GENE_RGD_ID SYMBOL NAME GENE_DESC CHROMOSOME_CELERA CHROMOSOME_31 CHROMOSOME_34 FISH_BAND START_POS_CELERA STOP_POS_CELERA STRAND_CELERA START_POS_31 STOP_POS_31 STRAND_31 START_POS_34 STOP_POS_34 STRAND_34 CURATED_REF_RGD_ID CURATED_REF_PUBMED_ID UNCURATED_PUBMED_ID RATMAP_ID ENTREZ_GENE UNIPROT_ID RHDB_ID UNCURATED_REF_MEDLINE_ID GENBANK_NUCLEOTIDE TIGR_ID GENBANK_PROTEIN UNIGENE_ID GDB_ID SSLP_RGD_ID SSLP_SYMBOL OLD_SYMBOL OLD_NAME QTL_RGD_ID QTL_SYMBOL NOMENCLATURE_STATUS SPLICE_RGD_ID SPLICE_SYMBOL GENE_TYPE ENSEMBL_ID 69466 A1BG alpha-1-B glycoprotein The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq] 1580863 3458201,18706098,16335952,15489334,15461460,15221005,14760718,14702039,12477932,8889549,3610142,2591067,20116414 1 AC010642,AC012313,CH471135,AA484435,AB073611,AF414429,AI022193,AK055885,AK056201,AK289417,BC035719,BX325198,BX537419,CR603363,CR604603,CR609084,NM_130786,CR612720,CR614062,T80683,W25099 NP_570602,EAW72575,BAD38648,AAL07469,BAG51591,BAF82106,AAH35719,CAD97661,P04217,Q7Z3U3 Hs.529161,Hs.709582 A1B|ABG|DKFZp686F0970|GAB|HYST2477 alpha-1B-glycoprotein protein-coding 733348 A1CF APOBEC1 complementation factor Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Alternative splicing occurs at this locus and three full-length transcript variants, encoding three distinct isoforms, have been described. Additional splicing has been observed but the full-length nature of these variants has not been determined. [provided by RefSeq] 1300239,1300341 11871661,10669759,12896982,12881431,10781591,16055734,15164054,15148397,14702039,12477932,11815617,11752456,11718896,11577082,11571303,11352648,11329013,11134005,11072063,10833526,19932086 1300239,1300341 29974 NM_138933,NM_138932,NM_014576,AL512366,AL589794,CH471083,AF209192,AF271789,AF271790,AJ272078,AJ272079,AK000324,AK291982,AK303801,BC022263,BC054873,BC130519,BC144194,BC144196,BG188383,NM_001198818,NM_001198819,NM_001198820 NP_620311,NP_620310,NP_055391,CAI14233,CAI14234,CAI14235,CAI14236,CAI15762,CAI15763,CAI15764,EAW54133,EAW54134,EAW54135,EAW54136,EAW54138,AAF34824,AAF76221,AAF76222,CAB94754,EAW54137,CAB94755,BAA91086,BAF84671,BAG64755,AAH54873,AAI30520,AAI44197,Q5T0W7,Q7Z2U9,Q9NQ94,NP_001185747,NP_001185748,NP_001185749 Hs.499643 ACF|ACF64|ACF65|APOBEC1CF|ASP|MGC163391|RP11-564C4.2 APOBEC-1 stimulating protein|APOBEC1 complementation factor|APOBEC1-stimulating protein|OTTHUMP00000019611|OTTHUMP00000019612|apo-B RNA editing protein|apobec-1 complementation factor (ACF) (ASP)|apobec-1 complementation factor, apobec-1 stimulating protein protein-coding 1606794 A2BP1 ataxin 2-binding protein 1 Ataxin-2 binding protein 1 has an RNP motif that is highly conserved among RNA-binding proteins. This protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the gene product of the SCA2 gene which causes familial neurodegenerative diseases. Ataxin-2 binding protein 1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been found but their full length nature has not been determined. [provided by RefSeq] 10814712,19508968,19414679,19308021,19043545,18978788,18846501,18794351,18573872,18519826,17503474,17101796,16713569,16537540,16362037,16260614,14702039,12477932,11471052,18951430,20600896,20724578,19546859,19567891,19688295,19875103,20153395,20379614 54715 NM_018723,NM_001142333,NM_001142334,NM_145893,NM_145891,NM_145892,NG_011881,AC005774,AC006075,AC006112,AC007012,AC007217,AC007222,AC007223,AC009135,AC022206,AC023829,AC027683,AC079410,AC125796,AC131390,AF109107,AF109120,CH471112,AB208826,AF094849,AF107203,AF229057,AF448859,AK001027,AK293951,AK299664,AL713700,BC026312,BC033885,BC113691,BC143816,CR621423,AF109106 NP_061193,NP_001135805,NP_001135806,NP_665898,NP_665899,NP_665900,AAL83407,AAL83408,AAL83409,EAW85216,EAW85217,EAW85218,EAW85219,EAW85220,BAD92063,AAL83405,AAF78291,AAL83406,AAL71904,AAP41925,BAA91472,BAH11633,BAH13094,CAD28499,AAI13692,AAI43817,Q59HD3,Q8TCM0,Q9NWB1 Hs.459842 A2BP1|FOX-1|FOX1|HRNBP1 ataxin 2-binding protein 1|ataxin-2-binding protein 1|fox-1 homolog A|hexaribonucleotide binding protein 1|hexaribonucleotide-binding protein 1 protein-coding 2299985 A2LD1 AIG2-like domain 1 16344560,14702039,12477932,20110353 87769 DA628207,NM_001195087,AL356966,NM_033110,AL136526,CH471085,AK091974,AK093228,AK095850,BC001077,BC004360 NP_001182016,NP_149101,CAI39558,EAX09037,BAG53143,AAH01077,AAH04360,Q9BVM4 Hs.350868 GGACT AIG2-like domain-containing protein 1|OTTHUMP00000018653|gamma-glutamylamine cyclotransferase|gamma-glutamylaminecyclotransferase protein-coding 735738 A2M alpha-2-macroglobulin Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. [provided by RefSeq] 1549857,2298922,1598407,1302534,1300322,1300048,1549856,1598509,1331525,1598512,1598513,1300321,1358261,1580863 11435418,9714181,10880251,12538697,18029348,59727,14718574,19105203,19074141,18706476,18579803,18499670,18382889,18171086,18077315,17967834,17608619,17453620,17403113,17288987,17071617,16910174,16784755,16650578,16641085,16456795,16407218,16402284,16384981,16335952,16297527,16232083,16040006,15931081,15910735,15908432,15793779,15611997,15511627,15489334,15468911,15023809,14760718,14759632,14715656,14678766,14675603,14637088,14506912,12966032,12782964,12782337,12755687,12755614,12754519,12631277,12477932,7680268,7533769,7533162,7519849,6203908,6195065,6191979,6172288,6167263,6165619,6153632,3289986,2581245,2476070,2460294,2459995,2430963,2408344,1707161,1697852,1692292,1374237,1370808,1281457,89758,7690356,7524416,1724156,10681572,1702714,12394648,12221172,12194978,12175343,12123860,12062545,12059070,12042276,12015318,11987698,11916201,11910179,11901360,11823454,11811950,11498265,11496365,11484172,11455130,11436125,11290389,11281447,11231028,11166925,11162584,11121179,11100124,11099722,11058789,11036822,11023837,10731476,10714547,10652313,10373500,9865955,9831625,9724081,9344465,9166830,8583572,20156641,14687906,15950906,8662763,15226301,15231748,15862967,16169070,16289162,18191876,19639019,20048078,20207732,20381197,20401725,20493925,2466831,2467766,6698368,80233,9398211,9428387,19913121,20587546,20628086,20637261,20575108,20800603 1549857,2298922,1302534,1300322,1549856,1598509,1331525,1598512,1598513,1300321,1358261 2 NM_000014,NG_011717,AC007436,AF349032,AF349033,CH471116,X68728,X68729,Z11711,AB209614,AK307832,AK312482,AY591530,BC026246,BC040071,BX504041,BX647329,CR621613,CR622895,CR749334,M11313,M36501 NP_000005,AAK38109,AAK38110,EAW88590,CAA48670,CAA77774,BAD92851,AAT02228,AAH26246,AAH40071,CAH18188,AAA51551,AAA51552,P01023,Q9BQ22 Hs.212838 CPAMD5|DKFZp779B086|FWP007|S863-7 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5|alpha-2-M|alpha-2-macroglobulin protein-coding 1606453 A2ML1 alpha-2-macroglobulin-like 1 The alpha-macroglobulin (AM) superfamily of proteins contains both complement components and protease inhibitors, including A2M (MIM 103950) and A2ML1. AM proteins display a unique trap mechanism of inhibition, by which the AM inhibitor undergoes a major conformational change upon its cleavage by a protease, thus trapping the protease and blocking it from subsequent substrate binding (Galliano et al., 2006 [PubMed 16298998]).[supplied by OMIM] 16298998,19204726,18648652,17562024,16344560,14702039,12477932,10737800,20805888 144568 NM_144670,AC006513,AC006581,CH471116,AK057908,AK096448,AK122624,AK123591,AK123592,AK123601,AK290355,AK302555,AL832139,AL832750,AL833479,BC093840,BC112131,BF330285,BX647674,BX648231,DA436610,EL594621 NP_653271,EAW88602,EAW88603,EAW88605,EAW88606,EAW88607,BAB71612,BAC04793,BAC85494,BAC85653,BAC85654,BAG53918,BAF83044,BAH13740,AAH93840,AAI12132,A8K2U0,Q6ZWK7,AAI72370,EAW88604 Hs.620532 CPAMD9|DKFZp686C1729|DKFZp686D2011|DKFZp686G1812|DKFZp686L1821|DKFZp686O1010|FLJ16045|FLJ25179|FLJ39129|FLJ41597|FLJ41598|FLJ41607 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9|C3 and PZP-like, alpha-2-macroglobulin domain containing 9|alpha-2-macroglobulin-like protein 1 protein-coding 1350441 A2MP alpha-2-macroglobulin pseudogene 1299021 19105203,2478422 1299021 3 NG_001067,AC010175,M24415 A2MP pseudo 1606731 A3GALT2 alpha 1,3-galactosyltransferase 2 18630988 127550 AL513327,NG_012483 CAI13954 A3GALT2|IGBS3S pseudo 734223 A4GALT alpha 1,4-galactosyltransferase The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. [provided by RefSeq] 1300231,1580863 10854428,10591208,16712791,10747952,10748143,19470247,19139081,18757779,18067504,16212661,15489334,15142124,12888565,12477932,11896312,11782470,10993874,20732996 1300231 53947 NG_007495,AB041418,AF513323,AF513326,AF513327,AL049757,AY166861,AY166862,AY166863,AY358074,AY496228,AY496229,AY496230,AY941797,CH471138,Z82176,AB037883,AJ245581,AK074388,AK312927,NM_017436,BC017068,BC055286,CB150578,CR604491 NP_059132,BAA94503,AAP47164,AAP47167,AAP47168,AAO39149,AAO39150,AAO39151,AAQ68076,AAS77214,AAS77215,AAS77216,AAX20109,EAW73274,CAI18757,BAA95915,CAB93532,BAG35771,AAH17068,AAH55286,Q540I5,Q540I6,Q5D079,Q6RJV9,Q6RJW0,Q6RJW1,Q7Z2I1,Q7Z7C6,Q9NPC4,ABM82545,ABM85737 Hs.105956 A14GALT|A4GALT1|Gb3S|P(k)|P1|PK CD77 synthase|GB3 synthase|P blood group (P one antigen)|P(k) antigen synthase|P1/Pk synthase|UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase|alpha-1,4-N-acetylglucosaminyltransferase|alpha4Gal-T1|globotriaosylceramide synthase|lactosylceramide 4-alpha-galactosyltransferase protein-coding 1348447 A4GNT alpha-1,4-N-acetylglucosaminyltransferase This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq] 1580863,2325199 11304796,9373149,8125298,10430883,18029348,16441422,15489334,12594234,12477932,19751437,20379614 2325199 51146 NM_016161,AC023049,CH471052,AF141315,AK225668,BC119639,BC119640 NP_057245,EAW79084,AAD48406,AAI19640,AAI19641,Q9UNA3 Hs.278960 MGC149493|alpha4GnT alpha-1,4-N-acetylglucosaminyltransferase protein-coding 1342487 AA atrophia areata, peripapillary chorioretinal degeneration 1298614 1298614 8 2290197 AAA1 asthma-associated alternatively spliced gene 1 15073379,12477932,20395963 404744 NR_015356,AC004788,AC005173,AC005174,AC005490,AC005491,AC005492,AC005493,AC005502,AC005582,AC005680,AC005685,AC005688,AC005852,AC005853,AC005862,CH471073,AY312364,AY312365,AY312366,AY312367,AY312368,AY312369,AY312370,AY312371,AY312372,AY312373,AY321515,AY321516,BC031961,BC130477,BX649082,U85653,NG_021366,NR_033664,NR_033665 EAW94027,EAW94028,EAW94029,EAW94030,EAW94031,EAW94032,EAW94033,AAQ85133,AAQ85134,AAQ85135,AAQ85136,AAQ85137,AAQ85138,AAQ85139,AAQ85140,AAQ85141,AAQ87609,AAQ87610,Q6W4W4 Hs.487951 miscrna 1318625 AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) 1580863,1549858,1598514 11701718,11159947,11062474,9373149,8968764,8125298,12730363,19322026,19172511,19011813,18175081,16938764,16609705,16543750,16098009,16022285,15843079,15680696,15666842,15489334,15217518,15022193,14702039,12752575,12477932,12228227,11914417,11815731,20447142,10601273,19703420,19782045,19855093 1549858,1598514 8086 AC073611,AJ289841,AJ297977,CH471054,AF226048,AJ289857,AK000833,AK094302,AK222509,AK293342,AL110160,NM_015665,AY237818,BC000659,BC018836,BT006912,CR590678,CR591048,CR593907,CR595976,CR597176,CR597994,CR601072,CR601632,CR616332,CR619164,DC393722,NG_016775,NM_001173466 NP_056480,CAC19038,CAC17465,EAW96692,EAW96693,AAF86948,CAC19017,BAA91394,BAD96229,BAG56858,CAB53665,AAP69911,AAH00659,AAP35558,Q53HS1,Q5JB47,Q9NRG9,ABM84232,ABM84790,NP_001166937 Hs.369144 AAA|AAASb|ADRACALA|ADRACALIN|ALADIN|DKFZp586G1624|GL003 Allgrove, triple-A|achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)|aladin protein-coding 1347562 AACP arylamide acetylase pseudogene 1298616 9284941,2340091 1298616 11 NG_004857,AC025062,AC120051,X17060 NATP pseudo 732340 AACS acetoacetyl-CoA synthetase 2301022,1300048,2326093,2326191 18660489,17762044,14702039,12623130,12477932,9671465,4073493,20102333 2301022,2326093,2326191 65985 AC122688,CH471054,AB054121,AK022451,AK022740,AK024036,AK024760,AK123245,AK304176,AK308779,AL833047,AY091468,BC004997,BC036694,BC040490,BC040574,NM_023928,BC041000,BC051862,CR603159,CR613420 NP_076417,EAW98473,EAW98474,EAW98475,BAD22560,BAB14040,BAB14216,BAB14793,BAB14991,BAG65058,CAH56309,AAM44124,AAH04997,AAH36694,AAH40490,AAH40574,AAH41000,AAH51862,Q49AJ4,Q86V21,Q9H7A6,Q9H9K9 Hs.656073 ACSF1|FLJ12389|FLJ41251|SUR-5 acetoacetate-CoA ligase|acetoacetyl-CoA synthetase|acyl-CoA synthetase family member 1|homolog of C. elegans supressor of ras 5 (sur-5)|protein sur-5 homolog protein-coding 1604681 AACSL acetoacetyl-CoA synthetase-like 12477932,10682835 729522 NR_024035,AC113348,AC126915,AA954365,BC024222,BC140764,BC144474,DR008193 AAI40765 Hs.382790 AACSL pseudo 737554 AADAC arylacetamide deacetylase (esterase) Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq] 1580863 9665742,11481320,18029348,10318829,15152005,8063807,19343046,15489334,12721789,12477932,9299245,2043131,20694011,17936933,19339378,20379614 13 NM_001086,AC068647,CH471052,AK290628,AV705031,BC020706,BC032309,CR624107,L32179 NP_001077,EAW78791,EAW78792,BAF83317,AAH32309,AAA35551,P22760 Hs.506908 CES5A1|DAC OTTHUMP00000216827|arylacetamide deacetylase protein-coding 1606396 AADACL2 arylacetamide deacetylase-like 2 17562024,12477932,17207965 344752 NM_207365,AC069067,CH471052,BC065724,BX118873,BX647585,CU449274 NP_997248,EAW78796,EAW78797,AAH65724,CAI46075,Q6P093,ADQ32028 Hs.144710 MGC72001 arylacetamide deacetylase-like 2 protein-coding 1602438 AADACL3 arylacetamide deacetylase-like 3 16710414 126767 NM_001103170,NM_001103169,AL513016,AK127828 NP_001096640,NP_001096639,CAH74175,CAH74176,BAG54581,Q5VUY0 Hs.464705 RP11-474O21.3 arylacetamide deacetylase-like 3 protein-coding 1603850 AADACL4 arylacetamide deacetylase-like 4 16710414 343066 NM_001013630,AL513016,CH471130 NP_001013652,CAH74173,EAW71744,Q5VUY2 Hs.209954 arylacetamide deacetylase-like 4 protein-coding 1606004 AADAT aminoadipate aminotransferase This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Two alternative transcripts encoding the same isoform have been identified, however, additional alternative transcripts and isoforms may exist. [provided by RefSeq] 2290313,2290312 17207965,20877624,12126930,18056996,18056995,15489334,14702039,12477932,10441733,8087205,1798692,18620547 2290313,2290312 51166 NM_182662,NM_016228,AC084866,CH471056,AF481738,AI190763,AK055952,AK314729,BC031068 ADQ32439,NP_872603,NP_057312,AAY41030,EAX04770,EAX04771,EAX04772,AAM09683,BAG51596,BAG37271,AAH31068,Q4W5N8,Q8N5Z0 Hs.529735 KAT2|KATII 2-aminoadipate aminotransferase|2-aminoadipate transaminase|KAT/AadAT|L kynurenine/alpha aminoadipate aminotransferase|OTTHUMP00000219261|OTTHUMP00000219264|alpha-aminoadipate aminotransferase|kynurenine aminotransferase II|kynurenine--oxoglutarate aminotransferase II|kynurenine--oxoglutarate transaminase II|kynurenine/alpha-aminoadipate aminotransferase, mitochondrial protein-coding 1605954 AAGAB alpha- and gamma-adaptin binding protein 11256614,17081983,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,10477754,16169070,20641033 79719 AC012568,AC110292,CH471082,AK021568,AK294402,AL136715,AL832256,BC001975,BC035852,BC047026,BC058886,BX648272,CR533540,CR614587,CR620129,DA688370,NM_024666 NP_078942,EAW77792,EAW77793,BAB13845,BAG57655,CAB66649,CAI46180,AAH01975,AAH47026,AAH58886,CAH10544,CAG38571,Q5JPJ4,Q6AWA0,Q6PD74,CAL37898,CAL38289 Hs.254642 DKFZp667D2317|DKFZp686G08119|FLJ11506|p34 alpha- and gamma-adaptin-binding protein p34 protein-coding 1313595 AAK1 AP2 associated kinase 1 Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 17494869,17178891,16964243,16903783,16782842,16344560,16083285,15815621,15489334,15302935,15292237,14702039,14617351,12952931,12477932,12471243,11877461,11877457,10470851,18029348,19772629,20379614 22848 AC079121,AC092431,AC114772,AC136007,CH471053,AB028971,AF090100,AF090101,AK055622,AK056043,AK074292,AK098797,AK124872,AK127187,AK310951,AW451954,AW969393,BC002695,BC073953,BC090950,BC104842,BC111965,BC132937,BC132939,BC143710,BX640963,BX641060,CA436375,CR599899,CR624904,DA121999,DB285703,NM_014911 NP_055726,AAY14931,AAX88861,EAW99847,EAW99848,BAA83000,BAC86877,AAH02695,AAI04843,AAI11966,AAI43711,Q2M2I8,Q9BUD9 Hs.468878 DKFZp686F03202|DKFZp686K16132|FLJ23712|FLJ25931|FLJ31060|FLJ42882|FLJ45252|KIAA1048|MGC138170|MGC164568|MGC164570 AP2-associated protein kinase 1|adaptor-associated kinase 1 protein-coding 1607091 AAMP angio-associated, migratory cell protein The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. [provided by RefSeq] 7743515,18634987,16344560,15489334,15146197,12477932,11969303,10329261,9373149,8660919,8125298,16169070,19535145,20237496 14 NM_001087,AC021016,CH471063,AB209790,AK131047,AK225078,BC008809,BC014122,BC020244,BC039866,BG534787,CN277005,CR456755,CR590201,CR593855,CR594232,CR595051,CR597015,CR597851,CR599512,CR600072,CR602732,CR603124,CR604187,CR604549,CR608492,CR611211,CR617077,CR618853,CR621167,CR622304,CR623262,CR626270,DA465288,M95627 NP_001078,EAW70599,EAW70600,EAW70601,BAD93027,AAH08809,AAH20244,AAH39866,CAG33036,AAA68889,Q13685,Q59EM1 Hs.83347 OTTHUMP00000207409|OTTHUMP00000207410|angio-associated migratory cell protein protein-coding 736736 AANAT arylalkylamine N-acetyltransferase Arylalkylamine N-acetyltransferase belongs to the superfamily of acetyltransferases. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for seasonal reproduction, modulates the function of the circadian clock in the suprachiasmatic nucleus, and influences activity and sleep. This enzyme is rapidly inactivated when animals are exposed to light at night. This protein is 80% identical to sheep and rat AA-NAT. Arylalkylamine N-acetyltransferase may contribute a multifactorial genetic diseases such as altered behavior in sleep/wake cycle. [provided by RefSeq] 1580863,1300048,2301030,2301037,2302130,1300232 19343046,8661026,19184136,19086053,18794762,18569588,17503170,17164235,15489334,15332344,14728993,12736803,12552951,12477932,12039872,11934439,11427721,11393533,11336675,11313340,9238858,7502081,2181999,8024705,19839995,20377855,20459461,8889549,20586889,17207965 2301030,2301037,2302130,1300232 15 NM_001088,AB023793,AB023794,AB023795,AB023796,AB023797,AC015802,AF360979,CH471099,U40391,BC069434,BC092430,BC126332,BC126334,U40347,AA084486,AY055827,BC143989,NG_015976,NM_001166579 NP_001079,BAB20312,BAB20313,BAB20314,BAB20315,BAB20316,AAK49981,EAW89400,AAC50555,AAH69434,AAH92430,AAI26333,AAI26335,AAC50554,Q16613,Q9GZS4,Q9H3S9,Q9H3T0,Q9H3T1,NP_001160051,ADQ32919 Hs.431417 AA-NAT|SNAT arylalkylamine N-acetyltransferase|arylalkylamine n - acetyltransferase|serotonin N-acetyltransferase|serotonin acetylase protein-coding 1312500 AARS alanyl-tRNA synthetase The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. 1298623,1580863 7654687,15489334,12477932,11829477,11532948,10508479,9373149,8595897,8125298,8076819,2915692,7761427,17081983,20045102 1298623 16 NM_001605,AC009060,AC012184,AC093491,CH471241,AK222824,AK225116,AK307782,BC011451,BG764123,BU178772,D32050,AK299098,NG_023191 NP_001596,EAW51838,EAW51839,EAW51840,BAD96544,AAH11451,BAA06808,P49588,ABM82560,ABM85750,BAG61157 Hs.315137 CMT2N alaRS|alanine tRNA ligase 1, cytoplasmic|alanine--tRNA ligase|alanyl-tRNA synthetase, cytoplasmic|renal carcinoma antigen NY-REN-42 protein-coding 1321623 AARS2 alanyl-tRNA synthetase 2, mitochondrial (putative) 15779907,15489334,14574404,12477932,12421765,10737800,10574462,20877624 57505 AL353588,CH471081,AB033096,BC013593,BC021131,BC033169,BC041026,BC128175,BC131728,BF768723,CR612653,NM_020745 NP_065796,CAI40747,EAX04268,BAA86584,AAH13593,AAH33169,AAI28176,AAI31729,Q5JTZ9 Hs.158381 AARSL|KIAA1270|MT-ALARS|MTALARS|bA444E17.1 alaRS|alanine tRNA ligase 2, mitochondrial (putative)|alanine--tRNA ligase|alanyl-tRNA synthetase like|alanyl-tRNA synthetase, mitochondrial|alanyl-tRNA synthetase-like|alanyl-trna synthetase like|probable alanyl-tRNA synthetase, mitochondrial protein-coding 1606776 AARSD1 alanyl-tRNA synthetase domain containing 1 12477932,8889549,7545954,16344560,15489334,14702039 80755 NM_025267,NM_001136042,NM_001142653,NM_001142654,AC055866,CH471152,AA180872,AF039235,AI312767,AK056965,AK093402,AK094084,AK295447,AK309477,BC004172,BC019324,BU631064,BX406721,CR608238,CR613084,CR617160,CR619011,CR621048,DA900052,DB330888 NP_079543,NP_001129514,NP_001136125,NP_001136126,EAW60903,EAW60904,EAW60905,EAW60906,BAG52811,BAG58385,AAH04172,AAH19324,Q9BTE6,ACE87168,ACE86487 Hs.317403 MGC2744 OTTHUMP00000204017|OTTHUMP00000204019|OTTHUMP00000204020|alanyl-tRNA editing protein Aarsd1|alanyl-tRNA synthetase domain-containing protein 1 protein-coding 1606160 AASDH aminoadipate-semialdehyde dehydrogenase 17762044,15865210,15198809,12712191,12477932,11230166 132949 NM_181806,AC068620,CH471057,AF161436,AF516672,AY314787,AY422212,BC015096,BC071815,BC141824,BC142709,BX648853,BX640635,AK294332,AK303733,AK304309,AK316296 NP_861522,EAX05484,EAX05485,EAX05486,AAF28996,AAP76519,AAQ83120,AAR31184,AAH71815,AAI41825,AAI42710,CAH56130,Q4L235,CAH56482,BAG57604,BAG64707,BAG65162,BAH14667 Hs.104347 ACSF4|LYS2|NRPS1098|NRPS998 2-aminoadipic 6-semialdehyde dehydrogenase|OTTHUMP00000219036|OTTHUMP00000219037|OTTHUMP00000219039|acyl-CoA synthetase family member 4|non-ribosomal peptide synthetase 1098|non-ribosomal peptide synthetase 998 protein-coding 1322778 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. 1580863 11286508,11042152,10931946,10810093,12477932,12815048,16189514,15489334,18022563,19615732,19933275 60496 NM_015423,AP001001,CH471065,AB072896,AF136978,AF151057,AF151838,AF201943,AF302110,AK312529,AL050073,BC015470,BC016728,BX537665,CR597963,AK293362 NP_056238,EAW67077,EAW67078,AAG49439,AAF36143,AAD34075,AAF86879,AAG30872,BAG35428,CAB43257,AAH15470,AAH16728,Q9NRN7,ABM82268,ABM85450,BAG56878 Hs.524009 AASD-PPT|CGI-80|DKFZp566E2346|LYS2|LYS5 4'-phosphopantetheinyl transferase|L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase|LYS5 ortholog|alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase protein-coding 1321929 AASS aminoadipate-semialdehyde synthase This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq] 1300048 10775527,10567240,16344560,14702039,12853948,12690205,9847074,9373149,8889548,8125298,18029348,20877624,12477932 10157 AC006020,CH236947,CH471070,AF229180,AJ007714,AK023446,AK225898,AK294326,BC144246,BC144247,BM669241,DA995180,NG_008140,NM_005763 AAF03526,EAL24343,EAW83564,EAW83565,AAF44328,CAA07619,BAG51195,BAG57598,Q9UDR5,AAI56457,AAI72503,NP_005754 Hs.156738 LKR/SDH|LKRSDH|LORSDH OTTHUMP00000211400|OTTHUMP00000211402|alpha-aminoadipate semialdehyde synthase|alpha-aminoadipic semialdehyde synthase, mitochondrial|aminoadipic semialdehyde synthase|lysine-2-oxoglutarate reductase|lysine-ketoglutarate reductase /saccharopine dehydrogenase protein-coding 734398 AATF apoptosis antagonizing transcription factor The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq] 1580863 20532202,15231747,17157788,10580117,18029348,12429849,18341201,17488777,17468107,17081983,17006618,16565220,16189514,15635413,15489334,15207272,14761944,14702039,14697667,14627703,12847090,12477932,12450794,11790298,11027528,10783144,20708154,12376548,12787561,18049476,19834535,20025740 26574 AK026173,AK057229,BC000591,CR616929,NM_012138,AC003103,AC023315,CH471199,AF083208,AF161395,AJ249940 BAG51888,AAH00591,Q9NY61,ABM83023,ABM86216,NP_036270,EAW57575,AAD52016,AAF28955,CAB57451 Hs.195740 CHE-1|CHE1|DED apoptosis-antagonizing transcription factor|protein AATF|rb-binding protein Che-1 protein-coding 1317702 AATK apoptosis-associated tyrosine kinase The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. [provided by RefSeq] 1580863 14521924,18029348,17651901,16969489,15489334,14702039,12670708,12477932,12168954,11314040,11314039,10837911,10083745,9734811,14563843 9625 XM_002345084,XM_003119693,XM_003120900,XM_003120903,XR_111752,XR_115154,XR_115155,NM_001080395,AC115099,AB014541,AK094931,AK131395,AK131529,AK309099,BC047378,BI256809 XP_002345125,XP_003119741,XP_003120948,XP_003120951,NP_001073864,BAA31616,BAD18544,BAD18667,AAH47378,Q6ZMQ8 Hs.514575 AATYK|AATYK1|KIAA0641|LMR1|LMTK1|p35BP CDK5-binding protein|OTTHUMP00000163590|brain apoptosis-associated tyrosine kinase|lemur tyrosine kinase 1|p35-binding protein|serine/threonine-protein kinase LMTK1 protein-coding 1344732 AAVS1 adeno-associated virus integration site 1 1334463 17 S51329 732065 ABAT 4-aminobutyrate aminotransferase 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq] 1300048,1580863,1598516,1598518,1598520,1598522,1598524,1598531 15528998,17474147,15650327,11918424,18334916,16344560,15830322,15642443,15489334,14702039,12694932,12477932,10951220,10407778,7851425,7721088,7305280,6470007,6148708,11181995,11256614,19598235,20052547,20379614,20659789,20677014,20877624 1598516,1598518,1598520,1598522,1598524,1598531 18 NM_020686,NM_000663,NM_001127448,NG_008432,AC007224,AC012173,CH471112,AA806200,AF237813,AK096146,AK290501,AK293983,AK310771,AL137454,BC008990,BC013965,BC015628,BC031413,BC075851,BG749438,BG818982,BI459888,BI602086,BX537362,CR593324,CR599622,DA228305,DA300126,DA531116,DB443567,DB479117,DC335224,L32961,S75578,U80226,AK054834 NP_065737,NP_000654,NP_001120920,EAW85207,EAW85208,AAG09758,BAF83190,BAH11640,AAH15628,AAH31413,AAA74449,AAD14176,AAB38510,P80404,Q9HBH6,ABM83995,ABM87322,EAW85209 Hs.336768 FLJ17813|FLJ30272|GABA-AT|GABAT|NPD009 (S)-3-amino-2-methylpropionate transaminase|4-aminobutyrate aminotransferase, mitochondrial|4-aminobutyrate transaminase|GABA aminotransferase|GABA transaminase|GABA transferase|gamma-amino-N-butyrate transaminase|hCG1984265 protein-coding 736157 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq] 1298630,1331525,1600654,1580863,1298571,1600951,1598532,1598533,1598534,1598547,1300323,1601092,1300233,1300234,2312576 19553242,20395597,17076584,12505994,11864601,20338636,20413849,20553836,20064972,20215580,20101560,20378541,20800056,12235128,7766993,15140889,15135251,15102890,15066991,15033469,15024730,14993242,14986172,14967823,14967052,14962947,14767869,14754908,14734645,14702039,14701850,14701812,14681836,14668333,14660648,14644402,14576201,14570867,14560020,14559902,12966036,12952980,12928428,12870173,12869555,12860256,12813037,12804586,12763760,12730295,12709788,12706378,12700893,12624133,12615681,12600975,12600718,12576507,12562845,12551894,12535741,12511593,12509412,12477932,15158913,12426219,12359250,16443932,12084722,16702602,15469992,10431236,11162594,14747463,17305370,11855831,15163665,18490524,14701824,10525055,19606474,19556522,19538231,19528336,19489872,19474452,19420105,19343046,19341173,19336370,19304576,19304534,19295162,19287193,19285487,19268428,19261092,19258317,19201688,19170766,19168441,19151332,19148283,19133158,19131637,19099922,19070858,19060911,19060906,19059534,19056482,19019193,18996286,18955690,18927546,18927311,18841006,18820007,18805791,18803945,18789440,18782758,18782226,18776170,18767813,18762171,18711208,18706283,18676680,18660489,18640393,18621447,18617649,18583707,18566305,18523221,18484747,18468402,18385134,18354102,18343215,18287097,18252847,18239666,18220685,18219093,18218626,18215356,18199144,18193044,18193043,18164264,18097620,18057374,18003760,17992631,17991739,17951323,17923263,17855807,17700364,17690481,17689273,17656736,17608096,17556657,17553166,17550732,17521614,17510949,17510946,17510466,17481640,17430597,17412755,17407076,17383594,17372331,17368464,17335784,17324514,17287470,17268197,17241464,17196163,17135600,17135302,17121837,17113061,17082211,17070530,17020879,17001213,16928680,16902247,16901265,16879828,16873719,16870193,16855366,16825673,16806540,16806233,16770077,16763159,16730733,16725228,16709568,16596262,16542392,16505586,16500904,16497665,16456089,16446539,16429166,16418537,16410457,16343503,16313984,16254209,16235041,16226177,16207713,16192292,16192291,16192290,16192289,16192288,16192287,16192286,16192285,16192284,16192283,16192282,16192281,16192279,16192278,16192277,16192276,16192275,16192274,16192273,16192272,16192271,16192270,16192269,16166555,16157450,16126721,16120575,16118212,16086925,16080812,16055210,16030523,16009332,15983222,15961705,15958302,15952113,15951431,15935359,15930518,15905177,15890646,15851589,15829498,15817453,15774904,15721294,15696473,15657615,15649702,15574409,15528481,15528463,15520867,15500734,15492319,15358760,15358117,15340333,15297675,15292375,15288432,15280376,15262183,15218032,15201080,12226704,12204794,12196520,12176027,12151852,12111371,12093886,12054535,12032171,12009425,11950847,11940086,11929608,11893753,11861672,11809185,11785958,11752403,11719471,11700048,11476965,11476961,11352567,11349008,11279031,11257261,11257260,11238261,11086027,10970803,10938021,10884428,10799318,10706591,10535983,10533863,10431238,10431237,10092505,9731541,9006906,8088782,20103810,20702810,14722086,17205124,17604270,17710129,19170196,19201410,19202195,19446537,19530967,19556721,19578796,19589783,19596329,19625176,19656776,19673941,19692168,19692220,19721717,19743957,19765707,19767535,19773416,19783654,19828131,19837407,19878569,19902402,19913121,19948975,20031551,20067955,20079340,20089670,20093111,20160193,20167577,20170916,20173014,20185793,20227257,20303467,20346718,20348106,20379614,20385819,20385826,20394740,20418488,20430392,20864672,20057170,20571217,20571754,20595220,20628086,20634891,20679960,20797885,21116278,20188211,20691829,20714348,20835684,20855565,20972250,20427018,20485864,20951680 1298630,1331525,1600654,1298571,1600951,1598532,1598533,1598534,1598547,1300323,1601092,1300233,1300234,2312576 19 NG_007981,AF165286,AF165306,AF165309,AF165310,AF258626,AF275948,AF287262,AJ252277,AL353685,AL359182,AL359846,CH471105,AB037924,AB055982,AB208839,AB445477,AF165281,AF258627,AF285167,AJ012376,AK024328,AK027864,BC034824,BC146856,NM_005502,BU753834,BX955241 NP_005493,AAD49851,AAD49852,AAD49854,AAD49853,AAF69516,AAF86276,AAK43526,CAC21428,CAH72442,CAH72443,CAH72444,CAH73579,EAW58992,EAW58993,EAW58994,BAB07875,BAB63210,BAD92076,BAH10664,AAD49849,AAF69513,AAF98175,CAA10005,AAI46857,O95477,Q59HC0,Q9H002,Q9NP93,Q9NS76 Hs.728215 ABC-1|ABC1|CERP|FLJ14958|HDLDT1|MGC164864|MGC165011|TGD ATP-binding cassette sub-family A member 1|ATP-binding cassette transporter 1|ATP-binding cassette transporter A1|cholesterol efflux regulatory protein|membrane-bound protein-coding 1347313 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq] 1580863 16094384,15489334,12821155,12477932,11435397,8894702 10349 NM_080282,AC005495,AY247105,CH471099,AK298508,AL832004,AY028900,AY247065,BC031026,BC051320,BC136460,BC144124,C16161,AK310858 NP_525021,AAO72160,EAW89077,EAW89078,BAG60714,CAD89903,AAK30025,AAO72161,AAH31026,AAH51320,Q8WWZ4,Q9P162,AAI66667 Hs.25377 EST698739 ATP-binding cassette A10|ATP-binding cassette sub-family A member 10 protein-coding 1346566 ABCA11P ATP-binding cassette, sub-family A (ABC1), member 11 (pseudogene) 16344560,14702039,12477932 79963 NR_002451,AC092574,CH471131,AK024359,BC060316,BC098116,BC098259,BC098291,BC099730,BC105084,BC112069,DA501191,AK303674 AAY41037,EAW82667,BAB14895,Q4W5N1,BAG64671 Hs.428360 ABCA11|EST1133530|FLJ14297|FLJ57767|MGC120309|MGC120310|MGC120312|MGC132744|MGC138274 atp-binding cassette, sub-family a (abc1), member 11 pseudo 1312110 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1598548 17927575,17611579,17591952,17508018,16902423,16007253,15980630,15756637,14702039,11435397,10094194,8894702,8845852,12697999,12915478,19179616,17986308,12477932,19262603,19429679,20379614 1598548 26154 NM_173076,NM_015657,NG_007074,AC072062,AC114780,CH471063,AF418105,AK096597,AK123578,AL080207,AY033486,AY219711,BC144073,CR609974 NP_775099,NP_056472,AAY24276,AAY24230,EAW70520,EAW70521,EAW70522,AAN40735,BAG53915,CAB45776,AAK54355,AAP21093,Q86UK0,AAI56328 Hs.134585 DKFZp434G232|FLJ41584|ICR2B|LI2 ATP-binding cassette sub-family A member 12|ATP-binding cassette transporter 12 protein-coding 1352197 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated. 19058789,14702039,12697998,12477932,10737800,19944402,20379614 154664 NM_152701,NG_012385,AC073424,AC073927,AC091770,AC095039,AC232300,AC232312,CH236955,CH471128,FJ770081,AF501281,AK091195,AK091270,AK126220,AK128516,AK128570,AK131360,AY204751,BC062666,BX647560,CV361876 NP_689914,EAW60990,EAW60991,EAW60992,AAO59914,BAC03623,BAC86492,BAC87475,AAP13576,Q5HYK4,Q6ZR43,Q86UQ4,CAI46091 Hs.226568 DKFZp313D2411|FLJ16398|FLJ33876|FLJ33951 ATP binding cassette transporter A13|ATP-binding cassette sub-family A member 13 protein-coding 2298742 ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17 (pseudogene) 16968533,14702039,18405356,20210993 650655 NR_003574,AC106820,AK095200,BC042853,DQ266102,DQ660314 Hs.376281 ABCA17|FLJ37881 pseudo 732200 ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1298630,1580863 16752360,16344560,15850583,15649702,15491607,15155565,15093135,12560508,12477932,12421765,12107413,10970803,10639163,10470851,8088782,1538749,15999530,7766993,12363033,15238223,11178988,11309290,19343046,18336955,17081983,20167577,19913121,20628086,15203218,21072184 1298630 20 NM_212533,NM_001606,NG_011789,AF327658,AF327659,AF327660,AF327661,AF327662,AF327663,AF327664,AF327665,AF327666,AF327667,AF327668,AF327669,AF327670,AF327671,AF327672,AF327673,AF327674,AF327676,AF327677,AF327678,AF327679,AF327680,AF327681,AF327682,AF327683,AF327684,AF327685,AF327686,AF327687,AF327688,AF327689,AF327690,AF327691,AF327692,AF327693,AF327694,AF327695,AF327696,AF327697,AF327675,AF327698,AF327699,AF327700,AF327701,AF327702,AF327703,AF327704,AF327705,AL807752,CH471090,AB028985,AB177854,AF178941,AF327657,AK295489,AK308738,AL162060,AL525193,AL833967,BC008755,BC029282,BC064542,BC090860,BC109244,BC144588,BC144589,BE273611,BF516223,BF983101,BI195329,BM314339,BM474929,BM921242,BM921499,CD612070,CD676110,DB168116,U18235,U18236 NP_997698,NP_001597,AAK14335,CAI12765,CAI12766,CAI12767,CAI12768,CAI12769,CAI12770,EAW88331,EAW88332,EAW88333,BAA83014,BAD66832,AAG09372,AAK14334,BAG58411,CAB82398,AAH08755,AAH64542,AAI09245,AAA84436,AAA84437,Q08EJ9,Q13038,Q13039,Q5SPY4,Q5SPZ4,Q5SPZ6,Q6P2G5,Q96HC2,Q9BZC7,Q9HC28,Q9UPU0,AAI72448 Hs.421202 ABC2|MGC129761 ATP-binding cassette 2|ATP-binding cassette sub-family A member 2|ATP-binding cassette transporter 2|ATP-binding cassette, sub-family A, member 2|OTTHUMP00000022649 protein-coding 1316207 ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq] 1549859,1580863 20304423,9027511,8706931,15531465,11718719,19343046,19252731,18603241,18463677,18317237,18246475,18024538,17660803,17597647,17574245,17429902,16968533,16959783,16857811,16415354,16344560,15976379,15465012,15044640,12477932,11940594,19220077,19861431,19902402,20371530,20863830,20656946 1549859 21 NM_001089,NG_011790,AC005212,AC007162,AC009065,AC098805,AC106820,CH471112,DQ073080,AB070929,AB210044,AK310864,BC020724,BC035752,BC062779,BC140895,BC146866,BC151840,BP397501,DA109409,U78735,X97187 NP_001080,EAW85515,AAY57325,BAB86781,BAE06126,AAH20724,AAH62779,AAI40896,AAI46867,AAI51841,AAC50967,Q4LE27,Q6P5P9,Q99758,CAA65825 Hs.26630 ABC-C|ABC3|EST111653|LBM180|MGC166979|MGC72201|SMDP3 ABC transporter 3|ABC-C transporter|ATP-binding cassette sub-family A member 3|ATP-binding cassette transporter 3 protein-coding 1319792 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq] 1580863,1598551,1598552 9054934,9202155,19430638,19365591,9703434,9666097,9503029,9490294,9466990,9425888,9295268,9288113,9288089,9070931,8894702,8889548,20661590,20696155,20404325,20647261,20711710,19365039,19352439,19343046,19074458,19056738,19028736,19015224,18977788,18854780,18649358,18523590,18506364,18334942,18285826,18214793,18024811,17997789,17982420,17932850,17724221,17325136,17286855,16917483,16681420,16604398,16546111,16533065,16303926,15947798,15494742,15375613,15223829,15017103,12888572,12824224,12796258,12754711,12592048,12515255,12442277,12202497,12111378,11973624,11919200,11726554,11594993,11527935,11444963,11385708,11384574,11379881,11346402,11328725,11320094,11017087,10958763,10958761,10880298,10767284,10746567,10711710,10634594,10612508,10466724,10206579,10090887,10075733,9973280,9781034,20335603,12673275,19217903,19578016,19948975,19959634,20029649,20128570,20379614,20436469,19913121,20591486,20628086,20801516 1598551,1598552 24 NM_000350,NG_009073,AC093579,AC105278,AF533020,CH471097,Y15635,AB210040,AF000148,AF001945,AK295818,AK296896,AK301733,AK301764,AK310492,AL712362,BM686882,CR627391,DQ426859,U66691,U88667 NP_000341,AAP33155,EAW73056,EAW73057,EAW73058,CAA75729,BAE06122,AAC23915,AAC05632,BAG58635,BAH12450,BAG63198,BAG63224,CAH10486,ABD90529,AAC51144,P78363,Q0QD48,Q6AI28,Q86V62,AAI72262,AAI72565 Hs.416707 ABC10|ABCR|ARMD2|CORD3|DKFZp781N1972|FFM|FLJ17534|RMP|RP19|STGD|STGD1 ATP binding cassette transporter|ATP-binding cassette sub-family A member 4|ATP-binding cassette transporter, retinal-specific|ATP-binding transporter, retina-specific|RIM ABC transporter|RIM protein|photoreceptor rim protein|retina-specific ABC transporter|retinal-specific ATP-binding cassette transporter|stargardt disease protein protein-coding 1300038 ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1549860,1580863 20487690,19343046,18676680,17541169,17289887,16344560,14702039,12504089,12477932,11572484,11435397,8894702,15870284,19170196,19625176,19692168 1549860 23461 NM_018672,AC005495,AC115085,CH471099,AB067475,AJ275973,AJ512612,AK056533,AK058170,AK094416,AK096664,AK122803,AK292592,AY028897,BC029426,BC054480,BC070126,BC146819,BF448717,BX640746,BX647447,BX648540,DB096625,NM_172232 Q6N017,Q8WWZ7,AAI56257,NP_758424,NP_061142,EAW89080,EAW89081,EAW89082,EAW89083,BAB67781,CAB93535,CAD54757,BAB71208,BAB71700,BAF85281,AAK30022,AAH29426,CAE45856,Q05C38 Hs.421474 ABC13|DKFZp451F117|DKFZp779N2435|EST90625|FLJ16381 ATP-binding cassette A5|ATP-binding cassette sub-family A member 5 protein-coding 1319094 ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq] 1580863 19170196,19625176,19692168,20379614,11435397,10639163,8894702,19343046,18676680,15489334,14702039,12477932,11478798 23460 NM_080284,AC005495,AC005922,AF373328,AF373290,AK097296,AK125487,AK308431,AY028898,BC029852,BC070125,BC125231,BC125232,CR593055,U66680 NP_525023,AAM77558,AAM77557,BAC04994,BAG54204,AAK30023,AAH70125,AAI25232,AAI25233,Q8N139,AAI66682 Hs.709514 EST155051|FLJ43498 ABC transporter ABCA6|ATP-binding cassette A6|ATP-binding cassette sub-family A member 6 protein-coding 1601775 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq] 10873640,19343046,18676680,16908670,15930518,15593299,15203218,14702039,14592415,14570867,12925201,12917409,12111378,11435699,11355874,11095984,11054552,8889548,19913121,20628086,19170196,19625176,19692168,19721717,20855565 10347 NM_019112,AC011558,AF311057,AF311058,AF311059,AF311060,AF311061,AF311062,AF311063,AF311064,AF311065,AF311066,AF311067,AF311068,AF311069,AF311070,AF311071,AF311072,AF311073,AF311074,AF311075,AF311076,AF311077,AF311078,AF311079,AF311080,AF311081,AF311082,AF311083,AF311084,AF311085,AF311086,AF311087,AF311088,AF311089,AF311090,AF311091,AF311092,AF311093,AF311094,AF311095,AF311096,AF311097,AF311098,AF311099,AF311100,AF311101,AF311102,CH471139,AB055390,AF140342,AF250238,AF328787,AK097344,AK301108,AK310127,AK310909,AL137481,BU675136,CD629701,DC405492 NP_061985,AAN04657,EAW69556,EAW69557,EAW69558,EAW69559,EAW69560,EAW69561,EAW69562,EAW69563,EAW69564,BAB62294,AAF06727,AAF85794,AAK00959,BAG53455,BAG62707,CAB70762,Q8IZY2,Q9NT80,AAI72426 Hs.134514 ABCA-SSN|ABCX|FLJ40025 ATP-binding cassette sub-family A member 7|autoantigen SS-N|macrophage ABC transporter protein-coding 1316041 ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The function of this protein has not yet been determined. [provided by RefSeq] 1580863 12379217,19343046,15489334,14702039,12477932,12111378,11329013,10048485,8889548 10351 NM_007168,AC005922,AC015844,CH471099,AB020629,AK090894,AK295876,AK304286,AK304360,BC010392,BC024003,BC037309,BC047765,BC094689,BC130280,BC143971,BC143972,BG210966,BM665457,BM707283 NP_009099,EAW89068,EAW89069,BAA74845,BAG58673,BAG65144,BAG65201,AAH24003,AAH37309,AAH47765,AAH94689,AAI30281,O94911,Q49AI9 Hs.58351 KIAA0822|MGC163152 ATP-binding cassette sub-family A member 8 protein-coding 1314254 ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq] 1580863 15489334,14702039,12477932,12150964,11435397,8894702,8889549,20877624 10350 AC005922,AF423308,AF423309,AF423310,AF423311,AF423312,AF423313,AF423314,NM_080283,AF423315,AF423316,AF423317,AF423318,AF423320,AF423321,AF423322,AF423323,AF423324,AF423325,AF423326,AF423327,AF423328,AF423329,AF423330,AF423331,AF423332,AF423333,AF423334,AF423335,AF423336,AF423337,AF423338,AF423339,AF423340,AF423341,AF423342,AF423343,AF423344,AF423345,AF423346,CH471099,AF423307,AK057068,AK074491,AK122687,AL833712,AW130042,AY028899,BC062472,BU072174,BU076154,CR627382,W84726 NP_525022,AAN32752,EAW89071,EAW89072,EAW89073,EAW89074,AAN32751,BAB71359,BAC11021,AAK30024,AAH62472,CAH10479,Q6AI35,Q8IUA7,AAI67781 Hs.131686 DKFZp686F2450|EST640918|MGC75415 ATP-binding cassette A9|ATP-binding cassette sub-family A member 9|OTTHUMP00000179123 protein-coding 730823 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. [provided by RefSeq] 2315557,2315573,2315550,2312331,2312343,2315559,2315560,2315562,2315549,2315553,2315556,1598554,1580863,1598562,1598563,1598564,1358367,1598558,1598559,1598568,1598560,1358366,2316977,4890020,4890033 20102361,20689757,20826260,20831524,20833683,20839930,20843132,20859246,20860463,20881953,20922799,20931330,20938465,20959405,20959500,20970553,20970601,20970628,20970643,21047202,21056987,21057378,21063774,21072155,21072184,21076384,21079659,20217131,1972623,1967175,1360409,15934943,9542318,15696166,19626470,19625010,19621425,19617466,19605531,19593168,19584153,19575027,19564743,19558216,19555315,19550405,19546880,19539100,19523815,19513507,19504558,19474786,19470925,19470683,19456124,19447222,19445670,19440975,19433561,19421142,19415824,19415305,19405050,19400747,19393132,19388849,19384845,19384171,19376366,19373654,19360342,19356075,19349543,19349540,19343046,19332043,19331170,19317599,19290795,19289993,19288456,19288029,19285158,19285054,19282874,19282465,19282152,19279227,19267185,19258929,19255821,19250544,19243013,19239339,19239322,19238649,19238367,19238328,19236881,19232333,19228751,19228205,19215299,19207033,19205682,19203783,19197249,19196542,19192650,19188929,19185004,19184162,19183974,19178561,19167193,19165709,19159494,19151448,19143748,19141860,19138818,19137355,19129072,19115152,19114346,19107781,19107762,19106083,19101657,19100412,19099191,19093297,19086053,19074885,19074750,19072639,19072027,19067682,19052456,19048498,19048359,19037199,19034006,19033450,19020725,19010156,19006072,19005482,19005421,19005401,19001875,18996102,18989234,18981011,18981009,18979093,18978522,18972317,18940259,18936931,18936436,18930278,18926661,18855017,18854777,18851956,18851949,18838068,18836089,18829547,18823430,18820766,18819034,18816302,18812689,18812236,18810246,18809583,18804983,18801030,18765553,18760199,18756548,18718676,18717915,18713069,18708991,18708637,18704002,18702631,18696186,18695635,18689982,18688081,18687982,18680196,18676680,18673531,18657537,18654608,18650266,18644389,18641553,18639335,18636247,18628469,18622260,18619980,18619946,18607581,18602086,18596043,18593522,18589174,18588889,18582803,18581211,18581209,18570599,18568776,18559609,18550244,18547906,18543120,18539442,18524988,18518969,18518855,18511651,18509327,18509181,18502461,18494787,18474294,18460034,18444945,18442890,18441325,18436433,18424454,18416940,18414651,18408564,18408562,18408561,18395509,18393221,18391751,18389626,18385010,18382661,18381794,18379872,18377430,18348284,18340565,18338763,18336668,18334915,18334914,18329296,18324624,18318115,18310046,18305404,18303963,18300948,18294295,18287207,18285546,18280247,18279661,18272218,18257092,18243305,18240903,18223462,18223457,18221820,18215618,18214345,18200595,18195061,18192894,18165917,18095031,18091560,18090046,18086475,18080812,18075465,18059532,18058465,18058211,18056183,18035065,18028890,18004247,18003760,18003606,18001833,17963743,17955490,17954267,17952118,17943188,17940136,17938643,17934801,17925548,17924830,17922881,17922049,17919092,17917461,17913323,17913048,17898703,17891478,17890284,17885626,17885624,17880367,17875533,17875118,17852453,17851225,17828778,17828752,17803828,17785057,17706648,17701008,17700595,17700364,17697203,17696319,17690695,17688368,17674045,17671692,17667922,17665184,17662696,17653693,17652833,17636884,17635182,17635180,17635176,17622943,17611654,17610314,17608770,17608636,17596751,17579122,17577681,17568669,17568575,17560460,17559997,17559192,17556798,17551301,17549370,17548929,17548683,17548681,17548493,17545536,17545060,17542018,17541883,17541169,17541155,17534875,17530867,17529887,17526937,17526808,17524504,17523278,17521963,17519790,17517050,17510208,17505995,17495881,17492365,17489883,17488488,17468018,17460550,17445775,17443726,17434155,17425754,17418094,17417072,17409981,17409824,17404720,17394131,17392393,17391324,17387584,17377957,17377214,17376299,17372036,17361121,17354009,17352764,17340137,17332941,17328248,17324111,17312388,17306068,17301693,17301692,17300681,17296590,17286792,17283040,17262810,17262809,17260353,17259654,17255827,17255262,17242936,17225463,17220567,17206635,17202846,17198275,17198259,17192767,17190370,17187507,17185560,17184596,17181924,17178268,17178267,17177989,17165089,17157997,17148776,17148033,17146660,17142980,17125969,17120199,17113599,17113562,17112846,17112845,17112800,17108809,17107902,17100974,17085864,17083370,17080296,17062699,17054409,17050796,17049058,17047492,17043887,17042920,17038891,17033200,17032130,17027968,17020985,17015054,17015051,17011724,16999857,16990202,16969296,16960658,16956878,16953664,16953066,16950614,16946557,16932953,16930597,16929535,16926592,16912957,16906020,16896007,16869811,16857572,16847760,16847425,16844693,16842392,16830791,16827636,16821592,16819187,16800822,16797284,16791115,16788565,16773678,16773437,16771603,16769591,16765145,16753004,16753003,16740770,16733848,16723498,16722833,16721513,16704962,16702732,16691488,16679408,16648557,16633048,16628701,16614510,16608921,16595916,16584389,16580900,16566920,16547352,16542858,16542205,16538177,16531628,16529292,16523342,16521213,16513443,16507781,16505951,16505485,16494108,16492138,16489767,16481289,16478794,16467099,16462040,16434865,16434479,16431292,16413242,16410721,16409819,16386926,16386826,16382445,16382213,16381901,16380805,16374256,16355344,16338277,16338276,16331627,16331555,16321621,16321374,16315033,16306861,16305727,16299241,16288004,16284462,16278398,16278376,16277030,16277027,16267764,16259010,16249748,16239972,16223781,16220110,16214115,16206189,16170863,16168133,16146556,16146331,16142320,16141933,16138358,16138223,16103896,16091741,16083877,16044113,16042669,16042402,16041239,16004559,16002074,15976989,15975076,15974580,15964250,15962371,15961978,15961534,15952872,15950972,15947495,15936020,15931768,15919447,15919446,15917726,15912392,15901749,15886424,15857428,15832500,15814280,15813023,15808585,15801936,15784621,15778422,15778421,15772250,15767512,15750390,15725475,15718846,15717687,15713537,15709212,15707415,15704610,15690482,15685540,15671173,15665957,15659247,15651752,15622315,15618713,15618700,15618625,15598974,15592326,15588114,15570194,15563462,15547738,15543762,15542593,15542248,15536457,15535420,15535131,15521904,15505619,15502717,15498565,15489336,15488952,15487808,15452306,15452305,15382145,15379547,15371983,15351976,15339676,15312098,15288699,15280437,15277258,15272088,15257034,15256718,15247630,15247215,15234575,15226679,15226675,15203864,15179406,15167702,15159385,15138130,15131592,15116055,15115917,15102868,15102684,15089809,15084935,15083070,15081455,15059065,15033457,15015771,14984901,14976162,14962262,14769796,14767809,14752243,14749322,14747421,14711599,14676821,14662772,14646693,14640677,14631505,14610718,14600574,14586389,14583799,14583680,14583679,14583678,14580164,14576852,14563687,14563443,14522974,12969965,12968025,12966368,12960109,12909621,12907627,12879168,12853948,12851703,12848778,12819250,12819037,12817518,12810633,12810067,12805007,12804765,12781336,12777401,12739761,12724617,12711602,12698307,12690205,12686700,12684679,12662900,12653559,12609990,12604403,12593536,12592352,12576456,12566917,12565174,12548153,12545142,12545080,12527911,12512026,12492608,12490309,12485913,12452027,12441809,12437356,12426522,12426521,12424247,12408767,12406646,12392094,12389613,12368167,12360104,12360103,12237135,12226074,12223492,12208746,12202670,12189368,12177731,12175731,12174914,12172213,12172212,12163030,12152989,12145328,12130511,12125964,12112526,12091325,12089380,12084474,12082591,12073053,12070134,12065748,12055198,12031911,12011154,12010657,11990782,11990778,11989822,11986944,11980438,11960367,11949840,11937269,11925925,11908757,11891276,11865062,11855781,11829140,11809184,11786185,11771758,11727264,11697464,11563129,11536079,11503014,11502320,11463358,11356939,11337937,11258197,11240981,11230166,11076863,10790226,10716719,10441477,9885221,9473242,9272126,9038218,9029166,8898203,7909431,7621073,3477522,3027054,2897240,2891692,2876781,2571078,2568832,1976255,19950199,18231753,20540746,20955690,20209493,20658178,20815915,19644155,3768958,17088979,3022150,12493773,18029348,19714749,20338046,20636108,20103600,20403441,20496145,20589615,20844484,20944127,11877091,12477932,17697546,17956668,18088459,18344085,18440836,18718061,19019175,19035180,19170196,19304516,19351508,19352661,19370547,19384922,19437139,19450121,19450124,19460946,19490125,19506903,19552816,19571437,19617332,19619277,19625176,19629677,19631272,19632288,19636001,19639185,19651439,19655414,19659438,19661039,19663671,19663741,19667110,19672706,19685447,19688973,19692168,19694740,19720156,19723047,19729569,19729888,19732422,19737648,19740397,19740399,19745014,19748977,19752884,19760622,19761365,19762492,19769534,19771428,19774638,19784880,19785662,19789190,19796545,19802823,19812066,19815951,19819348,19819701,19832037,19840843,19842932,19844206,19845769,19855314,19858398,19862647,19865079,19878569,19879256,19885591,19885596,19888426,19890215,19891551,19896927,19904007,19916993,19924384,19925383,19930591,19934400,19934793,19940361,19946748,19956635,19956884,19956892,19969351,19997080,20004641,20012601,20017669,20025534,20030680,20031551,20038391,20040338,20060871,20061922,20064729,20078610,20082268,20085590,20110013,20110084,20136364,20146171,20147896,20160155,20166790,20173083,20177420,20179710,20182906,20189873,20195292,20204543,20212519,20233511,20234362,20297661,20304939,20331623,20332423,20354687,20357698,20368715,20368717,20371218,20371868,20376628,20379614,20383212,20388796,20389299,20394729,20403997,20411349,20415563,20417680,20437864,20440618,20448249,20453000,20464493,20468060,20479155,20490798,20491876,20496015,20504240,20505666,20512145,20526235,20528170,20531015,20532504,20533057,20488228,20699370,19913121,20533270,20554493,20563569,20567810,20571034,20578904,20587910,20602612,20602615,20605481,20625352,20625815,20627363,20627697,20628086,20634891,20638924,20660695,20662624,20664232,20679960,20696882,20707787,20712525,20716514,20720558,20801494,20801498,20492723,20510202,20558393,20430184,19958644,20056007,19615260,20525557,20624637,16712791,20372866 2315557,2315573,2315550,2312331,2312343,2315559,2315560,2315562,2315549,2315553,2315556,1598554,1598562,1598563,1598564,1358367,1598558,1598559,1598568,1598560,1358366,2316977,4890020,4890033 5243 AA776371,X58723,NM_000927,NG_011513,AC002457,AC005068,AF016534,AY910577,CH236949,CH471091,M29422,M29423,M29424,M29425,M29426,M29427,M29428,M29429,M29430,M29431,M29432,M29433,M29434,M29435,M29436,M29437,M29438,M29439,M29440,M29441,M29442,M29443,M29444,M29445,M29446,M29447,M37724,M37725,AB208970,AF016535,AK290159,AK308467,AY425005,AY425006,AY425007,BC130424,BQ720763,BQ882401,BX509020,CB164676,CR595422,EU852583,EU854148,M14758 NP_000918,AAM49149,AAB70218,AAW82430,EAL24173,EAW76940,EAW76941,EAW76942,EAW76943,AAA59576,AAA88047,AAA88048,CAA41558,BAD92207,AAB69423,BAF82848,AAR91621,AAR91622,AAR83914,AAI30425,ACF94687,ACF94688,AAA59575,O60213,P08183,Q59GY9,Q6TBL4,CAL38230 Hs.489033 ABC20|CD243|CLCS|GP170|MDR1|MGC163296|P-GP|PGY1 ATP-binding cassette sub-family B member 1|ATP-binding cassette, subfamily B, member 1|P-glycoprotein 1|colchicin sensitivity|doxorubicin resistance|multidrug resistance protein 1 protein-coding 1322567 ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq] 1580863 7766993,10922475,10748049,19343046,19151771,15252450,15215243,12477932,11829140,20877624 23456 NM_012089,AL121990,CH471098,AB013380,AF216833,AF277184,AK172794,BC064930,DQ786241,U18237 NP_036221,CAI22012,EAW69901,BAB20265,AAF78198,AAK07543,BAD18770,AAH64930,AAA84438,Q6ZMF8,Q9BXW0,Q9NRK6 Hs.17614 EST20237|M-ABC2|MTABC2 ABC transporter 10 protein|ATP-binding cassette sub-family B member 10, mitochondrial|ATP-binding cassette transporter 10|mitochondrial ATP-binding cassette 2 protein-coding 1345233 ABCB10P1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1 10922475,7766993 56476 NG_005041,AC116165,AF218417 ABCB10P|M-ABC2|MABC2 pseudo 3516544 ABCB10P3 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3 728248 AC091304,NG_022122,AC138747 pseudo 3418289 ABCB10P4 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4 100132289 AC138749,NG_022102 pseudo 730944 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq] 1580863,1598583,1598580,1598571,1598596,625722,2316977,1598579 18692205,18676680,18668439,18660489,18521185,18395098,18270374,18176959,17622941,17264802,16941683,16890614,16871584,16763017,16749857,16290310,16039748,15791618,15471871,15300568,15159385,15077010,14999697,14762791,12825874,11829140,11815775,11783115,11745042,11600213,11495894,11172067,10579978,9545351,20447715,20683201,9806540,19408031,19343046,19101985,19060910,18987030,20414253,20028269,20147439,19845854,19913121,20628086,20723035,19170196,19571440,19625176,19669124,19692168,19821532,19833092,19888660,19898482,19937311,20010382,20163776,20232290,20379614,20453000,20702406,20855565,20858683,20883210 1598583,1598580,1598596,625722,2316977,1598579 8647 NM_003742,NG_007374,AC008177,AC069137,AC093723,CH471058,CS016617,AB012959,AF091582,AF136523,AK302540,AK303050 NP_003733,AAY24305,AAY24100,EAX11285,EAX11286,EAX11287,CAI54162,BAA88711,AAC77455,AAD28285,BAG63812,BAG64170,O95342,Q53S60,Q9UIL3 Hs.658439 ABC16|BRIC2|BSEP|PFIC-2|PFIC2|PGY4|SPGP ABC member 16, MDR/TAP subfamily|ATP-binding cassette sub-family B member 11|bile salt export pump|progressive familial intrahepatic cholestasis 2|sister p-glycoprotein protein-coding 736946 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq] 1358123,1598588,1598589,1300324,1300325 18231753,20855565,21072184,19467940,19584064,19593667,19998509,20163776,20453000,20422496,7912658,8106172,19408031,19343046,19266607,19261551,19185004,19018976,18781607,18671305,18660489,18482588,18083082,17786139,17726488,17562004,17523162,17264802,17187437,16891356,16890614,16857572,16854530,16763017,16696816,15258199,15159385,15077010,14999697,14527955,12891548,12853948,12746424,12690205,12477932,12388190,12381474,12206920,11745043,11313316,10767346,9923886,9419367,8898203,7912266,7893760,7734012,3477522,2906314,2892668,2002063,9542318,19913121,20628086,20683201,20414253,19840247 1358123,1598588,1598589,1300324,1300325 5244 NM_018849,NM_000443,NG_007118,AC005045,AC005068,AC006154,CH236949,CH471091,EF034088,Z35286,BC020618,BC042531,M23234,X06181,NM_018850,Z35284 NP_061338,NP_061337,NP_000434,AAD05023,EAL24174,EAL24175,EAL24176,EAW76944,EAW76945,EAW76946,EAW76947,EAW76948,EAW76949,EAW76950,EAW76951,EAW76952,ABJ53424,CAA84543,AAH20618,AAH42531,AAA36207,CAA29547,CAA84542,O43249,P21439,Q4G0Q4,Q6PJ81,Q75MQ5 Hs.654403 ABC21|GBD1|MDR2|MDR2/3|MDR3|PFIC-3|PGY3 ATP-binding cassette sub-family B member 4|OTTHUMP00000210458|P glycoprotein 3/multiple drug resistance 3|P-glycoprotein 3|P-glycoprotein-3/multiple drug resistance-3|multidrug resistance protein 3|multiple drug resistance 3 protein-coding 1351002 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM] 20339536,20068175,21212411,20682318,19477512,18202660,17661346,15899824,15760339,15489334,15205344,12960149,12690205,12477932,8894702,9542318,15488952,20729912,20950786 340273 NM_001163941,NM_001163942,NM_001163993,AC002486,AC005060,CH236948,CH471073,AB353947,AF319622,AF399931,AI334015,AK127141,AL040763,AY090613,NM_178559,AY234788,AY785909,AY851364,AY851365,BC044248,BC104894,BC104920,BC110370,BM471690,BX452500,BX537763,CR595059,H99394,AY230001 NP_848654,NP_001157413,NP_001157414,NP_001157465,EAL24273,EAW93726,EAW93727,BAF75364,AAN76500,AAQ03033,AAM09027,AAP55848,AAO73470,AAX11382,AAW31629,AAW31630,AAI04895,AAI04921,A0ASV4,Q2M3G0,EAL24274 Hs.404102 ABCB5alpha|ABCB5beta|EST422562 ABCB5 P-gp|ATP-binding cassette protein|ATP-binding cassette sub-family B member 5|P-glycoprotein ABCB5 protein-coding 731735 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq] 1580863,1300326 10837493,11977179,11955620,19343046,18279659,17661442,17006453,16791740,15489334,14702039,12477932,9288777,9110174,8894702,8619474,20823549,20877624 1300326 10058 AL560811,AW664349,NM_005689,AB039371,AC068946,AF308473,CH471063,AF070598,AF076775,AF308472,AJ289233,AK026067,AK057026,AK172812,AK303230,BC000559,BC043423,CR609962,U66673 NP_005680,BAA96733,AAG33618,EAW70694,EAW70695,EAW70696,EAW70697,EAW70698,EAW70699,EAW70700,EAW70701,EAW70702,EAW70703,EAW70704,EAW70705,AAC28653,AAF75107,AAG33617,CAB95766,BAB71347,BAD18782,BAG64317,AAH00559,AAH43423,Q9NP58,ABM82802,ABM85989 Hs.107911 ABC|ABC14|EST45597|FLJ22414|MTABC3|PRP|umat ATP-binding cassette half-transporter|ATP-binding cassette sub-family B member 6, mitochondrial|OTTHUMP00000206108|P-glycoprotein-related protein|mitochondrial ABC transporter 3|mt-ABC transporter 3|ubiquitously-expressed mammalian ABC half transporter protein-coding 1351480 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia. [provided by RefSeq] 1298634,1598600,1580863 12477932,11843825,11050011,11042152,9883897,9653160,9143506,8894702,17006453,12480705,9621516,10196363,19343046,18398482,17941052,15772651,15489334,14702039,18029348 1298634,1598600 22 AF133659,AK001418,AK294657,AK307414,BC006323,BG722908,BQ630948,BT009918,BX537833,CR612563,AF078777,NM_004299,NG_007980,AF241887,AL359545,AL360179,AL590232,CH471104,AF038950 AAD47141,AAD33045,BAG50910,BAG57829,AAH06323,AAP88920,CAD97847,O75027,Q7Z3K5,ABM81618,ABW03277,NP_004290,AAK20173,CAI41573,CAI41574,CAH70564,CAH70565,EAW98632,EAW98633,EAW98634,EAW98635,EAW98636,EAW98637,AAC39865 Hs.370480 ABC7|ASAT|Atm1p|EST140535 ABC transporter 7 protein|ATP-binding cassette 7|ATP-binding cassette sub-family B member 7, mitochondrial|ATP-binding cassette transporter 7 protein-coding 1316973 ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes. [provided by RefSeq] 1580863 9878413,19343046,19151771,19147539,16344560,14702039,12477932,11829140,9373149,8894702,8125298,16169070,20379614,20877624,19913121,20628086 11194 NM_007188,AC010973,CH471173,AF047690,AF086382,AK002018,AK024401,AK094005,AK094636,AK126885,AK222911,AK294344,AK310796,AK314721,AL117497,BC141814,BC141836,BC151235,CR592221,CR595185,CR599833,CR610778,CR616094,DA147595,DB540313 NP_009119,EAW54056,EAW54057,EAW54058,EAW54059,EAW54060,EAW54061,EAW54062,EAW54063,EAW54064,EAW54065,EAW54066,AAD15748,BAA92038,BAG51294,BAG52795,BAC04392,BAD96631,BAG57613,BAG37265,AAI41815,AAI41837,AAI51236,Q6ZRM3,Q8N1X3,Q9NUT2,AAI43081,AAI46830 Hs.647118 EST328128|M-ABC1|MABC1 ATP-binding cassette sub-family B member 8, mitochondrial|OTTHUMP00000213264|mitochondrial ABC protein|mitochondrial ATP-binding cassette 1 protein-coding 733003 ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, this protein may play a role in lysosomes. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specifications. [provided by RefSeq] 1580863 16344560,10748049,19343046,18952056,18434309,18175933,17977821,16554024,15863492,15491607,15489334,15302935,14702039,13679046,12477932,11829140,11011155,10819331,8894702,8889548,20377823,15577206 23457 BC064384,CA503047,CR592700,CR614075,DA796102,U66676,BC017348,NM_203444,NM_019624,NM_019625,AC026362,AC027290,CH471054,CS071961,CS071963,AB040953,AB045381,AB112582,AB112583,AB177852,AF216494,AK027624,AK074738,AK294225,AK304295,AL833963 AAH17348,AAH64384,Q5W9G7,Q6P2Q0,Q769F3,Q769F4,Q8NCH1,Q8NDJ1,Q9NP78,NP_982269,NP_062570,NP_062571,EAW98353,EAW98354,EAW98355,EAW98356,EAW98357,EAW98358,EAW98359,EAW98360,EAW98361,EAW98362,EAW98363,CAI93387,CAI93388,BAA96044,BAA97989,BAC98409,BAC98410,BAD66830,AAF89993,BAG51360,BAC11171,BAG57529,BAG65152,CAD38811 Hs.511951 EST122234|KIAA1520|TAPL|hABCB9 ABC transporter 9 protein|ATP-binding cassette sub-family B member 9|ATP-binding cassette transporter 9|TAP-like protein|tap-like abc transporter protein-coding 1344624 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternative splicing by exon deletion results in several splice variants but maintains the original open reading frame in all forms. [provided by RefSeq] 631914,1580863 18711657,19019175,19393132,19438741,19513507,19552816,19636555,19672972,19687781,19723058,19851296,19883630,19885582,19897579,19924384,19940267,19948975,19956635,19969351,20004175,20093746,20198315,20200426,20233511,20234362,20453000,20487524,20520284,20532504,2753893,1360704,15999530,19349540,19343046,19291917,19285030,19235593,19214144,19214143,19165709,19129072,19107762,19067123,19065772,19063607,18924151,18851956,18838379,18799096,18775981,18713069,18702307,18690847,18680196,18621020,18439156,18400250,18381794,18336795,18316614,18280247,18256692,18204073,18200595,18056276,18038766,17980150,17925548,17890284,17875533,17852453,17710652,17606722,17596751,17494643,17445775,17350479,17336270,17295059,17264072,17215852,17203221,17050692,17033200,16960658,16946557,16914551,16883578,16821592,16784241,16697012,16621983,16565074,16551273,16547352,16481346,16464259,16410721,16330681,16293801,16278376,16230346,16156793,16041243,16041239,16014004,15856298,15810950,15628876,15623154,15472893,15355964,15269137,15260484,15252017,15245331,15208328,15161912,15155846,14984901,14737110,14722114,14580377,14578045,14561746,12960109,12954620,12954082,12925771,12897808,12890151,12882957,12856092,12783859,12653207,12646196,12628490,12576456,12486126,12458196,12388627,12388549,12235150,12186871,12163030,12146977,12135486,12119019,12084474,12042670,12034727,12018890,11996108,11995968,11986944,11937269,11925441,11820781,11809686,11783953,11771758,11755464,11721885,11689020,11600213,11561076,11557130,11469806,11465409,11439001,11278867,11278596,11266082,11139250,11114332,10950878,10835642,10811882,10493829,10064732,9485377,9441948,9344662,9334225,9295302,8831715,8649356,8098549,7916458,16395283,18029348,20922799,20109555,20388502,20604746,21090806,19875192,19913121,20530282,20628086,20689807,19969624 631914 4363 EF419769,NM_019862,NM_019899,AC003026,AC025778,AC130651,AC136624,AF022853,CH471226,U91318,AB209120,AJ003198,AK311015,BC001636,BX648866,CR749835,L05628,X78338,NM_004996,NM_019900,NM_019898 ABN79590,NP_063953,NP_063915,NP_063954,AAC05808,AAB83979,AAB83980,AAB83981,AAB83982,AAB83983,EAW53936,EAW53937,EAW53938,EAW53939,EAW53940,EAW53941,EAW53942,EAW53943,EAW53944,EAW53945,EAW53946,EAW53947,EAW53948,EAW53949,AAC15784,BAD92357,AAH01636,CAH18691,AAB46616,P33527,Q68CP7,Q9BV39,Q9UQ98,AAI56354,AAI57106,NP_004987,NP_063955 Hs.391464 ABC29|ABCC|DKFZp686N04233|DKFZp781G125|GS-X|MRP|MRP1 ATP-binding cassette sub-family C member 1|LTC4 transporter|leukotriene C(4) transporter|multidrug resistance associated protein 1|multidrug resistance protein|multidrug resistance-associated protein 1|multiple drug resistance protein 1|multiple drug resistance-associated protein protein-coding 1315462 ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1358123 19343046,19082471,17203221,16034073,15256465,14702039,14574404,12566991,12527806,12477932,11146224,8894702,18974132,19118001,19150344,19720054,19841739 1358123 89845 BC024103,CR598420,AL359813,CH471081,AK000002,AK024446,AL122095,AL133613,AY032599,NM_033450,NM_001198934 AAK39642,AAH24103,Q5T3U2,Q5T3U3,Q5T3U5,Q8TBA1,Q9UFG1,AAI66699,NP_258261,CAI23217,CAI23218,CAI23219,CAI23220,EAX04180,EAX04181,EAX04182,EAX04183,EAX04184,EAX04185,BAA92227,BAB15736,CAB59263,CAB63742,NP_001185863 Hs.55879 EST182763|MRP7|SIMRP7 ATP-binding cassette sub-family C member 10|multidrug resistance-associated protein 7 protein-coding 1350146 ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq] 1580863 12764137,19383836,19336370,19240178,17095618,16444273,16359813,15537867,15331440,15277376,12477932,12133003,12076558,11803621,11802779,11688999,11591886,11483364,11435397,19557017,19625231,19644513,19650936,19710689,20718756 85320 NM_145186,NM_032583,NM_033151,NG_011522,AC007600,AC096996,CH471092,AF352582,AF367202,AF411579,AK301547,AL117406,AY040219,BC039085 NP_660187,NP_115972,NP_149163,EAW82715,EAW82716,EAW82717,EAW82718,EAW82719,EAW82720,EAW82721,EAW82722,AAK19755,AAK58869,AAL99902,BAG63044,AAK76739,Q96J66,AAI52903,AAI57085 Hs.652267 EWWD|MRP8|WW ATP-binding cassette protein C11|ATP-binding cassette sub-family C member 11|ATP-binding cassette transporter MRP8|ATP-binding cassette transporter sub-family C member 11|OTTHUMP00000164191|multi-resistance protein 8|multidrug resistance-associated protein 8 protein-coding 1342698 ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq] 1580863 16344560,15489334,14965249,12477932,12011458,11688999,11483364,11435397,20877624,19615732,20379614 94160 AC096996,NM_033226,CH471092,AF395908,AF395909,AF411577,AF411578,AK122635,AK127951,AK302520,AK307109,AK308599,AY040220,AY196326,BC036378,DA096073 NP_150229,EAW82705,EAW82706,EAW82707,EAW82708,EAW82709,EAW82710,EAW82711,EAW82712,EAW82713,EAW82714,AAL79528,AAL79529,AAL99900,AAL99901,BAG53632,BAG63794,AAK76740,AAO40749,Q96J65,AAI46311,AAI48750 Hs.410111 MGC27071|MRP9 ATP-binding cassette sub-family C member 12|ATP-binding cassette transporter sub-family C member 12|multidrug resistance-associated protein 9 protein-coding 1352103 ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1580863 10049586,12477932,16124856,15203202,14759258,12909339,12445816,12036298,10830953,8894702,18668432 150000 CS300709,NR_003087,NR_003088,AF130358,AP001660,AY344118,CH471079,AF418600,AF518320,AF518321,AY063514,AY063515,AY344117,BC144077,DR004370 CAK32373,BAA95546,AAQ65077,EAX10058,EAX10059,AAL99903,AAM70494,AAM70495,AAL47201,AAL47202,AAQ22368,Q9NSE7 Hs.366575 C21orf73|PRED6 ATP-binding cassette protein C13 pseudo 619569 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq] 1358123,2312726,2312728,2312730,631914,1598602,1598558,1598611,1598613,1598614,1598616,1598571,1598605,69812,1580863,704399,2312736,2312809,2317509,2316977,2317508 20530282,20565459,20679960,20720558,12388192,12222674,12130697,12068294,11952788,11937269,11745434,11677213,11500505,11477083,11266082,11093739,11076395,11004020,10573531,10496535,10464142,10361853,10053008,9878557,9525973,9425227,9284939,9185779,8894702,8797578,8662992,20702406,20658178,12477932,16385451,19170196,19421150,19442037,19451719,19480556,19568750,19625176,19636001,19692168,19696793,19730281,19771428,19776292,19842932,19857663,19865079,19885582,19885591,19890061,19937833,19944137,19956635,19956884,20061166,20124171,20147615,20173083,20200426,20204280,20216337,20368715,20453000,16712791,20404332,17485564,12395335,19010343,18981587,18974617,18946804,18926681,18838068,18799096,18697280,18695635,18690847,18676680,18597651,18518855,18509327,18498916,18445995,18439156,18416940,18381794,18381564,18334920,18294295,18221820,18192894,18180270,18176959,18038766,17997497,17925548,17924828,17906856,17890284,17825285,17725603,17622941,17606722,17578901,17534875,17502832,17494643,7559771,19541926,19513507,19494809,19415824,19400747,19349540,19343046,19214140,19167193,19098406,19074644,19038257,19020751,19017997,17478601,17403188,17287630,17241877,17185998,17156953,17145840,17112803,17083032,17060857,17047488,16946557,16821592,16791115,16788565,16771603,16672223,16628674,16542205,16505951,16426233,16341674,16330681,16041239,15922475,15870973,15848949,15801936,15519273,15226675,15211708,15057744,14568249,12960109,12942343,12890151,12704183,12702717,12628490,12615054,12576456,20439344,20102361,20839930,20922799,20943283,20973683,21072184,20082599 1358123,2312726,2312728,2312730,631914,1598602,1598558,1598611,1598613,1598614,1598616,1598605,69812,704399,2312736,2312809,2317509,2316977,2317508 1244 NM_000392,NG_011798,AF144630,AJ132244,AL133353,AL392107,CH471066,CS172499,BC136419,BM765259,CB120555,U49248,U63970,U66683,X96395,GM000488 NP_000383,AAD47599,CAB45309,CAI14502,CAI14503,CAI11010,EAW49852,EAW49853,CAJ33679,AAI36420,AAB09422,AAB39892,CAA65259,Q5TCZ5,Q92887,Q9UN90,CAS97349 Hs.368243 ABC30|CMOAT|DJS|KIAA1010|MRP2|cMRP ATP-binding cassette sub-family C member 2|canalicular multidrug resistance protein|canalicular multispecific organic anion transporter 1|multidrug resistance-associated protein 2 protein-coding 736866 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1358123,2301069,2301064,2301062,2301060,1300327,1598620,1580863,2301067,2325200 19345732,19480556,19956884,20200426,20379614,20453000,20563633,9813153,9738950,19343046,19334674,19114588,19107936,19077464,18799096,18698235,18604784,18593940,18313914,18207572,18038766,17495421,17494643,17485564,17300812,17272513,16946557,16460798,16424827,16278398,15824121,15688370,15167703,14759258,12704183,12628490,12477932,12220224,11850532,11820781,11745434,10772892,10362653,10340910,10094960,9889399,9827529,9270026,8894702,10359813,19937796,19913121,20628086,20922799 1358123,2301069,2301064,2301062,2301060,1300327,1598620,2301067,2325200 8714 NM_003786,NM_001144070,AC004590,AC005921,AJ294545,CH471109,AB010887,AB208954,AF009670,AF083552,AF085690,AF085691,AF085692,AF104943,AF154001,AK000791,BC034683,BC046126,BC050370,BC058907,BC104952,BC127655,BC131755,BC137347,BC137348,BX649137,U83659,Y17151 NP_003777,NP_001137542,CAC69553,EAW94590,EAW94591,EAW94592,EAW94593,EAW94594,BAA28146,BAD92191,AAD01430,AAC34668,AAD02845,AAD02846,AAD02847,AAD04170,AAD38185,AAH46126,AAH50370,AAI04953,AAI37348,AAI37349,AAB71756,CAA76658,O15438,Q2M3C9,Q59H05,Q86VN9,Q96QA9 Hs.463421 ABC31|DKFZp686E22157|EST90757|MLP2|MOAT-D|MRP3|cMOAT2 ATP-binding cassette sub-family C member 3|OTTHUMP00000221669|OTTHUMP00000221670|canalicular multispecific organic anion transporter 2|canicular multispecific organic anion transporter|multi-specific organic anion transporter D|multidrug resistance associated protein|multidrug resistance-associated protein 3 protein-coding 1352399 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in cellular detoxification as a pump for its substrate, organic anions. Alternative splicing results in multiple splice variants encoding different isoforms. [provided by RefSeq] 2301085,1580863 19913121,20628086,7557451,15297306,19515727,19400747,19343046,19138942,19082692,19077464,19073137,18690847,18676680,18662272,18636120,18625884,18615486,18612080,18364470,18045536,17959747,17939016,17903305,17878487,17696930,17682070,17578901,17404579,17229149,17083032,17081983,17003774,16791115,16282361,16156793,15827327,15364914,14643890,12883481,12835412,12792791,12695538,12637526,12523936,12499391,12477932,12133003,12105214,11991713,11856762,10470083,9661885,9270026,8894702,2806887,20727860,20804728,19170196,19399588,19480556,19625176,19692168,19696793,19735648,19903828,19940267,19956635,20018925,20032540,20133816,20200426,20379614,20393862,20547088,20922799,20395535,20530583 2301085 10257 AK309460,AY081219,AY133678,AY133679,AY133680,AY207008,BC041560,BX113883,BX647118,U83660,NM_005845,NM_001105515,AL139381,AL157818,AL356257,AL359750,CH471085,CS223373,AB208973,AF071202,AF071203,AF339763,AF541977,AK290317,AK296247,AK298953 BAH12910,AAL88745,AAN08628,AAN08629,AAN08630,AAO37649,AAH41560,AAB71757,O15439,O75555,Q59GY6,Q8IUA3,Q8IVZ4,Q8IWU1,NP_005836,NP_001098985,CAI16589,CAC36037,CAI16722,EAX08949,EAX08950,EAX08951,EAX08952,CAJ46926,BAD92210,AAC27076,AAC27077,AAN17334,BAF83006,BAH12293 Hs.508423 EST170205|MOAT-B|MOATB|MRP4 ATP-binding cassette sub-family C member 4|MRP/cMOAT-related ABC transporter|bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)|canalicular multispecific organic anion transporter (ABC superfamily)|multi-specific organic anion transporter B|multidrug resistance-associated protein 4|multispecific organic anion transporter B protein-coding 734363 ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is unclear. [provided by RefSeq] 1358123,2301088,1580863,2325200 9325169,9827529,15297306,19343046,19077464,18690847,17803828,17540771,17521428,16156793,15861033,15688370,15631998,15146197,14507663,12695538,12646196,12637526,12477932,12388627,10893247,10840050,10737800,10728601,10721709,10438534,10340910,9270026,8894702,20922799,19913121,20628086,19898482,19903828,19940267,19956884 1358123,2301088,2325200 10057 BC140771,BC142670,BC142719,BC144495,BE085682,BX647245,CN410200,CN429416,CR590924,CR619835,U66687,U83661,NM_001023587,AC068644,CH471052,AB005659,AB019002,AB209103,AB209454,AF104942,AF146074,AL524917,AW207515,AY196484,AY754874,AY754875,AY754876,BC050744,BC051358,NM_005688 AAI40772,AAI42671,AAI42720,AAB71758,O15440,Q29ZA9,Q29ZB1,Q59FK6,Q59GK6,Q86UX3,Q86W30,NP_005679,NP_001018881,EAW78306,EAW78307,EAW78308,EAW78309,EAW78310,BAA22887,BAA76608,BAD92340,BAD92691,AAD04169,AAD37716,AAO49801,AAW82948,AAW82949,AAW82950,AAH50744 Hs.368563 ABC33|DKFZp686C1782|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11 ATP-binding cassette sub-family C member 5|OTTHUMP00000210861|atp-binding cassette, sub-family c (cftr/mrp), member 5a|canalicular multispecific organic anion transporter C|multi-specific organic anion transporter C|multidrug resistance-associated protein 5 protein-coding 734433 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq] 1358123,1580863,1331525,737772,1549868 10913334,10835643,10811882,10585762,10493829,10424734,9892204,9721217,9267806,8894702,4841083,3359381,20801516,20855565,8912525,10835642,19343046,19341707,19339160,19298904,19284998,19240061,19133228,19056482,18850323,18800149,18791038,18439156,18347285,18305351,18253096,18191640,18029147,18024896,17880583,17823974,17724214,17617515,17309461,17045963,16835894,16543900,16392638,16374464,16127278,16086317,15996518,15894595,15889270,15760889,15727254,15723264,15645653,15459974,14631379,12901863,12850230,12714611,12673275,12477932,12384774,12176944,11880368,11776382,11702217,11536079,11439001,11431746,11427982,11179012,11058917,10954200,19904211,19929409,20032990,20075945,20541540,20463007 1358123,1331525,737772,1549868 368 CR609146,DC361874,NM_001079528,NG_007558,AC136624,CH471226,U91318,AF076622,AF168791,AI074459,AK298295,AM711638,AM774324,AY078405,BC050733,BC131732,NM_001171 O95255,Q8TCY8,NP_001162,NP_001072996,EAW53950,EAW53951,EAW53952,AAC15785,AAC79696,AAD51293,BAG60553,CAN84639,CAO81806,AAL83711,AAH50733,AAI31733 Hs.442182 ABC34|ARA|EST349056|MLP1|MOATE|MRP6|PXE|PXE1|URG7 ATP-binding cassette sub-family C member 6|MOAT-E|URG7 protein|URG7 protein; multidrug resistance-associated protein 6|anthracycline resistance-associated protein|liver multidrug resistance-associated protein 6|multi-specific organic anion transporter E|multidrug resistance-associated protein 6 protein-coding 1625838 ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 18405356,12477932 653190 NR_003569,AC136618,AK298443,BC075833 BAH12790 Hs.13188 pseudo 2293908 ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 18405356,15760889,12477932 730013 NR_023387,AC136443,BC015978 Hs.460057 pseudo 733938 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq] 704365,2301903,2301896,2301904,2301898,2301913,2311063,2301911,2313628,2301901,2301906,2301914,2301897,737749,1580863,1598639,1598640,737750,704366,1598635,1625279,1598645,2325205 10506167,10447255,10338089,10334322,10204114,10202168,9769320,9653196,9648840,9618169,9568693,9519757,9135131,9041101,8923011,8751851,8650576,8635661,8630239,7920639,7847376,7716547,12937135,14660679,20410530,7502040,7716548,19498446,19475716,19343046,19139106,19056482,19021632,18996102,18988933,18828733,18796522,18767144,18758683,18679166,18664331,18599530,18596924,18497752,18392808,18390792,18346985,18339976,18290324,18281290,18162506,18025464,18025408,17942822,17942821,17919176,17823772,17668386,17636114,17597441,17593344,17575084,17535866,17516295,17446535,17389331,17378627,17317760,17259403,17213273,17207885,17118480,16897043,16885549,16873704,16613899,16429405,16416420,16373383,16357843,15842514,15840308,15807877,15613469,15579791,15579781,15562009,15356046,15111507,14728986,12941953,12941782,12879777,12540637,12364426,12356945,12213829,12199344,12149601,12118200,11938023,11867634,11825905,11692183,11536079,11318841,11226335,11160857,11018078,10639163,10615958,10506587,19913121,20602615,20628086,20682687,12475776,19254908,19342262,19578796,19587354,19766903,20079163,20164212,20215776,20384434,20453000,20734064,20863361 704365,2301903,2301896,2301904,2301898,2301913,2301911,2313628,2301901,2301906,2301914,2301897,737749,1598639,1598640,737750,704366,1598635,1625279,1598645,2325205 6833 NM_000352,NG_008867,AC124798,CH471064,L78243,U63455,AB209084,AF087138,AK297560,AW444836,DB636549,L40625,L78207,R84665,U63421 NP_000343,EAW68436,EAW68437,AAB02417,AAB02418,AAB36700,BAD92321,AAC36724,BAH12616,AAA99227,AAB02278,AAB36699,Q09428,Q59GM5,AAI67829 Hs.54470 ABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|TNDM2 ATP-binding cassette sub-family C member 8|ATP-binding cassette transporter sub-family C member 8|atp-binding cassette, subfamily c (cftr/mrp), member 8|sulfonylurea receptor (hyperinsulinemia)|sulfonylurea receptor 1 protein-coding 735726 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. No disease has been associated with this gene thus far. Alternative splicing of this gene results in several products, two of which result from differential usage of two terminal exons and one of which results from exon deletion. [provided by RefSeq] 2301909,1580863,1598644,1598645,1598647,1300328 12477932,12356945,12189208,12145195,12107410,11825905,11136227,11054556,11007308,10625598,10498831,10497157,10093054,9755153,9714850,9692785,9457174,8630239,8826984,18026101,19481058,19343046,18996111,18663158,18239147,16820413,16672225,16563363,16267564,16189514,15339904,15034580,14702039,12934053,12738227,19913121,20628086,19952277,19962959,20474083 2301909,1598644,1598645,1598647,1300328 10060 NM_020297,NM_020298,NM_005691,AC008250,AC084806,AF061323,AF061324,CH471094,AK056519,AK092535,AK094171,BC033804,BX537513,BX640893,CA389699,CR619334,NG_012819 NP_064693,NP_064694,NP_005682,AAC16057,AAC16058,EAW96452,EAW96453,EAW96454,EAW96455,EAW96456,EAW96457,EAW96458,EAW96459,EAW96460,BAC04300,AAH33804,O60706,Q8N4N7,Q8N9N1 Hs.446050 ABC37|CMD1O|FLJ36852|SUR2 ATP-binding cassette sub-family C member 9|ATP-binding cassette transporter sub-family C member 9|sulfonylurea receptor 2|sulfonylurea receptor 2A protein-coding 1352747 ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq] 1580863,1598655 16331554,8040304,7668254,8441467,10551832,19343046,19204726,18973459,18481121,18306728,17828604,17761426,17662307,17542813,17504626,17285533,8004093,8002973,7959759,7904210,7849723,7825602,7811247,7717396,7581394,6795626,6524872,1746561,20659892,20376793,16087056,16018167,15781447,15772651,15772093,15643618,15489334,15001567,14767898,14556192,12624723,12579499,12530690,12509471,12477932,12210797,12175782,11992258,11883941,11810273,11798073,11748843,11438993,11248239,10980539,10777694,10737980,10704444,10480364,10369742,10190819,9702690,9215666,9195223,8651290,8566952,8535452,8520725,8507690,16756494,18757502,19406751,19787628,20042197,20889312,20661612 1598655 215 NM_000033,NG_009022,CH471172,DQ305405,U52111,Z31348,AY421736,AY421737,AY421738,BC015541,BC025358,CR590818,CR599919,Z21876 NP_000024,EAW72817,ABC41634,CAA83230,AAR07956,AAR07957,AAR07958,AAH15541,AAH25358,CAA79922,P33897,Q2PRN6,Q6TGM0,Q6TGM1,Q6TGM2,ABM81926,ABM85103 Hs.159546 ABC42|ALD|ALDP|AMN ATP-binding cassette sub-family D member 1|adrenoleukodystrophy protein protein-coding 1353939 ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 9215666,8829626 23785 NG_001246,U90290,X82264 pseudo 1351336 ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 9215666 26983 NG_001270,AL133173,U90288 bA453N3.6 pseudo 1342564 ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 9215666 26982 NG_001269,AC138915,U90289 pseudo 1351987 ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 10591208,9215666 26957 NG_001265,AP000543,U90291 ALD22Q11 pseudo 730967 ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq] 1300329,1580863 10329405,10704444,11883941,10196381,19343046,18834860,18660489,17602313,16344560,16249184,15489334,12477932,10777694,10551832,9345306,9195160,8577752,20661612,20877624 1300329 225 BC104901,BC104903,DB259336,NM_005164,AC121334,AC125491,AF119822,AF119823,AF119824,AF119825,AF119826,AF119827,AF119828,AF119829,AF119830,AF119831,CH471111,U28150,AJ000327,AK314254 AAI04902,AAI04904,Q9UBJ2,BAG36920,NP_005155,AAD30439,EAW57807,AAB00541,CAA03994 Hs.117852 ABC39|ALDL1|ALDR|ALDRP|hALDR ATP-binding cassette sub-family D member 2|adrenoleukodystrophy-like 1|adrenoleukodystrophy-related protein protein-coding 736620 ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863,1300330,1598658 20562859,9521874,10704444,11883941,1301993,19343046,18660489,17602313,16710414,16344115,12477932,12176987,11453642,11248239,10777694,10551832,10447258,9199576,9126326,8726233,8453064,8449508,1536884,1301179,17353931,18029348,20877624,19913121,20628086,20661612,20007743,14702039,19615732,20379614,9922452 1300330,1598658 5825 NM_002858,NM_001122674,NG_008865,AC093117,AC118469,AL138758,CH471097,X83467,AK296791,AK302714,AK308159,BC009712,BC068509,BT006644,BX648715,DC317792,M81182,X58528,AK126440 NP_002849,NP_001116146,CAC15960,EAW73046,EAW73047,EAW73048,EAW73049,EAW73050,CAA58470,BAG59369,BAG63934,AAH09712,AAH68509,AAP35290,AAA60128,CAA41416,P28288 Hs.700576 ABC43|PMP70|PXMP1|ZWS2 70 kDa peroxisomal membrane protein|ATP-binding cassette sub-family D member 3|Peroxisomal membrane protein-1 (70kD)|dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))|peroxisomal membrane protein 1 (70kD, Zellweger syndrome) protein-coding 1316370 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq] 1580863 15800013,12477932,12111378,9599016,9521874,9266848,18029348,19343046,16344560,15909363,9302272,8889548,16169070,20661612 5826 NR_003256,NM_005050,AC005519,CH471061,CQ798278,Y14318,Y14322,Y14323,AF009746,AK291332,AK297934,AK308382,BC012815,BF062605,BI916327,BM667379,BQ893869,BT007412,BX247984,BX248053,CR457104,CR593192,DA713794,DA799558,DC332064 NP_005041,EAW81165,EAW81166,EAW81167,EAW81168,EAW81169,EAW81170,EAW81171,EAW81172,CAG26855,CAA74699,AAB83967,BAF84021,BAH12692,AAH12815,AAP36080,CAD62318,CAD62355,CAG33385,O14678,Q86TW9,Q86U29,ABM83773,ABM87093 Hs.94395 ABC41|EST352188|P70R|P79R|PMP69|PXMP1L 69 kDa peroxisomal ABC-transporter|ATP-binding cassette sub-family D member 4|PMP70-related protein|PXMP1-L|peroxisomal membrane protein 1-like|peroxisomal membrane protein 69 protein-coding 1313249 ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 7539425,11585831,19343046,18189233,18006034,16344560,15809757,15489334,15107989,14747530,20372810,12600646,12578357,12477932,11780123,9877446,9847332,9660177,8838820,8641422,16275648,19615732,19657357,20122402 6059 NM_002940,NM_001040876,AC096757,CH471056,DQ148409,L24115,AB062293,AK315198,BC016283,BC016988,BT009779,CR620765,DA218189,X74987,X76388 NP_002931,NP_001035809,EAX05049,AAZ38723,BAB93476,AAH16283,AAH16988,AAP88781,CAA52920,CAA53972,P61221 Hs.12013 ABC38|OABP|RLI|RNASEL1|RNASELI|RNS4I 2'-5'-oligoadenylate-binding protein|ATP-binding cassette sub-family E member 1|OTTHUMP00000220421|RNase L inhibitor|huHP68|ribonuclease 4 inhibitor|ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor protein-coding 734018 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq] 1580863 9790762,19343046,17894550,17456004,17119950,17081983,16964243,15489334,15345747,15302935,14574404,12477932,10931828,10581359,16169070,19570978,19851445,19912639,21048031 23 CR388372,CR753328,CR759778,CR847863,AB209564,AF027302,AK298061,AK307551,AL832430,BC016772,BC034488,BC112923,BI547952,BM556481,BU620927,CR591008,CR606523,NM_001090,AB023052,AB088096,AB103602,AB202093,AC006138,AL662800,AL662825,BA000025,BX000357,BX119957,BX248518,BX927220,CH471081,NM_001025091 CAQ07871,CAQ07872,CAQ07873,CAQ07874,CAQ07803,CAQ07804,CAQ07805,CAQ09400,CAQ09401,CAQ09402,CAQ10057,CAQ10058,CAQ10059,CAQ10060,BAD92801,AAC70891,EAX03302,BAG60354,CAH10648,AAH16772,AAH34488,AAI12924,Q2L6I2,Q59F96,Q5STZ7,Q5STZ8,Q8NE71,ABM82181,ABM85743,NP_001020262,NP_001081,BAC54928,BAF31263,BAE78612,CAI18156,CAI18157,CAI18158,CAI18159,CAI17835,CAI17836,CAI17837,BAB63325,CAI18561,CAI18562,CAI18563,CAM25906,CAM25907,CAM26015,CAM26016,CAM26017,CAM26018,CAQ09057,CAQ09058,CAQ09059,EAX03300,EAX03301 Hs.655285 ABC27|ABC50 ATP-binding cassette 50 (TNF-alpha stimulated)|ATP-binding cassette sub-family F member 1|TNF-alpha-stimulated ABC protein|TNFalpha-inducible ATP-binding protein protein-coding 1312673 ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This protein is a member of the GCN20 subfamily. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1580863 9878413,19343046,19002184,16996567,16203778,15489334,12853948,12690205,12477932,11435397,11124703,10944468,10922475,10581359,8894702,20877624 10061 NM_005692,NM_007189,AACC02000108,AC021097,CH471173,AF091073,AF261091,AF261092,AJ005016,AL050291,BC001661,BT007451,CR611017 NP_005683,NP_009120,EAL24507,EAL24508,AAS00378,AAS00379,EAW54013,EAW54014,EAW54015,EAW54016,EAW54017,AAC72942,AAG13902,AAG13903,CAA06290,CAB43392,AAH01661,AAP36119,O95324,Q75MJ0,Q75MJ1,Q9UG63,ABM83230,ABM86429 Hs.654958 ABC28|DKFZp586K1823|EST133090|HUSSY-18|HUSSY18|M-ABC1 ABC-type transport protein|ATP-binding cassette sub-family F member 2|Iron inhibited ABC transporter 2|iron-inhibited ABC transporter 2 protein-coding 1321386 ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 16344560,15489334,14702039,12477932,11435397,8894702,16169070 55324 NM_018358,AC131235,CH471052,AK002060,AK024758,AK027288,AK092415,AK097073,AK126150,AK290106,BC009253,BC035652,BC051754,BC051884,CR597756,CR607850,CR616374,DB079392,DC318082,AK299256,AK299433 NP_060828,EAW78288,EAW78289,BAA92063,BAB14989,BAC03881,BAF82795,AAH09253,AAH51754,AAH51884,Q9NUQ8,BAG61287,BAG61411 Hs.361323 EST201864|FLJ11198 ATP-binding cassette sub-family F member 3 protein-coding 732853 ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq] 1580863,1300235 20585627,16702602,15994327,17293612,16870176,17408620,11500512,18490524,16780588,19343046,19287193,19168441,18827283,18660489,18640393,18619413,18599800,18057374,17848583,17761632,17387528,17241464,17187964,17141191,17121837,17082211,17020879,16902247,16857950,16730733,16357317,16054053,16024918,15584507,15492319,15489334,15240127,14702039,12477932,12032171,11590207,11350058,11279031,11162488,11072082,10950923,10830953,10799558,10639163,9110174,20395595,20675829,20713650,9034316,8703120,8659545,8619474,19913121,20057170,20628086,16556852,19481530,19556716,19839639,19895785,19948975,20170916,20931526,20798376 1300235 9619 AB038161,AF323658,AJ289137,AP001622,AP001623,AP001746,CH471079,AF038175,AF323660,AF323661,NM_207174,AF323662,AF323663,AF323664,AK092959,AK292152,AK298491,AL833689,AY048757,BC029158,BX537588,X91249,NM_207627,NM_207628,NM_207629,NM_004915,NM_016818 NP_997057,BAB13728,AAK28833,AAK28834,AAK28835,AAK28836,AAK28837,CAC00730,BAA95530,EAX09574,EAX09575,AAB97364,AAK28838,AAK28839,AAK28840,AAK28841,AAK28842,BAF84841,BAG60699,AAL06598,AAH29158,CAA62631,O43576,P45844,ABM82269,ABW03371,ACE87838,NP_997510,NP_997511,NP_997512,NP_004906,NP_058198,ACT64470 Hs.124649 ABC8|MGC34313|WHITE1 ABC transporter 8|ATP-binding cassette sub-family G member 1|ATP-binding cassette transporter 8|ATP-binding cassette transporter member 1 of subfamily G|OTTHUMP00000109327|homolog of Drosophila white|white protein homolog (ATP-binding cassette transporter 8) protein-coding 1352615 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. [provided by RefSeq] 2315573,2315584,2315568,2315569,2315580,2315587,1580863,2316977 19913121,20530282,20600004,20628086,20670164,20679960,20714133,20720558,17851787,17927879,18315895,18991020,19333723,19340456,19421150,19442037,19477032,19567678,19593328,19629677,19636001,19642144,19670287,19672972,19691360,19696792,19708828,19713741,19751749,19771428,19785662,19825807,19842935,19878569,19885582,19890391,19898482,19921266,19924384,19930591,19940551,19956635,19969351,20019844,20035425,20053405,20088606,20130569,20162742,20162743,20182906,20200437,20203106,20207952,20304939,20307139,20332504,20368174,20389299,20421215,20453000,20103600,20705611,20804740,15813675,15811951,15811555,15807535,15801936,15769853,15670731,15625123,15618737,15607361,15598974,15557326,15489334,15475413,15355921,15260487,15251980,15229462,15208643,15170677,15146167,15044468,15027118,15014037,15014021,15001581,14702039,14613996,14576842,14566825,12960109,12874005,12810652,12741957,12682043,12668685,12604403,12576456,12479221,12477932,12459192,12438926,12429862,12393637,12374800,12369998,12208758,12145683,12111378,12054514,11986944,11948115,11807788,11801536,11688982,11590207,11566359,11533706,11309308,11306452,10070941,9892175,8894702,20399185,20562004,20663031,20682644,20705604,20739628,20839930,20858603,20884846,20922799,20959405,20972558,21054463,21072184,15838659,12958161,9850061,18056989,16870176,9861027,19605531,19584153,19546880,19541926,19523815,19514121,19506252,19503597,19474787,19406100,19403814,19367293,19349540,19343046,19277036,19251825,19240161,19232821,19188929,19172464,19167193,19165709,19141860,19139722,19131524,19114588,19107936,19101070,19074750,19063604,19052456,19032367,19023099,18981009,18958403,18951337,18841445,18841444,18838068,18834626,18829547,18824712,18823676,18820285,18806751,18793608,18775442,18725232,18710444,18702307,18695635,18681776,18668433,18644784,18588889,18573883,18559609,18558430,18509645,18430864,18429968,18408567,18392808,18382425,18370855,18309947,18256692,18255023,18249138,18245481,18240903,18237272,18221820,18207572,18200595,18180275,18167504,18159130,18094074,18055445,18042733,17976197,17975119,17938643,17938326,17934801,17925548,17923155,17916067,17875533,17701580,17690695,17686774,17682070,17671398,17662239,17627617,17622941,17595345,17569884,17534875,17519960,17518356,17505995,17494054,17481587,17460607,17445775,17438106,17434155,17380269,17373578,17347325,17340137,17323127,17312388,17297656,17275084,17273774,17237154,17229149,17228519,17148776,17098188,17032904,16960658,16954373,16847575,16815914,16791115,16749862,16707421,16704962,16618113,16612649,16554028,16543472,16528971,16505951,16460798,16445700,16402910,16367905,16343180,16278398,16278376,16160819,16146333,16108826,16086592,16041239,16024622,16008690,15961534,15917307,15906349,15899516,19782739,19782742,20460431,20437864,20570348,20626554,20728430,20492723,20857515,19967559,20171362,20592365 2315573,2315584,2315568,2315569,2315580,2315587,2316977 9429 DQ459612,NM_004827,AC084732,AC097484,AF356348,CH471057,CQ757490,DQ996467,AB051855,AB056867,AF093771,AF093772,AF098951,AF103796,AF463519,AK002040,AK290000,AY017168,AY288307,AY289766,AY333755,AY333756,BC011032,BC021281,BC092408,BI598784,CR621441,DQ459561,DQ459562,DQ459563,DQ459564,DQ459565,DQ459567,DQ459568,DQ459570,DQ459571,DQ459573,DQ459574,DQ459575,DQ459576,DQ459577,DQ459578,DQ459579,DQ459580,DQ459581,DQ459582,DQ459583,DQ459584,DQ459585,DQ459586,DQ459587,DQ459588,DQ459589,DQ459590,DQ459591,DQ459592,DQ459593,DQ459594,DQ459595,DQ459596,DQ459597,DQ459598,DQ459599,DQ459600,DQ459601,DQ459602,DQ459603,DQ459604,DQ459605,DQ459606,DQ459607,DQ459609,DQ459610,DQ459611,DQ459613,DQ459614,U66681 NP_004818,AAY40902,AAL35305,EAX06012,EAX06013,CAF32512,ABI97388,BAB46933,BAB39212,AAC97367,AAD09188,AAO14617,BAA92050,BAF82689,AAG52982,AAP31310,AAP44087,AAQ92941,AAQ92942,AAH21281,AAH92408,Q4W5I3,Q8WZ76,Q9UNQ0,ABM83234,ABM86433 Hs.480218 ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|MGC102821|MRX|MXR|MXR1 ABC transporter|ATP-binding cassette sub-family G member 2|ATP-binding cassette transporter G2|OTTHUMP00000219514|breast cancer resistance protein|mitoxantrone resistance protein|mitoxantrone resistance-associated protein|placenta specific MDR protein|placenta-specific ATP-binding cassette transporter protein-coding 1347632 ABCG3 ATP-binding cassette, sub-family G (WHITE), member 3 10708515,11178751 64007 AF324242 1314115 ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 The protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. [provided by RefSeq] 1580863 19913121,20628086,16344560,19948975,16870176,16682745,19343046,18668433,18660489,18508037,16902247,15489334,15240127,12477932,12183068,12137944,11856881,11606068,11435397 64137 NM_022169,NM_001142505,AP002956,AY055472,CH471065,AJ300465,AJ308237,AJ308251,AK289830,AK290035,AK308673,AL137563,BC041091,DA093690,DA241043 NP_071452,NP_001135977,AAL16400,AAL16401,AAL16402,EAW67464,EAW67465,EAW67466,CAC17140,CAC87131,BAF82519,BAF82724,CAB70814,AAH41091,Q8WWH0,Q8WWH1,Q8WWH2,Q9H172,Q9NT30 Hs.126378 WHITE2 ATP-binding cassette sub-family G member 4|ATP-binding cassette, subfamily G, member 4|putative ABC transporter protein-coding 732219 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq] 1300331,1580863,1598659,1558629,1598662,1300236 17632509,19019257,19012522,19005228,18996102,18850127,18660489,18641716,18581044,18522623,18457353,18007013,17827468,17690481,17626266,17612515,17403900,17102949,17098593,17055487,16980816,16893193,16614398,16518588,16472606,16250035,15980630,15930516,15816807,15611112,15520451,15311998,15262185,15175352,15121760,14703505,14702039,12477932,12220438,12208868,12208867,12150943,12124998,11907139,11855938,11668628,11590207,20855565,20521169,14504269,17474147,16870176,11099417,19343046,19306529,19270375,19217458,19111681,19060911,11452359,11435688,11138003,9727073,19913121,20581104,20602615,20628086,20679960,19692220,19878569,19917453,19956635,20170916,20172523,20210363,20370913,20403997,20413122,20497293 1300331,1598659,1558629,1598662,1300236 64240 NM_022436,NG_008883,AC011242,AC108476,AF404106,AF404107,CH471053,AF312715,AF320293,AK091997,BC111541,BC111542 NP_071881,AAY14703,AAY24010,AAK85387,AAK85388,EAX00286,EAX00287,EAX00288,AAG53099,AAG40003,AAI11542,Q2T9G2,Q53QN9,Q53T83,Q96QZ2,Q96QZ3,Q9H222,AAI72287 Hs.132992 STSL ATP-binding cassette sub-family G member 5|ATP-binding cassette, subfamily G, member 5|OTTHUMP00000201654|sterolin 1|sterolin-1 protein-coding 732770 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq] 1300331,1601097,1580863,631968,1558629,1598662,1601095,1601094,1300237 19170196,19692168,19692220,19878569,20163776,20170916,20172523,20210363,20235787,20370913,20379614,20403997,20413122,20497293,20529992,20854103,21039838,21062971,20581104,20837016,14504269,16870176,11099417,19343046,19306529,19270375,19217458,19111681,19060906,19056482,19019257,19018975,19012522,19005228,18977479,18850127,18676680,18660489,18641716,18581044,18522623,18457353,18007013,17827468,17690481,17632509,17626266,17612515,17403900,17102949,17098593,17055487,16980816,16893193,16518588,16472606,15930516,15816807,15611112,15520451,15331430,15311998,15262185,15175352,14703505,12477932,12220438,12208868,12208867,12150943,12124998,12111378,11893785,11668628,11590207,11452359,20592455,20594224,20679960,19060911 1300331,1601097,631968,1558629,1598662,1601095,1601094,1300237 64241 NM_022437,NG_008884,AC108476,AF351824,AF404106,AF404107,CH471053,AF320294,AF324494,BC113657,BC143564 NP_071882,AAY24011,AAK84663,AAK85386,AAK85389,EAX00285,AAG40004,AAK84078,AAI13658,AAI43565,Q14CR0,Q96A01,Q9H221,ADR83246 Hs.413931 GBD4|MGC142217|STSL ATP-binding cassette sub-family G member 8|ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)|ATP-binding cassette, subfamily G, member 8|atp-binding cassette, sub-family g (white), member 8|sterolin 2|sterolin-2 protein-coding 1322201 ABHD1 abhydrolase domain containing 1 This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq] 12735795,15815621,15489334,14702039,12477932,11922611 84696 NM_032604,AC013403,CH471053,AK074615,AK093447,AY033290,BC028378,BC031868,BC039576,BC056403,DB455979 NP_115993,AAX93169,EAX00631,EAX00632,EAX00633,EAX00634,BAG52718,AAK44222,AAH39576,Q96SE0 Hs.375791 FLJ36128|LABH1 OTTHUMP00000200960|abhydrolase domain-containing protein 1|lung alpha/beta hydrolase 1 protein-coding 1346003 ABHD10 abhydrolase domain containing 10 737633,1580863 16381901,15489336,15489334,14702039,12477932,11256614,11076863,20379614,20877624,20562859 737633 55347 AK300018,AL713726,BC014516,CR623900,DB453330,NM_018394,AC060225,CH471052,AK002204 BAA92133,BAH13194,CAD28516,AAH14516,Q9NUJ1,CAL37438,NP_060864,EAW79688,EAW79689 Hs.477115 FLJ11342 OTTHUMP00000214654|abhydrolase domain-containing protein 10, mitochondrial protein-coding 1606493 ABHD11 abhydrolase domain containing 11 This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 17567985,16381901,15498874,15489336,15489334,12853948,12477932,12073013,11076863,20877624 83451 NR_026912,NM_148912,NM_148913,NR_026910,AC073846,CH471200,NM_001145364,AF412030,AF412031,AF412032,AY053499,AY053500,BC008251,BC011712,BC067750,BG722364,BM557977,BP423415,BP872816,CB998040,DB460434,DR006453,AF217971 NP_001138836,NP_683710,NP_683711,AAS07472,EAW69642,EAW69643,EAW69644,EAW69645,EAW69646,EAW69647,Q8NFV4,CAL37753,CAL38343,ABM82430,ABM85622,AAG17214,AAM62312,AAM62313,AAM62314,AAL14848,AAL14849,AAH08251,AAH11712,AAH67750 Hs.647045 PP1226|WBSCR21 OTTHUMP00000211794|OTTHUMP00000211795|OTTHUMP00000211796|Williams Beuren syndrome chromosome region 21|abhydrolase domain-containing protein 11|williams-Beuren syndrome chromosomal region 21 protein protein-coding 1314604 ABHD12 abhydrolase domain containing 12 16303743,15489334,14702039,12477932,11780052,20797687,17207965 26090 NM_015600,NM_001042472,AL121772,AL353812,CH471133,AK075023,AK290815,AK293495,AL117442,BC014049,BQ672998,BQ961739,CR600960,CR604672,CR612220,CR614685,CR617070,CR624082,CR625101,BQ574269 NP_056415,NP_001035937,CAI23474,CAI23475,CAI13761,CAI13762,CAI13763,EAX10088,EAX10089,EAX10090,BAC11357,BAF83504,BAG56982,CAB55927,AAH14049,Q8N2K0,ADQ32650 Hs.441550 ABHD12A|BEM46L2|C20orf22|DKFZp434P106|PHARC|dJ965G21.2 2-arachidonoylglycerol hydrolase|abhydrolase domain-containing protein 12|chromosome 20 open reading frame 22|monoacylglycerol lipase ABHD12 protein-coding 1349841 ABHD12B abhydrolase domain containing 12B 18029348,15489334,14702039,12477932 145447 NM_181533,NM_181814,AL358334,CH471078,AK057860,AK128464,AY311396,AY311397,AY311398,AY311399,BC034603,BC107141,BC107142 NP_853511,NP_861535,EAW65688,EAW65689,EAW65690,EAW65691,BAC87452,AAP78476,AAP78477,AAP78478,AAP78479,AAH34603,AAI07142,AAI07143,Q7Z5M8 Hs.271896 BEM46L3|C14orf29|MGC129926|MGC129927|c14_5314 abhydrolase domain-containing protein 12B protein-coding 1318018 ABHD13 abhydrolase domain containing 13 18951430,16303743,15489334,15057823,14702039,12477932,19773279 84945 NM_032859,AL157762,CH471085,AK027812,AK075195,AK124864,BC018608,BC022566,BC070226,BQ424339,BX647428,CR597257,CR609193 NP_116248,CAH70630,EAX09097,EAX09098,BAB55387,BAG54109,AAH22566,AAH70226,Q7L211 Hs.183528 BEM46L1|C13orf6|FLJ14906|MGC27058|RP11-153I24.2|bA153I24.2 abhydrolase domain-containing protein 13|chromosome 13 open reading frame 6 protein-coding 1601874 ABHD14A abhydrolase domain containing 14A 15489334,15146197,14667578,12975309,12477932,8889548 25864 NM_015407,AC115284,CH471055,AK308592,AL050015,AY358201,BC002571,BM665207,CN256406 NP_056222,EAW65180,CAB43237,AAQ88568,AAH02571,Q9BUJ0,ACE87593,ACE86906 Hs.334707 DKFZp564O243|DORZ1|FLJ60317|FLJ60467 OTTHUMP00000212482|abhydrolase domain-containing protein 14A protein-coding 1603002 ABHD14B abhydrolase domain containing 14B 16344560,16303743,15489334,14702039,12477932,11053859,8889548 84836 NM_001146314,NR_027476,AC115284,CH471055,CQ783024,CQ783152,CS072398,AK075112,AK092152,AK096073,AK296599,AK298022,AK298813,BC007234,BC050650,BC056411,BC071931,BU732936,CR591374,CR593174,CR594095,NM_032750,CR594176,CR597250,CR601284,CR604040,CR606468,CR607238,CR608753,CR611046,CR611150,CR611183,CR611510,CR612921,CR615577,CR616912,CR620456,CR621320,CR621371,CR622247,CR625207,CR626150,CR626819,DA315486,CS488917 NP_116139,NP_001139786,EAW65178,EAW65179,CAF86231,CAF86358,CAI93536,BAC11408,BAC04696,BAG59212,BAG60325,BAG60946,AAH07234,AAH50650,AAH56411,Q96IU4,CAM55991 Hs.420796 CIB|MGC15429 CCG1-interacting factor B|OTTHUMP00000212469|abhydrolase domain-containing protein 14B|cell cycle gene 1-interacting factor B protein-coding 1605591 ABHD15 abhydrolase domain containing 15 14702039,12975309,12477932 116236 NM_198147,AC104564,CH471159,AK055889,AK056717,AY358212,BC012476 NP_937790,EAW51191,AAQ88579,AAH12476,Q6UXT9 Hs.106510 abhydrolase domain-containing protein 15 protein-coding 1322825 ABHD2 abhydrolase domain containing 2 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq] 1580863 18029348,17980156,16344560,15489334,14702039,12477932,11922611,9373149,8125298,2843827,20007591 11057 NM_007011,NM_152924,AC013565,AC124068,CH471101,AF546700,AI916724,AK000554,AK095685,AK125089,AK127559,AK222841,AK223083,AK290340,AK296827,AL109729,AL110291,BC017905,BC019248,BC090052,BI459790,BI464471,DB024314,DB049736,DC369843,DC397201,X12433,AI918734 NP_008942,NP_690888,EAX02033,EAX02034,EAX02035,AAQ12021,BAD96561,BAD96803,BAF83029,BAG59397,AAH19248,AAH90052,CAA30976,P08910,ABM82555,ABW03395 Hs.122337,Hs.705984 HS1-2|LABH2|MGC111112|MGC26249|PHPS1-2 abhydrolase domain-containing protein 2|alpha/beta hydrolase domain containing protein 2|lung alpha/beta hydrolase 2|protein PHPS1-2 protein-coding 1321686 ABHD3 abhydrolase domain containing 3 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq] 12477932,11922611,9110174,8619474,17207965,16344560,15489334 171586 NM_138340,AC106037,CH471088,AF007152,AK024880,AK024992,BC021196,CR598343,CR605248,DB126083,AK298728,EF444943 ADQ32713,NP_612213,EAX01131,AAC19155,AAH21196,Q8WU67,ACA05928,BAH12858 Hs.397978 LABH3|MGC11259 abhydrolase domain-containing protein 3|alpha/beta hydrolase domain containing protein 3|lung alpha/beta hydrolase 3 protein-coding 1323534 ABHD4 abhydrolase domain containing 4 1580863 18029348,16818490,15489334,14702039,12477932 63874 NM_022060,AL160314,CH471078,AK022878,AK024790,AK293198,AK298127,AK301315,BC024779,CR610790 NP_071343,EAW66251,BAB14289,BAG56738,BAG60407,BAG62866,AAH24779,Q8TB40 Hs.445665 ABH4|FLJ12816 abhydrolase domain-containing protein 4|alpha/beta-hydrolase 4|lyso-N-acylphosphatidylethanolamine lipase protein-coding 1342875 ABHD5 abhydrolase domain containing 5 The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq] 1598668,1580863 18832586,18606822,18339307,17631826,17495960,17308334,16679289,15967942,15489334,12477932,11590543,10810093,9110174,8619474,20307695,20520629,15136565,19061969,19401457,20370797 1598668 51099 NM_016006,NG_007090,AC105903,AL606838,CH471055,AF007132,AF151816,AK313811,BC021958,BG721387 NP_057090,CAD12731,EAW64699,AAD34053,BAG36547,AAH21958,Q8WTS1,ABM82101,ABM85283 Hs.19385 CDS|CGI58|IECN2|MGC8731|NCIE2 1-acylglycerol-3-phosphate O-acyltransferase ABHD5|abhydrolase domain-containing protein 5|lipid droplet-binding protein CGI-58 protein-coding 1351429 ABHD6 abhydrolase domain containing 6 16344560,15489334,14702039,12477932,9373149,8125298,18360779,19793082 57406 NM_020676,AC098479,AC137936,CH471055,AF225418,AK122983,AK172797,AK225942,AK313168,BC001698,CR589982,DA266414 NP_065727,EAW65360,EAW65361,EAW65362,EAW65363,EAW65364,EAW65365,AAG09720,BAG53832,BAD18771,BAG35986,AAH01698,Q9BV23,Q9HBL9 Hs.476454 2-arachidonoylglycerol hydrolase|OTTHUMP00000214181|abhydrolase domain-containing protein 6|lipase protein|monoacylglycerol lipase ABHD6 protein-coding 1313870 ABHD8 abhydrolase domain containing 8 This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. 737633,1580863 16344560,15489334,14702039,12477932,9373149,20852631,8125298 737633 79575 EU285559,NM_024527,AC010463,CH471106,AK021805,AK225140,AK225340,AK315366,BC007895,BC011536,BC020173,BC039087,CR603220,CR618792,DA137174,DA357595,AK298251 ABZ79723,Q96I13,NP_078803,EAW84589,BAB13900,BAG37759,AAH07895,AAH20173,AAH39087,BAG60516 Hs.515664 FLJ11743|MGC14280|MGC2512 abhydrolase domain-containing protein 8 protein-coding 1604650 ABI1 abl-interactor 1 The protein encoded by this gene has been found to form a complex with EPS8 and SOS1, and is thought to be involved in the transduction of signals from Ras to Rac. In addition, the encoded protein may play a role in the regulation of EGF-induced Erk pathway activation as well as cytoskeletal reorganization and EGFR signaling. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq] 11516653,15032605,15289329,16055720,16344560,16385451,19158278,19843640,20110575,20193272,8943360,15489334,15164054,15048123,12681507,12672821,12665801,12547160,12522270,12477932,12127568,12011975,11956071,11557983,11418237,11099046,11034908,11003655,10995551,10499589,9694699,1049958,14565974,15696170,9593709,9010225,17101133,18328268,17951403,17943163,17501982,17081983,16899465,16225669,16182283,15893754,15769844,15657136,15591787,19554484,16417406,20479892,20598684 10006 AK315914,DB019974,FJ380057,FJ380058,FJ380059,NM_001178116,NM_001178119,NM_001178120,NM_001178121,NM_001178122,NM_001178123,NM_001178124,NM_001178125,AK298646,BC013238,BC024254,CR622396,U87166,NM_001012751,NM_001012750,NM_005470,AJ277065,AL139404,AL390961,CH471072,AB040151,AB209268,NM_001012752,AF001628,AF006516,AF260262,AF540955,AK126803,AK291823,AK296751 ACJ12783,ACJ12784,ACJ12785,BAH14285,NP_001171587,NP_001171590,NP_001171591,NP_001171592,NP_001171593,NP_001171594,NP_001171595,NP_001171596,BAG59334,BAG60820,AAH24254,AAC39757,Q59G41,Q8IZP0,NP_001012770,NP_001012769,NP_001012768,NP_005461,CAB88006,CAH73112,CAH73113,CAH73114,CAH73115,CAH73116,CAH73117,CAH73118,CAH73119,CAI17272,CAI17273,CAI17274,CAI17275,CAI17276,CAI17277,CAI17278,CAI17279,EAW86077,EAW86078,EAW86079,EAW86080,EAW86081,EAW86082,EAW86083,BAB55675,BAD92505,AAD00897,AAB62569,AAF70309,AAN28379,BAG54374,BAF84512 Hs.508148 ABI-1|E3B1|NAP1BP|SSH3BP|SSH3BP1 Abelson interactor 1|Abl-interactor protein 1 long|OTTHUMP00000019350|OTTHUMP00000019351|abl interactor 1|abl-binding protein 4|ablBP4|eps8 SH3 domain-binding protein|eps8 binding protein|eps8-binding protein|interactor protein AblBP4|nap1 binding protein|nap1-binding protein|spectrin SH3 domain binding protein 1|spectrin SH3 domain-binding protein 1 protein-coding 1351473 ABI1P abl-interactor 1 pseudogene 326268 NG_002531,AL138499 ABI1P|SSH3BP1P pseudo 1353143 ABI2 abl-interactor 2 1580863 7590236,8649853,12011975,11516653,17101133,19158278,18632609,17903303,17389688,16488906,15489334,15146197,14702039,12477932,10995551,10964520,10498863,12463424,10858458,12569093,16189514,15509564 10152 AC018891,AC080075,CH471063,AF085867,AF260261,AK054863,AK294429,AK297537,AK299092,AK299672,AK299679,NM_005759,AK299688,AK299750,AK299824,AK302853,AK316000,AK316343,BC001439,BC033944,BT009920,CN371368,CR606036,DB455742,U23435,U31089,X95632 NP_005750,AAY14675,AAY14935,EAW70335,EAW70336,EAW70337,EAW70338,EAW70339,EAW70340,EAW70341,EAW70342,EAW70343,AAF70308,BAG57674,BAG59937,BAH12947,BAH13098,BAG61587,BAH13103,BAG61640,BAG61693,BAH13822,BAH14371,BAH14714,AAH01439,AAP88922,AAA92289,AAA75446,CAA64885,Q13802,Q53RS4,Q53SH3,Q9NYB9,ABM81661,ABM84833 Hs.471156 ABI-2|ABI2B|AIP-1|AblBP3|SSH3BP2|argBPIA|argBPIB OTTHUMP00000206182|OTTHUMP00000206183|OTTHUMP00000206184|OTTHUMP00000206185|abelson interactor 2|abl binding protein 3|abl interactor 2|abl-binding protein 3|abl-interacting protein 1 (SH3-containing protein)|abl-interactor protein 2b|arg protein tyrosine kinase-binding protein|arg-binding protein 1|argBP1 protein-coding 1323432 ABI3 ABI family, member 3 This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates Rac-dependent actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. [provided by RefSeq] 11501947,11956071,17101133,16381901,16189514,15489336,15489334,12477932,12011975,11230166,11076863,10978530,11256614,19060904 51225 NM_016428,NM_001135186,AC004797,AC069454,CH471109,AA808681,AB037886,AL136709,BC007780,BI768790,CR608488,CR621565 NP_057512,NP_001128658,EAW94687,BAA90667,CAB66644,AAH07780,Q9P2A4,CAL37657,CAL37800,ABM84016,ABM87361 Hs.130719 NESH|SSH3BP3 ABI gene family member 3|ABI gene family, member 3|new molecule including SH3 protein-coding 1349467 ABI3BP ABI family, member 3 (NESH) binding protein 11501947,20936779,12477932,19338757,19240061,18559958,16344560,16205947,15752759,15489334,14702039,21041247 25890 NM_015429,AC068763,AC069223,AC080014,AC093009,AC106721,CH471052,AB056106,AK025204,AK093861,AK123737,AK123748,AK299938,AL117664,AL162038,AL833204,BC030221,BX648726,DA342832 NP_056244,EAW79804,EAW79805,EAW79806,EAW79807,EAW79808,EAW79809,EAW79810,EAW79811,BAB32867,BAB15083,BAG52776,BAC85685,BAC85687,BAG61771,CAB56034,CAI46190,AAH30221,Q5JPC9,Q7Z7G0,Q9H717,ACE87467,ACE86781 Hs.477015 FLJ41743|FLJ41754|NESHBP|TARSH ABI gene family member 3-binding protein|ABI gene family, member 3 (NESH) binding protein|nesh-binding protein|target of Nesh-SH3 protein-coding 1342972 ABL1 c-abl oncogene 1, receptor tyrosine kinase The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. [provided by RefSeq] 1580863,1598673 20581864,19108887,19075013,19061839,19052872,19048492,19020542,19016792,19001122,18950845,18936177,18827185,18809728,18794796,18784740,18775312,18771174,18765637,18704194,18687796,18619508,18603549,18546844,18538733,18490454,18480061,18480060,18427551,18413724,18406870,18401414,18391983,18369471,18362889,18339898,18305550,18305217,18287094,18262060,18180382,18161990,18095154,18089786,18082628,18059481,18036399,17972958,17943163,17928051,17925491,17893873,17889935,17804707,17768119,17764157,17762503,17761812,17710227,17695727,17638918,17623672,17620332,17604596,17599053,17597804,17587335,17579186,17570524,17541395,17525531,17486070,17470736,17470729,17374743,17366548,17349636,17347407,17339230,17303698,17268511,17252009,17237826,17196995,9144171,8242749,11971963,10391249,12893824,12944467,19442657,19427856,19383348,19332026,19285032,19275932,19260121,19234221,19203793,19180499,19156526,19135771,19124506,17160020,17126298,17101133,17081983,16998483,16966279,2687768,2678002,2542016,2193202,2183353,2163052,1868241,1857987,1538749,1505033,1383690,1379745,1281542,7926767,9820532,8978305,9747873,9006901,11827972,8810278,9774693,10753870,11071635,9008161,12543778,8112292,1712671,11431473,11790798,9071815,9872323,7565761,10608806,8294442,12681507,15886098,15735735,9632788,10571082,20425353,20482842,20633771,20697350,19768693,20974687,17192257,16912036,10945997,8114715,15661746,15657136,15657060,15626746,15608616,15591787,15588985,15583852,15542838,15481444,15361874,15175272,15143187,14993251,14966468,14745431,14679214,14670960,14657955,14581377,14534537,14527680,12952226,16899465,16867995,16678104,16636310,16630659,16543148,16448696,16410245,16386788,16205638,16199863,16158059,16151465,16091742,16014719,15961388,15857938,15735728,15723338,15716990,15696159,15686624,12928501,12921956,12890867,12824179,12810679,12781448,12777400,12777393,12764153,12672821,12665579,12663457,12654250,12650908,12637538,12623848,12573241,12569093,12560071,12556557,12525554,12522270,12505259,12477932,12475393,12468540,12445832,12408765,12393636,12384576,12379650,12374739,12374288,12220663,12198159,12149456,12144533,12138893,12130516,12110584,12024016,12021275,11956190,12950161,12130510,11955625,11891774,11853795,11840343,11781820,11780146,11741929,11708318,11598012,11593427,11509666,11494134,11494128,11423618,11420673,11418237,11390389,11380621,11375976,11374898,11350980,11309382,11279131,11278340,11266449,11163214,11121037,11120811,11024037,11021760,10988075,10970852,9516488,9480911,9461559,9407116,9356459,9334312,9315092,9312071,9211900,9168117,9168116,9111318,9067577,9010225,8943360,8879209,8875975,8692915,8668151,8668148,8630736,8629002,8590002,8453102,8438166,9583676,8194526,10892742,10849448,10777567,10713716,10708759,10679771,10637231,10635328,10629029,10574931,10567556,10488096,10455176,10391251,10391250,10212258,10194451,10187839,9949177,9798959,9698566,9642287,9632734,9603926,9593709,10896159,7892170,7828850,7780740,7760813,7665185,7590236,7545908,7533294,7512963,7493940,6323103,6319012,6316147,6302194,6281890,6191223,4062888,3471171,3313010,3023859,3021337,2989703,2989692,2825022,12626632,19697154,20367437,20595523,20563669,10837221,12107171,12379115,14725908,16219545,16648821,16831423,16888623,17129785,17254966,17474147,17888034,17956664,18280240,18614052,19261608,19295548,19357699,19363261,19369965,19423701,19542604,19557636,19571320,19608682,19625707,19643477,19652056,19657362,19658100,19660459,19679652,19724931,19738611,19789182,19829692,19833721,19876398,19897486,19906645,19914245,19954044,20007699,20010464,20038234,20056178,20073070,20079431,20082857,20124512,20152788,20201926,20234815,20453000,20512393,20585028,20629032,20598684,20697894,20823226,15923648,19968720,20717963,20724541,20937825,18029348,20452982 1598673 25 NM_007313,NM_005157,NG_012034,AL161733,AL359092,CH471090,DQ145721,K00009,M13099,M25949,S69223,U07563,AA524892,AB209456,AB209642,AF113911,AJ131466,AK294983,AL707819,BC107069,BC107070,BC117451,CA335983,CR598308,CR614023,M14752,M14753,M14754,M25946,M30833,X16416 Q3B837,Q59F19,Q59FK4,BAG58052,Q3B836,NP_009297,NP_005148,CAM45754,CAM45755,CAM45756,EAW87947,EAW87948,EAW87949,AAZ38718,AAA51895,AAA51896,AAA35593,AAD14034,AAB60393,AAB60394,BAD92693,BAD92879,AAD04633,CAA10376,AAI07070,AAI07071,AAI17452,AAA51561,AAA51562,AAA51563,AAA35697,AAA88011,AAA88012,CAA34438,P00519,Q13688,Q13689,Q13690,Q13691,Q13848,Q13914,Q13915,Q14020 Hs.431048 ABL|JTK7|bcr/abl|c-ABL|p150|v-abl bcr/c-abl oncogene protein|c-abl oncogene 1, receptor tyrosine kinase|proto-oncogene c-Abl|proto-oncogene tyrosine-protein kinase ABL1|tyrosine-protein kinase ABL1|v-abl Abelson murine leukemia viral oncogene homolog 1|v-abl abelson murine leukemia viral oncogene homolog 1 protein-coding 1352263 ABL2 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinase. The protein is highly similar to the ABL1 protein, including the tyrosine kinase, SH2 and SH3 domains, and has a role in cytoskeletal rearrangements by its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ETV6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq] 1580863 15886098,17474147,12893824,2198571,19275932,18810762,18660502,17192257,17081983,9774693,15735735,20150913,20936779,16710414,16678104,16344560,15765532,15729383,15679048,15489334,14702039,12950161,12777400,12748290,12569093,12522270,12477932,12406085,12374288,12220663,12198159,11956190,11494128,11278261,10706884,10590083,10521789,9642287,9480911,9373149,9211900,8875975,8700546,8125298,3787260,1383690,10892742,20077570,20448119,19913121,20628086,20800603 27 NM_007314,NM_005158,NM_001136000,NM_001136001,AL139132,AL359179,AL512326,CH471067,DQ009672,M14904,AK025877,AK056280,AK225255,AK309549,AK311045,BC065912,BQ014912,BX538317,DA596675,DB280398,FJ542283,FJ542284,FJ542285,FJ542286,M35296,NM_001168236,NM_001168237,NM_001168238,NM_001168239 NP_009298,NP_005149,NP_001129472,NP_001129473,CAH70921,CAH70925,CAI15584,CAI15585,CAI13566,CAI13570,EAW91040,EAW91041,AAY16984,AAH65912,ACK76601,ACK76602,ACK76603,ACK76604,AAA35553,P42684,NP_001161708,NP_001161709,NP_001161710,NP_001161711 Hs.159472 ABLL|ARG|FLJ22224|FLJ31718|FLJ41441 Abelson murine leukemia viral (v-abl) oncogene homolog 2|Abelson-related|OTTHUMP00000033140|OTTHUMP00000218101|OTTHUMP00000218102|OTTHUMP00000218103|OTTHUMP00000218104|OTTHUMP00000218106|OTTHUMP00000218107|OTTHUMP00000218108|abelson murine leukemia viral oncogene homolog 2|abelson-related gene protein|arg tyrosine kinase|tyrosine-protein kinase ABL2|tyrosine-protein kinase ARG|v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 1346152 ABLIM1 actin binding LIM protein 1 This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 16385451,20936779,9245787,16189514,17081983,16094384,15592455,15570572,15489334,15324660,15302935,15144186,15024025,14702039,12477932,12168954,9417918,8889548,7584044,7566098,15778465,20970119,16712791,20549515 3983 AK297344,NM_001003408,NM_002313,NM_006720,AL133384,AL354873,AL590109,CH471066,AA314019,AF005654,AI680726,AK054890,AK057834,AK058007,AK093471,AK098277,AK122891,AK298709,AL600892,AL710059,AL712271,AW627433,BC002448,BE395092,BE672277,BG426037,NM_001003407,BQ721521,CA450184,CB128609,CD558045,CR749819,D31883 BAH12557,NP_001003407,NP_001003408,NP_002304,NP_006711,CAI40131,CAI40132,CAI40133,CAI40134,CAI40135,CAI40136,CAI40137,CAI40140,CAI40141,CAI10906,CAI10907,CAI10908,CAI10909,CAI10910,EAW49467,EAW49468,EAW49469,AAC51676,BAG52725,BAG53605,BAG53784,BAG60865,AAH02448,CAH18679,BAA06681,O14639,Q5JVU6,Q5JVV0,Q5JVV2,Q5T6N2,Q5T6N6 Hs.438236,Hs.538331,Hs.593868 ABLIM|DKFZp781D0148|FLJ14564|KIAA0059|LIMAB1|LIMATIN|MGC1224 LIM actin-binding protein 1|OTTHUMP00000020532|OTTHUMP00000020533|OTTHUMP00000020534|OTTHUMP00000020535|OTTHUMP00000020537|abLIM-1|actin-binding LIM protein 1|actin-binding LIM protein family member 1|actin-binding double zinc finger protein|actin-binding double-zinc-finger protein protein-coding 1349528 ABLIM2 actin binding LIM protein family, member 2 20379614,17194709,16005990,15489334,14702039,12477932,11347906,10737800,9847074,8889548,18029348,20936779 84448 NM_001130086,NM_001130085,NM_001130084,NM_001130083,NM_001130087,NM_001130088,AC097381,AC104650,AC114807,CH471131,AB058711,AJ748600,AJ748601,AK094754,AK094798,AK097003,AK130044,AK301060,AL834195,BC067214,BC122567,BE155865,BM718728,BQ005420,BQ267829,DB499366,NM_032432,DB570494,DQ413176,DQ413177 NP_115808,NP_001123558,NP_001123557,NP_001123556,NP_001123555,NP_001123559,NP_001123560,AAY40931,EAW82357,EAW82358,BAB47437,CAG38375,CAG38376,BAC04414,BAC04427,BAC85284,BAH13400,CAD38885,AAH67214,AAI22568,ABD83329,ABD83330,Q08E71,Q19VH0,Q19VH1,Q4W5G4,Q6H8Q1,Q6ZP41 Hs.233404 DKFZp761F129|FLJ26534|FLJ39684|KIAA1808|MGC141918 OTTHUMP00000217347|abLIM-2|actin binding LIM protein 2|actin-binding LIM protein 2|actin-binding LIM protein family member 2 protein-coding 1354406 ABLIM3 actin binding LIM protein family, member 3 The LIM domain is a double zinc finger structure that promotes protein-protein interactions. LIM domain proteins, such as ABLIM3, play roles in embryonic development, cell lineage determination, and cancer (Krupp et al., 2006 [PubMed 16328021]).[supplied by OMIM] 1580863 17194709,17081983,16381901,16328021,15489336,15489334,15342556,15337165,15221005,12477932,11230166,11076863,10048485,9373149,8125298 22885 NM_014945,AC012613,AC091940,CH471062,AB020650,AB075881,AK098469,AK225769,AK289736,AL833021,BC001665,BC014463,BP285049,DQ413174 NP_055760,EAW61788,EAW61789,EAW61790,EAW61791,EAW61792,BAA74866,BAD38663,BAF82425,CAH56270,AAH01665,ABD83327,O94929,CAL37473,CAL37581,CAL37722,CAL37724,CAL37743,CAL37768,CAL37808,CAL37810,CAL37841,CAL37876,CAL37977,CAL37979,CAL37994,CAL38031,CAL38039,CAL38101,CAL38162,CAL38196,CAL38279,CAL38290,CAL38300,CAL38309,CAL38401,CAL38431,CAL38436,CAL38440,CAL38531,CAL38534,CAL38558,CAL38598,CAL38631,CAL38668,CAL38695,CAL38283 Hs.49688 HMFN1661 OTTHUMP00000223934|OTTHUMP00000223936|OTTHUMP00000223937|abLIM-3|actin-binding LIM protein 3|actin-binding LIM protein family member 3 protein-coding 730884 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq] 1580863,2317512,2317510 19278955,19276450,19169360,19078892,19054377,18940312,18712158,18680548,18651204,18604267,18600088,18521502,18464913,18426679,18387978,18273824,18247104,18215251,18173836,18156754,18078207,18067502,18067076,18063521,18028481,18027815,18003641,17994314,17764507,17642512,17531777,17393014,17311872,17298125,17259183,17209060,17140342,17130965,17119126,17107352,17076855,17036929,17002642,16956829,16871363,16859949,16722361,16686845,16631357,16403294,16239542,16215642,16181218,16176058,16081582,16008680,15987364,15880137,15847653,15819691,15819453,15783300,15754970,15751650,15735796,15648786,15606555,15300625,15166945,15104652,15009807,14979340,14750174,14617382,14569463,14516453,12829588,12786998,12760254,12673421,12587416,12560669,12529355,12519432,12477932,12198488,12151392,11998221,11961233,11939260,11856466,11520811,11436564,11398963,11345596,11061869,10666229,10462501,9800297,9325321,9175793,8928487,8873422,8839869,8641696,8484250,8456556,7779106,7772867,7598760,7488159,6770676,5442829,4831233,4831223,2333095,2121736,2104828,2104827,1520322,1449469,1429528,618875,184030,20139978,20456702,20576794,20197725,16686846,19110300,19470260,19474452,19490215,19648918,19729612,20003128,20017223,20066004,20103627,20147318,20167578,20181960,20231535,20371059,20373852,20459687,20514537,20529992,19913121,20154292,20532885,20628086,20648472,20666915,20677133,20971884 2317512,2317510 28 AJ536134,AJ536135,AJ536136,AJ536137,AJ536138,AJ536139,AJ536148,AJ536150,AJ536152,AJ536153,AJ920329,AJ973608,AL158826,AL732364,AM040939,AM231715,AM423110,AM492698,AY268591,AY336599,AY373436,AY377125,AY442168,AY510089,AY512679,AJ536132,EU366315,FR691751,FR691752,AL772161,GU169167,GU169168,GU169169,GU169170,GU169171,GU169172,GU169173,GU199604,GU199605,GU592505,GU592506,GU592507,NG_006669,AB052641,AB052642,AB052643,AB052644,AB052650,AB052651,AB180254,AB180256,AB180257,AB180258,AB180259,AB180260,AB180261,AB180262,AB180263,AB180264,AB180265,AB180266,AB180267,AB180268,AC000397,AF006673,AF016622,AF016624,AF016625,AF062486,AF062487,AF134418,AF134420,AF134422,AF134424,AF134426,AF134428,AF134430,AF134432,AF134434,AF134440,AF170888,AF170889,NM_020469,AF324018,AF324019,AF324020,AF408431,AF448199,AF448200,AJ276686,AJ276687,AJ276688,AJ276689,AJ426048,AJ426063,AJ426064,AJ536122,AJ536123,AJ536124,AJ536125,AJ536126,AJ536127,AJ536128,AJ536129,AJ536130,AJ536131,AF170892,AF170893,AF182746,AF182747,AF182749,AF324006,AF324007,AF324008,AF324009,AF324010,AF324011,AF324012,AF324013,AF324014,AF324015,AF324016,AF324017,AY590127,AY611640,AY611641,AY720844,AY720850,AY720852,AY805749,AY805750,CH471090,D82835,D82836,D82837,D82838,D82839,D82840,D82841,D82842,D82843,D82844,D82845,DQ092379,DQ092380,DQ092381,DQ100313,DQ124678,DQ124679,DQ321372,DQ321373,DQ323500,DQ323501,AY513233,DQ323502,DQ323503,DQ407740,FJ599810,U15198,U22302,X84746,AF134412,AF134413,AF134414,AF134415,AF134416,AK302203,AV761252,AY579471,AY727862,BC069595,BC069605,BC069814,BC111575,DQ139865,J05175,S44054,U15197,FJ851691,FJ851692 CAD60219,CAD60221,CAD60222,CAD60223,CAD60224,CAD60225,CAD60226,CAD60235,CAD60237,CAD60239,CAD60240,CAI79116,CAJ00555,CAJ13827,CAJ77763,CAM28424,CAM34526,AAP03430,AAP97075,AAR20996,AAR24575,AAS00500,AAR98522,AAS16482,Q56S55,Q5VJ25,Q679L5,Q67BB2,Q6IS73,Q6L635,Q6L636,Q6L637,Q6L638,Q6L639,Q6L640,Q6L641,Q6L643,Q6L644,Q6L645,Q6L647,Q6L648,Q6LCV2,Q6PNN6,Q6R5A7,Q6R5J3,Q6R675,Q70V10,Q70V12,Q70V13,Q70V15,Q70V16,Q70V22,Q70V24,Q70V25,Q70V26,Q70V29,Q70V31,Q70V32,Q70V33,Q70V35,Q70V37,Q70V39,Q70V41,Q7LCZ1,Q7Z535,Q8N3W8,Q8NFW0,Q8WWJ1,Q8WXY5,Q8WXY6,Q8WXY7,Q8WXY8,Q8WXY9,Q8WXZ0,Q8WXZ1,Q8WXZ2,Q8WXZ3,Q8WXZ4,Q8WXZ5,Q8WXZ6,Q8WXZ7,Q99477,Q99478,Q99479,Q99480,Q99481,Q99482,Q99483,Q99486,Q99488,Q9BQ97,Q9C087,Q9C088,Q9C089,Q9C090,Q9NPA6,Q9NY02,Q9UBW4,Q9UIR1,Q9UK42,Q9UMY7,Q9UMY8,Q9UP69,Q9UP70,Q9UQ62,Q9UQ63,Q9UQ64,Q9UQ65,Q9UQ66,Q9UQ67,CBX20982,CBX20983,ADP08988,ADP08989,ADP08990,ADP08991,ADP08992,ADP08993,ADP08994,ADP08995,ADP08996,ADP08997,ADP08998,ADP08999,Q9UMY6,NP_065202,BAB32654,BAB32655,BAB32656,BAB32657,BAB32658,BAB32659,BAD20714,BAD20715,BAD20716,BAD20717,BAD20718,BAD20719,BAD20720,BAD20721,BAD20722,BAD20723,BAD20724,BAD20725,BAD20726,BAD20727,AAB69195,AAB86462,AAB86464,AAB86465,AAC99327,AAC99328,AAD26575,AAD26576,AAD26577,AAD26578,AAD26579,AAD26580,AAD26581,AAD26582,AAD26583,AAD26584,AAD51648,AAL37350,AAL37351,AAL37352,AAN02512,AAQ04662,AAQ04663,CAB81776,CAB81777,CAB81778,CAB81779,CAD22451,CAD19818,CAD19819,CAD60209,CAD60210,CAD60211,CAD60212,CAD60213,CAD60214,CAD60215,CAD60216,CAD60217,CAD60218,AAL37349,AAD51651,AAD51652,AAF07060,AAF13183,AAF13184,AAL37338,AAL37339,AAL37340,AAL37341,AAL37342,AAL37343,AAL37344,AAL37345,AAL37346,AAL37347,AAL37348,AAD51649,AAR97889,AAT01605,AAW31606,AAW31607,AAX58609,AAX58612,AAX58613,AAX39008,AAX39009,EAW88054,BAA11584,BAA11585,BAA11586,BAA11587,BAA11588,BAA11589,BAA11590,BAA11591,BAA11592,BAA11593,BAA11594,AAY98421,AAY98422,AAY98423,AAZ28944,AAZ32763,AAZ32764,ABC59309,ABC59310,ABC41115,ABC41116,ABC41117,ABC41118,ABD66591,ACN23166,AAC13777,AAC50121,CAA59233,AAD26572,AAD26573,AAD26574,BAG63563,AAT90439,AAU93390,AAH69595,AAH69814,AAI11576,AAZ67147,AAA36792,AAB23167,AAD14781,O14759,O15512,P16442,Q102J2,Q15951,Q207T9,Q2LFC5,Q2LFC6,Q2PJQ0,Q2PJQ1,Q2PJQ2,Q2PJQ3,Q2VU69,Q2VU70,Q3ZMG8,Q45FB1,Q45L90,Q45L91,Q4JGX0,Q4JGX1,Q4JGX2,Q4LAQ2,Q4VVG1,Q4VY24,Q538Y8,Q538Y9,Q56S51,Q56S52,Q56S53,ABY67384,ACP27632,ACP27633 Hs.654423 A3GALNT|A3GALT1|GTB|NAGAT ABO glycosyltransferase|B(A) alpha-1,3-galactosyltransferase|fucosylglycoprotein 3-alpha-galactosyltransferase|fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase|glycoprotein-fucosylgalactoside alpha-galactosyltransferase|histo-blood group A transferase|histo-blood group A2 transferase|histo-blood group ABO system transferase|histo-blood group B transferase protein-coding 732341 ABP1 amiloride binding protein 1 (amine oxidase (copper-containing)) This gene encodes a membrane glycoprotein that is expressed in many epithelium-rich and/or hematopoietic tissues and oxidatively deaminates putrescine and histamine. The protein may play a role in controlling the level of histamine and/or putrescine in these tissues. It also binds to and is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. [provided by RefSeq] 1298636,1300048,2315591,2312809,1580863 8144586,1356107,17985251,17700358,17651147,16489678,15928835,15830186,15489334,14755492,14715500,14702039,12755416,12690205,12477932,12419186,11855874,11603849,10660106,8829374,8645981,8595053,8396495,8195119,8182053,7806511,2227949,2217167,1898707,12913069,19670078,19701972,19764817,20062061,20124708,20602615,21040557 1298636,2315591,2312809 26 NM_001091,AACC02000108,AC006343,AY948960,CH471173,X78212,AK092514,AK296638,AK314806,BC014093,BX648159,CR592378,CR596790,CR598361,CR600605,CR601090,CR602032,CR603421,CR608165,CR610042,CR611479,CR615931,CR615995,CR617118,CR617395,CR618888,CR621626,CR622987,CR624494,CR625394,CR626724,M55602,U11862,U11863 NP_001082,EAL24490,AAX81409,EAW54081,EAW54082,EAW54083,EAW54084,EAW54085,EAW54086,EAW54087,CAA55046,BAG52564,BAG59239,AAH14093,AAA58358,AAC50270,AAB60381,P19801,Q9HBM7 Hs.647097 ABP|AOC1|DAO|DAO1|KAO OTTHUMP00000212762|OTTHUMP00000212763|OTTHUMP00000212764|amiloride binding protein 1|amiloride-binding protein-1|amiloride-sensitive amine oxidase|amiloride-sensitive amine oxidase [copper-containing]|diamine oxidase|histaminase|kidney amine oxidase protein-coding 1314808 ABR active BCR-related gene This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis, suggesting that Rho-related GTPases help coordinate motor skills and balance. Alternatively spliced transcript variants that encode different isoforms have been reported for this gene. [provided by RefSeq] 1580863 8262969,17474147,15525470,14702039,12621583,11921339,8889548,8349582,7829075,7479768,2587217,16341674,16712791,11756498,12376548,12477932,12787561,20379614 29 AK307827,BC036807,BC141909,BM827672,CB153196,CF135918,CR624267,U01147,NM_021962,NM_001092,NG_011987,NM_001159746,AC015884,AC016292,CH471108,L19704,L19705,AI763107,AK094544,AK124547,AK126882,AK127851,AK295191,AK299909,AK300336,AK302682 AAC50063,Q12979,Q6ZT60,AAI56484,AAI72517,NP_068781,NP_001083,NP_001153218,EAW90631,EAW90632,EAW90633,EAW90634,EAW90635,AAC37519,AAC37518,BAG54051,BAC86734,BAH12006,BAH13169,BAH13263,BAH13777 Hs.159306 FLJ45954|MDB active breakpoint cluster region-related protein protein-coding 1603582 ABRA actin-binding Rho activating protein 11256614,19255118,17415416,16381901,15798203,15489336,15489334,14702039,12477932,11983702,11230166,11076863 137735 NM_139166,AC023344,CH471060,AF503617,AK092694,AL832152,AL833422,BC105103,BC105105 NP_631905,EAW91907,AAM27268,BAC03948,AAI05104,AAI05106,Q8N0Z2,CAL37941 Hs.374668 STARS actin-binding Rho-activating protein|striated muscle activator of Rho-dependent signaling protein-coding 1321888 ABT1 activator of basal transcription 1 Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq] 1580863 10648625,15635413,15489334,14574404,12477932,11790298,18482256,19299493 29777 NM_013375,AL513548,CH471087,CS300635,AB027258,BC048812,BC066313,CR590058,CR596997,CR603288,CR606133,CR609958,CR613442,CR615011,CR617743,CR622480 NP_037507,CAC40824,EAW55591,EAW55592,EAW55593,CAK32299,BAA86886,AAH48812,AAH66313,Q9ULW3,ABZ92324 Hs.254406 hABT1 TATA-binding protein-binding protein|activator of basal transcription 1|basal transcriptional activator protein-coding 1349137 ABTB1 ankyrin repeat and BTB (POZ) domain containing 1 This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18029348,18459963,18429817,15498874,15489334,15231748,14702039,12477932,11494141,10891360,8889548 80325 NM_172027,AC023593,CH471052,AB053324,AB053325,AB053326,AF297986,AF447886,AK090422,AK090509,AK098738,AK130594,AK315148,BC011858,AI337369,BF664138,BM671027,NR_033428,NR_033429 NP_742024,EAW79333,EAW79334,EAW79335,EAW79336,BAB55648,BAB55649,BAB55650,AAK57478,AAQ04661,BAC03403,BAC85392,BAG37596,AAH11858,Q8NF57,Q969K4 Hs.107812 BPOZ|BTB3|Btb3|EF1ABP|MGC20585|PP2259 OTTHUMP00000216044|ankyrin repeat and BTB/POZ domain-containing protein 1|elongation factor 1A binding protein|elongation factor 1A-binding protein protein-coding 733617 ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 1580863 18429817,15489334,14702039,12477932,18459963,20379614 25841 NM_145804,AC090469,AL035079,AL133294,AL139174,CH471064,AK056863,AK091560,AK095632,AK291744,AL050374,BC093968,BX640841 NP_665803,EAW68172,EAW68173,BAG51818,BAC03697,BAC04595,BAF84433,AAH93968,CAE45913,Q8N961 Hs.23361 DKFZp586C1619 ankyrin repeat and BTB/POZ domain-containing protein 2 protein-coding 69012 ACAA1 acetyl-Coenzyme A acyltransferase 1 This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 2313044,1300048,1580863 18281296,10231028,9110174,8619474,7750978,3194209,2882519,2726492,2630187,1679347,18029348,16385653,15489334,14621081,12477932,11418601,10960480,16756494,19423540,20406964,20438785,19913121,20628086,20877624,21048031 2313044 30 NM_001130410,NM_001607,AP006309,CH471055,X65140,X65148,AF035295,AK025138,AK127051,AK293716,AK301056,AK303251,AK316551,BC000635,BC011977,BC014474,NR_024024,BC025780,BC039837,CR591578,CR594169,CR595862,CR598152,CR600577,CR603602,CR605477,CR607199,CR607231,CR608061,CR609571,CR610044,CR610125,CR612027,CR612253,CR612814,CR613357,CR618847,CR625217,CR625245,CR626439,CR626521,DC312566,DC379687,X12966,X14813,X51460,NG_023225 NP_001123882,NP_001598,EAW64513,EAW64514,EAW64515,EAW64516,EAW64517,EAW64518,CAA46270,CAA46271,AAB88181,BAG57147,BAG62666,BAG64334,BAG65629,AAH00635,AAH11977,AAH14474,CAA31412,CAA32918,CAA35825,O43203,P09110,Q8NCW8,Q96CA6,ABM82224,ABM84272,ABM85408 Hs.643487 ACAA|PTHIO|THIO 3-ketoacyl-CoA thiolase, peroxisomal|OTTHUMP00000209180|OTTHUMP00000209821|OTTHUMP00000209822|acetyl-Coenzyme A acyltransferase 1|beta-ketothiolase|peroxisomal 3-oxoacyl-CoA thiolase|peroxisomal 3-oxoacyl-Coenzyme A thiolase protein-coding 733990 ACAA2 acetyl-Coenzyme A acyltransferase 2 The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq] 1580863,2317624 20571754,20679960,8241273,18371312,18193044,15489334,15242332,14702039,12477932,10856712,9373149,8125298,20877624,20972250 2317624 10449 NM_006111,AC090227,CH471096,AK054673,AK093311,AK225457,AK314462,BC001918,CR599438,CR599578,CR602624,CR603122,CR607062,CR610172,CR622129,CR626652,D16294 NP_006102,EAW62950,EAW62951,EAW62952,EAW62953,EAW62954,EAW62955,EAW62956,BAG51410,BAG37070,AAH01918,BAA03800,P42765,ABM84302,ABM87696 Hs.200136 DSAEC|FLJ35992|FLJ95265 3-ketoacyl-CoA thiolase, mitochondrial|T1|acetyl-Coenzyme A acyltransferase 2|beta ketothiolase|beta-ketothiolase|mitochondrial 3-oxoacyl-CoA thiolase|mitochondrial 3-oxoacyl-Coenzyme A thiolase protein-coding 736015 ACACA acetyl-Coenzyme A carboxylase alpha Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863,1300332,1625727,1300238,1300048,2317316,2317309 8944226,20139635,20457939,7905825,16326698,19061860,18996102,18660489,18614968,18614941,18487259,18455495,18452305,18056116,18031993,17631500,17521700,17372234,17081983,16713569,16698035,15607423,15333468,15302935,14643797,12810950,12477932,12360400,11052978,10737800,10677481,7915280,7907095,20562859,7732023,2906852,2900140,2900138,16169070,16794074,19343720,19543203,19710915,19723093,19846279,20379614,19913121,20602615,20628086,20877624,20965718 1300332,1625727,1300238,2317316,2317309 31 NG_023295,NM_198834,NM_198839,NM_198836,NM_198837,NM_198838,AC003103,AC016482,AC068400,AY315616,AY315617,AY315618,CH471199,AB209325,AB371587,AJ534888,AJ534889,AJ564444,AK129523,AK295586,AK295735,AK295805,AK296368,AK301579,AK308905,AK309084,AK309424,AK311329,AY237919,AY315619,AY315620,AY315621,AY315622,AY315623,AY315624,AY315625,AY315626,AY315627,BC031485,BC041598,BC137287,BF154865,CF454424,CR598320,CR607505,CR614552,CR626022,U19822 NP_942131,NP_942136,NP_942133,NP_942134,NP_942135,AAP94113,EAW57576,EAW57577,EAW57578,EAW57579,EAW57580,EAW57581,EAW57582,EAW57583,BAD92562,BAG48316,CAD59556,CAD59557,CAD92089,BAG58478,BAG58574,BAG58623,BAG59043,BAG63071,AAP69841,AAP94114,AAP94115,AAP94116,AAP94117,AAP94118,AAP94119,AAP94120,AAP94121,AAP94122,AAH31485,AAI37288,AAC50139,Q13085,Q59FY4,Q7Z562,Q7Z565,Q7Z5W8 Hs.160556 ACAC|ACC|ACC1|ACCA ACC-alpha|acetyl-CoA carboxylase 1|acetyl-CoA carboxylase-alpha|acetyl-Coenzyme A carboxylase alpha protein-coding 731908 ACACB acetyl-Coenzyme A carboxylase beta Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq] 1304207,1300048,1580863,1300333,1625727,1300239 19190759,19034549,18996102,18455495,18031993,17521700,17223360,16854592,15590647,14627750,12477932,12413941,12086953,10677481,9284908,9099716,8876158,8670171,20139635,20514549,16054041,18029348,15060529,19390150,14532170,14613924,16794074,19618481,19846279,19900410,20168990,20379614,20468064,20519229,9148944,11257506,20599696,20602615,20799892,20855566,20877624,20965718 1304207,1300333,1625727,1300239 32 NM_001093,AC007637,CH471054,AB209110,AJ575431,AJ575592,AK302469,AK302502,AK307466,AY382667,BC009753,BC028417,CB269093,CB269579,CR626281,DB567934,DQ493870,R99037,U34591,U89344 NP_001084,EAW97852,EAW97853,EAW97854,EAW97855,BAD92347,CAE01470,CAE01471,BAG63759,BAG63782,AAR37018,AAH28417,ABF48723,AAC50571,AAB58382,O00763,Q4G170,Q59GJ9,AAI72264,AAI72569 Hs.234898 ACC2|ACCB|HACC275 ACC-beta|acetyl-CoA carboxylase 2|acetyl-Coenzyme A carboxylase beta 1643258,1643266,1643270,1643277,2289628,2289630,2289632 BW205_H,BW201_H,BW198_H,BW203_H,BW500_H,BW501_H,BW502_H protein-coding 1346668 ACAD10 acyl-Coenzyme A dehydrogenase family, member 10 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 18950845,16344560,15560374,15197164,14702039,12477932,20877624,20379614,20390405 80724 BC054886,BC126358,CA419108,CF272632,CR591627,DA146693,NM_001136538,AC002996,CH471054,AK092356,AK097425,AK310923,AL832043,AY323912,BC003698,BC015056,NM_025247 AAI26359,Q6JQN1,AAH15056,NP_079523,NP_001130010,EAW97961,EAW97962,EAW97963,EAW97964,EAW97965,EAW97966,EAW97967,EAW97968,EAW97969,EAW97970,EAW97971,BAC03869,BAC05046,AAQ88260 Hs.331141 MGC5601 ACAD-10|acyl-CoA dehydrogenase family member 10|acyl-Coenzyme A dehydrogenase family, member 10 protein-coding 1604580 ACAD11 acyl-Coenzyme A dehydrogenase family, member 11 14561759,16344560,15489334,14702039,12477932,12056414,19423540,20237496,20406964,20438785,20877624 84129 NM_032169,AC020632,CH471052,AI091999,AJ608287,AK022654,AK131265,AK308380,AL832873,AL833721,BC019607,BC125204,BC125205,CR596046,CR611845,DA804241,AK298627,HH961824 NP_115545,EAW79193,EAW79194,EAW79195,CAE55233,BAB14158,BAD18443,CAH56354,CAH56228,AAH19607,AAI25205,AAI25206,Q08AE9,Q709F0,BAG60803,CBX51385 Hs.441378 ACAD-11|FLJ12592|MGC150619 ACAD-11|acyl-CoA dehydrogenase family member 11|acyl-Coenzyme A dehydrogenase family, member 11|putative acyl-CoA dehydrogenase protein-coding 1344764 ACAD8 acyl-Coenzyme A dehydrogenase family, member 8 Isobutyryl-CoA dehydrogenase (EC 1.3.99), encoded by the ACAD8 gene, catalyzes the third step of the degradation of the branched chain amino acid valine (Nguyen et al., 2002 [PubMed 12359132]).[supplied by OMIM] 1580863 10524212,15489334,14752098,14702039,12477932,12359132,11013134,10235267,17387528,16806233,20877624 27034 AK299795,NM_014384,AF260689,AP000859,CH471065,AB209538,AF126245,AK000359,AK026243,AK074640,AK125373,AK299492,AK301921,AK303569,AK309051,AK309838,BC001964,BI549961,CR608679,NG_015842 NP_055199,AAF97922,EAW67833,EAW67834,EAW67835,BAD92775,AAF12736,BAA91109,BAC11107,BAC86149,BAH13050,BAH13130,BAH13587,BAH13987,AAH01964,Q59FC2,Q6ZUS0,Q6ZWP6,Q9UKU7,ABM82019,ABM85201 Hs.14791 ACAD-8|ARC42|FLJ22590 activator-recruited cofactor 42 kDa component|acyl-Coenzyme A dehydrogenase family, member 8|isobutyryl-CoA dehydrogenase, mitochondrial protein-coding 1348095 ACAD9 acyl-Coenzyme A dehydrogenase family, member 9 Mitochondrial fatty acid beta-oxidation is one of the main energy-producing metabolic pathways in eukaryotes. Acyl-CoA dehydrogenases (ACADs; EC 1.3.99.13) are mitochondrial enzymes that catalyze the initial rate-limiting step in the beta-oxidation of fatty acyl-CoA. ACAD9 belongs to a group of ACADs that act on fatty acids containing 14 to 20 carbons (Zhang et al., 2002 [PubMed 12359260]).[supplied by OMIM] 1580863,2317589 17672918,20929961,18385088,17564966,16750164,16344560,16020546,15489334,14702039,12971426,12477932,12359260,20877624,21057504,11256614,19615732,20816094 2317589 28976 NM_014049,AC112484,CH471052,AB209427,AF078854,AF327351,AK022568,AK024012,AK027186,AK130311,AK294597,AK297952,AK310644,BC001817,BC007970,BC013354,BC041572,CR613592,CR615785,DA630022,NG_017064,NR_033426 NP_054768,EAW79293,EAW79294,EAW79295,EAW79296,BAD92664,AAD44486,AAL56011,BAB14104,BAB14775,BAG57785,BAG60267,AAH01817,AAH07970,AAH13354,Q59FN3,Q9BUX5,Q9H845,Q9H9W4,Q9UNZ4,ABM84442,ABM87494 Hs.567482 ACAD-9|FLJ23533|MGC14452|NPD002 OTTHUMP00000217099|acyl-CoA dehydrogenase family member 9, mitochondrial|acyl-Coenzyme A dehydrogenase family, member 9|very-long-chain acyl-CoA dehydrogenase VLCAD protein-coding 733759 ACADL acyl-Coenzyme A dehydrogenase, long chain The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq] 1304195,1580863,704409,1300048,2317678,2317589 1945557,18660489,12477932,10832093,9714723,9003458,8739959,4022672,2000272,1774065,1607358,1559716,1438359,18029348,20037589,19913121,20628086,20363655,20877624 1304195,704409,2317678,2317589 33 NM_001608,NG_008002,AC006994,CH471063,AK296161,AK313498,BC039063,BC064549,CR592258,DC350098,M74096 NP_001599,AAY14881,EAW70481,BAG58900,BAG36280,AAH39063,AAH64549,AAA51565,P28330,ABM81711,ABM84867 Hs.471277 ACAD4|FLJ94052|LCAD acetyl-coenzyme a dehydrogenase, long-chain|acyl-Coenzyme A dehydrogenase, long chain|long-chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 735259 ACADM acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300334,1580863,704409,1300048,2317678,2317589 2393404,1731887,19224950,19064330,18927092,18660489,18241067,18188679,17539907,17186412,16917729,16617240,16291504,16236267,16128823,15902558,15896661,15832312,15489334,15171999,14970748,14692513,12914524,12562916,12522104,12477932,11517203,11486912,11409868,11349232,11263545,10767181,9882619,9487154,9484241,9158144,8823176,8198141,7929823,7608198,7603790,6857268,3786030,3597357,3462713,3035565,2394825,2251268,1902818,1729890,1684086,1679031,1671131,1363805,11256614,16972171,18029348,19551636,19615732,19649258,1970566,20037589,19913121,20434380,20567907,20628086,20877624,21083904 1300334,704409,2317678,2317589 34 NM_000016,NG_007045,AL357314,CH471059,M60505,M91432,U33947,AF251043,AK296045,AK301005,AK301039,AK301717,AK309843,AK311022,AK311185,AK312629,AK315946,BC005377,BI789086,BX647734,CR596485,CR620592,DB453314,DB537134,M16827,NM_001127328 NP_001120800,NP_000007,CAI22389,CAI22390,EAX06399,EAX06400,EAX06401,AAB59625,AAA59567,AAF63626,BAG58809,BAG62623,BAG62652,BAG63188,BAG35514,BAH14317,AAH05377,CAI45986,AAA51566,P11310,Q5HYG7,Q5T4U5,ABM83267,ABM86636 Hs.445040 ACAD1|FLJ18227|FLJ93013|FLJ99884|MCAD|MCADH acetyl-coenzyme a dehydrogenase, medium chain|acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain|medium-chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 732202 ACADS acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain This gene encodes a a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with Short Chain Acyl-CoA Dehydrogenase Deficiency. [provided by RefSeq] 1580863,1300335,1300239,1300048,2317678,2317589 20843780,20371198,8276399,16729965,18977676,18539996,18523805,18184946,18175080,18054510,18045290,16376132,15902559,15489334,12706374,12477932,12220177,11134486,9499414,9383286,8889548,8503850,2565344,1692038,1286669,19470168,20037589,20180986,20376488,19913121,20554694,20628086,20877624 1300335,1300239,2317678,2317589 35 HQ205946,HQ205947,HQ205948,HQ205949,HQ205950,HQ205951,HQ205952,HQ205961,HQ205962,HQ205953,HQ205954,HQ205955,HQ205956,HQ205957,HQ205959,HQ205960,HQ205963,HQ205964,HQ205965,HQ205966,HQ205967,HQ205968,HQ205970,HQ205971,HQ205972,HQ205973,HQ205974,HQ205975,HQ205976,HQ205977,HQ205983,HQ205984,HQ205978,HQ205979,HQ205980,HQ205981,NG_007991,AC069234,CH471054,U83992,Z80345,Z80347,AK300645,BC025963,BU682624,CR596637,CR600438,CR604877,CR606773,CR607224,CR608104,NM_000017,CR615642,DB487184,CR613358,CR613518,M26393,AB527081 ADP91818,ADP91819,ADP91820,ADP91821,ADP91822,ADP91823,ADP91824,ADP91825,ADP91827,ADP91828,ADP91829,ADP91830,ADP91831,ADP91832,ADP91833,ADP91834,ADP91835,ADP91836,ADP91838,ADP91839,ADP91840,ADP91841,ADP91842,ADP91843,ADP91844,ADP91845,ADP91846,ADP91847,ADP91848,ADP91849,ADP91851,ADP91852,ADP91814,ADP91815,ADP91816,ADP91817,NP_000008,EAW98218,AAD00552,CAB02492,BAG62333,AAH25963,AAA60307,P16219,ABM83110,ABM86304,BAJ05798 Hs.507076 ACAD3|SCAD acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain|butyryl-CoA dehydrogenase|mitochondrial short-chain specific acyl-CoA dehydrogenase|short chain acyl-coenzyme a dehydrogenase|short-chain acyl-CoA dehydrogenase|short-chain specific acyl-CoA dehydrogenase, mitochondrial|unsaturated acyl-CoA reductase protein-coding 735869 ACADSB acyl-Coenzyme A dehydrogenase, short/branched chain Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. 1300336,704409,1580863,1300048 20547083,17207965,7698750,17143180,16344560,16331964,16331963,16317551,15489334,12855692,12477932,11013134,10832746,7759115,16385451,19615732,20418485,20877624 1300336,704409 36 NG_008003,AC012391,AC073585,AF260678,AL731666,CH471066,AK314241,AL831821,BC013756,BC020931,BC032395,BC045723,BE875638,CR612602,DA964130,U12778,NM_001609,AK298638 NP_001600,AAF97921,CAI10847,EAW49291,BAG36909,CAD38535,AAH13756,AAA74424,P45954,Q5SQN6,ADQ31765,BAG60813 Hs.81934 2-MEBCAD|ACAD7|SBCAD 2-methyl branched chain acyl-CoA dehydrogenase|2-methylbutyryl-coenzyme A dehydrogenase|acyl-Coenzyme A dehydrogenase, short/branched chain|short/branched chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 735407 ACADVL acyl-Coenzyme A dehydrogenase, very long chain The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 704409,1580863,1300337,1300048,1300240,2317683,2317589 8466512,7479827,7668252,18063578,18660489,18156936,17999356,17514507,17457695,17374501,16464760,15489334,14702039,14611808,12609736,12477932,10790204,10077518,11158518,9973285,9709714,9599005,9546340,9373149,8921384,8845838,8554625,8554073,8125298,7769092,19327992,19889959,20060901,20099975 704409,1300337,1300240,2317683,2317589 37 NM_000018,NM_001033859,NG_007975,AC120057,AF244932,X86556,AJ012053,CH471108,D78298,L46590,AA643658,AK056083,AK056956,AK058109,AK097243,AK222518,AK293537,AK293549,AK302653,AL536186,BC000399,BC012912,BC020218,BI822737,CR594516,CR615522,CR625925,D43682 NP_000009,NP_001029031,CAA60253,P49748,Q53HR2,EAW90246,EAW90247,EAW90248,EAW90249,EAW90250,BAA29057,AAA79002,BAG51618,BAG51833,BAD96238,BAG57019,BAG57027,BAG63892,AAH00399,AAH12912,AAH20218,BAA07781 Hs.437178 ACAD6|LCACD|VLCAD acyl-Coenzyme A dehydrogenase, very long chain|very long-chain specific acyl-CoA dehydrogenase, mitochondrial protein-coding 68507 ACAN aggrecan This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq] 2315807,2315836,2315837,2315073,1300269,1580863 1326552,1569188,19333097,19298220,19294492,19266077,19180518,19110214,19034380,19004047,18391952,18055126,18040638,17632389,17588949,17568421,17261541,16741449,16650460,16574327,16537531,16425147,16402214,16344560,16335952,16080123,16001263,15590670,14724283,14722076,14627072,14558103,12888576,12477932,12054629,11932252,11898616,11854269,11038354,10922468,10400671,9756610,9688535,9654129,9013976,8921002,8611178,8314595,8216228,7998967,7827755,7626017,7574678,7524681,7240256,2789216,12205105,1985970,15505028,10751421,14701864,16188468,19545413,19657146,19669783,19790048,19893584,20137779,20367118,20379614,20496110,20505571,20367178,20618160,19913121,20546612,20628086,18829133,20936487,21039430 2315807,2315836,2315837,2315073,1300269 176 NM_013227,NM_001135,NG_012794,AC103982,CH471101,CS025622,L29488,S74659,AK290723,BC036445,BC150624,BQ182050,BQ446640,DA596050,J05062,M55172,U13192,X17406,X80278 NP_037359,NP_001126,EAX02017,EAX02018,EAX02019,EAX02020,EAX02021,CAI61688,AAB48068,AAC60643,BAF83412,AAH36445,AAI50625,AAA35726,AAA62824,CAA35463,P16112,Q6LE94,Q6PID9 Hs.2159,Hs.616395 AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK aggrecan 1|aggrecan core protein|cartilage-specific proteoglycan core protein|chondroitin sulfate proteoglycan core protein 1|large aggregating proteoglycan protein-coding 1313339 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 1580863 20379614,17474147,18003747,17664335,17010122,17005562,16777052,16189514,15525538,15489334,12477932,11062263,11050434,7584044,7566098,20800603 9744 NM_014716,AC026954,CH471108,AA356620,BC018543,BT009788,CR599042,D30758 NP_055531,EAW90209,EAW90210,AAH18543,AAP88790,BAA06418,Q15027,ABM82645 Hs.337242 CENTB1|KIAA0050 Arf GAP with coiled coil, ANK repeat and PH domains 1|arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1|centaurin, beta 1|centaurin-beta-1|cnt-b1 protein-coding 1347120 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 1580863 18003747,16344560,15592455,15489334,12477932,11062263,11050434,11001876,9373149,8125298,7584044 23527 CA413842,NM_012287,AC090018,AC091633,AC126170,CH471052,AJ238248,AK222635,AK290369,BC014843,BC017120,BC031005,BC047579,BC060767,D26069,DA774230,DB087306 NP_036419,EAW78026,EAW78027,CAB41450,BAF83058,AAH31005,AAH60767,BAA05064,Q15057 Hs.593373 CENTB2|CNT-B2|KIAA0041 Arf GAP with coiled coil, ANK repeat and PH domains 2|arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2|centaurin, beta 2|centaurin-beta-2 protein-coding 1321777 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 1580863 15489334,14702039,12477932,11214970,16169070,19548526,19913121,20628086 116983 NM_030649,AL139287,AL162741,CH471183,AB051503,AF411981,AK093954,AK098490,BC004874,BC021851,BC029929,BC047001,BC051194,CR624645 NP_085152,CAI23170,CAI23171,CAI23173,CAI23243,CAI23244,CAI23245,CAI23264,EAW56246,EAW56247,EAW56248,EAW56249,EAW56250,BAB21807,AAL04165,BAC04257,AAH04874,AAH21851,AAH29929,AAH51194,Q8N2W2,Q8N9S2,Q8WTZ1,Q96P50 Hs.535257 CENTB5|KIAA1716 arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3|centaurin, beta 5|centaurin-beta-5|cnt-b5 protein-coding 737017 ACAT1 acetyl-Coenzyme A acetyltransferase 1 This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq] 704409,1300338,1300048,1580863,1300240,2307223,2326222,1358268,2326093,1581042,2326081 1979337,3709573,17353931,1715688,19625677,19269342,19217763,19112833,18996102,18971559,18779653,18562306,18542101,18511318,18393248,18029348,18000807,17691824,17371050,17236799,16935016,16341674,15242332,15158756,15128923,12754704,12477932,9744475,9700610,9607396,9380443,8103405,7907600,7749408,7728148,7173255,4690360,1684944,1627655,1351831,1346617,20460577,20046049,20156697,20167577,20602615,19851860,20877624 704409,1300338,1300240,2307223,2326222,1358268,2326093,1581042,2326081 38 NM_000019,NG_009888,AP002433,CH471065,D10511,AF086561,AK312574,AW081574,BC010942,BC063853,BM789408,D90228 NP_000010,EAW67103,EAW67104,EAW67105,BAA01387,BAG35468,AAH10942,BAA14278,P24752,Q96FG8 Hs.232375 ACAT|MAT|T2|THIL acetoacetyl Coenzyme A thiolase|acetoacetyl-CoA thiolase|acetyl-CoA acetyltransferase, mitochondrial|acetyl-Coenzyme A acetyltransferase 1|mitochondrial acetoacetyl-CoA thiolase protein-coding 1354229 ACAT2 acetyl-Coenzyme A acetyltransferase 2 The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. [provided by RefSeq] 1298605,1601111,1601112,1581921,1556516,2316857,2326093 17353931,7911016,19282863,19071091,18996102,18660489,18269457,18000807,17950700,17919884,16195894,15733928,15489334,15342556,15158756,14702039,14574404,14557872,12621162,12477932,9373149,8812443,8125298,6150136,2475872,12518221,16331323,19467657,20167577,17207965,18029348,20877624,19913121,20602615,20628086 1298605,1601111,1601112,1581921,1556516,2316857,2326093 39 NG_023389,AL135914,CH471051,AB208993,AF356877,AK055001,AK225089,AK225244,AK291080,AK294273,BC000408,BM997310,BP210609,CR590182,CR592880,CR602774,CR603383,CR605843,CR616356,CR617627,S70154,NM_005891 NP_005882,CAI21850,EAW47619,EAW47620,BAD92230,AAM00223,BAF83769,BAH11719,AAH00408,AAB30856,Q59GW6,Q9BWD1,ADQ32668 Hs.571037 acetoacetyl Coenzyme A thiolase|acetyl-CoA acetyltransferase, cytosolic|acetyl-CoA transferase-like protein|acetyl-Coenzyme A acetyltransferase 2|acetyl-coenzyme a acetyltransferase 2 (acetoacetyl coenzyme a thiolase)|cytosolic acetoacetyl-CoA thiolase 2289445,2314977,2314981,2314987,2314988,2314994,2314995,2314996 BW415_H,BW515_H,SLIPL24_H,SLEP23_H,INSUL38_H,INSUL40_H,GLUCO127_H,INSUL31_H protein-coding 1348505 ACBD3 acyl-Coenzyme A binding domain containing 3 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq] 1580863 17711851,18636124,16870622,16710414,15489334,15231748,14702039,12692076,12665801,12477932,11731621,11590181,12711385,18029348 64746 BC039575,BC045533,BC060792,CR590509,NM_022735,AL592045,CH471098,AB043587,AF020762,AK025520,AK057118,AK314468,AY150218,BC034563 AAH34563,AAH45533,AAH60792,O43466,Q9H3P7,NP_073572,CAH71922,EAW69775,EAW69776,BAB20592,AAB97675,BAB15159,BAG37076,AAN60219 Hs.520207 GCP60|GOCAP1|GOLPH1|PAP7 Golgi resident protein GCP60|PBR associated protein|PBR- and PKA-associated protein 7|PKA (RIalpha)-associated protein|acyl-CoA-binding domain-containing protein 3|acyl-Coenzyme A binding domain containing 3|golgi complex associated protein 1, 60kDa|golgi complex-associated protein 1|golgi phosphoprotein 1|peripheral benzodiazepine receptor-associated protein PAP7|peripherial benzodiazepine receptor associated protein protein-coding 1318153 ACBD4 acyl-Coenzyme A binding domain containing 4 This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16344560,15489334,15221005,14702039,12477932,20881960,19430483,17207965,21045733 79777 BC041143,DA039654,DB128538,DC393065,DC421936,NM_024722,NM_001135704,NM_001135705,NM_001135706,NM_001135707,AC142472,CH471178,AB073387,AK023384,AK075104,AK296167,BC022000,BC029164,AK316359 AAH29164,AAH41143,Q8NC06,NP_078998,NP_001129176,NP_001129177,NP_001129178,NP_001129179,EAW51548,EAW51549,EAW51550,EAW51551,EAW51552,BAD38638,BAB14553,BAC11403,BAG58905,BAH14730,ADQ33037 Hs.110298 FLJ13322|FLJ90623|HMFT0700 acyl-CoA-binding domain-containing protein 4|acyl-Coenzyme A binding domain containing 4 protein-coding 1319743 ACBD5 acyl-Coenzyme A binding domain containing 5 1580863 16385451,15342556,14702039,12477932,12056414,17207965 91452 BC011364,BC025309,BC030555,BP200763,CA776355,DC333545,NR_024150,NM_001042473,NM_145698,AL160291,CH471072,AB082527,AF505653,AK057469,AK294510,AK295031,AK304842,AL133064 AAH30555,Q5T8D3,Q5T8E0,Q8NCM9,ADQ32840,NP_001035938,NP_663736,CAI16911,CAI16912,CAI16913,CAI16914,CAI16915,CAI16916,EAW86059,EAW86060,EAW86061,EAW86062,EAW86063,BAC02705,AAP30852,BAG51918,BAH11793,BAH11953,BAH14266,CAB61388 Hs.530597 DKFZp434A2417|KIAA1996 OTTHUMP00000019364|OTTHUMP00000019365|acyl-CoA-binding domain-containing protein 5|acyl-Coenzyme A binding domain containing 5|endozepine-related protein|membrane-associated diazepam binding inhibitor protein-coding 1312817 ACBD6 acyl-Coenzyme A binding domain containing 6 737633,1580863 18268358,16710414,15489334,12477932,8889549,20098747,20379614,18029348 737633 84320 AL139141,AL358354,AL445469,CH471067,AA085012,AK314112,AY606133,BC006505,CR596110,CR596874,CR597133,CR602338,CR616957,NM_032360,CR617242,CR626583,AL537685,AL561590,BU170874 NP_115736,CAI19365,CAI15093,CAH71747,EAW91082,EAW91083,EAW91084,BAG36805,AAH06505,Q9BR61 Hs.200051 MGC2404 acyl-CoA-binding domain-containing protein 6|acyl-Coenzyme A binding domain containing 6 protein-coding 1350250 ACBD7 acyl-Coenzyme A binding domain containing 7 15489334,15164054,14702039,12477932 414149 NM_001039844,AL590365,CH471072,AK095538,AK295169,BC029526,BX114172 NP_001034933,CAH73964,EAW86243,BAG53080,BAH11998,AAH29526,Q8N6N7 Hs.723069,Hs.644598 FLJ38219|FLJ52263|MGC33893|bA455B2.2 acyl-CoA-binding domain-containing protein 7|acyl-Coenzyme A binding domain containing 7 protein-coding 737359 ACCN1 amiloride-sensitive cation channel 1, neuronal This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and ACCN3 (variant 1) has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq] 1298644,1300241,1300338,1580863 8626462,11802773,19091960,17553932,17548344,17534430,17376794,16704974,15504740,15489334,15471860,12477932,11739374,10842183,9360943,9037075,8921408,8631835,20306292,20201926,20379614,20677014 1298644,1300241,1300338 40 NM_001094,NM_183377,AC003687,AC004147,AC008133,AC011824,AC015751,AC024610,AC024614,AC025898,AC027233,AC078907,AC123769,CH471147,AK127748,AK313043,AL834182,BC075042,BC075043,U50352,U53212,U57352 NP_001085,NP_899233,EAW80216,BAG54565,BAG35875,CAD38879,AAH75042,AAH75043,AAC50432,AAC50498,AAB49182,Q16515,ABZ92042 Hs.368417 ACCN|ASIC2|ASIC2a|BNC1|BNaC1|MDEG|hBNaC1 acid-sensing ion channel 2|amiloride-sensitive brain sodium channel|amiloride-sensitive cation channel 1|amiloride-sensitive cation channel 1, neuronal|amiloride-sensitive cation channel neuronal 1|brain sodium channel 1|degenerin|mammalian degenerin homolog|neuronal amiloride-sensitive cation channel 1 protein-coding 731360 ACCN2 amiloride-sensitive cation channel 2, neuronal This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is expressed in most if not all brain neurons, and it may be an ion channel subunit; however, its function as an ion channel remains unknown. Alternative splicing of this gene generates 2 transcript products. [provided by RefSeq] 1298544,1300242,1300339,1580863 11802773,9062189,9037075,19185346,18662336,18514062,18349698,17984098,17548344,17443677,17392378,17324378,15952105,15738111,15576453,15574747,15489334,15471860,15247234,14988500,12578970,12477932,12393854,12244121,11988176,11748227,11739374,11512022,11448963,10798398,10362604,9360943,8685718,20306292,20371317,19561078,19654327,20048170,20215117,20216553,20299463,20601429,21036899 1298544,1300242,1300339 41 NM_020039,NM_001095,AC025154,CH471111,AK290010,AK293960,AK311047,BC013891,BC028722,BC133707,EU078959,U78180,U78181,HM991481 NP_064423,NP_001086,EAW58116,EAW58117,EAW58118,EAW58119,BAF82699,BAG57332,AAH13891,AAI33708,ABU48925,AAB48980,AAB48981,P78348,ADP44689 Hs.274361 ASIC|ASIC1|ASIC1A|BNaC2|hBNaC2 ACCN2 variant 3|Cation channel, amiloride-sensitive, neuronal, 2|acid-sensing ion channel 1|acid-sensing ion channel 1a protein|amiloride-sensitive cation channel 2, neuronal|brain sodium channel 2 protein-coding 1353665 ACCN3 amiloride-sensitive cation channel 3 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and ACCN1 has been observed as proton-gated channels sensitive to gadolinium. Alternative splicing of this gene generates three transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 9744806,9571199,18854755,17012229,15574747,15471860,15317815,12690205,12578970,12477932,12060708,11872753,11842212,11587714,10842183,9886053,20693874,20416288,19885742,21092862 9311 NM_020321,NM_004769,NM_020322,A82593,A82597,A82786,AACC02000108,AC010973,CH471173,AB010575,AB209421,AF057711,AF095897,AF195024,AF195025,AI580095,AK313926,BC030282 NP_064717,NP_004760,NP_064718,CAB69243,CAB69244,CAB69252,EAL24495,EAL24496,EAL24497,EAW54052,EAW54053,EAW54054,EAW54055,BAA25897,BAD92658,AAC62935,AAC64188,AAF19817,AAF19818,BAG36647,Q9UHC3,AAI56797 Hs.647113 ASIC3|DRASIC|SLNAC1|TNaC1 OTTHUMP00000213254|acid-sensing ion channel 3|amiloride-sensitive cation channel 3|amiloride-sensitive cation channel 3, testis|hASIC3|hTNaC1|modulatory subunit of ASIC2a|neuronal amiloride-sensitive cation channel 3|proton-gated cation channel subunit|testis sodium channel 1 protein-coding 1604616 ACCN4 amiloride-sensitive cation channel 4, pituitary This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. Alternative splicing at this locus results in two transcript variants encoding different isoforms. [provided by RefSeq] 15815621,10852210,18662336,17207965,15489334,12477932,11571555,9847074 55515 NM_018674,NM_182847,AC009955,AC053503,AC139723,AJ271643,AJ408881,CH471063,AK308804,AK309373,BC010439,BC031812,BC073912,EL736952 NP_061144,NP_878267,AAY15054,CAB93980,CAC51338,EAW70760,EAW70761,EAW70762,EAW70763,AAH10439,AAH31812,Q96FT7,ABM83030 Hs.87469 ASIC4|BNAC4|MGC17248|MGC24860 acid-sensing ion channel 4|amiloride-sensitive cation channel 4|brain sodium channel 4 protein-coding 736018 ACCN5 amiloride-sensitive cation channel 5, intestinal This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq] 1580863 10767424 51802 NM_017419,AC093830,AC125334,CH471056,AJ252011 NP_059115,EAX04887,CAB85607,Q9NY37,AAI40357,AAI46498 Hs.381349 HINAC|INAC amiloride-sensitive cation channel 5|amiloride-sensitive sodium channel|human intestine Na(+) channel protein-coding 1606762 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11470512,16344560,16189514,14702039,12477932,20453000 84680 NM_032592,NM_001127219,AC134775,CH471064,AK057649,AK307380,AL833533,AY026508,BC020197,CR601174,CR618044,DA196370,DA406116,DC390076,AK302515,AK304074 NP_115981,NP_001120691,EAW68072,EAW68073,BAB71541,AAK11482,AAH20197,Q96QU6,BAG63791,BAG64981 Hs.126706 ACS|PHACS 1-aminocyclopropane-1-carboxylate synthase-like protein 1|ACC synthase-like protein 1 protein-coding 2302255 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 12477932 390110 NM_001031854,AC134775,CH471064,AB231732,AB231733,AB231734,BC144554,DW009984 NP_001027025,EAW68074,BAE46887,BAE17132,Q3C1W0,Q4AC99 Hs.558851 1-aminocyclopropane-1-carboxylate synthase-like protein 2|ACC synthase-like protein 2 protein-coding 1351362 ACD adrenocortical dysplasia homolog (mouse) This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq] 1580863 17237767,15181449,15380063,17237768,16880378,16166375,19424630,18185984,17632522,17466001,17373762,16749892,16713569,16504561,16344560,15537664,15489334,15231715,14702039,12477932,9110174,8619474,16189514,16169070,20937264,19648609,19766477,20404094 65057 NM_001082486,NM_022914,NM_001082487,AC010530,AY971883,CH471092,AF070535,AK023726,AK125623,AK301090,AY502940,BC016904,CR592709,CR599071,CR603519,CR605529,CR609290,CR610904,CR615919,CR616320,DB040017 NP_001075955,NP_075065,NP_001075956,AAX82621,EAW83154,EAW83155,BAB14658,BAG62692,AAS80318,AAH16904,Q96AP0 Hs.78019 PIP1|PTOP|TINT1|TPP1 POT1 and TIN2 organizing protein|POT1 and TIN2-interacting protein|TIN2 interacting protein 1|adrenocortical dysplasia protein homolog protein-coding 737323 ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Two most abundant alternatively spliced variants of this gene encode two isozymes - the somatic form and the testicular form that are equally active. Multiple additional alternatively spliced variants have been identified but their full length nature has not been determined. [provided by RefSeq] 1581742,1601114,1300243,2313799,1566491,1566498,1598433,1300340,1331525,1601113,1601115,1580863,4140923,4140922,4140920,4140480,2325220,2325221,4140486,2325224,2325227,2325229,2325231,2325232,2325226,2325207,2325213,2325225,2311449,2325208,4140933,2325211,4140915,2325215,4140485,4140914,4140916,4140917,4140918,4140930,4140487,4140925,4140478,4140913,4140488,4140919,4140912 19141296,19136547,19132786,19131662,19130799,19129082,19126662,19126661,19126660,19125277,19119484,19117407,19112833,19110485,19108684,19105203,19103106,19102831,19100063,19099777,19082699,19081678,19081115,19076285,19073835,19072566,19067809,19062524,19061927,19058590,19143971,19057513,19056482,19051693,19050458,19039150,19037561,19034872,19030872,19021774,19021695,19020433,19019335,19018872,19014923,19008959,18996102,18986708,18985387,18974842,18955615,18953568,18947757,18946466,19142023,19502260,19502259,19502258,19502257,19498318,19497121,19484664,19482546,19479237,19478476,19475602,19474452,19463119,19463113,19462670,19423314,19422651,19420105,19409959,19408837,19404196,19390959,19390744,19383228,19379721,19375306,19372095,19371224,19369957,19341158,19339052,19332265,19319668,19307975,19298544,19294883,19293592,19291311,19288324,19286759,19286758,19286757,19280995,19277943,19276555,19268079,19263529,19258445,19255721,19253715,19247692,19247266,19245071,19242491,19237423,19236533,19221299,19210273,19207872,19203483,19196567,19185300,19178938,19176688,19162259,19157170,19156168,19155782,19145770,18936436,18927546,18856058,18849600,18838196,18833197,18830724,18830250,18818748,18813964,18805557,18801770,18792483,18791745,18787808,18787507,18767410,18763423,18758497,18756878,18755533,18754764,18727619,18724972,18718603,18713090,18712159,18711292,18706898,18702808,18698212,18680700,18676575,18674955,18672804,18660489,18652767,18651373,18647135,18641516,18637188,18629615,18622756,18622495,18591916,18589597,18588608,18586276,18578648,18568123,18565253,18563171,18560180,18551123,18551012,18550936,18550651,18550062,18544166,18541327,18523145,18523141,18521860,18516470,18516385,18511872,18504336,18503143,18497458,18496980,18496132,18494379,18491423,18488444,18484085,18479585,18478260,18477980,18457169,18454324,18446309,18446054,18445609,18444962,18443916,18439702,18431347,18431000,18413308,18413222,18413162,18404607,18393230,18389211,18387982,18383374,18366776,18365645,18364271,18347926,18347611,18339134,18333655,18328310,18327080,18318764,18317377,18298340,18294050,18291549,18285758,18284535,18280446,18279468,18269824,18260877,18260840,18258629,18258537,18258525,18242170,18239384,18239157,18235053,18231736,18229571,18210757,18208631,18205097,18205094,18199798,18188985,18181977,18181094,18165925,18156303,18154415,18098237,18081503,18077786,18069999,18060663,18057531,18049432,18049167,18046090,18031458,18027070,18025834,18024289,17993616,17992634,17988266,17987391,17986476,17985406,17984617,17969487,17941464,17938801,17937470,17927479,17922891,17921816,17921431,17921131,17920817,17920311,17915410,17914507,17162847,17162429,17146217,17143591,17142213,17138677,17131920,17131847,17124396,17124384,17123735,17123697,17121351,17118372,17116317,17113662,17111197,17107992,17103020,17094271,17092869,17083336,17083073,17083063,17069434,17066084,17065682,17054027,17044652,17042963,17042482,17035401,17032288,17024648,17023764,17022779,17016614,17014625,17006710,17003923,17003740,17003099,17000927,16998460,16984256,16981144,16981142,16971231,16969640,16962475,16960460,16960022,16954165,16950802,16949519,16937603,16936432,16936219,16935894,16926975,16926677,16926271,16924268,16918342,16915032,16906459,16900885,16898483,16889537,16877959,16876684,16875979,16874006,16866021,16825089,16818212,16797293,16791616,16791358,16789598,16789486,16779534,16775548,16775386,16769256,16765625,16764852,16764031,16754559,16753875,16741935,16741369,16741188,16736244,16728350,16724936,16704688,16685579,16681991,16679984,16679861,16672053,16645262,16642441,16635753,16621107,16615274,16614523,16614502,16612256,16609364,16603315,16600946,16583472,16580777,16572049,16563249,16544732,16538877,16538872,16525944,16525943,16525069,16521406,16521052,16512390,16496610,16496609,16492203,16490688,16488647,16485730,16484896,16477235,16476718,16476442,16468060,16465461,16462911,16450155,16449550,16446094,16443328,16442232,16435992,16434838,16421456,16420563,16416313,16407699,16406141,16395257,16391565,16387306,16386515,16385653,16384981,16384824,16374139,16369102,16365022,16356438,16335952,16319043,16314886,16314202,16312263,16303122,16281482,16274774,16272779,16272677,16270062,16252613,16248996,16247204,16236416,16231503,16230281,16222898,16222048,16221224,16213264,16208534,16202861,16186399,16178979,16176418,16172223,16167906,16166094,16158368,16154999,16146835,16145913,16140645,16136034,16136003,16134592,16133060,16130596,16128377,16128371,16127195,11699055,11696688,11696658,11696022,11692002,11691520,11688760,11677359,11668351,11665795,11640993,11599244,11596779,11593098,11577832,11569699,11568784,11568114,11545752,11544438,11532108,11531970,11527624,11525534,11522715,11522714,11518842,11509536,11507973,11505631,11501342,11498459,11487079,11485566,11485372,11484170,11474225,11473656,11463587,11459796,11447495,11446493,11437027,11436566,11436125,11431175,11428725,11427204,11422735,11421129,11409168,11408790,11402126,11401115,11401071,11399938,11387483,11381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,11707217,12126783,12123491,12123487,12122980,12122874,12119485,12114335,12113906,12102452,12099691,12095411,12084438,12082592,12081578,12070247,12047032,12043886,12043242,12032106,12031990,12031704,12023681,12015946,12015366,12015245,12010139,12006218,11994975,11994001,11992568,1328889,1316930,20299978,20134102,19455482,19913121,20160398,20305326,20454656,20565247,20565774,20567050,20570668,20574532,20574690,20577119,20592051,20594303,20602615,20606419,20606435,20609315,20625269,20625691,20628086,20629643,20639003,20639399,20655774,20655894,20659024,20673306,20673868,20679960,20682687,20682755,20685027,20687780,20688470,20692468,20702504,20722577,20722844,20730398,20734058,20798657,20812241,20816596,20818980,20819590 1581742,1601114,1300243,2313799,1566491,1566498,1598433,1300340,1331525,1601113,1601115,4140923,4140922,4140920,4140480,2325220,2325221,4140486,2325224,2325227,2325229,2325231,2325232,2325207,2325213,2325225,2311449,2325208,4140933,2325211,4140915,2325215,4140485,4140914,4140916,4140917,4140918,4140930,4140487,4140925,4140478,4140913,4140488,4140919,4140912 1636 BM908222,NM_001178057,NM_152830,NG_011648,A31567,AC113554,AF118569,AF229986,AY436326,AY999972,AY999973,CH471109,EU332840,AB208971,AK296566,AK300516,NM_000789,AK301988,AK302019,AK309514,BM908180,J04144,M26657,M29981,S81361,X16295 NP_001171528,NP_000780,NP_690043,CAA02045,AAD28560,AAD28561,AAR03504,ABA39228,ABA39229,EAW94311,EAW94312,EAW94313,EAW94314,EAW94315,EAW94316,EAW94317,EAW94318,EAW94319,EAW94320,EAW94321,ABY87529,BAD92208,BAG59186,BAG62228,BAG63395,BAG63418,AAA51684,AAA60611,AAD14360,CAA34362,P12821,Q16425,Q3KRI5 Hs.298469 ACE1|CD143|DCP|DCP1|MGC26566|MVCD3 CD143 antigen|angiotensin 1 converting enzyme 1|angiotensin converting enzyme, somatic isoform|angiotensin-converting enzyme|carboxycathepsin|dipeptidyl carboxypeptidase 1|dipeptidyl carboxypeptidase I|kininase II|peptidase P|testicular ECA 1643091 BP90_H protein-coding 1347174 ACE2 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq] 1581742,1558664,1642828,2313796,2313798,2313800,2313797,2313799,1581931,1576349,1580863,2325210,4140485,4140483 18343844,20484496,21115782,20349406,20831027,20541774,20674894,21068237,10969042,10924499,18258853,15165741,15380922,17703127,18279660,19411314,19297479,19289653,19286757,19286756,19212105,19164480,19164471,19141296,19136547,19077694,19067252,19051693,19034303,19021774,19020433,18931070,18926157,18814896,18753062,18660448,18560893,18554741,18502721,18496132,18490652,18448527,18441099,18389211,18310257,18223028,18223027,18223023,18208662,18164957,18029348,18022600,17906677,17897017,17504232,17473847,17303661,17079315,17037581,17037544,17037543,17037534,16962475,16912312,16866021,16690935,16574921,16510163,16459167,16338465,16315782,16283142,16215952,16211375,16166518,16166094,16088128,16055515,16006956,16001071,15983030,15979045,15937940,15897467,15791205,15769906,15671045,15640278,15489334,15452268,15361769,15283675,15276642,15233982,15231706,15151696,15141377,15084671,14754895,14670965,14647384,12975309,12967627,12477932,12459472,12075344,12025971,11815627,20660625,20854388,21052031,20798044,19913121,20142028,20592051,20628086,20679547,20813695,16647014,19077419,19461648,19684612,19700132,19716087,19864379,19901337,19924243,19926873,19934006,20117248,20117991,20134095,20160196,20204277,20224560 1581742,1558664,1642828,2313796,2313798,2313800,2313797,2313799,1581931,1576349,2325210,4140485,4140483 59272 NM_021804,NG_012575,AC097625,AF366352,AY217547,CH471074,AB193259,AB193260,AF241254,AF291820,AK026461,AK315144,AL110224,AY358714,AY623811,BC032938,BC039902,BC048094,BC048144,BC059378,CR599955,GQ262784,AB046569 EAW98892,Q9BYF1,NP_068576,AAO25651,EAW98891,BAB40370,BAD99266,BAD99267,AAF78220,AAF99721,BAG37592,CAB53682,AAQ89076,AAT45083,AAH39902,AAH48094,ACT66268 Hs.178098 ACEH|DKFZp434A014 ACE-related carboxypeptidase|angiotensin I converting enzyme 2|angiotensin-converting enzyme 2|angiotensin-converting enzyme homolog|metalloprotease MPROT15 protein-coding 1344470 ACER1 alkaline ceramidase 1 1580863 17713573,17562024,16477081,15489334,12783875,12477932,11915342 125981 NM_133492,AC011491,AC114268,CH471139,AF347024,BC112122,BC112124,CU449837 NP_597999,EAW69104,EAW69105,AAL83822,AAI12123,AAI12125,Q8TDN7 Hs.352609 ALKCDase1|ASAH3|MGC138327|MGC138329 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3|N-acylsphingosine amidohydrolase 3|acylsphingosine deacylase 3|alkCDase 1|alkaline CDase 1|alkaline ceramidase 1 protein-coding 1312176 ACER2 alkaline ceramidase 2 18945876,16940153,15498874,15489334,15164053,12477932,20089856,20379614,20628055 340485 NM_001010887,AL158206,AL391834,CH471071,AF370405,AK123581,AY312516,BC092487 NP_001010887,CAH73022,CAM21146,EAW58634,AAQ15241,BAG53917,AAQ85132,AAH92487,Q5QJU3 Hs.41379 ALKCDase2|ASAH3L|FLJ41587 N-acylsphingosine amidohydrolase 3-like|acylsphingosine deacylase 3-like|alkCDase 2|alkaline CDase 2|alkaline ceramidase 2|ceramide hydrolase|haCER2 protein-coding 1346570 ACER3 alkaline ceramidase 3 1580863 18619555,15489334,14702039,12477932,11356846,19834535,20068046,20379614,19913121,20628086,17207965 55331 NM_018367,AP000752,AP002498,AP003119,CH471076,AF214454,AF327353,AK002100,AK308856,AK315000,BC049837,BC063034,BC073853,BG702017,AK293800,AK294978,AK295142,AK295327,AK316120 NP_060837,EAW75009,EAW75010,EAW75011,EAW75012,AAK71923,AAL56013,BAA92085,BAG37496,AAH73853,Q9NUN7,BAH11598,BAH11938,BAH11988,BAH12032,BAH14491,ADQ31994 Hs.23862 APHC|FLJ11238|PHCA alkCDase 3|alkaline CDase 3|alkaline ceramidase 3|alkaline dihydroceramidase SB89|alkaline phytoceramidase|phytoceramidase, alkaline protein-coding 1353412 ACHAP acetylcholinesterase-associated protein 42 735878 ACHE acetylcholinesterase (Yt blood group) Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq] 2312424,2312432,2312438,2301195,2312430,2301197,2312437,1300048,1580863,1300342,1300297,1300239 20138030,20338155,20356562,20398640,20433814,1517212,11283752,12524166,3954986,12769797,15454088,16289501,14766237,8460160,19468687,19371631,19371630,19327769,19294450,19185568,19156168,19086053,19019080,18780301,18769671,18612832,18470725,18454940,18344198,18299393,18258603,18215127,18194455,18161504,17984143,17948252,17729290,17702992,17606622,17503475,17476278,17370251,17335779,17320203,17272501,17192673,17192630,17192624,16996687,16909200,16832351,16801396,16516310,16429485,16375580,16262697,16256968,16256091,16213467,15974920,15974894,15783300,15715671,15690550,15629887,15526038,15488495,15474030,15459952,15161650,15123727,15078872,15060281,12963741,12928915,12853948,12851386,12811800,12690205,12609505,12604711,12548360,12477932,12466963,12427014,12140295,12081473,12069617,12009429,11804574,11799248,11239002,11053835,11002295,10837146,9847074,9811904,9689136,9640563,9579781,9373149,8488842,8449945,8299725,8280063,8248502,8125298,7836436,7085778,3319614,2734315,2714437,2263619,10800960,20173328,1748670,1744105,1609795,1391965,1380483,18457821,19051205,19730683,20193849,20398908,20431033,8349597,20883446,19913121,20529763,20602615,20628086 2312424,2312432,2312438,2301195,2312430,2301197,2312437,1300342,1300297,1300239 43 NM_015831,NM_000665,NG_007474,AC011895,AF002993,AF312032,AY750146,CH236956,CH471091,L06484,L42812,S71129,AF334270,AK223443,AK291321,AY389977,BC001541,BC026315,BC036813,BC094752,BC105060,BC105062,BC143469,BG707892,M55040 NP_056646,NP_000656,AAP22364,AAP22365,AAK21003,AAU43801,EAL23812,EAL23813,EAW76460,EAW76461,EAW76462,EAW76463,EAW76464,AAC60618,AAO32948,BAD97163,BAF84010,AAR26654,AAH36813,AAI05061,AAI05063,AAI43470,AAA68151,P22303,Q6TQD3 Hs.154495 ARACHE|N-ACHE|YT OTTHUMP00000211347|OTTHUMP00000211356|Yt blood group|acetylcholinesterase|acetylcholinesterase (Yt blood group)|apoptosis-related acetylcholinesterase protein-coding 1353263 ACHM1 achromatopsia (rod monochromacy) 1 1347967 6021 1323663 ACIN1 apoptotic chromatin condensation inducer 1 1580863 10490026,11208865,12393560,18029348,17409846,17081983,16964243,16537548,16177823,16083285,15324660,15302935,14729942,12477932,9734811,16169070,19759913,20800603,18250153,19387494,19615784,19668232 22985 NM_014977,AL117258,AL132780,CH471078,AB014570,AF124726,AF124727,AF124728,AK299034,AL050382,AL833228,BC032770,BC140805,BX247975,CX786860,NM_001164814,NM_001164815,NM_001164816,NM_001164817 NP_055792,EAW66186,EAW66187,EAW66188,BAA31645,AAD56724,AAD56725,AAD56726,BAG61109,CAB43681,CAH10608,AAI40806,CAD62309,Q69YJ6,Q9UKV3,NP_001158286,NP_001158287,NP_001158288,NP_001158289 Hs.124490 ACINUS|ACN|DKFZp667N107|KIAA0670|fSAP152 apoptotic chromatin condensation inducer in the nucleus|functional spliceosome-associated protein 152 protein-coding 1343783 ACLS acrocallosal syndrome 46 10065 ACLY ATP citrate lyase ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1304191,1300342,1580863,1300238,2317316,2317309 1371749,17353931,19461003,18922930,18681781,18660489,17081983,15592455,15489334,15302935,14702039,14681844,12477932,10653665,9116495,8088842,6801225,6109001,3305493,2176822,19019082,19296078,19795461,20615871,8944226,20558738,18029348,20800603,20877624,20693577 1304191,1300342,1300238,2317316,2317309 47 NM_198830,NM_001096,AC091172,CH471152,AB210035,AK095084,AK295675,AK304802,AK312315,BC006195,BG037168,U18197,X64330 NP_942127,NP_001087,EAW60777,EAW60778,EAW60779,EAW60780,EAW60781,BAE06117,BAC04484,BAG58532,BAG65552,AAH06195,AAB60340,CAA45614,P53396,Q4LE36,Q8N9C4 Hs.387567 ACL|ATPCL|CLATP ATP citrate synthase|ATP-citrate (pro-S-)-lyase|ATP-citrate synthase|OTTHUMP00000164773|citrate cleavage enzyme protein-coding 732597 ACMSD aminocarboxymuconate semialdehyde decarboxylase The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM] 632265,1580863 12140278,16189514,15489334,12477932,19843166 632265 130013 AK125008,BC016018,BC107420,BG428338,AB071418,NM_138326,AC016725,CH471058 BAC86023,AAH16018,AAI07421,Q53SR5,Q6ZV40,Q8TDX5,EAX11652,BAB86938,NP_612199,AAY14997,EAX11649,EAX11650,EAX11651 Hs.655728 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase|OTTHUMP00000162501|picolinate carboxylase protein-coding 1313002 ACN9 ACN9 homolog (S. cerevisiae) 1580863 19913121,20628086,10103055,18163977,15489334,12853948,12690205,12477932,20877624 57001 NM_020186,AC073421,AC073900,CH236949,CH471091,AF201933,BC020621,BC022858,BC028409,CD557710 NP_064571,AAS07570,EAL24120,EAW76739,EAW76740,AAF86869,AAH20621,AAH22858,Q9NRP4 Hs.592269 DC11 protein ACN9 homolog, mitochondrial protein-coding 10067 ACO1 aconitase 1, soluble Aconitase 1, also known as iron regulatory element binding protein 1 (IREB1), is a cytosolic protein which binds to iron-responsive elements (IREs). IREs are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. The iron-induced binding to the IRE results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degrading transferrin receptor mRNA. Thus, IREB1 plays a central role in cellular iron homeostasis. It was also shown to have aconitase activity, and hence grouped with the aconitase family of enzymes. 1300239,1300343,1580863 9020582,8764614,8262977,2771641,2172968,1946430,1903202,16527810,16144863,1738601,18262302,17613866,17604281,17521334,17244191,17200797,17127713,16503547,16424901,16407072,16344560,15938636,15543932,15489334,15349772,15099026,12972614,12855587,12572667,12477932,12196178,11812787,11783942,10944468,10419470,17877204,19688112,19762596,19762597,20354189,8041788,20558735,20569198,20574843,20877624 1300239,1300343 48 NM_002197,AL161783,CH471071,DQ496106,AF261088,AK057904,AK308752,BC018103,DA409113,M58510,Z11559,AB209480 NP_002188,CAH72598,CAH72599,EAW58549,EAW58550,EAW58551,EAW58552,ABF47095,AAF99681,AAH18103,AAA69900,CAA77651,P21399,Q59FI0,Q5VZA6,Q9HBB2,BAD92717 Hs.567229 ACONS|IREB1|IREBP|IREBP1|IRP1 IRE-BP 1|OTTHUMP00000021177|aconitate hydratase|citrate hydro-lyase|cytoplasmic aconitate hydratase|ferritin repressor protein|iron regulatory protein 1|iron-responsive element binding protein 1|iron-responsive element-binding protein|iron-responsive element-binding protein 1 protein-coding 733187 ACO2 aconitase 2, mitochondrial The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq] 2306877,1300344,1580863,1300048 1946331,9630632,18029348,19405953,19110265,16625280,16598741,16236267,15952740,15489334,15461802,14972331,12746427,12477932,12198491,11258795,10591208,9020582,8443405,7192199,1602151,1052766,879710,752479,752478,752476,19524665,20607720,20877624 2306877,1300344 50 AF093096,AL008582,AL023553,CH471095,U87926,U87927,U87928,U87929,U87930,U87931,U87932,U87933,U87934,U87935,U87936,U87937,U87938,U87939,AA724140,AK293562,AK296260,AK297213,AK301321,AK302691,AK314845,BC014092,BC026196,CR456365,CR536568,CR592345,CR595461,CR596181,CR596278,CR596641,CR613743,CR614581,CR619036,CR621307,U80040,NM_001098 CAK54363,CAK54662,ABM84600,ABM86762,NP_001089,AAD19351,CAI17931,CAI20278,EAW60435,EAW60436,AAC39921,BAG57034,BAG58973,BAG59696,BAG62870,BAG63920,BAG37362,AAH14092,AAH26196,CAG30251,CAG38805,AAB38416,Q71UF1,Q99798 Hs.643610 ACONM|MGC20605|MGC33908 aconitate hydratase, mitochondrial|citrate hydro-lyase|mitochondrial aconitase (nuclear aco2 gene) protein-coding 1605748 ACOT1 acyl-CoA thioesterase 1 16103133,12477932,20736409,16940157 641371 GU727640,NM_001037161,AC005225,AK300886,BC127747,BC127748,BC132889,BC132891,BC143042,BX161396,DQ082754 ADU87641,NP_001032238,BAG62528,AAI27748,AAI27749,AAI32890,AAI32892,AAI43043,CAD61883,AAZ31236,Q86TX2 Hs.568046 ACH2|CTE-1|LACH2 CTE-I|CTE-Ib|acyl-coenzyme A thioesterase 1|inducible cytosolic acyl-coenzyme A thioester hydrolase|long chain acyl-CoA hydrolase|long chain acyl-CoA thioester hydrolase protein-coding 1317612 ACOT11 acyl-CoA thioesterase 11 This gene encodes a protein with acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Expression of a similar murine protein in brown adipose tissue is induced by cold exposure and repressed by warmth. Expression of the mouse protein has been associated with obesity, with higher expression found in obesity-resistant mice compared with obesity-prone mice. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 20379614,16344560,11696000,16103133,15489334,14702039,12477932,9734811,9373149,8125298,19913121,20628086,20470824 26027 DA121227,NM_015547,NM_147161,AC099796,AL590093,CH471059,AB014607,AF416921,AF416922,AK023937,AK091112,AK223570,BC001517,BC093844,BC093846,AL713723 NP_056362,NP_671517,CAH71611,CAH71612,EAX06682,EAX06683,EAX06684,BAA31682,AAL40937,AAL40938,BAB14734,BAD97290,AAH01517,AAH93844,AAH93846,Q8WXI4 Hs.234786 BFIT|BFIT1|BFIT2|DKFZp667O1916|KIAA0707|STARD14|THEA|THEM1 START domain containing 14|StAR-related lipid transfer (START) domain containing 14|acyl-CoA thioester hydrolase 11|acyl-coenzyme A thioesterase 11|adipose-associated thioesterase|brown fat inducible thioesterase|brown fat-inducible thioesterase|thioesterase superfamily member 1|thioesterase, adipose associated protein-coding 736721 ACOT12 acyl-CoA thioesterase 12 1300048 16951743,16103133,15489334,14702039,12767336,12477932,11322891,20379614 134526 NM_130767,AC008411,AC010623,CH471084,AB078619,AK122960,BC075010,BC075011,BC089437 NP_570123,EAW95874,EAW95875,BAB84022,BAG53821,AAH75010,AAH75011,AAH89437,Q5FWE9,Q8WYK0 Hs.591756 CACH-1|Cach|MGC105114|STARD15|THEAL START domain-containing protein 15|StAR-related lipid transfer (START) domain containing 15|acyl-CoA thioester hydrolase 12|acyl-coenzyme A thioesterase 12|cytoplasmic acetyl-CoA hydrolase 1|cytoplasmic acetyl-coa hydrolase|cytosolic acetyl-CoA hydrolase|hCACH-1 protein-coding 1315172 ACOT13 acyl-CoA thioesterase 13 This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 19405909,19170545,18095154,17704541,17045243,16934754,16344560,15489334,14702039,14574404,12477932,10931946,8889548,20877624 55856 NM_001160094,AL031775,CH471087,CS072377,AF155649,AF220186,AF274952,AK000508,AK309738,BC000894,BG568305,CB852340,CR610760,DB214267,NM_018473 NP_060943,NP_001153566,CAD92509,EAW55460,CAI93515,AAF67006,AAF67651,AAK07529,BAA91215,AAH00894,Q9NPJ3 Hs.727546 HT012|MGC4961|PNAS-27|THEM2 acyl-coenzyme A thioesterase 13|hypothalamus protein HT012|thioesterase superfamily member 2 protein-coding 1605691 ACOT2 acyl-CoA thioesterase 2 Acyl-CoA thioesterases, such as ACOT2, are a group of enzymes that hydrolyze CoA esters, such as acyl-CoAs, bile CoAs, and CoA esters of prostaglandins, to the corresponding free acid and CoA (Hunt et al., 2005 [PubMed 16103133]).[supplied by OMIM] 1625728,2315862,2315861 20379614,17353931,10944470,16940157,19497300,16103133,15489334,15007068,14702039,12665801,12477932,9373149,8125298,7596406,20877624 1625728,2315862,2315861 10965 NM_006821,AC005225,AK001939,AK093131,AK223635,AY005822,BC004436,BC006335,BC006500,CR599069,CR599629,CR610624,CR617797,CR618088,CR622314,CR624943,DQ082755,L40401 NP_006812,BAA91989,BAG52662,BAD97355,AAF97985,AAH04436,AAH06335,AAH06500,AAZ31237,AAC42007,P49753,ABM84414,ABM87405 Hs.699708,Hs.446685 CTE1A|MTE1|PTE2|PTE2A|ZAP128 CTE-Ia|acyl-coenzyme A thioester hydrolase 2a|acyl-coenzyme A thioesterase 2, mitochondrial|long-chain acyl-CoA thioesterase 2|mitochondrial acyl-CoA thioesterase 1|mitochondrial acyl-CoA thioesterase 2|peroxisomal long-chain acyl-coA thioesterase 2 protein-coding 1605006 ACOT4 acyl-CoA thioesterase 4 16940157,18029348,16141203,16103133,15489334,14702039,12477932,10944470,10567408,7596406 122970 NM_152331,AC005225,CH471061,AK055797,AK094223,BC031799,BC090945,BC117341,BC117343,BX248023,BX248047 NP_689544,EAW81120,EAW81121,BAB71017,BAC04313,AAH31799,AAH90945,AAI17342,AAI17344,CAD62346,CAD62354,Q8N9L9 Hs.49433 PTE-Ib|PTE1B|PTE2B PTE-2b|acyl-coenzyme A thioesterase 4|peroxisomal acyl coenzyme A thioester hydrolase Ib|peroxisomal acyl-CoA thioesterase 2B|peroxisomal long-chain acyl-CoA thioesterase Ib protein-coding 1605747 ACOT6 acyl-CoA thioesterase 6 16940157,16103133,12477932 641372 NM_001037162,AC005225,CH471061,BC126378,BC126380,DQ082756 AAI26381,NP_001032239,EAW81122,AAI26379,AAZ31238,Q3I5F7,ADR82840 Hs.122038 C14orf42|MGC161656|MGC161658|c14_5530 putative acyl-coenzyme A thioesterase 6 protein-coding 733878 ACOT7 acyl-CoA thioesterase 7 This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq] 18029348,10578051,16713569,16710414,16103133,15731883,15592755,15489334,14702039,12477932,12435388,19305408,19724895,19851296,20198315 11332 NM_181864,NM_181865,NM_181866,AL031847,AL031848,CH471130,AB074415,AB074416,AB074417,AB074418,AB074419,AK057168,AK289572,AK290097,AK291583,AK292202,AK300831,AL702662,BC017365,BG332214,BM807217,BQ067921,BT006888,BU594651,CR593786,CR594456,CR595220,CR597165,CR599443,CR599569,CR603255,CR604226,CR605522,CR606054,CR608567,CR611815,CR614606,CR615031,CR617887,NM_007274,CR620600,CR620739,D88894,U91316 NP_009205,NP_863654,NP_863655,NP_863656,CAI19435,CAI19440,CAI19442,CAI19443,CAI19774,CAI19777,CAI19778,CAI19779,EAW71527,EAW71528,EAW71529,EAW71530,EAW71531,EAW71532,BAC20174,BAC20175,BAC20176,BAC20177,BAC20178,BAG51874,BAF82261,BAF82786,BAF84272,BAF84891,BAG62482,AAH17365,AAP35534,BAA24350,AAB61211,O00154 Hs.126137 ACH1|ACT|BACH|CTE-II|LACH|LACH1|MGC1126|RP1-120G22.10|hBACH CTE-IIa|OTTHUMP00000200493|acyl-CoA thioesterase 2|acyl-CoA thioesterase, long chain|brain acyl CoA hydrolase|brain acyl-CoA hydrolase|brain acyl-coa hydrolase|cytosolic acyl coenzyme A thioester hydrolase|long chain acyl-CoA thioester hydrolase protein-coding 70372 ACOT8 acyl-CoA thioesterase 8 The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 16756494,10092594,9153233,17624024,16940157,16335799,16141203,16103133,15489334,15194431,14702039,12477932,11780052,11755680,11549316,10944470,10807905,9299485,10799608 10005 NM_005469,AL008726,CH471077,AF014404,AF124264,AK056668,AK292494,AK296973,AK298783,BC117155,BC117157,BI911038,CR541771,CR541778,X86032,BM986979,DB470803 NP_005460,CAC36012,CAC36013,EAW75794,EAW75795,EAW75796,CAA15502,EAW75797,EAW75798,AAB71665,AAD27616,BAG51780,BAF85183,BAG59516,BAG60922,AAI17156,AAI17158,CAG46570,CAG46577,CAA60024,O14734,Q6FHI2,ADR82946 Hs.444776 HNAACTE|PTE-1|PTE-2|PTE1|PTE2|hACTE-III|hTE 4,8-dimethylnonanoyl-coa thioesterase|HIV-Nef associated acyl-CoA thioesterase|HIV-Nef-associated acyl-CoA thioesterase|OTTHUMP00000214962|PTE-1|acyl-coenzyme A thioesterase 8|choloyl-CoA hydrolase|choloyl-coenzyme A thioesterase|hACTEIII|long-chain fatty-acyl-CoA hydrolase|palmitoyl-CoA hydrolase|peroxisomal acyl-CoA thioesterase 1|peroxisomal acyl-coenzyme A thioester hydrolase 1|peroxisomal long-chain acyl-CoA thioesterase 1|thioesterase II|thioesterase III protein-coding 1606811 ACOT9 acyl-CoA thioesterase 9 16103133,14702039,12477932,10810093,10383425 23597 CR601309,CR604879,CR612046,CR612732,CR616902,CR626755,NM_001037171,AC093011,AC131011,CH471074,AF132950,AF241787,AK000659,AK024337,AL548456,BC012573,BC136671,BC144360,BC144370,BX648512,NM_001033583,CR600319,CR618320,NG_016780 Q96EA2,Q9H2R8,Q9Y305,NP_001028755,NP_001032248,EAW98997,EAW98998,AAD27725,AAG44475,BAG51291,AAH12573,AAI36672,AAI44361 Hs.298885 ACATE2|CGI-16|MT-ACT48 OTTHUMP00000023068|OTTHUMP00000215276|acyl-CoA thioester hydrolase 9|acyl-Coenzyme A thioesterase 2, mitochondrial|acyl-coenzyme A thioesterase 9, mitochondrial|mitochondrial Acyl-CoA Thioesterase protein-coding 1344840 ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1298651,1580863 17081983,16396496,16381901,15489336,15489334,14702039,12477932,11815777,11230166,11076863,10960480,10856712,9373149,8798738,8507686,8159712,8125298,8040306,7668838,1464743,8117268,7876265,18281296,18660489,18536048,17458872,16756494,20195242 1298651 51 NM_004035,NM_007292,NG_008190,AC040980,AC087289,CH471099,U03254,U03268,AK095501,AK225897,AK291793,AK292965,AK296409,AK300447,AK308218,BC008767,BC010425,BX537380,CR595778,CR603405,S69189,U07866,X71440,BQ943492,DC297086,NM_001185039,HB873087,HB882949,HB894278,HC930496,HC940358,HC951687 NP_004026,NP_009223,EAW89349,EAW89350,EAW89351,EAW89352,AAA19114,AAA19113,BAF84482,BAF85654,BAG59073,BAG62169,AAH08767,AAH10425,CAD97622,AAB30019,AAA18595,CAA50574,Q15067,CAL38034,NP_001171968,CBF60587,CBF65740,CBF73135,CBU85830,CBU90611,CBU96027 Hs.464137 ACOX|MGC1198|PALMCOX|SCOX AOX|acyl-CoA oxidase, straight-chain|acyl-Coenzyme A oxidase 1, palmitoyl|palmitoyl-CoA oxidase|peroxisomal acyl-coenzyme A oxidase 1|peroxisomal fatty acyl-CoA oxidase|straight-chain acyl-CoA oxidase protein-coding 735528 ACOX2 acyl-Coenzyme A oxidase 2, branched chain The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq] 1580863,1300345,1300244 8943006,15489334,12477932,9070889,8993592,8387517,16756494,20379614 1300345,1300244 8309 NM_003500,AC116036,AJ001541,CH471055,AK298402,AK313512,BC033517,BC047700,BG698950,BI490007,X95190,HB873093,HB882955,HB894284,HC930502,HC940364,HC951693 NP_003491,CAB65596,EAW65375,EAW65376,EAW65377,BAG60633,BAG36292,AAH47700,CAA64489,Q99424,CBF60593,CBF65743,CBF73142,CBU85833,CBU90614,CBU96030 Hs.444959 BCOX|BRCACOX|BRCOX|THCCox 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase|OTTHUMP00000214197|THCA-CoA oxidase|acyl-Coenzyme A oxidase 2, branched chain|peroxisomal acyl-coenzyme A oxidase 2|peroxisomal branched chain acyl-CoA oxidase|trihydroxycoprostanoyl-CoA oxidase protein-coding 736892 ACOX3 acyl-Coenzyme A oxidase 3, pristanoyl Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq] 1580863,1300048 9271077,16344560,15599942,15489334,15231748,12477932,9373149,8387517,8125298,20677014,16756494,20877624 8310 NM_001101667,NM_003501,AC104825,CH471131,AK225080,AK313242,BC017053,CA306669,CR590418,CR609446,DA949869,Y11411,HB873065,HB882927,HB894256,HC930474,HC940336,HC951665 NP_001095137,NP_003492,EAW82339,EAW82340,EAW82341,EAW82342,BAG36053,AAH17053,CAA72214,O15254,CBF60575,CBF65729,CBF73112,CBU85819,CBU90600,CBU96016 Hs.479122 BRCACox|OTTHUMP00000219320|acyl-Coenzyme A oxidase 3, pristanoyl|branched-chain acyl-CoA oxidase|peroxisomal acyl-coenzyme A oxidase 3|pristanoyl-CoA oxidase protein-coding 1315641 ACOXL acyl-Coenzyme A oxidase-like 1580863 19773279,20332261,18758461,15146197,14702039,12477932,20731705 55289 NM_001142807,AC023131,AC096591,AC096670,AC114776,CH471237,AK001904,AK300513,BC022268,BC131514,BX282060,CN426904,CX788840 NP_001136279,AAY14838,AAY24074,AAY14796,EAW50357,EAW50358,EAW50359,EAW50360,BAA91970,BAG62225,AAH22268,AAI31515,Q9NUZ1 Hs.253320 FLJ11042 OTTHUMP00000204261|acyl-CoA oxidase-like protein|acyl-coenzyme A oxidase-like protein protein-coding 10069 ACP1 acid phosphatase 1, soluble The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1300048,2313182,2313184,2313187,2313188,2313186,1625289,1358577,1625288,1580863,2313179,2313180,2313183 20581655,1587862,17353931,19246900,19217450,18992867,18786445,18768081,18604186,18490013,18262048,17703100,17678914,17565542,17472574,17390764,17171650,16973312,16893901,16762482,16344560,16253994,16224193,16189514,16036221,15988697,15974295,15951569,15586390,15489334,15359537,15281007,15230135,14637146,12942785,12815062,12640337,12477932,12438242,20805743,10940933,12418966,12409270,12231445,12167657,12100313,11976341,11971983,11963573,11912546,11785295,11534018,11436564,11369750,10608891,10336608,9705307,9684876,9499402,9038134,8586411,8364553,4356849,4065897,1939112,1627603,1304913,736044,457131,16169070,19569002,19570551,19622628,19789510,20379614,19913121,20587610,20628086,18029348,20816195 2313182,2313184,2313187,2313188,2313186,1358577,1625288,2313179,2313180,2313183 52 NR_024080,NM_007099,NM_001040649,NG_012035,AC079779,CH471053,L06508,U25847,U25849,AB209838,AK289934,AK291861,BC007422,NM_004300,BC020699,BC106011,BI460080,BJ992018,BT007136,BX481618,CR591454,CR597555,CR599434,CR607431,CR609595,CR609802,CR613475,CR624312,DA378283,DB443811,M83653,M83654,M87545,M87546,S62884,S62885,Y16846 NP_004291,NP_009030,NP_001035739,AAY14958,EAX01111,EAX01112,EAX01113,EAX01114,EAX01115,EAX01116,AAB59628,AAC52067,BAD93075,BAF82623,BAF84550,AAH07422,AAI06012,AAP35800,AAB59354,AAB59355,AAB27085,AAB27086,CAA76416,O75702,P24666,Q59EH3 Hs.558296 HAAP|MGC111030|MGC3499 LMW-PTP|LMW-PTPase|OTTHUMP00000199914|OTTHUMP00000199915|acid phosphatase of erythrocyte|adipocyte acid phosphatase|cytoplasmic phosphotyrosyl protein phosphatase|low molecular weight cytosolic acid phosphatase|low molecular weight phosphotyrosine protein phosphatase|protein tyrosine phosphatase|red cell acid phosphatase 1 1643262,1643271 BW207_H,BW214_H protein-coding 10071 ACP2 acid phosphatase 2, lysosomal This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Mutations in this gene or in the related alpha subunit gene cause acid phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1300048,1300245,1580863 3191910,2776754,17357082,16344560,15489334,12477932,11801736,9110174,9040486,8619474,7576159,6970673,6651479,6193776,6164873,5410815,3904632,3160696,975882,730175,69583,19064571 1300245 53 NG_023296,NM_001610,NM_001131064,AC018410,CH471064,X15525,X15535,AK308512,AK311431,AY007137,BC003160,BC093010,CR615614,DA382854,DC337294,X12548,AK298122,AK298439,AK299382,AK300569,AK300911,AK300931,AK301860,AK303894 NP_001601,NP_001124536,EAW67950,EAW67951,CAA33542,AAH03160,AAH93010,CAA31064,P11117,ABM83595,ABM86839,BAH12728,BAH12788,BAH13021,BAH13304,BAH13374,BAH13379,BAH13568,BAH14075 Hs.532492 LAP|acid phosphatase 2|lysosomal acid phosphatase protein-coding 10073 ACP5 acid phosphatase 5, tartrate resistant This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq] 1300048,2315882,2315909,2315910,1300346,1580863 2775236,19026169,19010793,18979172,18703035,18410226,18320034,18285546,18221403,18053985,17997709,17357281,17088078,16869970,16620768,16280328,16200454,15993892,15950921,15878315,15701839,15542543,15489334,15342556,12901871,12845688,12820342,12589973,12477932,12450668,12073156,12009023,11983200,10862785,10389595,9521821,9373149,8889548,8449511,8200916,8195113,8188227,8125298,2909539,2808373,2610679,2473026,2334436,1872798,16169070,8359686,2338077,20416078,18421493,19765782,17207965,20967488 2315882,2315909,2315910,1300346 54 NM_001111036,NM_001111035,NM_001111034,NM_001611,AC020947,CH471106,X67123,AK225912,AK290717,AK307164,BC025414,BC111014,BM708166,BP367008,BX365007,CR457078,CR602962,CR615022,CR616016,CR617566,CR618497,CR624625,J04430,X14618,FB775570 NP_001104506,NP_001104505,NP_001104504,NP_001602,EAW84232,EAW84233,EAW84234,BAF83406,AAH25414,AAI11015,CAG33359,AAA76849,CAA32771,P13686,ACE87273,ADQ32269,CAV30742 Hs.1211 MGC117378|TRAP TrATPase|acid phosphatase 5|tartrate-resistant acid ATPase|tartrate-resistant acid phosphatase type 5 protein-coding 1314899 ACP6 acid phosphatase 6, lysophosphatidic 1580863 17207965,20877624,10506173,17353931,16710414,15489334,15340161,15280042,14702039,12975309,12477932,12010880,9820827,16169070 51205 NM_016361,AL359207,CH471223,AB030039,AB031478,AB209248,AK000657,AK308593,AK310693,AY358552,BC009965,BC011644,BC034686,CR457101,CR598748,CR611952,CR613106,CR620074 ADQ32397,NP_057445,CAI15199,BAA94309,BAA89311,BAD92485,BAA91310,AAQ88916,AAH09965,AAH34686,CAG33382,Q9NPH0,EAW50931 Hs.562154 ACPL1|LPAP|PACPL1 acid phosphatase like 1|acid phosphatase-like protein 1|lysophosphatidic acid phosphatase type 6 protein-coding 1342803 ACPL2 acid phosphatase-like 2 1580863 12975309,12477932,19893584,20379614 92370 BC036701,BX647621,CA421956,CD101677,BC035834,NM_152282,NM_001037172,AC022215,AC117383,CH471052,AK074331,AK296292,AK297790,AK316121,AL137529,AY358460 AAH35834,AAH36701,Q8TE99,Q9NT50,NP_689495,NP_001032249,EAW79007,EAW79008,EAW79009,BAB85053,BAH12305,BAH12668,BAH14492,CAB70793,AAQ88825 Hs.657887 FLJ23751 OTTHUMP00000217722|OTTHUMP00000217724|OTTHUMP00000217725|OTTHUMP00000217726|acid phosphatase-like protein 2 protein-coding 736505 ACPP acid phosphatase, prostate This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq] 1300048,2301055,2301054,2301052,1300346,1300246,1580863 20645695,19403677,19108401,18940592,17638863,17455230,16076555,16004602,15985366,15862967,15578709,15280042,15240830,14690244,14623260,12962324,12719131,12525165,12477932,12362977,12032838,11983210,11833784,11784334,11739538,11547122,11377343,11067847,10851066,10639192,10506719,10477906,10452601,9804805,9708626,9705354,9584847,9187691,8407898,8244395,8132635,8110833,8037752,7951074,7923807,2965059,2842184,2712834,2411954,2395659,1989985,1699876,1696855,1375464,480493,76687,20392611,19301031,19636017,19759923,19902966,20379614,20498373 2301055,2301054,2301052,1300346,1300246 55 NM_001134194,NM_001099,AC020633,CH471052,M97589,U07086,U07097,X71391,X74961,AA578274,AB102888,AK300540,AW136372,BC007460,BC008493,BC016344,BC017877,BQ100881,DC383453,M24902,M34840,X52174,X53605 NP_001127666,NP_001090,EAW79201,EAW79202,EAW79203,EAW79204,EAW79205,AAA60021,AAB60640,CAA50514,CAA52913,BAD89417,BAG62248,AAH07460,AAH08493,AAH16344,AAH17877,AAA60022,AAA69694,CAA36422,CAA37673,P15309,Q5FBY0,Q6LBH1,ABM84074,ABM87442 Hs.433060 ACP-3|ACP3|PAP OTTHUMP00000216107|prostatic acid phosphatase|prostatic acid phosphotase protein-coding 1317948 ACPT acid phosphatase, testicular Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 15219672,11414767 93650 NM_033068,AC010325,AF321918,CH471135 NP_149059,AAK09393,AAK09394,AAK09395,AAK09396,EAW71900,EAW71901,EAW71902,EAW71903,EAW71904,Q9BZG2,AAI40295,AAI46507 Hs.293394 testicular acid phosphatase protein-coding 736688 ACR acrosin Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. 1580863 1937464,6802470,6815104,15950652,10418103,3880736,10369396,12398221,16344560,15955892,15461802,12931362,12801583,12477932,11839395,11739644,11076863,10734459,6357995,2606479,2550339,2493394,2298447,2114285,1907596,1783391,1628652,15782160,7521127,15950651 49 NM_001097,AC000036,AC002056,CH471138,M77378,M77379,M77380,M77381,X54017,X66188,AK310316,CR456366,DB054152,Y00970 NP_001088,EAW73587,EAW73588,AAA51572,AAA51573,AAA51574,AAA51575,CAA37964,CAA46956,CAG30252,CAA68784,P10323,AAI11594,CAK54364,CAK54663 Hs.370870 acrosin|preproacrosin|proacrosin protein-coding 1344974 ACRBP acrosin binding protein The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq] 1580863 16301813,15489334,12477932,11248070,20876808 84519 NM_032489,AC135892,CH471116,AB051833,AF085884,AK302290,AK311572,AK312782,BC033010 NP_115878,EAW88774,BAB39388,BAG63630,BAG35645,AAH33010,Q8NEB7,ABM81798,ABM84954 Hs.123239 CT23|FLJ51160|OY-TES-1|SP32 acrosin-binding protein|cancer/testis antigen 23|cancer/testis antigen OY-TES-1|proacrosin binding protein sp32 protein-coding 1346265 ACRC acidic repeat containing 1580863 16344560,14702039,11714101,12477932 93953 NM_052957,AL590763,CH471132,AJ311392,AK097433,AK127607,BC136259,DB073623 NP_443189,EAX05284,CAC60255,BAC05051,BAG54533,AAI36260,Q96QF7 Hs.135167 NAAR1 OTTHUMP00000032172|acidic repeat-containing protein|putative nuclear protein protein-coding 1351105 ACRV1 acrosomal vesicle protein 1 This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. This gene consists of 4 exons and its alternative splicing generates multiple distinct transcripts, which encode protein isoforms ranging from 81 to 265 amino acids. The longest transcript is the most abundant, comprising 53-72% of the total acrosomal vesicle protein 1 messages; the second largest transcript comprises 15-32%; the third and the fourth largest transcripts account for 3.4-8.3% and 8.7-12.5%, respectively; and the remaining transcripts combined account for < 1% of the total acrosomal vesicle protein 1 message. It is suggested that phenomena of cryptic splicing and exon skipping occur within this gene. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration, and it is a potential contraceptive vaccine immunogen for humans. [provided by RefSeq] 1580863 1693291,15489334,12477932,11730901,9373149,8373955,8288254,8125298,7888499,7619499,2298314,1637938 56 AAB34927,AAB34928,AAB34929,AAB34930,AAB34931,AAB34933,AAB34935,AAB34936 BG720361,BI826178,DB446200,NM_020069,NM_020115,NM_020110,NM_020107,NM_020113,NM_020108,NM_020111,NM_020109,AP001132,CH471065,NM_001612,S65576,S65578,S65583,S65606,AB451476,AK223335,BC014588,H93373,M82967,M82968,HC006756 AAB34930,AAB34931,AAB34933,AAB34935,AAB34936,P26436,NP_001603,NP_064454,NP_064500,NP_064495,NP_064492,NP_064498,NP_064493,NP_064496,NP_064494,EAW67648,EAW67649,EAW67650,EAW67651,EAW67652,EAW67653,EAW67654,EAW67655,EAW67656,EAW67657,EAW67658,EAW67659,AAB28238,BAG70290,BAD97055,AAH14588,AAA36625,AAA36626,AAB34927,AAB34928,AAB34929,CBH19184 Hs.169222,Hs.596575 D11S4365|SP-10|SPACA2 acrosomal protein SP-10|sperm protein 10 protein-coding 733957 ACSBG1 acyl-CoA synthetase bubblegum family member 1 The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq] 19240061,15800013,14702039,14516277,12975357,12477932,11112418,10954726,9734811,9110174,8619474,20691247,20379614,15464426,16371355 23205 NM_015162,AC090260,AC090607,CH471136,AF070624,AF179481,AK054882,AK294202,AK295269,AK299597,AK314508,BC009289,BC040252,HB881625,HC939034,DC401742,NM_001199377 ABM87427,ABW03887,Q96GR2,NP_055977,EAW99180,AAG09404,BAG51439,BAH11696,BAH12022,BAH13077,BAG37108,AAH09289,CBF65091,CBU89962,NP_001186306 Hs.655760 BG|BG1|BGM|FLJ30320|GR-LACS|KIAA0631|LPD|MGC14352|hBG1|hsBG bubblegum|hsBGM|lipidosin|lipodisin|long-chain-fatty-acid--CoA ligase ACSBG1|ortholog of rodent gonadotropin-regulated long chain acyl-CoA synthetase|very long-chain acyl-CoA synthetase protein-coding 1604279 ACSBG2 acyl-CoA synthetase bubblegum family member 2 16762313,16371355,15685348,14702039,12975309,12477932,11230166,9373149,8125298 81616 NM_030924,AC011471,AC104538,AK057412,AK093433,AK225862,AK302604,AL040604,AL136854,AY009107,AY358766,BC022027,BC090046,BI561348,CH471139,AJ577571,HC006758 NP_112186,CAE12157,BAB71476,BAG52714,BAG63853,CAB66788,AAG49398,AAQ89126,AAH22027,AAH90046,CAE12156,Q5FVE4,ABM81759,EAW69111,ABM84914,ACE87201,ACE86522,CBH19185 Hs.465720 BGR|BRGL|DKFZp434K1635|MGC111089|PRTD-NY3|PRTDNY3 BGR-like|bubblegum-related protein|long-chain-fatty-acid--CoA ligase ACSBG2 protein-coding 1604594 ACSF2 acyl-CoA synthetase family member 2 17762044,16380219,12975309,12477932,9373149,8889548,8125298,20877624 80221 NM_025149,AC004707,AC021491,CH471109,AK024573,AK225044,AK225561,AK294205,AK295258,AK300145,AK300625,AK308584,AY358660,BC012053,BC014123,CA945050,CR617763,DC384989 NP_079425,EAW94612,BAB14930,BAG57517,BAG58247,BAG61931,BAG62317,AAQ89023,AAH12053,AAH14123,Q96CM8 Hs.288959 ACSMW|AVYV493|FLJ20920 OTTHUMP00000221348|OTTHUMP00000221349|OTTHUMP00000221350|PPARG binding, long chain fatty acid acyl Co-A ligase like|acyl-CoA synthetase family member 2, mitochondrial protein-coding 1604214 ACSF3 acyl-CoA synthetase family member 3 17762044,18029348,16344560,16303743,14702039,12477932,20877624 197322 NM_001127214,NR_023316,AC009113,AC135782,CH471184,CS051329,AK075499,AK096561,AK290963,BC028399,BC064609,BC072391,CR606678,NM_174917,CR623892,CR624745,CR976321,DA062861,CR615543,HI573908 NP_777577,NP_001120686,EAW66744,CAI72159,BAC11654,BAF83652,AAH28399,AAH64609,AAH72391,Q4G176,Q6P2C7,CBX47443 Hs.461727 FLJ39242 acyl-CoA synthetase family member 3, mitochondrial protein-coding 1342971 ACSL1 acyl-CoA synthetase long-chain family member 1 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. [provided by RefSeq] 70279,1625737,1625735,1625742,2317576 20176858,10548543,1531127,16054041,18660489,16834775,15489334,15292367,14702039,12477932,8889548,8584017,8399326,7948012,7490105,7429333,2973813,2341402,2007410,1607358,1599407,20877624,8944226 70279,1625737,1625735,1625742,2317576 2180 NM_001995,AC079257,AC084871,CH471056,AK096117,AK292798,AK296550,AK296826,AK303486,BC026290,BC033479,BC050073,BG680610,BG773086,BI461964,BM982557,CR597120,CR598751,CR614171,D10040,DQ083028,DQ083029,L09229,HB881341,HC938750 NP_001986,EAX04662,EAX04663,EAX04664,EAX04665,BAC04704,BAF85487,BAH12385,BAH12438,BAG64522,AAH26290,AAH50073,BAA00931,AAZ30711,AAZ30712,AAB00959,P33121,Q108N1,Q108N2,CBF64949,CBU89820 Hs.406678 ACS1|FACL1|FACL2|LACS|LACS1|LACS2 LACS 1|LACS 2|OTTHUMP00000218457|OTTHUMP00000218460|OTTHUMP00000218462|OTTHUMP00000218465|acyl-CoA synthetase 1|fatty-acid-Coenzyme A ligase, long-chain 1|fatty-acid-Coenzyme A ligase, long-chain 2|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 1|long-chain acyl-CoA synthetase 2|long-chain fatty acid-CoA ligase 2|long-chain fatty-acid-coenzyme A ligase 1|long-chain-fatty-acid--CoA ligase 1|palmitoyl-CoA ligase 1|palmitoyl-CoA ligase 2|paltimoyl-CoA ligase 1 protein-coding 1602231 ACSL3 acyl-CoA synthetase long-chain family member 3 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 2317576 20308079,20219900,8663269,17220478,19221603,18003621,17901542,17761945,16354793,15556626,15489334,15302935,15292367,14702039,12477932,11707336,9177793,8889548,7987323,6240978,1848073,1433226,20605918,17379924,8944226 2317576 2181 NM_004457,NM_203372,AB061436,AC013476,AC016712,CH471063,AB061712,AF116690,AI378485,AK001471,AK023191,AK314621,BC012066,BC032144,BC041692,BF679686,BG772246,BM971377,BQ435549,BX472576,CR608706,D89053,N44998,HB881571,HC938980 NP_004448,NP_976251,BAB72139,EAW70807,EAW70808,EAW70809,BAB72074,AAF71110,BAG50918,BAG51167,BAG37187,AAH32144,AAH41692,BAA37142,O95573,Q6PIM8,Q9P1E5,CBF65064,CBU89935 Hs.655772 ACS3|FACL3|PRO2194 LACS 3|fatty-acid-Coenzyme A ligase, long-chain 3|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 3|long-chain-fatty-acid--CoA ligase 3 protein-coding 1344693 ACSL4 acyl-CoA synthetase long-chain family member 4 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863,2317576 8944226,10669417,19617635,20351714,9480748,9598324,18029348,19346733,18614287,18059177,17934335,16276108,15849811,15489334,15292367,15146197,15108178,12949969,12824887,12525535,12477932,11889465,11731423,10874125,9598718,1567471 2317576 2182 NM_022977,NG_008053,AB061711,AL118496,AL138968,AL590647,CH471120,AB061713,AB061714,AF030555,AK292070,AK294915,AK307566,BC034959,BQ016115,CN310691,CR603171,DR004263,Y12777,Y13058,NM_004458 NP_004449,NP_075266,BAB88649,CAI42299,CAI42036,EAX02671,EAX02672,EAX02673,EAX02674,BAB86900,BAB86901,AAC17493,BAF84759,BAG58000,AAH34959,CAA73314,CAA73501,O60488,Q8TAF6,ABM81761,ABM84916 Hs.268785 ACS4|FACL4|LACS4|MRX63|MRX68 LACS 4|OTTHUMP00000216982|acyl-CoA synthetase 4|fatty-acid-Coenzyme A ligase, long-chain 4|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 4|long-chain fatty-acid-Coenzyme A ligase 4|long-chain-fatty-acid--CoA ligase 4 protein-coding 1604361 ACSL5 acyl-CoA synthetase long-chain family member 5 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 2317576 8944226,11707336,11319232,11127823,9373149,8125298,19218499,18806831,18228202,17761945,17681178,17495181,16198472,15809837,15736044,15489334,15292367,15164054,14608540,12975309,12477932,12147264,20470896,16385451,20379614,20877624 2317576 51703 NM_203379,NM_203380,NM_016234,AB033920,AJ347687,AL157786,CH471066,CS248458,AB033899,AJ496489,AK000339,AK024932,AK222782,AK223288,AK301786,AK310436,AL708480,AM262166,AY358520,BC007985,CD689921,CF595490 NP_976313,NP_976314,NP_057318,BAA86054,CAC79123,CAH72510,EAW49532,EAW49533,EAW49534,EAW49535,EAW49536,EAW49537,EAW49538,EAW49539,CAJ56749,BAA85979,CAD43000,BAG63242,CAK18174,AAQ88884,AAH07985,Q9ULC5,ABM84192,ABM87595 Hs.11638 ACS2|ACS5|FACL5 FACL5 for fatty acid coenzyme A ligase 5|LACS 5|fatty acid coenzyme A ligase 5|fatty-acid-Coenzyme A ligase, long-chain 5|long-chain acyl-CoA synthetase 5|long-chain fatty acid coenzyme A ligase 5|long-chain-fatty-acid--CoA ligase 5 protein-coding 1349836 ACSL6 acyl-CoA synthetase long-chain family member 6 Long-chain acyl-CoA synthetases (EC 6.2.1.3), such as ACSL6, catalyze the formation of acyl-CoA from fatty acids, ATP, and CoA (Malhotra et al., 1999 [PubMed 10548543]).[supplied by OMIM] 1580863,2315920,1599805,1599808,2317576 8944226,10548543,18804346,18718982,18555221,17567994,17030554,16834775,16827919,16806233,16572202,15292367,14702039,12477932,10502316,10048485,12767919,19064571,20379614,20429931 2315920,1599805,1599808,2317576 23305 NM_015256,NM_001009185,AC034228,CH471062,AB020644,AF099740,AF102845,AF129166,AK122702,AK294291,AK314452,AW952652,BC026161,BC047453,BI545119,BI548729,CR606980,DQ083030,DQ083031,DQ655980 NP_056071,NP_001009185,EAW62355,EAW62356,EAW62357,EAW62358,EAW62359,EAW62360,BAA74860,AAD17853,AAD47199,BAG53676,BAG57574,BAG37060,AAH26161,AAH47453,AAZ30713,AAZ30714,Q4G191,Q9UKU0 Hs.14945 ACS2|FACL6|FLJ16173|KIAA0837|LACS 6|LACS2|LACS5 OTTHUMP00000065953|OTTHUMP00000065954|OTTHUMP00000065955|OTTHUMP00000065957|OTTHUMP00000198259|OTTHUMP00000198261|fatty-acid-Coenzyme A ligase, long-chain 6|long fatty acyl-CoA synthetase 2|long-chain acyl-CoA synthetase 6|long-chain-fatty-acid--CoA ligase 6 protein-coding 1315639 ACSM1 acyl-CoA synthetase medium-chain family member 1 1580863 18632593,18347602,15361761,14702039,12654705,12477932,11470804,19913121,20628086,20679960,20185149,20877624 116285 NM_052956,AB062503,AC003034,AC020926,AC141273,CH471228,AB059429,AK092574,AK314282,BC125177,BC125178 NP_443188,BAB68363,AAC23498,EAW66826,EAW66827,EAW66828,BAB64535,BAG36941,AAI25178,AAI25179,O75203,Q08AH1 Hs.306812 BUCS1|MACS1|MGC150532 Butyrate CoA ligase|acyl-coenzyme A synthetase ACSM1, mitochondrial|butyrate--CoA ligase 1|butyryl Coenzyme A synthetase 1|butyryl coenzyme a synthetase 1|butyryl-coenzyme A synthetase 1|lipoate-activating enzyme|medium-chain acyl-CoA synthetase|middle-chain acyl-CoA synthetase 1 protein-coding 1606171 ACSM2A acyl-CoA synthetase medium-chain family member 2A 2317576 19345228,16344560,14702039,12477932,10493829,20877624 2317576 123876 NM_001010845,AC003034,AC137056,AI340924,AK055867,AK091878,AK096039,AK096132,AK298359,AK298434,AK303774,BC125175,BC125176,DA034571,DC362857,AK091978 NP_001010845,AAC23497,BAG51587,BAG53201,BAH12766,BAG60655,BAH14046,AAI25177,Q08AH3,BAC03784,Q8NAW3 Hs.298252,Hs.656497 A-923A4.1|ACSM2|FLJ34659|MGC150530 Homolog of rat kidney-specific (KS)|acyl-coenzyme A synthetase ACSM2A, mitochondrial|butyrate--CoA ligase 2A|butyryl-coenzyme A synthetase 2A|middle-chain acyl-CoA synthetase 2A protein-coding 1604166 ACSM2B acyl-CoA synthetase medium-chain family member 2B 2317576 16521160,15221005,15122652,12616642,11415461,10434065,8934636,8884467,20679960 2317576 348158 NM_001105069,NM_182617,AC141053,AC141273,AB073604,AK129944,AK289416,AK309601,AY160217,BC026010,DC329427,DC362610,DC362960,DC362964,DC412825 NP_001098539,NP_872423,BAD38642,BAF82105,AAO17576,Q68CK6,AAI72335 Hs.298252,Hs.567879 ACSM2|HXMA|HYST1046 acyl-CoA synthetase medium-chain family member 2|acyl-coa synthetase medium-chain family member 2|acyl-coenzyme A synthetase ACSM2B, mitochondrial|butyrate--CoA ligase 2B|butyryl-coenzyme A synthetase 2B|middle-chain acyl-CoA synthetase 2B|xenobiotic/medium-chain fatty acid-CoA ligase HXM-A|xenobiotic/medium-chain fatty acid:CoA ligase protein-coding 735798 ACSM3 acyl-CoA synthetase medium-chain family member 3 1579978,1601004,634023,2317576 19913121,20628086,20679960,19578796,20084102,20379614,7907320,19262474,19108963,18660489,18519841,18192838,17278971,17070428,15361761,14567496,12484505,12477932,12046348,11772874,11470804,11158418,10493829,9373149,8135833,8125298,7843754,20877624 1579978,1601004,634023,2317576 6296 NM_005622,NM_202000,AC004381,CH471228,AK223139,AK290322,AK296122,BC002790,BI770558,BI826935,BM828310,BU170035,CA425752,D16350,X80062 NP_005613,NP_973729,AAC31667,EAW66834,EAW66835,BAD96859,BAF83011,BAG58869,AAH02790,BAA03853,CAA56369,Q53FZ2,ABM83905,ABM87226,ABW03856 Hs.706754 SA|SAH SA (rat hypertension-associated) homolog|SA hypertension-associated homolog|acyl-coenzyme A synthetase ACSM3, mitochondrial|butyrate--CoA ligase 3|butyryl-coenzyme A synthetase 3|middle-chain acyl-CoA synthetase 3|protein SA homolog|sa rat hypertension-associated homolog 2315775 GLUCO145_H protein-coding 1642901 ACSM4 acyl-CoA synthetase medium-chain family member 4 2317576 17762044,20877624 2317576 341392 NM_001080454,AC131205 NP_001073923,P0C7M7 Hs.450804 acyl-coenzyme A synthetase ACSM4, mitochondrial protein-coding 1603027 ACSM5 acyl-CoA synthetase medium-chain family member 5 17762044,12477932,11752456,20383146,20877624 54988 NM_017888,AC137056,CH471186,AK000588,AV648626,AV653851,AV696798,BC013753,BC016703,BC068516,BX505437 NP_060358,EAW50317,EAW50318,EAW50319,BAA91273,AAH13753,AAH16703,AAH68516,Q6NUN0 Hs.659606 FLJ20581 acyl-coenzyme A synthetase ACSM5, mitochondrial protein-coding 1314754 ACSS1 acyl-CoA synthetase short-chain family member 1 An acetyl-CoA synthetase found in the mitochondrial matrix has been characterized in both cow and mouse. It is primarily a cardiac enzyme which produces acetyl-CoA mainly for the oxidation of acetate. The protein encoded by this gene is structurally similar to the cow and mouse proteins and therefore may serve a similar function in humans. [provided by RefSeq] 1580863,2317576 15489334,14702039,12477932,11780052,11347906,11150295,11214971,20877624,16788062,19535340,19724895,19851296,20198315,20379614 2317576 84532 AL035661,AL080312,CH471133,AB058749,AK024396,AK024424,AK027817,AK090851,AK092295,AK094414,AK125058,AK125923,AK127566,AK296306,AK314440,AL832939,AL833041,BC032076,BC039261,BC044588,NM_032501,BC055008,BC114612,CR593620,CR616020,CR624354 NP_115890,CAI21828,CAI18916,CAI18917,EAX10106,EAX10107,EAX10108,EAX10109,EAX10110,EAX10111,BAB47475,BAB15714,BAB55390,BAC03530,BAC03853,BAC86035,BAG54524,BAG59005,CAH56320,CAH56303,AAH39261,AAH44588,AAH55008,AAI14613,Q1RMZ4,Q5TF43,Q658R1,Q658X4,Q6ZV30,Q7Z5G3,Q8N2B9,Q9H7Q4,Q9NUB1 Hs.529353 ACAS2L|AceCS2L|FLJ45659|MGC33843 acetate--CoA ligase 2|acetyl-Coenzyme A synthetase 2 (AMP forming)-like|acetyl-coenzyme A synthetase 2-like, mitochondrial|acetyl-coenzyme a synthetase 2 (amp forming)-like protein-coding 1313544 ACSS2 acyl-CoA synthetase short-chain family member 2 This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,2317576 19913121,20628086,10843999,15231747,18029348,18660489,16788062,16344560,15489334,14702039,12477932,11780052,20353815,19617323,20416077 2317576 55902 AL049709,AL133324,CH471077,AF263614,AI674262,AK000162,AK000188,AK022608,AK025990,AK092281,AK098026,AK293634,AL359946,BC010141,BC012172,BC073846,BC098422,CR620320,CR749716,DA411343,DA626707,DA628275,DA630609,NM_001076552,NM_018677,NG_011520,NR_028046 CAI19725,CAI19726,CAI19311,CAI19312,EAW76242,EAW76243,EAW76244,EAW76245,EAW76246,EAW76247,EAW76248,AAF75064,BAB14127,BAC03849,BAG53564,BAG57090,AAH10141,AAH12172,AAH73846,AAH98422,CAH18485,Q5QPH3,Q68CU9,Q6DKJ3,Q8N238,Q96FY7,Q9H9U4,Q9NR19,NP_001070020,NP_061147 Hs.517034 ACAS2|ACECS|ACS|ACSA|DKFZp762G026|dJ1161H23.1 acetate thiokinase|acetate--CoA ligase|acetate-CoA ligase|acetyl-Coenzyme A synthetase 2 (ADP forming)|acetyl-coenzyme A synthetase, cytoplasmic|acetyl-coenzyme a synthetase 2 (adp forming)|acyl-activating enzyme|cytoplasmic acetyl-coenzyme A synthetase protein-coding 1603012 ACSS3 acyl-CoA synthetase short-chain family member 3 17762044,12477932,20379614 79611 NM_024560,AC078920,AC078955,AC134506,CH471054,AK025616,AK074267,AK074938,BC009317,BC015769,HC890635,HC895167 NP_078836,EAW97372,EAW97373,BAB15190,BAC11304,AAH09317,AAH15769,Q9H6R3,CBN59805,CBN62022 Hs.259559 FLJ21963 acyl-CoA synthetase short-chain family member 3, mitochondrial protein-coding 737580 ACTA1 actin, alpha 1, skeletal muscle The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq] 1298659,1559154,1598720,1300347,1300247 20332100,10508519,12849983,11333380,15198992,19389844,19383239,19150851,19002257,18976909,18461503,18063690,17387733,16945536,16916647,16427282,15679046,15520409,15507486,15489334,15468086,15454575,15336687,15236405,15152255,15107502,15072110,14702039,14684598,14668487,14640694,14576350,14506234,11429692,11415434,11309382,11259305,11171322,11166164,11106625,11090452,11071908,11053353,11027608,11018051,10984435,10958653,10882740,10793131,10666339,10628374,10601340,10583954,10581178,10575001,10564664,10559237,10438535,10366597,10224093,10072583,9852149,9832551,9792688,9724539,9668039,9645951,9512503,9490638,9417078,9298982,9251807,9214391,9199170,8999969,8612804,8567732,8422497,8413665,8258301,7908614,7908020,7820861,7816144,7780165,7703225,7680654,7503723,6893424,6865942,6190133,3842206,3793760,2936753,2907503,2455687,2395459,2161834,1808202,1544421,1383230,1074709,648524,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,11297527,11441066,12438125,12417592,8416954,9153421,17010111,10806479,15149849,11897493,10320340,12062430,12577067,12695497,14507647,15059972,14594945,14592989,14634002,10491393,11691822,12384700,14688263,9695962,12438242,15494313,12554937,20452215,16568092,20809254,12857853,12721663,12714565,12665555,12571245,12534372,12480535,12477932,12475945,12466270,12417594,12388543,12383268,12210873,12163017,12127568,12119014,12048248,12044158,12033495,12006649,11969288,11950878,11889126,11877456,11850458,11839310,11821948,11812134,11795944,11707283,11702052,11701614,11583571,11580270,11536049,11524436,11481347,11468283,11461920,11438522,20169155,20630939,1423520,17082770,19233165,19562689,19634497,19635823,19819966,19934221,19948975,20100475,20201926,20378355,20388088,7642559,20179953,16501887,20686692,20718862 1298659,1559154,1598720,1300347,1300247 58 CR541796,J00068,NG_006672,AF182035,AL160004,CH471098,M20543,AK096902,AK300697,AL598491,AY280960,BC012597,BX648545,CR536516,NM_001100 CAG38754,CAG46595,AAB59376,P68133,Q7Z7J6,ABM83875,ABM87196,NP_001091,AAF02694,CAI19050,CAI19051,CAI19052,EAW69898,AAA60296,BAG53395,BAH13327,AAP37280,AAH12597 Hs.1288 ACTA|ASMA|CFTD|CFTD1|CFTDM|MPFD|NEM1|NEM2|NEM3 OTTHUMP00000037465|actin alpha 1|actin, alpha skeletal muscle|alpha skeletal muscle actin|alpha-actin-1 protein-coding 1348351 ACTA2 actin, alpha 2, smooth muscle, aorta The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1298662 19285011,19261809,17994018,17786474,17626241,16289162,16115228,16051665,15862967,15588509,15555551,15489334,15342556,15164054,12477932,12119014,11812134,11707283,11580270,11037796,10628374,10341211,9546431,9512352,8138584,7780165,6725286,6330528,3842206,2701935,2612915,2398629,2295650,2022339,1969628,1939373,1555776,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,14530271,20694011,20381122,14627618,15032605,16385451,16548883,16573163,19409525,19639654,19654303,19683985,19745835,19788615,20128380,20237496,20689142,20734336,19913121,20628086 1298662 59 NM_001141945,NG_011541,AL157394,CH471066,D00618,K01741,K01742,K01743,K01744,K01745,K01746,K01747,M33216,AK300664,AK313294,AY692464,BC017554,BC093052,BP379410,NM_001613,BQ029841,CR536518,CR590615,CR591183,CR592949,CR597033,CR619420,CR621459,CR622200,DC304647,DC354672,DC385559,J05192,X13839,GU143396 NP_001604,NP_001135417,CAI13864,CAI13865,EAW50153,EAW50154,EAW50155,BAA00492,AAA51586,AAA60560,BAG62350,BAG36101,AAW29811,AAH17554,AAH93052,CAG38756,AAA51577,CAA32064,P62736,Q13707,Q5T9N7,ABM83317,ABM86532,ACZ58370 Hs.500483 AAT6|ACTSA actin, aortic smooth muscle|alpha 2 actin|alpha-actin-2|alpha-cardiac actin|cell growth-inhibiting gene 46 protein|growth-inhibiting gene 46 protein-coding 735801 ACTB actin, beta This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq] 1298665,1300347 20308691,18478542,12082080,17502619,17342765,6202424,16130169,19377461,10966108,19538885,19475567,19451231,19309309,18533937,18364388,18261463,17939680,17651734,17548472,17373842,17181997,16824795,16762366,16685646,16549430,16536728,16375898,16289162,16210567,16189514,16148048,16146415,16021519,15952740,15940343,15897890,15862967,15711563,15673434,15592455,15574586,15556561,15555571,15527767,15489334,15231748,15111311,15101111,15009185,15009096,14966270,14760703,14702039,14634002,14623863,14592989,12963728,12853948,12704194,12673016,12670476,12665801,12591166,12547197,12522145,12477932,12470643,12456645,12435603,12388067,12080081,12062430,12029088,12009869,11983702,11964161,11955010,11950878,11950601,11940582,11937625,11854414,11846445,11832213,11812134,11790298,11787062,11721045,11709093,11707406,11696420,11691822,11673475,11580269,11579089,11563969,11535601,11533442,11532003,11415434,11373276,11350761,11326315,11257002,11238447,11078522,11029056,11027608,10945978,10866806,10851017,10833443,10792467,10787407,10773068,10748209,10683146,10677499,10604479,10601251,10600384,10470109,10470015,10411937,10403844,10381382,10078207,10074138,10049817,9971772,9848710,9848085,9847074,9845365,9813091,9739080,9686908,9676236,9563518,9525888,9487115,9463375,9373149,9359436,9295142,9268132,9252372,9209005,9150887,9108196,9013719,8941379,8913639,8892894,8780737,8761950,8661406,8639502,8619402,8605189,8547189,8341682,8319567,8125298,8050815,7929073,7876308,7876306,7103951,6865942,6842590,6686106,6322116,6304075,3842206,3335520,2994062,2837653,2155660,1734024,1662743,1629950,1555776,1505215,435297,274701,10556093,16526095,9841925,7535922,1540415,8997639,1991513,1907279,15710247,15371598,14694110,16091223,15140972,14597672,9288906,11461920,11357136,11839798,12639940,15558034,15361876,15502823,15135048,12679033,15107502,15328537,17289661,17643375,18680169,19041431,19477923,19638415,19802004,20197409,20201613,20381070,18809673 1298665,1300347 60 NM_001101,NG_007992,AC006483,AY582799,AY970442,CH471144,CS081475,M10277,AK025375,AK058019,AK098751,AK130062,AK130157,AK222925,AK223032,AK223055,AK225414,AK301372,AK304552,AK308277,AK309997,AK316361,BC001301,BC002409,BC004251,BC008633,BC009636,BC012854,BC013380,BC013835,BC014401,BC014861,BC016045,BC023204,BC113036,CR589970,CR590046,CR590103,CR590210,CR590288,CR590411,CR590447,CR590683,CR590710,CR590978,CR591097,CR591224,CR591465,CR591660,CR591927,CR592262,CR592292,CR592305,CR592670,CR592795,CR593025,CR593072,CR593321,CR593592,CR593598,CR593734,CR593796,CR593813,CR593865,CR593896,CR593937,CR594038,CR594076,CR594099,CR594381,CR594884,CR594985,CR595182,CR595291,CR595306,CR595496,CR595695,CR595806,CR595832,CR596176,CR596290,CR596673,CR596787,CR597018,CR597103,CR597466,CR597659,CR598089,CR598272,CR598372,CR598425,CR598697,CR599179,CR599235,CR599455,CR599624,CR599635,CR599891,CR600186,CR600392,CR600532,CR600579,CR601026,CR601052,CR601086,CR601448,CR601524,CR601565,CR601870,CR602020,CR602174,CR602333,CR602339,CR602443,CR602445,CR602851,CR602874,CR602929,CR602945,CR603213,CR603387,CR603390,CR603726,CR604039,CR604921,CR605511,CR605646,CR605718,CR605790,CR605924,CR606116,CR606861,CR607015,CR607619,CR607692,CR607921,CR607957,CR608132,CR608206,CR608226,CR608297,CR608353,CR608667,CR608988,CR609007,CR609017,CR609136,CR609188,CR609310,CR609542,CR610012,CR610041,CR611051,CR611285,CR611384,CR611429,CR611696,CR611749,CR611763,CR612057,CR612491,CR612788,CR612812,CR612952,CR612992,CR613219,CR613422,CR613471,CR613926,CR614505,CR614558,CR614609,CR614723,CR614901,CR615388,CR615653,CR616113,CR616143,CR616407,CR616607,CR616639,CR616679,CR616681,CR616694,CR616918,CR616937,CR616986,CR617137,CR617259,CR617334,CR617617,CR618716,CR618940,CR619592,CR619607,CR619615,CR619662,CR619957,CR619970,CR620171,CR620197,CR620246,CR620258,CR621112,CR621117,CR621183,CR621189,CR621402,CR621548,CR621625,CR621635,CR622089,CR622223,CR622502,CR622603,CR622634,CR622700,CR622834,CR623430,CR624202,CR624251,CR624284,CR624351,CR624852,CR625087,CR625492,CR625602,CR626030,DQ407611,DQ471327,EF036500,EF095209,K00790,M28424,V00478,X00351,X63432,CR606701,FB571104,FB668235,GN346972 NP_001092,AAP22343,AAS79319,AAX82251,EAW87341,EAW87343,CAI95947,AAA51567,BAD96645,BAD96752,BAD96775,BAG65347,BAH14732,AAH01301,AAH02409,AAH04251,AAH08633,AAH12854,AAH13380,AAH14861,AAH16045,AAI13037,BAG62914,ABD66582,ABF01018,ABO65086,ABL01513,AAA51578,AAB16906,CAA23745,CAA25099,CAA45026,A0AUL6,P60709,Q1KLZ0,Q53G76,Q53G99,Q53GK6,Q562L3,Q562S0,Q9UE89,Q9UMN3,ABM85054,ABM81886,CAR95103,CAS92761,CAY56012 Hs.520640 PS1TP5BP1 PS1TP5-binding protein 1|actin, cytoplasmic 1|beta cytoskeletal actin protein-coding 1603843 ACTBL2 actin, beta-like 2 16824795,12477932 345651 NM_001017992,AC025470,AY970384,AY970433,AY970451,AY970452,CH471123,BC137470,BC137473,BX648504 NP_001017992,AAX82193,AAX82242,AAX82259,AAX82260,EAW54967,AAI37471,AAI37474,Q562R1 Hs.482167 ACT|DKFZp686D0972 actin-like protein|beta-actin-like protein 2|kappa-actin|similar to riken cdna 4732495g21 gene protein-coding 1349890 ACTBP1 actin, beta pseudogene 1 3837182 61 1353115 ACTBP10 actin, beta pseudogene 10 446207 2293113 ACTBP11 actin, beta pseudogene 11 644220 NG_007577,AC096542 pseudo 1344030 ACTBP2 actin, beta pseudogene 2 6571702,3837182 62 NG_003019,AC035147 pseudo 1353051 ACTBP3 actin, beta pseudogene 3 63 1350369 ACTBP4 actin, beta pseudogene 4 3837182 64 NG_003020,AC008695 pseudo 1348315 ACTBP5 actin, beta pseudogene 5 65 1345201 ACTBP6 actin, beta pseudogene 6 66 NG_008793,AC091175,M55014 H8-PSI-BETA-AC3 pseudo 1351732 ACTBP7 actin, beta pseudogene 7 1298666 6571702,6296793 1298666 67 NG_002724,AC090516,V00479 pseudo 1348995 ACTBP8 actin, beta pseudogene 8 1298666 20339536,9345905,6571702,6296793,1561114 1298666 68 NG_000840,AL139042,V00481 ACTBP2 pseudo 1346494 ACTBP9 actin, beta pseudogene 9 1298670 8941379 1298670 69 NG_003162,D50604,AC100843 pseudo 735789 ACTC1 actin, alpha, cardiac muscle 1 Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq] 1298672,1559158,1598724,1598727,1598729,1300348,1300248 20835239,8913639,8163527,8127865,7780165,6689196,6584914,6310553,6273789,6272269,3789022,1762945,1639426,1602151,1246600,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,18952430,18515362,18513529,18506004,18477565,18403758,16967490,16754800,16199542,15489334,15337165,14988412,14760703,14702039,14507647,12721663,12554937,12477932,12452439,12445881,12438125,12417592,12408964,12358155,12271120,12270929,12207032,12139639,12136158,12134071,12118075,12110694,12087068,12063253,12042308,12029088,12019562,12011427,11997265,11983702,11968018,11936879,10966831,10847344,10528865,10494087,10330430,9848085,16611632,17765196,9563954,17611253,17947298,19293840,12898519,16169070,16288873,19799913,19853701,19875404,20031618,20086309,20359594,20474083,20962418,19913121,20628086 1298672,1559158,1598724,1598727,1598729,1300348,1300248 70 NM_005159,NG_007553,AC087457,CH471125,J00070,J00071,J00072,J00073,AI222203,AK056592,AK129892,AK129902,AK290616,BC009978,CR541795,CR737466,DB504220 NP_005150,EAW92316,EAW92317,EAW92318,AAB59619,BAG51757,BAF83305,AAH09978,CAG46594,P68032,ABM84022,ABM87368 Hs.118127 ACTC|ASD5|CMD1R|CMH11|LVNC4 actin alpha cardiac 1|actin, alpha cardiac muscle 1|alpha-cardiac actin protein-coding 1312061 ACTG1 actin, gamma 1 Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in nonmuscle cells. [provided by RefSeq] 1331525 16189514,16130169,19548389,19110265,19008859,18804074,17914456,17722883,17693642,17285762,17220478,16901892,16824795,16773128,16690605,16569662,16365169,16236267,16179592,16169070,15759055,15618548,15489334,15231748,15163409,15009185,14760703,14684684,13680526,12665801,12612070,12519370,12477932,12470643,12388543,12372613,12052877,12029070,12009869,11941484,11733011,11709093,11474115,10970852,10958671,10925289,10903505,10848969,10781580,10713718,10662538,10074138,10049817,9971772,9808630,9362513,9245787,9199338,9153421,8941379,8892894,8761950,8661406,8630056,8617195,8612804,8416954,8399167,8228254,7849017,7820861,6893424,6865942,6686106,3737401,3510866,3472224,3335520,2837653,1602151,1331119,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,14597672,9288906,12481031,10772929,12874605,12835311,14565974,14576350,9535896,15746964,12665555,12082080,17088428,12679033,17643375,19477959,19638415,20381070 1331525 71 CR615214,CR615291,CR615292,CR615492,CR615511,CR615976,CR616006,CR616609,CR616940,CR616966,CR616969,CR616983,CR617232,CR617404,CR617643,CR617657,CR617867,CR617915,CR618617,CR618764,CR618978,CR619007,CR619201,CR619367,CR619574,CR619691,CR619914,CR619966,CR620121,CR620218,CR620630,CR620790,CR620806,CR620836,CR621190,CR621390,CR621646,CR621747,CR621813,CR621873,CR622024,CR622164,CR622438,CR622814,CR623020,CR623123,CR623145,CR623642,CR623959,CR624265,CR624832,CR624836,CR625300,CR625364,CR625920,CR626047,CR626452,CR626577,M16247,X04098,CR603085,CR603292,CR603639,CR603777,CR603981,CR604033,CR604282,CR604384,CR604519,CR604531,CR604825,CR605043,CR605191,CR605249,CR605598,CR605767,CR606117,CR606124,CR606241,CR606346,CR606439,CR607909,CR608395,CR608951,CR609271,CR609318,CR609401,CR609414,CR609723,CR609909,CR610111,CR610162,CR610496,CR610665,CR610691,CR610710,CR610785,CR610810,CR611108,CR611432,CR611433,CR611536,CR611607,CR611625,CR612114,CR612364,CR612408,CR612443,CR612488,CR612527,CR612577,CR612705,CR612862,CR612876,CR613019,CR613104,CR614104,CR614439,CR614730,CR614891,CR615028,CR615078,CR615212,DB455954,NM_001199954,NR_037688,NG_011433,AC139149,AY970363,AY970364,AY970365,AY970366,AY970367,NM_001614,AY970368,AY970369,AY970370,AY970371,AY970372,AY970374,AY970375,AY970376,AY970377,AY970380,AY970381,AY970382,AY970383,AY970402,AY970403,AY970404,AY970405,AY970406,AY970407,AY970408,AY970409,AY970410,AY970411,AY970412,AY970413,AY970414,AY970415,AY970416,AY970417,AY970418,AY970419,AY970420,AY970421,AY970441,AY970443,AY970444,AY970468,AY970469,AY970470,AY970471,AY970472,AY970473,AY970474,AY970475,AY970476,AY970477,AY970478,AY970483,AY970485,AY970486,AY970487,AY970488,AY970489,AY970490,AY970491,AY970492,AY970493,AY970494,AY970495,AY970496,AY970497,AY970498,AY970499,AY970500,AY970501,M19283,AK291937,AK301175,AK304637,BC000292,BC001920,BC004223,BC007442,BC009544,BC009848,BC010417,BC010999,BC012050,BC015005,BC015695,BC015779,BC017450,BC018774,BC018861,BC023548,BC039144,BC053572,BC063495,BT019856,CR590228,CR590320,CR590345,CR590376,CR590591,CR590603,CR590980,CR591079,CR591159,CR591211,CR591509,CR591533,CR591798,CR592121,CR592239,CR592652,CR592707,CR592730,CR592736,CR593879,CR593892,CR594098,CR594198,CR594416,CR594425,CR594480,CR594511,CR594886,CR594922,CR595093,CR595096,CR595246,CR595449,CR595688,CR595732,CR595791,CR595991,CR596062,CR596065,CR596102,CR596522,CR596575,CR596618,CR597169,CR597397,CR597456,CR597492,CR597515,CR597615,CR597730,CR597843,CR597885,CR598076,CR598244,CR598395,CR598534,CR598734,CR598828,CR598831,CR598898,CR598949,CR598971,CR599045,CR599592,CR599672,CR599678,CR599814,CR599830,CR599892,CR599978,CR600128,CR600154,CR600669,CR600687,CR600758,CR600832,CR601487,CR601583,CR601927,CR602100,CR602227,CR602295,CR602348,CR602399,CR602472,CR602480,CR602599,CR602869,HC250969,HC311158 AAX82295,AAA51580,CAA27723,P63261,Q562L5,Q562L6,Q562L9,Q562M3,Q562M5,Q562N0,Q562N2,Q562N8,Q562P0,Q562R8,Q562U1,Q562U2,Q562V5,Q562X9,Q562Y6,Q562Y8,Q562Z4,Q562Z6,Q562Z7,Q6PJ43,Q8WVW5,Q96DE1,Q96FU6,Q9BTD2,ABM82300,ABW03432,ACE87712,ACE87025,NP_001186883,NP_001605,AAX82173,AAX82174,AAX82175,AAX82176,AAX82177,AAX82178,AAX82179,AAX82180,AAX82181,AAX82182,AAX82183,AAX82184,AAX82185,AAX82186,AAX82189,AAX82190,AAX82191,AAX82192,AAX82211,AAX82212,AAX82213,AAX82214,AAX82215,AAX82216,AAX82217,AAX82218,AAX82219,AAX82220,AAX82221,AAX82222,AAX82223,AAX82224,AAX82225,AAX82226,AAX82227,AAX82228,AAX82229,AAX82230,AAX82250,AAX82252,AAX82253,AAX82274,AAX82275,AAX82276,AAX82277,AAX82278,AAX82279,AAX82280,AAX82281,AAX82282,AAX82283,AAX82284,AAX82289,AAX82291,AAX82292,AAX82293,AAX82294,AAX82296,AAX82297,AAX82298,AAX82299,AAX82300,AAX82301,AAX82302,AAX82303,AAX82304,AAX82305,AAX82306,AAX82307,AAA51579,BAF84626,BAG62762,BAG65416,AAH00292,AAH01920,AAH04223,AAH07442,AAH09544,AAH09848,AAH10417,AAH12050,AAH15005,AAH15695,AAH15779,AAH17450,AAH18774,AAH23548,AAH53572,AAV38659,AAH10999,CBJ05782,CBJ21234 Hs.514581 ACT|ACTG|DFNA20|DFNA26 actin, cytoplasmic 2|cytoskeletal gamma-actin|gamma-actin protein-coding 3207729 ACTG1P11 actin, gamma 1 pseudogene 11 9847074 414754 AC024183,NG_004636 pseudo 737318 ACTG2 actin, gamma 2, smooth muscle, enteric Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 2, encoded by this gene, is a smooth muscle actin found in enteric tissues. [provided by RefSeq] 1300349,1300249 17934296,17554369,17009076,16824795,15862967,15815621,15489334,14702039,12612070,12477932,12450213,10655297,8530021,7759108,2377475,1710027,1673027,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,12670476,14627618,19797053 1300349,1300249 72 NM_001615,AC073046,AY970439,AY970440,CH471053,D00654,AK124338,AK304523,AK310215,AK312955,BC012617,BC094877,BI850192,CR536515,CR541794,X16940,NM_001199893 NP_001606,AAX88909,AAX82248,AAX82249,EAW99712,EAW99713,BAA00546,BAG54029,BAG65327,BAG35794,AAH12617,AAH94877,CAG38753,CAG46593,CAA34814,P63267,Q562S2,ABM83873,ABM87194,NP_001186822 Hs.516105 ACT|ACTA3|ACTE|ACTL3|ACTSG OTTHUMP00000202509|actin, gamma 2|actin, gamma-enteric smooth muscle|actin-like protein|alpha-actin 3|alpha-actin-3|gamma-2-actin|smooth muscle gamma actin|smooth muscle gamma-actin protein-coding 1345992 ACTGP1 actin, gamma pseudogene 1 8941379 73 NG_001068,AC097103,D50658,M55082 ACT1GP1|ACTGP1|HY-psi-gamma-AC6 pseudo 1349704 ACTGP10 actin, gamma pseudogene 10 6592095 83 NG_003039,AL139396 ACTGP10|ACTL1|ACTP1 pseudo 1342717 ACTGP2 actin, gamma pseudogene 2 12815422,9847074 74 NG_004636,AC007742 ACTGP2|ACTL2 pseudo 1351647 ACTGP3 actin, gamma pseudogene 3 1298670 10978293,8941379,3748813 1298670 75 NG_000842,AF196978,AF196979,AL031665,D50657,X04224 ACTGP3|dJ545L17.4 pseudo 1349352 ACTGP4 actin, gamma pseudogene 4 1692956 76 1347270 ACTGP5 actin, gamma pseudogene 5 1692956,1692956 77,100462767 AL451010,NG_026958 ACTGP5 pseudo 1344031 ACTGP6 actin, gamma pseudogene 6 1692956 78 1354054 ACTGP7 actin, gamma pseudogene 7 1692956 79 1351015 ACTGP8 actin, gamma pseudogene 8 1692956 80 1342857 ACTGP9 actin, gamma pseudogene 9 8941379 82 NG_001069,AL035701,D50659 ACTGP9 pseudo 1348277 ACTL4 actin-like 4 84 1345012 ACTL5 actin-like 5 1406950 85 1603412 ACTL6A actin-like 6A This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq] 19279220,9845365,10966108,11256614,17081983,16189514,15647280,15489334,15196461,14966270,14743216,14702039,14503849,12963728,12837248,12665591,12477932,12437990,12353638,11839798,11734557,11509179,11342225,11266125,11230166,11078522,10611965,10380635,10078207,9710619,9373149,8125298,11784859,16169070,8895581,14966289,16387653,17643375,17207965,18809673,19720835,19759913 86 NM_004301,NM_177989,AC090425,AC126184,CH471052,AA256726,AB015907,AB060168,AB061315,AF041474,AK021756,NM_178042,AK098691,AK223212,AL136608,BC000949,BC001391,BC035463,BC036371,CR533529,CR594699,CR597700,CR602120,CR613774,CR621230 NP_829888,NP_004292,NP_817126,EAW78397,EAW78398,EAW78399,EAW78400,EAW78401,BAA74577,BAB87844,BAB87848,AAC94991,BAG51043,BAD96932,CAB66543,AAH00949,AAH01391,AAH36371,CAG38560,O96019,Q53FS0,Q6FI97,ACE87542,ACE86855,ADQ32750 Hs.435326 ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K|MGC5382 53 kDa BRG1-associated factor A|BAF complex 53 kDa subunit|BAF53|BRG1-associated factor 53A|INO80 complex subunit K|actin-like protein 6A|actin-related protein 4|actin-related protein Baf53a|arpNbeta|hArpN beta protein-coding 1351133 ACTL6B actin-like 6B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. [provided by RefSeq] 1580863 16169070,17207965,10380635,15489334,12853948,12690205,12565893,12477932,12437990,12368262,10611965,9847074,9799793,8889548,19913121,20628086 51412 NM_016188,AC099394,AF053356,CH236956,CH471091,AB015906,AF041475,AK314940,BC008582,BC020944,BM696009,CR594945,CR599365,CR621374 ADQ32375,NP_057272,AAP21874,AAC78795,EAL23823,EAW76502,EAW76503,EAW76504,EAW76505,BAA74576,AAD54678,BAG37446,AAH20944,O94805 Hs.259831 ACTL6|BAF53B 53 kDa BRG1-associated factor B|BRG1-associated factor 53B|actin-like 6|actin-like protein 6B|actin-related protein Baf53b|arpNalpha|hArpN alpha protein-coding 1312292 ACTL7A actin-like 7A The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq] 1580863 10373328,15489334,15164053,12695497,12571287,12477932,10611965,18720898 10881 NM_006687,AB284520,AF113526,AL359692,CH471105,AK314981,BC014610,HC006760 NP_006678,BAF41971,AAD44109,CAI40571,EAW59026,BAG37480,AAH14610,Q9Y615,CBH19186 Hs.123530 actin-like 7-alpha|actin-like protein 7A|actin-like-7-alpha protein-coding 1313810 ACTL7B actin-like 7B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq] 1580863 10373328,16344560,15489334,15164053,14702039,12907721,12477932,10611965 10880 NM_006686,AB284521,AF113527,AL359692,CH471105,AI150021,AK097670,AK313871,BC033789,DB021848,HC006762,HC044497 NP_006677,BAF41972,AAD44110,CAI40570,EAW59025,BAG53508,BAG36599,AAH33789,Q9Y614,CBH19187,CBH30578 Hs.534390 Tact1 actin-like 7-beta|actin-like protein 7B|actin-like-7-beta protein-coding 1602092 ACTL8 actin-like 8 14702039,12477932,18029348 81569 NM_030812,AL136529,CH471134,AK057339,BC028909,BI826094,CR611452,U20582 NP_110439,CAC15940,EAW94846,BAB71434,AAH28909,AAA62476,Q9H568 Hs.2149 CT57 OTTHUMP00000002612|actin like protein|actin-like protein 8|cancer/testis antigen 57 protein-coding 1602048 ACTL9 actin-like 9 12477932 284382 NM_178525,AC093230,AK292258,AY248901,BC024028,BC045752 NP_848620,BAF84947,AAP20052,AAH24028,AAH45752,Q8TC94 Hs.209206 HSD21|MGC33407 actin-like protein 9 protein-coding 736411 ACTN1 actinin, alpha 1 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1298684,1300350,1580863 10029173,19715605,12223541,12211109,11973348,11972044,11854440,11846417,11842093,11802708,11739652,11724819,11573089,11470434,11423549,11369769,11305911,11114196,11113628,11110697,10926853,10833443,10801846,10470015,10369880,10224105,7983147,10793131,15988023,16807302,18029348,1629252,19094982,18978946,18560563,18519573,18408146,18353764,17944866,17898132,17525629,17311919,17115122,17081983,16951376,16820411,16713569,16430917,16396496,16195373,16190873,16189514,16097034,15710624,15489334,15070900,14702039,12837758,12695497,12665801,12642359,12615977,12507293,12499399,12493766,12477932,12446711,10198040,9599291,9373149,9030526,8713105,8125298,7829101,7790378,7750553,2780298,2349951,2169343,1720388,8997639,1991513,10753915,2116421,12628297,9535896,12023963,14623081,14630798,15147863,15159419,15604093,16291744,17965186,19247474,19750481,20037648,20156433,20936779,20634891 1298684,1300350 87 CR620987,DC321454,DC372566,DQ496098,EU716325,FJ410030,M95178,X15804,X55187,NM_001130004,NM_001130005,AL117694,CH471061,AJ844628,AK098203,AK225782,AK294317,AK295099,AK298496,AK299362,BC003576,BC004984,BC015766,BC127124,BI494856,BT007207,BX248020,BX641076,CR609497,NM_001102,AK124378 ABF50047,ACE62922,ACJ24535,AAA51582,CAA33803,CAA38970,P12814,Q1HE25,Q5ZEZ4,Q86TX4,ABM81704,ABM86694,NP_001093,NP_001123476,NP_001123477,EAW80971,EAW80972,EAW80973,EAW80974,EAW80975,EAW80976,CAH59747,BAG53591,BAG57591,BAG58135,BAH12801,BAG61357,AAH03576,AAH15766,AAI27125,AAP35871,CAD62344 Hs.509765 FLJ40884|FLJ54432 F-actin cross-linking protein|actinin 1 smooth muscle|alpha-actinin 1|alpha-actinin cytoskeletal isoform|alpha-actinin-1|non-muscle alpha-actinin-1 protein-coding 1317671 ACTN2 actinin, alpha 2 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. [provided by RefSeq] 1298582,1559161,1559162,1559160,1580863 11699871,10427098,9501083,8104223,1339456,9817758,11846417,10656685,16807302,12356918,12809483,15841212,18029348,1629252,19150855,19086053,18687124,18513529,17110593,16713569,16120608,15843396,15737636,15489334,15072553,14565974,12860415,12837758,12812986,12477932,12446711,12435606,12358155,12140183,12006649,11842093,11724819,11440986,11389904,11309420,11171996,11114196,10984498,10931874,10861853,10812072,10788519,10548523,10391924,9952395,9728925,9030526,9009191,8609175,1505962,9675099,16169070,12559088,12815021,14622581,14630798,15604093,16902413,19696509,19815520,19932097,20022194,20201926,20379614,20398908,20474083,8615909,8665664,9481670,10373510,16712791 1298582,1559161,1559162,1559160 88 NM_001103,NG_009081,AJ249756,AJ249757,AJ249758,AJ249759,AJ249760,AJ249761,AJ249762,AJ249763,AJ249764,AJ249765,AJ249766,AJ249767,AJ249768,AJ249769,AJ249770,AJ249771,AJ249772,AJ249773,AJ249774,AJ249775,AJ249776,AL359185,AL359921,CH471098,M86804,AB209521,AK294906,AK297469,AK297618,AK297628,AK297886,AK315250,BC047901,BC051770,CB153006,CR593118,DC378038,M86406 NP_001094,CAB61269,CAH73201,CAI13778,EAW70064,EAW70065,AAA51584,BAD92758,BAH11921,BAH12587,BAH12632,BAH12634,BAH12687,BAG37672,AAH47901,AAH51770,AAA51583,P35609,Q59FD9 Hs.498178 CMD1AA F-actin cross-linking protein|alpha-actinin skeletal muscle|alpha-actinin-2 protein-coding 734136 ACTN3 actinin, alpha 3 Alpha-actinin is an actin-binding protein with multiple roles in different cell types. This gene expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments [provided by RefSeq] 1298582,1580863 12477932,11440986,11309420,10656685,10192379,9675099,8104223,11171996,15841212,1339456,16807302,1629252,19422651,19405879,19237423,19150855,19038838,19016781,18801770,18756004,18718976,18687124,18676575,18651373,18637739,18470530,18043716,17986906,17879893,17848603,17630210,17627799,17560787,17550918,17468578,17339648,17033684,16612741,15886711,15817725,15808860,15718405,15489334,15221860,12879365,12837758,12692149,19544227,19696509,19807896,20005538,20010124,20013558,20044471,20044476,20069311,20089531,20148371,20222007,20459474,19913121,20561285,20628086,20734058,20699471,20830656,20845221,20952631,20966103,21072744 1298582 89 NM_001104,AP002748,CH471076,AK125851,AK303044,AK313556,BC096323,BC099647,BC099648,BC099649,M86407,NG_013304 NP_001095,EAW74546,BAG64164,BAG36331,AAH96323,AAH99647,AAH99648,AAH99649,AAA51585,Q08043,Q4JCP9,Q4VAM3 Hs.654432 MGC117002|MGC117005 F-actin cross-linking protein|OTTHUMP00000219049|OTTHUMP00000219054|actinin alpha 3|alpha-actinin skeletal muscle|alpha-actinin-3 protein-coding 735302 ACTN4 actinin, alpha 4 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq] 1580863,1598731,1300349 12411747,8104223,15841212,9508771,15048094,11948184,16807302,18029348,15619032,1629252,19357256,19151661,19142020,18765526,18726620,18552466,18436095,18362906,18215660,18180332,18164029,17968527,17901210,17873890,17438131,17018644,16980305,16951376,16713569,16396496,16344560,16251236,16189514,15780077,15772161,15592455,15588985,15493875,15489334,15152255,15070900,12960352,12837758,12617336,12477932,12093915,12042308,11882289,11739652,11733011,11724819,11382784,11358829,11160423,10915794,10753915,10700177,10673389,10656685,9461087,2116421,1602151,10556093,11707406,14630798,16204054,16944923,17289661,19447967,19666657,19672209,19913389,19920151,19956976,20037648,20156433,20197409,20201926,20819441,15342556,16341674,20936779,19913121,20628086,20519146 1598731,1300349 81 NM_004924,NG_007082,AC008649,AC022144,CH471126,AA478431,AK299955,AK304554,D89980,DQ431186,U48734,AK309361,AK309363,AK309364,AU118403,BC005033,BC015620,BX647098,CR596416,CR621299,GU987085,AA847056,BM841805,BP332596 NP_004915,EAW56809,EAW56810,EAW56811,BAG61782,BAA24447,ABD96103,AAC17470,O43707,Q96BG6,ABM84365,ABM87776,BAG65349,AAH05033,AAH15620,ADG03678 Hs.270291,Hs.712632 ACTININ-4|DKFZp686K23158|FSGS|FSGS1 F-actin cross-linking protein|actinin alpha 4|actinin alpha4 isoform|alpha-actinin-4|non-muscle alpha-actinin 4 protein-coding 1315176 ACTR10 actin-related protein 10 homolog (S. cerevisiae) 1580863 16712791,16341674,15489334,14702039,12857853,12477932,9373149,8125298 55860 NM_018477,AL121579,AL132989,CH471061,AF220190,AK000544,AK022248,AK022534,AK222624,AK222702,AK315537,BC005208,BC011997,BM750953,BX161491,BX248282,CB135721,CR592445,CR595103,CR595382,CR599113,CR600466,CR601293,CR602344,CR605561,CR606184,CR608130,CR613415,CR613652,CR614724,CR616561,CR617931,CR621042,CR621866,CR623992,CR626759 NP_060947,EAW80714,AAF67655,BAA91243,BAB14083,BAD96344,BAD96422,BAG37916,AAH05208,AAH11997,CAD61940,CAD62610,Q05DQ7,Q53H79,Q53HF6,Q86SY7,Q86TY2,Q9NZ32,ABM82220,ABM85404 Hs.509451 ACTR11|Arp11|HARP11 actin-related protein 10|actin-related protein 11 protein-coding 1315973 ACTR1A ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq] 1528266,7696711,18303113,16381901,15489336,15489334,15164054,14702039,12871323,12477932,11461920,11256614,11076863,10671518,10671377,10607828,10504299,10196146,10074429,9499420,8991093,7878030,7518465,1356230,11357136,11483508,11076968,12221128,12852856,16462731,7790358 10121 AAB23391 NM_005736,NG_011901,AL121928,CH471066,AK096085,AK297362,AK297620,AK302072,AK312506,BC000693,BC026016,CR598823,CR600058,CR602189,CR603093,CR610318,CR615015,CR623554,CR623924,CR624758,DC384284,X82206,Z14978 NP_005727,CAC08404,EAW49685,EAW49686,EAW49687,EAW49688,BAG59809,BAG59996,BAG63461,BAG35407,AAH00693,AAH26016,CAA57690,CAA78701,P61163,AAB23391,CAL38013,ABM83615,ABM86860 Hs.153961 ARP1|CTRN1|FLJ52695|FLJ52800|FLJ55002 actin-RPV|alpha-centractin|centractin|centrosome-associated actin homolog protein-coding 1316546 ACTR1B ARP1 actin-related protein 1 homolog B, centractin beta (yeast) This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins are of equal length and share 90% amino acid identity. They are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq] 1580863 12857853,7696711,17619203,15815621,15489334,12477932,11256614,10343100,16169070,19996280 10120 NM_005735,AC017099,CH471127,BC004374,BC006372,BC010090,BC025274,CR611704,X82207,X82208 NP_005726,AAY24280,EAX01923,EAX01924,EAX01925,EAX01926,EAX01927,EAX01928,AAH04374,AAH06372,AAH10090,CAA57691,CAA57692,P42025,Q13841,ABM84364,ABM87747 Hs.98791 ARP1B|CTRN2|PC3 actin-related protein 1B|beta-centractin|centractin beta protein-coding 1321952 ACTR2 ARP2 actin-related protein 2 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 631743 15834156,19641626,19913427,20404198,17353931,9230079,19286135,19262673,18720401,18516090,17501982,17459058,17085436,16638851,16403731,16253999,16004967,15741236,15489334,15469433,15385624,15247266,15242766,15146197,12872157,12791263,12672817,12534372,12515716,12477932,12473693,12468383,12464680,12429845,12200375,12176354,12036877,12019562,11741539,11721045,11706047,11146629,11052943,11018051,10781580,10563804,10524632,10421578,10381382,9889097,9359840,9210376,9000076,10880444 631743 10097 NM_005722,AC007318,CH471053,AF006082,AK295157,AK301634,AK315205,AL049356,BC014546,BC036253,BI670123,BQ425220,BQ684301,BU184246,BX491447,BX649080,CN291246,CR593126,DC404298,W15444,NM_001005386 NP_001005386,NP_005713,EAW99908,EAW99909,EAW99910,EAW99911,EAW99912,EAW99913,EAW99914,AAB64187,BAG58171,BAG63117,BAG37642,AAH14546,AAH36253,P61160,Q8IY98,ACE87419,ACE86733 Hs.643727,Hs.727556 ARP2 actin-like protein 2|actin-related protein 2 protein-coding 736322 ACTR3 ARP3 actin-related protein 3 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. [provided by RefSeq] 631743 20974812,17353931,9230079,19286135,19262673,18516090,17576929,17524364,17501982,17085436,16403731,16253999,16004967,15741236,15635413,15592455,15489334,15469433,15385624,15279900,15247266,15242766,12872157,12829704,12791263,12672817,12477932,12473693,12464680,12429845,12200375,12176742,10381382,9889097,9860974,9359840,9210376,9000076,12534372,10421578,12176354,12036877,11882288,11790298,11741539,11721045,11146629,11052943,11018051,10806390,10781580,10563804,10524632,19913427,20404198 631743 10096 NM_005721,AC110769,CH471103,AB209353,AF006083,AF127773,AK300030,AK300224,AK302152,AK302359,AK303988,AK312659,AK316213,AK316396,AL832773,BC044590 NP_005712,AAX93226,EAW95179,EAW95180,EAW95181,EAW95182,BAD92590,AAB64188,AAD51904,BAG61841,BAG61992,BAG63523,BAG63684,BAG64905,BAG35542,BAH14584,BAH14767,AAH44590,P61158,Q53QM2,Q59FV6 Hs.433512 ARP3 actin-like protein 3|actin-related protein 3|actin-related protein 3 homolog (yeast) protein-coding 1603621 ACTR3B ARP3 actin-related protein 3 homolog B (yeast) 17353931,14702039,14651955,12853948,12477932,11162478,10806390,10047519,16169070,20379614 57180 AK315534,AK316078,BC008682,BC015207,AK294292,CR592677,CR603830,CR604196,CR615185,DB570472,NM_020445,NM_001040135,AC072057,AC092180,CH471209,AB209174,AF023453,AF086920,AK001198 BAG57575,BAG37914,BAH14449,AAH08682,AAH15207,Q59GD5,Q75LP0,Q96BT2,Q9P1U1,ABM85680,ABW03746,NP_065178,NP_001035225,AAS07430,EAW80446,BAD92411,AAC98904,AAP97150,BAG50867 Hs.647117 ARP11|ARP3BETA|DKFZp686O24114 ARP3-beta|OTTHUMP00000200055|actin-like protein 3B|actin-related protein 3-beta|actin-related protein 3B|actin-related protein ARP4|actin-related protein Arp11 protein-coding 3004191 ACTR3BP1 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 1 9847074 643050 AC134879,NG_005799 pseudo 4108510 ACTR3BP2 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 440888 AC128677,AY026351,CH471366,NR_027714 AAK31777,EAW50837,EAW50838,Q9BWW1 FKSG73 pseudo 4108537 ACTR3BP3 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 3 647156 AC138915,CH471357,NG_005800 Q9BWW0,EAW51523 pseudo 4109091 ACTR3BP4 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 4 9847074 777774 AC083826,NG_005802 pseudo 4109585 ACTR3BP5 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 5 399746 AL133173,AY026352,NG_005798 AAK31778 FKSG74 pseudo 4109092 ACTR3BP6 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 6 644773 AP000546,AP000547,AY026350,NG_005801 AAK31776,Q9BWW2 pseudo 2923209 ACTR3C ARP3 actin-related protein 3 homolog C (yeast) 11162478,14651955,16344560,8889548 653857 AB039791,AC005586,AC006008,AK130039,BM674900,BX640643,DA868104,DN992136,DR004860,NM_001164458,NM_001164459 BAB21501,BAC85283,CAI56711,NP_001157930,NP_001157931,Q6ZP42,Q9C0K3 Hs.664579 ARP11 actin-related Arp11|actin-related protein 11|actin-related protein 3C protein-coding 1343118 ACTR3P1 ARP3 actin-related protein 3 homolog (yeast) pseudogene 1 446208,100288580 AE000521,AE000658,NG_023029 pseudo 4108897 ACTR3P2 ARP3 actin-related protein 3 homolog (yeast) pseudogene 2 100129013 AL353587,NG_022669 pseudo 4109173 ACTR3P3 ARP3 actin-related protein 3 homolog (yeast) pseudogene 3 100128020 AC093008,NG_022261 pseudo 1317453 ACTR5 ARP5 actin-related protein 5 homolog (yeast) 19014934,16230350,15489334,14702039,12601173,12477932,11780052,17643375,20197409 79913 NM_024855,AL133519,CH471077,AK022847,AY211911,BC001324,BC006162,BC038402,BF529768 NP_079131,CAD37358,EAW76010,EAW76011,BAB14270,AAO65164,AAH01324,AAH06162,AAH38402,Q9H9F9 Hs.371585 Arp5|FLJ12785|INO80M INO80 complex subunit M|actin-related protein 5|hARP5|sarcoma antigen NY-SAR-16 protein-coding 1312146 ACTR6 ARP6 actin-related protein 6 homolog (yeast) 737633,1580863 16487625,15489334,14702039,12477932,11368909,9373149,8125298,17643375,17207965 737633 64431 NM_022496,AC010203,AC026110,CH471054,AB038229,AF161399,AF175226,AF212251,AK023495,AK023684,AK124075,AK222959,AK296991,BC015107,BC042997,BC050679,CR590822,CR592230,CR596881,CR598015,CR609733,CR614672,CR615608,CR618558,CR622632 NP_071941,EAW97623,EAW97624,EAW97625,EAW97626,EAW97627,BAB20762,AAF28959,AAQ13651,AAK14934,BAB14588,BAB14640,BAG53999,BAD96679,BAG59531,AAH15107,Q53GH2,Q7Z4D2,Q9GZN1,Q9P0A0,ADQ31805 Hs.115088 ARP6|CDA12|FLJ13433|HSPC281|MSTP136|hARP6|hARPX actin-related protein 6 protein-coding 1323563 ACTR8 ARP8 actin-related protein 8 homolog (yeast) 1580863 21048031,18163988,17081983,16230350,15188402,14702039,12477932,20971067,16344560,17643375 93973 NM_022899,AC012467,CH471055,AK022996,AK026232,AK094507,BC032744,BU070174,BX354684,DA453867 NP_075050,EAW65300,BAB14352,BAB15402,BAG52879,AAH32744,Q8N566,Q9H981 Hs.412186 ARP8|FLJ12934|FLJ22579|INO80N INO80 complex subunit N|OTTHUMP00000213228|actin-related protein 8 protein-coding 1605289 ACTRT1 actin-related protein T1 15772651,15489334,12477932,12243744 139741 NM_138289,CH471107,Z74696,AF440739,AY251532,BC014597,DB452140,DB510229,NG_021358 NP_612146,EAX11839,CAI42428,AAM00432,AAP20055,AAH14597,Q8TDG2,ACE87525,ACE86838 Hs.680125 AIP1|ARIP1|ARP-T1|ARPT1|HSD27|KIAA0705|MGC26590 actin-related protein T1 protein-coding 1606455 ACTRT2 actin-related protein T2 The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq] 18029348,15489334,15342556,12477932,12243744,11750065 140625 NM_080431,AL356984,CH471248,AB057364,AF440740,AK058153,AK314500,AW016204,BC029499,BI825639,BP370015,HC006780 CAH72587,NP_536356,EAW61142,BAB85862,AAM00433,BAB71690,BAG37100,AAH29499,Q8TDY3,Q96LK1,ABM82186,ABM85372,CBH19196 Hs.236635 ARPM2|ARPT2|Arp-T2|FLJ25424|HARPM2 actin-related protein M2|actin-related protein T2|actin-related protein hArpM2 protein-coding 1344480 ACVR1 activin A receptor, type I Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq] 1559169,2313802,1580863,2317217 19929436,18292470,18234825,18019378,17572636,17496924,17351709,16344560,15761153,15489334,12651901,12477932,12032389,11969340,11266516,11069203,10652350,10583507,10085121,9872992,9748228,9501322,9267036,9136927,8702914,8622651,8612709,8599089,8397373,8389764,8248234,8006002,7890683,7791754,20463014,10631143,10665670,12065756,8242742,12702211,18436533,9884026,16642017,19574343,19543505,19506109,19400542,19330033,19300893,19299629,19148527,19085907,19064572,19028479,18952055,18854405,18830232,18684712,19335617,19736306,19796185,19896889,19996292,20011542,20634197,20677014,20716560,20734064 1559169,2313802,2317217 90 HI574330,HM015588,BC036748,CR623544,DA796090,L02911,Z22534,NM_001111067,NM_001105,NG_008004,A38807,AC013731,AC019186,CH471058,AK297765,AK313630,BC033867,HB448223 ADL14509,CBX47654,AAA36614,CAA80256,Q04771,Q53SF4,Q53SV1,AAH33867,NP_001104537,NP_001096,CAA02405,AAY24272,AAY15094,EAX11438,EAX11439,EAX11440,EAX11441,EAX11442,EAX11443,BAG60113,CAZ91465 Hs.470316 ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI OTTHUMP00000204604|OTTHUMP00000204626|TGF-B superfamily receptor type I|activin A receptor, type II-like kinase 2|activin receptor type I|activin receptor type-1|activin receptor-like kinase 2|hydroxyalkyl-protein kinase|serine/threonine-protein kinase receptor R1 protein-coding 1349804 ACVR1B activin A receptor, type IB Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed. [provided by RefSeq] 1559169,1598735,1580888,1580863,2317217 12919325,20226172,20347265,20379614,7890768,12065756,12665502,8622651,14517293,18039968,16720724,11117535,9884026,9032295,8397373,19035567,17906079,15489334,15459392,15196700,15123686,12651901,12639945,12477932,12364468,12112843,12032389,12023024,11969340,11909953,11279102,11278302,11266516,11248065,10652306,9892009,9501322,8612709,8196624,8058741,9202237,9738003,7791754,11356828,20734064,20819778,21063444 1559169,1598735,1580888,2317217 91 NG_022926,NM_020327,NM_020328,AC025259,CH471111,L31848,AK299120,AK299496,AL117643,BC000254,BC034008,BC040531,BT007072,L10125,L10126,U14722,Z22536,NM_004302 NP_004293,NP_064732,NP_064733,EAW58216,EAW58217,EAW58218,AAA53349,AAA53350,AAA53351,BAH12954,BAH13051,AAH00254,AAH40531,AAP35735,AAA60555,AAA60556,AAA50246,CAA80258,P36896,ACE87427,ACE86741 Hs.438918 ACTRIB|ACVRLK4|ALK4|SKR2 activin A receptor, type II-like kinase 4|activin receptor type-1B|activin receptor-like kinase 4|serine/threonine-protein kinase receptor R2 protein-coding 734123 ACVR1C activin A receptor, type IC ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM] 1580863 12063393,15531507,19275893,18951876,18784254,18480259,16603637,15815621,15489334,15196700,15150278,15107418,12606401,12477932,11485994,20734064 130399 NM_145259,NM_001111031,NM_001111032,NM_001111033,AC019186,AC079750,CH471058,CS173113,CS173115,CS173117,AF525679,AF525680,AF525681,AW014016,AY127050,BC022530,BC030101,BI601014 NP_660302,NP_001104501,NP_001104502,NP_001104503,AAY15093,AAX88951,EAX11444,EAX11445,EAX11446,CAJ33702,CAJ33703,CAJ33704,AAP21993,AAP21994,AAP21995,AAM93495,AAH22530,Q53SF5,Q8NER5,ABM86496,ABW03656 Hs.562901 ACVRLK7|ALK7 ACTR-IC|ALK-7|activin receptor type IC|activin receptor type-1C|activin receptor-like kinase 7 1643253 BW133_H protein-coding 731811 ACVR2A activin A receptor, type IIA This gene encodes activin A type II receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. [provided by RefSeq] 1559169,2301061,2301065,1580863,2317217,2325239 16982625,19503063,19574343,20011542,20197483,20200332,20379614,20424473,20339536,14691305,12667445,12651901,12477932,12385827,12213882,12135884,12032389,11969340,11882656,11266516,11069203,10702675,10681527,10638976,10504300,10323406,10187774,9872992,9748228,8702914,8640777,8622651,8612709,8243335,8242742,1646080,1311955,9892009,9202237,9032295,12665502,10746731,7890768,18436533,14738881,1314589,17356069,19308291,19126782,19064572,18941508,18781190,18001154,17472960,17456004,17258738,16672363,16380996,16337854,15815621,15621726,15489334,15451561,14988818,20634197,20734064 1559169,2301061,2301065,2317217,2325239 92 NM_001616,CH471058,AK301629,AK314124,BC067416,BC067417,BC067418,BC069707,BX645435,D31770,M93415,X62381,X63128,AC009480 NP_001607,AAX93050,EAX11561,EAX11562,BAG63114,BAG36815,AAH67417,AAH67418,AAH69707,BAA06548,AAA35504,CAA44245,CAA44839,P27037 Hs.470174 ACTRII|ACVR2 OTTHUMP00000197918|activin receptor iia|activin receptor type-2A protein-coding 737613 ACVR2B activin A receptor, type IIB Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq] 1559169,1300351,1580863 9748228,9621519,9202237,8702914,8612709,9872992,10504300,15304227,8622651,14517293,15621726,18436533,9916847,12493773,14738881,8161782,17356069,17893364,17347381,15489334,15451561,15342556,15123686,12782414,12651901,12477932,11969340,11882656,11459935,11306176,11279102,11278302,11266516,10766733,10702675,10391213,10212081,15064755,16845371,19453261,20424473,20466801,20734064 1559169,1300351 93 NM_001106,NG_011791,AB008681,AF060200,AF060201,AF060202,AP006191,CH471055,AB209449,AF075005,BC096243,BC096244,BC096245,BC099642,BP352716,X77533 NP_001097,BAA24180,AAC64515,EAW64536,BAD92686,AAC28458,AAH96243,AAH96244,AAH96245,AAH99642,CAA54671,Q13705,Q4VAU9,Q59FL1,Q71UM3 Hs.174273 ACTRIIB|ActR-IIB|MGC116908 activin receptor type-2B protein-coding 737253 ACVRL1 activin A receptor type II-like 1 This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq] 1601116,1559169,1580863,1598736,1300352,1601117,1300250 11266516,16049014,18974388,19357124,19506300,19592636,19903896,20056902,20065063,20346360,20424473,20124460,16752392,12453878,17068149,12393874,14684682,15702480,18029348,19508727,19494318,19366699,19270816,19051722,18972447,18949376,18855162,18829861,18673552,18607909,18543223,18498373,18333754,18312453,18309101,18285823,18187665,18159113,18065769,17786384,17620321,17388964,17311849,17224686,12065756,8242742,20414677,17219009,11279102,11278302,11170071,10767348,10716993,10694922,10187774,9651680,9245985,8928814,8717052,8640225,8397373,16941203,16861286,16785228,16776339,16705692,16542389,16540754,16525724,16470589,16429404,16179574,15951295,15880681,15712271,15712270,15687131,15611116,15517393,15489334,15024723,14702039,14580334,12920067,12477932,12114496,11484689,11356828,20587022,20501893,19913121,20628086,20734064 1601116,1559169,1598736,1300352,1601117,1300250 94 NM_000020,NM_001077401,NG_009549,A38805,AC025259,CH471111,U77707,U77708,U77709,U77710,U77711,U77712,U77713,AK056725,AK298493,AK300619,AK303331,BC042637,CR596233,CR599504,DN999570,L17075,Z22533,HM161905,HM161906 NP_000011,NP_001070869,CAA02404,EAW58211,EAW58212,EAW58213,EAW58214,AAB61900,BAG60701,BAG62312,BAG64396,AAH42637,AAA16160,CAA80255,P37023,ADJ79922,ADJ79923 Hs.591026 ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I TGF-B superfamily receptor type I|activin A receptor, type II-like kinase 1|activin receptor-like kinase 1|serine/threonine-protein kinase receptor R3 protein-coding 1351880 ACY1 aminoacylase 1 Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. ACY1 has been assigned to chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and ACY1 is the first member of a new family of zinc-binding enzymes. [provided by RefSeq] 1298689,1580863 1707030,8394326,18341290,17045186,16465618,16274666,16189514,15489334,12933810,12477932,8357837,6948533,2542383,11154063,11250542,12548635,15028279,15927344,15953868,16313167,16404153,16889417,16962797,17516490,17562838,20480396,2745715,373141,6248297,6781469,6803586,7974002 1298689 95 NM_000666,NG_012036,AC115284,CH471055,AK298274,BC000545,BC003023,BC014112,CR594696,CR597055,CR604769,CR607052,CR608049,CR615795,CR619739,CR622490,CR622719,D14524,D16307,L07548,BE269642,CD014023,CD014026,CD014027,NM_001198895,NM_001198896,NM_001198897,NM_001198898 NP_000657,EAW65181,BAG60535,AAH00545,AAH03023,AAH14112,BAA03397,BAA03814,AAA02852,Q03154,ABM82834,ABM87833,NP_001185824,NP_001185825,NP_001185826,NP_001185827 Hs.334707 ACY-1|ACY1D|ACYLASE ACY-1|N-acyl-L-amino-acid amidohydrolase|OTTHUMP00000212459|OTTHUMP00000212462|OTTHUMP00000212463|OTTHUMP00000212464|OTTHUMP00000220363|acylase|aminoacylase-1 protein-coding 1353319 ACY1L aminoacylase 1-like 96 1352202 ACY3 aspartoacylase (aminocyclase) 3 1580863 15489334,14656720,12477932,19486448,17207965 91703 NM_080658,AP003385,CH471076,AF359506,AY032593,AY040761,AY169233,BC008689 NP_542389,EAW74663,EAW74664,AAM00248,AAK51135,AAK94770,AAN87896,AAH08689,Q8TDM2,Q96HD9,ADQ32340 Hs.126265 ACY-3|HCBP1|MGC9740 acylase III|aminoacylase-3|aspartoacylase-2|hepatitis C virus core-binding protein 1 protein-coding 1351089 ACYP1 acylphosphatase 1, erythrocyte (common) type Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase, on the basis of their tissue localization. This gene encodes the erythrocyte acylphosphatase isoenzyme. Alternatively spliced transcript variants that encode different proteins were identified through data analysis. [provided by RefSeq] 1298556,1580863 7796909,3026468,15489334,14992377,12508121,12477932,12409302,9730610,2169259,1645713 1298556 97 NM_001107,NM_203488,AC007055,AL049780,CH471061,AK312101,AW390293,BC035568,BE467248,BG614847,BX104912,X84194 NP_001098,NP_982355,AAD31937,EAW81216,BAG35037,AAH35568,CAA58987,P07311 Hs.18573 ACYPE acylphosphatase, erythrocyte isozyme|acylphosphatase, organ-common type isozyme|acylphosphatase-1|acylphosphate phosphohydrolase 1 protein-coding 1350765 ACYP2 acylphosphatase 2, muscle type Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. [provided by RefSeq] 1580863 19851296,20198315,20379614,8268218,18809411,18649358,16084386,15670608,15489334,12477932,12409302,11799398,10542090,9395090,9070879,7796909,7487897,6100723,3026468,20877624 98 NM_138448,AC008280,AC073879,AC092622,AC108929,CH471053,AK307096,BC012290,BF739886,CA308062,X84195 NP_612457,AAY14721,AAX88874,EAX00152,EAX00153,EAX00154,EAX00155,EAX00156,EAX00157,AAH12290,CAA58988,P14621,Q4ZFV7,Q53TK7 Hs.516173,Hs.642983 ACYM|ACYP OTTHUMP00000200601|OTTHUMP00000200602|acylphosphatase, muscle type isozyme|acylphosphatase-2|acylphosphate phosphohydrolase 2 protein-coding 1344501 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) 1345672 AD5 Alzheimer disease 5 9333264,10712207 8081 1603401 AD7C-NTP neuronal thread protein AD7c-NTP This gene is unusual in that its coding sequence is derived almost entirely from a cluster of different Alu repeat sequences. However, the mRNA and the encoded protein have been shown to be expressed in neurons, and overexpressed in brains with Alzheimer's disease. In vitro studies also demonstrated that abnormal expression of this gene promoted neuritic sprouting and cell death, associated with dementia in Alzheimer's disease. 9399956,15652152,15346770,11897561 27308 O60448 AF010144 AAC08737,O60448 AD7CNTP protein-coding 736149 ADA adenosine deaminase This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq] 1304201,1580863,1300048,2313538,2313539,2313540,1300251,1300353,1624289,1624292,1624286,1624305,1624309,1624290 20347569,20651391,20581655,3182793,8452534,9361033,11999881,16670267,7594462,14684150,7599635,8894685,11772392,7759315,19470168,19237091,19172437,19086053,19019667,18794722,18768081,18680557,18673094,18597230,18562134,18560234,18357489,18302529,18222177,18218852,17696452,17536804,17397971,17340203,17287605,17243920,17181544,16970880,16886895,16754522,16724628,16410722,16224193,16221767,16133068,15983379,15761857,15632314,15489334,15281007,15257174,15063762,15016824,14726805,12935677,1856451,1807098,1696926,1284479,11278278,10899322,9330696,9103436,20548128,19521708,12809673,12774669,12712614,12477932,12381379,12150791,12113294,12104097,11901152,11780052,11534018,11354825,11125033,11121182,10506947,9674425,9414266,9373149,9299436,9247966,9225964,9154805,8589684,8299233,8242080,8227344,8125298,8031011,7570001,7371221,6688808,6546794,6526272,6208479,6198240,6090454,3839802,3839456,3838797,3560174,3348976,3028473,3010705,2783588,2770711,18029348,19026999,19628957,19633200,19668260,19703146,19789510,19845893,19901882,20147632,20174870,20180986,20306731,20392501,20414589,20480728,20522203,8101391,19913121,20453107,20554694,20590444,20615890,20628086,20872567,20805743,20943049 1304201,2313538,2313539,2313540,1300251,1300353,1624289,1624292,1624286,1624305,1624309,1624290 100 HH769637,HH769781,NG_007385,NM_000022,AL139352,CH471077,M13792,X02189,X02190,Z97053,AK123988,AK223397,AL832305,BC007678,BC040226,BI601734,CR590997,CR597186,CR597421,CR606425,CR607668,CR609012,CR609053,CR610127,CR611818,CR612145,CR615818,CR618876,CR619472,CR621286,CR622485,CR622953,CR623349,X02994 CBX85542,CBX85614,NP_000013,CAH73885,EAW75904,EAW75905,EAW75906,EAW75907,AAA78791,CAA26130,CAB09782,BAD97117,AAH07678,AAH40226,CAA26734,P00813,ABM83607,ABM86850 Hs.654536 adenosine aminohydrolase|adenosine deaminase protein-coding 1606972 ADAD1 adenosine deaminase domain containing 1 (testis-specific) 20549515,20553587,19302705,18311140,17558408,16344560,14702039,12477932,9541871,7543294,17554300,19523143 132612 NM_139243,NM_001159285,NM_001159295,AC022489,CH471056,AK057303,AK093297,BC040229,DB027040,DB040584,DB058857,DB059180,HC007332 NP_640336,NP_001152757,NP_001152767,EAX05228,EAX05229,EAX05230,EAX05231,EAX05232,EAX05233,EAX05234,BAB71416,BAC04125,AAH40229,Q96M93,ABM84128,ABM84129,ABM87529,ABM87530,CBH19471 Hs.518957 FLJ32741|Tenr OTTHUMP00000196373|OTTHUMP00000196374|adenosine deaminase domain-containing protein 1|testis nuclear RNA-binding protein protein-coding 1602291 ADAD2 adenosine deaminase domain containing 2 16344560,14702039,12477932,8889548 161931 NM_139174,NM_001145400,AC009123,CH471114,AF447586,AK093046,AK093523,AK131102,AK315171,BC033491,BU731201,DB036324 NP_631913,NP_001138872,EAW95491,EAW95492,EAW95493,EAW95494,AAM22869,BAC04032,BAC85152,BAG37613,AAH33491,Q6ZNJ3,Q8NCV1 Hs.8977 FLJ00337|TENRL adenosine deaminase domain-containing protein 2|testis nuclear RNA-binding protein-like protein-coding 1605272 ADAL adenosine deaminase-like 12477932 161823 NM_001012969,NM_001159280,AC009852,AC018924,CH471125,AK126583,AK298870,BC075857,BQ015642,BX647599,CA436653 NP_001012987,NP_001152752,EAW92598,EAW92599,BAG54348,BAG60990,AAH75857,Q6DHV7 Hs.533913 DKFZp313B2137|FLJ44620 adenosine deaminase-like protein protein-coding 1345474 ADAM1 ADAM metallopeptidase domain 1 (pseudogene) 9032439,16344560,10524237,11784061 8759 AC003029,Y09232,NR_036636,CA427398,DA031170 Hs.661708 ADAM1P|FTNAP|Ftna|PH-30a ADAM metallopeptidase domain 1 (fertilin alpha) pseudogene|a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene pseudo 735847 ADAM10 ADAM metallopeptidase domain 10 Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq] 2302204,1300252,1580863,1559151,2317976 9016778,8694785,18676862,12714508,11831872,18373975,12475894,19541935,19435795,19394555,19357285,19344981,19278423,19260824,19144697,19091752,18981120,18979631,18971959,18952609,18642355,18603587,18514661,18480749,18420943,18381078,18355445,18215140,18200054,18074395,17965014,17895248,17727679,17699774,17557115,17290285,17187903,16942750,16806063,16751190,16735514,16648485,16627989,16390331,16309826,16263699,16263114,16239146,16227584,15958533,15905513,15507448,15300588,15280425,15280379,15182369,14707550,14702039,14636066,14627705,12960155,12832423,12815056,12794186,12782344,12730960,12665519,12629514,12590602,12568494,12535668,12477932,12438920,12176995,12080182,11839628,11786905,11511685,11477090,10958785,10737800,10423016,9618175,9441766,9344679,9305925,7822279,7593158,11741929,20711474,20443867,20070888,10527948,19564338,19587294,19603142,19608551,19632330,19665015,19667218,19672558,19704010,19783906,19823572,19826051,19865098,20059578,20136654,20348102,20371803,20381196,20624979,20676056,20814017,19913121,20628086,20677014 2302204,1300252,1559151,2317976 102 NM_001110,AC018904,AC091046,CH471082,AF009615,AK023460,AK300472,BC055087,BC104659,BC126253,BC143935,BE934813,BX372217,CR621666,Z48579 NP_001101,EAW77539,EAW77540,EAW77541,AAC51766,BAG62190,AAI26254,CAA88463,A0AV88,O14672 Hs.578508 AD10|CD156c|HsT18717|MADM|kuz ADAM 10|CDw156|OTTHUMP00000165066|a disintegrin and metalloprotease domain 10|a disintegrin and metalloprotease domain 10|a disintegrin and metalloproteinase domain 10|disintegrin and metalloproteinase domain-containing protein 10|kuzbanian protein homolog|mammalian disintegrin-metalloprotease protein-coding 1316754 ADAM11 ADAM metallopeptidase domain 11 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene represents a candidate tumor supressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. [provided by RefSeq] 1580863 9693107,8252040,15203218,15146197,14759258,12477932,11545539,11076863,7956356,7593158,16169070 4185 AAB29191 AC005180,CH471178,D31872,AB009675,AK296512,BC144550,CD630831,CD630842,CN418442,D17390,NM_002390 EAW51578,EAW51579,EAW51580,BAA06670,BAA06671,BAA32352,BAG59144,BAA04213,AAB29191,O75078,AAI11917,NP_002381 Hs.6088 MDC ADAM 11|a disintegrin and metalloproteinase domain 11|disintegrin and metalloproteinase domain-containing protein 11 protein-coding 1317265 ADAM12 ADAM metallopeptidase domain 12 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene has two alternatively spliced transcripts: a shorter secreted form and a longer membrane-bound form. The shorter form is found to stimulate myogenesis. [provided by RefSeq] 1580863,1625347,1559174,2317976 7566181,19278423,19268722,19040574,19003798,18978109,18801731,18621736,18604515,18519826,18395873,18382998,18365756,18342566,18311789,18264967,18264948,18241035,18081311,17987603,17846126,17701664,17620406,17465398,17440933,16869727,16495931,16455653,16453284,16344560,16213489,9642263,9417060,15280379,20457602,16139919,15930294,15574885,15509542,15381692,15364951,15358598,15242759,14691998,12975309,12952982,12915587,12717386,12615925,12477932,12000744,12000741,11313349,11127814,11095942,10944520,10849447,10831617,10788519,20509156,20509157,20090292,20187159,11786904,15574124,16385451,19213876,19544290,19544357,19609547,19736612,19769962,19837132,20218926,20379614,20305677 1625347,1559174,2317976 8038 HC006764,NM_003474,NM_021641,AC022015,AC026226,AC063963,AL589787,AL691463,CH471066,AF023476,AF023477,AK127856,AK291629,AY358878,BC060804,CB960379,CR596848,CR600916,CR611528,CR616307,DA027173,DA863951,DR004947 CBH19188,NP_003465,NP_067673,CAI40681,CAI40682,CAI40683,EAW49205,EAW49206,EAW49207,EAW49208,EAW49209,AAC08702,AAC08703,BAF84318,AAQ89237,AAH60804,O43184,Q5JRP2 Hs.594537 MCMP|MCMPMltna|MLTN|MLTNA disintegrin and metalloproteinase domain-containing protein 12|meltrin-alpha protein-coding 1342889 ADAM13 a disintegrin and metalloproteinase domain 13 8753 1351482 ADAM14 a disintegrin and metalloproteinase domain 14 8752 733223 ADAM15 ADAM metallopeptidase domain 15 The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1559176,2325247 10531379,9516430,19487280,19253070,19207106,19054571,18695922,18434311,18387333,18296648,18281484,17937806,17575078,17416588,17080222,16894352,16756724,16303743,15756594,15618016,15489334,15384173,15358598,15263807,14707550,12897135,12858436,12777399,12615925,12477932,12243749,12091380,11882657,18774960,20189953,11840679,11839628,11741929,10842103,10828588,10652535,9914169,9039960,9016778,8889548,8617717,10527948,16189514,15280379,16374509,19550037,19718658,20213810,20851104 1559176,2325247 8751 NM_207197,NM_207194,NM_207196,NM_207195,NM_003815,NM_207191,AF314227,AL451085,AL691442,AB209157,AK000667,AK075498,AK295614,AK296925,AK297468,AK308172,AY518542,AY560593,AY560594,AY560595,AY560596,AY560597,AY560598,AY560599,AY560600,AY560601,AY576417,BC014566,BM971880,BT009764,CR603003,CR614548,U41767,U46005 NP_997080,NP_997077,NP_997079,NP_997078,NP_003806,NP_997074,AAM44189,AAS48590,AAS48591,AAS48592,AAS48593,AAS48594,AAS48595,AAS48596,AAS48597,AAS72298,CAI13273,CAI13274,CAI15327,CAI15328,BAD92394,BAG52157,BAH12126,BAG59477,BAG59890,AAR99331,AAS72991,AAS72992,AAS72993,AAS72994,AAS72995,AAS72996,AAS72997,AAS72998,AAS72999,AAS73000,AAH14566,AAP88766,AAC50404,AAC51112,Q13444,Q59GF2,ABW03624 Hs.312098 MDC15 ADAM 15|MDC-15|OTTHUMP00000033236|a disintegrin and metalloproteinase domain (adam) 15 (metargidin)|a disintegrin and metalloproteinase domain 15 (metargidin)|disintegrin and metalloproteinase domain-containing protein 15|metalloprotease RGD disintegrin protein|metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15|metargidin protein-coding 1345025 ADAM16 a disintegrin and metalloproteinase domain 16 8750 731400 ADAM17 ADAM metallopeptidase domain 17 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme(TACE); binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq] 2292150,2313250,2302204,2312470,1559178,1580863,1300253,2317976 19913121,20627730,20628086,20634891,18029348,15308656,15182369,15146197,15102849,15066987,14625290,14532978,12972643,12947092,12832423,12810728,12755693,12730960,12714588,12711607,12706122,12668732,12621058,12606576,12568494,12535668,12477932,12474981,12441351,12147693,12135369,12058067,12207026,14970227,16034137,10527948,12743035,18373975,18483258,18625725,17786981,18276953,18383040,17010968,9034190,19541935,19435795,19324423,19298600,19296470,19278423,19253070,19171023,19154693,19150341,19124506,19091752,19082505,18979631,18978678,18922903,18824549,18818406,18713734,18676862,18638486,18636124,18600307,18493210,18490652,18442814,18426733,18396294,18355445,18281553,18238782,18171982,18167350,17999917,17942404,17714581,17608729,17438092,17405915,17360351,17227756,17155946,17081983,16982746,16942750,16912185,16900751,16806063,16641105,16478662,16376986,16336275,16332693,16279945,16246259,16210695,16179345,16148149,16079149,15983030,15784625,15691827,15337756,15309730,12044879,11988096,11733179,10882063,10860581,10433800,10224132,9806848,9620803,9574564,9520379,9034191,8889548,11741929,15280379,20679348,20551051,20359533,20819075,10799478,11823465,15534001,16619241,17655843,17986144,19299578,19376560,19482949,19515085,19535569,19564338,19595713,19633828,19666115,19704010,19762488,19772640,19819120,19843672,19875451,19949420,19959661,20026129,20059578,20070837,20118276,20180536,20184396,20188673,20221248,20300049,20379614,9774383,9920899 2292150,2313250,2302204,2312470,1559178,1300253,2317976 6868 AC073195,AC080162,AC092206,CH471053,AK289829,AY422721,BC062687,BC136783,BC146658,BM725368,BQ186514,BX339672,CN258241,U69611,NM_003183,U69612,U86755,U92649,GQ402545 NP_003174,AAX93142,AAY14859,AAX93091,EAX00981,EAX00982,BAF82518,AAH62687,AAI36784,AAI46659,AAB51514,AAB53014,AAB51586,AAC39721,P78536,Q53RF5,Q53RS1,Q53S40,Q6P5T8,ACV30013 Hs.404914 ADAM18|CD156B|CSVP|MGC71942|TACE ADAM 17|ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme)|ADAM metallopeptidase domain 18|TNF-alpha convertase|TNF-alpha converting enzyme|TNF-alpha-converting enzyme|a disintegrin and metalloproteinase domain 17|disintegrin and metalloproteinase domain-containing protein 17|snake venom-like protease|tumor necrosis factor, alpha, converting enzyme protein-coding 1350533 ADAM18 ADAM metallopeptidase domain 18 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a sperm surface protein. [provided by RefSeq] 1580863 20379614,10395895,15489334,12975309,12477932,12200459,9665629,9373149,8125298,16344560 8749 NM_014237,AC109633,AC136365,CH471080,AJ133004,AK225744,AK313961,AY358321,BC034624,BC070279,BC121045,BC121046,DB049415,NM_001190956 NP_055052,EAW63276,EAW63277,CAB40812,BAG36677,AAQ88687,AAH34624,AAH70279,AAI21046,AAI21047,Q0VAI3,Q6IRW9,Q9Y3Q7,NP_001177885 Hs.127930 ADAM27|MGC41836|MGC88272|tMDCIII ADAM 18|a disintegrin and metalloproteinase domain 18|disintegrin and metalloproteinase domain-containing protein 18|disintegrin and metalloproteinase domain-containing protein 18; putative ADAM18 gene product|putative ADAM18 gene product|tMDC III|transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III protein-coding 735923 ADAM19 ADAM metallopeptidase domain 19 (meltrin beta) This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has also been demonstrated to be an active metalloproteinase, which may be involved in normal physiological and pathological processes such as cells migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. [provided by RefSeq] 1580863,1559267,2317976 18458692,19423540,19727588,20010835,20406964,20438785,20889312,19079262,18714391,17112471,16827870,15896713,15242783,14702039,12682046,12615925,12477932,12463424,12393862,12058067,12006600,11708814,11162584,11116142,10887142,9806848,9461614,8358434,10531379,20460109 1559267,2317976 8728 NM_033274,AC008676,AC008694,AC106801,CH471062,AF134707,AF311317,AF326918,AK091464,AK093535,AK308182,AL049415,BC024214,BC033132,Y13786 NP_150377,EAW61595,EAW61596,EAW61597,EAW61598,AAF22162,AAK07852,AAG50282,BAG52367,AAH24214,AAH33132,CAC20585,Q8TBU7,Q9H013,AAI40324 Hs.483944 FKSG34|MADDAM|MLTNB ADAM 19|ADAM metallopeptidase domain 19 (meltrin beta)|a disintegrin and metalloproteinase domain 19 (meltrin beta)|disintegrin and metalloproteinase domain-containing protein 19|meltrin beta|meltrin-beta|metalloprotease and disintegrin dendritic antigen marker protein-coding 69085 ADAM2 ADAM metallopeptidase domain 2 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. [provided by RefSeq] 68863,1580863 9041139,18292840,15489334,12477932,11882657,11784061,10518536,9889149,9070941,8702389 68863 2515 NM_001464,AC136365,AP005902,CH471080,AJ133005,AK301734,BC034957,BC064547,BG719616,BI460477,U38805,U52370,X99374,HC044539 NP_001455,EAW63273,EAW63274,EAW63275,CAB40813,BAG63199,AAH34957,AAH64547,AAD04206,AAC51110,CAA67753,Q6P2G0,Q99965,ABM82541,ABM85733,CBH30599 Hs.177959 CRYN1|CRYN2|CT15|FTNB|PH-30b|PH30 ADAM 2|PH-30|PH30-beta|cancer/testis antigen 15|disintegrin and metalloproteinase domain-containing protein 2|fertilin beta|fertilin subunit beta protein-coding 1345378 ADAM20 ADAM metallopeptidase domain 20 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq] 1580863 9469942,12477932,11807715,10524237 8748 NM_003814,AF158643,AL357153,CH471061,AA400588,AF029899,BC025378,HC006766,HC044543 NP_003805,AAD55254,EAW81037,AAC52041,AAH25378,O43506,ABW03729,CBH19189,CBH30601 Hs.177984 ADAM 20|a disintegrin and metalloproteinase domain 20|disintegrin and metalloproteinase domain-containing protein 20 protein-coding 1314846 ADAM21 ADAM metallopeptidase domain 21 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene lacks introns and its expression is testis-specific. [provided by RefSeq] 1580863 9469942,15489334,12477932,10524237 8747 NM_003813,AF158644,AL357153,AL391223,CH471061,AF029900,BC109024,BC109025 NP_003804,AAD55255,EAW81035,AAC52042,AAI09025,AAI09026,Q9UKJ8 Hs.178748 ADAM 21|ADAM31|MGC125389 ADAM metallopeptidase domain 21, preproprotein|a disintegrin and metalloproteinase domain 21|disintegrin and metalloproteinase domain-containing protein 21 protein-coding 1346763 ADAM21P ADAM metallopeptidase domain 21 pseudogene 16520872,10524237 145241 NR_003951,AF158640,AL160191,DQ202398 ABA43715 Hs.712468 ADAM21P a disintegrin and metalloproteinase domain 21 pseudogene pseudo 1352892 ADAM22 ADAM metallopeptidase domain 22 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. Alternative splicing results in several transcript variants. [provided by RefSeq] 1580863 9693107,16868027,19054571,18593599,18440780,17884303,17681454,16990550,16385342,15882968,15876356,14759258,12853948,12589811,12477932,11050470,10524237,18762889,20156119,20220021,20379614 53616 NM_021723,NM_021722,CA429662,DR000609,NM_016351,NM_004194,NM_021721,AC004992,AC005075,AC005164,AF158642,CH236949,CH471091,AB009671,AF073291,AF155381,AF155382,AF158637,AK125432,AK291010,BC036029,BC062433,BC092465,BC125117,BC125118 NP_068369,NP_057435,NP_004185,NP_068367,AAP21878,AAS07417,AAD55253,EAW76913,EAW76914,EAW76915,EAW76916,EAW76917,EAW76918,EAW76919,EAW76920,EAW76921,EAW76922,EAW76923,EAW76924,EAW76925,EAW76926,EAW76927,NP_068368,EAW76928,BAA32349,BAA32350,AAF22476,AAF73288,AAF73289,AAD55251,BAG54196,BAF83699,AAH36029,AAH62433,AAH92465,AAI25119,Q08AL8,Q6P667,Q75MS7,Q86UM2,Q8IYE7,Q9P0K1,Q9UKK0,EAW76929 Hs.592282 ADAM 22|MDC2|MGC149832 ADAM 22|OTTHUMP00000174588|a disintegrin and metalloproteinase domain 22|disintegrin and metalloproteinase domain-containing protein 22|metalloproteinase-disintegrin ADAM22-3|metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 protein-coding 1313949 ADAM23 ADAM metallopeptidase domain 23 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. [provided by RefSeq] 1580863 12477932,9693107,19549921,19477226,19089928,16103878,16094384,15862898,15146197,15146195,14697522,10749942,10524237,10506182,19824886,20379614,20851106 8745 NM_003812,AC009225,AC010731,AC079136,AF158641,CH471063,CS072966,AB009672,AJ005580,AK129906,AK296844,BC132763,BC132765,CN399765,H11006 NP_003803,AAX93195,AAY14948,AAX93210,AAD55252,EAW70386,EAW70387,CAI93690,BAA32351,CAC20565,BAG59410,AAI32764,AAI32766,O75077,Q53RX4,Q53TC0,Q53TK5,Q9UKK1 Hs.591643 MDC3 ADAM 23|MDC-3|a disintegrin and metalloproteinase domain 23|disintegrin and metalloproteinase domain-containing protein 23|metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3 protein-coding 1346074 ADAM24 a disintegrin and metalloproteinase domain 24 10395895 646479 AC124074,AP006248,NG_022410 ADAM24 pseudo 1350743 ADAM25 a disintegrin and metalloproteinase domain 25 11088 1354292 ADAM26 a disintegrin and metalloproteinase domain 26 11087 1347348 ADAM28 ADAM metallopeptidase domain 28 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. Alternative splicing results in two transcript variants. The shorter version encodes a secreted isoform, while the longer version encodes a transmembrane isoform. [provided by RefSeq] 1580863 20450360,20544843,21077327,20971063,10587367,19054571,18690470,17597069,17047053,16052521,15013428,12777399,12667064,11724793,10794709,10506182,12477932,19527685,19896699,20112342 10863 NM_014265,NM_021777,AC044891,AC120193,CH471080,AF137334,AF137335,AI475787,AI624552,AJ242015,AK293382,AK303437,BC136478,BC144140 NP_055080,NP_068547,EAW63608,EAW63609,AAD25099,AAD25100,CAB42085,BAG56894,BAG64485,AAI36479,Q9UKQ2 Hs.174030 ADAM 28|ADAM23|MDC-L|MDC-Lm|MDC-Ls|MDCL|eMDC II|eMDCII a disintegrin and metalloproteinase domain 28|disintegrin and metalloproteinase domain-containing protein 28|epididymial metalloproteinase-like, disintegrin-like, and cysteine-rich protein II|metalloproteinase-like, disintegrin-like, and cysteine-rich protein L|metalloproteinase-like, disintegrin-like, and cysteine-rich protein-L protein-coding 1342886 ADAM29 ADAM metallopeptidase domain 29 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq] 1580863 10512762,16344560,15802535,12477932,10644455,19340428 11086 NM_014269,NM_001130703,NM_001130704,NM_001130705,AC105914,CH471056,AF134708,AF171929,AF171930,AF171931,AK292410,BC036070,BU176889,DB039551,DB051105,DB073142,DB078034,DB080702,HC006768,HC044545 NP_055084,NP_001124175,NP_001124176,NP_001124177,AAY41055,EAX04727,EAX04728,AAF22163,AAF03777,AAF03778,AAF03779,BAF85099,Q4W5F3,Q9UKF5,AAI66695,CBH19190,CBH30602 Hs.126838 CT73|svph1 ADAM 29|OTTHUMP00000218946|OTTHUMP00000218947|OTTHUMP00000218948|OTTHUMP00000218949|a disintegrin and metalloproteinase domain 29|cancer/testis antigen 73|disintegrin and metalloproteinase domain-containing protein 29 protein-coding 1314448 ADAM30 ADAM metallopeptidase domain 30 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq] 1580863 10512762,18591388,18372903,16710414,12975309,12477932,19862325 11085 HC006770,HC044499,NM_021794,AL359752,CH471122,AF171932,AF171933,AK292483,AY358734,BC028372 CBH19191,CBH30579,NP_068566,CAI18978,EAW56717,AAF03780,AAF03781,BAF85172,AAQ89096,AAH28372,Q9UKF2,ABM81876,ABM85038 Hs.283011 svph4 ADAM 30|a disintegrin and metalloproteinase domain 30|disintegrin and metalloproteinase domain-containing protein 30 protein-coding 1345583 ADAM32 ADAM metallopeptidase domain 32 1580863 12568724,12477932,17081983,15489334,15340161,12975309,20379614 203102 BC030014,NM_145004,AC105091,AC105185,CH471080,AB209690,AK122608,AK129810,AK131038,AK300148,AK313864,AY172952,AY358739,BC026085,BC026169,BC028702,BC030698,BC034975,BI559590 NP_659441,EAW63282,BAD92927,BAC85489,BAC85238,BAG61934,BAG36592,AAO45696,AAQ89099,AAH26085,AAH26169,AAH28702,AAH30014,AAH30698,AAH34975,Q2VYF6,Q59EX1,Q6ZP86,Q6ZWL1,Q8TC27,ABM81836,ABM84987 Hs.521545 FLJ26299|FLJ29004 ADAM 32|a disintegrin and metalloprotease domain 32|a disintegrin and metalloproteinase domain 32|disintegrin and metalloproteinase domain-containing protein 32|metalloproteinase 12-like protein protein-coding 1313212 ADAM33 ADAM metallopeptidase domain 33 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1331525,1580863,4145379,4145380,4145383,4145361,4142862,4145382,4145358,4145359,4145360,4145357,4145378 11814695,19326508,19317339,19284602,19267929,19265133,19264973,19258923,19247692,19237393,19236319,19146844,18923449,18778489,18752037,18560587,18425216,18423563,18410963,17961406,17878941,17703412,17702965,17640346,17545039,17339047,17081983,17061022,16893396,16839403,16799089,16784537,16773130,16713569,16650044,16519819,16387804,16024651,15986064,15879414,15805180,15790980,15766253,15709049,15387895,15347848,15298558,15196271,15144468,14742294,14720258,14702039,14676211,14659745,14564349,12975309,12768445,12535637,12477932,12110844,11780052,19635592,19665773,19940503,19951440,19996348,20003279,20227692,20237496,20395963,20491578,20503287,20524005,20701904,20716621,19913121,20628086,20537279,20156753 1331525,4145379,4145380,4145383,4145361,4142862,4145382,4145358,4145359,4145360,4145357,4145378 80332 AK094070,AK095953,AK123015,NM_025220,AF466288,AL109804,AL356755,CH471133,DQ995342,AB055891,AF466287,AF466289,AK092627,NM_153202,AK126487,AK126498,AK226148,AK300429,AK304037,AL117415,AY223850,AY223852,AY223853,AY223854,AY223855,AY358314,BC062663,BC125112,BC125113 BAC04660,NP_694882,NP_079496,AAM80483,CAI18840,CAM26955,CAI23465,CAM28348,EAX10519,EAX10520,EAX10521,EAX10522,EAX10523,EAX10524,EAX10525,EAX10526,ABI97387,BAB83092,AAM80482,AAM80484,BAG62155,BAG64948,AAP15439,AAP15441,AAP15442,AAP15443,AAP15444,AAQ88680,AAH62663,AAI25113,AAI25114,Q08AM2,Q08AM3,Q6P5U4,Q7Z7E0,Q7Z7E1,Q7Z7E2,Q7Z7E3,Q7Z7E5,Q8N6B9,Q8N8Z9,Q9BZ11 Hs.173716 C20orf153|DJ964F7.1|DKFZp434K0521|FLJ35308|FLJ36751|MGC149823|MGC71889 ADAM 33|a disintegrin and metalloprotease 33|a disintegrin and metalloproteinase domain 33|disintegrin and metalloproteinase domain-containing protein 33|disintegrin and reprolysin metalloproteinase family protein protein-coding 1350597 ADAM3A ADAM metallopeptidase domain 3A (cyritestin 1) 16344560,12477932,11439107,9693117,9502432,20210993 1587 NR_001569,NR_024106,NR_024107,AC106011,AC123767,AJ005372,AK302269,AK308250,BC025386,BC042979,BG717260,DB335796,DB447356,X89654,X89655,X89656,X89657 BAG63615 Hs.98848 ADAM3|CYRN1|tMDCI a disintegrin and metalloproteinase domain 3a (cyritestin 1) pseudo 1352596 ADAM3B ADAM metallopeptidase domain 3B (non-functional) 9693117,11439107,9502432,9284909 1596 NG_001526,AC007861,Y10615 CAA71622,O00504 CYRN2 ADAM metallopeptidase domain 3B (cyritestin 2)|a disintegrin and metalloproteinase domain 3b (cyritestin 2) pseudo 1344462 ADAM4 a disintegrin and metalloproteinase domain 4 8758 1353792 ADAM5P ADAM metallopeptidase domain 5 pseudogene 632496 20210993,12477932,10417343,8786143 632496 255926 NR_001448,AC105185,AC106011,AJ132820,AJ132821,AJ132822,AJ132823,AJ132824,AJ132825,AJ132826,AJ132827,BC026083,BC047448,BC057230,BC067864 Q6NVV9 Hs.369765 ADAM5|TMDCII tmdc ii pseudo 1351124 ADAM6 ADAM metallopeptidase domain 6 14702039,9841928,16162398 8755 NR_002224,NG_001019,AB019441,AI024595,AK093400 BAG52709 Hs.662288 C14orf96|tMDCIV a disintegrin and metalloproteinase domain 6 pseudo 736113 ADAM7 ADAM metallopeptidase domain 7 The ADAM family is composed of zinc-binding proteins that can function as adhesion proteins and/or endopeptidases. They are involved in a number of biologic processes, including fertilization, neurogenesis, muscle development, and immune response.[supplied by OMIM] 1580863 16344560,12514095,12477932,11514362 8756 NM_003817,AC024958,AC120193,CH471080,AF090327,AF215824,AK292492,BC043207,BC058037,DB077360 NP_003808,EAW63606,AAC36742,AAG43987,BAF85181,AAH43207,AAH58037,Q6PEJ6,Q86XK9,Q9H2U9,AAI41423,AAI48736 Hs.116147 EAPI|GP-83 ADAM 7|OTTHUMP00000123544|a disintegrin and metalloprotease domain 7|a disintegrin and metalloproteinase domain 7|disintegrin and metalloproteinase domain-containing protein 7|epididymal apical protein I|sperm maturation-related glycoprotein GP-83 protein-coding 1343050 ADAM8 ADAM metallopeptidase domain 8 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1298587,1580863,2325243,2325244 18710625,9126482,19601829,19469654,19397475,19284887,18691140,18682798,18566576,17979891,17548643,17339047,16344560,15623614,12477932,12135759,10354553,19575316,21077325,20453887,15574124,16385451,18811590,19714641,19766586,20628624 1298587,2325243,2325244 101 AK304324,NM_001109,NM_001164489,NM_001164490,AK310662,AK312834,BC064500,BC115404,BI908229,BM144968,BM146234,BQ007791,CR997306,D26579,DA936506,DB142906,DC401057,DC408787,AL592071,CH471211,CS174020,AK301147 NP_001157962,NP_001100,NP_001157961,BAH14159,BAG35688,AAI15405,BAA05626,P78325,Q14C66,EAW61325,EAW61326,CAJ34536,BAG62738 Hs.720760 CD156|MGC134985|MS2 ADAM 8|a disintegrin and metalloproteinase domain 8|cell surface antigen MS2|disintegrin and metalloproteinase domain-containing protein 8|human leukocyte differentiation antigen protein-coding 1321127 ADAM9 ADAM metallopeptidase domain 9 (meltrin gamma) This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Two alternative splice variants have been identified, encoding distinct isoforms. [provided by RefSeq] 1580863,2317976,2325246,2325247,2325249,1559151 16336960,10531379,8647900,15361064,11162558,17704059,9920899,11831872,17018608,19473694,19409519,19394555,19253070,19237226,18061337,17342749,17081983,16806063,16311053,15856464,15280379,15205330,14997207,12767059,12535668,12484779,12477932,12135759,12054541,11955914,11882657,10527948,9857183,9016778,8809033,7584028,7584026,19505527,19543729,19564338,20422344,20736367,20388695 2317976,2325246,2325247,2325249,1559151 8754 NM_003816,NR_027638,NR_027639,NR_027878,AC105091,AC108863,CH471080,AF495383,AK293257,AV708278,BC027996,BC126406,BC143923,BC143924,CR591969,CR601711,D14665,U41766,NG_016335 NP_003807,EAW63283,EAW63284,EAW63285,AAM49575,BAG56789,AAI26407,AAI43924,BAA03499,AAC50403,A0AVL1,Q13443 Hs.591852 CORD9|KIAA0021|MCMP|MDC9|Mltng ADAM 9|ADAM metallopeptidase domain 9 (meltrin gamma)|OTTHUMP00000216481|OTTHUMP00000216484|OTTHUMP00000216485|cellular disintegrin-related protein|disintegrin and metalloproteinase domain-containing protein 9|metalloprotease/disintegrin/cysteine-rich protein 9|myeloma cell metalloproteinase protein-coding 1320430 ADAMDEC1 ADAM-like, decysin 1 This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq] 1580863 9271581,19218196,18449420,16335952,15489334,14632642,12477932,12037602,11673514 27299 NM_001145271,NM_014479,NM_001145272,AC120193,CH471080,AK300959,AK301007,AK311528,AK316320,AK316322,BC069582,BC074877,BC074878,DC387711,Y13323 NP_001138743,NP_055294,NP_001138744,EAW63607,BAH13381,BAH13391,BAH14691,BAH14693,AAH69582,AAH74877,AAH74878,CAA73764,O15204 Hs.521459 FLJ79219|M12.219 ADAM DEC1|ADAM-like protein decysin-1|a disintegrin and metalloproteinase domain-like protein decysin-1|decysin|disintegrin protease protein-coding 736845 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq] 1580863 18775505,19615732,19915008,20103648,20484033,8995297,10438512,19608765,19404339,19349275,19027488,19023099,19010931,19007777,18192475,18174457,18076023,17975119,17897672,17560840,17167179,16675485,16641089,16495931,16328961,16314835,16061471,15967414,15878613,15661359,15599946,15184385,14996435,14760803,14702039,12907688,12716911,12477932,12054629,12054626,11831030,11278559,10930576,10830953,10811842,10785405,10718198,10373500,10094461,9593739,21037509,20546609 9510 NM_006988,AP001598,AP001599,AP001697,CH471079,AB037767,AF060152,AF170084,AF207664,AK023795,AK129873,AK314475,AL162080,AW163724,BC036515,BX647388,CR599440,CR600774,DQ108407 NP_008919,BAA95502,EAX09951,EAX09952,BAA92584,AAD48080,AAF15317,AAF23772,BAC85245,BAG37080,CAB82413,AAH36515,CAI46043,AAZ73034,Q5HYL0,Q6ZP79,Q8NE26,Q9UHI8,ABM87764,ABW03905 Hs.643357 C3-C5|KIAA1346|METH1 A disintegrin and metalloproteinase with thrombospondin motifs 1|ADAM-TS 1|ADAM-TS1|ADAMTS-1|METH-1|a disintegrin and metalloproteinase with thrombospondin motifs 1 (adamts-1)|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1|human metalloproteinase with thrombospondin type 1 motifs protein-coding 1314467 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq] 1580863 18567016,18391951,15368195,15358598,15355968,15203218,15146197,15094112,14598350,12477932,11941487,11167130,19696795,19836009,20881960 81794 NM_030957,NG_011840,AC092315,AC130469,CH471139,AB209515,AF163762,AK131414,BC029308,BF588726,BI822988,BM928283,BX461830,CD632934,CD632956,CD632974,CN431169 NP_112219,EAW68907,EAW68908,BAD92752,AAG35563,BAD18561,Q59FE5,Q6ZN14,Q9H324 Hs.657508 ADAM-TS10|WMS A disintegrin and metalloproteinase with thrombospondin motifs 10|ADAM-TS 10|ADAMTS-10|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10|zinc metalloendopeptidase protein-coding 1316449 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq] 1580863 19098927,17895370,17081983,16611630,15489334,12975309,12477932,11279086,11167130,10737800,19151918,19638407,20379614,20400778 81792 NM_030955,AC008880,AC034232,AC109491,AC139777,CH471118,AJ250725,AW938686,AY358745,BC058841,BC131733,BC139900 NP_112217,EAX10808,EAX10809,CAC20419,AAQ89105,AAH58841,AAI31734,AAI39901,P58397 Hs.12680 PRO4389 A disintegrin and metalloproteinase with thrombospondin motifs 12|ADAM-TS 12|ADAM-TS12|ADAMTS-12|OTTHUMP00000221211|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 protein-coding 1323132 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq] 1598737,1580863 20647566,20734064,11557746,12775718,11535495,19506365,19427680,19422343,19389207,19270304,19260037,19253359,19234142,19190814,19190805,19190804,19116307,19069166,19054323,19047683,19041237,18988930,18983500,18981290,18940312,18835837,18833927,18801485,18756543,18725999,18665921,18609162,18581589,18521503,18502798,18492952,18492805,18449422,18433458,18332284,18327408,18263586,18240172,18223285,18194418,18175284,18166799,18031293,17988227,17928530,17922807,17901248,17849048,17768109,17764538,17725738,17395589,17296575,17294528,17229645,17121983,17087728,17053057,17030346,17003922,16990571,16953270,16899464,16894459,16807643,16794526,16755777,16634765,16597588,16468327,16453338,16449289,16391894,16344560,16335952,16322474,16286459,16221672,16203734,16189276,16160007,16141351,16113782,16102037,15975930,15890682,15886321,15865866,15855280,15842379,15824096,15809291,15774620,15774619,15711742,15710227,15692254,15583740,15388580,15327386,15249683,15182579,15175818,15164053,15126318,15009467,15009458,14976043,14962303,14727263,14727259,14727257,14727256,14727255,14727254,14644076,14563640,14525793,14512317,14512308,12975358,12975309,12923577,12871391,12871390,12869506,12855569,12791682,12753286,12615692,12614216,12477932,12395148,12393505,12393399,12393397,12223999,12195022,12181489,12172456,12130486,12091372,12091044,12084165,12038781,11920264,11867212,11843286,11586351,11586344,11574066,11535494,11230166,11167130,8639782,8639781,19422532,20605782,20307901,19809308,20390223,19492149,20664912,20682599,20141578,18996572,19027144,19162307,19439298,19541819,19574655,19584892,19587373,19654870,19682236,19718479,19729451,19765208,19765212,19812385,19822897,19847791,19880749,19897584,19944670,19996632,20032502,20054668,20058209,20062916,20075158,20201926,21077328 1598737 11093 NG_011934,AL158826,AL593848,AY532929,AY532930,AY532931,AY532932,CH471090,DQ422807,AB069698,AF414401,AJ011374,AJ305314,AJ420810,AJ420811,AK124983,AK292439,AL136809,AW197188,AY055376,AY358118,BC034404,BC039251,BC103828,BC103829,BC103830,DB069518,NR_024514,NM_139025,NM_139027,NM_139026 NP_620595,CAI12850,CAI12851,CAI12852,AAS54901,AAS54902,AAS54903,AAS54904,EAW88083,EAW88084,EAW88085,EAW88086,EAW88087,EAW88088,ABD72606,BAB69487,AAL11095,CAB66157,CAC83682,CAD12729,CAD12730,BAG54119,BAF85128,CAB66743,AAL17652,AAQ88485,Q6QNA4,Q6QNA5,Q6QNA6,Q6QNA7,Q76LX8,Q9UGQ1,AAI72369,NP_620594,NP_620596 Hs.131433 C9orf8|DKFZp434C2322|FLJ42993|MGC118899|MGC118900|TTP|VWFCP|vWF-CP A disintegrin and metalloproteinase with thrombospondin motifs 13|ADAM-TS 13|ADAM-TS13|ADAMTS-13|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13|vWF-cleaving protease|von Willebrand factor-cleaving protease protein-coding 1318933 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined. [provided by RefSeq] 1580863 15913795,11867212,11779638,11741898,16385451,18790654,19851299,20378664,20379614 140766 NM_139155,NM_080722,AL355344,AL358817,CH471083,AF358666,AF366351,AJ345098,AK128469 NP_631894,NP_542453,CAI41277,CAI41278,CAI13857,CAI13858,EAW54409,EAW54410,AAL40229,AAL79814,CAC87943,Q5T4G1,Q8WXS8,AAI40264 Hs.352156 FLJ32820 A disintegrin and metalloproteinase with thrombospondin motifs 14|ADAM-TS 14|ADAM-TS14|ADAMTS-14|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14|metalloprotease-disintegrin protease protein-coding 1320284 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8. [provided by RefSeq] 1580863 19458070,16152618,15599946,15489334,12477932,11867212,20590445 170689 NM_139055,AP002986,AP003459,CH471065,AJ315733,BC109114,AK130067 NP_620686,EAW67786,EAW67787,CAC86014,AAI09115,Q8TE58 Hs.534221 MGC126403 A disintegrin and metalloproteinase with thrombospondin motifs 15|ADAM-TS 15|ADAM-TS15|ADAMTS-15|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15, preproprotein|metalloprotease disintegrin 15 with thrombospondin domains protein-coding 1320722 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member. [provided by RefSeq] 1580863 19423552,19635554,20379614,17519324,16507336,14702039,11867212 170690 FJ515844,NM_139056,AC010269,AC022424,AC091978,CH471102,AB095949,AJ315734,AK122980,AK127746,DQ266047 ACS13738,NP_620687,EAX08117,EAX08118,EAX08119,EAX08120,BAC23125,CAC86015,BAG53830,BAG54564,ABB70405,Q2XQZ0,Q8TE57,AAI40298 Hs.661915 ADAMTS16s|FLJ16731 A disintegrin and metalloproteinase with thrombospondin motifs 16|ADAM-TS 16|ADAM-TS16|ADAMTS-16|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 protein-coding 1318756 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq] 1580863 20546612,18391951,16344560,14702039,11867212,21037509,19266077,19836009,20200978 170691 AC015723,AC022710,AC084855,AC113187,CH471101,DQ217943,AA884550,AJ315735,AK057331,AK057529,AK131344,DB279404,NM_139057,NG_016287 NP_620688,EAX02261,EAX02262,EAX02263,EAX02264,ABB70740,CAC86016,BAD18500,Q8TE56,AAI52746 Hs.513200 FLJ16363|FLJ32769 A disintegrin and metalloproteinase with thrombospondin motifs 17|ADAM-TS 17|ADAM-TS17|ADAMTS-17|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 protein-coding 1353739 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq] 1580863 19249006,18398821,16507336,15489334,14702039,12477932,11867212,8889548,17546048,19844255,20164292,20379614,19806480 170692 NM_199355,AC009139,AC010548,AC025284,CH471114,AF086229,AI792764,AJ311903,AK122677,AK131403,AK293831,AY172951,BC063283,BM684970 NP_955387,EAW95598,EAW95599,EAW95600,EAW95601,EAW95602,CAC83612,BAD18550,BAG57234,AAO45695,AAH63283,Q2VYF7,Q6ZN25,Q8TE60,BAC85503 Hs.188746 ADAMTS21 A disintegrin and metalloproteinase with thrombospondin motifs 18|ADAM-TS 18|ADAM-TS18|ADAMTS-18|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21|disintegrin and metalloprotease-like protein protein-coding 1318082 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. 1580863 11867212,19508998 171019 NM_133638,AC008425,AC008528,AC008591,AC106781,AC129713,CH471062,AI366752,AJ311904,AK122622,AK128729,AW473680,CR597547 NP_598377,EAW62381,EAW62382,EAW62383,EAW62384,EAW62385,CAC84565,BAG53626,Q8TE59,AAI56493 Hs.23751 FLJ16042 A disintegrin and metalloproteinase with thrombospondin motifs 19|ADAM-TS 19|ADAM-TS19|ADAMTS-19|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 protein-coding 1321433 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in two transcript variants. The short transcript encodes a protein which has no significant procollagen N-peptidase activity. [provided by RefSeq] 1598739,1580863 15146197,18937294,10417273,15373769,14730609,12477932,11788898,11741898,11167130,11076863,10464288,10094461,7735500,16046392,16344560,20574651 1598739 9509 CN305044,NG_023212,NM_014244,NM_021599,AC008470,AC008544,AC010216,AC016557,AC034202,AC109479,CH471165,AI417257,AJ003125,AK308213,BX479109,CO247372,BC098581,BU629258,BX537606,CA445758,CR598488,DA928965 NP_055059,NP_067610,EAW53815,EAW53816,CAA05880,O95450,AAI11460 Hs.23871 ADAM-TS 2|ADAM-TS2|ADAMTS-2|ADAMTS-3|DKFZp686F12218|NPI|PC I-NP|PCI-NP|PCINP|PCPNI|PNPI|hPCPNI|pNPI A disintegrin and metalloproteinase with thrombospondin motifs 2|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2|procollagen I N-proteinase|procollagen I/II amino propeptide-processing enzyme|procollagen N-endopeptidase protein-coding 1317084 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 14702039,12562771,20221248,12514189 80070 NM_025003,AC090525,AC107018,AC120104,CH471111,AF488804,AJ515153,AJ515154,AK023228 NP_079279,EAW57861,EAW57862,EAW57863,EAW57864,AAO15766,CAD56159,CAD56160,BAB14479,P59510,Q9H8X0 Hs.287554 ADAM-TS20|ADAMTS-20|GON-1 A disintegrin and metalloproteinase with thrombospondin motifs 20|ADAM-TS 20|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20|a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 20 protein-coding 1321838 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene is the major procollagen II N-propeptidase. A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues. [provided by RefSeq] 1580863 11812023,11408482,15708897,12477932,11831030,11741898,11167130,10464288,9205841,10094461,20881960 9508 AC093790,AC095056,AC104814,CH471057,AB002364,AF247668,BC016451,BC019707,BC130287,BC132735,NM_014243 NP_055058,EAX05651,EAX05652,BAA20821,AAK28400,AAH16451,AAI30288,AAI32736,O15072,Q96AY5 Hs.590919 ADAMTS-4|KIAA0366 A disintegrin and metalloproteinase with thrombospondin motifs 3|ADAM-TS 3|ADAM-TS3|ADAMTS-3|PC II-NP|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3|procollagen II N-proteinase|procollagen II amino propeptide-processing enzyme|zinc metalloendopeptidase protein-coding 1346398 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma. [provided by RefSeq] 1580863 16188468,18718938,18941754,19643179,19944557,20664926,10751421,14744861,10356395,19342688,19054571,18671934,18660489,18387286,18221525,18156631,18050214,18042673,18039650,17978660,17606262,17470431,17430884,17311924,17295438,17265492,17208315,17095512,17009305,16771712,16741450,16723216,16710414,16677612,16344560,16099106,16003758,15489334,15161923,14715656,14701864,14662755,14561220,12975309,12646579,12477932,12202483,11956193,11854269,11831030,11801682,11796708,11278559,11254106,11167130,10986281,10827174,10801887,10464288,10438522,10094461,9734811 9507 NM_005099,AL590714,AY044847,CH471121,AB014588,AF148213,AK291573,AL603427,AY358886,BC030812,BC063293,DA098917,DQ364570 NP_005090,CAH72146,CAH72147,AAL02262,EAW52627,BAA31663,AAD41494,BAF84262,AAQ89245,ABC88384,O75173,Q2HYD0,AAH63293 Hs.211604 ADAMTS-2|ADAMTS-4|ADMP-1|KIAA0688 A disintegrin and metalloproteinase with thrombospondin motifs 4|ADAM-TS 4|ADAM-TS4|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4|aggrecanase-1 protein-coding 1343923 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. [provided by RefSeq] 1580863 10438522,18029348,18830934,18671934,18478108,18240210,18156631,18042673,17991750,17978660,17430884,17265493,17265492,17211519,17067994,16507336,16133547,16003758,15489334,14715656,14702039,12477932,12392761,11956193,11854269,11831030,11801682,11231277,11167130,11032846,10830953,10464288,9688535,15599946,19643179,19684582,19834535,20237151 11096 AK095905,BC093775,BC093777,NM_007038,AP001600,AP001601,AP001697,AP001698,CH471079,AF086299,AF086358,AF141293,AF142099,AK094057 AAH93775,AAH93777,Q9UNA0,NP_008969,BAA95503,BAA95504,EAX09948,EAX09949,AAF02493,AAD49577 Hs.58324 ADAMTS11|ADMP-2|FLJ36738 A disintegrin and metalloproteinase with thrombospondin motifs 5|ADAM metallopeptidase with thrombospondin type 1 motif, 5 (aggrecanase-2)|ADAM-TS 11|ADAM-TS 5|ADAM-TS5|ADAMTS-11|ADAMTS-5|a disintegrin and metalloproteinase with thrombospondin motifs 11|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)|aggrecanase-2 protein-coding 1317007 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. [provided by RefSeq] 1580863 18579725,16129570,12477932,11167130,10464288,8401585,7566098,20379614 11174 AC008847,AC008868,AC025176,AC025186,AC099505,AA318687,AA333577,AA907572,AB209685,AF140674,AK131039,AY692422,AY692423,AY692424,AY692425,AY692426,BC010563,BC020916,BC071654,NM_197941,BG117513,CR749356,W05436 NP_922932,BAD92922,AAD56357,BAC85480,AAW47395,AAW47396,AAW47397,AAW47398,AAW47399,CAH18209,Q5IR90,Q6ZNM4,Q9UKP5,AAI56432 Hs.482291 ADAM-TS 6|ADAM-TS6|ADAMTS-6 A disintegrin and metalloproteinase with thrombospondin motifs 6|OTTHUMP00000221883|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 protein-coding 1315487 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs. [provided by RefSeq] 1580863 10464288,19487464,19098927,16585064,12477932,11167130,20718794 11173 NM_014272,NG_011492,AC022748,CH471136,AB209497,AF140675,AK299844,AL110226,AL359934,AY327122,BC061631,CB991707 NP_055087,EAW99148,EAW99149,EAW99150,EAW99151,BAD92734,AAD56358,BAG61706,CAB53684,CAB95770,AAQ94616,AAH61631,Q59FG3,Q9NPM2,Q9UFZ4,Q9UKP4 Hs.16441 ADAM-TS 7|ADAM-TS7|ADAMTS-7|DKFZp434H204 A disintegrin and metalloproteinase with thrombospondin motifs 7|COMPase|a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 protein-coding 1318322 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. [provided by RefSeq] 1580863 10438512,10610729,17606262,16570050,16152618,15328519,15296936,14702039,12477932,20201926 11095 NM_007037,AP002986,CH471065,AB209717,AF060153,AF175283,AK123706,BC089435,BC113874,BM988619,BC114624 NP_008968,EAW67783,EAW67784,EAW67785,BAD92954,AAD48081,AAF25806,BAG53941,AAH89435,AAI13875,Q29RW5,Q59EU4,Q5FWF1,Q9UP79,AAI14625 Hs.271605 ADAM-TS8|FLJ41712|METH2 A disintegrin and metalloproteinase with thrombospondin motifs 8|ADAM-TS 8|ADAMTS-8|METH-2|METH-8|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 protein-coding 1315761 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. [provided by RefSeq] 1580863 19324937,10936055,12514189,19502414,19020324,19020323,18714373,18694974,18591388,18567820,18449890,18372903,19247373,19139842,16799631,16537537,16507336,15599946,14702039,12477932,11167130,10718198,20551050,20712903,20734064,20816152,20879858,20889853,20927120,20935629,19052845,19602701,19670153,19720844,19741467,19794065,19833888,19862325,19875450,19933996,19963134,20075150,20093484,20161779,20203524,20379614,20490451 56999 NM_182920,AC096888,AC122178,CH471055,AB037733,AF261918,AF488803,AK124945,AK300357,AK303343,AK310571,BC026271,BC036770,BC130578,BC171764,BX482310,CD103111,CR619556 NP_891550,EAW65434,EAW65435,BAA92550,AAF89106,AAO15765,BAG62098,BAG64406,AAI30579,AAI71764,Q9P2N4 Hs.656071 FLJ42955|KIAA1312 A disintegrin and metalloproteinase with thrombospondin motifs 9|ADAM-TS 9|ADAM-TS9|ADAMTS-9|OTTHUMP00000213331|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 protein-coding 1315056 ADAMTSL1 ADAMTS-like 1 This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq] 17395588,12477932,16344560,15489334,15164053,14702039,14667842,12975309,11805097,9628581,19671700,19824886,20379614,19913121,20628086 92949 NM_001040272,NM_052866,AL158150,AL353895,AL442638,AL449963,AL591423,CH471071,AF176313,AF251058,AI750970,AK092602,AK123028,AK128724,AK290667,AK291956,AY358327,BC030262,BC100788,BC100789,BC100790,BX640951,CR740880,CX758410,DA549329,DA598045 NP_001035362,NP_443098,CAM14351,CAM14352,CAO03592,CAI14851,CAI14853,CAM20931,EAW58656,AAK84170,AAK34948,BAC03925,BAF83356,BAF84645,AAQ88693,AAH30262,AAI00789,AAI00791,CAE45975,Q6MZQ3,Q8N6G6 Hs.726502 ADAMTSL-1|ADAMTSR1|C9orf94|DKFZp686L03130|FLJ35283|FLJ41032|FLJ46891|MGC118803|MGC118805|MGC40193|PUNCTIN ADAM-TS related protein 1|ADAMTS-like 1|ADAMTS-like protein 1|punctin-1 protein-coding 1343515 ADAMTSL2 ADAMTS-like 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq] 1580863 12477932,9628581,18677313,17509843,15489334,14667842 9719 NM_001145320,NM_014694,NG_009931,BX324209,BX629352,BX649571,CH471090,AB011177,AI571260,AK127107,AK293498,BC050544 NP_001138792,NP_055509,CAI17317,CAI23592,CAM28356,CAI18773,CAM26559,EAW88095,EAW88096,EAW88097,BAA25531,BAG54437,BAG56984,AAH50544,Q86TH1 Hs.522543 FLJ45164|KIAA0605 ADAMTS-like protein 2|ADAMTSL-2 protein-coding 1313018 ADAMTSL3 ADAMTS-like 3 19266077,18391952,18391951,18391950,17597111,14702039,14667842,12508121,12477932,10574462,9628581,20546612,20589678,19343178,20189936,20397748 57188 NM_207517,AC027807,AC087738,AC116157,CH471188,AB033059,AF237652,AK092324,AK308845,AL109723,AL109724,BC128389,BC128390,BE646238,CR621245 NP_997400,EAW62418,BAA86547,AAK15041,AAI28390,AAI28391,P82987 Hs.459162 KIAA1233|MGC150716|MGC150717 ADAMTS-like protein 3|ADAMTSL-3|a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3|punctin-2 protein-coding 1351069 ADAMTSL4 ADAMTS-like 4 This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 16364318,18029348,19200529,16710414,16335952,16189514,15498874,15489334,14702039,12975309,12706885,12477932,10842357,10737800,8889548,20702823,20564469,19060904,20141359 54507 NM_019032,NM_025008,NG_012172,AL356356,CH471121,AF217974,AF289612,AF370411,AI637480,AK023606,AK092509,AK293037,AL122085,AL513944,AY358122,BC027478,BC071852,BC094811,BC140800,BC144581,BG005397,BM148104,BM721520,BX282114,BX370116,BX647294,CB960863,CB988088,CR592841,CR598356,CR599036 NP_061905,NP_079284,CAI15499,CAI15500,EAW53542,EAW53543,AAG17217,AAL55796,AAQ15247,BAB14619,BAF85726,CAB59258,AAQ88489,AAH27478,AAH71852,AAH94811,AAI40801,AAI44582,Q6UY14,Q71RC7,Q8WYY2,Q9H8J7,Q9UFG7,AAI67841 Hs.516243 TSRC1 ADAMTS-like protein 4|ADAMTSL-4|OTTHUMP00000032789|thrombospondin repeat containing 1|thrombospondin repeat-containing protein 1 protein-coding 1313735 ADAMTSL5 ADAMTS-like 5 17113583,15489334,14702039,12477932,19851296,20198315 339366 NM_213604,AC027307,CH471139,AK131571,AK302020,BC040620,BC119796,BC139833,DR979736 NP_998769,EAW69486,EAW69487,EAW69488,EAW69489,EAW69490,BAD18703,BAG63419,AAH40620,AAI19797,AAI39834,Q0VD77,Q6ZMM2 Hs.371674 THSD6 ADAMTS-like protein 5|ADAMTSL-5|thrombospondin type-1 domain-containing protein 6|thrombospondin, type I, domain containing 6|thrombospondin, type i, domain containing 6 protein-coding 733651 ADAP1 ArfGAP with dual PH domains 1 1580863 10333475,10448098,12018390,12893243,16805830,16341594,16287813,15778454,15679100,15489334,15106847,14702039,14690521,14625293,12761501,12565890,12499840,21057110,18298663,12477932,11869802,11278595,12062430,16169070,16176273,18029348,19423540,20406964,20438785 11033 NM_006869,AC073957,CH236965,CH471144,AB097049,AF082324,AI910700,AJ006422,AK092471,AK124979,AK290517,AK300644,AK300859,AK300999,BC033747,CR607974,CR619954,CR625461,CR975507 NP_006860,EAL23709,EAW87182,EAW87183,EAW87184,BAC77402,AAD11414,CAA07024,BAG52556,BAG54118,BAF83206,BAG62332,BAG62509,BAG62618,AAH33747,O75689 Hs.644629 CENTA1|GCS1L|p42IP4 OTTHUMP00000200049|arf-GAP with dual PH domain-containing protein 1|centaurin, alpha 1|centaurin-alpha|centaurin-alpha-1|cnt-a1|putative MAPK-activating protein PM25 protein-coding 734306 ADAP2 ArfGAP with dual PH domains 2 1580863 20546612,10843809,9373149,8125298,16169070,18541383,20098747,14690521,12018390,16138909,19291764,19266077,18391951,17632510,15489334,12477932,18482256,20379614,17207965 55803 NM_018404,AC138207,CH471147,AJ238994,AJ242782,AJ272195,AK074196,AK074204,AK222526,BC033758,DQ288859 NP_060874,EAW80287,EAW80288,EAW80289,CAB88383,CAC40651,CAB77266,BAD96246,AAH33758,ABB90599,Q2V6Q1,Q53HQ4,Q9NPF8,ADQ32352 Hs.514063 CENTA2|HSA272195|cent-b arf-GAP with dual PH domain-containing protein 2|centaurin beta|centaurin, alpha 2|centaurin-alpha 2 protein|centaurin-alpha-2|cnt-a2 protein-coding 736989 ADAR adenosine deaminase, RNA-specific This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1559268,1300254 16344560,20590675,7565688,9020165,18029348,19434718,19124606,18835380,18799292,18753201,18705826,18627385,18362360,18243666,18178553,17698644,17680540,17569068,17478391,17225010,17081983,17079286,17033168,17021765,17020943,16964243,16917490,16886895,16475990,16133458,16120648,16055709,15955093,15724015,15723802,15659327,15635413,15556947,15489334,15342791,15146470,15102079,14711814,14702039,12954622,12916015,12702817,12665561,12618436,12477932,12453429,12447867,12429827,12414985,12396729,12243919,11907222,11752786,11604520,11593027,11451992,11421361,10535945,10364558,10200312,9735305,9237992,8586444,7972084,7862132,7618288,7490742,3175763,11278278,10899322,9330696,9103436,19559055,19605474,19637911,19667218,19710021,19713932,19733181,19913273,20069304,20379614,20844743,20805743,20430589,20439151,20588308,20186421,20300939,20875819,20708476 1559268,1300254 103 DA507408,EF190448,EF190452,EF190453,NM_001193495,X98563,EF190449,EF190450,U10439,U18121,X79448,X79449,X98559,DR158819,NM_001025107,NM_001111,NM_015840,NM_015841,NG_011844,AL592078,AL606500,AL691488,CH471121,U75503,AA449679,AB209891,AK097241,AK304153,BC017853,BC038227,BE886208,BU430287,BX538232,BX640741,CD108625,CR602350,CR612377,CR982397 ABM73519,NP_001180424,ABM73520,AAB06697,AAC13782,CAA55967,CAA55968,CAA67169,CAA67170,P55265,Q59EC0,ABW03910,ABW03600,NP_001020278,NP_001102,NP_056655,NP_056656,CAI16183,CAI16185,CAH71907,CAH71908,CAI17375,CAI17376,EAW53183,EAW53184,EAW53185,EAW53187,EAW53188,EAW53189,EAW53190,AAB97116,AAB97117,AAB97118,BAD93128,BAH14119,AAH38227,CAD98075,CAE45853,EAW53186 Hs.679967,Hs.12341 ADAR1|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|K88dsRBP|P136|p136 136 kDa double-stranded RNA binding protein|136 kDa double-stranded RNA-binding protein|adenosine deaminase acting on RNA 1-A|double-stranded RNA-specific adenosine deaminase|dsRNA adenosine deaminase|interferon-induced protein 4|interferon-inducible protein 4 protein-coding 732582 ADARB1 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq] 1580863,1300255 9113993,9111310,8995285,8889548,8559253,11278278,10899322,9330696,9103436,19156214,18178553,17903307,17728516,17525170,17071493,16961545,16733555,16297572,16141067,15383678,15302935,14759258,14759252,14612560,12859334,12477932,12459255,12414985,12163487,11907222,11717408,10830953,9330641,9149227,9143496,20372915,19642681,19713932,20011587,20215858,20379614 1300255 104 NM_015833,NM_015834,NM_001112,NM_001160230,NR_027672,NR_027673,NR_027674,AL133499,AL163301,AP001579,BX322560,CH471079,Z95973,Z95974,Z95975,Z95976,AB194369,AB194370,AB194371,AB194372,AB194373,AF001042,AF525422,AF533142,AY082339,AY135659,BC030663,BC046198,BC065545,BU726292,U73197,U76420,U76421,U76422,U82120,U82121,X99227,X99383,FJ169506 NP_056648,NP_056649,NP_001103,NP_001153702,CAB90493,EAX09357,EAX09358,EAX09359,EAX09360,EAX09361,EAX09362,CAB09392,BAE16325,BAE16326,BAE16327,BAE16328,BAE16329,AAB58300,AAM83100,AAM97654,AAL99252,AAN10291,AAH65545,AAB18134,AAC51240,AAC51241,AAC51242,AAB61686,AAB61687,CAA67611,CAA67762,O43263,P78563,Q4AE77,Q4AE81,Q6P0M9,Q86XN4,Q8NFA1,Q8TCX7,ACN49027 Hs.474018 ADAR2|DRABA2|DRADA2|RED1 OTTHUMP00000115341|RED1 homolog|RNA editase|RNA editing deaminase 1|RNA-editing deaminase 1|RNA-editing enzyme 1|adenosine deaminase, RNA-specific, B1 (RED1 homolog rat)|adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)|adenosine deaminase, rna-specific, b1|double-stranded RNA-specific editase 1|dsRNA adenosine deaminase|human dsRNA adenosine deaminase DRADA2 protein-coding 736199 ADARB2 adenosine deaminase, RNA-specific, B2 (RED2 homolog rat) This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. 1580863 20709820,18029348,10836796,16344560,15635413,15164054,14702039,12477932,9272162,8889549,11278278,10899322,9330696,9103436,16385451,19197348,20011587,20379614,20923822 105 NM_018702,AC026224,AL392083,AL442069,AL450386,AL513304,CH471072,AF034837,AI695657,AK055107,AK057763,AK094294,AK289895,AK307451,AK308579,BC047443,BC137477,BC139725,BC140852,DA533361 NP_061172,CAH72169,CAH72170,CAH72171,CAH73405,EAW86508,AAF78094,BAG51468,BAF82584,AAH47443,AAI37478,AAI39726,AAI40853,Q5VW42,Q5VW43,Q86X17,Q9NS39 Hs.657984 ADAR3|FLJ25034|FLJ36975|RED2|hRED2 RED2 homolog|RNA-dependent adenosine deaminase 3|RNA-editing deaminase 2|RNA-editing enzyme 2|adenosine deaminase, RNA-specific, B2 (RED1 homolog rat)|adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)|adenosine deaminase, rna-specific, b2|double-stranded RNA-specific editase B2|dsRNA adenosine deaminase B2|homolog of rat BLUE protein-coding 1320789 ADAT1 adenosine deaminase, tRNA-specific 1 This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. [provided by RefSeq] 10430867,14702039,12477932,19844255 23536 NM_012091,AC025287,CH471114,AF125188,AK001687,NR_036460,AK296834,AK314652,BC002758,DC395938 NP_036223,EAW95625,EAW95626,EAW95627,AAD48376,BAG59404,BAG37213,AAH02758,Q9BUB4,ABM83927,ABM87246,BAA91837 Hs.188661 HADAT1 adenosine deaminase acting on tRNA|tRNA-specific adenosine deaminase 1|tRNA-specific adenosine-37 deaminase protein-coding 1320091 ADAT2 adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae) 16344560,12477932,12457566,11181995,8889548,20581866 134637 NM_182503,AL031320,CH471051,AK126201,BC037955,BM680217,BX538182,CR616838,DA100320 NP_872309,CAD92490,CAD92491,EAW47867,EAW47868,BAG54295,AAH37955,CAD98054,Q7Z6V4,Q7Z6V5,ACE87213,ACE86534 Hs.709561 DEADC1|DKFZp686L1118|FLJ44213|TAD2|dJ20N2|dJ20N2.1 deaminase domain containing 1|deaminase domain-containing protein 1|tRNA-specific adenosine deaminase 2|tRNA-specific adenosine deaminase 2 homolog|tRNA-specific adenosine-34 deaminase subunit ADAT2 protein-coding 1603369 ADAT3 adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae) 12477932,12457566 113179 NM_138422,AC012615,BC011824,CH471139 NP_612431,AAH11824,Q7Z2S3,Q96EY9,EAW69434,EAW69436,EAW69438 Hs.144980 FWP005|MST121|MSTP121|S863-5|TAD3 OTTHUMP00000206204|tRNA-specific adenosine deaminase 3 homolog|tRNA-specific adenosine deaminase-like protein 3|tRNA-specific adenosine-34 deaminase subunit ADAT3 protein-coding 1606188 ADC arginine decarboxylase 11587527,18330478,17900240,17582600,17558447,16916800,16710414,15670771,15489334,14763899,14738999,14702039,12477932,11853319,19756694,19956990,20147969,20188728 113451 AL020995,CH471059,AB075825,AK057051,AK095127,AK122697,AK315677,AL832640,AY050634,AY050635,AY050636,AY050637,AY050638,NM_052998,AY325129,BC010449,BC028128,CR593091 NP_443724,CAI19353,CAI19354,CAI19355,EAX07469,EAX07470,EAX07471,EAX07472,EAX07473,EAX07474,EAX07475,EAX07476,EAX07477,EAX07478,EAX07479,EAX07480,EAX07481,EAX07482,BAB85531,BAB71356,BAC04489,BAG53674,BAG38042,AAL08049,AAL08050,AAL08051,AAL08052,AAL08053,AAQ62560,AAH10449,AAH28128,Q96A70,ABM82980,ABM86174 Hs.101807 AZI2|KIAA1945|ODC-p|ODC1L ARGDC|ODC antizyme inhibitor-2|ODC-paralogue|OTTHUMP00000004286|antizyme inhibitor 2|arginine decarboxylase|ornithine decarboxylase like|ornithine decarboxylase-like protein|ornithine decarboxylase-paralog protein-coding 1317936 ADCK1 aarF domain containing kinase 1 1580863 15489334,15203218,14702039,12477932,12471243,20877624,16169070 57143 NM_020421,NM_001142545,AC008372,CH471061,AI866496,AK096919,AK126928,AK299430,BC017459,BC058906,BX248292,CD630155,DN996748 NP_065154,NP_001136017,AAF23326,EAW81309,EAW81310,BAG53397,BAG61409,AAH58906,CAD62620,Q86TW2,Q9UIE6 Hs.413208 FLJ39600 aarF domain containing kinase 1 protein-coding 1322312 ADCK2 aarF domain containing kinase 2 20877624,15489334,12853948,12690205,12477932,9110174,8619474 90956 NM_052853,AC006344,AC006452,CH236950,CH471070,AF131745,AY302592,BC014107,CR615064,CR615943 NP_443085,AAD43192,EAL24025,EAW83956,EAW83957,AAP60021,AAH14107,Q7Z695 Hs.725153 AARF|MGC20727 OTTHUMP00000212103|OTTHUMP00000212104|OTTHUMP00000212105|aarF domain containing kinase 2|putative ubiquinone biosynthesis protein AarF protein-coding 1322771 ADCK4 aarF domain containing kinase 4 1580863 12107410,16344560,15489334,14702039,12477932,9110174,8619474,20877624 79934 CA397752,NG_027800,NM_024876,AC010412,CH471126,AF052122,AK022291,AK057199,AU121879,BC013114,BC013884,BC027473,NM_001142555 NP_079152,EAW56987,EAW56988,EAW56989,EAW56990,EAW56991,BAB14004,AAH13114,AAH27473,Q96D53,ABM82617,ABM85800,NP_001136027 Hs.130712 FLJ12229 aarF domain containing kinase 4 protein-coding 1313570 ADCK5 aarF domain containing kinase 5 14702039,12477932,16421571,15489334,20877624 203054 NM_174922,AF205589,CH471162,AK092773,BC031570,BC032402,BC064345,BC085013,BC101659,BC143322,BC143326,BI825038,BM146288,BU845476,CR605986,CR610562,AC233992 NP_777582,EAW82111,EAW82112,EAW82113,EAW82114,BAG52608,AAH31570,AAH64345,AAH85013,AAI01660,Q3MIX3 Hs.283374 FLJ35454|MGC126708 aarF domain containing kinase 5 protein-coding 1350082 ADCP1 adenosine deaminase complexing protein 1 279003 106 1319601 ADCY1 adenylate cyclase 1 (brain) This gene encodes a form of adenylate cyclase expressed in brain. A similar protein in mouse is involved in pattern formation of the brain. [provided by RefSeq] 2312469,1580863 8314585,12626323,19156168,19058789,19029295,17586501,16531006,15361543,15133516,14702039,12853948,12743114,12690205,12503609,12477932,11549699,11299302,8692867,7959689,2121366,10808179,10807185,10089566,11884542,14993377,19726641,19834535,2165385,7937899,8476432,8663304,9417641,20554763 2312469 107 NM_021116,AC069008,AC091439,CH236960,CH471128,AB209496,AF086306,AF497515,AK024415,AK055343,AK095518,AK095665,AL707720,AW956248,BC036858,BC041473,BU181704,CR596735,CR612961,L05500 NP_066939,AAS07467,EAL23741,EAW61042,EAW61043,EAW61044,EAW61045,EAW61046,EAW61047,BAD92733,AAM94372,AAA02907,Q08828,Q59FG4,Q8NFM5 Hs.192215 AC1 3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 1|Ca(2+)/calmodulin-activated adenylyl cyclase|adenyl cyclase|adenylate cyclase type 1|adenylate cyclase type I|adenylyl cyclase 1 protein-coding 737484 ADCY10 adenylate cyclase 10 (soluble) The protein encoded by this gene belongs to a distinct class of mammalian adenylyl cyclase that is soluble and insensitive to G protein or forskolin regulation. It is localized in the cytoplasm and is thought to function as a general bicarbonate sensor throughout the body. It may also play an important role in the generation of cAMP in spermatozoa, implying possible roles in sperm maturation through the epididymis, capacitation, hypermotility, and/or the acrosome reaction. [provided by RefSeq] 2312469 9874775,19093065,19064610,18209474,17591988,16344560,16144836,12958208,12609998,12477932,12475901,11932268,11875252,11423534,10915626,10737962,10446129,9694905,12626323,14993377,19536175,20130594,20379614,2165385,7937899,8663304,9417641 2312469 55811 NM_018417,CH471067,Z99943,AF176813,AF271058,AF299350,AF331033,AK302884,AK310395,AK310531,AL035122,BC117366,BC117372,DB063660,NG_016139,NM_001167749,Z97876 NP_060887,EAW90804,EAW90805,EAW90806,EAW90807,CAI20146,CAI20147,AAF65931,AAF74296,AAK96045,AAL57036,BAG64062,CAA22684,AAI17367,AAI17373,Q96PN6,CAI20073,CAI20074,NP_001161221 Hs.320892 HCA2|RP1-313L4.2|SAC|SACI|Sacy 3',5'-cyclic AMP synthetase|AH-related protein|ATP pyrophosphate-lyase|OTTHUMP00000032526|adenylate cyclase type 10|germ cell soluble adenylyl cyclase|hsAC|testicular soluble adenylyl cyclase|testicular soluble adenylyl cyclase (SAC) protein-coding 734219 ADCY2 adenylate cyclase 2 (brain) This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq] 1298711,1580863,1300048,2312469 1427768,19156168,18519826,16344560,15489334,14702039,12503609,12477932,11549699,11299302,10470851,9268375,9110174,8692867,8619474,7959689,10808179,10807185,10089566,11884542,20664520,12626323,14993377,20379614,2165385,7937899,8663304,9417641 1298711,2312469 108 NM_020546,AC010346,AC010437,AC024577,AC093305,AC113366,CH471102,CS072119,AB028983,AF070583,AF410885,AK123013,AK127036,AK294555,AK295531,AK299775,AK304041,AK307474,BC111743,BE677757,BK000372,CR749634,DB029098,DB481853,L21993,X74210 NP_065433,EAX08097,CAI93390,BAA83012,AAC28647,AAP97285,BAG53849,BAH11807,BAG58443,BAG61658,BAG64952,AAI11744,DAA00058,CAH18428,AAA64923,CAA52282,Q08462,Q71UM8,Q7RTV6 Hs.481545 AC2|FLJ16822|FLJ45092|HBAC2|KIAA1060|MGC133314 3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 2|adenylate cyclase II|adenylate cyclase type 2|adenylate cyclase type II|adenylyl cyclase 2|type II adenylate cyclase protein-coding 732499 ADCY3 adenylate cyclase 3 This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. [provided by RefSeq] 1580863,2312469,70798,704368 20935630,15815621,15489334,14702039,12782409,12623444,12503609,12477932,12122055,11549699,11299302,11162902,9768837,9628581,8798667,8476432,8034296,7959689,10808179,10807185,10089566,11884542,9920776,18391951,17895882,17586501,17581954,16344560,16303743,12626323,14993377,19576885,20201924,2165385,7937899,8663304,9417641,21042317,21079816 2312469,70798,704368 109 NM_004036,AC012073,CH471053,AB011083,AF033861,AK027857,AK075424,AK095173,AK122926,BC020148,BC126235,BC144119,DA864173 ADR83435,NP_004027,AAY14787,EAX00739,EAX00740,EAX00741,BAA25437,AAD13403,BAG51385,BAC11613,BAG52998,BAG53802,AAI26236,AAI44120,O60266,Q8NBM1 Hs.727540 AC3|KIAA0511 AC-III|ATP pyrophosphate-lyase 3|OTTHUMP00000201145|adenylate cyclase type 3|adenylate cyclase type III|adenylate cyclase, olfactive type|adenylyl cyclase 3|adenylyl cyclase, type III protein-coding 736108 ADCY4 adenylate cyclase 4 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. [provided by RefSeq] 1580863,1300048,2312469 15489334,14702039,12503609,12477932,11549699,11299302,11055432,7959689,7766992,10808179,10807185,10089566,11884542,12626323,14993377,17081159,2165385,8663304,9417641 2312469 196883 NM_139247,AL096870,CH471078,AF086230,AF088070,AF497516,AK056745,AK122714,AK126468,AK131333,BC015982,BC027943,BC117473,BC117475,BC143947,BX248285,BX537489,NM_001198568,NM_001198592 NP_640340,EAW66023,EAW66024,EAW66025,EAW66026,EAW66027,EAW66028,AAM94373,BAB71270,BAG53686,BAC86560,BAD18492,AAH15982,AAI17474,AAI17476,CAD62613,Q6ZN83,Q6ZTM6,Q86TZ7,Q8NFM4,Q96KY6,NP_001185497,NP_001185521 Hs.443428 AC4 ATP pyrophosphate-lyase 4|OTTHUMP00000164788|adenylate cyclase type 4|adenylate cyclase type IV|adenylyl cyclase 4 protein-coding 736882 ADCY5 adenylate cyclase 5 ADCY5 belongs to the adenylate cyclase (EC 4.6.1.1) family of enzymes responsible for the synthesis of cAMP (Ludwig and Seuwen, 2002 [PubMed 12503609]).[supplied by OMIM] 1300048,2315006,2312469,2315004 17110384,16973443,16641997,14702039,12604604,12503609,11299302,10481931,9748257,9275169,9268375,8206971,8034296,7759492,10808179,10807185,10089566,11549699,11884542,12626323,14993377,20081857,20081858,20372150,20419449,20490451,2165385,8663304,9417641,20571754,19783621,20231277,20484983,20889853,21115086 2315006,2312469,2315004 111 NM_183357,AC025571,AC112503,CH471052,AF497517,AK093840,AK098381,AK124691,BK000371,BX647739,U65473,AK294565,AK302711,AK303070,AK316488,NM_001199642 NP_899200,EAW79450,AAM94374,BAG52770,BAG54070,DAA00057,AAD00121,O95622,AAI56218,BAH11813,BAH13787,BAH13892,BAH14859,NP_001186571 Hs.593293,Hs.655144 AC5 ATP pyrophosphate-lyase 5|OTTHUMP00000215641|OTTHUMP00000215642|OTTHUMP00000215643|adenylate cyclase type 5|adenylate cyclase type V|adenylate cyclase, type V|adenylyl cyclase 5 protein-coding 735837 ADCY6 adenylate cyclase 6 This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants. [provided by RefSeq] 1580863,1300048,2312469,2312654,2313211,2315006,2315004,2312656 19007881,18936250,17916776,17110384,17007567,16973443,16885208,16713569,16631311,15489334,15470083,15302935,14871025,12782409,12748066,12503609,12477932,12168954,11549699,11299302,11162902,10978539,10481931,9920805,9455477,9388262,9373149,9228084,8125298,8034296,7959689,10808179,10807185,10089566,11884542,12626323,14993377,19546162,2165385,7937899,8663304,9417641,17081159,20732959 2312469,2312654,2313211,2315006,2315004,2312656 112 NM_020983,NM_015270,AC117498,AF250227,CH471111,AB007882,AF250226,AK225224,AK294446,BC064923,BF511227,BX537664,U65474 NP_066193,NP_056085,AAF82479,EAW58001,EAW58002,BAA24852,AAF82478,BAG57685,AAD00122,O43306,Q6LCE1,Q9NR74 Hs.525401,Hs.694408 AC6|DKFZp779F075|KIAA0422 ATP pyrophosphate-lyase 6|adenylate cyclase type 6|adenylate cyclase type VI|adenylyl cyclase 6|ca(2+)-inhibitable adenylyl cyclase protein-coding 735780 ADCY7 adenylate cyclase 7 This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. [provided by RefSeq] 1298709,1580863,2312469 7860067,19008230,18541530,17135423,16344560,15581358,15489334,14702039,12503609,12477932,12454008,11665607,11299302,9034014,7584028,7584026,10808179,10807185,10089566,11884542,11113152,12626323,14993377,17760784,19874574,2165385,7937899,8663304,9417641 1298709,2312469 113 NM_001114,AC007597,CH471092,AK093706,BC039891,BC098566,BC126271,BC144120,BM543987,BU631614,CR625611,D25538,DA047753 NP_001105,EAW82753,EAW82754,EAW82755,BAG52752,AAH39891,AAI26272,BAA05021,P51828,Q86YI0 Hs.513578 AC7|FLJ36387|KIAA0037 ATP pyrophosphate-lyase 7|OTTHUMP00000164225|adenylate cyclase type 7|adenylate cyclase type VII|adenylyl cyclase 7 protein-coding 733733 ADCY8 adenylate cyclase 8 (brain) Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq] 1300048,2312469,1580863 8163524,12626323,8076676,19171672,19156168,19029295,18480272,18163389,17586501,16613843,16258073,12890691,12503609,12477932,11457491,11299302,11076863,10075700,1715695,1427768,10808179,10807185,10089566,11884542,14993377,19691954,20379614,2165385,7937899,8476432,8663304,9417641,20677014,20410303,21116278,20675917 2312469 114 NM_001115,AC011974,AC037453,AC087341,AC103726,CH471060,DQ104739,DR003657,M83533,Z35309 NP_001106,EAW92135,AAZ13596,AAA35523,CAA84552,P40145,Q4F7X0,AAI11457 Hs.591859 AC8|ADCY3|HBAC1 ATP pyrophosphate-lyase 8|adenylate cyclase type 8|adenylate cyclase type VIII|adenylyl cyclase 8|adenylyl cyclase-8, brain|ca(2+)/calmodulin-activated adenylyl cyclase protein-coding 1312370 ADCY9 adenylate cyclase 9 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq] 1580863,2312469,1358365 9628827,19156168,16344560,15879435,14996950,12972952,12503609,12168954,12082561,11840511,11299302,9628581,8662814,10808179,10807185,10089566,11884542,14702039,20101707,20157112,20935630,12477932,12626323,14993377,20175803,20459687,20522523,2165385,7937899,8663304,9417641 2312469,1358365 115 NM_001116,NG_011434,AC005736,AY028959,CH471112,AB011092,AF036927,AJ133123,AU141090,AW518323,BC068612,BC136657,BC136658,BC151207,BC151229,BI770493,DQ005545,DQ008441,AK022108,BQ614080 NP_001107,AAK29464,EAW85331,EAW85332,BAA25446,AAC24201,CAB65084,AAI36658,AAI36659,AAI51208,AAI51230,AAY21237,AAY27880,O60503 Hs.391860,Hs.610484 AC9|FLJ12046 ATP pyrophosphate-lyase 9|adenylate cyclase type 9|adenylate cyclase type IX|adenylyl cyclase 9|type IX ATP pyrophosphate-lyase protein-coding 732730 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) This gene encodes adenylate cyclase activating polypeptide 1. Mediated by adenylate cyclase activating polypeptide 1 receptors, this polypeptide stimulates adenylate cyclase and subsequently increases the cAMP level in target cells. Adenylate cyclase activating polypeptide 1 is not only a hypophysiotropic hormone, but also functions as a neurotransmitter and neuromodulator. In addition, it plays a role in paracrine and autocrine regulation of certain types of cells. This gene encodes three different mature peptides, including two isotypes, a shorter form and a longer form. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863,1300256,2325295,2315956,2325258,2325308,2325255,2315964,2325309,2325314,2325306,2325298 20500521,2302217,16805430,1730060,10698193,16939974,19470168,19269029,19120039,19086053,18782879,18353507,18349695,17962362,17470806,17430174,17387318,17175032,16888207,16697281,16687279,16493055,16226889,16148159,15834139,15518890,15489334,15356166,20675276,15048918,15036651,12948842,12754213,12716746,12686458,12573802,12504599,12477932,12429744,12417650,12409225,12409223,12145407,11972030,11968092,11713978,11515750,11350957,10921074,10583729,10562300,9313778,8504103,8394765,8353512,8253796,8146174,8012384,1739432,1483839,1335692,20034524,17431645,18240029,19701709,19712974,19914336,19926922,20072116,20133634,20180986,20414143,20468064,7680413,20554694,12036966,20671407,18577758 1300256,2325295,2315956,2325258,2325308,2325255,2315964,2325309,2325314,2325306,2325298 116 NM_001099733,NM_001117,AP000894,AY592943,AY592948,CH471113,X60435,Z64808,AK294233,AK313050,BC093837,BC101803,CR603595,DC320719,DN991692,S83513 NP_001093203,NP_001108,AAT92256,AAT92261,EAX01706,CAA42962,BAH11708,BAG35881,AAH93837,AAI01804,AAB21470,P18509,Q53BH1,Q53BH6 Hs.531719 MGC126852|PACAP OTTHUMP00000162201|adenylate cyclase activating polypeptide 1|pituitary adenylate cyclase-activating polypeptide 2314813 INSUL28_H protein-coding 736792 ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Alternative splicing of two exons of this gene generates four major splice variants, but their full-length nature has not been determined. [provided by RefSeq] 1580863,2315956,2315964 16805430,16939974,7902709,19269029,19086053,18353507,17470806,16888199,16823490,16572459,16401644,16372333,16226889,15670850,15518890,14742913,12948842,12732341,12690205,12573802,12477932,12409233,12409223,11959368,11930171,10764955,10698193,10583729,10562300,10235634,9543159,8954788,8933357,8770902,8703026,8663363,8253796,7851900,20395540,20026142,18240029,19926922,12036966,18577758,16344560 2315956,2315964 117 BC143679,D17516,AACC02000087,AB065700,AC006466,CH471073,U09216,AI815550,AK226138,AK290046,AY366498,AY462278,AY462279,AY495951,AY495952,BC117116,BC136267,NM_001118,CA432770,DA809763,NM_001199635,NM_001199636,NM_001199637 AAI43680,BAA04466,P41586,Q17S10,Q6RKA2,Q6RKA3,Q6S991,Q6S992,NP_001109,EAL24444,BAC05923,EAW93978,AAA19323,BAF82735,AAQ72806,AAR26314,AAR26315,AAR87870,AAR87871,AAI17117,AAI36268,NP_001186564,NP_001186565,NP_001186566 Hs.377783 PAC1|PACAPR|PACAPRI OTTHUMP00000202503|OTTHUMP00000202504|OTTHUMP00000202505|PACAP type I receptor|PACAP-R-1|PACAP-R1|adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1|adenylate cyclase activating polypeptide 1 receptor 1|pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop|pituitary adenylate cyclase-activating polypeptide type I receptor protein-coding 733925 ADD1 adducin 1 (alpha) Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq] 1298717,1302895,631736,1331525,1624953,1580863,1559299 7642559,16289097,3693401,8626479,10823823,19274077,19263529,19247266,19243623,19238444,19242491,19199261,19166692,19148102,19145770,19145769,19131662,19103106,19057513,19047752,18977990,18800139,18787518,18679149,18667944,18660489,18657677,18591455,18524856,18513389,18475162,18458162,18413308,18398333,18393230,18003973,17984662,17921817,17825147,17765140,17472579,17452507,17301826,17267840,17215849,17189961,17083073,17082469,17081983,17051589,17003363,16970091,16724011,16702981,16615274,16612256,16531798,16497648,16450155,16420563,16392768,16314886,16266470,16100725,16080807,16043664,15910744,15834281,15824464,15822905,15815621,15773232,15716695,15608390,15554870,15493144,15378162,15326084,15302935,15187197,15110895,15097233,15059531,15055253,15039125,14733918,14643575,14553962,14530292,14508192,13679477,12885793,12697976,12427140,12394950,12195119,12195118,12172317,12623934,12477932,12107246,12082592,12052841,11926892,11918988,11918733,11882573,11847182,11775124,11728946,11711521,11528213,11518842,11447495,11283377,11116113,11110979,10950304,10585876,10516168,10391210,10209029,9679146,9674650,9149697,8946164,8810272,8663089,7959767,7774961,7490111,3600811,2976282,1840603,1345173,1284592,19443911,19479237,19559392,19567882,19574959,19620885,19729965,19779330,19779464,19838659,19960031,20145305,20160191,20237496,20473689,19913121,20536507,20565774,20577119,20628086,20667857,17074803,20838486,20877298,20927398,20929695 1298717,1302895,631736,1331525,1624953,1559299 118 NM_176801,NM_014189,NM_014190,NM_001119,NG_012037,AL121750,AL390065,BX465861,CH471131,L29296,Z68280,Z74617,AK025413,AK295457,AK298523,AK309186,BC013393,BC042998,CR594983,CR611875,CR618963,CR936693,D44632,L07261,S70312,S70314,X58141 NP_789771,NP_054908,NP_054909,NP_001110,CAM21297,CAM21298,CAM21299,CAM25273,CAM25274,CAM25275,EAW82498,EAW82499,EAW82500,EAW82501,EAW82502,EAW82503,EAW82504,EAW82505,AAB05645,CAI95603,CAA98970,BAG58391,BAG60726,AAH13393,AAH42998,AAB30913,AAB30914,CAA41149,P35611,Q16155,Q4TT76,Q86XM2,Q96D30,CAM28230,CAM28231,CAM28232 Hs.183706 ADDA|MGC3339|MGC44427 OTTHUMP00000151163|OTTHUMP00000151164|OTTHUMP00000151165|OTTHUMP00000218664|OTTHUMP00000218665|adducin 1, alpha|alpha-adducin|erythrocyte adducin alpha subunit|erythrocyte adducin subunit alpha protein-coding 736575 ADD2 adducin 2 (beta) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Various adducin beta mRNAs, alternatively spliced at 3'end and/or internally spliced and encoding different isoforms, have been described. The functions of all the different isoforms are not known. [provided by RefSeq] 1298717,1625293,1331525,1300257,1580863 7642559,3693401,8626479,18959617,18787518,18667944,18003638,17854487,17301826,16497648,16116087,16105548,15963851,15834281,15815621,15716695,15528469,15489334,15345747,15146197,14553963,14517477,12951058,12653680,12477932,12427140,11526103,10485892,9679146,9244430,8810272,8566798,8563174,7999065,7707875,7490111,1840603,16344560,19838659,20379614,8889549,19913121,20628086 1298717,1625293,1331525,1300257 119 BC041666,BC051882,BC056881,BC065525,CN428088,CR590670,U43959,NM_017488,NM_017482,AC005234,AC007395,AF001597,CH471053,NM_001617,S81079,S81083,AB209227,AF486420,AF486421,AF486422,AF486423,AK291007,AK297250,AK309773,BC008709,BC010237,BC011416,BC027876,BX119247,DA501584,N53078,NM_001185054,NM_001185055 AAH41666,AAH51882,AAH56881,AAH65525,AAA86421,P35612,Q05DK5,Q96HD4,NP_001608,NP_059522,NP_059516,AAD12715,EAW99798,EAW99799,EAW99800,EAW99801,EAW99802,EAW99803,EAW99804,EAW99805,EAW99807,EAW99808,AAD14349,BAD92464,AAP71863,AAP71864,AAP71865,AAP71866,BAF83696,BAG59729,AAH08709,AAH10237,EAW99806,NP_001171983,NP_001171984 Hs.188528 ADDB OTTHUMP00000203377|OTTHUMP00000203378|OTTHUMP00000203909|OTTHUMP00000203961|adducin 2, beta|beta adducin|beta-adducin|erythrocyte adducin subunit beta protein-coding 735411 ADD3 adducin 3 (gamma) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq] 1300354,1300258,1580863,2317717 8893809,18787518,18667944,18475162,17081983,15963851,15834281,15716695,15561718,15489334,12477932,11895774,10581174,10485892,9373149,8125298,2503523,20460270,16385451,20379614,19913121,20628086 1300354,1300258,2317717 120 NM_019903,NM_016824,NM_001121,AL162613,AL590628,CH471066,Y14372,AB209810,AK130789,AK223270,AK291488,AL600737,BC021694,BC043143,BC057285,BC062559,BI544596,BX647403,BX647442,BX648016,CF457028,D67031,EF553523,U37122 NP_063968,NP_058432,NP_001112,CAH71739,CAH71740,EAW49571,EAW49572,EAW49573,EAW49574,CAB51805,CAB51806,BAD93047,BAD96990,BAF84177,AAH62559,CAI46048,BAA23783,AAB17126,Q53FL4,Q59EK1,Q5VU08,Q9UEY8 Hs.501012 ADDL adducin 3, gamma|adducin-like protein 70|gamma-adducin protein-coding 1352182 ADFN albinism-deafness syndrome 122 730882 ADFP adipose differentiation-related protein Adipocyte differentiation-related protein is associated with the globule surface membrane material. This protein is a major constituent of the globule surface. Increase in mRNA levels is one of the earliest indications of adipocyte differentiation [provided by RefSeq] 1625752,1580863 9003395,19054096,18832575,18827892,18606814,18393390,18188946,17927964,17620659,17446422,17322100,17200350,16936283,16884492,16808905,16489205,16391323,16230742,15545278,15489334,15336557,14707038,14671211,12591929,12477932,12387890,12114189,9799447,1518805,15136565,19169702,19351497,19602560,19638644,19843633,19851831,20032580,20118912,20143336 1625752 123 CR615308,CR618768,CR605429,CR620358,CR624951,X97324,AL591206,CH471071,AF443203,AK296125,AK297920,AK312983,BC005127,BE311586,CR536541,CR592339,CR597463,CR600009,CR600234,NM_001122 CAA65989,Q5SYF3,Q5SYF5,Q6FHZ7,Q99541,ABM83903,ABM87224,NP_001113,CAI12265,CAI12266,CAI12267,CAI12268,EAW58648,EAW58649,EAW58650,EAW58651,AAL35614,BAG58871,BAG60238,BAG35820,AAH05127,CAG38778 Hs.3416 ADFP|ADRP|MGC10598 adipophilin|adipose differentiation-related protein|perilipin-2 protein-coding 1349763 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide This gene encodes class I alcohol dehydrogenase, alpha subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. This gene is monomorphic and predominant in fetal and infant livers, whereas the genes encoding beta and gamma subunits are polymorphic and strongly expressed in adult livers. [provided by RefSeq] 1580863 12050823,16712791,11329013,9982,16153155,2347582,19343046,19193628,19124506,18828806,18510611,18331377,17632320,17185388,16685648,15489334,15279067,14634838,12477932,12392591,12081471,11356310,11303599,10424757,3013304,3006456,2935875,2920825,2737681,2169444,1620113,19526455,19618839,19687126,19874574,19913121,20628086,20634891,20872569 124 NM_000667,AC097530,AY948115,CH471057,M32656,M37066,AK290558,AK309597,BC074738,BC117442,BC126306,BT019812,M12271,M12963,BG199182,CB116632 NP_000658,AAX20115,EAX06093,EAX06094,AAA52276,AAA51591,BAF83247,AAH74738,AAI17443,AAI26307,AAV38615,AAA68131,AAA51590,P07327 Hs.654433 ADH1 ADH, alpha subunit|alcohol dehydrogenase 1 (class I), alpha polypeptide|alcohol dehydrogenase 1A|alcohol dehydrogenase subunit alpha|aldehyde reductase protein-coding 1348288 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq] 1580863 9982,2398055,19618839,19527514,19486361,19469618,19449376,19420105,19403456,19365573,19343046,19339270,19298323,19262484,19250143,19193628,19185835,19164089,19124506,19124091,19094228,19068087,19019335,18996923,18936436,18818748,18784359,18782342,18773092,18763293,18761854,18715275,18516948,18510611,18500343,18439068,18382665,18336671,18336668,18331377,18322963,18299763,18266839,18254707,18216179,18078815,18056758,18049455,18033686,17963305,17923853,17885622,17850643,17847010,17762315,17631643,17618743,17559546,17517051,17515815,17489985,17486761,17471563,17454860,17421009,17295732,17293864,17292341,17289126,17285601,17279314,17268812,17250612,17207821,17185388,17180580,17134660,17134659,17071628,17036331,16970620,16958672,16930209,16822169,16758956,16737450,16702384,16685648,16608143,16600530,16520888,16440362,16423594,16404797,16385179,16358724,16332725,16324524,16309369,16307179,16235983,16184481,16163053,16135443,16127737,16117582,16086315,16078602,16006997,15957670,15902904,15886702,15863807,15842823,15597094,15542751,15534263,15519646,15511718,15489334,15456134,15342556,15327835,15318112,15318096,15220553,15162847,15084894,14768474,14745297,14693654,14634838,12915519,12915514,12884000,12824748,12777946,12713190,12710951,12668919,12658118,12554615,12545748,12519453,12517056,12505800,12477932,12461493,12452180,12419833,12351924,12244546,12213289,12211622,12189549,12173598,12153842,12089173,12081471,12080432,11966948,11781511,11781503,11748356,11696658,11584144,11410735,11398342,11274460,11259352,11238183,11117576,11051375,10733556,10424757,8663387,8201622,6391920,6374651,3619918,3397059,3006456,3000832,2986130,2935875,2935533,2737681,2679216,2547609,2347582,2295648,2210383,2169444,1896463,19452585,19550411,19655364,19667493,19687126,19698717,19706845,19751749,19769429,19799139,19812523,19826048,19860798,19861527,19874574,19887496,19898482,19948975,20010786,20025435,20031627,20077761,20101753,20169287,20171022,20180859,20205700,20219057,20336794,20357489,20401433,20403997,20437850,20477764,20477767,20494945,19913121,20568895,20598484,20628086,20634891,20685249,20806441,20833657,20140262,20700531,21048924 125 NM_000668,NG_011435,AC097530,AF040967,DQ017646,L38290,M24308,M24316,M32657,X15447,AF153821,AI702614,AK299409,AK301018,AK303945,AK304396,AK316501,BC033009,BP317995,BX641105,BX647469,D00137,M21692,M24317,X03350,CH471057 AAB96912,NP_000659,EAX06095,EAX06096,EAX06097,EAX06098,AAY22180,AAB48003,AAB59496,AAA52277,CAA33487,AAD37446,BAG61391,BAG62635,BAG64873,BAG65231,BAH14872,AAH33009,BAA00084,AAA51592,AAA51884,CAA27056,P00325 Hs.4 ADH2|DKFZp686C06125 ADH, beta subunit|alcohol dehydrogenase 1B|alcohol dehydrogenase 2 (class I), beta polypeptide|alcohol dehydrogenase subunit beta|aldehyde reductase protein-coding 1344246 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq] 1580863,1559302,2325313 2935875,6391921,19343046,19339270,19193628,19189524,19124506,19120062,19068087,19038239,19019335,18996923,18936436,18846501,18818748,18773092,18761854,18676680,18510611,18331377,18268116,18266839,18254707,18043297,17923853,17885622,17665311,17631643,17629074,17563066,17559142,17543846,17517051,17454860,17449906,17421009,17379229,17295732,17285601,17268812,17185388,17134660,17071628,17018785,16930209,16801984,16758956,16737450,16685648,16675441,16600530,16440362,16415175,16344274,16287084,16239350,16184481,16132793,16117582,16086315,16051248,16039674,16018848,15941567,15910847,15902904,15897724,15863807,15842377,15767341,15734975,15643610,15642852,15519646,15511718,15489334,15375565,15370874,15327835,15318112,15220553,15138216,14745297,14732773,14726542,14693654,14691069,14634838,14608084,12915519,12884000,12782305,12750236,12713190,12710951,12668919,12658118,12631283,12554615,12517056,12505800,12500098,12477932,12376487,12173598,11966948,11802217,11752857,11748356,11740346,11700261,11696658,11303599,11274460,11207350,11159741,11051375,11045794,10424757,10405330,8201622,7771649,3758060,3397059,3006456,2737681,2347582,2169444,1896463,1524834,9982,15654505,16712791,19170196,19447389,19486361,19527514,19550411,19581569,19618839,19625176,19692168,19812523,19861527,19874574,19887496,19898482,19948975,20031627,20101753,20169287,20171022,20180013,20205700,20350778,20357489,20401433,20437058,20437850,20448861,20453000,20477767,20494945,6391957,19913121,20568895,20615890,20628086,20634891,20810466,20700531 1559302,2325313 126 BC074786,CB114902,M12272,X04299,X04350,NG_011718,AC097530,AF031832,CH471057,D11067,DQ088981,M32658,BC062476,BC066227,BC066228,BC067419,BC067420,BC067421,BC067422,BC074771,NM_000669 AAH74771,AAH74786,AAC41757,CAA27842,CAA27876,P00326,Q71V49,NP_000660,AAC05739,EAX06099,EAX06100,BAC06856,AAY68222,AAA52278,AAH62476,AAH66227,AAH66228,AAH67419,AAH67420,AAH67421,AAH67422 Hs.654537 ADH3 ADH, gamma subunit|OTTHUMP00000220209|alcohol dehydrogenase 1C|alcohol dehydrogenase 3 (class I), gamma polypeptide|alcohol dehydrogenase subunit gamma|aldehyde reductase protein-coding 735489 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq] 1580863,1300048 10407146,15369820,3466164,16787387,19343046,19193628,19182438,18996923,18801187,18331377,17069770,16237392,16220108,15863808,15489334,14745297,12631290,12477932,11997393,11964133,11916005,11900616,11752456,11279029,11009184,9570155,8032153,3036213,1889753,1362387,19687126,19861527,19874574,19898482,19925625,20363298,20453000,18029348,20800603,20626721,20634891,17207965 127 NM_000670,AC019131,AP002026,AY974245,CH471057,X56411,X56419,AK290835,AK295556,AK313649,AV659364,BC022319,M15943 NP_000661,AAX59034,EAX06088,EAX06089,CAA39813,BAF83524,BAG58459,AAH22319,AAA51595,P08319,ADQ32176 Hs.1219 ADH-2 OTTHUMP00000219912|OTTHUMP00000220033|alcohol dehydrogenase 4|alcohol dehydrogenase class II pi chain|aldehyde reductase protein-coding 1351578 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq] 1580863 2679557,20308539,8460164,6375718,19165527,18996923,18636124,18331377,18095160,17543375,17185388,16685648,15489334,14608084,12484756,12477932,12196016,12141816,12004059,10978156,10661511,9018047,8503936,8494891,7948423,6424546,3365377,2936344,2934732,2818582,1453005,1446828,16169070,19514054,19596685,19874574,19898482,20158305,20335826,20371487,20634891,20677014,20819778 128 AC019131,AY987960,CH471057,M81112,M81118,AK129570,AK226177,AK312367,BC014665,BC070491,BQ881561,BT019832,BT019833,NM_000671,CR536491,CR541689,CR590837,CR592134,CR593976,CR598204,CR603698,CR606065,CR616221,CR617310,CR619952,CR622943,CR625434,CR625527,M29872,M30471 NP_000662,AAX81412,EAX06084,EAX06085,EAX06086,AAA51596,BAG35285,AAH14665,AAH70491,AAV38635,AAV38636,CAG38730,CAG46490,AAA51597,AAA79018,P11766,Q5U043,Q6FI45,Q6IRT1 Hs.78989 ADH-3|ADHX|FDH|GSNOR FALDH|GSH-FDH|S-(hydroxymethyl)glutathione dehydrogenase|alcohol dehydrogenase (class III), chi polypeptide|alcohol dehydrogenase class chi chain|alcohol dehydrogenase class-3|alcohol dehydrogenase class-III|formaldehyde dehydrogenase|glutathione-dependent formaldehyde dehydrogenase protein-coding 1344715 ADH5P1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 1446828 129 1342585 ADH5P2 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 2818582 343296 NG_008685,AL606527 pseudo 1352662 ADH5P3 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 2818582,2294756 100131810 NG_008686,AL359918 pseudo 1342497 ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 16201836,2818582,20800603 642443 NG_008303,AL391500,DQ120656 ABB92441,Q2VIM7 ADH5B|RCADH5|bA707M13.2 pseudo 1314863 ADH6 alcohol dehydrogenase 6 (class V) This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7695785,2198032,1881901,1755855,1593644,19343046,17185388,16685648,14702039,12477932,12050823,11095947,10975466,19698717,19874574,20819778 130 NM_000672,AP002026,AY962311,CH471057,M84402,M84409,AJ278908,AK092768,AK298290,AK316326,BC039065,NM_001102470 Q8IUN7,Q9H1A0,NP_001095940,NP_000663,AAX44051,EAX06090,EAX06091,AAA35509,CAC10399,BAG52607,BAG60550,BAH14697,AAH39065,P28332 Hs.586161 ADH-5 OTTHUMP00000161648|OTTHUMP00000220107|alcohol dehydrogenase 6|aldehyde reductase protein-coding 737541 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. [provided by RefSeq] 1580863 7876099,9600267,9228021,11997393,19343046,19193628,18500343,18331377,18231859,17921519,17918242,17486761,17185388,16685648,16180008,15456134,14502680,9373149,8824810,8195208,8125298,8082805,8074657,7925371,7876191,7771649,1592118,10631979,12477932,15028279,16344560,19609347,19687126,19861527,19874574,19898482,20158305,20336794,8889548,20700531,20800603,10969996,11410738 131 AP001960,CH471057,L47166,U16286,U16293,AK223472,AK301657,AK301696,AK310811,AK312854,BC131512,BX476080,CD697521,L33179,NM_000673,S77168,U07821,U09623,X76342,CA311897,CD014081,DB204496,DB350054,NM_001166504 NP_000664,EAX06101,AAB38424,AAC51351,BAG63133,BAG63168,BAG35707,AAI31513,AAA59211,AAB34478,AAA19002,AAA82165,CAA53960,CAA53961,P40394,NP_001159976 Hs.389 ADH-4|ADH4 OTTHUMP00000214819|OTTHUMP00000214821|alcohol dehydrogenase VII|alcohol dehydrogenase class 4 mu/sigma chain|alcohol dehydrogenase class IV mu/sigma chain|alcohol dehydrogenase-7|class IV sigma-1 alcohol dehydrogenase|class IV sigmasigma alcohol dehydrogenase|gastric alcohol dehydrogenase|retinol dehydrogenase protein-coding 1318880 ADHFE1 alcohol dehydrogenase, iron containing, 1 The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM] 1580863 16712791,16435184,19013439,16616524,15221005,14702039,12592711,12477932,20877624 137872 NM_144650,AC009879,CH471068,AB075879,AK056992,AK293530,AK294114,AK300243,AK300881,AY033237,BC047492,BC064634,BC110290,BE241883,BG698892,BQ182872,CB157325 NP_653251,EAW86901,EAW86902,EAW86903,EAW86904,EAW86905,EAW86906,EAW86907,BAD38661,BAB71335,BAG57012,BAG57448,BAG62010,BAG62523,AAK44223,AAH64634,Q8IWW8 Hs.720023 ADH8|FLJ32430|HMFT2263|HOT|MGC48605 Fe-containing alcohol dehydrogenase 1|OTTHUMP00000211260|alcohol dehydrogenase 8|alcohol dehydrogenase iron-containing protein 1|hydroxyacid-oxoacid transhydrogenase, mitochondrial protein-coding 1602478 ADI1 acireductone dioxygenase 1 16344560,19626614,20379614,17207965,15938715,14718544,11602742,17786183,17212658,15815621,15489334,15221005,14702039,12477932,9373149,8125298,17353931,16712791 55256 AC231981,CB129674,DA559726,CR603459,NM_018269,AC114810,AC142528,AB073609,AB158319,AF087863,AF403478,AK001775,AK127473,AK222467,AK225278,BC001467,CR592882,CR593705,CR595221,CR595303,CR595663,CR598608,CR602689,CH471053,CR604038,CR604779,CR605242,CR607574,CR609057,CR611145,CR617197,CR624357,CR624573,CR625343,FB342953,FB711076 NP_060739,AAY24022,AAX82038,EAX01064,EAX01065,BAD38646,BAD10866,AAP97173,AAL25800,BAA91901,BAC86996,BAD96187,AAH01467,ADQ33221,Q9BV57,CAR81477,CAS91493 Hs.502773 APL1|ARD|FLJ10913|HMFT1638|MTCBP-1|MTCBP1|SIPL 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase|MT1-MMP cytoplasmic tail-binding protein-1|membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1|submergence induced protein 2 protein-coding 1606699 ADIG adipogenin ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM] 15567149,16132694,12477932 149685 NM_001018082,AL035419,CH471077,AA974242,BC029594,BC119704,BC119705,BX105371,HC044655 NP_001018092,CAI19166,CAM27454,EAW76017,AAI19705,AAI19706,Q0VDE8,Q5TG32,ABM82428,ABM85620,AAH29594,CBH30657 Hs.368028 KIAA1219|MGC149650|MGC39724|RP5-1100H13.2|SMAF1 adipogenesis associated|adipogenin|small adipocyte factor 1 (SMAF1) protein-coding 1351472 ADIPOQ adiponectin, C1Q and collagen domain containing This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. [provided by RefSeq] 1642458,1642395,2313239,2313230,2313236,1599133,1599139,1599144,1599145,1599146,1599149,1599150,2313234,2313238 20153676,20179358,20185863,20443850,19086185,19085030,19082693,19077438,19074982,19067777,19056609,19056482,19041092,19039084,19037660,19035456,19033408,19031217,19026557,19019483,19013427,19011278,19004538,19003726,18997670,18997620,18996964,18996753,18983522,18979162,18979105,18974768,18958929,18957939,18949681,18946779,18931025,18930040,18854016,18842390,18830896,18828733,18828732,20350696,20442584,20593932,20621019,20643815,20418665,20580627,20703446,21059469,20684825,20819268,21114131,19328242,19650786,19714754,20184866,20385503,19538214,20450790,20583136,19496970,20150891,20376890,20395593,20047566,20345321,20430175,20513355,10604883,18703020,19631916,19606391,19584883,19544118,19543786,19542908,19533865,19506043,19491387,19484180,19481913,19475640,19470634,19453261,19436139,19434763,19430341,19429700,19426893,19426517,19424644,19422999,19420105,19414798,19408174,19376162,19369430,19367093,19359061,19344901,19337790,19328578,19324915,19322011,19282610,19273568,19269196,19267370,19267280,19266101,19265272,19264763,19263799,19261346,19246975,19246322,19244090,12611609,10982546,12021245,10095105,11222466,10961870,19238139,19236311,19233263,19223612,19223200,19219061,19217451,19214966,19202898,19197253,19193342,19190112,19189686,19183842,19181412,19178518,19173941,19169222,19165155,19159917,19154962,19154958,19138981,19131459,19120901,19118830,19116237,19115685,19109202,19107905,19107128,19106268,18799090,18778866,18777458,18776141,18773295,18762168,18753423,18716158,18713296,18712036,18701434,18695734,18694861,18693056,18690350,18680072,18678874,18671144,18670142,18666256,18660489,18650840,18647807,18645733,18827209,18824864,18823886,18823720,18818986,18624608,18622594,18595130,18593824,18591837,18571119,18565022,18563681,18563679,18563283,18562232,18550492,18548168,18547236,18537100,18537097,18523726,18522702,18511746,18511057,18510797,18510435,18506375,18505467,18504547,18498634,18496510,18494805,18492757,18475046,18474846,18469485,18469483,18468820,18465144,18455165,18451143,18446001,18445880,18445670,18442802,18431508,18429970,18425718,18424891,18419742,18414778,18404970,18398047,18390991,18386294,18376301,18362504,18362454,18349107,18347511,18346990,18344634,18339975,18335040,18328815,18319712,18315699,18313838,18311774,18472252,17687539,17686833,17684408,17684226,17679810,17678873,17663805,17652887,15780820,15778860,15769985,15760495,15757860,15757855,15749025,15745931,15743998,15736110,15736103,15735225,15734870,15734793,15701829,15692106,15690190,15684637,15677512,15648019,15618990,15616802,15616040,15616038,15598689,15598678,15590747,15588241,15583845,15563965,15562208,15547300,15544426,15528304,15504979,15502375,15489334,15476445,15454091,15371566,15369797,15340161,15334388,15333487,15331562,15319349,15292348,15292345,15292342,15292306,15277433,15248834,15246202,15239085,15231997,15220253,18299442,18299313,18294218,18292758,18292388,18289773,18288276,18280066,18273754,18267956,18259684,18241619,18239655,18239630,18239579,18239552,18239140,18230834,18230826,18230270,18223631,18222959,18221467,18208577,18202542,18202246,18202126,18198351,18198311,18192541,18191060,18182989,18180052,18179772,18175063,18164019,18163210,18160463,18299467,18159094,18096839,18084018,18071343,18070989,18063927,18059079,18054040,18036314,18021784,18006102,17992641,17992633,17991878,17984573,17984105,17980008,17973869,15209773,15200411,15181044,15178661,15167446,15161804,15132729,15132722,15123570,15116265,15096450,15081415,15070952,15063429,15057675,15055475,15047634,15044670,15010338,15001632,14988295,14983034,14961165,14766203,14764792,14752031,14749263,14747242,14747205,14739054,14733921,14718574,14715850,14715832,14699128,14693717,14681833,14675060,14673476,14671185,14671149,14654554,14633820,14633806,14607907,14602778,14557259,14551684,14551151,14522956,14514348,12970275,12944390,12923129,12882843,12878598,12876073,12870165,12860835,12855752,12843170,12832305,12829646,12829629,12827245,12827242,12803245,12802337,12788897,12788878,12788865,12788102,12766104,15210937,12765944,12750819,12736161,12728641,15919796,15905315,15902402,15897668,15897474,15889231,15877296,15877287,15877215,15875155,15864528,15863955,15862282,15855579,15855354,15855264,15850785,15842511,15830179,15803114,15798954,15798948,15797955,15797948,15794918,15793855,17970702,17967974,17966120,17965488,17965293,17949565,17945166,17939853,17939592,17938644,17932317,17923272,17914101,17911635,17903300,17900532,17893004,17890489,17879019,17822721,17786291,17785955,17714716,17712725,17712123,17709916,17706206,17705672,17702846,17697863,12727947,12716750,12713059,12694320,12679491,12679468,12679465,12679444,12679439,12663465,12660878,12660877,12660876,12660875,12634431,12547850,12540592,12517687,12496257,12477932,12473840,12436346,12429873,12388136,15220246,17651832,17651673,17630265,17625082,17624354,17618943,17616856,17611906,17604011,17601884,17585917,17575367,17573060,17562334,17526810,17521614,17505945,17495599,17490776,17486299,17477992,17468256,17465703,17454170,17452504,17445536,17445531,17426101,17426091,17420337,17399685,17389708,17383891,17374708,17357284,17348431,17342473,17335469,17334638,17334513,17332688,17325687,17325257,17322499,17311679,17303804,17287418,17277888,17264850,17264468,17259495,17259488,17241533,17239889,17229078,17222292,17209173,17205522,17192291,17189871,17184143,17178123,17143557,17141242,17123536,17119002,17118479,17113059,17112494,17112391,17095862,17084402,17081797,17080261,17065694,17065691,17065357,17054465,17052201,17033258,17030959,17019599,17011566,17006986,17005524,16995820,16990411,16978998,16955209,16954217,16944773,16939660,16933180,16926524,16921786,16896567,16894363,16891099,16877558,16872712,16864145,16822679,16806559,16804063,16802369,16801926,16801592,16788799,16741355,16735961,16731835,16685053,16678125,16675483,16670304,16648605,16644713,16644690,16631275,16621799,16618984,16609880,16608891,16607383,16586545,16574896,16570162,16567542,16565557,16554029,16552343,16547285,16546285,16545001,16530178,16529829,16525810,16497731,16443793,16443790,16443770,16421345,16419358,16418740,16408269,16407204,16404369,16403434,16380500,16380487,16373895,16358955,16352688,16335909,16331577,16324920,16256387,16254197,16253634,16231017,16210704,16204361,16203766,16170833,16160698,16157772,16140297,16139921,16135012,16123487,16122151,16118250,16115611,16111669,16109902,16106049,16078018,16055459,16039610,16028335,15955133,15942768,15936715,15928248,15926113,15920062,15920060,15919832,15919831,12354786,12153737,12086969,12086965,11912203,11812766,11756320,11700024,11571669,11479627,11162643,10918532,10741683,10403784,9765595,8947845,8631877,8619847,7592907,20010617,20033714,20413520,20552610,19249901,20065611,20142200,20662345,19238142,19095778,18827813,18632660,18472407,18300743,12378384,17669243,19549246,20368216,20375206,20382752,19025443,19032037,19913121,20188864,20530094,20552210,20573249,20576642,20580771,20597906,20628086,20664545,20667095,20679960,20681271,20682687,20685864,20697428,20733583,20802460,20821366,20587319,20734064,20840785,20842437,20848215,20855565,20876611,20878967,20930713,20964254,21044781,21054480,21073447,21082232,21106915,19606374,20215915,20486084,20819416,20564003,20836881,12368907,18579237,18616920,18624998,18710474,18774612,19051043,19081562,19127209,19196212,19217624,19225215,19226262,19288226,19348608,19404197,19473823,19476644,19502655,19519172,19520843,19523465,19524870,19530957,19530958,19542749,19545925,19553931,19556717,19556723,19559018,19560452,19570238,19573164,19578796,19579094,19589139,19590232,19591073,19608729,19617629,19619110,19622782,19640330,19661351,19661719,19672024,19690575,19696691,19714593,19716142,19717956,19723917,19732895,19734573,19747414,19747747,19749490,19755405,19755407,19760027,19761474,19765779,19780028,19789415,19793996,19796779,19797823,19800062,19820029,19821969,19841046,19846176,19855092,19855250,19864294,19874712,19875582,19876004,19883500,19887569,19888587,19893502,19914667,19915520,19918009,19920090,19929617,19929719,19937225,19948975,19960000,20001961,20011104,20018283,20019451,20019673,20020584,20028977,20032495,20035033,20035337,20038928,20045352,20058257,20059631,20067957,20074551,20074612,20075509,20083470,20112400,20114006,20120899,20129487,20142115,20145925,20146878,20150538,20164291,20166815,20186155,20200332,20201642,20201938,20230294,20237168,20306680,20332107,20350970,20384434,20388053,20395949,20414354,20432444,20466332,20492333,20495294,20516205,20528971,20044088,20056223,20096841,20398901,20424361,20424363,20561616,20633033,20712424 1642458,1642395,2313239,2313230,2313236,1599133,1599139,1599144,1599145,1599146,1599149,1599150,2313234,2313238 9370 AB012165,AC072018,AC112907,AJ131459,AJ131460,AJ131461,AJ131462,AJ131463,CH471052,AK291525,AK312868,AL832470,BC054496,BC096308,BC096309,BC096310,BC096311,D45371,EU420013,NM_004797,NG_021140,NM_001177800,HC474937,GM710009 NP_004788,BAA86716,CAB52413,EAW78165,BAF84214,BAG35720,AAH54496,AAH96308,AAH96309,AAH96310,AAH96311,BAA08227,ABZ10942,Q15848,NP_001171271,CBL63519,CAT82843 Hs.725843,Hs.80485 ACDC|ACRP30|ADIPQTL1|ADPN|APM-1|APM1|GBP28|adiponectin 30 kDa adipocyte complement-related protein|OTTHUMP00000210047|adipocyte complement-related 30 kDa protein|adiponectin|adipose most abundant gene transcript 1 protein|adipose specific collagen-like factor|gelatin-binding protein 28 1643508,2289633 BW262_H,BW506_H protein-coding 1344545 ADIPOR1 adiponectin receptor 1 The adiponectin receptors, ADIPOR1 and ADIPOR2 (MIM 607946), serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM] 1331376,1642395,1625761,1625762,1625763,1625764,1625765,1580863 20125105,18988888,12802337,19453261,19233263,19208777,19144434,19120283,19109202,19037660,19010305,18996753,18996102,18982021,18854016,18842004,18827209,18719649,18713296,18660489,18622492,18548168,18466348,18451143,18313838,18310295,18294218,18163210,18097620,17911635,17878241,17716299,17712104,17697862,17459059,17426101,17416799,17285539,17216283,17209173,17123704,17118803,17054465,17006986,17003341,17001470,16955209,16899222,16793963,16724230,16700915,16678125,16622416,16609881,16601138,16505255,16443913,16205883,16139921,16044242,16043761,16023994,15983228,15918014,15757860,15489334,15454091,15331527,15277397,15105989,14702039,14651988,12477932,10810093,9373149,8125298,17207965,20712903,20938443,20952631,20470935,20875820,20696134,19913121,20628086,20682687,20697428,18599322,18923878,19051043,19196212,19524379,19536175,19549705,19631916,19671624,19672024,19723917,19727342,19887569,19909601,19948975,20032495,20059631,20071013,20074551,20120899,20129487,20332107,20432444 1331376,1642395,1625761,1625762,1625763,1625764,1625765 51094 NM_001127687,NM_015999,AC096632,CH471067,AF125179,AF151803,AK001484,AK058114,AK124455,AK222503,AY424279,BC001594,BC010743,BX461217,CR590124,CR593948,CR596346,CR596678,CR597679,CR598544,CR599027,CR599130,CR601546,CR608908,CR609684,CR610443,CR610540,CR619012,CR625005,CR626149,HC299099,HD061930 NP_001121159,NP_057083,EAW91449,EAW91450,AAQ13552,AAD34040,BAG50922,BAD96223,AAR08367,AAH01594,AAH10743,Q96A54,ADQ32734,CBJ06650,CBS99526 Hs.5298 ACDCR1|CGI-45|CGI45|FLJ25385|FLJ42464|PAQR1|TESBP1A OTTHUMP00000038806|adiponectin receptor protein 1|progestin and adipoQ receptor family member I protein-coding 1317349 ADIPOR2 adiponectin receptor 2 The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM] 1331376,1642395,2312480,2312486,2312478,2312488,2312495,1625763,1625764,1625765,2312476,2312490 20470935,17207965,20712903,12802337,19631916,19453261,19208777,19120283,19037660,18996753,18996102,18988888,18931038,18923878,18842004,18719649,18713296,18660489,18548168,18466348,18363889,18310295,18294218,18075289,17716299,17697862,17459059,17426101,17416799,17216283,17209173,17123704,17118803,17054465,17006986,17001470,16955209,16899222,16724230,16700915,16678125,16609881,16601138,16505255,16205883,16139921,16044242,15983228,15918014,15757860,15489334,15454091,15331527,15105989,14702039,14651988,12477932,8889548,19913121,20602615,20628086,20682687,19051043,19502591,19549705,19662435,19671624,19723917,19887569,19909601,20032495,20120899,20178558,20308432,20379614,20423458,20875820,20336470,20125105 1331376,1642395,2312480,2312486,2312478,2312488,2312495,1625763,1625764,1625765,2312476,2312490 79602 NM_024551,AC005183,AC005343,CH471116,AK025085,AK127196,AK128511,AY424280,BC004906,BC051858,BM973815,CR591974,CR610048,CR613880,HD061932 ADQ33094,NP_078827,EAW88924,BAB15062,BAC86881,BAC87473,AAR08368,AAH51858,Q86V24,CBS99527 Hs.371642,Hs.708545 ACDCR2|FLJ21432|MGC4640|PAQR2 adiponectin receptor protein 2|progestin and adipoQ receptor family member II protein-coding 737582 ADK adenosine kinase This gene encodes adenosine kinase, an abundant enzyme in mammalian tissues. The enzyme catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Alternative splicing results in two transcript variants encoding different isoforms. Both isoforms of the enzyme phosphorylate adenosine with identical kinetics and both require Mg2+ for activity. 1580863,1300048,2313341,2313360,1300259 16712791,20698827,9070863,18309031,15489334,12820662,12477932,12112843,11242543,10215863,9843365,8917457,8577746,185014,16385451,18600536,18600545,19635462,20392501,19913121,16344560,20881134 2313341,2313360,1300259 132 NM_006721,NM_001123,AC012046,AC022026,AC022540,AC091699,AF283990,AL357037,AL731576,CH471083,AI608983,AK290633,BC003568,BM472149,BT006788,CB133126,CR597304,U33936,U50196,U90338,U90339,AK301590,AK302706,AI188809,BJ989861,DA356691,NM_001202449,NM_001202450 NP_006712,NP_001114,AAG13958,CAI39671,CAI39672,EAW54555,EAW54556,BAF83322,AAH03568,AAB01689,AAA97893,AAB50234,AAB50235,P55263,Q86U79,Q9HB33,ABM92241,ABW03284,AAP35434,BAH13519,BAH13786,CAH73202,CAH73203,NP_001189378,NP_001189379 Hs.656586 AK adenosine 5'-phosphotransferase|adenosine kinase protein-coding 730917 ADM adrenomedullin Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of 52 amino acids, has 1 intramolecular disulfide bond, and shows a slight homology with the calcitonin gene-related peptide. It may function as a hormone in circulation control because it is found in blood in a considerable concentration. The precursor, called preproadrenomedullin, is 185 amino acids long. By RNA-blot analysis, human adrenomedullin mRNA was found to be highly expressed in several tissues. Genomic ADM DNA consists of 4 exons and 3 introns, with the 5-prime flanking region containing TATA, CAAT, and GC boxes. There are also multiple binding sites for activator protein-2 and a cAMP-regulated enhancer element. [provided by RefSeq] 2313312,2313313,2313311,1625294,1625307,1625319,1625297,1625316,704370,1625296,1625299,1625300,1625301,1625302,1625303,1625304,1625305,1625310,1625312,1625318,1625333,1625298,1625317,1580863,2325317,2325318,2325319,1642599,2325637,2325320 12753312,12720100,12716843,12687457,12684703,12667630,12660258,12646214,12643861,12630824,12630823,12630817,12601625,12579522,12566732,12565880,12534591,12529288,12484513,12477932,12383875,12376296,12375542,12324915,12220731,12193565,12189226,12137974,11972292,11956648,11921363,11921362,11905404,11879669,11774814,11744163,11712085,11571480,11562782,11511315,11502838,11463752,11463574,11387328,11150646,11116141,10956553,10899511,10867102,10855685,10588445,9916958,9768331,12782295,12763641,9620797,9578982,9535752,9357065,9145435,8885746,8774254,8742029,8687431,8387282,8137955,8076689,7745031,7688224,8074714,10822232,11410113,8524787,12379507,19346663,19323987,19306911,19253104,19247278,19210874,19166930,19126117,19010904,19009024,18929609,18708640,18705285,18692535,18657357,18615773,18463805,18403050,18401334,18371176,18081029,18080871,18000597,17952853,17941085,17922433,17766467,17719138,17584073,17388661,17384335,17327422,17307261,17290391,17053041,17022943,16963041,16854513,16821090,16815566,16797107,16622024,16609682,16596251,16517613,16416151,16356592,16322067,16256216,16221100,16154664,16115629,16097366,15976103,15974887,15917349,15908101,15902095,15866060,15789277,15788445,15761041,15758554,15711093,15702240,15684700,15677761,15665526,15544858,15531734,15527794,15489334,15361766,15336545,15300632,15242974,15194870,15192039,15044509,15016771,14759562,14725946,14720432,14715486,14714580,14671210,14612905,14534081,14517225,12969589,12920627,12907107,12903912,12853384,12835224,12805025,19738161,20016189,20216319,18240029,19212702,19564455,19610056,19616043,19623513,19627536,19636336,19706311,19823891,19847298,19932100,20151808,20954838,21075100,19913121,20628086,20713499,20467777,12036966,20534761,20798523 2313312,2313313,2313311,1625294,1625307,1625319,1625297,1625316,704370,1625296,1625299,1625300,1625301,1625302,1625303,1625304,1625305,1625310,1625312,1625318,1625333,1625298,1625317,2325317,2325318,2325319,1642599,2325320 133 AC080023,CH471064,D43639,DQ143945,S73906,AK312893,BC015961,BT006902,CR541995,CR590237,CR594627,CR594757,CR596960,CR599617,CR599806,CR600917,CR602691,CR603338,CR603539,CR606687,CR608713,CR609222,CR611442,CR612290,CR615072,NM_001124,CR615242,CR615314,CR615821,CR619137,CR619174,CR619368,CR620623,CR621314,CR622013,CR622517,CR625658,CR625700,CR626115,D14874,CR615227,HI574294 NP_001115,EAW68571,EAW68572,BAA07756,AAZ38717,AAC60642,BAG35740,AAH15961,AAP35548,CAG46792,BAA03589,P35318,CBX47636 Hs.441047 AM ADM|preproadrenomedullin protein-coding 1348112 ADM2 adrenomedullin 2 ADM2 belongs to a family of calcitonin (MIM 114130)-related peptide hormones important for regulating diverse physiologic functions and the chemical composition of fluids and tissues.[supplied by OMIM] 1303968 18577758,19255504,18829738,18460550,17965749,17346853,17008878,16359754,15461802,14706825,14702039,14615790,14615490,12477932,10591208,18240029,19535789,19592612,19684198,19910445,12036966 1303968 79924 NM_024866,AL096767,AB121034,AB236970,AF529213,AK024788,AK090635,AK092640,BC012864,BM910446,BX400262,CR456479 NP_079142,CAO03464,BAD07411,BAE46395,AAQ09100,BAB15004,CAG30365,Q6IC89,Q7Z4H4,Q9H794,AAI41535,AAI46570,CAK54460,CAK54759 Hs.449099 AM2|FLJ21135|dJ579N16.4 ADM2|OTTHUMP00000196596|intermedin protein-coding 737453 ADNP activity-dependent neuroprotector homeobox Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1580863,2312784,2312792,2312791,2312794,2312793,2312783,1358226,2312775 17474147,18029348,17878164,17345061,17081983,15489334,12477932,11780052,11013255,9872452,19923857 2312784,2312792,2312791,2312794,2312793,2312783,1358226,2312775 23394 NM_181442,NM_015339,AL034553,CH471077,AB018327,AF250860,AK074926,AK314734,AL080163,BC015554,BC075794,BC090933 NP_852107,NP_056154,CAB53748,EAW75611,EAW75612,BAA34504,AAG47651,BAG37275,CAB45752,AAH75794,AAH90933,Q6DHZ8,Q9H2P0 Hs.570355 ADNP1|KIAA0784 ADNP homeobox 1|OTTHUMP00000031275|OTTHUMP00000165329|activity-dependent neuroprotective protein|activity-dependent neuroprotector homeobox protein protein-coding 1605090 ADNP2 ADNP homeobox 2 18029348,15489334,14702039,12477932,10048485,20936779 22850 XR_110165,NM_014913,AC090360,AC139100,CH471117,AB020670,AK022688,AK023032,AK292566,BC071589 NP_055728,EAW66646,EAW66647,BAA74886,BAB14180,BAF85255,AAH71589,Q6IQ32,ABZ92222 Hs.131915 KIAA0863|ZNF508 ADNP homeobox protein 2|zinc finger protein 508 protein-coding 1317890 ADO 2-aminoethanethiol (cysteamine) dioxygenase Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM] 17581819,15489334,14702039,12477932,20877624 84890 NM_032804,AL133417,CH471083,AK027453,AK127694,AL049319,BC018660,BC028589,BC067740,CR611168 NP_116193,CAH73826,EAW54235,EAW54236,EAW54237,BAB55123,BAG54551,AAH18660,AAH28589,AAH67740,Q96SZ5 Hs.99821 C10orf22|DKFZp564C046|FLJ14547 2-aminoethanethiol dioxygenase|cysteamine (2-aminoethanethiol) dioxygenase (ADO)|cysteamine dioxygenase protein-coding 730817 ADORA1 adenosine A1 receptor The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq] 2313803,2313805,2313804,2313807,2313808,1625225,1625243,1331525,1625367,1580863,1625229,1625369,1625366,1300260,4890386 20354569,7818494,8360491,8450977,1530647,19207864,19193874,19047957,19019667,19019012,18996102,18680557,18500760,18373090,18281812,18052973,17901362,17728764,17542617,17088462,16709961,16344560,16118787,15489334,15485865,15257174,14997566,14702039,12974671,12920396,12826838,12825092,12812995,12773115,12764156,12477932,12475223,12150791,11934694,11703426,11390975,11369591,11278325,10890919,10521440,10502296,10487528,10455026,9247966,9166747,8889548,8300646,7601478,2825071,2541503,1662665,1551861,1339301,20105183,18240029,19536175,19558453,19574994,19794965,19820430,19822392,19883624,19919976,20085598,20392501,20468064,20599769,18577758,19913121,20602615,20609566,20628086,16481441 2313803,2313805,2313804,2313807,2313808,1625225,1625243,1331525,1625367,1625229,1625369,1625366,1300260 134 X68485,NM_001048230,AC105940,CH471067,AB004662,AK095060,AK127752,AK289928,AK295584,AK308733,AY136746,BC026340,BT019854,BU740906,CR541749,CR612499,DA343445,DB171678,L22214,S45235,S56143,NM_000674,GM047589 AAB25533,CAA48503,P30542,ABM83304,ABM83305,ABM84210,ABM86518,ABM87615,NP_000665,NP_001041695,EAW91465,BAA20433,BAG54566,BAF82617,BAH12115,AAN01272,AAH26340,AAV38657,CAG46549,AAA17544,AAB23388,CAV33768 Hs.77867 RDC7 OTTHUMP00000039091|adenosine receptor A1 protein-coding 730999 ADORA2A adenosine A2a receptor This gene encodes a protein which is one of several receptor subtypes for adenosine. The activity of the encoded protein, a G-protein coupled receptor family member, is mediated by G proteins which activate adenylyl cyclase. The encoded protein is abundant in basal ganglia, vasculature and platelets and it is a major target of caffeine. [provided by RefSeq] 2313805,1331525,1625367,1580863,1300262,1300261,4890366,4890380,4890362,4890358,4890361,4890364,4890386,4890367,4890370,4890383,4890376,4890378,4890363,4890385 12189203,15461802,15461468,15351206,15257174,14715520,14702039,14666117,14525968,12933819,12856413,12837758,12825092,12804599,12784121,12634474,12477932,12429726,12406340,12237741,12080047,11934694,11717194,11532976,11515749,11140838,11125033,10974209,10951119,10391209,10326835,9369973,8670304,8522976,8135838,18331682,20413899,20666933,20045081,16481441,20691427,21088442,12036966,20354569,19386617,19287996,19262506,19159073,19156168,19086053,19019667,19019012,19013155,18996102,18772204,18759349,18629431,18541693,18539621,18524886,18508500,18442791,18434504,18305461,18246094,18218631,18215030,18197085,18057956,17872970,17616786,17599669,17591446,17558310,17512749,17474152,17329997,17257240,17132707,16969271,16917093,16824773,16818375,16361356,16344560,16339780,16280366,16184606,16118787,16027149,16022683,15987888,15774265,15734651,15719154,15704067,15539641,15489334,10899090,16805430,7818494,9262401,10051547,10945659,8360491,16939974,8794889,19591938,19565319,19525944,8088373,8020991,7775460,2541503,1835521,1662665,1438021,1426003,1331670,11571652,16339847,18240029,19303140,19508402,19538256,19541651,19632986,19776336,19794965,19801629,19883624,19902562,19948975,20021407,20029460,20085598,20089670,20197060,20334879,20392501,20396431,20468064,20512606,20520601,19913121,20371613,20628086,20799992,20842321,20926384,21040702 2313805,1331525,1625367,1300262,1300261,4890366,4890380,4890362,4890358,4890361,4890364,4890367,4890370,4890383,4890376,4890378,4890363,4890385 135 HI574256,NM_000675,AP000355,CH471095,U20233,U40771,AK123058,AK289871,AK312946,AY136747,BC013780,BT006999,CR456367,CR611621,DA942067,EU036687,EU036688,EU036689,EU036690,EU036691,EU036692,EU036693,EU036694,M97370,X68486 CBX47617,NP_000666,EAW59658,AAB18370,AAA83270,BAG53866,BAF82560,BAG35787,AAN01273,AAH13780,AAP35645,CAG30253,ABS89237,ABS89238,ABS89239,ABS89240,ABS89241,ABS89242,ABS89243,ABS89244,AAA58356,CAA48504,P29274,Q93003,CAK54365,CAK54664 Hs.197029 ADORA2|RDC8|hA2aR OTTHUMP00000198454|OTTHUMP00000198455|adenosine A2 receptor|adenosine receptor A2a|adenosine receptor subtype A2a protein-coding 731019 ADORA2B adenosine A2b receptor This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 20388705,7558011,10101031,8022409,7836474,19086053,19019667,18703227,18367727,18351132,18215420,18056839,18004767,17565009,17428235,17301835,17077301,16778150,16707627,16631311,16103269,15769552,15637124,15550390,15489334,15187156,12939345,12600879,12477932,12080047,11906291,11579381,11125033,11048721,9914161,7790006,1551861,1325798,18240029,18996102,19794965,19841638,19883624,19948975,20008542,20011598,20029460,20237496,20619442,19913121,20628086,12036966,20926384 136 NM_000676,AC006251,CH471222,DQ351340,AY136748,BC025722,CR592809,CR616920,CR620445,CR621788,M97759,X68487 NP_000667,EAX04484,EAX04485,ABC74564,AAN01274,AAH25722,AAA51598,CAA48505,P29275,Q2L7J7,ABM82640,ABM85817 Hs.167046 ADORA2 adenosine receptor A2b protein-coding 1344356 ADORA2BP adenosine A2b receptor pseudogene 7558011 137 NG_000843,AL022398 ADORA2BP pseudo 735600 ADORA3 adenosine A3 receptor This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1300263 2834384,19086053,19019667,18996102,18653544,18636149,18351132,17728764,17348028,17216675,17170310,16849509,16710414,16282197,16242072,15849244,15489334,15355922,15240539,15147729,14978250,14688204,12975309,12695530,12600879,12477932,12435805,12406340,12152652,11891221,11214319,11111832,9618527,9293494,8889548,8617363,8234299,7607699,19095736,9380026,9164961,9837869,8399349,19426966,18240029,19794965,19883624,20190146,20237496,20379614,19913121,20602615,20628086,20716228,18577758,20732875 1300263 140 NM_020683,NM_000677,AL390195,AL391063,AY011231,CH471122,L77729,L77730,S81868,AK313095,AY136749,AY358644,BC029831,BC041707,BC064411,BM675096,DB447202,L20463,L22607,X76981,NM_001081976,GM047590 NP_001075445,NP_065734,NP_000668,CAC36045,CAI15626,CAI15631,CAI15632,CAM21993,CAI22964,AAG35155,EAW56502,AAB02790,AAD14378,BAG35919,AAN01275,AAQ89007,AAH29831,AAH41707,AAH64411,AAA16365,AAA35949,CAA54288,P33765,Q5QNZ3,Q5QNZ4,Q6LD47,Q6P2N6,Q9HBK8,ABM83375,ABM86587,CAV33769 Hs.281342 A3AR|AD026|RP11-552M11.7|bA552M11.5 OTTHUMP00000013479|adenosine receptor A3 protein-coding 1353628 ADPGK ADP-dependent glucokinase ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM] 737633 16713569,16344560,16303743,15489334,14975750,14702039,12477932,11230166,16169070,19309449,19903754,20379614 737633 83440 NR_023319,NM_031284,AC009712,CH471082,CS051413,AF204270,AK055526,AK075560,AK293282,AK294391,AL136873,AL832254,NR_023318,BC006112,BC018074,BC044589,BE018185,CR533447,DA031990,DA208247,DB279245 NP_112574,EAW77914,EAW77915,EAW77916,EAW77917,EAW77918,EAW77919,EAW77920,EAW77921,CAI72201,AAL31473,BAB70941,BAC11699,BAG56809,BAG57646,CAB66807,CAH10598,AAH06112,AAH18074,CAG38478,Q69YR1,Q9BRR6,ACE87141,ACE86460 Hs.725176 2610017G09Rik|ADP-GK|DKFZp434B195 ADP-dependent glucokinase|ATP-dependent glucokinase|rbBP-35 protein-coding 732427 ADPRH ADP-ribosylarginine hydrolase The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes, which require DTT for maximal activity, the human enzyme is DTT-independent. 1580863 8349667,15546898,15489334,12477932,12070318,9193669,19407395,17207965 141 NM_001125,AC073352,CH471052,AK291787,AK313369,BC020574,BC063883,BC074769,L13291,AK304560 NP_001116,EAW79561,EAW79562,EAW79563,BAF84476,BAG36168,AAH63883,AAH74769,AAA35555,P54922,BAG65353,ADQ31983 Hs.99884 ARH1 ADP-ribose-L-arginine cleaving enzyme|OTTHUMP00000215216|OTTHUMP00000215217|OTTHUMP00000215219|[Protein ADP-ribosylarginine] hydrolase protein-coding 1313790 ADPRHL1 ADP-ribosylhydrolase like 1 ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM] 15489334,15057823,12477932,12070318,17207965 113622 NM_199162,NM_138430,AL160251,CH471085,AJ313429,BC009755 NP_954631,NP_612439,CAI39433,CAI39434,CAI39435,EAX09208,EAX09209,CAC86114,AAH09755,Q8NDY3,ADQ31850 Hs.98669 ARH2 ADP-ribosyl-hydrolase|ADP-ribosylhydrolase 2|OTTHUMP00000018764|[Protein ADP-ribosylarginine] hydrolase-like protein 1 protein-coding 1319201 ADPRHL2 ADP-ribosylhydrolase like 2 This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm. 17075046,17015823,16710414,16511307,16278211,15489334,14702039,12477932,12070318,9373149,8125298,16169070,17991898,18029348 54936 NM_017825,AJ313333,AL138787,CH471059,AF212236,AJ427295,AK000453,AK223037,AK295283,AK316349,BC014169,CR457237,CR593151,CR594747,CR595076,CR600346,CR604004,CR604726,CR607590,CR609775,CR611600,CR613086,CR619091,CR619499,CR621192,CR623438,DC365461 NP_060295,CAC85940,CAC21453,EAX07389,EAX07390,AAK14922,CAD20316,BAA91174,BAD96757,BAG58267,BAH14720,AAH14169,CAG33518,Q9NX46 Hs.18021 ARH3|FLJ20446 ADP-ribosylhydrolase 3|[Protein ADP-ribosylarginine] hydrolase-like protein 2|poly(ADP-ribose) glycohydrolase ARH3|protein ADP-ribosylarginine hydrolase-like protein 2 protein-coding 1353885 ADPRTL4 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4 20218899,20496165,18701435,10591208,20574454 23783 NG_002623,AP000365 ADPRTL4 pseudo 736081 ADRA1A adrenergic, alpha-1A-, receptor Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq] 1559318,1580863,1625780,1625770,1625775 9490024,7737411,10860850,10671514,8396931,8183249,19352218,19322003,19105822,19102884,19095219,19086053,19011682,18996102,18821565,18523139,18413308,18351393,18331634,18257748,17973108,17972277,17681068,17655760,17556657,17408692,17075692,16823803,16690783,16685204,16645408,16633140,16536786,16153395,16043131,15946947,15917235,15824464,15626751,15525470,15474515,15297446,15179408,15136785,14626446,12782672,12707939,12544508,12519093,12477932,12409310,11425010,11154706,10587338,10493934,10334511,9359081,8832064,8564208,8024574,7815325,7805763,1970822,1363873,20129829,12184796,18240029,18524654,19444285,19476811,19520158,19565482,19730237,19763272,19874574,19918262,19919991,20004544,20044737,20068447,20173430,20379614,19913121,20628086,20705341,21063774,16754659 1559318,1625780,1625770,1625775 148 NM_033303,NM_033302,NM_033304,NM_000680,AB065703,AC015564,AC022839,AC091675,AY389505,CH471080,EU326301,U03866,U08994,AF013261,AF395806,AK289548,AY491775,AY491776,AY491777,AY491778,AY491780,AY491781,BC095512,D25235,D32201,D32202,L31774,S76001,U02569 NP_150646,NP_150645,NP_150647,NP_000671,BAC05926,AAQ91331,EAW63569,EAW63570,EAW63571,EAW63572,ACA05899,ACA05901,ACA05903,ACA05905,AAB60353,AAA18783,AAC06138,AAK77197,BAF82237,AAR84644,AAR84645,AAR84646,AAR84647,AAR84649,AAR84650,AAH95512,BAA04960,BAA06900,BAA06901,AAB59486,AAD14205,AAA93114,P35348,Q6LD06,Q7KYZ9 Hs.709175 ADRA1C|ADRA1L1|ALPHA1AAR G protein coupled receptor|adrenergic receptor, alpha 1a|adrenergic, alpha -1A-, receptor|adrenergic, alpha-1A-, receptor variant 1|adrenergic, alpha-1A-, receptor variant 3|adrenergic, alpha-1A-, receptor variant 5|adrenergic, alpha-1A-, receptor variant 8|adrenergic, alpha-1C-, receptor|alpha-1A adrenergic receptor|alpha-1A adrenoceptor|alpha-1A adrenoreceptor|alpha-1C adrenergic receptor|alpha-adrenergic receptor 1c protein-coding 733119 ADRA1B adrenergic, alpha-1B-, receptor Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq] 1559318,1580863,1625771,1625772 1328250,2154750,10820200,19334040,19086053,19058789,18523139,18336813,18257748,17973108,17681068,17365508,17220353,16645408,16352594,16297597,15824464,15690361,15525470,15297446,15220331,14736874,14626446,12695539,12644451,12409310,12023679,10652206,9481484,9353340,8617782,8183249,8024574,7815325,1706716,1662393,12184796,12477932,18240029,19910028,19919991,20379614,20468064,18577758,19913121,20628086,16754659,20538960,20816195,21063774 1559318,1625771,1625772 147 NM_000679,AC011343,AC068657,AC127458,CH471062,M99589,M99590,BC136568,BC136569,BQ576306,L31773,U03865,EU332831 NP_000670,EAW61572,AAI36569,AAI36570,AAB59485,AAB60352,P35368,ABY87520 Hs.368632 ADRA1|ALPHA1BAR alpha-1B adrenergic receptor|alpha-1B adrenoceptor|alpha-1B adrenoreceptor|alpha-1B-adrenergic receptor protein-coding 734051 ADRA1D adrenergic, alpha-1D-, receptor Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq] 1559318,1580863 10820200,10969806,1656955,10860850,7746284,19458937,19086053,18628404,18257748,18187928,17973108,17681068,17660397,17404580,17384146,16533813,15690361,15525470,15297446,14736874,14626446,12442007,12409310,11780052,8183249,8125015,8039425,8024574,7815325,1359975,12184796,18240029,16754659,19913121,20628086,19212140,21063774 1559318 146 NM_000678,AL121675,AL357040,CH471133,D29952,L31772,M76446,S70782,U03864,EU326302 NP_000669,CAC00601,CAH70478,EAX10455,BAA06222,AAB59487,AAA35496,AAB31163,AAB60351,P25100,ACA05908 Hs.557 ADRA1|ADRA1A|ADRA1R|ALPHA1|DAR|dJ779E11.2 adrenergic, alpha -1D-, receptor|adrenergic, alpha-1A-, receptor|alpha-1A adrenergic receptor|alpha-1D adrenergic receptor|alpha-1D adrenoceptor|alpha-1D adrenoreceptor|alpha-1D-adrenergic receptor|alpha-adrenergic receptor 1a protein-coding 737381 ADRA2A adrenergic, alpha-2A-, receptor Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq] 1559309,1331525,1358368,1580863,1625183 16823803,16809338,16806103,16728691,16636200,16605244,16583406,16567612,16531006,16513442,16464220,16389583,16333651,16178932,16172611,15939803,15920038,15824464,15795790,15719258,15719154,15717291,15653687,15592690,15520832,15494033,15489334,15199368,15164054,15138209,15070958,15028622,15006432,12946937,12815749,12707939,12627476,12544508,12529373,12477932,12370125,12080184,12054508,12023679,12019440,11888275,10896916,1354394,9624180,2823383,6259160,19423370,19401164,19388931,19365399,19352218,19309415,19150055,19088492,19086053,19058789,18996102,18842695,18794646,18725220,18600088,18561481,18547701,18511740,18480058,18314873,18200436,18075481,17971028,17894416,17655843,17655760,17612790,17544870,17522710,17512307,17283289,17215105,17159089,17081983,17075692,17034020,16917924,16869226,16854373,10952463,18577758,11886485,11732925,11475011,11467765,11425010,11343863,11248750,11140838,11039642,10948191,10647009,10224112,9235896,8889548,8226727,8098045,8011430,7887906,7876239,2568356,2170371,1849485,1678850,1678390,1385431,1334200,11154706,15782186,10948198,18240029,19439247,19477270,19491387,19506906,19568979,19604092,19833115,19834535,19874574,19876010,19922756,19965390,20044737,20081858,20110357,20135061,20146095,20419449,20468064,20526338,19913121,20532885,20551163,20571754,20602615,20613626,20628086,20692245,20705341,20731965,11313909,20696855,20660048,20538960,20833658,20864182,20952631,21059181,21063237,21070505 1559309,1331525,1358368,1625183 150 NM_000681,NG_012020,AF262016,AF281308,AF316894,AL158163,AY032736,CH471066,DQ149926,DQ285607,EU332846,M18415,M23533,AF284095,BC035047,BC050414,BM682651 NP_000672,AAG00447,AAF91441,AAK01634,CAH72817,AAK51162,EAW49547,AAZ73101,ABB72683,ABY87535,AAA51664,AAA51665,AAK26743,AAH35047,AAH50414,P08913 Hs.249159 ADRA2|ADRA2R|ADRAR|ALPHA2AAR|ZNF32 adrenergic receptor, alpha 2a|alpha-2 adrenergic receptor subtype C10|alpha-2-adrenergic receptor, platelet type|alpha-2A adrenergic receptor|alpha-2A adrenoceptor|alpha-2A adrenoreceptor|alpha-2AAR subtype C10 protein-coding 731080 ADRA2B adrenergic, alpha-2B-, receptor Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. This gene encodes the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide exchange protein that functions in regulation of translation. A polymorphic variant of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat element, was identified to have decreased G protein-coupled receptor kinase-mediated phosphorylation and desensitization; this polymorphic form is also associated with reduced basal metabolic rate in obese subjects and may therefore contribute to the pathogenesis of obesity. This gene contains no introns in either its coding or untranslated sequences. [provided by RefSeq] 1559314,1559315,1559313,2313541,2313542,2313545,2313548,2313543,2313544,1580863,1300265 20424170,2164221,19352218,19056576,18996102,18953403,18854756,18596718,18456256,18054844,17660814,17625217,17620957,17595424,17516297,17410123,17370102,17277585,17039423,16907703,16776624,16645408,16336817,16269962,16247508,16531006,17215105,15920038,15900285,15900214,15893292,15864138,15864122,15815621,15731590,15719258,15592690,15309292,15166301,15037199,14744925,12946937,12917501,12822042,12629104,12535806,12519093,12477932,12401126,11753579,11345359,11140838,11056163,10647009,10404816,10224112,9435676,9235896,3012234,2842764,2173582,2172775,2169434,11154706,2834384,18240029,19477270,19477404,19593211,19728989,19781422,19815603,19826083,19874574,20044737,20051907,20110158,20613626,20651814,20692245,20705341,11313909,20401689 1559314,1559315,1559313,2313541,2313542,2313545,2313548,2313543,2313544,1300265 151 NM_000682,AC092603,AF005900,AF316895,AY548167,CH471207,DQ057076,EU332847,M34041,M38742,AA887330,BC133021,BC136537,BF475329,CV806541 NP_000673,AAX93218,AAB62558,AAK01635,AAS55646,EAW71390,AAY43127,ABY87536,AAA51666,AAA62823,AAI33022,AAI36538,P18089 Hs.247686 ADRA2L1|ADRA2RL1|ADRARL1|ALPHA2BAR ADRA2B adrenergic, alpha-2B-, receptor|G-protein coupled receptor|aadrenergic, alpha-2b-, receptor|adrenergic receptor alpha 2B|alpha-2 adrenergic receptor subtype C2|alpha-2-adrenergic receptor-like 1|alpha-2B adrenergic receptor|alpha-2B adrenoceptor|alpha-2B adrenoreceptor|alpha-2B-adrenergic receptor|alpha-2BAR protein-coding 737142 ADRA2C adrenergic, alpha-2C-, receptor Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq] 1300355,1580863 18577758,9371698,10196213,19423370,19352218,19309415,18947427,18835330,18794726,18776959,18702968,18698227,18511740,18487435,18435421,18320080,18308161,18075481,18071056,17971028,17655760,17644575,17496726,17383306,17351367,17223428,17192578,17075692,16636200,16605244,16569551,16464220,16407897,16299019,16187973,15946904,15920038,15861038,15719258,15683753,15592690,15542284,15345481,15319474,12946937,12374873,12210281,11317218,11140838,10945659,10801795,10647009,10224112,9235896,8188260,7688069,2842764,1849485,1349607,11154706,16531006,17215105,20128806,12477932,18240029,19444546,19477270,19477404,19742303,19874574,19880803,20398908,11313909,20613626,20692245,20705341,21041608 1300355 152 NM_000683,AC141928,AF280399,AF280400,AY455666,AY605898,D13538,EU332833,U72648,X72924,BC142625,J03853,NG_012640,CS566010,HI639509 NP_000674,AAY41059,AAG28076,AAG28077,AAR18071,AAT02221,BAA02737,ABY87522,AAC78723,AAI42626,AAA35513,P18825,Q4W594,CAN37604,CBX55893 Hs.123022 ADRA2L2|ADRA2RL2|ADRARL2|ALPHA2CAR adrenergic receptor, alpha 2c|alpha-2 adrenergic receptor subtype C4|alpha-2C adrenergic receptor|alpha-2C adrenoceptor|alpha-2C adrenoreceptor|alpha-2C-adrenergic receptor|alpha-2CAR|alpha2-AR-C4 protein-coding 731289 ADRB1 adrenergic, beta-1-, receptor The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq] 737773,1559319,737774,1331525,1580863,4145102,4140391,4140443 10212248,16316992,19576569,19378229,19301767,19094446,19086053,19073901,19056576,19036891,19033826,19010176,18996102,18947427,18937294,12815745,12724327,12709726,12643891,12544508,12529373,12519093,12455717,12422153,12391161,12374873,12270132,12244098,12197595,12140284,12106601,12090746,12069593,12032746,12029453,12023679,11942593,11854867,11753577,11700307,11526121,11447084,11337934,11140838,11052857,10995758,10862778,10794544,10535961,10477438,9843378,8892658,7583452,6305985,2825170,2536864,2465637,2154750,18936436,18797399,18794726,18776959,18773997,18772317,18754404,18702968,18702937,18679149,18625943,18622236,18615004,18596718,18540901,18534365,18479335,18452871,18429752,18413560,18413308,18403719,18346809,18331634,18323523,18311486,18308161,18298953,18253135,18239290,18219297,18209576,18193079,18158268,18155231,18075464,18059082,17998459,17919552,17893006,17845930,17680533,17667029,17644825,17635183,17591269,17585213,17541557,17512307,17496726,17463065,17383306,17345787,17339538,17335470,17334644,17329986,17270896,17223428,17217681,17118120,17023080,16997396,16946993,16940053,16914520,16907703,16844790,16815314,16785856,16765375,16760361,16728691,16648137,16534528,16500896,16487965,16485781,16421173,16402084,16325708,16315032,16287427,16227135,16210433,16189366,16187973,16153393,16122377,15917856,15864115,15861037,15833937,15824464,15735607,15719258,15685248,15564877,15542284,15479221,15464701,15388645,15358775,15342173,15331590,15312808,15237695,15212839,15212591,15086532,15079793,15055253,14990580,14734649,14553962,14534524,14502278,12921807,12851615,12847069,12844134,12036966,20426789,20643254,20443839,20129829,20414837,20587416,12184796,15452121,15932670,18240029,19037712,19477404,19509284,19515093,19538012,19542315,19553224,19578796,19621046,19623647,19628119,19673943,19743955,19745105,19779464,19842931,19845516,19883298,19956635,20023040,20044737,20079238,20116105,20144152,20185488,20235788,20300048,20352314,20374546,20384459,20459474,20468064,20470286,20537417,20203292,20123316,20581797,20602615,20625396,19913121,20628086,20693591,20705341,20731869,20803192,20821015,20538960,20831043,20948559,20952631,21034538,21044781,21059181 737773,1559319,737774,1331525,4145102,4140391,4140443 153 NM_000684,NG_012187,AF169006,AF169007,AL355543,AY567837,CH471066,EU332832,AF272890,J03019,CS566006,HI639505 NP_000675,AAD53696,AAD53697,CAI16920,AAS66983,EAW49485,ABY87521,AAA51667,P08588,AAI69224,AAI69225,AAI69226,CAN37601,CBX55891 Hs.99913 ADRB1R|B1AR|BETA1AR|RHR adrenergic receptor, beta 1|beta-1 adrenergic receptor|beta-1 adrenoceptor|beta-1 adrenoreceptor protein-coding 733595 ADRB2 adrenergic, beta-2-, receptor, surface This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq] 1559320,1601122,1601126,1601127,1601128,1559319,737773,1598757,1598759,1580863,1598745,1598746,1598754,1331525,1601119,1601124,1601120,1601121,1601125,1601123,1578728,4145081,4145094,4145080,4145095,2325640,4140935,4144900,4145041,4144884,4145093,4145097,4145061,4145098,4145086,4145092,4145099,4145108,4140444,4145082,4145096,4145105,4140391,4144883,4145107,4144899,4140443 18534365,18513389,18498711,18492292,18484422,18479335,18473266,18454446,18440968,18426866,18423577,18413560,18413308,18399855,18393130,18383333,18379861,18362692,18334922,18331634,18316360,18311486,18303970,18267980,18253135,18249219,18247304,18239290,18238958,18219297,18199683,18193079,18159608,18156980,18156033,18086673,18075464,18068431,18065472,18059015,18034461,18024720,17998459,17998016,17996646,17993585,17963627,17962520,17962519,17952055,17925066,17919552,17907319,17893006,17890463,17885618,17883727,15123695,12297500,10734107,9507004,19576569,19527514,19514054,19491387,19479237,19476811,19474452,19450127,19441602,19430548,19424180,19422106,19420105,19378975,19378229,19373110,19367093,19336370,19334040,19326508,19301767,19293197,19284637,19275519,19264973,19263529,19258923,19254291,19247692,19238444,19190821,19186333,19183167,19177262,19176359,19175363,19148102,19131662,19111454,19102885,19088492,19086053,19056576,19056482,19034036,19033440,19029431,19028820,19019335,18996102,18977990,18974840,18940527,18937294,18936436,18931892,18855131,18849614,18841999,18821565,18818748,18801735,18789663,18785519,18772317,18758858,18753860,18719656,18714823,18709160,18702968,18702008,18691971,18691306,18679149,18678875,18667995,18647184,18640383,18636124,18625943,18622265,18615004,18611262,18591903,18579897,18569231,18566454,18558635,18547522,18544533,18540901,16615274,16596417,16585076,16573811,16571957,16569551,16563272,16554384,16551744,16537879,16493638,16467650,16461848,16449022,16448568,16420563,16417856,16412099,16409205,16407241,16395068,16374847,16369120,16369119,16339181,16338281,16322642,16301860,16289313,16286511,16280323,16280290,16251889,16227135,16207148,16205624,16197474,16189366,16188057,16172412,16164442,16153394,16142389,17845212,17824821,17716866,17703412,17700364,17673687,17667029,17664853,17644825,17635908,17621827,17621313,17600229,17595424,17591269,17573413,17569809,17561373,17531924,17512307,17510209,17502834,17493936,17460547,17439327,17428813,17383306,17378367,17374341,17356698,17347382,17345787,17336757,17329986,17303378,17297203,17292646,17270896,17267840,17255556,17243909,17223428,17221209,17210860,17200117,17199132,17198546,17178264,17159089,17150099,17143563,17138565,17132602,17130852,17117186,17099033,17094995,17077128,17075257,17068824,17054017,17036337,17027833,17020471,17003099,16996249,16971769,16955193,16946993,16935688,16931635,16920721,16907703,16899844,16894395,16893516,16875498,16873402,16849635,16785856,16783489,16779985,16772309,16771114,16763224,16754519,16741943,16740612,16728691,16714291,16685203,16683069,16672841,16670773,16651467,16636198,16618831,7797501,7706471,7680566,7608160,3034889,3025863,2837466,2831218,2823249,2564629,2541947,2540197,2471981,2470898,2154750,1848190,1663718,1371121,154,17666399,11882663,12621035,15782186,19783788,20443840,16100145,16054001,16041242,16027735,16027244,16009000,16004558,15994241,15987731,15976384,15959859,15956122,15946904,15939803,15931235,15920038,15917856,15879435,15867853,15861037,15853829,15840289,15833937,15833737,15824464,15817638,15817484,15806595,15797659,15794198,15719258,15703163,15687340,15644445,15638826,15634674,15618708,15596681,15578262,15563584,15557128,15554460,15542284,15520258,15506640,15498794,15493717,15492118,15480095,15480094,15479221,15464701,15388645,15364898,15355441,15342173,15334382,15329337,15323067,15297801,15284533,15282385,15249444,15248848,15245435,15212591,15170877,15166301,15155261,15153795,15147203,15126009,15079793,15069780,15016730,14981808,14981238,14748897,14734649,14715679,14709719,14693408,14678347,14678342,14665698,14657864,14655898,14650112,14615367,14610528,14610472,14573333,14557486,14557466,14553962,14510956,14510910,14500986,13680034,12905693,12900437,12888635,12885990,12869379,12835612,12832031,12824951,12822042,12807170,12740450,12727985,12716862,12682000,12629568,12628991,12605574,12574108,12569260,12563174,12544508,12527744,12519093,12502697,12477932,12474986,12442007,12441217,12439523,12436935,12429837,12428391,12422339,12409304,12394950,12391272,12390345,12361188,12244098,12215468,12167654,12164325,12142724,12142723,12142540,12140284,12111048,12106601,12083963,12082592,12080445,12077726,12075579,12065131,12030897,12023679,12008746,11956670,11942593,11941588,11941312,11921496,11884023,11882399,11879211,11877451,11854867,11836685,11821707,11821698,11809992,11809767,11798846,11798553,11785682,11778498,11775127,11775126,11739457,11735081,11718682,11713125,11713122,11706779,11466580,11441182,11434877,11380082,11371409,11309381,11306963,11288039,11278940,11278447,11258696,11246538,11246467,11238007,11230287,11229437,11214319,11192234,11146000,11039642,11013230,10858453,10753752,10606977,10499588,9924018,9880537,9830057,9819198,9671706,9560162,9399946,9373149,9235896,9228019,8892658,8662852,8557631,8386307,8383511,8125298,7915137,7901205,12083965,11147800,20129829,20193676,20399803,20395454,20544957,12184796,15452121,15896782,15932670,16344560,17170700,18029348,18240029,19422388,19538012,19553224,19555572,19559392,19565482,19578796,19581316,19584355,19623647,19626351,19638684,19665031,19689078,19706446,19706508,19723516,19729601,19730237,19745160,19747908,19779464,19779622,19781422,19832974,19850944,19862939,19874574,19883298,19886995,19887115,19905915,19910613,19927042,19929724,19932356,19933216,19948975,19956569,19956635,20023040,20044476,20044737,20054398,20067119,20068447,20078877,20087642,20135061,20144152,20167428,20173430,20175796,20175803,20201926,20210814,20215008,20230274,20235788,20300048,20308035,20335826,20345371,20352314,20374546,20384434,20395963,20401689,20413987,20416077,20452482,20459474,20467565,20468064,20484896,20503287,20515505,20519311,20519561,20521014,20523301,20525719,20537417,20537997,20546196,20546540,20431605,20203292,12036966,20559325,20686604,19913121,20536507,20565774,20602615,20603037,20628086,20673868,20682155,20705341,20727557,20738880,20739939,20803192,20424170,20119640,20739277,15331590,21183077,20140262,20538960,20703737,20734064,20736788,20816195,20829805,20831043,20885911,20929600,20930716,20981007,21034538,21038778,21044781,21054877,21059181 1559320,1601122,1601126,1601127,1601128,1559319,737773,1598757,1598759,1598745,1598746,1598754,1331525,1601119,1601124,1601120,1601121,1601125,1601123,1578728,4145081,4145094,4145080,4145095,2325640,4140935,4144900,4145041,4144884,4145097,4145061,4145098,4145086,4145092,4145099,4145108,4140444,4145082,4145096,4145105,4140391,4144883,4145107,4144899,4140443 154 NM_000024,AC011354,AF022953,AF022954,AF022955,AF022956,AF169225,AF202305,AF203386,AY011291,CH471062,DQ094845,J02960,Y00106,AK223025,AK313151,AY136741,BC012481,BC063486,BC073856,CR595085,M15169,X04827,AA886615,DA705141,NG_016421,HC295426 NP_000015,AAB82148,AAB82149,AAB82150,AAB82151,AAD48036,AAF17569,AAF20199,AAG35451,EAW61798,AAY88739,AAA88017,CAA68289,BAD96745,BAG35969,AAN01267,AAH12481,AAH63486,AAH73856,AAA88014,AAA88015,CAA28511,P07550,Q9BYZ0,CBJ06537 Hs.2551 ADRB2R|ADRBR|B2AR|BAR|BETA2AR adrenergic receptor, beta 2|beta-2 adrenergic receptor|beta-2 adrenoceptor|beta-2 adrenoreceptor|catecholamine receptor 2289514,2289517 BW456_H,BW455_H protein-coding 737467 ADRB3 adrenergic, beta-3-, receptor The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq] 1559325,1559326,1559323,1300267,2313165,2313163,2313161,2313164,2313148,2313149,2313167,737773,1580863,1331525,2313158,2313166 17640319,17631141,17626108,17624182,17616777,17591269,17512307,17476189,17445027,17439327,17378367,17345789,17345787,17342473,17299491,17299381,17270896,17264845,17225053,17190106,17124363,17087055,17046546,16820065,16779985,16715838,16648810,16493638,16449022,16444766,16408483,16369102,16344560,16320158,16301818,16286518,16276029,16054001,16027735,16009000,15959859,15956122,15942638,15939803,15917856,15915764,15833937,15824464,15751274,15743038,15670186,15641247,15613846,15585565,15563584,15543217,15536594,15489932,15489334,15479221,15472194,15464701,15355441,15340101,15334382,15334374,15318095,15302798,15193960,15192823,15179018,15166301,15079793,15061987,15042014,14747257,14742851,14739355,14715679,14713387,14708035,14690019,14671190,14506613,12962933,12917707,12824951,12739037,12739018,12732844,12709137,12690078,12670949,12647276,12629568,12568179,12561621,12544508,12477932,12453902,12442007,12411100,12410955,12406043,12370850,12241539,12169859,12164325,12133431,12082592,12062855,12037740,12008746,11984699,14510956,11949887,11882399,11875710,11872697,11854867,11808891,11798745,11769635,11743057,11743056,11716317,11706779,11699048,11592045,11576322,11573151,11532330,11522702,11466580,11439286,11434877,11380082,11315829,11288809,11287026,11244458,11229427,11213599,11206402,11147800,11095426,11093283,11013230,10999801,10805511,10786926,10391210,9126344,8721782,9892244,15123695,2570461,1718744,19576569,19491387,19479237,19420105,19367093,19295193,19271249,19263529,19193342,19131662,19099777,19080138,19056576,19026982,18996293,18996102,18940396,18936436,18852493,18820136,18753860,18724972,18704193,18636124,18625943,18617734,18611262,18574485,18513389,18510051,18484422,18482921,18441513,18426866,18422027,18393130,18335327,18331634,18311486,18273796,18249219,18249022,18239290,18088254,18054709,17999941,17998022,17989355,17940985,17910280,17852419,17786291,17785925,17727676,8641219,8389717,8389293,8380813,8288218,8011597,7898940,7609752,7609625,7565630,1336117,12036966,15932670,18240029,19553224,19565482,19578796,19587357,19659999,19779464,19842096,20008926,20044737,20078877,20144152,20384434,20401689,20410100,20449541,20459474,20467565,20468064,20503258,20069060,20203292,19913121,20536507,20602615,20628086,20662153,20686326,20705341,20730725,20803423,20831043,21033077,21034552,21085551 1559325,1559326,1559323,1300267,2313165,2313163,2313161,2313164,2313148,2313149,737773,1331525,2313158,2313166 155 NM_000025,NG_011936,AC144573,CH471080,DQ104441,M29932,X70812,X72861,AK293033,AK309919,AK313857,AY487247,BC075017,BQ024407,DA904248,FJ170286,FJ170287,S53291,X70811 NP_000016,EAW63343,EAW63344,AAY88743,AAA35550,CAA50142,CAA50143,CAA51383,BAF85722,BAG36585,AAR37414,AAH75017,ACL14174,ACL14175,AAB24837,CAA50141,P13945 Hs.2549 BETA3AR|FLJ99960 beta-3 adrenergic receptor|beta-3 adrenoceptor|beta-3 adrenoreceptor 2289520,2314765,2314776 BW458_H,GLUCO100_H,GLUCO101_H protein-coding 731036 ADRBK1 adrenergic, beta, receptor kinase 1 The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq] 1580269,737775,1580863,632163,1625784,1625786,1625788,1625789,1625791,737776,1625790,4140391,4140399 17986524,1339451,19400979,19338266,19306925,19257866,18511496,18463167,18451066,18425130,18369319,17998459,17544362,17482545,17276003,17256744,17146290,17102134,17055984,17008309,17006543,17000469,16984558,16920721,16849637,16725308,16605244,16356165,16121194,16081410,16077899,15919661,15870073,15843435,15778405,15653687,15618519,15542600,15489334,15471870,15271984,15097244,14997482,14729942,14654844,14557268,12885252,12750365,12679936,12639913,12624098,12552191,12507501,12486133,12477932,12456365,12435819,12379128,12351722,12163475,12130708,12130691,12123746,12107237,11762794,11517230,11309381,11278469,11042191,11040053,10896954,10884381,10861009,10858453,10852916,10754297,10744734,10727525,10722682,10617630,10574913,10467231,10379886,10091590,10085131,10085129,15051637,9618528,9501202,9446593,8885248,8662816,8195124,7876239,7836371,2037065,9211925,9826657,20807772,20443852,20460384,20443948,15569306,15620700,16094730,19292735,19487588,19620130,19815545,19846537,19906838,20080565,20468064,20627936,20493668,19913121,20628086,20730384,20814022 1580269,737775,632163,1625784,1625786,1625788,1625789,1625791,737776,1625790,4140391,4140399 156 NM_001619,AP001885,CH471076,EU326303,U08435,U08436,U08437,U08438,AB209588,AI888604,AK131506,BC037963,BC090863,CR616194,CR620940,DN989901,M80776,X61157 NP_001610,EAW74581,EAW74582,ACA05909,AAB60689,BAD92825,AAH37963,AAH90863,AAA58391,CAA43470,P25098,Q59F73,ABM82074,ABM85254 Hs.83636 BARK1|BETA-ARK1|FLJ16718|GRK2 G-protein coupled receptor kinase 2|beta-ARK-1|beta-adrenergic receptor kinase 1 protein-coding 730840 ADRBK2 adrenergic, beta, receptor kinase 2 The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq] 1580863,632163 8427589,19400979,19086053,18359007,18274673,18075471,18029348,17621168,17106420,15728711,15498832,15087239,14702039,12808434,12477932,12130708,11762794,11668182,11517230,11060299,10754297,10591208,10085131,9826657,8662816,7695743,1869533,20216086,19766236,20379614,20398908,20468064,19913121,20628086,20734064 632163 157 NM_005160,AL022329,CH471095,AK055687,AK058103,AK123767,AK124922,AK292234,AK310398,BC021221,BC029563,BC036797,BC063545,BX387339,CR617875,X69117 NP_005151,CAB45657,EAW59698,EAW59699,EAW59700,EAW59701,BAF84923,AAH36797,CAA48870,P35626,Q8N433 Hs.657494 BARK2|GRK3 G-protein-coupled receptor kinase 3|beta-ARK-2|beta-adrenergic receptor kinase 2 protein-coding 736707 ADRM1 adhesion regulating molecule 1 The protein encoded by this gene is an integral plasma membrane protein which promotes cell adhesion. The encoded protein is thought to undergo O-linked glycosylation. Expression of this gene has been shown to be induced by gamma interferon in some cancer cells. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20029029,16990800,11818576,8033103,19148532,18615678,18497817,17139257,17081983,16906146,16815440,16713569,16501559,15819879,15489334,14702039,12477932,11780052,10919708,20634424,20417181,18162577,18497827,18922472,18939944,19615732,19818731,20471946,20137344 11047 NM_007002,NM_175573,AL354836,CH471077,AK054985,AK297567,AK307459,AL558522,BC003059,BC010733,BC017245,BC093021,BR000321,CR591215,CR593414,CR594238,CR600340,CR601588,CR603214,CR604310,CR608688,CR616656,CR616946,CR618998,CR619277,CR619345,CR620862,CR623968,CR624663,CR626787,D64154,CR749213 NP_008933,NP_783163,CAC22308,EAW75375,BAG59959,AAH10733,AAH17245,FAA00246,BAA11023,Q16186,Q68E00,CAH18070,ABM84246,ABM87634 Hs.90107 ARM1|GP110|MGC29536|Rpn13 110 kDa cell membrane glycoprotein|ARM-1|M(r) 110,000 surface antigen|adhesion-regulating molecule 1|hRpn13|proteasomal ubiquitin receptor ADRM1|proteasome regulatory particle non-ATPase 13|regulatory particle non-ATPase 13|rpn13 homolog protein-coding 1316916 ADSL adenylosuccinate lyase Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1598762,1598766,1598760 8366112,16973378,11428554,18029348,18524658,17188615,15571235,15489334,15471876,15461802,15342556,12833398,12590570,12477932,12368987,12016589,11256614,10958654,10888601,10591208,10090474,9545543,9373149,9266401,9195976,20562859,8404037,8125298,1302001,1574589,19405474,19570815,19615732,20877624 1598762,1598766,1598760 158 NM_001123378,NG_007993,AF106656,AL022238,CH471095,AF067853,AF067854,AK225042,AK291091,AK298187,AK300705,AK308662,BC000253,BC018881,BP298407,CR456368,CR590245,CR594266,CR594779,CR599886,CR603727,CR609122,CR610943,CR613803,CR614973,CR616687,NM_000026,CR616911,CR619354,CR622395,CR623741,S60710,X65867 NP_000017,NP_001116850,AAC83935,CAI18983,CAQ08929,CAQ08930,EAW60375,EAW60376,EAW60377,AAC21560,AAC21561,BAF83780,BAG60458,BAG62384,AAH00253,CAG30254,AAC60603,CAA46696,CAA46697,P30566,Q71UA4,CAK54366,CAK54665,ABM84252,ABM87641 Hs.75527 AMPS|ASASE|ASL adenylosuccinase|adenylosuccinate lyase protein-coding 1321450 ADSS adenylosuccinate synthase Adenylosuccinate synthetase catalyzes the first committed step in the conversion of IMP to AMP [provided by RefSeq] 1580863 18029348,1592113,15786719,2004783,19115993,18721483,18469177,15489334,12477932,8887278,4436310,648524,1574589,20562859 159 NM_001126,AL591594,AL645465,CH471148,X66503,AK025514,AK303886,AK308749,BC012356,BG700800,CR620791,CR626347,BE538442,BI559850 NP_001117,CAI14036,CAI14037,CAI15031,EAW77102,EAW77103,CAA47123,BAG64822,AAH12356,P30520,Q5SY84,ACE87120,ACE86444 Hs.498313 ADEH|MGC20404 AMPSase 2|IMP--aspartate ligase 2|L-type adenylosuccinate synthetase|adSS 2|adenylosuccinate synthetase (Ade(-)H-complementing)|adenylosuccinate synthetase isozyme 2|adenylosuccinate synthetase, acidic isozyme|adenylosuccinate synthetase, liver isozyme protein-coding 1351020 ADSSL1 adenylosuccinate synthase like 1 ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 [PubMed 15786719]).[supplied by OMIM] 15786719,15489334,14702039,12477932,11560929,1574589 122622 NM_152328,NM_199165,AL583722,CH471061,AK095921,AK096124,AK096720,AY037159,BC032039,BC047904,BX248286,CR617087,CR620273 NP_689541,NP_954634,EAW81876,BAC04649,BAG53216,BAG53356,AAK67646,AAH32039,AAH47904,CAD62614,Q8N142 Hs.592327 FLJ38602 AMPSase 1|IMP--aspartate ligase 1|M-type adenylosuccinate synthetase|adSS 1|adenylosuccinate synthetase isozyme 1|adenylosuccinate synthetase, basic isozyme|adenylosuccinate synthetase, muscle isozyme protein-coding 1347850 ADTB1L1 adaptin, beta 1-like 1 10591208 23782 NG_002625,Z83839 ADTB1L1|dJ127L4.2 pseudo 1350660 ADTB1L2 adaptin, beta 1-like 2 10591208 23781 NG_002624,Z83839 ADTB1L2|dJ127L4.3 pseudo 1315812 AEBP1 AE binding protein 1 The adipocyte enhancer binding protein 1 is a transcriptional repressor with carboxypeptidase (CP) activity. This protein binds to a regulatory sequence, adipocyte enhancer 1 (AE-1), located in the proximal promoter region of the adipose P2 (aP2) gene, which encodes the adipocyte fatty-acid binding protein. It is characterized as a member of the regulatory B-like CP family. This protein seems to be activated by a novel mechanism, whereby the direct binding of DNA enhances its protease activity. Adipocyte-enhancer binding protein 1 may play a role in differentiated vascular smooth muscle cells. [provided by RefSeq] 1580863 19179605,16307171,14702039,12690205,12477932,11438679,10510298,9624159,8920928,20419060 165 CR598691,D86479,NM_001129,AC006454,CH236960,CH471128,AB209744,AF053944,AK090931,AK127541,AK296001,BC038588 BAA13094,Q8IUX7,NP_001120,EAL23768,EAW61119,BAD92981,AAC25585,BAG52248,BAC87026,BAG58775,AAH38588 Hs.439463 ACLP|FLJ33612 AE-binding protein 1|adipocyte enhancer binding protein 1|adipocyte enhancer-binding protein 1|aortic carboxypeptidase-like protein protein-coding 1316303 AEBP2 AE binding protein 2 737633 16344560,16189514,15225548,12477932,10329662 737633 121536 NM_153207,NM_001114176,AC091805,CH471094,AA195771,AB209384,AK025788,AK126973,AK131361,AK131410,BC015624,BC022220,CR599308,DB244333 NP_694939,NP_001107648,EAW96398,EAW96399,EAW96400,BAD92621,BAG54413,BAD18513,BAD18557,AAH15624,AAH22220,Q6ZN18,ABZ92093 Hs.126497 MGC17922 AE(adipocyte enhancer)-binding protein 2|AE-binding protein 2|adipocyte enhancer-binding protein 2|zinc finger protein AEBP2 protein-coding 1601976 AEN apoptosis enhancing nuclease 17207965,16171785,18264133,14702039,12477932,20429933 64782 NM_022767,AC013489,CH471101,AB209323,AF318330,AF327352,AK022546,AK022624,AK308119,BC005164,BC014407,BC020988,CA441442 ADQ32293,NP_073604,EAX02009,EAX02010,EAX02011,BAD92560,AAL55837,AAL56012,BAB14091,AAH05164,AAH14407,AAH20988,Q59FY6,Q8WTP8,Q8WYW8 Hs.436102 FLJ12484|FLJ12562|ISG20L1|pp12744 apoptosis-enhancing nuclease|interferon stimulated exonuclease gene 20kDa-like 1|interferon-stimulated 20 kDa exonuclease-like 1 protein-coding 737345 AES amino-terminal enhancer of split The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20676368,11390640,8365415,9809752,18438919,16713569,15057824,15006356,14702039,12477932,12441302,12050133,12030375,11748221,11416139,10748198,10660609,10395201,9887105,8889549,10825294,16169070,17353931,11266540,15489227,16002402,20163360,19460168,20936779 166 NM_001130,NM_198970,AC005944,CH471139,U88832,AF072902,AF269289,AK094591,AK095154,AK314713,BC113735,BC113737,BG696926,BG913049,BM550097,BM908356,CR591354,CR591743,CR594247,CR594475,NM_198969,CR594586,CR595893,CR596634,CR598322,CR599584,CR605502,CR606153,CR608829,CR609469,CR613028,CR616198,CR622685,CR625320,N23852,U04241,X73357,X73358,CR617074 NP_945320,NP_001121,NP_945321,AAC72103,EAW69341,EAW69342,EAW69343,EAW69344,EAW69345,EAW69346,EAW69347,AAD00654,AAC35517,AAG23172,BAG52894,BAG37257,AAI13736,AAI13738,AAA16223,CAA51768,Q08117,Q14CJ1,Q8WY48,ADR82903 Hs.515053 AES-1|AES-2|ESP1|GRG|GRG5|TLE5 amino enhancer of split|amino-terminal enhancer of split|gp130-associated protein GAM protein-coding 1353915 AEZ acrodermatitis enteropathica, zinc-deficiency type 1350331 AF8T AF8 temperature sensitivity complementing 169 1348567 AFA ankyloblepharon filiforme adnatum 170 1605642 AFAP1 actin filament associated protein 1 The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 18029348,17520695,16344560,15345747,15146197,14755689,12477932,12134071,11641786,11607843,10666339,9655255,9619827,7545969 60312 NM_198595,NM_001134647,AC004169,AC097381,AC112254,AC141931,AC144451,CH471131,AB209676,AF188700,AK127962,AK290807,AK297631,AL706541,BC015900,BC032777,BI561136,CA448961,CN308844,CR606819,D25248,DA605903,DB450895 NP_940997,NP_001128119,EAW82360,BAD92913,AAG17055,BAC87209,BAF83496,BAG60004,AAH32777,Q6ZRV0,Q8N556 Hs.529369 AFAP|AFAP-110|FLJ56849 110 kDa actin filament-associated protein|OTTHUMP00000155170|OTTHUMP00000217364|actin filament-associated protein 1|actin filament-associated protein, 110 kDa protein-coding 4107292 AFAP1AS AFAP1 antisense RNA (non-protein coding) 12477932 84740 AC004169,AC112254,BC004397,BC014113,BC043614,NR_026892 Hs.663029 AFAP1-AS|AFAP1AS miscrna 1606158 AFAP1L1 actin filament associated protein 1-like 1 17353931,16344560,14702039,12477932 134265 NM_152406,NM_001146337,AC012613,AC131025,CH471062,AK074185,AK094067,AK095980,BC040723,BC125093,BC125094,BM998635,DA792192 NP_689619,NP_001139809,EAW61787,BAB85011,BAC04277,BAC04664,AAH40723,AAI25094,AAI25095,Q8TED9 Hs.483793 FLJ36748|MGC149773 AFAP1-like protein 1|OTTHUMP00000223958|actin filament-associated protein 1-like 1 protein-coding 1321706 AFAP1L2 actin filament associated protein 1-like 2 17412687,15951569,15489334,15164054,14702039,12477932,11572484,16385451,20125193,20201926 84632 NM_032550,AC005383,AL133384,AL355302,CH471066,AB067501,AF474151,AK123108,AK291712,BC016403,BC024314,BC033212,BC035713,NM_001001936,AK294969,AK295538 NP_001001936,NP_115939,CAI40128,CAI40129,CAI14967,CAI14968,EAW49470,EAW49471,EAW49472,EAW49473,EAW49474,BAB67807,AAQ05765,BAG53870,BAF84401,AAH24314,AAH33212,Q8N4X5,BAH11936,BAH12099 Hs.501106 FLJ14564|KIAA1914|XB130 AFAP1-like protein 2|CTB-1144G6.4|actin filament-associated protein 1-like 2 protein-coding 1352828 AFD1 acrofacial dysostosis 1, Nager type 171 1317426 AFF1 AF4/FMR2 family, member 1 1580863 19956800,7689231,18977325,17889710,17581865,17301807,17130830,16551973,16433901,16386788,16215946,16169901,15302935,15231748,15221006,14990976,14562113,12477932,11930009,11236948,10671636,9880680,9389682,9326653,9233580,8769569,8506309,8443374,8353274,1423625,14603337,15856011,20379614,19913121,20628086,20864672 4299 AC092658,AC093779,AC093827,AJ238093,CH471057,X83606,Z83689,AF024541,AF031404,AF177236,AF177237,AF177238,AF177239,AF492832,AK296243,AK300364,BC017432,BC114930,L13773,L25050,NM_005935,AK296149,DC340279,NM_001166693 P51825,NP_005926,AAY40899,CAB52416,EAX05978,EAX05979,EAX05980,CAA58585,CAB69660,AAC51815,AAC14216,AAD56887,AAD56888,AAF09191,AAF09192,AAM33379,BAG58961,BAG62103,AAH17432,AAI14931,AAA58360,AAA36642,Q05D98,Q13718,Q14C88,Q6LA76,Q712L1,BAG58888,NP_001160165 Hs.480190 AF-4|AF4|AF4-MLL|MGC134969|MLL/AF4|MLLT2|PBM1 AF4/FMR2 family member 1|ALL1-fused gene from chromosome 4 protein|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, drosophila); translocated to, 2|pre-B-cell monocytic leukemia partner 1|protein AF-4|proto-oncogene AF4 protein-coding 1343236 AFF2 AF4/FMR2 family, member 2 1580863 20734064,17474147,8673086,18029348,17196195,15772651,12777533,12477932,11355014,11119302,10964075,10850542,10780779,10737800,10528856,10196698,9467002,9299237,9147647,8824884,8673085,7783162,1301146,19136466,7541938,8023854,8334699,8651274,8900249,9032643,9341861,9475603 2334 NM_002025,AB101711,AB101712,AB101713,AB101714,AB101715,AB101716,AB101717,AB101718,AB101719,AB101720,AB101721,AB101722,AB101723,AB101724,AB101725,AB101726,AB101727,AB101728,AB101729,AB101730,AC002368,AC005731,AC006516,AC015552,AC231841,AF012624,AF139979,CH471171,AB102644,AJ001550,AK301927,AK311467,BC132683,BC143740,BC143744,BI030785,L76569,U48436,X95463,NG_016313,NM_001169122,NM_001169123,NM_001169124,NM_001169125,NM_001170628 NP_002016,BAC80300,BAC80301,BAC80302,BAC80303,BAC80304,BAC80305,BAC80306,BAC80307,BAC80308,BAC80309,BAC80310,BAC80311,BAC80312,BAC80313,BAC80314,BAC80315,BAC80316,BAC80317,BAC80318,BAC80319,AAB71534,AAD45878,EAW61286,EAW61287,EAW61288,EAW61289,BAC81113,CAA04822,BAG63347,AAI32684,AAI43741,AAI43745,AAA99416,AAC82513,CAA64730,P51816,NP_001162593,NP_001162594,NP_001162595,NP_001162596,NP_001164099 Hs.496911 FMR2|FRAXE|MRX2|OX19 AF4/FMR2 family member 2|FMR2P|OTTHUMP00000024206|fragile X E mental retardation syndrome protein|fragile X mental retardation 2 protein|protein FMR-2 protein-coding 1318349 AFF3 AF4/FMR2 family, member 3 This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq] 1580863 20453842,8555498,19240061,18622426,18616733,17554260,15815621,15704140,15489334,15146197,14702039,12743608,12477932,12203795,8889548,8662235,19359276,20072139,20219786,20379614,20444755,20498205 3899 BC021283,BC036895,BC136579,BC144266,BI906088,BU740375,CN409428,U34360,NM_001025108,AC010736,AC018690,AC073118,AC092667,AC093373,AC114793,AC133108,CH471127,AB209634,AK055117,AK091320,AK092327,AK290468,AK297407,AK308645,NM_002285 AAH36895,AAI36580,AAI44267,AAA98763,P51826,Q8NAP7,NP_002276,NP_001020279,AAY14792,AAY24315,AAY24187,AAY24278,EAX01854,EAX01855,EAX01856,EAX01857,EAX01858,EAX01859,BAD92871,BAC03864,BAF83157,BAH12572 Hs.444414 LAF4|MLLT2-like AF4/FMR2 family member 3|MLLT2-related protein|OTTHUMP00000202880|OTTHUMP00000202881|lymphoid nuclear protein 4|lymphoid nuclear protein related to AF4|protein LAF-4 protein-coding 1601873 AFF4 AF4/FMR2 family, member 4 10588740,17389929,17081983,16344560,16189514,15489334,14702039,12477932,12065898,11355014,15856011,17643375,20159561,20379614,20471948,18029348 27125 AK126818,NM_014423,AC010240,CH471062,AA706988,AB209547,AF161355,AF173886,AF197927,AF213987,AK024831,AK055638,AK307407,BC025700,BC063007,BC100287,BC137226,BC144538,BX537585,DA934874,BC040454 NP_055238,EAW62301,EAW62302,EAW62303,EAW62304,EAW62305,BAD92784,AAF28915,AAQ13633,AAF18981,AAM00184,AAH25700,AAH63007,AAI00288,AAI37227,Q7Z2T0,Q8TAX5,Q9UHB7 Hs.519313,Hs.664840 AF5Q31|MCEF|MGC75036 AF4/FMR2 family member 4|ALL1 fused gene from 5q31|ALL1-fused gene from chromosome 5q31 protein|major CDK9 elongation factor-associated protein protein-coding 1345129 AFG3L1 AFG3 ATPase family gene 3-like 1 (S. cerevisiae) 1580863 17101804,16344560,14702039,12477932,11549317,9545647,19578364 172 NR_003228,NR_003226,NR_003227,AC092143,AJ001496,AF329691,AF329692,AF329693,AF329694,AJ001495,AK056488,AK090856,AK091293,AK091727,AK097044,AK126911,AK127143,AK128352,AK128804,AL832984,BC021245,BC045753,BC077734,BM986843,DA707802,DB318727 CAA04793,CAA04792,BAG51729,BAG52327,BAC04933,BAG54393,BAC86848,CAH56313 Hs.534773 AFG3|AFG3L1|FLJ45200 afg3 atpase family gene 3-like 1 (yeast) pseudo 1313183 AFG3L2 AFG3 ATPase family gene 3-like 2 (yeast) This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq] 1580863 18769991,19615732,19748354,20208537,10395799,18029348,15489334,12477932,16169070,20354562,20562859,16251216,20725928,20877624 10939 NM_006796,AP001029,AP005264,CH471113,AK129504,BC024282,BC065016,CR597170,Y18314,BU786821,BX091241,DN993083,NG_023361 NP_006787,EAX01551,EAX01552,AAH24282,AAH65016,CAB48398,Q8TA92,Q9Y4W6 Hs.726355 FLJ25993|SCA28 AFG3 (ATPase family gene 3, yeast)-like 2|AFG3-like protein 2|ATPase family gene 3, yeast|ATPase family gene 3-like 2|paraplegin-like protein|spinocerebellar ataxia 28 protein-coding 3457950 AFG3L2P1 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) pseudogene 1 347028 AC022616,NG_016585 AFG3L2P pseudo 1352528 AFM afamin This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq] 1580863 7517938,19046407,16740002,16335952,16199891,15952736,15489334,14760718,12477932,12463752,12063119,10400926,8755513,8648639,7875606,7035619,4041902,37276,19336561,20858448 173 NM_001133,AC108157,AC110752,CH471057,U51243,AK290556,BC109020,BC109021,L35486,L35497,L35498 NP_001124,AAY41051,EAX05682,AAC50720,BAF83245,AAI09021,AAI09022,AAA68197,AAA68198,AAA68199,P43652,Q4W5C5 Hs.168718 ALB2|ALBA|ALF|MGC125338|MGC125339 afamin|alpha-Alb|alpha-albumin protein-coding 1606470 AFMID arylformamidase 14704851,12477932,21048031 125061 NR_027083,NM_001010982,NM_001145526,AC087645,CH471099,BC020920,BC132824,BC142973,BX647783,BX648442,CR611538 NP_001010982,NP_001138998,EAW89509,EAW89510,AAI32825,AAI42974,CAH56149,Q63HM1,ACE87637,ACE86948,ADR82911 Hs.558614 DKFZp686F03259|KF|MGC167063 kynurenine formamidase|probable arylformamidase protein-coding 736278 AFP alpha-fetoprotein This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq] 2292039,2292042,2292040,2292037,2292041,2292038,1300268,1580863 20363333,20495646,20149523,19383238,19362088,19343004,19241193,19225928,19206006,19160651,19038010,19003875,18802946,18657899,18609108,18577995,18563566,18551609,18485897,18479159,18466288,18354237,18422961,18316609,18407604,18194454,17852813,17535089,17465484,17433605,17275497,17237442,17197899,17188819,17175354,17175353,16892178,16882993,16869888,16627685,16203738,15993394,15906357,15849812,15489334,15305374,15280901,15265907,15040024,15028291,15001643,14714299,14622304,12835590,12804197,12615827,12503217,12499776,12477932,12361680,12176010,12167706,12006569,11861398,11788893,11764100,9891062,7684942,7532927,7524678,7519015,6193792,6192711,6192439,6187626,6085063,4138095,2580830,2474300,2445387,2436661,2414772,1709810,1703124,1371512,89900,80265,71198,70228,16169070,17626741,18184471,19093203,19184104,19197197,19426602,19437037,19457604,19494365,19501957,19574883,19615732,19785658,19968979,20070666,20101856,20414942,20796153,20740583,20532728 2292039,2292042,2292040,2292037,2292041,2292038,1300268 174 NM_001134,AC108157,CH471057,M10949,M10950,M16110,Z19532,AK297669,AK297674,AK314817,BC027881,CR602918,CR603328,CR608054,CR608871,CR610573,CR616557,CR618771,CR621004,CR625428,CR625429,V01514,NG_023028 NP_001125,EAX05681,AAA51674,AAA51675,AAB58754,CAA79592,BAG60031,BAG60036,BAG37340,AAH27881,CAA24758,P02771,ABM81868,ABM85029 Hs.518808 FETA|HPAFP OTTHUMP00000220440|alpha-1-fetoprotein|alpha-fetoglobulin|alpha-fetoprotein protein-coding 1606558 AFTPH aftiphilin 15758025,18815278,16964243,15811338,15489334,15302935,14702039,18029348,12477932,9373149,8889548,8125298,16344560,14665628 54812 AA583062,DA227019,DA815479,NM_203437,NM_017657,NM_001002243,AC008074,CH471053,AB073356,AK000087,AK021899,AK024658,AK222821,AL833962,AY367088,BC022247,BC047529,BM668634,BX504505 NP_982261,NP_060127,NP_001002243,EAW99937,EAW99938,EAW99939,EAW99940,EAW99941,BAE45715,BAA90936,BAB13930,BAB14949,BAD96541,CAE46209,AAR14726,AAH22247,AAH47529,Q3LIF3,Q53GW0,Q6ULP2,Q9HBR8 Hs.655167 FLJ20080|FLJ23793|MGC33965|Nbla10388 OTTHUMP00000159936|OTTHUMP00000202186|aftiphilin|aftiphilin protein|putative protein product of Nbla10388 protein-coding 1320096 AGA aspartylglucosaminidase Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. [provided by RefSeq] 1580863,1598773 1703489,2775174,2401370,19100247,18992224,16435229,15815621,15489334,15365992,14616088,12477932,11309371,10444340,9737998,9362483,9137882,8846222,8830180,8776587,8702913,8457202,8405810,8002961,7852406,7685790,6883788,2265705,2039475,2011603,1904874,1864600,1840528,1765378,1733831,1530592,1301945,1281977,15174051,16344560,8889548,18029348 1598773 175 NM_000027,NG_011845,AC027627,AC078881,CH471056,S83096,U21273,U21274,U21275,U21276,U21277,U21278,U21279,U21280,U21281,X61959,AK303370,AK312982,BC012392,CR541715,CR592694,CR599662,CR607548,M60808,M60809,M64073,M64075,M64076,X55762,X73071,AA490958,AW467768,BM968469,CX869892,DA346002,DA905583,NM_001171988,NR_033655 NP_000018,AAY40915,EAX04712,EAX04713,EAX04714,EAX04715,AAD14424,AAB60655,CAA43958,BAG64427,BAG35819,AAH12392,CAG46516,AAA35901,AAA35902,AAA35903,AAA35904,AAA35905,CAA39288,CAA51529,P20933,Q6LD43,ABM82279,ABM85460,NP_001165459 Hs.207776 AGU|ASRG|GA N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase|N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase|aspartylglucosylamine deaspartylase|glycosylasparaginase protein-coding 1319477 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 CENTG2 belongs to an ADP-ribosylation factor GTPase-activating (ARF-GAP) protein family involved in membrane traffic and actin cytoskeleton dynamics (Nie et al., 2002 [PubMed 12388557]).[supplied by OMIM] 1580863 16341674,18003747,16079295,15892143,15381706,14702039,12967569,12640130,12477932,12388557,10470851 116987 NM_014914,NM_001037131,AC012305,AC019047,AC064874,AC073989,AC079400,CH471063,AB029022,AF413078,AK001722,AK295520,AK300763,AY033765,BC060814,BC140856,BC167153,BC167157,BI868924,BM752978,CB961699 NP_055729,NP_001032208,AAX88857,AAX88852,AAY24137,AAY14697,EAW71078,EAW71079,BAA83051,AAL04172,BAA91862,BAG58435,BAG62428,AAK56506,AAH60814,AAI40857,AAI67153,AAI67157,Q4ZG22,Q4ZG54,Q53RW1,Q53S93,Q9UPQ3 Hs.435039 CENTG2|GGAP1|KIAA1099|MGC71657 AGAP-1|Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1|GTP-binding and GTPase-activating protein 1|OTTHUMP00000203179|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1|centaurin, gamma 2|centaurin-gamma-2|cnt-g2 protein-coding 1349982 AGAP10 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 728127 XM_001714786,AL391137 XP_001714838,CAI12206,Q5T2P9 CTGLF7|bA144G6.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10|OTTHUMP00000019523|centaurin, gamma-like family, member 7 protein-coding 2301267 AGAP11 ankyrin repeat and GTPase domain Arf GTPase activating protein 11 14702039,12477932,11853319 119385 NM_133447,AL136982,CH471142,AB075855,AK097165,BC062776,BC140762 NP_597704,EAW80307,EAW80308,EAW80310,EAW80311,BAB85561,AAH62776,AAI40763,Q6P5Q0,Q8TF27 Hs.511787 KIAA1975 AGAP-11|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 protein-coding 1349110 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 1580863 19318351,19176382,18487454,18469807,18374643,18371979,17461797,17297440,17151107,17037982,16841086,16263930,16150119,16079295,15951849,15489334,15118108,14761976,14702039,14528310,12640130,12477932,12388557,11823862,9192850,8724849,17891137,18029348,11136977,20551179 116986 NM_014770,NM_001122772,AC025165,CH471054,U81031,AF384128,AF413077,AK122827,AK292672,AY128689,BC028020,CR625050,D79989 NP_055585,NP_001116244,EAW97048,EAW97049,EAW97050,EAW97051,AAC39522,AAO39848,AAL04171,BAG53747,BAF85361,AAM97540,AAH28020,BAA11484,Q99490 Hs.302435,Hs.632854 CENTG1|FLJ16430|GGAP2|KIAA0167|PIKE AGAP-2|Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2|GTP-binding and GTPase activating protein 2|GTP-binding and GTPase-activating protein 2|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2|centaurin, gamma 1|centaurin-gamma-1|cnt-g1|phosphatidylinositol-3-kinase enhancer|phosphoinositide 3-kinase enhancer protein-coding 1321839 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 1580863 16964243,16461359,15381706,14702039,14506264,12690205,12640130,12477932 116988 NM_001042535,NM_031946,AACC02000108,AC010973,CH471173,AB209781,AF359283,AF413079,AK027415,AK055393,AK091771,AK096352,AL442089,BC020426,BC037543,BC044644,BC048300,BC069236,BU615528,CR624366 NP_001036000,NP_114152,EAL24502,EAW54024,EAW54025,EAW54026,EAW54027,EAW54028,EAW54029,BAD93018,AAK48932,AAL04173,BAB55097,BAG51510,BAC04766,CAC09448,AAH44644,AAH48300,Q6ZNF7,Q86ST5,Q86XV5,Q8N8Q2,Q96P47,Q96T14,Q9H3X2,ACE87128,ACE86452 Hs.647075 CENTG3|CRAG|FLJ16146|FLJ34452|MRIP-1 AGAP-3|CRAM-associated GTPase|CRMP (collapsin response mediator protein) associated|MR1-interacting protein|OTTHUMP00000213334|OTTHUMP00000213335|OTTHUMP00000213336|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3|centaurin, gamma 3|centaurin-gamma-3|cnt-g3 protein-coding 1344826 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 737633 20139978,12477932 737633 119016 NM_133446,AC012044,CH471160,AF411132,BC048341,BC062366 NP_597703,EAW86657,EAW86658,EAW86659,EAW86660,EAW86661,EAW86662,EAW86663,EAW86664,AAL10290,AAH48341,Q86XV2,Q96P64 Hs.656384 CTGLF1|MRIP2 AGAP-4|ARF GTPase-activating protein|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4|centaurin, gamma-like family, member 1|centaurin-gamma-like family member 1 protein-coding 1348213 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 12477932 729092 NM_001144000,AC022400,AC073389 NP_001137472,A6NIR3 Hs.651147 CTGLF2 AGAP-5|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5|centaurin, gamma-like family, member 2|centaurin-gamma-like family member 2 protein-coding 1349976 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 12477932 414189 NM_001077665,AL442003,BC131545 NP_001071133,CAH72489,Q5VW22 Hs.620085 CTGLF3|bA324H6.1 AGAP-6|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6|centaurin, gamma-like family, member 3|centaurin-gamma-like family member 3 protein-coding 1353426 AGAP7 ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 653268 NM_001077685,AL589822 NP_001071153,CAH70062,Q5VUJ5 Hs.528346 CTGLF4|bA109G10.1 AGAP-7|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7|centaurin, gamma-like family, member 4|centaurin-gamma-like family member 4 protein-coding 1344869 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 12477932 728404 NM_001077686,AL672187,BC051717 NP_001071154,CAI16094,Q5SRD3 Hs.536192 CTGLF5 AGAP-8|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8|centaurin, gamma-like family, member 5|centaurin-gamma-like family member 5 protein-coding 1348214 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 14702039,12477932 642517 AL591684,AK160375,BC020871,BC032492,BC171845,BC171847,NM_001190810 CAH72201,BAD18718,Q5VTM2,Q6ZMK7,NP_001177739 Hs.645346,Hs.655950 AGAP-9|CTGLF6|FLJ00312|bA301J7.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9|OTTHUMP00000019531|arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9|centaurin, gamma-like family, member 6|centaurin-gamma-like family member 6 protein-coding 1345768 AGBL1 ATP/GTP binding protein-like 1 18347602,16543943,16344560,14702039,12477932,20379614 123624 NM_152336,AC012229,AC016180,AC016987,AC018950,AC022817,AC025842,AC069197,AC078905,AC107978,CH471101,AK056872,BC128152,DA695799,DV080155,DV080218,DV080486,DV080541,DY655391,DY655510 NP_689549,EAX01983,EAX01984,BAB71299,AAI28153,Q96MI9 Hs.679833 FLJ32310|MGC149239 ATP/GTP-binding protein-like 1|OTTHUMP00000195714|cytosolic carboxypeptidase 4 protein-coding 1602682 AGBL2 ATP/GTP binding protein-like 2 20308539,15489334,14702039,12738998,12477932,9373149,8125298,18029348 79841 NM_024783,AC021443,CH471064,AK027251,AK056687,AK223171,AK223176,AK303066,AK303875,BC028200,BC036234 NP_079059,EAW67889,EAW67890,EAW67891,BAB15707,BAD96891,BAD96896,BAG64183,BAG64813,AAH28200,AAH36234,Q5U5Z8 Hs.147377 FLJ23598 ATP/GTP-binding protein-like 2|cytosolic carboxypeptidase 2 protein-coding 1604170 AGBL3 ATP/GTP binding protein-like 3 15489334,14702039,12853948,12477932,17244817,20379614 340351 NM_178563,AC083862,AC083870,AC090497,CH236950,CH471070,AA707617,AK021841,AK023045,AK302827,AL832281,BC030651 NP_848658,EAW83838,BAB14371,BAH13813,AAH30651,Q8NEM8,EAW83837 Hs.648616 FLJ12983|MGC32955 ATP/GTP-binding protein-like 3|cytosolic carboxypeptidase 3 protein-coding 1606202 AGBL4 ATP/GTP binding protein-like 4 19240061,16710414,14702039,12477932,20379614 84871 AC097062,AC099788,AL355809,AL390023,AL391844,AL590432,AL591602,AL645507,AL645730,CH471059,AF075049,AK027348,AK094826,AK294394,AK294633,AK296221,BC035739,BC126383,NM_032785,BC144171,AC092264,AC105766,AL031294,AL356789,AL356916,AL445527 NP_116174,CAI22166,CAI22167,CAI23365,CAI23366,CAI23367,CAI13520,CAI13521,CAH70510,CAH70511,CAH70512,CAI19137,CAI19138,CAI19139,CAI14371,CAI14372,CAI17069,CAI17070,CAI17071,EAX06847,BAB55053,BAG52938,BAG57648,BAG57812,BAG58944,AAI26384,A0AVJ2,Q5VU57,Q96K85 Hs.551844,Hs.679809 CCP6|FLJ14442 ATP/GTP-binding protein-like 4|OTTHUMP00000009460|OTTHUMP00000009778|cytosolic carboxypeptidase 6 protein-coding 1605057 AGBL5 ATP/GTP binding protein-like 5 16344560,14702039,12477932,11256614,16712791,19913121,20628086 60509 NM_021831,NM_001035507,AC013403,AC013472,CH471053,AI990522,AK023398,AK025492,AL833844,BC007415,BC018562,BC018584,BC062326,CB155754,CR592951,CR596269,CR599448,CR603688,CR625656,DA901318,AK302091 NP_068603,NP_001030584,AAX93164,AAY14655,EAX00649,EAX00650,EAX00651,EAX00652,EAX00653,BAB14560,BAB15151,CAD38704,AAH07415,Q8NDL9,BAH13623 Hs.138207 FLJ21839 ATP/GTP-binding protein-like 5|cytosolic carboxypeptidase-like protein 5 protein-coding 737312 AGER advanced glycosylation end product-specific receptor This gene encodes a member of the immunoglobulin superfamily of cell surface molecules. It is a receptor for various molecules, including the amyloidogenic form of serum amyloid A, amyloid-beta protein, members of the S100/calgranulin superfamily and advanced glycation end products. The gene lies within the major histocompatibility complex (MHC) class III region on chromosome 6. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1566451,1625335,1625342,1625346,1625338,1625343,1625348,1625333,1625341,1331525,1300365,1625339,1300270,1580863,2325651,2325657,2325643,2325645,2325647,2325653 20684319,19587357,19501570,19448391,19440065,19380826,19380603,19332646,19285601,19284577,19277685,19275767,19252206,19217891,19217461,19204726,19183936,19167759,19143821,19143681,19103440,19071026,19061941,19032093,19005067,18987644,18977241,18952609,18948101,18926539,18922799,18854308,18825489,18796298,18789567,18777492,18775683,18701333,18698218,18689872,18667420,18660489,18657529,18645306,18615900,18606705,18603587,18595673,18593464,18576917,18575614,18550199,18519797,18480271,18477569,18458846,18438937,18431028,18427074,18421017,18355449,18339893,18322992,18302220,18279705,18279703,18256374,18245812,18231794,18179750,18089847,18080716,18079965,18079485,18078623,18058469,18050248,18046662,18032526,17924846,17714874,17700210,17661837,17660747,17640970,17639302,17613396,17601350,17593216,14580673,14574404,14571699,14501001,12941744,12935895,12909002,12859967,12837757,12671312,12651613,12618340,12606536,12598893,12579287,12495433,12477932,12477623,12475402,12070776,12029499,11961018,11884895,11811511,11739380,17592553,11700025,11375354,16061848,17474147,1378843,10835680,10399917,17560613,17549666,17536039,17512509,17508727,17497647,17434489,17425804,17405935,17355942,17345061,17343760,17237617,17224333,17218539,17172923,17170388,17158877,17035340,17024691,17004092,16969649,16969646,16954682,16954185,16899960,16847147,16728681,16644647,16493495,16440015,16374460,16286548,16271939,16166741,16159602,16127291,16052547,16037279,15986224,15944249,15942086,15942078,15930093,15926115,15915542,15911356,15896660,15893388,15803111,15798956,15790669,15666359,15663911,15599399,15555779,15547674,15539404,15489334,15448098,15289604,15247020,15239215,15213278,15203887,15180953,15170618,15155381,15127201,15053925,15052533,15033494,15019601,15009731,14747204,17588956,14704946,14656967,14617629,14595542,20028692,20578941,20630999,20372816,20410680,19088375,19201044,20215707,11007787,10521570,9812979,9734395,9195959,8787669,8751438,7887450,7835890,7713518,20414834,20504772,20507991,20512925,19376511,10391939,16716307,19129693,19133252,19386136,19439163,19451748,19530996,19542745,19571577,19576587,19578796,19591173,19616266,19635564,19659809,19672558,19679874,19766904,19786934,19815443,19820033,19822091,19851445,19876719,19890027,19906677,19909734,19910580,19944695,19945761,19948975,19998499,20010834,20010835,20028726,20031245,20040351,20051912,20112183,20171262,20185929,20353610,20398646,19405075,21067489,20541603,20627100,21086782,19913121,20359471,20485444,20522598,20567859,20568058,20628086,20726326,20739563,20928981,20492604,20943659,20537326,20074734,10531386 1566451,1625335,1625342,1625346,1625338,1625343,1625348,1625333,1625341,1331525,1300365,1625339,1300270,2325651,2325657,2325643,2325645,2325647,2325653 177 NM_001136,NM_172197,AF001095,AF065211,AF065212,AF208289,AJ238896,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,CS300822,D28769,U89336,AB036432,AB061668,AB061669,AF536236,AF536237,AF537303,AJ133822,EU826618,EU826619,EU826620,FJ545655,M91211,AK298100,AK313178,AY755619,AY755620,AY755621,AY755622,AY755623,AY755624,AY755625,AY755626,AY755627,AY755628,BC020669,DQ104251,DQ104252,DQ104253,DQ104254,EU117141,EU428811,EU428812,EU428813,EU428814,EU428815,EU428816,EU826616,EU826617 NP_001127,NP_751947,AAD15888,AAD15889,AAG35728,CAB43094,CAI17535,CAI17536,CAI18354,CAI18355,CAI41809,CAI41810,CAI41811,CAM26223,CAM26224,CAM26225,CAQ06595,CAQ06596,CAQ06597,EAX03610,EAX03611,CAK32486,BAA05958,AAB47491,BAA89369,BAC65465,BAC65466,AAQ10685,AAQ10686,AAQ10782,CAB43108,ACF47654,ACF47655,ACF47656,ACL80027,AAA03574,O95795,Q101R2,Q101R3,Q101R5,Q15109,Q3L1R2,Q3L1R3,Q3L1R4,Q3L1R5,Q3L1R6,Q3L1R7,Q3L1R8,Q3L1S0,Q5JP26,Q5SSZ2,Q5SSZ3,Q71BB6,Q71BG7,Q71UQ2,Q86SN1,Q9UQR5,ABM84501,ABM87820,BAG60385,BAG35995,AAX07272,AAX07273,AAX07274,AAX07275,AAX07276,AAX07277,AAX07278,AAX07279,AAX07280,AAX07281,AAH20669,AAZ32412,AAZ32413,AAZ32414,AAZ32415,ABV03807,ACE78167,ACE78168,ACE78169,ACE78170,ACF47652,ACF47653 Hs.534342 MGC22357|RAGE OTTHUMP00000174885|advanced glycosylation end product-specific receptor|receptor for advanced glycosylation end products|receptor for advanced glycosylation end-products protein-coding 1321481 AGFG1 ArfGAP with FG repeats 1 The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20936779,7634337,11545741,7637788,18819912,18775314,17081983,16903783,15815621,15749819,15489334,14702039,14701878,14554087,12477932,12429849,10737800,10613896,10358091,9500467,9368759,9303539,9070945,8943370,8805303,8633082,16354571,11854271,18029348,19262425 3267 NM_004504,NM_001135187,NM_001135188,NM_001135189,AC097662,AC105286,CH471063,L42025,AA676544,AI742626,AI955214,AK097451,AK295030,BC030592,BC039332,BC045581,BC096272,BC096273,BC096274,BC096275,BE843894,BM474292,BQ016135,BX648387,CB990608,CR607049,CR622898,DB456989,X89478 NP_004495,NP_001128659,NP_001128660,NP_001128661,AAY24254,AAX93270,EAW70871,EAW70872,AAC37580,BAG53473,BAG58086,AAH30592,AAH96272,AAH96273,AAH96274,AAH96275,CAA61667,P52594 Hs.352962 DKFZp686I15205|HRB|MGC116938|MGC116940|RAB|RIP HIV-1 Rev binding protein|HIV-1 Rev-binding protein|OTTHUMP00000204060|OTTHUMP00000204061|OTTHUMP00000204062|Rab, Rev/Rex activation domain-binding protein|arf-GAP domain and FG repeats-containing protein 1|hRIP, Rev interacting protein|nucleoporin-like protein RIP|rev-interacting protein|rev/Rex activation domain-binding protein protein-coding 1315293 AGFG2 ArfGAP with FG repeats 2 This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. The 3' UTR of this gene contains an insulin receptor substrate 3-like pseudogene. [provided by RefSeq] 1580863 15489334,14702039,12690205,12477932,10613896,9799793,9303539,8889548,7568168 3268 BU608908,CR597239,CR611659,CR626460,AC069281,AF053356,CH236956,CH471091,AF015042,AK057758,AK090744,AK314954,BC009393,BC017329,BC047227,BF314987,NM_006076 NP_006067,O95081,AAC78803,EAL23829,EAW76522,EAW76523,EAW76524,EAW76525,AAD01550,BAG37459,AAH09393,AAH17329 Hs.521083 HRBL|RABR HIV-1 Rev binding protein-like|HIV-1 Rev-binding protein-like protein|Rev/Rex activation domain binding protein-related|arf-GAP domain and FG repeats-containing protein 2|nucleoporin|rev/Rex activation domain-binding protein related protein-coding 1350142 AGGF1 angiogenic factor with G patch and FHA domains 1 The AGGF1 gene encodes a potent angiogenic factor that contains a forkhead-associated domain and a G-patch domain (Tian et al., 2004 [PubMed 14961121]).[supplied by OMIM] 737633 14961121,15486042,15905966,18564129,17103452,16911369,16443853,16189514,15489334,14702039,12477932,10737800,19556247,19615732 737633 55109 NM_018046,AC008581,AY500996,CH471084,AK001145,AK097255,AK289394,AW500409,AW958325,AY500994,BC002828,BC015478,BC029382,BC032844,BC073864,BE077189,BI561566,BM998072,BX648120,CF994178,U84971,NG_027822,AI453097,DR157679 NP_060516,AAR97617,EAW95787,EAW95788,EAW95789,BAA91519,BAF82083,AAR97615,AAH02828,AAH15478,AAH29382,AAH32844,AAB60856,Q6PIK7,Q8N302 Hs.634849 FLJ10283|GPATC7|GPATCH7|HSU84971|HUS84971|VG5Q|hVG5Q G patch domain-containing protein 7|angiogenic factor VG5Q|angiogenic factor with G patch and FHA domains 1|vasculogenesis gene on 5q protein protein-coding 3398757 AGGF1P1 angiogenic factor with G patch and FHA domains 1 pseudogene 1 100132380 AF146191,NG_022094,U85056 pseudo 3476565 AGGF1P2 angiogenic factor with G patch and FHA domains 1 pseudogene 2 644435 AL731696,NG_005569 pseudo 2881504 AGGF1P3 angiogenic factor with G patch and FHA domains 1 pseudogene 3 391552 AC108724,NG_022208 pseudo 3302159 AGGF1P4 angiogenic factor with G patch and FHA domains 1 pseudogene 4 100129351 AC007353,NG_022503 pseudo 1352363 AGK acylglycerol kinase 20877624,18004883,17135245,16344560,16269826,15939762,15489334,15252046,14702039,12853948,12690205,12477932,9373149,8125298,16169070,19549252 55750 NM_018238,AC004918,AC073878,AC099547,CH236950,CH471070,AJ278150,AK001704,AK222769,AK299131,AK304502,BC009775,BC022777,CR603206,CR625177,DB032353 NP_060708,AAS07537,AAS07538,EAL24020,EAW83972,EAW83973,CAB93536,BAA91848,BAD96489,BAG61184,BAG65310,AAH09775,AAH22777,Q53H12,Q75KN0 FLJ10842|MULK OTTHUMP00000212224|OTTHUMP00000212226|acylglycerol kinase, mitochondrial|hAGK|hsMuLK|multi-substrate lipid kinase|multiple substrate lipid kinase protein-coding 2794508 AGKP1 acylglycerol kinase pseudogene 1 12815422,9847074 359793 AC010979,NG_002810 AGKY1 pseudo 1314958 AGL amylo-1, 6-glucosidase, 4-alpha-glucanotransferase This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq] 1566516,1642741,1642743,2304191,1331525,1598779,1598784,1601129 18029348,20800603,20562859,20648714,9691087,1374391,18924225,17915576,17908927,17047887,15886229,15489334,14718574,12477932,11924557,11378828,10982190,10925384,10571954,9490286,9412782,9332391,8990006,8954797,8755644,8702417,2295969,1505983,933239,15833157,19299494,19754354,19834502,20158661,20379614 1566516,1642741,1642743,2304191,1331525,1598779,1598784,1601129 178 NM_000028,NM_000643,NM_000644,NM_000646,NM_000645,AB035443,AC096949,CH471097,AB208867,AK130308,BC020705,BC057220,NM_000642,BC078663,C00487,M85168,U84007,U84008,U84009,U84010,U84011,NG_012865 NP_000633,NP_000019,NP_000634,NP_000635,NP_000637,NP_000636,BAA88405,EAW72980,EAW72981,EAW72982,EAW72983,EAW72984,EAW72985,EAW72986,EAW72987,BAD92104,AAH78663,AAB41040,AAB48466,AAB48467,AAB48468,AAB48469,AAB48470,P35573 Hs.904 GDE OTTHUMP00000012504|amylo-1, 6-glucosidase, 4-alpha-glucanotransferase|glycogen debrancher|glycogen debranching enzyme protein-coding 1318183 AGMAT agmatine ureohydrolase (agmatinase) 1580863 8125298,9373149,16710414,16511187,15489334,15028567,14702039,14648699,12477932,11914032,11804860,9758718,20379614,20808825,20877624 79814 NM_024758,AL121992,CH471167,AK130034,AK225366,AY057097,BC005090,BM788254,U58668 NP_079034,CAI22366,EAW51735,EAW51736,EAW51737,EAW51738,AAL24446,AAH05090,Q9BSE5,ABM84456,ABM87745 Hs.567583 FLJ23384 AUH|agmatinase, mitochondrial protein-coding 1346834 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) 179 1348475 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq] 1580863 9461603,19143821,17707131,16870193,16571775,15489334,14702039,14656967,14574404,12477932,11487472,9450025,9291118,9212163,9110174,8619474,16341674,16344560,19851445,8944226 10554 NM_006411,AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89336,AF007145,AF218034,AK056346,AK058025,AK129818,AK299252,NM_032741,AK315950,BC002402,BC003007,BC004310,BC006818,BC090849,CR595752,CR600479,CR602928,CR622553,CR623567,U56417,U75971,Y09565,AI193422,BM763275,DA529681,DB118884 NP_116130,NP_006402,CAI17430,CAI18347,CAI41807,CAM26221,CAQ06593,EAX03599,EAX03600,EAX03601,EAX03602,EAX03603,EAX03604,EAX03605,EAX03606,CAQ10697,CAQ09622,AAB47493,AAC19153,AAG17276,BAG51685,BAG61283,BAH14321,AAH02402,AAH03007,AAH04310,AAH90849,AAB58775,AAB96378,CAA70758,Q71VH6,Q99943,Q9HBM8 Hs.409230 1-AGPAT1|G15|LPAAT-alpha|LPAATA|MGC4007|MGC5423 1-AGP acyltransferase 1|1-AGPAT 1|1-acyl-sn-glycerol-3-phosphate acyltransferase alpha|1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase)|lysophosphatidic acid acyltransferase alpha|lysophospholipid acyltransferase protein-coding 1319453 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863,1598407,1598785 9461603,9242711,9212163,18698612,18155601,16870193,16435205,15841084,15629135,15489334,15181077,15146197,15028826,14602785,12477932,11967537,10487716,9291118,19226263,19278620,8944226 1598785 10555 CN407343,CR590402,CR590462,CR592360,CR597301,CR598618,CR601358,CR602303,CR603192,CR605868,CR611946,CR615685,CR623942,CR624126,CR625982,U56418,BF347518,NM_001012727,NM_006412,NG_008090,AL590226,CH471090,AF000237,AF011374,BC000026,BC004529,BC007269,BC019292 AAB58776,O15120,Q8WUW2,Q96IS9,ABM83072,ABM86268,NP_001012745,NP_006403,CAH71722,CAH71723,EAW88249,EAW88250,EAW88251,EAW88252,AAC51649,AAB64299,AAH00026,AAH04529,AAH07269,AAH19292 Hs.320151 1-AGPAT2|BSCL|BSCL1|LPAAB|LPAAT-beta 1-AGP acyltransferase 2|1-AGPAT 2|1-acyl-sn-glycerol-3-phosphate acyltransferase beta|1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta)|lysophosphatidic acid acyltransferase beta|lysophosphatidic acid acyltransferase-beta protein-coding 1314029 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 11487472,17207965,20537980,12107412,15367102,16620771,16780588,15489334,14702039,12975309,12477932,19635840,20379614 56894 BC040603,BC063552,BM083518,BM476336,CD672915,NM_001037553,AB001523,AP001053,AP001054,CH471079,AB040138,AF156774,AF156775,AK026135,AK074300,AK125804,AK300562,AL109795,AL355720,AL355721,AL832919,AY358704,BC004219,BC004413,BC011971,BC013167,BC026047,NM_020132 ADQ31993,AAH40603,AAH63552,Q8TEB0,Q9NRZ7,NP_064517,NP_001032642,EAX09461,EAX09462,EAX09463,EAX09464,EAX09465,BAB18943,AAF80336,AAF80337,BAB85042,BAC86299,BAG62268,CAD38635,AAQ89067,AAH11971 Hs.248785 LPAAT-GAMMA1|MGC4604 1-AGP acyltransferase 3|1-AGPAT 3|1-acyl-sn-glycerol-3-phosphate acyltransferase gamma|OTTHUMP00000109482|OTTHUMP00000109485|OTTHUMP00000109487|lysophosphatidic acid acyltransferase gamma|lysophosphatidic acid acyltransferase-gamma1 protein-coding 1354001 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq] 1580863 15367102,11487472,17474147,15489334,14574404,12975309,12477932,9828130,17207965,20379614 56895 AL109942,CH471051,AF156776,AJ227890,AJ227891,AJ420473,AK074208,AK295025,AK295548,AK295826,AK297636,AK299721,AL122123,AL832128,AY358506,BC013410,BC020209,BQ072907,CR590247,CR609642,CR612654,CR615061,CR615644,CR621965,CR623504,CR627395,NM_020133 Q9NRZ5,ADQ32161,Q6PJN9,NP_064518,CAI21475,CAI21478,CAI21480,EAW47577,EAW47578,EAW47579,EAW47580,EAW47581,EAW47582,EAW47583,AAF80338,BAG58081,BAG58454,BAG58643,BAG60008,BAG61621,AAQ88870,AAH13410,AAH20209,CAH10489,Q6AI25 Hs.353175 1-AGPAT4|LPAAT-delta|RP3-473J16.2|dJ473J16.2 1-AGP acyltransferase 4|1-AGPAT 4|1-acyl-sn-glycerol-3-phosphate acyltransferase delta|lysophosphatidic acid acyltransferase delta|lysophosphatidic acid acyltransferase-delta (LPAAT-delta) protein-coding 1347516 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq] 1580863 15367102,11487472,11256614,16620771,16381901,16341674,15489336,15489334,14702039,12477932,11230166,11076863,20379614,20877624 55326 NM_018361,AF287957,CH471153,CQ834440,CQ834528,AF375789,AK002072,AK021722,AK310545,AL136587,AL514578,BC023550,BC068519,BC080537,BM837881,CA414711,CR608096,CR611576,CR621552,CR624453 NP_060831,EAW80476,EAW80477,EAW80478,CAH05435,CAH05479,AAK54809,BAA92069,CAB66522,AAH23550,AAH68519,AAH80537,Q6NUM7,Q9NUQ2,CAL37777,CAL37936,ABM84362,ABM87746 Hs.624002 1AGPAT5|LPAATE 1-AGP acyltransferase 5|1-AGPAT 5|1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon|lysophosphatidic acid acyltransferase epsilon protein-coding 3077880 AGPAT5P1 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1 646231 AADB02027006,ABBA01069784,ABBA01069785,AC006152 pseudo 1606717 AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM] 18238778,16713569,16625827,15489334,12975309,12938015,12477932,8944226,20181984 137964 NM_178819,AC009630,CH471080,AF317516,AF406612,AL834255,AY358670,AY513610,BC051377,BC061884,BU620295,CR617473,DB470455,GM839075 NP_848934,EAW63253,EAW63254,EAW63255,AAG33063,AAP21893,CAD38930,AAQ89033,AAS82774,AAH51377,AAH61884,Q2TU73,Q86UL3,Q9HAM9,CAT16184 Hs.355753 DKFZp586M1819|LPAAT-zeta|LPAATZ|TSARG7 1-AGP acyltransferase 6|1-AGPAT 6|1-acyl-sn-glycerol-3-phosphate acyltransferase zeta|GPAT4|acyl-CoA:glycerol-3-phosphate acyltransferase 4|glycerol-3-phosphate acyltransferase 4|glycerol-3-phosphate acyltransferase 6|lysophosphatidic acid acyltransferase zeta|testis spermatogenesis apoptosis-related protein 7 protein-coding 1606210 AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 Glycerol-3-phosphate (G3P) acyltransferases (GPAT; EC 2.3.1.15), such as GPAM (MIM 602395) and GPAT3, catalyze the initial step of de novo triacylglycerol (TAG) synthesis by converting glycerol-3-phosphate (G3P) to lysophosphatidic acid (LPA) (Cao et al., 2006 [PubMed 17170135]).[supplied by OMIM] 12477932,17170135,17002884,15221005,14702039,12975309,9373149,8125298,20181984 84803 NM_032717,AC021192,AC096768,CH471057,AB075872,AK055749,AK223543,AY358100,BC006236,BC073136,BC090956,DQ324782,DQ345298,GM839137,HI574350 NP_116106,EAX05944,EAX05945,EAX05946,BAD38654,BAB71002,BAD97263,AAQ88467,AAH73136,AAH90956,ABC55674,ABC70186,Q53EU6,CAT16202,CBX47664 Hs.99196 AGPAT8|GPAT3|HMFN0839|LPAAT-theta|MAG1|MGC11324 1-AGP acyltransferase 9|1-AGPAT 9|1-acylglycerol-3-phosphate O-acyltransferase 8|GPAT-3|MAG-1|OTTHUMP00000160987|acyl-CoA:glycerol-3-phosphate acyltransferase 3|glycerol-3-phosphate acyltransferase 3|hGPAT3|lung cancer metastasis-associated protein 1|lysophosphatidic acid acyltransferase theta|lysophosphatidic acid acyltransferase, theta protein-coding 1606741 AGPHD1 aminoglycoside phosphotransferase domain containing 1 18780872,16341674,12477932,18385738,18385676,20554942,20587604,19300482,19654303,19733931,20548021,21081471 123688 NM_001083612,NM_001013619,AC027228,CH471136,AK126453,BC132753,BC144383,BM045979,BM826406,DN831396 NP_001077081,NP_001013641,EAW99167,EAW99168,BAC86556,AAI32754,AAI44384,A2RU49,ADR83508 Hs.307962 aminoglycoside phosphotransferase domain-containing protein 1 protein-coding 732011 AGPS alkylglycerone phosphate synthase This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq] 1300366,1580863,1598794 9553082,10215861,18571506,17601746,11330037,11152660,10683770,10553003,10415121,10384985,9373149,9266692,9187299,8125298,7807941,4031664,3646870,2464339,1495418,18029348,20877624,16756494,20379614,20562859 1300366,1598794 8540 NM_003659,NG_008968,AC016762,AC019080,AC073834,CH471058,AA832354,AK296239,AK309714,AK314259,AK316240,AL359559,AY544121,BC141820,BQ007087,CR591757,CR606155,CR749699,DC402978,Y09443 NP_003650,AAY24300,AAY14986,AAX93112,EAX11057,EAX11058,BAH12290,BAG36924,BAH14611,AAT11152,AAI41821,CAA70591,O00116,Q53S12,Q53SG6,Q53SN7 Hs.516543 ADAP-S|ADAS|ADHAPS|ADPS|ALDHPSY|DKFZp762O2215|FLJ99755 aging-associated gene 5 protein|aging-associated protein 5|alkyl-DHAP synthase|alkyldihydroxyacetonephosphate synthase, peroxisomal|alkylglycerone-phosphate synthase protein-coding 1312142 AGR2 anterior gradient homolog 2 (Xenopus laevis) 2325658,2325659,2325661 15340161,18973922,18829536,18801625,18029348,17694278,17457305,16713569,16551856,16222343,16189514,16169070,15935701,15834940,15489334,12975309,12853948,12690205,12592373,12477932,10965104,9790916,9373149,8125298,20877624,20888340,20550709,20525379,19359471,19609859,19834055,20048076,20403997,20525245,20299546 2325658,2325659,2325661 10551 AK296721,AC073333,CH236948,CH471073,DQ070893,AF007791,AF038451,AF038452,AF087879,AF088867,AF115926,AK223067,NM_006408,AK312942,AY359009,BC015503,BF680655,BT007048,CR610899,CS488906 NP_006399,AAP22354,EAL24283,EAW93682,EAW93683,AAY84773,AAY84774,AAY84775,AAY84776,AAC77358,AAC82614,AAP97179,AAF22484,AAL54870,BAD96787,BAG59310,BAG35784,AAQ89368,AAH15503,AAP35697,O95994,Q4JM46,Q4JM47,Q53G64,ABM81571,ABM84751,CAM55980 Hs.530009 AG2|GOB-4|HAG-2|PDIA17|XAG-2 AG-2|HPC8|OTTHUMP00000201755|OTTHUMP00000201757|anterior gradient 2 homolog|anterior gradient 2 homolog (xenopus laevis)|anterior gradient protein 2 homolog|protein disulfide isomerase family A, member 17|secreted cement gland homolog|secreted cement gland protein XAG-2 homolog protein-coding 1604981 AGR3 anterior gradient homolog 3 (Xenopus laevis) 15340161,15489334,12975309,15935701,12690205,12592373,12477932,12477722,8889548,20219921 155465 NM_176813,AC098592,CH236948,CH471073,AY069977,AY359065,BC058284,BG540617,BM984550,BU682778,CB242846 NP_789783,EAL24282,EAW93685,AAL55402,AAQ89424,AAH58284,Q8TD06 Hs.100686 AG3|BCMP11|HAG3|PDIA18|hAG-3 AG-3|OTTHUMP00000201702|anterior gradient protein 3 homolog|breast cancer membrane protein 11|protein disulfide isomerase family A, member 18 protein-coding 1606873 AGRN agrin Agrin is a neuronal aggregating factor that induces the aggregation of acetylcholine receptors and other postsynaptic proteins on muscle fibers and is crucial for the formation of the neuromuscular junction.[supplied by OMIM] 19631309,19940118,9417121,1326608,9652404,9405491,15340048,9151673,19598235,19194276,19166823,18025246,17640714,16713569,16487930,16106752,16037493,15694127,15691710,15146197,14702039,12477932,12270958,12073527,12070669,8617505,1851019,1659950,8205617,20471664 375790 NG_016346,NM_198576,AL645608,CH471183,AB191264,AF016903,AK021586,AK125197,AK128761,AW204172,BC004220,BC007649,BC034009,BC063620,BC084578,BE383214,BF569502,BF740118,BQ892267,CN314678,S44195,U84406 NP_940978,CAI15575,CAI15576,EAW56293,BAD52440,AAC39776,BAG51039,AAH04220,AAH07649,AAH34009,AAH63620,AAH84578,AAB23327,AAB52917,O00468,Q15952,Q5XG79 Hs.273330 FLJ45064 agrin|agrin proteoglycan protein-coding 736333 AGRP agouti related protein homolog (mouse) Agouti-related protein is an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation. Agouti-related protein is alternatively spliced into 2 variants which differ in 5' untranslated sequence length. [provided by RefSeq] 1580863,1357925,2314000,2311538,2314004,1625232,1331525,1300272,1625233 9311920,10318826,19285986,19077438,19058789,17197106,17180153,17041250,16904835,16820227,10366820,9893984,9892020,9751529,9724530,9354787,9119224,19770186,20164781,16568137,16320160,16314751,16280444,16130030,15978665,15597110,15546902,15489334,15121772,15054840,12815165,12477932,12213871,12153462,12056887,11747427,11602360,11554767,11487744,11344185,11326303,11196643,10371151,15927146,19602223,19942238,20404050,20468064 1357925,2314000,2311538,2314004,1625232,1331525,1300272,1625233 181 NM_001138,NG_011501,AC009061,AF281309,AF314194,CH471092,DQ374394,BC110443,U88063,U89485,BK006637 NP_001129,AAK96256,AAL09457,EAW83137,ABC88473,AAI10444,AAB52240,AAB68621,O00253,DAA06531 Hs.104633 AGRT|ART|ASIP2|MGC118963 agouti-related protein 2289478 SLEP18_H protein-coding 1348196 AGS1 Aicardi-Goutieres syndrome 1 10827106 27003 1350354 AGS2 Aicardi-Goutieres syndrome 2 497264 731070 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq] 1581742,1601130,1601134,1601135,1601136,1601138,1601139,1601140,1601143,1566452,1582435,1581938,1566491,1566492,1582118,1581847,1300394,1582152,1582124,1582105,1582434,1331525,1300393,1300273,1601142,1601141,1601132,1580863,1566511 18971559,10406457,1378723,3397061,17159080,8513325,17069818,17906677,15652490,18029348,14718574,6089875,19520069,19509012,19503013,19479237,19473121,19473084,19465003,19463113,19420105,19408837,19404196,19379721,19367093,19365726,19341158,19338750,19332265,19327134,19323983,19288324,19286758,19274077,19263529,19254215,19247266,19243623,19242491,19238444,19236533,19211927,19185300,19183129,19178574,19166692,19164480,19162259,19155782,19145770,19131662,19126660,19112833,12888892,11938025,11926202,11924723,11923700,11923478,11918988,11910301,11910300,11882570,11865575,11862023,11860821,11849656,11815627,11803527,11776100,11756575,11754397,11751698,11747312,11737220,11731937,11725160,11720807,11714857,12579398,12576245,12575194,12569265,12559679,12556231,12548125,12544508,12536339,12513040,12511525,12511523,12482638,12479284,12477932,12476891,12476421,12469628,12454231,12450315,12449516,12446468,12446192,12431442,12426159,12425365,12417054,12394950,12352892,12270765,12234952,12205735,12194787,12187393,12181364,12181363,12173461,12169209,12164881,12145290,12130713,12118911,12095411,12082592,12081721,12051013,12040348,12037699,12031704,12015946,12006677,11997278,11963567,11711524,11709400,11707686,11707217,11689223,11688760,11677365,11677359,11675943,11668351,11593098,11577832,11575217,11544438,11531970,11507973,11484170,11463770,11447495,11431175,11422818,11422735,11393670,11372768,11359462,11355019,11354780,11345362,11341749,11330874,11330506,11325075,11317203,11300226,11288810,11278902,11244011,11234373,11230286,11213892,11208365,11200871,11191642,11181802,11157174,11142763,11136175,11114694,11106322,11096141,11095476,11082147,11053482,11027844,11024214,10969042,10899625,10619573,10419812,9814470,9757569,9694881,9492317,9373149,9120024,8959747,8621667,8548433,8477848,8230088,8185599,8125298,7961807,7888785,7744780,7607642,7539791,7259779,4300938,3934016,3579322,3034901,2924688,2885106,2286380,1756856,1692023,1394429,1132082,28321,12173,16045904,16019571,16007303,16006956,15941661,15934435,15930094,15922319,15915003,15914769,15914614,15905345,15879922,15869758,15860756,15824464,15811183,15798183,15789057,15754274,15743363,15718497,15718424,15676177,15673342,15668245,15662219,15659127,15649942,15642127,15628301,15624175,15621215,15614026,15599691,15575510,15563875,15505642,15504143,15498133,15489334,15480793,15448113,15388495,15387996,15386947,15385810,15364762,15353577,15343353,15326089,15317677,15294367,15278435,15201545,15201544,15192838,15153745,15153556,15149328,15131005,15130920,15123355,15120696,19108684,19105203,19103106,19088254,19086053,19082699,19075095,19067809,19062524,19057513,19023100,19021695,19014923,18985387,18957799,18953568,18945948,18931513,18927546,18924534,19110485,18856058,18855530,18849600,18830250,18802024,18800139,18797412,18794618,18773126,18758497,18722896,18698212,15108186,15097234,15082899,15079791,15077204,15076187,15075192,15067738,15067378,15062885,15055256,15045574,15044674,15042429,15031629,15023884,15017542,15013333,15013322,15013293,14997233,14973087,14970360,14961043,14767903,14767013,14765837,14749533,14700505,14688807,14672953,14669517,14660489,14648325,14644777,14643574,14643573,14642613,14638622,14625185,14610337,14597849,14569094,14565954,14530292,14523024,14521795,14519430,14508191,15112973,15112434,14508190,14502296,14500990,12964504,12950120,12939534,12938141,12932862,12911556,12911327,12898858,12895663,18698203,18689375,18679149,18672804,18660489,18645251,18637188,18636314,18630525,18628677,18619701,18600213,18580852,18575631,18573259,18563171,18562701,18562510,18551010,18543221,18513389,18508830,18496132,18491423,18475146,18454324,18446580,18446309,18441099,18421480,18413308,18413222,18413162,18409009,18404605,18364383,18364271,18328310,18325076,18300856,18292388,18279468,18277167,18260994,18250562,18248681,18243211,18239384,18239157,18227406,18212269,18205097,18175066,18172037,18164957,18069999,18060435,18052686,17998241,17991883,17988266,17984617,17977523,17975262,17964282,17952138,17921816,17921431,17914507,17903694,17903690,17851694,17846284,17823594,17785212,17765139,17702963,17689084,17666408,17653210,17624368,17608790,17595324,17586619,17579251,17569879,17569300,17563539,17546276,17541127,17524880,17522061,17520398,17499413,17492314,17475670,17448297,17429448,17416596,17404186,17389608,17383306,17379330,17378368,17342175,17334527,17327458,17299437,17298481,17291601,17289052,17261659,17257983,17223428,17220293,17215849,17202846,17196163,17190732,17161775,17159089,17145981,17143591,17138938,17124396,17118372,17116328,17112651,17107992,17083073,17083063,17069434,17024648,17003099,16981142,16971959,16963053,16949687,16940224,16937603,16915040,16911698,16893516,16876684,16844946,16823505,16790149,16755155,16741369,16739866,16736244,16724011,16713443,16685579,16685205,16681991,16672053,16671337,16636191,16635753,16618834,16611471,16609364,16603315,16597412,16572049,16565729,16544732,16525944,16521052,16520412,16514903,16492203,16487207,16396964,16392768,16387306,16386515,16384824,16369102,16352906,16344560,16338465,16335952,16314886,16286570,16280278,16276364,16275260,16274774,16266458,16256216,16231503,16228848,16210856,16199891,16189514,16133060,16116425,16115039,16109907,16108768,16105049,16088850,16087781,16061119,16059745,16954165,16047641,12865608,12854169,12832734,12830507,12829792,12819040,12811821,12805070,12767551,12743009,12728975,12716844,12695419,12675870,12670743,12669427,12663475,12663441,12661912,12627873,12624946,12611423,12874613,12597535,12579405,20429690,20484657,20580725,16938176,18240029,19011954,19027823,19059306,19071192,19150387,19225232,19397700,19536167,19546528,19550366,19559392,19563532,19574336,19578796,19583994,19587357,19620885,19634497,19639452,19650251,19666008,19673942,19681973,19708171,19716087,19729601,19729965,19733287,19752885,19759335,19761684,19770777,19779330,19779464,19782519,19811349,19837408,19838007,19853701,19864304,19898482,19932491,19948975,19956635,20027122,20029521,20030467,20044471,20047954,20066125,20075747,20087216,20142115,20153828,20160196,20161734,20185782,20186148,20216084,20223792,20299978,20300047,20308035,20361261,20415212,20448352,20452482,20459474,20486282,20525211,20529973,20537141,20537417,20547537,20549134,20674894,20413984,20431588,20414195,20478903,20592241,2834384,19913121,20536507,20538124,20559404,20570668,20577119,20587546,20592051,20592457,20594303,20602615,20606419,20628086,20662730,20663844,20667857,20673868,20687374,20702504,20722844,20816596,16754659,20978123,20861465,20927107,20663195,20717043,20734064,20824505,20861628,20944660,20945963,20952631,20967221 1581742,1601130,1601134,1601135,1601136,1601138,1601139,1601140,1601143,1566452,1582435,1581938,1566491,1566492,1582118,1581847,1300394,1582152,1582124,1582105,1582434,1331525,1300393,1300273,1601142,1601141,1601132,1566511 183 NM_000029,NG_008836,AL158214,AL512328,AY436323,CH471098,EU326304,M24689,S78529,S78530,X15324,AB209769,AK222798,AK222815,AK293507,AK303755,AK307978,AK312291,AU128714,AW128887,BC011519,BF338744,BT006851,CR591984,CR592799,CR595628,CR601683,CR606672,CR607896,CR607898,CR615493,CR615499,CR618295,CR618811,CR618903,CR619790,CR625369,CR625415,DC412932,K02215,M69110,T97863,W01494 NP_000020,CAI15356,AAR03501,EAW69918,EAW69919,ACA05910,AAA51679,AAD14287,AAD14288,CAA33385,BAD93006,BAD96518,BAD96535,BAG56991,BAG64725,BAG35218,AAH11519,AAP35497,AAA51731,AAA52282,P01019,Q53GY3,Q53YY1,Q59EP2,Q86U78,ABM81942,ABM85122 Hs.19383 ANHU|FLJ92595|FLJ97926|SERPINA8 alpha-1 antiproteinase, antitrypsin|angiotensin I|angiotensin II|angiotensinogen|angiotensinogen (serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 8)|pre-angiotensinogen|serine (or cysteine) proteinase inhibitor|serpin A8 protein-coding 1346339 AGTBP angiotensin binding protein 184 1314853 AGTPBP1 ATP/GTP binding protein 1 NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM] 16713569,15302935,14702039,12477932,11884758,11083920,10470851 23287 NM_015239,AL157882,AL451131,CH471089,AB028958,AJ420433,AJ437018,AK001544,AK022562,AK023280,AK024698,AK295304,AK295774,AK299506,AL833359,BC060815,BX648366,CA449535,DC334722 NP_056054,CAH71212,CAH71213,CAH71214,CAH71215,CAH72317,CAH72318,EAW62694,EAW62695,EAW62696,EAW62697,EAW62698,EAW62699,BAA82987,CAD24587,BAA91749,BAB14100,BAB14505,BAG58284,BAG58598,BAG61460,CAH56222,AAH60815,CAH56158,Q8TE37,Q9UPW5 Hs.719980 DKFZp686M20191|KIAA1035|NNA1 ATP/GTP-binding protein 1|OTTHUMP00000021580|cytosolic carboxypeptidase 1|nervous system nuclear protein induced by axotomy|nervous system nuclear protein induced by axotomy protein 1 homolog protein-coding 68977 AGTR1 angiotensin II receptor, type 1 Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. At least five transcript variants have been described for this gene. Additional variants have been described but their full-length nature has not been determined. The entire coding sequence is contained in the terminal exon and is present in all transcript variants. [provided by RefSeq] 1566498,1566499,1580863,737778,629553,1598885,1582124,1331525,1581825,1598878,1581847,1582152,737777,1601149,1601146,1601148,1601150,1601152,1601151,737809,737810,2292665,1642975 20558762,20304486,20080265,18971559,10993080,1378723,8135787,1567413,16116425,17069818,17159080,15117835,19620885,19593696,19587357,19559392,19546528,19520069,19509012,19503013,19487683,19479237,19463113,19424575,19420105,19418628,19408837,19341158,19332265,19330904,19327134,19308748,19302184,19288324,19286759,19286758,19282863,19276075,19274077,19274051,19263529,19254215,19253715,19247266,19245071,19242491,19238444,19236533,19185300,19178574,19166692,19162259,19162241,19145770,19131662,19112833,19110485,19108684,19102886,19086053,19082699,19067809,19064815,19059460,19057513,19056482,19040540,19026696,19023273,19023134,19021695,19017652,19014923,18985387,18974842,18953568,18927546,18856058,18855530,18830250,18800139,18787943,18787507,18767410,18719072,18703536,18700314,18698212,18679149,18676046,18660489,18641512,18637188,18633425,18622242,18612202,18594540,18594050,18575418,18565507,18563171,18551012,18550936,18550062,18534055,18513389,18497458,18491423,18488444,18475152,18464932,18464745,18446309,18434621,18432064,18417209,18414380,18413308,18413222,18413189,18364271,18348177,18347611,18331441,18328310,18308844,18296263,18261537,18260840,18245065,18239384,18239157,18231736,18205094,18202720,18188697,18172057,18158351,18091746,18069999,15013333,15013322,15013293,14997233,14987254,14767013,14765837,14764974,14749533,14730619,14654250,14627489,14610337,14597852,14569094,14530292,14529856,14521778,14508191,14502296,12960024,12950120,12932862,12925562,12904590,12898858,12897464,12891302,12865608,12860335,12842881,12832734,15031629,15017542,12778448,12747597,12728975,12716844,12695419,12694874,12694873,12660887,12631360,12627873,12627871,12624609,12597535,12593997,12591176,12579405,12579398,12556231,12544508,12544439,12534336,12522467,12522132,12514663,12513040,12511523,12482634,12477932,12476891,12473660,12460700,12454231,12450401,12446598,12446192,17993594,17992634,17988266,17984617,17921816,17921431,17921131,17914507,17903694,17851694,17785770,17728799,17726226,17725712,17719203,17710578,17703434,17702963,17668390,17617024,17601799,17595257,17588946,17586781,17586411,17569300,17557241,17546276,17541127,17524880,17522061,17520398,17519002,17499413,17487826,17486447,17446655,17446269,17433630,17429042,17399955,17378368,17375465,17336987,17334527,17327458,17326392,17299793,17298481,17293603,17285438,17274465,17270098,17261659,17256744,17229913,17227479,17223428,17220293,17211857,17211247,17207964,17190732,17173513,17166941,17165166,17160213,17146658,17143591,17118791,17118790,17118372,17097490,17051401,17024648,17008309,16998258,16954165,16923768,16911325,16893516,16876684,16831865,16823505,16805920,16790149,16787961,16775386,16741935,16741369,16736244,16691016,16685579,16684954,16675453,16672053,16651460,16636899,16615274,16611642,16609364,16603315,16565729,16550310,16530863,16525944,16525943,16522324,16521052,16519598,16504375,16498788,16492203,16468060,16434990,16398146,16396964,16395664,16384824,16369102,16364240,16339777,16314886,16294326,16276415,16274774,16271939,16231503,16189286,16188060,16152821,16112405,12436935,12425365,12394950,12390711,12358135,12187084,12133518,12133421,12127057,12117739,12095411,12048678,12045255,12034692,12031955,12006574,11999641,11967817,11938025,11926202,11924723,11923700,11913624,11910301,11910300,11909563,11903322,11882570,11881039,11865575,11852019,11799082,11798574,11793845,11793101,11776100,11775887,11774217,11733189,11711524,11709801,11709400,11707686,11707217,11696688,11696658,11692158,11689223,11688760,11687736,11682489,11593098,11579203,11577832,11575217,11531970,11484170,11444146,11359462,11355019,11354780,11341749,11336183,11330506,11324803,11317203,11289708,11288810,11279203,11250978,11246471,11226259,11213892,11208365,11158334,11137090,11136175,11122322,11110972,11106322,11085286,11082147,11081769,11079515,10972591,10510297,9766385,9606715,9516477,9468203,9074770,8753867,8662816,8185574,8166699,8021009,7980575,7792812,7746328,7491117,1683828,1550596,1543512,1508224,9211925,14657020,16109085,16108768,16105049,16088850,16076618,16061119,16047641,16012192,16006956,15949885,15946912,15934435,15930094,15923814,15914614,15905345,15890659,15863668,15848528,15824464,15797649,15785027,15775779,15743363,15718497,15718424,15694792,15683714,15676177,15673342,15662219,15635042,15628301,15612584,15590451,15580058,15563875,15545843,15545271,15543360,15505642,15504143,15498833,15498791,15498133,15496309,15492474,15480098,15480097,15458433,15454732,15452107,15385810,15376229,15364762,15355986,15353577,15332573,15326089,15295089,15269283,15238568,15221785,15212666,15196067,15193960,16109907,16109807,15193870,15153745,15130920,15126556,15108186,15097234,15080371,15062885,15045574,15042429,18026817,18006496,20560294,20580725,19779016,15452121,15611106,17393691,18240029,19218102,19304510,19309260,19397700,19461648,19524223,19578796,19635801,19680137,19681973,19696781,19706169,19713412,19716087,19729965,19752885,19755917,19779330,19779464,19782519,19811349,19833117,19853701,19929134,19940150,19948975,19954723,19956635,19997001,20026870,20027122,20066125,20108069,20137558,20142115,20161734,20181817,20223791,20223792,20300066,20302034,20308035,20351714,20452482,20465154,20486282,20525211,20537417,20537563,20118823,20478903,19913121,20458733,20536507,20559404,20565774,20570668,20577119,20594303,20602615,20606419,20628086,20659024,20667857,20673868,20703234,20732682,20816596,16754659,20943774,18059164,18577758,20824505,20851291,20854100,20854388,20856803,20861505,20864943,20945417,20966899,20975235,21052031,21086617 1566498,1566499,737778,629553,1598885,1582124,1331525,1581825,1598878,1581847,1582152,737777,1601149,1601146,1601148,1601150,1601152,1601151,737809,737810,2292665,1642975 185 NM_031850,NM_000685,NM_004835,NM_009585,NM_032049,NG_008468,AC024897,AF245699,AY221090,AY436325,CH471052,M91464,S70433,U07144,Z11162,AI240900,AK291541,BC022447,BC068494,CR593142,CR600504,CR601313,D13814,M87290,M93394,S77410,X65699,EU332837 NP_114038,NP_000676,NP_004826,NP_033611,NP_114438,AAF70464,AAO65968,AAR03503,EAW78905,EAW78906,EAW78907,EAW78908,EAW78909,AAA35569,CAA77513,BAF84230,AAH22447,AAH68494,BAA02968,AAA35535,AAA58370,AAB34644,CAA46621,P30556,Q53YY0,Q6NUP5,Q8TBK4,ABM83314,ABM86527,Q13063,ABY87526 Hs.477887,Hs.725943 AG2S|AGTR1A|AGTR1B|AT1|AT1B|AT1R|AT2R1|AT2R1A|AT2R1B|HAT1R AT1AR|AT1BR|angiotensin II type-1 receptor|angiotensin receptor 1|angiotensin receptor 1B|type-1 angiotensin II receptor|type-1B angiotensin II receptor protein-coding 619558 AGTR2 angiotensin II receptor, type 2 Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors termed AT1 and AT2. AGTR2 belongs to a family 1 of G-protein coupled receptors. It is an intergral membrane protein. It plays a role in the central nervous system and cardiovascular functions that are mediated by the renin-angiotensin system. This receptor mediates programmed cell death (apoptosis). In adults, it is highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. It is highly expressed in fetal kidney and intestine. The human AGTR2 gene is composed of three exons and spans at least 5 kb. Exons 1 and 2 encode for 5' untranslated mRNA sequence and exon 3 harbors the entire uninterrupted open reading frame. [provided by RefSeq] 2313550,2313551,2313554,1566502,1581855,1580863,1581825,1582118,1582124,1300276,1300274,1300275,2325641 19357319,12544508,8502225,18344519,17159079,17000928,12089445,17159080,15710780,10406457,15117835,7477266,7945336,19509012,19404281,19344625,19308748,19288324,19274051,19194560,19155782,19082699,19074441,19074439,19023273,18848837,18660489,18594540,18534055,18488444,18437528,18417209,18404604,18331441,18328310,18296263,18254975,18205097,18188697,18049304,17944121,17707359,17653210,17630322,17620959,17548686,17522061,17515833,17499413,17433630,17336987,17270098,17261659,17160213,16954165,16944335,16609364,16598200,16550310,16522324,16395664,16344560,16289034,16283672,16133060,16112405,16109806,16080803,15914614,15772651,15638358,15489334,15470205,15458433,15385810,15221785,15123706,15123577,15013333,15013322,15013293,14987254,14764974,14657020,14627490,14598163,12925562,12924622,12911547,12881481,12800945,12746399,12660887,12579398,20304486,12531525,12522467,12477932,12464615,12453540,12187255,12133421,11880254,11819093,11709400,11544438,11459796,11446495,11324803,11200871,11153734,11081769,11055978,11053482,10710290,9884335,9099917,8957548,8663053,8552595,8185599,7999093,7790004,7733925,7719706,7477267,1550596,11733189,19759061,19779016,19861345,19861347,19861349,19861351,19861352,19861353,17393691,18240029,19397700,19524223,19578796,19628789,19716087,19781541,19820429,19948975,19959718,19959996,19996275,20149750,20237496,20300066,20371166,20467270,20486282,20181281,18059164,2834384,19913121,20592051,20606419,20628086,18577758,20844184 2313550,2313551,2313554,1566502,1581855,1581825,1582118,1582124,1300276,1300274,1300275,2325641 186 AAB34100 NM_000686,AL732602,AY322542,AY324607,AY359674,AY359675,AY536522,CH471234,L34579,U10273,U15592,U20860,U27478,X87722,AI911273,AK313927,BC095504,CR541969,CR738498,DA538369,U16957,X87723,NG_016326 NP_000677,CAI40984,AAP84355,AAP72969,AAQ62073,AAS45437,EAW51502,AAA98990,AAA61794,AAA50762,AAA85851,AAA84900,BAG36648,AAH95504,CAG46767,AAA67753,CAA61022,AAB34100,P50052,Q6UVH2 Hs.405348 AT2|ATGR2|MRX88 angiotensin II type-2 receptor|type-2 angiotensin II receptor protein-coding 1350151 AGTRAP angiotensin II receptor-associated protein This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq] 2314353,2314351 19913121,20628086,19060904,19430483,20018811,20541774,19805740,16710414,15757644,15668245,15489334,14985364,14559250,12960423,12477932,12107413,11733189,11162453,10358057,16189514 2314353,2314351 57085 NM_001040197,NM_001040196,NM_020350,NM_001040194,NM_001040195,AL953897,AY488088,CH471130,AF165187,AF312374,AI741916,AK290042,BC011946,BC017328,BE782705,BI117521,BQ672962,CA866314,CD674964 NP_001035287,NP_001035286,NP_065083,NP_001035284,NP_001035285,CAI15876,CAI15877,CAI15878,CAI15879,AAR25556,EAW71702,EAW71703,EAW71704,EAW71705,AAF89547,AAL26806,BAF82731,AAH17328,Q6RW13,ABM83545,ABM86785 Hs.464438 ATRAP|MGC29646 AT1 receptor-associated protein|ATI receptor-associated protein|OTTHUMP00000002272|OTTHUMP00000221111|angiotensin II, type I receptor-associated protein|type-1 angiotensin II receptor-associated protein protein-coding 736336 AGXT alanine-glyoxylate aminotransferase This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq] 1300048,1580863,1302510,1300367 2363689,15911627,12899834,15802217,3709805,1703535,7813517,19155213,18782763,18492492,18468259,18448374,18289107,17495019,17460142,17110443,16971151,16912707,15961951,15849466,15365967,15327387,15253729,12777626,12477932,12169688,11562405,11085934,10960483,10862087,10453743,10394939,9192270,8906307,8507692,8101040,8034295,2253628,2045108,2039493,1961759,1349575,1301173,16712791,15956068,16169070,19479957,19887726,20016466,20056599,20059472,20133649,20208150,20308030,20734048,20877624 1302510,1300367 189 NM_000030,NG_008005,AC104809,CH471063,M61763,X74208,X74209,AA857309,AB292648,AF191687,AF348451,AK292754,AK298400,AK298420,AK315331,AK316495,BC132819,CB156891,CR598889,CR603072,CR614071,CR620771,D13368,X53414,X56092 NP_000021,AAY24168,EAW71221,EAW71222,AAA51680,BAF46862,AAF05604,AAK30157,BAF85443,BAH12776,BAH12784,BAG37731,BAH14866,AAI32820,BAA02632,CAA37493,CAA39572,P21549,Q9BXA1,Q9UJX1 Hs.144567 AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6 L-alanine: glyoxylate aminotransferase 1|alanine--glyoxylate aminotransferase|hepatic peroxisomal alanine:glyoxylate aminotransferase|serine--pyruvate aminotransferase|serine-pyruvate aminotransferase|serine:pyruvate aminotransferase protein-coding 1352542 AGXT2 alanine-glyoxylate aminotransferase 2 The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. [provided by RefSeq] 1580863 15342556,15240345,14702039,12477932,20877624,9373149,8125298,7592550,16344560,20018850,15956068 64902 NM_031900,AC010368,CH471119,AB193309,AJ292204,AK055732,AK055757,AK223128,AK223144,AK223375,AK296109,AK314691,BC144268,BC150603,BP277413,DA633665 NP_114106,EAW55912,BAD66662,CAC24841,BAG51563,BAG51568,BAD96848,BAD97095,BAH12259,BAG37242,AAI44269,AAI50604,Q9BYV1,AAI56125,AAI56920 Hs.34494 AGT2|DAIBAT (R)-3-amino-2-methylpropionate--pyruvate transaminase|OTTHUMP00000221043|alanine--glyoxylate aminotransferase 2, mitochondrial|beta-ALAAT II|beta-alanine-pyruvate aminotransferase protein-coding 1350227 AGXT2L1 alanine-glyoxylate aminotransferase 2-like 1 632008 14702039,12477932,20332099 632008 64850 NM_031279,NM_001146590,NM_001146627,NR_027474,NR_027475,AC097473,CH471057,AJ298293,AK091888,AK294072,AK294235,BC022526,DC311077,DC327590 NP_112569,NP_001140062,NP_001140099,AAY40946,EAX06235,EAX06236,EAX06237,CAC22253,BAC03766,BAH11666,BAH11710,AAH22526,Q8TBG4 Hs.106576 OTTHUMP00000219616|OTTHUMP00000219619|alanine--glyoxylate aminotransferase 2-like 1 protein-coding 1602671 AGXT2L2 alanine-glyoxylate aminotransferase 2-like 2 20877624,16344560,16189514,14702039,12477932,17207965 85007 AC136601,AC136632,CH471165,AA862441,AF318375,AK023470,AK024076,AK093737,AK292061,BC008009,BC028002,BC037238,BC037567,BC039012,NM_153373,BC067745,BC088800,BC110335,CR611632,CR619518,DB022121 NP_699204,EAW53835,EAW53836,EAW53837,EAW53838,EAW53839,EAW53840,EAW53841,AAL55882,BAG51198,BAF84750,AAH08009,AAH37567,AAI10336,Q8IUZ5,ADQ31790 Hs.248746 MGC117348|MGC15875|MGC45484 alanine--glyoxylate aminotransferase 2-like 2 protein-coding 1603679 AHCTF1 AT hook containing transcription factor 1 18029348,17098863,17081983,16964243,16565220,15489334,14702039,12477932,11952839 25909 AK122844,AL080144,AL832213,AL833491,AY157619,BC012307,BC030564,BC047361,NM_015446,AC113174,CH471148,AB059277,AF173978,AK091364,AK091510,AK095398 BAG53044,BAG53757,CAB45737,AAN65622,AAH12307,Q8WYP5,AAI56055,NP_056261,EAW77165,EAW77166,EAW77167,EAW77168,BAB78516,AAQ13621,BAG52342 Hs.300887,Hs.470435 DKFZp434N093|ELYS|MST108|MSTP108|TMBS62 ELYS transcription factor like protein TMBS62|ELYS transcription factor-like protein TMBS62|OTTHUMP00000038418|OTTHUMP00000038419|embryonic large molecule derived from yolk sac|protein ELYS|putative AT-hook-containing transcription factor 1 protein-coding 1605826 AHCTF1P AT hook containing transcription factor 1 pseudogene 14702039 285116 NG_002622,AC009487,AK057394 BAB71468,Q96M44 Hs.470435 AHCTF1P|ELYS-like pseudo 731745 AHCY adenosylhomocysteinase S-adenosylhomocysteine hydrolase catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. [provided by RefSeq] 1601153,1580863,1300048,1598896,1598897,1300368,1598898,730275 2596825,17353931,19161160,19048631,18978678,18769049,18713839,18683034,18635682,18522500,18427977,18393535,18211827,17892301,17688412,17447732,17172447,17164794,17097637,17081065,15489334,15241484,15024124,14702039,12590576,12477932,12369977,12069606,12063172,11780052,10933798,9586999,7786017,7608178,7079734,6586634,6580258,2574561,715439,309884,16344560,19619139,19683694,20392501,20458436,20308539,19913121,20615890,20628086,20634891 1601153,1598896,1598897,1300368,1598898,730275 191 NM_000687,AL356299,CH471077,AK097610,AK290422,AK300014,AK309204,AK316180,BC010018,BC011606,BC114924,BT006697,CR594678,CR603449,CR603916,CR609798,CR610700,CR613383,CR614546,CR616968,CR619776,M61831,M61832,BE785593,DB043400,DC301059,DC413105,NG_012630,NM_001161766 NP_000678,CAC09528,EAW76279,EAW76280,EAW76281,BAG53495,BAF83111,BAG61829,BAH14551,AAH10018,AAH11606,AAI14925,AAP35343,AAA51681,AAA51682,P23526,Q1RMG2,ABM92186,ABM82627,ABM84656,ABM86323,NP_001155238 Hs.388004 SAHH S-adenosyl-L-homocysteine hydrolase|S-adenosylhomocysteine hydrolase|adenosylhomocysteinase|adoHcyase protein-coding 1320280 AHCYL1 adenosylhomocysteinase-like 1 1580863 19220705,16769890,16754674,16710414,15951569,15489334,12878157,12525476,12477932,11904675,10070969,9110174,8619474,7782076,19019082,20584908,19615732 10768 AL772411,CH471122,AA865152,AF035319,AF090905,AF315687,AK131563,AK303690,AK308080,AK313392,AK316110,AL049954,BC003631,BC007576,BC010681,BC016942,BC065254,BC095476,BC110896,BC111563,NM_006621,BK005417,BK005418,BQ774807,CF456195,CR591659,CR592324,CR596695,CR606586,U82761,FB775494 NP_006612,CAH70965,CAH70966,EAW56422,EAW56423,EAW56424,EAW56425,EAW56426,EAW56427,AAB88189,AAF24028,AAL26869,BAD18696,BAG64680,BAG36190,BAH14481,CAB43223,AAH03631,AAH07576,AAH10681,AAH16942,AAH65254,AAH95476,AAI10897,AAI11564,DAA05762,DAA05763,AAC01960,O43210,O43865,Q2NKW8,Q6ZMM9,Q9BTL0,Q9UI76,AAI40415,AAI46493,ABM81947,ABM85127,ACE87278,ACE86597,CAV30704 Hs.725986 DCAL|IRBIT|PRO0233|XPVKONA DC-expressed AHCY-like molecule|OTTHUMP00000013377|S-adenosyl homocysteine hydrolase homolog|S-adenosyl-L-homocysteine hydrolase 2|S-adenosylhomocysteine hydrolase-like 1|S-adenosylhomocysteine hydrolase-like protein 1|adoHcyase 2|dendritic cell expressed AHCY-like protein|inositol 1,4,5-trisphosphate receptor-binding protein|putative adenosylhomocysteinase 2 protein-coding 1601771 AHCYL2 adenosylhomocysteinase-like 2 16865262,16344560,15489334,12477932,10048485,20694014,19615732 23382 AK316073,BC008349,BC024325,CR595025,DA429263,NM_001130720,NM_001130722,NM_001130723,AC009244,AC011005,AC083866,AC093149,CH236950,CH471070,AB020635,AK025372,AK295851,NM_015328,BG700017,DA890615 BAG58657,BAH14444,AAH08349,AAH24325,Q6ZNS6,Q96HN2,NP_056143,NP_001124192,NP_001124194,NP_001124195,EAW83716,EAW83717,BAA74851 Hs.600789 ADOHCYASE3|FLJ21719|KIAA0828 OTTHUMP00000212357|OTTHUMP00000212358|S-adenosyl-L-homocysteine hydrolase 3|S-adenosylhomocysteine hydrolase-like 2|putative adenosylhomocysteinase 3 protein-coding 1603658 AHDC1 AT hook, DNA binding motif, containing 1 16713569,15146197,12477932,9110174,8619474 27245 NM_001029882,AL031729,CH471059,AK125431,BC002677,BC014394,BC064935,BM989685,CN371147,U79259 NP_001025053,CAI19618,CAI19619,EAX07751,EAX07752,BAC86163,AAH02677,AAH14394,AAB50205,Q5TGY3,AAI52908 Hs.469280 CL23945|DJ159A19.3|RP1-159A19.1 AT-hook DNA-binding motif-containing protein 1|OTTHUMP00000003476|OTTHUMP00000003600|a.T hook DNA-binding motif-containing protein 1 protein-coding 1349401 AHDS Allan-Herndon-Dudley syndrome 193 1348620 AHI1 Abelson helper integration site 1 This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1598905 19342780,18936234,18785627,18782849,18633336,18227995,18054307,17668382,17473831,17409309,16773125,16453322,16381901,16240161,16155189,15489336,15489334,15467982,15322546,15169551,15060101,14751929,20683928,14574404,12477932,12186888,11230166,11076863,9373149,8125298,20452750,14702039,20580033,20805890,19191019,20045148,20071346,20371615,20379614,21068128 1598905 54806 NM_001134830,NM_017651,NM_001134831,NM_001134832,NG_008643,AL023693,AL049552,AL133544,CH471051,AI300295,AJ459824,AJ459825,AJ606362,AK000076,AK024085,AK092262,AK225210,AL136797,AY133243,BC015019,BC029417,BC039559,BC050607,BC065712,BC094800,BX643029,DQ090887 NP_001128302,NP_060121,NP_001128303,NP_001128304,CAI20201,CAI20385,CAI20387,CAB96731,CAI22521,CAI22523,EAW47962,EAW47963,EAW47964,EAW47965,EAW47966,CAD30871,CAD30872,CAE54481,BAA90929,BAB14820,BAC03840,AAM94177,AAH29417,AAH65712,AAH94800,AAY99645,Q4FD35,Q5TFT1,Q8N157,Q8NER0,Q9H803,Q9NQN3,Q9NXT1,CAL38370,CAB66731 Hs.386684 AHI-1|DKFZp686J1653|FLJ14023|FLJ20069|JBTS3|ORF1|dJ71N10.1 OTTHUMP00000017263|abelson helper integration site|abelson helper integration site 1 protein homolog|contatins SH3 and WD40 domains|jouberin protein-coding 1345625 AHNAK AHNAK nucleoprotein 1580863 16712791,1608957,18334579,16984913,16582619,16319140,15177040,15033986,15001564,14702039,12477932,12153988,11746675,11535620,11312263,10737800,7987395,7789175,14625392,15607035,17207965,16417406,20029029 79026 M80902,X74818,M80899,NM_001620,AP001363,AP003064,CH471076,AK091153,AK095346,AK128868,AK300376,BC000926,BC012477,BC017483,BC128460,BF094607,BF761997,BQ448690,CB129722,NM_024060 AAA69898,AAA69899,CAA52817,Q09666,Q13727,Q6ZQN2,Q8N274,Q96EC4,Q9BVU3,ADQ32850,NP_076965,NP_001611,EAW74019,BAC03596,BAC87652,BAG62112,AAH00926,AAH12477,AAI28461 Hs.502756 AHNAKRS|MGC5395 AHNAK-related|ahnak nucleoprotein (desmoyokin)|desmoyokin|neuroblast differentiation-associated protein AHNAK protein-coding 1320178 AHNAK2 AHNAK nucleoprotein 2 15007166,14702039,12477932 113146 NM_138420,AL512802,AB095939,AK094143,AK095704,AK126472,AL834367,BC004283,BC011859,BC033372,BC049216,BC090889,BC144467,BX537923,BX538040,BX538106,BX538133 NP_612429,BAC23115,CAD39030,AAH11859,AAH33372,AAH49216,AAH90889,CAD97904,CAD97981,CAD98019,CAD98034,Q8IVF2 Hs.441783 C14orf78|KIAA2019 chromosome 14 open reading frame 78|protein AHNAK2 protein-coding 731071 AHR aryl hydrocarbon receptor This gene encodes a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Its ligands included a variety of aromatic hydrocarbons. [provided by RefSeq] 634668,1580863,1300278,1300277,2325664 20140206,20511231,8794892,19340314,19333233,19255421,19158084,19138996,19114668,19034627,19027718,19018768,19013013,18990750,18923163,18818557,18708364,18708059,18677463,18676680,18636124,18632753,18628420,18524851,18515748,18510611,18483242,18433817,18359762,18358233,18303622,18302886,18259752,18065768,18059014,18037991,17963696,17900530,17823304,17823287,17642299,17596880,17559847,17552871,17511620,17502624,17498780,17490615,17429315,17392787,17311112,17244640,17223712,17200336,17174437,17140257,17053541,16985033,16985026,16952353,16922649,16891617,16762319,16675542,16619036,16538170,16481407,16480812,16403814,16337337,16257957,16153594,16109480,16103451,16091746,16084889,15964790,15917307,15897893,15863442,15837795,15774926,15758562,15728486,15641800,15572374,15499202,15489334,15474075,15342792,15190133,15123621,15069065,15026081,14985336,14978034,14973392,14634838,14560034,14550747,12917420,12853948,12852830,12837759,12774124,12730383,12690205,12637498,12612060,12597446,12592376,12586752,12566446,12520072,12480531,12477932,12237327,12215427,12213390,12203118,12200463,12181450,12139968,12065584,12024042,11866883,11835227,11805098,11768231,11756572,11742002,11698344,11689007,11505220,11425848,11408954,11393538,11259615,11259606,11207035,11114727,11032419,11013261,10999956,10986286,10903152,10739168,10620335,10497241,10471301,10428779,10048154,9972449,9837941,9787404,9759704,9712901,9446600,9170146,9111057,9083006,15681594,20395535,20130088,20460431,18029348,21081473,20354149,20804740,20171126,20401977,9079689,10395741,11782478,12213388,7961644,19535631,19465936,19463884,19460354,19415745,19380484,19360915,19358281,19356098,19356061,8393992,8384309,8246913,8125016,8074712,7961671,7883760,7716743,7628454,7566098,7550366,7515333,7488247,9887096,9704006,11259609,17209571,19170196,19371443,19447902,19536146,19556287,19574409,19592671,19625176,19690180,19692168,19726680,19736056,19755661,19789301,19815066,19821039,19917880,19941898,20000589,20032195,20044593,20053997,20064835,20146706,20237496,20301892,20453000,20634891,20676092,20619336 634668,1300278,1300277,2325664 196 NM_001621,AC003075,CH236948,CH471073,D31708,D38044,U28063,U28064,U28066,AA329775,AK307495,BC021696,BC069390,BC070080,BQ020427,BQ024331,BX505160,D16354,L19872 NP_001612,EAL24281,EAW93686,EAW93687,BAA07235,AAA92082,AAA92083,AAA92084,AAH69390,AAH70080,BAA03857,AAA16210,P35869 Hs.171189 bHLHe76 AH-receptor|ah receptor|aromatic hydrocarbon receptor|aryl hydrocarbon receptor|class E basic helix-loop-helix protein 76 protein-coding 1348641 AHRR aryl-hydrocarbon receptor repressor Dioxin is a teratogen that exerts its effects through the arylhydrocarbon receptor in conjunction with the receptor's binding partner, arylhydrocarbon receptor nuclear translocator. The protein encoded by this gene represses signal transduction by the arylhydrocarbon receptor by competing with the arylhydrocarbon receptor nuclear translocator for binding to the arylhydrocarbon receptor. Expression of the repressor is stimulated by the receptor/translocator heterodimer, thereby regulating receptor function through a negative feedback mechanism. In addition, the encoded protein can bind to nuclear factor kappa-B. [provided by RefSeq] 19501819,19380484,19251700,19137073,18676680,18632753,18565642,18172554,17980155,17890447,17559847,17513317,17244640,16344560,16084889,15758562,15474075,14702039,14672759,12777964,12477932,11835227,11423533,11393538,11181995,10574462,9887096,8889548,1070014,18029348,19170196,19625176,20237496,20378615,20453000 57491 DA863025,EU293605,NM_020731,AC010442,AC118458,AF293629,AF293639,CH471235,AB033060,AK090508,AK127977,AK314472,BC035358,BC121047,BC121048,BC151852,BC152406,BM682431,BX400426,DA051156 ABX89616,A9YTQ3,AAI60162,NP_065782,AAG33381,EAW50992,BAA86548,AAI51853,AAI52407 Hs.50823 AHH|AHHR|KIAA1234|MGC167813|MGC176630|bHLHe77 OTTHUMP00000221489|ahR repressor|aryl hydrocarbon hydroxylase regulator|aryl hydrocarbon receptor regulator|aryl hydrocarbon receptor repressor|arylhydrocarbon receptor repressor|class E basic helix-loop-helix protein 77|dioxin receptor repressor protein-coding 1346562 AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 1580863 20089831,20029029,12504007,17110338,16696853,15489334,12604615,12508121,12477932,11554768,11042152,10931946,17353931,18029348,20159553 10598 NM_012111,AF111168,CH471061,AF161440,AF164791,AJ243310,AK300766,AK313824,BC000321,BC007398,BG432594,CR594235,CR606034,CR608181,CR612927,CR616582,CR617792,CR618207,CR620829,CR623881 NP_036243,AAD09623,EAW81291,EAW81292,AAF29000,AAF80755,CAB45684,BAG62431,BAG36559,AAH00321,AAH07398,O95433 Hs.204041 AHA1|C14orf3|p38 activator of 90 kDa heat shock protein ATPase homolog 1 protein-coding 1316203 AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) 15570572,14739935,14702039,12604615,12504007,12477932,20190752 130872 NM_152392,AC016747,CH471053,AF542548,AK091998,AK092505,AK092817,AK123709,AL833813,BC030998,BC050395,BC063789,BC113671,BC117278,AA856729,AI636364,CR609529 NP_689605,AAY14686,EAX00002,EAX00003,EAX00004,EAX00005,EAX00006,EAX00007,EAX00008,EAX00009,AAQ09531,BAG52613,CAD38676,AAI13672,AAI17279,Q719I0,ADR82832 Hs.655602,Hs.644708 DKFZp564C236|FLJ34679|FLJ41715|Hch1 OTTHUMP00000159809|OTTHUMP00000202097|OTTHUMP00000202098|activator of 90 kDa heat shock protein ATPase homolog 2 protein-coding 736027 AHSG alpha-2-HS-glycoprotein Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq] 1580863,2313813,2313810,2313812,2313814,2313809,2313811,1625792,1625793,1625794 20575466,12203945,17474147,12153747,12773197,12725640,12642050,14718574,11922920,19453261,19358088,19194829,19151998,19110009,19031279,19029462,19016589,18728159,18633113,18612115,18364352,18337634,18335040,18334823,18316360,18286307,18281421,18089450,18085392,18065755,17960182,17889958,17882149,17851232,17702860,17611637,17557141,17318070,17303000,17062776,17010978,16968979,16898488,16740002,16567568,16335952,16318278,16117875,16113307,16046317,16024912,16002217,15931001,15917161,15882283,15806395,15599699,15592877,15589849,15489334,14760718,14667137,12914574,12754519,12665801,12556469,12477932,12207096,12071714,11788587,11439093,11415520,10947975,10550518,9322749,9003486,8940198,7906861,7736783,6833285,6803836,3944104,3924066,3474608,3356172,2760061,2645941,2054237,12140560,20436350,20374388,19478814,19602903,19615685,19672022,19681840,19857655,19857676,19896717,19910501,19931899,20015522,20019453,20031641,20091488,20150538,20299368,20379614,20453496,20533272,20576822,19913121,20605840,20628086,20806899,20546343,17207965,20660040 2313813,2313810,2313812,2313814,2313809,2313811,1625792,1625793,1625794 197 AAB29984 NG_011436,AB038689,AC068631,CH471052,D67013,AK292751,AK298447,AK303754,AK312969,BC048198,BC052590,CR590483,CR590880,CR590983,CR591986,CR592598,CR592800,CR593230,NM_001622,CR594465,CR595632,CR596937,CR597357,CR597818,CR597877,CR598024,CR598201,CR599688,CR599704,CR599822,CR600033,CR600361,CR600789,CR601258,CR601261,CR601414,CR601433,CR601952,CR602438,CR603843,CR603950,CR605962,CR605966,CR606330,CR606631,CR607355,CR607382,CR607622,CR608868,CR609106,CR609433,CR609460,CR611718,CR612049,CR612128,CR613180,CR613958,CR614059,CR614997,CR615277,CR615840,CR616075,CR616438,CR616558,CR616627,CR616960,CR619431,CR619823,CR622619,CR622687,CR622904,CR623461,CR626686,CR626745,D67012,DC362553,M16961 NP_001613,BAA92189,EAW78187,EAW78188,EAW78189,BAA22652,BAF85440,BAH12792,BAH14038,BAG35808,AAH48198,AAH52590,BAA22651,AAA51683,AAB29984,P02765,ADQ32184 Hs.324746 A2HS|AHS|FETUA|HSGA OTTHUMP00000210159|alpha-2-HS-glycoprotein|alpha-2-Z-globulin|ba-alpha-2-glycoprotein|fetuin-A protein-coding 1354128 AIC Aicardi syndrome 192 1347771 AICDA activation-induced cytidine deaminase This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq] 1580863,1598906 17066440,17060445,16999936,16785531,16705187,16624806,16541139,16439679,16387847,16381901,16314506,16269615,16122802,15949042,15944282,15814733,15613101,15593119,15489336,15489334,15448152,15372234,15371439,15304391,15252444,15195091,15182647,15148397,15087440,15061213,20117026,20338830,20855884,20864035,18722174,10950930,11007475,19443686,19412186,19380635,19363484,19336552,19309412,19266080,19247692,19196959,19139166,19023113,19017972,18940926,18776814,18772346,18760480,18757891,18417471,18391550,18390709,18329947,18306229,18213388,17878393,17638864,17485517,17161027,17132718,14990977,14536088,12973929,12928399,12873980,12855567,12799424,12715918,12683974,12651944,12521993,12511417,12477932,12202747,12114543,12097915,12011459,11823785,11544457,11256614,11112359,11076863,16580072,14769937,14551145,20491788,16251902,19057669,19561087,19573080,19575287,19578742,19667096,19703021,19732723,19734146,19741596,19773279,19859091,19898425,19911124,19966806,20027182,20048284,20118283,20233972,20237496,20237507,20373075,20379614,20729863,20637757,20974684,21041454,21048031,20507984 1598906 57379 NM_020661,NG_011588,AB040430,AB092577,AC092184,CH471116,CS056120,AB040431,AF529815,AF529816,AF529817,AF529818,AF529819,AF529820,AF529821,AF529822,AF529823,AF529824,AF529825,AF529826,AF529827,AJ577811,AY534975,AY536516,AY536517,AY541058,AY748364,BC006296,BT007402,BX402063,CR615215,DQ431660,HH794616 NP_065712,BAB12720,BAC66114,EAW88615,CAI75242,BAB12721,AAM95402,AAM95403,AAM95404,AAM95405,AAM95406,AAM95407,AAM95408,AAM95409,AAM95410,AAM95411,AAM95412,AAM95413,AAM95414,CAE12261,AAS90604,AAS92920,AAS92921,AAS98257,AAU95780,AAH06296,AAP36066,ABD92700,Q546Y9,Q5XM85,Q6QHI9,Q6QJ80,Q6QJ81,Q6QLN7,Q7Z599,Q86WB9,Q8NFB5,Q8NFB6,Q8NFB7,Q8NFB8,Q8NFB9,Q8NFC0,Q8NFC1,Q8NFC2,Q8NFC3,Q8NFC4,Q8NFC5,Q9GZX7,CAL38484,ABM83915,ABM87236,CBX87165 Hs.149342 AID|ARP2|CDA2|HIGM2 activation-induced cytidine deaminase|cytidine aminohydrolase|integrated into Burkitt's lymphoma cell line Ramos protein-coding 1603969 AIDA axin interactor, dorsalization associated 17681137,16344560,14702039,12477932,9110174,8619474 64853 NM_022831,AL392172,AL592148,CH471059,AF131838,AK022868,AK289865,AL833718,BC015535,BC043142,BC067805,BC171848,BG705886,DA483113,AK301870 NP_073742,CAH73929,CAH73930,CAI40463,CAI40464,EAX06366,BAB14281,BAF82554,CAH56257,AAH15535,AAH43142,AAH67805,AAI71848,Q96BJ3,BAH13571 Hs.156625,Hs.534965 C1orf80|FLJ12806|FLJ32421|RP11-378J18.7 OTTHUMP00000035774|axin interaction partner and dorsalization antagonist|axin interactor, dorsalization-associated protein protein-coding 1345176 AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) 198 735562 AIF1 allograft inflammatory factor 1 This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of growth of vascular smooth muscle cells, which contributes to the anti-inflammatory response to vessel wall trauma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2313020,2313027,2313032,2313037,2313043,2313025,2313026,2313038,2313039,2313199,2313033,2313024,2313029,2313041,1580863,2313021,2313022,2313023,2313028,2313030,2313034,2313035,2313036,2313040,2313042,2313045 9614071,8912632,19204726,19079260,18987644,18835879,18816612,18787073,18721278,18341653,17907195,17533487,17522098,17498268,17073733,17035944,17011575,17010532,16868985,16291819,16049345,15922740,15784173,15489334,15117732,14756805,14656967,14574404,12887599,12714565,12559634,12477932,11943136,11500035,20662065,10202016,8629302,8499947,7769138,18699778,19745784,19851445,20237496,20587610,20855536 2313020,2313027,2313032,2313037,2313043,2313025,2313026,2313038,2313039,2313199,2313033,2313024,2313029,2313041,2313021,2313022,2313023,2313028,2313030,2313034,2313036,2313040,2313042,2313045 199 NM_001623,NM_032955,AF129756,AL662801,AL662847,AL805934,BA000025,BX248305,CH471081,NM_004847,CR753892,CR759761,Y14768,AF088038,AF299327,AK290771,BC009474,CB215777,CD521003,CR542153,D86438,DB502939,EF070982,EF070983,U19713,U49392,U95213 NP_004838,NP_001614,NP_116573,AAD18087,CAI18308,CAI18311,CAM25588,CAI17694,CAI17697,CAO72101,CAI18495,CAI18497,CAO03652,BAB63392,CAI95573,CAI95575,CAM26281,EAX03442,EAX03443,EAX03444,EAX03445,EAX03446,EAX03447,CAQ06957,CAQ06958,CAQ10843,CAQ10844,CAA75060,CAA75061,CAA75062,AAG39110,BAF83460,AAH09474,CAG46950,BAA13088,ABK35646,ABK35647,AAB05003,AAA92457,AAC24422,O43904,P55008,Q4V347,Q9UIV4,ACE87756,ACE87076 Hs.76364 AIF-1|IBA1|IRT-1|IRT1 allograft inflammatory factor 1|interferon gamma responsive transcript|ionized calcium-binding adapter molecule 1|protein G1 protein-coding 1312901 AIF1L allograft inflammatory factor 1-like 737633 11256614,18699778,16381901,15489336,15489334,15164053,14702039,12975309,12477932,11230166,11076863,8889548,16344560,20237496 737633 83543 AL157938,CH471090,AK022845,AK027181,AK057789,AK091912,AK128526,AK300473,AK314600,AL136566,AL833896,NM_031426,BC009826,BC021253,BM975905,CR601218,AY359067,BI766795,DA285481,NM_001185095,NM_001185096,NR_033701 NP_113614,CAI41102,CAI41103,CAI41104,CAI41105,CAI41107,CAO72071,EAW87958,EAW87959,BAB14269,BAC03770,BAC87480,BAH13291,BAG37171,CAB66501,CAD38752,AAQ89426,AAH21253,Q5JUP1,Q5JUP3,Q9BQI0,CAL37731,CAL38179,CAL38735,NP_001172024,NP_001172025 Hs.4944 C9orf58|FLJ12783|IBA2|MGC29466 OTTHUMP00000022387|OTTHUMP00000022388|OTTHUMP00000022390|allograft inflammatory factor 1-like|ionized calcium binding adapter molecule 2|ionized calcium-binding adapter molecule 2 protein-coding 731380 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells that is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it effects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Several alternative transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 9989411,16713569,17353931,19418225,19197367,18821579,18806756,18593521,18306460,18056262,17709377,17603079,17560018,17492772,17471535,17352692,17347867,17107772,17094969,16729031,16644725,16628003,16365034,16344560,16049016,15772651,15729291,15703386,15526035,15489334,15316071,15286713,15182854,14716299,14585540,12930708,12668724,12629154,12535654,12477932,12198487,12022952,11533664,11279485,10913597,10744629,9892620,9206994,9110174,8619474,1202295,16511342,12404120,15033690,11193032,17967870,16169070,20228227,15775970,17148452,19064571,19578750,19598027,19723031,19723032,19781850,20177052,20362274,17822623,19913121,20628086 9131 NM_145812,NM_145813,NM_004208,NM_001130847,NM_001130846,AL139234,CH471107,AF100928,AF131759,AK000775,AK314446,AL049703,AL049704,AY795556,AY795557,BC111065,BC139738,BM807180,CR457379,CR606178,CR607158,DB119488,DQ016496,DQ016498,DQ016500,DA624842,NG_013217 NP_665812,NP_665811,NP_004199,NP_001124319,NP_001124318,CAI42778,CAI42779,CAI42780,EAX11810,EAX11811,EAX11812,AAD16436,AAD20036,BAG37055,CAB41267,CAB41268,AAV54053,AAV54054,AAI11066,AAI39739,CAG33660,AAY84737,AAY84739,AAY84741,O95831,Q1L6K4,Q1L6K6,Q2QKE4,Q5RZ99,Q5RZA0 Hs.424932 AIF|COXPD6|MGC111425|PDCD8 apoptosis-inducing factor 1, mitochondrial|programmed cell death 8 (apoptosis-inducing factor)|striatal apoptosis-inducing factor protein-coding 1312709 AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 The protein encoded by this gene has significant homology to NADH oxidoreductases and the apoptosis-inducing factor PDCD8/AIF. Overexpression of this gene has been shown to induce apoptosis. The expression of this gene is found to be induced by tumor suppressor protein p53 in colon caner cells. 1580863 20877624,20635389,15958387,11980907,12135761,17711848,17347867,15489334,15273740,15164054,14702039,12477932,10441517,15342556,19270026 84883 NM_032797,AL731540,CH471083,AF337957,AF506757,AK027403,AK127353,BC006121,BC023601,BX537621,CR622972,AI922797,BG332787,BP331371,NM_001198696 NP_116186,CAI13684,EAW54376,AAL73229,AAM77596,BAB55089,BAG54492,AAH06121,AAH23601,CAH56481,Q9BRQ8,ABM84018,ABM87363,NP_001185625 Hs.655377 AMID|DKFZp686L1298|PRG3|RP11-367H5.2 5430437E11Rik|apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death|apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death|apoptosis-inducing factor (aif)-like mitochondrion-associated inducer of death|apoptosis-inducing factor 2|apoptosis-inducing factor homologous mitochondrion-associated inducer of death|p53-responsive gene 3 protein protein-coding 1604991 AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 15764604,19166416,16344560,16001080,15790807,15489334,15461802,14702039,12477932,20877624,18029348,18482256 150209 NM_001018060,NM_001146288,NR_027464,AC002470,CH471176,AK055035,AK094844,AK126917,AK295581,AK316042,AY927574,AY927594,BC032485,BQ028401,NM_144704,CR456342,CR617219,CR626811,DA396585,DB172173 CAK54484,CAK54783,NP_653305,NP_001018070,NP_001139760,EAX02924,EAX02925,EAX02926,EAX02927,EAX02928,EAX02929,EAX02930,EAX02931,BAB70841,BAC04434,BAH12112,BAH14413,AAH32485,CAG30228,Q96NN9 Hs.723246 AIFL|FLJ30473|FLJ45137 OTTHUMP00000198534|OTTHUMP00000198535|OTTHUMP00000198536|apoptosis-inducing factor 3|apoptosis-inducing factor like|apoptosis-inducing factor-like protein protein-coding 1346084 AIG1 androgen-induced 1 1580863 15489334,14702039,14574404,12477932,11266118,10810093,9373149,8125298,20379614 51390 NM_016108,AL023581,AL136116,AL391726,AL450335,CH471051,AF151861,AF153605,AJ420480,AK001347,AK222475,AK298533,BC009559,BC025278,BF725860,BX538067,BX640703,CR594659,CR604536 NP_057192,CAI21389,CAI21390,CAI21391,CAI21392,CAI21393,CAI21394,CAI23449,CAI23450,CAI23451,CAI23452,CAI23455,CAI16928,CAI16929,CAI16930,CAI16931,CAI16932,EAW47869,EAW47870,AAD34098,AAD41087,BAA91640,BAD96195,BAG60734,AAH25278,CAD97997,CAE45823,Q53HV5,Q5T2H0,Q5T2H3,Q5T2H4,Q5THU2,Q9NVV5,ABM84217,ABM87621 Hs.567501 AIG-1|DKFZp686F03136|FLJ10485|RP1-95L4.1|dJ95L4.1 OTTHUMP00000017324|OTTHUMP00000017325|OTTHUMP00000017327|OTTHUMP00000017328|androgen induced protein (AIG-1), C-terminus truncated|androgen-induced gene 1 protein protein-coding 1348070 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 200 1346253 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type 1358807 201 1318513 AIM1 absent in melanoma 1 1580863 19194464,18582473,17434096,16511323,14702039,14574404,12693952,12477932,10737800,9096375,8700511,1680551,19910543,20379614 202 NM_001624,AL359292,AL390074,CH471051,U83116,AA574200,AI765826,AK025693,AK056705,AK125137,AK297008,AK300443,AK316287,BC062788,BF743639,CR600498,CR601872,CV573838,U83115,HA637632 NP_001615,CAC44021,CAI21046,CAH72091,EAW48412,EAW48413,AAB53792,BAG51792,BAG54152,BAG59543,BAG62166,BAH14658,AAH62788,AAB53791,Q6P5P8,Q96QW7,Q9Y4K1,AAI56647,CAZ39538 Hs.724262,Hs.643590 CRYBG1|ST4 absent in melanoma 1 protein|beta-gamma crystallin domain containing 1|beta/gamma crystallin domain-containing protein 1|suppression of tumorigenicity 4 (malignant melanoma) protein-coding 1318501 AIM1L absent in melanoma 1-like 17672918,16710414,16344560,15203218,14702039,12477932,9716656,8401585 55057 NM_001039775,AL451139,CH471059,AK000902,AK095339,AL137264,BC136870,CD628848,DA439029,DR004727,CD628851,DA456217 NP_001034864,CAI15847,CAI15850,CAI15852,EAX07819,BAA91416,BAC04533,CAB70663,AAI36871,Q8N1P7,Q9NTH7,Q9NWG5 Hs.128738 CRYBG2|DKFZp434L1713|FLJ10040|FLJ38020 OTTHUMP00000003569|absent in melanoma 1-like protein|beta-gamma crystallin domain containing 2|beta/gamma crystallin domain-containing protein 2 protein-coding 1316387 AIM2 absent in melanoma 2 AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq] 1580863 18029348,9242382,19158676,19158675,17726700,16710414,16432157,15582594,15076139,12477932,10828447,9865494,20595294,19293232,19795419,20401524 9447 NM_004833,AL359753,CH471121,AF024714,AK292042,BC010940 NP_004824,CAI15087,CAI15089,EAW52795,AAB81613,BAF84731,AAH10940,O14862,Q5T3V8,Q5T3W0,CAI15088 Hs.281898 PYHIN4 interferon-inducible protein AIM2 protein-coding 1344147 AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq] 724676,1580021,1580863 11741979,11306575,7545917,9405472,14500886,21092922,11714285,12819782,16055448,19565673,19573982,19917687,20332099,8052601,8078941,8188258,8449960,9278442,9368021,20510162,20413730,20429837,19002109,18951814,18621627,17443684,17303557,17051333,17018011,16674941,16615114,16344560,15935955,15489334,14982944,14702039,14688335,14588117,12729910,12543078,12477932,12161535,11157763,10852899,10409428,10358004,9878398,7929199,1400342,15857508,18448069,19362550 724676,1580021 9255 NM_001142415,NM_004757,NM_001142416,AC093680,CH471057,AK095951,AK297950,AK303965,BC014051,BG941396,BI258927,BM314663,BQ447202,CR542281,CR602436,CR604744,CR624995,DA211424,DC358150,U10117 NP_001135887,NP_004748,NP_001135888,EAX06203,EAX06204,BAG53174,BAG60265,BAG64889,AAH14051,CAG47076,AAA62202,Q12904,ABM84225,ABM87736 Hs.591680 EMAP2|EMAPII|SCYE1|p43 ARS-interacting multifunctional protein 1|OTTHUMP00000219673|aminoacyl tRNA synthase complex-interacting multifunctional protein 1|endothelial monocyte-activating polypeptide 2|endothelial-monocyte activating polypeptide II|multisynthase complex auxiliary component p43|multisynthetase complex auxiliary component p43|small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) protein-coding 1603320 AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq] 16049031,16135753,16714300,16189514,18695251,18676680,16125937,15489334,12853948,12819782,12783850,12729910,12690205,12477932,10913161,9878398,8666379,1651330,600859,15479637,11714285,16055448,17512523,19060904,19170196,19625176,19692168,8052601,8078941,8188258,8449960,9278442 7965 NM_006303,AC005995,CH236963,CH878731,AF116615,AK313037,BC002853,BC010156,BC013630,CR590372,CR592412,CR596215,CR600328,CR609344,CR623969,U24169 NP_006294,AAS00389,EAL23713,EAW55053,EAW55054,AAF71039,BAG35870,AAH02853,AAH10156,AAH13630,AAC50391,Q13155 Hs.520205,Hs.301613 JTV-1|JTV1|P38|PRO0992 ARS-interacting multi-functional protein 2|JTV1|OTTHUMP00000201310|OTTHUMP00000201311|aminoacyl tRNA synthase complex-interacting multifunctional protein 2|multisynthase complex auxiliary component p38|multisynthetase complex auxiliary component p38|protein JTV-1 protein-coding 1354071 AIP aryl hydrocarbon receptor interacting protein The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. [provided by RefSeq] 1580863 9447995,14557246,8972861,18029348,19474519,19375531,19188737,18710468,18628514,18484068,18381572,17916996,17914118,20029029,20506337,17893251,17613551,17609395,17360484,17341560,17299063,17244780,17242703,17018653,16936638,16807248,16728643,15592455,15489334,14730974,12837759,12721663,12482853,12477932,12361709,12065584,12036304,11805120,11259606,11013261,10986286,10690880,9837941,9111057,9083006,8889548,7961671,20211142,21208107,20530095,20634891,20685857,12810716,16257957,17329248,18410548,19366855,19556287,19684062,19794292,19883897,19910549,20507346 9049 NM_003977,NG_008969,AM236341,AP001184,AP003419,CH471076,BC104797,BC104827,BG821308,BU689235,CN480874,CR591514,CR593870,CR594744,CR600563,CR600666,CR601003,CR601190,CR601849,CR604495,CR604647,CR607044,CR618527,CR620315,CR621665,CR623440,U31913,U78521,EF203238,GQ847771 NP_003968,CAJ85657,EAW74637,AAI04798,AAI04828,AAB39923,AAB59004,O00170,ABZ92142,ABO16001,ACX54433 Hs.412433 ARA9|FKBP16|FKBP37|SMTPHN|XAP2 AH receptor-interacting protein|HBV X-associated protein 2|HBV-X associated protein|XAP-2|aryl hydrocarbon receptor-interacting protein|aryl-hydrocarbon receptor interacting protein|aryl-hydrocarbon receptor-interacting protein|immunophilin homolog ARA9 protein-coding 735610 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq] 1599003,70801,1580863 20801516,14555765,10615133,12374762,18408180,16272259,15489334,15469903,15365173,15347646,15249368,15180275,15081406,14702039,12477932,11929855,11548141,10331942,8889548,19753312,19959640,20042464 1599003,70801 23746 AJ830742,AJ830743,AK023970,AK314558,BC007994,BC012055,BE778451,BM685943,BX537907,BX647279,BX953335,NM_001033055,NM_001033054,NM_014336,NG_008474,AC055872,AF180472,CH471108,AF038437,AF148864,AF525970,AJ633677,AJ633678 CAH25995,CAH25996,BAB14744,BAG37143,AAH12055,CAD97892,Q659W3,Q659W4,Q6ZZB5,Q6ZZB6,Q71V08,Q7Z3H1,Q8N6A0,Q9NZN9,ABM83186,ABM86388,CAG17883,NP_001028227,NP_001028226,NP_055151,AAF26708,EAW90310,EAW90311,EAW90312,EAW90313,EAW90314,EAW90315,AAQ13422,AAF74023,AAM88405,CAG17882 Hs.279887 AIPL2|LCA4 aryl hydrocarbon receptor-interacting protein-like 1|aryl-hydrocarbon-interacting protein-like 1 protein-coding 1322440 AIRE autoimmune regulator This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CBP. At least three splice variant mRNAs products have been described including one which results in a premature stop codon and a transcript predicted to be a candidate for nuclear-mediated decay (NMD). Defects in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). [provided by RefSeq] 2306853,1599008,1580863 17474147,9398839,9398840,19322061,19265170,19264985,19261265,19209622,19124002,19863576,20218732,18616774,18616706,18682433,18606876,18600308,18568643,18461357,18324482,18320920,18292755,18200029,18194361,18083234,17997173,17974569,17938200,17928069,17850514,17697502,17687331,17675238,17323409,17220063,17118990,17101293,16890195,16774540,16552513,16313305,16310047,16246524,16114041,15964547,15894121,15886230,15712268,15696198,15649886,15482854,15157567,15150263,14974083,14734522,12651856,12625412,12542742,12477932,12173302,12050215,11836330,11803052,11600535,11533054,11524733,11524731,11298085,11275943,11274163,10830953,10748110,10677297,9931335,9931333,9888391,9735375,9717837,9267805,7987397,12929931,19328411,19446523,19744957,19758376,19807739,19811436,20085707,20093495,20140861,20185822,20226168,20363194,20602615,20718774,20734064,21048031 2306853,1599008 326 NM_000383,NM_000658,NG_009556,AB006684,AJ009610,AP001060,AP001754,CH471079,AB006682,AB006683,AB006685,AK309572,BC137268,BC137270,BC142608,Z97990 NP_000374,NP_000649,BAA23990,BAA23991,BAA23992,CAA08759,BAA95560,EAX09441,EAX09443,BAA23988,BAA23989,BAA23993,AAI37269,AAI37271,CAB10790,O43918 Hs.129829 AIRE1|APECED|APS1|APSI|PGA1 OTTHUMP00000109529|autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein|autoimmune regulator|autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) protein-coding 2306132 AIRN antisense of IGF2R RNA (non-protein coding) 19008856,18789384,11329013 100271873 AW008515,BG216164 AIR|IGF2R-AS|IGF2RAS|NCRNA00088 miscrna 1349404 AIS1 autoimmune susceptibility 1 11912181,12707860 373071 1346674 AIS2 autoimmune susceptibility 2 14691733 378426 1342580 AIS3 autoimmune susceptibility 3 (vitiligo specific) 14691733 378427 1603390 AJAP1 adherens junctions associated protein 1 19240061,18485053,17267690,16707570,16410724,14595118,12477932,9110174,8619474,19515834,19850283 55966 NM_018836,NM_001042478,AL023586,AL391808,CH471130,Z98886,AF052143,AF175409,AL049672,AL049673,AY282806,BC041648 NP_061324,NP_001035943,CAI20566,CAH72438,EAW71504,CAI22750,AAD53278,CAB41245,CAB41246,AAP35025,Q9UKB5,AAI60124 Hs.25924 MOT8|RP3-426F10.1|SHREW-1|SHREW1 adherens junction associated protein 1|adherens junction-associated protein 1|membrane protein shrew-1|transmembrane protein SHREW1 protein-coding 736701 AK1 adenylate kinase 1 Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq] 1300280,1300048,1300279,1580863,1601154 2542324,211388,17353931,18029348,19165527,18850517,18404568,16714292,16344560,15489334,12649162,12477932,12432079,12124227,10557075,10233365,9504408,9373149,8125298,7947281,6305188,3024483,2541064,183954 1300280,1300279,1601154 203 BC036803,BC100022,BT019580,CR541977,CR542004,DA077967,NG_011792,AL157935,CH471090,J04809,AB021871,AK223501,AK313758,BC001116,NM_000476 AAI00023,AAV38387,CAG46775,CAG46801,P00568,Q53EY8,Q5T9B7,Q6FGX9,ABM83502,ABM86718,NP_000467,CAI12606,CAI12607,CAI12608,EAW87706,EAW87707,EAW87708,EAW87709,AAA51686,BAA78534,BAD97221,BAG36497,AAH01116 Hs.175473 AK 1|ATP-AMP transphosphorylase 1|OTTHUMP00000022220|OTTHUMP00000216413|adenylate kinase isoenzyme 1|myokinase protein-coding 735291 AK2 adenylate kinase 2 Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1300048 20877624,9504408,6182143,19043417,19043416,18404568,17952061,16710414,15862967,15489334,14702039,12477932,10218571,9434148,8843353,6961883,195572,17643375,16344560 204 NM_001625,AL020995,CH471059,AB005621,AB005622,AB451267,AB451394,AK023758,AK291676,AK295105,AK296863,AK297036,AK307731,AY080899,AY080900,BC009405,BC026705,BC070127,BC090040,BX504559,CR590067,CR594112,CR596376,NM_013411,CR596653,CR605326,CR606091,CR606245,CR607055,CR608413,CR609421,CR615469,CR616468,CR616874,CR620027,CR621972,CR623201,U39945,U54645,U84371,NG_016269,DB206302,DC422465,NM_001199199,NR_037591,NR_037592 NP_037543,NP_001616,CAI19351,CAI19352,EAX07483,EAX07484,EAX07485,EAX07486,BAC16747,BAC16748,BAG70081,BAG70208,BAF84365,BAG58139,BAG59426,BAG59564,AAL87027,AAL87028,AAH09405,AAH70127,AAH90040,AAC52061,AAC13881,AAB41790,P54819,NP_001186128 Hs.470907 ADK2|AK 2 AK 2|ATP-AMP transphosphorylase 2|adenylate kinase 2, mitochondrial|adenylate kinase isoenzyme 2, mitochondrial protein-coding 1626587 AK2P1 adenylate kinase 2 pseudogene 1 10092943 266920 NG_002393,AF056332,AL035411 AK2B pseudo 1626554 AK2P2 adenylate kinase 2 pseudogene 2 339736 NG_009660,AL121652 pseudo 737588 AK3 adenylate kinase 3 1300048,1580863 10544043,16344560,15489334,15164053,14702039,12477932,11485571,182062,19820697,20877624,218813 50808 BI550730,BI601245,DA570364,DA718987,NG_028041,NM_001199852,NM_001199853,NM_001199854,NM_001199855,NM_001199856,NM_016282,AL136231,AL353151,CH471071,AB021870,AF086913,AF100785,AF183419,AK001553,AK001951,AK027534,AK098205,AK124824,AK298200,BC013771,BX640794 NP_001186781,NP_001186782,NP_001186783,NP_001186784,NP_001186785,NP_057366,CAI41260,CAI41262,CAH72282,CAH72283,EAW58779,EAW58780,EAW58781,BAA87913,AAP97143,AAP97224,AAG09688,BAA91753,BAA91996,BAB55183,BAG53592,BAG54101,BAG60470,AAH13771,Q7Z4Y4,Q7Z531,Q9HC01,Q9UIJ7,ABM82586,ABM85773 Hs.727617 AK3L1|AK6|AKL3L|AKL3L1|FIX AK 3|GTP:AMP phosphotransferase mitochondrial|GTP:AMP phosphotransferase, mitochondrial|OTTHUMP00000021015|adenylate kinase 3 alpha like|adenylate kinase 3 alpha-like 1|adenylate kinase 3 like 1|adenylate kinase 6, adenylate kinase 3 like 1 protein-coding 1606591 AK3L1 adenylate kinase 3-like 1 This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq] 19073142,15489334,12477932,11485571,10544043,9813319,9504419,7140357,1639383,182062,16341674,16344560,19766732,20379614 205 NM_001005353,NM_013410,AC099680,AL356212,CH471059,AK025926,AK026966,AK309057,AK313611,BC016180,BC040224,BC066944,BC136886,BC136887,BC146653,BC148270,BF205061,BM763432,BU164554,CR456830,X60673,NM_203464,BG703687,DB061266,DR003868 CAA43088,P27144,ABM83220,ABM86420,NP_982289,NP_001005353,NP_037542,CAI22412,EAX06538,EAX06540,EAX06544,BAG36374,AAH16180,AAH40224,AAH66944,AAI36887,AAI36888,AAI46654,AAI48271,CAG33111 Hs.10862 AK3|AK3L1|AK3L2|AK4|MGC166959 ATP-AMP transphosphorylase|GTP:AMP phosphotransferase|adenylate kinase 3-like 1|adenylate kinase isoenzyme 4, mitochondrial|mitochondrial adenylate kinase-3|nucleoside-triphosphate-adenylate kinase protein-coding 1605795 AK3L2 adenylate kinase 3-like 2 387851 NM_001002921,AC099680,AL356212,CR456830 NP_001002921,CAG33111,Q6IBH4 Hs.10862 AK3 protein-coding 1349421 AK3P1 adenylate kinase 3 pseudogene 1 1639383 206 NG_001070,AC134669,X60674 AK3P1 pseudo 4144669 AK3P4 adenylate kinase 3 pseudogene 4 100129959 AADB02009286,ABBA01069033,AC091981 pseudo 4144672 AK3P5 adenylate kinase 3 pseudogene 5 100288319 AL365203,NG_022166 pseudo 4144712 AK4P2 adenylate kinase 4 pseudogene 2 100132104 AC008784,AC025777,NG_021849 pseudo 4144715 AK4P4 adenylate kinase 4 pseudogene 4 100128705 AL365360,NG_021605 pseudo 4145468 AK4P5 adenylate kinase 4 pseudogene 5 100526416 AL591135,NG_027847 KIAA1424 pseudo 4144674 AK4P6 adenylate kinase 4 pseudogene 6 649288 AC079794,NG_022085 pseudo 1353587 AK5 adenylate kinase 5 This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 10215863,15489334,14702039,12477932,16169070,19647735,20379614,18029348 26289 NM_174858,NM_012093,AC093433,AC093575,AC095030,CH471059,AF062595,AF445193,AK090967,AY171600,BC012467,BC033896,BC036666,CR541890,AW665223,DN993295 NP_777283,NP_036225,EAX06377,EAX06378,EAX06379,AAD27956,AAP97322,BAC03558,AAO16520,AAH12467,AAH33896,AAH36666,CAG46688,Q8N291,Q9Y6K8 Hs.559718,Hs.597002 AK6|MGC33326 AK 5|ATP-AMP transphosphorylase 5|adenylate kinase 6|adenylate kinase isoenzyme 5 protein-coding 1320025 AK7 adenylate kinase 7 1580863 15489334,14702039,12508121,12477932,20379614,20537283 122481 NM_152327,AL163051,AL359240,CH471061,AK057426,BC023986,BC035256 NP_689540,EAW81636,EAW81637,EAW81638,EAW81639,EAW81640,BAB71480,Q96M32,ABM82637,ABM85814 Hs.667462 FLJ32864 putative adenylate kinase 7 protein-coding 1343676 AKAP1 A kinase (PRKA) anchor protein 1 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq] 2312475,2312477,2313128,1580863 8769136,12223483,18029348,19074462,18786546,18625701,17884635,16344560,15489334,15302935,15143158,14759258,12697839,12634056,12477932,12414807,11807172,11546661,11483602,10995432,10764601,18323779,19615732,10352013,9238861,9065479,7499250,10413680,20877624,20308539,20677014 2312475,2312477,2313128 8165 AC007114,CH471109,AF015910,AK292416,AK297810,AK308397,BC000729,CR594012,DA455114,U34074,X97335,NM_003488 ABW03447,NP_003479,EAW94515,EAW94516,EAW94517,EAW94518,AAB64298,BAF85105,BAG60148,AAH00729,AAC50279,CAA66000,O15113,Q92667,ABM84528 Hs.463506 AKAP|AKAP121|AKAP149|AKAP84|D-AKAP1|MGC1807|PRKA1|SAKAP84 A kinase anchor protein 1, mitochondrial|A-kinase anchor protein 1, mitochondrial|A-kinase anchor protein 149 kDa|A-kinase anchor protein, 149kD|AKAP 149|D-AKAP-1|a kinase anchor protein 1, mitochondrial|dual specificity A-kinase-anchoring protein 1|dual-specificity A-kinase anchoring protein 1|protein kinase A anchoring protein 1|protein kinase A-anchoring protein 1|protein kinase A1|protein kinase anchoring protein 1|spermatid A-kinase anchor protein 84 protein-coding 70080 AKAP10 A kinase (PRKA) anchor protein 10 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein interacts with both the type I and type II regulatory subunits of PKA; therefore, it is a dual-specific AKAP. This protein is highly enriched in mitochondria. It contains RGS (regulator of G protein signalling) domains, in addition to a PKA-RII subunit-binding domain. The mitochondrial localization and the presence of RGS domains may have important implications for the function of this protein in PKA and G protein signal transduction. [provided by RefSeq] 1580863,2312475,2312477 9326583,19496216,19209010,19056482,17786291,17485678,17143557,16956908,15489334,15488188,14531806,12646697,12477932,12206784,11807172,11248059,9238861,7505766,16189514,18029348,20877624,19462906,19578796,19797056,19857670,20159461,20453000 2312475,2312477 11216 NM_007202,NG_011493,AC005730,CH471212,AF037439,AK295180,AK308297,AK312438,BC017055,DQ270159,U00957 NP_009133,EAW50913,AAB92260,BAH12002,BAG35347,AAH17055,ABB76684,O43572,Q2XPN4,ABM82403,ABM85592 Hs.642676 D-AKAP2|MGC9414|PRKA10 A kinase anchor protein 10, mitochondrial|A-kinase anchor protein 10, mitochondrial|AKAP-10|D-AKAP-2|a kinase anchor protein 10|a kinase anchor protein 10, mitochondrial|dual specificity A kinase-anchoring protein 2|dual-specificity A-kinase anchoring protein 2|mitochondrial A kinase PPKA anchor protein 10|protein kinase A anchoring protein 10|protein kinase A-anchoring protein 10 protein-coding 736276 AKAP11 A kinase (PRKA) anchor protein 11 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq] 632175,1580863,2312475,2312477,2312637 10209101,17353931,15057823,14702039,12168954,12147701,11823486,11807172,11152471,10864471,9734811,9238861,8621616,12672969,19801982 632175,2312475,2312477,2312637 11215 NM_016248,AL136527,CH471075,AB014529,AF176555,AK002166,AK074384,CR627087 NP_057332,CAB89419,EAX08676,EAX08677,BAA31604,AAF07045,BAA92117,CAH10362,Q6AI61,Q9UKA4,AAI56136,AAI72498 Hs.105105 AKAP220|DKFZp781I12161|FLJ11304|KIAA0629|PRKA11 A-kinase anchor protein 11|A-kinase anchor protein 220 kDa|A-kinase anchoring protein, 220kDa|AKAP-11|a kinase anchor protein 220 kDa|hAKAP220|protein kinase A anchoring protein 11|protein kinase A-anchoring protein 11 protein-coding 737243 AKAP12 A kinase (PRKA) anchor protein 12 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 2312475,2312477,1580863 20029029,21115911,10858453,18029348,19210988,18950703,18579430,18554502,18397319,18199717,17577780,17442832,17442483,17200117,17081983,17081159,16762919,16642035,16344560,15923193,15590635,15345747,15258566,14657015,12857743,12477932,11807172,11766078,11316952,11309381,9880537,9604001,9238861,9000000,1522245,20979053,19724895,19851296,20018890,20198315 2312475,2312477 9590 NM_005100,NM_144497,AL033392,AL356535,AL590413,CH471051,AB003476,AB210003,AF001504,AF086250,AK024598,AK307578,AK307673,AK307739,BC000188,BC015830,BC022814,BC033829,BC047728,BC070151,BC117679,BC117680,CN480611,CR749527,CR936604,DA055364,M96322,U81607,BC046095 NP_005091,NP_653080,CAI20467,CAI20468,CAI16151,CAI13590,CAI13591,EAW47753,EAW47754,EAW47755,BAA19927,BAE06085,AAB58938,AAH47728,AAH70151,CAH18338,CAI56750,AAA35931,AAC51366,Q02952,Q5CZB5,Q6NSG9,Q86TJ9,AAI56287,AAI57068 Hs.371240 AKAP250|DKFZp686M0430|DKFZp686O0331|FLJ20945|FLJ97621 A-kinase anchor protein 12|A-kinase anchor protein 250 kDa|A-kinase anchor protein, 250kDa|AKAP 250|AKAP-12|OTTHUMP00000017426|kinase scaffold protein gravin|myasthenia gravis autoantigen gravin protein-coding 736118 AKAP13 A kinase (PRKA) anchor protein 13 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in at least 3 transcript variants encoding different isoforms containing a dbl oncogene homology (DH) domain and a pleckstrin homology (PH) domain. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway and, in addition, function as protein kinase A-anchoring proteins. [provided by RefSeq] 2312475,2312477 11756498,12376548,12787561,19696020,19779964,19888694,19911011,19960345,20353833,20379614,18029348,20936779,1860836,1618839,16301118,17353931,8290273,9891067,18519826,18445682,18093280,17878165,17081983,16964243,16956908,16469733,16412732,16234258,15691829,15489334,15324660,15249197,15229649,14702039,14660653,14636890,12972258,12672969,12663445,12477932,12423633,12270917,11696353,11579095,11546812,11285229,11278452,9627117,7929081,15383279,20719862,20696764 2312475,2312477 11214 NM_006738,NM_144767,AC021739,AC087286,AC104046,AC110592,CH471101,AB055890,AB209414,AF086293,AF126008,AF387101,AF406992,AK022014,AK026186,AK091210,AK125331,AK307618,AK309805,AK315885,AL133426,AL133427,AL133429,AL133430,AL135297,BC000269,BC009213,BC017368,BC019662,BC040109,BC050312,BC063592,BC089394,BC140862,BC171798,CR596185,M90360,NM_007200 AAI72356,NP_009131,NP_006729,NP_658913,EAX01973,EAX01974,EAX01975,EAX01976,BAB62913,BAD92651,AAD21311,AAL40923,AAL11723,BAF98776,AAH50312,AAI40863,AAI71798,AAA58670,Q12802 Hs.459211,Hs.710656 AKAP-Lbc|ARHGEF13|BRX|FLJ11952|FLJ43341|HA-3|Ht31|LBC|PROTO-LB|PROTO-LBC|c-lbc A-kinase anchor protein 13|A-kinase anchoring protein|AKAP-13|LBC oncogene|breast cancer nuclear receptor-binding auxiliary protein|guanine nucleotide exchange factor Lbc|human thyroid-anchoring protein 31|lymphoid blast crisis oncogene|non-oncogenic Rho GTPase-specific GTP exchange factor|p47|protein kinase A-anchoring protein 13 protein-coding 1353822 AKAP14 A kinase (PRKA) anchor protein 14 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 2312475,2312477 15489334,12477932,12475942,11329013 2312475,2312477 158798 NG_013218,NM_178813,NM_001008534,NM_001008535,AC002477,CH471161,AF514780,AF514781,AF514782,BC066357,BG208671 NP_848928,NP_001008534,NP_001008535,EAW89839,AAP20825,AAP20826,AAP20827,AAH66357,Q86UN6 Hs.592245 AKAP28 A-kinase anchor protein 14|A-kinase anchor protein 28 kDa|A-kinase anchoring protein 28|AKAP 28|AKAP-14|OTTHUMP00000023927|OTTHUMP00000023928|protein kinase A-anchoring protein 14 protein-coding 4143131 AKAP16B A kinase (PRKA) anchor protein 16B, pseudogene 17302988 139516 AC004835,NG_022632 pseudo 1312990 AKAP2 A kinase (PRKA) anchor protein 2 2312475,2312477 17474147,19893584,20306291,18978678,18649358,17081983,16344560,15146197,14702039,12477932,11478809,10231032,9497389,12646697,12672969,11181995 2312475,2312477 11217 CN302358,CX872067,DA564383,DB212465,DB287164,DC422367,N51499,NM_001136562,AL158823,AL353598,AJ420463,AK000306,AK022693,AK057098,AK300427,AK304311,BC010513,BC146863,BC171800,BE674805,NM_001004065,AK308388,AL110268,CH471105,CR594891,NM_001198656 Q9Y2D5,NP_001004065,NP_001130034,CAI39562,CAI40818,BAG51862,BAG62154,BAG65164,AAI46864,AAI71800,CAB53707,EAW59049,NP_001185585,EAW59050 Hs.591908,Hs.595524 AKAP-2|AKAPKL|DKFZp564L0716|FLJ53197|FLJ98336|PALM2|PRKA2 A-kinase anchor protein 2|AKAP-2|OTTHUMP00000210714|protein kinase A anchoring protein 2|protein kinase A-anchoring protein 2|protein kinase A2 protein-coding 1348905 AKAP3 A kinase (PRKA) anchor protein 3 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family, and is expressed in testis only. The encoded protein contains an RII-binding domain, and is predicted to participate in protein-protein interactions with the R-subunit of the PKA. This protein is localized to the ribs of the fibrous sheath in the principal piece of the sperm tail. It may function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. [provided by RefSeq] 2312475,2312477,1580863 10319321,17683036,16005946,15257753,14618620,12606363,12509440,12477932,11807172,11696326,11278869,10529264,10334916,9238861 2312475,2312477 10566 NM_006422,AC005832,CH471116,AF087003,AF093408,AK074722,AK292451,BC047535,U85715 NP_006413,EAW88840,AAC35854,AAC63371,BAG51992,BAF85140,AAH47535,AAD21218,O75969 Hs.98397 AKAP110|CT82|FSP95|PRKA3|SOB1 A-kinase anchor protein 110 kDa|A-kinase anchor protein 3|A-kinase anchor protein, 110kDa|AKAP 110|AKAP-3|Fibrous Sheath Protein of 95 kDa|cancer/testis antigen 82|fibrous sheath protein, 95kDa|fibrousheathin 1|fibrousheathin I|fibrousheathin-1|protein kinase A anchoring protein 3|protein kinase A-anchoring protein 3|sperm oocyte-binding protein 1 protein-coding 732830 AKAP4 A kinase (PRKA) anchor protein 4 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 2312475,2312477,1580863 9822690,12509440,17712481,17683036,15772651,15489334,12606363,12477932,11807172,11476771,9852104,9514854,9238861 2312475,2312477 8852 NM_003886,NM_139289,NG_012552,AL663119,CH471180,AF072756,AK292463,BC033007,BC070150,BC126250,BC126252,Y15195,HC006776,HC044697 NP_003877,NP_647450,CAI41557,CAI41558,CAI41559,CAI41561,EAW89924,EAW89925,EAW89926,AAC79433,BAF85152,AAI26251,AAI26253,CAA75494,Q5JQC9,CBH19194,CBH30678 Hs.97633 AKAP 82|AKAP-4|AKAP82|CT99|FSC1|HI|PRKA4|hAKAP82|p82 75 kda fibrous sheath protein|A-kinase anchor protein 4|A-kinase anchor protein 82 kDa|OTTHUMP00000023290|OTTHUMP00000023291|cancer/testis antigen 99|major sperm fibrous sheath protein|protein kinase A anchoring protein 4|protein kinase A-anchoring protein 4|testis-specific gene HI protein-coding 1345297 AKAP5 A kinase (PRKA) anchor protein 5 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq] 2313287,2312475,2312477,2313290,2313247,1580863 17081159,18311135,12507994,12477932,12177200,12114507,12077483,11886862,11823486,11807172,11557526,11287423,11179200,10939335,10762347,10753752,10537145,10037748,9765270,9238861,9202019,8509414,7528941,1860836,1733921,1618839,20410303,20883492,1512224,18950703,18305116,17548344,16973443,16940053,16344560,15671033,12938160,12672969,12595241 2313287,2312475,2312477,2313290,2313247 9495 NM_004857,AL122035,CH471061,AK315336,BC057229,BC131516,DA942424,M90359 AAH57229,NP_004848,EAW80862,BAG37736,AAI31517,AAA58363,P24588,Q6PG46 Hs.656683 AKAP75|AKAP79|H21 A-kinase anchor protein 5|A-kinase anchor protein 79 kDa|A-kinase anchor protein, 79kDa|A-kinase anchoring protein 75/79|AKAP 79|AKAP-5|OTTHUMP00000174435|cAMP-dependent protein kinase regulatory subunit II high affinity binding protein|cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein protein-coding 69458 AKAP6 A kinase (PRKA) anchor protein 6 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq] 1580863,2312475,2312477,68716 10413680,10830164,7721854,15342556,14702039,12754202,12477932,12168954,11807172,11352932,11296225,9238861,9205841,12672969,20677014,19109240,21079607,17474147,20106966 2312475,2312477,68716 9472 NM_004274,AL049781,AL117672,AL132988,AL136298,CH471078,AB002309,AK094160,BC137232,BC137233,BC150185,BC150288,BC154413,BP230135,U17195 NP_004265,EAW65931,EAW65932,EAW65933,BAA20770,AAI37233,AAI37234,AAI50186,AAI50289,AAI54414,AAA92354,Q13023 Hs.509083 ADAP100|ADAP6|AKAP100|KIAA0311|MGC165020|PRKA6|mAKAP A-kinase anchor protein 100 kDa|A-kinase anchor protein 6|AKAP 100|AKAP-6|protein kinase A anchoring protein 6|protein kinase A-anchoring protein 6 protein-coding 1350760 AKAP7 A kinase (PRKA) anchor protein 7 This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described. Additional variants exist, but their full-length natures have not been determined. [provided by RefSeq] 2312475,2312477,2312630,1303982,1580863,2312656 17643375,19615732,20379614,9545239,10613906,18082768,17244820,15489334,14574404,12804576,12672969,12477932 2312475,2312477,2312630,1303982,2312656 9465 NM_016377,NM_138633,NM_004842,AL136110,BC141927,CR618092,AL137222,CH471051,AB451273,AB451400,AF152929,AF161075,AK290271,AK300587,AK311820,BC016927,BC063499,BC073847,BC094732,BC110897,BC118601,BC118606,BC128398,BC128399,BC141926,AL137063 NP_057461,NP_619539,NP_004833,CAI21507,CAI21508,CAI21509,AAI41927,AAI41928,O43687,Q2TAJ5,Q6P4D3,Q9P0M2,AAI52941,AAI56907,CAI19002,CAI19003,CAI19788,EAW48057,EAW48058,EAW48059,EAW48060,BAG70087,BAG70214,AAF28106,AAF26676,BAF82960,BAG62285,BAG34762,AAH16927,AAH63499,AAH73847,AAH94732,AAI10898,AAI18602,CAI19001,AAI18607,AAI28399,AAI28400 Hs.486483 AKAP15|AKAP18 A-kinase anchor protein 18 kDa|A-kinase anchor protein 7 isoform alpha|A-kinase anchor protein 7 isoform gamma|A-kinase anchor protein 7 isoforms alpha and beta|A-kinase anchor protein 7, isoform alpha|A-kinase anchor protein 9 kDa|A-kinase anchor protein, 18-kD|A-kinase anchoring protein 18|AKAP 18|AKAP-7 isoform gamma|AKAP-7 isoforms alpha and beta|protein kinase A anchoring protein 7|protein kinase A-anchoring protein 7 isoform gamma|protein kinase A-anchoring protein 7 isoforms alpha/beta protein-coding 731444 AKAP8 A kinase (PRKA) anchor protein 8 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is located in the nucleus during interphase and is distinctly redistributed during mitosis. This protein has a cell cycle-dependent interaction with the RII subunit of PKA. [provided by RefSeq] 2312475,2312477,1580863 9473338,18029348,17081983,16964243,16227597,15302935,15057824,14743216,14641107,12740381,12477932,12414807,11964380,11807172,11279182,10791967,10601332,9238861 2312475,2312477 10270 NM_005858,AC005785,AC093060,CH471106,AK308251,AK309529,AL050160,BC037270,Y11997,AK303640 NP_005849,AAC62838,EAW84474,CAB43301,AAH37270,CAA72722,O43823,Q8NE02,Q9UG73,BAH14004 Hs.726377 AKAP95|DKFZp586B1222 A-kinase anchor protein 8|A-kinase anchor protein 95 kDa|A-kinase anchor protein, 95kDa|AKAP 95|AKAP-8 protein-coding 1347470 AKAP8L A kinase (PRKA) anchor protein 8-like 1580863 10748171,17353931,18313049,10761695,17594903,16391387,15489334,15302935,14743216,14702039,12950172,12538639,12477932,12107412,11402034,11034899,10697960,9853615,9373149,8889548,8125298 26993 BM726437,BQ006924,BQ185989,BU740636,CD672169,AC005785,AC006128,CH471106,AB015332,AB025905,AB451326,AB451469,AF199414,AJ243467,AK001594,AK094736,AK225046,AK225291,AK295956,AK310990,AL133576,BC000713,BI458860,NM_014371 Q9UF73,Q9ULX6,ABM82779,ABM85969,NP_055186,EAW84475,EAW84476,EAW84477,EAW84478,BAA34791,BAA85003,BAG70140,BAG70283,AAF86048,CAB65092,BAG50946,BAG58736,CAB63723,AAH00713 Hs.399800 DKFZp434L0650|HA95|HAP95|NAKAP|NAKAP95 A-kinase anchor protein 8-like|AKAP8-like protein|helicase A-binding protein 95 kDa|homologous to AKAP95 protein|neighbor of A kinase anchoring protein 95|neighbor of A-kinase anchoring protein 95|neighbor of A-kinase-anchoring protein 95|neighbor of AKAP95 protein-coding 1349720 AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq] 631928,2312475,2312477,1580863 9482789,10390370,10202149,19242490,19086053,19073175,18334708,18093912,17352745,16741161,16356588,16339516,16198290,15670215,15630448,15047863,14982933,14702039,12853948,12690205,12477932,12270714,12221128,10862698,12163479,12036294,12015314,11799244,10945988,10358086,9915845,9872452,12672969,11076968,12852856,16462731,16980960,17148452,18029348,20106900,20231423,20379614,20453000,7790358 631928,2312475,2312477 10142 NM_147185,NG_011623,AC000066,AC000120,AC003086,AC004013,AJ010770,CH236949,CH471091,AB018346,AB019691,AF026245,AF083037,AF091711,AF247727,AJ131693,AK000270,AK025160,AK026444,AK057546,AK074869,AL117418,AY528715,BC015533,BC027455,BC040932,NM_005751,CR997756,BC062448 NP_005742,NP_671714,AAC60380,AAS07419,AAB96867,CAA09361,EAL24155,EAL24156,EAL24157,EAL24158,EAW76860,EAW76861,EAW76862,EAW76863,EAW76864,EAW76865,EAW76866,EAW76867,EAW76868,BAA34523,BAA78718,AAB86384,AAD22767,AAD39719,AAK51115,CAB40713,BAG52021,CAB55912,AAT44400,AAH15533,AAH40932,Q5GIA7,Q5IBP5,Q6PJH3,Q8IW64,Q96KG3,Q99996,Q9UFL2 Hs.651221 AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|KIAA0803|MU-RMS-40.16A|PRKA9|YOTIAO A-kinase anchor protein 350 kDa|A-kinase anchor protein 450 kDa|A-kinase anchor protein 9|AKAP 120-like protein|AKAP9-BRAF fusion protein|centrosome- and Golgi-localized PKN-associated protein|kinase N-associated protein|protein hyperion|protein kinase A anchoring protein 9|protein yotiao protein-coding 1604680 AKD1 adenylate kinase domain containing 1 12477932,11181995 401271 NM_001001706,NM_001146303,AL109947,AL121788,AL139391,CH471051,AK131244,BC087860 NP_001001706,NP_001139775,EAW48336,BAD18424,AAH87860,Q6ZNF1,AAI46444,AAI53056 Hs.205144 FLJ42177 protein-coding 1354002 AKD2 adenylate kinase domain containing 2 16344560,14702039,12477932 221264 NM_145025,NM_001145128,NG_007977,AL121788,AL133472,CH471051,AK055538,AK124171,AK315561,AL832162,BC022031,DA106296,DW009925 NP_659462,NP_001138600,CAI22498,CAI22499,CAI22500,CAI19667,CAI19668,EAW48333,EAW48334,EAW48335,BAB70945,BAG37937,AAH22031,Q5TCS8,Q5TDU3,ACE87212,ACE86533 Hs.486169 C6orf199|FLJ34784|FLJ42177|MGC26954|RP1-70A9.1|dJ70A9.1 protein-coding 1606232 AKIRIN1 akirin 1 16710414,15489334,14702039,12477932,9373149,8125298,18066067 79647 NM_024595,AL606465,CH471059,AK022728,AK092624,AK124799,AK126262,AK223276,AY326465,BC001498,BC119745,BC119746,AK298890,AK303098,DB727813,NM_001136275 NP_078871,CAI16710,EAX07283,EAX07284,EAX07285,BAB14208,BAD96996,AAR99515,AAI19746,AAI19747,Q6EHZ2,Q9H9L7,BAG61002,NP_001129747,BAG64208 Hs.293563 C1orf108|FLJ12666|RP11-781D11.2|STRF2 akirin-1 protein-coding 1317188 AKIRIN2 akirin 2 18066067,18460465,17081983,16189514,15489334,14702039,14574404,12477932,9373149,8125298 55122 NM_018064,AL133211,CH471051,CQ859732,AK001204,AK222701,BC000764,BC003042,BC005051,BM996262,CR599380,CR624811 NP_060534,CAI21541,EAW48578,CAH25916,BAA91551,BAD96421,AAH00764,AAH03042,AAH05051,Q53H80,Q9NW35 Hs.485915 C6orf166|FBI1|FLJ10342|dJ486L4.2 akirin-2|fourteen-three-three beta interactant 1 protein-coding 1317844 AKNA AT-hook transcription factor 15869410,14702039,12477932,11853319,11268217,19913121,20628086,20507260 80709 NM_030767,AL356796,CH471090,AB075848,AF286341,AK024431,AK055563,AK074040,AK090503,AK098036,AK126136,AK131082,AK160382,AL713755,AL833220,AY703039,AY703040,AY703041,AY703042,AY703043,AY703044,AY703045,AY703046,BC042202,BC055285 NP_110394,CAI16861,CAI16862,CAI16863,EAW87418,EAW87419,BAB85554,AAK83024,BAB15721,BAB84866,BAC85132,BAD18725,AAU34186,AAU34187,AAU34188,AAU34189,AAU34190,AAU34191,AAU34192,AAU34193,AAH42202,AAH55285,Q64FX5,Q64FX9,Q64FY0,Q64FY1,Q7Z591 Hs.494895 FLJ31001|FLJ33184|KIAA1968|RP11-82I1.4 AKNA transcript F2|AT-hook transcription factor AKNA|AT-hook-containing transcription factor|OTTHUMP00000021973|OTTHUMP00000021974 protein-coding 68486 AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq] 1300048 2498333,15231747,19423521,18676680,18495158,17149600,16543247,15769597,15489334,15299353,12477932,11716357,11444797,10510318,10486210,10393438,9693960,8405190,8268209,7827091,7669785,3615425,2113526,1901806,1602151,19170196,19625176,19692168,20453000,16344560 10327 NM_153326,AF036683,AF112482,AF112485,AL355480,CH471059,AK293083,AK307068,AK307237,NM_006066,AK307288,BC000670,BC005394,BC033287,BT007003,CR457010,CR593332,CR593548,CR598490,CR600290,CR604674,CR605893,CR606043,CR607253,CR613190,CR614844,CR616472,CR616743,CR617059,CR621968,J04794,AU142853,BI549149,BU631634,CX788871,DA550374,DA871469,NM_001202413,NM_001202414 NP_006057,NP_697021,AAB92369,AAF01260,CAI22458,CAI22459,EAX06970,EAX06971,EAX06972,EAX06973,EAX06974,BAF85772,AAH00670,AAH05394,AAP35649,CAG33291,AAA51711,P14550,Q5T621,ABM81608,ABM84696,ABM84791,NP_001189342,NP_001189343 Hs.474584 ALDR1|ALR|ARM|DD3|MGC12529|MGC1380 OTTHUMP00000009240|alcohol dehydrogenase|alcohol dehydrogenase [NADP+]|aldehyde reductase|aldo-keto reductase family 1 member A1|dihydrodiol dehydrogenase 3 protein-coding 732178 AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq] 1300048,1580863,1626081,1626080,1626089,1626092,734542,1599728,1626082,1626083,1626084,1626087,1626088,1626079 8645003,2112546,17353931,8435445,19422879,19420105,18716049,18495158,18451330,18434430,18385795,17968325,17851230,17563730,17418233,17270157,17139089,17018629,16936152,16911628,16701918,16620264,16545977,16176189,16174723,16021519,15973199,15745835,15637423,15569136,15504980,15489334,15284221,15284219,15277434,15270790,15251463,15231748,15181092,15162486,14996095,14694018,14694017,14662023,14582038,12690205,12660865,12604221,12486717,12477932,12446366,11958479,11874426,11842041,11796181,11499839,11449315,11444797,11306081,11182213,11095596,10510318,10075698,9565553,9405046,9195951,8877273,8615700,8405190,8347133,8343525,8281941,8268209,8245005,8234324,7789640,6417042,2510130,2504709,2498333,2492527,2111143,1901857,1901827,1621098,1447221,18029348,21067489,21067572,20354121,15583024,19760097,19821053,16928730,19273550,19850041,20093363,20150532,20353610,20424224,19913121,20628086,19847669 1626081,1626080,1626089,1626092,734542,1599728,1626082,1626083,1626084,1626087,1626088,1626079 231 NM_001628,AC078847,AF032455,CH236950,CH471070,M34721,M59783,U72619,AB209796,AF328729,AK311339,AK313439,AL833410,BC000260,BC005387,BC010391,BT019859,CR450351,CR542203,CR591235,CR591599,CR592404,CR592719,CR593981,CR594672,CR595528,CR597034,CR600539,CR601476,CR602165,CR603262,CR607427,CR608857,CR609448,CR609712,CR610827,CR610878,CR610975,CR613806,CR614574,CR614916,CR615638,CR617008,CR617893,CR619588,CR620415,CR622029,CR622135,CR622659,CR625913,J04795,J05017,J05474,M34720,X15414,HH961838 NP_001619,AAB88851,EAL24070,EAW83814,EAW83815,AAA35561,AAA51712,AAB61992,BAD93033,AAN09721,BAG36230,AAH00260,AAH05387,AAH10391,AAV38662,CAG29347,CAG47000,AAA51713,AAA51714,AAA51715,AAA35560,CAA33460,O15289,P15121,Q59EL5,ABM81684,ABM83472,ABM84847,ABM86683,CBX51392 Hs.521212 ADR|ALDR1|ALR2|AR|MGC1804 Lii5-2 CTCL tumor antigen|OTTHUMP00000207728|aldehyde reductase 1|aldehyde reductase 1 (low km aldose reductase) (5.8 kb psti fragment, probably the functional gene)|aldo-keto reductase family 1 member B1|aldose reductase|low Km aldose reductase protein-coding 1317959 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq] 1580863,2311149,2311151,2311150 19913121,20628086,19643728,20007578,20036025,19028477,18788756,18396902,18358633,18325492,18087047,17905306,17597105,17425679,17300864,17209433,16204895,16127462,15936242,15928807,15745835,15489334,12882871,12732097,12477932,12365083,11703436,9765596,9537432,8889548,19236911,9565553,18056116,19563777,19464995,20586184,20705797 2311149,2311151,2311150 57016 NM_020299,AC078847,CH236950,CH471070,AF044961,AF052577,AF524864,BC008837,BM975664,BT006794,CR541801,U37100 NP_064695,EAL24069,EAW83816,AAC15671,AAC36465,AAO13380,AAH08837,AAP35440,CAG46600,AAC17469,O60218,ABM81604,ABW03272 Hs.116724 AKR1B11|AKR1B12|ALDRLn|ARL-1|ARL1|HIS|HSI|MGC14103 ARP|SI reductase|aldo-keto reductase family 1 member B10|aldo-keto reductase family 1, member B11 (aldose reductase-like)|aldose reductase-like 1|aldose reductase-like peptide|aldose reductase-related protein|hARP|small intestine reductase protein-coding 3516654 AKR1B15 aldo-keto reductase family 1, member B15 12477932,12690205,20877624 441282 AC078847,BC072676,BX335355,CH236950,CH471070,CR607509,CR612412,NM_001080538 C9JRZ8,EAL24068,EAW83819,NP_001074007 Hs.116724 AKR1B10L OTTHUMP00000207847|aldo-keto reductase family 1, member B10-like|aldo-keto reductase family 1, member B15|putative aldo-keto reductase family 1 member B15 protein-coding 1345706 AKR1B1P1 aldehyde reductase family 1, member B1 pseudogene 1 8244370 401982 NG_006432,AC096537 ALDRL1 pseudo 1343467 AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 8244370,1612607 236 NG_001071,AC117458,M84454 ALDRP pseudo 1351686 AKR1B1P3 aldo-keto reductase family 1, member B1 pseudogene 3 8244370 729347 NG_007132,AC100865 ALDRL3 pseudo 1349917 AKR1B1P4 aldo-keto reductase family 1, member B1 pseudogene 4 8244370 390402 NG_006989,AL139320 ALDRL4 pseudo 1345288 AKR1B1P5 aldo-keto reductase family 1, member B1 pseudogene 5 390482 NG_007013,AL359219 AKR1B1P pseudo 3207496 AKR1B1P6 aldo-keto reductase family 1, member B1 pseudogene 6 100129769 AP001793,NG_017129 pseudo 1626550 AKR1B1P7 aldo-keto reductase family 1, member B1 pseudogene 7 126242 NG_009664,AC008744 pseudo 1626553 AKR1B1P8 aldo-keto reductase family 1, member B1 pseudogene 8 392525 NG_009682,BX546470 pseudo 1315695 AKR1C1 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq] 1626148,1580863 16712791,8486699,7789999,16079077,19487289,19423521,19218247,18984031,18654764,17945194,17697149,17618725,17149600,16543247,16385451,19320734,19696165,19846565,20201926,16361083,16338060,15494612,15492289,15489334,15212687,15164054,13678667,12899831,12733716,12579257,12477932,11956619,11514561,11013348,10672042,10510318,8573067,8274401,8172617,8132567,8011662,7626489,7515059,20689807 1626148 1645 BC040210,BM923712,BT007197,CB119749,CR611068,D26124,M86609,S68290,U05684,NM_001353,AB032150,AC091817,AL713867,U05861,AB031083,AK310658,BC015490,BC020216 AAH40210,AAP35861,BAA05121,AAB02880,AAD14012,AAA16227,Q04828,ABM82410,ABM84849,NP_001344,BAA92886,CAI16409,CAI16410,AAA18115,BAA92883,AAH15490,AAH20216 Hs.460260 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DDH|DDH1|H-37|HAKRC|MBAB|MGC8954 20 alpha-hydroxysteroid dehydrogenase|20-alpha-hydroxysteroid dehydrogenase|DD1/DD2|HBAB|OTTHUMP00000018993|aldo-keto reductase C|aldo-keto reductase family 1 member C1|chlordecone reductase homolog HAKRC|dihydrodiol dehydrogenase 1|dihydrodiol dehydrogenase 1/2|dihydrodiol dehydrogenase isoform DD1|hepatic dihydrodiol dehydrogenase|high-affinity hepatic bile acid-binding protein|indanol dehydrogenase|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type II 3-alpha-hydroxysteroid dehydrogenase protein-coding 1353901 AKR1C2 aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq] 1626148,1580863 20840669,8573067,19487289,19258517,18984855,18654764,18396902,18251165,17432832,17203165,16478829,16411748,16216911,15492289,15489334,15383625,15212687,15188492,14702039,14671194,13678667,12810547,12477932,12416991,11854486,11514561,11513593,10672042,9716498,8920937,8486699,8274401,8011662,7959017,7789999,2187532,19320734,19754879,19846565,20056642,20689807,20734064 1626148 1646 NM_205845,NM_001354,AB032153,AL391427,AL713867,L32592,AB021654,AB031084,AB209017,AK091194,AK290304,AK296419,AK308385,BC007024,BC063574,BT006653,M33376,S68330,U05598,AK296686,NM_001135241 NP_995317,NP_001345,BAA92891,CAI16408,AAB38486,BAA36169,BAA92884,BAD92254,BAF82993,BAG59081,AAH07024,AAH63574,AAP35299,AAD14013,AAA20937,P52895,Q59GU2,ABM81606,ABM84788,BAG59281,NP_001128713 Hs.460260,Hs.567256 AKR1C-pseudo|BABP|DD|DD2|DDH2|FLJ53800|HAKRD|HBAB|MCDR2 3-alpha-HSD3|DD-2|DD/BABP|aldo-keto reductase family 1 member C2|chlordecone reductase homolog HAKRD|dihydrodiol dehydrogenase 2|dihydrodiol dehydrogenase/bile acid-binding protein|pseudo-chlordecone reductase|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type II dihydrodiol dehydrogenase|type III 3-alpha-hydroxysteroid dehydrogenase 2315438 INSUL41_H protein-coding 1352888 AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq] 1580863 19170196,19273550,19320734,19460435,19574343,19625176,19692168,19846565,20036328,20086173,20126582,20145130,20201926,20379614,20453000,9792917,11256614,19487289,19423521,19336506,19336370,19162045,18996480,18984855,18692800,18676680,18641923,18632753,18574251,18552976,18339682,18306354,17940109,17697149,17583494,17507624,17220347,17166832,17149600,17071532,16983398,16601286,16480815,16475787,16381901,16338060,16337083,16302261,16263811,16189514,16169070,15814298,15781210,15582534,15489336,15489334,15284179,15212687,15164054,15087468,14997212,14996743,14979715,14671194,13678667,12477932,11165022,11076863,10998348,10672042,10622721,10557352,10393440,9927279,9862446,9415401,8718859,8274401,7789999,7788527,7650035,7626489,19942269,20634197,20689807,20661409,20734064,21039282 8644 AB028065,AB032157,AL391427,CH471072,L43839,AB018580,AF149416,AK290365,AK296829,AK310940,AK315411,AV761799,BC001479,BC019230,BT007286,D17793,DQ269985,S68288,NM_003739 NP_003730,BAA88489,BAA92892,EAW86452,EAW86453,EAW86454,AAB41916,BAA88488,AAF07272,BAF83054,BAG59399,AAH01479,AAH19230,AAP35950,BAA04619,ABB76132,AAD14011,P42330,Q2XPP3,CAL37801,ABM81605,ABM84786,ACT64584,ACT64585 Hs.78183 DD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|KIAA0119|PGFS|hluPGFS 3-alpha-HSD type II, brain|aldo-keto reductase family 1 member C3|chlordecone reductase homolog HAKRb|dihydrodiol dehydrogenase 3|dihydrodiol dehydrogenase X|indanol dehydrogenase|prostaglandin F synthase|testosterone 17-beta-dehydrogenase 5|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type IIb 3-alpha hydroxysteroid dehydrogenase protein-coding 1347108 AKR1C4 aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq] 1580863 11158055,7650035,8172617,2187532,19013211,18676680,17207797,16344854,15987428,15489334,15164054,12544512,12477932,12220531,11284743,10672042,10634139,8274401,7789999,7626489,1530633,16385451,19170196,19625176,19692168,20201926,20214802 1109 NM_001818,AB032163,AL355303,CH471072,D89962,AB031085,AB045829,AK314988,BC020744,D26125,M33375,S68287 NP_001809,BAA92893,EAW86450,BAB43901,BAA92885,BAA99542,AAH20744,BAA05122,AAA35658,AAD14010,P17516,Q96SD9,ABM82350,ABM85524 Hs.567245 3-alpha-HSD|C11|CDR|CHDR|DD4|HAKRA|MGC22581 3 alpha-hydroxysteroid dehydrogenase/dihydrodiol dehydrogenase 4|3-alpha-HSD1|3-alpha-hydroxysteroid dehydrogenase type I|DD-4|OTTHUMP00000018997|aldo-keto reductase family 1 member C4|chlordecone reductase|dihydrodiol dehydrogenase 4|dihydrodiol dehydrogenase isozyme DD4|type I 3-alpha-hydroxysteroid dehydrogenase protein-coding 1316753 AKR1CL1 aldo-keto reductase family 1, member C-like 1 15164054,12477932 340811 AL355303,CH471072,AK131335,BC101204,BC101205,NR_027916 EAW86451,BAD18494,AAI01205,AAI01206,Q5T2L2 Hs.282513 FLJ16347 pseudo 1320023 AKR1CL2 aldo-keto reductase family 1, member C-like 2 1580863 16344560,15118078,12604216,12477932,8889548,20662065,17207965,16385451 83592 DA006578,AC091817,CH471072,AB040820,AB040821,AB040822,AB055603,AF263242,AK074211,AK302155,BC002862,BC023972,BU741321,NM_001040177,CR598545 Q96JD6,NP_001035267,EAW86461,EAW86462,EAW86463,EAW86464,EAW86465,EAW86466,BAC54565,BAC54566,BAC54567,BAC54568,AAK58523,BAH13638,AAH02862,ADQ32301 Hs.657944 AKR1CL2|AKRDC1|LoopADR|MGC10612 1,5-anhydro-D-fructose reductase|AF reductase|aldo-keto reductase family 1 member C-like protein 2|aldo-keto reductase family 1, member C-like 2|aldo-keto reductase loopADR|aldo-keto reductase related protein|hTSP|testis-specific protein protein-coding 736637 AKR1D1 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. [provided by RefSeq] 1580863 20800085,19212619,20522910,7508385,19075558,19013211,18848863,18407998,16123077,12690205,11342103,11329013,10343119,9024384,16712791,12477932,19175828,20379614 6718 NG_023342,NM_001190906,NM_001190907,NM_005989,AC024082,AC083867,AF283651,AF283652,AF283653,AF283654,AF283655,AF283656,AF283657,AF283658,AF283659,CH236950,CH471070,AK058142,AK289425,AK298421,AK298428,BC130625,BC130627,BG210362,CB111926,FM160741,FM160742,FM160743,Z28339 NP_001177835,NP_001177836,NP_005980,AAG39381,EAL24049,EAW83881,EAW83882,BAB71682,BAF82114,BAG60645,BAG60650,AAI30626,AAI30628,CAQ55951,CAQ55952,CAQ55953,CAA82193,P51857,Q96LK9,ADR83138 Hs.201667 3o5bred|CBAS2|SRD5B1 3-oxo-5-beta-steroid 4-dehydrogenase|OTTHUMP00000208645|aldo-keto reductase family 1 member D1|delta(4)-3-ketosteroid 5-beta-reductase|delta(4)-3-oxosteroid 5-beta-reductase|steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) protein-coding 1345885 AKR1D1P aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) pseudogene 11342103,10343119 80701 NG_002683,AF283650,AL031733 AKR1D1P|SRD5BP1 steroid-5-beta-reductase, beta polypeptide pseudogene 1 pseudo 732683 AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A2, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM] 1580863 9576847,19077459,18752886,17591773,16710414,16429158,15489334,12879023,12477932,12071861,9823300,9373149,8125298,16189514,15967462,20877624,21044367 8574 NM_003689,AL035413,CH471134,AF026947,AK225267,AK303131,AK310609,BC004111,BC007352,BC010852,BC011586,BC012171,BC013996,BK000395,BT007347,CR597954,CR603343,CR606608,CR606766,CR610843,CR614593,CR617181,CR618917,CR625016,Y16675 NP_003680,CAB72321,EAW94881,AAC52104,BAG64236,AAH04111,AAH07352,AAH10852,AAH11586,AAH12171,AAH13996,DAA00088,AAP36011,CAA76347,O43488,ABM81929,ABM85108 Hs.571886 AFAR|AFAR1|AFB1-AR1|AKR7 AFB1 aldehyde reductase 1|AFB1-AR 1|OTTHUMP00000215517|OTTHUMP00000215519|SSA reductase|aflatoxin B1 aldehyde reductase member 2|aflatoxin beta1 aldehyde reductase|aldoketoreductase 7|succinic semialdehyde reductase protein-coding 4144516 AKR7A2P1 aldo-keto reductase family 7, member A2 pseudogene 1 12879023,19706366 246182 AJ277796,AL158844,NR_002796 CAC81911,Q8NHP2 Hs.647691 AFARP1 pseudo 733693 AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM] 1580863 10383892,16710414,16189514,15489334,12879023,12477932,20453000 22977 NM_012067,AL035413,CH471134,AA844782,AF040639,AJ271799,BC025709,BC031562,BC042420,BG747063,BM855386,BM920315 NP_036199,CAI22232,EAW94878,EAW94879,AAD02195,CAC81076,AAH25709,AAH31562,AAH42420,O95154,ABW03686,ABW03342,ACE87324,ACE86642 Hs.6980 AFAR2 AFB1 aldehyde reductase 2|AFB1-AR 2|aflatoxin B1 aldehyde reductase 2|aflatoxin B1 aldehyde reductase member 3|aflatoxin b1 aldehyde reductase protein-coding 1605840 AKR7L aldo-keto reductase family 7-like This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. This family member encodes a selenoprotein, which contains a selenocysteine (Sec) residue. The selenocysteine is encoded by a UGA codon that normally signals translational termination. Selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 16710414,12879023,12604248,12477932,20171287 246181 NM_001145289,NM_201252,AL035413,CH471134,AJ278012,BC035351,BX281656 NP_001138761,NP_957704,EAW94876,EAW94877,CAC79668,AAH35351,Q8NHP1 Hs.662342 AFAR3|AKR7A4 AFB1 aldehyde reductase 3|AFB1-AR 3|aflatoxin B1 aldehyde reductase 3|aflatoxin B1 aldehyde reductase member 4|aldoketoreductase 7-like protein-coding 732909 AKT1 v-akt murine thymoma viral oncogene homolog 1 The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1643334,1643330,1643332,1643333,734957,625444,1643331,2311130,2313763,2313556,2315600,2306432,2291891,2290458,1580863,734544,734543,1358369 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5980,18395956,18392055,18374639,18356162,18355897,18355439,18353776,18351386,18339899,18332868,18332867,18332138,18331557,18323784,18319625,18317451,18316593,18309287,18273051,18270579,18264090,18262492,18256540,18249092,18247380,18240972,18227124,18216097,18204829,18204201,18201823,18199536,18199533,18198266,18197291,18187454,18184439,18182859,18174256,18172656,18167217,18097023,18087195,18083769,18079201,18071906,18064631,18063683,18059161,18053070,18048937,18048359,18046412,18041764,18037896,18035048,18023414,18021174,17977950,17962807,17960583,17959676,17957242,17951252,17950696,17935714,17932490,17928528,17925408,17924977,17921701,17915974,17914096,17914025,17909223,17906677,17901375,17898861,17895832,17892507,17890457,17883592,17868340,17855350,17827393,17826033,17825284,17825267,17823925,17822324,17804734,17804197,17761832,17726016,17725107,17721920,17721885,17716861,17712528,17696196,17687643,17681738,17666398,17638918,17635910,17616691,17616684,17616681,17615157,17612563,17611497,17609269,17606718,17601486,17599906,17599831,17584963,17581609,17580302,17577629,17569669,17566113,17565979,17553806,17551921,17549359,17546049,17544543,17544405,17522703,17522055,17521720,17520698,17513702,17513297,17512923,17507800,17507655,17504381,17501982,17495959,17495954,17493174,17483438,17478078,17471535,17470458,17469127,17468516,17462862,17461449,17458890,17443665,17428466,17406055,17404186,17400190,17386267,17383860,17375124,17360849,17351066,17342093,17335965,17333095,17318262,17317825,17317726,17310852,17307335,17300918,17299206,17287851,17276404,17244606,17235455,17233643,17215852,17214972,17179152,17173971,17169805,17151107,17148458,17143278,17141917,17136481,17136479,17128418,17113264,17099727,17098228,17097759,17088265,17081983,17068339,17065200,17060455,17052453,17050554,17043653,17041888,17024099,17016437,17015676,17012749,17008323,17006756,16990258,16988010,16987250,16987028,16981720,16977260,16972255,16962653,16951146,16946008,16932738,16926151,16916907,16912864,16897758,16862180,16849522,16844778,16842970,16840713,16839745,16822839,16820947,16820098,16818690,16797529,16792529,16790529,16790501,16785234,16775835,16774943,16763222,16732486,16723503,16684529,16682946,16670089,16651639,16644866,16616456,16601838,16583435,16571745,16568092,16564100,16551632,16549426,16543232,16537497,16532036,16532026,14973226,10527852,10497255,10491192,10490823,10485711,10454575,10438924,10376602,10358014,10226025,10224060,10217147,10102273,10085094,10082674,9973250,9736715,9512493,9395488,9394803,9368760,9019819,9005852,8524413,7774014,3384441,3037531,1718748,1533586,16841089,16524887,10869418,17157319,15689238,11208609,15616007,17891137,18292230,18931307,19074868,11313365,9312003,16362038,11162552,15843522,12586360,16009706,14970221,11500364,11278894,15545269,11773441,15910284,12446789,15342917,15149849,14749388,14749719,14499622,15818404,15580267,15688030,15678105,20560677,20872231,20980511,11723139,12244133,15173318,15527798,16098514,16107690,16210317,16272144,16604263,16836907,17006541,17210635,17318185,17533377,17535800,17554339,17706139,17927847,18072631,18191226,18439422,18479604,18583979,18624398,19062713,19070520,19142997,19170196,19176054,19188658,19193378,19261608,19353338,19356729,19377290,19405949,19407222,19409087,19418217,19428048,19429661,19437103,19453843,19458356,19473116,19473971,19479902,19482076,19483721,19484147,19488783,19503105,19520917,19533041,19541408,19553815,19556867,19560862,19564927,19567200,19584164,19588500,19589780,19590514,19592491,19595713,19596916,19597469,19609946,19621391,19622752,19625176,19628576,19633364,19635908,19636556,19638627,19639178,19639199,19641183,19644051,19646290,19649722,19655166,19655410,19655414,19657064,19676105,19679016,19681907,19684620,19692168,19700402,19713527,19721393,19723094,19723095,19726550,19726736,19726747,19727814,19738422,19744127,19747927,19748889,19764563,19765303,19767770,19775474,19776120,19781633,19787271,19797085,19801633,19801684,19802009,19802016,19805522,19815552,19815839,19816934,19820359,19825827,19833727,19835871,19836430,19850036,19853286,19855431,19864499,19875456,19875696,19878271,19881543,19885574,19885581,19887561,19887570,19889638,19889640,19891769,19898424,19903888,19917135,19920252,19922411,19924282,19925030,19931325,19933775,19935854,19940129,19948975,19956840,19956847,19965664,19966853,20003467,20005908,20008098,20008289,20018888,20018937,20018949,20019839,20022634,20026048,20028853,20030877,20033742,20041238,20042122,20046382,20048146,20053726,20054340,20056178,20072648,20081374,20086095,20086174,20088406,20093341,20101210,20107185,20109457,20127017,20127709,20133737,20154081,20159991,20164223,20164304,20173664,20186503,20190811,20198299,20214684,20216540,20232298,20306497,20308328,20332111,20339081,20346360,20360004,20361981,20362557,20388781,20389136,20407443,20412774,20416077,20421846,20432460,20447721,20453000,20471940,20478633,20488790,20493625,20513428,20520724,20526288,9768361,19882362,19997873,20490331,20541701,20141546,20228224,20530982,20620179,20671123,20844931,19754670,20201953,20372801,20372806,20414143,20731018,20829512,20182617,20307589,20339252,20347887,20410674,20514448,20514451,20516073,20574456,20643654,19897009,19913121,20055757,20110348,20398329,20458733,20523723,20530239,20530554,20555032,20622004,20628086,20947498,18231751,19489223,20536315,20607350,20693286,20697673,19757167,20512574,20566894,20595063,20679348,20921115,16613989,20100200,20186153,20231902,20333297,20361045,20557351,20672329,20725137,20818434 1643334,1643330,1643332,1643333,734957,625444,1643331,2311130,2313763,2313556,2315600,2306432,2291891,2290458,734544,734543,1358369 207 NM_001014431,NM_001014432,NM_005163,NG_012188,A62733,A63232,AF283830,AL583722,AL590327,CH471061,EU332835,AB451242,AB451367,AK094287,AK122894,AK127193,AK131465,AK299310,AK314256,BC000479,BC001737,BC063408,BC084538,BX647722,BX648205,CN414251,CR611982,M63167,X61037 EAW81881,NP_001014431,NP_001014432,NP_005154,CAA03677,CAA03712,AAL55732,EAW81882,EAW81883,ABY87524,BAG70056,BAG70181,BAG53786,BAG54449,BAH12997,BAG36922,AAH00479,AAH01737,AAH84538,AAA36539,CAA43372,P31749,Q9BV07,ACE87663,ACE86973 Hs.525622 AKT|MGC99656|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA RAC-PK-alpha|RAC-alpha serine/threonine-protein kinase|protein kinase B|proto-oncogene c-Akt|rac protein kinase alpha protein-coding 1323832 AKT1S1 AKT1 substrate 1 (proline-rich) AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM] 737633,2308795 14973226,14702039,12524439,12477932,9373149,8125298,16169070,18372248,18215133,17604271,17510057,17386266,17277771,17081983,16344560,16174443,15489334,15324660,15302935 737633,2308795 84335 NM_001098633,NM_032375,AC118341,CH471177,AK055511,AK092610,AK123687,AK226004,AK316603,BC000031,BC007416,NM_001098632,BC015562,BC016043,BC022241,BC051844,CR602166,CR603738,CR604133,CR606632,CR608170,CR608835,CR612202,CR619923,DA005259,DA542314,CR595556 NP_001092102,NP_001092103,NP_115751,EAW52568,EAW52569,EAW52570,EAW52571,BAB70937,BAG52583,BAG38190,AAH00031,AAH07416,AAH15562,AAH16043,AAH51844,Q96B36 Hs.515542 Lobe|MGC2865|PRAS40 40 kDa proline-rich AKT substrate|OTTHUMP00000196756|OTTHUMP00000196760|proline-rich AKT1 substrate 1|proline-rich Akt substrate, 40 kDa protein-coding 732407 AKT2 v-akt murine thymoma viral oncogene homolog 2 This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq] 632179,2313347,2311130,2313406,2313763,2315599,2313297,2313299,2313320,2313405,2313409,2313410,2315600,2315603,2302395,2302397,2313350,2313316,2313408,2306432,2313394,2307342,2290458,2290476,1580863,734545,1601155,734958 20102399,20409325,9512493,9394803,9374542,8622988,3037531,1801921,16841089,16524887,10869418,17157319,15689238,11208609,15616007,16221682,15678105,9528769,17327441,17276404,17012749,16982699,16402276,16365168,15987444,15890450,15557754,15531580,15489334,15166380,15144186,15111130,15102693,15070827,15010337,14973226,14735903,14702039,14699494,14654898,14645242,14637151,14612499,14504284,14500673,12808085,12791994,12733712,12697749,12663464,12545160,12524439,12517798,12517337,12482965,12480711,12477932,12434148,12181350,12176337,12167664,12149249,12114503,12048203,11994280,11988487,11948187,11903042,11781143,11707444,11546794,11507039,11500317,11445557,11432835,11313479,11278835,11156964,11139588,10983986,10491192,9736715,10490823,1409633,16814735,15314020,19197940,19164214,19079138,19075230,19074768,19064572,18996102,18842333,18768676,18660489,18353613,18316591,18281467,18048359,17914025,17908691,17895832,17825284,17804734,17576055,17482291,17372934,17332325,12176997,17030088,17535800,17577629,19110052,19261608,19435822,19453261,19713527,19797172,19825827,19843246,19933843,20018949,20056178,20056908,20059950,20109457,20116920,20133737,20167810,20186503,20354455,20447721,20687898,19913121,20398329,20602615,20628086,20514445,20691427,21048031 632179,2313347,2311130,2313406,2313763,2315599,2313297,2313299,2313320,2313405,2313409,2313410,2315600,2315603,2302395,2302397,2313350,2313316,2313408,2306432,2313394,2307342,2290458,2290476,734545,1601155,734958 208 NM_001626,NG_012038,AC118344,AY708392,CH471126,AK054771,AK055779,AK122839,AK294453,AK304209,AK308006,AK308906,AK314619,BC022779,BC032709,BC040028,BC063421,BC120994,BC120995,BQ219902,CR592991,M77198,M95936 NP_001617,AAT97984,EAW56941,EAW56942,EAW56943,BAG51573,BAG57690,BAH14135,BAG37185,AAH22779,AAH32709,AAH63421,AAI20995,AAI20996,AAA36585,AAA58364,P31751,Q05BV0,Q0VAN0,Q6P4H3,Q8TBE2 Hs.631535 PKBB|PKBBETA|PRKBB|RAC-BETA Murine thymoma viral (v-akt) homolog-2|PKB beta|RAC-PK-beta|RAC-beta serine/threonine-protein kinase|murine thymoma viral (v-akt) oncogene homolog 2|protein kinase Akt-2|protein kinase B beta|rac protein kinase beta protein-coding 735623 AKT3 v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 2313763,2290458,1580863 11322783,11230166,11156964,11076863,10773662,10491192,10419456,10208883,9512493,9394803,9305920,16841089,16524887,10869418,17157319,15689238,11208609,15616007,11466625,11387345,20647317,20102399,12176997,10092583,18813315,18451171,17895832,17668379,17178867,16381901,15987444,15698844,15579468,15543611,15489336,15466193,14702039,14637150,12692267,12663464,12477932,12167664,12162751,11994280,11707444,11489829,19913121,20398329,20628086,19261608,19435822,19626040,19713527,20018949,20031603,20056178,20167810,20186503,20354165,18029348,21048031 2313763,2290458 10000 NM_181690,NM_005465,AC096539,AL591721,AL592151,AL662889,CH471148,AF085234,AF124141,AF135794,AJ245709,AK055109,AK308052,AL117525,AW960221,AY005799,BC020479,BC121154,BG702262 NP_859029,NP_005456,CAH71866,CAH71867,CAH72891,CAH72892,CAH73072,CAH73073,EAW77093,EAW77094,AAL40392,AAD29089,AAD24196,CAB53537,CAB55977,AAF91073,AAH20479,AAI21155,Q56A86,Q9Y243,CAL37669,CAL37727 Hs.498292 DKFZp434N0250|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2 OTTHUMP00000037911|OTTHUMP00000037912|PKB gamma|RAC-gamma serine/threonine protein kinase|RAC-gamma serine/threonine-protein kinase|protein kinase Akt-3|protein kinase B gamma|serine threonine protein kinase, Akt-3|thymoma viral proto-oncogene 3 protein-coding 1322487 AKTIP AKT interacting protein The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq] 20635389,17353931,19270026,18799622,16189514,16169070,15489334,14749367,14702039,12477932,9501314,9383278,9373149,8626685,8125298,17207965,19549727 64400 NM_001012398,NM_022476,AC007342,CH471092,AK023320,AK098222,AK222743,AK303503,AL133106,BC001134,BC095401,BG568989,BI545474,CR457308,CR602186,CR620376 NP_001012398,NP_071921,EAW82803,EAW82804,EAW82805,EAW82806,EAW82807,EAW82808,EAW82809,BAB14524,BAD96463,BAG64536,CAH56392,AAH01134,AAH95401,CAG33589,Q659E0,Q9H8T0,ADQ32518 Hs.380897 FT1|FTS AKT-interacting protein|fused toes homolog|fused toes homolog (mouse)|fused toes protein homolog protein-coding 736545 ALAD aminolevulinate, delta-, dehydratase The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. [provided by RefSeq] 1599013,1599014,1599011,1601156,1580863,1578396,4144806,4144168,4144137,4144142,4144146,4144542,4144150,4144152,4144202,4144163 3463993,3758678,11032836,19548578,19515364,19440429,19327888,19028776,18936436,18795909,18784554,18676680,18569569,18432999,18282196,18271513,17966070,17823382,17649958,17383846,17366816,17291479,17164378,16757504,16730797,16497859,16487505,16445899,16377642,16344560,16263504,16203232,16140629,15954127,15915653,15587989,15489334,15386154,15381398,15258767,15213514,15164053,15064157,14694653,14527840,12972060,12896855,12878157,12665801,12611663,12477932,12469218,11909869,11860952,11800328,11591653,11459423,11444968,11427399,11413692,11335187,10706561,10519994,8188255,7450139,6839527,6378062,3327436,3092810,3036687,2063868,1716854,1678509,1602151,1569184,1156566,19170196,19625176,19686844,19692168,19723536,19766174,19789817,19812033,20021040,20021192,20069172,20123609,20406759,20510440,20798009 1599013,1599014,1599011,1601156,4144806,4144168,4144137,4144142,4144146,4144542,4144150,4144152,4144202,4144163 210 NM_000031,NG_008716,AL137066,AY319481,CH471090,X64467,AA593706,AK131490,AK290490,AK295945,AK312552,AU279870,BC000977,BU625796,BX494400,DA412142,DA805310,M13928,S99468,S99471 NP_000022,CAH70099,CAX14973,CAX14974,CAX14975,AAP72012,EAW87379,EAW87380,CAA45796,BAD18635,BAF83179,BAH12225,BAG35449,AAH00977,AAA51687,AAC60581,AAC60582,P13716,Q6ZMU0 Hs.1227 ALADH|MGC5057|PBGS aminolevulinate, delta-, dehydratase|delta-aminolevulinic acid dehydratase|porphobilinogen synthase protein-coding 68572 ALAS1 aminolevulinate, delta-, synthase 1 Delta-aminolevulinate synthase (ALAS; EC 2.3.1.37) catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2 (MIM 301300).[supplied by OMIM] 1580863,1601233,1300048,1578396,4144542,4144178,4144185,4144834,4145274,4144808 2347585,18719978,17672918,17628775,16730941,15797241,15710391,15547665,15489334,15477213,15123725,12878157,12477932,12433930,11929048,11929042,11566198,8424176,7698013,3671094,2263504,2095458,11267664,19477221,20237496,19913121,20628086,15028279,20877624,21048031 1601233,4144542,4144178,4144185,4144834,4145274,4144808 211 NM_199166,NM_000688,AC097637,CH471055,AB063322,AK293190,AK300993,AK312566,AU279391,AY260745,BC011798,BM546974,BU173391,CD014147,CR590706,CR596499,CR606089,X56351,Y00451 NP_954635,NP_000679,EAW65188,EAW65189,EAW65190,BAB93514,BAG56730,BAG62612,BAG35461,AAP94018,AAH11798,CAA39794,CAA68506,P13196,Q5JAM2 Hs.476308 ALAS|ALAS3|ALASH|MIG4 5-aminolevulinate synthase, nonspecific, mitochondrial|5-aminolevulinic acid synthase 1|ALAS-H|delta-ALA synthase 1|delta-aminolevulinate synthase 1|migration-inducing protein 4 protein-coding 736755 ALAS2 aminolevulinate, delta-, synthase 2 The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1599037,1599038,1580863,1300048,1578396,4144542 14643893,10727444,16234850,2050125,19187226,19066423,18760763,18569569,18555711,16446107,16121195,15772651,15342556,15166166,12663458,12477932,12393718,12031592,10577279,10029606,9858242,9642238,8107717,2347585,2263504,1939222,1577484,1570328,8889548,19731322,546546 1599037,1599038,4144542 212 NM_001037967,NM_000032,NM_001037968,NG_008983,AF068624,AL020991,AY190322,AY532069,AY532070,AY532071,AY532072,AY532073,AY532074,AY532075,AY532076,AY532077,AY532078,AY532079,AY532080,AY532081,AY532082,AY532083,AY532084,AY532086,AY532087,AY532088,AY532089,AY532091,AY532092,AY532093,AY532094,AY532095,AY532096,AY532097,AY532098,AY532099,AY532100,AY532101,AY532102,AY532103,AY532085,AY532104,AY532105,AY532106,AY532107,AY532108,AY532109,CH471154,Z83821,AA778169,AK290565,AK291589,AK313118,BC030230,BM677888,BP233279,BP284609,BQ182291,CR591435,CR593743,CR606333,CR606670,CR608649,CR609889,CR613185,CR615092,CR620984,CR626361,X56352,X60364 NP_001033056,NP_000023,NP_001033057,AAC39838,CAA15886,AAO37821,AAT09371,AAT09372,AAT09373,AAT09374,AAT09375,AAT09376,AAT09377,AAT09378,AAT09379,AAT09380,AAT09381,AAT09382,AAT09383,AAT09384,AAT09385,AAT09386,AAT09387,AAT09388,AAT09389,AAT09390,AAT09391,AAT09393,AAT09394,AAT09395,AAT09396,AAT09397,AAT09398,AAT09399,AAT09400,AAT09401,AAT09402,AAT09403,AAT09404,AAT09405,AAT09406,AAT09407,AAT09408,AAT09409,AAT09410,AAT09411,EAW93211,EAW93212,EAW93213,BAF83254,BAF84278,BAG35939,AAH30230,CAA39795,CAA42916,P22557,Q5JZF5,Q6QNT2,Q86YM3,Q8N6H3,Q9H366 Hs.522666,Hs.555936 ALAS-E|ALASE|ANH1|ASB|FLJ93603|XLDPP|XLSA 5-aminolevulinate synthase, erythroid-specific, mitochondrial|5-aminolevulinic acid synthase 2|aminolevulinic acid synthase 2|delta-ALA synthase 2|delta-ALA synthetase|delta-aminolevulinate synthase 2 protein-coding 735404 ALB albumin Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin. [provided by RefSeq] 1601158,2306884,2306882,2306885,2306886,1599027,1599028,734959,1599033,1580863,1601159,1601157,1601160,2325678,2325680,2325679,2325683,2325675,2325682,2325676,2325677,2325686 20603593,20346571,20471030,16405401,14726550,16169013,16307046,16413734,16413740,10940303,16289007,16413837,9731778,16283771,16099937,16201370,16245148,16394536,16153637,12617161,6457647,7557095,8132774,11159893,14718574,19377253,19318029,19298387,19139584,19011736,18979581,18958405,18791744,18579803,18513410,18474236,18464274,18459107,18386863,18346470,18323672,18287254,18256067,18200583,18200582,18192916,18178096,18068661,18054940,18029235,18028874,17987802,17940721,17603933,17587712,17575979,17499233,17467280,17438360,17347578,17200780,17184834,17109502,17067818,17064838,17054386,17048876,17048273,17002873,16979183,16939204,16916777,16892178,16843720,16721655,16705651,16703327,16608438,16454580,16344560,16337614,16324740,16253963,16213467,16159939,16156788,16037246,15996651,15952740,15942949,15913893,15890566,15837789,15832324,15740590,15716124,15646839,15489334,15353599,15324660,15210122,15149953,15137089,14983239,14759223,14687905,14520007,13677478,12975309,12970360,12969171,12815038,12732844,12665801,12566415,12480711,12477932,12118010,12009306,11931649,11906609,11847277,11810025,11781148,11743713,11743520,11734007,11689002,11680902,11483580,11168369,11158855,11145723,11140838,10811843,10780709,10388840,9618718,9589637,9329347,9183005,8898021,8889549,8513793,8347685,8134387,8064810,8063017,8048949,8022807,7902134,7895732,7882997,7852505,7578225,7297678,6933567,6864486,6324579,6292049,6275391,6192711,6173750,6171778,4062880,4027254,3828358,3795040,3759977,3479777,3474609,3353369,3087352,3081519,3009475,2914956,2911589,2901102,2898383,2792379,2762316,2727704,2564675,2460858,2437111,2419329,2404284,2374930,2339130,2247440,2104980,2068071,1946412,1859851,1819460,1630489,1602151,1518850,1390939,1347703,1225573,955075,683332,656055,571335,325004,8312056,7576927,1810199,12007569,10580404,10086322,8605586,9168236,16169070,15502818,15616580,16054887,15174051,15604093,16329499,17058928,17460892,19212124,19339807,19375269,19450464,19484197,19505594,19520864,19572666,19588173,19601929,19615354,19615732,19664386,19707690,19711930,19733855,19734142,19785033,19883602,19884191,19955769,19996109,20006594,20018855,20025859,20171595,20306030,20211614,20381621,14579113,20215742,20716240,20818804,20705604,20160662 1601158,2306884,2306882,2306885,2306886,1599027,1599028,734959,1599033,1601159,1601157,1601160,2325678,2325680,2325679,2325683,2325675,2325682,2325676,2325677,2325686 213 CR597211,CR597943,CR598093,CR598383,CR598385,CR598603,CR599168,CR599458,CR599721,CR600034,CR600037,CR600791,CR601390,CR601415,CR601553,CR602440,CR602816,CR603329,CR603331,CR603379,CR596914,CR597043,CR603655,CR603842,CR604028,CR604468,CR604471,CR605000,CR605103,CR605340,CR605517,CR605670,CR606186,CR606327,CR606332,CR606409,CR606433,CR606436,CR606456,CR606725,CR607762,CR607982,CR608360,CR608361,CR608483,CR609761,CR610097,CR610411,CR610438,CR611727,CR611846,CR612534,CR612673,CR612742,CR612869,CR613164,CR613537,CR613656,CR614762,CR615003,CR615080,CR615140,CR615141,CR615515,CR615566,CR616077,CR616559,CR617076,CR617086,CR617173,CR617306,CR617317,CR617604,CR617605,CR617809,CR617825,CR617917,CR618745,CR618825,CR618884,CR618985,CR619204,CR619209,CR619440,CR619916,CR620317,CR620357,CR620627,CR621036,CR621037,CR621584,CR621629,CR622690,CR622692,CR623499,CR623708,CR624078,CR624084,CR624085,CR624270,CR624330,CR624773,CR624987,CR625370,CR625426,CR625546,CR626041,CR626274,CR626607,CR626733,CR626747,CR749331,DA536463,DA642320,DQ986150,N53869,V00494,V00495,A06977,NG_009291,AC108157,CH471057,EF649953,M12523,M13075,S69192,S70799,AF190168,NM_000477,AK292755,AK298437,AK298461,AK308044,AK314794,AY358313,AY544124,AY550967,AY728024,AY960291,BC014308,BC034023,BC034026,BC035969,BC036003,BC039235,BC041789,BJ993972,CR590441,CR590559,CR590565,CR590662,CR590860,CR590946,CR591135,CR591316,CR592047,CR592175,CR592642,CR592816,CR593238,CR593239,CR593838,CR593839,CR593996,CR594121,CR594216,CR594507,CR594508,CR594567,CR595087,CR595460,CR596141,CR596272,CR596480,CR596833,CR596880,AF542069,GM662929,CS339763,GN367252,HC484161 CAH18185,ABJ16448,CAA23753,CAA23754,P02768,Q16167,Q56G89,Q8IUK7,CAA00606,ABM82340,ABM85514,NP_000468,EAX05659,EAX05660,EAX05661,EAX05662,EAX05663,EAX05664,EAX05665,EAX05666,EAX05667,EAX05668,EAX05669,EAX05670,EAX05671,EAX05672,EAX05673,EAX05674,EAX05675,EAX05676,EAX05677,EAX05678,ABS29264,AAA98797,AAA98798,AAA51688,AAB30282,AAB31177,AAF01333,AAN17825,BAF85444,BAG60658,BAG60674,BAG37325,AAQ89947,AAT11155,AAT52213,AAU21642,AAX63425,AAH14308,AAH34023,AAH35969,AAH36003,AAH41789,CAL14739,CAV33840,CAY85984,CBL66721 Hs.418167 DKFZp779N1935|PRO0883|PRO0903|PRO1341 OTTHUMP00000220436|OTTHUMP00000220438|OTTHUMP00000220439|cell growth inhibiting protein 42|growth-inhibiting protein 20|serum albumin protein-coding 733283 ALCAM activated leukocyte cell adhesion molecule 734960,1580863 20726988,12754519,9920831,12481253,12477932,11306570,10673383,16712791,20364042,20530423,7760007,19603023,19337990,19322904,19142865,18810438,18483249,18347173,18279810,18202807,18172759,18171982,18157132,17971418,17624664,16865058,16818773,16818742,16650408,16335952,16204050,16024937,15496415,15169840,15140234,14702039,12843199,9502422,9436462,8823162,8520490,7543097,20826154,20929568,16799092,19626493,20180536,20208136,20220571,19913121,20606680,20628086 734960 214 AC023602,AC078806,AC133476,CH471052,AB074167,AK054632,AK095833,AK127617,AK300362,AK301804,AK316113,AL833702,AY644765,BC029639,BC041127,BC057809,BC137096,BC137097,CB145726,DQ486139,DQ486140,L38608,Y10183,NM_001627 Q13740,NP_001618,EAW79755,EAW79756,EAW79757,BAG51401,BAC87059,BAG62102,BAG63255,BAH14484,AAV28819,AAH57809,AAI37097,AAI37098,ABF48405,ABF48406,AAB59499,CAA71256,Q6PEY4,Q6ZS95 Hs.591293 CD166|FLJ38514|MEMD|MGC71733 CD166 antigen|OTTHUMP00000214314|OTTHUMP00000214315|activated leucocyte cell adhesion molecule protein-coding 1350465 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 This gene encodes a member of the aldehyde dehydrogenases superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17353931,16344560,14702039,12477932,9110174,8619474,19184135,19615732 126133 NM_153329,NM_001145396,NG_012747,AC010619,CH471177,AK024182,AK074136,AK297101,AK298587,AK301246,AY007096,BC014895,BC035641,BC042142,CR602601,CR608888,DA629821,DC364604 NP_699160,NP_001138868,EAW52482,EAW52483,EAW52484,BAB84962,BAG59613,BAG60777,BAG62813,AAH14895,AAH35641,AAH42142,Q8IZ83 Hs.719998 MGC10204 aldehyde dehydrogenase family 16 member A1 protein-coding 1350073 ALDH18A1 aldehyde dehydrogenase 18 family, member A1 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq] 1580863 8761662,18478038,18401542,15517380,15489334,15164054,12477932,11092761,10037775,9373149,8921385,8125298,16385451,18029348,19615732,20379614,20819778,20877624,20946940 5832 NM_002860,NM_001017423,NG_012258,AL356632,CH471066,AK126355,AK225455,AK225465,AK226032,AK295487,AK299557,AK312271,AW467503,BC106054,BC117240,BC117242,BC143930,BU170321,CD642171,CR604316,U68758,U76542,X94453 NP_002851,NP_001017423,CAI16765,CAI16766,EAW49994,EAW49995,EAW49996,EAW49997,BAH12086,BAH13064,BAG35201,AAI06055,AAI17241,AAI17243,AAI43931,AAD00169,AAD17454,CAA64224,P54886,ADR83253 Hs.500645 GSAS|MGC117316|P5CS|PYCS aldehyde dehydrogenase family 18 member A1|delta-1-pyrroline-5-carboxylate synthase|delta-1-pyrroline-5-carboxylate synthetase|delta1-pyrroline-5-carboxlate synthetase|pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) protein-coding 736747 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a cytosolic isoform, which has a high affinity for aldehydes. [provided by RefSeq] 1300048,1580863,2325688 20516116,19911270,20596639,1709013,224930,2987944,19478994,19450560,19385968,19343046,19329942,19296407,19129088,19025616,19018242,18854779,18848913,18644979,18496131,18450747,18371393,18343808,18331377,18082256,18029348,17628022,17502835,17286337,17222227,17175089,16878979,16857736,16189514,15597079,15489334,14678778,14506398,12477932,12174908,12081471,9723161,9240474,9166904,8493914,8214422,6723659,6427007,4015823,3676276,3397064,3013004,2776714,2591967,730161,19447584,19696793,19703508,19706361,19774675,19808966,19874574,20010854,20019840,20142235,20379614,20606680,20634891,20585849,20228222,20959469 2325688 216 NM_000689,NG_012249,AL591031,AY338497,CH471089,M31994,S61235,AB209821,AF003341,AK000118,AK026641,AK293176,AK302168,AY390731,BC001505,BG773210,BT006921,CR601139,K03000,M26761,HC025826 Q5SYQ8,Q5SYQ9,ABM81595,ABM84776,NP_000680,CAI12257,CAI12259,CAI12260,CAI12261,AAP88039,EAW62543,EAW62544,AAA51692,AAD13925,BAD93058,AAC51652,BAG56719,BAG63535,AAR92229,AAH01505,AAP35567,AAA51695,AAA35518,P00352,Q59EJ0,Q5SYQ7,CBH19844 Hs.76392 ALDC|ALDH-E1|ALDH1|ALDH11|MGC2318|PUMB1|RALDH1 ALDH class 1|ALHDII|RALDH 1|acetaldehyde dehydrogenase 1|aldehyde dehydrogenase 1, soluble|aldehyde dehydrogenase family 1 member A1|aldehyde dehydrogenase family 1, member a1|aldehyde dehydrogenase, cytosolic|aldehyde dehydrogenase, liver cytosolic|retinal dehydrogenase 1|retinaldehyde dehydrogenase 1 protein-coding 734163 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1576367,1300048,734550,1580863,734961,734962 16166285,16237707,18495959,19478994,19343046,16368932,15489334,14718574,14702039,12477932,11953746,10192400,9819382,8797830,8663198,18029348,19609347,19703508,19886994,20308937,20375987,20379614 1576367,734550,734961,734962 8854 NM_170696,NM_003888,NM_170697,NG_012259,AB015229,AC012653,AC025431,CH471082,DQ322171,AB015226,AB015227,AB015228,AK128709,AK294981,AK303057,AL110274,AL110299,AL137418,BC030589,BI459110,CR601540 NP_733797,NP_003879,NP_733798,BAA34788,EAW77528,EAW77529,EAW77530,ABC40749,BAA34785,BAA34786,BAA34787,BAG54714,BAG58050,BAG64174,CAB53740,AAH30589,O94788,Q9UED3,ABM82494,ABM85686 Hs.643455 MGC26444|RALDH(II)|RALDH2|RALDH2-T RALDH 2|aldehyde dehydrogenase family 1 member A2|aldehyde dehydrogenase family 1, subfamily a2|retinal dehydrogenase 2|retinaldehyde-specific dehydrogenase type 2 protein-coding 1353558 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The enzyme encoded by this gene uses retinal as a substrate, either in a free or cellular retinol-binding protein form. [provided by RefSeq] 1580863 11585737,19478994,19343046,15489334,12477932,12040753,9490025,7698756,20709019,19703508 220 NM_000693,NG_012254,AC015712,CH471101,AK302607,AK303441,AK312303,AL110109,BC009245,BC069274,BX538027,DB480234,U07919 NP_000684,EAX02281,EAX02282,EAX02283,BAG63855,BAG64488,BAG35229,AAH69274,CAD97973,AAA79036,P47895,Q7Z3A2,ACE87384,ACE86700 Hs.459538 ALDH1A6|ALDH6|RALDH3 RALDH-3|acetaldehyde dehydrogenase 6|aldehyde dehydrogenase 6|aldehyde dehydrogenase family 1 member A3|retinaldehyde dehydrogenase 3 protein-coding 1315525 ALDH1B1 aldehyde dehydrogenase 1 family, member B1 This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq] 1580863 7779080,7774944,2061311,18029348,20700531,20734064,20877624,1306115,19343046,18782342,17628022,17471563,15489334,15164053,12477932,9373149,8689400,8244338,8125298,20205700 219 NM_000692,NG_012253,AL135785,CH471071,M63967,AK225950,AK297020,AK313344,BC001619,BE889810,BT007418 NP_000683,CAD13246,EAW58252,AAA96830,BAG59552,BAG36147,AAH01619,AAP36086,P30837,ABM81675,ABW03290 Hs.436219 ALDH5|ALDHX|MGC2230 ALDH class 2|acetaldehyde dehydrogenase 5|aldehyde dehydrogenase 5|aldehyde dehydrogenase X, mitochondrial|aldehyde dehydrogenase family 1 member B1|mitochondrial aldehyde dehydrogenase X protein-coding 1606025 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, NADP, and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family and is responsible for formate oxidation in vivo. Deficiencies in this gene can result in an accumulation of formate and subsequent methanol poisoning. [provided by RefSeq] 19913121,20628086,20634891,10204077,19343046,19161160,19064578,19048631,18830263,18676680,17891500,17548676,17119116,12805405,12477932,12065246,9373149,8125298,7972060,2733692,19170196,19625176,19692168,19851296,19936946,20198315,20453000,20737570,20877624,20729910 10840 NM_012190,NG_012260,AC079848,CH471052,AA639766,AB209299,AF052732,AK124908,AK222535,AK222694,AK294392,AK294530,AK307699,AK308112,AL133015,BC027241,BC045645,BI829048,CR749807 NP_036322,EAW79370,EAW79371,EAW79372,CAH18667,O75891,Q53H87,Q53HP5,Q59G10,Q6ZV71,Q8TBP8,Q9UFA9,ACE87501,ACE87502,ACE86814,ACE86815,AAC35000,BAC85992,BAD96255,BAD96414,BAG57647,BAG57739,BAD92536,CAB61356,AAH27241 Hs.434435 10-fTHF|DKFZp781N0997|FTHFD 10-FTHFDH|10-formyltetrahydrofolate dehydrogenase|OTTHUMP00000155221|OTTHUMP00000222724|aldehyde dehydrogenase family 1 member L1|cytosolic 10-formyltetrahydrofolate dehydrogenase|formyltetrahydrofolate dehydrogenase protein-coding 1345617 ALDH1L2 aldehyde dehydrogenase 1 family, member L2 This gene encodes a protein, which belongs to both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 20498374,14702039,12477932,20877624,19933275,20379614 160428 NM_001034173,NR_027752,NG_012748,AC016257,AC090051,AF086109,AK094088,AK095827,AK300373,BC103934,BC103935,BX537599,CA418450,CR590204,CR627287,CR749561 NP_001029345,BAC04634,BAG62109,AAI03935,AAI03936,CAH10368,CAH18358,Q3SY69,ACE87788,ACT64437 Hs.42572 DKFZp686A16126|DKFZp686M064|DKFZp686P14145|FLJ36769|FLJ38508|MGC119536|MGC119537|mtFDH 10-formyltetrahydrofolate dehydrogenase ALDH1L2|aldehyde dehydrogenase family 1 member L2|mitochondrial 10-formyltetrahydrofolate dehydrogenase|probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2 protein-coding 69220 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. [provided by RefSeq] 1601163,1580863,2311152,734551,1599041,1599042,1331525,1300048,1601161,1601162,1601164,2325694,2325313 19286920,17459359,9309300,19262484,19250143,19230487,19185835,19182438,19164089,19124505,19115622,19096130,19068087,18996923,18974607,18798003,18787502,18786921,18782342,18776700,18773092,18772068,18763293,18724972,18715275,18676680,18665932,18621017,18616675,18540919,18516948,18510611,18450747,18439068,18429959,18336671,18331377,18322963,18318597,18317873,18302046,18299763,18272654,18258609,18254707,18216179,18215653,18201725,18078815,18056758,18033686,17984618,17963305,17952709,17948892,17885622,17854793,17850643,17785925,17659824,17632320,17631643,17559142,17543846,17517051,17489985,17471563,8561277,8290656,8125298,7593603,6582480,4065146,4015823,3653404,3610592,3582651,3562250,3017845,2987944,2838413,2562960,16169070,1306115,8903321,19637400,19618839,19584771,19469618,19456322,19449376,19403456,19393179,19343046,19339270,19336370,19332462,19302089,19298328,19298323,15654505,15569633,15563966,15542751,15519646,15511718,15489334,15377279,15327835,15318112,15318097,15318096,15279067,15242332,15220553,15182962,15167446,15126281,15123334,15122947,15084894,15008789,14768474,14742656,14693654,14691372,14652286,14636437,14634838,14597338,14568296,14506613,14506399,12940444,12915519,12915514,12884000,12824748,12806963,12798968,12777946,12766630,12759747,12759156,12739102,12718671,12718576,12706324,12706323,12705718,12563175,12554615,12545748,12519453,12517056,12505800,12492137,12484509,12477932,12452318,12419833,12387818,12376487,12351924,12223435,12213289,12211622,12198369,12198368,12189549,12173598,12170102,12168074,12164325,12119207,12089173,12082496,12080432,12033531,12010862,11966948,11925062,11798074,11767261,11748356,11744614,11696658,11692094,11600186,11584144,11520401,11510748,11468345,11410744,11410735,11375898,11238183,11210104,11117576,11115843,11051375,10631996,9765594,9373149,17388993,17384900,17292341,17285601,17207821,17196743,17138329,17134659,17071628,17040107,17036331,17033202,16958672,16847426,16822169,16792555,16788276,16782756,16759795,16758956,16734278,16702384,16685648,16679777,16679343,16639733,16624836,16608143,16600530,16565959,16520888,16499490,16440362,16440063,16408483,16404797,16385179,16365683,16351505,16332725,16324524,16309369,16250071,16235983,16187278,16163053,16135443,16127737,16126235,16125912,16108833,16103445,16082583,16078602,16046871,16006997,15991278,15983043,15957670,15957669,15902904,15863807,15842823,15840430,15780035,15734972,15714130,15703303,15679538,17454860,19486361,12795606,19064571,19144977,19170196,19251454,19261511,19452585,19506075,19625176,19641380,19655364,19667493,19692168,19698717,19706845,19751749,19769429,19799139,19819294,19826048,19860798,19861527,19874574,19876063,19906643,19911129,19914339,19948975,20005475,20010786,20025435,20042735,20062057,20077761,20093384,20100738,20101753,20180013,20180859,20205700,20364586,20381070,20403997,20417517,20437850,20467232,20477767,20477771,20488846,20518787,20521872,9195888,20562859,20833657,20139978,19913121,20541757,20577142,20590827,20598484,20628086,20632450,20652463,20685249,20806441,20700531,20877124,20877624,21039630,21070510 1601163,2311152,734551,1599041,1599042,1331525,1601161,1601162,1601164,2325694,2325313 217 NM_000690,NG_012250,AC002996,AC003029,AF164120,CH471054,M20444,M20456,AK223373,AK301375,AK314856,AY621070,BC002967,BC071839,CR456991,CR609508,CR617194,CR618953,CR620819,K03001,M26760,M54931,X05409,Y00109,HC250939,HC311128 NP_000681,AAD48447,EAW97973,EAW97974,EAW97975,EAW97976,AAA51693,BAD97093,BAG62916,AAT41621,AAH02967,AAH71839,CAG33272,AAB59500,AAA51694,AAA62825,CAA28990,CAA68290,P05091,Q53FB6,Q9UN17,CBJ05767,CBJ21219 Hs.632733 ALDH-E2|ALDHI|ALDM|MGC1806 ALDH class 2|acetaldehyde dehydrogenase 2|aldehyde dehydrogenase 2|aldehyde dehydrogenase, mitochondrial|liver mitochondrial ALDH|nucleus-encoded mitochondrial aldehyde dehydrogenase 2 protein-coding 733180 ALDH3A1 aldehyde dehydrogenase 3 family, memberA1 Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863,2300309,1300048 1737758,11256614,19360691,19343046,19058789,19025616,18854779,18621017,18536178,18496131,16344560,15905174,15489334,14745454,14702039,12943535,12706498,12477932,12367788,12081471,10780262,9855707,9514081,9373149,9250352,9027499,8889548,8493892,8125298,7774944,7625577,7228061,4073832,2037078,1905102,1306115,19894643,20056567,20237496,20379614,19696793,20102361 2300309 218 NM_000691,NM_001135167,NM_001135168,NG_012251,AC005722,CH471212,AK091272,AK093755,AK093877,AK225505,AK225513,AK292193,AK314584,BC004102,BC004370,BC008892,BC021194,BM979497,BT007102,CV575863,DA427150,DA445491,M74542,M77477,S61044 NP_000682,NP_001128639,NP_001128640,EAW50908,EAW50909,BAG52758,BAC04239,BAF84882,BAG37160,AAH04102,AAH04370,AAH08892,AAH21194,AAP35766,AAA51696,AAB46377,AAB26658,P30838,Q6PKA6,Q8N9T9,ABM83914 Hs.531682 ALDH3|ALDHIII|MGC10406 OTTHUMP00000065797|aldehyde dehydrogenase isozyme 3|aldehyde dehydrogenase type III|aldehyde dehydrogenase, dimeric NADP-preferring|stomach aldehyde dehydrogenase protein-coding 737085 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300048,1580863 8528251,19343046,18519826,18035827,17998529,17971613,17902024,17510064,16996289,9027499,7894487,7485163,16794583,15931689,15489334,15241804,15110319,14702039,12477932,11408337,10792573,10577908,9829906,9467812,9254849,9204959,9070922,19615732,20237496,20677014,20877624 224 NM_000382,NM_001031806,NG_007095,AC005722,AC115989,CH471212,U75286,U75295,U75296,AB208894,AK000858,AK025677,AK123877,AK292381,AK315096,BC002430,BG699030,CR457422,CR591336,CR749559,L47162,U46689 NP_000373,NP_001026976,EAW50898,EAW50899,EAW50900,AAC50966,AAC50965,BAD92131,BAF85070,BAG37560,AAH02430,CAG33703,CAH18356,AAB01003,AAC51121,P51648,Q59H65,Q68D64,Q6I9T3,ABM86806,ABW03828 Hs.499886 ALDH10|DKFZp686E23276|FALDH|FLJ20851|SLS OTTHUMP00000065801|aldehyde dehydrogenase 10|aldehyde dehydrogenase family 3 member A2|aldehyde dehydrogenase family 3, subfamily a2|fatty aldehyde dehydrogenase|microsomal aldehyde dehydrogenase protein-coding 1349903 ALDH3B1 aldehyde dehydrogenase 3 family, member B1 The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding exons. The gene is highly expressed in kidney and lung. The functional significance of this gene as well as the cellular localization of its product are presently unknown. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7828891,19343046,19159868,17382292,16092759,15489334,14702039,12477932,9490025,9161417,20237496,20729348 221 NM_001030010,NM_001161473,NG_012282,AC004923,CH471076,AB209651,AK092029,AK291505,BC002553,BC013584,NM_000694,BC014168,BC019911,BC033099,BM561843,BT009832,EF411198,U10868 NP_000685,NP_001025181,NP_001154945,EAW74678,EAW74679,EAW74680,EAW74681,EAW74682,EAW74683,BAD92888,BAF84194,AAH02553,AAH13584,AAH14168,AAH33099,AAP88834,ABN58743,AAA83428,P43353,Q59F10,Q9BUJ8,ABM82378,ABM85557 Hs.523841 ALDH4|ALDH7|FLJ26433|FLJ34710 aldehyde dehydrogenase 3B1|aldehyde dehydrogenase 7|aldehyde dehydrogenase family 3 member B1 protein-coding 1318187 ALDH3B2 aldehyde dehydrogenase 3 family, member B2 This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. The expression of these transcripts is restricted to the salivary gland among the human tissues examined. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 1580863 8890755,19343046,15489334,15342556,14702039,12477932,10737800,9161417,7484374,20237496 222 NM_001031615,NM_000695,NG_012255,AP003385,CH471076,AK092464,AK299956,AK309277,BC007685,BG009508,BP313753,BT006810 NP_001026786,NP_000686,EAW74665,BAC03897,BAG61783,AAH07685,AAP35456,P48448,ABM92158,ABM84628 Hs.87539 ALDH8 acetaldehyde dehydrogenase 8|aldehyde dehydrogenase 8|aldehyde dehydrogenase family 3 member B2 protein-coding 1346272 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 8621661,16710414,16341674,15489334,14986171,12477932,9700195,9373149,8125298,4851275,1286669,500817,14679154,19898482,20453000,20877624 8659 NM_003748,NM_170726,NM_001161504,NG_012283,AL080251,AL954340,BX537160,CH471134,AK222486,AK289972,AK294552,BC007581,BC023600,BM856369,BX649081,DC318624,U24266,U24267,FJ462711 NP_003739,NP_733844,NP_001154976,CAI23417,CAI23418,CAI39492,CAI39493,CAI39494,EAW94858,EAW94859,EAW94860,BAD96206,BAF82661,BAG57755,AAH07581,AAH23600,AAC50500,AAC50501,P30038,Q5TF55,ABM84431,ABM87488,ACN89883 Hs.77448 ALDH4|DKFZp779M035|P5CD|P5CDh P5C dehydrogenase|aldehyde dehydrogenase family 4 member A1|delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial|mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase protein-coding 735245 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 632258,1580863 16199352,9683595,7814412,15037717,19343046,19300440,19086053,18505418,17913586,17457693,16786440,16406321,15642443,15489334,14981524,20877624,14635103,14574404,12629812,12477932,12208142,11901270,11243727,9059628,6470007,20659789,19667317,20201926,20379614,20363598 632258 7915 NM_170740,NM_001080,NG_008161,AL031230,CH471087,X92753,AJ427353,AJ427354,AJ427355,AK025722,AK290800,AK294699,AK314357,AK315380,BC034321,L34820,Y11192 NP_733936,NP_001071,CAA20248,EAW55452,EAW55453,EAW55454,CAD20882,CAD20883,CAD20884,BAF83489,BAG57857,BAG37773,AAH34321,AAA67057,CAA72076,P51649,Q546H9,Q8N3W6,Q8N3W7,ABM82597,ABM85783 Hs.371723 SSADH|SSDH NAD(+)-dependent succinic semialdehyde dehydrogenase|OTTHUMP00000214394|aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)|aldehyde dehydrogenase family 5 member A1|aldehyde dehydrogenase family 5, subfamily a1|mitochondrial succinate semialdehyde dehydrogenase|succinate-semialdehyde dehydrogenase, mitochondrial protein-coding 1344188 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. [provided by RefSeq] 633220,1580863 1527093,19343046,15909363,15489334,14718574,12477932,10947204,9373149,8125298,20585627,20379614,18029348,20877624 633220 4329 NM_005589,NG_012257,AC005484,AF148855,CH471061,AF038011,AF148505,AF159889,AJ249994,AK222687,AK223244,AK294243,AK311478,AK312389,AW418653,BC004909,BC032371,CR613362,M93405,XR_110223,XR_111458,XR_114763 NP_005580,AAG29581,EAW81158,EAW81159,EAW81160,AAB92620,AAF04489,AAF80380,CAB76468,BAD96407,BAD96964,BAG57539,BAG35306,AAH04909,AAH32371,AAA36328,O43573,Q02252,Q53FN8,Q53H94,ABM83847,ABM84606,ABW03530 Hs.293970 MGC40271|MMSADHA|MMSDH aldehyde dehydrogenase family 6 member A1|malonate-semialdehyde dehydrogenase|methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial|mitochondrial acylating methylmalonate-semialdehyde dehydrogenase protein-coding 1318489 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 Antiquitin is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride. Four additional human antiquitin-like sequences, all of which are pseudogenes, have also been identified. [provided by RefSeq] 1580863 20562859,20207735,20639122,9417906,19294602,18854520,18717709,17721876,17433748,17088338,17068770,16491085,16344560,16159904,15489334,14702039,12766061,12477932,10978228,8088832,16169070,19128417,19142996,19885858,20072603,20512086,20814824,20877624 501 NM_001182,NG_008600,AC093535,AC099513,AF002696,CH471086,AK021800,AK092507,AK295526,AK297365,AK312459,AU135961,BC002515,BC071712,BC073174,CD678674,CR592154,CR595547,CR597044,CR597705,CR598983,CR599362,CR599602,CR602857,CR608879,CR609868,CR610995,CR611205,CR616518,CR617093,CR622161,DC375277,S74728,AI039375,AK123774,BG680326,BU153725,DB501575,NM_001201377,NM_001202404,XM_003120470,XM_003120471,XM_003120472,XM_003120473,XM_003120474,XM_003120475,XM_003120476,XM_003120477,XM_003120478 NP_001173,AAC51935,EAW48851,BAG58439,BAG59812,BAG35366,AAH02515,AAH71712,AAH73174,AAB31966,P49419,ACE87275,ACE86594,NP_001188306,NP_001189333,XP_003120518,XP_003120519,XP_003120520,XP_003120521,XP_003120522,XP_003120523,XP_003120524,XP_003120525,XP_003120526 Hs.483239,Hs.587300 ATQ1|EPD|FLJ11738|FLJ92814|PDE 26g turgor protein homolog|P6c dehydrogenase|aldehyde dehydrogenase family 7 member A1|alpha-AASA dehydrogenase|alpha-aminoadipic semialdehyde dehydrogenase|antiquitin 1|antiquitin-1|betaine aldehyde dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenease protein-coding 1352783 ALDH7A1P1 aldehyde dehydrogenase 7 family, member A1 pseudogene 1 16004729,9417906 541 NG_001082,AC022414,AF002693 ATQL1 antiquitin-like 1 pseudo 1319646 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 11007799,19343046,12477932,9373149,8125298,16344560 64577 NM_170771,NM_022568,NG_012261,AL021939,AL445190,CH471051,AF303134,AK074266,AK222848,AK290784,AK298325,BC020849,BC113862,BC114473,BX647324,BF590409,DA635162,NM_001193480 NP_739577,NP_072090,CAI20305,CAI20306,CAI95158,CAI95159,EAW47985,EAW47986,AAG42417,BAD96568,BAF83473,BAH12757,AAI13863,AAI14474,Q9H2A2,NP_001180409 Hs.486520 ALDH12|DJ352A20.2|DKFZp779D2315|MGC138650 OTTHUMP00000017250|OTTHUMP00000017251|aldehyde dehydogenase 8 family, member A1|aldehyde dehydrogenase 12|aldehyde dehydrogenase family 8 member A1|aldehyde dehydrogenase family protein protein-coding 68603 ALDH9A1 aldehyde dehydrogenase 9 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq] 1300048,1580863 8112751,2925663,8645224,18029348,19343046,19064610,18334916,16710414,12477932,11790142,10702312,9417993,8786138,8269919,19536175,19615732,20379614,20562859,20877624 223 NG_012256,AL451074,CH471067,AF172093,AK293520,AK301767,AK302183,AK302191,AK302654,AK312751,BC011410,BC070030,BC151140,BC151141,CR615650,CR625299,U34252,U50203,NM_000696,X75425 NP_000687,CAH74061,EAW90758,AAF43600,BAG57002,BAG63226,BAG63549,BAG63554,BAG63893,BAG35618,AAI51141,AAI51142,AAB18827,AAB06721,CAA53176,P49189 Hs.2533 ALDH4|ALDH7|ALDH9|E3|TMABADH 4-trimethylaminobutyraldehyde dehydrogenase|R-aminobutyraldehyde dehydrogenase|aldehyde dehydrogenase (NAD+)|aldehyde dehydrogenase E3 isozyme|aldehyde dehydrogenase family 9 member A1|gamma-aminobutyraldehyde dehydrogenase protein-coding 735815 ALDOA aldolase A, fructose-bisphosphate This gene product, Aldolase A (fructose-bisphosphate aldolase) is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants which encode the same protein. [provided by RefSeq] 1580863,2302796,1599054,1599061,1300048,2325696 20362419,16712791,20029029,1008835,10048322,14766013,17329259,14615364,9244396,17641064,19242545,18328256,18278581,18214967,18029348,17081983,16916647,16344560,16289162,16236267,16097034,15952740,15592455,15489334,15231747,14760703,14669989,12665801,12477932,11876650,11399750,11287212,10369770,8598869,8103323,7821789,6696436,6406231,3840020,3674018,3570299,3441006,3391172,3355497,3046960,3030757,2825199,2335208,2229018,2065091,2056525,1999195,1602151,1353685,955981,844801,766744,14499622,19615732,19741270,20181627,20381070,20511553 2302796,1599054,1599061,2325696 226 CR602606,CR603228,CR603376,CR603458,CR604016,CR604188,CR604579,CR604738,CR604987,CR605203,CR605889,CR606828,CR607636,CR608182,CR608270,CR609612,CR609790,CR609848,CR610297,CR610948,CR612423,CR613285,CR614159,CR614487,CR615267,CR615451,CR615901,CR616711,CR617387,CR619926,CR620269,CR620329,CR620452,CR620834,CR620913,CR621054,CR621249,CR618398,CR622016,CR622195,CR622303,CR622309,CR622931,CR623675,CR624362,CR624465,CR624525,CR625362,CR625748,D28356,DA893541,EF036496,EF036497,M11560,M21190,NM_184043,NM_001127617,NM_184041,NG_008010,AC093512,CH471238,X06352,X12447,AK026577,AK098778,AK301993,NM_000034,AK308748,BC000367,BC004333,BC010660,BC012880,BC013614,BC015888,BC016170,BC016800,BE893518,BQ719865,BX647566,CB151262,CR536528,CR541880,CR590144,CR590693,CR591029,CR591040,CR591114,CR591320,CR592194,CR592372,CR592901,CR593461,CR593844,CR595043,CR595415,CR596108,CR596168,CR597349,CR598401,CR598685,CR599451,CR600065,CR600430,CR600497,CR601483,CR601868,AK308495,X05236 BAA05722,ABO65082,ABO65083,AAA51690,NP_000025,NP_908932,NP_001121089,NP_908930,EAW79933,EAW79934,EAW79935,EAW79936,CAA29654,CAA30979,BAG63399,AAH00367,AAH04333,AAH10660,AAH12880,AAH13614,AAH15888,AAH16170,AAH16800,CAG38765,CAG46678,CAA28861,AAA51697,P04075,ABM81991,ABM85172 Hs.513490 ALDA|GSD12|MGC10942|MGC17716|MGC17767 OTTHUMP00000162984|aldolase a|fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A|lung cancer antigen NY-LU-1|muscle-type aldolase protein-coding 1343752 ALDOAP1 aldolase A, fructose-bisphosphate pseudogene 1 3674018 391538 NG_004867,AC006252,AC097637 pseudo 1345484 ALDOAP2 aldolase A, fructose-bisphosphate pseudogene 2 3674018,2828224 228 NG_005637,AL158835,M21191 Hs.652473 pseudo 737371 ALDOB aldolase B, fructose-bisphosphate Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq] 2313432,2313434,2313440,2313414,1599639,2313429,2302804,2302796,2313437,1300369,1599063,1580863 20162364,2410860,2336380,1967768,17576770,9244396,10625657,18000879,18029348,18700007,18541450,17955389,17457694,17292585,16406649,15880727,15532022,15063762,14966907,12477932,12464284,12417303,12205126,11752456,11679716,11399750,11241348,10970798,10024431,8535439,8299883,8162030,7717389,6689266,6585824,6548561,3383242,3016456,3000275,2830249,2649152,19817957,20033295 2313432,2313434,2313440,2313414,1599639,2313429,2302804,2302796,2313437,1300369,1599063 229 NM_000035,NG_012387,AL353621,CH471105,D00183,M15656,AK026411,AK290795,AV645373,AV656265,AW242415,BC029399,BG616536,CR600199,CR601412,CR604271,CR605801,CR606411,CR613920,CR617866,CR626275,X00270,X01098,X02747 NP_000026,CAI14614,CAI14615,EAW58951,EAW58952,BAA00125,AAA51691,BAF83484,AAH29399,CAA25072,CAA25572,CAA26526,P05062,Q8NHT3 Hs.530274 ALDB|ALDO2 OTTHUMP00000021804|aldolase 2|aldolase B, fructose-bisphosphatase|fructose-bisphosphate aldolase B|liver-type aldolase protein-coding 69125 ALDOC aldolase C, fructose-bisphosphate This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq] 1580863,2301132,2301133,2301134,2301136,734555,1300048 19405953,19110265,19034380,16916647,15589842,15537755,15489334,12477932,11876650,9110174,8619474,5230152,3674018,3267224,2731939,2209624,11399750,9244396,3105602,19686046,20381070 2301132,2301133,2301134,2301136,734555 230 NM_005165,AC005726,CH471159,X05196,X07292,AF054987,AK293453,AK293623,AK293693,AK294091,AK294157,AK296039,AK296053,AK312281,BC003613,BC065565,BC103760,BC106925,BC106926,BF345067,BT007006,CR541862,CR541881,CR596423,CR597512,CR598911,CR599491,CR599934,CR601362,CR601660,CR605176,CR607130,CR607349,CR607475,CR607848,CR608784,CR610173,CR610301,CR610835,CR611327,CR615116,CR622257,CR623048,CR625938,HI574194 NP_005156,EAW51104,EAW51105,CAA28825,CAA30270,AAC09348,BAH11512,BAH11551,BAH11572,BAH11668,BAH11685,BAH12243,BAH12245,BAG35210,AAH03613,AAH65565,AAI03761,AAI06926,AAI06927,AAP35652,CAG46660,CAG46679,P09972,CBX47586 Hs.155247 ALDC OTTHUMP00000163437|aldolase 3|aldolase c, fructose-biphosphate|brain-type aldolase|fructoaldolase C|fructose-1,6-biphosphate triosephosphate lyase|fructose-bisphosphate aldolase C protein-coding 1343915 ALDRL2 aldehyde reductase (aldose reductase)-like 2 8244370 233 1344311 ALFN1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) 7940018 237 X15584 1321758 ALG1 asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq] 10704531,16344560,16303743,15489334,14973782,14973778,14709599,12975309,12477932,20379614 56052 NM_019109,NG_009202,AC026458,CH471112,CS051167,AA810665,AB019038,AK075373,AK298144,AK311475,AY359073,BC004402,BC031095,BC031873,BM767933,BQ002699,CA455103,CD366777,CR592042,CR597195,CR619322,CR624559,DA879477 NP_061982,EAW85240,EAW85241,CAI72079,BAA90748,BAC11576,BAG60420,AAQ89432,AAH04402,AAH31095,Q9BT22,ABM85936,ABW03760 Hs.592086 CDG1K|HMAT1|HMT-1|HMT1 GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase|GDP-mannose-dolichol diphosphochitobiose mannosyltransferase|MT-1|asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation protein 1 homolog|beta-1,4 mannosyltransferase|beta-1,4-mannosyltransferase|chitobiosyldiphosphodolichol beta-mannosyltransferase|hMat-1|mannosyltransferase-1 protein-coding 1345350 ALG10 asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) 15489334,14702039,14525949,12477932,12200473,9722534,9597543,17903297,19204726 84920 NM_032834,AC046130,CH471116,AJ312278,AK027657,AK292488,BC022336,BC033730,BC070347,BC075807,BC090948,CR600259,CR623610,W05355,NG_016389 NP_116223,EAW88508,CAC41349,BAB55272,BAF85177,AAH70347,AAH90948,Q5BKT4,ABM82982,ABM86176 Hs.727708 DIE2|FLJ14751|KCR1 alpha-1,2-glucosyltransferase ALG10-A|alpha-2-glucosyltransferase ALG10-A|alpha2-glucosyltransferase|asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase)|asparagine-linked glycosylation protein 10 homolog A|derepression of ITR1 expression 2 homolog|potassium channel regulator 1 protein-coding 1344377 ALG10B asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) 16344560,15280551,14702039,14525949,12477932,19483685 144245 CH471111,AK123102,AK307955,AY845858,BC137413,BC137414,BQ024224,DB224774,DB254106,NM_001013620,AC117372,CR622214 EAW57795,AAW31756,AAI37414,AAI37415,Q5I7T1,NP_001013642 Hs.259305 ALG10|KCR1 alpha-2-glucosyltransferase ALG10-B|asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase)|asparagine-linked glycosylation protein 10 homolog B|modifier of the HERG potassium channel|potassium channel regulator 1|putative alpha-1,2-glucosyltransferase ALG10-B protein-coding 1604899 ALG11 asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) 17353931,16354793,12477932,20080937,15342556 440138 HH961780,NM_001004127,AL139082,AK025456,AK128503,AK296747,BC010857,BC073862,BC111022,BC142998,CR602797,BC108677,DC366525,NR_036571,NG_028038,BP373026 CBX51363,NP_001004127,CAI12889,CAI12890,BAG59331,AAH10857,AAH73862,AAI11023,AAI42999,Q2TAA5,AAI43060,AAI50317 Hs.512963 CDG1P|GT8|KIAA0266|UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C|asparagine-linked glycosylation protein 11 homolog protein-coding 1312492 ALG12 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq] 12217961,15498874,15489334,15461802,15273506,15272470,12736397,12477932,12093361,11983712,10591208 79087 NM_024105,NG_008927,AL671710,CH471138,AF258571,AF318343,AJ290427,AJ303120,BC001729,BC098562,BM145575,CB858085,CR456369 NP_077010,CAO72064,EAW73480,EAW73481,EAW73482,AAG23774,AAL55850,CAC83681,CAC67488,AAH01729,AAH98562,CAG30255,Q8WY77,Q9BV10,CAK54650,CAK54949,ABM83756,ABM87075 Hs.526711 CDG1G|ECM39|MGC111358|MGC3136|PP14673|hALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation protein 12 homolog|dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase|dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase|mannosyltransferase ALG12 homolog|membrane protein SB87 protein-coding 1348986 ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 737633,1580863 16100110,15772651,15489334,12477932,8218172,2649653,2341393,2283726 737633 55849 NM_018466,AL096764,CH471120,AF220051,BC005336,CR604429 NP_060936,EAX02634,EAX02635,EAX02636,EAX02637,AAF67644,AAH05336,Q9NP73 Hs.659791 CXorf45|GLT28D1|MDS031|YGL047W protein-coding 1604512 ALG14 asparagine-linked glycosylation 14 homolog (S. cerevisiae) 16100110,15615718,15489334,12477932,17686769 199857 NM_144988,AC095033,AC105942,BX322578,CH471097,AK289395,BC011706 NP_659425,EAW73026,EAW73027,BAF82084,AAH11706,Q96F25 Hs.408927 MGC19780 UDP-N-acetylglucosamine transferase subunit ALG14 homolog protein-coding 1605265 ALG1L asparagine-linked glycosylation 1-like 12477932 200810 BI085096,CD685738,NM_001195223,AC092903,CH471052,BC073816,NM_001015050 NP_001182152,EAW79378,EAW79379,EAW79380,EAW79381,NP_001015050,AAH73816,Q6GMV1,ADR82727 Hs.591299 ALG1L1 asparagine-linked glycosylation 1-like 1|beta-1,4-mannosyltransferase-like|putative glycosyltransferase ALG1-like protein-coding 3378598 ALG1L2 asparagine-linked glycosylation 1-like 2 12477932 644974 AC083906,BI833803,CH471052,NM_001136152 C9J202,EAW79228,NP_001129624 Hs.722197 beta-1,4 mannosyltransferase-like|putative glycosyltransferase ALG1L2 protein-coding 1320554 ALG2 asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq] 12684507,14999017,11883939,12445460,16957052,17045351,17196169,11278427,16996505,19383317,19013425,18936101,17889823,16344560,16303743,15489334,15273506,15272470,15164053,14702039,12975309,12477932,16004603,12804766,20691033,19520058 85365 AK075172,AK075189,AY358697,BC015126,BC017876,DA076693,DB019023,NR_024532,NG_008928,AL137067,CH471105,CQ782967,CQ783609,AA017454,AB161356,AK027417,AK027814,AK074704,AK074988,NM_033087 BAC11449,AAQ89060,AAH17876,Q9H553,ABM82915,ABM86105,NP_149078,CAC07999,EAW58908,EAW58909,EAW58910,EAW58911,CAF86196,CAF86774,BAD11905,BAB55099,BAG51380,BAC11150,BAC11337 Hs.40919 CDGIi|FLJ14511|NET38|hALPG2 GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase|alpha-1,3-mannosyltransferase ALG2|asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation protein 2 homolog|homolog of yeast ALG2 protein-coding 1314369 ALG3 asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10581255,16006436,15489334,15273506,15272470,15108280,12477932,8552211,1058125 10195 BX339649,CR592328,CR593059,CR594345,CR596636,CR601384,CR603692,CR603947,CR611890,CR616285,CR619480,CR620598,CR620912,CX761434,Y09022,NR_024533,NM_005787,NR_024534,NG_008924,AC061705,CH471052,AK289361,AK297701,AK299575,AW297350,BC002839,BC004313,BC021062,BM920198,NM_001006941,HC894865 CAA70220,Q92685,ABM84086,ABM87455,NP_001006942,NP_005778,EAW78282,EAW78283,BAF82050,BAG60059,BAG61512,AAH02839,AAH04313,CBN61874 Hs.478481 CDG1D|CDGS4|D16Ertd36e|NOT56L|Not56 Not56-like protein|OTTHUMP00000210706|OTTHUMP00000210710|asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation protein 3 homolog|carbohydrate deficient glycoprotein syndrome type IV|dol-P-Man dependent alpha(1-3)-mannosyltransferase|dol-P-Man-dependent alpha(1-3)-mannosyltransferase|dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase|dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase protein-coding 1318934 ALG5 asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10359825,15489334,15342556,12477932,11042152,8889548 29880 NM_013338,NM_001142364,AL138706,CH471075,AF088028,AF102850,AF161498,AF183413,AI027225,AK299085,AK299126,BC012531,BF668393,BG482604,BP246765,BU739112,CB988638,CR625593 NP_037470,NP_001135836,CAI14011,EAX08577,EAX08578,AAD41465,AAF29113,AAG09682,BAG61149,BAG61179,AAH12531,Q9HC03,Q9Y673 Hs.507769 RP11-421P11.2|bA421P11.2 Alg5, S. cerevisiae, homolog of|asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation protein 5 homolog|dolP-glucosyltransferase|dolichyl phosphate glucosyltransferase|dolichyl-phosphate beta-glucosyltransferase protein-coding 1318803 ALG6 asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq] 1580863 10359825,11106564,16710414,16321363,15489334,14702039,14517965,12878157,12477932,12357336,12200473,11875054,11558905,11134235,10924277,10914684,9789065,9710431 29929 NG_008925,AL049636,AL592218,CH471059,AF063604,AF102851,AI479334,AK022700,AK295286,AU280221,BC001253,BI819904,CB215801,CR602025,CR618543,NM_013339 NP_037471,CAI22829,CAI18961,EAX06571,EAX06572,EAX06573,EAX06574,AAG43163,AAD41466,BAG51104,BAG58270,AAH01253,Q9Y672 Hs.258501 CDG1C Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase|OTTHUMP00000161018|asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation protein 6 homolog|dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase|dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase|dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase protein-coding 1313512 ALG8 asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 12200473,12480927,16344560,16303743,15489334,15273506,15272470,15235028,14702039,12477932,11124703,7566098,19648040,20379614 79053 CR595136,CR599637,CR607665,CR618228,CR620133,CR621003,CR623474,DB362104,BC017892,NM_024079,NM_001007027,NG_008926,AP002520,CH471076,AA375954,AJ224875,AK075184,AK075194,AK098614,AK125912,AK309050,BC001133 Q9BVK2,ACE87135,NP_076984,NP_001007028,EAW75048,EAW75049,EAW75050,EAW75051,CAA12176,BAG52080,AAH01133 Hs.503368 CDG1H|MGC2840 HUSSY-02|asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation protein 8 homolog|dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase|dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase|dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase|probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase protein-coding 1342764 ALG9 asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16859551,16381901,16344560,15945070,15489336,15489334,15148656,14702039,12477932,12030331,11230166,11076863,9373149,8125298,14519663,19451548 79796 NM_024740,NM_001077690,NM_001077691,NM_001077692,NG_009210,AP001781,CH471065,AB096249,AF395532,AF454937,AK025498,AK172828,AK225261,AK298811,AK302630,AK308025,AL136927,BC009255,CR605278,DA257621 NP_079016,NP_001071158,NP_001071159,NP_001071160,EAW67152,EAW67153,EAW67154,EAW67155,EAW67157,EAW67158,EAW67159,AAL25798,AAP97696,BAB15154,BAD18793,BAG60945,BAG63872,CAB66861,AAH09255,Q9H6U8,CAL37889,CAL38056,ABM83687,ABM86990 Hs.727751 CDG1L|DIBD1|DKFZp586M2420|FLJ21845|LOH11CR1J alpha-1,2-mannosyltransferase ALG9|asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)|asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)|asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase)|asparagine-linked glycosylation protein 9 homolog|disrupted in bipolar affective disorder 1|disrupted in bipolar disorder protein 1|loss of heterozygosity, 11, chromosomal region 1 gene J product protein-coding 1353820 ALK anaplastic lymphoma receptor tyrosine kinase The 2;5 chromosomal translocation is frequently associated with anaplastic large cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2, is fused to the 5' portion of NPM from chromosome 5. A recent study shows that the product of the NPM-ALK fusion gene is oncogenic. The deduced amino acid sequences reveal that ALK is a novel receptor protein-tyrosine kinase having a putative transmembrane domain and an extracellular domain. These sequences are absent in the product of the transforming NPM-ALK gene. ALK shows the greatest sequence similarity to LTK (leukocyte tyrosine kinase). ALK plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. [provided by RefSeq] 1600902,1580863 18974134,19167335,9053841,9174053,11121404,19506219,19459784,19423729,19386350,19305144,19286999,19135051,19074885,18990089,18923525,18923524,18923523,18845790,18724359,18660380,18615104,18594010,18593892,18458503,18451166,18414414,18320074,18242762,18220322,18166835,18165268,18097461,18083107,18070884,17998938,17922009,17904822,17690253,17681947,17537995,17490616,17274988,17077326,17071493,16880530,16878150,16835382,16825495,16766651,16709933,16651537,16623783,16604305,16565220,16254137,16161041,16153455,15938644,15933425,15928040,15886198,15713979,15592455,15583856,15226403,15161657,15004538,14962911,14656879,14563642,12800156,12763927,12213716,12185581,12122009,12115586,12112524,12036886,11943732,11888936,11877285,11850821,11809760,11387242,11278720,10556217,9819383,9490693,8633037,8122112,18927303,20731666,20970119,21070126,19887368,20805506,20428197,20424160,20695522,20554525,19131589,20632993,10641597,14968112,18549625,18677384,18788887,19147828,19176054,19250532,19531656,19535344,19589272,19636007,19656549,19656550,19667264,19671850,19717436,19723661,19737969,19834503,20009909,20101209,20169312,20185586,20379614,16344560,19383809,21030459,20621063,20624322,20719933,20098747,20393185,20934803,21129606,21164297,20451371 1600902 238 NM_004304,NG_009445,AC074096,AC093756,AC098874,AC106870,AC106899,CH471053,AB209477,AB374361,AB374362,AK296218,EU788003,EU788004,EU788005,EU788006,EU788007,EU788008,EU788009,EU788010,U62540,U66559,GU128152,GU128153,GU128154,GU128155,GU128156,GU128157,DA455128,GM868985 NP_004295,AAY15027,AAX88892,AAX76514,AAX93126,EAX00506,EAX00507,EAX00508,BAD92714,BAG55003,BAG55004,BAG58942,ACI47591,ACI47592,ACI47593,ACI47594,ACI47595,ACI47596,ACI47597,ACI47598,AAB71619,AAC51104,Q580I3,Q9UM73,AAI56208,AAI57091,ACY79560,ACY79561,ACY79562,ACY79563,ACY79564,ACY79565,CAT16962 Hs.654469 CD246|NBLST3|TFG/ALK ALK tyrosine kinase receptor|CD246 antigen|anaplastic lymphoma kinase|anaplastic lymphoma kinase (ki-1) protein-coding 1318033 ALKBH1 alkB, alkylation repair homolog 1 (E. coli) This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq] 1580863 8600462,18603530,15489334,12594517,12508121,12477932,19959401 8846 NM_006020,AC008044,CH471061,BC015024,BC025787,BX537699,CR604550,X91992 Q5XKL0,NP_006011,AAF01478,EAW81300,EAW81301,EAW81302,AAH15024,AAH25787,CAA63047,Q13686,ABM92160,ABM84629 Hs.94542 ABH|ABH1|ALKBH|alkB|hABH DNA lyase ABH1|alkb, alkylation repair homolog (e. coli)|alkylated DNA repair protein alkB homolog 1|alkylation repair, alkB homolog|alpha-ketoglutarate-dependent dioxygenase ABH1 protein-coding 1605008 ALKBH2 alkB, alkylation repair homolog 2 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM] 12486230,18519673,18432238,18270339,16344560,16341674,16174769,15489334,15146197,12594517,12477932,20661249,18775698,19290481,20042601,20714506,17207965,20525795 121642 NR_026931,NM_001001655,NR_026930,NM_001145375,AC011596,CH471054,CQ786763,AB277859,AI278638,AK309062,AY754389,BC070489,BM785502,BM790974,BM820131,BU623121,CN421655,CR597009,CR601252,CR623288,NM_001145374,DA182735 NP_001138846,NP_001001655,NP_001138847,EAW97845,CAG17897,BAF56576,AAV28301,AAH70489,Q6NS38,ADQ32022 Hs.374458 ABH2|FLJ99103|MGC90512 2OG-Fe(II) oxy DC1|alkylated DNA repair protein alkB homolog 2|alpha-ketoglutarate-dependent dioxygenase alkB homolog 2|oxy DC1 protein-coding 1606677 ALKBH3 alkB, alkylation repair homolog 3 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM] 18029348,20970119,20525795,12486230,17968469,16858410,16344560,16174769,15489334,14702039,12594517,12477932,8570611,20714506 221120 NM_139178,AC087521,CH471064,CQ786761,DQ196343,AB042029,AK125602,AK315266,BC015155,BC067257,BC103812,BC103813,BC103814,CD364334,CR602476,CR612017,CR615997,CR621454,CR623815,DA685031,U38442 NP_631917,EAW68078,EAW68079,CAG17896,ABA27096,BAB70508,AAH15155,AAH67257,AAI03813,AAI03814,AAI03815,Q96Q83 Hs.720708 ABH3|DEPC-1|DEPC1|FLJ43614|MGC118790|MGC118792|MGC118793|PCA1 alkylated DNA repair protein alkB homolog 3|alpha-ketoglutarate-dependent dioxygenase alkB homolog 3|prostate cancer antigen 1|prostate cancer antigen-1 protein-coding 1603303 ALKBH4 alkB, alkylation repair homolog 4 (E. coli) 15489334,14702039,12477932,9373149,17207965,17979886,8125298 54784 NM_017621,AC093668,CH471197,CS300642,AK000020,AK026097,AK222689,BC002820,BC017096,BX353099,CA420615 NP_060091,EAW50249,CAK32306,BAA90888,BAB15358,BAD96409,AAH02820,AAH17096,Q9NXW9,ADQ31831 Hs.658598 ABH4|FLJ20013 alkylated DNA repair protein alkB homolog 4|probable alpha-ketoglutarate-dependent dioxygenase ABH4 protein-coding 1603209 ALKBH5 alkB, alkylation repair homolog 5 (E. coli) 15489334,12477932,11997338,8889548,14702039 54890 NM_017758,AC087164,AC109515,CH471196,AK000129,AK000315,AK025817,AK301107,AK311161,AK311511,AL137263,BC062339,BI823385,BU740432 NP_060228,EAW55661,EAW55662,BAA91078,BAG62706,AAH62339,Q6P6C2 Hs.462392 ABH5|FLJ20308|OFOXD|OFOXD1 alkylated DNA repair protein alkB homolog 5|oxoglutarate and iron-dependent oxygenase domain containing|probable alpha-ketoglutarate-dependent dioxygenase ABH5 protein-coding 1605913 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) 12477932,8889548 84964 NM_198867,AC002116,AB273714,AK304805,AK310130,AK310704,AK314150,AK315894,BC007601,BC036061,BC105801,BM713594,BU963363,CR596548,CR604192,NM_032878 NP_116267,NP_942567,BAF63844,BAG65555,BAG36837,BAF98785,AAI05802,Q3KRA9 Hs.71941 ABH6|MGC15677 OTTHUMP00000180599|alkylated DNA repair protein alkB homolog 6|alkylation repair homolog 6|probable alpha-ketoglutarate-dependent dioxygenase ABH6 protein-coding 1352016 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) 737633 9373149,8125298,12477932,15489334,12975309 737633 84266 BM271861,BX334356,NM_032306,AC011491,CH471139,AK223336,AK311956,AY358858,AY427650,BC004393 NP_115682,EAW69102,BAD97056,BAG34896,AAQ89217,AAR24624,AAH04393,Q9BT30 Hs.111099 ABH7|MGC10974|SPATA11|UNQ6002 alkylated DNA repair protein alkB homolog 7|probable alpha-ketoglutarate-dependent dioxygenase ABH7|spermatogenesis associated 11|spermatogenesis cell proliferation related protein|spermatogenesis cell proliferation-related protein|spermatogenesis-associated protein 11 protein-coding 1602194 ALKBH8 alkB, alkylation repair homolog 8 (E. coli) 19293182,14702039,12477932,20308323,17207965 91801 NM_138775,AP001823,CH471065,AB218768,AF086489,AK095523,AK293603,AK298800,AK304413,BC015183,BX649085 NP_620130,EAW67088,EAW67089,EAW67090,BAG16270,BAC04566,BAG57067,BAG60935,BAG65244,AAH15183,Q96BT7,ADQ31655 Hs.503763 ABH8|FLJ38204|MGC10235 AlkB homologue 8|OTTHUMP00000211286|OTTHUMP00000211287|S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8|alkylated DNA repair protein alkB homolog 8|probable alpha-ketoglutarate-dependent dioxygenase ABH8 protein-coding 736731 ALLC allantoicase Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM] 1580863 16344560,15815621,15489334,12477932,12036579,11054555 55821 NM_018436,AC010907,CH471053,AF215924,AF395820,AK302299,BC029652,BC035356,DB054905 NP_060906,AAY24236,EAX01050,EAX01051,AAF67097,AAK72970,BAG63639,AAH29652,AAH35356,Q8N6M5 Hs.97899 ALC allantoate amidinohydrolase|probable allantoicase protein-coding 1323128 ALMS1 Alstrom syndrome 1 This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined. 1601169,1580863,1576431 15855349,19091203,18506366,17594715,16601972,15815621,15489334,14654843,14646408,12827243,12477932,12168954,11941370,11941369,10598815,9205841,9063741,12421765,11076968,12221128,12852856,16462731,19283855,20379614,20381594,20383146,7790358,19913121,20628086,20801516,20383145 1601169,1576431 7840 NM_015120,NG_011690,AC074008,AC092653,AC096546,CH471053,AB002326,AJ417593,AL832273,AL833495,BC035025,BC050330,BX647706,BX648632,EF151141 NP_055935,AAY24208,AAX82023,EAW99728,EAW99729,EAW99730,EAW99731,BAA20786,CAD10391,AAH35025,AAH50330,ABL96615,Q8TCU4 Hs.184720 ALSS|DKFZp686A118|DKFZp686D1828|KIAA0328 Alstrom syndrome protein 1|OTTHUMP00000202401 protein-coding 1606431 ALMS1P Alstrom syndrome 1 pseudogene 16344560,12477932,20383145 200420 NR_003683,AC092653,CH471053,AK307160,BC014492,DA427693 EAW99725,EAW99726,Q96L16,ABM83977,ABM87298 Hs.278983 ALMS1L pseudo 1322469 ALOX12 arachidonate 12-lipoxygenase 1578309,1578308,2313845,2313877,2313872,2313875,2315607,2315608,2315609,2315610,2315611,1578303,1580863 20382140,20653566,2217179,2377602,10727209,15105833,15305153,14669797,15111312,12858336,14767568,15010818,15107407,19328558,19046748,18992148,18640486,18755188,18676680,18547056,18504448,18187376,17893696,17520163,17460548,17379189,17236225,17192687,17151091,17045234,16788089,16638750,16598376,16514435,16482570,16118214,15797645,15729574,15489334,15308583,15142951,14532840,12907138,12731864,12664578,12664573,12664313,12538614,12477932,12394183,11914583,10760478,10446449,9082968,8912711,8641843,8304420,7868854,3926763,3406043,2244907,1570320,1447217,15474031,18086569,19170196,19423540,19469483,19625176,19663136,19692168,19885615,19948975,20061896,20089617,20181616,20406964,20431935,20438785,20453000,21094135,19913121,20592751,20626912,20628086,20697415 1578309,1578308,2313845,2313877,2313872,2313875,2315607,2315608,2315609,2315610,2315611,1578303 239 NM_000697,AC040977,AY527817,CH471108,D12638,M87004,AF143883,BC069557,M35418,M58704,M62982,S68587,S68588 NP_000688,AAS00094,EAW90281,BAA02162,AAA51587,AAD32700,AAH69557,AAA60056,AAA59523,AAA51533,AAD14020,AAD14021,P18054,Q16120 Hs.654431 12-LOX|12S-LOX|LOG12 12(S)-lipoxygenase|12S-lipoxygenase|arachidonate 12-lipoxygenase, 12S-type|platelet 12-LOX|platelet-type 12-lipoxygenase|platelet-type lipoxygenase 12 protein-coding 1313295 ALOX12B arachidonate 12-lipoxygenase, 12R type This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq] 1578309,1580863 9618483,19372141,19131948,19064572,19023099,18347291,17975119,17436029,17139268,15629692,15489334,14702039,12664578,12477932,11773004,11368351,11350124,10727209,9837935,18086569,19423540,19558494,19890349,20406964,20438785 1578309 242 NM_001139,NG_007099,AC129492,AJ305026,AJ305027,CH471108,AF038461,AF059250,BC041058 NP_001130,CAC34520,EAW90095,AAC39770,AAC79680,AAH41058,O75342 Hs.136574 12R-LOX 12R-lipoxygenase|arachidonate 12-lipoxygenase, 12R-type|epidermis-type lipoxygenase 12 protein-coding 1606590 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 1570320 243 NG_000844,AC005562,AC011840 ALOX12P pseudo 1354244 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 12477932,9691181,1570320 245 NR_002710,AC027763,AF020775,AF020774,AL832768,BC041851 Hs.378695 ALOX12E|MGC43625 pseudo 1352372 ALOX15 arachidonate 15-lipoxygenase 70288,1580863 18029348,20382140,20649594,20861348,19131661,19131063,19089921,19046748,18799463,18785202,18774388,18755188,18692814,18684974,18676680,18647347,18547056,18392641,18239141,18227726,18198215,18187376,18180398,18090132,18067895,17991885,17959182,17662651,17652958,17520163,17439326,17344094,17227895,17164146,17043146,16997127,16847316,16820097,16598376,16556493,16357157,16320347,16179498,16000313,15996861,15967444,15912043,15879104,15838625,15489334,15459485,15194425,15111312,14757756,14643174,12907138,12748293,12731864,12664628,12664577,12477932,12084190,11956198,11861792,11475334,11196700,11023533,10464294,9931410,9822675,9700053,9414270,9224951,7961680,3356688,3202520,2719708,2010530,1944593,1825526,1733732,1729692,3202857,10200270,19325142,19198625,1662607,1570320,1566855,21094135,17711445,19130894,19170196,19296842,19423540,19429775,19453261,19469483,19481615,19497113,19528634,19568414,19576981,19625176,19663136,19692168,19752603,19775287,19942621,19948975,20308035,20406964,20438785,19913121,20485444,20592751,20628086,20676957,20668019 70288 246 NM_001140,AC118754,AY505111,CH471108,U63384,U88317,AK290309,AK296792,AK296821,AK296904,AK312557,AK316126,BC029032,M23892,M95923 NP_001131,AAR84235,EAW90427,EAW90428,AAC52118,AAB49305,BAF82998,BAH12431,BAH12437,BAH12452,BAG35454,BAH14497,AAH29032,AAA36182,AAA35482,P16050,Q12938 Hs.73809 15-LOX-1|15-LOX2|15LOX-1 15-LOX|15-lipooxygenase-1|arachidonate 15-lipoxygenase|arachidonate omega-6 lipoxygenase protein-coding 731629 ALOX15B arachidonate 15-lipoxygenase, type B This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1578310,1580863 11839751,9177185,19064572,18156936,17139268,16682954,16556493,15799828,15797645,15489334,15342556,15247906,12704195,12659684,12477932,11350124,10542053,2318885,20428779,19423540,19645454,19661680,20406964,20438785,20677014,20668019 1578310 247 NM_001039130,NM_001039131,AC129492,AF149095,AJ305028,AJ305029,AJ305030,AJ305031,NM_001141,CH471108,AF468051,AF468052,AF468053,AF468054,AK292779,AK298095,AK300554,BC033294,BC035217,BC063647,BP327830,CA307212,CA405703,U78294 NP_001132,NP_001034219,NP_001034220,AAD37786,CAC34521,EAW90097,EAW90098,EAW90099,EAW90100,EAW90101,EAW90102,AAL76274,AAL76275,AAL76276,AAL76277,BAF85468,BAG60380,BAG62260,AAH35217,AAH63647,AAB61706,O15296,ABM82271,ABW03380 Hs.111256 15-LOX-2 15-LOX-B|15-lipoxygenase 2|15S-lipoxygenase|arachidonate 15-lipoxygenase 2|arachidonate 15-lipoxygenase B|arachidonate 15-lipoxygenase type II|arachidonate 15-lipoxygenase, second type|arachidonate omega(6) lipoxygenase protein-coding 1345047 ALOX15P arachidonate 15-lipoxygenase pseudogene 11350124 342531 NG_009476,AC004706 ALOX15P pseudo 4144232 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 642959 AADB02012657,ABBA01018599,AL136981,AL389924 pseudo 732775 ALOX5 arachidonate 5-lipoxygenase This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq] 734559,1626154,1626153,1626152,1300048,1578311,632195,1626150,1626151,2313910,1331525,734558,734557,1580863,2317527,2317529,2317531,2317535,2317536,2317521,2317523,2317524,2317522,2317525,2317533,4890414,4890432,4890435,4890413,4890422,4890423,4890433,4890410,4890411,4890419,4890430,4890415,4890434,4890418,4890420,4890421,4890407,4890429,4890405,4890417 10514459,9445303,9435249,9373149,9150468,9079648,8585605,8268460,8245774,8125298,8066098,7929073,7624354,7556168,10051563,3422434,3134355,2565035,2251250,1939225,1540191,12354292,9639560,2829172,11297527,11785969,19423540,19258923,19247692,19233132,19214143,19134178,19131661,19130089,19083497,19075240,19053751,19022417,18996667,18992148,18991687,18978352,18976020,18927292,18843019,18842779,18678882,18676680,18571838,18525291,18421434,18421027,18398223,18369664,18366797,18339529,18295198,18280718,18218859,18204779,18180307,18179798,18174194,17924829,17909879,17894944,17825794,17521309,17500032,17467166,17460547,17434678,17373938,17373700,17236225,17115186,17080223,17072961,17703412,17616938,17018618,16924104,16919603,16899822,16750418,16733792,16698924,16672272,16537708,16531984,16495221,16413224,16402861,16364163,16361798,16293801,16275640,16165096,16135563,15933245,15923196,15848143,15661803,15616590,15308583,15301234,15280375,15219851,15010818,14767568,14749922,14702425,14532840,12911785,12907138,12893830,12859962,12751769,12751768,12751728,12730086,12695552,12664574,12629151,12525578,12477932,12234060,12163367,12140292,12111389,12107604,12021253,11844797,11796736,11471199,11462800,10779545,10673219,16385451,19170196,19390118,19446447,19450127,19473080,19497113,19524426,19578796,19625176,19692168,19717473,19724895,19807693,19851296,19888660,19893172,19919819,19948975,20110601,20126469,20128419,20173757,20198315,20388081,20406964,20453000,20503287,20438785,20139978,20382140,19913121,20592751,20628086,20677014,20682687,20372792,20549218,21098726 734559,1626154,1626153,1626152,1578311,632195,1626150,1626151,2313910,1331525,734558,734557,2317527,2317529,2317531,2317535,2317536,2317521,2317523,2317524,2317522,2317525,2317533,4890414,4890432,4890435,4890413,4890422,4890423,4890433,4890410,4890411,4890419,4890430,4890415,4890434,4890418,4890420,4890421,4890407,4890429,4890405,4890417 240 NM_000698,NG_011437,AL731567,CH471160,J04520,M38191,AB208946,AK225603,AK315223,BC034464,BC040450,BC130332,BC132677,BC143985,BC143986,BQ003253,J03571,J03600,HM592261,HM592258,HM592259,HM592260 NP_000689,CAI41243,EAW86642,EAW86643,AAA59522,AAA63212,BAD92183,AAI30333,AAI32678,AAI43986,AAA65450,AAA36183,P09917,Q59H13,ADR30801,ADR83089,ADR30798,ADR30799,ADR30800 Hs.89499 5-LO|5-LOX|5LPG|LOG5|MGC163204 5-lipoxygenase|arachidonate 5-lipoxygenase|arachidonic 5-lipoxygenase alpha-10 isoform|arachidonic 5-lipoxygenase delta-10-13 isoform|arachidonic 5-lipoxygenase delta-13 isoform|arachidonic 5-lipoxygenase delta-p10 isoform|arachidonic acid 5-lipoxygenase|leukotriene A4 synthase protein-coding 736460 ALOX5AP arachidonate 5-lipoxygenase-activating protein This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. [provided by RefSeq] 1578317,632195,2313883,2313884,2313886,2313891,2313892,2313900,2313902,2313907,2311309,2313910,69749,2313931,2313895,2313903,2313905,2313913,2313888,1331525,1580863,734558,4890422,4890409,1626154,4890421,4890407 16144515,16127181,15886380,15876305,15861005,15784112,15731479,15640973,15593193,15489334,15057823,14770184,14749922,14702425,12911785,12629151,12571239,12477932,11090070,11035107,10036194,9445303,9435249,8777565,8703034,8440384,8071328,8049076,7938075,2300173,1857337,1673682,1588922,19233132,17600184,8245774,19417766,19373490,19361804,19336475,19166692,19131661,19130089,19126581,19046748,18977990,18945963,18843019,18775537,18547289,18506375,18398440,18398223,18374923,18369664,18366797,18323512,18318662,18084092,17655870,17627106,17505527,17460547,17387518,17304054,16939001,16778124,16282974,19288030,19423540,19450127,19524426,19596330,19622707,19729601,19948975,20014490,20067482,20128419,20194722,20357438,20369037,20376802,20379614,20406964,20438785,20485444,20592751,20810156 1578317,632195,2313883,2313886,2313891,2313892,2313900,2313902,2313907,2311309,2313910,69749,2313931,2313895,2313903,2313905,2313913,2313888,1331525,734558,4890422,4890409,1626154,4890421,4890407 241 NM_001629,NG_011963,AL512642,AY619687,CH471075,M60470,M63259,M63260,M63261,M63262,AK314143,BC018538 NP_001620,CAH74084,AAT38104,EAX08467,AAA35845,AAH18538,P20292,ABM82573,ABM85762 Hs.507658 FLAP MK-886-binding protein|arachidonate 5-lipoxygenase activating protein|arachidonate 5-lipoxygenase-activating protein protein-coding 1314765 ALOXE3 arachidonate lipoxygenase 3 The leukotrienes constitute a group of arachidonic acid-derived compounds with biologic activities suggesting important roles in inflammation and immediate hypersensitivity. These compounds are catabolized, in part, by lipoxygenases. Epidermis-type lipoxygenases, a distinct subclass within the multigene family of mammalian lipoxygenases, are novel isoenzymes isolated from human and mouse skin including human ALOX15B (MIM 603697), human and mouse ALOX12B (MIM 603741), mouse 8S-LOX, and mouse e-LOX-3.[supplied by OMIM] 1599073,1580863 19131948,19064572,17436029,17139268,17045234,16344560,15629692,15489334,14702039,12477932,11773004,11350124,19423540,19890349,20406964,20438785,20921226,20923767 1599073 59344 AC129492,AJ305020,AJ305021,AJ305022,AJ305023,AJ305024,AJ305025,CH471108,AF182218,AJ269499,AK292732,AK296416,AK299742,AK313677,NM_021628,BC101938,BC101939,BC103508,BC104724,DA183156,DC376381,NG_015807,NM_001165960 BAG36428,NP_067641,CAC34518,EAW90093,EAW90094,AAG16899,CAC12843,BAF85421,BAH12346,BAH13114,AAI01939,AAI01940,AAI03509,AAI04725,Q9BYJ1,NP_001159432 Hs.232770 E-LOX|MGC119694|MGC119695|MGC119696|eLOX3 OTTHUMP00000135319|e-LOX-3|epidermal lipoxygenase|epidermis-type lipoxygenase 3 protein-coding 737157 ALPI alkaline phosphatase, intestinal There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is upregulated during small intestinal epithelial cell differentiation. [provided by RefSeq] 1300048,1580863 2841341,18307834,18292227,17498884,16344560,15831710,15774940,15715171,15302935,15143152,12919939,12660142,12577238,12477932,12466148,12372831,11352565,9755994,8449034,8240697,7482591,3697102,3687940,3469665,3468508,3458202,3443302,1458595,1321014,17353931,17139249,19407215,20489044 248 NM_001631,AC068134,CH471063,J03930,Y00512,AA190871,AK313163,BC132678,DA925041,M15694,M21499,M31008 NP_001622,AAY24089,EAW70997,EAW70998,AAA98617,CAA68564,BAG35981,AAI32679,AAA51703,AAA51704,P09923 Hs.37009 IAP Kasahara isozyme|alkaline phosphatase 1, intestinal, defined by ssr|alkaline phosphomonoesterase|glycerophosphatase|intestinal alkaline phosphatase|intestinal-type alkaline phosphatase protein-coding 1351787 ALPK1 alpha-kinase 1 Unlike most eukaryotic kinases, alpha kinases, such as LAK, recognize phosphorylation sites in which the surrounding peptides have an alpha-helical conformation.[supplied by OMIM] 1580863 16344560,15883161,15489334,15221005,14702039,12477932,12168954,10819331,10737800,10021370,20332099 80216 NM_025144,NM_001102406,AC004049,CH471057,AB040960,AB075877,AK026323,AK026715,AK091872,AK097246,AK131090,AK303489,AK304708,AY044164,BC028117,BC060780,BE155590,BX648798,DB250317 NP_079420,NP_001095876,EAX06274,EAX06275,EAX06276,BAA96051,BAD38659,BAB15444,BAG53440,BAC85140,BAG64524,BAG65473,AAK94675,Q96QP1,Q9H623 Hs.652825 8430410J10Rik|FLJ22670|KIAA1527|LAK OTTHUMP00000219656|alpha-protein kinase 1|chromosome 4 kinase|lymphocyte alpha-kinase|lymphocyte alpha-protein kinase protein-coding 1343226 ALPK2 alpha-kinase 2 14702039,10021370,19690890 115701 NM_052947,AC104971,AC105105,CH471096,AK092133,AK092194,AK125243,AL832018,AY044450,BX647446,BX647639,BX647796 NP_443179,EAW63077,BAC03812,CAD89922,AAK95952,Q86TB3,AAI72418 Hs.628152 FLJ34875|FLJ43253|HAK alpha-protein kinase 2|heart alpha-kinase|heart alpha-protein kinase protein-coding 1344760 ALPK3 alpha-kinase 3 1580863 14702039,12477932,11418590,10718198,10021370 57538 NM_020778,AC012291,AC103741,CH471101,AB037751,AK022943,AK024829,AK026851,AK300484,AL109725,AL109780,AL365516,AL832372,AL833276,AL833288,AY044449,BC016870,BC040192,BC067284 NP_065829,EAX01960,BAA92568,BAG62199,AAK95951,Q96L96 Hs.459183 FLJ12881|FLJ21176|KIAA1330|MAK|MIDORI alpha-protein kinase 3|muscle alpha-kinase|muscle alpha-protein kinase|myocyte induction differentiation originator protein-coding 1346147 ALPL alkaline phosphatase, liver/bone/kidney There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq] 1601171,1601173,2315616,2315619,1599076,1580863,1601172,1601177,1601174 19860546,14517339,1409720,20175736,18328985,20355242,17023519,9781036,19500388,19453261,19423565,19419944,19303062,19084045,19012630,18940312,18769922,18724009,18665784,18605934,18579124,18523927,18500657,18496130,18469019,18455459,18422967,18158785,18037100,18029348,17922851,17719863,17563703,17516619,17395561,17253930,17242729,17229666,17195227,17043047,16932897,16893177,16681433,16602701,16583221,16344560,15824850,15694177,15660230,15629439,15562030,15489334,15476587,15248185,15230135,15208311,15135428,14756545,14702039,15146197,18572267,19335222,19631305,19641839,19729429,19751416,12920074,12815606,12788869,12638946,12477932,12412800,12397600,12372831,12357339,11999978,11855933,11834095,11810413,11760847,11745997,11528114,11479741,11438998,11073119,10865224,10834525,10737975,10690885,10679946,10508980,10332035,10094560,9844100,9823315,9814472,9747027,9192863,8954059,8406453,7833929,7509208,6933471,3954357,3532105,3446011,3410475,3174660,3165380,2928120,2346496,2220817,1458595,1321014,19751417,19856264,19884277,19888898,19931660,20048161,20231843,20379614,20558539,20345388,20634292,20809279,20924064 1601171,1601173,2315616,2315619,1599076,1601172,1601177,1601174 249 AK097413,AK293184,AK295608,AK298085,AK312667,BC021289,BC066116,BC090861,BC110909,BC126165,BC136325,DA625627,DA631560,NM_001127501,NG_008940,AL359815,AL592309,CH471134,D87874,D87875,D87876,D87877,D87878,D87879,D87880,D87881,D87882,D87883,D87884,D87885,D87886,D87887,D87888,D87889,M24428,M24439,X53750,AB011406,AB012643,AB209814,NM_000478,CN425768,DA574668,NM_001177520 BAH11467,BAH12123,BAH12722,BAG35549,AAH21289,AAH66116,AAH90861,AAI10910,AAI26166,AAI36326,P05186,Q9UIL5,NP_000469,NP_001120973,CAI16249,CAI16259,CAH72079,EAW94974,EAW94975,EAW94976,EAW94977,AAB59378,BAA32129,BAA88367,BAD93051,NP_001170991,ADR83041 Hs.75431 AP-TNAP|APTNAP|FLJ40094|FLJ93059|HOPS|MGC161443|MGC167935|TNAP|TNSALP alkaline phosphatase liver/bone/kidney isozyme|alkaline phosphatase, tissue-nonspecific isozyme|alkaline phosphomonoesterase|glycerophosphatase|liver/bone/kidney-type alkaline phosphatase|tissue-nonspecific ALP protein-coding 1314395 ALPP alkaline phosphatase, placental (Regan isozyme) There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline phosphatase have been well characterized. [provided by RefSeq] 1580863 3042787,12493773,18802949,18752324,18416535,16893177,16815919,16431676,16344560,16303743,15946677,15815621,15715171,15489334,14595869,12851398,12477932,12372831,12081485,11937510,11857742,11352565,11124260,6651840,3512548,3461452,3459156,3443302,3422741,3001717,2891112,2153284,1730777,1321014,11278620,12616539,11938765,19595020,19570815,19574883,2133555,20655896,20693656,20299338,20663553 250 M14169,M14170,NG_012189,AC068134,CH471063,M19159,M19161,AF217992,AK075432,AK312931,BC009647,BC068501,BC094743,CR599162,CR621490,DA851165,M12551,M13077,NM_001632,HC006778 AAA51708,AAA51709,P05187,NP_001623,AAY24087,EAW70991,AAA51710,AAA51705,BAG35774,AAH09647,AAH68501,AAH94743,AAA51706,AAC97139,CBH19195 Hs.284255 ALP|FLJ61142|PALP|PLAP PLAP-1|Regan isozyme|alkaline phosphatase Regan isozyme|alkaline phosphatase, placental (Regan isozyme)|alkaline phosphatase, placental type|alkaline phosphomonoesterase|glycerophosphatase|placental alkaline phosphatase 1 protein-coding 1347925 ALPPL2 alkaline phosphatase, placental-like 2 There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq] 1580863 1722150,1581814,2162249,17009260,16412386,16344560,15815621,15489334,12477932,12372831,11937510,11124260,10471145,9823315,7166303,6814793,6651840,3674755,3519002,3512548,3461452,3459156,3443302,3422741,3387245,3042787,3001717,2921344,2834730,2745460,2578098,2297757,2171580,2153284,2009524,1730777 251 NM_031313,AC068134,CH471063,CS223387,J03252,M19160,X07247,AB012642,AI982769,AK293017,BC014139,DB194270,J04948,X53279,X55958 NP_112603,AAY24088,EAW70994,EAW70995,EAW70996,CAJ46933,AAA98616,AAA51707,CAA30232,BAA88366,BAF85706,AAH14139,AAA51700,CAA37374,CAA39425,P10696,Q9UIL6 Hs.333509 ALPG|ALPPL|GCAP ALP-1|Nagao isozyme|PLAP-like|alkaline phosphatase Nagao isozyme|alkaline phosphatase, placental-like|germ cell alkaline phosphatase|placental alkaline phosphatase-like|placental-like alkaline phosphatase|testicular and thymus alkaline phosphatase protein-coding 1346648 ALPPP alkaline phosphatase, pseudogene 11352565 260330 AF307337 1321241 ALS2 amyotrophic lateral sclerosis 2 (juvenile) The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599080,1580863 15247254,16670179,12837691,16049005,11586298,17239822,16085057,15371724,19122027,19023603,18810511,18523452,17955197,17698795,16249884,15579468,15489334,15388334,15342556,14970233,14702039,14676054,14668431,12919135,12866199,12601111,12477932,12168954,12145748,12138710,11687798,11586297,10997877,9933298,9889004,8889548,15324660,20379614 1599080 57679 NM_020919,NM_001135745,NG_008775,AC007242,AC007279,CH471063,AB046783,AB053305,AB053306,AF391100,AK023024,AK056413,AK291029,BC029174,BC071576,BM560426,BM978733,BP348546,BU623061 NP_065970,NP_001129217,AAX93181,AAY15058,EAW70291,EAW70292,EAW70293,BAB13389,BAB69014,BAB69015,AAL14103,BAB14362,BAG51702,BAF83718,AAH29174,AAH71576,Q6IQ41,Q96Q42 Hs.471096,Hs.621812 ALS2CR6|ALSJ|FLJ31851|IAHSP|KIAA1563|MGC87187|PLSJ OTTHUMP00000206119|OTTHUMP00000206122|alsin|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein|amyotrophic lateral sclerosis 2 protein protein-coding 1605837 ALS2CL ALS2 C-terminal like 17239822,15388334,14702039,12477932,8889548,16344560 259173 NM_147129,NM_182775,AC104304,AC134504,AF235535,CH471055,AB107015,AK074118,AK092455,AK093844,AK096091,AK097225,AK126505,AK131270,AK131273,AL832132,AL832203,AL833107,BC042906,BC061883,BC075825,BC109233,BU685010,CR627258,DA242202,DB350037,NM_001190707,NR_033815 NP_667340,NP_877576,AAK13665,EAW64775,EAW64776,EAW64777,EAW64778,EAW64779,EAW64780,BAD51817,BAB84944,BAC03895,BAC04237,BAC86572,BAD18448,BAD18450,AAH42906,AAH61883,AAH75825,AAI09234,CAH10367,Q60I27,Q8NAL7,Q8TEK5,AAI56526,AAI72558,NP_001177636 Hs.517937 DKFZp686P238|MGC129698|RN49018 ALS2 C-terminal-like protein protein-coding 1353551 ALS2CR10 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 10 11586298 65072 AB053312,AC007283 Hs.664613 miscrna 1345082 ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 16189514,15815621,15489334,14702039,12477932,11586298,11827452 151254 BX648732,NM_152525,AC007282,CH471063,AB053313,AK058080,AK097651,AL833429,BC030659,BG701187,AI754862,BE502681,BG773299,DB525255,NM_001168216,NM_001168217,NM_001168221 NP_689738,AAY14693,EAW70277,EAW70278,EAW70279,EAW70280,BAB69021,BAB71654,BAC05132,AAH30659,Q53TS8,Q8N7U5,Q96Q36,NP_001161688,NP_001161689,NP_001161693 Hs.335788 DKFZp686H0636|FLJ25351|FLJ40332 OTTHUMP00000206610|OTTHUMP00000206611|OTTHUMP00000206612|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein protein-coding 1343894 ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 1580863 17474147,19692168,19773279,20379614,11586298,18649358,16189514,12477932,8889548,17207965,21048031 130540 NM_139163,NM_001127391,AC007256,CH471063,AB053314,AK124115,AK292283,BC031603,BX095441,CA314586 NP_631902,NP_001120863,AAY24226,EAW70267,EAW70268,EAW70269,EAW70270,BAB69022,BAF84972,AAH31603,Q8N1B6,Q96Q35,ADQ31789 Hs.107944 OTTHUMP00000163724|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein protein-coding 1353075 ALS2CR14 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 11586298 65068 Q96Q33 NM_178231,AB053316 1314457 ALS2CR16 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 14702039,12477932,11586298 130029 XM_001134431,XM_001134454,AC010900,AB053318,AK130065,BC132950,BC137214,CR597362 XP_001134431,XP_001134454,BAB69026,BAC85289,AAI32951,AAI37215,Q6ZP36 Hs.604686,Hs.648846 MGC164581 protein-coding 1315474 ALS2CR4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 1580863 15815621,15489334,14702039,12477932,11586298,18482256 65062 NM_152388,AC007279,AC007282,CH471063,AB053301,AF212043,AK022836,AK090601,AK125841,AK303954,AK304395,BC013730,BC029611,NM_001044385,BQ219059,BX538000,CR603031,CR608801 NP_001037850,NP_689601,AAY15056,AAY14694,EAW70281,EAW70282,EAW70283,EAW70284,BAB69011,AAL56640,BAC03487,BAG64880,BAG65230,AAH13730,AAH29611,CAD97955,Q8WYG0,Q96Q45 Hs.12319 DKFZp313L091|FLJ33282 ALS2CR4 protein, N-terminus truncated|OTTHUMP00000205924|OTTHUMP00000205925|OTTHUMP00000205927|OTTHUMP00000205928|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein protein-coding 1315654 ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 1580863 18555516,16344560,16189514,15815621,15489334,14702039,12477932,12154087,11832226,11586298,9373149,8125298 79800 NM_024744,NM_001104586,AC010900,CH471063,AB053309,AB053310,AF454946,AK022737,AK025232,AK225218,AK295499,AK295703,AK299366,AK304014,AK308171,AK310640,AK316432,AL834188,AV751848,AY032876,BC021999,BC033777,CK825814,DB094349 NP_079020,NP_001098056,AAY24288,EAW70320,EAW70321,EAW70322,EAW70323,EAW70324,BAB69018,BAB69019,AAL62330,BAB15088,BAG58419,BAG58550,BAG61358,BAG64929,BAH14803,CAD38882,AAK66819,AAH33777,Q8N187,ABM82274,ABM85454 Hs.444982 CARF|DKFZp667N246|FLJ12675|FLJ21579|NYD-SP24 OTTHUMP00000205971|OTTHUMP00000205972|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein|calcium-response factor|testis development protein NYD-SP24 protein-coding 1343013 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) 11706389 253 1349713 ALS5 amyotrophic lateral sclerosis 5 255 732877 ALX1 ALX homeobox 1 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq] 734689,1580863 16189514,8756334,8673125,18029348,15489334,12929931,12477932,9847249,9753625,7690966,7592751,20932315,20451171 734689 8092 NM_006982,AC127069,AC131532,AC133794,AJ558236,CH471054,BC010923,U31986,NG_023202 NP_008913,CAD90155,EAW97398,AAH10923,AAB08960,Q15699 Hs.41683 CART1|FND3 ALX homeobox protein 1|CART-1|cartilage paired-class homeoprotein 1 protein-coding 1352384 ALX3 ALX homeobox 3 This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq] 1580863 16825292,15226305,12477932,11807986,7991607,19409524,20634891 257 NM_006492,NG_012039,AF008202,AL160006,CH471122,AF008203,BC112007,BC113428 NP_006483,AAD01417,CAI22714,EAW56430,AAD01418,AAI12008,AAI13429,O95076 Hs.669953 MGC138212|MGC141988 aristaless-like homeobox 3|homeobox protein aristaless-like 3|proline-rich transcription factor ALX3 protein-coding 1320963 ALX4 ALX homeobox 4 1580863 11017806,11106354,11137991,19336475,17293876,16415175,16319823,15852040,14702039,11696550,11347906,9847249,8644736,20211142,20879858,16582099,19692347,19783719,8558565,20634891,20140221 60529 NM_021926,AC103854,AF308825,AJ279074,CH471064,AB058691,AF294629,AJ404888,AK092346,NG_015809 NP_068745,AAK38835,CAC15120,EAW68066,BAB47417,AAG23961,CAC15060,Q9H161,AAI66622 Hs.436055 FND2|FPP|KIAA1788|PFM|PFM1|PFM2 aristaless-like homeobox 4|homeobox protein aristaless-like 4|homeodomain transcription factor ALX4 protein-coding 1350379 AMAC1 acyl-malonyl condensing enzyme 1 1580863 17101974,14702039,12477932 146861 NM_152462,AC022916,CH471147,AK097473,BC136422,BC140700 NP_689675,EAW80161,BAC05067,AAI36423,AAI40701,Q8N808 Hs.514814 FLJ40154|TMEM21A acyl-malonyl-condensing enzyme 1|protein AMAC1|transmembrane protein 21A protein-coding 1344227 AMAC1L1 acyl-malonyl condensing enzyme 1-like 1 17101974 646000 XM_928960,XM_001720870,AP001017,AP001120 XP_934053,XP_001720922,P0C7Q5 acyl-malonyl condensing enzyme 1-like 1|acyl-malonyl-condensing enzyme 1-like protein 1|protein AMAC1L1 protein-coding 1605928 AMAC1L2 acyl-malonyl condensing enzyme 1-like 2 This gene seems to be intronless. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq] 19060906,17101974,11896452,20571754,12477932,20160193,20972250 83650 NM_054028,AF131216,CH471157,AJ291677,BC131696 NP_473369,EAW65610,CAC82744,AAI31697,Q96KT7 Hs.458397 AMAC acyl-malonyl-condensing enzyme 1-like protein 2|protein AMAC1L2 protein-coding 1345092 AMAC1L3 acyl-malonyl condensing enzyme 1-like 3 18950845,17101974 643664 NM_001102614,AC113189 NP_001096084,P0C7Q6 Hs.632234 TMEM21B acyl-malonyl-condensing enzyme 1-like protein 3|protein AMAC1L3|transmembrane protein 21B protein-coding 735888 AMACR alpha-methylacyl-CoA racemase Alpha-methylacyl-CoA racemase is responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers, which are the only stereoisomers that can be degraded via peroxisomal beta-oxidation.[supplied by OMIM] 2315628,2315635,2315632,2315633,2315629,2315630,1580863 16756494,20636793,19638170,10770938,19605815,19148275,19068396,18835622,18788852,18785113,18712414,18676680,18665038,18577240,18537123,18500268,18279392,18080842,18032455,17684125,17683075,17680641,17525630,17222253,17067752,16681682,16506014,16491480,16424894,16381901,15941951,15941950,15880524,15489336,15330799,15323145,14960364,20102405,20503447,14702039,14612535,12810662,12673556,12477932,12438241,12374981,12213712,12131161,11956072,11926890,11076863,11060344,10655068,9373149,9307041,8125298,7649182,16344560,19064571,19170196,19384190,19459159,19625176,19692168,20877624,20945498,20664974 2315628,2315635,2315632,2315633,2315629,2315630 23600 NM_203382,NM_014324,AC139783,CH471118,AF047020,AF158378,AJ130733,AK000912,AK022765,AK222831,AK225749,AK292988,AL545355,AL571115,AY330488,AY330489,AY935981,BC009471,BG708726,BI550368,BQ941482,BT007193,CR615811,CR616479,CR618063,CR625004,EF560721,FJ498906,FJ498907,FJ498908,AA969512,DA156454,NG_016211,NM_001167595,NM_001167596,NM_001167597,NM_001167598 NP_976316,NP_055139,EAX10815,EAX10816,EAX10817,EAX10818,AAD10205,AAF22610,CAB44062,BAG50838,BAG51110,BAD96551,BAF85677,AAQ67234,AAQ94259,AAY16192,AAH09471,AAP35857,ABQ59031,ACL67853,ACL67854,ACL67855,Q3KT79,Q53GV0,Q6VRU3,Q6VRU4,Q9UHK6,CAL37503,NP_001161067,NP_001161068,NP_001161069,NP_001161070 Hs.508343 CBAS4|RACE|RM 2-methylacyl-CoA racemase|OTTHUMP00000219978|OTTHUMP00000219979|alpha-methylacyl-CoA racemase protein-coding 736409 AMBN ameloblastin (enamel matrix protein) Ameloblastin is thought to represent an unique ameloblast-specific gene product that may be important in enamel matrix formation and mineralization. The gene is located on chromosome 4 near other genes associated with mineralized tissues: osteopontin, bone sialoprotein, and bone morphogenetic protein 3. Based on its cytogenetic location, this gene is a candidate gene for one form of the disorder, dentinogenesis imperfecta, and/or the disorder, autosomal dominant amylogenesis imperfecta. [provided by RefSeq] 1580863 18781068,18353005,12477932,11330937,11054529,10946765,10634581,9126491,9032019,17331365,19661317,20043904,20831578 258 NM_016519,AC134919,AY009124,CH471057,AF209780,AF219994,AF263464,AJ537437,AK314918,BC106931,BC106932 NP_057603,AAG27036,EAX05623,EAX05624,AAG35772,AAF37355,AAF73048,CAD60938,BAG37429,AAI06932,AAI06933,Q3B861,Q546D7,Q9NP70 Hs.272396 ameloblastin protein-coding 735479 AMBP alpha-1-microglobulin/bikunin precursor This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq] 1580863 20954860,11877257,12817471,14516400,11883904,9570066,10097787,14718574,18649735,18226914,18046670,17998887,17766242,17633530,17584166,17320766,17146627,17115277,17087727,16916777,16407257,16140784,15653696,15498571,15489334,15452109,15037615,14597629,12477932,11807786,11058759,11036097,10878892,10727951,10631976,10447938,9671439,9566199,9472382,9183005,7682553,7535251,7533162,7528952,7513643,7506257,6198962,6196366,6171497,6164372,3890890,3663330,2482577,2472935,2465147,2430261,2428011,2419908,2413856,2408638,1898736,1714898,1708673,1700638,1696200,1694784,1385302,72071,7519849,1697852,16712791,17207965,21067798,20602574,18448433,19636634,19914646,19879940,19913121,20628086 259 NM_001633,AL137850,CH471090,CS208015,M88249,X53686,X54816,X54817,X54818,AK290837,AK310776,AK310791,AY544123,BC041593,CB141734,CR607981,CR615737,CR616173,M11562,X04225,X04494,AK303795,HB867200 NP_001624,CAI15899,EAW87404,CAJ44933,AAA59196,CAA37726,CAA38585,CAA38586,CAA38587,BAF83526,AAT11154,AAH41593,AAA59194,CAA27803,CAA28182,P02760,P78492,ADQ32920,BAH14052,CBF57586 Hs.436911 A1M|EDC1|HCP|HI30|IATIL|ITI|ITIL|ITILC|UTI alpha 1 microglobulin/bikunin|alpha-1-microglobulin/bikunin|bikunin|complex-forming glycoprotein heterogeneous in charge|growth-inhibiting protein 19|inter-alpha-trypsin inhibitor light chain|protein AMBP|protein HC|trypstatin|uristatin|uronic-acid-rich protein protein-coding 1604349 AMBRA1 autophagy/beclin-1 regulator 1 17589504,17622796,17603510,14702039,12477932,12107410,11214970,16949367,19615732,20694011,20562859,20921139 55626 AC024293,NM_017749,AC115097,AC116021,AC127035,CH471064,AB051523,AK000301,AK023197,AK057896,AK302808,AK304530,AL137611,AL834190,BC045609,CA389399,CR590663,DQ870924 NP_060219,EAW67996,EAW67997,EAW67998,EAW67999,EAW68000,EAW68001,EAW68002,BAB21827,BAA91067,BAB14457,BAG64009,BAG65331,AAH45609,ABI74670,Q9C0C7 Hs.654644 DCAF3|FLJ20294|KIAA1736|MGC33725|WDR94 DDB1 and CUL4 associated factor 3|WD repeat domain 94|activating molecule in BECN1-regulated autophagy protein 1|activating molecule in beclin-1-regulated autophagy protein-coding 1348845 AMCD2B arthrogryposis multiplex congenita, distal, type 2B 9012416 8044 1343154 AMCN arthrogryposis multiplex congenita, neurogenic 9345093 261 1351440 AMD1 adenosylmethionine decarboxylase 1 This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Two alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq] 1580863,1578320 1917972,2460457,19053272,18548481,17259861,17069747,16344560,15521072,15489334,14718534,14574404,12600205,12477932,11583148,11583147,10574985,10378277,10029540,8353934,7789170,7634128,2687270,1527020,1400498,16941339,19161160,19527050,19661236,20615890,20215859 1578320 262 NM_001033059,AL357515,AL365206,CH471051,M88003,M88004,M88005,M88006,S47803,AJ420527,AJ420567,AK026205,AK125644,AK130474,AK300330,AK302761,AK304351,AK316471,AL832698,AU134914,BC000171,NM_001634,BC041345,BX640599,CR599478,CR604279,CR610717,CR611524,M21154 NP_001625,NP_001028231,CAH73388,CAH73389,CAH73390,CAI23233,CAI23234,CAI23235,EAW48307,EAW48308,EAW48309,AAD14903,BAG62078,BAG63972,BAG65194,BAH14842,CAI46113,AAH00171,CAE45705,AAA51716,P17707,Q5VXN4,Q5VXN5,Q6N0B2,ABM85036 Hs.159118 ADOMETDC|AMD|DKFZp313L1234|FLJ26964|SAMDC OTTHUMP00000017014|S-adenosylmethionine decarboxylase 1|S-adenosylmethionine decarboxylase proenzyme protein-coding 1603900 AMDHD1 amidohydrolase domain containing 1 15221005,15489334,14702039,12477932,20379614 144193 NM_152435,AC126174,CH471054,AB075878,AK054617,AK122802,AK290828,AL833144,BC029146 NP_689648,EAW97552,EAW97553,BAD38660,BAB70775,BAG53737,BAF83517,AAH29146,Q96NU7 Hs.424907 HMFT1272|MGC35366 amidohydrolase domain-containing protein 1|probable imidazolonepropionase protein-coding 1603049 AMDHD2 amidohydrolase domain containing 2 15146197,12477932,10810093 51005 NM_015944,NM_001145815,AC093525,CH471112,AB209351,AF132948,AK296877,AK300747,BC018734,CN362870,HB969100,HD026510 NP_057028,NP_001139287,EAW85498,EAW85499,EAW85500,BAD92588,AAD27723,BAG59439,BAG62416,AAH18734,Q59FV8,Q9Y303,CBG19170,CBV32525 Hs.726052 CGI-14 amidohydrolase domain-containing protein 2|glcNAc 6-P deacetylase|putative N-acetylglucosamine-6-phosphate deacetylase protein-coding 1347122 AMDM acromesomelic dysplasia, Maroteaux type 9634515 264 1350121 AMDP1 adenosylmethionine decarboxylase pseudogene 1 7789170 263 NG_001073,AJ271735,U02035 AMD|AMD2|AMDPX|AMDPY pseudo 735379 AMELX amelogenin (amelogenesis imperfecta 1, X-linked) This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1300281,1300370,1599092 1734713,19083859,19025992,18781068,18714142,18701806,18434575,18067069,18042988,17688372,17645864,15772651,15489334,15111628,12613657,12477932,11922869,11922868,11877393,11852235,11839357,11406633,9041053,16674683,18029348,8254123,8118759,7782077,2737677,2059881,2004775,2509010,1483698,1916828,19966041,20012165,19913121,20628086,20929860 1300281,1300370,1599092 265 NM_182680,NM_001142,NM_182681,NG_012040,AC002366,AY040206,CH471074,M55418,X14440,AF436849,BC069118,BC074951,M86932,S67147 NP_872621,NP_001133,NP_872622,AAC21581,AAK77213,EAW98792,EAW98793,EAW98794,AAA62826,CAA32613,AAL30432,AAH69118,AAH74951,AAA51717,AAB29184,Q99217 Hs.654436 AIH1|ALGN|AMG|AMGL|AMGX amelogenesis imperfecta 1|amelogenin (X chromosome, amelogenesis imperfecta 1)|amelogenin (amelogenesis imperfecta 1, X-linked)|amelogenin, X isoform protein-coding 1343944 AMELY amelogenin, Y-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq] 1580863 18029348,18067069,17588179,17189292,15489334,12815422,12477932,2737677,2037302,2004775,1734713 266 NM_001143,NG_008011,AC013412,CH471163,M55419,X14439,AY487421,BC069138,BC074976,BC074977,M86933 NP_001134,EAW59129,AAA62827,CAA32612,AAR39431,AAH69138,AAH74976,AAH74977,AAA51718,Q99218 Hs.1238 AMGL|AMGY OTTHUMP00000039060|amelogenin (Y chromosome)|amelogenin, Y isoform protein-coding 1323068 AMFR autocrine motility factor receptor Autocrine motility factor is a tumor motility-stimulating protein secreted by tumor cells. The protein encoded by this gene is a glycosylated transmembrane protein and a receptor for autocrine motility factor. The receptor, which shows some sequence similarity to tumor protein p53, is localized to the leading and trailing edges of carcinoma cells. [provided by RefSeq] 1580863 11724934,16168377,17681147,1649192,10456327,17043353,17157811,17310145,19560420,19103148,18037895,17872946,17265125,17071500,16979136,16563432,16407162,16186510,16184720,15489334,15331598,15303277,14702039,12962414,12670940,12477932,12067203,11902125,8889549,7626106,18835813,19549727,19690564,17353931,18216283,16275660,19661182,19828134,19835843,19864457,20089858,20504226 267 NM_001144,AC009102,AC092140,CQ834404,AF124145,AK023874,BC017043,BC051032,BC056869,BC069197,CR593778,CR612799,CR625924,L35233,M63175,W60999 NP_001135,CAH05417,AAD56722,AAH17043,AAH56869,AAH69197,AAA79362,AAA36671,P26442,Q1RN03,Q6PGR1,Q9UKV5 Hs.295137 GP78|RNF45 AMF receptor, isoform 1|AMF receptor, isoform 2|RING finger protein 45|autocrine motility factor receptor|autocrine motility factor receptor, isoform 1|autocrine motility factor receptor, isoform 2 protein-coding 736161 AMH anti-Mullerian hormone Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq] 1601180,1601181,1601183,1580863,2315637,2315638,2315652,2315639,1601182 16213847,20734064,20864412,20155783,20309569,20207725,3754790,14750901,12834017,19539910,19424576,19359032,19342396,19217095,19064572,19056816,18930199,18854109,18784351,18697861,18593767,18555223,18381582,18328480,18321493,18310677,18291376,18249391,18249372,18230658,18191888,17926161,17636279,17628551,17624337,17603052,17559842,17543956,17488788,17485437,17462637,17425826,17337470,17335955,17088539,16923748,16816803,16740653,16566934,16368745,16159935,16030171,15897891,15550498,15536161,15217995,15070957,15057824,14742691,14715867,14671316,14671196,12571168,12477932,12477536,12462075,12456604,11773638,11760020,11420127,9713320,8895659,8889695,8755541,8596488,8162013,3028714,2467567,2325025,2023927,1750488,1483695,18930217,19345350,19361798,19409547,19539911,19730683,19755162,19800062,19940443,20150576,20236105,20060112,20064870,20801125,20719830,20797901,20797903,20843948 1601180,1601181,1601183,2315637,2315638,2315652,2315639,1601182 268 NM_000479,NG_012190,AC005263,CH471139,K03474,AI791949,BC033218,BC049194 NP_000470,AAC25614,EAW69397,AAA98805,AAH49194,P03971,Q6GTN3 Hs.112432 MIF|MIS Mullerian inhibiting factor|Mullerian inhibiting substance|anti-Muellerian hormone|muellerian-inhibiting factor|muellerian-inhibiting substance protein-coding 733276 AMHR2 anti-Mullerian hormone receptor, type II 2315638,2315651,1580863,704409,70669 20362961,14750901,7493017,12462075,12834017,19539910,19424576,19064572,18697861,18310289,18230658,17988723,17636279,17337470,15489334,12477932,12477536,11588147,11549681,11420127,10874041,10589763,8940028,8889695,8872466,8572466,7488027,16344560,19457927,20236105,20734064,20864412 2315638,2315651,704409,70669 269 NM_020547,AC068889,CH471054,U29700,X89013,X91156,X91157,X91158,X91159,X91160,X91161,X91162,X91163,X91164,X91165,X91166,AF172932,AK313593,AY714878,BC126316,BC136356,CR627318,AJ572328,DB020573,NG_015981,NM_001164690,NM_001164691 NP_065434,EAW96701,AAC50328,CAA61418,CAA62593,AAD48497,AAU21221,AAI26317,AAI36357,Q16671,Q647K2,NP_001158162,NP_001158163,ADR83081 Hs.659889 AMHR|MISR2|MISRII AMH type II receptor|MIS type II receptor|MRII|Mullerian inhibiting substance type II receptor|anti-Muellerian hormone type II receptor|anti-Muellerian hormone type-2 receptor|anti-mullerian hormone type 2 receptor protein-coding 1344740 AMICA1 adhesion molecule, interacts with CXADR antigen 1 15800062,19064666,16344560,15340161,14702039,12975309,12869515,12477932,10737800,20379614 120425 NM_001098526,NM_153206,AP002800,CH471065,EF444945,AJ515553,AK057590,AK090409,AK094399,AK097285,AK298722,AK300851,AK301099,AW804077,AY093686,AY093687,AY138965,AY358362,BC100794,BC100795,BC100796,BC100797,CR596683,CR598736,CR611880,DA090367,DC296115 NP_001091996,NP_694938,EAW67354,EAW67355,ACA05929,ACA05930,CAD56620,BAC03390,BAC04347,BAG53445,BAG60876,BAG62502,BAG62698,AAM15730,AAM15731,AAN52117,AAQ88728,AAI00795,AAI00796,AAI00797,AAI00798,Q496M1,Q496M2,Q496M3,Q496M4,Q5DTC5,Q86YT9 Hs.16291 AMICA|CREA7-1|CREA7-4|FLJ37080|Gm638|JAML|MGC118814|MGC118815 adhesion molecule AMICA|adhesion molecule interacting with CXADR antigen 1|adhesion molecule that interacts with CXADR antigen 1|dendritic cell-specific protein CREA7-1|dendritic-cell specific protein CREA7-1|dendritic-cell specific protein CREA7-4|junctional adhesion molecule|junctional adhesion molecule-like protein-coding 1606525 AMIGO1 adhesion molecule with Ig-like domain 1 20383146,17207965,12629050,16710414,15489334,12477932,10574461 57463 AL355145,NM_020703,CH471122,AB032989,AK295678,AY237007,BC040879,DC317707 ADQ33120,CAI22942,NP_065754,EAW56391,BAA86477,BAG58535,AAO48948,AAH40879,Q86WK6,ACE87319,ACE86637 Hs.726479 AMIGO|AMIGO-1 alivin-2|amphoterin-induced gene and ORF|amphoterin-induced protein 1 protein-coding 736884 AMIGO2 adhesion molecule with Ig-like domain 2 12629050,12843293,15489334,15146197,15107827,14702039,12477932 347902 CN397638,BC095477,NM_181847,NM_001143668,AC004010,CH471111,AB079074,AB080610,AK091761,AK093111,AL833007,AY237005,AY454159,BC014103,BC047595 AAH95477,Q86SJ2,NP_862830,NP_001137140,EAW57923,EAW57924,BAC81188,BAC81189,BAG52413,BAG52657,CAH56293,AAO48946,AAR83271,AAH14103,AAH47595 Hs.121520 ALI1|DEGA AMIGO-2|alivin 1|alivin-1|amphoterin induced gene 2|amphoterin-induced protein 2|differentially expressed in gastric adenocarcinoma|differentially expressed in gastric adenocarcinomas|transmembrane protein AMIGO2|transmembrane protein amigo2 protein-coding 735629 AMIGO3 adhesion molecule with Ig-like domain 3 12629050,15489334,12975309,12477932,11347906,20307617 386724 NM_198722,AC099668,CH471055,AY237003,AY358134,BC101363,BC101364,BC101365,BC110418,BQ673901 NP_942015,EAW65011,AAO48944,AAQ88501,AAI01364,AAI01365,AAI01366,AAI10419,Q494V5,Q86WK7 Hs.567903 AMIGO-3|MGC120552 alivin-3|amphoterin induced gene and orf 3|amphoterin-induced gene and ORF 3|amphoterin-induced protein 3 protein-coding 1347896 AMLCR2 acute myeloid leukemia chromosome region 2 9382098 9163 1347096 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 15772651,15558565,15489334,14702039,12477932,10049589,9480748,17207965,16344560 9949 NM_001025580,NM_015365,AJ012221,AL031319,AL079334,AL359079,CH471120,AJ007014,AK001703,AK023637,AK055321,AK091430,AK314596,BC024762,BC037983,BC051895,BC060813,BC065214,BX648797,AC000113,AL137844,DA203031,NG_016469,NM_001171689 NP_001020751,NP_056180,CAB58122,CAB58123,CAI42703,CAI42704,CAI42537,CAI42538,CAI41539,CAI41540,EAX02663,CAB45546,BAG50964,BAG52359,BAG37168,AAH60813,Q9Y4X0,ADQ32993,NP_001165160 Hs.656243 AMMERC1 AMME syndrome candidate gene 1 protein|Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,|OTTHUMP00000023852 protein-coding 1605931 AMMECR1L AMME chromosomal region gene 1-like 15489334,14702039,12477932,20098747,17207965 83607 NM_031445,AC012306,CH471103,AK024993,AK026685,AK095871,AK304145,AL137415,BC004208,BC016181,BC067124,BC078174,BC084552,NM_001199140 NP_113633,EAW95346,EAW95347,EAW95348,EAW95349,BAG65038,AAH16181,AAH78174,Q6DCA0,ADQ32032,NP_001186069 Hs.546449 FLJ38552|MGC4268 AMMECR1-like protein|OTTHUMP00000162270 protein-coding 1318522 AMN amnionless homolog (mouse) The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq] 1599101,1580863 18029348,17979745,16730941,16403802,14702039,14576052,12975309,12590260,12477932,11279523,11279507,9851841,8889548,8660894 1599101 81693 NM_030943,NG_008276,AL117209,CH471061,AF328788,AK055802,AY358468,BC029948,CB306421 NP_112205,EAW81798,EAW81799,AAK28532,BAG51576,AAQ89949,Q9BXJ7 Hs.534494 PRO1028 protein amnionless|visceral endoderm-specific type 1 transmembrane protein protein-coding 1606942 AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 14702039,12477932 196394 NM_001113402,NR_004854,AC023157,CH471116,AK094708,AK123033,AK302112,AK311214,AK311249,AL833434,BC037897,BC045831,BC067906,BI464068,CR598985,CR608460,CR618732,DC394802 NP_001106873,EAW88543,EAW88544,BAH13629,AAH37897,AAH45831,AAH67906,Q8IY45 Hs.585084,Hs.591146 protein AMN1 homolog protein-coding 1344662 AMOT angiomotin This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 123345,17148452,19565639,19615732,20080965,16640563,15804419,15489334,14702039,12902404,12477932,12406577,12168954,11257132,10470851,12345,20562859,16678097,11257124,16043488,19590046,18824598,16754857,19913121,20628086 154796 NM_133265,NM_001113490,NG_012628,AC004827,CH471120,AB028994,AF286598,AK024344,AK301573,AY987378,BC039408,BC050581,BC094712,BC130294 NP_573572,NP_001106962,EAX02626,EAX02627,BAA83023,AAG01851,BAG63066,AAY24451,AAH94712,AAI30295,Q4VCS5 Hs.528051 KIAA1071 OTTHUMP00000037949|OTTHUMP00000037950|angiomotin|angiomotin p130 isoform|angiomotin p80 isoform protein-coding 1313196 AMOTL1 angiomotin like 1 The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. [provided by RefSeq] 1580863 11076863,16019084,18029348,19590046,18951430,16381901,15489336,15489334,14702039,12477932,12406577,11733531,11230166,17353931,19565639,19615732,19932912 154810 NM_130847,AP001152,AP002376,CH471065,AF453742,AK024350,AK074084,AK093699,AL137281,AL833833,BC014126,BC018449,BC037539,BC040683,BX648729,CR625258 NP_570899,EAW66943,EAW66944,EAW66945,AAL49764,BAB84910,BAC04218,CAD38693,AAH14126,AAH37539,CAH56180,Q8IY63,Q8N209,Q8TEN8,CAL38539 Hs.503594 JEAP angiomotin-like protein 1|junction-enriched and associated protein protein-coding 737053 AMOTL2 angiomotin like 2 Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motins protein family. [provided by RefSeq] 16189514,15489334,14702039,12477932,12406577,10231032,9373149,8889549,8125298 51421 AK299270,NM_016201,AC010207,CH471052,AA056579,AB023206,AF175966,AK001343,AK074731,AK091040,AK223598,AK291616,BC011454,BC025981,BU178516,CR614830 BAH12987,NP_057285,EAW79150,EAW79151,EAW79152,BAA76833,AAD56361,BAG51994,BAG52268,BAD97318,BAF84305,AAH11454,AAH25981,Q8TBR8,Q9Y2J4 Hs.426312,Hs.713601 LCCP Leman coiled-coil protein|OTTHUMP00000216466|OTTHUMP00000216530|angiomotin-like protein 2 protein-coding 735799 AMPD1 adenosine monophosphate deaminase 1 (isoform M) Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. [provided by RefSeq] 1578329,1580863 644316,19427446,19422651,19353846,19277943,19237423,18855224,18801770,18493842,18409530,18338202,18224333,17687759,17630210,17565237,17530705,17463303,17376785,16996850,16947783,16875916,16767606,16710414,16707139,16671104,16570231,16360962,16021918,16021915,15882662,15793265,15677729,15368811,15309698,15239633,15173240,15135700,14702039,12783984,12477932,12213808,12117480,11102975,11028479,10996775,10086964,9880040,9730972,9443500,8355716,8335021,7201581,6406772,6167680,2502331,2345176,1631143,1400401,1370861,16344560,19845893,19902562,19948975,20044476,8889549,19913121,20544536,20628086,20952631 1578329 270 NG_008012,NM_000036,AB125879,AB158499,AB158500,AB158502,AB160874,AB160875,AB160876,AB160877,AB160878,AL096773,CH471122,M37931,AK097077,AK291349,AK314252,BC056678,M60092,AA086476,DA826076,NM_001172626 Q6F4B5,Q6F4B6,Q6F4B7,Q6F4B8,Q6F4B9,Q6I6Y1,Q6I6Y2,Q6I6Y3,Q6PH79,AAI40300,AAI41601,NP_000027,BAD69565,BAD23974,BAD23975,BAD23977,BAD27426,BAD27427,BAD27428,BAD27429,BAD27430,CAI18828,CAI18830,EAW56606,EAW56607,AAG24258,BAF84038,BAG36918,AAH56678,AAA57281,P23109,Q5TF02,Q5W9V2,NP_001166097 Hs.89570 MAD|MADA AMP deaminase 1|AMPD|adenosine monophosphate deaminase 1|adenosine monophosphate deaminase 1 (isoform M)|adenosine monophosphate deaminase-1 (muscle)|myoadenylate deaminase|skeletal muscle AMPD protein-coding 1346106 AMPD2 adenosine monophosphate deaminase 2 (isoform L) Adenosine monophosphate deaminase-2 (EC 3.5.4.6) catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.[supplied by OMIM] 1580863 8764830,18493842,17081983,16964243,15489334,12745092,12477932,8526848,1429593,1400401,19948975,20125088 271 NM_139156,NM_004037,NM_203404,AL355310,CH471122,M91029,U16269,U16272,AK025706,AK296394,AK302939,AK308907,AK314494,BC007711,BC030217,BC075844,CR591398,S47833,U16267,U16268,U16270 NP_631895,NP_004028,NP_981949,CAI19305,CAI19306,CAI19307,EAW56396,EAW56397,EAW56398,EAW56399,EAW56400,EAW56401,AAA62126,AAA62127,AAB06511,AAC50309,AAD56302,AAD56303,BAG59062,BAG64097,BAG37094,AAH07711,AAH75844,AAA11725,AAC50306,AAC50307,AAC50308,Q01433,Q5T694 Hs.82927,Hs.727510 AMP deaminase 2|AMPD|OTTHUMP00000013371|adenosine monophosphate deaminase 2 (isoform L) protein-coding 732010 AMPD3 adenosine monophosphate deaminase (isoform E) This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq] 1300048,734568,1580863 9291127,18493842,18409530,16670071,15807549,12604357,12477932,12213808,11139257,8863347,8611627,8140814,8004104,7881427,3804327,1420359,1400401,20379614 734568 272 NM_001025389,NM_001025390,NG_012041,AC021914,CH471064,D31646,U29926,AK289998,AK294444,AK295046,AK299113,AK301507,AK302970,AK308181,AK311279,AK311436,AK311711,AK313039,BC126118,CR626009,D12775,M84720,M84721,M84722,NM_000480,DC401375,NM_001172430,NM_001172431 NP_000471,NP_001020560,NP_001020561,EAW68567,EAW68568,EAW68569,BAA06505,AAB60408,AAB60409,AAB60410,BAF82687,BAH11768,BAH11958,BAH12953,BAH13499,BAH13863,AAI26119,BAA02240,AAA58365,AAA58366,AAA58367,Q01432,A0AUX0,NP_001165901,NP_001165902,ADR83397 Hs.501890 AMP aminohydrolase|AMP deaminase 3|adenosine monophosphate deaminase (isoform E)|adenosine monophosphate deaminase 3|erythrocyte AMP deaminase|erythrocyte type AMP deaminase|erythrocyte-specific AMP deaminase|myoadenylate deaminase protein-coding 733884 AMPH amphiphysin This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. [provided by RefSeq] 1300282 20214647,19669081,9182667,18814309,18206907,16733250,16671079,15489334,15345747,14704270,14529717,12853948,12690205,12565847,12477932,12456676,12057195,12023042,11877424,11113134,10931822,10899172,10764771,10748223,10542231,9694653,9603201,9513187,9348539,9315708,9280305,9195986,9148966,8552632,8245793,8076697,7757077,1628617,9341169,12558988,15834155,16696976,20379614,16344560,7757816 1300282 273 NM_139316,NM_001635,AC007245,AC011309,AC012490,AC096581,AF099116,AF099117,AF099119,AF099120,CH236951,CH471073,AF034996,AF498092,AF498093,AF498094,AF498095,AF498096,AF498097,AK291447,BC034376,U07616,X81438,DA125756,F03887 NP_647477,NP_001626,AAS07541,AAS07391,AAS07563,AAD16283,AAD16284,AAD16285,AAD16282,EAL23989,EAL23990,EAW94110,EAW94111,AAC02977,AAM44806,AAM44807,AAM44808,AAM44809,AAM44810,AAM44811,BAF84136,AAH34376,AAA21865,CAA57197,P49418,Q8NFL3,Q8NFL4,Q8NFL5,Q8NFL6,Q8NFL7,Q8NFL8,Q9UQI2,Q9UQI3,Q9UQI4,Q9UQI5 Hs.592182 AMPH1 OTTHUMP00000207238|Stiff-Man syndrome with breast cancer 128kDa autoantigen|amphiphysin|amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)|amphiphysin I protein-coding 1343884 AMT aminomethyltransferase The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase; MIM 238300), H protein (a lipoic acid-containing protein; MIM 238330), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase; MIM 238331). Glycine encephalopathy (GCE; MIM 605899) may be due to a defect in any one of these enzymes.[supplied by OMIM] 1599106,1599107,1580863 8005589,9600239,8188235,19367581,19161160,18676680,16450403,16051266,14702039,12477932,11286506,10873393,9621520,7916605,6790577,6111451,1993704,19170196,19416867,19625176,20307617,19913121,20628086,20634891,20877624 1599106,1599107 275 NM_000481,AC104452,CH471055,D14686,AK091738,AK096062,AK290600,AK293481,AK293594,AK294592,AK296177,AK301072,BC007546,BC044792,BC094771,D13811,DC387800,GD148179,NG_015986,NM_001164710,NM_001164711,NM_001164712,NR_028435 NP_000472,EAW64984,EAW64986,BAA03512,BAG52409,BAG53206,BAF83289,BAG56972,BAG57060,BAG57780,BAG58912,BAG62678,AAH07546,AAH44792,BAA02967,P48728,Q49A62,Q96IG6,NP_001158182,NP_001158183,NP_001158184 Hs.102 GCE|GCST|GCVT|NKH OTTHUMP00000210792|OTTHUMP00000210824|aminomethyltransferase (glycine cleavage system protein t)|aminomethyltransferase, mitochondrial|glycine cleavage system T protein|glycine cleavage system protein T protein-coding 1604908 AMTN amelotin The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM] 16304441,16787391,15489334,15340161,12975309,12477932 401138 NM_212557,AC134919,CH471057,AY358528,BC121812,BC121817 NP_997722,EAX05622,AAQ88892,AAI21813,AAI21818,Q6UX39 Hs.453069 MGC148132|MGC148133|UNQ689 OTTHUMP00000219137|RSTI689|amelotin protein-coding 1353407 AMY1A amylase, alpha 1A (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 16740002,16203048,16152770,15708646,15489334,15299664,15286789,15194503,15182367,14637141,12782315,12527308,12477932,12414807,12104089,11858714,7507116,6610603,6608795,6196780,6176528,2788608,2458567,2452973,2450054,2442579,2424823,2423416,18951906,17984929,17828263,17593303,17353931,2081604,1710976,9109822 276 NM_001008221,NM_004038,NG_004750,AC105272,M18671,M18674,M18715,M18786,M19233,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,BC144452,BX487266,CB956272 NP_001008222,NP_004029,AAA58368,AAA16183,AAA52279,AAA57345,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,AAI44453,P04745,Q6NSB3 Hs.655232 AMY1|AMY1B|AMY1C 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, alpha 1a; salivary|amylase, salivary, alpha-1A|glycogenase|salivary alpha-amylase|salivary amylase alpha 1A protein-coding 1348537 AMY1B amylase, alpha 1B (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq] 17353931,16203048,16152770,15286789,12477932,6608795,6176528,2788608,2452973,2423416,2081604 277 NM_001008218,NG_004750,AL513482,AI627716,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,BC144452,CB957894,CB958435,CB958705 NP_001008219,CAI14928,CAI14929,CAI14930,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,P04745,AAI44453,Q5T084,Q5T085,AAI72291 Hs.599274,Hs.654437,Hs.655232,Hs.662103 AMY1|AMY1A|AMY1C|MGC177995 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, alpha 1b; salivary|amylase, salivary, alpha-1B|glycogenase|salivary alpha-amylase|salivary amylase alpha 1B protein-coding 1345853 AMY1C amylase, alpha 1C (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq] 2423416,16203048,17353931,15286789,12477932,6608795,6176528,2788608,2452973,2081604,12414807 278 NM_001008219,NG_004750,AL513482,AI687773,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,CB955582,CB985420,CB985730,CB987307,CD690933,BC144452 NP_001008220,CAI14932,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,P04745,AAI46451,AAI56581,AAI44453 Hs.655232,Hs.662103 AMY1|AMY1A|AMY1B 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, alpha 1c; salivary|amylase, salivary, alpha-1C|glycogenase|salivary alpha-amylase|salivary amylase alpha 1C protein-coding 732589 AMY2A amylase, alpha 2A (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq] 1300048,1580863 6336237,2788608,16152770,15648851,15571103,15489334,15304511,15286789,14718574,12477932,11914097,11772019,11376382,10769135,10091666,9373149,8528071,8193143,8125298,6610603,6608795,3260028,2458567,2452973,2450054,2423416,2081604,1284286,890964,20428766,19001184 279 NM_000699,NG_004750,AC105272,M18669,M18785,X07056,AK223463,BC007060,BC146997,M28443,CS588494 NP_000690,AAA51723,AAA52280,CAA30099,BAD97183,AAH07060,AAI46998,AAA51724,P04746,Q53F26,ABM83827,ABM87150,CAN87444 Hs.654437 AMY2|AMY2B|PA 1,4-alpha-D-glucan glucanohydrolase|alpha-amylase|amylase 1|amylase, alpha 2A; pancreatic|amylase, pancreatic, alpha-2A|found in the pancreas|glycogenase|pancreatic alpha-amylase|pancreatic amylase 2A|pancreatic amylase alpha 2A protein-coding 1319648 AMY2B amylase, alpha 2B (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq] 1580863 2401405,16152770,15489334,15286789,15252450,14702039,12477932,11408008,11376382,11347906,8268204,6608795,3260028,2788608,2701942,2458567,2452973,2081604,890964 280 NM_020978,NG_004750,AC105272,CH471097,D90097,M18670,X07057,AK095605,AK127047,BC011179,BC020861,BX456665,DQ786288,M24895 NP_066188,EAW72902,EAW72903,EAW72904,BAA14130,AAA51725,CAA30100,BAG53093,BAG54429,AAH11179,AAH20861,AAA35525,P19961 Hs.484588 AMY2 1,4-alpha-D-glucan glucanohydrolase 2B|alpha-amylase 2B|alpha-amylase carcinoid|amylase, alpha 2b; pancreatic|carcinoid alpha-amylase|glycogenase protein-coding 1348760 AMYP1 amylase, alpha pseudogene 1 15286789,6608795,2788608,2452973,2081604 281 NG_004750,AL513482 AMY2P pseudo 1605859 AMZ1 archaelysin family metallopeptidase 1 15972818,14702039,12690205,12477932,11853319 155185 AK308900,AK311182,BC146753,NM_133463,AC006028,CH236953,CH471144,AB075830,AJ635357,AK092107,AK289723,AK295842 BAG58651,AAI46754,Q400G9,NP_597720,EAL23959,EAW87269,EAW87270,EAW87271,BAB85536,CAG25749,BAG52482,BAF82412 Hs.42221 KIAA1950 OTTHUMP00000201187|archaemetzincin-1|archeobacterial metalloproteinase-like protein 1|metalloproteinase-like protein protein-coding 1605392 AMZ2 archaelysin family metallopeptidase 2 15972818,15489334,15146197,14702039,12477932,11042152,17207965,20379614 51321 NM_016627,NM_001033574,NM_001033569,NM_001033570,NM_001033571,CR596257,CR598159,CR600562,CR606649,CR609550,NM_001033572,AC005332,CH471099,AJ635358,AK090981,AK126146,AW028610,BC035935,BC050709,BC056271,BE543044,BF978559,BM450564,BQ432895,CN278872 NP_057711,NP_001028746,NP_001028741,NP_001028742,Q86W34,NP_001028743,NP_001028744,EAW89047,EAW89048,EAW89049,EAW89050,EAW89051,CAG25750,BAG52256,BAC86462,AAH50709,AAH56271,ADQ33093 Hs.293560 archaemetzincin-2|archaemetzincins-2|archeobacterial metalloproteinase-like protein 2 protein-coding 3003936 AMZ2P2 archaelysin family metallopeptidase 2 pseudogene 2 100421018 AL589931,NG_022335 pseudo 1353292 ANAPC1 anaphase promoting complex subunit 1 ANAPC1 is 1 of at least 10 subunits of the anaphase-promoting complex (APC), which functions at the metaphase-to-anaphase transition of the cell cycle and is regulated by spindle checkpoint proteins. The APC is an E3 ubiquitin ligase that targets cell cycle regulatory proteins for degradation by the proteasome, thereby allowing progression through the cell cycle.[supplied by OMIM] 1580863 18622497,18535175,16565220,15489334,15302935,15252450,14702039,14657031,12477932,11179667,11179223,10922056,10500174,10318877,18997788,12956947,11076961,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,11438673,16364912,17643375,18485873,19826416,20064487 64682 NM_022662,AC093166,CH471245,AJ278357,AK023807,AK094527,AL832013,BC005089,BC104902,BC104904,BX282336,CR623206,DQ786300,AC104651 NP_073153,EAW52095,CAC19484,BAB14687,AAH05089,AAI04903,AAI04905,Q9H1A4 Hs.436527 APC1|MCPR|TSG24 OTTHUMP00000203537|anaphase-promoting complex 1 (meiotic checkpoint regulator)|anaphase-promoting complex subunit 1|cyclosome subunit 1|mitotic checkpoint regulator|testis-specific gene 24 protein protein-coding 1318993 ANAPC10 anaphase promoting complex subunit 10 10318877,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,15489334,15144564,12477932,11524682,11230166,10922056,10827173,10498862,12956947,11739784,16364912,18485873,18997788 10393 NM_014885,AC096757,AC097649,CH471056,DQ304649,AB012109,AF132794,AL080090,BC005217 NP_055700,AAY40941,EAX05050,EAX05051,EAX05052,EAX05053,ABB96248,BAA86953,AAD30527,CAB45705,AAH05217,Q4W5I2,Q9UM13,ACE87250,ACE86568 Hs.480876 APC10|DKFZp564L0562|DOC1 OTTHUMP00000220298|OTTHUMP00000220300|OTTHUMP00000220301|OTTHUMP00000220303|OTTHUMP00000220304|anaphase-promoting complex subunit 10|cyclosome subunit 10 protein-coding 2293158 ANAPC10P anaphase promoting complex subunit 10 pseudogene 729198 NG_007660,AC105754 ANAPC10P pseudo 1343647 ANAPC11 anaphase promoting complex subunit 11 1580863 11739784,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,15489334,15256223,14702039,12477932,11573242,11042152,10922056,12956947,20826619,16712791,19690564,10230407,16364912,18485873,18997788,19826416,16341674 51529 BC171900,BF435042,BF512771,BG707824,BM845909,BU554167,BU556841,CB106395,NM_016476,NM_001002244,NM_001002248,NM_001002247,NM_001002246,NM_001002245,NM_001002249,CH471099,AF151048,AF247565,AF247789,AK091360,AK307214,BC000607,BC066308,BC095454,BC104641,BC171892,BC171898,BC171899,AC145207,AK308091 AAI71900,Q9NYG5,NP_057560,NP_001002244,NP_001002248,NP_001002247,NP_001002246,NP_001002245,NP_001002249,EAW89700,EAW89701,EAW89702,EAW89703,AAF36134,AAF65816,AAL95694,AAH00607,AAH66308,AAH95454,AAI04642,AAI71892,AAI71898,AAI71899 Hs.534456 APC11|Apc11p|HSPC214|MGC882 APC11 anaphase promoting complex subunit 11 homolog|anaphase promoting complex subunit 11 (yeast APC11 homolog)|anaphase-promoting complex subunit 11|cyclosome subunit 11|hepatocellular carcinoma-associated RING finger protein protein-coding 1346286 ANAPC13 anaphase promoting complex subunit 13 This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq] 737633 20846217,18391952,16364912,15489334,15060174,14702039,12477932,20546612,18485873 737633 25847 NR_024400,NM_015391,NR_024401,AC010207,CH471052,AF086169,AK001285,AK026550,AK290761,AL050051,BC005398,BG428689,BU852706,BX537696,CR601244 NP_056206,EAW79143,EAW79144,EAW79145,EAW79146,EAW79147,EAW79148,EAW79149,BAF83450,CAB43251,AAH05398,Q9BS18 Hs.106909 APC13|DKFZp566D193|SWM1 OTTHUMP00000216544|OTTHUMP00000216545|OTTHUMP00000216547|anaphase-promoting complex subunit 13|cyclosome subunit 13|cylosome subunit 13|homolog of yeast Swm1 protein-coding 1313636 ANAPC2 anaphase promoting complex subunit 2 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq] 1580863 16287863,16319895,9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16964243,16364912,15489334,15231748,15164053,14657031,14508008,12477932,11739784,11691822,10922056,10718198,10500174,10318877,12956947,10230407,11076961,17443186,18485873,9637688,9811605 29882 NM_013366,AL929554,CH471090,AB037827,AF191337,AK294601,BC001579,BC009487,BC032503,BC033579,BM925063,BU526961,AK296204 NP_037498,CAH72881,EAW88361,BAA92644,AAF05751,BAG57788,AAH01579,AAH09487,AAH32503,Q9UJX6,ABM81778,ABM84933,BAG58931 Hs.533262 APC2|RP11-350O14.5 anaphase-promoting complex subunit 2|cyclosome subunit 2 protein-coding 1315264 ANAPC4 anaphase promoting complex subunit 4 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. [provided by RefSeq] 1580863 6180011,9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,14702039,14684825,14657031,12477932,10922056,10500174,10318877,8889548,12956947,11076961,16364912,17554300,18485873,19826416,20686030,20966902 29945 NM_013367,AC108218,AC110812,CH471069,AF191338,AK001881,AK023597,AK292336,AL353932,AY429517,AY429518,BC059383,BI546948,CA312572,AK023562 NP_037499,EAW92839,EAW92840,AAF05752,BAG51209,BAF85025,CAB89245,AAH59383,Q9UJX5 Hs.152173 APC4 OTTHUMP00000218479|anaphase-promoting complex subunit 4|cyclosome subunit 4 protein-coding 1314558 ANAPC5 anaphase promoting complex subunit 5 This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq] 11076961,16364912,18162579,18485873,19826416,9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16861917,16319895,15761153,15489334,15302935,15082755,14702039,14657031,12956947,12477932,11401522,10922056,10500174,10318877,7566098,16169070,20686030 51433 AK301197,NM_016237,NM_001137559,AC048337,AC069209,CH471054,AA349724,AF191339,AI879332,AK025614,AK054779,AK294139,AK315451,BC001081,BC001950,BC003095,BC006301,BC034243,BC045686,BX381618,BX537687,CR597802,CR603428,CR625495 BAH13429,NP_057321,NP_001131031,EAW98259,EAW98260,EAW98261,AAF05753,BAG51422,BAG57465,AAH01081,AAH01950,AAH06301,AAH34243,AAH45686,CAD97812,Q49A41,Q9UJX4,Q9Y2B7 Hs.7101 APC5 anaphase-promoting complex subunit 5|cyclosome subunit 5 protein-coding 1344930 ANAPC7 anaphase promoting complex subunit 7 This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,16319895,15743504,15489334,14702039,14657031,12956947,12477932,10922056,10500174,10477750,10318877,9469815,9110174,8619474,18162579,18997788,11076961,11340163,19091741,18789487,16861917,16344560,16364912,18485873,19615732,19826416 51434 NM_016238,BC098362,BC099732,BC111798,BC141848,BC148236,BG105587,DB003237,AC144548,CH471054,AF191340,AK021809,AL137586,AL157481,AY007104,BC002941,BC009498,BC017316,BC040130,BC098264,BC098295,NM_001137664 NP_057322,AAH98295,AAH98362,AAH99732,AAI11799,AAI41849,AAI48237,Q2M2R1,Q4KMX6,Q69YV3,Q9UJX3,NP_001131136,EAW97909,EAW97910,EAW97911,AAF05754,BAG51054,CAB70828,CAH10690,AAH02941,AAH09498,AAH17316,AAH98264 Hs.719935 APC7 OTTHUMP00000211291|anaphase-promoting complex subunit 7|cyclosome subunit 7 protein-coding 1353092 ANCR Angelman syndrome chromosome region 282 1349500 ANG angiogenin, ribonuclease, RNase A family, 5 The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq] 1580863,2325699,2325702,2325704,2325712,2325717,2325697,2325700,2325708,2317659,2325707,2325714,2317660,2325716,2325719,2325706,2325705,2325710 20174961,11782452,9245697,10103013,2457905,9122172,2424496,2730651,2646638,17125737,2479414,16567967,15166501,11438326,12770725,11984825,9707554,15735021,10999833,15979542,16490744,15776477,3470787,3663649,16461950,19363631,19332886,19253715,19160530,19158252,18955785,18936943,18852347,18808740,18636464,18087731,17900154,17886298,17703939,17462671,17113198,16937522,16322296,15737636,15558023,15557516,15489334,15236995,15182336,15128420,15067362,15064314,14756559,14671622,14593238,12842050,12705339,12515546,12477932,12209593,12168899,11919285,11851402,11847008,11752456,11751393,11468363,11374889,10648935,9918722,9461294,9311977,8159679,8127865,7945327,3619929,2866795,2866794,2742853,2440105,2276743,1978563,10649442,7679494,1400510,16169070,17991437,19262607,19287993,19423182,19625371,19631914,20045391,20452482,20472325,8448182,16712791,20105109,17207965,20577002,20673868,20952631,21085671 2325699,2325702,2325704,2325712,2325717,2325697,2325700,2325708,2317659,2325707,2325714,2317660,2325716,2325719,2325706,2325705,2325710 283 NM_001145,NM_001097577,NG_008717,AF449647,AF449648,AF449649,AF449650,AF449651,AL163636,CH471078,M11567,AK313989,AV646929,BC020704,BC054880,BC062698,BQ773604,CB157060,CB963791,CR407633,FJ236304 NP_001136,NP_001091046,AAL67710,AAL67711,AAL67712,AAL67713,AAL67714,EAW66450,EAW66451,AAA51678,BAG36701,AAH20704,AAH54880,AAH62698,CAG28561,ACI45236,P03950,ADQ32136 Hs.283749 ALS9|HEL168|MGC22466|MGC71966|RNASE4|RNASE5 RNase 5|angiogenin|epididymis luminal protein 168|ribonuclease 5 protein-coding 1314740 ANGEL1 angel homolog 1 (Drosophila) 18029348,12508121,12477932,11943475,9872452 23357 NM_015305,AF111169,CH471061,AB018302,AK025609,AK301069,AK301589,AL137268,BC028714,DB452865 NP_056120,AAD44362,EAW81261,EAW81262,EAW81263,BAA34479,BAG62676,BAG63079,CAB70667,AAH28714,Q9UNK9 Hs.497448 FLJ60172|KIAA0759 protein angel homolog 1 protein-coding 1601837 ANGEL2 angel homolog 2 (Drosophila) 14702039,12477932,11943475 90806 NM_144567,AL592449,CH471100,AF510741,AI658922,AK022855,AK093947,AK294479,AK295116,AK299208,AK299365,AK310946,AK311276,AL079275,AY468376,BC016966,BC047469,BX103687 NP_653168,CAH71919,CAH71920,EAW93365,EAW93366,EAW93367,EAW93368,EAW93369,EAW93370,AAM44053,BAH11783,BAH11980,BAH12969,AAH16966,AAH47469,Q5VTE6,Q96AL9,BAH13016 Hs.157078 FLJ12793|KIAA0759L OTTHUMP00000035021|protein angel homolog 2 protein-coding 733136 ANGPT1 angiopoietin 1 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. [provided by RefSeq] 1626164,1643339,1643335,1643336,1601496,1643338,1643340,1626162,1626163,1626167,1626168,1626157,2313818,2293864,2293863,2293883,2313817,2293852,704373,1580863,1578337,704403,1578345,1578336,2316067,2316068,2316069,2316041 17466926,20072144,8980223,10766762,14665640,14749497,19487284,19351722,19301945,19300530,19223473,19148554,19127216,19082594,19082480,19028450,19010534,18996102,18991494,18823985,18807212,18675456,18664247,18425120,18382887,18330951,18326231,18310225,18199826,18092380,18080866,18035072,17943167,17803352,17785951,17728252,17724803,17637706,17603084,17562701,17558601,17525262,20471887,17341311,17322632,17168735,17039426,16956819,16917117,16830384,16803467,16723371,16690881,16645159,16614513,16547766,16354591,16049136,16020388,16000309,15892598,15823283,15781448,15769741,15746084,15694363,15692086,15562207,15498854,15453096,15381091,15284220,15242771,15213103,15198927,15161644,15094228,15019820,15001532,14991531,14715662,14672554,14597243,14561809,12958167,12890486,12816861,12810673,12717391,12649156,12612904,12477932,12427764,12402160,12243755,12239588,12213874,12168954,12138242,11967990,11891175,11870550,11856872,11827452,11776343,11729102,11165944,10944458,10854239,10706866,10514510,10343124,10051567,9723709,9660821,9545648,9525952,9204896,8980224,7642106,7584028,7584026,15542434,20554518,10218485,12958144,15851516,18269030,19297368,19322669,19339077,19424712,19476937,19478794,19543148,19615361,19674970,19689429,19733541,19815705,19875484,19916173,19919521,19922791,19954476,20036815,20056911,20098680,20099495,20346360,20378606,9560344,14978158,20602615,20208992 1626164,1643339,1643335,1643336,1601496,1643338,1643340,1626162,1626163,1626167,1626168,1626157,2313818,2293864,2293863,2293883,2313817,2293852,704373,1578337,704403,1578345,1578336,2316067,2316068,2316069,2316041 284 CX867178,NM_001199859,NM_001146,AC091010,AP000428,AP003480,CH471060,AB084454,AK300319,AK304717,AL700429,AW069541,AY055342,AY121504,AY124380,BC029406,BC152411,BC152419,BX648814,D13628,U83508 NP_001186788,NP_001137,EAW91909,EAW91910,EAW91911,EAW91912,BAB91325,BAG62071,BAG65481,AAL59669,AAM81745,AAM92271,AAH29406,AAI52412,AAI52420,CAI45984,BAA02793,AAB50557,Q15389,Q5HYA0,Q5YLW1,Q8N6P3,AAI66662,ACE87374,ACE86690 Hs.369675 AGP1|AGPT|ANG1 ANG-1|angiopoietin-1 protein-coding 730844 ANGPT2 angiopoietin 2 The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 2313815,2313934,2314171,2314177,2314180,2314189,2314193,2314210,1601505,1601496,2314294,2293853,2314178,2314185,2314207,2314239,2314205,2314216,2314174,2314204,2314206,1601493,2314213,2313816,2314233,2314184,2313817,1626166,2293852,1580863,1300283 18516587,16129411,9204896,10766762,19351722,19341361,19339208,19300530,19271210,19228739,19223473,19164323,19112163,19082594,19018553,19010534,18996102,18991494,18957536,18952457,18807212,18791490,18720385,18675456,18664247,18644593,18568888,18564921,18541195,20072144,20562294,19728062,20599737,20348331,20088942,18483397,18382887,18310225,18182823,18092380,18006475,17943167,17931370,17928052,17904634,17785951,17724803,17704802,17673702,17630849,17601353,17558601,17513791,17505039,17409768,17395886,17361220,17341311,17322632,17287278,17258205,17200776,17167981,17141400,17030814,17003480,16978614,16978237,16956819,16877277,16830384,16803467,16790091,16723371,16714355,16690881,16629644,16614513,16538528,16525658,16465407,16458662,16424009,16417407,16344560,16338068,16290311,16242072,16182107,16020388,16009172,15823283,15769741,15743799,15734895,15694966,15642468,15562207,15542434,15498854,15489334,15375511,15284220,15284088,15213103,15198927,15161644,15127326,15112366,15094228,15003510,15002056,14991531,14976056,14768007,14767538,14726409,14702352,14568550,14556828,14507641,12861074,12810677,12717391,12477932,12213874,12176040,12138242,11861279,11856872,11578860,11447223,10964717,10514510,10343124,10051567,9927494,9723709,9545648,9373149,8125298,12427764,15893672,12612904,20213583,18269030,19102939,19226440,19403561,19435449,19438587,19476937,19478794,19499513,19502452,19539650,19543148,19551369,19616847,19815705,19875484,19913849,19922791,19954476,20067780,20068079,20099495,20379614,20452482,9660821,20382847,20501615,20583134,20670479,20519501,20673868,17828495,20179005,20208992,20482750 2313815,2313934,2314171,2314177,2314180,2314189,2314193,2314210,1601505,1601496,2314294,2293853,2314178,2314185,2314207,2314239,2314205,2314216,2314174,2314204,2314206,1601493,2314213,2313816,2314233,2314184,2313817,1626166,2293852,1300283 285 NM_001147,NM_001118887,AC018398,AY563557,CH471153,CS322905,AB009865,AF004327,AF187858,AF218015,AJ289780,AJ289781,AK075219,AK225698,AK290070,AK310171,AK312541,BC022490,BC126200,BC126202,BC143902,CR620685,DA829327,NM_001118888 Q9HBP3,NP_001112360,NP_001138,NP_001112359,AAT69979,EAW80472,EAW80473,EAW80474,CAK96154,BAA95590,AAB63190,AAF76526,AAG17257,CAC08179,CAC08180,BAF82759,BAG35440,AAI26201,AAI26203,AAI43903,O15123,Q9H4C0,Q9H4C1,ADR83012 Hs.583870 AGPT2|ANG2 ANG-2|Tie2-ligand|angiopoietin-2|angiopoietin-2B|angiopoietin-2a protein-coding 1316792 ANGPT4 angiopoietin 4 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq] 1580863 19204726,17724803,16790085,15489334,15284220,15198927,12624729,12477932,11856872,11780052,11076863,10343124,10218486,10051567,15542434,20819778,19913121,20628086,20823154,10025962,12958144,15851516 51378 NM_015985,AL050325,AL161939,CH471133,CS322907,CS322909,AF074332,AF113708,AK304756,BC111976,BC111978 NP_057069,CAI22922,CAC09933,EAX10654,CAK96155,CAK96135,AAD31728,AAD21587,BAG65511,AAI11977,AAI11979,Q9Y264,AAI11923,AAI18496 Hs.278973 AGP4|ANG-3|ANG4|MGC138181|MGC138183 ANG-4|angiopoietin-3|angiopoietin-4|dJ824F16.2 (angiopoietin 4) protein-coding 1347249 ANGPTL1 angiopoietin-like 1 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq] 1580863 9286704,8889548,8125298,15542434,10025962,10051567,18644593,18182823,16710414,16303743,15950186,15940350,15489334,15284220,12624729,12477932,10473614,10318855,9373149,20819778 9068 AL355520,CH471067,AB056476,AF086266,AF107253,AK223467,AK300218,AY358278,BC047670,BC050640,BM710120,BX499002,CD356427,CR621065,NM_004673 NP_004664,CAC13169,CAI21921,EAW91032,EAW91033,BAB40691,AAD19608,BAD97187,BAG61986,AAQ88645,AAH50640,O95841,Q53F22 Hs.591474 ANG3|ANGPT3|ARP1|AngY|KIAA0351|UNQ162|dJ595C2.2 ANG-3|OTTHUMP00000038514|angioarrestin|angiopoietin 3|angiopoietin Y1|angiopoietin-3|angiopoietin-like protein 1|angiopoietin-related protein 1|dJ595C2.2 (angiopoietin Y1) protein-coding 733949 ANGPTL2 angiopoietin-like 2 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq] 1580863 18593905,8619474,17347581,16303743,15489334,15164053,12975309,12624729,12477932,9110174,20304962,17207965,10473614,19723494 23452 NM_012098,AL356862,CH471090,AF007150,AF125175,AK074726,AK075026,AK312876,AL598400,AY358274,BC012368 ADQ32778,NP_036230,CAI39724,CAI39725,EAW87649,EAW87650,EAW87651,EAW87652,AAD55357,BAC11164,BAC11358,BAG35727,AAQ88641,AAH12368,Q8N2J9,Q8NCH7,Q9UKU9 Hs.653262 ARP2|HARP|MGC8889 OTTHUMP00000022160|angiopoietin-like protein 2|angiopoietin-related protein 2 protein-coding 1346260 ANGPTL3 angiopoietin-like 3 The protein encoded by this gene is a member of the angiopoietin-like family of secreted factors. It is predominantly expressed in the liver, and has the characteristic structure of angiopoietins, consisting of a signal peptide, N-terminal coiled-coil domain and the C-terminal fibrinogen (FBN)-like domain. The FBN-like domain in angiopoietin-like 3 protein was shown to bind alpha-5/beta-3 integrins, and this binding induced endothelial cell adhesion and migration. This protein may also play a role in the regulation of angiogenesis. [provided by RefSeq] 1578346,2314234,1580863,1578347 20570916,20571754,20679960,18596051,18535744,18804459,18279878,18193044,18193043,18063851,16531751,16335952,15489334,15340161,12975309,12909640,12624729,12518032,12477932,10644446,12565906,11877390,17110602,19148283,19060906,19028676,17207965,20595410,20942659,19826106,20864672,19487539,19540497,19542565,19656773,19890028,20160193,20714348,20855565,20972250 1578346,2314234,1578347 27329 NM_014495,AL138847,AY569015,CH471059,AF152562,AK289426,AK315304,AY358273,BC007059,BC058287,BG562555,BG564770,CR600651,FJ515851 NP_055310,CAI22994,AAS66984,EAX06583,AAD34156,BAF82115,BAG37708,AAQ88640,AAH07059,AAH58287,Q9Y5C1,ADQ32112,ACS13743 Hs.209153 ANGPT5|FHBL2 ANG-5|angiopoietin 5|angiopoietin-5|angiopoietin-like protein 3|angiopoietin-related protein 3 protein-coding 1344384 ANGPTL4 angiopoietin-like 4 This gene is a member of the angiopoietin/angiopoietin-like gene family and encodes a glycosylated, secreted protein with a fibrinogen C-terminal domain. This gene is induced under hypoxic conditions in endothelial cells and is the target of peroxisome proliferation activators. The encoded protein is a serum hormone directly involved in regulating glucose homeostasis, lipid metabolism, and insulin sensitivity and also acts as an apoptosis survival factor for vascular endothelial cells. The encoded protein may play a role in several cancers and it also has been shown to prevent the metastatic process by inhibiting vascular activity as well as tumor cell motility and invasiveness. Decreased expression of this protein has been associated with type 2 diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq] 1578348,1625353,1625354,1580863,1578349 20595396,10698685,11953136,12707035,18029348,19342599,19270337,19246456,19074989,19060906,19028676,19019854,18974381,18940399,18809343,18634015,18442626,18433990,18394990,17322881,17130448,17068295,17049073,16531751,16303743,16272564,16081640,16049480,15870027,15837923,15579652,15489334,15190076,14583458,12975309,12594814,12477932,12438262,12015030,11940516,11852057,10866690,9373149,8125298,19826106,20829508,18599063,19542565,19628874,19878569,19890028,20162021,19913121,20628086,20660728,17207965,20664963,20729546 1578348,1625353,1625354,1578349 51129 NM_001039667,NG_012169,AC136469,CH471139,AB056477,AF153606,AF169312,AF202636,AK222489,AK222524,AK303269,AW954426,AY358275,BC023647,BG424907,CR590582,CR594816,CR602395,CR606270,CR609072,CR615250,CR615268,CR616961,CR619101,NM_139314 Q9BY76,NP_647475,NP_001034756,EAW68930,EAW68931,BAB40692,AAD41088,AAF62868,AAG22490,BAD96209,BAD96244,BAG64351,AAQ88642,AAH23647,ADQ32223 Hs.9613 ANGPTL2|ARP4|FIAF|HFARP|NL2|PGAR|pp1158 PPARG angiopoietin related protein|angiopoietin-like protein 4|angiopoietin-related protein 4|fasting-induced adipose factor|hepatic angiopoietin-related protein|hepatic fibrinogen/angiopoietin-related protein|peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein protein-coding 1351491 ANGPTL5 angiopoietin-like 5 737633 15489334,12975309,12624729,12477932 737633 253935 NM_178127,AP003383,CH471065,AK291523,AY169281,AY358827,BC049170,BC053957 NP_835228,EAW67006,BAF84212,AAO38749,AAQ89186,AAH49170,Q86XS5 Hs.318370 angiopoietin-like protein 5|angiopoietin-related protein 5|fibrinogen-like protein-coding 1322443 ANGPTL6 angiopoietin-like 6 18464913,16806062,16335952,14764539,12975309,12871997,19447061 83854 NM_031917,AC020931,CH471106,AB054064,AF230330,AY358276,BC142632,CR591845,CR617920,CR621970 NP_114123,EAW84071,EAW84072,BAB91248,AAK06404,AAQ88643,AAI42633,Q8NI99 Hs.712850 AGF|ARP5 angiopoietin-like protein 6|angiopoietin-related growth factor|angiopoietin-related protein 5|angiopoietin-related protein 6 protein-coding 1350833 ANGPTL7 angiopoietin-like 7 1580863 8026862,18421092,16710414,15489334,15340161,12975309,12477932,11682471,11426320,9727400,8144038 10218 NM_021146,AJ300188,AL049653,AL391561,CH471130,DQ012507,AK313716,AY358301,BC001881,BT009802,Y16132 NP_066969,CAC15571,CAB44734,CAI17229,EAW71685,AAY22173,BAG36459,AAQ88668,AAH01881,AAP88804,CAA76078,O43827,ABM83481,ABM86692 Hs.146559 AngX|CDT6|RP4-647M16.2|dJ647M16.1 angiopoietin-like factor (CDT6)|angiopoietin-like protein 7|angiopoietin-related protein 7|cornea-derived transcript 6 protein protein-coding 1320055 ANK1 ankyrin 1, erythrocytic Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq] 1599109,1599110,1578350,1580863 20479128,11427698,8640229,9430667,1833445,12409278,379653,18987618,18768923,17720975,17716929,16762928,16718373,15489334,15051494,15040428,17520478,17128827,12719424,12631729,12527750,12477932,12456646,12444090,12130521,12019270,11372755,11222639,10910934,10893266,9804856,9628825,9587054,9373149,9235914,9024692,8703812,8681137,8385102,8227202,8125298,7505012,6449514,2971657,2970468,2968981,2141335,2137557,1689849,492324,16580865,16962094,20379614,16597699,17207965,15929114,20858683,21099109 1599109,1599110,1578350 286 NM_020475,NM_000037,NM_020477,NM_020480,NM_020478,NM_001142445,NM_001142446,AC027702,AC113133,CH471080,S82671,U49691,U50092,U50133,AA404587,AB209418,AI167814,AI684839,AK126647,AK129864,AK223578,BC007930,BC014467,BC030957,BC117121,NM_020476,BX647936,F28948,M28880,N63745,X16609,NG_012820 NP_065209,NP_065208,NP_000028,NP_065210,NP_065213,NP_065211,NP_001135917,NP_001135918,EAW63241,EAW63242,EAW63243,EAW63244,EAW63245,EAW63246,EAW63247,EAW63248,EAW63249,EAW63250,AAB46776,AAB47804,AAB47805,BAD92655,BAG54351,BAD97298,AAH07930,AAH30957,AAI17122,AAA51732,CAA34610,CAA34611,P16157,Q53ER1,Q6PK32,Q9UMG4,AAI56402,ADQ32237 Hs.654438,Hs.667377,Hs.708861 ANK|SPH1|SPH2 ANK-1|OTTHUMP00000196863|OTTHUMP00000196864|ankyrin-1|ankyrin-R|erythrocyte ankyrin protein-coding 1317291 ANK2 ankyrin 2, neuronal This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq] 1599109,1599110,734572,1599114,1599116 20471030,15262991,15611082,18832177,18790697,18782775,18303017,18275062,18052691,17940615,17474147,17242276,17178715,17161064,17081983,16864073,16292983,16253912,15851119,15310273,15178757,15146197,15075330,14702039,14657231,14593108,12571597,12527750,12477932,11781319,11449000,11149946,10579720,9832558,8253844,7485162,1833308,1830053,2968981,15647482,19109891,20031550,20080650,20332099,20379614,16597699,19913121,20628086 1599109,1599110,734572,1599114,1599116 287 NM_001148,NM_020977,NG_009006,AC004057,AC017007,AC093617,AC093879,AC093900,AC108042,CH471057,M37123,AK095596,AK294720,AK299767,AK299815,AK299893,AK307601,AL706912,BC017986,BC125235,BC125236,BQ716903,NM_001127493,BQ890406,BX537758,BX538132,BX538239,CN259048,CR619899,X56957,X56958,Z26634 NP_001120965,NP_001139,NP_066187,EAX06287,EAX06288,EAX06289,EAX06290,EAX06291,EAX06292,AAA62828,BAH11860,BAH13122,BAH13137,BAH13164,AAI25236,AAI25237,CAD97827,CAD98033,CAD98077,CAA40278,CAA40279,CAB42644,Q01484,Q7Z307,Q7Z344 Hs.620557 DKFZp686M09125|DKFZp686P0948|FLJ38277|LQT4 ANK-2|OTTHUMP00000220392|OTTHUMP00000220393|OTTHUMP00000220397|OTTHUMP00000220398|ankyrin B|ankyrin, brain|ankyrin, nonerythroid|ankyrin-2|ankyrin-2, nonerythrocytic|brain ankyrin|brank-2|non-erythroid ankyrin protein-coding 1318779 ANK3 ankyrin 3, node of Ranvier (ankyrin G) Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Alternatively spliced variants may be expressed in other tissues. Although multiple transcript variants encoding several different isoforms have been found for this gene, the full-length nature of only two have been characterized. [provided by RefSeq] 734573,1580863 15611082,19088739,18768923,18711365,18635543,18163421,17620337,17373700,17074766,17033732,16775201,16377635,15931389,15823567,15231748,14757759,14702039,12805291,12507143,12036953,11997395,11950515,11807096,11781319,8666667,7836469,7665168,10893266,10907644,14761957,14694156,16385451,20185149,20351715,20379614,20386566,20936779,20636642,20877300,21037240 734573 288 AK295661,AL136710,BG427669,BX537917,BX648574,U13616,NM_001149,AC023904,AL359267,AL359377,AL592430,CH471083,AB209308,AK092361,AK092527,AK124230,AK126851,AK128784,AK292927,NM_020987 BAF85616,BAG58523,CAB66645,CAD97900,CAI56716,AAA64834,Q12955,Q13484,Q59G01,Q5CZH9,Q6ZT73,Q7Z3G4,Q8NAK2,Q9H0P5,ACE87550,ACE86862,NP_066267,NP_001140,CAH73232,CAI41372,CAI41373,CAI40517,CAI40518,CAI40519,CAI40520,CAI40521,EAW54199,EAW54200,EAW54201,EAW54202,BAD92545,BAG52538,BAC03910,BAG54022,BAC86721 Hs.499725 ANKYRIN-G|FLJ45464 ANK-3|OTTHUMP00000217458|OTTHUMP00000217575|ankyrin G119|ankyrin-3|ankyrin-3, node of Ranvier protein-coding 1603564 ANKAR ankyrin and armadillo repeat containing 15110750,14702039,12477932 150709 BC047413,NM_144708,AC012488,AC013468,CH471058,AJ549812,AJ605761,AK027836,AK058144,AK098551,AK126073,AK307328,BC037215,BC044907 AAH47413,Q70AK8,Q7Z5J8,Q8N7F8,Q96LK7,NP_653309,EAX10895,EAX10897,CAD71147,CAE53955,BAB71684,BAC05330,BAC86425,AAH44907 Hs.60772,Hs.655700 FLJ25415 OTTHUMP00000205619|ankyrin and armadillo repeat-containing protein protein-coding 1604469 ANKDD1A ankyrin repeat and death domain containing 1A 12477932 348094 NM_182703,AC069368,CH471082,AK075298,AK098736,AK307698,BC027350,BC042002,BC047571,BC047607,BC101273,BC101274,BC101275,BC101276,BC110610,DR004550 NP_874362,EAW77702,EAW77703,BAC11532,BAC05399,AAH27350,AAH47607,AAI01274,AAI01275,AAI01276,AAI01277,Q495B1,Q6PI29,Q8TAJ8 Hs.207157 FLJ18078|FLJ25870|MGC120305|MGC120306|MGC120307 OTTHUMP00000164131|OTTHUMP00000220561|ankyrin repeat and death domain-containing protein 1A protein-coding 2301773 ANKDD1B ankyrin repeat and death domain containing 1B 15372022,20379614 728780 XM_001128459,XM_001715633,XM_001714483,AC010245,AK307154,CH471084 XP_001128459,XP_001715685,XP_001714535,A6NHY2,EAW95766 Hs.370455 ankyrin repeat and death domain containing 1B|ankyrin repeat and death domain-containing protein 1B|ankyrin repeat and death domain-containing protein ENSP00000345065 protein-coding 1604222 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 20379614,18391950,14702039 162282 NM_153228,AC006600,AC006925,AC015724,CH471109,AK095654 NP_694960,EAW94530,EAW94531,EAW94532,BAC04599,Q8N957 Hs.673040 FLJ38335 ankyrin repeat and fibronectin type-III domain-containing protein 1 protein-coding 1320021 ANKFY1 ankyrin repeat and FYVE domain containing 1 This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq] 18029348,17273843,16344560,15328530,14702039,12477932,12168954,10940552,10574462,10092534,9373149,8125298,20562859,19615732 51479 NM_016376,NM_020740,AC087292,AC087742,CH471108,AB033081,AB037360,AB073897,AK025483,AK025717,AK025960,AK057047,AK074324,AK091008,AK225170,AK292930,AK302712,BC052308,BC060812,DA856905,CR933717 NP_057460,NP_065791,EAW90448,EAW90449,EAW90450,BAA86569,BAA90300,BAG51852,BAF85619,BAG63933,AAH52308,Q5H9P4,Q5RKV4,Q9P2R3,CAI46247,AAI48356,AAI52992 Hs.696087 ANKHZN|DKFZp686M19106|KIAA1255|ZFYVE14 Rabankyrin-5|ankyrin repeat and FYVE domain-containing protein 1|ankyrin repeat hooked to zinc finger motif|ankyrin repeats hooked to a zinc finger motif protein-coding 734405 ANKH ankylosis, progressive homolog (mouse) This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq] 734569,734571,734570,634632,734964,1580863 20646567,20358596,11326272,10894769,18821330,18299954,17950726,17563703,17403715,17186460,17147692,16724232,16344560,15818664,15780964,15489334,15474385,15461680,14702039,14558096,13130483,12975309,12707589,12632434,12477932,12297989,12297987,12185249,11326338,10997877,10610710,9915952,9382103,9373149,8528213,8125298,19369455,19419319,19449425,19888898,20231843,20379614 734569,734571,734570,634632,734964 56172 NM_054027,NG_008273,AC010491,AC016575,AC025456,CH471102,AB046801,AF274753,AK001799,AK054966,AK130676,AK222631,AK315012,AY358503,BC009835,BC014526,BQ008340,BU193060,CR613693,DA126651 NP_473368,EAX08034,EAX08035,BAB13407,AAF88039,BAG50976,BAD96351,BAG37504,AAQ88867,AAH09835,AAH14526,Q53HE9,Q9HCJ1,ABM83514,ABM86732 Hs.156727 ANK|CCAL2|CMDJ|CPPDD|FLJ27166|HANK|MANK progressive ankylosis|progressive ankylosis protein homolog protein-coding 1606539 ANKHD1 ankyrin repeat and KH domain containing 1 This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. Co-transcription of this gene and the neighboring downstream gene (EIF4EBP3) generates a transcript (MASK-BP3) which encodes a fusion protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq] 18029348,16344560,12812986,16956752,16713569,16297570,16098192,14743216,14702039,14557257,12477932,11230166,10470851,16169070 54882 AI675547,DA509209,NM_001197030,NM_017747,NM_024668,NM_017978,AC008438,AC011399,CH471062,AF217646,AF258557,AF521882,AI870943,AK000295,AK000904,AK022041,AK022433,AK024056,AK024189,AK074173,AK098574,AL136943,AY070436,BC004457,BC009420,BC009909,BC040231,BC117677,BC117678,BC127127,BC150486 NP_001183959,NP_060217,NP_078944,NP_060448,EAW62057,EAW62058,EAW62059,AAG41779,AAG23760,AAO14943,BAA91063,BAA91417,BAB13958,BAB14849,BAB84999,CAB66877,AAL65263,AAH04457,AAH09420,AAH09909,AAH40231,AAI17678,AAI17679,AAI27128,AAI50487,Q7Z586,Q8IWG5,Q8IWZ3,Q8TEF1,Q9H059,Q9H7X4,Q9NXF0,AAI72415 Hs.720987,Hs.594084 MASK|PP2500|VBARP HIV-1 Vpr-binding ankyrin repeat protein|OTTHUMP00000159882|OTTHUMP00000174758|VPR-binding ankyrin repeat protein|ankyrin repeat and KH domain-containing protein 1|hMASK|multiple ankyrin repeats single KH domain|multiple ankyrin repeats, single KH-domain homolog protein-coding 1602794 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough transcript The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring co-transcribed product of the neighboring ANKHD1 and EIF4EBP3 genes. This fusion transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this co-transcribed mRNA and the function of its protein product have not yet been determined. [provided by RefSeq] 12477932,16297570,20967262,20936779,16344560,14743216,14557257,10470851 404734 NM_020690,AC008438,AC011399,CH471062,AB029008,AF521883,DA859680 NP_065741,EAW62055,BAA83037,AAO14944,Q8IWZ2,AAI72416 Hs.594084 MASK-BP3|MASK-BP3ARF|MASK-BP3arf ANKHD1-EIF4EBP3 protein|MASK-4E-BP3 alternate reading frame|OTTHUMP00000159882|OTTHUMP00000174758 protein-coding 1316285 ANKIB1 ankyrin repeat and IBR domain containing 1 1580863 17081983,15489334,14702039,12477932,10718198,20379614 54467 NM_019004,AC000118,AC000120,AC004539,AC007566,CH236949,CH471091,AB037807,AK001179,AK025475,AK057685,AL137349,BC031483,BC041643,BC063861,BC073893,BC094865 NP_061877,EAW76852,BAA92624,BAA91537,CAB70704,AAH31483,AAH63861,AAH73893,AAH94865,Q4VBX8,Q58F08,Q9P2G1 Hs.725231 DKFZp434A0225|FLJ33123|KIAA1386 ankyrin repeat and IBR domain-containing protein 1 protein-coding 1313623 ANKK1 ankyrin repeat and kinase domain containing 1 1580863 14741327,12762588,12605103,12555236,12471243,12151753,19373123,19339270,19321766,19291230,19283474,19046929,19025655,18927395,18926547,18828801,18698520,18690118,18669994,18354387,18259088,18075468,18063936,18058350,18058343,18037170,17850642,17767146,17761687,17671965,17669630,17453061,17446975,17189962,17120049,17085484,17069991,16869231,16032443,16026865,15939106,15812318,15545020,15542731,15146457,19512960,19692168,19717274,19897017,19900188,19914044,20133381,20138949,20180986,20199723,20410875,20734064,21041608 255239 NM_178510,AF525298,AP002840,CH471065,EF444946,AF487542,AJ541797,NG_012976 NP_848605,AAM91924,EAW67216,EAW67217,ACA05931,AAQ09005,CAD62569,Q8NFD2,AAI56147,AAI72460 Hs.448473 PKK2 X-kinase|ankyrin repeat and protein kinase domain-containing protein 1|protein kinase PKK2|sgK288|sugen kinase 288 protein-coding 1353837 ANKL1 ankyrin-like 1 65976 1605878 ANKLE1 ankyrin repeat and LEM domain containing 1 16344560,15565891,14702039,12477932,20852631,20852633,20237496 126549 NM_152363,AC010463,CH471106,AK092706,AK096688,AK299977,AK303628,BC119015,BC125274,DA900798,DC410789,EU184013 NP_689576,EAW84586,EAW84587,EAW84588,BAC03953,BAC04840,BAG61800,BAG64636,AAI25275,ABW73565,Q8NAG6 Hs.721610 ANKRD41|FLJ39369|LEM3|LEMD6 LEM domain containing 6|LEM-domain containing 3|LEM-domain containing protein 3|OTTHUMP00000198604|OTTHUMP00000198605|ankyrin repeat and LEM domain-containing protein 1|ankyrin repeat domain 41|ankyrin repeat domain-containing protein 41 protein-coding 1604388 ANKLE2 ankyrin repeat and LEM domain containing 2 18029348,17081983,16964243,16344560,15489334,14702039,12477932,9734811 23141 NM_015114,AC135586,AC136467,AB014592,AK024061,AK025933,AK093451,AK293028,BC001530,BC025347,BC043157,BC062373,BC082962,DA757330,DB453975 NP_055929,BAA31667,BAG51259,BAG52720,BAF85717,AAH01530,AAH25347,AAH43157,AAH62373,AAH82962,Q86XL3 Hs.654628 FLJ22280|FLJ36132|KIAA0692|LEMD7 LEM domain containing 7|ankyrin repeat and LEM domain-containing protein 2 protein-coding 1345862 ANKMY1 ankyrin repeat and MYND domain containing 1 1580863 15489334,14702039,12477932,9373149,8125298,20379614 51281 NM_017844,NM_016552,AC124862,CH471063,AB034636,AK000506,AK056511,AK125881,AK225534,AK314534,AL136618,AL833866,BC033495,BC036111,BC041887,BC073146,CR936600,CR936759,AK296714 NP_060314,NP_057636,AAX88942,EAW71187,EAW71188,EAW71189,EAW71190,EAW71191,BAA92844,BAA91213,BAG37125,CAB66553,CAD38724,AAH33495,AAH73146,CAI56748,Q4ZFV3,Q5CZB7,Q6GPI0,Q9P2S6,ACE87543,ACE86856,ACE86879,BAH12418 Hs.656615 DKFZp686D20155|DKFZp686L21237|FLJ20499|ZMYND13 OTTHUMP00000201484|OTTHUMP00000201487|ankyrin repeat and MYND domain-containing protein 1|testis specific ankyrin-like protein 1|testis-specific ankyrin-like protein 1|zinc finger MYND domain-containing protein 13 protein-coding 1314392 ANKMY2 ankyrin repeat and MYND domain containing 2 737633,1580863 16344560,8889548,15489334,14702039,12690205,12477932 737633 57037 BU674794,DA210027,NM_020319,AC005014,AC073201,CH236948,CH471073,AK001389,AK001740,AK023704,AL050390,BC015453,BC035353,CR598118 NP_064715,EAL24286,EAW93671,EAW93672,EAW93673,EAW93674,BAG50900,BAG51218,CAH56419,AAH15453,AAH35353,Q8IV38,ACE87662,ACE86972 Hs.157378 DKFZp564O043|ZMYND20 OTTHUMP00000201684|ankyrin repeat and MYND domain-containing protein 2 protein-coding 1347651 ANKRA2 ankyrin repeat, family A (RFXANK-like), 2 1580863 11095640,15964851,15489334,14702039,12477932,10965114 57763 NM_023039,AC010279,CH471084,AF251051,AF314032,AK022876,BC012917,CR600986,CR604361,AL558295,DB543368 NP_075526,EAW95729,EAW95730,AAK34941,AAK01621,BAB14288,AAH12917,Q9H9E1,ABM82477,ABM85664 Hs.239154 ANKRA RFXANK-like protein 2|ankyrin repeat family A protein 2 protein-coding 1348352 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq] 1578366,1578370,1580863 14583192,7730328,19608031,19608030,19589340,18980987,18656235,18273862,17239933,16450059,16344560,15805281,15698842,15489334,15164054,12679596,12524226,12477932,12054667,11309420,20599664,20602615,20628624,19525294,20164196,20860623 1578366,1578370 27063 NM_014391,AF131884,AL590622,CH471066,AK290960,AU139209,AY903446,BC005191,BC018667,X83703,NG_023227 NP_055206,CAC70101,EAW50116,BAF83649,AAX23581,AAH05191,AAH18667,CAA58676,Q05DQ9,Q15327,ABM83778,ABM87098 Hs.448589 ALRP|C-193|CARP|CVARP|MCARP|bA320F15.2 ankyrin repeat domain-containing protein 1|cardiac ankyrin repeat protein|cytokine-inducible gene C-193 protein|cytokine-inducible nuclear protein|liver ankyrin repeat domain 1 protein-coding 1321439 ANKRD10 ankyrin repeat domain 10 14702039,12477932 55608 NM_017664,AL157875,AL442128,BX648721,CH471085,AK000100,AK000111,AK026017,AK094222,AK095763,AK096083,AK123341,AK124233,AK125100,BC001727,BC034813,BC039715,BX641022,CR604585 NP_060134,CAH70238,CAH73037,CAH73039,EAX09134,EAX09135,EAX09136,BAA90945,BAA90951,BAB15323,BAG53125,BAG53208,BAG53891,BAG54142,AAH01727,AAH39715,CAH56123,Q8IUW1,Q9H6D6,Q9NXQ9,Q9NXR5 Hs.525163 DKFZp686B07190|FLJ20093 ankyrin repeat domain-containing protein 10 protein-coding 1315433 ANKRD11 ankyrin repeat domain 11 ANKRD11 is a member of a family of ankyrin repeat-containing cofactors that interacts with p160 nuclear receptor coactivators (see NCOA1; MIM 602691) and inhibits ligand-dependent transcriptional activation (Zhang et al., 2004 [PubMed 15184363]).[supplied by OMIM] 18840648,17521611,17081983,15489334,15184363,14702039,12477932,11483580,19920853 29123 CH471184,AB209186,AF121775,AF130076,AK025964,AK057803,AK093762,AK125549,AK290994,AY131227,AY373756,AY533563,AC137932,NM_013275,AC092120,AC092123,BC007975,BC017437,BC025283,BC031340,BC041059,BC041585,BC052290,BC058001,BC069013,BQ957747 EAW66731,EAW66732,EAW66733,EAW66734,BAD92423,AAF24125,BAF83683,AAN07913,AAR25661,NP_037407,AAS45544,AAH41585,AAH58001,AAH69013,Q59GC3,Q6PEL2,Q6UB99,Q7Z5E5,Q8IVY9,Q9UHR3 Hs.335003 ANCO-1|ANCO1|LZ16|T13 ankyrin repeat domain-containing protein 11|ankyrin repeat-containing cofactor 1|ankyrin repeat-containing protein 11|nasopharyngeal carcinoma susceptibility protein protein-coding 1320836 ANKRD12 ankyrin repeat domain 12 18377363,16582619,15342556,15184363,14702039,12477932,10048485,20379614 23253 NM_015208,NM_001083625,AP001033,AP005263,CH471113,AB020681,AB073645,AB075493,AF147338,AF317425,AK000060,AK021430,AK024808,AK092124,AL834204,AY373757,AY533564,BC057225,BC070234,BP255733,CR605037 NP_056023,NP_001077094,EAX01609,EAX01610,BAA74897,BAE45749,AAG38609,BAA90917,BAB15014,CAH56382,AAR25662,AAS45545,AAH57225,AAH70234,Q3LIB9,Q6NSE1,Q6PG48,Q6UB98,Q9NXU3,AAI56481,AAI72538 Hs.464585 ANCO-2|ANCO1|FLJ20053|GAC-1|KIAA0874|Nbla00144 ankyrin repeat domain-containing protein 12|ankyrin repeat-containing cofactor 2|putative protein product of Nbla00144 protein-coding 1318431 ANKRD13A ankyrin repeat domain 13A 15489334,15231748,14702039,12477932,10508479 88455 NM_033121,AC007546,AC084876,CH471054,AF064604,AF155103,AK022658,AK025261,AK095130,AK130522,AK293232,AK302535,AK308923,AY364251,BC032833,BC057817,CR602264 NP_149112,EAW97891,EAW97892,EAW97893,AAC17109,AAD42869,BAG51101,BAG52990,BAG56771,BAG63807,AAQ76810,AAH32833,Q3ZTS7,Q8IZ07,Q9Y5A3 Hs.528703 ANKRD13|NY-REN-25 NY-REN-25 antigen|ankyrin repeat domain 13|ankyrin repeat domain-containing protein 13A protein-coding 1606740 ANKRD13B ankyrin repeat domain 13B 16344560,15489334,14702039,12477932,16169070 124930 NM_152345,AC104564,CH471159,AK000425,AK092673,AK097716,AK098421,BC032554,BC062597,BG029526,CR602753,DA445860 NP_689558,EAW51199,EAW51200,EAW51201,EAW51202,EAW51203,BAG52589,BAC05148,BAC05304,AAH32554,AAH62597,Q6P5X6,Q86YJ7,Q8N7H6 Hs.662164 FLJ20418|FLJ25555 ankyrin repeat domain-containing protein 13B protein-coding 1604586 ANKRD13C ankyrin repeat domain 13C 11256614,16710414,16381901,15489336,15489334,14702039,12477932,11076863,8889548,11230166,20959461 81573 NM_030816,AL158839,AL353771,AL354721,CH471059,AK074187,AL136717,BC016937,BC028840,BU622247,CD000035,CK299538 NP_110443,CAH70969,CAH70970,CAI22330,CAI22331,CAH73081,CAH73082,EAX06456,EAX06457,BAG51959,CAB66651,AAH16937,AAH28840,Q8N6S4,CAL37790,CAL38346 Hs.726269 DKFZp566D1346|FLJ14998|RP4-677H15.5|dJ677H15.3 ankyrin repeat domain-containing protein 13C protein-coding 1605234 ANKRD13D ankyrin repeat domain 13 family, member D 19913121,20628086,17081983,16713569,15489334,14702039,12477932,16344560 338692 AP001885,CH471076,NM_207354,AK027313,AK057566,AK057681,AK091614,AK096277,AK124721,AK126438,BC044239,BC110419,BC121024,BC121025,DA870287,DB460018,NR_030767 NP_997237,EAW74583,EAW74584,EAW74585,EAW74586,BAG51301,BAG51952,BAC85932,BAC86550,AAH44239,AAI10420,AAI21025,AAI21026,Q0VGC3,Q6ZTN6 Hs.438673 MGC50828 ankyrin repeat domain-containing protein 13D protein-coding 1349121 ANKRD14 ankyrin repeat domain 14 445575 1322851 ANKRD16 ankyrin repeat domain 16 15489334,15164054,14702039,12477932,17207965,20453838 54522 BC062346,BC067892,CR605844,CR608136,CR614996,CR616690,CR619405,BC017324,NM_001009943,NM_001009941,AL137186,AL596094,CH471072,AA431197,AI738771,AK093489,AK094497,AK129672,AL137614,AW470888,AW630443,NM_019046 AAH62346,Q6P6B7,NP_061919,NP_001009943,NP_001009941,CAI41072,EAW86429,CAB70843,ADQ32142 Hs.289828 ankyrin repeat domain-containing protein 16 protein-coding 1607057 ANKRD17 ankyrin repeat domain 17 This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19615732,20200953,20379614,15302935,14702039,14557257,12747765,12477932,11740861,11165478,9734811,8889548,20936779 26057 NM_032217,AC053527,AC095053,AC105757,CH471057,AB014597,AF308285,AI680274,AK025859,AK055209,AK096518,AK299046,AK300302,AK307581,AL831903,NM_198889,BC004173,BC004891,BC007747,BC009043,BC019963,BC029935,BU608983,BU687888,BX648035,CD690889,CR606613,AL833287,BC043394 NP_942592,NP_115593,EAX05654,EAX05655,EAX05656,EAX05657,EAX05658,BAA31672,AAG48253,BAB15260,BAG53312,BAG61120,BAG62055,CAD38571,AAH04173,AAH07747,AAH19963,AAH43394,O75179,AAI46383 Hs.724400,Hs.644997 FLJ22206|GTAR|KIAA0697|NY-BR-16 OTTHUMP00000219061|ankyrin repeat domain-containing protein 17|gene trap ankyrin repeat protein|serologically defined breast cancer antigen NY-BR-16 protein-coding 1352126 ANKRD18A ankyrin repeat domain 18A 14702039,12477932,16344560 253650 AL390726,AL591543,AB095935,AK093059,AK097951,AL834388,AY550933,BC056266,BC131497,BC152434,BQ787286,BX280525,DB066861,NM_147195 CAI17285,BAC23111,BAC04038,AAS57859,AAH56266,AAI52435,Q6QA70,Q8IVF6,Q8NA88,NP_671728 Hs.644630,Hs.493710,Hs.679081 FLJ35740|FLJ40632|KIAA2015|MGC176674 ankyrin repeat domain-containing protein 18A protein-coding 1351862 ANKRD18B ankyrin repeat domain 18B 12477932 441459 XM_001718334,XM_001717197,AL139008,BC009440 XP_001718386,XP_001717249,CAM15100,A2A2Z9 Hs.493710 bA255A11.3|bA255A11.5 ankyrin repeat domain 18B|ankyrin repeat domain-containing protein 18B protein-coding 1604746 ANKRD19 ankyrin repeat domain 19 15489334,15164053,14702039,12477932 138649 NR_026868,AL136981,CH471089,AK093497,AK292218,BC028712,BC038951,BC117367,BC171729,DB449690 EAW62830,EAW62831,EAW62832,EAW62833,BAF84907,AAH38951,AAI17368,AAI71729 Hs.643597 FLJ36178|bA526D8.2 pseudo 1312939 ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) ANKRD2 belongs to the conserved muscle ankyrin repeat protein (MARP) family. Expression of MARPs is induced in response to physiologic stress, injury, and hypertrophy (Miller et al., 2003 [PubMed 14583192]).[supplied by OMIM] 1580863 11444853,17206105,16344560,16021567,15677738,15489334,15164054,15136035,14702039,14583192,12679596,12477932,12004005,11972353,11453652,10873377,1204005,16385451 26287 AB058599,AJ249975,AJ304805,AJ346356,AJ583444,CH471066,AK056990,NM_001129981,AJ304804,AL355315,AL359388,NM_020349,AK314763,BC020817,BC107759,DA893829 EAW49917,BAB60958,CAB99416,CAC19412,CAE47432,EAW49916,NP_065082,NP_001123453,CAC19411,CAI15462,CAI15463,CAI14193,CAI14194,BAG37301,AAH20817,AAI07760,Q5T457,Q9GZV1 Hs.73708 ARPP|MGC104314 OTTHUMP00000020219|OTTHUMP00000020220|ankyrin repeat domain-containing protein 2|ankyrin-repeat protein|hArpp|skeletal muscle ankyrin repeat protein protein-coding 1343235 ANKRD20A1 ankyrin repeat domain 20 family, member A1 15164053,11230166,11076863,11256614,16381901,15489336 84210 NM_032250,BX649567,AL136793 NP_115626,CAH71137,CAB66727,Q5TYW2,CAL38009,AAI46682 Hs.632671 ANKRD20A|DKFZp434A171 ankyrin repeat domain 20A|ankyrin repeat domain 20a|ankyrin repeat domain-containing protein 20A1 protein-coding 1604891 ANKRD20A2 ankyrin repeat domain 20 family, member A2 15164053,12477932 441430 NM_001012421,AL773545,BX664727 NP_001012421,CAI12706,CAI39536 Hs.632663 MGC176486 ankyrin repeat domain 20 family, member A2 protein-coding 1604892 ANKRD20A3 ankyrin repeat domain 20 family, member A3 15164053,12477932 441425 NM_001012419,AL513478,BC140809,BC171793 NP_001012419,CAH72532,AAI40810,AAI71793,Q5VUR7,AAI67832 Hs.632663 MGC176486|MGC198508 ankyrin repeat domain 20A-related|ankyrin repeat domain-containing protein 20A3 protein-coding 1625837 ANKRD20A4 ankyrin repeat domain 20 family, member A4 15164053 728747 NM_001098805,CR769776,AK307323 NP_001092275,CAI95383,Q4UJ75 Hs.645502 ankyrin repeat domain-containing protein 20A4 protein-coding 2304149 ANKRD20A5 ankyrin repeat domain 20 family, member A5 15489334,15342556,12477932 440482 XM_002345102,XM_002347841,AP001004,CH471113,BC022023,BC127726,BP201899,DB446908 XP_002345143,XP_002347882,EAX01494,EAX01495,EAX01496,AAH22023,AAI27727,A0PJZ0 Hs.632352 MGC26718 Putative ankyrin repeat domain-containing protein 20A-like protein MGC26718|ankyrin repeat domain-containing protein 20A-like protein MGC26718|putative ankyrin repeat domain-containing protein 20A5 protein-coding 3539631 ANKRD20A6P ankyrin repeat domain 20 family, member A6, pseudogene 728157 AC134878,NG_022981 pseudo 4144668 ANKRD20A7P ankyrin repeat domain 20 family, member A7, pseudogene 653436 CR848007,NG_012726 pseudo 1351764 ANKRD20B ankyrin repeat domain 20B 729171 NR_003366,AC073464,AC097374,CR936649 CAI56787,Q5CZ79 Hs.456852 ANKRD20B|DKFZp686H1631 pseudo 1317302 ANKRD22 ankyrin repeat domain 22 737633 16344560,16341674,15489334,15164054,12477932,8889549,16385451,20379614,17207965,20211142 737633 118932 NM_144590,AL157394,AL353113,CH471066,CS300545,AK313969,BC021671,BM785517,DA672161,N95187 NP_653191,CAI13859,CAH72239,EAW50159,CAK32209,BAG36684,AAH21671,Q5VYY1,ADQ33206 Hs.217484 MGC22805 ankyrin repeat domain-containing protein 22 protein-coding 1321281 ANKRD23 ankyrin repeat domain 23 This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq] 1580863,2314858,2314859 15815621,15489334,15238456,14702039,14583192,12477932,12456686,10737800 2314858,2314859 200539 NM_144994,AC092636,CH471207,AF492401,AJ315766,AK057011,AK092564,AY196212,BC038584,BC107056,BF827606 NP_659431,AAY14965,EAW71331,EAW71332,EAW71333,AAO24067,CAC86120,BAB71342,BAC03915,AAO40750,AAI07057,Q86SG2,Q96MF3 Hs.643430 DARP|FLJ32449|MARP3|MGC129593 OTTHUMP00000207608|ankyrin repeat domain-containing protein 23|diabetes related ankyrin repeat protein|diabetes-related ankyrin repeat protein|muscle ankyrin repeat protein 3 protein-coding 1322819 ANKRD24 ankyrin repeat domain 24 15146197,12477932,11853319,16169070,20936779 170961 NM_133475,AC005578,AC006930,AB075861,BC028236,BI914435,BX117359,BX359277,CN286920 NP_597732,AAC33490,AAD15479,BAB85567,Q8TF21 Hs.197872 KIAA1981 ankyrin repeat domain-containing protein 24 protein-coding 1314711 ANKRD26 ankyrin repeat domain 26 17081983,16344560,15489334,15203218,15164054,14702039,12477932,10470851,20877624 22852 NM_014915,AL162272,CH471072,AB028997,AK001137,AK128577,AL137351,AL162063,BC110646,BC130453,CD626319,DA712092,DB228067 NP_055730,CAC19649,EAW86073,BAA83026,BAA91516,BAC87508,CAB70706,CAB82401,AAI10647,AAI30454,Q9UPS8 Hs.361041 MGC163325|bA145E8.1 ankyrin repeat domain-containing protein 26 protein-coding 1602441 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 12477932,11181995 124149 AC092368,AC106819,CH471092,AK125968,BC070117,BX648636,CD000265,CR749347,NR_026556 EAW82764,BAC86367,CAH18200,Q68DM0,Q6NSI1,Q6ZU59 Hs.97414 DKFZp781D1722|FLJ43980|MGC87661 pseudo 1316102 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) 737633,1580863 16525121,11256614,18477474,16381901,15498874,15489336,15489334,15231748,14702039,12477932,11230166,11076863,19745841,19913121,20628086 737633 84079 NM_032139,AC008474,AA903176,AF447882,AK054561,AL136784,AL834335,BC015552,BC045605,BC050529,BI462844 NP_115515,AAQ04657,BAB70755,CAB66718,CAD39003,AAH50529,Q96NW4,CAL38738 Hs.59236 DKFZP434L0718|DKFZp434L0718|FLJ00040|PP12899|VARP VPS9 domain-containing protein|VPS9-ankyrin-repeat protein|Vps9 domain and ankyrin-repeat-containing protein|ankyrin repeat domain-containing protein 27 protein-coding 1343361 ANKRD28 ankyrin repeat domain 28 17928403,18186651,19118547,17023142,16564677,14743216,14702039,12477932,12168954,9205841,15146197,19596235,19615732 23243 NM_015199,AC090945,AC090950,CH471055,AB002377,AI565587,AK126888,AK293770,AK295813,AK299540,AY367056,BC035170,BC048975,BC064513,BC080522,BC106948,BC113868,BC114476,BQ423818,CN313636,NM_001195098,NM_001195099 NP_056014,EAW64257,EAW64258,EAW64259,EAW64260,EAW64261,EAW64262,EAW64263,EAW64264,EAW64265,BAA20833,BAC86737,BAG57186,BAG58631,BAG61487,AAQ72374,AAI06949,AAI13869,AAI14477,O15084,Q1WWL4,Q29RW6,Q3B857,AAI66612,NP_001182027,NP_001182028 Hs.335239 KIAA0379|PITK OTTHUMP00000207863|OTTHUMP00000208043|PP6-ARS-A|ankyrin repeat domain-containing protein 28|phosphatase interactor targeting K protein|phosphatase interactor targeting protein hnRNP K|protein phosphatase 6 ankyrin repeat subunit A|serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A|serine/threonine-protein phosphatase 6 regulatory subunit ARS-A protein-coding 1317259 ANKRD29 ankyrin repeat domain 29 737633 15489334,14702039,12477932,8889548,17207965 737633 147463 NM_173505,AC010853,CH471088,AK057782,AK123197,AK313667,BC030622,BM680506 NP_775776,EAX01159,EAX01160,BAB71569,BAC85555,BAG36419,AAH30622,Q8N6D5,ADQ31854 Hs.374774 FLJ25053 ankyrin repeat domain-containing protein 29 protein-coding 1350593 ANKRD30A ankyrin repeat domain 30A 1580863 15164054,11280766,18029348,19043545,18464913,18041742,17903294,17536312,17330232,16675566,16335914,15342556,16385451 91074 NM_052997,AC067744,AL157387,AL357148,CH471072,AF269087,BP312910,DN831985 NP_443723,CAH71319,CAH71320,CAI16567,CAI16568,EAW85904,AAK27325,Q9BXX3,AAI72447 Hs.373787 NY-BR-1|RP11-20F24.1 OTTHUMP00000019458|ankyrin repeat domain-containing protein 30A|breast cancer antigen NY-BR-1|serologically defined breast cancer antigen NY-BR-1 protein-coding 1354207 ANKRD30B ankyrin repeat domain 30B 12477932,11280766 374860 AADB02020312,AADB02020314,AADB02020315,AADB02020317,NM_001145029,AP005121,AP006507,AP006564,AP006565,CH471277,AF269088,AK294693,BC028407 NP_001138501,EAW53959,AAK27326,BAG57852,Q9BXX2 Hs.567889 NY-BR-1.1 ankyrin repeat domain-containing protein 30B|breast cancer antigen NY-BR-1.1|serologically defined breast cancer antigen NY-BR-1.1 protein-coding 1354086 ANKRD31 ankyrin repeat domain 31 14702039 256006 NM_001164443,AC008769,AC093259,AK097510 NP_001157915,BAC05081,Q8N7Z5 Hs.482533 FLJ40191 ankyrin repeat domain-containing protein 31 protein-coding 1312535 ANKRD32 ankyrin repeat domain 32 15632077,12477932,11230166 84250 DR001089,NM_032290,AC008534,CH471084,AK309859,AL050298,AL136560,BC054885,BC063674,BC070332,BC107571,BU431750,CR533539,CR936768,AC025766,AK297452,AK299080,BC015315 Q9BQI6,ACE87625,ACE86937,NP_115666,EAW96026,EAW96027,EAW96028,EAW96029,CAB43397,CAB66495,AAH54885,AAH63674,AAH70332,AAI07572,CAG38570,BAG59876,BAG61145 Hs.657315 BRCTD1|BRCTx|DKFZp564C0469|DKFZp761C121 BRCT domain containing 1|BRCT domain-containing protein 1|ankyrin repeat domain-containing protein 32 protein-coding 1344617 ANKRD33 ankyrin repeat domain 33 12477932,16541075,14702039,21107309 341405 AF517117,AF517118,AF517119,AF517120,AK125517,BC121152,BC121153,BX537908,BX640656,BX647684,BX649168,NM_001130015,AC025259,CH471111,AF517108,AF517109,AF517110,AF517111,AF517112,AF517113,AF517114,AF517115,AF517116,NM_182608 AAQ07995,AAQ07996,AAQ07997,AAQ07998,BAC86190,AAI21153,AAI21154,CAD97893,CAE45798,Q0VAA8,NP_872414,NP_001123487,EAW58207,EAW58208,EAW58209,EAW58210,AAQ07989,AAQ07990,AAQ07991,AAQ07992,AAQ07993,AAQ07994,Q5K617,Q5K618,Q5K620,Q5K625,Q5K626,Q7Z3H0 Hs.433492 C12orf7|DKFZp686O1689 ankyrin repeat domain-containing protein 33 protein-coding 2307384 ANKRD33B ankyrin repeat domain 33B 15372022,14702039 651746 NM_001164440,AC106760,AC112200,AK023999,BC018597 NP_001157912,A6NCL7 Hs.26039 Ankyrin repeat domain-containing protein LOC651746|ankyrin repeat domain-containing protein 33B protein-coding 1347090 ANKRD34A ankyrin repeat domain 34A 14702039 284615 NM_001039888,AL160282,AK094282,AK128050,AL359622 NP_001034977,BAG52855,BAG54622,CAH10676,Q69YU3 Hs.620591 ANKRD34|DKFZp761F202 ankyrin repeat domain 34|ankyrin repeat domain-containing protein 34A protein-coding 1604706 ANKRD34B ankyrin repeat domain 34B 12477932,15358210 340120 NM_001004441,AC008434,AC018764,CH471084,BC137441,BC137442,BC142957,CR749535 NP_001004441,EAW95857,EAW95858,AAI37442,AAI37443,AAI42958,CAH18341,A5PLL1,AAI43088,AAI43089,ACE86934 Hs.519404 DP58 OTTHUMP00000222289|ankyrin repeat domain-containing protein 34B|cytosolic phosphoprotein DP58|dendritic phosphoprotein 58 kDa protein-coding 2291762 ANKRD34C ankyrin repeat domain 34C 14702039 390616 NM_001146341,AC011797,AK090665,AK127037,AL109678 NP_001139813,P0C6C1 Hs.531231 FLJ33346|FLJ45093 ankyrin repeat domain-containing protein 34C protein-coding 1352290 ANKRD35 ankyrin repeat domain 35 16710414,16344560,15489334,14702039,12477932,12107411 148741 NM_144698,AL160282,CH471244,AK057853,AK091120,AK294308,AK296861,AW245831,BC101618,BC101620,BQ636616,CR621087,DA399526 NP_653299,EAW71426,EAW71427,BAB71597,BAC03587,BAG57587,BAG59424,AAI01619,AAI01621,Q8N283 Hs.710624 FLJ25124|MGC126667|MGC126669 ankyrin repeat domain-containing protein 35 protein-coding 1342961 ANKRD36 ankyrin repeat domain 36 737633 16344560,15815621,15489334,14702039,12975309,12477932,10997877,8889548,17207965 737633 375248 NM_001164315,AC018892,AC160020,CH471207,AB046861,AF543495,AK090926,AK304740,AK307629,AK316541,AY358571,BC046186,DA952980,DB516113,DW413497,BC128262,BC128517,BC146835,BX647769 NP_001157787,AAY14642,EAW71306,EAW71307,BAB13467,AAN40505,BAG65500,BAH14912,AAQ88934,AAH46186,A6QL64,ADQ33052,AAI28263,AAI28518,AAI46836 Hs.541894 FLJ33607|KIAA1641|MGC167812|UNQ2430 OTTHUMP00000207832|ankyrin repeat domain-containing protein 36|ankyrin repeat domain-containing protein 36A|ankyrin-related protein-coding 1352925 ANKRD36B ankyrin repeat domain 36B 737633 16344560,15489334,14702039,12477932,12107410,10997877 737633 57730 BC071771,BC125132,BC125133,BM511319,CA394381,CR741521,DB105321,DB353103,DR001190,AC017099,AC073995,AC159540,CH878726,AF432208,AF432209,AK024934,AK056042,AK074570,BC017427,BC031883,BC038460,BC044844,NM_025190 AAI25133,AAI25134,Q8N2N9,Q8TDH5,NP_079466,AAY24080,EAW53903,EAW53904,EAW53905,EAW53906,EAW53907,EAW53908,AAL99915,AAL99916,BAB15039,BAB71081,BAC11066,AAH31883,AAH44844 Hs.532921,Hs.541894 FLJ21281|FLJ90089|KIAA1641|MGC149864|MGC149865|MGC167812 CLL-associated antigen KW-1|OTTHUMP00000161108|ankyrin repeat domain 36B|ankyrin repeat domain-containing protein 36B|kiaa1641|melanoma-associated antigen protein-coding 2303683 ANKRD36BL1 ankyrin repeat domain 36B-like 1 (pseudogene) 16344560,12477932,16189514 84832 NR_026844,AL009051,BC007072,DA219755,DA246884,DB229590 CAI22641,Q96IX9 Hs.537067 ANKRD26L1|ANKRD36BL1|MGC12538 pseudo 4144543 ANKRD36BP2 ankyrin repeat domain 36B pseudogene 2 12477932,14702039 645784 AC096579,AK097649,AL137717,BC031698,BX537549,BX648045,CR596262,NR_015424 Hs.105323 DKFZp434J1630|DKFZp686E1246|DKFZp686O04183|FLJ40330 pseudo 3378225 ANKRD36P1 ankyrin repeat domain 36 pseudogene 1 100132420 AADB02037628,AC013734 pseudo 1604164 ANKRD37 ankyrin repeat domain 37 15809689,15489334,12477932,19491311 353322 NM_181726,AC106897,CH471056,AK303243,AY296056,BC088376 NP_859077,EAX04647,EAX04648,BAG64328,AAP50252,AAH88376,Q7Z713 Hs.508154 Lrp2bp|MGC111507 ankyrin repeat domain-containing protein 37|hLrp2bp|low density lipoprotein receptor-related protein binding protein|low-density lipoprotein receptor-related protein 2-binding protein protein-coding 1602717 ANKRD39 ankyrin repeat domain 39 16344560,15815621,15592455,15489334,12477932,11042152,17207965 51239 NM_016466,AC092636,CH471207,AF151034,AK312193,BC031303,BU626151,BX091421,DA769410 NP_057550,AAY14966,EAW71328,EAW71329,EAW71330,AAF36120,BAG35126,AAH31303,Q53RE8,ADQ32451 Hs.709507 MGC41816 OTTHUMP00000207740|ankyrin repeat domain-containing protein 39 protein-coding 1602991 ANKRD40 ankyrin repeat domain 40 19913121,20628086,15489334,12477932,17207965 91369 NM_052855,AC005921,CH471109,AK314010,BC005853,BC012978,CR616806,CR627413,EU164539,CR620109 NP_443087,EAW94589,BAG36721,AAH12978,CAH10502,ABW05020,Q6AI12,ADQ32683 Hs.463426 DKFZp451K241|MGC15396 ankyrin repeat domain-containing protein 40 protein-coding 1605233 ANKRD42 ankyrin repeat domain 42 17123353,15489334,14702039,12477932 338699 NM_182603,AP000873,CH471076,AK095193,AK310765,BC045621,BC062729,BC171752,BX648690,CA447533,DQ508815,DQ508934,EF041819 NP_872409,EAW75086,EAW75087,BAC04496,AAH45621,AAH62729,ABF60230,ABF57994,ABL09300,Q6P5R7,Q8N9B4 Hs.503438,Hs.657164 FLJ37874|SARP ankyrin repeat domain-containing protein 42|several ankyrin repeat protein protein-coding 1602435 ANKRD43 ankyrin repeat domain 43 15489334,14702039,12477932 134548 NM_175873,AC004775,CH471062,AK090823,AK092782,AW450551,BC104771,BC104775,BF437580,BF967159,BM967275,DB481577,DN949321 BAC03975,NP_787069,EAW62313,EAW62314,AAI04772,AAI04776,Q2M3V2 Hs.13308 ankyrin repeat domain-containing protein 43 protein-coding 1605602 ANKRD44 ankyrin repeat domain 44 16555005,18186651,19240061,15489334,14702039,12477932,19596235,20379614 91526 NM_153697,AC013264,AC017035,CH471063,AK097086,AK124039,AK301209,AL133087,BC016985,BC050586,BC063622,AI439698,NM_001195144,AK021632 NP_710181,AAX93155,AAY15060,EAW70141,EAW70142,BAC04946,BAH13433,CAB61404,AAH16985,AAH50586,AAH63622,Q53T07,Q8N8A2,NP_001182073 Hs.432706 FLJ11570|MGC21968|MGC70444|PP6-ARS-B OTTHUMP00000205625|OTTHUMP00000205626|PP6-ARS-B|ankyrin repeat domain-containing protein 44|protein phosphatase 6 ankyrin repeat subunit B|serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B|serine/threonine-protein phosphatase 6 regulatory subunit ARS-B protein-coding 1606657 ANKRD45 ankyrin repeat domain 45 12477932,16710414,14702039 339416 NM_198493,AL139142,BX248409,CH471067,AK127170,BC029866,BC126353,BC126355 NP_940895,CAI20937,CAH72999,EAW90950,BAC86865,AAI26354,AAI26356,Q5TZF3,ADR82913 Hs.130054 CT117|FLJ45235|MGC161631|MGC161633|RP3-436N22.4 OTTHUMP00000038346|ankyrin repeat domain-containing protein 45|cancer/testis antigen 117 protein-coding 1606443 ANKRD46 ankyrin repeat domain 46 21041692,15489334,14702039,12477932,9110174,8619474 157567 NM_198401,AP000424,CH471060,AB077205,AK095235,AL832842,BC015811,BC035087,BC050396,BC060843,CR591950,CR607125,CR623732,U79297 NP_940683,EAW91808,EAW91809,EAW91810,EAW91811,BAD23947,BAG53011,CAI46169,AAH50396,AAH60843,Q86W74 Hs.700353 ANK-S|ankyrin repeat domain-containing protein 46|ankyrin repeat small protein protein-coding 1606551 ANKRD49 ankyrin repeat domain 49 15489334,14702039,12477932,11371508,11162141,16131492,19773279,17207965 54851 NM_017704,AP000786,AP000943,CH471065,AF025354,AK000196,AK000448,AK057696,AL833977,BC017798,BG025192,CR609043 NP_060174,EAW66935,EAW66936,AAK60412,BAA91003,CAD38821,AAH17798,Q8WVL7,ACE87163,ACE86482,ADQ32155 Hs.29052 FGIF|FLJ20189|FLJ20441|GBIF ankyrin repeat domain-containing protein 49|fetal globin-inducing factor protein-coding 1312470 ANKRD5 ankyrin repeat domain 5 1580863 14702039,12477932,11780052,20211142 63926 NM_022096,NM_198798,AL109754,CH471133,AK025322,AK074463,AK097689,BC011591,BC022878,BC028189,BI562273,BI826033,HI573924,HI573926 NP_071379,NP_942093,CAB87618,EAX10355,BAB15111,BAG53512,AAH22878,Q8TCA8,Q9NU02,ABM81831,ABM84984,CBX47451,CBX47452 Hs.70903 FLJ21669|dJ839B4.6 OTTHUMP00000030263|ankyrin repeat domain-containing protein 5 protein-coding 1603620 ANKRD50 ankyrin repeat domain 50 14702039,12477932,10574462 57182 NM_020337,AC105421,CH471056,AB033049,AF075020,AK091516,AK127496,AK291068,AK295135,AL110131,BC024725,BE887185,BX508307,BX640674,CD359799,AA628892,CX871714,NM_001167882,CR591248 NP_065070,EAX05206,BAA86537,BAC87007,BAF83757,BAG58158,AAH24725,CAE45806,Q8TB46,Q9ULJ7,NP_001161354 Hs.480694 KIAA1223 OTTHUMP00000220149|ankyrin repeat domain-containing protein 50 protein-coding 1601705 ANKRD52 ankyrin repeat domain 52 18186651,16964243,16541075,14702039,12975309,12477932,19913121,20628086,19596235,19615732 283373 NM_173595,AC073896,CH471054,AB190990,AK056831,AK125379,AK126893,AY358160,BC024309,BC042070,DR002390 NP_775866,EAW96919,BAG16262,BAG54192,AAQ88527,Q6UXY5,Q8NB46 Hs.524506 ANKRD33|FLJ34236 CVWG5837|PP6-ARS-C|ankyrin repeat domain 33|ankyrin repeat domain-containing protein 52|protein phosphatase 6 ankyrin repeat subunit C|serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C|serine/threonine-protein phosphatase 6 regulatory subunit ARS-C protein-coding 1605329 ANKRD53 ankyrin repeat domain 53 16344560,15489334,14702039,12477932 79998 NM_024933,NM_001115116,AC007040,CH471053,AK022118,AK093479,BC035234,CR604385,DB036445 NP_079209,NP_001108588,EAW99786,EAW99787,EAW99788,EAW99789,BAC04181,AAH35234,Q8N9V6 Hs.512744 FLJ12056|FLJ36160 OTTHUMP00000203459|OTTHUMP00000203460|ankyrin repeat domain-containing protein 53 protein-coding 1605877 ANKRD54 ankyrin repeat domain 54 15489334,15461802,14702039,12477932,10591208 129138 NR_036556,CD300696,NM_138797,CH471095,Z97630,AK127583,BC014641,BC066909,CR456471,CR592145,CR595513,CR600489,CR610061,CR617257,CR626329,BX401122 NP_620152,EAW60192,EAW60193,EAW60194,CAB63057,BAC87043,AAH14641,AAH66909,CAG30357,Q6NXT1 Hs.135259 LIAR OTTHUMP00000198182|OTTHUMP00000198183|OTTHUMP00000198184|OTTHUMP00000198186|ankyrin repeat domain-containing protein 54 protein-coding 4889255 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 100419962 AL358394,NG_025432 pseudo 1605952 ANKRD55 ankyrin repeat domain 55 16344560,15489334,15372022,14702039,12477932,20453842,20595579,20211142,20973039,20080650 79722 NM_024669,AC016585,AC016638,CH471123,AK021857,AK123389,AW269928,BC106914,BC106915,DA292581 NP_078945,EAW54941,BAB13916,BAG53900,AAI06915,AAI06916,Q3KP44 Hs.436214 FLJ11795|MGC126013|MGC126014 OTTHUMP00000221878|OTTHUMP00000221879|ankyrin repeat domain-containing protein 55 protein-coding 1605533 ANKRD56 ankyrin repeat domain 56 12477932 345079 NM_001029870,BC137241,BC137255 NP_001025041,AAI37242,AAI37256,A6NEL2 Hs.257292 ankyrin repeat domain-containing protein 56 protein-coding 1349983 ANKRD57 ankyrin repeat domain 57 15489334,15815621,16964243,14702039,12477932 65124 NM_023016,AK023346,AK025523,BC036652,BC066772,CR622761,AC011753,AC140485,CH471182 BAB15161,AAH36652,Q53LP3,NP_075392,AAY24292,AAY24143,EAW53857 Hs.355455 C2orf26|c2orf26 ankyrin repeat domain-containing protein 57|chromosome 2 open reading frame 26 protein-coding 3476309 ANKRD57P1 ankyrin repeat domain 57 pseudogene 1 100131984 AC134878,NG_022994 pseudo 1606099 ANKRD58 ankyrin repeat domain 58 15772651 347454 NM_001105576,AC005052,CD368490,CR593492 NP_001099046,A6NJG2 Hs.355223 ankyrin repeat domain-containing protein 58 protein-coding 1317569 ANKRD6 ankyrin repeat domain 6 20736409,17592114,14702039,14574404,12477932,12203740,12183362,10231032,8889548,19591803 22881 GU727626,NM_014942,AL096678,AL136971,AL138717,AL159174,CH471051,AB023174,AK021550,AK074189,AK092235,AK096867,AK295731,AK307792,AL117504,BC001078,BC042173,BM974140,CR608573,DN999929 ADU87628,NP_055757,CAI42280,CAI42281,EAW48550,EAW48551,EAW48552,EAW48553,BAA76801,BAG52502,BAG53385,BAH12168,CAB55968,AAH01078,AAH42173,Q9BVM3,Q9Y2G4 Hs.702213 DIVERSIN OTTHUMP00000016856|ankyrin repeat domain-containing protein 6|diversin protein-coding 1315900 ANKRD60 ankyrin repeat domain 60 19913121,20628086,11780052,19893584 140731 XM_001134442,XM_001134462,XM_001717339,AL354776,CH471077 XP_001134442,XP_001134462,XP_001717391,CAI94996,EAW75502,Q9BZ19 C20orf86|bA196N14.3 OTTHUMP00000031385|ankyrin repeat domain-containing protein 60|chromosome 20 open reading frame 86 protein-coding 2302254 ANKRD62 ankyrin repeat domain 62 342850 XM_292717,XM_942193,XM_001715728,AP002414,CH471113,BX648696,BX649021,XM_003118756,XM_003119697,XM_003120904 XP_292717,XP_947286,XP_001715780,EAX01557,A6NC57,EAX01556,XP_003118804,XP_003119745,XP_003120952 Hs.448906 DKFZp686E2239|DKFZp779B1634 ankyrin repeat domain-containing protein 62 protein-coding 1352130 ANKRD7 ankyrin repeat domain 7 1580863 8812458,15489334,15342556,12853948,12477932,9847074,16169070 56311 NM_019644,AC004029,AC006389,AC007874,CH236947,CH471070,AA435914,AI126287,AI149744,AK302407,BC007020,BC032799,BP369869,D78334,DB442002,DB447815 NP_062618,AAB97503,AAF19231,EAW83538,EAW83539,BAG63717,AAH07020,AAH32799,BAA11348,Q92527,Q9UPM1 Hs.655046 TSA806 OTTHUMP00000211149|OTTHUMP00000211150|ankyrin repeat domain-containing protein 7|testis-specific ankyrin motif containing protein|testis-specific protein TSA806 protein-coding 1316983 ANKRD9 ankyrin repeat domain 9 15489334,12508121,12477932 122416 NM_152326,AL136293,CH471061,AK291868,BC015422,BC027479,BX161460,CR592710,CR595580,CR602541,CR609368,CR616439,CR621329 NP_689539,EAW81791,EAW81792,BAF84557,AAH15422,AAH27479,CAD61921,Q96BM1,ABM82613,ABM85797 Hs.432945 MGC21990 ankyrin repeat domain-containing protein 9 protein-coding 1319381 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 19913121,20546612,20628086,20659327,10958799,20379614,15324660,17353931,18391951,15500253,15489334,15345747,15302935,14574404,12477932,12439753,9039502,8889548,15778465 23294 NM_015245,AL033520,AL138721,AL591002,CH471081,AK025381,AK298987,BC022396,BC031934,BC049213,BC132832,BC144341,BF592042,BQ216321,BU676295,BX094969,CR625673,D86982 NP_056060,CAI20281,CAI12437,CAI15138,EAX03800,EAX03801,EAX03802,EAX03803,EAX03804,BAG61080,AAH22396,AAH31934,AAI32833,BAA13218,Q05CP0,Q49AR9,Q92625 Hs.656492 ANKS1|KIAA0229|MGC42354 Odin|ankyrin repeat and SAM domain containing 1|ankyrin repeat and SAM domain-containing protein 1A protein-coding 1602104 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 19913121,20578947,20628086,16386788,15862129,15347684,15004329,12837293,12700034,12508107,12477932,12415113,10490826,20966902,21107309,16537434,19666031,19721433,19851462,20161521,20379614 56899 NM_020140,NM_181670,AC008126,AC011248,AC021653,AC048330,AC069437,AC078916,AC079954,AC084374,AC117377,AC126616,AC141554,AC141555,AC141556,AF145204,AF164792,AK124453,AK289768,AK294191,AK294994,AK295988,AK315954,AM980945,AY281131,AY281132,AY283057,AY356353,NM_152788,AY620824,AY753193,BC026313,BC068451,BC091512,BC142669,BC150204,BG338019,BQ614098,BU568171,CR602042,CR624934,D80328 NP_690001,NP_064525,NP_858056,AAD33951,AAF80756,BAF82457,BAG57507,BAG58059,BAG58763,BAH14325,CAQ37746,AAP37612,AAP37613,AAP38184,AAQ56189,AAT39519,AAV28691,AAH26313,AAH68451,AAI42670,AAI50205,Q6V0K8,Q7Z6G8,AAI60005 Hs.506458 AIDA|AIDA-1|ANKS2|EB-1|EB1|MGC26087|cajalin-2 E2a-Pbx1-associated protein|amyloid-beta precursor protein intracellular domain associated protein 1|amyloid-beta protein intracellular domain-associated protein 1|ankyrin repeat and sterile alpha motif domain-containing protein 1B|cajalin 2 protein-coding 1604545 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 16964243,16713569,14702039,12477932,11853319,17081983 124401 NM_133450,AC020663,AC023830,CH471112,AB075857,AK056907,AK057329,AK123371,AK123496,AK301683,BC032314,BC050387,CR624377 NP_597707,EAW85269,EAW85270,EAW85271,EAW85272,EAW85273,EAW85274,EAW85275,BAB85563,BAG51903,BAC85597,BAC85629,BAG63156,AAH50387,Q6ZW76,Q86W77 Hs.654859 FLJ32345|FLJ32767|KIAA1977 ankyrin repeat and SAM domain-containing protein 3 protein-coding 1606413 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B 15461667,14702039,12588794,12477932 257629 NM_145865,AF001550,CH471228,AK096138,BC111784,BC112368 NP_665872,EAW66861,BAC04707,Q8N8V4,AAI60087 Hs.115959 FLJ38819|HARP|MGC133380|MGC133381 ankyrin repeat and SAM domain-containing protein 4B|harmonin-interacting ankyrin repeat-containing protein|harmonin-interacting ankyrin-repeat containing protein protein-coding 1319654 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 18029348,18978678,18434273,15489334,15164053,14702039,12477932 203286 AL353782,AL807776,CH471105,DQ309777,DQ309778,DQ309779,DQ309780,DQ309781,DQ309782,DQ309783,DQ309784,DQ309785,DQ309786,DQ309787,DQ309788,DQ309789,DQ309790,DQ309791,AK074328,AK094247,AK126614,AK127702,BC012981,BC064367,CR625196,CR749467,NM_173551,CR749472 NP_775822,CAH71295,CAH71296,CAM14169,CAH69985,CAH69986,CAM13062,EAW58892,EAW58893,EAW58894,EAW58895,ABC48694,BAC04317,BAG54553,AAH64367,CAH18298,CAH18302,Q68DC2 Hs.406890 ANKRD14|DKFZp686D24121|DKFZp781I0117|MGC70366|SAMD6 OTTHUMP00000021780|SAM domain-containing protein 6|ankyrin repeat and SAM domain-containing protein 6|ankyrin repeat domain 14|ankyrin repeat domain-containing protein 14|samCystin|sterile alpha motif domain containing 6|sterile alpha motif domain-containing protein 6 protein-coding 1602704 ANKZF1 ankyrin repeat and zinc finger domain containing 1 17081983,16964243,16344560,16169070,15489334,14702039,12477932,9373149,8125298 55139 NM_018089,NM_001042410,AC068946,CH471063,AF364318,AK001277,AK023206,AK056060,AK095304,AK098282,AK225275,AK225309,AK303077,AK303537,BC000238,BC008948,BC028334,CR601291,CR618990,DA226194,DA899467,DQ412564 NP_060559,NP_001035869,EAW70708,EAW70709,EAW70710,BAA91596,BAB14462,BAG64193,BAG64563,AAH00238,AAH08948,ABD65410,Q9H8Y5 Hs.437647 FLJ10415|FLJ13144|ZNF744 OTTHUMP00000205942|ankyrin repeat and zinc finger domain-containing protein 1|zinc finger protein 744 protein-coding 1320339 ANLN anillin, actin binding protein 1580863 10931866,18158243,17081983,16964243,16357138,16203764,16129829,16040610,15800069,15635413,15616196,15496454,15489334,15302935,14702039,12637748,12479805,12477932,17643375,19995712 54443 NM_018685,AC006960,CH236951,CH471073,AF273437,AK001468,AK001472,AK023208,AK094574,AK291254,AK299803,BC034692,BC070066,BQ434804,BU630923,CR936650,BE885510,CS401486 NP_061155,EAW94067,EAW94068,EAW94069,EAW94070,EAW94071,EAW94072,AAF75796,BAA91710,BAA91711,BAB14463,BAF83943,BAG61678,AAH34692,AAH70066,CAI56788,Q9NQW6,CAL40337 Hs.62180 DKFZp779A055|Scraps|scra actin-binding protein anillin protein-coding 1321890 ANO1 anoctamin 1, calcium activated chloride channel 737633 19372102,19606013,19654323,19687122,19773279,19819874,19823864,21092923,19015192,19011564,18772398,18724360,18648740,15067359,14702039,12739008,12477932,20716167,20716168,19913121,20628086 737633 55107 DB445158,DB450993,NR_030691,NM_018043,AP000879,CH471076,AI694083,AK001123,AK097619,AK293088,AK303971,AL833582,AY728143,BC027590,BC033036,CF593428 NP_060513,EAW74757,EAW74758,EAW74759,BAA91513,BAC05123,BAF85777,BAH14087,AAU82085,AAH27590,AAH33036,Q5XXA6,Q8NCT7,Q9NW72 Hs.503074 DOG1|FLJ10261|ORAOV2|TAOS2|TMEM16A anoctamin-1|discovered on gastrointestinal stromal tumors protein 1|oral cancer overexpressed 2|oral cancer overexpressed protein 2|transmembrane protein 16A (eight membrane-spanning domains)|tumor amplified and overexpressed sequence 2|tumor-amplified and overexpressed sequence 2 protein-coding 1605667 ANO10 anoctamin 10 19015192,14702039,12477932 55129 NM_018075,AC097638,AC104184,AC105903,AC135852,CH471055,AA252209,AK096302,AK131223,AK292368,AK295969,AK297949,AL832508,BC038855 NP_060545,EAW64695,EAW64696,EAW64697,EAW64698,BAG53253,BAG54755,BAF85057,BAG58745,BAG60264,Q9NW15,AAI56279,AAI57062 Hs.656657 FLJ10375|MGC47890|TMEM16K OTTHUMP00000209959|anoctamin-10|transmembrane protein 16K protein-coding 1352763 ANO2 anoctamin 2 1580863 19561302,19474308,19165232,19015192,17371490,16344560,15067359,14702039,12739008,8889548,20379614 57101 NM_020373,AC006431,AC006560,AC137627,CH471116,AJ272204,AK024010,AL137419,BM710588,BQ025064,DB071682,FJ384095 NP_065106,EAW88819,EAW88820,EAW88821,CAC01125,BAB14773,CAH10704,ACL36050,Q69YW4,Q9NQ90,AAI52769 Hs.148970 C12orf3|DKFZp434P102|TMEM16B anoctamin-2|transmembrane protein 16B (eight membrane-spanning domains) protein-coding 1318896 ANO3 anoctamin 3 1580863 19015192,16344560,15067359,12739008,19553259,20379614 63982 AC021698,AC036114,AC079064,AC083755,CH471064,AJ300461,AK295143,AK295658,AK295816,AK302659,AK304781,AK316018,BQ430769,DA247850,NM_031418,X81896 NP_113606,EAW68296,CAC32454,BAH11989,BAH12144,BAH12191,BAH13772,BAH14255,BAH14389,Q9BYT9,AAI72396 Hs.91791 C11orf25|GENX-3947|TMEM16C anoctamin-3|transmembrane protein 16C (eight membrane-spanning domains) protein-coding 1321043 ANO4 anoctamin 4 14702039,19015192,16344560,15067359,12739008,12477932 121601 AC225709,AC063947,NM_178826,AC079953,AC125628,AC127893,AC138360,CH471054,AI140598,AK091540,AK091591,AK092596,AK293810,AK302962,AK316105,BC109308,DA213819,DA811418,DC325277 NP_849148,EAW97645,EAW97646,EAW97647,BAC03688,BAC03704,BAC03924,BAH11602,BAH13859,BAH14476,AAI09309,Q32M45 Hs.58785 FLJ34221|FLJ34272|FLJ35277|MGC130026|TMEM16D anoctamin-4|transmembrane protein 16D protein-coding 1342534 ANO5 anoctamin 5 19015192,15457408,15124103,15067359,14702039,8889548,21186264,20096397 203859 NM_213599,NM_001142649,AC104009,AC107886,CH471064,AB125267,AK092680,AK125046,AL832374,AL833271,BU742779,N89918,NG_015844 NP_998764,NP_001136121,EAW68325,BAD17859,Q75V66,AAI56326,AAI72489 Hs.154329 GDD1|LGMD2L|TMEM16E anoctamin-5|gnathodiaphyseal dysplasia 1 protein|integral membrane protein GDD1|transmembrane protein 16E protein-coding 1312398 ANO6 anoctamin 6 19015192,15489334,14702039,12477932,7566098,15067359,21107324,20379614 196527 NM_001142679,NM_001025356,NM_001142680,NM_001142678,AC009248,AC009778,AC063924,AA332109,AK095979,AK126409,AK302819,AK303996,AK310641,AL832340,AL833405,BC042383,BC063576,BC073891,BC098410,BC136445,BC136446 NP_001136151,NP_001020527,NP_001136152,NP_001136150,BAG54324,BAG64017,BAG64913,CAD38638,AAH98410,AAI36446,AAI36447,Q4KMQ2 Hs.505339 MGC104751|TMEM16F anoctamin-6|transmembrane protein 16F protein-coding 1351029 ANO7 anoctamin 7 1303974 14981236,19015192,18676855,15761874,15375614,14702039,12477932,12107412,10613842,19495750 1303974 50636 AY617080,BC028162,BC038852,BC047903,CD672346,CR607745,NM_001001891,NM_001001666,AC005237,AC104841,AC111201,AK057322,AY617079 AAT40139,AAT40140,AAH28162,Q6IWH7,Q8N348,AAI56325,AAI57070,NP_001001891,NP_001001666 Hs.163909 D-TMPP|DTMPP|IPCA-5|IPCA5|NGEP|PCANAP5|PCANAP5L|TMEM16G Dresden-transmembrane protein of the prostate|anoctamin-7|dresden transmembrane protein of the prostate|new gene expressed in prostate|prostate cancer associated protein 5|prostate cancer-associated gene 5|prostate cancer-associated protein 5|transmembrane protein 16G protein-coding 1349559 ANO8 anoctamin 8 19015192,15647853,12477932,10997877,16169070 57719 NM_020959,AC010463,CH471106,AB046843,AI860149,BC037307,CR616031 NP_066010,EAW84595,EAW84596,BAB13449,Q9HCE9 Hs.590990 KIAA1623|TMEM16H anoctamin-8|transmembrane protein 16H protein-coding 1345920 ANO9 anoctamin 9 19015192,16344560,15202010,14702039,12477932,9305847,20379614 338440 NM_001012302,AC138230,CH471158,CQ834410,CQ834594,AI986229,AK026923,AK074088,AK096874,AK303642,AK316479,AL832289,BC047946,BC128557,BC144415,DB140066,U33271 NP_001012302,EAX02326,CAH05420,CAH05512,BAB84914,BAG53386,BAG64646,BAH14850,AAI28558,A1A5B4 Hs.501622 PIG5|TMEM16J|TP53I5 anoctamin-9|p53-induced gene 5 protein|transmembrane protein 16J|tumor protein p53 inducible protein 5|tumor protein p53-inducible protein 5 protein-coding 1342993 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) 1679229 289 1606331 ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 16169070,8192856,11729309,11555662,19121999,18439902,18410380,17962813,17557114,17266954,16713569,16344560,16341127,16009334,15895553,15642345,15489334,15247276,15136563,12807913,12565890,12524539,12522243,12477932,11909973,11830591,11360199,11163245,11018049,10400610,10086381,9373149,9353121,9144194,9110174,8970164,8679524,8619474,8530098,8125298,1655467,15308690,17643375,19565487,17142970,19913121,20558741,20628086 8125 CR625412,DA825897,U60823,U73477,X75090,AW383928,AC087639,AC090734,CH471082,AF025684,AK127498,AK223280,AK312703,AY007110,AY349171,BC000608,BC007200,BC064969,BC106719,BC125143,BT007436,CR598445,CR605023,CR606008,NM_006305 AAC50570,AAB39706,CAA52981,P39687,Q08AJ6,Q3KPI8,Q6PKH8,ABM84220,ABM87728,NP_006296,EAW77824,EAW77825,AAB91548,BAD97000,BAG35581,AAQ79832,AAH00608,AAH07200,AAI06720,AAI25144,AAP36104 Hs.458747 C15orf1|I1PP2A|LANP|MAPM|MGC119787|MGC150373|PHAP1|PHAPI|PP32 acidic leucine-rich nuclear phosphoprotein 32 family member A|acidic nuclear phosphoprotein pp32|cerebellar leucine rich acidic nuclear protein|inhibitor-1 of protein phosphatase-2A|leucine-rich acidic nuclear protein|mapmodulin|potent heat-stable protein phosphatase 2A inhibitor I1PP2A|putative HLA-DR-associated protein I|putative human HLA class II associated protein I protein-coding 731659 ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B 1580863 19130553,18039846,17081983,16094384,15895553,15489334,15164053,12522243,12477932,11729309,11018049,9473664,9373149,9285060,8125298,17643375,20015864,20538007 10541 NM_006401,AL354726,CH471105,AK223454,AK313733,AW296974,BC013003,BC019658,BP395780,CR595726,U70439,Y07569,Y07570,Y07969 NP_006392,CAI15260,CAI15261,EAW58864,EAW58865,BAD97174,BAG36474,AAH13003,AAH19658,AAB37579,CAA68855,CAA68856,CAA69265,Q53F35,Q5T6W8,Q92688 Hs.726054 APRIL|PHAPI2|SSP29 OTTHUMP00000021760|acidic leucine-rich nuclear phosphoprotein 32 family member B|acidic protein rich in leucines|putative HLA-DR-associated protein I-2|silver-stainable protein SSP29 protein-coding 2947095 ANP32BP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1 646791 AC068338,CR616535,NG_022900 Hs.631704 pseudo 2947013 ANP32BP2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2 100130708 NG_022880,Z98743 pseudo 1317675 ANP32C acidic (leucine-rich) nuclear phosphoprotein 32 family, member C Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq] 15895553,15146458,12524539,11678310,11360199,10471270,10400610,10086381 23520 NM_012403,AC079240,AC105250,AF008216,CH471056 NP_036535,AAY40978,AAD12746,O43423,EAX04832,AAI72312 Hs.661161 PP32R1 acidic leucine-rich nuclear phosphoprotein 32 family member C|phosphoprotein 32-related protein 1|pp32 related 1|tumorigenic protein pp32r1 protein-coding 1351063 ANP32D acidic (leucine-rich) nuclear phosphoprotein 32 family, member D Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq] 15895553,15489334,12477932,11678310,11360199,10471270,10400610,10086381 23519 NM_012404,AC089987,CH471111,U71084,BC069122 NP_036536,EAW57983,AAD13667,AAH69122,O95626 Hs.532658 PP32R2 acidic leucine-rich nuclear phosphoprotein 32 family member D|acidic nuclear phosphoprotein 32D|phosphoprotein 32-related protein 2|pp32 related 2|tumorigenic protein pp32r2 protein-coding 1321615 ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 1580863 16712791,11256614,16344560,17643375,8889548,16381901,15895553,15635413,15489336,15489334,14702039,12477932,12438741,11230166,11076863,9373149,8125298 81611 AK303333,AK303392,BM974388,CB123292,DA379137,NM_001136478,NM_001136479,NM_030920,AL138795,CH471121,AK025624,AK092672,AK095228,AK223469,AL832664,AL832674,AL833660,AY057381,BC003380,CR596933,CR621754 BAG64397,BAG64448,NP_001129950,NP_001129951,NP_112182,CAI22806,CAI22807,CAI22808,CAI22809,EAW53575,EAW53576,EAW53577,EAW53578,EAW53579,BAC03942,BAC04505,BAD97189,AAL25814,AAH03380,Q53F20,Q5TB20,Q9BTT0,CAL37954 Hs.656466 LANP-L|LANPL|MGC5350 LANP-like protein|OTTHUMP00000037718|acidic leucine-rich nuclear phosphoprotein 32 family member E|leucine-rich acidic nuclear protein like protein-coding 737099 ANPEP alanyl (membrane) aminopeptidase Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq] 1580863,1581742,1300048,1300284 19236378,15166647,15084671,14767532,14507917,12675232,12634402,12551991,12477932,12473585,12443882,12406907,11999577,11774469,11559807,11384645,11140838,10676659,10605003,9634079,9367365,9056417,8887485,8105105,8102610,7902291,7576235,6149934,2903074,2901990,2428842,1977688,1705556,1675638,10734069,2564851,1350662,15308636,19330903,18794057,18605079,18495788,18431797,18366676,18085638,18008160,17999179,17953966,17897790,17888402,17662271,17655775,17636545,17363739,17363734,17329256,16818694,16778789,16685268,16572171,16533817,16469741,16466852,16335952,16216591,15916720,15883031,15840518,15812828,15758076,15489334,15280478,15234325,18677709,19373777,19562339,19597336,19908113,20064928,20379614,20689807,21048031 1581742,1300284 290 NM_001150,AC018988,AC079075,AF527789,AJ426050,AJ426067,AJ427985,CH471101,M55522,AB209918,AK298134,AK298242,AK298339,AK300946,BC058928,BQ879097,CR595462,M22324,X13276 NP_001141,AAQ09003,CAD19802,CAD19822,CAD20931,EAX02067,EAX02068,AAA83399,BAD93155,BAG60413,BAG60508,BAG60587,BAG62575,AAH58928,AAA51719,CAA31640,P15144,Q59E93,Q71E46,Q8IVL7 Hs.1239 APN|CD13|GP150|LAP1|P150|PEPN AP-M|AP-N|alanyl (membrane) aminopeptidase|alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)|alanyl aminopeptidase|aminopeptidase M|aminopeptidase N|hAPN|microsomal aminopeptidase|myeloid plasma membrane glycoprotein CD13 protein-coding 1352374 ANTP2 adenine nucleotide translocator pseudogene 2 (clone 7) 2157297 295 1343739 ANTP3 adenine nucleotide translocator pseudogene 3 (clone 13) 2157297 296 1348379 ANTP4 adenine nucleotide translocator pseudogene 4 (clone 9) 2157297 297 1316162 ANTXR1 anthrax toxin receptor 1 This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq] 15777794,15689409,15489334,14759258,14755251,14702039,12700348,12477932,11709713,11700562,11574549,11559528,10947988,10545197,9373149,8889548,8125298,14507921,16564009,17081983,16762926,16401723,16141341,15993844,19440709,19817382,19834535,20221438,17207965 84168 NM_032208,NM_053034,NM_018153,AC112230,AC114802,CH471053,AF090095,AF279145,AF421380,AK001463,AK002160,AK025429,AK126783,AK223273,AK292113,AK309553,BC012074,BC012475,BU687536,CF126791,CR601167,CR608949,DC360415,DC361072,NG_012649,CS430823 NP_115584,NP_444262,NP_060623,AAX88860,AAY24067,EAW99855,EAW99856,EAW99857,EAW99858,AAK52094,AAL26496,BAA91707,BAB15128,BAD96993,BAF84802,AAH12074,AAH12475,Q508I6,Q508I8,Q53FL1,Q96EC6,Q9H6X2,ACE87706,ACE87019,ADQ31687,CAL60148 Hs.165859 ATR|FLJ10601|FLJ11298|FLJ21776|TEM8 2310008J16Rik|2810405N18Rik|anthrax toxin receptor 1|tumor endothelial marker 8 protein-coding 1346318 ANTXR2 anthrax toxin receptor 2 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599125,1599126,1580863 15044490,16564009,19240061,19191226,16473908,16401723,16344560,15725249,15489334,15337774,15326297,15243628,15231748,15079089,14702039,14508707,12973667,12700348,12551953,12477932,11683410,9847074,20331448,17183731,19858192,20062062,20652271,21041274 1599125,1599126 118429 NM_058172,NM_001145794,AC097711,AC109518,AC114773,CH471057,AB209913,AK023450,AK055636,AL110207,AL831848,AL832851,AY040326,AY233452,BC034001,BC042596,BC047345,BC107876,BC114374,BG235895,BM989747,BQ432519,CR590529,CR601853,CR607683,CR612147,CR617102,DA194583,DA989889,DB280658,NG_015987 NP_477520,NP_001139266,AAY40907,EAX05848,EAX05849,EAX05850,BAD93150,BAB70976,CAI46157,AAK77222,AAP04016,AAH34001,AAI07877,AAI14375,P58335,Q32Q26 Hs.162963,Hs.720941 CMG-2|CMG2|FLJ31074|ISH|JHF|MGC111533|MGC45856 OTTHUMP00000200886|anthrax toxin receptor 2|capillary morphogenesis gene 2 protein|capillary morphogenesis protein 2 protein-coding 1602061 ANTXRL anthrax toxin receptor-like 16344560,15164054,14702039 195977 NR_003601,AL450388,AL603965,AK057316,DB133812 A6NF34 Hs.538515 pseudo 1347960 ANUBL1 AN1, ubiquitin-like, homolog (Xenopus laevis) 1580863 16344560,15489334,15164054,14702039,12477932,16385451,20139978 93550 NM_174890,NM_001128324,AL445201,CH471160,AA813695,AF311324,AK090704,AK097504,AK097924,AK292420,AK292469,AK314395,BC017591,BC045587,BC048968,DB079347,DB454939 Q5VVY6,NP_777550,NP_001121796,CAH72966,CAH72967,CAH72968,CAH72970,EAW86653,EAW86654,EAW86655,EAW86656,AAG33850,BAG52215,BAG53478,BAG53552,BAF85109,BAF85158,BAG37019,AAH45587,AAH48968,Q5VVY2,Q86WR3,Q86XD8 Hs.89029,Hs.721828 FLJ40185|ZFAND4 AN1-type zinc finger and ubiquitin domain-containing protein 1|AN1-type zinc finger protein 4|OTTHUMP00000019507|zinc finger, AN1-type domain 4 protein-coding 730873 ANXA1 annexin A1 Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. [provided by RefSeq] 2306888,2306896,2306907,2306939,2306898,2306914,2306928,2306942,2306950,2306952,2306954,2306889,2306948,2306920,2306905,2306910,2306891,1599668,734574,1580863,734965,2325722,2325723 18577758,20359522,20562859,20679535,2967291,10908733,10882119,16130169,2936963,19289595,19208747,19204938,19104500,19101730,19076685,18794547,18776816,18706208,18673418,18663355,18652761,18594025,18566442,18297688,18164291,17994624,17971499,17932043,17873281,17681950,17372018,17340616,17317721,17215481,17081983,17023068,17019707,17008549,16984915,16973129,16949910,16899607,16883066,16741918,16675446,16627980,16530434,16460738,16324197,16100712,16014420,15944914,15883023,15592455,15581623,15526283,15489334,15485879,15476183,15447985,15187149,15168732,15157173,15064349,14733945,14633604,14506282,12859969,12679902,12645011,12477932,12236584,12165536,11759108,11574426,11468004,10512675,9915835,9459484,8955167,8587144,8557678,8453382,8425544,3303336,2971450,2969496,2532504,2457390,1832554,1670773,1602151,17353931,20962261,20163912,20353277,20558817,20713499,20872967,20549082,20665809,1374236,17626739,18029348,18396684,19351789,19428102,19596235,19615732,19767728,19850308,20007579,20025479,20061392,20237496,20308542,2138016,19394292,20821804,20970165,19913121,20628086,20398702 2306888,2306896,2306907,2306939,2306898,2306914,2306928,2306942,2306950,2306952,2306954,2306889,2306948,2306920,2306905,2306910,2306891,1599668,734574,734965,2325722,2325723 301 CR592907,CR598206,CR599722,CR600988,CR602892,CR607819,CR608313,CR608352,CR610492,CR618229,CR622273,CR626421,X05908,AL359997,CH471089,U25414,AB451274,AB451401,AK074480,NM_000700,AK296808,BC001275,BC018683,BC034157,BC035993,BT019896,BT019916,BT019917,CR407684 CAA29338,P04083,Q05BR2,Q5T3N0,Q5T3N1,Q5TZZ9,ABM82099,ABM85264,NP_000691,CAI16494,CAI16495,CAI16496,EAW62545,EAW62546,EAW62547,EAW62548,EAW62549,EAW62550,BAG70088,BAG70215,BAG59381,AAH01275,AAH34157,AAH35993,AAV38699,AAV38719,AAV38720,CAG28612 Hs.494173 ANX1|LPC1 OTTHUMP00000021475|annexin A1|annexin I (lipocortin I)|annexin-1|calpactin II|calpactin-2|chromobindin-9|lipocortin I|p35|phospholipase A2 inhibitory protein protein-coding 1318989 ANXA10 annexin A10 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq] 1580863 16712791,16341674,19582876,10458909,18029348,15489334,12477932,12000734,20664964 11199 BM768053,NM_007193,AC068989,AC095051,CH471056,AF196478,AJ238979,AY626137,BC007320,CB163976 NP_009124,EAX04810,AAF06672,CAB51917,AAT42216,AAH07320,Q6ITU8,Q9UJ72,ABW03531 Hs.188401 ANX14 annexin 14|annexin A10|annexin-10|annexin-14 protein-coding 1320510 ANXA11 annexin A11 This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Transcript variants encoding the same isoform have been identified. [provided by RefSeq] 1580863 12577318,7508441,19345290,19165924,18690218,17081065,16189514,15489334,15197175,14702039,12805373,12601007,12477932,12445460,11883939,11013079,10037139,9503022,9373149,9268363,8639854,8125298,1602151,1299619,16169070,20093723,20093729,16385451,18256029,19484149,19724273,9188810,20805159 311 NM_001157,NM_145868,NM_145869,AL356095,AL513174,CH471142,AB209770,AJ278463,AJ278464,AJ278465,AK000567,AK056107,AK126287,AK222918,AK298362,AK300509,AK301047,AL357617,BC007564,BT019934,CR450323,CR591981,CR592506,CR604152,CR606218,CR621013,L19605 NP_001148,NP_665875,NP_665876,CAI40437,CAI40438,CAI40452,CAI13915,CAI13916,CAI13917,EAW80399,EAW80400,EAW80401,EAW80402,EAW80403,EAW80404,EAW80405,BAD93007,CAB94995,CAB94996,CAB94997,BAG51628,BAG54303,BAD96638,BAG60604,BAH13296,BAG62659,AAH07564,AAV38737,CAG29319,AAA19734,P50995,Q59EP1,Q5T0G7,Q5T0G8,Q5T0G9,Q6ICS0,ABM84429,ABM87480 Hs.530291 ANX11|CAP50 56 kDa autoantigen|CAP-50|OTTHUMP00000019957|OTTHUMP00000019958|annexin A11|annexin XI|annexin-11|autoantigen, 56-kD|calcyclin-associated annexin 50 protein-coding 1316801 ANXA13 annexin A13 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 18029348,20701074,1530946,14718574,11961095,11581287,10871286,10737800,9503022,9373149,12477932,8125298,21046636 312 AC135166,CH471060,AJ306450,AK057781,AK223374,AW296908,AW854063,BC125158,BG823061,CR541838,Z11502,AC011134,NM_004306,NM_001003954,AK290281 EAW92046,EAW92047,EAW92048,CAC34622,BAD97094,AAI25159,CAG46637,CAA77578,P27216,Q53FB5,Q6FHB6,NP_004297,NP_001003954,BAF82970 Hs.181107 ANX13|ISA|MGC150460 annexin A13|annexin XIII|annexin, intestine-specific|annexin-13|intestine-specific annexin protein-coding 736099 ANXA2 annexin A2 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2306888,1578382,1580863,1300285,2325731,2325728,2317307 20627396,16289162,16230353,16177123,16100712,15952740,15951569,15944914,15940368,15881658,15849182,15788416,15784727,15635413,15574370,15567461,15554585,15526283,15489334,15471954,15388255,15302870,15257287,15226372,15211578,15070701,15064349,15051937,15009185,14995994,14991775,14702039,14699089,14672933,14613585,14522961,14506282,14504107,13679511,12730231,12699894,12660155,12629510,12628297,12477932,12468550,12045186,11978811,11790298,11781322,11295233,11108961,11106497,10809787,10777578,10512675,10213612,10077593,9515022,9373149,8955167,8898866,8834809,8636985,8449982,8125298,8117306,8110754,7851890,7821789,7518469,7510700,2969496,2946940,2456953,2174397,2148288,1999197,1825830,1602151,1531641,16940516,3013422,7961821,19513064,19325895,19289089,19176991,19020748,19016789,18990701,18924133,18799458,18712570,18636554,18565825,18502476,18494762,18434302,18389276,18384219,18332131,18289715,18262347,18211896,18174463,18164291,18084608,18008140,17999956,17971878,17824845,17709546,17581860,17513451,17441315,17244347,17239928,17081983,17081065,17065584,16989986,16984913,16963080,16882661,16797773,16709165,16643892,16565220,16524621,16501079,16493010,16331566,16526095,9886297,12171929,17353931,17711622,15166316,20947498,20970165,20093721,20093722,20225235,17254974,17626749,19022301,19339807,19380152,19556289,19585213,19605586,19642359,19656851,19724273,19764771,19823170,19885616,19951950,20015551,20018898,20047591,20079732,20121258,20335258,20379614,20540360,2138016,20493868,20847146,19913121,20628086,20702651,20407807,21033036 2306888,1578382,1300285,2325731,2325728,2317307 302 NM_001136015,NM_004039,NM_001002857,AC087385,CH471082,CQ878716,AA661718,AK092006,AK124427,AK222542,AK297923,AK309356,AW087150,BC001388,BC001748,BC009564,BC013843,BC015834,BC016774,BC021114,BC023990,BC052558,BC052567,BC066955,BC068065,BC093056,BT007432,BX640598,CR590378,CR595032,CR595469,NM_001002858,CR596938,CR597222,CR597904,CR598583,CR599823,CR600114,CR608031,CR611402,CR616100,CR616357,CR617962,CR618374,CR618857,CR620533,CR622642,CR622682,CR625736,D00017,D28364 NP_004030,NP_001002858,NP_001129487,NP_001002857,EAW77582,EAW77583,EAW77584,EAW77585,EAW77586,EAW77587,CAH59520,BAG52463,BAG60240,AAH01388,AAH09564,AAH15834,AAH16774,AAH21114,AAH23990,AAH52558,AAH52567,AAH66955,AAH68065,AAH93056,AAP36100,CAE45704,BAA00013,BAA05730,P07355,ABM81934,ABM85113 Hs.511605 ANX2|ANX2L4|CAL1H|LIP2|LPC2|LPC2D|P36|PAP-IV annexin A2|annexin II|annexin-2|calpactin I heavy chain|calpactin I heavy polypeptide|calpactin i heavy chain|calpactin-1 heavy chain|chromobindin 8|chromobindin-8|lipocortin II|placental anticoagulant protein IV|protein I protein-coding 1346050 ANXA2P1 annexin A2 pseudogene 1 2174397,1611909 303 NR_001562,AC013477,M62896 Hs.546235 ANX2L1|ANX2P1|LPC2A pseudo 1347050 ANXA2P2 annexin A2 pseudogene 2 2969496,2174397,19615732 304 NR_003573,NG_001337,AL139008,M62898 A6NMY6 Hs.534301 ANX2L2|ANX2P2|LPC2B pseudo 1344486 ANXA2P3 annexin A2 pseudogene 3 2174397,20339536 305 NR_001446,AC069020,M62895 Hs.591361 ANX2L3|ANX2P3|LIP2|LPC2C pseudo 735865 ANXA3 annexin A3 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq] 1580863 17207965,16130169,16236264,16169070,15489334,12665801,12477932,10662590,10391209,8889548,8639653,8626524,8276419,2975506,2968983,2159184,2138632,1830024,17205602,20103635,2138016,7526843,9497492,9550422,20167856 306 NM_005139,M63310,AC104808,CH471057,L20591,AB209868,AK313945,BC000871,BU674495,BX336217,CR407648,CR590148,CR600226,CR601701,CR611294,CR621887,CR622182,M20560 ADQ32626,NP_005130,AAA59496,AAA52284,P12429,Q59EE3,EAX05822,EAX05823,EAX05824,AAA16713,BAD93105,BAG36663,AAH00871,CAG28576 Hs.480042 ANX3 35-alpha calcimedin|Annexin III (lipocortin III)|OTTHUMP00000219237|OTTHUMP00000219238|PAP-III|annexin A3|annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)|annexin-3|calcimedin 35-alpha|inositol 1,2-cyclic phosphate 2-phosphohydrolase|lipocortin III|placental anticoagulant protein III protein-coding 735938 ANXA4 annexin A4 Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. [provided by RefSeq] 1580863 20237821,2970257,16130169,18029348,18164291,17363042,16954445,16687573,16021519,15952740,15489334,15145526,12477932,12324456,10978337,10949146,10883672,10708762,9720986,9084877,8889548,8882729,8798684,8631806,8002935,2975506,2974032,2530088,2254922,2148260,2143074,1346776,19598262,19955935,20379614,2138016,19913121,20628086 307 CR595899,CR602990,CR617262,D78152,M19383,M82809,NM_001153,AC019206,CH471053,AB209457,AK058017,AK293177,AK293396,AK293406,AK303960,AK315511,AY453398,BC000182,BC011659,BC063672,BE886769,BX641114,CB305705,CR407681,AC092431,AC112787 CAG28609,BAA11227,AAC41689,AAA51740,P09525,Q59FK3,Q6LES2,Q6MZI0,Q6P452,ABM83780,ABM87100,NP_001144,AAY14864,EAW99844,BAD92694,BAG56720,BAG56905,BAG56913,BAG64884,BAG37892,AAS47515,AAH00182,AAH11659,AAH63672,CAE46052 Hs.422986 ANX4|DKFZp686H02120|MGC75105|PIG28|ZAP36 35-beta calcimedin|OTTHUMP00000202207|P32.5|PAP-II|PP4-X|annexin A4|annexin IV (placental anticoagulant protein II)|annexin-4|carbohydrate-binding protein p33/p41|chromobindin-4|endonexin I|lipocortin IV|placental anticoagulant protein II|proliferation-inducing gene 28|proliferation-inducing protein 28|protein II|zap 36/annexin iv protein-coding 734268 ANXA5 annexin A5 The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq] 1578384,1580863,2317541,2317543,2317538,2317542 15489334,15381697,15286043,15280367,15242878,15242332,15173196,14764526,14710359,12871462,12798778,12769841,12732504,12477932,12200370,12102261,11773704,11076863,10903505,10329451,9584197,9435213,9398511,8834809,8495746,8045287,8034319,7958998,7519374,2974032,2968983,2967291,2964863,2963810,2960376,2957692,2532007,2455636,2148156,2147412,1683830,1602151,1397263,1311770,20542876,2967495,8667030,16130169,11256614,19345290,19238444,19234085,19056482,18977990,18951241,18773956,18703851,18462735,18384219,18164291,17893975,17869070,17766279,17681182,17408414,17363042,17339269,17137622,17053060,16916647,16785226,16704958,16670301,16579937,16449315,16389029,16381901,16025836,15952740,15692104,15634283,15526283,15489336,1310621,16169070,20705065,17540176,19372761,19461527,19578796,19639233,19652881,19799864,19810772,19846818,20174767,2138016,20532885,20643388 1578384,2317541,2317543,2317538,2317542 308 AC096730,NM_001154,CH471056,U01681,U01691,U05770,AK297909,AK312644,AY577779,BC001429,BC004993,BC012804,BC012822,BC018671,BC032093,CR536522,CR541842,CR591017,CR593220,CR593484,CR594353,CR594878,CR595133,CR596264,CR596501,CR597782,CR599126,CR599513,CR599687,CR600881,CR602899,CR604610,CR604998,CR607473,CR607543,CR608204,CR608412,CR608923,CR608990,CR609769,CR610575,CR611573,CR611928,CR612257,CR613088,CR613364,CR613615,CR614535,CR615953,CR616516,CR616672,CR616785,CR622055,CR624113,D00172,J03745,M18366,M19384,M21731,X12454,CR596570 NP_001145,AAY40954,EAX05256,EAX05257,EAX05258,EAX05259,EAX05260,AAB40047,AAB60648,BAG60228,BAG35528,AAH01429,AAH04993,AAH12804,AAH12822,AAH18671,CAG38759,CAG46640,BAA00122,AAA52386,AAA35570,AAB59545,AAA36166,CAA30985,P08758,CAL38022,ABM82870,ABW03769,ABW03461 Hs.480653 ANX5|ENX2|PP4 CBP-I|OTTHUMP00000219982|OTTHUMP00000219983|OTTHUMP00000219985|PAP-I|VAC-alpha|anchorin CII|annexin 5|annexin A5|annexin V|annexin-5|calphobindin I|endonexin II|lipocortin V|placental anticoagulant protein 4|placental anticoagulant protein I|thromboplastin inhibitor|vascular anticoagulant-alpha protein-coding 733718 ANXA6 annexin A6 Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Exon 21 of annexin VI is alternatively spliced, giving rise to two isoforms that differ by a 6-amino acid insertion at the start of the seventh repeat. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. [provided by RefSeq] 1580863 15576473,19345290,18786929,18245088,18164291,17824845,17822395,17081065,16674946,16153422,15489334,15355961,15242332,2139657,1831222,1420329,16169070,14530271,7753047,15226301,14702039,12885247,12534274,12477932,12140262,11696438,10618640,10571081,9883272,9515022,9195978,8834809,8798684,8709144,8146179,7698768,3258820,2963335,2731935,2528541,19322030,19386597,19900398,2138016,20363475 309 NM_001155,AC008641,CH471062,X77673,AK126836,AK130077,AK290672,AK298582,AK303078,BC017046,BQ924484,CR596318,D00510,J03578,Y00097,AI566871,BM904172,DC411634,NM_001193544 NP_001146,EAW61684,EAW61685,EAW61686,EAW61687,BAC86715,BAC85290,BAF83361,BAH12818,BAH13893,AAH17046,BAA00400,AAA35656,CAA68286,P08133,Q6ZP35,ABM82536,ABW03390,NP_001180473 Hs.412117 ANX6|CBP68 67 kDa calelectrin|CPB-II|annexin A6|annexin VI (p68)|annexin-6|calcium-binding protein p68|calelectrin|calphobindin II|calphobindin-II|chromobindin-20|lipocortin VI|p68|p70 protein-coding 731625 ANXA7 annexin A7 Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq] 2292654,2292656,2292655,734966,1580863 12445460,19602687,18449914,17708571,17112522,17018618,15489334,14519201,12477932,11994295,11839755,11338180,11287641,11278415,10672515,9373149,9268363,8125298,8053909,7738119,7515686,2542947,1825209,1533123,20858460,20093729,20936779,16385451,18256029,20190808 2292654,2292656,2292655,734966 310 NM_001156,NM_004034,AL353731,AL512656,CH471083,AB062429,AK222552,AK295319,AK300086,AK301681,AK307772,AK309141,AK312447,AK313024,AW518993,BC001322,BC002632,BT007187,CR407686,CR590056,CR593533,CR603295,CR611487,CR614618,CR616705,CR616728,CR617521,CR619341,CR623322,CR624692,DC367313,J04543,M64272 NP_001147,NP_004025,CAI52483,CAI52484,CAI52485,CAI15290,CAI15291,EAW54493,EAW54494,BAB93492,BAD96272,BAG58296,BAG61889,BAG63154,BAG35354,BAG35859,AAH02632,AAP35851,CAG28614,AAA36616,P20073,Q53HM8 Hs.631827 ANX7|SNX|SYNEXIN annexin A7|annexin VII|annexin-7 protein-coding 1317074 ANXA8 annexin A8 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. 1580863,2325733,2325735 16638567,16344560,16203777,15928709,12477932,11917092,9373149,8045287,8018923,2530088,1364010,1313714 2325733,2325735 244 P13928,Q53FY2,Q5VT78,Q5VT79,Q96H89 NM_001630,AL603965,AK223149,BC008813,CR603162,CR608186,DA698972,X16662 NP_001621,CAH70574,CAH70575,BAD96869,AAH08813,CAA34650,P13928,Q53FY2,Q5VT78,Q5VT79,Q96H89,ABM84356 Hs.651104 ANX8|FLJ32754|VAC beta protein-coding 1354199 ANXA8L1 annexin A8-like 1 728113 NM_001098845,AL391137 NP_001092315,CAI12203,CAI12204,Q5T2P8 Hs.524293 bA301J7.3 annexin A8-like protein 1 protein-coding 1350124 ANXA8L2 annexin A8-like 2 414306 1352405 ANXA9 annexin A9 The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq] 1580863 10899159,12832069,16710414,15489334,15302935,12477932,9931420,9742942,9165068,16169070,20383146 8416 NM_003568,AL590133,CH471121,AF230929,AJ009985,AK314926,BC005830,BJ993162,CR536481 NP_003559,CAI13335,EAW53496,AAG16780,CAA08933,AAH05830,CAG38720,O76027,ABM83945,ABM87263 Hs.727570 ANX31 annexin 31|annexin A9|annexin XXXI|annexin-31|annexin-9|pemphaxin protein-coding 1352932 AOAH acyloxyacyl hydrolase (neutrophil) Acyloxyacyl hydrolase (AOAH) is a 2-subunit lipase which selectively hydrolyzes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial endotoxins. AOAH may modulate host inflammatory responses to gram-negative bacterial invasion. The 2 subunits are encoded by a single mRNA. [provided by RefSeq] 1580863 8089145,8088847,1987068,1883828,16815140,15489334,12477932,9373149,8613354,8125298,15342556,16344560,20237496,20379614,20205591 313 NM_001637,AC083876,AC087069,CH236951,CH471073,AK223476,AK297016,AK298644,AK308215,BC025698,DC314135,M62840,BP310596,CR748867,DA469735,NM_001177506,NM_001177507 NP_001628,EAL23977,EAW94073,BAD97196,BAH12476,BAH12834,AAH25698,AAA35506,P28039,ABM81866,ABM85026,NP_001170977,NP_001170978 Hs.488007 OTTHUMP00000206984|acyloxyacyl hydrolase protein-coding 1344698 AOC2 amine oxidase, copper containing 2 (retina-specific) Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq] 1580863 9119395,15146197,14585497,9722954,19588076 314 NM_009590,NM_001158,AB012943,AC016889,CH471152,DQ060035,AF081363,BC142641,CA425343,CN355968,D88213 NP_033720,NP_001149,BAA32589,BAA32590,EAW60895,EAW60896,AAY43129,AAD39345,AAI42642,BAA19001,O75106 Hs.143102 DAO2|RAO SSAO|retina-specific copper amine oxidase|semicarbazide-sensitive amine oxidase protein-coding 1347849 AOC3 amine oxidase, copper containing 3 (vascular adhesion protein 1) Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The product is a major protein on the adipocyte plasma membrane. It has adhesive properties and also has functional monoamine oxidase activity. A pseudogene for this gene has been discribed and is located approximately 9-kb downstream. [provided by RefSeq] 2313821,2313823,2313824,2313825,2313919,2313912,2313915,2313925,2313928,2313820,2313822,2313908,2313827,2313914,2313916,2313819,2313826,2313828,1580863 16335952,16046623,15919838,15830186,15489334,15242332,15057044,14755492,14726375,14715500,14585497,12700900,12477932,12466139,12097405,9110174,8619474,1375396,9653080,8972912,18029348,19361461,18991279,18644360,18005095,17490641,17431736,17400359,17393062,17393059,17256751,17006978,16806498,16556889,16511016,16507887,16361866,18853098,19336232,19761765,19789505,19861682,20063021,20512991 2313821,2313823,2313824,2313825,2313919,2313912,2313915,2313925,2313928,2313820,2313822,2313908,2313827,2313914,2313916,2313819,2313826,2313828 8639 AF054985,AF067406,AK025727,AK315129,BC036368,BC050549,CR593009,U39447,NM_003734,AB050502,AC016889,CH471152,DQ143944 AAC09346,AAC25170,BAG37582,AAH50549,AAC50919,Q16853,Q9UEU7,NP_003725,BAB18866,EAW60897,AAZ38716 Hs.198241 HPAO|SSAO|VAP-1|VAP1 copper amine oxidase|membrane primary amine oxidase|semicarbazide-sensitive amine oxidase|vascular adhesion protein 1 protein-coding 1321760 AOF1 amine oxidase (flavin containing) domain 1 16344560,15489334,14702039,14574404,12477932,7566098,19407342,19615732,19727073,20670891,19815555 221656 NM_153042,AL031774,AL589723,CH471087,AA332652,AJ420481,AK091217,AK125318,BC113093,CR627410,DA099422 NP_694587,EAW55400,EAW55401,BAC03612,BAC86124,AAI13094,CAH10499,Q08EI0,Q8NB78,CAM14159 Hs.709336 AOF1|C6orf193|DKFZp686I0412|FLJ33898|FLJ34109|FLJ43328|LSD2|bA204B7.3|dJ298J15.2 OTTHUMP00000179125|amine oxidase (flavin containing) domain 1|amine oxidase, flavin containing 1|flavin-containing amine oxidase domain-containing protein 1|lysine-specific histone demethylase 1B|lysine-specific histone demethylase 2 protein-coding 1343174 AOM arthroophthalmopathy, progressive (Stickler syndrome) 315 733539 AOX1 aldehyde oxidase 1 Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq] 734575,1300048,1580863 17992631,12477932,11302742,8889548,8043023,7570184,8248161,12054535,19500084,19741035,19898482,20379614,20800603,16712791 734575 316 HB736499,NM_001159,AC007163,AC080164,AF010260,AF017060,CH471063,AB046692,AK297930,AK301052,AK307738,AL079797,BC117179,BC117181,BM681054,CB153864,L11005,FB789700,FB794625,FB798872,FB811643,FB848178,FB866440,FB885306,FB890693,FB896453,GN364811,HB659759,HB664684,HB668931,HB681702,HB718237,HB755365,HB760752,HB766512 CBC62201,NP_001150,AAX93285,AAY24265,AAB83968,AAB83966,EAW70208,EAW70209,BAB40305,BAG60247,BAG62663,AAI17180,AAI17182,AAA96650,Q06278,Q9BYF0,CAW36666,CAW39000,CAW41181,CAW47197,CAW63617,CAW71847,CAW80339,CAW82831,CAW86206,CAY77140,CBC02619,CBC04872,CBC06832,CBC12951,CBC45781,CBC79136,CBC84084,CBC89038 Hs.406238 AO|AOH1 aldehyde oxidase protein-coding 1603491 AOX2P aldehyde oxidase 2 pseudogene 11562361,8889549,20210993,16344560,20800603 344454 NR_001557,AC007163,AY245868,DB346520 Hs.148269 AOH2|AOX2 pseudo 1350470 AP1B1 adaptor-related protein complex 1, beta 1 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Two transcript variants encoding different isoforms have been found for this gene, and variants utilizing alternative polyadenylation signals exist. [provided by RefSeq] 734576,1580863 9733768,7987321,15569716,15862967,15752756,15461802,15231748,15063762,12477932,12419313,12070169,11926829,11451993,11409905,11106728,10966473,10931822,10535737,10097102,9707615,8812422,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,11877451,10608806,16009131,18614564,10737800,11031247,11252894,11694590,12429846,16344560,17290217,20009918,7593184,8975699,9280305 734576 162 BC046242,BM909530,BX537680,CR626722,CT841508,L13939,NM_145730,NM_001127,AC002059,CH471095,U36267,U36268,AI084003,AK294406,AK296567,AK299613,AU139022,BG999878,CD364485,NM_001166019,Y07848,HB900728,HC958137 AAH46242,CAD97809,CAJ86438,AAC98702,Q10567,Q7Z3M8,Q86X54,CAK54367,CAK54666,NP_663782,NP_001118,EAW59798,EAW59799,EAW59800,AAC50684,BAG57658,BAG59187,BAG61541,NP_001159491,CBF79614,CBU99115 Hs.368794 ADTB1|AP105A|BAM22|CLAPB2 AP-1 complex subunit beta-1|Golgi adaptor HA1/AP1 adaptin beta subunit|OTTHUMP00000199165|OTTHUMP00000199168|adapter-related protein complex 1 subunit beta-1|adaptor protein complex AP-1 subunit beta-1|beta-1-adaptin|beta-adaptin 1|beta-prime-adaptin|beta1-adaptin|clathrin assembly protein complex 1 beta large chain|plasma membrane adaptor HA2/AP2 adaptor beta subunit protein-coding 1346195 AP1G1 adaptor-related protein complex 1, gamma 1 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. 1580863 12505986,12498786,12477932,12429846,12042876,11950833,11926829,11872161,11451993,11418592,11409905,11331585,11106728,10814529,10747088,10535737,10477754,9373149,8125298,11222723,9882340,16253302,15681409,12486136,15469849,9653655,9733768,12536145,15569716,16867982,15775984,15143060,14702039,14665628,12773381,11031247,11252894,11694590,20379614,7593184,16162817,19841138 164 NM_001128,NM_001030007,AC009097,AC010653,AJ224112,AJ224113,AJ224114,CH471166,AB015317,AK025020,AK055122,AK128078,AK225906,AK314484,AL110198,BC003414,BC036283,BC051747,BU902252,CR590518,Y12226,AK293233,AK294546,AK299630 NP_001119,NP_001025178,CAA11832,EAW59222,EAW59223,EAW59224,BAA33389,BAG51473,BAG54627,CAB53673,AAH03414,AAH36283,CAA72902,O43747,Q8IY97,Q9BTR5,ACE87658,ACE86968,BAG56772,BAG57752,BAG61558 Hs.461253 ADTG|CLAPG1|MGC18255 AP-1 complex subunit gamma-1|adapter-related protein complex 1 subunit gamma-1|adaptor protein complex AP-1 subunit gamma-1|clathrin assembly protein complex 1 gamma large chain|clathrin assembly protein complex 1 gamma-1 large chain|clathrin-associated/assembly/adaptor protein, large, gamma 1|gamma adaptin|gamma1-adaptin|golgi adaptor HA1/AP1 adaptin gamma subunit|golgi adaptor HA1/AP1 adaptin subunit gamma-1 protein-coding 1313902 AP1G2 adaptor-related protein complex 1, gamma 2 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. There are two alternatively spliced transcript variants of this gene encoding the same protein. [provided by RefSeq] 1580863 20708039,12505986,15231747,9733768,9762922,18029348,18772139,17553870,14702039,14665628,12477932,10477754,11222723,9882340,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,10814529,11333915 8906 NM_003917,NG_011937,AL135999,CH471078,AB015318,AF068706,AK096034,AK123354,AK226158,AK304682,AK307696,AK309103,AK310451,BC051833,BX161425,BX247963,CR594047,CR600746,CR610219,CR613895,CR614596 NP_003908,EAW66132,EAW66134,EAW66138,BAA33390,AAC67390,BAG65453,AAH51833,CAD61898,CAD62302,O75843,Q86U03,Q86V28 Hs.343244 G2AD AP-1 complex subunit gamma-like 2|OTTHUMP00000164600|clathrin-associated/assembly/adaptor protein, large, gamma-2|gamma2-adaptin protein-coding 1316969 AP1M1 adaptor-related protein complex 1, mu 1 subunit The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq] 1580863 14691137,15569716,18057255,17988225,16189514,15489334,15182197,14702039,14608369,20833140,12477932,9812899,9653655,8889548,8810314,7593184,7569928,11222723,9882340,9400603,16253302,11208076,9314527,9052838,9586638,9564030,15681409,12836198,12486136,11463741,9811611,9811606,9736718,12010461,11598115,11591131,11583591,11247301,11157985,11106728,10887964,10809756,10535737,11031247,11252894,11694590,15254094,19060904,19841138 8907 AB209808,AF290613,AK027528,AK297824,BC017469,BQ014582,BU729646,CR613573,CR615625,CR619890,CR623912,DC386056,DQ059565,AK293188,CH471106,NM_001130524,NM_032493,AC020911 EAW84540,BAD93045,AAK28024,BAG56728,BAG60161,AAH17469,AAY54246,Q4TTY5,Q59EK3,Q9BXS5,EAW84539,BAG51337,NP_001123996,NP_115882 Hs.71040 AP47|CLAPM2|CLTNM|MU-1A AP-1 complex subunit mu-1|AP-mu chain family member mu1A|HA1 47 kDa subunit|adaptor protein complex AP-1 mu-1 subunit|adaptor-related protein complex 1 mu-1 subunit|clathrin adaptor protein AP47|clathrin assembly protein complex 1 medium chain 1|clathrin assembly protein complex 1, medium chain|clathrin assembly protein complex AP1, mu subunit|clathrin coat assembly protein AP47|clathrin coat-associated protein AP47|golgi adaptor AP-1 47 kDa protein|golgi adaptor HA1/AP1 adaptin mu-1 subunit|mu-adaptin 1|mu1A-adaptin protein-coding 1354372 AP1M2 adaptor-related protein complex 1, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. [provided by RefSeq] 1580863 11031247,11252894,11694590,17381423,17220478,10338135,15569716,18356317,17261850,17145811,16343431,15489334,14702039,12477932,12134076,12086608,12010461,11573956,11157985,10887964,10640811,10535737,9794796,9714795,9373149,8810314,8125298,7569928,11222723,9882340,16189514,15182197,21048031,17207965 10053 NM_005498,AC011475,CH471106,AF020797,AK023863,AK222946,AK315689,BC003387,BC003612,BC005021,BE044092,CR596228,CR615885 NP_005489,EAW84124,EAW84125,AAD25870,BAD96666,BAG38052,AAH03387,AAH03612,AAH05021,Q53GI5,Q9Y6Q5,BAG51230,ADQ31755 Hs.18894 AP1-mu2|HSMU1B|MU-1B|MU1B|mu2 AP-1 complex subunit mu-2|AP-mu chain family member mu1B|HA1 47 kDa subunit 2|adaptor protein complex AP-1 mu-2 subunit|adaptor-related protein complex 1 mu-2 subunit|clathrin assembly protein complex 1 medium chain 2|clathrin coat assembly protein AP47 2|clathrin coat associated protein AP47 2|clathrin-associated adaptor medium chain mu2|golgi adaptor AP-1 47 kDa protein|golgi adaptor HA1/AP1 adaptin mu-2 subunit|mu-adaptin 2|mu1B-adaptin protein-coding 1314226 AP1S1 adaptor-related protein complex 1, sigma 1 subunit The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq] 15469849,9733768,15569716,19057675,15489334,12853948,12477932,12215646,11707398,10966473,10535737,9847074,9653655,2040623,11222723,9882340,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,7593184,17353931,11031247,11252894,11694590,16548883 1174 NM_001283,AC004876,CH471197,AB015319,AK312151,BC003561,BI597121,BI598615,BI857465,BT006779,CR592205,CR599373,CR601876,CR608060 NP_001274,AAD45829,EAW50198,EAW50199,EAW50200,BAA33391,BAG35085,AAH03561,AAP35425,P61966 Hs.489365 AP19|CLAPS1|FLJ92436|SIGMA1A|WUGSC:H_DJ0747G18.2 AP-1 complex subunit sigma-1A|HA1 19 kDa subunit|OTTHUMP00000211468|OTTHUMP00000211469|adapter-related protein complex 1 sigma-1A subunit|adaptor protein complex AP-1 sigma-1A subunit|clathrin assembly protein complex 1 sigma-1A small chain|clathrin coat assembly protein AP19|clathrin-associated/assembly/adaptor protein, small 1 (19kD)|golgi adaptor HA1/AP1 adaptin sigma-1A subunit|sigma 1a subunit of AP-1 clathrin|sigma-adaptin 1A|sigma1A subunit of AP-1 clathrin adaptor complex|sigma1A-adaptin protein-coding 1348501 AP1S2 adaptor-related protein complex 1, sigma 2 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq] 1580863 15681409,12486136,12836198,11463741,9811611,9811606,9736718,15569716,18428203,17617514,17186471,15489334,12477932,12215646,10966473,10398241,9733768,2040623,11222723,9882340,16253302,11031247,11252894,11694590 8905 BX537780,NM_003916,NG_009274,AC004106,CH471074,AB015320,AF087876,AF091077,AF251295,AK130075,AK296135,AK299921,AK312594,BC001117,BC071867,BI462192,BT006738,CR598546,CR608831 NP_003907,EAW98903,EAW98904,EAW98905,EAW98906,EAW98907,EAW98908,BAA33392,AAP97176,AAC72946,AAG44595,BAH12265,BAG61756,AAH01117,AAH71867,AAP35384,CAD97839,P56377,Q549M9,Q7Z677,ABM81631,ABM84815 Hs.653504,Hs.720688 DC22|MGC:1902|MRX59|SIGMA1B AP-1 complex subunit sigma-2|OTTHUMP00000022980|OTTHUMP00000022981|OTTHUMP00000022982|adapter-related protein complex 1 sigma-1B subunit|adaptor protein complex AP-1 sigma-1B subunit|clathrin adaptor complex AP1 sigma 1B subunit|clathrin assembly protein complex 1 sigma-1B small chain|clathrin-associated/assembly/adaptor protein small 1-like|golgi adaptor HA1/AP1 adaptin sigma 1B subunit|golgi adaptor HA1/AP1 adaptin sigma-1B subunit|sigma 1B subunit of AP-1 clathrin|sigma-adaptin 1B|sigma1B-adaptin protein-coding 1323403 AP1S3 adaptor-related protein complex 1, sigma 3 subunit 1580863 15569716,15489334,12477932,11598180,2040623,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,11031247,11252894,11694590,20379614 130340 NM_001039569,AC012512,AC093884,CH471063,AF393369,AK025338,AK299026,BC009606,BC021898,BE856458,BG177582,BG340480 NP_001034658,AAY24244,AAY24166,EAW70813,EAW70814,EAW70815,EAW70816,AAL09586,BAG61103,AAH09606,AAH21898,Q53R44,Q53T10,Q96PC3 Hs.632555 AP-1 complex subunit sigma-3|OTTHUMP00000164217|adapter-related protein complex 1 sigma-1C subunit|adaptor protein complex AP-1 sigma-1C subunit|clathrin assembly protein complex 1 sigma-1C small chain|golgi adaptor HA1/AP1 adaptin sigma-1C subunit|sigma 1C adaptin|sigma 1C subunit of AP-1 clathrin|sigma-adaptin 1C|sigma1C-adaptin protein-coding 1314769 AP2A1 adaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq] 1580863 12036598,16103193,2014052,10567358,11157096,18524831,18178234,15862967,15489334,15231748,15057824,14702039,14517991,12942088,12775724,12595566,12477932,12429846,12364336,11723124,11598180,11532990,11517213,11423532,11331585,9651214,11302736,11230166,11170396,10966473,10551776,10436022,10336464,9723620,9280305,9049247,8662627,8617812,7791877,7593184,2564002,17108326,9882340,16139856,15020715,12646615,16055064,16169070,16696976,16497223,19116314 160 CR595429,NM_014203,NM_130787,AC006942,AC011495,AC098783,AF289221,CH471177,AK094317,AK124343,AK302005,AL136925,BC014214 O95782,Q8N9K4,ABM83179,ABM86380,NP_055018,NP_570603,AAD15564,AAL11039,AAL11040,EAW52535,EAW52536,EAW52537,BAC04329,BAG63408,CAB66859,AAH14214 Hs.467125 ADTAA|AP2-ALPHA|CLAPA1 100 kDa coated vesicle protein A|AP-2 complex subunit alpha-1|adapter-related protein complex 2 alpha-1 subunit|adaptin, alpha A|adaptor protein complex AP-2 subunit alpha-1|alpha-adaptin A|alpha1-adaptin|clathrin assembly protein complex 2 alpha-A large chain|clathrin-associated/assembly/adaptor protein, large, alpha 1|plasma membrane adaptor HA2/AP2 adaptin alpha A subunit protein-coding 735567 AP2A2 adaptor-related protein complex 2, alpha 2 subunit 1580863 16103193,2014052,10567358,11157096,19359243,19129443,15489334,15231748,14702039,14530274,12477932,12168954,12086608,12057195,12036598,11707398,11470803,10966473,10748223,10477754,10430869,10048485,9723620,9700202,9373149,9195986,9049247,8662627,8617812,8552632,8125298,2564002,17108326,9882340,16139856,15020715,9280305,10809762,11247302,10608806,10910768,16055064,17203073 161 NM_012305,AP006477,AP006623,CH471158,AB020706,AB209422,AF049527,AK001986,AK027640,AK027891,AK075497,AK095725,AK223558,AK293763,AK299364,AL117614,BC006155,BG705558,BI462785 ABM87778,NP_036437,EAX02416,EAX02417,EAX02418,EAX02419,BAA74922,BAD92659,AAC27505,BAG50999,BAB55435,BAC11653,BAD97278,BAH11590,BAH13015,CAB56015,AAH06155,O94973,Q59FN8,Q8N2F8,Q9UFK5,ABM84367 Hs.19121 ADTAB|CLAPA2|HIP9|HYPJ 100 kDa coated vesicle protein C|AP-2 complex subunit alpha-2|HIP-9|adapter-related protein complex 2 alpha-2 subunit|adaptin, alpha B|adaptor protein complex AP-2 subunit alpha-2|adaptor protein complex ap-2, alpha 2 subunit|alpha-adaptin C|alpha-adaptin C; Huntingtin interacting protein J|alpha2-adaptin|clathrin assembly protein complex 2 alpha-C large chain|clathrin-associated/assembly/adaptor protein, large, alpha 2|huntingtin yeast partner J|huntingtin-interacting protein 9|huntingtin-interacting protein J|plasma membrane adaptor HA2/AP2 adaptin alpha C subunit protein-coding 734047 AP2B1 adaptor-related protein complex 2, beta 1 subunit The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20936779,12221107,16103193,2014052,16903783,16581796,16189514,15761153,15592455,15489334,14530274,9651214,12900408,12732633,12477932,12429846,12429842,12419313,12086608,11777907,11170396,10966473,10944104,9707615,8595912,8262066,1969413,17108326,9882340,16139856,15020715,11285224,11463741,9811611,9384576,17353931,10097102,10567358,11157096,12070169,15533940,15897975,16055064,17290217,18843039,19469909,19509056,19615732,19903820 163 CR599737,CR602901,CR749392,M34175,NM_001030006,NM_001282,AC004134,AC006237,AC015911,CH471147,AI691147,AK289528,AK292531,AY341427,BC006201,BC012150,BQ421703,BX643620,AK295667,AK301522,AK304126 CAH18240,AAA35583,P63010,Q68DI0,Q7Z451,Q96EL6,ABM84208,ABM87612,NP_001025177,NP_001273,EAW80133,EAW80134,EAW80135,EAW80136,EAW80137,EAW80138,EAW80139,EAW80140,EAW80141,EAW80142,BAF82217,BAF85220,AAQ20044,AAH06201,AAH12150,BAG58527,BAG63026,BAG65023 Hs.514819 ADTB2|AP105B|AP2-BETA|CLAPB1|DKFZp781K0743 AP-2 complex subunit beta|adapter-related protein complex 2 beta subunit|adaptin, beta 2 (beta)|adaptor protein complex AP-2 subunit beta|beta-2-adaptin|beta-adaptin|clathrin assembly protein complex 2 beta large chain|clathrin-associated/assembly/adaptor protein, large, beta 1|plasma membrane adaptor HA2/AP2 adaptin beta subunit protein-coding 1350921 AP2M1 adaptor-related protein complex 2, mu 1 subunit This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 10567358,11157096,15254094,16055064,16902404,17220478,19578796,19903820,12032142,7989329,8595912,11285224,16103193,2014052,17108328,19419997,18523139,18032517,17290396,17289840,16880396,16723738,16501101,16498080,16263766,16189514,15916959,15911768,15778375,15489334,15182197,12952941,12646615,12644451,12621057,12477932,12421765,12086608,12010461,11742978,11591131,11583591,11247302,10910768,10887964,10593987,9812899,9571248,9256472,9200449,9013859,8491205,8257432,7788527,7569928,17108326,11222723,9882340,9400603,16139856,15020715,16116206,15611114,17666399,18474601,7593184,11454741,15647482,20029029,20485680,11031247,9651214 1173 CR603080,CR604155,CR605056,CR605468,CR606363,CR608244,CR609312,CR610909,CR615014,CR615224,CR619838,CR620955,CR621554,D63475,U36188,NM_004068,NM_001025205,AC131235,CH471052,AK057883,AK294159,AK295999,AK297578,AK297849,AK300228,AK304510,AK310409,BC004996,BC013796,BC014030,BI461415,BT007308,CR590191,CR590275,CR591964,CR592124,CR595581,CR597007,CR597271,CR599939,CR602053,FB336127,HH767466 BAA09762,AAA93254,Q96CW1,ABM83802,ABM86841,NP_004059,NP_001020376,EAW78290,EAW78291,EAW78292,BAG57482,BAG58773,BAH12618,BAG60181,BAG61996,BAG65316,AAH04996,AAH13796,AAH14030,AAP35972,CAR81017,CBX84495 Hs.518460 AP50|CLAPM1|mu2 AP-2 complex subunit mu|AP-2 mu 2 chain|AP-2 mu chain|HA2 50 kDA subunit|OTTHUMP00000210697|OTTHUMP00000210701|adapter-related protein complex 2 mu subunit|adaptin-mu2|adaptor protein complex AP-2 subunit mu|clathrin adaptor complex AP2, mu subunit|clathrin assembly protein complex 2 medium chain|clathrin coat adaptor protein AP50|clathrin coat assembly protein AP50|clathrin coat-associated protein AP50|clathrin-associated/assembly/adaptor protein, medium 1|plasma membrane adaptor AP-2 50 kDa protein|plasma membrane adaptor AP-2 50kDA protein protein-coding 732482 AP2S1 adaptor-related protein complex 2, sigma 1 subunit One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts. [provided by RefSeq] 1580863,737778 10753805,9040778,16103193,2014052,15489334,12477932,12086608,9767099,7593184,2495531,2040623,17108326,9882340,16139856,15020715,17353931,10567358,11157096,16055064 737778 1175 NM_021575,NM_004069,AC008622,AC098794,CH471126,AJ010148,AJ010149,AK312003,BC006337,BF970609,BQ684675,BU564736,CR606916,CR609682,CR610430,H46780,X97074 NP_067586,NP_004060,EAW57448,EAW57449,CAA09018,CAA09019,BAG34941,AAH06337,CAA65782,P53680 Hs.119591 AP17|AP17-DELTA|CLAPS2 AP-2 complex subunit sigma|HA2 17 kDa subunit|adapter-related protein complex 2 sigma subunit|adaptor protein complex AP-2 subunit sigma|clathrin assembly protein 2 small chain|clathrin coat assembly protein AP17|clathrin coat-associated protein AP17|clathrin-associated/assembly/adaptor protein, small 2 (17kD)|plasma membrane adaptor AP-2 17 kDa protein|sigma2-adaptin protein-coding 1321051 AP3B1 adaptor-related protein complex 3, beta 1 subunit This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. [provided by RefSeq] 1580863,1578409 12419313,19246570,19679886,19934039,20379614,9545220,17353931,17622474,9931340,9151686,19481122,19320733,19023099,18410487,18000860,17975119,17569884,17081983,16551969,16537806,16112646,15489334,12477932,12125811,12062430,11877451,11809908,10024875,9373149,9182526,8413179,8125298,11926829,14657250,19841138,19913121,20628086 1578409 8546 NM_003664,NG_007268,AC024568,AC024578,AC104108,AC112197,AF247736,CH471084,AK225908,AK291201,AK303300,AL708147,AY623424,BC020230,BC038444,BX538041,U81504,U91931 NP_003655,AAG01739,EAW95811,EAW95812,EAW95813,BAF83890,BAG64374,AAT49048,AAH38444,CAD97982,AAB61638,AAD03778,O00203,Q3MNE1,ABM85841,ABW03740 Hs.532091 ADTB3|ADTB3A|HPS|HPS2|PE AP-3 complex beta-3A subunit|AP-3 complex subunit beta-1|adapter-related protein complex 3 subunit beta-1|adaptor protein complex AP-3 subunit beta-1|beta-3A-adaptin|beta3A-adaptin|clathrin assembly protein complex 3 beta-1 large chain protein-coding 1319021 AP3B2 adaptor-related protein complex 3, beta 2 subunit Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM] 1580863 7671305,17453999,16788073,15489334,14702039,12565890,12477932,10930456,9707615,9545220,9118953,1851215,11877451,19481122,20531441 8120 NM_004644,AC105339,CH471188,AF022152,AK097827,AK294331,BC008350,BC026700,BC035640,BC093739,BC143342,BC143346,BI914720,CR749860,DQ092369,U37673,FJ695193 NP_004635,EAW62447,AAB71894,BAG53536,BAG57603,AAH93739,AAI43343,AAI43347,CAH18704,AAZ38147,AAC50219,Q13367,Q68CN5 Hs.199593 DKFZp686D17136|NAPTB AP-3 complex subunit beta-2|Neuronal adaptin-like protein, beta-subunit|adapter-related protein complex 3 subunit beta-2|adaptor protein complex AP-3 subunit beta-2|beta-3B-adaptin|clathrin assembly protein complex 3 beta-2 large chain|neuron-specific vesicle coat protein beta-NAP protein-coding 1318559 AP3D1 adaptor-related protein complex 3, delta 1 subunit AP3D1 is a subunit of the AP3 adaptor-like complex, which is not associated with clathrin. The AP3D1 subunit is implicated in intracellular biogenesis and trafficking of pigment granules and possibly platelet dense granules and neurotransmitter vesicles.[supplied by OMIM] 1580863 9303295,9151686,19481122,18034776,17081983,16457822,16162817,15766529,15489334,15469849,15057824,14702039,14657250,12967569,12853575,12477932,11926829,11331585,10559961,9697856,9482728,15681409,12486136,10814565,9182526,17349999,18775314,19851296,20198315,20379614 8943 NM_001077523,NM_003938,AC005257,AC005328,AC005545,CH471139,AB208804,AF002163,AF130042,AK094460,AK128692,AK310099,AK315899,AY954498,BC005142,BC010065,BC022837,BQ227203,U91930 NP_001070991,NP_003929,AAC25623,AAC27670,AAC34212,AAC34214,EAW69412,EAW69416,BAD92041,AAC51761,AAG35473,BAG52868,BAF98790,AAH05142,AAH10065,AAD03777,O14617,Q6PK82,Q9UEA9,Q9UEB0 Hs.512815 ADTD|hBLVR AP-3 complex delta subunit, partial CDS|AP-3 complex subunit delta|AP-3 complex subunit delta-1|adapter-related protein complex 3 subunit delta-1|adaptin, delta|delta adaptin|delta-adaptin, partial CDS|subunit of putative vesicle coat adaptor complex AP-3 protein-coding 734238 AP3M1 adaptor-related protein complex 3, mu 1 subunit The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 1580863 10024875,15489334,15342556,14702039,12477932,11827452,11742978,11071902,10737800,9794796,9714600,9482728,8889548,15681409,11463741,10814565,12853575,16385451,19481122,19615732,15254094,9182526,19116314 26985 NM_012095,NM_207012,AL731576,CH471083,AF092092,AI610802,AK001565,AK026983,AK299352,AK315597,AL133610,AL833820,AV722897,AW069033,BC026232,BC067127,BE706537,BM463185,BP230128,BU172918,BU430175,BU679701,CR603917,CR618570,HH767468,FB336129 NP_036227,NP_996895,CAI39670,EAW54552,EAW54553,EAW54554,AAD20446,BAB15614,BAG61348,CAD38682,AAH26232,AAH67127,Q8NDP0,Q9Y2T2,ABM84038,ABM87385,ABW03569,CBX84496,CAR81018 Hs.500104 MGC22164 AP-3 adapter complex mu3A subunit|AP-3 complex subunit mu-1|OTTHUMP00000019860|adapter-related protein complex 3 mu-1 subunit|adaptor-related protein complex ap-3, mu 1 subunit|clathrin adaptor complex AP3, mu-3A subunit|mu-adaptin 3A|mu3A-adaptin protein-coding 735940 AP3M2 adaptor-related protein complex 3, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 19481122,17293072,15489334,12477932,8076832,7601449,1602151,9400603 10947 NM_006803,NM_001134296,AC103724,CH471080,AA854640,AK315228,BC021966,BC056257,BC056398,BI461390,BX648354,BX648390,CR608528,CR610500,D38293,FB336135,HH767474 NP_006794,NP_001127768,EAW63236,EAW63237,EAW63238,BAG37657,AAH56257,AAH56398,BAA07415,P53677,Q7Z472,ACE87551,ACE86863,CAR81021,CBX84499 Hs.654529 AP47B|CLA20|P47B AP-3 complex subunit mu-2|HA1 47 kDa subunit homolog 2|HA1 47kDA subunit homolog 2|adapter-related protein complex 3 mu-2 subunit|clathrin assembly protein assembly protein complex 1 medium chain homolog 2|clathrin coat assembly protein AP47 homolog 2|clathrin coat-associated protein AP47 homolog 2|clathrin-associated protein AP47 homolog 2|golgi adaptor AP-1 47 kDA protein homolog 2|mu3B-adaptin protein-coding 1322400 AP3S1 adaptor-related protein complex 3, sigma 1 subunit 1580863 9118953,9792713,8697810,15489334,15469849,14702039,14657250,12967569,12477932,12370188,9151686,20379614,20512086,16162817 1176 CR615273,CR623389,D63643,U91932,X99458,AC010282,AC026449,CH471086,NM_001284,AK124911,AK126876,AK311843,BC000804,BC012614,BI600357,BT009833,BX647735,CR450341,CR591574,CR595287,CR596799,CR599187,CR601773,CR604745,CR612748,CR614149 BAA09798,AAD03779,CAA67823,Q92572,ABM82124,ABM85307,NP_001275,EAW48952,EAW48953,BAG34785,AAH00804,AAP88835,CAG29337 Hs.406191 CLAPS3|Sigma3A AP-3 complex sigma-3A subunit|AP-3 complex subunit sigma-1|AP-3 complex subunit sigma-3A|adapter-related protein complex 3 sigma-1 subunit|clathrin-associated/assembly/adapter protein, small 3|clathrin-associated/assembly/adaptor protein, small 3 (22kD)|sigma-3A-adaptin|sigma-adaptin 3a|sigma3A-adaptin protein-coding 1350010 AP3S2 adaptor-related protein complex 3, sigma 2 subunit 1580863 9118953,16344560,15489334,15469849,14702039,12967569,12477932,12019270,11907283,9373149,9182526,8125298,11926829,20966410 10239 NR_023361,AC018988,AC027176,CH471101,AK222698,AK294712,AK312467,AL109702,AL110108,AW402906,BC002785,BC007773,BC010020,NM_005829,BC010615,BX098014,CR597548,CR601620,CR607297,CR617364,CR622596,DA268327,DA337392,DA464242,DA752479,DB322370,DC340463,DC410373,DR158459,X99459,DA777624,NR_037582 NP_005820,EAX02071,EAX02072,EAX02073,EAX02074,EAX02075,BAD96418,BAG57864,BAG35374,AAH02785,AAH07773,AAH10020,CAA67824,P59780,Q53H83,Q6PK37,ABM83908,ABM87229 Hs.632161 AP3S3|FLJ35955|sigma3b AP-3 complex sigma-3B subunit|AP-3 complex subunit sigma-2|AP-3 complex subunit sigma-3B|adapter-related protein complex 3 sigma-2 subunit|adaptor complex sigma3B|clathrin-associated/assembly/adaptor protein, small 4, 22-kD|sigma-3B-adaptin|sigma-adaptin 3b|sigma3B-adaptin protein-coding 1321485 AP4B1 adaptor-related protein complex 4, beta 1 subunit The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1; MIM 607244), a medium chain, mu-4 (AP4M1; MIM 602296), and a small chain, sigma-4 (AP4S1; MIM 607243).[supplied by OMIM] 1580863 17353931,10066790,16710414,15489334,14702039,12477932,12419313,11409905,10436028 10717 NM_006594,AL137856,CH471122,AB209817,AF092094,AK001045,AK057567,AK093740,AK300204,AK314641,BC014146,DC367373,DC390197,AK298037 NP_006585,CAI19071,CAI19072,CAI19073,CAI19074,CAI19075,EAW56578,EAW56579,EAW56580,EAW56581,BAD93054,AAD20448,BAG52756,BAG61975,BAG37203,AAH14146,Q9Y6B7,BAH12709 Hs.515048 BETA-4 AP-4 adapter complex subunit beta|AP-4 complex subunit beta-1|OTTHUMP00000013726|OTTHUMP00000013730|adapter-related protein complex 4 subunit beta-1|beta 4 subunit of AP-4|beta subunit of AP-4|beta4-adaptin protein-coding 1343936 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1; MIM 607245) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1; MIM 602296), and a small chain, sigma-4 (AP4S1; MIM 607243).[supplied by OMIM] 1580863 10436028,15489334,12477932,11707398,11409905,10066790 23431 NM_007347,AC021752,AC022407,AC073964,CH471082,AB030653,AF155156,AK297290,AK308644,AL355694,BC015224,BC040044,BC040045,BC126308,BC130466,BC144025,BC144030,CR627314,CR749604 NP_031373,EAW77411,BAA82969,AAD43326,BAG59760,AAI26309,AAI30467,CAH18399,Q68D31,Q9UPM8,ADR83286 Hs.413366 DKFZp686L12167 AP-4 adapter complex subunit epsilon|AP-4 complex subunit epsilon-1|AP-4-EPSILON|adapter-related protein complex 4 subunit epsilon-1|adaptor-related protein complex AP-4 epsilon|epsilon subunit of AP-4|epsilon-adaptin protein-coding 1321015 AP4M1 adaptor-related protein complex 4, mu 1 subunit This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq] 1580863 10066790,19559397,18341993,14702039,12690205,12477932,11802162,11707398,11139587,10436028,9794796,9013859,14572453,15254094,17207965 9179 AK296651,AK304489,AK315782,BC012023,BC018705,BX640759,CR590642,CR595500,CR611943,CR621800,CR625474,CR625655,DC413622,Y08387,NG_016312,NM_004722,AC073842,CH236956,CH471091,AF020796,AF155158,AK055686,AK293590 BAG59249,BAG65298,AAH18705,CAE45865,CAA69667,O00189,Q6N009,BAG57057,NP_004713,EAL23854,EAW76594,EAW76595,EAW76596,EAW76597,AAD25869,AAD43328,ADQ32212 Hs.632317 CPSQ3|MU-4|MU-ARP2 AP-4 complex subunit mu-1|OTTHUMP00000206588|OTTHUMP00000206591|OTTHUMP00000206630|OTTHUMP00000206943|OTTHUMP00000206944|adapter-related protein complex 4 mu-1 subunit|adaptor-related protein complex AP-4 mu4 subunit|mu subunit of AP-4|mu-adaptin-related protein 2|mu-adaptin-related protein-2|mu4|mu4-adaptin protein-coding 1348189 AP4S1 adaptor-related protein complex 4, sigma 1 subunit The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1; MIM 607245) and epsilon-4 (AP4E1; MIM 607244), a medium chain, mu-4 (AP4M1; MIM 602296), and a small chain, sigma-4 (AP4S1).[supplied by OMIM] 1580863 10436028,14702039,12477932,10066790 11154 BX247969,CR457100,CR592542,CR606567,CR606742,NM_001128126,NM_007077,AL121808,CH471078,AB030654,AF155159,AK056928,AK304115,AK316517,BC001259,BC035622,BG702035,BT006701 CAD62307,CAG33381,Q86U36,Q9Y587,ABM81633,ABM84817,NP_001121598,NP_009008,EAW65953,EAW65954,EAW65955,EAW65956,EAW65957,EAW65958,BAA82970,AAD43329,BAG65016,BAH14888,AAH01259,AAP35347 Hs.293411 AP47B|CLA20|CLAPS4|FLJ32366 AP-4 adapter complex subunit sigma-1|AP-4 complex subunit sigma-1|adapter-related protein complex 4 subunit sigma-1|clathrin-associated/assembly/adaptor protein, sigma 4|sigma-1 subunit of AP-4|sigma-4-adaptin|sigma4-adaptin protein-coding 733293 APAF1 apoptotic peptidase activating factor 1 This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq] 2313998,1580863,704404,2325742,2325748,2325750,2325739,2325745,2292105,2325751 20345447,18029348,20959405,15009102,10383829,9267021,10949025,9753320,10441496,9390557,9922454,19238172,19141860,19074885,19058789,18834886,18676680,18587251,18719738,18439902,18373966,18093951,18042457,17885667,17882496,17876870,17603079,17541304,17534194,17361096,17348858,17133271,17081983,16951219,16595687,16420245,16331630,16232302,16231040,16098052,16046141,15972851,15863166,15832175,15832174,15703181,15692060,15649154,15590702,15378005,15305193,15262985,15033720,15026369,14993223,14747474,14566819,12963020,12804598,12637514,12615903,12168954,12149244,12147322,12021264,11864614,11550094,11457460,11389439,11230124,11113115,10934467,10764728,10722681,10702682,10578182,10543941,10486928,10393175,10376594,10364241,10322433,10206961,9878060,9837928,9829980,9651578,9539746,9488720,9455477,15103018,15829969,20977544,12477932,15735003,16979168,17274640,17418785,19170196,19455599,19603830,19625176,19675677,19692168,19801675,19809088,20379614,20453000,19913121,20628086 2313998,2325742,2325748,2325750,2325739,2325745,2292105,2325751 317 NM_181861,NM_181868,NM_181869,NM_013229,NM_001160,AB070829,AC011248,AC013283,AJ133643,AJ133644,AJ133645,CH471054,AB007873,AB103079,AF013263,AF134397,AF149794,AF248734,AJ243003,AJ243004,AJ243005,AJ243006,AJ243007,AJ243008,AJ243009,AJ243010,AJ243011,AJ243048,AJ243107,AK307509,BC136531,BC136532,BC150255,EF560718 NP_863651,NP_863658,NP_863659,NP_037361,NP_001151,CAB65085,CAB65086,CAB65087,EAW97603,EAW97604,EAW97605,EAW97606,EAW97607,EAW97608,EAW97609,EAW97610,EAW97611,BAA24843,BAC77343,AAC51678,AAD38344,AAD34016,AAK28401,CAB55579,CAB55580,CAB55581,CAB55582,CAB55583,CAB55584,CAB55585,CAB55586,CAB55587,CAB55588,CAB56462,AAI36532,AAI36533,AAI50256,ABQ59028,O14727 Hs.552567 APAF-1|CED4|DKFZp781B1145 apoptotic protease activating factor 1|apoptotic protease-activating factor 1 protein-coding 732461 APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq] 1300048,704404,1580863 20531236,8887653,9822620,9753324,9614075,18836734,16413130,16344560,15699037,15563604,15164053,15024025,14970211,14960569,14756819,12970358,12849748,12514209,12196555,12177192,12093160,12016213,12006486,11115513,11083918,11036064,11010978,10455105,9952408,9585438,9395480,9321393,7719031,7678331,7545337,1968060,20160714,19720620,20016085,20379614,20468060 320 AL162412,AL162421,AL353693,AL355140,CH471089,Z32676,AF029106,AF047347,AL713639,BF435835,BQ269294,DA179202,DA313538,L04953,NM_001163,AC208386 NP_001154,CAH74104,CAI15443,EAW62486,EAW62487,AAC05304,AAC39766,AAA61307,Q02410,AAI56048,AAI57031 Hs.171939,Hs.592974 D9S411E|LIN10|MINT1|X11|X11A|X11ALPHA adapter protein X11alpha|adaptor protein X11alpha|amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)|amyloid beta A4 precursor protein-binding family A member 1|mint-1|neuron-specific X11 protein|neuronal munc18-1-interacting protein 1|phosphotyrosine-binding/-interacting domain (PTB)-bearing protein protein-coding 733396 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,704404 10833507,9890987,19222704,19197363,17989066,15699037,15563604,15345747,14970211,12972431,12780348,12720574,12477932,11083918,11036064,10827173,10777610,10336668,9860131,9822620,9614075,9585438,9395480,9110174,8955346,8889548,8619474,7545337,12196555,15037614,17332754,19615732,19736351,19744962,20015385,20016085,20029827,20379614 321 NM_005503,NM_001130414,AC024474,AC127522,CH471205,AB014719,AB209281,AF029108,AF047348,AK124794,AK310413,BC007794,BC082986,BM665057,BX332225,CR604096,U79255 NP_005494,NP_001123886,EAW51516,BAA34734,BAD92518,AAC05306,AAC39767,BAC85951,AAH82986,AAB50203,Q59G28,Q5XKC0,Q6ZVB1,Q99767 Hs.618112,Hs.721380 D15S1518E|HsT16821|LIN-10|MGC99508|MGC:14091|MINT2|X11-BETA|X11L X11-like protein|adapter protein X11beta|amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)|amyloid beta A4 precursor protein-binding family A member 2|mint-2|neuron-specific X11L protein|neuronal munc18-1-interacting protein 2|phosphotyrosine-binding/-interacting domain (PTB)-bearing protein protein-coding 737449 APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq] 1580863 19726677,20016085,10049767,18544638,17959829,15494376,15489334,15057824,14990567,12477932,11831025,11440799,10574372,9860131,8889548,12196555,20677014 9546 NM_004886,AB023431,AB024411,AC005954,CH471139,AB021638,AB209603,AF029110,BC008338,BC086306,BG938716,BI910038,BM977984,BQ707748,CR623670 NP_004877,BAA83094,BAA83517,AAC72275,EAW69290,EAW69291,BAA74430,BAD92840,AAC17979,AAH86306,O96018,Q59F58,Q9UPY9,Q9UPZ2 Hs.25527,Hs.465607 MGC:15815|X11L2|mint3 X11-like 2 protein|adapter protein X11gamma|amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2)|amyloid beta A4 precursor protein-binding family A member 3|mint-3|neuron-specific X11L2 protein|neuronal munc18-1-interacting protein 3|phosphotyrosine-binding/-interacting domain (PTB)-bearing protein protein-coding 1349313 APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants have been described for this gene but some of their full length sequence is not known. [provided by RefSeq] 1580863,2301212,2301208 9585438,9461550,9407065,9045663,8955346,8887653,10081969,8855266,11115513,20568118,20091743,18468999,8894693,19234442,12843239,18922798,18833287,18800165,18777128,18550529,18480379,17855370,17854420,17686488,17590240,17512906,17368826,16713569,16332686,16223726,15816856,15647266,15489334,15146195,15044485,15037614,14572442,14569203,12888553,12779321,12727304,12653567,12477932,12150997,12089154,11854179,11741599,11606623,11517249,11441186,11436125,11279131,11099823,11095528,11085987,11065130,11029529,10945997,10561691,10075692,9837937,9799084,9738440,9685356,16055720,17332754,19343227,19381069,20405578,19913121,20628086 2301212,2301208 322 NM_145689,NM_001164,AC068733,AC084337,AF029233,AF029234,AF047835,CH471064,AF394214,AK293452,AK293550,AK293554,AK293613,AK293643,AK293711,AK294495,AK295241,AK295425,AK295837,AK297544,AK297550,AK308559,AK308782,AK309000,AK309434,AK309445,AK311091,AK311101,AK311141,AK311149,AK311413,AK311725,AK315965,BC010854,BX538185,CR596180,CR606715,EF103274,L77864 NP_663722,NP_001155,AAC79942,EAW68722,EAW68723,EAW68724,EAW68725,AAL79526,BAH11511,BAH11531,BAH11532,BAH11546,BAH11554,BAH11576,BAH11788,BAH12016,BAH12063,BAH12612,BAH12615,BAH14336,AAH10854,CAD98057,ABL07489,AAB93631,O00213,Q7Z324,Q8TEY4,ABM81923,ABM85101,BAH12197 Hs.372840 FE65|MGC:9072|RIR adaptor protein FE65a2|amyloid beta A4 precursor protein-binding family B member 1|amyloid beta A4 precursor protein-binding, family B, member 1|stat-like protein protein-coding 1312445 APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 2300340,1580863 8631894,19098287,17373700,15642358,15489334,15469846,15164054,14530287,12477932,9407065,16005629,16385451,16581250,19041431,19952372,20379614 2300340 54518 BM556115,CR597342,AL160287,AL355798,CH471072,AB085852,AK000812,AK303597,AK308916,AY152730,BC035636,BC054516,BM150270,NM_019043 Q7Z5R6,Q8IYL7,Q9NWJ6,NP_061916,CAH70337,CAH70339,EAW86095,EAW86096,EAW86097,EAW86098,EAW86099,BAC41256,BAA91384,BAG64612,AAN75525,AAH35636,AAH54516 Hs.310421 INAG1|PREL1|RARP1|RIAM APBB1-interacting protein 1|PREL-1|RARP-1|Rap1-interacting adaptor molecule|amyloid beta A4 precursor protein-binding family B member 1-interacting protein|proline rich EVH1 ligand 1|proline-rich EVH1 ligand 1|proline-rich protein 73|rap1-GTP-interacting adapter molecule|retinoic acid-responsive proline-rich protein 1 protein-coding 1342475 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. [provided by RefSeq] 1580863 8855266,18852029,17567906,16344560,16083851,15714520,15489334,14527950,12477932,12089154,9585438,8955346,15761153,19542221,20677014 323 AC093804,AC096712,AC108937,AC131953,CH471069,AK024871,AK226179,AK289838,AK295974,AK299800,AK304247,AL080130,AL596608,AL600779,BC027946,BC088372,BM546260,CF552608,CR607261,CR620312,CR621132,DA603009,DB236935,NM_173075,BU184203,BX440903,CX782504,DC372060,DC377357,DC377693,DC400218,NG_013337,NM_001166050,NM_001166051,NM_001166052,NM_001166053,NM_001166054,NM_004307 NP_775098,EAW92975,EAW92976,EAW92977,BAF82527,BAG58750,BAG61676,BAG65114,AAH27946,AAH88372,Q5I0G1,Q92870,ABM82479,ABM85666,NP_001159522,NP_001159523,NP_001159524,NP_001159525,NP_001159526,NP_004298 Hs.479602 DKFZp434E033|FE65L|FE65L1|MGC35575 Fe65-like 1|OTTHUMP00000218168|OTTHUMP00000218169|OTTHUMP00000218170|OTTHUMP00000218871|amyloid beta A4 precursor protein-binding family B member 2|protein Fe65-like 1 protein-coding 733384 APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 10081969,18029348,15489334,14702039,14527950,12477932,12153398,10329396,9407065,16169070 10307 NM_133172,NM_133174,NM_006051,NM_133173,AB024745,AC005214,AC011399,CH471062,CQ783896,AB018247,AB049618,AB061224,AB079687,AB094990,AB209839,AF224708,AF224709,AF224710,AF224711,AK074885,AK075280,AK304824,AK125244,AK307170,BC013158,BC125187,BF448559 NP_573418,NP_573420,NP_006042,NP_573419,BAA78674,EAW62041,EAW62042,EAW62043,EAW62044,EAW62045,EAW62046,EAW62047,EAW62048,EAW62049,EAW62050,CAF86913,BAA35188,BAB40806,BAB71767,BAC56948,BAC22578,BAD93076,AAF65172,AAF65173,AAF65174,AAF65175,BAG52024,BAG52101,BAG65572,BAG54172,AAH13158,AAI25188,O95704,Q54A46,Q59EH2,Q86Z13,Q96DX9,Q96Q18,Q9BYD4 Hs.529449 FE65L2|MGC150555|MGC87674|SRA FE65-like protein 2|OTTHUMP00000223853|amyloid beta A4 precursor protein-binding family B member 3|amyloid precursor interacting protein|protein Fe65-like 2 protein-coding 736624 APC adenomatous polyposis coli This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq] 734579,2293188,1331525,1580863,2317199,2317202,2317200,2317207,2317191,2317198,2317208,2317205,2317206 19615284,20696900,10773885,11533658,11166179,16188939,8638126,11972058,9601641,11035805,8521819,17570218,17227893,17192415,11283619,14728717,12955080,11955436,12000790,12820959,15327769,16753179,12072559,19694001,12034871,11956815,11933206,11921277,11920497,11912492,11891193,11868006,11856748,11809682,11809680,11768390,11768389,11754114,11751382,11748858,11741105,11720476,11707392,11696170,11668620,11606402,11584047,11535846,11487578,11487538,11483640,11470413,11466700,11409872,11389840,11354631,11297546,11241666,11241320,11221825,11159880,11157977,11129339,11076863,11050185,11029657,10982189,10966653,10947987,10926498,10811618,10782927,10749862,10666372,10470088,10426194,10188731,9973276,9950360,9811605,9731533,9731522,9724771,9660858,9637688,9419979,9375853,9326658,9286858,9188857,9110174,8990002,8940264,8889548,8638125,8619474,8383094,8259519,8259518,12387883,12378616,12374230,12173321,12173026,12163385,12136240,12124804,12093899,12070164,12057910,12045208,8252630,8111410,7833931,7833149,7744883,7661930,3789010,2797819,1678319,1651563,1651562,1338904,1338764,1338691,1310068,10330181,12628243,11712088,11251183,9734785,8074697,7651399,7606712,11585828,15778465,8389242,15572129,15525529,15294866,20229069,20800603,20844743,20924072,20333795,16199882,16510874,20887112,20936779,9707618,20850014,10330403,20371677,20434453,19617769,12388762,18433509,18418860,18406876,18403596,18393246,18393237,18387968,18384130,18375958,18369740,18343606,18337602,18321998,18265644,18224684,18199528,18166348,18160396,18091433,18066497,18063416,18058812,18027849,18026870,17973119,17968317,17964080,17963004,17960617,17954272,17952864,17947477,17920230,17910481,17905526,17882487,17854661,17704924,17665205,17653897,17620292,17572842,17569124,17558858,17556698,17506007,17505512,17489848,17486639,17454753,17418091,17411426,17410430,17368237,17360132,17297457,17255093,17252231,17221838,17189293,17176113,17143620,17143298,17135276,17126424,17119068,17116713,17081983,17080006,17039269,17028196,16981189,16964243,16951153,16855398,16843107,16820884,16804979,16798748,16763565,16710723,16699861,16699180,16680592,16650078,16619216,16569251,16545110,16537703,16525027,16461775,16450383,19606680,19593690,19576224,19571702,19543899,19531215,19527492,19515250,19474113,19470943,19453261,19450512,19378335,19351817,19337631,19309276,19307944,19261806,19196998,19169759,19164452,19124205,19111562,19110823,19064572,19061640,19036155,19035518,19029688,19026650,19013464,18992635,18992263,18987576,18982352,18977219,18955873,18854359,18847451,18844223,18841156,18807072,18774639,18770064,18708403,18676680,18662849,18662704,18632987,18632876,18632657,18632633,18630182,18629513,18617334,18612690,18519734,18498351,18485586,18483325,18477604,18474248,18454178,18451217,16433700,16426911,16423286,16411234,16407829,16382042,16356174,16344560,16322291,16228836,16201232,16184469,16163548,16142311,16088911,16030254,15981102,15959913,15952110,15951963,15943410,15929773,15833136,15832580,15824157,15821699,15768050,15761860,15755874,15754020,15733272,15689459,15640937,15639864,15591320,15561772,15548520,15542524,15540296,15523694,15520370,15507235,15459959,15446460,15375803,15355978,15331612,15326380,15273719,15266213,15257316,15251938,15190067,15133491,15122587,15108288,15040027,15020226,14991743,14961559,14871261,14729851,14691304,14679305,14672538,14662741,14624392,14579148,14578138,14578136,14574158,14573780,14520463,14514668,12907646,12901799,12856637,12800196,12800081,12737446,12655564,12647217,12606575,12584179,12581900,12575848,12538344,12537656,12508668,12504226,12485844,12477932,12439748,20840677,21078161,10092233,10656683,10698523,10951583,11136974,11348595,11943150,12952940,15327768,16293619,16329837,16611247,17218255,17222366,17562260,17562262,17588722,17927853,18281465,18486530,18502210,18646694,19170196,19426738,19444466,19448414,19506903,19525225,19527921,19584833,19615732,19625176,19632184,19654215,19672874,19679059,19692168,19701947,19703905,19728755,19768578,19773381,19777185,19793053,19845967,19888426,19889076,19900189,19900451,19912361,19928347,19928349,19928352,19928354,19966865,20007843,20027139,20033212,20056645,20063100,20092957,20149637,20237496,20352275,20437058,20453000,20510605,20513532,7890674,9298899,9482734,20473645,20519433,20658693,15342556,19913121,20544848,20570909,20613673,20628086,20696710,18070451,16510875,20208994,20971552 734579,2293188,1331525,2317199,2317202,2317200,2317207,2317191,2317198,2317208,2317205,2317206 324 NM_001127510,NM_000038,NG_008481,AC008575,AC136500,AF127506,AF297219,AY682982,AY900441,AY925197,S78214,AB210001,AF038181,AI492038,AK289567,AK294544,AK309033,BC034955,BC056268,BE047584,BF112110,BG548363,BM271918,BM713901,BM975470,CA313732,DA777787,DA795663,M73548,NM_001127511,M74088,S67787,S67788,BP230350 NP_001120983,NP_001120982,NP_000029,AAF34355,AAG25599,AAT81590,AAW82777,AAX07544,AAB21145,BAE06083,BAF82256,BAH11802,AAH56268,AAA60353,AAA60354,AAA03586,AAD13997,AAD13998,P25054,Q16097,Q4LE70,Q5EBR9,Q5EEK4,Q6B4H6,Q7Z2Q8,Q9HAW6,Q9P119,Q9UM98,AAI11463,AAI11592,AAI11931 Hs.158932,Hs.637001 BTPS2|DP2|DP2.5|DP3|GS OTTHUMP00000222839|adenomatosis polyposis coli|adenomatosis polyposis coli tumor suppressor|adenomatous polyposis coli protein|deleted in polyposis 2.5 protein-coding 1317926 APC2 adenomatosis polyposis coli 2 1580863 9823329,18157572,12477932,11691822,10644998,10021369,12956947,20826619,10646860,19913121,20628086,10330403,10922056,20237496 10297 CR600190,AB022529,AC027307,AF110335,AF110337,AF110338,AJ131187,CH471139,AB012162,AF110334,AF128222,NM_005883,AJ012652,AL078616,BC020381,BC032573 O95996,Q9UNL8,NP_005874,BAA75469,AAD29273,AAD29274,AAD29275,CAA10317,EAW69496,EAW69497,EAW69498,BAA34611,AAD28183,AAF01784,CAB61207,AAH32573 Hs.446376 APCL APC-like|adenomatous polyposis coli like|adenomatous polyposis coli protein 2|adenomatous polyposis coli protein-like protein-coding 1351282 APCDD1 adenomatosis polyposis coli down-regulated 1 1580863 20200978,20379614,20393562,15498874,15489334,12477932,12384519 147495 NG_027685,NM_153000,AP001099,CH471113,CQ756578,AB056722,AB104887,AF461902,AK300743,AK303076,AL110199,BC053324,CR592932 NP_694545,EAX01585,EAX01586,CAF32599,BAC15563,BAC65165,AAQ04816,BAG62412,BAG64192,AAH53324,Q8J025 Hs.293274 B7323|DRAPC1|FP7019 adenomatosis polyposis coli down-regulated 1 protein|protein APCDD1 protein-coding 1605849 APCDD1L adenomatosis polyposis coli down-regulated 1-like 16303743,15489334,15465500,14702039,12477932,11780052,20838585,20379614 164284 NM_153360,AL118513,CH471077,CQ782621,AK074647,AK293299,BC101758,BC101760 NP_699191,CAI22411,EAW75491,EAW75492,CAF85886,BAC11111,BAG56820,AAI01761,Q8NCL9,AAI01759 Hs.119286 FLJ90166|MGC126807|MGC126809|RP4-685L9.2 adenomatosis polyposis coli down-regulated 1 protein-like|protein APCDD1-like protein-coding 68444 APCS amyloid P component, serum The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq] 1580863,1300286 11441067,11359830,10631319,9217261,8999915,8662978,8417122,8202534,8144569,8114934,7592941,4055725,3915434,3759147,3211159,3172210,3029048,1602151,1477104,81686,11984001,10812074,2987268,10972085,14718574,19052452,19011614,18174230,17676666,17630380,17530641,17138933,16784490,16710414,16643876,16380821,16335952,15837583,15649951,15489334,15174148,15031287,14607961,14519527,14500533,12767937,12528126,12477932,12432394,12126626,12100475,12015594,20189569,19948975,20237496,20300636 1300286 325 NM_001639,AL445528,CH471121,D00097,BC007039,BC007058,BC070178,BT006750,CR450313,M10944,X04608,HC250941,HC311130 NP_001630,CAH73651,EAW52781,BAA00060,AAH07039,AAH07058,AAH70178,AAP35396,CAG29309,AAA60302,CAA28275,P02743,CBJ05768,CBJ21220 Hs.507080 MGC88159|PTX2|SAP 9.5S alpha-1-glycoprotein|pentaxin-related|serum amyloid P-component|serum amyloid p-component protein-coding 735668 APEH N-acylaminoacyl-peptide hydrolase This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq] 1580863 18029348,2006156,16189514,15862967,15489334,12477932,12000146,11921441,10719179,10407158,10395453,8724851,8411161,2565880,2392324,1861871,1740429,1521574,16169070,20307617,20529763 327 NM_001640,NG_011438,AC099668,CH471055,AF141383,AK314962,BC000362,BC001499,BC001826,CR605044,CR618744,D38441 NP_001631,EAW64994,EAW64995,EAW64996,EAW64997,EAW64998,AAF37321,AAH00362,AAH01499,AAH01826,BAA07476,P13798,ABM82344,ABM85518 Hs.517969 ACPH|APH|D3F15S2|D3S48E|DNF15S2|MGC2178|OPH AARE|OTTHUMP00000210908|acyl-peptide hydrolase|acylamino-acid-releasing enzyme|acylaminoacyl-peptidase|oxidized protein hydrolase protein-coding 1606343 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq] 2315676,2315657,2315665,2315666,2315662,2315686,2315670,2315671,2315672,2315673,2315675,2315878,2315663,2315667,2315656,2315660,2315661,2302852,1599366,2315691 18263880,18208837,18206643,18179823,18091433,18061304,18053222,18042731,18025089,17991492,17984110,17974506,17949784,17938202,17922186,17898541,17855454,17685223,17630376,17614107,17599408,17567611,17567600,17555083,17531525,17515960,17479230,17403694,17374727,17355977,17332344,17324338,17283177,17272283,17230526,17222938,17218168,17203305,17197435,17177211,17126083,17040931,17034901,17028303,16982113,16973282,16966185,16962936,16956909,16889694,16844323,16621887,16609022,16554306,16537925,16492928,16481390,16481227,16406883,16356936,16284386,16221808,16195237,16147991,16000577,15942031,15887293,15878096,15831793,15824742,15824325,15816625,15746160,15731342,15706084,15694346,15674341,15644200,15635413,15592455,15489334,16425270,15472121,15459284,15380100,15362040,15333465,15316562,15247342,15210853,15113441,15107486,15084314,15044328,14767913,14730972,14704345,11286553,9119221,1722334,12524539,15518571,7961715,10805771,1380454,18029348,9207062,10559261,11250913,19528510,19449863,19414392,19393248,19369898,19367277,19339270,19242824,19237606,19219073,19188445,19188437,19181704,19147860,19124501,19124499,19116388,19097035,19074850,19073198,19064572,19052983,19041121,19038866,19029194,18990748,18983843,18971960,18958420,18946634,18830263,18823566,18809583,18805789,18779313,18776186,18712175,18701435,18676680,18672023,18669164,18627350,18627000,18515104,18505345,18503157,18482781,18478337,18466396,18439621,18436236,18393760,18357393,18353858,18324520,14643949,14633989,14630715,14625810,14599768,14594818,14581338,14521941,12966083,12933815,12860125,12857737,12842873,12628186,12624104,12569263,12555094,12547389,12519758,12480540,12477932,12384995,12242029,12237116,12231548,12230304,12200445,12161506,12110916,12058277,11895912,11866537,11846302,11809897,11707423,11705870,11601988,11452037,11182545,11133992,11118054,11096142,11092888,11084372,11073998,10946230,10667800,10629618,10594042,10585464,10023679,9870152,9361024,9351835,9110174,9108029,8942627,17148573,19934257,20808930,19764832,11832948,19401441,20493910,20534262,20919954,9560228,20606276,8932375,8621488,8619474,8086453,1719477,1627644,1383925,1380694,1371347,1284593,20498636,11478795,16978929,19170196,19292061,19324449,19351502,19376732,19460860,19470598,19484131,19492297,19524065,19536092,19541747,19592152,19625176,19631633,19692168,19711438,19762350,19782121,19787261,19789190,19846872,19896490,19902366,20010699,20032196,20061190,20087352,20133634,20150366,20218738,20218899,20223788,20226869,20231292,20232390,20332233,20354815,20377204,20391347,20403997,20453000,20496165,20522537,20530453,20540786,19643912,20955519,20574454,20601096,20634891,20644561,20720310,20817763,20577654,20211142,20679741,20731661,20852942,21037106 2315676,2315657,2315665,2315666,2315662,2315686,2315670,2315671,2315672,2315673,2315675,2315878,2315663,2315667,2315656,2315660,2315661,2302852,1599366,2315691 328 NM_080649,NM_080648,NG_008718,AF488551,AL355075,CH471078,D13370,M92444,M99703,X66133,AK098588,AK291100,BC002338,BC004979,BC008145,BC019291,BC095428,BT007236,BT020133,BX161454,CR593576,CR594100,NM_001641,CR594913,CR595578,CR597601,CR599111,CR603451,CR603476,CR603764,CR605079,CR605968,CR607088,CR608824,CR609502,CR610342,CR611116,CR611978,CR613058,CR617692,CR618727,CR620565,CR622630,CR623328,D90373,M80261,M81955,S43127,U79268,X59764 NP_001632,NP_542380,NP_542379,AAL86909,EAW66463,EAW66464,EAW66465,EAW66466,EAW66467,EAW66468,BAA02633,AAA58629,AAA58373,CAA46925,BAF83789,AAH02338,AAH04979,AAH08145,AAH19291,AAH95428,AAP35900,AAV38935,CAD61917,BAA14381,AAA58371,AAA58372,AAB22977,AAB50212,CAA42437,P27695,Q5TZP7,ABM82740,ABM85924 Hs.73722 APE|APE1|APEN|APEX|APX|HAP1|REF1 AP endonuclease 1|AP endonuclease class I|AP lyase|DNA-(apurinic or apyrimidinic site) lyase|apurinic-apyrimidinic endonuclease 1|apurinic/apyrimidinic (abasic) endonuclease|apurinic/apyrimidinic exonuclease|deoxyribonuclease (apurinic or apyrimidinic)|multifunctional DNA repair enzyme|protein REF-1|redox factor 1|redox factor-1 protein-coding 1350631 APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair (BER). [provided by RefSeq] 1580863 19443450,19165527,16687656,16189514,15772651,15489334,12477932,11866537,11376153,20843780,12650714,20522537 27301 NM_014481,NG_012568,AL020991,AY884244,CH471154,AB021260,AB049211,AF119046,AJ011311,AK301555,AK316186,BC002959,BI837686,CR595088,CR596927,CR605254,CR612334,CR617388,CR622468,HQ205186,HQ205187,HQ205188,HQ205189,HQ205190,HQ205191,HQ205192,HQ205193,HQ205194,HQ205195,HQ205196,HQ205197,HQ205198,HQ205199,HQ205200,HQ205201,HQ205202,HQ205204,HQ205205,HQ205206,HQ205207,HQ205208,HQ205209,HQ205210,HQ205211,HQ205212,HQ205213,HQ205214,HQ205215,HQ205216,HQ205217,HQ205218,HQ205219,HQ205221,HQ205222,HQ205223,HQ205224,HQ205225 NP_055296,CAI43126,AAW56941,EAW93208,EAW93209,EAW93210,BAA78422,BAB13764,AAD43041,CAB45242,BAG63051,BAH14557,AAH02959,Q9UBZ4,ABM84595,ABM86482,ADP90654,ADP90655,ADP90656,ADP90657,ADP90658,ADP90659,ADP90660,ADP90661,ADP90662,ADP90663,ADP90664,ADP90665,ADP90666,ADP90667,ADP90668,ADP90669,ADP90670,ADP90672,ADP90673,ADP90674,ADP90675,ADP90676,ADP90677,ADP90678,ADP90679,ADP90680,ADP90681,ADP90682,ADP90683,ADP90684,ADP90685,ADP90686,ADP90687,ADP90689,ADP90690,ADP90691,ADP90692,ADP90693 Hs.659558 APE2|APEXL2|XTH2 AP endonuclease 2|AP endonuclease XTH2|APEX nuclease 2|APEX nuclease-like 2|DNA-(apurinic or apyrimidinic site) lyase 2|DNA-apurinic or apyrimidinic site lyase 2|apurinic-apyrimidinic endonuclease 2|apurinic/apyrimidinic endonuclease-like 2 protein-coding 1349695 APH1A anterior pharynx defective 1 homolog A (C. elegans) APH1 is a multipass transmembrane protein that interacts with presenilin (see PSEN1; MIM 104311) and nicastrin (APH2; MIM 605254) as a functional component of the gamma-secretase complex. The gamma-secretase complex is required for the intramembrane proteolysis of a number of membrane proteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM 190198).[supplied by OMIM] 2302204 20674680,12787561,12843241,15721744,16630834,16641999,17986144,20145246,20299451,20379614,12297508,15274632,19369254,19368855,19028695,18801744,17059559,16757808,16344560,16303743,15629423,15489334,15322084,15286082,15210705,14702039,14627705,14593096,12975309,12972157,12917438,12740439,12679784,12522139,12477932,12471034,12110170,10810093,14572442,15257293,12857757,12763021,15322109,17207965 2302204 51107 NM_001077628,AL138795,CH471121,CQ783433,AF151835,AF508787,AK027879,AK075295,AK075452,AK125685,AK297680,AK298832,AK298876,AK300640,AK307358,AK314490,AY113698,AY113699,AY358951,BC001230,BC008732,BC009501,BC015568,BC017699,BC020590,BC068606,BI760743,CR590583,CR591178,NM_016022,CR594282,CR594321,CR596144,CR597912,CR601650,CR603099,CR605320,CR607278,CR609243,CR609659,CR609960,CR610823,CR612872,CR613868,CR615087,CR618014,CR626054,CR626391,CR626622,CR626805,DA589586,CR591331 NP_057106,NP_001071096,CAI22811,CAI22812,CAI22813,EAW53565,EAW53566,EAW53567,CAF86638,AAD34072,AAN63816,BAG51389,BAC11529,BAG52142,BAG60040,BAG60962,BAG60993,BAG62329,AAM61955,AAM61956,AAQ89310,AAH01230,AAH08732,AAH09501,AAH15568,AAH17699,AAH20590,Q5TB21,Q5TB22,Q96BI3,ADQ31632 Hs.108408 6530402N02Rik|APH-1|APH-1A|CGI-78 OTTHUMP00000037716|aph-1alpha|gamma-secretase subunit APH-1A|presenilin-stabilization factor protein-coding 1344589 APH1B anterior pharynx defective 1 homolog B (C. elegans) APH1 is a multipass transmembrane protein that interacts with presenilin (see PSEN1; MIM 104311) and nicastrin (APH2; MIM 605254) as a functional component of the gamma-secretase complex. The gamma-secretase complex is required for the intramembrane proteolysis of a number of membrane proteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM 190198).[supplied by OMIM] 2302204 15823552,15629423,15591316,15489336,15489334,15286082,14702039,12975309,12763021,12740439,12477932,12471034,12110170,11230166,11076863,12297508,11256614,18987747,17466415,16757808,16381901,16344560,12787561,12843241,12857757,15721744,16630834,17986144,19774691 2302204 83464 NM_031301,NM_001145646,AC016207,CH471082,AA808355,AB189172,AB197122,AF508794,AI693802,AK057677,AK291204,AK307456,AK307725,AK310843,AL136671,AY358698,BC020905,BI825203,DA397427 NP_112591,NP_001139118,EAW77644,EAW77645,BAD95573,BAE02660,AAN63817,BAF83893,CAB66606,AAQ89061,AAH20905,Q4R1J8,Q564N3,Q8WW43,CAL37602,CAL37756,ABM82327 Hs.511703 APH-1B|DKFZp564D0372|FLJ33115|PRO1328|PSFL|TAAV688 anterior pharynx defective 1B-like|aph-1beta|gamma-secretase subunit APH-1B|presenilin stabilization factor-like|presenilin-stabilization factor-like protein-coding 1320288 API5 apoptosis inhibitor 5 1643340 11075807,9307294,10780674,11555636,19387494,18319255,17112319,17081983,16344560,16083285,15635413,15489334,12703993,12477932,10393420,18029348,19661379,20671611,19821157,19734545 1643340 8539 NM_006595,NM_001142931,AC087276,AY265973,CH471064,AF229253,AF229254,AK293303,AK294724,AK299288,NM_001142930,AK304157,AY311389,BC015898,BC017709,BF115210,BM193468,BT007093,CR593210,CR598402,DA104687,U83857,Y15906,NR_024625 NP_001136402,NP_006586,NP_001136403,AAO89077,EAW68098,EAW68099,AAK00737,AAK00738,BAG56824,BAG57871,BAG61304,BAG65045,AAQ76714,AAH17709,AAP35756,AAB86528,CAA75867,Q9BZZ5,ABM81597,ABM84778 Hs.435771 AAC-11|AAC11 API-5|FIF|antiapoptosis clone 11 protein|apoptosis inhibitor 5|cell migration-inducing gene 8 protein|fibroblast growth factor 2-interacting factor 2|migration-inducing protein MIG8 protein-coding 2302585 API5L1 API5-like 1 10393420 642812 NG_009200,AL732602 API5L1 pseudo 4144507 API5P2 API5 pseudogene 2 728664 AC011998,NG_009199 pseudo 1603043 APIP APAF1 interacting protein APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM] 17207965,20800603,16189514,16344560,15489334,15262985,12477932,10810093,9373149,8125298,19060904 51074 NM_015957,AC107928,CH471064,AF088034,AF132963,AK225249,AK226157,AK292648,AK302225,BC008440,BC009077,BC017594,CR598872,CR599175,CR618871,CR621391,DA729016 ADQ32639,NP_057041,EAW68161,AAD27738,BAF85337,BAG63579,AAH08440,AAH09077,AAH17594,Q96GX9 Hs.447794 APIP2|CGI-29|CGI29|MMRP19|dJ179L10.2 APAF1-interacting protein|MTRu-1-P dehydratase|probable methylthioribulose-1-phosphate dehydratase protein-coding 1602808 APITD1 apoptosis-inducing, TAF9-like domain 1 This gene was identified in the neuroblastoma tumour suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumours, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 19620631,20347429,17962439,16622420,16622419,15328517,12477932,11329013,8889548,19913121,20628086,15740626,17207965 378708 NM_199294,AL139424,AL354956,CH471130,BC029430,BG213105,BG546364,BM905996,BU902753,CA311915,CR593315,CR593499,BE858209,NR_036462 NP_954988,CAI95755,CAI19199,EAW71654,AAH29430,Q8N2Z9,ADQ32275 Hs.412311 CENP-S|CENPS|MGC32686|MHF1 FANCM-interacting histone fold protein 1|Fanconi anemia-associated polypeptide of 16 kDa|OTTHUMP00000065118|OTTHUMP00000222023|apoptosis-inducing TAF9-like domain-containing protein 1|centromere protein S protein-coding 1344091 APLF aprataxin and PNKP like factor C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM] 20098424,17353262,19155274,18474613,18172500,18077224,17507382,17396150,16344560,15815621,15489334,14702039,12477932 200558 NM_173545,AC105054,AC127383,AC130709,CH471053,AK290841,AK308186,BC030711,BC041144,DA641644 NP_775816,AAY24113,AAY24008,AAY14945,EAW99871,EAW99872,BAF83530,AAH41144,Q8IW19 Hs.720369 APFL|C2orf13|FLJ16593|MGC47799|PALF|Xip1 PNK and APTX-like FHA domain-containing protein|PNK and APTX-like FHA protein|XRCC1-interacting protein 1|aprataxin and PNK-like factor|aprataxin- and PNK-like factor|apurinic-apyrimidinic endonuclease APLF protein-coding 1351986 APLN apelin Apelin is a neuropeptide expressed in the supraoptic and paraventricular nuclei that acts on specific receptors located on vasopressinergic neurons (De Mota et al., 2004) [PubMed 15231996].[supplied by OMIM] 632245,632246,1626175,1626176,1626170,1626174,1626186,1626173,1626171,1600932,1626177,2313938,2313942,2313944,1304466,1580863 20662349,18577758,20843995,17128405,17060400,17177135,16723381,16563531,16115460,15772651,15677759,15664671,15489334,15231996,14702039,12975309,12963638,12914775,12798955,12603839,12477932,11090199,10617103,11040134,10525157,9792798,19307984,19123778,19100414,19015606,18845302,18816630,18772060,18617693,18484561,18401529,18272843,17906101,17826642,17823846,17412318,18240029,18505110,19344973,19527631,19567136,19597036,19643928,19766342,19804703,19926159,19940213,20045153,20055692,20099713,20224560,20485192,20220056,20675385,20943064,20581707,20669343,20676956,21158215,20382684,19913121,20504125,20628086 632245,632246,1626175,1626176,1626170,1626174,1626186,1626173,1626171,1600932,1626177,2313938,2313942,2313944,1304466 8862 NM_017413,AF179680,AL022162,CH471107,AB023493,AF086248,AK001855,AK312061,AY358657,BC021104,BM992527,DB481574,NG_016718 EAX11828,BAA84975,NP_059109,AAF25815,CAI95697,EAX11829,BAG34997,AAQ89020,AAH21104,Q6UWT3,Q9ULZ1,ABM83051,ABM86244 Hs.303084 APEL|XNPEP2 AGTRL1 ligand|APJ endogenous ligand|apelin protein-coding 733537 APLNR apelin receptor This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq] 2313945,1580863,1304466 15087458,14702039,14675627,14645236,14622440,12667811,12603839,12477932,11250876,11004481,10737800,8971794,8889548,11040134,9736741,9653051,8294032,9792798,19307984,19123778,19069168,18401529,17826642,17412318,17309882,17128405,16303743,15664671,15489334,20220056,18240029,19527631,19680269,19926159,20055692,20099713,20224560,20353754,18577758,20125035,20485192,20675385 2313945,1304466 187 NR_027991,AP001786,CH471076,U03642,AK074514,AK075252,AK097232,AK315542,AL548962,AL553350,BC032688,BI004477,BM698661,BX439288,NM_005161,CR605634,X89271 NP_005152,EAW73730,AAA18954,BAC11032,BAG52096,BAG53437,BAG37920,AAH32688,CAA61546,P35414,Q8N2R3,ABM81770,ABW03307 Hs.438311 AGTRL1|APJ|APJR|FLJ90771|FLJ96609|HG11|MGC45246 APJ (apelin) receptor|APJ receptor|G protein-coupled receptor APJ|G-protein coupled receptor APJ|G-protein coupled receptor HG11|HG11 orphan receptor|angiotensin II receptor-like 1|angiotensin receptor-like 1|apelin receptor protein-coding 736696 APLP1 amyloid beta (A4) precursor-like protein 1 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 734581,1580863 16193067,9521588,19401174,19126676,18430897,17709753,16531006,16344553,16169070,15489334,15208260,15146195,14970212,14702039,14699153,14597230,14563850,12779321,12477932,12228233,12135352,10578233,10460257,9890987,9729270,9428684,8894693,8432545,7929392,7494461,10081969,11247302,14983046,18272596,20049724 734581 333 AK312292,BC012889,BC013850,BC032983,BQ219233,EF036503,U48437,NM_001024807,NM_005166,AD000864,AK092376,AK126907,AK297339,AK297640 P51693,ABM82267,ABM85449,BAH12638,BAG35219,AAH12889,ABO65089,AAB96331,NP_001019978,NP_005157,AAB50173,BAH12554 Hs.74565 APLP APLP-1|amyloid precursor-like protein 1|amyloid-like protein 1 protein-coding 731852 APLP2 amyloid beta (A4) precursor-like protein 2 1580863,734582 10702673,10490823,10460257,10081969,9556595,7702756,16193067,8220435,8485127,19126676,18641335,18452037,17452623,17405931,16645641,16279945,15584916,15489334,15208260,15146195,14970212,14702039,14699153,14597230,12595709,12499552,12477932,12372026,12228233,11443060,9373149,9109675,8894693,8855266,8125298,8020984,7929392,7539437,19019082,11247302,15778465,11746496,9461550,14983046,17709753,19184004,19808674,20379614,20936779 734582 334 AK308932,BC000373,BC004371,BM992563,BX647107,DC336210,L09209,L19597,L23113,L23114,L27631,S60099,Z22572,NM_001142276,NM_001142277,NM_001142278,NR_024515,NR_024516,AB015751,AP001183,AP003041,CH471065,AF168956,AK056883,AK122834,AK124457,AK128162,AK225283,AK296765,AK300378,AK304736,AK308248,NM_001642 AAH00373,AAH04371,AAA35526,AAA35601,AAA36032,AAA36130,AAC41701,AAC60589,CAA80295,Q06481,Q9UED0,ABW03750,ABW03428,NP_001633,NP_001135748,NP_001135749,NP_001135750,BAA34958,EAW67768,EAW67769,EAW67770,EAW67771,EAW67772,EAW67773,EAW67774,AAD47291,BAG54641,BAG59345,BAG62113,BAG65497 Hs.370247 APLP-2|APPH|APPL2|CDEBP CDEI box-binding protein|amyloid precursor protein homolog HSD-2|amyloid protein homolog|amyloid-like protein 2 protein-coding 735962 APOA1 apolipoprotein A-I This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. [provided by RefSeq] 1578410,1601184,1578442,2313959,2313960,2313961,2313962,1599158,1599161,1600654,1331525,1601185,1601187,1601183,1601186,1601188,1580863,1578416,734583,2325756,2325757,2325758,2325759,2325183 20080084,19965585,20368199,20378541,20385548,20182709,20539018,20349521,20524691,20864672,21115733,20599735,14734645,17142127,17113061,17075859,17071967,17020879,16939214,16931800,16895799,16801176,16781717,16770077,16763159,16710093,16705465,16698792,16671566,16574896,16545386,16542392,16520487,16497665,16495141,16475830,16455106,16452169,16418537,16417409,16407233,16403951,16380821,16368749,16342934,16309370,16285990,16259956,16236546,16197951,16136540,16130094,16128586,16126721,16091367,16060677,16053196,16023124,16009332,16005460,16005451,16005361,15982502,15972827,15962178,15961173,15952766,15925353,15922294,15910632,15900219,15882068,15868628,15849246,15823278,15805548,15782489,15766290,15751988,15723520,15695525,15694942,15657615,15654128,15649902,15585206,15584908,15574409,15540281,15533931,15498766,15489334,15488874,15476409,15474503,15362856,15359539,15334687,15314690,15304365,15297675,15292375,15258834,15242863,15218078,15188057,15177130,15115711,15108119,15066991,15060083,15051721,15036610,15020600,15001567,14988232,14986172,14967052,14746139,14741338,16443932,11297421,15464323,9651324,1587806,10764676,12651854,8049247,4335615,12810715,11162594,14703508,14718538,190223,12458630,14967812,7638166,17655203,14747463,12692552,4345202,16682745,17154273,19592705,19558216,19528336,19408098,19372457,19336475,19336370,19327233,19324996,19324878,19304335,19285487,19258317,17696931,17693625,17683612,17654446,17615385,17600344,17580958,17563120,17530866,17530370,17526499,17517342,17510466,17475009,17474718,17457002,17447731,17378725,17303779,17298957,17272829,17261136,17216278,17204472,17165100,19218819,19217440,19208510,19207029,19191080,19170766,19155782,19124125,19122170,19116237,19105467,19074352,19060911,19060906,19057464,19048603,19035465,19023195,19013290,18988892,18988890,18927546,18848320,18831538,18824596,18823627,18805838,18801202,18776170,18719128,18719109,18695102,18688016,18682504,18678879,18660489,18622028,18621920,18617649,18597093,18594986,18583707,18566298,18565099,18562802,18515783,18506369,18406360,18398670,18388068,18387362,18385134,18378026,18322452,18316036,18280807,18257091,18252847,18218626,18206649,18202432,18193046,18193044,18193043,18179892,18179799,18073484,18063807,17991432,17967773,17964293,17950741,17938634,17919884,17868679,17855807,17853951,17845074,17825930,17761633,17727676,17698072,14729861,14718574,14701824,14666619,14665416,14660648,14609337,14592845,14580163,14567398,14563824,14510906,12974138,12966036,12964943,12962772,12952980,12928428,12875674,12871600,12818417,12801612,12798568,12791946,12782148,12754559,12754494,12742997,12732844,12724319,12722515,12709430,12692252,12690114,12665801,12642784,12608057,12588323,12576517,12573451,12562854,12556235,12544508,12531890,12515395,12511593,12509922,12477932,12473160,3142462,3129297,3120314,3119665,3104518,3047170,3005308,2995392,2687158,2673706,2512329,2506184,2506176,2123470,2111322,2108924,2107878,1898657,1808634,1723385,1644835,1602151,1502149,1076467,210174,204308,164450,17076584,9469594,16169070,11878923,12468059,12462973,12421824,12369845,12270762,12177172,12173940,12167653,12145244,12123106,12116231,12084722,12050338,12048121,12044583,12030900,12011770,12000358,11991719,11963567,11931574,11929608,11916081,11907138,11903341,11879189,11866932,11866037,11860752,11854286,11836686,11805090,11776109,11773045,11756058,11744719,11737222,11718686,11572515,11507973,11472750,11264435,11254757,11223438,11181747,11171287,11063469,11055796,10858436,10828089,10801839,10627502,10487826,10198255,10191289,10085035,9931341,9916936,9593801,9514407,9356442,9325276,9305883,9200714,9003180,8740847,8675681,8664326,8663389,8282791,8240372,7918609,7895732,7592581,6816269,6489332,6439535,6432779,6413973,6412234,6409108,6406984,6405383,6404278,6402711,6401735,6328445,6308458,6304641,6294659,6207999,6198645,3931073,3142880,20800056,19805625,20064972,20211930,20534134,20660328,10559507,14559902,15280376,15994327,16326978,16968945,17478755,17604270,18774540,19022789,19066833,19237735,19239199,19242900,19318685,19339807,19473658,19551315,19578796,19618959,19635584,19636829,19651918,19667106,19701693,19729689,19732897,19740687,19762782,19765778,19766218,19786567,19802338,19863188,19878569,19911804,19913121,19917453,19932694,19948731,19948975,19956635,20008415,20031551,20059975,20083572,20110571,20133843,20164363,20167577,20195290,20197510,20331378,20394740,20413122,20421239,20430392,20442857,20452482,20459474,20480398,6457647,9211901,9829992,20642861,20714348,20801516,20826588,20835684,20842444,20855565,21033077,20399916,20571754,20578904,20602615,20628086,20634891,20673868,20674306,20727869,20382384,20693280,14630798,20215705,20622162 1578410,1601184,1578442,2313959,2313960,2313961,2313962,1599158,1599161,1600654,1331525,1601185,1601187,1601183,1601186,1601188,1578416,734583,2325756,2325757,2325758,2325759,2325183 335 NG_012021,AF148963,AF485255,AP006216,AY422952,AY555191,CH471065,EF444948,J00098,J04066,X01038,X07496,AK292231,BC005380,BC110286,CR594974,CR602459,CR603689,CR604796,CR606088,NM_000039,CR611719,CR614893,CR616175,CR622099,CR623518,CR625742,M11791,M27875,M29068,X00566,X02162,A14829,A15879 NP_000030,AAD34604,AAL92035,AAQ91811,AAS68227,EAW67274,EAW67275,EAW67276,EAW67277,ACA05932,ACA05933,ACA05934,ACA05935,ACA05936,AAB59514,AAA51746,CAA25519,CAA30377,BAF84920,AAH05380,AAI10287,AAA35545,AAA62829,AAA51747,CAA25232,CAA26097,P02647,Q6LEJ8,Q8TDB0,Q9Y355,CAA01198,CAA01253,ABM83999,ABM87329 Hs.93194 MGC117399 OTTHUMP00000069347|apo-AI|apoA-I|apolipoprotein A-I protein-coding 1312295 APOA1BP apolipoprotein A-I binding protein The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq] 20634891,11991719,17533573,17521614,12477932,20855565,20877624 128240 NM_144772,AL365181,CH471121,AJ315849,AK294835,AK298222,BC056917,BC100931,BC100932,BC100933,BC100934,BG723681,BQ430064,CR593423,CR597550,CR606473,CR606563,CR620453 NP_658985,CAI13049,CAI13050,CAI13051,EAW52941,EAW52942,EAW52943,CAC86580,BAG57944,BAG60492,AAH56917,AAI00932,AAI00933,AAI00934,AAI00935,Q5T3I3,Q6PGN4,Q8NCW5 Hs.528320 AIBP|MGC119143|MGC119144|MGC119145|YJEFN1 AI-BP|apoA-I binding protein|apolipoprotein A-I-binding protein|yjeF N-terminal domain-containing protein 1|yjeF_N1 protein-coding 737360 APOA2 apolipoprotein A-II This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq] 1580863,1578416,2313955,2313956,2313960,2313961,2313962,2313957,2313959,2313958,1599158,1599161,1300287,1601191,1601190 20022911,11162594,218942,9651324,14967812,1606170,10764676,17264082,11991719,7918467,8106353,8636092,12458630,11591715,8640403,14988251,11551871,8245722,12692552,4345202,14718574,16682745,19336475,19285487,19216768,19069164,18766253,18676680,18660489,18652418,18636124,18269685,18179799,17923573,17709437,17652309,17446329,16990646,16710414,16407233,16368749,16254078,15922294,15833935,15489334,15388641,15247216,14650352,12959642,12738753,12690114,12642785,12522687,12477932,12269810,12136402,12136239,12116266,12116231,12032642,11971944,11714842,9469594,7518568,6816269,6789904,6438100,6433912,6428397,6407957,6328445,6315718,6090207,6089788,4344225,4338591,3935800,3136074,3104518,3088392,2995928,2989800,2415515,2414299,2107739,1908160,210174,12576517,12562854,19170196,19193611,19423540,19618959,19625176,19635584,19651918,19692168,19778946,19817643,19878569,19901143,19910634,19948975,20031551,20331378,20406964,20430392,20438785,19913121,20602615,20628086,20679960,20855565,20975728 1578416,2313955,2313956,2313960,2313961,2313962,2313957,2313959,2313958,1599158,1599161,1300287,1601191,1601190 336 NM_001643,NG_012043,AL590714,AY100524,CH471121,X02619,X02905,X04898,AB106565,AK312034,BC005282,BT006786,CR605230,M29882,X00955,CR595207 NP_001634,CAH72151,AAM49807,EAW52618,EAW52619,EAW52620,EAW52621,EAW52622,CAA26474,CAA26665,CAA28583,BAD05173,BAG34971,AAH05282,AAP35432,AAA51701,CAA25467,P02652,Q76EI7,ABM83419,ABM86631 Hs.237658 Apo-AII|ApoA-II|apoAII apolipoprotein A-II|apolipoprotein A2 1643243,2314798,2314801,2315058,2315765,2315816,2316879 BW132_H,GLUCO117_H,GLUCO120_H,GLUCO133_H,GLUCO149_H,GLUCO177_H,GLUCO304_H protein-coding 737553 APOA4 apolipoprotein A-IV Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq] 1578442,1578411,1331525,1580863,1578416 16945374,1935934,3080432,11940599,11162594,16159879,15254593,3095477,18029348,12692552,4345202,14718574,19433068,19403283,19336561,19336475,19336370,19263529,19166692,19131662,19074352,19060911,19060906,19057464,18996102,18948973,18789138,18678879,18676680,18664021,18660489,18636124,18513389,18430727,18193044,18193043,17964293,17855807,17825930,17712726,17654446,17457002,17378725,17261136,17206692,17130180,16929032,16788210,16781717,16770585,16763159,16710093,16651467,16602826,16338932,16326171,16321685,16120654,16105043,16030523,15962178,15928313,15910632,15868628,15864114,15823278,15806598,15764642,15721024,15649902,15559160,15489334,15488874,15359534,15311933,15304365,15258202,15252864,15175360,15108119,14751811,12962772,12860258,12777472,12697303,12691171,12676816,12664082,12556235,12495081,12477932,12417525,12220435,12121350,12116231,12082592,11952809,11941585,11841825,11592042,11583715,11472750,11254757,11181750,11108737,10391210,10069372,9988739,8956036,8688083,7728150,6706947,3931073,3755616,3611972,3095836,3036793,2930771,2351649,2331673,2216752,20609189,20864672,1973689,1737067,1677358,1487136,1349197,2065039,17154273,19170196,19592705,19625176,19689828,19692168,19701693,19732897,19878569,19913121,19948975,20031551,20117098,20164363,20430392,2307668,20602615,20628086,20674306,20714348 1578442,1578411,1331525,1578416 337 CR624481,M10373,M13654,M14566,X13629,NG_012044,AP006216,AY422950,AY555191,CH471065,J02758,M14642,AL531739,BC074764,BC113594,BC113596,CR590456,CR594719,CR597467,CR599821,CR606375,NM_000482 AAB59516,AAA51744,AAA51748,CAA31955,P06727,Q13784,ADR82972,ADR83153,NP_000473,AAQ91809,AAS68228,EAW67271,AAA96731,AAA51745,AAH74764,AAI13595,AAI13597 Hs.1247 MGC142154|MGC142156 apo-AIV|apoA-IV|apolipoprotein A-IV|apolipoprotein A4 2289454 BW298_H protein-coding 736192 APOA5 apolipoprotein A-V The protein encoded by this gene is an apolipoprotein and an important determinant of plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. This gene uses alternate polyadenylation sites and is located proximal to the apolipoprotein gene cluster on chromosome 11q23. [provided by RefSeq] 631983,70662,1578411,1578414,1578416,2313317,2313314,2313328,1331525,1578412,2313315,2313318,2313319,2313321,2313322,1601661 20571505,20628086,20634891,20657596,20674306,20679960,20688329,20696075,20708914,20802161,18946207,15117734,12477932,12436249,15178420,15878877,17326667,18635818,16806135,11588264,11577099,15528295,19629056,19534808,19530961,19403283,19344899,19343127,19336475,19336370,19253837,19207029,19187029,19185284,19159622,19150068,19148283,19141870,19121291,19107359,19074352,19060911,19060906,19057464,19056598,19056482,19055447,19034316,19018513,18974842,15108119,15046561,14984471,14959997,14732475,14729863,14613578,12975309,12951359,12937897,12920097,12915450,12899628,12818421,12810715,12752569,12747596,12709436,12697303,12676816,12671030,12637506,12615678,12417525,12417524,12417270,20469899,20714348,20855565,20869952,20883102,21033077,21054477,18801202,18789138,18779834,18678879,18660489,18658049,18607181,18603531,18601598,18601597,18596051,18579034,18577813,18572192,18549811,18543217,18537870,18468520,18441017,18424353,18395529,18302531,18274806,18274205,18263854,18206649,18193158,18193044,18193043,18179892,18159097,18087544,18078817,18056685,17997385,17964293,17957227,17936576,17922432,17922054,17855807,17768309,17766366,17726453,17722232,17717288,17705673,17700364,17693622,17635078,17548323,17548321,17495607,17493548,17485571,17460328,17457003,17431185,17378725,17356049,17222847,17211608,17197160,17183147,17157483,17142127,17087641,17032446,16954607,16943456,16917759,16887900,16861622,16806226,16781717,16777114,16769999,16763159,16710093,16687148,16682041,16670016,16636175,16531747,16474174,16448983,16410456,16401313,16386743,16386723,16375582,16325772,16321685,16311097,16258166,16192625,16143024,16054149,16051671,16046221,16039297,16006256,15996212,15952115,15941721,15924804,15877284,15857156,15841042,15790933,15781255,15684402,15649902,15636639,15604515,15591215,15542401,15489334,15447887,15369751,15342688,15317819,15306190,15300628,15177130,15157276,15151505,15135251,15131258,16344560,16510431,19185864,19362162,19410254,19447388,19567162,19578796,19592705,19656773,19665689,19692219,19701693,19732897,19765959,19825998,19828688,19847674,19878569,19910639,19913121,19915960,19932084,19948975,20031591,20054229,20059973,20137539,20160193,20170397,20303129,20304614,20331378,20392444,20395964,20400780,20413122,20429872,20430392,20442857,20452521,20480398,20490738,20047745,20966404,20838585,20864672 631983,70662,1578411,1578414,1578416,2313317,2313314,2313328,1331525,1578412,2313315,2313318,2313319,2313321,2313322,1601661 116519 AP006216,AY422949,AY555191,CH471065,EF444949,AF202889,AF202890,AK292739,AK315229,AY358749,BC101787,BC101789,NM_052968,AK308047,DA641693,DB184692,NG_015894,NM_001166598 NP_443200,AAQ91808,AAS68229,EAW67269,EAW67270,ACA05937,ACA05938,AAF25661,AAF25662,BAF85428,BAG37658,AAQ89109,AAI01788,AAI01790,Q6Q788,NP_001160070 Hs.283923 APOA-V|APOAV|FLJ97995|MGC126836|MGC126838|RAP3 OTTHUMP00000069351|apo-AV|apolipoprotein A-V|apolipoprotein A5|regeneration-associated protein 3 protein-coding 735787 APOB apolipoprotein B (including Ag(x) antigen) This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq] 1578415,1578417,1578418,1578419,1578425,1601198,1601203,1626106,2313974,2313976,2313977,2312763,2313981,2313973,2313979,2313980,2313972,1599164,1599165,1580998,1331525,1601202,1601197,1601200,1580863,1578416,1642185,2325763,2325764,2325770,2325761,2317550 20506408,20539018,20368199,20538126,19797257,20181985,20407020,20413671,20932654,20609357,20872969,16920700,16895799,16854991,16801176,16792510,16776623,16758614,16704977,16634094,16620782,16614317,16596945,16545386,16544732,16525840,16455106,16419488,16412386,16389549,16386541,16335952,16316917,16203724,16201717,16159606,16156669,16152798,16136540,16030169,16015283,16007035,15918022,15904989,15890894,15867268,15856946,15830122,15823288,15823278,15795421,15790761,15701167,15699916,15653747,15637307,15630635,15630279,15618547,15616123,15614026,15591776,15585207,15561934,15543563,15504742,15489541,15477777,15469418,15453913,15358600,15355439,15321839,15321838,15321837,15258202,15256516,15254032,15242863,15223114,15207528,15186963,15135253,15135251,15135245,15133863,15111985,15102883,15076187,15047470,15028112,14967820,14967814,14763605,14760718,14746139,14732481,14726411,14718574,14706682,14618390,14567398,14550622,13130121,12964943,12942366,12901521,12895336,12872264,12850958,12818419,12778454,12774037,12760590,12760338,12752570,12736910,12713147,12691171,12670940,12640502,12582154,12576514,12561593,12551903,12547700,12544508,12535758,12529498,12505152,12492446,12477932,12417285,12397634,12397072,12373055,12368141,12235182,12235173,12208478,12206678,12177061,12124991,12082592,12070165,15797858,9685400,2563166,7126555,8245722,19114110,17244792,18322245,15308631,6099394,221835,12692552,4345202,8300609,9548923,1917954,4363408,7853698,19642912,19513531,19501493,19494537,19479237,19449275,19409916,19408349,19342510,19336475,19336370,19319977,19318025,19282863,19263529,19257963,19200547,19200542,19191080,19164805,19156195,19155782,19150065,19148283,19131662,19124125,19122170,19105467,19098283,19084451,19083997,19072566,19064256,19060911,19060910,19060906,19056482,19056372,19034549,19020660,19007590,18940289,18927546,18925970,18728123,18725409,18710658,18701171,18696186,18684539,18665040,18660489,18658047,18636124,18632179,18599996,18597093,18590467,18566298,18550891,18513389,18512131,18496130,18492086,18473452,18393233,18388068,18387362,18354102,18296645,18279815,18262040,18258526,18254714,18222178,18193581,18193044,18193043,18187430,18160469,18078817,18067093,18031309,18028451,18027103,17964958,17890784,17884995,17855807,17784784,17698072,17698027,17696941,17690102,17672218,17659091,17647275,17640344,17633563,17601988,17595251,17588943,17566095,17548929,17539906,17530370,17502298,17484618,17462654,17457002,17444660,17393220,17393087,17367707,17350490,17349073,17347910,17337758,17299378,17288985,17277465,17277381,17264219,17233885,17214991,17194460,17160438,17158591,17142622,17137217,17129575,17111197,17109403,17071710,17046772,17043676,17038630,17032131,17029200,16989840,16981218,16978902,16963757,16925469,12031600,12011770,11947895,11940087,11940084,11903341,11898622,11882317,11869298,11857554,11840804,11833852,11781700,11748351,11737238,11727199,11714857,11575217,11568510,11471883,11459425,11428473,11359462,11359065,11358959,11341749,11333259,11208426,11171287,11170229,11074075,10679026,10513896,12044583,12038793,10330424,9915855,9694898,9565615,9490296,9259199,9252351,9012650,8889592,7883971,6373369,3903660,3860836,3860811,3841481,3841204,3773997,3763409,3759943,3680528,3676265,3659919,3652907,3621347,3522585,3513177,3473077,3464946,3461454,3455779,3426612,3346254,3284790,3095664,3087360,3030729,3024665,3022788,3012797,3001697,2994225,2932736,2883086,2567736,2495826,2450346,2445342,2216805,2115173,1979313,17823116,14498830,20080084,20110441,16233946,16548883,17463246,18720163,18774540,18848826,19022789,19170196,19305020,19344897,19450572,19551315,19578130,19592048,19625176,19632678,19646550,19656773,19667110,19680556,19689828,19692168,19713274,19713673,19729411,19729601,19729689,19766218,19772655,19773416,19802338,19841959,19843101,19860767,19888660,19906129,19913121,19915960,19923980,19932694,19934556,19948975,19956635,19965785,20019594,20031551,20032471,20059992,20082485,20099167,20133978,20145306,20150556,20160193,20167577,20167655,20197510,20236128,20353182,20370913,20379614,20383777,20403997,20425806,20452482,20459474,20503456,7592581,20536507,20565774,20570668,20602615,20628086,20634891,20635694,20657596,20673868,20679960,20724655,20339536,20382384,20466372,20691427,20691829,20837003,20855565,20864672,20930716,20972250,21039385,21059979 1578415,1578417,1578418,1578419,1578425,1601198,1601203,1626106,2313974,2313976,2313977,2312763,2313981,2313973,2313979,2313980,2313972,1599164,1599165,1580998,1331525,1601202,1601197,1601200,1578416,1642185,2325763,2325764,2325770,2325761,2317550 338 M19828,NM_000384,NG_011793,AC010872,AC115619,AY324608,CH471053,J04838,M15053,AB208846,AK290844,BC051278,J02610,K03175,M10374,M12413,M12480,M12681,M14081,M14162,M15421,M17367,M17779,M18036,M18471,M19734,M31030,M36676,X03045,X03324,X03325,X03326,X04506,X04714,X04867,X04868,X04869,X04870,HM487065 NP_000375,AAX88848,AAX93246,AAP72970,EAX00801,EAX00802,EAX00803,AAA53373,AAA53374,AAB60718,BAD92083,BAF83533,AAH51278,AAA35549,AAA51759,AAA51750,AAA51742,AAA51751,AAA51753,AAA51752,AAB04636,AAA51758,AAA51741,AAA51755,AAA51754,AAA35541,AAA35544,AAA51756,AAA35548,CAA26850,CAA27043,CAA27044,CAA27045,CAA28191,CAA28420,P04114,P78482,Q13789,Q13828,Q59HB3,Q7Z7Q0,Q9UE51,Q9UE52,Q9UE53,AAB00481,CAA28558,CAA28559,CAA28560,CAA28561,ACX32319,ADN03360 Hs.120759 FLDB|LDLCQ4 apo B-100|apoB-100|apoB-48|apolipoprotein B-100|apolipoprotein B48|apolipoprotein b|mutant Apo B 100 1643262,1643271 BW207_H,BW214_H protein-coding 1607021 APOB48R apolipoprotein B48 receptor Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq] 10852956,15830122,15591219,12477932,20935630 55911 NM_018690,AC138894,AF141333,CH471279,AF141332,AF141334,AK025123,AK075085,BC119786,BC119788 NP_061160,AAF76256,EAW52278,EAW52279,EAW52280,AAF76255,AAF78765,AAI19787,AAI19789,Q0VD83,Q9NS13 Hs.200333 apoB-48R|apolipoprotein B-100 receptor|apolipoprotein B-48 receptor protein-coding 736126 APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. [provided by RefSeq] 1626277,1626278,625559,1578416,1580863 7736571,8078915,17696929,16999936,15979078,15659357,15516966,14559896,12896982,12881431,12683974,12477932,11815617,11727199,11698249,11584023,11577082,11352648,10781591,10669759,9479499,9186903,8999814,8999813,8692961,8208612,7698776,11134005,19911124,19932086,19965785,20331378,20348446,19913121,20628086 1626277,1626278,625559,1578416 339 NM_001644,AB009426,AC006927,CH471116,AI862416,BC096158,BC096159,BC096160,BC096161,BC101404,BC101405,BC101972,BC101973,BC144708,L25877,L26234,U72890,U72891,U78720 NP_001635,BAA23882,EAW88660,EAW88661,AAH96158,AAI01973,AAI01974,AAA86766,AAA64230,AAD09567,AAD00185,AAD10701,P41238,Q4VB33,AAI72305 Hs.560 APOBEC-1|BEDP|CDAR1|HEPR C->U-editing enzyme APOBEC-1|apolipoprotein B mRNA editing enzyme complex-1|apolipoprotein B mRNA-editing enzyme 1 protein-coding 1318670 APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 1580863 19911124,20138841,10403781,18974842,17187054,15489334,14574404,12683974,12477932,11698249,9373149,8999814,8125298,8078915 10930 NM_006789,AL031778,CH471081,AF086496,AF161698,AI096570,AK223461,AK300689,AK308197,AK310006,AK313288,BC047767,BC069688,BC069764,BI438931,CB051273 NP_006780,CAB44740,EAX04009,AAD45360,BAD97181,BAG62372,BAG36096,AAH47767,AAH69688,AAH69764,Q9Y235 Hs.555915 ARCD1|ARP1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2|probable C->U-editing enzyme APOBEC-2 protein-coding 1351728 APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. This gene encodes a protein that lacks the zinc binding activity and may be an expressed pseudogene. [provided by RefSeq] 1580863 19461882,18403710,17977970,17727729,16407327,16344560,15489334,15461802,12859895,12683974,12539042,12477932,11863358,10737800,10591208,10469298,1286667,17447845,19788695,20615867,19911124,20062055,20178977,20972438 200315 NM_145699,AL022318,CH471095,BC126416,BC144146,BI029063,CR456393,DB322320,U03891,AC192820,NM_001193289,XM_003118814,XM_003118815,XM_003118816,XM_003119848,XM_003119849,XM_003119850,XM_003121009,XM_003121010,XM_003121011 NP_663745,CAI17897,EAW60278,AAI26417,AAI44147,CAG30279,AAA03706,P31941,CAK54381,CAK54680,NP_001180218,ADR82854,XP_003118862,XP_003118863,XP_003118864,XP_003119896,XP_003119897,XP_003119898,XP_003121057,XP_003121058,XP_003121059 Hs.348983 ARP3|PHRBN|bK150C2.1 OTTHUMP00000198910|phorbolin 1|phorbolin-1|probable DNA dC->dU-editing enzyme APOBEC-3A protein-coding 1347030 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq] 1580863 18403710,18024895,17977970,17447845,17020885,16648136,16407327,16060832,15489334,15466872,15461802,15269786,12859895,12683974,12477932,10591208,10469298,20684727,11863358,19698078,19911124,20104108 9582 AL022318,CH471095,AK024854,AY743217,BC031803,BC053859,CT841510,U61083,U61084,NM_004900 NP_004891,CAB45270,EAW60279,EAW60280,EAW60281,EAW60282,AAW31743,AAH53859,CAJ86440,AAD00089,AAD00090,Q20WL1,Q9UH17,CAK54382,CAK54462,CAK54681,CAK54761,CAQ09851,CAQ09852 Hs.226307 APOBEC1L|ARCD3|ARP4|DJ742C19.2|FLJ21201|PHRBNL|bK150C2.2 cytidine deaminase|phorbolin 2|phorbolin 3|phorbolin-1-related protein|phorbolin-2/3|probable DNA dC->dU-editing enzyme APOBEC-3B protein-coding 1317202 APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq] 17353931,19581596,19390611,19088851,18702815,18555089,18420796,18419775,18391217,18032489,17977970,17967058,17672864,17625792,17582006,17371941,17078485,16735504,16060832,15956565,15862967,15489334,15466872,15461802,12859895,12683974,12477932,11863358,10591208,10469298,16414984,15809227,19369234,19911124,20096141 27350 NM_014508,AL022318,CH471095,CQ834178,AB208979,AF165520,AK313272,BC011739,BC021080,CR456394 NP_055323,CAI17898,EAW60283,EAW60284,CAH05304,BAD92216,AAF86650,BAG36081,AAH11739,CAG30280,Q59GY0,Q9NRW3,CAK54383,CAK54682 Hs.441124 A3C|APOBEC1L|ARDC2|ARDC4|ARP5|MGC19485|PBI|bK150C2.3 APOBEC1-like|phorbolin I|probable DNA dC->dU-editing enzyme APOBEC-3C protein-coding 1349209 APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq] 1580863 19088851,16920826,16648136,16344560,15516966,15496550,15461802,15269786,12859895,12683974,12477932,11863358,10737800,10591208 140564 NM_152426,AL022318,CH471095,BC017022,BE888971,BF832090,BM917407,BX340829,CR456396,DA287097,DB121958,EU527884 NP_689639,CAI17899,EAW60285,EAW60286,CAG30282,ACB32248,Q6ICH2,Q96AK3,AAI48620,AAI53186,CAK54385,CAK54684 Hs.629775,Hs.658626 APOBEC3DE|APOBEC3E|ARP6 DNA dC->dU-editing enzyme APOBEC-3D|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene|apolipoprotein b mrna editing enzyme, catalytic polypeptide-like 3d|probable DNA dC->dU-editing enzyme APOBEC-3D protein-coding 1344652 APOBEC3E apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene 11863358 140565 AL022318 pseudo 1345786 APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20592083,12683974,12477932,12167863,10591208,8889548,8570611,17038330,16940537,17067930,16641889,15296757,15141007,20702622,17145955,17142455,17020885,16767679,16699599,16648136,16501124,16460778,16344560,15647250,15489334,15461802,15152192,15054139,15031497,14702039,14565218,14557625,14557052,14528301,14528300,14527406,12970355,12859895,12809610,12808466,12808465,11863358,17121840,19487726,19169351,19088851,19036809,18619467,18603011,18367521,17977970,17609216,17522216,19535447,19561087,19587057,20153011,20219927,20335268,20844042,20592068,20624919,20686027 200316 NM_145298,NM_001006666,AL022318,CH471095,DQ146365,AK294810,BC038808,BE888653,BE892372,BG280786,BG744406,BG758984,BM681311,BQ056344,BQ182066,BQ941658,BX367450,CR456395,CX165430,DA221480,U38435 NP_660341,NP_001006667,CAB45274,EAW60288,EAW60289,AAZ38720,BAG57929,AAH38808,CAG30281,Q6ICH3,Q8IUX4,CAK54384,CAK54683,CAQ09853 Hs.659809 ARP8|BK150C2.4.MRNA|KA6|MGC74891 DNA dC->dU-editing enzyme APOBEC-3F|apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F|induced upon T-cell activation protein-coding 1349849 APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq] 1580863 20523896,15353294,15297452,15286366,15269786,15245742,15210704,15177194,15168739,15159405,15156567,15152192,15116720,15080177,15054139,15031497,14747572,14702039,14672928,14614829,14565218,14557625,14557052,14528300,14527406,12970355,12920286,12914693,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12683974,12477932,12167863,10591208,9846577,9811770,16971427,17020885,15479826,15464836,18184715,18165230,18077705,18023836,17928335,17916373,17898068,17892323,17886715,17881443,18288108,18272764,17869248,17855362,17848567,17825339,17670826,17631688,17609216,17522216,17522211,17517765,17374143,17344295,17314171,17272283,17267497,17259974,17251560,17237417,17212712,17166910,17161027,17145955,17142455,17126871,17083721,17079235,17079095,17067930,17065315,17052331,17049578,17036163,17030807,16988524,16940537,16887808,16874860,16731938,16710452,16699599,16678488,16641889,16641260,16622407,16501124,16460778,16426578,16414984,16354571,16344560,16250885,16000409,15943885,15823539,15721369,15674295,15647250,15613310,15611076,15609224,15581898,15578976,15574592,15537645,15489334,15461802,15452227,15383144,15373943,15358144,19057663,19036809,19027180,19004939,18987139,18851679,18849968,18842592,18836454,18809921,18684817,18667511,18652534,18639915,18619467,18603011,18597676,18501607,18499212,18480459,18456846,18420796,18414671,18367521,18366335,18362149,18326044,18308358,11863358,17121840,12859895,14528301,14564014,15098018,15479846,15781449,18029348,19487726,19389408,19371434,19345973,19343218,19324886,19304304,19300495,19297501,19266078,19254362,19216784,19197360,19169351,19153609,19136562,20338830,20128960,18647522,17064466,20610708,20510315,14999100,14978281,14966139,17023652,16631224,16303161,16418394,15215254,16169070,20668529,20592083,20636339,20463074,20463080,17440614,17849022,18843993,19497112,19535442,19535447,19535450,19561087,19585516,19587057,19649317,19776130,19886996,19887642,19910370,19996938,20023216,20038599,20104108,20147392,20152150,20153011,20212048,20219927,20335268,20363737,20844042 60489 NM_021822,AL022318,AL078641,CH471095,DQ147772,AB266487,AF182420,AK022802,AK092614,AK093635,AK310279,AK315650,BC009683,BC024268,BC061914,CR456472,CR611013,CR619121,DA457434 NP_068594,CAI17900,CAI21556,EAW60292,AAZ38722,BAF34652,AAG14956,BAG38016,AAH24268,AAH61914,CAG30358,Q05JX5,Q9HC16,CAK54453,CAK54752 Hs.660143 ARCD|ARP-9|ARP9|CEM-15|CEM15|FLJ12740|MDS019|bK150C2.7|dJ494G10.1 APOBEC-related cytidine deaminase|APOBEC-related protein 9|DNA dC->dU editing enzyme|DNA dC->dU-editing enzyme APOBEC-3G|phorbolin-like protein MDS019 protein-coding 1604731 APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H Members of the APOBEC family of proteins, like APOBEC3H, are mRNA editing enzymes that affect protein diversity by deamination of cytidine to produce uridine (Wedekind et al., 2003 [PubMed 12683974]).[supplied by OMIM] 18945781,18827027,18779051,18420796,18403710,18299330,16571802,15461802,12683974,12477932,20519396,19828612,19939923 164668 AL031846,CH471095,BC069023,BQ052182,CR456481,FJ376611,FJ376612,FJ376613,FJ376614,FJ376615,FJ376616,FJ376617,NM_181773,BQ054330,BU585251,NM_001166002,NM_001166003,NM_001166004 Q6NTF7,NP_861438,CAQ07272,CAQ07273,EAW60294,EAW60295,EAW60296,AAH69023,CAG30367,ACK77772,ACK77773,ACK77774,ACK77775,ACK77776,ACK77777,ACK77778,NP_001159474,NP_001159475,NP_001159476 Hs.440515 ARP10|dJ742C19.2 APOBEC-related protein 10|ARP-10|DNA dC->dU-editing enzyme APOBEC-3H|OTTHUMP00000199086|apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H protein-coding 1606067 APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq] 19911124,16710414,16082223,15489334,14702039,12477932 403314 NM_203454,AL137800,CH471067,AI961390,AK098557,BC021711 NP_982279,CAI19483,EAW91169,BAC05332,AAH21711,Q8WW27 Hs.97335 C1orf169|MGC26594 apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4|putative C->U-editing enzyme APOBEC-4 protein-coding 1345381 APOBER1 apolipoprotein B mRNA editing enzyme regulator 340 735472 APOC1 apolipoprotein C-I The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 1580863,1578426,2313951,2313950,2313953,2313948,1578472,1578471,2325793 17339654,2302419,18992221,11162594,4020294,10978346,15576844,1917954,11256614,19336575,19336475,19252179,19062221,19060906,19014618,18976728,18802019,18667498,18262040,18193044,18193043,18160739,18049452,18037960,17936795,17761674,17667986,17341095,17310220,17254710,17053273,16981907,16935938,16763159,16631424,16608402,16544732,16478678,16459141,16381901,16159884,15900219,15840864,15793777,15777558,15769335,15767578,15489336,15489334,15364690,15339254,15077570,14746139,14705977,14523051,12962909,12860251,12736801,12705839,12678662,12477932,12429068,12220441,12113906,12044170,12032151,11825674,11702052,11076863,10520737,10391210,9373149,9300485,8804993,8432525,8125298,7779782,7471419,6789904,6328444,4369340,3017837,3013172,2985493,2897845,2835369,166984,11991719,21196492,17998437,182536,18984910,19197348,19368908,19417222,19494537,19567438,19761869,19785722,19808960,19812053,19913121,19936222,20145290,20308432,20331378,20339536,20430392,20498921,20571754,20580041,20628086,17463246,17474819,17975299,20442857,20691829,20714348,20864672,20880607,20972250 1578426,2313951,2313950,2313953,2313948,1578472,1578471,2325793 341 AK312036,BC009698,BC055093,BT007142,CR456907,M27359,X00570,M20902,AI310334,AI885116,AK225971,NM_001645,AC011481,AF050154,AY422954,CH471126,FJ525874,M20843,NG_012859 BAG34973,AAH09698,AAH55093,AAP35806,CAG33188,AAA51762,CAA25235,P02654,CAL37605,AAA51763,AAA88018,NP_001636,AAD02506,AAQ91813,EAW57307,EAW57308,ACN81312,ACT64518,ACT64519 Hs.110675 apo-CIB|apoC-IB|apolipoprotein C-I|apolipoprotein C1 1643251 BW139_H protein-coding 1342905 APOC1P1 apolipoprotein C-I pseudogene 1 16712791,2835369,11752456,16344560 342 AC011481,M20903,AV645786,CB162526,DA636997,DA638554,EF553526,NR_028412,NR_028413,NR_028414 Hs.110675 DKFZp781C1677 pseudo 1352001 APOC2 apolipoprotein C-II The protein encoded by this gene is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. [provided by RefSeq] 1601204,1601214,2313970,2313973,2313966,2313953,2313968,1599175,1358408,1358409,1601191,1601207,1601205,1601212,1601206,1601208,1580863,1578471 10727238,8245722,11162594,4020294,15778093,1917954,15878877,4345202,14718574,17336988,16682745,19336475,19336370,19060906,19034041,19014618,18852267,18802019,18660489,18206908,18193044,18005990,17855807,17717288,182536,8490626,8323539,8112221,7923858,7815420,6706938,6593704,6546757,6328478,6328445,3944271,3944267,3680515,3558370,3525527,3474626,3467353,3263393,3192518,3030808,3014272,2477392,2415514,2209608,1971748,1782747,1555583,194244,17429947,17174330,17018885,16763159,16459141,16432277,15489334,15031287,14746139,12783430,12782148,12682050,12590574,12477932,12450397,12220441,12032151,11930616,11752456,11751863,11579204,11310852,10391210,17222387,16968945,19197348,19534808,19878569,19913121,19948975,20031551,20042600,20331378,20430392,20498921,20571754,20628086,20634891,20714348,20864672,20972250 1601204,1601214,2313970,2313973,2313966,2313953,2313968,1599175,1358408,1358409,1601191,1601207,1601205,1601212,1601206,1601208,1578471 344 NG_008837,AC011481,AY422955,CH471126,FJ525875,J02698,M10612,X05151,AF113884,AV694494,BC005348,BC065270,BT006708,M29844,X00568,NM_000483 AAQ91814,EAW57311,EAW57312,EAW57313,ACN81313,AAA98743,AAB59380,CAA28798,AAD28193,AAH05348,AAH65270,AAP35354,AAA51743,CAA25234,P02655,Q6P163,ACE87745,ACE87064,NP_000474 Hs.75615 MGC75082 apo-CII|apoC-II|apolipoprotein C-II|apolipoprotein C2 1643251 BW139_H protein-coding 737569 APOC3 apolipoprotein C-III Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq] 1601225,1578442,1626412,2313970,2313973,2306767,2306754,2306768,2306771,2306765,2306755,2306766,2313968,2313972,1578443,1331525,1601191,1601223,1601226,1601224,1599190,1580863,1578471,1578441,1578447,1578444 18188530,18187430,18179892,18096054,18034366,18020971,17996965,17964293,17957542,17919884,17885207,17855807,17853951,17825930,17726453,17700364,17672999,17654446,17615573,17457002,17416293,17378725,17367769,17342071,17318300,17314277,17283453,17261136,17197160,17142127,17038637,17032446,17020471,17016614,16973241,16935699,16917759,16864937,16861622,16813599,16781717,16769999,16763159,16710093,16705465,11162594,11060345,182536,3973011,15576844,18635818,9254056,4066713,16443932,18767813,4020294,15778093,17438339,1917954,18399797,4345202,17336988,19501493,19479237,19424489,19403283,19336475,19336370,19322776,19263529,16702309,16682041,16602826,16505251,16495512,16430904,16417409,16410456,16343038,16326171,16321685,16276364,16205020,16192625,16136540,16030523,16015281,15983323,15962178,15949705,15924804,15910632,15868628,15864534,15862889,15823278,15809899,15764642,15715433,15657615,15649902,15642486,15598690,15585206,15576429,15549499,15542401,15489334,15488874,15375785,15364160,15304365,15292332,15175273,15161788,15151505,15124908,15117734,15108119,15076187,15039125,15019539,14718574,14650351,14612212,14569462,14563827,14517726,12964943,12962772,12782148,12754559,12732844,12697301,12692252,12691171,12676816,12600077,12588953,12556235,12514935,12477932,12417525,12401896,12235176,12189450,12176399,12118856,12116231,12082592,12082170,12052247,12048138,12048121,11959336,11903304,11893778,11840804,11839757,11837227,11740190,11737222,11714857,11605014,11575217,11572515,11533368,11512679,11500189,11472750,11443500,11427182,11359462,11341749,11284423,11282888,11270684,11193221,11181747,11171287,11152845,11126401,11116069,10870325,8099442,6548954,6439535,6404278,6328445,6308458,19207029,19166692,19131662,19074352,19060911,19060906,19057464,19056482,19034316,19000312,18974386,18823627,18801202,18789138,18753860,18678879,18663085,18660489,18566295,18560672,18556566,18541587,18513389,18509206,18408013,18289550,18274205,18240956,18206649,18193044,18193043,4846755,3949020,3935800,3931677,3931073,3123586,3095836,2989400,2022742,20864672,20071361,20097930,16968945,17154273,19502413,19534808,19578796,19592705,19622837,19656773,19689828,19701693,19732897,19785722,19878569,19910636,19913121,19932084,19948975,20031551,20331378,20335584,20368524,20452482,20517165,8245722,20303494,20727869,20536507,20602615,20628086,20673868,20674306,20716347,20002542,20714348,20855565,21033077 1601225,1578442,1626412,2313970,2313973,2306767,2306754,2306768,2306771,2306765,2306755,2306766,2313968,2313972,1578443,1331525,1601191,1601223,1601226,1601224,1599190,1578471,1578441,1578447,1578444 345 NM_000040,NG_008949,AP006216,AY422951,AY555191,CH471065,CQ924609,EF444950,J00098,M33043,X01392,X03120,BC027977,BC121081,BC134419,CR605747,M28613,M28614,V01513,X00567,X01388 NP_000031,AAQ91810,AAS68230,EAW67272,EAW67273,CAI23899,ACA05940,ACA05941,ACA05942,AAB59515,AAB59372,CAA25648,CAA26895,AAH27977,AAI21082,AAI34420,AAA51760,AAA51761,CAA24757,CAA25233,CAA25644,P02656,ABM82970,ABM86164 Hs.73849 APOCIII|MGC150353 OTTHUMP00000069353|apo-CIII|apoC-III|apolipoprotein C-III|apolipoprotein C3 protein-coding 736043 APOC4 apolipoprotein C-IV Apolipoprotein (apo)C4 gene is a member of the apolipoprotein gene family. It is expressed in the liver and has a predicted protein structure characteristic of the other genes in this family. Apo C4 is a 3.3-kb gene consisting of 3 exons and 2 introns; it is located 0.5 kb 5' to the APOC2 gene. [provided by RefSeq] 1580863 8530039,18809223,8827523,12700345,17154273,19336475,19060906,18802019,18193044,18193043,16763159,16335952,15489334,12477932,12032151,10996355,8910501,19197348,19913121,20331378,20430392,20498921,20571754,20602615,20628086,20714348,20855565,20864672,20972250 346 NM_001646,AC011481,AY422953,CH471126,U32576,BC020723,EF371378,HC250943,HC311132 NP_001637,AAQ91812,EAW57310,AAA91653,AAH20723,ABQ40075,P55056,CBJ05769,CBJ21221 Hs.655423 apo-CIV|apoC-IV|apolipoprotein C-IV|apolipoprotein C4 1643251 BW139_H protein-coding 737460 APOD apolipoprotein D This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq] 1580863,2311203,2311202,2311209,2311178,2311179,2311196,2311182,2311177,2311180 20493910,3453108,7918467,14718574,19519777,19176353,18979643,18977241,18842892,18671953,18458334,18419796,18330697,17885669,17601350,16966838,16437381,16402085,16344560,16335952,15916898,15489334,15316799,15192024,14760718,14596852,14551159,14500696,12873803,12837283,12497622,12477932,12363390,12052480,11744388,11344130,11058760,10391209,8889548,8692868,8549691,7613477,6774335,2891117,2439269,2244881,2083249,16169070,17353931,19330472,19723339,19878569,19944460,20430392,19913121,20628086,20855565 2311203,2311202,2311209,2311178,2311179,2311196,2311182,2311177,2311180 347 NM_001647,AC069213,CH471052,M16648,M16649,M16695,M16696,AK294523,AK312090,BC007402,BQ008672,BT019860,BT019861,BU195270,BU727194,CR456838,CR541773,DA892855,J02611,S80440 NP_001638,EAW78023,EAW78024,AAA51764,BAG57734,BAG35026,AAV38663,AAV38664,CAG33119,CAG46572,AAB59517,AAB35919,P05090,ABM83594,ABM87123,AAH07402 Hs.522555 OTTHUMP00000208787|OTTHUMP00000208788|apo-D|apolipoprotein D 1643508 BW262_H protein-coding 736378 APOE apolipoprotein E Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq] 1601229,1601237,1601240,1578426,1626412,1300048,1578483,1578449,1578479,1331525,1601191,1601227,1601238,1601231,1601235,1601230,1599198,1580863,1578416,1578481,1578485,2317552,2317556,2317548,2317550 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1601229,1601237,1601240,1578426,1626412,1578483,1578449,1578479,1331525,1601191,1601227,1601238,1601231,1601235,1601230,1599198,1578416,1578481,1578485,2317552,2317556,2317548,2317550 348 NM_000041,NG_007084,AB035149,AC011481,AF050154,AF261279,AY077451,CH471126,FJ525876,M10065,X92000,AK314898,BC003557,BU848796,K00396,M12529,X00199,Z70760 NP_000032,BAA96080,AAD02505,AAG27089,AAL82810,EAW57306,ACN81314,AAB59397,CAA63051,BAG37412,AAH03557,AAB59546,AAB59518,CAA25017,CAA94806,P02649,Q13791,Q6LA97,Q6LBZ1,Q8TCZ8,ABM83474,ABM86685 Hs.654439 AD2|LDLCQ5|LPG|MGC1571 OTTHUMP00000197075|OTTHUMP00000197076|OTTHUMP00000197077|apo-E|apolipoprotein E|apolipoprotein E3 1643251 BW139_H protein-coding 1342697 APOEL1 apolipoprotein E-like 1 1505951 349 1344329 APOF apolipoprotein F The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq] 1580863 6816269,8093033,14718574,18369235,17901467,15489334,15172102,12907677,12477932,9880564,204339,19878569,20331378,20602615,17207965,20691829,20855565 319 NM_001638,AC025574,CH471054,AK314892,BC026257,CR936663,L27050 NP_001629,EAW96938,BAG37406,AAH26257,AAA65642,Q13790,ADQ32134 Hs.534302 Apo-F|DKFZp781G18150|LTIP|MGC22520 apolipoprotein F|lipid transfer inhibitor protein protein-coding 1321637 APOH apolipoprotein H (beta-2-glycoprotein I) Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq] 2313984,2313985,2313986,2313988,2313989,2313990,2313992,2313982,2313983,2313991,1578489,1580863 16480936,9269765,7417307,15486070,4052628,17872974,14726399,15534879,7078428,222615,18029348,19275896,19248095,19132787,19069167,19052923,20581778,20204408,19002041,18996102,18777117,18695102,18676959,18521522,18495556,18452581,18383370,18328538,18205270,18093092,18073216,18034767,17726161,17715943,17662972,17626983,17603016,17469158,17200780,17096706,17057945,17053060,16960938,16905548,16879209,16855163,16740002,16724168,16686261,16625500,16603439,16335952,16199891,16159595,15956288,15916797,15821830,15653437,15641049,15522884,15507264,15507263,15489334,15488942,15252864,15094940,15084671,15025925,14768953,14760718,14719180,14718574,14707422,14644075,14601646,12970918,12918732,12887738,12807892,12673579,12648080,12605674,12590955,12571857,12562869,12495081,12495080,12477932,12471146,12441378,12440522,12428105,12371681,12362233,12235181,12139935,12124280,12038453,12031135,11953211,11816715,11686326,11434778,10809787,10562535,10508150,9914524,9727058,9596664,9352386,9225969,9155091,9063752,8989432,8460120,8139027,8099061,6587378,6403535,3361230,2349221,1777418,1748314,1655523,1650181,1602135,1582254,1426288,1339416,16038107,16938165,18029906,19350132,19578796,19676115,19694946,19706343,19706887,19715922,19758193,19805618,19851667,19878946,19965629,20004024,20026018,20029801,20089041,20237496,9058203,20539917,20440842,19913121,20601596,20602615,20628086,20140737 2313984,2313985,2313986,2313988,2313989,2313990,2313992,2313982,2313983,2313991,1578489 350 X57847,X58100,X53595,NM_000042,NG_012045,AC006120,AY322156,CH471099,Y11493,Y17754,AK298416,AK313838,BC020703,BC026283,BG566874,BM005736,CR591542,CR595640,M62839,S80305,HM212425 CAA37664,CAA40977,CAA41113,P02749,ABM82288,ABM85468,NP_000033,AAP72014,EAW89012,EAW89013,CAA72279,CAA76845,BAG60642,BAG36570,AAH20703,AAH26283,AAA51766,AAB21330,ADJ96598 Hs.445358 B2G1|B2GP1|BG APC inhibitor|B2GPI|activated protein C-binding protein|anticardiolipin cofactor|apo-H|beta(2)GPI|beta-2-glycoprotein 1 protein-coding 1348736 APOL1 apolipoprotein L, 1 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20647424,16020735,12621437,17192540,19324878,19239905,18927493,18850207,18632255,18505729,17845074,17360487,16344560,16335952,15949655,15604524,15500911,15489334,14718574,12837283,12477932,11944986,11374903,11290834,10946010,10591208,9325276,20635188,17154273,20483474,19913121,20602615,20628086,20668430,20855565 8542 NM_145343,NM_001136540,NM_003661,NM_001136541,AF323548,CH471095,Z82215,AF019225,AF305224,AF305428,AF323540,AK296099,AK298053,AK300454,AK303919,AK309143,AK313752,BC017331,BC112943,BC113867,BC114475,BC127186,BC141823,BC142720,BC143038,BC143039,BG419709,CR626091,DA375861,DC340792,DC367266,NG_023228 NP_663318,NP_001130012,NP_003652,NP_001130013,AAK11591,EAW60090,EAW60091,EAW60092,EAW60093,EAW60094,CAI22438,CAQ09086,CAQ09087,CAQ09088,CAQ09089,AAB81218,AAK20210,AAL09358,AAG53690,BAG58852,BAG60347,BAG62174,BAG64847,BAG36492,AAI12944,AAI13868,AAI14476,AAI27187,AAI41824,AAI42721,AAI43039,AAI43040,O14791,Q1WWL5,Q29RW7,Q2KHQ6 Hs.114309 APO-L|APOL|APOL-I|FSGS4 OTTHUMP00000197984|OTTHUMP00000197985|OTTHUMP00000197986|OTTHUMP00000197987|OTTHUMP00000198062|apolipoprotein L-I|apolipoprotein L1 2314778 GLUCO97_H protein-coding 1320008 APOL2 apolipoprotein L, 2 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20602615,11374903,11944986,18632255,15949655,15489334,14702039,12477932,11290834,10591208,7566098,15107424 23780 NM_030882,AF324230,AL031426,CH471095,Z82215,Z95114,AB208990,AF305225,AF305429,AF324223,AF324224,AK056938,AK303978,BC004395,CR593100,NM_145637,NG_023229 ABM84357,ABM87743,NP_663612,NP_112092,AAK11598,CAQ10954,EAW60087,EAW60088,EAW60089,CAQ09084,CAQ08516,BAD92227,AAK20211,AAL09359,AAK11592,AAK11593,BAB71315,BAG64897,AAH04395,Q9BQE5 Hs.474740 APOL-II|APOL3 OTTHUMP00000198080|apolipoprotein L-II|apolipoprotein L2 protein-coding 1315120 APOL3 apolipoprotein L, 3 This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 6. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 20602615,20631155,10233894,12761501,16806233,16344560,15461802,12477932,11944986,11930015,11374903,11290834,10591208,20237496,20379614 80833 NM_145642,NM_145641,NM_145640,NR_027833,NR_027834,NR_027835,AF324238,CH471095,Z95114,AF070675,AF305227,AK025349,AY014902,AY014903,AY014904,AY014905,AY014906,AY014907,BC038352,BC042918,BC050596,BF797347,CR456379,DA878288 NP_663617,NP_663616,NP_663615,AAK26527,AAK26528,AAK26529,EAW60080,EAW60081,EAW60082,EAW60083,CAQ08519,AAC83233,AAK20213,AAG50344,AAG50345,AAG50346,AAG50347,AAG50348,AAG50349,AAH42918,AAH50596,CAG30265,O95236,CAK54368,CAK54667,CAQ08518 Hs.474737 APOLIII|CG121 CG12_1|OTTHUMP00000198072|TNF-inducible protein CG12-1|apoL-III|apolipoprotein L-III|apolipoprotein L3 protein-coding 1343358 APOL4 apolipoprotein L, 4 The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [provided by RefSeq] 1580863 11944986,18632255,15949655,15461802,12477932,11374903,11290834,9373149,8125298 80832 NG_023437,NM_145660,NM_030643,AY014913,CH471095,Z95114,AF305226,AK225696,AK290466,AK290777,AK311506,AK312716,AK313637,AY014914,AY014915,BC004150,BC006276,BC010131,BC017313,CR456380,CR607178 NP_663693,NP_085146,AAG50350,AAG50351,EAW60084,EAW60085,EAW60086,CAQ08527,CAQ08528,CAQ08529,CAQ08530,CAQ08531,CAQ08532,CAQ08533,AAK20212,BAF83155,BAF83466,BAG35591,AAG50352,AAG50353,AAH06276,CAG30266,Q6ICI8,Q9BPW4,Q9BRG6,AAI56832,CAK54369,CAK54668,ACE87148,ACE86467 Hs.726733 APOL-IV|APOLIV OTTHUMP00000198065|OTTHUMP00000198067|OTTHUMP00000198068|OTTHUMP00000198069|apolipoprotein L-IV|apolipoprotein L4 2314778 GLUCO97_H protein-coding 1347333 APOL5 apolipoprotein L, 5 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq] 1580863 20602615,11374903,17474147,10591208,20691427 80831 NM_030642,AL049748,AY014878 AAK07723,NP_085145,Q9BWW9,AAI56796 Hs.326561 APOL-V|APOLV apolipoprotein L-V|apolipoprotein L5 protein-coding 1353798 APOL6 apolipoprotein L, 6 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq] 1580863 11374903,19299565,18571626,15671246,15489334,15461802,14702039,12975309,12477932,10591208,9828130,8889548 80830 NM_030641,AL049747,CH471095,FJ177991,Z79996,AJ227900,AK074645,AK095881,AK097266,AL834420,AY014879,AY358210,BC038950,BC047864,BM023524,BM982940,BU585026,CR456381 NP_085144,EAW60069,ACN51253,CAI18758,BAC11109,BAG53156,CAH56356,AAK07724,AAQ88577,AAH38950,AAH47864,CAG30267,Q8NCM1,Q9BWW8,CAK54370,CAK54669 Hs.257352 APOL-VI|APOLVI|DKFZp667M075|FLJ38562|FLJ90164|MGC57495 apolipoprotein L-VI|apolipoprotein L6 protein-coding 1604585 APOLD1 apolipoprotein L domain containing 1 APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM] 16381901,16344560,15489336,15489334,15102925,14702039,12477932,11230166,11076863,9373149,8125298,19913121,20628086 81575 NM_001130415,NM_030817,AC007215,AC008115,CH471094,AK024963,AK225176,AK314392,AL136783,BC042478,BC126433,BC126435,CR601241,CR606352,DA405367,DC413327 NP_001123887,NP_110444,EAW96278,EAW96279,BAG37017,CAB66717,AAH42478,AAI26434,AAI26436,Q96LR9,CAL38261 Hs.23388,Hs.719938 DKFZp434F0318|FLJ25138|FLJ95166|VERGE apolipoprotein L domain-containing protein 1|vascular early response gene protein protein-coding 1351807 APOM apolipoprotein M The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Two transcript variants encoding two different isoforms have been found for this gene, but only one of them has been fully characterized. [provided by RefSeq] 2314236,2314238,2314241,2314248,2314249,1580863 19913121,20602615,20628086,20846402,20660599,17207965,16682745,15793583,18006500,10531326,19200746,19007767,18835879,18652652,18490703,18460466,18381283,18338076,18279674,18054359,17977826,17973931,17674965,17557255,17525477,17112825,17022639,16572495,16335952,15904876,15542348,15489334,15172102,15147633,14656967,14633861,14574404,12666989,12477932,11944906,11418126,8812450,16169070,20080084,17154273,19100249,19539616,19733574,19767535,19836008,19932694,19932739 2314236,2314241,2314249 55937 AF129756,AL662801,AL670886,AL805934,BA000025,BX511262,CH471081,CR354443,CR753842,CR759761,CS185541,AF118393,NM_019101,AF161454,AJ245434,BC020683,BG564719 NP_061974,AAD18084,CAI18319,CAI18321,CAI17788,CAI17790,CAI18511,CAI18513,BAB63389,CAM45814,CAM45815,CAM45816,EAX03461,EAX03462,EAX03463,EAX03464,CAQ06991,CAQ06992,CAQ06993,CAQ06561,CAQ06562,CAQ06563,CAQ10868,CAQ10869,CAQ10870,CAJ42722,ADQ32214,AAD11443,AAF29014,CAB51604,AAH20683,O95445,Q5SRP4 Hs.534468 G3a|HSPC336|MGC22400|NG20 NG20-like protein|OTTHUMP00000029365|OTTHUMP00000029366|alternative name: G3a, NG20|apo-M|apolipoprotein M|protein G3a protein-coding 1603962 APOO apolipoprotein O APOO is a chrondroitin-sulfate chain containing member of the apolipoprotein family (see APOA1; MIM 107680).[supplied by OMIM] 19204726,18029348,16956892,15489334,12975309,12477932,20877300,19913121,20628086 79135 DB466960,EL951748,AA410995,NG_013219,CR608630,NM_024122,AC079376,AC131011,CH471074,AF061264,AK311865,AY359114,BC002333,BC010102,BC016814,BX099786,NR_026545 Q9BUR5,NP_077027,EAW99001,EAW99002,EAW99003,EAW99004,AAG43139,BAG34806,AAQ89472,AAH02333,AAH10102,AAH16814 Hs.495851 FAM121B|MGC4825|MYO25|My025 OTTHUMP00000023072|apolipoprotein O|brain my025|family with sequence similarity 121B protein-coding 1351827 APOOL apolipoprotein O-like 18029348,15772651,15489334,14702039,12975309,12477932,10737800 139322 NM_198450,CH471104,Z83820,AK096909,AK130506,AY358193,BC107096,BI038188,CR749250,NG_021245 NP_940852,EAW98568,CAI42458,AAQ88560,AAI07097,CAH18106,Q68DW4,Q6UXV4 Hs.512181,Hs.706885 CXorf33|FAM121A|MGC129748|UNQ8193 AAIR8193|OTTHUMP00000023621|apolipoprotein O-like|chromosome x open reading frame 33|family with sequence similarity 121A protein-coding 736021 APP amyloid beta (A4) precursor protein This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1300048,1599199 20573181,17115426,17113271,17113167,17112637,17098805,17095738,17093061,17056594,17056255,17054906,17048876,17046756,17028131,17012232,17005855,16965061,16947080,16940437,16935943,16924555,16920151,16909010,16906128,16902091,16893414,16887805,16878983,16877355,16865398,16856153,16849336,16846375,16837572,16816122,16815330,16789686,16788822,16785251,16735229,16728400,16705182,16698938,16698128,16685645,16672766,16651889,16651627,16648485,16634632,16344478,16339026,16337035,16335952,16303768,16301330,16301322,16298992,16282321,16267229,16263715,16258386,16252002,16215229,16210396,16201761,16195918,16354549,16344553,16186172,16182533,16178030,16139931,16135089,16129700,16127459,16125396,16109164,16101387,16098972,16095541,16086583,16079141,16053447,16052209,16046408,16027166,16002400,15987951,15987892,15985437,15983050,15975068,15967987,15964569,15959846,15946122,15936948,15923191,15909112,15896298,15895461,15880353,15855647,15855271,15837590,15824110,15809056,15778502,15776278,15772078,15769509,15485850,15474359,15459202,15452132,15452128,15451372,15450086,15385569,15365148,15347684,15347683,15342738,15316009,15294142,15282285,15274612,15255950,15251450,15251442,15234966,15233804,15208267,15208260,15203119,15201367,15197182,15184603,15182369,15178331,15161650,15158161,15126508,15123740,15087549,15087467,15084524,15073156,15059642,15053925,15044485,15037614,15036614,15033805,15013569,15004329,14993906,14992810,14985339,14983046,14978032,14970211,14871891,14769392,14724276,14722157,14699153,14699107,15764367,15755672,15748844,15728175,15722360,15718037,15705569,15699049,15699037,15689551,15689542,15681641,15677459,15672415,15668448,15653506,15647781,15647266,15632190,15615711,15592359,15591071,15584916,15584903,15576377,15563588,15537891,15530662,15522224,15509549,15499593,15489334,15489232,15488330,3140222,3035574,2949367,2900137,2893379,2893291,2893290,2893289,2881207,2783775,2675837,2569763,2538123,2507928,2506449,2190106,2125487,2119582,2111584,2110105,1969731,1944558,1925564,1908403,1908231,1718421,1707846,1679289,1678058,1671712,1587857,1415269,1363811,1353447,1307241,1303275,1303244,1303239,1302033,10527458,8624131,7699335,1907279,15668546,15668537,19019082,8894693,12196555,12972431,11247302,15834427,15514157,14756819,12849748,9223340,15448688,10801777,11831556,11827488,11823458,11809755,11784781,11775062,11756677,11726805,11724784,11689470,11589915,11580253,11568920,11544248,11528419,11517249,11517218,11500807,11438549,11430884,11423558,11409420,11378243,11376898,11279131,11278849,11274207,11238726,11214319,11146006,11144355,11100124,11085987,11063718,10993067,10973933,10953012,10940222,10940221,10936190,10931940,10922078,10911620,10884510,10867787,10830953,10821838,10816430,10742146,10665499,10631141,10605825,10593990,10567208,10561592,10559559,11877420,10535332,10461923,10460257,10441572,11851430,10438520,10413512,10383380,12535605,12529377,12493731,12485888,12480759,12480183,12477932,12472467,12471457,12464614,12435726,12433268,12427014,12426076,12414694,12393935,12388551,12383342,12230982,12215842,12214090,12212791,12177374,12146796,12142279,12128082,12128081,12128080,12128077,12124613,12119298,12107175,12099698,12099697,12091492,12090937,12080182,12079364,12069633,12057765,12054503,12054502,12048239,12038964,12034808,12032279,12032152,12025818,12023906,12016588,12016213,12011466,11958860,11943163,11932745,11927537,11915326,11915325,11912199,11912198,11912196,11882652,11879646,9168929,9163350,9136074,9108164,9045663,8999878,8973180,8955346,8943232,8930981,8889548,8887653,8886002,8855266,8781550,8764598,8752142,8626687,8596911,8577393,8576160,8499923,8478942,8476439,8473906,8446172,8344894,8290042,8267572,8248178,8239320,8229004,8158260,8154870,8131745,8109908,8102836,8032873,7913895,7793988,7737970,7688497,7686976,7588758,7556457,7543026,7523115,7516706,3810169,3597385,3312495,3159021,10371197,10341243,10329371,10319819,10201399,10097173,10081969,10078972,10075692,10049767,10048303,9890987,9843960,9837937,9830016,9799084,9754958,9693002,9585534,9553108,9444352,9357988,9338779,9328472,9300481,9228033,20398713,20739349,20849818,21085603,20304957,20555142,20558221,20571221,20699477,20888834,20970427,21084623,19559700,19744481,19782075,19931251,20201807,20302643,18346198,19725829,19924451,20061625,20061626,20061629,20061631,20061647,20117237,20303415,20452985,20497909,20580937,20052582,20421695,20472066,20558735,20700539,20731379,20829454,20851128,20032300,20404004,20406822,20547128,20547131,20697050,10531386,19058878,20568118,20826196,21127294,17448150,12586836,10681545,16193067,16286452,10652580,11279603,15910549,17727819,17725929,17701472,17694066,17687027,17686533,17684015,17675890,17659280,17651731,17651693,17636872,17634293,17632276,17632272,17611268,17601350,17595112,17586478,17573534,17573346,17548355,17545160,17537517,17536186,17522316,17514422,17481654,17468104,18851978,18843496,18842294,18840503,18835787,18833287,18819917,18815129,18813964,18806919,18794492,18786140,18765933,18762245,18759497,18755980,18722509,18706476,18702528,18679696,18675254,18667258,18662767,18599641,18599481,18597778,18596605,18585350,18583625,18574238,18573216,18568035,18559276,18555606,18541797,18535375,18521746,18521005,18515161,18513119,18512251,18497889,18497881,18485495,18483477,18483195,18480379,18468999,18467692,18463498,18456655,18442979,18438935,18437002,18434187,18430735,18430556,18426795,18424782,18422760,18413480,18413473,18411275,18408165,18405662,18403114,18403054,18397883,18376127,18374657,18373737,18358666,18353773,18353662,18349519,18322381,18322377,18322375,18322372,18320103,18317569,18313326,18309230,19225519,18029348,2110384,10806211,19657023,19519498,19515914,19505377,19457132,19457079,19450545,19435461,19422822,19416886,19414017,19387667,19380826,19369541,19366692,19363265,19362074,19358576,19346482,19342591,19338344,19320465,19318086,19306298,19302985,19295151,19286555,19282754,19281847,19280202,19272356,19264960,19251705,19242475,19240061,19239106,19228947,19218342,19216516,19204155,19185603,19184666,19170767,19170186,19167357,19166938,19166823,19164507,19154786,19144826,19139910,19126676,19126407,19115126,19101630,19101527,19097908,19096157,19093876,19074441,19074428,19062178,19057576,19056463,19050078,19028695,19015532,19008223,18977241,18974993,18974093,18955727,18955571,18940800,18936252,18922798,18854169,7593229,18304576,18301778,18300294,18291688,18288607,18284028,18283248,18276590,18263584,18248325,18234670,18234110,18224425,18216187,18215070,18201969,18201567,18187157,18184372,18182389,18164313,18163181,18162558,18096514,18089558,18068270,18055545,18053619,18045146,18043715,18040846,18032553,18028874,18026102,18026100,18021806,17997700,17986385,17979527,17959829,17951083,17945434,17940047,17929832,17929129,17914261,17912358,17909280,17905305,17890228,17881287,17873282,17855370,17855343,17785178,17767011,17763155,17761425,17760842,14690498,14687578,14676049,14663182,14659754,14615541,14557245,14550290,14527950,14525989,14523627,14507922,12972252,12960155,12958194,12944403,12925374,12921787,12917434,12900421,12895653,12895507,12893827,12888553,12874400,12867422,12859342,12824062,12815102,12799176,12796495,12782964,12763021,12754201,12730216,12716908,12702875,12697936,12670422,12665801,12659848,12654973,12653567,12645527,12627474,12626500,12611883,16608822,16595682,16555084,16552500,16551656,16541076,16536739,16508101,16505331,16490783,16489755,16485107,16480949,16469300,16467370,16456666,16449801,16436282,16434391,16432277,16432204,16432203,16432149,16423463,16407538,16401644,16374483,16368544,16354928,17446087,17442758,17427190,17416970,17412506,17405936,17405931,17405930,17405928,17393484,17368826,17360908,17360894,17339876,17335780,17332749,17328898,17325276,17319802,17307738,17268504,17264078,17255094,17251431,17234594,17233641,17229472,17215111,17207630,17192425,17168650,17151277,17150042,17141269,17132139,21148344,20186753,20395454,20576610,20600131,20370566,20405344,20413866,20413877,20413896,20413897,20451519,20466736,20477946,20544966,20595388,20599279,20622013,20641005,20709081,20817278,20828568,20188180,20307581,20668181,10531052,11297421,11350084,11988176,12780348,12805363,12878203,16011250,16446437,16554819,17318305,17332754,17709753,17850925,18077059,18187234,18192084,18272596,18304698,18378046,18387811,18400893,18403055,18462837,18486992,18509662,18782350,18806802,19038331,19376818,19381782,19406747,19414486,19415450,19450683,19462468,19478559,19483198,19496804,19501118,19521063,19542222,19567875,19580765,19584443,19589380,19596858,19601593,19601795,19601895,19660551,19664615,19666488,19672057,19672558,19679638,19692707,19696416,19706519,19710022,19716417,19726636,19729516,19744962,19755123,19759000,19759002,19759550,19770225,19773363,19776078,19779148,19781557,19794916,19808677,19809865,19815012,19818105,19823761,19826010,19837693,19845970,19849849,19863188,19883602,19897485,19901339,19901993,19904787,19908146,19915004,19916493,19917141,19918329,19920152,19923278,19923279,19924286,19940172,19955183,19958821,20005921,20008651,20008660,20009122,20010303,20016085,20021415,20026077,20026169,20034483,20036644,20036826,20050679,20062056,20066010,20070125,20074569,20080541,20080969,20085783,20097758,20100601,20106965,20127045,20145244,20145246,20175748,20212036,20212142,20230749,20231448,20237263,20237496,20335170,20338850,20348104,20351282,20369844,20379614,20380468,20473314,9461550,9774383,20155813,20463975,20502642,20544859,20576603,20628086,20660780,18771816,18771817,18790549,18819729,19714567,20550130,20606367,20209079,20615469,20630068,20650958,20656006,20923778,20952385,21039524,19950418,20132489,19372755,19913121,19926863,19943189,20063202,20523046,20675367,19438816,19725915,20016833,20603101,20689579,20693289,20818335,20844121,2834384 1599199 351 CR618842,NM_001136129,NM_001136130,NG_007376,AP001439,AP001440,AP001441,AP001442,AP001443,AY011354,AY919674,CH471079,CS275872,D87675,M24546,M29270,M33112,M34862,M34863,M34864,M34865,M34866,M34867,AK296229,AK297229,AK297412,AK298861,AK311717,AK312326,BC004369,BC065523,BC065529,BE907745,BI559391,BM172428,BM876312,CB854706,CR618347,NM_201414,NM_201413,NM_000484,M34868,M34869,M34870,M34871,M34872,M34873,M34874,M34875,M34876,M34877,M34878,M34879,M37896,S45136,S60317,X13466,AB066441,AF282245,AK294534,AK295373,AK295621,DC336035,M15532,M15533,M16765,M18734,M28373,M35675,S41243,S60721,S61380,S61383,X06981,X06982,X06989,Y00264,A02759,CS365133,CS448142,CS448144,CS448146,CS448164,CS448166,CS448168 NP_001129601,NP_001129602,AAG47389,AAW82435,EAX09957,EAX09958,EAX09959,EAX09960,EAX09961,EAX09962,EAX09963,EAX09964,EAX09965,EAX09966,CAJ84410,BAA22264,AAC13654,AAA51768,AAB59502,BAG58500,BAG58951,BAG59712,BAG59847,BAG60983,BAG35248,AAH04369,AAH65529,NP_958817,NP_958816,NP_000475,AAB59501,AAA51727,AAB23646,AAC60601,CAA31830,BAB71958,AAQ14327,BAG57741,BAH12049,AAA51564,AAA35540,AAA51722,AAA51726,AAA58727,AAA60163,AAB26263,AAB26264,AAB26265,CAA30041,CAA30042,CAA30050,CAA68374,P05067,Q9BYY9,CAA00268,ACE87808,ACT64482,CAL33835,CAL69791,CAL69792,CAL69795,CAL69796,CAL69831,CAL69838 Hs.434980 AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN2 OTTHUMP00000096096|PN-II|alzheimer disease amyloid protein|amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)|amyloid beta (a4) precursor protein|amyloid beta A4 protein|beta-amyloid peptide|cerebral vascular amyloid peptide|peptidase nexin-II|preA4|protease nexin-II protein-coding 1315134 APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. This gene has been found to be highly expressed in breast cancer. Multiple polyadenylation sites have been found for this gene. [provided by RefSeq] 1580863 9843960,11742091,16189514,15489334,12915535,12477932,11331760,11034067,9039502,14729952,19060904,19176879 10513 NM_006380,AC011921,AC037475,CH471179,AF017782,AK292227,AK307666,AL157428,BC018121,D86981 NP_006371,EAW51406,EAW51407,AAC83973,BAF84916,AAH18121,BAA13217,Q92624 Hs.84084 HS.84084|KIAA0228|PAT1 APP-BP2|amyloid beta precursor protein-binding protein 2|amyloid protein-binding protein 2|protein interacting with APP tail 1 protein-coding 1607055 APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq] 10490823,12011067,15016378,17848569,18632660,18581887,18307981,18034774,17581628,17502098,17490420,17287464,17030088,16622416,16189514,15489334,15345747,15302935,15070827,12621049,12477932,12168954,10718198,20484574,19433865,19520843,19686092,20095645,20814572,20412119,20875820 26060 NM_012096,AC093928,CH471055,AB037849,AF169797,AF424738,AK299008,AK310716,BC010911,BC028599 NP_036228,EAW65335,EAW65336,BAA92666,AAF04012,AAL17835,BAG61090,AAH28599,Q9UKG1 Hs.476415 APPL|DIP13alpha AKT2 interactor|DCC-interacting protein 13-alpha|adapter protein containing PH domain, PTB domain and leucine zipper motif 1|adaptor protein containing pH domain, PTB domain and leucine zipper motif 1|dip13-alpha|signaling adaptor protein DIP13alpha protein-coding 1605653 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 15016378,18034774,17030088,16622416,16189514,15489334,14702039,12477932,11431708,19433865,20814572 55198 AC016257,AC078874,CH471054,AK001521,AK290562,AK293783,AK296610,AK297100,AK310377,AY113704,BC028008,BC033731,NM_018171 NP_060641,EAW97762,EAW97763,EAW97764,BAG50931,BAF83251,BAH11594,BAH12397,BAH12496,AAM55530,AAH33731,ABM83033,ABM86227,Q8NEU8 Hs.506603 DIP13B|FLJ10659 DCC-interacting protein 13-beta|DIP13 beta|adapter protein containing PH domain, PTB domain and leucine zipper motif 2|adaptor protein containing PH domain, PTB domain and leucine zipper motif 2|dip13-beta protein-coding 1317133 APRT adenine phosphoribosyltransferase Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599204,1580863,1599201 18029348,15196008,457664,3531209,17353931,16130169,18399692,17126311,15571218,15489334,14674717,12665801,12477932,11243733,10937693,10481956,10479485,10369268,9521589,9298830,8889579,8882882,8455250,7915931,7685481,7660991,3684585,3680503,3554238,3343350,2502918,2227951,2135300,2067530,1985452,1746557,1353080,869896,116697,19399589,20098747 1599204,1599201 353 NM_000485,NM_001030018,NG_008013,AC092384,AY306126,CH471184,M16446,U09817,Y00486,BC106894,BC106895,BC107151,BM423481,BM550173,BU507629,CR749423,HH961760 NP_000476,NP_001025189,AAP45051,EAW66760,EAW66761,AAA51769,AAB84304,CAA68543,AAI07152,CAH18261,P07741,Q12898,CBX51353 Hs.28914 AMP|DKFZp686D13177|MGC125856|MGC125857|MGC129961 AMP diphosphorylase|AMP pyrophosphorylase|adenine phosphoribosyltransferase|transphosphoribosidase protein-coding 1606553 APTX aprataxin This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined. [provided by RefSeq] 20399152,16547001,16964241,17276982,17519253,15044383,14755728,16777843,19103743,18836178,18202221,17572444,17485165,17240329,17049295,16713569,16439205,15852392,15790557,15719174,15699391,15596775,15555565,15489334,15380105,15365154,15276230,15164193,15164053,14702039,14534929,14506070,12629250,12477932,12196655,12119013,11586300,11586299,11170899,7891378,7782601,3239952,20371676,16344560,19953284,19561170,19643912,19861517,19960345 54840 NM_175073,AL162590,AL353717,CH471071,CS185575,AJ565850,AJ565851,AJ565852,AJ565853,AJ565854,AJ565855,AJ575566,AK000164,AK055672,AK131046,AY040777,NM_175069,AY208830,AY208831,AY208832,AY208833,BC104881,BQ957536,BX538161,CA429601,CR592504,CR602856,CR620499,AY208835,AY208836,AY208837,AY208838,AY208839,AY208840,AY208841,AY208842,AY302067,AY302068,AY302069,AY302070,AY302071,AY302072,AY302073,AY302074,BC001628,BC032650,BC068107,AY208829,AY208834,NM_001195254,AA494365,DA664623,DB042208,NM_001195248,NM_001195249,NM_001195250,NM_001195251,NM_001195252,NR_036576,NR_036577,NR_036578,NR_036579,NG_012821 NP_778239,NP_778243,CAI15728,CAI15729,CAI15730,CAI15734,CAI15735,EAW58528,EAW58529,EAW58530,EAW58531,EAW58532,EAW58533,EAW58534,EAW58535,CAJ42756,CAD92454,CAD92455,CAD92456,CAD92457,CAD92458,CAD92459,CAE01427,BAA90985,BAG51552,AAK91768,AAP86319,AAP86320,AAP86321,AAP86322,AAP86323,AAI04882,CAD98041,Q5T782,Q5T783,Q6JV79,Q6JV81,Q6JV82,Q6JV85,Q7Z2E3,AAP86325,AAP86326,AAP86327,AAP86328,AAP86329,AAP86330,AAP86331,AAP86332,AAQ74130,AAQ74131,AAQ74132,AAQ74133,AAQ74134,AAQ74135,AAQ74136,AAQ74137,AAH01628,AAH32650,AAP86324,NP_001182183,NP_001182177,NP_001182178,NP_001182179,NP_001182180,NP_001182181,CAI15549,CAI15550,CAI15551 Hs.20158 AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT|FLJ20157|MGC1072 OTTHUMP00000021189|OTTHUMP00000021190|OTTHUMP00000215292|OTTHUMP00000215296|OTTHUMP00000215302|OTTHUMP00000215305|aprataxin|forkhead-associated domain histidine triad-like protein protein-coding 1351345 APXLP apical protein-like (Xenopus laevis) pseudogene 12815422 10031 NG_002803,AC004617 APXLP pseudo 70369 AQP1 aquaporin 1 (Colton blood group) Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq] 734971,2307072,2312795,2307071,2316076,2316077,2316078 18544259,18538351,18510579,18509662,18392839,18349152,18313673,18282122,18280225,18275976,18247144,18202181,18080132,18067501,18052958,17898873,17894331,17890385,17854859,17632520,17549682,17409744,17408468,17273788,17077939,17012249,16871401,16814974,16698771,16534779,16515633,16481371,16344560,16300893,16189514,15847654,15809704,15783300,15667881,15502805,15489334,15135660,15024704,14753494,14753493,14701836,14592814,14514735,12853948,12781664,12690205,12498798,12477932,12399631,12237771,12137754,12027013,12002613,11922632,11909995,11884383,11780053,11532455,11408278,11171962,11097616,11034202,10873606,10872456,10839360,10559675,9468475,9177353,8703970,8576117,8340403,7693713,7677994,7540589,7532004,7521882,7518771,7517546,7517253,20739606,21063116,20806077,21107133,20149606,20578142,20461409,20795314,16574458,1722319,7521540,18841368,18575775,18563339,7514605,7507481,3166547,3049610,2007592,1373524,17545093,11914159,12051745,12172703,12522663,12766090,12801959,14561230,14675051,15727941,16133142,16565507,16682607,16711029,17636236,17645239,18617525,18665841,19253825,19268465,19273840,19306058,19424603,19447967,19472194,19545896,19584911,19619954,19726340,19772916,19787701,20063900,20101282,20360993,20424473,20431033,7491270,7544358,8584435,9013443,9096382,9321919,12745312,20969805,20409716,19913121,20628086,20628061 734971,2307072,2312795,2307071,2316076,2316077,2316078 358 NM_198098,NG_007475,AACC02000087,AC004691,AC005155,AF480415,AY953319,CH471073,AB451275,AB451402,AK298091,AK298313,AK300995,AK301351,AK304684,AK309608,AK309688,AK309691,AK312656,AU122128,AY312580,AY312581,BC022486,BC141905,BI837828,CR617260,M77829,S73482,U41517,U41518,DA197236,DA712111,NM_001185060,NM_001185061,NM_001185062 NP_932766,EAL24446,AAC16481,AAC23788,AAL87136,AAX24129,EAW93971,EAW93972,BAG70089,BAG70216,BAG60376,BAG60567,BAG62614,BAG62897,BAG65455,BAG35539,AAR16185,AAR16186,AAH22486,AAA58425,AAB31193,AAC50648,AAC50649,P29972,Q6JSD7,Q6JSD8,ABM83292,ABM86501,NP_001171989,NP_001171990,NP_001171991 Hs.76152 AQP-CHIP|CHIP28|CO|MGC26324 AQP-1|Colton blood group|OTTHUMP00000202461|OTTHUMP00000202462|aquaporin 1|aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)|aquaporin-1|aquaporin-CHIP|channel-like integral membrane protein, 28-kDa|urine water channel|water channel protein for red blood cells and kidney proximal tubule protein-coding 1344809 AQP10 aquaporin 10 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq] 1580863,2312795 18678926,17975119,15898950,15489334,12477932,12084581,11573934,17207965,19913121,20628086,17575980,19023099,19204726 2312795 89872 NM_080429,AL162591,AL354980,CH471121,AB066105,AF159174,AK314993,BC069607,BC074896,BC074897,CR614330 ADQ32883,NP_536354,CAH70482,CAH70483,EAW53209,EAW53210,EAW53211,BAB91223,AAL25998,BAG37489,AAH69607,AAH74896,AAH74897,Q96PS8 Hs.259048 AQPA_HUMAN AQP-10|aquaglyceroporin-10|aquaporin-10|small intestine aquaporin protein-coding 736750 AQP11 aquaporin 11 1580863 17207965,15489334,16650285,16303743,16107722,12477932 282679 NM_173039,AP000609,AP002789,CH471076,CS051419,AB028147,AK075346,AK311096,BC040443,BJ994586,CX867790 ADQ32983,NP_766627,EAW75030,EAW75031,CAI72204,BAC45004,BAC11558,AAH40443,Q8NBQ7 Hs.503345 AQPX1 AQP-11|aquaporin-11 protein-coding 1346803 AQP12A aquaporin 12A 1580863 15809071 375318 NM_198998,AC011298,CH471063,AB040748 NP_945349,EAW71211,BAC45006,Q8IXF9,AAI72337 Hs.534650 AQP12|AQPX2 AQP-12|OTTHUMP00000201387|aquaporin 12|aquaporin X2|aquaporin-12A protein-coding 1352752 AQP12B aquaporin 12B 12477932 653437 NM_001102467,AC011298,BC041460,BC139748,BC157895,BC171912 NP_001095937,AAH41460,AAI39749,AAI57896,AAI71912,A6NM10,Q8IUS6 Hs.437167 INSSA3|MGC149473 AQP-12B|aquaporin-12B|insulin synthesis associated 3 protein-coding 70370 AQP2 aquaporin 2 (collecting duct) This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq] 1601243,2314280,2314281,2314283,2314303,2314306,2314325,2314292,2314293,2314326,2314343,2314296,2314310,2314282,2314347,2312654,2314344,2314345,2312795,2314279,2313211,2314285,734596,1580863,1303982,2312656 20724536,20403973,16845277,16825342,16580609,16563128,16483614,16449354,16288724,16221200,16159898,16049696,15956775,15922355,15703994,15489334,15458431,15155571,15100362,15012730,14702039,14662748,14593099,14514735,12819016,12787389,12631357,12566732,12477932,16902321,12208541,12194985,12191971,12051765,12050236,12021537,11929850,11536078,11509828,11456273,11297561,11076974,10710543,10372737,9745427,9649557,9550615,9402087,9373149,9302264,9268644,9048343,8882880,8140421,8125298,7525161,7524315,7522228,7512890,7510718,17965877,7532304,16928804,19458121,19293543,19147915,19138132,18678705,18519086,18515885,18389276,18247144,18066585,18040725,17957381,17763164,17636261,17550212,17192724,16979638,16968783,19585583,19701945,19923410,20379614,20416077,20452482,8584435,9321919,20390303,20673868,21063116 1601243,2314280,2314281,2314283,2314303,2314306,2314325,2314293,2314326,2314343,2314296,2314310,2314282,2314347,2312654,2314344,2314345,2312795,2314279,2313211,2314285,734596,1303982,2312656 359 NM_000486,NG_008913,AC025154,AC067739,AF147093,CH471111,D31846,Z29491,AI792401,AK055824,AK225940,BC042496,CR542024,S73196,S73197 NP_000477,AAD38692,EAW58109,BAA06632,CAA82627,AAH42496,CAG46821,AAB31999,AAB31998,P41181,Q6FGT3 Hs.130730 AQP-CD|MGC34501|WCH-CD ADH water channel|AQP-2|aquaporin 2|aquaporin-2|aquaporin-CD|collecting duct water channel protein|water channel protein for renal collecting duct|water-channel aquaporin 2 protein-coding 68638 AQP3 aquaporin 3 (Gill blood group) Aquaporin 3 is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq] 1580863,2312795,704374,704407 17943189,7543093,19393693,19184071,18678926,18601899,18543247,18435676,18280225,18247144,18036046,17968524,17471492,17056099,16918518,16672223,16638588,16596446,16043462,15703994,15489334,15375592,15164053,14702039,14675200,14514735,12773542,12769265,12477932,12239222,12234316,11918716,11751877,9558461,9525951,8641135,7558005,20596606,17545093,12522663,18197497,18718702,19545896,19619514,20485009,14521551,20546216,19913121,20106632,20428189,20628086,21063116 2312795,704374,704407 360 NG_007476,NM_004925,AL356218,CH471071,D50486,DQ083949,AB001325,AJ493597,AK095363,AK292208,AK303206,AK315760,BC012988,BC013566,BT007199,CR541991,CR542025,CR592288,CR598676,CR599072,CR599108,CR604170,CR607893,CR614710,CR624600 NP_004916,CAI13311,EAW58500,EAW58501,EAW58502,EAW58503,EAW58504,BAA09077,AAY68214,BAA19237,CAD38526,BAF84897,BAG64296,BAG38113,AAH13566,AAP35863,CAG46788,CAG46822,Q92482 Hs.234642 GIL AQP-3|Gill blood group|aquaglyceroporin-3|aquaporin 3|aquaporin 3 (GIL blood group)|aquaporin-3 protein-coding 735519 AQP4 aquaporin 4 This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 730277,1580863,2312795 18392839,18309154,18280225,18095136,18071147,18019416,17984171,17899684,17890008,17549682,17335082,16871401,16831965,16814974,16778375,16194264,16133546,16103109,15489334,15200272,14753493,14627352,12715185,12477932,12137754,12107411,11890849,11742978,11717465,11408278,11245621,9824541,9676432,9373149,8855281,8617713,8601457,8125298,18435417,20339523,21107133,20461409,7559426,7528931,19487655,19445480,19383790,19366470,19266146,19209385,19153045,19140826,19112001,19028829,18854171,18836575,18641458,18516975,18511455,18510734,18474738,18462810,18437047,17645239,19000426,19465451,19752303,19764565,19772916,19806476,19864112,19938104,19965522,20007705,20013023,20028711,20131265,20138100,20227773,20351659,19761816,20109536,20728226,20680636,17207965,20106632,20463974,21063116,20628061 730277,2312795 361 NM_004028,AC018371,CH471088,U63613,AB128929,AB209156,AK026728,AK222684,AK295069,AL119338,AL138136,AV725241,BC022286,BC030745,BC045780,BI596912,BI667387,BI917845,BQ638704,CD105892,CK001094,D63412,N50070,R35726,U34845,NM_001650,U63622,U63623 NP_001641,NP_004019,EAX01228,EAX01229,AAG17964,BAD22823,BAD92393,BAD96404,BAG58116,AAH22286,BAA09715,AAC50284,AAB26957,AAB26958,P55087,Q53H97,Q59GF3,Q6L7A0,Q9H3V7,ADQ32133 Hs.315369 HMIWC2|MGC22454|MIWC AQP-4|WCH4|aquaporin type4|aquaporin-4|mercurial-insensitive water channel protein-coding 70371 AQP5 aquaporin 5 Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq] 1580863,727251,2312795 20806077,18768791,18612408,18583321,18478076,18449356,18305162,18280225,18215141,18042467,17640479,17553491,17043812,16537379,16500622,16341674,16189514,15489334,12801959,12565800,12477932,11773623,11408278,11245621,10476940,9268644,8621489,18853286,18846354,20362698,12522663,19060904,19273840,19340551,19652646,20360993,20106632 727251,2312795 362 NM_001651,AC025154,CH471111,U46569,BC032946,BC034356,BQ083334,CR541989,CR542022,CR601707,CR625526 NP_001642,EAW58110,AAC50474,AAH32946,CAG46786,CAG46819,P55064,ABM82149,ABM85332 Hs.298023 AQP-5|aquaporin-5 protein-coding 737143 AQP6 aquaporin 6, kidney specific The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq] 1580863,2312795 8812490,12477932,12177001,9268644,20461409,12522663,19680475 2312795 363 NM_001652,AC025154,CH471111,U48409,AL137716,BC065275,U48408 NP_001643,EAW58111,AAB41567,CAB70889,AAB41566,Q13520,Q9NSV5,AAI56044,AAI56930 Hs.54505 AQP2L|KID AQP-6|aquaporin 2-like, kidney specific|aquaporin 6|aquaporin-2-like|aquaporin-6|aquaporin-6, kidney specific|hKID|kidney-specific aquaporin protein-coding 736375 AQP7 aquaporin 7 Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function. [provided by RefSeq] 69753,1580863,1626292,1626289,2312795 9405233,18401671,17566090,17562358,17351148,16325777,15252450,15164053,14702039,12477932,11952783,9931374,9824541,9714739,9252401,18718702,19615702,20463097 69753,1626292,1626289,2312795 364 NG_027764,NM_001170,AB052626,AL356218,CH471071,AB006190,AK055744,AK310456,AK315879,BC062701,BC119672,BC119673,DQ786216,AK294028,AK297860,AK297885,AK301949 NP_001161,BAC05693,CAI13302,CAI13303,CAI13306,CAI13307,CAI13308,CAI13309,EAW58505,EAW58506,BAA21745,BAF98770,AAH62701,AAI19673,AAI19674,O14520,Q08E94,Q5T5L3,Q5T5L4,Q5T5L5,Q5T5M1,Q6P5T0,BAH11653,BAH12678,BAH12686,BAH13592 Hs.455323 AQP7L|AQP9|AQPap|MGC149555|MGC149556 AQP-7|aquaglyceroporin-7|aquaporin adipose|aquaporin-7|aquaporin-7-like protein-coding 1603335 AQP7P1 aquaporin 7 pseudogene 1 12477932,11952783 375719 BC070322,AB052627,AB052630,AL845321,AK128231,BC071803,NR_002817 Hs.658215 bA251O17.3 pseudo 1601913 AQP7P2 aquaporin 7 pseudogene 2 12477932,11952783 389756 NG_023409,AL445665 pseudo 1604890 AQP7P3 aquaporin 7 pseudogene 3 12477932,11952783 441432 NR_026558,AC129778,BC052332 A6NL99 Hs.653500 AQPap-3 pseudo 3277469 AQP7P4 aquaporin 7 pseudogene 4 100132938 AL591379,NG_021659 pseudo 737411 AQP8 aquaporin 8 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq] 1580863 9806845,18948439,17461471,15489334,12712100,12477932,11717661,17207965,11329013,11231887,10393433,9373149,9325099,8125298,17545093,12801959,17636236,20144166,20424473 343 NM_001169,AC008741,CH471145,AB013456,AF067797,AK222964,AK222975,BC040630,BG221545 NP_001160,EAW55769,EAW55770,BAA34223,AAF19050,BAD96684,BAD96695,AAH40630,O94778,Q53GF6,ADQ33080 Hs.176658 AQP-8|aquaporin-8 protein-coding 735505 AQP9 aquaporin 9 The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. [provided by RefSeq] 1580863,2312795 20587318,20960106,9733774,9514918,19481256,19100828,18762715,18652774,18401671,17525633,17346701,17081983,16480766,15592307,15489334,15336539,12681500,12477932,11597198,11466204,10564231,17545093,20378617,17636236,18197497,18718702,19615702,19629726,19772916,19802720,19916714,20379614,20424473 2312795 366 HC250945,HC311134,NG_011975,AC025431,AC066616,AF102870,CH471082,AB008775,NM_020980,AF016495,AK300055,AK313214,BC026258,BE042553,CB528930,CR542027,DC410284 CBJ05770,CBJ21222,NP_066190,AAF27983,EAW77532,EAW77533,EAW77534,BAA24864,AAF16677,BAG61864,BAG36029,AAH26258,CAG46824,O43315,Q6FGT0 Hs.104624 AQP-9|HsT17287|SSC1 aquaglyceroporin-9|aquaporin-9|small solute channel 1 protein-coding 1314717 AQR aquarius homolog (mouse) 20588308,16949364,15489334,14702039,12477932,11991638,9628581,9626505,19615732,20379614 9716 NM_014691,AC018868,CH471125,AB011132,AK291615,AK315815,AL703893,BC027452,BC036913,BC070379,BC108262,BC127111,BC127112,BX647820,BX648611,CR608508,EF553519,AK001173 NP_055506,EAW92319,EAW92320,EAW92321,BAA25486,BAF84304,BAF98706,AAH36913,AAH70379,AAI08263,AAI27112,AAI27113,ABQ66265,O60306 Hs.510958 DKFZp686B23123|IBP160|KIAA0560|fSAP164 functional spliceosome-associated protein 164|intron-binding protein aquarius|intron-binding protein of 160 kDa protein-coding 735652 AR androgen receptor The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq] 1578680,1578681,1578682,1578683,1578684,1578685,1578686,1578687,1578688,1578689,1578690,1601245,1643344,1643341,1643343,1643345,2306773,2306774,2293866,2293867,2293865,2306771,2306772,1331525,1601244,1601246,1580863,2326084,2326139 18676362,18673534,18656523,18651839,18645714,18645675,18640093,18637017,18636124,18628304,18624843,18617186,18602367,18601603,18599551,18599544,18593950,18586675,18577874,18566991,18565325,18562955,18560135,18559568,18555222,18535544,18535113,18521741,18516299,18511503,18511414,18503826,18501301,18495332,18491956,18484228,18483883,18483761,18481277,18479901,18477206,18471792,18469090,18462702,18451177,18451148,18451096,18420738,18415690,18413735,18385763,18374401,18372911,18365230,18358509,18349820,18342859,18332867,18324648,18323476,18321498,18303071,18302198,18297304,18284209,18284208,18281521,18281036,18273818,18270433,18270197,18266956,18252782,18222118,18217192,18212060,18212046,18202763,18196538,18192296,18191848,18187183,18181049,18178153,18174258,18172316,18097504,18084622,18084330,18084323,18070607,18037956,18022799,18007036,17997416,17991730,17984247,17979523,17975004,17974989,17972531,17968460,17940184,17937062,17936280,17932503,17932034,18390176,17922225,17919607,17916185,17914092,17906287,17904846,17889867,17885209,17873892,17855696,17785571,17728669,17728259,17728127,17721441,17714709,17712477,17706202,17704139,17698582,17696745,17684052,17671686,17669147,17659846,17656415,17653089,17651405,17635910,17634427,17627815,17613104,17611654,17601880,17587566,17585029,17601350,17579205,17570496,17569297,17568191,17563746,17553795,17541959,17540719,17538927,17534890,17522416,17522055,17507624,17503469,17496156,17494760,17487836,17477366,17476687,17470458,17465263,17453687,17452459,17431729,17426252,17416965,17413000,17376218,17372242,17365134,17363459,17356171,17342749,17336451,17334597,17334587,17334586,17322500,15545219,15542435,15541640,15539430,15536520,15536156,15534116,15533905,15522925,15519887,15514032,15479493,15472231,15472213,15389799,15378650,15377647,15376484,15368471,15361837,15358199,15350307,15341991,15337466,15328534,15310009,15302512,15266301,15264247,15256534,15239671,15229204,15215582,15205473,15201804,15199155,15178691,15171708,15156193,15136785,15131260,15129430,15123687,15120698,15118070,15117901,15109605,15107424,15091318,15062556,15061984,15053245,15046097,15044606,15042597,15031286,15028622,15023052,15013685,15001585,14999487,14985354,14981536,14974917,14974091,14973115,19758318,20127713,20160483,20551262,21041627,21050150,20448036,19463997,19533338,20181722,20439495,19921427,20417685,20628607,18687691,18402773,17926464,17321486,14968432,12163482,19301304,19282387,19279159,19277043,19274665,19261388,19237573,19231085,19223455,19218788,19207614,19201527,19190146,19189305,19172534,19168451,19167832,19167638,19159685,19147544,19137002,19126541,19118031,19116244,19095061,19094228,19075001,19064572,19062046,19062009,19061288,19060910,19059367,19058789,19052375,19022849,19017913,19013180,19011039,18997859,18992263,18977589,18977241,18962445,18958349,18952763,18852122,18849991,18840639,18829485,18805913,18801408,18799683,18794357,18787043,18780293,18776922,18767927,18762554,18726991,18723670,18717241,18714395,18708348,18703514,19058140,18697861,18694860,18694745,18692840,10075738,15572661,11875111,10835690,19632176,19627379,19620824,19617210,19604497,19598235,19574343,19555469,19538365,19493626,19491261,19481544,19458261,19453261,19448851,19429451,19391487,19383805,19366804,19361789,19347812,19340294,19339269,19302508,17262801,17259306,17257635,17256155,17244640,17242169,17241382,17230529,17217995,17187234,17178887,17178871,17170703,17160687,17116317,17108148,17082327,17077481,17075604,17074594,17073759,17073749,17065579,17055455,17054461,17043241,17034507,17015840,17011549,17010601,17003774,16987421,16980632,16969583,16969502,16957138,16950754,16923962,16921507,16920725,16918952,16914734,16868150,16865726,16865224,16860317,16859836,16847812,16835890,16813680,16809273,16793958,16791593,16774685,16759930,16759824,16725394,16720717,16705072,16690616,16647340,16645039,16644868,16641486,16627595,16609370,16601069,16595706,16583221,16569551,16515589,16494870,16479009,16474850,16470553,16467955,16461912,16450583,16449965,16449235,16446741,16437189,16433248,16425262,16425097,16400085,16384856,16382684,16377095,16373395,16373394,16368182,16365681,16365032,16365023,16365013,16358333,16352666,16317584,16299230,16282370,16278385,16273319,16254899,16244490,16210365,16210317,16195823,16187285,16172197,16172040,16166332,16166078,16161052,16161040,16123086,16120611,16117826,16112495,16098017,16079795,16046054,16039774,15994977,15988382,15963062,15956082,15954500,15952987,15950642,15948728,15934454,15919721,15902657,15900601,15894683,15890890,15888966,15887248,15876692,15835798,15833816,15827868,15827323,15824176,15817010,15810021,15809670,15790678,15784617,15774258,15772083,15757859,15754350,15731171,15721279,15711606,15704521,15695110,15665279,15654614,15640154,15634333,15630701,15617028,15609126,15609040,15599941,15598771,15598662,15585562,15579779,15570555,15563469,15558026,15557561,14966297,14966121,14963700,14769635,14755454,14744796,14743468,14742287,14734264,14726805,14713779,14698481,14693242,14691592,14668339,14667996,14667136,14664704,14663470,14662770,14652007,14646391,14645241,14641003,14627807,14612401,14609956,14585317,14573323,14519624,14517714,14517289,14511406,14511217,14511213,14504193,12970746,12958311,12949936,12941817,12941811,12933816,12925954,12923188,12908100,12895004,12890669,12879219,12877254,12860943,12843184,12843171,12824190,12810069,12804609,12802043,12799378,12788064,12779088,12775722,12771131,12767946,12755998,12750453,12727953,12714604,12682292,12668243,12651911,12649062,12648179,12637980,12634316,12632109,12629350,12612053,12606125,12602915,12602902,12593895,12591938,12588987,12586762,12582022,12573820,12569365,12568409,12559985,12542725,12534937,12712467,12534934,12532336,12514133,12499384,12482965,12481545,12477932,12466388,12465595,12441355,12404104,12399527,12394768,12390340,12389206,12385020,12376504,12376473,12372281,12370109,12361945,12230620,12226080,12220434,12218053,12213902,12202660,12200228,12189490,12532157,12177000,12165860,10454563,12161011,12161010,12146732,12145204,12124798,12119296,12115497,12111704,12101115,12089361,12089345,12085360,12083956,12061774,12051960,12050225,12042281,12039962,12036913,12031042,12015328,12011088,11994312,11981028,11971970,11971763,11967956,11956643,11940333,11935317,11931767,11927493,11923466,11923464,11916967,11906285,11903314,11896058,11894978,11894977,11889162,11877418,11861380,11856748,11854421,11847524,11845321,11818512,11818501,11804942,11803263,11795379,11792931,11792840,11788641,11779876,11774215,11751884,11751688,11748221,11747336,11744994,11739747,11735420,11720249,11719514,11719263,11701709,11682623,11600555,11595700,11591424,11591412,11587068,11585838,11571732,11571725,11564035,11550169,11547131,11545293,11543741,11518799,11509567,11474658,11456479,11439351,11437399,11416139,11409695,11404460,11397855,11396978,11396657,11389183,11280774,11278763,8349631,8325950,8325932,8292051,8281140,8281139,8274409,8240973,8224266,8213813,8205256,8187068,8162033,8145761,8126121,8108393,8107809,8103398,8097257,8096390,8051160,8040309,8033918,7993455,7981689,7981687,7962294,7937057,7929841,7910529,7909256,7890635,7723794,7712463,7673412,7671849,7649358,7641413,7633398,7626493,7591265,7581399,7537149,7511268,3377788,3353727,3353726,3216866,3186717,3174628,2917688,7970939,2911578,2594783,2563196,2546571,2380187,2342476,2339702,2332504,2293020,2260966,2082179,2062380,2010552,1999491,1856263,1775137,1720929,1631125,1609793,1569163,1562539,1525041,1487249,1480178,1464650,1458719,1430233,1426313,1424203,1316540,1307250,1303262,1540595,15684378,15525515,11504717,14593076,12612084,11673464,10318905,9636157,15466214,11322786,9813067,11773441,11856738,11707452,12944908,11792709,9817600,15691881,9822653,11266503,12943985,12874288,10607837,15027889,11032808,15661808,15305378,15288768,12864730,14695896,12140757,12621049,11278661,11278309,11266437,11231320,11221880,11172827,11156376,11155740,11140838,11121205,11121022,11117529,11103816,11096094,11085988,11085509,11079451,11074602,11071847,11050077,11016951,10965917,10961928,10953010,10930412,10903152,10894149,10840043,10809237,10779504,10734072,10706109,10690872,10669760,10654935,10629558,10625666,10617653,10611280,10598582,10590024,10571951,10569618,10567563,10543676,10521447,10517667,10508170,10480874,10470409,10458483,10428808,10404311,10400640,10383460,10364196,10363963,10344732,10332029,10323385,10221770,10221692,10092153,10085091,10022458,9920921,9892017,9891052,9856504,9851768,9834454,9816170,9788719,9768671,9762004,9725910,9717843,9710597,9698822,9675141,9671457,9627582,9610419,9607727,9565586,9544375,9543136,9535906,9482849,9438000,9433917,9417052,9368054,9329414,9328206,9302173,9255042,9252933,9238003,9211894,9208847,9196614,9184448,9162033,9160185,9115274,9111344,9106550,9096391,9039340,9016528,9007482,9001799,9000575,8990010,8918984,8872471,8830623,8827083,8824883,8823308,8809738,8809734,8798722,8798655,8798622,8768864,8723113,8683794,8647313,8643607,8628719,8626869,8626669,8568474,8550758,8530589,8450042,8450040,8446106,8413310,19107370,20173765,20184516,20126983,20199557,20305676,20436506,20869592,10969079,10987273,11477070,12068007,12390891,12644298,14664718,14729952,15062576,15350595,15583694,15602573,15604093,16027218,16051670,16344550,16414017,16724108,17183365,17202144,17353003,17392787,17510388,17721809,17727679,17909037,19178528,19201267,19257827,19345326,19373488,19389811,19443608,19458022,19460858,19463689,19497852,19514049,19584056,19622840,19628766,19656574,19668381,19672785,19683543,19684044,19692168,19703457,19739075,19753540,19762545,19767773,19787772,19790235,19790238,19794963,19797017,19802001,19802006,19804943,19815066,19815331,19816598,19818997,19828458,19830810,19833203,19851057,19852793,19884136,19884383,19884906,19885808,19898421,19901962,19937586,19938016,19938041,19946123,19946220,19947564,19951614,19953479,19954068,19956877,19962986,19995608,20007693,20035825,20043082,20048054,20048160,20048343,20053928,20056211,20063560,20065623,20069563,20071336,20083725,20086010,20087306,20127024,20133446,20147518,20150575,20159969,20173016,20186458,20190557,20198568,20200439,20203370,20204290,20231367,20233785,20299092,20333878,20338164,20351714,20353269,20369693,20374306,20378615,20378930,20381444,20388792,20410235,20431938,20432460,20450840,20458976,20478527,20534771,20200161,20493947,20610535,20713353,16469430,18559499,20691435,20823083,21099110,20215828,20420697,19913121,20308360,20479013,20519371,20579136,20588308,20615892,20628086,20628746,20632874,20634197,20634949,20672904,20808127,15640443,16914745,16964284,19786297,20716560,20734064,20846920,20865044,20880698,20922474,20952028,20967566,21073542,21089003,20140226 1578680,1578681,1578682,1578683,1578684,1578685,1578686,1578687,1578688,1578689,1578690,1601245,1643344,1643341,1643343,1643345,2306773,2306774,2293866,2293867,2293865,2306771,2306772,1331525,1601244,1601246,2326084,2326139 367 NM_000044,NM_001011645,NG_009014,AL049564,AL158016,AL356358,AX453758,CH471132,M27430,M35851,M58158,S79366,S79368,U16371,AF162704,AF321914,AF321915,AF321916,AF321917,BC132975,FJ235919,L29496,M20132,M20260,M21748,M23263,M34233,M73069,GU208210 NP_000035,NP_001011645,CAI43080,CAI40853,CAI40496,EAX05380,AAA51886,AAA51772,AAA51778,AAB21256,AAB21257,AAB60346,AAD45921,AAK09423,AAK09424,AAK09425,AAK09426,AAI32976,ACN39562,AAA51770,AAA51729,AAA51774,AAA51771,AAA51775,AAA51780,AAA51735,P10275,Q13771,Q9BZG5,Q9BZG6,Q9BZG7,Q9NUA2,Q9UN21,ACZ81436 Hs.496240 AIS|DHTR|HUMARA|HYSP1|KD|NR3C4|SBMA|SMAX1|TFM androgen receptor|androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)|dihydrotestosterone receptor|nuclear receptor subfamily 3 group C member 4 protein-coding 1348364 ARAF v-raf murine sarcoma 3611 viral oncogene homolog 14688025,14684750,12477932,11952167,11812000,10967104,10848612,9110174,9042965,8621729,8619474,8394352,8157000,8020955,7731720,3529082,2717185,1262038,11969417,15778465,11909642,12620389,17353931,3029685,18662992,17603482,17535970,17081983,16980614,16964243,16344560,16189514,15772651,15763428,15736953,15489334,15324660,20936779,17380122,20145135 369 NM_001654,CH471164,L24038,U01337,Z84466,AB158254,AB208831,AF052136,AK130043,AK297453,AK300975,AK307747,BC002466,BC007514,BT019864,CR605071,DA264472,M13829,X04790,NG_016339 NP_001645,EAW59310,EAW59311,EAW59312,AAA65219,AAB03517,CAI42468,CAI42469,BAE66645,BAD92068,BAG59877,BAG62597,AAH02466,AAH07514,AAV38667,AAB08754,CAA28476,P10398,Q59HC8,Q5H9B2,Q96II5,ABM83582,ABM86822 Hs.446641 A-RAF|ARAF1|PKS2|RAFA1 A-Raf proto-oncogene serine/threonine-protein kinase|Oncogene ARAF1|Ras-binding protein DA-Raf|proto-oncogene A-Raf|proto-oncogene A-Raf-1|proto-oncogene Pks|serine/threonine-protein kinase A-Raf|v-raf murine sarcoma 3611 viral oncogene homolog 1 protein-coding 1606341 ARAF2P v-raf murine sarcoma 3611 viral oncogene homolog 2, pseudogene 12477932,9847074,8020955,2717185,1505215 644000 NG_008381,AC073188,L24037,BC033982 ARAF2|ARAFPS|PKS1 pseudo 2306588 ARAF3P v-raf murine sarcoma 3611 viral oncogene homolog 3, pseudogene 9847074,1505215 285893 NG_003157,AC006455 ARAFPS2 pseudo 1321262 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 11804590,11804589,16169070,18165900,18939958,18764928,18003747,17081983,16344560,15489334,12477932,12168954,9872452,15607035,19666464,20581827,20554524,20889853 116985 BC056401,NM_001135190,NM_015242,AP003065,CH471076,AB018325,AF411983,AJ621557,AJ706973,AK160383,AY049732,AY553630,BC008315,BC021244,NM_001040118,BC140792,BC144562,BQ921498,CD251362,CR612600,DA186424 NP_001035207,NP_001128662,NP_056057,EAW74863,EAW74864,EAW74865,EAW74866,BAA34502,AAL04167,CAF21317,BAD18726,AAL12169,AAT36325,AAH08315,AAH56401,AAI40793,AAI44563,Q6ZMJ9,Q96P48 Hs.503165 CENTD2|KIAA0782 ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1|OTTHUMP00000211459|OTTHUMP00000211461|OTTHUMP00000211462|arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1|centaurin, delta 2|centaurin-delta-2|cnt-d2 protein-coding 1315077 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq] 1580863 9628581,11804589,18615156,17081983,17077126,15815621,12477932,11804590,9847074,20823205 116984 NM_015230,AC098827,AC104078,AC108033,AC109818,AC116623,CH471069,AB011152,AF411982,AF439781,AK126864,AW274408,AY049733,BC105089,BC105091,BC150258 NP_056045,AAY40927,EAW92870,EAW92871,EAW92872,BAA25506,AAL04166,AAL32459,AAL12170,AAI05090,AAI05092,AAI50259,Q2M2Z8,Q8WZ64,Q9H8F6,AAI60097 Hs.479451 CENTD1|FLJ13675|FLJ44916|KIAA0580|PARX Arf and Rho GAP adapter protein 2|arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2|centaurin, delta 1|centaurin-delta-1|cnt-d1 protein-coding 1347923 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq] 1580863 11804589,15569923,17314030,15546919,14702039,12832619,12477932,12015138,19786092 64411 NM_022481,AC022420,CH471062,AJ310567,AK001579,AK024718,AK091385,AK290052,AK295768,BC009968,BC025757,BC027880,BX489939 NP_071926,EAW61904,EAW61905,EAW61906,EAW61907,CAC83946,BAG50942,BAB14973,BAF82741,BAG58593,AAH09968,AAH25757,AAH27880,Q05CA7,Q05CH1,Q8WWN8,Q96G49,Q9H7C1 Hs.726187 CENTD3|DRAG1|FLJ21065 ARF-GAP, RHO-GAP, ankyrin repeat and plekstrin homology domains-containing protein 3|Arf and Rho GAP adapter protein 3|OTTHUMP00000224030|OTTHUMP00000224031|PtdIns(3,4,5)P3-binding protein|arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3|centaurin, delta 3|centaurin-delta-3|cnt-d3|phosphoinositide binding protein protein-coding 730952 ARC activity-regulated cytoskeleton-associated protein 734603 17466953,17120280,16189514,15489334,12477932,11117363,10970730,9039502,15103018 734603 23237 NM_015193,AC139676,AF248637,AP006547,CH471162,AF193421,BC012321,BC075802,BI752734,D87468,HI574238 NP_056008,AAG33705,EAW82320,EAW82321,AAF07185,AAH12321,AAH75802,BAA19667,Q7LC44,ABM84592,ABM86706,CBX47608 Hs.40888 Arg3.1|KIAA0278 ARC/ARG3.1|activity-regulated cytoskeleton-associated protein|activity-regulated gene 3.1 protein homolog protein-coding 1344658 ARCN1 archain 1 This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq] 1580863 12477932,12388752,8940050,8854871,8355790,1898986,10921873,9482852,16956762,7782067,11031247,8533093,8599108,16344560,15489334,19615732,8858162 372 NM_001142281,AP000941,CH471065,AA856562,AK304019,AK312298,AU125652,BC064936,BC080638,BC093636,BC093638,BI560739,BQ018687,BX640860,CR592091,CR619909,NM_001655,CR988766,DB216489,X81197,EF444951 NP_001646,NP_001135753,EAW67397,EAW67398,EAW67399,BAG64934,BAG35225,AAH64936,AAH93636,AAH93638,CAE45922,CAA57071,P48444,Q6MZV5,Q6P1Q5,ACA05943,ACA05944 Hs.33642 COPD archain vesicle transport protein 1|coatomer delta subunit|coatomer protein complex, subunit delta|coatomer protein delta-COP|coatomer subunit delta|delta-COP|delta-coat protein protein-coding 1344946 ARCN2 archain 2 371 1349422 ARD1A ARD1 homolog A, N-acetyltransferase (S. cerevisiae) N-alpha-acetylation is one of the most common protein modifications that occurs during protein synthesis and involves the transfer of an acetyl group from acetyl-coenzyme A to the protein alpha-amino group. ARD1A, together with NATH (NARG1; MIM 608000), is part of a major N-alpha-acetyltransferase complex responsible for alpha-acetylation of proteins and peptides (Sanchez-Puig and Fersht, 2006 [PubMed 16823041]).[supplied by OMIM] 1580863 16507339,16511565,19660095,19716809,19826488,19909012,20154145,20501853,7981673,15496142,11256614,19343046,19287988,18991565,18794801,18593917,17161380,17081983,16964243,16823041,16518407,16381901,16288748,16279846,16189514,15994306,15755738,15749829,15489336,15489334,12888564,12477932,12464182,11393533,11076863,16376303,19913121,20628086,20592467 8260 NM_003491,CH471172,AK294081,AK296593,AK309083,AY183134,AY183135,BC000308,BC019312,BC063377,CR591543,CR602528,CR612890,X77588 NP_003482,EAW72773,EAW72774,EAW72775,EAW72776,BAG57422,BAG59209,AAH00308,AAH19312,AAH63377,CAA54691,P41227,Q6P4J0,CAL37430,CAL38702 Hs.433291 ARD1|ARD1A|DXS707|MGC71248|TE2 ARD1 homolog A, N-acetyltransferase|ARD1 homolog, N-acetyltransferase|N-acetyltransferase ARD1, human homolog of|N-alpha-acetyltransferase 10, NatA catalytic subunit|N-terminal acetyltransferase complex ARD1 subunit homolog A|OTTHUMP00000064808|OTTHUMP00000064809|ard1 homolog, n-acetyltransferase (s. cerevisiae) protein-coding 1625645 ARD1B ARD1 homolog B (S. cerevisiae) 16638120,12477932,20419844,19660095 84779 NM_032693,AC023277,AC108466,CH471057,BC004552,BC063623,BC080651,CR605070 NP_116082,EAX05841,AAH04552,AAH63623,AAH80651,Q9BSU3,AAI60080 Hs.676048 ARD1B|ARD2|MGC10646|hARD2 =N-terminal acetyltransferase complex ARD1 subunit homolog B|ARD1 homolog B|N-alpha-acetyltransferase 11, NatA catalytic subunit|N-terminal acetyltransferase complex ARD1 subunit homolog B|OTTHUMP00000219263|human arrest defective 2 protein-coding 1345760 AREG amphiregulin The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells, and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). This protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells and inhibits the growth of certain aggressive carcinoma cell lines. This encoded protein is associated with a psoriasis-like skin phenotype. [provided by RefSeq] 1578719,1578721,2289950,2292662,2292664,2292660,2292661,2292663,2289980,2292658,2292659,2292665,2292668,1580863,1578718,2317963 20428186,20651357,2466334,12743035,3413110,19587163,19494503,19344731,18955794,18946024,18835871,18811692,18325497,18045238,17962208,17960400,17942395,17548638,17525275,17035230,16888076,16713569,16641105,16470170,16336275,16213893,16207795,16088955,15955087,15767261,15735670,15696083,15696081,15685553,15489334,15474502,15284208,15254267,15186320,14633617,12711607,12568494,12477932,12370739,12356750,11942969,11859273,11719440,11507076,11494130,11469683,11038170,10490105,10424781,10389762,10085134,9410906,7698025,2325643,2234093,2017164,1333777,20726858,18560449,19070973,19337692,19609315,19735466,19825997,19895983,19915156,19935651,20103632,20237496,20719813,20628624,20651071 1578719,1578721,2289950,2292662,2292664,2292660,2292661,2292663,2289980,2292658,2292659,2292665,2292668,1578718,2317963 374 NM_001657,AC021180,AY442340,CH471057,M30698,M30699,M30700,M30701,M30702,M30703,BC009799,BC146953,BC146967,BT019866,CR606995,CR608053,CR617114,M30704 NP_001648,AAR05438,EAX05710,AAA51773,AAH09799,AAI46954,AAI46968,AAV38669,AAA51781,P15514,Q5U026,ABM83816,ABM87136 Hs.270833 AR|AREGB|CRDGF|MGC13647|SDGF OTTHUMP00000219184|amphiregulin|colorectum cell-derived growth factor|schwannoma-derived growth factor protein-coding 2299190 AREGB amphiregulin B 12743035,2466334 727738 XM_001125684,AC149643 XP_001125684,P15514 amphiregulin B protein-coding 1353880 ARF1 ADP-ribosylation factor 1 ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 20457610,1577740,9819391,14654833,14690595,8529647,16956762,11031247,8533093,8599108,10402461,15202998,19141284,18990689,18693248,18689681,18597672,18551169,17981261,17693410,17555535,17451557,17112341,16912072,16710414,16669702,16545942,16381901,16341674,16308272,16169070,15876864,15814706,15793564,15944734,14654841,20861011,20529868,15684379,15680326,15581351,15489336,15489334,15336557,15308674,15107860,14676827,14665636,14636574,12799371,12636914,12519790,12509462,12477932,11926829,11914273,11726511,11707398,11703931,11301005,11297540,11278939,11076863,10921873,10858454,10828067,10801846,10749932,10747863,10747089,10720466,10623590,10589680,10318838,15781476,10212218,10102276,10022920,9756891,9733781,9688545,9653114,9417041,9197239,9110174,9038142,8661066,8619474,8288610,7990966,7990146,7898460,7552752,2474826,2105501,1899243,1680566,11373276,21068255,11252894,11694590,16223492,17347647,19359423,19596022,20164217,20214751,20228810,20089835 375 NM_001658,NM_001024227,NM_001024228,AL136379,CH471098,M84327,M84332,AF052179,AF055002,AF493881,AK000620,AK057838,AK057875,AK130737,AK293553,AK296020,AK297792,NM_001024226,BC009247,BC010415,BC010429,BC011358,BF337061,BG421840,BM353046,BM844480,BQ935470,BQ949763,BT007393,CR589969,CR591924,CR592022,CR592538,CR592765,CR593141,CR593577,CR594931,CR595265,CR596360,CR596382,CR598062,CR598776,CR598895,CR599498,CR600476,CR601958,CR603234,CR603317,CR603607,CR603771,CR603926,CR605225,CR605331,CR605630,CR605726,CR607298,CR608050,CR608837,CR609071,CR609092,CR609483,CR611072,CR611570,CR611972,CR612002,CR612413,CR612528,CR612960,CR613039,CR614172,CR614731,CR614806,CR614966,CR615761,CR615857,CR616732,CR617557,CR618135,CR618770,CR618777,CR618870,CR619973,CR620094,CR621987,CR622091,CR622211,CR622881,CR623360,CR625666,CR626279,M36340,M84326 NP_001019397,NP_001649,NP_001019398,NP_001019399,CAI23120,EAW69831,EAW69832,EAW69833,EAW69834,EAW69835,EAW69836,AAA35511,AAC28623,AAC09356,AAM12595,BAG57030,BAG58790,AAH09247,AAH10429,AAH11358,AAP36057,AAA35552,AAA35512,P84077,BAG60132,CAL38139,CAL38339,CAL38472,CAL38588 Hs.286221 ADP-ribosylation factor 1 protein-coding 1606063 ARF1P1 ADP-ribosylation factor 1 pseudogene 1 442334 NG_005537,AL157375,CH236949 Q9H516 ARF1 pseudo 1345639 ARF2 ADP-ribosylation factor 2 376 1354397 ARF3 ADP-ribosylation factor 3 ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq] 8947846,1744102,16713569,16396496,15489334,12477932,12135740,12090300,10828067,10749927,10623590,10506747,10413101,9038142,8661066,8491770,8473323,8355790,2474826,2105501,1577740,1447192,12221117,11124697,20357002,19913121,20628086 377 AC073610,CH471111,M74492,M74493,AF493882,AK291633,BC007647,BC007762,BC017565,BC028402,BM966960,BT006670,CR607986,M74491,NM_001659,AK303726,AK316528 NP_001650,EAW58025,EAW58026,EAW58027,AAA58359,AAM12596,BAF84322,AAH07647,AAH07762,AAH17565,AAH28402,AAP35316,AAB59425,P61204,ACE87829,ACT64578,BAG64702,BAH14899 Hs.119177 ADP-ribosylation factor 3|small GTP binding protein protein-coding 1352328 ARF4 ADP-ribosylation factor 4 This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq] 1580863 2107548,19041174,16344560,15489334,15049518,12477932,12446727,11481332,10828067,10593962,10524252,10099884,9180902,8491770,8355790,7956370,2105501,1899243,1447192,19615732 378 NM_001660,AC092418,AC114480,AF104238,CH471055,AF493883,AK313008,BC003364,BC008753,BC016325,BC022866,CR591127,CR591617,CR592933,CR595935,CR596585,CR597516,CR607207,CR607867,CR611196,CR611234,CR615713,CR618819,CR622582,CR625816,CR625897,DA259855,M36341,U91920,U91921 NP_001651,AAD54674,EAW65344,AAM12597,BAG35844,AAH03364,AAH08753,AAH16325,AAH22866,AAA53081,P18085,ABM85008,ABW03653 Hs.652183 ARF2 ADP-ribosylation factor 2|ADP-ribosylation factor 4|OTTHUMP00000213142|OTTHUMP00000213211 protein-coding 1348063 ARF4P ADP-ribosylation factor 4 pseudogene 2107548 380 NG_001075,AC000387,AL591386,M31889 ARF4P pseudo 1351076 ARF4P2 ADP-ribosylation factor 4 pseudogene 2 170485 NG_001031,AL035669 dJ885L7.7 pseudo 1602801 ARF4P3 ADP-ribosylation factor 4 pseudogene 3 390423 NG_008359,AL356732,CH471085 EAX09044 pseudo 2798791 ARF4P4 ADP-ribosylation factor 4 pseudogene 4 100129023 AL590807,NG_016164 pseudo 2792834 ARF4P5 ADP-ribosylation factor 4 pseudogene 5 100316867 AC098654,NG_016179 pseudo 732462 ARF5 ADP-ribosylation factor 5 ADP-ribosylation factor 5 (ARF5) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. The ARF5 gene spans approximately 3.2kb of genomic DNA and contains six exons and five introns. [provided by RefSeq] 1993656,15489334,12690205,12477932,11926829,11535061,10828067,10749932,10593962,10589680,10022920,9169151,9038142,8491770,8355790,2105501,1447192,11478794,17030804,15146197,17567994 381 NM_001662,AC000357,CH236947,CH471070,U73002,AF493884,AK297026,AK307297,AK308548,AK312107,BC003043,BC033104,BT007087,CR592093,CR592940,CR598890,CR610040,CR614865,CR618126,CR618415,CR619021,CR619680,CR619769,CR624513,CR624558,CR625466,CR625498,M57567,CN259625 NP_001653,EAL24320,EAW83630,EAW83631,AAC51299,AAM12598,BAG59555,BAG35043,AAH03043,AAH33104,AAP35750,AAA90927,P84085 Hs.653202 ADP-ribosylation factor 5|OTTHUMP00000196795 protein-coding 734181 ARF6 ADP-ribosylation factor 6 This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq] 15489334,15231847,15210957,15087504,14675422,14662749,14659046,14625293,14607973,12902467,12860984,12847086,12799371,12526811,12477932,12379803,12032069,12016212,11926829,11867621,11535061,11533043,11278939,11266366,11042152,10749932,10589680,10343114,10022920,9653160,9461590,9417041,8491770,8355790,7990966,7898460,7855600,7589240,2105501,15465916,14617802,15638726,10913182,1993656,9312003,10036235,8702973,19327867,19276089,19264606,19211056,19155310,19033387,18814847,18597672,18326492,18094045,18084281,18000860,17719203,17640372,17628206,17623778,17461797,17157409,17122362,17077126,16737952,16669702,16545942,16527809,16484220,16461286,16344560,16341674,16213822,16099990,15897187,15817676,15802264,15590645,11478794,12509462,17353931,10480924,20462959,20029029,20601426,20709080,20727515,15509780,16148947,16415858,17030804,17643375,18511905,19359423,19365558,19642173,19644450,19666113,19738201,19855388,19948740,20018626,20089652,20385769,20510928,20525696 382 CR541964,CR619019,DA217686,M57763,AL627171,AY296206,CH471078,AF047432,AF493885,AK313790,AL117621,AL121163,BC002952,BC008918,BC030291,BM838197,BT019868,CR541939,NM_001663 CAG46762,AAA90928,P62330,Q5U025,Q6FGZ2,Q6FH17,NP_001654,AAP50257,EAW65740,AAC39877,AAM12599,BAG36527,AAH08918,AAV38671,CAG46737 Hs.525330,Hs.719973 DKFZp564M0264 ADP-ribosylation factor 6 protein-coding 1352175 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 The protein encoded by this gene is a GTPase-activating protein (GAP) which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1 (ARF1). The encoded protein promotes hydrolysis of ARF1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11210549,10704287,9733781,9476900,9405360,9373149,8125298,7969419,16169070,17207965,16956762,11031247,8533093,19299515,19055691,19015319,18541532,16964243,16571680,16316994,15790807,15489334,15302935,15246431,14702039,12477932,12379802,12181329,11780052,11703931 55738 NM_175609,NM_018209,AL121827,CH471077,AB015340,AK001629,AK027268,AK027441,AK095048,AK123367,AK223427,AK296351,AK303454,AK308161,AL137744,AY927573,BC000786,BC006085,BC011876,BC028233,BC127893 ADQ31806,NP_783202,NP_060679,CAC36116,EAW75290,EAW75291,EAW75292,EAW75293,EAW75294,EAW75295,EAW75296,BAA88117,BAA91796,BAB55009,BAB55113,BAD97147,BAH12326,BAH13964,CAB70901,AAH00786,AAH06085,AAH11876,AAH28233,Q53F62,Q8N6T3,CAX12644,CAX12645 Hs.25584 ARF1GAP|HRIHFB2281|MGC39924 ADP-ribosylation factor 1 GTPase activating protein|ADP-ribosylation factor 1 GTPase-activating protein|ADP-ribosylation factor GTPase-activating protein 1|ARF GAP 1|ARF1 GAP|ARF1-directed GTPase-activating protein|GAP protein protein-coding 1314646 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 1580863 19299515,19015319,17760859,16903783,15489334,14702039,14690497,12880961,12477932,11278321,18029348 84364 AC090589,CH471064,AB073358,AK027482,AK098324,AK129511,AK300347,AK301785,AK304541,AK315992,AL834337,NM_032389,BC030148,BC036823,CR592151,CR598905,CR614461,CR624720 NP_115765,EAW67963,EAW67964,EAW67965,EAW67966,EAW67967,EAW67968,BAE45716,BAB55144,BAG53612,BAH13265,BAG63241,BAG65339,BAH14363,CAD39004,AAH30148,Q8N6H7,ACE87609,ACE86922 Hs.436204 FLJ14576|FLJ26000|IRZ|Nbla10535|ZNF289|Zfp289 ADP-ribosylation factor GTPase-activating protein 2|ARF GAP 2|GTPase-activating protein ZNF289|putative protein product of Nbla10535|zinc finger protein 289, ID1 regulated protein-coding 1344539 ARFGAP3 ADP-ribosylation factor GTPase activating protein 3 The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq] 1580863 11172815,18029348,19299515,19015319,17760859,17081983,15761153,15489334,15461802,14702039,12529303,12477932,10704287,10591208,8076819,20379614 26286 NM_001142293,NM_014570,AL049757,AL049758,CH471138,AF111847,AK002083,AK022768,AK297635,AK300531,AK307967,AK315720,AL137598,AL159143,BC005122,BC041383,BI547713,BQ019944,CA431867,CR456382,CR601151,DB458974,AK127525 NP_001135765,NP_055385,CAI21510,EAW73275,EAW73276,AAF40310,BAA92076,BAB14236,BAH12636,BAH13298,CAB70834,CAB76901,AAH05122,CAG30268,Q9NP61,CAK54371,CAK54670,ABM83933,ABM87252,CAI20950,CAQ08844,CAQ08845 Hs.685225 ARFGAP1|FLJ45618 ADP-ribosylation factor GTPase activating protein 1|ADP-ribosylation factor GTPase-activating protein 3|ARF GAP 3 protein-coding 1348298 ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for the guanine-nucleotide exchange activity and also the brefeldin A inhibition. [provided by RefSeq] 1580863 15644318,10212200,19020088,18417613,18292223,18203920,18003980,17360629,17227842,17081983,17079330,16467138,14973189,14702039,12606707,11013081,10393931,8917509,8889548,10716990,12571360,18832381,19651892,20379614,16417406,20818722 10565 NM_006421,AC021321,AC087359,CH471068,AB209324,AF084520,AF111162,AI523655,AI797683,AK001788,AK022557,AK025637,AK127799,AL117446,BE048435,CA314908,AK123660 NP_006412,EAW86935,EAW86936,BAD92561,AAD38427,AAD43651,BAA91912,BAG51091,CAB55931,Q59FY5,Q9Y6D6,AAI72243 Hs.656902 ARFGEP1|BIG1|D730028O18Rik|DKFZP434L057|P200 brefeldin A-inhibited GEP 1|brefeldin A-inhibited guanine nucleotide-exchange protein 1|p200 ARF guanine nucleotide exchange factor|p200 ARF-GEP1 protein-coding 736641 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq] 1300288,1580863 10212200,12571360,18625701,18417613,18003980,17360629,17276987,17081983,16320251,15705715,15302935,15231748,14702039,14647276,12477932,12051703,11780052,11777925,11665623,11013081,10716990,18832381,12606707,15198677,18203920,19384555,20360857 1300288 10564 NM_006420,NG_011490,AL049537,AL121903,CH471077,AB209397,AF084521,AK022623,AK074303,AK302526,BC050449,BC144625,BC144626 NP_006411,CAI19320,CAI19614,EAW75680,EAW75681,BAD92634,AAD38428,BAG51099,BAG63799,AAH50449,Q59FR3,Q86TH5,Q9Y6D5 Hs.62578 BIG2|FLJ23723|PVNH2|dJ1164I10.1 brefeldin A-inhibited GEP 2|brefeldin A-inhibited guanine nucleotide-exchange protein 2 protein-coding 732747 ARFIP1 ADP-ribosylation factor interacting protein 1 1580863 16712791,12606037,9038142,16396496,15489334,15146197,14702039,12477932,11337467,10413101,9694811 27236 NM_001025595,NM_001025593,NM_014447,AC099339,AC106882,AC113155,CH471056,AF124489,AK096509,AK290472,AK299600,AK304141,AK316125,AU099007,BC103759,BC105114,BC105116,BC143675,BC143676,CB127228,CN305403,CR602975,U52521 NP_001020766,NP_001020764,NP_055262,EAX04968,EAX04969,EAX04970,EAX04971,EAX04972,AAD29390,BAC04806,BAF83161,BAG61531,BAG65035,BAH14496,AAI03760,AAI05115,AAI05117,AAI43676,AAI43677,AAA97923,P53367,Q2M2X4,Q8N8M9 Hs.416089 HSU52521|MGC117369 ADP-ribosylation factor-interacting protein 1|arfaptin 1|arfaptin-1 protein-coding 1349532 ARFIP2 ADP-ribosylation factor interacting protein 2 1580863 8670882,9312003,16189514,15489334,12477932,11854752,11478794,11346801,9038142,12972563,15809304 23647 AC084337,CH471064,AK026390,AK300855,AK301856,AK301972,AK304512,AK310267,AK310833,AK311086,AW612115,BC000392,BG745048,BM928413,CR590849,CR597929,CR598632,CR599738,CR603783,CR606576,CR610961,CR615705,CR620301,CR621163,CR624466,CR625862,U52522,X97567,NM_012402 NP_036534,EAW68707,EAW68708,BAG62505,BAG63298,BAG63384,BAG65318,AAH00392,AAA97924,CAA66179,P53365,ABM82893,ABM86082 Hs.75139 POR1 ADP-ribosylation factor-interacting protein 2|arfaptin 2|arfaptin-2|partner of RAC1 (arfaptin 2) protein-coding 732355 ARFRP1 ADP-ribosylation factor related protein 1 The protein encoded by this gene is a membrane-associated GTP-ase and localizes to the plasma membrane. It is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) genes. The gene is located in a gene cluster that includes the a gene (M68) that is overexpressed in some tumors. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 727256,1580863 15077113,14702039,12477932,11780052,10655513,10092663,15489334,8530503,17127620,16129887,15761153,19224922 727256 10139 NM_001134758,AF217796,AL121845,CH471077,AK095962,AL522492,AL533893,AL833084,AW139294,BC021023,BC092480,BC093967,BC143447,BC143448,BC143467,BC143472,BC143477,BI524032,BI711667,BM549361,BP384879,BT019624,NM_003224,BT019663,CR456752,CR590403,CR591044,CR595028,CR596379,CR596566,CR598656,CR602635,CR602845,CR606714,CR613687,CR614799,CR616488,CR622794,CR623922,CR626595,CR626804,X91504 NP_003215,NP_001128230,AAF35246,CAC03669,CAC28316,CAC28317,EAW75230,EAW75231,EAW75232,EAW75233,EAW75234,EAW75235,EAW75236,EAW75237,BAG53176,AAH92480,AAH93967,AAI43448,AAI43449,AAI43468,AAV38430,AAV38469,CAG33033,CAA62804,Q13795,Q9BQK5,Q9BQK6 Hs.389277 ARL18|ARP|Arp1 ADP-ribosylation factor-related protein 1|ARF-related protein 1|OTTHUMP00000031584|SCG10 like-protein|helicase-like protein NHL protein-coding 1353986 ARG1 arginase, liver Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. [provided by RefSeq] 2300098,1580863,1599208,1599211,4143185,4143230,4142795,4143187,631755,70249,4143282,4142796,634666,4144054,4144044,4142834,4142848,4143279,631989,1626298,4140476,4143368,1626296 3540966,19303401,19286931,19281908,19258923,19253371,18957279,18617639,17934065,17703412,17469833,17369504,17347269,17255300,17119118,17113085,16720041,16709958,16387594,15998894,15489334,14702039,14574404,12477932,20200399,20661013,12139964,12115381,12083807,11849441,11750286,11224628,10542097,10502833,9686347,7649538,3752085,3658675,3174433,2913054,2365823,2241902,1598908,1463019,18478052,19101531,19282757,19293328,19431148,19508396,19615732,19636440,19684035,19687346,19789190,19801451,19896478,19936428,20032293,20124949,20153713,20473875,20503287,19913121,20628086,20851928,21039601,19713467,20562859,20711410 2300098,1599208,1599211,4143185,4143230,4142795,4143187,631755,70249,4143282,4142796,634666,4144054,4144044,4142834,4142848,4143279,631989,1626298,4140476,4143368,1626296 383 NM_000045,NG_007086,AL121575,CH471051,X12662,AK128314,AY074488,BC005321,BC020653,BT006741,CR615342,M14502 NP_000036,CAB92071,CAI23317,CAI23318,EAW48053,EAW48054,EAW48055,EAW48056,CAA31188,AAL71547,AAH05321,AAH20653,AAP35387,AAA51776,P05089,ABM82965,ABM86156 Hs.440934 arginase 1|arginase-1|liver-type arginase|type I arginase protein-coding 732329 ARG2 arginase, type II Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq] 1626297,1626296,1626298,734607,1580863,1300048,4143269,631989,4143187,4144054,4142834,4143274,4144088,4143282,4110828 9144563,8898077,19281908,18528866,18348861,18202758,17353439,16720041,16675494,16387594,20877624,21039601,20107769,20711410,20853600,16128822,15955070,15489334,15364894,12859189,12477932,11849441,11370664,9686347,9256072,8954792,19284655,19508396,19636440,19684035,19789190,19801451,20071203,20124949 1626297,1626296,1626298,734607,4143269,631989,4143187,4144054,4142834,4143274,4144088,4143282,4110828 384 NM_001172,NG_011964,AL049779,AL132640,CH471061,AK312484,AL135439,AY074489,BC001350,BC008464,BC029050,CR536550,CR595402,CR595481,CR598558,CR625558,D86724,U75667,U82256,HI574250 NP_001163,EAW80943,EAW80944,BAG35387,AAL71548,AAH01350,AAH08464,AAH29050,CAG38787,BAA13158,AAB39855,AAC51664,P78540,CBX47614 Hs.723133 L-arginine amidinohydrolase|L-arginine ureahydrolase|arginase 2|arginase-2, mitochondrial|kidney arginase|kidney-type arginase|non-hepatic arginase|nonhepatic arginase|type II arginase protein-coding 1605759 ARGFX arginine-fifty homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq] 17005330 503582 NM_001012659,AC069239,BX282631 NP_001012677,A6NJG6 Hs.224976 arginine-fifty homeobox protein-coding 1605758 ARGFXP1 arginine-fifty homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq] 17005330 503583 NG_004853,AC093267 pseudo 1602609 ARGFXP2 arginine-fifty homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq] 17005330 503640 NR_002222,AC116407,AA613199 Hs.631752 pseudo 1605984 ARGLU1 arginine and glutamate rich 1 20098747,15302935,14702039,12477932,17207965 55082 NM_018011,AL442127,CH471085,AA445997,AI623424,AK001016,BC030508,BC050434,BC071587,CR625403,CR936748,DB482545 NP_060481,CAI13166,CAI13167,CAI13168,EAX09086,EAX09087,BAA91467,AAH50434,AAH71587,Q9NWB6,ADQ33089 Hs.508644 DKFZp686O08106|FLJ10154|RP11-297I6.1 arginine and glutamate-rich protein 1 protein-coding 1314470 ARHGAP1 Rho GTPase activating protein 1 1580863 8253717,12901880,8288572,18029348,19103606,19066281,18619034,18579725,18060510,16189514,15588985,15489334,15282546,15262974,15169898,14724572,14718574,14702039,14697242,12501193,12477932,11741952,10954711,10799524,10555980,10551883,9548756,9407060,9268338,9262406,9034330,9009196,8805223,1905930,1903516,20660160,9535855,9427749,12944407,15652341,11927263,19801982,19911011,9338791,9846874 392 NM_004308,AC115088,CH471064,AK126404,AK298562,AK307296,AK310605,BC018118,U02570,U62794,Z23024 NP_004299,EAW67982,EAW67983,EAW67984,BAG60756,AAH18118,AAA16142,AAB66594,CAA80560,O15376,Q07960,ABM85071 Hs.138860 CDC42GAP|RHOGAP|RHOGAP1|p50rhoGAP CDC42 GTPase-activating protein|GTPase-activating protein rhoOGAP|p50-RhoGAP|rho GTPase-activating protein 1|rho-related small GTPase protein activator|rho-type GTPase-activating protein 1 protein-coding 1322908 ARHGAP10 Rho GTPase activating protein 10 737633 15471851,12477932,11432776,8288572,19911011,20031603,20158304,20332263,20379614 737633 79658 NM_024605,AC093678,AC093835,AC115621,AC125241,CH471056,AB050785,AK024549,AK123034,AK123785,AK130998,AK304458,AL834360,BC011920,BC047914,BC106018,BC109029,BC109030,BC126899,BC128055,BX647727,CR457328 NP_078881,EAX05009,EAX05010,BAB61771,BAB14924,BAG53857,BAG65274,CAD39024,AAH11920,AAH47914,AAI06019,AAI09030,AAI09031,AAI26900,AAI28056,CAG33609,A1A4S6,Q3KQX3,Q6IA27,Q86T21,Q8ND72,Q9H7G7 Hs.368631 FLJ20896|FLJ41791|GRAF2|PS-GAP|PSGAP GTPase regulator associated with focal adhesion kinase 2|graf-related protein 2|rho GTPase-activating protein 10|rho-type GTPase-activating protein 10 protein-coding 1602334 ARHGAP11A Rho GTPase activating protein 11A 16565220,15489334,12477932,11829490,7584028,7584026,15778465,15782160,17207965 9824 NM_014783,NM_199357,AC123768,CH471125,AK303025,BC039563,BC050545,BC063444,CR625523,D87717,AK316437 NP_055598,NP_955389,EAW92260,BAG64151,AAH39563,AAH63444,BAA13442,Q6P4F7,ACT64423,ACT64424,BAH14808,ADQ31984 Hs.591130 KIAA0013|MGC70740 GAP (1-12)|rho GTPase-activating protein 11A|rho-type GTPase-activating protein 11A protein-coding 1350534 ARHGAP11B Rho GTPase activating protein 11B 12477932,11829490,8889549 89839 NM_001039841,AC091057,BC105788,AK310319,BC071990 NP_001034930,AAI05789,Q3KRB8 Hs.659621 B'-T|D-X|FAM7B1|MGC104367 GAP (1-8)|family with sequence similarity 7, member B1|rho GTPase-activating protein 11B|rho-type GTPase-activating protein 11B protein-coding 1320676 ARHGAP12 Rho GTPase activating protein 12 RHO GTPases (see ARHA, MIM 165390) that participate in a wide variety of cellular processes are active in their GTP-bound form and inactive in their GDP-bound form. The hydrolysis of GTP and the inactivation of these GTPases are regulated by GTPase-activating proteins (GAPs), such as ARHGAP12 (Zhang et al., 2002 [PubMed 11854031]).[supplied by OMIM] 18984674,15489334,15345747,15144186,14702039,12477932,12297274,11854031,16385451,18504429 94134 NM_018287,AL390715,CH471072,AK000744,AK001833,AK025438,AK091182,AK127611,AK315066,AL137485,AL834250,AY033594,AY033595,BC051811,BC094719,BC115362,BC115363,CR613881,CR936681,BX641115 Q504X1,NP_060757,CAI12370,CAI12371,CAI12372,CAI12373,EAW85979,EAW85980,EAW85981,EAW85982,EAW85983,EAW85984,EAW85985,BAA91932,BAB15131,BAG52300,CAB70766,CAD38926,AAK52311,AAK52312,AAH51811,AAH94719,AAI15363,AAI15364,Q1RLN5,Q8IWW6,Q9H6W9,Q9NV28,CAE46053 Hs.499264 DKFZp779N2050|FLJ10971|FLJ20737|FLJ21785|FLJ45709 OTTHUMP00000019407|rho GTPase-activating protein 12|rho-type GTPase-activating protein 12 protein-coding 1348610 ARHGAP15 Rho GTPase activating protein 15 RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM] 15761153,15459234,15342556,12650940,12477932,11042152,9373149,8125298,18482256,19197348,20379614,20468071,18541383 55843 NM_018460,AC013437,AC079584,AC079793,AC092652,AC096558,AC098857,AC109639,CH471058,AF212222,AF217507,AF217522,AK226014,AK303490,AK308219,AY219338,BC016701,BC038976,BP299206 NP_060930,AAX93160,AAX82009,AAY24215,AAY14811,AAX93158,AAX93245,EAX11587,EAX11588,EAX11589,EAX11590,AAF87324,AAF67618,AAF67633,BAG64525,AAO34684,AAH16701,AAH38976,Q53QZ3 Hs.171011 BM046 rho GTPase-activating protein 15|rho-type GTPase-activating protein 15 protein-coding 1351374 ARHGAP16P Rho GTPase activating protein 16 pseudogene 319102 NG_002492,AL358913 ARHGAP15P pseudo 1343283 ARHGAP17 Rho GTPase activating protein 17 RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM] 633422,1580863 20379614,20936779,16678097,15489334,14702039,12477932,11431473,11285285,11181995,10967100 633422 55114 NM_018054,AC008731,AC010545,CH471145,AF113218,AF163257,AF173885,AF258560,AF258580,AJ306731,AJ306732,AK001170,AK023281,AK027567,AK125358,AK291691,AK301055,AK301500,AL833975,BC001241,BC080195,BI906519,CR602276,CR603587,CR620475,NM_001006634,AK094886 NP_060524,NP_001006635,EAW55778,EAW55779,EAW55780,AAG39289,AAQ13586,AAQ13632,AAG23763,AAG23783,CAC37948,CAC37949,BAB14506,BAB55203,BAC86144,BAF84380,BAG62665,BAG63011,CAD38819,AAH01241,AAH80195,Q68EM7,Q8WY69,Q8WY87,Q9H3E7 Hs.373793 DKFZp564A1363|FLJ37567|FLJ43368|MGC87805|MST066|MST110|MSTP038|MSTP066|MSTP110|NADRIN|PP367|PP4534|RICH1|RICH1B|WBP15 RICH-1|RhoGAP interacting with CIP4 homologs 1|neuron-associated developmentally regulated protein|rho GTPase-activating protein 17|rho-type GTPase-activating protein 17|rhoGAP interacting with CIP4 homologs protein 1 protein-coding 1312852 ARHGAP18 Rho GTPase activating protein 18 1580863 14702039,14574404,12477932,15231747,19065146,18987618,15489334,16712791 93663 NM_033515,AL450310,CH471051,AB053293,AI337078,AK002195,AK098594,AK307796,AL834511,AY643712,BC017223,BC039611,BC052295,BC062417,BC073143,BC101708,BC107416,BC111940,BC143531,BM557223,CB149638 NP_277050,CAH72298,EAW48076,EAW48077,EAW48078,BAB61887,CAD39167,AAT64914,AAH17223,AAH39611,AAH62417,AAI01709,AAI07417,AAI11941,Q8N392 Hs.486458,Hs.708586 FLJ25728|MGC126757|MGC138145|MacGAP|bA307O14.2 OTTHUMP00000017190|rho GTPase-activating protein 18|rho-type GTPase-activating protein 18 protein-coding 1351019 ARHGAP19 Rho GTPase activating protein 19 Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM] 17454002,15489334,15164054,14702039,12693554,12477932,9110174,8619474,16385451,16713569 84986 NM_032900,AL359385,CH471066,AK074122,AK090447,AK093316,AK093441,AK303055,BC007848,BC082250,BC103749,BC113888,BC114490,BI830638,BX648189,BX648194,CD743029,CR749412,DQ338460,U79256 NP_116289,CAI13728,CAI13731,EAW49952,EAW49953,EAW49954,EAW49955,BAB84948,BAC03428,BAC04130,BAC04165,BAG64173,AAI13889,AAI14491,CAH18254,ABC69298,Q14CB8,Q8NA01 Hs.80305 DKFZp313K217|MGC138804|MGC138805|MGC14258 OTTHUMP00000020188|putative RhoGAP protein|rho GTPase-activating protein 19|rho-type GTPase-activating protein 19 protein-coding 1350363 ARHGAP20 Rho GTPase activating protein 20 16014623,15543602,15489334,15234003,14532992,12477932,10718198,20379614 57569 BQ003257,AP001883,AP001980,AP003460,CH471065,AB037812,AI936560,AK292290,AK307602,AY496263,AY496264,AY496265,AY496266,AY496267,BC039340,NM_020809,EF444953 Q9P2F6,NP_065860,EAW67133,EAW67134,BAA92629,BAF84979,AAS45466,AAS45467,AAS45468,AAS45469,AAS45470,AAH39340,ACA05945 Hs.6136 KIAA1391|RARHOGAP RA and RhoGAP domain containing protein|rho GTPase-activating protein 20|rho-type GTPase-activating protein 20 protein-coding 1322263 ARHGAP21 Rho GTPase activating protein 21 ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM] 17347647,15793564,14702039,12477932,12056806,10718198,7829101,15778465,11238453,16385451,19268501 57584 NM_020824,AL355979,AL392104,CH471072,AB037845,AF480466,AK074589,AK090642,AK295649,AK297278,AK307604,AL834495,AV709499,AV709848,BC022931,BC118915,BI491305,BQ026288,BX537570 NP_065875,CAI14323,CAI14324,CAI14325,CAI40176,CAI40177,CAI40178,CAI40180,CAI40181,CAI40184,EAW86122,BAA92662,AAM22955,BAH12139,BAG59749,CAD39153,AAH22931,AAI18916,CAD97787,Q5JSD4,Q5JSD8,Q5T5U1,Q5T5U2,Q5T5U3 Hs.524195 ARHGAP10|DKFZp761L0424|FLJ33323|FLJ90108 OTTHUMP00000019321|Rho-GTPase activating protein 10|rho GTPase-activating protein 10|rho GTPase-activating protein 21|rho-type GTPase-activating protein 21 protein-coding 1316310 ARHGAP22 Rho GTPase activating protein 22 ARHGAPs, such as ARHGAP22, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM] 737633,1580863 16385451,20379614,15489334,15254788,14702039,12477932,8619474,20585324 737633 58504 CR600275,EF560749,U90908,AC016397,AC016399,CH471187,AK055037,AK055937,AK127586,NM_021226,AK293579,AY324801,BC047096,BC126444,BC136319 ABQ59059,AAB51057,Q7Z5H3,NP_067049,EAW93125,EAW93126,EAW93127,BAG51453,BAC87044,BAG57049,AAP85632,AAI26445,AAI36320,ADR83111 Hs.655672 RhoGAP2 OTTHUMP00000019561|OTTHUMP00000217291|rho GTPase-activating protein 22|rho-type GTPase-activating protein 22 protein-coding 1320244 ARHGAP23 Rho GTPase activating protein 23 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM] 17643375,16625196,15254754,12477932,10819331,15146197,16368877 57636 NM_020876,AC115090,AB040934,BC039190,BM548592,BY795315,CN429246,CN429249,CN429251,CR746382,DN831435,EG328307,NM_001199417,R42869 NP_065927,BAA96025,Q9P227,NP_001186346 Hs.374446 KIAA1501 rho GTPase-activating protein 23|rho-type GTPase-activating protein 23 protein-coding 1315415 ARHGAP24 Rho GTPase activating protein 24 ARHGAPs, such as ARHGAP24, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM] 1580863 11230166,9847074,16862148,19293932,19144823,16344560,15611138,15489334,15302923,15254788,14702039,12601173,12477932,11256614,18029348,20062060,20062063,20379614,20670164 83478 NM_001025616,NM_001042669,NM_031305,AC097108,AC098870,AC104059,AC104810,AC115620,AC139716,CH471057,AK091196,AK098193,AK130576,AK307423,AK308019,AL136646,AY211925,BC047918,BC098580,CR601064,CR617684,DA546029,DA815489,DB109452 NP_001020787,NP_001036134,NP_112595,EAX05959,EAX05960,EAX05961,BAC03606,BAG53589,BAC85384,CAB66581,AAO65178,AAH47918,AAH98580,Q8N264 Hs.444229 DKFZp564B1162|FILGAP|FLJ33877|RC-GAP72|RCGAP72|p73|p73RhoGAP OTTHUMP00000160982|OTTHUMP00000218767|RAC1- and CDC42-specific GTPase-activating protein of 72 kDa|filamin-A-associated RhoGAP|rho GTPase-activating protein 24|rho-type GTPase-activating protein 24|rhoGAP of 73 kDa|sarcoma antigen NY-SAR-88 protein-coding 1351716 ARHGAP25 Rho GTPase activating protein 25 ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM] 737633,1580863 15489334,15254788,12477932,7584044,19911011 737633 9938 NM_014882,AC097495,AC105054,AC112700,CH471053,AK290396,AK297056,AK297157,AK298669,AK303591,AK310742,AK311669,NM_001007231,BC032222,BC039591,BX443252,CR603706,CR607155,CR617270,D29642,CD695161,NM_001166276,NM_001166277 NP_001007232,NP_055697,AAY15074,AAY24006,EAW99866,EAW99867,EAW99868,BAF83085,BAH12484,BAH12510,BAH12841,BAH13993,AAH39591,BAA06125,P42331,Q53QF7,Q53R16,NP_001159748,NP_001159749 Hs.531807 KAIA0053 OTTHUMP00000202081|OTTHUMP00000214416|OTTHUMP00000214419|OTTHUMP00000214420|OTTHUMP00000214421|rho GTPase-activating protein 25|rho-type GTPase-activating protein 25 protein-coding 1322105 ARHGAP26 Rho GTPase activating protein 26 1599311,1580863 20533268,10908648,11432776,11998687,9582072,18929667,14702039,12477932,10737800,9858476,9734811,9525907,8649427,7836419,20374274,20602808,20704716,18759275,20379614 1599311 23092 NM_015071,NM_001135608,AC004782,AC005348,AC005574,AC008533,AC012630,AF196313,AF508552,CH471062,Y10388,AB014521,AK092488,AK095220,AK123519,AK124521,AK298708,BC021059,BC068555,BF085236,CR610690,HM037040,NG_016711 NP_055886,NP_001129080,AAG30729,AAM61871,EAW61876,EAW61877,CAA71414,BAA31596,BAG53008,BAG60864,AAH68555,Q8NFJ1,Q9HBW4,Q9UNA1,ADI49692 Hs.654668 FLJ42530|GRAF|KIAA0621|OPHN1L|OPHN1L1 GTPase regulator associated with focal adhesion kinase pp125(FAK)|oligophrenin-1-like protein|rho GTPase-activating protein 26|rho-type GTPase-activating protein 26 protein-coding 1346833 ARHGAP27 Rho GTPase activating protein 27 Rho (see ARHA; MIM 165390)-like small GTPases are involved in many cellular processes, and they are inactive in the GDP-bound state and active in the GTP-bound state. GTPase-activating proteins, such as ARHGAP27, inhibit Rho-like proteins by stimulating their intrinsic GTPase activity (Katoh and Katoh, 2004 [PubMed 15492870]).[supplied by OMIM] 1302833 15492870,15147912,14702039,12477932,12107413 1302833 201176 NM_199282,NM_001159330,AC003070,AC091132,AC217778,CH471178,AK092891,AK125535,AK300880,BC029634,BC101388,BC101389,BC101390,BC101391,BX386761,CD675139 NP_954976,NP_001152802,EAW51528,BAC86196,BAH13366,AAH29634,AAI01389,AAI01390,AAI01391,AAI01392,Q6ZUM4,Q8N2Y9 Hs.463165,Hs.721398 CAMGAP1|FLJ35572|FLJ43547|MGC120624 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1|rho GTPase-activating protein 27|rho-type GTPase-activating protein 27 protein-coding 1347841 ARHGAP28 Rho GTPase activating protein 28 737633 10718198,16177791,15489334,14702039,12477932 737633 79822 AI435330,AK130670,DC401238,NM_001010000,AP005210,CH471113,AB037735,AK001174,AK024298,AK289791,AK308259,BC033668,BC065274,BG720645,BX648684,AK302026 NP_001010000,EAX01633,EAX01634,EAX01635,BAA92552,BAA91533,BAF82480,AAH33668,AAH65274,Q9P2N2,BAG63424 Hs.183114 DKFZp686A2038|FLJ10312|FLJ27160 rho GTPase-activating protein 28|rho-type GTPase-activating protein 28 protein-coding 1606326 ARHGAP29 Rho GTPase activating protein 29 19911011,9305890,17488656,16189514,15752761,12477932,8889548,7566098,14749388 9411 AL162735,CH471097,AA326126,AB208873,AK307733,AK310491,AL833445,AW295796,BC022483,BC037337,BC067839,BC093741,BC093767,BF115799,NM_004815,BI548487,BU507990,BX508890,CA454270,CB852768,U90920 NP_004806,CAH71750,CAH71751,EAW73051,EAW73052,BAD92110,AAH22483,AAH67839,AAH93741,AAH93767,AAB81012,Q52LW3 Hs.483238 PARG1|RP11-255E17.1 PTPL1-associated RhoGAP 1 (PARG1)|PTPL1-associated RhoGAP protein 1|rho GTPase-activating protein 29|rho-type GTPase-activating protein 29 protein-coding 1604190 ARHGAP30 Rho GTPase activating protein 30 16710414,15489334,15144186,12477932 257106 NM_181720,AL591806,CH471121,AK126116,AK126163,AK160366,AL832852,AL833477,BC025732,BC043387,NM_001025598,BC053688,BX537846 NP_001020769,NP_859071,CAI15373,CAI15374,CAI15375,EAW52667,EAW52668,EAW52669,EAW52670,EAW52671,EAW52672,EAW52673,EAW52674,BAC86447,BAD18709,AAH43387,AAH53688,CAD97855,Q6ZTY0,Q7Z6I6 Hs.389374 FLJ00267|FLJ44128|RP11-544M22.6 OTTHUMP00000029705|rho GTPase-activating protein 30|rho-type GTPase-activating protein 30 protein-coding 1343373 ARHGAP4 Rho GTPase activating protein 4 1580863 8570618,18029348,18489790,16381901,15489336,12736724,12477932,12447388,12414125,11754100,11256614,11076863,10655059,8590280,7981673,16417406,11756498,12376548,12787561,20237496,19913121,20628086 393 NM_001666,CH471172,Z68128,AK294562,AY183123,BC023626,BC052303,CR599676,CR615863,D50921,X78817,AI249937,NG_013220,NM_001164741 NP_001657,EAW72777,EAW72778,EAW72779,EAW72780,EAW72781,EAW72782,CAA92213,BAH11812,AAO66337,AAH23626,AAH52303,BAA09480,CAA55394,P98171,Q6PJ34,Q86UY3,Q9UGE8,CAL37504,CAL38100,NP_001158213 Hs.701324 C1|KIAA0131|RGC1|RhoGAP4|SrGAP4|p115 OTTHUMP00000063090|OTTHUMP00000196209|Rho-GAP hematopoietic protein C1|rho GTPase-activating protein 4|rho-type GTPase-activating protein 4 protein-coding 3500508 ARHGAP42 Rho GTPase activating protein 42 14702039,16344560,18954304,20379614 143872 AC015600,AI672473,AI677857,AK023666,AK057372,AP000872,AP001351,BM014001,BU146672,DA800121,EG328683,NM_152432 A6NI28,BAB71456,NP_689645 Hs.269837 FLJ32810|GRAF3|KIAA0621 rho GTPase-activating protein 10-like|rho GTPase-activating protein 42|rho-type GTPase-activating protein 42 protein-coding 1318315 ARHGAP5 Rho GTPase activating protein 5 Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8537347,1689011,18996642,16777052,16469769,15588985,15231748,14702039,14610059,12842009,12554790,12477932,10939588,10713673,8889548,7935432,10092539,10769036,8344248,19822667 394 NM_001030055,NM_001173,AL161665,CH471078,AB209751,AK023468,AK292966,AK307454,AL045112,AY316523,BC032723,BC050059,BC075799,BC129928,BC129929,CA945100,CR596496,U17032 NP_001025226,NP_001164,EAW65935,EAW65936,EAW65937,EAW65938,BAD92988,BAF85655,AAP83192,AAH32723,AAH50059,AAH75799,AAI29929,AAI29930,AAA95963,Q13017,Q7Z2X2 Hs.592313 GFI2|RhoGAP5|p190-B|p190BRhoGAP growth factor independent 2|p100 RasGAP-associated p105 protein|p105 RhoGAP|rho GTPase-activating protein 5|rho-type GTPase-activating protein 5 protein-coding 1349829 ARHGAP6 Rho GTPase activating protein 6 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8570618,10699171,18434237,12673365,12477932,9417914,19913121,20628086 395 AF012272,AF022212,AF117067,AF177663,AF177665,AK293078,AK297713,AK297747,AK303444,BC035785,BC150635,NM_013427,NM_013423,NM_006125,NG_012494,AC002366,AC003657,AC004467,AC004554,AC130886,AC130890,CH471074,AB208792 AAC98539,BAD92029,AAC98540,AAF43261,AAD53166,AAD55087,BAF85767,BAG60069,BAG60097,BAH13963,AAI50636,O43182,Q59HG6,NP_038286,NP_038267,NP_006116,EAW98786,EAW98787,EAW98788,EAW98789,EAW98790,EAW98791 Hs.435291 RHOGAP6|RHOGAPX-1 OTTHUMP00000022917|Rho-type GTPase-activating protein RhoGAPX-1|rho GTPase-activating protein 6|rho-type GTPase-activating protein 6 protein-coding 1606315 ARHGAP8 Rho GTPase activating protein 8 This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. Rare read-through transcripts, containing exons from the PRR5 gene which is located immediately upstream, led to the original description of this gene as encoding a RHOGAP protein containing the proline-rich domains characteristic of PRR5 proteins. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq] 19913121,20628086,20179103,15944398,15506981,15225876,15064355,14702039,12944407,12559566,12477932,12297274,10591208,15955831,16555160,18217980 23779 NM_001017526,NM_181335,Z83838,Z93244,AK001306,AK022305,BC010490,BC048280,BC059382,BC067824,BC093675,BC111953,AF544240,AI284954,CR600027,CR608243,CR619940,CR622409,NM_001198726 NP_001017526,NP_851852,CAI19475,CAO03544,CAO03545,CAQ07742,CAQ07746,CAI17883,CAO03394,CAO03395,CAQ06712,CAQ06713,AAN40769,BAA91614,BAB14008,AAH10490,AAH48280,AAH59382,AAH93675,AAI11954,P85298,Q52M44,Q6PCC7,Q6PJW1,Q86XV6,Q8IZM6,NP_001185655 Hs.720401 BPGAP1|FLJ20185|PP610 BCH domain-containing Cdc42GAP-like protein|BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1|OTTHUMP00000082599|OTTHUMP00000082600|OTTHUMP00000219408|rho GTPase-activating protein 8|rho-type GTPase-activating protein 8 protein-coding 1313314 ARHGAP9 Rho GTPase activating protein 9 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16344560,16189514,15489334,15231748,14702039,12477932,12297274,11396949,17284314,19807924,19911011 64333 NM_001080157,NM_001080156,AC022506,NM_032496,AB030239,AB051853,AF161339,AK057573,AK092763,AK131415,AK300910,AK301095,AK304107,AL713803,BC006107,BC011820,CB528354,CR610490,CR618863,DA675251,CH471054,NG_023205 NP_115885,NP_001073626,NP_001073625,EAW97014,EAW97015,EAW97016,EAW97018,BAB83128,BAB56159,AAF28899,BAG51936,BAC03969,BAD18562,BAG62545,BAG62695,BAG65010,CAD28552,AAH06107,AAH11820,Q8NAF3,Q9BRR9,Q9P0G0,ABM87429,ABW03888,EAW97017 Hs.437126 10C|FLJ16525|MGC1295|RGL1 OTTHUMP00000196433|rho GTPase-activating protein 9|rho-type GTPase-activating protein 9 protein-coding 1354371 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha Aplysia Ras-related homologs (ARHs), also called Rho genes, belong to the RAS gene superfamily encoding small guanine nucleotide exchange (GTP/GDP) factors. The ARH proteins may be kept in the inactive, GDP-bound state by interaction with GDP dissociation inhibitors, such as ARHGDIA (Leffers et al., 1993 [PubMed 8262133]).[supplied by OMIM] 1580863 19401544,20812987,20936779,8262133,17353931,16130169,18992375,18768928,18702520,18651761,18524772,18070886,17909265,17653765,17330946,16943322,16916647,16236267,16169070,15513926,15489334,12477932,11513579,11513578,11320308,11149925,10713718,10676816,10673424,10664460,10346909,9681826,9490022,9287351,9195882,9186513,16526095,11368848,11809807,15659383,15225553,20472934,17335080,20043072,20305651,20381070,10489445,10595511,12692556,12951563,15128850,16215275,20400958,20696765 396 AC137723,CH471099,X63863,AF498926,AK293147,AK300816,AK312347,BC005851,BC005875,BC007630,BC008701,BC009759,BC013846,BC016031,BC016185,BC024258,BC027730,BC028333,BC075827,NM_004309,BC106044,BT006884,CR456777,CR590519,CR594088,CR595053,CR597273,CR597482,CR598667,CR599297,CR600294,CR603762,CR604600,CR606983,CR609352,CR609835,CR612591,CR612624,CR615458,CR617872,CR617926,CR619312,CR620401,CR620998,CR621432,CR624264,CR624605,D13989,M97579,X69550,AC145207,BM552638,DC406556,NM_001185077,NM_001185078 NP_004300,EAW89697,EAW89698,CAA45344,AAM21074,BAG56694,BAG62471,BAG35268,AAH05851,AAH05875,AAH08701,AAH09759,AAH16031,AAH16185,AAH24258,AAH27730,AAH75827,AAI06045,AAP35530,CAG33058,BAA03096,AAA36566,CAA49281,P52565,ABM82043,ABM85222,NP_001172006,NP_001172007 Hs.159161 GDIA1|MGC117248|RHOGDI|RHOGDI-1 rho GDI 1|rho GDP-dissociation inhibitor 1|rho-GDI alpha protein-coding 1313380 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 1580863 8262133,8356058,16130169,8434008,9113980,19351766,19321744,19276387,19269969,18689726,18676680,18037226,18006811,17826660,17487395,15592455,15489334,15173088,12477932,12386169,12203895,11989976,11368848,10779444,10664460,10655614,9799233,9490022,9287351,7896279,7513052,2226408,18303015,11809807,20596634,19064571,19170196,19509238,19625176,19692168,20013033,8626669,20375790 397 AC007655,CH471094,NM_001175,AA143425,AB451315,AB451445,AF498927,AK311807,BC009200,CR590127,CR590876,CR596151,CR596642,CR605375,CR610137,CR615019,CR616298,CR624952,L07916,L20688,X69549,FB571118,FB668249 NP_001166,EAW96336,EAW96337,EAW96338,EAW96339,EAW96340,EAW96341,EAW96342,BAG70129,BAG70259,AAM21075,BAG34750,AAH09200,AAA59539,CAA49280,P52566,ABM84229,ABM87475,CAR95110,CAS92768 Hs.504877 D4|GDIA2|GDID4|LYGDI|Ly-GDI|RAP1GN1|RhoGDI2 Rho GDI 2|rho GDP-dissociation inhibitor 2|rho-GDI beta protein-coding 1321818 ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma 1580863 9113980,15616553,15513926,15489334,12477932,11967128,11157797,9787082,8939998,8889548,11809807,14764880,20098615 398 NM_001176,AE006463,AF080237,CH471112,Z69667,AF498928,BC047699,BU732723,U82532,BM662457 NP_001167,AAK61222,AAC72354,EAW85837,CAI95584,CAI95585,CAM26353,AAM21076,AAH47699,AAC33138,Q99819 Hs.647388 RHOGDI-3 OTTHUMP00000067353|OTTHUMP00000194914|RhoGDI gamma|rho GDI 3|rho GDP-dissociation inhibitor 3|rho-GDI gamma protein-coding 1351280 ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq] 11524686,11384980,11358341,9641916,9641915,9135076,10556093,14634662,12581858,10608806,20936779,12692556,12951563,16215275,17335080,17643375,18029348,19720875,19911011,20619149,8810315,12681510,10747909,11313914,10648409,18320579,17493936,15753034,15735747,15489334,15143072,14712228,12754211,12748184,12534370,12525488,12477932,12372594,12270917,19913121,20628086 9138 NM_198977,NM_199002,AC010616,CH471126,AK026781,AL832294,BC005155,BC011726,BC015652,BC034013,BC035127,BC064996,BC067262,BM147791,BQ944132,BT007421,CR615730,CR620754,U64105,NM_004706 NP_004697,NP_945328,NP_945353,EAW57077,EAW57078,EAW57079,EAW57080,EAW57081,EAW57082,EAW57083,EAW57084,AAH05155,AAH11726,AAH34013,AAH35127,AAH67262,AAP36089,AAB17896,Q49AN3,Q6NX52,Q8NF33,Q92888,ABM84518,ABM85930,ACE87735,ACE87053 Hs.631550 GEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5 115 kDa guanine nucleotide exchange factor|115-kD protein|Lsc homolog|p115RhoGEF|rho guanine nucleotide exchange factor 1 protein-coding 1346816 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. [provided by RefSeq] 1580863 17893707,16896804,15489334,15146197,14508709,12477932,12168954,9314494,9205841,19615732,19635168,20042462,20379614 9639 NM_014629,NG_008480,AC019257,CH471181,CQ766815,AA758332,AB002292,AF009205,AI348138,AK309799,AL137508,BC026965,BC036809,BC040474,BC112926,CN307765,CR622006,CR749570 NP_055444,EAW51480,EAW51481,EAW51482,EAW51483,EAW51484,CAF33078,BAA20754,AAB71662,CAH10696,AAH36809,AAH40474,AAI12927,CAH18365,O15013,Q2KHR8,Q69YW1 Hs.98594 DKFZp686H0726|GEF10|MGC131664 rho guanine nucleotide exchange factor 10 protein-coding 1605662 ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like ARHGEF10L is a member of the RhoGEF family of guanine nucleotide exchange factors (GEFs) that activate Rho GTPases (Winkler et al., 2005 [PubMed 16112081]).[supplied by OMIM] 18849993,16112081,14702039,12477932,10997877,16169070,19911011,20379614 55160 NM_018125,NM_001011722,AL139250,AL358593,AL390994,BX538146,CH471134,AB046846,AK001383,AK092020,AK123471,AK126877,AK129606,AK129959,AK300174,AK300264,AK311076,AW455769,BC003073,BC029928,BC065561,BC080596,BC111058,BC117171,BC143347,DQ139833 NP_060595,NP_001011722,CAI22139,CAI22140,CAH74135,CAH74136,CAH74137,EAW94840,EAW94841,EAW94842,EAW94843,EAW94844,BAB13452,BAA91663,BAC03792,BAG54386,BAG61954,BAG62025,AAH65561,AAH80596,AAI17172,AAI43348,AAZ73162,Q5VXI4,Q9HCE6,ADR83391 Hs.443460 FLJ10521|GrinchGEF|KIAA1626|RP11-473A10.1 OTTHUMP00000002617|rho guanine nucleotide exchange factor 10-like protein protein-coding 734056 ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq] 1580863 12730235,12220504,12123608,20800603,15755723,10026210,19460155,18231709,18086913,17369523,17287471,17081983,16710414,16691626,16478718,16192272,15143072,14742719,14684465,14625312,12477932,12421765,12372594,12183458,11470431,11242047,10900204,10526156,9205841,11756498,12376548,12787561,15530360,16192269,17474147,18029348,19618964,19759375,20379614,20936779,20613766 9826 NM_014784,NM_198236,AL157713,AL356104,CH471121,AB002378,AK302500,AL832790,BC057394 NP_055599,NP_937879,CAH70127,CAH70128,EAW52892,EAW52893,EAW52894,BAA20834,BAH13728,AAH57394,O15085,Q6PFW2,CAH72939,CAH72940 Hs.516954 DKFZp667F1223|GTRAP48|KIAA0380|PDZ-RHOGEF Rho guanine exchange factor (GEF) 11|RhoA-specific guanine nucleotide exchange factor|RhoGEF glutamate transport modulator|glutamate transporter EAAT4-associated protein 48|rho guanine nucleotide exchange factor 11|rhogef glutamate transport modulator gtrap48 protein-coding 1312950 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein is observed to form myeloid/lymphoid fusion partner in acute myeloid leukemia. [provided by RefSeq] 1580863 20018869,20702813,10681437,9205841,14712228,11094164,15755723,16192269,19273616,19074425,18411422,17766704,16644711,16565089,16192274,15345747,15331592,15143072,12515866,12477932,12376551,12372594,12220504,12196628,12183458,11799111,11724822,11373293,20800603,11756498,12123608,12376548,12787561,19560536,19734946,19911011,20348106,20379614 23365 NM_001198665,AP000659,AP000758,AP001150,CH471065,AB002380,AF180681,AK294803,AK304316,AL137456,BC031784,BC063117,BX647785,BX648515,CR592713,CR620894,NM_015313,NG_027960 NP_001185594,NP_056128,EAW67508,EAW67509,EAW67510,BAA20836,AAF36817,BAG57923,BAG65168,AAH63117,Q9NZN5,Q9P149,AAI52901 Hs.24598 DKFZp686O2372|KIAA0382|LARG|PRO2792 leukemia-associated RhoGEF|leukemia-associated rho guanine nucleotide exchange factor|rho guanine nucleotide exchange factor 12 protein-coding 1315873 ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. [provided by RefSeq] 1580863 16189514,15489334,14702039,12775584,12477932,12168954,10048485,16344560,15604093,19911011 22899 AK023853,AK291626,AK300327,AL601528,BC036749,NM_173728,AC135178,CH471108,AB020722,BQ004849,BQ877184,DA632576,DB279954,NM_025014 BAF84315,BAG62077,AAH36749,O94989,BAA74938,NP_776089,EAW90060,EAW90061,NP_079290 Hs.443109 ARGEF15|FLJ13791|KIAA0915|MGC44868|Vsm-RhoGEF OTTHUMP00000135329|Rho GEF 15|Rho guanine exchange factor (GEF) 15|rho guanine nucleotide exchange factor 15 protein-coding 1347062 ARHGEF16 Rho guanine exchange factor (GEF) 16 Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq] 20679435,16710414,16344560,15489334,14702039,12477932,15778465,20339536,11756498,12376548,12787561,19911011 27237 NM_014448,AL512413,CH471130,AK091910,AK095984,AK296150,AK310408,BC002681,BC051838,BT007270,CR609468,D89016,DA539376,DB499586 NP_055263,CAH70832,CAH70833,CAQ07782,CAQ07783,EAW71452,EAW71453,BAG53186,BAG58889,AAH02681,AAH51838,AAP35934,BAA13745,Q5VV41,ABM92254,ABM84739 Hs.87435 GEF16|NBR OTTHUMP00000000684|OTTHUMP00000000685|Rho guanine exchange factor (GEF) 16|rho guanine nucleotide exchange factor 16 protein-coding 1320476 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 1580863 12071859,18029348,18677770,12477932,11559528,9205841,8889548,15778465,11756498,12376548,12787561,19911011 9828 NM_014786,AP000562,AP002761,CH471076,AB002335,AF378754,AI312037,AK074500,BC050031,BC137228,BM684780 NP_055601,EAW74891,BAA20795,AAL11991,AAH50031,AAI37229,Q96PE2 Hs.533719,Hs.573929 FLJ90019|KIAA0337|P164RHOGEF|TEM4|p164-RhoGEF 164 kDa Rho-specific guanine-nucleotide exchange factor|Rho-specific guanine-nucleotide exchange factor 164 kDa|rho guanine nucleotide exchange factor 17|tumor endothelial marker 4 protein-coding 1322915 ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 16344560,14512443,12477932,11318610,11085924,9628581,11756498,12376548,12787561,17643375,20200978 23370 NM_015318,NM_001130955,AC008878,AC119396,AA609742,AA829883,AB011093,AK074372,AK127045,BC008016,BC014994,BC077721,BQ055909,BX404969,DB075637 NP_056133,NP_001124427,BAA25447,BAC86801,AAH77721,Q6ZSZ5 Hs.465761 KIAA0521|MGC15913|P114-RhoGEF 114 kDa Rho-specific guanine nucleotide exchange factor|P114-RHO-GEF|Rho-specific guanine nucleotide exchange factor p114|Rho/Rac guanine nucleotide exchange factor 18|SA-RhoGEF|p114RhoGEF|rho guanine nucleotide exchange factor 18|septin-associated RhoGEF protein-coding 1312400 ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19 Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM] 737633,1580863 15485661,14702039,12477932 737633 128272 NM_153213,AL109627,CH471167,AK091281,AK297707,AL137736,BC012982,BC040640,CR606355,CR621382,CR625309 NP_694945,CAI22566,CAI22567,EAW51771,BAC03627,BAG60064,AAH12982,AAH40640,Q8IW93 Hs.591532 FLJ33962|RP4-733M16.1|WGEF rho guanine nucleotide exchange factor 19|weakly similar to Rho GEF protein-coding 1312226 ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq] 9857026,18287519,18095154,17488622,16964243,16778209,16565220,16381901,15866167,15827085,15489336,15324660,15302935,15146197,14970201,14702039,14676191,12477932,12384139,11912491,11595749,11230166,11076863,9734811,2466560,9843499,17353931,11756498,12376548,12787561,17643375,19043560,19615732,19625450,19667072,19805522,19911011,20089843 9181 NM_004723,NM_001162383,NM_001162384,AL355388,CH471121,AB014551,AF486838,AI925929,AK127366,AK295924,AK304548,AL512715,AL832538,BC020567,BC027722,BT007407,CN264153,CN388788,U72206,X15610 NP_004714,NP_001155855,NP_001155856,CAH72627,CAH72628,CAH72629,CAH72630,EAW53012,EAW53013,EAW53014,EAW53015,EAW53016,EAW53018,BAA31626,AAL96658,BAG58711,BAH14213,CAC21656,AAH20567,AAP36075,AAC97383,CAA33634,Q5VY93,Q92974,CAL38183,ABM82415,ABM85604,EAW53017 Hs.516790 DKFZp547L106|DKFZp547P1516|FLJ45440|GEF|GEF-H1|GEFH1|KIAA0651|LFP40|P40 OTTHUMP00000018855|Rho/Rac guanine nucleotide exchange factor 2|guanine nucleotide exchange factor H1|microtubule-regulated Rho-GEF|proliferating cell nucleolar antigen p40|rho guanine nucleotide exchange factor 2 protein-coding 1321712 ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 11256614,11756498,12376548,12787561,19727905,19820697,19911011,20379614,10873612,19427924,19110211,18499081,16381901,16344560,15489336,15489334,14702039,12477932,12221096,11230166,11076863,9373149,8125298 50650 AC097358,AC099327,NM_019555,NM_001128615,NM_001128616,AC099559,AC099781,AX002254,CH471055,AB209661,AF249744,AF433662,AK024340,AK225688,AK291412,AK293864,AK300045,AK302493,AK308178,AL136832,BC022249,BC054345,BC068513,BC094748,BC098122,BC098272,BC099715,BC104723,CR594043,DA401228,DC334437,DC334772 NP_062455,NP_001122087,NP_001122088,EAW65325,EAW65326,BAD92898,AAF79954,AAP97313,BAB14891,BAF84101,BAH11616,BAH13198,BAH13724,CAB66766,AAH54345,AAH68513,AAH98122,AAH98272,AAH99715,AAI04724,Q9NR81,CAL37874 Hs.476402 DKFZp434F2429|FLJ98126|GEF3|MGC118905|STA3|XPLN 59.8 kDA protein|OTTHUMP00000213603|OTTHUMP00000213612|RhoGEF protein|exchange factor found in platelets and leukemic and neuronal tissues, XPLN|rho guanine nucleotide exchange factor 3 protein-coding 3516342 ARHGEF33 Rho guanine nucleotide exchange factor (GEF) 33 14702039,15815621 100271715 AC018693,AC019171,AK123375,AW468668,BX116314,DV080125,DV080126,DV080278,DV080660,DY654603,DY654636,NM_001145451 A8MVX0,NP_001138923 Hs.99841 FLJ41381 DH and coiled-coil domain-containing protein ENSP00000381780|OTTHUMP00000204068|rho guanine nucleotide exchange factor 33 protein-coding 1312054 ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. This protein is similar to rat collybistin protein. Alternative splicing of this gene generates two transcript variants which encode different isoforms. Also there is possibility for the usage of multiple polyadenylation sites for this gene. [provided by RefSeq] 1580863 20936779,10947987,18653540,17002498,12598901,12477932,12168954,10873612,10470851,15572129,11756498,12376548,12787561,17588722,19525225,19628279 50649 NM_032995,NM_015320,AC009477,AC112786,CH471250,AB029035,AB042199,AF249745,AL137289,BC036579,BC139742,DQ424905 NP_127462,NP_056135,AAX93134,AAY24311,EAW51269,EAW51270,EAW51271,BAA83064,BAB11941,AAF79955,CAB70681,AAI39743,ABD83670,Q1ZYL3,Q53QF2,Q53TH6,Q9NR80,Q9NTG0,AAI60189 Hs.469935 ASEF|ASEF1|GEF4|STM6 APC-stimulated guanine nucleotide exchange factor|OTTHUMP00000203960|rho guanine nucleotide exchange factor 4 protein-coding 735723 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq] 1580863 8134109,12006984,18444243,15951569,15681748,15489334,14702039,12853948,12477932,12107413,7656213,15778465,19913121,20628086,19713215,9314836 7984 NM_005435,AACC02000041,AC004534,CH471146,AK090570,AK123596,AK160365,BC010046,BC011839,BC014555,BC136661,BF209445,BG831953,BI256663,BX649178,CD674013,CR749203,U02082 EAL24413,AAC12958,EAW80095,EAW80096,BAG52188,BAD18708,AAH10046,AAH11839,AAH14555,AAI36662,CAH18061,AAA18010,Q12774,Q32Q31,Q68E09,ABM84438,ABM87484,NP_005426 Hs.334,Hs.534621 DKFZp686N1969|GEF5|P60|TIM|TIM1 OTTHUMP00000212569|OTTHUMP00000212570|guanine nucleotide regulatory protein TIM|oncogene TIM|p60 TIM|rho guanine nucleotide exchange factor 5|transforming immortalized mammary oncogene protein-coding 1604887 ARHGEF5L Rho guanine nucleotide exchange factor (GEF) 5-like 12477932,16344560 445328 NM_001003702,AC004889,AK125680,BC136868,BC136878,EF560743,DA646728 NP_001003702,BAC86243,AAI36869,AAI36879,ABQ59053,A5YM69 Hs.334,Hs.534621 ARHGEF5L|CTAGE4|FLJ43692 ARHGEF5-like|Rho guanine nucleotide exchange factor (GEF) 5-like|rho guanine nucleotide exchange factor 35|rho guanine nucleotide exchange factor 5-like protein protein-coding 1343816 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq] 1580863,1599214 9582122,11017088,11564864,18029348,17405911,17081983,16964243,16897755,16320026,16094384,15772651,15761153,15649357,15611136,15489334,15324660,15302935,15242552,15144186,12935897,12499396,12477932,11937491,11337747,10896954,10523848,9783701,9659915,7584048,7584028,7584026,10559302,10428811,12006652,11756498,12376548,12787561,15688026,16374509,16983070,19672789,19911011,19918261,19969308 1599214 9459 NM_004840,NG_008873,AL135783,AL683813,CH471150,AF207831,AK129909,AK291742,AK295709,AK299861,BC033768,BC039856,BC043505,BE243825,BX537390,D13631,D25304,AK294929 NP_004831,CAI42899,CAI42903,CAI39443,EAW88460,EAW88461,AAG27169,BAF84431,BAH11929,BAH12163,BAH13153,AAH33768,AAH39856,AAH43505,CAD97632,BAA02796,BAA04985,Q15052,Q8N4Q3 Hs.522795 COOL2|Cool-2|KIAA0006|MRX46|PIXA|alpha-PIX|alphaPIX OTTHUMP00000024135|OTTHUMP00000024136|PAK-interacting exchange factor alpha|PAK-interacting exchange factor, alpha|Rac/Cdc42 guanine exchange factor (GEF) 6|mental retardation, X-linked 46|rac/Cdc42 guanine nucleotide exchange factor 6|rho guanine nucleotide exchange factor 6 protein-coding 736143 ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 20936779,10428811,10330411,9726964,9659915,9207241,8889548,8590280,8076819,16356860,12473661,16169070,14505571,16407834,18029348,19303398,18684957,18445079,18385518,18325335,18160719,17562871,17219408,17081983,16983070,16492808,16344560,16329988,15864311,15761153,15649357,15491607,15489334,15324660,15212761,15144186,14702039,14559906,14557270,12935897,12888526,12888525,12626503,12499396,12477932,12226077,12006652,11864573,11157752,10896954,11756498,12376548,12787561,15182672,15975580,16101281,16374509,16628223,19041750,19118189,19414484,19448619,19923322,20080968,20395446,21102462 8874 NM_001113511,NM_145735,NM_001113512,NM_003899,AL353704,AL390754,CH471085,AA457036,AB075521,AB177848,AB177849,AJ844629,AJ844631,AK055476,AK093326,AK095058,AK295472,AK300157,AK300272,AK308897,AL834228,BC033905,BC050521,BC060776,BM677392,BX648314,CF121796,CF144155,CR615661,CR618781,D17055,D63476,DA216264,DB104833,DB180957,AL139086,NM_001113513 NP_001106983,NP_663788,NP_001106984,CAI14670,CAI14671,CAI14672,CAM20788,CAI12460,CAI12461,CAI12462,CAI12463,CAM13628,EAX09142,EAX09143,EAX09144,EAX09145,EAX09146,EAX09147,EAX09148,EAX09149,BAE45764,BAD66826,BAD66827,CAH59748,CAH59949,BAH12080,BAH13225,BAH13248,CAD38906,AAH33905,AAH50521,AAH60776,BAA09763,Q14155,Q5W9H1,Q5ZEZ2,Q5ZEZ3,ACE87647,ACE86956,ACE87830,NP_003890,NP_001106985,ACT64348 Hs.508738 BETA-PIX|COOL-1|COOL1|DKFZp686C12170|DKFZp761K1021|KIAA0142|KIAA0412|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB OTTHUMP00000018718|OTTHUMP00000215156|OTTHUMP00000215158|PAK-interacting exchange factor beta|SH3 domain-containing proline-rich protein|guanine nucleotide exchange factor 7|pak-interacting exchange factor beta|rho guanine nucleotide exchange factor 7 protein-coding 1348513 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 ARHGEF9 belongs to a family of Rho-like GTPases that act as molecular switches by cycling from the active GTP-bound state to the inactive GDP-bound state. These proteins are key regulators of the actin cytoskeleton and are involved in cell signaling.[supplied by OMIM] 11756498,12376548,12787561,16344560,19911011,20936779,18208356,15772651,15489334,15342556,15215304,12477932,11727829,10607391,10559246,9455477,20622020 23229 DB227223,NG_016975,NM_001173479,NM_001173480,NM_015185,AL355142,AL391277,AL451106,CH471132,AB007884,AK289993,AK294721,AK295033,AK295178,AL832116,BC018106,BC043497,BC046138,BC056892,BC117406,BP270451,CR592615 NP_001166950,NP_001166951,ADR83209,NP_056000,CAI41195,CAI41196,CAI41197,CAI40401,CAI40402,CAI40403,CAI39550,CAI39552,EAX05416,EAX05417,EAX05418,BAA24854,BAF82682,BAG57869,BAG58088,BAG58186,AAI17407,O43307 Hs.54697 COLLYBISTIN|HPEM-2|KIAA0424|PEM-2|PEM2 OTTHUMP00000023425|OTTHUMP00000023427|PEM-2 homolog|hPEM-2 collybistin|rac/Cdc42 guanine nucleotide exchange factor 9|rho guanine nucleotide exchange factor 9 protein-coding 1321437 ARID1A AT rich interactive domain 1A (SWI-like) This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11784859,11018012,9845365,19279220,20826764,16940996,20086098,20942669,15640446,10757798,12200431,15170388,9584200,11078522,18029348,19486893,17492758,17255939,17081983,16710414,16230384,15382044,14722072,14702039,12837248,12672490,12665591,12477932,11988099,11780067,11734557,11318604,11159203,11073988,9630625,9434167,9373149,8895581,8804307,8125298 8289 NM_139135,AB024075,AL034380,AL512408,CH471059,AB001895,AB210022,AF217506,AF219114,AF231056,AF265208,AF268913,AF521670,AK027442,AK027467,AK027655,AK074940,AK223275,AK308363,BC112895,NM_006015 NP_006006,NP_624361,BAA83073,CAI21621,CAI21622,CAI21623,CAI21629,CAI23482,CAI23483,CAI23484,EAX07793,EAX07794,EAX07795,EAX07796,EAX07797,BAA23269,BAE06104,AAF67617,AAG17549,AAG33967,AAF75765,AAK54505,AAN03446,BAB55114,BAB55132,BAB55270,BAC11306,BAD96995,AAI12896,O14497,Q4LE49,Q5JYH3,Q8NC65,Q96SM7,Q96SY8,Q96T01,Q96TA9,Q9NZ92 Hs.468972 B120|BAF250|BAF250a|BM029|C1orf4|P270|SMARCF1 ARID domain-containing protein 1A|AT rich interactive domain 1A (SWI- like)|AT-rich interactive domain-containing protein 1A|BRG1-associated factor 250|BRG1-associated factor 250a|OSA1 nuclear protein|OTTHUMP00000004118|OTTHUMP00000004119|SWI-like protein|SWI/SNF complex protein p270|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1|SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1|at rich interactive domain 1a (swi- like)|brain protein 120|chromatin remodeling factor p250|hELD|hOSA1|osa homolog 1 protein-coding 1316702 ARID1B AT rich interactive domain 1B (SWI1-like) 1302474 20602751,15170388,12200431,11734557,17255939,16952470,20978832,15231748,14982958,14702039,14633620,14574404,12672490,12665591,12477932,11988099,11078522,10574462,10078207,9804814,8896557,8889548,19279220,19336002,18029348,19176441,20379614 1302474 57492 AF521671,AK000921,AK025945,AK074180,AK302356,BC009543,CB240584,Y08266,AF468300,NM_017519,AJ001216,AL049820,AL136091,AL162578,AL355297,AL591545,CH471051,AB033061,NM_020732,AF253515,AF259792,BU733862 AAL76077,AAN03447,BAA91426,BAB85006,BAG63682,CAA69592,Q5JRD2,Q5JU45,Q5JU46,Q8NFD5,Q8TEE4,Q9NWF5,NP_065783,NP_059989,CAI42304,CAI42305,CAI42306,CAI42308,CAI42309,CAI40011,CAI40012,CAI40014,CAH71534,CAI40663,CAI40664,CAI40666,CAI40667,EAW47678,EAW47679,EAW47680,EAW47681,EAW47682,EAW47683,EAW47684,EAW47685,BAA86549,AAN70985,AAG36928 Hs.291587,Hs.727578 6A3-5|BAF250B|BAF250b|BRIGHT|DAN15|ELD/OSA1|KIAA1235|OSA2|P250R|RP11-419L10.1|p250R ARID domain-containing protein 1B|AT-rich interactive domain-containing protein 1B|BRG1-associated factor 250b|BRG1-binding protein ELD/OSA1|ELD (eyelid)/OSA protein|OTTHUMP00000017479|OTTHUMP00000223605 protein-coding 1322383 ARID2 AT rich interactive domain 2 (ARID, RFX-like) ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM] 15985610,16782067,16303743,15922553,15640446,15489334,15159402,15146197,15060132,14702039,12672490,12477932,10997877,19279220,20936779,17643375,19668339 196528 NM_152641,AC008124,AC009464,AC009777,CH471111,AB046777,AK027617,AK027718,AK055181,AK075385,AK127872,AL832200,AY727870,BC018661,BC038726,BC064625,BC090062,BX537879,BX648152,BX649133,CN419675,CR749833,DQ096628 NP_689854,EAW57888,EAW57889,EAW57890,EAW57891,BAB13383,BAB55236,BAB55320,BAC11585,BAC87171,CAD91164,AAU20329,AAH18661,AAH38726,AAH90062,CAD97878,CAH18689,AAZ74794,Q4G0S8,Q68CP9,Q8NBP1,Q8WV72,Q96SQ4,AAI56212,AAI72461 Hs.317304 BAF200|DKFZp686G052|DKFZp779P0222|FLJ30619|KIAA1557|p200 ARID domain-containing protein 2|AT-rich interactive domain-containing protein 2|BRG1-associated factor 200|OTTHUMP00000197510|zinc finger protein with activation potential|zipzap|zipzap/p200 protein-coding 1313245 ARID3A AT rich interactive domain 3A (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq] 1580863 12477932,12193717,12136662,11812999,10838570,9780002,9722953,18029348,19214191,18583319,17386101,17081983,16738337,15203319,15057824,15017387,12692263,20455271,20680960,20379614,20548946 1820 NM_005224,AC005379,AC005391,AF039844,AF039850,CH471139,AY152547,AY845638,BC007077,BC033163,BC060828,CR598405,U88047 NP_005215,AAC28499,AAC28918,AAC69994,EAW69580,AAN74028,AAW30734,AAH33163,AAH60828,AAC32888,Q99856,ABZ92420 Hs.501296 BRIGHT|DRIL1|DRIL3|E2FBP1 ARID domain-containing 3A|ARID domain-containing protein 3A|AT rich interactive domain 3A (BRIGHT- like) protein|AT-rich interactive domain-containing protein 3A|B-cell regulator of IgH transcription|E2F-binding protein 1|at rich interactive domain 3a (bright- like)|dead ringer-like 1|dead ringer-like protein 1 protein-coding 1314897 ARID3B AT rich interactive domain 3B (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq] 10838570,10446990,12477932,17643375,19430483,19881956,20379614 10620 NM_006465,AC100835,CH471136,AB208830,AF116846,AK298716,AK302034,AL137417,BC041792,BC045545,BC060824,CR621500,DB455943 NP_006456,EAW99327,EAW99328,BAD92067,AAD09133,BAG60872,BAG63430,AAH41792,Q8IVW6 Hs.655532 BDP|DRIL2 ARID domain-containing protein 3B|AT rich interactive domain 3B (BRIGHT- like)|AT-rich interactive domain-containing protein 3B|at rich interactive domain 3b (bright- like)|bright and dead ringer protein|bright-like protein protein-coding 1342507 ARID3C AT rich interactive domain 3C (BRIGHT-like) This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq] 11959810,10838570 138715 NM_001017363,AL450283,CH471071 NP_001017363,EAW58438,A6NKF2,AAI48444 Hs.534549 ARID domain-containing protein 3C|AT-rich interactive domain-containing protein 3C|at rich interactive domain 3c (bright- like) protein-coding 1316636 ARID4A AT rich interactive domain 4A (RBP1-like) The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq] 1580863 12724404,1857421,8414517,11283269,18211900,16873370,16344560,15302935,14581478,12477932,10490602,10369074,10321733,9660940,8455946,15640446,16387653 5926 NM_002892,NM_023000,NM_023001,AL132989,AL139021,CH471061,AF086075,AK307520,AK307972,BC026230,BX279740,DB218466,S57153,S57160,S57162,S66427 NP_002883,NP_075376,NP_075377,EAW80727,EAW80728,EAW80729,EAW80730,EAW80731,EAW80732,AAH26230,AAB25833,AAB25834,AAB25835,AAB28543,P29374,Q05CG0,AAI72363 Hs.161000 RBBP-1|RBBP1|RBP-1|RBP1 ARID domain-containing protein 4A|AT-rich interactive domain-containing protein 4A|OTTHUMP00000179024|retinoblastoma binding protein 1|retinoblastoma-binding protein 1 protein-coding 1604359 ARID4B AT rich interactive domain 4B (RBP1-like) This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq] 16387653,20347265,20379614,20936779,17081983,16710414,15489334,15302935,15247124,14702039,12724404,12477932,12446740,11790298,11481388,10737800 51742 NM_016374,AL133418,AL356781,AL391994,CH471098,AB210032,AF083249,AF208045,AF214114,AF227899,AI356277,AK023144,AK057552,AL133594,AY220790,BC017800,BC048959,BC062536,NM_031371,BC104632,BC130418,BC143719,BF899710,BX648820,CR597032,CR622969 NP_112739,NP_057458,CAI22961,CAI22962,CAQ07269,CAI13747,CAI13749,CAI13751,EAW70008,EAW70009,EAW70010,EAW70011,EAW70012,EAW70013,EAW70014,EAW70015,BAE06114,AAD41239,AAF23433,AAF28341,AAF36964,BAB14428,CAB63731,AAO63590,AAH17800,AAH48959,AAH62536,AAI04633,AAI30419,CAI46047,Q4LE39 Hs.533633,Hs.575782 BCAA|BRCAA1|DKFZp313M2420|MGC163290|RBBP1L1|RBP1L1|SAP180 180 kDa Sin3-associated polypeptide|ARID domain-containing protein 4B|AT-rich interactive domain-containing protein 4B|OTTHUMP00000037599|OTTHUMP00000037601|OTTHUMP00000197527|RBP1-like protein|Rb-binding protein homolog|SIN3A-associated protein 180|breast cancer-associated antigen 1|breast cancer-associated antigen BRCAA1|breast carcinoma-associated antigen|histone deacetylase complex subunit SAP180|retinoblastoma binding protein 1-like 1|retinoblastoma-binding protein 1-like 1|sin3-associated polypeptide p180 protein-coding 1322287 ARID5A AT rich interactive domain 5A (MRF1-like) Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM] 15640446,18029348,16713569,12477932,8889548,8649988,12975309,21046636 10865 AC013270,CH471207,AK300173,AK304566,AK307768,BC032488,BC047390,BC067301,BQ073595,BU734273,NM_212481,BX648918,M62324,AY358167 NP_997646,EAW71359,EAW71360,EAW71361,EAW71362,EAW71363,EAW71364,EAW71365,EAW71366,BAG61953,BAH14217,AAA36325,Q03989,AAI67773,AAQ88534,Q6UXX8 Hs.920 MRF-1|MRF1|RP11-363D14 ARID domain-containing protein 5A|AT-rich interactive domain-containing protein 5A|OTTHUMP00000207483|RFVG5814|modulator recognition factor 1|modulator recognition factor I protein-coding 1323345 ARID5B AT rich interactive domain 5B (MRF1-like) 18612189,17081983,15640446,15489334,15164054,14702039,12477932,11483573,11478881,10329386,9808040,16344560,19430483,19684603,19684604,20042726,20054350,20460642 84159 AC067742,AL671972,AL731669,CH471083,AK024803,AK296921,BC015120,BC036831,BC056680,BC066345,BC107800,BG615173,BX537690,NM_032199,BX641020,BX648835,CR596682,M73837,AI149153,AL049471,DB014195 NP_115575,CAH72685,CAH72686,EAW54226,EAW54227,EAW54228,BAB15012,BAG59475,AAH15120,AAH36831,AAH66345,AAI07801,CAD97814,CAE46013,AAA59870,Q05DG6,Q14865,Q32Q59,Q6NZ42,AAI52737,AAI56571 Hs.535297 DESRT|FLJ21150|MRF2|RP11-341A19.1 ARID domain-containing protein 5B|AT-rich interactive domain-containing protein 5B|MRF-2|MRF1-like protein|modulator recognition factor 2 (MRF2) protein-coding 1317726 ARIH1 ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) 1580863 10521492,15489334,15236971,14623119,12477932,11278816,11124703,11124525,10926929,10880484,12234920,19615732 25820 NM_005744,AC079322,AC100827,CH471082,CQ834334,AB014774,AB209432,AF072832,AJ009771,AJ130976,AJ243190,AK000336,AK312715,AL117650,BC051877,BX641117 NP_005735,EAW77907,EAW77908,CAH05382,BAB19786,BAD92669,AAD28088,CAA08817,CAA10274,CAB45870,BAG35590,AAH51877,Q59FM8,Q9Y4X5 Hs.268787 ARI|DKFZp686O13120|FLJ20329|FLJ93118|HARI|HHARI|UBCH7BP ARI-1|H7-AP2|MOP-6|ariadne, Drosophila, homolog of|monocyte protein 6|protein ariadne-1 homolog|ubcH7-binding protein|ubcM4-interacting protein|ubiquitin-conjugating enzyme E2-binding protein 1 protein-coding 1314113 ARIH2 ariadne homolog 2 (Drosophila) 1580863 10422847,17646546,16189514,16169070,16118314,15489334,15146197,14702039,12477932,10931946,10880484,9373149,8125298,12234920,19549727,19340006 10425 NM_006321,AC134028,AC137630,CH471055,AB208857,AF099149,AF099150,AF099151,AF099152,AF099153,AF113677,AF183427,AJ130978,AK001800,AK091240,AK223550,AK307694,AK313434,AL110187,AL162034,BC000422,CN399800,CR456785 NP_006312,EAW64930,EAW64931,EAW64932,EAW64933,BAD92094,AAC82469,AAG09696,CAA10276,BAG50977,BAD97270,BAG36225,AAH00422,CAG33066,O95376,Q53ET9,Q59HA2,Q6IBL8,ABM85944 Hs.633601 ARI2|FLJ10938|FLJ33921|TRIAD1 ARI-2|E3 ubiquitin-protein ligase ARIH2|OTTHUMP00000210388|all-trans retinoic acid inducible RING finger|protein ariadne-2 homolog protein-coding 2289744 ARIH2P ariadne homolog 2 pseudogene 390844 NG_009482,AC027141 ARIH2P pseudo 732961 ARL1 ADP-ribosylation factor-like 1 The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. [provided by RefSeq] 1580863 11230166,11076863,10318838,7814376,15269279,14702039,12972563,12477932,11303027,11256614,9624189,17353931,17127620,16381901,15489336,15489334,19224922,19703403 400 NM_001177,AC063948,CH471054,AF493887,AK001489,AK299062,AK301701,AK302911,AK311793,AL701988,BC007000,BT007260,BX537387,CD686919,CR595963,CR596544,CR596591,CR599734,CR608773,CR625350,L28997,CK822904 NP_001168,EAW97657,EAW97658,EAW97659,EAW97660,AAM12601,BAG61128,BAG63173,BAG64079,BAG34736,AAH07000,AAP35924,CAD97629,AAC37567,P40616,CAL38716,ABM83974,ABM87294 Hs.372616 ARFL1 ADP-ribosylation factor-like protein 1 protein-coding 1344087 ARL10 ADP-ribosylation factor-like 10 1580863 15033445,14702039,12477932 285598 NM_173664,AC138956,CH471195,BC059361,DR001833 NP_775935,EAW85086,AAH59361,Q6PCE2,Q8N8L6 Hs.424552 ARL10A|FLJ39249 ADP-ribosylation factor-like 10A|ADP-ribosylation factor-like membrane-associated protein|ADP-ribosylation factor-like protein 10|adp-ribosylation factor-like 10a protein-coding 1317649 ARL11 ADP-ribosylation factor-like 11 737633,1580863 18337727,17699778,17449901,17391501,16646072,16581122,16570116,16488076,16353159,16189514,15843669,15489334,15057823,14702039,12477932,18375053,19060904,19509554,20067102,20358297 737633 115761 NM_138450,AL135901,CH471075,AF441378,AK091249,BC013150,CR600646,NG_021342 NP_612459,CAI40715,EAX08831,AAP19650,BAC03621,AAH13150,Q969Q4 Hs.558599 ARLTS1|FLJ33930|MGC17429 ADP-ribosylation factor-like protein 11|ADP-ribosylation factor-like tumor suppressor protein 1 protein-coding 1343034 ARL13A ADP-ribosylation factor-like 13A 12477932 392509 NM_001012990,CH471115,Z97985,AK301813,AW118931,BC140808,BC144603,CD300373,DB727708,DY655154,DC426731,NM_001162490,NM_001162491 NP_001013008,EAX02829,CAI42661,BAG63262,AAI40809,AAI44604,Q5H913,NP_001155962,NP_001155963 Hs.147237 ARL13|dJ341D10.2 ADP-ribosylation factor-like 13|ADP-ribosylation factor-like protein 13A|OTTHUMP00000023662 protein-coding 1349356 ARL13B ADP-ribosylation factor-like 13B 18674751,18554500,15489334,15314642,12477932,20231383,21068128 200894 NM_182896,NM_144996,AC130896,CH471052,AK296994,AK299284,AL713789,BC015439,BC031093,BC062993,BC094725,BC104033,BC104034,BC104035,AC117474,BC104036,BI821381,CR936753,CR936756,CR936763,AA775026,BC073842,NG_017076,NM_001174150,NM_001174151,NR_033427 NP_659433,AAI04036,NP_878899,EAW79897,EAW79898,EAW79899,EAW79900,EAW79901,BAG59533,BAG61300,CAD28544,AAH94725,AAI04037,Q3SXY8,Q8TCL5,ACE87498,ACE86811,ACE87851,ACT64375,NP_001167621,NP_001167622 Hs.533086 ARL2L1|DKFZp686E2075|DKFZp686L2472|DKFZp686M2074|DKFZp761H079|JBTS8|MGC120611|MGC120612 ADP-ribosylation factor-like 2-like 1|ADP-ribosylation factor-like protein 13B|ARL2-like protein 1|adp-ribosylation factor-like 2-like 1 protein-coding 1349632 ARL14 ADP-ribosylation factor-like 14 16341674,15761153,15489334,15367757,14702039,12477932,19458352 80117 NM_025047,AC069224,CH471052,AK026248,BC034354,BM760777 NP_079323,EAW78629,BAB15411,AAH34354,Q8N4G2 Hs.287702 ARF7|FLJ22595 ADP-ribosylation factor 7|ADP-ribosylation factor-like protein 14|adp-ribosylation factor 7 protein-coding 1323226 ARL15 ADP-ribosylation factor-like 15 737633 16169070,15489334,14702039,12477932,20011104,20379614,17207965,20950786 737633 54622 NM_019087,AC008873,AC008935,AC016601,AC024571,AC025175,AC034246,CH471123,AK000058,AK290886,AK311482,BC026093,CR457225 NP_061960,EAW54889,EAW54890,EAW54891,BAA90915,BAF83575,AAH26093,CAG33506,Q9NXU5,ADQ32165 Hs.659125 ARFRP2|FLJ20051 ADP-ribosylation factor related protein 2|ADP-ribosylation factor-like protein 15|ADP-ribosylation factor-related protein 2|ARF-related protein 2 protein-coding 1601700 ARL16 ADP-ribosylation factor-like 16 12477932,15489334,14702039 339231 NM_001040025,AC139530,AK095847,AK303526,AK304718,BC029633,BC042380,BC063687,BC105076,BC105078,CR598237,CR615218,CR616295 NP_001035114,BAG64554,BAG65482,AAI05077,AAI05079,Q0P5N6,ADR82863 Hs.658789 ADP-ribosylation factor-like protein 16 protein-coding 1605146 ARL17 ADP-ribosylation factor-like 17 15489334,12477932 641522 BX537922,NM_001103154,NM_001039083,AC005829,AC139026,CH878255,AF493886,AK289590,AK315857,BC000924,BC020869,BC030570,BC071681,AB209344,AC138688,AC217777,AF208864,BC041803,BX647266,CR620290 NP_001096624,NP_001034172,EAW50328,AAM12600,BAF82279,BAF98748,AAH00924,AAH30570,Q8IVW1,AAF64278,AAH41803,BAD92581 Hs.559259,Hs.720602 ARL17|ARL17A|ARL17B ADP-ribosylation factor 7|ADP-ribosylation factor-like 17|ADP-ribosylation factor-like protein 17 protein-coding 1602487 ARL17P1 ADP-ribosylation factor-like 17 pseudogene 1 15489334,12477932 51326 BX537922,NM_016632,NM_001113738,AC138645,AB209344,AF208864,BC041803,BX647266,CR620290,AF493886,AK289590,AK315857,BC000924,BC020869,BC030570,BC071681 NP_057716,NP_001107210,BAD92581,AAF64278,AAH41803,AAH00924,AAH30570,AAM12600,BAF82279,BAF98748 Hs.559259,Hs.720602 ARF1P2|ARL17A|ARL17P1 ADP-ribosylation factor 1 pseudogene 2|ADP-ribosylation factor 7|ADP-ribosylation factor-like 17 pseudogene 1|ADP-ribosylation factor-like 17-like protein-coding 735885 ARL2 ADP-ribosylation factor-like 2 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq] 1580863 10831612,18818514,18588884,17704193,17188265,16525022,15489334,12912990,12527357,12477932,12015966,11980706,11809823,9373149,9253601,8415637,8125298,16189514,19368893,20740604,18234692,15146197 402 NM_001667,AP000436,CH471076,AF493888,AI076058,AK223502,AK294580,BC002530,BG706294,BT006674,L13687,AI631767,CN338497,NM_001199745 NP_001658,EAW74332,AAM12602,BAD97222,BAG57771,AAH02530,AAP35320,AAC37606,P36404,Q53YD8,ACE87762,ACE87082,EAW74333,NP_001186674 Hs.502836 ARFL2 ADP-ribosylation factor-like protein 2 protein-coding 1344137 ARL2BP ADP-ribosylation factor-like 2 binding protein ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq] 1580863 10488091,19368893,18981177,12477932,11809823,11303027,20936779,16525022,18234692,11847227 23568 AC009090,CH471092,CQ783045,AF126062,AK075050,AK298758,AK311018,BC003087,BC094878,BF590083,CR597343,CR605296,NM_012106 NP_036238,EAW82913,EAW82914,CAF86252,AAD20633,BAG52057,BAG60900,AAH03087,AAH94878,Q9Y2Y0 Hs.726032,Hs.632873 BART|BART1 ADP-ribosylation factor-like protein 2-binding protein|ARF-like 2-binding protein|Arf-like 2 binding protein BART1|binder of ARF2 protein 1|binder of Arl Two|binder of Arl2 protein-coding 1346532 ARL2BPL ADP-ribosylation factor-like 2 binding protein-like 399667 1349460 ARL2BPP1 ADP-ribosylation factor-like 2 binding protein pseudogene 1 399666 4891571 ARL2BPP3 ADP-ribosylation factor-like 2 binding protein pseudogene 3 646879 AL159973,CH471075,NG_022943 A8MYR8,EAX08569 pseudo 4891560 ARL2BPP4 ADP-ribosylation factor-like 2 binding protein pseudogene 4 17903298 100130265 AADB02009472,ABBA01068841,AC005741 pseudo 4891557 ARL2BPP7 ADP-ribosylation factor-like 2 binding protein pseudogene 7 19247474 100131629 AADB02012680,ABBA01042868,AL596454 pseudo 4891556 ARL2BPP8 ADP-ribosylation factor-like 2 binding protein pseudogene 8 100131784 AADB02018551,ABBA01041283,AC005951 pseudo 4891555 ARL2BPP9 ADP-ribosylation factor-like 2 binding protein pseudogene 9 100421675 AC124283,NG_026204 pseudo 734227 ARL3 ADP-ribosylation factor-like 3 ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq] 68742,1580863 8889548,8034651,18588884,16525022,16472755,16169070,15489334,12477932,12417528,12107411,11980706,11847227,11303027,11188688,10518933,10072593,9110174,8619474,7566098,16385451,20106869 68742 403 BM661686,NM_004311,AL391121,CH471066,AA325516,AF038193,AF493889,AK312525,AW269939,BC008032,BC009841,BC025759,BE780186,BQ638232,CD245572,CR407637,U07151 NP_004302,CAI40862,EAW49678,AAM12603,BAG35424,AAH09841,CAG28565,AAA21654,P36405,ABM84157,ABM87559 Hs.182215 ARFL3 ADP-ribosylation factor-like protein 3|ARF-like 3|adp-ribosylation-like 3 protein-coding 1604399 ARL4A ADP-ribosylation factor-like 4A ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 10980193,18240926,17398095,15489334,12690205,12477932,10756096,10462049,7829101 10124 NM_001037164,NM_212460,NM_005738,AC011891,CH236948,CH471073,AF493890,AK313233,AW022162,AW079064,BC001111,BC003027,BC039123,BI828864,BM550177,BQ948724,BU786406,CD049640,CR598643,CR614654,U73960,AU076407,DB451189,DB472672,NM_001195396 NP_001032241,NP_997625,NP_005729,EAL24295,EAW93650,EAW93651,EAW93652,AAM12604,BAG36044,AAH01111,AAH03027,AAB39713,P40617,NP_001182325 Hs.245540 ARL4 ADP-ribosylation factor-like 4|ADP-ribosylation factor-like protein 4A|OTTHUMP00000155200|OTTHUMP00000201576|OTTHUMP00000201577 protein-coding 1345856 ARL4C ADP-ribosylation factor-like 4C ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq] 1580863 10462049,17398095,16713569,15489334,15147902,12477932,18029348,20686608,19409876 10123 NM_005737,AC097713,AC105145,CH471063,AB016811,AF493892,AJ579850,AJ579851,AK314119,BC001051,BC089043,BM541491,BM904613,BT019378,BT019379,BU844902,CA413100,CD358707,CR623190,Y17804,HI179044 NP_005728,AAX93114,EAW71073,EAW71074,BAA75473,AAM12606,CAE30322,CAE30323,BAG36810,AAH89043,AAV38185,AAV38186,CAB44355,P56559,Q4A519,ACE87519,ACE86833,CBX53831 Hs.727031,Hs.111554 ARL7|LAK ADP ribosylation factor-like protein 7|ADP-ribosylation factor-like 7|ADP-ribosylation factor-like protein 4C|ADP-ribosylation factor-like protein 7|ADP-ribosylation factor-like protein LAK|adp-ribosylation factor-like 7 protein-coding 1315741 ARL4D ADP-ribosylation factor-like 4D ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq] 1580863 7590735,17398095,15489334,15314642,15258860,12477932,12472661,10508919,10462049,8889548,7581362,7545954,16169070,15761153 379 NM_001661,AC087650,CH471178,AB060692,AK314951,BC000043,BI547763,BM682844,BU729196,CR594484,CR597066,CR599185,CR601710,CR624413,L38490 NP_001652,EAW51681,EAW51682,BAB91080,BAG37456,AAH00043,AAA57126,P49703 Hs.183153,Hs.709866 ARF4L|ARL6 ADP-ribosylation factor 4-like|ADP-ribosylation factor-like 6|ADP-ribosylation factor-like protein 4D|ADP-ribosylation factor-like protein 4L protein-coding 1354501 ARL4P ADP-ribosylation factor-like 4 pseudogene 387684 NG_011408 ARL4B pseudo 1605276 ARL4P2 ADP-ribosylation factor-like 4 pseudogene 2 152709 NG_005394,AC131953 pseudo 1346010 ARL5A ADP-ribosylation factor-like 5A The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq] 1580863 15896705,15489334,12477932,12450215,12414990,10931946 26225 NM_012097,NM_001037174,NM_177985,AC097448,CH471058,AF087889,AF100740,AF493891,AK292714,AK298937,BC001254,BG707385,BM800611,BQ216648,BT009829,BX461356,CR599449,CR607542,CR607846,CR612228,CR613929,CX867116 NP_036229,NP_001032251,NP_817114,AAX82013,EAX11495,EAX11496,EAX11497,AAP97188,AAD40383,AAM12605,BAF85403,BAG61039,AAH01254,AAP88831,Q580I5,Q9Y689,ABM82119,ABM85302 Hs.470233 ARFLP5|ARL5 ADP-ribosylation factor-like 5|ADP-ribosylation factor-like protein 5|ADP-ribosylation factor-like protein 5A|OTTHUMP00000207221|adp-ribosylation factor-like 5 protein-coding 1313675 ARL5B ADP-ribosylation factor-like 5B ARL8 belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM] 737633,1580863 15761153,15489334,15146197,14702039,12853149,12477932,16385451,20932310 737633 221079 NM_178815,AL512641,CH471072,EF444954,AF494061,AK027275,AL700452,BC024163,CN301486 NP_848930,CAH70494,EAW86190,ACA05947,AAM74076,BAB55011,AAH24163,Q96KC2,ABM84092,ABM87463 Hs.25362 ARL8 ADP-ribosylation factor-like 8|ADP-ribosylation factor-like protein 5B|ADP-ribosylation factor-like protein 8|ADP-ribosylation-like factor 8|adp-ribosylation factor-like 8 protein-coding 1316723 ARL5C ADP-ribosylation factor-like 5C 16625196,11181995 390790 NM_001143968,AC004408,CH471152,AK310706 NP_001137440,EAW60555,A6NH57 Hs.568007 ARL12|FLJ17748 ADP-ribosylation factor-like 12|ADP-ribosylation factor-like protein 12|adp-ribosylation factor-like 12|putative ADP-ribosylation factor-like protein 5C protein-coding 1313618 ARL6 ADP-ribosylation factor-like 6 The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. ARF proteins are important regulators of cellular traffic and are the founding members of an expanding family of homologous proteins and genomic sequences. They depart from other small GTP-binding proteins by a unique structural device that implements front-back communication from the N-terminus to the nucleotide-binding site. Studies of the mouse ortholog of this protein suggest an involvement in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been described. [provided by RefSeq] 1578724,1578725,1580863 19236846,19077438,16381901,15489336,15489334,15314642,15258860,12477932,12429613,11230166,11076863,10508919,10462049,8889548,7987310,19478329,20142850,20207729,20333246,19913121,20628086,20801516 1578724,1578725 84100 NM_032146,NM_177976,NG_008119,AC110491,CH471052,AK292958,AK310829,AL136815,BC024239,BM705017,BU607306 NP_115522,NP_816931,EAW79880,EAW79881,EAW79882,EAW79883,EAW79884,BAF85647,CAB66749,AAH24239,Q9H0F7,CAL37540,CAL38233 Hs.373801 BBS3|MGC32934|RP55 ADP-ribosylation factor-like protein 6|OTTHUMP00000214308|OTTHUMP00000214309|OTTHUMP00000214310|bardet-Biedl syndrome 3 protein protein-coding 1345801 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 1580863 14702039,12754298,12477932,10995579,10508919,7584044,19019082,16169070,16189514,15489334,17207965,19060904,20372863 23204 NM_015161,AC138811,CH471186,AK291137,AK300825,AK300869,AK301636,AK307315,AK308092,AK308744,BC010281,BX648446,CR590895,CR601655,CR612657,CR617670,CR622050,CR626095,D31885 NP_055976,BAF83826,BAH13355,BAH13361,BAH13527,AAH10281,BAA06683,Q15041,ADQ32858,EAW50257,EAW50258 Hs.634882 AIP1|ARL6IP|ARMER|KIAA0069 ADP-ribosylation factor-like protein 6-interacting protein 1|ARL-6-interacting protein 1|aip-1|apoptotic regulator in the membrane of the endoplasmic reticulum protein-coding 1316976 ARL6IP4 ADP-ribosylation-like factor 6 interacting protein 4 1580863 20098747,10708573,14702039,12477932,11884129,10508919 51329 NM_001002251,NM_001002252,NM_016638,AC026362,CH471054,AB035384,AF267748,AK027285,AK315759,AW189362,BC001958,BC015569,NM_018694,BC015909,BC094839,CR599283,CR600790,CR607411,CR608335,CR612958,CR622052,CR622330,CR624619,CR625814,CR626482,DQ099385,EU624490,EU624491 NP_061164,NP_001002251,NP_001002252,NP_057722,EAW98373,EAW98374,EAW98375,EAW98376,EAW98377,EAW98378,EAW98379,EAW98380,EAW98381,EAW98382,BAA94744,AAF76892,BAG38112,AAH01958,AAH15569,AAH15909,AAH94839,AAZ13761,ACF07995,ACF07996,Q66PJ3,Q8TEM4 Hs.103561 MGC814|SFRS20|SR-25|SRp25|SRrp37 ADP-ribosylation factor-like protein 6-interacting protein 4|ARL-6-interacting protein 4|HSP-975|HSVI binding protein|HSVI-binding protein|SR-15|SRp25 nuclear protein|aip-4|splicing factor, arginine/serine-rich 20|splicing regulator SRrp38 protein-coding 1344465 ARL6IP5 ADP-ribosylation-like factor 6 interacting protein 5 Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq] 1299537,1580863 16638297,17479403,17479402,17479401,17336041,16922813,16640902,16481131,16468075,16430862,16331563,16303743,15864752,15757671,15489334,14761432,12761501,12665801,12562531,12477932,12438930,12119102,11242046,11042152,10508919,9373149,8125298,16766476,18684713,18167356,17646425,18029348,20201924 1299537 10550 NM_006407,AC092060,CH471055,AB014765,AB052638,AB097051,AF070523,AF115965,AF125530,AF161476,AK074612,AK223566,AK301637,AK312731,AY102608,BC005143,BC020797,BC107899,BG483337,BU149630,CR592627,CR593457,CR604182,CR606544,CR606607,CR609765,CR611485,CR615177 NP_006398,EAW65473,EAW65474,BAC66462,BAD83603,BAC77404,AAC64360,AAP97237,AAF17224,AAF29091,BAG51976,BAD97286,BAG63118,BAG35602,AAM28950,AAH05143,AAH20797,O75915 Hs.725534,Hs.518060 DERP11|GTRAP3-18|HSPC127|JWA|PRAF3|addicsin|hp22|jmx ADP-ribosylation factor-like protein 6-interacting protein 5|ARL-6-interacting protein 5|JM5|PRA1 domain family 3|PRA1 family protein 3|aip-5|cytoskeleton related vitamin A responsive protein|cytoskeleton-related vitamin A-responsive protein|dermal papilla derived protein 11|dermal papilla-derived protein 11|glutamate transporter EAAC1-interacting protein|glutamate transporter EEAC1-associated protein|prenylated Rab acceptor protein 2|protein JWa|putative MAPK activating protein PM27|putative MAPK-activating protein PM27 protein-coding 1347021 ARL6IP6 ADP-ribosylation-like factor 6 interacting protein 6 16344560,15342556,14702039,12477932,10508919,17207965 151188 NM_152522,NR_024526,AC079344,CH471058,CQ834436,CQ834476,AA654338,AF530059,AK023109,AK094696,AK315657,AW967583,BC028741,BC070140,BP200063,BP265220,CR600798,CR611032,DA012142 NP_689735,AAX93217,EAX11475,EAX11476,EAX11477,EAX11478,CAH05433,CAH05453,AAQ09943,BAG51157,BAG38023,AAH28741,AAH70140,Q8N6S5,ADQ31833 Hs.643580,Hs.516468 MGC33864|PFAAP1 ADP-ribosylation factor-like protein 6-interacting protein 6|ADP-ribosylation-like factor 6-interacting protein 6|ARL-6-interacting protein 6|aip-6|phosphonoformate immuno-associated protein 1|regulated by phosphonoformate protein-coding 1342975 ARL6IPP1 ADP-ribosylation factor-like 6 interacting protein pseudogene 1 378712 1348114 ARL8A ADP-ribosylation factor-like 8A 737633,69939,1580863 17207965,15331635,14871887,16710414,16537643,15489334,12477932,8889548 737633,69939 127829 NM_138795,AL592300,CH471067,AB118752,AK127138,AK313122,BC015408,BC053358,BC069053,BM548962,BM688638,BM999456,BU727024,BX421006,CR597275,CR624011 ADQ32803,NP_620150,CAI13107,EAW91395,EAW91396,EAW91397,EAW91398,EAW91399,BAD23993,BAG54442,BAG35942,AAH15408,Q96BM9 Hs.497399,Hs.604697 ARL10B|FLJ45195|GIE2 ADP-ribosylation factor-like 10B|ADP-ribosylation factor-like protein 10B|ADP-ribosylation factor-like protein 8A|adp-ribosylation factor-like 10b|novel small G protein indispensable for equal chromosome segregation 2|small G protein indispensable for equal chromosome segregation 2 protein-coding 1351870 ARL8B ADP-ribosylation factor-like 8B 737633,1580863 16169070,19398576,15331635,14871887,16650381,16537643,15761153,15489334,14702039,12477932 737633 55207 AK295465,AK298951,AK303872,BC013131,BC063125,CR457264,CR599429,CR602370,CR602466,CR606808,CR610251,CR615595,CR625965,NM_018184,AC021999,AC026202,CH471055,AB118751,AF086108,AK001564,AL110242 BAG58397,BAG61050,BAG64810,AAH13131,AAH63125,CAG33545,Q9NVJ2,NP_060654,EAW63919,EAW63920,EAW63921,EAW63922,BAD23992,BAA91759 Hs.250009,Hs.727501 ARL10C|FLJ10702|Gie1 ADP-ribosylation factor-like 10C|ADP-ribosylation factor-like protein 10C|ADP-ribosylation factor-like protein 8B|novel small G protein indispensable for equal chromosome segregation 1 protein-coding 1606161 ARL9 ADP-ribosylation factor-like 9 ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM] 15033445 132946 NM_206919,AC108215,AC114766,CH471057,AY439003 NP_996802,EAX05499,EAX05500,AAS07576,Q6T311,AAI41543,AAI48698 Hs.444449 ADP-ribosylation factor-like protein 9 protein-coding 1343337 ARMC1 armadillo repeat containing 1 1580863 15489334,14702039,12477932,17207965,20379614,20877624 55156 NM_018120,AC055822,AC100814,CH471068,AK001373,AK024053,AK304463,AL512767,BC011607,BC018846,CR625619 NP_060590,EAW86880,BAA91656,BAB14803,BAG65279,CAC21684,AAH11607,Q9NVT9,ADQ31864 Hs.269542 Arcp|FLJ10511 armadillo repeat-containing protein 1 protein-coding 1605608 ARMC10 armadillo repeat containing 10 20877624,16303743,15252450,14702039,12853948,12839973,12477932,9373149,8125298,20379614 83787 NM_031905,NM_001161009,NM_001161010,NM_001161011,NM_001161012,NM_001161013,AC007683,AC073127,AC108167,CH471070,CS051331,AF275808,AK075500,AK095169,AK225082,AK291818,AK301565,AY150851,AY150852,AY150853,AY150854,BC003586,CR591473,CR603265,CR613788,CR613957,CR618507,CR620954 NP_114111,NP_001154481,NP_001154482,NP_001154483,NP_001154484,NP_001154485,AAS07531,AAS07482,AAS07456,EAW83311,EAW83312,EAW83313,CAI72160,BAC11655,BAF84507,BAG63060,AAN72313,AAN72314,AAN72315,AAN72316,AAH03586,Q8N2F6 Hs.287412 FLJ37850|MGC3195|PNAS112|SVH OTTHUMP00000211685|armadillo repeat-containing protein 10|specific splicing variant involved in hepatocarcinogenesis|splicing variant involved in hepatocarcinogenesis protein protein-coding 1350350 ARMC2 armadillo repeat containing 2 1580863 16344560,18978678,16381901,15489336,14702039,12477932,11230166,11076863,20080650 84071 NM_032131,AL390208,AL445189,CH471051,AK095234,AK292499,AK294574,AL136754,AW195322,BC030603,DA196834 NP_115507,CAI16717,CAH71699,EAW48369,EAW48370,BAG53010,BAF85188,BAG57766,CAB66688,AAH30603,Q8NEN0,CAL37642,CAL38457 Hs.645481 DKFZp434P0714|RP11-787I22.1|bA787I22.1 armadillo repeat-containing protein 2 protein-coding 1312695 ARMC3 armadillo repeat containing 3 Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM] 16915934,16397042,14702039,12477932,16385451,20379614 219681 NM_173081,AC079269,AL139815,CH471072,AK057389,AK090961,AK098711,AK302104,AK302985,AY436643,BC039312,DB459427 NP_775104,CAH72188,CAH72189,CAX14862,EAW86137,EAW86138,EAW86139,BAB71463,BAC05389,BAG63485,BAG64125,AAR99738,AAH39312,Q5W041 Hs.659807 CT81|FLJ25845|FLJ32827|KU-CT-1|RP11-300B11.1 OTTHUMP00000019304|armadillo repeat-containing protein 3|beta-catenin-like protein|cancer/testis antigen 81 protein-coding 1315828 ARMC4 armadillo repeat containing 4 15164054,14702039,12477932,11230166,16385451,20877624 55130 AL355372,AL390866,CH471072,AK001238,AK001679,AK292521,AK301708,AK302048,AK302419,AK302627,AL136859,BC085611,BC140846,NM_018076 NP_060546,CAI16402,CAI12710,CAI12711,EAW86049,EAW86050,BAA91574,BAF85210,BAH13537,BAH13617,BAH13703,BAH13766,CAB66793,AAI40847,Q5T2S8,Q5T2S9,Q9NW14 Hs.127530 DKFZp434P1735|FLJ10376|FLJ10817|FLJ32798|RP11-691I13.1 armadillo repeat-containing protein 4 protein-coding 1315235 ARMC5 armadillo repeat containing 5 1580863 14702039,12477932,11214971 79798 AK297115,NM_024742,NM_001105247,AC026471,CH471192,AK023125,AK024430,AK294897,AK295790,AY217348,BC014945 BAG59622,NP_079018,NP_001098717,EAW52131,EAW52132,EAW52133,BAB14418,BAB15720,BAG57988,BAG58611,AAO45101,AAH14945,Q96C12 Hs.720682 FLJ00019|FLJ13063 armadillo repeat-containing protein 5 protein-coding 1348624 ARMC6 armadillo repeat containing 6 The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. [provided by RefSeq] 737633 17353931,15489334,15057824,12477932 737633 93436 AC003038,AC004447,CH471106,AK295488,AK303914,BC003700,BC056161,BC067125,BX648486,CR592168,CR610326,CR610870,CR749678,NM_033415,AW615748,BQ012036,CX869901,NM_001199196 AAD03162,EAW84775,EAW84776,BAG58410,BAG64843,AAH03700,AAH67125,CAH18469,Q68CW5,Q6NXE6,NP_219483,NP_001186125 Hs.77876 MGC19595|R30923_1 armadillo repeat-containing protein 6 protein-coding 1347915 ARMC7 armadillo repeat containing 7 737633,1580863 16189514,15489334,14702039,12477932,17207965 737633 79637 NM_024585,AC022211,AC111186,CH471099,AK025813,AK300997,BC011728,CR608358,CR615145,CR622080 NP_078861,EAW89236,EAW89237,EAW89238,EAW89239,BAB15242,BAG62616,AAH11728,Q9H6L4,ADQ33149 Hs.413047 FLJ22160 armadillo repeat-containing protein 7 protein-coding 1601876 ARMC8 armadillo repeat containing 8 17207965,17467196,14702039,12477932,11042152,19615732 25852 AK315932,AL096748,BC013424,BC032661,BC041699,BF966252,BQ719381,CR618018,NM_213654,NM_014154,AC022337,AC068777,BX538188,CH471052,AF109184,AF161541,AK001721,AK001882,AK098500,AK127341,AK128702,AK289577,AK296757,AK296837,AK299229,AK299769,AK304558,NM_015396 BAH14215,BAH14303,CAB46423,AAH13424,AAH32661,AAH41699,Q8IUR7,Q9NZY0,ADQ32698,NP_056211,NP_998819,NP_054873,EAW79075,EAW79076,EAW79077,EAW79078,EAW79079,EAW79080,EAW79081,EAW79082,AAQ13493,AAF29028,BAA91861,BAA91959,BAF82266,BAH12427,BAH12439,BAH12976,BAH13123 Hs.266826 HSPC056|MGC10058|MGC4880|S863-2 OTTHUMP00000216633|OTTHUMP00000216634|OTTHUMP00000216635|OTTHUMP00000216636|OTTHUMP00000216637|OTTHUMP00000216639|OTTHUMP00000216640|armadillo repeat-containing protein 8 protein-coding 1604597 ARMC9 armadillo repeat containing 9 16381901,16344560,15815621,15489336,15489334,14702039,12477932,11691810,11347906,11230166,11076863,20379614,19913121,20628086 80210 BX537956,CA427360,CR608697,DA030137,NM_025139,AC009407,AC018738,CH471063,AB058771,AK022646,AK027163,AK309395,AY219922,AY929062,BC004514,BC065271 AAH65271,CAD97923,Q7Z3E5,Q9H5E8,CAL38172,NP_079415,AAX93129,EAW70950,EAW70951,EAW70952,EAW70953,EAW70954,EAW70955,EAW70956,BAB47497,BAB14153,BAB15678,AAO63554,AAX22760,AAH04514 Hs.471610 ARM|FLJ12584|KU-MEL-1 NS21|armadillo/beta-catenin-like repeats|lisH domain-containing protein ARMC9|melanoma/melanocyte specific protein KU-MEL-1|melanoma/melanocyte-specific tumor antigen KU-MEL-1 protein-coding 1345943 ARMCX1 armadillo repeat containing, X-linked 1 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq] 1580863 16303743,15772651,15489334,14702039,12477932,11162520,9373149,8125298,20398052 51309 NM_016608,CH471115,CQ782722,Z73913,AB039670,AF248963,AK074785,AK222578,BC002691,CR616090,CR749609,NG_015846 NP_057692,EAX02874,EAX02875,CAF85956,CAI41999,BAA94603,AAG44561,BAC11208,BAD96298,AAH02691,CAH18404,Q68D26,Q9P291,ABM84422,ABM87397 Hs.9728 ALEX1|DKFZp686P06199 ARM protein lost in epithelial cancers on chromosome X 1|arm protein lost in epithelial cancers, X chromosome, 1|armadillo repeat-containing X-linked protein 1 protein-coding 1602335 ARMCX2 armadillo repeat containing, X-linked 2 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX1 and ALEX3, on the X chromosome. Two alternative transcripts that encode the same protein but differ in the 5' UTR have been described. Additional alternative transcripts may exist but their full length natures have not been determined. A pseudogene for this locus is located on chromosome 7. [provided by RefSeq] 15772651,15489334,15383276,12477932,11162520,9628581,8889548 9823 NM_014782,NM_177949,CH471115,Z83131,AB011084,AK291342,AL709063,BC012541,BC015926,BC052628,BG548388,BM676866,BX648494,NG_013221 NP_055597,NP_808818,EAX02885,EAX02886,EAX02887,EAX02888,EAX02889,EAX02890,EAX02891,CAI42019,CAI42020,CAI42021,CAI42022,CAI42023,CAI42024,BAA25438,BAF84031,AAH12541,AAH15926,Q5H9D7,Q5H9D8,Q5H9E0,Q5H9E1,Q7L311,ABM84493,ABM85249 Hs.48924 ALEX2|KIAA0512|MGC13343|MGC8742 ARM protein lost in epithelial cancers on chromosome X 2|OTTHUMP00000023690|OTTHUMP00000023691|OTTHUMP00000023692|OTTHUMP00000023693|OTTHUMP00000023694|OTTHUMP00000023697|arm protein lost in epithelial cancers, X chromosome, 2|armadillo repeat protein ALEX2|armadillo repeat-containing X-linked protein 2 protein-coding 1604814 ARMCX3 armadillo repeat containing, X-linked 3 This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 15489334,12975309,12477932,12107410,11162520,11042152,9373149,8125298,16169070,15772651,19304657,18029348,17081983,17643375 51566 AL121883,NM_016607,NM_177947,NM_177948,CH471115,AB039669,AF211175,AK222655,AK291225,AL708980,AY359079,BC005194,BG035798,BM905704,BU838618,BX647802,CA397688,CR597012,CR616317,CR626124,CR933656,NG_013222 NP_057691,NP_808816,NP_808817,CAI42939,EAX02880,EAX02881,EAX02882,EAX02883,EAX02884,BAA94602,AAF24487,BAD96375,BAF83914,AAQ89438,AAH05194,CAI45955,Q9UH62,ABM83965,ABM87279 Hs.592225 ALEX3|DKFZp781N1954|KIAA0443|MGC12199|dJ545K15.2 1200004E24Rik|ARM protein lost in epithelial cancers on chromosome X 3|arm protein lost in epithelial cancers, X chromosome, 3|armadillo repeat-containing X-linked protein 3 protein-coding 1347581 ARMCX4 armadillo repeat containing, X-linked 4 737633 11181995,12477932,14702039,15772651,16344560,17974005 737633 158947,100131755 Q8N0S0 NM_152583,AK096955,AK096955,AK125041,AK126987,AK292543,AL035422,AL050285,AL133280,AY726601,BC032236,BC036206,CH471115,CR595436,CR933662,DA450941,DA531702,NG_017196,NR_028407,Z68873,Z69838 BAC04910,BAF85232,BAG54416,CAI45960,EAX02868,EAX02869,EAX02870,EAX02871,EAX02872,EAX02873,Q5H9R4 Hs.9728 CXorf35|DKFZp586N0819|DKFZp781M0415|FLJ39636|FLJ43051|FLJ45041|MGC40053 miscrna 1350791 ARMCX5 armadillo repeat containing, X-linked 5 737633 18029348,15772651,15489334,14702039,12477932,15342556,16344560 737633 64860 NM_022838,AL035551,CH471190,AK023031,AK023444,AK096692,BC000792,BC022066,BC047679,BC050678,BC058904,BC064983,CR749476,AL537480,BE296807,BI765968,BP230064,BX352705,DA396979,DA558590,DA684921,DN991222,NG_016347,NM_001168478,NM_001168479,NM_001168480,NM_001168482,NM_001168485 NP_073749,CAI42194,EAW54732,EAW54733,EAW54734,BAB14367,BAG53350,AAH00792,AAH58904,AAH64983,CAH18306,Q6P1M9,NP_001161950,NP_001161951,NP_001161952,NP_001161954,NP_001161957,ADR82760 Hs.522729 DKFZp686A22185|FLJ12969|FLJ13382 OTTHUMP00000023718|OTTHUMP00000023719|armadillo repeat-containing X-linked protein 5 protein-coding 1352776 ARMCX6 armadillo repeat containing, X-linked 6 737633,1580863 17081983,15772651,15489334,14702039,12477932,16344560,17207965 737633 54470 NM_001009584,NM_019007,AL121883,CH471115,AI076820,AK000818,AK097018,BC007677,CR591698,CR598648,CR599653,CR614615,CR624030,L20773,AW955663,BX423052,DA933518,NG_021313,NM_001184768,NR_033669,NR_033670 NP_001009584,NP_061880,CAI42938,EAX02877,EAX02878,EAX02879,BAA91387,AAH07677,Q7L4S7,NP_001171697,ADQ31855 Hs.83530 FLJ20811 protein ARMCX6 protein-coding 1346634 ARMD1 age-related macular degeneration 1 (senile macular degeneration) 9715689 404 1606093 ARMS2 age-related maculopathy susceptibility 2 This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq] 20385826,18079691,19491722,19268887,19259132,19255159,19202148,19197355,19169232,19168221,19065273,19048105,19001225,18936151,18855541,18762075,18688167,18682812,18682806,18569809,18544707,18515590,18511946,18493315,18461138,18452766,18436811,18423869,18400199,18325906,18292785,18248681,18164066,18162041,18161619,18061132,18054635,17884985,17846368,17692272,17675241,17485225,17456821,17426452,17352366,17347568,17325155,17285240,17194541,17000705,16954704,16642439,16174643,16080115,12477932,20574013,20664794,20664795,20671585,20688737,19117936,19568762,19661236,19680273,19796758,19797206,19822855,19823576,19845562,19892838,19898184,19933179,19933195,19948975,20007824,20022638,20042647,20140183,20157352,20157618,20238042,20346514,20378180,20381870,20385819,20413980,20456446,20801516,20861866,20881291,20888482,21031019 387715 NM_001099667,NG_011725,BX842242,EU427528,BC066349,BC090924 NP_001093137,ACA35288,P0C7Q2,AAI60152 Hs.120359 ARMD8 age-related maculopathy susceptibility protein 2 protein-coding 732739 ARNT aryl hydrocarbon receptor nuclear translocator The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq] 634668,2313995,2313996,734608,1580863 20478051,20804916,20508969,8889548,7539918,8756616,9079689,1317062,1448077,8089148,19416713,19287200,19251700,19203995,19131627,19129502,19030229,19018768,18949049,18676680,18640100,18632753,18568448,18381358,18375543,18366646,18174159,17559847,16567799,16554418,16520375,16410262,16364012,16129408,16111650,16096055,16084889,16007214,15837795,15492120,15485806,15231748,15190133,14701734,14638687,12774124,12754377,12586752,12477932,12354770,12032587,12024042,11879970,11835227,11782478,11768231,11756572,11502749,11393538,11129342,10999956,10777486,10692439,10594042,10395741,9887096,9373149,9328285,9271372,9111057,9020169,8940186,8927054,8794892,8384309,8244375,8125298,8065341,7716743,7628454,7488247,1852076,11259606,9712901,12065584,11013261,10471301,15635607,8663540,9113979,9704006,18029348,18762723,19170196,19625176,19692168,19828131,19850893,20453000,19730683,17207965,21081473,19913121,20628086,20634891,20562859 634668,2313995,2313996,734608 405 BU730937,NM_001197325,NM_001668,A92931,AL137290,AL355860,AY430083,CH471121,Y18500,Y18859,AB209877,AF001307,AK223459,AK290177,AK291705,AK293027,AK304772,AK313780,AK315812,AL834279,BC028362,BC041121,NM_178427,BC060838,M69238 NP_001184254,NP_848514,NP_001659,CAB69528,CAI12797,AAQ96598,EAW53510,EAW53511,EAW53512,EAW53513,EAW53514,CAB65056,CAC21446,BAD93114,AAC03365,BAD97179,BAF82866,BAF84394,BAF85716,BAG65527,BAG36518,BAF98703,CAD38953,AAH60838,AAA51777,O43392,P27540,Q53F30,Q59ED4,Q9UH46,ADQ33017 Hs.632446 HIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2 HIF-1-beta|HIF1-beta|OTTHUMP00000218217|OTTHUMP00000218218|OTTHUMP00000218220|aryl hydrocarbon receptor nuclear translocator|class E basic helix-loop-helix protein 2|dioxin receptor, nuclear translocator|hypoxia-inducible factor 1, beta subunit|hypoxia-inducible factor 1-beta protein-coding 736413 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting addition roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq] 631760,1580863 20634891,20706985,12239177,17899366,17826745,16381901,15489336,15489334,12477932,12210012,11247670,11230166,11076863,10648817,9205841,14701734,11782478,16713569,18711365,19598235,8927054 631760 9915 NM_014862,AC016705,AC108451,AF185610,CH471136,AB002305,AK295763,BC029293,BC036099,BC051335,BX538026,BX647212,CR610681 NP_055677,AAG15310,EAW99114,BAA20766,BAG58589,AAH36099,AAH51335,CAD97972,Q7Z3A3,Q86TN1,Q9HBZ2,CAL37851,ABM92227,ABM85102 Hs.459070 KIAA0307|bHLHe1 ARNT protein 2|aryl hydrocarbon receptor nuclear translocator 2|class E basic helix-loop-helix protein 1 protein-coding 732520 ARNTL aryl hydrocarbon receptor nuclear translocator-like The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This complex binds an E-box upstream of the PER1 gene, activating this gene and possibly other circadian rhythym-associated genes. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 734609,1580863 9079689,9616112,9576906,19470168,19328558,19296127,19277210,18663240,18587630,18517031,18430226,18411297,18228528,17994337,17728404,17457720,17274950,16628007,16528748,16507006,16474406,14750904,14702039,14701734,14701732,12897057,12477932,12397359,11875063,11441146,11439184,10531061,9989497,9704006,9144434,18644859,14645221,19912323,15193144,19693801,19839995,19861541,19861640,19934327,20072116,20174623,20180986,20368993,20819778,18662547,20222832,20861012,21102462,19913121,20554694,20628086 734609 406 NM_001030273,NM_001030272,AB000813,AC016884,AC022878,CH471064,AB000812,AB000814,AB000815,AB000816,AF044288,AK095749,AK128317,AK291510,AK315174,BC016674,BC031214,BC041129,BE391243,CR611975,D89722,NM_001178,U51627,U60415,EF015894 NP_001169,NP_001025444,NP_001025443,BAA19936,EAW68503,EAW68504,EAW68505,EAW68506,EAW68507,EAW68508,EAW68509,EAW68510,EAW68511,EAW68512,EAW68513,BAA19935,BAA19937,BAA19938,BAA19939,AAC24353,BAG53120,BAF84199,BAG37615,AAH16674,AAH31214,AAH41129,BAA19968,AAC51213,AAB37248,O00327,ABZ91992,ABM64205 Hs.65734 BMAL1|BMAL1c|JAP3|MGC47515|MOP3|PASD3|TIC|bHLHe5 ARNT-like protein 1, brain and muscle|OTTHUMP00000197999|OTTHUMP00000198000|PAS domain-containing protein 3|aryl hydrocarbon receptor nuclear translocator-like protein 1|bHLH-PAS protein JAP3|basic-helix-loop-helix-PAS orphan MOP3|basic-helix-loop-helix-PAS protein MOP3|brain and muscle ARNT-like 1|class E basic helix-loop-helix protein 5|member of PAS protein 3|member of PAS superfamily 3 protein-coding 737603 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 1580863,2314371,2314359 11018023,19470168,18228528,15489334,12477932,12055078,11554928,10964693,10864977,14701734,18663240,19913121,20554694,20628086,19605937,19693801,19839995,20072116,20174623,20180986,20368993 2314371,2314359 56938 AF231338,AF231339,AF246960,AF246961,AF246962,AF246963,AF256215,AK296706,BC000172,BC043511,BC125061,BC125062,NM_020183,AC068794,AC092829,CH471094,AB039921,GM828357 AAF71306,AAF71307,AAL50339,AAL50340,AAL50341,AAL50342,AAG34652,BAH12415,AAH00172,AAI25062,AAI25063,Q8WYA1,NP_064568,EAW96552,EAW96553,EAW96554,BAB01485,CAV28553 Hs.434269,Hs.663740 BMAL2|CLIF|MGC149671|MGC149672|MOP9|PASD9|bHLHe6 CYCLE-like factor|PAS domain-containing protein 9|aryl hydrocarbon receptor nuclear translocator-like protein 2|basic-helix-loop-helix-PAS protein MOP9|brain and muscle ARNT-like 2|class E basic helix-loop-helix protein 6|member of PAS protein 9|transcription factor BMAL2|transcription factor bmal2 protein-coding 1344294 ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. [provided by RefSeq] 631743,1580863,2317557 20570966,12853948,12690205,12477932,9373149,9359840,9230079,8125298,16344560,8978670,17353931,19145645,17072959,15635413,15489334,17086175 631743,2317557 10552 DA089818,NM_001190996,NM_006409,AC004834,AC004922,CH236956,CH471091,AB209059,AK223015,BC006445,BC039594,BC047889,BC054027,BM924483,CR591610,CR595042,CR600813,CR601171,CR601183,CR601759,CR603938,CR605912,CR606734,CR606751,CR611053,CR612084,CR613605,CR613775,CR613946,CR614310,CR614445,CR615464,CR615755,CR618987,CR621448,CR622539,CR622858,CR623383,CR624023,CR624164,CR624757,Y08999 NP_001177925,NP_006400,AAS00381,EAL23883,EAW76681,EAW76682,EAW76683,BAD92296,BAD96735,AAH39594,AAH47889,AAH54027,CAA70203,Q53GB6,Q59GQ0,Q75MY0,Q92747,ACE87462,ACE86776 Hs.124126 Arc40|SOP2Hs|SOP2L OTTHUMP00000206034|SOP2-like protein|actin binding protein (Schizosaccharomyces pombe sop2-like)|actin-related protein 2/3 complex subunit 1A protein-coding 736395 ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. [provided by RefSeq] 631743,1580863 17353931,9230079,16723437,15635413,15489334,15279900,14749719,12853948,12690205,12665801,12477932,12115587,11943145,11741539,11721045,11533442,9359840,9126924,9110174,8619474,11162547,20603326 631743 10095 AC004922,CH236956,NM_005720,CH471091,AF006084,AK314818,AY007111,BC002562,BC002988,BC007555,CR592828,CR593544,CR594964,CR595319,CR597644,CR598240,CR599109,CR600794,CR600996,CR601410,CR602696,CR603393,CR605560,CR606115,CR606640,CR607425,CR608284,CR610935,CR611029,CR611876,CR612223,CR613210,CR615560,CR617089,CR617273,CR618425,CR619394,CR623271,CR624159,CR625033,CR625652 NP_005711,EAL23882,EAW76677,EAW76678,EAW76679,EAW76680,AAB64189,BAG37341,AAH02562,AAH02988,AAH07555,O15143,ABM83095,ABM86289 Hs.489284 ARC41|p40-ARC|p41-ARC ARP2/3 protein complex subunit p41|OTTHUMP00000206018|OTTHUMP00000206020|actin related protein 2/3 complex, subunit 1b|actin-related protein 2/3 complex subunit 1B|arp2/3 complex 41 kDa subunit protein-coding 1314126 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq] 631743,1580863 11162547,9230079,18836448,18708039,17353931,17350576,16027158,15793564,15635413,15489334,15279900,14702039,12665801,12477932,11741539,11721045,10235267,9359840,8812419,11018051,11882288,20974812,18029348,19861958,20308062 631743 10109 NM_152862,NM_005731,AC021016,AC097483,CH471063,AF006085,AF279893,AK092520,AK093625,AK290268,BC000590,BG765898,BT006898,CR591086,CR593196,CR594692,U50523 NP_690601,NP_005722,AAX93213,EAW70591,EAW70592,EAW70593,EAW70594,EAW70595,EAW70596,EAW70597,AAB64190,AAK07550,BAF82957,AAH00590,AAP35544,AAC50874,O15144,Q53R19,Q9BXV5 Hs.529303 ARC34|PNAS-139|PRO2446|p34-Arc ARP2/3 protein complex subunit 34|actin-related protein 2/3 complex subunit 2|arp2/3 complex 34 kDa subunit protein-coding 1323728 ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p21 subunit, has yet to be determined. 631743,1580863 17353931,9230079,16169070,15793564,15635413,15489334,12665801,12477932,11790298,11741539,11721045,11162547,11146629,9359840,9000076,11018051,9889097,17207965 631743 10094 NM_005719,AC144548,CH471054,AF004561,AF006086,AK311789,BC067747,BC078162,BG723870,BM999380,CR407667,CR595174,CR606213,CR611961,CR616701,DQ328220,AK297309 NP_005710,EAW97912,EAW97913,AAB61466,AAB64191,BAG34732,AAH67747,AAH78162,CAG28595,ABC59627,O15145,Q2LE71,BAG59775,ADQ32064 Hs.524741 ARC21|p21-Arc ARP2/3 protein complex subunit p21|OTTHUMP00000166106|actin-related protein 2/3 complex subunit 3|arp2/3 complex 21 kDa subunit protein-coding 1353664 ARPC3B actin related protein 2/3 complex, subunit 3B, 21kDa 17353931 87171 NG_002363,AL133174 ARPC3B|dJ470L14.3 pseudo 4890650 ARPC3P2 actin related protein 2/3 complex, subunit 3 pseudogene 2 391160 AL590101,NG_022826 pseudo 4890511 ARPC3P3 actin related protein 2/3 complex, subunit 3 pseudogene 3 729494 AP002784,NG_021798 pseudo 4890485 ARPC3P4 actin related protein 2/3 complex, subunit 3 pseudogene 4 100421973 AP002770,NG_024384 pseudo 4890724 ARPC3P5 actin related protein 2/3 complex, subunit 3 pseudogene 5 441131 AL365265,NG_022345 pseudo 1320803 ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p20 subunit, has yet to be determined. Three transcript variants encoding two distinct isoforms have been found for this gene. 631743 9230079,17274980,16169070,15635413,15489334,14702039,12665801,12477932,11741539,11721045,9359840,17353931,12451597,11162547,11018051,18805923,20404198,20959098,16344560 631743 10093 NM_001024959,NM_001024960,AC022382,CH471055,AF006087,AF019888,AK074205,AW408422,BC012596,BI768875,BM045872,CR591140,CR596225,CR600023,CR603965,CR604776,NM_005718,CR605099,CR608569,CR609085,CR609636,CR609728,CR610621,CR614127,CR614179,CR615155,CR615394,CR617543,CR624081,BC065423,AI612891,BG938423,BI910730,BQ688329,BX419672,DA226584,DA909066,DB060690,NM_001198780 NP_005709,NP_001020130,NP_001020131,EAW64001,AAB64192,AAB71548,AAH12596,P59998,AAI52791,NP_001185709 Hs.323342 ARC20|MGC13544|P20-ARC|p20-Arc Arp2/3 protein complex subunit p20|OTTHUMP00000165252|OTTHUMP00000207518|OTTHUMP00000207520|actin-related protein 2/3 complex subunit 4|arp2/3 complex 20 kDa subunit|arp2/3 protein complex subunit p20 protein-coding 1323427 ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. [provided by RefSeq] 631743,1580863 17353931,9230079,9359840,16710414,15489334,14702039,12829704,12665801,12477932,11741539,11721045,11162547,10508170,12451597,19615732,17207965 631743 10092 NM_005717,AL137800,CH471067,AF006088,AF017807,AK095424,AK129598,BC057237,BC071857,BI758106,CR591569,CR591801,CR595907,CR598054,CR598282,CR598841,CR599431,CR604294,CR609144,CR609655,CR611261,CR613345,CR615806,CR620410,CR626606 NP_005708,CAC19687,CAI19481,CAI19482,EAW91163,EAW91164,AAB64193,AAB70561,BAG53053,AAH57237,AAH71857,O15511,AAI52790,Q6IPM3,ADQ32213 Hs.518609 ARC16|MGC88523|dJ127C7.3|p16-Arc Arp2/3 protein complex subunit p16|OTTHUMP00000038626|actin-related protein 2/3 complex subunit 5|arp2/3 complex 16 kDa subunit protein-coding 1318888 ARPC5L actin related protein 2/3 complex, subunit 5-like 1580863 17207965,17353931,17081983,16169070,15489334,15164053,14702039,12477932 81873 NM_030978,AL354928,CH471090,AF087842,AK056174,AK315604,BC000018,BC000798,BC002418,BC031388,CR590465,CR604261,CR607056,CR611360,CR612746,CR616144 ADQ33175,NP_112240,CAI39641,EAW87603,EAW87604,AAP97155,BAG51639,AAH00018,AAH00798,AAH02418,Q9BPX5 Hs.132499 ARC16-2|MGC3038 OTTHUMP00000022111|actin-related protein 2/3 complex subunit 5-like protein|arp2/3 complex 16 kDa subunit 2 protein-coding 1607001 ARPM1 actin related protein M1 15489334,14702039,12477932,11750065 84517 AB049117,AC078802,AK055346,BC007289,NM_032487,AI811210 BAB39481,BAB70906,AAH07289,Q9BYD9,ABM87440,ABW03891,NP_115876 Hs.135411 MGC15664 actin-related protein M1 protein-coding 1606317 ARPP-21 cyclic AMP-regulated phosphoprotein, 21 kD 15489334,15144186,14702039,12477932,10931946,8889548,8120638,17207965,21116278,19734545,20379614 10777 AAB30130 BC036548,BC036399,BC041385,BC051828,BC066651,BG535216,BQ423297,BU741999,BX488342,BX537647,NM_016300,NM_001025069,NM_001025068,NM_198399,AC016943,AC104308,AC133143,CH471055,AF112220,AK055064,AK057559,AK091377,AK093648,AK289649,AK289868,AK294484,AL133109,AV718064,AV718166,BC017805,BC031106 AAH36399,AAH41385,AAH51828,AAH66651,AAB30130,Q9UBL0,ACE87125,ACE86449,NP_057384,NP_001020240,NP_001020239,NP_938409,EAW64470,EAW64471,EAW64472,AAF17207,BAG51459,BAF82338,BAF82557,BAG57707,CAB61414,AAH17805,AAH31106,ADQ32260 Hs.475902,Hs.713605 ARPP-21|FLJ32997|R3HDM3|RCS|TARPP OTTHUMP00000208635|OTTHUMP00000208639|OTTHUMP00000208641|OTTHUMP00000208647|OTTHUMP00000208649|OTTHUMP00000208651|OTTHUMP00000208654|OTTHUMP00000208656|OTTHUMP00000208657|OTTHUMP00000208658|R3H domain containing 3|cAMP-regulated phosphoprotein 21|cyclic AMP-regulated phosphoprotein, 21 kD|thymocyte cAMP-regulated phosphoprotein protein-coding 1606318 ARPP19 cAMP-regulated phosphoprotein, 19kDa 9653196,15489334,14702039,12477932,11771749,11279279,10754390,8687439,8120638,2160982,20098747,20471941 10776 NM_006628,AC025917,CH471082,AF084555,AJ223091,AK023195,AK123616,AK311751,AL833077,AW407610,BC003418,BC100015,BQ422616,CR457132,CR593448,CR620536 NP_006619,EAW77454,EAW77455,AAD52044,CAA11115,BAG34694,CAD89929,AAH03418,AAI00016,CAG33413,P56211 Hs.600029,Hs.713393 ARPP-16|ARPP-19|ARPP16|ENSAL|FLJ41622 cAMP-regulated phosphoprotein 19|cyclic AMP phosphoprotein, 19 kD|endosulfine alpha-like protein-coding 1350252 ARR3 arrestin 3, retinal (X-arrestin) 1580863 8224247,19001375,18802075,17680991,17353931,16189514,15772651,15489334,12918707,12853434,12850288,12824223,12486395,12477932,11877451,11729201,11063754,9931451,9852134,9827808,8612728,8308033,16169070,20460384,17947233,20056609 407 NM_004312,AF076512,AL357752,CH471132,AF033105,BC012096,BG472156,CR456849,EU883571,U03626 NP_004303,AAC27524,CAI41490,CAI41491,EAX05348,EAX05349,EAX05350,EAX05351,AAB84302,AAH12096,CAG33130,ACG60645,AAC78395,P36575,ABM83169,ABM86370 Hs.308 ARRX C-arrestin|X-arrestin|arrestin 4|arrestin-C|cArr|cone arrestin|retinal cone arrestin-3 protein-coding 732370 ARRB1 arrestin, beta 1 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described, however, their exact functions are not known. [provided by RefSeq] 1580863,1578803,4140399,4140419 20353998,16709866,16670094,16580177,16492667,16432186,16407241,16319069,16280323,16189514,16181421,15878855,15699339,15611106,15514408,15498833,15489334,15489220,15125834,15084596,14711824,14709160,12582207,12538596,12477932,12464600,12399592,12393857,12220636,12105416,12065593,12020767,11867621,11742073,11726668,11579203,11533043,11278883,11259507,11170396,10973280,10862778,10770944,10753943,10347182,10347142,10196135,9827808,9668034,9501202,9388255,9169477,8889548,8885248,8486659,7896272,18544533,11356842,14500724,11777907,2163110,17353931,17620599,9924018,10823817,19306926,18940181,18775329,18768750,18729826,18703513,18678875,18534983,18276584,17947233,17890288,17623778,17579607,17436063,17377064,17272726,17008309,20855896,20956518,17207965,16344560,20650893,10521508,10644702,11031247,11252894,11694590,15173580,16051150,16325578,16378096,16611986,17900862,19153083,19262695,19279230,19363159,19404096,19453261,19509284,19609003,19661922,19879840,20086095,20353754,20379614,20936779,20717968,20725137 1578803,4140399,4140419 408 NM_020251,NM_004041,AP000744,AP001972,CH471076,DQ314865,AF084040,AF084940,AK074660,AK289718,BC003636,BQ883950,BU594296,BX402200,CB853136,CD365891,CR596009,CR604447,CR604964,CR612323,CR613470,CR620471,FJ348262,L04685,AK293758,AL157484,BM681392,CR735690,DA358665 NP_064647,NP_004032,EAW74960,EAW74961,EAW74962,ABC40724,AAC33295,AAC34123,BAF82407,AAH03636,ACI96306,AAA35558,AAA35559,P49407,ADQ31775,BAH11589 Hs.503284,Hs.625320 ARB1|ARR1 arrestin 2|arrestin beta-1|beta-arrestin|beta-arrestin-1 protein-coding 731570 ARRB2 arrestin, beta 2 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq] 734975,1580863,4140399,4140419 20457218,20936779,20228252,20505072,20656684,17353931,17620599,12958365,9346876,19458261,19453261,19416857,19363159,19306926,19279230,19239323,19219857,19188335,19171933,19071087,19049562,19008961,18940181,18937294,18802075,18801735,18768750,18703513,18691971,18621717,18435604,18408005,18039931,18036556,18006496,17984062,17978999,17761157,17713785,17579607,17565992,17540773,17377064,17272726,17256744,17233643,17038311,17005854,16968782,16894395,16820410,16689683,16605244,16580177,16513835,16308565,16181421,16103897,16038799,15888437,15817468,15728711,15699339,15699045,15687500,15635042,15634674,15626751,15618519,15528268,15489334,15489220,15364949,15361545,15355986,15231748,15125834,14769794,14711824,14702039,12958364,12949261,12654503,12582207,12538596,12488444,12477932,12473660,12464600,12370187,12186555,12105416,12070169,11877451,11867621,11729201,11588219,11535606,11533043,11356842,11279203,11259507,11226259,11090355,10858453,10644702,10097102,9668034,9037196,8486659,7695743,1587386,1517224,18544533,17947233,16169070,14500724,20035620,20497256,15173580,15611106,15878855,16051150,16325578,16378096,16611986,18604210,19531493,19730683,19794961,19846537,19874574,20056609,20478633,20514076,15782195,20734064 734975,4140399,4140419 409 NM_004313,NM_199004,AC091153,CH471108,DQ314866,AB209786,AF106941,AK097542,AK290951,AK297059,AK297181,BC007427,BC039066,BC067368,BC095450,BG723452,CR450310,CR591682,CR595738,CR609288,CR618545,CR619621,CR620216,CR620652,CR749218,DQ664180,EU883572,Z11501 NP_004304,NP_945355,EAW90419,EAW90420,EAW90421,EAW90422,ABC40725,BAD93023,AAC99468,BAC05094,BAF83640,BAG59581,BAG59672,AAH07427,AAH67368,CAG29306,CAH18075,ABG47460,ACG60646,CAA77577,P32121,Q59EM5,Q68DZ5,ABM84152,ABM87555,ABW03579 Hs.435811 ARB2|ARR2|BARR2|DKFZp686L0365 arrestin 3|arrestin beta-2|beta-arrestin-2 protein-coding 1320585 ARRDC1 arrestin domain containing 1 737633 15489334,15164053,14702039,12477932 737633 92714 AL365502,CH471090,AA552336,AB209523,AJ420420,AK001822,AK308376,AL542109,BC032346,CR595686,CR596025,CR596578,CR596744,CR596964,CR597223,CR597743,CR603346,CR603444,NM_152285,CR603736,CR603835,CR604807,CR605706,CR608402,CR609326,CR610824,CR611460,CR617572,CR618757,CR621522,CR623487,CR625126,CR627251 NP_689498,CAI14587,CAI14588,CAI14589,EAW88403,EAW88404,EAW88405,BAD92760,AAH32346,Q59FD7,Q8N5I2 Hs.12999 MGC40555|RP11-48C7.5 OTTHUMP00000022709|arrestin domain-containing protein 1 protein-coding 1320117 ARRDC2 arrestin domain containing 2 15498874,15489334,14702039,12477932,9110174,8619474 27106 NM_001025604,NM_015683,AC020904,CH471106,AF131826,AF193051,AK000689,AK127940,AK128588,AK314657,BC022516,BQ940909 NP_001020775,NP_056498,EAW84648,EAW84649,EAW84650,EAW84651,AAD20053,AAG22479,BAC87200,BAG37216,AAH22516,Q8TBH0 Hs.515249 CLONE24945|PP2703 arrestin domain-containing protein 2 protein-coding 1348140 ARRDC3 arrestin domain containing 3 737633 19605364,20306291,16344560,16269462,15489334,12477932,10718198,17207965,20559325,20603614 737633 57561 NM_020801,AC008799,CH471084,CS300561,AB037797,AK025028,AK026917,AK291753,BC015928,BC053619,CR596450,CR608314,DA110572 NP_065852,EAW95997,CAK32225,BAA92614,BAF84442,AAH15928,AAH53619,Q96B67,ADQ32737 Hs.726262 KIAA1376|TLIMP TBP-2-like inducible membrane protein|arrestin domain-containing protein 3|thioredoxin-binding protein-2-like inducible membrane protein-coding 1323388 ARRDC4 arrestin domain containing 4 737633 18307387,16368877,16344560,15489334,14702039,12477932,19605364,20634892 737633 91947 NM_183376,AC024651,CH471101,AA872967,AK026436,AK093364,AK290221,BC028704,BC038453,BC070100,BY797927,DB089068,AK296448,AK316280 NP_899232,EAX02213,EAX02214,BAG52696,BAF82910,AAH28704,AAH70100,Q8NCT1,BAG59099,BAH14651 Hs.6093 FLJ36045 arrestin domain-containing protein 4 protein-coding 1353583 ARRDC5 arrestin domain containing 5 12886014 645432 NM_001080523,AC027319 NP_001073992,A6NEK1 Hs.574574 arrestin domain-containing protein 5 protein-coding 1321256 ARSA arylsulfatase A The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Multiple alternatively spliced transcript variants, one of which encodes a distinct protein, have been described for this gene. [provided by RefSeq] 1358434,1599223,1358435,1580863 7192199,2574462,1975241,1684088,1678251,1676699,1674719,1673291,1670590,1357970,1353340,1352993,1352356,36611,14702039,12888274,12788103,12477932,12473917,12459318,12081727,11941485,11857580,11777924,11456299,11333871,11124905,11061266,10591208,10493829,10359658,10220151,9888390,9744473,9668161,9600244,9521684,9490297,9090526,8723680,8104633,8101083,8101038,8095918,7981715,7909527,7906588,7902317,7866401,7860068,7858169,7833949,7825603,7815433,7628016,7581401,2562955,18029348,19262745,19224915,19054018,19021637,18768108,18693274,18248830,17845130,17660863,17560502,17329011,16782379,16678723,16344560,16341674,16311251,16140556,16110195,15772092,15710861,15489334,15461802,15375602,15342556,15188402,15146197,15026521,14571263,15962010,19606494,8889548 1358434,1599223,1358435 410 NM_001085425,NM_001085428,NM_001085426,NM_001085427,NG_009260,AY271820,CH471138,U62317,X52150,AB448736,AK092752,AK098659,AK301098,AK315011,BC014210,BI770997,BM818814,BP306351,BU632196,BX648618,CA423492,CN409235,CR456383,CR590422,CR598173,NM_000487,CR599839,CR600807,CR607373,CR613582,CR614235,DA844740,X52151,BQ184813,DB028013,XR_109757,XR_112270,XR_115495 NP_000478,NP_001078894,NP_001078897,NP_001078895,NP_001078896,AAP03431,EAW73582,EAW73583,AAB03341,CAA36398,BAH11167,BAG62697,BAG37503,AAH14210,CAH56144,CAG30269,CAA36399,P15289,Q63HL5,CAK54372,CAK54671,ABM83843,ABM87165,ACE87690,ACE87001 Hs.88251 MLD ASA|arylsulfatase A|cerebroside-sulfatase protein-coding 737370 ARSB arylsulfatase B Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863,1599228 2303452,1718978,19084217,18406185,18299243,18285341,17643332,17458871,17324393,16435196,14974081,12477932,11802522,11668612,10738004,10036316,9582121,9032078,8889548,8723688,8651289,8541342,8125475,8116615,7687847,7628016,6767391,4215420,1968043,1930244,1550123,1390929,1301949,18486607,19306108,19346317,19668339,20379614,19913121,20628086 1599228 411 NM_198709,NG_007089,AC020937,AC025755,AC099485,AC114963,CH471084,S57777,X72735,NM_000046,AI244301,AI457798,AI821478,AK026942,AK290865,AK314903,AL135624,AW236748,BC029051,BC036609,BM664932,BQ216635,BQ775217,BX350102,BX364854,BX369127,CR590324,J05225,M32373 NP_000037,NP_942002,EAW95821,EAW95822,EAW95823,AAB19988,CAA51272,BAF83554,BAG37417,AAH29051,AAA51784,AAA51779,P15848,Q8N322 Hs.149103,Hs.604199 ASB|G4S|MPS6 N-acetylgalactosamine-4-sulfatase|arylsulfatase B protein-coding 1350901 ARSC2 arylsulfatase C, isozyme F 1690506,6586638 413 1353523 ARSD arylsulfatase D The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. This encoded protein is postranslationally glycosylated and localized to the lysosome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7720070,14702039,12477932,11177574,11027669,8845834 414 NM_001669,NM_009589,NG_012495,AC005295,CH471074,AF160499,AK021472,AK055239,AK314479,BC020229,BC080179,X83572 NP_001660,NP_033667,EAW98713,EAW98714,EAW98715,EAW98716,AAF22253,CAA58555,P51689 Hs.528631 ASD|arylsulfatase D protein-coding 1343522 ARSDP arylsulfatase D pseudogene 12815422,8845834 10034 NG_000881,AC002992 ARSDP|ARSDY1 pseudo 1312633 ARSE arylsulfatase E (chondrodysplasia punctata 1) Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. [provided by RefSeq] 1580863,1599238 9192838,7720070,18348268,12567415,11177574,9497243,9409863,9373149,8845834,8125298,16169070,12477932 1599238 415 NM_000047,NG_007091,AC005295,CH471074,AK223183,AK223199,AK293648,AK301004,AK313093,AW779826,BC130438,X83573 NP_000038,EAW98717,EAW98718,EAW98719,EAW98720,BAD96903,BAD96919,BAH11556,BAH13390,BAG35917,AAI30439,CAA58556,P51690,ADR83078 Hs.386975 CDPX|CDPX1|CDPXR|MGC163310 ASE|arylsulfatase E|chondrodysplasia punctata 1 protein-coding 1344063 ARSEP arylsulfatase E pseudogene 12815422,8845834 10033 NG_000880,AC002992 ARSEP pseudo 1344739 ARSF arylsulfatase F This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. [provided by RefSeq] 1580863 9192838,18029348,15489334,12477932,9685421,9229115,7720070,15342556,16344560 416 NM_004042,AC112653,CH471074,BC022389,BQ228278,X97868,BP274206,BP277542,BX107362,DA156994,DA628671,NM_001201538,NM_001201539,NG_012822 NP_004033,EAW98722,AAH22389,CAA66462,P54793,NP_001188467,NP_001188468 Hs.101674 ASF arylsulfatase F protein-coding 1353090 ARSFP arylsulfatase F pseudogene 12815422 23757 NG_002804,AC004772 ARSFP pseudo 1602225 ARSG arylsulfatase G Sulfatases, such as ARSG, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This gene, a novel arylsulfatase, has activity toward pseudosubstrates including p-nitrocatechol sulfate and 4-methylumbelliferyl sulfate. Activity is competitively inhibited by phosphate. The unprocessed protein is active as a 63-kDa monomer and demonstrates an acidic pH optimum as typically seen for lysosomal sulfatases. The protein accumulates within lysosomes and is also a glycoprotein that binds specifically to mannose 6-phosphate receptors. [provided by RefSeq] 10231032,12461688,16174644,18283100,15489334,12975309,12477932,19960030,20379614 22901 NM_014960,AC005332,AC007780,CH471099,AB023218,AK311327,AY358380,BC012375,CR593524 NP_055775,EAW89055,EAW89056,BAA76845,AAQ88746,AAH12375,Q96EG1 Hs.437249 KIAA1001 ASG|arylsulfatase G protein-coding 1605805 ARSH arylsulfatase family, member H Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16174644 347527 NM_001011719,AC112653,CH471074,AY875940 NP_001011719,EAW98721,AAW66668,Q5FYA8,AAI48493,AAI53086 Hs.351533 sulfatase ASH|arylsulfatase H protein-coding 1604953 ARSI arylsulfatase family, member I Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16174644,19262745,16500042,16344560,15146197,14702039,12477932 340075 DA264664,DA759270,NM_001012301,AC011372,CH471062,CQ866756,AB448735,AK122641,AY875937,BC111002,BC129995,BC129996,CN369733 Q5FYB1,NP_001012301,EAW61740,CAH25968,BAH11166,BAG53634,AAW66665,AAI29996,AAI29997 Hs.591252 FLJ16069 ASI|arylsulfatase I protein-coding 1606235 ARSJ arylsulfatase family, member J Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16174644,16500042,16344560,15489334,12975309,12477932,20332099 79642 NM_024590,AC104779,AI087279,AK027201,AK307532,AM049401,AY358647,AY875938,BC032010,BC033156,BC089445,BC132879,BC132881,BC142701,BC144265,BC151213,BG661302,DA031262,DA884606 NP_078866,BAB15689,CAJ18095,AAQ89010,AAW66666,AAH32010,AAH89445,AAI32880,AAI32882,AAI44266,Q1HA39,Q5FYB0,Q8N5N6,Q9H5D8 Hs.22895,Hs.712042,Hs.700496 FLJ23548 ASJ|arylsulfatase J protein-coding 1606445 ARSK arylsulfatase family, member K Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16500042,16174644,15489334,12975309,12477932 153642 BC130329,AC008547,AC090071,CH471084,CQ866752,AK303855,AK316253,AL832711,AY358596,AY875939,BC036047,BC050392,NM_198150,BC144160,BC144161 AAH50392,AAI30330,NP_937793,EAW96039,EAW96040,CAH25966,BAG64796,BAH14624,CAD38634,AAQ88959,AAW66667,AAH36047,ADR83046,Q6UWY0,Q86W75 Hs.585051 DKFZp313G1735|TSULF ASK|OTTHUMP00000222479|arylsulfatase K|telethon sulfatase protein-coding 1312119 ART1 ADP-ribosyltransferase 1 ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq] 1580863 7947688,9119374,17614107,16627471,12477932,11498506,10092875,8812442 417 AC060812,CH471158,AJ291430,BC017828,BC069102,BC069828,BC111729,S74683,NM_004314 NP_004305,EAX02558,EAX02559,CAC69964,AAH69102,AAI11730,AAB32387,P52961 Hs.382188 ART2|CD296|MGC133217|RT6 ADP-ribosyltransferase 2|GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1|mono(ADP-ribosyl)transferase 1 protein-coding 1350034 ART2P ADP-ribosyltransferase 2 (RT6 antigen homolog, rat) pseudogene 8812442,8005606,7966280,20210993 418 NG_001076,AP003785,AP005019,X65050,NG_024531 ART1P|RT6 pseudo 1320437 ART3 ADP-ribosyltransferase 3 ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases, such as ART3, transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases (see PARG; MIM 603501) reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM] 1580863 9119374,18266473,16934346,16625277,15489334,12477932,12070318,11879200,10460751,9373149,8605984,8125298,16040347,18029348,20237496,20379614,19913121,20628086 419 NM_001130016,NM_001130017,AC112719,CH471057,X95827,AK129914,AK225860,AK295305,AK308810,AY543655,AY543656,AY543657,AY543658,AY543659,AY543660,AY550336,AY550337,AY550338,AY550339,AY550340,AY550341,AY550342,AY550343,AY550344,AY550345,AY550346,BC008397,BC017913,BT007249,CR541664,DB451386,U47054,NM_001179 NP_001170,NP_001123488,NP_001123489,EAX05765,EAX05766,EAX05768,EAX05769,EAX05770,EAX05771,CAA65096,BAG58285,AAT10277,AAT10278,AAT10279,AAT10280,AAT10281,AAT10282,AAT45030,AAT45031,AAT45032,AAT45033,AAT45034,AAT45035,AAT45036,AAT45037,AAT45038,AAT45039,AAT45040,AAH08397,AAH17913,AAP35913,CAG46465,AAB01894,Q13508,Q5J1K4,Q5J1K5,Q5J1K6,Q5J1K7,Q5J1K8,Q5J1K9,Q5J1L0,Q5J1L1,Q5J1P8,Q5J1Q0,ABM84209,ABM87613 Hs.24976 FLJ26404 NAD(P)(+)--arginine ADP-ribosyltransferase 3|OTTHUMP00000219069|OTTHUMP00000219070|OTTHUMP00000222097|ecto-ADP-ribosyltransferase 3|mono(ADP-ribosyl)transferase 3|mono-ADP-ribosyltransferase protein-coding 1315084 ART4 ADP-ribosyltransferase 4 (Dombrock blood group) This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq] 1580863 20932078,15847654,15489334,12519438,12477932,12070318,12028057,11896313,11520417,10971215,8882867,6034522,9119374,11001920,18510579,16140404,16040347,20431033 420 NG_007477,AC007655,AF340233,AF340234,AF382212,AF382213,AF382215,AF382216,AF382218,AF382219,AF382222,AF382225,AY899803,CH471094,X95826,AF290204,AK291662,AY690666,AY829431,NM_021071,AY829432,AY829433,AY829434,AY829435,AY829436,AY829437,BX096478,CR746266,DQ072851,BC074727 NP_066549,AAK11274,AAK11275,AAM21462,AAM21464,AAM21465,AAM21466,AAM21467,AAW65375,EAW96332,CAA65095,AAG17845,BAF84351,AAW02794,AAX39378,AAX39379,AAX39380,AAX39381,AAX39382,AAX39383,AAX39384,AAH74727,Q3KZ25,Q3KZ26,Q3KZ27,Q3KZ28,Q3KZ29,Q3KZ30,Q5IRA6,Q93070 Hs.591158,Hs.655792,Hs.668803 CD297|DO|DOK1 ADP-ribosyltransferase 4 (DO blood group)|Dombrock blood group carrier molecule|NAD(P)(+)--arginine ADP-ribosyltransferase 4|dombrock blood group|ecto-ADP-ribosyltransferase 4|mono(ADP-ribosyl)transferase 4|mono-ADP-ribosyltransferase 4 protein-coding 1347628 ART5 ADP-ribosyltransferase 5 The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Transcript variants with different 5' UTRs, but encoding the same protein have been found for this gene. [provided by RefSeq] 634606,1580863 15489334,12975309,12477932,12070318,11587854,10448534,17207965 634606 116969 NM_001079536,NM_053017,AC060812,CH471158,AK313531,AW241897,AY358466,BC014577,BI825352,CD557970,Y16835 NP_001073004,NP_443750,EAX02555,EAX02556,EAX02557,AAQ88831,AAH14577,CAC79987,Q96L15,ADQ31665 Hs.125680 MGC22848 NAD(P)(+)--arginine ADP-ribosyltransferase 5|ecto-ADP-ribosyltransferase 5|mono(ADP-ribosyl)transferase 5 protein-coding 1347630 ARTN artemin The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2325817,2325819,2325821,2325815 9883723,19363524,18970938,18313696,16765900,16734417,16710414,15829225,15489334,12477932,10673327,10583383,9448325,20305694,20530713,19304517,20118197,20395845 2325817,2325819,2325821,2325815 9048 NM_057090,NM_057091,NM_001136215,AF115765,AJ245628,AL357079,CH471059,AF109401,AF120274,BC062375 NP_476431,NP_476432,NP_001129687,AAD13109,AAD13110,CAB52396,CAI16797,EAX07074,EAX07075,EAX07076,EAX07077,EAX07078,EAX07079,EAX07080,EAX07081,AAC98690,AAD21075,AAH62375,Q5T4W7 Hs.632404 ENOVIN|EVN|NBN artemin|neublastin|neurotrophic factor protein-coding 1349198 ARV1 ARV1 homolog (S. cerevisiae) 1580863 16710414,15489334,14702039,12477932,12145310,11063737,17207965,20663892 64801 NM_022786,AL732414,AL844165,CH471098,AF271780,AF290878,AF321442,AK026629,AK293049,AL122047,BC016309,CR624344 NP_073623,CAH73698,CAH73699,CAH73700,CAH73701,CAI15332,CAI15333,CAI15334,CAI15335,EAW69934,EAW69935,EAW69936,EAW69937,EAW69938,EAW69939,EAW69940,EAW69941,AAG44791,AAG47671,AAK11180,BAB15513,BAF85738,CAB59183,AAH16309,Q9H2C2,ADQ31700 Hs.275736 OTTHUMP00000036064|OTTHUMP00000036065|OTTHUMP00000036067|hARV1|protein ARV1 protein-coding 1315392 ARVCF armadillo repeat gene deletes in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS) a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq] 1578806,1580863 9126485,18600340,18198266,16118784,15509897,15456900,15345747,15340358,14702039,12477932,11821434,11058098,10725230,9721216,9192844,7677167,19508883,19617637,19692168,19706687,19724895,19851296,20198315,20333729,20379614,8889548,20634891 1578806 421 NM_001670,AC005663,CH471176,AK092664,BC036893,BC137436,CR590273,CR623754,U51269,NG_023326,BM716184 NP_001661,EAX03007,EAX03008,EAX03009,BAC03941,AAH36893,AAI37437,AAC51202,O00192,Q05BN6,Q8NAH4 Hs.713616 FLJ35345 OTTHUMP00000198346|OTTHUMP00000198347|OTTHUMP00000198348|armadillo repeat protein deleted in velo-cardio-facial syndrome protein-coding 1353866 ARVD1 arrhythmogenic right ventricular dysplasia 1 1578811 7951245 1578811 422 1353946 ARVD2 arrhythmogenic right ventricular dysplasia 2 1578810 8589694 1578810 423 1349140 ARVD3 arrhythmogenic right ventricular dysplasia 3 1578812 8824801 1578812 424 1345748 ARVD4 arrhythmogenic right ventricular dysplasia 4 1578812 9344647 1578812 425 1344380 ARX aristaless related homeobox This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq] 1599257,1599258,1598407,1580863 20384723,19085879,18975239,18923043,18468866,17668384,17664401,17641262,17613295,17490853,17480217,17082467,17044103,16988001,16845484,16523516,15850492,15726411,15707237,15533998,15199382,14722918,12874418,12874405,12736870,12379852,12376949,12376946,12359145,12177367,12142061,11971879,11889467,10920247,10398246,10398243,9001795,8826464,8826462,8826457,3177452,1605216,20506206,19587282,19605412,19734009,19738637 1599257,1599258 170302 NM_139058,NG_008281,AC002504,CH471074,AA484051,AY038071,BF196892,BQ100952,BQ269551,CA775911 NP_620689,EAW99031,EAW99032,AAK93901,Q96QS3 Hs.300304 CT121|ISSX|MRX29|MRX32|MRX33|MRX36|MRX38|MRX43|MRX54|MRX76|MRX87|MRXS1|PRTS aristaless-related homeobox, X-linked|cancer/testis antigen 121|homeobox protein ARX protein-coding 1342748 AS ankylosing spondylitis 426 1350697 AS3MT arsenic (+3 oxidation state) methyltransferase AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM] 625365,1580863 19411561,19371612,19167370,19159958,19152805,18976679,18682255,18588996,18414634,18334919,17889916,17850829,17637926,17450230,17306849,16407288,16344560,15929903,15808521,12477932,11790780,9373149,20877624,8125298,20571777,16385451,19430483,19538983,19896490,19932709,20014157,20129672,20532380,20547570 625365 57412 NM_020682,AL358790,AY817668,CH471066,AF226730,AK057833,AK225972,AK309737,BC119637,BC119638,DA368970,AW139845 NP_065733,CAI52503,AAV68045,EAW49668,EAW49669,AAG09731,AAI19638,AAI19639,Q0VDK3,Q0VDK4,Q9HBK9,AAI60057 Hs.720370 CYT19|RP11-753C18.6 2310045H08Rik|S-adenosyl-L-methionine:arsenic(III) methyltransferase|S-adenosylmethionine:arsenic (III) methyltransferase|arsenite methyltransferase|methylarsonite methyltransferase|methyltransferase cyt19 protein-coding 734135 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq] 734977,1580863 16169070,20520628,8955159,18477771,18245333,17881906,17713573,16806233,16500425,16344560,16335952,16263699,15489334,15210766,15088070,14702039,12815059,12764132,12754519,12638942,12477932,11451951,11241842,10974027,10959093,10610716,9838138,9373149,8889549,8125298,7744740,19298866,19905902,20379614,19913121,20628086 734977 427 NM_004315,NM_177924,NM_001127505,NG_008985,AC124242,AF220175,CH471080,AK025211,AK025732,AK098299,AK222780,AK289481,AY305384,BC016481,BC016828,BC035453,BG714023,BU633536,CB216602,CR602103,CR626069,DA260852,DA306573,DB561177,H78830,U47674,U70063 NP_004306,NP_808592,NP_001120977,AAF91230,EAW63791,EAW63792,EAW63793,EAW63794,EAW63795,BAB15085,BAG53608,BAD96500,BAF82170,AAQ75550,AAH16481,AAH16828,AAC73009,AAC50907,Q13510,Q53H01,Q96AS2,Q9H715,ABM81997,ABM85180 Hs.527412,Hs.633993 AC|ACDase|ASAH|FLJ21558|FLJ22079|PHP|PHP32 acid CDase|acid ceramidase|acylsphingosine deacylase|n-acylsphingosine amidohydrolase (acid ceramidase)|putative 32 kDa heart protein protein-coding 1605058 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM] 10781606,17982236,17475390,17334805,16940153,16229686,16061940,15946935,15845354,15489334,15210766,15164054,14557071,12477932,11328816,10753931,8076819,20520628,16385451,20877624 56624 AF449759,BC107105,BG289059,NM_001143974,NM_019893,AL450382,AY049008,CH471142,AF250847 AAQ04667,AAI07106,Q9NR71,NP_001137446,NP_063946,CAI15870,AAL06061,EAW80435,EAW80436,AAF86240 Hs.512645 BCDase|HNAC1|MGC129777|NCDase LCDase|N-CDase|N-acylsphingosine amidohydrolase 2|OTTHUMP00000211204|acylsphingosine deacylase 2|hCD|mitochondrial ceramidase|neutral ceramidase|neutral/alkaline ceramidase|non-lysosomal ceramidase protein-coding 1347222 ASAH2B N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B 17334805,15146197 653308 NM_001079516,AL589794 NP_001072984,CAI15766,CAI15767,P0C7U1 Hs.710005 ASAH2C|ASAH2L|bA449O16.3 ASAH2-like protein|OTTHUMP00000019609|putative inactive N-acylsphingosine amidohydrolase 2B|putative inactive neutral ceramidase B|putative inactive non-lysosomal ceramidase B protein-coding 1344716 ASAH2C N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C 16229686,16061940,15946935,15845354,15489334,15164054,14557071,10781606 653365 NG_012763,AL954360 CAI17190,P0C7U2 bA98I6.3 pseudo 1602686 ASAM adipocyte-specific adhesion molecule The CTX (see VSIG2, MIM 606011) family of proteins, including ASAM, are type I transmembrane proteins within the Ig superfamily that localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion (Raschperger et al., 2004 [PubMed 14573622]).[supplied by OMIM] 18029348,15563274,14573622,12975309,12851705,12477932,12107410,17207965,17538635,20379614 79827 AY326422,AY358340,BC009371,BE272517,BG723094,BK001245,CA395814,CR622259,AK304843,NM_024769,AP000926,AP001970,CH471065,CQ802458,AK026068 BAG65585,AAP88386,AAQ88706,AAH09371,DAA01139,Q9H6B4,ADQ32343,BAB15347,NP_079045,EAW67543,EAW67544,EAW67545,CAG28887 Hs.591949 ACAM|ASAM|CLMP|FLJ22415 CAR-like membrane protein|adipocyte adhesion molecule|adipocyte-specific adhesion molecule|coxsackie- and adenovirus receptor-like membrane protein 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1354069 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 1580863 20936779,12029088,17474147,19017632,18685082,18519696,18400762,16636290,16421571,16038802,15897555,14702039,12522101,12477932,12149250,12058076,11773070,10574462,9819391,15719014,12771146,16223492,17255943,19041431,19525955,20154719 50807 HI574070,NM_018482,AC009682,AC103725,AC131568,AC139019,CH471060,AB033075,AF222859,AI656533,AK056811,AK314695,AW236866,AW236958,BC020631,BC070268,BC105978,BC137135,BC144493,BX537768,CR601698 CBX47524,NP_060952,EAW92130,EAW92131,BAA86563,AAF67666,AAH20631,AAI37136,CAD97831,Q8WWA4,Q9NYZ7,Q9ULH1 Hs.655552 AMAP1|CENTB4|DDEF1|KIAA1249|PAG2|PAP|ZG14P 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein|ADP-ribosylation factor-directed GTPase-activating protein 1|ARF GTPase-activating protein 1|DEF-1|PIP2-dependent ARF1 GAP|arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1|centaurin, beta 4|development and differentiation enhancing factor 1|development and differentiation-enhancing factor 1|differentiation-enhancing factor 1 protein-coding 1313189 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20936779,11716503,19010793,17081983,15719014,15489334,15483625,15231847,14702039,12477932,12149250,11304556,10749932,10022920,9819391,9455477,17353931,20944657,17474147 8853 NM_003887,NM_001135191,AC079782,AC080162,AC093904,CH471053,AA918883,AB007860,AK091121,AK124900,BC063308 NP_003878,NP_001128663,AAY14904,AAY14856,AAY24112,EAX01002,EAX01003,EAX01004,EAX01005,EAX01006,BAA23696,BAC03588,AAH63308,O43150,Q53R39,Q53RS3,Q53RT9,Q8N282 Hs.555902 AMAP2|CENTB3|DDEF2|FLJ42910|KIAA0400|PAG3|PAP|Pap-alpha|SHAG1 PYK2 C terminus-associated protein|arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2|centaurin, beta 3|development and differentiation enhancing factor 2|development and differentiation-enhancing factor 2|paxillin-associated protein with ARF GAP activity 3|pyk2 C-terminus-associated protein protein-coding 1346642 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 18400762,16737952,16710414,15489334,14702039,14654939,12477932,20510928 55616 NM_017707,AL021154,AL357134,CH471134,AB056749,AK000206,AK000253,AK074319,AK092291,AK295100,AK299359,BC023519,BC052305,BC060786,CR609624,NM_001143778 NP_060177,CAI19596,CAI22177,EAW95050,EAW95051,EAW95052,EAW95053,BAB85677,BAA91008,BAA91033,BAG52522,BAG58136,BAG61354,AAH23519,AAH52305,AAH60786,Q6PJ46,Q8TDY4,Q9NXH7,NP_001137250 Hs.437379 ACAP4|CENTB6|DDEFL1|FLJ20199|UPLC1 ARF6 GTPase-activating protein|ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1|arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3|centaurin, beta 6|development and differentiation enhancing factor-like 1|development and differentiation-enhancing factor-like 1|protein up-regulated in liver cancer 1|up-regulated in liver cancer 1 (UPLC1) protein-coding 1321850 ASB1 ankyrin repeat and SOCS box-containing 1 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq] 1580863 11111040,18029348,15489334,16325183,12477932,12076535,11509662,10574461,9110174,8619474,20237496 51665 NM_001040445,AC016999,CH471063,AB032972,AF055024,AF156777,BC014528,CR625517 NP_001035535,AAX88934,EAW71158,EAW71159,BAA86460,AAD41894,AAH14528,Q9Y576 Hs.516788 ASB-1|KIAA1146|MGC11165 OTTHUMP00000202578|ankyrin repeat and SOCS box protein 1|ankyrin repeat and SOCS box-containing 1 protein-coding 1353086 ASB10 ankyrin repeat and SOCS box-containing 10 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq] 1580863 16344560,16325183,15489334,14702039,12690205,12076535,12477932 136371 NM_080871,NM_001142460,NM_001142459,AACC02000108,AC010973,CH471173,AF417920,AK055536,AK125565,AK315114,BC126351,DA898875,NG_017016 NP_543147,NP_001135932,NP_001135931,EAL24504,EAW54020,EAW54021,EAW54022,AAL59159,BAC86204,AAI26352,Q8WXI3 Hs.647081 OTTHUMP00000211301|ankyrin repeat and SOCS box protein 10|ankyrin repeat and SOCS box-containing 10 protein-coding 1344351 ASB11 ankyrin repeat and SOCS box-containing 11 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,16893969,15489334,12477932,12076535 140456 NM_080873,NM_001012428,NG_012627,AC095351,CH471074,AF425642,BC069340,BC103873,BC103874,BC103875,BX537853,BX537857,NM_001201583 NP_543149,NP_001012428,EAW98877,EAW98878,AAL60519,AAH69340,AAI03875,AAI03876,CAD97861,CAD97864,Q7Z667,Q7Z670,Q8WXH4,NP_001188512 Hs.352183 DKFZp779E2460|MGC119168|MGC119169 ASB-11|OTTHUMP00000215047|ankyrin repeat and SOCS box protein 11|ankyrin repeat and SOCS box-containing 11|ankyrin repeat and SOCS box-containing protein 11, isoform a|ankyrin repeat domain-containing SOCS box protein ASB11 protein-coding 1349928 ASB12 ankyrin repeat and SOCS box-containing 12 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. The SOCS box domain has not yet been annotated for this encoded protein. [provided by RefSeq] 1580863 15772651,15489334,14702039,12477932,12076535,16344560,20211142,7566098,16325183 142689 AL356317,CH471132,AF403030,AK096896,AK300684,BC069436,BC069555,BC093883,BC104946,NG_012823,NM_130388,AA349954,DA560184 CAI39932,EAX05414,AAL57349,BAC04888,BAG62367,AAH69436,AAH93883,AAI04947,Q8WXK4,NP_569059,AAH69555 Hs.56281 FLJ39577 OTTHUMP00000023429|ankyrin repeat and SOCS box protein 12|ankyrin repeat and SOCS box-containing 12|ankyrin repeat domain-containing SOCS box protein Asb-12 protein-coding 1321264 ASB13 ankyrin repeat and SOCS box-containing 13 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length sequences are not known. [provided by RefSeq] 1580863 16169070,16325183,16189514,15489334,15342556,15164054,14702039,12477932,12076535,20677014 79754 NR_037164,NR_024581,NM_024701,AL365356,CH471072,AF403031,AI377400,AK023196,AK091935,AK292071,BC012056,BG436652,BP249999,CR457302,CR612381,CR621326 NP_078977,CAH72614,EAW86435,EAW86436,EAW86437,EAW86438,EAW86439,AAL57350,BAB14456,BAF84760,AAH12056,CAG33583,Q8WXK3 Hs.445899 FLJ13134|MGC19879 ankyrin repeat and SOCS box protein 13|ankyrin repeat and SOCS box-containing 13|ankyrin repeat domain-containing SOCS box protein Asb-13 protein-coding 1343044 ASB14 ankyrin repeat and SOCS box-containing 14 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 16325183,12477932,12076535,10737800 142686 AL832472,BC114953,BE004392,AF403032,NM_130387,NM_001142733,AC093928,CH471055 AAL57351,AAI14954,A6NK59,Q1RMF3,NP_569058,NP_001136205,EAW65337,EAW65338 Hs.665154,Hs.728410 DKFZp313L0121 ankyrin repeat and SOCS box protein 14|ankyrin repeat and SOCS box-containing 14|ankyrin repeat domain-containing SOCS box protein Asb-14 protein-coding 1346506 ASB15 ankyrin repeat and SOCS box-containing 15 1580863 17672918,16325183,16012773,14702039,12477932,12076535 142685 NM_080928,AC006333,CH236947,CH471070,AF403033,AF428257,AK125360,BC100874,BC100875,BC100876,BC100877,CR749595 NP_563616,AAQ96857,EAW83594,EAW83595,EAW83596,AAL57352,AAP97297,BAC86146,AAI00875,AAI00876,AAI00877,AAI00878,CAH18393,Q7Z4V1,Q8WXK1,AAI66689 Hs.83916 DKFZp779M1258|FLJ43370 ASB-15|OTTHUMP00000211495|OTTHUMP00000211496|OTTHUMP00000211497|OTTHUMP00000211498|ankyrin repeat and SOCS box protein 15|ankyrin repeat and SOCS box-containing 15 protein-coding 1313384 ASB16 ankyrin repeat and SOCS box-containing 16 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq] 1580863 16325183,15489334,14702039,12477932,12076535,17474147,20379614 92591 NM_080863,AC004596,CH471178,AF403034,AK054727,AK314595,AY557346,BC075088,BC118584,BC118585 NP_543139,EAW51627,EAW51628,AAL57353,BAB70800,BAG37167,AAS67920,AAH75088,AAI18585,AAI18586,Q147X6,Q6Q622,Q96NS5 Hs.534517 FLJ30165|MGC141876|MGC141877 ankyrin repeat and SOCS box protein 16|ankyrin repeat and SOCS box-containing 16|ankyrin repeat and SOCS box-containing protein 16 protein-coding 1343895 ASB17 ankyrin repeat and SOCS box-containing 17 1580863 16325183,15489334,15204681,14702039,12477932,12076535,17207965 127247 HC006782,HC044789,NM_080868,NR_026546,AC092813,AL445464,CH471059,AF403035,AF429968,AK098606,BC022517,BC036573 CBH19197,CBH30724,NP_543144,CAH71811,EAX06391,AAL57354,AAN85310,BAC05350,AAH22517,AAH36573,Q4G1B1,Q8WXJ9,ADQ32483 Hs.125423 Asb-17 ankyrin repeat and SOCS box protein 17|ankyrin repeat and SOCS box-containing 17 protein-coding 1602398 ASB18 ankyrin repeat and SOCS box-containing 18 16325183,12076535,20339536 401036 NM_212556,AC019068,AC079135,AK123854,BX647589 NP_997721,BAC85710,Q6ZVZ8,AAI72346 Hs.639909 ASB-18|DKFZp313I1130 ankyrin repeat and SOCS box protein 18|ankyrin repeat and SOCS box-containing 18 protein-coding 1315012 ASB2 ankyrin repeat and SOCS box-containing 2 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. This gene is induced by all-trans retinoic acid. In myeloid leukemia cells, the expression of this encoded protein has been shown to induce growth inhibition and chromatin condensation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq] 1580863 18799729,19376791,21119685,18029348,16325183,15590664,15489334,15231748,15014966,14702039,12477932,12076535,11682484,11566180,11111040,9419338 51676 AB488462,NM_001202429,AL079302,AL132642,CH471061,AB056723,AF159164,AJ251238,AK002049,AK057078,AK093271,AK303686,AK315628,NM_016150,AL137735,BC032354 BAI77868,NP_001189358,NP_057234,EAW81540,EAW81541,EAW81542,EAW81543,BAB64532,AAD45345,CAC17765,BAG51006,BAG51858,BAG64678,BAG37996,CAB70899,AAH32354,Q96Q27,ABM82256,ABM85439 Hs.510327 ASB-2|MGC40044 ankyrin repeat and SOCS box protein 2|ankyrin repeat and SOCS box-2 containing protein|ankyrin repeat and SOCS box-containing protein 2a|ankyrin repeat-containing protein ASB-2 protein-coding 1318243 ASB3 ankyrin repeat and SOCS box-containing 3 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq] 15899873,15489334,14702039,12477932,12076535,11509662,11111040,9373149,8125298,17353931,16344560 51130 BC009569,BC110915,CR590535,NM_016115,AC007883,AC008064,CH471053,AB209795,AF156778,AK000985,AK001283,AK056069,AK222595,AK222715,AK303133,BC006488,NM_145863,DA038561,DB558848,NM_001201965 AAH09569,Q2TAI4,Q53H66,Q53HI5,Q59EL6,Q9Y575,ABM84179,ABM87581,NP_665862,NP_057199,AAY24350,AAX93180,EAX00167,EAX00168,EAX00169,EAX00170,EAX00171,BAD93032,AAD41895,BAA91455,BAA91599,BAG51615,BAD96315,BAD96435,BAG64238,AAH06488,NP_001188894 Hs.40763 ASB-3|FLJ10123|FLJ10421|MGC12531|MGC132002|MGC996 OTTHUMP00000200662|ankyrin repeat and SOCS box protein 3|ankyrin repeat and SOCS box-containing 3 protein-coding 1348810 ASB4 ankyrin repeat and SOCS box-containing 4 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq] 1580863 15929745,12853948,12690205,12477932,12076535,11111040,11076863,17636018 51666 NM_016116,NM_145872,AC003079,CH236949,CH471091,AF156779,BC025024,BC113479,BC113481 ADR83137,NP_057200,NP_665879,AAB83943,EAL24129,EAL24130,EAW76760,EAW76761,EAW76762,AAD41896,AAH25024,AAI13480,AAI13482,Q14D68,Q8TBT2,Q9Y574,AAI11595 Hs.666357 ASB-4|MGC142039|MGC142041 ankyrin repeat and SOCS box protein 4|ankyrin repeat and SOCS box-containing 4 protein-coding 1352084 ASB5 ankyrin repeat and SOCS box-containing 5 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq] 1580863 20379614,15489334,14702039,12477932,12076535,17207965 140458 NM_080874,AC019163,AC093605,CH471056,AK096441,AK098693,AY057053,BC065710,BX647857 NP_543150,EAX04720,BAC04791,BAC05382,AAL18248,AAH65710,CAI46074,Q5HYF3,Q8N7B5,Q8WWX0,ADQ32071 Hs.591712 ASB-5 OTTHUMP00000218997|SOCS box protein ASB-5|ankyrin repeat and SOCS box protein 5|ankyrin repeat and SOCS box-containing 5 protein-coding 1318216 ASB6 ankyrin repeat and SOCS box-containing 6 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. [provided by RefSeq] 16325183,15489334,15231829,14702039,12477932,12076535,9373149,8125298,17207965,16344560 140459 NM_017873,AL590369,CH471090,AK000555,AK023004,AK093539,AK225618,AK292807,AK299193,NM_177999,AL390135,BC001719,BC065913,BX648923,CR627462,DA953275,NM_001202403 NP_821066,NP_060343,CAI14509,CAI14510,EAW87896,EAW87897,EAW87898,EAW87899,EAW87900,BAA91250,BAB14355,BAF85496,BAG61236,AAH01719,AAH65913,CAH10563,Q6AW82,Q9BV15,Q9NWX5,ACE87335,ACE86653,ADQ32604,NP_001189332 Hs.125037 FLJ20548|MGC1024 ASB-6|ankyrin repeat and SOCS box protein 6|ankyrin repeat and SOCS box-containing 6 protein-coding 1313017 ASB7 ankyrin repeat and SOCS box-containing 7 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq] 18029348,15203218,14702039,12477932,12076535,9373149,8125298,16325183,17207965 140460 BQ933001,CD632230,NM_024708,AC090695,CH471101,AA830153,AF451994,AK026204,AK057921,AK094123,AK222958,AK222974,AK289860,BC025252,BC063581,NM_198243 Q53GF7,Q9H672,NP_937886,NP_078984,EAX02274,EAX02275,EAX02276,EAX02277,AAP97683,BAB15392,BAD96678,BAD96694,BAF82549,AAH63581,ADQ32570 Hs.31845 FLJ22551|FLJ25192 ASB-7|ankyrin repeat and SOCS box protein 7|ankyrin repeat and SOCS box-containing 7 protein-coding 1319481 ASB8 ankyrin repeat and SOCS box-containing 8 1580863 17207965,18029348,15489334,14702039,12559969,12477932,12076535,16341674,20211142 140461 NM_024095,AC074029,CH471111,AF464877,AK024908,AK125596,AK289957,AK297013,BC001321,BM837218,BQ009637,CR457336 ADQ31852,NP_077000,EAW57976,AAQ04830,BAB15033,BAC86214,BAF82646,BAG59546,AAH01321,CAG33617,Q6IA19,Q6ZUK8,Q9H765 Hs.432699 FLJ21255|MGC5540|PP14212 ASB-8|ankyrin repeat and SOCS box protein 8|ankyrin repeat and SOCS box-containing 8 protein-coding 1344669 ASB9 ankyrin repeat and SOCS box-containing 9 1580863 16325183,16344560,17148442,20302626,19275750,18680464,18029348,16189514,15489334,14702039,12477932,12076535,20211142,20878058 140462 DA943920,NG_016218,NM_001168530,NM_001168531,NM_001031739,NM_024087,AC095351,CH471074,AK000643,AK292270,AL080091,AY337578,BC001244,BC013172 NP_001162002,NP_001162003,NP_001026909,EAW98870,EAW98871,EAW98872,EAW98873,EAW98874,EAW98875,EAW98876,BAA91302,BAF84959,CAB45706,AAQ17469,AAH01244,AAH13172,Q7Z4A2,Q96DX5,Q9BVF5,NP_076992 Hs.19404 DKFZp564L0862|FLJ20636|MGC4954 ASB-9|ankyrin repeat and SOCS box protein 9|ankyrin repeat and SOCS box-containing 9|ankyrin repeat and suppressor of cytokine signaling box protein 9 protein-coding 4140134 ASB9P1 ankyrin repeat and SOCS box-containing 9 pseudogene 1 728619 AC106028,BG059734,NR_033769 Hs.684129 pseudo 1350086 ASCC1 activating signal cointegrator 1 complex subunit 1 1580863 19074642,15489334,14702039,12477932,12077347,10810093,10567404,17207965,16344560,16385451,19680556 51008 AC022392,AL607035,CH471083,AA805081,AF132952,AK023436,AK094170,AK096409,AK124364,AK298302,AL359339,AY013290,BC012291,NM_015947,CR602037,CR604423,CR619307,CR619850,CR624504,AW006945,DA297980,DA942671,NM_001198798,NM_001198799,NM_001198800 NP_057031,CAI15907,CAI15908,EAW54444,EAW54445,EAW54446,EAW54447,AAD27727,BAG51193,BAC04299,BAG53282,BAH12754,AAG45476,AAH12291,Q8N9N2,ADQ32766,NP_001185727,NP_001185728,NP_001185729 Hs.500007 ASC1p50|CGI-18|RP11-150D20.4 ASC-1 complex subunit P50|OTTHUMP00000019781|OTTHUMP00000019782|OTTHUMP00000019784|activating signal cointegrator 1 complex subunit 1|trip4 complex subunit p50 protein-coding 1347917 ASCC2 activating signal cointegrator 1 complex subunit 2 18029348,16169070,15489334,15231748,14702039,12477932,12077347,10591208,9847074,9373149,8125298,16009131 84164 NM_032204,AC004882,CH471095,Z82171,AK022886,AK025241,AK222723,AK223033,AL096741,AY013289,BC025368,BC032760,CR593980,CR601965,CR602059,CR622774,CR623602,AK303257 NP_115580,EAW59842,EAW59843,EAW59844,EAW59845,EAW59846,EAW59847,EAW59848,CAI95602,BAB14293,BAB15089,BAD96443,BAD96753,CAH56409,AAG45475,AAH25368,Q53G98,Q53H58,Q659F6,Q9H1I8,BAH13926 Hs.517438 ASC1p100 ASC 1 complex subunit P100|ASC-1 complex subunit P100|OTTHUMP00000199727|activating signal cointegrator 1 complex subunit 2|trip4 complex subunit p100 protein-coding 1344771 ASCC3 activating signal cointegrator 1 complex subunit 3 1580863 15231748,19615732,20379614,20453000,11230166,11076863,10218103,18029348,11256614,16381901,15489336,15146197,14702039,12477932,12077347,19913121,20628086 10973 NM_006828,NM_022091,AL121965,AL133338,AL356122,AL513207,AL591585,CH471051,Z86062,AI803859,AJ223948,AK023189,AK299117,AK307903,AK315197,AL834463,AY013288,BC014358,BC026066,BC039857,BC050681,BC125211,BC125212,BC130038,CN255848 NP_006819,NP_071374,CAI19627,CAC07337,CAI21439,CAI16190,CAH73862,EAW48449,EAW48450,CAI19454,CAA11679,BAG61172,BAG37637,CAD39122,AAG45474,AAH26066,AAH50681,AAI25212,AAI25213,Q4G1A0,Q8N3C0,Q9H5A2,CAL38260,AAI50216 Hs.486031 ASC1p200|DJ467N11.1|HELIC1|MGC26074|RNAH|dJ121G13.4 ASC-1 complex subunit P200|B630009I04Rik|OTTHUMP00000016904|OTTHUMP00000016905|RNA helicase family|activating signal cointegrator 1 complex subunit 3|helicase, ATP binding 1|trip4 complex subunit p200 protein-coding 736393 ASCL1 achaete-scute complex homolog 1 (Drosophila) This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq] 1580863,2314146,2314147,1300289 15272537,15240857,14759067,14668716,14532329,12477932,12050665,11948117,11940670,11825874,11309412,11171979,10656681,9197246,9186001,9126746,8662987,8595908,11564735,20659153,10903890,8390674,19176379,19097999,18587322,18587321,18585058,18491256,18339843,18311112,17923682,17507989,16899352,16344560,16103883,16029117,16021468,15701827,15489334,20206680,11736660,12000752,12858003,15492808,16160079,18802035,19008346,19744316,20097173,20124469,20515335,8900141,8948587,20538960,20677557 2314146,2314147,1300289 429 NM_004316,NG_008950,AC026108,CH471054,AK290539,AW071836,BC001638,BC002341,BC003134,BC004425,BC031299,CF454566,CR615179,DA005289,L08424 NP_004307,EAW97703,BAF83228,AAH02341,AAH03134,AAH04425,AAH31299,AAA58376,P50553,ABM85497,ABW03754 Hs.703025 ASH1|HASH1|MASH1|bHLHa46 ASH-1|achaete scute protein|achaete-scute complex homolog-like 1 (drosophila)|achaete-scute complex-like 1|achaete-scute homolog 1|class A basic helix-loop-helix protein 46 protein-coding 735625 ASCL2 achaete-scute complex homolog 2 (Drosophila) This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq] 1580863 20479215,8751384,17165436,16568095,14561729,12917334,12477932,12099555,11440538,10757985,9610003,9175731,12670868,12482968 430 NM_005170,AC129929,AF442769,S82817,U77629,BC028140,BC057801,BC136561,BC136567,CR603858 NP_005161,AAL35362,AAB39362,AAB86993,AAH57801,AAI36562,AAI36568,Q99929 Hs.152475 ASH2|HASH2|MASH2|bHLHa45 ASH-2|achaete-scute complex homolog-like 2 (drosophila)|achaete-scute complex-like 2|achaete-scute homolog 2|class A basic helix-loop-helix protein 45|mammalian achaete/scute homologue 2 protein-coding 1315779 ASCL3 achaete-scute complex homolog 3 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM] 1580863 15475265,11784080,11528127,18029348,20211142 56676 NM_020646,AB046450,AC026894,AJ400877,CH471064 AAI46583,NP_065697,BAB83913,CAB92288,EAW68610,Q9NQ33,AAI41566 Hs.501852 HASH3|SGN1|bHLHa42 ASH-3|achaete-scute homolog 3|bHLH transcription factor Sgn-1 (Salivary Glands 1)|bHLH transcriptional regulator Sgn-1|class A basic helix-loop-helix protein 42 protein-coding 1316784 ASCL4 achaete-scute complex homolog 4 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM] 15475265,14516699,12617822,12477932,19166906 121549 NM_203436,AC007622,AI290227,AY238895,BC128211,BC128212,BK000275 NP_982260,AAP69222,AAI28212,AAI28213,DAA01055,Q6XD76 Hs.149910 HASH4|bHLHa44 ASH-4|achaete-scute complex-like 4|achaete-scute complex-like 4 (drosophila)|achaete-scute homolog 4|achaete-scute-like protein 4|class A basic helix-loop-helix protein 44|class II bHLH protein ASCL4 protein-coding 1603722 ASCL5 achaete-scute complex homolog 5 (Drosophila) 647219 XM_001719321,XM_940966,XM_001718227,AL139159 XP_001719373,XP_946059,XP_001718279,Q7RTU5 Hs.721460 bHLHa47 ASH-5|achaete-scute complex homolog 5 (Drosophila)|achaete-scute homolog 5|class A basic helix-loop-helix protein 47|hASH5 protein-coding 1351055 ASD1 atrial septal defect 1 9610535 431 1323657 ASF1A ASF1 anti-silencing function 1 homolog A (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq] 10759893,11897662,19029251,18971269,18378699,18096807,17328667,17293877,17292837,17054786,16980972,16344560,15840725,15664198,15621527,15213445,14718166,12842904,12477932,12093919,11470414,11230166,11042152,10810093,16189514,19862764,20308539,17207965,20800603,11172707,11256614,16169070,19305408,20016786,20227376 25842 NM_014034,AL132874,CH471051,AA481056,AB028628,AF151856,AF161495,AF279306,AK025738,AL050261,BC010878,CR457347,CR610395,DA902777 NP_054753,EAW48193,BAA96542,AAD34093,AAF29110,AAK82972,BAB15228,CAB43363,AAH10878,CAG33628,Q9Y294,ADQ32460,CAX30828 Hs.292316 CGI-98|CIA|DKFZp547E2110|HSPC146 CCG1-interacting factor A|anti-silencing function 1A|anti-silencing function protein 1 homolog A|hAsf1|hAsf1a|hCIA|histone chaperone ASF1A protein-coding 1312634 ASF1B ASF1 anti-silencing function 1 homolog B (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq] 19913121,20628086,8125298,18378699,18096807,17353931,17328667,17054786,15664198,15146197,15020040,14702039,12842904,12477932,11897662,11470414,9373149,20133788,20227376,20016786 55723 NM_018154,AC022098,CH471106,AB104486,AF279307,AK001288,AK001466,AK223080,AK302134,BC007726,BC010014,BC036521,CN426445,CR457235,CR594548,CR598409,CR600762,CR601959,CR602589,CR604970,CR605712,CR606144,CR607121,CR608925,CR609105,CR616124,CR617345,CR617558,CR621931,CR622222,CR622368,CR624719 NP_060624,EAW84401,EAW84402,BAC87709,AAK82973,BAA91602,BAA91708,BAD96800,BAG63508,AAH07726,AAH10014,AAH36521,CAG33516,Q9NVP2,ACT64480,ACT64481 Hs.26516 CIA-II|FLJ10604 CCG1-interacting factor A-II|anti-silencing function protein 1 homolog B|hAsf1|hAsf1b|hCIA-II|histone chaperone ASF1B protein-coding 737103 ASGR1 asialoglycoprotein receptor 1 Partially deglycosylated plasma glycoproteins and immunoglobulin IgA2 allotypes are efficiently and specifically removed from circulation by a receptor-mediated process. The asialoglycoprotein receptor binds to desialylated (galactosyl-terminal) glycoproteins. It transports these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting organelle where the receptor and ligand dissociate. Then the receptor is recycled back to the cell surface and the ligand is transported to the lysosomes for degradation. [provided by RefSeq] 1580863 8439566,11543633,10734069,15489334,12477932,12477859,12370180,12359251,12171918,12167617,12119473,11943787,10891274,10859341,3753585,2982798,2834401,1935897,1774077,16008586,20364278,16341674,20886072,19520807,15946216,16475991,18855599,1924301,19576873,19663694,19725223,20703846,21063834,21207081,7843709,7844558,9349295 432 NM_001671,AC120057,CH471108,AB070933,AK124286,AK308375,AK308677,BC032130,BQ653541,BT019873,CR542052,M10058,FJ410292,BM818592,NM_001197216 NP_001662,EAW90256,EAW90257,EAW90258,BAB83508,AAH32130,AAV38676,CAG46849,AAA51785,P07306,Q6FGQ5,ABM82956,ABM86147,ACQ90237,NP_001184145 Hs.12056 ASGPR|ASGPR1|CLEC4H1|HL-1|Hs.12056 ASGP-R 1|ASGPR 1|C-type lectin domain family 4 member H1|C-type lectin domain family 4, member H1|HL-1|asialoglycoprotein receptor 1|hepatic asialoglycoprotein receptor 1|hepatic lectin H1 protein-coding 1343618 ASGR2 asialoglycoprotein receptor 2 This cell surface receptor binds to galactose-terminated glycoproteins. It transports these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting organelle where the receptor and ligand dissociates. Then the receptor is recycled back to the cell surface. There are four alternatively spliced transcript variants of this gene. [provided by RefSeq] 1580863 12477932,12171918,12167617,12119473,12089159,11943787,8397210,7843709,2834401,1924301,1597447,1371982,3863106,11543633,16335952,15946216,15489334,20237496,19520807,18029348,10859341,12359251,12477859,18855599,19576873,19663694,20364278,20703846,21063834,21207081,7844558,9349295 433 BM561839,NM_001201352,NM_080912,NM_001181,NM_080913,NM_080914,AC120057,CH471108,AF529374,AK310123,BC017251,BX483468,CR594935,DC315727,M11025,U97197,X55283,X55284,AK303787 NP_001188281,NP_550434,NP_001172,NP_550435,NP_550436,EAW90259,EAW90260,EAW90261,EAW90262,EAW90263,EAW90264,AAQ09608,AAH17251,AAB59519,AAB58308,CAA38997,P07307,Q7Z4G9,ABM83578,ABM86817,BAG64744 Hs.654440 ASGP-R|ASGP-R2|ASGPR2|CLEC4H2|FLJ60040|HBXBP|HL-2|Hs.1259|L-H2 ASGP-R 2|ASGPR 2|C-type lectin domain family 4 member H2|C-type lectin domain family 4, member H2|HBxAg-binding protein|HL-2|asialoglycoprotein receptor 2|asialoglycoprotein receptor H2|hepatic lectin H2 protein-coding 1314918 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq] 1580863 10860993,18029348,17923682,17203973,16710414,16545939,16344560,15231748,15146197,10718198 55870 NM_018489,AL139410,AL353807,CH471121,AB037841,AB209068,AF257305,AI912552,AK304873,AK307595,BQ883186,CN365042,DA236222 NP_060959,CAI12716,CAI12722,CAI13211,CAI13212,EAW53068,BAA92658,BAD92305,AAF68983,BAG65610,Q9NR48,AAI72595 Hs.491060 ASH1|ASH1L1|FLJ10504|KIAA1420|KMT2H ASH1-like protein|absent small and homeotic disks protein 1 homolog|lysine N-methyltransferase 2H|probable histone-lysine N-methyltransferase ASH1L protein-coding 1313775 ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) 1580863 12670868,10393421,11466562,14992727,15199122,19131338,18245475,16892064,16189514,15761153,15489334,15231748,12482968,12477932,16169070,16510874,17998332,16253997,16603732,17355966,17761849,18082152,18680430,19187761,19433449,19556245,19896696,20064463,20085832,20093773,20150277,20208542 9070 NM_004674,NM_001105214,AB022785,AC084024,AP006545,CH471080,AB020982,AF056717,AF056718,AK291750,AK291938,AK293699,AK298483,AK311336,AW962440,BC015936,CA417078,CR595873,CR602034,DC326351,DC353644,DC396707 NP_004665,NP_001098684,BAA74520,EAW63336,EAW63337,EAW63338,EAW63339,EAW63340,BAA35127,AAC13563,AAC13564,BAF84439,BAF84627,BAG57134,BAG60693,AAH15936,Q9UBL3 Hs.521530 ASH2|ASH2L1|ASH2L2|Bre2 ASH2-like protein|set1/Ash2 histone methyltransferase complex subunit ASH2 protein-coding 1343075 ASH2LP1 ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1 9074928 266703 NG_000002,D87009 pseudo 69199 ASIP agouti signaling protein, nonagouti homolog (mouse) In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq] 1625724,2313999,2314006,1580863 11447115,9761782,9058374,7757071,7937887,19384953,19382693,18637131,18563784,18488028,18488027,17952075,17525122,16704456,16091846,15998953,15726415,15701517,15489334,15016309,14633851,12519127,12477932,12055320,11833005,11780052,19710684,20831872,19913121,20585627,20628086 1625724,2313999,2314006 434 NM_001672,NG_011439,AL035458,CH471077,L37019,U12775,BC104238,BC104239 NP_001663,CAB96679,EAW76282,AAA89208,AAB61247,AAI04239,AAI04240,P42127 Hs.659995 AGSW|AGTI|AGTIL|ASP|MGC126092|MGC126093|SHEP9 agouti (mouse)-signaling protein|agouti signaling protein, nonagouti homolog|agouti switch protein|agouti-signaling protein|nonagouti homolog 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431,2316052 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H,GLUCO208_H protein-coding 731559 ASL argininosuccinate lyase This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1300048,2314010,2300098,1599263,1302509,1599265,734610,1599267,1580863,70249,4142785,4110824 282632,17326097,16189514,15489334,12512996,12477932,12408190,12384776,11747433,11747432,9256435,6784763,3463959,3391281,3368457,2644168,2263616,2045097,1705937,19703900,20739017 2314010,2300098,1599263,1302509,1599265,734610,1599267,70249,4142785,4110824 435 CR607016,CR608069,CR612547,CR613134,CR618289,CR618306,CR618960,CR619001,CR619700,CR626571,J03058,M14218,M57638,Y00753,NM_001024943,NM_001024944,NM_001024946,NG_009288,AC068533,AF376770,CH236961,CH471140,M21007,AI469765,AK300519,AK310912,AK316334,AY203938,BC008195,BC033146,BQ949510,BU634268,BX328836,CR591306,CR591307,CR596097,CR596171,CR603567,CR603715,NM_000048 AAA51787,AAA51786,AAA51788,CAA68722,P04424,Q6XYD2,NP_000039,NP_001020114,NP_001020115,NP_001020117,AAL57276,EAX07944,EAX07945,EAX07946,AAA35566,BAG62231,BAH14705,AAP34461,AAH08195,AAH33146 Hs.632015 ASAL OTTHUMP00000210327|argininosuccinase|argininosuccinate lyase|arginosuccinase protein-coding 1352939 ASLL argininosuccinate lyase-like 436 NG_002637,AP000346 ASLL pseudo 1350953 ASMD anterior segment mesenchymal dysgenesis 437 1353638 ASMT acetylserotonin O-methyltransferase 1580863 8397829,17957233,17505466,15772651,15489334,12734775,12477932,11339514,8098975,7989373,1878930,20377855,20418777,20433639,20442744 438 NM_004043,AL683807,CH471074,U11098,AK314922,BC001620,M83779,U11090,U11091,NG_016337,NM_001171038,NM_001171039 NP_004034,EAW98685,EAW98686,AAA75289,AAA75290,AAA75291,BAG37430,AAH01620,AAA17020,AAA58582,AAA58583,P46597,CAI41502,CAI41503,CAI41504,CAI41505,NP_001164509,NP_001164510 Hs.522572 ASMTY|HIOMT|HIOMTY acetylserotonin N-methyltransferase|acetylserotonin methyltransferase (Y chromosome)|hydroxyindole O-methyltransferase protein-coding 1315744 ASMTL acetylserotonin O-methyltransferase-like 1580863 16189514,15489334,14702039,12477932,9373149,8889548,8125298,9736779,17081983,16344560 8623 NM_004192,AL683870,CH471074,Y15521,AK001090,AK090498,AK225770,AK297805,AK299231,AK301844,BC002508,BC010089,BM021926,BM129217,BU688748,CR602244,CR605489,CR622364,DA005122,DA301876,DA904467,NG_016772,NM_001173473,NM_001173474 NP_004183,CAI39847,CAI39848,EAW98682,CAA75675,CAA75676,BAG50855,BAC03468,BAG60143,BAG61263,BAG63287,AAH02508,AAH10089,O95671,NP_001166944,NP_001166945 Hs.533514 ASMTLX|ASMTLY|ASTML N-acetylserotonin O-methyltransferase-like protein|acetylserotonin N-methyltransferase-like protein-coding 1317371 ASNA1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) ASNA1 is the human homolog of the bacterial arsA gene. In E. coli, ArsA ATPase is the catalytic component of a multisubunit oxyanion pump that is responsible for resistance to arsenicals and antimonials.[supplied by OMIM] 1580863 8884272,9736449,17382883,17289575,15489334,12477932,10696239,9712828,9373149,8125298,18667436,19615732,19724867,20375064,20516149 439 NM_004317,AC018761,AY304483,CH471106,AF047469,AK223363,AK291855,AK293588,BC002651,BG426136,CR596298,CR600502,CR604808,CR608428,CR609325,CR614440,CR615804,CR616471,U60276 NP_004308,AAP45050,EAW84303,AAC03551,BAD97083,BAF84544,BAG57056,AAH02651,AAC50731,O43681 Hs.465985 ARSA-I|ARSA1|GET3|MGC3821|TRC40 ATPase ASNA1|arsenical pump-driving ATPase|arsenite-stimulated ATPase|golgi to ER traffic 3 homolog|hARSA-I|hASNA-I|transmembrane domain recognition complex 40 kDa ATPase subunit|transmembrane domain recognition complex, 40kDa protein-coding 1343754 ASNS asparagine synthetase The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. There are three alternatively spliced transcript variants encoding the same protein described for this gene. [provided by RefSeq] 1580863,2316006 2564390,2569668,2886907,16023613,10085239,17409444,19414379,19054556,18940792,18852115,18840095,17380207,17276738,17088436,16598302,16344560,15674423,15489334,15385533,12949534,12853948,12690205,12477932,12351626,12097650,11960987,11867623,9847074,8093451,7904551,6137879,3470743,2714790,2573597,2565875,16169070,19035175,20562859 2316006 440 DA661624,DA961373,DC297828,M15798,M27396,NM_183356,NM_133436,AC005326,AC079781,CH236949,CH471091,L35946,M27054,AK000379,AK302189,AK302242,AK316224,BC008723,BC014621,BC030024,BG718826,BT007113,BX104871,CR600992,CR603522,CR607694,NM_001673,AA948141,DA160359,DB483248,NM_001178075,NM_001178076,NM_001178077 AAA36781,AAA51789,P08243,ABM83944,ABM87262,NP_001664,NP_899199,NP_597680,AAQ96856,EAL24115,EAW76723,EAW76730,EAW76731,EAW76732,EAW76733,AAA52756,AAA63266,BAG63553,BAG63594,BAH14595,AAH08723,AAH14621,AAP35777,NP_001171546,NP_001171547,NP_001171548 Hs.489207 TS11 OTTHUMP00000204938|OTTHUMP00000204939|OTTHUMP00000204940|OTTHUMP00000204942|TS11 cell cycle control protein|asparagine synthetase|asparagine synthetase [glutamine-hydrolyzing]|glutamine-dependent asparagine synthetase protein-coding 1603641 ASNSD1 asparagine synthetase domain containing 1 16534843,16344560,12477932 54529 NM_019048,AC012488,CH471058,AB075481,AK000759,AY116969,BC001243,CR594310,CR594492,CR621025,CR621606,DA771653 NP_061921,AAX88843,EAX10898,EAX10899,EAX10900,BAE45745,BAA91364,AAM77212,AAH01243,Q9NWL6 Hs.101364 FLJ20752|NBLA00058|NS3TP1 HCV NS3-transactivated protein 1|OTTHUMP00000205600|asparagine synthetase domain-containing protein 1 protein-coding 1346746 ASNSL1 asparagine synthetase-like 1 389652 NG_007178,AC093368,AC104576 ASNSL1 pseudo 1352956 ASNSL2 asparagine synthetase-like 2 442 4889736 ASNSP3 asparagine synthetase pseudogene 3 100423061 AL355338,NG_021205 pseudo 4889697 ASNSP4 asparagine synthetase pseudogene 4 100419423 AC104576,NG_026098 pseudo 1350952 ASPA aspartoacylase (Canavan disease) This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1599291,1599298,1601247,1580863 8252036,18293939,18264947,17391648,17194761,17027983,16935940,16669630,16437572,16189514,15489334,14699612,12706335,12638939,12477932,12205125,10909858,10837925,10564886,9407392,8659549,8088831,8023850,7668285,7599639,3116332,27051,18029348,20201926 1599291,1599298,1601247 443 NM_000049,NM_001128085,AC025125,CH471108,S74727,AK312901,BC010941,BC029128,CR541908,S67156,NG_008399 NP_000040,NP_001121557,EAW90506,EAW90507,AAD14981,BAG35747,AAH29128,CAG46706,AAB29190,P45381,Q6FH48,ABM83005,ABM86198 Hs.171142 ACY2|ASP ACY-2|Canavan disease|aminoacylase 2|aminoacylase-2|aspartoacylase|aspartoacylase (Canavan disease)|aspartoacylase (aminoacylase 2, canavan disease) protein-coding 1605752 ASPDH aspartate dehydrogenase domain containing 12477932,8889548,17207965 554235 NM_001024656,NM_001114598,AC008743,CH471135,BC066359,BM695973,BM924033,BU729215 NP_001019827,NP_001108070,EAW71878,EAW71879,EAW71880,EAW71881,EAW71882,EAW71883,AAH66359,A6ND91,ADQ32053 Hs.436338 aspartate dehydrogenase domain-containing protein|putative L-aspartate dehydrogenase protein-coding 1344860 ASPG asparaginase homolog (S. cerevisiae) 12477932 374569 AW024833,BM544197,BX280385,BX407951,NM_001080464,AL136001,CH471061,BC035836,BC136637,BX247999 NP_001073933,EAW81859,AAH35836,AAI36638,CAD62331,Q86U10 Hs.146239 C14orf76 60 kDa lysophospholipase protein-coding 1323751 ASPH aspartate beta-hydroxylase This gene is thought to play an important role in calcium homeostasis. Alternative splicing of this gene results in five transcript variants which vary in protein translation, the coding of catalytic domains, and tissue expression. Variation among these transcripts impacts their functions which involve roles in the calcium storage and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation of aspartic acid and asparagine in epidermal growth factor-like domains of various proteins. [provided by RefSeq] 1580863,2325824 16341674,11007777,7821814,10974562,19200576,19087304,18288418,17156427,17020779,16949909,16673309,16564107,16341145,16154531,15302935,15302852,12713872,12477932,12130746,12118090,11069905,10956665,10767180,9287354,8823296,11991713,16344560,19663697,8889548,20562859,16712791,14702039,17207965 2325824 444 AF184241,AF224468,AF224469,AF289489,AF306765,AK291836,AK295528,AK298577,AK304314,BC015518,BC025236,BC066929,BC142967,BC144362,BC144363,BI793083,BM785890,CA420254,CB115846,CB122028,CR600401,CR614279,EU718494,FJ461473,N83868,S83325,U03109,NM_032468,NM_032466,NM_032467,NM_020164,AC067881,AC090094,CH471068,NM_004318,AF339775,BU623111,BU741737,BX102882,CR996516,DA136318,DN993915,NG_013210,NM_001164750,NM_001164751,NM_001164752,NM_001164753,NM_001164754,NM_001164755,NM_001164756,AK096383 EAW86848,EAW86849,AAG16983,AAF82246,AAF82247,AAG40811,AAG42257,BAF84525,BAG58441,BAG60769,BAG65166,AAH15518,AAH25236,AAH66929,AAI42968,AAI44363,AAI44364,ACD93450,ACK37363,AAB50779,AAA82108,Q12797,Q6PJH4,Q8TB28,Q9H291,AAI66658,NP_004309,NP_115857,NP_115855,NP_115856,NP_064549,EAW86840,EAW86841,EAW86842,EAW86843,EAW86844,EAW86845,EAW86846,EAW86847,NP_001158222,NP_001158223,NP_001158224,NP_001158225,NP_001158226,NP_001158227,NP_001158228,Q6NXR7,ADQ32246 Hs.332422 AAH|BAH|CASQ2BP1|HAAH|JCTN|junctin A beta H-J-J|ASP beta-hydroxylase|aspartyl/asparaginyl beta-hydroxylase|aspartyl/asparaginyl-beta-hydroxylase|cardiac junctin|humbug|junctate|peptide-aspartate beta-dioxygenase protein-coding 1605839 ASPHD1 aspartate beta-hydroxylase domain containing 1 15489334,12477932,9110174,8619474 253982 NM_181718,AC120114,CH471238,AF070642,BC009033,BC029136,BC034275,BC040933,BC085011,BC126319,BC126321,BC144152,BU193236 NP_859069,EAW79971,EAW79972,AAH09033,AAH29136,AAH34275,AAH40933,AAH85011,AAI26320,AAI26322,AAI44153,Q5U4P2,ADR83156 Hs.655761 aspartate beta-hydroxylase domain-containing protein 1 protein-coding 1601744 ASPHD2 aspartate beta-hydroxylase domain containing 2 15489334,15461802,14702039,12477932,10591208,20379614 57168 NM_020437,CH471095,Z99714,AK097157,AK315112,AL161993,BC036753,CR456391,CR603469 NP_065170,EAW59715,EAW59716,CAI17879,BAG53427,BAG37570,CAB82325,AAH36753,CAG30277,Q6ICH7,CAK54397,CAK54696 Hs.567547 FLJ39838 aspartate beta-hydroxylase domain-containing protein 2 protein-coding 1316111 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) The ASPM gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts (Bond et al., 2002 [PubMed 12355089]). The mouse gene Aspm is expressed specifically in the primary sites of prenatal cerebral cortical neurogenesis.[supplied by OMIM] 1599300,1580863 19808985,19054571,19028728,18728014,18676753,18636190,18541031,18452193,18331833,18204051,17849285,17604569,17566767,17534152,17251122,17220170,17090670,17081983,16687438,16565220,16151010,16141009,16123590,15972725,15489334,15355437,15045028,14704186,14702039,14574646,12571366,12477932,12355089,11283617,11078481,19332161,19353628,19770472,20080800,20508983,20308539 1599300 259266 NM_018136,AL353809,CH471067,AF509326,AK001379,AK001380,AK001411,AK095892,AK125107,AK226178,AY099890,AY099891,AY099892,AY099893,AY101201,AY367065,AY971955,AY971956,AY971957,BC015396,BC034607,BC040439,BF970006,BX648804,AL627208,NG_015867 NP_060606,CAH72550,CAH72552,EAW91270,EAW91271,EAW91272,EAW91273,EAW91274,AAN40011,BAG50897,BAA91676,BAG54144,AAM44119,AAM44120,AAM44121,AAM44122,AAM48745,AAR12641,AAY46813,AAY46814,AAY46815,AAH15396,AAH34607,Q4G1H0,Q4G1H1,Q4G1H2,Q5VYL4,Q8IZT6 Hs.121028 ASP|Calmbp1|DKFZp686N06184|FLJ10517|FLJ10549|FLJ43117|MCPH5 OTTHUMP00000034412|abnormal spindle-like microcephaly-associated protein|asp (abnormal spindle)-like, microcephaly associated (drosophila) protein-coding 1345823 ASPN asporin ASPN belongs to a family of leucine-rich repeat (LRR) proteins associated with the cartilage matrix. The name asporin reflects the unique aspartate-rich N terminus and the overall similarity to decorin (MIM 125255) (Lorenzo et al., 2001 [PubMed 11152692]).[supplied by OMIM] 1580863 19327154,18452398,18434216,18336287,18304494,18178444,17827158,17804408,17603749,17195216,17024313,16707531,16632759,16542493,16255042,15640800,14702039,12975309,12477932,11587855,11152695,11152692,15342556,17517696,19589127,19997821,20144272,20939878 54829 NM_017680,AL137848,CH471089,AF316824,AK000136,AK027359,AK172737,AK304501,AK308107,AY029191,AY358329,BC022059,BC063114,CD110559,AI741321,BP292032,NG_023430,NM_001193335 NP_060150,CAI16697,CAI16698,EAW62822,EAW62823,AAK35161,BAA90967,BAB55060,BAG65309,AAK31800,AAQ88695,AAH22059,AAH63114,Q05CQ6,Q5TBF2,Q6P528,Q9BXN1,NP_001180264 Hs.435655 FLJ20129|OS3|PLAP-1|PLAP1|SLRR1C OTTHUMP00000021658|PLAP-1|asporin|asporin (LRR class 1)|asporin (lrr class 1)|asporin proteoglycan|periodontal ligament associated protein 1|periodontal ligament-associated protein 1|small leucine-rich protein 1C protein-coding 1604987 ASPRV1 aspartic peptidase, retroviral-like 1 16098038,16565508,15815621,15489334,14702039,12477932 151516 NM_152792,AC079811,CH471053,CS057934,AK055994,AK057813,BC031997,BC094000,BC094002 NP_690005,AAY24017,EAW99836,CAI77615,BAB71067,BAB71587,AAH31997,AAH94000,AAH94002,Q53RT3 Hs.516253 MUNO|SASP|SASPase|Taps TPA-inducible aspartic proteinase-like protein|retroviral-like aspartic protease 1|skin aspartic protease|skin-specific retroviral-like aspartic protease protein-coding 1344232 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that this gene is fused with transcription factor TFE3 gene in ASPS and also in renal cell carcinomas. Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined. [provided by RefSeq] 18775313,18176180,17081983,15489334,14702039,14562105,12477932,11438465,11358836,11244503,10506710,20416077 79058 AC137723,AC145207,CH471099,AF324219,AK057403,AK057851,AK090682,AK126967,AK127159,AK127311,AK226086,AK290624,BC006152,BC018722,CR590197,CR613127,CR616428,CR619809,CR620803,CR622246,CR624042,NM_024083 NP_076988,EAW89731,AAK08959,BAB71472,BAB71595,BAF83313,AAH06152,AAH18722,Q9BZE9,ABM83448,ABM86660 Hs.298351 ASPCR1|ASPL|ASPS|FLJ45380|RCC17|TUG|UBXD9|UBXN9 UBX domain protein 9|UBX domain-containing protein 9|alveolar soft part sarcoma chromosomal region candidate gene 1 protein|alveolar soft part sarcoma locus|renal cell carcinoma gene on chromosome 17|renal cell carcinoma, papillary, 17|renal papillary cell carcinoma protein 17|tether containing UBX domain for GLUT4 protein-coding 1343525 ASRGL1 asparaginase like 1 8125298,19414332,17213182,16344560,15342556,14702039,12477932,11984834,9373149,18029348,19839645 80150 NM_001083926,NM_025080,AP003064,AP003306,CH471076,AF411076,AK090908,AK091894,AK225802,AK297158,AK309845,AK313069,BC006267,BC021295,BC064963,BC093070,BP308677,CR617167,CR620676,DA159051,DT220454 NP_001077395,NP_079356,EAW74012,EAW74013,EAW74014,EAW74015,EAW74016,EAW74017,AAM28434,BAG52245,BAG52437,BAG59656,BAG35897,AAH06267,AAH21295,AAH64963,AAH93070,Q7L266,Q9BRH2,ACE87277,ACE86596 Hs.535326 ALP|ALP1|CRASH|FLJ22316 L-asparaginase|L-asparagine amidohydrolase|asparaginase-like 1 protein|asparaginase-like protein 1 protein-coding 736136 ASS1 argininosuccinate synthetase 1 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1300048,2300098,1599301,1599263,1599267,1599305,1599310,1599265,4140479,4110824,70249,4140452,631755,4139898,4140449,4142785 12620389,2358466,6194510,19533750,19358837,19006241,19000307,18840401,18263583,17354225,17096330,16703398,16380201,16189514,16169070,16124451,15489334,15192091,14702039,14570901,12815590,12477932,11941481,11708871,11606680,11464474,9150948,8895530,8792870,7977368,7557970,6321498,6095035,3513483,3027451,2788888,1943692,1372742,891260,852520,1312326,19409979,19934275,20159990,19913121,20628086,20739017 2300098,1599301,1599263,1599267,1599305,1599310,1599265,4140479,4110824,70249,4140452,631755,4139898,4140449,4142785 445 NM_054012,NG_011542,AF363662,AL354898,AY034076,CH471090,L00081,L00084,M34903,AK027126,AK293114,AK304625,AK315093,AW672752,BC009243,BC013224,BC021676,BE207182,BE794559,BF305325,BI603075,BX403885,CR591395,CR592094,CR595936,CR597457,CR598119,CR598476,NM_000050,CR601739,CR604563,CR605717,CR605897,CR606149,CR606338,CR607007,CR608372,CR609148,CR612736,CR613193,CR615955,CR616527,CR616967,CR619067,CR620347,CR625815,DB496935,X01630,Z36810 NP_000041,NP_446464,AAM60751,CAI16158,CAI16159,CAI16160,CAI16161,AAK67487,EAW87932,EAW87933,EAW87934,EAW87935,EAW87936,AAA51783,AAA51782,BAF85803,BAG65407,BAG37558,AAH09243,AAH21676,CAA25771,P00966,Q5T6L4,Q5T6L5,Q5T6L6,Q8NFZ7,ACE87601,ACE86914 Hs.160786 ASS|CTLN1 OTTHUMP00000022363|OTTHUMP00000022364|argininosuccinate synthase|argininosuccinate synthetase 1|arginosuccinate synthetase|citrulline--aspartate ligase|citrulline-aspartate ligase protein-coding 1350105 ASSP1 argininosuccinate synthetase pseudogene 1 6321498,6093508,1440058 442167 NG_001077,K01845,AL160400 ASSP1 pseudo 1348690 ASSP10 argininosuccinate synthetase pseudogene 10 6093508,2435915 455 NG_003021,AC132803 ASSP10 pseudo 1345984 ASSP11 argininosuccinate synthetase pseudogene 11 6093508,456 340274 NG_008639,AC078791,CH236948 ASSP11 pseudo 1344256 ASSP12 argininosuccinate synthetase pseudogene 12 6093508 392302 NG_005207,AL353717 ASSP12 pseudo 1353562 ASSP13 argininosuccinate synthetase pseudogene 13 6093508 341230 NG_011669,AP003057 ASSP13 pseudo 1351034 ASSP14 argininosuccinate synthetase pseudogene 14 6093508,6321498 459 AC087311,NG_001078,NG_024077 ASSP14 pseudo 1354180 ASSP2 argininosuccinate synthetase pseudogene 2 9847074,6093508 447 NG_000845,AC018693,AC092833 ASSP2 pseudo 1353180 ASSP3 argininosuccinate synthetase pseudogene 3 6321498,6093508 158452 K01846,AL353705,NG_012998 ASSP3 pseudo 1345150 ASSP4 argininosuccinate synthetase pseudogene 4 6321498,6093508 449 NG_000846,AC004616,K01847,K01848,K01849 ASSP4 pseudo 1346261 ASSP5 argininosuccinate synthetase pseudogene 5 6093508 450 NG_000847,AC005000 ASSP5 pseudo 1349533 ASSP6 argininosuccinate synthetase pseudogene 6 12815422,9847074,6093508,2822495 451 NG_000848,AC012502 ASSP6 pseudo 1602905 ASSP7 argininosuccinate synthetase pseudogene 7 6321498,6093508 339845 NG_001079,AC117465 ASSP7 pseudo 1345680 ASSP8 argininosuccinate synthetase pseudogene 8 9847074,6093508,2435915 453 NG_003009,AC093881 ASSP8 pseudo 1348330 ASSP9 argininosuccinate synthetase pseudogene 9 6093508,2435915,454 454 NG_003022,AC025175 ASSP9 pseudo 1606299 ASTE1 asteroid homolog 1 (Drosophila) 14702039,12477932,19503063 28990 NM_014065,AC055733,CH471052,AF113539,AK027258,AK027806,AK294156,AK301388,BC030274,BC069265,BC103709,BC110616 NP_054784,EAW79214,EAW79215,EAW79216,AAF14876,BAB55383,BAG57480,BAG62927,AAH30274,AAI03710,AAI10617,Q2TB18 Hs.100878 HT001|MGC129980 OTTHUMP00000216085|protein asteroid homolog 1 protein-coding 1349169 ASTL astacin-like metallo-endopeptidase (M12 family) 1580863 19913121,20628086,15087446,12477932 431705 NM_001002036,AC012307,CH471207,AJ537600,BC107126,BC107127 NP_001002036,EAW71389,CAD61265,AAI07127,AAI07128,Q3B826,Q6HA08 Hs.447993 MGC129843 astacin-like metalloendopeptidase|astacin-like metalloendopeptidase (M12 family)|astacin-like metalloendopeptidase (m12 family)|oocyte astacin|ovastacin protein-coding 1602904 ASTN1 astrotactin 1 19086053,18519826,18384059,16710414,16344560,12477932,9179496,9070947,8889548,3276720,20379614 460 NM_207108,NM_004319,AL021398,AL022145,AL031290,AL136983,CH471067,AB006627,AK295126,AK307820,AK309094,AU132309,BC015438,BC032870,BC049377,BC064147,BC142697,BC146795,BM722747,BU620695 NP_004310,NP_996991,CAI23462,CAI23463,CAI23464,CAI20554,CAI20555,CAI20556,CAI20557,CAI22717,CAI22718,CAI22719,CAI22720,CAH71677,CAH71678,CAH71679,EAW91005,EAW91006,EAW91007,EAW91008,BAA22958,BAG58151,AAH15438,AAI42698,AAI46796,O14525,Q96BL7 Hs.495897 ASTN|KIAA1747 OTTHUMP00000032988|astrotactin-1 protein-coding 1314130 ASTN2 astrotactin 2 9734811,19086053,18940311,14702039,12477932,16344560,18839057,19910543,20195266,20379614,20889312 23245 NM_014010,NM_198187,NM_198186,NM_198188,AL133282,AL133284,AL137024,AL157829,AL354981,AL355608,AL358792,AL392085,AL669963,CH471090,AB014534,AF116574,AK024064,AK127350,AK315025,BC010680,BC018759,BC029272,BC093835,BC101667,BC143289,BC143292,BC143293,BC146756,BM552790,BX648673,BX649176,CR618241,AI341147,DA015423,NG_021409,NM_001184734,NM_001184735,XM_002346192,XM_003120103 NP_054729,NP_937830,NP_937829,NP_937831,CAI39863,CAI39864,CAI16369,CAI16370,CAI16371,CAI14279,CAI14280,CAH72264,CAI16404,CAI15800,CAH71966,CAH71490,EAW87444,BAA31609,AAF14357,BAG51261,BAG54491,BAG37513,AAH18759,AAH29272,AAH93835,AAI01668,AAI43290,AAI43293,AAI43294,AAI46757,O75129,CAM14406,CAM15244,CAM15245,CAM16458,CAM20037,CAM20038,CAM22873,CAM22874,CAM22956,NP_001171663,NP_001171664,XP_002346233,XP_003120151 Hs.601562 KIAA0634|bA67K19.1 OTTHUMP00000162109|astrotactin-2|bA264C15.1 protein-coding 1344611 ASXL1 additional sex combs like 1 (Drosophila) In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene. [provided by RefSeq] 1580863 20678218,20596031,20408841,20410925,17474147,18624398,19609284,19388938,15489334,14702039,12657473,12477932,12168954,11780052,10231032,9477319,1349871,16606617,18506748,18957548,19586940,19615732,19865112,19880879,20182461,20334914,8889548,20693432,19815555,20880116 171023 NG_027868,NM_015338,AL034550,AL121583,CH471077,AB023195,AB084280,AJ438952,AK025756,AK122923,AL117518,AL117647,BC033284,BC064984,BC100280,BC137278,BC137280,BQ064719,BX109122,CR611154,BU686340,CR977683,NM_001164603 NP_056153,CAI42259,CAI40414,CAI40415,EAW76377,EAW76378,EAW76379,EAW76380,BAA76822,BAD00087,CAD27708,BAG53800,CAB55975,CAB56029,AAH33284,AAH64984,AAI00281,AAI37279,AAI37281,Q498B9,Q5JWS8,Q6P1M8,Q76L82,Q8IXJ9,NP_001158075 Hs.374043 KIAA0978|MGC117280|MGC71111 additional sex combs-like protein 1|polycomb group protein ASXL1|putative Polycomb group protein ASXL1 protein-coding 1312315 ASXL2 additional sex combs like 2 (Drosophila) ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM] 15231748,19615732,17353931,17672918,14702039,12888926,12477932,11214970 55252 NM_018263,AC010150,AC064847,CH471053,AB051472,AB084279,AK000649,AK001760,BC042999,BX647527,BX648218,CR933613 NP_060733,AAY14841,EAX00716,EAX00717,BAB21776,BAD00086,BAA91889,AAH42999,CAI45930,Q76L83 Hs.119815 ASXH2|DKFZp686C1968|FLJ10898|KIAA1685 additional sex combs-like protein 2|polycomb group protein ASXH2|putative Polycomb group protein ASXL2 protein-coding 1344717 ASXL3 additional sex combs like 3 (Drosophila) 16412590,16344560,15138607,14702039,11214970,10737800,20379614 80816 NM_030632,AC010798,AC023192,AC090989,AA447511,AB051500,AK056450,AK091683,AK131454,AL133050,BE145544,DB061724 NP_085135,BAB21804,BAB71186,BAD18599,CAB61377,Q9C0F0 Hs.464876 KIAA1713 additional sex combs-like protein 3|putative Polycomb group protein ASXL3 protein-coding 1348719 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 632725,1580863 12040005,15489334,15364959,14702039,12690205,12477932,11279520 632725 136991 NM_130768,NR_023315,AC002465,CH236947,CH471070,AF461259,AK093445,BC028695,BC034963,BC068488,BC098399,BC126186,BC126188,BC144207,BC144212,DB457846,HC006784,HC044669 NP_570124,EAL24354,EAW83526,EAW83527,EAW83528,AAL68815,BAC04167,AAH34963,AAI26187,AAI26189,AAI44213,Q49AP3,Q8WWH4,ADR83190,CBH19198,CBH30664 Hs.352412 ALP1|ANKL1|C7orf7|CT1.19|GASZ|MGC26634|Orf3 4933400N19Rik|ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1|ankyrin-like 1|ankyrin-like protein 1|germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein protein-coding 1318420 ATAD1 ATPase family, AAA domain containing 1 737633,1580863 17203973,16303743,15489334,15164054,14702039,12477932,16385451,19615732,20379614,20877624 737633 84896 NM_032810,AC022016,AL133327,CH471066,CQ783876,AF361493,AK027506,AK075223,AK304297,AL834370,BC010868,BC063530,BC073998,CR593614,HH961762 NP_116199,CAI16701,EAW50177,EAW50178,EAW50179,EAW50180,CAF86903,AAL57218,BAB55161,BAC11482,BAG65153,CAD39033,AAH10868,AAH63530,AAH73998,Q8NBU5,CBX51354 Hs.435948 AFDC1|FLJ14600|FNP001 ATPase family AAA domain-containing protein 1|OTTHUMP00000020031 protein-coding 1312522 ATAD2 ATPase family, AAA domain containing 2 A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq] 737633 18029348,19318566,17998543,17081983,15489334,15342556,15334068,15302935,14702039,12477932,16712791,20855524,19843847 737633 29028 AC021305,CH471060,AF118088,AK097133,AL833653,AY598335,BC007123,BC010686,BC019909,BC112942,BC113656,BC143716,BP314109,CA441499,CB159561,CR749832,NM_014109 NP_054828,EAW92033,EAW92034,EAW92035,EAW92036,AAF22032,BAC04959,CAH56229,AAT06746,AAH10686,AAH19909,AAI13657,CAH18688,Q6PL18 Hs.370834 ANCCA|DKFZp667N1320|MGC131938|MGC142216|MGC29843|MGC5254|PRO2000 AAA nuclear coregulator cancer-associated protein|ATPase family AAA domain-containing protein 2 protein-coding 1604011 ATAD2B ATPase family, AAA domain containing 2B 14702039,12477932,10574462,9110174,8619474 54454 NM_017552,AC009242,AC066692,AC079924,AA767863,AB033066,AF038204,AK094821,AK125718,AK131301,BC037408,BC071781,BC171846 NP_060022,BAA86554,BAC04429,BAG54237,BAD18469,AAH37408,Q8IWJ3,Q9ULI0 Hs.467862 KIAA1240|MGC88424 ATPase family AAA domain-containing protein 2B protein-coding 1314304 ATAD3A ATPase family, AAA domain containing 3A ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM] 737633 16344560,17148452,19041431,20154147,20351179,18063578,17210950,16710414,15489334,14702039,12477932,17353931,18639545,20332122,20349121,20877624 737633 55210 AK092833,DA206969,GU189416,NM_001170535,NM_001170536,AL645728,NM_018188,CH471183,AK001571,AK025865,AK056099,AK091144,AK310572,BC007803,BC011814,BC014101,BC033109,BC063607 ACZ80514,NP_001164006,NP_001164007,NP_060658,CAI22951,CAI22952,CAI22953,CAI22954,CAI22955,EAW56186,EAW56187,EAW56188,EAW56189,EAW56190,EAW56191,BAA91764,BAG51625,BAC03595,AAH07803,AAH11814,AAH14101,AAH33109,AAH63607,Q5SV14,Q5SV24,Q9NVI7 Hs.23413 FLJ10709|FLJ35514 ATPase family AAA domain-containing protein 3A|OTTHUMP00000000595 protein-coding 1347003 ATAD3B ATPase family, AAA domain containing 3B ATAD3A (MIM 612316) and ATAD3B are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM] 737633 18639545,17210950,16909202,16710414,15489334,14702039,12477932,10574462,17353931,20877624,17148452,19615732,19913121 737633 83858 NM_031921,AL157945,AL645728,CH471183,AB033099,AF343078,AK024028,AK127857,AK290586,AL834179,BC002542,BC009938,BC018701,BQ954571,CR609514 NP_114127,CAI22068,CAI22070,EAW56192,EAW56193,EAW56194,BAA86587,AAK38647,BAB14787,BAF83275,CAD38876,AAH02542,AAH18701,Q5T9A4,Q8N3E6,Q96T67,Q9H834 Hs.23413 AAA-TOB3|KIAA1273|TOB3 AAA-ATPase TOB3|ATPase family AAA domain-containing protein 3B protein-coding 1604719 ATAD3C ATPase family, AAA domain containing 3C 14702039,12477932 219293 NM_001039211,AL157945,AL391244,AL645728,AK074653,AK091918,AK094502,BC101211,BC101212 NP_001034300,CAI22067,CAI22656,CAI22950,BAC04369,AAI01212,AAI01213,Q5SV16,Q5T2N8 Hs.724767 FLJ34599|FLJ37183 ATPase family AAA domain-containing protein 3C|ATPase family, AAA domain containing 3A protein-coding 1601848 ATAD4 ATPase family, AAA domain containing 4 17207965,12477932 79170 NM_024320,AC018521,CH471109,AK309589,BC002865 ADQ32779,NP_077296,EAW94779,EAW94780,AAH02865,Q59GS3,Q9BU68 Hs.368260 ATAD4|MGC11242 ATPase family, AAA domain containing 4|proline-rich protein 15-like protein protein-coding 1605345 ATAD5 ATPase family, AAA domain containing 5 19291764,18391951,17632510,15983387,14702039,12477932,11468690,10843809,20546612,19755857,20379614 79915 NM_024857,AC127024,AC130324,AJ314648,AK022797,AL832103,AY557611,BC015051 NP_079133,CAC44537,BAB14248,CAH10412,AAT52049,AAH15051,Q96QE3,AAI48344 Hs.528902 C17orf41|ELG1|FLJ12735|FRAG1 ATPase family AAA domain-containing protein 5|chromosome fragility associated gene 1|chromosome fragility-associated gene 1 protein|enhanced level of genomic instability 1 homolog protein-coding 1319593 ATCAY ataxia, cerebellar, Cayman type This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq] 1599351,1599348 16275660,19165527,16344560,15489334,14702039,14556008,12477932,11347906,8845847,19861499,17207965,16899818 1599351,1599348 85300 NM_033064,AC011488,CH471139,AB058775,AK027889,AK092309,AK125457,AK299522,AY220297,BC008736,BC014884,BC026217,BF516378,BX505461,CR624420,DA151785,DA778097,NG_012638 NP_149053,EAW69280,BAB47501,BAC03859,BAG61473,BAG54199,AAO63019,AAH26217,Q86WG3,ADQ32311 Hs.418055 BNIP-H|CLAC|KIAA1872 Cayman ataxia|ataxia cayman type protein|caytaxin protein-coding 1347369 ATCD1 ATP synthase subunit C domain containing 1 pseudogene 100132978 AC233723,NG_009542,AC109333 pseudo 1351713 ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 7702088 465 1319626 ATE1 arginyltransferase 1 This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 9858543,16943202,16002466,15489334,14702039,12477932,16385451,19615732,20379614 11101 NM_007041,NM_001001976,AC025947,AL731542,AL731566,CH471066,AF079098,AF079099,AK124669,AK292657,AK295642,AK296356,AK299101,AK303604,AK308926,AK313057,BC022026 NP_008972,NP_001001976,CAI12918,CAI12919,CAI14813,CAI14814,EAW49334,EAW49335,EAW49336,AAD12366,AAD12367,BAG54065,BAF85346,BAG58513,BAG59037,BAG61160,BAG64619,BAG35887,AAH22026,O95260,Q5SQQ2,ABM83018,ABM86211 Hs.632080 MGC26724 OTTHUMP00000020638|R-transferase 1|arginine-tRNA--protein transferase 1|arginyl-tRNA--protein transferase 1|arginyl-tRNA-protein transferase protein-coding 1316513 ATF1 activating transcription factor 1 1580863,2316104 15489334,15041276,14767471,12805554,12760902,12748173,12734209,12631284,12527906,12477932,12444143,12391222,12195699,11992546,11909979,11877423,11018520,11014230,10945975,10585419,10567391,9824209,9685505,9671480,9016641,8889548,8663317,8621702,8570175,8384217,7730336,2516827,1655749,15806162,20413592,2196176,8401579,8798441,18950845,18794154,17565989,16716376,16344560,16327442,16227528,15884099,19561568,19950226,20453000,15276183,20536573,19714462,19913121,20628086 2316104 466 AAB25878 NG_027673,NM_005171,AC013244,CH471111,X55544,AK299240,AK313406,BC029619,BG502726,BG545632,BG611151,BG611861,BI712653,BU682151,BX102171,CR622614,CR624071,DA468394 NP_005162,EAW58151,CAA39150,BAG61271,BAG36201,AAH29619,AAB25878,P18846,ABZ91993,ABZ92155 Hs.648565 EWS-ATF1|FUS/ATF-1|TREB36 cAMP-dependent transcription factor ATF-1|cyclic AMP-dependent transcription factor ATF-1 protein-coding 3539572 ATF1P1 activating transcription factor 1 pseudogene 1 100128159 AL356956,NG_016455 pseudo 732287 ATF2 activating transcription factor 2 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. The protein forms a homodimer or heterodimer with c-Jun and stimulates CRE-dependent transcription. The protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. Additional transcript variants have been identified but their biological validity has not been determined. [provided by RefSeq] 704409,1580863 20507983,20051382,10909971,2529117,8798441,9030721,10878576,19453261,19331149,19278424,19184334,19176525,19082758,18700251,18677098,18671972,18547788,18397884,18348191,18077426,17869487,17681939,17626013,17337306,17258390,17244683,17082618,17081983,17054722,16896160,16869889,16418168,16344560,16049073,15916964,15878807,15691875,15304344,15302935,14988408,14734562,14678960,14630918,12833146,12805554,12788955,12592382,12477932,12270648,12200150,12110590,11932306,11836564,11713276,11259586,11231009,10821277,10567391,10357819,10327051,10085140,9920921,9873047,9748258,9685505,9671405,9628874,9524124,9488727,9445037,9207191,9139739,9058782,8628277,8440710,7737130,7737129,7535770,2521922,2320002,1838349,1833307,1828107,1827203,1641004,602896,16179804,18307971,8027667,11279118,9405416,9207092,12244047,9786917,15692053,9155018,11566021,7769693,9235954,12663670,19913121,20628086,10393177,11302752,15105425,16511568,16533805,17254968,18029348,19135240,19487697,19712049,19822663,19923798,19944700,20116378,20379614,20211142,20619956,20581861,20675274,15276183 704409 1386 AC007435,AC074291,AC096649,AC131958,CH471058,AI200584,AK128731,AY029364,BC026175,BC107698,BC130335,BC130337,BX648469,DQ003036,DQ003037,DQ003038,DQ003039,DQ003040,DQ003041,DQ003042,DQ003043,DQ003044,DQ003045,DQ003046,DQ003047,DQ003048,DQ003049,M31630,NM_001880,U16028,X15875 NP_001871,AAY15004,AAX88876,EAX11109,EAX11110,EAX11111,EAX11112,EAX11113,BAG54719,AAK55760,AAH26175,AAI07699,AAI30336,AAI30338,AAY17202,AAY17203,AAY17204,AAY17205,AAY17206,AAY17207,AAY17208,AAY17209,AAY17210,AAY17211,AAY17212,AAY17213,AAY17214,AAY17215,AAA35951,AAB64017,CAA33886,P15336,Q3B7B7,Q8TAR1,Q96JT8,ADR83024 Hs.592510 CRE-BP1|CREB2|HB16|MGC111558|TREB7 CREB-2|OTTHUMP00000205345|OTTHUMP00000205347|OTTHUMP00000205348|OTTHUMP00000205350|OTTHUMP00000205352|OTTHUMP00000205353|OTTHUMP00000205354|activating transcription factor 2 splice variant ATF2-var2|cAMP response element-binding protein CRE-BP1|cAMP responsive element binding protein 2, formerly|cAMP-dependent transcription factor ATF-2|cAMP-responsive element-binding protein 2|cyclic AMP-dependent transcription factor ATF-2|cyclic AMP-responsive element-binding protein 2|ratf2 protein-coding 735760 ATF3 activating transcription factor 3 Activating transcription factor 3 is a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. Multiple transcript variants encoding two different isoforms have been found for this gene. The longer isoform represses rather than activates transcription from promoters with ATF binding elements. The shorter isoform (deltaZip2) lacks the leucine zipper protein-dimerization motif and does not bind to DNA, and it stimulates transcription presumably by sequestering inhibitory co-factors away from the promoter. It is possible that alternative splicing of the ATF3 gene may be physiologically important in the regulation of target genes. [provided by RefSeq] 1580863,2302136,2302137 20413626,20581861,18255255,7515060,18029348,19219066,19136462,19060337,18922905,18802113,18755691,18692824,18426833,18235102,18192274,18001166,17952119,17599613,17437852,17295236,17178897,17102133,17014422,16989641,16912181,16613840,16484797,16344560,16306208,16286461,16263788,16109718,16079301,15670751,15489334,15385533,15280448,14759258,14702039,14667575,12881527,12833146,12805554,12718878,12477932,12392999,12386811,12372430,12161427,12034827,11792711,11726207,11375399,8649793,8622660,8576171,8152431,7692236,2516827,11810028,19164757,1827203,16169070,15933712,20696134,16291753,19582787,20167600,20180416,20215396,20351107,20423458,20304822,20485437,14673171,20002170,20211142,20930144,19913121,20628086 2302136,2302137 467 NM_001030287,NM_001040619,NM_001674,AC092803,AL590648,AL606913,AY426987,CH471100,AB066566,AB078026,AY313926,AY313927,BC006322,BI819383,BT006996,CR450334,CR600751,CR602765,CR612905,CR614684,CR614862,CR619424,CR620886,CR626784,DA691940,DB197400,L19871,AB078027,AB078028,AB209032,AI492228,AK125255,AK294296,AK312998,AL560585,AU135799 NP_001025458,NP_001035709,NP_001665,CAH72653,CAH72654,CAH72655,CAH72656,CAH72657,AAQ93358,EAW93383,EAW93384,EAW93385,EAW93386,EAW93387,EAW93388,BAB84092,AAP93895,AAP93896,AAH06322,AAP35642,CAG29330,AAA20506,P18847,Q59GS7,Q5VTZ2,Q5VTZ4,Q6ICQ9,Q7Z566,Q7Z567,Q8NG55,Q8WYM6,ABM83649,ABM86898,BAC00496,BAC05510,BAD92269,BAG57579,BAG35834,BAC00495 Hs.460 ATF3deltaZip2|ATF3deltaZip2c|ATF3deltaZip3|OTTHUMP00000034888|OTTHUMP00000034890|OTTHUMP00000038593|OTTHUMP00000038594|cAMP-dependent transcription factor ATF-3|cyclic AMP-dependent transcription factor ATF-3 protein-coding 733712 ATF4 activating transcription factor 4 (tax-responsive enhancer element B67) This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromsome at q28 in a region containing a large inverted duplication. [provided by RefSeq] 734979,1580863 20936779,20592469,15461802,15385533,14747470,14695168,14630918,14561767,12860379,12812986,12805554,12743605,12477932,11274184,11087824,11025215,11018027,10591208,10419887,9488481,9295363,8939898,2516827,1847461,1827203,1534408,1371974,18276110,19164757,15475356,16169070,14623284,11960987,9190894,12689582,15788408,15314157,19453261,19417138,19251251,19193809,19114033,19073601,19017641,18940792,18697751,18635891,18451308,18408768,18195013,18189280,18171674,18163433,17996332,17938202,17822787,17707795,17684156,17369260,17347301,17346882,16687408,16682973,16219772,16189514,15677469,15489334,16343488,19061639,19509279,19855386,19946894,20022965,20185790,20473272,20551969,20514020,20724472,20732869 734979 468 NM_182810,AL022312,CH471095,AK057751,AK296028,BC008090,BC011994,BC016855,BC022088,BC024775,BC044895,NM_001675,BC073754,BC073990,CR450353,CR456384,CR590198,CR591677,CR592048,CR595416,CR596727,CR599519,CR601074,CR601622,CR602573,CR603180,CR604584,CR604900,CR605268,CR605521,CR605724,CR605899,CR605980,CR606384,CR606595,CR606709,CR607769,CR610045,CR610254,CR610256,CR611425,CR614389,CR614692,CR616253,CR617911,CR619870,CR621381,CR623334,CR623979,CR625158,CR625892,D90209,M86842 NP_001666,NP_877962,CAB45284,EAW60341,EAW60342,BAG58796,AAH08090,AAH11994,AAH16855,AAH22088,AAH24775,AAH73754,AAH73990,CAG29349,CAG30270,AAH44895,BAA14234,AAA52071,P18848,Q6ICP0,Q96AQ3,CAK54373,CAK54672,ABM82684,ABM85868 Hs.496487 CREB-2|CREB2|TAXREB67|TXREB DNA-binding protein TAXREB67|OTTHUMP00000199130|activating transcription factor atf-4|cAMP response element-binding protein 2|cAMP-dependent transcription factor ATF-4|cAMP-responsive element-binding protein 2|cyclic AMP-dependent transcription factor ATF-4|cyclic AMP-responsive element-binding protein 2|tax-responsive enhancer element-binding protein 67 protein-coding 1344419 ATF4B activating transcription factor 4B 10610718 23777,100127952 AP003170,NG_021835 ATF4B pseudo 1352172 ATF4C activating transcription factor 4C 10610718 643159 NG_009319,AC015801 ATF4C pseudo 1353507 ATF4P1 activating transcription factor 4 pseudogene 1 11709543,11410370,8088803 469 NG_001080,AF277315,U03712 ATF4P|TAXREB67P|TXREBP activating transcription factor 4 pseudogene (tax-responsive enhancer element b67 pseudogene) pseudo 2291806 ATF4P2 activating transcription factor 4 pseudogene 2 11709543,11410370,8088803 340600 NG_002951,AF277315 pseudo 1350993 ATF5 activating transcription factor 5 1580863 20423929,15342556,8889548,10373550,19285020,19251251,18832568,18701499,18458088,18332083,18195013,18055463,17346882,16344560,16300731,16170340,16164412,15890932,15489334,15358120,15221005,14702039,12812986,12477932,11278933,11087824,1371974,18276110,19531563,20379614,18029348 22809 BF528888,BM462249,BP378116,BU730542,DA684664,NM_001193646,NM_012068,AC011452,CH471177,AB021663,AB073613,AF101388,AF305687,AK024402,AK091985,AK290592,BC005174,CR592798,CR609432,DA251296 NP_001180575,NP_036200,EAW52581,EAW52582,EAW52583,BAA78477,BAD38650,AAD28370,AAG22558,BAG51295,BAF83281,AAH05174,Q9Y2D1 Hs.9754 ATFX|FLJ34666|HMFN0395 cAMP-dependent transcription factor ATF-5|cyclic AMP-dependent transcription factor ATF-5|transcription factor ATFx 1643251 BW139_H protein-coding 1313517 ATF6 activating transcription factor 6 ATF6 is an endoplasmic reticulum (ER) stress-regulated transmembrane transcription factor that activates the transcription of ER molecules.[supplied by OMIM] 1580863 9271374,10866666,10564271,9837962,19420237,19304306,19122331,18840095,18650380,18635891,18022401,17686766,17522056,17442311,17440018,17327457,17101776,17092596,16710414,16505252,15598891,15489334,15299016,15063770,14765107,14699159,12949534,12805554,12782636,12713871,12477932,12097557,12076252,12014989,11909875,11821395,11805088,11483355,11287625,11256944,11163209,11158310,2516827,19913121,20628086,16469704,19667116,19693772,19722195,19723703,19772629,19816510,19822759,20800603,20219975,20936779 22926 NM_007348,AL359541,AL391825,AL450995,CH471067,AB015856,AB208929,AF005887,AK290498,BC014969,BC071997 NP_031374,CAH74152,CAH73985,CAH71144,EAW90694,BAA34722,BAD92166,AAB64434,BAF83187,AAH14969,AAH71997,P18850,Q59H30,AAI66676 Hs.492740 ATF6A ATF6-alpha|activating transcription factor 6 alpha|cAMP-dependent transcription factor ATF-6 alpha|cyclic AMP-dependent transcription factor ATF-6 alpha protein-coding 1346168 ATF6B activating transcription factor 6 beta The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8586413,8870652,14973138,14702039,14656967,14574404,12782636,12477932,11256944,11163209,11158310,10644760,8923003,7686164,12445808,19913121,20628086,19693772,19851445 1388 NG_000013,NG_004658,NG_005163,NM_001136153,AL049547,AL662828,AL662884,CH471081,CR753803,NM_004381,CR925796,U52693,U52694,U89337,X98053,AK000928,BC008394,BC077075,BT007042,U31903,U52696,U52701,X98054 NP_004372,NP_001129625,CAB89295,CAI17416,CAI18334,CAI18336,EAX03581,EAX03582,EAX03583,EAX03584,EAX03585,CAQ09552,CAQ09553,CAQ10263,CAQ10264,AAG14898,AAG14900,AAB47487,CAA66663,AAH08394,AAH77075,AAP35691,AAA97438,AAC50888,AAC50883,CAA66664,Q6AZW6,Q96QL7,Q99941 Hs.42853 CREB-RP|CREBL1|FLJ10066|G13 ATF6-beta|Creb-related protein|cAMP response element-binding protein-related protein|cAMP responsive element binding protein-like 1|cAMP-dependent transcription factor ATF-6 beta|cAMP-responsive element-binding protein-like 1|cyclic AMP-dependent transcription factor ATF-6 beta|protein G13 protein-coding 1312669 ATF7 activating transcription factor 7 1580863 1694576,18029348,18950637,17081983,16344560,15735663,15342556,14643450,12805554,12477932,11278933,10698518,8939888,8889548,8649858,8288576,18671972,7769693,17264123,15867431,20189936 11016 NM_006856,NM_001130059,NM_001130060,AC023509,AC073594,CH471054,AK298853,AK302907,AK310355,AK313507,BC032433,BC042363,BC136302,BC140006,BP279417,BP312300,BQ184780,DB047160,X52943,X57197 NP_006847,NP_001123531,NP_001123532,EAW96723,EAW96724,BAG60976,BAG64077,BAG36287,AAH42363,AAI36303,AAI40007,CAA37118,CAA40483,P17544,Q8IVR8 Hs.12286,Hs.633602 ATFA|MGC57182 cAMP-dependent transcription factor ATF-7|cyclic AMP-dependent transcription factor ATF-7|transcription factor ATF-A protein-coding 1314412 ATF7IP activating transcription factor 7 interacting protein 12665582,19106100,18842587,17081983,16757475,16314315,15691849,15489334,15231748,14702039,14536086,12812986,12659632,12477932,10976766,10777215,18029348,20543847,19394292,20936779 55729 NM_018179,AC007782,AC008114,AC124892,CH471094,AF425650,AJ242978,AK001001,AK001550,AK021569,AK025060,AK027575,AK074868,AK299320,AK304184,AY337596,BC037312,BC053625,BC063855,BX648096 NP_060649,EAW96314,EAW96315,EAW96316,EAW96317,EAW96318,EAW96319,EAW96320,AAO91864,CAB45135,BAA91751,BAG51349,BAG52020,BAG61328,BAG65064,AAQ92978,AAH37312,AAH63855,Q6VMQ6 Hs.591151 AM|FLJ10139|FLJ10688|MCAF|MCAF1|p621 ATF-IP|ATF-interacting protein|ATFa-associated modulator|MBD1-containing chromatin associated factor|MBD1-containing chromatin-associated factor 1|activating transcription factor 7-interacting protein 1|hAM protein-coding 1314578 ATF7IP2 activating transcription factor 7 interacting protein 2 9373149,20195266,15691849,15489334,14702039,12477932,8125298 80063 AC131649,CH471112,AK022730,AK093414,AK223492,AK296565,AK299040,AL832987,AY560615,BC033891,BC069695,BC069713,NM_024997,BC069730,BC137079,BC144468,BI459223,CR619028 AAH69713,NP_079273,EAW85183,EAW85184,BAB14209,BAC04157,BAD97212,BAG59185,BAG61114,CAH56323,AAT66299,AAH33891,AAH69695,AAH69730,AAI37080,Q5U623 Hs.513343 FLJ12668|MCAF2 MBD1-containing chromatin associated factor 2|MBD1-containing chromatin-associated factor 2|OTTHUMP00000160167|OTTHUMP00000160168|activating transcription factor 7-interacting protein 2 protein-coding 1351458 ATG10 ATG10 autophagy related 10 homolog (S. cerevisiae) Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM] 1643329,1580863,4889529 20562859,15489336,15489334,14702039,12890687,12482611,12477932,11230166,11076863,9373149,8125298,2890687,17353931,17256008,16963840,11256614,16381901,15498874,15657430,20379614 1643329,4889529 83734 NM_001131028,AC010598,AC106824,AC114969,CH471084,AF318326,AI436652,AK024016,AK225969,AK315752,AL136912,BC004551,BC027718,BC029268,NM_031482 NP_001124500,NP_113670,EAW95881,EAW95882,EAW95883,EAW95884,EAW95885,EAW95886,AAL55833,BAB14778,BAG38106,CAB66846,AAH29268,Q9H0Y0,CAL38733,ABM83358,ABM86570 Hs.713698 APG10|APG10L|DKFZp586I0418|FLJ13954|pp12616 APG10 autophagy 10-like|APG10-like|OTTHUMP00000222340|apg10 autophagy 10-like (s. cerevisiae)|autophagy-related protein 10|ubiquitin-like-conjugating enzyme ATG10 protein-coding 1314851 ATG12 ATG12 autophagy related 12 homolog (S. cerevisiae) Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM] 1643329,2301217,1580863,4889529 9852036,11096062,11825910,19197948,19124466,17457038,16189514,15489334,14702039,12665549,12482611,12477932,12207896,11890701,9490301,8889548,17353931,15146197,15342556,16344560,19901552,20562859 1643329,2301217,4889529 9140 NM_004707,AC026449,CH471086,AB002440,AB017507,AK098251,AK313320,AL161968,BC011033,BC012266,BM697565,BX327373,CR608587,CR614175,CR625063,EU554057,AB002449,BP335591,CB995198,CN400030,DA005347,DB530852,NR_033362,NR_033363 NP_004698,EAW48954,EAW48955,EAW48956,BAA36493,BAG36125,AAH11033,AAH12266,ACD74941,O94817 Hs.264482 APG12|APG12L|FBR93|HAPG12 APG12 autophagy 12-like|APG12-like|Apg12 (autophagy, yeast) homolog|OTTHUMP00000159129|apg12 autophagy 12-like (s. cerevisiae)|autophagy-related protein 12|ubiquitin-like protein ATG12 protein-coding 2293247 ATG12P ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene 20723759 100151642 NG_007656,AC025198 ATG12P pseudo 4888931 ATG12P2 ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene 2 9847074 100293948 AC013476,NG_016651 pseudo 1321647 ATG16L1 ATG16 autophagy related 16-like 1 (S. cerevisiae) Autophagy is the major intracellular degradation system delivering cytoplasmic components to lysosomes, and it accounts for degradation of most long-lived proteins and some organelles. Cytoplasmic constituents, including organelles, are sequestered into double-membraned autophagosomes, which subsequently fuse with lysosomes. ATG16L1 is a component of a large protein complex essential for autophagy (Mizushima et al., 2003 [PubMed 12665549]).[supplied by OMIM] 1643329,4889529 20639872,19120485,19269148,19575361,19590455,19659808,19683022,19783656,19898471,20014019,20024904,20066736,20082483,20222171,20380008,20395867,20485703,19760754,20637199,20722066,20839241,20846217,20875485,20886065,20962850,21072187,17353931,15620219,19491842,19422935,19337756,19334001,19276991,19262523,19235913,19174780,19139628,18985712,18852889,18849966,18824555,18715515,18698678,18671817,18587394,18521924,18521914,18499543,18495612,18448665,18438406,18366306,18338763,18200510,18166373,18162085,18088053,18047540,17921695,17894849,17625155,17554300,17534574,17484864,17455206,17435756,17200669,16344560,15489334,14743216,14702039,12975309,12665549,12477932,11181995,20562859,20697744,21102463,20570966 1643329,4889529 55054 NG_023038,NM_001190266,NM_001190267,NM_198890,NM_030803,NM_017974,AC013726,CH471063,AA809053,AK000897,AK001690,AK024453,AK026330,AK027854,AK123876,AK308400,AL834526,AY358182,AY398617,BC000061,BC006253,BC013411,BC071846,BC117337,BC143900,BG702756,DB084962,DB474638,EF079889,EF079890,EF560734,AK074434 NP_001177195,NP_001177196,NP_942593,NP_110430,NP_060444,AAY14860,EAW71033,EAW71034,EAW71035,EAW71036,EAW71037,EAW71038,EAW71039,EAW71040,BAA91413,BAB15743,BAB15448,BAB55412,BAB85082,BAC85713,CAD39182,AAQ88549,AAR32130,AAH71846,AAI17338,AAI43901,ABN48554,ABN48555,ABQ59044,Q53SV2,Q676U5,Q8TCI4,Q9H7M5,Q9NWG8 Hs.529322 APG16L|ATG16A|ATG16L|FLJ00045|FLJ10035|FLJ10828|FLJ22677|IBD10|WDR30 APG16L beta|OTTHUMP00000165877|WD repeat domain 30|apg16 autophagy 16-like (s. cerevisiae)|autophagy-related protein 16-1 protein-coding 1606757 ATG16L2 ATG16 autophagy related 16-like 2 (S. cerevisiae) 1643329,4889529 14702039,12477932,11214971 1643329,4889529 89849 AP002381,CH471076,AK024423,AK090597,AK091151,AK093017,AK303270,AL832974,BC036713,BC069189,BC108672,BC137489,BC137490,BC142718,BC146660,NM_033388,CR590633,CR593047,CR605872,CR609750,BQ929430 NP_203746,EAW74874,EAW74875,EAW74876,EAW74877,EAW74878,EAW74879,BAB15713,BAC03485,BAC04021,BAG64352,CAH56355,AAH36713,AAI08673,AAI37490,AAI37491,AAI42719,Q2VPK0,Q8NAA4,Q9H7Q5,AAI46661 Hs.653186 ATG16B|FLJ00012|WDR80 APG16-like 2|WD repeat-containing protein 80|autophagy-related protein 16-2 protein-coding 1604391 ATG2A ATG2 autophagy related 2 homolog A (S. cerevisiae) 12477932,19615732,20379614,9253601,9455477,20562859 23130 NM_015104,AP001187,CH471076,AB007864,AI638563,AK126181,AK300925,AK307684,BC008593,BC027481,BC033850,BC053596,BC110650,BC113090,BC113091 NP_055919,EAW74323,BAA23700,BAC86477,BAG62557,AAH08593,AAH27481,AAH53596,AAI10651,AAI13091,AAI13092,A0AUL9,Q2TAZ0 Hs.370671 KIAA0404|MGC117153 OTTHUMP00000069745|autophagy-related protein 2 homolog A protein-coding 1312572 ATG2B ATG2 autophagy related 2 homolog B (S. cerevisiae) 20562859,19197948,15489334,15028280,14702039,12508121,12477932 55102 NM_018036,AL355102,AL359240,CH471061,AK001104,AK055200,AK123451,AK128275,AK302641,AL133095,BC015016,BC015851,BU101822,BU166120,BU167202 NP_060506,EAW81633,BAA91504,BAB70872,BAC87363,BAG63882,AAH15016,Q96BY7 Hs.168241 C14orf103|FLJ10242 autophagy-related protein 2 homolog B protein-coding 1353416 ATG3 ATG3 autophagy related 3 homolog (S. cerevisiae) Autophagy is a process of bulk degradation of cytoplasmic components by the lysosome or vacuole. Human ATG3 displays the same enzymatic characteristics in vitro as yeast Apg3, a protein-conjugating enzyme essential for autophagy (Tanida et al., 2002 [PubMed 11825910]).[supplied by OMIM] 737633,1643237,1643329,1580863,4889529 12477932,17353931,20562859,16704426,15592455,15489334,15144186,11825910,14702039,20697744,20723759,15355958,16303767 737633,1643237,1643329,4889529 64422 NM_022488,AC092692,CH471052,AB079384,AF202092,AK025778,AK307432,AK308919,AL137515,BC002830,BC024221,BC043267,CR594782,CR601674,CR608289,CR611179,CR619599,CR623472 NP_071933,EAW79668,EAW79669,EAW79670,EAW79671,BAB90843,AAG35611,BAB15237,CAB70781,AAH02830,AAH24221,Q9NT62,ABM84350,ABM87773 Hs.477126 APG3|APG3-LIKE|APG3L|DKFZp564M1178|FLJ22125|MGC15201|PC3-96 2610016C12Rik|APG3 autophagy 3-like|apg3 autophagy 3-like (s. cerevisiae)|autophagy Apg3p/Aut1p-like|autophagy-related protein 3|hApg3|ubiquitin-like-conjugating enzyme ATG3 protein-coding 2289735 ATG3P ATG3 autophagy related 3 homolog (S. cerevisiae) pseudogene 100135756 NG_007378,AY392024,AL121588 AGP3|ATG3P|dJ54G6.1 pseudo 1604759 ATG4A ATG4 autophagy related 4 homolog A (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. [provided by RefSeq] 1643329 12473658,15169837,12446702,17347651,15772651,15489334,14702039,12477932,17207965,20819778 1643329 115201 NM_052936,NM_178270,AL031177,CH471120,AB066214,AJ320508,AJ320509,AJ504651,AK054927,AK123287,AK293533,AK314429,BC041862,BC061696,BM541631,CR599663,CR607492,CR616947,CR625383,AA648264 NP_443168,NP_840054,CAI43137,CAI43138,CAI43141,CAI43142,EAX02689,EAX02690,EAX02691,EAX02692,EAX02693,EAX02694,EAX02695,EAX02696,BAB83889,CAC69076,CAC69077,CAD43218,BAG57015,BAG37044,AAH41862,AAH61696,Q8WYN0,ADQ32188 Hs.8763 APG4A|AUTL2 APG4 autophagy 4 homolog A|AUT-like 2 cysteine endopeptidase|AUT-like 2, cysteine endopeptidase|OTTHUMP00000023825|autophagin 2|autophagin-2|autophagy-related cysteine endopeptidase 2|autophagy-related protein 4 homolog A|cysteine protease ATG4A|hAPG4A protein-coding 1320126 ATG4B ATG4 autophagy related 4 homolog B (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1643329 17353931,10231032,15169837,15187094,12446702,19322194,17081983,16704426,16381901,16325851,16183633,16169070,15489336,15489334,15355958,14702039,12477932,11230166,11076863,19615732,20562859 1643329 23192 NM_178326,NM_013325,AC133528,CH471063,AB023160,AB066215,AJ504652,AK027332,AK027462,AK027763,AK123425,AK125277,AK296818,AK298109,AK302963,AK316167,AL050288,AL080168,AL133638,BC000719,BX648007,CR591579,CR591872,CR592790,CR595851,CR596663,CR600855,CR603562,CR604848,CR605379,CR605500,CR607059,CR607129,CR609224,CR609647,CR610655,CR616109,CR617577,CR619883,CR620961,CR621537,CR624104 NP_847896,NP_037457,AAY14919,EAW71278,EAW71279,EAW71280,EAW71281,BAA76787,BAB83890,CAD43219,BAB55042,BAB55127,BAB55353,BAG53904,BAC86110,BAG59391,BAG60394,BAG64112,BAH14538,CAB45756,AAH00719,CAH56198,Q63HN5,Q9Y4P1,CAL38626,ABM82795 Hs.283610 APG4B|AUTL1|MGC1353 APG4 autophagy 4 homolog B|AUT-like 1 cysteine endopeptidase|OTTHUMP00000200150|apg4 autophagy 4 homolog b (s. cerevisiae)|autophagin-1|autophagy-related cysteine endopeptidase 1|autophagy-related protein 4 homolog B|cysteine protease ATG4B|hAPG4B protein-coding 1317140 ATG4C ATG4 autophagy related 4 homolog C (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq] 1643329 12446702,18029348,18193044,17442669,15489334,20562859,14702039,12477932,16344560,8889548,20966902 1643329 84938 NM_032852,NM_178221,AC099794,AC103923,AC119425,CH471059,AJ312234,AJ320169,AK027773,BC008395,BC018678,BC033024,BI518482,CR599981,BM146035,BM720875,BQ777265,DB183325 NP_116241,NP_835739,EAX06579,EAX06580,CAC85556,CAC43939,BAB55356,AAH18678,AAH33024,Q05D29,Q96DT6,ABM83408,ABM86619 Hs.7353 APG4-C|APG4C|AUTL1|AUTL3|FLJ14867 APG4 autophagy 4 homolog C|AUT-like 1, cysteine endopeptidase|AUT-like 3 cysteine endopeptidase|apg4 autophagy 4 homolog c (s. cerevisiae)|autophagin-3|autophagy-related cysteine endopeptidase 3|autophagy-related protein 4 homolog C|cysteine protease ATG4C protein-coding 1348604 ATG4D ATG4 autophagy related 4 homolog D (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq] 1643329,1580863 17207965,12446702,15489334,14702039,12477932,9373149,8125298,19549685 1643329 84971 NM_032885,AC011461,CH471106,AJ312332,AK056210,AK223383,AK294676,AK314712,BC016845,BC068992,BC007639,AK316454 ADQ32084,NP_116274,EAW84116,EAW84117,EAW84118,EAW84119,CAC85951,BAB71121,BAD97103,BAG57839,AAH07639,AAH16845,AAH68992,Q53FA6,Q86TL0,Q969K0,Q96MZ6,BAH14825 Hs.512799 APG4-D|APG4D|AUTL4 APG4 autophagy 4 homolog D|AUT-like 4 cysteine endopeptidase|AUT-like 4, cysteine endopeptidase|apg4 autophagy 4 homolog d (s. cerevisiae)|autophagin-4|autophagy-related cysteine endopeptidase 4|autophagy-related protein 4 homolog D|cysteine protease ATG4D|cysteine protease involved in autophagy protein-coding 1353398 ATG5 ATG5 autophagy related 5 homolog (S. cerevisiae) 1580863,4889529,2301217 20697744,20529838,19783847,19838193,19881538,19901552,20038797,20379614,20580051,17207965,20962850,21068098,20562859,9852036,11096062,15292400,19375507,19197948,19194464,19148225,19124466,19066443,18353420,17353931,16341674,15778222,15489334,15342556,14702039,14574404,12703993,12665549,12482611,12477932,12417306,12207896,11825910,11725643,11349150,11266458,10702672,9563500,7796880,20190558 4889529,2301217 9474 AK299577,AK315800,BC002699,BC093011,BM831472,BP297166,BX537904,CR596348,CR601228,CR610160,CR749386,EU283338,NM_004849,AL022067,AL133509,AL138917,CH471051,AF293841,AK001899,EU283339,Y11588 BAH13072,AAH02699,AAH93011,CAD97890,CAH18236,ADQ32477,NP_004840,CAI42297,CAI42298,CAC19459,CAI42831,CAI20313,CAI20314,EAW48414,EAW48415,EAW48416,EAW48417,EAW48418,AAG44955,BAG50990,ABX79918,CAA72327,Q7Z3H3,Q9H1Y0 Hs.486063 APG5|APG5-LIKE|APG5L|ASP|hAPG5 APG5 (autophagy 5, S. cerevisiae)-like|APG5 autophagy 5-like|ATG5 autophagy related 5-like|OTTHUMP00000017825|apg5 autophagy 5-like (s. cerevisiae)|apoptosis specific protein|apoptosis-specific protein|autophagy protein 5 protein-coding 1312481 ATG7 ATG7 autophagy related 7 homolog (S. cerevisiae) This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq] 1643329,1643198,1580863,4889529 20697744,11096062,11825910,10233149,12890687,19148225,19124466,18688877,16344560,16303743,15489334,15342556,12477932,11890701,12482611,16704426,20562859,20543840,20083906,16303767,18029348,19881538,20379614 1643329,1643198,4889529 10533 NM_006395,NM_001136031,NM_001144912,AC020750,AC022001,AC026185,AC083855,CH471055,CQ783323,AF094516,AK075221,AK298833,AK303694,AK314504,AL122075,BC000091,BP373819,DA177126 NP_006386,NP_001129503,NP_001138384,EAW64093,EAW64094,EAW64095,EAW64096,EAW64097,CAF86536,AAC69630,BAG52088,BAG60963,BAG64682,BAG37104,CAB59250,AAH00091,O95352 Hs.726102 APG7-LIKE|APG7L|DKFZp434N0735|GSA7 APG7 autophagy 7-like|ATG12-activating enzyme E1 ATG7|apg7 autophagy 7-like (s. cerevisiae)|autophagy-related protein 7|hAGP7|ubiquitin activating enzyme E1-like protein|ubiquitin-activating enzyme E1-like protein|ubiquitin-like modifier-activating enzyme ATG7 protein-coding 1353328 ATG9A ATG9 autophagy related 9 homolog A (S. cerevisiae) 1643198,1580863,4889529 16940348,15755735,17081983,16381901,15489336,15489334,15342556,14702039,12477932,11230166,11076863,20819778,16169070,20379614 1643198,4889529 79065 NM_024085,NM_001077198,AC068946,CH471063,AK021732,AK025822,AK027448,AK056595,AK289755,AK302521,AK315553,AL833865,BC001098,BC001206,BC021202,BC065534,BK004018,BP284912,BX537984,BX538192,BX538198,CR617520 NP_076990,NP_001070666,EAW70706,EAW70707,BAB13882,BAB15246,BAB55119,BAG51759,BAF82444,BAG63795,CAD38723,AAH01098,AAH21202,AAH65534,DAA05199,CAD97944,CAD98061,CAD98064,Q7Z3C6,CAL38676 Hs.323363 APG9L1|MGD3208|mATG9 APG9 autophagy 9-like 1|APG9-like 1|OTTHUMP00000206062|apg9 autophagy 9-like 1 (s. cerevisiae)|autophagy 9-like 1 protein|autophagy-related protein 9A protein-coding 1352218 ATG9B ATG9 autophagy related 9 homolog B (S. cerevisiae) 1643198,4889529 15755735,19423521,19197948,15234981,14702039,12477932,19423540,19893488,19948975,20083107,20406964,20416077,20438785,19913121,20628086 1643198,4889529 285973 NM_173681,AC010973,AI243432,AI827483,AK096734,AY316116,AY515311,BC128587,BK004019,CR607530,CR613491 NP_775952,BAC04853,AAQ86941,AAS87212,AAI28588,DAA05200,Q674R7 Hs.707300,Hs.716846 APG9L2|NOS3AS|SONE APG9-like 2|autophagy 9-like 2 protein|autophagy-related protein 9B|endothelial nitric oxide synthase antisense|nitric oxide synthase 3 antisense|nitric oxide synthase 3-overlapping antisense gene protein|protein sONE protein-coding 1604792 ATHL1 ATH1, acid trehalase-like 1 (yeast) 16341674,15342556,15146197,12477932,19834535 80162 NM_025092,AC136475,CH471278,AI217945,AI919161,AK026288,AK074155,AK090428,AK296137,AL832932,BC048336,BC066641,BC109257,BC109258,BM842384,BP262327,CN298034 NP_079368,EAW61223,EAW61224,EAW61225,EAW61226,EAW61227,EAW61228,EAW61229,EAW61230,EAW61231,EAW61232,BAB15431,BAB84981,BAC03409,BAG58879,CAH56316,AAI09258,AAI09259,Q32M88,Q8NF51 Hs.353181 FLJ22635|MGC129858|MGC129859 OTTHUMP00000203396|OTTHUMP00000203397|acid trehalase-like protein 1 protein-coding 1352923 ATHS atherosclerosis susceptibility (lipoprotein associated) 1731344 470 731594 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 70804,1300048,1599355,1580863 8567683,17353931,19193698,19161160,19016697,18845790,17617058,17530705,17439323,17410198,17181924,17009228,14966129,12477932,11948179,11096114,9598063,9378707,8867801,1286667,20029029,16947783,16447238,16344560,15677700,15489334,15457444,15114530,14756553,1574589,19858780,19902562,19936946,19913121,20628086,20634891,20877624 70804,1599355 471 NM_004044,AC073284,CH471063,AB062403,AK290067,AK298142,AK313066,BC008879,CR594366,CR600478,CR601137,CR604622,CR606023,CR609807,CR612551,CR617706,D82348,D89976,DA074758,U37436,AA494525,DA043224,NG_013002 NP_004035,AAY24062,EAW70523,EAW70524,EAW70525,EAW70526,EAW70527,EAW70528,EAW70529,BAB93490,BAF82756,BAG60418,BAG35895,AAH08879,BAA11559,BAA21762,AAA97405,P31939,ABM84188,ABM87590 Hs.90280 AICAR|AICARFT|FLJ93545|IMPCHASE|PURH 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp|5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase|AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme|AICARFT/IMPCHASE|OTTHUMP00000206773|bifunctional purine biosynthesis protein PURH|phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase protein-coding 1352093 ATL1 atlastin GTPase 1 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 19768483,18664244,18644145,18446315,17531128,17502470,17427918,17420921,17380240,17321752,16815977,16401858,16344560,16339213,15742100,15596607,15517445,15489334,15477516,15184642,14695538,14607301,14506257,12939451,12508121,12499504,12477932,12112092,11685207,9373149,9110174,8619474,8252041,8125298,7825576,12387898,19735987,20718791,20932283,16533974,19423133,19459885,19573020,19652243,19665976,19724895,19730024,19851296,20125193,20198315,20200447 51062 NM_015915,NM_181598,NM_001127713,NG_009028,AL118556,AL606834,CH471078,CQ860306,AF131801,AF444143,AK223436,AK290185,AK312518,AL833591,AW674605,AY032844,BC010708,BG704589,BI601372,CR457153,CR599776,DA088230,DA397302,R61338 NP_056999,NP_853629,NP_001121185,EAW65705,EAW65706,EAW65707,EAW65708,EAW65709,CAH25961,AAD20047,AAL37898,BAD97156,BAF82874,CAH10392,AAK51160,AAH10708,CAG33434,Q53F53,Q69YH7,Q6IAK1,Q8WXF7 Hs.584905 AD-FSP|FSP1|GBP3|SPG3|SPG3A|atlastin1 GBP-3|GTP-binding protein 3|atlastin-1|brain-specific GTP-binding protein|guanine nucleotide-binding protein 3|guanylate-binding protein 3|hGBP3|spastic paraplegia 3 protein A protein-coding 1312973 ATL2 atlastin GTPase 2 737633,1580863 18270207,16344560,15517445,14702039,12477932,10508919,9373149,8125298,19665976 737633 64225 NR_024191,NM_022374,NM_001135673,AC016995,AF449187,CH471053,AK026946,AK124434,AK225190,AK294049,AK294711,AK302621,AK303985,AK308894,AK316179,BC039050,BC053508,CR617774,DA643528 NP_071769,NP_001129145,AAX88950,AAM97341,AAM97342,EAX00375,EAX00376,EAX00377,BAB15598,BAH11658,BAH11856,BAH13764,BAH14091,BAH14550,AAH53508,Q8NHH9 Hs.727652 ARL3IP2|ARL6IP2|FLJ23293|atlastin2 ADP-ribosylation factor-like 6 interacting protein 2|ADP-ribosylation factor-like protein 6-interacting protein 2|ADP-ribosylation-like factor 6 interacting protein 2|ARL-6-interacting protein 2|OTTHUMP00000201419|OTTHUMP00000201420|aip-2|atlastin-2 protein-coding 1601766 ATL3 atlastin GTPase 3 18270207,14702039,12477932,10737800,19665976 25923 NM_015459,AP000753,CH471076,AK023383,AK090822,AK094227,AK097588,AK301910,AL117600,BC077727,BE710391,BI829120,BX642720,CR936784,BX648468 NP_056274,EAW74161,EAW74162,EAW74163,BAB14552,BAC05111,BAG63336,CAB56010,AAH77727,Q6DD88 Hs.356719 DKFZp564J0863 atlastin 3|atlastin-3 protein-coding 1606040 ATM ataxia telangiectasia mutated The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1643349,1643350,1643351,2293870,2293869,2293868,2317367,2317363,2317234,2316155,2316156 20164679,20514472,20639198,20838624,11375976,9733515,11943150,7792600,10550055,10959836,11331603,12556884,12607003,19638463,19626602,19608766,19594747,19584272,19536649,19536092,19451263,19444312,19404735,19401701,19351817,19347964,19338747,19302790,19286843,19285939,19269030,19237606,19229246,19193393,19153073,19147782,19124506,19116388,19115993,19094228,19079347,19074885,19071136,19071090,19064990,19064572,19062161,19028473,18996087,18990761,18990028,18981219,18950845,18848520,18833288,18829552,18829510,18807267,18802408,18788070,18769144,18763866,18757420,18723444,18701470,18679419,18676680,18674748,18667510,18657500,18644470,18638378,18634022,18620545,18596698,18596239,18593932,18579371,18573109,18571408,18565893,18557994,18536714,18505428,18502988,18497957,18480045,18468965,18465141,18456456,18451257,18442975,18434398,18433505,18418045,18397884,18384426,18381943,18344987,18343821,18332866,18288488,18270339,18264724,18261794,18250156,18243662,18224251,18172300,18171990,18164969,18087222,18070599,18035414,17982490,17942393,17934520,17932249,17928013,17923702,17910737,17855027,17786248,17706468,17694070,17640065,17634426,17632790,17623063,17613764,17611684,17609267,17606465,17594478,17593081,17582598,17580311,17544403,17537652,17525732,17517479,17510082,17502119,17486112,17478428,17431766,17428792,17428325,17428320,17426037,17409195,17409144,17393301,17389389,17384681,17384674,17351744,17350468,17341604,17341484,17333338,17293864,17242184,17227291,17203191,17189255,17178844,17172861,17166884,17164260,17151932,17140287,17132159,17124492,17121863,17106266,17030982,17019709,17008050,17001622,16998505,16997395,16966185,16958054,16951182,16949371,16943424,16941484,16931761,16914028,16905549,16858402,16849332,16832357,16824197,16765197,16741947,16728507,16705183,16652348,16651613,16638864,16636671,16631604,16631465,16628006,16627474,16622469,16603769,16582589,16574953,16540648,16533773,16520463,16497931,16497724,16481012,16478990,16474843,16474151,16474133,16461339,16432227,16431910,16426903,16426422,16380133,16338099,16329039,16327781,16326028,16325375,16319535,16293623,16266405,16221684,16184611,16167060,16163388,16141325,16082221,16049814,16014569,16012708,15987456,15964848,15964794,15929992,15928302,15923642,15916964,15880721,15880680,15878096,15854902,15846060,15840767,15837784,15824150,15790808,15788536,15758953,15713674,15680327,15635413,15629612,15611093,15574327,15546863,15546858,15539948,15533933,15516988,15510216,15489221,15485651,15459181,15456891,15456759,15450731,15390180,15389585,15361830,15345673,15314656,15302935,15284180,15280931,15280449,15279808,15279780,15279777,15279774,15258567,15234984,15226443,15217510,15210935,15174027,15173573,15164409,15101044,15084244,15073328,15064416,15048089,15042666,15039971,15024084,14983937,14966265,14754616,14745549,14744854,14744762,14735203,14695534,14695186,14695167,14657032,14643952,14628072,14570874,14562025,14553952,14532133,14519663,12969974,12958068,12955071,12935922,12926986,12917204,12915485,12882767,12875964,12861053,12860021,12833146,12815592,12813460,12810666,12782595,12773400,12709442,12697768,12676583,12673126,12660173,12650908,12646636,12645530,12637545,12628935,12612651,12607005,12588975,12545170,12526805,12519769,12513844,12511424,12493754,12477932,12473594,12473176,12429935,12420214,12409306,12376469,12362033,12242661,12234250,12151394,12149228,12091354,12086603,12072552,12065055,12036913,12036888,12034743,12032824,12024051,11996792,11992555,11927575,11901158,11897822,11893489,11889466,11877377,11875057,11859564,11853558,11849780,11830610,11830600,11826028,11805335,11780126,11756551,11723136,11709713,11689934,11606401,11571274,11551930,11459832,11418864,11390642,11298136,11290740,11278964,11278446,11252893,11238919,11165203,11158303,11146653,11114888,10973490,10910365,10873394,10866324,10839545,10839544,10817650,10802669,10783165,10766245,10738255,10713094,10706620,10673501,10608806,10571946,10567403,10534763,10500142,10464290,10425038,10397742,10234507,10217116,10212258,10023947,9892178,9887333,9872980,9843217,9836640,9806882,9792410,9792409,9781027,9766667,9765199,9733514,9711876,9707615,9600235,9573030,9521587,9497252,9488723,9488043,9463314,9450874,9443866,9334731,9288106,9199932,9168117,9168116,9150358,9108147,9050866,9043869,8988033,8969240,8968760,8845835,8808599,8797579,8789452,8755918,8698354,8589678,8521392,7702088,7644499,3200306,2491181,2001833,16983346,19015526,15632067,15159397,9135004,11016625,12447390,14499622,15199141,15542845,12540856,11877376,15175154,20124459,20427287,20932475,20932476,20966255,20864035,21095582,20471956,20338046,20933509,21108427,21186350,20713054,15149599,16086026,16794575,16906133,16943440,17157788,17274640,17626748,18160036,18449195,18642075,18931676,19029835,19035176,19170196,19455703,19527713,19557000,19583974,19597488,19625176,19661334,19690177,19691550,19692168,19723050,19779458,19781682,19789190,19798429,19805520,19816404,19851285,19881958,19903823,19950226,19962312,19965871,19996108,20003485,20004998,20010693,20023412,20026654,20048340,20065354,20080624,20094034,20103595,20123963,20160076,20170971,20171797,20177397,20177704,20232390,20305132,20354815,20396981,20453000,20496165,20513533,20544271,20550933,9925639,16678111,18710941,20801936,21156285,19714462,19913121,20516478,20552631,20605201,20610542,20628086,20644561,20665102,20729006,20799949,20810650,20816691,20709753,17875758,20599567,16872911,19557330,20448412,20663147,20731661,20826828,21050672,21058196,21077165 1643349,1643350,1643351,2293870,2293869,2293868,2317367,2317363,2317234,2316155,2316156 472 HM437232,NM_000051,NG_009830,AP001925,AP005718,AY220758,CH471065,U55757,U67092,U82828,AB209133,AF035328,AK299843,BC007023,BC022307,BC061584,BC137169,BC152385,BC152389,BT006764,CR749436,U26455,U33841,U67093,X91196,Y08455 ADN43064,NP_000042,AAO26044,EAW67108,EAW67109,EAW67110,EAW67111,EAW67113,EAW67114,EAW67115,AAB38309,AAB38310,AAC51298,AAB65827,BAD92370,AAM09295,BAG61705,AAH61584,AAI37170,AAI52386,AAI52390,AAP35410,CAH18274,AAA86520,AAC50289,CAA62603,CAA69711,Q13315,Q59GH6,Q68DE6,Q6P7P1,Q8TDS0,Q96QM9,EAW67112 Hs.367437 AT1|ATA|ATC|ATD|ATDC|ATE|DKFZp781A0353|MGC74674|TEL1|TELO1 A-T mutated|AT mutated|TEL1, telomere maintenance 1, homolog|ataxia telangiectasia mutated (includes complementation groups A, C and D)|human phosphatidylinositol 3-kinase homolog|serine-protein kinase ATM protein-coding 1603699 ATMIN ATM interactor 8889548,19001856,18728389,18433721,17525732,15933716,15489334,12477932,9455477,20975950,19844255 23300 NM_015251,AC092718,CH471114,AB007891,AK025058,AK290943,AK301781,AK302556,BC002701,BI259534,BM693775,BX343387,BX375235,CF593326,CR624345,CR749457 NP_056066,EAW95549,EAW95550,EAW95551,EAW95552,BAA24861,BAF83632,BAH13552,BAH13741,AAH02701,CAH18291,O43313 Hs.16349,Hs.721999 ASCIZ|DKFZp779K1455|FLJ50270|FLJ61620|FLJ76795|KIAA0431|ZNF822 ATM INteracting protein|ATM interactor|ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein|ATM/ATR-substrate CHK2-interacting zinc finger protein|zinc finger protein 822 protein-coding 1352790 ATN1 atrophin 1 Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq] 1358440,1580863 10332026,9845282,9647693,9361003,9074930,8965642,8852663,8786114,8723724,8325628,8136840,8136826,7951323,7842016,7485154,16169070,14645126,9535906,9949204,20977674,11984006,7647802,10814707,19235102,19039037,18651325,18182848,17965145,17503969,17081983,16967484,16858508,16534126,16407196,16091834,15302935,15223312,15148151,14756671,12812981,12477932,12464607,11843701,11807410,11781699,11121205,10737800,16713569,17577209,20196398,20696395,16481466,20339376,20589872 1358440 1822 NM_001007026,NM_001940,NG_008047,CH471116,D63808,U47924,AW411230,BC051795,BE142829,BQ448220,BQ880124,BQ897715,BQ957462,D31840,D38529,U23851 NP_001007027,NP_001931,EAW88706,EAW88707,EAW88708,BAA23631,AAB51321,AAH51795,BAA06626,BAA07534,AAB50276,P54259,Q59FW4,Q86V38,ABZ92035 Hs.143766 B37|D12S755E|DRPLA|HRS|NOD atrophin-1|dentatorubral-pallidoluysian atrophy (atrophin-1)|dentatorubral-pallidoluysian atrophy protein protein-coding 1349240 ATOH1 atonal homolog 1 (Drosophila) This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq] 1580863 8872459,20621629,19243219,18275842,17826772,17549667,17397818,17241872,17000673,16831200,16647036,16382053,15489334,14757642,12477932,12209986,11889557,11748221,9449674,19741118,19924642 474 NM_005172,AC087413,CH471057,U61148,BC069145,BC069578,BC069594,BC069604,BC113623,BC113625 NP_005163,EAX06046,AAB41305,AAH69145,AAH69578,AAH69594,AAH69604,AAI13624,AAI13626,Q6ISE7,Q92858,ABZ91994,ADR82945 Hs.532680 ATH1|HATH1|MATH-1|bHLHa14 class A basic helix-loop-helix protein 14|helix-loop-helix protein hATH-1|protein atonal homolog 1 protein-coding 1312698 ATOH7 atonal homolog 7 (Drosophila) ATOH7 is a member of the family of basic helix-loop-helix (bHLH) proteins with similarity to Drosophila 'atonal,' a proneural bHLH gene that controls photoreceptor development (Brown et al., 2002 [PubMed 11889557]).[supplied by OMIM] 1580863 14516699,12617822,12477932,11889557,20395239,20548946 220202 NM_145178,AC016395,AF418922,CH471083,BC032621,BK000277 NP_660161,AAL11911,EAW54269,AAH32621,DAA01057,Q8N100,ABM82115,ABM85298 Hs.175396 Math5|bHLHa13 class A basic helix-loop-helix protein 13|hATH5|helix-loop-helix protein hATH-5|protein atonal homolog 7 protein-coding 1350083 ATOH8 atonal homolog 8 (Drosophila) 737633 16344560,14702039,12477932,12419857,8889548,19913121,20628086 737633 84913 NM_032827,AC012454,CH471053,CQ783576,AF529205,AK027614,AK074681,AK096049,AL831857,BC021207,BC094832,BM671127,BQ018438,DA629171,AC105053 NP_116216,EAW99481,EAW99482,CAF86744,AAO85773,BAB55233,BAC11135,CAH56263,AAH21207,AAH94832,Q96SQ7 Hs.135569 FLJ14708|FLJ38730|HATH6|bHLHa21 atonal homolog 6|basic helix loop helix transcription factor 6|basic helix-loop-helix transcription factor 6|class A basic helix-loop-helix protein 21|helix-loop-helix protein hATH-6|protein atonal homolog 8 protein-coding 737338 ATOX1 ATX1 antioxidant protein 1 homolog (yeast) This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq] 1580863 9430722,15670166,19146392,18685091,18558714,18416466,18245776,17881304,17616150,17545667,16571664,16172131,15761197,15489334,15476398,15146197,14709553,14702039,12763797,12686548,12679332,12594858,12477932,12420134,10982193,10966647,10557326,9083055,12029094,10497213,15133031,19453293 475 NM_004045,AC011374,AC091982,AY165037,AY986502,CH471062,AK091843,AK293063,BC112248,BC112250,BI599233,BT009786,BU172675,CN280769,CR456901 NP_004036,AAN84554,AAX81411,EAW61663,EAW61664,BAF85752,AAI12249,AAI12251,AAP88788,CAG33182,O00244,Q6IBA3,ADR82784 Hs.125213 ATX1|HAH1|MGC138453|MGC138455 atx1 (antioxidant protein 1) homolog 1 (yeast)|copper transport protein ATOX1|metal transport protein ATX1 protein-coding 1314601 ATP10A ATPase, class V, type 10A The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq] 1580863 11353404,19086053,18726118,18186074,19851296,20198315,20379614,15071553,15919184,12477932,12105293,11326269,11015572,10482951,9628581,20609483,15489334 57194 NM_024490,NG_009282,AC016266,AC023449,AC109512,AY029487,AY029504,CH471151,AB011138,AB051358,BC038712,BC052251 NP_077816,AAK33100,EAW57647,EAW57648,EAW57649,EAW57650,BAA25492,BAB47392,AAH38712,AAH52251,O60312,Q4G0S9,ACE87179,ACE86498 Hs.659258 ATP10C|ATPVA|ATPVC|KIAA0566 ATPase type IV, phospholipid transporting (P-type)|ATPase, Class V, type 10C|aminophospholipid translocase VA|phospholipid-transporting ATPase VA|probable phospholipid-transporting ATPase VA protein-coding 1345428 ATP10B ATPase, class V, type 10B 1580863 11015572,9872452,15372022,14702039,12477932 23120 NM_025153,AC008388,AC008456,AC011363,AC091928,AB018258,AK024894,AK025130,AK025290,AK025294,AK090832,AK295081,BC018773,BC108322 NP_079429,BAA34435,BAB15074,BAC03528,BAG58123,AAI08323,O94823,Q2YDW8,AAI67815 Hs.109358 ATPVB|FLJ21477|KIAA0715 probable phospholipid-transporting ATPase VB protein-coding 1316047 ATP10D ATPase, class V, type 10D 1580863 12532265,14702039,12477932,10819331,19798445,20379614,20877624,15071553,15919184 57205 NM_020453,AC092597,AC107398,CH471069,AB040920,AJ441078,AK027598,AK074930,BC057839,BC131535 NP_065186,EAW93036,EAW93037,BAA96011,CAD29577,BAB55221,BAC11299,AAH57839,AAI31536,Q6PEW3,Q9P241 Hs.437241 ATPVD|KIAA1487 probable phospholipid-transporting ATPase VD|type IV aminophospholipid transporting ATPase protein-coding 1318606 ATP11A ATPase, class VI, type 11A The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15533723,15057823,14702039,12477932,11015572,10470851,20043114,20379614,20858683 23250 NM_015205,NM_032189,AL139384,AL162711,AL356740,AL356752,CH471085,AB028944,AI703438,AK024264,AK025511,AK091253,AK128241,AL161996,BC008824,BC024154,BC035215,BC044649,BE675783 NP_056020,NP_115565,CAI16947,CAH70242,CAI16578,CAI16579,EAX09171,BAA82973,BAB15157,CAH56364,AAH24154,P98196,Q5T556,Q659C3,Q6PJ25,Q9H6U5,AAI67794,CAM13071,CAM13072 Hs.29189 ATPIH|ATPIS OTTHUMP00000018729|OTTHUMP00000062144|phospholipid-translocating ATPase|potential phospholipid-transporting ATPase IH|probable phospholipid-transporting ATPase IH protein-coding 1348822 ATP11B ATPase, class VI, type 11B P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM] 1580863 11790799,11015572,16641997,15489334,14702039,12477932,10737800,10231032,15071553,15919184 23200 NM_014616,AC069431,AC092953,CH471052,AB023173,AF156548,AK093727,AK296750,AK304855,AL133061,BC010630,BC033880,BC042180,BF372979,BI861412,BU431705,BX489704,BX537779 NP_055431,EAW78344,EAW78345,EAW78346,EAW78347,BAA76800,AAF09446,BAG52754,BAG59333,BAG65593,CAB61385,AAH10630,AAH33880,AAH42180,CAD97838,Q7Z678,Q8N4L6,Q9Y2G3,AAI48559 Hs.478429 ATPIF|ATPIR|DKFZp434J238|DKFZp434N1615|KIAA0956|MGC46576 ATPase IR|OTTHUMP00000212753|probable phospholipid-transporting ATPase IF protein-coding 1351598 ATP11C ATPase, class VI, type 11C 1580863 15772651,15533723,14702039,12477932,11015572,10737800,8034313,15071553,15919184,16344560 286410 AK091552,AK093835,AK125474,AK125476,AK125986,AK131262,BC132728,BC132730,BX648320,BX648981,D16467,NM_001010986,NM_173694,AL161777,AL356785,AL590077,CH471150,AJ580093,AJ580094,AA829385,DB348089,NG_016550 BAC03692,BAC86172,BAC86377,BAD18440,Q8NB49,AAI72372,NP_001010986,NP_775965,CAI39713,CAI39714,CAI39716,CAI41444,CAI41447,CAI40418,EAW88424,EAW88425,CAE30472,CAE30473,CAI41446 Hs.88252 ATPIG|ATPIQ OTTHUMP00000024161|phospholipid-transporting ATPase IG|probable phospholipid-transporting ATPase IG protein-coding 734042 ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. [provided by RefSeq] 1300048,704409,1580863,704405 8838794,16344560,15135233,15086469,12477932,12230809,12110518,11880279,9872395,8889548,8045293,3036582,3035563,2842249,1847115,19487957,19694409,20379614,15071553 704409 479 AK292968,AK303498,BC031609,CA450333,DB232979,M16797,U02076,AL157364,CH471075,L42558,L42559,L42560,L42561,L42562,L42563,L42565,L42566,L42567,L42568,L42569,M27574,X69823,X69824,NM_001676,DB216724,NM_001185085 CAA49478,BAF85657,BAG64531,AAH31609,AAA51802,NP_001667,CAH72440,EAX08343,EAX08344,EAX08345,EAX08346,AAC37589,AAA35576,CAA49477,AAB37755,P54707,NP_001172014 Hs.147111 ATP1AL1 ATPase, Na+/K+ transporting, alpha polypeptide-like 1|ATPase, Na+K+ transporting, alpha-1 polypeptide-like|non-gastric H(+)/K(+) ATPase alpha subunit|non-gastric H(+)/K(+) ATPase subunit alpha|potassium-transporting ATPase alpha chain 2|proton pump|sodium/potassium ATPase, alpha polypeptide-like 1643387 BW328_H protein-coding 1346886 ATP13A1 ATPase type 13A1 17081983,16344560,16335952,15489334,14702039,12477932,11347906,19913121,20628086 57130 AK095287,AK123780,AK125861,AK130125,AK172778,AL834180,BC009302,BC069211,CR614625,DA103408,AK074920,NM_020410,AC011458,CH471106,AB058728,AF288687,AK026044,AK056420,AK074159,AK074798 BAC11294,BAG53019,BAC85690,BAC86325,BAD18759,CAD38877,AAH09302,AAH69211,Q6NT90,Q6ZMG7,Q6ZUA1,Q8N3E5,Q8NC73,Q8TEG5,Q9HD20,AAI56251,NP_065143,EAW84847,EAW84848,EAW84849,EAW84850,EAW84851,EAW84852,EAW84853,EAW84854,BAB47454,AAG01173,BAB15334,BAG51704,BAB84985 Hs.501794 ATP13A|CGI-152|DKFZp761L1623|FLJ31858|FLJ41786|FLJ43873|FLJ90317|KIAA1825 cation transporting ATPase|probable cation-transporting ATPase 13A1 protein-coding 1342911 ATP13A2 ATPase type 13A2 This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 20816920,20669327,21060012,20310007,19224617,19097176,19085912,19015489,18785233,18413573,17485642,16964263,16710414,15489334,15381061,12477932,11584046,19705361,19806583,20036179,20137506,20189936,20227461,20483373,20976737 23400 AY461712,AY987009,BC030267,BC034575,CR613271,NM_022089,NM_001141974,NM_001141973,NG_009054,AL049569,CH471134,AJ009947,AK025928,AK075310,AK290210,AL354615,AL833966 AAR23423,AAX88804,AAH30267,AAH34575,Q52PK6,Q5JXY1,Q6S9Z9,Q8N4D4,Q8NBS1,Q9NQ11,NP_071372,NP_001135446,NP_001135445,CAI20366,CAI20367,EAW94824,EAW94825,EAW94826,EAW94827,CAA08912,BAC11539,BAF82899,CAB89728,CAD38813 Hs.128866 FLJ26510|HSA9947|KRPPD|PARK9|RP1-37C10.4 probable cation-transporting ATPase 13A2|putative ATPase protein-coding 1353842 ATP13A3 ATPase type 13A3 ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM] 1580863 17081983,16641997,16344560,16303743,15342556,14702039,12477932,11867234,9373149,8175911,8125298,19913121,20628086 79572 NM_024524,AC108676,AC125362,AJ306929,AK024639,AK075094,AK225064,BC037805,BC106085,BP313821,BX641098,DA852339,DR005713,DR423199,DV080200,Z24724 NP_078800,CAC84902,BAB14942,BAC11398,Q9H7F0,AAI66610 Hs.529609 AFURS1|DKFZp686K16189|FLJ90613 ATPase family homolog up-regulated in senescence cells 1|OTTHUMP00000209099|probable cation-transporting ATPase 13A3 protein-coding 1346317 ATP13A4 ATPase type 13A4 1580863 15925480,14702039,12975309,12477932 84239 NM_032279,AC048351,AC092942,AC105057,CH471052,AK095277,AK096510,AL512736,AY358110,AY823162,BC101496,BC143604 NP_115655,EAW78073,EAW78074,EAW78075,BAC04520,BAG53309,CAC21667,AAQ88477,AAX24102,AAI01497,Q4VNC1 Hs.674423 DKFZp761I1011|MGC126545 P5-ATPase|cation-transporting P5-ATPase|probable cation-transporting ATPase 13A4 protein-coding 1343803 ATP13A5 ATPase type 13A5 15925480,12975309 344905 NM_198505,AC105057,CH471052,AK122613,AY358667,AY823163,BC033334 NP_940907,EAW78076,EAW78077,BAC85490,AAQ89030,AAX24103,Q4VNC0,AAI56653 Hs.658032 FLJ16025 P5-ATPase|probable cation-transporting ATPase 13A5 protein-coding 735332 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1579863,1580863,1579862 11027149,15671290,1975705,19109419,19058785,18801933,18769045,18768923,18348163,18094063,17881356,17446437,17446412,17176442,17081065,16893516,16723354,16710414,16708288,16498080,16430714,16243970,16230337,15515123,15489334,15383549,15069082,14993422,14759258,14685860,14597563,14555664,14522987,12788896,12671055,12477932,12461183,12093728,12031509,11926353,11887161,11832419,11564973,11509477,11404365,11139403,10516168,10473631,9481617,9159180,8918259,8833915,8391840,8082931,7775468,7711835,7536695,3036582,3035563,3030810,2891135,2887455,2842249,2158121,1970326,19019082,16169070,2430951,16730713,16799092,17220478,19638348,19751721,19863947,19865785,20065300,20332111,15071553,19913121,20450619,20628086,20427472,21043236 1579863,1579862 476 NM_001160233,NM_001160234,AL136376,CH471122,L76938,M27572,M27579,M30310,AK293689,AK295095,AK296362,AK296384,AK308418,AK314777,AL531892,AY642124,AY946013,BC001330,NM_000701,BC003077,BC050359,BF795089,CR614469,CR622256,CR622871,DC335233,J03007,M16793,M16794,U16798 NP_000692,NP_001153705,NP_001153706,CAI22199,CAI22200,CAI22201,CAI22202,EAW56644,EAW56645,EAW56646,EAW56647,EAW56648,AAA92713,AAA35573,AAA35574,AAA51801,BAH11571,BAH11971,BAH12332,BAH12337,BAG37313,AAX55908,AAH01330,AAH03077,AAH50359,AAA51803,AAD56251,AAD56252,AAC50131,P05023,Q58I23,Q5TC01,Q5TC02,Q5TC05,Q694B2,ABM82808,ABW03450 Hs.371889 MGC3285|MGC51750 Na(+)/K(+) ATPase alpha-1 subunit|Na+, K+ ATPase alpha subunit|Na+/K+ ATPase 1|Na, K-ATPase, alpha-A catalytic polypeptide|Na,K-ATPase alpha-1 subunit|Na,K-ATPase catalytic subunit alpha-A protein|sodium pump 1|sodium pump subunit alpha-1|sodium-potassium-ATPase, alpha 1 polypeptide|sodium/potassium-transporting ATPase subunit alpha-1 protein-coding 736008 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq] 1580863,1358436,1601253,1601250,1601251,1601252,1601254 20837964,20720542,12539047,10642400,19199261,19058785,19007941,18957371,18811707,18728015,18644608,18513263,18498390,18483709,18451712,18294248,18184292,18056581,18052210,18028456,18028407,17952365,17877748,17727731,17473835,17446412,17119788,16538223,16508935,16508934,16437583,16430714,16344560,16344534,16110494,16088919,16037212,16026932,15911117,15569317,15159495,15133718,14871878,14702039,14690302,14685860,14667076,12953268,12805306,12529322,12496141,12477932,11404365,11257061,10372716,9872452,9579893,9403481,9373149,9159180,8391840,8125298,3036582,3035563,2842249,2537767,2477373,2158121,15174025,15489334,15459825,15383549,15308625,15286158,15210532,19372756,19638348,19751721,19874388,20065300,20100892,15071553,19913121,20628086,20952631 1358436,1601253,1601250,1601251,1601252,1601254 477 NM_000702,NG_008014,AL121987,CH471121,J05096,M27578,AB018321,AK091617,AK124581,AK126573,AK295048,AK295729,AK299460,AK308773,AK314296,AL831991,AL831997,AY946014,BC013680,BC047533,BC052271,DA221602,EB386326,M16795,Y07494 NP_000693,CAI15271,CAI15272,CAI15273,EAW52739,EAW52740,EAW52741,EAW52742,AAA51797,AAA35575,BAA34498,BAG52393,BAG54055,BAG54347,BAG58098,BAG58570,BAG61427,BAG36951,AAX55909,AAH52271,AAA51799,CAA68793,P50993,Q58I22 Hs.34114 FHM2|MGC59864|MHP2 Na(+)/K(+) ATPase alpha-2 subunit|Na+/K+ ATPase, alpha-A(+) catalytic polypeptide|Na+/K+ ATPase, alpha-B polypeptide|OTTHUMP00000038365|sodium pump subunit alpha-2|sodium-potassium ATPase|sodium/potassium-transporting ATPase alpha-2 chain|sodium/potassium-transporting ATPase subunit alpha-2 1643514,2289625 BW260_H,BW481_H protein-coding 732644 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. [provided by RefSeq] 1580863,1358437 20576601,15260953,19058785,18957371,18184478,17595045,17516473,17446412,17282997,17244347,16713569,15489334,15462673,14702039,12634653,12477932,10443882,9373149,8125298,3036582,3035563,3030810,2907504,2887455,2842249,2838329,2834163,2158121,19351654,19751721,20065300,15071553,16712791,21072501 1358437 478 NM_152296,NG_008015,AC010616,CH471126,M27577,M28286,M28293,M37457,X12910,AK054736,AK094628,AK122693,AK223569,AK293784,AK295078,AK295833,AK296557,AK307921,AK316069,AL832884,AY946015,BC009282,BC009394,BC013763,BC015566,BX478337,CB156520,CR593240,CR596494,CR602384,CR609841,CR615216 NP_689509,EAW57089,AAA58380,AAA52285,AAA52286,AAA51798,CAA31390,BAG51420,BAG52899,BAG53671,BAD97289,BAH11595,BAH11966,BAH12194,BAH12387,BAH14440,AAX55910,AAH09282,AAH09394,AAH15566,P13637,Q53ES0,Q58I21 Hs.515427 DYT12|MGC13276|RDP Na(+)/K(+) ATPase alpha(III) subunit|Na(+)/K(+) ATPase alpha-3 subunit|Na+/K+ ATPase 3|OTTHUMP00000174456|sodium pump 3|sodium pump subunit alpha-3|sodium-potassium-ATPase, alpha 3 polypeptide|sodium/potassium-transporting ATPase alpha-3 chain|sodium/potassium-transporting ATPase subunit alpha-3 protein-coding 733097 ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 7809153,12112599,16894555,16710414,16344560,16175638,15489334,14702039,12763850,12477932,12119109,10764792,10227850,3036582,3035563,2887455,2158121,1981991,15071553 480 NM_144699,NM_001001734,AF310646,AF352828,AF390027,AF421887,AF430843,AL121987,AY039031,CH471121,U15286,AF459737,AF506797,AK098076,AK308286,AL833335,BC028297,BC036052,BC068570,BC094801,BX647234,CR605608,DB094047,M16796 NP_653300,NP_001001734,AAK72396,AAM20793,AAL35818,CAI15274,CAI15275,EAW52737,EAW52738,AAA60941,AAL66357,AAQ07964,BAC05228,AAH94801,AAA51800,Q13733,Q13818,AAH28297 Hs.662219 ATP1A1|ATP1AL2|MGC25056 ATPase, Na+/K+ transporting, alpha polypeptide-like 2|Na(+)/K(+) ATPase alpha-4 subunit|Na+/K+ ATPase 4|Na+/K+ ATPase, alpha-D polypeptide|Na,K-ATPase subunit alpha-C|sodium pump 4|sodium pump subunit alpha-4|sodium/potassium-transporting ATPase alpha-4 chain|sodium/potassium-transporting ATPase subunit alpha-4 protein-coding 735774 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 2559024,19305409,19064610,18727914,17947299,16710414,16696853,16478973,16430714,16339171,16230337,15606899,15489334,15086469,14597563,12754519,12477932,12093728,7536695,7499094,3008098,2887455,2842249,2555225,2538450,11534180,11193188,2158121,1301170,16169070,12558975,16799092,18522992,19322565,19536175,19542013,19563793,19694409,20065300,20453000,15071553,19913121,20628086,16341674 481 NM_001677,AL031726,CH471067,M25160,X17161,AA507932,AA514770,AK290181,AK296059,AK316043,AY545986,AY946016,BC000006,BE223067,BG702024,BM762099,BQ934151,BT009787,CD106723,CD722755,CR407616,CR596103,CR622201,U16799,NG_023230,HI573972 NP_001668,CAI18888,EAW90832,EAW90833,AAA36352,CAA35040,BAF82870,BAG58822,BAH14414,AAT11781,AAX55911,AAH00006,AAP88789,CAG28544,AAC50132,P05026,Q58I20,Q6LEU2,CBX47475 Hs.291196 ATP1B|MGC1798 Beta 1-subunit of Na(+),K(+)-ATPase|Na, K-ATPase beta-1 polypeptide|OTTHUMP00000032538|adenosinetriphosphatase|atpase na+/k+ transporting beta 1 polypeptide|sodium/potassium-dependent ATPase beta-1 subunit|sodium/potassium-transporting ATPase beta-1 chain|sodium/potassium-transporting ATPase subunit beta-1 1643514,2289625 BW260_H,BW481_H protein-coding 736555 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. [provided by RefSeq] 1580863 11027149,2538450,18676680,17683073,17411440,16865689,16430714,15489334,15294280,12539047,12477932,11193188,10662545,9524271,9159180,8918259,8889548,8305453,7711835,2158121,1699290,1688561,12958655,12558975,19170196,19625176,19692168,20065300,19764716,19371356,15071553,20937802 482 NM_001678,AC007421,AF007876,CH471108,AK290143,AL120033,AL532023,AY946017,BC035801,BC126175,BG708115,BM664502,BM703745,BM925700,BQ718053,CD671350,D87330,M81181,U45945 NP_001669,AAC39686,EAW90147,EAW90148,BAF82832,AAX55912,AAI26176,AAA51805,AAC50873,P14415,Q58I19,ADR82909 Hs.643540 AMOG Na, K-ATPase beta-2 polypeptide|adhesion molecule on glia|sodium/potassium-dependent ATPase beta-2 subunit|sodium/potassium-dependent ATPase subunit beta-2|sodium/potassium-transporting ATPase beta-2 chain|sodium/potassium-transporting ATPase subunit beta-2 protein-coding 733031 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. 1580863 17353931,8798450,17446412,17176442,17081065,15489334,14702039,12754519,12477932,12456588,9457675,6289898,2158121,12558975,20065300,15071553 483 BI462090,CR595788,CR618676,U51478,BC011835,NM_001679,AC112504,AF005896,CH471052,AK094673,AK131061,AY946018,BC001469,AK293697 AAH11835,AAC50665,P54709,Q58I18,NP_001670,AAB61713,EAW78982,EAW78983,EAW78984,EAW78985,EAW78986,EAW78987,EAW78988,EAW78989,AAX55913,BAH11573 Hs.477789 ATPB-3|CD298|FLJ29027 Na, K-ATPase beta-3 polypeptide|sodium/potassium-dependent ATPase beta-3 subunit|sodium/potassium-dependent ATPase subunit beta-3|sodium/potassium-transporting ATPase beta-3 chain|sodium/potassium-transporting ATPase subunit beta-3 protein-coding 1348014 ATP1B3P1 ATPase, Na+/K+ transporting, beta 3 pseudogene 9457675 484 NG_000849,AC012498,AF005898 AAB61675 pseudo 736275 ATP1B4 ATPase, (Na+)/K+ transporting, beta 4 polypeptide 631939,1580863 10456317,17592128,16430714,16344560,15489334,12477932 631939 23439 NM_012069,AC006962,CH471107,AA436959,AF158383,AF158384,BC117227,BC143404,BC143406,BC143407,DA895576,NM_001142447,AK309999,NG_016773 NP_001135919,NP_036201,EAX11885,EAX11886,AAD49692,AAD49693,AAI17228,AAI43405,AAI43407,AAI43408,Q9UN42,ADR83150 Hs.292599 X,K-ATPase beta-m subunit|protein ATP1B4|x/potassium-transporting ATPase subunit beta-m protein-coding 1352922 ATP1BL1 ATPase, Na+/K+ transporting, beta polypeptide-like 1 2842249,2559024 485 NG_001081,AC113151,M25159 ATP1BL1 pseudo 731640 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 734618 9405806,8729696,9295312,12479237,8841193,19079260,19061639,18953100,18947188,17728322,17010426,16933204,16754798,16642550,16410239,16192278,15972723,15767202,15718407,14702039,14638697,12975374,12692302,12525698,12477932,11526231,11438520,10914677,10551848,9642673,9575189,9367679,8889548,8825625,2936465,2842876,1746562,12032137,11402072,1329967,19644701,8040329,15071553 734618 487 BX537389,BX537784,BX647365,BX647366,BX647367,BX647368,BX648544,BX649072,NM_004320,NM_173201,AC109460,AC133550,CH471267,U96773,U96781,AK092691,AK128456,AK291314,BC037354,BC104452,BC104453,BU737186,NG_023327,HB975088,HD032498 CAD97631,CAD97841,O14983,Q7Z675,Q7Z6E5,Q8N3X5,AAI48654,NP_004311,NP_775293,EAW52006,AAB53112,AAB53113,BAG52597,BAG54679,BAF84003,AAH37354,CBG22289,CBV35450 Hs.657344 ATP2A|SERCA1 SR Ca(2+)-ATPase 1|calcium pump 1|calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform|endoplasmic reticulum class 1/2 Ca(2+) ATPase|sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein-coding 731733 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 734619 12804600,2844796,10080178,19095005,19327826,19252085,18979109,18971376,18953100,18482030,18464913,18295663,18279980,18164028,18071073,18068335,17635506,17597815,17588601,17526652,17515962,17506935,17439322,17395056,17257557,17234728,17116488,17081983,17009399,16987514,16973504,16965263,16958257,16899508,16766529,16754798,16675202,16669348,16552539,16410239,16402920,16368801,15927817,15718407,15582584,15489334,15316170,15302935,15215242,15186327,14749390,14702039,14638697,12975374,12925205,12805933,12670936,12659872,12542527,12479238,12477932,12072062,18658259,18591429,11945024,11854448,11725862,11526231,11402072,11244492,11121153,10809745,10441325,10441324,10441323,9788433,9295312,20528919,19019082,12032137,17353931,8406504,7929371,15489859,19502158,19541629,19644701,19649297,19650915,19671701,20139366,20223560,20423818,15071553,19913121,20204653,20628086,20687374,19962989,20716843 734619 488 NM_001681,NM_001135765,NG_007097,AC006088,CH471054,M23116,M23278,AK000300,AK095382,AK293877,AY186578,BC035588,BC065753,BG773489,BI553880,BX648282,M23114,M23115,NM_170665 NP_001672,NP_001129237,EAW97902,EAW97903,EAW97904,EAW97905,EAW97906,EAW97907,AAA52757,AAA52758,BAG57266,AAO47398,AAH35588,AAA53193,AAA53194,P16615,NP_733765 Hs.506759 ATP2B|DAR|DD|DKFZp686P0211|FLJ20293|FLJ38063|MGC45367|SERCA2 ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2|SR Ca(2+)-ATPase 2|calcium pump 2|calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform|cardiac Ca2+ ATPase|endoplasmic reticulum class 1/2 Ca(2+) ATPase|sarcoplasmic/endoplasmic reticulum calcium ATPase 2 protein-coding 732893 ATP2A3 ATPase, Ca++ transporting, ubiquitous This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 68726 8809064,17353931,17474147,19135027,19100511,18947868,18295663,18068335,16973504,16725111,16410239,16250893,15972967,15489334,15028735,12665801,12540840,12524443,12503734,12477932,12207029,11986315,11956212,9843705,9593748,8288608,19225163,19650915,15071553,19962989 68726 489 NM_005173,NM_174957,NM_174956,NM_174958,NM_174953,NM_174955,NM_174954,AC005940,CH471108,Y15724,Y15737,Y15738,Z69880,AF068220,AF068221,AF458228,AF458229,AK292716,AY460339,BC035729,S68239,Z69881 NP_005164,NP_777617,NP_777616,NP_777618,NP_777613,NP_777615,NP_777614,EAW90460,EAW90461,EAW90462,EAW90463,EAW90464,EAW90465,EAW90466,EAW90467,EAW90468,EAW90469,EAW90470,CAA75739,CAA75747,CAA75748,CAA93736,AAC24525,AAC24526,AAL78967,AAL78968,BAF85405,AAR15415,AAH35729,AAB29700,CAA93737,Q6JHX1,Q93084,ABM84243,ABW03610 Hs.513870 SERCA3 ATPase, Ca(2+)-transporting, ubiquitous|SR Ca(2+)-ATPase 3|adenosine triphosphatase, calcium|calcium pump 3|calcium-translocating P-type ATPase|sarco/endoplasmic reticulum Ca2+ -ATPase|sarco/endoplasmic reticulum Ca2+ ATPase|sarcoplasmic/endoplasmic reticulum calcium ATPase 3 protein-coding 732984 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863,2317726 1332771,20921432,8396145,19430479,19396169,19144698,19070897,19017653,18929409,18657858,17081983,16933204,16669348,16488415,16412504,16328033,15911623,15101689,12851406,12784250,12477932,11786550,11152753,10748016,10493800,9110174,9020386,8889548,8634322,8619474,8386431,8245032,7989379,7694502,2844759,2548572,2528729,1827443,1674727,12763866,19840794,19892708,19960030,20414254,20479155,20700443,15071553,19913121,20628086,20852445,21045733 2317726 490 NM_001682,NM_001001323,AC025034,AC068641,CH471054,L14561,M25824,AB208896,AF070606,AK024895,AK027053,AK308723,AY740526,BC015346,BM974301,CR598557,CR624114,DQ201776,J04027,M95541,M95542,S49852,U15686,U15687 NP_001673,NP_001001323,EAW97429,EAW97430,EAW97431,EAW97432,EAW97433,EAW97434,AAD09924,AAD09925,AAA58381,AAA58382,AAA58383,BAD92133,AAV41065,AAH15346,ABG24240,AAA74511,AAA35999,AAA36000,AAB24324,AAA60983,AAA60984,P20020,Q3L582,Q58F24,Q59H63 Hs.506276 PMCA1|PMCA1kb plasma membrane calcium ATPase|plasma membrane calcium pump|plasma membrane calcium-ATPase|plasma membrane calcium-transporting ATPase 1 protein-coding 736839 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 1313367,11259493,15829536,15765049,19379709,19299509,19043545,17488275,17234811,16216224,15926914,15101689,12784250,12763866,12624087,12477932,12107410,11786550,11274188,11152753,9697703,9668038,8634322,8428366,8245032,8187550,8162598,7989379,1827443,1427863,19850283,20379614,7929331,20211863,20663896,15071553,19913121,20628086 491 L20977,M97260,R53305,S95738,S95743,S95758,U15688,X63575,NM_001001331,NG_012046,AC018839,AC022384,AC090841,CH471055,S95783,AA197323,AB210008,AK308898,AL134596,AM491813,BC019853,BC128575,BX489007,CA391502,CK023951,DQ201777,DQ201778,L00620,NM_001683,FB292361 AAA50877,AAA36456,AAA08378,AAA08377,AAA08376,AAA60985,CAA45131,Q01814,Q4J696,Q4J697,Q4J698,Q4J699,Q4LE63,NP_001674,NP_001001331,EAW64079,EAW64080,EAW64081,EAW64082,EAW64083,EAW64084,AAZ04475,BAE06090,CAM33440,ABG24241,ABG24242,AAA51893,CAP58599 Hs.268942 PMCA2|PMCA2a|PMCA2i OTTHUMP00000158863|OTTHUMP00000178535|OTTHUMP00000178537|OTTHUMP00000222615|plasma membrane Ca(2+)-ATPase|plasma membrane Ca2+ pump 2|plasma membrane calcium ATPase|plasma membrane calcium pump|plasma membrane calcium-transporting ATPase 2 protein-coding 731628 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 10854409,8889548,8634322,8245032,8187550,7989379,1531651,12477932,11152753,12784250,8765088,18029348,17336174,15101689,14702039,19733838,15071553 492 NM_021949,NM_001001344,AF060496,AF274858,CH471172,AK090838,AK094500,AK130194,AK307765,AK308705,BC047580,BC130009,BG739902,BM680649,BM695792,BM805938,BM986989,BQ878721,BU183973,BU790224,BU790521,DQ201779,U15689,U15690,U57971,U60414,NG_015896 NP_068768,NP_001001344,AAC15078,EAW72858,EAW72859,EAW72860,BAC85302,AAI30010,ABG24243,AAA60986,AAA60987,AAB09762,AAB38530,Q16720,Q6ZP23 Hs.533956,Hs.658008 PMCA3|PMCA3a OTTHUMP00000025916|OTTHUMP00000025917|OTTHUMP00000025918|plasma membrane calcium ATPase|plasma membrane calcium pump|plasma membrane calcium-transporting ATPase 3 protein-coding 1348952 ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 2137451,10748016,19287093,19034380,18657858,17957572,17883705,17393022,17242280,16978418,16973504,16412504,16381901,16216224,16080782,15955804,15489336,15292209,15145946,15133509,15101689,12944246,12784250,12540962,12511555,12477932,11751908,11591728,11274188,11230166,11152753,11076863,9880546,9182531,9105688,8700162,8670083,8634322,8245032,7989379,7945253,2966397,2963820,1674727,1531651,1313367,12763866,9430700,19073225,19536175,19755660,19996092,20379614,15071553,21073872,20211863 493 NM_001684,AC114402,AL513343,CH471067,AK026443,AK292458,AK307104,AL601702,AL706212,BC062445,BC140774,BC150293,BF740130,BX537444,NM_001001396,BX537745,BX647701,CR614539,CR622884,CR749393,CR936708,DQ201780,DQ201781,M25874,M83363,U42026,U42061,U42062,U42378 NP_001001396,NP_001675,CAI17025,CAI17026,EAW91483,EAW91484,EAW91485,EAW91486,EAW91487,BAF85147,AAI40775,AAI50294,CAD97686,CAH18241,ABG24244,ABG24245,AAA50819,AAA36455,AAB17577,AAB17578,AAB17579,AAB17580,P23634,Q68DH9,CAL38204,CAL38232 Hs.343522 ATP2B2|DKFZp686G08106|DKFZp686M088|MXRA1|PMCA4|PMCA4b|PMCA4x OTTHUMP00000034089|matrix-remodeling-associated protein 1|matrix-remodelling associated 1|plasma membrane calcium ATPase|plasma membrane calcium pump|plasma membrane calcium-transporting ATPase 4|sarcolemmal calcium pump protein-coding 733912 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863,704409 16344560,20837466,12810057,10615129,12761501,14632183,14632182,11741891,12804581,19144698,19126050,18709316,18372165,18266684,18259764,18247307,18211433,18205868,17911984,17503064,16644186,16621454,16540292,16484827,16332677,16303743,16297192,16192278,15955096,15811949,15623514,15545997,15489334,15336968,15191544,14747290,14702039,12707275,12477932,11966689,11874499,11841554,11124703,10767338,10718198,7981684,20363212,19426624,19775426,20226632,20237496,15071553,20055875 704409 27032 BQ220831,DA405579,DC343471,DC345627,DC422788,NM_001199179,NM_001199180,NM_001199181,NM_001199182,NM_001199183,NM_001199184,NM_001199185,HB975274,HD032684,NM_001001487,NM_001001485,NM_014382,NG_007379,AC055733,CH471052,AB037768,AB209265,AF181120,AF181121,AF189723,AF225981,AJ010953,AK001684,AK074692,AK296470,AK299945,AK304175,AK304374,AK314342,NM_001001486,AL833453,AY268374,AY268375,BC028139,BU188061,CR596337,CR615088,CR620213 NP_001186108,NP_001186109,NP_001186110,NP_001186111,NP_001186112,NP_001186113,NP_001186114,CBG22382,CBV35543,NP_001001486,NP_001001487,NP_001001485,NP_055197,EAW79217,EAW79218,EAW79219,EAW79220,BAA92585,BAD92502,AAF26295,AAF26296,AAF27813,AAF35375,CAA09425,BAA91835,BAC11142,BAH12365,BAG61775,BAG65057,BAG65212,BAG36984,AAP30008,AAP30009,AAH28139,P98194,Q59G44,ABW03701 Hs.584884 ATP2C1A|BCPM|HHD|KIAA1347|PMR1|SPCA1|hSPCA1 ATP-dependent Ca(2+) pump PMR1|ATPase 2C1|ATPase, Ca(2+)-sequestering|HUSSY-28|OTTHUMP00000216066|OTTHUMP00000216068|OTTHUMP00000216069|OTTHUMP00000216071|OTTHUMP00000216072|OTTHUMP00000216073|OTTHUMP00000216074|OTTHUMP00000216075|atpase, ca++-sequestering|calcium-transporting ATPase type 2C member 1|secretory pathway Ca2+/Mn2+ ATPase 1 protein-coding 732511 ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 18676988,16332677,15831496,15677451,14702039,9734811,20887894,15071553,18839057,19646677,20379614 9914 NM_014861,AC010551,AC022165,CH471114,AB014603,AK025424,AK091051,AK092737,AK300526,AK316128,AY791884,BX648333,CR749829 NP_055676,EAW95483,EAW95484,EAW95485,BAA31678,BAG52269,BAG62238,BAH14499,AAV54193,CAI46049,CAH18686,O75185,Q5HYC3,AAI56685 Hs.6168 DKFZp686H22230|KIAA0703|SPCA2 ATPase 2C2|calcium-transporting ATPase type 2C member 2|secretory pathway Ca(2+)-ATPase 2|secretory pathway calcium ATPase 2 protein-coding 1353349 ATP3 ATPase, Mg++ transporting 494 734000 ATP4A ATPase, H+/K+ exchanging, alpha polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq] 1580863 2160952,18772363,15962365,15057824,14743830,10336993,9373149,9017763,8279517,8125298,3036582,2176086,1330887,19705497,15071553 495 NM_000704,AC002389,AD000090,J05451,M27575,M63962,AK058032,AK223259,AK308474,AL832971 NP_000695,AAB64182,AAB50172,AAA51010,AAA35577,AAA35988,BAD96979,CAH56338,P20648,Q53FM3,Q658V6,AAI67780 Hs.36992 ATP6A ATPase, H+/K+ transporting, alpha polypeptide|H(+)-K(+)-ATPase alpha subunit|gastric H(+)/K(+) ATPase subunit alpha|gastric H+/K+ ATPase alpha subunit|gastric H,K-ATPase alpha subunit|gastric H,K-ATPase catalytic subunit|gastric hydrogen-potassium ATPase|potassium-transporting ATPase alpha chain 1|proton pump protein-coding 737185 ATP4B ATPase, H+/K+ exchanging, beta polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq] 1300048,1580863 1656976,18787507,16341674,15489334,15155714,14743830,14685860,12651853,12477932,10722662,10336993,9315713,9017763,7900835,2160952,1335958,11865975,16344560,19694409,15071553 496 NM_000705,AB008783,AL442125,BX537316,CH471085,AK310129,BC029059,BC042846,BM782259,BM923761,M75110,BI764514,BX100065,DA964061 NP_000696,BAA23425,CAM28358,EAX09220,EAX09221,AAH29059,AAA35987,P51164,ABM81743,ABM84899 Hs.434202 ATP6B ATPase, H+/K+ transporting, beta polypeptide|atpase, h+/k+ transporting, beta polypeptide|gastric H(+)/K(+) ATPase subunit beta|gastric H+/K+ ATPase beta subunit|gastric hydrogen-potassium ATPase, beta|potassium-transporting ATPase beta chain|potassium-transporting ATPase subunit beta|proton pump beta chain protein-coding 734400 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the same protein have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq] 1300048,1580863 1602151,12110673,17643490,10077593,11410595,4517936,1830491,19405953,19110265,16714292,16378738,16344560,15952740,15862967,15489334,15324660,14749816,14702039,12614671,12477932,11741979,11381144,9834036,9461222,9284928,8428659,8168843,8086450,8065448,7498159,17148452,19016746,19064571,19261598,19343720,19717637,20381070,20819778,20877624 498 NM_004046,AC012569,CH471088,D28126,AK092735,AK098765,AK129739,AK129804,AK129900,AK289457,AK294804,AK302272,AK310051,AU120644,AU143001,AW205533,BC003119,BC007299,BC008028,BC011384,BC016046,BC019310,BC028335,BC035703,BC039135,BC042694,BC064562,BC067385,NM_001001937,CR613857,CR614555,CR617088,CR617331,CR617650,CR617880,CR622375,CR625409,CR625663,CR626480,CR626813,D14710,X59066,X65460,BT007209,CD244623,CR590562,CR590601,CR591138,CR591462,CR592611,CR593595,CR594006,CR594700,CR597477,CR597489,CR599938,CR601229,CR604007,CR604077,CR604755,CR607960,CR608051,CR609069,CR609904,CR609973,CR610155,CR611390 NP_001001937,NP_004037,EAX01471,BAA05672,BAG52604,BAF82146,BAG57924,BAG63618,AAH03119,AAH07299,AAH08028,AAH11384,AAH16046,AAH19310,AAH39135,AAH64562,BAA03531,CAA41789,CAA46452,P25705,AAP36942,ABM92174,ABM85136,AAH67385,AAP35873 Hs.298280 ATP5A|ATP5AL2|ATPM|MOM2|OMR|ORM|hATP1 ATP synthase alpha chain, mitochondrial|ATP synthase subunit alpha, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2|ATP sythase (F1-ATPase) alpha subunit|mitochondrial ATP synthetase, oligomycin-resistant|mitochondrial h+-atp synthase alpha subunit protein-coding 3340246 ATP5A1P10 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 100132619 CR788267,CR788261 pseudo 2816813 ATP5A1P6 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6 643860 AL162415,BX088651,NG_021106 pseudo 3277921 ATP5A1P7 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7 442415 BX664724 pseudo 3498034 ATP5A1P8 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8 392322 BX296545,NG_027840 pseudo 3516327 ATP5A1P9 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 9 100289279 NG_027892,AL590812,BX088645 pseudo 1346333 ATP5A2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle 1830491 499 1354259 ATP5AL1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle-like 1 8168843 500,442416 BX649597,NG_016580 ATP5AL1 pseudo 1350409 ATP5AP1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 1 9284928,9284928 503,642545 BX248112,NG_016587 ATP5AP1 pseudo 1352266 ATP5AP2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2 9284928 504 NG_008671,AC092662 ATP5AP2 pseudo 1343558 ATP5AP3 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 3 9284928 645443 NG_008672,AC009127 ATP5AP3 pseudo 1346824 ATP5AP4 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 4 493822 1344847 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq] 1580863 20663914,12110673,17643490,10077593,11410595,17510399,2870059,18063578,2900241,2687158,18284036,16996794,16927672,16890199,16751257,16236267,16230521,15952740,15635413,15489334,15324660,15242332,14749816,12511957,12477932,12206899,11790298,9834036,9461222,8065448,7798271,4517936,2896550,1602151,16169070,14499622,20012595,18029348,19567816,19878569,20028336,20067530,8006588 506 CR605483,CR607664,CR607778,CR608124,CR608193,CR609186,CR609212,CR609220,CR609559,CR611259,CR611415,CR611417,CR611938,CR612886,CR612947,CR613316,CR613578,CR613796,CR614182,CR614784,CR615169,CR615488,CR615631,CR615964,CR616381,CR617438,CR617726,CR619267,CR619766,CR619791,CR620227,CR621061,CR621144,CR621538,CR621900,CR622605,CR623584,CR623765,CR623794,CR624353,CR624581,CR624633,CR624825,CR624993,CR625069,CR625161,CR625698,CR626365,CR626584,CR626774,DQ403107,X05606,AC090681,CH471054,M19483,M27132,AK291085,BC016512,BI561028,CR590194,CR590902,CR591449,CR593868,CR594107,CR594490,CR595274,CR595373,CR595794,CR596818,CR596952,CR597508,CR597668,CR600201,CR600712,CR600999,CR601166,CR602257,CR602930,CR603074,CR603704,CR604659,CR605104,CR605146,CR605250,CR605460,NM_001686,HC091114 ABD77240,CAA29095,P06576,Q0QEN7,ABM82511,ABM85705,NP_001677,EAW96952,AAA51808,AAA51809,BAF83774,AAH16512,CBI68016 Hs.406510 ATPMB|ATPSB|MGC5231 ATP synthase subunit beta, mitochondrial|mitochondrial ATP synthase beta subunit|mitochondrial ATP synthetase, beta subunit protein-coding 1346159 ATP5BL1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1 7798271,2687158,7798271,9847074 507,507 AC018691,NG_021261 ATP5BL1|ATPMBL1|ATPSBL1 pseudo 1342586 ATP5BL2 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 508 732616 ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq] 631859,1300048,1580863 17207965,20877624,12110673,8227057,4517936,12887009,17686786,16169070,15489334,15164054,14749837,14749816,12477932,11744705,11533724,9834036,9657145,9461222,8168843,8065448,16385451,19064571,19834535 631859 509 NM_001001973,NM_005174,AL158044,AL353754,CH471072,D16561,AK292896,AK294061,AK296803,BC000470,BC000931,BC010380,BC013394,BC013865,BC016812,BC020824,BC026049,BQ893894,CR457403,CR595574,CR606908,CR611688,CR612179,CR616512,CR619950,CR621366,D16562,D16563 ADQ32623,NP_001001973,NP_005165,CAI12960,CAI12961,CAH73453,CAH73454,EAW86372,EAW86373,BAA03994,BAA03995,BAF85585,BAG57407,BAG59376,AAH00470,AAH00931,AAH13394,AAH16812,AAH20824,AAH26049,CAG33684,BAA03996,BAA03997,P36542,Q6I9V2,Q8TAS0 Hs.271135 ATP5C|ATP5CL1 ATP synthase gamma chain, mitochondrial|ATP synthase subunit gamma, mitochondrial|F-ATPase gamma subunit|mitochondrial ATP synthase, gamma subunit 1 protein-coding 1345569 ATP5C2 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 2 631859 8168843 631859 645560 NG_004656,AL138479 ATP5C2|ATP5CL2 pseudo 1353040 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq] 1580863 12539966,12110673,1531933,4517936,12887009,15489334,15057824,14749837,14749816,14702039,12477932,11533724,9834036,9657145,1286669 513 NM_001001975,AC004221,CH471139,AK094357,BC002389,BC004426,BC018079,BC018817,BC050458,BC058927,CR542218,NM_001687,CR593219,CR602770,CR603905,CR605033,CR614907,CR626390,S87916,S87918,X63422,X63423 NP_001678,NP_001001975,AAC04304,EAW69531,EAW69532,EAW69533,EAW69534,AAH02389,AAH04426,AAH18079,CAG47014,AAA08055,ABB76284,CAA45016,CAA45017,P30049 Hs.418668 ATP synthase subunit delta, mitochondrial|F-ATPase delta subunit|mitochondrial ATP synthase complex delta-subunit precusor|mitochondrial ATP synthase, delta subunit protein-coding 1346801 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. [provided by RefSeq] 1302227,1580863 12110673,4517936,19016746,15489334,14749816,12477932,11780052,11173840,10931946,10727396,9834036,9461222,2137333,20026007,16712791,20877624 1302227 514 NM_001001977,NM_006886,AL109840,CH471077,AF052955,AF077045,AK026556,AK315493,BC001690,BC003671,BC070167,BC105811,BT007293,CB106920 NP_001001977,NP_008817,CAC09372,EAW75444,EAW75445,EAW75446,AAF72736,AAD27778,BAG37877,AAH01690,AAH03671,AAI05812,AAP35957,P56381 Hs.177530 ATPE|MGC104243 ATP synthase subunit epsilon, mitochondrial|ATPase subunit epsilon|F(0)F(1)-ATPase|H(+)-transporting two-sector ATPase|OTTHUMP00000174442|mitochondrial ATP synthase epsilon chain|mitochondrial ATPase protein-coding 1344555 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 1302227 10727396 1302227 23744 AF277095,NG_002691,AC004066 pseudo 2291819 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 432369 NR_002162,AL591024,EC567419,EC579276 CAH70632,Q5VTU8 pseudo 736319 ATP5F1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq] 1300048,1580863 20038517,12110673,17353931,1831354,2868890,16710414,15489334,14749816,12477932,11827452,9834036,9461222,9373149,8125298,7706317,2883974,19016746,19064571,19650768,19834535,4517936,20877624 515 CR626393,CR626581,X60221,AL390195,CH471122,AI754631,AK223018,AK291077,AK308266,AK313541,AW385236,AW778751,AY871272,BC005366,BC005960,BC016350,BF237506,CR595441,CR597718,CR598017,CR600353,CR603818,CR606746,CR608175,CR609947,CR612409,CR614214,CR623373,CR624650,NM_001688 CAA42782,P24539,Q08ET0,Q53GB3,Q5QNZ2,NP_001679,CAC36042,CAI15628,EAW56495,EAW56496,BAD96738,BAF83766,BAG36318,AAX11428,AAH05366,AAH05960,AAH16350 Hs.514870 MGC24431|PIG47 ATP synthase B chain, mitochondrial|ATP synthase subunit b, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1|ATPase subunit b|H+-ATP synthase subunit b|atp synthase, h+ transporting, mitochondrial f0 complex, subunit b, isoform 1|cell proliferation-inducing protein 47 protein-coding 1348420 ATP5G1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580863 8328972,11230166,11076863,9834036,9461222,8889548,8485160,7698763,2883974,12477932,16381901,15906478,15489336,15489334,14749816,14702039,20877624,11256614,19889836,4517936 516 NM_005175,NM_001002027,AC091133,CH471109,X69907,AK095669,AK311848,AL080089,BC004963,BF573360,BG611396,BT007230,BU596803,CF129854,CR533449,D13118,M16453 NP_005166,NP_001002027,EAW94705,EAW94706,CAA49532,BAG34790,CAB45704,AAH04963,AAP35894,CAG38480,BAA02420,AAA51806,P05496,Q6FIH7,CAL38315 Hs.80986 ATP5A|ATP5G ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1|ATPase protein 9|ATPase subunit 9|ATPase subunit C|OTTHUMP00000218448|OTTHUMP00000218449|OTTHUMP00000218450|atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9), isoform 1|mitochondrial ATP synthase, subunit 9, isoform 1|mitochondrial ATP synthase, subunit C, isoform 1 protein-coding 736098 ATP5G2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq] 1300048,1580863 8328972,16303743,15489334,14749816,12477932,11329013,9834036,9461222,8485160,7706317,7698763,2883974,19064571,20189936,20877624 517 NM_001002031,NM_005176,AC073594,CH471054,X69908,AK075351,AK130971,AK311357,AV737582,BC013839,BC020826,BF337574,BG217012,BQ682406,BX348847,CR593432,CR608750,CR624102,D13119,H83751 NP_001002031,NP_005167,EAW96725,EAW96726,CAA49533,BAG52118,AAH20826,BAA02421,Q06055,ABM82293,ABM85473 Hs.524464 ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2|ATPase protein 9|ATPase subunit C|atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9), isoform 2|mitochondrial ATP synthase, subunit C (subunit 9), isoform 2 protein-coding 734314 ATP5G3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. 1300048,1580863 14667819,7698763,15815621,15489334,14749816,12477932,9834036,9461222,8328972,2883974,20877624 518 NM_001689,NM_001002258,AC096649,CH471058,AK125917,AK311999,AW025164,BC106881,BF210704,BI756002,BQ054164,CA424417,CR407601,CR589983,CR599628,CR623785,U09813,BI765737,NM_001190329 NP_001680,NP_001002258,AAX88970,EAX11105,EAX11106,EAX11107,BAG34937,AAI06882,CAG28411,AAA78807,P48201,Q6LEU9,ACE87781,ACT64448,EAX11108,NP_001177258 Hs.429 MGC125738|P3 ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P3|ATP synthase subunit 9|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)|ATP synthase, mitochondrial, C subunit-3|ATPase protein 9|ATPase subunit C|atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9) isoform 3 protein-coding 1354351 ATP5GP1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1 8328972 520 NG_005472,AC092810,X69909 ATP5GP1 pseudo 1344994 ATP5GP2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 2 319119 NG_002500,AL512361 ATP5G2P2|ATP5GP2 pseudo 1347596 ATP5GP3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 3 319136 NG_002514,AL928742 ATP5GP3 pseudo 1351129 ATP5GP4 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4 319137 NG_002515,AL139353 ATP5GP4 pseudo 1351705 ATP5H ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the F0 complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq] 1580863 12110673,19110265,15489334,14749816,14702039,12745923,12628343,12477932,12471886,11042152,9834036,9461222,7509337,16169070,19016746,4517936,20877624 10476 NM_001003785,NM_006356,AC087651,CH471099,AA608885,AF061735,AF070650,AF086159,AF087135,AK095671,AK312230,BC029392,BC032245,BC038092 NP_001003785,NP_006347,EAW89228,EAW89229,AAG43146,AAD20956,AAC36338,BAG35163,AAH29392,AAH32245,AAH38092,O75947 Hs.514465 ATP5JD|ATPQ ATP synthase D chain, mitochondrial|ATP synthase subunit d, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d|ATP synthase, H+ transporting, mitochondrial F1F0, subunit d|ATPase subunit d|My032 protein protein-coding 2303321 ATP5HP1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d, pseudogene 1 390581 NG_004675,AC009852 HsT18164 pseudo 1350783 ATP5I ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the F0 complex. [provided by RefSeq] 1580863 18029348,20877624,12110673,18060860,16682002,15489334,14749816,12745923,12628343,12477932,12471886,11939412,10409428,9834036,9461222,8702853,16344560,4517936 521 NM_007100,AC107464,CH471131,AB028624,AK000656,BC003679,BC017215,BC105610,BF215596,BG943252,BT006922,D50371,BG940181,DA119852,NR_033743 NP_009031,EAW82660,BAA78778,AAH03679,AAI05611,AAP35568,BAA23322,P56385,Q9Y6W4,AAP36676 Hs.85539 ATP5K|MGC12532 ATP synthase e chain, mitochondrial|ATP synthase subunit e, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E|ATPase subunit e|F1F0-ATP synthase, murine e subunit protein-coding 735304 ATP5J ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the F0 complex, required for F1 and F0 interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1300048,1580863 18029348,19759913,20877624,12110673,1830479,1825642,18243211,17456993,16532470,16230521,15785006,15709156,15489334,14749816,14633154,12745923,12628343,12477932,12471886,11230166,10830953,9834036,9732751,9461222,7698763,1286669,19106112,4517936,19064571 522 NM_001003701,NM_001685,NM_001003696,NM_001003697,AP000226,CH471079,AI085837,AK311899,NM_001003703,AL110183,AY544129,BC001178,BC066310,BG938438,BI093033,BQ268216,BT007244,BU174560,CR456950,M37104,M73031 NP_001003703,NP_001003701,NP_001676,NP_001003696,NP_001003697,EAX09970,EAX09971,EAX09972,EAX09973,EAX09974,EAX09975,BAG34840,CAB53667,AAT11160,AAH01178,AAH66310,AAP35908,CAG33231,AAA51807,AAA58630,P18859,Q6IB54,Q6NZ59 Hs.246310 ATP5|ATP5A|ATPM|CF6|F6 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6|ATP synthase-coupling factor 6, mitochondrial|ATPase subunit F6|OTTHUMP00000096112|coupling factor 6|mitochondrial ATP synthase, coupling factor 6|mitochondrial ATP synthase, subunit F6|mitochondrial ATPase coupling factor 6|proliferation-inducing protein 36 protein-coding 1345847 ATP5J2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the F0 complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. [provided by RefSeq] 1298632,1580863 12110673,11959398,16169070,15489334,14749816,14702039,12745923,12690205,12628343,12477932,12471886,11042152,9834036,9653160,9461222,9373149,8125298,20877624,18505769,18596870,15146197,16344560,19064571,4517936,16712791 1298632 9551 NM_001003714,AY046911,BC003678,BE139254,BU587946,CB155273,CR456891,CR542155,NM_004889,NM_001039178,NM_001003713,AC073063,CH236956,CH471091,CS072281,AF047436,AF088918,AK094388,AK123419,AK223348,CB110074,CD173604,CD176299,EL952520,CN274665,DA064847,DB114195,NM_001190353,NM_001190354 AAL06647,AAH03678,CAG33172,CAG46952,P56134,Q53FE1,Q6IBB3,NP_001003714,NP_004880,NP_001034267,NP_001003713,EAL23877,EAW76661,CAI93419,AAC39887,AAC34895,BAD97068,NP_001177282,NP_001177283 Hs.521056,Hs.656515 ATP5JL ATP synthase f chain, mitochondrial|ATP synthase subunit f, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2|F1F0-type ATPase subunit f|F1Fo-ATP synthase complex Fo membrane domain f subunit|F1Fo-ATPase synthase f subunit|OTTHUMP00000206270|OTTHUMP00000206317|atp synthase, h+ transporting, mitochondrial f0 complex, subunit f, isoform 2 protein-coding 1354458 ATP5J2LP ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2-like pseudogene 10830953 54100 NG_000931,AP000694,AP001725 pseudo 1346132 ATP5J2P2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 2 387107 NG_004672,AL445189 bA249L21.4 pseudo 1343122 ATP5J2P3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2 pseudogene 3 445573 1642107 ATP5J2P4 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 4 654485 AC009994,AC138744,XM_003118482,NG_005476 XP_003118530 pseudo 1642108 ATP5J2P5 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 5 654484 NG_005477,AC006057 pseudo 1642106 ATP5J2P6 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 6 654486 NG_005475,AC011276 pseudo 2902896 ATP5JP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1 12815422,9847074 359997 AC011297,NG_002918 pseudo 1352647 ATP5L ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the F0 complex. [provided by RefSeq] 1580863 12110673,17353931,16381901,15489336,15489334,14749816,12745923,12628343,12477932,12471886,11230166,11076863,11042152,9834036,9461222,11256614,17137291,4517936,20819778,20877624 10632 NM_006476,AP001267,CH471065,AA258888,AF070655,AF087846,AF092124,AI337729,AK289568,AL050277,BC015128,BC070165,CR533494,CR542211,BU953217,NR_033759 NP_006467,EAW67376,AAD20961,AAP97159,AAC61597,BAF82257,CAB43378,AAH15128,AAH70165,CAG38525,CAG47007,O75964,CAL37942,CAL38390 Hs.486360 ATP5JG ATP synthase g chain, mitochondrial|ATP synthase subunit g, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G|ATP synthase, H+ transporting, mitochondrial F1F0, subunit g|ATPase subunit G|F1F0-type ATP synthase subunit g|F1Fo-ATP synthase complex Fo membrane domain g subunit protein-coding 1344612 ATP5L2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene 1580863 15489334,12477932,10361692 267020 Z93241,AF092923,BC093719,BC093721,NM_001165877 AAP97217,Q7Z4Y8,NP_001159349 Hs.664737 ATP5K2|dJ222E13.5 ATP synthase subunit g 2, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2-like|ATP synthase, H+ transporting, mitochondrial F1F0, subunit g|ATPase subunit g 2|atp synthase, h+ transporting, mitochondrial f0 complex, subunit g, isoform 2 protein-coding 1350659 ATP5LP1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 1 53411 NG_004834,AF261721,AP006289 ATP5KP1|ATPE5KP1 pseudo 1353372 ATP5LP2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 2 53410 NG_005040,AF261722,AL732431 ATP5KP2 pseudo 1344028 ATP5LP3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 3 53409 NG_005043,AC114777,AF261723 ATP5KP3|ATPE5KP3 pseudo 3051036 ATP5LP4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4 100130396 AC108935,NG_022979 pseudo 3254930 ATP5LP5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5 100287091 AC013251,NG_022986 pseudo 3051009 ATP5LP6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6 100462865 AC015801,NG_022453 pseudo 3028767 ATP5LP7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7 100287964 AC067852,NG_023016 pseudo 3051010 ATP5LP8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8 100462862 AC023206,NG_021779 pseudo 1348097 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq] 1580863 10830953,9373149,8125298,12110673,15850986,7490082,17851741,15489334,14702039,12665801,12477932,19064571,19274082,19615732,4517936,17567994,20800603,20877624 539 NM_001697,AP000313,CH471079,AF088071,AK093795,AK124187,AK222608,AK222962,AK311796,AV734214,AW518473,BC021233,BC022865,BT019836,CD174837,CR456822,X83218 NP_001688,EAX09802,EAX09803,EAX09804,BAD96328,BAD96682,BAG34739,AAH21233,AAH22865,AAV38639,CAG33103,CAA58219,P48047,Q53HH2 Hs.409140 ATPO|OSCP ATP synthase subunit O, mitochondrial|human ATP synthase OSCP subunit|oligomycin sensitivity conferral protein|oligomycin sensitivity conferring protein protein-coding 1343474 ATP5S ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 6143319,16806233,14749816,12745923,12628343,12477932,12471886,11744738,9834036,9461222,9110174,8619474,16344560,20877624 27109 NM_001003805,NM_015684,AL359397,CH471078,AF052186,AF390029,AK290008,AY052377,BC011549,BC087851,BG699167,BI755956,NM_001003803,CD517203,U79253,BU189283,DA033027,NR_033761 NP_001003803,NP_001003805,NP_056499,EAW65718,EAW65719,EAW65720,EAW65721,EAW65722,EAW65723,AAL58839,BAF82697,AAL13058,AAH11549,AAB50202,Q8WXQ4,Q99766 Hs.438489 ATPW|HSU79253 ATP synthase coupling factor B, mitochondrial|ATP synthase coupling factor B-like 1|ATP synthase subunit s, mitochondrial|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)|ATP synthase-coupling factor B|mitochondrial ATP synthase regulatory component factor B protein-coding 1605674 ATP5SL ATP5S-like 14702039,12477932,16344560,20877624,20881960 55101 CH471126,AK001103,AK123631,AK293132,AK294249,AK297698,AK298197,AK301940,AK316313,BC013323,CR591772,CR592886,CR595537,CR596470,CR600035,CR602095,CR603068,CR603164,CR603891,CR607677,CR611706,CR611924,CR617693,CR619852,CR619861,CR620613,CR622373,CR624228,CR626837,BQ072604,DA075924,DA703197,NM_001167867,NM_001167868,NM_001167869,NM_001167870,NM_001167871,NR_030765,NM_018035,AC011526 EAW57042,EAW57043,EAW57044,EAW57045,BAA91503,BAG56681,BAG57545,BAG60056,BAG60467,BAG63360,BAH14684,AAH13323,Q9NW81,NP_001161339,NP_001161340,NP_001161341,NP_001161342,NP_001161343,NP_060505 FLJ10241 ATP synthase subunit s-like protein protein-coding 733467 ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. [provided by RefSeq] 1300048,1580863 8733135,16381901,16344560,16303743,15489336,15489334,14702039,12477932,11983866,11923311,11076863,10440860,10340843,10336633,10224039,10221984,9442887,9210392,8281148,8034313,16169070,19246570,19913121,20628086 537 BX936347,BX936385,CH471172,AK026519,AK075284,AK090462,AK091083,AK130616,AK289452,AK301603,AL136851,BC000724,BC109247,BX461330,CR592659,CR608354,CR613808,CR615694,CR625568,D16469,DA921677,NM_001183 NP_001174,CAI43213,CAI95782,CAQ06667,EAW72712,EAW72713,EAW72714,EAW72715,BAC11520,BAC03443,BAG52282,BAF82141,BAG63090,CAB66785,AAH00724,BAA03938,Q15904,Q8NBT4,Q8NF19,Q9H0C7,CAL37445,CAL38190,CAL38747,ABM83065,ABM86259 Hs.6551 16A|ATP6IP1|ATP6S1|Ac45|CF2|MGC129781|VATPS1|XAP-3|XAP3 ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1|ATPase, H+ transporting, lysosomal interacting protein 1|H-ATPase subunit|OTTHUMP00000196463|V-ATPase Ac45 subunit|V-ATPase S1 accessory protein|V-ATPase subunit S1|V-type proton ATPase subunit S1|atpase, h+ transporting, lysosomal (vacuolar proton pump), subunit 1|protein XAP-3|vacuolar proton pump subunit S1 protein-coding 1603596 ATP6AP1L ATPase, H+ transporting, lysosomal accessory protein 1-like 14702039,12477932 92270 NM_001017971,AC010598,CH471084,AK022625,AK094973,BC093982,BC112191 NP_001017971,EAW95889,EAW95890,AAH93982,AAI12192,Q52LC2 Hs.364045 MGC138396 V-type proton ATPase subunit S1-like protein|vacuolar proton pump subunit S1-like protein protein-coding 1346001 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq] 1580863 19580809,12045255,15746149,16374430,19513539,19131936,18698213,17494887,17082479,16807542,16401765,16303743,15489334,12477932,11782983,11590366,10931946,9556572,20385187,19615732,19641301,19733264,20093472 10159 NG_008874,AC092473,AF354120,CH471141,AF109363,AF248966,AF291814,AK075382,AK293510,AK296614,AK297007,AK297760,AK314633,AK315948,NM_005765,AL049929,AY038990,AY429341,BC010395,BC084541,Y17975 NP_005756,AAL11062,EAW59424,AAQ13511,AAG44564,AAM47531,BAC11582,BAH11525,BAH12399,BAH12473,BAH12660,BAH14319,CAB43210,AAK83467,AAR06910,AAH10395,AAH84541,CAA76984,Q96PH0,O75787 Hs.495960 APT6M8-9|ATP6IP2|ATP6M8-9|ELDF10|HT028|M8-9|MGC99577|MRXE|MSTP009|XMRE ATPase H(+)-transporting lysosomal-interacting protein 2|ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9|ATPase, H+ transporting, lysosomal interacting protein 2|ER-localized type I transmembrane adaptor|N14F|OTTHUMP00000025770|OTTHUMP00000025773|OTTHUMP00000025774|V-ATPase M8.9 subunit|embryonic liver differentiation factor 10|renin receptor|renin/prorenin receptor|vacuolar ATP synthase membrane sector-associated protein M8-9|vacuolar proton ATP synthase membrane sector associated protein M8-9 protein-coding 1605737 ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 12649290,18505059,17081065,15489334,14597263,18029348,14580332,12788495,12643545,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9373149,9210392,8125298,7774924,1704894,17662945,2874839,17360703,20038947 535 NM_005177,NM_001130020,NM_001130021,AC067852,AC107993,CH471152,AK223554,AL096733,AL137683,BC017826,BC032398,BX648978,CR624032,CR627443,L78933,U18920,Z71460,AK294512,AK294789,AK295682,AK299784,AK316305 NP_005168,NP_001123492,NP_001123493,EAW60830,EAW60831,BAD97274,CAB70874,AAH32398,CAI56709,CAH10528,AAL77442,AAA69700,CAA96077,Q53ET5,Q53X12,Q5CZH6,Q6AHY6,Q93050,BAH11795,BAH11885,BAH12153,BAH13127,BAH14676 Hs.463074 ATP6N1|ATP6N1A|DKFZp781J1951|Stv1|VPP1|Vph1|a1 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)|ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)|H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1|V-ATPase 116 kDa|V-type proton ATPase 116 kDa subunit a|V-type proton ATPase 116 kDa subunit a isoform 1|clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit|vacuolar adenosine triphosphatase subunit Ac116|vacuolar proton pump subunit 1|vacuolar proton pump, subunit 1|vacuolar proton translocating ATPase 116 kDa subunit A|vacuolar-type H(+)-ATPase 115 kDa subunit protein-coding 1320849 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq] 1580863 19171192,19401719,16415858,2247090,19321599,18157129,17295899,17081983,16344560,16113235,15373763,15358640,15301855,14702039,14597263,14580332,12788495,12477932,11836511,20669186,20153292,17662945,2874839 23545 AK298778,BC000826,BC022300,BC068531,BG106215,BG167832,BG759946,BI562012,BQ050095,BX328381,CB960860,CD654920,DA737084,R51339,NM_012463,NG_012743,AC117503,CH471054,AF112972,AK056800,AK289391 BAG60919,AAH22300,AAH68531,Q8TBM3,Q9Y487,NP_036595,EAW98434,AAD04632,BAF82080,ADR82758 Hs.25786 A2|ARCL|ATP6A2|ATP6N1D|J6B7|RTF|STV1|TJ6|TJ6M|TJ6S|VPH1|WSS A2V-ATPase|V-type proton ATPase 116 kDa subunit a isoform 2|lysosomal H(+)-transporting ATPase V0 subunit a2|regeneration and tolerance factor|v-ATPase 116 kDa|v-type proton ATPase 116 kDa subunit a|vacuolar proton translocating ATPase 116 kDa subunit a protein-coding 1312856 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq] 1599383,1580863 17360703,18632794,12414817,10973252,12649290,15800125,14638902,19366680,16344560,14702039,14580332,12788495,12690205,12477932,11836511,10600682,10577919,10440860,10340843,10224039,10221984,9442887,9210392,14597263,20221774,14675051,19639346,20379614,17662945,2874839 1599383 50617 NM_130840,NM_020632,NM_130841,NG_008145,AC018663,AC020983,AF249874,CH236950,CH471070,AF245517,AK055789,AK292945,BC109304,BC109305,DA857655,DB230144,HI574138,HI574140,HI574142 NP_570855,NP_065683,NP_570856,EAL24043,EAW83892,EAW83893,EAW83894,EAW83895,EAW83896,EAW83897,AAG11415,BAB71014,BAF85634,AAI09305,AAI09306,Q32M47,Q96N91,Q9HBG4,CBX47558,CBX47559,CBX47560 Hs.98967 A4|ATP6N1B|ATP6N2|MGC130016|MGC130017|RDRTA2|RTA1C|RTADR|STV1|VPH1|VPP2 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B|ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)|H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B|V-ATPase 116 kDa|V-type proton ATPase 116 kDa subunit a|V-type proton ATPase 116 kDa subunit a isoform 4|vacuolar proton pump 116 kDa accessory subunit|vacuolar proton pump, subunit 2|vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform protein-coding 1317997 ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the transmembrane V0 domain and is the human counterpart of yeast VMA16. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq] 1580863 9653649,17576770,15489334,15249206,14597263,14580332,12890556,12788495,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9210392,17662945,2874839 533 BC042664,BC053601,BG475609,BG831921,BI770034,BT007151,CR456972,CR591603,CR596289,CR599148,CR601146,CR613387,CR615700,CR621763,D89052,L05089,NM_004047,NM_001039457,AB045777,AL357079,CH471059,AI439545,BC000423,BC005876 AAH05876,AAP35815,CAG33253,BAA13753,AAC15853,Q16467,Q6IB32,Q8NHD8,Q99437,NP_004038,NP_001034546,BAC02927,CAI16801,EAX07066,EAX07067,EAX07068,EAX07069,AAH00423 Hs.596514 ATP6F|HATPL|VMA16 H(+)-transporting two-sector ATPase, subunit F|V-ATPase 21 kDa proteolipid subunit|V-ATPase subunit c''|V-type proton ATPase 21 kDa proteolipid subunit|vacuolar ATP synthase 21 kDa proteolipid subunit|vacuolar proton pump 21 kDa proteolipid subunit|vacuolar proton pump, 21 kDa subunit protein-coding 731892 ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the V0 domain. This gene had the previous symbols of ATP6C and ATP6L. [provided by RefSeq] 1300048,1580863 1709739,11543633,19058789,15489334,15466867,14597263,14580332,12788495,12477932,12438748,11836511,10440860,10340843,10224039,10221984,9442887,9210392,8741845,8250920,7636472,1532310,16169070,17662945,2874839,16415858,19299075,19875448 527 AW161158,NM_001198569,CR590083,CR592150,CR592409,CR597229,CR599309,CR599331,CR600796,CR601237,CR603009,CR608280,CR613683,CR616464,CR616665,CR622720,M62762,AB046575,AC093525,CH471112,BC004537,BC007389,BC007759,BC009290,BI548787,BT007155,CR541930,CR541951,NM_001694 NP_001185498,AAA60039,P27449,Q8NHD7,NP_001685,BAC06442,EAW85501,AAH04537,AAH07389,AAH07759,AAH09290,AAP35819,CAG46728,CAG46749 Hs.389107 ATP6C|ATP6L|ATPL|VATL|VPPC|Vma3 H(+)-transporting two-sector ATPase, 16 kDa subunit|V-ATPase 16 kDa proteolipid subunit|V-ATPase subunit c|V-type proton ATPase 16 kDa proteolipid subunit|vacuolar ATP synthase 16 kDa proteolipid subunit|vacuolar H+ ATPase proton channel subunit|vacuolar proton pump 16 kDa proteolipid subunit|vacuolar proton pump, 16 kDa subunit protein-coding 1314615 ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq] 1300048 19285986,19165527,16713569,15489334,14702039,14597263,14580332,12788495,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9210392,8889548,8250920,2903164,18752060,11118322,19913121,20628086,17662945,2874839 9114 AK125522,NM_004691,NG_011482,AC009061,CH471092,AK128641,AK300570,AK301630,AK313035,BC008861,BI552108,BM677562,CR591810,CR594427,CR595600,CR597772,CR599242,CR599418,CR601254,CR602420,CR602697,CR606968,CR607021,CR609191,CR609995,CR613366,CR614575,CR615039,CR617838,CR618424,CR619069,CR619627,CR620569,CR622440,CR624642,L05087,X71490 NP_004682,EAW83135,EAW83136,BAH13305,BAH13524,BAG35868,AAH08861,AAC15852,CAA50591,P61421,ABM84196,ABM87600 Hs.106876 ATP6D|ATP6DV|FLJ43534|P39|VATX|VMA6|VPATPD 32 kDa accessory protein|ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D|H(+)-transporting two-sector ATPase, subunit D|V-ATPase 40 KDa accessory protein|V-ATPase AC39 subunit|V-ATPase subunit d 1|V-ATPase, subunit D|V-type proton ATPase subunit d 1|atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 1|vacuolar proton pump subunit d 1 protein-coding 1315777 ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 1300048,1580863 18752060,14702039,14597263,14580332,12788495,12477932,12384298,11836511,17662945,2874839,15800125,19818731 245972 NM_152565,AC023194,AC084128,CH471060,AK096027,AY079172,BC065207 NP_689778,EAW91631,EAW91632,BAC04679,AAL87000,AAH65207,Q8N8Y2 Hs.436360 ATP6D2|FLJ38708|VMA6 V-ATPase subunit d 2|V-type proton ATPase subunit d 2|atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2|vacuolar proton pump subunit d 2 protein-coding 1350958 ATP6V0E1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq] 1580863 14580332,12788495,12477932,12163484,11836511,10440860,10340843,10224039,10221984,9442887,9210392,14597263,9556572,17350184,17576770,15906478,15489334,14970230,17662945,2874839 8992 NM_003945,AC008429,CH471062,AI198465,AK312068,BC119714,BC119715,BF691381,CR456856,CR542131,CR594596,CR599928,CR613914,CR617216,CR623335,CR624621,Y15286 NP_003936,EAW61417,EAW61418,BAG35004,AAI19715,AAI19716,CAG33137,CAG46928,CAA75571,O15342 Hs.484188 ATP6H|ATP6V0E|M9.2|Vma21|Vma21p H(+)-transporting two-sector ATPase, subunit H|V-ATPase 9.2 kDa membrane accessory protein|V-ATPase H subunit|V-ATPase M9.2 subunit|V-ATPase subunit e 1|V-type proton ATPase subunit e 1|vacuolar ATP synthase subunit H|vacuolar proton pump H subunit|vacuolar proton pump subunit e 1|vacuolar proton-ATPase subunit M9.2 protein-coding 1606137 ATP6V0E2 ATPase, H+ transporting V0 subunit e2 Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM] 17350184,16303743,14702039,12477932,9847074,17662945,2874839 155066 NM_001100592,AC093458,CH471146,AA912295,AF452639,AK057700,AK094602,AK098362,AK172725,AK290086,AY037164,BC015899,BX640846,CR591680,CR592252,CR596044,CR597079,CR597181,CR597900,CR597990,CR598486,CR598722,NM_145230,CR601578,CR602705,CR603296,CR603936,CR603978,CR603983,CR604229,CR604828,CR606342,CR607433,CR607551,CR608015,CR613139,CR614296,CR614326,CR615323,CR618284,CR623395,CR623940,CR625824,DB544557,DQ989009,DQ995344 NP_660265,NP_001094062,AAQ96859,EAW80020,EAW80021,EAW80022,EAW80023,AAP97693,BAC05292,BAF82775,AAK67647,CAE45916,ABK88279,ABK76305,Q7Z4R7,Q8NHE4 Hs.556998,Hs.698060 ATP6V0E2L|C7orf32 ATPase, H+ transporting V0 subunit E isoform 2-like|ATPase, H+ transporting V0 subunit E2-like|H+-ATPase e2 subunit|OTTHUMP00000212609|OTTHUMP00000212611|V-ATPase subunit e 2|V-type proton ATPase subunit e 2|lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2|vacuolar proton pump subunit e 2|vacuolar proton-ATPase subunit protein-coding 1323585 ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq] 1580863 10440860,10340843,10224039,10221984,9442887,9210392,7575517,8463241,19405953,19110265,17576770,15952740,15489334,14597263,14580332,12788495,12477932,11991713,11836511,11741979,10931946,20717956,17662945,2874839 523 CA435314,DC350361,AK295150,AK314779,AL514316,BC012169,BC013138,BT006672,L09235,NM_001690,AC079944,AC108693,CH471052,AF113129,AF339827,AK293804 BAH11992,BAG37315,AAH13138,AAP35318,AAA83249,B46091,P38606,BAH11601,NP_001681,EAW79625,EAW79626,EAW79627,EAW79628,AAF14870 Hs.477155 ATP6A1|ATP6V1A1|HO68|VA68|VPP2|Vma1 ATPase, H+ transporting, lysosomal, subunit A1|H(+)-transporting two-sector ATPase, subunit A|H+-transporting ATPase chain A, vacuolar (VA68 type)|V-ATPase 69 kDa subunit 1|V-ATPase A subunit 1|V-ATPase subunit A|V-type proton ATPase catalytic subunit A|vacuolar ATP synthase catalytic subunit A, ubiquitous isoform|vacuolar ATPase isoform VA68|vacuolar proton pump alpha subunit 1|vacuolar proton pump subunit alpha protein-coding 1321627 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq] 1580863,1599372 19478356,12414817,16433694,9916796,19008710,18180394,17216496,16344560,14702039,14597263,14580332,12788495,12579397,12500243,12477932,11836511,10915794,10748165,10440860,10340843,10224039,10221984,9442887,9373149,9210392,8889548,8849440,8597961,8125298,7945239,2527371,12651853,17662945,2874839,16928804,19639346,20233014,19913121,20622307,20628086 1599372 525 AF107468,AF107469,AF107470,AF107471,AF107472,AF107473,AF107474,AF107475,AF107476,AF107477,AF107478,CH471053,AK127853,AK223151,AK291121,AK301542,AK313194,AU126647,BC035978,BC063411,CA944873,CR591416,CR598781,CR609142,CR614364,CR617095,CR618579,CR626470,DA845716,M25809,AF107467,NM_001692,NG_008016,AC007040,AF107466 EAW99790,EAW99791,BAD96871,BAF83810,BAG63039,BAG36011,AAH63411,AAA36498,P15313,Q71UA2,NP_001683,AAD11943 Hs.64173 ATP6B1|MGC32642|RTA1B|VATB|VMA2|VPP3 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness)|H(+)-transporting two-sector ATPase, 58kD subunit|H+-ATPase beta 1 subunit|OTTHUMP00000204311|V-ATPase B1 subunit|V-ATPase subunit B 1|V-type proton ATPase subunit B, kidney isoform|atpase, h+ transporting, lysosomal 56/58kda, v1 subunit b, isoform 1 (renal tubular acidosis with deafness)|endomembrane proton pump 58 kDa subunit|vacuolar proton pump 3|vacuolar proton pump subunit B 1|vacuolar proton pump, subunit 3 protein-coding 732120 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. 1300048,1580863 11836511,10440860,10340843,10224039,10221984,9442887,9210392,7945239,7706273,1373501,2145275,17081065,15489334,14702039,14597263,14580332,12788495,12670943,12643545,12477932,18029348,20038947,20379614,20381070,20889312,17662945,2874839 526 HI574180,AC025853,CH471080,Z37165,AB208806,AK127443,AK312372,BC003100,BC007309,BC030640,CR605997,CR617043,L35249,M60346,X62949,NM_001693,AK294163,AK298819 CBX47579,NP_001684,EAW63758,EAW63759,CAA85522,BAD92043,BAG35290,AAH03100,AAH07309,AAH30640,AAA58661,AAA35610,CAA44721,P21281,Q59HF3,ABM82763,ABM85949,BAG57486,BAG60951 Hs.295917 ATP6B1B2|ATP6B2|HO57|VATB|VPP3|Vma2 H+ transporting two-sector ATPase|V-ATPase B2 subunit|V-ATPase subunit B 2|V-type proton ATPase subunit B, brain isoform|atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2|endomembrane proton pump 58 kDa subunit|vacuolar H+-ATPase 56,000 subunit|vacuolar proton pump subunit B 2 protein-coding 1322350 ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq] 1300048,1580863 16415858,8250920,16344560,15489334,14702039,14597263,14580332,12890556,12788495,12477932,11836511,11752456,10440860,10340843,10224039,10221984,9442887,9210392,2147024,17662945,2874839,20379614,17207965,20819778 528 AK308632,AL707882,NM_001695,AF363578,AP003550,CH471060,AA242944,AK000064,AK090702,AK298617,AU137773,AV649881,AW505309,BC010960,BI821321,BX648079,CR609104,CR625778,J05682,X69151 NP_001686,AAL50383,EAW91859,EAW91860,BAH12829,AAH10960,AAA36803,CAA48903,P21283,ACE87603,ACE86916,ADQ31698 Hs.86905 ATP6C|ATP6D|FLJ20057|VATC|Vma5 H(+)-transporting two-sector ATPase, subunit C|H+ -ATPase C subunit|H+-transporting ATPase chain C, vacuolar|V-ATPase C subunit|V-ATPase subunit C 1|V-type proton ATPase subunit C 1|subunit C of vacuolar proton-ATPase V1 domain|vacuolar ATP synthase subunit C|vacuolar proton pump C subunit|vacuolar proton pump subunit C 1|vacuolar proton pump, 42-kD subunit|vacuolar proton-ATPase, subunit C, VI domain protein-coding 1354342 ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq] 1580863 16344560,16042619,15203218,14597263,14580332,12788495,12477932,12384298,11836511,17662945,2874839,20379614 245973 NM_001039362,NM_144583,AC092687,CH471053,AK127836,AK292952,AY039759,BC012142,BX358022,CD636943,DB230703 NP_001034451,NP_653184,AAY24069,EAX00951,EAX00952,BAF85641,AAK83464,AAH12142,Q8NEY4,ABM83181,ABW03480 Hs.580464 ATP6C2|VMA5 V-ATPase C2 subunit|V-ATPase subunit C 2|V-type proton ATPase subunit C 2|atpase, h+ transporting, lysosomal 42kda, v1 subunit c isoform 2|vacuolar proton pump subunit C 2 protein-coding 1348353 ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq] 1580863 19913121,20628086,18752060,15489334,14702039,14597263,14580332,12788495,12477932,11913976,11836511,11435709,10931946,10440860,10340843,10224039,10221984,9210392,9442887,17207965,16344560,8889548,17662945,2874839 51382 NM_015994,AL139785,CH471061,AF077614,AF100741,AF104629,AF145316,AK001155,AK315784,BC001411,BC025373,BC031002,BF669634,BG236185,CR590079,CR591270,CR598234,CR600453,CR603153,CR612882,CR613083,CR614271,CR619229,CR619369,CR621010,CR626788,BU726615,DB039102 NP_057078,EAW80931,EAW80932,AAG43047,AAD40384,AAG30726,AAD33953,BAA91523,BAG38130,AAH01411,AAH25373,AAH31002,Q6PJ05,Q8N5Z9,Q9H3H0,Q9NW63,Q9Y5K8,ADQ32056 Hs.272630 ATP6M|VATD|VMA8 ATPase, H+ transporting lysosomal, member M|ATPase, H+ transporting, lysosomal (vacuolar proton pump)|H(+)-transporting two-sector ATPase, subunit M|V-ATPase 28 kDa accessory protein|V-ATPase D subunit|V-ATPase subunit D|V-type proton ATPase subunit D|vacuolar ATP synthase subunit D|vacuolar H-ATPase subunit D|vacuolar proton pump D subunit|vacuolar proton pump delta polypeptide|vacuolar proton pump subunit D|vacuolar proton-ATPase subunit D protein-coding 1347206 ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq] 1580863 14667819,8250920,16196101,16169070,16155006,15489334,14597263,14580332,12788495,12477932,12163484,12036578,11836511,11560919,11399750,11381032,10915794,10748165,10440860,10340843,10224039,10221984,9442887,9405660,9210392,8004105,1533641,17662945,2874839 529 NM_001039366,NM_001039367,NM_001696,NG_009214,AC004019,AC006285,AC007666,CH471193,AI565049,AK294623,AK312394,AW406069,BC004443,BE735148,BI546032,BI597419,BQ888820,BT007128,CK005516,CR456385,CR590656,CR593071,CR596207,CR599840,CR601392,CR601656,CR602178,CR603834,CR604724,CR606139,CR617041,CR624585,CR626384,X71491,X76228,AK315941 NP_001034455,NP_001034456,NP_001687,EAW57762,EAW57763,EAW57764,EAW57765,BAG57804,BAG35311,AAH04443,AAP35792,CAG30271,CAA50592,CAA53814,P36543,Q53Y06,CAK54374,CAK54673,ACE87165,ACE86484,BAH14312 Hs.517338 ATP6E|ATP6E2|ATP6V1E|P31|Vma4 H(+)-transporting two-sector ATPase, 31kDa subunit|H+-transporting ATP synthase chain E, vacuolar|OTTHUMP00000196213|V-ATPase 31 kDa subunit|V-ATPase subunit E 1|V-ATPase, subunit E|V-type proton ATPase subunit E 1|vacuolar proton pump subunit E 1 protein-coding 1323263 ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 1580863 15815621,15489334,14702039,14597263,14580332,12788495,12477932,12036578,11836511,10748165,17207965,17662945,2874839 90423 NM_080653,AC018682,CH471053,AB074759,AK058055,BC008981,BC034808,BG717423,CR601460 NP_542384,AAY14833,EAX00253,BAC00847,BAB71643,AAH08981,AAH34808,Q96A05,ADQ31586 Hs.437691,Hs.659656 ATP6E1|ATP6EL2|ATP6V1EL2|MGC9341|VMA4 V-ATPase subunit E 2|V-type proton ATPase subunit E 2|atpase, h+ transporting, lysosomal 31kda, v1 subunit e isoform 2|vacuolar proton pump subunit E 2|vacuolar-type proton-translocating ATPase subunit E1 protein-coding 1348896 ATP6V1EL1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1 (pseudogene) 729435 NG_024027,NG_009357,AC135279 ATP6EL1|ATP6V1EL1 pseudo 1351681 ATP6V1EP1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 1 531,343515 AC099795,NG_016586 ATP6EP1|ATP6V1EP1 pseudo 1343908 ATP6V1EP2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 2 532 1351850 ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq] 631896,1580863 8581736,18752060,8621738,15489334,14597263,14580332,12788495,12690205,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9210392,8012384,16169070,8889548,17662945,2874839,19723111 631896 9296 NM_004231,AC025594,CH236950,CH471070,Z55117,Z61564,AK312214,BC104230,BC104231,BC107854,BG724326,CR456896,D49400,BU683155,BU956696,DB499437,NM_001198909 NP_004222,EAL24110,EAW83692,EAW83693,BAG35147,AAI04231,AAI04232,AAI07855,CAG33177,BAA08392,Q16864,NP_001185838 Hs.78089 ATP6S14|MGC117321|MGC126037|MGC126038|VATF|Vma7 ATPase, vacuolar, 14 kD|H(+)-transporting two-sector ATPase, 14kD subunit|V-ATPase 14 kDa subunit|V-ATPase F subunit|V-ATPase subunit F|V-type proton ATPase subunit F|adenosinetriphosphatase 14k chain|vacuolar ATP synthase subunit F|vacuolar proton pump F subunit|vacuolar proton pump subunit F protein-coding 1320793 ATP6V1G1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq] 1298632,1580863 16189514,16169070,15489334,14597263,14580332,12788495,12477932,12384298,11836511,11042152,10440860,10340843,10224039,10221984,9653160,9442887,9210392,17207965,17662945,2874839,17360703 1298632 9550 NM_004888,AL160275,CH471090,AF038954,AI092246,BC003564,BC008452,BF692207,BI596632,CR456971,CR542237,CR591741,CR596352,CR607789,CR614473,CR617444 NP_004879,CAH73481,EAW87424,EAW87425,AAC39868,AAH08452,CAG33252,CAG47033,O75348,Q6IB33,ADQ32411 Hs.388654 ATP6G|ATP6G1|ATP6GL|ATP6J|DKFZp547P234|Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J|V-ATPase 13 kDa subunit 1|V-ATPase subunit G 1|V-type proton ATPase subunit G 1|atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 1|vacuolar ATP synthase subunit M16|vacuolar H(+)-ATPase subunit G 1|vacuolar proton pump subunit G 1|vacuolar proton pump subunit M16 protein-coding 3051015 ATP6V1G1P3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3 100462838 AL355987,NG_021680 pseudo 3051013 ATP6V1G1P4 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4 100462843 AL157783,NG_022168 pseudo 3051014 ATP6V1G1P5 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5 100462840 AC008385,NG_021901 pseudo 3077590 ATP6V1G1P6 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6 100462732 AC112197,NG_021444 pseudo 1347481 ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1302931,1580863 14574404,12788495,12665801,12477932,12384298,11836511,10440860,10340843,10224039,10221984,10202016,9442887,9210392,14667819,17081065,14597263,14580332,17662945,2874839,19851445,20379614,19913121,20628086,20854863 1302931 534 NM_130463,NM_138282,AB063177,AB088115,AB097672,AB102692,AB103621,AB202112,AL662801,AL662847,BA000025,BX001040,BX248516,BX927320,CH471081,CR753820,CR753864,CR753892,CR942185,Y14768,BC047791,BC068023,BC119726,BC119727 NP_569730,NP_612139,BAC00863,BAC54952,BAD74057,BAD74058,BAF31286,BAE78636,CAI18287,CAI17673,BAB63399,CAI18639,CAI18640,CAI41929,CAI41930,CAQ09987,CAQ09988,EAX03414,EAX03416,CAQ10647,CAQ10648,CAQ06925,CAQ06926,CAA75073,AAH68023,AAI19727,AAI19728,O95670,Q2L6F8,Q5RJ63,Q6NVJ2 Hs.249227 ATP6G|ATP6G2|NG38|VMA10 ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G|H(+)-transporting two-sector ATPase, subunit G2|V-ATPase 13 kDa subunit 2|V-ATPase G subunit 2|V-ATPase subunit G 2|V-type proton ATPase subunit G 2|atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 2|vacuolar ATP synthase subunit G 2|vacuolar proton pump G subunit 2|vacuolar proton pump subunit G 2 protein-coding 1312186 ATP6V1G3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17662945,2874839,17360703,19366680,16710414,15489334,14597263,14580332,12788495,12477932,12384298,11836511,10440860,10340843,10224039,10221984,9442887,9210392,1415677,20139978 127124 AC212752,NM_133262,NM_133326,AL157402,CH471067,AY039760,BC101129,BC101130,BC101131,BF509031,BX114684 NP_573569,NP_579872,CAI15638,EAW91298,EAW91299,AAK83465,AAI01130,AAI01131,AAI01132,Q96LB4 Hs.127743 ATP6G3|MGC119810|MGC119813|Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3|OTTHUMP00000033686|OTTHUMP00000216846|V-ATPase 13 kDa subunit 3|V-ATPase G subunit 3|V-ATPase G3 subunit|V-ATPase subunit G 3|V-type proton ATPase subunit G 3|vacuolar ATP synthase subunit G 3|vacuolar proton pump G subunit 3|vacuolar proton pump subunit G 3|vacuolar proton pump, subunit G3 protein-coding 1348011 ATP6V1GP1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 1 319116 NG_001019,AL122127 ATP6V1GP1 pseudo 1605148 ATP6V1GP2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 2 619450 NG_005483,AC120036 ATP6V1GP2 pseudo 1320995 ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit. [provided by RefSeq] 1580863 12058068,11836511,10931946,10810093,11463741,16169070,19815536,9442887,9620685,11179428,12032142,16103193,2014052,18368028,15489334,14702039,14597263,14580332,12788495,12539959,12477932,12163484,2874839 51606 CR607523,CR616924,CR619990,NM_015941,NM_213620,AC022887,AC103778,AC113194,AL833183,CH471068,AF112204,AF113222,AF125105,AF132945,AF298777,AI741756,AK022345,AK094839,AK098305,AK303229,AK308204,AL598970,BC007421,BC007454,BC014862,BC025275,CR592283,NM_213619 Q8TF11,Q9UI12,NP_998784,NP_057025,NP_998785,EAW86727,EAW86728,EAW86729,EAW86730,EAW86731,EAW86732,EAW86733,AAF17192,AAG39293,AAL75942,AAD27720,AAG22809,BAG51072,BAG53609,BAG64316,AAH25275 Hs.491737 CGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13 V-ATPase 50/57 kDa subunits|V-ATPase H subunit|V-ATPase subunit H|V-type proton ATPase subunit H|nef-binding protein 1|protein VMA13 homolog|vacuolar ATP synthase subunit H|vacuolar ATPase subunit H|vacuolar proton pump H subunit|vacuolar proton pump subunit H|vacuolar proton pump subunit SFD protein-coding 10216 ATP7A ATPase, Cu++ transporting, alpha polypeptide 734621,1580863 9817923,15670166,10497213,16397091,11092760,9467005,8943055,10567439,12812980,19194885,19127267,18752978,18688737,18565219,18515074,18272047,18030470,17989919,17987894,17717039,17562324,17545667,17531189,17496194,17178205,17158254,17109627,17108763,16884690,16873374,16826513,16344560,16317117,16211579,16172131,16083905,16051599,15981243,15772651,15342556,15135234,14977365,14644159,14635105,14572476,12679332,12676902,12565888,12539963,12539960,12485192,12221109,11936860,11431706,11350187,11241493,11214319,11040994,10970802,10739752,10557326,10484781,10401004,10319589,14985388,19679821,10079817,10079814,9693104,9668166,9437429,9246006,9147644,8981948,8947031,8923001,8490659,8490647,8490646,7977350,7842019,7607665,7490081,15071553,20671235,19046832,19453293,19645496,19917612,20045993,20170900,20714486,20566629,21117320 734621 538 U27360,U27381,X82336,Z94753,Z94801,AB117973,AB208828,AK299449,BP364137,BX503903,CD299174,CR605420,DB164588,L06133,L06476,NM_000052,AL356235,AL645821,AL772330,AY011418,CH471104,HC679684,NG_013224 EAW98605,EAW98606,AAA96010,CAB94714,CAB08160,CAB08162,BAC82353,BAD92065,BAG61422,AAA35580,AAA16974,Q04656,Q59HD1,Q762B6,AAI56438,NP_000043,CAI42806,AAG47452,CBL93959 Hs.496414 DSMAX|FLJ17790|MK|MNK|SMAX3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)|Cu++-transporting P-type ATPase|Menkes disease-associated protein|atpase, cu++ transporting, alpha polypeptide|copper pump 1|copper-transporting ATPase 1 protein-coding 731392 ATP7B ATPase, Cu++ transporting, beta polypeptide This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq] 2292670,2298865,1643593,2298864,2292672,734622 20333758,20739809,20485189,16567646,12029094,12763797,16472602,16554302,16884690,15269005,16939419,8298641,15681833,19478447,19419418,19371217,19296535,19181666,19141620,19062534,19033537,18974300,18855987,18841562,18809983,18698682,18692069,18688737,18652531,18637198,18636185,18593893,18565219,18558714,18521802,18483695,18373411,18371106,18203200,18180385,17949296,17944925,17919502,17897870,17876883,17823867,17718866,17717039,17680703,17660582,17634212,17587212,17562324,17531189,17410460,17325640,17317524,17272994,17229731,17171802,17160357,17109627,16700326,16676348,16632204,16571664,16416207,16377579,16310588,16283883,16230279,16215951,9600907,9554743,9482578,9311736,9307043,9222767,8980283,8938442,8931691,8889549,8782057,8533760,8298640,8298639,8250934,7833924,7762553,7626145,16088907,15967699,15963506,15952988,15845031,15557537,15519648,15511628,15337266,15205462,15158437,15154620,15135234,15102688,15057823,15024742,14986826,14966923,14709553,14616767,14514926,12968035,12885331,12820478,12812649,12579336,12579329,12557139,12551905,12544487,12539962,12539960,12477932,12445675,12325021,12216079,12196182,12186999,11857545,11823463,11806854,11802810,11775546,11775208,11690702,11470780,11405812,11243728,11180609,11053407,11043508,10942420,10940336,10790207,10721669,10557326,10544227,10502777,10502776,10497213,10447265,10334941,10051024,9887381,9829905,9772425,9724794,9671269,16211609,15071553,20931554,12572677,19046832,19416479,19520855,19634275,19645496,19783880,20032459,20045993,20082719,20124325,20201926,20362556,20465995,20491539,17196137,20965182,20799727,20566629,20430895,21117320 2292670,2298865,1643593,2298864,2292672,734622 540 NM_001005918,NM_000053,NG_008806,AF034838,AF220215,AF254559,AF254560,AL138821,AL139082,AL162377,CH471075,S77446,S77447,S77450,AA047378,AB209461,AK302074,AK302490,BC117200,BC143973,BC143974,BC143975,BC143976,BX479483,BX648261,CR591822,CR606188,DQ015922,L25442,L25591,U03464,U11700 NP_001005918,NP_000044,AAD01998,AAF67661,AAG27536,AAG27537,CAI12888,CAI13428,EAX08892,EAX08893,EAX08894,EAX08895,EAX08896,AAD14987,AAB34086,AAB34087,BAD92698,BAG63463,BAG63775,AAI17201,AAI43974,AAI43976,AAI43977,AAY41166,AAA16173,AAA79211,AAA79212,AAB52902,AAA92667,P35670,Q17RT3,Q9GZP5,Q9NZ25,CAI13743 Hs.492280 PWD|WC1|WD|WND ATPase, Cu(2+)- transporting, beta polypeptide|Wilson disease-associated protein|copper pump 2|copper-transporting ATPase 2 protein-coding 3051021 ATP7BP1 ATPase, Cu++ transporting, beta polypeptide pseudogene 1 100462825 AC099849,NG_022482 pseudo 1320053 ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 631958,1580863 10198212,18519826,17229723,15342556,12477932,11015572,9548971,9110174,8619474,20379614,15071553,15919184 631958 10396 NM_006095,NM_001105529,AC084010,AC096734,AC110788,AC139717,CH471069,AB013452,AB209687,AF035315,AF067820,AK027252,BC020943,BC109317,BC109318,BP232466,BX648675 Q4W5J7,Q4G1C1,Q4W5P2,Q59EX4,Q9Y2Q0,NP_006086,NP_001098999,AAY40980,AAY40924,EAW93003,EAW93004,BAA77248,BAD92924,AAD34706,AAH20943,AAI09318,AAI09319,Q32M35,Q32M36 Hs.435052 ATPASEII|ATPIA|ATPP2|MGC130042|MGC130043|MGC26327 ATPase II|ATPase class I type 8A member 1|aminophospholipid translocase|chromaffin granule ATPase II|probable phospholipid-transporting ATPase IA protein-coding 1344629 ATP8A2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 1580863 10551800,15057823,14702039,11015572,12477932,19778899,20379614 51761 NM_016529,AL136438,AL138815,AL138958,AL157366,AL356316,AL669971,CH471075,AF236871,AK094653,AK126031,AK127263,AK302980,AK310254,AL137256,AL390129,BC144228,BC144229,BX537836 NP_057613,CAH70146,CAH70513,CAH71291,CAH74073,CAH70876,CAH73647,EAX08372,EAX08373,EAX08374,EAX08375,EAX08376,AAF40215,BAC04396,BAC86402,BAC86905,BAH13866,CAB70658,CAB99084,CAD97848,Q6ZSP3,Q6ZU25,Q9NTI2,AAI56472,AAI72535 Hs.444957 ATP|ATPIB|DKFZp434B1913|IB|ML-1 ATPase class I type 8A member 2|ATPase, aminophospholipid transporter-like, class I, type 8A, member 2|probable phospholipid-transporting ATPase IB protein-coding 1318284 ATP8B1 ATPase, class I, type 8B, member 1 This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq] 1580863,1599397 9500542,12880872,16628629,11682026,19478059,19228886,20447715,19027009,18951430,18668687,17948906,15946126,15888793,15489334,15239083,14988830,12477932,11093741,11015572,10679031,9918928,9548971,7894490,7655458,5762004,16341674,19381753,19479804,19731236,19809379,19890347,19918981,20038848,20232290,20512993,20852622,20216097,20414253,20683201,15071553,15919184 1599397 5205 NM_005603,NG_007148,AC027097,CH471096,AF032442,AF038007,AK128536,BC003534,AC022724,AA234929,AI625486,AI914078,BG403134,BM796053,CB052296,CV572801,DR005588 NP_005594,EAW63054,EAW63055,AAC04328,AAC63461,AAH03534,O43520,AAI72221 Hs.216623 ATPIC|BRIC|FIC1|PFIC|PFIC1 ATPase, class I, type 8B, member 1|E1-E2 ATPase|familial intrahepatic cholestasis type 1|phospholipid-transporting ATPase IC|probable phospholipid-transporting ATPase IC protein-coding 1318635 ATP8B2 ATPase, class I, type 8B, member 2 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 12880872,15489334,14702039,12477932,11015572,10574461,19913121,20628086,15071553,15919184 57198 BC069264,BC063858,CR621246,NM_001005855,NM_020452,AL162591,CH471121,AB032963,AI857468,AK054886,AK304806,AL137537,AY302537,BC007837,BC030288,BC041573 AAH69264,AAH63858,P98198,Q5VZ21,Q6P3T1,AAI40442,NP_001005855,NP_065185,CAH72857,CAH72858,EAW53204,EAW53205,EAW53206,EAW53207,EAW53208,BAA86451,BAB70822,BAG65556,CAB70799,AAQ19027,AAH07837,AAH30288 Hs.435700 ATPID|DKFZp434M0219|KIAA1137 phospholipid-transporting ATPase ID|probable phospholipid-transporting ATPase ID protein-coding 1316924 ATP8B3 ATPase, class I, type 8B, member 3 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene encodes the member 3 of the phospholipid-transporting ATPase 8B. [provided by RefSeq] 1580863 19416921,12880872,14702039,12477932,11015572,146761 148229 BU542181,NM_001178002,NM_138813,AC004755,AC012615,CH471139,AK057452,AK058189,AK125225,AK125969,AY302538,BC033179,BC035162,BX427831 NP_001171473,NP_620168,AAC17601,EAW69454,EAW69455,EAW69456,EAW69457,EAW69458,EAW69459,EAW69460,EAW69461,EAW69462,EAW69463,BAB71492,BAB71708,BAC86088,AAQ19028,AAH35162,O60423,Q6ZUX8,Q7Z485,Q96LI4 Hs.306212 ATPIK ATPase, class I, type 8B, member 3|aminophospholipid translocase ATP8B3|potential phospholipid-transporting ATPase IK|probable phospholipid-transporting ATPase IK protein-coding 1315485 ATP8B4 ATPase, class I, type 8B, member 4 1580863 16572171,14702039,12880872,12477932,11853319,11015572,10737800,17998437,20379614 79895 NM_024837,AC009753,AC016045,AC025040,CH471082,AB075819,AK025125,AK123747,AK128602,BC057236,BC144297,BC144298,BE241899,BF898163,BF898268,BI258773,BX647496 NP_079113,EAW77380,EAW77381,EAW77382,EAW77383,BAB85525,BAB15072,BAG53950,AAH57236,Q6PG43,Q8TF62,AAI66692 Hs.511311 ATPIM|FLJ25418 potential phospholipid-transporting ATPase IM|probable phospholipid-transporting ATPase IM protein-coding 1352358 ATP8B5 ATPase, Class I, type 8B, member 5 11015572 57195 735480 ATP9A ATPase, class II, type 9A 1580863 18519826,14702039,12477932,11780052,11015572,9734811,20379614 10079 NM_006045,AL035684,AL138807,AL353799,CH471077,AB014511,AF086357,AK025559,AK026513,AK172802,AK299064,BC016044,BC036759,BC043392,BC063701,BC110591,BC110592,CR620342 NP_006036,CAI19202,CAI19203,CAI22924,CAI22925,CAI18889,CAI18890,EAW75597,EAW75598,EAW75599,EAW75600,BAA31586,BAD18775,BAG61130,AAH16044,AAI10592,AAI10593,O75110,Q2NLD0,Q96B35,AAI67819 Hs.726016 ATPIIA|KIAA0611 ATPase type IV, phospholipid-transporting (P-type),(putative)|OTTHUMP00000043371|phospholipid-transporting ATPase IIA|probable phospholipid-transporting ATPase IIA protein-coding 1353015 ATP9B ATPase, class II, type 9B 631958,1580863 16177791,14702039,12477932,11124703,11015572,9548971 631958 374868 NM_198531,AC023090,AC099689,AC104423,AC125437,CH471117,AJ006268,AK093704,AK097757,AK127634,AK128142,AK128847,AK130499,AK130839,AK295981,AK308291,AL096735,AW411030,BC022535,BC037546,BC053561,BC125219,BC125220,BX537860,BX648948,U78978,BC036473 NP_940933,EAW66609,EAW66610,EAW66611,EAW66612,EAW66613,EAW66614,EAW66615,EAW66616,CAA06934,BAG52750,BAC87065,BAC87644,BAC85365,BAC85443,BAG58756,CAH10731,AAH53561,AAI25220,AAI25221,CAD97865,AAC05243,O43861,Q69YZ7,Q6ZNQ7,Q6ZNW8,Q6ZQP0,Q6ZS89,Q7Z3J4,Q7Z6L4 Hs.465475 ATPASEP|ATPIIB|DKFZp686H2093|FLJ46612|HUSSY-20|MGC150650|MGC150651|MGC61572|NEO1L ATPase type IV, phospholipid transporting (P-type)|probable phospholipid-transporting ATPase IIB protein-coding 1313436 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified, but the biological validity of some of these variants has not been determined. [provided by RefSeq] 12965202,12477932,12206899,11410595,20379614,20877624 64756 NM_001042546,NM_022745,AL136373,AL593856,CH471059,AF111705,AJ710373,AK026004,AK301874,AK302090,AK310338,AK311271,BC008498,BC018781,BC071731,BX438342,CR600112,CR601689,CR607719,CR623971,DB483450 NP_001036011,NP_073582,CAI14761,CAI16978,EAX06896,EAX06897,AAM12421,BAB15316,BAH13572,BAH13622,AAH08498,AAH18781,AAH71731,Q5TC12,Q8TE08,ACE87180,ACE86499 Hs.100874 ATP11|ATP11p|FLJ22351|MGC88060 ATP synthase mitochondrial F1 complex assembly factor 1|ATP11 homolog|homolog of yeast ATP11 protein-coding 1313025 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq] 1580863 11410595,14757859,11256614,16381901,15489336,15489334,12477932,11997338,11076863,9110174,8619474,19933271,20167577,20877624 91647 NM_145691,AC087163,CH471196,AA760883,AF052185,AF070584,AI857387,AK290257,AK294487,AY203943,BC004114,BC032126,CR596170,CR600553,NG_012824 NP_663729,EAW55676,EAW55677,EAW55678,EAW55679,EAW55680,BAF82946,BAG57709,AAP34466,AAH04114,AAH32126,Q8N5M1,CAL38119 Hs.528889 ATP12|ATP12p|LP3663|MGC29736 ATP synthase mitochondrial F1 complex assembly factor 2|ATP12 homolog|OTTHUMP00000065660 protein-coding 1603188 ATPBD4 ATP binding domain 4 16344560,15489334,14702039,12477932,19913121,20628086,20379614,20732626 89978 NM_080650,NM_001141972,AC015994,AC019288,CH471125,AK094007,AK125017,AL833427,BC008485,BC066652,BX537862,CR622071,DB250468 NP_542381,NP_001135444,EAW92327,BAC04266,BAG54123,AAH08485,AAH66652,Q7L8W6 Hs.107196 MGC14798 ATP-binding domain-containing protein 4 protein-coding 2301770 ATPGD1 ATP-grasp domain containing 1 12477932,10718198,12421765,20097752 57571 NM_020811,AP003419,CH471076,AB037815,AK289938,EF560746,NM_001166222,AK294035,AK295331,BC036557 NP_065862,EAW74617,BAA92632,ABQ59056,A5YM72,NP_001159694,BAG57387,BAG58305,BAF82627,AAH36557 Hs.502982 ATPGD1|KIAA1394 ATP-grasp domain containing 1|ATP-grasp domain-containing protein 1|carnosine synthase 1 protein-coding 1312589 ATPIF1 ATPase inhibitory factor 1 This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 15528193,12110673,10664857,17851741,16806233,16713569,15809073,15635413,15489334,14702039,12477932,11742976,16169070,20379614,20538613,18029348,20877624,20374090 93974 NM_178191,NM_178190,NM_016311,AL353622,AY005470,CH471059,AB029042,AF114836,AK000934,AK316600,BC004955,BC009677,BG036978,BG714388,BT009849,CR457097,CR592071,CR597880,CR621184,AL050386,BC017562 NP_835498,NP_835497,NP_057395,CAI19134,AAF97495,EAX07704,EAX07705,EAX07706,BAA88422,AAP97235,BAG38187,AAH04955,AAH09677,AAP88851,CAG33378,Q5JXL8,Q6IAQ7,Q9BSL9,Q9UII2,CAI46227,ACE87650,ACE86960 Hs.726089 ATPI|ATPIP|IP|MGC1167|MGC8898 ATP synthase inhibitor protein|ATPase inhibitor protein|ATPase inhibitor, mitochondrial|IF(1)|IF1|inhibitor of F(1)F(o)-ATPase protein-coding 1345188 ATQL2 antiquitin-like 2 9417906,9417906 542,542 AC009484,NG_023632 ATQL2 aldehyde dehydrogenase 7 family, member A1 pseudogene 2 pseudo 1353754 ATQL3 antiquitin-like 3 9417906 543 NG_001083,AC069304,AF002694 ATQL3 pseudo 1350929 ATQL4 antiquitin-like 4 9417906 544 NG_001084,AC067751,AF002695 ATQL4 pseudo 1314047 ATR ataxia telangiectasia and Rad3 related The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq] 1580863,1599404,2317234 20427287,15527801,15496423,15466211,15456891,15451423,15374968,15314022,15302935,15282542,15279777,15235112,15210935,15050919,14988723,14871897,14755251,14742437,14729973,14724280,12959929,12915485,12814551,12791985,12791699,12773400,12766152,12738771,12679521,12640452,12629512,12526805,12519769,12493754,12446774,12147700,12024051,12011431,11927575,11883897,11865061,11799063,11790298,11721054,11715017,11709713,11688760,11673449,11551930,11470508,11459832,11418864,11393670,11390642,11252893,11163154,11114888,10973490,10951572,10889046,10859164,10749680,10747897,10673501,10608806,10597277,10545197,9925639,9857181,9766667,9765199,9636169,9427750,8978690,8843195,16956949,16354571,16306615,15650754,15485898,15159397,11278964,11016625,15933716,15775976,15195100,20566845,16713580,14657349,8610130,9590286,15538388,15707391,19470935,19372558,19351817,19285939,19244116,19242509,19197236,19146767,19124506,19119425,19116388,19109555,19097996,19074885,19064572,19064565,19004803,18985806,18950845,18936170,18757420,18664457,18625709,18550533,18536714,18519640,18495871,18480045,18451257,18451105,18434539,18381943,18357388,18245444,18202016,18162465,18032786,18025301,18003706,17976513,17934520,17879369,17716975,17686975,17638878,17616665,17616578,17526493,17478428,17409144,17384681,17376433,17292679,17210576,17157788,17140287,17124492,17035231,17030982,17015476,17010193,16968694,16951182,16909103,16880517,16827800,16757521,16741947,16738325,16705183,16675950,16540648,16530042,16474843,16461339,16436511,16431910,16293623,16260606,16195237,16086026,16009130,15987455,15854902,15758953,15743907,15734998,15680327,15650165,15635413,15616588,15539948,15533933,20084458,20818375,15149599,16943440,17148452,18642075,18931676,19154794,19444312,19477925,19527713,19536649,19570909,19584262,19586908,19633697,19690177,19805520,19828454,19903823,20029092,20048340,20060399,20103595,20147462,20233725,20453000,20469721,20496165,20513533,9733515,20861269,19714462,20515729,20616048,20634891,20810650,16872911,18995830,20731661,21077165 1599404,2317234 545 NM_001184,NG_008951,A61385,AC109992,AC134509,AF325699,CH471052,AB208847,AK307402,BE859077,DC346860,U49844,U76308,Y09077 NP_001175,CAA03590,AAK26749,EAW78969,EAW78970,BAD92084,AAC50405,AAC50929,CAA70298,Q13535,AAI72404 Hs.271791 FRP1|MEC1|SCKL|SCKL1 FRAP-related protein 1|FRAP-related protein-1|MEC1, mitosis entry checkpoint 1, homolog|Rad3 related protein|ataxia telangiectasia and Rad3-related protein|protein kinase ATR|serine/threonine-protein kinase ATR protein-coding 1625848 ATRIP ATR interacting protein The product of this gene is an essential component of the DNA damage checkpoint, and binds to single-stranded DNA coated with replication protein A that accumulates at sites of DNA damage. The encoded protein interacts with the ataxia telangiectasia and Rad3 related protein, a checkpoint kinase, resulting in accumulation of the kinase at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 14657349,15707391,12791985,18950845,17638878,17616665,17339343,17327276,17203973,17171639,16959771,16713580,16530042,16407120,16186122,16176973,16027118,15758953,15743907,15527801,15489334,15451423,15210935,14724280,14702039,12477932,11721054,11278605,11181995,15798197,19097996,16189514,20048340,18995830,20861269,19913121,20628086 84126 NM_032166,AC104448,CH471055,AF451323,AK022405,AK291568,AK291829,AK300548,AK315075,AL832917,BC014153,BC020563,NM_130384,BC030597,CR622505 NP_569055,NP_115542,EAW64875,EAW64876,EAW64877,EAW64878,EAW64879,EAW64880,EAW64881,EAW64882,AAL38042,BAB14029,BAF84257,BAF84518,BAG62254,BAG37544,CAH10621,AAH14153,AAH20563,AAH30597,Q8WXE1,ABM83164,ABM86364 Hs.694840 DKFZp762J2115|FLJ12343|MGC20625|MGC21482|MGC26740 ATM and Rad3-related-interacting protein|ATR-interacting protein|OTTHUMP00000210129 protein-coding 69117 ATRN attractin Multiple transcript variants encoding different isoforms exist for this gene. One of the isoforms is a membrane-bound protein with sequence similarity to the mouse mahogany protein, a receptor involved in controlling obesity. The other isoform is a secreted protein involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq] 1299186,734623,1580863 10086356,9736737,19384953,19320733,16835316,16344560,16335952,15489334,14760718,12675230,12665801,12477932,11780052,10811918,10086355,9628581,8596018,17261078,1476071,20198559,19535787,20379614 1299186,734623 8455 NM_139321,NM_139322,AF218889,AF218910,AF218915,AL109805,AL132773,AL353193,CH471133,AA771958,AB011120,AF106861,AK000356,AK293010,AK302730,BC009724,BC101705,BE326239,DB240822,EC440053 NP_647537,NP_647538,AAF72881,AAF72882,CAI21876,CAI21878,CAI22614,CAI22616,CAH70471,CAH70472,EAX10530,EAX10531,EAX10532,BAA25474,AAD03057,BAF85699,BAG63948,AAH09724,AAI01706,O75882,Q96D99 Hs.276252 DPPT-L|KIAA0548|MGC126754|MGCA attractin|attractin-2|mahogany homolog|mahogany protein protein-coding 1607060 ATRNL1 attractin-like 1 16385451,18821597,20379614,14531729,9628581,21130836,12477932 26033 NM_207303,AC022542,AC091667,AL355530,AL356100,AL357059,AL392087,AL512304,CH471066,AB011106,AK127277,AK294917,AK299592,AW190029,AY442317,BC029592,BC035157,BC046219,BC047716,BC139916,BC139923,BX500409,CR602409,CR612664,CR614866 NP_997186,CAI13482,CAI13483,CAI40416,CAI40417,CAH70625,CAI40793,CAI40794,CAH74015,EAW49459,EAW49460,EAW49461,BAA25460,BAC86914,BAG58002,BAG61524,AAR14297,AAH35157,AAH47716,AAI39917,AAI39924,Q4G0Y2,Q5VV63,AAI68382 Hs.501127 ALP|FLJ45344|KIAA0534|bA338L11.1|bA454H24.1 attractin-like protein 1 protein-coding 1605736 ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 19394292,21056573,7697714,12953102,17353931,10742099,10570185,7874112,19088125,19064565,19017809,18922870,18409179,18227278,17957225,17609377,17579672,17296936,17081983,16537041,16480427,16376512,16344560,16266892,15882967,15772651,15635413,15591283,15508018,15466868,15350606,15302935,14990586,14690447,14645126,14592816,12858175,12777533,12477932,12205100,12116232,11823444,11050622,10995512,10851248,10751095,10737800,10699177,10660327,10398237,10204841,9499421,9326931,9321665,9244431,9043863,8968741,8889548,8630485,8162050,8001970,3658675,3177467,1684092,1605216,1415255,16169070,10417298,21029860,15964851,19129197,19671661,19764021,20110566,20147399,20159591,16712791,19919584 546 NM_000489,NG_008838,AB101681,AB101682,AB101683,AB101684,AB101685,AB101686,AB101687,AB101688,AB101689,AB101690,AB101691,AB101692,AB101693,AB101694,AB101695,AB101696,AB101697,AB101698,AB101699,AB101700,AL109753,NM_138270,AL121874,CH471104,L34363,U72935,U75653,U97103,X83753,Z84487,AA484729,AA732359,AB102641,AB208928,AB209545,AI733378,AK293241,AK295107,AK296959,AK297183,AK307791,AK308419,BC002521,BE927791,BM714186,BQ189245,BT007188,BX647222,CB114986,CR605020,CR610856,DA759777,DR422800,U09820,U72936,U72937,U72938 NP_612114,NP_000480,BAC80270,BAC80271,BAC80272,BAC80273,BAC80274,BAC80275,BAC80276,BAC80277,BAC80278,BAC80279,BAC80280,BAC80281,BAC80282,BAC80283,BAC80284,BAC80285,BAC80286,BAC80287,BAC80288,BAC80289,CAI43115,CAI43116,CAI43117,CAB90351,CAI40710,EAW98611,EAW98612,EAW98613,EAW98614,EAW98615,AAA20872,AAB40698,AAB40699,AAB40700,AAC51655,AAC51657,CAA58711,CAI42674,CAI42675,CAI42677,BAC81110,BAD92165,BAD92782,BAH11474,BAG58140,BAG59503,BAG59673,AAH02521,AAP35852,AAC50069,AAB49969,AAB49970,AAB49971,P46100,Q86U63,AAI56297 Hs.533526 ATR2|MGC2094|MRXHF1|RAD54|RAD54L|SFM1|SHS|XH2|XNP|ZNF-HX ATP-dependent helicase ATRX|DNA dependent ATPase and helicase|RAD54 homolog|X-linked helicase II|X-linked nuclear protein|Zinc finger helicase|alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)|helicase 2, X-linked|transcriptional regulator ATRX protein-coding 1344585 ATXN1 ataxin 1 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele. At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20477910,16713569,11136710,12757932,15016912,9097953,15615787,7647801,17557114,19259763,19235102,19049837,18519031,18439907,18337722,18231590,18216249,18182848,18160752,17925862,17442486,17190598,16967484,16831871,16614004,16497448,16389595,16380905,16311891,16121196,15878393,15750336,15342556,15300851,15292212,15167689,15148151,14985428,14756671,14583607,14574404,12757707,12741986,12477932,12411613,12360291,12093161,12062018,11973625,11807410,11804332,11781699,11121205,11001934,10713882,9353121,9353120,8872471,8634720,8619528,8358429,7951322,1582256,12659632,17110330,18029348,18166084,19208651,19451621,19500214,19597981,20018885,20069235,20097758,20132795,20220018,20308783,20379614,20936779 6310 NM_000332,NM_001128164,NG_011571,AC002112,AC002326,AL009031,AL031120,AL034375,AL137003,CH471087,S82497,AA774255,AK311274,BC010948,BC011026,BC014548,BC029401,BC039236,BC047894,BC063120,BC092446,BC113082,BC117125,BF666802,BF670717,BP365416,BX505133,N52856,X79204 NP_000323,NP_001121636,CAA15622,EAW55370,EAW55371,EAW55372,EAW55373,ADR83271,EAW55374,AAD14401,AAH11026,AAH14548,AAI17126,CAA55793,P54253,Q96C81,Q96FF1 Hs.434961 ATX1|D6S504E|SCA1 OTTHUMP00000016065|ataxin-1|spinocerebellar ataxia type 1 protein protein-coding 1351525 ATXN10 ataxin 10 The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.[supplied by OMIM] 724628,1599410,1599412,1580863 20548952,17353931,16385455,15201271,19259763,19234597,19171184,19147916,18386626,17846122,16498633,15489334,15461802,15148151,15127363,14702039,12477932,12235814,11891842,11256614,11230166,11017075,10591208,9973298,9818872,8421960,19936807,16344560,19835171,20379614 724628,1599410,1599412 25814 CH471138,Z84478,Z93784,Z95331,AF086923,AF119662,AK025734,AK095309,AK294348,AL050282,AL137374,BC007508,BI597255,CR456568,CR457381,CR591840,CR597143,CR597596,CR597776,CR598064,CR598962,CR599131,CR599864,NM_013236,CR608172,CR609486,CR611033,CR611700,CR616843,CR618273,CR620147,CR621682,CR606318,DB035174,DB548216,NG_016212,NM_001167621,R43701 NP_037368,EAW73392,EAW73393,CAI20373,CAQ09634,CAI20419,CAI41716,AAP97153,AAF17219,BAG57616,CAB43383,CAB70715,AAH07508,CAG30454,CAG33662,Q7Z524,Q9NTC6,Q9UBB4,ABM84166,ABM87569,NP_001161093 Hs.475125 E46L|FLJ37990|HUMEEP|SCA10 ataxin-10|brain protein E46 homolog|spinocerebellar ataxia type 10 protein protein-coding 1626546 ATXN1L ataxin 1-like 17322884,16344560,16121196,12477932,11181995,10737800 342371 NR_024612,NM_001137675,AC009127,AC010653,CH471166,AI927878,AK025113,AK025339,AL833385,AW450253,BC042985,BX537575,BX537596,DB097328 NP_001131147,EAW59221,P0C7T5 Hs.597095 BOAT|DKFZp667N0214|DKFZp686D05115|DKFZp686O1195|FLJ21460|FLJ21686 ataxin-1-like|brother of ataxin-1 protein-coding 1347160 ATXN2 ataxin 2 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq] 1580863 20647273,20740007,10814712,15663938,17392519,16835262,12812977,17097639,19430479,19401771,19259763,19235102,19049837,18602463,18311140,18265007,18182848,18160752,17923635,17850638,17715286,17712857,17440947,17353931,17149720,16713569,16389595,16205789,16115810,16078202,15826995,15533937,15300851,15265035,15148151,15124760,14756671,14702039,14534423,12940846,12671950,12545161,12524342,12477932,12107410,11872620,11804332,11689490,11471052,11311558,10973246,10713882,9989626,9480749,9225980,8896557,8896556,8896555,8358438,9575182,16169070,16687213,19676102,18029348,18166084,19430483,19862010,20016785,20069235,20181956,20190752,20383146,20542020,21045733,21060863 6311 NM_002973,AC002395,AC137055,CH471054,AA731027,AI083696,AK095017,AK128613,AK307803,AL042619,BC111757,BC114546,BF448025,CA389718,CR619107,U70323,U80749,Y08262,NG_011572 NP_002964,EAW97957,EAW97958,EAW97959,EAW97960,BAG52971,BAC87528,AAI11758,AAI14547,AAB19200,CAA69589,Q24JQ7,Q2M2R5,Q99700 Hs.76253 ATX2|FLJ46772|SCA2|TNRC13 ataxin-2|spinocerebellar ataxia type 2 protein|trinucleotide repeat containing 13|trinucleotide repeat-containing gene 13 protein protein-coding 1604832 ATXN2L ataxin 2-like This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq] 17392519,17081983,16964243,16713569,15782174,15489334,15302935,15144186,14769358,12477932,11784712,8896555,8619474,9110174,19615732,19915574,20473688,20935630 11273 BC082760,BC136584,BC144269,U70671,NM_148414,NM_148415,NM_148416,NM_145714,AC116346,AC133550,AC145285,CH471267,AF034373,AF070605,AJ317970,AJ317971,AJ317972,AJ317973,AJ317974,AK289981,AL137587,AY188334,AY188335,AY188336,AY188337,AY188338,BC010239,BC068012,NM_007245 AAH68012,AAH82760,AAI36585,AAB19201,Q63ZY4,Q8WWM7,NP_009176,NP_680780,NP_680781,NP_680782,NP_663760,EAW51986,EAW51987,EAW51988,EAW51989,EAW51990,EAW51991,EAW51992,EAW51993,EAW51994,EAW51995,EAW51996,AAC69607,CAC38068,CAC38069,CAC38070,CAC38071,CAC38072,BAF82670,AAO12056,AAO12057,AAO12058,AAO12059,AAO12060,AAH10239 Hs.460499 A2D|A2LG|A2LP|A2RP ataxin 2 related protein|ataxin-2 domain protein|ataxin-2-like protein|ataxin-2-related protein protein-coding 1606333 ATXN3 ataxin 3 Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 20625959,16525503,16713569,9124802,10915768,7655453,9580663,19492089,19429074,19259763,19235102,19185026,19065528,19049837,18927607,18599482,18449188,18391951,18391950,18385100,18358414,18353661,18182848,18160752,17956866,17948873,17935801,17696782,17693639,17683516,17632007,17626202,17488727,17440947,17434145,17302910,17079677,17000876,16967484,16822850,16791428,16724006,16687213,16624810,16389595,16344560,16126176,16118278,16087686,16040601,15952105,15808507,15767577,15630566,15544810,15537899,15489334,15345714,15316156,15265035,15236410,15223312,15210524,15140190,15128861,15026782,14756671,14746390,14679302,14661975,14659761,14602712,14559776,12944474,12944423,12940846,12914917,12873751,12857950,12832059,12766160,12486728,12477932,12297501,12166658,12127147,12084819,11804332,11450850,11121205,9535906,9373149,9274833,8640226,8358439,8125298,7874163,7825578,18199748,20376803,17082820,18990604,19382171,19503814,19542537,19575245,19615732,19660550,19661182,19672991,19714377,19783548,19843543,20017304,20069235,20140862,20219685,20334689,19935829,20533274,20546612,20637808,20865150,20943656 4287 NM_030660,NM_001127697,NM_001127696,NM_004993,NG_008198,AB038653,AL049872,AL121773,CH471061,AB050194,AB209309,AK225884,AK307720,AK314919,BC022245,BC033711,BC095402,BU190081,BU663113,CR602562,DA827537,S75313,U64820,U64821,U64822,GQ176435,GQ176436,GQ176437,GQ176438,GQ176443,GQ176445,GQ176446,GQ176452,GQ176453,GQ176454,GQ176455,GQ176456,GQ176457,GQ176459,GQ176461,GQ176462,GQ176463,GQ176464,GQ176465,GQ176466,GQ176467,GQ176469,GQ176474,GQ176475,GQ176476,GQ176477,GQ176479,GQ176480,GQ176483,GQ176484,GQ176485,GQ176486,GQ176487,GQ176488,GQ176489,GQ176490,GQ176492,GQ176493,GQ176496,GQ176497,GQ176510,GQ176511,GQ176525,GQ176529,GQ176531,GQ176532,GQ176533,GQ176534,GQ176536,GQ176538,GQ176542,GQ176543,GQ176545,GQ176546,GQ176547,GQ176548,GQ176550,GQ176551,GQ176552,GQ176554,GQ176556,GQ176559,GQ176560,GQ176563,GQ176565,GQ176566,GQ176567,GQ176570,GQ176574,GQ176576,GQ176577,GQ176578,GQ176579,GQ176580,GQ176582,GQ176587,GQ176592,GQ176609,GQ176616,GQ176621,GQ176622,GQ176624,GQ176626,GQ176627,GQ176628,GQ176630,GQ176631,GQ176632,GQ176633,GQ176636,GQ176639,GQ176644,GQ176656,GQ176662,GQ176664,GQ176674,GQ176675,GQ176677,GQ176678,GQ176679,GQ176680,GQ176681,GQ176682,GQ176684,GQ176685,GQ176687,GQ176688,GQ176689,GQ176690,GQ176691,GQ176692,GQ176693,GQ176694,GQ176695,GQ176696,GQ176697,GQ176700,GQ176701,GQ176702,GQ176703,GQ176712,GQ176714,GQ176715,GQ176716,GQ176718,GQ176719,GQ176720,GQ176721,GQ176722,GQ176723,GQ176724,GQ176725,GQ176726,GQ176727,GQ176728,GQ176737,GQ176741,GQ176743,GQ176744,GQ176746,GQ176748,GQ176749,GQ176750,GQ176753,GQ176754,GQ176755,GQ176756,GQ176757,GQ176758,GQ176759,GQ176760,GQ176761,GQ176763,GQ176766,GQ176767,GQ176769,GQ176770,GQ176771,GQ176772,GQ176773,GQ176774,GQ176776,GQ176778,GQ176779,GQ176780,GQ176781,GQ176782,GQ176784,GQ176785,GQ176786,GQ176787,GQ176789,GQ176790,GQ176813,GQ176814,GQ176815,GQ176817,GQ176818,GQ176819,GQ176820,GQ176821,GQ176823,GQ176828,GQ176832,GQ176833,GQ176835,GQ176836,GQ176837,NM_001164774,NM_001164776,NM_001164777,NM_001164778,NM_001164779,NM_001164780,NM_001164781,NM_001164782,GQ176793,GQ176805,GQ176807,GQ176809,GQ176810,GQ176811,GQ176812,NR_028453,NR_028454,NR_028455,NR_028456,NR_028457,NR_028458,NR_028459,NR_028460,NR_028461,NR_028462,NR_028463,NR_028464,NR_028465,NR_028466,NR_028467,NR_028468,NR_028469,NR_028470,NR_031765,EU009923,HI179016,HI179018 NP_109376,NP_001121169,NP_001121168,NP_004984,BAB55645,BAB55646,EAW81471,EAW81472,EAW81473,EAW81474,EAW81475,BAB18798,BAD92546,AAH33711,AAH95402,AAB33571,AAB63352,AAB63353,AAB63354,P54252,Q4VBR4,Q59G00,ABM82208,ABW03377,ADD00637,ADD00638,ADD00639,ADD00642,ADD00643,ADD00644,ADD00645,ADD00646,ADD00647,ADD00648,ADD00649,ADD00650,ADD00651,ADD00652,ADD00653,ADD00654,ADD00655,ADD00656,ADD00662,ADD00663,ADD00668,ADD00669,ADD00670,ADD00671,ADD00672,ADD00675,ADD00676,ADD00677,ADD00678,ADD00679,ADD00680,ADD00681,ADD00682,ADD00684,ADD00685,ADD00686,ADD00688,ADD00690,ADD00691,ADD00692,ADD00694,ADD00699,ADD00703,ADD00706,ADD00707,ADD00709,ADD00730,ADD00731,ADD00732,ADD00733,ADD00710,ADD00711,ADD00712,ADD00714,ADD00715,ADD00718,ADD00728,ADD00729,ADD00734,ADD00736,ADD00737,ADD00738,ADD00739,ADD00740,ADD00741,ADD00744,ADD00745,ADD00746,ADD00750,ADD00751,ADD00752,ADD00753,ADD00754,ADD00755,ADD00756,ADD00757,ADD00759,ADD00760,ADD00762,ADD00764,ADD00765,ADD00766,ADD00767,ADD00768,ADD00769,ADD00770,ADD00771,ADD00772,ADD00774,ADD00775,ADD00776,ADD00777,ADD00778,ADD00779,ADD00780,ADD00782,ADD00783,ADD00784,ADD00785,ADD00786,ADD00787,ADD00788,ADD00789,ADD00792,ADD00797,ADD00800,ADD00801,ADD00802,ADD00803,ADD00804,ADD00805,ADD00809,ADD00810,ADD00811,NP_001158246,NP_001158248,NP_001158249,NP_001158250,NP_001158251,NP_001158252,NP_001158253,NP_001158254,ABS29269,CBX53817,CBX53818 Hs.532632 AT3|ATX3|JOS|MJD|MJD1|SCA3 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)|Machado-Joseph disease protein 1|OTTHUMP00000221584|ataxin-3|josephin|olivopontocerebellar ataxia 3|spinocerebellar ataxia type 3 protein protein-coding 1606478 ATXN3L ataxin 3-like 16344560,15772651,12477932,11450850 92552 NM_001135995,AC004674,CH471074,AB050195,AK302365,BC137186,BC137187,DB059638,DB460385,DB525796,DB540973,NG_021356 NP_001129467,EAW98819,BAB18799,BAG63689,AAI37187,AAI37188,Q9H3M9 Hs.382641 FLJ59638|MGC168806|MGC168807|MJDL machado-Joseph disease protein 1-like|putative ataxin-3-like protein protein-coding 1350255 ATXN7 ataxin 7 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with Spinocerebellar ataxia-7, contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The exact function of this gene is not known, however, since the encoded protein contains a nuclear localization sequence, and is found to be localized in the nucleus, it has been postulated to be a potential transcription factor. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq] 1580863 10441328,9288099,19259763,19235102,19172503,18325672,18216249,18182848,17720198,17254003,17026624,16962040,16713569,16389595,16325416,15936949,15932940,15316811,15302935,15148151,15115762,14702039,12944423,12533095,12070661,11804332,11734547,11709544,11697524,11580893,10713882,10598805,9425224,7829101,7647798,18029348,11371513,18206972,15342556,16494529,19789634,19843541,19909779,19955365,20069235,20634802,20739808 6314 NM_000333,NM_001128149,NG_008227,AC012557,AC104162,AF020276,AF032102,AF332956,CH471055,AA398030,AF032103,AF032104,AF032105,AJ000517,AK125125,AK304062,AL134602,BI494079,AK310745,BP220889,NM_001177387 NP_000324,NP_001121621,AAB87863,AAC19162,AAL79807,EAW65422,EAW65423,AAC19163,AAC19164,AAC39765,CAA04154,BAG64969,O15265,O43180,Q8TEZ8,Q9UPD8,AAI66666,NP_001170858 Hs.476595 ADCAII|FLJ17787|OPCA3|SCA7 OTTHUMP00000213405|ataxin-7|spinocerebellar ataxia type 7 protein protein-coding 1349210 ATXN7L1 ataxin 7-like 1 15115762,14702039,12477932,10574462,12421765 57485 Q8N7W9,Q9ULK2 AB033044,AK097574,BC003517,BC055009 BAA86532,BAC05107,AAH03517,Q9ULK2,Q8N7W9 Hs.489603 KIAA1218 protein-coding 1350736 ATXN7L2 ataxin 7-like 2 737633 20383146,16710414,12477932,16713569,19615732,20125088,20379614 737633 127002 NM_153340,AL355145,AK090460,BC036849,BC037582,CR600667,CR602365 NP_699171,CAI22937,CAI22938,BAC03441,AAH36849,Q5T6C5,Q8NF21 Hs.118248 FLJ00381|MGC46534 ataxin 7-like 1|ataxin-7-like protein 2 protein-coding 1342958 ATXN7L3 ataxin 7-like 3 18206972,15489334,14702039,12477932,16713569,19615732,15115762,20634802 56970 NM_020218,NM_001098833,AC004596,CH471178,AK056002,AK074344,AK126117,AK296689,AL390158,BC024695,BC037418,BC064932,BC100295,BC113595,BC126113 NP_064603,NP_001092303,EAW51622,BAB71070,BAG59283,CAB99093,AAH37418,AAI13596,AAI26114,Q14CW9,ADR82942 Hs.512651 DKFZp761G2113 SAGA-associated factor 11 homolog|ataxin-7-like protein 3 protein-coding 2816966 ATXN7L3B ataxin 7-like 3B 12477932,14702039,16344560,19615732 552889 AC025257,AK056642,AK095526,AL713650,BC009111,BX647460,CH471054,CX868912,DA298752,NM_001136262 AAH09111,EAW97284,NP_001129734 Hs.727494 FLJ32080|MGC17296 ataxin 7-like 3B protein-coding 1345348 ATXN7L4 ataxin 7-like 4 15489334,15115762,14702039,12690205,12477932 222255 Q8N2T0,Q9BTQ8 NM_152749,AC005099,AC007030,CH236947,CH471070,AK095475,BC030616 NP_689962,EAL24404,EAL24405,EAW83370,EAW83371,EAW83372,EAW83373,EAW83374,AAH30616,Q8N2T0,Q9BTQ8 Hs.489603 MGC33190 protein-coding 1603419 ATXN8 ataxin 8 19259763,19229559,19203395,18418692,16804541,19714377 724066 DQ641254,GQ176777 ABG34539,Q156A1,ADD00781 Hs.645205,Hs.532632 ATXN3 ataxin-8|protein 1C2 protein-coding 1346559 ATXN8OS ATXN8 opposite strand (non-protein coding) This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq] 19235102,18841561,18684474,16804541,16054804,15732096,15152344,15148151,14966165,14960773,14756671,12545428,12505613,12431257,12140678,11919683,11807410,11708995,11697524,10888605,10192387,17132942,18708037,19229559,19680445,19680539 6315 NR_002717,AL160391,AF126749,NG_016173 Hs.676453 KLHL1AS|NCRNA00003|SCA8 miscrna 1314501 AUH AU RNA binding protein/enoyl-Coenzyme A hydratase AU-specific RNA-binding enoyl-CoA hydratase (AUH) protein binds to the AU-rich element (ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding protein. Human AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa precursor protein which is subsequently processed to a 32-kDa mature form. [provided by RefSeq] 1599425,1580863 7892223,18978678,21150874,18831052,16640564,16381901,16344560,15489336,15489334,15033206,12655555,12477932,12434311,11738050,11076863,10072761,9108262,20877624 1599425 549 NM_001698,NG_008017,AL158071,AL353645,AL513353,CH471089,AK302453,AV751432,BC020722,BG706374,CR620952,DA724873,X79888 NP_001689,CAH72265,CAH72266,CAH73894,CAH73895,CAH72310,CAH72311,EAW62794,EAW62795,BAG63748,AAH20722,CAA56260,Q13825,CAL38298,ABM82962,ABM86153 Hs.175905 3-methylglutaconyl-CoA hydratase|AU RNA binding protein/enoyl-Coenzyme A hydratase|AU RNA-binding protein/enoyl-Coenzyme A hydratase|AU-binding protein/Enoyl-CoA hydratase|AU-specific RNA-binding enoyl-CoA hydratase|methylglutaconyl-CoA hydratase, mitochondrial protein-coding 1348320 AUNA1 auditory neuropathy, autosomal dominant 1 15520414 378942 1602731 AUP1 ancient ubiquitous protein 1 This gene encodes a protein that contains a domain with homology to the ancient conserved region of the archain 1 gene and a domain that may be involved in binding ubiquitin-conjugating enzymes. The protein encoded by this gene has been shown to bind to the conserved membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb) subunits. These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out signalling in platelets and megakaryocytes that leads to platelet aggregation and thrombus formation. This gene overlaps the gene for mitochondrial serine protease 25. [provided by RefSeq] 17353931,18029348,15489334,14702039,12534238,12534237,12477932,12042322,11042152,8812468,20562859 550 CR615352,CR619279,CR621843,CR622018,CR623109,CR623243,CR999537,CR749661,NM_181575,AC005041,CH471053,AF100746,AF100753,AF100754,AF165515,AI206563,AK023983,AK055566,AK293121,AK301398,AK304886,AK308231,AK310159,BC001658,BC033646,CR590508,CR592597,CR594250,CR595050,CR598997,CR599426,CR601374,CR602231,CR606924,CR607651,CR608478,CR608730,CR610588,CR612162,CR612507,CR613319 Q68CX8,Q9Y679,CAH18454,ACE87308,ACE86627,NP_853553,EAW99622,EAW99623,EAW99624,EAW99625,AAD43010,AAD43017,AAD43018,AAF86645,BAB14753,BAF85810,BAG62933,BAG65623,AAH01658,AAH33646 Hs.411480 OTTHUMP00000202724|ancient ubiquitous protein 1 protein-coding 1353168 AURKA aurora kinase A The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1643348,1643346,2293872,2293871,2293873,2293874,2293877,2293884,2293878,2293883,1580863 12244051,15987997,9153231,15504738,19487276,9605851,9514916,9174055,18592005,15064709,17353931,18667445,18663358,18663142,18641684,18628459,18615013,18566290,18562694,18485461,18469155,18466087,18431743,18391981,18372918,18361916,18361427,18353975,18321990,18314619,18311783,18284933,18043979,18027856,18019715,17974987,17957726,17935280,17926144,17925329,17914111,17909067,17908995,17898866,17851643,17850717,17786310,17705509,17686574,17673924,17634535,17634533,17634283,17627006,18669163,19440020,19435814,19412426,19357306,19306133,19232520,19230025,19197335,19157502,19124506,19111882,19074838,19060929,19059698,19028417,19001879,18931650,18854777,18823025,18815537,18812553,18803637,18802780,18790738,18776222,18773538,18708766,18707550,18676680,17604723,17599395,17591802,17563743,17505013,17488622,17465238,17457043,17452972,17438137,17433255,17390048,17333265,17229885,17219423,17143471,17125279,17120309,17113223,17102620,17060449,17060341,17018785,17003782,16951231,16912073,16894566,16890155,16860930,16849685,16772293,16767676,16574658,16572587,16412566,16411056,16381901,16377583,16337122,16332542,16158051,16082213,16080195,16049965,16011022,15966895,15944763,15880741,15867347,15860351,15839305,15802297,15793587,15754349,15749021,15688402,15598762,15592510,15536123,15534106,15489336,15489334,15469940,15466974,15289843,15271856,15271853,15190214,15173575,15147269,15128871,15087379,15078988,15041727,14990569,14744757,14692019,14667408,14603251,14580337,13678582,13678575,12927815,12883693,12881723,12833450,12716366,12693093,12684414,12631597,12559175,12490715,12477932,12467573,12354758,12237287,12198151,12177045,11976319,11903063,11847097,11790771,11784863,11780052,11551964,11413462,11256614,11076863,11039908,10377410,9771714,20460379,14600264,20854072,20865660,21059223,20382844,20168084,20444701,20459534,19799648,20713353,14602875,17441355,17441356,18390187,18434591,18662907,19170196,19204928,19351716,19494039,19550118,19551141,19564927,20629650,19616898,19625176,19648887,19649632,19652203,19671766,19672706,19690970,19692168,19696028,19738056,19801554,19812038,19821797,19822419,19874801,19891769,19901077,19954064,20002563,20003375,20043089,20160025,20182874,20182906,20368716,20373286,20379614,20453000,20464476,16712791,20593995,20603326,20682043,20819778,20922573,21050672 1643348,1643346,2293872,2293871,2293873,2293874,2293877,2293884,2293878,2293883 6790 NM_003600,NM_198433,NM_198435,NM_198434,NM_198437,NM_198436,NG_012133,AF011467,AF195947,AL121914,CH471077,AF008551,AF011468,AK301769,AK312776,AL711075,BC001280,BC002499,BC027464,BF029182,BM458030,BQ435059,BU171303,BU542363,CB113289,CB138172,CR611278,CR616247,CR621289,D84212,BC006423 NP_003591,NP_940835,NP_940837,NP_940836,NP_940839,NP_940838,AAC23448,AAF29508,CAC12717,CAI19324,CAI19326,CAI19327,EAW75550,EAW75551,EAW75552,EAW75553,EAW75554,EAW75555,EAW75556,EAW75557,EAW75558,EAW75559,EAW75560,EAW75561,EAW75562,AAC12708,AAC63902,BAG63228,BAG35640,AAH01280,AAH02499,AAH06423,AAH27464,BAA23592,O14965,Q5QPD1,Q5QPD2,Q5QPD4,CAL37826,ABM82196,ABM85384 Hs.250822 AIK|ARK1|AURA|AURORA2|BTAK|MGC34538|STK15|STK6|STK7 ARK-1|IPL1-related kinase|OTTHUMP00000031341|OTTHUMP00000166072|aurora-related kinase 1|aurora/IPL1-like kinase|aurora/IPL1-related kinase 1|breast tumor-amplified kinase|breast-tumor-amplified kinase|hARK1|serine/threonine kinase 6|serine/threonine protein kinase 15|serine/threonine-protein kinase 15|serine/threonine-protein kinase 6|serine/threonine-protein kinase aurora-A protein-coding 1606265 AURKAIP1 aurora kinase A interacting protein 1 12244051,19221504,18521620,17957726,17452972,16710414,16341674,15489334,15342556,15271856,14702039,13678582,12477932,8681137,18391981,17207965,18029348,20877624 54998 NM_017900,NM_001127229,NM_001127230,AC026283,AL139287,CH471183,AJ573456,AK000615,AW576100,BC022808,BC035595,BC046345,BC062333,BE903314,BF664406,BG764236,BM781908,BP198074,DN994953,F31434 NP_060370,NP_001120701,NP_001120702,CAI23191,EAW56218,EAW56219,BAA91289,AAH22808,AAH46345,AAH62333,Q6PI41,Q9NWT8,ADQ32127 Hs.632515 AIP|AKIP|FLJ20608 AURKA-interacting protein|OTTHUMP00000003014|aurora kinase A-interacting protein|aurora-A kinase interacting protein protein-coding 1350150 AURKAPS1 aurora kinase A pseudogene 1 12477932,9605851 6791 NR_001587,AL445435,BC050630 Hs.654849 AurAps1|STK6P serine/threonine kinase 6 pseudogene APPROVED pseudo 1352749 AURKAPS2 aurora kinase A pseudogene 2 386665 NG_003111,AC005383 STK6LP pseudo 731309 AURKB aurora kinase B Chromosomal segregation during mitosis as well as meiosis is regulated by kinases and phosphatases. The Aurora kinases associate with microtubules during chromosome movement and segregation. Aurora kinase B localizes to microtubules near kinetochores, specifically to the specialized microtubules called K-fibers, and Aurora kinase A (MIM 603072) localizes to centrosomes (Lampson et al., 2004 [PubMed 14767480]).[supplied by OMIM] 2293878,2293877,1580863 20548097,20622363,20643881,19059698,18974773,18767990,18728397,18716057,18710370,18708766,18640974,18628459,18602486,18563336,18477699,18463638,18301241,18201571,17726378,17686574,17617734,17558394,17488622,17457057,17356064,17235564,17215513,17164288,17094487,17084365,17001311,16980585,16916643,16912073,16764853,16762323,16572587,16565220,16222316,16222244,16179389,16179162,16171786,16046481,15993841,15923616,15922328,15917996,15699543,15597762,15562011,15509656,15499654,15489334,15280424,15263015,15249581,15130946,15072448,15064709,15033491,14767480,14722118,14674694,14610074,14602875,12925766,12686604,12477932,12466558,12419797,12082625,11976319,11856369,11784863,11756469,11516652,11471245,11413462,9931403,9858806,9809983,9514916,19176389,17322402,15260989,20629650,20889715,20430883,19951914,20354862,20705812,20562864,20451386,12689593,16291752,19342897,19287963,19225156,19203582,19188929,19157502,19150808,19134008,19074885,19074838,19357306,20605920,20629633,20171103,20864540,20865660,10949293,14744859,15761153,16169070,17274640,17681274,17956729,18195732,18591255,19189202,19218110,19465021,19468067,19494039,19596781,19626681,19649632,19696028,19704020,19786723,19823168,19838728,19887622,19995937,20007324,20112500,20157117,20177074,20182906,20231380,20368716,20467329,20471944,20508983,18773538,18946085,20619651 2293878,2293877 9212 NM_004217,AC135178,CH471108,AB011446,AB011450,AF004022,AF008552,AF015254,AK297976,AK314889,AY677083,BC000442,BC009751,BC013300,BC080581,BT019534,CR591471,CR600836,CR603941,CR604968,CR605805,CR617702,AB519677,AB519678,AB519679 NP_004208,EAW90073,EAW90074,EAW90075,EAW90076,EAW90077,EAW90078,EAW90079,BAA82709,BAA32136,AAB65786,AAC12709,AAC98891,BAG60286,BAG37403,AAH00442,AAH09751,AAH13300,AAH80581,AAV38341,Q96GD4,BAI23190,BAI23191,BAI23192 Hs.442658 AIK2|AIM-1|AIM1|ARK2|AurB|IPL1|STK12|STK5|aurkb-sv1|aurkb-sv2 ARK-2|STK-1|aurora kinase B-Sv1|aurora kinase B-Sv2|aurora- and Ipl1-like midbody-associated protein 1|aurora-1|aurora-B|aurora-related kinase 2|aurora/IPL1-related kinase 2|serine/threonine kinase 12|serine/threonine-protein kinase 12|serine/threonine-protein kinase aurora-B protein-coding 1351049 AURKBPS1 aurora kinase B pseudogene 1 359937 1343852 AURKC aurora kinase C This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 10066797,19147683,18309533,17637569,17435757,16258285,15938719,15917996,15670791,15499654,15316025,14602875,19649632,19713763,20508983,14671302,12884918,12477932,9809744,9799611,15057824,20629650 6795 NM_003160,NM_001015879,NM_001015878,NG_012134,AC005261,AY421575,CH471135,AB017332,AF054621,AF059681,AY661554,AY714054,BC075064,BX092186 NP_003151,NP_001015878,NP_001015879,EAW72485,EAW72486,BAA76292,AAC25955,AAC77369,AAT64422,AAU04399,AAH75064,Q5Y191,Q6DLZ0,Q9UQB9 Hs.98338 AIE2|AIK3|ARK3|AurC|STK13|aurora-C ARK-3|aurora-related kinase 3|aurora/IPL1-related kinase 3|aurora/IPL1/EG2 protein 2|serine/threonine kinase 13 (aurora/IPL1-like)|serine/threonine-protein kinase 13|serine/threonine-protein kinase aurora-C protein-coding 1350656 AUTS1 autism susceptibility 1 9546821 8311 1320604 AUTS2 autism susceptibility candidate 2 1580863 18029348,19240061,19086053,12853948,12690205,12601173,12477932,12168954,12160723,9455477,8889548,19546859,19567891,20379614,20398908,19913121,20628086,20635338 26053 NM_001127231,NM_001127232,AC004773,AC004881,AC004927,AC006012,AC006317,AC006318,AC006319,AC006361,AC073148,AC073873,AC093487,AC093679,AC093685,CH236952,CH471140,AB007902,AF326917,AK025298,AK296981,AY211931,BC011643,BC064693,BU608023,NM_015570,HI574242 Q8WXX7,NP_056385,NP_001120703,NP_001120704,AAS02044,AAS00369,AAS00371,AAS07468,AAS07486,AAS07446,EAL23968,EAX07895,EAX07896,BAA23714,AAL37411,BAG59522,AAO65184,AAH11643,AAH64693,Q6PJU5,Q75L26,Q75MD7,Q75MQ3,Q75MQ4,Q75MQ7,CBX47610 Hs.712991,Hs.21631 FBRSL2|KIAA0442|MGC13140 autism susceptibility gene 2 protein|autism-related protein 1 protein-coding 1320536 AVEN apoptosis, caspase activation inhibitor 1580863 19913121,20602615,20628086,10949025,19096130,18996102,18571408,18303113,16388850,15761153,15489334,15345747,12477932,20379614,20800603 57099 NM_020371,CR619789,AC009268,AC010809,AC069045,CH471125,AF283508,AK025888,BC010488,BC063533,BU855198,CR618548 NP_065104,EAW92281,AAF91470,AAH10488,AAH63533,Q9NQS1 Hs.555966 PDCD12 cell death regulator Aven|programmed cell death 12 protein-coding 731808 AVIL advillin The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq] 1580863 9664034,18022635,15096633,14702039,12477932,12034507,11287316 10677 NM_006576,AC025165,CH471054,AF041449,AK022448,AK314362,BC111730,BX647344 NP_006567,EAW97079,EAW97080,AAC25051,BAG36994,AAI11731,O75366 Hs.584854,Hs.725404 ADVIL|DKFZp779O1812|DOC6|FLJ12386|MGC133244|p92 advillin|pervin protein-coding 1604629 AVL9 AVL9 homolog (S. cerevisiase) 17229886,14702039,12690205,12477932,9039502 23080 NM_015060,AACC02000087,AC018633,AC018641,CH471073,AK090619,AL833560,BC027724,D87682 NP_055875,EAL24439,EAW93992,EAW93993,EAW93994,EAW93995,EAW93996,EAW93997,BAC03489,CAH10387,AAH27724,BAA13435,Q8N6Z3,Q8NBF6 Hs.128056 DKFZp686G0344|KIAA0241 OTTHUMP00000202740|OTTHUMP00000202741|late secretory pathway protein AVL9 homolog protein-coding 68968 AVP arginine vasopressin This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin II and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin II, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). [provided by RefSeq] 1601303,1601304,1601305,1358326,2301917,2301918,2301919,2301924,2304139,2301922,1579891,2303174,1579880,734624,1579871,1601243,1580863,2312656 20508186,19945299,20144509,1740104,8794883,19114902,19086053,18807739,18673414,18494865,18384079,18316776,18272843,18256370,18172431,18092379,17927668,16333859,15624761,15538939,15489334,15356057,15203290,15070970,14996841,14673472,14660745,14607844,14510916,13591312,12931042,12590641,12566732,12519420,12477932,12403649,12364435,12359138,12107248,12012274,11980620,11857925,11836335,11780052,11748489,11713645,11443218,11384615,11161827,11150885,11017955,10677561,10487710,10443701,10369876,9814475,9580132,9467595,9360520,8989232,8945633,8626836,8554046,8550751,8514868,8370682,8106369,8103767,8045958,7929452,7921229,7714110,7271787,6574452,6153132,4065330,3768139,3390991,2991279,2874053,2521920,1978246,1968469,1840604,14579113,16971491,20620528,18240029,18538351,18995178,19129716,19260089,19337789,19366852,19500216,19564455,19638944,19672816,19821843,19825939,19847155,19897608,20010879,20368512,20439785,20468064,20413521,12036966 1601303,1601304,1601305,1358326,2301917,2301918,2301919,2301924,2304139,2301922,1579891,2303174,1579880,734624,1579871,1601243,2312656 551 NG_008663,AL160414,CH471133,M11166,M63733,M63734,X62890,X62891,AF031475,AF031476,AI478178,BC018062,BC126196,BC126224,NM_000490,BG715518,M25647,X03172 NP_000481,CAC10205,EAX10554,AAA98772,AAA69844,CAA44681,CAA44682,AAB86628,AAB86629,AAI26197,AAI26225,AAA61291,CAA26935,P01185,Q9UEW6,Q9UMM9 Hs.89648 ADH|ARVP|AVP-NPII|AVRP|VP antidiuretic hormone|arginine vasopressin|arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)|neurohypophyseal|vasopressin-neurophysin 2-copeptin|vasopressin-neurophysin II-copeptin protein-coding 1353971 AVPI1 arginine vasopressin-induced 1 15498874,15489334,15164054,12477932,12356727,9373149,9110174,8619474,8125298,16385451,20098747 60370 NM_021732,AL355315,CH471066,AF131791,AF218019,AF241786,AK024533,AK222493,AK223099,BC000877,CR591038,CR595926,CR596172,CR608629,CR614805 NP_068378,CAI15464,EAW49904,EAW49905,AAG17261,AAG44474,BAD96213,BAD96819,AAH00877,Q5T686,ABM82691,ABM85875 Hs.23918 PP5395|RP11-548K23.7|VIP32|VIT32 AVP-induced protein 1|arginine vasopressin-induced protein 1|vasopressin-induced transcript protein-coding 68986 AVPR1A arginine vasopressin receptor 1A The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq] 1358326,2300375,2300333,2300334,2300323,2300348,2300322,2300376,2300319,2300330,2300372,2300337,2300338,734625,1579891,1580863 16754659,15098001,14757828,14622255,12869559,12477932,12436935,12082568,10756113,10478574,10477084,9581826,9357056,8344200,8074728,8012384,10858434,8106369,8838314,19461995,19195791,19086053,19056558,18765804,18655900,18490926,18384079,17939166,17728669,17696996,17653244,17440932,16721832,16565083,16520824,16333859,16205790,15994199,15489334,20413116,18240029,19350216,19598235,19874574,20142561,20368512,20452058,20468064,20546835,19913121,20628086 1358326,2300375,2300333,2300334,2300323,2300348,2300322,2300376,2300319,2300330,2300372,2300337,2300338,734625,1579891 552 NM_000706,AC135584,AF208541,CH471054,DQ177277,U19906,Z59305,AF030625,AF101725,AY322550,BC074803,BC074804,L25615,S73899 NP_000697,AAF18470,EAW97115,ABA02557,AAB19232,AAC51861,AAD17891,AAP84363,AAH74803,AAH74804,AAA62271,AAC60638,Q3S2J4,Q9UH72,P37288 Hs.2131 AVPR1 AVPR V1a|SCCL vasopressin subtype 1a receptor|V1-vascular vasopressin receptor AVPR1A|V1a vasopressin receptor|V1aR|antidiuretic hormone receptor 1A|vascular/hepatic-type arginine vasopressin receptor|vasopressin V1a receptor protein-coding 619562 AVPR1B arginine vasopressin receptor 1B The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq] 61542,1579891,1580863,1300290,2312649 10858434,7805841,7929452,18384079,17909131,17318384,16710414,15528211,15094789,12736162,12436935,11884209,10607899,10477084,9581826,9357056,8636444,8586456,16754659,18240029,19598235,19668115,19874574,20351714,20368512,20472303,18577758 61542,1579891,1300290,2312649 553 NM_000707,AF152238,BX571818,CH471067,DQ194816,AF030512,AF101726,D31833,DY317849,EU432111,L37112 NP_000698,AAF33681,CAH73262,EAW91596,EAW91597,ABA03171,AAB84293,AAD17892,BAA06621,ABY87910,AAA65687,P47901,AAI56079,AAI57127 Hs.1372 AVPR3 AVPR V1b|AVPR V3|V1bR|antidiuretic hormone receptor 1B|arginine vasopressin receptor 3|pituitary vasopressin receptor 3|vasopressin V1b receptor|vasopressin V3 receptor protein-coding 730975 AVPR2 arginine vasopressin receptor 2 This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq] 628560,2314013,2314015,2314019,2314016,2314017,2314018,2312654,1579891,1580863,734626,1298694,2312656 10858434,18578504,8882880,10880054,9224808,1303257,20389105,10749568,19449677,19440390,19179480,19094077,19086053,18753429,18726898,18358546,18323675,18288441,18199683,17941907,17626156,17550212,17389737,17229917,17216256,17101063,17020465,16845277,16825342,16580609,16563128,16333859,16267275,16240160,16162341,16115624,15872203,15489334,15452133,15319442,15319430,14757828,12960162,12900404,12482593,12477932,12473660,12436935,12409230,11923476,11916004,11868598,11857925,11754100,11476731,11232028,11026555,10770218,10694923,10561596,10477084,9711877,9581826,9402087,8999963,8735975,8621513,8514744,8479490,8267567,8078903,8045948,8037205,7999078,7987330,7984150,7833930,7560098,2714800,1534150,1534149,1415251,1356229,1324225,1303271,15782186,20403097,18240029,19170711,19542240,19638944,19703807,19812297,19996159,20159941,20237496,19913121,20628086,12036966 628560,2314013,2314015,2314019,2314016,2314017,2314018,2312654,1579891,734626,1298694,2312656 554 NM_000054,NG_008687,NM_001146151,NR_027419,CH471172,FJ411207,L22206,U04357,U52112,AF030626,AF032388,AF101727,AF101728,AY242131,BC015746,BC033090,BC041642,BC080603,BC101484,BC112181,BG830436,Z11687 NP_000045,NP_001139623,EAW72783,EAW72784,EAW72785,ACR39021,AAA03651,AAC09005,AAB86428,AAB87678,AAD16444,AAD16445,AAO92298,AAI01485,AAI12182,CAA77746,P30518 Hs.567240 ADHR|DI1|DIR|DIR3|MGC126533|MGC138386|NDI|V2R AVPR V2|OTTHUMP00000026011|OTTHUMP00000198719|antidiuretic hormone receptor|renal-type arginine vasopressin receptor|vasopressin V2 receptor protein-coding 1349822 AVSD1 atrioventricular septal defect 1 9002679 7446 1346796 AWAT1 acyl-CoA wax alcohol acyltransferase 1 15772651,15671038,14970677,12477932 158833 NM_001013579,AL357752,CH471132,AY947638,BC039181,BN000155,CR620112,W68831,NG_013225 NP_001013597,CAI41493,EAX05353,AAX48018,CAD89266,Q58HT5,AAI46429,AAI53035 Hs.407641 DGA2|DGAT2L3 acyl-CoA wax alcohol acyltransferase 1|diacyl-glycerol acyltransferase 2|diacylglycerol O-acyltransferase 2-like 3|diacylglycerol O-acyltransferase 2-like protein 3|diacylglycerol acyltransferase 2|long-chain-alcohol O-fatty-acyltransferase 1 protein-coding 1606441 AWAT2 acyl-CoA wax alcohol acyltransferase 2 16106050,15671038,15489334,15220349,14970677,12477932,20374941 158835 NM_001002254,AL158141,CH471132,AY605053,BC063698,BN000156,NG_021246 NP_001002254,EAX05358,AAT68764,AAH63698,CAD89267,Q6E213,AAI46453,AAI53071 Hs.661507 DC4|DGAT2L4|MFAT|WS OTTHUMP00000217280|acyl-CoA wax alcohol acyltransferase 2|diacylglycerol O-acyltransferase 2-like protein 4|diacylglycerol O-acyltransferase candidate 4|long-chain-alcohol O-fatty-acyltransferase 2|multifunctional O-acyltransferase protein-coding 736564 AXIN1 axin 1 This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin (cadherin-associated protein), beta 1, 88kDa, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 2293188,1300371,1580863 18593713,10644691,9230313,9482734,16188939,12072559,11955436,12000790,12820959,15327769,16753179,19331826,19141611,19131971,18708403,18632848,18330950,18171349,17768662,17720811,17418091,17143297,17018282,16868183,16773576,16772034,16601693,16293619,16169070,16163548,15981102,15698401,15616553,15579909,15526030,15520370,15489334,15355978,15262978,15064706,15063782,14970870,14630927,14566817,14534723,12897152,12883680,12805222,12771989,12717450,12556519,12555076,9601641,12554650,12477932,12223491,12209999,12192039,12138115,12101426,12036951,11997515,11884395,11809808,11719457,11557983,11487578,11438668,11336703,11297546,11157797,10829020,10811618,10700176,10698523,10581160,10488109,10330403,10228155,9920888,9734785,9335612,9054936,10428961,12511557,17353931,16199882,17210684,20844743,16890161,20846493,17318175,17510365,17588722,18514389,19249679,19303846,19390532,19453261,19513548,19582507,19633924,19731416,19778269,20098615,20122174,20128690,20379614,17569865,19913121,20628086 2293188,1300371 8312 NM_003502,NG_012267,AC004652,AC005202,AE006463,CH471112,Z69667,Z99754,AB208876,AF009674,BC017447,BC035872,BC044648,CR599188,DB460285,NM_181050,BX648449 NP_851393,NP_003493,AAK61224,EAW85835,EAW85836,CAI95589,CAI95590,CAQ09649,CAI95600,CAI95601,BAD92113,AAC51624,AAH17447,AAH44648,O15169,Q59H83 Hs.592082 AXIN|MGC52315 axin-1|axis inhibition protein 1|axis inhibitor 1|fused, mouse, homolog of|gsk-3beta interacting protein raxin|hAxin protein-coding 1349667 AXIN2 axin 2 The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq] 2293188,1643593,1580863 16941501,16820935,16601693,16432638,16344560,16247484,15766563,10049590,12072559,19270026,19119171,19065536,18755497,18708403,18683894,18676680,18384130,18372914,18330950,17373666,17143297,17072303,17002498,15489334,15042511,12477932,12183362,11940574,11474173,11017067,10966653,10647780,8889548,10021369,15304487,15611123,20300119,19336002,20844743,21069480,20613673,20635389,11438668,17927870,18790474,19170196,19584075,19623616,19625176,19692168,19816326,19888426,20056645,20219685,20403997,20453000,20508983,9566905 2293188,1643593 8313 NM_004655,NG_012142,AC115994,CH471099,AB052751,AF078165,AF205888,AK025718,AK315303,BC006295,BC101533,BC143244,BE670767,CB306601,CR933657,CX756263,CX759580,DA785881,DA839648 NP_004646,EAW89003,EAW89004,EAW89005,EAW89006,BAB19762,AAD20976,AAF22799,AAH06295,AAI01534,AAI43245,CAI45956,Q5H9R8,Q9BRF5,Q9Y2T1 Hs.156527 AXIL|DKFZp781B0869|MGC10366|MGC126582 axin-2|axin-like protein|axis inhibition protein 2|conductin protein-coding 1323764 AXL AXL receptor tyrosine kinase The protein encoded by this gene is a member of the receptor tyrosine kinase subfamily. Although it is similar to other receptor tyrosine kinases, this protein represents a unique structure of the extracellular region that juxtaposes IgL and FNIII repeats. It transduces signals from the extracellular matrix into the cytoplasm by binding growth factors like vitamin K-dependent protein growth-arrest-specific gene 6. It is involved in the stimulation of cell proliferation and can also mediate cell aggregation by homophilic binding. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1579938,1580863,1579881,1579882,2325834,2325833 12470648,1656220,19541935,19055724,18840707,18673450,18620092,18522535,18345028,18172262,17255529,17005688,16831897,16641895,16585512,16556867,16362042,16354588,16344560,16308569,16227584,15964779,15958209,15733062,15605394,15507525,15130893,14750094,14729616,14565870,12826617,12768229,12490074,12477932,20088931,20637106,21047970,12364394,12029073,11290560,9492013,9178760,9130617,8621659,8610109,8381225,8247543,7822279,7521695,2247464,1834974,1729376,8939948,20603615,19567592,19633687,19815557,19888345,20080645,20145042,20417630,19913121,20628086,20664904,20442363 1579938,1579881,1579882,2325834,2325833 558 NM_021913,NM_001699,AC011510,CH471126,X66030,AK309139,AK310881,AL556721,BC032229,DA478638,M76125,S65125,X57019,X66029,HI464132,HI464134 NP_068713,NP_001690,EAW57022,EAW57023,CAA46829,AAH32229,AAA61243,AAB20305,CAA40338,P30530,Q15839,ABM85043,CBX54237,CBX54238 Hs.590970 JTK11|UFO AXL oncogene|AXL transforming sequence/gene|oncogene AXL|tyrosine-protein kinase receptor UFO protein-coding 1345749 AXPC1 ataxia, posterior column 1, with retinitis pigmentosa 9409377,9921862 559 1343191 AZF1 azoospermia factor 1 560 1342951 AZF2 azoospermia factor 2 561 735517 AZGP1 alpha-2-glycoprotein 1, zinc-binding 20581862,10206894,6896906,10462714,9813179,14718574,19188554,18978557,18930737,18663996,18567794,17724461,16740002,16598739,16475792,16335952,15620688,15477100,15340161,15084671,14983038,14760718,13689030,12853948,12690205,12477932,11425849,10737800,10594376,9328826,9239523,9114041,8889548,8307568,8241150,3422450,2049092,1918940,1915885,19549246,19351730,19615732,19622624,19846741,19934249,20070991,16712791,20595026,20683033 563 BC005306,BC005908,BC014470,BC033830,BM796305,CB305376,D90427,M76707,X59766,NM_001185,AC004522,CH236956,CH471091,D14034,X69953,AA583051,AI678968,AW015837,CB148270 AAH05306,AAH05908,AAH33830,BAA14417,AAA61311,CAA42438,P25311,NP_001176,EAL23862,EAW76621,EAW76622,EAW76623,BAA03123,CAA49574 Hs.546239 ZA2G|ZAG Alpha-2-glycoprotein, zinc|OTTHUMP00000210306|Zn-alpha2-glycoprotein|alpha-2-glycoprotein 1, zinc|zinc-alpha-2-glycoprotein|zn-alpha-2-GP|zn-alpha-2-glycoprotein protein-coding 1345717 AZGP1P1 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 12477932,10737800,8307568,8241150 646282 AC004522,CH236956,X70169,X70170,X70171,X70172,AK307369,NR_036679 Hs.721816 pseudo 1350566 AZGP1P2 alpha-2-glycoprotein 1, zinc-binding pseudogene 2 12853948,12477932,8307568,8241150 401393 NG_008494,AC006329 pseudo 1346806 AZI1 5-azacytidine induced 1 1580863 18029348,14654843,17081983,16964243,15489334,12477932,10470851,9070930,8889548,8529672,12359729,11076968,12221128,12852856,16462731,7790358 22994 BC011615,BC012130,BC040023,BC136578,BC136580,BC144263,BE732160,BE734213,BG773915,BU742835,BX394713,NM_001009811,NM_014984,AC027601,CH471099,AB029041,AI955901,BC010413 AAH11615,AAI36579,AAI36581,Q9UPN4,NP_001009811,NP_055799,EAW89631,EAW89632,BAA83070 Hs.514578 AZ1|Cep131|ZA1 5-azacytidine-induced protein 1|centrosomal protein 131 kDa|centrosomal protein of 131 kDa|pre-acrosome localization protein 1 protein-coding 1605352 AZI2 5-azacytidine induced 2 AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM] 17982077,17142768,16344560,15611223,15489334,14743216,14702039,14560022,12477932,10580148,8889548,12359729,18029348 64343 NM_001134432,NM_001134433,AC098616,AF044917,AF044918,CH471055,CS185540,AK025592,AK290637,AY151386,NM_022461,BC001853,BG777644,BM982133,BX327318,BX386357,BX648471,CB995808,CF528511,CR598106,CR613279,CR614680,CR618873,CR623051,DA485515,BC001139 NP_071906,NP_001127904,NP_001127905,AAF22368,AAF22369,EAW64392,EAW64393,EAW64394,EAW64395,EAW64396,EAW64397,EAW64398,CAJ42721,BAB15182,BAF83326,AAO05967,Q9H6S1 Hs.706676 AZ2|NAP1|TILP 5-azacytidine induced gene 2|5-azacytidine-induced protein 2|NAK-associated protein 1|NF-kappa-B-activating kinase-associated protein 1|OTTHUMP00000208433|OTTHUMP00000208434 protein-coding 731863 AZIN1 antizyme inhibitor 1 Ornithine decarboxylase (ODC) catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. Ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. The protein encoded by this gene is highly similar to ODC. It binds to ODC antizyme and stabilizes ODC, thus inhibiting antizyme-mediated ODC degradation. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 633333,1580863 9349715,17353931,15489334,14702039,12878157,12477932,10623564,9110174,8619474,14499622,20215859 633333 51582 NM_148174,NM_015878,AP003354,AP003356,AP003696,CH471060,AF070634,AK095493,AK290516,AU280209,BC013420,BC019279,BC042404,BT006858,CR456745,CR613500,D88674 NP_680479,NP_056962,EAW91851,EAW91852,EAW91853,AAC25391,BAG53068,BAF83205,AAH13420,AAH19279,AAP35504,CAG33026,BAA23593,O14977,ABM81650,ABM83131,ABM83132,ABM86326 Hs.459106 MGC3832|MGC691|OAZI|OAZIN|ODC1L AZI|antizyme inhibitor 1|ornithine decarboxylase 1-like|ornithine decarboxylase antizyme inhibitor protein-coding 1345072 AZU1 azurocidin 1 Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antibacterial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq] 1580863 11994286,10534120,12465046,10510329,11861296,12678126,1919011,12826073,19151333,18346022,15879141,15489334,15304323,15057824,15020208,14515154,12477932,12438368,12351811,12135665,12054586,11980855,11891183,11170199,10572086,9761855,9095193,8621683,8506327,2501794,2406527,2404977,2332502,2312733,2226832,2049091,2026172,1897955,1755383,1518849,17207965,20399025,18787642,19590686,20056178,20107486 566 NM_001700,AC004799,CH471139,M96326,BC044940,BC069495,BC093931,BC093933,X58794 NP_001691,EAW69592,AAB59353,AAH44940,AAH69495,AAH93931,AAH93933,CAA41601,P20160,Q86SR2,ADQ32951 Hs.72885 AZAMP|AZU|CAP37|HBP|HUMAZUR|NAZC azurocidin|cationic antimicrobial protein 37|cationic antimicrobial protein CAP37|heparin-binding protein|neutrophil azurocidin protein-coding 735892 B2M beta-2-microglobulin Beta-2-microglobulin is a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells (Gussow et al., 1987 [PubMed 3312414]).[supplied by OMIM] 2311238,2311237,2311236,2311235,2311239,2311211,2311212,1601306,1599429,1601309 14764708,12118248,18029348,15569716,11513152,15304001,19284997,19265139,19232323,19140844,19136889,19059216,19017634,19010783,18841160,18835879,18835253,18801425,18765525,18753422,18713542,18708068,18704411,18695889,18568448,18506145,18424782,18393655,18342332,18257814,18245532,18215070,18211100,18164932,18046451,18036353,18024396,18022010,17929129,17852800,17766066,17693474,17681531,17646174,17641012,17597407,17543888,17499801,17498802,17373663,17348447,17244347,17108084,16919295,16901902,16891806,16846219,16841247,16740750,2450918,2413854,2289831,2038058,1737380,1448153,1390678,19829086,17618570,20831744,12480693,12477932,12471623,12464008,12454016,12192077,12119416,12085191,12023961,12006623,11967567,11967566,11943769,11914379,11894933,11877296,11849381,11847272,11801591,11738047,11676539,11502003,11257307,11169396,10948205,10933786,10791995,10731476,10515878,10221650,10199391,10064069,9751712,9714695,9605335,9545232,9228302,9110174,8769474,8624812,8619474,8432869,8076819,7862664,7554280,6171820,4586824,3312414,3309677,3060434,3048575,2674742,16704420,16601119,16549777,16518752,16511243,16509252,16491092,16475820,16403526,16375919,16331970,16322574,16126222,16122756,16108498,16098535,16053447,16046408,16024039,15766269,15667222,15623356,15616564,15610257,15498554,15494406,15489334,15249659,15194307,15185972,14699107,14698299,14681859,12968074,12958308,12911560,12897781,12860118,12860117,12850147,12833155,12818210,12738401,12531797,12516095,12488093,12480959,93026,16169070,20558175,12415263,18088490,18674763,19148137,19393661,19410618,19483161,19518133,19596084,19728333,19754160,19824733,19874554,20028983,20071336,20088607,20089652,20186038,20237496,20335170,20351246,20372847,20444690,20662519,19913121,20587875,20628086 2311238,2311237,2311236,2311235,2311239,2311211,2311212,1601306,1599429,1601309 567 AC025270,AC122108,CH471082,DQ217933,M17987,AB021288,AF072097,AI686916,AK026463,AK303560,AK315776,AY007153,AY187687,BC032589,BC064910,BU658737,CR457066,CR590254,CR591572,CR592576,CR592679,CR593405,CR593761,CR593874,CR594444,CR596238,CR596347,CR596444,CR596717,CR597808,CR599099,CR599510,CR599875,CR603043,CR603887,CR604110,CR604555,CR604705,CR604949,CR605353,CR606667,CR607236,CR608139,CR608197,CR610094,CR610959,CR612132,CR612519,CR613616,CR613782,CR613955,CR614402,CR614556,CR615574,CR615578,CR615729,CR616171,CR616437,CR618556,CR619071,CR619828,CR620994,CR621079,NM_004048,CR623073,CR624595,CR625152,CR626821,DQ839493,DQ884406,S54761,S82297,S82300,V00567,X07621,NG_012920,HH794631 NP_004039,EAW77276,EAW77277,EAW77278,ABB01003,AAA51811,BAA35182,AAD48083,BAG64583,BAG38125,AAG02006,AAO20842,AAH32589,AAH64910,CAG33347,ABI63354,ABI63373,AAB25312,AAD14387,AAD14388,CAA23830,P61769,Q16446,Q9UM88,ABM92168,ABM84637,CBX87172 Hs.534255,Hs.702947 beta chain of MHC class I molecules|beta-2 microglobulin|beta-2-microglobin|beta-2-microglobulin protein-coding 1352190 B2MR beta-2-microglobulin regulator 7061176 568 1312449 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq] 9582303,16344560,15489334,15142124,14702039,12975309,12477932,12023287,10993897,10580128,9405390,9373149,8125298,6425294,2829950,2649653,2542563,2541446,2187500,18839200,19264528,17207965 8706 NM_033168,NM_003781,NM_033167,NM_001038628,NM_033169,NG_007854,AC021649,AF494103,AF494104,AF494105,AF494106,AY505344,AY505345,AY505346,AY505347,CH471052,DQ158095,AB050855,AB050856,AB060691,AF132731,AF154848,AI093705,AI214215,AK095917,AK223439,AW151434,AY359049,BC028571,BC047618,CR457170,DA188324,DB172381,Y15062,AK022491 NP_149358,NP_003772,NP_149357,NP_001033717,NP_149359,AAM96009,AAM96010,AAM96011,AAM96012,AAS79228,AAS79229,AAS79230,AAS79231,EAW78621,EAW78622,EAW78623,EAW78624,EAW78625,AAZ67917,BAB17690,BAB17691,BAB91079,AAF66442,AAF72106,BAB14055,BAG53166,BAD97159,AAQ89408,AAH28571,AAH47618,CAG33451,CAA75346,O75752,Q49AT3,Q53F50,Q6RBZ9,Q6RC00,Q6RC01,Q6RC02,Q7L9G8,Q8NFM9,Q8NFN0,Q8NHI0,Q8TDY1,ADQ32503 Hs.418062 B3GALT3|GLCT3|GLOB|Gb4Cer|P|P1|beta3Gal-T3|galT3 OTTHUMP00000213978|OTTHUMP00000213979|OTTHUMP00000213980|OTTHUMP00000213981|OTTHUMP00000213983|OTTHUMP00000213984|P antigen synthase|P blood group globoside|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)|UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1|UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)|UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase|b3Gal-T3|beta-1,3-GalNAc-T1|beta-1,3-GalTase 3|beta-1,3-galactosyltransferase 3|beta-3-Gx-T3|beta3GalT3|brainiac1|galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase|globoside synthase|globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|udp-gal:betaglcnac beta 1,3-galactosyltransferase, polypeptide 3 protein-coding 1345395 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 16710414,15489334,14724282,14702039,12477932 148789 NM_152490,AL135928,AL672237,CH471098,AB209046,AK091497,AK130297,AK311626,BC016974,BC029564,BQ221255 NP_689703,CAI21727,CAI21728,EAW70026,EAW70027,EAW70028,BAD92283,AAH16974,AAH29564,Q8NCR0 Hs.498143 B3GalNAc-T2|MGC39558 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2|UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2|UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2|beta 1,3-N-acetylgalactosaminyltransferase-II (MGC39558)|beta-1,3-GalNAc-T2|beta-1,3-N-acetylgalactosaminyltransferase II|beta-1,3-galactosaminyltransferase 2 protein-coding 1323596 B3GALT1 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq] 1580863 15815621,15489334,12477932,10580128,10356986,9582303,9417100,2829950,2649653,2542563,2541446,2187500,12925779 8708 NM_020981,AB041407,AC016723,CH471058,AF117222,BC101545,BC104813,E07739 NP_066191,BAA94492,AAY15002,EAX11306,EAX11307,AAD23451,AAI01546,AAI04814,Q9Y5Z6 Hs.657258 MGC126594|beta3Gal-T1 UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1|beta-1,3-GalTase 1|beta-1,3-galactosyltransferase 1|beta-3-galt1|beta3GalT1 protein-coding 1347261 B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq] 1580863 9417100,16710414,16344560,15489334,12477932,11318611,10580128,9582303,2829950,2649653,2542563,2541446,2187500,17207965 8707 NM_003783,AL390863,CH471067,CS265714,AF288390,AK314116,BC022507,DA116294,Y15060 NP_003774,CAH71590,EAW91251,CAJ78385,AAG60610,BAG36808,AAH22507,CAA75344,O43825,ADQ32440 Hs.518834 BETA3GALT2|GLCT2|beta3Gal-T2 UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2|beta-1,3-GalTase 2|beta-1,3-galactosyltransferase 2|beta-3-galt2 protein-coding 1343637 B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq] 1580863 9582303,19225246,18193043,16303743,15489334,14574404,12477932,10663566,10580128,8889548,2829950,2649653,2542563,2541446,2187500,16169070,19851445 8705 NM_003782,AB022537,AL031228,AL662820,AL662827,AL844527,CH471081,CR759786,CR759817,AB026730,AF063595,AK075312,AK315647,BC032574,BU740293,CR457093,CR619620,Y15061,FJ525877 NP_003773,CAA20230,CAI18111,CAI17515,CAI41849,EAX03700,CAQ08252,CAQ08022,BAA88988,AAG43154,BAG52107,BAG38014,AAH32574,CAG33374,CAA75345,O96024,Q5STJ7,Q9H3I9,ABW03644,ABW03296,ACN81315 Hs.534375 BETA3GALT4|GALT2|GALT4 UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase|b3Gal-T4|beta-1,3-GalTase 4|beta-1,3-galactosyltransferase 4|beta-3-galactosyltransferase 4|gal-T2|ganglioside galactosyltransferase protein-coding 1315510 B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes the most probable candidate for synthesis of the type 1 Lewis antigens which are frequently found to be elevated in gastrointestinal and pancreatic cancers. The encoded protein is inactive with N-linked glycoproteins and functions in mucin glycosylation. Five transcript variants have been described which differ in the 5' UTR. All transcript variants encode an identical protein. [provided by RefSeq] 1580863,2317558 10212226,16780588,19225246,17107959,16112824,15489334,15263012,14534330,12477932,10830953,10580128,10406968,2829950,2649653,2542563,2541446,2187500,19136585,19567891 2317558 10317 NM_033171,NM_033172,NM_033173,NM_006057,NM_033170,AB041413,AB041416,AF064860,AF145784,AJ006078,AL163280,CH471079,AB020337,AK292951,AY372061,BC104862,BC104864 NP_149361,NP_149362,NP_149363,NP_006048,NP_149360,BAA94498,BAA94501,AAF07880,CAB91547,CAB90446,EAX09628,EAX09629,EAX09630,EAX09631,EAX09632,BAA77664,BAF85640,AAR08910,AAI04863,AAI04865,Q9Y2C3 Hs.655094 B3GalT-V|B3GalTx|B3T5|GLCT5|beta3Gal-T5 GlcNAc-beta-1,3-galactosyltransferase 5|OTTHUMP00000109186|UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5|b3Gal-T5|beta-1,3-GalTase 5|beta-1,3-galactosyltransferase 5|beta-3-Gx-T5|beta3GalT5|homolog of C. elegans Bt toxin resistance gene bre-5 protein-coding 1319963 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1580863 11551958,16710414,12477932,9892646,19913121,20628086 126792 NM_080605,AL162741,CH471183,BC015549,BC041621,BC051719,BE249959,BF002665,BG290330 NP_542172,CAI23255,EAW56269,AAH51719,Q499Z2,Q96L58,AAI60034 Hs.284284 beta3GalT6 GAG GalTII|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6|beta-1,3-GalTase 6|beta-1,3-galactosyltransferase 6|beta3Gal-T6|galactosyltransferase II|galactosylxylosylprotein 3-beta-galactosyltransferase protein-coding 1604745 B3GALTL beta 1,3-galactosyltransferase-like The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS). 18798333,18199743,17032646,16909395,16899492,16344560,15489334,15057823,14702039,12943678,21067481,12477932,19796186,20379614 145173 NM_194318,NG_011732,AL137142,AL138965,CH471075,AA769548,AB101481,AK094979,AK291273,AV728071,AY190526,BC031597,BC032021,BC047395,BC068595,BX647932,DA290408,DN999521 NP_919299,CAI12432,CAH73049,EAX08483,BAD13528,BAF83962,AAO37647,AAH68595,Q6Y288 Hs.13205 B3GLCT|B3GTL|B3Glc-T|Gal-T|beta3Glc-T UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like|beta 3-glycosyltransferase-like|beta-1,3-glucosyltransferase|beta-3-glycosyltransferase-like protein-coding 733365 B3GAT1 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 10783264,19343046,18802400,18383036,18201430,17567734,17035093,16807373,16257185,15879103,15626024,14993226,12883721,12874601,12687271,12477932,12433688,11986319,11788581,10946001,10526176,9110174,8619474,20696944,20733159,20229169,19564339,20950796 27087 NM_054025,NM_018644,AP003971,AB029396,AF131769,AK299637,AL834455,BC010466,CR457098 NP_473366,NP_061114,BAA96077,BAH13084,CAD39115,AAH10466,CAG33379,Q8ND18,Q9P2W7,ABM84250,ABM86204,ABM87639 Hs.381050 CD57|GLCATP|GLCUATP|HNK1|LEU7|NK-1|NK1 LEU7 antigen|UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1|glcUAT-P|glucuronosyltransferase P protein-coding 1348026 B3GAT2 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq] 1580863 16897771,16344560,15470230,15039073,14702039,14574404,12522689,12477932,11853319,20950796,19913121,20628086 135152 NM_080742,AL121961,AL450320,AY070110,CH471051,AB075843,AK055248,AK290018,AY070019,BC101163,BC101165,BC113995,DA782678 NP_542780,CAI42145,CAI39582,AAL58977,EAW48804,BAB85549,BAB70889,BAF82707,AAL57718,AAI13996,Q29RV3,Q9NPZ5 Hs.713609 GLCATS|KIAA1963|MGC138535 UDP-glucuronosyltransferase S|UDP-glucuronyltransferase S|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2|glcAT-D|glucuronosyltransferase S|uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase protein-coding 1323698 B3GAT3 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. [provided by RefSeq] 1580863 17207965,10842173,18400750,17567734,15601778,15522873,15489334,12794088,12477932,11535117,10946001,10526176,9927678,9506957 26229 AK310200,AK316228,BC007906,BC011173,BC019832,BC071961,CR591171,CR592820,CR593367,CR596079,CR598262,CR598436,CR608174,CR609724,CR622950,CR625454,NM_012200,AP001458,CH471076,AB009598,AJ005865,AK075166,AK297970 ADQ32307,BAH14599,AAH07906,AAH19832,AAH71961,O94766,Q5U676,NP_036332,EAW74042,EAW74043,EAW74044,BAA34537,CAA06742,BAG60280 Hs.502759 GLCATI Sqv-8-like protein|UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3|glcUAT-I|glucuronosyltransferase I protein-coding 2306330 B3GAT3P beta-1,3-glucuronyltransferase 3 pseudogene 11535117 402146 NG_005351,AB049116,AC024221 B3GAT3P|PSIGLCAT-I pseudo 1319932 B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq] 1580863 19587235,19261593,16344560,16303743,15489334,12477932,9405606,9373149,8125298 11041 NM_006876,AP001107,CH471076,DQ066422,AF029893,AK075354,AK098389,AK098779,AK225182,AK293715,AK294604,BC021965,CR591559,CR602074,CR617432,CR623114,DA169103 NP_006867,EAW74517,EAW74518,AAY46155,AAC39538,BAG52119,BAG57146,BAG57791,AAH21965,O43505,ABM83632,ABM86883 Hs.8526,Hs.702361 B3GN-T1|B3GNT6|BETA3GNTI|iGAT|iGNT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6|beta-1,3-N-acetylglucosaminyltransferase bGnT-6|i-beta-1,3-N-acetylglucosaminyltransferase|poly-N-acetyllactosamine extension enzyme|udp-glcnac:betagal beta-1,3-n-acetylglucosaminyltransferase 6 protein-coding 1320774 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. [provided by RefSeq] 1580863 18826941,16335952,15560372,15489334,14759258,14702039,14686931,14555842,12855703,12477932,12464682,11042166,10580128,9892646,17207965,20062062 10678 AC018462,AC093401,CH471053,AB049584,AF092051,AF288208,AF288209,AJ006077,AK002009,BC030579,BC047933,NM_006577 NP_006568,AAX93271,EAW99977,EAW99978,EAW99979,EAW99980,BAB21530,AAD09764,AAF97253,AAF97254,CAB91546,BAA92031,AAH30579,AAH47933,Q54AC1,Q9NY97,ADQ31689 Hs.173203 B3GN-T1|B3GN-T2|B3GNT|B3GNT-2|B3GNT1|BETA3GNT|BGNT2|BGnT-2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2|beta-1,3-Gn-T1|beta-1,3-Gn-T2|beta-1,3-N-acetylglucosaminyltransferase bGnT-1|beta-1,3-N-acetylglucosaminyltransferase bGnT-2|beta3Gn-T1|beta3Gn-T2|udp-glcnac:betagal beta-1,3-n-acetylglucosaminyltransferase 1 protein-coding 1313012 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq] 1580863 17207965,10072769,17827388,16344560,16303743,15489334,12975309,12477932,11439191,11042166,10737800,10580128,9373149,8125298,20424473,21048031 10331 AW848963,AY358955,BC066876,BC067423,CR611299,DA385410,DB104034,NM_014256,AC008761,CH471106,AB015630,AB049585,AF293973,AJ130847,AJ278961,AK075434,AK075466,AK225421,AK225478,AK314323 AAQ89314,AAH66876,AAH67423,Q9Y2A9,ADQ32033,NP_055071,EAW84631,BAA76497,BAB21531,AAK00849,CAC45044,CAC82374,BAG52147,BAG36971 Hs.69009,Hs.657825 B3GAL-T8|B3GN-T3|B3GNT-3|HP10328|TMEM3|beta3Gn-T3 BGnT-3|UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8|beta-1,3-GalTase 8|beta-1,3-Gn-T3|beta-1,3-N-acetylglucosaminyltransferase 3|beta-1,3-N-acetylglucosaminyltransferase bGnT-3|beta-1,3-galactosyltransferase 8|beta-3-Gx-T8|beta3Gal-T8|beta3GalT8|core 1 extending beta-1,3-N-acetylglucosaminyltransferase|core1-beta3GlcNAcT|putative type II membrane protein|transmembrane protein 3 protein-coding 1320043 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. 14702039,12975309,12477932,11042166,10580128,16169070 79369 NM_030765,AC048338,AF321825,CH471054,AB049586,AJ130848,AJ278962,AK095746,AL834452,AY358940,BC030247,BC031399,CR591685 NP_110392,AAL37219,EAW98308,EAW98309,BAB21532,CAC45045,CAC82375,BAC04622,CAD39112,AAQ89299,AAH31399,Q9C0J1,ABM82210,ABM85395 Hs.363315 B3GN-T4|beta3Gn-T4 BGnT-4|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4|beta-1,3-Gn-T4|beta-1,3-N-acetylglucosaminyltransferase 4|beta-1,3-N-acetylglucosaminyltransferase bGn-T4 protein-coding 735674 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq] 70806,1580863 11384981,18483624,15342556,14702039,12477932,11283017,8889548,20734064 70806 84002 NM_032047,AC069417,CH471052,AB045278,AB209517,AF368169,AJ304505,AK074235,AK074424,AK091474,BC028058,BF001695,BP270576,BU684277 NP_114436,EAW78333,EAW78334,EAW78335,EAW78336,BAB40940,BAD92754,AAK53403,CAC83093,BAG52370,AAH28058,Q9BYG0,ABM81996,ABM85178 Hs.718506 B3GN-T5|beta3Gn-T5 BGnT-5|OTTHUMP00000212935|OTTHUMP00000212936|OTTHUMP00000212937|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5|beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase|beta-1,3-Gn-T5|beta-1,3-N-acetylglucosaminyltransferase 5|beta-1,3-N-acetylglucosaminyltransferase bGnT-5|lactotriaosylceramide synthase|lc(3)Cer synthase|lc3 synthase protein-coding 1601928 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 11821425,16344560,15755813,12477932,19395705 192134 NM_138706,AP000752,CH471076,AB073740,AK127544,AK172863,AK292773,AK313682,BC025357,BC103908,BC103909,BC103910,DA437068 NP_619651,EAW75013,BAB88882,BAC87028,BAD18819,BAF85462,BAG36432,AAH25357,AAI03909,AAI03910,AAI03911,Q6ZMB0 Hs.352622 B3Gn-T6|IMAGE:4907098|MGC119334|MGC119336|MGC119337 BGnT-6|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6|beta-1,3-Gn-T6|beta-1,3-N-acetylglucosaminyltransferase 6|beta-1,3-N-acetylglucosaminyltransferase protein|beta3Gn-T6|core 3 synthase protein-coding 1321569 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 1580863 17690104,15815621,14706853,12061784 93010 NM_145236,AK000770,AC017104,CH471063,AF502430,AK126207,CR626252 NP_660279,AAY24246,EAW70958,EAW70959,AAM61770,BAG54296,Q8NFL0,AAI40378,AAI48681 Hs.299329 beta3GnT7 BGnT-7|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7|beta 1,3-N-acetylglucosaminyltransferase 7|beta-1,3-Gn-T7|beta-1,3-N-acetylglucosaminyltransferase 7|beta3Gn-T7 protein-coding 1313364 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 1580863 15620693,18826941,15486459 374907 NM_198540,AC011462,AB175895,AJ419172,AY277592 NP_940942,BAD86525,CAD11601,AAP34405,Q7Z7M8,AAI56489,AAI72521 Hs.441681 B3GALT7|BGALT15|beta3Gn-T8 BGnT-8|UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8|beta galactosyltransferase BGALT15|beta-1,3-Gn-T8|beta-1,3-N-acetylglucosaminyltransferase 8|beta1,3-N-acetylglucosaminyltransferase 8 protein-coding 1603192 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 12975309,12477932,19913121,20628086 84752 NM_033309,AC074143,CH471092,AF171091,AY358485,BC012191,BC022849,BU617330,CF994177,CR613875 NP_171608,EAW83079,AAQ13602,AAQ88849,Q6UX72,Q7Z4F9 Hs.513666 MGC4655 BGnT-9|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9|beta-1,3-Gn-T9|beta-1,3-N-acetylglucosaminyltransferase 9|beta-1,3-galactosyltransferase-related protein|beta3Gn-T9 protein-coding 1603899 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 15560372,14702039,12477932,9110174,8619474,16169070 146712 NM_001009905,AC130371,CH471099,AK054757,AK126018,AY304503,AY634364,BC019623,BC035891,BC041588,BC065543,BC110528,BC110529,U79265 NP_001009905,EAW89825,EAW89827,EAW89830,AAQ74775,AAT47555,AAH19623,AAI10529,AAI10530,Q67FW5 Hs.718480 B3GNT8|MGC126253|MGC126256 BGnT-8|BGnT-like protein 1|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1|beta-1,3-Gn-T8|beta-1,3-N-acetylglucosaminyltransferase 8|beta1,3-N-acetylglucosaminyltransferase-like protein 1|beta3Gn-T-like protein 1|beta3Gn-T8|beta3GnTL1 protein-coding 731293 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. [provided by RefSeq] 1580863,704404 8702839,1601877,19318031,17119850,12477932,11018043,10978536,10477274,8824296,8690719,8120069,19457569 2583 NM_001478,AC025165,CH471054,L76079,AB209460,AK127448,AK289690,AK293432,AK299845,BC029828,CR610248,CR622992,M83651,AK302503 NP_001469,EAW97042,EAW97043,BAD92697,BAF82379,BAG56937,BAG61707,AAH29828,AAA35516,Q00973,Q59FK0,Q8N636,BAH13729 Hs.159481 GALGT|GALNACT (N-acetylneuraminyl)-galactosylglucosylceramide|GD2 synthase, GM2 synthase|GM2/GD2 synthase|GalNAc-T|UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1|UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)|beta-1,4 N-acetylgalactosaminyltransferase 1|beta1,4GalNAc-T|beta1-4GalNAc-T protein-coding 1354479 B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM] 1580863 12678917,14688233,16024623,18485915,17965433,15489334,12477932,11886838,8782649,2425965,20379614 124872 NM_153446,NM_001159387,NM_001159388,AC069454,CH471109,AF510036,AJ517770,AJ517771,AK302876,BC113675,BC113677,S83275 ADR83075,ADR83221,NP_703147,NP_001152859,NP_001152860,EAW94690,EAW94691,AAM34756,CAD57148,CAD57149,BAG64056,AAI13676,AAI13678,AAN86706,Q8IVI2,Q8NHY0 Hs.374679 B4GALT|GALGT2|MGC142235|MGC142237 OTTHUMP00000220017|UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase|UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase|beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT|beta-1,4 N-acetylgalactosaminyltransferase 2|beta-4-N-acetylgalactosaminyltransferase|sd(a) beta-1,4-GalNAc transferase|sda beta-1,4-GalNAc transferase|udp-galnac:neu5acalpha2-3galbeta-r beta1,4-n-acetylgalactosaminyltransferase protein-coding 1603523 B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3 B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM] 18048353,17579116,16728562,15146197,14702039,12966086,20360844,20379614 283358 NM_173593,AC005844,AC006205,CH471116,AB089940,AK093503,AK097681,AK131277,CN400443 NP_775864,EAW88962,EAW88963,EAW88964,EAW88965,BAD02449,BAC04187,BAC05141,BAD18454,Q6L9W6,Q8N9V0,AAI56654 Hs.504416 FLJ16224|FLJ40362 Beta4GalNAc-T3|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2|NGalNAc-T2|beta-1,4-N-acetylgalactosaminyltransferase III|beta4GalNAcT3 protein-coding 1602277 B4GALNT4 beta-1,4-N-acetyl-galactosaminyl transferase 4 18048353,15146197,15044014,14702039,12477932 338707 NM_178537,AC138230,CH471158,AB089939,AK057774,BC035906,BC131528,BF058197,CN348077 NP_848632,EAX02321,BAD06471,BAB71566,AAI31529,Q76KP1 Hs.148074 FLJ25045 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1|NGalNAc-T1|beta-1,4-N-acetylgalactosaminyltransferase IV|beta1,4-N-acetylgalactosaminyltransferases IV|beta4GalNAc-T4|beta4GalNAcT4|betaGT4 protein-coding 1349315 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq] 1599432,1580863 19261593,20202494,20378551,20379614,20619088,20655926,33805,2120039,7540104,10900002,6121819,3917437,18029348,19204726,19106107,18929424,17021253,16786197,16675551,16157350,15668241,15611127,15164053,12477932,11947697,11901181,11506180,11295846,10580128,9597550,8540625,7744867,7579794,3144273,3098628,3094506,3091013,2124683,1903938,1714903,1384956,2829950,2649653,2542563,2541446,2187500,20851383 1599432 2683 NG_008919,AL161445,CH471071,M70432,AK296928,AK297541,AK312797,AK316294,AY864848,BC034244,BC035442,BC045773,BU624063,BX648438,D29805,M13701,M22921,U10472,U10473,U10474,NM_001497,X13223,X14085,X55415,A23697,GM603708 NP_001488,CAD13306,EAW58520,EAW58521,AAB00776,BAG59480,BAG59940,BAG35657,BAH14665,AAH45773,BAA06188,AAA35935,AAA35936,AAA35937,AAA68218,AAA68219,AAA68220,CAA31611,CAA32247,CAA39073,CAA39074,P15291,Q86XA6,CAA01685,CAT03462 Hs.272011 B4GAL-T1|CDG2D|DKFZp686N19253|GGTB2|GT1|GTB|MGC50983|beta4Gal-T1 UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1|beta-1,4-GalTase 1|beta-1,4-galactosyltransferase 1|glycoprotein-4-beta-galactosyltransferase 2|lactose synthase protein-coding 1313336 B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 9405390,18211920,17470362,16710414,15939404,15504978,15489334,14702039,12477932,11588157,10580128,9597550,2829950,2649653,2542563,2541446,2187500,19524017 8704 NM_003780,NM_001005417,AL139220,AL357079,CH471059,AB024434,AF038660,AK074533,AK095873,AK293418,AL137647,BC002431,BC096821,BQ222671,CR591692,CR607401,Y12510 NP_003771,NP_001005417,CAI19431,CAI19432,CAI16802,CAI16803,EAX07062,EAX07063,EAX07064,EAX07065,BAA75819,AAC39733,BAG51967,BAG53152,BAG56925,CAB70857,AAH96821,CAA73112,O60909 Hs.632403 B4Gal-T2|B4Gal-T3|beta4Gal-T2 UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2|UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2|UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2|beta-1,4-GalTase 2|beta-1,4-galactosyltransferase 2|beta-4-GalT2|beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2 protein-coding 1354334 B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. [provided by RefSeq] 1580863 2649653,2542563,2541446,2187500,16169070,9405390,18029348,17613536,16710414,15489334,14702039,12477932,11588157,10580128,9597550,2829950 8703 NG_011480,AL590714,CH471121,NM_003779,AB024435,AF038661,AK023311,AK056851,AK092493,AK291455,BC000276,BC006099,BC009985,CR592876,CR599499,CR605946,CR607487,CR612341,CR614082,Y12509,DC339671,NM_001199873,NM_001199874 NP_003770,CAH72145,EAW52628,EAW52629,EAW52630,EAW52631,EAW52632,EAW52633,EAW52634,BAA75820,AAC39734,BAB14520,BAG51816,BAG52558,BAF84144,AAH00276,AAH06099,AAH09985,CAA73111,O60512,Q71VA3,ABM83420,ABM86632,NP_001186802,NP_001186803 Hs.321231,Hs.517373 beta4Gal-T3 UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3|b4Gal-T3|beta-1,4-GalTase 3|beta-1,4-galactosyltransferase 3|beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3 protein-coding 1317330 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 9792633,15489334,14702039,12975309,12477932,11588157,11337467,10580128,9597550,2829950,2649653,2542563,2541446,2187500,18763123 8702 BX647468,CR626075,CR749555,NM_003778,NM_212543,AC083800,CH471052,AB024436,AF020920,AF022367,AF038662,AK001006,AK123182,AK301688,AK314425,AL833580,AU099090,AY359008,BC004523,BC062618,FJ525878 CAH18352,O60513,NP_003769,NP_997708,EAW79575,EAW79576,BAA75821,AAG50147,AAC72493,AAC39735,BAG50847,BAG63160,BAG37042,AAQ89367,AAH04523,AAH62618,ACN81316 Hs.13225 B4Gal-T4|beta4Gal-T4 OTTHUMP00000215054|OTTHUMP00000215079|UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4|UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4|beta-1,4-GalTase 4|beta-1,4-galactosyltransferase 4|beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4 protein-coding 1320747 B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq] 1580863 9597550,17690104,17656364,16461357,15489334,15263012,14702039,12477932,12385586,11827452,11780052,10580128,9535717,9435216,20417617 9334 NM_004776,AB067772,AL035683,AL162615,CH471077,AB004550,AF038663,AF289556,AK054803,AK056333,BC074821,BC074873,BC104987,BC112265,BG939833,DR000345 NP_004767,BAC07182,CAI19038,CAI18968,EAW75653,EAW75654,BAA25006,AAC39736,AAL55740,AAH74821,AAH74873,AAI04988,AAI12266,O43286,Q7LFU8,Q8WZ36,ADR82962 Hs.370487 B4Gal-T5|BETA4-GALT-IV|MGC138470|beta4Gal-T5|beta4GalT-V|gt-V UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5|UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5|beta-1,4-GalT II|beta-1,4-GalT IV|beta-1,4-GalTase 5|beta-1,4-galactosyltransferase 5|beta-1.4-galactosyltransferase V|beta4-GalT IV protein-coding 737376 B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq] 1580863,1300048 9597550,15489334,12665801,12477932,12180132,10580128,10320813,2829950,2649653,2542563,2541446,2187500,19451621 9331 AC017100,CH471088,AB024742,AB209194,AF038664,AF069054,AF097159,AK314860,BC069620,BC069642,BC074835,BC074884,NM_004775 NP_004766,EAX01267,EAX01268,EAX01269,BAA76273,BAD92431,AAC39737,AAC21570,AAD41695,BAG37376,AAH69620,AAH69642,AAH74835,AAH74884,Q59GB5,Q6NT00,Q6NT09,Q8WZ95,Q9UBX8 Hs.591063 B4Gal-T6|beta4Gal-T6 UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6|UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6|beta-1,4-GalTase 6|beta-1,4-galactosyltransferase 6|beta4GalT-VI protein-coding 1354325 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) linkage found in proteoglycans. Manganese is required as a cofactor. This enzyme differs from the other six beta4GalTs because it lacks the conserved beta4GalT1-beta4GalT6 Cys residues and it is located in cis-Golgi instead of trans-Golgi. Two single-nucleotide mutations were identified from a patient with the progeroid type of Ehlers-Danlos syndrome. [provided by RefSeq] 1599433,1580863 10506123,16583246,10438455,10473568,18158310,15489334,14702039,12975309,12477932,10894925,10580128,3631078,20809901,20843813,20691685,15522873 1599433 11285 NM_007255,AC139795,CH471195,AB028600,AF142675,AJ005382,AK022566,AK023506,AK095882,AK123092,AY358578,BC007317,BC062983,BC072403,CR594028,CR612279,CR617329,CR618705,CR626294,NG_015977,CS488894 NP_009186,EAW84964,EAW84965,BAA83414,AAF22225,CAB56424,BAG51093,BAG51201,BAG53157,AAQ88941,AAH07317,AAH62983,AAH72403,Q9UBV7,ABM83936,ABM87255,CAM55968 Hs.455109 B4GAL-T7|XGALT-1|XGALT1|XGPT1|beta4Gal-T7 UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7|beta-1,4-GalTase 7|beta-1,4-galactosyltransferase 7|beta-1,4-galactosyltransferase VII|beta4Gal-T7|beta4GalT-VII|proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I protein-coding 1602004 B9D1 B9 protein domain 1 The B9 protein function is not known. Identification of a conserved mouse homolog and representation in the EST database indicates that this transcript does represent a gene. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 15231747,19208769,12477932 27077 NM_015681,AC124066,CH471212,AB030506,AI300844,AK293815,AK297782,BC002944,BI833202,CR606056 NP_056496,EAW50878,EAW50879,EAW50880,EAW50881,EAW50882,BAA82655,BAG57221,BAG60126,AAH02944,Q9UPM9 Hs.462445 B9|EPPB9|MKSR1 B9 domain-containing protein 1|MKS1-related protein 1|OTTHUMP00000065902|OTTHUMP00000065904|endothelial precursor protein B9 protein-coding 1603296 B9D2 B9 protein domain 2 19208769,18936436,17127412,16344560,16341674,12477932,8889548,18287022,19692168,17207965,21054877 80776 NM_030578,AC011462,CH471126,BC004157,BC004444,BM833644,BU609059,DA196504,NG_013091 NP_085055,EAW57034,AAH04157,AAH04444,Q9BPU9,ADQ32833 Hs.567596 ICIS-1|MGC4093|MKSR2 B9 domain-containing protein 2|MKS1-related protein 2|involved in cIlia stability-1 protein-coding 736795 BAALC brain and acute leukemia, cytoplasmic This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq] 632264 19555438,18752846,18671757,18378853,17646667,16189514,15749074,15604894,15489334,14702039,12477932,11707601,18029348,19943049,20065290,20306678,20535151,20495894 632264 79870 NM_024812,NM_001024372,AC025370,AF363578,AP003550,CH471060,AF371319,AF371323,AK022077,AK093819,BC011517,BC014365,BC035038,BI548687,CR597062,CR606691,CR607637,CR613048,CR615298 NP_079088,NP_001019543,AAL50377,AAL50378,AAL50379,AAL50380,AAL50381,AAL50382,EAW91862,EAW91863,EAW91864,EAW91865,AAL50515,AAL50519,BAB13960,AAH11517,AAH35038,Q8WXS3,ABM84244,ABM87632 Hs.533446 FLJ12015 brain and acute leukemia cytoplasmic protein protein-coding 735913 BAAT bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863,734629 8034703,2037576,18793185,17495420,17256745,15489334,15164053,12810727,12763038,12704386,12477932,18029348,16712791,12239217,10884298,8954802,10574970,20677014 734629 570 NM_001127610,NG_009774,AL353621,AL359893,CH471105,AK315347,BC009567,BC039200,BC107424,BG565737,CB154234,CR541918,H62757,L34081,NM_001701 AAC37550,Q14032,ABM82836,ABM86021,NP_001692,NP_001121082,CAH72995,EAW58943,EAW58944,EAW58945,EAW58946,AAH09567,AAI07425,CAG46716 Hs.284712,Hs.727664 BACAT|BAT|FLJ20300|MGC104432 bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid-CoA:amino acid N-acyltransferase|bile acid-coenzyme a: amino acid n-acyltransferase|long-chain fatty-acyl-CoA hydrolase protein-coding 4144528 BAATP1 bile acid CoA: amino acid N-acyltransferase pseudogene 1 17116739,18538142,20210993 347275 AL359893,NG_023464 ACNATP|FLJ20300 pseudo 1606566 BACE1 beta-site APP-cleaving enzyme 1 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 20164582,20236612,10531052,10591214,15080893,12354787,10887202,19429494,19344981,19302194,19251705,19196715,19153172,19106624,19074428,19057901,19056495,19011241,18977241,18805488,18798280,18790604,18695061,18660751,18650447,18632981,18587408,18581272,18434550,18393796,18378702,18374657,18307033,18263584,18182766,18182389,18177262,18163181,18039469,17961921,17897958,17854420,17699523,17596706,17576410,17511654,17425515,17409228,17331621,17307738,17293612,17236572,17174011,17113083,16979658,16965550,16908986,16897184,16816111,16757811,16716081,16679558,16611980,16605258,16449801,16354928,16342950,16303743,16279945,16249081,17601350,16246054,16243299,16181410,16033761,16027115,15931081,15886016,15880353,15857888,15824102,15784960,15671026,15628850,15615712,15606899,15592644,15584902,15491607,15489334,15485862,15466887,15452128,15451669,15286784,15247262,15234966,15213451,15211591,15197182,15096037,15059977,15059975,15034149,14991462,14978286,14748707,14748006,14701757,14699153,14681914,14567678,14507929,12928915,12901838,12857759,12824768,12801932,12707937,12665519,12649271,12618121,12586838,12586836,12535780,12514700,12477932,12471021,12445809,12438920,12270690,12223024,12206667,12135764,12112088,12093293,12054559,12054507,11953458,11922623,11860271,11847218,11744168,11741910,11714100,11684351,11516562,11466313,11278841,11266439,11234778,11152683,11032903,11021803,20685197,20849576,20946940,20806954,10956649,10801872,10749877,10677483,10656250,10591213,10574461,19372755,20354142,20484053,15749709,16769154,18255190,19405102,19462468,19508864,19682432,19815556,19827607,19889475,19968762,20041192,20066010,20080541,20089133,20127045,20212127,20455082,20468060 23621 NM_012104,NM_138972,NM_138971,NM_138973,AP000892,AY162468,CH471065,CS027018,DQ007053,AB032975,AB050436,AB050437,AB050438,AB089958,AB177847,AF161367,AF190725,AF200193,AF200343,AF201468,AF204943,AF324837,AF338816,AF338817,AK075049,AK296015,AK296535,AL833810,BC036084,BC065492,BM996673,BQ005204,EF444940 Q9P0D2,ABM82435,ABM85626,NP_036236,NP_620428,NP_620427,NP_620429,AAO23912,EAW67308,EAW67309,EAW67310,EAW67311,EAW67312,EAW67313,EAW67314,EAW67315,EAW67316,EAW67317,CAI61888,AAY16982,BAA86463,BAB40931,BAB40932,BAB40933,BAC81826,BAD66825,AAF28927,AAF04142,AAF13715,AAF17079,AAF18982,AAF26367,AAM54050,AAK38374,AAK38375,BAG52056,BAH12238,BAH12380,CAD38674,AAH36084,AAH65492,P56817,Q5W9H2,Q6YBQ9,Q76KP0,Q8IYC8,Q8NDU6,ACA05927 Hs.504003 ASP2|BACE|FLJ90568|HSPC104|KIAA1149 APP beta-secretase|OTTHUMP00000218635|OTTHUMP00000218636|asp 2|aspartyl protease 2|beta-secretase 1|beta-secretase 1 precursor variant 1|beta-site APP cleaving enzyme 1|beta-site amyloid beta A4 precursor protein-cleaving enzyme|beta-site amyloid precursor protein cleaving enzyme 1|memapsin-2|membrane-associated aspartic protease 2|transmembrane aspartic proteinase Asp2 protein-coding 2881130 BACE1AS BACE1 antisense RNA (non-protein coding) 10737800,18587408 100379571 BF886632,CB960709 Hs.667551 BACE1-AS|BACE1-AS1|BACE1AS|FJ573250|NCRNA00177 miscrna 1350115 BACE2 beta-site APP-cleaving enzyme 2 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease and a frequent complication of Down syndrome. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein by 2 proteases, one of which is the protein encoded by this gene. This gene localizes to the 'Down critical region' of chromosome 21. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 12611455,12618121,12477932,12423367,12093293,11741910,11423558,11316808,11083922,10965118,10936190,10931940,10838186,10830953,10683441,10656250,10605825,8764598,12135764,19840121,12665519,10591213,12801932,10749877,10677483,19240061,19124009,18163181,17307738,17113083,16965550,16816112,16757812,16757811,16305800,16023140,15857888,15489334,15178331,14684825,12975309,12895444,12707937,20943756,19913121,20628086,19968762 25825 NM_138992,NM_138991,AL163284,AL163285,AL773572,AL773575,AL773578,AY769996,CH471079,AF050171,AF117892,AF178532,AF188276,AF188277,AF200192,AF200342,AF204944,AF212252,AK075539,AK292056,AY358927,NM_012105,AY429520,BC014453,BQ006998,CR622762 NP_036237,NP_620477,NP_620476,CAB90458,CAB90554,AAX14808,EAX09611,EAX09612,EAX09613,AAD45963,AAD45240,AAF29494,AAF35835,AAF35836,AAF13714,AAF17078,AAF26368,AAG41783,BAC11682,BAF84745,AAQ89286,AAH14453,Q9Y5Z0,ABM86342,ABW03781 Hs.529408 AEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAP 56 kDa aspartic-like protease|Down syndrome region aspartic protease|asp 1|aspartic-like protease 56 kDa|aspartyl protease 1|beta secretase 2|beta-secretase 2|beta-site APP cleaving enzyme 2|beta-site amyloid beta A4 precursor protein-cleaving enzyme 2|beta-site amyloid precursor protein cleaving enzyme 2|down region aspartic protease|memapsin-1|membrane-associated aspartic protease 1|theta-secretase|transmembrane aspartic proteinase Asp1 protein-coding 1315457 BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq] 1580863 9479503,9544839,16780588,18029348,19064572,18550526,17881434,17065227,16964243,16771696,16724942,16530877,15734732,15613547,15489334,15465821,15464985,15175654,15068251,15068237,14660636,14504288,12511571,12477932,11069897,10830953,10669750,8889548,8887638,17682061,17525340,19591297,19618874,19822148,19874887,20127796,20159562,16341674,19011633,20345481 571 NM_001186,NM_206866,NR_027655,AF124731,AL163249,AP000240,AP001705,CH471079,AA402241,AB002803,AF026199,AF026200,AF317902,AF317903,AI336948,AK291021,AK313791,BC063307,BM837454,BU933041,CF890820,CR450303,DB524401 NP_001177,NP_996749,AAD14689,CAB90435,BAA95505,EAX09913,EAX09914,BAA24932,AAB84100,AAB84101,AAK08197,BAF83710,BAG36528,AAH63307,CAG29299,O14867,Q6ICU0,Q9BXM4,ABZ91995 Hs.154276,Hs.721915 BACH-1 BTB and CNC homolog 1|HA2303|basic region leucine zipper transcriptional regulator BACH1|transcription regulator protein BACH1 protein-coding 1319503 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 1580863 19073967,18978792,18929412,18840781,18769450,18256039,17991429,17383980,17262715,17044046,17018862,16832351,16344560,15060166,14982850,14574404,12829606,11923289,11746976,10949928,10809773,10669750,8887638,20647273,12477932,15146197,17046816,19430480,20190752,20203524,20379614,21102463 60468 HI573894,NM_021813,AL117342,AL121787,AL121941,AL158136,AL159164,AL353692,CH471051,AA885077,AB208889,AF357835,AJ271878,AK309526,AL512739,DB077323,BC070239,CN261405,DB240991,NM_001170794 CBX47436,NP_068585,CAD92600,CAI21648,CAI16237,EAW48530,EAW48531,EAW48532,EAW48533,EAW48534,BAD92126,AAK48898,CAC28130,Q7Z6Q0,Q9BYV9,AAI66613,NP_001164265 Hs.269764 BTB and CNC homolog 2|OTTHUMP00000016868|transcription regulator protein BACH2 protein-coding 735541 BAD BCL2-associated agonist of cell death The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq] 1579966,2292690,2292693,2292697,2314029,2292699,2292694,2292681,2292675,2292674,2292676,2292677,2292680,2292685,2292700,1580863,1300048,2292673,2292679 20339252,19508210,19895838,18029348,20647330,20855536,20877624,20596645,20691103,20936779,15489334,15226424,15033904,14967141,14767529,14702039,12965220,12954615,12931191,12897128,12842996,12754297,12477932,12239175,12115603,12087097,12084714,11994280,11878929,11839683,11781193,11717309,11583631,11544290,11494146,11483855,11410287,11278245,11206074,10949026,10880354,10837489,10837486,10811615,10611223,10579309,10558990,10521512,10407019,10381646,9878060,9651683,9463381,9369453,9305851,8929532,8929531,7834748,11739707,16445909,15078178,11689886,15705582,15694340,12137781,11077446,10620799,9824152,9389483,11500364,11742726,15574335,15721256,9130713,9973195,10949025,15231831,9388232,9381178,10195903,12657644,15183529,19587239,19171933,18852119,18832722,18798227,18775810,18651222,18651163,18636124,18593990,18568448,18508827,18508762,18449891,18420586,18402774,18391004,18276761,18246127,18165867,18006502,17927446,17900801,17696989,17696955,17670745,17557568,17544220,17541305,17499381,17446862,17438366,17420275,17404594,17393317,17287851,17110373,17011751,16978419,16949642,16932738,16908594,16847055,16843435,16785131,16767165,16728406,16710454,16603546,16484005,16403219,16297499,16189514,16148027,15901741,15849194,15767261,15751984,15731037,19882362,12376548,12787561,15131699,15784622,16413544,16697956,17270021,17274640,17474147,19168699,19593445,19641507,19667065,19679565,19730683,19773546,20043968,20700721,20810912,19913121,20628086 1579966,2292690,2292693,2292697,2314029,2292699,2292694,2292681,2292675,2292674,2292676,2292677,2292680,2292685,2292700,2292673,2292679 572 CR541935,CR541959,U66879,NM_032989,AP001453,CH471076,AB451254,AB451378,AF021792,AF031523,AK023420,AK291863,AK303051,AK309150,AW014069,BC001901,BC095431,BE255791,BG435829,BG748336,BT006678,NM_004322 AAP35324,ABW03814,CAG46733,CAG46757,AAB36516,Q6FH21,Q92934,ABM86710,NP_004313,NP_116784,EAW74233,EAW74234,EAW74235,EAW74236,BAG70068,BAG70192,AAB72092,AAB88124,BAF84552,BAG64171,AAH01901,AAH95431 Hs.370254 BBC2|BCL2L8 BCL-X/BCL-2 binding protein|BCL2-antagonist of cell death|BCL2-antagonist of cell death protein|BCL2-binding component 6|BCL2-binding protein|bcl-2 associated death agonist|bcl-2-binding component 6|bcl-2-like protein 8|bcl-XL/Bcl-2-associated death promoter|bcl2 antagonist of cell death|bcl2-L-8 protein-coding 1313091 BAG1 BCL2-associated athanogene The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. At least three protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) start site, and alternative, downstream, AUG translation initiation sites. [provided by RefSeq] 2292908,2296021,2293888,2293886,2293889,2293885,1580863 20409521,17662274,17657847,17549665,17278878,16482527,16457154,16381901,16292491,16042572,15986447,15843891,15831476,15707960,15489336,15489334,15309313,15297164,15199607,15169918,15075668,14978028,14702039,14680805,14532969,14517289,12874020,12845674,12724406,12477932,12402153,12049201,11994280,11741305,11676916,11340068,11278763,11256614,11231577,11101523,11076863,10967105,10816573,10671488,10477749,10467399,9873016,9679980,9642262,9603979,9582267,9396724,9373149,9305631,8812483,8692945,8524784,8125298,7834747,9565586,15603737,11222862,8947043,18029348,19595997,19317853,19293798,19151744,19066611,18822299,18805052,18684711,18523358,18430249,18413740,18204076,17954934,17950682,17700523,17693608,15538384,20819778,20855536,20858459,12853476,19243896,19546472,19778524,19881545,20096920,20156966,20237496,8889548,9747877,20675402,19913121,20628086,21036726 2292908,2296021,2293888,2293886,2293889,2293885 573 BG723775,CR600928,CR603873,CR605802,CR614940,CR618366,CR618567,U46917,Z35491,AL161445,AL356472,CH471071,AF022224,AF116273,AK093238,AK096038,AK222749,AK316577,BC001936,BC014774,NM_004323,CN478628,NM_001172415 AAD11467,CAA84624,Q5VZF1,Q99933,CAL37446,NP_004314,CAH72516,CAH72517,CAH72518,CAH72520,CAH72741,CAH72742,CAH72743,EAW58514,EAW58515,EAW58516,EAW58517,AAC34258,AAD25045,BAD96469,AAH01936,AAH14774,NP_001165886 Hs.377484 HAP|RAP46 BAG family molecular chaperone regulator 1|BAG-1|Bcl-2 associating athanogene-1 protein|Bcl-2-binding protein|OTTHUMP00000021199|bcl-2-associated athanogene 1|glucocortoid receptor-associated protein RAP46|receptor-associated protein, 46-KD protein-coding 1343744 BAG2 BCL2-associated athanogene 2 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq] 1580863 12477932,17353931,9873016,9873015,16381901,16344560,16207813,16169850,15489336,15489334,15271996,14702039,14574404,11256614,11230166,11076863 9532 NM_004282,AL031321,AL136311,CH471081,AF095192,AK001015,AK023735,AK301934,AL050287,BC125039,CA442969,CR533496,CR606486,CR612315,CR621395,DA874388 NP_004273,CAI21565,CAI20515,EAX04475,AAD16121,BAG50848,BAG51221,BAG63354,CAB43388,AAI25040,CAG38527,O95816,CAL37573,CAL37883 Hs.727667 BAG-2|KIAA0576|MGC149462|dJ417I1.2 BAG family molecular chaperone regulator 2|BAG-family molecular chaperone regulator-2|bcl-2-associated athanogene 2|dJ417I1.2 (BAG-family molecular chaperone regulator 2) protein-coding 1317192 BAG3 BCL2-associated athanogene 3 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq] 1580863,2325847,2325848,2325843 19913121,20628086,20535599,20936779,10597216,9873016,19352495,19212330,19111544,19088197,19085932,18821563,18469860,18286539,18094623,18006506,17996194,17974966,17507989,17187345,17164298,17081983,16964243,16859681,16391524,16189514,16094384,15592455,15489334,15302935,12750378,12706811,12700638,12477932,11591653,11513873,10980614,9373149,8125298,11527400,20605452,20800573,19777443,16385451,19282432,19615732,19845507,19850283,20018251,20232307,20368414,20800603,20819778,20855536 2325843 9531 NM_004281,AC012468,CH471066,AF071218,AF095193,AF127139,AK222800,AK291333,AK313026,AL137582,BC006418,BC014656,BC107786,NG_016125 NP_004272,EAW49382,EAW49383,AAF69592,AAD16122,AAF26839,BAD96520,BAF84022,AAH06418,AAH14656,AAI07787,O95817,Q53GY1,ABM84342,ABM87771,CAB70824 Hs.523309 BAG-3|BIS|CAIR-1|MGC104307 BAG family molecular chaperone regulator 3|BAG-family molecular chaperone regulator-3|BCL2-binding athanogene 3|bcl-2-associated athanogene 3|bcl-2-binding protein Bis|docking protein CAIR-1 protein-coding 1350570 BAG4 BCL2-associated athanogene 4 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. [provided by RefSeq] 2292150,1580863,2325852 19913121,20628086,9915703,9873016,17366557,17178857,15489334,14559896,12875962,12706861,12477932,12058034,12017295,11527400,10508612,11909948,18029348,20855536,17605853 2292150,2325852 9530 NM_004874,AC084024,CH471080,AF095194,AF111116,AI640615,AK304072,AK314020,BC000800,BC038505 NP_004865,EAW63330,EAW63331,AAD16123,AAD05226,BAG64979,BAG36731,AAH38505,O95429 Hs.194726 BAG-4|SODD BAG family molecular chaperone regulator 4|BAG-family molecular chaperone regulator-4|bcl-2-associated athanogene 4|silencer of death domains protein-coding 1321985 BAG5 BCL2-associated athanogene 5 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,19615732,16344560,9873016,15603737,15489334,14702039,12477932,10048485,9373149,9321400,8125298,7834747,20819778,20855536 9529 CA424706,DB022769,DB457402,NM_001015048,NM_004873,NM_001015049,AL139300,CH471061,AA481394,AB020680,AF095195,AK001378,AK023145,AK225730,BG719955,BI561258,AK225741,AK291312,BC044216,BC050551,BF941752 NP_001015048,NP_004864,NP_001015049,EAW81826,EAW81827,EAW81828,BAA74896,AAD16124,Q9UL15,BAF84001,AAH44216,AAH50551 Hs.5443 BAG-5 BAG family molecular chaperone regulator 5|BAG-family molecular chaperone regulator-5|bcl-2-associated athanogene 5 protein-coding 1344125 BAGE B melanoma antigen This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq] 18541613,15704127,12676563,12477932,12461691,12115308,7895173,20423514 574 NM_001187,AF254983,AF499647,AF527550,AF527551,AF527552,AF527553,AF527554,BC107038,BC107039,BC113810,U19180 NP_001178,AAP30743,AAO32670,AAO32671,AAO32672,AAO32673,AAO32674,AAI07039,AAI07040,AAI13811,AAC50123,Q13072,Q29RY1 Hs.545789,Hs.624543,Hs.571595 BAGE1|CT2.1 B melanoma antigen 1|antigen MZ2-BA|cancer/testis antigen 2.1|cancer/testis antigen family 2, member 1 protein-coding 1349446 BAGE2 B melanoma antigen family, member 2 18074101,16963709,15489334,12909339,12676563,12477932,12461691,17803354 85319 NM_182482,AF254983,AF218570,AK292540,BC101132,BC101133 NP_872288,AAL55648,BAF85229,AAI01133,AAI01134,Q86Y30,AAI72334 Hs.545789 CT2.2 B melanoma antigen 2|cancer/testis antigen 2.2|cancer/testis antigen family 2, member 2 protein-coding 1351944 BAGE3 B melanoma antigen family, member 3 12676563,12477932,12461691,7895173,16009131,17803354 85318 NM_182481,AF339514,BC101134 NP_872287,AAO32634,AAI01135,Q86Y29 Hs.545789 CT2.3 B melanoma antigen 3|cancer/testis antigen 2.3|cancer/testis antigen family 2, member 3 protein-coding 1342618 BAGE4 B melanoma antigen family, member 4 12676563,12461691,7895173 85317 NM_181704,AF254983,AF339515 NP_859055,AAO32635,Q86Y28,AAI60157 Hs.545789 CT2.4|MGC119851|MGC119852|MGC119853|MLL3P B melanoma antigen 4|MLL3 pseudogene|cancer/testis antigen 2.4|cancer/testis antigen family 2, member 4 protein-coding 1348044 BAGE5 B melanoma antigen family, member 5 12676563,12461691,7895173 85316 NM_182484,AF339516 NP_872290,AAO32636,Q86Y27,AAI56847 Hs.545789 CT2.5 B melanoma antigen 5|cancer/testis antigen 2.5|cancer/testis antigen family 2, member 5 protein-coding 1606249 BAHCC1 BAH domain and coiled-coil containing 1 14702039,12477932,10819331,12421765 57597 AC139149,AC110285,AC153475,CH471099,AB040880,AF086116,AK026711,AK056636,AL713748,BC033222,BC050673,NM_001080519 NP_001073988,EAW89652,BAA95971,AAH33222,Q9H5T5,Q9P281,BAB15535 Hs.514580 BAHD2|FLJ23058|KIAA1447 BAH and coiled-coil domain-containing protein 1|BAH domain-containing protein 2|bromo adjacent homology domain-containing protein 2 protein-coding 1345980 BAHD1 bromo adjacent homology domain containing 1 737633,1580863 16189514,12477932,12421765,10231032,8889548,19913121,20628086,19666599 737633 22893 NM_014952,AC013356,CH471125,AB023162,AL833923,BC022782,BU740533 NP_055767,EAW92416,EAW92417,EAW92418,BAA76789,CAD38779,AAH22782,Q8TBE0 Hs.22109 KIAA0945 BAH domain-containing protein 1|bromo adjacent homology domain-containing 1 protein protein-coding 1313737 BAI1 brain-specific angiogenesis inhibitor 1 Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq] 1580863 14980512,9647739,9790924,10343108,11245925,7531056,15203201,14702039,12543931,12507886,12074842,11937501,11875720,10748157,9772287,9533023,9393972,19615732 575 NM_001702,AC139676,CH471162,AB005297,AK123982 NP_001693,EAW82323,BAA23647,O14514,AAI56201 Hs.194654 FLJ41988|GDAIF brain-specific angiogenesis inhibitor 1 protein-coding 1319770 BAI2 brain-specific angiogenesis inhibitor 2 BAI1, a p53-target gene, encodes brain-specific angiogenesis inhibitor, a seven-span transmembrane protein and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities and may also play a role in angiogenesis. [provided by RefSeq] 1580863 14697242,12218411,15203201,16710414,16344560,14702039,12543931,12508107,12477932,10964907,9533023,20367554,16169070,16412436,20677014 576 NM_001703,AB065648,AC114488,AL354919,CH471059,AB005298,AK123392,AK294361,AK294999,AK296502,AK307805,BC009035,BC014780,BC136533,BE379230,CR602649,CR623649,DA314854 NP_001694,BAC05874,CAI16890,EAX07589,EAX07590,EAX07591,EAX07592,EAX07593,EAX07594,BAA25362,BAG57625,BAG58063,BAG59135,AAH09035,AAI36534,O60241,CAM12878 Hs.524138 Brain-specific angiongenesis inhibitor-2|OTTHUMP00000003957|OTTHUMP00000195040|OTTHUMP00000195041|OTTHUMP00000195042|brain-specific angiogenesis inhibitor 2 protein-coding 1320187 BAI3 brain-specific angiogenesis inhibitor 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq] 1580863 15203201,19240061,18628273,15489334,12477932,12168954,9628581,9533023,20379614,20339536,19913121,20628086,20677014 577 NM_001704,AL035469,AL078598,AL133378,AL158051,AL160401,AL356117,AL359714,AL391807,AL589875,CH471051,AB005299,AB011122,AK289696,AK293560,AK295516,AK316174,BC111720,CR600879,CR603474,CR740925,DB446627 NP_001695,CAC34969,CAI19625,CAH73864,CAH71772,CAH71522,CAI21673,EAW48836,EAW48837,BAA25363,BAA25476,BAF82385,BAH11536,BAH12092,BAH14545,AAI11721,O60242 Hs.13261 KIAA0550|MGC133100 OTTHUMP00000016691|brain-specific angiogenesis inhibitor 3|dJ91B17.1 (brain-specific angiogenesis inhibitor 3) protein-coding 732926 BAIAP2 BAI1-associated protein 2 The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 10343108,19286134,19193906,19054385,18417251,17371834,17115031,17003044,16713569,16702231,16189514,15673667,15635447,15592455,15489334,15324660,15289329,14752106,14702039,14667819,14596909,12884081,12598619,12504591,12477932,12054568,11696321,11157984,11130076,10814512,10460236,10332026,9373149,8125298,16169070,17353931,20678498,20936779,20418908,18029348,18215522,19171758,19460367,19733838,19762983,19933840,20360004,16712791,20621182 10458 NM_006340,NM_001144888,NM_017451,NM_017450,AB104726,AC115099,AC127496,CH471099,AB015019,AB015020,AB017119,AB017120,AK023688,AK056888,AK222670,AK225612,AK297644,AK298629,AK301436,BC002495,BC014020,BC032559,CB153324,U70669 NP_006331,NP_001138360,NP_059345,NP_059344,BAC57945,BAC57946,BAC57947,BAC57948,EAW89625,EAW89626,EAW89627,EAW89628,BAA36586,BAA36587,BAA74773,BAA74774,BAG51821,BAD96390,BAG60012,BAG60805,BAG62963,AAH14020,AAH32559,AAB93497,Q9UQB8,ABM84382,ABM87328 Hs.128316 BAP2|FLAF3|IRSP53 BAI-associated protein 2|IRS-58|IRSp53/58|brain-specific angiogenesis inhibitor 1-associated protein 2|fas ligand-associated factor 3|insulin receptor substrate p53|insulin receptor substrate p53/p58|insulin receptor substrate protein of 53 kDa protein-coding 1352215 BAIAP2L1 BAI1-associated protein 2-like 1 18029348,19366662,17430976,17081983,16344560,15489334,15324660,14752106,12853948,12690205,12477932,10931946,9847074,8889548,17568789,18215522,19807924,20562859 55971 NM_018842,AC004841,AC093169,AC093799,CH236956,CH471091,AF119666,AK027109,AK027142,AK074419,AK124269,AK309936,BC013888,BI560834,BM977002,DA442866,NG_013090 NP_061330,AAD20937,AAS07549,AAS07550,EAL23890,EAW76706,EAW76707,AAF17223,BAB15671,AAH13888,Q9UHR4,ACE87758,ACE87078 Hs.656063 FLJ42275|IRTKS BAI1-associated protein 2-like protein 1|brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1|insulin receptor tyrosine kinase substrate protein-coding 1342805 BAIAP2L2 BAI1-associated protein 2-like 2 18029348,15489334,12975309,12477932,10591208 80115 NM_025045,AL022322,AL031587,CH471095,AK026235,AK026263,AW007403,AY358164,BC015619 NP_079321,CAI17932,CAI18966,EAW60216,EAW60217,BAB15405,AAQ88531,AAH15619,Q6UXY1,Q9H661 Hs.474822 FLJ22582 BAI1-associated protein 2-like protein 2|brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 protein-coding 1318052 BAIAP3 BAI1-associated protein 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. [provided by RefSeq] 9790924,16381901,15616553,15489336,15489334,12477932,12168954,11230166,11157797,11076863,9872452,9110174,8619474,12498718 8938 NM_003933,AE006467,AL031709,CH471112,AB018277,AF038191,AK294491,AK294576,AK294744,AK295645,AK299309,AK299358,AK315059,AL834321,BC104966,BC112129 NP_003924,AAK61275,CAB56182,CAM26362,EAW85670,EAW85671,EAW85672,BAA34454,BAG57713,BAG57768,BAG57886,BAG58515,BAG61321,BAG61353,BAG37534,CAH56376,AAI04967,AAI12130,O94812,CAL38712 Hs.458427 BAP3|KIAA0734|MGC138334 BAI-associated protein 3|BAI1-associated protein 3|OTTHUMP00000158651 protein-coding 1353034 BAK1 BCL2-antagonist/killer 1 The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq] 2313963,2315700,2315701,2313975,2315703,1643479,2315709,1580863,2316133 16988840,16978419,16874066,16847458,16794010,16645094,16529740,16439990,16436379,16410245,16376985,16341674,16172118,15846589,15757910,15638362,15638360,15489334,15478112,15467752,15351796,15322047,15248898,15194786,15159409,15124764,15077116,15003505,14702039,14647456,14596824,14574404,12881569,12847083,12808108,12624178,12624108,12477932,12454021,12297281,12176904,12070120,11964315,11940658,11932420,11929871,11908704,11867266,11795669,11728179,11571294,11326099,11175750,10639121,10579309,10381646,10365962,10085290,9878060,9573342,9463381,9020082,8521816,7715731,7715730,7715729,14980220,17353931,15637055,16189514,12137781,15846303,20629644,15901672,10837489,9843949,10381623,9111042,10950869,12721291,19463775,19282307,19255499,19135534,19074885,19056676,19041633,18927073,18715924,18676680,18665919,18636124,18593893,18524770,18472157,18471982,18413764,18362892,18349538,18299329,18251703,18178565,18056640,17991745,17927446,17880809,17879944,17724463,17699158,17698840,17686864,17513609,17235284,17227835,17188240,17074758,17015472,16712791,19343496,20428767,11206074,15292519,19060904,19168699,19170196,19351886,19381065,19481066,19483681,19514060,19587033,19625176,19692168,19820697,19875445,19898928,19955184,20308427,20453000,20836993,20959805,21036904,19913121,20628086,20561923,20460378,20855536,20877624 2313963,2315700,2315701,2313975,2315703,1643479,2315709,2316133 578 AY260471,CH471081,D88397,Z93017,AF520590,AK091807,AK292093,AK293547,AK303422,BC004431,BC032789,BC110337,BM855203,CB142221,CR457419,CR600490,CR608985,CR610168,CR615881,CR615932,U16811,U23765,X84213,CR627020,NM_001188 NP_001179,AAO74828,EAX03740,EAX03741,EAX03742,BAA13606,CAB65626,AAM74949,BAG52419,BAF84782,BAG57025,BAG64474,AAH04431,AAI10338,CAG33700,AAA74466,AAA93066,CAA58997,Q16611,Q8NFF3,CAI46254,ABM83453,ABM86665 Hs.485139 BAK|BAK-LIKE|BCL2L7|CDN1|MGC117255|MGC3887 BCL2-like 7 protein|apoptosis regulator BAK|bcl-2 homologous antagonist/killer|bcl-2-like protein 7|bcl2-L-7|pro-apoptotic protein BAK protein-coding 1346993 BAMBI BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq] 737633,1580863 10942595,8621228,19328798,19326429,18838381,18756595,16189514,20513241,15489334,15340161,15240101,15164054,14660579,12477932,12107411,9373149,8125298,20634891,19758997,19998449,20189233 737633 25805 AI680996,AK223065,AK290639,BC019252,BQ640107,BT006820,CR592169,CR592969,CR598096,CR598415,CR605506,CR606572,CR616386,CR617546,U23070,NM_012342,AJ277487,AL161936,CH471072,U29189 BAD96785,BAF83328,AAH19252,AAP35466,AAC50435,Q13145,Q53G66,Q9NXZ6,NP_036474,CAB89152,CAC16002,EAW86030,EAW86031,AAR02414 Hs.533336 NMA BMP and activin membrane-bound inhibitor homolog|non-metastatic gene A protein|putative transmembrane protein NMA protein-coding 1342836 BANF1 barrier to autointegration factor 1 The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein. 632371,1580863 14645565,14523012,12663813,12493765,12477932,12163470,11792822,11792821,11005805,10924106,10908652,10651245,10393804,9783751,9740667,9521877,7937898,16738646,16680152,16403635,16075307,15875659,12091904,16291214,9465049,12228227,15479846,18628300,18005698,17519288,16371512,16337940,16204256,16203725,16155580,15681850,15635413,15546916,15489334,15130582,15109603,12215455,19759913 632371 8815 AP006287,NM_003860,NM_001143985,CH471076,AF044773,AF068235,AF070447,AK311961,BC005942,BC008705,BC107702,BG748852,BU940708,CR542140,CR611359 NP_001137457,NP_003851,EAW74483,EAW74484,EAW74485,EAW74486,AAC08964,AAD15901,AAC23575,BAG34901,AAH05942,AAI07703,CAG46937,O75531 Hs.433759 BAF|BCRP1|D14S1460|MGC111161 barrier-to-autointegration factor|breakpoint cluster region protein 1 protein-coding 1348743 BANF1L1 barrier to autointegration factor 1-like 1 414169 1350560 BANF1P1 barrier to autointegration factor 1 pseudogene 1 9740667 317687 NG_002455,AL117694 BCRG1|BCRP1|D14S1460|D14S1460E pseudo 1317375 BANF2 barrier to autointegration factor 2 16337940,15489334,12477932,11780052,7829101,20379614 140836 NM_001014977,NM_178477,NM_001159495,AL132765,AL160071,CH471133,AA394107,AW022487,BC054871,BC062735 NP_001014977,NP_848572,NP_001152967,CAC15540,EAX10271,EAX10272,AAH54871,AAH62735,Q9H503 Hs.115366 BAF-L|BAF2|BAFL|C20orf179|MGC62093|MGC72082 OTTHUMP00000162797|barrier-to-autointegration factor 2|barrier-to-autointegration factor-like protein protein-coding 1342509 BANK1 B-cell scaffold protein with ankyrin repeats 1 BANK1 is a B-cell-specific scaffold protein and LYN (MIM 165120) tyrosine kinase substrate that promotes tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors (see ITPR1; MIM 147265) (Yokoyama et al., 2002 [PubMed 11782428]).[supplied by OMIM] 19339986,19180476,19110536,18204447,16344560,15489334,14702039,12477932,11782428,19357697,11329013,19644876,19815934,19877059,20131273,20379614,20472928,20848568,20881011,20962850,21068098,21078628 55024 AW574859,BC032241,DA109829,DA946668,EU051376,NM_017935,NM_001127507,NM_001083907,AC095062,AC109928,AP002075,CH471057,AA768944,AB063170,AK000713,AK091523,AK093024,AK292133,AK301936,AL834291,AC093694,AI864790,BE748761,BG200452,NG_015824 AAH32241,ABW74340,Q8NDB2,ABM81992,ABM85173,CAD38965,NP_060405,NP_001120979,NP_001077376,EAX06127,EAX06128,BAB79255,BAA91337,BAC03685,BAF84822,BAG63356 Hs.480400 BANK|FLJ20706|FLJ34204 B-cell scaffold protein with ankyrin repeats|OTTHUMP00000219424|OTTHUMP00000219426 protein-coding 1316673 BANP BTG3 associated nuclear protein This gene encodes a protein that binds to matrix attachment regions. The protein functions as a tumor suppressor and cell cycle regulator. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 19303885,18981184,16344560,16189514,16166625,15701641,15623522,15371550,15146197,14702039,12494467,12477932,10950932,10940556,8889549,20719862,17668048,18822384,19448619,19799771,20075864,20153327,20379614,20097305,20562859 54971 NM_079837,NM_017869,AC127455,AC134312,CH471114,AK001039,AK094158,AK125232,AK293472,AK297945,AK315089,AK315535,AL157429,BC009424,BC018247,CN289917,DA632793,NM_001173539,NM_001173540,NM_001173541,NM_001173542,NM_001173543 NP_524576,NP_060339,EAW95364,EAW95365,EAW95366,EAW95367,EAW95368,EAW95369,EAW95370,BAG50850,BAC04296,BAG54171,BAG56965,BAG60261,BAG37554,CAB75653,AAH09424,Q8N9N5,Q9NSS6,ABM84102,ABM87474,NP_001167010,NP_001167011,NP_001167012,NP_001167013,NP_001167014 Hs.461705 BEND1|DKFZp761H172|FLJ10177|FLJ20538|SMAR1|SMARBP1 BEN domain containing 1|BEN domain-containing protein 1|OTTHUMP00000175042|btg3-associated nuclear protein|protein BANP|scaffold/matrix-associated region-1-binding protein protein-coding 1323652 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) The protein encoded by this gene localizes to the nucleus and it interacts with the RING finger domain of the breast cancer 1, early onset protein (BRCA1). This gene is thought to be a tumor suppressor gene that functions in the BRCA1 growth control pathway. There are multiple polyadenylation sites found in this gene. [provided by RefSeq] 1580863 20436459,18029348,20805357,21051595,9528852,19367581,19197335,19117993,18950845,18757409,15489334,15302935,14702039,12800201,12477932,12168954,10546591,9373149,9039502,8125298,19188440,19615732,19815555,19950226 8314 AC092045,AJ011861,CH471055,AB002534,AF045581,AK092725,AK094499,AK225494,AK292608,AK295395,AK307274,AY130008,BC001596,BX647318,D87462,D88812,NM_004656 NP_004647,EAW65220,EAW65221,BAB46926,AAC15970,BAG52602,BAF85297,BAG58349,AAN05092,AAH01596,BAA13401,BAB46921,Q92560,Q96TC6,ABM83471,ABM86682 Hs.106674 DKFZp686N04275|FLJ35406|FLJ37180|HUCEP-13|KIAA0272|UCHL2|hucep-6 BRCA1-associated protein 1|OTTHUMP00000212984|cerebral protein 6|cerebral protein-13|cerebral protein-6|ubiquitin carboxy-terminal hydrolase|ubiquitin carboxyl-terminal hydrolase BAP1 protein-coding 736238 BARD1 BRCA1 associated RING domain 1 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. [provided by RefSeq] 734631,2293149,2315713,2315714,2315716,2315717,2315727,2315729,2315732,2315715,632230,1580863 12419249,15782130,8944023,10026184,10477523,15184379,15265711,15905410,15632137,17525342,19261748,19261749,14976165,19197335,19176389,19164445,19124506,19117993,19064572,19064565,18950845,18842000,18676680,18481171,12183411,12154023,11943588,11927591,11925436,11807980,11779501,11777930,11773071,11573085,11498787,16489000,19690564,18480049,18243530,18089818,17972171,17678435,17556008,17550235,17497650,17399677,17333333,17275994,17185394,17028982,16825437,16768547,16672066,16344560,16333312,16152612,16061562,15886201,15855157,15815621,15665273,15489334,15383276,15342711,15218362,15159397,14647430,14638690,14560035,14550946,12890688,12781370,12732733,12611903,12485996,12477932,12438698,12431996,11257228,10764811,10362352,9798686,9425226,9373149,9342365,8889548,8125298,14636569,12951069,12887909,12700228,11526114,11504724,11301010,11278247,10635334,9788437,9738006,11799067,18936166,21124317,17525341,19170196,19412175,19482343,19536092,19584272,19615732,19625176,19692168,19789190,19796682,19887602,19959210,20060929,20077502,20215511,20379614,20453000,19714462 734631,2293149,2315713,2315714,2315716,2315717,2315727,2315729,2315732,2315715,632230 580 NM_000465,NG_012047,AC016708,AF038034,AF038035,AF038036,AF038037,AF038038,AF038039,AF038040,AF038041,AF038042,CH471063,AK223409,AK301843,AK310759,AK314260,BC126426,BC126428,BU677525,BX098964,CR621362,DB088853,U76638 NP_000456,AAX93130,AAB99978,EAW70519,BAD97129,BAG63286,BAG36925,AAI26427,AAI26429,AAB38316,A0AVN2,Q53F80,Q99728 Hs.591642 BARD-1|BRCA1-associated RING domain gene 1|BRCA1-associated RING domain protein 1|brca1-associated ring domain protein 1 protein-coding 733588 BARHL1 BarH-like homeobox 1 1580863 17353931,18029348,14702039,10814725,12477932 56751 NM_020064,AJ237816,AL354735,CH471090,AF321618,AF325688,AK054797,BC136956,BC136969,BC144433 NP_064448,CAB92439,CAI16566,EAW88005,AAK52674,AAG50279,BAB70807,AAI36957,AAI36970,AAI44434,Q5T6V2,Q9BZE3 Hs.283809 barH-like 1 homeobox protein protein-coding 1344726 BARHL2 BarH-like homeobox 2 1580863 15489334,12477932,10814725 343472 NM_020063,AC092805,AJ251753,CH471097,AY338397,BC126439,BC126441 NP_064447,CAB92440,EAW73123,AAQ01189,AAI26440,AAI26442,Q9NY43 Hs.451956 barH-like 2 homeobox protein protein-coding 1322041 BARX1 BARX homeobox 1 This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq] 1580863 10995576,18978678,17486624,12477932,18708738,20634891 56033 NM_021570,AL357073,CH471089,AF213356,BC009458,BC064363,CR592249 NP_067545,CAQ06883,CAQ06884,EAW62873,AAG23738,AAH09458,AAH64363,Q9HBU1 Hs.164960 BarH-like homeobox 1|OTTHUMP00000197307|homeobox protein BarH-like 1 protein-coding 1350102 BARX2 BARX homeobox 2 This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq] 1580863 14744868,14702039,12477932,11278942,10854790,10644443,9122247,20634891 8538 NM_003658,AF171222,AP003775,CH471065,AF031924,AJ243512,AK022187,BC069378,BC111432,BC111572 NP_003649,AAF09453,EAW67743,AAC04705,CAB50736,AAH69378,AAI11433,AAI11573,Q9UMQ3 Hs.591944 MGC133368|MGC133369 BarH-like homeobox 2|homeobox protein BarH-like 2 protein-coding 2303462 BASE breast cancer and salivary gland expression gene 18172302,17362520,15489334,14739326,12538848,12477932,11780052 317716 NR_026760,AL121901,CH471077,AY180924,AY389991,AY389992,BC069128,BC069315,BC128240,BC128241 AAO17728,EAW76334 Hs.434194 RP11-49G10.8 pseudo 1347703 BASP1 brain abundant, membrane attached signal protein 1 This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. [provided by RefSeq] 1580863 9749536,19376485,18949357,18268500,17081983,15489334,14701728,12477932,10965107,9310187,19050011,19956849 10409 AC026785,AC091878,CH471102,CS300636,AF039656,AK295995,AK314152,NM_006317,BC000518,BG704783,BM888431,BT019340,BT019341,CR609916,CR613035 NP_006308,EAX08012,EAX08013,CAK32300,AAC67374,BAG58770,AAH00518,AAV38147,AAV38148,P80723,ABM85492,ABW03753 Hs.201641 CAP-23|CAP23|MGC8555|NAP-22|NAP22 22 kDa neuronal tissue-enriched acidic protein|brain acid soluble protein 1|brain acid-soluble protein 1|neuronal axonal membrane protein NAP-22|neuronal tissue-enriched acidic protein protein-coding 4889636 BASP1P1 brain abundant, membrane attached signal protein 1 pseudogene 1 19376485 646201 AI624948,AL157931,NR_033774 pseudo 737407 BAT1 HLA-B associated transcript 1 This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and also plays an important role in mRNA export from the nucleus to the cytoplasm. A cluster of genes, BAT1-BAT5, is localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 727748,1580863 7601445,14667819,15047853,19403039,19264631,19115949,18987644,18834321,18715507,18593880,18411249,18381799,18240960,17562711,17517687,16949217,16478985,16169070,16101831,15998806,15969671,15843211,15635413,15585580,15489334,15338056,15324660,15296731,15028669,14574404,14559993,12944400,12477932,11979277,11790298,11675789,11380625,11170743,10343160,9373149,9242493,8012384,2911734,2813433,14499622,20610707,8125298,19913121,20628086,15833825,15870275,17190602,18974867,19836239,19851445,20116367,20379614,20453000,20854863,20933106 727748 7919 NM_004640,NM_080598,AB088115,AB103621,AB202112,AF029061,AF029062,AL662801,AL662847,BA000025,BX001040,BX248516,BX927320,CH471081,CR753820,CR753864,CT009531,Y14768,Z60417,AB209217,AK127767,AK222912,AK294939,AK295634,AK295854,AK298194,AK316469,BC000361,BC013006,BT009909,BU628632,CR590279,CR591582,CR592436,CR596330,CR600093,CR601722,CR606599,CR608752,CR612427,CR612476,CR614717,CR618145,CR620111,CR623314,CR625065,Z37166 Q5STA2,Q5STU1,Q5STU2,Q5STU3,Q5STU9,Q7KYK3,ABM82807,ABM85993,NP_004631,NP_542165,BAC54953,BAF31287,BAE78637,AAB94615,AAC63046,CAI18279,CAI18280,CAI18281,CAI18282,CAI18283,CAI18284,CAI18285,CAI18286,CAI17664,CAI17665,CAI17670,CAI17672,BAB63306,CAI18634,CAI18636,CAI18638,CAI41922,CAI41924,CAI41927,CAM25876,CAQ09974,CAQ09975,CAQ09976,EAX03404,EAX03406,EAX03407,EAX03408,EAX03409,EAX03410,EAX03411,CAI41923,EAX03413,CAQ07176,CAQ07177,CAQ07178,CAQ10634,CAQ10635,CAQ10636,CAQ09735,CAQ09736,CAQ09737,CAQ09738,CAQ09739,CAQ09740,CAQ09741,CAA75074,BAD92454,BAD96632,BAG58016,BAG58508,BAG58660,BAG60464,BAH14840,AAH00361,AAH13006,AAP88911,CAA85523,Q13838,Q59G92,Q5HYT6,Q5HYT9,Q5HYU0,Q5RJ61,Q5RJ65,Q5STA0 Hs.254042 D6S81E|DDX39B|UAP56 56 kDa U2AF65-associated protein|ATP-dependent RNA helicase p47|DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B|DEAD box protein UAP56|DEAD-box protein UAP56|HLA-B-associated transcript 1 protein|OTTHUMP00000029231|OTTHUMP00000165890|U2AF65-associated protein 56|hla-b-associated transcript 1a|nuclear RNA helicase (DEAD family)|spliceosome RNA helicase BAT1 protein-coding 1350670 BAT2 HLA-B associated transcript 2 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. [provided by RefSeq] 1580863,2306964,2306963 14667819,16713569,19143821,19116923,19115949,19039607,19023099,18835879,17975119,17827388,17081983,16964243,16116311,16083285,15842729,15752841,15489334,15302935,15077289,14656967,14574404,12477932,11556964,10987645,10949724,8889548,8499947,2813433,2156268,20616199,20587610,20626023,19615732,19851445,20098615,20205591 2306964,2306963 7916 AK302756,AK309774,BC030127,BC032134,BC042295,BC060668,BG423867,BM555411,BU684558,BX474290,CR591545,CR594210,CR749245,DC345271,M31293,M33509,AA969275,AI989927,NM_004638,AF129756,AL662801,AL662847,AL805934,BA000025,BX511262,CH471081,M33512,M33518,Z15025,AA909001,AB210034,AF075059,AI383939,AK297210,AK298584,NM_080686,BX248305,CR354443,CR753892,CR759761 BAG63968,AAH30127,AAH32134,AAH42295,AAH60668,CAH18101,AAA35585,P48634,NP_004629,NP_542417,AAD18086,CAI18313,CAI17698,CAI18500,BAB63391,CAI95572,EAX03448,EAX03449,EAX03450,EAX03451,EAX03452,AAA35586,CAA78744,BAE06116,BAG59694,BAG60774,CAQ06959,CAQ06970,CAQ10847 Hs.123239,Hs.436093 BAT2|D6S51|D6S51E|DKFZp686D09175|G2 HLA-B associated transcript 2|HLA-B-associated transcript 2|large proline-rich protein BAT2|protein G2 protein-coding 1351775 BAT2D1 BAT2 domain containing 1 17577209,20379614,15747776,12477932,12443540,14702039,10470851,16712791 23215 AL021579,AL049762,CH471067,AB029019,AF253978,AF488829,AK000190,AK022492,AK095231,AK124374,AK297263,AK298887,AK304841,AL096857,AL133635,AL162004,BC001260,BC006090,BC026108,BC045713,BC058930,BC066968,CB158511,NM_015172,HI573960 NP_055987,EAW90898,EAW90899,EAW90900,EAW90901,EAW90902,BAA83048,AAG44627,AAO49478,BAA90997,BAB14056,BAG59739,BAG61000,BAG65584,CAB51071,CAB63759,CAB82345,AAH06090,AAH45713,AAH58930,Q9Y520,CBX47469 Hs.494614 BAT2-iso|BAT2D1|BAT2L2|XTP2 BAT2 domain containing 1|BAT2 domain-containing protein 1|HBV X-transactivated gene 2 protein|HBV XAg-transactivated protein 2|HBxAg transactivated protein 2|HLA-B associated transcript 2-like 2|HLA-B-associated transcript 2-like 2|OTTHUMP00000213041|OTTHUMP00000213044|protein BAT2-like 2 protein-coding 1346299 BAT2L HLA-B associated transcript 2-like 737633 17203973,17081983,16189514,15489334,15164053,15146197,14702039,12477932,9628581,16713569,19615732 737633 84726 AL354855,AL358781,AB011087,AK025675,AK026025,AK026162,AK055916,AK303507,AK304849,AK309879,AL050142,AL137365,NM_013318,AY700780,BC002872,BC002969,BC012289,BC012451,BX647528,BX647842,CN369737,CR597308,CR612608,CR749818,CR933661 NP_037450,CAI40214,CAI40215,CAI40216,CAI40217,CAI40218,BAA25441,BAB15380,BAG64539,BAG65589,AAU10087,AAH02872,AAH02969,AAH12289,CAH18678,CAI45959,O95209,Q5H9R5,Q5JSZ5,Q5JSZ8,Q5JSZ9,Q5JT00,Q9BU09,Q9BU62 Hs.495349 BAT2L|BAT2L1|DKFZp781F05101|DKFZp781K12107|KIAA0515|LQFBS-1|MGC10526|RP11-334J6.1 HLA-B associated transcript 2-like 1|HLA-B-associated transcript 2-like 1|OTTHUMP00000022414|protein BAT2-like 1 protein-coding 2793691 BAT2L2P1 HLA-B associated transcript 2-like 2 pseudogene 1 12815422,9847074 360018 AC019058,NG_002936 BAT2D1P1|BAT2L2P1 pseudo 733092 BAT3 HLA-B associated transcript 3 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 14667819,15231747,17353931,19115949,19018758,18978787,18852879,18835879,18765639,18757527,18056262,18055229,17672918,17403783,17081983,16964243,16954377,16777091,16713569,16189514,16169070,15489334,15302935,15231748,14960581,14656967,14574404,12477932,11587531,11584289,11230127,10390159,2911734,2813433,2156268,1684176,15451437,16344560,20800603,19913121,20587610,20626023,20628086,17643375,19242354,19357808,19615732,19654303,19836008,19837266,19851445,19955392,20098615,20106900,20385987,20453000,20516149,20713601 7917 AL670886,AL805934,BA000025,BX511262,CH471081,M33520,M33521,AK302695,AK304879,BC003133,BF515863,BX384328,BX647244,CR595238,CR620621,CX758454,DB454794,DB459208,DB492350,M33519,AU134255,BU628873,NM_001199697,NM_001199698,NM_004639,NM_080702,NM_001098534,AF129756,AL662801,AL662847,NM_080703,CR354443,CR753842,CR753892,CR759761 CAO72104,CAO72105,CAO72106,CAI17784,CAI17785,CAI17786,CAI17787,CAI18501,CAI18503,CAI18504,CAI18505,CAI18506,CAI18508,CAI18509,CAO03653,CAO03654,CAO03655,CAO03656,CAO03657,CAO03658,CAO03659,CAO03660,CAO03661,CAO03662,CAO03663,CAO03664,CAO03665,BAB63390,CAM45799,CAM45800,EAX03453,EAX03454,EAX03455,EAX03456,EAX03457,EAX03458,EAX03459,EAX03460,AAA35588,CAO72103,BAG63924,BAG65616,AAH03133,CAI46045,AAA35587,P46379,Q5SQ39,Q5SQ40,Q5SQ42,Q5SRP7,Q5STB9,Q5STC0,NP_001186626,NP_001186627,NP_542434,NP_004630,NP_542433,NP_001092004,AAD18085,CAI18314,CAI18315,CAI18316,CAI18318,CAM25589,CAM25590,CAM25591,CAM25592,CAM25593,CAM25594,CAM25595,CAM25596,CAM25597,CAM25598,CAM25599,CAM25600,CAM25601,CAM25602,CAM25603,CAM25604,CAI17658,CAI17659,CAI17660,CAI17661,CAO72102,CAQ06543,CAQ06544,CAQ06971,CAQ06972,CAQ06973,CAQ06974,CAQ06975,CAQ06976,CAQ06977,CAQ06978,CAQ06979,CAQ06980,CAQ06981,CAQ06982,CAQ06983,CAQ06984,CAQ06985,CAQ06986,CAQ06987,CAQ06988,CAQ06989,CAQ06990 Hs.440900 BAG-6|BAG6|BAT3|D6S52E|G3 BAG family molecular chaperone regulator 6|HLA-B associated transcript 3|HLA-B associated transcript-3|HLA-B-associated transcript 3|hla-b-associated transcript 3|large proline-rich protein BAT3|protein G3|protein Scythe|scythe protein-coding 1321766 BAT4 HLA-B associated transcript 4 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. [provided by RefSeq] 1580863 18029348,19115949,18835879,16189514,15489334,14702039,14656967,14574404,12477932,2911734,2813433,19913121,20628086,19851445,20453000,16344560 7918 NM_033177,AF129756,AL662899,AL670886,AL805934,BA000025,CH471081,CR354443,CR759761,AF087962,AJ420471,AK123707,AK314056,BC008783,BC018875,CR594031,CR596414,CR598749,CR601462,CR602237,CR603430,CR605292,CR605834,CR609986,CR612576,CR618833,CR622551,CR626322,BX511262,CR753842,DA368924,NM_001199237,NM_001199238,NM_001199239,NM_001199240 NP_149417,AAD18082,CAI18385,CAI17792,CAI17796,CAI18515,CAI18518,BAB63387,EAX03467,EAX03468,EAX03469,EAX03470,EAX03471,CAQ06995,CAQ10872,BAG36763,AAH08783,O95872,Q5SQ56,Q5SRQ8,ABM83602,ABM86844,NP_001186166,NP_001186167,NP_001186168,NP_001186169 Hs.247478 ANKRD59|BAT4|D6S54E|G5|GPANK1|GPATCH10 G patch domain and ankyrin repeats 1|G patch domain containing 10|HLA-B associated transcript-4|HLA-B-associated transcript 4|ankyrin repeat domain 59|ankyrin repeat domain-containing protein 59|g patch domain-containing protein 10|protein BAT4|protein G5 protein-coding 1351609 BAT5 HLA-B associated transcript 5 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. [provided by RefSeq] 1580863 14667819,15231747,19116923,19115949,18835879,15498874,15489334,14702039,14656967,14574404,12665801,12477932,2911734,2813433,20626023,21044367,15342556,19423540,19851445,20406964,20438785 7920 NM_021160,AF129756,AL662899,AL670886,AL805934,BA000025,CH471081,AF193047,AK001207,AK023194,AK025398,AK055255,AK289469,AK297712,AK303496,AK308573,BC031839,CR591644,CR596175,CR598091,CR603472,CR604526,CR608283,CR615758,AI076373,BE272017,BP261875,BX248244,BX511262,CR354443,CR753842,CR759761,CR759787,DC318775,DC360732,NM_001177515,NR_033488,NR_033489 NP_066983,AAD18079,CAI18401,CAM25666,CAI17808,CAM25029,CAI18530,CAO03670,BAB63383,EAX03482,EAX03483,EAX03484,AAG22475,BAA91553,BAB14455,BAG51491,BAF82158,BAH12652,BAH13975,AAH31839,O95870,ABM82251,ABM85435,NP_001170986 Hs.388188 BAT5|D6S82E|NG26|PP199 HLA-B associated transcript 5|protein BAT5|protein G5 protein-coding 1312643 BATF basic leucine zipper transcription factor, ATF-like The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. 1580863 20453842,8570175,8630063,16189514,15489334,12809553,12719594,12594265,12508121,12477932,10777209,9745044,8954125,15342556,20890291 10538 NM_006399,AC007182,AF016898,CH471061,BC032294,D42106,U15460,BP235761 NP_006390,AAD51372,AAC78243,EAW81234,AAH32294,BAA07686,AAC50314,Q16520 Hs.509964 B-ATF|BATF1|SFA-2|SFA2 B-cell-activating transcription factor|SF-HT-activated gene 2 protein|activating transcription factor B|basic leucine zipper transcriptional factor ATF-like protein-coding 1602989 BATF2 basic leucine zipper transcription factor, ATF-like 2 19074269,16713569,16189514,14702039,12477932,20531301,19060904 116071 HM134154,NM_138456,AP000436,CH471076,AK092453,AK092761,AK096702,AK300917,BC011931,BC012330,CR612726 ADJ55304,NP_612465,EAW74330,EAW74331,BAC03894,BAC03968,BAC04846,BAG62549,AAH12330,Q8N1L9 Hs.124840 MGC20410|SARI B-ATF-2|basic leucine zipper transcriptional factor ATF-like 2|suppressor of AP-1 regulated by IFN protein-coding 1602111 BATF3 basic leucine zipper transcription factor, ATF-like 3 This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription. 10878360,15467742,14702039,12805554,12477932,12087103,11329013,12650714 55509 NM_018664,AL591647,CH471100,AF255346,AK093671,AK094854,BC117489,BC117491,BG184570 NP_061134,CAI17048,EAW93381,AAF73966,AAI17490,AAI17492,Q9NR55,ADR82815 Hs.62919 FLJ36352|FLJ37535|JDP1|JUNDM1|SNFT 21 kDa small nuclear factor isolated from T-cells|21-kD small nuclear factor isolated from T cells|B-ATF-3|Jun dimerization protein 1|Jun dimerization protein p21SNFT|basic leucine zipper transcriptional factor ATF-like 3 protein-coding 70373 BAX BCL2-associated X protein The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq] 1579966,1643353,1643354,1643355,2293026,2293073,1643352,1643356,2292907,2313963,2314021,2311240,2314140,2290557,2296025,2313998,2296023,2313975,2291908,734633,734634,734632,1300048,1579984 14980220,9130713,15705586,17052454,14522999,9111042,16608847,15214043,16424160,15073604,11350920,9843949,16462759,10702418,12499352,14769861,15637643,16307838,10739008,10629050,11912183,11136736,19573080,19541585,19463775,19453261,19439472,19429011,19380879,19376889,19360919,19336552,19278624,19266703,19265193,19237173,19228953,19221769,19196429,19177010,19157504,19150424,19141860,19125733,19101510,19074885,19074440,19056676,19054058,19031258,18979557,18974096,18948948,11759062,11759059,11642719,11574543,11571294,11437653,11283018,11278245,11259440,11175336,11175251,11161816,11106734,11060313,10908576,10854321,10837489,10772918,10753914,10620603,10437917,10365962,10200447,9988273,9920818,9748162,9742125,9565621,9531611,9463381,9449720,9153240,9027312,9020077,8961277,8889548,8760290,8580080,8521816,8358790,7834749,7607685,7566098,15033690,11602639,10942389,15555592,16235026,10381646,15637055,12070120,12137781,9824152,15231068,18941118,18936968,18925695,18840646,18818304,18818203,18814044,18813857,18812638,18793611,18772168,18705844,18705408,18695676,18692524,18676680,18676372,18670882,18665919,18651223,18651163,18644472,18642056,18636124,18594472,18590778,18590739,18568448,18563851,18546202,18534994,18511705,18508723,18494554,18481805,18474606,18472157,18472156,18462830,18454316,18453545,18449500,18445700,18415689,18415681,18395515,18390829,18375382,18362892,18362350,18344566,18331646,18307410,18299329,18299320,18282575,18259191,18259190,18258596,18251703,18240345,18223689,18214681,18211414,18195012,18193434,18178565,18177350,18160666,18158779,18089567,18074738,18059532,18054155,18034190,18023359,18019411,18006836,18006817,18006502,17997990,17996028,17993285,17990907,17981213,17978676,17927572,17927446,17912641,17911107,17905238,17900801,17880809,17855051,17693666,17686764,17676485,17668322,17666167,17635912,17635522,17634542,17575222,17562177,17556360,17535899,17534116,17525161,17519046,17513609,17509221,17499214,17496930,17494694,17486058,17438390,17438366,17426704,17404017,17395004,17390059,17388661,17346710,17335847,17289842,17235284,17213822,17203211,17203183,17171827,17140287,17118768,17107772,14963330,14767525,14766748,14730312,14719078,14716828,14714449,14704000,14698203,14681224,14661970,14647455,14647416,14634023,14631373,14628086,14612938,14612448,14606101,14596892,14559989,14550297,12970744,12963997,12917444,12907654,12853473,12837286,12816867,12808108,12782632,12767928,12749011,12743423,12737446,12732850,12606781,12592374,12583439,12579342,12575534,12510156,12496485,12490315,12481899,12477932,12477729,12454021,12445631,12439925,12426317,12419244,12408758,12393884,12393866,12389125,12388688,12359369,12270344,12215842,12215338,12214154,12193163,12189556,12176904,12169275,12165421,12161031,12151395,12082629,12070030,12058280,12036888,12032841,12025227,12023951,11997495,11994280,11992551,11949842,11943780,11932420,11929871,11922616,11912124,11911971,11909872,11899739,11894116,11875499,11869962,11867266,11852106,11850816,11842081,11839683,11839668,11787859,11782443,17091766,17084966,17074758,17067385,17015762,17015472,16987815,16949642,16946732,16874066,16855163,16832704,16830365,16810067,16709574,16645094,16642033,16611260,16603637,16575548,16572399,16568093,16552754,16538501,16518869,16485142,16479009,16472763,16443387,16436379,16410245,16380996,16344548,16307023,16246184,16229013,16215676,16186627,16172118,16172114,16151013,16148027,16139338,16132718,16113678,16085058,16010425,15962362,15949439,15901672,15889622,15846375,15843890,15832769,15830715,15806163,15782132,15773546,15770735,15767261,15764647,15757910,15743760,15743033,15735709,15735127,15694358,15688029,15657356,15655830,15642728,15638363,15613549,15574335,15516208,15489334,15484294,15467752,15459197,15383280,15375604,15375594,15351796,15322047,15314639,15304079,15302859,15298965,15292938,15262986,15258908,15158440,15149158,15148411,15096513,15037603,15024076,14971737,11251969,18029348,19062087,20819778,20855536,20877624,20959405,21048031,20584903,20850011,20683914,21115898,21123558,10620799,11742726,17897954,12901880,11850803,16009130,15893728,15710329,14752512,9372935,15607964,19745831,18664350,20565851,20200776,12839682,15077116,15131699,17097560,17274640,17626754,17643375,17823127,18718060,18835031,19170196,19351510,19363595,19439449,19481066,19494020,19564333,19587033,19625176,19629483,19655415,19657228,19660860,19680558,19692168,19692349,19700502,19723045,19729672,19737817,19773279,19801665,19805544,19809877,19846939,19875445,19880508,19888426,19895710,19898928,19931389,19937732,19938958,19955813,19956635,19968986,20015862,20045442,20075864,20101465,20130137,20180421,20308427,20333643,20346360,20360684,20382739,20453000,20485298,20627094,20728382,21070973,20140092,19913121,20628086,20644561,20723427,20561923 1579966,1643353,1643354,1643355,2293026,2293073,1643352,1643356,2292907,2313963,2314021,2311240,2314140,2290557,2296025,2313998,2296023,2313975,2291908,734633,734634,734632,1579984 581 AF247393,AF250190,AI565203,AJ417988,AJ586909,AJ586910,AK291076,BC014175,BE396495,BM706954,CR595189,L22473,L22474,L22475,U19599,NM_138764,NM_138761,NM_138763,NM_004324,NG_012191,NR_027882,AC026803,AF008195,AF008196,AF020360,AF339054,AY217036,CH471177,AF007826 AAF71267,AAF82094,CAD10744,CAE52909,CAE52910,BAF83765,AAH14175,AAA03619,AAA03620,AAA03621,AAC50142,O95074,Q07812,Q5ZPJ0,Q5ZPJ1,Q8WXU1,Q9UEI8,NP_620119,NP_620116,NP_620118,NP_004315,AAD01415,AAD01416,AAL73333,AAO22992,EAW52415,EAW52416,EAW52417,EAW52418,EAW52419,EAW52420,EAW52421,AAD22706 Hs.624291 BCL2L4 OTTHUMP00000218294|apoptosis regulator BAX|bcl-2-like protein 4|bcl2-L-4 protein-coding 1314679 BAZ1A bromodomain adjacent to zinc finger domain, 1A 1580863 17519354,17081983,16877760,14702039,12477932,10880450,10662543,10655480,11980720,12374985,12198550,15780937,15231748,19450608,20033039,20379614,19394292,21172662 11177 NM_182648,NM_013448,AL121603,AL355885,CH471078,AB032252,AB209255,AF086397,AF161435,AF213467,AF221130,AK027289,AL050089,BC020636,BC108711,CB217757,HI574156,HI574158 NP_872589,NP_038476,EAW65900,EAW65901,EAW65902,EAW65903,EAW65904,EAW65905,BAA89209,BAD92492,AAF28995,AAF70601,AAF32366,BAG51300,CAB43261,AAH20636,AAI08712,Q05CW0,Q32ND1,Q59G54,Q9NRL2,AAI56492,CBX47567,CBX47568 Hs.509140 ACF1|DKFZp586E0518|FLJ14383|WALp1|WCRF180|hACF1 ATP-dependent chromatin remodeling protein|ATP-dependent chromatin-remodeling protein|ATP-utilizing chromatin assembly and remodeling factor 1|CHRAC subunit ACF1|OTTHUMP00000178813|bromodomain adjacent to zinc finger domain protein 1A|hWALp1|williams syndrome transcription factor-related chromatin-remodeling factor 180 protein-coding 1314248 BAZ1B bromodomain adjacent to zinc finger domain, 1B This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq] 1580863 16252006,19092802,11124022,17081983,16603771,16565220,16514417,15302935,15543136,14702039,12853948,12837248,12477932,11980720,10662543,9858827,9847074,9828126,18162579,20657596,15635413,20802025,20864672,20580033,20628086,16344560,19060906,19060911,19656773,19776015,19913121 9031 NG_027679,NM_032408,AC005074,AC005089,CH471200,AB032253,AF072810,AF084479,AK123274,BC041561,BC050599,BC065029,BC080544,BC136520,CR623422,BU632531,DA739467 NP_115784,AAD04720,AAP22332,EAW69679,EAW69680,EAW69681,BAA89210,AAC97879,AAD08675,AAH65029,AAI36521,Q9UIG0 Hs.647016 WBSCR10|WBSCR9|WSTF OTTHUMP00000197535|Williams-Beuren syndrome chromosome region 10|Williams-Beuren syndrome chromosome region 9|bromodomain adjacent to zinc finger domain protein 1B|hWALp2|transcription factor WSTF|tyrosine-protein kinase BAZ1B|williams syndrome transcription factor|williams-Beuren syndrome chromosomal region 10 protein|williams-Beuren syndrome chromosomal region 9 protein protein-coding 1312828 BAZ2A bromodomain adjacent to zinc finger domain, 2A 1580863 11532953,17672918,17081983,15489334,15302935,14702039,12477932,9205841,12198165,10662543,17474147,15292447,19578370 11176 AK023842,AK127775,AK303327,BC008965,BC065914,CD686304,CR612372,CR749379,AK023830,NM_013449,AC090681,CH471054,AB002312,AF000422 BAG51228,BAH13943,AAH08965,CAH18232,Q9UIF9,AAI52740,NP_038477,EAW96949,EAW96950,EAW96951,BAA20773,AAB60864 Hs.314263 DKFZp781B109|FLJ13768|FLJ13780|FLJ45876|KIAA0314|TIP5|WALp3 TTF-I interacting peptide 5|TTF-I-interacting protein 5|bromodomain adjacent to zinc finger domain protein 2A|hWALp3|transcription termination factor I-interacting protein 5 protein-coding 1320334 BAZ2B bromodomain adjacent to zinc finger domain, 2B 1580863 17081983,15489334,14702039,12477932,10819331,10662543,16189514,18482256,20802025 29994 AC008277,AC009506,CH471058,BX641037,BX647250,NM_013450,AB032255,AB040909,AK000386,AK027612,AK074895,AK127551,AK307683,AL080173,AL834381,BC012576,BC068527,BC107570 NP_038478,AAY24281,EAX11403,EAX11404,CAE46023,Q3B7K5,Q53TG3,Q6MZK7,Q8NC87,Q9UIF8,AAI56488,EAX11406,EAX11407,BAA89212,BAA96000,BAB55231,BAC11274,CAB45759,CAD39044,AAH12576,AAI07571,EAX11405 Hs.470369 DKFZp434H071|DKFZp762I0516|FLJ45644|WALp4 OTTHUMP00000162898|bromodomain adjacent to zinc finger domain protein 2B|hWALp4 protein-coding 735389 BBC3 BCL2 binding component 3 2314029,2313994,1580863 20413175,20421300,17934815,15721256,12477932,14702039,16697956,19421143,19439449,19444283,19641508,19660860,19679565,19737931,19815839,19851330,19966853,20075864,20206402,19638343,20478995,21044367,21048031,20430872,20813046,11463391,11463392,16608847,19587239,19380879,19064725,19028473,18941118,18835564,18811981,18579560,18573879,18367875,18354037,18324703,18215742,17996028,17616685,17393317,17388661,17368424,17360476,17267315,16983338,16462759,16151013,16091745,16007132,15905879,15731089,15731037,15694340,15595728,15574335,15547745,15143349,14634023,14585351,14550297,12963126,12574499,11572983,14993250,17011204,17698840,20419447,20418652 2314029,2313994 27113 NM_001127242,NM_001127241,NM_001127240,AC008532,CH471126,AF332558,AF354654,AF354655,AF354656,AK298837,BC136481,U82987,NM_014417,AK124984 AAB51243,NP_055232,NP_001120714,NP_001120713,NP_001120712,EAW57465,EAW57466,EAW57467,AAK31316,AAK39542,AAK39543,AAK39544,BAG60965,AAI36482,Q96PG8,Q9BXH1 Hs.467020 FLJ42994|JFY1|PUMA JFY-1|bcl-2-binding component 3|p53 up-regulated modulator of apoptosis protein-coding 732171 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq] 1300048,1580863 20599753,9753662,10526231,19240061,17110165,16344560,15489334,12477932,7156861,6497835,3378057,3110383,1962562,1735445,16169070,18029348,20379614,20877624 8424 NM_003986,AC015756,AC016450,CH471064,AF082868,AK290108,AK313422,BC011034,CR456812,DA268467,DQ471856,DQ471857,DQ471858,DQ471859,DQ471860,DQ471861,DQ471862,DQ471863,DQ471864,DQ471865,DQ471866,DQ471867,DQ471868,DQ471870 NP_003977,EAW68290,EAW68291,AAC64066,BAF82797,BAG36214,AAH11034,CAG33093,ABF17859,ABF17860,ABF17861,ABF17862,ABF17863,ABF17864,ABF17865,ABF17866,ABF17867,ABF17868,ABF17869,ABF17870,ABF17871,O75936,Q1KLS6,Q1KLT3,ABM83703,ABM87023,ACE87221 Hs.591996 BBH|BBOX|G-BBH|gamma-BBH gamma-butyrobetaine dioxygenase|gamma-butyrobetaine hydroxylase|gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 protein-coding 1316858 BBS1 Bardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq] 1601314,1579968,1579969 18000879,17980398,17574030,18766993,17065520,15517396,15489334,15314642,14993910,14702039,12837689,12677556,12567324,12524598,12477932,12118255,11096143,10577922,10577921,9039982,19077438,18669544,19615732,20801516 1601314,1579968,1579969 582 NM_024649,NG_009093,AP002748,CH471076,AF503941,AK027243,AK095638,AK294962,AK296311,AK302657,BC047642,BC109064,BC109065,BX647612,CR625482 NP_078925,EAW74542,AAM92770,BAB15704,BAG58036,BAG59009,BAG63895,AAH47642,AAI09065,AAI09066,CAI46060,Q32MM9,Q4G0L2,Q5HYI2,Q8NFJ9,Q9H5C3 Hs.502915 BBS2L2|FLJ23590|MGC126183|MGC126184|MGC51114 BBS2-like protein 2|Bardet-Biedl syndrome 1 protein protein-coding 1605944 BBS10 Bardet-Biedl syndrome 10 17980398,19190184,17101080,16823392,16582908,16344560,15489334,14702039,12477932,20827784,20472660,20801516,17106446,17160889,20193073,8125298,9373149 79738 NM_024685,AC117491,CH471054,AI673014,AK027213,AK304178,BC013795,BC026355,DA095453,DR155669,GN088052,AK225585,NG_016357 NP_078961,EAW97322,EAW97323,BAB15695,BAH14128,AAH13795,AAH26355,Q8TAM1,CAX86889 Hs.96322 C12orf58|FLJ23560 Bardet-Biedl syndrome 10 protein protein-coding 1603548 BBS12 Bardet-Biedl syndrome 12 19190184,17160889,14702039,12477932,20472660,20193073,20827784 166379 NM_152618,AC053545,CH471056,AK092949,AK123553,BC055426,BC065708,BX538148,CD359068,NG_021203,NM_001178007 NP_689831,EAX05223,EAX05224,BAC04006,BAC85644,AAH55426,CAD98035,Q6ZW61,NP_001171478 Hs.400698 C4orf24|FLJ35630|FLJ41559 Bardet-Biedl syndrome 12 protein|OTTHUMP00000196371 protein-coding 732435 BBS2 Bardet-Biedl syndrome 2 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins. 70665,1580863,734635,1601311,1579971 18000879,17574030,18299575,19077438,17003356,16344560,16189514,15489334,14702039,12872256,12837689,12677556,12567324,12477932,11567139,11285252,11096143,8889548,8298649,20801516,19666486,19913121,20628086 70665,734635,1601311,1579971 583 DB316257,NM_031885,NG_009312,AC009155,AC026461,AC092140,CH471092,AB208905,AF342736,AK027635,AK127290,AK289604,AK309068,AL834176,BC014140,BM982214,DA437930 Q59H54,Q8ND60,Q9BXC9,ABM83606,ABM86849,NP_114091,EAW82863,EAW82864,BAD92142,AAK28552,BAB55252,BAF82293,CAD38873,AAH14140 Hs.333738 BBS|MGC20703 Bardet-Biedl syndrome 2 protein|bardet-biedl syndrome 2 (human) protein-coding 1319306 BBS4 Bardet-Biedl syndrome 4 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified. 1601311,1579971 8889548,17574030,15107855,14520415,18299575,19077438,17003356,15497446,15489334,14702039,12872256,12477932,12365916,12016587,11381270,9126487,7711739,18000879,20379614,20508983,20801516 1601311,1579971 585 NG_009416,AC009712,CH471082,AF359281,AK075321,AK298922,AK302224,AK303706,AK310106,AK314507,AY457143,BC008923,NM_033028,BC027624,BI562463,BM664845,BX647855,CR594102,DC320069 NP_149017,EAW77912,EAW77913,AAK58868,BAC11547,BAG61027,BAH13654,BAG64690,BAG37107,AAS13441,AAH08923,AAH27624,Q96RK4,ABM82445,ABM85635 Hs.208681 Bardet-Biedl syndrome 4 protein protein-coding 1321789 BBS5 Bardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq] 1579974,1580863 17574030,11256614,19077438,18203199,16381901,15815621,15489336,15489334,15137946,14702039,12477932,11230166,11076863,10053027,9888993,8889549,20801516,15342556 1579974 129880 NM_152384,NG_011567,AC093899,CH471058,CS300753,AA043704,AK097935,AK312680,AL834305,AY604003,AY604004,BC044593,BP311042,CA336791,CD245392,H09195 NP_689597,AAY24116,EAX11276,EAX11277,EAX11278,EAX11279,CAK32417,CAD38975,AAT08182,AAT08183,AAH44593,Q8N3I7,CAL38098 Hs.233398 Bardet-Biedl syndrome 5 protein|OTTHUMP00000221822 protein-coding 1319511 BBS7 Bardet-Biedl syndrome 7 Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1579975 18000879,17574030,19402160,19093007,19077438,15815621,15489334,14702039,12567324,12477932,11567139,20801516 1579975 55212 NM_176824,NM_018190,NG_009111,AC079341,CH471056,AF521643,AF521644,AK001577,AK308076,AK309803,BC032691,BF431967,BG720664,BM998707,BQ940332 NP_789794,NP_060660,AAY40970,EAX05244,EAX05245,AAO16025,AAO16026,BAA91767,AAH32691,Q8IWZ6,ABM81814,ABM87809 Hs.591694 BBS2L1|FLJ10715 BBS2-like 1|BBS2-like protein 1|Bardet-Biedl syndrome 7 protein|OTTHUMP00000219992 2289563 BW441_H protein-coding 1603660 BBS9 Bardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 17574030,18349106,16380913,15489334,14702039,12690205,12618763,12477932,10221542,18029348,20801516,20161521,20379614 27241 NM_001033605,NM_001033604,NM_014451,NG_009306,AACC02000103,AC006195,AC007312,AC074338,AC078833,AC087070,CH471073,U85997,AF095769,AF095770,AF095771,AK057660,AK091361,AK297436,AK314627,AL704922,BC032715,BC103831,NM_198428,BI254810,BX647385,U85994,U85995,U87408 NP_940820,NP_001028777,NP_001028776,NP_055266,EAL24466,EAL24467,EAW94015,EAW94016,EAW94017,EAW94018,AAB46606,AAD25980,AAD25981,BAG51948,BAG52340,BAG59863,AAH32715,AAI03832,AAB61918,AAB61919,AAB47568,Q3SYG4 Hs.372360 B1|C18|D1|MGC118917|PTHB1 OTTHUMP00000202918|PTH-responsive osteosarcoma B1 protein|bardet-Biedl syndrome 9 protein|parathyroid hormone-responsive B1 gene protein|protein PTHB1 protein-coding 1320282 BBX bobby sox homolog (Drosophila) 1580863 19240061,16344560,15728473,15489334,14702039,12477932,9110174,8889548,8619474,11680820,11230166,19247474 56987 NM_020235,AC068765,AC072044,AC117477,CH471052,AF052174,AF161457,AF168718,AF276948,NM_001142568,AF276949,AF283775,AF454941,AF454942,AK025944,AK026082,AK057010,AK130627,AK291757,AK307668,AK314434,AL136769,AL834307,BC012837,BC110903,BC131718,CN479047,DA218136 NP_001136040,NP_064620,EAW79738,EAW79739,EAW79740,EAW79741,EAW79742,EAW79743,AAF29017,AAF87320,AAL68984,AAL68985,AAL58870,AAL58871,BAB15290,BAB15355,BAC85398,BAF84446,CAB66703,CAD38977,AAH12837,AAI10904,AAI31719,Q6ZNU6,Q8WY36,Q9H6A7,Q9H6G9,Q9NRU5,Q9P043,ACE87532,ACE86845 Hs.124366 HBP2|HSPC339|MDS001 HMG box transcription factor BBX|HMG box-containing protein 2|OTTHUMP00000197190|OTTHUMP00000197192|x 001 protein protein-coding 68545 BCAM basal cell adhesion molecule (Lutheran blood group) Lutheran blood group glycoprotein is a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five, N-terminus, extracellular immunoglobulin domains, a single transmembrane domain, and a short, C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16236823,7954395,7777537,9166867,19201739,19065527,18815288,18635166,18514010,18510579,18302987,18067501,17638854,16584446,16335952,15790807,15489334,15278364,15238148,14755370,14641871,12754519,12493773,12477932,12244066,11319237,11133776,9642222,9192786,8781446,2907851,20655789,18972067,19667067,20370913 4059 NM_005581,NM_001013257,NG_007480,AC092306,AY845133,CH471126,AY927517,BC036745,BC050450,BU838291,BX387680,CR611746,X80026,X83425 NP_005572,NP_001013275,AAV88096,EAW57294,EAW57295,EAW57296,EAW57297,AAH50450,CAA56327,CAA58449,P50895 Hs.625725 AU|CD239|LU|MSK19 Auberger b antigen|B-CAM cell surface glycoprotein|B-cell adhesion molecule|F8/G253 antigen|antigen identified by monoclonal antibody F8|basal cell adhesion molecule|basal cell adhesion molecule (Lu and Au blood groups)|glycoprotein 95kDa|lutheran antigen|lutheran blood group glycoprotein protein-coding 736888 BCAN brevican 18029348,16133547,16061654,15489334,14741698,14702039,14550776,14522884,12975309,12477932,11873941,11054543,11038354,10986281,9294172,7592978,18611854,19910543,20950796 63827 AL590666,CH471121,AB209570,NM_198427,AL365181,NM_021948,AF229053,AK126588,AK289759,AL137504,AW298823,AY007241,AY358372,BC005081,BC009117,BC010117,BC010571,BC013234,BC022938,BC023209,BC027971,BC029313,BC029348,BC035457,AF228710 CAI13057,CAI13058,CAI13059,CAI13060,CAI16352,EAW52927,EAW52928,EAW52929,EAW52930,EAW52931,BAD92807,NP_068767,NP_940819,CAI13056,AAG23134,AAG23135,BAF82448,CAB70776,AAG01897,AAQ88738,AAH09117,AAH22938,AAH27971,Q59F90,Q5T3I7,Q5T3I8,Q8IWX2,Q96GW7,Q9NT67 Hs.516904,Hs.663621 BEHAB|CSPG7|MGC13038 brain-enriched hyaluronan-binding protein|brevican core protein|brevican proteoglycan|chondroitin sulfate proteoglycan 7|chondroitin sulfate proteoglycan BEHAB|chondroitin sulfate proteoglycan BEHAB/brevican protein-coding 1347055 BCAP29 B-cell receptor-associated protein 29 737633,1580863 20677014,15342556,14702039,12886015,12853948,12477932,11591653,10931946,10737800,8889548,21068099,18097552,16344560,15489334,20237496 737633 55973 NM_001008405,NM_018844,NR_027830,AC004839,AC078937,CH236947,CH471070,AA826200,AF126020,AI684765,AK000878,AK289401,AK294824,AK298594,AW978976,AW994087,BC008478,BE006248,BF434482,BG616638,BQ188814,BQ230678,BT006981,BX101190,BX457671,BX647653,CK820004,CR596696,CR611322,CR612097,CR623571,DA569360,DA717500,EB388415,H40966,BG776708,BG818947,BM023571,BM931263,BP261060 NP_001008405,NP_061332,AAC83971,EAL24390,EAW83405,EAW83406,EAW83407,EAW83408,EAW83409,EAW83410,EAW83411,AAF17230,BAF82090,BAH11896,BAH12820,AAH08478,AAP35627,Q9UHQ4 Hs.303787,Hs.724108 BAP29|DKFZp686M2086|FLJ53907 B-cell receptor-associated protein 29|BCR-associated protein 29|OTTHUMP00000206634|OTTHUMP00000214583|OTTHUMP00000214585|OTTHUMP00000214586 protein-coding 1349319 BCAP31 B-cell receptor-associated protein 31 This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in the caspase 8-mediated apoptosis. Microdeletions in this gene are associated with the contiguous ABCD1/DXS1375E deletion syndrome. Two pseudogenes have been identified on chromosome 16. Alternatively spliced transcript variants encoding distinct isoforms have been described although the biological validity of some of the variants has not been determined. [provided by RefSeq] 1580863 8706661,18684816,18555783,18287538,17056546,16858427,16381901,16344560,15772651,15489336,15489334,15294914,15254227,15024066,14702039,12886015,12668660,12594175,12529377,12477932,11992258,11917123,11851433,11561007,11163199,11076863,11042173,10958671,9396746,9373149,9334338,8612576,8125298,7945388,7806238,18029348 10134 NR_024450,NM_005745,NM_001139441,NM_001139457,CH471172,U36341,AI123868,AK057613,AK125631,AK222494,AK223059,AU132745,BC014323,BC065292,BE729820,BG779815,BX474419,CR590688,CR598248,CR598532,CR599050,CR600013,CR601112,CR601278,CR602088,CR610622,CR613288,CR621857,CR626431,CX164660,DA134013,DA819112,X81109,Z31696,NG_023231 NP_005736,NP_001132913,NP_001132929,EAW72818,EAW72819,EAW72820,EAW72821,EAW72822,EAW72823,EAW72824,EAW72825,AAA79508,BAG51941,BAG54226,BAD96214,BAD96779,AAH14323,AAH65292,CAA57015,CAA83501,P51572,Q53G72,Q53HT6,CAL37717 Hs.522817 6C6-AG|BAP31|CDM|DXS1357E 6C6-AG tumor-associated antigen|B-cell receptor-associated protein 31|BCR-associated protein Bap31|OTTHUMP00000025978|OTTHUMP00000025979|OTTHUMP00000025980|OTTHUMP00000025981|OTTHUMP00000025983|p28 Bap31 protein-coding 734116 BCAR1 breast cancer anti-estrogen resistance 1 BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM] 734988,1579979 10208419,10320483,11181995,12119061,12618476,15020686,15588985,15866871,16020549,16099422,16344560,16413489,16581250,17474147,19412734,19822523,19844255,19940159,7479864,8889548,8978305,9360968,9759889,9020138,9472046,10026197,16245368,9285683,10092204,9295052,10675905,10639512,11607844,19357231,19331827,19330798,19329671,19086031,19029090,18842495,18725541,18321991,18164686,18095869,18078823,17982677,17616674,17251438,17129785,17081983,17038317,16964243,16644720,16597701,16440329,16212419,16040804,15951569,15923424,15784259,15592455,15448007,15121874,14702039,12972425,12738793,12615911,9748234,10339567,10587647,11782456,14688263,16105984,8070403,8649368,12601080,12529399,12477932,12397603,12135674,11820787,11779709,11593413,11577104,11514617,11493697,11278335,11158326,11146654,11113628,11071869,10822386,10801330,10799562,10787408,10753828,10739664,10712510,10639513,10187783,10093970,9697683,9621077,9581808,9425168,9360983,9188452,8995252,8940134,8887669,8700507,8413311,8810278,8649427,9498705,15492270,16267043,20688056,19732724,14657239,11369773,10329689,10085298,9920935,7780740,8999909,10692442,12819203,12446789,12517963,10487518,12714323,9748319,11432831,10502414,11036077,16169070,15778465,9366405,8668148,15728191,9148935 734988,1579979 9564 AK127004,BU730553,DA418642,DC310094,DC317947,NM_001170714,NM_001170715,NM_001170716,NM_001170717,NM_001170718,NM_001170719,NM_001170720,NM_001170721,NM_014567,AC009078,CH471114,AB040024,AF218451,AJ242987,AK026121,AK027608,AK074958,AK124526,AK124815,AK124844,AK125719,AK293808,AK294513,AK295809,AK314722,AY545071,BC014402,BC062556,CR622696,AK302617 NP_001164185,NP_001164186,NP_001164187,NP_001164188,NP_001164189,NP_001164190,NP_001164191,NP_001164192,NP_055382,EAW95651,EAW95652,EAW95653,EAW95654,EAW95655,EAW95656,BAA92711,AAF27527,CAB75875,BAB55230,BAC11315,BAG54047,BAG54099,BAG54104,BAG54238,BAG57215,BAG57726,BAG58627,BAH13763,BAG37266,AAS48631,AAH14402,AAH62556,P56945,Q6P5Z4,Q6QEF7,Q8NC57,Q96CD4,ACE87091,ACE86415 Hs.479747 CAS|CAS1|CASS1|CRKAS|FLJ12176|FLJ45059|P130Cas Cas scaffolding protein family member 1|Crk-associated substrate p130Cas|OTTHUMP00000174941|breast cancer anti-estrogen resistance protein 1|v-crk-associated tyrosine kinase substrate protein-coding 1349826 BCAR2 breast cancer anti-estrogen resistance 2 9259413 9565 1323276 BCAR3 breast cancer anti-estrogen resistance 3 Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. [provided by RefSeq] 1580863 17353931,9582273,18722344,17616674,17427198,17270363,17081983,16964243,16710414,15671247,15642172,15489334,14702039,12975309,12517963,12477932,10187783,9436634,8880875,19913121,20628086,19454314,19940159 8412 NM_003567,AL109613,AL359820,CH471097,AF124250,AK027785,AK055442,AK301570,AK310970,AL833121,AY358996,BC028477,BC039895,CR601884,U92715 NP_003558,CAI18950,CAI18951,CAH73975,EAW73065,EAW73066,EAW73067,EAW73068,AAD28245,BAG51378,BAG51518,BAG63064,AAQ89355,AAH39895,AAC39777,O75815,Q5TEW3,ACE87803,ACT64456 Hs.36958 KIAA0554|NSP2|SH2D3B OTTHUMP00000011961|SH2 domain-containing protein 3B|breast cancer anti-estrogen resistance protein 3|dJ1033H22.2 (breast cancer anti-estrogen resistance 3)|novel SH2-containing protein 2 protein-coding 2299009 BCAR4 breast cancer anti-estrogen resistance 4 16778085,20859285 400500 NR_024049,NR_024050,AC010654,BX107175,CR606007,CR622966 Hs.24611 miscrna 1351231 BCAS1 breast carcinoma amplified sequence 1 This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq] 20379614,17353931,15583422,15489334,14567997,12477932,11780052,11148209,10857754,9671742,9373149,8758909,8125298 8537 AK304213,AK316038,NM_003657,AC004501,AC005220,AL354801,CH471077,AF041260,AK225656,AK294135,AK294150,AK295318,AK308384,AK311215,AK315220,BC024044,BC126346,BC126348,CR749643 BAG65086,BAH14409,NP_003648,EAW75574,EAW75575,EAW75576,AAC39896,BAG57463,BAG57475,BAG58295,BAG37652,AAH24044,AAI26347,AAI26349,CAH18437,A0AVG7,O75363,Q05CL3,ADR83077,ADR83308 Hs.400556 AIBC1|NABC1 OTTHUMP00000165942|OTTHUMP00000165943|amplified and overexpressed in breast cancer|breast carcinoma-amplified sequence 1|novel amplified in breast cancer 1 protein-coding 1315129 BCAS2 breast carcinoma amplified sequence 2 1580863 9731529,17353931,12169396,16710414,15694360,15489334,12477932,12429849,12406557,10403562,9373149,8125298,11101529,19903847 10286 AL390241,NM_005872,CH471122,CQ831058,AB020623,AB451245,AB451369,AF081788,AK222637,AK313141,BC005285,BC012623,BC022880,BC039238,BF184377,BT019390,CR542037,CR624669 CAI13553,NP_005863,EAW56602,EAW56603,EAW56604,CAH05197,BAA34863,BAG70059,BAG70183,AAC64059,BAD96357,BAG35960,AAH05285,AAH12623,AAH22880,AAV38197,CAG46834,O75934,Q53HE3,ABM83455,ABW03501,ACE87704,ACE87016 Hs.22960 DAM1|SPF27|Snt309 DNA amplified in mammary carcinoma 1 protein|breast carcinoma-amplified sequence 2|pre-mRNA-splicing factor SPF27|spliceosome associated protein, amplified in breast cancer|spliceosome-associated protein SPF 27 protein-coding 1319844 BCAS3 breast carcinoma amplified sequence 3 1580863,2317828 18391951,18030336,17505058,16855396,16617102,16344560,15489334,14702039,12477932,12378525,9373149,8125298,20548946,20546612,20383146 2317828 54828 NM_017679,AC005746,AC005856,AC005884,AC015876,AC079005,AC110602,CH471179,AF260268,AF361219,AJ511332,AJ518105,AJ518836,AK000135,AK022526,AK023054,NM_001099432,AK225757,AK304791,AK314744,AL831895,BC001250,BC013841,BC017390,BC029983,BC033220,BC036280,BC117275,BC143386,BC143387,BX648103,CA444316,CR610433,DA188234,DA789232,AK025510 NP_001092902,NP_060149,EAW51410,EAW51411,EAW51412,EAW51413,EAW51414,EAW51415,EAW51416,AAF70324,AAL99632,CAD54076,CAD57723,CAD57724,BAA90966,BAB14078,BAB14380,BAB15156,BAG65541,BAG37284,CAD38568,AAH01250,AAH17390,AAI17276,AAI43387,AAI43388,Q05D99,Q17RM0,Q70WD9,Q9H6U6 Hs.655028 DKFZp686O1527|FLJ20128|GAOB1|MAAB|MGC4973 BCAS4/BCAS3 fusion|breast carcinoma amplified sequence 4/3 fusion protein|breast carcinoma-amplified sequence 3|metastasis associated antigen of breast cancer|protein Maab1 protein-coding 1352594 BCAS4 breast carcinoma amplified sequence 4 15489334,15342556,14702039,12477932,12378525,11780052 55653 NM_198799,NM_001010974,AL031680,AL133228,CH471077,AF361220,AJ511266,AK000502,BC038381,BC047337,NM_017843,BC056883,BP212127 NP_060313,NP_942094,NP_001010974,CAI23006,CAI23007,CAI23008,CAI19061,CAI19062,CAI19063,EAW75613,EAW75614,AAL99633,CAD53579,BAA91209,AAH38381,AAH47337,Q8TDM0 Hs.381178 CNOL|FLJ20495 BCAS4/BCAS3 fusion|OTTHUMP00000031274|OTTHUMP00000215950|breast carcinoma amplified sequence 4/3 fusion protein|breast carcinoma-amplified sequence 4 protein-coding 1345403 BCAT1 branched chain aminotransferase 1, cytosolic This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. [provided by RefSeq] 67954,631308,1580863 6933702,8692959,19260141,19119849,18419134,18074675,17846126,17007058,14702039,12477932,10471790,9657861,9165094,8889548,7566098,15231748,16141215,20062060,20379614,20339536,19913121,20628086,20639392,20734064,20877624 67954,631308 586 NG_008170,AC023796,AC026310,AC092867,AL390172,CH471094,AA376058,AF277179,AK024923,AK025615,AK056255,AK128527,AK294879,AK299088,BC026006,BC033864,BM458559,BU730066,BX647122,CR749308,NM_005504,U21551,BU618839,BX474651,DC385021,NM_001178091,NM_001178092,NM_001178093,NM_001178094 NP_005495,EAW96497,EAW96498,EAW96499,BAB71129,BAG54689,BAH11911,BAH12946,CAH18163,AAB08528,P54687,Q68DQ7,NP_001171562,NP_001171563,NP_001171564,NP_001171565 Hs.438993 BCATC|BCT1|DKFZp686E12175|ECA39|MECA39|PNAS-121|PNAS121|PP18 branched chain aminotransferase 1, cytosolic|branched-chain-amino-acid aminotransferase, cytosolic|placental protein 18 protein-coding 69002 BCAT2 branched chain aminotransferase 2, mitochondrial 67954,1300048,1300291,1582175,1580863 17050531,16141215,15489334,15182179,14702039,12686109,12477932,12269802,12119021,11264579,11170829,9665099,9657861,9478945,9373149,8125298,6933702,3896163,19119849,9165094,8702755,16344560,8889548,20877624 67954,1300291,1582175 587 CR594438,NM_001190,AC026803,CH471177,AF268047,AF268048,AK023909,AK093627,AK223522,AK309428,AK310101,AK310243,AK314548,BC001900,BC004243,BE139200,BU178552,CB049110,CR597502,CR599073,CR600705,CR605733,CR599031,CR607392,CR609900,CR613494,CR613942,CR615889,CR616057,CR617166,CR618244,CR618489,CR619213,CR619463,CR620275,CR621349,CR621640,CR626800,U62739,U68418,HC897076,BM802402,CA310873,DA129578,DC395685,NG_013003,NM_001164773,NR_028450,NR_028451 BAD97242,NP_001181,EAW52403,AAK38368,AAK38369,BAG52745,BAG37134,AAH01900,AAH04243,AAB53087,AAB67672,O15382,Q53EW7,ABM83276,ABM86480,CBN62949,NP_001158245 Hs.512670 BCAM|BCATM|BCT2|PP18 branched chain aminotransferase 2, mitochondrial|branched-chain-amino-acid aminotransferase, mitochondrial|placental protein 18 protein-coding 1316516 BCCIP BRCA2 and CDKN1A interacting protein This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 18440304,18950845,18773424,18413737,18299662,17947333,17452982,17353931,17135243,17081983,16341674,16247447,16189514,16169070,15713648,15539944,15489334,15231748,15164054,14726710,14702039,12527204,12477932,11836363,10878006,11754111,11748848,11313963,8889548,1571364,19578363,19653894,19713748,19861517 56647 NM_016567,NM_078469,NM_078468,AL360176,AY064247,CH471066,AA806484,AB040450,AB040451,AK055691,AK092054,AK300767,AK304529,AL834458,AY064248,AY064249,AY092061,BC009771,BM741863,BM905542,BM974496,BQ008485,CR590039,CR592263,CR595451,CR616411,CR626197 NP_057651,NP_510869,NP_510868,CAI12091,CAI12092,CAI12093,AAL55436,AAL55438,EAW49218,EAW49219,EAW49220,BAA92927,BAA92928,BAG51557,BAG62432,BAG65330,CAD39118,AAL55439,AAL55440,AAH09771,Q9P287 Hs.370292,Hs.715543 TOK-1|TOK1 BCCIPalpha|BCCIPbeta|BRCA2 and CDKN1A-interacting protein|BRCA2 and Cip1/p21 interacting protein|TOK-1alpha|TOK-1beta|cdk inhibitor p21 binding protein|p21- and CDK-associated protein 1|protein TOK-1 protein-coding 1601723 BCDIN3D BCDIN3 domain containing 19079260,12477932,17207965,20712903,20724581,20816195,19557197,20215397 144233 NM_181708,AC131157,CH471111,AK292194,BC040957,BC053560,BU622810,CD690663,CR600896,CR612652 NP_859059,EAW58101,BAF84883,AAH53560,Q7Z5W3,ADQ32577 Hs.142736 BCDIN3 domain-containing protein|probable methyltransferase BCDIN3D protein-coding 1343415 BCGF1 B-cell growth factor 1, 12kDa 1580863 7698329 588 P20931 732174 BCHE butyrylcholinesterase Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq] 1601317,1601321,1601322,1601335,2306780,2306781,2306778,2306779,2306782,2306783,2306776,2306777,1599458,1331525,734636,1601328,1599454,1580863 20886866,14760718,14735258,14686935,14622273,12901493,12881446,12869558,12811800,12724618,12687586,12668920,12477932,12417112,12387584,12130740,12074828,12044901,12009429,12003252,11856351,11856322,11849755,11848688,11793025,11749053,11738493,11725818,11436125,11125748,10529218,9673783,9543549,8680411,8063698,3542989,3477799,3115973,3067729,3035536,2915989,2339692,2322535,1769658,1769657,8930175,11569538,8622553,14718574,19217865,19156168,19056482,19019080,19010318,19006190,18780301,20677742,20879632,20122907,20356562,20399202,18555211,18550040,18422653,18334913,18322399,18300943,18290843,18237553,18165570,18076380,18075469,17996334,17923322,17917325,17852836,17768338,17701416,17700357,17698511,17690023,17660298,17503475,17410321,17350607,17335779,17275003,17192624,17116317,16973370,16962996,16909200,16824336,16801396,16788378,16731619,16504521,16429499,16344560,16335952,16298355,16289064,16288482,16278840,16213467,16105444,16020944,15907830,18778798,18640242,15834019,15802910,15781196,15731585,15696543,15690550,15519745,15489334,15465921,15449725,15386241,15258737,15111428,15060281,17318303,18457821,19383604,19452557,19481150,19578796,19617863,19685167,19956635,20056567,20058037,20143968,20193849,20308990,20379614,19474452,20883446,20445134,19913121,20529763,20628086,20644562 1601317,1601321,1601322,1601335,2306780,2306781,2306778,2306779,2306782,2306783,2306776,2306777,1599458,1331525,734636,1601328,1599454 590 NM_000055,NG_009031,AC009811,CH471052,M32391,AK292063,BC008396,BC018141,BF056152,CR611139,CR612468,DA426203,M16474,M16541 NP_000046,EAW78591,EAW78592,EAW78593,EAW78594,AAA99296,BAF84752,AAH08396,AAH18141,AAA52015,AAA98113,P06276,Q96HL2,ABM81967,ABM85146 Hs.420483 CHE1|E1 acylcholine acylhydrolase|butyrylcholine esterase|choline esterase II|cholinesterase|cholinesterase 1|pseudocholinesterase protein-coding 734102 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide The BCKDHA gene encodes the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex (BCKD; EC 1.2.4.4), an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine. This reaction is the second major step in the catabolism of the branched-chain amino acids (Wynn et al., 1998 [PubMed 9582350]). The BCKD complex consists of 3 catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a homo-24-meric dihydrolipoyl transacylase (E2; MIM 248610), and a homodimeric dihydrolipoamide dehydrogenase (E3; MIM 238331). E1 is a thiamine pyrophosphate (TPP)-dependent enzyme. The reaction is irreversible and constitutes the first committed step in BCAA oxidation. The BCKDHB gene (MIM 248611) encodes the beta subunit of E1. The complex also contains 2 regulatory enzymes, a kinase and a phosphorylase.[supplied by OMIM] 1599467,734637,737779,1580863 3224821,7883996,11839747,19480318,19456321,18378174,17922217,17353931,17081983,15489334,15322287,12902323,12812918,12477932,10745006,9582350,8889548,8161368,8037208,7918575,3379058,2914958,2805821,2703538,2241958,2060625,1943689,1889817,1885764,1867199,1861457,1682165,1420356,1356170,15166214,20877624,19715473,20136525 1599467,734637,737779 593 AK298188,AK313300,AL833143,BC007878,BC008933,BC023983,BE223026,BG742673,BI910860,BM702667,BQ018849,CR591555,CR592078,CR592674,CR592963,CR595459,CR598478,CR601175,CR604642,CR605564,CR610394,CR612929,CR618519,CR620134,CR620302,CR625203,CR625376,CR626152,CR626469,J04474,M22221,Z14093,NM_000709,AC011462,CH471126,S38309,S38327,S62652,AB209828,NG_013004,NM_001164783 BAD93065,BAG60459,BAG36106,CAH56215,AAH07878,AAH08933,AAH23983,AAB59549,AAA35590,CAA78475,P12694,Q59EI3,Q658P7,Q6ZSA3,Q9UMB3,NP_000700,EAW57039,EAW57040,AAB19267,AAB19268,AAB20222,NP_001158255 Hs.433307 BCKDE1A|FLJ45695|MSU|MSUD1|OVD1A 2-oxoisovalerate dehydrogenase (lipoamide)|2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial|BCKDH E1-alpha|branched-chain alpha-keto acid dehydrogenase E1 component alpha chain protein-coding 1351460 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq] 1599466,1599467,1580863 2365818,11839747,12902323,2022752,18378174,17922217,17524396,17329260,16472748,15489334,15166214,12477932,11509994,8651316,8161368,7918575,2335211,1889817,1860867,19480318,20379614,10745006,20877624 1599466,1599467 594 NM_000056,NG_009775,AL049696,AL391595,CH471051,D90391,U51015,AK289977,AK304353,AK310838,AK316545,BC034481,BC040139,BM553932,BT020063,CR590082,CR604591,CR623511,DB548202,DC372349,M55575,U50708,U51016,X52446,NM_183050 NP_898871,NP_000047,CAC36881,CAI15049,CAI15050,EAW48696,EAW48697,EAW48698,BAA14389,AAB09779,BAF82666,BAG65195,BAH14916,AAH34481,AAH40139,AAV38866,AAA51812,AAB16763,AAB09780,CAA36685,P21953,Q5T2J3,Q6LCK9,Q9BQL0 Hs.654441 E1B|FLJ17880|dJ279A18.1 2-oxoisovalerate dehydrogenase beta subunit|2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|BCKDE1B|BCKDH E1-beta|E1b-beta subunit of the branched-chain complex|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched-chain alpha-keto acid dehydrogenase E1 component beta chain protein-coding 69214 BCKDK branched chain ketoacid dehydrogenase kinase 1580863 11839747,17353931,15489334,12477932,12023963,8889548,1889817,1377677,20877624,19913121,20628086,2403034 10295 NM_001122957,AC135050,CH471192,AF026548,AK130145,BC007363,BC009872,BM679327,BX427330,CR542093,CR590567,NM_005881,CR593551,CR596415,CR598553,CR600084,CR603431,CR607075,CR608547,CR610444,CR610635,CR611022,CR612524,CR613328,CR619065,CR619582,CR619862,CR619975,CR622376,CR623244,CR626330,AK294691 NP_005872,NP_001116429,EAW52160,EAW52161,EAW52162,EAW52163,EAW52164,AAB82714,AAH07363,AAH09872,CAG46890,O14874,Q96G95,ABM84613,ABM87863,BAG57850 Hs.513520 BCKD-kinase|BCKDHKIN|OTTHUMP00000044998|OTTHUMP00000044999|[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial|branched chain alpha-ketoacid dehydrogenase kinase|branched-chain alpha-ketoacid dehydrogenase kinase protein-coding 1347575 BCL10 B-cell CLL/lymphoma 10 This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq] 1580863 18307945,19035248,20466000,11836626,11472070,16280327,15125833,11053425,15207693,15082780,16395405,16831874,10400625,16647297,15878976,11163238,12761501,14695475,17095757,12154360,11021819,11278692,15122200,17468049,16127295,19336552,19309400,19279678,19112107,18949449,18806265,18625728,18349075,18346354,18287044,18252714,18231929,17893875,17540779,17502353,17371994,17213322,17199743,17179215,17101977,17052756,16785131,16775419,16341151,16229939,16186825,16123224,15637807,15489334,15213237,14674990,14638696,14523480,12477932,12017308,11960389,11830492,11466612,11387339,11356195,11262391,11259443,11113112,11090634,10753917,10380921,10364242,10319863,10187815,10187771,10187770,9989495,8813110,17353931,1040062,16809782,17047224,19444310,19573080,19690445,19709433,19773279,19897484,20237496,16712791,20439115,20695076,21048031 8915 NM_003921,NG_012216,AF097732,AL590113,CH471097,AF057700,AF082283,AF100338,AF105066,AF127386,AF134395,AJ006288,AK291346,BC053617,BX647306,CA420027,CA443148,EF189176,BI831624,CB126730 NP_003912,AAD24918,CAH71557,EAW73208,AAD15800,AAC99767,AAD16428,AAF06894,AAD32597,AAD39147,CAA06955,BAF84035,AAH53617,ABN09569,O95999,Q5VUF1 Hs.193516 CARMEN|CIPER|CLAP|c-E10|mE10 B-cell lymphoma/leukemia 10|CARD containing molecule enhancing NF-kB|CARD-containing apoptotic signaling protein|CARD-containing molecule enhancing NF-kappa-B|CARD-containing proapoptotic protein|CED-3/ICH-1 prodomain homologous E10-like regulator|OTTHUMP00000011647|OTTHUMP00000036080|bcl-10|cCARMEN|caspase-recruiting domain-containing protein|cellular homolog of vCARMEN|cellular-E10|hCLAP|mammalian CARD-containing adapter molecule E10 protein-coding 1320527 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 10757802,10744719,9847074,19369625,19153051,19056937,19020323,18948576,18714373,18691915,18681895,18667698,18245381,17767159,17672918,16871282,16704730,15639232,15489334,14702039,12477932,11986957,11830502,11719382,11347906,11161790,20623620,20575024,19913121,20628086,19616629,19657335,19670153,19696200,19720844,19833888,19862010,19924444,20018918,20075150,20183929,20379614,20395365,20472475,20578197,20889853,21068433,20542454,20581827 53335 NM_018014,NM_138559,NM_022893,NG_011968,AC007381,AC009970,CH471053,AB058712,AF080216,AJ404611,AJ404612,AJ404613,AK001035,AK055251,AK092316,AK297507,AK300012,AY228763,AY692278,BC021098,BG393787,GU324936,GU324937 NP_060484,NP_612569,NP_075044,AAX93205,AAY14784,EAX00035,EAX00036,EAX00037,EAX00038,EAX00039,EAX00040,EAX00041,BAB47438,AAG49025,CAC17723,CAC17724,CAC17725,BAG51490,BAG52530,BAG59920,BAG61828,AAO88272,AAU04557,AAH21098,Q53TE8,Q53TS1,Q66LN6,Q9H165,ABZ92151,ABZ92337,ADL14507,ADL14508 Hs.370549 BCL11A-L|BCL11A-S|BCL11A-XL|CTIP1|EVI9|FLJ10173|FLJ34997|HBFQTL5|KIAA1809|ZNF856 B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2|B-cell lymphoma/leukemia 11A|BCL-11A|BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1|C2H2-type zinc finger protein|COUP-TF-interacting protein 1|EVI-9|OTTHUMP00000202083|OTTHUMP00000202085|ecotropic viral integration site 9 homolog|ecotropic viral integration site 9 protein homolog|zinc finger protein 856 protein-coding 1322422 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. [provided by RefSeq] 1580863 19399189,18768194,18595722,17308084,17245431,16950772,16091750,15668700,15325104,15104287,12930829,12692243,12565905,12196208,11719382,10744719,16809611,17369851,19366371,19581932,19454010 64919 NM_022898,NM_138576,AL109767,AL162151,AL359681,CH471061,AB043584,AF086271,AJ404614,NG_027894,FB736423 NP_075049,NP_612808,EAW81662,EAW81663,BAB32731,CAC17726,Q9C0K0,AAI56140,CAX20397 Hs.709690 CTIP-2|CTIP2|RIT1|ZNF856B|hRIT1-alpha B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein|B-cell lymphoma/leukaemia 11B|B-cell lymphoma/leukemia 11B|BCL-11B|BCL11B/TRDC fusion|COUP-TF-interacting protein 2|hRit1|radiation-induced tumor suppressor gene 1 protein|zinc finger protein hRit1 alpha protein-coding 733100 BCL2 B-cell CLL/lymphoma 2 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq] 1579980,1579966,2293020,2293059,2293016,2293015,2314140,2293022,2293026,2290557,2293017,2293013,2293014,2289659,2293072,2293078,2313975,2313998,2311240,2298889,2298896,2292908,2292909,2293019,2293073,2292910,2291908,2293018,2293027,2298890,2298897,1643477,2293021,2293065,734639,1599473,1599477,1599484,1599491,1300048,1580863,1579984,1643479 16463650,20352431,20368071,20459695,9111042,10620603,1373874,15231831,9027314,10506221,11684014,15776018,36599,8022822,11530860,1908951,7546744,9843949,9184696,11264898,12421819,15799693,16307838,7896880,10198631,11463392,12624108,1453000,1502141,19636371,19602458,19589501,19573080,19549844,19541585,19539330,19520430,19484260,19477129,19453261,19452318,19429088,19404232,19390575,19385591,19380879,19360919,19348791,15124764,15123638,15115329,15061204,15057274,15051039,15034060,15033827,15033825,15033793,15026553,15024706,14999286,14980220,14971737,14966123,14964781,14767525,14764541,14754534,14737118,14724650,14714449,14699151,14698203,14689061,14679209,14660675,14647426,14647416,14631373,14628086,14627346,14612291,14572466,14555646,14554083,14529662,14519627,13130506,12970736,12960340,12960134,12939460,12938158,12937123,12901880,12890867,12890751,12879322,12853473,12835724,12821128,12819863,12759537,12756585,12754350,12751031,12749011,12729794,12722479,12721767,12721288,12720100,12702730,12698366,12694817,12686415,12684626,12670866,19318089,19298794,19287965,19287190,19276283,19269343,19266703,19260506,19250983,19240654,19237173,19228691,19205434,19196738,19160418,19157504,19152170,19141860,19141121,19138978,19124070,19107861,19107326,19074885,19060592,19058789,19048366,19020723,18998362,18985814,18983973,18957415,18949393,18940474,18929412,18838868,18835031,18818203,18813857,18806751,18769121,18769111,18758641,18758240,18752503,18719108,18712678,18705844,18695940,18695675,18692524,18687309,18675369,18657507,18653721,18651163,18636124,18633450,18622426,18594472,18573594,18572327,18570871,18568946,18568776,18568671,18566606,18561741,18543286,18538438,18534994,18534064,18516673,18516322,18510726,18508827,18505729,18493992,18474261,18472157,18468253,18465329,18458532,18450493,18438339,18430249,18428028,18427947,18426731,18415689,18415681,18411730,18410632,18407350,18398703,18386458,18382371,18375822,18367485,18363112,18357521,18343029,18342927,18334006,18327814,18314333,18313386,18279996,18263880,18248353,18240345,18228020,18215418,18203018,18199533,18189268,18182854,18178565,18174230,18162459,18160396,18158619,18156504,18091321,18079751,18073527,18069888,18063429,18059532,18055344,18046541,18046449,18046447,18041310,18037229,18026954,18023359,18021997,18006836,17989874,17981569,17978676,17960583,17959858,17957472,17942410,17936584,17920946,17916073,17913397,17912028,17909078,17909067,17908970,17905238,17893875,17893147,17882791,17880809,17852408,17848408,17848143,17825790,17785460,17785366,17727680,17713095,17701916,17693666,17675494,17670745,17666167,17252199,17241114,17207023,17203183,17200714,17191123,17188136,17145812,17118768,17091766,17090549,17082179,17074584,17050165,17015762,16998187,16988783,16984978,16982461,16960146,16950491,16949642,16874461,16855163,16850164,16841088,16840204,16839413,16832704,16820876,16799010,16777355,16761743,12667443,12637332,12629413,12617962,12613529,12583439,12581249,12579337,12575534,12540563,12533044,12532420,12530303,12515824,12513829,12510191,12510149,12499093,12490308,12481899,12480939,12477932,12477729,12477721,12452037,12440815,12439925,12431997,12420213,12404120,12400004,12393707,12270344,12234263,12217802,12215338,12214154,12209955,12209154,12207028,12197771,12197229,12189556,12186923,12174951,12172977,12171774,12170763,12167335,12165497,12162425,12161031,12151395,12140755,12133517,12133494,12118096,12112824,12101183,12096338,12095993,12095980,12086875,12086670,12082633,12070027,12054916,12054739,16735440,16733517,16717086,16714000,16707568,16690525,16675913,16648655,16642033,16638864,16638854,16636671,16575548,16568081,16566921,16554306,16550596,16545683,16541314,16538384,16533807,16533178,16520895,16481323,16479062,16472763,16469847,16443602,16438077,16358373,16308474,12046064,12039864,12036888,12036886,12036852,12032841,12032828,12031912,12025227,12019168,12011972,12000759,11999565,11994280,11988841,11986946,11983915,11971816,11964319,11959101,11956602,11949843,11949842,11948397,11940482,11929874,11914580,11908736,11877670,11877669,16273250,16246184,16243795,16228292,16227396,16215945,16215670,16204228,16199534,16195370,16194898,16186795,16186627,16181427,16173075,16167175,16166262,16148027,16139338,16133992,16132718,16010987,16007339,15981087,15965276,15929186,15911345,15907209,15901672,15889622,15880952,15876860,15849194,15840562,15837573,15832769,15830715,15826766,15817479,15811121,15803126,15800682,15763593,15757977,15754411,15735709,15733859,15720419,15720412,15716988,15657350,15657349,15638363,15634885,15633216,15619620,15605273,15593417,15584904,15577328,15572421,15561778,15547950,15545228,15544840,15541642,15528355,15498929,15492114,15489891,15489334,15484294,15478112,15467450,15467428,15375594,15367432,15351796,15345651,15340216,15339676,15329319,15314639,15314290,15303767,15302859,15280201,15274378,15263017,15261486,15245329,15243561,15235941,15225643,15203866,15196944,15156398,15149158,15149157,11877309,11877266,11871856,11867266,11864421,11861644,11856759,11855781,11839683,11815602,11804688,11804283,11790116,11787859,11776759,11759062,11759059,11728179,11642719,11546872,11527400,11513873,11463391,11437653,11406564,11390485,11368354,11326318,11325850,11323417,11278245,11262395,11181702,11175251,11158204,11126360,11054413,10871848,10848600,10669763,10625696,10622714,10620799,10567572,10521466,10490827,10467396,10354271,10329560,10217402,10075695,9973195,9852076,9765397,9738012,9727491,9660918,9525867,9463381,9449720,9430630,9395403,9389483,9334338,9305631,9130713,9119086,9109491,9031086,8949945,8929532,2250705,1508712,1339299,9226228,17158886,10072505,9226175,15179054,8790371,9561195,15093750,16235026,15832179,15353294,11123279,16120388,15694340,9731710,11752215,10807576,11832478,10679027,11774038,15231068,11060313,10949025,15520201,12815463,12137781,15233914,15210690,15613488,11483855,11495898,11583631,9788433,10716992,10330179,15574335,20177797,20627094,20631638,20836993,20841355,20869096,20889974,21061795,20448381,20962079,21115898,20233885,20404322,20459572,20411301,20460269,20584903,20594261,16750039,19336552,8910675,2834197,17652637,17632732,17616686,17588340,17575222,17561354,17557568,17536310,17534194,17516614,17516030,17507655,17473827,17464868,17439414,17438366,17434928,17426248,17418785,17404013,17384650,17379544,17372162,17360176,17356300,17325632,17310847,17301078,17295204,17290286,17272502,17259174,8760290,8668206,8551385,8402618,8358790,8232588,8183370,8090743,7954800,7834748,7753817,7593193,7579350,3924412,3523487,3285301,2875799,18664350,20392693,20415745,17875758,20668314,20668552,20691103,19798108,19834492,20178647,20200776,20423464,20699221,20855536,20877624,20959405,10417825,10677502,10837489,11206074,11877091,12839682,14558950,14739602,15344336,16530191,16697956,16732934,16790527,16980304,17097560,17274640,17626754,17692808,18478476,18794804,19002577,19027288,19050681,19064571,19107575,19168699,19195736,19238538,19280241,19351510,19351886,19395874,19398149,19417623,19448593,19460716,19473442,19495739,19520857,19535347,19535901,19537891,19540934,19550126,19556603,19557638,19582475,19585117,19597184,19605509,19620938,19625133,19627536,19655415,19656156,19664395,19671677,19676105,19706527,19717648,19723039,19723066,19724860,19725224,19730103,19737931,19752028,19762066,19773279,19774677,19774948,19783718,19786087,19789190,19797069,19805519,19818125,19823588,19838163,19846939,19854241,19883311,19890377,19890662,19908860,19925052,19931389,19937732,19938012,19938958,19940548,19956635,19968497,19996270,20001236,20010526,20010695,20023428,20025478,20032416,20034411,20036222,20042890,20045442,20048149,20068093,20072652,20082279,20087644,20090905,20118770,20132430,20139069,20142237,20146885,20157331,20160358,20180421,20181625,20189983,20198332,20223826,20237496,20307495,20350212,20352700,20368567,20453000,20468060,20504155,7650367,7772249,7929424,8050499,8080725,9070836,9115213,20564216,20664977,20382751,20409521,20518070,19560836,19913121,20495005,20530713,20571027,20610805,20628086,20644561,20658730,20716276,20442586,20514538,20936988,20951945 1579966,2293020,2293059,2293016,2293015,2314140,2293022,2293026,2290557,2293017,2293013,2293014,2289659,2293072,2293078,2313975,2313998,2311240,2298889,2298896,2292908,2292909,2293019,2293073,2292910,2291908,2293018,2293027,2298890,2298897,1643477,2293021,2293065,734639,1599473,1599477,1599484,1599491,1579984,1643479 596 NM_000633,NM_000657,NG_009361,AC021803,AC022726,AY220759,CH471096,S72602,AF401211,AI401297,BC027258,EU287875,M13994,M13995,M14745,X06487,FB571387,FB571389 NP_000624,NP_000648,AAO26045,EAW63136,EAW63137,EAW63138,EAW63139,AAD14111,AAL02169,AAH27258,ABX60202,AAA51813,AAA51814,AAA35591,CAA29778,P10415,Q96PA0,ABM82396,ABM85580,CAR95111,CAR95112 Hs.150749 Bcl-2 OTTHUMP00000163680|apoptosis regulator Bcl-2|b-cell leukemia/lymphoma 2 protein-coding 733985 BCL2A1 BCL2-related protein A1 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2313975,734640,1580863 16697956,18835031,8605321,19336552,18812174,18512730,18414982,18206119,18093280,17942758,17726463,17724464,17666431,17121585,16873269,16572199,16551634,16164629,15696550,15694340,15617521,15592513,15501771,15499630,15489334,14981542,14966372,14747545,12771180,12692420,12665576,12477932,11929871,11696595,11483855,11329013,10849436,10753914,10545479,10454539,10430908,10381646,10049353,9670936,9356461,9321477,9050999,8952545,8910286,8589678,8345191,7478596,10198631,19573080,19759007,19773279,20185581,20353833,9731710,19913121,20628086,20800603,20855536 2313975,734640 597 NM_004049,NM_001114735,AC015871,CH471136,AL110097,AY234180,BC016281,BG198875,BG204033,BG216703,BT007103,CD640106,CR541937,CR541962,U27467,U29680,Y09397,HI574046 NP_004040,NP_001108207,EAW99129,AAO89009,AAH16281,AAP35767,CAG46735,CAG46760,AAC50288,AAC50438,CAA70566,Q16548,Q86W13,ABM82035,ABM85216,CBX47512 Hs.227817 ACC-1|ACC-2|BCL2L5|BFL1|GRS|HBPA1 bcl-2-like protein 5|bcl-2-related protein A1|bcl2-L-5|hematopoietic BCL2-related protein A1|hemopoietic-specific early response protein|protein BFL-1 protein-coding 735516 BCL2L1 BCL2-like 1 The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq] 1579980,1579966,1643478,1643480,1643492,1643477,1643481,1643482,1643483,1643491,1643493,1643525,2292685,1643474,1643476,1643479,1643494,2314140,2313975,2292910,1300048,1580863 19713971,20507983,16608847,8358789,9843949,9184696,9727492,10195903,10198631,11463392,12667443,19573080,19459857,19336552,19317621,19242522,19219602,19212627,19211554,19199036,19180116,19165861,19049976,19043455,19020723,19008458,18974096,18843207,18820703,18818203,18813778,18806875,18786178,18775810,18768389,18641390,18636124,18609706,18594472,18590823,18580065,18568767,18566606,18543286,18534987,18511705,18494061,18428028,18342927,18299329,18285708,18262222,18216295,18196538,18182854,18171672,18079751,18069888,17942397,17927446,17923691,17923112,17893147,17880809,17873279,17699158,17673921,17659302,17657164,17652760,17534896,17525735,17519046,15131699,12011449,15901672,15837790,15827323,15782132,15770735,15767554,15733859,15725478,15722788,15694358,15694340,15657350,15657349,15653751,15638369,15638362,15625014,15574335,15489334,15477204,15459197,15459189,15385505,15375594,15323553,15292226,15179366,15156398,15124764,15079071,15034060,20580954,20858890,19763917,20728382,20347499,20400521,17492131,15030396,17439414,17428862,17418785,17404017,17384650,17369848,17311927,17301078,17272823,17237249,17227835,17209561,17110373,16983335,16959370,16928273,16850161,16835272,16815550,16810067,16794010,16790528,16773221,16723699,16684963,16650855,16632475,16603546,16572323,16572289,16492678,16403219,16368107,16253528,16204228,16192647,16151013,16148096,16085058,16085054,16081848,16077903,16052512,16048439,15961228,14764594,14752512,14739602,14735465,14668940,14656879,14656874,14631373,14625274,14573608,14520471,14502257,12969962,12963020,12937123,12855666,12853473,12815463,12810626,12783855,12738789,12721288,12637494,12592339,12579342,12553012,12515824,12510191,12477932,12439925,12387875,12381725,12372300,12244097,12214154,12209955,12204872,12198137,12186923,12161031,12115603,12108390,12079401,12070027,12046686,12025227,12000759,11994280,11965035,11964315,11941452,11911810,11883953,11859372,11815602,11801602,11788897,14960327,11742726,11733517,11714801,11696595,11583631,11574549,11494146,11483855,11463391,11437653,11423909,11342619,11283018,11279541,11278245,11206074,11175750,11126360,11060313,11054413,11044452,10949025,10891504,10807576,10802717,10737788,10713718,10679027,10625696,10620799,10467399,10467396,10446169,10365962,10330179,10217402,10075695,10049775,9973195,9765397,9742125,9675101,9660918,9539746,9525867,9488720,9435230,9430630,9393856,9388232,9334338,9326610,9305851,9192670,9153240,9130713,9111042,9020082,8692274,8596636,7834748,7644501,7540278,11739707,11123279,15705582,12137781,11077446,9824152,9389483,14596824,9731710,11832478,10837489,16189514,12901880,15637055,12767928,8929532,14980220,15870695,11780052,11756417,15353804,14963330,9372935,15721256,17911582,11971963,15077116,15292519,15625897,16697956,17046835,17274640,17633465,18088462,18250306,18718060,18835031,19060904,19064571,19220664,19395874,19397698,19439449,19467764,19520842,19530162,19567200,19587033,19634140,19670908,19692168,19723045,19773279,19797069,19820711,19834061,19838163,19878271,19883274,19916559,19917720,19948828,19955567,20045442,20048149,20051518,20090905,20100468,20106970,20178603,20192224,20223826,20308427,20453000,20468060,7650367,9027312,9027313,20213502,20363734,20063052,20203691,20661931,20818434,21033220,20140092,20331635,20581863,20628624,20855536 1579966,1643478,1643480,1643492,1643477,1643481,1643482,1643483,1643491,1643493,1643525,2292685,1643474,1643476,1643479,1643494,2314140,2313975,2292910 598 NM_138578,NM_001191,AL117381,AL160175,CH471077,U72398,AK290968,AY263335,AY263336,BC019307,BT007208,BX647525,CR936637,Z23115,Z23116,HI574024,HI574026,FB721215,FB725892 NP_612815,NP_001182,CAI23025,CAI23026,CAI23027,CAC10003,CAI12811,CAI12812,CAI12813,CAI12814,CAI12815,EAW76424,EAW76425,EAW76426,EAW76427,EAW76428,EAW76429,AAB17354,BAF83657,AAP22027,AAP22028,AAH19307,AAP35872,CAI56777,CAA80661,CAA80662,Q07817,Q5QP56,Q5QP59,Q5TE63,Q5TE64,Q9H1R6,ABM84387,ABM87310,CBX47501,CBX47502,CAT03369,CAT03400 Hs.516966 BCL-XL/S|BCL2L|BCLX|BCLXL|BCLXS|Bcl-X|DKFZp781P2092|bcl-xL|bcl-xS OTTHUMP00000030550|OTTHUMP00000030552|OTTHUMP00000030555|OTTHUMP00000030556|OTTHUMP00000030557|apoptosis regulator Bcl-X|bcl-2-like protein 1|bcl2-L-1 protein-coding 1353095 BCL2L10 BCL2-like 10 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq] 2313975,1580863 18835031,9829980,11278245,9878060,19336552,18483366,18178565,17532299,12720100,12477932,11689480,11593390,11557035,10486928,9488720,19913121,20628086,19255499,19551325,19573080,19773279,20428828,20855536 2313975 10017 NM_020396,AC023906,AJ458330,CH471082,AF285092,AF326964,BC093826,BC093828,BC104442,BC104443 NP_065129,CAD30221,EAW77435,AAG00503,AAK48715,AAH93826,AAH93828,AAI04443,AAI04444,Q9HD36 Hs.283672 BCL-B|Boo|Diva|MGC129810|MGC129811 anti-apoptotic protein NrH|apoptosis regulator Bcl-B|bcl-2-like protein 10|bcl2-L-10 protein-coding 734299 BCL2L11 BCL2-like 11 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family, including BCL2, BCL2L1/BCL-X(L), and MCL1, and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq] 704412,2314029,734641,1580863,704413 12376548,12787561,14769789,15661735,16213503,19407828,19494111,19541822,19574221,19641506,19737817,19773279,19773546,19805519,19850739,19881544,19914305,20066663,20074640,20082325,20086250,20160166,20206402,20231287,20332261,20348947,19893569,20010785,10198631,15694340,16282323,16697956,17692808,18420585,18677096,14764673,10381623,12591950,19587239,19573080,19403302,19336552,19332026,19330811,19308286,19305426,19300516,19285955,19150432,19141860,19101511,19100522,19064725,19052714,18981303,18949058,18925930,18812174,18806830,18758461,18715501,18715233,18668139,18651223,18549468,18508762,18413764,18398508,18391004,18354037,18348176,18345036,18251703,18246127,18195012,18182577,18165867,18089817,18064628,18063582,18006817,17927446,17717606,17716672,17698840,17686764,17653091,17637819,17538248,17531220,17525735,17499214,17486061,17289999,17276340,17251431,17218274,17203211,17188240,17158029,17151701,17105963,17074758,17067554,17062728,17051334,16951744,16888645,16810067,16773715,16478725,16476732,16373335,16260615,16183168,16148027,16091744,16051596,16022280,15899862,15843898,15824087,15767553,15731089,15731037,15728578,15711598,15688014,15653751,15509554,15489334,15486195,15459900,15378010,15147734,15146197,15030401,15014070,14996839,14970329,14732682,14681225,14676826,14596824,14555991,14527951,12844146,12818176,12486001,12477932,12388545,12198137,12118373,12095614,12019181,11997495,11859372,11734221,11583631,11435715,11301022,11210187,11050388,10837489,10576740,9731710,9463381,9430630,8929531,8918887,15193260,14561217,15721256,20431602,20841506,20878914,21151127,20404322,20700448,20819778,20855536,20959405,17207965 704412,2314029,734641,704413 10018 NM_138621,NM_006538,NM_207002,AC096670,CH471237,AA854054,AB071195,AB071196,AB071197,AB071198,AB071199,AB071200,AF032457,AF032458,AF086141,AF455755,AK027160,AK290377,AK291269,AY305714,AY305715,AY305716,AY352518,AY423441,AY423442,AY423443,AY428962,BC033694,CN411912,DQ849200,DQ849201,DQ849202,HI179172 EAW50367,NP_619527,NP_006529,NP_996885,AAY14797,EAW50364,EAW50366,EAW50370,EAW50371,EAW50372,BAB78589,BAB78590,BAB78591,BAB78592,BAB78593,BAB78594,AAC39593,AAC39594,AAL57868,BAF83066,BAF83958,AAQ82546,AAQ82547,AAT34900,AAQ62569,AAQ99148,AAQ99149,AAQ99150,AAR06908,AAH33694,ABI13589,ABI13590,ABI13591,O43521,Q6JTU4,Q8WXB2,CBX53894,ADQ31938 Hs.469658 BAM|BIM|BIM-alpha6|BIM-beta6|BIM-beta7|BOD|BimEL|BimL OTTHUMP00000197013|OTTHUMP00000204247|bcl-2 interacting mediator of cell death|bcl-2 interacting protein Bim|bcl-2-like protein 11|bcl-2-related ovarian death agonist|bcl2-L-11|bcl2-interacting mediator of cell death protein-coding 1606211 BCL2L12 BCL2-like 12 (proline rich) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a Bcl-2 homology domain 2 (BH2). The function of this gene has not yet been determined. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 18844453,18669646,17081983,16344560,15493871,15489334,14759258,12783122,12477932,11401436,11283018,19376117,18930135,19913121,20628086,20855536,19723066,19763795,19903463 83596 NM_001040668,AC011495,AF289220,CH471177,BC007724,BC104004,BC104005,BC104006,NM_138639 NP_619580,NP_001035758,AAG29495,AAG29496,EAW52514,EAW52515,EAW52516,EAW52517,AAH07724,AAI04005,AAI04006,AAI04007,Q3SY13,Q9HB09 Hs.289052 MGC120313|MGC120314|MGC120315 Bcl-2 related proline-rich protein|bcl-2-like protein 12|bcl-2-related proline-rich protein|bcl2-L-12 protein-coding 1315911 BCL2L13 BCL2-like 13 (apoptosis facilitator) 1580863 17974005,18669648,19064571,20109966,20237496,20379614,20855536,20877624,11262395,18519826,17360363,17081983,16189514,15489334,15461802,14702039,12527362,12477932,11381032,10591208 23786 AC006285,CH471193,AF086412,AF146568,AF183411,AF246665,AF325209,AF539453,AK027443,AK056248,AK075044,AK291449,AK294286,NM_015367,AK314489,AL133029,AL831982,BC003032,BC007658,BC016037,BX354578,CR456521,CR592003,CR602426,CR602532,CR608603 NP_056182,EAW57766,EAW57767,EAW57768,AAF03602,AAG09680,AAK15150,AAK27358,AAN10130,BAG51659,BAF84138,BAG37090,CAB61361,CAD89976,AAH07658,AAH16037,CAG30407,Q86T62,Q8IZP5,Q9BXK5,CAK54552,CAK54851,ABM84173,ABM87575,BAH11724 Hs.631672 BCL-RAMBO|Bcl2-L-13|MIL1 OTTHUMP00000196199|Protein Mil1|bcl-2-like protein 13 protein-coding 1603380 BCL2L14 BCL2-like 14 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq] 2315712 11054413,18006276,17557568,17280616,16484005,15489334,15284860,12477932,12440815,12136098,11896457,9373149,8125298,20855536,19913121,20628086,20677014,19524489,19671159,20379614 2315712 79370 NM_138723,NM_030766,NM_138722,AC007537,AJ329005,CH471094,AF281254,AF281255,AK000127,AK026440,AK223415,AK292995,AY040274,BC025778,HC679613 NP_620049,NP_110393,NP_620048,EAW96247,EAW96248,EAW96249,EAW96250,EAW96251,AAG59793,AAG59794,BAD97135,BAF85684,AAK72109,AAH25778,Q53F74,Q9BZR8,CBL93958 Hs.210343 BCLG apoptosis facilitator Bcl-2-like protein 14|apoptosis regulator BCL-G|bcl2-L-14 protein-coding 1603456 BCL2L15 BCL2-like 15 16710414,15961081,15489334,12477932,12700646,16690252,17412810 440603 NM_001010922,AL137856,AI821052,AK026241,AY265861,AY265862,AY265863,AY265864,BC127719,BC127720,BX116361,CR749373,AK289439 NP_001010922,CAI19070,AAP93855,AAP93856,AAP93857,AAP93858,AAI27720,AAI27721,CAH18226,Q5TBC7,Q68DJ4,BAF82128 Hs.123106 Bfk|C1orf178|FLJ22588 bcl-2-like protein 15|bcl2-L-15|pro-apoptotic Bcl-2 protein protein-coding 1352362 BCL2L2 BCL2-like 2 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. [provided by RefSeq] 2313963,2313975,1580863 15694340,16697956,9500547,8761287,19369647,19336552,19141860,19124064,19114998,19097687,18692484,17459056,16475813,16344560,15489334,15147516,12651847,12477932,12115603,11546872,11483855,11423909,11152643,9731710,9430630,9039502,10381646,12952938,12660157,20510331,20515870,20575554,20696142,20736132,20808289,21060336,10737800,15342556,15790807,17306351,20062536,20213841,20501806,19451595,19573080,19654003,19913121,20628086,20819778,20855536,20959405 2313963,2313975 599 NM_004050,AL049829,CH471078,AA524030,AA741032,AK289519,BC021198,BC104789,BC113522,BQ001111,BT019549,CR599417,CR611426,D87461,DA196433,U59747,BP216712,BQ359913,DA288957,DA451936,NM_001199839 ADR82846,NP_004041,EAW66169,BAF82208,AAH21198,AAI04790,AAI13523,AAV38356,BAA19666,AAB09055,Q92843,NP_001186768 Hs.410026 BCL-W|BCL2-L-2|BCLW|KIAA0271 BCL2-like 2 protein|apoptosis regulator BCL-W|bcl-2-like protein 2|bcl2-L-2 protein-coding 1343125 BCL2L7P1 BCL2-like 7 pseudogene 1 1580863 7715731,11780052,21048031 600 NG_000850,BX640505,U16812 AAA74467,Q5HCI0 BAK2|BCL2L7P1|Bak-2|DKFZp686D0345 pseudo 1352173 BCL2L7P2 BCL2-like 7 pseudogene 2 7715731 601 NG_005599,AP004371,U16813 BAK3|BAK3P|BCL2L7P2 pseudo 1314971 BCL3 B-cell CLL/lymphoma 3 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq] 1580863 20547759,16940298,16732314,16311697,16123212,16099425,15829968,15634875,15489334,15469820,15105810,12808109,12730195,12477932,12456498,11707390,11485202,10607713,10497212,10362352,9812988,9576921,9218802,8497270,8453667,16306601,8196632,11387332,16108830,16384933,16280327,9407099,19494302,19383626,19229118,19191868,18940474,18796561,18025803,17963943,17881446,17644518,17495977,17272867,8428580,8330739,7896265,7691160,2180580,2124350,1923524,1501714,1406939,17923499,14678988,10469655,19282837,19451226,19617629,19806201,19913121,20226764,20471052,19893491,20414006,20558726,20731879,21048031,20800578,20572854,20601676,20634891,20672350 602 NM_005178,AC092066,CH471126,M31731,U05681,U05822,Z15098,AK296180,AK309453,BC064993,BU501187,M31732 NP_005169,EAW57291,AAA51816,AAC51348,BAH12275,AAH64993,AAA51815,P20749 Hs.31210 BCL4|D19S37 B-cell leukemia/lymphoma 3|B-cell lymphoma 3 protein|B-cell lymphoma 3-encoded protein|BCL-3|OTTHUMP00000200152|chronic lymphatic leukemia protein|proto-oncogene BCL3 protein-coding 1344720 BCL5 B-cell CLL/lymphoma 5 2682663,8400234 603 1319642 BCL6 B-cell CLL/lymphoma 6 The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq] 1600111,1580863 20935202,20959405,21048031,20547840,10898795,16819511,15577913,9135990,10490843,11821949,7795255,19367498,19336552,19141860,19052359,18801072,18776761,18676680,18675787,18660489,18636124,18604721,18500267,18494554,18487509,18354204,18346918,18256039,18212045,18203018,18166802,17989722,17989715,17889713,17828269,17785208,17689208,17635238,17625604,17594153,17576390,17558410,17542409,17476282,17468402,17403935,17392284,17360630,17296585,17210865,17151114,16943429,16896311,16815642,16773719,16772602,16766263,16733207,16728698,16704730,16489068,16455075,16344560,16264183,16249378,16194898,16147992,16125304,16094416,15609396,15509806,15377470,15339680,15277222,15202519,15191563,15146197,15024721,14690607,14655758,14654791,14551142,12970571,12881702,12879322,12860928,12835729,12775568,12590135,12562237,12555064,12518453,12515714,12507907,12477975,12477932,12469325,12413700,12402037,12393409,12389616,12217802,12165517,12097386,12004059,11994280,11929873,11920179,11914273,11911418,11854457,11175338,10601358,9927193,9765306,9649500,9632807,9624052,9380707,9311010,9171827,9110977,9047392,8758205,8692924,8618933,8506375,8274740,8274736,8235596,8220427,7795234,7639334,1946370,1505991,10611298,9627120,15531890,15454082,18029348,19170196,19268365,19307668,19448593,19465899,19487462,19525926,19549844,19564417,19573080,19625176,19631565,19656156,19692168,19701248,19773279,19787248,19797315,19797429,19816083,19855081,19925052,19965633,19966776,20032416,20124477,20160358,20175752,20237496,20299965,20379614,20385356,20453000,20348878,20557674,20630860,20733034 1600111 604 NM_001706,NG_007149,NM_001130845,NM_001134738,AC072022,AF240680,CH471052,M88362,Z79581,AI624861,AK304325,AK308162,AW337942,AW470156,BC142705,BC146796,BC150184,BX649185,CN401512,DB025893,EU139066,EU883531,S67779,U00115,Z21943,DB079847 NP_001697,NP_001124317,NP_001128210,EAW78140,EAW78141,AAA61320,BAG65174,AAI42706,AAI50185,CAE46203,ABX45135,ACG60659,AAC50054,CAA79937,P41182,Q15924 Hs.478588 BCL5|BCL6A|LAZ3|ZBTB27|ZNF51 B-cell lymphoma 5 protein|B-cell lymphoma 6 protein|B-cell lymphoma 6 protein transcript|BCL-5|BCL-6|OTTHUMP00000209900|cys-his2 zinc finger transcription factor|lymphoma-associated zinc finger gene on chromosome 3|protein LAZ-3|zinc finger and BTB domain-containing protein 27|zinc finger protein 51|zinc finger transcription factor BCL6S protein-coding 1349060 BCL6B B-cell CLL/lymphoma 6, member B (zinc finger protein) 1580863 15489334,14702039,12477932,11855826,10965127,9632807,1946370,1505991 255877 NM_181844,AB076581,AC040977,CH471108,M88371,AB076580,AK024695,AK122893,AK292878,AK293102,BC059404 NP_862827,BAC00963,EAW90273,EAW90274,AAA61329,BAC00962,BAG53785,BAF85567,BAF85791,AAH59404,Q15934,Q8N143,ABZ92123 Hs.22575 BAZF|ZBTB28|ZNF62 B-cell CLL/lymphoma 6 member B protein|B-cell CLL/lymphoma 6, member B (zinc finger protein)|bcl6-associated zinc finger protein|zinc finger protein 62 protein-coding 1319851 BCL7A B-cell CLL/lymphoma 7A This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 15897551,19336552,18663754,15489334,14743216,12477932,9931421,8605326,19573080,19773279 605 NM_020993,NM_001024808,AC069503,AC145420,AC156455,CH471054,AK296159,AK316486,BC094723,BC113627,BM801030,X89984 NP_066273,NP_001019979,EAW98301,EAW98302,BAG58898,BAH14857,AAH94723,AAI13628,CAA62011,Q4VC05,ADR82878 Hs.530970 BCL7 B-cell CLL/lymphoma 7 protein family member A|B-cell CLL/lymphoma-7 protein-coding 1349003 BCL7B B-cell CLL/lymphoma 7B The protein encoded by this gene contains a region that is highly similar to the N-terminal segment of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. The function of this gene has not yet been determined. [provided by RefSeq] 1302558 8605326,18193044,15489334,14702039,12477932,9931421,9860302,9806765,16344560,20571754,20972250,20864672 1302558 9275 NM_001707,AC005089,CH471200,AJ223979,AK290091,BC000956,BC001967,BC009548,CR594296,CR594510,CR598138,CR598410,CR604024,CR612621,CR614272,CR614287,CR616908,CR620291,CR622063,X89985,AL553260,AW328570,BI837138,BQ109412,DA688517,NM_001197244,NR_036682,NG_027959 NP_001698,EAW69675,EAW69676,EAW69677,EAW69678,CAA11753,BAF82780,AAH00956,AAH01967,AAH09548,CAA62012,Q9BQE9,ABM92173,ABM84642,NP_001184173 Hs.647051 B-cell CLL/lymphoma 7 protein family member B|OTTHUMP00000211550 protein-coding 1318207 BCL7C B-cell CLL/lymphoma 7C This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. [provided by RefSeq] 19336552,17081983,15489334,15345747,15302935,12477932,9931421,8605326,19573080,19773279,17207965,18809673,19759913 9274 NM_004765,AC135048,CH471192,AJ223980,BC019071,BC058863 EAW52193,AAH19071,AAH58863,Q8WUZ0,NP_004756,CAA11754,ADQ32980 Hs.658547 B-cell CLL/lymphoma 7 protein family member C protein-coding 1347119 BCL8 B-cell CLL/lymphoma 8 16572171,16344560,14702039,12160729,9159141 606 NR_027992,AC068446,AC131280,AL832227,DA278599,AC012414 P0C6P0 Hs.648589,Hs.722799 BCL8A pseudo 1315830 BCL9 B-cell CLL/lymphoma 9 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq] 1580863 11955446,17113272,18789482,18498752,18347063,17052462,15302935,14612447,12477932,12047235,10602418,9490669,15294866,19328798,19715304,19738061,20379614,19913121,20628086,20637214 607 HI574316,NM_004326,AL359207,AL590667,CH471223,BC116451,CR597072,Y13620 CBX47647,NP_004317,CAI15198,EAW50932,EAW50933,AAI16452,CAA73942,O00512,Q1JQ81 Hs.415209 LGS|MGC131591 B-cell CLL/lymphoma 9 protein|B-cell lymphoma 9 protein|bcl-9|protein legless homolog protein-coding 1319242 BCL9L B-cell CLL/lymphoma 9-like 17052462,15371335,12964048,12477932,15574752,19328798,20637214 283149 NM_182557,AP004609,CH471065,AB094091,AK122650,AK122882,AY296059,BC033257,CR606474 NP_872363,EAW67418,BAC76045,BAC85500,BAC85512,AAQ62697,AAH33257,Q86UU0,AAI56198 Hs.414740 BCL9-2|DLNB11 B-cell CLL/lymphoma 9-like protein|B-cell lymphoma 9-like protein|BCL9-like protein|nuclear co-factor of beta-catenin signalling|protein BCL9-2 protein-coding 1320189 BCLAF1 BCL2-associated transcription factor 1 This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20661537,10330179,15009215,17938203,17081983,16964243,16565220,16083285,15681850,15659558,15489334,15324660,15302935,14574404,12477932,8724849,12890497,10837489,18029348,19705920,20855536 9774 NM_014739,AK309259,AK315884,BC016682,BC047687,BC047887,BC056894,BC063846,BC078160,BC132780,BC144281,BC144282,BC144299,BX107174,BX537576,BX648431,BX648878,BX649160,CR620023,D79986,NM_001077441,NM_001077440,AL121713,CH471051,AF249273,AK303559,AK308870 NP_055554,BAF98775,AAH16682,AAH47687,AAH47887,AAH56894,AAH63846,AAH78160,AAI32781,AAI44282,BAA11481,Q6DCA8,Q9NYF8,NP_001070909,NP_001070908,CAB96722,EAW47949,EAW47950,EAW47951,EAW47952,AAF64304,BAH13985 Hs.486542 BTF|KIAA0164|bK211L9.1 bcl-2-associated transcription factor 1 protein-coding 1346552 BCMO1 beta-carotene 15,15'-monooxygenase 1 Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq] 634553,1580863 19185284,19103647,18282583,17951468,16504037,15489334,14702039,12477932,11401432,10799297,20221844,20599666,10766819,18464913,19662379,19844255,15583024,18295589 634553 53630 NM_017429,NG_012171,AC009148,AC131888,CH471114,AF294900,AK001592,AK296011,BC022269,BC126210,BC126212 NP_059125,EAW95537,EAW95538,AAG15380,BAA91776,BAG58782,AAI26211,AAI26213,Q9HAY6,ADR83052 Hs.212172 BCDO|BCDO1|BCMO|BCO|BCO1|FLJ10730 beta,beta-carotene 15,15'-monooxygenase|beta-carotene 15, 15'-dioxygenase 1|beta-carotene dioxygenase 1 protein-coding 1319131 BCO2 beta-carotene oxygenase 2 BCDO2 catalyzes the asymmetric oxidative cleavage of beta-carotene in carotene metabolism (Kiefer et al., 2001 [PubMed 11278918]).[supplied by OMIM] 1580863 11278918,15983114,15949678,14702039,12477932,8889548,16712791,18464913,20150558,19913121,20628086 83875 NM_031938,NM_001037290,AP002884,CH471065,EF444956,AB096252,AF276432,AJ290393,AK027801,AK091783,AK297853,AK315300,BC041656,BC047934,BU732625,BX503569,CB162567,CD708042 NP_114144,NP_001032367,EAW67189,EAW67190,EAW67191,EAW67192,EAW67193,EAW67194,ACA05952,AAK69433,CAC27994,BAB55379,BAC03747,BAG60185,BAG37705,AAH41656,Q8IUS0,Q8NAZ7,Q9BYV7 Hs.728325 B-DIOX-II|BCDO2|FLJ34464 OTTHUMP00000196941|b,b-carotene-9',10'-dioxygenase|beta,beta-carotene 9',10'-dioxygenase variant 1|beta,beta-carotene 9',10'-oxygenase|beta-carotene 9',10' oxygenase|beta-carotene dioxygenase 2 protein-coding 1606540 BCOR BCL6 co-repressor The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16943429,10898795,15878880,17517692,18280243,16713569,15770227,15489334,15302935,14702039,12776190,12522145,12477932,12116202,11777915,10997877,9373149,8125298,15004558,19578371 54880 NM_001123384,NM_001123383,NM_001123385,NM_017745,NG_008880,AC091806,AC092198,AL591802,CH471141,AB046795,AF317391,AF317392,AK000292,AK056538,AK074286,AK095360,AK225581,AL698729,AY316592,BC009675,BC063536,BC114220,BC128387,BC128456 NP_001116856,NP_001116855,NP_001116857,NP_060215,EAW59425,EAW59426,EAW59427,EAW59428,EAW59429,EAW59430,BAB13401,AAG41429,AAG41430,BAA91061,BAB85037,BAG53034,AAR08265,AAH09675,AAH63536,AAI14221,AAI28388,Q6W2J9 Hs.659681 ANOP2|FLJ20285|FLJ38041|KIAA1575|MAA2|MCOPS2|MGC131961|MGC71031 BCL-6 corepressor|BCL-6 interacting corepressor|BCL6 co-repressor|OTTHUMP00000025761|OTTHUMP00000025767 protein-coding 1346589 BCORL1 BCL6 co-repressor-like 1 17697391,17379597,14702039,12477932,16344560,18029348 63035 NM_021946,AL034405,AL136450,CH471107,Z82208,AI209024,AK021424,AK024395,AK074089,AK124676,AL096777,BC044652,BE246581,BE244710,CR621400,DA227697,NG_021274 AAI56743,NP_068765,CAI42884,CAI42885,EAX11815,EAX11816,EAX11817,EAX11818,CAI42768,CAI42769,CAI42770,BAB13821,BAB84915,BAC85922,CAB46626,AAH44652,Q5H9F3,Q86YA6,Q9HAM3 Hs.496748 B930011H20Rik|BCoR-L1|CXorf10|FLJ11362|FLJ11632 BCL-6 corepressor-like protein 1|BCL6 co-repressor-like 1|BCoR-like protein 1|OTTHUMP00000023996 protein-coding 1344218 BCORL2 BCL6 co-repressor-like 2 14702039,12815422,12477932,9847074 286554 NR_033732,NR_002923,AC010137,AK097140,AK303164,BC063452,BC110520,BC110521,BC122539 BAC04961,BAG64264,Q8N888 Hs.211713 BCORL2|FLJ39821 BCoR-like protein 2 pseudo 1344777 BCPM benign chronic pemphigus (Hailey-Hailey disease) 7981684 1317506 BCR breakpoint cluster region A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1600510,1600511 20015884,20141430,20442314,1903516,1657398,19240172,19203346,19135771,19067742,19061839,19048492,19020542,18827185,18809762,18794796,18784740,18704194,18676680,18617057,18603549,18603297,18549649,18538733,18503828,18495245,18474292,18406872,18406870,18391951,18385754,18354488,18287094,18246120,18227349,18082628,18070886,17939855,17934518,17928051,17822820,17768128,17762503,17710227,17638918,17638851,17597804,17579186,17374743,17349636,17347407,17303698,17196995,17145570,17102890,17090304,17081983,17018862,16998483,16966279,16955467,16914906,16912036,16888785,16855631,16849647,16670264,16631477,16598834,16596225,16543472,16502580,16502579,16494625,16490599,16481037,16469868,16449534,16442619,16442529,16418324,16264277,16116902,16079118,15968309,15866548,15857938,15735728,15723338,15716990,15684424,15626746,15542838,15494376,15489334,15481444,15389825,15248918,15145216,15144186,14993251,14966468,14961028,14702039,14656881,14654084,14581377,14534537,12890867,12821944,12808105,12781448,12764153,12734675,12560071,12556557,12522270,12477932,12408765,12370803,12145699,12144533,12115002,12114534,12096337,12023981,11790798,11780146,11746971,11376433,11069024,10887126,10508479,9949177,9874796,9747873,9566916,9467953,9407116,9211920,9209414,9178913,9053848,8955135,8756631,8622703,8502487,8453102,8204871,8112292,7939633,7724587,7665185,7529874,7506601,6584200,6319012,6316147,6281890,3540951,3463934,3422516,3285291,3194194,3118359,3107980,3023859,2989703,2989692,2915904,2825022,2263470,2193202,1900918,1868241,1763041,1712671,1706781,1317490,9535855,9788431,15143164,10887132,10706130,8641358,7534286,12543778,16169070,9071815,7606002,8757502,12393433,12592324,10849448,10194128,8978305,9872323,8195176,2678002,2407300,1383690,20633771,20207846,20697350,20452982,16045749,16825666,17643375,19170196,19261608,19295548,19369965,19557636,19571320,19608682,19615732,19619277,19625176,19625707,19652056,19692168,19718053,19724931,19840940,19876398,19911011,20007699,20010464,20028985,20038234,20351714,20463552,20379614,16778200,20739956,20520635,20607847 1600510,1600511 613 NM_021574,NG_009244,CH471095,L02935,M15025,M55395,U07000,X52828,X52829,AB209991,AF192533,AF487522,AK122842,AK124310,AK128501,AK303241,AM491360,AY533677,AY536245,AY536246,AY536247,AY536248,AY536249,BC031568,BC041705,BC053641,BC063619,BC066122,BC071742,BC083493,BQ422888,CR623143,EU216058,EU216059,EU216061,NM_004327,EU216062,EU216063,EU216064,EU216067,EU216069,EU216070,EU394718,M64437,X02596,X06418,X14676,Y00661 NP_004318,NP_067585,EAW59564,EAW59565,EAW59566,EAW59567,EAW59568,EAW59569,EAW59570,AAA35594,AAB60388,AAB60389,AAB60390,CAA37010,CAA37011,BAE06073,AAF61858,AAL99544,BAG64327,CAM33010,AAS57923,AAS46907,AAS46908,AAS46909,AAS46910,AAS46911,AAH83493,ABX82700,ABX82701,ABX82703,ABX82704,ABX82705,ABX82706,ABX82709,ABX82711,ABX82712,ABZ01959,AAN76489,CAA26441,CAA29726,CAA32806,CAA68676,P11274,Q12843,Q12844,Q13746,Q16189,Q6QJE3,Q6QJE4,Q6QJE5,Q6QJE6,Q6QJE7,Q6QJE8,Q6QME9,Q8TDA2 Hs.517461,Hs.715409,Hs.721650 ALL|BCR1|CML|D22S11|D22S662|FLJ16453|PHL breakpoint cluster region protein|renal carcinoma antigen NY-REN-26 protein-coding 1349428 BCRL2 breakpoint cluster region-like 2 3267213 614 1352977 BCRL3 breakpoint cluster region-like 3 3267213,10591208,16344560,3267213 615,644165 AK297038,AP000356,AW193769,BM920079,BX090183,DB345226,NR_024494 BAG59566 Hs.531306,Hs.655234,Hs.725174 BCR3|BCRL3|BCRL6 pseudo 1344297 BCRL4 breakpoint cluster region-like 4 10591208,9074928 616 NG_000002,D87002 BCR-4|BCR4|BCRL4 pseudo 1346208 BCRL5 breakpoint cluster region-like 5 10591208 648980 NG_009418,AC007050 BCRL5 breakpoint cluster region-like 5 pseudo 1353768 BCRL6 breakpoint cluster region-like 6 10591208 23775 AP000359 breakpoint cluster region-like 6 protein-coding 4144675 BCRP1 breakpoint cluster region pseudogene 1 3267213 644079 AP000354,NG_009423 BCR-1 pseudo 4144530 BCRP6 breakpoint cluster region pseudogene 6 728468 AP000552,NG_009421 pseudo 4144517 BCRP7 breakpoint cluster region pseudogene 7 100133163 AC008103,AC008132,NG_009420 pseudo 4144531 BCRP8 breakpoint cluster region pseudogene 8 100133044 AADB02020447,U07000 pseudo 1347169 BCS1L BCS1-like (yeast) This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Two alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq] 1600515,1580863 18628306,9878253,19162478,18386115,17403714,17314340,16344560,15489334,14702039,12477932,12215968,11528392,9792866,19389488,19508421,9545407,9373149,9110174,8619474,8599931,8125298,16169070,20518024,20877624 1600515 617 BX571752,CR591888,CR592297,CR600555,CR607471,CR621030,CR623232,CR623638,DA540458,NM_001079866,NG_008018,AC009974,AC079810,AF346835,AF516670,CH471063,AF026849,AF038195,AK096210,AK223518,AK289363,BC000416,BC007500,NM_004328 CAE11877,Q53EX1,Q53RT4,Q9Y276,ABM82803,ABM85990,ACE87685,ACE86996,NP_004319,NP_001073335,AAY24033,AAK29417,AAN05490,EAW70634,EAW70635,EAW70636,EAW70637,EAW70638,EAW70639,EAW70640,AAD08638,AAB97365,BAG53231,BAD97238,BAF82052,AAH00416,AAH07500 Hs.471401 BCS|BCS1|BJS|FLNMS|GRACILE|Hs.6719|PTD|h-BCS BCS1-like protein|h-BCS1|mitochondrial chaperone BCS1|mitochondrial complex III assembly protein-coding 1349102 BCYRN1 brain cytoplasmic RNA 1 (non-protein coding) This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. [provided by RefSeq] 17553964,16054886,15240511,11399078,9858834,8265590,7684772 618 NR_001568,NG_005471,AC079775,AF020057 BC200|BC200a|NCRNA00004 miscrna 1352984 BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 8265590,7684772 619 NG_003040,AL161777,U01307 BC200b pseudo 1343553 BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 8265590,7684772 620 AADB02001168,ABBA01048064,NG_001085,U01308 BC200g pseudo 737289 BDH1 3-hydroxybutyrate dehydrogenase, type 1 This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1580863,2326093,2326100,4105460 1639787,19027726,15489334,12477932,11752456,11009606,10933785,8889549,8679568,8615695,7686368,17207965,20877624 2326093,2326100,4105460 622 NM_004051,NM_203314,AC128709,AC132008,CH471191,AK126701,AV645953,BC005844,BC011964,BC019317,BC021183,BE782251,BI601294,BQ897235,CR599815,CR611996,CR626354,EF095211,H80183,M93107,NM_203315 NP_976060,NP_004042,NP_976059,EAW53606,EAW53607,EAW53608,EAW53609,AAH05844,AAH11964,AAH19317,ABL01515,AAA58352,Q02338,ADQ32361 Hs.274539 BDH|MGC2723|MGC4347|MGC9788|SDR9C1 (R)-3-hydroxybutyrate dehydrogenase|3-hydroxybutyrate dehydrogenase (heart, mitochondrial)|D-beta-hydroxybutyrate dehydrogenase, mitochondrial|OTTHUMP00000208057|OTTHUMP00000208058|OTTHUMP00000208059|OTTHUMP00000208060|short chain dehydrogenase/reductase family 9C, member 1 protein-coding 1604606 BDH2 3-hydroxybutyrate dehydrogenase, type 2 20332099,15489334,14702039,12975309,12477932,10931946,16380372,19027726 56898 NM_020139,AC097485,CH471057,AF164790,AK023323,AK128463,AK290160,AK291335,AK300626,AW136198,AY358841,BC001953,BC037277,BC095414,BI544872,CR457309,CR599040,CR601062,CR605040,CR625169,HB929452,HB945850,HB959532,HC986861,HD003260,HD016942 NP_064524,EAX06163,EAX06164,EAX06165,EAX06166,EAX06167,EAX06168,AAF80754,BAB14526,BAG54681,BAF82849,BAF84024,BAG62318,AAQ89200,AAH01953,AAH37277,AAH95414,CAG33590,Q9BUT1,CBF99640,CBG07667,CBG14351,CBV13160,CBV21189,CBV27865 Hs.124696 DHRS6|EFA6R|FLJ13261|PRO20933|SDR15C1|UCPA-OR|UNQ6308 3-hydroxybutyrate dehydrogenase type 2|R-beta-hydroxybutyrate dehydrogenase|dehydrogenase/reductase (SDR family) member 6|dehydrogenase/reductase SDR family member 6|oxidoreductase UCPA|short chain dehydrogenase/reductase family 15C, member 1 protein-coding 1351481 BDH2P1 3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1 389416 NG_005299,AL591803 DHRS6P1|bA758C21.1 dehydrogenase/reductase (sdr family) member 6 pseudogene 1 pseudo 1342712 BDK bradykinin 589 730874 BDKRB1 bradykinin receptor B1 Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. [provided by RefSeq] 2313334,704381,704378,1580863,704379,704380,1625733,1625732,628496,1579989 17327486,17303584,17128974,17110500,16644486,15883268,15840906,15837330,15805101,15705059,15681300,15643125,15634338,15520046,15492119,15489334,15033977,14499231,12481150,12477932,12450400,12165532,12130679,12063092,12025967,11880373,11710536,11025765,10329474,10188626,8995263,8808279,18240029,19120546,19184415,19404481,19546528,19641039,19661485,19725054,19796797,19885862,20152050,20448019,10422787,8063797,9930991,19086053,19082699,19038786,18938142,18809736,18577888,18467203,18187413,18039525,18039523,17878384,17852785,17328065,8660997,8651911,11278902,18577758,16754659,19913121,20628086,21052031 2313334,704381,704378,704379,704380,1625733,1625732,628496,1579989 623 NM_000710,AB065896,AL355102,AY275464,CH471061,L42383,U22346,U48231,AF117819,AJ238044,AK291970,AK309528,BC034705,U12512,W49512 NP_000701,BAC06112,AAP32296,EAW81632,AAC50594,AAB60693,AAD17233,CAB45650,BAF84659,AAH34705,AAA21346,P46663,Q71U72,ABM82202,ABM85390 Hs.525572 B1BKR|B1R|BKB1R|BKR1|BRADYB1 B1 bradykinin receptor|BK-1 receptor|bradykinin B1 receptor|bradykinin receptor 1 protein-coding 737386 BDKRB2 bradykinin receptor B2 This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq] 704379,2313334,2313332,2313335,1331525,1580863,704378,4890456,4890451,4891041,4891031,4891040,4891042,4891055,4890452,4890450,4890453,4890457,4891024,4891039,4890454,4891044,4891028,4891033,4891026,4891030,4891032,4891034,4891025,4891027,4890455,4891029,4891047 8302267,17077303,10993080,1314587,10653985,7916737,19420105,19339996,19110485,19086053,19082699,19074839,19038786,19017652,18938142,18927465,18810490,18672896,18577888,18467203,18430865,18258629,18187413,18180402,18096516,18039523,17852785,17593394,17569300,17522594,17420253,18240029,19120546,19404481,19456859,19565561,19578796,19580784,19628666,19716087,19725054,19744011,19854233,19885862,20036225,20044476,20045189,20050188,20201926,20300066,20511677,2834384,17363739,17328065,17327486,17303584,17299793,17207964,17110500,17030791,16950802,16740128,16600946,16489763,16461337,16344560,16294326,16263113,16144969,15894833,15805101,15771553,15664665,15654972,15643126,15643125,15634338,15489334,15301669,15281091,15161928,15117835,15114524,15112434,15033977,14607851,14499231,12851878,12705334,12640257,12522467,12489797,12481150,12477932,12450400,12177051,12130679,12107246,12063092,12039525,12025967,11954665,11908480,11747451,11710536,11699055,11517947,11517230,11446495,11409654,11324803,10748135,10681501,10510297,10469138,10188626,10085087,8900488,8777990,8652530,8394991,8063797,7835885,7779090,7779089,1329734,15664511,16754659,19913121,20473401,20592051,20602751,20628086,20856803,20944660,20952631,21052031 704379,2313334,2313332,2313335,1331525,704378,4890456,4890451,4891041,4891031,4891040,4891042,4891055,4890452,4890450,4890453,4890457,4891024,4891039,4890454,4891044,4891028,4891033,4891026,4891030,4891032,4891034,4891025,4891027,4890455,4891029,4891047 624 AF378542,AL355102,CH471061,L27594,S45489,S56772,X86162,X86172,X86173,AI095360,AK299316,AK311049,AY275465,BC074894,BC074895,CR749338,DA096163,DC422332,M88714,X69680,NM_000623,X86164,X86165 NP_000614,AAK56376,EAW81629,AAB23467,AAB25765,BAG61326,AAP32297,AAH74894,AAH74895,CAH18192,AAB02793,CAA49360,CAA60108,CAA60109,P30411,Q68DM8,Q6LAU9 Hs.654542,Hs.726620 B2R|BK-2|BK2|BKR2|BRB2|DKFZp686O088 B2 bradykinin receptor|BK-2 receptor protein-coding 1348244 BDM behavior disorder modifier 625 1354326 BDMR brachydactyly-mental retardation syndrome 7847374 626 731027 BDNF brain-derived neurotrophic factor The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq] 631710,1331525,734643,734644,1580863,1300048,4891135,4891140,4891064,4891067,4891069,4891117,4891121,4891138,4891066,4891113,4891125,4891111,4891131,4891112,4891116,4891122,4891123,4891136,4891137,4891119,4891139,4891110,4891127,4891134,4891063,4891129,4891132 20112124,20175187,20428771,19493166,19475530,19473771,19473709,19473353,19453261,19424874,19419774,19414708,19412541,19406621,19394799,19388013,19383424,19365399,19359449,19352218,19352215,19349604,19339052,19336781,19335934,19330778,19328558,19308959,19307055,19295510,19295238,19270710,19260143,19258661,19255578,18543122,18535997,18534558,18518926,18505307,18504448,18501457,18497103,18497100,18497099,18497095,18478177,18472202,18460776,18454098,18450378,18438945,18438930,18434641,18434373,18428117,18408624,18402781,18384075,18379473,18379218,18347599,18329817,18325670,18294085,18291105,18286632,18263664,18253057,18249074,18242855,18242852,18205169,18203754,18191449,18182069,18179845,18179783,18075316,18069415,18068900,18062171,18061279,18059328,18056245,18043709,17988784,17987059,17973920,17959306,17942328,17941097,17922530,17920693,17918236,17911362,17895927,17894414,17893696,17889702,17885603,17884018,17883407,17869486,17853300,17850220,17845420,17804189,17761923,17702963,17680923,17669628,17657167,17656372,17653045,17632285,17629449,17628439,17621170,17611278,17611164,17604122,17590513,17584309,17579366,17522015,17510948,17505499,17493809,17482146,17460549,17435670,17427194,17427191,17427185,17419735,17417060,17413445,17404118,17401528,17392738,17376155,17375136,17373693,17366345,17349978,17293537,17289348,17284422,17267117,17241828,17239400,17229524,17222482,17219016,17217930,17216343,17210134,17197106,17196936,17186223,17167336,17161975,17151862,17130481,17096834,17092970,17044097,17036259,17012654,17010953,17006024,16979146,16962724,16905325,16901635,16899999,16897602,16890384,16890377,16876305,16872631,16869232,16854566,16848784,16847693,16846718,16824691,16823800,16818862,16807663,16797081,16787706,16786155,16741941,16741916,16740142,16713371,16707914,16698101,16680163,16649215,16648236,16648150,16633140,16631352,16627933,16623937,16606648,16604191,16581172,16568151,16565926,16541456,16538178,16533563,16513879,16497333,19236730,19220486,19219857,19219856,19217756,19215635,19210038,19209189,19207030,19205731,19193231,19170664,19167700,19156168,19156154,19153574,19142409,19133315,19120063,19111910,19095219,19088493,19086053,19079260,19077115,19071096,19058789,19054571,19050044,19038326,19018715,19018714,19018231,19013140,19012000,18990498,18986649,18982004,18980528,18977816,18975254,18958212,18958211,18958202,18957941,18950757,18946637,18937842,18856059,18852698,18845611,18843195,18842305,18838100,18830907,18830724,18826446,18821565,18813964,18801407,18797396,18797348,18786162,18781277,18780967,18780207,18759323,18757701,18753648,18752720,18729623,18727839,18721847,18721261,18713973,18707679,18707012,18704093,18692116,18667348,18664999,18657242,18644006,18637190,18632683,18628679,18621091,18611289,18607773,18606495,18603262,18603005,18602732,18602452,18600033,18596619,18596609,18580852,18571954,18548532,12842310,12836135,12753507,12742659,12738784,12719654,12694935,12568867,12553913,12531456,12524161,12480128,12477932,12397373,12359171,12358753,12192623,12161822,12140781,12140770,12130635,12008958,11935372,11923430,11840487,11836300,11782995,11408619,11244490,11214319,11166915,11152678,10760298,10493752,10391209,9990022,9580557,9519408,9387865,9312147,9118804,8869564,8527932,8174548,7961712,7703225,2230938,2025430,1889807,1889806,1339267,9878821,11855816,12851636,20227453,20410295,20141276,20331634,20350583,20463055,20702703,20067661,20690185,20921514,20649532,20600926,20656764,19493959,16472361,15537879,12888803,2236018,19641488,19637400,19626271,19622243,19603419,19598235,19589503,19589373,19555478,19548263,19542613,19538209,19530966,19526102,19522715,19519623,19517061,19506906,19504537,19500776,16109452,16105728,16056149,16054753,16046000,16043130,16039058,16005437,15987945,15970929,15949651,15940299,15940292,15935057,15918078,15913964,15913870,15900221,15899246,15896496,15896483,15866349,15843069,15838855,15837123,15816823,15772739,15770238,15768049,15726264,15719396,15710474,15666411,15665077,15664176,15657604,15657181,15647480,15635706,15630410,15626824,15626819,15596541,15567073,15547445,15544837,16139165,15543516,15541709,16458264,16446742,16446138,16442082,16441896,16406671,16391475,16389585,16388901,16388065,16356643,16344533,16343697,16314750,16301096,16222333,16186425,16172806,16166223,16152573,16152572,15526143,15489334,15459944,15457498,15384083,15375678,15337270,15336520,15279867,15274036,15177062,15120095,15118353,15115760,15108194,15094483,15084795,14997020,14730195,14730194,14715936,14681916,14673216,14642442,14636373,14623369,14582140,14566559,12951204,12921913,12912764,12900521,12890761,18315925,18583979,19190539,19358879,19371767,19376528,19387610,19409951,19457211,19461660,19463996,19477225,19481324,19491202,19508998,19548207,19560628,19562947,19565181,19573260,19582565,19626994,19642024,19653783,19661618,19668114,19683059,19692490,19699537,19711359,19721846,19738930,19745020,19746409,19748969,19776380,19805324,19812171,19812463,19817874,19844571,19847468,19851340,19857550,19864562,19874574,19874854,19884612,19885623,19889475,19895626,19896331,19897599,19899670,19914329,19923361,19923466,19923862,19925205,19931400,19944766,19953912,19956404,19958603,19961866,19996106,19997080,20004415,20006992,20013430,20014955,20016225,20022223,20033742,20034542,20037522,20042999,20061032,20075215,20079575,20085561,20087404,20097294,20098437,20125193,20140603,20141627,20142305,20142488,20147969,20153759,20160224,20163778,20167454,20169377,20172611,20172629,20175892,20193311,20195291,20196181,20201430,20205668,20213725,20215397,20219210,20220593,20226536,20230085,20345896,20346518,20351714,20358425,20395113,20398943,20400928,20410875,20413850,20418890,20420877,20430595,20433887,20434221,20456319,20468064,20478625,20478633,20478698,20482942,20483468,20491609,20491871,20493546,20515362,20520848,20537407,20547043,20436453,20708907,20156366,20207421,20467874,20553817,20615547,20935630,20556464,20583129,20631062,20673758,20736000,19913121,19937367,20534741,20553751,20571754,20573217,20574532,20579509,20589104,20602615,20613678,20628086,20633049,20638435,20653606,20655300,20662941,20662942,20667458,20674983,20674984,20682308,20703451,20726824,20726825,20728877,20733583,20736957,20738408,19578686,20842321,20515664,20334574,20538960,20691427,20712903,20724581,20734064,20738025,20800603,20816195,20843981,20865733,20921572,20943059,20946355,20953813,20959432,20965453,20966902,20970479,20978454,21037213,21041608,21044653,21048129,21049025,21049304,21056046,21063237 631710,1331525,734643,734644,4891135,4891140,4891064,4891067,4891069,4891117,4891121,4891138,4891066,4891113,4891125,4891111,4891131,4891112,4891116,4891122,4891123,4891136,4891137,4891119,4891110,4891127,4891134,4891129,4891132 627 AB038672,AB038673,AB038674,AF400438,AK289763,AK289853,AY054392,AY054393,AY054394,AY054395,AY054396,AY054397,AY054398,AY054399,AY054400,AY054406,AY442188,AY656701,BC029795,CR616691,CX751420,DQ250642,EF674517,EF674518,EF674519,EF674520,EF674521,EF689009,EF689010,EF689011,EF689012,EF689013,EF689014,EF689015,EF689016,EF689017,EF689018,EF689019,EF689020,EF689021,M61176,X60201,X91251,AB038671,NM_170732,NM_001143806,NM_001143805,NM_001143807,NM_170733,NM_001143809,NM_001143810,NM_001143811,NM_001143808,NM_001143812,NM_001709,NM_001143814,NM_001143813,NM_170734,NM_170735,NM_001143816,NG_011794,AC103796,AC104563,AF411339,AY011481,CH471064,M37762,M61181,X60202,AB038670,NM_170731 BAB55546,BAB55547,BAB55548,BAB55549,AAK92487,BAF82452,BAF82542,AAL23557,AAL23558,AAL23559,AAL23560,AAL23561,AAL23562,AAL23563,AAL23564,AAL23565,AAL23571,AAR14686,AAT74399,AAH29795,ABB51155,ABS29021,ABS29022,ABS29023,ABS29024,ABS29025,ABS32249,ABS32250,ABS32251,ABS32252,ABS32253,ABS32254,ABS32255,ABS32256,ABS32257,ABS32258,ABS32259,ABS32260,ABS32261,AAA69805,CAA42761,CAA62632,P23560,Q304R1,Q6T2C9,BAB55545,NP_733927,NP_733928,NP_001137278,NP_001137277,NP_001137279,NP_733929,NP_001137281,NP_001137282,NP_001137283,NP_001137280,NP_001137284,NP_001700,NP_001137286,NP_001137285,NP_733930,NP_733931,NP_001137288,AAO15434,AAG47514,EAW68274,EAW68275,EAW68276,EAW68277,EAW68278,EAW68279,AAA51820,AAA96140,Q6YNR1,Q969N8,Q96TC2,ABM81737,ABM84892 Hs.502182 MGC34632 abrineurin|brain-derived neurotrophic factor|neurotrophin protein-coding 1344282 BDNFOS BDNF opposite strand (non-protein coding) 17629449,15666411,19079260 497258 AJ011597,NR_002832,AC087750,AC100771,AC104563,AY054391,AY054401,AY054402,AY054403,AY054404,AY054405,AY513486,NR_033312,NR_033313,NR_033314,NR_033315 Hs.675323 ANTI-BDNF|BDNF-AS|BDNFOS|BT2A|BT2B|BT2C|BT2D|NCRNA00049 miscrna 1318324 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. 1580863 18391023,17499043,16542149,15469824,15342556,15096501,14592981,14527415,12477932,11214970,11161782,11040218,10574462,9171375,9169441,20379614 55814 NM_018429,AC138832,AJ278892,AJ279120,AJ279144,AJ279145,AJ279146,AJ279147,AJ279148,AJ279149,AJ279150,CH471084,AB033067,AB051476,AF176695,AF298151,AF298152,AI537645,AJ238520,AK057871,BC032146,BC146792,BC161615,BP246483,BP347992,BX641011,CR749229,CR749289 NP_060899,CAC17771,CAC21448,EAW95688,EAW95689,BAA86555,BAB21780,AAG09268,AAG30220,AAG30221,CAC04245,BAB71602,AAH32146,AAI46793,AAI61615,CAE46010,CAH18085,CAH18144,A6H8Y1 Hs.258272 DKFZp686C01233|DKFZp686K0831|HSA238520|KIAA1241|KIAA1689|TAF3B1|TFC5|TFIIIB''|TFIIIB150|TFIIIB90|TFNR OTTHUMP00000222182|OTTHUMP00000222187|RNA polymerase III transcription initiation factor B''|TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1|transcription factor IIIB 150|transcription factor TFIIIB component B'' homolog|transcription factor-like nuclear regulator protein-coding 2289748 BDP1P B double prime 1 pseudogene 724038 NG_005602,AC124254 pseudo 4144982 BEAN1 brain expressed, associated with NEDD4, 1 The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 11042109,12477932,14702039,19878914,8619474,8889548,9110174 146227 AB472390,AB472391,AB472392,AB472393,AB472394,AB472395,AB472396,AB472398,AB472399,AC132186,AF070610,AK056142,BC000818,BC105723,BC105724,BC107477,BM666201,CH471092,NG_021403,NM_001136106,NM_001178020,NM_001197224,NM_001197225 AAI07478,BAG51632,EAW83011,NP_001129578,NP_001171491,NP_001184153,NP_001184154,Q3B7T3 Hs.97805 BEAN|SCA31 protein BEAN protein-coding 733440 BECN1 beclin 1, autophagy related 634559,1643194,1643198,1643329,1580863,4889529 19270693,19713971,9765397,19375507,19347031,19325567,19318089,19298604,19289499,19180116,19060920,19050071,18843052,18829541,18797192,18769161,18641390,18628207,18552835,18497889,18497881,20639699,20473282,20150769,20190558,18184403,18005679,17999086,17786023,17659302,17643073,17595761,17589504,17550384,17446862,17438366,17337444,17272502,17203225,16874027,16857678,16718815,16713569,16522639,16390869,16267277,15922724,15489334,14970205,14966907,12477932,12372286,11564866,11309306,11306555,10604474,10395800,9373149,8125298,7829101,7490091,19798108,20559548,20638385,20562859,20842118,20207475,20697744,19921231,20643123,17236580,17355787,17441324,17441338,18184459,19066461,19130303,19145109,19218137,19270696,19372752,19395874,19520853,19535901,19535919,19556884,19641499,19680556,19762066,19778902,20004946,20009549,20010695,20023428,20090905,20206246,20230646,16417406,20937944 634559,1643194,1643198,1643329,4889529 8678 NM_003766,AC016889,CH471152,AF077301,AF139131,AK223411,AK298619,AK299616,AK312651,BC010276,BI496049,BX647788,DC296896,L38932 NP_003757,EAW60888,EAW60889,EAW60890,AAC68653,AAD27650,BAD97131,BAG60798,BAG61544,BAG35534,AAH10276,AAB59573,Q14457,Q53F78,ABM82559,ABM85749 Hs.716464 ATG6|VPS30|beclin1 ATG6 autophagy related 6 homolog|beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)|beclin 1 (coiled-coil, moesin-like BCL2-interacting protein)|beclin 1 (coiled-coil, myosin-like bcl2-interacting protein)|beclin-1|coiled-coil myosin-like BCL2-interacting protein protein-coding 4106408 BECN1P1 beclin 1, autophagy related, pseudogene 1 16710414,20529838,20564222,20589936 441925 BX571673,NG_022940 A8MW95 BECN1L1 pseudo 731845 BEGAIN brain-enriched guanylate kinase-associated homolog (rat) 16189514,18029348,17081983,16964243,16713569,15489334,12477932,10819331,12097487,9756850,21102462 57596 NM_020836,NM_001159531,AL845552,CH471061,AB040879,BC002607,BG333264,AL390162 NP_065887,NP_001153003,EAW81707,EAW81708,BAA95970,CAB99094,AAH02607,Q9BUH8,ACE87713,ACE87027 Hs.728336 KIAA1446 brain-enriched guanylate kinase-associated protein protein-coding 1350095 BEND2 BEN domain containing 2 737633 16713569,15772651,15489334,12477932,19455595 737633 139105 NM_153346,AL096763,CH471074,AK128155,BC037301,BC096745,BX952865,NG_021323,NM_001184767,Z92547 NP_699177,CAI42219,EAW98936,BAG54640,AAH37301,AAH96745,Q4V9S2,Q8NDZ0,ABM83396,ABM86609,NP_001171696 Hs.403802 CXorf20|MGC33653 BEN domain-containing protein 2 protein-coding 1347685 BEND3 BEN domain containing 3 12477932,10997877,19615732 57673 NM_001080450,AL355586,AB046773,AK026996,BC131628 NP_001073919,CAI16110,BAB13379,AAI31629,Q5T5X7 Hs.418045 KIAA1553|RP11-59I9.2 BEN domain-containing protein 3|OTTHUMP00000016928 protein-coding 1605502 BEND4 BEN domain containing 4 14702039,12477932 389206 NM_207406,NM_001159547,AC111006,CH471069,AA757195,AB126828,AB126829,AK092951,AK125953,BC128592,BC128593,CR624996 NP_997289,NP_001153019,EAW93001,BAD93191,BAD93192,BAC86359,AAI28593,AAI28594,Q6ZU67,AAI46594,AAI48434 Hs.120591 CCDC4|FLJ35632|FLJ43965|MGC157807|MGC157808 BEN domain-containing protein 4|OTTHUMP00000218402|OTTHUMP00000218403|OTTHUMP00000218405|OTTHUMP00000218406|coiled-coil domain containing 4|coiled-coil domain-containing protein 4 protein-coding 1606228 BEND5 BEN domain containing 5 14702039,12477932,8889548,16189514,15489334,17207965,16169070,16713569 79656 NM_024603,AC097062,CH471059,AK021650,AK055449,BC007932,BC011804,BQ006447,BU743157,HI574312 NP_078879,EAX06848,EAX06849,EAX06850,EAX06851,EAX06852,BAB13864,BAG51519,AAH07932,AAH11804,Q7L4P6,ADQ32714,CBX47645 Hs.475348 C1orf165|FLJ11588 BEN domain-containing protein 5 protein-coding 1321272 BEND6 BEN domain containing 6 14702039,12477932 221336 NM_152731,AL450489,AL590037,CH471081,AI803591,AK054724,AK303705,AK315926,BC022988,BC036119,DC411761 NP_689944,CAI12113,CAI12115,EAX04469,BAB70799,BAH14024,BAH14297,AAH22988,AAH36119,Q5SZJ8 Hs.582993 C6orf65|FLJ30162|bA203B9.1 BEN domain-containing protein 6 protein-coding 1314203 BEND7 BEN domain containing 7 16189514,15489334,15164054,14702039,12477932,16385451,19060904 222389 NM_152751,NM_001100912,AL359172,AL590677,CH471072,AK097602,AL832195,BC029597,BC031618 NP_689964,NP_001094382,CAI12222,CAI12223,CAI12224,CAI12660,CAI12661,CAI12662,EAW86285,EAW86286,EAW86287,EAW86288,BAC05114,AAH31618,Q8N7W2 Hs.498740 C10orf30|FLJ40283|MGC35247 BEN domain-containing protein 7 protein-coding 1323228 BEST1 bestrophin 1 This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms. 1599738,1580863 18611979,19237432,19635817,19823864,19853238,20057903,17003041,9662395,19375515,19372599,19357557,19262692,19029375,18849347,18766995,18414923,18400985,18222922,18179881,17698758,17646752,17591911,17468957,17361457,17287362,17110374,17065513,16885924,16769844,16754206,16707793,16612637,15808248,15556645,15489334,15452077,20057343,20381869,20801516,20375334,11050159,10737974,19597114,19398034,15176385,14982938,13129869,12907679,12477932,12324875,12187431,12107410,12058047,12032738,11913792,11904445,11449320,11271465,11241846,10854112,10798642,10766140,10682987,10453731,10394929,10331951,9700209,9679014,9445487,1395087,1302019,838599,20349192,20530484 1599738 7439 AK295998,AK298747,AK301392,AK309076,AY515704,BC015220,BC041664,CA388926,NM_001139443,NG_009033,AF073500,AP003733,CH471076,AB209451,AF057169,AF057170,AF073501,AK289681,AK293701,AK294577,AK295450,AK295580,AK295838,NM_004183 BAH12234,BAH12865,BAH13472,AAR99654,AAH15220,AAH41664,O76090,Q59FK9,NP_004174,NP_001132915,AAC64926,EAW73982,EAW73983,EAW73984,EAW73985,EAW73986,EAW73987,EAW73988,BAD92688,AAC64343,AAC64344,AAC33766,BAF82370,BAH11574,BAH11817,BAH12072,BAH12111,BAH12198 Hs.524910,Hs.712676 ARB|BEST|BMD|RP50|TU15B|VMD2 Best disease|bestrophin-1|vitelliform macular dystrophy (best disease, bestrophin)|vitelliform macular dystrophy protein 2 protein-coding 1313368 BEST2 bestrophin 2 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq] 1580863 9373149,8125298,16912113,14702039,12907679,12477932,12032738,11904445,9700209,19237432,19398034,20157619,20407206 54831 NM_017682,AC018761,CH471106,AF440756,AK000139,AK225232,AY515705 NP_060152,EAW84304,AAM76995,BAA90970,AAR99655,Q8NFU1 Hs.435611 FLJ20132|VMD2L1 VMD2-like gene 1|bestrophin-2|vitelliform macular dystrophy 2-like 1|vitelliform macular dystrophy 2-like protein 1 protein-coding 1313470 BEST3 bestrophin 3 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM] 1580863 17442670,15489334,14702039,12907679,12477932,12032738,9700209,19237432 144453 NM_032735,NM_152439,AC025263,CH471054,AF440758,AK096459,AY515706,BC006440,BC028087,BC151138,CR612373,CR614874 NP_116124,NP_689652,EAW97234,AAM76997,BAC04797,AAR99656,AAH06440,Q8N1M1,AAI66663 Hs.280782 MGC13168|MGC40411|VMD2L3 bestrophin-3|vitelliform macular dystrophy 2-like 3|vitelliform macular dystrophy 2-like protein 3 protein-coding 1344321 BEST4 bestrophin 4 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq] 1580863 16710414,16702355,15489334,12907679,12477932,12032738,9700209,19237432 266675 NM_153274,AL592166,CH471059,AF440757,AY515707,BC101823,BM142321 NP_695006,CAI13005,EAX07022,AAM76996,AAR99657,AAI01824,Q8NFU0 Hs.302513 MGC126872|VMD2L2 bestrophin-4|vitelliform macular dystrophy 2-like 2|vitelliform macular dystrophy 2-like protein 2 protein-coding 732892 BET1 blocked early in transport 1 homolog (S. cerevisiae) This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 9382863,9094723,11927603,16189514,8621431,17081983,15489334,12853948,12690205,12477932,11323436,10449330,9847074 10282 NM_005868,AC006378,CH236949,CH471091,AF007551,AK313984,BC000899,BC012595,BG721261,BT009853,BX505568,CR601371,CR605582,CR614774,CR749267 NP_005859,AAD47132,EAL24137,EAW76800,EAW76801,EAW76802,EAW76803,AAB62941,BAG36696,AAH00899,AAH12595,AAP88855,CAH18123,O15155,Q53XK0,Q68DU7,Q96EA0,ABM85004 Hs.489132 DKFZp781C0425|HBET1 BET1 homolog|Bet1p homolog|Golgi vesicular membrane trafficking protein p18|OTTHUMP00000208603|OTTHUMP00000208604|OTTHUMP00000208605|OTTHUMP00000208606|golgi vesicular membrane-trafficking protein p18 protein-coding 1602713 BET1L blocked early in transport 1 homolog (S. cerevisiae)-like 15215310,16344560,15489334,15004235,14702039,12477932,12388752,11927603,11323436,11181995,11042152,9242691,9110174,8619474,19820697 51272 DA875317,DA880679,NM_016526,NM_001098787,AC069287,CH471278,AF151031,AF234160,AK022958,AK314273,AL833842,AY007148,BC000688,BC008971,BC016945,BC018839,BC032779,BC064025 Q9H4N3,Q9NYM9,Q9P0S7,ACE87669,ACE86980,NP_057610,NP_001092257,AAF36117,AAF37877,BAG51142,AAG02004,AAH08971,AAH32779 Hs.414418 BET1L1|GOLIM3|GS15|HSPC197 BET1-like protein|GOS-15|golgi SNARE 15 kDa protein|golgi SNARE with a size of 15 kDa|golgi integral membrane protein 3|vesicle transport protein GOS15 protein-coding 1342888 BET3L BET3 like (S. cerevisiae) 15489334,14702039,14574404,12477932,20379614 100128327 NM_001139444,AL121953,AL445224,AI090359,AI745276,AK002042,BC127757,BC127758,BE501784,BX280366,DY655209 NP_001132916,CAI21551,CAI12937,AAI27758,AAI27759,Q5T215 Hs.134795 FLJ11180|bA259P20.2 BET3-like protein|OTTHUMP00000017064|TRAPPC3-like protein|trafficking protein particle complex subunit 3-like protein protein-coding 1343861 BEVI baboon M7 virus integration site 628 1343764 BEX1 brain expressed, X-linked 1 1580863 19028701,16818640,15958283,15920485,15772651,15489334,12477932,11989783,12054873,12911636,16498402 55859 AK290958,AY833561,BC018615,BC126427,BC126429,BM465948,BX098763,CR613496,NM_018476,AL008708,CH471190,AF183416,AF220189,AF237783 BAF83647,AAX40679,AAI26428,AAI26430,Q9HBH7,NP_060946,CAI42418,EAW54723,AAG09685,AAF67654,AAG09752,ADR83467 Hs.334370 BEX2|HBEX2|HGR74-h brain-expressed X-linked protein 1|ovarian granulosa cell 13.0 kDa protein hGR74|protein BEX1 protein-coding 1353223 BEX2 brain expressed X-linked 2 737633,1580863 19412433,17638883,17251904,16818640,16314316,16189514,15958283,15772651,15489334,12054873,20482821,12477932,19711341,19835597 737633 84707 NM_032621,AL133348,CH471190,Z70233,AF251053,AK312085,AY833560,BC015522,BC050651,BI670202,CR606275,CR607680,BU569325,BU596902,CB961647,CD365521,CK001963,DB498563,NG_016254,NM_001168399,NM_001168400,NM_001168401 NP_116010,CAI43071,CAI43072,EAW54715,EAW54716,CAD24039,AAK34943,BAG35021,AAX40678,AAH15522,Q9BXY8,NP_001161871,NP_001161872,NP_001161873 Hs.398989 BEX1|DJ79P11.1 OTTHUMP00000023734|brain-expressed X-linked protein 2|hBex2|protein BEX2 protein-coding 1352390 BEX4 brain expressed, X-linked 4 737633,1580863 15958283,15772651,14702039,12477932 737633 56271 NM_001080425,NM_001127688,AL035494,CH471190,AK000959,AL544124,AV726729,AY833563,BC015794,BC068069,CR595447,CR598194,CR598850,CR600487,CR617571,CR620378,CR621550,CR624132,NG_021339 NP_001073894,NP_001121160,CAI42990,EAW54719,BAA91443,AAX40681,Q9NWD9,AAI48485,AAI56671 Hs.184736 BEXL1|FLJ10097 BEX family member 4|BEX1-like protein 1|brain expressed X-linked-like 1|nerve growth factor receptor-associated protein 3|protein BEX4 protein-coding 1348519 BEX5 brain expressed, X-linked 5 737633 18236150,15958283,15772651,15489334,12477932 737633 340542 NM_001012978,NM_001159560,CH471115,Z70719,AI985090,AY833564,BC042818,BC092450,BC106955 NP_001012996,NP_001153032,EAX02903,CAI42011,AAX40682,AAH42818,AAH92450,AAI06956,Q5H9J7 Hs.47209 MGC104434|MGC126446|NGFRAP1L1 BEX family member 5|NGFRAP1-like 1|NGFRAP1-like protein 1|brain-expressed X-linked protein 5|nerve growth factor receptor-associated protein 2|protein BEX5 protein-coding 1312438 BFAR bifunctional apoptosis regulator 1580863 10716992,18805781,15489334,14502241,12477932,19549727,19690564,20523265 51283 NM_016561,AC009167,CH471112,AF173003,AK291114,AK297067,AK300778,AK313890,BC003054,BI912683,BU621058,CR603825,CR608187,CR613606,CR620062 NP_057645,EAW85105,EAW85106,EAW85107,EAW85108,EAW85109,AAF59975,BAF83803,BAG59588,BAG62442,BAG36613,AAH03054,Q9NZS9,ABM81574,ABM84754 Hs.435556 BAR|RNF47 RING finger protein 47|bifunctional apoptosis inhibitor|bifunctional apoptosis regulator protein-coding 1350233 BFLS Borjeson-Forssman-Lehmann syndrome 630 737302 BFSP1 beaded filament structural protein 1, filensin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9628810,17225135,12477932,11780052,10909854,9787085,7781747,7720401,7679620,7615661,7504675,1918147,1478967 631 NM_001195,NM_001161705,NG_012423,AC010083,AF191047,AL031664,AL132765,CH471133,Y16718,Y16723,AF039655,AK304673,AK316247,BC041483,BF727338,U12622,Y16717 NP_001186,NP_001155177,AAG17186,CAB89430,CAI21689,CAH74032,EAX10277,EAX10278,CAA76349,AAB94939,BAH14235,BAH14618,AAH41483,AAA74423,CAA76348,Q12934 Hs.129702 CP115|CP94|LIFL-H OTTHUMP00000062713|beaded filament structural protein 1|cytoskeletal protein, 115 KD|filensin|lens fiber cell beaded-filament structural protein CP 115|lens intermediate filament-like heavy protein-coding 1347093 BFSP2 beaded filament structural protein 2, phakinin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq] 1600516,1580863 9628810,18958306,17982427,17200662,15570218,15489334,12477932,10753642,10739768,10729115,8889548,8636093,7720401,7504675 1600516 8419 NM_003571,NG_012425,AC022296,AC055753,AF195044,CH471052,BC113518,BC113520,BM667774,BM696370,U12621,U48224,GN344037 NP_003562,AAG30728,EAW79178,EAW79179,AAI13519,AAI13521,AAC50414,Q13515,ADR83175,CAY55954 Hs.659862 CP47|CP49|LIFL-L|MGC142078|MGC142080|PHAKOSIN 49 kDa cytoskeletal protein|beaded filament protein CP49|bfps2, Cytoskeletal protein, 49-kD|lens fiber cell beaded filament protein CP 47|lens fiber cell beaded filament protein CP 49|lens intermediate filament-like light|phakinin protein-coding 619567 BGLAP bone gamma-carboxyglutamate (gla) protein 1580863,2316184 10486212,12467198,12202187,11856645,17023519,10865224,19453261,19136823,19088165,18657532,18551993,18496130,18321663,18285546,18171674,18163903,17889845,17627084,17254772,2785029,2394711,2336375,15949438,20355242,20410230,20433876,20157712,19595020,20221651,20831864,17252541,17242729,17000892,16735944,16412323,16387359,16263577,15753298,15562030,15502821,15108070,15108065,12879219,12843190,12674332,12565780,12477932,12393937,12270142,12145306,12112004,11979972,11918225,11574953,11396736,11199188,10419538,10393081,9076588,7768973,6967872,3019668,20395593,20501596,19063687,19641839,19732762,19751416,19751417,19767102,19856264,19877133,20200947,20305683,20587710,20139978,20592451 2316184 632 NM_199173,AL135927,CH471121,CS025626,CS185557,DQ007079,X04143,BC113432,BC113434,BU622466,CA428336,X51699,X53698,HD117875,HH735900 NP_954642,CAI15541,EAW52986,CAI61690,CAJ42738,AAY16981,CAA27763,AAI13433,AAI13435,CAA35996,CAA37736,P02818,CBX74359,CBW53724,ADR82791 Hs.654541 BGP|OC|PMF1 bone Gla protein|bone gamma-carboxyglutamate (gla) protein (osteocalcin)|gamma-carboxyglutamic acid-containing protein|osteocalcin protein-coding 737524 BGN biglycan The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein is thought to function in connective tissue metabolism by binding to collagen fibrils and transfering growth factor-beta. It may promote neuronal survival. This gene is a candidate gene for the Happle syndrome. [provided by RefSeq] 1580863 18621549,18694824,18701807,19379665,19422643,19502413,19523462,19580379,20382708,1860845,11256614,19453261,18988796,18620607,18602826,18029348,17516017,17269742,17120779,17097211,16989735,16938379,16883602,16807372,16434404,16381901,16344560,16051607,15775969,15546867,15489336,15489334,15372625,15173106,15031262,14702039,12538652,12477932,12387878,12354766,12153565,12140283,12070165,11979972,11723132,11709279,11598131,11259413,11145944,11076863,10854409,10684260,10383378,9880804,9848887,9731537,9373149,8440685,8178833,8125298,8093671,8093006,7881444,7852349,7793988,7607653,3597437,2647739,2590169,2059554,1968422,1612609,20591478 633 AI538325,AI570205,DC299956,DC419932,DC425011,NG_015961,NM_001711,CH471172,M65151,M65153,AK092954,AK093023,AK094059,AK222484,AK223302,AK291955,AK293268,AK293289,AK297966,AK298756,AU142113,BC002416,BC004244,BT007323,CR595264,CR618469,CR624916,J04599,U11686 AAH02416,NP_001702,EAW72861,EAW72862,EAW72863,EAW72864,EAW72865,AAA52287,BAC04007,BAG52637,BAG52806,BAD96204,BAD97022,BAF84644,BAG56798,BAG56813,BAG60276,BAG60898,AAH04244,AAP35987,AAA36009,AAC50117,P21810,Q53FI4,Q53HU6,Q8NAB7,CAL37481,CAL38559,ABM82824,ABM86010 Hs.821 DSPG1|PG-S1|PGI|SLRR1A OTTHUMP00000025930|biglycan|biglycan proteoglycan|bone/cartilage proteoglycan I|bone/cartilage proteoglycan-I|dermatan sulphate proteoglycan I|small leucine-rich protein 1A protein-coding 737550 BHLHA15 basic helix-loop-helix family, member a15 20038531,20382342,18557763,16645041,15489334,14516699,12853948,12690205,12617822,12477932,9482738,9073453,20709804 168620 NM_177455,AC091654,CH236956,BC113394,BC113396,BK000276 NP_803238,EAL23893,AAI13395,AAI13397,DAA01056,Q7RTS1 Hs.674510 BHLHB8|MIST1 MIST-1|basic helix-loop-helix domain containing, class B, 8|class A basic helix-loop-helix protein 15|class B basic helix-loop-helix protein 8|class II bHLH protein MIST1|muscle, intestine and stomach expression 1 protein-coding 2302834 BHLHA9 basic helix-loop-helix family, member a9 18557763,14516699,12617822 727857 NM_001164405,AC032044,AC144836,BK000140 NP_001157877,DAA00302,Q7RTU4 Hs.723790 BHLHF42 class A basic helix-loop-helix protein 9|class F basic helix-loop-helix factor 42|class II basic helix-loop-helix protein protein-coding 1347976 BHLHB9 basic helix-loop-helix domain containing, class B, 9 1303981,1580863 16344560,15034937,12477932,11214970,9110174,8619474 1303981 80823 NM_001142524,NM_001142527,NM_001142525,NM_030639,NM_001142526,NM_001142528,NM_001142529,NM_001142530,AL035427,CH471190,AB051488,AF035288,AF547055,BC041409,DA104939,DA211842,DA218716,DA326404,DA397309,DA398982,DA494496,DA718424,NG_021340 NP_001136001,NP_001135996,NP_001135999,NP_001135997,NP_085142,NP_001135998,NP_001136000,NP_001136002,CAI43061,EAW54726,BAB21792,AAQ12077,AAH41409,Q6PI77 Hs.4276 KIAA1701|p60TRP OTTHUMP00000023715|p60-like protein|protein BHLHB9|protein BHLHb9|transcription regulator of 60 kDa protein-coding 1313486 BHLHE22 basic helix-loop-helix family, member e22 1580863 18557763,14702039,14516699,12617822,12477932,12213201,9225980 27319 AI867692,AW206610,NM_152414,AC090136,AF504925,CH471068,AA927689,AI968349,AK091333,AK293979,BC033056,BC045748,BK000273 NP_689627,AAM28881,EAW86876,BAG57349,DAA01053,Q8NFJ8,AAI56672 Hs.388788,Hs.591870 BHLHB5|Beta3|CAGL85|TNRC20 basic helix-loop-helix domain containing, class B, 5|class B basic helix-loop-helix protein 5|class E basic helix-loop-helix protein 22|trinucleotide repeat containing 20|trinucleotide repeat-containing gene 20 protein protein-coding 1346145 BHLHE23 basic helix-loop-helix family, member e23 Basic helix-loop-helix (bHLH) proteins, such as BHLHB4, are transcriptional regulators.[supplied by OMIM] 14516699,18557763,12617822,12477932,12136098,11863370,11780052 128408 NM_080606,AJ328944,AL121673,CH471077,BC137288,BC137308,BK000274 NP_542173,CAD37449,EAW75311,EAW75312,AAI37289,AAI37309,DAA01054,Q8NDY6 Hs.551230 BETA4|BHLHB4|bA305P22.3 basic helix-loop-helix domain containing, class B, 4|class B basic helix-loop-helix protein 4|class E basic helix-loop-helix protein 23 protein-coding 68659 BHLHE40 basic helix-loop-helix family, member e40 This gene encodes a basic helix-loop-helix protein expressed in various tissues. Expression in the chondrocytes is responsive to the addition of Bt2cAMP. The encoded protein is believed to be involved in the control of cell differentiation. [provided by RefSeq] 1580863,625726 20936779,15193144,16136500,16462771,18025081,18345027,18411297,19590847,19693801,20072116,20174623,18029348,20863812,11278694,9240428,18557763,18228528,17376295,16878149,16487626,16344560,16169070,15994878,15719173,15560782,15489334,15223310,12754744,12624110,12477932,12397359,12384505,12354771,12297495,12119049,11688991,11668339,11226878,10449910,19913121,20628086 625726 8553 HI574236,NM_003670,AB043885,AC090955,AF353635,CH471055,EF015895,AA632164,AB004066,AK293205,AK309173,AK312509,BC068292,BC082238,BI962730,CR456921,CR610415,CR613882,CR621260,DB144350 CBX47607,NP_003661,BAB18565,AAK49525,EAW63916,EAW63917,ABM64206,BAA21720,BAG56745,BAG35410,AAH82238,CAG33202,O14503,Q6IB83,ABZ92197 Hs.171825 BHLHB2|DEC1|FLJ99214|HLHB2|SHARP-2|STRA13|Stra14 basic helix-loop-helix domain containing, class B, 2|basic helix-loop-helix domain containing, class b2|class B basic helix-loop-helix protein 2|class E basic helix-loop-helix protein 40|differentially expressed in chondrocytes 1|differentially expressed in chondrocytes protein 1|differentiated embryo chondrocyte expressed gene 1|enhancer-of-split and hairy-related protein 2|stimulated by retinoic acid gene 13 protein protein-coding 731061 BHLHE41 basic helix-loop-helix family, member e41 1580863,625726 12624110,11162494,19679812,18557763,18411297,18345027,18228528,18223678,17194498,16287852,12657651,12477932,12397359,12354771,11278948,11058868,19913121,20628086,15193144,19839995,20072116,20174623 625726 79365 NM_030762,AC022509,CH471094,EF015896,AB044088,AJ270695,AK303677,AW500664,AY665466,AY665467,BC025968,CR615693,NG_021173 NP_110389,EAW96527,EAW96528,ABM64207,BAB21502,BAH14012,AAV54601,AAV54602,AAH25968,Q5SCI4,Q8TAT1,Q9C0J9 Hs.177841 BHLHB3|DEC2|SHARP-1|SHARP1|hDEC2 basic helix-loop-helix domain containing, class B, 3|class E basic helix-loop-helix protein 41|differentially expressed in chondrocytes protein 2|enhancer-of-split and hairy-related protein 1 protein-coding 1346951 BHMT betaine-homocysteine methyltransferase This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq] 1580863 10075673,8798461,19336437,19161160,19048631,18988749,18830263,18708404,18676680,18635682,18498552,18457970,19170196,19493349,19625176,19635752,19683694,19692168,19737740,19777601,19936946,19948975,20031554,20346360,20453000,20458436,20662904,20737570,18427977,18230680,18262489,17993766,17705221,17436311,17376725,17119116,17035141,16953798,16816108,16344560,16189514,15489334,15122900,12818402,12749058,12477932,12475213,12220488,12071701,11883905,11516176,11223523,10529246,9681996,9281325,8889548,1657504,19913121,20628086,20634891,20664391 635 AF118374,AF118375,AF118376,AF118377,AF118378,AY325901,CH471084,AK298308,AK303780,AK315224,BC012616,BM678994,CR620701,DA370221,U50929,NM_001713,AC008502,AF118371,AF118372,AF118373 AAQ90058,EAW95831,EAW95832,BAG60562,BAG64739,BAG37653,AAH12616,AAC50668,Q6EI07,Q93088,NP_001704,AAD22043 Hs.80756 BHMT1 betaine homocysteine methyltransferase|betaine--homocysteine S-methyltransferase 1|betaine-homocysteine methyltransferase protein-coding 1352435 BHMT2 betaine-homocysteine methyltransferase 2 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. [provided by RefSeq] 1580863 19913121,20628086,20634891,20662904,19493349,19161160,19048631,18635682,18427977,18230605,15489334,14702039,12818402,12477932,11087663,18457970,19737740,19948975,20458436,16712791 23743 NM_017614,AC008502,CH471084,AF257473,AK000008,AK298298,AK315520,BC020665,CB140104,NM_001178005 NP_060084,EAW95827,EAW95828,EAW95829,EAW95830,AAG41356,BAA90880,BAH12752,BAG37901,AAH20665,Q9H2M3,ABM82296,ABM85476,NP_001171476 Hs.114172 FLJ20001 betaine--homocysteine S-methyltransferase 2|betaine-homocysteine methyltransferase 2 protein-coding 1316665 BICC1 bicaudal C homolog 1 (Drosophila) This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq] 15465627,14702039,11231089,9373149,8889548,8125298,16385451,20379614,20516156 80114 NM_001080512,AC012168,AC012472,AC023170,CH471083,AK026129,AK225427,AK225429,AK307780,AY726586,BM972104,BX538102,CF242850 NP_001073981,EAW54176,BAB15369,Q9H694,AAI56901 Hs.158745 DKFZp686I21119 bic-C|protein bicaudal C homolog 1 protein-coding 1319790 BICD1 bicaudal D homolog 1 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq] 9367685,19010793,18487243,17707369,17139249,17101644,16473624,16344560,16320833,15489334,14702039,12892780,12522145,12477932,12447383,12401177,8530100,19596235,19851299,20080650,20164183,20379614,19825938,20686608,20709820 636 NM_001714,NM_001003398,AC016954,AC026356,AC048344,AC087245,AC087316,CH471116,AA207154,AA249429,AK095648,AK290188,AK313430,AU132680,BC010091,BC136372,U90028,U90030 NP_001705,NP_001003398,EAW88532,EAW88533,EAW88534,BAF82877,AAI36373,AAB94805,AAB94806,Q96G01 Hs.505202 BICD bic-D 1|cytoskeleton-like bicaudal D protein homolog 1|protein bicaudal D homolog 1 protein-coding 1352041 BICD2 bicaudal D homolog 2 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq] 16417406,18029348,16473624,17081983,16964243,15592455,15489334,15302935,15164053,15144186,14609947,12477932,12447383,12401177,11864968,11483508,9734811,17139249,19596235,19615732 23299 NM_001003800,NM_015250,AL136981,AL137074,CH471089,AB014599,AY052562,BC004296,BC010428,BC073970 NP_001003800,NP_056065,CAI41013,CAI41014,CAI14369,CAI14370,EAW62829,BAA31674,AAL12246,AAH04296,AAH10428,AAH73970,Q8TD16,Q96FU2 Hs.436939 KIAA0699|bA526D8.1 bic-D 2|coiled-coil protein BICD2|cytoskeleton-like bicaudal D protein homolog 2|homolog of Drosophila bicaudal D|protein bicaudal D homolog 2 protein-coding 1346183 BID BH3 interacting domain death agonist This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq] 2313998,2314029,2314002,1580863,2317560,2317561,2317562,4143170,4143196,4143171 20140092,16697956,18029348,19046991,19381674,19640637,19641510,19670908,19711428,19820711,19890662,19929986,20379614,20453000,20802294,20855536,20877624,19029793,20187936,11085743,8918887,15231831,9727491,11099414,11114298,12804595,9727492,10950869,12624108,19454696,19423537,19246452,19233849,19219602,19074885,19052714,18925930,18838202,18665919,18648372,18593990,18469004,18373075,18317451,18297401,18195012,18173728,18166654,18165867,17052454,10629050,18089817,17855051,17765974,17762183,17666167,17635912,17549073,17534194,17431792,17308307,17289999,17226776,17200714,16987815,16167175,16964285,16908521,16485030,16475813,16380381,16172118,16077201,15809076,15772077,15694340,15637055,15615731,15592455,15574335,15501827,15489334,15461802,15323553,15173176,15123718,15117953,15024076,14769944,14716828,14702039,14583606,14581476,12934063,12871587,12808108,12766488,12754217,12598529,12477932,12419244,12196516,12193163,12097160,12061801,12000759,11971973,11940658,11929871,11832478,11805084,11790791,11741882,11585909,11583631,11583622,11544326,10364179,10089877,9790773,9721221,9463381,7929347,7774948,12404116,15659383,11399776,15520201,15353804,15721256,15692567,19918914,20356928,16341674,19913121,20628086 2313998,2314029,2314002,2317560,2317561,2317562,4143170,4143196,4143171 637 AK094795,AK313729,AY005151,BC009197,BC022072,BC033634,BC036364,BM842561,BQ068464,CR407603,CR456389,CR600376,CR611157,CR612150,D89803,NM_001196,NM_197966,AC006285,AC016026,AY309922,CH471193,CQ786436,AF042083,AF087891,AF250233,AF370380,NM_197967,EU447348,EU678292,EU678293,EU678294 BAG36471,AAF89091,AAH09197,AAH22072,AAH33634,AAH36364,CAG28531,CAG30275,BAG52933,BAF79673,NP_932071,NP_001187,NP_932070,AAP50259,EAW57770,EAW57771,EAW57772,EAW57773,EAW57774,CAG17894,AAC34365,AAP97190,AAO32633,AAQ15216,ACA61804,ACD47106,ACD47107,ACD47108,P55957,Q71RF7,CAK54378,CAK54677,ABZ92041 Hs.591054 FP497|MGC15319|MGC42355 BH3-interacting domain death agonist|BID isoform ES(1b)|BID isoform L(2)|BID isoform Si6|Human BID coding sequence|OTTHUMP00000196197|apoptic death agonist|desmocollin type 4|p22 BID protein-coding 1347683 BIK BCL2-interacting killer (apoptosis-inducing) The protein encoded by this gene is known to interact with cellular and viral survival-promoting proteins, such as BCL2 and the Epstein-Barr virus in order to enhance programed cell death. Because its activity is suppressed in the presence of survival-promoting proteins, this protein is suggested as a likely target for antiapoptotic proteins. This protein shares a critical BH3 domain with other death-promoting proteins, BAX and BAK. [provided by RefSeq] 2314029,1580863 17714764,17574210,17047080,17027756,16060964,15824729,15809295,15791210,15767553,15731089,15489334,15461802,14983013,12874789,12853473,12477932,11884414,11782349,11375329,11342619,10974546,10591208,10500065,10381646,9525867,9463381,8816500,15694340,16697956,7478623,10381623,18636124,18519826,18299962,8521816,16189514,15721256,9130713,19632297,19641504,19767753,19898928,20379614,20855536,16341674,19913121,20564319,20628086 2314029 638 AF174424,AL022237,AY245248,CH471138,BC001599,BM765910,BT006728,CR456390,CR541863,CR541883,U34584,NM_001197,U49730 NP_001188,AAF01156,CAA18260,AAO61089,EAW73282,EAW73283,EAW73284,AAH01599,AAP35374,CAG30276,CAG46661,CAG46681,AAC50413,AAC79124,Q13323,CAK54379,CAK54678,ABM92195,ABM84664,ABM84671 Hs.475055 BIP1|BP4|NBK apoptosis inducer NBK|apoptosis-inducing NBK|bcl-2-interacting killer protein-coding 732350 BIN1 bridging integrator 1 This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynanim, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq] 1580043,1580047,704404,704405,1580863 10903846,16275660,17474147,8782822,9182667,19004523,18658220,18348166,18154705,17699764,17676042,17671430,17611416,17218774,17210688,17081983,17059209,16530520,16516635,16381901,16115810,15992821,15489336,15483625,15302935,15207703,14704274,14702039,12972505,12773571,12668730,12558988,12532338,12477932,12456676,12183633,11709703,11422041,11384986,11306501,11230166,11076863,11032017,10899172,10764771,10738240,10652430,10449755,10430869,10391921,10094488,10036185,9603201,9418903,9315708,9280305,9223448,9195986,9182529,9110174,8725406,8619474,16169070,12604805,20558387,9395479,9356459,9348539,9341169,18817572,20140253,11256614,18029348,19418541,19629135,19851296,19915558,20142620,20169111,20198315,20460622,20211142,21059989 1580043,1580047 274 U83999,U84004,AF001383,AF004015,AF043898,AF043899,AF043900,AF043901,AF068914,AF068915,AF068916,AF068917,AF068918,AF070576,AK127325,AK295300,AK301153,AL713697,BC004101,BT006865,CR613145,CR614291,U68485,U87558,NM_139351,NM_139350,NM_139349,NM_139347,NM_004305,NM_139346,NM_139345,NM_139344,NM_139343,NG_012042,AC012508,CH471103,NM_139348 EAW95288,EAW95289,EAW95290,EAW95291,EAW95292,EAW95293,EAW95294,EAW95295,EAW95296,EAW95297,EAW95298,EAW95299,EAW95300,EAW95301,EAW95302,EAW95303,EAW95304,EAW95305,EAW95306,EAW95307,AAC23440,AAC23441,AAB61363,AAC51345,AAC39710,AAC39711,AAC39712,AAC39713,AAC24126,AAC24127,AAC24128,AAC23750,AAC23751,AAC28646,BAH12028,BAH13418,CAD28496,AAH04101,AAP35511,EAW95287,AAC17461,AAB63263,O00499,Q8WWH9,Q9BTH3,CAL37828,ACE86592,NP_647598,NP_647601,NP_647600,NP_647599,NP_647597,NP_004296,NP_647596,NP_647595,NP_647594,NP_647593,AAY24328,EAW95286 Hs.193163 AMPH2|AMPHL|DKFZp547F068|MGC10367|SH3P9 OTTHUMP00000203785|amphiphysin II|amphiphysin-like protein|box dependant MYC interacting protein 1|box-dependent myc-interacting protein 1|myc box dependent interacting protein 1|myc box-dependent-interacting protein 1 protein-coding 1315604 BIN2 bridging integrator 2 20379614,16541075,15489334,14702039,12477932,10903846,9373149,8125298 51411 AK300211,NM_016293,AB032710,AC046135,CH471111,AB032698,AF146531,AK000783,AK093638,AK225911,AK314304,BC047686,BG388638 BAH13239,NP_057377,BAA88125,EAW58186,EAW58187,EAW58188,BAA88108,AAD54227,BAA91376,BAG36957,AAH47686,Q9UBW5 Hs.14770 BRAP-1 breast cancer associated protein BRAP1|breast cancer-associated protein 1|bridging integrator 2|bridging integrator-2 protein-coding 1317921 BIN3 bridging integrator 3 The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq] 1580863 11274158,16524918,16344560,15489334,14993925,14702039,12477932,9373149,8125298,17353931,17207965,18654987 55909 NM_018688,AC037459,AC105046,CH471080,AF271732,AK001289,AK023980,AK090446,AK124486,AK222470,BC001223,BC009824,BC050314,CR591250,CR596305,CR600556,CR607748,CR611814,CR612252,CR619432,CR619792,CR620938,CR623018,CR625006,CR626268,DA480525 NP_061158,EAW63650,EAW63651,EAW63652,EAW63653,EAW63654,EAW63655,EAW63656,AAF76218,BAA91603,BAB14751,BAC03427,BAD96190,AAH01223,AAH09824,Q53HW0,Q8NF35,Q9NQY0,ADQ31692 Hs.725122 MGC14978 bridging integrator 3 protein-coding 1347209 BIRC2 baculoviral IAP repeat-containing 2 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. [provided by RefSeq] 1643526,1643527,1643528,1643529,1580863 20447407,16263936,16775419,19690564,19854138,20562859,20932475,20667824,11084335,16282325,18022362,8548810,12761501,11106668,19416853,19336370,19223549,19154529,19029953,18931663,18846111,18827186,18676680,18621737,18621506,18570872,18566024,18434593,18239673,18230607,17993464,17822677,17626072,17220297,16983704,16929535,16775178,16701639,16510124,16339151,16189514,16180223,16080516,15911110,15861135,15665297,15501771,15489334,15359644,15318034,15187025,15183896,14960583,14960576,14708638,12888921,12887920,12867425,12865429,12851723,12651874,12603340,12571250,12525502,12477932,12388702,12243753,12218061,12209092,12208731,11907583,11906213,11604410,11583623,11562359,10929712,10404221,9892732,9642260,9545235,9384571,9373149,8943045,8938457,8643514,8552191,8125298,17158886,18939944,19011619,10753917,9705938,15353805,15580265,17613533,19153467,19170196,19397698,19567200,19692168,19720604,19893574,20097753,20078866,20951133,19913121,20458734,20628086,15218035,21113135,21048031 1643526,1643527,1643528,1643529 329 AP000942,CH471065,DQ068066,AK225856,AK303197,AK313446,BC016174,BC028578,BX647978,L49431,U37547,U45879,NM_001166 NP_001157,EAW67018,AAY46158,BAG64288,BAG36235,AAH16174,AAH28578,AAC41942,AAC50508,AAC50372,Q13490,Q8IZZ0,ABM83310,ABM86522 Hs.696238 API1|HIAP2|Hiap-2|MIHB|RNF48|c-IAP1|cIAP1 IAP homolog B|IAP-2|NFR2-TRAF signalling complex protein|RING finger protein 48|TNFR2-TRAF-signaling complex protein 2|apoptosis inhibitor 1|baculoviral IAP repeat-containing 2|baculoviral IAP repeat-containing protein 2|inhibitor of apoptosis protein 2 protein-coding 732624 BIRC3 baculoviral IAP repeat-containing 3 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. The amino acid sequence predicts three baculovirus IAP repeat domains and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq] 1643526,1580863 16123224,16395405,8552191,8548810,19416853,19336370,19302291,19243308,19234489,19223549,19060847,19029953,18953427,18931663,18768389,18676680,18621737,18570872,18566024,18508827,18216531,18195037,20447407,19690564,20562859,20863547,20547836,17993464,17972100,17927572,17626072,17179183,17133355,17069460,16984419,16983704,16891304,16813569,16799641,16775419,16761316,16467195,16395399,16356540,16339151,16154993,16142363,15982633,15856013,15845643,15696476,15598810,15489334,15363040,15183896,15078890,15037009,15023888,14960576,14708638,14562112,14527959,12926068,12865429,12815069,12651874,12651604,12539042,12525502,12477932,12393423,12243753,12161039,12082024,11960389,11907583,11583623,11562359,11066071,10929712,10610122,10233894,9892732,9545235,9384571,8938457,8643514,18784070,18939944,19011619,10753917,9705938,15353805,10862606,15494311,15175157,20691152,20576118,11084335,11604410,11906213,12571250,12867425,15861135,16189514,16282325,16510124,17613533,19170196,19358671,19625176,19692168,19923725,20097753,20237496,20385093,20453000,8943045,9642260,19763917,20078866,19913121,20628086,15218035,20063052,21116278,20855536,21048031 1643526 330 NM_001165,NM_182962,AF178945,AP000942,AY764389,CH471065,AF070674,BC027485,BC037420,BQ718651,L49432,U37546,U45878,HI574220,HI574222 NP_001156,NP_892007,AAG09369,AAU88144,EAW67017,AAC83232,AAH37420,AAC41943,AAC50507,AAC50371,Q13489,CBX47599,CBX47600 Hs.127799 AIP1|API2|CIAP2|HAIP1|HIAP1|MALT2|MIHC|RNF49|c-IAP2 IAP homolog C|IAP-1|RING finger protein 49|TNFR2-TRAF signaling complex protein|TNFR2-TRAF-signaling complex protein 1|apoptosis inhibitor 2|baculoviral IAP repeat-containing 3|baculoviral IAP repeat-containing protein 3|inhibitor of apoptosis protein 1|mammalian IAP homolog C protein-coding 737482 BIRC5 baculoviral IAP repeat-containing 5 This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors yet low in adult tissues. Antisense transcripts are involved in the regulation of this gene's expression. At least four transcript variants encoding distinct isoforms have been found for this gene, but the full-length natures of only three of them have been determined. [provided by RefSeq] 2293092,2293101,2293104,2293122,2293138,2293090,2293102,2293108,2293137,2293106,2293125,2293136,2293094,2293096,2293097,2293105,2293126,2293098,2293131,2293135,2293100,2293103,2293109,2293129,2293139,2293091,2298935,2298940,2298936,2298937,2298939,2293093,2293095,2293099,1580863 19120021,19112393,19074885,19038421,19034775,19032823,19025652,19018973,19018856,18998509,18981709,18950577,18949405,18946675,18927499,18856066,18842333,18839071,18829549,18825388,18824294,18818705,18815458,18758234,18716870,18712773,18708766,18704463,18701842,18687517,18676762,18086682,16239925,18029348,19440933,19439469,19428321,19363521,19361279,19352701,19347901,19336448,19293795,19287963,19287462,19280061,19258429,19252483,19247455,19244543,19244345,19242064,19211844,19144991,19141860,19131553,19130609,17285125,17255535,17239009,17204284,17203351,17170079,17167759,17143520,17128412,17127378,17124585,17108713,17099693,17098350,17095626,17087938,17084966,17077982,17045968,17038538,17015676,17012855,17008426,16950794,16873289,16863850,16850112,16847054,16826583,16825985,16807248,16773218,16764853,16762323,16761316,16714396,16671090,16644787,16608879,16595680,16571674,16565220,16552335,16534839,16529600,16525657,16525632,16516635,16470228,16462771,16436504,16427043,16407408,16404364,16381901,16372125,16364925,16329164,16291752,16254145,15809755,15802787,15743529,15735703,15729715,15709157,15688031,15685548,15670305,15655550,15638381,15637054,15628841,15623349,15611790,15569667,15547736,15541814,15541727,15531913,15512811,15489959,15489336,15489334,15477601,15457550,15456784,15383173,15334693,15334064,15326475,15309737,16211302,16211215,16202147,16173017,16171786,16142363,16142334,16123317,16108013,16055565,16048634,16026775,15993841,15991282,15986442,15943789,15938719,15936846,15928668,15923164,15916722,15896468,15894266,15882878,15870931,15831281,15829330,15829320,15817155,15294091,15280424,15260989,15249581,15218035,15195112,15149158,15148334,15139971,15138717,15126108,15077160,15004200,14988404,14741722,14734714,14699067,14676801,14614132,14610074,14597622,14597555,14583779,14581472,14527689,14523021,12963850,12926071,12925766,12885482,12883703,12854136,12833149,12805209,12794243,12773388,12709681,12678716,12660240,12654446,12643601,12609713,12569609,12556969,12517802,12510154,12495661,12477932,12419797,12393476,12388702,12374680,12363043,12235242,12174930,12168867,12143224,12133447,12119561,12115583,12085263,12073047,11976319,11925104,11888845,11877677,11875736,11861764,11844831,11821157,11773702,11728454,11712083,11516652,11256614,11170436,11134084,11084331,11076863,11069302,11024045,10949039,10891443,10876248,10713676,10626797,9859993,9850056,20682707,20800603,20819778,20881643,20957442,20959405,20978324,21048031,20033843,20041268,20126979,20506498,20728447,20406824,16712791,20372866,20403046,20430742,20638385,18226337,20427271,19921309,18364081,18510850,20236666,18670822,18652770,18642030,18632631,18630507,18611860,18599610,18593928,18593915,18591255,18566409,18563330,18553460,18539906,18519556,18498065,18451232,18451140,18438971,18431086,18425331,18425079,18414895,18401527,18393241,18391576,18336887,18336724,18334114,18332262,18327814,18316606,18301249,18298903,18278445,18266976,18251581,18251156,18251132,18242580,18227733,18206228,18192073,18181175,18171606,18171482,18154598,18089792,18079751,18069771,18058462,18057009,18055328,18048012,18035418,18032822,18027854,17993464,17982126,17967504,17965335,17962949,17961802,17956729,17943598,17905101,17881355,17879398,17877643,17869043,17805549,17785436,17718383,17714426,17706282,17704744,17693049,17687492,17680529,17656368,17641414,17638911,17635796,17624454,17616652,17613533,17609820,17584963,17582222,17569112,17559540,17548900,17543072,17536304,17534699,17533050,17509581,17505517,17464868,17457057,17451195,17393113,17376603,17361097,17341657,17337592,17328950,17304504,17289902,9556606,9373149,9256286,8125298,8106347,7947793,17353931,15271987,20627126,20094073,20368071,15924721,16322459,16732934,17018890,17274640,17441339,17633470,17666323,17672950,17681274,17927889,17959540,18250050,18329369,18426652,18574502,18815881,19033926,19102934,19171073,19173802,19207554,19218139,19272804,19272817,19285711,19320741,19366855,19397802,19405109,19421758,19423183,19451595,19469654,19472128,19483728,19497660,19500507,19506533,19585499,19605357,19621386,19628339,19632843,19636556,19639203,19664395,19676105,19679061,19705503,19716375,19724852,19729377,19756737,19767411,19781773,19787275,19832036,19885569,19887369,19903782,19913527,19933689,19939880,19949374,19951584,19956893,20010504,20011512,20019839,20028510,20056675,20057973,20072652,20101202,20104682,20178473,20235790,20306657,20357690,20361940,20367605,20453000,20470195,19732355,20798131,19763917,20181247,20882051,20515940,19615253,20027603,20050981,20627293,20735270,20398291,19176119,19951914,20596624,17828494,17828496,17828507,19219613,20100132,20939430,20807887,20868995 2293092,2293101,2293104,2293122,2293138,2293090,2293102,2293108,2293137,2293106,2293125,2293136,2293094,2293096,2293097,2293105,2293126,2293098,2293131,2293100,2293103,2293109,2293129,2293139,2293091,2298935,2298940,2298936,2298937,2298939,2293093,2293095,2293099 332 DQ508248,DQ508249,NM_001168,NM_001012270,AC087645,AY795969,CH471099,U75285,AB028869,AB154416,AF077350,AI800528,AK223428,AK301793,AK311917,AL519719,AL547142,AY830084,AY927772,BC000784,BC008718,BC034148,BC065497,BE537971,BG178974,BG759111,BI254058,BI520186,BM476145,BQ687404,CB112371,CR541740,CR592187,CR593999,CR602197,CR603892,CR605755,CR607868,CR612752,CR619419,CR621516,CR624931,DQ227257,DQ310375,DQ310376,DQ310377,DQ310378,DQ310379,DQ508245,DQ508246,DQ508247,NM_001012271,HM625836 ABF60112,ABF60113,ABF60114,O15392,Q969L1,CAL38006,NP_001012271,NP_001159,NP_001012270,AAV40840,EAW89511,EAW89512,EAW89513,EAW89514,AAC51660,BAA93676,BAD11155,AAD34226,BAD97148,BAH13555,BAG34858,AAW22624,AAY15202,AAH08718,AAH34148,AAH65497,CAG46540,ABB76601,ABC42341,ABC42342,ABC42343,ABC42344,ABC42345,ABF60110,ABF60111,ADM26643 Hs.514527 API4|EPR-1 apoptosis inhibitor 4|apoptosis inhibitor survivin|baculoviral IAP repeat-containing 5|baculoviral IAP repeat-containing protein 5|survivin variant 3 alpha protein-coding 1316326 BIRC6 baculoviral IAP repeat-containing 6 This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq] 1580863,1580055 20800603,20819778,18329369,10544019,19223905,15507451,15300255,14765125,14702039,12477932,12168954,10574462,8889548,7566098,15314180,15200957 1580055 57448 AC079837,AL133243,AL133245,AL133246,CH471053,AA315620,AB033115,AF265555,AK023788,AK023848,BM674459,BX345326,NM_016252,BX371410,BX411219,CA418956 NP_057336,EAX00443,EAX00444,EAX00445,EAX00446,EAX00447,BAA86603,AAF75772,BAB14679,BAB14700,Q9H8B7,Q9H8D8,Q9NR09 Hs.150107 APOLLON|BRUCE|FLJ13726|FLJ13786|KIAA1289 baculoviral IAP repeat-containing 6|baculoviral IAP repeat-containing protein 6|ubiquitin-conjugating BIR domain enzyme apollon|ubiquitin-conjugating BIR-domain enzyme apollon protein-coding 1345581 BIRC7 baculoviral IAP repeat-containing 7 The protein encoded by this gene is a member of the family of inhibitor of apoptosis proteins (IAP) and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Two transcript variants encoding different isoforms have been found for this gene. The two isoforms have different antiapoptotic properties, with isoform alpha protecting cells from apoptosis induced by staurosporine and isoform b protecting cells from apoptosis induced by etoposide. [provided by RefSeq] 1580863 15541814,15489334,15009721,14614456,12975309,12488298,12477932,11780052,11322947,11084335,20691667,11801603,11024045,11865055,11162435,19074843,18837095,18555709,18515985,18451137,18278467,18034418,18031611,17968430,17632732,17519534,17437058,17294084,17035597,16990595,16965834,16840203,16806840,16729033,16437214,16026775,19914791,20460713,19549727,17613533,17672950,18210873,18315896,18827979,19397802,19549891,19724862,20109966,20237496,20388502,19690982,20607788 79444 NM_139317,NM_022161,AJ309298,AL121827,CH471077,AF301009,AF311388,AY358835,AY358836,AY517497,BC014475 NP_647478,NP_071444,CAC37337,CAC37338,CAC36111,CAC36112,EAW75302,EAW75303,EAW75304,AAG37878,AAG33622,AAQ89194,AAQ89195,AAS01729,AAH14475,Q6R308,Q96CA5,ABM84003,ABM87337,CAX12643 Hs.256126 KIAP|LIVIN|ML-IAP|MLIAP|RNF50 OTTHUMP00000031538|RING finger protein 50|baculoviral IAP repeat-containing 7|baculoviral IAP repeat-containing protein 7|kidney inhibitor of apoptosis protein|livin inhibitor of apoptosis|livin inhibitor-of-apoptosis|melanoma inhibitor of apoptosis protein protein-coding 1349757 BIRC8 baculoviral IAP repeat-containing 8 15485395,12477932,12372615,11597143,11390657,16344560,19549727,19690564,20800603 112401 NM_033341,AC092070,AF164682,AF420440,BC039318,BC046168,BC056914,BC071665,HC006788,HC044547,DB052483 NP_203127,AAK81892,AAL30369,AAH39318,AAH71665,Q6PIA0,Q96P09,CBH19200,CBH30603 Hs.348263 ILP-2|ILP2|hILP2 IAP-like protein 2|baculoviral IAP repeat-containing 8|baculoviral IAP repeat-containing protein 8|inhibitor of apoptosis-like protein 2|testis-specific inhibitor of apoptosis protein-coding 1323580 BIVM basic, immunoglobulin-like variable motif containing 14702039,12477932,12036287,11991713,9373149,8125298,19416867,19773279 54841 NM_017693,NM_001159596,AL157769,CH471085,AF147319,AF339783,AF339793,AF411385,AK000166,AK126285,AK126520,AK225229,AK290658,AK304391,BC020663,BC039587,BC051813,BC075084,BC075085,BC112339,CR595458,GD145579 NP_060163,NP_001153068,CAI14526,EAX09070,AAM45761,BAA90986,BAF83347,BAG65226,AAH51813,AAH75084,AAH75085,AAI12340,Q86UB2 Hs.288809 FLJ44301|FLJ44556|MGC133326 basic immunoglobulin-like variable motif-containing protein protein-coding 1344292 BLACE B-cell acute lymphoblastic leukemia expressed 14667812 338436 AY166699 Hs.521326 FLACE protein-coding 1347383 BLCAP bladder cancer associated protein The protein encoded by this gene was identified using a differential display procedure with tumor biopsies obtained from a noninvasive and an invasive bladder transitional cell carcinoma. Although database searches revealed no homology to any human gene at the time of identification, mouse, rat and zebrafish orthologs have since been identified. The function of this differentially expressed protein is not yet known but it appears to be down-regulated during bladder cancer progression. [provided by RefSeq] 634549 15342556,16344560,19783793,19908260,18836209,17031575,16675915,16303743,15489334,14702039,12477932,11780052,10197429,16712791 634549 10904 AA780553,BP293276,DA198124,DA262965,DA632207,DA943717,NM_001167820,NM_001167821,NM_001167822,NM_001167823,NM_006698,AL109614,CH471077,AF053470,AI920860,AK074498,AK124822,AL049288,BC047692,BC071704,CB155706,CR591064,CR592095,CR595227,CR595359,CR596766,CR597740,CR602230,CR605169,CR605979,CR607161,CR618177,CR626043 NP_001161292,NP_001161293,NP_001161294,NP_001161295,NP_006689,CAC00475,CAM19261,CAM19262,CAM19263,CAM19264,EAW76056,AAC06370,AAH47692,AAH71704,P62952 Hs.472651 BC10 OTTHUMP00000178817|OTTHUMP00000178818|OTTHUMP00000178819|OTTHUMP00000178823|bladder cancer 10 kDa protein|bladder cancer related protein (10kD)|bladder cancer-associated protein protein-coding 1606631 BLID BH3-like motif containing, cell death inducer This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [SH] 20400521,18940476,15069058,12477932,19779542,20838585,20544842 414899 NM_001001786,AP001924,AF303179,BC130361,BC130363 NP_001001786,AAN31127,AAI30362,AAI30364,Q8IZY5,ADR83464 Hs.686109 BRCC2|MGC163233|MGC163235 BH3-like motif-containing cell death inducer|breast cancer cell 2|breast cancer cell protein 2 protein-coding 1318874 BLK B lymphoid tyrosine kinase 1580863,2316189,1642307 2404338,19165918,20130895,20881011,20962850,21068098,19180478,18204098,14970218,12477932,12406557,11896452,10449731,9525867,9177269,8756631,8636124,8395016,8083187,7845672,7822795,7592958,7592787,19225526,19351960,19503088,19644876,19667185,19740902,19796918,19838193,20131239,20131273,20156505,8621719,20453440 2316189,1642307 640 NM_001715,AC022239,AF131216,CH471157,AK313751,AL832875,BC004473,BC007371,BC018703,BC032413,BC038555,BQ057058,CR625422,S76617,Z33998,NG_023543 NP_001706,EAW65617,EAW65618,BAG36491,AAH07371,AAH18703,AAH32413,AAB33265,CAA83965,P51451,Q05D26,Q96IN1 Hs.146591 MGC10442|MODY11 BLK nonreceptor tyrosine kinase|b lymphocyte kinase|p55-Blk|tyrosine-protein kinase Blk protein-coding 1318795 BLM Bloom syndrome, RecQ helicase-like The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq] 1580056,1580057,1580863,1599420 17878217,11433031,12818200,10871376,12181313,11781842,7585968,11309417,10359700,15604258,17115688,10779560,10728666,19465921,19432957,19329795,19237606,19205873,19165145,19109166,18978339,18974064,18971343,18708356,18682526,18676680,18471088,18448429,18401830,18390547,18278455,18270339,18264947,18054789,18029348,18003860,17984114,17961633,17943968,17855454,17728255,17634426,17603497,17599064,17591918,17457718,17407155,16964243,16880735,16876111,16864798,16766518,16620772,16595695,16565220,16537486,16412221,16199871,16030011,15990871,15965237,15959913,15845538,15805243,15775963,15750625,15726604,15635413,15616572,15579905,15539948,15509577,15489334,15302935,15289897,15257300,15229185,15064730,14688284,14685245,14576316,14517203,12975363,12974384,12826610,12702560,12606585,12477932,12444098,12433984,12242432,12080066,12034743,12019152,11960380,11950880,11919194,11916980,11877377,11876000,11790298,11741924,11716541,11691925,11532193,11500040,11472631,11470874,11406610,11278509,10862105,10851073,10825162,10823897,10783165,10734115,9671747,9388480,9388193,9285778,8022833,1518822,11325959,15364958,11399766,15143166,12973351,15806145,19015241,19170196,19442250,19500012,19542097,19573080,19578796,19625176,19632996,19661064,19671661,19692168,19734539,19773279,19917125,19935873,19945966,19956565,20154148,20237496,20347428,20447876,20445207,20215422,20211839,16326861,20639533,19714462,19913121,20628086,20800603,20813000 1580056,1580057,1599420 641 NM_000057,NG_007272,AC021422,AC124248,AY886902,CH471101,AK295194,AK303159,AK314262,BC034480,BC062697,BC093622,BC101567,BC107423,BC115028,BC115029,BC115030,BC115031,BC115032,BC143280,BC143288,CR597614,CR615303,U39817 NP_000048,AAW62255,EAX02107,EAX02108,BAH12008,BAH13907,BAG36927,AAH93622,AAI01568,AAI07424,AAI15031,AAI15033,AAI43281,AAA87850,P54132,Q3B7X0 Hs.725208 BS|MGC126616|MGC131618|MGC131620|RECQ2|RECQL2|RECQL3 Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3 protein-coding 1312244 BLMH bleomycin hydrolase Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq] 1580058,1580059,1580863 8125298,16169070,8620487,9546396,8639621,18398146,18082847,17854420,16189514,15900213,15489334,12604387,12477932,12082022,11436125,11099722,10973933,10686410,10404591,10353821,10335922,9855622,9500538,9485374,9407121,9373149,9331073,11350084,19615732 1580058,1580059 642 AI283058,DC346179,NM_000386,NG_011440,AC087644,AC104984,CH471159,AF091082,AK223403,AK301948,AK312896,BC003616,BG471412,BT007018,X92106 NP_000377,EAW51224,AAC72951,BAD97123,BAG63365,BAG35743,AAH03616,AAP35664,CAA63078,Q13867 Hs.371914 BH|BMH BLM hydrolase|bleomycin hydrolase protein-coding 1347273 BLNK B-cell linker This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1600518 16356554,16344560,16341674,15744341,15588985,15489334,15270728,15087455,14702039,12761551,12514734,12477932,12456653,12093870,11909947,11514608,11489945,11487585,11449366,11356834,11274146,11071869,10981967,10903736,10820378,10556826,10498607,9705962,9373149,16568084,9697839,10583958,9341187,19218240,19018766,18022864,17681949,16636677,8125298,12176364,12773374,16385451,16969585,19372136,19641626,20237496,20379614,21048031 1600518 29760 AM180334,AM180335,AM180336,AM180337,AM180338,AM180339,AM180340,AM180341,AM180342,AM180343,AM180344,AM180345,AM180346,BC018906,BC110298,BF975580,BM820310,BU597768,CR598772,DA045252,NM_001114094,NG_007575,AC021037,AF180756,AL391057,CH471066,AF068180,AF068181,AI307343,NM_013314,AK027779,AK225546,AM180327,AM180328,AM180329,AM180330,AM180331,AM180332,AM180333 CAJ55327,CAJ55328,CAJ55329,CAJ55330,CAJ55331,CAJ55332,CAJ55333,CAJ55334,CAJ55335,CAJ55336,CAJ55337,CAJ55338,CAJ55339,CAJ55340,AAH18906,Q2MD40,Q2MD42,Q2MD44,Q2MD46,Q2MD47,Q2MD48,Q2MD49,Q2MD50,Q2MD51,Q2MD52,Q2MD54,Q2MD55,Q2MD56,Q2MD57,Q2MD58,Q2MD59,Q8WV28,NP_037446,NP_001107566,AAF20382,AAF20383,EAW49980,EAW49981,AAC39936,AAC39937,BAG51377,CAJ55321,CAJ55322,CAJ55323,CAJ55324,CAJ55325,CAJ55326 Hs.665244 AGM4|BASH|BLNK-S|LY57|MGC111051|SLP-65|SLP65 B cell linker protein|B-cell adapter containing a SH2 domain protein|B-cell adapter containing a Src homology 2 domain protein|B-cell linker protein|OTTHUMP00000020168|Src homology 2 domain-containing leukocyte protein of 65 kDa|cytoplasmic adapter protein protein-coding 1316833 BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM] 1580863 11031247,11252894,19246570,15146197,14667819,15102850,17618940,16344560,14702039,12639951,12477932,10747963,10611234,9674425,8770567,8646881,16169070,20877624 2647 AI673441,AI816035,BQ899204,BU601406,CN263524,DA864590,NR_037655,NR_037656,NR_037657,NM_001487,AC009779,CH471054,AK307069,BC066340,BC130640,BC132795,CR621560,D64007,DA243440,S82447 NP_001478,EAW96824,AAI30641,AAI32796,BAA10887,AAB37682,P78537 Hs.94672 BLOS1|FLJ39337|FLJ97089|GCN5L1|MGC87455|MICoA|RT14 BLOC subunit 1|BLOC-1 subunit 1|GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1|GCN5 general control of amino-acid synthesis 5-like 1|GCN5-like protein 1|MTA1-interacting coactivator|biogenesis of lysosome-related organelles complex 1 subunit 1|biogenesis of lysosome-related organelles complex-1, subunit 1 protein-coding 1315231 BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2 BLOC1S2 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM] 2302154 15381421,15102850,18188704,19083121,15489334,15164054,14702039,12923531,12576321,12477932,12191018,11483580,18329849,19615732,20308062 2302154 282991 NM_173809,NM_001001342,AL138921,AL139819,CH471066,AK054697,AK298969,AY278457,AY531265,BC020494,BG679165,BI753469,CR619589,CR625003 NP_776170,NP_001001342,CAH72396,CAH72821,EAW49835,EAW49836,EAW49837,BAG61064,AAQ19606,AAT00461,AAH20494,Q6QNY1 Hs.34906 BLOS2|FLJ30135|MGC10120|RP11-316M21.4 BLOC-1 subunit 2|OTTHUMP00000020281|OTTHUMP00000020282|biogenesis of lysosome-related organelles complex 1 subunit 2|biogenesis of lysosome-related organelles complex-1, subunit 2|centrosomal 10 kDa protein|centrosome protein oncogene|centrosome-associated protein protein-coding 1321173 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq] 15102850,16385460,17081983,12923531,12477932,12191018,12576321,11031247,11252894,19197348,20460622 388552 NM_212550,NG_008372,AC005757,AC005779,AK130151,AK130186,AK296695,AY531266,BC151151,BC151152,BU616355,DC422050,DN996082 NP_997715,BAC85300,BAG59289,AAT00462,AAI51153,Q6QNY0,Q6ZP25,AAI51152 Hs.103902 BLOS3|FLJ26641|FLJ26676|HPS8|RP BLOC-1 subunit 3|biogenesis of lysosome-related organelles complex 1 subunit 3|biogenesis of lysosome-related organelles complex-1, subunit 3|reduced pigmentation, mouse, homolog of protein-coding 733010 BLVRA biliverdin reductase A Biliverdin reductases, such as BLVRA (EC 1.3.1.24), catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH (Komuro et al., 1996 [PubMed 8950184]).[supplied by OMIM] 1580863 10858451,19243019,19238116,18463290,17402939,17227757,15741166,15489334,14988408,12853948,12477932,12456881,8950184,8889548,8631357,8424666,7929092,20410444,19580635,19690164,20177069,12909459,20430037,20485444,20526373 644 BM710258,CA418616,U34877,X93086,NM_000712,AC004939,AC004985,AC005189,AY616754,CH236951,CH471073,AK291862,BC005902,BC008456 AAH08456,AAC35588,CAA63635,P53004,NP_000703,AAD05025,AAP21879,AAT11126,EAW94171,BAF84551,AAH05902 Hs.488143 BLVR|BVR|BVRA BVR A|OTTHUMP00000207534|biliverdin reductase A|biliverdin-IX alpha-reductase protein-coding 1314490 BLVRB biliverdin reductase B (flavin reductase (NADPH)) The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM] 1580863 8117274,19027726,18241201,15489334,12626517,12477932,11224564,8799475,8687377,8313871,8280170,7929092,7656592,1286669,12909459 645 AC010271,AC020929,AY340485,CH471126,AK312137,BC109371,BG340491,BU528444,CR591609,CR616568,D26308,D32143,NM_000713 NP_000704,AAP88933,EAW56969,EAW56970,EAW56971,EAW56972,BAG35073,AAI09372,BAA05370,BAA06874,P30043 Hs.515785 BVRB|FLR|MGC117413|SDR43U1 BVR-B|FR|GHBP|NADPH-dependent diaphorase|NADPH-flavin reductase|biliverdin-IX beta-reductase|flavin reductase|flavin reductase (NADPH)|green heme-binding protein|short chain dehydrogenase/reductase family 43U, member 1 protein-coding 1349052 BLZF1 basic leucine zipper nuclear factor 1 19536175,9129147,11056056,19064610,16710414,15489334,14702039,12477932,11739746,11739401,10602419,9823948,9442054,9373149,8125298,11739402,18029348,20211142 8548 NM_003666,AF272386,AF272387,AF272388,AF273875,AF288162,AL021068,AL356852,CH471067,AF288161,AK055883,AK223533,AK291725,AK307151,BC020716,BI458959,BI460514,CR591083,CR599652,CR622252,U79751 NP_003657,AAG37822,AAG37821,CAI19239,CAI19240,CAI19241,CAI19242,EAW90837,EAW90838,EAW90839,AAG37835,BAD97253,BAF84414,AAH20716,AAB63110,Q53EV6,Q5T532,Q5T534,Q9H2G9,ABM82306,ABM85483 Hs.130746 GOLGIN-45|JEM-1|JEM-1s|JEM1|MGC22497 Golgin-45|JEM-1short protein|OTTHUMP00000033504|cytoplasmic protein|p45 basic leucine-zipper nuclear factor protein-coding 1353512 BLZF2P basic leucine zipper nuclear factor 2 pseudogene 317729 NG_002462,AL132986 pseudo 1342866 BMF Bcl2 modifying factor The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 737633,2314029 17207965,20819778,11546872,12591950,19300516,18354037,17557568,17360431,16830229,16484005,15694340,15489334,14702039,14574334,14561217,12477932,11214971,15721256,16712791,16697956,19267218,19641506,19671867 737633,2314029 90427 NM_001003940,NM_033503,NM_001003943,NM_001003942,AC021755,CH471125,AI281003,AK024472,AY029254,AY222040,AY222041,BC060783,BC069328,BC069505,BC070043,BC104983,BC104985,BG744712,BQ064116,CB108463,N41452 ADQ32892,NP_001003940,NP_277038,NP_001003943,NP_001003942,EAW92393,BAB15762,AAK38748,AAP22965,AAP22966,AAH60783,AAH69328,AAH69505,AAH70043,AAI04984,AAI04986,Q96LC9 Hs.591104 FLJ00065 bcl-2-modifying factor protein-coding 1348038 BMI1 BMI1 polycomb ring finger oncogene 1580059,1580058 17420273,7715727,9367786,19269851,19233177,19228380,19021148,18829528,18817867,18781299,18701473,18668134,18592462,18591938,9009205,8390036,8268912,20385206,19549727,20574517,20818389,20921134,20428793,20564407,20592341,18029348,19636380,20211142,20426791,20530672,18565849,18475299,18450386,18439910,18438345,18427816,18347933,18346113,18269588,18264721,18246051,18228133,18156489,18094618,17989714,17974970,17917742,17711569,17625597,17597110,17557835,17545584,17454639,17452456,17360938,17344414,17233832,17179983,17161394,17151361,17148591,17148583,17145814,17145810,17134822,17081983,16982619,16963837,16936260,16874656,16751658,16714294,16537449,16501599,16359901,16344560,16314526,16169070,16107895,16105758,15931389,15897469,15563468,15489334,15386022,15029199,15009096,14732230,14536079,12829790,12714971,12482990,12482919,12477932,12408802,12183433,12183370,12167701,11171983,10825164,10737800,10574711,9858531,9199346,9121482,10445843,15334543,16710298,17114435,17157253,17298744,17332741,17666329,18453536,19080002,19080003,19337376,19386347,19389366,19452584,19543317,19556423,19605626,19639171,19695678,19806792,19884659,19903340,19903841,19907431,19934271,19940551,19956605,20015867,20024662,20035051,20085590,20127006,20145620,20170541,20190806,20377880,20569464,19462008,20724541,20818602,20308890,20551323 1580059,1580058 648 NM_005180,AL158211,CH471072,AI274830,AK313235,BC011652,BE008203,BT019450,CR456911,DB161566,L13689,S62198,S62286 NP_005171,CAI15954,CAI15955,CAI15956,CAI15957,CAI15958,CAI15959,EAW86148,EAW86150,EAW86151,EAW86154,BAG36046,AAH11652,AAV38257,CAG33192,AAA19873,AAB27059,P35226,Q5T8Z1,Q5T8Z2,Q5T8Z4,Q5T8Z5,Q5T8Z6,Q5U0M5,Q6IB93 Hs.380403 MGC12685|PCGF4|RNF51 B lymphoma Mo-MLV insertion region 1 homolog|OTTHUMP00000019291|OTTHUMP00000019293|OTTHUMP00000019294|flvi-2/bmi-1|murine leukemia viral (bmi-1) oncogene homolog|oncogene BMI-1|polycomb complex protein BMI-1|polycomb group RING finger protein 4|polycomb group protein Bmi1|polycomb group ring finger 4|ring finger protein 51 protein-coding 1352048 BMIQ1 body mass index quantitative trait 1 11713718 170815 1348709 BMIQ2 body mass index quantitative trait 2 11713718 192149 1349561 BMIQ3 body mass index quantitative trait 3 11713718 337895 1344681 BMIQ4 body mass index quantitative trait 4 11713718 338026 1605441 BMP1 bone morphogenetic protein 1 This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq] 16169070,19305382,19617627,19801683,20026052,20237496,20955454,16824737,3201241,7798260,19323056,18824173,18349123,18056036,17548836,17516847,17407447,17255107,17071617,16806233,16507574,16344560,15817489,15591058,15525470,15225209,14759258,14702039,12637569,12637537,12477932,12218058,11986329,11741999,11283002,11260715,10806203,10479448,9500680,8643539,8553073,8530106,8404039,2004778,15857508,12393877,20628624 649 L35278,L35279,M22488,U50330,Y08723,Y08724,Y08725,DR004420,NM_001199,NM_006129,AC105206,CH471080,AB209590,AF318323,AK126396,AK226123,AK291620,AL137746,BC002593,BC009305,BC032105,BC044626,BC101763,BC101765,BC136679,BC142953,BC143338,BC144365,BC144366,CR590306,CR592441,DA864391,BE619065,BU627735,DA720194,NR_033403,NR_033404 AAC41703,AAC41710,AAA51833,AAA93462,CAA69973,CAA69974,CAA69975,P13497,Q3MIM8,Q59F71,Q8WYX3,NP_001190,NP_006120,EAW63697,EAW63698,EAW63702,BAD92827,AAL55830,BAF84309,AAI01764,AAI01766,AAI36680,AAI42954,AAI43339 Hs.1274 FLJ44432|PCOLC|PCP|PCP2|TLD|pCP-2 bone morphogenetic protein 1|mammalian tolloid protein|procollagen C-endopeptidase|procollagen C-proteinase protein-coding 1353352 BMP10 bone morphogenetic protein 10 The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. 2302083,1580863 19913121,20628086,20634891,20734064,17068149,17921333,16049014,10072785,15815621,15489334,12477932,20608934,20237496 2302083 27302 BC105063,NM_014482,AC097495,CH471053,AF101441,BC069080,BC101734 AAI01735,AAI05064,NP_055297,AAY15075,EAW99863,AAC77462,AAH69080,O95393 Hs.158317 MGC126783 BMP-10|bone morphogenetic protein 10 protein-coding 730933 BMP15 bone morphogenetic protein 15 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. [provided by RefSeq] 1599496,734646,1580863 9849956,19263482,18614612,18308851,18227435,18006624,17905236,17826728,17464588,17027369,16645022,16508750,16464940,15809424,15772651,15136966,14970198,12477932,12446716,12419820,11741284,10998422,10888873,10443672,20547206,18980767,19346101,19376510,19438907,19553676,19635612,19651638,19933466,20067794,20236105,20364024,15489334,20734064 1599496,734646 9210 NM_005448,AF082349,AF082350,AJ132405,AL359914,CH471180,BC069155,BC117264,BC117266,NG_012894 NP_005439,AAC99768,CAB43531,CAI41226,EAW89914,AAH69155,AAI17265,AAI17267,O95972,ADR82968 Hs.532692 GDF9B|ODG2|POF4 BMP-15|GDF-9B|bone morphogenetic protein 15|growth/differentiation factor 9B protein-coding 733110 BMP2 bone morphogenetic protein 2 The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. [provided by RefSeq] 2289030,1643592,2289037,2299981,1580077,1625347,734647,1625350,1580863 19238726,19140318,19139264,19123988,19113914,19112539,19098993,19080362,19079261,19058174,19038372,19023570,18937504,18818419,18812404,18773965,18720410,18720162,18703506,18600473,18586671,18546152,18512729,18510873,18490653,18471510,18465455,18434375,18426824,18404105,18400943,18184661,15254224,15621726,17472960,15110716,2315314,11502704,18436533,16049014,17029022,17356069,19492344,19453261,19375587,19341710,19327734,19324883,19301257,19281856,19266077,19240369,18391951,18389292,18382765,18326817,18311072,18287331,18179800,18160401,18156628,18059158,18059017,18029192,18021008,17997109,17960657,17919499,17847004,17824831,17726567,17711857,17681894,17656261,17617489,17553463,17549388,17530715,17519894,17518682,17504062,17437303,17416365,17401695,17262821,17255107,17138967,17120779,17003113,16893455,16835229,16815889,16771708,16754660,16753015,16719933,16672363,16637042,16621789,16615932,16613856,16604289,16598384,16453284,16442268,16432645,16391828,16326713,16261446,16247476,16157126,16150699,16126463,16000303,15861517,15851600,15671031,15647840,15647827,15641068,15592496,15358784,15322112,15240857,15150273,15102076,15042598,15039429,15037653,15020244,14699493,14691541,14660436,14623234,14587031,14558086,14499589,13678785,12933820,12925611,12919699,12897139,12872164,12856332,12854828,12819188,12740218,12620973,12535648,12531697,12527559,12489168,12477932,12210753,12168799,12126644,12082094,12052447,12002771,11968014,11854297,11837817,11811554,11792561,11780052,11748585,11741887,11718007,11642720,11497252,11456401,11263668,11180925,10881198,10880444,10704850,10692589,10657699,10220513,10196167,10085302,10074410,9872992,9493905,9197246,8006002,7811286,3201241,2376592,2004778,1487246,15857508,10712517,7791754,11953135,20576608,20651281,20587070,20565259,20302941,20567515,20432245,15064755,16243309,17168321,17244894,17577985,17608624,17992660,18950289,19018606,19231972,19324447,19473100,19582526,19584291,19609629,19639199,19653054,19655815,19693635,19699244,19713532,19736317,19762079,19782107,19797419,19799789,19800879,19811499,19835871,19879168,19909214,19918795,20039267,20060812,20065295,20232298,20237276,20306291,20346918,20424473,20432444,20546278,8752214,9187146,9213002,9693150,20304956,20637325,20679527,20506112,20818491,20939477,21054789,16433617,20041271,19754224,19857615,20014079,20530805,20548225,19913121,20348041,20505824,20546612,20555025,20587610,20628086,20634891,20659471,20672350,20677014,20721706,20730440,20537331,20734064,20816195 2289030,1643592,2289037,2299981,1580077,1625347,734647,1625350 650 NM_001200,AF040249,AL035668,CH471133,BC069214,CR618407,M22489,GQ335529,GQ335531,NG_023233,HI961649 NP_001191,AAF21646,CAB82007,EAX10386,EAX10387,AAA51834,P12643,AAI40326,AAI48690,ACE87518,ACE86832,ACV32585,ACV32587,CBY84970 Hs.73853 BMP2A BMP-2A|bone morphogenetic protein 2|bone morphogenetic protein 2A protein-coding 1604611 BMP2K BMP2 inducible kinase This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19336002,17081983,16753015,15489334,15254968,14702039,12665801,12477932,11693963,11500515,9853615,19453261,19927351 55589 NM_198892,NM_017593,AC093841,AC098818,CH471057,AB015331,AF527532,AK021620,AK075278,AK292147,AL137275,AL137661,BC036021,CR608097 NP_942595,NP_060063,AAY40926,EAX05829,EAX05830,EAX05831,EAX05832,EAX05833,EAX05834,EAX05835,BAA34790,AAM88867,BAC11515,BAF84836,CAB70673,CAB70863,AAH36021,Q4W5H2,Q9NSY1,ABM81920 Hs.146551 BIKE|DKFZp434K0614|DKFZp434P0116|HRIHFB2017 BMP-2-inducible protein kinase|OTTHUMP00000219235 protein-coding 1344269 BMP2KL BMP2 inducible kinase-like 347359 NG_009518,Z83843 CAI42708,Q5H9B9 pseudo 735356 BMP3 bone morphogenetic protein 3 BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq] 2289037,1580863 3201241,18391951,18311777,17924656,15489334,15475196,15269709,13678778,12477932,11642720,11138004,9434787,2612162,2211625,2004778,1970330,19453261,20143330,20238409,7811286,20532035,20734064,20881960 2289037 651 NM_001201,AC093883,CH471057,BC096269,BC096270,BC096271,BC117514,M22491 NP_001192,EAX05866,AAH96269,AAH96270,AAH96271,AAI17515,AAA51836,P12645 Hs.387411 BMP-3A BMP-3|bone morphogenetic protein 3|bone morphogenetic protein 3 (osteogenic)|bone morphogenetic protein 3A|bone morphogenetic protein-3|osteogenin protein-coding 730832 BMP4 bone morphogenetic protein 4 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq] 2289025,2289037,1643593,1643597,1643592,2289003,2289004,2289006,629544,1643589,1643590,1643225,1643229,2296026,734648,1580863 17472960,11502704,9389648,19453261,19450561,19407504,19321257,19269967,19249007,19240369,19213939,19158083,19011631,18818419,18787191,18771417,18720384,18683889,18664625,18643848,18632632,18596037,18587495,18551993,18537141,18436533,18400943,18385288,18369157,18365875,18326817,18319260,18317771,18305125,18292231,18252212,18076106,18029192,18021008,17989347,17967130,17850776,17847004,17785623,17696196,17640799,17624341,17570215,17556598,17516553,17429723,17350185,17343268,17275810,17272306,17262821,17255107,17253944,17189614,17015616,17003840,17003113,16769910,16719933,16604289,16542506,16514669,16373339,16341674,16195406,16126463,15861517,15777683,15775969,15591037,15516492,15516325,15489334,15388638,15231748,15186723,15173106,15102076,15039429,15020244,14973287,14672349,14660436,12897139,12865307,12766166,12702499,12606287,12531697,12477932,12445813,12404109,12235106,12163415,12141440,12064918,11867524,11771659,11706034,11642720,11472891,11441185,11427739,11282024,11241215,11156467,10894154,10809227,10706139,10657699,10457277,9701626,8889548,8702914,8645259,8146069,7811286,7673243,7644468,7579580,7558046,12054672,12019147,3201241,8006002,11260715,10021330,11023873,12045205,12631064,15451575,16816361,17118062,17244894,17600318,17708801,17992660,18437684,19473100,19488929,19557432,19661459,19685083,19763374,19799789,19814781,19816200,19819988,19839778,19914800,19915575,19923894,20023658,20054823,20057906,20144598,20146882,20157553,20437058,20546278,8674409,8752214,9187146,19950207,20573231,12421925,17720811,20001220,17207965,20734064,20844743,20949628,21034624,14749725,18775317,9804553,20480203,20506112,21054789,20730570,21050181,19913121,20505824,20628086,20628624,20634891,20659471,20668459,20672350 2289025,2289037,1643593,1643597,1643592,2289003,2289004,2289006,629544,1643589,1643590,1643225,1643229,2296026,734648 652 HB975907,NM_001202,NM_130850,NM_130851,NG_009215,AF035427,AF035428,AF210053,AL138479,CH471061,EU518936,U43842,BC020546,BQ083000,BU683974,BX161385,BX161438,CR595138,CR603423,CR615807,D30751,M22490 ADQ32405,CBE74713,NP_001193,NP_570911,NP_570912,EAW80628,EAW80629,EAW80630,EAW80631,ACB21039,AAC72278,AAH20546,CAD61876,CAD61909,BAA06410,AAA51835,P12644,Q53XC5,ABW03634 Hs.68879 BMP2B|BMP2B1|MCOPS6|OFC11|ZYME BMP-2B|BMP-4|bone morphogenetic protein 2B|bone morphogenetic protein 4 protein-coding 1314330 BMP5 bone morphogenetic protein 5 This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. 1580863 17656261,17220169,16542506,15861517,15516325,15489334,14660436,14574404,12477932,12131877,11967953,11865031,11807867,11642720,11580864,11564221,9950587,8630036,2263636,1427904,20734064,19584291,19935299,20021689,20379614,7811286 653 AL133386,AL137178,CH471081,S81957,AK291559,BC027958,CR605366,M60314,NM_021073,AK303576 NP_066551,CAB81657,CAC12765,EAX04447,BAF84248,AAH27958,AAA36736,P22003,BAG64596 Hs.296648 MGC34244 BMP-5|bone morphogenetic protein 5 protein-coding 1353193 BMP6 bone morphogenetic protein 6 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq] 2289017,2289018,2289024,1643590,2289020,1580863 20567515,16886151,16527843,18436533,19308091,19266077,19252488,19245827,19093115,19075223,18949431,18931653,18688853,18683889,18632632,18391951,18349123,18326817,18308844,18187665,18070108,17924656,17899540,17879955,17575215,17574840,17262821,17238135,16604289,16547600,15877825,15861517,15784727,15548695,15516325,15186723,14660436,14623234,14574404,14558086,13130469,12897139,12477932,12140680,11401330,10582704,10504300,9512655,9435314,9417921,9331107,9116752,8089189,7605353,2263636,1453478,1427904,17244894,17577985,18805502,19539911,19543302,19694819,19718049,19765379,20016212,20048150,20379614,7811286,20573596,20844121,20530805,20460105,20546612,20587610,20634891,20734064 2289017,2289018,2289024,1643590,2289020 654 BC113019,BC128031,M60315,AF083030,AL133541,AL135778,CH471087,AK300628,BC096084,BC096085,BC099624,BC099625,BC111763,BC112352,BC113018,NM_001718 AAI13019,AAI13020,AAI28032,AAA36737,P22004,Q4JCQ2,Q4VBA3,AAI60106,NP_001709,AAC33283,CAI19472,CAI19426,EAW55219,BAG62319,AAH96084,AAH96085,AAH99624,AAH99625,AAI11764,AAI12353 Hs.285671 VGR|VGR1 BMP-6|VG-1-R|VG-1-related protein|VGR-1|Vg1-related sequence|bone morphogenetic protein 6|vegetal related growth factor (TGFB-related)|vegetal-related (TGFB related) cytokine 2289435 BMD4_H protein-coding 1350917 BMP6P1 bone morphogenetic protein 6 pseudogene 1 19738031,9074928 266700 NG_000002,D87000 TGF-beta1P|TGFB1P pseudo 1344234 BMP7 bone morphogenetic protein 7 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. [provided by RefSeq] 1643589,2289029,2289030,2289031,2289041,1643225,2289034,1601494,2289039,1643590,2289032,2289033,2289036,2289037,2289038,1580863 7560881,2357959,2263636,1427904,11438941,19950204,20530416,20734064,12478285,12667445,14679171,11502704,18436533,9311995,16049014,14517293,19453261,19283074,19240369,19116903,19112509,18980801,18978678,18621057,18560367,18514338,18496506,18465455,18393351,18349123,18328806,18292470,18259822,18032587,18029192,17909016,17724140,17656261,17624341,17530716,17530715,17522432,17497692,17478078,17415633,17264867,17262821,17018615,17003840,16899516,16846353,16831023,16807538,16719933,18508541,16686760,16646979,16419056,16344560,16126463,15994952,15929982,15861517,15574511,15489334,15100360,15020244,14981086,14751565,14702039,14660436,14623234,14587033,12925612,12919879,12811818,12792780,12741987,12740218,12734180,12594282,12478660,12477932,12385776,11780052,11769973,11472891,11401538,10912525,9872992,9748228,8889548,8605097,8570652,8297380,8006002,7791754,20506283,12631064,17244894,18184661,18437684,19056781,19108831,19180920,19301001,19396502,19403392,19453255,19597895,19725097,19816049,19846067,20085912,20093492,20126477,20237496,20424473,20546278,9693150,21110425,20573231,20632031,19913121,20188872,20628086,20677014,20887146 1643589,2289029,2289030,2289031,2289041,1643225,2289034,2289039,1643590,2289032,2289033,2289036,2289037,2289038 655 HC190935,NM_001719,AF210054,AF289090,AL122058,AL157414,CH471077,CQ786476,CS150682,CS237122,CS279049,CS284582,AK094784,AK291186,AK312419,BC004248,BC008584,BM683430,CR610754,DA740733,EU679366,M60316,X51801,CS410513,CS455741,CS670983,GM868923 CBI69260,P18075,Q9H2W7,Q9NQQ8,ABM82420,ABM85611,ABW03413,NP_001710,AAG43508,AAF97256,CAB90273,CAC08434,EAW75529,EAW75530,EAW75531,CAG17752,CAJ29673,CAJ47525,CAJ86525,CAJ98562,BAF83875,BAG35329,AAH08584,ACD50899,AAA36738,CAA36100,CAL47728,CAL85403,CAP07469,CAV07685 Hs.473163 OP-1 BMP-7|OTTHUMP00000166094|bone morphogenetic protein 7|osteogenic protein 1 protein-coding 1350211 BMP8A bone morphogenetic protein 8a 1580863 16710414,14702039,12477932,20237496,20424473 353500 NM_181809,AL365277,CH471059,AA732526,AK024413,AK127199,AY303954,BC093743,BC112044,BC131617,BU616301 NP_861525,CAI16418,EAX07272,EAX07273,BAB14915,BAC86882,AAP74559,AAH93743,AAI31618,Q4G0H3,Q6ZSR5,Q7Z5Y6,Q9H7R1 Hs.472497 FLJ14351|FLJ45264 BMP-8A|bone morphogenetic protein 8A protein-coding 1353706 BMP8B bone morphogenetic protein 8b The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. [provided by RefSeq] 17474147,20379614,16710414,16314833,15063762,12477932,11427739,10894154,9070944,7757816,1460021,20734064 656 NM_001720,AL033527,AL049824,CH471059,AY303955,BC023526,BC108678,BQ888513,F07575 NP_001711,CAB75681,EAX07254,AAP74560,AAI08679,P34820,Q32NE5 Hs.664022 BMP8|MGC131757|OP2 BMP-8|BMP-8B|bone morphogenetic protein 8 (osteogenic protein 2)|bone morphogenetic protein 8B|dJ118J21.1 (bone morphogenetic protein 8 (osteogenic protein 2))|osteogenic protein 2 protein-coding 1604514 BMPER BMP binding endothelial regulator 18787191,15489334,14766204,14702039,12897139,12690205,12477932,11853319,20869035 168667 NM_133468,AACC02000103,AC007350,AC010002,AB075845,AK289963,AY324650,BC060868,BX380517,CR609827 NP_597725,EAL24468,BAB85551,BAF82652,AAP89012,AAH60868,Q8N8U9 Hs.660998 CRIM3|CV-2|CV2 BMP-binding endothelial regulator precursor protein|BMP-binding endothelial regulator protein|OTTHUMP00000158859|bone morphogenetic protein-binding endothelial cell precursor-derived regulator|crossveinless 2|crossveinless-2|hCV2|protein crossveinless-2 protein-coding 734372 BMPR1A bone morphogenetic protein receptor, type IA The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq] 1580863,734650,1600589,1600590,1600591 9950587,9730621,9663660,9547239,9525338,8707881,8702914,8605097,8592941,7791754,8006002,10880444,10692589,9738003,15148321,19438883,20587070,12065756,18436533,15621726,16886151,9389648,8397373,17356069,18937504,18823382,18667463,18510548,18262054,18178612,18160401,17873119,17624341,17573831,17513295,17101085,17081983,16672363,16525031,16436638,16436528,16226113,15940369,15489334,15351706,15252450,15235019,12630959,12620973,12477932,12417513,12136244,12135884,11536076,11438941,11401330,11381269,11282024,11278302,11263668,11241215,11139569,10881198,10850425,10712517,10504300,10051328,11580864,15064755,15657086,16385451,18184661,19244313,19453261,19463221,19502417,19773747,20346360,7644468,16341674,16613856,20634891,20693682,20734064 734650,1600589,1600590,1600591 657 NM_004329,NG_009362,AC021036,AC025268,AC067750,CH471142,AB451405,AK291764,BC028383,BM819272,CR608899,DQ786215,Z22535,HI961666 NP_004320,EAW80320,BAG70219,BAF84453,AAH28383,CAA80257,P36894,ABM82450,ABM85640,CBY84973 Hs.524477 10q23del|ACVRLK3|ALK3|CD292|SKR5 ALK-3|BMP type-1A receptor|BMPR-1A|OTTHUMP00000020014|activin A receptor, type II-like kinase 3|activin receptor-like kinase 3|bone morphogenetic protein receptor type-1A|bone morphogenetic protein receptor, type 1a|serine/threonine-protein kinase receptor R5 protein-coding 1353972 BMPR1APS1 bone morphogenetic protein receptor, type IA pseudogene 1 359949 1351193 BMPR1APS2 bone morphogenetic protein receptor, type IA pseudogene 2 359950 1354405 BMPR1B bone morphogenetic protein receptor, type IB This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. [provided by RefSeq] 1334470,1600593,1580863 20732626,11266516,15064755,18184661,19738052,20201926,12065756,15621726,14523231,18436533,17356069,19513897,19453261,19451094,19135982,18773965,18619554,18292470,17624341,17381068,17363346,17203235,17001689,16436528,16014698,15897891,15805157,15761153,15489334,15235019,15192043,14576167,12477932,12419820,12135884,11781009,11483516,11420127,11401330,11312159,11282024,11279102,10850425,10712517,10504300,9950587,9872992,9730621,9525338,9178898,8707881,8702914,8605097,8140412,7811286,18758450,7791754,8006002,15775969,10051328,20587070,20634891,20734064 1334470,1600593 658 NM_001203,NG_009245,AC004061,AC092609,AC093634,AC105395,CH471057,AK293008,AK299930,AK313642,AW299723,BC047773,BC069796,BC069803,D89675,U89326 NP_001194,EAX06060,BAF85697,BAG61763,BAG36400,AAH47773,AAH69796,AAH69803,BAA19765,AAC28131,O00238 Hs.598475 ALK-6|ALK6|CDw293 BMP type-1B receptor|BMPR-1B|OTTHUMP00000161622|OTTHUMP00000219359|OTTHUMP00000219880|activin receptor-like kinase 6|bone morphogenetic protein receptor type-1B|serine/threonine receptor kinase protein-coding 735373 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq] 1580076,1580077,1580863 7791754,20587070,20410205,17624341,17576816,17515463,17472960,17363346,17322283,17318011,17277049,17203235,17102831,16982201,16782755,16717148,16615932,16436528,16429403,16429395,16344560,16339917,16339782,16155937,16122479,16002577,15965979,15824058,15775752,15699281,15687131,15591269,15516492,15492256,15489334,15358693,15354178,15295086,15235019,15146475,15055271,15031260,14702039,14676131,14583445,12963706,12543773,12477932,12415595,12358323,12221115,12135884,11714695,11686884,11484688,11401330,11115378,11015450,10973254,10964520,10903931,10880444,10712517,10051328,9525338,9193425,9054941,8707881,8702914,8592941,7890683,15188402,15621726,18436533,12045205,15657086,18364108,11502704,17356069,19531247,19453261,19424179,19390056,19357154,19307479,19206171,19195606,19059957,19051722,18792970,18647753,18621057,18503968,18496036,18436795,18356561,18342887,18321866,18292470,18221724,18187665,18159113,17700526,17641158,7673243,7644468,16282533,10504300,12819188,17992660,19223935,19324947,19552837,19578724,19628780,19634078,19782107,19844076,19864167,19913121,20002458,20011660,20096498,20346360,20379614,20534176,20734064,21070126,19265191,20955454,20870717,20634891 1580076,1580077 659 NM_001204,NG_009363,AC009960,AC064836,AC073410,CH471063,AK023426,AK093832,AK123579,AK292430,AY277593,BC018743,BC032011,BC035097,BC041039,BC043650,BC052985,BF063564,BG530017,BQ889263,BQ896556,BU176845,C15977,CR594123,D50516,DA787547,DB233604,U20165,Z48923 NP_001195,AAX76517,AAY24146,AAX88941,EAW70309,EAW70310,BAF85119,AAQ18032,AAH52985,BAA09094,AAC50105,CAA88759,Q13161,Q13873 Hs.471119 BMPR-II|BMPR3|BMR2|BRK-3|FLJ41585|FLJ76945|PPH1|T-ALK BMP type II receptor|BMP type-2 receptor|BMPR-2|OTTHUMP00000164985|bone morphogenetic protein receptor type II|bone morphogenetic protein receptor type-2|bone morphogenic protein receptor, type ii (serine/threonine kinase)|type II activin receptor-like kinase|type II receptor for bone morphogenetic protein-4 protein-coding 1345685 BMS1 BMS1 homolog, ribosome assembly protein (yeast) This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22. 1580863 19204726,16344560,15635413,15489334,12477932,11790298,11779832,11565749,10942432,8724849,19615732 9790 NM_014753,AL022344,CH471160,AI184520,AI718109,AK308420,BC043345,BC150252,BX485446,D80009,DB064246 NP_055568,CAI23617,EAW86571,EAW86572,EAW86573,AAH43345,AAI50253,BAA11504,Q14692 Hs.10848 BMS1L|KIAA0187 BMS1-like, ribosome assembly protein|bms1-like, ribosome assembly protein (yeast)|ribosome assembly protein BMS1 homolog|ribosome biogenesis protein BMS1 homolog protein-coding 1348383 BMS1P1 BMS1 pseudogene 1 16344560,11779832 728053 NR_026566,AL450334,AL603982,DA245014 Hs.645346 BMS1LP1|bA556L1.3 bms1l pseudogene 1 pseudo 1345179 BMS1P2 BMS1 pseudogene 2 11779832 414216 NG_006110,AL391137 BMS1LP2 bms1l pseudogene 2 pseudo 1347648 BMS1P3 BMS1 pseudogene 3 414217 NG_006111,AL136982 BMS1LP3 bms1l pseudogene 3 pseudo 1351957 BMS1P4 BMS1 pseudogene 4 12477932,11779832 729096 NR_026592,AC022400,AC073389,CH471083,AK294783,BC046139,BC063124,BC099910,BX955228 EAW54513,BAG57908 Hs.559827 BMS1LP4 pseudo 1348554 BMS1P5 BMS1 pseudogene 5 12477932,11779832 399761 NR_003611,AL731733,BX641006,AK307333,AL832069,BC017177,BC024278,BC065722,BC131568,CR936774 Hs.314437,Hs.645346 BMS1LP5 bms1l pseudogene 5 pseudo 1346721 BMS1P6 BMS1 pseudogene 6 11779832 100132209 NG_011425,AL591684 BMS1LP6 pseudo 1343586 BMS1P7 BMS1 pseudogene 7 11779832 100133265 NG_011418,AL603966 BMS1LP7|KIAA0187|bA164N7.1 pseudo 1605440 BMX BMX non-receptor tyrosine kinase Tyrosine kinases are either receptor molecules, which contain transmembrane and extracellular domains, or nonreceptor proteins, which are located intracellularly. One family of nonreceptor TKs includes the genes TEC (MIM 600583), TXK (MIM 600058), ITK (MIM 186973), and BTK (MIM 300300). All of these proteins are homologs of the Drosophila Src28 TK and contain an SH3 and SH2 domain upstream of the TK domain.[supplied by OMIM] 12370298,11877430,8650201,16186805,17474147,9520419,7970727,18029348,19464057,18413754,18402776,18292575,18196928,18025155,17823122,16932810,16912182,15489334,15342556,15207703,14981536,14676838,14532277,12573241,12477932,11751885,11382770,11331870,11278797,11013262,10962576,10688651,10196179,9373245,9323053,8790141,20056178,20206622,20864667,20559570,16025104 660 NM_001721,AC097625,CH471074,AF045459,AK291824,AK313568,BC016652,BP236451,BQ226991,CB998198,U08341,X83107,NM_203281,NG_013227 ABM81985,ABM87813,NP_975010,NP_001712,EAW98889,EAW98890,AAC08966,BAF84513,BAG36341,AAH16652,AAA17744,CAA58169,P51813 Hs.495731 ETK|PSCTK2|PSCTK3 Etk/Bmx cytosolic tyrosine kinase|NTK38 tyrosine kinase|bone marrow tyrosine kinase gene in chromosome X protein|cytoplasmic tyrosine-protein kinase BMX|epithelial and endothelial tyrosine kinase protein-coding 1319162 BNC1 basonuclin 1 The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. This gene seems to have multiple alternatively spliced transcript variants, but their full-length nature is not known yet. There seems to be evidence of multiple polyadenylation sites for this gene. 1580863 9099851,1332044,8034748,16891417,15146197,12477932,11076863,10839715,10524234,10462520,10449744,9727087,9687312,9223293,9151672,15694340,11802773 646 NM_001717,AC103876,CH471188,U59692,U59693,U59694,AI921950,CN260997,L03427,AK302992 NP_001708,EAW62424,AAB53028,AAA35584,Q01954,AAI11599,BAH13871 Hs.459153 BNC|BSN1|HsT19447 zinc finger protein basonuclin|zinc finger protein basonuclin-1 protein-coding 1321747 BNC2 basonuclin 2 16942855,16891417,16344560,15081112,14988505,14702039,12477932,15949438,18029348,19648919,19670330,19875614,20379614,20852632,18519826,19913121,20585627,20628086 54796 NM_017637,AL162418,AL449983,AL450003,AL450105,AK000050,AK025882,AK092247,AK131398,AK299073,AK304745,AW188023,AY438376,BC037160,BX641030,CR933649,DA494074,DB282126,DQ884933,DQ884934,DQ884936,DQ884937,DQ884938,DQ884939,DQ884940,DQ884941,DQ884942,DQ884944,DQ884945,DQ884946,DQ884947,DQ884948,R69412 NP_060107,CAM21221,CAM21222,BAA90908,BAB15269,BAC03837,BAD18545,BAG61139,BAG65504,AAR99389,CAI45950,ABI78982,ABI78983,ABI78984,ABI78985,ABI78986,ABI78987,ABI78988,ABI78989,ABI78990,ABI78991,ABI78992,ABI78993,ABI78994,ABI78995,Q06HB5,Q06HB6,Q06HB7,Q06HB8,Q06HB9,Q06HC0,Q06HC1,Q06HC2,Q06HC3,Q06HC4,Q06HC5,Q06HC6,Q06HC7,Q5H9S4,Q6ZN30,AAI56478,AAI72513 Hs.656581,Hs.693436 BSN2|DKFZp686A01127|FLJ20043|FLJ34928 OTTHUMP00000126958|zinc finger protein basonuclin-2 protein-coding 732440 BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. Alternative splicing of this gene results in four protein products with identical N- and C-termini. 2314029,634759 19064571,17207965,7954800,15272311,15489334,12477932,10217402,7478990,1332047 2314029,634759 662 NM_013979,NM_013980,NM_001205,NM_013978,AC008378,AY246554,CH471062,AF083956,AF083957,AF083958,AU311051,AY216799,BC010959,BP384034,CR597535,CR611484,CR619435,U15172 ADQ32671,NP_053582,NP_053583,NP_001196,NP_053581,AAO61090,EAW61405,EAW61406,EAW61407,EAW61408,EAW61409,EAW61410,EAW61411,EAW61412,EAW61413,AAC33124,AAC33125,AAC33126,AAO91805,AAH10959,AAC00020,Q12981 Hs.145726 NIP1|SEC20|TRG-8 BCL2/adenovirus E1B 19 kDa protein-interacting protein 1|transformation-related gene 8 protein|vesicle transport protein SEC20 protein-coding 1319009 BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. Though the specific function is unknown, it interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. [provided by RefSeq] 634550,1580863 10799524,20704564,7954800,10381623,17961507,16189514,15652341,15489334,12944407,12901880,12477932,11744098,11741952,10954711,10551883,7478990,15923648,20677014,20855536 634550 663 NM_004330,AC092755,AY268590,CH471082,AK299628,AK308237,BC002461,BX378770,CR597487,CR616047,DC425485,U15173 NP_004321,AAP03429,EAW77575,EAW77576,BAG61556,AAH02461,AAC00021,Q12982,ABM82882,ABM86068 Hs.646490 BNIP-2|NIP2 BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 protein-coding 1350913 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. This gene contains a BH3 domain and a transmembrane domain, which have been associated with pro-apoptotic function. The dimeric mitochondrial protein encoded by this gene is known to induce apoptosis, even in the presence of BCL2. [provided by RefSeq] 634550,2314028,2314029,1580863 20436456,8125298,7478990,18029348,19505343,19535684,19641497,19668230,19690192,19956881,20026130,20082478,20100468,20201926,20437871,20637734,17207965,20855536,10381623,9396766,10891486,7954800,9973195,19339613,19273585,19088195,18838203,18728663,18551130,18371312,18359286,18163427,18092960,18059169,17928295,17786027,17729412,17638890,17638546,17600828,17576813,17576382,17394490,17360363,17255267,16803523,16799636,16765911,16357180,16219518,16217754,16189514,16169070,16002567,15856026,15709167,15560738,15489334,15328198,15289340,15164054,12879018,12690108,12477932,12215374,10625696,9867803,9575197,9373149,20973794,20368736 634550,2314028,2314029 664 NM_004052,AL162274,AL732395,AY886764,CH471066,CQ975900,AF002697,AK222626,AK295136,BC009342,BC021989,BC067818,BC080643,CR626676,U15174 NP_004043,CAD13201,AAW62256,EAW49143,CAI45349,AAC16738,BAD96346,BAG58159,AAH21989,AAH67818,AAH80643,AAC00022,Q12983,Q53HF4,Q66K24,Q6NVY4,ADQ33204 Hs.144873 NIP3 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 protein-coding 1350585 BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. The protein encoded by this gene is a functional homolog of BNIP3, a proapoptotic protein. This protein may function simultaneously with BNIP3 and may play a role in tumor suppression. [provided by RefSeq] 2314029,1580863 12477932,11230166,10467396,9867803,9523198,16169070,19064571,20010802,10381623,9973195,19273585,18670647,18551130,18048346,17081983,16219518,16189514,15607964,15489334,14720367,12663450,12606722,20819778 2314029 665 AC011726,AC022911,AF255051,CH471080,AA946755,AB004788,AF060922,AF067396,AF079221,AF452712,AF536326,AK290213,AK300286,AK300727,AK307195,AK315870,AK316315,AL132665,BC001559,BC009603,BF337139,BQ719112,BT019500,BT019501,CD244492,CD558918,CR456701,CR598147,CR606234,CR607895,CR617632,NM_004331,CR623582,CR624662,CR624736 NP_004322,AAF70290,EAW63576,BAA28692,AAG43134,AAD03589,AAC27723,AAL50978,AAN04051,BAF82902,BAG62043,BAG62400,BAF98761,BAH14686,CAI46217,AAH01559,AAH09603,AAV38307,AAV38308,CAG32982,O60238,Q6IBV1,Q9H3K3,ACE87424,ACE86738 Hs.131226 BNIP3a|NIX BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like|BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A|BCL2/adenovirus E1B 19-kd protein-interacting protein 3a|NIP3-like protein X|NIP3L|adenovirus E1B19k-binding protein B5 protein-coding 1348562 BNIP3P BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 319138 NG_002516,AL139023 pseudo 1319839 BNIPL BCL2/adenovirus E1B 19kD interacting protein like 12901880,11741952,12681488,17562024,16710414,16344560,16143817,15489334,15112343,14702039,12477932,9973195,20800603,20383146 149428 BC074780,CD687603,CU451236,DB202257,CH471121,AF193056,AK092595,AY033000,AY078983,AY078984,BC027868,BC074779,NM_138278,NM_001159642,AL590133 AAH74780,Q5SZF6,Q7Z465,CAI13344,CAI13345,CAI13347,CAM16833,EAW53483,EAW53484,AAG22484,AAK54348,AAL85483,AAL85484,AAH27868,AAH74779,NP_612122,NP_001153114 Hs.591473 BNIP-S|BNIPL-1|BNIPL-2|PP753 BNIP-2 similar|OTTHUMP00000033116|bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein protein-coding 1605311 BOC Boc homolog (mouse) CDON (MIM 608707) and BOC are cell surface receptors of the immunoglobulin (Ig)/fibronectin type III (FNIII; see MIM 135600) repeat family involved in myogenic differentiation. CDON and BOC are coexpressed during development, form complexes with each other in a cis fashion, and are related to each other in their ectodomains, but each has a unique long cytoplasmic tail.[supplied by OMIM] 11782431,16647304,15520228,14702039,12975309,12720294,12634428,12477932,8889548,16169070,20519495,20053908,20306291,15923648 91653 NM_033254,AC026329,CH471052,AK056359,AK074556,AK090455,AK309055,AL133599,AY027658,AY358328,BC032071,BC034614,BC075829,BC136390,BM673254,BX647184 Q9BWV1,NP_150279,EAW79643,EAW79644,EAW79645,EAW79646,BAB71163,BAC11057,BAC03436,AAK14795,AAQ88694,AAH34614,AAI36391,Q96DN7 Hs.591318 OTTHUMP00000214765|brother of CDO protein-coding 1348370 BOD1 biorientation of chromosomes in cell division 1 737633 20881960,17938248,16344560,15489334,12477932 737633 91272 NM_138369,NM_001159651,AC010339,CH471062,AK301982,AY303777,BC003114,BC007436,BQ881883,CR592937,CR599483,CR607873,DA506589,DA953541 NP_612378,NP_001153123,EAW61396,BAG63390,AAP76182,AAH03114,AAH07436,Q96IK1 Hs.425091 FAM44B biorientation defective 1|biorientation defective protein 1|biorientation of chromosomes in cell division protein 1|family with sequence similarity 44, member B protein-coding 1344806 BOD1L biorientation of chromosomes in cell division 1-like 17081983,15489334,14702039,12477932,10718198,20379614 259282 AC006445,CH471069,AB037748,AF528529,AK025361,AK025965,AK090534,AK122806,AK298130,AL137350,AL137652,BC016987,BC043603,BC065546,BC087835,BX648206,NM_148894,CR614809 NP_683692,EAW92716,BAA92565,AAM94279,BAB15299,BAG60410,CAB70705,AAH16987,AAH65546,AAH87835,Q8NFC6,AAI72451 Hs.726133 FAM44A|FLJ33215|KIAA1327 biorientation of chromosomes in cell division protein 1-like|family with sequence similarity 44, member A protein-coding 1345757 BOD1P biorientation of chromosomes in cell division 1 pseudogene 737633 17938248,15489334,12477932 737633 284257 NR_033372,AC100775,AK127964,AK301799,BC021740,BC035018 BAG54606,BAG63251,Q8IYS8 Hs.127882 FAM44C|MGC33608 pseudo 737138 BOK BCL2-related ovarian killer The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains all four BCL-2 like domains (BH1, 2, 3 and 4) and is a pro-apoptotic BCL-2 protein identified in the ovary. [provided by RefSeq] 70678,2313975,1580863 15489334,15102863,12477932,11034351,10811653,10579309,9535847,9356461,19287972,16772296,16302269,15868100,15775999,20171287,19942931 70678,2313975 666 AC110299,AC133528,CH471063,AF089746,AF174487,BC006203,BC017214,BG118500,BI550157,BT007272,BU855574,BX372066,CD368092,H17007,NM_032515 NP_115904,AAY14684,AAY14917,EAW71268,EAW71269,EAW71270,EAW71271,EAW71272,EAW71273,EAW71274,AAF09129,AAD51719,AAP35936,Q53NU8,Q53QM7,Q9UL32,Q9UMX3,ABM84167,ABM87570 Hs.293753 BCL2L9|BOKL|MGC4631 bcl-2-like protein 9|bcl-2-related ovarian killer protein|bcl2-L-9|hBOK protein-coding 2946885 BOKAS BOK antisense RNA (non-protein coding) 19287972 100379249 AC110299,FJ185168,NR_033346 BOK-AS1|BOKAS|NAToB|NCRNA00151 miscrna 1606296 BOLA1 bolA homolog 1 (E. coli) 17207965,20877624,17353931,18029348,18548201,16964243,16710414,15489334,14718656,12477932,12107410,10810093 51027 NM_016074,AL591493,CH471121,CS072310,AF151901,AK313014,BC002771,BC063405,CA389141 ADQ33110,NP_057158,CAI12571,EAW53599,EAW53600,EAW53601,EAW53602,CAI93448,AAD34138,BAG35849,AAH63405,Q9Y3E2 Hs.13880 CGI-143|MGC75015|RP11-196G18.18|hBolA OTTHUMP00000013911|bolA-like 1|bolA-like protein 1 protein-coding 1605757 BOLA2 bolA homolog 2 (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. [provided by RefSeq] 18548201,15489334,14718656,12665801,12477932 552900 NM_001031827,NG_005304,AC133555,AF060511,AK027255,AK295153,BC022832,BC062756,BC104642,BC130401,BC130403,BC144688,BG032591 NP_001026997,AAG43129,BAG58169,AAH22832,AAI30402,AAI30404,AAI44689 Hs.444600,Hs.655267 BOLA2A|My016 BolA-like protein 2|BolA-like protein 2 member A|bolA-like 2 protein-coding 1605447 BOLA2B bolA homolog 2B (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. This duplicated region contains a complete copy of the short splice variant of the BOLA2 gene and a partial copy of the long splice variant of the BOLA2 gene. [provided by RefSeq] 15489334,14718656,12665801,12477932 654483 NM_001039182,NG_005305,AC106782,BC137532,BC137534 NP_001034271,AAI37533,AAI37535,Q9H3K6,AAI48565,AAI53145 Hs.647333 BOLA2 BolA-like protein 2 member B|bolA-like 2B|bolA-like protein 2|bolA-like protein 2B protein-coding 1606380 BOLA3 bolA homolog 3 (E. coli) 20379614,18548201,15815621,14718656,12477932 388962 NM_212552,AC073263,CH471053,AI652095,BC017744,BC028282,BC042036,BC046531,BU600037,DQ225187,NM_001035505 NP_001030582,NP_997717,AAX93059,EAW99699,EAW99700,AAH28282,ABB04094,Q53S33,Q8N338,AAI48672,AAI53209 Hs.61472 bolA-like 3|bolA-like protein 3 protein-coding 1352689 BOLL bol, boule-like (Drosophila) This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 16001084,12499397,11390979,19342699,18997786,17114206,15705409,15489334,15379971,15070965,15066460,14702039,12477932,8657280,12511597,17207965,19417033,19865085 66037 NM_197970,NM_033030,AC011997,CH471063,AF272858,AI424966,AK058099,AK093453,AK097795,AK098824,AK302817,AM295005,BC033674,HC044489 NP_932074,NP_149019,AAX93045,EAW70171,EAW70172,EAW70173,AAK58689,BAB71664,BAC04171,BAG64016,CAL25726,AAH33674,Q8N9W6,ADQ32687,CBH30574 Hs.169797 BOULE protein boule-like protein-coding 1321585 BOP1 block of proliferation 1 1580863 19615732,16804918,16043514,16738141,17353269,18809582,17353931,17081983,16964243,16565220,15635413,15489334,15225545,12477932,12429849,12048210,11790298,11522832,11390653,11237751,9829985,8590280 23246 AC145291,AC233992,NM_015201,AC110280,CH471162,AB060694,AK024840,AK290677,AK293719,AK310015,AK315612,BC001086,BC005160,BC007274,BC013787,BC013980,BC017674,BC073813,BC098446,BE280443,BQ961780,D50914 NP_056016,EAW82133,BAB70666,BAF83366,BAG57150,BAG37981,AAH01086,AAH05160,AAH07274,AAH13787,AAH13980,AAH17674,AAH73813,AAH98446,BAA09473,Q14137,Q4G0D9,Q6DKJ9,Q96Q25,ABM87814,ABW03699 Hs.645279 KIAA0124 block of proliferation 1 protein|ribosome biogenesis protein BOP1 protein-coding 1347316 BPESC1 blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding) 15489334,12477932,10995571 60467 NR_026783,AC069525,AF196864,CH471052,AF196865,BC119686,BC119687 AAG23726,EAW79046,AAG23727,Q9GZL8 Hs.512673 NCRNA00187 miscrna 1605438 BPGM 2,3-bisphosphoglycerate mutase 2824335,1387804,1320611,152321,2542247,17052986,16344560,15489334,15258155,14702039,12690205,12477932,9832630,9308888,8889548,8440681,6313356,3036106,3023066,2844822,17207965 669 NM_199186,NM_001724,AC009276,CH236950,CH471070,M23068,AB209044,AK097778,AK315439,BC017050,BM090687,BU608668,BU664387,BX473275,CB994648,CF242942,CR590616,CR593475,CR594656,CR598334,CR598794,CR599636,CR599848,CR602739,CR602979,CR603055,CR606892,CR609356,CR610964,CR619111,CR620521,CR622667,CR624843,CR625091,CR625693,CR626310,CR626473,DB047822,DB049554,X04327,NG_012921,HH770041,HH770403 NP_954655,NP_001715,EAL24067,EAW83821,EAW83822,EAW83823,EAW83824,AAA51840,BAD92281,BAG53525,BAG37827,AAH17050,CAA27858,P07738,Q59GR5,ADQ31825,CBX85738,CBX85919 Hs.198365 2,3-bisphosphoglycerate mutase, erythrocyte|2,3-bisphosphoglycerate synthase|BPG-dependent PGAM|bisphosphoglycerate mutase|erythrocyte 2,3-bisphosphoglycerate mutase protein-coding 1316844 BPHL biphenyl hydrolase-like (serine hydrolase) This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described. 20237496,7759552,18256025,18163890,16316342,16028355,15832508,14574404,12732646,12477932,9721218,8889548,2393862,20877624 670 NR_026650,NR_026648,NM_004332,NR_026649,AJ001980,AL031963,CH471087,AJ617684,AK297518,AK314909,AL832502,BC037778,BC106901,BM977067,DC352501,X57653,X81372 NP_004323,CAD70626,CAD70627,EAW55119,EAW55120,EAW55121,EAW55122,EAW55123,CAE85120,BAG59925,BAG37421,AAH37778,AAI06902,CAA40859,CAA57137,Q49AI2,Q86WA6 Hs.10136 BPH-RP|MCNAA|MGC125930|MGC41865|VACVASE OTTHUMP00000211210|biphenyl hydrolase-like protein|biphenyl hydrolase-related protein|breast epithelial mucin-associated antigen|valacyclovir hydrolase|valacyclovirase protein-coding 1352137 BPI bactericidal/permeability-increasing protein This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has bactericidal activity on gram-negative organisms. [provided by RefSeq] 1580079,1580863 8330906,7517398,3667613,2501794,17488601,8409400,2722846,19275920,17898994,17678885,17675509,17483073,17239348,17012258,16893388,16861658,16380496,16282362,15758620,15590754,15342556,15009116,14623259,12913926,12784398,12738651,12710851,12521224,12477932,11891303,11780052,11420435,11373419,9616176,9240454,9188532,8432532,19423540,19692168,19702878,20174761,20237496,20406964,20438785,20463618,20541026,20412700,20889312,19913121,20628086 1580079 671 AL359555,AL391692,AL499625,AL583962,CH471077,CQ800679,Y14215,Y14216,Y14217,Y14218,Y14219,Y14220,Y14221,Y14222,Y14223,Y14224,Y14225,Y14226,Y14227,Y14228,Y14229,AF322588,AI436120,AK296568,AK315328,BC032230,NM_001725,BC040955,BP306215,DQ414688,J04739 NP_001716,CAC13043,CAM25266,CAM25267,CAC10453,CAI41452,CAC27350,CAI43242,CAI43244,EAW76035,CAG28072,AAG42844,BAG59188,BAG37729,AAH40955,ABD66755,AAA51841,P17213 Hs.529019 CAP 57|bactericidal permeability-increasing protein protein-coding 1322016 BPIL1 bactericidal/permeability-increasing protein-like 1 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq] 1580863 16740002,15489334,15340161,12975309,12837268,12477932,12185532,11971875,11780052,11018263,20237496 80341 NM_025227,AL121756,CH471077,AF465765,AK027068,AK172819,AK304064,AY358723,BC034415,NG_016714 NP_079503,CAC18884,EAW76341,AAM73983,BAD18788,BAG64971,AAQ89085,AAH34415,Q6ZME0,Q8N4F0,ABM83406,ABM86617 Hs.257045 C20orf184|LPLUNC2|RYSR|dJ726C3.2 bactericidal/permeability-increasing protein-like 1|long palate, lung and nasal epithelium carcinoma-associated protein 2 protein-coding 1323273 BPIL2 bactericidal/permeability-increasing protein-like 2 1580863 12185532,17562024,12477932,10591208 254240 NM_174932,AL021937,CH471095,AF465766,AK301685,BC062656,BC131582,CK823453,CU456409 NP_777592,CAI19585,CAI19586,EAW60022,AAM73984,BAG63157,AAI31583,Q5TI88,Q8NFQ6 Hs.372939 OTTHUMP00000064018|bactericidal/permeability-increasing protein-like 2 protein-coding 1323145 BPIL3 bactericidal/permeability-increasing protein-like 3 1580863 15790807,12477932,12185532,11780052,20237496 128859 NM_174897,AL121756,CH471077,AF465767,AY927631,BC113122 AAI40307,NP_777557,CAI22530,EAW76339,EAW76340,AAM73985,Q8NFQ5,AAI46465 Hs.375090 LPLUNC6 bactericidal/permeability-increasing protein-like 3 protein-coding 1350405 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq] 20628624,10224133,15489334,14702039,12477932 10380 NM_006085,AC103590,CH471100,AF125042,AJ249339,AK021941,AK291943,AK298476,AK300777,BC017801,BG114910,BG428446,CR599062,AK315962 NP_006076,EAW93306,EAW93307,EAW93308,AAD17329,CAB65115,BAF84632,BAG60687,BAG62441,AAH17801,O95861,BAH14333 Hs.406134 PIP 3'(2'),5'-bisphosphate nucleotidase 1|BPntase|OTTHUMP00000035565|PAP-inositol-1,4-phosphatase|bisphosphate 3'-nucleotidase 1 protein-coding 1315998 BPTF bromodomain PHD finger transcription factor This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq] 1580863 14609955,10403843,10575013,10727212,7621746,19190132,17081983,16728978,16728976,16137655,15489334,15379550,15302935,14702039,12634501,12477932,11640947,10662542,9225734,8975731,8950167,8889548,18029348,18974875,20300178 2186 NM_004459,NM_182641,AC006534,AC107377,AC134407,CH471099,AB032251,AK022081,AK022570,AK025776,AK027184,AK293224,AK296256,AK297281,AL833375,AY282495,BC037422,BC039881,BC067234,BE464864,BQ716216,BU169920,BU176205,CF135401,CV809604,U05237,BC050566 NP_004450,NP_872579,EAW89038,EAW89039,BAA89208,BAB15686,BAG56763,BAG58970,BAG59752,AAP22284,AAH50566,AAH67234,AAA97522,Q12830,Q86TN2,Q9H5E0 Hs.444200 FAC1|FALZ|NURF301 bromodomain and PHD domain transcription factor|bromodomain and PHD finger-containing transcription factor|fetal Alz-50 clone 1 protein|fetal Alz-50 reactive clone 1|fetal Alzheimer antigen|fetal alzheimer antigen|nucleosome remodeling factor, large subunit|nucleosome-remodeling factor subunit BPTF protein-coding 1352551 BPY2 basic charge, Y-linked, 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq] 1580863 17511727,15177557,14627543,12815422,12724276,12207887,9381176,20039973 9083 NM_004678,NG_004755,NG_009862,AC006366,AF000980 NP_004669,AAC51828,O14599 Hs.664724 BPY2A|BPY2B|BPY2C|VCY2|VCY2A OTTHUMP00000064811|basic protein on Y chromosome 2|testis-specific basic protein Y 2|testis-specific basic protein on Y, 2|variable charge, Y-linked, 2|variably charged protein Y 2 protein-coding 1344816 BPY2B basic charge, Y-linked, 2B This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq] 15177557,14627543,12815422,12724276,12207887,9381176 442867 NM_001002760,NG_004755,AC010153,CH471236 EAW55859,O14599,AAI40268,NP_001002760 Hs.632848 BPY2|BPY2C|VCY2|VCY2B basic charge, Y-linked 2|basic protein on Y chromosome 2|testis-specific basic protein Y 2|testis-specific basic protein on Y, 2|variable charge, Y-linked, 2|variably charged protein Y 2 protein-coding 1353479 BPY2C basic charge, Y-linked, 2C This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq] 12207887,14627543,9381176,12724276,15177557,12815422 442868 NM_001002761,NG_004755,AC016728 NP_001002761,O14599,AAI48465,AAI56665 Hs.664724 BPY2|BPY2B|VCY2|VCY2C basic charge, Y-linked 2|basic protein on Y chromosome 2|testis-specific basic protein Y 2|testis-specific basic protein on Y, 2|variable charge, Y-linked, 2|variably charged protein Y 2 protein-coding 735645 BRAF v-raf murine sarcoma viral oncogene homolog B1 This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq] 1626216,2315865,2315868,2298531,2315855,2298686,2293882,1580093,1580103,1580863,1580106 20619739,20012784,18628967,18628431,18628356,18621636,18615680,18615679,18602919,18594528,18592405,18532874,18519771,18517279,18509361,18509003,18470905,18458053,18451171,18435933,18413255,18408659,18402768,18398503,18397470,18383861,18382358,18381570,18375819,18368129,18343945,18337114,18329792,18323787,18310288,18310287,18310286,18267069,18246127,18235983,18228248,18227705,18226854,18224685,18199160,18172070,18098337,18071315,18061181,18060073,18045960,18042262,18032947,18024410,18008004,18000091,17972530,17962436,17942568,17940185,17924122,17914558,17911174,17878251,17786355,17785355,17727338,17721188,17717450,17714762,17704260,17699719,17696195,17693984,17685465,17671688,17663506,17635919,17603482,17566669,17548320,17542667,17535994,17525723,17520704,17518771,17516929,17507627,17488796,17487504,17487277,17483702,17464312,17454879,17453358,17453004,17440063,17393356,17387744,17366577,17360030,17355635,17318013,17315191,17312306,17309670,17302867,17297294,17270239,17227125,17199737,17195912,17192257,17186541,17179987,17170014,17159915,17148775,17143285,17119447,17119056,17097223,17074813,17060774,17044028,17018604,17001349,16987295,16973828,16964379,16964243,16959844,16953233,16946010,16937524,16932278,16924241,16918957,16918136,16912199,16879389,16858683,16858395,16845322,16809487,16804544,16803888,16799476,16728573,16721785,16691193,16687919,16618717,16601293,16547495,16537381,16487015,16474404,16462768,16452550,16452469,16439621,16424035,16417232,16413100,16397024,16382052,16376942,16373964,16371460,16364920,16361694,16354586,16354196,16268813,16199894,16181547,16181240,16179870,16179867,16174717,16172610,16144912,16143028,16129781,16123397,16098042,16096377,16079850,16024606,16015629,16007203,16007166,15998781,15994075,15980887,15968271,15935100,15904951,15880523,15842051,15824163,15791648,15791479,15782118,15765445,15761501,15710605,15705790,15702478,15653554,15632082,15630448,15577314,15538400,15489648,15489334,15488754,15373778,15339934,15331929,15330192,15313890,15302935,15277467,15273715,15263001,15191558,15186612,15179189,15161700,15150271,15145515,15140228,15126572,15104286,15077125,15014028,15009715,15009714,15001635,14966563,14961576,14734469,14724583,14722037,14719068,14702039,14695993,14695152,16773193,17353931,9207797,2284096,10712923,18029348,19652585,19628078,19626635,19603024,19603018,19584155,19571709,19571295,19561230,19551857,19547661,19543740,19504446,19498322,19492075,19487299,19464601,19461239,19430562,19424639,19424571,19415957,19414674,19404918,19404844,19398955,19393416,19389934,19383316,19383313,19372556,19370505,19369630,19362540,19358278,19355825,19351817,19344998,19342899,19289622,19276360,19274086,19255327,19240718,19237633,19226609,19208736,19207009,19206169,19200582,19190129,19190105,19190079,19178815,19164452,19159571,19152441,19147753,19142971,19133693,19127559,19126563,19107232,19098310,19087308,19079609,19064572,19037234,19034577,19033861,19026650,19018267,19014278,19012001,19003996,19001320,18992635,18987552,18985043,18980976,18974108,18953432,18946221,18945298,18840924,18834226,18832519,18806830,18798261,18794803,18794094,18787396,18782444,18778891,18759827,18757433,18757341,18718023,18716556,18715233,18710471,18697864,18682506,18676756,18676742,18669866,18668139,18650848,18636014,18632627,16786134,14691295,14688025,14668801,14639609,14618633,14612909,14602780,14534542,14522897,14513361,14507635,14501284,14500344,12970315,12960123,12931219,12917419,12893203,12881714,12879021,12855697,12853948,12824225,12821662,12810628,12778069,12753285,12697856,12690205,12670889,12644542,12619120,12477932,12464615,12460919,12460918,12447372,12198537,12138204,12068308,11510412,11410590,11325826,11032810,10931830,10869359,10205168,9847074,8668348,8621729,7731720,7706312,3043188,1630826,1565476,1508179,11278445,10454553,9154803,15778465,10854065,12620389,15035987,20044755,20230995,20406109,20445557,20607849,20959481,20498063,20146801,20495538,20689758,20720566,20840674,20843808,20860430,20881644,20945104,20947270,20975100,20979647,21048031,21049459,21051183,20627194,20670148,14654779,15324660,16810323,1748651,18070147,19016743,19194051,19282104,19416762,19440799,19474002,19534623,19571821,19574281,19624312,19633643,19637313,19638574,19644722,19659611,19667985,19669908,19679016,19679059,19681119,19682280,19686742,19690147,19693938,19704056,19710001,19710016,19718661,19724843,19725049,19735675,19738388,19738460,19745699,19752400,19759551,19765726,19794125,19826477,19829302,19850689,19855373,19861538,19861964,19878585,19880519,19881948,19884549,19884556,19893451,19903786,19908233,19913317,19919912,19935791,19955937,19956635,19958951,19959686,19960590,20008640,20009493,20023270,20027224,20043015,20049644,20051945,20068183,20098682,20118768,20140953,20162668,20177422,20182446,20186801,20187782,20200438,20233436,20234366,20300843,20302979,20303012,20305537,20332228,20351680,20379614,20381121,20410389,20413299,20444249,20453000,20460314,20473281,20478260,20485284,20489114,20496269,20501503,20501689,20514492,20526288,7935374,8157000,8394352,9069267,9560161,19534622,20838624,20407018,20647317,20936779,20944096,20605766,20962618,20576522,20519626,20616366,21129611,21134544,21134562,20679909,20837233,21203559,19919630,20454969,20573852,19883729,20543023,20563851,20569675,20570909,20571907,20591910,20631031,20635392,20640859,20645028,20647301,20652941,20702649,20703476,20736745,20802181,20813562 1626216,2315865,2315868,2298531,2315855,2298686,2293882,1580093,1580103,1580106 673 NM_004333,NG_007873,AC006006,AC006344,AC006347,AC079339,CH236950,CH471070,X65187,AA252358,AA834931,AI203435,AK054801,AK314346,AW971583,BC038966,BC101757,BC112079,BM263585,DB454480,DN996440,M21001,M95712,EU600171,HM437233,HC464558,HB432546 NP_004324,AAS00359,AAD43193,AAD15551,EAL24023,EAW83964,EAW83965,CAA46301,AAI01758,AAI12080,AAA96495,AAA35609,P15056,Q75MQ8,ACD11489,ADN43065,CBK51920,CAZ68014 Hs.550061 B-RAF1|BRAF1|FLJ95109|MGC126806|MGC138284|RAFB1 94 kDa B-raf protein|B-Raf proto-oncogene serine/threonine-protein kinase (p94)|murine sarcoma viral (v-raf) oncogene homolog B1|p94|proto-oncogene B-Raf|serine/threonine-protein kinase B-raf protein-coding 1346538 BRAFPS2 v-raf murine sarcoma viral oncogene homolog B1 pseudogene 2 1630826 286494 NG_003108,AC020717,X65188 BRAF2 pseudo 1348068 BRAP BRCA1 associated protein The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq] 14724641,9497340,19198608,19152073,19009954,18380995,18332145,15340083,10777491,10508479,8889548,8955125,12477932,18577512,19698717,19713974,20040518,19549727,20139978 8315 AC002996,AC137055,CH471054,AB208878,AF035620,AF035950,AK290379,AK299326,AK308279,AY332222,BC136698,BC136699,BU674276,CR623955,NM_006768 NP_006759,EAW97972,BAD92115,AAC24200,AAB88538,BAF83068,BAG61333,AAP93638,AAI36699,AAI36700,Q59H81,Q7Z569 Hs.530940 BRAP2|IMP|RNF52 BRCA1-associated protein|RING finger protein 52|galectin-2-binding protein|impedes mitogenic signal propagation|renal carcinoma antigen NY-REN-63 protein-coding 69132 BRCA1 breast cancer 1, early onset This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq] 2293150,2293156,2293014,2293154,2293190,2293149,2293151,2293153,2298941,2298942,2293155,2293152,1580863,1599502,734655,734657,734656,1599497,1578504 20077502,20104584,20579331,20852631,20378548,20608970,20608971,20608972,11733976,11720473,11710890,11708324,11698567,11691781,11668617,11668223,11602572,11584901,11573085,11562929,11556836,11550168,11535547,11505617,11504767,11498787,11493753,11481082,11477095,11474660,11466700,11462242,11462239,11448907,11448436,11437399,11433401,11426450,11410514,10720440,10655477,10542266,10500182,10486320,10477523,10441573,10426999,10417779,10417300,10403822,10373534,10369075,10334989,10323242,10220405,10196379,10196224,10026184,9927062,9926942,9811458,9789027,9788437,9774970,9764635,9760198,9738006,9689938,9662397,9625172,9609997,9585617,9553742,9528852,9497340,9482880,9482581,9267023,9244350,9207057,9159119,9150173,9115959,9063749,9010228,9008167,8972225,8968716,8955125,8942979,8938427,8910495,8889548,8872468,8840964,8807330,8776600,8764100,8755943,8723683,8700509,8644752,8644702,8634696,8589722,8589721,8554067,8533757,8116621,7939630,7894493,7894492,7894491,7795652,7550349,7545954,7481765,4506230,2270482,2001833,1676470,16983346,15650754,19176389,15184379,12951069,11526114,11504724,11278247,10635334,9342365,18804494,19074868,9443979,15242590,11877378,14499622,11689934,10764811,12955082,17525332,9582019,12706836,11016625,10608806,12925972,11493692,11244506,18197258,15034933,11746496,11394910,11521194,10518542,11353843,10959836,14986435,11573086,9525870,15572661,15965487,8944023,12214252,17349954,10918303,14654789,17525340,17643121,19261748,16326698,16288014,10910365,8895509,17525341,17525342,19261749,15265711,10550055,18809582,14976165,19649760,19649554,19648928,19644020,19642207,19638463,19623658,19619314,19617217,19616529,19609668,19606050,19597986,19584580,19584272,19573080,19564533,19553641,19549808,19548527,19543244,19536649,19536092,19514368,19499246,19491894,19491284,19489266,19484476,19482343,19454503,19445691,19440381,19415121,19405875,19393826,19390427,19383376,19383375,19383374,19383373,19383352,19381686,19377795,19374245,19374244,19372713,19372557,19370767,19370414,19369211,19366906,19366445,19364506,19361418,19351817,19338682,19336573,19329713,19307946,19298662,19289372,19287957,19287951,19277124,19268590,19261746,19258944,19258476,19246281,19244116,19241424,19237606,19232099,19226467,19223505,19215791,19214744,19205873,19200971,19200354,19190334,19190154,19188703,19188187,19176458,19168207,19165595,19164445,19147582,19146767,19140568,19139771,19124506,19120025,19117993,19116388,19098453,19094228,19087709,19083511,19082709,19079346,19073515,19073505,19067236,19064968,19064572,19061860,19035463,19035454,19031948,19029836,19018088,19016756,19012493,19012246,19010915,19010876,19002265,19001859,18997820,18992264,18990759,18980973,18971141,18957670,18955455,18953404,18950845,18950515,18940477,18936947,18936166,18930998,18855126,18844490,18842997,18835712,18830263,18819001,18813953,18812548,18807178,18798071,18794105,18783588,18782836,18779615,18779604,18776923,18763032,18762988,18759965,18758995,18752448,18717684,18717574,18711133,18710587,18703817,18703154,18695886,18694767,18679828,18679827,18676680,18663943,18662409,18647968,18645608,18627636,18625847,18594935,18593910,18588899,18577985,18567944,18559594,18559571,18559551,18558292,18546071,18543099,18538349,18528753,18523885,18521744,18513387,18512148,18509731,18501021,18497862,18489799,18483851,18481196,18465347,18463975,18462360,18452305,18451254,18445692,18439109,18434071,18431737,18431501,18429825,18415014,18413725,18413372,18405391,18402691,18400253,18397521,18391021,18377656,18375895,18375767,18355772,18342932,18340530,18334730,18312450,18296025,18288416,18286383,18285836,18285832,18284688,18283561,18279628,18278587,18269736,18259752,18258506,18257128,18256760,18242166,18241344,18230721,18228134,18215206,18208621,18205043,18204050,18200524,18197009,18182994,18182601,18176857,18175216,18175183,18172292,18172190,18171670,18165637,18165636,18162055,18159056,18158561,18158280,18155199,18098285,18097605,18095154,18095152,18094425,18094417,18092194,18090912,18087219,18083712,18080788,18077395,18074135,18071904,18071589,18060494,18060491,18045956,18043900,18042939,18036997,18034184,18030615,18030340,18026875,18000219,17999359,17997147,17996703,17990525,17987791,17986237,17972177,17972172,17968145,17952592,17942895,17932744,17925560,17924331,17922413,17922257,17922032,17921118,17917796,17916242,17902052,17873885,17851763,17850627,17803681,17767707,17766039,17764108,17761984,17722998,17719744,17697535,17694537,17688236,17686308,17685459,17683622,17680524,17673924,17664283,17661172,17661168,17646271,17645508,17640328,17636424,17636423,17636422,17635951,17634561,17627006,17626182,17625228,17625123,17624602,17621610,17616687,17616665,17612526,17603881,17599361,17592676,17591844,17591843,17591842,17585057,17582599,17561994,17557253,17545591,17541742,17531442,17520345,17505559,17505536,17505062,17497966,17496925,17493881,17492376,17484040,17471561,17470134,17453335,17452776,17445839,17434164,17428466,17428325,17428320,17426707,17420720,17420471,17416853,17413421,17409195,17406974,17405295,17404506,17397054,17392432,17384678,17380889,17374731,17373631,17341484,17334399,17333477,17333343,17333342,17333338,17333336,17324252,17321670,17319787,17308087,17307836,17307805,17301259,17289874,17288454,17285126,17278098,17262179,17257844,17253935,17250666,17244477,17233897,17229870,17221156,17220212,17219973,17217814,17210933,17196508,17185394,17180310,17161371,17160431,17151928,17148771,17145961,17145825,17145824,17140287,17119064,17106239,17100994,17081983,17080309,17078101,17063270,17063265,17063264,17061047,17051349,17047656,17039264,17021353,17020472,17018160,17010055,17004108,17000754,16998791,16998500,16998499,16998498,16998496,16996204,16979166,16969499,16949048,16945238,16944270,16944269,16941470,16940470,16940443,16931905,16914727,16912212,16912201,16905680,16860316,16847550,16843262,16843109,16837909,16830385,16826315,16818604,16807675,16807234,16792513,16783967,16782705,16773440,16772120,16769276,16760289,16760288,16738949,16738325,16737811,16735508,16728435,16724273,16724249,16724247,16718381,16713569,16698035,16677609,16648044,16644204,16638864,16622123,16619214,16567799,16563180,16563154,16543242,16543155,16541324,16541315,16537453,16533773,16515589,16509964,16484695,16479151,16477874,16462151,16456781,16455195,16452482,16450717,16446310,16417649,16389418,16369438,16331614,16331276,16324400,16284991,16283620,16271956,16261409,16261400,16260778,16240122,16234515,16229810,16229746,16222692,16217032,16185777,16176503,16172191,16170371,16169426,16168130,16168118,16166645,16161633,16140006,16137751,16123590,16118051,16109739,16103751,16103107,16099593,16088935,16084122,16049805,16047333,16032702,16030099,16026807,15996267,15994883,15990270,15986445,15983032,15983021,15980987,15978801,15970701,15967981,15951957,15951956,15936476,15930334,15923272,15917310,15905410,15900600,15894690,15887246,15886201,15880530,15876585,15872055,15863145,15846789,15831101,15811849,15803127,15803125,15800311,15796958,15785095,15784178,15777502,15743496,15735739,15735702,15734957,15733268,15728167,15726604,15723343,15712267,15691805,15674350,15665273,15617999,15609132,15598764,15591272,15591126,15589605,15576832,15571962,15571721,15569676,15564800,15559734,15557806,15545966,15520196,15519522,15485898,15477862,15456891,15448696,15447980,15383404,15368961,15367553,15365993,15350310,15345110,15345109,15331870,15319244,15300854,15285306,15284715,15283579,15282296,15280342,15280188,15265971,15256476,15254237,15242757,15236312,15220350,15217508,15208681,15205325,15199145,15173085,15170666,15168169,15166217,15159397,15159322,15159312,15144764,15140371,15140370,15138485,15138483,15133503,15133502,15131403,15131401,15131400,15131025,15125843,15122325,15117986,15116316,15114373,15113441,15107825,15104281,15096610,15095307,15087457,15086724,15084244,15083174,15082902,15073127,15067026,15066328,15065664,15059511,15053073,15053071,15041722,15026808,15009718,14990569,14984481,14973102,14769635,14761918,14760071,14758382,14755459,14746861,14735581,14735173,14732925,14729053,14722926,14710355,14709740,14709734,14701743,14680495,14678969,14673037,14668548,14662532,14660588,14654792,14648706,14647443,14647430,14647419,14644329,14638690,14636569,14615451,14613551,14612409,14586320,11403219,11377596,11352725,11320250,11313879,11301010,11278964,11263938,11257228,11248423,11248061,11239454,11221880,11207040,11192759,11183185,11181654,11180585,11180449,11170903,11163768,11149425,11130383,11114888,11097234,14581427,14580256,14580253,14578343,14576434,14576433,14576432,14574155,14572939,14572152,14559807,14555511,14551306,14550570,14534301,14522380,14519755,14517958,14516936,14507240,14506230,14502648,13679996,12967657,12955716,12946038,12938098,12937835,12928470,12920090,12918074,12917330,12911837,12911720,12909625,12890739,12890688,12887909,12883740,12879478,12872263,12865453,12845657,12838555,12833555,12827452,11090615,11085509,11073541,11063672,11044354,11039575,11016951,10991937,10972993,10945975,10943845,10905363,10866324,10855792,10851248,10827109,10792030,10788334,10783165,10725406,10724175,12815604,12815598,12810625,12798717,12779088,12779087,12774040,12773400,12768436,12767038,12750242,12748281,12732733,12712470,12704636,12704633,12700228,12700125,12698198,12698194,12698193,12696073,12691152,12682913,12677558,12672886,12668603,12655560,12647291,12646176,12644778,12644538,12640109,12637547,12612062,12611903,12611452,12607598,12607005,12602912,12592385,12582017,12576338,12568865,12567413,12552965,12548593,12543786,12531920,12527903,12509456,12505256,12504628,12497638,12496478,12496477,12496476,12496474,12496047,12491828,12490973,12485996,12485194,12484126,12481264,12477932,12476445,12474142,12473589,12470990,12464649,12464350,12459499,12457999,12453858,12442275,12442274,12442273,12440810,12438698,12438214,12433008,12431996,12431973,12427738,12427729,12419249,12419185,12404104,12402341,12402332,12400015,12389335,12376518,12376208,12364621,12362976,12362311,12360400,12354784,12353262,12242698,12239151,1223789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2293150,2293156,2293014,2293154,2293190,2293149,2293151,2293153,2298941,2298942,2293155,2293152,1599502,734655,734657,734656,1599497,1578504 672 AY273801,AY304547,AY706911,AY706912,CH471152,DQ116737,DQ145822,DQ145823,DQ145825,DQ145826,DQ190450,DQ190451,DQ190452,DQ190453,DQ190454,DQ190455,DQ190456,DQ190457,DQ299305,DQ299306,DQ299307,DQ299308,DQ299309,DQ299310,DQ299311,DQ299312,DQ299313,DQ299314,DQ299315,DQ299316,DQ299317,DQ299318,AY144588,DQ299319,DQ299321,DQ299322,DQ299323,DQ299324,DQ299325,DQ299326,DQ299327,DQ299328,DQ299329,DQ299330,DQ299331,DQ478408,L78833,U15595,U37574,U61268,Y08757,AF005068,AF274503,AK293762,AK307553,AK308084,AK316200,AL701927,AY354539,AY751490,BC012577,BC030969,BC038947,BC046142,BC062429,BC072418,BC085615,BC106745,BC106746,BC114511,BC114562,BC115037,BU617173,BU679389,DQ333386,DQ333387,DQ363751,U14680,U64805,U68041,Y08864,NM_007298,NM_007300,NM_007299,NM_007294,NG_005905,NR_027676,AC135721,AF284812,AF507076,AF507078,AY093484,AY093485,AY093486,AY093487,AY093489,AY093490,AY093492,AY093493,NM_007297 AAM18226,ABB87066,AAN10167,AAP12647,AAP70031,AAU21563,AAU21564,EAW60922,EAW60923,EAW60924,EAW60925,EAW60926,EAW60927,EAW60928,EAW60929,EAW60930,EAW60931,EAW60932,EAW60933,EAW60934,EAW60935,EAW60936,EAW60937,EAW60938,EAW60939,EAW60940,EAW60941,EAW60942,AAZ16492,AAZ79406,AAZ79407,AAZ79409,AAZ79410,ABA29208,ABA29211,ABA29214,ABA29217,ABA29220,ABA29223,ABA29226,ABA29229,ABB87053,ABB87054,ABB87055,ABB87056,ABB87057,ABB87058,ABB87059,ABB87060,ABB87061,ABB87062,ABB87063,ABB87064,ABB87065,ABB87067,ABB87069,ABB87070,ABB87071,ABB87072,ABB87073,ABB87074,ABB87075,ABB87076,ABB87077,ABB87078,ABB87079,ABF14462,AAC37594,AAC50330,AAB40910,CAA70003,AAB61673,BAG57181,BAH14571,AAQ92977,AAU93634,AAH30969,AAH62429,AAH72418,AAH85615,AAI06746,AAI06747,AAI15038,ABC59810,ABC59811,ABC88652,AAA73985,AAC00049,AAB08105,P38398,Q05BZ9,Q1RMC1,Q3B890,Q3B891,Q3LRH8,Q3LRJ6,Q3YB49,Q3YB50,Q3YB52,Q3YB53,Q4EW25,Q5U3B7,Q5XLT4,Q5YLB2,Q64FK2,Q64FK3,Q6IN79,Q6P671,Q7KYU6,Q7Z606,Q8IU58,Q8IZK2,Q8IZK4,Q92897,Q9NQR3,Q9UE29,NP_009228,NP_009229,NP_009231,NP_009230,NP_009225,AAF97939,AAN61423,AAN61425,AAM18218,AAM18219,AAM18220,AAM18221,AAM18222,AAM18223,AAM18225 Hs.194143 BRCAI|BRCC1|BROVCA1|IRIS|PNCA4|PSCP|RNF53 BRCA1/BRCA2-containing complex, subunit 1|OTTHUMP00000212147|OTTHUMP00000212148|OTTHUMP00000212149|OTTHUMP00000212150|OTTHUMP00000212151|OTTHUMP00000212155|RING finger protein 53|breast and ovarian cancer susceptibility protein 1|breast and ovarian cancer sususceptibility protein|breast cancer 1|breast cancer type 1 susceptibility protein 2292917,2292991,2292992,2303079 PRSTS128_H,PRSTS133_H,PRSTS123_H,MAMTS45_H protein-coding 1606082 BRCA1P1 BRCA1 pseudogene 1 11880951,11179671,10205276,8954804,8700509,19067158 394269 NG_003183,AC060780,U77841 LBRCA1|PsiBRCA1|pseudo-BRCA1 pseudo 736254 BRCA2 breast cancer 2, early onset Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq] 2289049,2289050,2289042,2289044,2289045,2289046,2289048,2289043,2296027,1580863,1599503,734658,1599505 20473725,20570322,20722102,20130978,17286961,9824164,9774970,10373512,11597317,12242698,15930293,15967112,16099937,16275750,17515903,9619837,16845393,8895509,16434996,12606939,9560268,8589722,19649760,19649554,19644020,19642207,19626602,19619314,19617217,19616529,19609668,19606050,19597986,19584580,19584272,19584075,19573080,19564533,19553641,19549900,19549808,19548527,19543244,19536092,19499246,19491894,19491284,19478387,19473207,19383376,16484695,16456781,16455195,16450717,16419081,16418514,16417627,16389418,16369438,16331614,16324400,16284991,16280055,16271956,16261408,16261400,16257105,16234515,16214912,16199546,16176503,16168130,16168123,16168118,16140006,16137751,16118051,16088935,16049805,16047333,16042582,16032702,16030099,16029503,16003728,15996267,15994883,15986445,15983021,15978801,15937124,15936476,15930334,15917310,15900600,15894703,15887246,15880530,15863145,15806175,15805113,15800615,15800311,15734957,15734731,15733268,15728167,15726604,15721786,15671039,15670748,15635067,15617999,15589605,15576832,15571962,15564800,15559734,15548363,15545966,15519522,15375219,15367553,15365993,15345109,15331870,15319244,15317758,15314155,15284715,15280342,15280188,15265971,15254695,15236312,15217508,15199141,15170666,15168169,15159322,15144764,15140371,15140370,15138485,15138483,15131403,15131400,15131399,15131025,15117986,15116316,15115758,15114373,15104281,15095307,15086724,15084244,15083174,15082902,15073127,15070707,15067026,15059511,15057823,15053073,15053071,15041722,15026808,15015609,14984481,14973102,14769635,14761918,14755459,14752193,14746861,14735581,14735173,14732925,14722926,16485136,12442274,12442273,12442171,12440810,12433008,12431973,12404104,12385017,12376518,12376208,12373604,12237897,12237285,12229876,12229875,12228710,12220452,12215251,12210341,12181777,12165866,12145750,12125210,12114473,12112655,12101561,12100744,12088120,12070551,12065746,12039933,12036913,12023992,12020440,11983207,11981002,11977534,11972384,11964925,11953874,11950811,11948477,11927503,11920621,11920551,11897832,11896095,11890937,11883440,11879560,11873550,11870509,11870168,11857749,11857748,11857383,11857015,11844822,11822793,11807889,11807777,11802209,11802208,11793480,11788883,11786581,11786575,11754111,11710890,11698567,11668223,11602572,11584901,11562929,11556836,11550168,11535547,11505617,11504767,11493753,11481082,11477095,11474660,11466700,11448436,11437399,11433401,11426450,11410514,11403219,11377596,11343905,11313963,11263938,11248061,11239453,11221880,11207365,11207041,11207040,11192759,11181654,11180449,11170288,11158174,11149425,11139248,11130383,11097234,11073541,11063672,11062481,11044354,11039575,10807692,10749118,10570174,10486320,10323242,9971877,9811893,9654203,9609997,9150155,9150152,9126738,8917547,8841191,8673091,8673090,8665505,12442275,8640236,8640235,8589730,8524414,8091231,7597059,7581463,1072445,18263878,15065660,14580352,9523196,9405383,17525332,12032298,14499622,14647413,12915460,10608806,19009954,18990759,18990703,18955455,18950845,18940471,18936947,18855126,18844490,18842997,18841560,18830263,18819001,18807178,18797466,18794105,18783588,18779615,18779604,18776644,18765668,18758995,18752448,18717684,18710587,18703817,18694767,18679827,18676680,18663943,18645608,18632222,18627636,18618591,18597679,18593900,18579371,18577985,18559594,18559571,18553220,18543099,18528753,18523885,18513387,18509731,18501021,18497862,18489799,18483851,18481196,18465347,18463975,18451254,18451181,18445692,18439109,18439106,18439040,18437078,18434071,18431743,14709740,14709734,14680495,14678969,14673037,14670928,14668548,14662532,14660434,14651845,14648706,14647438,14647419,14647210,14636569,14615451,14586320,14581427,14580256,14580253,14576434,14574155,14572939,14555518,14555511,14519755,14517958,14507240,12967657,12946038,12942367,12938098,12937835,12927042,12920090,12917199,12911837,12911720,12883740,12879478,12865453,12845657,12833555,12815053,12798717,12779088,12774040,12771943,12756300,12712470,12704633,12698193,12691152,12684407,12677558,12673354,12672886,12670525,12655567,12655560,12644778,12644538,12619154,12618335,12611452,12569143,12568865,12567413,12556369,12552570,12543786,12527904,12504628,12496047,12491828,12485194,12484126,12477932,12476445,12474142,12473589,12471628,12470990,12464649,12461697,12459499,12457999,12453858,8640237,18431737,18431501,18429825,18413372,18402691,18393245,18380995,18377429,18375895,18363094,18355772,18342932,18327210,18317453,18312450,18307534,18288416,18286383,18285832,18284688,18283561,18279628,18270339,18258506,18257128,18256760,18214034,18212739,18204050,18200524,18182994,18182601,18178637,18176857,18175216,18175183,18172292,18172190,18167127,18165636,18158280,18098285,18097605,18095987,18095154,18092194,18086758,18060494,18059333,18045956,18043900,18042939,18036394,18034184,18026875,18024013,17999359,17997147,17977515,17972177,17972172,17968145,17952592,17945002,17940634,17925560,17924331,17922257,17917796,17899372,17898070,17851763,17850627,17767707,17761984,17724471,17700570,17688236,17686574,17686308,17683622,17673924,17664283,17661168,17657584,17645508,17640379,17636424,17636423,17636422,17635951,17634561,17627006,17625228,17625123,17624602,17603881,17603793,17592676,17591843,17591842,17582599,17565157,17549625,17549502,17541404,17515904,17503080,17497966,17471561,17470134,17453335,17445839,17428325,17428320,17426707,17416853,17413421,17409195,17397054,17386038,17380889,17341484,17333477,17333343,17333342,17333338,17324252,17307836,17301269,17289875,17289874,17285126,17262179,17257844,17250666,17217814,17216544,17210933,17196508,17160431,17151928,17148771,17145825,17145824,17119064,17113724,17101782,17100994,17080309,17063270,17063265,17061047,17021353,17020472,17018785,17018160,17010055,17000754,16998791,16998498,16998496,16956909,16950820,16949048,16944270,16931905,16914443,16912212,16905680,16886281,16860930,16847550,16843109,16826315,16825431,16793542,16792514,16792513,16783967,16769276,16768547,16764716,16760289,16754685,16741161,16731627,16728435,16724273,16724247,16701105,16648044,16644204,16638864,16622123,16621732,16619214,16574953,16563180,16541324,16539696,16537453,10551859,15800651,17148452,17474147,18563556,18574689,18642075,18712473,19011960,19012002,19170196,20507642,19189213,19267246,19340607,19353265,19454451,19530235,19540122,19578754,19584259,19609323,19620486,19625176,19628690,19654294,19656163,19656164,19656415,19656774,19661089,19661094,19669600,19690177,19692168,19704162,19707196,19709076,19715467,19737859,19745749,19748364,19752737,19773279,19780858,19787003,19789190,19798417,19802015,19805903,19818997,19841329,19843326,19858402,19861517,19863560,19875889,19876733,19877382,19877752,19885732,19898224,19899408,19902366,19903338,19920816,19921428,19941167,19949853,19956635,19996028,19996031,20010525,20020529,20033769,20043088,20107607,20134318,20151938,20174566,20180971,20199546,20202217,20204502,20206018,20215531,20215541,20219108,20221693,20234365,20306497,20309627,20337906,20353281,20361264,20368571,20376556,20378615,20380699,20411323,20418484,20421506,20422428,20443055,20452659,20453000,20459916,20472656,20482762,20496165,20513533,20522537,20535403,20537530,20541936,20549370,20713847,20729832,20877358,20434624,18029348,18769160,20195775,20383589,20455026,20731661,20813000,20842456,20850175,20859677,20924075,20927582,20950396,20965088,20978178,21060860,21069710,21077165,21079137,19851859,20077502,20104584,20579331,19795125,21123638,19383375,19383374,19383373,19377795,19372713,19370414,19369211,19351817,19338682,19329713,19307946,19303847,19298662,19277124,19268590,19258944,19258476,19253839,19241424,19237606,19232099,19229607,19226467,19214744,19200971,19200354,19190154,19188187,19179552,19176389,19165595,19139771,19125001,19124506,19116388,19087709,19083511,19082709,19070627,19066131,19064968,19064572,19035463,19030985,19016756,19012493,19011769,19010876,20733129,19288190,19649703,20033483,20356927,20135344,20135345,20232139,20721735,20721742,20721747,20721749,20683152,20729858,20729859,20871615,18604178,20411314,20872766,20919953,21156238,9126734,20216074,20396944,20513136,20804917,19714462,19913121,20059483,20406939,20587610,20589654,20606085,20609467,20609468,20610542,20614180,20625126,20625817,20628086,20638925,20644561,20652397,20652400,20665887,20676756,20677014,20736950,20798986,20809262,20809358 2289049,2289050,2289042,2289044,2289045,2289046,2289048,2289043,2296027,1599503,734658,1599505 675 NG_012772,AF309413,AF348515,AF489725,AF489726,AF489727,AF489728,AF489729,AF489730,AF489731,AF489732,NM_000059,AF507087,AF507086,AF507088,AF507089,AF507090,AL137247,AL445212,AY008850,AY008851,AY151039,AY436640,CH471075,X95152,Z73359,Z74739,BC026160,BC047568,DQ897648,U43746,AF489733,AF489734,AF489735,AF489736,AF489737,AF489738,AF507079,AF507080,AF507081,AF507082,AF507083,AF507084,AF507085 NP_000050,AAG46030,AAK29432,AAN61409,AAN61410,AAN61411,AAN61412,AAN61413,AAN61414,AAN61415,AAN61416,AAN61433,AAN61432,AAN61434,AAN61435,AAN61436,AAN61437,CAI13195,CAI40479,AAG32681,AAG32682,AAN28944,AAQ97181,EAX08499,EAX08500,EAX08501,CAA64484,CAA97728,CAA98995,ABI74674,AAB07223,P51587,Q8IU64,Q8IU77,Q8IU82,Q9BX99,Q9H265,Q9H4L2,Q9H4L3,AAN61417,AAN61418,AAN61419,AAN61420,AAN61421,AAN61422,AAN61426,AAN61427,AAN61428,AAN61429,AAN61430,AAN61431,ACX32322 Hs.34012 BRCC2|BROVCA2|FACD|FAD|FAD1|FANCB|FANCD|FANCD1|GLM3|PNCA2 BRCA1/BRCA2-containing complex, subunit 2|breast and ovarian cancer susceptibility gene, early onset|breast cancer 2|breast cancer 2 tumor suppressor|breast cancer susceptibility protein BRCA2|breast cancer type 2 susceptibility protein|fanconi anemia group D1 protein 2303074 MAMTS46_H protein-coding 1352713 BRCA3 breast cancer 3 10944226,11792833 60500 1344323 BRCC3 BRCA1/BRCA2-containing complex, subunit 3 This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This protein is also thought to be involved in the cellular response to ionizing radiation and progression through the G2/M checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 14636569,17525341,19202061,19214193,19261746,19261749,19261748,18077395,17143545,16381901,16189514,15489336,15489334,14737182,12477932,11076863,20656690,1303175,17353931,8247530,19615732 79184 NM_024332,NM_001018055,NG_005114,BX293995,BX470111,CH471172,AK298886,AK299194,AK310286,AK313544,AY438030,BC002999,BC006540,BU902387,CR615605,S68015,X64643 NP_077308,NP_001018065,CAH70537,CAH70538,CAI41654,CAI41655,CAO03573,CAO03574,CAO03575,CAO03576,EAW72632,EAW72633,EAW72634,EAW72635,EAW72636,EAW72637,BAG60999,BAG61237,BAG36320,AAR30498,AAH02999,AAH06540,AAB29005,CAA45917,P46736,CAL37707 Hs.558537 BRCC36|C6.1A|CXorf53|RP11-143H17.2 BRCA1-A complex subunit BRCC36|BRCA1/BRCA2-containing complex subunit 36|BRISC complex subunit BRCC36|OTTHUMP00000024245|OTTHUMP00000196187|OTTHUMP00000196188|c6.1A|lys-63-specific deubiquitinase BRCC36 protein-coding 1604470 BRCTD1 BRCT domain containing 1 11230166,15632077,12477932 345499 AL050298,BC054885,BC070332,BC107571 CAB43397,AAH54885,AAH70332,AAI07572,Q3B7K4,Q6NSA5,Q6PHW9,Q9Y402 Hs.657315 BRCTx|DKFZp564C0469 protein-coding 1323531 BRD1 bromodomain containing 1 This gene encodes a protein of unknown function. The protein contains a bromodomain, a sequence motif often found in transcriptional coactivators, and localizes to the nucleus in testis and several other cell types. [provided by RefSeq] 1580863 16407974,16169070,10602503,17081983,15461802,12477932,10591208,1350857,16387653,16484223,18029348,19693800,19763615,19908236,20379614 23774 NM_014577,CH471138,Z98885,AB209216,AF005067,AK292428,AK302736,AK302845,AK304330,AK304776,AL049402,AL080149,BC030007,BC047508,CR456408,CR610367,CR936643 NP_055392,EAW73473,EAW73474,EAW73475,EAW73476,EAW73477,CAB11574,BAD92453,AAF34320,BAF85117,BAG63953,BAG64034,BAH14162,BAG65531,CAH56423,CAB45742,AAH30007,AAH47508,CAG30294,O95696,Q59G93,Q5CZ83,Q659H0,Q86X06,Q9Y4Q3,CAI56783,CAK54399,CAK54698,CAO72061 Hs.127950 BRL|BRPF1|BRPF2|DKFZp686F0325 BR140-like protein|OTTHUMP00000196965|OTTHUMP00000196967|OTTHUMP00000196968|bromodomain and PHD finger-containing protein 2|bromodomain-containing protein 1 protein-coding 1350574 BRD2 bromodomain containing 2 This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863,1358444 17166848,9693039,18406326,17999746,17848202,17148447,17111193,17081983,16940503,16786191,16516380,16512664,16344560,15548137,15489334,15342556,15302935,14731392,14702039,14574404,14563639,12830434,12600283,12477932,12366783,12145330,11983150,11502199,10965846,10934046,9373153,8781126,8595877,1663500,1352711,1350857,15949438,15146197,20709061,20587610,19204726,19851445,19953286,20036832,20048151 1358444 6046 BC063840,NM_005104,NM_001113182,AF107699,AL645941,AL662845,AL805913,AL935042,BX005422,CH471081,CR759829,X96670,Z84497,Z96104,AI983495,AK056504,AL832722,BC000477,BC001885,BC007715,BP271262,BX647233,BX648109,CR620442,D42040,DA127395,DA505721,DC379337,H11588,M80613,S78771,X62083,CN398334,NM_001199455,NM_001199456,NR_037625,BX664702,BX908719,CR759798,CR936909 NP_005095,NP_001106653,AAD24963,CAI18110,CAI17492,CAI18548,CAI18689,CAM26115,CAM26116,EAX03662,EAX03663,EAX03664,EAX03665,EAX03666,CAP58468,CAP58469,CAA65450,CAC69989,CAH56208,AAH63840,CAH56179,CAH56171,BAA07641,AAA68890,CAA43996,P25440,Q63HQ9,Q658Y7,Q9UNM9,NP_001186384,NP_001186385 Hs.75243 D6S113E|DKFZp686N0336|FLJ31942|FSH|FSRG1|KIAA9001|NAT|RING3|RNF3 O27.1.1|OTTHUMP00000178758|bromodomain-containing 2|bromodomain-containing protein 2|female sterile homeotic-related gene 1|really interesting new gene 3 protein protein-coding 1318974 BRD3 bromodomain containing 3 This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq] 1580863 18406326,17934517,17081983,16008511,15489334,15302935,15164053,12600283,12477932,12371535,9373153,9110174,8781126,8619474,7584044 8019 NM_007371,AC000391,AC002105,AC002323,AL445931,AL591386,CH471090,Z81330,AA766480,AF052138,AK026880,AK123322,AK299519,AW409970,AY513270,BC010699,BC030095,BC032124,BI545861,CR592591,CR610707,CR625329,D26362,DW413353 NP_031397,CAI13726,CAI13727,CAP58862,CAP58863,EAW88113,EAW88114,EAW88115,BAG61471,AAS82952,AAH32124,BAA05393,Q15059 Hs.522472,Hs.654869 FLJ23227|FLJ41328|KIAA0043|ORFX|RING3L OTTHUMP00000022725|RING3-like protein|bromodomain-containing 3|bromodomain-containing protein 3 protein-coding 1316385 BRD4 bromodomain containing 4 The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 12840145,16109376,16169070,16980611,17643375,18029348,19553317,19596781,19846528,20036832,20201073,19336002,17474147,18305892,19211738,19129460,19103749,19038968,18971272,18500820,18039861,17934517,17690245,17686863,17626100,17189190,17081983,17023018,16940503,16921027,16611886,15994877,15795266,15456879,15302935,15231748,15109495,15057824,12543779,12477932,12192049,11733348,10938129,17189189,20676058 23476 CH471106,NM_058243,NM_014299,AC003111,AC004798,AF386649,AK307664,BC000156,BC008354,BC030158,BC035266,BC038988,BC047888,BC067129,BC091649,Y12059 NP_490597,NP_055114,AAC27978,EAW84469,EAW84470,EAW84471,EAW84472,EAW84473,AAL26987,AAH00156,AAH08354,AAH30158,AAH35266,AAH38988,AAH47888,AAH67129,AAH91649,CAA72780,O60885,Q05BM2,Q4G0X8,Q5BJ26,Q6NXE4,Q6PIS5,Q96HN0 Hs.187763 CAP|HUNK1|HUNKI|MCAP bromodomain-containing 4|bromodomain-containing protein 4|chromosome-associated protein protein-coding 1320478 BRD7 bromodomain containing 7 19279220,16344560,18329849,19909775,20215511,20228809,12489984,11025449,10526152,19111069,18809673,18778484,18772500,17081983,16792505,16786191,16475162,16265664,15489334,15137061,14702039,12918109,12766061,12600283,12477932,16169070,12941796,15383276,20660729 29117 NM_013263,AC007493,AC007597,AC023826,CH471092,AF152604,AF213969,AJ271881,AK027308,AK074613,BC001611,NG_023418,AW615116,DA645362,NM_001173984,BC050728,BC094706,CD677718,CR593793 NP_037395,EAW82756,EAW82757,EAW82758,EAW82759,AAF75126,AAF19526,CAB72445,BAB55031,BAC11089,AAH01611,NP_001167455,AAH50728,AAH94706,Q9NPI1 Hs.437894 BP75|CELTIX1|NAG4 75 kDa bromodomain protein|bromodomain protein|bromodomain-containing 7|bromodomain-containing protein 7|protein CELTIX-1 protein-coding 1343686 BRD7P bromodomain containing 7 pseudogene 256109 NG_002469,AL160237 BRD7P pseudo 1626549 BRD7P2 bromodomain containing 7 pseudogene 2 647076 NG_009641,AC026118 pseudo 1626540 BRD7P3 bromodomain containing 7 pseudogene 3 12477932,10526152,21076409 23629 NR_002730,AF167351,BC033937 AAD46658 Hs.648050 BP75|MGC42164 pseudo 3207434 BRD7P4 bromodomain containing 7 pseudogene 4 100287229 AL512325,NG_016163 pseudo 3322052 BRD7P5 bromodomain containing 7 pseudogene 5 100129259 AL137061,NG_009642 pseudo 2801633 BRD7P6 bromodomain containing 7 pseudogene 6 100128042 AC022201,NG_016161 pseudo 1315939 BRD8 bromodomain containing 8 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Three alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq] 15070733,16387653,19787264,20051959,9368056,8611617,14966270,18029348,17081983,16964243,16571680,15647280,15489334,15302935,15196461,12963728,12477932,11230166,11161817,10517671,9373149,8125298,15949438,20308539 10902 X94234,NM_006696,NM_001164326,AC109442,AC113382,CH471062,AB209079,AF016270,AK225928,AK289951,AK293621,AK297608,AK297756,AK310380,AK312333,AL136823,AL704983,BC008039,BC008076,BU187982,CR595657,X87613,NM_139199 CAA63925,Q9H0E9,NP_631938,NP_006687,NP_001157798,EAW62159,EAW62160,EAW62161,EAW62162,BAD92316,AAB87858,BAF82640,BAG57080,BAG59991,BAG60105,BAG35254,CAB66757,AAH08039,AAH08076,CAA60949 Hs.519337 SMAP|SMAP2|p120 OTTHUMP00000197554|OTTHUMP00000197555|OTTHUMP00000197556|OTTHUMP00000197557|bromodomain-containing protein 8|skeletal muscle abundant protein 2|thyroid hormone receptor coactivating protein of 120 kDa|trCP120 protein-coding 1316511 BRD9 bromodomain containing 9 737633 15489334,14702039,12975309,12601173,12477932,19279220,18559093,20379614 737633 65980 NM_001009877,NR_027633,AC122719,CH471102,AK023503,AK024392,AK026830,AK125518,AK297573,AK299157,AK301987,AL833925,AW151055,AY211916,AY358630,BC007217,BC041590,BX648703,DQ248311,NM_023924 ABZ92051,NP_076413,NP_001009877,EAX08187,EAX08188,EAX08189,EAX08190,EAX08191,EAX08192,EAX08193,BAB14591,BAB14907,BAB15565,BAG59964,BAG61205,BAG63394,CAD38781,AAO65169,AAQ88993,AAH41590,ABB55266,Q86WF2,Q8NDF4,Q9H8M2 Hs.449278 DKFZp434D0711|DKFZp686L0539|FLJ43530|LAVS3040|PRO9856 OTTHUMP00000214520|OTTHUMP00000214523|bromodomain-containing protein 9|rhabdomyosarcoma antigen MU-RMS-40.8|sarcoma antigen NY-SAR-29 protein-coding 1315431 BRDT bromodomain, testis-specific BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 20538714,9367677,10365964,15647849,15489334,12861021,12477932,11076863,10704737,18029348,20378615,20379614 676 NM_207189,NM_001726,AC114486,CH471097,AF019085,AK302758,AK303008,AK316442,AY338951,BC005281,BC017582,BC028126,BC038844,BC047900,BC062700,BG717291,BX648135,DC401352 NP_997072,NP_001717,EAW73106,EAW73107,EAW73108,EAW73109,EAW73110,EAW73111,AAB87862,BAH13797,BAH13876,BAH14813,AAQ16198,AAH05281,AAH17582,AAH47900,AAH62700,Q05DQ4,Q58F21,AAI11928,AAI18499 Hs.482520 BRD6|CT9 OTTHUMP00000011809|OTTHUMP00000011810|OTTHUMP00000197577|RING3-like protein|bromodomain testis-specific protein|cancer/testis antigen 9 protein-coding 1343026 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 1580863 19615732,19757177,20035718,20379614,11676476,19261749,14636569,15465831,19261748,9737713,17525341,19261746,19214193,18756325,17704801,16713569,16189514,15582573,15489334,14702039,12477932,11259452,17353931,7826398,18029348,20861917 9577 AF420603,AF420604,AF420605,AK000097,AK098345,AK123076,AK291086,AL566299,AY438031,BC001251,BG422104,BG422293,BI559404,BU172408,CR594132,CR606988,L38616,NM_199194,NM_199192,NM_004899,NM_199191,AC021171,AC093690,AC096552,AC104695,CH471053,AF015767,AF420602,NM_199193 AAL17816,AAL17817,AAL17818,BAA90943,BAC85532,BAF83775,AAR30499,AAH01251,AAA64231,Q6ZWH1,Q9NXR7,ABM82190,ABM85377,NP_954663,NP_954664,NP_954662,NP_004890,NP_954661,AAY24156,AAX88935,EAX00542,EAX00543,EAX00544,EAX00545,EAX00546,EAX00547,EAX00548,AAB69387,AAL17814 Hs.258314 BRCC4|BRCC45 BRCA1-A complex subunit BRE|BRCA1/BRCA2-containing complex subunit 45|BRCA1/BRCA2-containing complex, subunit 4|OTTHUMP00000123506|OTTHUMP00000123508|brain and reproductive organ-expressed protein protein-coding 2292094 BREA2 breast cancer estrogen-induced apoptosis 2 12477932 286076 NR_015445,AC105219,CH471162,AL833948,AY940073,BC132838,BC132840 EAW82209,CAD38802,Q8NDL7 Hs.178095 miscrna 1322467 BRF1 BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Two alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. Other transcript variants are possible, but their full-length natures have not been completely characterized. [provided by RefSeq] 1580863 20211142,21044367,8943358,7624363,18700021,18326031,17968325,17877750,17499043,17369404,17081983,16982688,16713569,15538381,15489334,14702039,12711686,12477932,12198173,12066800,12016223,11997511,10921893,10523658,10373544,10330166,9171375,9169441,8943363,20154270 2972 NM_145685,NM_001519,AL512355,CH471061,AJ297406,AJ297407,AJ297408,AK096471,AK124665,AK125024,AK294899,AK295579,AL540823,BC016743,BC071637,BC086856,BC103859,BC103860,BC103861,BC133655,CR607892,U28838,U75276 NP_663718,NP_001510,EAW81906,EAW81907,EAW81908,EAW81909,EAW81910,EAW81911,EAW81912,CAC04512,CAC04513,CAC04514,BAG53298,BAG54064,BAC86024,BAH11919,BAG58477,AAH16743,AAH71637,AAH86856,AAI03860,AAI03861,AAI03862,AAI33656,AAC50170,AAB38876,Q3SYD7,Q3SYD8,Q6ZV39,Q92994,Q96KX3 Hs.424484 BRF|FLJ42674|FLJ43034|GTF3B|MGC105048|TAF3B2|TAF3C|TAFIII90|TF3B90|TFIIIB90|hBRF B - related factor 1|B-related factor 1|BRF-1|TATA box binding protein (TBP)-associated factor 3C|TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2|TATA box binding protein (TBP)-associated factor, RNA polymerase III, subunit 2|TATA box-binding protein-associated factor, RNA polymerase III, subunit 2|TBP - associated factor, RNA polymerase III, 90kD|general transcription factor IIIB, 90kD subunit|hTFIIIB90|transcription factor IIIB 90 kDa subunit protein-coding 1318806 BRF2 BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. 1580863 16344560,17353931,16227591,14702039,12621023,12477932,11564744,11483580,11121026,11040218,10330166,18700021,20668658 55290 NM_018310,AC130304,AC138356,CH471080,AF130058,AF206673,AF298153,AK001914,AK315420,BC010648,CR591369,CR602291,CR604537,CR607467,CR613791,CR614939,CR616155,AA496239,DA688249,AK294337 NP_060780,EAW63351,EAW63352,EAW63353,AAG35486,AAG35669,AAG30222,BAA91975,BAG37809,AAH10648,Q9HAW0,ABZ92043,BAG57607 Hs.726335 BRFU|FLJ11052|TFIIIB50 B-related factor 2|BRF-2|RNA polymerase III transcription initiation factor BRFU|hBRFU|hTFIIIB50|transcription factor IIB- related factor, TFIIIB50|transcription factor IIIB 50 kDa subunit protein-coding 1319388 BRI3 brain protein I3 1580863 19366692,18452648,17390049,16508092,16341674,15489334,14592447,12477932,11860200,9847074,8076819,15606899,20538055 25798 NM_015379,NM_001159491,AC091654,AC093169,CH236956,CH471091,AB055977,AF041430,AF106966,BC018737,BC062370,BF108440,BF432881,BQ018487,BQ083249,CB054862,CB528682 NP_056194,NP_001152963,EAW76713,EAW76714,EAW76715,BAB32785,AAF18565,AAD05167,AAH18737,AAH62370,O95415,ADR82701 Hs.567438 I3 brain protein I3|pRGR2 protein-coding 1348808 BRI3BP BRI3 binding protein 1580863 17765869,15489334,14702039,12477932,11860200 140707 NM_080626,AC093719,AC122688,CH471054,AF283671,AF284094,AF441865,AK055703,BC034525,CA488612 NP_542193,EAW98470,EAW98471,AAL33003,AAL54382,AAN76689,AAH34525,Q8IX35,Q8WY22 Hs.596464 BNAS1|HCCR-2|HCCRBP-1|KG19 BRI3-binding protein|HCCR-1|I3-binding protein|cervical cancer 1 proto-oncogene-binding protein KG19|cervical cancer oncogene binding protein protein-coding 1626266 BRI3P1 brain protein I3 pseudogene 1 730010 NG_009718,AL445928 pseudo 1626269 BRI3P2 brain protein I3 pseudogene 2 441630 NG_009662,AC026310 pseudo 1316979 BRIP1 BRCA1 interacting protein C-terminal helicase 1 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq] 1580863,1600525 11301010,15878853,14576433,14504288,19584272,19536649,19484476,19150983,19127258,19124506,19116388,19064572,19064565,19012493,19011769,18978354,18950845,18676680,18628483,18557994,18483852,18426915,18414782,18345034,18270339,17664283,17596542,17581638,17557904,17504528,17342202,17033622,16485136,16430786,16153896,16116424,16116423,16116421,15489334,15302935,15133502,15125843,15113441,14983014,14702039,12872252,12565990,12477932,11920628,11595410,15242590,15208681,14578343,11877378,19714462,19913121,20332657,20567916,20587610,20628086,20639400,17148452,17525341,17525342,19170196,19419957,19504183,19625176,19690177,19692168,19748364,19763819,19935797,20150366,20173781 1600525 83990 NM_032043,NG_007409,AC002994,AC005969,AC060798,CH471179,AF360549,AK074713,BC101472,BC101474 NP_114432,EAW51430,EAW51431,EAW51432,EAW51433,AAK38111,BAC11156,AAI01473,AAI01475,Q9BX63,ADR83292 Hs.128903 BACH1|FANCJ|FLJ90232|MGC126521|MGC126523|OF ATP-dependent RNA helicase BRIP1|BRCA1-associated C-terminal helicase 1|BRCA1-binding helicase-like protein BACH1|BRCA1-interacting protein 1|BRCA1-interacting protein C-terminal helicase 1|BRCA1/BRCA2-associated helicase 1|Fanconi anemia group J protein protein-coding 1322310 BRMS1 breast cancer metastasis suppressor 1 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863,2289400 16449650,17000776,21056991,16919237,19405953,19307053,19165610,19111386,19052374,18841483,18664570,18566899,18543067,18502034,18470911,18276787,18211900,17896182,17854218,17227585,15867352,15705865,15592684,15489334,15451426,15168732,14581478,12650606,12477932,12414911,11822878,11774238,10850410,8889548,16169070,20083343,19609101,17085653,16712791 2289400 25855 CR457173,NM_001024957,AF281036,AP001107,CH471076,AF147350,AF159141,AI797564,AK310991,AK313773,AL050008,BC009834,BM312965,BU734281,CB130346,CB529276,NM_015399,CR599820,CR617084,CR617683,CR618839,CR620200,CR620223 NP_056214,NP_001020128,AAK69131,EAW74513,EAW74514,EAW74515,EAW74516,AAG00075,BAG36511,CAB43235,AAH09834,CAG33454,Q9HCU9,Q9Y3T1 Hs.100426 DKFZp564A063 breast cancer metastasis-suppressor 1 protein-coding 1314372 BRMS1L breast cancer metastasis-suppressor 1-like The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). 15451426,14702039,12477932,16387653,17207965 84312 NM_032352,AL162311,CH471078,AA836514,AK096496,AK309431,AK310359,AK315424,AY827074,BC006250,BU507838,CR595618,CR612796,AK297106 NP_115728,EAW65867,BAG53305,BAG37812,AAV83797,AAH06250,Q5PSV4,BAG59617,ADQ32328 Hs.525299 BRMS1|MGC11296 BRMS1-homolog protein p40|BRMS1-like protein p40|breast cancer metastasis-suppressor 1-like protein protein-coding 1604029 BRP44 brain protein 44 19064610,16710414,16381901,15489336,15489334,12477932,11256614,11230166,11076863,3022128,16169070,19536175,20877624 25874 NM_001143674,NR_026550,NM_015415,CH471067,Z97876,AK290126,AK311913,AL035304,AL110297,BC104157,BC104158,CR407632,CR533473,CR594136,CR607153,CR615341,CR622477,CR626165,DC374001,FB746595 NP_001137146,NP_056230,EAW90813,EAW90814,EAW90815,EAW90816,CAI20075,CAI20076,BAF82815,BAG34854,CAA22909,CAB53738,AAI04158,AAI04159,CAG28560,CAG38504,O95563,Q5R3B4,CAL37963,CAV31074 Hs.517768 DKFZp564B167|MGC125752|MGC125753 OTTHUMP00000032518|brain protein 44 protein-coding 1352706 BRP44L brain protein 44-like 17672918,15489334,12477932,11252172,11042152,10810093,16169070,20877624,19834535 51660 AK312201,AF275811,BC000810,BG828174,CR591621,CR618688,CR621401,NM_016098,AL022069,CH471051,AF125101,AF151887 AAG23822,AAD34124,BAG35134,AAH00810,Q5TI65,Q9Y5U8,NP_057182,CAI19654,CAI19655,EAW47527,EAW47528,EAW47529,EAW47530,EAW47531,AAD39918 Hs.172755 CGI-129|dJ68L15.3 HSPC040 protein|brain protein 44-like protein protein-coding 1316705 BRPF1 bromodomain and PHD finger containing, 1 The protein encoded by this gene is expressed ubiquitously and at the highest level in testes and spermatogonia. The protein is localized within nuclei, and it is very similar in structure to two zinc finger proteins, AF10 and AF17. It is suggested that these proteins form a family of regulatory proteins. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16387653,18794358,17081983,15302935,12477932,8946209,7906940,20400950,18029348,19001415,20211142,19913121,20628086 7862 NM_001003694,NM_004634,AC022382,AF176815,CH471055,AI356310,AK293865,AL713696,BC036374,BC053851,BC068262,BG704575,M91585 P55201,NP_001003694,NP_004625,AAF19605,EAW63972,EAW63973,EAW63974,EAW63975,EAW63976,BAG57257,CAD28495,AAH53851,AAB02119 Hs.1004 BR140 OTTHUMP00000207278|OTTHUMP00000207279|bromodomain and PHD finger-containing protein 1|bromodomain-containing protein, 140kD|peregrin protein-coding 1315730 BRPF3 bromodomain and PHD finger containing, 3 1580863 17474147,14574404,12477932,10574462,14630798,16387653,18794358,6457647 27154 AK074362,NM_015695,CH471081,Z84485,AB033112,AK000751,AK025134,AK025224,AK123574,AK172787,BC033652,BC039615,BC117387,BC143917,BC143918,BC143919 EAX03877,Q9ULD4,NP_056510,EAX03878,EAX03879,EAX03880,EAX03881,EAX03882,CAI21669,BAA86600,BAA91359,BAB85060,AAH33652,AAI17388,AAI43918,AAI43919,Q17RB6,Q8N4T7,Q8TE92,Q9NWM1 Hs.520096 bromodomain and PHD finger-containing protein 3 protein-coding 733512 BRS3 bombesin-like receptor 3 Mammalian bombesin-like peptides (see MIM 137260) are widely distributed in the central nervous system as well as in the gastrointestinal tract, where they modulate smooth-muscle contraction, exocrine and endocrine processes, metabolism, and behavior. They bind to G protein-coupled receptors on the cell surface to elicit their effects. Bombesin-like peptide receptors include gastrin-releasing peptide receptor (MIM 305670), neuromedin B receptor (MIM 162341), and bombesin-like receptor-3 (BRS3) (Ohki-Hamazaki et al., 1997).[supplied by OMIM] 734661,1580863 8383682,9367152,17714959,17355223,16979789,15772651,12102638,9593699,8822519,8131855,19913121,20628086 734661 680 NM_001727,AF117712,CH471150,X76498,Z97632,AY585193,L08893 NP_001718,AAD21615,EAW88470,CAA54031,CAB10731,AAT79496,AAA35604,P32247,Q9UQK4,AAI52939 Hs.121484 BRS-3|G-protein coupled receptor|bombesin receptor subtype 3|bombesin receptor subtype-3 protein-coding 1353238 BRSK1 BR serine/threonine kinase 1 1580863 16306228,18029348,18254724,19448619,19448621,19648910,15150265,14976552,18854318,18339622,16630837,15489334,12477932,11347906 84446 NM_032430,AC008974,AC020922,CH471135,AB058714,AF479826,AF479827,AK124999,AL831945,AL834275,AY458602,AY505124,BC016681 NP_115806,EAW72359,EAW72360,EAW72361,BAB47440,AAL87697,AAL87698,BAG54120,CAD38595,CAD38950,AAS10354,AAS86442,AAH16681,Q8TDC3 Hs.182081 FLJ43009|KIAA1811 BR serine/threonine-protein kinase 1|SAD1 kinase|protein kinase SAD1A|serine/threonine-protein kinase SAD-B protein-coding 1345228 BRSK2 BR serine/threonine kinase 2 14976552,18854318,18794342,18339622,16870137,16630837,16165222,15489334,15150265,14702039,12477932,11124703,9929968,9852686,18254724,20562859,20646422 9024 AC091196,AC136297,CH471158,AF020089,AF533876,AF533877,AF533878,AF533879,AF533880,AJ006701,AK074411,AK122851,AK123356,AK131534,NM_003957,AK297211,AK297306,AY166857,AY505125,BC017182,BC024291,BG395884,DR001379 NP_003948,EAX02436,EAX02437,EAX02438,EAX02439,EAX02440,EAX02441,EAX02442,EAX02443,EAX02444,AAD09654,AAP97723,AAP97724,AAP97725,AAP97726,AAP97727,CAA07196,BAG53761,BAC85593,BAD18671,BAG59695,BAG59772,AAN87839,AAS86443,AAH24291,Q6ZWB1,Q8IWQ3,AAI52770 Hs.170819 C11orf7|FLJ41362|PEN11B|SAD1|STK29 BR serine/threonine-protein kinase 2|protein kinase SAD1B|serine/threonine kinase 29|serine/threonine kinase SAD-A|serine/threonine-protein kinase 29|serine/threonine-protein kinase SAD-A protein-coding 1316936 BRUNOL4 bruno-like 4, RNA binding protein (Drosophila) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10893231,11158314,19240061,18521091,17672918,15894795,14973222,14702039,12477932,12107411,11984006,8889548,19359265,19911421,20379614 56853 NM_001025087,NM_001025088,NM_001025089,AC015961,AC090386,AC093332,AC129908,CH471088,AA669357,AB209774,AF141345,AF248650,AF248651,AF329265,AK074596,AK091694,NM_020180,AK126716,AK295009,BC001946,BC004167,BC045711,BC127795,BF592968,BM671360,BM718619,BQ637723 NP_064565,NP_001020258,NP_001020259,NP_001020260,EAX01394,EAX01395,EAX01396,EAX01397,BAD93011,AAG49448,AAF86232,AAF86233,AAK07475,BAC11082,BAG58069,AAH01946,AAH04167,AAH45711,AAI27796,Q9BZC1,Q9C059 Hs.435976,Hs.600908 BRUNOL-4|BRUNOL4|CELF4 Bruno -like 4, RNA binding protein|CELF-4|CUG-BP and ETR-3 like factor 4|CUG-BP- and ETR-3-like factor 4|CUGBP Elav-like family member 4|LYST-interacting protein LIP9|RNA-binding protein BRUNOL-4|RNA-binding protein BRUNOL4|bruno-like 4, RNA binding protein|bruno-like protein 4 protein-coding 1345217 BRUNOL5 bruno-like 5, RNA binding protein (Drosophila) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 12477932,11158314,10893231 60680 NM_021938,AC005331,AC006505,AC010649,AC123911,AL390161,CH471139,AB209067,AF248649,AF329266,AK294109,AL832550,BC028101,BC047522,AA448420,NM_001172673,NR_033342 ABM82574,ABM85763,NP_068757,AAC27666,EAW69327,EAW69328,BAD92304,AAF86231,AAK07476,BAG57444,AAH28101,Q8N6W0,NP_001166144 Hs.655747 BRUNOL-5|BRUNOL5|CELF5 CELF-5|CUG-BP and ETR-3 like factor 5|CUG-BP- and ETR-3-like factor 5|CUGBP Elav-like family member 5|RNA-binding protein BRUNOL-5|bruno-like 5 RNA binding protein|bruno-like protein 5 protein-coding 1321359 BRUNOL6 bruno-like 6, RNA binding protein (Drosophila) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. [provided by RefSeq] 1580863 14761971,12477932,12107410,10893231,8889548 60677 NM_052840,AC009690,CH471082,AF401233,AF425606,AK124858,AK131098,AK294382,AK296004,BC030835,BC033838,BM930660,CA393931,DC368992,NM_001172684,NM_001172685 NP_443072,EAW77900,EAW77901,AAK95615,AAL34513,BAG54108,BAC85148,BAG57639,BAG58778,AAH30835,AAH33838,Q59FM6,Q96J87,NP_001166155,NP_001166156 Hs.348342 BRUNOL6|CELF6 Bruno -like 6, RNA binding protein|CELF-6|CUG-BP and ETR-3 like factor 6|CUG-BP- and ETR-3-like factor 6|CUGBP Elav-like family member 6|RNA-binding protein BRUNOL-6|bruno-like 6, RNA binding protein|bruno-like protein 6 protein-coding 1345101 BRWD1 bromodomain and WD repeat domain containing 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats, and the function of this protein is not known. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates 3 transcript variants diverging at the 3' ends. [provided by RefSeq] 16964240,20014019,20379614,16780588,14702039,12889071,12477932,12359327,10830953,9480850,8889548 54014 NM_033656,NM_001007246,AF064861,AF129408,AL163279,CH471079,AA807344,AB080586,AB080587,AB080588,AB080589,AB080590,AB080591,AB080592,AB080593,AI307266,AJ002572,AJ002574,AJ222636,AJ238214,AJ238555,AJ238556,AJ238573,AJ292465,AJ292466,AK002177,AK125906,NM_018963,AL109785,AL109786,AL162036,AL558272,BC031545,BC047058,BC064602,BC142986,BI914338,BQ930702,CA503340,CR593840,CR612626 NP_061836,NP_387505,NP_001007247,CAB90452,EAX09657,EAX09658,EAX09659,EAX09660,EAX09661,BAD74071,BAD74072,BAD74073,BAD74074,BAD74075,BAD74076,BAD74077,BAD74078,CAA10896,CAC37033,CAC44371,CAC44372,AAH64602,AAI42987,Q5R2U4,Q5R2U5,Q5R2U6,Q5R2U7,Q5R2U8,Q5R2U9,Q6P2D1,Q9NSI6,AAI40080 Hs.654740 C21orf107|FLJ43918|N143|WDR9 WD repeat domain 9|WD repeat protein WDR9-form2|WD repeat-containing protein 9|bromodomain and WD repeat-containing protein 1|cAMP response element binding and beta-tranducin family-like|transcriptional unit N143|wd repeat domain 9 protein-coding 1318273 BRWD2 bromodomain and WD repeat domain containing 2 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq] 1580863 15489334,15164054,14702039,12684693,12684685,12477932,11536051,10718198,20562859,20887964,16385451 55717 NM_018117,AC010998,AL391425,CH471066,AB037772,AF320223,AK000579,AK001368,AK025050,AK124522,AK299524,AK301761,AK315145,AL137699,BC040469,BC071564,BI912281,CR591774,NG_023290,DC342128,W16996 NP_060587,CAH72488,EAW49363,EAW49364,EAW49365,EAW49366,BAA92589,AAK08064,BAA91269,BAA91652,BAG61474,BAG63221,BAG37593,CAH56385,AAH40469,AAH71564,Q659C9,Q9BZH6,Q9NVU3,Q9NWV7 Hs.144447 BRWD2|DKFZp434L1715|DR11|FLJ42531|WDR11|WDR15 WD repeat domain 15|WD repeat-containing protein 11|WD repeat-containing protein 15|WD40 repeat domain 11 protein|bromodomain and WD repeat domain containing 2|bromodomain and WD repeat-containing protein 2 protein-coding 1354337 BRWD3 bromodomain and WD repeat domain containing 3 19377476,17668385,17081983,16094372,15772651,15543602,15489334,14702039,12477932 254065 AL512504,AL590031,AL669934,AK095887,AY497046,AY497047,AY497048,AY497049,AY497050,AY497051,AY497052,AY497053,AY497054,AY497055,AY497056,NM_153252,AA716141,AK090573,NG_021349,AY497059,AY497060,BC039508,BC111490,BI825932,CB269573,AY497057,AY497058 NP_694984,CAI39936,CAI95405,BAC04641,AAS45471,AAS45472,AAS45473,AAS45474,AAS45475,AAS45476,AAS45477,AAS45478,AAS45479,AAS45480,AAS45481,AAS45482,CAI95143,AAS45483,AAS45484,AAS45485,AAI11491,Q6RI45 Hs.613180,Hs.147027 BRODL|FLJ33254|FLJ38568|MRX93 bromo domain-containing protein disrupted in leukemia|bromodomain and WD repeat-containing protein 3|novel WD repeat domain protein protein-coding 1317732 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes protein seipin, which is located in the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1600600,1600602,1600601,1580863 14981520,19252810,18698612,18612770,18585921,18458148,18250201,18224579,18155601,18093937,19438831,17535271,17486577,17420921,17387721,16435205,16427281,16344560,16341674,15732094,15489334,15342556,15181077,15126564,14702039,14602785,12477932,11479539,11389484,9373149,9110174,17663003,8619474,8125298,16189514,20598714,20806400,19226263,19278620,19323790,19396477,19574402,19762912 1600600,1600602,1600601 26580 NM_001130702,NM_001122955,NM_032667,NG_008461,AP001458,CH471076,CQ783924,CS072299,AF052149,AK027524,AK075317,AK223606,AK225029,AK315423,BC004911,BC009866,BC012140,BC041640,BC093048,BM763152,BP370169,CD107822,CR590725,CR591088,CR591779,CR599907,CR601079,CR602177,CR603960,CR609599,CR609654,CR613569,CR613731,CR614623,CR616136,CR617488,CR618858,CR620589,CR621335,CR625078,DB178846 NP_001124174,NP_001116427,NP_116056,EAW74070,EAW74072,EAW74073,EAW74074,EAW74075,EAW74080,EAW74081,CAF86927,CAI93437,BAB55175,BAC11543,BAD97326,AAH04911,AAH12140,AAH41640,AAH93048,Q53EN3,Q96G97,ABM84409,ABW03570 Hs.533709 FLJ16651|GNG3LG|HMN5|MGC4694|SPG17 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)|OTTHUMP00000198002|OTTHUMP00000198005|OTTHUMP00000198008|OTTHUMP00000198013|bernardinelli-Seip congenital lipodystrophy type 2 protein|seipin protein-coding 1605672 BSDC1 BSD domain containing 1 16710414,16341674,15489334,15342556,15203218,15146197,14702039,12975309,12477932,9373149,8125298,16169070 55108 NM_001143890,NM_001143889,NM_001143888,NM_018045,AL109945,CH471059,AK001138,AK021440,AK225026,AK225717,AK293454,AK297352,AK297604,AK300231,AK300306,AK304477,AK316172,AY358230,BC010573,BC026322,BC028381,BM760887,BM995122,BP363955,BX641056,CD628901,CN302967,CR457252,CR749228 NP_001137362,NP_001137361,NP_001137360,NP_060515,CAI22889,CAI22890,EAX07525,EAX07526,EAX07527,EAX07528,EAX07529,EAX07530,BAA91517,BAB13825,BAG56950,BAG59801,BAG59989,BAG61999,BAG62059,BAG65290,BAH14543,AAH26322,AAH28381,CAE46029,CAG33533,CAH18084,Q9NW68,ACE87657,ACE86967,AAQ88597 Hs.353454 DKFZp686B09139|FLJ10276|RP4-811H24.7 BSD domain-containing protein 1|OTTHUMP00000211102 protein-coding 10249 BSG basigin (Ok blood group) The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2289051,2289053,2289063,2289052,2289054,2289055,2289059,2296028,2296029,734663,734662,1580863 20514014,14985463,17353931,9767135,14707126,15946952,10880960,19438743,19427027,19337990,19298604,19223118,19176383,19093255,19019167,19015455,18997004,18852494,18847500,18816083,18778892,18762818,18751374,18695939,18689982,18689500,18688595,18665467,18664479,18608214,18567995,18554952,18508606,18456655,18434307,18431027,18430721,18273614,18256385,18223224,18160808,18160397,18048771,18035727,17996943,17965264,17962725,17725804,17589939,17579119,17460779,17444954,17441962,17267690,17209789,17145878,17127621,17088917,17081983,17081065,17050542,16911716,16824781,16778084,16771728,16721788,16633062,16627983,16507143,16461815,16443928,16425263,16396496,16339461,16310185,16207318,16189514,15904490,15890777,15833850,15831673,15823273,15770719,15711733,15671024,15632013,15489334,15340161,15201341,15181074,15161697,15057824,11943775,19548138,19995409,20381119,12558975,15901826,15917240,16080871,17540176,17593815,17706116,18774544,19048397,19176030,19350111,19372030,19473445,19500591,19541433,19580345,19582878,19597352,19615356,19615732,19639092,19751784,19758589,19768682,19775453,19779140,19885565,19956835,20047591,20060267,20082877,20083879,20147391,20199151,20236683,20406987,7273846,19950699,20483678,20824203,17633444,20658178,20345978,14749763,14729463,14702039,14671212,12975309,12939332,12925876,12902469,12898514,12792908,12754519,12692261,12553375,12526080,12477932,12174874,12173047,12117738,11992541,11688976,10921872,10706100,9360995,9130641,8752667,8404035,7812975,2032306,1846736,1783610,1634773,19019082,16712791,20558462,20810913,20021816,20451562,19913121,20384626,20451353,20454640,20628086,20631064,20646600,20525232 2289051,2289053,2289063,2289052,2289054,2289055,2289059,2296028,2296029,734663,734662 682 CR619245,NM_001728,NM_198589,NG_007468,AC005559,AC009005,AF042854,AY942196,CH471242,AB072923,AB085790,AB091680,AF548371,AK095912,AK296858,AK297880,AK302231,AY358113,BC009040,BG480530,BI464857,BU501595,CB153773,CR591697,CR591998,CR592900,CR595656,CR595925,CR596692,CR597284,CR597832,CR600626,CR601862,CR602687,CR603442,CR609558,CR609700,CR611405,CR611864,CR611929,CR614422,CR615555,CR616379,CR619238,NM_198591,CR622629,CR623986,CR626008,D45131,L10240,L20471,M87879,X64364,GU557064,GU557065 NP_940993,NP_001719,NP_940991,AAC33279,AAD10704,AAX20110,EAW61180,EAW61181,EAW61182,EAW61183,EAW61184,EAW61185,EAW61186,EAW61187,BAB88938,BAC76828,BAC67168,AAN40694,BAG59422,BAG60203,BAG63585,AAQ88480,AAH09040,BAA08109,AAA68936,AAB41120,AAA91084,CAA45716,P35613,Q54A51,ADD31881,ADD31882 Hs.501293 5F7|CD147|EMMPRIN|M6|OK|TCSF CD147 antigen|OK blood group antigen|basigin|collagenase stimulatory factor|extracellular matrix metalloproteinase inducer|leukocyte activation antigen M6|tumor cell-derived collagenase stimulatory factor protein-coding 735544 BSN bassoon (presynaptic cytomatrix protein) Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq] 1580863 12477932,10329005,9806829,19422935,19367581,19165527,17554300,12628169,9679147,9455477,14734538,17554261,19567891,19657358,19812333,19915572,20024904,20307617,21092860,21092861,21102463,20846217 8927 NM_003458,AC099668,AC104452,CH471055,Y18448,Y18449,Y18450,Y18451,Y18452,AB007894,AF052224,AW131629,BC110587,NG_015892 NP_003449,EAW64992,EAW64993,CAA77176,BAA23707,AAC83555,Q9UPA5 Hs.194684 ZNF231 neuronal double zinc finger protein|protein bassoon|zinc finger protein 231 protein-coding 1346772 BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin) This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq] 1600603,1580863 19096086,19646679,18843510,18776122,18094726,17954364,17652939,17510212,16849430,16773427,16572343,15496163,15489334,12761627,12574213,12477932,12111250,11734858,11687798,19913121,20628086 1600603 7809 NM_057176,NG_008965,AL589790,AL590440,CH471059,AK129999,AY034632,BC069510,BC103898,BC103899,BC103900 NP_476517,CAI17846,CAH70360,EAX06661,AAK57750,AAI03899,AAI03900,AAI03901,Q5VU50,Q8WZ55 Hs.151291 BART|DFNB73|MGC119283|MGC119284|MGC119285 barttin|deafness, autosomal recessive 73 protein-coding 2306586 BSPH1 binder of sperm protein homolog 1 19091820,18923155,17085770,15057824 100131137 NM_001128326,AC010330,DQ227497 NP_001121798,ABB71591,Q075Z2 Hs.651072 BSP1|ELSPBP2 binder of sperm 1|bovine seminal plasma protein homolog 1|bovine seminal plasma protein-like 1|epididymal sperm binding protein 2 protein-coding 1347567 BSPRY B-box and SPRY domain containing 15489334,15164053,14702039,12615066,12477932,11099500,10978534,19929093 54836 NM_017688,AL137066,CH471090,AJ276691,AK000157,AK092607,BC001477,BX462607,CR603733,EL954585,W44700 NP_060158,CAH70097,EAW87374,CAC09324,BAA90980,BAG52581,AAH01477,Q5W0U4 Hs.614517 FLJ20150 B box and SPRY domain-containing protein|B-box and SPRY-domain containing protein|zetin 1 protein-coding 1342632 BST1 bone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq] 1580863 20639476,8202488,19052657,18211745,16344560,16335952,15815621,15489334,15328157,12477932,12415565,11866528,11602246,11439087,10599889,9030974,8941363,8889548,8645283,8630113,20711177,21044948,21084426,19915576,20697102 683 NM_004334,AC114744,CH471069,AB175627,AK312497,BC012095,BT019502,BU732655,CR603536,D21878,DA382561 NP_004325,AAY40930,EAW92744,BAE92566,BAG35399,AAH12095,AAV38309,BAA04885,Q10588,Q1XII0 Hs.720344 CD157 ADP-ribosyl cyclase 2|BST-1|NAD(+) nucleosidase|OTTHUMP00000217617|bone marrow stromal antigen 1|cADPr hydrolase 2|cyclic ADP-ribose hydrolase 2 protein-coding 1346555 BST2 bone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq] 1580863 20485522,19032371,18200009,20980512,21068238,20861257,20861258,20444895,20444900,20529266,20399176,20585562,20702620,20850859,20708210,12761501,7607676,19564354,19474106,19461879,19359243,19338666,19286137,19273615,19091864,16602701,16157322,15489334,12477932,10329429,9373149,8522202,8125298,18029348,19436700,19478868,19490609,19515779,19605472,19737401,19740980,19742323,19837671,19879838,20015985,20019814,20078884,20140192,20147389,20147395,20221443,20237496,20329562,20880831,20940320,20686043,20126395,19864625,20628624,20636339 684 NM_004335,AC010319,CH471106,AK223124,AK291099,AK303593,BC033873,CR591045,CR609450,D28137,AY320402 Q10589,NP_004326,EAW84602,EAW84603,BAD96844,BAF83788,BAG64608,AAH33873,BAA05679,AAP73804,Q7Z5Z8 Hs.118110 CD317|TETHERIN BST-2|HM1.24 antigen|NPC-A-7|bone marrow stromal antigen 2|tetherin protein-coding 1626189 BSX brain-specific homeobox 17353277,14678827,18029348,18855024,21102462 390259 NM_001098169,AP003040,AB231738 NP_001091639,BAE46889,Q3C1V8 Hs.449687 BSX1 brain specific homeobox|brain-specific homeobox protein homolog protein-coding 1352187 BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) Initiation of transcription by RNA polymerase II requires the assistance of TATA box-binding protein (TBP; MIM 600075) and TBP-associated factors, or TAFs (e.g., TAF2B; MIM 604912), in 2 distinct complexes, TFIID and B-TFIID. The TFIID complex is composed of TBP and more than 8 TAFs. However, the majority of TBP is present in the B-TFIID complex, which is composed of TBP and TAFII170, also called TAF172, and has DNA-dependent ATPase activity.[supplied by OMIM] 1580863 9342322,9488487,18025106,16531235,15509807,15302935,14988402,12646231,12477932,10642510,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461,7835343,9159119,19454010,20627952,16385451,20379614 9044 NM_003972,AF166116,AF166118,AL359198,AL365398,CH471066,CQ834836,AB208843,AF038362,AJ001017,AK303554,AK308399,BC029930,BC030273,BC047009,BC112201,CR621419 NP_003963,AAF37802,AAF37803,CAI14103,EAW50102,EAW50103,CAH05633,BAD92080,AAC04573,CAA04475,BAG64578,AAH29930,AAH30273,AAH47009,AAI12202,O14981,Q05C17,Q59HB6,Q6PI32,Q8N6J1 Hs.500526 KIAA0940|MGC138406|MOT1|TAF(II)170|TAF172|TAFII170 ATP-dependent helicase BTAF1|B-TFIID transcription factor-associated 170 kDa subunit|TATA-binding protein-associated factor 172|TBP-associated factor 172 protein-coding 1322160 BTBD1 BTB (POZ) domain containing 1 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 11179693,11256614,16381901,15489336,15489334,15486563,14702039,12878161,12477932,11818025,11230166,11076863,10737800,9373149,8125298,20531441,18305892,19615732 53339 NM_001011885,NM_025238,AC022558,AC024270,CH471188,AF257241,AF355402,AF529369,AK000731,AK225355,AK225362,AL136853,AY364253,BC017464,BC028097,BF095127,BI553790,CR602779,CR610149,AK294410,AK298534 NP_001011885,NP_079514,EAW62429,EAW62430,AAK17068,AAK25825,AAQ09603,BAA91345,CAB66787,AAQ76812,AAH28097,Q3ZTS5,Q9H0C5,CAL38638,ABM82384,ABM85561,BAH11757,BAH12808 Hs.459149 C15orf1|NS5ATP8 BTB domain containing 1|BTB/POZ domain-containing protein 1|HCV NS5A-transactivated protein 8|hepatitis C virus NS5A-transactivated protein 8 protein-coding 1601947 BTBD10 BTB (POZ) domain containing 10 12477932,16169070,18160256,16344560,15556295,15489334,14702039,20379614 84280 NM_032320,AC016884,AC021269,CH471064,AF329102,AK095946,AK292392,AK310935,AL832981,AY221959,BC005071,BC017072,BC062633,CR609613,DB030132,AK294259,AK294768,AK298226,AK316163 NP_115696,EAW68497,EAW68498,EAW68499,EAW68500,EAW68501,EAW68502,AAL69061,BAF85081,CAH56329,AAO64360,AAH05071,AAH17072,AAH62633,Q6P5W1,Q7L2U6,Q9BSF8,ACE87396,ACE86711,BAH11714,BAH11877,BAH12739,BAH14534 Hs.332382 GMRP-1|GMRP1|MGC13007 BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10|BTB/POZ domain-containing protein 10|K+ channel tetramerization protein protein-coding 1318539 BTBD11 BTB (POZ) domain containing 11 20379614,14702039,12477932,19913121,20628086 121551 NM_001017523,AC007540,AC007649,AC009774,CH471054,AI638039,AK091276,AK094304,AK122818,AK124835,AK127012,NM_001018072,AK127295,AK128445,AY373588,BC027931,BC093627,BC093629,BC101561,BC101563,BC146824 NP_001018082,NP_001017523,EAW97799,EAW97800,EAW97801,BAC03626,BAG53742,BAC85963,BAG54422,BAG54475,BAG54675,AAR21078,AAH93627,AAH93629,AAI01562,AAI01564,AAI46825,A6QL63 Hs.271272 FLJ33957|FLJ42845 ANK-repeat BTB domain containing protein|BTB/POZ domain-containing protein 11|ankyrin repeat and BTB/POZ domain-containing protein BTBD11 protein-coding 1347724 BTBD12 BTB (POZ) domain containing 12 19595721,19595722,19596235,19596236,15616553,15489334,14702039,12477932,11853319,11347906,19394292 84464 NM_032444,AC006111,CH471112,AB058687,AB075867,AK095411,AK122775,AL442083,BC029952,BC036335,BC104222,BC104223,BC112989,BC112990,BE887716,BM541728 NP_115820,EAW85345,EAW85346,EAW85347,BAB47413,BAB85573,CAH10659,Q8IY92 Hs.143681 BTBD12|KIAA1784|KIAA1987|MUS312|SLX4 BTB (POZ) domain containing 12|BTB/POZ domain-containing protein 12|structure-specific endonuclease subunit SLX4 protein-coding 1322924 BTBD16 BTB (POZ) domain containing 16 18519826,15489334,15164054,14702039,12477932,16385451,19488044,20379614 118663 NM_144587,AL135793,BX842243,CH471066,AA926746,AK058088,BC109261,BC109262 NP_653188,CAI95133,EAW49320,EAW49321,BAB71658,AAI09262,AAI09263,Q32M84 Hs.422466 C10orf87|FLJ25359|MGC129864|MGC129865 BTB/POZ domain-containing protein 16|chromosome 10 open reading frame 87 protein-coding 2301265 BTBD17 BTB (POZ) domain containing 17 16625196 388419 NM_001080466,AC103809,CH471099 NP_001073935,EAW89155,A6NE02,AAI68374 Hs.211870 BTBD17A|LGALS3BPL BTB/POZ and BACK domain-containing protein LOC388419|BTB/POZ domain-containing protein 17|galectin-3-binding protein-like protein-coding 2923345 BTBD18 BTB (POZ) domain containing 18 11181995,12477932 643376 AI699344,AP001931,BC157853,BC157854,CH471076,DC346943,NM_001145101 AAI57854,AAI57855,B2RXH4,EAW73783,NP_001138573 Hs.606355 BTB/POZ domain-containing protein 18|hCG1730474 protein-coding 3031244 BTBD19 BTB (POZ) domain containing 19 14702039 149478 AK056150,AK304611,AL592166,NM_001136537 BAG65396,C9JJ37,NP_001130009 Hs.632400 BTB/POZ domain-containing protein 19|OTTHUMP00000203846 protein-coding 1344972 BTBD2 BTB (POZ) domain containing 2 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq] 1580863 16169070,18305892,15761153,15489334,15231748,15057824,14702039,12878161,12782588,12477932,11818025,11179693,9373149,9110174,8619474,8125298,20610542,19615732,20368557 55643 NM_017797,AC004678,AC005306,CH471139,AF355797,AK000393,AK027481,AK056818,AK225831,AL360275,AY007116,BC000564,BC008035,BC053986,BC069199,BC094820,BU849231,CR457230,CR622857 NP_060267,AAC16070,AAC26984,AAG45443,EAW69424,EAW69425,AAK25826,BAA91136,BAB55143,CAB96527,AAH00564,AAH08035,AAH53986,AAH69199,AAH94820,CAG33511,Q6NT96,Q9BX70,AAI52719,AAI56975 Hs.465543 BTB/POZ domain-containing protein 2 protein-coding 1323177 BTBD3 BTB (POZ) domain containing 3 1580863 14702039,12477932,12421765,11780052,10231032,20463552 22903 NM_181443,NM_014962,AL035448,CH471133,AB023169,AK024349,AK296364,AK299281,AK300371,AK307472,AL137756,BC093677,BC101527,BC109315,BC109316,CB961606,CR614620,AK316256 NP_852108,NP_055777,CAC22147,CAI22619,EAX10327,EAX10328,BAA76796,BAG59039,BAG61298,BAG62107,CAB70908,AAH93677,AAI01528,AAI09316,AAI09317,Q52M42,Q5JY73,Q9NST6,Q9Y2F9,BAH14627 Hs.709366 KIAA0952|MGC130038|MGC130039|dJ742J24.1 BTB/POZ domain-containing protein 3|OTTHUMP00000030288|OTTHUMP00000197601|OTTHUMP00000197603|OTTHUMP00000197605|OTTHUMP00000197606 protein-coding 1352605 BTBD6 BTB (POZ) domain containing 6 1580863 15489334,12477932,12107413,8889548,20080956 90135 NM_033271,AL512355,CH471061,AF086420,AF173358,AF353674,BC006414,BC042525,BU730253,DB456488 NP_150374,EAW81913,EAW81914,AAF36536,AAK39520,AAH06414,AAH42525,Q96KE9 Hs.7367 BDPL BTB domain protein BDPL|BTB/POZ domain-containing protein 6|OTTHUMP00000163908|OTTHUMP00000212815|glucocorticoid receptor AF-1 coactivator-1|lens BTB domain protein protein-coding 1345329 BTBD7 BTB (POZ) domain containing 7 15489334,14702039,12477932,11527404,10819331 55727 NM_018167,AL122023,AL132838,CH471061,AB040958,AI452701,AK001510,AK021953,AK074354,AK091287,AK291422,AL049394,BC047071,BC141850,BX248762,BX538231,CR601367,NM_001002860,AK303355 NP_001002860,NP_060637,EAW81525,EAW81526,EAW81527,EAW81528,EAW81529,BAA96049,BAA91730,BAB13946,BAF84111,CAH10736,AAH47071,AAI41851,CAD66569,CAD98074,Q9P203,AAI67795,BAG64416 Hs.525549 DKFZp686N0544|FUP1|MGC48310 BTB/POZ domain-containing protein 7 protein-coding 1347221 BTBD8 BTB (POZ) domain containing 8 15489334,14654994,12477932,18029348,20562859 284697 NM_183242,AC104836,CH471097,AK296516,AY346333,BC013922 NP_899065,EAW73102,EAW73103,EAW73104,BAG59148,AAQ24383,AAH13922,Q5XKL5 Hs.676102 BTB/POZ domain-containing protein 8|double BTB/POZ domain containing protein protein-coding 1315893 BTBD9 BTB (POZ) domain containing 9 1580863 19615732,19822783,20379614,19279021,19223043,18363860,17637780,17634447,16344560,14702039,12477932,11572484 114781 NG_016545,NM_001172418,NM_001099272,NM_052893,NM_152733,AL031905,AL033518,AL079341,AL355345,AL451162,CH471081,AB067467,AK090930,AK126242,AL157476,BC035667,BC101354,BC101355,BC101356,BC101357,BX537534,CR596814,CR616810,DA391209,DB095510,AK057507 NP_001165889,NP_001092742,NP_443125,NP_689946,CAI42804,CAI42590,CAI20152,CAI43022,EAX03959,EAX03960,EAX03961,BAB67773,BAB71514,BAC03550,AAI01355,AAI01356,AAI01358,Q494V9,Q494W1,Q5JYJ1,Q5TF66,Q8N299,Q96Q07 Hs.603858 FLJ32945|KIAA1880|MGC120517|MGC120519|MGC120520|dJ322I12.1 BTB/POZ domain-containing protein 9|OTTHUMP00000016336|OTTHUMP00000016338|OTTHUMP00000216692 protein-coding 736353 BTC betacellulin The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. [provided by RefSeq] 1357906,2306978,2306966,2306973,2306965,2313774,2306967,1580863,2324625,2326087,2317963 20530572,10940639,10706134,9662041,9528863,8919026,7590736,8144591,8439318,18508082,17962208,17895248,17525275,17479438,16869959,16683131,16381901,16306376,15936459,15793259,15507448,15489336,15489334,15274392,15248827,15192046,12768307,12477932,12111392,12074582,11522793,11254912,11076863,20165885 1357906,2306978,2306966,2306973,2306965,2313774,2306967,2324625,2326087,2317963 685 NM_001729,AB109443,AC098825,AC116645,AC123887,CH471057,AB109441,BC011618,S55606 NP_001720,BAC76611,EAX05712,BAC76609,AAH11618,AAB25452,P35070,Q86UF5,CAL37603,CAL37873,CAL38181,CAL38427 Hs.710156 OTTHUMP00000219057|probetacellulin protein-coding 1313273 BTD biotinidase Biotinidase functions to recycle biotin in the body by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. Biotinidase has also been shown to have biotinyl-transferase activity. Defects in the biotinidase gene cause multiple carboxylase deficiency. [provided by RefSeq] 1580863 7509806,7550325,18645204,18479898,17185019,16341674,16335952,15776412,15489334,12618081,12477932,12359137,11668630,10737800,10655158,10206677,9654207,9530634,9396567,9099842,8001986,3930841,1679665,19806568,20549359,20539236,20556795,20532819 686 NM_000060,NG_008019,AC027129,AF018631,CH471055,AK294301,AK297033,AK301838,AK313252,BC012099,BE814713,BM839350,CR624205,U03274 NP_000051,AAC21679,EAW64254,EAW64255,EAW64256,BAG57582,BAG59561,BAH13565,BAG36062,AAH12099,AAC04318,P43251 Hs.517830 OTTHUMP00000209134|OTTHUMP00000209135|OTTHUMP00000209138|biotinase|biotinidase protein-coding 1317667 BTF3 basic transcription factor 3 This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. 1580863 19615732,1386332,18025262,2320128,17312387,15716105,15489334,12477932,11329013,10094400,9373149,8125298,8047162 689 AK310919,NM_001037637,NM_001207,AC099522,BX537826,CH471084,M90352,M90357,AB062126,AK225964,AK291125,BC008062,BC061913,BG182166,BT007120,BU661989,BX359147,CR590631,CR596528,CR599581,CR601105,CR602182,CR602819,CR603059,CR604932,CR605220,CR605983,CR607270,CR608812,CR609041,CR612512,CR612642,CR619863,CR620679,CR621732,CR622146,CR626478,X53280,X74070 NP_001032726,NP_001198,EAW95723,EAW95724,EAW95725,EAW95726,EAW95727,EAW95728,AAA58398,BAB93458,BAF83814,AAH08062,AAP35784,CAA37375,CAA52200,P20290,ABM83902,ABM87223 Hs.591768 BETA-NAC|BTF3a|BTF3b|NACB OTTHUMP00000222431|RNA polymerase B transcription factor 3|nascent-polypeptide-associated complex beta polypeptide|transcription factor BTF3 protein-coding 1344506 BTF3L1 basic transcription factor 3, like 1 pseudogene 1580863 12477932,9325059,1386332,18445777,20386566 690 NR_026983,AC000403,M90354,BC106717,BC106718,BC115358 AAA58400 Hs.567241 BTF3L1|BTF3P11|HUMBTFB|OCIF|OPG|TNFRSF11B pseudo 1347464 BTF3L2 basic transcription factor 3, like 2 This locus represents a putative member of the BTF3 family of transcription factors. With no transcription yet documented, it is thought that this locus represents a pseudogene. [provided by RefSeq] 1580863 1386332 652963 NG_005366,AC021558,M90355 AAB04035,Q13891 BTF3L2|BTF3P12|HUMBTFC pseudo 1345867 BTF3L3 basic transcription factor 3, like 3 This locus defines a putative member of the BTF3 family of transcription factors and is thought to represent a pseudogene. [provided by RefSeq] 1580863 1386332 132556 NG_006070,AC114811,M90356 AAA58401,Q13892 BTF3L3|BTF3P13|HUMBTFD pseudo 1605903 BTF3L4 basic transcription factor 3-like 4 16710414,15489334,14702039,12477932,11181995 91408 NM_152265,NR_024350,NM_001136497,AL139156,AL445685,AL606761,AX882440,CH471059,AK027582,AK027750,BC021004,BC022371,BC070378,BU567198,BU785869,CR611839,CR617527 NP_689478,NP_001129969,CAI22856,CAI17032,CAE91581,EAX06795,EAX06796,EAX06797,EAX06798,EAX06799,BAG51353,BAB55342,AAH21004,AAH22371,AAH70378,Q6PJ77,Q96K17,ABZ92137 Hs.429839 MGC23908|MGC88389|RP4-800M22.5 transcription factor BTF3 homolog 4|transcription factor BTF3-like protein-coding 1354341 BTF3P1 basic transcription factor 3, pseudogene 1 1386332 693 NG_001086,AC090186,M90353 HUMBTFA pseudo 3340241 BTF3P14 basic transcription factor 3 pseudogene 14 100132641 AC005668,NG_022441 pseudo 3028811 BTF3P15 basic transcription factor 3 pseudogene 15 100130409 AADB02013275,ABBA01063040,AL589948 pseudo 4144714 BTF3P16 basic transcription factor 3 pseudogene 16 643412 AC110994,NG_005360 pseudo 1344981 BTF3P2 basic transcription factor 3, pseudogene 2 283631 NG_002470,AL121766 pseudo 3498029 BTF3P4 basic transcription factor 3 pseudogene 4 392350 AL583829,NG_005362 pseudo 3160708 BTF3P5 basic transcription factor 3 pseudogene 5 652959 AC019198,NG_005363 pseudo 4109587 BTF3P6 basic transcription factor 3 pseudogene 6 100499261 AP000303,NG_023442 pseudo 3160707 BTF3P7 basic transcription factor 3 pseudogene 7 652960 AL391535,NG_005364 pseudo 3160706 BTF3P8 basic transcription factor 3 pseudogene 8 652961 AL451106,NG_005365 pseudo 2881281 BTF3P9 basic transcription factor 3 pseudogene 9 12477932 503543 AL606462,BC062736,NG_004831 Hs.586511 pseudo 736072 BTG1 B-cell translocation gene 1, anti-proliferative This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq] 2298943 20445134,9820826,11420681,15033446,1373383,9690562,16344560,15674337,15489334,14734530,12477932,12135500,11856371,11429045,11136725,10617598,8663146,2069907,16189514,18029348,18814951,19515430,9712883,20354172 2298943 694 NM_001731,AC025164,CR601264,CR604248,CR604369,CR606339,CR609466,CR609805,CR614716,CR615938,CR616550,CR616928,CR617798,CR620161,DB042281,X61123,CH471054,S38424,S38425,AK307057,AK313309,BC009050,BC016759,BC064953,BT019839,BT019840,BT019841,CR456876,CR541782,CR590022,CR595512,AY850133 NP_001722,CAA43435,P62324,Q6IBC8,ABW03845,ABW03541,AAV97814,EAW97466,EAW97467,AAA08538,BAG36114,AAH16759,AAH64953,AAV38642,AAV38643,AAV38644,CAG33157,CAG46581 Hs.255935 B-cell translocation gene 1 protein|protein BTG1 protein-coding 3231910 BTG1P1 B-cell translocation gene 1 pseudogene 1 100129641 AC007436,NG_016577 pseudo 69157 BTG2 BTG family, member 2 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq] 2289074,2289078,2289068,2289069,2289070,2289075,2289081,1580863 19546886,19615363,20020054,19203451,17353931,8944033,19468252,19117054,18974182,18840609,18393292,18337750,18288394,18196550,18029348,17371797,16997058,16782888,16710414,16418486,15788397,15741235,15542835,15489334,15378000,15056715,12771185,12477932,12360398,12135500,11989967,11930152,11856371,11814693,11470758,11429045,11377414,11267995,11237868,11136725,10669755,10617598,10341341,10200315,9828097,9712883,8891336,8663146,1713584,20553615,19728149 2289074,2289078,2289068,2289069,2289070,2289075,2289081 7832 AF361937,AL513326,CH471067,BC105948,BC105949,CR591042,CR595352,CR604962,CR606002,U72649,Y09943,NM_006763 NP_006754,AAL05626,CAH70451,EAW91475,EAW91476,AAI05949,AAI05950,AAB37580,CAA71074,P78543,ABZ92453 Hs.519162 MGC126063|MGC126064|PC3|TIS21 B-cell translocation gene 2|NGF-inducible anti-proliferative protein PC3|b-cell translocation gene 2, anti-proliferative|nerve growth factor-inducible anti-proliferative|pheochromacytoma cell-3|protein BTG2 protein-coding 733952 BTG3 BTG family, member 3 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9632145,19221000,18590053,17690688,16713569,16344560,15489334,12477932,11429045,11377414,10940556,10830953,9067576 10950 AK289408,AL049332,BC011957,BC028229,BF110486,BT007276,CR457061,CR590787,CR593770,CR598696,CR600061,CR602342,CR604425,CR607894,CR608349,CR618065,CR618737,CR620760,D64110,DA381239,DR155504,NM_006806,NM_001130914,AF200465,AP000432,AP000967,CH471079 EAX10028,EAX10029,BAF82097,AAH11957,AAP35940,CAG33342,BAA33788,Q14201,EAX10027,Q6IAU3,Q9UHB2,ABM82261,ABW03379,NP_006797,NP_001124386,AAF24345,EAX10026 Hs.473420 ANA|MGC8928|TOB5|TOB55|TOFA B-cell translocation gene 3|abundant in neuroepithelium area protein|protein BTG3|protein Tob5 protein-coding 1318793 BTG4 B-cell translocation gene 4 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq] 1580863 10995567,18519671,15672409,12477932,11429045,11267995,16709802,19576178,20309940 54766 NM_017589,AP002008,CH471065,AJ271351,BC031045,HC006790,HC044731 NP_060059,EAW67140,CAB69821,AAH31045,Q8NEH7,Q9NY30,ABM81904,ABM84644,CBH19201,CBH30695 Hs.128180 MGC33003|PC3B BTG family member 4|protein BTG4|protein PC3b protein-coding 1342660 BTK Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [provided by RefSeq] 1600526,1580863 8834236,8758136,8723128,8695804,8634718,8630736,8629002,8617237,8594569,8425221,8380905,8283037,8258324,8162056,8162018,8125298,8090769,8058772,7972043,7959728,7927535,7925280,7907259,7897635,7880320,7849721,7849697,7849006,7809124,7711734,7633429,7633420,7629518,7627183,7626884,7522330,2881637,1915549,9012831,8892607,12093870,11431473,16640565,10981967,12679936,19471023,8688094,19464057,8013627,19342689,19212330,19206206,19039656,19017959,18809383,18776760,18726917,18548107,18241233,18051214,18029348,18022864,17932028,17765309,17707910,17264076,16951917,16751014,16517732,16439361,16415872,16344560,16300960,16159644,16141323,15939795,15894173,15849198,15772651,15712380,15489334,15466623,15375214,11913944,11577348,15046600,15203319,15184383,15087455,15082835,15007095,14974089,14702039,14634110,14623887,14614850,12970174,12854903,12810683,12769846,12768435,12724322,12573241,12477932,12445832,12437073,12405164,12235133,12204007,12001708,11934902,11920564,11877742,11788586,11751885,11742120,11698416,11668622,11665629,11598012,11527964,11524430,11507089,11438999,11434777,11413148,11373296,11329620,11313464,11231015,11226282,11163197,10872802,10612838,10561498,10556826,10498607,10427990,10373551,10339589,10220140,10201980,10196129,10068673,9837922,9796816,9770463,9751072,9742969,9571151,9545398,9485443,9445504,9373149,9333013,9280283,9260159,9218782,9201297,9178903,9110171,9016530,15355990,16969585,17290227,17823121,19807924,19859091,19904586,19949111,20052711,20056178,20574453,19913121,20628086,20936779,20634142 1600526 695 NM_000061,NG_009616,AL035422,CH471115,L31572,U10087,U13433,U78027,AF153364,AF153755,AF153756,AF153757,AF153758,AF153759,AF153760,AF153761,AF153762,AF153763,AF153764,AJ888376,AJ888377,AJ888378,AJ888380,AK057105,AK225577,AK309851,AK314382,AM051275,AM051276,AM051277,AM051278,AM051279,AM051280,AM051281,AM051282,AM051283,AM051284,AM051285,AM051286,BC109080,DA619542,DB636737,X58957,BC109079 NP_000052,CAB55876,CAI42359,EAX02856,EAX02857,EAX02858,AAA61479,AAB60639,AAC51347,AAB64205,AAF61477,AAF37332,AAF37333,AAF37334,AAF37335,AAF37336,AAF37337,AAF37338,AAF37339,AAF37340,AAF37341,CAI59842,CAI59836,CAI59837,CAI59839,BAG51864,BAG37008,CAJ19681,CAJ19682,CAJ19683,CAJ19684,CAJ19685,CAJ19686,CAJ19687,CAJ19688,CAJ19689,CAJ19690,CAJ19691,CAJ19692,AAI09080,AAI09081,CAA41728,Q06187,Q3MS86,Q3MS87,Q3MS88,Q3MS89,Q3MS90,Q3MS91,Q3MS92,Q3MS93,Q3MS94,Q3MS95,Q3MS96,Q3MS97,Q572P1,Q572P3,Q572P4,Q572P5,Q5JY90,Q9NPI2,Q9NPI3,Q9P0L3,Q9P0L4,Q9P0L5,Q9P0L6,Q9P0L7,Q9P0L8,Q9P0M0 Hs.159494 AGMX1|AT|ATK|BPK|IMD1|MGC126261|MGC126262|PSCTK1|XLA B-cell progenitor kinase|OTTHUMP00000023677|agammaglobulinaemia tyrosine kinase|dominant-negative kinase-deficient Brutons tyrosine kinase|tyrosine-protein kinase BTK protein-coding 1350737 BTLA B and T lymphocyte associated BTLA expression is induced during activation of T cells, and BTLA remains expressed on Th1 cells but not Th2 cells. Like PD1 (MIM 600244) and CTLA4 (MIM 123890), BTLA interacts with a B7 homolog, B7H4.[supplied by OMIM] 1580863 14702039,12796776,14652006,12477932,10737800,20693422,19207938,19155498,17257317,17024343,16643847,16169851,16131544,15647361,15568026,15489334,16932752,19585237,19762537,19915044,20066438,20331378 151888 NM_001085357,NM_181780,AC092894,AA828425,AI792952,AJ717664,AK131204,AK292692,AW294080,AY293286,AY599411,AY606805,BC107091,BC107092,BE832323,CD702861,DQ198368 NP_001078826,NP_861445,CAG30680,BAD18396,BAF85381,AAP44003,AAT44901,AAV41229,AAI07092,AAI07093,ABA54407,Q400G7,Q7Z6A9 Hs.445162 BTLA1|CD272|FLJ16065|MGC129743 B and T lymphocyte attenuator|B- and T-lymphocyte attenuator|B- and T-lymphocyte-associated protein protein-coding 1315909 BTN1A1 butyrophilin, subfamily 1, member A1 Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq] 1580863 8611614,19084217,16498413,15489334,14574404,12477932,12456835,11170752,10429365,10376248,9382921,8132890,8114113,7775382,6830779,19531472,19596235 696 NM_001732,AL121936,CH471087,AA768577,AW977526,BC096312,BC096313,BC096314,BC096315,U39576 NP_001723,CAC16802,EAW55585,AAH96312,AAH96313,AAH96314,AAH96315,AAC50489,Q13410,Q4VAN1,Q4VAN2 Hs.153058 BT|BTN bK14H9.2 (butyrophilin, subfamily 1, member A1)|butyrophilin subfamily 1 member A1 protein-coding 1353022 BTN2A1 butyrophilin, subfamily 2, member A1 This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is an integral plasma membrane B box protein involved in lipid, fatty-acid and sterol metabolism. [provided by RefSeq] 9382921,17785817,14702039,14574404,12477932,11170752,9149941,17207965,16344560 11120 NM_007049,AL050330,AL121936,CH471087,NM_078476,U97495,U97496,U97497,AB209777,AK093886,AK297098,BC016661,BX538050,CR592580,CR609907,U90142,U90543,AW007668,DB265775,DC341201,DC348937,DC414685,NM_001197233,NM_001197234 NP_510961,NP_008980,CAB71221,CAC16801,EAW55577,EAW55578,EAW55579,EAW55580,EAW55581,EAW55582,AAC02653,AAC02654,BAD93014,BAG59611,AAH16661,CAD97989,AAC02650,AAB53421,Q59EN4,Q7KYR7,Q96AV7,Q9H459,ADQ31707,NP_001184162,NP_001184163 Hs.159028 BK14H9.1|BT2.1|BTF1|DJ3E1.1|FLJ36567 OTTHUMP00000214572|butyrophilin BTF1|butyrophilin subfamily 2 member A1 protein-coding 1315891 BTN2A2 butyrophilin, subfamily 2, member A2 Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type 1 receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. 15489334,14702039,14574404,12477932,12124930,11170752,10354554,9149941,19571809,15342556 10385 NM_006995,NM_181531,AL021917,AL832800,CH471087,AK123902,AK289883,BC013258,BC014021,BC017497,BI754184,U90550,AK293526,AK298570,AK304744,BP234194,DC373063,DC388932,NM_001197237,NM_001197238,NM_001197239,NM_001197240 NP_008926,NP_853509,CAC03425,EAW55561,EAW55562,EAW55563,EAW55564,EAW55565,BAF82572,AAH14021,AAH17497,AAB53428,Q8WVV5,BAG57008,BAG60763,BAG65503,NP_001184166,NP_001184167,NP_001184168,NP_001184169 Hs.373938 BT2.2|BTF2|FLJ41908 OTTHUMP00000214444|OTTHUMP00000214447|butyrophilin 2|butyrophilin subfamily 2 member A2 protein-coding 1346357 BTN2A3 butyrophilin, subfamily 2, member A3 1580863 20208008,16344560,14702039,14574404,12477932,11170752 54718 AK292658,BC143636,DA706324,DB133005,NR_027795,AL021917,CH471087,AK056871 BAB71298,BAF85347,Q96KV6,Q96MJ0,AAI66633,CAC69644,EAW55569,EAW55570,EAW55571 Hs.159028 pseudo 1346965 BTN3A1 butyrophilin, subfamily 3, member A1 1580863 9149941,16344560,15489334,14574404,12477932,11170752,9382921,9373149,8125298,16712791,19571809,20208008 11119 Y07827,NM_001145008,NM_001145009,NM_194441,AL021917,CH471087,AA977088,AK223474,AK290193,AK291162,AK295720,AK298652,AK299327,AK311233,BC065567,BC118586,BC121800,BG744194,BM147268,BM542639,BU178206,NM_007048,BU617041,CA309315,CB148209,CD110416,CR595855,DA044176,DC417480,T86577,U90552 AAB53430,CAA69164,O00481,CAM28245,CAO03580,NP_008979,NP_001138480,NP_001138481,NP_919423,CAC03424,EAW55566,EAW55567,BAD97194,BAF82882,BAF83851,BAG58563,BAG60824,BAG61334,AAI18587,AAI21801 Hs.191510 BT3.1|BTF5|CD277|MGC141880 butyrophilin subfamily 3 member A1|dJ45P21.3 (butyrophilin, subfamily 3, member A1) protein-coding 1346267 BTN3A2 butyrophilin, subfamily 3, member A2 This gene encodes a member of the immunoglobulin superfamily, containing two Ig domains with similarity to Ig variable and Ig constant domains. The gene resides in the juxta-telomeric region of the major histocompatability class 1 locus on chromosome 6 in the seven member BTN cluster, which includes butyrophilin, and three members each of the BTN2 and BTN3 subfamilies. Alternatively spliced transcript variants have been described but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 12124930,14702039,19295542,19204726,15489334,14574404,12477932,11170752,9382921,9149941,19571809 11118 NM_007047,AL021917,CH471087,U97499,U97502,AF257505,AK290880,AK299417,AK303600,AK312847,BC002832,BC020214,BC067086,CD686792,CD705662,CR626326,U90143,U90144,U90546,AK097330,NM_001197246,NM_001197247,NM_001197248,NM_001197249 NP_008978,CAA17277,EAW55557,EAW55558,EAW55559,EAW55560,AAC02655,AAC02656,AAF76140,BAF83569,BAG61399,BAG64615,BAG35700,AAH02832,AAH20214,AAC02651,AAC02652,AAB53424,P78409,P78410,Q7KYR6,NP_001184175,NP_001184176,NP_001184177,NP_001184178 Hs.376046 BT3.2|BT3.3|BTF4|FLJ40011 butyrophilin protein|butyrophilin subfamily 3 member A2 protein-coding 1349753 BTN3A3 butyrophilin, subfamily 3, member A3 1580863 15489334,15340161,14574404,12477932,11170752,10354554,9373149,9149941,8125298,20208008 10384 NM_197974,AL021917,CH471087,AB209581,AK223279,AK223301,AK291722,AK301553,BC015815,BT007251,CR618410,U90548,NM_006994,DC410234 Q53FK5,Q59F79,ABM83522,ABW03508,NP_008925,NP_932078,CAA17273,EAW55572,EAW55573,EAW55574,EAW55575,EAW55576,BAD92818,BAD96999,BAD97021,BAF84411,BAG63049,AAH15815,AAP35915,AAB53426,O00478,Q53FI5 Hs.167741 BTF3 OTTHUMP00000214539|butyrophilin 3|butyrophilin subfamily 3 member A3 protein-coding 1343392 BTNL1 butyrophilin-like 1 8114113,10803852 697 1353557 BTNL2 butyrophilin-like 2 (MHC class II associated) 19140834,19122664,19116923,19050377,18987644,18836448,17927685,17661910,17610417,17493147,17347014,17237401,17170388,16984233,16690410,16321988,16080124,15735647,15516930,12477932,10803852,20410501,20560297,20587610,20691797,19143814,19287509,19659809,19851445,19861958,19882345,19915573,19936222,20041166,20176143,20237496,20305777,20378664,20453000,19760754,21072187,20935629 56244 NM_019602,AF186588,AF186590,AF186593,AL034394,AL662796,AL670296,AL935032,AY881999,BX255945,CH471081,CR752644,CR753634,CR759773,CR759917,Z84814,AY684332,AY684333,BC119668,BC127641,BC127642,BX908732,CU019529 NP_062548,AAF05530,CAI42177,CAI42180,CAI18265,CAI17569,CAI17570,CAI18474,CAI18475,AAX35330,AAX35331,CAI18727,CAI41958,EAX03627,EAX03628,CAQ08220,CAQ08809,CAQ08810,CAQ06672,CAQ06673,CAQ06674,CAQ07561,CAQ07562,CAQ07563,CAC69895,AAV91022,AAV91023,AAI19669,AAI27642,AAI27643,Q5HYR5,Q9UIR0 Hs.534471 BTL-II|HSBLMHC1|SS2 OTTHUMP00000194895|butyrophilin-like protein 2 protein-coding 1350246 BTNL3 butyrophilin-like 3 10429365,12975309,12477932,16344560 10917 NM_197975,AC091874,CH471165,AB020625,AK025267,AY358385,BC100800,BC100801,BC100802,DA431389 NP_932079,EAW53729,EAW53730,BAA76664,AAQ88751,AAI00801,AAI00802,AAI00803,Q6UXE8 Hs.225949 BTNLR butyrophilin-like protein 3|butyrophilin-like receptor protein-coding 1348046 BTNL4 butyrophilin-like 4 444889 1345080 BTNL5 butyrophilin-like 5 444890 1344541 BTNL6 butyrophilin-like 6 444891 1347001 BTNL7 butyrophilin-like 7 444892 1351143 BTNL8 butyrophilin-like 8 16344560,15340161,14702039,12975309,12477932,9373149,8125298 79908 AK025111,NM_024850,NM_001159707,NM_001159708,NM_001159709,NM_001159710,AC022413,AC091874,CH471165,NM_001040462,AK225213,AK296597,AK298687,AK308012,AK309639,AY358523,BC119696,BC119697,DA425770 NP_001035552,NP_079126,NP_001153179,NP_001153180,NP_001153181,NP_001153182,EAW53732,EAW53733,BAB15069,BAH12395,BAH12847,AAQ88887,AAI19697,Q6UX41 Hs.189109 FLJ21458|FLJ51528|MGC149619 B7-H5 costimulatory molecule|OTTHUMP00000221845|OTTHUMP00000221846|OTTHUMP00000221848|butyrophilin-like protein 8 protein-coding 1353775 BTNL9 butyrophilin-like 9 15489334,14702039,12975309,12477932 153579 NM_152547,AC008620,AC091874,CH471165,CQ789638,AK057097,AK298113,AL833663,AY358358,BC029040,BC042112,BC062459,DC379841 NP_689760,EAW53724,EAW53725,EAW53726,EAW53727,EAW53728,CAG24379,BAB71365,BAH12724,AAQ88724,AAH29040,AAH42112,AAH62459,Q6UXG8,Q8N324 Hs.546502 BTN3|VDLS1900 OTTHUMP00000082751|butyrophilin 3|butyrophilin-like protein 9 protein-coding 1347748 BTRC beta-transducin repeat containing This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. This protein is homologous to Xenopus bTrCP1, yeast Met30, Neurospora Scon2 and Drosophila Slimb proteins. It interacts with HIV-1 Vpu and connects CD4 to the proteolytic machinery. It also associates specifically with phosphorylated IkappaBalpha and beta-catenin destruction motifs, probably functioning in multiple transcriptional programs by activating the NF-kappaB pathway and inhibiting the beta-catenin pathway. [provided by RefSeq] 2293188,1580863 10835356,10828603,10803460,10713156,10644755,10564661,16385451,16885021,16885022,17327410,17500058,17510365,18521620,19478868,10531035,10514424,10331953,10228155,10072378,9990852,8889548,16354571,17121803,18296647,18617892,18765672,12609982,11158290,14743216,15782160,14673179,15448698,16219772,16798748,16865698,19297328,19966869,20625400,20852628,20516151,9859996,12791267,9990853,9660940,12820959,15469984,19372209,19240121,19150432,19106159,19061640,18650423,18460583,18378770,18372914,18354483,18354482,18316598,18052253,17965458,17491012,17387146,17319651,17295679,17217622,17053147,16757476,16705181,16691619,16651270,16371461,16303288,16189514,16165251,15927956,15917222,15735746,15489334,15340078,15070733,14988407,14676825,14603323,14561767,14526201,12902344,12482991,12477932,12151397,12124804,12114015,12077367,12037680,11994270,11850407,11818547,11696595,11359933,11278695,10983987,10918611,19515779,19557001,19615732,19797085,19822658,19931512,20048001,20102634,20378537,20379614,20503246,15647282,15798217,15855639,15966899,20844743,15140882,15314162,20736409,19411070,20140206,20708156 2293188 8945 NM_003939,NG_009234,AL133387,AL445463,AL627424,AL833133,CH471066,AA824369,AF101784,AF129530,AK295870,AK313353,AK313417,NM_033637,AL707686,BC006204,BC027994,BC063673,BQ188694,BX389753,CR749295,Y14153,AK314880,GU727631 NP_378663,NP_003930,CAH70019,CAH70020,CAI12962,CAI12963,CAI12964,CAI41042,CAI41043,EAW49770,EAW49771,EAW49772,EAW49773,EAW49774,AAD08702,AAF04464,BAH12210,BAG36155,BAG36210,BAG37395,AAH27994,CAH18150,CAA74572,Q5T1W7,Q5W141,Q68DS0,Q86WI5,Q9Y297,ADU87633 Hs.643802 BETA-TRCP|FBW1A|FBXW1|FBXW1A|FWD1|MGC4643|bTrCP|bTrCP1|betaTrCP E3RSIkappaB|F-box and WD repeats protein beta-TrCP|F-box/WD repeat-containing protein 1A|beta-TrCP1|pIkappaBalpha-E3 receptor subunit protein-coding 1349027 BTS1 bladder tumor susceptibility 1 619606 619606 698 1323304 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) This gene encodes a kinase involved in spindle checkpoint function. The kinase functions in part by phosphorylating a member of the miotic checkpoint complex and activating the spindle checkpoint. Mutations in this gene have been associated with aneuploidy and several forms of cancer. [provided by RefSeq] 1600539,1580863 17488820,11999574,17388661,17210994,17158872,16760428,16525682,16449967,16189514,16046481,15933723,15931389,15818396,15723797,15604152,15525512,15489334,15342556,15013707,14702039,12782591,12655561,12477932,12419313,12375025,12096343,15020684,17227893,17981135,18029348,19465021,20468071,9790499,9660858,19487456,19252416,19242126,19182530,19141287,19015261,18995837,18922873,18791270,18547097,18383837,18036341,17925231,17620410,17617734,11792804,11782350,11352911,11283619,11134360,10969775,10366450,10198256,9914370,9521327,9441741,9373149,8125298,15388328,20929775,20660191,20628624 1600539 699 NG_012048,AC114776,AC226101,AF139363,AF264055,CH471237,AF011387,AF043294,AF046078,AF047471,AF053305,AI635394,AK023540,AK225317,AK291221,AK302418,BC017038,BC028201,BP313176,DB453210,NM_004336,HC250947,HC311136 O43683,NP_004327,AAY14706,AAD43675,AAK29549,EAW50355,AAC39546,AAB97855,AAC12729,AAC03122,AAC06259,BAF83910,BAG63724,AAH17038,AAH28201,Q53QE4,Q9BXX5,CBJ05771,CBJ21223 Hs.469649 BUB1A|BUB1L|hBUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog|OTTHUMP00000204239|mitotic checkpoint serine/threonine-protein kinase BUB1|mitotic spindle checkpoint kinase|putative serine/threonine-protein kinase protein-coding 1316316 BUB1B budding uninhibited by benzimidazoles 1 homolog beta (yeast) This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq] 1580863,1600540,2326105,2324871 9763420,11285280,10477750,14593737,15504738,11535616,11742988,19154722,19139432,19139399,19117984,18932004,18710370,18699967,18691855,18547097,18440313,18286482,17676298,17498870,17478512,17464181,17376779,17350465,17268814,17210994,16411201,16227576,16144904,15592459,15475955,15190214,14706340,14576821,12477932,12445743,12419313,12388768,11907259,11792804,11782350,11702782,11283619,11274370,19015317,11256614,11129339,11030144,10749118,10593653,10366450,20516114,20189264,20459534,9914370,9889005,9660858,9618306,9521327,12196507,15388328,15525512,12925705,16760428,17227893,17363900,17443186,17981135,18997788,19074885,19407811,19411850,19465021,19468067,19503101,19550118,19603021,19745606,19789190,19926498,20132214,20204288,20453000,9482735 1600540,2326105,2324871 701 NM_001211,AC025429,AF310214,AF441125,CH471125,AB208782,AF035933,AF046079,AF046918,AF053306,AF068760,AF107297,AI742619,AK296795,AK296984,AK312709,AL597325,BC018739,NG_016338 NP_001202,AAL10712,EAW92394,BAD92019,AAC23736,AAC12730,AAC33435,AAC06260,AAC19118,AAD11941,BAG59371,BAG59525,BAG35587,AAH18739,O60566 Hs.513645 BUB1beta|BUBR1|Bub1A|MAD3L|SSK1|hBUBR1 MAD3/BUB1-related protein kinase|mitotic checkpoint kinase MAD3L|mitotic checkpoint serine/threonine-protein kinase BUB1 beta protein-coding 1315390 BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 10198256,19615732,20734064,11283619,11285280,9660858,14593737,11535616,11742988,18029348,19182530,18199686,17289665,17268814,15796961,15635413,15489334,15388328,15342556,15302935,12762840,12477932,12242018,12217960,12011073,11129339,10828586,10366450,11352911,12419313,15525512 9184 BX647392,CR615326,NM_004725,NM_001007793,AC012391,CH471066,AF047472,AF047473,AF053304,AF081496,AK293255,AK307958,AK312546,BC005138,BC022438,BM989334,BP328027,BU932619 O43684,ABM82778,ABM85968,NP_004716,NP_001007794,EAW49284,EAW49285,EAW49286,EAW49287,AAC28438,AAC28439,AAC06258,AAC36307,BAG56787,BAG35444,AAH05138,AAH22438 Hs.418533 BUB3L|hBUB3 BUB3 budding uninhibited by benzimidazoles 3 homolog|OTTHUMP00000020682|budding uninhibited by benomyl|mitotic checkpoint component|mitotic checkpoint protein BUB3 protein-coding 1606207 BUD13 BUD13 homolog (S. cerevisiae) 19010793,18193046,18193044,16344560,15302935,12477932,21160409,9373149,8889548,8125298,19656773,20442857,20838585,20864672,20571754 84811 NM_032725,NM_001159736,AP006216,CH471065,AK057832,AK130600,AK225164,AK289635,AK291111,AK311068,BC006350,BU731866,CA432582,CR600270,CR619032,DA042987 NP_116114,NP_001153208,EAW67265,EAW67266,BAB71593,BAF82324,BAF83800,AAH06350,Q9BRD0,ABM83689,ABM86992 Hs.437341 FLJ27090|MGC13125|fSAP71 BUD13 homolog|functional spliceosome-associated protein 71 protein-coding 1604400 BUD31 BUD31 homolog (S. cerevisiae) 7841202,15489334,12853948,12690205,12477932 8896 AC004922,CH236956,CH471091,AK297784,AK316477,BC022821,BC104670,CR456951,CR589984,CR611044,CR622746,CR624167,CR626368,S77329,NM_003910,U11861 NP_003901,EAL23881,EAW76670,EAW76671,EAW76672,EAW76673,BAH12665,BAH14848,AAH22821,AAI04671,CAG33232,AAB33291,AAA20008,P41223 Hs.380233 EDG-2|EDG2|G10|MGC111202|YCR063W|fSAP17 G10 maternal transcript homolog|OTTHUMP00000206249|OTTHUMP00000206250|functional spliceosome-associated protein 17|maternal G10 transcript|protein BUD31 homolog|protein EDG-2|protein G10 homolog protein-coding 1344210 BVES blood vessel epicardial substance This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1302855,1580863 20546612,10441744,18391951,18349282,15489334,12477932,10882522,16188940,19448622,17207965,20627872 1302855 11149 NM_007073,NM_147147,AL356775,CH471051,Z95329,AF204172,AK289979,BC034425,BC040502,NM_001199563 NP_009004,NP_671488,CAI13619,CAI13620,EAW48430,EAW48431,EAW48432,AAG23405,BAF82668,AAH34425,AAH40502,Q8NE79,CAI21662,ADQ32332,NP_001186492 Hs.221660 HBVES|MGC42413|POP1|POPDC1 blood vessel epicardial substance|popeye domain containing 1|popeye domain-containing protein 1|popeye protein 1 protein-coding 1347250 BVR1 Burkitt lymphoma variant rearranging region 1 700 M16601 1315787 BXDC1 brix domain containing 1 1580863 17353931,19170763,15635413,15489334,14702039,12477932,12429849,12048200,19615732,17207965 84154 NM_032194,AL357515,CH471051,AK024740,AK292165,AK301662,AL833613,BC005347,BC035314 NP_115570,CAH73394,CAH73395,CAH73396,EAW48301,EAW48302,EAW48303,EAW48304,BAB14983,BAF84854,BAG63137,AAH35314,Q5VXN0,Q9H7B2,ADQ31673 Hs.372265 BXDC1|FLJ21087|RPF2|bA397G5.4 OTTHUMP00000017010|OTTHUMP00000017011|brix domain containing 1|brix domain-containing protein 1|homolog of Rpf2|ribosomal processing factor 2 homolog|ribosome biogenesis protein RPF2 homolog|ribosome production factor 2 homolog protein-coding 1349883 BXDC1P brix domain containing 1 pseudogene 11780052 729608 NG_009525,AL357374 BXDC1P|C20orf53|bA353C18.4 pseudo 1605358 BXDC2 brix domain containing 2 17353931,15489334,14702039,12477932,11843177,11790298,16169070 55299 NM_018321,AC026801,CH471119,AF347667,AK001962,AK289610,AK307492,AY364243,AY364244,BC001546,BC006014,BC036741,BX648902,CR593646,CR622822,AK303311 NP_060791,EAW55909,EAW55910,AAL83818,BAA92003,BAF82299,AAQ76802,AAQ76803,AAH01546,AAH06014,AAH36741,Q8TDN6,Q9NUW4,ABM83034,ABM86228,BAG64380 Hs.718510 BRIX|BXDC2|FLJ11100 brix domain containing 2|brix domain-containing protein 2|ribosome biogenesis protein BRX1 homolog protein-coding 1602209 BXDC5 brix domain containing 5 12429849,16710414,15489334,14702039,12477932,11864606,11790298,17207965 80135 NM_025065,AK022537,AL359584,BC016051,CR593992,CR605940,CR626665,CR627468,AL359762,AL844170,CH471097,AA761809,AF322053 NP_079341,AAL37236,BAB14086,CAH10671,AAH16051,CAH10670,Q9H9Y2,CAH70204,CAH71914,CAH71915,EAW73237,ADQ31725 Hs.481202 BXDC5|DKFZp761G0415|DKFZp761M0215|FLJ12475|RP11-118B23.1|RPF1 2310066N05Rik|RNA processing factor 1 (RPF1)|brix domain containing 5|brix domain-containing protein 5|ribosome biogenesis protein RPF1|ribosome production factor 1 protein-coding 1352999 BYSL bystin-like Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. 1580863,2316201 18029348,21048031,9560222,17917702,17381424,17081983,15489334,14633596,12477932,10026108,9925933,16189514,16713569,19820697,19862010,20139978 2316201 705 NM_004053,AL160163,CH471081,AK314147,BC007340,BC050645,BC062627,CR590222,CR590918,CR600573,CR604574,CR613680,CR620662,CR621938,CR624209,L36720 NP_004044,CAI23489,EAX04069,AAH07340,AAH50645,AAH62627,AAC16603,Q13895,Q5T8J2,ABM83840,ABM87162 Hs.106880 BYSTIN by the ribosomal protein s6 gene, drosophila, homolog-like|bystin protein-coding 1346920 BZRAP1 benzodiazapine receptor (peripheral) associated protein 1 1302420,1580863 9915832,15489334,12477932,9734811,19557195,17855024 1302420 9256 NM_024418,NM_004758,AC004687,CH471109,AB014512,AF039571,BC031401,BC146852,BC150279,BC171787,BE246483,BX648763,CR597762 NP_077729,NP_004749,EAW94468,EAW94469,BAA31587,AAD11957,AAH31401,AAI46853,AAI50280,AAI71787,O95153 Hs.112499 DKFZp686F02123|KIAA0612|PRAX-1|PRAX1|RIM-BP1|RIMBP1 PBR-IP|RIMS-binding protein 1|peripheral benzodiazepine receptor-associated protein 1|peripheral benzodiazepine receptor-interacting protein|peripheral-type benzodiazepine receptor-associated protein 1 protein-coding 1606125 BZRPL1 benzodiazapine receptor (peripheral)-like 1 18636124,18676680,12477932,19625176,19729679,20379614 222642 NM_001010873,NM_001159726,AL031778,CH471081,CS072422,AI052224,BC104440,BC104441,BC137560,BC137565,BC144710,BU655765,BU657409 NP_001010873,NP_001153198,CAB44739,EAX04008,CAI93560,AAI04441,AAI04442,AAI37561,AAI37566,AAI44711,Q5TGU0 Hs.357392 BZRPL1|MGC129806|MGC129807 benzodiazapine receptor (peripheral)-like 1|peripheral-type benzodiazepine receptor-like protein 1|translocator protein 2 protein-coding 1347888 BZW1 basic leucine zipper and W2 domains 1 1302740 19446954,17353931,10942595,17081983,16964243,15815621,15489334,14702039,12477932,11524015,10964520,9373149,8125298,7584028,7584026,11101529 1302740 9689 NM_014670,AC007163,CH471063,AB074176,AK096489,AK223245,AK297227,AK301511,AL833518,BC001804,BC026303,CR624660,D13630,Z70221 NP_055485,AAX93286,EAW70212,EAW70213,BAE45739,BAG53303,BAD96965,BAG59710,BAG63019,AAH01804,AAH26303,BAA02795,CAA94180,Q3LIC9,Q53FN7,Q7L1Q6,ABM84154,ABM87556 Hs.355983 BZAP45|KIAA0005|Nbla10236 OTTHUMP00000206080|OTTHUMP00000206082|OTTHUMP00000206083|OTTHUMP00000206086|basic leucine zipper and W2 domain-containing protein 1|basic leucine-zipper protein BZAP45|protein Orf|putative protein product of Nbla10236 protein-coding 2298828 BZW1L1 basic leucine zipper and W2 domains 1 like 1 16641997 151579 AC108687,NG_022890 BZW1L1 pseudo 2301778 BZW1P1 basic leucine zipper and W2 domains 1 pseudogene 1 391592 NG_008827,AC069523 pseudo 731291 BZW2 basic leucine zipper and W2 domains 2 17353931,17081983,15635413,15489334,14702039,12853948,12690205,12477932,11042152,19913121,20628086,20379614 28969 CR616185,CR617428,CR617662,CR618505,CR618517,CR619763,CR620073,CR621525,CR622891,CR622998,CR623406,NM_014038,NM_001159767,NR_027624,AC073201,AC073333,CH471073,AF083246,AF110323,AK001218,AK001260,AK027837,AK297496,AK300655,BC001570,BC003056,BC008453,BC009597,BC017794,BC051898,BC107757,CR596038,CR596875,CR597590,CR598771,CR602535,CR603998,CR605115,CR605773,CR605808,CR606506,CR608637,CR611204,CR613733,CH236948 Q05D83,Q75MG1,Q96JW5,Q9Y6E2,ABM83422,ABM86634,NP_054757,NP_001153239,AAS07544,EAL24285,EAW93675,EAW93676,EAW93677,EAW93678,EAW93679,AAD39844,AAG39278,BAA91562,BAG50880,BAB55401,BAH12594,BAH13321,AAH03056,AAH08453,AAH09597,AAH17794,AAI07758 Hs.487635 HSPC028|MST017|MSTP017 OTTHUMP00000201712|OTTHUMP00000201748|OTTHUMP00000201749|basic leucine zipper and W2 domain-containing protein 2|hfb2 protein protein-coding 1352536 C10orf10 chromosome 10 open reading frame 10 The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq] 16344560,16189514,16123073,15977181,15489336,15489334,15164054,14702039,12477932,11230166,20822508,20877624,11256614,16713569,16381901,11076863,19937567,16385451 11067 NM_007021,AL353801,CH471160,AB022718,AB025244,AK002191,AK098476,AK300839,AK312496,AL136653,BC011402,CR592377,CR592827,CR614092,CR616425,CR617524,CR618606,CR623526,CR624673,DB030770 NP_008952,CAI13065,CAI13066,EAW86629,BAA74504,BAC87794,BAG51027,BAG62490,BAG35398,CAB66588,AAH11402,Q9NTK1,CAL38369,ABM82987,ABM86180 Hs.93675 DEPP|FIG OTTHUMP00000019497|decidual protein induced by progesterone|fasting induced|fasting-induced gene protein|fasting-induced protein|protein DEPP protein-coding 1346550 C10orf100 chromosome 10 open reading frame 100 414242 1344061 C10orf101 chromosome 10 open reading frame 101 414243 1353488 C10orf102 chromosome 10 open reading frame 102 414244 AC022400 RP11-574K11.12 chromosome 10 open reading frame 102 protein-coding 1350903 C10orf103 chromosome 10 open reading frame 103 12477932 414245 BC043233 Hs.661857 bA537A6.3 protein-coding 1345646 C10orf104 chromosome 10 open reading frame 104 737633 15489334,15164054,14702039,12477932,18851979,19232044,20360068 737633 119504 NM_173473,AL607035,CH471083,AI038150,AK023981,BC009530,BF975718,CD724246,CR598398,CR607060,CR615306,CR618642,CR625345,EU552924 NP_775744,CAI15909,EAW54448,EAW54449,EAW54450,EAW54451,AAH09530,ACD68153,Q96DE5 Hs.426296 APC16|C10orf104|FLJ33728|MSAG|bA570G20.3 anaphase-promoting complex subunit 16|cyclosome subunit 16|metabolic syndrome-associated protein protein-coding 1346064 C10orf105 chromosome 10 open reading frame 105 12477932 414152 NM_001164375,AL731541,CH471083,AK074172,AK123442,BC071608,BF508486,NM_001168390 NP_001157847,CAI40840,EAW54433,BAB84998,Q8TEF2,NP_001161862 Hs.568788 FLJ00245 hypothetical protein LOC414152 protein-coding 1353258 C10orf106 chromosome 10 open reading frame 106 414246 1315529 C10orf107 chromosome 10 open reading frame 107 737633 19430483,15489334,12477932,17207965,20852445,21045733,20542020,16385451,20379614 737633 219621 NM_173554,AC022398,AL451049,CH471083,BC041932 NP_775825,CAI16227,CAI16228,EAW54221,EAW54222,EAW54223,EAW54224,AAH41932,Q8IVU9,ADQ32480 Hs.673160 MGC44593|bA63A2.1 hypothetical protein LOC219621 protein-coding 1347405 C10orf108 chromosome 10 open reading frame 108 16344560,15164054,14702039,12477932 414235 BC042561,DA621677,NR_027152,NR_027151,AL358216,CH471072,AA877122,AK096000,AK096013,AK296168 Q8N8Z3,CAH69849,CAH69850,EAW86533,EAW86534,BAC04668,BAC04673,BAG58906 Hs.587103 FLJ38681 miscrna 1321229 C10orf11 chromosome 10 open reading frame 11 16964243,14702039,16385451,19844253,20379614 83938 NM_032024,AC012047,AC012048,AC013286,AC024603,AL136451,AL607027,AL731568,CH471083,AF267860,AK125328 NP_114413,CAH73047,EAW54585,EAW54586,EAW54587,AAG44729,Q9H2I8 Hs.118161 CDA017 leucine-rich repeat-containing protein C10orf11 protein-coding 1353147 C10orf110 chromosome 10 open reading frame 110 12477932,10931946 55853 NR_024628,NR_024629,NR_027708,NR_027709,AC022536,AF291755,CH471072,AF220183,AK314921,BC018729,BC050694,BC104155,BC104156,BC112975,BC112976,BF724542 AAK29359,EAW86522,EAW86523,EAW86524,AAF67648,Q9BXS2,Q9NZ38 Hs.644603 C10orf110|HT009|IDI2-AS miscrna 1343828 C10orf111 chromosome 10 open reading frame 111 737633 15489334,15164054,12477932 737633 221060 NM_153244,AL590365,AK314131,BC029034,BC036401 NP_694976,CAH73966,BAG36821,AAH29034,Q8N326 Hs.567777 MGC35468|bA455B2.4 hypothetical protein LOC221060 protein-coding 1346421 C10orf112 chromosome 10 open reading frame 112 19103277,16344560,11329013,19591129,20062062,20379614 340895 XM_295865,XM_939359,XM_001716843,AL157895,AL354695,AL391992,AL589943,AK297683,BG192521,DB087413,AL590378 XP_295865,XP_944452,XP_001716895,BAG60043,Q5VYJ5 Hs.646734 FLJ60310|bA265G8.2 MAM and LDL-receptor class A domain-containing protein C10orf112|OTTHUMP00000209453|novel MAM domain containing protein protein-coding 1606384 C10orf113 chromosome 10 open reading frame 113 12477932,15164054 387638 AI806552,BC144447,NM_001177483,NM_001010896,AL158160,BC140744 NP_001170954,NP_001010896,CAH70812,AAI40745,Q5VZT2,Q96S00 Hs.664110 bA165O3.1 putative uncharacterized protein C10orf113 protein-coding 1348766 C10orf114 chromosome 10 open reading frame 114 16344560,15164054,12477932 399726 NM_001010911,AL358780,CH471072,BC040880,BC130594,BC132974,CR596294,DA401077 NP_001010911,CAI13977,EAW86170,AAI30595,AAI32975,Q5T4H9 Hs.315568 bA418C1.3 putative uncharacterized protein C10orf114 protein-coding 1351499 C10orf115 chromosome 10 open reading frame 115 387642 Q5QP74 XM_370536,XM_939676,AL139281,CH471072 XP_370536,XP_944769,CAI12669,EAW86130,Q5QP74 Hs.132442 bA215C7.4 protein-coding 1348184 C10orf116 chromosome 10 open reading frame 116 APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq] 737633 15489334,19444912,19204726,12477932,8619847,16341674 737633 10974 NM_006829,AL136982,CH471142,AI401530,AK312031,BC004471,BM789611,BM850559,CD722742,D45370 NP_006820,CAI17116,CAI17117,EAW80313,BAG34968,AAH04471,BAA08226,Q15847,Q5TBU5 Hs.642660,Hs.714477 APM2|RP11-96C23.4 adipose specific 2 protein-coding 1316183 C10orf118 chromosome 10 open reading frame 118 737633,1299549 16381901,15489336,15489334,14702039,12783626,12477932,11230166,11076863,20936779,14996095 737633,1299549 55088 NM_018017,AC022023,AF273054,AI143965,AK001050,AK024739,AK057508,AK092620,AK094498,AK307517,AL834368,BC020842,BC022229,BC030557,BC070368,BC100670,BC103499,BC103504,BC105632,BC107430,BC152306,BK001329,BX537964,BX643041 NP_060487,AAM44457,BAA91480,BAG51924,BAC03926,CAD39031,AAH22229,AAH70368,AAI00671,AAI03500,AAI05633,AAI07431,AAI52307,DAA01463,CAD97928,Q3B7W4,Q496Y1,Q7Z3E2,Q8WW61,CAL37501,AAH20842 Hs.159066,Hs.603328 FLJ10188|FLJ35301|MGC118918|MGC129699 CTCL tumor antigen L14-2|OTTHUMP00000020520 protein-coding 1315515 C10orf119 chromosome 10 open reading frame 119 DNA replication is a carefully orchestrated process involving many proteins that assemble at origins of replication. Among these are the 6 proteins of the minichromosome maintenance (MCM) complex (e.g., MCM2; MIM 116945), which form a hexamer. Each MCM subunit performs an essential function in initiation and elongation of DNA replication. MCMBP can replace MCM2 in the MCM complex, thus forming an alternative MCM hexamer (Sakwe et al., 2007 [PubMed 17296731]).[supplied by OMIM] 737633 20562859,17296731,16964243,16189514,15489334,15146197,14702039,12477932,16385451,19615732,20090939 737633 79892 NM_024834,AC027672,CH471066,AA292620,AK001928,AK023143,AK094075,BC000935,BC004183,BC007219,CN259319,CR457299,CR609239 NP_079110,EAW49375,EAW49376,EAW49377,EAW49378,BAB14427,BAG52809,AAH00935,AAH04183,AAH07219,CAG33580,Q9BTE3 Hs.124246 C10orf119|FLJ13081|FLJ36756|MCM-BP|MCMBP MCM-binding protein|chromosome 10 open reading frame 119|minichromosome maintenance complex binding protein|minichromosome maintenance complex-binding protein protein-coding 1323299 C10orf12 chromosome 10 open reading frame 12 16189514,15489334,15164054,14702039,12477932 26148 NM_015652,AL442123,AK023084,AK025166,AK126886,AL049938,BC024315,BC031482 NP_056467,CAH70916,BAB14396,CAB43214,AAH24315,AAH31482,Q8N655 Hs.14555,Hs.427927 DKFZp564P1916|FLJ13022 hypothetical protein LOC26148 protein-coding 1604915 C10orf120 chromosome 10 open reading frame 120 15489334,15164054,12477932 399814 NM_001010912,AL731543,CH471066,BC065903,BC140922 NP_001010912,CAI13357,CAI13358,EAW49307,AAI40923,Q5SQS8,Q5SQS9 Hs.363649 bA318C4.1 OTTHUMP00000020666|hypothetical protein LOC399814 protein-coding 1352588 C10orf122 chromosome 10 open reading frame 122 15489334,15164054,12477932,20379614,20708005 387718 NM_001128202,AL158835,AL805915,AA977508,AK131010,BC062717,BC127766,BC127767,CR611441 NP_001121674,CAH73213,AAH62717,AAI27767,AAI27768,Q5VZQ5 Hs.148259 FLJ27500|MGC157877|MGC157878|bA383C5.1 putative uncharacterized protein C10orf122 protein-coding 1343385 C10orf123 chromosome 10 open reading frame 123 414258 AL392043,AL691429 CAI39951 bA288G11.5 protein-coding 1345714 C10orf124 chromosome 10 open reading frame 124 440012 AL691429 CAI17262 bB137A17.2 protein-coding 1322512 C10orf125 chromosome 10 open reading frame 125 15146197,12477932,16385451,17602138,19524593 282969 NM_198472,NM_001098483,AL360181,CH471211,AK129527,AK310070,BC129818,BC129819,BX119427,CN368132 NP_940874,NP_001091953,CAH70284,CAH70285,EAW61337,EAW61338,BAC85178,AAI29819,AAI29820,A2VDF0 Hs.155823 FLJ26016|FUCU|MGC149258 OTTHUMP00000020801|OTTHUMP00000020802|fucose mutarotase|protein fucU homolog protein-coding 1344407 C10orf128 chromosome 10 open reading frame 128 737633 12477932 737633 170371 NM_001010863,AC084727,AL441885,CH471187,BC031641,BC037922,BC042857,BC047724,BC104438,BC104439,CR607332,CR618023,CR624206,DQ884399,AL832399 NP_001010863,CAI12987,CAI12988,CAI12990,EAW93107,EAW93108,EAW93110,ABI63366,Q5T292 Hs.385493 OTTHUMP00000019573|OTTHUMP00000019574|putative uncharacterized protein C10orf128 protein-coding 1344514 C10orf129 chromosome 10 open reading frame 129 12477932,16385451 142827 CH471066,NM_207321,AL157834,AK126134,BC063654,BC104210,BC104211,BC112988,BC148184 NP_997204,CAH72344,EAW50014,BAC86458,AAH63654,AAI04211,AAI04212,AAI12989,Q6P461 Hs.134229 ACSM6|bA310E22.3 AMP-binding enzyme|OTTHUMP00000020136|acyl-coenzyme A synthetase ACSM6, mitochondrial protein-coding 1346015 C10orf131 chromosome 10 open reading frame 131 15164054 100127889 NM_001130446,AL356155,AL365273,AL513355,AK294399 NP_001123918,CAI16400,CAH71690,BAG57652,A6NCD4 Hs.719076 FLJ10895|bA690P14.3 hypothetical protein LOC100127889 protein-coding 1354019 C10orf133 chromosome 10 open reading frame 133 414267 1351322 C10orf134 chromosome 10 open reading frame 134 387712 XM_003118956,XM_003119472,XM_003120660,XM_370577,XM_001721847,XM_939821,AC023283,BX647301 XP_003119004,XP_003119520,XP_003120708,XP_370577,XP_001721899,XP_944914,A6NNW6 Hs.696001 AC023283.3|C10orf134|DKFZP781N1041 enolase family member 4|enolase-like protein ENO4 protein-coding 1347268 C10orf135 chromosome 10 open reading frame 135 338617 1344034 C10orf136 chromosome 10 open reading frame 136 12477932,17634449 414260 NR_033923,AL139237,BC017939 CAH70844,Q5W0B8 Hs.351856 bA168P8.1 miscrna 1322314 C10orf137 chromosome 10 open reading frame 137 737633 18763094,20379614,15489334,14702039,12609092,12477932,18726394,18759052,20589678 737633 26098 NM_015608,AL158835,CH471066,AF040247,AK025270,AK091507,AK314958,AL050102,BC016903,BC026172,BC028715,BC029650,BC105929,BC107479,BC107896,BX648348,NM_001202438 NP_056423,CAH73214,CAH73216,CAH73217,CAH73218,EAW49231,EAW49232,EAW49233,EAW49234,EAW49235,EAW49236,AAC00001,BAB15100,BAG37462,CAB43273,AAH26172,AAI05930,AAI07480,O43599,Q3B7T1,Q5VZQ0,Q5VZQ1,Q9H700,Q9UHT2,NP_001189367 Hs.468688 EDRF1|MGC125705|RP11-383C5.6 OTTHUMP00000020707|erythroid differentiation-related factor 1 protein-coding 1352264 C10orf138 chromosome 10 open reading frame 138 414234 1351198 C10orf14 chromosome 10 open reading frame 14 15164054 414171 1606383 C10orf140 chromosome 10 open reading frame 140 16344560,7829101,19913121,20628086 387640 NM_207371,AL358780,CH471072,AB234866,AK127130,AK131456,AL834446,BC142633,BI497298,DB320086 Q6ZSV4,AAI56042,NP_997254,CAI13978,EAW86167,BAE93016,BAC86842,BAD18601,CAD39106,Q1XH10 Hs.350848 DKFZp761J229|DLN-1|FLJ45187 protein DLN-1 protein-coding 2290515 C10orf141 chromosome 10 open reading frame 141 12477932 642938 NM_001039762,AL390920,AK127465,BC131825,BC137112,BC144478 NP_001034851,BAC86991,AAI31826,AAI37113,AAI44479,Q6ZSG2 Hs.613882 C10orf141|FLJ45557 hypothetical protein LOC642938 protein-coding 1343867 C10orf18 chromosome 10 open reading frame 18 737633 16189514,14702039,12477932,9373149 737633 54906 AL596094,AB095927,AK000367,AK022966,NM_017782,AK024762,AK027014,AK091392,AK095469,AK128051,AK128055,AK128151,AK128211,AK225352,AK309877,AL832762,BC001759,BC016688,BC020304,BC071976,BC110339,BX649177,CR592483,CR936780,AL365356,NG_021250 CAH72616,CAH72617,CAI13367,CAI13368,BAC23103,BAA91115,NP_060252,BAB14336,BAB14993,BAB15627,BAC87251,AAH01759,AAH71976,AAI10340,Q5VWN6,Q6IPC8,AAI66686 Hs.691375,Hs.432548 DKFZp781E1986|FLJ20360|bA318E3.2 OTTHUMP00000019009|hypothetical protein LOC54906 protein-coding 1348451 C10orf25 chromosome 10 open reading frame 25 16344560,16385451,15164054,14702039,12477932 220979 AK311351,DA772947,DR005042,NM_001039380,AL353801,CH471160,AK055129,BC062568,BC130369,BC130395 ADR82803,NP_001034469,CAI13067,EAW86630,EAW86631,BAB70858,AAI30370,AAI30396,Q5T742 Hs.655124 FLJ18393|FLJ30567 hypothetical protein LOC220979 protein-coding 1314041 C10orf26 chromosome 10 open reading frame 26 16709928,16344560,15489334,15164054,14702039,12934113,12477932,9110174,8619474,16712791,16385451 54838 BC114465,BE207569,BI601510,BQ924256,CB130248,CF455358,CR591598,CX163170,DA797839,NM_001083913,NM_017787,AL358790,AL391121,CH471066,AF070644,AK000161,AK000374,AK056285,AK300871,AK308843,AK316452,AU253840,AY656171,AY656172,AL353727,AY656174,AY656175,BC010506,BC063659,BC073886,BC113857 AAI14466,Q1EG67,Q1EG68,Q1EG69,Q9NX94,Q9NXM7,NP_001077382,NP_060257,CAI52496,EAW49673,EAW49674,BAA90983,BAA91122,BAG51666,BAH13363,BAH14823,AAV68559,AAV68560,AAV68561,AAV68562,AAI13858 Hs.500897,Hs.693257,Hs.707763 FLJ20154|FLJ20367|MGC125648|OPA1L|OPAL1 outcome predictor in acute leukemia 1 protein-coding 1322498 C10orf27 chromosome 10 open reading frame 27 16385451,18208870,16344560,15164054,14702039,12477932 219793 NM_152710,AL358817,CH471083,AK057382,AK303242,AK303344,AK310699,AK310732,BC060774,BC137543,BC137544,BC139728,BC144692,BC144694,BC144695,DB032601,DB147708 NP_689923,CAI13854,CAI13855,EAW54411,EAW54412,EAW54413,BAB71459,BAH13923,BAH13946,AAI37544,AAI37545,AAI39729,AAI44693,AAI44695,Q96M53 Hs.386698 FLJ32820|spatial protein SPATIAL|stromal protein associated with thymii and lymph node homolog protein-coding 1317417 C10orf28 chromosome 10 open reading frame 28 16385451,20379614,16344560,15489334,15164054,14702039,12477932,10867487,8889548 27291 NM_014472,AL139241,AL355301,CH471066,AF050198,AF525304,AK058187,AK094479,AK292546,BC009231,BC047908,BC098175,BC098268,BC098359,BC099848,BM969188,BU678731,DA114618 NP_055287,CAH72818,CAH72820,CAI16099,EAW49887,EAW49888,EAW49889,AAC05748,AAP80788,BAC04364,BAF85235,AAH09231,AAH47908,AAH98175,AAH98268,AAH98359,AAH99848,Q4KMT0,Q4KMY3,Q4KMZ7,Q7Z5L2,Q96GU0 Hs.419800 FLJ25458|FLJ37160|GIDRP86|GIDRP88|PSORT OTTHUMP00000020241|OTTHUMP00000020242|growth inhibition and differentiation related protein 86|growth inhibition and differentiation-related protein 88|putative mitochondrial space protein 32.1 protein-coding 1349358 C10orf31 chromosome 10 open reading frame 31 414196 AK097813 1323417 C10orf32 chromosome 10 open reading frame 32 16344560,15489334,15164054,14702039,12477932,7566098,19915575 119032 NM_144591,NM_001136200,AL358790,CS300779,AA299084,AI147530,AK098071,AK311742,AL832477,AW058660,BC015994,BP419064,DA006534 NP_653192,NP_001129672,CAI52502,CAK32443,BAG53576,BAG34685,CAI46115,AAH15994,Q96B45 Hs.34492 DKFZp686B2219|FLJ40752|MGC27171|RP11-753C18.6 OTTHUMP00000211190|hypothetical protein LOC119032 protein-coding 1313704 C10orf35 chromosome 10 open reading frame 35 737633 16385451,20379614,17207965,16344560,15489334,15164054,12477932,11591653 737633 219738 NM_145306,AL450311,CH471083,BC013587,BF510821,CK903062,DB339258,DB465414 ADQ33141,NP_660349,CAH72735,CAH72736,EAW54330,EAW54332,AAH13587,Q96D05 Hs.522992 hypothetical protein LOC219738 protein-coding 1319845 C10orf4 chromosome 10 open reading frame 4 16169070,15489334,15203205,15164054,14702039,12477932,11483580,15146197,16385451,17207965 118924 NM_145246,AL157396,CH471066,AJ431721,AJ431722,AJ431723,AJ431724,AJ431725,AK090955,AK308861,AK309016,AL133616,BC018007,BM272089,BX648699,CR621041,CR625507,CN298116,NG_016832 NP_660289,CAH73836,EAW50055,EAW50056,EAW50057,EAW50058,EAW50059,EAW50060,EAW50061,CAD24470,CAD24471,CAD24472,CAD24473,CAD24474,BAC03556,AAH18007,Q70Z53,ADQ32087 Hs.586650 C10orf4|F26C11.1-like|FRA10A|FRA10AC1 fragile site 10q23.3|protein FRA10AC1|rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1 protein-coding 1347042 C10orf40 chromosome 10 open reading frame 40 737633 12477932 737633 283025 NR_024340,AC023904,BC038741,BC048976,BC119749,BC119750 A4QN01 Hs.522955 miscrna 1345140 C10orf41 chromosome 10 open reading frame 41 15489334,15164054,14702039,12477932 100131213 NR_024421,NR_024422,AC010997,AK024492,AW449476,BC029963,BI522594,BJ990170 BAB15782,A6NEH8,Q9H7I8 Hs.534598 C10orf41|FLJ00096 miscrna 1350474 C10orf43 chromosome 10 open reading frame 43 414155 AL603965 FLJ32754|bA145E20.5 chromosome 10 open reading frame 43 protein-coding 1349832 C10orf44 chromosome 10 open reading frame 44 12477932 414201 BC033403 Hs.666576 bA402L1.3 protein-coding 1317719 C10orf46 chromosome 10 open reading frame 46 737633 15164054,14702039,12477932,15489334,19829063 737633 143384 NM_153810,AL139407,AL157388,CH471066,AJ544771,AK026985,AK057742,AK097728,AK131008,AK301182,AY743663,BC038294,BG772719,BU623607 NP_722517,CAH73727,EAW49411,EAW49412,CAD67614,BAC05153,BAG62766,AAU89709,AAH38294,Q86Y37 Hs.604614 FLJ40409|MGC33215 OTTHUMP00000020585|chromosome 10 open reading frame 46|cullin protein-coding 1351835 C10orf47 chromosome 10 open reading frame 47 737633 15489334,15302935,15164054,12477932 737633 254427 NM_153256,AL138898,CH471072,BC007547,BC017269,BC029134,BC040040,BC048800,CR621861 NP_694988,CAH73460,CAH73461,CAH73462,CAH73463,EAW86336,EAW86337,EAW86338,EAW86339,AAH07547,AAH17269,AAH29134,AAH48800,Q86WR7 Hs.435775 MGC35403 OTTHUMP00000019082|hypothetical protein LOC254427 protein-coding 1345207 C10orf50 chromosome 10 open reading frame 50 645528 NR_026793,AL160287,BC038537 Hs.634511 C10orf50|bA128B16.2 miscrna 1349008 C10orf52 chromosome 10 open reading frame 52 15164054 645587 XM_928603,AL365501 XP_933696,P0C842 FLJ35853 Putative uncharacterized protein C10orf52|chromosome 10 open reading frame 52 protein-coding 1345709 C10orf53 chromosome 10 open reading frame 53 737633 16344560,15489334,14702039,12477932,20379614 737633 282966 NM_182554,NM_001042427,AC069546,AC073366,CH471187,AK091773,AW182169,BC028127,BX102324,DB043416 NP_872360,NP_001035892,EAW93083,EAW93084,EAW93085,AAH28127,Q8N6V4 Hs.131287 hypothetical protein LOC282966 protein-coding 1605963 C10orf54 chromosome 10 open reading frame 54 16189514,15498874,15489334,15340161,15231748,15164054,14702039,12975309,12477932,17207965,20666777 64115 AL731541,CH471083,AF193048,AF289594,AK024449,AY265805,AY358379,BC020568,BC111048,BC127257,CR595858,CR598635,CR599757,CR600781,CR604197,CR610409,CR611971,CR612511,CR614217,CR614300,CR621313,CR624628,CR626183,NM_022153,EF506490 NP_071436,CAI40842,EAW54435,AAG22476,AAL55778,BAB15739,AAP03084,AAQ88745,AAH20568,AAI11049,AAI27258,ABP88253,Q2TA85,Q8WYG9,Q9H7M9,ADQ32336 Hs.47382 GI24|PP2135|SISP1 platelet receptor Gi24|stress induced secreted protein 1 protein-coding 1348811 C10orf55 chromosome 10 open reading frame 55 15489334,15164054,14702039,12477932,19913121,20628086 414236 NM_001001791,AL596247,CH471083,AI912900,AK092517,BC049374 Q5SWW7,NP_001001791,CAI13971,EAW54546,BAC03908,AAH49374 Hs.585453 bA417O11.3 hypothetical protein LOC414236 protein-coding 1313865 C10orf57 chromosome 10 open reading frame 57 737633 15489334,15252450,15164054,14702039,12477932,9373149,8125298,16385451 737633 80195 NM_025125,AL356095,CH471142,AK023325,AK222536,AK300490,AK309425,AK309980,AK310160,AK311563,AL832397,AL832483,BC022252,BX537803,CR457310,CR606165,CR622847,DQ786319,CS488903 NP_079401,CAI40443,CAI40444,CAI40445,CAI40446,CAI40447,EAW80409,EAW80410,EAW80411,EAW80412,EAW80413,EAW80414,BAB14528,BAD96256,BAG62205,AAH22252,CAG33591,Q5JTB8,Q5JTC0,Q5JTC1,Q8TBM7,CAM55977 Hs.169982 FLJ13263|RP11-369J21.6|bA369J21.6 OTTHUMP00000019951|OTTHUMP00000019952|transmembrane protein C10orf57 protein-coding 1320148 C10orf58 chromosome 10 open reading frame 58 737633 16303743,18029348,16344560,15489334,14702039,12975309,12477932,11483580,9373149,8125298,14710190,20877624 737633 84293 CR616574,NR_024572,AC021028,AL359195,CQ782618,CS072362,AA829725,AF086462,AF305824,AI589570,AK022598,AK027858,AK074643,AK075447,AK126292,AK225387,AK315440,AY359059,BC005871,BC024308,BC034631,BC045777,BC071938,CR596764,CR597458,CR606562,NM_032333,CR618118,CR618887,CR619721,CR620707,DA136257,DB494833,DB532554 NP_115709,CAF85885,CAI93500,AAK55527,BAC11108,BAC11627,BAG37828,AAQ89418,AAH05871,Q9BRX8 Hs.500333,Hs.718589 FLJ12536|FLJ14952|FLJ44312|MGC4248 OTTHUMP00000019974|OTTHUMP00000019976|OTTHUMP00000019977|OTTHUMP00000019978|hypothetical protein LOC84293 protein-coding 1351899 C10orf62 chromosome 10 open reading frame 62 16381901,16189514,15489336,15489334,15164054,12477932,11076863,19447967 414157 NM_001009997,AL355315,CH471066,BC037252,BC043281,BI826342 NP_001009997,CAI15456,EAW49915,AAH37252,Q5T681,CAL37434,CAL37673,CAL38043,CAL38061,CAL38381,CAL38664,CAL38665,CAL38667 Hs.662302 bA548K23.1 hypothetical protein LOC414157 protein-coding 1348188 C10orf64 chromosome 10 open reading frame 64 737633 18519826,15489334,14702039,12477932 737633 159491 XM_001124973,XM_001124974,XM_001719015,AC035139,AC068898,AK093607,AK127650,BC034937 XP_001124973,XP_001124974,XP_001719067,BAC04204,BAC87073,AAH34937,Q6ZS81,Q8N222 Hs.287379 FLJ36288|FLJ45748|MGC40604 protein-coding 1350054 C10orf67 chromosome 10 open reading frame 67 737633 18723019,15489334,15164054,12477932 737633 256815 NM_153714,AL592296,AL606469,CH471072,BC035732 NP_714925,CAI16751,CAI13711,EAW86129,EAW86131,EAW86132,AAH35732,Q8IYJ2 Hs.522360 MGC46732|RP11-792P23.2 hypothetical protein LOC256815 protein-coding 1346795 C10orf68 chromosome 10 open reading frame 68 18984674,16344560,14702039,12477932,16385451,20379614 79741 NM_024688,AL354750,AL355540,AL356053,AL365203,AL591850,CH471072,AA401575,AK023093,AK097668,AK301824,BC125090,BC125091,DB026046 NP_078964,CAM14099,CAQ06850,CAC40698,CAM19967,CAQ06687,CAQ08110,CAM13067,CAM13068,CAQ09810,EAW85962,EAW85963,BAB14400,BAC05140,BAG63270,AAI25091,AAI25092,Q08AN8,Q96SF8,Q9H943,CAM20499,CAM20500 Hs.585464 FLJ13031|MGC149767|RP11-479G22.1|dJ1104A8.1 OTTHUMP00000195173|OTTHUMP00000195174|chromosome 10 open reading frame 68 protein-coding 1353451 C10orf71 chromosome 10 open reading frame 71 15164054,14702039,12477932 118461 NM_199459,NM_001135196,AC027674,AJ237663,AJ311357,AJ311358,AK056949,AK127811,AL833265,BC126413 NP_955629,NP_001128668,CAC33852,CAC85340,CAC85341,BAB71321,BAG54576,AAI26414,Q711P9,Q711Q0,Q96MH0,Q9BQV1,ADR83248 Hs.585480 FLJ45913 hypothetical protein LOC118461 protein-coding 1321317 C10orf72 chromosome 10 open reading frame 72 16344560,15489334,14702039,12477932,16385451,20379614 196740 NM_001031746,NM_144984,AC060234,AC084727,CH471187,AK001062,AK021993,AK056299,AK297931,AL080114,BC017010,BC041414,DA176757,DA920289 NP_001026916,NP_659421,EAW93115,EAW93116,BAB71142,BAG60248,AAH41414,Q8IW00 Hs.522928 FLJ31737|MGC44086 hypothetical protein LOC196740 protein-coding 1348649 C10orf75 chromosome 10 open reading frame 75 737633 14702039,12477932,16712791 737633 90271 AK023036,NR_026762,AL139819,BC024924,BC045787,BC062533,CB159470 Hs.654734,Hs.628088 C10orf75|FLJ12974|bA34D15.5 miscrna 1313900 C10orf76 chromosome 10 open reading frame 76 16385451,16344560,14702039,12477932,10737800 79591 AL592069,CH471066,AK023176,AK097972,AW936405,BC032118,BC054882,BC110511,DA020448,DA311439,DR002231,DT932690,NM_024541,AC010789,AL391827 EAW49727,EAW49728,EAW49729,BAB14447,BAG53558,AAH54882,Q5T2E6,Q5T2E7,Q7Z2U8,CAI16232,NP_078817,CAI16230,CAI16231 Hs.16004 FLJ13114|MGC125927|RP11-190J1.9 hypothetical protein LOC79591 protein-coding 1313532 C10orf78 chromosome 10 open reading frame 78 737633 15489334,15164054,12477932,10409428,16385451 737633 119392 NM_145247,NM_001002759,AL357336,CH471066,AK123954,AK291184,BC020892,BC043256,BC047587,BC140835,BE960638,BG942691,CD694866 NP_660290,NP_001002759,CAI40454,CAI40456,EAW49610,EAW49611,BAF83873,AAH20892,AAI40836,Q5JT39,Q86XK3 Hs.93667 FLJ41960|RP11-373N18.1|bA373N18.1 hypothetical protein LOC119392 protein-coding 1350133 C10orf79 chromosome 10 open reading frame 79 737633 16344560,14702039,12477932,19913121,16385451,18839057 737633 80217 AW269011,BC036647,BC071565,DA681478,DB065957,AL139341,AL357336,CH471066,AK026597,AK093325,AK295018,NM_025145,AL136901,AL833836 AAH36647,Q5JT42,Q5TA04,Q5TA05,Q8NDM7,NP_079421,CAI17220,CAI17221,CAI17222,CAI17223,CAI40457,CAI40458,CAI40459,EAW49605,EAW49606,EAW49607,EAW49608,EAW49609,BAB15506,BAC04133,BAG58077,CAB66835,CAD38696 Hs.288927 C10orf79|FLJ22944|FLJ36006|RP11-373N18.2|bA373N18.2 WD repeat-containing protein C10orf79 protein-coding 1344870 C10orf81 chromosome 10 open reading frame 81 737633 12477932,16344560,8889548,20379614 737633 79949 NM_024889,AL592546,AK027190,AK126354,AK128811,AK292867,BC036365,BC037870,FJ236306,AK296132,BM979821,DB002630,NM_001193434,NM_001193435,NM_182601 NP_079165,CAI12642,CAI12643,CAI12644,CAI12645,BAB15687,BAG54312,BAC87618,BAF85556,AAH36365,AAH37870,ACI45238,Q5SXH7,BAH12264,NP_001180363,NP_001180364,NP_872407 Hs.228320 FLJ23537|HEL185|RP11-211N11.2|bA211N11.2 PH domain-containing protein C10orf81|epididymis luminal protein 185 protein-coding 1352905 C10orf82 chromosome 10 open reading frame 82 737633 17207965,16189514,15489334,14702039,12477932 737633 143379 HC006798,NM_144661,AC016825,CH471066,AK097587,BC021737,BX537582 CBH19205,ADQ32801,NP_653262,EAW49444,EAW49445,EAW49446,BAG53491,AAH21737,Q8WW14 Hs.121347 FLJ40268|MGC33547 hypothetical protein LOC143379 protein-coding 1313564 C10orf84 chromosome 10 open reading frame 84 737633 16344560,16341674,15489334,14702039,12477932,16385451,20379614,17207965 737633 63877 NM_001134672,AL365498,CH471066,AK023250,AK026630,BC023577,BM837313,CR457304,CR591945,CR600950,NM_022063,CR616981,DA168924 NP_071346,NP_001128144,CAI13373,CAI13375,EAW49416,EAW49417,EAW49418,BAB14487,BAB15514,AAH23577,CAG33585,Q5T374,Q6IA51,Q9H8W3,ADQ32244 Hs.372309 FLJ13188|RP11-319I23.1|bA319I23.1 hypothetical protein LOC63877 protein-coding 1352545 C10orf85 chromosome 10 open reading frame 85 14702039,12477932 404216 Q8N1V8 BC108662,NM_001012711,AC023282,AK094721 BAC04408,AAI08663,Q8N1V8,NP_001012729 Hs.196578 FLJ37402|MGC131689 protein-coding 1312790 C10orf88 chromosome 10 open reading frame 88 737633 17207965,15489334,14702039,12477932,16169070,20418485 737633 80007 NM_024942,AC073585,CH471066,AK023552,BC021705,BC032645,BI821345,CB044034 ADQ31756,NP_079218,EAW49297,EAW49298,BAB14609,AAH32645,Q9H8K7 Hs.501286 FLJ13490 hypothetical protein LOC80007 protein-coding 1313898 C10orf90 chromosome 10 open reading frame 90 15489334,15164054,14702039,12477932 118611 AL583860,AL589787,CH471066,AF435960,AK057500,AK093093,AK297577,AK308357,AK309217,NM_001004298,AL705062,BC021140,BC034828,BC140898,BC146869,CR602784,CR621517 NP_001004298,CAI12407,CAI12408,CAI12409,CAI40678,CAI40679,CAI40680,CAI40684,EAW49200,EAW49201,EAW49202,AAM20911,BAB71512,BAG59968,AAH21140,AAI40899,AAI46870,Q5T024,Q5T025,Q96M02,AAI56059,AAI56942 Hs.587663 FLJ32938|RP11-422P15.2|bA422P15.2 OTTHUMP00000020729|OTTHUMP00000020731|OTTHUMP00000020732|hypothetical protein LOC118611 protein-coding 1354177 C10orf91 chromosome 10 open reading frame 91 737633 17207965,15489334,15164054,12477932 737633 170393 NM_173541,AL451069,CH471287,BC030794,BE909428 ADQ32800,NP_775812,CAI14119,EAW49118,EAW49119,AAH30794,Q5T1B1 Hs.375059 RP11-432J24.4|bA432J24.4 hypothetical protein LOC170393 protein-coding 1350822 C10orf92 chromosome 10 open reading frame 92 737633 16385451,15489334,15164054,14702039,12477932,11230166,8889548 737633 54777 XM_003118625,XM_003119478,XM_003120662,AL392043,AL691429,CH471211,AK128150,AL122111,BC034223,CA310952,DV080461,NM_001200049 XP_003118673,XP_003119526,XP_003120710,CAI39948,CAI39949,CAI39950,CAI17262,EAW61309,CAB59272,AAH34223,Q5SR76,Q8IYW2,NP_001186978 Hs.298038 C10orf123|C10orf124|DKFZp434A1721|FLJ46273|RP11-288G11.4|bA288G11.4|bA288G11.5|bB137A17.2 TPR repeat-containing protein C10orf93|chromosome 10 open reading frame 92|hypothetical protein LOC54777 protein-coding 1347494 C10orf93 chromosome 10 open reading frame 93 15489334,15164054,14702039,12477932 255352 NM_173572,AL691429,CH471211,AA813184,AK098820,BC044661,BC146900,BC146908,CR597016,DR001134,BX376477 NP_775843,CAI17263,CAI17264,EAW61310,BAC05424,AAH44661,AAI46901,AAI46909 Hs.375837 RP13-137A17.3|bB137A17.3 hypothetical protein LOC255352 protein-coding 1349493 C10orf95 chromosome 10 open reading frame 95 15489334,15164054,14702039,12477932 79946 NM_024886,AL121928,CH471066,AK024342,BC126459 NP_079162,EAW49692,BAB14892,AAI26460,Q9H7T3,CAI12523 Hs.225084 FLJ14280 hypothetical protein LOC79946 protein-coding 1346141 C10orf96 chromosome 10 open reading frame 96 737633 20379614,17207965,12477932 737633 374355 NM_198515,AC011328,CH471066,AJ457798,BC044830 ADQ33001,NP_940917,EAW49454,EAW49455,AAH44830,P0C7W6 Hs.233407 MGC35062 hypothetical protein LOC374355 protein-coding 1342639 C10orf99 chromosome 10 open reading frame 99 12975309 387695 NM_207373,AC022389,CH471142,AI831407,AW351839,AY358751 NP_997256,EAW80365,EAW80366,AAQ89111,Q6UWK7 Hs.298713 FLJ21763|UNQ1833 RLLV1833|putative uncharacterized protein C10orf99 protein-coding 1345294 C11orf1 chromosome 11 open reading frame 1 10873569,15489334,14702039,12477932,16169070,17207965 64776 NM_022761,AP001781,CH471065,AJ250229,AK027152,BC020628,BC036892,CR457378,GN341810 NP_073598,EAW67160,CAB96538,BAB15674,AAH20628,CAG33659,Q9H5F2,CAY39324,ADQ32215 Hs.17546 FLJ23499 hypothetical protein LOC64776 protein-coding 1351820 C11orf10 chromosome 11 open reading frame 10 15489334,12665801,12477932,12427278,11042152,20694148,19913121,20562440,20628086,21102463 746 NM_014206,AP002380,CH471076,AF070661,AF085986,AF086763,AK291683,BC002750,BC015968,CS488918,CS488982 NP_055021,EAW73970,EAW73971,AAD20967,AAF28401,BAF84372,AAH02750,AAH15968,P61165,CAM55992,CAM56011 Hs.437779 hypothetical protein LOC746|protein NEF1 protein-coding 1347638 C11orf16 chromosome 11 open reading frame 16 16344560,16189514,15489334,12477932,11528127,9373149,8889548,8125298 56673 NM_020643,AC026894,AJ400877,CH471064,AK074455,AK223377,BC027865,CA310676,DA399415 NP_065694,CAB92289,EAW68611,EAW68612,EAW68613,BAD97097,AAH27865,Q9NQ32 Hs.277349 hypothetical protein LOC56673 protein-coding 1315871 C11orf17 chromosome 11 open reading frame 17 15630084,18178962,15489334,14702039,12527432,12477932,11528127,19913121,20628086,17207965,20562110 56672 NM_020642,NM_182901,AC026894,AF493786,AJ400877,CH471064,CQ783908,AF493783,AF493784,AF493785,AF512007,AK075308,AK294506,AK294549,BC030996 NP_065693,NP_878904,AAM12865,AAM12866,AAM12867,CAB92290,EAW68614,EAW68615,EAW68616,CAF86919,AAM12862,AAM12863,AAM12864,AAM34785,BAC11537,BAG57722,BAG57753,AAH30996,Q9NQ31,ADQ32228 Hs.131180 AKIP1|BCA3 PKA-interacting protein|breast cancer associated gene 3|breast cancer-associated gene 3 protein|koyt binding protein 1|koyt binding protein 2|koyt binding protein 3|proline-rich protein BCA3|protein kinase A-interacting protein 1 protein-coding 1348306 C11orf18 chromosome 11 open reading frame 18 11528127 493900 AJ400877 1351540 C11orf2 chromosome 11 open reading frame 2 9615229,15498874,15489334,14702039,12477932,9286704,20685960 738 NM_013265,AP003068,CH471076,AF024631,AK023941,AK093791,AL833818,BC006555,BC007198,BC009285,BC010540,BC010872,BC017438,CR606643,CR621135 NP_037397,EAW74347,AAF21627,CAD38681,AAH06555,AAH07198,AAH09285,AAH10540,AAH17438,Q9UID3 Hs.277517 ANG2|ANG3|C11orf3|FFR|FLJ13879|FLJ36472 another new gene 2 protein|protein fat-free homolog protein-coding 2302458 C11orf20 chromosome 11 open reading frame 20 16381901,15489336,11230166,11076863,11256614 25858 NM_001039496,AP001453,AL117564,CR624550 NP_001034585,CAB55995,Q9NTU4,CAL37866 Hs.97174 DKFZp566E164 hypothetical protein LOC25858 protein-coding 1354141 C11orf21 chromosome 11 open reading frame 21 12477932,11054561 29125 NR_024621,NM_001142946,AC129929,AB029488,AK290921,AK310172,BC028070,BI770361 NP_001136418,BAA89482,BAF83610,Q9P2W6 Hs.559181 OTTHUMP00000196041|hypothetical protein LOC29125 protein-coding 1323665 C11orf24 chromosome 11 open reading frame 24 15498874,15489334,12975309,12477932,11401438 53838 AY358754,NM_022338,AP002813,AP002992,CH471076,AF264781,AF370372,BC011765,BG701401,CR595092,CR597895,CR600976,CR604388,CR607549,CR615151,CR623094,CR625680 NP_071733,EAW74702,EAW74703,EAW74704,AAG36936,AAQ15208,AAQ89114,AAH11765,Q96F05 Hs.303025 DM4E3 hypothetical protein LOC53838 protein-coding 1347380 C11orf26 chromosome 11 open reading frame 26 79262 1343186 C11orf29 chromosome 11 open reading frame 29 83960 1343136 C11orf3 chromosome 11 open reading frame 3 14702039,9615229,9286704 739 AK023941,AK093791 Hs.277517 ANG3 protein-coding 1345109 C11orf30 chromosome 11 open reading frame 30 19131338,19124506,18950845,18787380,18587394,18393977,18314909,16236351,16145051,16029503,15978617,15947784,15489334,15302935,14702039,14651845,12477932,19760754,21064104,21072187,16615912,19636701,19349984,20379614,20453000,20503266 56946 NM_020193,AP002360,AP003165,CH471076,AF226047,AJ430203,AK023651,AK125114,AK126030,AK304043,AK304106,AK309621,AY070433,BC021688,BC029375,BC033404,BC117265,BC143370,BC143374,BC143376,BG722092,BX647398 NP_064578,EAW74996,EAW74997,EAW74998,EAW74999,EAW75000,AAF86947,CAD22881,BAB14627,BAG54147,BAG54280,BAG64954,BAG65009,AAL65260,AAH29375,AAH33404,AAI17266,AAI43371,AAI43375,AAI43377,Q17RM7,Q7Z589 Hs.352588 EMSY|FLJ90741|GL002 protein EMSY protein-coding 1354417 C11orf31 chromosome 11 open reading frame 31 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of this gene is not known, however, selenoproteins are thought to be responsible for most biomedical effects of dietary selenium. [provided by RefSeq] 737633 19766117,17526492,17389926,17337453,15489334,12775843,12477932,21048031 737633 280636 NM_170746,AP001931,CH471076,AF085883,AF536829,AJ276249,AJ276250,BC021122,BC064570,BX493234 NP_734467,EAW73781,EAW73782,AAN61472,AAH21122,Q8IZQ5 Hs.655373 C17orf10|SELH selenoprotein H protein-coding 1350055 C11orf32 chromosome 11 open reading frame 32 12970790,12477932,8619474 442871 BC040643,U90916 Hs.368592 protein-coding 1343359 C11orf34 chromosome 11 open reading frame 34 18195351,15203209 349633 NM_001145024,AP002884,AY364431,AY364434,AY364435,AY364432,AY364433 NP_001138496,AAQ72434,AAQ72437,AAQ72438,Q6UQ26,Q6UQ28,AAQ72435,AAQ72436 Hs.632097 PLET1 placenta expressed transcript 1|placenta-expressed transcript 1 protein protein-coding 1603159 C11orf35 chromosome 11 open reading frame 35 15489334,12477932 256329 NM_173573,AP006284,CH471158,BC037936,BC039077,AI539379,BX384084,BX384085 NP_775844,EAX02345,EAX02346,EAX02347,AAH39077,Q8IXW0 Hs.669395 MGC35138 hypothetical protein LOC256329 protein-coding 1601706 C11orf36 chromosome 11 open reading frame 36 15489334,14702039,12477932 283303 NR_027138,AC109309,CH471158,AK093421,AK097749,AY422795,BC104971,BC104973 EAX02545,EAX02546,BAC04158,BAC05159,AAR84193,Q2M3A8 Hs.151154 FLJ36102|HSD-40|MGC132631|MGC132633 miscrna 1605575 C11orf40 chromosome 11 open reading frame 40 20237496 143501 NM_144663,AC090719,CH471064,AF439154 NP_653264,EAW68838,AAL31642,Q8WZ69,AAI52950 Hs.350556 NOV1 putative uncharacterized protein C11orf40|ro/SSA1-related protein protein-coding 1604377 C11orf41 chromosome 11 open reading frame 41 16344560,20936779,18029348,15489334,14702039,12477932,11181995,16713569 25758 DA034273,NM_012194,AL049575,AL049629,CH471064,AK094307,AK124395,BC025668,U10991 NP_036326,CAQ10890,CAQ07672,EAW68197,BAC85845,AAA21253,Q12914,Q6ZVL6 Hs.502266 C11orf69|FLJ36988|G2|MGC34830 Uncharacterized protein C11orf69|hypothetical protein LOC25758 protein-coding 1602976 C11orf42 chromosome 11 open reading frame 42 15489334,12477932 160298 AC022762,CH471064,BC031612,NM_173525,AA781757 NP_775796,EAW68741,AAH31612,Q8N5U0 Hs.278221 MGC34805 hypothetical protein LOC160298 protein-coding 1601924 C11orf44 chromosome 11 open reading frame 44 14702039 283171 Q8N8P7 NM_173580,AP003486,CH471065,AK096377 NP_775851,EAW67791,BAC04771,Q8N8P7 Hs.376151 FLJ39058 protein-coding 1606680 C11orf45 chromosome 11 open reading frame 45 15489334,12477932 219833 AK314137,NM_145013,AP000920,CH471065,AK125634,BC025756 NP_659450,EAW67728,EAW67729,EAW67730,BAG54227,BAG36827,AAH25756,Q8TAV5,ABM82570,ABM85759 Hs.351133 FLJ43646|MGC35558 putative uncharacterized protein C11orf45 protein-coding 1602076 C11orf46 chromosome 11 open reading frame 46 15489334,14702039,12477932,17207965 120534 NM_152316,AL356440,CH471064,CS300570,AK096287,BC047775,BX647617 NP_689529,EAW68259,CAK32234,BAC04747,AAH47775,CAI46092,Q8N8R7,ADQ33112 Hs.502208 FLJ38968|dJ299F11.1 hypothetical protein LOC120534 protein-coding 1603865 C11orf47 chromosome 11 open reading frame 47 14702039,12477932 283294 NM_173589,AC084337,AK093028,AK096944,BC111765,BX648742 NP_775860,BAC04023,AAI11766,Q2NKK8 Hs.377188 FLJ35709|MGC133191 protein-coding 1604294 C11orf48 chromosome 11 open reading frame 48 17154719,14702039,12477932 79081 NM_024099,AP001458,CH471076,AK055736,AK124145,AK302538,BC001434,BI831485,CR612336 NP_077004,EAW74052,EAW74053,EAW74054,EAW74055,EAW74056,EAW74057,EAW74058,BAG63810,AAH01434,Q9BQE6 Hs.9061 MGC2477 hypothetical protein LOC79081 protein-coding 1604290 C11orf49 chromosome 11 open reading frame 49 16713569,16381901,16189514,15489336,15489334,14702039,12477932,11230166,11076863,8889548,16169070,17207965,20379614 79096 NM_001003678,NM_001003676,NM_001003677,NM_024113,AC021573,AC090470,AC090589,AC103792,CH471064,AK025863,AK293609,AK300813,AK315639,AK316318,AL136575,CR626306,BC001860,BC009455,BC013988,BC052291,BQ428072,BU728094,CR457351,CR592241,CR594959,CR598117,CR599376,CR600987,CR604751,CR605648,CR610217,CR618684,CR619964,CR624053 NP_001003678,NP_001003676,NP_001003677,NP_077018,EAW67969,EAW67970,EAW67971,EAW67972,EAW67973,BAB15262,BAG57072,BAG62469,BAH14689,CAB66510,AAH01860,AAH09455,AAH13988,AAH52291,CAG33632,Q9H6J7,CAL38461,CAL38682,ADQ31717 Hs.368296 FLJ22210|MGC4707 hypothetical protein LOC79096 protein-coding 1601769 C11orf51 chromosome 11 open reading frame 51 8125298,17207965,11256614,15489334,12477932,11230166,11042152,9373149 25906 AP000812,NM_014042,CH471076,AF077206,AK222622,AK311146,AL080071,BC005156,BC005393,CR603805 NP_054761,EAW74838,EAW74839,EAW74840,EAW74841,EAW74842,AAD27001,CAB45698,AAH05156,AAH05393,P60006,ACE87244,ADQ32392,ACE86562 Hs.38044 DKFZp564M082|HSPC020 hypothetical protein LOC25906 protein-coding 1604761 C11orf52 chromosome 11 open reading frame 52 15489334,14702039,12477932 91894 NM_080659,AP000907,CH471065,AK057948,BC008501,BQ102454 NP_542390,EAW67170,BAB71620,AAH08501,Q96A22 Hs.97013 FLJ25219|MGC131888|MGC14839 hypothetical protein LOC91894 protein-coding 1605809 C11orf53 chromosome 11 open reading frame 53 18753146,15489334,12477932,17207965 341032 NM_198498,AP002448,CH471065,BC039669 NP_940900,EAW67135,AAH39669,Q8IXP5,ADQ33056 Hs.298685 MGC50104 hypothetical protein LOC341032 protein-coding 1603055 C11orf54 chromosome 11 open reading frame 54 16522806,16189514,15498874,15489334,12477932,11256614,11230166,9373149,8125298,19060904 28970 AL136605,AY203960,BC007110,BC012298,BC046477,CR533538,CR603554,CR624225,NM_014039,AP001273,CH471065,AF092133,AK129932,AK225977,AK291833,AK292215 CAB66540,AAP34483,AAH07110,AAH12298,CAG38569,Q9H0W9,ACE87233,ACE86551,BAF84904,NP_054758,EAW66915,EAW66916,EAW66917,EAW66918,EAW66919,AAD40375,BAF84522 Hs.8360 PTD012 LP4947|ester hydrolase C11orf54 protein-coding 1604913 C11orf55 chromosome 11 open reading frame 55 14702039 399879 NM_207428,AC087277,AK127155 NP_997311,BAC86858,Q6ZST8 Hs.99443 FLJ45212 protein-coding 1605379 C11orf57 chromosome 11 open reading frame 57 14702039,12477932,8889548,17213182,17207965,15489334 55216 NM_018195,NM_001082970,NM_001082969,AP000907,AP002007,CH471065,AB096251,AK001588,AK094203,AK125340,BC005403,BC030546,BC048133,BC072455,BG115155,BM670479,BX538107,CD706604,DT220380,EL736728,NG_012337 NP_060665,NP_001076439,NP_001076438,EAW67178,EAW67179,BAA91774,BAC86137,AAH05403,AAH30546,AAH48133,AAH72455,CAD98020,Q6ZUT1,Q9NVH7 Hs.195060 FLJ10726 hypothetical protein LOC55216 protein-coding 1605695 C11orf58 chromosome 11 open reading frame 58 16169070,19615732,17207965,9263035,17081983,16094384,15592455,15489334,15342556,14702039,12477932 10944 NM_014267,NM_001142705,AC026639,CH471064,AK057169,AK093998,AK094549,AK315382,BC007103,BC016352,BC020937,BC103747,BP210918,BP226882,BU661194,BX648095,CR456882,CR592723,CR600300,CR602558,CR602799,CR606236,CR614521,CR614900,CR616149,CR623569,U51678 ADQ32805,NP_055082,NP_001136177,EAW68455,EAW68456,EAW68457,BAG37775,AAH07103,AAH16352,AAH20937,AAI03748,CAG33163,AAB99729,O00193 Hs.677780 DKFZp686N0232|IMAGE145052|MGC117265|SMAP small acidic protein protein-coding 1605997 C11orf59 chromosome 11 open reading frame 59 20381137,19654316,16169070,15592455,15498874,15489334,14702039,12477932,12358155,18029348,19177150,20544018 55004 NM_017907,AP000812,CH471076,AF289583,AK000632,AK300681,BC001706,CR457247,CR593078,CR595901,CR597246,CR601471,CR609270,CR609345,CR610683,CR610955,CR613122,CR615692,CR619743,CR623336,CR624050,CR626401,BX381569 NP_060377,EAW74836,EAW74837,AAL55767,BAA91297,BAG62364,AAH01706,CAG33528,Q6IAA8 Hs.530753 FLJ20625|PDRO|Prdo|p18|p27RF-Rho RhoA activator C11orf59|lipid raft adaptor protein p18|p27Kip1-releasing factor from RhoA|p27RF-Rho|p27kip1 releasing factor from RhoA|protein associated with DRMs and endosomes|ragulator complex protein PDRO|rhoA activator C11orf59 protein-coding 1353268 C11orf6 chromosome 11 open reading frame 6 9286704 742 1604332 C11orf60 chromosome 11 open reading frame 60 11256614,10873569,17720815,16381901,15489336,15489334,12477932,11230166,11076863,16344560,19253336 56912 AL136934,BC011647,BC012802,BC022856,CR457344,CR600708,CR605306,CR607003,CR610960,CR613135,CR617203,CR617874,CR625012,NM_020153,AP000941,CH471065,AJ249980,AK025480,AK289521,DA251912,NM_001168618 CAB66868,AAH11647,AAH12802,AAH22856,CAG33625,Q9NQC8,CAL37908,CAL38565,BAF82210,NP_064538,EAW67394,EAW67395,EAW67396,CAB96537,BAB15146,NP_001162089 Hs.533738 C11orf2|C11orf60|FLJ21827|IFT46 UPF0360|intraflagellar transport protein 46 homolog|intraflagellar transport protein IFT46 protein-coding 1606219 C11orf61 chromosome 11 open reading frame 61 19240061,15489334,14702039,12477932,16169070 79684 NM_024631,AP000866,CH471065,AK026995,AK092413,AK303902,AL512691,BC064919 NP_078907,EAW67600,EAW67601,BAB15618,BAG52548,BAG64832,CAC21648,AAH64919,Q6P1R3 Hs.146079 FLJ23342 hypothetical protein LOC79684 protein-coding 1605626 C11orf63 chromosome 11 open reading frame 63 15489334,14702039,12477932,20379614 79864 NM_024806,NM_199124,AP003040,AP004318,CH471065,AK027207,AK097534,AK291625,BC009820,BC068507,BU069407,CD244380 NP_079082,NP_954575,EAW67533,EAW67534,EAW67535,EAW67536,BAB15691,BAG53484,BAF84314,AAH09820,AAH68507,Q6NUN7 Hs.164705 FLJ23554 hypothetical protein LOC79864 protein-coding 2303826 C11orf64 chromosome 11 open reading frame 64 15489334,12477932 283197 NR_026946,AP003399,AP004243,CH471076,AK058123,BC029583,BX103095 EAW73894,EAW73895,EAW73896,Q8NCQ3,ABM82418,ABM85609 Hs.372650 MGC39681 miscrna 1603171 C11orf65 chromosome 11 open reading frame 65 17207965,21186350,16344560,16189514,15489334,12477932,19692168 160140 AK303096,BC029536,DB104722,NM_152587,AP005718,CH471065 EAW67118,BAG64206,AAH29536,Q8NCR3,ADQ32314,EAW67116,EAW67117,NP_689800 Hs.653180 MGC33948 hypothetical protein LOC160140 protein-coding 735928 C11orf66 chromosome 11 open reading frame 66 15489334,14702039,12477932,15018803,16344560 220004 NM_145017,AP003108,AK057333,BC043246,BC053995,BI561157,CH471076,DB047394,NM_001170753 NP_659454,BAB71432,AAH43246,AAH53995,Q7Z5V6,EAW73947,EAW73948,EAW73949,NP_001164224 Hs.313247 FLJ32771|IIIG9 IIIG9 protein|iiig9 protein protein-coding 1603054 C11orf67 chromosome 11 open reading frame 67 15489334,14702039,12477932,17207965,20379614 28971 NM_024684,AP000580,AP002812,CH471076,AF092136,AK024688,BC002752,BC016854,CR457332 NP_078960,EAW75036,EAW75037,EAW75038,EAW75039,AAD40378,BAB14963,AAH02752,AAH16854,CAG33613,Q9H7C9,ADQ32842 Hs.503357 CK067|FLJ21035|MGC3367|PTD015 hypothetical protein LOC28971 protein-coding 1602858 C11orf68 chromosome 11 open reading frame 68 16511166,16189514,15489334,12477932,8889548,16169070,17207965 83638 NM_001135635,NM_031450,AP006287,CH471076,AF073483,BC004414,BC010512,BC013185,BM705907,CR594297,CR595046,CR604272,CR607649,CR609409,CR620048,CR625973,CX866110 NP_001129107,NP_113638,EAW74470,EAW74471,AAG43171,AAH04414,AAH10512,AAH13185,Q9H3H3,ADQ31656 Hs.433573 BLES03|P5326 basophilic leukemia expressed protein BLES03 protein-coding 1602657 C11orf69 chromosome 11 open reading frame 69 15489334,14702039,12477932 120196 Q8TAY4 NM_152314,AL049629,CH471064,AK094307,BC025668 NP_689527,EAW68195,AAH25668,Q8TAY4 Hs.22270 MGC34830 protein-coding 1605606 C11orf70 chromosome 11 open reading frame 70 15489334,14702039,12477932 85016 NM_032930,AP001527,CH471065,AK094851,BC006128,BC054869,CR603911,BG700929,NM_001195005 NP_116319,EAW67009,EAW67010,AAH06128,AAH54869,Q7Z2V0,Q9BRQ4,NP_001181934 Hs.98328 MGC13040 hypothetical protein LOC85016 protein-coding 1604001 C11orf71 chromosome 11 open reading frame 71 15489334,14702039,12477932,17207965 54494 NM_019021,AP002373,CH471065,AK000017,BC009041,BC071695,CR457222,CR597454 NP_061894,EAW67245,BAA90886,AAH09041,AAH71695,CAG33503,Q6IPW1,ADQ31939 Hs.715083 FLJ20010 hypothetical protein LOC54494 protein-coding 1601925 C11orf72 chromosome 11 open reading frame 72 15489334,14702039,12477932 283135 Q8NBR9 NM_173578,AP003385,CH471076,CQ783922,AK075315,BC104448,BC104449 NP_775849,EAW74651,CAF86926,BAC11541,AAI04449,AAI04450,Q8NBR9 Hs.382074 FLJ90834|MGC129824|MGC129825 protein-coding 1604822 C11orf73 chromosome 11 open reading frame 73 15489334,14702039,12477932,11042152,9373149,8889549,19734545,8125298 51501 AK298763,BC001677,BC006476,BC015991,BC018080,BC021621,BE858273,BP423222,BX332668,CR592099,CR597617,CR606835,NR_024597,NR_024598,NR_024596,AP001148,CH471076,AA148558,AF151082,AF161487,AF161527,AK001447,AK125010,AK223198,NM_016401 BAG60905,AAH01677,AAH06476,AAH15991,AAH18080,AAH21621,Q53FT3,ABM83657,ABM86903,NP_057485,EAW75133,EAW75134,EAW75135,EAW75136,EAW75137,AAF36168,AAF29102,AAF29142,BAA91698,BAD96918 Hs.283322 FLJ43020|HSPC138|HSPC179|L7RN6 lethal, Chr 7, Rinchik 6 protein-coding 1603277 C11orf74 chromosome 11 open reading frame 74 14702039,12477932,18433331,17207965,19773279 119710 NM_138787,AC139427,CH471064,AK095997,AK290833,AK299642,AK302634,BC009561,BC051031,CR612900,CR618125,DQ121386 ADQ33126,NP_620142,EAW68112,EAW68114,EAW68115,EAW68116,BAF83522,BAG61565,BAG63876,AAH09561,AAH51031,AAZ29248,Q86VG3,EAW68113 Hs.159376 FLJ38678 HEPIS|hypothetical protein LOC119710 protein-coding 1601987 C11orf75 chromosome 11 open reading frame 75 10863097,15489334,12477932,17207965 56935 NM_020179,AP003499,AP004242,CH471065,AF197137,BC031564 NP_064564,EAW66901,EAW66902,EAW66903,EAW66904,EAW66905,AAF86046,AAH31564,Q9NRQ5,ADQ32449 Hs.438064 FN5 hypothetical protein LOC56935 protein-coding 1605958 C11orf80 chromosome 11 open reading frame 80 12477932,9373149 79703 NM_024650,AP000485,AP001157,CH471076,AK026184,AK225435,AK302025,BC028240,BE676873,BI559574,CR597582,CR602609,CR626111 NP_078926,EAW74562,EAW74563,BAB15387,BAG63423,AAH28240,Q8N6T0 Hs.292088 FLJ22531 putative uncharacterized protein C11orf80 protein-coding 1625825 C11orf81 chromosome 11 open reading frame 81 100073348 AK124467,AK124948 BAC85857,BAC86004,Q6ZV59,Q6ZVK4 Hs.595642,Hs.595659 FLJ42958 protein-coding 1602966 C11orf82 chromosome 11 open reading frame 82 17515607,16344560,14702039,12477932 220042 NM_145018,AP001646,CH471076,AA477171,AK023998,AK058145,AK096157,AK292399,AK297366,AK299581,BC039268,CR613676,DB023053,DB454086 NP_659455,EAW75077,BAB14764,BAB71685,BAF85088,BAG59813,BAG61516,AAH39268,ACE86786,Q8IXT1,ACE87472 Hs.165607 FLJ13936|FLJ25416|FLJ38838|noxin nitric oxide-inducible gene protein protein-coding 2298819 C11orf83 chromosome 11 open reading frame 83 15489334,15340161,12975309,12477932,8889548 790955 NM_001085372,AP001458,CS072473,AY358935,BC090057,BF055120,BG385605,CF131173,AI972746,CA422425 NP_001078841,CAI93611,AAQ89294,AAH90057,Q6UW78 Hs.569009 CCDS41658.1|MGC87549|UNQ655 VEGA:LOC790955|hypothetical protein LOC790955 protein-coding 1604233 C11orf84 chromosome 11 open reading frame 84 12477932,17207965 144097 NM_138471,AP006289,CH471076,BC002782,BC007540,BC056402,CR597472,CR602254,CR622295,CR749697 NP_612480,EAW74172,AAH02782,AAH07540,AAH56402,CAH18477,Q9BUA3,ADQ33061 Hs.502793 DKFZp762N0114 hypothetical protein LOC144097 protein-coding 1604186 C11orf85 chromosome 11 open reading frame 85 14702039,12477932 283129 NM_001037225,AP000436,AP001187,CH471076,AK093130,BC033501,BC106951,BC106952 NP_001032302,EAW74328,BAG52661,AAI06952,AAI06953,Q3KP22 Hs.567793 MGC126364 hypothetical protein LOC283129 protein-coding 2298933 C11orf86 chromosome 11 open reading frame 86 254439 AP003176,AK026328,NM_001136485 NP_001129957,A6NJI1 Hs.232604 FLJ22675 OTTHUMP00000204297|hypothetical protein LOC254439 protein-coding 1604683 C11orf87 chromosome 11 open reading frame 87 12477932,14702039,16344560 399947 NM_207645,AP000775,CH471065,AB096240,AK303693,BC035798,BC068577,CR623612,AK091086,DA221578,DA232989 NP_997528,EAW67125,BAG64681,AAH35798,AAH68577,Q6NUJ2 Hs.172982 FLJ33767|LOH11CR1A hypothetical protein LOC399947 protein-coding 1602158 C11orf88 chromosome 11 open reading frame 88 12477932 399949 NM_207430,NM_001100388,AP002008,CH471065,AI829856,AK128145,BC039505 NP_997313,NP_001093858,EAW67142,BAC87297,AAH39505,Q6PI97 Hs.411600 FLJ46266 hypothetical protein LOC399949 protein-coding 1315345 C11orf9 chromosome 11 open reading frame 9 12477932,12384578,10828591,10231032,9615227,19596243,19913121,20628086 745 NM_013279,NM_001127392,AC004770,AP002380,CH471076,AB023171,AF038536,AF086762,AK295013,BC004938,BC020196 NP_037411,NP_001120864,AAC23395,EAW73963,EAW73964,EAW73965,EAW73966,EAW73967,EAW73968,BAA76798,AAB92668,AAF28400,BAG58073,O60428,Q9Y2G1,AAI52732,AAI56715 Hs.473109 KIAA0954|MGC10781|MRF|Ndt80 myelin gene regulatory factor protein-coding 2301112 C11orf90 chromosome 11 open reading frame 90 16554811 387804 NM_001144871,AP001894,CH471065,DY654877,DY655155 NP_001138343,EAW66922,A8MXK1 Hs.512252 Uncharacterized protein ENSP00000381277|hypothetical protein LOC387804 protein-coding 2301118 C11orf91 chromosome 11 open reading frame 91 11181995 100131378 NM_001166692,AL049629,CH471064,AB231759,AB231760 NP_001160164,EAW68194,BAE46895,BAE46896,Q3C1V1 Hs.709466 hypothetical protein LOC100131378 protein-coding 1602159 C11orf92 chromosome 11 open reading frame 92 20530476,20638935,20648012,18753146,19843678,20501757,18372901 399948 NG_027686,AP002448,AB096245,AK127703,CR936778,NR_034154 Q6ZS62 Hs.125166 DKFZp781P19126|FLJ45803 hypothetical protein LOC399948 miscrna 2798065 C11orf93 chromosome 11 open reading frame 93 10737800,12477932,14702039,15489334,16344560,18372901,19240061,21071539 120376 NM_001136105,AK292195,AP002448,BC042557,BC110079,BF811304,DA307321 A8K830,AAI10080,BAF84884,NP_001129577 Hs.31409 Uncharacterized protein LOC120376|hypothetical protein LOC120376 protein-coding 3543119 C11orf94 chromosome 11 open reading frame 94 11181995 143678 AC068385,CH471064,CS110276,NM_001080446,CS441543 C9JXX5,CAJ09917,EAW68025,NP_001073915,CAL68853 Hs.193741 hypothetical protein LOC143678 protein-coding 2910589 C11orf95 chromosome 11 open reading frame 95 12477932,14702039 65998 AB231750,AB231751,AB231752,AK096306,AP006289,BC000572,BC021866,BC033262,BC065479,NM_001144936 BAE46893,C9JLR9,NP_001138408 Hs.191073 MGC3032 hypothetical protein LOC65998 protein-coding 4108561 C11orf96 chromosome 11 open reading frame 96 12477932 387763 AC087521,BC052560,NM_001145033 AAH52560,NP_001138505,Q7Z7L8 Hs.714890 AG2 protein Ag2 homolog protein-coding 1350875 C12orf10 chromosome 12 open reading frame 10 16996721,19014353,15146197,12477932,15231748,20377893,17207965 60314 BC051871,NM_021640,AC073611,CH471054,AA972697,AF111805,AF289485,AK293449,BC013956,BC028904,BM551107,CN308888,CR614390,CR626228 NP_067653,EAW96687,EAW96688,EAW96689,EAW96690,AAL39007,AAG17847,BAG56948,AAH13956,AAH28904,AAH51871,Q86UA3,Q8WYI2,Q96CT6,Q9HB07,ADQ33071 Hs.655988 MST024|MSTP024|MYG|MYG1 MYG1 protein|melanocyte related protein-coding 1342865 C12orf11 chromosome 12 open reading frame 11 17081983,16344560,16189514,15489334,14702039,12601173,12477932,12414650,9373149,8889548,8125298,15737938 55726 NM_018164,AC024093,CH471094,AF274950,AK001222,AK001492,AK001499,AK225336,AL137401,AY211927,BC003081,BC008368,BM684866,CR612853,DB239903,AK297948 NP_060634,EAW96538,EAW96539,AAK07527,BAA91565,BAA91721,BAA91725,CAB70726,AAO65180,AAH03081,AAH08368,Q9BZT6,Q9NVM9,Q9NW22,BAG60263 Hs.505077 FLJ10630|FLJ10637|NET48 cell cycle regulator Mat89Bb homolog|sarcoma antigen NY-SAR-95 protein-coding 1606687 C12orf12 chromosome 12 open reading frame 12 16189514,12477932 196477 HC006804,HC044817,AC078873,CH471054,BC024183,BC026075,BC027600,BC034491,NM_152638 CBH19208,CBH30738,NP_689851,EAW97443,AAH24183,AAH26075,AAH27600,AAH34491,Q8TC90 Hs.128574 MGC26598 hypothetical protein LOC196477 protein-coding 1351175 C12orf15 chromosome 12 open reading frame 15 404282 1602311 C12orf23 chromosome 12 open reading frame 23 15489334,14702039,12477932,17207965 90488 NM_152261,AC007541,CH471054,AK001731,AK021783,AK022770,AK024021,AL117658,BC020522,CR591522,DB458911 NP_689474,EAW97790,EAW97791,BAG50970,BAG51051,BAG51112,BAG51252,AAH20522,Q8WUH6,ADQ32421 Hs.257664 FLJ11721|FLJ13959|MGC17943 hypothetical protein LOC90488 protein-coding 1607038 C12orf24 chromosome 12 open reading frame 24 16344560,12477932,9373149,9110174,8619474 29902 NM_013300,AC002350,CH471054,AK225731,AK296280,AK297684,AK308802,AK309603,AU129789,BC020967,BF114636,CR457001,CR595487,CR602160,CR622888,CR622941,CR623239,CR623722,U79274 NP_037432,EAW97915,EAW97916,EAW97917,BAG58989,BAG60044,AAH20967,CAG33282,AAB50215,Q8WUB2,ABM82726,ABM85910 Hs.436618 HSU79274 hypothetical protein LOC29902|protein predicted by clone 23733 protein-coding 1602087 C12orf26 chromosome 12 open reading frame 26 15489334,14702039,12477932,11329013,16344560,20379614 84190 NM_032230,AC083811,AC089998,CH471054,AK026442,AK310231,BC029120,BG186273,DB059865 NP_115606,EAW97381,EAW97382,BAB15484,AAH29120,Q8N6Q8 Hs.506222 FLJ22789 hypothetical protein LOC84190 protein-coding 1603347 C12orf27 chromosome 12 open reading frame 27 18940312,14702039 283460 NR_024345,AC079602,CH471054,AK096009 EAW98225,BAC04671 Hs.612351 C12orf27|FLJ38690 miscrna 1603259 C12orf28 chromosome 12 open reading frame 28 18951430,15489334,14702039,12477932 196446 XM_001716650,AC025263,AC078922,CH471054,AK057785,BC101820,BC143553,XM_001718908,XM_001718058 XP_001716702,EAW97243,BAB71571,AAI01821,AAI43554,Q96LU7,XP_001718960,XP_001718110 Hs.253773 C12orf15|FLJ25056|MGC126869|bcm1377 hypothetical protein LOC196446 protein-coding 1606480 C12orf29 chromosome 12 open reading frame 29 16381901,15489336,14702039,12477932,11230166,11076863 91298 NM_001009894,AC091516,CH471054,AK095477,AK311153,AK311222,AL049382,AL137488,BC035136,BC058014,BC092422,BX537868,BX640968,BX648026,CR936776 NP_001009894,EAW97409,EAW97410,EAW97411,EAW97412,BAC04555,CAB70767,AAH35136,AAH58014,AAH92422,CAD97870,CAE45983,CAH10541,Q8N999,CAL37802 Hs.591009 DKFZp313K0436|DKFZp434N2030|DKFZp686L04169|FLJ38158|MGC102978 hypothetical protein LOC91298 protein-coding 1605042 C12orf30 chromosome 12 open reading frame 30 MDM20 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM] 17353931,18978792,18570629,17554260,14702039,12477932,17554300,19565500,19660095,20089178,20203524,20549515,20962850 80018 AC073575,CH471054,AA653507,AB054990,AK023151,AK292485,AK307494,AK309772,AL832394,AV760516,BC034357,BC047640,BC065481,BC095484,BC113585,BC113587,BX641140,BX647450,BX647992,CR590884,CR605595,NM_024953,NG_017071 NP_079229,EAW97993,EAW97994,BAC80174,BAB14432,BAF85174,AAH34357,AAI13586,AAI13588,CAE46062,Q14CX7 Hs.530941 C12orf30|DKFZp667K2112|FLJ13089|MDM20|NAP1 N-alpha-acetyltransferase 25, NatB auxiliary subunit|N-terminal acetyltransferase B complex subunit NAA25|mitochondrial distribution and morphology 20|natB complex subunit MDM20 protein-coding 1602857 C12orf32 chromosome 12 open reading frame 32 14702039,12477932,11414747,16344560,15489334,15221005,20811708 83695 NR_027363,NR_027364,NR_027365,AC005911,AF386144,AF386429,AF386459,CH471116,AB073599,AK021945,AK304613,AK315364,BC000079,BC005106,CR595083,CR600164,CR602379,CR606868,CR613904,CR616209,CR623393,DA965227 AAM46246,AAM46518,AAM46547,EAW88879,BAD38639,BAH14225,Q9BSD3 Hs.198853 HKMT1188|MGC13204 miscrna 4108161 C12orf33 chromosome 12 open reading frame 33 12477932,15489334 253128 AC007436,AK123808,BC028195,CH471116,NR_034140 AAH28195,BAG53963,EAW88592,Q8N6U2 FLJ41814|MGC40170 miscrna 1605921 C12orf34 chromosome 12 open reading frame 34 15489334,14702039,12477932 84915 NM_032829,AC007834,CH471054,AK027627,AK074806,BC007844,BC020193,BC037221,CR626164,DN994281 NP_116218,EAW97874,EAW97875,BAB55244,BAC11219,AAH37221,Q5U5X8 Hs.661785 FLJ14721 hypothetical protein LOC84915 protein-coding 1605655 C12orf35 chromosome 12 open reading frame 35 14702039,12477932,10997877,8889548,12421765,17567985,20379614 55196 NM_018169,AC016957,AC023050,CH471116,AB046771,AK000688,AK000703,AK001514,AK092399,AV750733,BC098115,BC114509,BC114956,BC140819,BM711484,BP872820,CA419041,CR626331 NP_060639,EAW88537,EAW88538,BAB13377,BAA91330,BAA91734,AAH98115,AAI14510,AAI14957,AAI40820,Q9HCM1 Hs.445129 FLJ10652|FLJ20696 OTTHUMP00000158617|hypothetical protein LOC55196 protein-coding 1606927 C12orf36 chromosome 12 open reading frame 36 15489334,14702039,12477932,8889548 283422 AC022276,CH471094,AK091129,BC101220,BC101222,BC101223,BG421494,BU676022,NR_036555,AK307179 EAW96307,BAC03590,AAI01221,AAI01223,AAI01224,Q495D7 Hs.448717 FLJ33810|FLJ97127|MGC120140 putative uncharacterized protein C12orf36 miscrna 1602615 C12orf37 chromosome 12 open reading frame 37 439916 AC078873,AC123024,AC123025,AK058107,XM_001134418,XM_001134426 XP_001134426,BAB71669,Q96LM1,XP_001134418 Hs.350600 FLJ25378 protein-coding 1606773 C12orf39 chromosome 12 open reading frame 39 12477932,18029348,19193193,19132080,17284679,16303743,15489334,14702039 80763 NM_030572,AC006559,CH471094,CS051133,AK027273,AK075342,AK311147,AK311217,BC004336 NP_085049,EAW96444,EAW96445,CAI72062,BAG51298,BAG52117,AAH04336,Q9BT56 Hs.130692 MGC10946 NPQ|spexin protein-coding 1322478 C12orf4 chromosome 12 open reading frame 4 20558539,12477932,11062477,15489334 57102 NM_020374,AC005832,AC008012,AC092826,CH471116,AJ272205,AK024811,AK074479,AL834377,BC016908,BX641128 NP_065107,EAW88845,EAW88846,CAC01126,CAD39040,AAH16908,CAE46058,Q9NQ89 Hs.302977 FLJ21158|FLJ23899 hypothetical protein LOC57102 protein-coding 1606924 C12orf40 chromosome 12 open reading frame 40 14702039,12477932 283461 NM_001031748,AC121336,AC125491,CH471111,AK097445,AL705293,BC038754,BC048120,BI461967 NP_001026918,EAW57808,EAW57809,EAW57810,BAC05057,AAH38754,AAH48120,Q86WS4 Hs.648205 FLJ40126 hypothetical protein LOC283461 protein-coding 1606280 C12orf41 chromosome 12 open reading frame 41 17081983,16344560,15489334,15302935,14702039,14637001,12477932,8889548 54934 AC079951,CH471111,AK000443,AK022732,AK094528,AL834467,BC009746,BC013900,BG760446,BM672156,CR606255,CR616133,CR617830,DA278834,NM_017822 NP_060292,EAW57991,EAW57992,EAW57993,EAW57994,EAW57995,EAW57996,BAA91169,BAB14211,CAD39126,AAH09746,AAH13900,Q9H9L4 Hs.505412 FLJ12670|FLJ20436 hypothetical protein LOC54934 protein-coding 1606876 C12orf42 chromosome 12 open reading frame 42 20659153,16344560,15489334,14702039,12477932,20379614 374470 NM_001099336,NM_198521,AC084364,AC090000,AC126176,CH471054,AA992269,AK058052,BC039352,BC044617,BC117392,BC117394,BI830750,DB027973,DB045383 NP_001092806,NP_940923,EAW97704,EAW97705,EAW97706,EAW97707,EAW97708,EAW97709,BAB71641,AAH44617,AAI17393,AAI17395,Q96LP6,ADR83362 Hs.534649 FLJ25323|MGC43592|MGC57409 hypothetical protein LOC374470 protein-coding 1603965 C12orf43 chromosome 12 open reading frame 43 21203500,18940312,17081983,15489334,14702039,12477932,9373149,9110174,8619474,8125298,19198612 64897 NM_022895,AC079602,CH471054,AK022510,AK222630,AK225162,AK299170,AK301566,AK307971,BC014661,CR604606,CR618697 NP_075046,EAW98229,EAW98230,EAW98231,EAW98232,EAW98233,BAB14068,BAD96350,BAG61216,BAG63061,AAH14661,Q96C57 Hs.528671 FLJ12448 hypothetical protein LOC64897 protein-coding 1602213 C12orf44 chromosome 12 open reading frame 44 19287211,15342556,14702039,12477932,16712791,19597335,20562859 60673 NM_021934,NM_001098673,AC025259,CH471111,AF218031,AK021835,BC005151,BC009937,BP309508,CB137838,CR597986,CR599287 NP_068753,NP_001092143,EAW58229,EAW58230,AAG17273,BAB13907,AAH05151,AAH09937,Q9BSB4 Hs.9911 ATG101|FLJ11773 Atg13-interacting protein|autophagy-related protein 101 protein-coding 1606744 C12orf45 chromosome 12 open reading frame 45 15489334,12477932,17643375 121053 NM_152318,AC090051,CH471054,BC032326,BG829346 NP_689531,EAW97754,AAH32326,Q8N5I9,ABM82575,ABM85764 Hs.295563 MGC40397 hypothetical protein LOC121053 protein-coding 2292059 C12orf47 chromosome 12 open reading frame 47 14702039,12477932 51275 NR_015404,AC003029,CH471054,AF229831,AK096935,BC007973,BC015633,BC023547,BC032560,CR620831 EAW97977,EAW97978,AAF42916,BAC04904,Q8N8E1 Hs.333120 FLJ39616 miscrna 1605996 C12orf48 chromosome 12 open reading frame 48 15489334,14702039,12477932,16344560,20931645,19893584,20379614 55010 NM_017915,AC079907,AC087882,CH471054,AF274940,AK000648,AK300041,AK302724,AK303571,BC014313,BC018903,BC030962,BC050696,BC070270,BC098297,BC099734,BC099844,BC098313,AA757264,DB260405 NP_060385,EAW97690,EAW97691,EAW97692,AAK07517,BAA91306,BAG61852,BAG63943,BAG64592,AAH18903,AAH30962,AAH50696,AAH70270,AAH98313,AAH99734,AAH99844,Q9BZU5,Q9NWS1 Hs.330663 AROM|FLJ20641|PARPBP PARP-1 binding protein|hypothetical protein LOC55010 protein-coding 1602859 C12orf49 chromosome 12 open reading frame 49 9373149,12477932 79794 NM_024738,AC090013,AC125603,CH471054,AK025068,AK222983,AK298857,AK309652,BC019843,CR625981 NP_079014,EAW98088,EAW98089,BAB15058,BAD96703,BAH12886,AAH19843,Q9H741 Hs.592011 FLJ21415 hypothetical protein LOC79794 protein-coding 1317526 C12orf5 chromosome 12 open reading frame 5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq] 11256614,18945750,16839880,16839873,16140933,16012775,15489336,15489334,12477932,11076863,11062477,19684603,19713938,16381901 57103 NM_020375,AC006122,AC008012,CH471116,AJ272206,AK313226,AY425618,BC012340,BX098281,CR613889,DB480618 NP_065108,EAW88849,EAW88850,CAC01127,BAG36037,AAQ98969,AAH12340,Q9NQ88,CAL37493 Hs.504545 TIGAR TP53-induced glycolysis and apoptosis regulator|probable fructose-2,6-bisphosphatase TIGAR|transactivated by NS3TP2 protein protein-coding 1605567 C12orf50 chromosome 12 open reading frame 50 14702039,12477932,20379614,17207965 160419 AC090060,AC091516,CH471054,AK093140,AL833338,BC038413,BC062424,NM_152589,HC006980 NP_689802,EAW97406,EAW97407,EAW97408,BAC04071,AAH38413,AAH62424,Q8NA57,ADQ32974,CBH19295 Hs.112930 FLJ35821 hypothetical protein LOC160419 protein-coding 1606926 C12orf51 chromosome 12 open reading frame 51 14702039,12477932,9734811,19396169,20379614 283450 NM_001109662,AC004031,AC004217,AC073575,CH471054,AB014514,AF174498,AK001372,AK054654,AK091473,AL117469,BC006270,BC021144,BC065706,BC101482,BC143384,BC143388,AF086006,AC004086 NP_001103132,EAW97998,EAW97999,EAW98000,BAA31589,AAF36539,BAC03671,CAB55944,AAH06270,AAH21144,AAH65706,AAI01483,AAI43385,AAI43389,Q9Y4D8 Hs.695995,Hs.690159 DKFZp586O1022|FLJ10510|FLJ30092|FLJ30208|FLJ34154|KIAA0614|MGC126531 AF-1 specific protein phosphatase|probable E3 ubiquitin-protein ligase C12orf51|transmembrane protein C12orf51 protein-coding 1602853 C12orf52 chromosome 12 open reading frame 52 14702039,12477932,9373149,9110174,8619474,21102556,17207965,8125298 84934 NM_032848,AC089999,CH471054,AK027733,AK027741,AK075358,AK123762,AK222908,AY007158,BC022092,CR594289,CR595506,CR596541,CR597629,CR600183,CR605763,CR606890,CR608011,CR617377,CR621332,CR621376,CR622111,CR622791,CR625812 NP_116237,EAW98041,EAW98042,BAB55328,BAB55333,BAC11568,BAG53956,BAD96628,AAH22092,Q96K30,ADQ31897 Hs.524762 FLJ14827|RITA RBP-J interacting and tubulin associated|hypothetical protein LOC84934 protein-coding 1606434 C12orf53 chromosome 12 open reading frame 53 14702039,12975309,12477932 196500 AK095854,AK289648,AL831874,AY358534,BC035736,NM_153685,AC125494,CH471116,AK056295,AK091596,AK091656 BAG52398,BAG53145,BAF82337,AAQ88898,AAH35736,Q8IYJ0,NP_710152,EAW88750,EAW88751,EAW88752,EAW88753,EAW88754,BAG51669,BAG52388 Hs.44067 DKFZp547D2210 hypothetical protein LOC196500 protein-coding 1606175 C12orf54 chromosome 12 open reading frame 54 15489334,12477932 121273 NM_152319,AC089987,CH471111,AY255793,AY255794,BC031670,BF510008,BQ429029,HC007156 NP_689532,EAW57984,EAW57985,EAW57986,AAP15250,AAP15251,AAH31670,Q6X4T0,CBH19383 Hs.98202 HSD-29|HSD-30|MGC35033 hypothetical protein LOC121273 protein-coding 1603180 C12orf55 chromosome 12 open reading frame 55 12477932,14702039,20966902 144535 AK091789,BC041426,XM_001715090,XM_001131723,XM_001717983,AC007513,AC008118,AK056076,AK307646 XP_001715142,XP_001131723,XP_001718035,BAB71089,Q96N23 Hs.535389 FLJ31514|FLJ34470 chromosome 12 open reading frame 55|hypothetical protein LOC144535 protein-coding 1603368 C12orf56 chromosome 12 open reading frame 56 12477932,20379614 115749 NM_001099676,AC012158,AC135279,BC014352,BC015121,BC039369,BX089271,NM_001170633 NP_001093146,AAH39369,Q8IXR9,NP_001164104 Hs.535190 hypothetical protein LOC115749 protein-coding 1606749 C12orf57 chromosome 12 open reading frame 57 19204726,15489334,12477932,9445485,9074930 113246 NM_138425,CH471116,U47924,AK311912,BC009925,CR620372 NP_612434,EAW88705,AAB51329,BAG34853,AAH09925,Q99622 Hs.405913 C10|GRCC10 C10|likely ortholog of mouse gene rich cluster, C10|protein C10 protein-coding 1606983 C12orf59 chromosome 12 open reading frame 59 16344560,14702039,12975309,12477932 120939 NM_153022,AC115676,CH471094,AK055728,AY358845,BC098571,BC131523,BE301029,CR623668,DA621425 NP_694567,EAW96162,EAW96163,BAB70998,AAQ89204,AAH98571,AAI31524,Q4KMG9 Hs.226422 FLJ31166|MGC111385 hypothetical protein LOC120939 protein-coding 1606152 C12orf60 chromosome 12 open reading frame 60 15489334,12477932 144608 NM_175874,AC007655,CH471094,AK289942,BC015546,BC029443,BC038836,CR592987 NP_787070,EAW96330,BAF82631,AAH15546,AAH29443,AAH38836,Q5U649 Hs.659951 MGC47869 hypothetical protein LOC144608 protein-coding 1606929 C12orf61 chromosome 12 open reading frame 61 12477932 283416 NM_175895,AC026115,AC048341,CH471054,AK098456,BC038738,BC136288 NP_787091,EAW97110,BAC05309,AAH38738,AAI36289,Q8N7H1 Hs.375881 FLJ25590 putative uncharacterized protein C12orf61 protein-coding 1602844 C12orf62 chromosome 12 open reading frame 62 15489334,12477932,17207965,20877624 84987 NM_032901,AC025154,AC074032,CH471111,AK312180,BC007849 NP_116290,EAW58130,BAG35113,AAH07849,Q96I36,ADQ32419 Hs.388645 MGC14288 hypothetical protein LOC84987 protein-coding 1603337 C12orf63 chromosome 12 open reading frame 63 20379614,16344560,14702039 374467 AC007564,AC008118,CH471054,AK126100,DB225896,XM_003118942,XM_003119541,XM_003120736 EAW97575,BAC86439,Q6ZTY8,AAI48604,AAI53168,XP_003118990,XP_003119589,XP_003120784 Hs.436197 FLJ44112 chromosome 12 open reading frame 63|putative uncharacterized protein C12orf63 protein-coding 1603526 C12orf64 chromosome 12 open reading frame 64 14702039,12477932,20379614 283310 AC078817,AC083812,AC092945,CH471054,AK075060,AK096852,BC101016,BC101017,BC101018,NM_173591 EAW97362,EAW97363,BAC11376,BAC04877,AAI01018,AAI01019,Q3ZCN5,NP_775862 Hs.723594 FLJ90579|MGC119410 chromosome 12 open reading frame 64|otogelin-like protein-coding 1605601 C12orf65 chromosome 12 open reading frame 65 17207965,20598281,14702039,12477932 91574 NM_152269,NM_001143905,AC068768,AC073857,CH471054,AF061733,AK025908,AK095982,BC018145,BC020885,BC062329,BI850864,CR612064,BU507560,NG_027517,NM_001194995 ADQ32685,NP_689482,NP_001137377,EAW98395,EAW98396,AAG43144,BAC04665,AAH18145,AAH20885,AAH62329,Q9H3J6,NP_001181924 Hs.319128 COXPD7|FLJ38663 probable peptide chain release factor C12orf65, mitochondrial protein-coding 1603179 C12orf66 chromosome 12 open reading frame 66 14702039,12477932,11752456 144577 NM_152440,AC012158,CH471054,AK057111,AK095383,AK129933,AV653957,BC036246,BC071634,CR604240,CR620910,W44639 NP_689653,EAW97124,BAB71367,AAH71634,Q96MD2 Hs.505871 FLJ32549 hypothetical protein LOC144577 protein-coding 1603360 C12orf67 chromosome 12 open reading frame 67 20639392,20339536,14702039,12477932,20062060 144360 BC104436,BC104437,AC087312,CH471094,AK057456,NR_029451 Q96M19,EAW96495,BAB71495 Hs.350668 FAM191B|FLJ32894|MGC129798|MGC129799 miscrna 1605794 C12orf68 chromosome 12 open reading frame 68 11076863,11256614,16381901,15489336,14702039,12477932,20379614 387856 NM_001013635,AC074029,CH471111,AK056003,AK056783,BC036801,BC049387,DB483736 NP_001013657,EAW57977,BAB71071,BAB71283,AAH36801,Q52MB2,CAL37738 Hs.251699 hypothetical protein LOC387856 protein-coding 2303335 C12orf70 chromosome 12 open reading frame 70 16541075 341346 NM_001145010,AC068794 NP_001138482,A6NFE2 Hs.282121 hypothetical protein LOC341346 protein-coding 2302460 C12orf71 chromosome 12 open reading frame 71 11181995 728858 NM_001080406,AC092747,CH471094 NP_001073875,EAW96548,A8MTZ7 Hs.334003 hCG1794298|hypothetical protein LOC728858 protein-coding 1602640 C12orf72 chromosome 12 open reading frame 72 12477932,16344560,17207965 254013 NM_001135864,NM_173802,NM_001135863,BC039535,CR607465,DA303137,BC039417,AC068774,CH471116,AK290248,AL832339,BC039107,AC023157 NP_001129336,NP_776163,NP_001129335,AAH39535,Q8IXQ9,AAH39107,EAW88545,EAW88546,EAW88547,EAW88548,BAF82937,ADQ33124 Hs.585084 MGC50559 hypothetical protein LOC254013 protein-coding 2301389 C12orf73 chromosome 12 open reading frame 73 14702039,12477932 728568 NM_001135570,AC078819,CH471054,AA563681,AK024037,AL359596,BC039467,BC044618,BC063467,BC073939,CR620733,FB746598,FB746692 NP_001129042,EAW97726,CAH10667,Q69YU5,CAT04625,CAT04659 Hs.42547 DKFZp547P055|FLJ13975 hypothetical protein LOC728568 protein-coding 2303686 C12orf74 chromosome 12 open reading frame 74 12477932,16344560 338809 NM_001037671,AC016136,CH471054,BC043363,BC043364,BC105728,BC107813,DB196554,NM_001178097 NP_001032760,EAW97470,AAI05729,AAI07814,Q32Q52,NP_001171568 Hs.326303 MGC125584 hypothetical protein LOC338809 protein-coding 2303668 C12orf75 chromosome 12 open reading frame 75 14702039,12477932,11890990 387882 NM_001145199,AC011313,AC078874,AC127900,CH471054,AJ311377,AJ311378,AK056999,BC013920,BC045812,BC061920,BC067897,BC126980,BC127012,BC131552,BQ021766,CR592424,CR597208,CR606376,CR610289,CR622507 NP_001138671,EAW97765,EAW97766,CAC85392,CAC85391,AAH13920,AAH45812,AAH61920,AAH67897,AAI26981,AAI27013 Hs.368938 MGC148100|MGC149157|OCC-1 hypothetical protein LOC387882|overexpressed in colon carcinoma-1 protein-coding 1604429 C12orf76 chromosome 12 open reading frame 76 14702039,12477932 400073 NM_207435,AC007546,AK021447,AK097461,BC041968,BC046185,BC133010,BC133012,CR617550 NP_997318,BAC05063,AAI33011,AAI33013,Q8N812 Hs.44817 FLJ11385|FLJ40142 hypothetical protein LOC400073 protein-coding 3479035 C12orf77 chromosome 12 open reading frame 77 12477932 196415 AC023510,BC035880,BC046192,BC062789,CH471094,NM_001101339 C9JDV5,EAW96500,NP_001094809 Hs.434453 putative uncharacterized protein C12orf77 protein-coding 1348423 C12orf9 chromosome 12 open reading frame 9 12063392 93669 AF393503 1315052 C13orf1 chromosome 13 open reading frame 1 16344560,16341674,15489334,15057823,12665801,12477932,12010815,11771308,11306461,9110174,8619474 57213 NR_023351,NM_001127482,NM_020456,AL136123,CH471075,CS185647,AF052154,AF055016,AF334405,AK290576,AK308818,AK316576,BC007076,BC022519,BM828692,CR603490,CR614894,DA388141,DN992366 NP_001120954,NP_065189,CAH71578,EAX08840,EAX08841,EAX08842,EAX08843,CAJ42828,AAC09363,AAK38371,BAF83265,BAG38165,AAH22519,Q5W111 Hs.44235 CLLD6 CLL deletion region gene 6 protein|chronic lymphocytic leukemia deletion region gene 6 protein protein-coding 733140 C13orf15 chromosome 13 open reading frame 15 This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq] 9756947,19270026,19162005,19158077,18308847,17146433,17081983,15932515,15713436,15591621,15489334,15057823,14702039,12477932,11687586,8889548,20635389,19652095,19883641 28984 NM_014059,AL354833,CH471075,AF036549,AK091099,AK095079,BC066334,BU679672,DB451897 NP_054778,CAC13101,EAX08663,EAX08664,AAF04336,AAH66334,Q9H4X1 Hs.507866 KIAA0564|MGC87338|RGC-32|RGC32|bA157L14.2 response gene to complement 32 protein|rgc32 protein protein-coding 1353968 C13orf16 chromosome 13 open reading frame 16 21102462,19240061,15489334,15057823,12477932,17207965 121793 NM_152324,AL160395,CH471085,BC029889 NP_689537,CAH74150,EAX09151,EAX09152,AAH29889,Q8N6K0,ADQ31675 Hs.210677 MGC35169|bA474D23.1 hypothetical protein LOC121793 protein-coding 1312654 C13orf18 chromosome 13 open reading frame 18 20562859,18987618,18649358,16344560,15489334,15057823,14702039,12766061,12477932,8889548,19843677 80183 NM_025113,AL139801,CH471075,AK025215,AK093073,AK125750,AK125950,AK293034,AK307854,AK310264,BC004495,BC021097,BC032311,BC043488,BG054617,BM682058,BX401854,BX641126,CD679213,CR590165,DB151884,DB152553,DC330997,AK300183 NP_079389,CAH71680,CAH71682,CAH71683,EAX08762,EAX08763,EAX08764,BAB15086,BAG52649,BAC86358,BAF85723,AAH04495,AAH43488,Q5W050,Q6ZU68,Q9H714,BAH13230 Hs.98117 FLJ21562|FLJ43762 OTTHUMP00000018366|OTTHUMP00000198242|OTTHUMP00000205782|hypothetical protein LOC80183 protein-coding 1319730 C13orf23 chromosome 13 open reading frame 23 18246054,16344560,15489334,15057823,14702039,12477932,17761849,20379614 80209 NM_170719,NM_025138,AL445590,CH471075,AA598728,AB107354,AK022723,AK024308,AK074360,AL522407,AL833854,AL834435,BC042652,BC053566,BC064348,BX647471,CR592489,DA106195,DA786460,DR001207,AK299663 NP_733837,NP_079414,CAI40974,CAI40975,CAI40976,EAX08610,EAX08611,BAC67659,BAB14204,CAD38713,CAD39095,AAH53566,AAH64348,CAH56138,Q5JS36,Q86XN7,BAH13093 Hs.318526 FLJ12661|FLJ23780|RP11-50D16.2|bA50D16.2 hypothetical protein LOC80209 protein-coding 1603922 C13orf26 chromosome 13 open reading frame 26 15489334,15057823,12477932,17207965 122046 NM_152325,AL353680,CH471075,BC030277 NP_689538,CAH71735,EAX08475,AAH30277,Q8N6G2,ADQ31591 Hs.124463 MGC40178 hypothetical protein LOC122046 protein-coding 1605014 C13orf27 chromosome 13 open reading frame 27 15489334,15342556,15057823,12477932,9110174,8619474,17207965 93081 NM_138779,AL157769,CH471085,AA401719,AF070559,AK314995,BC015148,BC048011,BP363423,CR611685,CR614484 NP_620134,CAI14521,CAI14522,CAI14523,CAI14524,EAX09064,EAX09065,EAX09066,BAG37491,AAH15148,Q5JUR7,ADQ32815 Hs.398111 OTTHUMP00000018669|OTTHUMP00000018670|OTTHUMP00000018671|hypothetical protein LOC93081 protein-coding 1606982 C13orf28 chromosome 13 open reading frame 28 15489334,15057823,12477932,20379614 122258 NM_145248,AL160033,CH471085,AK130866,BC016750,CR594241,AI219896 CAI14451,CAI14452,CAI14453,CAI14454,EAX09162,AAH16750,Q96KW9,NP_660291 Hs.97592 FLJ27356 putative uncharacterized protein C13orf28 protein-coding 2307246 C13orf29 chromosome 13 open reading frame 29 15489334,12477932 283487 NR_027701,AL157875,AJ295981,AK307956,AL831965,BC093904,BC104998,BX647632 CAC82494,AAH93904,AAI04999,Q8IVM7 Hs.245390 FLJ97904 miscrna 1605573 C13orf30 chromosome 13 open reading frame 30 16344560,15489334,14702039,12477932,8889548 144809 NM_182508,AL137138,AL138819,CH471075,AK098238,AK310859,BC093659,BC112237,CB240730,DA592345,DB221838 NP_872314,EAX08682,BAC05268,AAH93659,AAI12238,Q8N7L0,CAM17952,ADR82823 Hs.16970 FLJ40919|MGC138442 hypothetical protein LOC144809 protein-coding 1602651 C13orf31 chromosome 13 open reading frame 31 19068216,16344560,14702039,12477932,15489334,17207965,18587394,19834535,20018961,20473688,19760754 144811 NM_153218,NM_001128303,AL512506,CH471075,AK096044,BC035749,BX503941,BX538036,DA332005,DR001026 NP_694950,NP_001121775,EAX08701,BAC04686,AAH35749,CAD97980,Q7Z395,Q8IV20,ADQ31766,CAM22538,CAM22539 Hs.210586 DKFZp686D11119|FLJ38725|RP11-5G9.2 hypothetical protein LOC144811 protein-coding 1605918 C13orf33 chromosome 13 open reading frame 33 15489334,15057823,14702039,12477932,17207965 84935 NM_032849,AL353680,CH471075,AB055407,AK027740,AK055635,BC040165,BC101624,BC101626 NP_116238,CAH71733,CAH71734,EAX08473,EAX08474,BAC53805,BAB70975,AAH40165,AAI01625,AAI01627,Q5VYS3,Q5VYS4,ADQ32958 Hs.708377,Hs.147880 FLJ14834|MGC126673|MGC126675 OTTHUMP00000018206|hypothetical protein LOC84935 protein-coding 1605625 C13orf34 chromosome 13 open reading frame 34 BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM] 19487276,18615013,18566290,18521620,18378770,16890155,15489334,15057823,14702039,12477932,11935316,16169070,19596235,19615732,20923822 79866 AL138695,CH471093,AK026277,AK291496,AK298608,AK300758,BC007119,BC025367,BC044213,BC056876,BM923278,BX648605,CR617422,CR625945,NM_024808,EU834129 NP_079084,CAH72712,CAH72713,EAW80514,EAW80515,BAB15426,BAF84185,BAG60792,BAG62424,AAH07119,AAH25367,AAH44213,AAH56876,ACH72049,Q6PGQ7,ACE87621,ACE87680,ACE87694,ACE86935,ACE86991,ACE87006 Hs.643464 BORA|FLJ22624|RP11-342J4.2 aurora borealis|hsBora|protein aurora borealis protein-coding 1601909 C13orf35 chromosome 13 open reading frame 35 20858683 400165 NM_207440,AL139384,CH471085,AK129953 NP_997323,CAM23751,EAX09168,BAC85256,Q6ZP68 Hs.591213 FLJ26443 putative uncharacterized protein C13orf35 protein-coding 1601910 C13orf36 chromosome 13 open reading frame 36 20379614,12477932,12107410,17207965 400120 NM_203451,AL136160,CH471075,AK294236,BC036540,BI544475,CA392022,DC425828 NP_982276,CAM13388,EAX08568,BAG57534,AAH36540,A2A2V5,ADQ32380 Hs.422375 MGC33996|RP11-16L6.1 hypothetical protein LOC400120 protein-coding 2300357 C13orf37 chromosome 13 open reading frame 37 12477932,20360068 440145 NM_001071775,AL138695,AL356754,AK025522,BC013405,BC047655,BC062361,BC080523,BC125183 NP_001065243,CAH72711,CAH70226,AAI25184,Q08AG7 Hs.28465 C13orf37|FLJ21869|MGC150539|MOZART1|MZT1|RP11-11C5.2 mitotic-spindle organizing protein 1|mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1 protein-coding 2302126 C13orf38 chromosome 13 open reading frame 38 14702039,12477932,11181995 728591 NM_001144981,NM_001144982,NM_001144983,NM_001144984,NM_001144985,NM_001144986,AL139377,CH471075,AK023568,AK131058,AK308999,BC013944,BC037403,BC146975,BC171867,BC171872,BC171874,BC171880,BC171881,BC171882,BC171884,DB454585,DN999189,AA861917,NM_001198908 NP_001138453,NP_001138454,NP_001138455,NP_001138456,NP_001138457,NP_001138458,CAC17477,CAC17478,EAX08553,EAX08557,AAI46976,AAI71867,AAI71872,AAI71874,AAI71880,AAI71881,AAI71882,AAI71884,A6NNP5,NP_001185837 Hs.656745,Hs.720832 FLJ13506|FLJ29024|FLJ57222 OTTHUMP00000018256|OTTHUMP00000018257|OTTHUMP00000221741|OTTHUMP00000221742|OTTHUMP00000221743|OTTHUMP00000221744|OTTHUMP00000221745|RP11-251J8.1|hypothetical protein LOC728591 protein-coding 1606433 C13orf39 chromosome 13 open reading frame 39 12477932 196541 NM_001010977,AL158063,CH471085,BC132748,BC132750,CR595660 NP_001010977,CAH72181,EAX09060,EAX09061,EAX09062,AAI32749,AAI32751,Q5VZV1,ADR83125 Hs.508623 hypothetical protein LOC196541 protein-coding 4109693 C13orf40 chromosome 13 open reading frame 40 11181995,14702039,15057823 643677 AK097495,AK125984,AL157769,AL833499,AL833908,CH471085,NM_001146197 BAC05076,CAD38764,EAX09063,NP_001139669,Q8NDH2 Hs.368382 DKFZp434L2319|DKFZp686P1429|FLJ40176|FLJ43996 hypothetical protein LOC643677 protein-coding 4889302 C13orf41 chromosome 13 open reading frame 41 20379614 100288679 AL359757,XM_002343245,XM_002344720,XM_002347392 CAH70806,O00249,Q5VX57,XP_002343286,XP_002344761,XP_002347433 Hs.550143 chromosome 13 open reading frame 41 protein-coding 1321865 C14orf1 chromosome 14 open reading frame 1 16344560,10449901,11256614,16381901,16169070,15489336,15489334,12958361,12508121,12477932,11910120,11230166,11160377,11076863,11042152,10967139,10931946 11161 AC007182,CH471061,AF134159,AF136971,AF161406,AK311764,AL136658,BC002444,BX248022,CR533443,CR596661,CR597566,CR603410,CR604759,NM_007176,AA709128,DB030511 NP_009107,AAD51373,EAW81237,EAW81238,AAD54079,AAG49432,AAF28966,BAG34707,CAB66593,AAH02444,CAD62345,CAG38474,Q6FII3,Q86TW5,Q9UKR5,CAL38319,CAL38706 Hs.15106 ERG28|NET51 probable ergosterol biosynthetic protein 28 protein-coding 1318960 C14orf100 chromosome 14 open reading frame 100 19269966,18784250,16381901,16166642,15489336,15489334,11230166,11076863,11042152,14702039,12800201,12477932,20379614 51528 NM_016475,NM_001098625,AL121694,AL159140,AL162471,CH471061,AA461198,AF151047,AF161445,AF212245,AF529304,AK021683,AK056145,AK298209,AL136696,BC005198,BC010359,BX161501,CR457163,CR533510,CR594163,CR596184,CR605227,CR612457,CR615396,DC381037,AK027591 NP_057559,NP_001092095,EAW80753,EAW80754,EAW80755,EAW80756,EAW80757,EAW80758,AAF36133,AAF29005,AAG41781,AAP85636,BAB13874,BAB55216,BAG51634,BAG60479,CAB66631,AAH05198,AAH10359,CAD61945,CAG33444,CAG38541,Q9P055,CAL37437,CAL37512 Hs.446850 C14orf100|CDA06|HSPC213|HSPC327|JAMP JNK-associated membrane protein|JNK1-associated membrane protein|JNK1/MAPK8-associated membrane protein|Jun N-terminal kinase 1-associated membrane protein|medulloblastoma antigen MU-MB-50.4 protein-coding 1354503 C14orf101 chromosome 14 open reading frame 101 15489334,14702039,12477932 54916 AK023885,AK056291,AK293099,AK295989,AK309920,BC008949,BC023579,BC045556,BC121163,BC121164,BX647387,CR615494,NM_017799,AL161757,AL355103,CH471061,AK000399 BAA91139,BAG51235,BAG51667,BAF85788,BAG58764,AAI21164,AAI21165,Q0IJ48,Q0VAA1,Q9NX78,NP_060269,EAW80691 Hs.497253 FLJ20392 hypothetical protein LOC54916 protein-coding 1351142 C14orf102 chromosome 14 open reading frame 102 17353931,14702039,12508121,12477932 55051 NM_199043,NM_017970,AL161662,CH471061,AK000870,AK024113,AK094807,AK127843,AK294958,AL832941,AW196499,BC008925,BC021805,BC033136,BC098568,BC109040,BC118673,BC122532,CR605863,R54506 NP_950244,NP_060440,EAW81422,EAW81423,EAW81424,EAW81425,BAA91404,BAB14830,BAG58032,CAH56334,AAH98568,AAI18674,Q0VFW7,Q4G0A7,Q658X2,Q9H7Z3 Hs.528131 FLJ10008|FLJ14051 hypothetical protein LOC55051 protein-coding 1321142 C14orf104 chromosome 14 open reading frame 104 The KTU gene encodes a protein conserved in animals and ciliated unicellular organisms involved in preassembly of dynein arm complexes in species from algae to humans (Omran et al., 2008 [PubMed 19052621]).[supplied by OMIM] 19052621,15489334,14702039,12477932,12508121 55172 NM_001083908,NM_018139,AL139099,CH471078,AK001425,BC011400,BC013322,BX092175,BX248264,BX248765,CR619602,FJ158843,NG_013070 NP_001077377,NP_060609,EAW65755,EAW65756,EAW65757,BAA91684,AAH11400,AAH13322,CAD62592,CAD66572,ACN30493,Q9NVR5 Hs.231761 CILD10|FLJ10563|KTU kintoun|protein kintoun protein-coding 1350908 C14orf105 chromosome 14 open reading frame 105 14702039,12477932,9373149,8125298,20379614 55195 BC117405,BC143565,BC143566,BC143567,BC143568,BI760135,NM_018168,AL161804,AL355834,CH471061,AK001512,AK223127,AK307238,BC028060 AAH28060,AAI17406,AAI43567,AAI43568,Q05C89,Q17R99,Q9NVL8,NP_060638,EAW80706,EAW80707,BAA91732,BAD96847,ADR83122 Hs.659706 FLJ10650 hypothetical protein LOC55195 protein-coding 1313558 C14orf106 chromosome 14 open reading frame 106 18029348,17339379,17199038,17081983,16565220,15489334,14702039,12477932,11572484,10976766 55320 NM_018353,AL121809,CH471078,AB067490,AJ242977,AK002048,AW971491,BC051885,BC065544 NP_060823,EAW65777,EAW65778,EAW65779,EAW65780,BAB67796,CAB45134,AAH51885,AAH65544,Q6P0N0 Hs.437941 FLJ11186|HSA242977|KIAA1903|KNL2|MIS18BP1 P243|hsKNL-2|kinetochore-associated protein KNL-2 homolog|mis18-binding protein 1|putative protein p243 which interacts with transcription factor Sp1 protein-coding 1349199 C14orf109 chromosome 14 open reading frame 109 15489334,12477932 26175 AW404266,BC030119,BP398505,CX785861,NM_015676,NM_001098621,AL110118,CH471061,AL080118 AAH30119,Q8N6I4,NP_056491,NP_001092091,EAW81517,EAW81518,CAB45717 Hs.275352,Hs.726212 DKFZp564F1123 hypothetical protein LOC26175 protein-coding 1343911 C14orf113 chromosome 14 open reading frame 113 54792 Q9NXV8 AK000041 BAA90900,Q9NXV8 Hs.675410 FLJ20034 protein-coding 1347442 C14orf115 chromosome 14 open reading frame 115 18029348,15489334,12477932,14702039 55237 NM_018228,AC005519,CH471061,CS300723,AK001673,AK023213,BC053325,CX165172 NP_060698,EAW81173,CAK32387,BAA91826,BAB14466,AAH53325,Q9H8Y1 Hs.578167 C14orf115|FLJ10811|vertnin hypothetical protein LOC55237 protein-coding 1318945 C14orf118 chromosome 14 open reading frame 118 17903302,16344560,15489334,14702039,12477932,10574461,20379614 55668 NM_017926,AC008015,AC016526,CH471061,AB032978,AK000696,AK000895,AK023523,AL712469,AU144095,AW005132,BC038835,NM_017972,BE778470,BX387502,BX476104,CR593970,CR612584,CR623792,BC058032 NP_060442,NP_060396,AAF03244,AAG38637,EAW81250,EAW81251,EAW81252,EAW81253,EAW81254,EAW81255,EAW81256,BAA86466,BAA91325,BAA91411,BAG51204,AAH58032,Q9NWQ4,Q9ULA8 Hs.410231 FLJ10033|FLJ20689|MGC61896 hypothetical protein LOC55668 protein-coding 1318193 C14orf119 chromosome 14 open reading frame 119 15489334,18029348,14702039,12477932,16169070 55017 NM_017924,AL117258,CH471078,AF061731,AK000678,BC009645,BC056255,BC061637,CR457248,CR595757,CR607655,CR611338,CR611802,CR618010,CR620909,CR622831,AK024794 NP_060394,EAW66185,AAG43142,BAA91320,AAH09645,AAH56255,AAH61637,CAG33529,Q9NWQ9 Hs.525238 FLJ20671|FLJ21141|MGC74723 My028 protein|chromosome 14 open reading frame 119 protein-coding 1319312 C14orf126 chromosome 14 open reading frame 126 15489334,14702039,12477932,8889548 112487 NM_080664,AL139353,AL163973,CH471078,AK022703,AK055367,BC010618,BI553940,BU675173 NP_542395,EAW65944,EAW65945,EAW65946,AAH10618,Q96FN9 Hs.116014 MGC9912 probable D-tyrosyl-tRNA(Tyr) deacylase 2 protein-coding 1344910 C14orf128 chromosome 14 open reading frame 128 16341674,15489334,12477932 84837 NR_027263,AL161665,CH471078,AF147421,AI493138,AK314153,BC007251,BM745256 EAW65939,BAG36839,Q96IT6,EAW65940 Hs.496755 MGC15504 miscrna 1318256 C14orf129 chromosome 14 open reading frame 129 17353931,16981698,15489334,14702039,12508121,12477932,11042152,19830702 51527 NM_016472,AL359240,CH471061,AF151044,AK000796,AK094654,AK314423,BC004818,CR608981 NP_057556,EAW81634,EAW81635,AAF36130,BAA91380,BAG52902,AAH04818,Q9P0R6 Hs.4104 GSKIP|HSPC210|MGC4945 GSK3-beta interaction protein|GSK3beta interaction protein protein-coding 1350098 C14orf132 chromosome 14 open reading frame 132 16344560,15489334,14702039,12477932,9110174,8619474 56967 AL137190,CH471061,AF131832,AK001590,AK022021,AK025915,AK074462,AK313017,AL390130,BC042922,BC043593,BC067267,CR603350,DA328471,NR_023938 EAW81626,EAW81627,EAW81628,BAG35852,CAB99085,Q9NPU4 Hs.6434 DKFZp761F2014|FLJ10728|FLJ93483 miscrna 1351893 C14orf133 chromosome 14 open reading frame 133 16344560,8889549,20578233,19109425,16189514,15592455,15489334,15345747,14702039,12508121,12477932,9373149,8125298,20190753 63894 AA010625,AW629161,DA794284,NG_023421,NM_001193314,NM_001193315,NM_001193316,NM_001193317,NM_022067,AF111168,CH471061,AK022769,AK022925,AK024661,AK098254,AK222706,AK297388,AK298354,BC015054,CR457294,CR607042,CR610207 NP_001180243,NP_001180244,NP_001180245,NP_001180246,NP_071350,AAD09624,EAW81286,EAW81287,EAW81288,EAW81289,EAW81290,BAB14237,BAB14310,BAB14951,BAG53601,BAD96426,BAG59829,BAG60598,AAH15054,CAG33575,Q53H75,Q6IA61,Q9H9C1 Hs.16157 C14orf133|FLJ12707|SPE-39|SPE39|VPS16B|hSPE-39 SPE-39 protein|VPS33B-interacting protein|VPS33B-interacting protein involved in polarity and apical protein restriction|protein spe-39 homolog protein-coding 1348042 C14orf135 chromosome 14 open reading frame 135 12477932,11230166,14702039,18029348,16237761,16189514,15489334 64430 NM_022495,AL157911,AL163853,CH471061,AA651916,AK022861,AK023008,AK095489,AL136581,AY553876,BC030714,BC033843,BX648440,CR598754 NP_071940,EAW80768,BAB14277,BAG51148,CAB66516,AAS64574,AAH33843,CAH56141,Q63HM2 Hs.509499 FBP2|FLJ12799|FLJ38170 HCV F protein-binding protein 2|HCV F-interacting protein|OTTHUMP00000197211|OTTHUMP00000197214|hepatitis C virus F protein-binding protein 2|pecanex-like protein C14orf135 protein-coding 1314724 C14orf138 chromosome 14 open reading frame 138 15489334,14702039,12477932 79609 NM_001040662,NM_024558,AL109758,AK023982,AK129564,BC027585,BC105118,BC143673,BC143674,BI753530,BI767189,BX247997,CR597030,CR601939 NP_001035752,NP_078834,BAB14752,BAC85183,AAI05119,AAI43674,AAI43675,CAD62329,Q9H867 Hs.558541 FLJ13920 hypothetical protein LOC79609 protein-coding 1353573 C14orf139 chromosome 14 open reading frame 139 15489334,14702039,12477932,16169070 79686 NR_026779,AL138539,CH471061,AK024929,BC008299,CR457337 EAW81600,BAB15037,CAG33618,Q9H761 Hs.41502 FLJ21276 miscrna 1346081 C14orf142 chromosome 14 open reading frame 142 15489334,12477932 84520 NM_032490,AL110118,CH471061,AF277185,BC021733,BC065216,BC107429,BC109390,BF131439,CR590920,CR613456 NP_115879,EAW81519,EAW81520,AAK07544,AAH21733,AAH65216,AAI07430,AAI09391,Q9BXV9 Hs.20142 MGC104244|MGC133207|PNAS-127 hypothetical protein LOC84520 protein-coding 1343471 C14orf143 chromosome 14 open reading frame 143 14702039,12477932,21105107 90141 NM_145231,AL137128,AL137230,AL163011,CH471061,AK094740,AK298930,AK310331,AL832321,BC001787,BX161414,BX247991,CF593330,CR619765 NP_660274,EAW81411,EAW81412,BAG52922,BAH12905,CAD38616,AAH01787,CAD61889,CAD62325,Q9BUY7 Hs.123232 DKFZp547I1415|FLJ51529 CG11165-like|EF-hand domain-containing protein C14orf143 protein-coding 1352890 C14orf144 chromosome 14 open reading frame 144 145195 XM_930354,XM_941225,AL590079,BC007749 XP_935447,XP_946318,AAH07749,Q96I85 Hs.679805 protein-coding 1344060 C14orf145 chromosome 14 open reading frame 145 20966902,18029348,16344560,14702039,12477932,20379614 145508 NM_152446,AC010072,AC018513,AC022404,AI857800,AI937080,AK056756,AK125925,AK309833,BC036939,BC045834,BC150610,BX248746,CD366820,DB320407 NP_689659,AAF86565,AAG17473,BAB71273,AAH36939,AAH45834,AAI50611,CAD66553,Q6ZU80,Q86TS1,Q8N3Z7,Q9HCB0,Q9NS50 Hs.162889 C14orf61 hypothetical protein LOC145508 protein-coding 1350858 C14orf147 chromosome 14 open reading frame 147 17207965,19416851,15489334,14702039,12477932,16169070 171546 NM_138288,AL356806,CH471078,AI765163,AK001993,AK315409,AL080066,BC016805,BC016808,BC021701,BC068480,CR616537 ADQ32400,NP_612145,EAW65923,EAW65924,BAG37801,AAH16805,AAH16808,AAH21701,AAH68480,Q969W0 Hs.727651 MGC24447|SSSPTA small subunit of serine palmitoyltransferase A protein-coding 1348173 C14orf148 chromosome 14 open reading frame 148 15489334,14702039,12508121,12477932,17207965 122945 HC006808,HC044735,NM_138791,NM_001113475,AC007954,AF111168,CH471061,AK057371,BC066965 CBH19210,CBH30697,NP_620146,NP_001106946,AAF62562,AAD09625,EAW81285,BAG51909,AAH66965,Q6NXP6,ADQ32961 Hs.97556 FLJ32809 pyrroline-5-carboxylate reductase-like protein C14orf148 protein-coding 1313918 C14orf149 chromosome 14 open reading frame 149 12477932,20379614 112849 NM_144581,AL159140,CH471061,AK058165,BC012131 NP_653182,EAW80752,BAB71696,AAH12131,Q96EM0 Hs.29706 FLJ25436 OTTHUMP00000218012|probable proline racemase|proline racemase-like protein-coding 1318068 C14orf151 chromosome 14 open reading frame 151 12665801,12477932 84800 CR612331,NM_032714,AL583722,CH471061,BC006173,BX248757 Q86TR7,Q9BRM1,NP_116103,EAW81872,AAH06173,CAD66564 Hs.317821 MGC13251 protein-coding 1312327 C14orf153 chromosome 14 open reading frame 153 16782708,15489334,15342556,12477932,9373149,8125298,20877624 84334 NM_032374,AL139300,CH471061,AK223092,AK223103,BC007412,BP317962,CA443899,CR619996 NP_115750,EAW81829,EAW81830,EAW81831,BAD96812,BAD96823,AAH07412,Q96IL0 Hs.598441 APOP1|MGC2562 OTTHUMP00000204662|apoptogenic 1|chromosome 14 open reading frame 153 protein-coding 1323602 C14orf156 chromosome 14 open reading frame 156 Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM] 20200222,17081983,16762838,16341674,15489334,12477932,19596235,19615732,19680543,20877624 81892 EL951262,NM_031210,AC008044,AC008372,CH471061,AF253980,AF271779,AJ272055,AY860853,BC017895,BQ083727 Q9GZT3,NP_112487,EAW81303,EAW81304,AAG44629,AAG44790,CAC81241,AAX58600,AAH17895,ADR82692 Hs.655105 DC50|PD04872|SLIRP SRA stem-loop-interacting RNA-binding protein, mitochondrial protein-coding 1323376 C14orf159 chromosome 14 open reading frame 159 16381901,16344560,15790807,15489336,15489334,14702039,12975309,12477932,11230166,11076863,9373149,8125298,20877624 80017 NM_001102366,NM_024952,NM_001102369,NM_001102368,NM_001102367,AL121784,AL135818,CH471061,AB210031,AK022564,AK023200,AK024603,AK091394,AK097262,AK097294,AK098752,AK123532,AK222531,AK308857,AL602721,AY358516,AY927602,BC009182,BC010614,BC065558,BX161393,BX247989,BX248060,BX248294,BX248782,BX537970,BX642394,BX647492,CR457289,DA296867,DA641301,DB258432,DR003467 NP_001095836,NP_079228,NP_001095839,NP_001095838,NP_001095837,EAW81441,EAW81442,EAW81443,EAW81444,BAE06113,BAB14102,BAB14458,BAB14932,BAC03653,BAG53449,BAG53908,BAD96251,AAQ88880,AAH09182,AAH10614,AAH65558,CAD61880,CAD62323,CAD62356,CAD62622,CAD66589,CAD97934,CAG33570,Q4LE40,Q53HP9,Q6IA66,Q7Z3D6,Q8NB88,CAL37996 Hs.309849 C14orf160|DKFZp686I02128|FLJ20950|FLJ39943|FLJ39975 hypothetical protein LOC80017 protein-coding 1350524 C14orf16 chromosome 14 open reading frame 16 414762 1354013 C14orf162 chromosome 14 open reading frame 162 15489334,12477932 56936 NR_024630,AL133445,CH471061,AF284217,AK312175,BC105025,BC105027,CR619831 EAW80999,AAF86288,BAG35108,Q9NQR7 Hs.458319 PLPL miscrna 1347248 C14orf164 chromosome 14 open reading frame 164 378704,100131781 AL049829,AL117258,CH471078,XM_001714931,XM_001716883,XM_001717132 A8MTL3,EAW66180,XP_001714983,XP_001716935,XP_001717184 RING finger protein C14orf164 protein-coding 1346815 C14orf165 chromosome 14 open reading frame 165 414767 NR_024081,AL136419,BX161431,CR615368 CAD61903,Q86U02 Hs.722541 CNSLT1I7G miscrna 1312305 C14orf166 chromosome 14 open reading frame 166 15147888,19152423,15635413,15489334,12477932,11507205,10810093,1602151,17643375 51637 CR626554,DQ525179,AL358333,CH471078,AF087877,AF100755,AF151857,AK312004,AY817175,BC001722,BF594675,CR594131,CR599997,CR605881,CR606480,CR606481,CR611728,CR621856,CR623591,NM_016039 ABF56619,Q549M8,Q5RLJ0,Q9Y224,ABZ92335,NP_057123,EAW65659,EAW65660,EAW65661,AAP97177,AAD43019,AAD34094,BAG34942,AAV54070,AAH01722 Hs.534457 CGI-99|CGI99|CLE|CLE7|LCRP369|RLLM1 RLL motif containing 1|homeobox prox 1 protein-coding 1351641 C14orf166B chromosome 14 open reading frame 166B 16344560,12477932,20379614 145497 NM_194287,AF111169,CH471061,AK058106,AK125722,AK301762,BC062799,BC121159,BC121160,BC143896,DB337977,DC397584 NP_919263,AAD44364,EAW81265,BAC86259,BAG63222,AAI21160,AAI21161,Q0VAA2 Hs.147276 hypothetical protein LOC145497 protein-coding 1351560 C14orf167 chromosome 14 open reading frame 167 737633 16344560,12477932 737633 55449 NR_023921,NR_023922,NR_023923,NR_023924,AF116636,BC013143,BC062348,BC080582,BF206895,BX247982,BX447332,BX647964,DA439818,DB254318,AL136419 AAF71059,CAD62316,Q86U40,Q9P1J3 Hs.569361 PRO1488 miscrna 1317046 C14orf169 chromosome 14 open reading frame 169 737633 17308053,19615732,19927124,15489334,14742713,14702039,12477932 737633 79697 NM_024644,AC005280,AK025455,AK299994,AY390535,BC011350,BC071954 NP_078920,BAB15138,BAG61814,AAR27292,AAH11350,AAH71954,Q9H6W3 Hs.509916 FLJ21802|MAPJD|NO66 MYC-associated protein with JmjC domain|hsNO66|lysine-specific demethylase NO66|nucleolar protein 66 protein-coding 1346998 C14orf17 chromosome 14 open reading frame 17 414763 1606691 C14orf174 chromosome 14 open reading frame 174 15489334,14702039,12508121,12477932 161394 BC104836,NM_001010860,AC007954,CH471061,AK093282,AK292571,BC104834 AAI04835,AAI04837,Q9P1V8,NP_001010860,AAF62561,EAW81284,BAF85260 Hs.421961 C14orf174|FAM15A|FLJ35963|MGC132494|MGC132496 SAM domain-containing protein C14orf174|family with sequence similarity 15, member A protein-coding 1626192 C14orf176 chromosome 14 open reading frame 176 8889549 643382 NM_001146683,AL161668,AA284798,AA284845 NP_001140155,P0C7T8 Hs.540107 C14orf95|NCRNA00220 transmembrane protein C14orf176 protein-coding 1606666 C14orf177 chromosome 14 open reading frame 177 12477932,14702039,15489334,17903294 283598 NM_182560,AL096821,CH471061,AK098639,BC093661,DB523204 Q52M58,NP_872366,EAW81658,EAW81659,BAC05361,AAH93661 Hs.448754 FLJ25773 chromosome 14 open reading frame 177|hypothetical protein LOC283598|putative uncharacterized protein C14orf177 protein-coding 1606667 C14orf178 chromosome 14 open reading frame 178 15489334,14702039,12477932 283579 NM_174943,AC008372,AK098842,BC107147,BC113929,BC113986,NM_001173978 NP_777603,BAC05432,AAI13930,Q8N769,NP_001167449 Hs.375834 FLJ25976|MGC129942 hypothetical protein LOC283579 protein-coding 1602079 C14orf179 chromosome 14 open reading frame 179 17207965,18029348,15489334,14702039,12508121,12477932 112752 NM_001102564,NM_052873,AC008015,AF107885,CH471061,AK056735,AK302944,AW439039,BC010436,BC042852,DB443802,DB497730 ADQ33216,NP_001096034,NP_443105,AAF03245,AAC79728,EAW81241,EAW81246,EAW81248,BAG51798,BAG64101,AAH10436,Q96FT9 Hs.532626 FLJ32173|MGC16028 hypothetical protein LOC112752 protein-coding 1603812 C14orf180 chromosome 14 open reading frame 180 14702039,12477932 400258 NM_001008404,BX927359,CH471061,AK095913,AK297818,AK309489,BC041103,BX161457,BX337634 BAC04645,NP_001008404,EAW81864,EAW81865,BAG60155,AAH41103,CAD61919,Q8N912 Hs.153827 C14orf77|FLJ38594 OTTHUMP00000028407|transmembrane protein C14orf180 protein-coding 1603813 C14orf181 chromosome 14 open reading frame 181 14702039,19430480,20378605,20379614 400223 NM_207442,AL132986,CH471061,AK097098,BP397993 NP_997325,EAW80970,BAC04948,Q8N8A1,AAI48846,AAI52899 Hs.655774 FLJ39779 putative uncharacterized protein C14orf181 protein-coding 1603254 C14orf182 chromosome 14 open reading frame 182 14702039,12477932,20379614 283551 NM_001012706,AL117692,CH471078,AK090420,AK091232,BC058283,BC128083,BC144351 NP_001012724,EAW65738,BAC03401,AAI28084,AAI44352,Q8NF59,A1A4T8 Hs.660867 MGC149108 hypothetical protein LOC283551 protein-coding 2859192 C14orf184 chromosome 14 open reading frame 184 14702039 650662 AF318368,AK091161,AL133373,NM_001080113 AAL55875,NP_001073582,Q8WYT3 Hs.638530 FLJ33842|PP8961 putative uncharacterized protein C14orf184 protein-coding 1353136 C14orf19 chromosome 14 open reading frame 19 280655 NR_002937,AL049776,AY168620 Hs.639271 pseudo 1352128 C14orf2 chromosome 14 open reading frame 2 1298632 16344560,15489334,12477932,11042152,9653160,16712791 1298632 9556 NM_004894,NM_001127393,AL132712,CH471061,AF054175,AF116639,AK309355,AK309499,AK310120,AK312099,BC000429,BC001944,BC047289,BC063419,BX161388,CB127906,CR593417,DA526965 NP_004885,NP_001120865,EAW81849,EAW81850,EAW81851,EAW81852,AAC39909,AAF71062,BAG35035,AAH00429,AAH01944,CAD61878,P56378 Hs.109052 MP68|PLPM 6.8 kDa mitochondrial proteolipid protein-coding 1318142 C14orf21 chromosome 14 open reading frame 21 18029348,17081983,15635413,15489334,12508121,12477932,19913121,20628086 161424 NM_174913,AL096870,CH471078,AB095941,AK123717,BC015481,BC025332,BX248018,BX647311,CR593232,CR619293 NP_777573,EAW66034,EAW66035,BAC23117,BAG53945,AAH25332,CAD62343,CAI46005,Q5HYL4,Q86U38 Hs.708040 KIAA2021 pumilio domain-containing protein C14orf21 protein-coding 1350643 C14orf22 chromosome 14 open reading frame 22 387977 AI278049,N48783 Hs.143441 protein-coding 1352241 C14orf23 chromosome 14 open reading frame 23 16341674,20802204 387978 NR_026731,NR_026732,AL049777,AI204146,BM839073,BX111279,BX248251 CAD62579,Q86U37 Hs.633254 c14_5148 miscrna 1345600 C14orf25 chromosome 14 open reading frame 25 100499441 BF063203,AL121790,AL136296,AL163151,XR_110282,XR_111426,XR_114739 Hs.659936 C14orf25 chromosome 14 open reading frame 25 miscrna 1348871 C14orf26 chromosome 14 open reading frame 26 8889549 400208 AK125955,AA029430 Hs.660501 protein-coding 1316923 C14orf28 chromosome 14 open reading frame 28 16341674,15489334,12477932 122525 NM_001017923,AL049870,CH471078,AF250395,AK126985,BC030258,BC105030,BC105032,BM849739,BU624091,CR602151 NP_001017923,EAW65796,AAQ14261,AAH30258,AAI05031,AAI05033,Q4W4Y0,Q8N0U0 Hs.82098 DRIP1|c14_5270 dopamine receptor interacting protein 1|hypothetical protein LOC122525 protein-coding 1351913 C14orf30 chromosome 14 open reading frame 30 161342 BG121773 1353594 C14orf33 chromosome 14 open reading frame 33 16344560 100129075 NR_027123,AL138499,AL356801,AK124927,BX248296,CR614588,DA616132 CAD62624,Q86SY8 Hs.633724 miscrna 1312543 C14orf34 chromosome 14 open reading frame 34 645687 NR_026797,NR_026796,AL355773,BG104219,BU171486,BU178088 Hs.569345 miscrna 1351933 C14orf37 chromosome 14 open reading frame 37 15489334,12477932,20379614 145407 AL049838,AL121579,CH471061,AK292513,AK292605,AK294599,BC013707,BC062772,BC146861,BX161411,BX161448,BX649130,NM_001001872 Q86TY3,NP_001001872,EAW80712,EAW80713,BAF85202,BAF85294,BAG57786,AAH62772,AAI46862,CAD61887,CAD61913 Hs.535420 c14_5376 hypothetical protein LOC145407 protein-coding 1347710 C14orf38 chromosome 14 open reading frame 38 122847 AB069994 1350418 C14orf39 chromosome 14 open reading frame 39 14702039,15703187,12477932 317761 NM_174978,AL122057,AL132778,CH471061,AK098187,AL832219,BC125070,BC125071,DB447488,EB388156 NP_777638,EAW80780,EAW80781,BAC05253,AAI25071,Q08AQ4,Q8N1H7 Hs.335754 MGC149706|Six6os1 protein SIX6OS1|six6 opposite strand transcript 1 protein-coding 1322211 C14orf4 chromosome 14 open reading frame 4 19690564,11095982,17627301,17081983,15345747,15302935,12508121,12477932,12029088,11347906,8889548,19022886 64207 NM_024496,AC007686,AJ277365,AB058768,AF063597,AI377523,AI821684,AL832320,AW001869,BC042460,BC108292,BI765830,BM690017,BM744266,CB852902 NP_078772,CAC10539,BAB47494,AAG43156,CAD38615,Q9H1B7 Hs.179260 EAP1|IRF2BPL|KIAA1865 enhanced at puberty 1|enhanced at puberty protein 1 protein-coding 1347411 C14orf40 chromosome 14 open reading frame 40 319109 BE348955 1344999 C14orf41 chromosome 14 open reading frame 41 14702039 440187 AK055876,BG654811 Hs.525443 c14_5527 protein-coding 1342722 C14orf42 chromosome 14 open reading frame 42 161380 BF109853 1314547 C14orf43 chromosome 14 open reading frame 43 17081983,16344560,15489334,14702039,12508121,12477932,18029348,20936779 91748 NM_001043318,NM_194278,AC005520,AC006146,CH471061,AK024978,AK090424,AK095434,AK127785,BC003121,BC006451,BC006511,BC009202,BC015668,BC025330,BC034345,BC036475,BC047633,BC052976,BC062730,BC105996,BG177343,DA096012,DN999792 NP_001036783,NP_919254,EAW81127,EAW81128,BAC03405,AAH06511,AAH09202,AAH15668,AAH25330,Q6PJG2,Q8NF55 Hs.727609 C14orf117|FLJ00335|LSR68|c14_5541 OTTHUMP00000197182|OTTHUMP00000197183|hypothetical protein LOC91748 protein-coding 1346239 C14orf45 chromosome 14 open reading frame 45 18029348,17081983,15489334,14702039,12477932 80127 NM_025057,AC005484,CH471061,AK026842,AK097531,AL834487,BC044808,BC104979,BC104981,DB484577,DB493409 NP_079333,EAW81157,BAB15572,BAG53483,CAD39145,AAI04980,Q8ND07,AAI04982 Hs.644621 FLJ23189 hypothetical protein LOC80127 protein-coding 1344728 C14orf48 chromosome 14 open reading frame 48 16189514,15489334,15014966,14702039,12477932 256369 NR_024182,NR_024183,NR_024184,AL079302,CH471061,AA412651,AK097741,AL157489,BC021728,BC031252,DB446670,BI458986 EAW81544,EAW81545,EAW81546,BAC05156,Q8NCU1 Hs.143845 DKFZp434O1910|MGC33356|c14_5713 miscrna 1312072 C14orf49 chromosome 14 open reading frame 49 18827015,16330710,14702039,12508121,12477932,8889548,18396275 161176 NM_152592,AL138539,AK098471,AK131436,BC061899,BC146604,BM701154,BX248076,BX342493,BX346277,BX648302 NP_689805,BAC05312,BAD18582,AAH61899,AAI46605,CAD62365,Q6P714,Q6ZMZ3 Hs.354645 FLJ25605|MGC75267|NET53 nesprin-3 protein-coding 1319175 C14orf50 chromosome 14 open reading frame 50 15489334,14702039,12477932 145376 NM_172365,AL049869,CH471061,AK058044,AK130365,BC068989 NP_758953,EAW80868,BAB71637,AAH68989,Q96LQ0 Hs.144696 hypothetical protein LOC145376 protein-coding 1346214 C14orf51 chromosome 14 open reading frame 51 338000 1604895 C14orf53 chromosome 14 open reading frame 53 12477932 440184 NR_024338,NR_024339,AL355093,CH471061,BC033546,BC056671,BC070365 EAW80921,EAW80922 Hs.412138 C14orf53|MGC88374 miscrna 1345289 C14orf55 chromosome 14 open reading frame 55 10524237 317760 NG_002465,AF158638,AL357153 pseudo 1344838 C14orf56 chromosome 14 open reading frame 56 14702039 89919 XM_001718387,XM_001715980,XM_001716301,AC004817,AC005476,AK024445 XP_001718439,XP_001716032,XP_001716353,BAB15735,Q9H7N3 Hs.551210 FLJ00035 protein-coding 1348818 C14orf57 chromosome 14 open reading frame 57 11483580 317787,317787 CH471061 EAW81073,Q9H367 chromosome 14 open reading frame 57 protein-coding 1343204 C14orf60 chromosome 14 open reading frame 60 338001 1348359 C14orf62 chromosome 14 open reading frame 62 317786 1350937 C14orf63 chromosome 14 open reading frame 63 145249 1353623 C14orf64 chromosome 14 open reading frame 64 14702039,12477932 388011 NR_015430,AL352981,AK091668,AK097943,BC043585,BX647564 Hs.651477 miscrna 1343261 C14orf67 chromosome 14 open reading frame 67 196860 1345966 C14orf68 chromosome 14 open reading frame 68 19303656,15322095,15221005,14702039,12477932,20877624 283600 NM_207117,AL157871,CH471061,AB073385,AK092001,AY569438,AY570298,BC137253,BC137254,BC144549,BX248260,CR607410,CR624455 NP_997000,EAW81696,EAW81697,EAW81698,EAW81699,BAD38636,BAG52460,AAS80155,AAS77211,AAI37254,AAI37255,CAD62588,Q6Q0C1 Hs.108268 C14orf68|HDMCP|HMFN1655 hepatocellular carcinoma down-regulated mitochondrial carrier protein|hepatocellular carcinoma-downregulated mitochondrial carrier protein|solute carrier family 25 member 47 protein-coding 1353145 C14orf7 chromosome 14 open reading frame 7 378821 AI027773 1354296 C14orf70 chromosome 14 open reading frame 70 14702039,12477932 283601 NR_024096,AL132711,CH471061,AK094097,BC132989,BC132991,BX161445 EAW81709,CAD61912,Q86TU6 Hs.379802 miscrna 1345483 C14orf71 chromosome 14 open reading frame 71 338002,338002 AA843471 Hs.124848 chromosome 14 open reading frame 71 protein-coding 1352219 C14orf72 chromosome 14 open reading frame 72 11181995 145200 NR_026774,AL355032,CH471061,AI304659,BX113211,CK904714 EAW81751 Hs.150840 C14orf72 miscrna 1349636 C14orf73 chromosome 14 open reading frame 73 15489334,12477932 91828 NM_001077594,AL161669,AK000671,BC113655,BC117375,BX279908 NP_001071062,AAI13656,AAI17376,Q17RC7,ADR83343 Hs.37712 SEC6-like protein C14orf73 protein-coding 1346717 C14orf74 chromosome 14 open reading frame 74 254299 1354345 C14orf77 chromosome 14 open reading frame 77 145323 1316438 C14orf79 chromosome 14 open reading frame 79 12477932,16112646,15489334,14702039,12508121,9110174,8619474 122616 AL512802,CH471061,AF038188,AK057249,BC003539,BC011537,BC025175,BC137495,BC144671,NM_174891 NP_777551,EAW81890,EAW81891,EAW81892,AAH03539,AAI37496,Q96F83 Hs.27183 hypothetical protein LOC122616 protein-coding 1322363 C14orf80 chromosome 14 open reading frame 80 14702039,12477932,20562859 283643 NM_001134875,NM_001134876,NM_001134877,AL928654,CH471061,AK024506,AW236560,BC016028,BX161477,BX248038,BX248074,BX248283,CR601083,CR602316,CR616658,CR618931,CR621008,CR621976,CR623408,CR623931,NM_001198983 NP_001128347,NP_001128348,NP_001128349,EAW81929,BAB15796,AAH16028,CAD61932,CAD62351,CAD62363,CAD62611,Q86SX3,Q86TT4,NP_001185912 Hs.720306 MGC16771 OTTHUMP00000028466|OTTHUMP00000163913|OTTHUMP00000211269|OTTHUMP00000211271|hypothetical protein LOC283643 protein-coding 1353513 C14orf81 chromosome 14 open reading frame 81 153514 1344152 C14orf82 chromosome 14 open reading frame 82 11181995,14702039 145438 BX104826,CH471078,NR_037676,W44516,XM_003118924,XM_003119567,XM_003120782,AL079307,AL122125,AK022437 EAW65672,XP_003118972,XP_003119615,XP_003120830,P0C7T7 Hs.645410 FLJ12375 chromosome 14 open reading frame 82 miscrna 1348278 C14orf83 chromosome 14 open reading frame 83 15489334,14702039,12477932 161145 NM_182526,AL132640,AL139785,CH471061,AK056646,AK074690,AK090706,BC104940,BC104942,CR593485,CR614270 NP_872332,EAW80938,EAW80939,BAC03507,AAI04941,AAI04943,Q8NBD8 Hs.509707 C14orf83|FLJ33387 transmembrane protein 229B protein-coding 1350885 C14orf84 chromosome 14 open reading frame 84 161159 1345866 C14orf86 chromosome 14 open reading frame 86 12477932 283592 AL132642,NR_027004,AK125743,BC029883,BC037859 Hs.585648 miscrna 1352699 C14orf88 chromosome 14 open reading frame 88 91813 1350207 C14orf89 chromosome 14 open reading frame 89 378881,378881 AA861571,AL132709 Hs.451159 C14orf89 miscrna 1354469 C14orf91 chromosome 14 open reading frame 91 51217 AF113687 1348927 C14orf93 chromosome 14 open reading frame 93 18029348,16344560,15489334,14702039,12477932 60686 NM_001130708,NM_001130706,AL132780,CH471078,AK022216,AK023026,BC014299,BX161383,BX161417,BX161474,BX161507,CR594518,CR604681,CR609428,CR612609,CR614026,NM_021944,DA818572,CR626012 NP_068763,NP_001124180,NP_001124178,EAW66196,EAW66197,EAW66198,EAW66199,EAW66200,EAW66201,EAW66202,EAW66203,BAB13988,BAB14363,AAH14299,CAD61874,CAD61892,CAD61930,CAD61946,Q9H972 Hs.255874 FLJ12154 OTTHUMP00000164563|OTTHUMP00000164564|OTTHUMP00000164566|OTTHUMP00000164567|hypothetical protein LOC60686 protein-coding 1352318 C14orf95 chromosome 14 open reading frame 95 338003 1347542 C14orf97 chromosome 14 open reading frame 97 338004,338004 AW205017,NR_033375,AB019439 Hs.525652 C14orf97 miscrna 1343544 C14orf98 chromosome 14 open reading frame 98 9841928,11181995 338005,338005 AB019438,AK058096,BX161407,BX248748,CH471061,DB461309,NG_001019,NR_027457 CAD61886,CAD66555,EAW82003,Q86TR5 Hs.322826,Hs.617172 C14orf98|FLJ25367 chromosome 14 open reading frame 98 miscrna 1351050 C14orf99 chromosome 14 open reading frame 99 317730 1354202 C15orf13 chromosome 15 open reading frame 13 170479 1321800 C15orf17 chromosome 15 open reading frame 17 737633 14702039,12477932,11214971,15489334 737633 57184 AC125435,CH471136,AK000005,AK001572,AK025373,AK291020,AK296403,AK308954,BC006348,BC015637,BC064575,BQ632184,DC306755,NM_020447 EAW99289,EAW99290,EAW99291,EAW99292,EAW99293,EAW99294,BAA92230,BAF83709,BAG59069,AAH15637,Q5XKK7,NP_065180 Hs.367690 FLJ00005 hypothetical protein LOC57184 protein-coding 1351928 C15orf2 chromosome 15 open reading frame 2 10783265,17337158,18627056,19066619,19843651,20020165 23742 NM_018958,AC100720,AF179681,CH471151,NG_021413 NP_061831,AAF72107,EAW57612,Q9NZP6,AAI48367 Hs.649663 protein C15orf2 protein-coding 1351115 C15orf21 chromosome 15 open reading frame 21 15027122,14702039,12477932,12727900 283651 AC025580,AC090527,AK096745,AY271964,AY271965,AY271966,AY271967,BC062412,NR_022014 BAC04856,AAP12643,AAP12644,AAP12645,AAP12646 Hs.574240 C15orf21|D-PCa-2|FLJ39426 pseudo 1344647 C15orf23 chromosome 15 open reading frame 23 737633 15231747,16730941,15855057,15489334,14702039,12477932 737633 90417 NM_001142761,NM_033286,NM_001142762,AC013356,CH471125,AK027408,AK125765,AK298156,AK301887,AW156972,AY652615,BC004543,BC014060,BC021124,BC045739,BC064344,BC107802,BC118559,BC118639,CR602848,CR611451,CR617477,CR619353,CR621728,DC396708,U81002 NP_001136233,NP_150628,NP_001136234,EAW92409,EAW92410,EAW92411,EAW92412,BAG60430,BAG63319,AAT66172,AAH04543,AAH14060,AAH45739,AAH64344,AAI07803,AAI18560,AAI18640,AAD24201,Q9Y448 Hs.525796 FLJ14502|HSD11|MGC141728|MGC141729|TRAF4AF1 TRAF4 associated factor 1|putative TRAF4-associated factor 1 protein-coding 1312839 C15orf24 chromosome 15 open reading frame 24 737633 10873569,12975309,18029348,17165166,15489334,12477932 737633 56851 NM_020154,AC069045,AC079203,CH471125,AF242729,AJ245874,AJ250344,AK314883,AY358445,BC012456,BC104934,BC104936,CR596314,CR603501,CR610167,CR626206 NP_064539,EAW92284,EAW92285,EAW92286,AAG44477,CAC01611,CAB96539,BAG37397,AAQ88810,AAH12456,AAI04935,AAI04937,Q9NPA0 Hs.160565 C11orf3|HT022|ORF1-FL1 chromosome 15 hypothetical ATG/GTP binding protein|chromosome 15 open reading frame 24 protein-coding 1321239 C15orf26 chromosome 15 open reading frame 26 737633 15489334,14702039,12477932 737633 161502 NM_173528,AC036196,AC068870,CH471136,AK095934,AK307565,BC062471,AK302120 NP_775799,EAW99102,EAW99103,EAW99104,BAC04653,AAH62471,Q6P656,BAG63498 Hs.130979 FLJ38615 hypothetical protein LOC161502 protein-coding 1351477 C15orf27 chromosome 15 open reading frame 27 16572171,16344560,15489334,15342556,14702039,12477932 123591 NM_152335,AC091100,CH471136,AK054866,AK058126,AK095509,AK308676,BC104953,BC104955,BP369654,BQ009353,BX398159,DA090797,DA483185,DR007145 NP_689548,EAW99224,EAW99225,BAG51435,BAB71676,BAC04562,AAI04954,AAI04956,Q2M3C6 Hs.661411 FLJ30304|FLJ38190 transmembrane protein C15orf27 protein-coding 1343834 C15orf28 chromosome 15 open reading frame 28 14702039,12477932 80035 NR_026808,AC087639,CH471082,AK021784,BC132845,BC136847 EAW77826,Q9HAF5 Hs.662150 FLJ11722|HsT18971|MGC168461 miscrna 1314664 C15orf29 chromosome 15 open reading frame 29 737633 16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863,16169070,16341674 737633 79768 NM_024713,AC079203,CH471125,AK026210,AK293021,AK311338,AL136908,AL833631,BC026234,BC037234,BC047748,BC111000,CR596194,AK293695,AK297904,BM831547,BX389537 NP_078989,EAW92288,EAW92289,EAW92290,BAB15394,BAF85710,CAB66842,AAH26234,AAI11001,Q9H079,CAL38412,BAG57131,BAG60223 Hs.633566 FLJ22557|MGC117356 hypothetical protein LOC79768 protein-coding 1353443 C15orf31 chromosome 15 open reading frame 31 8228263 L17330 1606452 C15orf32 chromosome 15 open reading frame 32 17903307,15489334,14702039,12477932,20386566 145858 NM_153040,AC090985,CH471101,AK057393,BC109252,BC109253,HC044857,FJ515837 NP_694585,EAX02151,BAB71467,AAI09253,AAI09254,Q32M92,CBH30758,ACS13729 Hs.367879 FLJ32831|MGC129836|MGC129837 hypothetical protein LOC145858|uncharacterized protein C15orf32 protein-coding 1605268 C15orf33 chromosome 15 open reading frame 33 15489334,14702039,12477932,11329013,20379614 196951 NM_152647,AC018927,AC022306,AC025919,CH471082,AK023699,AK057362,BC048125,BC048139,BG182490,BI463646 NP_689860,EAW77369,EAW77370,EAW77371,EAW77372,EAW77373,EAW77374,BAB71451,AAH48125,Q96M60 Hs.712959 FLJ32800|MGC57432 hypothetical protein LOC196951 protein-coding 2305638 C15orf34 chromosome 15 open reading frame 34 15489334,14702039,12477932 80072 NR_027262,AC009690,CH471082,AK023377,BC068211 EAW77903,BAB14550,Q9H8Q6 Hs.591113 FLJ13315 miscrna 1603158 C15orf37 chromosome 15 open reading frame 37 14702039,12477932 283687 NR_028330,AC015871,AK091107,AK092679,BC016975,BC101201,BC101202,BC101203,BG677098,CR600752,CR616297 BAC03584,AAH16975,AAI01202,AAI01203,AAI01204,Q8NBB2,Q96AL6 Hs.722219,Hs.727267 FLJ33788 miscrna 1604167 C15orf38 chromosome 15 open reading frame 38 17207965,16344560,15489334,14702039,12477932,20585627 348110 NM_182616,AC027176,CH471101,AK093274,BC053602,CR618861,DB285255 ADQ32596,NP_872422,EAX02077,EAX02078,AAH53602,Q7Z6K5 Hs.6734 MGC61550 hypothetical protein LOC348110 protein-coding 1604333 C15orf39 chromosome 15 open reading frame 39 16344560,15498874,15489334,14702039,12477932,11230166,8889548,16169070 56905 AC113208,CH471136,AF063593,AF143881,AF495726,AK056589,AK057025,AK123746,AK125111,AK125604,AK128205,AL109730,AL117540,AL360143,AL834382,BC000540,BC001762,BC006207,BC011379,BC011905,BC051235,BC109195,BC110367,BM684714,CR533482,DA720113,NM_015492 Q9NPN3,NP_056307,EAW99272,EAW99273,AAG43152,AAQ06680,BAG54145,BAC86215,BAC87324,CAB55985,CAB96089,CAD39045,AAH01762,AAH11379,AAH11905,AAH51235,AAI09196,AAI10368,CAG38513,Q2VPA3,Q6ZRI6,Q9H3J1 Hs.17936 DKFZp434H132|FLJ46337|MGC117209 hypothetical protein LOC56905 protein-coding 1604247 C15orf40 chromosome 15 open reading frame 40 16368877,15489334,15146197,14702039,12477932,8889548 123207 NM_144597,NM_001160113,NM_001160114,NM_001160115,NM_001160116,NR_027649,NR_027650,AC022558,CH471188,AA905778,AI239480,AJ705316,AK125586,AK311484,AK312160,AL602775,AW105048,BC019820,BE906569,BQ013375,BQ185982,BY800475,CN347153,CR614786,DC428269,DW416709 NP_653198,NP_001153585,NP_001153586,NP_001153587,NP_001153588,EAW62431,EAW62432,BAG35094,AAH19820,Q8WUR7 Hs.352541 FLJ33606|MGC29937 OTTHUMP00000218276|hypothetical protein LOC123207 protein-coding 1607000 C15orf41 chromosome 15 open reading frame 41 17353931,16344560,15489334,12477932,17207965,19913121,20628086 84529 NM_032499,NM_001130010,AC007429,AC013640,AC019016,CH471125,AF114263,AK026504,AK315446,BC006254,BC042750,BX647650,CR612493,DA467314,DA534917,AC103988 NP_115888,NP_001123482,EAW92336,EAW92337,EAW92338,AAD29606,BAG37834,AAH06254,Q9Y2V0,ADQ32816 Hs.48348 FLJ22851|HH114|MGC11326 hypothetical protein LOC84529 protein-coding 1602448 C15orf42 chromosome 15 open reading frame 42 15146197,12477932,20080954,20116089,20379614 90381 NM_152259,AC013391,AC013787,CH471101,CQ783631,AK074727,AK123612,AK315750,AW627706,BC002881,BC033209,BX538335,CN285632,DR731357,DR731358,GQ227787 NP_689472,EAX02056,CAF86784,BAC11165,BAG53921,BAG38104,AAH02881,AAH33209,CAD98102,Q7Z2Z1,ADC30133 Hs.441708 FLJ41618|MGC45866|TICRR|Treslin topBP1-interacting checkpoint and replication regulator|topBP1-interacting replication-stimulating protein|topBP1-interacting, replication-stimulating protein|treslin protein-coding 1606959 C15orf43 chromosome 15 open reading frame 43 15489334,12477932 145645 NM_152448,AC090888,CH471082,BC029537,HC007150 EAW77283,NP_689661,AAH29537,Q8NHR7,ABM81909,ABM85084,CBH19380 Hs.567701 MGC33951 hypothetical protein LOC145645 protein-coding 1604589 C15orf44 chromosome 15 open reading frame 44 11256614,16381901,15489336,12477932,11230166,11076863,20139978 81556 NM_030800,NM_001136043,AC027220,CH471082,AK027475,AK293207,AK296134,AK301033,AK301222,AK301742,AK310857,AL136662,BC007991,BC037823,CR595058,CR615440,CR616470 NP_110427,NP_001129515,EAW77737,EAW77738,BAB55140,BAG56747,BAG58878,BAG62647,BAG62795,BAG63205,CAB66597,AAH07991,AAH37823,Q96SY0,CAL37792 Hs.6686 DKFZp564O1664 hypothetical protein LOC81556 protein-coding 1602786 C15orf45 chromosome 15 open reading frame 45 14702039 641318 Q96MF0 NM_001035530,AK057017 NP_001030607,BAB71345,Q96MF0 Hs.671908 FLJ32455 protein-coding 1601736 C15orf48 chromosome 15 open reading frame 48 This gene was identified by its low or completely missing expression in esophageal squamous cell carcinomas. Normal expression of the gene occurs in the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq] 12209954,18636205,16434596,15489334,12477932,20877624 84419 NM_032413,NM_197955,AC025580,CH471082,CS300715,AB026707,AF228422,AK026298,BC021173,CA865860 NP_115789,NP_922946,EAW77312,EAW77313,CAK32379,BAB61021,AAK00708,AAH21173,Q9C002,ABM82120,ABM85294 Hs.112242 FLJ22645|FOAP-11|MGC32925|NMES1 normal mucosa of esophagus specific 1|normal mucosa of esophagus-specific gene 1 protein protein-coding 1348126 C15orf5 chromosome 15 open reading frame 5 15489334,12477932,11697146 81698 NR_026813,AC087465,CH471136,AF216224,AL109679,BC069765,BC103988,BC103989,BC103990,BC103991 EAW99205,AAG44088,CAB52019,Q9H2U6 Hs.656938 MGC120146|MGC120147|MGC120148|MGC120149 miscrna 1603141 C15orf50 chromosome 15 open reading frame 50 12477932 414926 NR_026764,AC021818,BC031958 Hs.569502 MGC42951 miscrna 1605267 C15orf51 chromosome 15 open reading frame 51 15008788,12477932 196968 NR_003260,AC090825,AK127834,AK302717,AL833912,BC101078,BC101080,BC101081 BAC87154,BAG63937,CAD38768,Q6ZS02,Q8NDG8 Hs.567763,Hs.585319 DKFZp434I1020|FLJ45937|FLJ54911|MGC119618 pseudo 1602266 C15orf52 chromosome 15 open reading frame 52 16344560,12477932,8889548 388115 AC013356,CH471125,AK124643,AK125329,AK126035,AK126485,BC015670,BC140897,BC140902,BM716672,BQ690903,BU618720,CR749408,DA106198,DA892533,NM_207380 NP_997263,EAW92404,EAW92405,BAC86132,BAC86405,AAI40898,AAI40903,CAH18251,Q6ZUT6 Hs.32433 DKFZp686N1468|FLJ43339 flj43339 protein|hypothetical protein LOC388115 protein-coding 1601684 C15orf53 chromosome 15 open reading frame 53 19488044,18711365,14702039,12477932,20351715 400359 NM_207444,AC104261,CH471125,AK093014,BC119016,BC119810 NP_997327,EAW92373,BAC04019,AAI19017,AAI19811,Q8NAA6 Hs.448785 FLJ35695|MGC148119 hypothetical protein LOC400359 protein-coding 1601683 C15orf54 chromosome 15 open reading frame 54 14702039,12477932 400360 BC137301,BC171789,BX647708,NM_207445,AC013652,CH471125,AK096850,BC137300 AAI37302,AAI71789,Q8N8G6,NP_997328,EAW92378,BAC04876,AAI37301 Hs.376109 FLJ39531 putative uncharacterized protein C15orf54 protein-coding 1605553 C15orf55 chromosome 15 open reading frame 55 19550370,18391746,17934517,15994877,12543779,12477932,20676058 256646 HC007186,HC044713,AF482429,AK098568,AK302656,AK302680,AL137416,BC033392,BC114518,BC114567,NM_175741,AC021822,AC025678,CH471125 CBH19398,CBH30686,EAW92304,EAW92305,AAO39268,BAC05337,BAH13770,BAG63912,CAB70729,AAI14519,AAI14568,Q86Y26,NP_786883 Hs.525769 DKFZp434O192|MGC138683|MGC138684|NUT nuclear protein in testis|protein NUT protein-coding 2289749 C15orf56 chromosome 15 open reading frame 56 14702039 644809 NM_001039905,AC020658,AK095915 NP_001034994,BAC04647,Q8N910 Hs.631718 FLJ38596 putative uncharacterized protein C15orf56 protein-coding 1605016 C15orf57 chromosome 15 open reading frame 57 17207965,15342556,14702039,12477932 90416 NM_001080791,NM_052849,NM_001080792,AC091045,CH471125,AK092214,AK293079,AK312842,AL832032,BC001673,BG709516,BP202606,BQ878848,CD686743,CR594644,CR613762,CR617997,CR621892 ADQ32092,NP_001074261,NP_001074260,NP_443081,EAW92420,EAW92421,EAW92422,EAW92423,EAW92424,EAW92425,EAW92426,EAW92427,BAC03831,BAF85768,CAD89911,AAH01673,Q9BV29 Hs.654661 CCDC32|FLJ25915|MGC20481 coiled-coil domain containing 32 protein-coding 1605191 C15orf58 chromosome 15 open reading frame 58 12477932 390637 NM_001013657,AC091167,CH471101,AK130527,BC127821,BX440248 NP_001013679,EAX02091,EAX02092,BAC85370,AAI27822,Q6ZNW5,AAI48395,AAI53018 Hs.304673 hypothetical protein LOC390637 protein-coding 2298735 C15orf59 chromosome 15 open reading frame 59 12477932 388135 NM_001039614,AC022188,BC111368 NP_001034703,AAI11369,Q2T9L4 Hs.40794 MGC131524 hypothetical protein LOC388135 protein-coding 2307386 C15orf60 chromosome 15 open reading frame 60 14702039,12477932 283677 NM_001042367,AC009660,AC022735,CH471082,AK131030,BC055412,BX113903,DB465854 NP_001035826,EAW77929,AAH55412,Q7Z4M0 Hs.187866 FLJ27520|FLJ36860|FLJ44083 hypothetical protein LOC283677 protein-coding 2302457 C15orf61 chromosome 15 open reading frame 61 16572171,14702039,8889548 145853 NM_001143936,AC016355,CH471082,AK294012,AY726587,BM664696,CK903599 NP_001137408,EAW77798,BAG57373,A6NNL5 Hs.438385 FLJ59587 hypothetical protein LOC145853 protein-coding 2299194 C15orf62 chromosome 15 open reading frame 62 16572171,16344560,14702039,12477932,8889548,19913121,20628086 643338 NM_001130448,AC012476,AK291344,BC027487,BM706032,CN478592,DA761028 NP_001123920,BAF84033,A8K5M9 Hs.631715 hypothetical protein LOC643338|uncharacterized protein FLJ75552, mitochondrial protein-coding 1604376 C15orf63 chromosome 15 open reading frame 63 9700202,17947297,16950395,14702039,12477932,11042152 25764 AC018512,CH471082,BQ478474,BQ772100,NM_001199885,NM_016400,AF049613,AF161485,AK022435,BC019262 NP_057484,NP_001186814,EAW77241,EAW77242,AAC26849,AAF29100,AAH19262,Q9NX55 Hs.631692 HSPC136|HYPK Huntingtin interacting protein K|OTTHUMP00000196872|huntingtin yeast partner K|huntingtin-interacting protein K protein-coding 1345370 C16orf10 chromosome 16 open reading frame 10 64493 AW298011 protein-coding 1602296 C16orf11 chromosome 16 open reading frame 11 12477932 146325 NM_145270,AE006464,CH471112,BC016613,Z97986 NP_660313,AAK61234,EAW85802,AAH16613,ADR82814,P0CG20,CAX15189 Hs.632220 LA16c-366D1.2 hypothetical protein LOC146325 protein-coding 1351577 C16orf12 chromosome 16 open reading frame 12 64491 1603944 C16orf13 chromosome 16 open reading frame 13 16341674,15342556,14702039,12477932,11157797 84326 NM_001040162,NM_001040165,NM_001040160,NM_032366,AE006464,CH471112,AI146806,AK057077,NM_001040161,AK294482,AK295628,AW027232,BC007207,BC047118,BG612714,BM827705,BP276058,BQ921757,BX104467,CK904040,DB499720 NP_001035251,NP_001035252,NP_001035255,NP_001035250,NP_115742,AAK61238,EAW85784,EAW85785,EAW85786,EAW85787,EAW85788,EAW85789,BAB71362,BAG57706,BAG58505,AAH07207,AAH47118,Q96S19 Hs.239500 JFP2|MGC13114 hypothetical protein LOC84326 protein-coding 1346193 C16orf14 chromosome 16 open reading frame 14 15616553,15489334,14702039,12477932,16169070 84331 NM_138418,AL022341,CH471112,AF386504,AK054811,BC001912,BC007346,BC010562,BC111391,CR602674,CR602676,CR608790,CR619805 NP_612427,CAC79467,EAW85779,EAW85780,EAW85781,EAW85782,AAK67346,AAH01912,AAI11392,Q96J99,Q9BUT9 Hs.417710 C16orf14|MGC104301|MGC15416|c349E10.1 hypothetical protein LOC84331 protein-coding 1344697 C16orf15 chromosome 16 open reading frame 15 64488 1353125 C16orf16 chromosome 16 open reading frame 16 64487 1351241 C16orf17 chromosome 16 open reading frame 17 64486 1347842 C16orf18 chromosome 16 open reading frame 18 64485 1353490 C16orf19 chromosome 16 open reading frame 19 64484 1353722 C16orf2 chromosome 16 open reading frame 2 749 1345079 C16orf20 chromosome 16 open reading frame 20 64483 1347623 C16orf21 chromosome 16 open reading frame 21 64482 1344022 C16orf27 chromosome 16 open reading frame 27 64740 1348125 C16orf28 chromosome 16 open reading frame 28 16344560,15761153,15616553,15489334,14702039,12477932,11157797,8889548 65259 AE006467,AL031709,AL031721,CH471112,AK022685,AK027013,NM_023076,BC000150,BQ776895,CF136587,DA558634,DA739764 AAK61278,EAW85662,EAW85663,EAW85664,BAB14178,NP_075564,AAH00150,Q9H9P5,BAB15626 Hs.598368,Hs.643536 FLJ23360 protein-coding 1349511 C16orf29 chromosome 16 open reading frame 29 64738 1352089 C16orf3 chromosome 16 open reading frame 3 15489334,12477932,9790751 750 AF050081,BC093751,BC104849,NM_001214,AC133919,CH471184,AF050080 AAC69521,AAH93751,AAI04850,O95177,NP_001205,EAW66662,AAC69520 Hs.633032 MGC132509 hypothetical protein LOC750 protein-coding 1353054 C16orf31 chromosome 16 open reading frame 31 64736 1344699 C16orf32 chromosome 16 open reading frame 32 64735 AI209093,AL499628,AW592188,BE041842,NR_033914 Hs.662737 C16orf32|FLJ60954 non-protein coding RNA 254 miscrna 1322103 C16orf33 chromosome 16 open reading frame 33 18559850,15146077,16728641,15616553,15489334,14702039,12477932 79622 AI820975,NG_017004,BC001381,AE006462,CH471112,DQ431198,Z69719,AK026593,BC009179,BK005201,CR590942,NM_024571,CR594984,CR609842,CR613103,CR620069,Z84714 CAX15111,AAH01381,NP_078847,AAK61211,EAW85877,EAW85878,ABD95904,CAI95606,BAB15505,AAH09179,DAA05499,Q4TT61,Q8WYY5,Q8WZ20,Q9BV90,ABM83055,ABM83263,ABM86248 Hs.15277 C16orf33|FLJ22940 OTTHUMP00000067143|OTTHUMP00000197536|U11/U12 small nuclear ribonucleoprotein 25 kDa protein|U11/U12 snRNP 25 kDa protein|U11/U12 snRNP 25K|minus-99 protein protein-coding 1606330 C16orf35 chromosome 16 open reading frame 35 16728641,16344560,15616553,14702039,12477932,8575760,19521502,19666006,17207965,20308539 8131 NM_001077350,NM_001039476,DQ431198,Z69666,Z69720,Z84722,AK026990,AK090717,AK125420,AK294228,AK298795,AK300736,BC004185,BC012825,BC020392,DA658076,X90857,CH471112 NP_001070818,NP_001034565,EAW85865,EAW85867,EAW85868,ABD95907,CAI94885,CAI94886,CAI95611,CAI95612,CAB06556,BAG52219,BAH11706,BAH12872,BAH13336,AAH04185,AAH12825,CAA62368,P78384,Q12980,Q4TT55,Q9BTE2,ADQ32756 Hs.19699 C16orf35|CGTHBA|HS-40|MARE|NPR3|RMD11 -14 gene protein|OTTHUMP00000067190|OTTHUMP00000197538|alpha-globin regulatory element-containing gene protein|conserved gene telomeric to alpha globin cluster|nitrogen permease regulator 3-like protein protein-coding 1605189 C16orf38 chromosome 16 open reading frame 38 20357257,11157797 390667 NM_001013658,AE006467,AL031705,CH471112 NP_001013680,AAK61283,EAW85652,Q96A99,AAI56067,AAI56945 Hs.553770 C16orf38 neuronal pentraxin II-like|neuronal pentraxin-like protein C16orf38|pentraxin-4 protein-coding 1352414 C16orf42 chromosome 16 open reading frame 42 15616553,15489334,12477932,11157797 115939 NM_001001410,AE006467,AL031709,CH471112,BC011785,BC013943,BC016699,BC017325 NP_001001410,AAK61276,CAB56183,EAW85669,AAH13943,AAH16699,AAH17325,Q9UJK0 Hs.134846 MGC24381 hypothetical protein LOC115939 protein-coding 1353914 C16orf43 chromosome 16 open reading frame 43 64720 1345550 C16orf45 chromosome 16 open reading frame 45 15489334,14702039,12477932,10493829,16169070,17207965 89927 NM_033201,NM_001142469,AC026401,AC140504,CH471226,U95740,AI377644,AK057180,AK293431,BC008967,BC023603,CR616063,CR623458 NP_149978,NP_001135941,EAW53916,EAW53917,EAW53918,AAC31663,BAB71376,BAG56936,AAH08967,AAH23603,Q96MC5,ADQ32126 Hs.401798 FLJ32618 hypothetical protein LOC89927 protein-coding 1345260 C16orf46 chromosome 16 open reading frame 46 18951430,16344560,14702039,12477932,20379614 123775 NM_001100873,NM_152337,AC092718,CH471114,AA905107,AK057264,AK295411,BC064143,DA525473 NP_001094343,NP_689550,EAW95548,BAB71401,BAG58362,AAH64143,Q6P387 Hs.658684 FLJ32702 OTTHUMP00000174976|chromosome 16 open reading frame 46 protein-coding 1344443 C16orf47 chromosome 16 open reading frame 47 388289 NM_207385,AK129695 1353138 C16orf48 chromosome 16 open reading frame 48 737633 11256614,16381901,16189514,15489336,15489334,12975309,12477932,11230166,11076863,20936779,19447967 737633 84080 NM_032140,AC010530,CH471092,AL136786,AY358834,BC008284,CR593678,CR594362,CR600584,CR601752,CR614373,CR618514,CR624394 NP_115516,EAW83156,CAB66720,AAQ89193,AAH08284,Q9H0I2,CAL37957 Hs.307084 DAKV6410|DKFZP434A1319|DKFZp434A1319 hypothetical protein LOC84080 protein-coding 1321732 C16orf5 chromosome 16 open reading frame 5 17599062,10570909,16344560,15489334,12477932,11230166,20379614 29965 AC007606,AC023830,CH471112,AF131218,AF195661,AK292036,AK294257,AK302297,AK307067,AK308532,AK311295,AL136698,AL833853,BC002882,BC007604,CR533446,NM_013399,DQ167023,DA055704,NM_001199054,NM_001199055,NM_001199056 NP_037531,EAW85291,EAW85292,EAW85293,EAW85294,EAW85295,EAW85296,EAW85297,EAW85298,AAF26619,AAG35583,BAF84725,BAG57552,BAG63637,CAB66633,CAD38712,AAH02882,AAH07604,CAG38477,AAZ94626,Q9H305,NP_001185983,NP_001185984,NP_001185985 Hs.654653 CDIP|I1 LITAF-like protein|cell death inducing protein|cell death-inducing protein|transmembrane protein I1 protein-coding 2302534 C16orf52 chromosome 16 open reading frame 52 14702039,15616553,15489334,12477932 730094 AF086142,AK095585,AC009019,AC092119,BC027604,BC045557,BC053950,NM_001164579,XR_109267 Q8NHV5,NP_001158051 Hs.498890 MGC26782 hypothetical protein LOC730094 protein-coding 1606780 C16orf53 chromosome 16 open reading frame 53 C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM] 19124460,19039327,17500065,17081983,15489334,15302935,12477932,19596235,17207965 79447 NM_024516,AC009133,AC120114,CH471238,AK026112,AL549915,BC003640,BC150579,CA455544,CR592692,CR609250,CR610997,CR616503,CR619090,CR619145,EF195235 NP_078792,EAW79989,AAH03640,ABM69249,Q9BTK6,ADQ31848 Hs.702841,Hs.726551 FLJ22459|GAS|MGC4606|PA1 PAXIP1-associated protein 1|PTIP-associated 1 protein|PTIP-associated protein 1|glutamate-rich coactivator interacting with SRC1/NCOA1 protein-coding 1605828 C16orf54 chromosome 16 open reading frame 54 16344560,15489334,14702039,12975309,12477932,11181995,10493829 283897 NM_175900,AC002301,AC009133,CH471238,AK093000,AY358833,BC025741,BC104466,BC104467,DA427069 NP_787096,EAW80012,BAC04015,AAQ89192,AAI04467,AAI04468,Q6UWD8 Hs.331095 FLJ35681|MGC129957|MGC129958 transmembrane protein C16orf54 protein-coding 1602656 C16orf55 chromosome 16 open reading frame 55 14702039,12477932 124045 NM_153025,AC010538,CH471184,AK056168,AK125673,AK128803,AK303024,BC045670,BC148299 NP_694570,EAW66713,EAW66714,BAB71109,BAG64150,AAH45670,AAI48300,Q86XC3,Q96N06,AAI60108 Hs.655171 FLJ31606 hypothetical protein LOC124045 protein-coding 1606230 C16orf57 chromosome 16 open reading frame 57 15489334,15231748,14702039,12477932,20004881,20503306,16344560,20734427 79650 BC007774,BC010099,BC021554,BM193105,CR622733,AC010543,AC012182,CH471092,NM_024598,AK023216,AK126223,AK293220,AK298473,AK301494,AK303121,BC004415,BC006291,DB364698,DC363309,NM_001195302,NG_027698 AAH06291,AAH07774,AAH10099,AAH21554,Q9BQ65,NP_078874,EAW82962,EAW82963,EAW82964,BAB14469,BAG56759,BAG60684,BAG63005,BAG64227,AAH04415,NP_001182231 Hs.408702 FLJ13154|HVSL1|PN HVSL motif containing 1|hypothetical protein LOC79650 protein-coding 1601979 C16orf58 chromosome 16 open reading frame 58 19515790,15489334,14702039,12477932,9373149,8125298 64755 CA448699,BC009308,AC026471,CH471192,AK000679,AK023930,AK092580,AK222913,AK296166,AK296491,AK304608,AL834462,BC000822,NM_022744,CR593188 NP_073581,EAW52119,EAW52120,EAW52121,EAW52122,BAB14730,BAC03918,BAD96633,BAG58904,BAG59128,BAG65393,AAH00822,AAH09308,Q96GQ5 Hs.9003 FLJ13868 hypothetical protein LOC64755 protein-coding 1604787 C16orf59 chromosome 16 open reading frame 59 12477932,14702039,16484223 80178 NM_025108,AC106820,CH471112,AK023971,AK093788,AK128408,AK301929,AL559561,BC008882,BC018719,CR457319,CR599650,CR601597,CR606973,CR607565,CR608926,CR609393,CR612076,CR624428,CR624818,CR625521 NP_079384,EAW85505,EAW85506,EAW85507,EAW85508,EAW85509,BAB14745,BAG63349,AAH08882,AAH18719,CAG33600,Q7L2K0,ACE87026 Hs.534491 FLJ13909 hypothetical protein LOC80178 protein-coding 1353331 C16orf6 chromosome 16 open reading frame 6 26588 1601986 C16orf61 chromosome 16 open reading frame 61 15489334,12477932,19844255,20379614 56942 NM_020188,AC009079,AC092718,CH471114,AF201935,AK123193,BC032631,CR594333 NP_064573,EAW95557,EAW95558,EAW95559,EAW95560,EAW95561,AAF86871,AAH32631,Q9NRP2,ABM81706,ABM84865 Hs.55028 2310061C15Rik|DC13 hypothetical protein LOC56942 protein-coding 1603979 C16orf62 chromosome 16 open reading frame 62 19913121,20532202,20628086,20379614,14702039,12477932,11230166,10493829,15342556,16344560 57020 NM_020314,AC002550,AC012621,CH471186,AF461052,AK024693,AK095078,AK290286,AK294885,AL136744,AL832159,AL833428,BC014900,BC050464,BC058845,BX537867,CR590873,CR620808,BP219237,DA452318,DC322427 AAH14900,AAC05806,EAW50289,EAW50290,EAW50291,AAL67806,BAB14965,BAG52981,BAF82975,BAG57979,CAB66678,CAH10399,NP_064710,AAH50464,AAH58845,CAD97869,Q7Z3J2,ACE87367,ACE86683 Hs.654964 DKFZp313M0539|DKFZp434B0212|FLJ21040|MGC16824 esophageal cancer associated protein|hypothetical protein LOC57020 protein-coding 1606173 C16orf63 chromosome 16 open reading frame 63 17207965,15489334,14702039,12477932,19843651 123811 NM_144600,AC130651,CH471226,AK055715,AK056798,AL832498,AY507846,BC022321,CR611801,CR626394 ADQ32274,NP_653201,EAW53934,EAW53935,BAB70994,BAG51811,AAR98812,AAH22321,Q96NB1 Hs.514179 DKFZp686N1651|FLJ31153 lisH domain-containing protein C16orf63 protein-coding 1604496 C16orf65 chromosome 16 open reading frame 65 15616553,15489334,12477932 255762 NM_173806,AC092119,CH471249,BC028605,BC039562,BC021724,BX100380,DB450393,NR_033694 NP_776167,EAW50593,AAH21724,AAH28605,AAH39562,Q8IXQ8 Hs.98244 C16orf65|MGC50721 PDZ domain-containing protein 9|PDZ domain-containing protein C16orf65 protein-coding 2298812 C16orf67 chromosome 16 open reading frame 67 15489334,14702039,12477932,11181995 100132341 NR_024034,AC074050,CH471192,AK054698,BC000552,BC021555 EAW52111,EAW52112,EAW52113,EAW52114,EAW52115,BAB70796,Q96NS8 C16orf67|FLJ30136|KIAA0664P3|MGC3020|MGC31812 miscrna 1601964 C16orf68 chromosome 16 open reading frame 68 14702039,12477932 79091 NM_024109,AC007224,AC138420,CH471112,AK022495,AK315383,AY203956,BC001908,BC103725,CR604742,CR612148,CR621296 NP_077014,EAW85210,EAW85211,EAW85212,BAB14058,BAG37776,AAP34479,AAH01908,Q9BUU2 Hs.306380 FLJ12433|MGC2654 LP8272|hypothetical protein LOC79091 protein-coding 1352238 C16orf7 chromosome 16 open reading frame 7 10231027,16368877,12477932 9605 NM_004913,AC010538,CH471184,AB018551,AI458261,BC052626,BM920493,BY795348,CA428853,CR621709 NP_004904,EAW66694,EAW66695,EAW66696,BAA76711,Q9Y2B5,AAI40443,AAI48702 Hs.164410 ATP-BL ATP synthase, subunit b-like|chromosome 16 open reading frame 7 protein-coding 1604592 C16orf70 chromosome 16 open reading frame 70 16713569,15489334,14702039,14529721,12477932,10846156,9822620,19773279,21048031,19913121,20628086 80262 NM_025187,AC074143,CH471092,AF176088,AK022138,BC004556 NP_079463,EAW83072,EAW83073,EAW83074,EAW83075,EAW83076,EAW83077,EAW83078,AAK96888,BAB13968,AAH04556,Q9BSU1 Hs.727571 C16orf6|FLJ12076|LIN10|lin-10 lin-10|lin-10 homolog protein-coding 1604523 C16orf71 chromosome 16 open reading frame 71 12477932 146562 NM_139170,AC020663,CH471112,AF447587,AK125251,BC035024,BI458862,BX648126,AK301794 NP_631909,EAW85267,EAW85268,AAM22870,BAG54174,AAH35024,Q8IYS4,ACE87302,ACE86621,BAG63247 Hs.602738 DKFZp686H2240|FLJ43261 hypothetical protein LOC146562 protein-coding 1606021 C16orf72 chromosome 16 open reading frame 72 14702039,12477932,8889548 29035 NM_014117,AC087190,CH471112,AK123266,BC029878,BC113570,BI831003,BM975140,CB959956,CR602153,CR613493 NP_054836,EAW85189,EAW85191,AAI13571,Q14CZ0,Q9UI82,ADR82920 Hs.221497 FLJ41272|PRO0149 hypothetical protein LOC29035 protein-coding 1604193 C16orf73 chromosome 16 open reading frame 73 12477932,11157797,20379614 254528 NM_152764,NM_001163560,AE006639,AL031722,AL132823,AL499628,CH471112,BC029829,CD300613,DB461414 NP_689977,NP_001157032,AAK61296,CAM26474,CAM28376,EAW85604,EAW85605,EAW85606,EAW85607,AAH29829,Q8N635,ABM82225,ABM85409 Hs.662737 MGC35212|gs129 OTTHUMP00000211672|hypothetical protein LOC254528 protein-coding 1606366 C16orf74 chromosome 16 open reading frame 74 16189514,15489334,12477932,12107413 404550 NM_206967,AC018695,CH471114,CQ800176,AW072412,BC009078,CD674248,CS502806 NP_996850,EAW95441,EAW95442,CAG27584,Q96GX8,CAM83960 Hs.461655 MGC17624 MGC17624 protein protein-coding 1606180 C16orf75 chromosome 16 open reading frame 75 RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM] 20601676,20826342,18978792,18923083,18923082,12477932 116028 NM_152308,AC009121,CH471112,AK123764,BC013040,BC022427,BC031016,BC039361,CR592375,CR593562,CR598957,CR611079,CR620636,CR626010,CR626823 NP_689521,EAW85155,BAG53958,AAH13040,AAH22427,AAH31016,AAH39361,Q96E14 Hs.347524 BLAP18|MGC24665|RMI2 BLM-associated protein of 18 kDa|RecQ-mediated genome instability 2, S. cerevisiae, homolog of|hRMI2|recQ-mediated genome instability protein 2 protein-coding 1605880 C16orf78 chromosome 16 open reading frame 78 12477932,17207965 123970 NM_144602,AC007614,CH471092,BC021181,BC021718,HC006816 NP_653203,EAW82734,AAH21181,AAH21718,Q8WTQ4,CBH19214,ADQ31886 Hs.125875 MGC33367 hypothetical protein LOC123970 protein-coding 1602822 C16orf79 chromosome 16 open reading frame 79 12477932,17207965 283870 NM_182563,AC009065,CH471112,AY597811,BC039154,DN992777 NP_872369,EAW85535,EAW85536,AAT09004,AAH39154,Q6PL45,ADQ31629 Hs.647399 MGC21830 BRICHOS domain-containing protein C16orf79|chromosome 16 open reading frame 79 protein-coding 1605686 C16orf80 chromosome 16 open reading frame 80 8688464,15324660,12477932 29105 AF093680,AK027099,AK297819,AV751497,BC005152,CR595445,CR596631,CR604557,CR612011,CR613931,CR623489,CR626042,NM_013242,AC009107,AC012182,AC026771,CH471092,AF087845 AAD40382,BAG60156,AAH05152,Q9Y6A4,ABZ92321,NP_037374,EAW82967,AAP97158 Hs.532755 EVORF|GTL3|fSAP23 functional spliceosome-associated protein 23|gene trap locus 3|transcription factor IIB protein-coding 1605831 C16orf81 chromosome 16 open reading frame 81 14702039 283860 NR_024347,AC009113,AK094020 BAC04270,Q8N9R0 FLJ36701 miscrna 1602175 C16orf82 chromosome 16 open reading frame 82 15489334,12477932 162083 NM_001145545,AC092725,CH471145,AF536240,AI025812,AW450252,BC031257,BC136370,BC136382,AK311574 NP_001139017,EAW55761,AAP97728,AAH31257,AAI36371,AAI36383,Q7Z2V1 Hs.120831 FLJ18616|TNT OTTHUMP00000220950|protein TNT protein-coding 1606639 C16orf85 chromosome 16 open reading frame 85 400555 NM_001001682,AC116552,AK127438 NP_001001682,BAC86980,Q6ZSH3,AAI48582,AAI53154 Hs.120392 FLJ45530 protein-coding 1604692 C16orf86 chromosome 16 open reading frame 86 12477932 388284 NM_001012984,AC010530,CH471092,AK123796,BC032064,BC041612,BC064498,BC082249,BC132878,BC132880,CA432406 NP_001013002,EAW83162,EAW83163,EAW83164,BAC85694,Q6ZW13 Hs.632208 hypothetical protein LOC388284 protein-coding 1604693 C16orf87 chromosome 16 open reading frame 87 12477932,17207965 388272 NM_001001436,AC007225,CH471092,BC056676,BX647945,CR622077 ADQ32180,NP_001001436,EAW82689,AAH56676,CAH56192,Q6PH81 Hs.406551 MGC62018 hypothetical protein LOC388272 protein-coding 1606640 C16orf88 chromosome 16 open reading frame 88 12477932,10493829 400506 NM_001012991,AC002550,BC047010,BC089430,BC117562,CR594158,CR625565 NP_001013009,AAC05805,AAH89430,AAI17563,Q1ED39 Hs.585209 101F10.1|FAM191A family with sequence similarity 191, member A|protein C16orf88|testis-specific gene 118 protein protein-coding 2303333 C16orf90 chromosome 16 open reading frame 90 646174 NM_001080524,AC004224 NP_001073993,A8MZG2 Hs.632224 OTTHUMP00000210841|hypothetical protein LOC646174 protein-coding 1605551 C16orf91 chromosome 16 open reading frame 91 12477932,11157797 283951 NM_001010878,AE006467,AL032819,CH471112,BC092497,BC023590 NP_001010878,AAK61280,EAW85657,EAW85658,AAH92497,Q4G0I0,AAI40335,AAI46484 Hs.58373 CCSMST1|MGC104723|gs103 protein CCSMST1 protein-coding 2306470 C16orf92 chromosome 16 open reading frame 92 12477932 146378 NM_001109660,NM_001109659,AC093512,CH471238,AK058133,BC101433,BC101434,BC101435,BC101436,BC127955 NP_001103130,NP_001103129,EAW79941,BAB71678,AAI01434,AAI01435,AAI01436,AAI01437,AAI27956,Q96LL3 Hs.651588 FLJ25404|MGC125422 hypothetical protein LOC146378 protein-coding 1603940 C16orf93 chromosome 16 open reading frame 93 12477932 90835 BI829598,NM_001195620,AC106886,CH471192,AK307279,AL122109,BC042548,BC063391,BC073881,BC092491,BC128129,CR598994,NM_001014979,BC128128 NP_001182549,NP_001014979,EAW52201,EAW52202,EAW52203,EAW52204,EAW52205,EAW52206,AAH92491,AAI28129,AAI28130,A1A4V9 Hs.724010 MGC104706 hypothetical protein LOC90835 protein-coding 1353497 C17orf10 chromosome 17 open reading frame 10 53396 2299982 C17orf100 chromosome 17 open reading frame 100 12477932,11181995 388327 NM_001105520,AC004706,CH471108,BC028174,BC038956,BC052606,BC067087,BC082254,BX488537,CR621216 NP_001098990,EAW90297,EAW90298,A8MU93 Hs.262480 OTTHUMP00000163267|hCG1985469|hypothetical protein LOC388327 protein-coding 1602867 C17orf101 chromosome 17 open reading frame 101 12477932 79701 NR_033265,NM_024648,NM_175902,AC132938,CH471099,AK025875,AK311057,BC008897,BC009297,BC023602 NP_078924,NP_787098,EAW89769,EAW89770,BAB15267,AAH08897,AAH23602,Q6PK18 Hs.187505 FLJ22222 PKHD domain-containing transmembrane protein C17orf101 protein-coding 1606635 C17orf102 chromosome 17 open reading frame 102 15489334,14702039,12477932 400591 NM_207454,AC005691,AK126768,BC133004,BC136710,BC142651 NP_997337,BAC86680,AAI33005,AAI36711,AAI42652,A2RUQ5 Hs.514090 FLJ44815 hypothetical protein LOC400591 protein-coding 1606417 C17orf103 chromosome 17 open reading frame 103 12477932 256302 NM_152914,AC087294,AL359586,CH471210,FJ695210,AK126856,BC029527,BC044645,CR749731 EAX02600,BAG54382,AAH29527,Q8N6N6,NP_690878 Hs.654713 DKFZp761I1115|DKFZp762H185|Gtlf3b|MGC33894 gene trap locus F3b|protein GTLF3B|transcript expressed during hematopoiesis 2 protein-coding 3458383 C17orf105 chromosome 17 open reading frame 105 12477932 284067 AC003098,AK125817,BC054872,BC070324,BC146971,NM_001136483,HC007090,HC044751 AAI46972,B2RV13,NP_001129955,CBH19350,CBH30705 Hs.252707 FLJ43829 hypothetical protein LOC284067 protein-coding 2801979 C17orf106 chromosome 17 open reading frame 106 C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM] 16344560,12477932,14702039,19854130,8125298 100134934 DB216497,AC040980,BC047782,BX648576,CR604264,FJ790671,NM_001113324 AAH47782,ACY71128,NP_001106795,Q86WV5 Hs.593566 DKFZp686C0493|DKFZp686G1463|FLJ39785|MGC54300|TEN1 CST complex subunit TEN1|OTTHUMP00000163541|protein telomeric pathways with STN1 homolog|telomere length regulation protein TEN1 homolog|telomeric pathways in association with Stn1 number 1|telomeric pathways in association with Stn1, number 1 protein-coding 3051040 C17orf107 chromosome 17 open reading frame 107 100130311 AC109333,AC233723,AK128415,AK308530,AK309386,AW014012,NM_001145536 BAC87429,NP_001139008,Q6ZR85 Hs.579243 FLJ99427 hypothetical protein LOC100130311 protein-coding 3210028 C17orf108 chromosome 17 open reading frame 108 12477932,14702039 201229 AC005697,AI804732,AK055808,AY251535,BC018092,CH471159,CR601114,CR610240,DB474433,DR155808,NM_001076680 A8MSI8,AAP20058,EAW51051,NP_001070148 Hs.434386 HSD24 hypothetical protein LOC201229 protein-coding 1344830 C17orf11 chromosome 17 open reading frame 11 53395 AJ276251 protein-coding 1348105 C17orf12 chromosome 17 open reading frame 12 53394 AJ276252 Hs.684572 protein-coding 1347951 C17orf13 chromosome 17 open reading frame 13 53393 AJ276253,BX119309,BX502008 Hs.659206 protein-coding 1351090 C17orf14 chromosome 17 open reading frame 14 53392 AJ276255 protein-coding 1348490 C17orf15 chromosome 17 open reading frame 15 53391 1351954 C17orf16 chromosome 17 open reading frame 16 53390 1346325 C17orf17 chromosome 17 open reading frame 17 53389 1349410 C17orf18 chromosome 17 open reading frame 18 53388 1354402 C17orf19 chromosome 17 open reading frame 19 53387 1602729 C17orf2 chromosome 17 open reading frame 2 10673334 8316 U53930 protein-coding 1350625 C17orf20 chromosome 17 open reading frame 20 53386 1343641 C17orf21 chromosome 17 open reading frame 21 53385 1346844 C17orf22 chromosome 17 open reading frame 22 53384 1346283 C17orf23 chromosome 17 open reading frame 23 53383,53383 AC090617,NG_026139 C17orf23 hypothetical protein LOC53383 pseudo 1322878 C17orf28 chromosome 17 open reading frame 28 18029348,16344560,16189514,15489334,14702039,12477932,11281419,10562567 283987 NM_030630,AC087651,CH471099,AK074401,AK075111,AK095565,AK125514,AK304081,AL137556,BC032219,BC035372,BX496609,DA336027 NP_085133,EAW89217,EAW89218,EAW89219,EAW89220,EAW89221,BAB85070,BAC11407,BAG64988,CAB70810,AAH32219,AAH35372,Q8IV36,Q8NC03 Hs.11067 DMC1|FLJ43526 downregulated in multiple cancer 1|hypothetical protein LOC283987 protein-coding 1347909 C17orf33 chromosome 17 open reading frame 33 170794 1315438 C17orf37 chromosome 17 open reading frame 37 737633 17207965,19124506,17503775,17121940,17117180,15489334,15010812,12739007,12477932,19503095 737633 84299 CS566126,NM_032339,AC079199,CH471152,AA010615,AF490253,AJ308025,AJ308026,AL554581,AY508814,BC006006,BX646129,CR613484,BC106016 ADQ33214,CAN37613,NP_115715,EAW60598,EAW60599,AAO85461,AAR92035,AAH06006,Q9BRT3 Hs.333526 C35|MGC14832|ORB3|RDX12|XTP4 HBV X-transactivated gene 4 protein|HBV XAg-transactivated protein 4|hypothetical protein LOC84299|protein C17orf37 protein-coding 1322085 C17orf39 chromosome 17 open reading frame 39 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 737633 15489334,14702039,12477932,11997338,11840190 737633 79018 AC087163,AC087164,CH471196,AK074284,AK127580,AK315083,BC000636,NM_024052,BC041829,CR605709 EAW55673,EAW55674,BAB85036,BAG54528,AAH00636,NP_076957,AAH41829,Q8IVV7 Hs.187422 MGC3048 hypothetical protein LOC79018 protein-coding 1352014 C17orf4 chromosome 17 open reading frame 4 53402 1605945 C17orf42 chromosome 17 open reading frame 42 16169070,19291764,17632510,16344560,12477932,11468690,10843809,9373149,8125298,20562859 79736 NM_024683,AC091177,AC130324,CH471147,AF086465,AJ314645,AK026382,AK225474,BC009025,BC024328,BC064631,BC073169,BQ003763,CR457360,CR590477,CR602324,CR619488,DA647699 NP_078959,EAW80290,EAW80291,EAW80292,CAC44534,BAB15468,AAH09025,AAH73169,CAG33641,Q96QE5 Hs.317340 FLJ22729|MGC24674 hypothetical protein LOC79736 protein-coding 2303883 C17orf44 chromosome 17 open reading frame 44 15489334,14702039,12477932 284029 NR_026951,AC135178,AK092109,BC063002,BC089396,BC113564 BAC03808,Q8NAT9 Hs.121692 FLJ34790|MGC104931 miscrna 1603588 C17orf46 chromosome 17 open reading frame 46 21048031,15489334,15342556,14702039,12477932 124783 NM_152343,AC008105,CH471178,AF433663,AK058143,AK302184,BC028124,BP369808,BP370574 NP_689556,EAW51532,AAP97314,BAB71683,BAH13643,AAH28124,Q96LK8 Hs.412719 FLJ25414 hypothetical protein LOC124783 protein-coding 1605244 C17orf47 chromosome 17 open reading frame 47 14702039,12477932 284083 NM_001038704,AC005666,AK097440,BC022189,HC006818 NP_001033793,BAC05054,AAH22189,Q8NEP4,CBH19215 Hs.646574 FLJ40121 hypothetical protein LOC284083 protein-coding 1604325 C17orf48 chromosome 17 open reading frame 48 16344560,12477932 56985 NM_020233,AC002347,CH471108,AB073393,AF168715,AK292629,BC001294,BC070155,CR605738,CR612920,DA280275,DA305828 NP_064618,EAW89995,EAW89996,BAE45723,AAF87317,BAF85318,AAH01294,AAH70155,Q3LIE5 Hs.708369,Hs.47668 MDS006|NBLA03831 ADP-ribose/CDP-alcohol pyrophosphatase|ADPRibase-Mn|CDP-choline phosphohydrolase|manganese-dependent ADP-ribose/CDP-alcohol diphosphatase protein-coding 1606738 C17orf49 chromosome 17 open reading frame 49 17207965,16964243,15489334,15146197,14702039,12477932,11181995,8889548,16712791,15960975 124944 NM_174893,NM_001142798,NM_001142799,AC040977,CH471108,AK055800,AK295795,BC040036,BM011108,BU730728,CB119197,CN280697,CR618891,AI183273,BU596784,CA449884 ADQ33067,NP_777553,NP_001136270,NP_001136271,EAW90278,EAW90279,BAG58615,AAH40036,Q8IXM2 Hs.511801 BAP18|MGC49942 BPTF-associated protein of 18 kDa|MLL1/MLL complex subunit C17orf49|chromatin complexes subunit BAP18 protein-coding 1348577 C17orf5 chromosome 17 open reading frame 5 53401 1603574 C17orf50 chromosome 17 open reading frame 50 15489334,12477932,19913121,20628086 146853 NM_145272,AC006237,CH471147,AI004987,AY557347,BC021727,DB452451 NP_660315,EAW80130,AAS67921,Q8WW18,AAI56775 Hs.127194 hypothetical protein LOC146853 protein-coding 1601699 C17orf51 chromosome 17 open reading frame 51 16625196,15489334,14702039,12477932 339263 NM_001113434,AC138710,AK023039,AK056436,AK090937,AK123143,BC010612,BC019938,BC040371,BC052777,BC053952,BC132738,BC136630,BX640850,AC233702,AK096256 NP_001106905,BAG51708,AAI32739,AAI36631,A8MQB3 Hs.514016 FLJ12977|FLJ31874|FLJ33618|FLJ38937|FLJ41148 OTTHUMP00000163730|hypothetical protein LOC339263|uncharacterized protein C17orf51 protein-coding 1602634 C17orf52 chromosome 17 open reading frame 52 12477932 283994 BC038218 Hs.645372 protein-coding 1602101 C17orf53 chromosome 17 open reading frame 53 19079262,14702039,12477932 78995 NM_024032,AC004596,CH471178,AK021656,AK291924,AL834295,BC000121,BI829278,DC350778,NM_001171251 NP_076937,EAW51629,EAW51630,EAW51631,EAW51632,BAB13867,BAF84613,CAD38968,AAH00121,Q8N3J3,ACE87557,ACE86869,NP_001164722 Hs.437059 FLJ11594|MGC3130 hypothetical protein LOC78995 protein-coding 1605548 C17orf54 chromosome 17 open reading frame 54 15489334,14702039,12477932 283982 NR_027146,AC125421,CH471099,AK097638,BC101213,BC101214,BC101215 EAW89134,EAW89135,BAC05128,AAI01214,AAI01216,Q8N7U9 Hs.464079 FLJ40319|MGC120127 miscrna 1602280 C17orf55 chromosome 17 open reading frame 55 14702039,12477932 284185 NM_178519,AC027601,CH471099,AK096740,BC108932,BC108933 NP_848614,EAW89645,EAW89646,BAC04855,AAI08933,AAI08934,Q8N8I6 Hs.631762 FLJ39421|MGC120553|MGC120556 hypothetical protein LOC284185 protein-coding 1601823 C17orf56 chromosome 17 open reading frame 56 14702039,12477932,9710619,16344560 146705 NM_144679,AC027601,CH471099,AK056090,AK127221,AK128728,BC037231,BC042155,BC064483,CR594729,DB122720 NP_653280,EAW89634,EAW89635,EAW89636,EAW89637,EAW89638,BAB71091,BAC86888,BAC87593,AAH64483,Q96N21 Hs.631761 DKFZp451M1616|FLJ31528 hypothetical protein LOC146705 protein-coding 1606737 C17orf57 chromosome 17 open reading frame 57 15489334,12477932,14702039 124989 NM_152347,AC040934,AC068234,AK097661,BC036407,BC037876,BC044604,BX537519,BX471329,CH471231,NM_001195192 NP_689560,BAC05135,AAH36407,AAH37876,CAD97771,Q7Z3R0,Q8IY85,Q8N7U2,ACE87809,EAW57671,EAW57672,NP_001182121,ACT64490 Hs.463303 FLJ36110|FLJ40342|FLJ58126 EF-hand domain-containing protein C17orf57 protein-coding 1605250 C17orf58 chromosome 17 open reading frame 58 15489334,12477932 284018 NM_181656,NM_181655,AC134407,AK026583,BC021702,BC036760,BC105124,BC112073,BX364842,CR592488,CR594326 NP_858042,NP_858041,AAH36760,AAI05125,AAI12074,Q2M2W7 Hs.90790 MGC138278 hypothetical protein LOC284018 protein-coding 1603302 C17orf59 chromosome 17 open reading frame 59 16344560,12477932,9373149 54785 NM_017622,AC129492,CH471108,AI174760,AK000021,AK222506,BC009261,BC018880,BC070272,CA423621,DA199264,DR006664 NP_060092,EAW90080,BAA90889,BAD96226,AAH09261,AAH18880,AAH70272,Q96GS4,Q9P1D2 Hs.129563 FLJ20014|PRO2472 hypothetical protein LOC54785 protein-coding 1349752 C17orf6 chromosome 17 open reading frame 6 53400 AJ272176,AJ276246 Hs.684568 miscrna 1605249 C17orf60 chromosome 17 open reading frame 60 20526344,12477932 284021 AB542950,AK300768,BC018972,BC053534,BC130406,BC136594,BC144272,BE296352,CD687595,AB542951,CS255953,NM_001085423,AC009994,AC138744,AC234063,HI968228 BAJ08251,CAJ75916,BAG62433,AAH53534,AAI30407,AAI36595,AAI44273,Q7Z6M3,BAJ08252,NP_001078892,CBY88425 Hs.631749 Allergin-1|MCA32|MGC163278 ALLERGIN-1L|ALLERGIN-1S1|probable mast cell antigen 32 homolog protein-coding 1606934 C17orf61 chromosome 17 open reading frame 61 12477932,16169070,16341674,16712791 254863 NM_152766,AC113189,CH471108,BC030270,BM749297,CB140450,EB386328 NP_689979,EAW90201,AAH30270,Q8N2U0 Hs.534591 MGC40107 hypothetical protein LOC254863 protein-coding 1606782 C17orf62 chromosome 17 open reading frame 62 17207965,15146197,18464913,16344560,15489334,14702039,12878157,12477932,9373149,8125298,8889548 79415 BG338078,BG716477,BM147030,BX451530,CN260096,DA008508,DA436899,DA453235,DA663677,DA969007,DB113745,NM_001193653,NM_001193654,NM_001193655,NM_001193657,NR_036514,NR_036516,NR_036517,NR_036518,NR_036519,NM_001033046,NM_001100407,AC132938,CH471099,NM_001100408,AK027743,AK054876,AK056342,AK074950,AK090484,AK092865,AK225389,AU280357,BC003595,AF269290,BC004171,BM801484,CR611733,CR611760,DA342707,DA500882,AK309201,BU734211,DA716299 ADQ32838,NP_001180582,NP_001180583,NP_001180584,NP_001180586,NP_001093878,NP_001028218,NP_001093877,EAW89776,EAW89777,EAW89778,EAW89779,EAW89780,EAW89781,EAW89782,EAW89783,EAW89784,EAW89785,EAW89786,EAW89787,EAW89788,EAW89789,EAW89790,AAG23173,BAB55335,BAB70818,BAB71156,BAC03465,AAH03595,AAH04171,Q8NEZ9,Q8WY47,Q969P4,Q96NR1,Q9BQA9 Hs.163113 FLJ00406|FLJ90469|MGC4368 hypothetical protein LOC79415 protein-coding 1603991 C17orf63 chromosome 17 open reading frame 63 16344560,15489334,14702039,12477932,16712791 55731 NM_018182,AC010761,AC024267,CH471159,AK000147,AK001562,AK025980,AK057665,AK095569,AK299477,BC021228,BX647766,CB156081,DA185693,NM_001077498,DA787679,FJ695200 NP_001070966,NP_060652,EAW51143,EAW51144,EAW51145,BAA90974,BAA91757,BAB15306,BAG51950,BAG53087,BAG61441,AAH21228,Q8WU58,ACE87143,ACE86462 Hs.564533 FLJ10700 hypothetical protein LOC55731 protein-coding 1603589 C17orf64 chromosome 17 open reading frame 64 12477932 124773 NM_181707,AC037475,CH471179,BC036356,BC048806,CD742737,DB448877 NP_859058,EAW51405,AAH36356,AAH48806,Q86WR6 Hs.129312 hypothetical protein LOC124773 protein-coding 1603501 C17orf65 chromosome 17 open reading frame 65 12477932,14702039,15862967,16712791 339201 NM_178542,AC004596,AL833953,CH471178,AK055685,BC009448,BC100964,BC100965,BC100966,BC100967,CB151608 NP_848637,EAW51625,EAW51626,BAG51556,AAH09448,AAI00965,AAI00966,AAI00967,AAI00968,Q495Z4 Hs.656564 DKFZp762C2414|MGC119234 hypothetical protein LOC339201 protein-coding 1604716 C17orf66 chromosome 17 open reading frame 66 14702039,12477932,20237496 256957 NM_152781,AC015849,CH471147,AK057392,AK301774,AK301884,AK301943,BC033734,BC132681,BC144011,BX114438,HC006976,HC044557 NP_689994,EAW80121,EAW80122,EAW80123,BAB71466,BAG63233,BAG63316,BAG63362,AAH33734,AAI32682,A2RTY3,ADR83073,CBH19293,CBH30608 Hs.514820 FLJ32830 hypothetical protein LOC256957 protein-coding 1603500 C17orf67 chromosome 17 open reading frame 67 19266077,12477932 339210 BC093907,CA308560,CR612053,BC093905,NM_001085430,AC106858,CH471109,BC041467 AAH93905,AAH93907,Q0P5P2,NP_001078899,EAW94527 Hs.658949 hypothetical protein LOC339210 protein-coding 1604790 C17orf68 chromosome 17 open reading frame 68 19119139,16344560,14702039,12477932,10737800,9373149,8125298,19854130,19854131 80169 NM_025099,AC135178,CH471108,AK025823,AK091077,AK225375,AK310636,AL831955,BC026057,BC110373,BC111783,BF798182,BU631459,BX406692,DA313518,DB126489,DQ451688,FJ790670 NP_079375,EAW90070,EAW90071,BAB15247,BAG52278,CAD38600,AAH26057,AAI10374,AAI11784,ABE02809,Q2NKJ3,ACY71127 Hs.156055 AAF-132|AAF132|CTC1|FLJ22170|MGC133331 CST complex subunit CTC1|HBV DNAPTP1-transactivated protein B|alpha accessory factor 132|conserved telomere capping protein 1|conserved telomere maintenance component 1|tmp494178 protein-coding 1603265 C17orf69 chromosome 17 open reading frame 69 14702039,12477932,8889548,19915575 147081 NR_026906,NR_026905,AC126544,AC225613,AK057897,AK090656,BC069230,BU684887 BAB71609,Q96LR1 Hs.128813 FLJ25168 miscrna 1346268 C17orf7 chromosome 17 open reading frame 7 53399 1604593 C17orf70 chromosome 17 open reading frame 70 FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM] 17396147,15146197,14702039,12973351,12477932,9373149,8125298,16344560,18285517,20347428,18029348 80233 BC008883,BC143861,CN366430,DQ989324,NM_025161,AC139149,CH471099,AK024644,AK025828,AK054713,AK225370,AL834374,BC001724,BC021968,BC117139,BC117141,AC137896,DA103390,NR_033338 ABK88282,Q0VG06,NP_079437,EAW89655,EAW89656,EAW89657,EAW89658,EAW89659,EAW89660,BAB14944,BAB15251,BAG51415,CAD39037,AAH01724,AAH21968,AAI17140,AAI17142 Hs.723823 FAAP100|FLJ22175|FLJ30151 Fanconi anemia associated protein 100 kDa subunit|Fanconi anemia core complex 100 kDa subunit|Fanconi anemia-associated protein of 100 kDa|Fanconi anemia-associated protein, 100kDa protein-coding 1602698 C17orf71 chromosome 17 open reading frame 71 19417104,14702039,12477932 55181 AF349467,AK001449,AK026858,AL834490,BC020957,BC031604,NM_018149,AC099850,CH471109 AAL83913,BAA91699,BAB15576,CAD39148,AAH20957,AAH31604,Q8ND04,NP_060619,EAW94413,EAW94414,EAW94415 Hs.7296 FLJ10587|SMG8 SMG8 protein|amplified in breast cancer gene 2 protein|protein SMG8|protein smg-8 homolog protein-coding 1603374 C17orf72 chromosome 17 open reading frame 72 14702039,12477932,16344560 92340 NM_001164257,AC005803,CH471109,AK021786,AK294360,AK302960,AK304254,AL161972,BC030709,BC045676,DB037384,DC358808,NM_001191029,NM_001191030,NM_001191031 NP_001157729,EAW94224,BAG51052,BAG57624,BAG64111,BAG65120,P0C7W0,NP_001177958,NP_001177959,NP_001177960 Hs.708161 DKFZp761M2312|FLJ11724 hypothetical protein LOC92340 protein-coding 2302584 C17orf73 chromosome 17 open reading frame 73 12477932,9373149 55018 NR_024626,AC005921,CH471109,AK000670,AK000701,AK222717,AK310037,BC128165,BC128166 EAW94582,BAA91328,BAD96437,Q53H64 Hs.389460 FLJ20694 miscrna 1604207 C17orf74 chromosome 17 open reading frame 74 12477932 201243 NM_175734,AC113189,CH471108,BC031286,BC044816,BC048010,HC007082 NP_783861,EAW90191,EAW90192,EAW90193,Q0P670,CBH19346 Hs.380704 hypothetical protein LOC201243 protein-coding 1602870 C17orf75 chromosome 17 open reading frame 75 18029348,15489334,12477932,9110174,8619474 64149 NM_022344,AC005899,CH471147,AB062437,AF052093,AF305686,BC026017,BC035715,BC047325,BC054035,CD706845,CR599009,CR618435 NP_071739,EAW80238,BAB93500,AAG23214,AAH26017,AAH35715,AAH47325,AAH54035,Q8NI83,Q9HAS0 Hs.655257 NJMU-R1 protein Njmu-R1|spermatogenesis-related protein protein-coding 1604449 C17orf76 chromosome 17 open reading frame 76 14702039,12477932,20379614 388341 DN997688,NM_207387,NM_001113567,AC093484,AC127540,CH471222,AK093015,AL833245,AL833260,BC144381,BF966204,DB460063 Q8NAA5,NP_997270,NP_001107039,EAX04516,EAX04517,BAC04020,AAI44382 Hs.25425 FLJ35696 leucine-rich repeat-containing protein C17orf76 protein-coding 1603896 C17orf77 chromosome 17 open reading frame 77 14702039 146723 NM_152460,AC079325,CH471099,AK056444 NP_689673,EAW89172,Q96MU5,AAI48445,AAI53034 Hs.350775 FLJ31882 OTTHUMP00000070876|hypothetical protein LOC146723 protein-coding 1602416 C17orf78 chromosome 17 open reading frame 78 14702039,12477932,19913121,20628086,17207965 284099 NM_173625,AC068400,CH471199,AK096966,BC034672 NP_775896,EAW57585,EAW57586,BAC04914,AAH34672,Q8N4C9,ADQ31592 Hs.439154 FLJ39647|MGC34759 hypothetical protein LOC284099 protein-coding 1602321 C17orf79 chromosome 17 open reading frame 79 18404153,17632510,12477932,10843809,19615732 55352 AC004253,CH471147,AF407672,AJ272196,AK024772,BC012386,BC035483,NM_018405,BQ671018,DB472863 EAW80260,EAW80261,EAW80262,EAW80263,AAK97661,CAB77267,AAH12386,Q9NQ92,NP_060875 Hs.462729 COPR5|FLJ21119|HSA272196|TTP1 OTTHUMP00000163706|cooperator of PRMT5 protein-coding 1344979 C17orf8 chromosome 17 open reading frame 8 53398 1602883 C17orf80 chromosome 17 open reading frame 80 16381901,15489336,12477932,11230166,11076863,8889548,17213182 55028 NM_017941,NM_001100621,NM_001100622,AC087301,AC097641,CH471099,AK000728,AK027166,AK292838,AK301905,AL136740,AY163812,AY239293,BC005005,BU736238,BU788930,CR612666,DT220543 NP_060411,NP_001094091,NP_001094092,EAW89117,EAW89118,EAW89119,EAW89120,BAA91344,BAB15680,BAF85527,BAH13581,CAB66674,AAO25513,AAP72185,AAH05005,Q9BSJ5,CAL38003 Hs.12929 FLJ20721|HLC-8|MIG3 lung cancer-related protein 8|migration-inducing protein 3 protein-coding 1606812 C17orf81 chromosome 17 open reading frame 81 16713569,16850183,15489334,12477932,11042152,9373149,8889548,8125298,18029348 23587 NM_203414,NM_203413,NM_015362,AC003688,CH471108,AB013910,AF070658,AF087868,AF163262,AK225983,AK289940,AL713741,BC002762,NM_203415,BE743557,BF982004,BM970924,BQ648358,CA431021,CA450318,CF135215,CR603123,CR612110 NP_981960,NP_981959,NP_981958,NP_056177,EAW90230,EAW90231,EAW90232,BAB87800,AAD20964,AAM10496,AAQ13591,BAF82629,CAH56280,AAH02762,Q8TE02 Hs.417029 DERP6|HSPC002|MST071|MSTP071 S-phase 2 protein|dermal papilla derived protein 6|dermal papilla-derived protein 6 protein-coding 1601914 C17orf82 chromosome 17 open reading frame 82 12477932,19893584,20383146,17207965 388407 NM_203425,AC005746,CH471179,BC046200 NP_982249,EAW51427,AAH46200,Q86X59,ADQ33068 Hs.434459 putative uncharacterized protein C17orf82 protein-coding 1602088 C17orf84 chromosome 17 open reading frame 84 84185 Q9H656 AK026247 BAB15410,Q9H656 Hs.684545 FLJ22594 protein-coding 1604808 C17orf85 chromosome 17 open reading frame 85 16344560,14702039,12477932,11412301,9373149,8125298 55421 NM_018553,NM_001114118,AC116914,CH471108,CS185602,AJ277841,AK125048,AK223470,BC010707,BC011733,DA815746,DA855232,AC005940 NP_061023,NP_001107590,EAW90477,EAW90478,EAW90479,CAJ42783,CAB91001,BAG54129,BAD97190,AAH10707,Q53F19,AAI46420,AAI48857 Hs.120963 ELG|HSA277841 ELG protein protein-coding 2304147 C17orf86 chromosome 17 open reading frame 86 16373490,16344560 654434 NR_027058,AC015815,AF130050,AK098448,BX648413,DA068554,DA916381,FN357117,FN357118,FN357121,FN357125 AAG35478,Q9H3C1,CAY10351,CAY10352,CAY10355,CAY10359 Hs.720923 DKFZp686L05235|FLJ25582|PRO0872 miscrna 1604451 C17orf87 chromosome 17 open reading frame 87 18029348,14702039,12975309,12477932 388325 NM_207103,AC087500,CH471108,AK057142,AK297035,AK310145,AY358809,BC127925,BC130554,BC130556,BC144395,CR612993,DQ778084 ADR82817,ADR83350,NP_996986,EAW90348,EAW90349,EAW90350,BAG59563,AAQ89169,AAI27926,AAI30555,AAI30557,AAI44396,ABI63348,Q6UWF3 Hs.462080 FLJ32580|MGC163426|MGC163428|UNQ5783 DTFT5783|transmembrane protein C17orf87 protein-coding 2303434 C17orf88 chromosome 17 open reading frame 88 16344560,15489334,12477932,10948432 23591 NR_026770,AC007993,AF143236,BC069097,DA188505,CH471178 AAD31315,Q9Y5M1,EAW51652 Hs.721804 APR-2 miscrna 1626571 C17orf89 chromosome 17 open reading frame 89 17287340,12477932 284184 AC027601,CH471099,AA534550,BC079831,BC127837,NM_001086521 EAW89640,AAI27838,A1L188,NP_001079990 Hs.356545 hypothetical protein LOC284184 protein-coding 1353586 C17orf9 chromosome 17 open reading frame 9 53397 2290031 C17orf90 chromosome 17 open reading frame 90 12477932,9110174,8619474,20877624 339229 NM_001039842,AC139530,AY007126,BC038412,BC048102,BC090923 NP_001034931,AAH90923,Q5BKU9 Hs.655241 MGC104712 hypothetical protein LOC339229 protein-coding 1605910 C17orf91 chromosome 17 open reading frame 91 12477932,9110174,8619474,16341674,16344560,20705733 84981 BX640650,BX648321,CR591309,AC130343,CH471108,AF070569,BC007813,BC070225,BC119720,BC119721,BI756450,AI147777,BM755383,BX509423,CR599859,DA543295,NR_028502,NR_028503,NR_028504,NR_028505,CR615473 Q0VDD5,EAW90585,EAW90586,AAI19721,AAI19722 Hs.597755,Hs.690945 DKFZp686O06159|MGC14376|MGC149751 miscrna 2291822 C17orf93 chromosome 17 open reading frame 93 12746837 360205 NR_024103,AF532777,AC091179 Hs.236557 C17orf93|PRAC2 miscrna 2298732 C17orf95 chromosome 17 open reading frame 95 12477932 124512 NM_001080510,AC005837,BC033998,BC045819,BC106939,CR593227,CR597996,CR599912,CR602837,CR617246 NP_001073979,AAH33998,AAH45819,Q86XA0 Hs.74655 hypothetical protein LOC124512 protein-coding 2299176 C17orf96 chromosome 17 open reading frame 96 16625196 100170841 NM_001130677,AC006449,CH471152,CR609746 NP_001124149,EAW60520,A6NHQ4 Hs.445574 Uncharacterized protein ENSP00000317905|hypothetical protein LOC100170841 protein-coding 1606638 C17orf97 chromosome 17 open reading frame 97 12477932 400566 AC141424,AK128660,BC057385,NM_001013672,BC070116,BC141806,BG056786 NP_001013694,BAC87555,AAH70116,AAI41807,Q6ZQX7,AAH57385 Hs.499607 hypothetical protein LOC400566 protein-coding 2299180 C17orf98 chromosome 17 open reading frame 98 16625196 388381 NM_001080465,AC006449,CH471152,AW182930,DY654789 NP_001073934,EAW60538,A8MV24 Hs.250182 Uncharacterized protein LOC388381|hypothetical protein LOC388381 protein-coding 2299182 C17orf99 chromosome 17 open reading frame 99 15340161,12975309,11181995 100141515 NM_001163075,AC021593,CH471099,AK303128,AY358510 NP_001156547,EAW89498,BAG64234,AAQ88874,Q6UX52 Hs.633034 FLJ50084|UNQ464 GLPG464|hypothetical protein LOC100141515 protein-coding 1313099 C18orf1 chromosome 18 open reading frame 1 19834535,20379614,9479497,19430479,16344560,15489334,14702039,12477932,9399696,9129712,7566098,17207965 753 NM_181481,NM_181482,NM_001003674,NM_001003675,NM_004338,NM_181483,AF009428,AF009429,AF009430,AF009431,AF009432,AF009433,AF009434,AF009435,AF009436,AF009437,AP001010,AP002439,AP002505,AP005131,CH471113,AA310737,AF009424,AF009425,AF009426,AF009427,AK023474,AK055028,AK291574,BC029958,BC030199,BC047093,BC066971,BM917439,DA369876,DB272592,H04910,N48737 NP_852146,NP_852147,NP_001003674,NP_001003675,NP_004329,NP_852148,EAX01511,EAX01512,EAX01513,EAX01514,AAC52023,AAC52024,AAC52025,AAC52026,BAG51451,BAF84263,AAH30199,AAH66971,O15165,ADQ31925 Hs.149363 clone 22|hypothetical protein LOC753 protein-coding 1321554 C18orf10 chromosome 18 open reading frame 10 737633 15489334,15334068,15221005,12477932,16189514 737633 25941 NM_015476,AC009854,AC090333,CH471088,AB073382,AK000543,AK295817,AL050225,AY598336,BC015178,BC022199,BC087845,CR591861,CR594989,CR595055,CR599773,CR606665,CR614442,CR617734,CR618149,CR618412,CR618841,CR619714,CR620916,CR622100,CR622238,CR593553 NP_056291,EAX01383,EAX01384,EAX01385,EAX01386,BAD38633,BAG58634,CAB43322,AAT06747,AAH15178,AAH22199,AAH87845,Q68CL5 Hs.436636 DKFZp586M1523|HMFN0601|HsT3006|L17|PGs2 tubulin polyglutamylase complex subunit 2 protein-coding 1349999 C18orf12 chromosome 18 open reading frame 12 84322 Q96KH6 AB027121 BAB47121,Q96KH6 Hs.334493 HEIL1|HsT2508 protein-coding 1354305 C18orf15 chromosome 18 open reading frame 15 14702039 147276 AK055900 1347753 C18orf16 chromosome 18 open reading frame 16 15489334,14702039,12477932 147429 NR_026908,AC010854,BC112070,AC018371,CH471088,AK055069,BC043377,BC105127 Q96NN2,EAX01231,BAB70850 Hs.559280 FLJ30507|MGC138275 miscrna 1342701 C18orf18 chromosome 18 open reading frame 18 737633 15489334,12477932 737633 147525 NR_026849,AP001496,CH471113,AK292743,BC010538 EAX01649,BAF85432,Q96FQ7 Hs.657197 HsT959|MGC17515 miscrna 1352066 C18orf19 chromosome 18 open reading frame 19 737633 19615732,16344560,14702039,12477932,20877624 737633 125228 NM_152352,NM_001098801,AP001010,AP001525,CH471113,AA602175,AK055618,AK309506,AK309819,BU189118,CB987819,DA560663,DA573992,DA895646,DA984075 NP_689565,NP_001092271,EAX01508,EAX01509,BAB70973,Q96ND0 Hs.13034 HsT2329|MGC24180 OTTHUMP00000162510|hypothetical protein LOC125228 protein-coding 1343439 C18orf2 chromosome 18 open reading frame 2 14702039,11173868,19727025 56651 NR_023925,NR_023926,NR_023927,NR_023928,AP000829,AP005119,CH471113,AF295725,AF295726,AF295727,AF295728,AF295729,AF295730,AK057505 EAX01703,EAX01704,AAK13319,AAK13320,AAK13321,Q9BZP3 Hs.541165 miscrna 1350003 C18orf20 chromosome 18 open reading frame 20 737633 15489334,12477932,18851979,21041692 737633 221241 NR_027245,AC021607,CH471096,AY336744,BC029565 EAW63167,AAQ16114,Q7Z4B0,ABW03742,ABW03412 Hs.567778 HsT1235|MGC39571 miscrna 1347622 C18orf21 chromosome 18 open reading frame 21 737633 16964243,15489334,14702039,12477932 737633 83608 NM_031446,AC091060,CH471088,AF277182,AF277189,AY631401,BC025950,BC108730,BC119765,BC119766,BX460890,CR608062,CR613371,AA648431,AW967900,DN991579,NM_001201474,NM_001201475,NM_001201476,W84353 NP_113634,EAX01362,EAX01363,EAX01364,AAK07541,AAK07547,AAH25950,AAI08731,AAI19766,AAI19767,Q32NC0,Q8TBS0,ABM83053,ABM86246,AAT51696,NP_001188403,NP_001188404,NP_001188405 Hs.37883 HsT3108|MGC131953|PNAS-124|PNAS-131|XTP13 HBV X-transactivated protein 13|chromosome 18 open reading frame 21 protein-coding 1323615 C18orf22 chromosome 18 open reading frame 22 737633 15489334,14702039,12477932,20562859,17207965 737633 79863 AC090360,CH471117,AF261073,AF439745,AK024825,BC014195,BC057772,CR593794,CR602922,NM_024805,AK124595,AK307212,AK311239,AK311463,NM_001171967 NP_079081,EAW66642,EAW66643,EAW66644,AAM20740,AAL32051,BAB15022,AAH14195,AAH57772,Q8N0V3,NP_001165438,ADQ31736 Hs.593610 C18orf22|FLJ18281|FLJ18505|FLJ21172|FLJ42604|FLJ97160|HsT169 putative ribosome-binding factor A, mitochondrial protein-coding 1354365 C18orf23 chromosome 18 open reading frame 23 14702039 147341 NM_152470,AK091537 1318467 C18orf25 chromosome 18 open reading frame 25 737633 19240061,17081983,16344560,16189514,15722956,15489334,12477932 737633 147339 BG497739,BK005125,BM561576,BU192741,BU663975,BX640683,CR625809,DA818562,DB284444,NM_001008239,AC021763,AC118647,CH471088,CS185648,AI374757,AK289738,AK292981,AL713661,AL832027,BC016149,NM_145055,BC084579 DAA05329,CAE45812,Q96B23,NP_659492,NP_001008240,EAX01472,EAX01473,CAJ42829,BAF82427,BAF85670,CAD28470,CAD89920,AAH16149,AAH84579 Hs.116486 ARKL1|MGC12909|MGC87799 ARKadia-like 1|hypothetical protein LOC147339 protein-coding 1344523 C18orf26 chromosome 18 open reading frame 26 14702039,20978158 284254 NM_173629,AC091135,CH471096,AK096425,CR621783 NP_775900,EAW63007,BAC04784,Q8N1N2 Hs.376146 DYNAP|FLJ39106 dynactin-associated protein|hypothetical protein LOC284254 protein-coding 1626573 C18orf32 chromosome 18 open reading frame 32 8889548,12761501,12477932 497661 BF210402,BF512018,BP395434,CB852935,NM_001199346,NM_001035005,AC100778,AB097012,AK027111,AK291882,BC022357,BC093004,CR590428,CR614700,CR622403,CR622566 Q8TCD1,NP_001186275,ADR82680,NP_001030177,BAC77365,BAF84571,AAH22357,AAH93004 Hs.603040,Hs.654638 FLJ23458 hypothetical protein LOC497661|putative NFkB activating protein protein-coding 1626518 C18orf33 chromosome 18 open reading frame 33 14702039 100113406 XM_001714254,XM_001721257,XM_001721238,AC015819,AK096231 XP_001714306,XP_001721309,XP_001721290,BAC04734,Q8N8S9 Hs.638428 FLJ38912 protein-coding 1317773 C18orf34 chromosome 18 open reading frame 34 737633 17081983,15489334,14702039,12477932,20379614 737633 374864 BC144178,NM_198995,NM_001105528,AC025888,AC090371,AC100845,AC104956,AC116607,CH471088,AK000027,AK126038,AK129955,BC062719,BC091517,BC130535,BC144179 NP_945346,NP_001098998,EAX01301,BAC86407,BAC85257,AAH62719,AAH91517,AAI30536,Q5BJE1,Q6P5S0,ADR83389,AAI44179 Hs.115461 FLJ44050|MGC111498|MGC163407 OTTHUMP00000163121|hypothetical protein LOC374864 protein-coding 1354418 C18orf41 chromosome 18 open reading frame 41 401894 XM_377496 1351617 C18orf45 chromosome 18 open reading frame 45 737633 18391951,16189514,12477932,20546612 737633 85019 CR610638,NM_032933,AC011731,AC026634,CH471088,AK123623,AK126247,AK294916,AK303553,AK314123,BC006280,BC054507,BC082984,BC114510,BC114561 AAI14562,Q24JQ0,NP_116322,EAX01150,BAC85665,BAC86502,BAG58001,BAG64577,BAG36814,AAH54507,AAI14511 Hs.137562 FLJ44259|MGC11386|MGC138577 transmembrane protein C18orf45 protein-coding 1603142 C18orf49 chromosome 18 open reading frame 49 12477932 400653 BC047606,AK000229 Hs.699275 FLJ20222 protein-coding 1348374 C18orf54 chromosome 18 open reading frame 54 16189514,15489334,14702039,12477932,17207965 162681 NM_173529,AC087395,AC093462,CH471096,AK126503,BC036054,BC043651,BX640877 NP_775800,EAW63006,BAC86570,AAH36054,CAE45934,Q8IYD9,ADQ32333 Hs.208701 LAS2|MGC33382 hypothetical protein LOC162681 protein-coding 1351951 C18orf55 chromosome 18 open reading frame 55 737633 12477932,11042152,20877624,15489334 737633 29090 NM_014177,AC084702,CH471117,AF161503,AK289923,AK313936,BC000892,BG431414,BG820086,CR620926 NP_054896,EAW66540,EAW66541,EAW66542,EAW66543,AAF29118,BAF82612,BAG36655,AAH00892,Q9BVV7,ABM82061,ABM85240 Hs.532835 HSPC154 TIM21-like protein, mitochondrial protein-coding 1345093 C18orf56 chromosome 18 open reading frame 56 18482256,8889548,16189514,12477932,19913121,20628086 494514 AK289986,BM695182,NM_001012716,AP001178,CH471113,BC028301 BAF82675,NP_001012734,EAX01723,AAH28301,Q8TAI1 Hs.723326 putative uncharacterized protein C18orf56 protein-coding 1354422 C18orf57 chromosome 18 open reading frame 57 54523 AL137361 Hs.98173 DKFZP434C0826|DKFZp434C0826 hypothetical protein LOC54523 protein-coding 1345723 C18orf58 chromosome 18 open reading frame 58 14702039 284222 NM_173817,AP005117,AP005120,AK092226 NP_776178,BAC03832,Q8NAR6 Hs.436902 FLJ34907 protein-coding 1349119 C18orf61 chromosome 18 open reading frame 61 497259 1604712 C18orf62 chromosome 18 open reading frame 62 14702039,12477932 284274 NM_001037331,AC116003,CH471117,AK093452,BC037871,BC105945,BC107486 NP_001032408,EAW66572,AAI07487,Q3B7S5 Hs.666744 MGC126049 putative uncharacterized protein C18orf62 protein-coding 1323450 C18orf8 chromosome 18 open reading frame 8 737633 17081983,15489334,14702039,12477932,20562859 737633 29919 NM_013326,AC010853,AC026634,CH471088,AF143536,AK027106,AK057192,BC002950,BC008305,CN481504,CR592203,CR626373,AK294169,AK295246,AK296230 NP_037458,EAX01155,EAX01156,EAX01157,AAD33909,BAB71377,AAH02950,AAH08305,Q96DM3,BAH11687,BAH12017,BAH12287 Hs.464779 FLJ23453|HsT2591|MIC1 colon cancer associated protein Mic1|colon cancer-associated protein Mic1 protein-coding 1345552 C19orf10 chromosome 19 open reading frame 10 The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq] 17362502,16713569,15489334,15057824,14641539,12477932,12077275,16169070 56005 NM_019107,AC005594,CH471139,AF282264,AK098829,AL365373,AL365374,BC003639,BC010129,BC014655,BG484758,CR598941,CR606038,CR606625,CR612786,CR614526,CR616467,AC005339 NP_061980,AAC27824,AAC33800,EAW69202,EAW69203,CAB96947,CAB96948,AAH03639,AAH10129,AAH14655,Q969H8 Hs.465645 EUROIMAGE1875335|IL25|IL27|IL27w|R33729_1|SF20 hypothetical protein LOC56005|interleukin 25|interleukin 27 working designation|stromal cell-derived growth factor protein-coding 1319491 C19orf12 chromosome 19 open reading frame 12 737633 16344560,14702039,12477932,20098747 737633 83636 NM_031448,NM_001031726,AC010513,AC010644,AK057185,AL162066,BC004957,BC009946,BC017211,BC063518,BI753584,CR604380,CR605860,CR615514,CR616725,CR618605,DA064969,DA708831,DB541407 NP_113636,NP_001026896,BAG51878,CAB82403,AAH04957,AAH09946,AAH17211,AAH63518,Q9NSK7 Hs.529094 DKFZp762D096|MGC10922 hypothetical protein LOC83636 protein-coding 1342903 C19orf18 chromosome 19 open reading frame 18 737633 15489334,12477932 737633 147685 NM_152474,AC010326,CH471135,BC033933 NP_689687,EAW72545,AAH33933,Q8NEA5 Hs.134209 MGC41906 hypothetical protein LOC147685 protein-coding 1321217 C19orf2 chromosome 19 open reading frame 2 The protein encoded by this gene binds to RNA polymerase II subunit 5 (RPB5) and negatively modulates transcription through its binding to RPB5. The encoded protein seems to have inhibitory effects on various types of activated transcription, but it requires the RPB5-binding region. This protein acts as a corepressor. It is suggested that it may require signaling processes for its function or that it negatively modulates genes in the chromatin structure. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 16055720,17643375,19450687,20379614,9819440,9878255,17936702,17081983,15367675,14702039,14615539,12737519,12477932,11827465 8725 NM_134447,AC008507,AF091095,AK001437,AK226173,AK292170,AK314313,BC014933,BC026184,BC067259,CR591124,CR606677,NM_003796 NP_003787,NP_604431,AAD08679,BAG50914,BAF84859,AAH14933,AAH26184,AAH67259,O94763,Q6NX55,Q8TC23,Q96C15 Hs.466391 FLJ10575|NNX3|RMP|URI RNA polymerase II subunit 5-mediating protein|RNA polymerase II, subunit 5-mediating protein|RPB5-mediating protein|unconventional prefoldin RPB5 interactor protein-coding 1323455 C19orf20 chromosome 19 open reading frame 20 16341674,15489334,14702039,12972506,12477932,11441184 91978 NM_033513,AC005775,AC011531,CH471242,AK126170,BC009520,BM846833 NP_277048,EAW61192,EAW61193,BAC86469,AAH09520,Q6ZTW0,AAI48688,AAI52802 Hs.369613 GTRGEO22|PGs1 gene trap ROSA b-geo 22|tubulin polyglutamylase complex subunit 1 protein-coding 1317766 C19orf21 chromosome 19 open reading frame 21 737633 17081983,16565220,16083285,15489334,12477932 737633 126353 NM_173481,AC004030,CH471242,BC042125,BC052236,BX648389,BX648815 NP_775752,EAW61160,AAH42125,AAH52236,Q8IVT2 Hs.439180 DKFZp686H18209 hypothetical protein LOC126353 protein-coding 1316037 C19orf22 chromosome 19 open reading frame 22 737633 15489334,12477932 737633 91300 AC005379,AC112706,CH471139,AK000263,AK024622,BC012775,CR592767,CR596729,CR597374,CR599301,CR606082,CR608111,CR614470,CR614472,CR615271,CR616128,CR616662,CR617180,CR617940,CR619216,NM_138774,CR622307,CR624510 NP_620129,EAW69584,Q96D70 Hs.557655 MGC16353 R3H domain-containing protein C19orf22 protein-coding 1352831 C19orf23 chromosome 19 open reading frame 23 737633 15489334,12477932,17207965 737633 148046 NR_027271,AC004221,AC004258,CH471139,BC026041 EAW69526,Q8TBR5,ADQ32242 Hs.438829 MGC39338 miscrna 1346714 C19orf24 chromosome 19 open reading frame 24 737633 16847563,15489334,14702039,12477932,9373149,8889548,8125298 737633 55009 NM_017914,AC004258,CH471139,AK000647,AK096105,AK225502,BC000890,BC012080,BG333480,BM675280,BX402818,CR610772 NP_060384,EAW69518,EAW69519,BAA91305,AAH00890,Q9BVV8 Hs.591383 FLJ20640 hypothetical protein LOC55009 protein-coding 1352315 C19orf25 chromosome 19 open reading frame 25 19913121,20628086,16189514,16303743,15489334,15342556,14702039,12477932,9110174,8619474,17207965 148223 AC027307,CH471139,CQ783391,AK075267,AK093985,AK297944,AL122089,AY007120,BC018441,BP210473,CR596309,CR603275,CR616237,NM_152482 NP_689695,EAW69495,CAF86596,BAG52098,BAC04262,BAG60260,CAB59260,AAH18441,Q9UFG5,ADQ32390 Hs.532840 FLJ36666 hypothetical protein LOC148223 protein-coding 1316225 C19orf26 chromosome 19 open reading frame 26 737633 17081983,15489334,15057824,12477932,17207965 737633 255057 NM_152769,AC004221,CH471139,BC028156 NP_689982,AAC04305,EAW69535,EAW69536,EAW69537,AAH28156,Q8N350,ADQ31791 Hs.721076 DOS|MGC40084 downstream of Stk11|protein Dos protein-coding 1317080 C19orf28 chromosome 19 open reading frame 28 737633 15489334,12477932 737633 126321 NM_001042680,NM_021731,NM_174983,AC005786,AC005787,CH471139,AF218008,AL556500,BC036706,BC068439,BG763518,CR600462,CR601769,CR607935,CR623233,EU375738 NP_001036145,NP_068377,NP_778148,EAW69309,EAW69310,EAW69311,AAG17250,AAH36706,AAH68439,ABY76320,Q6NUT3,Q9HBP8,ABM83210,ABM86410 Hs.656901 MGC20700|PP3501 hypothetical protein LOC126321 protein-coding 1344995 C19orf29 chromosome 19 open reading frame 29 14667819,15302935,15489334,15197164,15146197,15057824,12477932,11991638,10508479,9110174,8619474,17353931,19913121,20628086 58509 NM_001080543,NM_021231,AC005175,AC005542,AF052087,AF155102,AK299963,AW027691,AY917150,BC004262,BC019848,BF196424,CF272634,CN305928,CO248922 NP_001074012,NP_067054,AAC24305,AAC32903,AAD42868,BAG61789,AAX84551,AAH04262,AAH19848,Q8WUQ7,AAI56485,AAI72549 Hs.727616 FLJ17482|FLJ59622|NY-REN-24|cactin|fSAPc NY REN 24 antigen|NY-REN-24 antigen|cactin homolog|chromosome 19 open reading frame 29|functional spliceosome-associated protein c protein-coding 1347642 C19orf29OS chromosome 19 open reading frame 29 opposite strand 14702039 404665 XR_078668,XR_079396,XR_078852,AC005175,AK097999 Q8N1I8 Hs.128425,Hs.719726 miscrna 1347493 C19orf30 chromosome 19 open reading frame 30 16344560,15489334,12477932,11854097 284424 NR_027148,AC006537,CH471139,AB058892,AB058893,BC090884,BC117294,BC117296,BE671262,DB051621 EAW69196,EAW69197,EAW69198,BAB40233,BAB40234,Q8N6C7 Hs.326728 PGSF1 miscrna 1348009 C19orf31 chromosome 19 open reading frame 31 14702039 404664 Q8N1I2 NM_001014373,AC027319,AK098038 NP_001014395,BAC05219,Q8N1I2 Hs.620488 FLJ40719 protein-coding 1354281 C19orf33 chromosome 19 open reading frame 33 20432246,11606055,18507030,17309599,17081983,16189703,15489334,14981917,12477932,11080599 64073 NM_033520,AC011479,AF325216,CH471126,AB038317,AB038318,AF213678,BC008888,BC014264,BC060319 NP_277055,AAK01421,EAW56769,EAW56770,BAB18465,BAB18466,AAG43574,AAH14264,AAH60319,Q9GZP8 Hs.631544 H2RSP|IMUP|IMUP-1|IMUP-2|MGC39135|MGC75180 HAI-2 related small protein|HAI-2-related small protein|hepatocyte growth factor activator inhibitor type 2-related small protein|immortalization up-regulated protein|immortalization-upregulated protein protein-coding 1345479 C19orf34 chromosome 19 open reading frame 34 737633 16344560,15489334,15342556,12477932,10737800 737633 255193 AC012615,CH471139,BC029585,BP368884,CV378841,DB337348,NR_033400 EAW69432,AAH29585,Q8NCQ2 Hs.374717 MGC39696 miscrna 1352021 C19orf35 chromosome 19 open reading frame 35 14702039,12477932 374872 NM_198532,AC004152,CH471139,AK127680,BC107678 Q6ZS72,NP_940934,EAW69392,BAC87082 Hs.511803 FLJ45778 putative uncharacterized protein C19orf35 protein-coding 1349340 C19orf36 chromosome 19 open reading frame 36 737633 19658160,17207965,15489334,12975309,12477932 737633 113177 NM_001039846,NM_001031735,AC005328,AC005545,CH471139,AK294083,AK301957,AW182303,AY358444,AY753639,BC010443,BC014609,BC040964,BI827974,BX378854,DQ196309,DQ196310,DQ424900 NP_001034935,NP_001026905,AAC27671,AAC34213,EAW69419,EAW69420,EAW69421,BAG57424,BAG63371,AAQ88809,AAX09280,AAH10443,AAH14609,ADQ31651,ABA28617,ABA28618,ABD83665,O75250,Q1ZYL8,Q7LE06 Hs.424049 C19orf36|IMAGE:4215339 IZUMO family member 4|OTTHUMP00000180601|hypothetical protein LOC113177|izumo sperm-egg fusion protein 4|putative SAMP14 binding protein variant 1|putative SAMP14 binding protein variant 2|sperm 22 kDa protein c113 protein-coding 2302125 C19orf38 chromosome 19 open reading frame 38 15057824,12477932 255809 NM_001136482,AC007565,CH471106,BC157863 NP_001129954,EAW84154,AAI57864,A8MVS5 Hs.440535 HIDE1 protein HIDE1 protein-coding 1601725 C19orf39 chromosome 19 open reading frame 39 14702039,12477932 126074 NM_175871,AC024575,CH471106,AK092438,BC068071,BC119677 NP_787067,EAW84204,BAC03891,AAH68071,AAI19678,Q6NVH7 Hs.631619 FLJ35119|MGC149562|MGC78620 hypothetical protein LOC126074 protein-coding 1605898 C19orf40 chromosome 19 open reading frame 40 FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM] 18285517,20347428,18995830,18206976,18174376,17289582,16344560,15489334,12477932,20670894,17207965 91442 NM_152266,AC011449,AK128668,BC003535,BC010170,BC020247,DA006539 NP_689479,BAG54708,AAH03535,AAH10170,AAH20247,Q9BTP7,ADQ32151 Hs.579899 FAAP24|FLJ46828|MGC32020 Fanconi anemia-associated protein of 24 kDa|Fanconi anemia-associated protein, 24 kDa protein-coding 1606978 C19orf41 chromosome 19 open reading frame 41 12975309,12477932,19658160 126123 NM_152358,AC020906,AF479645,CH471135,AK131024,AK307321,AY358196,BC029535,HC006820,HC044823 NP_689571,AAQ05826,AAQ05827,EAW71837,BAC85478,AAQ88563,AAH29535,Q6UXV1,ABM81893,ABM85066,CBH19216,CBH30741 Hs.414175 C19orf41|MGC33947|PLAL6978|PRO21961|SCRL IZUMO family member 2|hypothetical protein LOC126123|izumo sperm-egg fusion protein 2 protein-coding 1601966 C19orf42 chromosome 19 open reading frame 42 12477932 79086 NM_024104,AC024075,CH471106,AK025602,AL702263,BC001680,BC001948,BC069279,BX648276,CR593639,CR597307,CR599944,CR600324,CR606257,CR615358,CR616041,CR616263,CR625214 NP_077009,EAW84555,EAW84556,EAW84557,EAW84558,Q9BQ49 Hs.667867 MGC2747 hypothetical protein LOC79086 protein-coding 1604305 C19orf43 chromosome 19 open reading frame 43 16189514,15489334,14702039,12477932 79002 AC018761,CH471106,AF061732,AK027588,AK315754,BC000216,BC004533,BC015347,BC040846,CR591036,CR598924,CR605443,CR606353,CR610021,CR621203,CR621512,CR624371,CR626693,NM_024038 Q9BQ61,ABM82375,NP_076943,EAW84302,AAG43143,BAG38108,AAH00216,AAH04533,AAH15347,Q9H3J7,ABM85554 Hs.515155 MGC2803|fSAP18 My029 protein|hypothetical protein LOC79002 protein-coding 1602089 C19orf44 chromosome 19 open reading frame 44 16344560,12477932,9373149 84167 NM_032207,AC008764,CH471106,AK025395,AK026145,AK225118,AK225678,AK311324,BC027869,DA491717,AK297781 NP_115583,EAW84547,EAW84548,BAB15125,AAH27869,Q9H6X5,BAG60125 Hs.631627 FLJ21742|FLJ22492 hypothetical protein LOC84167 protein-coding 1602810 C19orf45 chromosome 19 open reading frame 45 16344560,14702039,12477932 374877 NM_198534,AC008878,AK093103,AK301623,BC029824,BC034779,DB037908 NP_940936,BAC04057,BAG63108,AAH29824,AAH34779,Q8NA69 Hs.631862 FLJ35784|FLJ56642 hypothetical protein LOC374877 protein-coding 1602427 C19orf46 chromosome 19 open reading frame 46 14702039,12477932 163183 NM_001039876,AC002116,AF038458,AK093764,BC038360,BC052573,CR595098 NP_001034965,BAC04222,AAH52573,Q8N205 Hs.436743 FLJ36445 OTTHUMP00000219035|nesprin-4 protein-coding 1605879 C19orf47 chromosome 19 open reading frame 47 16381901,15489336,14702039,12477932,11230166,11076863 126526 AC118344,CH471126,AK094207,AL834131,BC023623,BC027935,CR591102,CR615433,CR936760,NM_178830 CAL38618,ACE87279,ACE86598,NP_849152,EAW56945,EAW56946,EAW56947,EAW56948,EAW56949,BAC04311,CAD38848,AAH23623,AAH27935,Q8N9M1,CAL37407,CAL37488,CAL38418 Hs.631557 DKFZp686P05129|FLJ36888 hypothetical protein LOC126526 protein-coding 1603189 C19orf48 chromosome 19 open reading frame 48 18698046,15489334,12477932,12452007,8889548,17207965 84798 CR623478,NM_199249,NM_199250,AC010325,CH471135,AY491972,BC006151,BC037227,BC051842,BM802982,BX508552,CF141966,CF146381,CR590605,CR591122,CR601120,CR604560,CR610794,CR611148,CR611743,CR614468,CR615248,CR615527,CR616224,CR625194 NP_954857,NP_954858,EAW71905,EAW71906,EAW71907,EAW71908,EAW71909,AAR36899,AAH06151,AAH37227,AAH51842,Q6RUI8,ADQ32837 Hs.256301 MGC13170 multidrug resistance-related protein protein-coding 1605904 C19orf49 chromosome 19 open reading frame 49 12477932 90198 Q86XP5 AC011497,AF497566,AK026018,BC093649,BC111942,BF941059,CB122799,NM_178121 AAO85531,AAH93649,AAI11943,Q86XP5,NP_835222 Hs.558582 FLJ22365|MGC138147|SBP1 protein-coding 1601969 C19orf50 chromosome 19 open reading frame 50 16189514,14702039,12477932,17207965,16341674,16344560 79036 NM_024069,AC005253,CH471106,AF173381,AK091145,AK098346,BC001080,BC006479,CR622494,AK125365,BM781878,BX648739,DA542130,DA616317,NM_001171948,NM_001171949 NP_076974,AAC25583,EAW84712,EAW84713,EAW84714,AAQ13622,AAH01080,AAH06479,Q7Z4E2,Q9BQD3,ADQ32857,NP_001165419,NP_001165420 Hs.369785 DKFZp686B1038|FLJ25480|FLJ43375|MGC2749|MST096|MSTP096 hypothetical protein LOC79036 protein-coding 1602406 C19orf51 chromosome 19 open reading frame 51 14702039,12477932 352909 NM_178837,AC010327,CH471135,AK093458,AK093473,AK097388,BC016843,BC063449 NP_849159,EAW72343,BAC04172,BAC04177,BAC05029,AAH16843,AAH63449,Q8N9W5 Hs.351582 FLJ36139|FLJ40069 OTTHUMP00000158687|hypothetical protein LOC352909 protein-coding 1602195 C19orf52 chromosome 19 open reading frame 52 15489334,12477932 90580 AC011442,NM_138358,CH471106,BC005075,BC007244,BC011833,CR602315,CR607504,CR618878 NP_612367,EAW84160,AAH05075,AAH07244,AAH11833,Q9BSF4 Hs.164026 hypothetical protein LOC90580 protein-coding 1606305 C19orf53 chromosome 19 open reading frame 53 16344560,15635413,15489334,12477932,11042152,10540346,20379614 28974 NM_014047,AC008686,CH471106,AF078852,AF086483,AI689503,AK311855,BC015465,DA768829 NP_054766,EAW84372,AAD44484,BAG34796,AAH15465,Q9UNZ5,ABM82495,ABM85687 Hs.231616 HSPC023|LYDG10 leydig cell tumor 10 kDa protein homolog protein-coding 1604490 C19orf54 chromosome 19 open reading frame 54 16344560,15146197,12477932 284325 NM_198476,AC020945,CH471126,AI250667,AK123126,AK298068,AK310021,BC020262,BC090894,BC131602,BI521309,CN281611,DA073426 NP_940878,EAW56994,BAC85538,BAG60359,AAH90894,Q5BKX5,Q6ZWG5 Hs.585105 FLJ17063|FLJ41131|MGC103014 hypothetical protein LOC284325 protein-coding 1603570 C19orf55 chromosome 19 open reading frame 55 16344560,14702039,12477932 148137 NM_001039887,AC002398,AK055219,AK124144,AL833894,BC017947,BC110893,DB086668 NP_001034976,BAB70878,CAD38750,AAH17947,AAI10894,Q2NL68 Hs.527982 DKFZp434C2231|FLJ30657|MGC131952 hypothetical protein LOC148137 protein-coding 1605383 C19orf56 chromosome 19 open reading frame 56 15489334,14702039,12477932,10810093,17207965 51398 AC010422,CH471106,CQ834262,AA694460,AF059620,AF078861,AF151898,AK091030,AK311944,BC001192,BC042919,BC061912,BG818399,NM_016145,CS488890 EAW84285,EAW84286,CAH05346,AAG43119,AAD44493,AAD34135,BAG34885,AAH01192,AAH42919,AAH61912,Q9Y284,NP_057229,ADQ33050,CAM55964 Hs.108969,Hs.657204 PTD008 hypothetical protein LOC51398 protein-coding 1603955 C19orf57 chromosome 19 open reading frame 57 16189514,8228263,14702039,12477932,19060904,20098747 79173 NM_024323,AC020916,CH471106,AK097431,BC002891,BC012945,BC119718,BC119719,CR601980,L17327 NP_077299,EAW84376,EAW84377,EAW84378,EAW84379,BAC05049,AAH02891,AAH12945,AAI19720,AAB02340,Q0VDD7 Hs.143288 MGC11271|MGC149720 hypothetical protein LOC79173|pre-T/NK cell associated protein (3B3) protein-coding 1604975 C19orf59 chromosome 19 open reading frame 59 This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. 15953541,15489334,12477932 199675 NM_174918,AC008763,CH471139,AF461155,AF461156,BC035847,BC104796,BC104798,CA309750,CR620460 NP_777578,EAW69013,EAW69014,AAO15597,AAO15598,AAI04797,AAI04799,Q8IX19 Hs.709539 MCEMP1|MGC132456 mast cell-expressed membrane protein 1 protein-coding 1322435 C19orf6 chromosome 19 open reading frame 6 16084606,15489334,15057824,14702039,12638133,12477932,16169070 91304 NM_033420,NM_001033026,AC004528,CH471139,AK090400,AK095756,AY140906,BC008957,BQ895919,CR592871,CR608116,DQ005958 NP_219488,NP_001028198,AAC12681,EAW69571,EAW69572,EAW69573,EAW69574,EAW69575,BAC03381,BAG53122,AAN25597,AAH08957,AAY27747,Q4ZIN3,Q8IWT9,ABM84150,ABM87553 Hs.515003 ASBABP1|MBRL|MEMBRALIN|MGC4022|R32184_3 aspecific BCL2 ARE-binding protein 1|membralin protein-coding 1605988 C19orf60 chromosome 19 open reading frame 60 14702039,16344560,12477932,16189514,17207965,19060904,19615732,19770013 55049 NM_001100418,NM_001100419,AC003112,CH471106,AK000857,AK054670,AK091925,AK094710,BC012078,BI836487,CR616719,CR625418,DB254892 NP_001093888,NP_001093889,EAW84719,EAW84720,EAW84721,EAW84722,EAW84723,BAA91400,BAC03773,AAH12078,Q96EN9,ADQ32374 Hs.655317 FLJ20850|FLJ30108|FLJ34606|FLJ37391 hypothetical protein LOC55049 protein-coding 1606789 C19orf61 chromosome 19 open reading frame 61 12477932,11230166,8889548,19417104,11256614,16344560,14702039 56006 NM_019108,AC004780,CH471126,AK022948,AK309830,AL136606,BC008869,BM981890,CR606035,DA356912 NP_061981,AAC17932,EAW57223,EAW57224,EAW57225,EAW57226,EAW57227,EAW57228,BAB14323,CAB66541,AAH08869,Q9H0W8 Hs.466875 DKFZp564H1322|F17127_1|FLJ12886|SMG9 protein SMG9|protein smg-9 homolog protein-coding 1602893 C19orf62 chromosome 19 open reading frame 62 19261748,19261749,19261746,19214193,17353931,16381901,16189514,15489336,12477932,11230166,11076863,11042152,9373149,8125298,20852631,19572197,19615732,20852633 29086 NM_001033549,NM_014173,AC010463,AC104522,CH471106,AF161491,AJ572521,AK000578,AK025970,AK225047,AK299493,AK301193,AK308590,AL136692,BC000788,BC006244,BC091491,CR533526,CR592021,CR597425,CR601610,CR605419,CR609943,CR621679,CR625481,CR625721 NP_001028721,NP_054892,EAW84584,EAW84585,AAF29106,BAA91268,BAG61451,BAG62773,CAB66627,AAH00788,AAH06244,AAH91491,CAG38557,Q9NWV8,CAL38513,CAL38600 Hs.190722 FLJ20571|HSPC142|MERIT40|NBA1 BRCA1-A complex subunit MERIT40|hspc142 protein|mediator of RAP80 interactions and targeting subunit of 40 kDa|mediator of Rap80 interactions and targeting 40 kDa|new component of the BRCA1 A complex|new component of the BRCA1-A complex|new component of the BRCAA1 A complex protein-coding 1602050 C19orf63 chromosome 19 open reading frame 63 15146197,12975309,12477932,19570817,20379614 284361 NM_175063,NM_206538,AC020909,CH471135,AL512761,AY194293,AY358710,AY761095,AY761097,BC032948,BC035001,BC062607,BI914408,BX366174,CN423491,CR590399,CR593504,CR604660,CR605185,CR607660,CR618362,CR624296 NP_778233,NP_996261,EAW71871,EAW71872,EAW71873,CAH10658,AAO23975,AAQ89073,AAV30543,AAV30545,AAH32948,AAH35001,Q5UCC4 Hs.448941,Hs.515550 HSM1|HSS1|INM02|MGC33203 hematopoietic signal peptide-containing|hematopoietic signal peptide-containing membrane domain-containing 1|hematopoietic signal peptide-containing secreted 1 protein-coding 1626536 C19orf64 chromosome 19 open reading frame 64 14702039 100113377 AK098244 BAC05269,Q8N7K9 Hs.266873 protein-coding 1605065 C19orf66 chromosome 19 open reading frame 66 14702039,12477932 55337 DB481173,NM_018381,AC020931,CH471106,CQ859736,AK001098,AK002148,AK096142,AK098062,AL137694,BC010847,BC026180,BC035817,CR590846,CR592012,CR592313,CR594187 Q9NUL5,NP_060851,EAW84066,EAW84067,EAW84068,EAW84069,EAW84070,CAH25918,BAA92109,BAC04710,AAH10847,AAH26180,AAH35817 Hs.655613 FLJ11286|FLJ40743 hypothetical protein LOC55337 protein-coding 2311616 C19orf67 chromosome 19 open reading frame 67 15057824 646457 XM_929382,AC022098 XP_934475,A6NJJ6 Hs.569971 UPF0575 protein|chromosome 19 open reading frame 67 protein-coding 1602629 C19orf68 chromosome 19 open reading frame 68 19773279,20379614,12477932 374920 XM_001713770,XM_001713771,XM_001713772,AC011466,CH471177,BC043386 XP_001713822,XP_001713823,XP_001713824,EAW52318,AAH43386,Q86XI8 Hs.664054 MGC50339 hypothetical protein LOC374920 protein-coding 2299179 C19orf69 chromosome 19 open reading frame 69 15057824 100170765 NM_001130514,AC011526,CB047448 NP_001123986,A6NGS2 Hs.649452 hypothetical protein LOC100170765 protein-coding 1601829 C19orf70 chromosome 19 open reading frame 70 17353931,14702039,12477932 125988 NM_205767,AB167391,AC011499,CH471139,AK091768,BC009557,BC042386,BC052640,BM563199,CR596153,CR615232,FB342993,FB711116 NP_991330,BAE80091,EAW69159,EAW69160,AAH09557,AAH42386,Q5XKP0,CAR81497,CAS91513 Hs.356626 P117|QIL1 QIL1 protein|protein QIL1 protein-coding 2301120 C19orf71 chromosome 19 open reading frame 71 15057824 100128569 NM_001135580,AC005786,AC005787,CH471139,AI138384,BX396051,DY654838 NP_001129052,EAW69312,A6NCJ1 Hs.664978 Uncharacterized protein ENSP00000327950|hypothetical protein LOC100128569 protein-coding 1602703 C19orf73 chromosome 19 open reading frame 73 17207965,14702039,12477932 55150 AC008687,CH471177,AK001352,BC051004,BC069669,BC069693,BC069712,NM_018111,BC069750 NP_060581,EAW52456,BAA91643,AAH51004,AAH69669,AAH69693,AAH69712,ADQ32878,AAH69750,Q9NVV2 Hs.458310 FLJ10490 putative uncharacterized protein C19orf73 protein-coding 1602049 C19orf75 chromosome 19 open reading frame 75 14702039,12477932 284369 NM_173635,AC063977,CH471135,AK097554,AK311591,HC006992,HC044797,BC126357,BC126359,BC144002 NP_775906,EAW71997,EAW71998,BAC05098,CBH19301,CBH30728,AAI26358,AAI26360,AAI44003,Q8N7X8,ADR82847 Hs.381087 FLJ40235|MGC161635|MGC161637 hypothetical protein LOC284369 protein-coding 3499499 C19orf76 chromosome 19 open reading frame 76 12477932 199800 AC011495,AI937838,AL359598,BC022233,BC032764,BC112359,CH471177,NM_001101340 ACE86851,ACE87538,C9JUS6,EAW52522,NP_001094810 Hs.311193,Hs.607562 ADM5 putative adrenomedullin-5-like protein protein-coding 3380006 C19orf77 chromosome 19 open reading frame 77 12477932,16341674,8889548 284422 AC005551,AF161441,AX970540,BC146979,BC146984,BM769757,BU733823,CB178479,NM_001136503 AAF29001,AAI46980,AAI46985,CAF15648,NP_001129975,O75264 Hs.130714 HSPC323 transmembrane protein C19orf77|transmembrane protein HSPC323 protein-coding 1344891 C19orf8 chromosome 19 open reading frame 8 140783 1353943 C19orf9 chromosome 19 open reading frame 9 199775 BC021822 1607075 C1D C1D nuclear receptor co-repressor The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Several alternatively spliced transcript variants of this gene have been described, but the full length nature of some of these variants has not been determined. [provided by RefSeq] 9469821,17599775,17412707,15146197,12477932,12379155,11801738,11311939,10362552,9852280,9679063,9405624,16344560,19423540,20406964,20438785,20211142,20530579 10438 AI004680,DA900336,NM_001190263,NM_001190265,NM_006333,NM_173177,AC079112,AJ297543,CH471053,AK290451,BC005235,BC009584,BC009589,BC016284,BG505686,BM354091,CN342947,X95592 NP_001177192,NP_001177194,NP_006324,NP_775269,AAX88887,EAW99884,EAW99885,EAW99886,BAF83140,AAH05235,AAH09584,AAH09589,AAH16284,CAA64845,Q13901,ABZ92396 Hs.602900 LRP1|MGC12261|MGC14659|SUN-CoR|SUNCOR|hC1D C1D DNA-binding protein|C1D nuclear receptor co-repressor|OTTHUMP00000201764|OTTHUMP00000202688|nuclear DNA-binding protein|nuclear nucleic acid-binding protein C1D|small unique nuclear receptor co-repressor|small unique nuclear receptor corepressor protein-coding 3362449 C1DP1 C1D nuclear receptor corepressor pseudogene 1 11311939 554049 AL354750,NG_005140 bA195O1.1 pseudo 3129877 C1DP2 C1D nuclear receptor corepressor pseudogene 2 642538 AL356095,CH471142,NG_021450 EAW80418 bA369J21.3 pseudo 3129884 C1DP3 C1D nuclear receptor corepressor pseudogene 3 20379614 642521 AL356095,NG_021448 bA369J21.2 pseudo 2816606 C1DP4 C1D nuclear receptor corepressor pseudogene 4 727879 AL356095,NG_021449 pseudo 732029 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 The common core 1 O-glycan structure Gal-beta-1-3GalNAc-R is a precursor for many extended mucin-type O-glycan structures in animal cell surface and secreted glycoproteins. Core 1 is synthesized by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1) (Ju et al., 2002 [PubMed 11677243]).[supplied by OMIM] 632427,1580863 19357720,19229831,19073881,19010793,18985719,18840896,18061573,16344560,16251947,12690205,12477932,10580128,18695044,14702039,11677243,17228361,19524017,19556244,19923218,20379614 632427 56913 AI471988,AK023557,CB992707,CR609701,DB106731,NM_020156,AC005532,CH236948,CH471073,AF155582,AJ132443,AJ243256,AJ278960,BC003174,DA977378,NG_027732 NP_064541,AAQ96887,EAL24308,EAW93588,EAW93589,EAW93590,AAF81981,CAC45046,CAC80435,CAC82373,AAH03174,Q9NS00 Hs.239666,Hs.601347 C1GALT|T-synthase B3Gal-T8|beta 1,3-galactosyltransferase|beta-1,3-galactosyltransferase|core 1 O-glycan T-synthase|core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1|core 1 beta1,3-galactosyltransferase 1|core 1 beta3-Gal-T|core 1 beta3-Gal-T1|glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 protein-coding 1344219 C1GALT1C1 C1GALT1-specific chaperone 1 628501,1580863 18840896,18695044,18537974,18339842,18321367,18061573,17228361,16251947,12975309,12477932,12464682,12361956,11042152,19778426,19923218,20144270,8889548 628501 29071 NM_001011551,NM_152692,AC011890,CH471107,AA578739,AB084170,AF088029,AF161552,AF177284,AJ238398,AK290111,AY159319,AY358642,BC011930,BC012502,BC050441,BG779539,CR593612,CR618283,CR623043,BM971206,NG_016219 NP_001011551,NP_689905,EAX11873,BAC41493,AAF29039,AAQ13670,CAC80277,BAF82800,AAN78129,AAQ89005,AAH11930,AAH50441,Q96EU7 Hs.643920 C1GALT2|C1Gal-T2|C38H2-L1|COSMC|HSPC067|MGC19947|MST143|c38h2-l1 C1GALT1-specific chaperone 1|C1Gal-T2|C38H2-like protein 1|beta 1,3-galactosyltransferase 2|core 1 beta1,3-galactosyltransferase 2|core 1 beta3-Gal-T2|core 1 beta3-galactosyltransferase-specific molecular chaperone protein-coding 1353224 C1HR C1AGOH temperature sensitivity complementing 709 1315493 C1QA complement component 1, q subcomponent, A chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq] 1600549,1580863 20496011,19423540,19440201,19484134,19493541,19656971,19896716,20139276,20237496,20332777,20406964,20438785,20528885,20560256,9461517,18029348,814163,1249422,18927313,18505047,18504288,18406463,18174230,18054386,17929239,16710414,16566583,16465510,16335952,16046396,15878871,15489334,15231748,15034050,12960167,12847249,12645945,12630757,12477932,11714829,10878362,10528211,9777412,9476117,9225968,9184145,9013976,8840296,8778019,8417122,8195709,8172568,7939135,6981411,6981115,2372546,1706597,1537612,1431141,486087,7240,7739575,9780209,9444979,9223728,9052718,1744579,9443108,1875953,12396016,7642209,7507842,11318594,10504397,8252810,8245486,10490997,20008834,19913121,20628086,17207965 1600549 712 NM_015991,NG_007282,AL158086,AY789471,CH471134,AF135157,AF260332,AK311980,BC030153,BC071986,BG548439,BX369252,CR591547,CR610701,CR619283,CR623532,CR626789 ACT64581,NP_057075,CAI22892,CAI22893,AAV40828,EAW95014,EAW95015,AAD32626,AAG44663,BAG34919,AAH30153,AAH71986,P02745,Q9H2L7,ACE87827,ADQ32158 Hs.632379 OTTHUMP00000037919|OTTHUMP00000197085|complement C1q subcomponent subunit A|complement component 1, q subcomponent, alpha polypeptide|complement component C1q, A chain protein-coding 1346671 C1QB complement component 1, q subcomponent, B chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq] 1599518,1599508,1599509,1599510,1580863 1706597,814163,1249422,19344414,18505047,18174230,17513176,16710414,16566583,15709773,15489334,15034050,12960167,12847249,12645945,12477932,10882776,10471215,9777412,9444979,9184145,7939135,6981411,6208566,3180845,3000358,2894352,1537612,1370572,708376,486087,7739575,9780209,1744579,9443108,1875953,12396016,7642209,7507842,11318594,10504397,8252810,8245486,16289162,19423540,19493541,20139276,20237496,20379614,20406964,20438785,20528885 1599518,1599508,1599509,1599510 713 NM_000491,NG_007283,AL158086,CH471134,K03430,L80036,BC008983,BQ711602,CR595684,CR603615,M36278,X03084 NP_000482,CAI22895,CAI22896,EAW95019,EAW95020,EAW95021,AAQ67338,AAH08983,AAC41692,CAA26880,P02746,Q5T960,Q6LDZ7,ABM82457,ABM85646 Hs.8986 OTTHUMP00000002940|OTTHUMP00000002941|OTTHUMP00000217779|complement C1q subcomponent subunit B|complement component 1, q subcomponent, beta polypeptide|complement component C1q, B chain|complement subcomponent C1q chain B protein-coding 1342690 C1QBP complement component 1, q subcomponent binding protein The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq] 1580863 11290596,17881511,19190731,19423540,19473882,19565630,19710015,19828637,20100866,20406964,20438785,14667819,15231747,8195709,19164550,19004836,18757437,18676636,18538737,18460468,18358546,17907801,17892212,16893067,16871385,16713569,16641292,16455055,16177118,16164755,16140380,16039650,15489334,15467913,15324660,15243141,15163734,15031724,14583623,12833064,12574814,12538033,12477932,12443542,12220632,11870091,11866440,11773076,11549288,11350968,11278463,10831594,10823864,10747014,10097078,10022843,9721222,9284938,8626563,8567680,8262387,8189522,7778269,2372546,1830244,16537587,19913121,20628086,20877624 708 AC004148,AF338439,CH471108,DQ372108,AF275902,AJ297362,AK291516,BC000435,BC013731,BT019898,BT019899,CR590289,CR591839,CR591881,CR592467,CR604243,CR607361,CR608216,CR609525,CR610424,CR613532,CR614702,CR617810,CR618057,CR620668,L04636,NM_001212,X75913 NP_001203,AAK26580,EAW90335,EAW90336,EAW90337,ABC79624,AAF78763,CAB95947,BAF84205,AAH00435,AAH13731,AAV38701,AAV38702,AAA16315,CAA53512,Q07021,Q9NQ45,ABM82257,ABM84292,ABM85440,ABM87682 Hs.555866 GC1QBP|HABP1|SF2p32|gC1Q-R|gC1qR|p32 C1q globular domain-binding protein|complement component 1 Q subcomponent-binding protein, mitochondrial|glycoprotein gC1qBP|hyaluronan-binding protein 1|mitochondrial matrix protein p32|p33|splicing factor SF2-associated protein protein-coding 1347949 C1QBPP complement component 1, q subcomponent binding protein, pseudogene 10830953 54098 NG_000929,AP000568 pseudo 1315664 C1QC complement component 1, q subcomponent, C chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] 1580863 1249422,9777412,19493541,19344414,19115936,18838169,18703056,18505047,18504288,18174230,16710414,16566583,16381901,16344560,15489336,15489334,15034050,14702039,12960167,12847249,12645945,12477932,11076863,8630118,7939135,3180845,1706597,486087,7739575,1744579,9443108,1875953,12396016,7642209,7590886,7507842,11318594,10504397,8252810,8245486,10961870,18029348,814163,20833838,19710097,19913121,20628086,15353007,19423540,19790049,20139276,20237496,20406964,20438785,20528885 714 NM_001114101,NM_172369,NG_007565,AL158086,CH471134,AF087892,AK057792,AK130613,AK226152,BC009016,BG060138,CB995661,CR597625,CR600681,CR604785,CR609138,CR613096,CR615645,CR617126,CR617498,CR625581,CR626158,DA849505 NP_001107573,NP_758957,CAI22894,EAW95016,EAW95017,EAW95018,AAP97191,BAB71575,AAH09016,P02747,CAL37759,CAL38110,CAL38396 Hs.467753 C1Q-C|C1QG|FLJ27103 complement C1q subcomponent subunit C|complement component 1, q subcomponent, gamma polypeptide protein-coding 1314427 C1QL1 complement component 1, q subcomponent-like 1 1580863 9878755,19275900,15489334,12477932,20237496 10882 NM_006688,AC015936,AF410771,CH471178,AF095154,BC008798 NP_006679,AAK95248,EAW51563,AAC64186,AAH08798,O75973 Hs.134012 C1QRF|C1QTNF14|CRF C1q-related factor protein-coding 1350440 C1QL2 complement component 1, q subcomponent-like 2 1580863 18783346,12477932,20237496 165257 AC016673,CH471103,CS057609,AF525315,BC043189,BC067896,BC142965,CR591276,CR622997,NM_182528 EAW95208,CAI77590,AAP80787,Q7Z5L3,NP_872334 Hs.433493 C1QTNF10|CTRP10 C1q and tumor necrosis factor related protein 10|C1q-domain containing protein|complement C1q-like protein 2|gliacolin-like protein-coding 1322092 C1QL3 complement component 1, q subcomponent-like 3 15164054,14702039,10862616,12477932 389941 NM_001010908,AL353576,AL360230,CH471072,CS019532,AK094686,BC127716,BC127717 NP_001010908,CAH72610,CAH73145,EAW86225,CAI58841,AAI27717,AAI27718,Q5VWW1,AAI60038 Hs.676792,Hs.727706 C1QTNF13|C1ql|K100 complement C1q-like protein 3 protein-coding 1604955 C1QL4 complement component 1, q subcomponent-like 4 15489334,12477932 338761 NM_001008223,AC125611,AX925776,CH471111,AF466366,BC110812,CR600274 NP_001008224,CAF02403,EAW58065,AAO33387,AAI10813,Q86Z23 Hs.380386 C1QTNF11|MGC131708 complement C1q-like protein 4 protein-coding 1350694 C1QTNF1 C1q and tumor necrosis factor related protein 1 1580863 18842294,18783346,18171693,16806199,16303743,15489334,14702039,12975309,12477932,12409230,16189514,16713569 114897 NM_030968,NM_198594,NM_198593,AC073624,CH471099,CQ764845,CQ783254,AF232905,AF329840,AJ272138,AK055541,AK075175,AK172767,AK292034,AY358424,BC021553,CD250839,CR612304 NP_112230,NP_940996,NP_940995,EAW89557,EAW89558,CAF32794,CAF86457,AAG44303,AAK17964,CAC20425,BAB70947,BAC11451,BAD18750,BAF84723,AAQ88790,AAH21553,Q6ZMH6,Q9BXJ1,ABM83468,ABM86679 Hs.201398 CTRP1|FLJ90694|GIP|ZSIG37 G protein coupled receptor interacting protein|complement C1q tumor necrosis factor-related protein 1|g protein-coupled receptor-interacting protein protein-coding 1348725 C1QTNF2 C1q and tumor necrosis factor related protein 2 1580863 15489334,12975309,12477932 114898 NM_031908,AC091842,AC112191,AF329836,AY358839,BC011699,BC054506,CH471062 NP_114114,EAW61561,AAK17960,AAQ89198,AAH11699,AAH54506,Q9BXJ5,ABM84187,ABM87589 Hs.110062 CTRP2|zacrp2 complement C1q tumor necrosis factor-related protein 2|complement-c1q tumor necrosis factor-related protein 2 protein-coding 1312783 C1QTNF3 C1q and tumor necrosis factor related protein 3 20634891,18421280,17534697,17311679,16303743,14702039,14654242,12975309,12477932,11071891,20483475,20952387,20739398 114899 NM_181435,NM_030945,AC139783,CH471118,CS023766,CS051375,AF173888,AF326976,AF329837,AK075533,AK094895,AK127389,AK295968,AK315921,AY358388,BC016021,BC112925,BC120990,BX483406,BX640995,EU399231,EU399232 NP_852100,NP_112207,EAX10819,EAX10820,EAX10821,CAI59108,CAI72182,AAQ13635,AAK70344,AAK17961,BAC11676,BAG54499,BAG58744,BAH14292,AAQ88754,AAI12926,AAI20991,CAE45998,ABY86416,ABY86417,Q0VAN4,Q542Y2,Q59G48,Q9BXJ4 Hs.171929 C1ATNF3|CORS26|CTRP3|Corcs|Cors|Cors-26|FLJ37576 cartonectin|collagenous repeat-containing sequence of 26-kDa|complement C1q tumor necrosis factor-related protein 3|complement-c1q tumor necrosis factor-related protein 3|secretory protein CORS26 protein-coding 1322231 C1QTNF4 C1q and tumor necrosis factor related protein 4 16094384,15489334,12477932 114900 NM_031909,AC104942,CH471064,CS208003,AF329838,BI756346,CR614754,BC035628 NP_114115,EAW67893,CAJ44927,AAK17962,AAH35628,Q9BXJ3 Hs.662633 CTRP4|ZACRP4 complement C1q tumor necrosis factor-related protein 4|complement-c1q tumor necrosis factor-related protein 4 protein-coding 1318784 C1QTNF5 C1q and tumor necrosis factor related protein 5 A bicistronic transcript encodes the products of the membrane frizzled-related gene and the complement C1q tumor necrosis factor-related gene 5, located on chromosome 11. 1580863 18842294,17766366,17249553,16600989,16396496,16376663,16123441,15340161,14702039,12975309,12944416,12477932,9512423,20554618,15489334 114902 NM_015645,NG_009626,NG_012235,AP003396,CH471065,EF444994,AB055505,AF086482,AF329841,AJ862823,AK055132,AL110261,AY358383,BC029485,BC036675 NP_056460,EAW67481,EAW67482,ACA06014,CAH93522,CAB53702,AAQ88749,AAH29485,Q9BXJ0,AAK17965 Hs.632102 CTRP5|DKFZp586B0621|FLJ30570|LORD complement C1q tumor necrosis factor-related protein 5 protein-coding 1316024 C1QTNF6 C1q and tumor necrosis factor related protein 6 19073967,18978792,15489334,15461802,15340161,12975309,12477932,8889548,19430480,20203524,20410501 114904 NM_031910,NM_182486,CH471095,Z82188,AF329842,AK128125,AK226149,AK314060,AY358374,BC020551,BM678522,BM722009,BQ674594,BU147265,BU535692,BU542015,BU859813,CB961508,CR456451,CR606760,CR607090,CR608415,CR622807 CAK54732,ABM82401,ABM85589,NP_114116,NP_872292,EAW60145,EAW60146,CAI19597,AAK17966,BAC87283,BAG36766,AAQ88740,AAH20551,CAG30337,Q6ICB7,Q9BXI9,CAK54433 Hs.22011 CTRP6|ZACRP6 complement C1q tumor necrosis factor-related protein 6|complement-c1q tumor necrosis factor-related protein 6 protein-coding 1315898 C1QTNF7 C1q and tumor necrosis factor related protein 7 1580863 20585324,19344414,16344560,15489334,12477932 114905 NM_001135170,NM_001135171,NM_031911,AC007016,AC099550,CH471069,AF329839,AK314802,BC022187,BC024015,BE856929,BX647781,DB069980,DB290077 NP_001128643,NP_114117,EAW92731,AAK17963,BAG37330,AAH22187,AAH24015,Q9BXJ2,ACE87828,NP_001128642,ACT64539 Hs.153714 CTRP7|ZACRP7 OTTHUMP00000217620|OTTHUMP00000217621|complement C1q tumor necrosis factor-related protein 7|complement-c1q tumor necrosis factor-related protein 7 protein-coding 1345449 C1QTNF8 C1q and tumor necrosis factor related protein 8 12975309,19666007 390664 NM_207419,AC009041,AL031713,CH471112,AY358832,FJ422561 NP_997302,EAW85686,AAQ89191,ACJ46463,P60827,AAI56256,AAI57037 Hs.527853,Hs.723096 CTRP8|UNQ5829 C1q/TNF-related protein 8|complement C1q tumor necrosis factor-related protein 8 protein-coding 1602167 C1QTNF9 C1q and tumor necrosis factor related protein 9 12477932,17207965,18787108,12975309 338872 NM_178540,AL359736,CH471075,AY358145,BC040438,BI767787 ADQ33014,NP_848635,CAH72292,CAH72293,EAX08334,EAX08335,AAQ88512,AAH40438,P0C862 Hs.362854 AQL1|C1QTNF9A|CTRP9|MGC48915 OTTHUMP00000018125|complement C1q tumor necrosis factor-related protein 9|complement C1q tumor necrosis factor-related protein 9A protein-coding 1605504 C1QTNF9B C1q and tumor necrosis factor related protein 9B 17544811,12477932,19666007 387911 NM_001007537,AL445985,AX525130,BC110413,BC137004,BC137006,BC144450 NP_001007538,CAM20041,CAM20042,CAD57043,AAI10414,AAI37005,AAI37007,B2RNN3 CTRP9B|MGC117159|RP11-45B20.2 OTTHUMP00000018118|OTTHUMP00000018120|collagen triple helix repeat-containing|complement C1q tumor necrosis factor-related protein 9-like|complement C1q tumor necrosis factor-related protein 9B protein-coding 1319235 C1R complement component 1, r subcomponent 1600551,1580863 2834284,814163,1249422,17996945,16335952,15489334,14702039,12914573,12555245,12499050,12477932,12429092,11823416,11445589,11086101,9477945,9373149,9174342,8881771,8635594,8227070,8162045,8125298,6303394,3036070,3030286,3021205,2820791,2541966,1533159,737019,10878362,10092586,6282262,2372546,1370572,20970424,20592021,14718574,20008834,20178990,20796027 1600551 715 NM_001733,AB083037,AC094008,AC140077,AC154092,AC233309,CH471116,AK024951,AK094009,AK222481,AK222491,AK291313,AK298445,AK303750,BC035220,M14058,X04701 NP_001724,BAC19850,EAW88687,EAW88688,BAD96201,BAD96211,BAF84002,BAG60662,BAG64722,AAA51851,CAA28407,P00736,Q53HT9,Q53HU9,ACE87845,ACT64363,AAH35220 Hs.524224 complement C1r subcomponent|complement component 1 subcomponent r protein-coding 1346889 C1RL complement component 1, r subcomponent-like 16344560,19423540,20379614,20406964,20438785,19344414,15385675,15358180,14702039,12838346,12477932,9373149,8125298 51279 AC233309,DB113812,NM_016546,AC018653,AC094008,CH471116,AF178985,AK024084,AK222802,AK314299,BC062428,CR592485 NP_057630,EAW88685,EAW88686,AAF44349,BAB14819,BAD96522,AAH62428,Q6P672,Q9H804,Q9NZP8,AAI56781 Hs.631730 C1RL1|C1RLP|C1r-LP|CLSPa C1r-like protein|C1r-like serine protease analog protein|complement C1r subcomponent-like protein|complement C1r-like proteinase protein-coding 1605130 C1S complement component 1, s subcomponent This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq] 16335952,16169853,15489334,14702039,14674770,12788922,12645945,12477932,11390518,11337467,10878362,10775260,10630213,10092586,9973493,9882449,9856483,9794427,9477945,7779774,6604523,6362661,3756141,3521730,3500856,3007145,2834284,2831944,2553984,2537870,2459702,2372546,2141278,2007122,1854725,1533159,11527969,814163,1249422,19344414,18062908,16344560,20008834,19423540,20406964,20438785,20592021 716 NM_201442,NM_001734,NG_011694,AB009076,AC006512,CH471116,AK025309,AK126711,AK290295,AM886411,AU100335,BC056903,CD358820,DB257339,DB265957,J04080,M18767,HC250949,HC311138 NP_958850,NP_001725,BAA86864,EAW88689,EAW88690,BAF82984,AAH56903,AAA51852,AAA51853,P09871,CBJ05772,CBJ21224 Hs.458355 FLJ44757 C1 esterase|OTTHUMP00000197019|basic proline-rich peptide IB-1|complement C1s subcomponent|complement component 1 subcomponent s protein-coding 1603542 C1orf100 chromosome 1 open reading frame 100 16710414,15489334,12477932 200159 NM_001012970,AL645465,CH471148,BC054479 NP_001012988,CAI15029,CAI15030,EAW77100,EAW77101,Q5SVJ3 Hs.442703 RP11-518L10.1 hypothetical protein LOC200159 protein-coding 1604494 C1orf101 chromosome 1 open reading frame 101 16710414,15489334,12477932,20379614 257044 NM_173807,NM_001130957,AC099757,AL591594,CH471148,AK027205,AK303059,BC028392,BC032859,BX648685,DB462258,AK302609 NP_776168,NP_001124429,CAI14039,CAI14040,EAW77109,BAG64176,AAH32859,Q5SY80,ABM81932,ABW03376,BAH13761,CAI14038 Hs.459534 MGC33370|RP11-523K4.1 OTTHUMP00000037986|hypothetical protein LOC257044 protein-coding 1603986 C1orf103 chromosome 1 open reading frame 103 17207965,15383276,16710414,16189514,16169070,15489334,14702039,12477932,17455211 55791 NM_001006945,NM_018372,AL360270,CH471122,AK001826,AK002131,AL834466,AY190122,BC008115,BQ787643,BU192014,BU664417,CD686306,CR615710,CR620638 ADQ32762,NP_001006946,NP_060842,CAI17128,EAW56460,EAW56461,BAA91928,BAA92097,CAD39125,AAO43631,AAH08115,Q5T3J3 Hs.25245 FLJ11269|RIF1|RP11-96K19.1 receptor interacting factor 1|receptor-interacting factor 1 protein-coding 1603516 C1orf104 chromosome 1 open reading frame 104 16710414,15489334,14702039,12477932 284618 NM_001039517,AL139410,AK093295,AK125510,BC062571,BC080538,BC131614 NP_001034606,BAC04124,AAH62571,AAH80538,AAI31615,Q66K80 Hs.650801,Hs.724710 FLJ35976|RP11-21N7.3 hypothetical protein LOC284618 protein-coding 1603371 C1orf105 chromosome 1 open reading frame 105 17081983,16710414,15489334,12477932,20379614 92346 NM_139240,CH471067,Z97195,AL035295,BC038410 NP_640333,EAW90924,CAI19056,CAI19057,CAI19058,CAA22895,AAH38410,O95561,Q5R3C7,Q5R3C8 Hs.517991 RP1-106H8.1 hypothetical protein LOC92346 protein-coding 1601862 C1orf106 chromosome 1 open reading frame 106 16344560,15489334,14702039,12477932,19915572 55765 NM_018265,NM_001142569,AC099756,CH471067,AK001583,AK001763,AK025066,AK303885,AW467005,BC106877,DA721467,DC346620,AK316510 NP_060735,NP_001136041,EAW91323,BAA91771,BAA91892,BAG64821,AAI06878,Q3KP66,BAH14881 Hs.518997 FLJ10901|MGC125608 hypothetical protein LOC55765 protein-coding 1604367 C1orf107 chromosome 1 open reading frame 107 16710414,16322560,15489334,14702039,12477932,16189514,16344560 27042 NM_014388,AL022398,AL022728,CH471100,AK022766,AK096118,AK123674,AK289613,AK314061,BC022964,BX345520,BX648514,CR598885,CR749825,DA256510,AK295799 NP_055203,CAA18546,CAI95693,EAW93436,EAW93437,BAB14235,BAG53934,BAF82302,AAH22964,CAH56170,CAH18684,Q68CQ4,Q9H9J1,BAH12189 Hs.194754 DEF|DJ434O14.5|DKFZp686E19106|FLJ12704|FLJ41680|MGC29875 digestive organ expansion factor homolog|digestive-organ expansion factor homolog protein-coding 1606277 C1orf109 chromosome 1 open reading frame 109 15489334,14702039,12477932,17207965 54955 NM_017850,AC104336,CH471059,AK000515,AK092319,AK299377,AK316093,BC018109,BC063843 NP_060320,EAX07326,EAX07327,EAX07328,EAX07329,EAX07330,BAA91221,BAG61367,BAH14464,AAH18109,AAH63843,Q9NX04,ADQ31991 Hs.272673 FLJ20508 hypothetical protein LOC54955 protein-coding 1606402 C1orf110 chromosome 1 open reading frame 110 16710414,15489334,14702039,12477932,20664687,19536175 339512 NM_178550,AL392003,CH471067,AK123573,BC040018 NP_848645,CAI13459,CAI13460,EAW90726,BAC85648,Q5JSG0,Q86UF4 Hs.407631 FLJ41579|MGC48998|RP11-331H2.2 OTTHUMP00000032331|hypothetical protein LOC339512 protein-coding 1603514 C1orf111 chromosome 1 open reading frame 111 17207965,16189514,12477932 284680 NM_182581,AL512785,CH471067,AY248900,BC032957 ADQ32851,NP_872387,CAI15778,EAW90701,AAP20051,AAH32957,Q5T0L3 Hs.97784 HSD20|RP11-565P22.3 hypothetical protein LOC284680 protein-coding 1603990 C1orf112 chromosome 1 open reading frame 112 19064610,14702039,12477932,19536175,20379614 55732 AL021940,AL031297,CH471067,AK001568,AK023532,AK096493,AK127098,AK294569,AK299369,AK303296,AK310638,AL354614,BC011012,BC011445,BC062689,BC091516,BC107168,BC107169,NM_018186,CR626458 NP_060656,CAI19363,CAI23519,EAW90863,EAW90864,EAW90865,EAW90866,BAA91761,BAB14600,BAG53304,BAG54436,BAG57763,BAG61359,BAG64371,CAB89727,AAH91516,AAI07169,AAI07170,Q9NSG2,ACE87516,ACE86830 Hs.443551 FLJ10706|FLJ13470|MGC130018|MGC130019|RP1-97P20.1 hypothetical protein LOC55732 protein-coding 1605948 C1orf113 chromosome 1 open reading frame 113 17924679,16344560,15489334,15146197,14702039,12477932,10737800 79729 CN292095,DB034996,DC423360,R61532,NM_024676,NM_001162530,AL591845,CH471059,AK026591,AK056459,AK297015,AW194075,BC036763,BC048273,BC101676,BC101678,BE537168,BG003040,CN285484 A4FU49,NP_078952,NP_001156002,EAX07374,EAX07375,EAX07376,BAB15504,BAB71191,BAG59548,AAH36763,AAH48273,AAI01677,AAI01679,CAH71860 Hs.524496 FLJ22938 SH3 domain-containing protein C1orf113 protein-coding 1602471 C1orf114 chromosome 1 open reading frame 114 15231748,12477932,9373149,8125298,19536175 57821 NM_021179,AL021068,CH471067,AK098712,AK223354,AK313598,AL049687,BC008388,BC008389,BC026073,CR599271 NP_067002,CAA15927,CAI19784,CAI19785,EAW90840,EAW90841,BAD97074,BAG36364,CAB41258,AAH26073,Q5TID7 Hs.567557 FLJ25846|RP1-206D15.2 uncharacterized protein C1orf114 protein-coding 1605938 C1orf115 chromosome 1 open reading frame 115 16710414,16344560,15489334,14702039,12477932,8889548 79762 NM_024709,AL592406,CH471100,AI188887,AK024208,AK056749,AK091937,AK125403,BC036067,BU728891,CR598857,DA175175 NP_078985,CAH72461,EAW93296,EAW93297,BAB14851,BAG52445,AAH36067,Q9H7X2 Hs.519839 FLJ14146|RP11-322F10.4 hypothetical protein LOC79762 protein-coding 1604289 C1orf116 chromosome 1 open reading frame 116 16344560,16189514,15525603,14702039,12477932,9389513,18029348 79098 NM_001083924,NM_023938,AC098935,CH471100,AK093826,AK096741,AL832940,AY352640,BC000765,BC001943,BC002325,BC018959,BG150416,DA859157 NP_001077393,NP_076427,EAW93511,BAC04233,CAH56284,AAR11484,AAH00765,AAH01943,Q9BPY1,Q9BW04 Hs.32417 DKFZp666H2010|FLJ36507|MGC2742|MGC4309|SARG specifically androgen-regulated gene protein|specifically androgen-regulated protein protein-coding 1606463 C1orf122 chromosome 1 open reading frame 122 19578796,16710414,15489334,14702039,12477932 127687 BC102041,NM_001142726,NM_198446,AL929472,CH471059,AK127381,AY517499,BC016402,BC057819,BC107856,BC127187,BC127188,CR603534,CR611050,CV575592,CX788342 AAI02042,Q3MIC1,NP_940848,NP_001136198,CAH70085,EAX07315,BAC86950,AAS76640,AAH57819,AAI27188,AAI27189 Hs.532749 ALAESM|FLJ23476|FLJ45459 OTTHUMP00000004512|hypothetical protein LOC127687 protein-coding 1603028 C1orf123 chromosome 1 open reading frame 123 16710414,15489334,14702039,12477932,17207965,16169070 54987 AK092734,AK094371,BC010908,CR457246,CR596024,CR603422,CR623839,AL606760,CH471059,AK000587,NM_017887 AAH10908,CAG33527,Q9NWV4,NP_060357,CAI18911,CAI18912,EAX06749,EAX06750,EAX06751,EAX06752,BAA91272,ADQ33192 Hs.525391 FLJ20580|RP5-1024G6.3 hypothetical protein LOC54987 protein-coding 1605027 C1orf124 chromosome 1 open reading frame 124 11256614,16381901,15489336,15231748,14702039,12975309,12477932,11230166,11076863 83932 BM480135,NM_001010984,NM_032018,AL117352,CH471098,AK027317,AK027613,AL512744,AY358611,BC015740,BC068478 NP_001010984,NP_114407,CAB81621,CAI23096,CAI23097,CAI23098,EAW69956,EAW69957,EAW69958,BAB55037,BAB55232,CAC21670,AAQ88974,AAH15740,AAH68478,Q96KA0,Q9H040,CAL38277,CAL38338,CAL38506 Hs.554892 DDDL1880|DKFZp547N043|PRO4323|RP5-876B10.3|dJ876B10.3 zinc finger RAD18 domain-containing protein C1orf124 protein-coding 1605000 C1orf125 chromosome 1 open reading frame 125 19010793,14702039,12477932,19536175,20379614,19913121,20628086 126859 NM_144696,AL160286,AL451075,CH471067,AK057502,AK058167,AK093460,AK302972,AL833914,BC146823,BX647935 NP_653297,CAI15395,CAI15396,CAI12671,CAI12672,EAW91045,EAW91046,EAW91047,EAW91048,BAB71513,BAB71698,BAH13864,CAD38770,AAI46824,CAH10571,Q5T1B0,Q8NDG7 Hs.658505 DKFZp686H1423|FLJ25438|FLJ32940|RP11-215I23.2 OTTHUMP00000033197|OTTHUMP00000217214|hypothetical protein LOC126859 protein-coding 2304154 C1orf126 chromosome 1 open reading frame 126 16710414,14702039,12477932 200197 NR_027136,AL035405,CH471167,AK074283,AK124431,BC128126,BC128127 EAW51708,EAW51709,BAB85035,BAG54037,Q8TEB6 Hs.531424 FLJ23703|RP1-21O18.2 miscrna 1606706 C1orf127 chromosome 1 open reading frame 127 14702039,12477932,16344560 148345 AL358492,CH471130,AK094437,AK095152,BC126349,BC143794,BC143795,BC143797,CA438298,DA093849,DW009828,NM_001170754 CAH72679,EAW71666,EAW71667,BAC04355,AAI26350,AAI43795,AAI43796,AAI43798,Q8N9H9,NP_001164225 Hs.127026 FLJ37118|FLJ37833 OTTHUMP00000196215|hypothetical protein LOC148345 protein-coding 1603974 C1orf128 chromosome 1 open reading frame 128 16344560,16236267,12477932,16169070 57095 AL031295,CH471134,AF218024,AF221595,AF271784,AK296662,AK310330,AK313005,BC017208,DB104988,NM_020362 Q9GZP4,NP_065095,CAI23140,CAI23141,CAI23142,EAW95074,EAW95075,EAW95076,AAG17266,AAF91232,AAG44795,BAG59259,BAG35841,AAH17208,ABM82845,ABM86029 Hs.31819 HT014|RP5-886K2.4|TXNL1CL HT014|TXNL1 C-terminal like|chromosome 1 open reading frame 128 protein-coding 1602210 C1orf129 chromosome 1 open reading frame 129 16344560,12477932 80133 NM_025063,NM_001163629,AL031965,BX284613,CH471067,AK027203,BC113390,BC113392,DB096780,DB211602,DB230154,DV080473 NP_079339,NP_001157101,CAI20319,CAI19145,EAW90884,EAW90885,BAB15690,AAI13391,AAI13393,Q5TGP6,CAI19144,Q5RIB9 Hs.591489 FLJ23550 OTTHUMP00000038847|hypothetical protein LOC80133 protein-coding 1606072 C1orf130 chromosome 1 open reading frame 130 16710414,15489334,12477932,18650334 400746 NM_001010980,AL445686,CH471134,AK124519,BC050474,BC127785,BC147014,BC147015,CB961010 NP_001010980,CAI14681,EAW95136,AAI27786,AAI47015,AAI47016,Q5T1S8 Hs.200253 FLJ42528 myelin glycoprotein 11 protein-coding 1605298 C1orf131 chromosome 1 open reading frame 131 14702039,12975309,12477932 128061 NM_152379,AL137801,CH471098,AK055124,AK303359,AY358235,BC036800,BC053609,BC062353,CR603219,CX783674,AL834274 NP_689592,CAI21983,CAI21984,CAI21985,CAI21986,EAW69948,EAW69949,EAW69950,EAW69951,EAW69952,BAB70857,BAG64419,AAQ88602,AAH36800,AAH53609,AAH62353,Q5TBH9,Q6UXR7,Q8NDD1,CAD38949 Hs.726469 DKFZp547B1713 OTTHUMP00000036145|OTTHUMP00000036146|hypothetical protein LOC128061 protein-coding 1606866 C1orf132 chromosome 1 open reading frame 132 14702039 388732 XR_000522,XR_000619,AL356275,AK123177 CAI40193,Q5TGB9 Hs.671099 FLJ35650|MCP protein-coding 1602254 C1orf133 chromosome 1 open reading frame 133 19240061,12477932 574036 NR_024337,AL035414,BC066352,BC094794,BP422084 CAI22281,Q5TG53 Hs.446946 miscrna 1601974 C1orf135 chromosome 1 open reading frame 135 14702039,12477932,9373149 79000 NM_024037,AL020996,AL033528,CH471059,AK024326,AK223419,BC000209,GQ844687 NP_076942,CAM12868,EAX07863,BAB14886,BAD97139,AAH00209,Q9H7T9,ACV90488 Hs.725400 AIBP|FLJ14264|MGC2603 aurora A-binding protein protein-coding 1313739 C1orf14 chromosome 1 open reading frame 14 12477932,11318611 81626 BC144326,NM_030933,AF297023,AL450304,AL662837,CH471067,AA448460,AF288397,AF288398,BC026084,BC026086,BC050305,BC132764,HC006822,HC044501 ADR83382,NP_112195,AAG45336,CAI14874,CAI19276,EAW91139,EAW91140,EAW91141,EAW91142,EAW91143,AAG60616,AAG60617,AAH26084,AAH50305,AAI32765,Q9BZQ2,CBH19217,CBH30580 Hs.497034 C1orf14|GE36|MGC26911|MGC48296|SHCBP1L GE36|chromosome 1 open reading frame 14 protein-coding 1606070 C1orf141 chromosome 1 open reading frame 141 12477932 400757 HC006824,AL133320,NM_001013674,CH471059,BC047053,BC062728,BC090886 CBH19218,NP_001013696,CAI21782,CAI21783,CAI21784,EAX06503,AAH47053,AAH90886,Q5JVX6,Q5JVX7 Hs.666621 MGC48454 OTTHUMP00000011044|OTTHUMP00000011045|hypothetical protein LOC400757 protein-coding 1625840 C1orf143 chromosome 1 open reading frame 143 11181995 440714 CH471100 EAW93325 protein-coding 1607050 C1orf144 chromosome 1 open reading frame 144 17207965,12761501,12477932,14702039 26099 NM_015609,AL358794,CH471167,AB097042,AB097043,AB097044,AB097045,AB097046,AJ295987,AK297926,AK298576,AK308787,AK316205,AL050028,AL832937,NM_001114600,BC023988,BC065538,BX640985,CR593854,CR598986,CR602743,CR614958,CR615655,CR616707,CR619138,CR619226,CR619544,CR624498,CR626328,DB501645,BC010631,AK098272,CR601391,CR618643 ADQ33109,NP_001108072,NP_056424,CAH73775,EAW51777,BAC77395,BAC77396,BAC77397,BAC77398,BAC77399,CAC82500,BAG60243,BAG60768,BAH14576,CAB43245,AAH23988,AAH65538,Q7Z422,Q7Z423,Q7Z425 Hs.252967 DKFZp566C0424|MGC70432 OTTHUMP00000215504|OTTHUMP00000215505|putative MAPK activating protein PM20,PM21 protein-coding 1603476 C1orf146 chromosome 1 open reading frame 146 15496913,12477932 388649 NM_001012425,AL451010,CH471097,AA861282,BC130499,BC171742,BQ435566,BQ435801,BU567193,BU852979 NP_001012425,CAH70759,CAH70760,EAW73099,AAI30500,Q5VVC0,ADR82861 Hs.558823 RP11-163M2.4 OTTHUMP00000011942|hypothetical protein LOC388649 protein-coding 1601780 C1orf148 chromosome 1 open reading frame 148 14702039 574432 AK057440 Hs.568467 FLJ32878 protein-coding 1605281 C1orf150 chromosome 1 open reading frame 150 17207965,12477932 148823 NM_145278,AL606804,CH471148,AK123798,AK124520,AK126682,AK307081,AK307082,AK311994,BC024174 ADQ32207,NP_660321,CAI17148,CAI17149,EAW77193,BAC85873,BAG54358,BAG34932,AAH24174,Q5JQS6,Q6ZVI8 Hs.662658 FLJ41804|FLJ44728|RP11-978I15.8 OTTHUMP00000038413|OTTHUMP00000038414|putative uncharacterized protein C1orf150 protein-coding 1603802 C1orf151 chromosome 1 open reading frame 151 16710414,15489334,14702039,12477932,16344560,8889548,20877624 440574 NM_001032363,AL031727,CH471134,AK096240,BC009927,AK094318,BC070388,BG687187,AJ711911,CB852406,DA523181,DA793500,NR_033757,NR_033758 NP_001027535,CAI19017,EAW94893,AAH09927,AAH70388,Q5TGZ0,Q96G68 Hs.466662 FLJ36999|FLJ75158|RP5-1056L3.2 hypothetical protein LOC440574 protein-coding 1602136 C1orf152 chromosome 1 open reading frame 152 12477932,11948409 767846 NR_003242,AL592284,AF345651,BC137262 AAL83747,AAI37263 Hs.657186 COAS3 pseudo 1603373 C1orf156 chromosome 1 open reading frame 156 19064610,16710414,15489334,12477932,16169070,17207965,19536175 92342 NM_033418,AL021940,CH471067,AK313909,AL035369,AY744366,BC008679,CR450330,CR600232,CR602834,CR609500 NP_219486,CAI19361,CAI19362,EAW90861,EAW90862,BAG36632,CAA23019,AAU95377,AAH08679,CAG29326,O95568,Q5TI78,ADQ32334 Hs.33922 AsTP2|MGC9084|RP1-117P20.4 OTTHUMP00000033958|arsenic-transactivated protein 2|hypothetical protein MGC9084 protein-coding 1601805 C1orf157 chromosome 1 open reading frame 157 15489334,14702039,12477932 284573 AC096645,CH471067,AK097662,BC104010,BC104011,BC104012,NR_027902 EAW91498,BAC05136,AAI04011,AAI04012,AAI04013,Q3SY05 Hs.406979 FLJ40343|MGC120329|MGC120330|MGC120332 miscrna 1602191 C1orf158 chromosome 1 open reading frame 158 16710414,15489334,12477932,17207965 93190 NM_152290,AL513016,CH471130,AK026705,AK298760,BC029894,BX647383 NP_689503,CAH74177,CAH74178,EAW71746,BAG60902,AAH29894,Q8N1D5,ADQ31595 Hs.98095 DKFZp686C0236|MGC35194|RP11-474O21.4 hypothetical protein LOC93190 protein-coding 1606269 C1orf159 chromosome 1 open reading frame 159 16710414,16344560,15489334,14702039,12975309,12477932,8889548 54991 AK301998,AY358490,BC008788,BC028173,BE280321,BM974309,BU624412,BX394177,CR594538,CR603743,CR613599,CR619768,CR626098,DA066689,DB026989,AL390719,CH471183,AI270164,AK000591,AK024796,AK054793,AK057368,AK124054,AK128271,AK128434,NM_017891 CAQ52473,CAQ52474,CAI14317,BAG63402,AAQ88854,AAH08788,Q5T2W7,Q5T2W9,Q96HA4,NP_060361,CAI14315,CAI14316,CAI14318,EAW56288,EAW56289,EAW56290,EAW56291,BAA91276,BAG51908,BAC87438 Hs.235095 FLJ20584|FLJ21143|FLJ36119|RP11-465B22.4 OTTHUMP00000000807|OTTHUMP00000000809|OTTHUMP00000000897|OTTHUMP00000205753|hypothetical protein LOC54991 protein-coding 1602303 C1orf161 chromosome 1 open reading frame 161 14702039,12477932 126868 NM_152367,AL121982,CH471122,AK096035,BC128148,BC128149 NP_689580,CAI19381,EAW56642,EAW56643,BAC04682,AAI28149,AAI28150,Q8N8X9 Hs.376194 FLJ38716|RP5-1185H19.1 hypothetical protein LOC126868 protein-coding 1604535 C1orf162 chromosome 1 open reading frame 162 14702039,12477932 128346 NM_174896,AL390195,CH471122,AK123160,BC017973 NP_777556,CAI15629,CAI15630,EAW56497,EAW56498,AAH17973,Q8NEQ5,ABM82902,ABM86093 Hs.288010 MGC24133 transmembrane protein C1orf162 protein-coding 1606511 C1orf163 chromosome 1 open reading frame 163 15489334,14702039,12477932,9373149 65260 NM_023077,AC099784,CH471059,AK022501,AK023237,AK225041,AK225087,BC005992,BC015313 NP_075565,EAX06772,BAB14063,AAH15313,Q96BR5 Hs.349905 FLJ12439 hcp beta-lactamase-like protein C1orf163 protein-coding 1604177 C1orf167 chromosome 1 open reading frame 167 12477932,12370778,19913121,20628086,19729601,20416077 284498 XM_003118845,XM_003119773,XM_003120581,AL953897,AF398935,AL833920,AL833926,AL834308,BC031692,BC128091,BC128092 XP_003118893,XP_003119821,XP_003120629,CAI15881,CAI15882,CAI15883,CAD38776,CAD38782,CAD38978,AAH31692,AAI28092,AAI28093,Q05BY4,Q5SNV6,Q5SNV7,Q5SNV9,Q8NDG0 Hs.585415 DKFZp434E1410|DKFZp434F1313|RP11-56N19.2 OTTHUMP00000002264|OTTHUMP00000002265|OTTHUMP00000002266|hypothetical protein LOC284498 protein-coding 1604211 C1orf168 chromosome 1 open reading frame 168 14702039,8889548,16344560 199920 NM_001004303,AL035705,AL360295,AK093468,AK125198,AK310842,BU686304,BX648439,DA523424,DB193989 NP_001004303,CAI22671,CAH73130,BAC86080,CAH56148,Q5VWT5,ACE87195,ACE86516 Hs.437655 FLJ43208|RP4-758N20.2 hypothetical protein LOC199920 protein-coding 1606208 C1orf170 chromosome 1 open reading frame 170 12477932,8681137 84808 NR_027693,AL645608,AK123855,AK312221,BC006300,F22110 CAI15571,BAC85711,BAG35154,AAH06300,Q5SV97 Hs.271462 FLJ92510|MGC13275|RP11-54O7.8 miscrna 1602654 C1orf172 chromosome 1 open reading frame 172 14702039,12477932,16344560 126695 NM_152365,AL356390,CH471059,AK091952,BC033143,CR749558,AI216202,DA041083 NP_689578,CAI13559,EAX07779,BAC03775,AAH33143,CAH18355,Q68D65,Q8NAX2 Hs.188881 FLJ34633|RP11-344H11.3 hypothetical protein LOC126695 protein-coding 1603912 C1orf173 chromosome 1 open reading frame 173 20379614,12477932 127254 BI832067,R61866,NM_001002912,AC096950,BX470253,CH471059,AI028350,AK127470,AL833250,AL834414,BC035114,BC044605,BC073916,CR749349 NP_001002912,CAI16294,EAX06413,EAX06414,BAC86994,CAD39076,AAH73916,CAH18202,Q5RHP9 Hs.531182 DKFZp547I048|DKFZp761G1720|DKFZp781L0319|MGC90412|RP11-653A5.1 hypothetical protein LOC127254 protein-coding 1603248 C1orf174 chromosome 1 open reading frame 174 18029348,16169070,14702039,12477932 339448 NM_207356,AL691523,BX005110,CH471130,AK125092,AK289493,BC035643,BC047611,BC067302,CR612189 NP_997239,CAI17365,CAI17266,EAW71492,EAW71493,BAF82182,AAH35643,AAH67302,Q8IYL3 Hs.103939 RP13-531C17.2 hypothetical protein LOC339448 protein-coding 1605524 C1orf175 chromosome 1 open reading frame 175 20379614,8889548,14702039,12477932 374977 NM_001039464,NR_026782,AL139244,AL590093,AK093272,AK128221,AK130047,AK301894,AK302446,AK302703,AL042708,AL096749,AL117640,AL704849,AL832492,BC029191,BC095478,BC126126,BC143891,BC143892,BC144516,BM673384,DB457600 NP_001034553,CAI18991,BAC04116,BAC87334,BAC85285,BAG63325,BAH13712,BAG63928,CAH10722,AAH29191,AAI26127,AAI43892,Q68CQ1,Q69YY0 Hs.412482 DKFZp434K085|DKFZp686L2332|DKFZp781B0622|FLJ45063|FLJ46354 OTTHUMP00000205833|hypothetical protein LOC374977 protein-coding 1603553 C1orf177 chromosome 1 open reading frame 177 20379614,14702039,12477932 163747 NM_152607,NM_001110533,AC096536,CH471059,AK097520,BC039109,BC064142,BU633253 NP_689820,NP_001104003,EAX06665,EAX06666,BAC05087,AAH39109,AAH64142,Q3ZCV2 Hs.376018 FLJ40201 hypothetical protein LOC163747 protein-coding 1641969 C1orf180 chromosome 1 open reading frame 180 14702039,12477932 439927 NR_027379,AC114482,CH471097,AK092806,BC137361,BC137362,BC144607,BC171792 EAW73229,BAC03979,Q8NAE3 Hs.407054 FLJ35487|MGC168982|MGC168983 miscrna 1604756 C1orf182 chromosome 1 open reading frame 182 16710414,16189514,15489334,12477932,20139978,20829357 128229 NM_144627,AL589685,CH471121,AK311950,AY048672,AY048673,BC014605 NP_653228,CAI14171,EAW52964,EAW52965,EAW52966,AAL07513,AAL07514,AAH14605,Q96A04,ABM82179,ABM85365 Hs.534539 MGC26877|RP11-443G18.5|SSTK-IP SSTK-interacting protein|SSTK-interacting protein (SSTK-IP) protein-coding 1603392 C1orf183 chromosome 1 open reading frame 183 19047128,14702039,12477932,16344560,19851984,17207965 55924 NM_198926,NM_019099,AL049557,CH471122,AK055667,AK092074,AK094997,AK293989,AK295012,AL137198,AL137199,BC031558,DA306915 NP_945120,NP_061972,CAI22713,EAW56504,EAW56505,BAG51550,BAG57355,BAG58072,CAB69908,CAB69909,AAH31558,Q9NTI7,ADQ31659 Hs.193406 FLJ31105 hypothetical protein LOC55924 protein-coding 1601806 C1orf185 chromosome 1 open reading frame 185 21076409,16710414,14702039 284546 NM_001136508,AL162430,AK130995 NP_001129980,CAI13130,Q5T7R7 Hs.176177 FLJ27485 OTTHUMP00000009757|hypothetical protein LOC284546 protein-coding 1606860 C1orf186 chromosome 1 open reading frame 186 16710414,15489334,14702039,12477932 440712 NM_001007544,AX118901,BX571818,CH471067,AK122631,BC071785 NP_001007545,CAC38524,CAH73263,EAW91594,BAC85497,AAH71785,Q6ZWK4 Hs.662248 FLJ16052 hypothetical protein LOC440712 protein-coding 1605526 C1orf187 chromosome 1 open reading frame 187 18347602,19150847,19857465,16710414,16303743,15489334,15340161,14702039,12477932,12975309 374946 NM_198545,AL031731,AL953897,CH471130,AB301919,AK075558,AK092318,AK311439,AY358750,BC021286,BC111064,BM928129 NP_940947,CAI20222,CAI15884,EAW71700,EAW71701,BAG80561,BAC11697,BAG52531,AAQ89110,AAI11065,Q8NBI3 Hs.371716,Hs.632364 AGPA3119|FLJ34999|MGC117222|UNQ3119|neucrin dorsal repulsive axon guidance protein|draxin protein-coding 1606869 C1orf189 chromosome 1 open reading frame 189 12477932,16710414,15489334 388701 NM_001010979,AL590431,CH471121,BC127710,BC130509 NP_001010979,CAH71271,EAW53228,AAI27711,AAI30510,Q5VU69,ADR83452 Hs.104967 hypothetical protein LOC388701 protein-coding 1605156 C1orf190 chromosome 1 open reading frame 190 16710414,16189514,15489334,14702039,12477932,21048106 541468 NM_001013615,AL672043,CH471059,AK057892,BC034422,CR590915,CR612816,CR746264 NP_001013633,CAH72471,EAX06931,BAB71608,AAH34422,Q96LR2 Hs.568642 FLJ25163 hypothetical protein LOC541468 protein-coding 1604188 C1orf192 chromosome 1 open reading frame 192 257177 NM_001013625,AL592295,CH471121 NP_001013647,CAH70272,EAW52596,Q5VTH2 Hs.534593 hypothetical protein LOC257177 protein-coding 1626188 C1orf193 chromosome 1 open reading frame 193 100101443 NM_001099689,AL513523 NP_001093159,CAH71419 FLJ21919 protein-coding 1604538 C1orf194 chromosome 1 open reading frame 194 12477932,11329013 127003 AL138933,NM_001122961,AL356488,BC127905,BG196327,BG772797 CAI22276,NP_001116433,CAI22277,CAI22278,CAI22279,CAI19040,CAI19041,CAI19042,Q5T5A4,CAI19039 Hs.446962 hypothetical protein LOC127003 protein-coding 1604852 C1orf196 chromosome 1 open reading frame 196 780789 AL031273,Z99291 CAI22533,CAI20112,B1AJZ1 chromosome 1 open reading frame 196 protein-coding 1604859 C1orf197 chromosome 1 open reading frame 197 653311 XM_928433,AC092811 XP_933526 FLJ43126|PRO0650 protein-coding 1602995 C1orf198 chromosome 1 open reading frame 198 16710414,15489334,14702039,12665801,12477932,16344560 84886 NM_032800,AL118511,CH471098,AK027431,AK096166,AK131306,AK292433,AL713769,AL833809,BC004870,BC066649,CR594117,CR617064,DA333501,DA754292,NM_001136494,NM_001136495 NP_116189,CAC13161,EAW69923,EAW69924,EAW69925,EAW69926,EAW69927,BAB55105,BAG53223,BAD18472,BAF85122,AAH66649,Q6ZNA3,Q9H425,NP_001129966,NP_001129967 Hs.520494 DKFZp667D152|FLJ14525|FLJ16283|FLJ38847|MGC10710 hypothetical protein LOC84886 protein-coding 1348164 C1orf20 chromosome 1 open reading frame 20 11318611 116492 AF288396 Hs.693174 protein-coding 1626542 C1orf200 chromosome 1 open reading frame 200 14702039,12477932 644997 NR_027045,AL691449,CH471130,AK097325,BC016063,BC144613 CAI15698,EAW71628,BAC04998,Q5SR53 Hs.568595 miscrna 1604766 C1orf201 chromosome 1 open reading frame 201 14702039,12477932 90529 BC063891,CR591554,AL031431,CH471134,AK025957,AK299401,BC017650,BC034315,BC035061,BC040212,BC047705,NM_178122,BI917854,BM922375,NM_001199012,NM_001199013,NM_001199014 AAH47705,Q5TH77,AAH63891,Q5TH74,Q8NBE7,NP_835223,CAI21408,CAI21409,CAI21410,CAI21411,EAW95124,EAW95125,EAW95126,EAW95127,EAW95128,EAW95129,BAG61385,AAH17650,AAH35061,NP_001185941,NP_001185942,NP_001185943 Hs.403187 FLJ33340 OTTHUMP00000003335|hypothetical protein LOC90529 protein-coding 1603000 C1orf203 chromosome 1 open reading frame 203 12477932 84852 NR_024125,NR_024124,NR_024126,NR_027645,NR_027646,AL136376,AK309872,BC007373,BC018892,BC028281,BC069003,BC098428,BX389823,CR596297,DC351073,AK309389 CAI22203,Q5TC04 Hs.664752 C1orf203|MGC16179 miscrna 1601704 C1orf204 chromosome 1 open reading frame 204 14702039,15489334,15815621 284677 AL080176,NM_001134233,AL590560,AK096506,CR612954,CR625159 NP_001127705,CAH71105 Hs.647718 FLJ20442|FLJ39187 hypothetical protein LOC284677 protein-coding 1319257 C1orf21 chromosome 1 open reading frame 21 17207965,16710414,16341674,15489334,14702039,12477932,11318611,9110174,8619474 81563 NM_030806,AL078645,AL358152,AL445228,CH471067,AF035282,AF312864,AK056487,AK312062,AL699720,AY258286,BC028567,BF575955,BG823539,BM793961,BQ431539,BX648959,CD000222,CR601182,CR627007 ADQ32265,NP_110433,CAI17842,CAI17843,CAI22695,CAI22696,EAW91176,EAW91177,AAG45338,BAB71196,BAG34998,AAP82231,AAH28567,Q9H246 Hs.497159,Hs.726770 PIG13 chromosome 1 open reading frame 21|proliferation-inducing protein 13 protein-coding 1603568 C1orf210 chromosome 1 open reading frame 210 16341674,15489334,12477932,17207965 149466 NM_182517,AC093420,CH471059,BC041633,BM273035,BM784450,AL696898,NM_001164829 NP_872323,EAX07108,EAX07109,AAH41633,Q8IVY1,NP_001158301,ADQ32137 Hs.158963 MGC52423 putative uncharacterized protein C1orf210 protein-coding 1606189 C1orf212 chromosome 1 open reading frame 212 16303743,12477932,15342556 113444 NM_138428,AL122010,CH471059,CQ782810,AK074853,BC011880,BC034598,BC064320,BC073851,BC093838,BC107421,BC112231,BU601949,BX648912,AI467795,BG702416,BP234122,NM_001164824,NM_001164825 NP_612437,EAX07437,EAX07438,EAX07439,CAF86037,BAC11246,AAH11880,AAH34598,AAH73851,AAH93838,AAI07422,AAI12232,Q49AP7,Q96EX1,NP_001158296,NP_001158297 Hs.661594,Hs.27160 FLJ90372|MGC138436 hypothetical protein LOC113444 protein-coding 1605280 C1orf213 chromosome 1 open reading frame 213 12477932 148898 AL109936,CH471134,CQ782969,AK074989,BC007899,BC028411,BC054115,BC068594,BQ072309,BX098506,NR_033690,NR_033691 EAW95046,CAF86197,BAC11338,AAH28411,AAH54115,AAH68594,Q8NC38 Hs.61884 FLJ90508 miscrna 1602984 C1orf216 chromosome 1 open reading frame 216 16189514,14702039,12477932 127703 NM_152374,AL354864,CH471059,AK096303,AK096466,AK294352,BC026909,CR621322 NP_689587,EAX07403,EAX07404,BAC04755,BAC04799,BAG57619,AAH26909,Q8TAB5 Hs.112023 FLJ38984 OTTHUMP00000221719|hypothetical protein LOC127703 protein-coding 1601758 C1orf218 chromosome 1 open reading frame 218 14702039,12477932 54530 NM_019049,AL139136,AK000061,AK024832,AK091207,AL831839,BC074735 NP_061922,CAI15312,BAA90918,BAB15024,CAD38548,AAH74735,Q5TAI8,Q6B0I8,Q9H774,Q9NXU2 Hs.657779 DKFZp547O0715|FLJ20054 protein-coding 1602948 C1orf220 chromosome 1 open reading frame 220 14702039,12477932 400798 AL513013,CH471067,AK092849,BC136727,NR_033186 CAI23540,CAI23541,EAW91026,BAC03990,AAI36728,Q5T0J3 Hs.668085 DKFZp564J047|FLJ35530|FLJ40199 miscrna 1606656 C1orf222 chromosome 1 open reading frame 222 12477932 339457 AL109917,AL137547,BC114926,XM_003119800,XM_003119802 CAM12840,CAH10703,AAI14927,Q69YW0,XP_003119848,XP_003119850 Hs.259619 MGC133181 chromosome 1 open reading frame 222|hypothetical protein LOC339457 protein-coding 2298822 C1orf223 chromosome 1 open reading frame 223 12477932 374973 NM_001145474,AL593856,BC057818,BC067853,BC126318,BC144026,BC144027,FJ211596 NP_001138946,AAH57818,AAI26319,AAI44027,AAI44028,Q6PEX7,ACO25357 Hs.443299 THEG4 hypothetical protein LOC374973|testis highly expressed protein 4 protein-coding 1602957 C1orf224 chromosome 1 open reading frame 224 645634 XM_001714143,XM_002342033,XM_002347515,AL109627 XP_001714195,XP_002342074,XP_002347556,CAI22565,Q5TEV4 Hs.162595 C1orf224|FLJ33962|TMEM16M anoctamin 7-like 1|chromosome 1 open reading frame 224|transmembrane protein 16M protein-coding 2301261 C1orf226 chromosome 1 open reading frame 226 14702039,12477932,11181995 400793 NM_001135240,NM_001085375,AL512785,CH471067,AI480219,AK023199,AK125122,AK293907,BC127743,BC127744 NP_001128712,NP_001078844,EAW90702,BAG57292,AAI27744,AAI27745,A1L170 Hs.447011 FLJ13137|FLJ43132|FLJ55152 hypothetical protein LOC400793 protein-coding 1606701 C1orf227 chromosome 1 open reading frame 227 12477932,20379614 149643 NM_001024601,AC104333,CH471100,AY640234,BC035742 NP_001019772,EAW93375,AAU14247,AAH35742,Q537H7 Hs.153274 OTTHUMP00000212308|hypothetical protein LOC149643 protein-coding 1606401 C1orf228 chromosome 1 open reading frame 228 12477932 339541 NM_001145636,AL122004,CH471059,AY254217,BC026115,BX112141 NP_001139108,EAX07026,EAX07027,AAP80384,AAH26115,Q6PIY5 Hs.173679 MGC33556|NCRNA00082|p40 OTTHUMP00000212437|hypothetical protein LOC339541 protein-coding 1603331 C1orf229 chromosome 1 open reading frame 229 388759 NM_207401,AL390728,AK127619 NP_997284,BAC87060,Q6ZS94,AAI56416,AAI72473 Hs.456511 FLJ45717 putative uncharacterized protein C1orf229 protein-coding 2302530 C1orf230 chromosome 1 open reading frame 230 16710414,14702039,12477932,8889548 284485 NM_001144956,AL589765,CH471121,AA393535,CK300240 NP_001138428,EAW53418,A6NNX1,Q8N9Z1 Hs.297967 C1orf230|FLJ36032|NCRNA00166 OTTHUMP00000214004|RIIa domain-containing protein C1orf230|RIIa domain-containing protein ENSP00000357824 protein-coding 1317348 C1orf25 chromosome 1 open reading frame 25 This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene, but their full-length nature is not known. [provided by RefSeq] 17198746,16344560,15635413,14702039,12477932,11318611 81627 NM_030934,AL109865,AL136133,CH471067,CQ783798,AF163261,AF288399,AK027418,AK074936,AK074993,AK098359,AK131460,AK226103,AK312801,BC026883,BC035430,BC039738,BC045535,BC053961,DB093548,AK302166,NM_001202423,BU198525,DC398320 NP_112196,CAI17847,CAI17851,CAI17938,EAW91189,EAW91190,CAF86867,AAQ13590,AAG60618,BAC11302,BAC11341,BAD18605,BAG35660,AAH39738,AAH45535,Q7Z2T5,BAG63533,NP_001189352 Hs.107149 C1orf25|MGC25112|MGC57134|MST070|MSTP070|TRM1L|bG120K12.3 TRM1-like protein protein-coding 1318617 C1orf26 chromosome 1 open reading frame 26 19240061,16710414,15489334,14702039,12477932,11318611,9373149,8125298,19127978,20200978,20237496 54823 NM_017673,AL136133,AL356273,CH471067,AF288392,AK000128,AK093263,AK127980,AK225238,AK291443,AK315802,BC030781,BI756018,DB453411,DB518900,NM_001105518 NP_001098988,NP_060143,CAI17939,CAI17940,CAI22095,EAW91191,AAG60612,BAA90960,BAG52678,BAG54611,BAF84132,AAH30781,Q5T5J6,Q5TC96 Hs.134183 C1orf26|FLJ20121|FLJ35944|HsSwt1 hypothetical protein LOC54823 protein-coding 1346906 C1orf27 chromosome 1 open reading frame 27 16344560,18187418,15718105,12868032,12477932,11318611 54953 DB116803,NM_001164245,NM_001164246,NM_017847,AL596220,CH471067,AF214011,AK000171,AK000512,AK026086,AK298107,AY854248,BC003397,CR598039,DQ323046,DQ529299 NP_001157717,NP_001157718,NP_060317,CAI13121,EAW91207,EAW91208,EAW91209,AAL56643,BAA91218,BAB15356,BAG60392,AAW30011,AAH03397,ABC50092,ABF71985,Q5SWX8 Hs.371210 FLJ20505|ODR4|TTG1|odr-4 LAG1-interacting protein|hODR-4|odorant response abnormal 4|protein odr-4 homolog|transactivated by transforming growth factor beta protein 1 protein-coding 1342892 C1orf30 chromosome 1 open reading frame 30 140784 1352912 C1orf31 chromosome 1 open reading frame 31 20877624,16710414,16381901,15489336,15489334,12477932,11076863 388753 NM_001012985,AL355472,CH471098,BC025793,BC035925,BC064905,BC116455,CR609197 NP_001013003,CAI22928,CAI22929,CAI22930,EAW69992,AAH25793,AAI16456,Q5JTJ3,CAL38197,CAL38653 Hs.23198 hypothetical protein LOC388753 protein-coding 1312112 C1orf35 chromosome 1 open reading frame 35 16710414,16189514,15635413,15489334,14702039,12545221,12477932 79169 NM_024319,AL136379,CH471098,AK123377,AK126087,AY137773,BC002843,BC062585,CR617695,CR622015 NP_077295,CAI23119,EAW69837,EAW69838,EAW69839,BAC85598,BAC86431,AAN15215,AAH02843,AAH62585,Q9BU76,ACE87734,ACE87052 Hs.726193 MGC4174|MMTAG2|hMMTAG2 multiple myeloma transforming 2|multiple myeloma tumor-associated protein 2 protein-coding 1353481 C1orf38 chromosome 1 open reading frame 38 9563507,19308812,16710414,16219472,15489334,14702039,12477932,12191572,20569072,19942713,20379614 9473 NM_001105556,NM_004848,NM_001039477,AL109927,CH471059,AA477142,AB035482,AB050854,AF044896,AF323721,AK094833,AK303090,AK303141,BC031655,BC081568,BC132692,BC133049,BG716895,BI908174,BM146655,CR604917,CR749321,DB548309 NP_001099026,NP_004839,NP_001034566,CAI21768,CAI21769,CAI21770,CAI21771,CAI21772,CAI21773,EAX07725,EAX07726,EAX07727,EAX07728,EAX07729,EAX07730,BAA96464,BAB33313,AAC16284,BAC04431,BAG64201,BAG64245,AAH31655,AAI32693,AAI33050,CAH18176,Q5TEJ8,Q8N1V6,ADR83502 Hs.10649 ICB-1|THEMIS2 basement membrane-induced|induced by contact to basement membrane 1 protein|protein ICB-1|protein THEMIS2|thymocyte-expressed molecule involved in selection protein 2 protein-coding 1603678 C1orf43 chromosome 1 open reading frame 43 18029348,16710414,16094384,15489334,12477932,11230159,11042152,17207965 25912 CR457131,CR590700,CR594201,CR597803,CR597953,CR598243,CR599474,CR601087,CR605126,CR605838,CR606320,CR606449,CR606555,CR606853,CR607212,CR608586,CR609329,CR610380,CR611597,CR613431,CR614553,CR615706,CR616404,CR617350,CR624910,CR626375,DB457727,DQ908899,DR007097,BC006514,BC008306,BC014391,BC088353,BU072807,NM_015449,NM_001098616,AL590431,CH471121,AF077036,AF109185,AF529365,AJ243663,AJ243664,AJ243665,AK290583,AL117463,BC000152,BC001377,NM_138740 CAG33412,ABI60896,Q09GN0,Q9BWL3,AAH06514,AAH08306,AAH14391,AAH88353,NP_620077,NP_056264,NP_001092086,CAH71272,CAH71273,CAH71274,CAH71275,CAH71276,CAH71277,EAW53221,EAW53222,EAW53223,EAW53224,EAW53225,EAW53226,EAW53227,AAD27769,AAQ13494,AAQ09599,CAB65094,CAB65095,CAB65096,BAF83272,CAB55939,AAH00152,AAH01377,ADQ31620 Hs.287471 DKFZp586G1722|HSPC012|MGC111001|NICE-3|NS5ATP4|S863-3 HCV NS5A-transactivated protein 4|OTTHUMP00000034199|OTTHUMP00000034201|OTTHUMP00000034202|hepatitis C virus NS5A-transactivated protein 4|hypothetical protein LOC25912 protein-coding 1348895 C1orf46 chromosome 1 open reading frame 46 9344646 388699 AF005082 AAB83962,O14635 Hs.516420 xp33 protein-coding 1348676 C1orf49 chromosome 1 open reading frame 49 11256614,17077512,16710414,16381901,15489336,15489334,14702039,12477932,11230166,11076863 84066 NM_032126,AL513013,CH471067,AK093269,AL136694,BC034972,AL552172,AW340027,AW628627,BE041517,BI461686,BI825610,NM_001170722,NM_001170723,NM_001170724 NP_115502,CAI23534,CAI23535,CAI23536,CAI23537,CAI23538,CAI23539,EAW91023,EAW91024,EAW91025,BAC04115,CAB66629,AAH34972,Q5T0J7,Q5T0J8,CAL37752,CAL38540,NP_001164193,NP_001164194,NP_001164195 Hs.534501 DKFZp564J047|FLJ40199|MGC26863|RP5-990P15.1 hypothetical protein LOC84066 protein-coding 1349502 C1orf5 chromosome 1 open reading frame 5 10759 1350429 C1orf50 chromosome 1 open reading frame 50 737633 16344560,15489334,12477932 737633 79078 BC001508,BC001711,BE464824,DA684965,AC098484,CH471059,NM_024097 AAH01508,AAH01711,Q9BV19,NP_077002,EAX07138,EAX07139,EAX07140,EAX07141 Hs.148845 MGC955 hypothetical protein LOC79078 protein-coding 1347816 C1orf51 chromosome 1 open reading frame 51 737633 16710414,15489334,14702039,12477932,17207965 737633 148523 AK056960,AK098755,AK315397,BC017397,BC027999,BC047238,NM_144697,AL138795,CH471121 ACT64534,ACT64535,EAW53563,EAW53564,BAB71326,BAC05404,BAG37790,AAH17397,AAH27999,AAH47238,Q5TB12,Q5TB13,Q5TB14,Q8N365,Q8WVX4,NP_653298,CAI22816,CAI22817,CAI22818,CAI22819,EAW53560,EAW53561,EAW53562,ADQ31740 Hs.54680 FLJ25889 OTTHUMP00000014536|OTTHUMP00000014537|OTTHUMP00000014538|OTTHUMP00000014539|hypothetical protein LOC148523 protein-coding 1346419 C1orf52 chromosome 1 open reading frame 52 737633 17081983,16710414,16344560,15592455,15489334,12477932,11891061,19773279 737633 148423 NR_024113,AL590113,CH471097,AF387611,AF387612,AK126929,AY486331,AY486332,BC029538,BX118798,DA214065,NM_198077 NP_932343,CAH71555,CAH71556,EAW73209,AAL91352,AAL91353,BAG54401,AAS57906,AAS57907,AAH29538,Q8N6N3 Hs.26226 FLJ44982|RP11-234D19.1|gm117 hypothetical protein LOC148423 protein-coding 1606868 C1orf53 chromosome 1 open reading frame 53 16710414,15897902,15489334,12477932 388722 NM_001024594,AL590115,CH471067,BC038214,BC130608,BC130634 NP_001019765,CAH71758,CAH71759,EAW91286,AAI30609,AAI30635,Q5VUE5,ADR82820 Hs.61329 OTTHUMP00000033685|hypothetical protein LOC388722 protein-coding 1606237 C1orf54 chromosome 1 open reading frame 54 16710414,16381901,15489336,15489334,14702039,12477932,11076863 79630 NM_024579,AL138795,CH471121,AK026874,BC017761,AI004135,AI342055 NP_078855,CAI22814,CAI22815,EAW53568,EAW53569,BAB15579,AAH17761,Q8WWF1,CAL37698,CAL37836,CAL37944,CAL38127,CAL38340,CAL38425,CAL38495,CAL38528,CAL38617 Hs.91283 FLJ23221 OTTHUMP00000014532|hypothetical protein LOC79630 protein-coding 1603354 C1orf55 chromosome 1 open reading frame 55 14702039,12477932,16712791,17643375 163859 NM_152608,AL133288,CH471098,AK092701,AK127780,AK291008,AK308441,BC016290,BC071563,BX648319,CB140971,CR599350 NP_689821,CAI22305,CAI22306,EAW69768,EAW69769,BAC03952,BAC87130,BAF83697,AAH71563,Q6IQ49 Hs.520192 FLJ35382|RP4-671D7.1|dJ671D7.1 OTTHUMP00000035612|hypothetical protein LOC163859 protein-coding 1603033 C1orf56 chromosome 1 open reading frame 56 12975309,12477932 54964 NM_017860,AL590133,CH471121,AK000526,AK315680,AY358436,BC002469,CR598699 Q9BUN1,NP_060330,CAI13348,EAW53481,EAW53482,BAA91231,BAG38045,AAQ88802,AAH02469 Hs.549171 FLJ20519|RP11-316M1.9 hypothetical protein LOC54964 protein-coding 1604264 C1orf57 chromosome 1 open reading frame 57 17291528,15489334,12477932,17643375,19519914 84284 NM_032324,AL122003,AL122004,CH471098,AF416713,AK311229,AK316591,BC005102,CR610348,CR612278,CR615057,CR620575 NP_115700,CAI22243,CAI22244,CAI22337,CAI22338,CAI22339,EAW69976,EAW69977,EAW69978,EAW69979,EAW69980,AAL16807,BAG38178,AAH05102,Q5TDE5,Q5TDE9,Q9BSD7 Hs.642715 C1orf57|FLJ11383|HCR-NTPase|MGC13186|RP4-659I19.2|RP4-678E16.2 NTPase|human cancer-related NTPase|nucleoside triphosphate phosphohydrolase|nucleoside-triphosphatase C1orf57 protein-coding 1606705 C1orf58 chromosome 1 open reading frame 58 18190528,17411337,14702039,12477932,11181995 148362 NM_144695,AL392172,CH471100,AB276123,AI243754,AI911339,AK056983,AK293974,AK304445,AK315930,BC113635,BC113637,BC143811 NP_653296,CAH73931,CAH73932,EAW93265,BAF56045,BAB71331,BAH11637,BAH14189,BAH14301,AAI13636,AAI13638,AAI43812,Q5VW32,Q5VW33 Hs.552608 Brox|C1orf58|FLJ32421|MGC142195|MGC142197|RP11-452F19.1 BRO1 domain containing protein|BRO1 domain-containing protein BROX|Bro1-domain-containing protein protein-coding 1602307 C1orf59 chromosome 1 open reading frame 59 17207965,15342556,14702039,12477932 113802 NM_144584,NM_001102592,AL160171,CH471122,AK055087,AK310152,AK311542,BC012198,BC088366,BP378034,CR621929,DB510959 ADQ32758,NP_653185,NP_001096062,CAI12929,CAI12930,EAW56324,EAW56325,EAW56326,BAB70852,AAH12198,AAH88366,Q5T8I9,CAI12931 Hs.7962 C1orf59|FLJ30525|HEN1|MGC111091|RP11-256E16.2 HEN1 methyltransferase homolog|OTTHUMP00000012825|OTTHUMP00000012826|hypothetical protein LOC113802 protein-coding 1607071 C1orf61 chromosome 1 open reading frame 61 14702039,12477932,10995546 10485 NM_006365,AL139130,CH471121,AK095622,AK095626,BC010558,BC016405,BC050448,BC050741,BC054045,BC059943,BC107686,BC128199,BC128200,BC141918,BC141919,U49857 NP_006356,CAI12172,CAI12173,CAI12176,EAW52956,BAC04592,AAH50448,AAH59943,AAA93029,Q13536,Q6PB34,Q86W69,Q8N964,AAI52850,AAI56769 Hs.380027 CROC4|FLJ38303|RP11-139I14.3 OTTHUMP00000029024|contingent replication of cDNA 4|protein CROC-4|transcriptional activator of the c fos promoter|transcriptional activator of the c-fos promoter protein-coding 1604964 C1orf62 chromosome 1 open reading frame 62 20379614,14702039,12477932 254268 NM_152763,AL449266,AK095517,AK293786,AK313772,AL832216,BC030647,BC150642,CH471122 CAI14357,NP_689976,CAI14354,CAI14356,BAC04565,BAG57199,BAG36510,AAH30647,AAI50643,Q5T1N1,Q5T1N2,ABM82553,ABM85744,EAW56338,EAW56333,EAW56334,EAW56335,EAW56336,EAW56337 Hs.372658 C1orf62|MGC26989|RP11-475E11.3 OTTHUMP00000013004|protein AKNAD1 protein-coding 1603978 C1orf63 chromosome 1 open reading frame 63 16189514,12477932,9373149,17207965,8125298 57035 NM_020317,NG_003255,AL031432,CH471134,AF247168,AF267856,AK027318,AK226012,AK292532,AK296798,AL576262,BC001892,BC041843,BC065040,BI756502,CR591414,CR598998 CAB37992,AAH65040,NP_064713,EAW95157,EAW95158,EAW95159,EAW95160,EAW95161,AAG44543,AAG44725,BAB55038,BAF85221,BAG59373,AAH01892,AAH41843,Q9BUV0,ADQ31734 Hs.259412 DJ465N24.2.1|NPD014|RP3-465N24.4 hypothetical protein LOC57035 protein-coding 1603359 C1orf64 chromosome 1 open reading frame 64 16710414,15489334,12477932 149563 NM_178840,AL355994,CH471167,AK127425,BC017946 NP_849162,CAI16132,EAW51759,BAG54501,AAH17946,Q8NEQ6 Hs.29190 MGC24047|RP11-5P18.4 putative uncharacterized protein C1orf64 protein-coding 1602974 C1orf65 chromosome 1 open reading frame 65 16710414,16189514,15489334,14702039,12477932 164127 NM_152610,AL590669,CH471100,AK093047,BC030026,BC031066,DB446947 NP_689823,CAI16672,EAW93256,BAC04033,AAH30026,AAH31066,Q8N715 Hs.192090 FLJ35728|RP11-76K24.1 hypothetical protein LOC164127 protein-coding 1603041 C1orf66 chromosome 1 open reading frame 66 12477932,10810093,310876,19204726 51093 NM_015997,NM_001142560,AL590666,CH471121,AF151800,AK000412,BC011382,BX094595,CR598294,CR608863,CR612635,CR619536 NP_057081,NP_001136032,CAI16342,CAI95323,EAW52915,EAW52916,EAW52917,EAW52918,AAD34037,AAH11382,Q96FB5,Q4VX71 Hs.512597 C1orf66|CGI-41 hypothetical protein LOC51093 protein-coding 1603881 C1orf67 chromosome 1 open reading frame 67 15146197,12477932 200095 NM_144989,AC093560,AL590547,CH471098,AI076810,BC017415,BC042869,BC119716,BC119717,CN257875 NP_659426,CAH73045,EAW69735,EAW69740,AAI19717,AAI19718,Q0VDD8 Hs.133977 MGC149665|MGC149666|MGC27277|MGC51214 protein-coding 1602382 C1orf68 chromosome 1 open reading frame 68 9344646,17562024,16710414,11698679,11181995,20200978 100129271 NM_001024679,AL353779,CH471121,AF005081,CU446285,CU457096 NP_001019850,CAI20975,EAW53369,AAB83961,Q5T750 Hs.601077 LEP7|XP32 OTTHUMP00000014332|skin-specific protein (xp32)|skin-specific protein 32 protein-coding 1606941 C1orf69 chromosome 1 open reading frame 69 19656490,16710414,15146197,14702039,20877624 200205 NM_001010867,AL359510,CH471098,AK022796,AK023911,AK303837,BI820993,CA425016,CN285775,CR615475,DN831582 NP_001010867,CAI15071,EAW69862,BAG64781,Q5T440 Hs.237017,Hs.636881 FLJ12734|FLJ13849 putative transferase C1orf69, mitochondrial protein-coding 1603247 C1orf70 chromosome 1 open reading frame 70 11181995,12477932 339453 NM_001114748,AL645728,CH471183,BC147018,BC147020,BF446167,BU929336,EG328560 NP_001108220,CAI22949,EAW56184,EAW56185,AAI47019,AAI47021,Q5SV17 Hs.668654 transmembrane protein C1orf70 protein-coding 1606946 C1orf71 chromosome 1 open reading frame 71 11256614,16381901,16344560,16189514,15489336,14702039,12477932,11230166,11076863,19864490 163882 NM_001139459,AL356583,AL591623,AL646019,CH471148,AK056563,AK074142,AK091739,AL834246,BC010228,NM_152609,BC036200,BX647629,DA461531,DA994539,AL591848,CR601354 NP_689822,NP_001132931,CAH70030,CAH70031,CAH70032,CAH73934,EAW77154,EAW77155,EAW77156,EAW77157,EAW77158,EAW77159,BAB71218,BAB84968,BAC03735,CAD38922,AAH10228,AAH36200,Q6PJW8,CAL37458,CAL38207 Hs.368353 C1orf71|FLJ32001|MGC18089|RP11-452J6.1 consortin protein-coding 1606707 C1orf74 chromosome 1 open reading frame 74 16710414,15489334,14702039,12477932 148304 NM_152485,AL022398,CH471100,AK057807,BC039719,CR598637,CR599983 NP_689698,CAI95691,EAW93440,BAB71584,AAH39719,Q96LT6 Hs.497642 FLJ25078 hypothetical protein LOC148304 protein-coding 1607051 C1orf77 chromosome 1 open reading frame 77 18029348,14667819,19254951,17081983,16710414,15498874,15489334,14702039,12477932,19858291,20688955 26097 NM_015607,AL162258,CH471121,AF261137,AF318362,AK095230,AK308713,AK309844,AL050260,AL512704,BC002733,BC059949,BC070027,BC108721,BC120961,BC120962,CR612307 NP_056422,CAI19678,CAI19679,CAI19680,CAI19681,EAW53290,EAW53291,EAW53292,EAW53293,EAW53294,EAW53295,AAG44673,AAL55869,CAB43362,CAC21650,AAH02733,AAH59949,AAH70027,AAI08722,AAI20962,AAI20963,Q5T7Y7,Q9Y3Y2 Hs.611057 DKFZp547E1010|FOP|MGC131924|MGC86949|RP1-178F15.2|SRAG|pp7704 Friend of PRMT1 protein|OTTHUMP00000035122|OTTHUMP00000035123|small arginine- and glycine-rich protein|small protein rich in arginine and glycine protein-coding 1601890 C1orf81 chromosome 1 open reading frame 81 647215 XM_930255,XM_930256,XM_940946,AC099756,DQ983818 XP_935348,XP_935349,XP_946039 Hs.576503 protein-coding 1606976 C1orf83 chromosome 1 open reading frame 83 14702039,12477932,20379614 127428 NM_153035,AL353898,CH471059,AK056674,AK096488,AL049253,BC035374,CR592771 NP_694580,CAI22668,CAI22669,EAX06703,BAB71250,BAC04803,AAH35374,Q96MN5,ABZ92131 Hs.558618 C1orf83|FLJ32112|FLJ39169|RP4-758J24.3 OTTHUMP00000010128|hypothetical protein LOC127428|transcription elongation factor A (SII) N-terminal and central domain containing 2 protein-coding 1603567 C1orf84 chromosome 1 open reading frame 84 15028280,14702039,12477932,10737800 149469 NM_001012961,AL139289,AL583862,AK091821,BC017576,BC051343,BF926328,BF927604,BU101724 NP_001012979,CAI23383,CAI23384,BAC03755,AAH17576 Hs.711213 FLJ34502|RP11-506B15.1|SZT2A OTTHUMP00000008577|OTTHUMP00000205510|hypothetical protein LOC149469|seizure threshold 2 homolog A protein-coding 1602078 C1orf85 chromosome 1 open reading frame 85 12477932,19556463,18021396,16303743,12975309,20139978 112770 AL589685,CH471121,CS051139,CS072256,AK075349,AK296157,AY358450,BC011575,BC018757,BC036340,CR590480,CR591234,CR592268,CR595391,CR596478,CR597089,CR597258,NM_144580,CR597923,CR600472,CR600990,CR604091,CR606079,CR607336,CR608841,CR609055,CR613020,CR613276,CR615363,CR618333,CR624009,CR625752,CR625843,CR625850,CR626023 NP_653181,CAI14164,CAI14165,EAW52968,EAW52969,CAI72065,CAI93394,BAC11561,BAG58896,AAQ88815,AAH11575,AAH18757,AAH36340,Q8WWB7 Hs.202522 MGC31963|NCU-G1|RP11-443G18.2 kidney predominant protein NCU-G1|lysosomal protein NCU-G1 protein-coding 1604208 C1orf86 chromosome 1 open reading frame 86 8889548,16344560,14702039,12477932,12136098,11181995 199990 BM674927,NM_001146310,AJ327662,AL590822,CH471183,AF461903,AF469129,AK055593,AK126870,AK127994,BC041041,BC066360,BC078145,BC103992,NM_182533,BU542153,BU626113,CR601891,DA596011 NP_001139782,NP_872339,EAW56125,EAW56126,EAW56127,EAW56128,EAW56129,AAQ04817,AAP97719,BAB70965,BAC86730,BAC87220,AAH66360,AAI03993,Q6NZ36,Q6ZRT9,Q7Z4P6 Hs.720792,Hs.727608,Hs.107101 FLJ31031|FP7162|MGC120153|RP11-181G12.3 OTTHUMP00000039102|OTTHUMP00000196441|OTTHUMP00000196443|OTTHUMP00000196444|hypothetical protein LOC199990 protein-coding 1602983 C1orf87 chromosome 1 open reading frame 87 12477932 127795 CD707889,NM_152377,AC097066,CH471059,AK124828,AK126061,BC027878,BC042203 NP_689590,EAX06609,EAX06610,BAG54102,BAC86420,AAH27878,AAH42203,Q8N0U7 Hs.47385 FLJ44073|MGC34837 hypothetical protein LOC127795 protein-coding 1604536 C1orf88 chromosome 1 open reading frame 88 12477932,8889549,8889548,20643351 128344 NM_181643,AL356387,CH471122,AA021608,AI198934,AK074433,AK303897,AK310801,BC029237,BC050319,BC068603,BC093891,BC101501,BU686257,CR609935,CR626500,HM237139,HM237140 NP_857594,CAI19259,CAI19260,EAW56489,BAB85081,BAG64829,AAH29237,AAH50319,AAH93891,AAI01502,Q8TCI5,ADI86276,ADI86277 Hs.172510 FLJ23853|MGC126550|PIFO|RP5-1125M8.4 hypothetical protein LOC128344|pitchfork protein-coding 1603381 C1orf89 chromosome 1 open reading frame 89 16189514,12477932,17207965,15342556 79363 NM_030907,AL109627,CH471167,BC002946,BC008702,CR594894,AI744915,AL559024,BP214716 NP_112169,CAI22562,EAW51773,AAH02946,AAH08702,Q9BU20,ADQ31905 Hs.546430 MGC10731|RP4-733M16.4 miro domain-containing protein C1orf89 protein-coding 1347236 C1orf9 chromosome 1 open reading frame 9 12477932,16344560,11158380,10673381 51430 BC144487,AF310280,AF310281,AF310282,AF310283,AF310284,AF310285,AF310286,AF310287,AF310288,AF310289,AF310290,AF310291,AF310292,AF310293,AF310294,AF310295,AF310296,AF310297,AF310298,AF310299,AF310300,AF310301,AF310302,AF310303,AF310304,AF310305,AF310306,AF310307,AF310308,AF310309,AF310310,AF310311,AF310312,AF310313,AF310314,AF310315,AF310316,AF310317,AF310318,AF310319,AF310320,AF310321,AF310322,AF310323,AF310324,AF310325,NM_014283,AF310265,AF310266,AF310267,AF310268,AF310269,AF310270,AF310271,AF310272,AF310273,AF310274,AF310275,AF310276,AF310277,AF310278,AF310279,NM_016227,CH471067,Z94054,Z96050,AF097535,AJ250075,AK302509,AK302949,AL035291,BC137125,CR603786,DB093941 AAK28757,AAK28758,AAK28759,AAK28760,AAK28761,AAK28762,AAK28763,AAK28764,AAK28765,AAK28766,AAK28767,AAK28768,AAK28769,AAK28770,AAK28771,AAK28772,AAK28773,AAK28774,AAK28775,AAK28776,AAK28777,AAK28778,AAK28779,AAK28780,AAK28781,AAK28782,AAK28783,AAK28784,AAK28785,AAK28786,AAK28787,AAK28788,AAK28789,AAK28790,AAK28791,AAK28792,AAK28793,AAK28794,AAK28795,AAK28796,AAK28797,AAK28798,AAK28799,AAK28800,AAK28801,AAK28802,AAK28756,NP_057311,NP_055098,AAK28742,AAK28743,AAK28744,AAK28745,AAK28746,AAK28747,AAK28748,AAK28749,AAK28750,AAK28751,AAK28752,AAK28753,AAK28754,AAK28755,EAW90929,EAW90930,EAW90931,EAW90932,EAW90933,EAW90934,CAI19459,CAI19460,CAI19033,CAI19034,AAF04619,CAB57360,BAG63786,BAG64105,CAA22894,AAI37126,Q9UBS9 Hs.204559 CH1|OPT|SLP1 SUN-like protein 1|membrane protein CH1|protein C1orf9|protein osteopotentia homolog protein-coding 1606787 C1orf91 chromosome 1 open reading frame 91 12477932,12975309,17207965 56063 NM_019118,AL049795,CH471059,AF258548,AK075260,AK295232,AK312046,AL512700,AY358586,BC001256,BC004885,BC038842 NP_061991,CAI22059,CAI22060,CAM12880,EAX07556,EAX07557,EAX07558,EAX07559,EAX07560,AAG23751,BAC11504,BAG58225,BAG34982,AAQ88949,AAH04885,AAH38842,Q8WY98,ADQ32521 Hs.272299 AASL548|FLJ90779|PRO1105|RP4-622L5|RP4-622L5.3|dJ622L5.7 OTTHUMP00000035920|OTTHUMP00000190847|hypothetical protein LOC56063 protein-coding 1601719 C1orf92 chromosome 1 open reading frame 92 14702039,12477932,8889548 149499 NM_144702,AL356104,CH471121,AK057446,AK292342,BC033790,BU689904 NP_653303,CAH72938,EAW52895,EAW52896,EAW52897,EAW52898,BAB71490,BAF85031,AAH33790,Q8N4P6 Hs.491734 FLJ32884|FLJ77598|MGC45468|RP11-356J7.1 leucine-rich repeat-containing protein C10orf92 protein-coding 1603910 C1orf93 chromosome 1 open reading frame 93 18029348,14702039,12477932,16344560,8889548,14710190 127281 AK316243,AL139246,NM_152371,AL359575,CH471183,AF425266,AK057027,AK075273,AK094901,AK291908,AK298926,AK303504,AK308034,BC022547,CR749706,BI908668,BM976058,BQ709693,DA292832,DA495138,DC351872,DC407959,NM_001195736,NM_001195737,NM_001195738,NM_001195740,NM_001195741,NR_036637,NR_036638 BAH14614,CAX30825,CAX30826,CAX30827,NP_689584,EAW56083,EAW56084,EAW56085,EAW56086,EAW56087,EAW56088,AAP97295,BAG51845,BAC11511,BAF84597,BAG61031,BAG64537,AAH22547,Q8TBF2,NP_001182665,NP_001182666,NP_001182667,NP_001182669,NP_001182670 Hs.462033 DKFZp547M123|MGC26818|RP3-395M20.10 OTTHUMP00000000969|hypothetical protein LOC127281 protein-coding 1602848 C1orf94 chromosome 1 open reading frame 94 16713569,16344560,16189514,14702039,12477932,17207965 84970 NM_032884,NM_001134734,AC115286,CH471059,AA725646,AK123355,AW117410,BC007637,BC064845,DA714248,DB456109 NP_116273,NP_001128206,EAX07445,EAX07446,BAG53893,AAH07637,AAH64845,Q6P1W5,ADQ32171 Hs.194610 MGC15882 hypothetical protein LOC84970 protein-coding 1605215 C1orf95 chromosome 1 open reading frame 95 20379614,16710414,16381901,15489336,11230166,11076863,9110174,8619474 375057 NM_001003665,AL357122,AL359704,AF035308,AL137507,AL134612 NP_001003665,CAI17230,CAH70212,CAH10697,Q69YW2,CAL38625,AAI41660 Hs.116827,Hs.592751 DKFZp761P211|RP11-9C4.1 hypothetical protein LOC375057|spec3-like protein-coding 1602440 C1orf96 chromosome 1 open reading frame 96 14702039,12477932 126731 NM_145257,AL117350,CH471098,AK094615,AK123465,AK291437,BC015419,BC039241,BC060777,BC071609 NP_660300,CAI22868,CAI22869,EAW69897,BAC85619,BAF84126,AAH15419,AAH39241,AAH60777,AAH71609,Q6IQ19 Hs.725991 FLJ37296|FLJ41471|RP4-803J11.3 OTTHUMP00000035777|hypothetical protein LOC126731 protein-coding 1606485 C1orf97 chromosome 1 open reading frame 97 16710414,15489334,15342556,12477932,19773279 84791 NR_026761,AL590101,CH471100,AK130857,AK130858,BC005997,BP197632,BX382054,CR599004 EAW93415,EAW93416,Q9BRT7 Hs.523932 FLJ27347|FLJ27348|MGC14801|RP11-318L16.3 miscrna 1602788 C1orf98 chromosome 1 open reading frame 98 12477932,15489334,16710414 554279 BC040731,EU250749 A6NCI5 Hs.434694,Hs.575858 miscrna 1353499 C2 complement component 2 Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined. 1600582,1580863 20378180,19259132,19237749,19197355,19180512,19169232,19015224,18987644,18936151,18806297,18806293,18541650,18515590,18493315,18174230,18069935,17576744,17482263,16670774,16518403,16335952,15489334,14702039,12823772,12477932,19344414,11222683,19336475,10946292,10946278,10734221,10072631,9670930,9453398,9373149,8326124,8299689,8175701,8125298,8120386,6922702,6555044,6199794,6149575,3643061,3546307,3315100,2997031,2949737,2582254,2493504,2091785,1701385,1577763,1531292,1350302,1084023,978135,11341920,20801516,20888482,162484,8621452,6019133,12878586,15199963,19430225,19399715,20417301,19117936,19423540,19556007,19661236,19696172,19851445,19948975,20157618,20205591,20381870,20385819,20406964,20438785,20523265,19913121,20628086,20679960,21105107,20385826 1600582 717 AK298808,AK300892,AK300930,AK307930,AK312581,BC029781,BC043484,BX537504,CR620914,DC349268,DC362624,M26301,X04481,NG_004658,NM_001145903,NG_005163,NG_011730,NG_000013,AF019413,AL645922,AL662849,AL844853,AY074705,AY349611,BA000025,BX005143,CH471081,CR388219,CR759782,CR933857,L09708,M15082,M15549,M86920,X77331,AK096258,AK222537,AK222783,AK298311,NM_000063,N63977,NM_001178063 BAG60565,BAG60943,BAG62532,BAG62560,BAG35475,AAH29781,AAH43484,CAD97767,AAA35614,CAA28169,P06681,Q53GZ8,Q53HP3,Q5JP69,Q5ST52,Q6LBG4,Q6LDG4,Q7Z685,Q86SV5,Q8N6L6,Q95IG1,NP_000054,NP_001139375,AAB67975,CAQ09269,CAQ09270,CAQ09272,CAQ09273,CAI17449,CAI17451,CAI41857,CAI41858,AAM10002,AAQ15273,BAB63292,CAM25860,EAX03548,EAX03549,CAQ07481,CAQ07111,CAQ06833,AAB97607,AAA59624,AAA59649,AAA51854,CAA54545,BAG53241,BAD96257,BAD96503,NP_001171534 Hs.408903 CO2|DKFZp779M0311 C3/C5 convertase|OTTHUMP00000174695|OTTHUMP00000215942|OTTHUMP00000215945|complement C2|complement component C2 protein-coding 1315920 C20orf103 chromosome 20 open reading frame 103 15489334,12477932,11780052 24141 NM_012261,AL031652,CH471133,CS185536,AL121740,BC050727,BG707942,BI602543,CR612846,NM_001199897,GM048030,GM048061,GM675596,AK295336,AK316114 NP_036393,CAC18101,EAX10361,EAX10362,CAJ42717,CAB57330,AAH50727,Q9UJQ1,NP_001186826,CAT03711,CAT03723,CAV33173,BAG58309,BAH14485 Hs.22920 LAMP family protein C20orf103 protein-coding 1317211 C20orf106 chromosome 20 open reading frame 106 15489334,12477932,11780052,8889548 200232 BC070179,BC107704,AL109806,AL833715,BC029411,NM_001012971,BU738481,BX335293,CR624258 NP_001012989,CAI19289,AAH29411,AAI07705,Q5JX71 Hs.504907 MGC104272|dJ1153D9.3 hypothetical protein LOC200232 protein-coding 1342812 C20orf107 chromosome 20 open reading frame 107 15489334,12509440,12477932,11780052 388799 NM_001013646,AL109806,CH471077,BC014951,BC105792,CR593795 NP_001013668,CAI19291,EAW75534,EAW75535,Q5JX69,AAI05793 Hs.287759 MGC104273|dJ1153D9.4 hypothetical protein LOC388799 protein-coding 1322807 C20orf108 chromosome 20 open reading frame 108 19064572,16303743,15489334,12477932,11780052,8228263,20379614 116151 NM_080821,AL121914,CH471077,CS051463,AJ311123,AK075565,AK314768,AL133555,BC017725,DB500825,L17329 NP_543011,CAC12716,CAC29249,EAW75563,EAW75564,EAW75565,CAI72223,CAC67490,BAC11704,BAG37306,AAH17725,Q96KR6 Hs.143736,Hs.593629 5A3|DKFZp434A1114|dJ1167H4.1 transmembrane protein C20orf108 protein-coding 1349741 C20orf109 chromosome 20 open reading frame 109 140829 AL118499 dJ1168M15.1 hypothetical protein LOC140829 protein-coding 1346039 C20orf11 chromosome 20 open reading frame 11 19596235,17353931,15489334,14702039,12559565,12477932,12107413,11780052,17207965 54994 NM_017896,AL117379,AL121673,CH471077,AK000609,AK025775,AK299509,BC031819,BC032120,BQ931571,BQ935273,CD676269 NP_060366,CAC08553,EAW75318,EAW75319,BAA91285,BAG61462,AAH32120,Q9NWU2,ADQ32232 Hs.353013 TWA1 protein C20orf11|two hybrid associated protein 1|two hybrid-associated protein 1 with RanBPM protein-coding 1350756 C20orf111 chromosome 20 open reading frame 111 17148688,15489334,14702039,12477932,11780052,11042152,17207965 51526 AL035447,CH471077,AF151041,AF161517,AF217514,AK000476,AK315155,AL133000,BC064973,CR594780,CR606150,NM_016470,CR613090,CR615347,CR616484,CR626237 NP_057554,CAB38780,EAW75938,EAW75939,AAF36127,AAF29132,AAF67625,BAA91191,BAG37601,CAB61348,AAH64973,Q9NX31,ADQ32565 Hs.75798 HSPC207|Perit1|dJ1183I21.1 OTTHUMP00000031042|oxidative stress responsive 1|peroxide-inducible transcript 1 protein-coding 1348785 C20orf112 chromosome 20 open reading frame 112 15489334,15342556,15302935,14702039,12477932,11780052,8889548,17207965,20520637 140688 AL834520,BC038088,BC065370,BP365900,CK300322,CR621375,AL034550,AL133343,CH471077,AK056286,AK097804,AL122043,NM_080616 AAH65370,Q5JYB6,Q5JYC0,Q5JYC1,Q5JYC2,Q5W149,Q96MY1,ADQ32944,NP_542183,CAI42260,CAI42261,CAI42262,CAI42263,CAI42264,CAI42265,CAH73559,EAW76367,EAW76368,EAW76369,EAW76370,EAW76371,EAW76372,EAW76373,BAB71138 Hs.516978 C20orf113|DKFZp566G1424|dJ1184F4.2|dJ1184F4.4 hypothetical protein LOC140688 protein-coding 1346750 C20orf113 chromosome 20 open reading frame 113 170486 AL034550 1343435 C20orf114 chromosome 20 open reading frame 114 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq] 15489334,14702039,12975309,12874788,12477932,11971875,11780052,20237794,19212328,17207965 92747 AL121901,AL355392,NM_033197,CH471077,AF364078,AK127971,AK290243,AK310964,AK313176,AW449208,AY358595,BC008429,CD696225 CAI14743,NP_149974,CAI19398,EAW76326,AAM00283,BAC87212,BAF82932,BAG35993,AAQ88958,AAH08429,Q8TDL5,ADQ32773 Hs.65551 LPLUNC1|MGC14597 VEMSGP|long palate, lung and nasal epithelium carcinoma associated 1|long palate, lung and nasal epithelium carcinoma-associated protein 1|von Ebner minor salivary gland protein protein-coding 1350495 C20orf115 chromosome 20 open reading frame 115 402016 XM_377675 1352015 C20orf117 chromosome 20 open reading frame 117 15489334,15302935,14702039,14676191,12477932,11780052,10737800,10048485,20936779 140710 NM_199181,AL079335,AL132768,AL391602,CH471077,AB020696,AK022023,AK057056,AK094762,AK126630,AK131491,AL833153,AL935080,AW450158,BC113405,BC113433,BF944938,BM464536,BQ027014,NM_080627 NP_954650,CAI42289,CAI21460,CAI12788,EAW76094,EAW76095,EAW76096,EAW76097,EAW76098,EAW76099,EAW76100,BAA74912,BAB13954,BAC86621,BAG54771,AAI13406,AAI13434,O94964,Q6ZTG8,AAI48415,NP_542194 Hs.460807 FLJ44670|KIAA0889|dJ132F21.1 OTTHUMP00000178800|hypothetical protein LOC140710 protein-coding 1348581 C20orf118 chromosome 20 open reading frame 118 12477932 140711 NM_080628,AL079335,CH471077,AK123544,BC127688,BC130646,BC130648 NP_542195,CAI42292,CAM27762,EAW76092,EAW76093,BAG53910,AAI27689,AAI30647,AAI30649,A0PJX2,ADR83506 Hs.472630 dJ132F21.2 hypothetical protein LOC140711 protein-coding 1322749 C20orf12 chromosome 20 open reading frame 12 This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq] 16713569,12477932,11780052,10431175,14702039 55184 AL049646,AL121893,AL158176,CH471133,AK001462,AK026306,AK055544,AK131451,AK295073,AK299746,NM_001099407,BC036231,BC130341,BC144153,CR749327,DC323828,DQ104738 CAI12510,CAI12511,NP_001092877,CAI21830,CAI21831,EAX10242,EAX10243,EAX10244,EAX10245,EAX10246,BAA91706,BAB70949,BAD18596,BAH11962,AAI30342,AAI44154,CAH18182,AAZ13595,Q9NVP4,BAH13117 Hs.472225 C20orf84|DKFZp781J2425|FLJ10600|FLJ30892|bA189K21.1|bA189K21.8|dJ568F9.2 OTTHUMP00000030357|ankyrin repeat-containing protein C20orf12 protein-coding 1352743 C20orf123 chromosome 20 open reading frame 123 18064667,11181995 128506 NM_080721,AL034424,CH471077 NP_542452,CAC36102,EAW75730,EAW75731,Q9BR26 Hs.526636 OC-STAMP|dJ257E24.3 osteoclast stimulatory transmembrane protein|transmembrane protein C20orf123 protein-coding 1343891 C20orf131 chromosome 20 open reading frame 131 140698 AL136172 1352113 C20orf132 chromosome 20 open reading frame 132 16381901,15635413,15489336,15342556,14702039,12477932,11780052,11256614,11076863,19668339,20379614 140699 NM_152503,NM_213632,NM_213631,AL031659,AL136172,AK093432,AL833864,AL844420,BC030006,BC057767,BP371691,BU783865,BX098572,BX119123 NP_689716,NP_998797,NP_998796,CAI42662,CAI42663,CAI42665,CAI42666,CAI95714,CAI95715,CAI95718,CAI95719,CAI95720,BAC04162,CAD38722,AAH30006,AAH57767,Q0P682,Q4VXK3,Q5JYQ7,Q5JYQ9,Q5JYR0,Q6PF12,Q9H579,CAL37400,CAL37697,CAM28238 Hs.724670 C20orf131|DKFZp434N0426|FLJ36113|dJ621N11.3|dJ621N11.4 OTTHUMP00000030894|OTTHUMP00000030896|OTTHUMP00000030898|OTTHUMP00000180603|hypothetical protein LOC140699 protein-coding 1346529 C20orf134 chromosome 20 open reading frame 134 11780052,12477932 170487 NM_001024675,AL121906,CH471077,BC137111,BC137114 NP_001019846,CAI22126,EAW76309,AAI37112,AAI37115,Q5JWF8 Hs.592151 dJ63M2.2 putative uncharacterized actin family protein C20orf134 protein-coding 1320221 C20orf135 chromosome 20 open reading frame 135 15489334,12477932,11780052,8889548 140701 NM_080622,AL118506,CH471077,AW772131,BC031949,BM700775 NP_542189,CAC15491,EAW75203,Q96F95,Q9H3Z7,AAI66655 Hs.266774,Hs.675171 C20orf135|MGC42974|dJ591C20.1 hypothetical protein LOC140701 protein-coding 1347173 C20orf141 chromosome 20 open reading frame 141 15489334,12477932,11780052 128653 NM_080739,AL035460,CH471133,AK312218,AL713708,BC014591,HC006826,HC044737 NP_542777,CAB82247,EAX10574,BAG35151,CAD28505,AAH14591,Q6ZPB1,Q6ZU23,Q8WW34,Q9NUB4,CBH19219,CBH30698 Hs.352187 MGC26144|dJ860F19.4 hypothetical protein LOC128653 protein-coding 1348206 C20orf144 chromosome 20 open reading frame 144 15489334,12477932,11780052 128864 BX378327,NM_080825,AL121906,CH471077,BC032818,CR617586,DQ080434 NP_543015,CAC34270,EAW76310,AAH32818,AAZ39562,Q1AHR2,Q9BQM9 Hs.324104 dJ63M2.6 hypothetical protein LOC128864 protein-coding 1353930 C20orf151 chromosome 20 open reading frame 151 15489334,14702039,12477932,11780052,16344560 140893 AL121832,CH471077,CQ782881,AK074919,AK128718,AK290299,BC006450,BC033142,BC137326,BC137327,NM_080833,DA871775 Q8NC74,CAI23285,EAW75362,EAW75363,CAF86109,BAC11293,BAC87589,BAF82988,AAH06450,AAH33142,AAI37327,AAI37328,Q6ZQU4,NP_543023 Hs.180374 dJ908M14.3 hypothetical protein LOC140893 protein-coding 1323261 C20orf152 chromosome 20 open reading frame 152 14702039,12477932,11780052 140894 NM_080834,AL109965,AL359828,CH471077,AK057454,BC030782,BC057288,BC114634,BC114945 NP_543024,CAI19248,CAI19249,CAI23441,CAI23442,EAW76148,EAW76149,BAB71494,AAH30782,AAI14946,Q14C79,Q4G141,Q96M20 Hs.517008 MGC138880|dJ954P9.1 hypothetical protein LOC140894 protein-coding 1345661 C20orf153 chromosome 20 open reading frame 153 170489 AL356755 1349686 C20orf157 chromosome 20 open reading frame 157 140896 AL031686 CAB42849,Q6KAL7 dJ981L23.3 protein-coding 1347805 C20orf158 chromosome 20 open reading frame 158 85362 NM_152302 1344242 C20orf159 chromosome 20 open reading frame 159 140705 AL031658 CAB88102 dJ310O13.4 protein-coding 1344204 C20orf160 chromosome 20 open reading frame 160 16344560,15489334,14702039,12477932,11780052,20237496 140706 NM_080625,AL031658,CH471077,AK057090,AK125588,BC019892,BC030254,BC032455,CA406781,DA936380,DB331650 NP_542192,CAI42581,CAI42582,EAW76395,EAW76396,EAW76397,BAB71363,BAG54219,AAH30254,AAH32455,Q5JYR8,Q9NUG4 Hs.382151,Hs.638682 FLJ43600|dJ310O13.5 hypothetical protein LOC140706 protein-coding 1351206 C20orf165 chromosome 20 open reading frame 165 19240080,15489334,12477932,11780052 128497 NM_080608,AL008726,CH471077,BC039607 NP_542175,CAC36017,EAW75791,AAH39607,Q9BR10 Hs.128235 TSG23|dJ337O18.8 chromosome 20 open reading frame 165 protein-coding 1349021 C20orf166 chromosome 20 open reading frame 166 15489334,14702039,12477932,11780052,8681137 128826 NM_178463,AL449263,CH471077,AK056985,BC110595,F35210 NP_848558,CAC18681,CAI95682,EAW75355,AAI10596,Q9H1L0,ACT64434,ACT64435 Hs.86507 FLJ32423|MGC129808|dJ353C17.1 hypothetical protein LOC128826 protein-coding 1343963 C20orf168 chromosome 20 open reading frame 168 140863 AL050348 CAC36104,Q9BQP5 dJ447F3.6 protein-coding 1351674 C20orf173 chromosome 20 open reading frame 173 16344560,15489334,14702039,12477932,11780052,11181995 140873 NR_026933,NM_001145350,AL121586,CH471077,AK058089,AK310337,BC112060,BC112062,DB057743 NP_001138822,CAO03347,EAW76201,EAW76202,EAW76203,BAB71659,AAI12061,AAI12063,Q4VXS0,Q96LM9 Hs.158680 FLJ25360|MGC138265|MGC138267|dJ477O4.4 OTTHUMP00000196097|hypothetical protein LOC140873 protein-coding 1345172 C20orf176 chromosome 20 open reading frame 176 140879 AL133230 CAC00619,Q9NQQ3 dJ530I15.3 protein-coding 1323673 C20orf177 chromosome 20 open reading frame 177 17207965,15489334,12477932,11780052,8889548 63939 NM_022106,AL109928,CH471077,AK125073,AK304220,AL137442,BC020771,BC054002,AK074295,CB242399,DB476861,NM_001190826,NM_001190827,CR612343 NP_071389,CAB92095,EAW75424,BAG54133,BAG65092,CAB70739,ADQ32556,AAH20771,AAH54002,Q05CU2,Q9NTX9,NP_001177755,NP_001177756 Hs.54973,Hs.596058 dJ551D2.5 OTTHUMP00000174472|OTTHUMP00000174473|hypothetical protein LOC63939 protein-coding 1348127 C20orf181 chromosome 20 open reading frame 181 140843 U63828,AL158091 AAB06956,CAC17643,Q92884,Q9H1S0 Hs.555583 dJ824A14.1 protein-coding 1604466 C20orf185 chromosome 20 open reading frame 185 17353931,11971875,12837268,12477932,11780052,20237496 359710 NM_182658,AL121756,CH471077,AF549189,BC113398,BC113400 NP_872599,CAI22531,EAW76338,AAP84989,AAI13399,AAI13401,P59826,Q14DE0,ADR83194 Hs.472442 LPLUNC3|RYA3|dJ726C3.4 ligand-binding protein RYA3|long palate, lung and nasal epithelium carcinoma associated 3|long palate, lung and nasal epithelium carcinoma-associated protein 3 protein-coding 1344811 C20orf186 chromosome 20 open reading frame 186 12887310,12837268,11971875,11780052,20237496 149954 NM_182519,AL121756,CH471077,AF549190 NP_872325,CAI22532,EAW76336,EAW76337,AAP84990,P59827,AAI40294,AAI46506 Hs.38961 LPLUNC4|RY2G5|dJ726C3.5 ligand-binding protein RY2G5|likely ortholog of rat probable ligand-binding protein RY2G5|long palate, lung and nasal epithelium carcinoma associated 4|long palate, lung and nasal epithelium carcinoma-associated protein 4 protein-coding 1343604 C20orf187 chromosome 20 open reading frame 187 11780052,11181995 728434 XM_001131465,AL050322,CH471133,BX281604 XP_001131465,CAB65795,EAX10337,Q9UGB4 Hs.570365 dJ727I10.1 hCG2045828|putative uncharacterized protein C20orf187 protein-coding 1350199 C20orf189 chromosome 20 open reading frame 189 140871 NG_002787,AL078587 C20orf189|dJ760C5.1 pseudo 1316045 C20orf19 chromosome 20 open reading frame 19 16980960,19536135,12477932 55857 CH471133,AF220187,AF451990,AK025476,AK293166,AK293567,AK295355,AK296399,AL110196,BC013055,BC039296,BC045826,BC065550,BC090879,BC105093,BC113370,CR616364,DC386700,AL121759,NM_018474,NM_001163022,NM_001163023,AL110120,AL117332 EAX10188,EAX10189,EAX10190,EAX10191,EAX10192,EAX10193,AAF67652,AAP97689,BAG56710,BAG57038,BAG58321,BAG59066,AAH39296,AAH65550,AAH90879,AAI05094,AAI13371,Q2M2Z5,Q69YZ6,CAH10726,NP_060944,NP_001156494,NP_001156495,AAH45826 Hs.187635 C20orf19|DKFZp586H021|HT013|Kiz|Kizuna|MGC102941|MGC141930|NCRNA00153 centrosomal protein kizuna protein-coding 1348152 C20orf191 chromosome 20 open reading frame 191 12477932,11780052 149934 BC132806,NR_003678,AL391119,BC132808,EH318080 Hs.711274 bB329D4.2 pseudo 1349038 C20orf194 chromosome 20 open reading frame 194 15146197,14702039,12477932,11780052,11549316,11181995,15489334,20379614 25943 NM_001009984,AL109976,AL117334,CH471133,AK023919,AK226100,AK303375,AK310540,AL110249,AU311821,BC041916,BC064352,BC080528,BC106086,BC122529,BX424937,CN285135,CR626597 NP_001009984,CAI22834,CAI22431,EAX10533,EAX10534,BAG64431,CAB53697,AAH64352,AAH80528,AAI06087,AAI22530,Q0IIP3,Q3KQR5,Q5TEA3 Hs.516853 DKFZp434N061|MGC117480|MGC141683 hypothetical protein LOC25943 protein-coding 1601971 C20orf195 chromosome 20 open reading frame 195 16189514,15489334,12477932,11780052 79025 NM_024059,AL121829,CH471077,AK125168,BC000912 NP_076964,CAI95748,EAW75258,AAH00912,Q9BVV2 Hs.197755 MGC5356 hypothetical protein LOC79025 protein-coding 1606148 C20orf196 chromosome 20 open reading frame 196 12477932,21130836 149840 NM_152504,AL035249,AL390028,CH471133,AK057796,AK292708,BC035800 NP_689717,CAI19011,CAI19013,CAI19014,CAI22784,CAI22786,EAX10411,EAX10412,BAB71578,BAF85397,AAH35800,Q5TGA6,Q5TGB0,Q8IYI0,CAI19010,CAI22783 Hs.529340 FLJ25067|RP4-784N16.1 OTTHUMP00000030207|hypothetical protein LOC149840 protein-coding 1606918 C20orf197 chromosome 20 open reading frame 197 15489334,14702039,12975309,12477932,11780052 284756 NM_173644,AL132822,CH471077,AK091179,AY358539,BC101349,BC101350,BC101351 NP_775915,CAI18869,EAW75416,BAC03602,AAQ88903,AAI01350,AAI01351,AAI01352,Q6UX30,Q8N268 Hs.335319 FLJ33860|MGC120496|RP5-1017F8.1 hypothetical protein LOC284756 protein-coding 1603447 C20orf199 chromosome 20 open reading frame 199 12477932,8889548,16712791 441951 NR_003604,NR_003605,NR_003606,AL049766,AK124175,AY339614,AY513722,AY513723,BC032480,BC042807,BC060315,BC062222,BC062447,BC105282,BM706184,BM745942,CB137861,CR936805,NR_036658,NR_036659 AAS76638 Hs.356766 C20orf199|HSUP1|HSUP2 miscrna 1318486 C20orf20 chromosome 20 open reading frame 20 15647280,15489334,14702039,12963728,12477932,11780052,16230350,18029348,20051959,16407074 55257 NM_018270,AL035669,CH471077,AB085682,AK001776,BC009889,BC014235,BC018841,CS348926 NP_060740,CAC12748,EAW75342,EAW75343,BAF80630,BAA91902,AAH09889,AAH14235,AAH18841,Q9NV56,CAL23011 Hs.590870 Eaf7|FLJ10914|MRG15BP|MRGBP|URCC4 MRG(MORF4-related gene)-binding protein|MRG-binding protein protein-coding 1602964 C20orf200 chromosome 20 open reading frame 200 14702039,12477932,16344560 253868 AL449263,CH471077,AK054875,AK056546,BC093856,BC111938,AL832097,DA722400,NR_033263 EAW75356,EAW75357,EAW75358,EAW75359,BAB70817,BAG51743,AAH93856,AAI11939,Q96NR2 Hs.337024 DKFZp313D1938|FLJ30313|MGC138143 miscrna 1604727 C20orf201 chromosome 20 open reading frame 201 12477932 198437 NM_001007125,AL590548,CH471077,BC036837 NP_001007126,CAD11903,CAD27487,EAW75164,EAW75165,AAH36837,Q8TD35 Hs.570316 bA299N6.3|hypothetical protein LOC198437 protein-coding 1317125 C20orf24 chromosome 20 open reading frame 24 17353931,15489334,15178406,14759258,12477932,11780052,8824393,20877624 55969 NM_018840,NM_199483,NR_026562,AL050318,CH471077,AF112213,AF274936,AF274948,BC001871,BC004446,BI223439,BQ086248,BU174619,BU194101,BU848918,CR597224,CR609489,CR611434,CR616996,CR624571,S83364,BG395753,CD370956,BU189639,NM_001199534 NP_061328,NP_955777,CAB75367,CAI23511,CAI23512,EAW76120,EAW76121,EAW76122,EAW76124,EAW76125,AAF17201,AAK07515,AAK07525,AAH01871,AAH04446,EAW76123,AAB50849,Q5QPG6,Q9BUV8,Q9BZT8,NP_001186463 Hs.584985 PNAS-11|RIP5 RAB5-interacting protein protein-coding 1323021 C20orf26 chromosome 20 open reading frame 26 20379614,18029348,19240061,15489334,14702039,12477932,11780052 26074 NM_001167816,NM_015585,AL035454,AL049648,AL121721,AL158849,AL161658,CH471133,AK057364,AK304174,AK307817,AL117439,BC015959,BC028708,BC031674 NP_001161288,NP_056400,CAI42114,CAI42115,CAI42116,CAI42117,CAI42249,CAI42250,CAI42251,CAI42252,CAI42253,CAI42254,CAI19156,CAI19157,CAI40813,EAX10202,EAX10203,EAX10204,BAB71452,BAH14126,CAB55925,AAH28708,AAH31674,Q5JXV0,Q5JXV2,Q5JXV5,Q5JXV6,Q8NHU2 Hs.176013 DKFZp434K156|dJ1002M8.3|dJ1178H5.4 hypothetical protein LOC26074 protein-coding 1323352 C20orf27 chromosome 20 open reading frame 27 15489334,14702039,12665801,12477932,11780052,9373149,8125298,16189514,19913121,20628086 54976 NM_001039140,AL109804,CH471133,AK000557,AK024220,AK097645,AK124341,AK125202,AK225109,AK290955,AK308520,BC010873,BC012196,BC024036,BC069204,BF978883,CR591203,CR592157,CR596792,CR597067,CR597474,CR598944,CR599225,CR606948,CR614642,CR614738,CR615129,CR616702,CR620256,CR623724,CR626675 NP_001034229,CAC17545,CAI18842,CAI18843,EAX10508,BAA91252,BAB14854,BAG53501,BAF83644,AAH12196,AAH24036,Q5JX81,Q9GZN8,EAX10510,EAX10511,Q5JX82 Hs.274422 FLJ20550 OTTHUMP00000030116|hypothetical protein LOC54976 protein-coding 1345016 C20orf29 chromosome 20 open reading frame 29 15489334,14702039,12477932,11780052 55317 NM_018347,AL109804,CH471133,CS300639,AK002030,AK093332,BC011985,BC043344,CR610495 NP_060817,CAC17552,CAI18850,CAM26956,EAX10483,EAX10484,EAX10485,EAX10486,CAK32303,BAA92045,BAG52692,AAH43344,Q5JX74,Q9NUS5 Hs.104806 FLJ11168 OTTHUMP00000030130|OTTHUMP00000161028|hypothetical protein LOC55317 protein-coding 1318897 C20orf3 chromosome 20 open reading frame 3 17207965,16335952,15489334,14702039,12975309,12754519,12477932,11780052,10945474,8889548,18513186,16169070 57136 NM_020531,AL035661,CH471133,AB033767,AK025834,AK026866,AK291129,AK301959,AY359076,BC003501,BG773501,CF131759,CR592912,CR599249,CR608030,CR608277 ADQ31753,NP_065392,CAB75499,EAX10113,EAX10114,BAB11885,BAB15253,BAB15578,BAF83818,BAG63373,AAQ89435,AAH03501,Q9HDC9 Hs.472330 APMAP|BSCv OTTHUMP00000164236|adipocyte plasma membrane-associated protein|protein BSCv protein-coding 1316576 C20orf30 chromosome 20 open reading frame 30 15489334,14702039,12975309,12477932,11780052,17207965,21048031,16169070 29058 NM_001009924,NM_001009925,NM_001009923,AL121890,AL121924,CH471133,AF161392,AK055700,AK309823,AK315606,AL357536,AY359115,BC009768,BC009769,BC009770,BC011990,BC015113,NM_014145,BC066317,BC070212,BC110408,CR595596,CR600911,CR601451,CR601625,CR602290,CR605463,CR609706,CR616608,CR617961,CR619633,CR624348 NP_054864,NP_001009924,NP_001009925,NP_001009923,CAI19213,CAI19215,CAI19216,CAI22627,CAI22629,CAI22630,EAX10431,EAX10432,EAX10433,EAX10434,EAX10435,EAX10436,EAX10437,AAF28952,BAG37975,AAQ89473,AAH09768,AAH09769,AAH09770,AAH11990,AAH15113,AAH70212,AAI10409,Q96A57,ADQ33136 Hs.472024 HSPC274|dJ1116H23.2.1 OTTHUMP00000030182|OTTHUMP00000030185|OTTHUMP00000030187|hypothetical protein LOC29058 protein-coding 1322325 C20orf4 chromosome 20 open reading frame 4 17207965,16189514,15489334,12665801,12477932,11780052,11230166,10810093 25980 NM_015511,AL121895,CH471077,AF113672,AF132957,AL117419,BC001751,BC019311,CR590998,CR594170,CR610727 NP_056326,CAC09921,EAW76141,EAW76142,ADQ32438,AAF29578,AAD27732,CAB55913,AAH01751,AAH19311,Q9Y312,EAW76143 Hs.11314 CGI-23|DKFZp564N1363|bA234K24.2 hypothetical protein LOC25980 protein-coding 1322335 C20orf43 chromosome 20 open reading frame 43 15635413,15489334,15342556,14702039,12477932,11780052,11042152,10931946,9373149,8125298 51507 NM_016407,AL109806,AF117231,AF161513,AF161518,AF212244,AI352436,AK000481,AK000586,AK026118,AK225135,AK293662,AK302029,AK314563,AY320413,BC001536,BC002769,BC003359,BP307634,BU537939,CR593145,CR594888,CR595627,CR596403,CR597647,CR598036,CR599404,CR600257,CR602341,CR602978,CR603326,CR604845,CR606373,CR607518,CR608256,CR609541,CR610437,CR617366,CR620166,CR621742,CR625569 CAM27631,CAM27632,NP_057491,CAC03740,AAF17212,AAF29128,AAF29133,AAK14929,BAA91193,BAG57109,BAG63427,BAG37146,AAP73812,AAH02769,AAH03359,Q7Z5Z1,Q9BY42 Hs.517134 CDAO5|HSPC164|SHUJUN-3 OTTHUMP00000166075|hypothetical protein LOC51507 protein-coding 1354046 C20orf46 chromosome 20 open reading frame 46 17474147,19010793,14702039,11780052,20944657 55321 NM_018354,AL031665,CH471133,AK002052 NP_060824,CAC16505,CAI21758,EAX10647,EAX10648,BAA92058,Q5QPM3,Q9NUR3,AAI56782 Hs.516834 FLJ11190 OTTHUMP00000029950|transmembrane protein C20orf46 protein-coding 1312203 C20orf54 chromosome 20 open reading frame 54 19122205,20206331,17207965,16344560,16303743,15489334,14702039,12477932,11780052,20729853,20724488 113278 HH961814,NM_033409,AL118502,CH471133,AI244952,AK074650,AK291706,BC009750,DA302552,DA358731,NG_027687 ADQ32763,CBX51380,NP_212134,CAH73077,CAH73078,EAX10657,EAX10658,EAX10659,BAC11113,BAF84395,AAH09750,Q9NQ40 Hs.283865 BVVLS|MGC10698|RFT2|bA371L19.1|hRFT2 hypothetical protein LOC113278|riboflavin transporter 2 protein-coding 1350933 C20orf56 chromosome 20 open reading frame 56 11752456,11181995 140828 NR_001558,AL121722,AL356742,CH471133,AV648632,BG655894 EAX10176 Hs.9842 C20orf56|bA216C10.1|dJ788L20.2 miscrna 1348541 C20orf57 chromosome 20 open reading frame 57 83747 AK000652,AL160175 CAI12818,Q5QP66 Hs.434108 FLJ20645|bA243J16.5 protein-coding 1323655 C20orf59 chromosome 20 open reading frame 59 18375752,16344560,15489334,14702039,12693554,12477932,11780052,20382737 63910 NM_022082,AL121673,CH471077,AK027065,AK074107,AK095473,AK125597,AK298503,BC025312,BC027447,BC038593,DB153870 NP_071365,CAC28600,CAH72268,CAH72269,EAW75313,EAW75314,EAW75315,EAW75316,EAW75317,BAB15644,BAB84933,BAG53064,BAG60710,AAH27447,Q9BYT1,Q9H5I2,AAH25312,Q5W197 Hs.512686 C20orf59|FLJ23412|SLC17A9 solute carrier family 17 member 9|vesicular nucleotide transporter SLC17A9 protein-coding 1351532 C20orf61 chromosome 20 open reading frame 61 19204726 140833 AL080274 CAB88097,Q9NU29 dJ1012F16.1 protein-coding 1348821 C20orf62 chromosome 20 open reading frame 62 140834 1347902 C20orf66 chromosome 20 open reading frame 66 343629 XM_001716673,XM_293121,XM_001723936,AL121919,AL136532,CH471077 XP_001716725,XP_293121,XP_001723988,EAW75440,P0C7V3 bA379F14.2 protein-coding 1348588 C20orf68 chromosome 20 open reading frame 68 140848,140848 AL139825,CR747489,AI026654 Hs.570367 C20orf68|bA467D7.4 non-protein coding RNA 227 miscrna 1348961 C20orf69 chromosome 20 open reading frame 69 12477932 140849 BC122537,AL137028,BC118988 AAI22538,CAC28313,AAI18989,Q0VF47,Q9BZ41 Hs.473317 bA476I15.3 protein-coding 1603963 C20orf7 chromosome 20 open reading frame 7 18940309,14702039,12477932,16344560,19542079,20379614,16712791,17207965 79133 NM_001039375,NM_024120,AL109657,CH471133,AA252680,AK025977,AK091060,AK289781,BC005984,BC073158,BM993545,CB156360,CR596921,CR616637,AL161659,AA789132,DA289766,NG_015811,NR_029377 NP_001034464,NP_077025,CAI22985,CAI22986,CAI15136,CAI15137,EAX10311,BAB15305,BAG52273,BAF82470,AAH05984,AAH73158,Q5TEU4,ADQ32043 Hs.472165 FLJ22324|MGC90272|bA526K24.2|dJ842G6.1 probable methyltransferase C20orf7, mitochondrial protein-coding 1351299 C20orf70 chromosome 20 open reading frame 70 17207965,19499239,18221458,16740002,15489334,12975309,12477932,11971875,11780052 140683 NM_080574,AL121901,CH471077,AF432917,AK130543,AK130550,AK291854,AY359055,BC065726 NP_542141,CAC03546,EAW76335,AAL28113,BAC85378,BAF84543,AAQ89414,AAH65726,Q6ZNV9,Q96DR5,ADQ32051 Hs.125960 PSP|SPLUNC2|bA49G10.1 parotid secretory protein|short palate, lung and nasal epithelium carcinoma associated 2|short palate, lung and nasal epithelium carcinoma-associated protein 2 protein-coding 1347929 C20orf71 chromosome 20 open reading frame 71 12477932,11971875,11780052 128861 NM_178466,NM_001042439,AL121901,CH471077,AI073399,AW082233,BC041904,BC066354,BF966133,DB446335,HC006830,HC044549 NP_848561,NP_001035904,CAI14741,CAI14742,EAW76330,EAW76331,EAW76332,EAW76333,AAH66354,Q9BQP9,CBH19221,CBH30604 Hs.360989 MGC44525|SPLUNC3 short long palate, lung and nasal epithelium carcinoma associated 3|short palate, lung and nasal epithelium carcinoma-associated protein 3 protein-coding 1316675 C20orf72 chromosome 20 open reading frame 72 16189514,15489334,14702039,12477932,11780052,17207965,20877624 92667 NM_052865,AL121585,CH471133,AF306684,AF306685,AF306686,AK027503,AK309563,AK309995,AK310282,AK315532,BC016869 NP_443097,CAC35072,CAI14860,CAI14861,EAX10260,EAX10261,EAX10262,BAB55160,BAG37912,AAH16869,Q9BQP7,ADQ32296 Hs.320823 FLJ14597|bA504H3.4 hypothetical protein LOC92667 protein-coding 1343955 C20orf74 chromosome 20 open reading frame 74 16490346,14702039,12477932,10574462,19520869,8619474,9110174 57186 NM_020343,AL078634,AL121896,AL157718,AL161658,AK002211,AK022881,AK127228,BC013749,BC171842,BE467241,DQ310704,AY007097,CR990457,XR_109651,XR_112126,XR_115348 NP_065076,CAI95625,CAI95626,CAI95627,CAI95628,CAC27348,CAI39939,CAI39940,CAI12810,CAI40814,CAI40815,BAB14290,AAH13749,ABC33805,Q2PPJ7,Q4VXU5 Hs.472285,Hs.593067 AS250|C20orf74|FLJ12819|KIAA1272|RP11-470C13.2|bA287B20.1|dJ1049G11|dJ1049G11.4 250 kDa substrate of Akt|OTTHUMP00000030391|RapGAPalpha2|akt substrate AS250|p220|ral GTPase-activating protein alpha subunit 2|ral GTPase-activating protein subunit alpha-2 protein-coding 1347015 C20orf78 chromosome 20 open reading frame 78 11780052 128763 AL035563 CAC36049,Q9BR46 dJ1068E13.1 putative uncharacterized protein C20orf78 protein-coding 1318122 C20orf79 chromosome 20 open reading frame 79 15489334,12477932,11780052 140856 NM_178483,AL035563,CH471133,AF418568,AF418570,AK130970,AY248902,BC105121,BC112024,HC006832 NP_848578,CAB56175,EAX10224,AAP97287,AAP97289,AAP20053,AAI05122,AAI12025,Q6X959,Q9UJQ7,CBH19222 Hs.112794 HSD22|MGC138229|dJ1068E13.2 hypothetical protein LOC140856|sterol carrier protein 2-like protein protein-coding 1343671 C20orf80 chromosome 20 open reading frame 80 14702039 91222 Q96ND1,Q9BZ00,Q9BZ01 AK055615,AL441988 BAB70972,CAC27358,Q96ND1,Q9BZ00,Q9BZ01 Hs.653099 bA348I14.2 protein-coding 1351580 C20orf83 chromosome 20 open reading frame 83 128615 NG_011695,AL389889 C20orf83|bA164D18.1 pseudo 1342910 C20orf85 chromosome 20 open reading frame 85 17304513,15489334,12477932,11780052,8889548 128602 NM_178456,AL354776,CH471077,BC035405,BU676204,BX093883 NP_848551,CAC17564,EAW75503,AAH35405,Q9H1P6 Hs.43977 LLC1|bA196N14.1 hypothetical protein LOC128602|low in lung cancer 1 protein-coding 1352255 C20orf89 chromosome 20 open reading frame 89 140882 AL157414 1344735 C20orf90 chromosome 20 open reading frame 90 140865 AL357033 CAC14922,Q9H4T6 bA93B14.2 hypothetical protein LOC140865 protein-coding 1352856 C20orf94 chromosome 20 open reading frame 94 19596235,20379614,12477932 128710 NM_001009608,AL034430,AL035456,AL133340,AL353599,CH471133,BC020787,BC026094 NP_001009608,CAI42184,CAH71244,CAH71745,EAX10342,AAH20787,AAH26094,Q5VYV7 Hs.668782 bA204H22.1|bA254M13.1|dJ1099D15.3 hypothetical protein LOC128710 protein-coding 1343259 C20orf95 chromosome 20 open reading frame 95 343578 NM_001164431,AL035419,AL133519 NP_001157903,CAI19168,CAI19170,CAM27458,Q5TG30 Hs.451997 C20orf95|dJ1100H13.4 OTTHUMP00000030971|Rho GTPase-activating protein 18-like|rho GTPase-activating protein 18-like|rho GTPase-activating protein 40|rho-type GTPase-activating protein 40 protein-coding 1346131 C20orf96 chromosome 20 open reading frame 96 14702039,12477932,11780052 140680 NM_153269,AL034548,CH471133,AK091924,AK097394,AK126082,AK302223,AK304526,BC051762,BC134417,BC137450,BC144648,BC144649,BX640715,CR597939,CR614965,CR621146 NP_695001,CAB81629,CAI19175,EAX10681,EAX10682,BAC03772,BAC05033,BAC86429,BAH13653,BAH14207,AAI34418,AAI37451,AAI44650,CAE45834,Q6N036,Q6ZTZ8,Q9NUD7 Hs.348112 FLJ40075|dJ1103G7.2 hypothetical protein LOC140680 protein-coding 1352058 C21orf104 chromosome 21 open reading frame 104 54748 AJ011409 CAB56458,Q9UJ94 Hs.548784 miscrna 1343792 C21orf105 chromosome 21 open reading frame 105 90625 XM_033004 1350728 C21orf110 chromosome 21 open reading frame 110 642460 NG_009612,AL050302 ANKRD30BP|C21orf110|PRED4 pseudo 1354271 C21orf111 chromosome 21 open reading frame 111 11329013 388830 AL163302,CH471079,BG221750 CAB90481,EAX09347,Q9NSH9 Hs.592162 PRED59 protein-coding 1342765 C21orf112 chromosome 21 open reading frame 112 378824 BF694301 Hs.125113 PRED71 protein-coding 1345871 C21orf113 chromosome 21 open reading frame 113 378825 AI015287 1349466 C21orf114 chromosome 21 open reading frame 114 378826 AF304443 1352954 C21orf115 chromosome 21 open reading frame 115 378827 1353985 C21orf116 chromosome 21 open reading frame 116 378820 AF130090 AAG35516,Q9H386 PRED82 protein-coding 1345302 C21orf117 chromosome 21 open reading frame 117 12477932 378828 BC009878 Hs.551009 PRED89 protein-coding 1342696 C21orf118 chromosome 21 open reading frame 118 378829 AF304442 1350828 C21orf119 chromosome 21 open reading frame 119 15489334,12477932 84996 NR_026845,AP000269,CH471079,AI369236,AK026376,BC007928 EAX09875,Q96HZ7 Hs.58149 MGC14136|PRED84 miscrna 1347446 C21orf12 chromosome 21 open reading frame 12 54096 2305380 C21orf121 chromosome 21 open reading frame 121 15489334,14702039,12477932 150142 NR_027273,AP001620,CH471079,AK055167,BC029588 EAX09578,Q8N0V1 Hs.143833 PRED87 miscrna 1353118 C21orf122 chromosome 21 open reading frame 122 15489334,12477932,11181995 728039 NR_027292,AL133499,AL163301,AP001579,CH471079,BC004343 CAB90494,EAX09363,Q9BT51,Q9NSI1 Hs.309203 MGC10960|PRED57|PRED90 miscrna 1347663 C21orf124 chromosome 21 open reading frame 124 85006 NM_032920,BC021550 1345223 C21orf125 chromosome 21 open reading frame 125 14702039,12477932 284836 NR_026960,AP001047,AK095355,AK128444,AW294163,BC128187,BC128188 BAC87443 Hs.146127 FLJ38036|PRED49 miscrna 1343328 C21orf126 chromosome 21 open reading frame 126 391269 NG_009314,AP001347 pseudo 1353705 C21orf128 chromosome 21 open reading frame 128 15489334,14702039,12477932,10830953 150147 NR_027243,AP001621,CH471079,AK090790,BC063412 EAX09577,BAC03519,Q8N2C9 Hs.558646 FLJ33471 miscrna 1346473 C21orf129 chromosome 21 open reading frame 129 14702039,12477932,10830953,16009131 150135 NR_027272,AP001615,CH471079,AK057397,BC128198 EAX09593,EAX09594,BAB71470,Q96M42 Hs.350679 FLJ32835|PRED76 miscrna 1603251 C21orf130 chromosome 21 open reading frame 130 14702039 284835 NR_024100,AL773572,AK094492 Hs.106234 FLJ37173|PRED42 miscrna 1344191 C21orf131 chromosome 21 open reading frame 131 14702039,12477932 387486 NR_024090,AP000957,AK094858,BC042856,BC044727,BC047405,BC064598,BX537735 Hs.576551 DKFZp686B23275|FLJ37539|PRED14 miscrna 1343597 C21orf15 chromosome 21 open reading frame 15 11707072,10830953 54094 AL109748,NR_026755,AY040090,BX648100,CA415229 AAK74137 Hs.580910 miscrna 1348175 C21orf19 chromosome 21 open reading frame 19 11707072,10830953 54092 NG_000928,AP000689,AP001725 pseudo 1320014 C21orf2 chromosome 21 open reading frame 2 16341674,15489334,15068244,12477932,10830953,9465297,17207965 755 NM_004928,AP001062,AP001754,CH471079,AB209578,BC031300,BC072012,BM761336,U84569,U84570,Y11392,Z93322 NP_004919,BAA95562,EAX09431,EAX09432,EAX09433,EAX09434,EAX09435,BAD92815,AAH31300,AAH72012,AAB46590,AAB46591,CAA72202,CAB07532,O43822,Q59F82,Q8N5X6,ADQ32159 Hs.517331 A2|YF5 hypothetical protein LOC755|nuclear encoded mitochondrial protein, cDNA A2-YF5 protein-coding 1344496 C21orf29 chromosome 21 open reading frame 29 737768 12477932,12095917,10830953,15489334 737768 54084 NM_144991,AL773602,AL773604,AP001066,AP001067,CH471079,AJ487962,BC021197,BC115414,BC115415 NP_659428,EAX09401,EAX09402,EAX09403,CAD32309,AAH21197,AAI15416,Q14C60,Q8WU66 Hs.660703 C21orf29|MGC11251|TSPEAR OTTHUMP00000109540|TSP-EAR|protein TSPEAR protein-coding 1351394 C21orf30 chromosome 21 open reading frame 30 16780588,10830953 54083 XM_001722905,XM_001720003,XM_001726311,AP001065,CH471079,AL117578 XP_001722957,XP_001720055,XP_001726363,EAX09424,CAB56001,Q9UFM2 Hs.542533 DKFZP434C128 protein-coding 1346202 C21orf32 chromosome 21 open reading frame 32 10830953,15782160 54081 AP001753 BAA95555,P57056 putative gene with similarities to yeast gene YDL038c|putative uncharacterized protein C21orf32 protein-coding 1343023 C21orf33 chromosome 21 open reading frame 33 15342556,16169070,2290832,15489334,15082224,12477932,10830953,9205129,9179495,9150728,8975701,8889549,8753807,1286669,20877624 8209 BP283346,NG_021281,NM_004649,NM_198155,AB001517,AP001055,AP001753,CH471079,D86060,U53007,AA045757,BC002370,BC003587,CR595541,CR597695,CR599538,CR609783,CR621591,CR626372,D86061,D86062,U53003,Y07572 NP_004640,NP_937798,BAA21138,BAA21139,BAA95554,EAX09454,EAX09455,EAX09456,BAA20888,AAC50938,AAH02370,AAH03587,BAA12984,BAA12985,AAC50937,CAA68857,P30042 Hs.413482 D21S2048E|ES1|GT335|HES1|KNP-I|KNPH|KNPI ES1 protein homolog, mitochondrial|Keio novel protein I|OTTHUMP00000109521|OTTHUMP00000109522|human HES1 protein, homolog to E.coli and zebrafish ES1 protein protein-coding 1351648 C21orf34 chromosome 21 open reading frame 34 19913121,20628086,14702039,12036298,10830953,8889548,12477932,20379614,20732626 388815 AP000473,AP000962,AP001172,AP001343,AP001344,AP001346,CH471079,AF486622,AK095614,AL700268,BC130602,CF135136,BC130606,CF135139,NR_027790,NR_027791 EAX10037,EAX10039,AAL92104,AAI30603,AAI30607,A1L4M7,Q8TDA7 Hs.473394,Hs.719301 C21orf35|FLJ38295 miscrna 1345634 C21orf36 chromosome 21 open reading frame 36 54077 1345304 C21orf37 chromosome 21 open reading frame 37 54076 NM_001005521 1347138 C21orf40 chromosome 21 open reading frame 40 54074 1344582 C21orf41 chromosome 21 open reading frame 41 12036298,10830953 100379661 AP000238,AP000239,AY081145,NR_033368 AAL91139 Hs.659368 C21orf41 miscrna 1321877 C21orf45 chromosome 21 open reading frame 45 17199038,16303743,15881666,15489334,12477932,12036298,11001876,10830953,10773462,17207965 54069 NM_018944,AP000266,CH471079,CQ783409,AF231921,AF387845,AK075281,AK312073,AW962893,BC042917,BU567844,BU616573,BU623181,CB959520 NP_061817,EAX09881,CAF86614,AAF72945,AAK70498,BAC11517,BAG35009,AAH42917,Q9NYP9,ADQ32885 Hs.190518 B28|C21orf46|FASP1|MIS18A|MIS18alpha|hMis18alpha FAPP1-associated protein 1|protein Mis18-alpha protein-coding 1353237 C21orf47 chromosome 21 open reading frame 47 10830953 54068 AI282569 protein-coding 1347089 C21orf49 chromosome 21 open reading frame 49 16344560,14702039,12477932,10830953,7782076 54067 AP000280,NR_024622,NR_024623,CH471079,AK096601,BC034794,BC117397,BC117399,DA321673,DA776905 EAX09855,Q17RA5 Hs.54725 miscrna 1346218 C21orf53 chromosome 21 open reading frame 53 54063 1349584 C21orf54 chromosome 21 open reading frame 54 10830953 339629 AA934973 A6NM66 Hs.125234 protein-coding 1344058 C21orf56 chromosome 21 open reading frame 56 15231747,16381901,15489336,15489334,12477932,11230166,11076863,10830953 84221 NM_032261,NM_001142854,AP001468,AP001759,CH471079,AK304535,AL136871,AW138006,BC009497,BC065570,BC084577,BC093804,BC112293,CR533451,AK309847 CAG38482,Q9H0A9,CAL38578,CAL38595,NP_115637,NP_001136326,BAA95497,EAX09306,EAX09307,BAG65335,CAB66805,AAH09497,AAH65570,AAH84577,AAH93804,AAI12294,ADR82844 Hs.381214 DKFZp434N0650|MGC99490 hypothetical protein LOC84221 protein-coding 1318661 C21orf57 chromosome 21 open reading frame 57 20877624,16341674,12477932,11707072,10830953 54059 AK294975,NM_001006114,AP000471,CH471079,AI262212,AK128875,AY040873,AY040874,AY040875,AY040876,BC022828,BC068100,NM_058181,BC119770,BC122865,BC131553,BG473705,BM796288 BAH11937,NP_478061,NP_001006114,EAX09288,EAX09289,EAX09290,EAX09291,EAX09292,EAX09293,EAX09294,EAX09295,AAK74138,AAK74139,AAK74140,AAK74141,AAH22828,AAI19771,AAI22866,AAI31554,P58557,Q8TBC8 Hs.474066 C21orf57|FLJ46907 OTTHUMP00000115779|putative metalloprotease C21orf57 protein-coding 1351432 C21orf58 chromosome 21 open reading frame 58 14702039,12477932,11707072,10830953,7757816 54058 AP000471,CH471079,AK056387,AK096641,AK098098,AY039243,AY039244,BC026042,BC028934,BC044223,BC098408,BC121007,BC121008,BM475055,NM_058180 NP_478060,EAX09282,EAX09283,EAX09284,EAX09285,EAX09286,EAX09287,BAG51693,BAC05232,AAK72408,AAK72409,AAI21008,AAI21009,P58505,Q0VAL7,Q0VAL8,Q8N7N9 Hs.236572 OTTHUMP00000115795|hypothetical protein LOC54058 protein-coding 1315861 C21orf59 chromosome 21 open reading frame 59 15489334,14702039,16780588,17567994,15592455,12477932,9373149,8125298,17207965 56683 NM_021254,AP000275,CH471079,AF282851,AK000474,AK055328,AK094456,AK097566,AK098577,AK223318,AK225697,AK300970,BC000709,CR591188,CR591409,CR591794,CR607241,CR616421,CR625119,DQ655907,DQ655908,DQ656039,NR_036552 NP_067077,EAX09865,EAX09866,EAX09867,EAX09868,AAG00496,BAA91189,BAB70903,BAC04359,BAD97038,BAG62593,AAH00709,P57076,Q53FH0,Q8N9H5,Q96NJ2,Q9NX33,ADQ31713 Hs.5811 C21orf48|FLJ20467|FLJ37137|FLJ40247 OTTHUMP00000107731|OTTHUMP00000174371|hypothetical protein LOC56683 protein-coding 1343736 C21orf62 chromosome 21 open reading frame 62 17567994,15342556,15146197,12477932,12036298,10773462 56245 AC203640,NM_019596,NM_001162495,NM_001162496,AP000280,CH471079,AF231922,AI651610,AK290983,BC004959,BC069689,BC069709,BC069766,BC069779,BE466137,BM512397,BP214434,BU789528,CN428551,DQ656042 NP_062542,NP_001155967,NP_001155968,EAX09853,EAX09854,AAF72946,BAF83672,Q9NYP8,AAI72318 Hs.517235 B37|C21orf120|PRED81 OTTHUMP00000216390|OTTHUMP00000216391|hypothetical protein LOC56245 protein-coding 1316841 C21orf63 chromosome 21 open reading frame 63 17672918,15489334,12975309,12477932,11707072,18851979,19470522,20379614 59271 NM_058187,AP000269,AP000270,AP000271,AP000272,CH471079,AF358258,AK125013,AK126660,AY040087,AY358787,BC038710,BX373211,CR600031,CR604238,CR605246,CR608560,CR608735,CR608969,CR615783 NP_478067,EAX09870,EAX09871,EAX09872,EAX09873,AAL40411,BAG54122,BAC86633,AAK74135,AAQ89147,AAH38710,P58658,Q6ZTF6 Hs.208358 B18|B19|C21orf64|PRED34|SUE21 hypothetical protein LOC59271 protein-coding 1347551 C21orf64 chromosome 21 open reading frame 64 59270 1353290 C21orf66 chromosome 21 open reading frame 66 This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 16780588,17081983,16344560,15302935,14702039,12477932,11707072,11042152,10773462 94104 NM_016631,NM_013329,NR_027873,AP000279,AP000280,CH471079,AF153208,AF208862,AF231920,AJ279080,AJ279081,AK075042,AK093291,AK128513,AK309404,AL706425,AY033903,AY033904,AY033905,AY033906,BC005213,BC030539,BC062992,BC084542,CD557070,CR603496,DB031308 NP_057715,NP_037461,EAX09857,EAX09858,EAX09859,EAX09860,EAX09861,AAD34617,AAF64276,AAF72944,CAC40813,CAC40814,BAC11369,BAG52682,BAG54687,AAK68721,AAK68722,AAK68723,AAK68724,AAH30539,AAH84542,Q5XGA1,Q8N2J1,Q8N6E6,Q9NZD7,Q9Y5B6,AAI56215,ABM82550,ABM85741 Hs.644004 BM020|C21orf66|FLJ90561|FSAP105|GCFC GC-rich sequence DNA-binding factor 1|GC-rich sequence DNA-binding factor candidate|GC-rich sequence DNA-binding factor homolog|OTTHUMP00000197869|functional spliceosome-associated protein 105 protein-coding 1351457 C21orf67 chromosome 21 open reading frame 67 16780588,15489334,12477932,11707072,8889548 84536 NR_027129,AL844908,CH471079,AF380178,AY035381,AY040088,BC101235,BC101236,BC101237,BC101238,BC128244,BC128245,BI829356,BI907880,BM674075,NR_027128 EAX09373,EAX09375,AAL34496,AAK60445,AAK74136,P58512 Hs.534504 C21orf69|MGC120186|MGC120187|MGC120188|MGC120189|MGC149386|MGC149387|PRED54 miscrna 1342876 C21orf69 chromosome 21 open reading frame 69 16780588,15489334,12477932,11707072 84537 AL844908,AY035381,BC101235,BC101236,BC101237,BC101238,NM_058189 NP_478069,AAK60445,AAI01236,AAI01237,AAI01238,AAI01239,P58556,Q495D5 Hs.534504 MGC120186|MGC120187|MGC120189|PRED54 protein-coding 1347445 C21orf7 chromosome 21 open reading frame 7 16189514,16780588,16381901,15489336,15489334,15168726,14759258,14702039,12477932,11707072,11230166,11076863,10830953 56911 NM_020152,AF124730,AF129075,AL163249,CH471079,AF269161,AF269162,AF269163,AF269164,AK056341,AK122780,AK294287,AK309998,AL713701,AY033900,AY171599,BC008567,EF219157,EF219158,EF219159,EF219160,FB659856 NP_064537,CAB90434,EAX09918,EAX09919,EAX09920,EAX09921,EAX09922,EAX09923,AAF81751,AAF81752,AAF81753,AAF81754,BAG51683,BAG57571,CAD28500,AAK68718,AAO16519,AAH08567,ABN09903,ABN09904,ABN09905,ABN09906,P57077,CAL38552,CAL38649,CAS01782 Hs.222802 HC21ORF7|TAK1L|TAKL|TAKL-1|TAKL-2|TAKL-4 TAK1-like protein|TAK1-like protein 1|TAK1-like protein 2|TAK1-like protein 4|TGF-beta activated kinase protein-coding 1322617 C21orf70 chromosome 21 open reading frame 70 16964243,15635413,15489334,12477932,11790298,11707072,10830953,17207965 85395 NM_058190,AL163301,AL844908,AP001505,CH471079,AF391113,AF391114,BC009341 NP_478070,CAB90492,EAX09367,EAX09368,EAX09369,EAX09370,EAX09371,EAX09372,AAL34504,AAL34505,AAH09341,Q9NSI2,ADQ32641 Hs.410830 PRED56 hypothetical protein LOC85395 protein-coding 1352200 C21orf71 chromosome 21 open reading frame 71 282566 NR_024092,AP000223,AF086441 Hs.384586 PRED21 miscrna 1342798 C21orf72 chromosome 21 open reading frame 72 282568 1349398 C21orf74 chromosome 21 open reading frame 74 12036298 54143 AY077696 1352744 C21orf75 chromosome 21 open reading frame 75 282569 1347302 C21orf77 chromosome 21 open reading frame 77 55264 NM_018277,AK001794 1354052 C21orf79 chromosome 21 open reading frame 79 282570 1344304 C21orf81 chromosome 21 open reading frame 81 12477932,12036297 391267 NR_027270,AP001466,AP001634,AF426257,BC036580,BC043199,BC063278 AAM53513,Q8NFU9 Hs.364456 MGC44241 pseudo 1353720 C21orf82 chromosome 21 open reading frame 82 15489334,14702039,12477932,12036297,11181995 114036 NR_027266,NR_027267,CH471079,AF426258,AK092704,BC093749,BC111996,AP000316 P59036,EAX09792,EAX09793,AAM53514 Hs.720230 FLJ35385|MGC138201 miscrna 1348308 C21orf84 chromosome 21 open reading frame 84 15489334,12477932,12036297 114038 NR_026863,AP001048,AP001049,CH471079,AF426261,BC107109 EAX09488,EAX09489,EAX09490,EAX09491,EAX09492,AAM53517,P59037 Hs.592161 MGC129789 miscrna 1348638 C21orf86 chromosome 21 open reading frame 86 12036297 257103 NM_153454,AF426264 1345843 C21orf87 chromosome 21 open reading frame 87 12036297,12477932 257357 AF064861,CH471079,AF426265,BC130301,BC130303,AW000939,BM553164,NR_033800 EAX09662,EAX09663,AAM53521,AAI30302,AAI30304,P59051 Hs.190548 C21orf87 miscrna 1343351 C21orf88 chromosome 21 open reading frame 88 16344560,15489334,12477932,12036297,11181995 114041 NR_026542,NR_026543,AF064860,CH471079,AF426266,AF426267,AK129590,BC062296,BC080530,BC119737,BC119738,BG751912,DA218783 EAX09633,EAX09634,EAX09635,EAX09636,AAM53522,AAM53523,BAC85189,P59052,Q6ZPC3 Hs.375120 FLJ26079 miscrna 1351562 C21orf89 chromosome 21 open reading frame 89 12036297 114042 P59042 AF426268 AAM53524,P59042 Hs.653520 protein-coding 1347547 C21orf90 chromosome 21 open reading frame 90 16344560,15489334,12477932,12036297 114043 NR_026547,NR_026548,AP001066,CH471079,AF426269,AF426270,BC016690,BC064517,BC101650,BC101654,DA908807 EAX09421,AAM53525,AAM53526,P59090 Hs.592163 MGC126699|MGC126703 miscrna 1352771 C21orf91 chromosome 21 open reading frame 91 16344560,16189514,14702039,12815627,12477932,9828130,9373149,8125298 54149 NM_001100421,NM_001100420,NM_017447,AL109761,CH471079,AF239726,AJ227876,AK023825,AK225123,AK314471,BC015468,BF739854,CR457317,CR749496,DA215855,DB066982 NP_001093891,NP_001093890,NP_059143,EAX10020,EAX10021,EAX10022,AAF44695,BAB14691,BAG37077,AAH15468,CAG33598,CAH18319,Q68DA1,Q6IA38,Q9NYK6 Hs.293811 C21orf14|C21orf38|DKFZp781D1223|EURL|YG81 OTTHUMP00000083239|early undifferentiated retina and lens|protein EURL homolog protein-coding 1345949 C21orf93 chromosome 21 open reading frame 93 12036297 246704 NM_145179,AF427488 1350860 C21orf94 chromosome 21 open reading frame 94 15489334,12477932,12036297 246705 NR_027246,AJ006995,CH471079,AF427489,BC126226,BC126230,CB049373 EAX09944,AAM53528,P59092 Hs.505079 miscrna 1344056 C21orf96 chromosome 21 open reading frame 96 16780588,14702039,12477932,10830953 80215 BC117305,NR_026812,AF015262,AK024509,AW001989 Q9H7H1,BAB14918 Hs.672131 FLJ20856 miscrna 1347523 C21orf97 chromosome 21 open reading frame 97 AK024977 1344415 C21orf99 chromosome 21 open reading frame 99 17114284,15489334,12477932,12036297 149992 NR_026916,AJ239321,AP001464,AF427490,BC036510,BC126176,BC126178,DQ179138,DQ179139,DQ179140,DQ179141 AAM53529,ABB05089,P59093 Hs.558645,Hs.579474 C21orf99|CT85|CTSP-1|CTSP1 pseudo 1350477 C22orf10 chromosome 22 open reading frame 10 414351 1346389 C22orf12 chromosome 22 open reading frame 12 66034 AB050770 1353154 C22orf13 chromosome 22 open reading frame 13 737633 15489334,14702039,12477932,17207965 737633 83606 NM_031444,AB049215,AP000356,CH471095,AK024723,AK025242,AK054681,AK098754,AK294972,AK296893,BC002924,BC004144,BC015685,BC041568,BC053529,BC070109,BG773056,CR605963 NP_113632,BAB68411,EAW59665,EAW59666,EAW59667,EAW59668,EAW59669,BAB70791,BAG58044,BAG59452,AAH02924,AAH53529,AAH70109,Q7Z629,Q96NT3,ADQ31918 Hs.9850 LLN4|MGC1842 CG13760 gene product [Drosophila melanogaster] homolog|OTTHUMP00000198388|chromosome 22 open reading frame 13 protein-coding 1349066 C22orf15 chromosome 22 open reading frame 15 16344560,15461802,14702039,12477932,10591208,8889548 150248 AB050773,AP000348,AP000349,CH471095,AK093880,BC113450,BC113452,BU584544,BU739625,CR456371,DB200363,NM_182520 NP_872326,BAB83035,EAW59599,EAW59600,EAW59601,AAI13451,AAI13453,CAG30257,Q14D93,Q8WYQ4,CAK54507,CAK54806 Hs.116254 FLJ36561|N27C7-3 hypothetical protein LOC150248 protein-coding 1345156 C22orf17 chromosome 22 open reading frame 17 440829 XM_496530 B8ZZ34,XP_496530 Hs.526704 C22orf17|Orf26 shisa homolog 8 (Xenopus laevis)|transmembrane protein 46-like protein-coding 1351784 C22orf23 chromosome 22 open reading frame 23 15489334,15461802,14702039,12477932,11237012 84645 NM_032561,AL031587,CH471095,AF324466,AK057349,BC031998,CR456440 NP_115950,CAI18965,CAQ06633,CAQ06634,EAW60200,EAW60201,AAK07640,BAB71442,AAH31998,CAG30326,Q9BZE7,CAK54469,CAK54768 Hs.517612 EVG1|FLJ32787|dJ1039K5.6 OTTHUMP00000198220|OTTHUMP00000198221|hypothetical protein LOC84645 protein-coding 1602005 C22orf24 chromosome 22 open reading frame 24 10591208 25775 NM_015372,CH471095,Z82248,AJ704765,AJ704766,AK294232,AK315264,AL050256 NP_056187,EAW60000,CAI18786,CAG28925,CAG28926,BAH11707,BAG37681,CAB43358,Q9Y442 Hs.627602 HSN44A4A hypothetical protein LOC25775 protein-coding 1606461 C22orf25 chromosome 22 open reading frame 25 15489334,15461802,14702039,12477932 128989 AK301054,NM_152906,AC005663,AC006547,CH471176,AK092484,AK289862,AK295210,AK297075,AK297922,AK298593,AK301366,AK309398,AK311676,AK316020,AK316056,AL713640,BC041339,CR456355,CR591827,CR594151,CR602031,CR610806,CR622984,CR627452 NP_690870,EAX03001,EAX03002,EAX03003,EAX03004,EAX03005,EAX03006,BAC03902,BAF82551,BAH12013,BAH12491,BAH12691,BAH12819,BAH13398,BAH13466,BAH14391,BAH14427,CAD28454,AAH41339,CAG30241,CAH10533,Q6AHY1,Q6ICL3,CAK54496,CAK54795 Hs.474233 DKFZp761P1121 OTTHUMP00000197694|OTTHUMP00000197697|OTTHUMP00000197727|OTTHUMP00000197729|OTTHUMP00000197731|OTTHUMP00000198369|hypothetical protein LOC128989 protein-coding 1602476 C22orf26 chromosome 22 open reading frame 26 16344560,14702039 55267 NM_018280,AL121672,CH471138,AK001807,AK096201,AU134173 CAQ07675,NP_060750,EAW73396,EAW73397,BAA91920,Q9NV39,AAI52897,AAI56804 Hs.567529 FLJ10945 putative uncharacterized protein C22orf26 protein-coding 2303852 C22orf27 chromosome 22 open reading frame 27 16344560,15489334,14702039,12477932 150291 NR_026920,AC004542,CH471095,AI023837,AK093120,AK098685,BC042980,BC065553,BC117160,BC117186,DB038414 EAW59920,BAC04061,BAC05377,Q8N0Y4,ACE87295,ACE87299,ACE86614,ACE86618 Hs.592202 FLJ35801 miscrna 1605075 C22orf28 chromosome 22 open reading frame 28 15163412,5163412,20308539,16236267,15489334,15461802,12529303,12477932,11042152,10931946,10591208 51493 NM_014306,AL021937,CH471095,AF155658,AF161466,AK297826,AK297908,AK301945,AK312503,AL050255,AL137272,BC000151,BC002970,BC010308,BC016707,BU615556,CR456450,CR457175,CR591502,CR595204,CR597852,CR602136,CR602149,CR604247,CR609867,CR611762,CR612617,CR619857,CR619885,DC396330 NP_055121,CAB38260,EAW60021,AAF67477,AAF29081,BAG60162,BAG60227,BAG63363,BAG35405,CAB43357,CAB70670,AAH00151,AAH02970,AAH10308,AAH16707,CAG30336,CAG33456,Q9Y3I0,ABM81857,ABM85018,CAQ52571,CAQ52572 Hs.474643 DJ149A16.6|HSPC117|RP1-149A16.6 ankyrin repeat domain 54|hypothetical protein LOC51493|novel protein HSPC117 protein-coding 1606220 C22orf29 chromosome 22 open reading frame 29 12477932,9373149,8125298,18029348,16344560 79680 NM_024627,AC000076,CH471176,AK024778,AK026924,AK225088,AK291262,AL832509,BC008696,BC011679,BX640785,BX640969,BX640998,CR607852,DA182195,DA757523 NP_078903,EAX03018,EAX03019,BAB14998,BAF83951,AAH11679,CAE45875,CAE45984,CAE46001,Q7L3V2 Hs.105642 FLJ21125 OTTHUMP00000196853|OTTHUMP00000197843|hypothetical protein LOC79680 protein-coding 1604500 C22orf30 chromosome 22 open reading frame 30 16344560,15461802,14702039,12477932,20379614,17207965 253143 NM_173566,AC005004,AL031255,CH471095,AK055930,AK090566,AK123082,AK130944,BC040859,BX647272,CD697995,CT841517,DA861907 NP_775837,CAI22445,CAI22448,EAW59992,EAW59993,EAW59994,EAW59995,BAC85533,BAC85470,AAH40859,CAJ86447,Q5THK1,ADQ33107 Hs.438906 C22orf30|DKFZp781P2328|FLJ23059|FLJ31368|FLJ33247|MGC50372|RP4-694E4.2 hypothetical protein LOC253143 protein-coding 1604374 C22orf31 chromosome 22 open reading frame 31 20379614,10591208,12477932,18029348,15489334,15461802,12529303 25770 NM_015370,AL021393,CH471095,AL035364,BC074758,BC126262,BC126264,CR456405 ADR82916,ADR82921,NP_056185,CAB62958,EAW59772,CAA23017,AAH74758,AAI26263,AAI26265,CAG30291,O95567,ABZ92316 Hs.50891 HS747E2A|bK747E2.1 hypothetical protein LOC25770 protein-coding 1602445 C22orf32 chromosome 22 open reading frame 32 12477932,15461802,14702039,20877624 91689 NM_033318,AL021878,CH471095,Z82192,AK095636,AK312142,AL449243,BC024237,CR456453,CR596524,CR612282,CR617408 NP_201575,CAI19952,EAW60488,CAI19711,BAG35078,CAC15000,AAH24237,CAG30339,Q9H4I9 Hs.306083 DDDD|dJ186O1.1 OTTHUMP00000199678|hypothetical protein LOC91689 protein-coding 1606105 C22orf33 chromosome 22 open reading frame 33 12477932,15461802 339669 NM_178552,CH471095,Z73420,Z82180,BC042635,CR456416,BE502000,BI827796,DB447439,NM_001163857,HC007162,HC044573 CAQ08659,NP_848647,EAW60128,EAW60129,EAW60130,CAI18768,CAI18770,AAH42635,CAG30302,O43247,NP_001157329,CAQ08658,CBH19386,CBH30616 Hs.124502,Hs.721110 EAN57|MGC35206|cE81G9.2 OTTHUMP00000197754|OTTHUMP00000197755|protein EAN57 protein-coding 2303885 C22orf34 chromosome 22 open reading frame 34 12477932 348645 NR_026997,Z82189,Z97192,AK124962,AK126430,BC048207,BC118575,BM051939 CAI20086,CAO03381,BAC86548,Q6ZV56 Hs.133159 miscrna 1606646 C22orf36 chromosome 22 open reading frame 36 18940312,15489334,14702039,12477932 388886 NM_207644,AP000356,CH471095,AK097054,BC017595,BC032388,BC108684,BI544432,CR613314,CR614356,DB535827 NP_997527,EAW59674,EAW59675,EAW59676,BAC04937,AAH17595,AAH32388,AAI08685,Q2VPJ9,Q8WVQ4 Hs.113314 MGC131773 leucine-rich repeat-containing protein C22orf36 protein-coding 1606462 C22orf39 chromosome 22 open reading frame 39 12477932,15461802,14702039 128977 NM_173793,AC000068,CH471176,AK095271,AK290073,BC030758,BC046204,BC062599,CR456339,CR599972,CR603677,AI379685,BX337505,BX648073,CR618542,NM_001166242 NP_776154,EAX03039,EAX03040,EAX03041,BAF82762,AAH62599,CAG30225,Q6P5X5,NP_001159714 Hs.659565 DKFZp686I08210|MGC74441 OTTHUMP00000196398|hypothetical protein LOC128977 protein-coding 1604737 C22orf40 chromosome 22 open reading frame 40 15461802,12477932 150383 NM_207327,AL078611,CH471138,AK127072,AW085176,BC036462,BC045796,BC067871,BX648331,CR456415,CR598840,CR600118,CR613320,CR617183,CR617709,CR621136 NP_997210,EAW73406,EAW73407,EAW73408,EAW73409,AAH45796,AAH67871,CAG30301,Q6ICF3,Q6NVV7 Hs.103110,Hs.592209 OTTHUMP00000197571|hypothetical protein LOC150383 protein-coding 2303881 C22orf41 chromosome 22 open reading frame 41 19323366,15489334,12477932 644186 NM_001123225,AX971765,CH471138,BC127859,BC127860,EU082028 NP_001116697,CAF16873,EAW73567,AAI27860,AAI27861,ABU52998,A1L190 Hs.535660 THEG2 hypothetical protein LOC644186|testis highly expressed gene 2 protein|testis highly expressed protein 2|uncharacterized protein C22orf41 protein-coding 1604988 C22orf42 chromosome 22 open reading frame 42 15461802,12477932 150297 NM_001010859,AL008723,CH471095,Z83839,BC040263,CR456485 NP_001010859,CAI23289,EAW60007,EAW60008,CAI19488,CAG30371,Q6IC83,AAI39846 Hs.426551 RP1-127L4.6|dJ90G24.6 chromosome 22 open reading frame 42 protein-coding 1602719 C22orf43 chromosome 22 open reading frame 43 20237496,16344560,15461802,12477932,11230166 51233 DB052993,NM_016449,AP000346,CH471095,AK310349,AL080197,BC056888,BC063390,CR456370 NP_057533,EAW59585,EAW59586,EAW59587,CAB75693,AAH56888,CAG30256,Q6PGQ1,ACE87676,ACE86987 Hs.517466 MGC33025|MGC75009 putative uncharacterized protein C22orf43 protein-coding 3129815 C22orf45 chromosome 22 open reading frame 45 12477932,14702039,16344560,19726446 646023 AK091970,AP000355,BC045098,CH471095,DA917327,DB449907,NR_028483,NR_028484 EAW59659,P86434 Hs.712771 FLJ34651 miscrna 1312287 C22orf9 chromosome 22 open reading frame 9 17353931,15489334,15461802,15324660,14702039,12477932,10591208,10231032,9110174,8619474,19615732 23313 NM_001009880,NM_015264,AL008718,CH471138,AB023147,AI830875,AK025608,AK094359,AK094937,AK124648,AK297058,AK309015,AK315883,AY007105,BC016882,BC038414,BC053595,CR456402 NP_001009880,NP_056079,CAI17946,CAQ08664,CAQ08665,CAQ08666,CAQ08667,CAQ08668,EAW73374,EAW73375,EAW73376,BAA76774,BAG52960,BAC85917,BAH12486,BAF98774,AAH16882,AAH38414,AAH53595,CAG30288,Q6ICG6,Q8IUY4,CAK54391,CAK54690 Hs.592207 OTTHUMP00000199522|OTTHUMP00000199524|hypothetical protein LOC23313 protein-coding 1351796 C2CD2 C2 calcium-dependent domain containing 2 16780588,15289880,12477932,10830953 25966 NM_015500,NM_199050,AP001619,AP001745,CH471079,AB047784,AB047785,AI143200,AI298951,AK125120,AK128550,AK129520,AL050173,AL833323,BC020927,BC035070,BC062323,CR627455,R13033 NP_056315,NP_950251,BAA95528,EAX09582,EAX09583,BAD74068,BAD74069,BAG54149,BAG54693,BAC85176,CAB43307,AAH62323,CAH10536,Q6P6D1,Q6ZPD4,Q9Y426 Hs.473894,Hs.675058 C21orf25|C21orf258|DKFZp586F0422|DKFZp686O198|MGC71445|TMEM24L C2 domain-containing protein 2|TMEM24 related geme|TMEM24-like protein-coding 1607065 C2CD3 C2 calcium-dependent domain containing 3 16344560,14702039,12477932 26005 NM_015531,AP002392,AP003717,AB231763,AB231764,AK091397,AK092089,AK125894,AL080220,AL833903,BC035599,BC110508,BM460060,CD369754,DB068715,DB078025 NP_056346,BAE46898,BAE17137,BAC03654,BAC03802,BAC86334,CAB45779,CAD38759,AAH35599,AAI10509,Q4AC94,Q8NAU5 Hs.557938,Hs.694798 DKFZp586P0123|FLJ34770 C2 domain-containing protein 3 protein-coding 3563711 C2CD4D C2 calcium-dependent domain containing 4D 12477932 100191040 AK293673,AL589765,BC157847,BC171843,DC305608,NM_001136003 AAI57848,AAI71843,B7Z1M9,BAH11565,NP_001129475 Hs.694717 FAM148D|MGC189742 C2 calcium-dependent domain-containing protein 4D|family with sequence similarity 148, member D protein-coding 1354289 C2orf12 chromosome 2 open reading frame 12 15815621,15489334,12477932 192137 Q8TDM3 XM_944033,AC092153,AL117617,BC065192,BC069687,BC069706,BC069763,BC080620,XM_938663 XP_949126,AAX93094,AAH65192,AAH69687,AAH69706,AAH69763,AAH80620,Q8TDM3,XP_943756 Hs.470412 DKFZp564H0764|HCC-4 protein-coding 1345730 C2orf14 chromosome 2 open reading frame 14 14702039,12477932,11230166 100132708 NR_023391,AC140481,AK093281,AL136789,BC069727,BC069809 CAB66723,Q9H0H9 Hs.710729 DKFZp434F1719|FLJ35962 miscrna 1349020 C2orf15 chromosome 2 open reading frame 15 15815621,15489334,12477932 150590 NM_144706,AC092587,CH471127,AK314133,BC021264 NP_653307,AAX88926,EAX01893,BAG36823,AAH21264,Q8WU43,ABM83537,ABM86777 Hs.352211 MGC29762 OTTHUMP00000203295|hypothetical protein LOC150590 protein-coding 1352942 C2orf16 chromosome 2 open reading frame 16 20705733,17081983,15815621,12477932,11230166 84226 NM_032266,AC074091,CH471053,AL136898,AL834384,BC115376,BC115377,BC140828,CR749335 NP_115642,AAX93198,EAX00566,CAB66832,CAD39047,AAI15377,AAI40829,CAH18189,Q68DN1 Hs.131021 DKFZp434G118|DKFZp781D2023 hypothetical protein LOC84226 protein-coding 1319452 C2orf18 chromosome 2 open reading frame 18 737633 19154410,16303743,16169070,15815621,15489334,12975309,14702039,12477932,9373149,8125298 737633 54978 BC016389,NM_017877,AC011740,CH471053,AK000562,AK025889,AK075164,AK222929,AK296996,AK299598,AY358820,BC005887,BC028081,BC035519,BX647807,BX648017,CR457243,CR613089 NP_060347,AAX93265,EAX00673,EAX00674,EAX00675,EAX00676,BAA91255,BAC11445,BAD96649,BAG59534,BAG61529,AAQ89179,AAH28081,CAG33524,Q8N357 Hs.516034 ANT2BP|FLJ20555 ANT2-binding protein|transmembrane protein C2orf18 protein-coding 1349564 C2orf19 chromosome 2 open reading frame 19 12477932 394261 Q8NEE0 BC031945,NM_001024676,AC016757,CH471063 EAW71142,AAH31945,Q8NEE0,NP_001019847,AAY24334 protein-coding 1347260 C2orf20 chromosome 2 open reading frame 20 394262 BC009491 1343498 C2orf24 chromosome 2 open reading frame 24 17207965,15489334,12477932,10810093,9110174,8619474 27013 AC068946,CH471063,AF070638,AF151815,AK075274,AK314975,AY007160,BC001393,BC012821,NM_015680,BI912613,CR457401,CR600598,CR601240,CR615171,CR616024,CR621433,DB477110 ADQ32736,NP_056495,EAW70684,EAW70685,EAW70686,EAW70687,EAW70688,AAC25393,AAD34052,BAG52100,BAG37474,AAG02008,AAH01393,AAH12821,CAG33682,Q9BV87 Hs.4973 CGI-57 OTTHUMP00000206205|OTTHUMP00000206206|OTTHUMP00000206207|hypothetical protein LOC27013 protein-coding 1353501 C2orf27A chromosome 2 open reading frame 27A 15815621,15489334,12477932,9110174,8619474 29798 NM_013310,AC093724,CH471058,AF038169,AI302788,AI418663,BC071972,BC093716,BC112189 NP_037442,AAX82001,EAX11684,EAX11685,EAX11686,AAB97362,AAH93716,AAI12190,Q580R0 Hs.635289,Hs.655680 C2orf27|MGC138394 OTTHUMP00000162444|hypothetical protein LOC29798 protein-coding 3051032 C2orf27AP1 chromosome 2 open reading frame 27A pseudogene 1 100420811 AC140113,NG_021911 pseudo 1601786 C2orf27B chromosome 2 open reading frame 27B 12477932,17207965 408029 NM_214461,AC103564,BC043584 NP_999626,AAY24065,AAH43584,ADQ33114 Hs.145567 MGC50273 hypothetical protein LOC408029 protein-coding 1323150 C2orf28 chromosome 2 open reading frame 28 This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 17524364,17387583,15815621,15489334,15340161,12975309,12477932,11042152,10948432,8889548,16169070 51374 AW966996,AY358968,BC002846,BC011006,BC021237,BC035850,BI194121,BQ420456,BQ718371,BQ962996,CA450289,CD513162,CF126865,CR591565,CR596120,CR600041,CR602545,CR602915,CR604043,CR607127,CR607502,NM_080592,AC013403,CH471053,AA604432,AB009017,AF077037,AF144055,AF275744,AK291894,NM_016085,NM_001170795 BAF84583,AAQ89327,AAH02846,AAH11006,AAH21237,AAH35850,Q6UW56,NP_057169,NP_542159,AAX93173,EAX00615,EAX00616,EAX00617,EAX00618,EAX00619,BAF80618,AAD27770,AAD31317,AAK69412,NP_001164266 Hs.9527 APR--3|APR-3|APR3|HSPC013|PRO240|p18 OTTHUMP00000201024|apoptosis related protein 3|apoptosis related protein APR-3|apoptosis-related protein 3 protein-coding 1348103 C2orf29 chromosome 2 open reading frame 29 10497265,15815621,15489334,14702039,12477932 55571 NM_017546,AC013722,CH471127,AF103798,AK024221,BC018664,BC064421,BM923954,BX394182,CR611582,CR614528 NP_060016,AAY15088,EAX01821,AAF02418,BAG51272,AAH18664,AAH64421,Q9UKZ1 Hs.593973 C40 hypothetical protein LOC55571 protein-coding 1312440 C2orf3 chromosome 2 open reading frame 3 The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq] 20846247,17474147,17309879,17081983,15815621,15489334,15302935,14702039,12477932,10500253,10480038,2556218,1370479,16341674,16344560,16713569,20189245,20379614 6936 NM_003203,AC005034,CH471053,AB026911,AK097564,BC000853,BC064559,BG506463,BM749635,BQ880304,BU189326,BU852546,BU853933,EF158467,EF158468,EF158469,BU568226,BX109258,DB259435,BU623860,BU628451,DB455842,NM_001201334,NM_001201335 NP_003194,AAY14973,EAW99586,EAW99587,EAW99588,EAW99589,BAA85386,BAG53487,AAH00853,AAH64559,ABO84856,ABO84857,ABO84858,P16383,Q9BVX3,NP_001188263,NP_001188264 Hs.303808,Hs.662279,Hs.710597 DNABF|GCF|TCF9 GC binding factor|GC bindng factor|GC-rich sequence DNA-binding factor|TCF-9|transcription factor 9 (binds GC-rich sequences) protein-coding 1344280 C2orf31 chromosome 2 open reading frame 31 737633 11230166 737633 81561 AL136852 1605634 C2orf34 chromosome 2 open reading frame 34 18234729,16344560,12477932,19575798,20200953,20379614,17207965,20975703 79823 NM_024766,AC012455,AC016703,AC019184,AC067957,CH471053,AK027104,BC029359,BC053733,CR594532,CR604494,CR616776,DA760277,DB461740 NP_079042,AAX93163,AAX88866,EAX00272,EAX00273,EAX00274,BAB15658,AAH29359,AAH53733,Q7Z624,ADQ32074 Hs.468349 CLNMT|CaM KMT|FLJ23451 calmodulin methyltransferase|calmodulin-lysine N-methyltransferase|hypothetical protein LOC79823 protein-coding 1605894 C2orf39 chromosome 2 open reading frame 39 15815621,14702039,12477932 92749 AK057222,AK289953,AK307094,AL833892,BC009488,NM_145038,AC010896,AC093378,CH471053 EAX00688,EAX00689,BAB71385,BAF82642,CAD38748,Q96MC2,NP_659475,AAY14647,AAY15082 Hs.393714 FLJ32660|MGC16372 CG10958-like|hypothetical protein LOC92749 protein-coding 1603606 C2orf40 chromosome 2 open reading frame 40 20017917,18029348,19521989,17786363,17284679,15815621,15489334,12975309,12800218,12477932,20598162,20937111 84417 NM_032411,AC018878,CH471127,CS072958,AF325503,AY358601,BC021742,FB740500 AAY15084,NP_115787,EAX01751,EAX01752,CAI93686,AAG42321,AAQ88964,AAH21742,Q9H1Z8,ABM83338,ABM86552,CAX20415 Hs.43125 ECRG4 OTTHUMP00000203230|OTTHUMP00000203231|augurin|esophageal cancer related gene 4 protein|esophageal cancer-related gene 4 protein protein-coding 1603029 C2orf42 chromosome 2 open reading frame 42 12477932 54980 NM_017880,AC016700,CH471053,AK000565,AK026303,AL136834,BC002825,BC005079 NP_060350,AAX93192,EAW99828,EAW99829,EAW99830,EAW99831,BAA91258,BAB15438,CAB66768,AAH02825,AAH05079,Q9NWW7 Hs.720049 FLJ20558 OTTHUMP00000203977|hypothetical protein LOC54980 protein-coding 1605056 C2orf43 chromosome 2 open reading frame 43 12477932,17207965,21059979,20676098,20379614,20339536 60526 NM_021925,AC012065,AC012361,CH471053,AK025473,AL137397,BC017473,CR598141,CR617559,AK299244,AK299555,AK300494,AK301493,AK316162,AK316204,AK316310 NP_068744,AAX93236,AAY14959,EAX00806,EAX00807,EAX00808,EAX00809,EAX00810,BAB15142,AAH17473,Q9H6V9,ADQ31891,BAG61275,BAG61500,BAG62208,BAG63004,BAH14533,BAH14575,BAH14681 Hs.187823 FLJ21820 hypothetical protein LOC60526 protein-coding 1601962 C2orf44 chromosome 2 open reading frame 44 12029088,17353931,16344560,12477932,16169070,19197348,19596235 80304 NM_025203,NM_001142319,AC104665,CH471053,AF218013,AI800484,AK025598,BC035698,CR602012,CX756689,DB292134 NP_079479,AAY24115,EAX00771,EAX00772,AAG17255,BAB15186,AAH35698,Q9H6R7,NP_001135791 Hs.24624 FLJ21945|PP384 WD repeat-containing protein C2orf44 protein-coding 4108295 C2orf46 chromosome 2 open reading frame 46 12477932,14702039 339789 AC007464,AC092177,AK127578,BC043563,NR_034135 BAC87041,Q6ZSB3 Hs.654316 FLJ45673 miscrna 1603199 C2orf47 chromosome 2 open reading frame 47 20877624,12477932,19176441,17207965 79568 NM_024520,AC097717,CH471063,AK026208,AL832964,BC017959,BQ448209,CR591130,CR622948 NP_078796,AAY24163,EAW70195,EAW70196,BAB15393,CAH56348,AAH17959,Q8WWC4,ADQ32132 Hs.154494 DKFZp666A212|FLJ22555 OTTHUMP00000163659|hypothetical protein LOC79568 protein-coding 1606097 C2orf48 chromosome 2 open reading frame 48 15489334,14702039,12477932 348738 NM_182626,AC007240,CH471053,AK057831,BC093999,BC094001 NP_872432,EAX00967,BAB71592,AAH93999,AAH94001,Q96LS8 Hs.676025 FLJ25102 hypothetical protein LOC348738 protein-coding 1604297 C2orf49 chromosome 2 open reading frame 49 17081983,15815621,15489334,12477932 79074 NM_024093,AC012360,CH471127,AK127661,AK304268,AK307891,BC001310 NP_076998,AAY15011,EAX01763,BAG54545,BAG65131,AAH01310,Q9BVC5,ABM82138,ABM85321 Hs.549577 FLJ45759|MGC5509|asw OTTHUMP00000203145|ashwin protein-coding 1604753 C2orf50 chromosome 2 open reading frame 50 12477932 130813 NM_182500,AC062028,CH471053,AK057872,AK292828,BC120930 NP_872306,EAX00943,EAX00944,BAB71603,BAF85517,AAI20931,Q96LR7 Hs.406894 FLJ25143|MGC149401 OTTHUMP00000147596|hypothetical protein LOC130813 protein-coding 1602971 C2orf51 chromosome 2 open reading frame 51 17091336,16189514,12477932 200523 HC006836,HC044825,NM_152670,AC104134,CH471215,AK058098,AW104588,BC029522,CR607082 CBH19223,CBH30742,NP_689883,AAY24330,EAW77070,BAB71663,AAH29522,Q96LM6 Hs.132104 FLJ25369|TSC21 protein TSC21|testis-specific conserved protein of 21 kDa protein-coding 1605277 C2orf52 chromosome 2 open reading frame 52 12477932 151477 NR_024079,AC017104,CH471063,BC033054 AAY24248,EAW70965,ABM82565,ABM85754 Hs.375211 MGC43122 miscrna 1602815 C2orf53 chromosome 2 open reading frame 53 17207965,16344560,12477932 339779 NM_178553,AC013403,CH471053,AA812952,BC045671,BX118458,DB022743,DB052016,DB336367,HC007168,HC044575 ADQ32954,NP_848648,AAX93171,EAX00625,AAH45671,Q53SZ7,CBH19389,CBH30617 Hs.136555 MGC44505 hypothetical protein LOC339779 protein-coding 1605342 C2orf54 chromosome 2 open reading frame 54 14702039,12477932 79919 NM_001085437,NM_024861,AC104809,CH471063,AK026324,AK055735,AK056601,AK096434,BC125154,BC125155 NP_001078906,NP_079137,AAY24169,EAW71218,EAW71219,EAW71220,BAB15445,BAG51761,BAG53291,AAI25155,AAI25156,Q08AI8 Hs.193745 FLJ22671|MGC150431|MGC150432 hypothetical protein LOC79919 protein-coding 1602270 C2orf55 chromosome 2 open reading frame 55 12477932,19416921,20379614 343990 NM_207362,AC084377,CH471127,BC068277,BM922097,CF593294 NP_997245,EAX01894,EAX01895,AAH68277,Q6NV74 Hs.469398 MGC42367 hypothetical protein LOC343990 protein-coding 1602217 C2orf56 chromosome 2 open reading frame 56 12477932,20406883,20877624 55471 NM_144736,NM_001083946,AC007390,CH471053,AK294240,AK299015,AK302150,AK303555,BC004548,BC012374,BC035265,BC065206,BI334629,BM172474,BX538031,CR609871 NP_653337,NP_001077415,AAY14816,EAX00400,EAX00401,EAX00402,BAG57536,BAG61095,BAG63521,BAG64579,AAH04548,AAH12374,CAD97976,Q7L592 Hs.433466 PRO1853 OTTHUMP00000201362|protein midA homolog, mitochondrial protein-coding 1606945 C2orf57 chromosome 2 open reading frame 57 20379614,12477932 165100 NM_152614,AC104634,CH471063,BC034405,BC063389 NP_689827,AAY24071,EAW70967,AAH34405,AAH63389,Q53QW1,ABM82214,ABM85398 Hs.98104 MGC35154 hypothetical protein LOC165100 protein-coding 1602821 C2orf58 chromosome 2 open reading frame 58 12477932 285154 NR_027252,AC009229,CH471053,BC031410 AAY15040,EAX00378,EAX00380,Q8N0T5,EAX00379 Hs.353894 MGC34824 hypothetical protein mgc34824 miscrna 1604998 C2orf60 chromosome 2 open reading frame 60 15146197,12477932,8889548,20739293,20972222 129450 NM_001039693,NR_004862,AC097717,CH471063,AK095272,AK293064,AK298977,BC025758,BC063502,BC132835,BC136837,BX648265,CN261486,BC144420,BM673915,BX482572,BX647677 NP_001034782,AAY24162,EAW70191,EAW70192,EAW70193,EAW70194,BAC04517,BAF85753,BAG61071,AAH63502,AAI32836,AAI36838,A2RUC4,ADR83121 Hs.204619 FLJ37953|MGC70509|TYW5 jmjC domain-containing protein|jmjC domain-containing protein C2orf60|tRNA yW-synthesizing enzyme 5 protein-coding 1602960 C2orf61 chromosome 2 open reading frame 61 16344560,14702039,20339536,20379614 285051 NM_173649,NM_001163561,AC073283,CH471053,AK097491,DA313162 NP_775920,NP_001157033,AAY24084,EAX00224,EAX00225,BAC05075,Q8N801,AAI72329 Hs.531575 FLJ40172 hypothetical protein LOC285051 protein-coding 1602043 C2orf62 chromosome 2 open reading frame 62 12477932,17207965 375307 NM_198559,AC021016,CH471063,BC052750,CR602769 NP_940961,EAW70610,AAH52750,Q7Z7H3,ADQ33106 Hs.645453 MGC50811 hypothetical protein LOC375307 protein-coding 1606727 C2orf63 chromosome 2 open reading frame 63 12477932,8889548,16344560,14702039,20379614 130162 NM_152385,NM_001135598,AC012358,AC093165,CH471053,AK056000,AK315683,BC029502,BC036908,BM046729,BM968338,DA249479,DA713663 NP_689598,NP_001129070,AAY24030,EAX00111,EAX00112,EAX00113,EAX00114,BAB71069,BAG38048,AAH29502,AAH36908,Q8NHS4,Q96N41 Hs.347014 FLJ31438 OTTHUMP00000200781|OTTHUMP00000200782|OTTHUMP00000201798|hypothetical protein LOC130162 protein-coding 1604134 C2orf64 chromosome 2 open reading frame 64 12477932 493753 NM_001008215,AC010134,CH471127,AK131034,BC047722,CR590322 NP_001008216,AAX93231,EAX01903,AAH47722,Q86WW8,ADR82642 Hs.596537 6330578E17Rik|MGC52110 hypothetical protein LOC493753 protein-coding 1604532 C2orf65 chromosome 2 open reading frame 65 16881047,16189514,12477932,9927484,20549515,20379614 130951 NM_138804,AC005033,AC007387,CH471053,AK126374,AK130161,BC014602,BC025997,AK300188 NP_620159,AAX93225,EAW99609,EAW99610,EAW99611,BAG54315,BAC85295,AAH14602,AAH25997,Q8TC57,BAH13233 Hs.348645 D6Mm5e|FLJ44410 OTTHUMP00000202715|hypothetical protein LOC130951 protein-coding 1602399 C2orf66 chromosome 2 open reading frame 66 12975309,12477932 401027 NM_213608,AC012486,CH471063,AY358249,BC137150,BC137151 NP_998773,EAW70135,AAQ88616,AAI37151,AAI37152,Q6UXQ4 Hs.372069 UNQ6411 IIDS6411|hypothetical protein LOC401027|iids6411 protein-coding 1606446 C2orf67 chromosome 2 open reading frame 67 14702039,12477932,12107410,8889548,16227571 151050 BQ948513,AC006994,AC007038,CH471063,AI679696,AK056911,AK074441,AK124324,AK124963,AK308432,AL133053,BC032837,BC070141,BC090854,BC126155,BC143914,BM974116,BQ441909,NM_152519,CA393360 NP_689732,AAY14880,AAX93088,EAW70475,EAW70476,EAW70477,EAW70478,EAW70479,BAB71308,BAB85085,CAB61379,AAH32837,AAH70141,AAI26156,AAI43915,A0AUZ9 Hs.282260,Hs.591638 FLJ23861|MSL1v2 hypothetical protein LOC151050|male-specific lethal 1 homolog protein-coding 1606379 C2orf68 chromosome 2 open reading frame 68 15146197,14702039,12477932 388969 NM_001013649,AC012454,AC016753,CH471053,AK024174,AK092972,AK124808,AK300003,AK311297,BC057834,BC111483,BU619982,CN303296 NP_001013671,EAW99495,BAC85956,BAG61822,AAI11484,Q2NKX9 Hs.516159 FLJ14112|FLJ35653|MGC131675 hypothetical protein LOC388969 protein-coding 1603539 C2orf69 chromosome 2 open reading frame 69 16344560,14702039,12477932,17207965 205327 NM_153689,AC097717,CH471063,AK096292,BC036456,DA773166 NP_710156,AAY24161,EAW70190,BAC04749,AAH36456,Q8N8R5,ADQ31601 Hs.471040 FLJ38973 hypothetical protein LOC205327 protein-coding 1352558 C2orf7 chromosome 2 open reading frame 7 15498570,15489334,12975309,12477932 84279 NM_032319,AC010913,CH471053,AK312077,AY358605,BC005069,CR593988,CR610884 NP_115695,AAX88901,EAW99742,EAW99743,BAG35013,AAQ88968,AAH05069,Q2Z1P2,Q9BSG0 Hs.61268 MGC13004|PAP21 hPAP21|protease-associated domain-containing glycoprotein 21 kDa|protease-associated domain-containing protein of 21 kDa protein-coding 2298820 C2orf70 chromosome 2 open reading frame 70 14702039 339778 NM_001105519,AC015977,AC108070,CH471053,AK091483 NP_001098989,EAX00681,A6NJV1 Hs.407083 OTTHUMP00000203783|hypothetical protein LOC339778 protein-coding 2298744 C2orf71 chromosome 2 open reading frame 71 20125088,20398884,20398886,14702039,20811058 388939 NG_021427,NM_001029883,CH471053,AK092250 NP_001025054,EAX00517,A6NGG8 Hs.354243 FLJ34931 chromosome 2 open reading frame 71 protein-coding 2298740 C2orf72 chromosome 2 open reading frame 72 16344560,15815621,11752456,9110174,8619474 257407 NM_001144994,AC009407,AF007149,AF070612,AF086098,AV658788,DA141613,DB303203 NP_001138466,A6NCS6 Hs.526596,Hs.551993 OTTHUMP00000204821|hypothetical protein LOC257407 protein-coding 1603909 C2orf73 chromosome 2 open reading frame 73 14702039,12477932 129852 NM_001100396,AC108929,CH471053,AK097617,BC031669,BC126244,BC126246,BC144191,BC144192 NP_001093866,EAX00149,EAX00150,EAX00151,BAC05122,AAH31669,AAI26245,AAI26247,AAI44192,AAI44193,Q8N5S3 Hs.269546 FLJ40298 OTTHUMP00000200611|OTTHUMP00000201054|OTTHUMP00000213115|hypothetical protein LOC129852 protein-coding 2298736 C2orf74 chromosome 2 open reading frame 74 12477932,21102463 339804 NM_001143960,NM_001143959,AC016747,BC014578 NP_001137432,NP_001137431,A8MZ97 Hs.140617 hypothetical protein LOC339804 protein-coding 1606162 C2orf76 chromosome 2 open reading frame 76 12477932,20205591,20379614 130355 AC016736,NM_001017927,CH471103,BC047365,BC062434,BC105805,BC126395,BC126397,BC144012,BC144014,BC171737,CR624749 NP_001017927,EAW95213,AAH47365,AAI05806,AAI26396,AAI26398,AAI44013,AAI71737,Q3KRA6,ADR82800 Hs.99488 AIM29|MGC104437 OTTHUMP00000203621|OTTHUMP00000203622|hypothetical protein LOC130355 protein-coding 2298833 C2orf77 chromosome 2 open reading frame 77 12477932,8889548,20379614 129881 NM_001085447,AC016772,CH471058,AK301851,BC015980,BC065905,BC117445,BQ432665,CB250451 NP_001078916,EAX11265,BAG63293,AAH15980,AAI17446,Q0VFZ6 Hs.370111 OTTHUMP00000205101|hypothetical protein LOC129881 protein-coding 2298835 C2orf78 chromosome 2 open reading frame 78 388960 NM_001080474,AC092653,AC136006,AK125975 NP_001073943,A6NCI8 Hs.456833 COG5373|FLJ43987|hCG1989538 hypothetical protein LOC388960 protein-coding 1606864 C2orf79 chromosome 2 open reading frame 79 12477932,17207965 391356 NM_001013663,AC013459,CH471053,BC073803 NP_001013685,EAX00745,AAH73803,Q6GMV3,ADQ32058 Hs.406607 hypothetical protein LOC391356 protein-coding 2298832 C2orf80 chromosome 2 open reading frame 80 12477932,20080650 389073 NM_001099334,AC016697,CH471063,AW136505,BC035737,DB541912 NP_001092804,EAW70436,AAH35737,Q0P641 Hs.198416 OTTHUMP00000206607|OTTHUMP00000206674|hypothetical protein LOC389073 protein-coding 2298834 C2orf81 chromosome 2 open reading frame 81 15815621 388963 NM_001145054,AC005041,CH471053,BM045416,BX102034 NP_001138526,EAW99682,EAW99683,A6NN90 Hs.445377 hCG40743 Uncharacterized protein ENSP00000290390|hypothetical protein LOC388963 protein-coding 1606085 C2orf82 chromosome 2 open reading frame 82 12975309,12477932 389084 NM_206895,AC016692,CH471063,AY358535,BC035093,BC049848,BC130307,BC130309,CR599614 NP_996778,EAW71021,EAW71022,EAW71023,AAQ88899,AAI30308,AAI30310,Q6UX34 Hs.725362 MGC163179|MGC163181|UNQ830 ASCL830|OTTHUMP00000164373|OTTHUMP00000203465|hypothetical protein LOC389084 protein-coding 1604331 C2orf83 chromosome 2 open reading frame 83 16381901,15489336,14702039,12477932,11230166,11076863 56918 NM_020161,NM_001162483,AC064853,CH471063,AK055355,AL359944,BC131618,CR749679 NP_064546,NP_001155955,AAX93156,EAW70873,EAW70874,CAB95774,AAI31619,CAH18470,Q53S99,CAL38026,CAL38151 Hs.283092 OTTHUMP00000204102|folate transporter-like protein C2orf83 protein-coding 2303337 C2orf84 chromosome 2 open reading frame 84 15815621,15489334,12477932 653140 NM_001040710,AC008073,CH471053,BC050462 NP_001035800,AAY14667,EAX00756,Q86W67,AAH50462 Hs.467868 FLJ30851 OTTHUMP00000200746|hypothetical protein LOC653140 protein-coding 1606110 C2orf85 chromosome 2 open reading frame 85 14702039,12477932 285093 NM_173821,AC131097,CH471063,AK090909,BC113517,BC113519 NP_776182,EAW71299,EAW71300,EAW71301,EAW71302,BAC03544,AAI13518,AAI13520,Q14D33 Hs.376307 FLJ33590|MGC142077|MGC142079 hypothetical protein LOC285093 protein-coding 1603046 C2orf86 chromosome 2 open reading frame 86 18464913,15654087,14702039,12477932,9110174,8619474,19913121,20628086,20671153 51057 NM_015910,NM_001042692,AC009501,AC016734,AC067953,AC074367,AC079353,CH471053,AF131737,AK001849,AK022647,AK055030,AK309028,AK310290,AL833623,BC093752,BC093754,BC143426,BX538331,BX647132 NP_056994,NP_001036157,AAY24358,AAX93096,AAX93089,AAY24034,EAW99964,EAW99965,AAD20026,BAG51100,AAH93752,AAH93754,CAD98100,O95876,Q53RX9,Q53S85,Q53TG5 Hs.414952 BBS15|DKFZp686C12204|fritz|hFrtz OTTHUMP00000201953|OTTHUMP00000201982|OTTHUMP00000201985|WD repeat-containing protein C2orf86 protein-coding 1601946 C2orf88 chromosome 2 open reading frame 88 16344560,16303743,16189514,12477932,17207965 84281 NM_001042521,NM_001042520,NM_001042519,NM_032321,AC010679,CH471058,AK075168,AK313395,BC005083,BU567236,BX648070,DA247977,DA389238 NP_001035986,NP_001035985,NP_001035984,NP_115697,AAX93233,EAX10878,EAX10879,BAG36193,AAH05083,P0C876,Q9BSF0,ADQ32431 Hs.727685 MGC13057 OTTHUMP00000205560|OTTHUMP00000205562|hypothetical protein LOC84281 protein-coding 2840941 C2orf89 chromosome 2 open reading frame 89 12477932 129293 AC010087,AK128325,AK296608,AK309615,BC049209,BC051789,BC073808,CH471053,NM_001080824 AAH51789,BAG59220,EAW99549,EAW99551,NP_001074293,Q86V40 Hs.469134 FLJ46467 hypothetical protein LOC129293 protein-coding 735504 C3 complement component 3 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial infection. [provided by RefSeq] 2314030,2314031,1600604,1580863,1580273 18054386,18039528,17984207,17767156,17762737,17703412,17684013,17634448,17520688,17502296,17498719,17482181,17372315,17322907,17172439,17060630,17051160,17051152,17051150,16893076,16889542,16823297,16809564,16670774,16627066,16570073,16516157,16449793,16355111,16339538,16335952,16301317,16263699,16199891,16177781,16148107,15872081,16148115,15833747,15810889,15749882,15713468,15713467,15648851,15590640,15489226,15383607,15381670,15342556,15278436,15241561,15187133,15090635,15033778,14760718,14702039,14662858,14639503,14563826,14527961,12967641,12942785,12893820,12816955,12761187,12754519,12679444,12645945,12511407,12477932,12165538,12006395,11979403,11939578,11896391,9164946,162484,10085065,279011,3052276,6912277,12878586,15199963,19559392,19505474,19457998,19454698,19407382,19399715,19387462,19344414,19336475,19328844,19265162,19263529,19259132,19258923,19247692,19246358,19234341,19225544,19202148,19196712,19179465,19168221,19164292,19131662,19112495,19048105,19028829,19028820,19022911,19017934,19015224,19005416,18974840,18936151,18854167,18805911,18802120,18796626,18760301,18755462,18702682,18694577,18682851,18671285,18631248,18596911,18585783,18572187,18566738,18562603,18562232,18456336,18434316,18383369,18356838,18325906,18253759,18247123,18206145,18174230,18061265,11813855,11803045,11785295,11773063,11684127,11513971,11387479,11367533,11342658,11086104,11073102,11058592,10946275,10882776,10622723,10610782,10608878,10382758,10358196,10079271,10078261,9988761,9719152,9605165,9596584,9291131,8943712,8845016,8702752,8648130,8416818,7539791,7512600,6203109,6175959,4097977,4062888,3871945,3546307,3488995,3421908,3279119,3260670,2824652,2584723,2579379,2473125,2387584,1976733,1861080,1830068,1717583,1703437,1577777,1531292,1401896,1350678,1323007,1238393,695691,7893437,8630395,8471312,9544576,7535292,7911492,7642209,7590866,11884542,7961791,20089077,20188594,20951140,20926033,21205667,20861866,20862287,20888482,20841369,20498262,20453728,11854358,8406564,20817881,20385826,20173020,19913121,20576771,20603037,20628086,20628624,20664795,16452172,16530040,18039777,19117936,19423540,19503104,19549636,19590060,19661236,19665237,19670317,19680263,19694644,19703145,19767107,19773279,19797206,19823576,19825847,19828715,19834535,19843088,19850835,19861685,19899988,19913840,19939777,19948975,20091675,20104494,20105310,20109314,20139276,20139773,20157618,20237496,20238042,20378178,20379614,20381870,20385819,20395963,20406964,20438785,20503287,20513133,20523265,20105190,20644161,20852386 2314030,2314031,1600604,1580273 718 NM_000064,NG_009557,AC008760,AY513239,CH471139,CQ985770,J04763,M63423,AI758500,AK094728,AK304071,BC022897,BC063852,BC150179,BC150200,BC150299,BP201387,BP349355,CR599189,CR619237,K02765,M55658 NP_000055,AAR89906,EAW69070,EAW69071,CAI46844,AAA35722,BAG64978,AAI50180,AAI50201,AAA85332,P01024,Q6LDJ0 Hs.529053 AHUS5|ARMD9|ASP|CPAMD1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1|acylation-stimulating protein cleavage product|complement C3|complement component C3 protein-coding 1353843 C3AR1 complement component 3a receptor 1 1580863 11044372,10725738,10358194,10340761,9725198,9694514,9373149,9221749,8605247,8125298,18577758,8702752,10571060,8765043,8898085,19344414,19247692,19005416,18538384,17498719,17472841,17234193,16778800,15489334,15356170,15278436,15067069,15039137,12871936,12511407,12477932,11412308,11342658,11160252,20484595 719 NM_004054,AB065870,AC006511,AY268431,AY455929,CH471116,AK223388,AK290242,AK312458,BC020742,CR590169,CR591233,CR601349,CR609272,CR623914,U28488,U62027,Z73157 NP_004045,BAC06088,AAP23198,AAR13862,EAW88640,EAW88641,BAD97108,BAF82931,BAG35365,AAH20742,AAC50374,AAC50657,CAA97504,Q16581,Q53FA1,ABM82930,ABM86123,ABM87839 Hs.591148 AZ3B|C3AR|HNFAG09 C3a anaphylatoxin chemotactic receptor|C3a-R|complement component 3 receptor 1 protein-coding 1343619 C3CER1 chromosome 3 common eliminated region 1 9408748,10610706 23739 1603837 C3P1 complement component 3 precursor pseudogene 16712791,15060002,12477932,11752456 388503 NR_027300,AC020931,CH471106,AK131489,AW827199,CB162385,DT932550 EAW84063,EAW84064,EAW84065,BAD18634,Q6ZMU1 Hs.655363 CPLP pseudo 1351318 C3orf1 chromosome 3 open reading frame 1 20877624,21048031,11256614,16381901,15489336,15489334,12975309,12477932,11230166,11092749,11076863,9373149,8125298,16712791,19019082,20413980 51300 NM_016589,AC073352,CH471052,AF139077,AF210057,AK026250,AK225954,AL136622,AL390077,AL390090,AL390094,AY358633,BC012341,BG705703,CB105366,CR457158,CR533524,CR591661,CR598226,CR600956,CR601243,CR609519,CR611920,CR619583 NP_057673,EAW79566,EAW79567,EAW79568,EAW79569,AAF62372,AAG43510,CAB66557,CAB98201,CAB98212,CAB98251,AAQ88996,AAH12341,CAG33439,CAG38555,Q9NPL8,CAL38508 Hs.477287 FLJ22597 M5-14 protein|OTTHUMP00000215142|transmembrane protein C3orf1 protein-coding 1352437 C3orf10 chromosome 3 open reading frame 10 12181570,9463375,8605018,17311301,15489334,15048733,14695531,12477932,19576655,19764026 55845 NM_018462,AC034193,CH471055,AF161418,AF220047,AK290580,AK312155,AY148219,BC001067,BC007929,BC019303,BC061515,CR599658,CR605267,CR607817,CR621273,CR624427,AY148220 NP_060932,EAW64060,EAW64061,EAW64062,AAF28978,AAF67640,BAF83269,BAG35089,AAN60161,AAN60162,AAH01067,AAH07929,AAH19303,Q8WUW1,Q9HB48,Q9NZ47,ABM83882,ABM87202,ABW03861 Hs.649307,Hs.707283 HSPC300|MDS027|hHBrk1 Brk1-like|probable protein BRICK1 protein-coding 1347639 C3orf14 chromosome 3 open reading frame 14 737633 15489334,12477932,10931946,17207965,20379614 737633 57415 AC092502,CH471055,AF236158,AK310431,AK313915,BC017772,NM_020685 NP_065736,EAW65400,EAW65401,EAW65402,AAG09750,BAG36637,AAH17772,Q9HBI5,ADQ32108 Hs.47166 HT021 OTTHUMP00000213297|OTTHUMP00000213298|hypothetical protein LOC57415 protein-coding 1346781 C3orf15 chromosome 3 open reading frame 15 15863901,14702039,14551891,12692006,12477932,12223483,11701469,8889548 89876 NM_033364,AC069444,AC117466,AF364606,AB063296,AB063297,AB063298,AF440403,AF497717,AK055558,AK289914,AK294413,AK302699,AK303997,AK309317,AK311599,AL133066,BC035248,BC126394,BU689679,BX647600,CA950011,CB241685,CR749242,DB445414 ADR83405,NP_203528,BAB60902,BAB60903,BAB60904,AAP97317,AAM19218,BAG51535,BAF82603,BAG57663,BAG63926,BAG64914,CAB61389,AAH35248,AAI26395,CAH18098,Q4G0Y0,Q7Z4T9,Q9UFB4 Hs.341906 AAT1|AAT1alpha|DKFZp781A2221 AAT-1|AAT1-alpha|AMY-1-associating protein expressed in testis 1|MYCBP-binding protein protein-coding 1348688 C3orf16 chromosome 3 open reading frame 16 14702039,12477932,8889548 389161 NM_001144960,AC069216,AK027233,AK098078,AK304359,BC171805,BU686654 NP_001138432,BAG53578,BAG65200,A6NFN9 Hs.665988 FLJ40759 OTTHUMP00000216004|hypothetical protein LOC389161 protein-coding 1352471 C3orf17 chromosome 3 open reading frame 17 737633 16565220,15489334,14702039,12477932,19615732 737633 25871 NM_015412,NR_027794,NR_027796,AC074044,CH471052,AK024325,AK092546,AK293218,AK295165,AK295954,AK300811,AK301161,AK304022,AK304083,AL117573,AL537045,BC014673,BC056663,BC067743,BM152568,CR599053,CR613168,CR620903,CR622802,CR749341 NP_056227,EAW79648,EAW79649,EAW79650,EAW79651,BAB14885,BAG56757,BAG58177,BAG58735,BAG62467,BAG62751,BAG64937,BAG64990,CAB55998,AAH67743,CAH18194,Q6NW34,ACE87196,ACE86517,ACE87397,ACE86712 Hs.591288 DKFZp434F2021|NET17 hypothetical protein LOC25871 protein-coding 1343802 C3orf18 chromosome 3 open reading frame 18 737633 17207965,16344560,20205591,15489334,12477932 737633 51161 AA716515,AA908974,DA504094,DA535127,DB027651,DB166816,NM_001171740,NM_001171741,NM_001171743,NM_016210,AC096920,CH471055,AF188706,AK124438,AK130227,AK308074,AK309486,AK311093,AK313128,AL833938,BC034766 ADQ32861,NP_001165211,NP_001165212,NP_001165214,NP_057294,EAW65122,EAW65123,EAW65124,AAF01050,BAG54038,BAC85307,BAG35948,CAD38793,AAH34766,Q6ZP18,Q9UK00 Hs.517860 G20 OTTHUMP00000210812|OTTHUMP00000210813|OTTHUMP00000210815|OTTHUMP00000210817|hypothetical protein LOC51161 protein-coding 1348248 C3orf19 chromosome 3 open reading frame 19 737633 20379614,16189514,15489334,15342556,14702039,12477932,11042152 737633 51244 NM_016474,AC090952,CH471055,AF151046,AI797763,AK091158,AK309525,BC005199,BC013999,BC033897,BF698254,BP195134,CR618061 NP_057558,EAW64203,AAF36132,AAH13999,AAH33897,Q6PII3,Q9P0R4 Hs.517820 FLJ33839 OTTHUMP00000208217|hypothetical protein LOC51244 protein-coding 1343380 C3orf20 chromosome 3 open reading frame 20 737633 11256614,16381901,15489336,15489334,12477932,11230166,11076863,16344560,20379614 737633 84077 NM_032137,AC090957,CH471055,AK131481,AL136781,AL834386,BC030599,BC038406,BG718869,DB064418,NM_001184957,NM_001184958 NP_115513,EAW64204,EAW64205,EAW64206,CAB66715,CAD39049,AAH30599,AAH38406,Q8ND61,CAL37708,CAL37860,CAL38115,NP_001171886,NP_001171887 Hs.661452 DKFZP434N1817|DKFZp434N1817 OTTHUMP00000208215|OTTHUMP00000208216|hypothetical protein LOC84077 protein-coding 1345440 C3orf21 chromosome 3 open reading frame 21 737633 16344560,16303743,15489334,14702039,12477932,20876614 737633 152002 NM_152531,AC090018,AC106705,CH471052,CS051443,AK057046,AK075551,AK092474,BC019036,BC039067,CR591622,CR614018,CR626411,DA575404,AK301133 NP_689744,EAW78028,EAW78029,EAW78030,CAI72215,BAB71355,BAC11694,BAC03899,AAH19036,AAH39067,Q8NBI6,BAG62725 Hs.478741 FLJ35155 OTTHUMP00000208916|hypothetical protein LOC152002 protein-coding 1603560 C3orf22 chromosome 3 open reading frame 22 15489334,14702039,12477932 152065 NM_152533,AC024558,CH471052,AK097841,BC032025,HC007152 NP_689746,EAW79358,BAG53541,AAH32025,Q8N5N4,CBH19381 Hs.178210 MGC34728 hypothetical protein LOC152065 protein-coding 1605240 C3orf23 chromosome 3 open reading frame 23 19684086,20877624,11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 285343 NM_173826,NM_001029839,AC104187,AC134943,CH471055,AK056593,AK123680,AK124087,AK292756,AL832473,AL833118,BC009400,NM_001029840,BC038420,BC047231,BC062587,BC073829,BC101058,BC101059,BC101060,BC101061,DC413255 NP_001025011,NP_776187,NP_001025010,EAW64703,EAW64704,EAW64705,EAW64706,BAG51758,BAG54004,BAF85445,CAD38627,AAH38420,AAH47231,AAH62587,AAH73829,AAI01060,AAI01061,AAI01062,Q8N3R3,CAL38235,AAH09400 Hs.55131 DKFZp313N0621|FLJ41686|MGC119530|MGC119531|MGC119532|MGC119533|TOAG1 hypothetical protein LOC285343|tolerance associated gene-1 protein-coding 1603367 C3orf24 chromosome 3 open reading frame 24 17207965,15489334,12477932 115795 NM_173472,AC034193,CH471055,AF230334,AY248899,BC028122,AW074860,NM_001164839 ADQ31605,NP_775743,EAW64059,AAL05979,AAP20050,AAH28122,Q96PS1,NP_001158311 Hs.190413 MGC40179 hypothetical protein LOC115795 protein-coding 1602666 C3orf25 chromosome 3 open reading frame 25 20379614,15489334,14702039,12477932 90288 AK057281,NM_207307,AL449212,CH471052,AK096099,AK127968,AL133011,BC031104,BC066975 NP_997190,EAW79256,EAW79257,BAG53211,BAG54608,CAH10712,AAH66975,Q6NXP0 Hs.652347 EF-hand domain-containing protein C3orf25|OTTHUMP00000215414 protein-coding 1601841 C3orf26 chromosome 3 open reading frame 26 15489334,14702039,12477932,19160420,19615732,20379614,17207965 84319 NM_032359,BC006512,CR594335,AC024938,AC069222,AC117419,AC129803,AC130887,AK124387,AK291392,AK300704,AK312483,BC006475,NM_001167924 NP_115735,AAH06512,Q9BQ75,BAG54034,BAF84081,BAG62383,BAG35386,AAH06475,NP_001161396,ADQ31877 Hs.655111 MGC4308 OTTHUMP00000213942|OTTHUMP00000213945|hypothetical protein LOC84319 protein-coding 1603406 C3orf27 chromosome 3 open reading frame 27 15067727,9307271 23434 AF008192,NM_007354,AC080005,AF008191,CH471052 EAW79310,AAB65248,O15544,AAI40212,AAI46514,NP_031380,AAB65247 Hs.194283 GR6 protein GR6|putative GR6 protein protein-coding 1606145 C3orf30 chromosome 3 open reading frame 30 14702039,12477932 152405 NM_152539,AC083800,CH471052,AK057421,BC130475,BC144197,DW009752 NP_689752,EAW79578,BAB71478,AAI30476,AAI44198,Q96M34 Hs.271580 FLJ32859 OTTHUMP00000214993|OTTHUMP00000214995|hypothetical protein LOC152405 protein-coding 1602301 C3orf31 chromosome 3 open reading frame 31 20379614,12477932,11230166,15489334,14702039,20877624 132001 NM_138807,AC090939,AC090958,AL136788,CH471055,AK092776,AK126587,AK295839,AK303598,AK309733,AK310993,BC015088,CR615506,HH767946,FB336607 EAW64111,NP_620162,EAW64108,EAW64109,EAW64110,EAW64112,EAW64113,EAW64114,BAG58649,BAG64613,AAH15088,Q96BW9,ACE87687,ACE86998,CBX84726,CAR81248 Hs.475472 DKFZp434E0519|MGC16471 MMP37-like protein, mitochondrial|OTTHUMP00000207657 protein-coding 1603044 C3orf32 chromosome 3 open reading frame 32 9373149,15489334,14702039,12477932,20205943,8125298 51066 NM_015931,AC034187,CH471055,AB024705,AK057972,AK093066,AK122938,AK225925,BC025690,BC052614,CR614756,FB505657,AK300175 NP_057015,EAW63941,EAW63942,EAW63943,BAA76932,BAG52646,AAH52614,Q9Y2M2,CAV32836,BAH13229 Hs.561182 fls485 OTTHUMP00000207052|hypothetical protein LOC51066 protein-coding 1605242 C3orf33 chromosome 3 open reading frame 33 15489334,14702039,12477932,18487146,20515784,20680465 285315 NM_173657,AC104472,CH471052,AF115515,AK055701,AK289890,AL832165,BC042198,BC064898 Q6P1S2,Q96NB5,NP_775928,EAW78745,EAW78746,AAO06952,BAB70989,BAF82579,AAH42198,AAH64898 Hs.350846 AC3-33|FLJ31139 AP-1 activity suppressor|hypothetical protein LOC285315 protein-coding 1602846 C3orf34 chromosome 3 open reading frame 34 16189514,15489334,14702039,12477932,17207965 84984 NM_032898,AC055725,AK058155,AK314070,AY099509,BC007827 NP_116287,BAB71691,BAG36771,AAM47487,AAH07827,Q96LK0,ADQ32381 Hs.282800 MGC14126 hypothetical protein LOC84984 protein-coding 1605538 C3orf35 chromosome 3 open reading frame 35 16344560,16187228,15208675,12771950,12543795,12477932 339883 NM_178339,NM_178342,AC092055,AC136290,CH471055,AJ493599,AJ493600,AJ493601,AJ493602,AJ493603,AJ493604,AJ493605,BC100859,BC100860,BC100861,BC100862,BC112433,BC113895,BC132691,BC133024,BC144376,BC144377,DB349441 NP_848029,NP_848032,EAW64498,CAD42702,CAD42703,CAD42704,CAD42705,CAD42706,CAD42707,CAD42708,AAI32692,AAI33025,AAI44377,AAI44378,Q8IU91,Q8IVJ6,Q8IVJ7,Q8IVJ8,ADR83466 Hs.475945 APRG1 AP20 region protein 1|AP20 region protein1|OTTHUMP00000208938|OTTHUMP00000208939|OTTHUMP00000208941|OTTHUMP00000208942 protein-coding 1602212 C3orf36 chromosome 3 open reading frame 36 15489334,14702039,12477932,9373149 80111 NM_025041,AC080128,CH471052,AK025826,AK225383,BC051274,BC064502,BC082257,BC104161,BC104162 NP_079317,EAW79157,BAB15249,AAI04162,AAI04163,Q3SXR2 Hs.287691 FLJ22173|MGC125760|MGC125761 hypothetical protein LOC80111 protein-coding 1604329 C3orf37 chromosome 3 open reading frame 37 15489334,12477932,9373149,9110174,8889548,8619474 56941 BC050686,BC088363,BU728549,NM_020187,NM_001006109,AC137695,CH471052,AF201934,AK025883,AK225264,AK297501,AK309891,AY007144,BC009993,BC010125 AAH10125,AAH50686,AAH88363,Q96FZ2,ABM84010,ABM87350,NP_064572,NP_001006109,EAW79265,EAW79266,AAF86870,BAG59914,AAH09993 Hs.458320 DC12|MGC111075 OTTHUMP00000215386|OTTHUMP00000215388|OTTHUMP00000215392|chromosome 3 open reading frame 37 protein-coding 1602632 C3orf38 chromosome 3 open reading frame 38 21177773,15489334,12477932 285237 NM_173824,AC128650,CH471110,AK297719,AK313547,AL832398,BC016013,BC024188 NP_776185,EAW68858,EAW68859,EAW68860,BAG60073,BAG36323,CAI46184,AAH24188,Q5JPI3 Hs.476944,Hs.518099 FLJ54270|MGC26717 OTTHUMP00000214138|hypothetical protein LOC285237 protein-coding 1606199 C3orf39 chromosome 3 open reading frame 39 21057379,15489334,14702039,12477932 84892 NM_032806,AC092042,CH471055,AK027472,AK092147,AK124737,BC004508,BC021220,BC060861,CR606513,CR608627 NP_116195,EAW64690,EAW64691,EAW64692,BAB55137,BAC03816,BAG54085,AAH60861,Q8NAT1 Hs.12313 AGO61|FLJ14566 OTTHUMP00000209937|glycosyltransferase protein-coding 1606802 C3orf41 chromosome 3 open reading frame 41 16344560,17974005,20379614,14702039 729085 AK091001,AK311059,AK311069,AL117530,BQ006782,DA262563,NM_001129908,AC092042 BAG52260,CAB55980,NP_001123380,Q9UFP1 Hs.720172 C3orf41|DKFZP434B172|DKFZp434B172|FLJ27464|FLJ33682|MGC141710 OTTHUMP00000209914|OTTHUMP00000209915|hypothetical protein LOC729085 protein-coding 1606766 C3orf42 chromosome 3 open reading frame 42 12477932 84657 NR_026829,AC022384,CH471055,AF085991,AF280797,BC015602,BC132802,BC132804 EAW64073,AAK15459,Q9BXV0 Hs.302131 NAG73 miscrna 1604495 C3orf43 chromosome 3 open reading frame 43 15489334,12477932 255798 NM_001077657,AC092933,AK123917,AK291522,AL833140,AL833443,BC118556,BC118636 NP_001071125,BAG53982,BAF84211,AAI18557,AAI18637,Q147U7 Hs.631933 DKFZp313B0440|FLJ41923|MGC141734|MGC141735 hypothetical protein LOC255798 protein-coding 1605578 C3orf44 chromosome 3 open reading frame 44 19240061,14702039,12477932 131831 NM_152394,AC011317,CH471052,AK093375,AL834214,BC029577,BC036239,HC007164 NP_689607,EAW78824,EAW78825,EAW78826,BAC04146,CAD38896,AAH29577,AAH36239,Q7L0X2,CBH19387 Hs.147128 C3orf44|MGC39662 OTTHUMP00000216694|hypothetical protein LOC131831 protein-coding 1602071 C3orf45 chromosome 3 open reading frame 45 15489334,14702039,12477932 132228 NM_153215,CH471055,AK095927,BC028000 Q8N112,ACE87469,ACE86783,AAH28000,NP_694947,EAW65068,BAC04652 Hs.315177 FLJ38608 hypothetical protein LOC132228 protein-coding 4108511 C3orf46 chromosome 3 open reading frame 46 12477932,15489334 255330 AC078867,BC042038,NR_034158 AAH42038,Q8IVU5 Hs.145435 pseudo 2303848 C3orf47 chromosome 3 open reading frame 47 12477932,8889548,16344560,15489334,14702039,20881960 339942 NR_026991,AC137695,CH471052,AL040547,AL353963,BC093941,BC101739,BM709882,BU732259,DA883170 EAW79263,Q4G0G2 Hs.450096 FLJ34151|MGC126788 miscrna 1604736 C3orf48 chromosome 3 open reading frame 48 12477932 151649 NR_027694,AC097635,CH471055,AK058178,BC021717,BC105097,BC105099,BI463522,BI463551 EAW64304,BAB71705,AAI05098,AAI05100,A8MPX8,Q2M2Y9 Hs.585048 FLJ25449 miscrna 1602072 C3orf49 chromosome 3 open reading frame 49 15489334,15203218,12477932 132200 NR_026866,AC104162,BC015210,CD636567 Q96BT1 Hs.506386 MGC17310 miscrna 1603594 C3orf50 chromosome 3 open reading frame 50 20210993,12477932,11181995,8889548 93556 NR_021485,AC058333,AC092954,AF086185,BC011266,BC103698,BC104748,BC105689,BC105690,AC018356,AC061710,AC112911,AC124893,BI461452,BM716713,CH471052,DN831821,DR000794,DT932647,DT932648 Q0D2K5,EAW78561,EAW78562 Hs.478158,Hs.567961 C3orf50|NCRNA00259 pseudo 1350595 C3orf51 chromosome 3 open reading frame 51 This gene is a putative tumor suppressor gene. [provided by RefSeq] 12477932,9653645 711 NR_024615,AC025572,BC069104,BC069453,BC074933,BC074934,U88965 AAC39932 Hs.667161 C1orf1|Po42 miscrna 1606226 C3orf52 chromosome 3 open reading frame 52 16344560,15737651,15489334,14702039,12477932 79669 NM_024616,AC024887,AC128688,CH471052,AA215562,AK026839,AK298076,AK303588,AY830714,BC017064,BX104180,DB159226,NM_001171747 NP_078892,EAW79681,BAB15569,BAG60364,BAG64604,AAX21411,AAH17064,Q5BVD1,NP_001165218 Hs.434247 FLJ23186|TTMP OTTHUMP00000214425|TPA induced trans-membrane protein|TPA-induced transmembrane protein|novel endoplasmic reticulum transmembrane protein protein-coding 1602414 C3orf53 chromosome 3 open reading frame 53 14702039 285322 Q8N290 XM_928239,AC109586,AK090970 XP_933332,BAC03560,Q8N290 Hs.376725 FLJ33651 protein-coding 1602805 C3orf54 chromosome 3 open reading frame 54 20175189,15489334,12477932,17207965 389119 AC139451,CH471055,BC012170,NM_203370 NP_976248,EAW65022,AAH12170,Q96EL1,ADQ32632 Hs.86674 INKA1|MGC20416 INKA1 protein|hypothetical protein LOC389119 protein-coding 1601717 C3orf55 chromosome 3 open reading frame 55 12477932,8889549 152078 NM_001130002,NM_001130001,NM_001099777,NR_024016,AC084212,CH471052,AA131625,BC010062,BC029129,BC126187,BC126189,BC144066,BX113701 NP_001123474,NP_001123473,NP_001093247,EAW78701,EAW78702,AAH29129,AAI26188,AAI26190,A1A4F0,ADR82799 Hs.259046 OTTHUMP00000213374|putative uncharacterized protein C3orf55 protein-coding 1602415 C3orf56 chromosome 3 open reading frame 56 14702039 285311 NM_001007534,AC112482,AK097460,BC137154,BC137155 NP_001007535,BAC05062,AAI37155,AAI37156,Q8N813 Hs.591284 FLJ40141 protein-coding 1605564 C3orf57 chromosome 3 open reading frame 57 15777716,15489334,12477932,19416851 165679 NM_001040100,AC112491,CH471052,AF458592,AK123348,AK312144,BC037817,BC065208,BC071875,BC107756,BC126236,BU950276,BU950567 NP_001035189,EAW78615,EAW78616,EAW78617,AAM49720,BAC85589,BAG35080,AAH65208,AAH71875,AAI07757,AAI26237,Q6ZWB5,Q8NFR3 Hs.369104 ADMP|MGC104229|SSSPTB OTTHUMP00000214012|likely ortholog of androgen down regulated gene expressed in mouse prostate|small subunit of serine palmitoyltransferase B protein-coding 1603352 C3orf58 chromosome 3 open reading frame 58 17207965,16344560,15489334,14702039,12477932,8889548,18651652 205428 NM_173552,NM_001134470,AC117379,CH471052,AK025119,AK095063,AK095161,AK095400,AK315082,AL832839,BC037293,BM968874,DA760601,DB067725,DC310234,DC310421,AK294020 NP_775823,NP_001127942,EAW78946,EAW78947,EAW78948,BAG52997,BAG53046,BAG37549,AAH37293,Q8NDZ4,ADQ31743,BAH11649 Hs.288954 DIA1|MGC33365 Golgi protein GoPro49 protein-coding 1601820 C3orf59 chromosome 3 open reading frame 59 15489334,14702039,12477932,20379614 151963 NM_178496,AC090025,AC117416,CH471052,AK002025,AK056276,AK290447,BC013123,BC036194,BC045582,BX648517,CR604177 NP_848591,EAW78082,EAW78083,BAG51663,BAF83136,AAH13123,AAH36194,AAH45582,Q8IYB1 Hs.151443 hypothetical protein LOC151963 protein-coding 1602042 C3orf62 chromosome 3 open reading frame 62 17207965,15489334,14702039,12477932 375341 NM_198562,AC121247,CH471055,AK056215,AK096799,AK125642,BC023586,BC032616,BC053629,BC061697 ADQ32598,NP_940964,EAW64967,BAC86231,AAH23586,AAH53629,AAH61697,Q6ZUJ4 Hs.403828 FLJ43654|MGC23381|MGC61663|MGC62079 OTTHUMP00000210721|hypothetical protein LOC375341 protein-coding 1604038 C3orf63 chromosome 3 open reading frame 63 16169070,18726359,20379614,20881960,14702039,12477932,12421765,11149944,10470851 23272 AC099781,CH471055,AB029028,AF180425,AF273053,AK094486,AK307599,BC014569,BC029354,BC070096,BC129987,BI559851,BX648955,NM_001112736,NM_015224 NP_056039,EAW65319,EAW65320,EAW65321,EAW65322,EAW65323,EAW65324,BAA83057,AAD55098,AAG34913,AAI29988,Q9UK61,NP_001106207 Hs.116877 DKFZp686C2456|KIAA1105|RAP140|se89-1 CTCL tumor antigen se89-1|OTTHUMP00000213558|retinoblastoma-associated protein 140 protein-coding 1602633 C3orf64 chromosome 3 open reading frame 64 14702039,12477932,17207965 285203 AC109587,AJ868234,AK023140,AK091089,AK123213,AK126187,AK290356,AK294101,AK304102,AL833467,BC028935,BC060887,BX640821,BX648818,NM_173654 CAI30569,BAG52283,BAC86479,BAF83045,BAG57436,BAG65005,AAH28935,AAH60887,CAE45897,Q5NDL2,Q8N329,NP_775925,ADQ33029 Hs.727670 AER61|FLJ13078|FLJ33770|FLJ41219|MGC34132 AER61 glycosyltransferase protein-coding 1602599 C3orf65 chromosome 3 open reading frame 65 14702039,12477932 646600 NR_027317,AC016961,AC108670,CH471052,AK057462,BC039525,BC041450,BC137313,BC137314 EAW78212,BAB71499,Q96M15 Hs.647949 FLJ32900 miscrna 2303460 C3orf66 chromosome 3 open reading frame 66 14702039,12477932 677779 NR_026767,AC063923,AK123226,BC022563,CX865329 Q6ZWE1 Hs.618669 FLJ41232 miscrna 1605264 C3orf67 chromosome 3 open reading frame 67 12477932,20379614 200844 NM_198463,AC104300,AC104303,AC119424,CH471055,AK124111,AK124920,AK128200,AK296111,BC050317,BC075863,BC132815,BC140002,BC151142 NP_940865,EAW65383,EAW65384,EAW65385,EAW65386,EAW65387,EAW65388,EAW65389,EAW65390,EAW65391,BAC85775,BAC85994,BAG58860,AAH50317,AAI32816,AAI51143,Q499Z6,Q6ZVT6 Hs.368434 FLJ42117|FLJ42930|MGC48416 OTTHUMP00000214328|hypothetical protein LOC200844 protein-coding 1605238 C3orf70 chromosome 3 open reading frame 70 21042317,12477932 285382 NM_001025266,AC007934,AC025573,CH471052,BC137178,BC137179,BC150565 NP_001020437,EAW78232,AAI37179,AAI37180,AAI50566,A6NLC5 Hs.380048 hypothetical protein LOC285382 protein-coding 2298738 C3orf71 chromosome 3 open reading frame 71 16344560,14702039 646450 NM_001123040,AC134028,AK097724,DA461567 NP_001116512,BAC05151,Q8N7S6 Hs.720727 hypothetical protein LOC646450 protein-coding 2298743 C3orf72 chromosome 3 open reading frame 72 401089 NM_001040061,AC092947,AC130416,AK125319,AK304483 NP_001035150,BAC86125,Q6ZUU3,BAH14198 Hs.591303 FLJ52231 FLJ43329 protein|chromosome 3 open reading frame 72 protein-coding 2301260 C3orf73 chromosome 3 open reading frame 73 16641997,15489334 729581 XM_001130701,XM_001130148,XM_001714569,AC112484 XP_001130701,XP_001130148,XP_001714621,A8MYE2 Hs.134807 protein-coding 2301499 C3orf74 chromosome 3 open reading frame 74 100128378 NR_027331,AC115284,AK127958 Hs.640106 miscrna 1606547 C3orf75 chromosome 3 open reading frame 75 15489334,14702039,12477932,9373149 54859 BC014204,CR590643,DQ787088,NM_001031703,AC099778,CH471055,AK000218,AK225721,AK298202,BC000623 AAH00623,AAH14204,ABG79574,Q0PNE2,NP_001026873,EAW64827,EAW64828,BAA91017,BAG60472 Hs.311100 FLJ20211|TMEM103 OTTHUMP00000210419|transmembrane protein 103 protein-coding 2311615 C3orf77 chromosome 3 open reading frame 77 14702039 375337 NM_001145030,AC104187,AK093476,BX648094,HC044769 NP_001138502,BAC04180,Q8N9V7,CBH30714 Hs.132125 FLJ36157 hypothetical protein LOC375337 protein-coding 3234336 C3orf79 chromosome 3 open reading frame 79 152118 AC078788,AF086445,CH471052,NM_001101337 EAW78768,NP_001094807,P0CE67 Hs.58586 putative uncharacterized protein C3orf79 protein-coding 1350864 C4A complement component 4A (Rodgers blood group) This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. [provided by RefSeq] 162484,6019133,12878586,15199963,19167759,19150565,19137635,19062096,19035512,19028829,18636124,18360261,18069935,18058064,18054386,17921792,17728371,17503323,17257223,17212707,16908004,16893076,16439442,16335952,16098595,15998580,15794202,15787745,15166556,15039137,14760718,14574404,12894949,12754519,12480675,12477932,12367531,12226794,12224044,12133986,11803045,11367523,11168010,10529130,10092831,10072631,9725198,8660986,8589688,8473511,8422437,8132574,8012361,7545960,7518568,6978711,6950384,6881182,6832377,6577433,6572000,6559257,6546707,6316164,6167582,3944109,3838531,3696167,3542363,3264881,2883116,2612324,2431902,2304899,1988494,1699796,1573268,11773063,20498262,20936779,20795316,20409594,7391573,17971360,18091514,19135723,19665237,19923011,20139276,20346360,20506482,19913121,20628086 720 NG_004658,NM_007293,NG_011638,AL645922,AL844853,AL929593,AY224378,AY379864,AY379866,AY379880,AY379881,AY379882,AY379883,AY379885,AY379887,AY379888,AY379889,AY379890,AY379891,AY379892,AY379893,AY379894,AY379895,AY379896,AY379897,AY379898,AY379899,AY379900,AY379902,AY379969,AY379970,AY379971,CR936924,L26261,M14823,M14824,M59815,M59816,S58715,U07851,U07852,U07853,U07855,X77491,AB209989,AI065121,BC012372,BC016933,BC063289,BC144546,BC146673,BC146849,BC151204,BC171786,BX452374,K00830,K02403,S81585,V00502,AY379904,AY379906,AY379908,AY379912,AY379913,AY379914,AY379915,AY379916,AY379917,AY379918,AY379919,AY379920,AY379921,AY379922,AY379923,AY379928,AY379929,AY379930,AY379931,AY379932,AY379933,AY379934,AY379935,AY379960,AY379961,AY379962,AY379963,AY379964,AY379965,AY379966,AY379967,AY379968,BX679671 NP_009224,CAQ09284,CAI41869,CAI41782,AAP83249,AAR89091,AAR89093,AAR89107,AAR89108,AAR89109,AAR89110,AAR89112,AAR89114,AAR89115,AAR89116,AAR89117,AAR89118,AAR89119,AAR89120,AAR89121,AAR89122,AAR89123,AAR89124,AAR89125,AAR89126,AAR89127,AAR89130,AAR89173,AAR89174,AAR89175,CAQ07657,AAA20121,AAA35617,AAA52292,AAA51855,AAB26211,AAB63418,AAB63419,AAB63420,AAB63422,CAA54627,BAE06071,AAH12372,AAH63289,AAI44547,AAI46674,AAI46850,AAI51205,AAI71786,AAA36229,AAB59537,AAB36122,CAA23760,P0C0L4,Q30211,Q4LE82,Q5JNX2,Q6P4R1,Q6U2E0,Q6U2E5,Q6U2E7,Q6U2E8,Q6U2F0,Q6U2F3,Q6U2F4,Q6U2F6,Q6U2F8,Q6U2I5,Q6U2K2,Q6U2L1,Q6U2L7,Q6U2L9,Q6U2M5,Q6XMI6,Q96EG2,Q9UM89,Q9UMV1,AAR89134,AAR89136,AAR89139,AAR89140,AAR89142,AAR89141,AAR89144,AAR89143,AAR89145,AAR89146,AAR89148,AAR89147,AAR89150,AAR89149,AAR89155,AAR89156,AAR89157,AAR89158,AAR89159,AAR89160,AAR89161,AAR89162,AAR89164,AAR89165,AAR89166,AAR89167,AAR89168,AAR89169,AAR89170,AAR89171,AAR89172,AAR89132 Hs.534847,Hs.720022 C4|C4A2|C4A3|C4A4|C4A6|C4S|CO4|CPAMD2|MGC164979|RG C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2|C4A anaphylatoxin|OTTHUMP00000216221|Rodgers form of C4|acidic C4|acidic complement C4|complement C4-A|complement component 4a protein-coding 1605129 C4B complement component 4B (Chido blood group) This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq] 19167759,19150565,19137635,19062096,18929826,18927458,18682851,18645500,18365397,18360261,18347532,18315707,18179706,18085389,18065805,18032375,17984207,17921792,17915330,17728371,17503323,17425651,17318071,17257223,17212707,17202363,17015733,16980082,16908004,16893076,16889542,16740002,16504674,16386506,16344560,16098595,15998580,15816885,15787745,15665772,15456488,15203218,15096498,15033778,14989716,14760718,14574404,12907438,12893820,12754519,12480675,12477932,12226794,12224044,11803045,11367523,11341920,11168010,11062289,10946278,10851272,10528211,10383431,10207042,10072631,9759862,8889548,8660986,8575831,8132574,7545960,7525470,6978711,6950384,6881182,6832377,6559257,6546707,6167582,3944109,3840370,3696167,3542363,2883116,2431902,2295627,1988494,1717583,1699796,1088823,7893437,8630395,7911492,7642209,7590866,20795316,20022265,20580617,17971360,18091514,19135723,19505723,19900552,20139276,20452682,20506482,7391573,12878586,19913121,20628086 721 NM_001002029,NG_000013,NG_004658,NG_005163,NG_011639,AF019413,AF092085,AL049547,AL645922,AL662849,AL844853,AL929593,AY343497,AY379860,AY379861,AY379862,AY379863,AY379865,AY379867,AY379868,AY379869,AY379870,AY379871,AY379872,AY379873,AY379874,AY379875,AY379876,AY379877,AY379878,AY379879,AY379884,AY379886,AY379901,AY379903,AY379905,AY379907,AY379909,AY379910,AY379911,AY379924,AY379925,AY379926,AY379927,AY379959,CR753845,U24578,U77886,U77887,AK304564,BM672834,BQ960796,CD624022,DA395398,DA918359,K02404,BX679671,CR936924 NP_001002029,AAB67980,AAC98380,CAB89302,CAQ09289,CAI17475,AAQ99144,AAR89087,AAR89088,AAR89089,AAR89090,AAR89092,AAR89094,AAR89095,AAR89096,AAR89097,AAR89098,AAR89099,AAR89100,AAR89101,AAR89102,AAR89103,AAR89104,AAR89105,AAR89106,AAR89111,AAR89113,AAR89128,AAR89129,AAR89131,AAR89133,AAR89135,AAR89138,AAR89137,AAR89151,AAR89152,AAR89153,AAR89154,AAR89163,CAQ10919,AAA99717,AAK49810,AAK49811,BAG65356,AAA59651,P0C0L5,Q6U2E0,Q6U2E5,Q6U2F3,Q6U2F4,Q6U2F6,Q6U2G0,Q6U2G1,Q6U2H4,Q6U2I5,Q6U2L1,Q6U2L6,Q6U2L7,Q6U2L9,Q6U2M5,Q6VCV8,Q6XMI6,Q96SA7,Q96SA8,Q9UMV1,Q9UNU2,AAI72377,Q6U2M2 Hs.534847,Hs.720022 C4B1|C4B12|C4B2|C4B3|C4B5|C4F|CH|CO4|CPAMD3|FLJ60561|MGC164979 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3|Chido form of C4|basic C4|basic complement C4|complement C4-B|complement C4B1a protein-coding 736103 C4BPA complement component 4 binding protein, alpha This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq] 1580863 16330538,18029348,14718574,19344414,19155499,19076829,18842294,18715646,18556068,18424762,18406463,17579075,17548110,16819837,16335952,15489334,15188402,15179322,12893820,12477932,12135356,11705989,11441101,10383431,9089100,8406448,7806286,7772049,7592941,6222381,4033666,3840370,3378624,3017751,2590215,2352933,2237642,1989602,1833851,12100475,10744423,1534488,20532227,17225862,19417080,19423540,19494311,20022381,20059470,20212171,20237496,20406964,20438785 722 NM_000715,AL445493,CH471100,M62448,M62486,X04284,X04296,AK303793,AK303798,AK313164,BC022312,BQ019292,M31452,X02865,X07853 NP_000706,CAH70782,CAO78186,EAW93500,EAW93501,EAW93502,EAW93503,AAA36506,CAB51244,CAA27839,BAG64750,BAG64753,BAG35982,AAH22312,AAA36507,CAA26617,CAA30701,P04003,Q5VVQ8,ABM82947,ABM86139 Hs.1012 C4BP|PRP C4b binding protein, alpha chain|C4b-binding protein alpha chain|complement component 4 binding protein, alpha chain|complement component 4-binding protein, alpha|proline-rich protein protein-coding 1342759 C4BPAL1 complement component 4 binding protein, alpha-like 1 8406448,2352933 727859 NG_006475,AL445493 C4BPAL1 pseudo 1345971 C4BPAL2 complement component 4 binding protein, alpha-like 2 7806286 724 NG_002761,AL596218,X81360,X81361,X81362 C4BPAL2 pseudo 736875 C4BPB complement component 4 binding protein, beta This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq] 1580863 8325877,14718574,19344414,19284503,18842294,17597997,16710414,16335952,16330538,15967823,15489334,15179322,14702039,12492479,12477932,12193728,9089100,8598458,7561113,20693287,2970465,2300577,2237642,19423540,19494311,20212171,20237496,20379614,20406964,20438785 725 NM_001017365,NM_001017366,NM_000716,NM_001017364,NM_001017367,AL445493,CH471100,EF613556,L11246,U31765,AK092427,AK293379,AK315137,BC005378,BG568018,BM987840,CR598788,CR625432,H63461,L11245,M29964 NP_001017365,NP_001017366,NP_000707,NP_001017364,NP_001017367,CAH70779,CAH70780,CAH70781,EAW93504,EAW93505,EAW93506,ABQ52216,BAG56891,AAH05378,AAA35616,AAB59520,P20851,Q5VVQ7 Hs.99886 C4BP C4b binding protein, beta chain|C4b-binding protein beta chain|OTTHUMP00000034374|complement component 4 binding protein, beta chain|complement component 4-binding protein, beta protein-coding 1351743 C4orf10 chromosome 4 open reading frame 10 12477932,9734812 317648 NR_015453,CH471131,AB000464,AB000465,AB000466,BC020978,BC041605,AL390065 EAW82495 Hs.398178 RES4-24 miscrna 1342528 C4orf11 chromosome 4 open reading frame 11 15218245 439934 NR_024087,NR_024088,AC067942,AC073413,CH471057,AY316301,AY316302 EAX05900,EAX05901,AAR08267,AAR08268,Q6W349 Hs.457189 miscrna 2290199 C4orf12 chromosome 4 open reading frame 12 15580561,14702039,12477932,12136098 404201 NR_015359,AC108021,AJ333364,CH471057,AK124663,AY250185,BC019264,BC033127,BC101193,BC101194,BC101195,BC101196,CR610085 EAX05957,EAX05958,AAP76295 Hs.720920 C4orf12|FBI4|MGC120078|MGC120079 miscrna 1354431 C4orf14 chromosome 4 open reading frame 14 737633 18456285,16380119,15489334,14702039,12477932,16169070,20877624,21106707 737633 84273 NM_032313,AC069307,CH471057,AK074953,AK098215,AK128696,BC004894,CR599445 NP_115689,EAX05518,BAC11311,BAC05262,BAG54713,AAH04894,Q8NC60,ABM82785,ABM85974 Hs.8715 MGC3232|hAtNOS1|mAtNOS1 hypothetical protein LOC84273|mitochondrial nitric oxide synthase|nitric oxide synthase, mitochondrial (putative)|putative ortholog of Arabidopsis mitochondrial nitric oxide synthase protein-coding 1347570 C4orf16 chromosome 4 open reading frame 16 737633 11256614,16381901,16344560,15815621,15775984,15489336,15489334,15144186,12477932,11230166,11076863,8889548,19706427,19965873,20332099 737633 55435 NM_018569,NM_001128426,AC109347,CH471057,AF116612,AI273122,AK310787,AK315299,AL136628,BC009485,BM974015,BX647702,DA463845 NP_061039,NP_001121898,AAY40962,EAX06268,EAX06269,EAX06270,EAX06271,EAX06272,AAF71037,BAG37704,CAB66563,AAH09485,CAH56145,Q63HQ0,CAL37652,CAL37924,CAL38032,CAL38480,CAL38584,ACE87260,ACE86577 Hs.435991,Hs.606210 2C18|C4orf16|GBAR|PRO0971|gamma-BAR AP-1 complex-associated regulatory protein|adapter-related protein complex 1-associated regulatory protein|gamma-1-adaptin brefeldin A resistance protein|gamma1-adaptin brefeldin A resistance protein, gamma-BAR protein-coding 1352720 C4orf17 chromosome 4 open reading frame 17 15489334,14702039,12477932,11230166,9373149,16169070,16344560 84103 AK314711,AL136838,BC069805,BC074759,CR533542,NM_032149,AC083902,AP001960,CH471057,AK093085,AK223345,DB051883 BAG37256,CAB66772,AAH69805,BAD97065,AAH74759,CAG38573,Q53FE4,Q8NA78,NP_115525,EAX06102,EAX06103,BAC04048 Hs.97501 DKFZP434G072|DKFZp434G072 OTTHUMP00000220331|hypothetical protein LOC84103 protein-coding 1605394 C4orf18 chromosome 4 open reading frame 18 16381901,16344560,15489336,14702039,12975309,12477932,11256614,11230166,11076863 51313 NM_016613,NM_001031700,NM_001128424,AC098679,CH471056,AF223468,AF260333,AK095474,AK172805,AK304112,AK315768,AL832589,AL834177,AY358785,BC017701,BC043193,BC045710,BC100016,BX489659,CR457196,CR622045,DA887770 NP_057697,NP_001026870,NP_001121896,EAX04863,EAX04864,AAF64143,AAG44664,BAD18776,BAG65014,BAG38120,CAD38874,AAQ89145,AAH17701,AAH43193,AAI00017,CAG33477,Q6UWH4,Q9H2L6,Q9NYZ0,CAL37418,CAL37582 Hs.567498 AD021|AD036|C4orf18|DKFZp434L142|FLJ23966|FLJ38155 OTTHUMP00000220350|hypothetical protein LOC51313|protein ENED protein-coding 1602474 C4orf19 chromosome 4 open reading frame 19 20379614,16344560,15342556,14702039,12477932,9373149,8125298,20802204 55286 NM_001104629,NM_018302,AC022463,AC027607,CH471069,AI050941,AK001879,AK225192,BC037906,BP220791,CF995148,CR611641,DA684897 NP_001098099,NP_060772,EAW92882,EAW92883,BAA91958,AAH37906,Q8IY42 Hs.107527 FLJ11017 hypothetical protein LOC55286 protein-coding 1602323 C4orf21 chromosome 4 open reading frame 21 17974005,17081983,16344560,15146197,14702039,12477932,11181995,8889548,20332099 55345 NM_018392,AC023886,CH471057,AK002193,AK090556,AK126054,AK299831,AK302613,AL137700,AL708767,BC028584,BC044799,BF056790,BM721145,BX647594,CN297341,DA199760,DB219969,AC106864 NP_060862,EAX06279,EAX06280,EAX06281,BAA92130,BAG52184,BAC86416,BAG61698,BAG63860,CAB70881,AAH44799,Q6ZU11,Q86YA3 Hs.380346,Hs.713663 DKFZp313L226|DKFZp434C0927|FLJ11331|FLJ33237|FLJ44066 OTTHUMP00000163825|OTTHUMP00000218236|OTTHUMP00000219764|prematurely terminated mRNA decay factor-like protein-coding 1606121 C4orf22 chromosome 4 open reading frame 22 12477932,18519826,20379614 255119 NM_152770,AC021127,AC093876,AC093883,AC098822,AC105917,CH471057,AK128642,AY349359,BC034296 NP_689983,EAX05861,EAX05862,EAX05863,EAX05864,EAX05865,BAC87545,AAQ56723,AAH34296,Q6V702,ABM84123,ABM84124,ABM87151,ABM87152,ABM87153,ABM87533,ABM87534 Hs.527104 MGC35043 OTTHUMP00000219240|hypothetical protein LOC255119 protein-coding 1602178 C4orf23 chromosome 4 open reading frame 23 16861910,15815621,15489334,14702039,12477932,8889548 152992 NM_152544,AC104825,AC105345,CH471131,AK022953,AK092387,AK093044,AK096417,BC035655,CR604280,CA450523,CB991944 NP_689757,EAW82337,BAC04031,AAH35655,Q8IYL2 Hs.566191 FLJ12891|FLJ35725 probable tRNA (uracil-O(2)-)-methyltransferase protein-coding 1604986 C4orf26 chromosome 4 open reading frame 26 12477932 152816 NM_178497,AC096759,CH471057,AK074237,AK172776,AK300227,BC061701,BC117342,HC006960 NP_848592,EAX05738,EAX05739,BAB85027,BAD18758,BAG61995,AAI17343,Q17RF5,CBH19285,ADR82804 Hs.24510 FLJ23657 hypothetical protein LOC152816 protein-coding 1606274 C4orf27 chromosome 4 open reading frame 27 11256614,16381901,15489336,14702039,12477932,11230166,11076863,16169070,20379614,16712791 54969 NM_017867,AC106878,CH471056,AK000541,AK090742,AK124036,AL136673,BC010367,BM905677,CB141427,CR606119,CR607563,CR623533,DN990093 NP_060337,EAX04780,EAX04781,BAA91241,CAB66608,AAH10367,Q9NWY4,CAL37758 Hs.406756 FLJ20534|FLJ33423|FLJ42042 hypothetical protein LOC54969 protein-coding 1604791 C4orf29 chromosome 4 open reading frame 29 12477932 80167 NM_001039717,AC099340,CH471056,AK024759,BC034253,BC058847,BC058898,BC075793,BC111400,BC128142,BC128143,BX500590,CR597196 NP_001034806,EAX05190,EAX05191,EAX05192,BAB14990,AAH34253,AAI28143,AAI28144,Q0P651,EAX05189 Hs.445817 FLJ21106|MGC149227|MGC149228 OTTHUMP00000164426|hypothetical protein LOC80167 protein-coding 1606239 C4orf31 chromosome 4 open reading frame 31 16970039,16344560,12975309,12477932,20332099,20379614 79625 NM_024574,AC105254,CH471056,AK026844,AK289615,AY358821,BC019351,BX359842,CR593973,DA807168 NP_078850,EAX05266,BAB15573,BAF82304,AAQ89180,AAH19351,Q8TB73 Hs.709520 FLJ23191 OTTHUMP00000220002|OTTHUMP00000220173|fibronectin type-III domain-containing protein C4orf31 protein-coding 1606723 C4orf32 chromosome 4 open reading frame 32 19380854,18437351,14702039,12477932,20332099 132720 NM_152400,AC093663,AC109347,CH471057,AI634637,AK096689,BC022534,BC041964,BI463956 Q8N8J7,NP_689613,AAY40961,EAX06266,BAC04841,AAH22534 Hs.23439 FLJ39370 chromosome 4 open reading frame 32 protein-coding 1601935 C4orf33 chromosome 4 open reading frame 33 17567985,14702039,12477932 132321 NM_173487,NM_001099783,AC093826,CH471056,AK091022,AK309229,BC016358,BC032582,BE566349,BP871612,BQ549846,BU783470,BX538164,CN483524,CR605621,CR618701 NP_775758,NP_001093253,EAX05161,EAX05162,EAX05163,EAX05164,EAX05165,EAX05166,BAC03568,AAH16358,AAH32582,CAD98044,Q8N1A6 Hs.567679 FLJ33703 OTTHUMP00000220026|OTTHUMP00000220994|hypothetical protein LOC132321 protein-coding 1606130 C4orf34 chromosome 4 open reading frame 34 15231747,15489334,14702039,12477932,17207965 201895 NM_174921,AC021148,AC105427,AC108471,CH471069,AK023351,AK307146,BC008502 NP_777581,EAW92940,EAW92941,EAW92942,AAH08502,Q96QK8,ADQ32370 Hs.576320 FLJ13289 OTTHUMP00000218412|OTTHUMP00000218413|hypothetical protein LOC201895 protein-coding 1604567 C4orf35 chromosome 4 open reading frame 35 16344560,14702039,12477932,19208547,19271754,17207965 85438 NM_033122,AC106884,CH471057,AF380838,AK057459,AK315022,BC034492,BC046111,BX098854,DB027445,HC007196,HC044633 NP_149113,EAX05615,EAX05616,AAK57455,BAB71497,BAG37512,AAH46111,ADQ33118,CBH19403,CBH30646 Hs.120316 C4orf35|CLPH|FLJ32897|NYD-SP26 calcium-binding protein, sperm-specific 1|casein-like phosphoprotein|testis development protein NYD-SP26 protein-coding 1606159 C4orf36 chromosome 4 open reading frame 36 15489334,15342556,14702039,12477932,20379614 132989 AC093827,CH471057,BC016746,BC063410,BP289794,BX090513,NM_144645 NP_653246,EAX05970,AAH16746,Q96KX1 Hs.339646 MGC26744 OTTHUMP00000219442|OTTHUMP00000219445|OTTHUMP00000219447|hypothetical protein LOC132989 protein-coding 1602169 C4orf37 chromosome 4 open reading frame 37 12477932,20379614,17207965 285555 NM_174952,AC018884,AC019077,AC034154,AC073855,AC131949,CH471057,BC036870,BX648305 NP_777612,EAX06066,EAX06067,AAH36870,Q8N412,ADQ33018 Hs.680226 MGC46496 hypothetical protein LOC285555 protein-coding 1602647 C4orf38 chromosome 4 open reading frame 38 14702039,12477932 152641 NR_024008,AC019193,CH471056,AK054839,BC126477,BC126479 EAX04695,BAB70812 Hs.725753,Hs.182635 FLJ30277|FLJ30278|MGC161755|MGC161757 miscrna 1602430 C4orf39 chromosome 4 open reading frame 39 14702039,12477932,17207965 152756 NM_153027,AC106872,CH471056,AK056221,BC022381 NP_694572,EAX04830,BAB71123,AAH22381,Q96MZ4,ADQ32243 Hs.178648 FLJ31659 hypothetical protein LOC152756 protein-coding 1604909 C4orf40 chromosome 4 open reading frame 40 16381901,15489336,11230166,11076863 401137 NM_214711,AC104811,BX484937,BX485867,BX640892,BX640924,BX640997,BX647183,BX647185,BX648724,BX648872,BX648895,BX648896 NP_999876,CAH56124,CAE45962,CAE46000,CAH56126,Q6MZM9,CAL38348,AAI46697 Hs.518795 OTTHUMP00000218951|hypothetical protein LOC401137 protein-coding 1604800 C4orf41 chromosome 4 open reading frame 41 16381901,15489336,14702039,12477932,11230166,11076863,20308539,20562859,16169070,19942856 60684 NM_021942,NM_199053,AC108477,CH471056,AK022778,AK023390,AK026992,AK090489,AK091146,AK096345,AK315057,AL133076,AL136752,AL833451,AL833571,BC022185,BC040530,BC051724,BC139745,BX538044,BX647127,BX648499,CR533553 NP_068761,NP_951008,EAX04686,EAX04687,BAB14240,BAB14556,BAB15617,BAG52291,BAG53267,BAG37533,CAB66686,CAD91169,AAH51724,AAI39746,CAD97983,CAG38584,Q7Z392,CAL38681 Hs.443240 FLJ12716|foigr|gry OTTHUMP00000218693|foie gras|foie gras homolog|gryzun homolog|hypothetical protein LOC60684 protein-coding 1604255 C4orf42 chromosome 4 open reading frame 42 16189514,14702039,12477932 92070 AC092535,AK056133,AK125775,AL390154,BC013775,BC111466,BC120947,BC120948,CB070110,AI523678,NR_033339 AAY40990,BAC86283,AAH13775,AAI11467,AAI20948,AAI20949,Q0VAR9,Q4W5N5,Q96CW7 Hs.561314 MGC149426|MGC149427|MGC21675 miscrna 1605071 C4orf43 chromosome 4 open reading frame 43 14702039,12477932,17207965,20098747,19615732 55319 NM_018352,AC093788,CH471056,AA772718,AK002046,AK298235,AW518118,BC005204,BC011842,BC017418,BU159489,BX370094,CR595986,CR602863,CR605828,CR608348,CR612293,CR620535 NP_060822,EAX04836,EAX04837,BAA92053,BAH12740,AAH11842,Q96EY4,ADQ33172 Hs.267446 FLJ11184|FLJ52950 OTTHUMP00000220342|OTTHUMP00000220343|OTTHUMP00000220345|hypothetical protein LOC55319 protein-coding 1604952 C4orf44 chromosome 4 open reading frame 44 12477932 345222 NM_001042690,AL390059,AL645949,CH471131,AK126094,BC043530 NP_001036155,EAW82473,BAC86436,Q6ZTZ1 Hs.442291 OTTHUMP00000217075|OTTHUMP00000222908|OTTHUMP00000222909|hypothetical protein LOC345222 protein-coding 1602179 C4orf45 chromosome 4 open reading frame 45 16344560,15342556,20379614 152940 NM_152543,AC093700,AC109823,CH471056,AK058100,AK307319,BP369394,DB037602 NP_689756,EAX04851,BAB71665,Q96LM5,AAI72327 Hs.415576 FLJ25371 hypothetical protein LOC152940 protein-coding 1606430 C4orf46 chromosome 4 open reading frame 46 16344560,16303743,14702039,12477932 201725 NM_001008393,AC107219,CH471056,CQ783770,AK027539,AK074948,BC065017,BC094775,DB289388 NP_001008394,EAX04855,CAF86853,BAG51339,BAG52038,AAH65017,AAH94775,Q504U0 Hs.380920 OTTHUMP00000221325|hypothetical protein LOC201725 protein-coding 2298813 C4orf47 chromosome 4 open reading frame 47 15809229,15489334,12477932,20379614 441054 NM_001114357,AC106897,AY947525,BC127739,BC141967,BC141968,BC150574 NP_001107829,AAX21786,AAI50575,A7E2U8 Hs.549398 UPF0602 protein|hypothetical protein LOC441054 protein-coding 2301122 C4orf48 chromosome 4 open reading frame 48 15809229,12477932 401115 NM_001141936,AL132868,AY947524,BC038466,BC047038,BC062790,AI929674,AW157771,BQ129383,CH471131,NM_001168243 CAX14864,NP_001135408,AAX21785,Q5BLP8,EAW82542,EAW82543,NP_001161715 Hs.446474 CHR4_55 OTTHUMP00000205823|hypothetical protein LOC401115 protein-coding 1603194 C4orf49 chromosome 4 open reading frame 49 19325000,12477932,12036975,16565373,19528298,20029029 84709 NM_032623,AC024032,CH471056,AF329088,AF484960,BC037987,BC104173,BC104174,CR620620 NP_116012,EAX05122,AAG59896,AAM09685,AAI04174,AAI04175,Q8TDB4 Hs.710036 CESP-1|HUMMR|MGC125827|MGC125828|OSAP corneal endothelium-specific protein 1|hypoxia up-regulated mitochondrial movement regulator|ovary-specific acidic protein protein-coding 1602802 C4orf50 chromosome 4 open reading frame 50 12477932,20379614 389197 XM_003118524,XM_003119922,XM_003120429,AC092442,AK128339,BC140710 XP_003118572,XP_003119970,XP_003120477,BAC87391,AAI40711,Q6ZRC1 Hs.479065 FLJ46481 chromosome 4 open reading frame 50|hypothetical protein LOC389197 protein-coding 2974931 C4orf51 chromosome 4 open reading frame 51 646603 AC093864,AC107212,NM_001080531 C9J302,NP_001074000 Hs.452865 OTTHUMP00000220285|chromosome 4 open reading frame 51 protein-coding 3418804 C4orf52 chromosome 4 open reading frame 52 12477932,16344560 389203 AC133961,BC006003,BC014348,BC032431,BC040154,BC046171,BC062747,BC086307,C75542,CH471069,DA733575,NM_001145432 AAH06003,AAH32431,EAW92845,NP_001138904,Q8N5G0 Hs.479386 hypothetical protein LOC389203 protein-coding 1350555 C4orf6 chromosome 4 open reading frame 6 This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. [provided by RefSeq] 9016955,18454448,15489334,12477932,8889548 10141 BX094519,D82070,NM_005750,AC004664,CH471131,BC117444,BC117446,BM978917 BAA11534,Q99440,NP_005741,EAW82415,AAI17445,AAI17447,ADR83316 Hs.177972 aC1 OTTHUMP00000217284|chromosome 4 open reading frame 6|expressed in neuroblastoma protein-coding 1353265 C4orf7 chromosome 4 open reading frame 7 FDCSP is expressed by follicular dendritic cells (FDCs) and activated leukocytes during ongoing immune responses.[supplied by OMIM] 15489334,12975309,12477932,12193705,17207965,17548624,16259954,20811673 260436 NM_152997,AC105347,CH471057,AF086120,AF435080,AY190326,AY358958,BC062213,CS488923 ADQ32002,NP_694542,EAX05613,AAN01116,AAO41714,AAQ89317,AAH62213,Q540F3,Q8NFU4,CAM55997 Hs.320147 FDC-SP|FDCSP|MGC71894 FDC secreted protein|follicular dendritic cell secreted peptide protein-coding 1320077 C4orf8 chromosome 4 open reading frame 8 12477932,20379614,11169226,9734812,8946164 8603 NM_003704,AL110117,CH471131,AA905011,AB000459,AB000460,AB000461,AB001563,AF040966,AK303732,AK307430,AK308449,BC136646,BC144337,BC144339,BC144340,BM468825,D44687 NP_003695,EAW82518,EAW82519,EAW82520,EAW82521,BAA19116,BAA19117,BAA19118,BAA31858,AAB97012,BAH14034,AAI36647,AAI44341,P78312 Hs.652364 C4orf8|RES4-22 OTTHUMP00000218363|OTTHUMP00000218364|OTTHUMP00000218365|OTTHUMP00000218366|OTTHUMP00000218367|hypothetical protein LOC8603 protein-coding 735934 C5 complement component 5 The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. [provided by RefSeq] 1600637,1600651,1600652,1600655,1600599,1580863,1600658,1600665,1600666,1600592,1600597 20424189,8175701,7835913,7730648,7661861,3624872,3408713,3365401,2808363,2784981,2730871,2579066,1996961,1984448,1387399,690134,106884,8630395,20545943,20591742,20797713,20822712,20962850,20973039,8898085,10820279,9590258,7649993,8759757,3052276,9218605,19479237,19416238,19401279,19375167,19344414,19336421,19324972,19265162,19263529,19258923,19247692,19230171,19225544,19180477,19131662,19116907,19110536,19028820,18974840,18759306,18714034,18644651,18576341,18411281,18300128,18039528,17880261,17804836,17703412,17644516,17634448,17533009,17505301,17498719,17482181,17428459,17322907,17023413,16879222,16823297,16670089,16335952,15995705,15879120,15778377,15598652,15585680,15550394,15488949,15383587,15278436,14662858,14556080,12937147,12881318,12878586,12488432,12477932,11752456,11367533,10352266,9553099,9188742,9007977,8889548,8702752,7911492,11939578,15768031,14566334,16452172,18240029,1847994,19162005,19414197,19423540,19503088,19559392,19565500,19674979,19729601,19741008,19843088,19864026,19902201,19909405,19918040,19948975,20022638,20030635,20049410,20109314,20124699,20133685,20143644,20205706,20219786,20233754,20237496,20353580,20406964,20438785,20444755,20479942,20498205,20503287,20453842,18953960,19913121,20536507,20603037,20628086 1600637,1600651,1600652,1600655,1600599,1600658,1600665,1600666,1600592,1600597 727 NM_001735,NG_007364,AC006430,CH471090,DQ400449,AB209031,AK310774,AK310780,AV682721,BC022299,BC113738,BC113740,BG533927,CB250401,M57729,M65134,T82068 NP_001726,EAW87480,ABD48959,BAD92268,AAI13739,AAI13741,AAA51925,AAA51856,P01031,Q59GS8,AAB35171 Hs.494997 CPAMD4|FLJ17816|FLJ17822|MGC142298 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4|anaphylatoxin C5a analog|complement C5 protein-coding 1350810 C5AR1 complement component 5a receptor 1 1580863 10352266,7649993,8779720,8702752,9590258,2007135,19344414,19333232,19324972,19308263,19251703,19005416,18772131,18753257,18538384,18187666,17804836,17724165,17234193,17199736,17135254,17090530,17068344,17023413,16879222,16778800,16511606,16301808,15944400,15550394,15489334,15485893,15278436,15158333,15144465,15128829,15039137,14570896,12794141,12759460,12651630,12477932,12464600,12453150,12091343,11773063,11733378,11705397,11342590,10963136,9553099,8759762,8573284,8383526,7962171,7642584,7521884,1847994,1612600,2541200,10597774,15768031,20500690,20473571,19864971,12600272,17322907,18240029,19423540,19464229,19657723,19789190,20044484,20406964,20438785,20484595,16341674 728 AC099491,AY221091,CH471126,S56557,X58674,BC008982,BE042476,BI916506,BM830753,BT007358,M62505,X57250,NM_001736 ABM82683,ABM85866,NP_001727,AAO65969,EAW57470,EAW57471,AAD14919,CAB37830,AAH08982,AAP36022,AAA62831,CAA40530,P21730 Hs.2161 C5A|C5AR|C5R1|CD88 C5a anaphylatoxin chemotactic receptor|C5a anaphylatoxin receptor|C5a ligand|C5a-R|complement component 5 receptor 1|complement component 5 receptor 1 (c5a ligand) protein-coding 1343214 C5orf10 chromosome 5 open reading frame 10 170747 1351571 C5orf13 chromosome 5 open reading frame 13 16484684,16344560,16229809,15489334,15146197,14702039,12477932,12417574,10981724,10660586,8261136,16169070,18029348,20973039 9315 AF119859,AK021624,AK298779,AK307346,AK315617,AL547663,BC011050,BC019068,BC072013,BC072443,BX649051,NM_001142475,NM_001142474,NM_001142476,NM_001142477,NM_001142478,NM_001142479,NM_001142480,NM_001142481,NM_001142482,NM_004772,NM_001142483,AC022108,AC025182,AC025450,AC114297,CH471086,CN415439,CR590608,CR594948,CR595885,CR597011,CR600189,CR601940,CR602437,CR602516,CR605504,CR606026,CR607755,CR608957,CR610267,CR611162,CR611883,CR612701,CR618085,CR622137,CR622215,CR625954,DA027062,DA078027,DA490948,DA520221,DA526263,DA534424,DA683910,DA694580,DA704824,DA744980,DA752769,DA908653,DA939543,DC365764,U30521,U36189,FB659826 EAW49022,EAW49023,EAW49024,EAW49025,EAW49020,EAW49021,AAF69613,BAH12868,BAG37985,AAH11050,AAH19068,AAH72013,AAH72443,NP_001135947,NP_001135946,NP_001135948,NP_001135949,NP_001135950,NP_001135951,NP_001135952,NP_001135953,NP_001135954,NP_004763,NP_001135955,EAW49019,AAA74903,AAA93255,Q16612,Q9P187,CAS01768 Hs.36053,Hs.483067,Hs.694860 D4S114|P311|PRO1873|PTZ17 OTTHUMP00000222891|OTTHUMP00000222893|OTTHUMP00000222894|OTTHUMP00000222898|OTTHUMP00000222899|neuronal protein 3.1|protein p311 protein-coding 1321206 C5orf15 chromosome 5 open reading frame 15 12477932,9110174,8889548,8619474,18951430,16303743,15489334,15342556,14702039,12752121 56951 NM_020199,AC025177,CH471062,CS300550,AF035313,AF226055,AK074963,AK298515,AK315362,AY157581,BC020875,BM681428,BP245947,CR591352,CR608320 NP_064584,EAW62287,EAW62288,CAK32214,AAF86955,BAC11319,BAG60720,BAG37757,AAO13165,AAH20875,Q8NC54,ABM82948,ABM86140 Hs.726078 HTGN29|KCT2 keratinocyte-associated transmembrane protein 2|keratinocytes associated transmembrane protein 2 protein-coding 1605576 C5orf20 chromosome 5 open reading frame 20 This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq] 10737800,17207965,20693543,11181995,17460725,16189510,15489334,12477932,11798177,20351714 140947 NM_130848,AC022092,CH471062,AB074498,BC069608,BC069610,BC074831,BC074832,BC117156,BC117158 ADQ32916,NP_570900,EAW62216,BAB84585,AAH69608,AAH69610,AAH74831,AAH74832,Q8TF63 Hs.152477 DCNP1 OTTHUMP00000223506|dendritic cell nuclear protein 1 protein-coding 1605070 C5orf22 chromosome 5 open reading frame 22 16344560,16189514,14702039,12477932,8889548,8619474,9110174 55322 NM_018356,AC022417,CH471118,AF085882,AI300780,AK002055,AK074385,AL834427,AV710784,BC021215,BC032845,BM683466,DA783320,DC404356,AF038176,AK299156 NP_060826,EAX10771,EAX10772,EAX10773,EAX10774,BAA92060,CAD39088,AAH21215,AAH32845,Q49AR2,BAG61204 Hs.519246 DKFZp667N066|FLJ11193|FLJ23805|MGC33010 hypothetical protein LOC55322 protein-coding 1606242 C5orf23 chromosome 5 open reading frame 23 11256614,15489334,14702039,12477932,19913121,20628086,19570815 79614 NM_024563,AC026703,CH471118,AK024116,BC022250 NP_078839,EAX10800,BAB14832,AAH22250,Q9H7Z1 Hs.13528 FLJ14054 hypothetical protein LOC79614 protein-coding 1605291 C5orf24 chromosome 5 open reading frame 24 17207965,16344560,14702039,12477932 134553 BX648529,DA760705,NM_152409,NM_001135586,AC006077,BX640771,CH471062,AJ437658,AK094881,BC045567,BC053677 ADQ32595,AAH53677,Q7Z6I8,NP_689622,NP_001129058,EAW62234,EAW62235,EAW62236,CAD26900,BAC04448 Hs.708536 FLJ37562 OTTHUMP00000223108|OTTHUMP00000223109|hypothetical protein LOC134553 protein-coding 1604161 C5orf25 chromosome 5 open reading frame 25 20936779,15489334,15144186,14702039,12477932,16169070 375484 NM_198567,AC138956,AC139493,AK126204,AK299336,BC032390,BC037298,BC066980,BC073880,BX390643,CR602378,DC372557 NP_940969,BAG61339,AAH32390,AAH37298,AAH66980,AAH73880,Q8NDZ2 Hs.519783 FLJ44216|FLJ52236|FLJ56998|MGC33586|MGC40402|MGC90345 OTTHUMP00000161247|OTTHUMP00000202935|hypothetical protein LOC375484 protein-coding 2290192 C5orf26 chromosome 5 open reading frame 26 16973895,15994437,15489334,12477932,9490301,16344560 114915 NR_015370,AC010261,CH471086,AB002437,AB048207,BC101844,BC112077,CR601802,CR612688,DA266578 EAW49016,BAB64313,Q96Q82 Hs.12082,Hs.724102 C5orf26|MGC126893|MGC138282|TIGA1 miscrna 2303887 C5orf27 chromosome 5 open reading frame 27 14702039,12477932 202299 NR_026936,AC008592,CH471084,AK096140,AK314737,AW206457,AY168789,BC093643,BC101577 EAW96058,EAW96059,BAG37278,AAO25675,Q52M75 Hs.8373 FIS|FLJ38821|MGC126626 miscrna 1605053 C5orf28 chromosome 5 open reading frame 28 16344560,15489334,14702039,12477932,9373149 64417 NM_022483,AC025457,CH471119,AK025310,AK225220,AK315466,AL137306,BC013351,BC063832,BC073852,BC119658,BC119659,CR604540,DA028175,DA035926 NP_071928,EAW56061,EAW56062,EAW56063,EAW56064,BAB15108,BAG37853,AAH13351,AAH63832,AAH73852,AAI19659,AAI19660,Q0VDI3,Q6GMT5 Hs.558531 FLJ21657|MGC149524|MGC90226 OTTHUMP00000221630|OTTHUMP00000221631|OTTHUMP00000221633|transmembrane protein C5orf28 protein-coding 1602449 C5orf30 chromosome 5 open reading frame 30 20453842,14702039,12477932,9110174,8619474 90355 NM_033211,AC011362,CH471086,AF038182,AK058020,AK090558,BC009203,CR591853,CR619198,CR623577 NP_149988,EAW49075,BAC03478,AAH09203,Q96GV9 Hs.482976 FLJ25291 OTTHUMP00000222713|OTTHUMP00000222714|hypothetical protein LOC90355 protein-coding 1603605 C5orf32 chromosome 5 open reading frame 32 12477932,9373149,8889548,17207965,8125298 84418 NM_032412,AC011379,AC011380,CH471062,AJ245877,AK225992,AK312045,BC013643,BC023982,BM919999,CA310907,CR603819,CR615127,CR607630 NP_115788,EAW62073,EAW62074,CAC21572,AAH13643,AAH23982,Q9H1C7,ADQ32230 Hs.529798 ORF1-FL49 hypothetical protein LOC84418|putative nuclear protein ORF1-FL49 protein-coding 1604237 C5orf33 chromosome 5 open reading frame 33 17207965,14702039,12477932,7566098 133686 NM_153013,NM_001085411,AC008807,AC008942,CH471119,AA332693,AI377881,AK055158,AK057950,AK304009,AY360463,BC032912,BC045565,BC062567,BM990433,BX648388 ADQ32546,Q4G0N4,NP_694558,NP_001078880,EAW55939,EAW55940,EAW55941,BAB70864,BAH14093,AAQ62967,AAH32912,AAH62567,Q49AR0 Hs.81907 FLJ30596|MGC43298 OTTHUMP00000161732|OTTHUMP00000221392|hypothetical protein LOC133686 protein-coding 1601916 C5orf34 chromosome 5 open reading frame 34 14702039,12477932 375444 NM_198566,AC025457,AC114956,CH471119,AK056925,AK303336,BC036867,AW002049,DB453004 NP_940968,EAW56065,BAB71311,BAG64399,AAH36867,Q96MH7 Hs.661641 FLJ32363|MGC46448 hypothetical protein LOC375444 protein-coding 1602299 C5orf35 chromosome 5 open reading frame 35 20864672,12477932 133383 NM_153706,AC008937,CH471123,AK309152,BC036528,CR625068,BG719045,NM_001171990 NP_714917,EAW54956,EAW54957,EAW54958,AAH36528,Q8NE22,NP_001165461 Hs.85950 MGC33648 hypothetical protein LOC133383 protein-coding 1604483 C5orf36 chromosome 5 open reading frame 36 15489334,15372022,14702039,12477932,11181995,10048485,20379614 285600 NM_001145678,NM_173665,AC010448,AC025766,AC093311,AC104127,AC117521,CH471084,AB020632,AK130941,AK308195,BC035515,BX648338,CR621527 NP_001139150,NP_775936,EAW96021,EAW96022,EAW96025,BAA74848,BAC85469,AAH35515,Q8IV33 Hs.425123 DKFZp686F0372|FLJ27431|KIAA0825|MGC34713 OTTHUMP00000162008|hypothetical protein LOC285600 protein-coding 1605874 C5orf37 chromosome 5 open reading frame 37 19349582,15489334,15144186,14702039,12477932,20935630 134359 NM_001099271,NM_152408,AC010245,AC025170,CH471084,AK093098,AK296071,AK311296,BC010695,BC050459,BC065750,BC101325,BC101326,BC101327,BC101328,BJ991592,CA441610,CR605391,CR621973,DB448626 NP_001092741,NP_689621,EAW95767,EAW95768,EAW95769,BAC04054,BAG58829,AAH65750,AAI01326,AAI01327,AAI01328,Q8NA72 Hs.432726 C5orf37|FLJ35779|MGC120442|MGC120443|MGC120444|POC5 OTTHUMP00000222116|OTTHUMP00000222453|centrosomal protein POC5|hPOC5|protein of centriole 5|proteome of centriole 5 protein-coding 1606695 C5orf38 chromosome 5 open reading frame 38 16515847,12477932 153571 NM_178569,AC091891,AY249324,CH471102,AY249325,BC101608,BC101634,BC143638,BC143639,BC143640 NP_848664,AAP15241,EAX08134,EAX08135,AAP15242,AAI01609,AAI01635,AAI43640,Q86SI9 Hs.668017 CEI|IRX2NB|MGC126657|MGC126683 IRX2 neighbor|OTTHUMP00000220682|OTTHUMP00000220683|coordinated expression to IRX2|coordinated expression to IRXA2 homeobox|coordinated expression to IRXA2 protein|protein CEI protein-coding 1605501 C5orf39 chromosome 5 open reading frame 39 18636554,16895901,15146197,12477932,10359570 389289 NM_001014279,AC025171,CH471119,AY032883,BC067873,BQ670161,CN261477 NP_001014301,EAW56037,EAW56038,AAK52335,AAH67873,Q3ZCQ2 Hs.529385,Hs.721020 AX2R|AXIIR annexin II receptor|annexin-2 receptor protein-coding 1319694 C5orf4 chromosome 5 open reading frame 4 17081983,15489334,14702039,12477932,10843801 10826 NM_032385,AC112169,CH471062,AF159165,AK023820,AK074245,AK127944,AK295546,AK300938,AL359653,AL359655,BC004506,BC007216,CR626161 NP_115761,EAW61629,EAW61630,EAW61631,AAF22611,BAG58453,BAG62567,AAH04506,AAH07216,Q96IV6,Q9UHK3 Hs.519694,Hs.713175 FLJ13758 hypothetical protein LOC10826 protein-coding 1606861 C5orf40 chromosome 5 open reading frame 40 18029348,16344560,12477932,17207965 408263 DA173480,DB567325,NM_001001343,AC016571,CH471062,AK289701,BC022570 Q8TBE3,NP_001001343,EAW61607,BAF82390,AAH22570,ADQ32821 Hs.437066 C5orf40|MGC27121 fibronectin type-III domain-containing protein C5orf40 protein-coding 1603892 C5orf41 chromosome 5 open reading frame 41 17353931,18391022,12477932,14702039,20062060 153222 NM_153607,AC008378,CH471062,AK122675,AK124117,AK291677,AK297424,AK300043,AY139008,AY174896,AY635785,BC041709,BC043185,BX647573,BX647768,NM_001168393,NM_001168394 NP_705835,EAW61414,EAW61415,EAW61416,BAG53659,BAG54011,BAF84366,BAH12579,BAG61854,AAN28956,AAO18732,AAV34175,AAH41709,CAI46104,CAI46039,Q8IUR6,NP_001161865,NP_001161866 Hs.484195 DKFZp313F2319|DKFZp686G2059|LRF adult retina protein|luman-recruiting factor protein-coding 1606513 C5orf42 chromosome 5 open reading frame 42 20936779,14702039,12477932,10737800,15372022 65250 AW996738,DB448866,DN831769,DW009792,DW009948,DW009949,DW009996,DW009997,DY655086,EG327639,NM_023073,AC008925,AC025449,AK023293,AK024779,AK026735,AK055192,AK096581,AL832176,AL833065,BC028410,BC074774,BC144069,BC144070,BC144072,BC150594,BX647602,BX649121 A8MUB7,NP_075561,BAB14513,BAB14999,BAB15539,BAC04822,AAH28410,AAH74774,AAI44070,AAI50595,Q6DK46,Q9H799 Hs.586199,Hs.649889,Hs.705282 DKFZp686K02105|FLJ13231|FLJ21126 OTTHUMP00000218308|OTTHUMP00000218309|OTTHUMP00000218310|Transmembrane protein ENSP00000382582|hypothetical protein LOC65250 protein-coding 2293892 C5orf43 chromosome 5 open reading frame 43 16344560,12477932 643155 NM_001048249,AC008498,CH471123,AK291180,BC014242,BC047489,BC066550,BC103711,BC146876,BC146881,BX538015,BX648459,CR599620,DA039277 NP_001041714,EAW55009,BAF83869,AAI46877,AAI46882,CAD97962,Q7Z3B0 Hs.508479 DKFZp686E2158|DKFZp686O1385 OTTHUMP00000221665|hypothetical protein LOC643155 protein-coding 1605046 C5orf44 chromosome 5 open reading frame 44 16344560,15489334,14702039,12477932,8889548 80006 NM_024941,NM_001093756,NR_003545,AC008560,CH471137,NM_001093755,AK023673,AK130467,AL713699,BC012006,BC047475,BC117128,BC142994,BC143691,BC143693,BE222610,BM664695,BX641157,CD105043,CR625108,DA903408,DB145758,DQ088673,N67829 NP_001087224,NP_079217,NP_001087225,EAW51343,EAW51344,EAW51345,EAW51346,EAW51347,EAW51348,BAB14633,BAC85360,CAD28498,AAH47475,AAI17129,AAI42995,AAI43692,AAI43694,CAE46070,AAY88966,A5PLN9,Q6ZNX1 Hs.591760 FLJ13611|FLJ26957|MGC48585 OTTHUMP00000222555|OTTHUMP00000222558|UPF0533 protein C5orf44|hypothetical protein LOC80006 protein-coding 1606005 C5orf45 chromosome 5 open reading frame 45 15489336,15146197,14702039,12477932,11230166,11076863,16381901,17207965 51149 NM_001017987,NM_016175,AC008393,CH471165,AF153685,AK095057,AK125253,AK293901,AK298954,BC002739,BC050714,BC056889,BC069051,BF965313,BQ642639,BX537968,BX647375,CN363239,CR936785 NP_001017987,NP_057259,EAW53784,EAW53785,AAD51611,BAH11622,BAH12911,AAH02739,AAH69051,CAD97932,Q6NTE8,CAL37424,CAL38467,ADQ32062 Hs.724025 DKFZp686L2452|MGC65027|MGC78537 hypothetical protein LOC51149 protein-coding 1605197 C5orf46 chromosome 5 open reading frame 46 12975309,12477932 389336 NM_206966,AC011352,AK289403,AY358656,BC021680 NP_996849,BAF82092,AAQ89019,AAH21680,Q6UWT4 Hs.660038 MGC23985 hypothetical protein LOC389336 protein-coding 2298818 C5orf47 chromosome 5 open reading frame 47 12477932 133491 BC066964,BC092489,BC121167,BC121168,DB443869,NM_001144954,AC093275,AC113423,CH471062,BC034971,BC047225,BC053953,BC057842 AAH92489,Q569G3,NP_001138426,EAW61388,AAH34971 Hs.131469 hypothetical protein LOC133491 protein-coding 1605198 C5orf48 chromosome 5 open reading frame 48 12477932 389320 NM_207408,AC099513,CH471086,AK131015,BC130495,BC130497 NP_997291,EAW48848,BAC85477,AAI30496,AAI30498,Q6ZNM6,ADR82834 Hs.177983 FLJ27505|MGC163367|MGC163369 hypothetical protein LOC389320 protein-coding 2298811 C5orf49 chromosome 5 open reading frame 49 12477932,20379614 134121 NM_001089584,AC010346,CH471102,BC053548,BC062569,BC104204,BC104205,BC115361 NP_001083053,EAX08096,AAI04206,AAI15362,A4QMS7 Hs.709979 OTTHUMP00000220816|hypothetical protein LOC134121 protein-coding 2298816 C5orf50 chromosome 5 open reading frame 50 15372022,19197348,20379614 644994 XM_928062,AC011410,AC022440 XP_933155,A6NLE4 chromosome 5 open reading frame 50 protein-coding 1604481 C5orf51 chromosome 5 open reading frame 51 15489334,15372022,14702039,12477932 285636 NM_175921,AC034222,CH471119,AK094002,AL833916,BC131721,BF439305,BX648350 NP_787117,EAW56016,EAW56017,AAI31722,CAH10547,A6NDU8,Q6AW98 Hs.29899 UPF0600 protein|hypothetical protein LOC285636 protein-coding 2303474 C5orf52 chromosome 5 open reading frame 52 15489334,15372022 100190949 NM_001145132,AC008694,CH471062,AI187821,BG721329 NP_001138604,EAW61592,A6NGY3 Hs.720862 hypothetical protein LOC100190949 protein-coding 1604414 C5orf53 chromosome 5 open reading frame 53 19201837,12477932 492311 CH471062,AB073888,BC017422,BC041380,CD516511,AC011379,NM_001007189 EAW62075,AAH17422,A6NJ69,NP_001007190 Hs.696360 IGIP IgA-inducing protein (Bos taurus)|IgA-inducing protein homolog protein-coding 1606516 C5orf54 chromosome 5 open reading frame 54 12477932,10607616 63920 NM_022090,AC091842,AF205598,CH471062,AA728782,AK026754,BC032603,BC112128,BC112130,BM457021,BM903536,BQ959342,CR612548 NP_071373,AAF18452,EAW61557,EAW61558,EAW61559,EAW61560,BAB15542,AAH32603,AAI12129,AAI12131,Q8IZ13 Hs.529464 Buster3 transposon-derived Buster3 transposase-like protein protein-coding 2306473 C5orf55 chromosome 5 open reading frame 55 12477932,16189514 116349 NM_138464,AC010442,BC014011,BC029796 NP_612473,AAH14011,AAH29796,Q8N2X6 Hs.446702 hypothetical protein LOC116349 protein-coding 1605775 C5orf56 chromosome 5 open reading frame 56 20570966,21102463,14702039,12477932,18587394,19760754,20886065 441108 NM_001013717,AC116366,CH471062,AK096941,AK128882,AK309191,BC130299,BC130656 NP_001013739,EAW62333,EAW62334,EAW62335,EAW62336,BAC04907,AAI30300,AAI30657,Q8N8D9,ADR83475 Hs.658288 hypothetical protein LOC441108 protein-coding 3403707 C5orf58 chromosome 5 open reading frame 58 12477932 133874 AC008660,AC034199,BC030767,BC092511,BX100176,CH471062,NM_001102609 C9J3I9,EAW61482,NP_001096079 Hs.519749 MGC42229 putative uncharacterized protein C5orf58 protein-coding 3104049 C5orf60 chromosome 5 open reading frame 60 12477932,14702039,15372022,15489334 285679 AC136604,AK093042,BC040992,BC043435,BC130442,BC130444,BC144274,BC144275,NM_001142306,HC007094 A6NFR6,AAI30443,AAI30445,AAI44275,AAI44276,NP_001135778,Q8NA96,CBH19352 Hs.558748 FLJ35723 OTTHUMP00000223359|putative uncharacterized protein C5orf60 protein-coding 1350608 C5orf9 chromosome 5 open reading frame 9 415118 AI808255 Hs.124611 protein-coding 1352972 C6 complement component 6 C6 is a component of complement cascade. It is part of the membrane attack complex which can insert into the cell membrane and cause cell to lyse. People with C6 deficiency are prone to bacterial infection. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1600672,1600673,625607,1600675,1600489,1600682,1600670,1580863 17474147,3052276,19344414,18842294,17257682,16344560,16335952,15845028,15489334,14757862,12477932,10551839,9856498,9472666,9366265,8805625,8512929,8364540,8101442,3764345,3192535,2808363,2789218,2468158,1672663,1387399,16169070,19162005,19423540,19665237,19864026,20237496,20406964,20438785,20459687,19913121,20628086 1600672,1600673,625607,1600675,1600489,1600682,1600670 729 NM_000065,NM_001115131,NG_011582,AC008863,AC091871,CH471119,X72177,AB126592,AK292509,AK313673,BC035723,DB184605,J04506,J05024,J05064 NP_000056,NP_001108603,EAW56012,EAW56013,CAA50994,BAD02321,BAF85198,AAH35723,AAB59433,AAA59668,AAA51860,P13671,ABM82183,ABM85369 Hs.481992 complement component C6 protein-coding 1605841 C6orf1 chromosome 6 open reading frame 1 19913121,20628086,15489334,12477932,10036196,8889549,19893584,20379614 221491 NM_178508,NM_001008703,NM_001008704,AL354740,AY062936,CH471081,AA043491,AA779779,AK290164,BC009526,BC023627,BC047919,CF456665,CR592917,CR619587 NP_848603,NP_001008703,NP_001008704,EAX03775,EAX03776,EAX03777,EAX03778,BAF82853,AAH23627,AAH47919,Q86T20 Hs.381300 LBH|MGC57858 hypothetical protein LOC221491 protein-coding 1346663 C6orf10 chromosome 6 open reading frame 10 19143821,19116923,18445777,15489334,14574404,12509440,12477932,10803852,9373149,8125298,20549515,20587610,20639878,20662065,18576341,18941528,19680446,19851445,20200978,20453842 10665 CH471081,CR751604,CR752644,CR759737,CR759773,CR759917,CT009614,AK225742,AK302176,AK310230,BC034774,BX113229,AL034394,AL035445,AL662796,AL670296,AL671511,AL845509,AL845557,BX001039,BX908732,BX927180,NM_006781,U60665,BX119999,BX255945,BX284927 EAX03624,EAX03625,CAQ08218,CAQ08219,CAQ07064,CAQ07065,CAQ06670,CAQ06671,CAQ07559,CAQ07560,BAG63542,AAH34774,CAI18571,CAI18572,CAQ08440,CAQ08441,NP_006772,CAI42178,CAI42179,CAI20345,CAI20346,CAI18262,CAI18263,CAI17567,CAI17568,CAI18059,CAI18060,CAI18565,CAI18566,CAI17766,CAI17767,CAQ07323,CAQ07324,AAB02975,Q13647,Q5SRN2 Hs.567414 TSBP chromosome 6 open reading frame 10|testis specific basic protein protein-coding 1351960 C6orf100 chromosome 6 open reading frame 100 387084 1343309 C6orf103 chromosome 6 open reading frame 103 14702039,14574404,11329013 79747 NM_024694,AL138916,AL158199,AL359547,CH471051,AK026774,AK097570,AL832192,BG199812,DN831198 NP_078970,CAI14693,CAI14697,CAI14698,CAI20488,CAI20489,CAI20490,CAI16490,EAW47827,BAB15549,BAC05106,Q5TAU2,Q8N7X0,Q9H5S1,Q9HAA5 Hs.720870 calpain-7-like protein protein-coding 1313849 C6orf105 chromosome 6 open reading frame 105 16415175,15489334,15342556,14702039,14574404,12477932,20379614 84830 NM_032744,AL022724,CH471087,AI147084,AI336841,AJ420520,AK123258,AK300919,AK310611,AK313114,BC007011,BP330027,DC388625,NM_001143948 NP_116133,CAB38130,CAI20503,EAW55304,EAW55305,EAW55306,BAG62551,BAG35936,AAH07011,Q5THW1,Q96IZ2,NP_001137420 Hs.126409 MGC12335|RP3-413H6.1|dJ413H6.1 OTTHUMP00000016034|OTTHUMP00000221436|OTTHUMP00000221438|hypothetical protein LOC84830 protein-coding 1601978 C6orf106 chromosome 6 open reading frame 106 19266077,18793612,18391952,18003597,15489334,14702039,14574404,12477932,9110174,20846217,19059477,19343178,8619474,20546612 64771 NM_022758,NM_024294,AL031577,AL451165,CH471081,AF052106,AF370387,AK025848,AK056964,AK313410,BC002328,BC010143,BC010184,BC013241,BC071885,BC075810,BC107732,BE898102,CR593696 NP_073595,NP_077270,CAI20393,CAI20394,CAI20395,CAH70507,CAH70508,EAX03790,EAX03791,EAX03792,AAQ15223,BAB15258,BAB71327,BAG36204,AAH02328,AAH10184,AAH75810,Q5TH58,Q71RF0,Q9H6K1 Hs.643498 FLJ22195|FLJ32402|FP852|MGC4614|RP3-391O22.4|dJ391O22.4 OTTHUMP00000016236|chromosome 6 open reading frame 106 protein-coding 1603316 C6orf108 chromosome 6 open reading frame 108 This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq] 18029348,9271375,18726892,17081983,16189514,15489334,14574404,12477932 10591 NM_199184,NM_006443,AL133375,CH471081,AF040105,BC011683,BM747628,BQ052226,EU585603 NP_954653,NP_006434,CAI20205,EAX04165,EAX04166,AAB96766,AAH11683,ACB87500,O43598 Hs.109752 RCL|RP3-330M21.3|dJ330M21.3 OTTHUMP00000217077|c-Myc-responsive protein Rcl|deoxyribonucleoside 5'-monophosphate N-glycosidase|putative c-Myc-responsive protein-coding 1353106 C6orf112 chromosome 6 open reading frame 112 14574404,17974005 154442 AL356775,NR_037157,XR_110204,XR_112907,XR_113965,AL137368 CAI13618,Q5T3Y7,CAI13617 Hs.586271 DKFZp434F2226|bA99L11.2 chromosome 6 open reading frame 112 miscrna 1347646 C6orf114 chromosome 6 open reading frame 114 15489334,14574404,12477932 85411 NM_033069,AL583828,CH471087,AF264036,BC009205,BC066553 NP_149060,CAI14821,EAW55330,AAK58533,AAH66553,Q96JD4 Hs.674313 ADG-90|FLJ20330|RP11-501I19.1 hypothetical protein LOC85411 protein-coding 1351168 C6orf115 chromosome 6 open reading frame 115 15489334,12665801,12477932,11042152,15723814 58527 NM_021243,AL590308,CH471051,AF116682,AF161398,BC014953,BG563686 NP_067066,CAI14830,CAI14831,EAW47902,AAF71102,AAF28958,AAH14953,Q9P1F3 Hs.600861 HSPC280|PRO2013|RP11-501K14.2 hypothetical protein LOC58527 protein-coding 1349789 C6orf118 chromosome 6 open reading frame 118 8889548,15489334,14574404,12477932 168090 NM_144980,AL117345,AL356125,CH471051,AI333765,BC026278,BM968092,DB454755,AK302358 NP_659417,CAI20512,CAI16919,EAW47548,EAW47549,AAH26278,Q5T5N4,BAH13683 Hs.144734 MGC23884|bA85G2.1|dJ416F21.2 dJ416F21.2 (novel protein)|hypothetical protein LOC168090 protein-coding 1348768 C6orf120 chromosome 6 open reading frame 120 9110174,8908511,8619474,12477932 387263 NM_001029863,AL513547,CH471051,AF055030,AF451991,AK295061,AK295962,BC051700,CR615299,CR615618,CR619063 NP_001025034,CAI12315,EAW47445,EAW47446,AAP97690,BAG58110,BAG58741,AAH51700,Q7Z4R8 Hs.694601,Hs.591375 bA160E12.4 hypothetical protein LOC387263 protein-coding 1344460 C6orf122 chromosome 6 open reading frame 122 14574404,12477932,15489334,14702039 401288 NR_026781,AL354892,AK056013,BC119778,BC122871 BAB71073,Q5T6M2 Hs.556095 C6orf122|FLJ31451|dJ266L20.5 miscrna 1346936 C6orf123 chromosome 6 open reading frame 123 15489334,12477932,10382971 26238 NR_026773,AL009178,AL732359,CH471051,AB016901,BC027853 CAI20906,EAW47488,EAW47489,BAA78636,Q9Y6Z2 Hs.520583 HGC6.2|RP3-431P23.4|dJ431P23.4 miscrna 1352975 C6orf124 chromosome 6 open reading frame 124 10382971,14702039 653483 AL009178,CH471051,AB016898,AK091690,CR600303,DC331926,AK301419,DC427335,NR_027906 EAW47487,BAA78633,BAC03721,Q9Y6Z5,BAG62948 Hs.520556 HGC6.4|dJ431P23.3 miscrna 1315803 C6orf125 chromosome 6 open reading frame 125 19643811,15489334,14574404,12477932,19851445,20877624 84300 NM_032340,AL139044,CH471081,AF086234,AK311835,AY568085,BC006007 NP_115716,CAI16457,CAI16458,EAX03745,BAG34777,AAS68365,AAH06007,Q9BRT2 Hs.93235 MGC14833|bA6B20.2 breast cancer associated protein SGA-81M|hypothetical protein LOC84300 protein-coding 1605196 C6orf126 chromosome 6 open reading frame 126 15340161,12975309 389383 NM_207409,AL157823,CH471081,AW665167,AY358823,CD513822 NP_997292,CAI21638,CAQ08848,EAX03847,EAX03848,AAQ89182,Q6UWE3,AAI72344 Hs.259563 UNQ3045|dJ510O8.5 AAAL3045|hypothetical protein LOC389383 protein-coding 1604478 C6orf127 chromosome 6 open reading frame 127 18390568,16344560,12477932 340204 NM_001010886,AL157823,CH471081,AI018488,BC133046,BC137392,BC150543,BC150544,BX106742,DQ823638 NP_001010886,CAI21640,EAX03849,AAI33047,AAI37393,AAI50544,AAI50545,ABK41022,A2RUU4 Hs.131296 ESP32|dJ510O8.6 colipase B-like|hypothetical protein LOC340204 protein-coding 1352845 C6orf129 chromosome 6 open reading frame 129 19204726,19734545,16344560,12477932 154467 BC003515,BC104835,BC108655,BE907609,DA152306,NM_138493,AL353597,CH471081,AF161383 AAF28943,AAH03515,AAI04836,AAI08656,Q9P0B6,NP_612502,CAI19607,CAI19608,EAX03947 Hs.284207 HSPC265|MGC131656 OTTHUMP00000016330|transmembrane and coiled-coil domain-containing protein C6orf129 protein-coding 1317992 C6orf130 chromosome 6 open reading frame 130 15489334,14574404,12477932 221443 NM_145063,AL031778,CH471081,AJ420538,AK290939,AK310688,AK313361,BC011709,BC021579,CR620893,CR621311 NP_659500,CAI20285,EAX04010,EAX04011,EAX04012,BAF83628,BAG36161,AAH11709,AAH21579,Q05CR9,Q9Y530 Hs.158357 FLJ17636|MGC19570|dJ34B21.3 OTTHUMP00000216762|OTTHUMP00000216765|OTTHUMP00000216766|OTTHUMP00000216771|OTTHUMP00000216772|hypothetical protein LOC221443 protein-coding 1345988 C6orf131 chromosome 6 open reading frame 131 387091 1354360 C6orf132 chromosome 6 open reading frame 132 647024 NM_001164446,AL096814,AL512274,AK074567 NP_001157918,CAI19541,CAI16783,Q5T0Z8 Hs.710148,Hs.575337 FLJ90086|bA7K24.2 OTTHUMP00000223436|hypothetical protein LOC647024 protein-coding 1347627 C6orf134 chromosome 6 open reading frame 134 16344560,14702039,12477932,9373149,20829795,19851445,8125298 79969 NM_001031722,AL662800,AL732442,AL845353,BX119957,BX908728,NM_024909,CH471081,CR753328,CR759778,AB075512,AK023220,AK225107,AK297661,AK298743,AL535697,AL833858,BC006105,BC025755,BC047303,BX418559,CR593788,CR594590,CR599754,CR602660,CR615059,CR619757,CR622449,DB090032,BX418089,CX786272,NM_001190724,NR_033821,NR_033822,NR_033823 NP_079185,NP_001026892,CAI18164,CAI18165,CAI18166,CAI18167,CAI18168,CAM25498,CAI17752,CAI17753,CAI17754,CAI17755,CAM25006,CAI41870,CAI41871,CAM25912,CAM25913,CAM25914,CAM25915,CAM25916,CAM25917,CAQ07413,CAQ07414,CAQ07415,CAQ07416,CAQ07417,CAQ07418,EAX03306,EAX03307,EAX03308,EAX03309,CAP58454,CAP58455,CAP58456,CAP58457,CAP58458,CAP58459,CAQ09406,CAQ09407,CAQ09408,CAQ09409,CAQ09410,CAQ09411,BAE45758,BAB14472,BAH12643,BAH12864,CAD38717,AAH06105,AAH25755,AAH47303,Q5SQI0,Q8TAV6,NP_001177653 Hs.654798 C6orf134|DKFZp547J097|FLJ13158|MEC17|Nbla00487|TAT OTTHUMP00000029316|OTTHUMP00000163695|acetyltransferase MEC-17|alpha-TAT|alpha-tubulin N-acetyltransferase|hypothetical protein LOC79969 protein-coding 1348259 C6orf136 chromosome 6 open reading frame 136 16344560,15489334,15342556,14702039,14574404,12477932,8889548,17207965 221545 NM_001109938,NM_145029,NM_001161376,AL662798,AL662800,AL732442,AL845353,BX119957,BX908728,CH471081,CR753328,CR759778,AI536982,AK127564,BC016167,BC064397,BC073975,BM695485,BP255323,BQ022831,DA200997 NP_001103408,NP_659466,NP_001154848,CAI18250,CAI95541,CAI18172,CAI95540,CAI17758,CAI17760,CAI41879,CAI41880,CAM25919,CAM25920,CAQ07420,CAQ07421,EAX03310,EAX03311,CAP58460,CAP58461,CAP58462,CAQ09413,CAQ09414,BAC87037,AAH16167,AAH64397,Q0P5T2,Q5SQH8,ADQ32157 Hs.591787 MGC15854 OTTHUMP00000214979|hypothetical protein LOC221545 protein-coding 1606357 C6orf138 chromosome 6 open reading frame 138 12477932,11181995,20379614,19913121,20628086 442213 NM_207499,NM_001013732,AL121973,AL139336,AL161622,AL353138,CH471081,AK123835,AK299301,AK300335,BC136779,BC137359,BC137364,DC372324,DR761295 NP_997382,NP_001013754,CAI20456,EAX04325,BAC85703,BAG61315,BAG62081,AAI36780,AAI37360,AAI37365,Q6ZW05 Hs.659409 FLJ41841|dJ402H5.2 patched domain-containing protein C6orf138 protein-coding 1348263 C6orf140 chromosome 6 open reading frame 140 16344560,14702039,20171287,20379614 389396 NM_001010904,AL590244,CH471081,AW591696,DB246049 NP_001010904,CAI13086,EAX04334,Q5SZD4 Hs.585172 C6orf140|FLJ44407|bA28H17.2 glycine N-acyltransferase-like protein 3 protein-coding 1342733 C6orf141 chromosome 6 open reading frame 141 15489334,15146197,14702039,14574404,12477932 135398 NM_001145652,AL590244,CH471081,AK054918,AK289889,BC036917,CN345508 NP_001139124,EAX04335,EAX04336,BAB70828,BAF82578,AAH36917,Q5SZD1 Hs.485528,Hs.722010 MGC46457 hypothetical protein LOC135398 protein-coding 1315218 C6orf142 chromosome 6 open reading frame 142 16344560,15489334,14702039,14574404,12477932,12218070,11282395,11222402,11160357,10975868,20379614 90523 NM_138569,AF235573,AF235775,AJ408433,AL139389,AL359380,AL365328,CH471081,AF317593,AK055530,AK294797,AK294890,AK311190,AK316157,AY006110,BC009010,BX091237,BX113168,BX647567,DA761851 EAX04436,NP_612636,AAK13703,AAK13905,CAC27625,CAI13926,CAI13927,CAI13928,CAI16269,CAI16270,CAI16271,CAH73016,CAH73017,EAX04433,EAX04434,EAX04435,AAK07575,BAB70942,BAH11888,BAH11916,BAH14528,AAG15613,AAH09010,Q5T468,Q5VWP3,Q96FE4,ACT64431 Hs.591803,Hs.449276 FLJ54673|FLJ79056|MGC18257 OTTHUMP00000217922|OTTHUMP00000217923|OTTHUMP00000217935|hypothetical protein LOC90523 protein-coding 1350222 C6orf144 chromosome 6 open reading frame 144 387096 1322692 C6orf145 chromosome 6 open reading frame 145 16344560,12477932 221749 NM_183373,AL033523,AL391422,CH471087,AJ420534,AK024828,AK289598,AL832792,BC045715,BC056908,BG703675,CK725197,CR607510,CR616497,CR624860,DA164068,DB481678 NP_899229,CAI22539,CAI22540,CAI13992,CAI13993,EAW55141,BAF82287,CAI46167,AAH45715,AAH56908,Q5TGL8 Hs.727622 PX domain-containing protein C6orf145 protein-coding 1345120 C6orf146 chromosome 6 open reading frame 146 17207965,15489334,14702039,14574404,12477932 222826 NM_173563,AL033383,CH471087,HC006844,AK097426,BC039349 ADQ32977,NP_775834,CAI42122,EAW55152,CBH19227,EAW55154,BAG53470,AAH39349,Q8IXS0,EAW55153 Hs.657342 MGC43581 OTTHUMP00000015980|hypothetical protein LOC222826 protein-coding 1354465 C6orf147 chromosome 6 open reading frame 147 16341674,14702039 387097 NR_027005,AK090984,BM747426,AC019205 Hs.433062 miscrna 1348540 C6orf15 chromosome 6 open reading frame 15 19620980,18029348,15217361,14574404,12975309,11178745,10545595,15466855,19851445,20639881 29113 NM_014070,AB088114,AB202103,AL662844,AL662867,AL773544,BX927139,CH471081,CR753819,CR759805,AB031481,AY358438 NP_054789,BAC54947,BAE78624,CAI18322,CAI17718,CAI18478,CAQ10500,EAX03356,CAQ10589,CAQ08045,BAA88132,AAQ88804,Q6UXA7,AAI46375,AAI53158 Hs.272214 STG STG protein|taste bud-specific protein protein-coding 1353865 C6orf150 chromosome 6 open reading frame 150 16344560,15592455,15489334,14702039,14574404,12477932 115004 NM_138441,AC019205,AL603910,CH471051,AK097148,BC012928,BC108714,BC113606,BC113608,BC143694,DA375117 NP_612450,CAI14878,CAI14879,EAW48769,ADR83057,BAC04965,AAH12928,AAI08715,AAI13607,AAI13609,AAI43695,Q14CV6,Q8N884 Hs.658405 MGC131892|MGC142166|MGC142168 OTTHUMP00000016743|hypothetical protein LOC115004 protein-coding 1317478 C6orf153 chromosome 6 open reading frame 153 20038530,12477932,17081983,15983380,15635413,15489334,14574404 88745 AL136304,CH471081,AF161371,AK313816,BC006293,BC011933,NM_033112 NP_149103,CAI19798,EAX04143,AAF28931,BAG36552,AAH06293,AAH11933,Q96EU6 Hs.309231 C6orf153|RRP36|dJ20C7.4 RNA processing factor|ribosomal RNA processing protein 36 homolog protein-coding 1346466 C6orf154 chromosome 6 open reading frame 154 15489334,14574404,12477932 221424 NM_001012974,AL355802,CH471081,AK126786,BC107130,BC108661,CR626442 NP_001012992,CAI42621,EAX04202,BAG54373,AAI07131,AAI08662,Q3B825,Q5JTD7 Hs.445552 FLJ44836|MGC131686|dJ337H4.2 hypothetical protein LOC221424 protein-coding 2303472 C6orf155 chromosome 6 open reading frame 155 16344560,14702039,14574404,8889548 79940 NR_026807,AL035467,CH471051,AI688494,AK023251,AW274058,BM720568,DA622283 EAW48798,EAW48799,EAW48800,EAW48801,BAB14488,Q9H8W2 Hs.368337 FLJ13189|dJ288M22.3 miscrna 1313022 C6orf162 chromosome 6 open reading frame 162 16344560,15489334,14574404,12477932,17207965 57150 NM_001042493,NM_020425,AL096817,CH471051,AF311339,AI681117,AJ420558,AK311963,AL050201,BC070260,BG534658,DA293899 NP_001035958,NP_065158,CAI18941,EAW48601,EAW48602,EAW48603,AAK38513,BAG34903,AAH70260,Q96KF7,ADQ32012 Hs.70769 DKFZp586E1923|dJ102H19.2 hypothetical protein LOC57150 protein-coding 1604202 C6orf163 chromosome 6 open reading frame 163 14702039,14574404 206412 NM_001010868,AL096817,CH471051,AK092941 NP_001010868,CAB71116,EAW48604,EAW48605,EAW48606,Q5TEZ5 Hs.646309 OTTHUMP00000016829|hypothetical protein LOC206412 protein-coding 1350837 C6orf164 chromosome 6 open reading frame 164 14702039,12477932 63914 NR_026784,AL096817,AK021476 CAB71117,Q5TEZ4 Hs.645177 dJ102H19.4 miscrna 1321665 C6orf165 chromosome 6 open reading frame 165 16189514,15489334,14702039,14574404,12477932,16344560,20308539 154313 NM_001031743,AL049697,CH471051,AK093830,AK098840,BC035083,BC045171,DB021694,DB510748 NP_001026913,CAD92567,EAW48594,EAW48596,EAW48598,BAC04234,BAC05430,AAH35083,Q8IYR0,Q8N771 Hs.82921 FLJ25974|FLJ46091|dJ382I10.1 OTTHUMP00000220982|hypothetical protein LOC154313 protein-coding 1312286 C6orf167 chromosome 6 open reading frame 167 21055985,17353931,14702039,14574404,12477932,16169070,21055983,21055984,21113133 253714 NM_198468,AL023656,AL353679,AL590484,CH471051,AK128060,BC110860,BC142948,BX538214,CR601989,CR603418,CR749603,CR749822 NP_940870,CAI20426,CAI16668,EAW48494,EAW48495,EAW48496,BAC87254,CAH18398,CAH18682,Q6ZRQ5,AAI60006 Hs.444292 C6orf167|DKFZp686C20164|DKFZp781C2113|FLJ46180|KIAA1900|dJ39B17.2 MMS22-like, DNA repair protein|OTTHUMP00000221009|hypothetical protein LOC253714|methyl methanesulfonate-sensitivity protein 22-like|protein MMS22-like protein-coding 1347110 C6orf168 chromosome 6 open reading frame 168 737633 15489334,14702039,14574404,12477932,8889548 737633 84553 NM_032511,AL034371,CH471051,AK055101,AK057793,AK096480,BC004869,BC006515,BC011583,BQ883579,CK299578 NP_115900,CAI19992,EAW48483,EAW48484,EAW48485,EAW48486,EAW48487,BAB71576,BAG53301,AAH04869,AAH06515,AAH11583,Q5TGI0,Q9BR58 Hs.573245 FLJ30539|MGC2817|dJ273F20 hypothetical protein LOC84553 protein-coding 1345789 C6orf170 chromosome 6 open reading frame 170 16344560,14702039,14574404,19913121,20628086,20125193,20159594,20379614 221322 AL035593,AL139098,AL365508,AL589910,AL590225,CH471051,AK055461,AK091554,AK125385,AK126259,AK131446,DA109825,DA214223,NM_152730,DB216282 NP_689943,CAI20139,CAI20000,CAI13226,CAI16051,CAI13628,EAW48180,EAW48181,EAW48182,BAB70925,BAC03694,BAC86152,BAD18591,Q96NH3 Hs.121396 BROMI|C6orf171|FLJ30899|FLJ34235|bA301B7.2|bA57L9.1|dJ310J6.1 OTTHUMP00000017110|bA301B7.2 (novel protein)|dJ310J6.1 (novel protein)|protein broad-minded protein-coding 1350206 C6orf173 chromosome 6 open reading frame 173 20075984,18391951,17610844,12477932,19070575,19266077,19430480,19533040,20546612,20648695,20180024,21102462,20846217 387103 NM_001012507,AC020559,AX972753,CH471051,AL832235,AY902475,BC017928,BC039556,BC046178,BC062798 NP_001012525,CAF17861,EAW48119,EAW48120,EAW48121,EAW48122,EAW48123,AAW82474,AAH17928,AAH39556,AAH46178,AAH62798,Q5EE01 Hs.486401 C6orf173|CUG2|DKFZp686L1553 CENP-W|OTTHUMP00000017158|cancer-up-regulated gene 2 protein|cancer-upregulated gene 2|centromere protein W protein-coding 1347447 C6orf174 chromosome 6 open reading frame 174 14702039,14574404,12477932 387104 NM_001012279,AL096711,CH471051,AK091416,AK096490,AK309423,BC020441,BC127760,BC143043,BC143044,BE552225,BE779627,DC377915,AL583806 NP_001012279,EAW48100,AAI27761,AAI43044,AAI43045,Q5TF21,AAI56254,AAI57035 Hs.319247 dJ403A15.3 hypothetical protein LOC387104 protein-coding 1342598 C6orf176 chromosome 6 open reading frame 176 16344560,12477932 90632 NR_026861,NR_026860,AL132661,AL590482,AK289375,BC008632,BC039614,CB270066,DA416538 BAF82064,A8K010 Hs.31917 bA142J11.1 miscrna 1351982 C6orf177 chromosome 6 open reading frame 177 387105 1349161 C6orf178 chromosome 6 open reading frame 178 387108 1346584 C6orf179 chromosome 6 open reading frame 179 387109 AL365217 CAI16604 bA74E24.1 protein-coding 1348040 C6orf180 chromosome 6 open reading frame 180 387110 1351430 C6orf181 chromosome 6 open reading frame 181 15790807,15998911 387111 Z95118,AY927443,AY927444,AY927445,AY927446,AY927447,AY927448,AY927449,NR_033376 Hs.520310 C6orf181|dJ354J5.2 miscrna 1347020 C6orf182 chromosome 6 open reading frame 182 20139978,17207965,16344560,16341674,15489334,14702039,12477932 285753 AA761530,AK092723,AK289910,BC033448,BC064365,BM787514,BQ267680,BX093163,CR602009,DB204503,DB522144,NM_001083535,NM_173830,AL355305,CH471051 EAW48364,EAW48365,EAW48366,BAF82599,AAH33448,AAH64365,Q5T6A1,Q6P2R3,NP_001077004,NP_776191,CAI14559,EAW48361,EAW48362,EAW48363,ADQ32441,Q8IYX8 Hs.632616 C6orf182|MGC21731|MGC70837|bA487F23.2|cep57R OTTHUMP00000016948|OTTHUMP00000016949|centrosomal protein of 57 kDa-related protein|cep57-related protein|cep57R protein-coding 1322775 C6orf182P chromosome 6 open reading frame 182 pseudogene 221017 NG_005976,AC022532,CH471083 EAW54398,Q5T6A0 C10orf37|C6orf182P chromosome 10 open reading frame 37 pseudo 1350155 C6orf183 chromosome 6 open reading frame 183 389422 XM_374179,AL355305,AL359712 XP_374179,CAI14561,Q5T699 bA487F23.3 chromosome 6 open reading frame 183 protein-coding 1349220 C6orf184 chromosome 6 open reading frame 184 12477932,11181995 221261 XM_168053,XM_939850,XM_001725460,AL359711,CH471051,BC107113,BC107114 XP_168053,XP_944943,XP_001725512,CAI40694,EAW48357,AAI07114,A4QMU0 Hs.373914 bA425D10.3 protein-coding 1344430 C6orf185 chromosome 6 open reading frame 185 12477932,11181995,14574404,15489334,19862010,20139978 221262 AL359711,BC128118,BC128119,BC107113,BC107114,CH471051,NR_028595 CAI40699,AAI28119,A2VCL2,A4QMU0,AAI07114,CAI40694,EAW48357 Hs.373914,Hs.723571 C6orf184|C6orf185|MGC129804|MGC149201|bA425D10.3|bA425D10.7 pseudo 1343913 C6orf186 chromosome 6 open reading frame 186 728464 NM_001123364,AL050350,AL445068 NP_001116836,CAI42513,CAI22520,Q5JXM2 Hs.722171 FLJ45203|dJ71D21.2 D-aspartate oxidase-like|chromosome 6 open reading frame 186 protein-coding 1346500 C6orf187 chromosome 6 open reading frame 187 221299 XM_166305 1606936 C6orf191 chromosome 6 open reading frame 191 14574404 253582 NM_001010876,AL451046,CH471051 NP_001010876,CAH70899,EAW48075,Q5VVB8 Hs.448372 bA174C7.4 putative transmembrane protein C6orf191 protein-coding 1315874 C6orf192 chromosome 6 open reading frame 192 This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq] 19697161,15203218,12477932 116843 NM_052831,AL032821,AL137783,AX235945,CH471051,AJ420537,AK124442,AK289918,AK293853,BC069567,BC069570,CB218467,CD635228 NP_439896,CAI95705,CAI95706,CAI19370,CAI19371,CAC88243,EAW48012,EAW48013,BAG54039,BAF82607,BAH11611,AAH69567,AAH69570,Q5TBJ2,Q6NT16 Hs.347144 dJ55C23.6 MFS-type transporter C6orf192 protein-coding 1349077 C6orf193 chromosome 6 open reading frame 193 254751 XM_173173 1343779 C6orf195 chromosome 6 open reading frame 195 15489334,14702039,14574404,12477932 154386 NM_152554,AL138876,CH471087,AK056496,BC104007,BC104008,BC104009 NP_689767,CAI12219,EAW55081,BAB71197,AAI04008,AAI04009,AAI04010,Q96MT4 Hs.680574 FLJ31934|MGC120321|MGC120322|MGC120323|RP11-145H9.2|bA145H9.2 hypothetical protein LOC154386 protein-coding 1351435 C6orf2 chromosome 6 open reading frame 2 23737 1354340 C6orf201 chromosome 6 open reading frame 201 12477932,17207965 404220 NM_001085401,AL033383,CH471087,AF429972,AK124114,AK301893,BC047663,BC066986 NP_001078870,EAW55155,EAW55156,EAW55157,AAP97304,BAG54009,BAG63324,AAH47663,AAH66986,Q7Z4U5,ADQ32979 Hs.716731 MGC87625|dJ1013A10.5 OTTHUMP00000213693|OTTHUMP00000213725|hypothetical protein LOC404220|protein MGC87625 protein-coding 1343649 C6orf202 chromosome 6 open reading frame 202 387115 AL136968 CAI19704,Q5TBU7 dJ182O16.3 protein-coding 1346285 C6orf203 chromosome 6 open reading frame 203 16169070,16344560,15489334,14702039,14574404,12477932,11707072,11042152,20877624 51250 NM_016487,NM_001142468,NM_001142470,AL355586,CH471051,AF151064,AI193526,AK091564,BC010899,CR622886,DA167160 NP_057571,NP_001135940,NP_001135942,CAI16107,EAW48402,AAF36150,BAG52381,AAH10899,Q9P0P8 Hs.486084 FLJ34245|HSPC230|PRED31|RP11-59I9.1 HSPC230|hypothetical protein LOC51250 protein-coding 1346539 C6orf204 chromosome 6 open reading frame 204 12747765,12477932,9110174,8619474,20639392,19584346,19587794,19615732,20062063,20379614,21076409 387119 NM_001042475,NM_206921,AL390069,AL589993,CH471051,Z99496,AF131811,AF308284,AY313778,BC036553,BC048977,BC052778,BC064835,BC110835,BC126140,BC126142,AK302591,AL359634,BC045657,NG_021248,NM_001178035,AL133101 NP_996804,CAI14134,CAI14135,CAI16048,EAW48196,EAW48197,CAI21605,CAI21606,CAI21608,CAI21609,AAG48252,AAP81009,AAH48977,AAH52778,AAI10836,NP_001035940,AAI26141,AAI26143,Q3ZCQ5,Q5R353,Q5R354,Q5SZL2,AAI48460,AAI53055,BAG63844,CAM19612,CAM28259,NP_001171506 Hs.656959 MGC131785|NY-BR-15|RP11-57K17.2|bA57K17.2 OTTHUMP00000194463|hypothetical protein LOC387119|serologically defined breast cancer antigen NY-BR-15 protein-coding 1345612 C6orf208 chromosome 6 open reading frame 208 16344560,15489334,14702039,14574404,12477932 80069 NR_026780,AL049612,AL354892,CH471051,AK023224,BC101251,BC101252,BC101253,BC101396,DA918406 EAW47434,BAB14475,Q9H8X3 Hs.677182 FLJ13162|MGC120218|RP1-266L20.3|dJ182D15.1 miscrna 1313144 C6orf211 chromosome 6 open reading frame 211 17353931,18029348,18978678,15489334,14702039,14574404,12477932 79624 NM_024573,AL590543,CH471051,AJ420548,AK022972,AK298490,AK310840,AL110241,BC011348,CR610148 NP_078849,CAI10942,EAW47744,EAW47745,BAB14339,BAG60698,CAB53692,AAH11348,Q9H993 Hs.15929 DKFZp566I174|FLJ12910 hypothetical protein LOC79624 protein-coding 1349170 C6orf214 chromosome 6 open reading frame 214 14702039 401247 AK098012,AK098012,NM_207496 BAC05215,NP_997379 C6orf214|FLJ40693|bQB10J12.2|bQB230F21.2 FLJ40693 protein|non-protein coding RNA 243 protein-coding 1351690 C6orf215 chromosome 6 open reading frame 215 16702430,8838313 80866 AB088092,X90534 GT257 miscrna 2303453 C6orf217 chromosome 6 open reading frame 217 17668382,17473831,16773125,16344560,15169551,12477932,20580033,20452750 100131814 NR_026805,AL035604,AL133544,AL512426,BC040979,BC127000,BC127001,EU130902,AJ606314,AJ606326 P0C7V0 Hs.510098 C6orf217 miscrna 1602284 C6orf218 chromosome 6 open reading frame 218 12477932 221718 NR_027793,AL138885,CH471087,BC016666,BC017496,BC028118 EAW55254,EAW55255,EAW55256,AAH17496,AAH28118,Q8N0U6 Hs.173337 MGC40222 miscrna 1604735 C6orf221 chromosome 6 open reading frame 221 17913455,12787504,12477932 154288 NM_001017361,AC019205,CH471051,AB211062,AI638315,BC132844,BC137160 NP_001017361,EAW48773,BAD95489,AAI32845,AAI37161,Q587J8,ADR83511 Hs.128326 ECAT1 ES cell associated transcript 1|ES cell-associated transcript 1 protein protein-coding 1605195 C6orf222 chromosome 6 open reading frame 222 14574404,12477932 389384 NM_001010903,CH471081,BC140873,BX648558 NP_001010903,EAX03884,AAI40874,P0C671 Hs.162104 DKFZp779B1540 OTTHUMP00000216602|hypothetical protein LOC389384 protein-coding 1605842 C6orf223 chromosome 6 open reading frame 223 12477932 221416 NM_153246,AL109615,CH471081,BC029071,BC032706,BF515759,CR590009,CR590223,AW136542,BX342526,NM_001171992 NP_694978,EAX04238,EAX04239,AAH29071,AAH32706,Q8N319,ABM87657,ABW03908,ACT64510,ACT64511,NP_001165463 Hs.531926 MGC45491 OTTHUMP00000217344|hypothetical protein LOC221416 protein-coding 1606421 C6orf224 chromosome 6 open reading frame 224 12477932,11181995 222521 NM_173559,AL109947,CH471051,AK098657,BC101714,BC111948,BC143533 NP_775830,EAW48336,BAC05368,AAI01715,AAI11949,AAI43534,Q3MIS4 Hs.335027 FLJ25791|MGC126763|MGC138153 protein-coding 2298836 C6orf225 chromosome 6 open reading frame 225 12477932 619208 NM_001033564,CH471051,CS072351,AL049461,BC044912,BF110308,CR600964,Z99289 NP_001028736,EAW48271,CAI93489,AAH44912,Q4G0N7,CAX15196 Hs.591340 DKFZp586F0922 hypothetical protein LOC619208 protein-coding 1602792 C6orf226 chromosome 6 open reading frame 226 12477932 441150 NM_001008739,AL035587,AX061662,BC051007,BC060325,BC073804,BC094854 NP_001008739,CAC25022,AAH60325,AAH73804,AAH94854,Q5I0X4,ADR82728 Hs.571098 hypothetical protein LOC441150 protein-coding 1602153 C6orf227 chromosome 6 open reading frame 227 19851445 401253 Z93017,AK125740,NR_027908 BAC86269,Q6ZUF6 Hs.520075 FLJ43752 miscrna 1354388 C6orf25 chromosome 6 open reading frame 25 This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1304532 11544253,19143814,18955485,17678728,17311996,15848171,14702039,14656967,14574404,12665801,12477932,11076863,10384126,19913121,20628086,19851445 1304532 80739 NM_138277,NM_025260,NM_138272,NM_138273,NM_138274,NM_138275,AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AJ292259,AJ292260,AJ292261,AJ292262,AJ292263,AJ292264,AJ292265,AK092392,BC113719,BC113721,BC143850 NP_612121,NP_079536,NP_612116,NP_612117,NP_612118,NP_612119,AAD18075,CAB46080,CAI18406,CAI18407,CAI18408,CAI18409,CAI18412,CAI17813,CAI17814,CAI17815,CAI17816,CAI17818,CAM45767,CAM45768,CAM45769,CAM45770,CAM45771,BAB63378,CAM26092,CAM26093,CAM26094,CAM26095,CAM26096,EAX03492,EAX03493,EAX03494,EAX03495,EAX03496,EAX03497,EAX03498,EAX03499,CAQ07017,CAQ07018,CAQ07019,CAQ07020,CAQ07021,CAQ10105,CAQ10106,CAQ10107,CAQ10108,CAQ10109,CAQ08890,CAQ08891,CAQ08892,CAQ08893,CAQ08894,CAC83497,CAC83496,CAC83498,CAC83502,CAC83499,CAC83500,CAC83501,BAG52544,AAI13720,AAI13722,AAI43851,O95866,AAI11843,ADR82871 Hs.247879 G6b|MGC142279|MGC142281|NG31 OTTHUMP00000215228|immunoglobulin receptor|protein G6b protein-coding 1352760 C6orf26 chromosome 6 open reading frame 26 12477932,19851445,14656967,14574404,8812450,2477242 401251 BA000025,NM_001039651,AF134726,AL662834,AL662899,BX248133,CR759787,CR759915,CR925765,AI765046,AJ245661,AL122094,BC137541,BC137542,BU162048,CR596419 BAB63305,NP_001034740,AAD21821,CAI17728,CAI18428,CAM25673,CAM26109,CAM26110,CAQ10122,CAQ10123,CAQ07249,CAQ07250,CAQ10616,CAQ10617,AAI37542,AAI37543,Q5SSQ6 Hs.371225 DKFZp434C1615|NG23 OTTHUMP00000029178|protein G7d protein-coding 1342662 C6orf27 chromosome 6 open reading frame 27 19204726,19143814,14656967,14574404,12477932,10803853,8812450,19851445,20466734 80737 NM_025258,AF134726,AL662834,AL662899,BA000025,BX248133,CH471081,CR759787,CR759915,CR925765,AJ245418,AK304058,AK304266,BC114625,DC323829 NP_079534,AAD21820,CAI17731,CAI18431,BAB63304,CAM26111,EAX03521,EAX03522,CAQ10124,CAQ07251,CAQ10618,CAB52192,BAG64965,BAG65129,Q9Y334,AAI67823 Hs.558553 FLJ25524|G7c|NG37 protein G7c protein-coding 1352584 C6orf3 chromosome 6 open reading frame 3 10903453 23736,23736 AF136408 Hs.571184 C6UAS|C6orf3 miscrna 1316350 C6orf35 chromosome 6 open reading frame 35 16344560,14702039,12477932,11181995,8889548 729515 NM_018452,AL390955,AL607068,AX875619,BX284653,CH471051,CS185616,CT967309,AA704900,AF161405,AF217510,AI803082,AK000891,AW663695,BC029130,BC146893,BC146895,BE047087,BG055128,BM985312,BX099608,CD244433,CR595293,CR626670,DA684766,BX092637,DA368186,DA407942 NP_060922,CAI23394,CAI23395,CAI17123,CAE88944,EAW47676,EAW47677,CAJ42797,AAF28965,AAF67621,BAA91409,AAH29130,AAI46894,AAI46896,Q9NWH2 Hs.157212 BM033|FLJ10029|MGC34308 hypothetical protein LOC729515|uncharacterized bone marrow protein BM033 protein-coding 1353225 C6orf36 chromosome 6 open reading frame 36 140785 Z93017 protein-coding 1345357 C6orf38 chromosome 6 open reading frame 38 387055 AA913908,AI688709 Hs.369401 C6orf39|bA373N24.1 protein-coding 1347530 C6orf41 chromosome 6 open reading frame 41 12477932 100133205 NR_026775,AL133255,AL590062,AI028608,BC031943,BC044768,BX647648 Hs.526951 C6orf41|bA373D17.1 miscrna 1349360 C6orf42 chromosome 6 open reading frame 42 394256 1352614 C6orf43 chromosome 6 open reading frame 43 493815 1354435 C6orf47 chromosome 6 open reading frame 47 19913121,20628086,19851445,19143821,18835879,17081983,15489334,14667819,14656967,14574404,12477932,2477242,16169070 57827 CR753842,BX511262,CR759761,NM_021184,AF129756,AL662801,AL662899,AL670886,AL805934,BA000025,CH471081,CR354443,AJ245433,BC012950,BC063584 CAM45817,CAQ06564,CAQ10871,NP_067007,AAD18083,CAI18277,CAI18383,CAI17791,CAI18514,BAB63388,EAX03465,CAQ06994,CAB51603,AAH12950,O95873,Q9UMP7 Hs.247323 D6S53E|G4|NG34 G4 protein protein-coding 1344247 C6orf48 chromosome 6 open reading frame 48 14759258,12477932,8096093,19851445,20041166,19913121,20628086 50854 NM_001040437,NM_001040438,AL662834,AL671762,AL929592,BA000025,CH471081,CR388202,CR759915,AJ249731,AJ249732,AK311989,BC000706,BC017660,BC066330,BQ920527,BT007334,CD249104,CR590413,CR608389 NP_001035527,NP_001035528,CAI17740,CAI18218,CAI18468,BAB63298,EAX03530,EAX03531,EAX03532,EAX03533,EAX03534,EAX03535,CAQ09511,CAQ07260,CAB56506,CAB56507,CAB56508,AAH00706,AAH17660,AAP35998,Q9BW21,Q9UBA6,Q9UBA7 Hs.714250,Hs.640836 D6S57|G8 OTTHUMP00000029250|OTTHUMP00000029253|protein G8 protein-coding 1353882 C6orf50 chromosome 6 open reading frame 50 14574404 57052 Q9HD87 AL138831,AF210650 AAF99586,CAI20479,Q9HD87 Hs.150858 KIAA0536|NAG19 protein-coding 1348700 C6orf52 chromosome 6 open reading frame 52 737633 12477932 737633 347744 NR_026736,NR_026737,NM_001145020,AL358777,CH471087,AI376550,AI621292,AI809192,AW183566,AW293245,BC016820,BX280692 NP_001138492,CAI14000,CAI14001,EAW55264,AAH16820,Q5T4I8 Hs.61389 OTTHUMP00000016016|OTTHUMP00000016017|putative uncharacterized protein C6orf52 protein-coding 1353712 C6orf54 chromosome 6 open reading frame 54 10382971 26236 NM_014354,AB016899 1319485 C6orf57 chromosome 6 open reading frame 57 15489334,14574404,12477932,17207965,20877624 135154 NM_145267,AL583856,CH471051,CS300728,BC018085,BC104649,BG703280,CF597237 NP_660310,CAH70444,EAW48810,EAW48811,EAW48812,CAK32392,AAH18085,AAI04650,Q5VUM1,ACT64428,ACT64429,ADQ33164 Hs.418495 MGC104225 hypothetical protein LOC135154 protein-coding 1350193 C6orf58 chromosome 6 open reading frame 58 16740002,15489334,14574404,12477932 352999 NM_001010905,AL583806,CH471051,AK303850,BC062712 NP_001010905,CAH70094,EAW48094,BAG64792,AAH62712,Q6P5S2 Hs.226268 MGC72003 hypothetical protein LOC352999 protein-coding 1348313 C6orf59 chromosome 6 open reading frame 59 15489334,14702039,14574404,12477932,11230166 79992 NR_024277,AL109942,CH471051,AK026765,AL136708,BC101668,BC112291 EAW47584,BAB15545,CAB66643,Q9H0P7 Hs.664873 C6orf59|FLJ23112 miscrna 1347534 C6orf61 chromosome 6 open reading frame 61 16226853,14702039,14574404 54844 XM_927492,AL132874,AK000177,BN000882 Q2KHJ0,Q8N5S5,Q9NXL9,XP_932585,CAC05409,BAA90991,CAJ70648 Hs.279008 FLJ20170|MCM9|dJ329L24.1 protein-coding 1347069 C6orf62 chromosome 6 open reading frame 62 737633 11256614,15489334,14702039,14574404,12477932,11230166,16169070 737633 81688 NM_030939,AL031775,AL133264,CH471087,AB075502,AJ420475,AK022681,AK301718,AL136632,AY598792,BC040260,BC047866,CR457292,CR533486 NP_112201,CAI20135,CAI20136,CAI20341,CAI20342,EAW55461,EAW55462,EAW55463,EAW55464,BAE45752,BAB14175,BAG63189,CAB66567,AAT09203,AAH47866,CAG33573,CAG38517,Q9GZU0,ACE87241,ACE86559 Hs.9676 DKFZp564G182|FLJ12619|Nbla00237|XTP12|dJ30M3.2 HBV X-transactivated protein 12|hypothetical protein LOC81688 protein-coding 1322030 C6orf64 chromosome 6 open reading frame 64 18029348,15489334,14702039,14574404,12477932,11230166,17207965 55776 AL035690,CH471081,CS072431,AF086405,AK001963,AL136839,BC022007,CR593115,CR621024,CR627244,NM_018322 NP_060792,CAB71176,CAD92546,EAX03976,EAX03977,CAI93569,BAA92004,CAB66773,AAH22007,Q9NPB0,ACE87655,ACE86965,ADQ32782 Hs.58382 DKFZp434H012|FLJ11101 hypothetical protein LOC55776 protein-coding 1353600 C6orf7 chromosome 6 open reading frame 7 89758 1319689 C6orf70 chromosome 6 open reading frame 70 14702039,12477932,12107410 55780 NM_018341,AL354892,CH471051,AI522177,AK001369,AK002014,AK021520,BC044812,CA396814,AK294090 NP_060811,CAI19974,CAI19975,CAI19976,EAW47436,EAW47437,EAW47438,BAA91653,BAA92035,AAH44812,Q5T6L9,Q5T6M3,AAI48359,BAG57431 Hs.47546 FLJ11152|dJ266L20.3 OTTHUMP00000017683|transmembrane protein C6orf70 protein-coding 1320268 C6orf72 chromosome 6 open reading frame 72 15489334,12975309,12477932,14574404 116254 NM_138785,AL078581,CH471051,AK289402,AK295690,AK308844,AK308994,AK311061,AK315729,AY358952,BC014320,CR595295,CR595369 NP_620140,CAB88112,CAI19509,EAW47796,EAW47797,EAW47798,BAF82091,BAH12157,BAG38084,AAQ89311,AAH14320,Q9NU53 Hs.438872 dJ12G14.2 hypothetical protein LOC116254 protein-coding 1314376 C6orf81 chromosome 6 open reading frame 81 17081983,15489334,14702039,14574404,12477932 221481 NM_145028,AL157823,CH471081,AK058119,BC033033 NP_659465,CAI21635,CAI21636,EAX03844,EAX03845,BAB71672,AAH33033,Q5T9G4 Hs.533066 FLJ25390 hypothetical protein LOC221481 protein-coding 1353836 C6orf88 chromosome 6 open reading frame 88 441123 XM_930599,XM_496791,AL035696 XP_935692,XP_496791 C6orf88|dJ24O22.2 miscrna 1348833 C6orf89 chromosome 6 open reading frame 89 11230166,17461456,16381901,15489336,15489334,14702039,14574404,12975309,12477932,11076863 221477 NM_152734,AL122034,CH471081,AJ420498,AJ420511,AK001957,AK025213,AK058086,AK172780,AK300351,AK315984,AY358637,BC009380,BC021804,BC023605,BC032796,BC050582,BC095423,BC105946,BC105947,BC107489,BX538108,BX647220,CR591566,CR610311,DQ487761 NP_689947,CAI23297,CAI23298,CAI23299,CAI23300,EAX03919,EAX03920,EAX03921,EAX03922,BAB71656,BAD18761,BAG62093,BAH14355,AAQ89000,AAH23605,AAH95423,AAI05947,AAI05948,AAI07490,CAD98021,ABF61801,Q19RM2,Q5TDC5,Q6UWU4,CAL38248 Hs.433381 FLJ25357|MGC126060|MGC126061|MGC126062 OTTHUMP00000016311|OTTHUMP00000016313|hypothetical protein LOC221477 protein-coding 1345123 C6orf92 chromosome 6 open reading frame 92 387076 1349089 C6orf94 chromosome 6 open reading frame 94 14574404,12477932 153918 NM_001013623,AL049844,CH471051,BC146950,BC146969,BC171862,DB515645 NP_001013645,CAI21444,CAI21445,EAW47857,AAI46951,AAI46970,AAI71862,Q5TFG8 Hs.121188 FAM164B|dJ468K18.5 OTTHUMP00000017341|family with sequence similarity 164, member B|hypothetical protein LOC153918 protein-coding 1322133 C6orf97 chromosome 6 open reading frame 97 19079262,18445777,16344560,15489334,14702039,14574404,12477932,9373149,8889548,8125298,19219042,19801982,20200978,20453838,20661439 80129 NM_025059,AL359494,AL590543,CH471051,AK026958,AK027300,AK225330,BC035003,BC060803,BI562667,BM677624,BM984518,BQ706948,CB306458,DB232703,NG_021198 NP_079335,CAH71980,CAI10943,EAW47743,BAB15602,BAB55025,AAH60803,Q8IYT3 Hs.660044 FLJ23305|bA282P11.1 hypothetical protein LOC80129 protein-coding 1354353 C6orf98 chromosome 6 open reading frame 98 387079 NM_001099267 NP_001092737 dJ45H2.2 protein-coding 1350961 C6orf99 chromosome 6 open reading frame 99 14574404 387080,100130967 AL627422,AW138390,BF688381,NM_001195032 CAI95789,CAI95790,NP_001181961,Q4VX62 Hs.32804 yR211F11.1 OTTHUMP00000017513|putative uncharacterized protein C6orf99 protein-coding 1317399 C7 complement component 7 C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial infection. [provided by RefSeq] 1599528,1599522,1599523,1580863 16335952,15889368,15879120,15489334,15383587,14760718,12595902,12477932,11378347,10886241,10882776,10551839,9856499,9218625,8892662,8871666,8814254,8364540,8345200,7814888,7730625,7523157,2792129,1672663,1517503,1387399,17266113,3052276,18029348,3335508,19344414,19221116,19179470,18842294,19913121,20628086,19162005,19419965,19423540,19834535,19864026,19931914,20237496,20406964,20438785 1599528,1599522,1599523 730 NM_000587,NG_011692,AC026732,AC114967,CH471119,X86328,X86344,AK290349,AK304848,AK312737,BC025402,BC041807,BC063851,BC065305,CR600042,CR612073,J03507,Y11720 ADR82762,NP_000578,EAW56007,EAW56008,CAA60121,BAF83038,BAG65588,BAG35608,AAH25402,AAH63851,AAA51861,CAA72407,P10643,Q05CI3,Q8TCS7 Hs.78065 complement component C7 protein-coding 1317700 C7orf10 chromosome 7 open reading frame 10 19197348,20379614,18926513,15489334,14702039,12853948,12690205,12477932,11829489,9847074,8889548,20877624,19913121,20628086 79783 AC004988,AC005030,AC005160,AC006023,AC025536,AC026866,AC079149,AC092030,CH236951,CH471073,AB014767,AF397013,AK021870,AK296048,AK298516,AK299133,AK307935,AK308764,BC098117,BC098261,BC098310,BC098318,NM_024728,BM668297,NG_023422,NM_001193311,NM_001193312,NM_001193313 NP_079004,AAD26979,AAS02000,AAS01999,AAS07506,EAL24000,EAW94135,EAW94136,EAW94137,BAB87807,AAL76418,BAB13922,BAG58812,BAH12804,BAG61185,AAH98117,AAH98261,AAH98310,AAH98318,Q4KMW8,Q75MI5,Q75MS9,Q75MU8,Q9HAC7,Q9Y6U8,NP_001180240,NP_001180241,NP_001180242 Hs.586313 DERP13|FLJ11808|FLJ53872|ORF19 CaiB/baiF CoA-transferase family protein C7orf10|OTTHUMP00000207230|OTTHUMP00000207231|Russel-Silver syndrome candidate|dermal papilla derived protein 13|dermal papilla-derived protein 13 protein-coding 1344320 C7orf11 chromosome 7 open reading frame 11 17310276,17081983,16977596,16964243,15645389,15489334,12690205,12477932,11829489,17207965 136647 NM_138701,AC006023,AX048113,CH236951,CH471073,AK290098,BC026265,CR617993,CR618070,BG501110,NG_016989 NP_619646,EAL23999,EAW94134,BAF82787,AAH26265,Q8TAP9,ADQ32251 Hs.654989 ABHS|ORF20|TTDN1 Russell-Silver syndrome region|TTD non-photosensitive 1 protein protein-coding 1351072 C7orf13 chromosome 7 open reading frame 13 14702039,12690205,12477932,11890671 129790 NR_026865,AC005534,CH236954,CH471149,AF063598,AF439977,AI168080,AK056371,BC031037,BC050364,BC070228,CR592417 EAL23919,EAX04550,AAG43157,AAM33252,Q8NI28,Q9H3I6 Hs.647014 MY040 miscrna 1344493 C7orf16 chromosome 7 open reading frame 16 10051666,16344560,15489334,12955585,12853948,12477932,9920894,9847074,20379614 10842 DA061079,NG_023417,NM_006658,NM_001145123,AACC02000087,AC006325,CH471073,AF071789,AF097730,AK293478,AK312989,BC028094,DB039499 NP_006649,NP_001138595,EAL24441,AAF03537,EAW93983,AAD12588,AAD13030,BAG56969,BAG35826,AAH28094,O96001 Hs.227011 GSBS G-substrate protein-coding 1323234 C7orf20 chromosome 7 open reading frame 20 737633 17353931,18249086,16169070,15489334,14702039,12690205,12477932,10810093,8889548,19615732,20106980,16341674,20676083 737633 51608 BC003550,BG109419,BM843540,BM980767,CR612389,NM_015949,AC073957,AC099731,CH236965,CH471144,AF132954,AK023560,AK024305,AK097899,AK125863,AL133014 CAB61355,AAH03550,Q7L5D6,NP_057033,EAL23708,EAW87179,EAW87180,AAD27729,BAG51289,BAG53546,BAG54258 Hs.107387 C7orf20|CEE|CGI-20|TRC35 Golgi to ER traffic protein 4 homolog|H_NH1244M04.5|OTTHUMP00000200021|conserved edge expressed protein|conserved edge protein|conserved edge-expressed protein|transmembrane domain recognition complex 35 kDa subunit|transmembrane domain recognition complex, 35kDa protein-coding 1349104 C7orf23 chromosome 7 open reading frame 23 15556294,15489334,12690205,12477932,20351715 79161 NM_024315,AC005076,CH236949,CH471091,AK313794,BC002837,BT006973 NP_077291,EAL24179,EAW76960,EAW76961,BAG36531,AAH02837,AAP35619,Q9BU79 Hs.619593 MGC4175|MM-TRAG MDR1 and mitochondrial taxol resistance associated|OTTHUMP00000205314|OTTHUMP00000205316|transmembrane protein C7orf23 protein-coding 1317752 C7orf25 chromosome 7 open reading frame 25 12477932,12446740,9373149,8125298,16169070,17207965 79020 NM_001099858,NM_024054,AC010132,CH236951,CH471073,AK024820,AK225194,AK298865,BC000769,BC001845,CR592505,DC303669,DC366585 NP_001093328,NP_076959,EAL24004,EAW94148,EAW94149,EAW94150,BAB15019,BAG60985,AAH00769,AAH01845,Q9BPX7,ADQ31787 Hs.709957 FLJ21167|MGC2821 OTTHUMP00000207371|OTTHUMP00000207372|OTTHUMP00000207374|hypothetical protein LOC79020 protein-coding 1317382 C7orf26 chromosome 7 open reading frame 26 15489334,14702039,12477932,16169070 79034 NM_024067,AC079742,CH236963,CH878731,AK056149,BC001076,BC005121,CR591715,CR620057 NP_076972,EAW55021,EAW55022,BAB71104,AAH01076,AAH05121,Q96N11 Hs.487511 MGC2718 hypothetical protein LOC79034 protein-coding 1318809 C7orf27 chromosome 7 open reading frame 27 15342556,16964243,15489334,14702039,12477932,16452482 221927 AI963076,BP363179,NM_152743,AC092488,CH236953,CH471144,AK024482,AK131083,AK131097,AK311144,AL133088,BC007209,BC015632,BC023561,BC040704,CR604410 NP_689956,EAL23957,EAW87255,EAW87256,EAW87257,EAW87258,EAW87259,EAW87260,BAB15772,BAC85133,BAC85147,CAB61405,AAH07209,AAH15632,AAH23561,AAH40704,Q6PJG6,Q6ZNJ8,Q6ZNL1,Q9H7L8 Hs.520623 BAAT1|MGC22916 BRCA1-associated protein required for ATM activation protein 1|HEAT repeat-containing protein C7orf27 protein-coding 1315007 C7orf28A chromosome 7 open reading frame 28A 20562859,10810093,9847074,20305638,15146197,14702039,12477932,12853948,15489334,17897319,18220336,18669648,19413330,19608861 51622 NM_015622,AF151801,AK090536,BC067810,BC132749,BC132751,BI546694,CN310516,CR590431,CR595861,CR597206 NP_056437,AAD34038,AAI32750,AAI32752,Q7L8P3,P86791 Hs.530000 C7orf28A|CGI-43|H_DJ1163J12.2 CCZ1 vacuolar protein trafficking and biogenesis associated homolog|H_NH0577018.2|hypothetical protein LOC51622|vacuolar fusion protein CCZ1 homolog protein-coding 1351383 C7orf28B chromosome 7 open reading frame 28B 737633 15342556,15489334,14702039,12853948,12477932,10810093 737633 221960 BP341272,CA413377,NM_198097,AC004983,AC079882,AK000993,AK292326,AK296026,AL050215,BC010130,BC108302,CR602854 P86790,NP_932765,AAQ96868,AAQ93370,BAF85015,BAG58794,CAB43318,AAH10130 Hs.567779 DKFZp586I1023|FLJ60592|H_NH0577018.2|MGC19819 H_DJ1163J12.2|hypothetical protein LOC221960|vacuolar fusion protein CCZ1 homolog-like protein-coding 1321295 C7orf29 chromosome 7 open reading frame 29 15489334,12853948,12690205,12477932,17207965 113763 NM_138434,AACC02000108,AC005586,CH471173,AL832660,BC011406 NP_612443,EAL24471,AAP21891,EAW54126,AAH11406,Q96FA7,ADQ31596 Hs.655915 hypothetical protein LOC113763 protein-coding 1315834 C7orf30 chromosome 7 open reading frame 30 16730941,15489334,12690205,12477932 115416 NM_138446,AC005082,CH236948,CH471073,AK127742,AK316559,BC012331 NP_612455,EAL24258,EAW93785,BAG54562,BAG38148,AAH12331,Q96EH3 Hs.87385 hypothetical protein LOC115416 protein-coding 1349806 C7orf31 chromosome 7 open reading frame 31 15489334,14702039,12853948,12477932,9847074 136895 AC004129,CH236948,CH471073,AK097248,AK098189,BC015397,BC043269,BC060879,BI830207,NM_138811,BX640851,CR606692 NP_620166,AAP22338,EAL24238,EAW93825,EAW93826,EAW93827,EAW93828,BAC04985,BAC05255,AAH15397,AAH43269,AAH60879,CAE45919,Q8N865 Hs.122055 hypothetical protein LOC136895 protein-coding 1342559 C7orf33 chromosome 7 open reading frame 33 15489334,12690205,12477932 202865 NM_145304,AACC02000041,AC005229,CH471146,BC021251 AAH21251,Q8WU49,NP_660347,EAL24420,EAW80075,EAW80076,EAW80077 Hs.352212 hypothetical protein LOC202865 protein-coding 1345356 C7orf34 chromosome 7 open reading frame 34 737633 16189514,15489334,12690205,12477932 737633 135927 NM_178829,AC099652,CH236959,CH471198,AB083483,AB083484,AI990561,BC014596 NP_849151,EAL23778,EAW51894,EAW51895,BAB88941,BAB88942,AAH14596,Q96L11 Hs.239676 ctm-1 hypothetical protein LOC135927 protein-coding 1315329 C7orf36 chromosome 7 open reading frame 36 737633 19615732,16169070,15489334,12853948,12690205,12477932,9847074 737633 57002 NM_020192,AC011290,CH236951,CH471073,AF226046,AK314937,BC022043,CR457198 NP_064577,AAQ96864,EAL23993,EAW94120,AAF86946,BAG37443,AAH22043,CAG33479,Q9NRH1,ABM83755,ABM87073,ABM87074 Hs.83313 GK003 OTTHUMP00000207664|hypothetical protein LOC57002 protein-coding 1604968 C7orf38 chromosome 7 open reading frame 38 This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. [provided by RefSeq] 16314882,15489334,14702039,12690205,12477932,10607616 221786 NM_145111,NG_000004,AC005020,CH236956,CH471091,AK024526,AK094113,AK290724,AK315452,AL713672,BC009536,BC040214,BC126337,BC130371,CV569355 NP_659802,EAL23872,EAW76652,EAW76653,BAC04288,BAF83413,BAG37839,CAD28478,AAH40214,AAI26338,AAI30372,Q8TCP9,ADR83215,ADR83377 Hs.596587 C7orf38|DKFZp727G131|FLJ36794 OTTHUMP00000210468|hypothetical protein LOC221786 protein-coding 1346647 C7orf4 chromosome 7 open reading frame 4 12853948,10329000 64433 AC073871,CH236954,NR_024119 C7orf4 miscrna 1601702 C7orf40 chromosome 7 open reading frame 40 14702039,12690205,12477932 285958 NR_003697,AC004847,CH236960,AK096179,BC092459 Hs.25892 FLJ38860 miscrna 1603878 C7orf41 chromosome 7 open reading frame 41 14702039,12690205,12477932,9847074,17213182,20379614 222166 NM_152793,AACC02000087,AC007036,CH471073,AK055466,AK096533,AK098769,AK294982,AL834391,AY054121,BC045592,BC062423,BI560774,CR599980,DT217816 NP_690006,EAL24456,EAW93934,EAW93935,EAW93936,BAC04811,BAC05408,BAG58051,CAD39053,AAL14866,Q8N3F0,AAI52892,AAI56840 Hs.200100 Ells1|FLJ25903 hypothetical protein LOC222166 protein-coding 1602880 C7orf42 chromosome 7 open reading frame 42 14702039,12690205,12477932,9373149,8125298,17207965 55069 NM_017994,AC073335,AC079920,CH236961,CH471140,AK000961,AK023152,AK222774,BC008675,BC010519,BC012562,BC022841,BC041764,CR597424,CR599630,CR601188,CR605328,CR617678,CR619707,CR621623,CR625939 NP_060464,EAL23731,EAX07907,EAX07908,EAX07909,BAA91444,BAD96494,AAH08675,AAH12562,Q9NWD8,ADQ33145,AAH10519,AAH41764 Hs.488478 FLJ10099|FLJ13090 hypothetical protein LOC55069 protein-coding 1605367 C7orf43 chromosome 7 open reading frame 43 16381901,15489336,15489334,14702039,12690205,12477932,11256614,11230166,11076863,16169070 55262 AK054872,AK302342,AK310170,AL136555,BC002749,BC015722,BC094727,NM_018275,AC073842,CH236956,CH471091,AK001787 BAG51437,BAG63670,CAB66490,AAH02749,AAH15722,Q8WVR3,CAL37853,NP_060745,EAL23848,EAW76580,EAW76581,EAW76582,EAW76583,BAA91911 Hs.533139 DKFZp761G0712|FLJ10925 OTTHUMP00000206843|OTTHUMP00000206870|hypothetical protein LOC55262 protein-coding 1601863 C7orf44 chromosome 7 open reading frame 44 17207965,14702039,12477932 55744 CR605376,CR608336,AC005189,CH236951,CH471073,AK001665,AK021905,AK023007,AK023053,AK097203,AK127933,AK129690,AK293043,AK309315,BC001743,BC056884,CR595635,CR595881,CR603814,NM_018224 ADQ33122,Q9GZY4,NP_060694,EAW94165,EAW94166,EAW94167,EAW94168,EAW94169,EAW94170,BAA91821,BAB13932,BAB14356,BAB14379,BAG53433,BAF85732,AAH56884 Hs.655165,Hs.658441,Hs.654779 FLJ10803 OTTHUMP00000194892|OTTHUMP00000194893|OTTHUMP00000207458|OTTHUMP00000207459|OTTHUMP00000207461|OTTHUMP00000207464|OTTHUMP00000207465|OTTHUMP00000207466|hypothetical protein LOC55744 protein-coding 1604235 C7orf45 chromosome 7 open reading frame 45 17207965,15489334,14702039,12690205,12477932 136263 NM_145268,AC024085,AC087071,CH236950,CH471070,AK097635,BC017587,HC006848 ADQ31904,NP_660311,EAL24093,EAW83750,BAC05126,AAH17587,Q8WWF3,CBH19229 Hs.351816 FLJ40316 hypothetical protein LOC136263 protein-coding 1604475 C7orf46 chromosome 7 open reading frame 46 12477932,8889548,17207965 340277 NM_199136,NM_001127364,NM_001127365,AC006026,CH236948,CH471073,AK127774,AL832127,BC026000,BC042034,BC063130,BI549491,BU685256,BX106087,CA867596 ADQ32129,NP_954587,NP_001120836,NP_001120837,EAL24251,EAW93797,EAW93798,EAW93799,EAW93800,EAW93801,EAW93802,EAW93803,EAW93804,AAH26000,AAH42034,AAH63130,A4D161 Hs.592178 DKFZp686F0810|FLJ45875|MGC72075 OTTHUMP00000202220|hypothetical protein LOC340277 protein-coding 1604503 C7orf47 chromosome 7 open reading frame 47 15489334,12690205,12477932 221908 CR590290,CR592195,CR596687,NM_145030,AC092849,CH236956,CH471091,BC026269 Q8TAP8,NP_659467,EAL23833,EAW76532,AAH26269 Hs.413359 MGC22793 hypothetical protein LOC221908 protein-coding 1602100 C7orf49 chromosome 7 open reading frame 49 17043244,16344560,12690205,12477932 78996 NR_024185,NR_024186,NM_024033,AC083862,CH236950,CH471070,AK026103,AK130795,BC000168,BC067350,CR596076,CR611158,CR618418,CR623550,CR626422,DB129229 NP_076938,EAL24064,EAW83840,EAW83841,BAC85431,AAH00168,AAH67350,Q9BWK5 Hs.725212 FLJ22450|FLJ27285|MGC5242|MRI OTTHUMP00000208012|modulator of retrovirus infection homolog protein-coding 1603950 C7orf50 chromosome 7 open reading frame 50 16341674,16189514,15146197,12477932,8889548,18482256 84310 NM_032350,NM_001134395,NM_001134396,AC073957,AC091729,CH236953,CH236965,CH471144,AF495721,BC006224,BC025971,BM676072,BM763235,CN261680,CR596689,CR600810,CR602461,CR610454,CR622011,CR622684 NP_115726,NP_001127867,NP_001127868,EAW87188,EAW87189,EAW87190,AAQ06675,AAH06224,AAH25971,Q8TAS9,Q9BRJ6 Hs.653258 MGC11257|YCR016W OTTHUMP00000200084|OTTHUMP00000200094|OTTHUMP00000213381|hypothetical protein LOC84310|hypothetical protein mgc11257 protein-coding 1602420 C7orf51 chromosome 7 open reading frame 51 14702039,12690205,12477932 222950 NM_173564,AC069281,AC092849,CH236956,CH471091,AK094857,AK124773,AY375450,BC041433 NP_775835,EAL23830,EAW76526,BAC04437,BAC85942,AAQ83634,Q6ZVC0 Hs.320086 FLJ37538 OTTHUMP00000207732|hypothetical protein FLJ37538 protein-coding 1601690 C7orf52 chromosome 7 open reading frame 52 14702039,12477932,8889548 375607 NM_198571,AC004876,CH471197,AK096556,AL831911,BC037583,BC104841,BU740913 NP_940973,EAW50202,BAC04815,CAD38574,AAI04842,Q8N8M0 Hs.213044 DKFZp547K159|FLJ39237 OTTHUMP00000211485|putative N-acetyltransferase C7orf52 protein-coding 1606916 C7orf53 chromosome 7 open reading frame 53 16344560,14702039,12690205,12477932,8889549 286006 NM_001134468,NM_182597,AC005192,CH236947,CH471070,AA121517,AK096894,BC031976,BC126149,BC130568,DA894907,DA898266,DB456503 NP_001127940,NP_872403,EAL24374,EAW83464,EAW83465,BAC04886,AAI26150,AAI30569,Q8N8F7,ADR82831 Hs.396189 FLJ39575|MGC161427|MGC163440|MGC42850 hypothetical protein LOC286006 protein-coding 1602003 C7orf54 chromosome 7 open reading frame 54 14702039,12690205,12477932 27099 NR_027330,AC008039,CH236947,AF095687,AF191492,AK024176,BC093748,BC112141 EAL24317,AAC96312,AAG28385,BAG51268 Hs.657377 MGC138346|NAG8|NSG-X miscrna 1606950 C7orf55 chromosome 7 open reading frame 55 12853948,12477932,11076863,8889548,20877624,16381901,15489336,14702039,16712791 154791 NM_197964,AC083880,CH236950,CH471070,AF161386,AK093018,BC008467,BM672187,CB125801 NP_932068,AAS07478,EAW83912,EAW83913,EAW83914,EAW83915,AAF28946,AAH08467,Q96HJ9,CAL38025,ABM84075,ABM87443 Hs.718441 FLJ35699|FMC1|HSPC268 formation of mitochondrial complexes 1 homolog protein-coding 1642900 C7orf57 chromosome 7 open reading frame 57 19193627,12477932,20379614 136288 NM_001100159,AC069279,CH236958,BC031107,BC045737 NP_001093629,AAH31107,AAH45737,Q86XB5,Q8NEG2 Hs.258357 OTTHUMP00000208689|OTTHUMP00000208690|hypothetical protein LOC136288 protein-coding 1605333 C7orf58 chromosome 7 open reading frame 58 11256614,16381901,16341674,15489336,14702039,12975309,12853948,12477932,11230166,11076863,9373149,8125298,7829101,20031566,20379614 79974 AL832619,AL832638,AY358220,AY780785,BC017764,BC018685,BC030538,BC046360,BI496654,BQ082412,AK289978,NM_024913,NM_001105533,AC004537,AC006364,AC006976,AC073145,CH236947,CH471070,AK025639,AK055624,AK130323,AK225313 BAF82667,CAD89961,CAD89953,AAQ88587,AAV98355,AAH30538,AAH46360,A4D0V7,Q5MJQ4,Q75MM9,Q86SV3,Q9H6Q5,CAL37422,NP_079189,NP_001099003,AAS02027,EAL24348,EAW83550,EAW83551,EAW83552,EAW83553,EAW83554,EAW83555,BAB15198,BAB70974 Hs.189652 FLJ21986|FLJ26813 OTTHUMP00000211231|OTTHUMP00000211233|hypothetical protein LOC79974 protein-coding 1604690 C7orf59 chromosome 7 open reading frame 59 12477932 389541 NM_001008395,AC073842,AX588498,CH236956,CH471091,BC063401,BC105609,BC130553,BC130559,BE733059,BG715626,CR622617 NP_001008396,CAD61554,ADR82787,EAW76584,EAW76585,AAH63401,AAI05610,AAI30554,AAI30560,Q0VGL1 Hs.406520 MGC163425|MGC163431 OTTHUMP00000210553|hypothetical protein LOC389541 protein-coding 1606951 C7orf60 chromosome 7 open reading frame 60 18951430,16344560,14702039,12477932,20379614 154743 NM_152556,AC018464,AC073183,CH236947,CH471070,AF274937,AK056380,AK299901,AL834437,BC114615,DA738444 NP_689769,EAW83473,EAW83474,BAB71169,BAG61743,CAD39097,AAI14616,Q1RMZ1 Hs.489734 FLJ31818 OTTHUMP00000207495|hypothetical protein LOC154743 protein-coding 1602147 C7orf61 chromosome 7 open reading frame 61 12690205,12477932,17207965 402573 NM_001004323,AC092849,CH236956,BC031966 NP_001004323,EAL23832,AAH31966,Q8IZ16,ADQ32435 Hs.632306 OTTHUMP00000196705|hypothetical protein LOC402573 protein-coding 1603879 C7orf62 chromosome 7 open reading frame 62 12690205,12477932,17207965 219557 NM_152706,AC002127,CH236949,CH471091,BC028365,HC007144,HC044757 Q8TBZ9,NP_689919,EAL24169,EAW76902,AAH28365,CBH19377,CBH30708,ADQ31577 Hs.112877 MGC26647 hypothetical protein LOC219557 protein-coding 1605631 C7orf63 chromosome 7 open reading frame 63 18288132,14702039,12477932,8889548,20379614 79846 BC142655,BF112239,BU676209,DC402406,NM_001039706,NM_001160138,AC002064,CH236949,AK024715,AK093991,AK302636,AK303034,AL833446,AY349356,BC036351,BC132771,BC140742,BC141834 AAI41835,AAI42656,A5D8W1,NP_001034795,NP_001153610,BAB14972,BAG63878,BAG64159,AAQ56720,AAH36351,AAI32772,AAI40743 Hs.657403 FLJ21062 OTTHUMP00000212899|hypothetical protein LOC79846 protein-coding 1602202 C7orf64 chromosome 7 open reading frame 64 12477932,11230166,8889548,16169070,15383276,14702039 84060 NM_032120,AC005156,AC007566,CH236949,CH471091,AF161422,AK054777,AK294626,AK294812,AL136619,BC020919,BC033561,BC044570,BC065716,BC104865,BC104867,BC143576,BM970879,CR533549,CR597840,CR606045,CR933641,CR936726 NP_115496,EAL24148,EAW76838,EAW76839,AAF28982,BAB70806,BAG57807,BAH11891,CAB66554,AAH20919,AAH33561,AAH44570,AAI04866,AAI04868,AAI43577,CAG38580,CAI45942,Q5RL73,Q6FI77,Q9P078 Hs.21590 DKFZP564O0523|DKFZp686D1651|HSPC304 OTTHUMP00000215752|hypothetical protein LOC84060 protein-coding 2303475 C7orf65 chromosome 7 open reading frame 65 16344560,12690205 401335 NM_001123065,AC095067,CH236958,AK126096,DB341636 NP_001116537,EAL23804,BAC86438,Q6ZTY9 Hs.520816 FLJ44108 protein|hypothetical protein LOC401335 protein-coding 1606444 C7orf66 chromosome 7 open reading frame 66 12690205,9887257 154907 NM_001024607,AC004014,CH236947,AF103078,AF103195 NP_001019778,EAL24381,AAD16519,AAD30755,A4D0T2 Hs.276325,Hs.638689 Putative uncharacterized protein LOC154907|hypothetical protein LOC154907|uncharacterized protein LOC154907-like protein-coding 1607036 C7orf68 chromosome 7 open reading frame 68 10690527,18550099,15930302,15642117,15489334,12690205,12477932,9373149,8125298,20134266,20624928 29923 NM_001098786,NM_013332,AC010655,CH236947,CH471070,CS047958,AF144755,AK024729,AK222583,AL691669,BC001863,BC008573,BC093742,BC112183,CD686848,CR613444,CR617951,CR623904,CR624882,CR624903,CX784347 Q9Y5L2,NP_001092256,NP_037464,EAL24309,EAW83654,EAW83655,EAW83656,CAI70370,AAD37585,BAD96303,AAH01863,AAH93742,AAI12184,Q53HJ7 Hs.706124 FLJ21076|HIG-2|HIG2|MGC138388 hypoxia inducible gene 2|hypoxia-inducible gene 2 protein|hypoxia-inducible protein 2 protein-coding 1605032 C7orf69 chromosome 7 open reading frame 69 12853948,12477932 80099 NM_025031,AC019066,AC069282,CH236958,CH471128,AK024728,BC113679,BC113681,CA420605 NP_079307,AAS07564,EAL23806,EAW61008,BAB14977,AAI13680,AAI13682,Q9H7B7 Hs.287647 FLJ21075 hypothetical protein LOC80099 protein-coding 1606484 C7orf70 chromosome 7 open reading frame 70 15342556,14702039,12853948,12477932 84792 NM_001037163,AC009412,CH236963,CH878731,AF533707,AK093156,AK311878,BC006110,BC140712,BC142977,BP354450 NP_001032240,AAS07509,EAW55045,AAQ09020,BAC04076,BAG34819,AAH06110,AAI40713,AAI42978,Q7Z4H9,AAI40098 Hs.696146 MGC12966|SIPAR STAT3-interacting protein as a repressor protein-coding 3030166 C7orf71 chromosome 7 open reading frame 71 12107410,12477932,12690205,14702039 285941 AC003999,AK093321,BC112220,BC112222,BC143810,CA390440,CH236948,NM_001145531 EAL24232,NP_001139003 Hs.413394 hypothetical protein LOC285941 protein-coding 2902413 C7orf72 chromosome 7 open reading frame 72 12690205,12853948,20379614 100130988 AC020743,AC034148,CH236955,NM_001161834 A4D263,EAL23902,NP_001155306 Hs.99248 hypothetical protein LOC100130988 protein-coding 1318077 C8A complement component 8, alpha polypeptide C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq] 1600501,1580863 3052276,6771072,2820471,12413696,19048311,18842294,18440555,17872444,16935577,16761437,16710414,16618117,16335952,12477932,12463754,12220191,11297196,11041874,10551839,10387094,9759902,9647238,7759071,7649542,7544344,7440581,4063341,3624872,3171181,1551680,19423540,20237496,20379614,20406964,20438785,19913121,20628086 1600501 731 NM_000562,NG_012049,AL121998,CH471059,U08006,AK309596,BC020702,BC132911,BC132913,M16974 NP_000553,CAI19172,EAX06644,EAX06645,EAX06646,AAA82124,AAH20702,AAI32912,AAI32914,AAA52200,P07357,Q05CV2,ADR83082 Hs.93210 complement component 8 subunit alpha|complement component C8 alpha chain protein-coding 1352674 C8B complement component 8, beta polypeptide C8 beta is one of the three subunits that comprise the component 8 (C8) of the complement system. C8 participates in the formation of Membrane Attack Complex that results in the lysis of cells. Patients with C8B deficiency are prone to bacteria infection. [provided by RefSeq] 1600501,1580863 8131848,8098723,7440581,3651397,3624872,3171181,3052276,2820472,19344414,18842294,16710414,16618117,16335952,16199891,12477932,12413696,12220191,11041874,10551839,10387094,9476128,8345200,19162005,19423540,19864026,20237496,20406964,20438785 1600501 732 NM_000066,NG_007285,AL121998,CH471059,AK292740,AK298425,AK298444,AK313382,AK316209,BC020701,BC130575,CD364465,M16973,X04393 ADR83218,NP_000057,CAC18532,EAX06641,EAX06642,EAX06643,BAF85429,BAH12786,BAH12791,BAG36180,BAH14580,AAH20701,AAI30576,AAA51862,CAA27981,P07358,Q05CV3 Hs.391835 MGC163447 complement component 8 subunit beta|complement component C8 beta chain protein-coding 1319211 C8G complement component 8, gamma polypeptide C8G is one of the three polypeptides that constitute C8, a component of the complement system. C8 participates in the formation of Membrane Attack Complex (MAC). Patients with deficiency in C8 are vulnerable to certain bacteria infection. [provided by RefSeq] 1580863 8172891,3052276,19048311,18440555,17452033,16935577,16618117,16341674,15164053,12477932,12413696,12220191,12033936,11058761,11041874,10387094,9476128,8865989,3676249,2447883,2446620,1707134,19423540,20406964,20438785 733 NM_000606,AL807752,CH471090,U08198,AW663384,BC113624,BC113626,BM852158,BX282392,M17263,M17999,X06465 NP_000597,CAI12748,CAI12749,EAW88316,AAA18482,AAI13625,AAI13627,AAA51888,AAA51863,CAA29773,P07360,ADR83494 Hs.1285 C8C|MGC142186 complement component C8 gamma chain protein-coding 1353709 C8orf12 chromosome 8 open reading frame 12 12477932,11896452,20125193 83656 NR_026814,AF131216,AJ301563,BC080558,CH471157 CAC82739,Q96KT0,EAW65615 Hs.583896 miscrna 1346760 C8orf14 chromosome 8 open reading frame 14 11896452 83655 AJ291678 CAC82745,Q96KT6 C8orf14|VIR35 miscrna 1605484 C8orf15 chromosome 8 open reading frame 15 12477932 439940 NM_001033662,AF131215,CH471157,AJ312027,BC132953,BC132979 NP_001028834,EAW65602,CAC84874,AAI32954,AAI32980,Q8TCU8 Hs.661517 protein-coding 1352401 C8orf16 chromosome 8 open reading frame 16 83735 NM_001014439,AF131215,CH471157,AJ312026 NP_001014439,EAW65603,CAC84873,Q8TCU9 Hs.660259 miscrna 1354286 C8orf17 chromosome 8 open reading frame 17 56988 NM_020237,AF220264 1349468 C8orf22 chromosome 8 open reading frame 22 15489334,12477932 492307 NM_001007176,AC044893,CH471068,AJ276240,BC017981,BX500169 ACT64579,ACT64580,NP_001007177,EAW86701,EAW86702,EAW86703,CAC81690,AAH17981,Q8WWR9 Hs.49890 exocrine differentiation and proliferation factor-like protein|pancreatic progenitor cell differentiation and proliferation factor-like protein protein-coding 2300138 C8orf23 chromosome 8 open reading frame 23 552852 AA861243 Hs.521636 C8orf23 miscrna 2300137 C8orf24 chromosome 8 open reading frame 24 552853 T75509 Hs.575612 C8orf24 miscrna 2300136 C8orf25 chromosome 8 open reading frame 25 552859 BX110670 Hs.156997 C8orf25 miscrna 2300135 C8orf26 chromosome 8 open reading frame 26 10737800 552860 BE069098 Hs.571527 C8orf26 miscrna 2300134 C8orf28 chromosome 8 open reading frame 28 552862 BI767459 Hs.674222 chromosome 8 open reading frame 28 protein-coding 2300133 C8orf29 chromosome 8 open reading frame 29 552863 BQ426089 Hs.583797 chromosome 8 open reading frame 29 protein-coding 1602718 C8orf30A chromosome 8 open reading frame 30A 16169070,15489334,14702039,12477932,11042152,20562859 51236 NM_016458,CH471162,AF151022,AK098226,BC003035,BC009915,BC015471,AC104592 NP_057542,EAW82148,AAF36108,BAG53598,AAH03035,AAH09915,AAH15471,Q96BK8,Q9BTY7,Q9P0T5 Hs.300224 BRP16|FLJ40907 brain protein 16 protein-coding 2291788 C8orf30B chromosome 8 open reading frame 30B 16421571 728071 XM_001126758,AC110280 XP_001126758,P0CB43 BRP16L brain protein 16-like|chromosome 8 open reading frame 30B protein-coding 1606663 C8orf31 chromosome 8 open reading frame 31 14702039,12477932 286122 AC083982,NM_173687,CH471162,AK094450,BC063497,BC073830,BC120993 NP_775958,EAW82281,EAW82282,EAW82283,BAC04358,AAH73830,Q8N9H6 Hs.660382 FLJ37131|MGC90155 hypothetical protein LOC286122 protein-coding 1606509 C8orf33 chromosome 8 open reading frame 33 16169070,16344560,12477932 65265 NM_023080,AC139103,CH471162,AF086170,AK024642,BC010001,BC015181,BX648996,CR457330,CR598287,DA467518 NP_075568,EAW82022,EAW82023,BAB14943,AAH10001,AAH15181,CAG33611,Q9H7E9 Hs.169615 FLJ20989 hypothetical protein LOC65265 protein-coding 1605303 C8orf34 chromosome 8 open reading frame 34 14702039,12477932,8889548 116328 NM_052958,AC011884,AC067871,AC083967,AC090096,CH471068,AB056652,AK094191,AK291436,AL834454,BC041961,BC143425,AK094650,BM684412,NM_001195639 NP_443190,EAW86945,EAW86946,EAW86947,EAW86948,EAW86949,BAB64433,BAC04304,BAF84125,CAD39114,AAH41961,Q49A92,BAC04395,NP_001182568 Hs.491941 DKFZp547E186|FLJ36872|FLJ37331|VEST-1|VEST1|vest-1 A830018L16Rik|hypothetical protein LOC116328|vestibule 1|vestibule-1 protein protein-coding 1606135 C8orf37 chromosome 8 open reading frame 37 16344560,14702039,12477932,20379614 157657 AA897574,DA473498,DB205618,NM_177965,AC024995,AP003466,CH471060,AK055162,BC036855,BC150301 NP_808880,EAW91744,EAW91745,BAB70866,Q96NL8,AAI72331 Hs.548157 FLJ30600 hypothetical protein LOC157657 protein-coding 1603903 C8orf38 chromosome 8 open reading frame 38 137682,18614015,20877624,15342556,12477932 137682 NG_016647,AC068189,CH471060,AA625387,AK298631,AK301414,AY444560,BC028166,BP275471,BQ447469,CR594623,CR619997,CR621219,NM_152416 ABM82567,NP_689629,EAW91733,EAW91734,EAW91735,EAW91736,EAW91737,EAW91738,BAG60807,BAG62945,AAS68536,AAH28166,Q330K2,ABM85756 Hs.435500 MGC40214 C8orf38 protein|OTTHUMP00000196526|OTTHUMP00000196528|phytoene synthase-like|putative phytoene synthase protein-coding 1602216 C8orf39 chromosome 8 open reading frame 39 55472 NR_027259,AC010834,AF116672 AAF71092,Q9P1G2 Hs.192788 PRO1905 miscrna 1346279 C8orf4 chromosome 8 open reading frame 4 This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. [provided by RefSeq] 17178857,16740781,16424001,15489334,15185345,15087392,12477932,11056052,8889548,17207965,17520678,18959821,17905836,17603013 56892 NM_020130,AC022733,AF268038,CH471080,AF268037,AI861861,AK026240,BC020623,BC021672,BM976768,CR594872,CR600720,CR602517,CR607025,CR616793,CR618129,CR619771,CR620271,CR622918 ADQ33213,NP_064515,EAW63268,AAF78961,AAH20623,AAH21672,Q9NR00,ACE87727,ACE87044 Hs.591849 MGC22806|TC-1|TC1|hTC-1 human thyroid cancer 1|thyroid cancer-1 protein-coding 1602660 C8orf40 chromosome 8 open reading frame 40 17207965,18029348,16344560,15489334,12477932 114926 BI549696,CR616059,CR619782,DA702519,DB519016,NM_001135676,NM_138436,NM_001135674,NM_001135675,AC090739,CH471080,AK311932,BC013035,BI335341,BI463786 ADQ33159,Q96E16,NP_001129148,NP_612445,NP_001129146,NP_001129147,EAW63209,EAW63210,EAW63211,EAW63212,BAG34873,AAH13035 Hs.655320 hypothetical protein LOC114926 protein-coding 1604785 C8orf41 chromosome 8 open reading frame 41 16344560,15489334,14702039,12477932,20810650,17643375 80185 DB113350,NM_025115,AC091144,CH471080,CS300619,AI890434,AK026916,AK308918,AL530920,BC007387,BC066935,BX648410,CR598770,CR609158,CR613354,DA617987,DB047280,DB112682,NM_001102401 Q6NXR4,NP_001095871,NP_079391,EAW63397,EAW63398,EAW63399,CAK32283,BAB15590,AAH07387,AAH66935 Hs.77135,Hs.583805 FLJ23263 hypothetical protein LOC80185 protein-coding 1602978 C8orf42 chromosome 8 open reading frame 42 12477932,20170638,20379614 157695 NM_175075,AC083964,AC090135,AC090691,CH471181,AY194292,BC033779,BC136248,BC136249,BX648606,DR003272 NP_778250,EAW51462,AAO23974,AAI36249,AAI36250,Q86YL5 Hs.289293 DKFZp686J15216|INM01|TDRP testis development-related protein protein-coding 1606262 C8orf44 chromosome 8 open reading frame 44 15489334,14702039,12477932 56260 NM_019607,AC090154,CH471068,AK002129,BC014448 NP_062553,EAW86917,EAW86918,BAA92096,AAH14448,Q96CB5 Hs.661238 FLJ11267 putative uncharacterized protein C8orf44 protein-coding 1605856 C8orf45 chromosome 8 open reading frame 45 15489334,12477932 157777 NM_173518,NM_001136161,NM_001136160,AC011031,CH471068,AA928149,AK098558,AK302169,AK302672,AK303003,AK304170,AL833526,BC034576,BC063108,BG722401,BX537587 NP_775789,NP_001129633,NP_001129632,EAW86921,EAW86922,EAW86923,BAC05333,BAG63536,BAG63905,BAG64136,BAG65055,AAH34576,AAH63108,CAD97790,Q4G0Z9,Q8N7F5 Hs.437006 FLJ25692 minichromosome maintenance complex component-like protein-coding 1601708 C8orf46 chromosome 8 open reading frame 46 15489334,14702039,12477932 254778 NM_152765,AC009879,CH471068,AK055047,AK096336,AK294261,AK308800,AK315486,BC028400,DC344091,H17010 NP_689978,EAW86908,EAW86909,EAW86910,BAG57555,BAG37870,AAH28400,Q8TAG6,ACT64493,ACT64494 Hs.268869 MGC33510 hypothetical protein LOC254778 protein-coding 1606129 C8orf47 chromosome 8 open reading frame 47 14702039,12477932,20208534 203111 NM_173549,AP003352,AP003439,CH471060,AK096872,BC062359,CR621279,AI697720,NM_001170806 NP_775820,EAW91772,EAW91773,BAC04880,AAH62359,Q6P6B1,NP_001164277 Hs.171455 FLJ39553 hypothetical protein LOC203111 protein-coding 2304146 C8orf48 chromosome 8 open reading frame 48 16189514,12477932,8889548,19060904 157773 NM_001007090,AC022832,CH471080,AF394908,AK058131,AK058156,BC031245,CB306127 NP_001007091,EAW63850,AAQ02889,BAB71677,BAB71692,AAH31245,Q96LL4 Hs.104941 FLJ25402 hypothetical protein LOC157773 protein-coding 1604869 C8orf49 chromosome 8 open reading frame 49 14702039 606553 Q96NF6 NM_001031839,AC069185,CH471157,AK055534,BC132945 NP_001027009,EAW65622,BAB70943,AAI32946,Q96NF6 Hs.545529 FLJ30972 protein-coding 1349776 C8orf5 chromosome 8 open reading frame 5 203080 NM_182754,AJ305312 1601799 C8orf50 chromosome 8 open reading frame 50 12477932 340414 BC043205,BC118569 Hs.667366 miscrna 2303431 C8orf51 chromosome 8 open reading frame 51 16344560,15489334,12477932,8889548 78998 NR_026785,AC087793,CH471162,AK026503,BC000203,BI829214,BM685262,BM968345,DA327076 EAW82257,Q9BWJ2 Hs.618477,Hs.245886 MGC3113 miscrna 1605483 C8orf54 chromosome 8 open reading frame 54 14702039,12477932 439941 NM_001038706,AC090753,AC100871,CH471060,AK093040,BC137357 NP_001033795,EAW92055,BAC04029,Q8NA97,AAI37358 FLJ35721 miscrna 1602485 C8orf55 chromosome 8 open reading frame 55 16341674,16303743,14702039,12477932 51337 AF242773,AK055140,AK075407,AK315614,BC001311,BC019104,BM744164,CR598424,CR626619,NM_016647,AC083841,AC108002,CH471162 AAF65450,BAC11600,BAG37983,AAH01311,AAH19104,Q8WUY1,NP_057731,EAW82309 Hs.368402 DSCD75 mesenchymal stem cell protein DSCD75 protein-coding 1603174 C8orf56 chromosome 8 open reading frame 56 12477932 157556 NR_027071,BC029562,BC071743,AP003550 P0C853 Hs.459124 MGC39526 miscrna 1601950 C8orf57 chromosome 8 open reading frame 57 11230166 84257 Q9BQG3 AL136588 CAB66523,Q9BQG3 Hs.492187 DKFZp761D112 protein-coding 1604880 C8orf58 chromosome 8 open reading frame 58 14702039,12477932,17207965 541565 NM_001013842,AC037459,AK092034,AK295405,BC012750,BI910955,CR595864,CR608004,AI380311,DC328974,NM_001198827,NM_173686 NP_001013864,BAC03795,BAG58356,AAH12750,Q7Z758,Q8NAV2,NP_001185756,NP_775957,ADQ32183 Hs.724712 FLJ34715 OTTHUMP00000205210|OTTHUMP00000205211|hypothetical protein LOC541565 protein-coding 1604140 C8orf59 chromosome 8 open reading frame 59 16344560,16341674,15146197,12477932,11597177 401466 NM_001099673,NM_001099670,NM_001099671,NM_001099672,AC011773,CH471068,BC032347,BC055092,BC062221,BC146983,BC146988,BC157825,BC171873,BG926519,BM785759,CN280666,DB094478 NP_001093143,NP_001093140,NP_001093141,NP_001093142,EAW87124,EAW87125,EAW87126,EAW87127,AAH32347,AAI46984,AAI46989,AAI57826,Q8N0T1 Hs.443072 hypothetical protein LOC401466 protein-coding 1353747 C8orf6 chromosome 8 open reading frame 6 203081 NM_145656 1602379 C8orf61 chromosome 8 open reading frame 61 14702039 619435 Q8N8I7 NM_001034061,AC100810,AK096736 NP_001029233,BAC04854,Q8N8I7 Hs.591392 FLJ39417 protein-coding 2303687 C8orf62 chromosome 8 open reading frame 62 137133 NG_009632,AC113145 C8orf62 pseudo 2300141 C8orf63 chromosome 8 open reading frame 63 619339 BQ919341 chromosome 8 open reading frame 63 protein-coding 1602381 C8orf66 chromosome 8 open reading frame 66 619427 AL834492 Hs.638555 DKFZp434O0331 protein-coding 2300142 C8orf67 chromosome 8 open reading frame 67 10737800 619338 BF742662 Hs.678836 chromosome 8 open reading frame 67 protein-coding 1605450 C8orf68 chromosome 8 open reading frame 68 12477932 619343 XM_001721201,XM_001719813,AC026950,AC100797,AC110288,AC120035,AC129915,AF067845,BC022082,BC038783,XM_927505 XP_932598,XP_001721253,XP_001719865,P0C838 Hs.667939,Hs.722154 chromosome 8 open reading frame 68 protein-coding 2300140 C8orf69 chromosome 8 open reading frame 69 619344 AA469917 chromosome 8 open reading frame 69 protein-coding 1606806 C8orf71 chromosome 8 open reading frame 71 12477932,11230166 26138 NR_026772,AC025674,AL080200,BC125038,CH471068 Q9Y4M8,CAB45772,EAW86797 Hs.159352 DKFZp434F122 miscrna 1603139 C8orf73 chromosome 8 open reading frame 73 16344560,12477932,9776767 642475 AC067930,AF086255,AF289596,AK292180,AL040647,BC029031,BM148864,BX341537,CD579780,CR606189,DB003146,DN831781,NM_001100878 AAL55780,BAF84869,A6NGR9,Q8WYZ6,NP_001094348 Hs.531406 putative uncharacterized protein C8orf73 protein-coding 1606427 C8orf74 chromosome 8 open reading frame 74 15489334,12477932 203076 HC006850,NM_001040032,AC105001,CH471157,AK131443,BC038534,BC065837,BC132852,BC132854 CBH19230,ADR82897,NP_001035121,EAW65593,AAH65837,AAI32853,AAI32855,Q6P047 Hs.371776 hypothetical protein LOC203076 protein-coding 1602606 C8orf75 chromosome 8 open reading frame 75 12477932 619351 NR_026765,BC003524,BC014230,AC069181,AC137741 AAH03524,Q9BTQ3 Hs.566911 miscrna 1602854 C8orf76 chromosome 8 open reading frame 76 15489334,14702039,12477932,9373149,8125298,20379614 84933 NM_032847,AC068228,CH471060,AK027731,AK222660,BC012379,BC067796,CR593173,CR594463,CR604160 NP_116236,EAW92026,BAB55327,BAD96380,AAH12379,AAH67796,Q96EF9,Q96K31,ACT64409,ACT64410 Hs.521800 FLJ14825|MGC9784 hypothetical protein LOC84933 protein-coding 2303889 C8orf77 chromosome 8 open reading frame 77 14702039,12477932 286103 AF235103,AK092777,BC046439,BC122544,BX104600,NR_026974 BAC03974,Q0IIN9 Hs.359978 MGC141859 miscrna 1602875 C8orf79 chromosome 8 open reading frame 79 16344560,15489334,14702039,12477932,10819331,17207965,17903295 57604 NM_020844,NM_001099677,AC135352,AB040889,AK094299,AK125638,AK296010,AW295329,BC016633,BC035082,CR613040,DA390356,DC334299,DR001645 NP_065895,NP_001093147,BAA95980,BAC04326,BAG58781,AAH16633,Q9P272,ADQ32767 Hs.202521 FLJ36980|KIAA1456|MGC43113 hypothetical protein LOC57604 protein-coding 1345698 C8orf8 chromosome 8 open reading frame 8 11896452 83647 AJ301561 CAC82737,Q96KT2 Hs.404138 protein-coding 1626574 C8orf80 chromosome 8 open reading frame 80 19734146,20379614,15592455,15221005,8889548,20877300,18029348 389643 NM_001010906,AC019031,AC091573,AA482187,AA768146,AB075870,AK129923,BU429067,CF137482 NP_001010906,BAD38652,BAC85251,Q68CJ6,AAI60159 Hs.370129 FLJ26413|HMFN0672|SLIP-GC GTPase SLIP-GC|speckled-like pattern in the germinal center protein-coding 1606363 C8orf82 chromosome 8 open reading frame 82 12477932 414919 NM_001001795,AC084125,CH471162,BC064373,BC064829,BC073936,CR614853,CR617155,CR620177 NP_001001795,EAW82063,EAW82064,AAH64373,AAH64829,AAH73936,Q6P1X6 Hs.105685 MGC70857 hypothetical protein LOC414919 protein-coding 2299991 C8orf83 chromosome 8 open reading frame 83 14702039,12477932,16344560,18828657 286144 AC027242,AC117834,CH471060,AF130048,AK096398,AK097956,BC031029,BC065838,BC104254,BC104255,BC110326,BC113007,BC113008,CR598592,CR602063,CR603897,CR606814,CR749421,DQ351291,CB989812,DA115453,NM_001191035,NM_001191036,BQ009934,BX474727,DA093687,DA191587,NM_001171795,NM_001171796,NM_001171797,NM_001171798,NM_001171799 EAW91691,AAG35476,CAH56121,ABC84190,Q629K1,Q9H3C3,NP_001177964,NP_001177965,EAW91692,NP_001165266,NP_001165267,NP_001165268,NP_001165269,NP_001165270 Hs.440643 DKFZp779L1068|FLJ40637|PRO0845|TRIQK|UPF0599|triqk PRO0845|hypothetical protein LOC286144|protein TRIQK|triple repetitive-sequence of QXXK/R|triple repetitive-sequence of QXXK/R protein homolog protein-coding 1602645 C8orf84 chromosome 8 open reading frame 84 14702039,12107410,12477932 157869 NM_153225,AC022893,AC100823,CH471068,AF087977,AI698180,AK292970,AL080094,AY040546,BC042877,CR592835,CR594707,CR616775 NP_694957,EAW86996,BAF85659,AAK83466,AAH42877,Q8IVN8 Hs.439040 FLJ40021|RPESP RPE spondin|RPE-spondin protein-coding 2311262 C8orf85 chromosome 8 open reading frame 85 12477932,20549515 441376 NM_001025357,AC087350,AB181519,BC140924,BC142621 NP_001020528,BAE03184,AAI40925,AAI42622,Q4LEZ3 Hs.437551 AARD alanine and arginine-rich domain-containing protein protein-coding 1602035 C8orf86 chromosome 8 open reading frame 86 12477932 389649 NM_207412,AC069120,AC087623,AK125570,BC137511,BC137512,BC139744 NP_997295,BAC86207,AAI37512,AAI37513,AAI39745,Q6ZUL3 Hs.546586 FLJ43582 hypothetical protein LOC389649 protein-coding 1320687 C9 complement component 9 This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq] 1580863 20383146,2426252,19344414,18842294,17644516,17482181,16844690,16618117,16335952,16263699,15489334,14760718,12596049,12477932,12463754,11881818,11359403,11027207,10551839,9703418,9634479,9570574,9144525,8603752,8471847,8345200,7523406,6095282,4063341,4018030,3624872,3219351,2744767,2395434,1672663,1377690,8630395,19162005,19423540,19739077,19864026,20139276,20153530,20237496,20406964,20438785,16712791,19913121,20628086 735 NM_001737,NG_009894,AC008846,AC025471,AJ251818,CH471119,J02833,Y08545,AK308045,BC020721,CB135741,CB157001,K02766,X02176 NP_001728,CAB66087,EAW55986,EAW55987,EAW55988,AAA51890,CAA69849,AAH20721,AAA51889,CAA26117,P02748,Q9UGI4,ABM82336 Hs.654443 complement component C9 protein-coding 1321248 C9orf100 chromosome 9 open reading frame 100 737633 16344560,14702039,12477932,9373149,16189514 737633 84904 NM_032818,AL357874,CH471071,AK001187,AK027548,AK225501,AK225529,AK303513,AY390225,AY390226,BC033666,BC038673,CR616792,DB109516 NP_116207,CAI13452,EAW58360,EAW58361,EAW58362,EAW58363,BAB55192,BAG64543,AAR01010,AAR01011,AAH33666,Q8N4T4 Hs.727748 FLJ14642|MGC44886|RP11-331F9.7 vav-like protein C9orf100 protein-coding 1343550 C9orf101 chromosome 9 open reading frame 101 445578 1606875 C9orf102 chromosome 9 open reading frame 102 16344560,14702039,12477932,11181995,17207965 375748 AL389953,BC022957,BC035183,BC075860,BC140702,BC144261,BG108141,BQ013632,CA425791,CF529128,CR590830,DB153432,AL159167,AL161454,CH471174,AK095025,AK307504,AK308131,AK308409,AL133663,AL389952,NM_001010895 CAB97530,CAB97543,AAH22957,AAH35183,AAI40703,A4D997,Q5T890,Q9NPP9,ADQ32469,NP_001010895,CAI40281,CAI16514,CAI16517,EAW92635,EAW92636,EAW92637,EAW92639,EAW92640,EAW92641,BAC04478 Hs.432364 FLJ37706|MGC30192|MGC43364|RAD26L|SR278 RAD26L hypothetical protein|RAD26L hypothetical protein; stretch responsive protein 278|putative repair and recombination helicase RAD26L|stretch responsive protein 278 protein-coding 1347065 C9orf103 chromosome 9 open reading frame 103 12477932,18029348 414328 NM_001001551,AL354920,CH471089,AF086281,AY615889,BC036421,BC045782,BC142991,CA866332,DB496275,NM_001190727 NP_001001551,CAI15097,CAI15098,CAI15099,EAW62654,EAW62655,EAW62656,EAW62657,AAT27441,AAI42992,Q5T6J7,AAI40078,AAI40079,NP_001177656 Hs.530261 bA522I20.2 glucokinase-like protein|gluconate kinase|gluconokinase-like protein|probable gluconokinase protein-coding 1343126 C9orf104 chromosome 9 open reading frame 104 414316 AL591890 CAI15484,Q5SY13 bA54A22.4 chromosome 9 open reading frame 104 protein-coding 1349578 C9orf106 chromosome 9 open reading frame 106 14702039,12477932 414318 NM_001012715,AL161785,CH471090,AK092588,BC132699,BC132701 NP_001012733,EAW87887,BAC03921,AAI32700,AAI32702,Q8NAJ2 Hs.449434 bA65J3.5 putative uncharacterized protein C9orf106 protein-coding 1351537 C9orf107 chromosome 9 open reading frame 107 12477932,11181995 414319 BC038565,AL354701,CH471105 B1AMM8,CAI16714,EAW58965 Hs.385790 bA785H23.1 miscrna 1344676 C9orf109 chromosome 9 open reading frame 109 12477932 286333 NR_024366,AL449105,AK125961,AK127516,AK292424,AL832752,AW590029,BC130412,BC130414,BX647840,CR627046 BAF85113 Hs.99052,Hs.449459 C9orf109|DKFZp686A0127|FLJ76363 miscrna 1342522 C9orf11 chromosome 9 open reading frame 11 16831425,12477932,11118625,20801718,20379614 54586 BC137352,BC144602,BX089774,NM_020641,NM_001161585,AL133411,CH471071,CS072268,AJ278482,BC014307,BC137351 AAI37353,AAI44603,Q9NQ60,AAI37352,NP_065692,NP_001155057,CAD13444,CAI16056,EAW58566,EAW58567,EAW58568,CAI93406,CAC00687,AAH14307 Hs.163070 AFAF acrosome formation associated factor|acrosome formation-associated factor protein-coding 1603808 C9orf110 chromosome 9 open reading frame 110 15489334,14702039,12477932 100128385 AL045730,AL832752,BC130412,BC130414,BX647840,CR627046,NR_024376,AL449105,AK125961,AK127516,AK292424 BAF85113 Hs.99052,Hs.449459 C9orf110 miscrna 1343592 C9orf114 chromosome 9 open reading frame 114 737633 17207965,15489334,15164053,12477932,11790298,11042152 737633 51490 NM_016390,AL441992,CH471090,AF161459,AK303563,AL110193,BC010579,BC021273,BC033677,BC039590,BC046133,BC056890,BC063644,CR599269,CR600459,CR606465,CR612717,CR616507,CR623306 ADQ32533,NP_057474,CAI15413,EAW87838,EAW87839,AAF29074,BAG64586,AAH10579,AAH21273,AAH33677,AAH39590,AAH46133,AAH63644,Q5T280,Q9P041 Hs.727593 DKFZp566D143|HSPC109|MGC29492|RP11-545E17.7 hypothetical protein LOC51490 protein-coding 1353369 C9orf116 chromosome 9 open reading frame 116 737633 15489334,15164053,14702039,12477932 737633 138162 NM_001048265,NM_144654,AL161452,CH471090,AI367252,AI873313,AK024007,AY927868,BC021261,DR003074 NP_001041730,NP_653255,CAI14048,CAI14049,CAI14050,EAW88154,EAW88155,AAX22217,AAH21261,Q5BN46,ABM83710,ABM87030 Hs.414028 FLJ13945|MGC29761|RP11-426A6.4 OTTHUMP00000022533|hypothetical protein LOC138162|pierce 1 protein-coding 1343575 C9orf117 chromosome 9 open reading frame 117 14702039,12477932 286207 NM_001012502,AL162426,CH471090,AK094948,AK126437,AL833241,BC125172,BC133027,BC141809 NP_001012520,CAI41183,EAW87682,EAW87683,EAW87684,AAI33028,AAI41810,Q5JU67 Hs.652519 RP11-56D16.5 hypothetical protein LOC286207 protein-coding 1348246 C9orf118 chromosome 9 open reading frame 118 15164053 414312 AL161728 CAH72691,A6NHY6 bA342C23.1 Putative uncharacterized protein C9orf118|chromosome 9 open reading frame 118 protein-coding 1350090 C9orf119 chromosome 9 open reading frame 119 737633 12477932 737633 375757 NM_001040011,AL590708,AK311408,BC029911,DQ414820 NP_001035100,CAI13840,CAI13843,CAI13844,AAH29911,ABD72916,Q1ZZU3 Hs.259594 bA395P17.9 HBV DNAPTP1-transactivated protein A|OTTHUMP00000022229|OTTHUMP00000215541|hypothetical protein LOC375757 protein-coding 1349151 C9orf120 chromosome 9 open reading frame 120 414322 1346449 C9orf122 chromosome 9 open reading frame 122 737633 15164053,12477932 737633 158228 NR_027294,AL591543,BC036230,BC041970,BC067887 CAI17286,Q5SY85 Hs.632652 C9orf122 miscrna 1319327 C9orf123 chromosome 9 open reading frame 123 737633 19240061,15489334,15164053,12477932 737633 90871 NM_033428,AL354694,CH471071,AK292632,AL137489,BC009510,BI550091 NP_219500,CAI16700,EAW58728,BAF85321,CAB70768,AAH09510,Q96GE9 Hs.7517 MGC4730 transmembrane protein C9orf123 protein-coding 1316281 C9orf125 chromosome 9 open reading frame 125 737633 15489334,15164053,12477932 737633 84302 NM_032342,AL353621,CH471105,AK313981,BC006115,BC033550,BC113967,CR605218,CR613609 NP_115718,CAI14616,EAW58953,EAW58954,AAH06115,AAH33550,AAI13968,Q24K26,Q9BRR3 Hs.655738 MGC12992 OTTHUMP00000021806|OTTHUMP00000021807|transmembrane protein C9orf125 protein-coding 1321320 C9orf128 chromosome 9 open reading frame 128 12477932,11207361 392307 NM_001012446,AF334830,AL133410,CH471071,BC144503,BC146808,BX648702 NP_001012448,CAI10992,EAW58329,EAW58330,AAI46809,A6H8Z2 Hs.128075 hypothetical protein LOC392307 protein-coding 1350389 C9orf129 chromosome 9 open reading frame 129 20379614 445577 NM_001098808,AL583839 NP_001092278,CAI12343,Q5T035 Hs.575636 bA165J3.3 putative uncharacterized protein C9orf129 protein-coding 1353553 C9orf130 chromosome 9 open reading frame 130 15164053,14702039,8889548 100128782 NR_023389,NR_023390,AL161454,CH471174,AF170307,AF194971,AK092137,AK092145,AL389954,BU687794,AL354861 EAW92634,AAL35407,AAL35408,Q8WZ93,Q8WZB0 Hs.494549 FLJ34818|FLJ34826|NAG11|NAG12 miscrna 1604527 C9orf131 chromosome 9 open reading frame 131 16344560,14702039,12477932 138724 NM_001040411,NM_203299,NM_001040410,AL353795,AK090398,AK097595,AK302123,AL133575,BC045643,DB072610,DB091135,DB093341,NM_001040412,DB096349 NP_001035502,NP_001035501,NP_976044,NP_001035500,CAH70992,BAC03379,BAG63501,CAB63722,AAH45643,Q5VYM1,Q8NF81 Hs.148250,Hs.727841 FLJ00273|MGC41945 hypothetical protein LOC138724 protein-coding 1625806 C9orf133 chromosome 9 open reading frame 133 548324 AL353671 CAH71256,Q8N7I0 chromosome 9 open reading frame 133 protein-coding 1351856 C9orf134 chromosome 9 open reading frame 134 15164053,19658160 100129669 XM_001718121,XM_001716559,XM_001716929,AL162232 XP_001718173,XP_001716611,XP_001716981,CAH71315,Q5VZ72 C9orf134|bA20A20.1 IZUMO family member 3|chromosome 9 open reading frame 134 protein-coding 1605872 C9orf135 chromosome 9 open reading frame 135 20379614,16335952,15164053,12477932,20818722 138255 NM_001010940,AL162412,AL591215,AL603625,CH471089,AA416734,BC136709,BC144373,BC144374,BC144375,BC150564,CD684431 CAH71316,NP_001010940,CAI10946,EAW62492,AAI36710,AAI50565,Q5VTT2 Hs.444459 OTTHUMP00000021439|hypothetical protein LOC138255 protein-coding 1603806 C9orf139 chromosome 9 open reading frame 139 14702039,12477932 401563 NM_207511,AL807752,CH471090,AK093587,AK124899,BC132809,BC136839 NP_997394,CAI12773,EAW88334,BAC04202,BAC85986,AAI32810,AAI36840,Q6ZV77,ADR83488 Hs.522509 FLJ36268|FLJ42909 hypothetical protein LOC401563 protein-coding 1345696 C9orf140 chromosome 9 open reading frame 140 737633 17525738,12477932 737633 89958 NM_178448,AL807752,CH471090,BC009435,BC018901,BC024299,BC042162,BC048267,BX332104,DQ150361 NP_848543,EAW88338,EAW88339,AAH09435,AAH48267,AAZ39408,Q86UD0,Q96GJ3,CAI12778 Hs.19322 p42.3 2010317E24Rik|TS/MDEP|protein C9orf140|tumor specificity and mitosis phase-dependent expression protein protein-coding 1641964 C9orf141 chromosome 9 open reading frame 141 203235 AL807752,NM_001101674,XM_117514 NP_001095144,CAI12755,XP_117514,Q5SQ13 protein-coding 1606404 C9orf142 chromosome 9 open reading frame 142 12477932,17207965 286257 NM_183241,AL807752,CH471090,BC002613,BC038191,CR604207,CR625766 NP_899064,CAI12761,EAW88324,EAW88325,EAW88326,EAW88327,EAW88328,AAH02613,AAH38191,Q9BUH6,ADQ32091 Hs.409582 hypothetical protein LOC286257 protein-coding 2302157 C9orf144 chromosome 9 open reading frame 144 389715 NR_024481,AL162231,AL589645,AK128180,AL080137,BX648118 BAC87313,CAH56187 Hs.713965,Hs.725618 DKFZp434J193 pseudo 1626519 C9orf147 chromosome 9 open reading frame 147 100113405 AK131020 Hs.662552 bA32M23.3 protein-coding 1344533 C9orf148 chromosome 9 open reading frame 148 12477932 401550 BC039180 Hs.644347 protein-coding 1317610 C9orf150 chromosome 9 open reading frame 150 12477932,15489334,15221005,15164053,14702039,12766061 286343 NM_203403,AL138753,AL157828,AB073606,AK074752,AK095824,BC036923,BE464662,BM739457,BX508229,CD678148,CR607491 NP_981948,CAH73439,CAH71386,BAD38643,BAC04633,AAH36923,Q8IV03,ADR82650 Hs.445356 FLJ38505|FLJ90271|HYST0841|MGC46502|bA3L8.2 hypothetical protein LOC286343 protein-coding 1318524 C9orf151 chromosome 9 open reading frame 151 401560 AA916420,BI827090 Hs.528581 bA413M3.2 protein-coding 1342470 C9orf152 chromosome 9 open reading frame 152 15851553,15489334,15164053,12477932 401546 NM_001012993,AL353598,CH471105,AK290278,BC110807,BX648492,BX648620,CD722791 NP_001013011,CAI40817,EAW59058,BAF82967,AAI10808,Q5JTZ5,ABZ92215,ACE87629,ACE86941 Hs.125608 MGC131682|bA470J20.2 hypothetical protein LOC401546 protein-coding 1604152 C9orf153 chromosome 9 open reading frame 153 12477932,15489334,15164053 389766 HC006858,NM_001010907,AL137849,CH471089,BC108665 CBH19234,NP_001010907,CAI14922,CAI14923,EAW62710,EAW62711,AAI08666,Q5TBE3 Hs.632073 MGC131702|bA507D14.1 OTTHUMP00000021589|hypothetical protein LOC389766 protein-coding 1352712 C9orf155 chromosome 9 open reading frame 155 497260 NM_001099268,AL161447 CAH73151,NP_001092738 FLJ23608|bA379P1.3 protein-coding 1313441 C9orf156 chromosome 9 open reading frame 156 20583170,14702039,12477932,11042152,9153233,19779022 51531 AL499604,NM_016481,CH471105,AF151053,AK000213,AK023069,AK302701,AK309270,AY189280,BC002863,CR604210,CR605882,CR620447,X86033 CAI12804,CAI12805,CAI12806,CAI12807,NP_057565,EAW58858,EAW58859,EAW58860,AAF36139,BAA91013,BAH13783,AAO86724,AAH02863,CAA60025,Q5T112,Q5T114,Q6Y2L2,Q9BU70,ABM83909,ABM87230 Hs.9196 HSPC219|NAP1|RP11-23B15.3 Nef (lentivirus myristoylated factor) associated protein 1|Nef associated protein 1|nef-associated protein 1|thioesterase NAP1 protein-coding 1342591 C9orf16 chromosome 9 open reading frame 16 16964243,16189514,15489334,15146197,14702039,12477932,10369878 79095 NM_024112,AL590708,CH471090,Y17449,Y17450,AK022885,AK315753,BC001857,BC008887,CN360246,CR601282,DB493059 NP_077017,CAI13825,EAW87751,CAB44366,CAB44344,BAG38107,AAH01857,AAH08887,Q9BUW7,Q9Y3F6 Hs.522412 EST00098|FLJ12823|MGC4639 hypothetical protein LOC79095 protein-coding 1602292 C9orf163 chromosome 9 open reading frame 163 17353931,14702039,12477932 158055 CH471090,AK055336,AK094098,BC036221,BC117152,BC117154,NM_152571,AL592301 CAM19028,EAW88240,BAB70904,BAC04285,AAI17153,AAI17155,Q8N9P6,NP_689784,ADR82842 Hs.212613 FLJ36779|RP11-413M3.11 hypothetical protein LOC158055 protein-coding 1602164 C9orf164 chromosome 9 open reading frame 164 14702039,15164053 349236 NM_182635,AL929575,AJ420442,AK090804,AK091601,AK097056,AK128342,BC137515,BC137518 NP_872441,CAI95794,BAC04938,AAI37516,AAI37519,Q8N8B0 Hs.714762 FLJ39737 protein-coding 1606545 C9orf167 chromosome 9 open reading frame 167 14702039 54863 NM_017723,BX255925,AK000252,AK000392,AK023361 NP_060193,CAM24150,BAA91032,Q9NXH8,AAI69268,AAI69269,AAI69270,AAI69271 Hs.495541 FLJ20245|RP13-122B23.4 torsin family protein C9orf167 protein-coding 1603334 C9orf169 chromosome 9 open reading frame 169 12477932 375791 BE563091,NM_199001,BX255925,BX322591,BC018787,BC052297 CAX15141,NP_945352,AAH52297,A8MQ03 Hs.495540,Hs.512469 MGC59937 hypothetical protein LOC375791 protein-coding 1603810 C9orf170 chromosome 9 open reading frame 170 15489334,14702039,12477932 401535 NM_001001709,AL158205,AK127445,BC132741,BC136791 NP_001001709,AAI32742,AAI36792,A2RU37,ADR82813 Hs.657740 FLJ45537 hypothetical protein LOC401535 protein-coding 1604151 C9orf171 chromosome 9 open reading frame 171 19913121,20628086,20379614,12477932 389799 NM_207417,AL353701,AL354735,CH471090,AK128819,BC118593,BC124555 NP_997300,CAM14152,CAM14153,CAM23216,EAW88003,EAW88004,BAC87621,AAI18594,AAI24556,Q6ZQR2 Hs.201709 FLJ46082|MGC148067|RP11-738I14.8 hypothetical protein LOC389799 protein-coding 3302853 C9orf172 chromosome 9 open reading frame 172 389813 AL355987,NM_001080482 C9J069,NP_001073951 Hs.495485 chromosome 9 open reading frame 172 protein-coding 4110705 C9orf174 chromosome 9 open reading frame 174 10819331,11181995,12477932,14702039,15164053,15489334,16344560,17924679,17974005,18978678 100499483 AK123391,AK302965,AL137557,AL512590,BC047097,CH471105,CR627453,CR749320,DB050504,NM_020893 AAH47097,BAG64113,CAH10534,CAH10701,CAH18175,EAW58840,EAW58841,NP_065944,Q86Y65,Q9P1Z9 Hs.435629 BDAG1|DKFZp434I2420|DKFZp686B2031|DKFZp686G1725|FLJ41397|FLJ50036|KIAA1529 Behcet's Disease Associated Gene 1|hypothetical protein LOC100499483 protein-coding 1313944 C9orf21 chromosome 9 open reading frame 21 16341674,15164053,12477932,12234665,14710190 195827 NM_153698,AL353578,CH471174,BC136501,BC136503,BF445089,BK000255,BM843088,BU631382 NP_714542,CAI40533,CAI40534,CAI40535,EAW92661,EAW92662,EAW92663,AAI36502,AAI36504,DAA00065,Q5JU03,Q7RTV5 Hs.44640 OTTHUMP00000021724|OTTHUMP00000021726|hypothetical protein LOC195827 protein-coding 1315272 C9orf23 chromosome 9 open reading frame 23 This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq] 15489334,15164053,12477932,17207965 138716 NM_148179,NM_148178,AL160270,CH471071,CS072470,AL528391,BC032136,BQ224958,CR619309 NP_680545,NP_680544,CAI13161,EAW58443,EAW58444,CAI93608,AAH32136,Q8N5L8,ADQ32255 Hs.15961 MGC29635|bA296L22.5 alba-like protein C9orf23 protein-coding 1322222 C9orf24 chromosome 9 open reading frame 24 This gene was isolated using microarray hybridization to screen for gene expression differences between fetal and adult testes. The conserved testis development-related genes found in both human and mouse testes may include genes that are likely to be involved in testicular functions, including spermatogenesis. This gene had higher expression in adults, compared to 6-month embryos. The specific function of this gene product has not been determined. Alternative splicing has been observed at this locus and three transcript variants, each encoding a distinct isoform, have been identified. [provided by RefSeq] 17207965,19213785,15862967,15242845,14702039,12477932,12029067,9373149,8125298 84688 NM_032596,NM_147168,NM_147169,AL356494,CH471071,AF367474,AK058087,AK094751,AK225981,AW961020,BC022084,BC029484 ADQ31579,NP_115985,NP_671697,NP_671698,CAI15975,CAI15976,CAI15977,CAI15978,CAI15979,CAI15980,EAW58456,EAW58457,EAW58458,EAW58459,AAK53410,BAB71657,BAC04412,AAH22084,AAH29484,Q5T598,Q8NCR6 Hs.50334 CBE1|MGC32921|MGC33614|NYD-SP22|bA573M23.4 OTTHUMP00000000495|OTTHUMP00000000498|ciliated bronchial epithelium 1|testes development-related NYD-SP22 protein-coding 1350147 C9orf25 chromosome 9 open reading frame 25 The protein encoded by this gene has homologs that have been identified in mouse and macaque. The mouse and human proteins have a putative prenyl group binding site (CAAX box) at their C-terminus. A diverse list of proteins are known or strongly presumed to be the target of post-translational modification by the attachment of either a farnesyl or a geranyl-geranyl group to a cysteine residue at the C-terminus. The function of this protein has not been determined. [provided by RefSeq] 17081983,15489334,15164053,14702039,12477932,9110174,8619474,16169070,16344560 203259 NG_027971,NM_147202,AL160270,AL356494,CH471071,AF131828,AK022819,AK026087,AK091262,AK096350,AK123887,AK294054,AK299882,AL833397,BC015785,BC025348,BC041009,CR608082,CR612535,DA110626,NM_001184940,NM_001184941,NM_001184942,NM_001184943,NM_001184944,NM_001184945 CAI15972,NP_671735,CAI13146,CAI13147,CAI13149,CAI13150,CAI13151,CAI13152,CAI13153,CAM16095,CAI15967,CAI15969,CAI15970,CAI15971,CAI15973,CAI15974,CAM22385,EAW58454,EAW58455,BAG53270,BAG57402,BAG61730,AAH25348,AAH41009,Q5T593,Q8IW50,NP_001171869,NP_001171870,NP_001171871,NP_001171872,NP_001171873,NP_001171874 Hs.493771 FLJ39031|bA573M23.5 OTTHUMP00000021273|OTTHUMP00000021275|OTTHUMP00000021277|OTTHUMP00000021279|hypothetical protein LOC203259 protein-coding 1343338 C9orf27 chromosome 9 open reading frame 27 12477932,10492169,20583170 58483 NR_024032,AL732367,CH471090,AB021923,BC104240,BC104241,BC112996,BC112997,BC120871,BC128039 EAW87438,BAA96243,Q9P2X8 Hs.23367 EST-YD1|MGC126098|MGC126099 miscrna 4108078 C9orf29 chromosome 9 open reading frame 29 12477932,15164053,15489334 652972 AL135787,BC031236,NR_034087 AAH31236,CAI12403,CAI12404,Q49AS3 Hs.551134 MGC39589 miscrna 1320010 C9orf3 chromosome 9 open reading frame 3 737633 15489334,15164053,14702039,12477932,15342556,16344560,15687497,20379614,20932654 737633 84909 AI982632,AK098242,AK296699,BP274281,BQ448239,DA222106,NM_001193329,NM_001193331,BX099259,DA521148,NG_027833,AK298959,AK300486,BC020194,BC029616,BX648970,CR592311,CR609086,CR626537,CR626738,AL157936,AL353768,AL354893,AL807757,CH471174,AF043896,AF043897,AJ560639,AK027581,AK057450,AK296782,NM_032823,NM_001193330 BAG59293,CAI41128,NP_001180258,NP_001180260,BAG59360,BAG61055,BAG62201,AAH20194,AAH29616,Q8N6M6,NP_116212,CAI13037,CAI13038,CAI13039,CAI13040,CAI13041,CAI41123,CAI41124,CAI41125,CAI41126,CAI41127,CAI41325,CAI41326,CAI41327,EAW92618,EAW92619,EAW92620,EAW92621,EAW92622,EAW92623,CAD90259,BAB55210,BAB71491,NP_001180259 Hs.434253 AOPEP|AP-O|APO|C90RF3|FLJ14675|FLJ40923|FLJ55832|ONPEP OTTHUMP00000021701|OTTHUMP00000021702|aminopeptidase O protein-coding 1603187 C9orf30 chromosome 9 open reading frame 30 15334068,14702039,12477932,15146197,16344560 91283 NM_080655,AL353805,CH471105,AK092292,AK314924,AY598327,BC008993,CR599657,CR608769,CR616245,CR595218,CR601135,BI596498,BI600290,BM914752,BU620865,CN366267,DA424604,DR159535,NM_001198805,NM_001198806,NM_001198807 NP_542386,CAI12539,CAI12540,CAI12541,CAI12542,EAW58932,EAW58933,BAG37432,AAT06738,AAH08993,Q96H12,NP_001185734,NP_001185735,NP_001185736 Hs.530272 FLJ34973|L8|MGC17337 OTTHUMP00000021792|OTTHUMP00000021794|hypothetical protein LOC91283 protein-coding 1603983 C9orf31 chromosome 9 open reading frame 31 15164053 57000 Q9NRJ2 XM_928521,AL513122,AF220263 XP_933614,CAI14412,AAF89164,Q9NRJ2 Hs.522373 MOST2 protein-coding 1347051 C9orf33 chromosome 9 open reading frame 33 90477 O75562,Q5JUI2 AF072164,AL160054 AAC24864,CAI41367,O75562,Q5JUI2 Hs.667154 HFSE-1 protein-coding 1353607 C9orf35 chromosome 9 open reading frame 35 414160 AL163192 chromosome 9 open reading frame 35 protein-coding 1349397 C9orf36 chromosome 9 open reading frame 36 26165 NM_015667,BC040528 1343340 C9orf37 chromosome 9 open reading frame 37 While this gene appears to be transcribed and translated to make a protein, no function has been assigned to the protein. [provided by RefSeq] 15164053,12477932,10931946 85026 NM_032937,AL365502,CH471090,AF267857,AW015916,BC011781,BC066646,BC117267,CR594057,CR605436,DB727790 NP_116326,CAI14590,EAW88407,EAW88408,AAG44726,AAH66646,AAI17268,Q9H2J1,ADR82841 Hs.522520 AD038|chromosome 9 open reading frame 37 protein-coding 1352754 C9orf38 chromosome 9 open reading frame 38 29044 Q9UI66 AF090921,XM_939946,AL353718,XM_927012 AAF24038,Q9UI66,XP_932105,XP_945039,CAH74115 Hs.676462 PRO0365 protein-coding 1346527 C9orf4 chromosome 9 open reading frame 4 15164053,10603000 23732 NM_014334,AL358815,CH471105,AF155065,BF514667,AI089389 NP_055149,CAI15131,EAW59040,AAF28159,Q9P0K9,AAI56448 Hs.347537 CG-6|CG6 hypothetical protein LOC23732 protein-coding 1350600 C9orf40 chromosome 9 open reading frame 40 15489334,15164053,14702039,12477932,9373149,8125298,17081983 55071 NM_017998,AL158825,CH471089,AK000972,AK225349,BC039588,BM126413,CR596886,CR599227 NP_060468,CAI12575,EAW62564,BAA91449,AAH39588,Q8IXQ3 Hs.532296 FLJ10110|FLJ25795 hypothetical protein LOC55071 protein-coding 1323541 C9orf41 chromosome 9 open reading frame 41 737633 15489334,15164053,14702039,12477932,17207965 737633 138199 NM_152420,AL158825,CH471089,AK098661,AK299691,BC034033,BX538061,BX647386 NP_689633,CAI12576,CAI12577,CAI12578,EAW62565,EAW62566,EAW62567,BAC05369,BAG61596,AAH34033,CAD97992,Q8N4J0,ACE87692,ACE87004,ADQ32135 Hs.567688 FLJ25795 hypothetical protein LOC138199 protein-coding 1345519 C9orf43 chromosome 9 open reading frame 43 737633 15489334,15164053,12477932,20583170 737633 257169 NM_152786,AL137066,CH471090,AK313867,BC026884,BC033037,AK301872 AAH33037,Q8TAL5,NP_689999,CAH70101,EAW87383,EAW87384,EAW87385,EAW87386,BAG36595,AAH26884,BAG63309 Hs.632691 MGC17358 hypothetical protein LOC257169 protein-coding 1348848 C9orf44 chromosome 9 open reading frame 44 14702039,12477932 158314 NR_027341,AK023662,AL354751,BC128384 Hs.149940 miscrna 1342495 C9orf45 chromosome 9 open reading frame 45 737633 15489334,15164053,14702039,12477932 737633 81571 NR_026677,AL365338,AF251293,AJ420426,AK025814,AK123844,BC015678,BC034918,BX648949,CR749230,AI699420 CAH70297,AAG44593,CAH18086,ABM83736,ABM87055 Hs.708072,Hs.694157 C9orf45|DKFZp779O012|FLJ22161|GL012 miscrna 1315681 C9orf46 chromosome 9 open reading frame 46 737633 18029348,15489334,15164053,14702039,12477932,10931946,16169070,20379614,17207965,20877624 737633 55848 BC008212,BC036853,AK312736,NM_018465,AL135786,CH471071,AF220050,AF225420,AK027594 AAH08212,Q9HBL7,BAG35607,NP_060935,CAH70364,EAW58764,EAW58765,EAW58766,AAF67643,AAG09722,BAB55219,ADQ32787 Hs.584242 AD025|FLJ14688|FLJ39176|MDS030 5033414D02Rik|transmembrane protein C9orf46 protein-coding 1606405 C9orf47 chromosome 9 open reading frame 47 12477932,15164053,14702039 286223 NM_001001938,NM_001142413,AL772202,AK094842,AK127854,AK130650,AL831887,AY333281,BC136895,BC144432,CK905850 NP_001001938,NP_001135885,CAI16741,BAC04433,BAC87162,AAP93864,AAI36896,AAI44433,Q6ZRZ4 Hs.585118 C9orf108|FLJ37523|bA791O21.3 hypothetical protein LOC286223 protein-coding 1317081 C9orf48 chromosome 9 open reading frame 48 737633 12477932 737633 347240 Q5T7B8 CH471071,AK125180,AK125872,BC048311,BC110502,BC110503,NM_194313,AL353662 CAI15919,EAW58466,BAC86074,BAC86329,AAH48311,AAI10503,AAI10504,Q5T7B8,NP_919289 Hs.661678 FLJ43884|MGC125677|MGC125678 protein-coding 1319034 C9orf5 chromosome 9 open reading frame 5 21130836,10564813,16341674,15489334,15342556,15164053,14702039,12477932 23731 NM_032012,AL354797,AL358815,AL669894,CH471105,AA465408,AF086175,AF153415,AK074248,AK090543,AK095537,AK172815,AK299952,AL556162,AL833960,BC014248,BE675782,BM817899,BP351493,BP360669,CR607010,CR616564,CR621019,CX865814,DC341553 NP_114401,CAI39466,CAI39474,CAI15128,CAI13317,EAW59038,EAW59039,AAG43365,BAD18785,BAG61779,CAD38810,AAH14248,Q9H330 Hs.308074,Hs.621479 CG-2|CG2|FLJ23668|FLJ33224 OTTHUMP00000215869|protein CG-2|transmembrane protein C9orf5 protein-coding 1606874 C9orf50 chromosome 9 open reading frame 50 16344560,14702039,12477932 375759 NM_199350,AL391056,AL590369,CH471090,AK093122,AW468767,AW958564,AW958565,BC112353,DB024443 NP_955382,CAI14633,CAI14505,EAW87891,EAW87892,AAI12354,Q5SZB4 Hs.124223 FLJ35803 hypothetical protein LOC375759 protein-coding 2290029 C9orf51 chromosome 9 open reading frame 51 647044 XM_930041,XM_001713954,XM_940136,AL390726 XP_935134,XP_001714006,XP_945229,Q5VWG5 bA392E22.4 protein-coding 1347500 C9orf53 chromosome 9 open reading frame 53 17081983,15164053,21048031 51198 NR_024274,AL449423,AF211119,BX091351 CAH70598,AAF22974,Q9UH64 Hs.721053 bA149I2.3 miscrna 1350435 C9orf56 chromosome 9 open reading frame 56 414154 1342941 C9orf57 chromosome 9 open reading frame 57 737633 15489334,15164053,12477932 737633 138240 NM_001128618,AL138751,AL583829,CH471089,BC036255,BC044620,BC053956,BC130404,BC144273 NP_001122090,CAH72770,EAW62527,AAI30405,AAI44274,Q5W0N0 Hs.371235 RP11-346E17.3 hypothetical protein LOC138240 protein-coding 1352417 C9orf6 chromosome 9 open reading frame 6 12477932,15607035,17207965 54942 NM_017832,AL354797,CH471105,AF153417,AK000464,AK310297,BC015795,BC051827,CR601308,CR609752 NP_060302,CAI39467,CAI39469,EAW59032,EAW59033,EAW59034,AAG43367,BAA91183,AAH15795,Q9NX38,ADQ32640 Hs.29276 CG-8|FLJ20457 hypothetical protein LOC54942 protein-coding 1343208 C9orf62 chromosome 9 open reading frame 62 737633 12477932 737633 157927 Q5T7E2,Q8N4C0 XM_926593,XM_938976,AL353615,BC034752 XP_931686,XP_944069,CAI15674,AAH34752,Q5T7E2,Q8N4C0 Hs.559511 MGC35463|RP11-555H7.1 protein-coding 1322751 C9orf64 chromosome 9 open reading frame 64 737633 15489334,15164053,14702039,12477932 737633 84267 NM_032307,AL354733,CH471089,AK090882,BC004407,BC137461,BC137462,BX116423,DB464056 NP_115683,CAI16015,CAI16016,CAI16017,EAW62672,EAW62673,EAW62674,BAC03538,AAI37462,AAI37463,Q5T6V5,Q5T6V6,Q5T6V7 Hs.208914 MGC10999|RP11-575L7.5 OTTHUMP00000021563|hypothetical protein LOC84267 protein-coding 1347775 C9orf66 chromosome 9 open reading frame 66 15164053,14702039,12477932 157983 NM_152569,AL158832,AK055720,BC111423 NP_689782,CAI16111,BAB70995,AAI11424,Q0VG94,Q5T8R8 Hs.190877 FLJ31158|RP11-59O6.1 hypothetical protein LOC157983 protein-coding 1320709 C9orf68 chromosome 9 open reading frame 68 20379614,17207965,16344560,15489334,15164053,14702039,12477932 55064 DA234263,H05132,NM_001039395,AL136231,AL162587,CH471071,AI680014,AK000920,AK295831,AK301790,BC034293,BC036349,BX649030,DA926064 AAH34293,ADQ32396,NP_001034484,CAC12704,CAI41263,CAI41265,CAI41269,EAW58783,EAW58784,BAA91425,BAG58646,BAG63245,Q8N4H0,Q9NWF6 Hs.179615 FLJ10058|RP11-280I16.2|bA6J24.2 OTTHUMP00000214972|OTTHUMP00000214974|OTTHUMP00000214976|hypothetical protein LOC55064 protein-coding 1349018 C9orf69 chromosome 9 open reading frame 69 16344560,14702039,12477932 90120 NM_152833,AL138781,AK023162,AK091349,BC009229,BC013282,BC014304,BC021231,BC064970,BC084549,BC092490,BC111053,CR602592,DA685158 NP_690046 Hs.287411 bA83N9.1 hypothetical protein LOC90120 protein-coding 1322993 C9orf7 chromosome 9 open reading frame 7 16344560,16303743,15489334,15164053,14702039,12975309,12477932,18940312,19737521 11094 NM_001135775,AL593848,CH471090,CQ782808,CS051223,CS051397,AJ011373,AK074852,AK075416,AK075548,NM_017586,AK296343,AK298820,AK304524,AK311325,AL137319,AY358452,BC030558,DA699497,DB165724 NP_060056,NP_001129247,EAW88089,EAW88090,CAF86035,CAI72107,CAI72193,CAB66156,BAC11245,BAC11606,BAC11691,BAH12324,BAH12877,BAH14205,AAH30558,Q9UGQ2,AAQ88817 Hs.62003 D9S2135|FLOWER OTTHUMP00000022495|calcium channel flower homolog protein-coding 1351403 C9orf70 chromosome 9 open reading frame 70 737633 15489334,12477932 737633 84850 NR_026663,AL137071,CH471071,BC007366 EAW58791 Hs.676113 MGC16153 miscrna 1353835 C9orf71 chromosome 9 open reading frame 71 737633 15164053,15489334,12477932 737633 169693 NM_153237,AL353616,CH471089,BC029780 NP_694969,CAH71904,EAW62461,AAH29780,Q8N6L7,ABM81723,ABM84878 Hs.663056 MGC34760|RP11-274B18.1 transmembrane protein C9orf71 protein-coding 1602828 C9orf72 chromosome 9 open reading frame 72 20801718,15489334,15164053,14702039,12477932,19734901,20423481 203228 NM_018325,NM_145005,AL451123,CH471071,AK001971,AK057806,AK291425,AL832229,AL832467,BC020851,BC039112,BC068445,BG722125 ADR82709,EAW58560,NP_060795,NP_659442,CAI13043,CAI13044,EAW58558,EAW58559,EAW58561,BAA92009,BAB71583,BAF84114,AAH68445,Q96LT7,Q9NUW0 Hs.493639 MGC23980|RP11-27J8.2 hypothetical protein LOC203228 protein-coding 1345654 C9orf73 chromosome 9 open reading frame 73 14702039 286371 AK095132 Hs.711420 protein-coding 1352518 C9orf75 chromosome 9 open reading frame 75 737633 12477932,15231748,19603065,20170898,20170899 737633 286262 NM_173691,NM_001128228,AL929554,CH471090,CQ782662,AK074735,BC023530,BC048807,BC071831,BC098411,BC111500,BC128601,BC143385,BC065498,NG_027801 NP_775962,NP_001121700,CAH72884,EAW88364,CAF85906,BAC11169,AAH23530,AAH48807,AAH71831,AAH98411,AAI11501,AAI28602,AAI43386,Q4KMQ1,Q86WR5,Q8IZ53,CAH72883 Hs.323445 C9orf75|DFNB79|FLJ90254|MGC131933|RP11-350O14.7 taperin protein-coding 1313051 C9orf78 chromosome 9 open reading frame 78 16712791,17081983,15592455,15489334,15302935,15164053,14702039,12477932,12097419,11042152,8889548,16169070 51759 NM_016520,AL158207,CH471090,AF151054,AF218421,AK057004,AK097577,AL137549,AY632862,BC007664,BC017570,BC037173,BU674575,CB128496,CR604621,CR606901,CR608293 NP_057604,CAC88169,EAW87909,EAW87910,AAF36140,AAF37561,BAG51840,CAB70805,AAT46619,AAH07664,AAH17570,Q6GVN4,Q9NZ63,Q9P0Q6 Hs.278429 HSPC220|bA409K20.3 chromosome 9 open reading frame 78|hepatocellular carcinoma-associated antigen 59 protein-coding 1351279 C9orf79 chromosome 9 open reading frame 79 12477932,15164053,14702039 286234 NM_178828,AL772337,CH471089,AK093185,AK093206,AK125845,AL834438,BC137349,HC006860,HC044793 NP_849150,CAI23630,EAW62739,EAW62740,BAC04087,BAC04096,BAC86315,CAD39098,AAI37350,Q6ZUB1,Q8NA33,CBH19235,CBH30726 Hs.130672 FLJ35866 FAM75-like protein C9orf79|XXyac-YM21GA2.5 protein-coding 1317489 C9orf80 chromosome 9 open reading frame 80 737633 15489334,15164053,12477932,11042152,18029348,18449195,19605351,19683501,19786574 737633 58493 NM_021218,AL390067,CH471105,AF161409,AF161411,AK000637,AK310007,BC013097,BC014881,BC065210,CR607302 NP_067041,CAH71934,CAH71935,CAH71936,EAW59113,AAF28969,AAF28971,AAH13097,AAH14881,AAH65210,Q9NRY2,ABM83331,ABM86542 Hs.658575 HSPC043|MISE|RP11-276E15.2|SOSSC|SSBIP1|hSSBIP1 OTTHUMP00000021941|SOSS complex subunit C|SOSS-C|SSB-interacting protein 1|hSSB-interacting protein 1|minute INTS3/hSSB-associated element|sensor of single-strand DNA complex subunit C|sensor of ssDNA subunit C|single-stranded DNA-binding protein-interacting protein 1 protein-coding 1344567 C9orf82 chromosome 9 open reading frame 82 17207965,19240061,17081983,15489334,15164053,14702039,12477932,9110174,8619474,16169070,15302935,15342556,20379614 79886 NM_024828,AL356133,CH471071,AF131768,AK023719,AK300739,AK301673,BC014658,BC071953,CR599142,BP228742,BP374752,NM_001167575 NP_079104,CAH72640,EAW58576,EAW58577,EAW58578,EAW58579,BAB14655,BAG62409,BAG63146,AAH14658,AAH71953,Q9H8G2,ADQ32016,NP_001161047 Hs.178357 FLJ13657|RP11-337A23.1 hypothetical protein LOC79886 protein-coding 1351188 C9orf84 chromosome 9 open reading frame 84 16344560,15164053,14702039,12477932 158401 NM_173521,NM_001080551,AL135787,AL354877,AL356491,CH471105,AK057341,AK126055,AL704322,AL833535,BC041858,BC112357,BC144680,DB066382 NP_775792,NP_001074020,CAI12399,CAM13383,CAH73769,CAH73770,CAH72338,CAH72339,EAW59088,EAW59089,EAW59090,BAB71436,BAC86417,AAI12358,Q5VXU9,Q6ZU10 Hs.428209 FLJ32779|FLJ44067|MGC43661 OTTHUMP00000021923|hypothetical protein LOC158401 protein-coding 1605873 C9orf85 chromosome 9 open reading frame 85 15489334,15164053,14702039,12477932,17207965,16712791 138241 NM_182505,AL138751,CH471089,AK307186,AK311206,BC010179,BC028019,BC052375,BQ020559,BQ431408,BX104173,CB113688 NP_872311,CAH72766,CAH72768,CAH72769,EAW62523,EAW62524,EAW62525,EAW62526,ADQ32587,AAH52375,Q96MD7 Hs.534190 MGC61599|RP11-346E17.2 OTTHUMP00000021461|hypothetical protein LOC138241 protein-coding 1316912 C9orf86 chromosome 9 open reading frame 86 737633 15489334,12970870,16189514,19433581,17962191,17081983,16582619,15164053,14702039,12477932,12646258,8889548 737633 55684 NM_024718,AL355987,CH471090,AF318367,AK000963,AK001184,AK023107,AK027586,AK094382,AK098086,AK128154,AK307431,AL713707,BC002945,BC018960,BC021095,BC024964,BC035786,BQ437663,CR602099,CR620864,CX784448,DQ099383,DQ141240,EF156752,EF156753,GQ169126,GQ169127,BQ184080,CR989427,NM_001173988,NM_001173989 NP_078994,CAI12685,CAI12686,CAI12689,CAI12690,CAI12691,EAW88282,EAW88283,EAW88284,EAW88285,EAW88286,AAL55874,BAA91446,BAA91541,BAB14408,BAB55213,BAG52862,BAG54639,CAD28504,AAH02945,AAH21095,AAH35786,AAZ13759,AAZ73768,ABO84837,ABO84838,ACS45171,ACS45172,Q3YEC7,Q9NW45,Q9NWD6,NP_001167459,NP_001167460 Hs.370555 FLJ10101|FLJ13045|Parf|RBEL1|RP11-216L13.9|bA216L13.9|pp8875 OTTHUMP00000022610|Rab-like GTP-binding protein 1|Rab-like GTP-binding protein 1C|Rab-like protein 1|partner of ARF|putative GTP-binding protein Parf protein-coding 1314456 C9orf89 chromosome 9 open reading frame 89 737633 15637807,15489334,15164053,14702039,12477932 737633 84270 AL451065,CH471089,AK057716,AK091611,AK097977,AK128259,AW207349,BC004500,BC038856,BC042201,BC091476,CR592085,CR620457,NM_032310 NP_115686,CAI95110,EAW62850,EAW62851,EAW62852,EAW62853,EAW62854,EAW62855,BAB71550,AAH04500,AAH38856,Q96LW7 Hs.434213 BinCARD|MGC110898|MGC11115|bA370F5.1 Bcl10-interacting protein with CARD|bcl10-interacting CARD protein protein-coding 1353846 C9orf9 chromosome 9 open reading frame 9 12477932,16169070,16303743,15489334,15164053,14702039,21048031 11092 NM_018956,AL445645,CH471090,AJ011375,AK075259,AK130389,BC012940,CR457210,CQ783377 NP_061829,CAH72110,CAH72111,EAW88018,EAW88019,EAW88020,CAB66158,BAC11503,BAC85340,AAH12940,CAG33491,Q6ZNY5,Q96E40,CAF86580 Hs.62595 FLJ26879 Rsb-66 protein|Rsb66 homolog protein-coding 1312125 C9orf91 chromosome 9 open reading frame 91 737633 16381901,16344560,15489336,14702039,12477932,11230166,11076863,9110174,8619474 737633 203197 NM_153045,AL160275,CH471090,AF038174,AK095364,AK098022,AK289383,AL557166,AL834412,BC010029,BC019913,BC062550,BC107133,BC107134,BI553818,BQ049157,BX649023,DB199443 NP_694590,CAH73482,CAH73483,EAW87426,EAW87427,EAW87428,BAC04537,BAF82072,CAD39074,AAH19913,AAH62550,AAI07134,AAI07135,Q5VZI3,CAL37803 Hs.522357 DKFZp547P234|FLJ38045|MGC129868|MGC129869|RP11-402G3.2 transmembrane protein C9orf91 protein-coding 1349109 C9orf92 chromosome 9 open reading frame 92 15164053,11329013 100129385 XM_001725127,XM_001725126,XM_001723009,XM_001723011,XM_001722587,XM_001722586,AL513424 XP_001725179,XP_001725178,XP_001723061,XP_001723063,XP_001722639,XP_001722638,A6NGG3 Em:AL513424.1 chromosome 9 open reading frame 92 protein-coding 1348779 C9orf93 chromosome 9 open reading frame 93 737633 15489334,15164053,14702039,12477932,20379614 737633 203238 NM_173550,AL359877,AL513423,AL592153,AL662788,AF440401,AK094506,AK096586,AK128581,AK308284,AL832443,AY422473,BC026063,BC040738,BC064849,BC144214,BC150600,BX537933,CR936775 NP_775821,CAI39676,CAI39677,CAI94977,CAI95316,CAI95333,AAM20913,BAC04370,BAC04823,BAC87511,CAH10655,AAR13704,AAH26063,AAH64849,AAI44215,AAI50601,CAD97907,Q5JST2,Q5JST5,Q69YN6,Q6TFL3,Q7Z3F8,Q8NCV3 Hs.17267 DKFZp686P12113|FLJ39267|FLJ46740|MGC50805|bA536D16.1|bA778P13.1 hypothetical protein LOC203238|myosin tail domain containing protein protein-coding 1321274 C9orf94 chromosome 9 open reading frame 94 15489334,15164053,14702039,12477932 206938 AK092602,NM_001040272,AL158150,AL591423,AK123028,AK128724,BC100788,BC100789,BC100790,BX640951 NP_001035362,CAM14351,CAM14352,CAM13086,BAC03925,BAC87592,AAI00789,AAI00790,AAI00791,CAE45975,Q496M7,Q496M8,Q6MZQ3,Q6ZQU1 Hs.643388 FLJ35283|MGC118803|MGC118805 protein-coding 1343469 C9orf95 chromosome 9 open reading frame 95 Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM] 737633 17698003,15489334,15164053,15137942,14702039,12477932,16712791 737633 54981 NM_001127603,NM_017881,NR_023352,AL133548,CH471089,AK000566,AK023413,AK097144,AY611480,BC001366,BC026243,BC036804,CB135264,CR611964,CS463838 NP_001121075,NP_060351,CAH71569,CAH71570,CAH71571,EAW62568,EAW62569,BAA91259,BAG51188,BAG53425,AAT11928,AAH01366,AAH36804,Q5W125,Q9NWW6,CAM12700 Hs.494186 FLJ20559|NRK1|RP11-235O14.2|bA235O14.2 NRK 1|OTTHUMP00000021494|RNK 1|nicotinamide riboside kinase 1|nicotinic acid riboside kinase 1|nmR-K 1|ribosylnicotinamide kinase 1|ribosylnicotinic acid kinase 1 protein-coding 1316505 C9orf96 chromosome 9 open reading frame 96 737633 15489334,15164053,14702039,12477932,12471243 737633 169436 AL593848,AL158826,CH471090,AK131533,AK131545,AK294947,BC036504,NM_153710 NP_714921,CAI12843,EAW88075,EAW88076,EAW88077,EAW88078,EAW88079,EAW88080,EAW88081,BAD18679,BAG58022,AAH36504,Q8NE28 Hs.720195 MGC43306|RP11-244N20.8|SgK071|Sk521 protein kinase-like protein SgK071|sugen kinase 071 protein-coding 1322057 C9orf97 chromosome 9 open reading frame 97 737633 16344560,15498874,15489334,15164053,15146197,14702039,12477932 737633 158427 AK291199,BC022958,BC035604,BU625565,BX538308,BX648493,CN298691,DA735730,AL162385,CH471105,AF258575,AK056453,AK056752,AK094043,AK122809,AK128615,NM_139246 BAC87530,BAF83888,AAH22958,AAH35604,Q5T7W7,Q5T7X0,Q5T7X1,Q8TBB8,NP_640339,CAI12856,CAI12857,CAI12858,CAI12859,CAI12860,EAW58848,EAW58849,EAW58850,EAW58851,AAG23778,BAB71188,BAB71271,BAG53739 Hs.723236 C9orf97|FLJ36724|RP11-244N9.5 PP4189|rhodanese domain-containing protein 2|thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 protein-coding 1350831 C9orf98 chromosome 9 open reading frame 98 737633 19240061,14702039,12477932,21080915,17207965,18839057,20379614 737633 158067 NM_152572,AL160165,AL445645,CH471090,AK057266,AK093333,AK093446,AK292186,BC034776,BC037402,BC050576 NP_689785,CAH70535,CAH72109,EAW88012,EAW88013,EAW88014,EAW88015,EAW88016,EAW88017,BAB71402,BAC04134,BAC04168,BAF84875,AAH34776,AAH50576,Q8N9Z7,Q96MA6,ADQ31793 Hs.421340 C9orf98|DDX31|FLJ32704|FLJ36014|RP11-143F18.1 putative adenylate kinase-like protein C9orf98 protein-coding 1320302 CA1 carbonic anhydrase I Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA1 is closely linked to CA2 and CA3 genes on chromosome 8, and it encodes a cytosolic protein which is found at the highest level in erythrocytes. Transcript variants of CA1 utilizing alternative polyA_sites have been described in literature. [provided by RefSeq] 1580863 3104879,3088232,1916821,1602151,827930,804171,406674,2121614,18029348,17464559,17314045,16870440,15837325,15836783,15489334,14675565,12477932,12009884,11680594,11392054,9879596,7866410,7574487,6781336,4632246,4625868,4217196,4207120,3124707,15342556,19536309,2511043 759 NM_001738,NM_001128829,NM_001128830,NM_001128831,AC025800,CH471068,AI802646,BC027890,BU659695,BU664306,BU665210,M33987,X05014,BP261967,BU655910,BU656154,BU659301,NG_016221,NM_001164830 NP_001729,NP_001122301,NP_001122302,NP_001122303,EAW87129,EAW87130,EAW87131,EAW87132,AAH27890,AAA51910,CAA28663,P00915,ABM81856,ABM85017,NP_001158302 Hs.23118 Car1 CA-I|CAB|carbonate dehydratase I|carbonic anhydrase 1|carbonic anhydrase B|carbonic dehydratase protein-coding 1352724 CA10 carbonic anhydrase X This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 11311946,19240061,19172221,17081983,16344560,15499993,15489334,15328829,12975309,12500287,12477932,12044474,11230166,9921901,8673298,20379614,21102462 56934 NM_001082534,NM_001082533,NM_020178,AC002090,AC004108,AC005883,AC006083,AC016473,AC092713,CH471109,AB036836,AF288385,AK294652,AK313001,AL161812,AW135066,AY358509,BC020577,BC029865,BC047456,BC068462,CR597480,CR609088,CR749607,DA110822,DA128892,DA518921,AB001597 NP_001076003,NP_001076002,NP_064563,BAB46928,BAB00615,AAK11974,BAG57827,BAG35837,CAB82105,AAQ88873,AAH20577,AAH29865,AAH47456,AAH68462,CAH18402,Q68D28,Q9NS85,EAW94558 Hs.463466 CA-RPX|CARPX|HUCEP-15 CA-RP X|CARP X|carbonic anhydrase-related protein 10|carbonic anhydrase-related protein X|cerebral protein 15|cerebral protein-15 protein-coding 1348503 CA11 carbonic anhydrase XI Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. 1580863 9878252,16335952,15489334,12975309,12477932,12044474,11311946,10350627,9878543,18450452,21060863 770 NM_001217,AC008888,CH471177,AB018195,AF050106,AF067662,AY358967,BC002662,BT007265,BX440526,CR541772 NP_001208,EAW52376,EAW52377,EAW52378,BAA36840,AAD08802,AAC99689,AAQ89326,AAH02662,AAP35929,CAG46571,O75493,ACE87597,ACE86910 Hs.428446 CARP2|CARPX1 CA-RP II|CA-XI|CARP XI|CARP-2|carbonic anhydrase-related protein 11|carbonic anhydrase-related protein 2|carbonic anhydrase-related protein XI protein-coding 1315327 CA12 carbonic anhydrase XII Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 9636197,18029348,19291313,18451179,18336315,18322268,16416108,15849821,15489334,14702039,14578124,12923247,12854129,12676895,12477932,11680594,11493685,11420383,11238049,11101628,11083462,10666387,10611263,10512682,9770531,8524854,16169070,20215053,20398423,20434230,21035102,21040567,20509747 771 NM_206925,NM_001218,AC087525,CH471082,AF037335,AF051882,AK000158,AK096845,AK315769,BC000278,BC001012,BC011691,BC023981,BC087838,BM994285,BQ440047,BT006656,BU167720,BU944741,CA309380,CR618639,NG_028022 NP_996808,NP_001209,EAW77646,EAW77647,EAW77648,EAW77649,EAW77650,AAC63952,AAC39789,BAA90981,BAG53376,BAG38121,AAH00278,AAH01012,AAH11691,AAH23981,AAP35302,O43570,Q9NXM9,ABM84114,ABM87510,ACE87216,ACE87223,ACE86537,ACE86542 Hs.210995 CAXII|FLJ20151|HsT18816 CA-XII|carbonate dehydratase XII|carbonic anhydrase 12|carbonic dehydratase|tumor antigen HOM-RCC-3.1.3 protein-coding 1322168 CA13 carbonic anhydrase XIII Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM] 1580863 18336313,16344560,15836783,15489334,14702039,14600151,12477932,17207965 377677 NM_198584,AC011773,AC025800,CH471068,AK095314,BC052602,DB287770 NP_940986,EAW87128,BAC04528,AAH52602,Q8N1Q1,ADQ32140 Hs.127189 CAXIII|FLJ37995|MGC59868 CA-XIII|carbonate dehydratase XIII|carbonic anhydrase 13 protein-coding 1317436 CA14 carbonic anhydrase XIV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq] 1580863 20170095,20379614,10512682,17881426,16710414,15489334,14702039,14578124,12975309,12611920,12477932,12028451,11172051 23632 NM_012113,AL138795,CH471121,AB025904,AK074765,AK290609,AK295341,AK315469,AY358689,BC034412,BT020054 NP_036245,CAI22810,EAW53570,EAW53571,EAW53572,EAW53573,EAW53574,BAA85002,BAC11191,BAF83298,BAG58312,BAG37855,AAH34412,AAV38857,Q9ULX7,ABM92237,ABM84715,AAQ89052 Hs.528988 CAXiV CA-XIV|carbonate dehydratase XIV|carbonic anhydrase 14|carbonic dehydratase protein-coding 737257 CA2 carbonic anhydrase II CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. [provided by RefSeq] 1300048,1600698,1600710,1580863 1928091,3151020,114507,18029348,19371798,19034380,19012038,18942852,18580434,18539591,18323598,18247480,18189416,18083150,18060825,17881426,17631639,17363915,17319695,17319692,17202139,16996812,16825953,16687407,16475831,16344560,16265785,16169070,16106378,15952740,15837325,15837316,15836783,15667203,15489334,15453828,15300855,15218065,15062553,15049705,14760703,14736710,14718574,14675565,14578124,14567693,12933803,12826902,12566520,12501217,12477932,12411514,12171926,12138085,12056894,11956656,11606574,11457932,11264157,11076507,11063570,10821857,10820026,10811634,10423017,10333352,10231836,9890926,9774471,9541386,9453381,9336790,9205766,9150731,9143915,8834238,8460098,8128957,8127074,7930522,7627193,7574487,6817747,6407977,4624444,4621826,4207120,3925334,3221988,3151019,3121496,3108857,3107918,3081869,3000449,2850697,2123360,2121671,2117271,1977133,1925679,1602151,1542674,1301935,823150,20081808,20637176,20693695,14675051,19269136,19407386,19415900,19520834,19583303,19615732,19634894,19686046,20000378,20025241,20170095,20297840,20445237,20445238,20634585,20398423,20578724,20509747 1600698,1600710 760 NM_000067,NG_007287,AC084734,CH471068,M77178,M77181,X03251,AK312978,BC011949,BC035424,CR536526,CR541875,CR590312,CR591919,CR602161,CR603817,CR608877,CR613409,CR616325,DA431650,J03037,M36532,S69526,Y00339 NP_000058,EAW87136,AAA51909,CAA27012,BAG35815,AAH11949,CAG38763,CAG46673,AAA51908,AAA51911,AAB30170,CAA68426,P00918,Q6LD99,ABM82246,ABM85430 Hs.155097 CA-II|CAII|Car2 CAC|carbonate dehydratase II|carbonic anhydrase 2|carbonic anhydrase B|carbonic anhydrase C|carbonic dehydratase protein-coding 1353547 CA3 carbonic anhydrase III, muscle specific Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq] 1580863 3086182,19301202,18444244,18322545,16344560,15489334,14702039,12745799,12484342,12477932,12171926,11976500,11024467,10845711,9890711,9651514,8633035,8506074,7574487,6784712,6770531,6410007,6221502,6119426,3930440,3122635,3110380,3106467,3099285,3000276,2824285,1971453,1905166,1764784,1414196,1361281,120192,17207965 761 NM_005181,AC084734,AJ006473,CH471068,M29452,M29453,M29454,M29455,M29456,M29457,M29458,AK096880,AK300670,AK300677,AK313254,BC004897,DA421884 NP_005172,CAA07056,EAW87133,EAW87134,AAA52293,BAG53390,BAG62355,BAG62360,BAG36064,AAH04897,P07451,ADQ31847 Hs.82129 CAIII|Car3 CA-III|carbonate dehydratase III|carbonic anhydrase 3 protein-coding 1353429 CA4 carbonic anhydrase IV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq] 1600730,1580863 1311094,6811592,19211803,18344446,17881426,17652713,17409381,16344560,15563508,15489334,15090652,14567693,12477932,11994299,10231836,10090333,9632745,9385361,8942978,8903383,8809084,8675662,8325641,8064130,7672351,7625839,7581389,2116168,2111324,1901414,17207965,20801516,20308551,20450258 1600730 762 NM_000717,NG_012050,AC025048,CH471109,L10955,AI990988,AK289715,AK298710,BC057792,BC069649,BC074768,CR541766,DA113846,M83670 NP_000708,EAW94361,EAW94362,EAW94363,AAA35625,AAA35626,BAF82404,BAG60866,AAH57792,AAH69649,AAH74768,CAG46565,AAA35630,P22748,Q6FHI7,ADQ32513 Hs.89485 CAIV|Car4|RP17 CA-IV|carbonate dehydratase IV|carbonic anhydrase 4|carbonic dehydratase IV protein-coding 1347153 CA5A carbonic anhydrase VA, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. 1580863 12477932,8356065,7490083,17174092,10082753,9733757,20877624 763 NM_001739,AC127455,AC133539,CH471114,S80181,U25134,BC137405,BC137411,L19297 NP_001730,EAW95371,EAW95372,AAB47048,AAC99806,AAI37406,AAI37412,AAA02890,P35218 Hs.177446 CA5|CAV|CAVA CA-VA|carbonate dehydratase VA|carbonic anhydrase 5A, mitochondrial|carbonic anhydrase V, mitochondrial|carbonic dehydratase protein-coding 1343079 CA5B carbonic anhydrase VB, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq] 1580863 10677517,10409679,17174092,15489334,15342556,14702039,12477932,11303978,7574487,17207965 11238 NM_007220,NG_012766,AC096510,AC112497,CH471074,AA811880,AB021660,AK057568,AK291050,BC028142,BP371510 NP_009151,EAW98895,EAW98896,EAW98897,EAW98898,BAA76671,BAF83739,AAH28142,Q9Y2D0,ADQ32291 Hs.653287 CA-VB|MGC39962 carbonate dehydratase VB|carbonic anhydrase 5B, mitochondrial|carbonic dehydratase protein-coding 1346033 CA5BP carbonic anhydrase VB pseudogene 737633,1580863 16344560,12477932,12107413 737633 340591 NR_026551,AC112497,BC021816,BQ228866,CD675860,DB271346 Q8WTZ4,Q9P170 Hs.532326 CA5BL|PRO2325 pseudo 1344775 CA5P carbonic anhydrase V pseudogene 7490083,15837316,7490083 764,764 XM_113281,AC009086,NG_027849 pseudo 1323700 CA6 carbonic anhydrase VI The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq] 1580863 2433278,17499996,16710414,15342556,12477932,11875253,11553764,11304804,11303978,10705347,10523402,10415846,10207193,9784398,9691177,9439449,8429198,2505973,2113069,1899030,19721466,20379614,20631203 765 AF128418,AL139415,CH471130,AB102863,AB103091,AK300652,BC034350,BP333541,BP334640,BX282262,M57892,NM_001215 Q8N4G4,NP_001206,AAF22565,CAC42429,EAW71606,BAD89397,BAD89434,BAG62340,AAH34350,AAA51892,P23280,Q5FBW3,Q5FC00 Hs.100322 CA-VI|GUSTIN|MGC21256 carbonate dehydratase VI|carbonic anhydrase 6|salivary carbonic anhydrase|secreted carbonic anhydrase protein-coding 1315686 CA7 carbonic anhydrase VII Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20493921,1783392,15686895,15528236,15489334,12477932,12417987,11875253,10493829,7574487 766 NM_005182,NM_001014435,AC004638,AC044802,CH471092,M76420,M76421,M76422,M76423,M76424,M76425,AY075019,AY075020,BC033865,BI752037 NP_005173,NP_001014435,AAC23785,EAW83044,EAW83045,EAW83046,EAW83047,AAA51923,AAL78167,AAL78168,AAH33865,P43166,Q86YU0,ABM86190,ABW03694 Hs.37014 CAVII CA-VII|carbonate dehydratase VII|carbonic anhydrase 7|carbonic dehydratase VII protein-coding 1312313 CA8 carbonic anhydrase VIII The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq] 1580863 8977131,19461874,19172221,17219437,15489334,14702039,12611586,12536316,12477932,12044474,8482548,7821612,7587398,16169070,17207965,19360879 767 NM_004056,AC021393,AC132834,CH471068,AK090655,AK289470,AK293999,AK314538,AY075022,BC015531,BC069744,BC069794,BC108929,BM462961,BU182748,CR605437,L04656,NG_023193 NP_004047,EAW86824,EAW86825,EAW86826,BAG52209,BAF82159,BAG57361,BAG37128,AAL78170,AAH69744,AAH69794,AAI08930,AAA35653,P35219,ADQ32952 Hs.654388 CA-VIII|CALS|CAMRQ3|CARP|MGC120502|MGC99509 CA-related protein|carbonate dehydratase|carbonic anhydrase-like sequence|carbonic anhydrase-related protein protein-coding 1315034 CA9 carbonic anhydrase IX Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and the only tumor-associated carbonic anhydrase isoenzyme known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq] 2293190,2293194,2293199,2293200,2293204,2293196,2293198,2293201,2298945,2298947,2298946,2293191,2293193,2293195,2293197,1580863 8661007,19367501,19291313,19204726,19165203,19074859,19022520,19008051,18941400,18841153,18728663,18703501,18695901,18676750,18482982,18464292,18440050,18336316,18336315,18290322,18173856,18060036,18026188,17906661,17855694,17852557,17706406,17674038,17652430,17536770,17452775,17390110,17367605,17245699,17200340,16964400,16954440,16944313,16533775,16428489,16416108,16288478,16243791,16168127,15935515,15856466,15849821,15847702,15837325,15833446,15809767,15671533,15585626,15556624,15500003,15489334,15340161,15240538,15199132,15184875,15069539,14654550,14578124,14567991,12966427,12865916,12854129,12676895,12615703,12576453,12560438,12477932,12154057,12137853,11705854,11680594,11676494,11303978,11083462,10709109,9787087,9770531,9524195,9024293,8486430,8084592,1312272,20819778,20840814,21040473,21088149,18976937,19347577,19458084,19469910,19473055,19539328,19540352,19564335,19619339,19805286,19861127,19950233,20127031,20170095,20358226,20461082,20038959,20423227,20398423,20526721,20224781,19808899,19913121,20514415,20628086 2293190,2293194,2293199,2293200,2293204,2293196,2293198,2293201,2298945,2298947,2298946,2293191,2293193,2293195,2293197 768 NM_001216,AL133410,AL357874,CH471071,Z54349,AI023541,AJ010588,AL554705,BC014950,CR590646,CR597234,CR616345,CR620502,EF122496,X66839,HC729665 NP_001207,CAI10985,CAI13455,EAW58359,CAB82444,AAH14950,ABL67717,CAA47315,Q16790,ABM83134,ABM86330,CBL94025 Hs.63287 CAIX|MN CA-IX|P54/58N|RCC-associated antigen G250|RCC-associated protein G250|carbonate dehydratase IX|carbonic anhydrase 9|carbonic dehydratase|membrane antigen MN|pMW1|renal cell carcinoma-associated antigen G250 protein-coding 1314979 CAB39 calcium binding protein 39 1580863,1600678 17353931,19386264,18854318,16344560,15561763,15489334,15183188,14976552,14730349,14676191,14517248,12477932,10810093,8910387,20562859,16054041,19513107,19892943 1600678 51719 NM_016289,NM_001130849,NM_001130850,AC012507,AC084031,CH471063,AB073893,AF113536,AF134480,AF151824,AK000804,AK026335,AK292382,AK315692,BC020570,BG773506,CR593751,CR597291,DA886579,DB455871 NP_057373,NP_001124321,NP_001124322,AAY14829,EAW70932,EAW70933,AAF14873,AAP97257,AAD34061,BAF85071,BAG38055,AAH20570,Q53RN7,Q7Z4X0,Q9Y376 Hs.603930 CGI-66|FLJ22682|MO25 calcium-binding protein 39 protein-coding 1319011 CAB39L calcium binding protein 39-like 1580863 20562859,17353931,18592235,16344560,15489334,15057823,14702039,12601173,12477932,8889548,16054041,20379614 81617 NM_030925,AL136218,AL138875,CH471075,AA278473,AK022639,AK309011,AY211923,AY288977,BC010993,BX647518,CA450475,DA146462,DB279812,NM_001079670 NP_001073138,NP_112187,CAI10816,CAI10893,EAX08820,EAX08821,EAX08822,EAX08823,BAB14147,AAO65176,AAQ93064,AAH10993,Q86WE6,Q9H9S4 Hs.87159 FLJ12577|MO25-BETA|MO2L|RP11-103J18.3|bA103J18.3 OTTHUMP00000018411|OTTHUMP00000018412|OTTHUMP00000205794|U937-associated antigen|antigen MLAA-34|calcium-binding protein 39-like|mo25-like protein|sarcoma antigen NY-SAR-79 protein-coding 1343862 CABC1 chaperone, ABC1 activity of bc1 complex homolog (S. pombe) This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq] 1580863 15489334,14702039,12477932,11888884,18319074,15498874,18319072,16710414,16344560,16189514,20877624 56997 NM_020247,AL353689,CH471098,AB073905,AF218003,AI888739,AJ278126,AK074693,AK090494,AK092784,AK126200,AK293571,AK297735,AK300537,AK301012,AL137511,BC005171,BC129930,BX648860,DA925261,XR_110845,NG_012825 NP_064632,CAI19103,CAI19104,CAI19105,CAI19106,EAW69801,EAW69802,EAW69803,EAW69804,EAW69805,BAB91363,AAG17245,CAC00482,BAC11143,BAG52171,BAG57042,BAG60085,BAG62245,BAG62629,AAH05171,AAI29931,CAH56132,Q5T7A2,Q5T7A4,Q8NI60 Hs.118241 ADCK3|ARCA2|CABC1|COQ8|MGC4849|SCAR9 OTTHUMP00000035735|OTTHUMP00000035736|OTTHUMP00000035737|OTTHUMP00000038685|aarF domain-containing protein kinase 3|chaperone activity of bc1 complex-like, mitochondrial|chaperone, ABC1 activity of bc1 complex homolog|chaperone, abc1 activity of bc1 complex like (s. pombe)|chaperone-ABC1-like|coenzyme Q8 homolog protein-coding 732324 CABIN1 calcineurin binding protein 1 Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. At least four alternatively spliced transcripts have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq] 734676 9655484,17531200,15902271,15683985,15671033,15063762,14718166,14623296,12700764,12477932,11714752,10933397,10931822,10825153,10591208,10531067,9205841,9150134,17172641,19913121,20628086,19668210,19717561,19817957,20075944,20379614 734676 23523 AP000351,AP000352,AP000353,CH471095,Z92546,AB002328,AF072441,AK307522,AL390166,BC013099,BC021929,BC028969,BC041659,BC054497,NM_012295,AL703593,NM_001199281,NM_001201429 NP_036427,EAW59637,EAW59638,EAW59639,EAW59640,CAB62954,BAA20788,AAD40846,CAB99097,AAH21929,AAH28969,AAH41659,AAH54497,Q05C66,Q6PHY0,Q8IVX9,Q8WTX5,Q9NPU0,Q9Y6J0,NP_001186210,NP_001188358 Hs.517478 CAIN|KIAA0330|PPP3IN OTTHUMP00000198541|cain|calcineurin binding protein cabin 1|calcineurin inhibitor|calcineurin-binding protein cabin-1 protein-coding 1313589 CABLES1 Cdk5 and Abl enzyme substrate 1 CABLES1 is a cyclin-dependent kinase (CDK)-binding protein that plays a role in proliferation and/or differentiation (Zukerberg et al., 2004 [PubMed 14729625]).[supplied by OMIM] 737633,1580863 19247474,20189936,11706030,17101133,19266077,18391951,18059193,17982127,16964243,16177791,16177568,15489334,14729625,14702039,14637168,13679449,12612882,12477932,11955625,11733001,11585773,11527406,10896159,10873625,20694014,20546612 737633 91768 NR_023359,NM_001100619,NM_138375,AC011731,AC105247,CH471088,AF348525,AK025627,AK093243,AK296407,AK304880,BC004124,BC015686,BC037218,EF028204,EF444961 NP_001094089,NP_612384,EAX01147,EAX01148,AAL83906,BAC04107,BAG59072,BAG65617,AAH04124,AAH37218,ABL77400,Q8TDN4,ACA05957 Hs.11108 CABL1|CABLES|FLJ35924|HsT2563|IK3-1 CDK5 and ABL1 enzyme substrate 1|interactor with CDK3 1 protein-coding 1345026 CABLES2 Cdk5 and Abl enzyme substrate 2 737633,1580863 15489334,14637168,12477932,11955625,11780052,20056645 737633 81928 NM_031215,AL121832,CH471077,AI066606,BC003122,BC011196,BU166894,CA420818,CB960872,CR615670 NP_112492,CAI23283,EAW75364,EAW75365,EAW75366,AAH03122,Q9BTV7 Hs.301040 C20orf150|dJ908M14.2|ik3-2 CDK5 and ABL1 enzyme substrate 2|OTTHUMP00000031482|interactor with CDK3 2 protein-coding 731282 CABP1 calcium binding protein 1 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene was only detected in retina and brain. Study of the mouse homolog demonstrated that groups of cells expressing this protein are located in the center or inner border of the inner unclear layer of retina. Three alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq] 1580863 14570872,12477932,11865310,10625670,8889548,14685260,12032348,11108966,9920909,15980432,15140941,19008222,17960496,16470652,16147998,14702039 9478 NM_001033677,NM_031205,NM_004276,AC069234,CH471054,AF169148,AF169149,AK127203,AL533429,BC015006,BC030201,BM716422,BQ188859,CR602468,CR612944,CR619895 NP_001028849,NP_112482,NP_004267,EAW98209,EAW98210,EAW98211,AAF25782,AAF25783,AAH30201,Q9NZU7,ABM86439,ABW03794 Hs.458482 CALBRAIN|HCALB_BR OTTHUMP00000210620|calcium binding protein 5|calcium-binding protein 1|caldendrin protein-coding 1348224 CABP2 calcium binding protein 2 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The specific function of this gene is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 10625670,12477932,11415439,11108966 51475 NM_031204,NM_016366,AF170811,AP001184,CH471076,AF169154,BC018476 NP_112481,NP_057450,AAF26283,EAW74645,EAW74646,EAW74647,AAF25788,Q9NPB3,AAI52747 Hs.278984 calcium-binding protein 2 protein-coding 1345299 CABP3 calcium binding protein 3 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of the CABP5 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP5. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. [provided by RefSeq] 1580863 10625670,11785943 51476 AF170816,AF170817,AF170818,AF224511 AAF27810,AAF27811,Q9NZU6 protein-coding 1314493 CABP4 calcium binding protein 4 1580863 20157620,8889548,16960802,15452577,10625670,19074807,16554811,15489334,12477932,1316906,20801516 57010 BM665388,NG_021211,NM_145200,BC033167,AP003419,CH471076,AY039217 AAK83462,AAH33167,P57796,NP_660201,EAW74627,EAW74628,EAW74629,EAW74630 Hs.143036 CSNB2B calcium-binding protein 4 protein-coding 1317691 CABP5 calcium binding protein 5 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of CABP3 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP3. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. [provided by RefSeq] 1580863 10625670,15489334,12477932,11785943,8889548,11108966 56344 NM_019855,AC010330,AC010458,AF170812,AF170813,AF170814,AF170815,CH471177,AF169159,BC126133,BC126135,BQ185108 NP_062829,AAF25798,EAW52310,AAF25793,AAI26134,AAI26136,Q9NP86,ADR82830 Hs.117694 CABP3 Calcium-binding protein 3|calcium-binding protein 5 protein-coding 1348796 CABP7 calcium binding protein 7 737633 19338761,15489334,12477932,11785943,7566098 737633 164633 NM_182527,AC004882,CH471095,AA351919,BC051805,BX488512 NP_872333,EAW59834,EAW59835,AAH51805,Q86V35,ADR82654 Hs.643608 CALN2|MGC57793 calcium-binding protein 7|calneuron 2|calneuron II|calneuron-2 protein-coding 1349000 CABYR calcium binding tyrosine-(Y)-phosphorylation regulated To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Transcript variants of this gene encode multiple protein isoforms. An additional transcript and isoform has not been fully characterized. [provided by RefSeq] 1580863 17207965,17317841,16139264,15752768,15489334,12509440,12477932,11820818,11730911,9373149,8125298,7849610,20379614 26256 NM_153769,NM_153770,NM_153768,NM_138643,NM_138644,AC090772,CH471088,AF088868,AF295037,AF295038,NM_012189,AF295039,AF329634,AK225858,AK301889,AK313243,AY007205,BC011996,HM594164,HM594165,HM594166,HM594163,HM594167,HM594168 ADQ32700,NP_036321,NP_722452,NP_722453,NP_722454,NP_619584,NP_619585,EAX01174,EAX01175,EAX01176,EAX01177,EAX01178,EAX01179,AAC35373,AAG17889,AAG17891,AAL56051,BAG63320,BAG36054,AAG01891,AAH11996,O75952,AAG17890,ADK33596,ADK33597,ADK33598,ADK33599,ADK33600 Hs.511983 CABYRa|CABYRc|CABYRc/d|CBP86|CT88|FSP-2|FSP2|MGC9117 calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2)|calcium-binding protein 86|calcium-binding tyrosine phosphorylation-regulated protein|calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2)|calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2)|cancer/testis antigen 88|fibrousheathin 2|fibrousheathin II|fibrousheathin-2|testis-specific calcium-binding protein CBP86 protein-coding 1345908 CABYRP calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 266954 NG_002394,AC115282 CABYRP calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) pseudogene|calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2) pseudogene pseudo 1344745 CACD central areolar choroidal dystrophy 8733141,9733038 772 1605969 CACHD1 cache domain containing 1 14702039,12477932,12421765,10997877,20379614 57685 NM_020925,AC099678,AL355515,AL590405,CH471059,AB046793,AK022571,AK024256,AK131297,AK299361,AL833000,BC039301,BX537603,CX163220 NP_065976,CAI22137,CAH70309,EAX06551,BAB13399,BAB14105,BAB14860,BAG61356,CAH56312,AAH39301,CAD97793,Q5VU97 Hs.443891 KIAA1573|RP4-655E10.1 VWFA and cache domain-containing protein 1|cache domain-containing protein 1|von Willebrand factor type A and cache domain containing 1 protein-coding 735950 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq] 2311105,1358570,734669,1358446 20156848,8692999,11865310,12451115,16595610,8825650,19527141,19429006,19259763,19235102,19189122,19145126,19007941,18976783,18973067,18940563,18758887,18755274,18670797,18644040,18606230,18602318,18581134,18541804,18513263,18498393,18478327,18437043,18413478,18400034,18338196,18313928,18285829,18279427,18162541,18056581,17672918,17654512,17588611,17573560,17438119,17418573,17292920,17289272,17119788,17020933,16508934,16389595,16382099,16373336,14530926,12756131,12736095,12707077,12676347,12545428,12542511,12527722,12461694,12235360,12056940,12049805,11971066,11960817,11843866,11804332,11803518,11742003,11723274,11342703,11320173,11179022,11176968,11061267,10987655,10753886,10737800,10607897,10212211,10049321,9600739,9442082,9311738,9303303,9302278,9259275,9238069,9009193,8988170,8898206,8525433,8220421,7823133,1370480,15953418,19336002,19624685,20484531,20043227,16325861,16306128,16186543,16043807,15985579,15827025,15826995,15795222,15743764,15728831,15710862,15545010,15504897,15504896,15474358,15452324,15448138,15362569,15293273,15254089,15240985,15223312,15210532,15057824,15026782,15026160,15003170,14756671,14681882,14592859,14570872,14534930,19242091,19438926,19486177,19520699,19586927,19633872,19811514,19864665,20069235,20071244,20080591,20129625,20379614,20837964,20091047 2311105,1358570,734669,1358446 773 NM_001127221,NM_001127222,NG_011569,AC005305,AC005513,AC008540,AC011446,AC022436,AC026805,AC093062,AC098781,AC124224,AF144098,AF152345,CH471106,AB035726,AB035727,AF004883,AF004884,AF100774,BQ340521,FJ040507,S76537,U06702,U79663,U79664,U79665,U79666,U79667,U79668,X99897,NM_000068,NM_001174080,NM_023035 NP_001120693,NP_001120694,AAC26839,AAF03935,AAD38386,EAW84361,EAW84362,EAW84363,EAW84364,EAW84365,EAW84366,BAA94765,BAA94766,AAB61612,AAB61613,AAC77460,ACH89974,AAB33068,AAB49674,AAB49675,AAB49676,AAB64179,AAB49677,AAB49678,CAA68172,O00555,O95387,Q9NS88,Q9NS89,Q9UHM9,Q9UN69,NP_000059,NP_001167551,NP_075461 Hs.501632 APCA|CACNL1A4|CAV2.1|EA2|FHM|HPCA|MHP|MHP1|SCA6 BI|brain calcium channel 1|brain calcium channel I|calcium channel, L type, alpha-1 polypeptide|calcium channel, voltage-dependent, alpha 1a subunit|voltage-dependent P/Q-type calcium channel subunit alpha-1A|voltage-gated calcium channel subunit alpha Cav2.1 protein-coding 1347795 CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit Voltage-dependent Ca(2+) channels are multisubunit complexes found in the membrane of many excitable cells that regulate calcium entry (see MIM 601011). N-type calcium channels, which control neurotransmitter release from neurons, are dihydropyridine-insensitive and omega-conotoxin-sensitive. The alpha-1 subunit forms the pore through which calcium enters the cell, and is encoded by a family of at least 5 genes.[supplied by OMIM] 1580151,1626313,1626312,1580863 8750830,8684604,20379614,20489179,15728831,1321501,9030575,8825650,19065143,18958281,17081983,16857708,16627564,16382099,15953418,15607937,15166237,14684825,14602720,12665800,12477932,12435810,12414690,12177192,12161429,12018859,11438518,11395521,11353727,11130074,10455105,21057379 1580151,1626313,1626312 774 NM_000718,AF237470,AF238295,AF238296,AF245659,AF245660,AF302780,AF302782,AL591424,AL772363,CH471090,CS184988,U76666,AB209467,AY429522,AY429523,BC033060,M94172,M94173 NP_000709,AAG13642,AAG13644,AAG13650,AAG13645,AAG13648,AAG13646,AAG13647,AAG13643,AAG14396,AAG14397,AAG14398,CAI40685,CAI40686,CAI40687,CAI40688,CAI40691,CAI17141,CAI17142,CAI17143,CAI17144,EAW88415,EAW88416,EAW88417,EAW88418,CAJ41866,AAC51138,BAD92704,AAA51897,AAA51898,Q00975,Q59FJ3,Q9HAT3,Q9HAT4,Q9HAT5,Q9HAT6,Q9HBG1,Q9HBG2,Q9HBG3,Q9HBH2,Q9HBH4,Q9HBI3,Q9HBI4 Hs.495522 BIII|CACNL1A5|CACNN|Cav2.2 Cav2.2 voltage-gated Ca2+ channel|OTTHUMP00000022714|OTTHUMP00000022715|OTTHUMP00000022716|OTTHUMP00000022718|brain calcium channel III|calcium channel alpha12.2 subunit|calcium channel, L type, alpha-1 polypeptide|calcium channel, N type|calcium channel, voltage-dependent, L type, alpha 1B subunit|calcium channel, voltage-dependent, alpha 1B subunit, N type|calcium channel, voltage-dependent, l type, alpha 1b subunit|voltage-dependent N-type calcium channel subunit alpha-1B|voltage-gated calcium channel alpha subunit Cav2.2|voltage-gated calcium channel subunit alpha Cav2.2 protein-coding 10268 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. [provided by RefSeq] 2311105,1580173,1580863 18317468,18250309,18174367,17950697,17942635,17916557,17593353,17224476,17173968,17071743,16820363,16648185,16610939,16382099,16319140,16299511,16285952,16157588,16020652,15980432,15980164,15916803,15863612,15845581,15749491,15671035,15583004,15454078,15339916,15299022,15141227,15140941,8392192,19095005,11206130,14140941,12130699,19492014,19388002,19279214,19265197,19225208,19205682,19106618,19065143,18927079,18711365,18675806,18618671,18603601,18596041,18536931,18535201,18535142,18359894,14981074,14722109,14702039,12962146,12832067,12593842,12477932,12176756,12166659,12163037,11741969,11576544,11461190,11438518,10022083,9668070,9607315,9247274,9110174,9087614,9013606,8619474,8612821,8099908,7959794,7737988,2173707,1653763,1650913,1335957,1330882,1316612,15170217,15728831,15953418,18836301,21042317,21057379,21078228,20636642,20719785,20371314,11438519,19215628,19351867,19520970,19620129,19621016,19625771,19687230,19717733,19781653,19952088,20031608,20066046,20098439,20169111,20201926,20226536,20351715,20379614,20424473,8664319,20953164,21098446,19913121,19916019,20628086,20638048,20677014,20679588,20723887,20817017,20819988 2311105 775 Z34821,Z34822,Z74996,L04568,M61130,M91370,M92269,Z26257,Z26308,AB209016,AF070589,AF465484,AJ224873,AJ536834,AJ537510,AK092125,AK302698,AK308652,AK309111,AY129012,AY562395,AY562396,AY830711,AY830712,AY830713,BC093695,BC146846,CR605077,L29529,L29534,L29536,M57971,M57972,Z26294,Z26295,Z34809,Z34810,Z34811,Z34812,Z34813,Z34814,Z34815,Z34816,Z34817,Z34818,Z34819,Z34820,NM_199460,NM_001129827,NM_001129832,NM_001129831,NM_001129833,NM_001129842,NM_001129829,NM_001129834,NM_000719,NM_001129837,NM_001129839,NM_001129836,NM_001129841,NM_001129835,NM_001129830,NM_001129843,NM_001129838,NM_001129846,NM_001129844,NG_008801,AC005293,AC005342,AC005344,AC005414,AC005866,AC006051,AC007618,CH471116,NM_001129840,NM_001167623,NM_001167624,NM_001167625 CAA84352,CAA84353,CAA99284,O95234,Q13936,Q4G0H8,Q59GU3,Q5V9X8,Q5V9X9,Q6YL47,Q86XX0,Q86XX1,EAW88902,EAW88903,EAW88904,EAW88905,EAW88906,EAW88907,EAW88908,EAW88909,EAW88910,AAA02500,AAA58409,AAA74590,AAA17030,BAD92253,AAC28649,AAM70049,CAA12174,CAD61168,CAD61169,BAH13781,AAM98755,AAT67986,AAT67987,AAX37354,AAX37355,AAX37356,AAH93695,AAI46847,AAA51899,AAA51900,AAA51901,AAA62832,AAB59461,CAA81218,CAA81219,CAA84340,CAA84341,CAA84342,CAA84343,CAA84344,CAA84345,CAA84346,CAA84347,CAA84348,CAA84349,CAA84350,CAA84351,EAW88901,NP_001123312,NP_955630,NP_001123299,NP_001123304,NP_001123303,NP_001123305,NP_001123314,NP_001123301,NP_001123306,NP_000710,NP_001123309,NP_001123311,NP_001123308,NP_001123313,NP_001123307,NP_001123302,NP_001123315,NP_001123310,NP_001123318,NP_001123316,EAW88895,EAW88896,EAW88897,EAW88898,EAW88899,EAW88900,NP_001161095,NP_001161096,NP_001161097 Hs.118262 CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|MGC120730|TS DHPR, alpha-1 subunit|OTTHUMP00000196730|OTTHUMP00000196731|OTTHUMP00000196732|OTTHUMP00000196733|OTTHUMP00000196734|OTTHUMP00000196735|OTTHUMP00000196736|OTTHUMP00000196737|OTTHUMP00000196738|OTTHUMP00000196739|OTTHUMP00000196740|OTTHUMP00000196741|OTTHUMP00000196742|OTTHUMP00000196744|OTTHUMP00000196746|OTTHUMP00000196747|OTTHUMP00000196748|OTTHUMP00000196749|OTTHUMP00000196750|OTTHUMP00000196751|calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle|calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle|calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit|calcium channel, voltage-dependent, alpha 1c subunit|voltage-dependent L-type calcium channel subunit alpha-1C|voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*|voltage-gated calcium channel alpha subunit Cav1.2|voltage-gated calcium channel subunit alpha Cav1.2 protein-coding 735457 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 2311105,704382,1300292,1580863 19351867,19885716,20379614,20424473,11160515,19339512,19240061,19225208,19004828,18482979,17081983,16973824,16921373,15939813,14981074,11581302,11441182,11424233,11292657,11285265,10468580,8738134,7557998,1849233,1664412,1324226,1309948,1309651,21076409,20363327 2311105,704382,1300292 776 NM_001128840,NM_001128839,NM_000720,AC005905,AC012467,AC024149,AC132810,CH471055,AF055575,D43747,AB209171,AK294397,AK294585,AW008794,EU363339,M76558,M83566 NP_001122312,NP_001122311,NP_000711,AAA35629,Q01668,Q59GD8,Q71UT1,AAD08651,EAW65286,EAW65287,EAW65288,EAW65289,EAW65290,EAW65291,EAW65292,EAW65293,EAW65294,EAW65295,BAA07804,BAD92408,BAH11755,BAG57776,ABY66526,AAA58402 Hs.476358 CACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3 OTTHUMP00000212733|calcium channel, L type, alpha-1 polypeptide, isoform 2|calcium channel, neuroendocrine/brain-type, alpha 1 subunit|voltage-dependent L-type calcium channel subunit alpha-1D|voltage-gated calcium channel alpha 1 subunit|voltage-gated calcium channel alpha subunit Cav1.3|voltage-gated calcium channel subunit alpha Cav1.3 protein-coding 733702 CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. [provided by RefSeq] 1299845,734670,1580863 20026913,8071363,8825650,18676988,18037383,17934712,17727731,17720895,17660294,17189400,17050807,16855219,16382099,15845089,15258581,14702039,12706458,12401453,12202369,11903132,11719851,11179973,11159396,9799129,9776767,9753159,9656471,8388125,8358434,7536609,16543726,20379614,20424473 1299845,734670 777 NM_000721,AF152379,AF223391,AJ276502,AL160059,AL161734,AL356500,AL359270,AL590998,CH471067,AA349993,AB209499,AK096563,AK309070,AW452628,BE504178,BI914369,CD580303,L27745,L29384,L29385,R11722 NP_000712,AAD38389,AAF37687,AAF37688,CAB81554,CAI17081,CAI17082,CAI17083,CAH72675,CAH72676,CAH72677,CAI14653,CAI14654,CAI14655,CAI22327,CAI22328,CAI22329,EAW91103,EAW91104,EAW91105,EAW91106,EAW91107,EAW91108,EAW91109,EAW91110,BAD92736,AAA72125,AAA59204,AAA59205,Q15878,Q59FG1,Q9NY05,Q9NYZ5,Q9NYZ6,Q9UN68,AAI72376 Hs.437444 BII|CACH6|CACNL1A6|Cav2.3 OTTHUMP00000035416|OTTHUMP00000035417|OTTHUMP00000035418|brain calcium channel II|calcium channel, L type, alpha-1 polypeptide, isoform 6|calcium channel, R type, alpha-1 polypeptide, isoform 6|calcium channel, voltage-dependent, alpha 1E subunit|calcium channel, voltage-dependent, l type, alpha 1e subunit|voltage-dependent R-type calcium channel subunit alpha-1E|voltage-dependent calcium channel alpha 1E subunit|voltage-gated calcium channel alpha 1E subunit|voltage-gated calcium channel alpha subunit Cav2.3|voltage-gated calcium channel subunit alpha Cav2.3 protein-coding 731992 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). [provided by RefSeq] 734671,1580863 15897456,17474147,7571473,18206315,17949918,10873387,9662400,9662399,9344658,8933343,8889549,7633454,15452577,12954628,12860808,12853422,12807962,12719097,12552565,12187427,12111638,11281458,10900517,20398921,17651254,14973233,17525176,16960802,16505158,16476079,16382099,16085774,15807819,15772651,15761389,15634789,20801516 734671 778 NM_005183,NG_009095,AF235097,AJ006216,CH471224,U93305,AA019975,AF067227,AF201304,AJ224874,AF196779 NP_005174,CAA06916,EAW50677,EAW50678,EAW50679,EAW50680,EAW50681,EAW50682,EAW50683,AAB92359,AAD03587,AAF15290,CAA12175,O60840,O95226 Hs.632799 AIED|COD3|COD4|CORDX|CORDX3|CSNB2|CSNB2A|CSNBX2|Cav1.4|JM8|JMC8|OA2 Cav1.4alpha1|OTTHUMP00000024299|calcium channel, voltage-dependent, alpha 1f subunit|voltage-dependent L-type calcium channel subunit alpha-1F|voltage-gated calcium channel subunit alpha Cav1.4 protein-coding 68989 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-activated calcium channels can be distinguished based on their voltage-dependence, deactivation, and single-channel conductance. See MIM 601011. Low-voltage-activated calcium channels are referred to as 'T' type because their currents are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing.[supplied by OMIM] 68747,68748,68746,1580863,2316207 10548410,10493502,9495342,19211869,18801335,18663132,18663131,18591418,17591929,17446221,17397049,16713569,16671074,16382099,15774856,15465033,12752779,12676336,12477932,12168954,11927664,10692398,10648811,10574461,20416077,19455149,20435690 68747,68748,68746,2316207 8913 NM_198380,NM_198378,NM_018896,NM_198385,NM_198384,NM_198386,NM_198379,NM_198387,NM_198376,NM_198377,NM_198383,NM_198382,NM_198388,NM_198397,AC004590,AC021491,CH471109,AB012043,AB032949,AF029228,NM_198396,AF029229,AF124351,AF126965,AF126966,AF134985,AF134986,AF190860,AF227744,AF227745,AF227746,AF227747,AF227749,AF227750,AF227751,AK296513,BC110995,DQ494449,DQ494450,DQ494451,DQ494452,DQ494453,DQ494454,DQ494455,DQ494456,DQ494457,AF227748,DQ494458,DQ494459,DQ494460,DQ494461,DQ494462,DQ494463,DQ494464,DQ494465,DQ494466,DQ494467,DQ494468,DQ494469,DQ494470,DQ494471,DQ494472,DQ494473,DQ494474,DQ494475,DQ494476,DQ494477,DQ494478,DQ494479,FB571393,FB571395,FB571397,FB571399,FB571401,FB571403,FB571405,FB571407,FB571409,FB571411,FB571413,FB571415,FB571417,FB571419,FB571421 NP_938406,NP_938194,NP_938192,NP_061496,NP_938199,NP_938198,NP_938200,NP_938193,NP_938201,NP_938190,NP_938191,NP_938197,NP_938196,NP_938202,NP_938407,EAW94596,EAW94597,EAW94598,EAW94599,EAW94600,EAW94601,BAA36409,BAA86437,AAD12732,AAD34352,AAD29400,AAD29401,AAF19346,AAF19347,AAF35287,AAF37689,AAF37690,AAF37691,AAD12731,AAF37692,AAF37693,AAF37694,AAF37695,AAF37696,BAG59145,AAI10996,ABF69900,ABF69901,ABF69902,ABF69903,ABF69904,ABF69905,ABF69906,ABF69907,ABF69909,ABF69910,ABF69911,ABF69912,ABF69913,ABF69914,ABF69915,ABF69916,ABF69917,ABF69918,ABF69919,ABF69920,ABF69921,ABF69922,ABF69923,ABF69924,ABF69925,ABF69926,ABF69927,ABF69928,ABF69929,ABF69930,O43497,Q19QY8,Q19QY9,Q19QZ0,Q19QZ1,Q19QZ2,Q19QZ3,Q19QZ4,Q19QZ5,Q19QZ6,Q19QZ7,Q19QZ8,Q19QZ9,Q19R00,Q19R01,Q19R02,Q19R03,Q19R04,Q19R05,Q19R06,Q19R07,Q19R08,Q19R09,Q19R10,Q19R11,Q19R12,Q19R13,ABF69908,Q19R15,Q19R16,Q19R17,Q19R18,Q2TAC4,CAR95114,CAR95115,CAR95116,CAR95117,CAR95118,CAR95119,CAR95120,CAR95121,CAR95122,CAR95123,CAR95124,CAR95125,CAR95126,CAR95127,CAR95128 Hs.591169 Ca(V)T.1|Cav3.1|MGC117234|NBR13 OTTHUMP00000221509|OTTHUMP00000221510|OTTHUMP00000221511|OTTHUMP00000221512|OTTHUMP00000221513|OTTHUMP00000221515|OTTHUMP00000221516|OTTHUMP00000221517|OTTHUMP00000221518|OTTHUMP00000221561|OTTHUMP00000221563|OTTHUMP00000221564|OTTHUMP00000221565|OTTHUMP00000221566|OTTHUMP00000221567|OTTHUMP00000221568|OTTHUMP00000221570|OTTHUMP00000221572|OTTHUMP00000221573|OTTHUMP00000221575|OTTHUMP00000221590|OTTHUMP00000221592|OTTHUMP00000221593|OTTHUMP00000221594|calcium channel, voltage-dependent, T type, alpha-1G subunit|calcium channel, voltage-dependent, alpha 1G subunit|cav3.1c|voltage-dependent T-type calcium channel subunit alpha-1G|voltage-dependent calcium channel alpha 1G subunit, isoform 11|voltage-gated calcium channel subunit alpha Cav3.1 protein-coding 68993 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq] 1358447,1580863 10861024,9670923,19641113,19144837,19131331,18708747,18591418,18309285,18230611,18218623,17696120,17215393,17156077,17081983,16973746,16905256,16754686,16565161,16504478,16475676,16443692,16382099,16377633,16303743,16301824,16133267,15852375,15616553,15498803,14729682,14602827,14529577,12891677,12853961,12808460,11927664,11799114,11751928,11157797,10414291,9930755,9110174,8619474,14631046,15833171,19609347,19903827,19948975,20201926,19336002 1358447 8912 AK074965,BM554380,CA335096,CD243650,DQ363526,DQ363527,DQ363528,DQ363529,NM_001005407,NG_012647,AC120498,AE006466,AF223560,AF223561,AF223562,AF223563,AL031703,AL031715,CH471112,AF051946,AF070604,AF073931,AJ420779,NM_021098 BAG52041,ABC88009,ABC88010,ABC88011,ABC88012,O95180,Q9NYY6,Q9NYY7,NP_066921,NP_001005407,AAK61268,AAF60160,AAF60161,AAF60162,AAF60163,CAC42094,EAW85683,EAW85684,AAC67239,AAD17668,CAD12646 Hs.459642 CACNA1HB|Cav3.2|ECA6|EIG6|FLJ90484 calcium channel, voltage-dependent, T type, alpha 1Hb subunit|low-voltage-activated calcium channel alpha1 3.2 subunit|low-voltage-activated calcium channel alpha13.2 subunit|voltage dependent t-type calcium channel alpha-1H subunit|voltage-dependent T-type calcium channel subunit alpha-1H|voltage-gated calcium channel alpha subunit Cav3.2|voltage-gated calcium channel alpha subunit CavT.2|voltage-gated calcium channel subunit alpha Cav3.2 protein-coding 68996 CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit Voltage-dependent calcium channels control the rapid entry of Ca(2+) into a variety of cell types and are therefore involved in both electrical and cellular signaling. T-type channels, such as CACNA1I, are activated by small membrane depolarizations and can generate burst firing and pacemaker activity.[supplied by OMIM] 1580863 16740636,10454147,18591418,17535809,16939858,16382099,15254077,12477932,12080115,11927664,10749850,10591208,10574461 8911 NM_021096,NM_001003406,AL008716,AL022312,AL022319,CH471095,AB032946,AF129133,AF142567,AF211189,AF393329,BC042972,N52765 NP_066919,NP_001003406,CAI17903,CAI19180,CAQ08289,CAQ08290,CAQ08291,CAI19662,EAW60345,EAW60346,EAW60347,EAW60348,EAW60349,EAW60350,EAW60351,BAA86434,AAD45251,AAF25722,AAF44626,AAM67414,Q9P0X4,CAQ09517,CAQ09518,CAQ09682,CAQ09683 Hs.125116 Cav3.3|KIAA1120 OTTHUMP00000199124|OTTHUMP00000199125|ca(v)3.3|calcium channel, voltage-dependent, alpha 1I subunit|voltage-dependent T-type calcium channel subunit alpha-1I|voltage-gated calcium channel subunit alpha Cav3.3 protein-coding 736857 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq] 1300372,1300373,1580863 9852570,17418573,11206130,17204937,19191329,19187971,19118277,18229654,17587224,16382099,15726306,15716625,15711422,15072700,14660679,12636044,12496092,9668070,9199552,9175745,8838325,8592342,8188298,8118099,8004673,7987325,7916735,7897626,7847370,7713519,3037387,2844809,1322891,12477932,19134469,19779499,19825159,20379614,20424473 1300372,1300373 779 NM_000069,NG_009816,AL139159,AL358473,CH471067,U30707,BC133671,L33798,U09784,U14413,U18986 Q12966,Q13062,Q13698,NP_000060,CAI23206,CAI23207,CAI12386,CAI12387,EAW91333,EAW91334,EAW91335,AAB37235,AAI33672,AAA51902,AAA20531,AAC50397,AAC50398 Hs.1294 CACNL1A3|CCHL1A3|Cav1.1|HOKPP|HOKPP1|MHS5|TTPP1|hypoPP calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis)|calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle|dihydropyridine receptor|dihydropyridine-sensitive L-type calcium channel alpha-1 subunit|voltage-dependent L-type calcium channel subunit alpha-1S|voltage-gated calcium channel subunit alpha Cav1.1 protein-coding 731942 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 20708005,11160515,19240061,19106618,19001023,17438119,17224476,16335952,14602720,12853948,12477932,10534405,9847074,8188232,8107964,7951247,2458626,1309651,20379614,20817017 781 AC004989,AC005159,AC006145,AC008283,AF083854,CH236949,CH471091,Z28599,AK299838,AL707206,BC051339,BC117468,BC117470,BG055272,BI545104,BU501177,M76559,NM_000722,NG_009358,AC004892,AC004970 AAC78619,AAD20938,AAF19234,AAF03259,EAW76990,BAH13144,AAI17469,AAI17471,AAA51903,O95026,P54289,Q9UDL7,Q9UDQ3,Q9UDU5,Q9UIU0,NP_000713,AAD51454 Hs.282151 CACNA2|CACNL2A|CCHL2A calcium channel, L type, alpha 2 polypeptide|calcium channel, voltage-dependent, alpha2/delta subunit 1|dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit|voltage-dependent calcium channel subunit alpha-2/delta-1|voltage-gated calcium channel subunit alpha-2/delta-1 protein-coding 737609 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 17135419,15331424,12555074,11851383,11292331,11085536,10766861,10762351,9628581,12477932,16344560 9254 NM_001005505,AL450422,CH471055,Z84492,AB011130,AF040709,AF042792,AF042793,AJ251367,AJ251368,NM_006030,AW451435,AW952467,BC152438,CR615217,AK074820,AK310138,DA760583,NM_001174051 NP_006021,NP_001005505,EAW65118,EAW65119,EAW65120,EAW65121,BAA25484,AAC70914,AAB96913,AAB96914,CAB86192,CAB86193,AAI52439,Q9NY47,NP_001167522 Hs.476273,Hs.674666 CACNA2D|KIAA0558|LUAC11.1 OTTHUMP00000210932|OTTHUMP00000210933|OTTHUMP00000212539|alpha 2 delta calcium channel subunit|calcium channel, voltage dependent, alpha2/delta subunit 2|gene 26|voltage-dependent calcium channel subunit alpha-2/delta-2|voltage-gated calcium channel subunit alpha-2/delta-2 protein-coding 1349571 CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 19240061,18588891,18519826,17937436,12477932,21074052,12181424,11329013,11245980,10737800,20379614 55799 AC133010,AC137673,AC138059,CH471055,AF516696,AJ272213,AJ272268,AK299718,AK307449,AW905454,BC137502,BC137505,BE702896,BE768691,BG206136,BG213431,BI753834,NM_018398,AC092057,AC092797,AC104298,AC109581,AC109584,AC115282 EAW65303,EAW65304,AAN06673,CAB75878,CAB75962,BAG61618,AAI37503,AAI37506,Q8IZS8,NP_060868 Hs.656687 HSA272268 OTTHUMP00000213118|OTTHUMP00000213119|calcium channel alpha2-delta3 subunit|calcium channel, voltage-dependent, alpha 2/delta 3 subunit|voltage-dependent calcium channel subunit alpha-2/delta-3|voltage-gated calcium channel subunit alpha-2/delta-3 protein-coding 1346782 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 20379614,17033974,12477932,12181424 93589 NG_012663,NM_172364,AC005342,AC005343,CH471116,AA001411,AF516695,AI160471,AK301234,AL137658,BC048288,BC150186,BI908421,BX457018,BX537436,BX537437,CA443847,CR603629 NP_758952,EAW88918,EAW88919,EAW88920,AAN06672,BAG62806,AAH48288,AAI50187,CAD97678,CAD97679,Q7Z3S7,ACE87500,ACE86813 Hs.13768 RCD4 voltage-dependent calcium channel subunit alpha-2/delta-4|voltage-gated calcium channel alpha(2)delta-4 subunit|voltage-gated calcium channel subunit alpha-2/delta-4 protein-coding 68552 CACNB1 calcium channel, voltage-dependent, beta 1 subunit The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq] 734675,1580863 1385409,17081983,16713569,14762176,14760703,14623965,12477932,10624822,10465427,10066897,8943043,8905728,8395940,8381767,7916667,1657644,1370480,1309651,19821165,21098446 734675 782 AK297643,AK300666,NM_199248,NM_199247,AC004408,CH471152,U86960,Z21725,Z21726,AA694045,AB054985,AB209176,AK127283,AK289729,AK312385,AY393857,BC037311,L06110,L06111,L06112,NM_000723,M76560,M92301,M92302,M92303 BAH12640,BAH13323,NP_000714,NP_954856,NP_954855,EAW60556,EAW60557,EAW60558,EAW60559,EAW60560,EAW60561,EAW60562,EAW60563,EAW60564,AAB58779,AAB58780,AAB58781,CAA79824,CAA79825,BAB21444,BAD92413,BAG54473,BAF82418,AAQ97605,AAH37311,AAA36167,AAA36168,AAA36169,AAA51894,AAA35631,AAA35632,AAA35633,Q02641,Q59GD3,Q6TME4,ABM82614,ABW03409 Hs.635 CAB1|CACNLB1|CCHLB1|MGC41896 calcium channel voltage-dependent subunit beta 1|calcium channel, L type, beta 1 polypeptide|dihydropyridine-sensitive L-type, calcium channel beta-1 subunit|voltage-dependent L-type calcium channel subunit beta-1 protein-coding 732576 CACNB2 calcium channel, voltage-dependent, beta 2 subunit 734673 20025708,9254841,8494331,9594024,19430479,19241460,19106618,18676988,18519826,18464913,17224476,16344560,15339916,14762176,14702039,14623965,12719232,12042350,10623591,10567342,10465427,10441130,10066897,9757060,9461395,9252229,8889549,8395157,8107964,1309651,12477932,16385451,17525370,19197348,19358333,20201926,20379614,20386566,20414254,20479155,20677014,20817017,21045733 734673 783 AAB27916 NM_201596,NM_201593,NM_201597,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570,AL139814,AL162054,AL353603,AL360231,AL390783,AL450364,AL450384,AY027898,CH471072,AB208917,AF137376,AF137377,AF285239,AF423189,AF423190,AF423191,AF423192,AF465485,AK021994,AK022426,AK128769,AK293837,AK293937,AK295113,AK296471,AK299873,AK307526,AK307800,AK310943,AK311694,AL119895,AL599294,AL600557,AY393858,AY393859,AY393860,AY393861,AY393862,AY393863,AY675091,AY675092,BC136409,BM312516,DB235418,DC307859,S60415,U95019,DC352526,NG_016195,NM_001167945 NP_963890,NP_963887,NP_963891,NP_963865,NP_963866,NP_000715,NP_963884,NP_963864,CAH71349,CAH71350,CAH71351,CAH71352,CAH71353,CAO03603,CAO03604,CAO03605,CAO03606,CAH70125,CAH70126,CAH70065,CAH70066,CAO03475,CAI14731,CAI14732,CAI14733,CAI14734,CAI14735,CAO03634,CAO03635,CAO03636,CAO03637,CAH73206,CAH73207,CAH73208,CAH73209,CAH73210,AAK16994,EAW86194,EAW86195,EAW86196,EAW86197,BAD92154,AAD33729,AAD33730,AAG01473,AAL16948,AAL16949,AAL16950,AAL16951,AAL73495,BAH11608,BAH11631,BAH11979,BAH12366,BAH13158,AAQ97606,AAQ97607,AAQ97608,AAQ97609,AAQ97610,AAQ97611,AAV49501,AAV49502,AAI36410,AAB51370,AAB53332,AAB27916,Q08289,Q59H42,Q5QJ99,Q5QJA0,Q5UM67,Q5UM68,Q5VVH1,Q6TME0,Q6TME1,Q6TME2,Q6TME3,EAW86193,NP_001161417 Hs.59093 CACNLB2|CAVB2|FLJ23743|MYSB CAB2|calcium channel voltage-dependent subunit beta 2|lambert-Eaton myasthenic syndrome antigen B|myasthenic (Lambert-Eaton) syndrome antigen B|voltage-dependent L-type calcium channel subunit beta-2 protein-coding 735859 CACNB3 calcium channel, voltage-dependent, beta 3 subunit 1580863 11160515,8825650,16525042,15489334,15170217,14702039,12477932,12181424,12161429,12042350,8621722,8617257,8494331,8119293,7557998,19767875,19807924,19917615 784 AK297639,AK304537,AK316323,NM_000725,AC117498,CH471111,D43704,AK122911,AK289709,BC041811,BI667991,CR604630,CR624564,L27584,U07139,X76555,X76556 BAH12637,BAH14209,BAH14694,NP_000716,EAW58008,EAW58009,BAA07803,BAF82398,AAH41811,AAA19799,AAA95958,CAA54055,CAA54056,P54284 Hs.250712 CACNLB3 CAB3|calcium channel voltage-dependent subunit beta 3|voltage-dependent L-type calcium channel subunit beta-3 protein-coding 68558 CACNB4 calcium channel, voltage-dependent, beta 4 subunit This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 734674,1580863 16525042,11880487,8825650,16385006,18755274,18712068,18446307,17618603,16866717,16344560,15489334,15342556,15170217,14623965,12477932,10762541,10212211,9757060,9628818,9530629,9442082,9254841,9254840,9252229,16169070,19807924,20200978 734674 785 NM_001005746,NM_001005747,NM_001145798,AC068547,AC079790,AC097448,AF216867,CH471058,AB302276,AF038852,AF075047,AK290049,AK291378,NM_000726,HQ214056,AK294398,AK316045,AL700210,AY054985,BC075049,BP229182,BP360802,BX279713,BX484858,BX648679,DA782833,T23939,U95020,NG_012641 NP_000717,NP_001005746,NP_001005747,NP_001139270,AAY14759,AAY14711,AAX82014,AAF61674,EAX11493,EAX11494,BAF73808,AAC24206,BAF82738,ADP09414,BAF84067,BAG57651,BAH14416,AAL14351,AAH75049,AAB53333,O00305,Q53S65,Q580I4,Q9NZA2 Hs.120725 CAB4|CACNLB4|EA5|EIG9|EJM|EJM4|EJM6 OTTHUMP00000207246|OTTHUMP00000207247|OTTHUMP00000207248|OTTHUMP00000207249|OTTHUMP00000209460|calcium channel voltage-dependent subunit beta 4|dihydropyridine-sensitive L-type, calcium channel beta-4 subunit|voltage-dependent L-type calcium channel subunit beta-4 protein-coding 732630 CACNG1 calcium channel, voltage-dependent, gamma subunit 1 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. [provided by RefSeq] 734675,1580863 16344560,17652770,8111396,9186513,8387489,15489334,12477932,11738816,11170751,10613843,8404045,8395940 734675 786 NM_000727,AC005544,CH471099,Z19587,Z19603,AF086300,AK313852,BC069493,BC113486,BC113492,L07738,DA898357 NP_000718,EAW89022,CAB62573,CAA79671,BAG36580,AAH69493,AAI13487,AAI13493,AAA51904,Q06432,ADR83392 Hs.147989 CACNLG L-type calcium channel gamma polypeptide|dihydropyridine-sensitive L-type skeletal muscle calcium channel gamma subunit|dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma|neuronal dihydropyridine-sensitive calcium channel gamma subunit|voltage-dependent calcium channel gamma-1 subunit protein-coding 731676 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This protein is similar to the mouse stargazin protein, mutations in which have been associated with absence seizures, also known as petit-mal or spike-wave seizures. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family. [provided by RefSeq] 1580863 10221464,19543281,19156168,18571626,18408563,17483093,16793768,16637659,15758178,15567474,15489334,15461802,15001777,14505496,12477932,12359873,11805122,11170751,11140673,10643919,10591208,20688780,18311135,19805317,14702039,16434481,17652770,18304745,20219255 10369 NM_006078,AL022313,AL031845,AL049749,CH471095,AF096322,BC069612,BC112297,BC112299,BE670632,BI919073,CR456414,AK123431 NP_006069,CAI19227,CAI17986,EAW60113,AAD22738,AAH69612,AAI12298,AAI12300,CAG30300,Q9Y698,CAK54405,CAK54704,ADR82940 Hs.670146,Hs.146766 FLJ41437|MGC138502|MGC138504 neuronal voltage-gated calcium channel gamma-2 subunit|stargazin|voltage-dependent calcium channel gamma-2 subunit protein-coding 736548 CACNG3 calcium channel, voltage-dependent, gamma subunit 3 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This protein is similar to the mouse stargazin protein, mutations in which have been associated with absence seizures, also known as petit-mal or spike-wave seizures. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family. This gene is a candidate gene for a familial infantile convulsive disorder with paroxysomal choreoathetosis. [provided by RefSeq] 1300374,1580863 17207965,17652770,18304745,20219255,10221464,17264864,15489334,14702039,14505496,12477932,11170751,10613843,10493829,14572453,18311135 1300374 10368 H04803,NM_006539,AC004125,CH471145,AF100346,AF114832,AF134640,AK055453,AK095553,AK315150,BC033741,BC037899,BC040005,CR623650 ADQ32452,NP_006530,AAC15246,EAW55793,EAW55794,AAD22739,AAP97231,AAF42975,BAG51520,BAG53082,BAG37598,AAH37899,AAH40005,O60359 Hs.7235 Cacng2 neuronal voltage-gated calcium channel gamma-3 subunit|voltage-dependent calcium channel gamma-3 subunit|voltage-gated calcium channel gamma subunit protein-coding 735495 CACNG4 calcium channel, voltage-dependent, gamma subunit 4 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. [provided by RefSeq] 1300374,1580863 10613843,15489334,14702039,14505496,12477932,11738816,11170751,17652770,18304745,19913121,20628086,18311135,20378664 1300374 27092 AK055232,AK315149,AL526464,AL713655,AL831834,BC004504,BC032765,BC034532,BF508806,NM_014405,AC005544,AC005988,AF142622,AF142623,AF142624,AF142625,CH471099,AF162692 AAF14538,BAG37597,CAD28464,AAH34532,Q8TCR4,Q9UBN1,ABM82741,ABM85926,NP_055220,AAF03090,EAW89020,EAW89021 Hs.514423,Hs.727589 MGC11138|MGC24983 neuronal voltage-gated calcium channel gamma-4 subunit|voltage-dependent calcium channel gamma-4 subunit protein-coding 734378 CACNG5 calcium channel, voltage-dependent, gamma subunit 5 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300374,1580863 10613843,15489334,12477932,11927536,11738816,11170751,17652770,21057379 1300374 27091 NM_145811,NM_014404,AC005988,AF142618,AF142619,AF142620,AF142621,CH471099,AF148220,AF361351,AF458898,AK290171,BC101607,BC101633 NP_665810,NP_055219,AAF03089,EAW89018,EAW89019,AAF00132,AAL50046,AAM00595,BAF82860,AAI01608,AAI01634,Q9UF02 Hs.278907 MGC126656|MGC126682 neuronal voltage-gated calcium channel gamma-5 subunit|voltage-dependent calcium channel gamma-5 subunit protein-coding 735845 CACNG6 calcium channel, voltage-dependent, gamma subunit 6 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11170751,15489334,12477932,11738816,20860846,17652770 59285 NM_145814,NM_145815,NM_031897,AC008440,CH471135,AF288386,AF361352,BC021552 NP_665813,NP_665814,NP_114103,EAW72170,EAW72171,EAW72172,AAK20029,AAL50047,AAH21552,Q9BXT2,ABM86136,ABW03776,ABW03468 Hs.631560 neuronal voltage-gated calcium channel gamma-6 subunit|voltage-dependent calcium channel gamma-6 subunit protein-coding 732586 CACNG7 calcium channel, voltage-dependent, gamma subunit 7 The mouse protein stargazin is one of five subunits comprising neuronal voltage-gated calcium channels. This subunit, gamma, is thought to stabilize the calcium channel in an inactive (closed) state. Mutations in the gene encoding stargazin have been associated with absence seizures, also known as petit-mal or spike-wave seizures. The protein encoded by this gene is structurally similar to the mouse stargazin protein and is a member of the neuronal calcium channel gamma subunit protein family. However, it appears unlikely that the encoded protein is part of a functional calcium channel. Rather, it appears to inhibit the expression of a specific calcium channel subunit. [provided by RefSeq] 11170751,15489334,12477932,11927536,11738816,17652770 59284 NM_031896,AC008440,CH471135,AF288387,AF361353,AF458897,AL537399,BC069332,BC093869,BC113503,CR596328 NP_114102,EAW72162,EAW72163,EAW72164,EAW72165,EAW72166,AAK20030,AAL50048,AAM00594,AAH69332,AAH93869,AAI13504,P62955,ADR83128 Hs.631597 OTTHUMP00000067298|OTTHUMP00000067299|neuronal voltage-gated calcium channel gamma-7 subunit|voltage-dependent calcium channel gamma-7 subunit protein-coding 732322 CACNG8 calcium channel, voltage-dependent, gamma subunit 8 Voltage-dependent calcium channels couple membrane depolarization in a number of cellular processes. These activities are regulated by distinct channels composed of the pore-forming alpha-1 subunit and the modulatory beta, alpha-2/delta and gamma subunits. The protein encoded by this gene represents one of the gamma subunits. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is located in a cluster with two similar gamma subunit-encoding genes on chromosome 19. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq] 1580863 11170751,11738816,14702039,17652770,18304745,18311135 59283 NM_031895,AC008440,CH471135,AF234892,AF288388,AF361354,AK055160,AK131287 Q8WXS5,NP_114101,EAW72168,AAK15019,AAK20031,AAL50049,AAI57120,AAI72268 Hs.631595,Hs.633373 FLJ16240|FLJ30598 neuronal voltage-gated calcium channel gamma-8 subunit|voltage-dependent calcium channel gamma-8 subunit protein-coding 1346732 CACYBP calcyclin binding protein The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2326117,2326146 17353931,18765951,18443365,18171983,17400182,16085652,15489334,14702039,12895292,12477932,12421809,12042313,12006993,11927578,11389839,20562859,20878073,19615732,18029348 2326117,2326146 27101 NM_014412,AX058084,CH471067,Z99127,AF057356,AF275803,AF314752,AK093425,AK313278,AL035305,NM_001007214,AW300675,AY423723,BC005975,BC022352,BC067823,BC078151,BQ432793,CA951015,CR591438,CR591604,CR591846,CR601618,CR605339,CR607143,CR616181,CR622419,CR623770,CR626371,AK294042 NP_001007215,NP_055227,CAC22475,EAW90982,EAW90983,CAI18938,CAI18939,AAC21458,AAG23817,AAG34170,BAG52713,BAG36086,CAA22910,AAS00486,AAH05975,AAH22352,AAH67823,AAH78151,Q5R370,Q5R371,Q6NVY0,Q9HB71,BAG57394 Hs.508524 GIG5|MGC87971|PNAS-107|RP1-102G20.6|S100A6BP|SIP S100A6-binding protein|Siah-interacting protein (SIP)|calcyclin-binding protein|growth-inhibiting gene 5 protein|hCacyBP protein-coding 1348167 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. [provided by RefSeq] 2303530,2303540,2303532,1580863 8619816,15326225,15890648,9525610,18679823,17081983,16964243,16155188,15621215,15489334,15324660,14559996,14523024,12746293,12477932,12438317,11986331,11854437,4092695,2885743,2565865,1979741,20379614,20659789 2303530,2303540,2303532 790 NM_004341,AC013403,AC013413,CH471053,M38561,AK226105,BC014178,BC065510,BM927624,BU541191,BU558264,D78586 NP_004332,AAX93165,AAY24293,EAX00612,EAX00613,EAX00614,AAA51907,AAH14178,AAH65510,BAA11423,P27708,Q53SY7,Q53SZ4,Q96CK3 Hs.377010 CAD protein|CAD trifunctional protein|OTTHUMP00000201035|multifunctional protein CAD protein-coding 1322220 CADM1 cell adhesion molecule 1 2289088,2289091,2289095,2289096,2289089,2289090,2296030,1580863 12759359,15741237,19643986,19653122,19783739,19835597,19854157,19995226,20190806,20215110,20379614,20709797,12826663,15811952,19371721,19115211,18957284,18922876,18726896,18684968,18559103,18498117,18471525,18332875,18084322,17326163,17300670,17260099,17130425,17018592,16394014,16311015,16303743,16205641,16108829,16083501,15905536,15781451,15535129,15471956,15231748,15184878,14970278,14639656,14633730,14559819,13679854,12975309,12973698,12942568,12925956,12920246,12716461,12477932,12432281,12234973,12202822,12112527,12079507,12050160,11279526,10610705,19561085,20375924,20838585,19913121,20570966,20628086,20677014 2289088,2289091,2289095,2289096,2289089,2289090,2296030 23705 EF444987,HC206622,NM_001098517,AB017563,AP000462,AP000465,AP003174,AP003179,AP005020,CH471065,CS019549,AB094146,AF132811,AK075502,AK315245,AL080181,AY309502,AY358334,BC035930,BC047021,BC125102,BC125103,BI915307,BM309987,BX641042,BX647110,CA447277,CA777709,CR457157,CR612188,NM_014333,AK172730 ACA06003,CBI85480,NP_001091987,NP_055148,BAA75822,EAW67256,EAW67257,EAW67258,EAW67259,EAW67260,CAI58842,BAC66178,AAF69029,BAC11657,AAQ81866,AAQ88700,AAH47021,AAI25103,AAI25104,CAE46024,CAG33438,A0A4Z1,Q6MZK6,Q9BY67 Hs.370510 BL2|DKFZp686F1789|IGSF4|IGSF4A|MGC149785|MGC51880|NECL2|Necl-2|RA175|ST17|SYNCAM|TSLC1|sTSLC-1|sgIGSF|synCAM1 TSLC-1|TSLC1/Nectin-like 2/IGSF4|cell adhesion molecule 1|immunoglobulin superfamily member 4|immunoglobulin superfamily, member 4|immunoglobulin superfamily, member 4D variant 2|nectin-like 2|nectin-like protein 2|spermatogenic immunoglobulin superfamily|synaptic cell adhesion molecule|tumor suppressor in lung cancer 1 protein-coding 1313847 CADM2 cell adhesion molecule 2 Members of the large immunoglobulin (Ig) superfamily, such as IGSF4D, have diverse roles in extracellular recognition and intercellular adhesion (Biederer, 2006 [PubMed 16311015]).[supplied by OMIM] 16311015,12477932,8889548,19861958,20379614,14702039,20935630 253559 NM_153184,AC107024,AC117452,AC119726,AC119729,AC134650,CH471110,AF538973,AK295885,AL833049,AL834270,BC105999,BC112136,BC112138,BM674450,BX954585,AC018361,AC023600,AC107026,AC108700,AC132660,CQ893573,NM_001167674,NM_001167675,AK090787,AK094943,AK095545,BC040985 NP_694854,EAW68874,EAW68875,AAN16368,BAG58681,CAH56314,CAD38945,AAI06000,AAI12137,AAI12139,Q8N3J6,CAH68708,NP_001161146,NP_001161147 Hs.164578 IGSF4D|MGC104534|MGC138341|MGC138343|NECL3|Necl-3|synCAM2 cell adhesion molecule 2|immunoglobulin superfamily member 4D|immunoglobulin superfamily, member 4D|immunoglobulin superfamily, member 4d|nectin-like 3|nectin-like protein 3 protein-coding 1315991 CADM3 cell adhesion molecule 3 IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM] 12826663,19165527,19062177,18502984,18420026,17903293,16710414,16467305,15893517,15741237,15340161,14702039,14659875,12975309,12477932,11536053,11544254,18686605,19565570,20237496,20598232 57863 AF529206,AK001560,AK289541,AK308915,AY046418,AY358332,BC033819,CR601573,CR605082,NM_001127173,AL035403,AY663416,AY663417,AY663418,AY663419,AY663420,AY663421,AY663422,AY663423,AY663424,AY663425,NM_021189,AY663426,AY663427,AY663428,AY663429,AY663430,AY663431,AY663432,AY663433,CH471121,CS019555,CS019557,DQ181553,DQ181555,DQ181556,DQ181557,DQ181558,DQ181559,DQ181560,DQ181561,DQ181562,DQ181563,DQ181564,DQ181565,DQ181566,DQ181567,AF062733,AF363367,DQ181554,HC206628,HC206630 AAN75603,BAA91756,BAF82230,AAL02143,AAQ88698,AAH33819,Q8N126,ABM81774,ABM84928,NP_067012,NP_001120645,CAB56227,CAI17893,CAI17894,AAU47274,AAU47277,AAU47280,AAU47283,AAU47286,AAU47289,AAU47292,AAU47295,AAU47298,AAU47301,AAU47304,AAU47307,AAU47310,AAU47313,AAU47316,AAU47319,AAU47322,AAU47325,EAW52792,EAW52793,EAW52794,CAI58844,CAI58845,ABA10402,ABA10405,ABA10408,ABA10411,ABA10414,ABA10417,ABA10420,ABA10423,ABA10426,ABA10429,ABA10432,ABA10435,ABA10438,ABA10441,ABA10444,AAD17540,AAM60749,CBI85482,CBI85483 Hs.365689 BIgR|FLJ10698|IGSF4B|NECL1|Necl-1|TSLL1|synCAM3 OTTHUMP00000035291|TSLC1-like 1|TSLC1-like protein 1|brain immunoglobulin receptor|cell adhesion molecule 3|dendritic cell nectin-like protein 1 short isoform|immunoglobulin superfamily member 4B|immunoglobulin superfamily, member 4B|immunoglobulin superfamily, member 4b|nectin-like 1|nectin-like protein 1|synaptic cell adhesion molecule 3 protein-coding 1312331 CADM4 cell adhesion molecule 4 16261159,12477932,11536053,16825666,19565570,20200953 199731 NM_145296,AC005525,CH471126,AF363368,AK313028,BC068457,BC113963 NP_660339,AAC32740,EAW57212,EAW57213,EAW57214,AAM60750,BAG35862,AAI13964,Q8NFZ8,AAI40327,AAI41628 Hs.370984 IGSF4C|NECL4|Necl-4|TSLL2|synCAM4 TSLC1-like 2|TSLC1-like protein 2|cell adhesion molecule 4|immunoglobulin superfamily member 4C|immunoglobulin superfamily, member 4C|immunoglobulin superfamily, member 4c|nectin-like 4|nectin-like protein 4 protein-coding 1344966 CADPS Ca++-dependent secretion activator This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq] 1299540,1580863 16169070,20379614,15489334,14702039,14530279,12659812,12477932,12421765,12168954,10574461,9697858,9525942,9289490,1429734,1516133,15857609,19913121,20628086 1299540 8618 NM_003716,NM_183394,NM_183393,AC012519,AC092039,AC104161,AC124860,CH471055,AB032947,AF458662,AK000873,AK127506,AL833895,BC015754,BC029460,BC035100,BC072684,BC131731,BX647166,CR617234,R54020,U36448 NP_003707,NP_899631,NP_899630,EAW65405,EAW65406,EAW65407,EAW65408,EAW65409,EAW65410,EAW65411,BAA86435,AAM61861,CAD38751,AAH15754,AAH29460,AAH72684,AAI31732,AAA79701,Q9ULU8 Hs.654933 CADPS1|CAPS|CAPS1|KIAA1121 CAPS-1|Ca2+-dependent activator protein for secretion|Ca2+-dependent secretion activator|Ca2+-regulated cytoskeletal protein|calcium-dependent activator protein for secretion 1|calcium-dependent secretion activator 1 protein-coding 1342691 CADPS2 Ca++-dependent secretion activator 2 19690564,19058789,19008227,17380209,16344560,15857609,15489334,14702039,14530279,12659812,12477932,10997877,12421765,14715936,20171287,20379614 93664 NM_001009571,NM_017954,AC004594,AC004838,AC004986,AC006009,AC006463,AC015983,AC091438,CH236947,CH471070,AB046811,AF401638,AK000768,AK025672,AK054853,AK126518,AL833058,AY264289,BC054339,BC136601,BC144278,BC144279,BX110721,DA323097,DA118516,DA248542,NG_016215,NM_001167940 NP_001009571,NP_060424,EAL24339,EAW83571,EAW83572,EAW83573,EAW83574,EAW83575,EAW83576,BAB13417,AAN38707,BAA91372,BAB15210,BAG51434,BAG54341,CAH56288,AAP22132,AAH54339,AAI36602,AAI44279,AAI44280,Q86UW7,NP_001161412 Hs.726434 FLJ40851|KIAA1591 CAPS-2|Ca2+-dependent activator protein for secretion 2|OTTHUMP00000211454|OTTHUMP00000213045|calcium-dependent activator protein for secretion 2|calcium-dependent secretion activator 2 protein-coding 1604175 CAGE1 cancer antigen 1 17786288,17114284,16964403,15489334,14702039,14574404,12531476,12477932 285782 NM_205864,AL139095,CH471087,AF414185,AK097760,BC026188,BC026194,BC033545,NM_001170692,NM_001170693 NP_995586,CAI16449,CAI16451,EAW55206,EAW55207,EAW55208,EAW55209,AAO47239,BAC05162,AAH26194,AAH33545,Q8TC20,ABM83382,ABM86594,NP_001164163,NP_001164164,Q5TAM2 Hs.721486 CT95|CTAG3|FLJ40441|bA69L16.7 CT3|OTTHUMP00000015995|OTTHUMP00000221198|OTTHUMP00000221200|OTTHUMP00000221202|cancer-associated gene 1 protein|cancer/testis antigen 3|cancer/testis antigen 95|cancer/testis antigen gene 1 protein-coding 732083 CALB1 calbindin 1, 28kDa Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a 27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease are calbindin-depleted. [provided by RefSeq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s.65425 CALB D-28K|RTVL-H protein|calbindin|calbindin 1|calbindin 1, (28kD)|calbindin D28|vitamin D-dependent calcium-binding protein, avian-type protein-coding 731363 CALB2 calbindin 2 This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. Three alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq] 2315881,1580863 18992917,18801393,18604736,18297277,18269580,18223328,18214032,18189312,18091323,17535091,16415795,16289944,15950053,15489334,15285029,12542677,12477932,7643192,7607211,2618861,2001709,1906795,12359331,12064772,12051635,11642722,10942575,9452956,9373149,9370058,8125298,20576695,16270201,16344560,19450707,19550372,19648883,19854615,19998412,20138841,20175889,2071140,2612220,8889548,18029348,19435792,20509881 2315881 794 BM664507,DA060805,NM_001740,NM_007088,NR_027910,AC106736,CH471166,X56668,AK222495,AK222648,AK291096,BC015484,BX116479,X56667 NP_001731,NP_009019,EAW59240,EAW59241,EAW59242,EAW59243,EAW59244,CAA39992,BAD96215,BAD96368,BAF83785,AAH15484,CAA39991,P22676 Hs.106857 CAB29|CAL2|CR 29 kDa calbindin|calbindin 2|calbindin 2, (29kD, calretinin)|calbindin 2, 29kDa (calretinin)|calbindin D29K|calretinin protein-coding 730992 CALCA calcitonin-related polypeptide alpha Calcitonin is a peptide hormone synthesized by the parafollicular cells of the thyroid. It causes reduction in serum calcium, an effect opposite to that of parathyroid hormone (PTH; MIM 168450).[supplied by OMIM] 2314032,2314035,2314033,2314034,1580863,734677 11803621,11389975,11337490,11317366,11185743,10754330,9620797,8626685,8468047,8405394,6610687,6609312,6546550,6327497,6148938,6132180,5760861,3872459,3549095,3492492,3485540,3259294,3034287,3001670,2983422,2578663,2571128,2039456,2001366,1988044,1761559,1318039,15155765,17558349,17552872,17535749,17485015,17481780,17441790,17381353,17251226,17149558,17123735,17101796,17038199,17026622,16996466,16890288,16840549,16720289,16712930,16710309,16611736,16597919,16574742,16531504,16511394,16439457,16236878,15880427,15784626,15761654,15761041,15621724,15489334,15449935,15319367,15300632,15168342,14984255,14759258,14745805,14684361,14668209,14654229,14627864,14586070,12917321,12871824,12728303,12594852,12590613,12540523,12529288,12517415,12477932,12446725,12369791,12359227,12234182,12231407,12220731,12213903,12198603,12063634,8078488,8940110,17983652,2408883,9685362,17267696,1326102,10642343,10822112,17241109,16014619,11014233,16904178,3266556,18057382,19543500,19541585,19453261,19440016,19299090,19086053,19078972,18959118,18953261,18941191,18784182,18779512,18626012,18574663,18525431,18384419,18295515,18211417,18197882,18180663,18167349,17941085,17934713,17785463,17710246,17676478,17669797,18556380,20375903,17207965,20959432,15248232,15203218,16386179,18240029,18403669,19236383,19282810,19447044,19484659,19541012,19589278,19623026,19736013,19797133,19829249,19909213,20010500,20046084,20146868,20173430,20233513,12036966,20214413,18577758,19715516,19913121,20628086,20654748,19485922,20131075,20441469,20805714,20890583 2314032,2314035,2314033,2314034,734677 796 NM_001033952,NM_001741,A15601,AC090835,CH471064,DQ080435,M12666,M12667,M26094,M28637,X15943,BC069684,BC069704,BC069760,BC069778,NM_001033953,BC093753,BC101599,BC143562,BF447272,BF942024,K03512,K03513,M26095,M64486,X00356,X02330,X03662,CD612754,NG_015960,FB571423,FB571425,FB571427 NP_001029125,NP_001029124,NP_001732,CAA01243,EAW68468,EAW68469,AAY68212,AAA51913,AAA51914,AAA51912,AAA52012,CAA34070,AAH69684,AAH69704,AAH69760,AAH93753,AAI01600,AAI43563,AAA52011,AAA52124,AAA35501,AAA58403,CAA25103,CAA26189,CAA26190,CAA27299,P01258,P06881,ADQ32890,AAH69778,CAR95129,CAR95130,CAR95131 Hs.37058,Hs.723502 CALC1|CGRP|CGRP-I|CGRP1|CT|KC|MGC126648 OTTHUMP00000216319|OTTHUMP00000216321|alpha-type CGRP|calcitonin|calcitonin 1|calcitonin gene-related peptide 1|calcitonin gene-related peptide I|calcitonin/calcitonin-related polypeptide, alpha|calcitonin; calcitonin gene-related peptide 1|katacalcin protein-coding 1350431 CALCB calcitonin-related polypeptide beta 1580863 18577758,2985435,19192276,19086053,15761041,15489334,14702039,12477932,11803621,8468047,6091915,3493259,3492492,3492393,2322288,1318039,18240029,12036966 797 NM_000728,AC090744,CH471064,X04855,X04861,AI937230,AK054728,AK291188,BC008428,BC092468,BI668461,M28640,M28641,X02404 NP_000719,EAW68466,EAW68467,CAC05295,BAF83877,AAH92468,CAA26249,P10092 Hs.534305 CALC2|CGRP-II|CGRP2|FLJ30166 beta-CGRP|beta-type CGRP|calcitonin 2|calcitonin gene-related peptide 2|calcitonin gene-related peptide II|calcitonin-related polypeptide, beta protein-coding 731717 CALCOCO1 calcium binding and coiled-coil domain 1 19183483,19165232,16931570,16713569,16381901,16344560,16344550,16189514,15851553,15522220,15489336,14702039,12975309,12601173,12477932,11256614,11230166,11076863,10819331,9373149,8125298,16169070,20211142 57658 AY358397,AY563137,BC003177,BX538208,CD723746,CR533567,CR597517,CR598215,DB060684,NM_020898,NM_001143682,AC076968,CH471054,AB040969,AF370415,AK027881,AK092788,AK122773,AK222646,AK294424,AK296497,AK309199,AK315578,AL136895,AY211909,NR_026554 AAQ88763,AAT68474,AAH03177,CAD98068,CAG38598,Q7Z313,Q9P1Z2,CAL38131,NP_065949,NP_001137154,EAW96727,EAW96728,EAW96729,EAW96730,EAW96731,EAW96732,EAW96733,BAA96060,AAQ15251,BAB55428,BAG52609,BAG53720,BAG57671,BAG59131,CAB66829,AAO65163 Hs.156667 Cocoa|KIAA1536|PP13275|calphoglin calcium-binding and coiled-coil domain-containing protein 1|coiled-coil coactivator protein|coiled-coil leucine zipper coactivator 1|inorganic pyrophosphatase activator|kiaa1536 protein|sarcoma antigen NY-SAR-3 protein-coding 1601886 CALCOCO2 calcium binding and coiled-coil domain 2 The protein encoded by this gene is a subunit of nuclear domain 10 (ND10) bodies. ND10 bodies are nuclear domains appearing immunohistochemically as ten dots per nucleus. They are believed to be associated with the nuclear matrix on the basis of their resistance to nuclease digestion and salt extraction. ND10 proteins are removed from the nucleus by herpes simplex virus-1 infection and may have a role in viral life cycles. [provided by RefSeq] 12869526,7540613,9230084,17635994,16189514,15231748,14747555,12477932,12033769,9373149,8125298,17207965,18029348,19820708 10241 AK222666,AK223227,AK314796,BC004130,BC015893,BG773301,BU620013,CR456763,CR619500,U22897,NM_005831,AC068531,CH471109,AF085965,AK293137,AK293329,AK298177,AK303313,AK304024 BAD96386,BAD96947,BAG37327,AAH04130,AAH15893,CAG33044,AAA75297,Q13137,ADQ32739,NP_005822,EAW94707,EAW94708,BAG56685,BAG56845,BAG60448,BAG64382,BAG64939 Hs.514920 MGC17318|NDP52 OTTHUMP00000218345|OTTHUMP00000218347|OTTHUMP00000218348|OTTHUMP00000218351|antigen nuclear dot 52 kDa protein|calcium-binding and coiled-coil domain-containing protein 2|nuclear domain 10 protein 52|nuclear domain 10 protein NDP52|nuclear dot protein 52 protein-coding 1351311 CALCP calcitonin pseudogene 2898385,8468047 798 NG_001088,AC090835,X07964,X07965 CALC3 pseudo 731272 CALCR calcitonin receptor 704404,1580863 17714780,17709929,17487556,16713399,16412323,16363366,16280328,15966503,15929987,15860547,15856322,15670850,15490304,15489334,15279076,15155765,15086532,14614653,14583624,12905735,12853948,12771454,12690205,12565884,12531889,12517415,12477932,12375338,12016463,11858573,11560994,11464063,11353946,11298188,11136533,10865224,10570950,10385705,9817931,9571205,8143880,7961748,7789182,7733946,7720653,12383251,12397072,9694898,12147682,12821648,8078488,15563840,7619207,1331173,11250927,7588285,19453261,19255718,18676680,18622089,12036966,20961463,21033393,18240029,18923429,19170196,19445988,19447889,19625176,19692168,19903822,19946674,20424473,4961748,7769107,19913121,20654748 799 AJ831407,AK313996,AY430048,BC069611,BC075028,L00587,U26553,U26554,X69920,X82466,AJ831406,FN994993,FN994994,FN994995,FN994996,NM_001742,AC003078,AC005024,CH236949,CH471091,S77876,AB022177,AB022178,NG_013005,NM_001164737,NM_001164738 CAH40796,CAH40797,BAG36708,AAR06949,AAH69611,AAH75028,AAA35640,AAC50300,AAC50301,CAA49541,CAA57849,P30988,Q5ZGL8,Q659U6,CBN80565,CBN80566,CBN80567,CBN80568,NP_001733,AAB83945,EAL24142,EAW76813,EAW76814,AAD14268,BAA86929,BAA86928,NP_001158209,NP_001158210 Hs.489127 CRT|CT-R|CTR|CTR1 CT-R|OTTHUMP00000162535|OTTHUMP00000208683|OTTHUMP00000208686|calcitonin receptor 1643401 BMD1_H protein-coding 733108 CALCRL calcitonin receptor-like 1580863 7818539,19598235,19394311,19210874,18198792,17785463,17675298,17503773,17310067,17067815,16622024,16495482,16410241,16344560,16293613,15797661,15641806,15613468,15340161,15300632,15245870,14722252,14668209,12824306,12684703,12684503,12630808,12574158,12538603,12490608,12419522,12234182,12213903,12128288,12093471,12084528,11973435,11937264,11921352,11814625,11693189,11535606,11420389,11389975,11387328,10903324,10882736,10772950,10767413,10217420,9876047,9620797,8626685,3001670,2826160,12036966,20954838,18039931,18240029,19581316,19898635,19903822,19913063,20074556,20379614,20424473 10203 NM_005795,AC007319,AC074020,CH471058,AA436933,AA961493,AK291630,AK292998,AL602685,AY389506,BQ002778,CB270158,DA097876,DA215003,DA217003,DA883991,DQ280491,L76380,U17473 NP_005786,AAY14806,AAY14996,EAX10925,EAX10926,BAF84319,BAF85687,AAQ91332,ABC16643,AAC41994,AAA62158,Q16602,Q2PZS6,AAI56828 Hs.470882 CGRPR|CRLR CGRP type 1 receptor|OTTHUMP00000205433|OTTHUMP00000205434|calcitonin gene-related peptide type 1 receptor|calcitonin receptor-like receptor protein-coding 730856 CALD1 caldesmon 1 This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 2314036,1580863 1555769,16130169,18772142,18353764,17631293,17582218,17081983,16800003,16115893,15958622,15521070,15489334,15456752,15226374,15161654,15047636,14702039,12613668,12477932,11996092,11894847,11759055,11736632,11098082,10919986,10766836,10559276,9415999,9003189,8889548,8581978,8307018,1885618,1601129,1465449,14627618,15146197,16344560,18029348,19582387,19764806,19834610,19889635,20379614 2314036 800 AB062484,AF247820,AF315788,AI926727,AJ223812,AK021691,AK022222,AK022456,AK289686,AK298524,AK300282,AK304729,AL601004,BC005006,BC014035,BC015839,BC040354,BC061926,BF675655,BF965359,BQ010124,BU683034,BX538339,BX648808,BX649088,CA433571,CD359921,CR591226,CR600262,D90452,D90453,M64110,M83216,NM_033157,NM_004342,NM_033139,NM_033140,AC019014,AC083870,BX640946,CH236950,CH471070,CS158819,NM_033138,AU134367,CA447404,CK821334,CN314587,CV573441,DA323544,DA546174,DB090561 BAB93509,AAF69498,BAF82375,BAG60727,BAH13250,BAG65492,AAH05006,AAH14035,AAH40354,AAH61926,CAD98104,CAI46261,BAA14418,BAA14419,AAA35636,AAA58419,AAA58420,Q05682,Q05DR4,Q5HY93,Q6P707,Q6PJM5,Q7Z2Y9,Q8NI76,Q9NYG1,NP_149129,NP_149347,NP_004333,NP_149130,NP_149131,EAW83826,EAW83827,EAW83828,EAW83830,EAW83831,EAW83832,EAW83833,EAW83834,EAW83835,CAJ29926 Hs.490203 CDM|H-CAD|HCAD|L-CAD|LCAD|MGC21352|NAG22 OTTHUMP00000207950|OTTHUMP00000207953|OTTHUMP00000207954|OTTHUMP00000207955|OTTHUMP00000214473|caldesmon protein-coding 1603161 CALHM1 calcium homeostasis modulator 1 CALHM1 is a cerebral Ca(2+) channel that controls processing of amyloid-beta (A-beta) precursor protein (APP; MIM 104760) (Dreses-Werringloer et al., 2008 [PubMed 18585350]).[supplied by OMIM] 20534741,20574532,20592574,20634593,19191331,19191332,19472444,19545933,19655363,19749425,19944073,20005921,20061624,20164573,20164592,20164602,20847397,18585350,19070563,19038093,18667147,15489334,15164054,12477932 255022 NG_016855,NM_001001412,AL139339,CH471066,BC036193,BC036208 NP_001001412,CAH71484,EAW49632,AAH36193,AAH36208,Q8IU99 Hs.680365 FAM26C|MGC39514|MGC39617 calcium homeostasis modulator protein 1|family with sequence similarity 26, member C protein-coding 1317957 CALHM2 calcium homeostasis modulator 2 1580863 15489334,15164054,14702039,12477932,9110174,8619474,18585350,16344560,16385451,20164573 51063 NM_015916,NR_024552,AL139339,CH471066,AF131810,AK022195,BC000039,CA432041,CR614833,DB109582 NP_057000,CAH71483,EAW49633,EAW49634,EAW49635,EAW49636,EAW49637,EAW49638,AAD20050,BAB13983,AAH00039,Q9HA72 Hs.241545 FAM26B calcium homeostasis modulator protein 2|family with sequence similarity 26, member B protein-coding 1347189 CALHM3 calcium homeostasis modulator 3 18585350,15489334,15164054,12477932,16385451,20164573 119395 NM_001129742,AL139339,BC039499,BC043367 NP_001123214,CAH71485,AAH39499,AAH43367,Q86XJ0,ADR82711 Hs.364624 FAM26A|bA225H22.7 calcium homeostasis modulator protein 3|family with sequence similarity 26, member A protein-coding 735369 CALM1 calmodulin 1 (phosphorylase kinase, delta) Calmodulin is the archetype of the family of calcium-modulated proteins of which nearly 20 members have been found. They are identified by their occurrence in the cytosol or on membranes facing the cytosol and by a high affinity for calcium. Calmodulin contains 149 amino acids and has 4 calcium-binding domains. Its functions include roles in growth and the cell cycle as well as in signal transduction and the synthesis and release of neurotransmitters.[supplied by OMIM] 2305981,1300048 15494036,18768750,18989758,19133300,19596235,19615732,19667195,20468064,2445749,19080622,19034380,19023099,18940010,18452398,18178620,18001530,17975119,17884685,17654480,17580302,17569884,16627785,16613843,16359877,16344560,16299511,16258073,16154564,16127172,16084495,16030015,16013055,15902271,15817490,15806159,15746192,15746150,15670850,15632291,15583004,15522886,15316014,15229223,15147735,15104175,15087444,14613930,14594800,14551202,12925680,12821674,12808128,12805215,12727204,12724311,12715898,12626507,12556500,12509414,12477932,12475216,12446675,12408866,12358748,12223552,12153558,12135876,12051765,12034722,12032157,12006621,11984006,11981030,11953448,11827172,11741295,11736632,11585916,11457836,11448995,11395482,11323678,11278607,11248124,11178895,11171103,11054265,10899953,10893241,10860555,10852921,10816571,10757985,10748158,10747990,10692436,10681496,10547355,10488094,10416864,10411641,10333484,10088721,10075700,10075657,15746172,14960328,8872303,15664518,14985437,20562859,7525583,7490111,6847627,6385987,3472906,3350007,3111527,2507540,2487274,2455687,2223880,2161834,2123288,1790714,1660262,1544444,1520270,1332771,11072229,8312049,8226798,9282777,17046994,16229872,10625668,9658102,8862395,8780394,9362478,8573130,2062825,1872871,9096366,11847276,10827182,11734550,8626479,12221128,10823944,12809501,14695896,7559563,10026200,10026195,9952395,9923700,9837900,9822657,9753452,9728925,9681195,9512352,9490638,9374536,9341188,9278050,9202019,9188503,9115241,9092566,9009191,9003189,8901523,8900147,8824319,8769426,8756646,8670801,8663089,8639568,8625412,8486648,8314583,8206911,7947686,7925473,7887964,7836475,7642608,7593266,21047202,19855925,19913121,20628086,20738160 2305981 801 AI651063,NG_013338,NM_001166106,NM_006888,AC006536,AL512791,CH471061,U12022,AK289937,AU122722,AY189287,BC000454,BC007965,BC008597,BC011834,BC042831,BC047523,BT006818,BX479707,BX482177,BX537677,BX648223,CR590380,CR591035,CR592381,CR595745,CR604747,CR611512,CR618763,CR619428,CR626701,M27319,U16850 NP_001159578,NP_008819,AAD45181,EAW81427,EAW81428,AAB60644,BAF82626,AAO86731,AAH00454,AAH07965,AAH08597,AAH11834,AAP35464,AAA35635,P62158,Q96HY3 Hs.282410 CALM2|CALM3|CALML2|CAMI|DD132|PHKD caM|calmodulin|calmodulin 1|phosphorylase kinase, delta subunit protein-coding 1345562 CALM1P1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 7925473,2885258 802 NG_001089,AL022161,U12435 CALML1 pseudo 1344159 CALM1P2 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 7925473 804 NG_001090,AC073324,CH236957,U12475 pseudo 736342 CALM2 calmodulin 2 (phosphorylase kinase, delta) 2305981,1300048 16127172,17687619,16545345,16189514,15723066,15632291,15342556,15225611,14702039,14613930,12577052,12477932,12221128,12189141,12153558,12051765,12032157,11981030,11953448,11741295,11736632,11591728,11054265,10899953,10823944,10816571,10757985,10692436,10416864,9923700,9681195,9278050,9242710,8314583,8076819,3111527,2445749,2223880,11072229,8312049,8226798,9282777,17046994,16229872,10625668,9658102,8862395,8780394,9362478,8573130,9096366,11847276,16169070,19584346,20198394,20379146,20379614,21047202,19913121,20628086 2305981 805 BC047553,BP370358,BT009916,CR541990,CR542021,CR590655,CR591343,CR592069,CR592350,CR593656,CR594016,CR597132,CR601833,CR604986,CR605016,CR605025,CR605532,CR605655,CR605737,CR606009,CR606757,CR607251,CR607372,CR609213,CR614176,CR615210,CR617592,CR617995,BC026065,AC073283,CH471053,U94725,U94726,U94727,U94728,AI873701,AK055130,AK315694,BC003354,BC006464,BC008437,BC017385,BC018677,NM_001743,CR618742,CR621576,CR621831,CR624584,CR625162,D45887,M19311 AAH26065,AAP88918,CAG46787,CAG46818,NP_001734,AAY24085,EAX00220,EAX00221,EAX00222,EAX00223,AAC83174,BAG38057,AAH03354,AAH06464,AAH08437,AAH17385,AAH18677,BAA08302,AAA35641,P62158,Q96HY3 Hs.468442 CALM1|CALM3|CAMII|FLJ99410|PHKD|PHKD2 LP7057 protein|OTTHUMP00000202341|OTTHUMP00000202343|caM|calmodulin|phosphorylase kinase delta protein-coding 1353740 CALM2P1 calmodulin 2 pseudogene 1 2717417 100128390 NG_002716,AC005242,X13907 pseudo 1344512 CALM2P2 calmodulin 2 pseudogene 2 1999288 806 NG_001091,AL731540,X52955 pseudo 1350868 CALM2P3 calmodulin 2 pseudogene 3 1999288 807 NG_004858,AL354696,X52956 pseudo 737387 CALM3 calmodulin 3 (phosphorylase kinase, delta) 2305981,1300048 15632291,2223880,9681195,11984006,7607248,10899953,16760425,9188442,9580552,10781589,19429631,18768750,16299511,15815621,15746192,15719022,15592455,15489334,15140941,14702039,14613930,12871148,12577052,12508121,12485993,12477932,12153558,12051765,12032157,11981030,11953448,11807546,11741295,11736632,11710561,11685248,11591728,11054265,10816571,10757985,10737800,10692436,10416864,9927666,9923700,9804419,9278050,8476923,8314583,7925473,7803388,7093203,6385987,3182832,3111527,2445749,2244899,1474585,11072229,8312049,8226798,9256481,17046994,16229872,10625668,9658102,8862395,8780394,9362478,8573130,9096366,11847276,11278607,17353931,10880439,10373510,10823944,11286509,11448995,12189141,12221128,12821674,14594800,14622581,14627618,14630798,14701808,14960328,15032605,15723066,16127172,16169070,16189514,17620599,17719545,19001277,20379146,6330098,6457647,8615909,8702940,9242710,19913121,20628086,21047202 2305981 808 J04046,AC093503,CH471126,X52606,X52608,AK094964,AK295927,AK310762,AL050207,AW883334,BC005137,BC006182,BG753029,BT006855,CR603846,CR604087,CR616035,CR626367,NM_005184 AAA51918,P62158,Q96HY3,Q9BRL5,NP_005175,EAW57425,EAW57426,EAW57427,EAW57428,EAW57429,CAA36839,BAG58713,AAH05137,AAH06182,AAP35501 Hs.515487 CALM1|CALM2|PHKD|PHKD3 OTTHUMP00000164794|caM|calmodulin|calmodulin 3 protein-coding 1352091 CALML1 calmodulin-like 1 809 1313562 CALML3 calmodulin-like 3 1580863 8428750,19166543,18818677,17130134,16189514,15489334,15164054,12477932,12067719,11426940,11278607,8507643,8476923,3181418,2217169,1334432,16385451,19615732 810 NM_005185,AL732437,CH471072,X13461,AK313934,BC031889,M36707,M58026 NP_005176,CAI11029,EAW86443,CAA31809,BAG36653,AAH31889,AAA36356,P27482,ABM82702,ABM85886 Hs.239600 CLP caM-like protein|calmodulin-like protein 3|calmodulin-related protein NB-1 protein-coding 1344788 CALML4 calmodulin-like 4 16344560,14702039,12747765,12477932 91860 NM_033429,AC107871,CH471082,AF308287,AK092628,AK296804,BC009516,BC015215,BX640702,BX640817,CR598967,CR608147,NM_001031733,DB204573 NP_001026903,NP_219501,EAW77808,EAW77809,EAW77810,AAG48255,BAG59377,CAE45822,CAE45894,Q6MZY3,Q96GE6 Hs.709550 MGC4809|NY-BR-20 OTTHUMP00000194712|calmodulin-like protein 4|serologically defined breast cancer antigen NY-BR-20 protein-coding 1320724 CALML5 calmodulin-like 5 This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq] 1580863 10777582,17353931,16765896,16689864,15489334,12477932,11969404,11407979,9373149,8125298,19615732 51806 NM_017422,AL732437,CH471072,AF172852,AK222744,BC039172 NP_059118,CAI11030,EAW86444,AAF66821,BAD96464,AAH39172,Q53H37,Q9NZT1 Hs.180142 CLSP calmodulin-like protein 5|calmodulin-like skin protein protein-coding 1346825 CALML6 calmodulin-like 6 1580863 16710414,15621662,12477932,18029348 163688 NM_138705,AL109917,CH471183,AF490905,AY566229,BC053567 NP_619650,CAI95655,CAM12839,EAW56144,EAW56145,EAW56146,AAM08411,AAS67001,Q8TD86,AAI60060 Hs.85902 CAGLP EF-hand protein|calglandulin-like protein|calmodulin-like protein 6 protein-coding 1314120 CALN1 calneuron 1 This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 19338761,16344560,15489334,12853948,12690205,12477932,11286509,9847074,9110174,8619474,14702039,20379614 83698 NM_031468,NM_001017440,AC004845,AC004905,AC005011,AC006334,AC067941,AC092424,AC092785,CH236952,CH471140,AF282250,AK091485,AK094469,AK123862,AK313054,AL117636,AY007302,AY726595,BC020200,BG718538,DA101934,DA150825,DA805580 NP_113656,NP_001017440,AAP21889,AAS02041,AAP21872,AAS07507,AAS07466,EAL23970,EAX07901,EAX07902,AAK15155,BAG53974,BAG35885,AAG09620,AAH20200,Q75MI2,Q75MP5,Q75MW5,Q86UL5,Q86UM7,Q9BXU9,ABM83066,ABM86260 Hs.592750 CABP8 OTTHUMP00000160216|OTTHUMP00000198477|OTTHUMP00000198493|OTTHUMP00000210382|OTTHUMP00000210383|calcium-binding protein 8|calcium-binding protein CABP8|calneuron I|calneuron-1 protein-coding 731575 CALR calreticulin Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq] 1580863,704416,2326172,2326165 20480531,20699648,20855873,18177377,8006073,7923996,7876246,7622522,7592883,7559457,3260607,2400400,2365822,2332496,1939344,1919005,1733953,1286669,1286667,17353931,11765911,12052826,18022694,17982021,17959730,17947714,17655857,17499031,17390051,17009399,16974078,16951317,16951181,16542777,16527813,16522185,16236267,16140380,15952740,15893733,15855281,15634883,15596044,15494401,15489334,15383281,15371419,15351734,15236594,15057824,14985176,14980518,14732231,14624761,12821648,12740382,12704787,12646570,12584332,12538033,12477932,12397072,12383251,12362238,12324449,12239218,12235131,12196561,12147682,12065601,11891802,11825569,11378243,11327697,11322874,10887119,10547375,10513896,10508608,10436013,10364189,10358038,9988700,9693955,9671507,9545232,9525969,9373149,9359841,9312001,9150948,9089287,9036970,8910335,8904349,8805302,8769474,8662691,8550632,8537405,8418194,8125298,8062452,8050453,10929008,18303019,18795239,11149926,8107809,15474971,11842004,1911778,14726956,12242300,17563366,10581245,16130169,8107808,19580784,19470730,19154346,19100874,19054761,19050968,18925427,18791162,18653767,18641393,18563736,18559259,18417548,18221019,17055437,17215244,18765291,18801343,19524015,19567621,19608864,19684620,7841019,8666824,16522924,21115737,19760677,20861015,19913121,20624402,20628086,19659458,20533543 704416,2326172,2326165 811 BC007911,BC020493,BC107102,BT007448,CR457070,CR590159,CR598365,CR604311,CR608681,CR613536,CR613586,CR619960,CR625160,M32294,M84739,AC092069,AD000092,CH471106,CS288581,AB451408,AF087986,AK130190,AK223060,AK295230,AK304492,AY047586,BC002500,NM_004343 AAH07911,AAH20493,AAP36116,CAG33351,AAA36582,AAA51916,P27797,Q53G71,NP_004334,AAB51176,EAW84330,EAW84331,EAW84332,CAK18761,BAG70222,BAD96780,BAG58223,BAG65301,AAL13126,AAH02500 Hs.515162 CRT|FLJ26680|RO|SSA|cC1qR CRP55|ERp60|HACBP|Sicca syndrome antigen A (autoantigen Ro; calreticulin)|autoantigen Ro|calregulin|calreticulin|endoplasmic reticulum resident protein 60|grp60 protein-coding 1319475 CALR3 calreticulin 3 Calreticulins, such as CALR3, are Ca(2+)-binding chaperones localized mainly in the endoplasmic/sarcoplasmic reticulum Persson et al. (2002) [PubMed 12384296].[supplied by OMIM] 1580863 12384296,17975137,15489334,15342556,14702039,12477932 125972 AB576176,NM_145046,AC008764,CH471106,CS288583,AK058084,BC014595,BP370084,DB459545,DB510196 BAJ14705,NP_659483,EAW84546,CAK18762,BAB71655,AAH14595,Q96L12,ABM81829,ABM84982 Hs.304020 CRT2|CT93|FLJ25355|MGC26577 calreticulin 2|calreticulin-2|calreticulin-3|cancer/testis antigen 93 protein-coding 3399173 CALR4P calreticulin 4, pseudogene 20210993 441884 AC104170,AL772260,NG_021361 pseudo 733017 CALU calumenin The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863,2316232 18029348,18688696,19794411,19958090,20020283,20149073,20200517,20499136,21057703,12477932,11827452,11230166,11076863,10631319,10222138,9675259,9598325,10094503,9218460,17596133,17189218,17081983,17081065,17049586,17048007,16964243,16381901,16344560,16303743,15489336,15489334,14702039,12690205,12665801,12643545,19913121,20553802,20628086,20673165 2316232 813 HM002604,HM002605,HM002606,HM002607,HM002609,HM002610,HM002611,HM002613,HM002615,HM002616,BT006826,BT020143,BX091230,CR457039,CR541835,CR594466,CR596192,CR598627,DA023987,U67280,NM_001130674,AC024952,CH236950,CH471070,AF013759,AF257659,AF345637,AK027460,AK056338,AK074862,AK075089,AK312446,AW068942,BC013383,NM_001219,BF438624,DA703012,NM_001199671,NM_001199672,NM_001199673,NM_001199674 ADG45004,ADG45005,ADG45006,ADG45007,ADG45009,ADG45010,ADG45011,ADG45013,ADG45015,ADG45016,AAP35472,AAV38945,CAG33320,CAG46634,AAB97725,O43852,Q6IAW5,CAL37464,CAL37467,CAL37505,CAL37557,CAL37588,CAL37696,AAH13383,NP_001210,NP_001124146,EAL24113,EAW83674,EAW83675,EAW83676,EAW83677,EAW83678,EAW83679,AAC17216,AAF76141,AAK72908,BAG51328,BAG51681,BAG52017,BAG52065,BAG35353,CAL37834,CAL37878,CAL37907,CAL37987,CAL38060,CAL38141,CAL38267,CAL38335,NP_001186600,NP_001186601,NP_001186602,NP_001186603,CAL38634,CAL38691,ABM83159,ABM86360 Hs.7753 FLJ90608 IEF SSP 9302|OTTHUMP00000212714|OTTHUMP00000212715|calumenin|crocalbin|crocalbin-like protein|multiple EF-hand protein|reticulocalbin protein-coding 1601759 CALY calcyon neuron-specific vesicular protein The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq] 16595675,14534309,19352218,17885599,17623072,17081983,16172615,15489334,14755439,12477932,11583808,20602615,16385451,20468064 50632 NM_015722,AL360181,CH471211,AF225903,BC038978,BI914942,BP392207,CR606939 NP_056537,CAH70279,CAH70280,CAH70281,EAW61334,EAW61335,AAF34714,AAH38978,Q9NYX4 Hs.148680 DRD1IP|NSG3|RP11-122K13.5 D1 dopamine receptor-interacting protein|OTTHUMP00000020795|calcyon D1 dopamine receptor-interacting protein (CALCYON)|calcyon protein|dopamine receptor D1 interacting protein|neuron-specific vesicular protein calcyon protein-coding 731618 CAMK1 calcium/calmodulin-dependent protein kinase I Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq] 1580863 19844571,20468064,9395448,7641687,19086053,18089838,15680915,15489334,15367659,15251453,14754892,14507913,12935886,12665801,12630910,12539042,12477932,12475216,12237306,12193581,11395482,11114197,11081517,10874031,10571231,10400690,10187789,9822657,9705275,9662074,8384217,7559563,1375933,19913121,20628086 8536 NM_003656,AC022382,CH471055,EF444963,AB451277,AB451407,AK314917,BC106754,BC106755,BI546222,CR607002,CR616859,CR621015,L41816 ACT64438,NP_003647,EAW63989,EAW63990,EAW63991,EAW63992,EAW63993,ACA05961,BAG70091,BAG70221,BAG37428,AAI06755,AAI06756,AAA99458,Q14012,ACE87772 Hs.434875 CAMKI|MGC120317|MGC120318 caM kinase I alpha|caM-KI|caMKI-alpha|calcium/calmodulin-dependent protein kinase type 1|regulator of g-protein signalling 19 protein-coding 1603628 CAMK1D calcium/calmodulin-dependent protein kinase ID This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be involved in the regulation of granulocyte function through the chemokine signal transduction pathway. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq] 16385451,18029348,19602701,19670153,19720844,19741467,19794065,19833888,19933996,20080650,20161779,20379614,20418484,11264466,19383354,19324937,19139842,19020324,19020323,18372903,15840691,15489334,15164054,12935886,12477932,11050006,20571754,20677014,20862305,20712903,20879858,20889853,20927120 57118 HH961742,EF444962,NM_020397,AL391314,AL512284,AL512783,AL603717,AL731559,CH471072,AB081726,AF286366,AI821714,AK289393,NM_153498,BC035745,BQ059621,BU542765,CR616818 CBX51344,ACA05958,ACA05959,ACA05960,NP_705718,NP_065130,CAI14409,CAI14410,CAH71693,CAH71694,CAH74035,CAH74036,CAI14674,CAI14675,EAW86314,EAW86315,EAW86316,BAC19846,AAG00534,BAF82082,AAH35745,Q5SQQ7,Q8IU85,ABM83390,ABM86602 Hs.659517 CKLiK|CaM-K1|CaMKID CaM kinase ID|CamKI-like protein kinase|caM kinase I delta|caM-KI delta|caMKI delta|calcium/calmodulin-dependent protein kinase type 1D protein-coding 732495 CAMK1G calcium/calmodulin-dependent protein kinase IG This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq] 19913121,20628086,16710414,15489334,14702039,12637513,12477932,10645953,20729199 57172 NM_020439,AL023754,CH471100,AF428261,AK095713,AK289675,AL049688,AY212935,BC032787,BG715920 NP_065172,CAI19990,EAW93450,EAW93451,EAW93452,AAL28100,BAG53112,BAF82364,CAB41259,AAP29964,AAH32787,Q96NX5,ABM82986,ABM86179,CAI19991 Hs.199068 CLICKIII|VWS1|dJ272L16.1 CLICK III|OTTHUMP00000034558|caM kinase I gamma|caM kinase IG|caM-KI gamma|caMK-like CREB kinase III|caMKI gamma|caMKIG|calcium/calmodulin-dependent protein kinase type 1G protein-coding 736752 CAMK2A calcium/calmodulin-dependent protein kinase II alpha The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 12147342,11930170,11889801,11867691,11814622,11751951,11710563,11468283,11459059,11447121,11331285,11306676,11278737,11264466,11222640,11160423,11104776,11027280,10874031,10862698,10861222,10851169,10753652,10737800,10737616,10629061,10400690,10347170,10318869,10231032,10090741,9832145,9771888,9735171,9724800,9452388,9452387,9115241,9099667,8999860,8980240,8940188,8413226,7929371,7822264,7706316,7523419,3475713,2394752,2164678,2155236,2114109,1375933,1374067,1314426,1309762,11679592,8663317,12871946,17353931,18227124,17632540,17627985,17603807,17221287,16820363,16565089,16557530,16436603,16247765,16120608,16115892,15866054,15673434,15621017,15358237,15312654,15140879,15044063,14970204,14722083,12954639,12951199,12933808,12630910,12486117,12477932,12475968,12435421,12408851,12387894,12223541,17052756,19453375,19328558,19156168,18305109,10373510,11013247,12815021,14622581,18218981,18311135,19638347,20053885,20379614,8615909,8665664,9481670,9813144 815 NM_015981,AC011372,CH471062,AB023185,AF091486,AF145710,AF145711,AK289776,AK308853,BC040457,BF951952,CR612614,CR613519,NM_171825 NP_741960,NP_057065,EAW61741,EAW61742,BAA76812,AAD55815,AAD30558,AAD30559,BAF82465,AAH40457,Q7LDD5,Q8IWE0,Q9UQM7,ACE87455,ACE86769 Hs.725992 CAMKA|KIAA0968 CaM kinase II alpha subunit|CaM-kinase II alpha chain|CaMK-II alpha subunit|CaMKIINalpha|caM kinase II subunit alpha|caMK-II subunit alpha|calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha|calcium/calmodulin-dependent protein kinase II alpha-B subunit|calcium/calmodulin-dependent protein kinase type II alpha chain|calcium/calmodulin-dependent protein kinase type II subunit alpha protein-coding 735326 CAMK2B calcium/calmodulin-dependent protein kinase II beta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Eight transcript variants encoding eight distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 10373510,11013247,12815021,14622581,15604093,18218981,18311135,20379614,8615909,9481670,8665664,9060999,19156168,19058789,18302935,17419996,16436603,16381901,16344560,16247765,16185778,16126727,15792370,15665723,15489336,15489334,15312654,15199064,14722083,14702039,14565989,12853948,12690205,12496285,12477932,12475968,12147342,11889801,11867691,11751951,11710563,11468283,11325525,11306676,11160423,11076863,11042361,10858498,10819240,9724800,9373149,9115241,9110174,8940188,8619474,8125298,7758473,3417668,2842767,17353931 816 NM_172084,NM_172083,NM_172081,NM_172079,NM_172080,NM_172082,NM_172078,NM_001220,AC006454,AC093086,AC106040,CH236960,CH471128,AA399393,AB073352,AF078803,AF081572,AF081924,AF083419,AF112471,AF112472,AF131776,AF140350,AI190315,AJ252236,AJ252237,AJ252238,AK091991,AK222703,AK290148,AK294138,AK315663,BC019070,BI550751,BX445032,CR602217,CR602724,CR617994,CR622698,DA069361,DB175099,DB566810,U23460,U50358 NP_742081,NP_742080,NP_742078,NP_742076,NP_742077,NP_742079,NP_742075,NP_001211,AAS07454,AAS02024,EAL23755,EAL23756,EAL23757,EAL23758,EAL23759,EAL23760,EAL23761,EAL23762,EAW61104,EAW61105,EAW61106,EAW61107,EAW61108,EAW61109,AAD42035,AAD42036,AAD42037,AAD42038,AAD03743,AAD03744,AAD42070,CAB65120,CAB65121,CAB65122,BAD96423,BAF82837,BAH11682,BAG38029,AAH19070,AAC99802,AAB16863,Q13554,Q53H78,Q75KE9,Q75LA8,CAL37627,CAL37670,CAL38439,CAL38692 Hs.351887 CAM2|CAMK2|CAMKB|MGC29528 CaM kinase II beta subunit|CaM-kinase II beta chain|OTTHUMP00000159355|OTTHUMP00000159356|OTTHUMP00000209344|caM kinase II subunit beta|caMK-II subunit beta|calcium/calmodulin-dependent protein kinase (CaM kinase) II beta|calcium/calmodulin-dependent protein kinase ii beta subunit|calcium/calmodulin-dependent protein kinase type II beta chain|calcium/calmodulin-dependent protein kinase type II subunit beta|proline rich calmodulin-dependent protein kinase protein-coding 736174 CAMK2D calcium/calmodulin-dependent protein kinase II delta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns. 1580863 10373510,11013247,12815021,14622581,16120608,18311135,18832449,19615732,20332099,20379614,8615909,8665664,9481670,18218981,17192257,17179159,17081983,16436603,16344560,16185778,16154993,15489334,15345747,14722083,14702039,12477932,12145273,11972023,11889801,10852918,10819240,10525155,10189359,9847074,9692886,9165051,9115241,8404858,17353931,20442409,9060999,11264466,19132087,20668654,20814023 817 NM_172127,NM_172128,NM_001221,NM_172115,NM_172114,NM_172129,AC004056,AC004168,AC093900,AC107386,CH471057,AB209288,AF071569,AI004608,AI057019,AJ252239,AK025368,AK055642,AK294517,AL120285,AY987011,BC022558,BC032784,BX538071,BX647363,CA416772,CF551834,DA113081,U50361,U73738 NP_742125,NP_742126,NP_001212,NP_742113,NP_742112,NP_742127,EAX06295,EAX06296,EAX06297,EAX06298,EAX06299,EAX06300,EAX06301,BAD92525,AAD20442,CAB65123,BAG51545,BAH11796,AAX88806,AAH22558,AAH32784,AAB16866,AAB18327,Q13557,Q4G1A8,Q92991,ABM86181,ABW03692 Hs.144114 CAMKD|DKFZp686G23119|DKFZp686I2288|MGC44911 CaM kinase II delta subunit|CaM-kinase II delta chain|CaMK-II delta subunit|OTTHUMP00000163830|OTTHUMP00000220382|OTTHUMP00000220383|OTTHUMP00000220385|OTTHUMP00000220386|OTTHUMP00000220389|caM kinase II subunit delta|caMK-II subunit delta|calcium/calmodulin-dependent protein kinase (CaM kinase) II delta|calcium/calmodulin-dependent protein kinase ii, delta|calcium/calmodulin-dependent protein kinase type II delta chain|calcium/calmodulin-dependent protein kinase type II subunit delta protein-coding 1604851 CAMK2G calcium/calmodulin-dependent protein kinase II gamma The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Six alternatively spliced variants that encode six different isoforms have been characterized to date. Additional alternative splice variants that encode different isoforms have been described, but their full-length nature has not been determined. [provided by RefSeq] 20851109,9060999,9240463,11264466,19204726,19001023,18483256,18434368,17553505,17431504,17373700,17192257,17081983,17032905,16436603,16002660,15775983,15322115,15164054,14963018,14722083,14702039,14532276,12808093,12637327,12609872,12554746,12486117,12477932,12032636,11972023,11889801,11839738,11825621,11535587,11398101,11359875,11325525,11160423,11108966,11080189,11027280,10860555,10748018,10693762,10625670,10366608,10347170,10212259,9768837,9721757,9677319,9407043,9373149,9355737,9224693,9115241,8798667,8663317,8449910,8404858,8380342,8287681,8125298,7877986,7876254,7690989,7557101,7543024,6150037,3118371,2160950,1309762,11290523,10373510,11013247,12815021,14622581,16120608,16385451,18218981,18311135,19603549,19615732,19671701,19682070,19840793,20060891,20139089,20149311,8615909,8665664,9481670,19913121,20628086 818 AB209474,AK026309,AK094774,AK095576,AK131199,AK225771,AK291704,AK301180,BC012795,BC021269,BC034044,BC037928,BU165166,CR613060,CR618627,L07043,L07044,U32472,U32473,U32509,U50359,U50360,U66063,U66064,NM_001222,NM_172171,NM_172173,NM_172169,AC022400,AF415177,AL596247,AL713896,CH471083,NM_172170 EAW54539,EAW54540,EAW54541,EAW54542,EAW54543,BAD92711,BAG53089,BAG54748,BAF84393,BAG62765,AAH21269,AAH34044,AAB61379,AAA75201,AAA75202,AAA75203,AAB16864,AAB16865,AAB80847,AAB80848,O00561,Q13280,Q13555,Q59FI6,Q5SWX3,Q5SWX4,Q8WU40,ABM83291,ABM86500,ABM87691,NP_751910,NP_001213,NP_751911,NP_751913,NP_751909,AAM33514,CAI13964,CAI13965,CAI13966,CAI13967,CAI13968,CAI13787,CAI13788,CAI13789,CAI13790,CAI13791,EAW54527,EAW54528,EAW54529,EAW54530,EAW54531,EAW54532,EAW54533,EAW54534,EAW54535,EAW54536,EAW54537,EAW54538 Hs.523045 CAMK|CAMK-II|CAMKG|FLJ16043|MGC26678 OTTHUMP00000019845|OTTHUMP00000019846|caM kinase II subunit gamma|caMK-II subunit gamma|calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma|calcium/calmodulin-dependent protein kinase type II subunit gamma protein-coding 1602218 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 18305109,12650977,12477932,12175859 55450 NM_018584,AL391357,CH471134,AF116637,AY204901,BC020630,BI820748,DB475389 NP_061054,CAH73469,EAW94923,EAW94924,AAF71060,AAO49802,AAH20630,Q7Z7J9,Q9P1J2 Hs.726326 MGC22256|PRO1489|RP11-401M16.1 CaMKIINalpha|calcium/calmodulin-dependent protein kinase II inhibitor 1 protein-coding 732268 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. 12531901,12477932,11444830,9724800,19586909,20487031 94032 NM_033259,AC061705,AC078797,CH471052,AY037149,BC105077,BC105079 NP_150284,EAW78280,EAW78281,AAK67630,AAI05078,AAI05080,Q96S95 Hs.585003 CAM-KIIN|CAMKIIN CaM-KII inhibitory protein|calcium/calmodulin-dependent protein kinase II inhibitor 2 protein-coding 731356 CAMK4 calcium/calmodulin-dependent protein kinase IV The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq] 734683,1580863,734684 19436069,19506079,19633294,20171262,20378615,20379614,8089075,18029348,19538941,19386606,19017650,19001277,18829949,18660489,18606955,18053176,17909078,17903302,17192257,15841182,15840651,15680915,15665723,15591024,15489334,15143065,14701808,12630910,12477932,12065094,11970865,11572782,11470791,11395482,11274168,10932193,10874031,10681496,10617605,9822657,9705275,9154845,8702940,8621423,8194751,8107230,7615569,2536634,2011593,1375933,15902271,10400690,16344560,20677014 734683,734684 814 NM_001744,AC010275,AC010468,AC011422,CH471086,AK311662,AK312840,AL833368,BC016695,BC025687,BG721313,CR615443,CR622299,D30742,L17000,L24959,DA396146 ABM84121,ABM84122,ABM87522,ABM87523,ABM87524,ABM87525,NP_001735,EAW49032,EAW49033,EAW49034,BAG35694,AAH16695,AAH25687,BAA06403,AAA35639,AAA18251,Q16566,ABM83828 Hs.591269 CaMK IV|CaMK-GR|IV|MGC36771|caMK CAM kinase IV|CAM kinase- GR|OTTHUMP00000222818|brain Ca(2+)-calmodulin-dependent protein kinase type IV|brain Ca++-calmodulin-dependent protein kinase type IV|caM kinase-GR|caMK IV|calcium/calmodulin-dependent protein kinase type IV|calcium/calmodulin-dependent protein kinase type IV catalytic chain protein-coding 1349409 CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq] 2311420,1580863 18270593,16741161,15489334,15324660,12935886,12628440,12477932,11574070,11230166,10833263,10560916,10187789,9705275,8621423,7642608,7615569,15591024,18695047,19247474,19520843,20106900,20453000 2311420 84254 NM_172206,NM_172207,AC005940,CH471108,AF370377,AF425232,AF425301,AK128601,AL136576,BC011401,BC031647,BC043487,NM_032294 NP_115670,NP_757343,NP_757344,EAW90474,EAW90475,EAW90476,AAQ15213,AAN37386,AAN37387,CAB66511,AAH31647,AAH43487,Q71RG0,Q8N5S9,ABM83347,ABM86561 Hs.8417 CAMKKA|DKFZp761M0423|MGC34095 CAMKK alpha protein|OTTHUMP00000115903|caM-KK 1|caM-KK alpha|caM-kinase IV kinase|caM-kinase kinase 1|caM-kinase kinase alpha|caMKK 1|calcium/calmodulin-dependent protein kinase kinase 1|calcium/calmodulin-dependent protein kinase kinase alpha protein-coding 737324 CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been described but their full-length nature has not been determined. The identified isoforms exhibit a distinct ability to undergo autophosphorylation and to phosphorylate the downstream kinases. [provided by RefSeq] 2311420 12935886,12477932,12168954,9872452,9822657,9662074,12628440,21084482,11395482,18436530,17197037,16880506,16673375,16247765,16054096,16054095,15489334,10187789,16344560,18029348,19407487,19667195,19763792,19958286,20018878,20379614,20562859 2311420 10645 NM_153500,NM_172216,NM_153499,NM_006549,NM_172226,NM_172215,NM_172214,AC069209,AF321389,AF321401,AF321402,CH471054,U87803,AB018330,AB081337,AF091074,AF101264,AF140507,AF287630,AF287631,AF321385,AF321386,AF321387,AF321388,AF425668,AK024748,AK292072,AK300865,AB081336,AL834322,BC000318,BC026060,BF972593,CR601834,AI612762,DA075361 NP_705720,NP_757365,NP_705719,NP_006540,NP_757380,NP_757364,NP_757363,AAK91830,AAK91829,EAW98247,EAW98248,EAW98249,EAW98250,EAW98251,EAW98252,EAW98253,EAW98254,EAW98255,EAW98256,EAW98257,EAW98258,BAA34507,BAC19840,BAC19841,AAC72943,AAD04566,AAD31507,AAK64600,AAK64601,AAL37215,AAL37216,AAL37217,AAL37218,AAN37388,BAF84761,BAG62514,CAD38990,AAH00318,AAH26060,Q8IZW1,Q96RR4,ABM84336,ABM87784 Hs.297343 CAMKK|CAMKKB|KIAA0787|MGC15254 CAMKK beta protein|ca+/calmodulin-dependent protein kinase kinase beta (cam-kinase kinase beta)|caM-KK 2|caM-KK beta|caM-kinase kinase 2|caM-kinase kinase beta|caMKK 2|calcium/calmodulin-dependent protein kinase beta|calcium/calmodulin-dependent protein kinase kinase 2|calcium/calmodulin-dependent protein kinase kinase beta protein-coding 1604302 CAMKV CaM kinase-like vesicle-associated 18029348,19367581,15489334,15345747,14702039,12477932,11256614,11230166,8283228,16169070 79012 NM_024046,AC105935,AC139451,CH471055,AK074856,AK074899,AK075294,AK226073,AK295588,AK297258,AK297437,AK299953,AK315525,AL136697,AL834461,BC000497,BC001921,BC005828,BC017363,BC019256,BC033374,BX647074,CR533508,CR608102,CR615725,AL833943 NP_076951,EAW65027,EAW65028,EAW65029,EAW65030,EAW65031,EAW65032,EAW65033,EAW65034,BAC11248,BAC11278,BAC11528,BAG58480,BAG59736,BAG59864,BAG61780,BAG37906,CAB66632,AAH00497,AAH01921,AAH05828,AAH17363,AAH19256,CAG38539,Q8NCB2,CAD38798,ABM82330,ABM87818 Hs.145156 1G5|MGC8407|VACAMKL OTTHUMP00000212745|OTTHUMP00000212766|caM kinase-like vesicle-associated protein|vesicle-associated calmodulin-binding protein protein-coding 1347931 CAMLG calcium modulating ligand The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq] 1580863,2316229 10880535,19135167,16243292,7522304,12919676,18391951,15668245,12477932,12388711,12031912,11006089,9632697,9311921,8824814,15451437,20126395,20485444 2316229 819 NM_001745,AC010301,CH471062,AF068179,AK313156,BC063532,BC130325,BG720084,CR590907,CR593088,CR596597,CR610994,CR616724,U18242 NP_001736,EAW62243,EAW62244,AAC23596,BAG35974,AAI30326,AAA59420,P49069,ADR82926 Hs.529846 CAML|MGC163197 OTTHUMP00000223128|calcium signal-modulating cyclophilin ligand|calcium-modulating cyclophilin ligand|calcium-signal modulating cyclophilin ligand|cyclophilin B-binding protein protein-coding 1343513 CAMP cathelicidin antimicrobial peptide Cathelicidin antimicrobial protein is an antimicrobial protein found in specific granules of polymorphonuclear leukocytes (PMNs).[supplied by OMIM] 1580863,2316243,2316237 12477932,12454100,12445197,12375270,12366839,12351523,12244186,12101274,11972628,11796631,11753073,11544322,11389039,11238224,11049988,11015447,10858248,10225921,9689116,9182550,8946956,8681941,7890387,7624374,7615076,7529412,16177355,20375583,20610648,20685090,20661475,19542465,19389235,19265148,19263072,19245866,19234121,19183447,19166322,19014773,18936485,18818205,18765670,18717821,18703682,18657865,18579695,18490458,18258235,18200058,18166145,18059019,17960624,17943182,17922409,17882905,17873860,17805349,17764778,17709140,17676051,17675463,17627504,17400609,17181861,17041145,17015740,17012259,16998135,16926414,16764694,16751768,16750994,16645154,16630942,16497887,16493063,16456005,16236890,16177113,16034119,15953032,15864780,15778507,15778390,15717688,15675959,15661923,15645239,15609314,15591123,15531744,15500911,15489334,15364108,15322010,15222757,15067080,15004180,14978112,14561157,12782669,12767238,12759353,12713586,12625579,12612195,12603850,12578451,17621825,19133797,19346112,19390494,19527294,19531482,19625657,19703986,19750480,19800862,19808939,19812202,19894716,19949065,20042575,20054823,20090765,20140902,20190140,20600427,17207965,20624254,20653851,19645825,20097832 2316243,2316237 820 NM_004345,AC104190,CH471055,U48795,X96735,AY162210,AY251531,BC055089,BU074012,CR457083,CR541961,U19970,X89658,Z38026,GM949500 NP_004336,EAW64854,AAC02634,AAN78318,AAP20054,AAH55089,CAG33364,CAG46759,AAA74084,CAA61805,CAA86115,P49913,ADQ32148,CAV11903 Hs.51120 CAP-18|CAP18|CRAMP|FALL-39|FALL39|HSD26|LL37 18 kDa cationic antimicrobial protein|CAP-18|cathelicidin antimicrobial peptide|hCAP-18 protein-coding 1321992 CAMSAP1 calmodulin regulated spectrin-associated protein 1 737633 14702039,12477932 737633 157922 BC010646,AL158822,AL353636,AL355574,CH471090,AJ420438,AJ519841,AK025533,AK055790,AL117634,AL834528,NM_015447,BC040549,BC130580,BC144082,BU949503,AW448941,BC012778 AAH10646,NP_056262,CAI39237,CAI40811,CAI14116,EAW88183,EAW88184,EAW88185,EAW88186,CAD58627,CAB56024,CAD39184,AAH12778,AAI30581,AAI44083,Q5T5Y3,Q9P1D5 Hs.522493 DKFZp434F195|DKFZp434G2311|FLJ31228|MGC163452|PRO2405|RP11-100C15.2|bA100C15.1 OTTHUMP00000202116|bA100C15.1 (novel protein)|calmodulin-regulated spectrin-associated protein 1 protein-coding 1604039 CAMSAP1L1 calmodulin regulated spectrin-associated protein 1-like 1 15897902,15345747,14702039,12477932,12107410,10470851 23271 BC045721,NM_203459,AL450104,CH471067,AB029001,AF087998,AK026348,AK095640,AK126821,AL110158,BC011385,BC029449,BC056910,BC065508,BC125229,BC125230,CA388618,H14341 NP_982284,CAI17076,CAI17077,CAI17078,CAI17079,EAW91320,EAW91321,BAA83030,BAG53096,BAG54376,CAB53664,AAH11385,AAH56910,AAI25230,AAI25231,Q08AD1 Hs.23585 KIAA1078|MGC150680|MGC150681|RP11-93N17.1 OTTHUMP00000033922|calmodulin-regulated spectrin-associated protein 1-like protein 1|calmodulin-regulated spectrin-associated protein 2 protein-coding 1318785 CAMTA1 calmodulin binding transcription activator 1 1580863 19851296,20125193,20198315,20379614,19336475,18210030,17470457,17222547,16710414,15709179,15138581,12964007,12477932,12168954,11925432,10048485,19913121,20628086 23261 NM_015215,AL157716,AL359881,AL365194,AL512330,AL590128,AL596210,AL683812,Z97635,Z98052,Z98884,AA757826,AB020640,AF111804,AK302088,AK309727,AW956937,AY037153,AY349360,BC038183,BC051341,BC116457,BC151835,BG027385,NM_001195563 NP_056030,CAH72663,CAI21790,CAH72347,CAI17064,CAI20961,CAI21596,CAI21433,BAA74856,AAL39006,BAG63475,AAK67633,AAQ56724,AAH51341,AAI16458,AAI51836,Q7Z7P1,Q96S92,Q9Y6Y1,NP_001182492 Hs.397705 KIAA0833 calmodulin-binding transcription activator 1 protein-coding 1322678 CAMTA2 calmodulin binding transcription activator 2 The protein encoded by this gene is a member of the calmodulin-binding transcription activator (CAMTA) protein family. CAMTA family members share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. CAMTA proteins may function as transcription factors that respond to calcium signaling by directly binding to calmodulin. This protein was shown to possess transcription activation activity in a transcription reporter system in yeast. Alternatively spliced transcript variants have been identified, but their full-length natures have not been determined. [provided by RefSeq] 1580863 12477932,11925432,10048485,16344560,16678087,17046230,17689537,16678093,15489334 23125 DB275145,NM_001171166,NM_001171167,NM_001171168,NM_015099,AC004771,AB020716,AK302528,AK307947,AK308666,AL831849,AL833974,BC010050,BC016163,BC032381,BC136534,BC142606,BC142695,BC144232,BC167148,BC167149,BC167151,BC167160,BI548947,CR606237 NP_001164637,NP_001164638,NP_001164639,NP_055914,BAA74932,BAG63801,CAD38553,CAD38818,AAH10050,AAH16163,AAH32381,AAI36535,AAI42696,AAI44233,AAI67148,AAI67149,AAI67151,AAI67160,O94983,Q8N5H1,ACE87486,ACE86799 Hs.632242 KIAA0909 calmodulin-binding transcription activator 2 protein-coding 733696 CAND1 cullin-associated and neddylation-dissociated 1 1559298 12504025,10581176,20562859,12609982,18826954,16344560,16303743,16036220,15537541,15489334,15208391,14702039,12504026,12477932,11230166,10931946,10048485,8954946,12207886,16964240,17439941,17643375,18173839,19615732,19668339 1559298 55832 NM_018448,AC012518,AC078983,CH471054,AB020636,AF157326,AK000976,AK001791,AK027404,AK027783,AK074922,AK096010,AK292456,AK314358,AL133560,AL136810,AL833880,BC004232,BC026220,BC050341,DB064887,DB098973,AK129780 NP_060918,EAW97171,EAW97172,BAA74852,AAF67492,BAG50842,BAG50975,BAB55090,BAB55365,BAF85145,BAG36990,CAB63714,CAB66744,CAD38737,AAH04232,AAH26220,AAH50341,Q86VP6,ACE87534,ACE86847 Hs.546407 DKFZp434M1414|FLJ10114|FLJ10929|FLJ38691|FLJ90441|KIAA0829|TIP120|TIP120A TBP interacting protein|TBP-interacting protein 120A|TBP-interacting protein of 120 kDa A|cullin-associated NEDD8-dissociated protein 1|cullin-associated and neddylation-dissociated protein 1|p120 CAND1 protein-coding 733192 CAND2 cullin-associated and neddylation-dissociated 2 (putative) 12692129,19159115,16641997,12207886,10441524,9734811,20736409,12477932 23066 NM_012298,AC034198,CH471055,AB014567,BC136592,BE256308,BX648800,DB471722,DR001490,GU727621,BX502783,NM_001162499,W44800 EAW64143,NP_036430,BAA31642,AAI36593,O75155,ADU87623,NP_001155971 Hs.343664 KIAA0667|TIP120B|Tp120b OTTHUMP00000209387|TBP interacting protein|TBP-interacting protein 120B|TBP-interacting protein of 120 kDa B|cullin-associated NEDD8-dissociated protein 2|cullin-associated and neddylation-dissociated protein 2|epididymis tissue protein Li 169|p120 CAND2|tbp-interacting protein tip120b protein-coding 1346126 CANDN1 candidiasis, nail 1 (with ICAM1 deficiency) 12205111,12774035 338434 1348972 CANT1 calcium activated nucleotidase 1 631908,1580863 12761501,18451133,18222531,18067325,16303743,15489334,15248776,15006348,14702039,12600208,12477932,12234496,12167635,12676900,15211652,19853239,19948975 631908 124583 NM_138793,NM_001159772,NM_001159773,AC073624,AC100788,CH471099,CQ783584,AB097006,AB097033,AF328554,AJ312208,AK026161,AK074687,AK295930,BC005104,BC017655,BC065038,BC118563,CR601688,CR602471,DC355691,NG_016645 NP_620148,NP_001153244,NP_001153245,EAW89548,EAW89549,EAW89550,EAW89551,EAW89552,EAW89553,EAW89554,EAW89555,CAF86751,BAC77359,BAC77386,AAM94564,CAC85468,BAC11139,BAG58716,AAH05104,AAH17655,AAH65038,Q8WVQ1 Hs.8859,Hs.720661 DBQD|SCAN-1|SCAN1|SHAPY Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase|apyrase homolog|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|putative MAPK-activating protein PM09|putative NF-kappa-B-activating protein 107|soluble Ca-activated nucleotidase, isozyme 1|soluble calcium-activated nucleotidase 1|soluble calcium-activated nucleotidase SCAN-1 protein-coding 737068 CANX calnexin This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 2314284,1580863 16169070,16546175,17215244,17220478,17387721,17467700,17872946,18029348,19524015,19801547,19815548,20202930,10929008,18303019,10364201,9717723,9642293,9545232,9528938,9525969,9312001,9295027,9110174,9050874,9024687,8910335,8662691,8621641,8619474,8551575,8549676,8486646,8278814,8163531,1326756,1286667,10873786,11054427,8790377,8550632,10364189,12582175,11765911,7513695,15105504,10461883,10436013,20528919,8136357,8055875,14966132,19054761,18791162,18716059,18417615,18367207,17728248,17395585,17203246,17170088,17081983,17081065,16938437,16858427,16565220,16304048,16061483,16002696,15923638,15557823,15537650,15489334,15467828,15261665,15236594,15231748,15161937,14980518,14732708,14732231,14498830,12805210,12643545,12610306,12610305,12562843,12507291,12477932,12383251,12359150,12239218,12222674,12208510,12119418,12052826,11851433,11756446,11751874,11583625,11566319,11506858,11350933,10636893,10601334,20506117,20720009 2314284 821 BC042843,BC050534,CR609178,CR613697,L10284,L18887,M94859,M98452,NM_001024649,AC113426,CH471165,AF070646,AJ271880,AK129990,AK130080,AK294702,AK304420,AK312334,BC003552,NM_001746 AAH03552,AAH42843,AAA36125,AAA21013,AAA21749,AAA35696,P27824,Q6ZP56,ABM92244,ABM84720,NP_001737,NP_001019820,EAW53802,EAW53803,EAW53804,EAW53805,CAB72137,BAC85269,BAG57859,BAG65250,BAG35255 Hs.567968 CNX|FLJ26570|IP90|P90 OTTHUMP00000223184|calnexin|major histocompatibility complex class I antigen-binding protein p88 protein-coding 1349457 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. [provided by RefSeq] 1580863,2326238 20471030,7962207,1406678,19188911,18716285,18671965,17900295,16807684,16710414,16341674,16289162,15489334,15311924,14702039,12665801,12477932,11950878,9373149,8761950,8125298,20416077 2326238 10487 NM_006367,NM_001105530,AL512599,CH471059,AK096193,AK222513,AK295396,AK297829,AK298094,AK298110,AK300861,AK315731,BC013963,BC020367,BC095440,BI460362,BM772471,BP391532,BT007152,CR457409,CR611821,L12168,M98474 NP_006358,NP_001099000,CAI11011,CAI11012,CAI11013,CAI11014,CAI11015,CAI11016,CAI11017,CAI11018,CAI11019,CAI11020,CAI11021,CAI11022,EAX07239,EAX07240,EAX07241,EAX07242,EAX07243,EAX07244,EAX07245,BAD96233,BAG58350,BAG60165,BAG60379,BAG60395,BAG62510,BAG38086,AAH13963,AAH95440,AAP35816,CAG33690,AAA35507,AAA35648,Q01518,Q5T0R1,Q5T0R2,Q5T0R3,Q5T0R4,Q5T0R5,Q5T0R6,Q5T0R7,Q5T0R8,Q5T0R9,ABM81586,ABM84766 Hs.370581,Hs.713078 CAP|CAP1-PEN CAP 1|adenylyl cyclase-associated protein 1 protein-coding 733378 CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq] 1580863 7962207,18391951,17000669,15489334,15231748,12477932,8761950,20936779 10486 AL034372,AL138824,CH471087,AI928000,AK293134,AK294215,AK295600,AK297538,AK308461,AK312362,AL832154,BC008481,BF791244,BI667914,CR457022,CR609661,U02390,NM_006366 NP_006357,CAC26824,CAI12250,EAW55380,BAH11460,BAH11700,BAH12121,BAH12609,BAG35280,CAI46134,AAH08481,CAG33303,AAA20587,P40123,Q5JPJ8,Q9BYW9,ABM92205,ABM84679 Hs.132902 2810452G09Rik|CAP 2|OTTHUMP00000214354|OTTHUMP00000214357|OTTHUMP00000214358|adenylyl cyclase-associated protein 2 protein-coding 1346127 CAP2P1 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 353163 NG_002772,AL157736,AL357093 pseudo 1323330 CAPG capping protein (actin filament), gelsolin-like This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed, but have not been fully described. [provided by RefSeq] 1580863 7814409,1322908,19166812,19011242,18938132,18709641,18461482,18266911,18237446,18059028,17081065,16767159,15489334,15454578,12754261,12637565,12477932,11694586,9373149,9160743,8125298,7851883,18029348,19188659,19242827,19439302 822 NM_001747,AC062037,CH471053,U12026,AK130130,AK225374,AK225378,AK300507,AK309290,AK313898,BC000728,BC014549,BU626913,CR603008,CR604518,CR607458,CR613753,CR613943,CR615009,M94345 NP_001738,AAY24128,EAW99517,EAW99518,EAW99519,EAW99520,AAA92670,BAG62220,BAG36621,AAH00728,AAH14549,AAA59570,P40121,ABM83089,ABM86283 Hs.516155 AFCP|MCP OTTHUMP00000203059|OTTHUMP00000203060|OTTHUMP00000203061|OTTHUMP00000203063|actin regulatory protein CAP-G|actin-regulatory protein CAP-G|gelsolin-like capping protein|macrophage capping protein|macrophage-capping protein protein-coding 736980 CAPN1 calpain 1, (mu/I) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. [provided by RefSeq] 1626249,1580863 15935327,8702541,19457105,18823990,18806756,18793761,18726991,18498295,18468730,18165173,18085799,18071073,18070881,18032503,17977825,17908236,17765980,17716656,17690304,17359359,17195093,17157313,17121855,16908521,16740134,16697376,16598790,16361262,16150694,16107503,15975558,15950654,15948206,15809056,15663601,15590628,15489334,15488707,15471877,15302874,15131115,14980313,14702039,14612448,12843408,12684003,12591934,12477932,12432277,12393869,12358155,12200134,12121992,12000759,11861304,11516996,10846184,10830966,10677567,10521480,9989581,9852298,9110986,8993318,8938448,8695851,8561910,8253784,7592818,7499244,7493986,3038169,3017764,2844821,2400579,2209092,1656060,8954122,16344560,20933204,20398180,20518497,10978167,16737952,18029348,18624772,19617626,19901552,19946330,20034566,20041182,20193680,20514436,20557290,20659425 1626249 823 NM_005186,AP003068,AY796340,CH471076,AK022319,AK025380,AK097277,AK301538,AK311001,AK315556,AY550975,BC008751,BC015091,BC017200,BC075862,X04366,BE018156,DA788342,DC372552,NM_001198868,NM_001198869,NM_001198870 NP_005177,AAV41878,EAW74366,EAW74367,EAW74368,EAW74369,EAW74370,EAW74371,BAG63037,BAG37932,AAT52221,AAH08751,AAH17200,AAH75862,CAA27881,P07384,ABM83831,ABM87599,NP_001185797,NP_001185798,NP_001185799 Hs.502842 CANP|CANP1|CANPL1|muCANP|muCL CANP 1|calcium-activated neutral proteinase 1|calpain 1|calpain mu-type|calpain, large polypeptide L1|calpain-1 catalytic subunit|calpain-1 large subunit|cell proliferation-inducing gene 30 protein|cell proliferation-inducing protein 30|micromolar-calpain protein-coding 732443 CAPN10 calpain 10 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM) and located within the NIDDM1 region. Multiple alternative transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1625063,737693,1625047,734686,1625046,1625049,1625050,1580863,4107073,4107074 20570542,20667559,20682687,12133483,12107745,12107735,12107250,12083814,12050223,12046551,11980626,11978669,11978665,11935160,11932299,11891618,11891023,11872216,11836299,11774208,11756349,11756346,11736815,11704924,11522685,11481585,11375982,11347906,11018080,11017071,9396712,12137596,19491387,19565864,19578796,19643578,19688040,19752882,19948975,20075150,20119856,20142250,20178008,20193213,20368234,20406624,20470430,18452715,18367022,18248681,18241614,18167206,17964829,17855447,17601994,17570749,17560157,17559371,17511963,17454172,17382509,17106059,16873988,16857402,16837224,16752174,16721485,16546286,16456802,16427731,16377260,16344560,16333311,16306378,16186407,16028216,15926113,15862281,15860244,15793266,15696376,15652721,15641690,15489334,15240652,15172858,14974344,14759258,14749261,14741193,14730479,14702039,14646187,14642065,14602801,14574648,14500039,12905623,12519860,12477932,12453914,12161543,12145185,12974673,17572128,15044459,15471947,19418728,19387820,19337008,19336475,19297292,19193380,19144693,18936436,18722363,18701098,18698425,18683748,18554168,18487065,11350192,20848425,20881413,20923526 1625063,737693,1625047,734686,1625046,1625049,4107073,4107074 11132 NM_023085,NG_011558,AC124862,AF158748,CH471063,AB058748,AF089088,AF089090,AF089091,AF089092,AF089093,AF089094,AF089096,NM_023083,AK027330,AK074807,AK128552,AK300279,BC004260,BC007553,BC107088,BI909439,DA623373,DB224752,AL558905,AU310002,BQ052841,BQ962770,DA413480 NP_075571,NP_075573,AAX88944,EAW71197,EAW71199,EAW71204,EAW71205,EAW71206,BAB47474,AAG17966,AAG17968,AAG17969,AAG17970,AAG17971,AAG17972,AAG17974,BAC11220,BAH13249,AAH04260,AAH07553,Q9HC96,ABM84445,ABM87502 Hs.728234 CANP10|NIDDM1 CANP 10|OTTHUMP00000201425|OTTHUMP00000201428|calcium-activated neutral protease|calcium-activated neutral proteinase 10|calpain-10|calpain-like protease CAPN10 2315054,2315066,2315772 GLUCO132_H,GLUCO131_H,GLUCO146_H protein-coding 1342957 CAPN11 calpain 11 Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq] 1580863 10409436,16541461,16344560,15489334,12477932,10340998,8070630,2479145 11131 NM_007058,AL365192,CH471081,AJ242832,AK300107,AK309883,AK314054,BC033733,BG721593,DB052011 NP_008989,CAI20532,EAX04250,EAX04251,EAX04252,EAX04253,CAB52137,BAG61902,BAG36761,AAH33733,Q9UMQ6 Hs.225953 calpain11 CANP 11|calcium-activated neutral proteinase 11|calpain-11 protein-coding 1316482 CAPN12 calpain 12 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN12 belongs to the calpain large subunit family.[supplied by OMIM] 14702039,12477932,10964513 147968 NM_144691,AC022144,CH471126,AK125713,AK127398,BC014027,BC040022,BE872274 NP_653292,EAW56813,EAW56814,EAW56815,EAW56816,BAC86959,Q6ZSI9,AAI40398,AAI53094 Hs.712632 MGC20576 CANP 12|calcium-activated neutral proteinase 12|calpain-12 protein-coding 1349624 CAPN13 calpain 13 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN13 belongs to the calpain large subunit family.[supplied by OMIM] 15815621,15489334,14702039,12477932,11675017,10964513,10737800,20379614,20591971 92291 NM_144575,AC092569,CH471053,AK026692,AK027176,AK074418,AK290298,AK308037,BC117345,BC117347,BM127691,BX476842,BX640793,BX647678 NP_653176,AAX82015,EAX00491,EAX00492,EAX00493,BAB85075,BAF82987,AAI17346,AAI17348,CAE45878,Q6MZZ7,ADR83092 Hs.660911 FLJ23523 CANP 13|OTTHUMP00000201117|OTTHUMP00000201118|calcium-activated neutral proteinase 13|calpain-13 protein-coding 1352333 CAPN14 calpain 14 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM] 14702039,11675017,10964513 440854 NM_001145122,AC015980,AL121657,AA743820,AK092257,AK296910,DC347418 NP_001138594,BAG52511,BAH12453,A8MX76 Hs.468059 FLJ54788 CANP 14|calcium-activated neutral proteinase 14|calpain-14 protein-coding 732800 CAPN2 calpain 2, (m/II) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. [provided by RefSeq] 1626249,1580863 10978167,17643375,19422794,19720936,19752040,19756344,19861418,19946123,20041182,20070945,20150423,20193680,20379614,20453000,9873017,2209092,1527057,1067155,8954122,11483505,16598790,16530191,16436382,16361262,16344560,16310784,15950654,15817486,15590481,15489334,15471877,15302874,14980313,14976200,14702039,14688278,12783889,12665801,12477932,12150984,12130691,12070670,12000759,11853546,11673052,11517928,11387205,11023826,10944468,10830966,10671558,10666632,9562261,9407132,9337844,9213221,8900201,8561910,3038169,2852952,2539381,10639123,19074885,18568448,18340456,18332219,18032503,17650508,17596297,17359359,17261541,17192410,16816119,16652152,19913121,20628086,20618160,20729206 1626249 824 NM_001146068,NM_001748,AC096542,AC099065,AY835586,CH471100,J04700,AB209855,AF261089,AI089162,AK023851,AK056838,AK097247,AK124751,AK297800,AK303952,AK315179,AK316211,BC007686,BC011828,BC021303,DA448245,M23254 NP_001139540,NP_001739,AAV80421,EAW93249,EAW93250,EAW93251,AAA52760,BAD93092,AAF99682,BAG53441,BAC85936,BAG60139,BAG64879,BAG37620,BAH14582,AAH07686,AAH11828,AAH21303,AAA35645,P17655,Q59EF6,Q6ZVC6,ABM84238,ABM84546,ABW03605 Hs.350899 CANP2|CANPL2|CANPml|FLJ39928|mCANP CANP 2|M-calpain|calcium-activated neutral proteinase 2|calpain 2|calpain 2, large [catalytic] subunit|calpain 2, large subunit|calpain M-type|calpain large polypeptide L2|calpain, large polypeptide L2|calpain-2 catalytic subunit|calpain-2 large subunit|millimolar-calpain 2289325 BW86_H protein-coding 731876 CAPN3 calpain 3, (p94) Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq] 69795,734687,1600769,1600777,1580863 20860623,20517216,10068445,9873017,9771675,9763216,9762961,9655129,9396712,9266733,9246005,9185618,9150160,8624690,8537379,2555341,2209092,8954122,20634290,10229226,9642272,7720071,19386580,19074885,19048948,18974005,18676612,18563459,18337726,18334579,18310072,18299526,18258189,18073330,17979987,17702496,17596655,17585039,17318636,17157502,16971480,16934440,16627476,16533054,16290124,16189514,16141003,16107503,15827562,15725583,15689361,15489334,15351423,15324660,15221789,15073171,14981715,14702039,14675785,14583192,14506720,12882647,12482600,12477932,12461690,12075569,11485017,10987085,10330340,18854869,19556129,20139084,20533264,20635405 69795,734687,1600769,1600777 825 BC100782,BC100783,BC100784,BC107791,BC128605,BC146649,BC146672,BT007322,EU791850,EU791851,X85030,BC067126,NM_212465,NM_000070,NM_024344,NM_173087,NM_173088,NM_173090,NM_173089,NG_008660,NR_027911,NR_027912,AC012651,AF209502,AY902237,AB117940,AB117941,AB117942,AF127764,AF127765,AF147441,AK027249,AK097401,AK293792,AK308103,BC003169,BC003521,BC004883,BC007810,FB775530,FB775532,FB775534,FB775536,FB775538,FB775540,FB775542 AAH67126,AAI00783,AAI00784,AAI00785,AAI07792,AAI28606,AAI46650,AAI46673,AAP35986,ACI63187,ACI63188,CAA59403,P20807,AAH07810,Q496N2,NP_997630,NP_000061,NP_077320,NP_775110,NP_775111,NP_775113,NP_775112,AAL40183,AAW69391,BAD16649,BAD16650,BAD16651,AAD28253,AAD28254,BAG53466,BAG57205,AAH03169,AAH03521,AAH04883,Q762C6,Q762C7,Q762C8,Q7L4R0,Q9BQC8,ACE87440,ACE86752,CAV30722,CAV30723,CAV30724,CAV30725,CAV30726,CAV30727,CAV30728 Hs.143261 CANP3|CANPL3|LGMD2|LGMD2A|MGC10767|MGC11121|MGC14344|MGC4403|nCL-1|p94 CANP 3|OTTHUMP00000161194|OTTHUMP00000161196|calcium-activated neutral proteinase 3|calpain 3|calpain L3|calpain p94, large [catalytic] subunit|calpain, large polypeptide L3|calpain-3|muscle-specific calcium-activated neutral protease 3 large subunit|new calpain 1 protein-coding 731758 CAPN5 calpain 5 Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq] 635266,1580863 9339374,18829447,18787380,18657264,17227582,16396936,15489334,15464980,14702039,12477932,11517927,11168679,9503024,9367857,8889548,19913121,20628086,19734545,19948975,20200332 635266 726 NM_004055,AP000752,CH471076,AB209087,AK092880,AK094150,AK128124,AK129588,AK310978,AK313132,BC018123,BM679546,U94346,Y10552 NP_004046,EAW75014,EAW75015,EAW75016,BAD92324,BAG52829,BAC87282,BAC85188,AAH18123,AAC51869,CAA71584,O15484,Q59GM2,Q6ZPC4,Q6ZRM8,ABM82528,ABW03388 Hs.248153 FLJ46245|HTRA3|nCL-3 calpain htra-3|calpain-5|new calpain 3 protein-coding 734276 CAPN6 calpain 6 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. It also lacks critical active site residues and thus is suggested to be proteolytically inactive. [provided by RefSeq] 635266,1580863 8163008,9339374,9503024,18657900,15772651,15489334,12477932,10340998,16344560,20414141,8401585,19913121,20628086 635266 827 NM_014289,A98730,AL031117,AY800242,CH471120,AF029232,AJ000388,AK300340,AK312701,BC000730,CR603979,CR607180,L32067,AA368247,DA863483,NG_015962 NP_055104,CAB70568,CAA19965,AAV41896,EAX02650,EAX02651,AAB86605,CAA04051,BAG62085,BAG35579,AAH00730,Q9Y6Q1,ABM82777,ABM85967 Hs.496593 CANPX|CAPNX|CalpM|DJ914P14.1 calpain-6|calpain-like protease X-linked|calpamodulin protein-coding 1312532 CAPN7 calpain 7 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq] 1580863 12477932,11342116,14702039,20849418,10051333,8889548,8163008 23473 NM_014296,AC087590,CH471055,AB028639,AK093742,AK314253,BC056202,BI464220,BM974327,BX502535 NP_055111,EAW64223,EAW64224,BAA78730,BAG36919,AAH56202,Q7Z479,Q9Y6W3 Hs.595234 CALPAIN7|FLJ36423|PALBH calpain like protease|calpain-7|homolog of Aspergillus Nidulans PALB|palB homolog protein-coding 736537 CAPN8 calpain 8 632482 17646163,16344560,16341674,12477932,11523006,11516996,11329013,8889549,7690035 632482 388743 NM_001143962,AC099065,CR628412,CR848842,BC157893,BG187068,BM739137,BM843240,DA874912 NP_001137434,CAM28354,CAM28355,CAM45846,AAI57894,A6NHC0 Hs.291487 nCL-2 calpain-8|new calpain 2|stomach-specific M-type calpain protein-coding 731611 CAPN9 calpain 9 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 724622,734688,1580863 9524069,19074885,17157313,12477932,11516996,10835488,9917325,8561910,20379614,20453000 724622,734688 10753 NM_006615,NM_016452,AL512328,AL591291,AY874864,CH471098,AB038463,AF022799,AK298024,AK309039,AK313629,BC027993 NP_006606,NP_057536,CAI17214,CAI17215,AAW49735,EAW69920,EAW69921,EAW69922,BAA92137,AAB80762,BAG60326,BAG36389,AAH27993,O14815,Q6PIV8 Hs.498021 GC36|nCL-4 calpain 9 (ncl-4)|calpain-9|digestive tract-specific calpain|new calpain 4|novel calpain large subunit-4 2289325 BW86_H protein-coding 735486 CAPNS1 calpain, small subunit 1 Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863 17643375,18761085,19942621,20107320,8702541,10639123,18029348,18544539,18234454,16169070,15611136,15489334,15057824,12684003,12591934,12477932,12358155,12121983,11673052,11517928,11516996,10737800,10666632,10661889,9326644,9110174,8619474,8561910,3024120,3016651,2209092,1656060,20419804,19913121,20628086 826 NM_001749,NM_001003962,AC002984,AD001527,AY789642,M31501,M31511,X64180,X64190,AK289606,AY007141,BC000592,BC007779,BC011903,BC017308,BC018931,BC021933,BC023643,BC064998,BF822052,BQ898664,BT009775,CR590756,CR591634,CR594230,CR596086,CR596279,CR599368,CR600941,CR601153,CR607029,CR612316,CR613280,CR615251,CR615374,CR616510,CR617252,CR624490,CR625540,CR625596,X04106 NP_001740,NP_001003962,AAB81546,AAB51183,AAV40829,AAA35646,BAF82295,AAH00592,AAH07779,AAH11903,AAH17308,AAH18931,AAH21933,AAH23643,AAH64998,AAP88777,CAA27726,P04632 Hs.515371 30K|CALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1 CANP small subunit|calcium-activated neutral proteinase small subunit|calcium-dependent protease small subunit 1|calcium-dependent protease, small subunit|calpain 4, small subunit (30K)|calpain regulatory subunit|calpain small subunit 1|calpain, small polypeptide protein-coding 1345503 CAPNS2 calpain, small subunit 2 1580863 17207965,15489334,12477932,11853546,15590481,19913121,20628086 84290 NM_032330,AC007336,CH471092,AY052551,BC005397,BC006000 ADQ32630,NP_115706,EAW82830,AAL02241,AAH05397,AAH06000,Q96L46,ACE87747 Hs.660027 MGC12536|MGC14804 CSS2|calcium-dependent protease small subunit 2|calpain small subunit 2 protein-coding 1313896 CAPRIN1 cell cycle associated protein 1 1580863 17353931,7657653,17210633,16177067,15471883,14764709,12477932,11060040,8786113,12183049,18029348,20516077,19250063,20696395 4076 BR000867,NM_005898,NM_203364,AC090469,CH471064,X89572,AF086078,AK127972,AK299720,BC001731,BC015700,BC026302,BK001101,BK001104,CR604520,CR621284,CR625420,Z48042 FAA00692,NP_005889,NP_976240,EAW68176,EAW68177,EAW68178,EAW68179,EAW68180,CAA61751,BAG54610,BAG61620,AAH01731,DAA01118,DAA01121,CAA88096,Q14444,ABW03810,ABW03918,ABW03502 Hs.471818 GPIAP1|GPIP137|M11S1|RNG105|caprin-1|p137GPI GPI-anchored membrane protein 1|GPI-anchored protein p137|GPI-p137|RNA granule protein 105|activation/proliferation-associated protein 1|caprin 1|caprin-1|cell cycle-associated protein 1|cytoplasmic activation- and proliferation-associated protein 1|cytoplasmic activation/proliferation-associated protein-1|membrane component chromosome 11 surface marker 1|membrane component, chromosome 11, surface marker 1 protein-coding 1604605 CAPRIN2 caprin family member 2 20516077,14593112,18762581,16094384,14764709,14702039,12477932,11347906 65981 NM_023925,NM_001002259,AC010198,CH471094,AB058776,AF326778,AF525416,AK021453,AK024247,AK026222,NM_032156,AL834212,AY074490,AY074491,BR000870,BC007520,BC025420,BC066295,BC111007,BC117672,BC117673,BK001102,BK001103,BQ010043,BX537569,BX538080 NP_115532,NP_076414,NP_001002259,EAW96608,EAW96609,EAW96610,EAW96611,EAW96612,EAW96613,EAW96614,EAW96615,EAW96616,BAB47502,AAK83153,AAP80792,BAB13830,BAB15398,AAL71549,FAA00695,AAL71550,AAH66295,AAI11008,AAI17673,AAI17674,DAA01119,DAA01120,CAD97786,CAD98004,Q149P6,Q6IMN6,Q7Z3P8,Q7Z5L1,Q96JF4 Hs.234355 C1QDC1|EEG-1|EEG1|FLJ11391|FLJ22569|KIAA1873|MGC102894|MGC134847|MGC134848|RNG140|caprin-2 C1q domain containing 1|C1q domain-containing protein 1|RNA granule protein 140|caprin-2|cytoplasmic activation/proliferation-associated protein 2|gastric cancer multidrug resistance-associated protein|protein EEG-1 protein-coding 1348480 CAPS calcyphosine This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq] 1580863 20468064,2540953,19275752,18775726,18729184,15489334,15057824,12477932,9373149,9224948,9125191,8889548,8125298,2265558 828 NM_080590,AC004602,AC104532,CH471139,CS300742,CS300743,AK090469,AK226026,AW510425,BC011961,BC019065,BC080599,BC101513,BC104766,BG768134,BU689238,CR601253,CR623055,X97966,NM_004058 NP_004049,NP_542157,AAC14484,EAW69125,EAW69126,EAW69127,EAW69128,CAK32406,CAK32407,BAC03450,AAH11961,AAH80599,AAI01514,AAI04767,CAA66609,Q13938,Q8NF12,Q96ET4 Hs.584744 CAPS1|MGC126562 calcyphosin|calcyphosine 1|thyroid protein p24 protein-coding 1320373 CAPS2 calcyphosine 2 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM] 15489334,14702039,14530279,12477932,11846421,1184642 84698 NM_032606,AC091534,AC092552,AC121761,CH471054,AF251056,AF351611,AK091839,AK092274,BC033860,BC056672,BC131724 NP_115995,EAW97296,EAW97297,EAW97298,EAW97299,EAW97300,AAK34946,AAN76511,BAC03845,AAH56672,AAI31725,Q9BXY5,BAC03759 Hs.407154 FLJ34520|UG0636c06 OTTHUMP00000202412|calcyphosin-2|calcyphosine-2|calcyphosphine 2 protein-coding 1601932 CAPSL calcyphosine-like 18563381,17554260,15489334,12477932,8889549,8889548 133690 NM_144647,NM_001042625,AC112204,CH471119,BC017586,BM975803,CD687387,W25222 NP_653248,NP_001036090,EAW55926,AAH17586,Q8WWF8 Hs.55150 MGC26610 OTTHUMP00000221227|OTTHUMP00000222243|calcyphosin-like protein protein-coding 1314786 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq] 1580863 8639502,8125298,1602151,7665558,17353931,16130169,9331217,18321953,16987810,16710414,16344560,15489334,12690097,12488317,12480931,12477932,12470955,9803314,9373149,9354614,9119363,19615732,19922875,16054028 829 NM_006135,AL603832,AL929470,CH471122,AK223226,AK289654,BC000144,BC034391,BT019364,BX648738,CR407657,CR541819,DB233456,U56637 NP_006126,CAI14054,CAI16528,EAW56525,EAW56526,EAW56527,BAD96946,BAF82343,AAH00144,AAV38171,CAG28585,CAG46618,AAC00533,P52907,ABM81680,ABM84845 Hs.727604 CAPPA1|CAPZ|CAZ1 Cap Z|F-actin-capping protein subunit alpha-1|capZ alpha-1 protein-coding 1352276 CAPZA1P capping protein (actin filament) muscle Z-line, alpha 1 pseudogene 11499681 53338 NG_001277,AF284769,AL024493 pseudo 1350794 CAPZA2 capping protein (actin filament) muscle Z-line, alpha 2 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq] 1580863 9373149,8125298,7665558,1602151,16054028,17353931,9331217,18029348,17567994,15489334,12853948,12690205,12665801,12477932,12029070,12470955 830 NM_006136,AC002543,CH236947,CH471070,AK222989,AK223004,AK293405,AK294409,AK311406,AK314808,AK315915,BC005338,BC015963,BI553815,BT006735,BX386541,CR590988,CR596187,CR601522,CR602265,CR603366,CR607571,CR613439,CR614626,CR615735,DQ655956,U03269,U03851 NP_006127,AAC60382,EAL24358,EAW83512,EAW83513,EAW83514,EAW83515,BAD96709,BAD96724,BAG56912,BAG57661,BAG37333,BAH14286,AAH05338,AAP35381,AAA88848,AAC00534,P47755,Q53GC7,Q53GE2 Hs.446123 CAPPA2|CAPZ F-actin capping protein alpha-2 subunit|F-actin-capping protein subunit alpha-2|capZ alpha-2 protein-coding 1353508 CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. 1580863 15489334,14702039,12477932,12029070,10524250,7957958,19913121,20628086 93661 NM_033328,AC087242,CH471094,AB053259,AK058174,BC016745,HC006864 NP_201585,EAW96391,BAB61901,BAB71703,AAH16745,Q96KX2,CBH19237 Hs.131288 CAPPA3|Gsg3 CP-alpha-3|CapZ alpha-3|F-actin capping protein alpha-3 subunit|F-actin-capping protein subunit alpha-3|germ cell-specific protein 3 protein-coding 1347618 CAPZB capping protein (actin filament) muscle Z-line, beta CAPZB is a member of the F-actin capping protein family. This gene encodes the beta subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq] 1580863 7665558,17353931,16130169,12477932,16710414,16678097,16169070,15489334,12665801,12488317,15146197,17643375,19615732,19922875,20379614,16054028,9331217 832 AL035413,AL359199,AL445163,CH471134,NM_004930,AK125085,AK301442,AK313113,BC008095,BC012305,BC024601,BC107752,BC109241,BC109242,BE870234,BQ009850,BT019470,BT019471,CR590504,CR591278,CR592519,CR594971,CR595642,CR596107,CR596559,CR600755,CR600840,CR603606,CR603675,CR603731,CR606068,CR608661,CR608903,CR609341,CR610963,CR614610,CR615786,CR615877,CR617401,CR619829,CR620413,CR620796,CR621111,CR621825,CR622138,CR622250,CR622513,U03271,BQ773230,CN273493 NP_004921,CAI22224,CAI22225,CAI22227,CAI22228,CAI22230,CAI22231,CAH72122,CAH72123,CAH72124,CAH71387,CAH71392,EAW94888,EAW94889,EAW94890,EAW94891,BAG62968,BAG35935,AAH08095,AAH24601,AAI07753,AAI09242,AAI09243,AAV38277,AAV38278,BAG54137,AAA87395,P47756 Hs.432760 CAPB|CAPPB|CAPZ|MGC104401|MGC129749|MGC129750 Cap Z|F-actin capping protein beta subunit|F-actin-capping protein subunit beta|OTTHUMP00000002652|OTTHUMP00000002653|OTTHUMP00000002654|OTTHUMP00000002656|OTTHUMP00000002657|capZ beta protein-coding 1312685 CARD10 caspase recruitment domain family, member 10 The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM] 1580863 11259443,15125833,19112107,18757306,18676680,18349075,17724468,17101977,15489334,15184390,14702039,12477932,11387339,11356195,10591208,20237496,19913121,20628086,20695076,20800603 29775 AL022315,AL049851,CH471095,AF086324,AK057334,AK074906,AK296176,AY028896,AY032928,BC032058,BC113659,BC117403,NM_014550 NP_055365,CAI19345,CAI23165,EAW60163,BAC11282,BAH12273,AAK26165,AAK54454,AAI13660,AAI17404,Q17RA1,Q8NC81,Q9BWT7 Hs.57973 BIMP1|CARMA3|MGC142219 Bcl10 binding protein and activator of NFKB|CARD-containing MAGUK 3 protein|CARD-containing MAGUK protein 3|OTTHUMP00000197888|carma 3|caspase recruitment domain-containing protein 10 protein-coding 1319685 CARD11 caspase recruitment domain family, member 11 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq] 1580863 16825666,17047224,17293856,19444310,19706536,20164171,20237496,8889549,9847074,20544211,21172665,11278692,16809782,12154360,15122200,15125833,15541657,17468049,19104039,18625728,18323416,18231929,17428801,17287217,16520020,16508008,16356856,16356855,16301747,15802604,15184390,14739370,14702039,14673152,12690205,12477932,12356734,12154356,11356195,11259443,20799731 84433 NM_032415,AC004906,AA594170,AW139089,NG_027759,AC024028,AC092689,CH236953,CH471144,AA194010,AF322641,AF352576,AK074049,AK097139,BC111719 NP_115791,AAQ96893,EAL23962,EAW87276,EAW87277,EAW87278,EAW87279,AAG53402,AAL34460,BAB84875,AAI11720,Q9BXL7 Hs.648101 BIMP3|CARMA1|MGC133069 CARD-containing MAGUK protein 1|bcl10-interacting maguk protein 3|card-maguk protein 1|carma 1|caspase recruitment domain-containing protein 11 protein-coding 1350189 CARD14 caspase recruitment domain family, member 14 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein shares a similar domain structure with CARD11 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. Two alternatively spliced variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 11278692,16189514,15489334,14702039,12477932,11356195,11259443,18029348,19851296,20198315,20237496 79092 NM_024110,NM_052819,AC087741,CH471099,AF322642,AK002138,AK054723,AK091123,AK296762,AK309299,AY032927,BC001326,BC018142,EU652409 NP_077015,NP_438170,EAW89586,EAW89587,EAW89588,EAW89589,AAG53403,BAG59342,AAK54453,AAH01326,AAH18142,ACF49506,Q9BXL6 Hs.675480,Hs.696253 BIMP2|CARMA2 CARD-containing MAGUK 2 protein|CARD-containing MAGUK protein 2|bcl10-interacting maguk protein 2|card-maguk protein 2|carma 2|caspase recruitment domain-containing protein 14 protein-coding 1606185 CARD16 caspase recruitment domain family, member 16 16920334,16354923,15383541,14702039,12477932,11821383,11536016,19913121,20628086,11432859 114769 NM_001017534,NM_052889,AP001153,CH471065,AF367017,AK125640,AK311902,AY885669,BC033638,BC070196,BC104635,BC117478,BC117480 NP_001017534,NP_443121,EAW67062,AAK71682,BAG34843,AAW78563,AAI17479,AAI17481,Q5EG05,AAI41474,AAI48761 Hs.348365 COP|COP1|PSEUDO-ICE CARD only domain-containing protein 1|CARD only protein|caspase recruitment domain-containing protein 16|caspase-1 dominant-negative inhibitor pseudo-ICE|caspase-1 inhibitor COP|pseudo interleukin-1 beta converting enzyme|pseudo interleukin-1beta converting enzyme protein-coding 1605176 CARD17 caspase recruitment domain family, member 17 15383541 440068 NM_001007232,AP001153,CH471065,AY761064 NP_001007233,EAW67064,AAV28630,Q5XLA6,AAI46364 Hs.44102 INCA Inhibitory CARD|caspase recruitment domain-containing protein 17|caspase-1 inhibitor INCA|inhibitory caspase recruitment domain (CARD) protein|inhibitory caspase recruitment domain protein protein-coding 1605643 CARD18 caspase recruitment domain family, member 18 11051551,15383541,12975309,12477932,11821383,21048031 59082 NM_021571,AP003181,CH471065,AF208005,AI189838,AY358231,BC131610,AW295205 NP_067546,EAW67065,AAG23528,AAQ88598,AAI31611,P57730 Hs.56279 ICEBERG|UNQ5804|pseudo-ICE ICEBERG caspase-1 inhibitor|caspase recruitment domain-containing protein 18|caspase-1 inhibitor Iceberg protein-coding 1314062 CARD6 caspase recruitment domain family, member 6 This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq] 1580863 17081983,16582588,16418290,12775719,12477932,20025480 84674 NM_032587,AC008810,AC026732,CH471119,AB209844,AF356193,AK304349,AY196783,BC093825 NP_115976,EAW56006,BAD93081,AAK32718,BAG65193,AAP40637,AAH93825,Q59EG7,Q6XZE5,Q9BX69 Hs.200242 CINCIN1 CARD-containing inhibitor of Nod1 and Cardiak-induced NF-kB activation|caspase recruitment domain protein 6|caspase recruitment domain-containing protein 6 protein-coding 1351599 CARD8 caspase recruitment domain family, member 8 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq] 1580863 20385562,15030775,11551959,19319132,19252766,19074885,18841008,18311798,18263599,18212821,18092344,17878386,17595233,17484912,17030188,16796750,15489334,12477932,12067710,11956601,11821383,11408476,10231032,12775719,19443463,19664744,19843337,19940360,20182451,20379614,20453000,16712791,20800603 22900 AC011466,CH471177,AB023172,AF143869,AF322184,AF331519,AF405558,AF511652,AK297045,AK297069,AK302327,NM_014959,AK311077,AK311079,AY026322,BC034564,BC041697,BC045539,BC046136,BC056891,BX641091,BX648568,CA448628,CR625326,EU118120,EU118121,EU118122,AI040349,CB119078,DC404273,NM_001184900,NM_001184901,NM_001184902,NM_001184903,NM_001184904,NR_033678,NR_033679,NR_033680,AC008392 NP_055774,EAW52319,EAW52320,EAW52321,EAW52322,EAW52323,EAW52324,EAW52325,BAA76799,AAG50014,AAK01126,AAL02427,AAM46959,BAH12482,BAH12488,BAH13675,AAK08982,CAE46043,ABW96891,ABW96892,ABW96893,Q6MZI8,Q9Y2G2,AAH45539,AAH56891,NP_001171829,NP_001171830,NP_001171831,NP_001171832,NP_001171833 Hs.446146,Hs.655940 CARDINAL|DACAR|DAKAR|DKFZp779L0366|Dakar|FLJ18119|FLJ18121|KIAA0955|MGC57162|NDPP|NDPP1|TUCAN CARD inhibitor of NF-kappaB-activating ligands|apoptotic protein NDPP1|caspase recruitment domain-containing protein 8|tumor up-regulated CARD-containing antagonist of CASP9|tumor up-regulated CARD-containing antagonist of caspase nine protein-coding 732385 CARD9 caspase recruitment domain family, member 9 The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq] 1299399,1580863 20228799,19809088,19864672,19915572,20237496,20463747,11053425,17187069,18439550,17936701,15489334,15164053,14702039,12477932,11259443,16189514,21102463 1299399 64170 CH471090,NG_021197,NM_052813,NM_052814,AL592301,AF311287,AK024001,AK127481,AK292081,AK295647,AK309043,BC008877,BC035805,BI524042,BM148244,CR603312 NP_434700,NP_434701,CAI13931,CAI13932,EAW88220,EAW88221,EAW88222,EAW88223,EAW88224,AAG28790,BAB14766,BAF84770,BAG58517,AAH08877,Q5SXM5,Q9H257,ABM84452,ABW03582,EAW88219 Hs.694071 CANDF2|hCARD9 caspase recruitment domain protein 9|caspase recruitment domain-containing protein 9 protein-coding 733909 CARHSP1 calcium regulated heat stable protein 1, 24kDa 1299427 12801884,9712905,17081983,16964243,16083285,15489334,15302935,14702039,12477932,11842224,15910284,16169070,12107410 1299427 23589 NM_014316,NM_001042476,AC022167,CH471112,AF115345,AK093698,AK311777,BC000782,BC001333,BC003366,BC108283,CA396216,CR590003 NP_055131,NP_001035941,EAW85196,EAW85197,EAW85198,EAW85199,AAD25021,BAG34720,AAH03366,AAI08284,Q9Y2V2,ACE87313,ACE86631 Hs.632184 CRHSP-24|CSDC1|MGC111446 calcium regulated heat stable protein 1|calcium-regulated heat stable protein 1|calcium-regulated heat-stable protein (24kD)|calcium-regulated heat-stable protein of 24 kDa protein-coding 1601864 CARKD carbohydrate kinase domain containing 16344560,14702039,12477932,11042152,9373149,8125298,20379614,20877624 55739 NM_018210,AL139385,CH471085,AF091088,AF151071,AK001631,AK024260,AK057767,AK058043,AK091867,AK093771,AK225129,AK296227,AK296758,AK298917,AK302117,AY203948,BC005150,BC006416,BC041028,CR624735,DA175011,DA815628 NP_060680,CAI17008,EAX09114,EAX09115,EAX09116,EAX09117,EAX09118,EAX09119,EAX09120,EAX09121,EAX09122,EAX09123,EAX09124,EAX09125,AAC72957,AAF36157,BAA91797,BAB14863,BAG52761,BAH12286,BAG59339,BAG61023,BAG63496,AAP34471,AAH41028,O95333,Q6XYC2,Q8IW45,Q9P0P1 Hs.408324 FLJ10769|FLJ34548|FLJ52550|LP3298 carbohydrate kinase domain-containing protein protein-coding 1314176 CARM1 coactivator-associated arginine methyltransferase 1 Protein arginine N-methyltransferases, such as CARM1, catalyze the transfer of a methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins to form methylated arginine derivatives and S-adenosyl-L-homocysteine. Protein arginine methylation has been implicated in signal transduction, metabolism of nascent pre-RNA, and transcriptional activation (Frankel et al., 2002 [PubMed 11724789]).[supplied by OMIM] 2293206,1359044,2326123 8619474,11050077,15186775,15383283,20213728,17898714,15221992,19183483,18950845,18660489,18172323,17882262,17640894,17218272,17043108,17005681,16923966,16705743,16497732,16330542,16254053,15944154,15731352,15616592,15489334,15471871,15096520,14500758,12498683,12477932,12374746,12237300,11850402,11751582,11724789,10381882,9110174,14966289,16344550,17124247,19725955,20360387,20462455,19188441,17053781,20932315 2293206,1359044,2326123 10498 NM_199141,AC007565,AC011442,CH471106,AF055027,AL833242,BC036886,BC046240,BC070496,BU176535,CR604934 NP_954592,EAW84155,EAW84156,AAH46240,Q86X55,AAI56436,AAI72490 Hs.323213 PRMT4 histone-arginine methyltransferase CARM1|protein arginine N-methyltransferase 4 protein-coding 1344005 CARM1L coactivator associated arginine methyltransferase 1-like 100130873 NG_009935,AL359077,AL589675 CAI12927 CARM1L|KIAA0020 pseudo 1321833 CARS cysteinyl-tRNA synthetase This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 18029348,19041431,19252134,20201924,20306291,20460425,17303165,10908348,7987009,16344560,15592455,15489334,14702039,12477932,12112524,11347887,9373149,8468064,8125298 833 AK295371,AK296763,AK298514,NM_001751,NM_001014437,AC108448,AC131971,CH471158,AB208814,AF288206,AF288207,AK096313,AK125503,NM_139273,AK126135,AK131221,AK222614,AK289432,AK302644,AK308005,AU133264,BC002880,BT009913,BX647906,CR598668,L06845,AI608729,NM_001194997,NR_036542,AI432096,DC376478 BAG58331,BAG59343,BAG60719,NP_644802,NP_001742,NP_001014437,EAX02536,EAX02537,EAX02538,EAX02539,EAX02540,EAX02541,BAD92051,AAG00578,AAG00579,BAG53256,BAD96334,BAF82121,BAG63885,AAH02880,AAP88915,CAI46108,AAA73901,P49589,Q53HG6,Q59HE5,Q5HYE4,ABM81699,NP_001181926 Hs.274873 CARS1|CYSRS|MGC:11246 cysteine tRNA ligase 1, cytoplasmic|cysteine translase|cysteine--tRNA ligase|cysteine-tRNA ligase|cysteinyl-tRNA synthetase, cytoplasmic protein-coding 1606504 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative) 20379614,20877624,16344560,15779907,15489334,15057823,14702039,12477932 79587 DA966145,NM_024537,AL139385,AL157820,CH471085,AB062436,AK022180,AK091992,AK092947,AK124505,AK301907,BC007220,BE464542,BX648882,BX649191,CR593997,CR594413,CR600317,CR605547,CR606350,CR613047,CR614128,CR615939,CR623160,CR626682 NP_078813,CAI17004,CAI16971,EAX09126,BAB93499,BAB13978,BAH13582,AAH07220,CAH10378,CAE46210,Q6AW83,Q6MZE5,Q9HA77 Hs.508725 DKFZp667A2315|DKFZp686G08243|FLJ12118|FLJ42514 cysRS|cysteine tRNA ligase 2, mitochondrial (putative)|cysteine--tRNA ligase|probable cysteinyl-tRNA synthetase, mitochondrial protein-coding 1605714 CARTPT CART prepropeptide CART appears to have roles in reward, feeding, and stress, and it has the functional properties of an endogenous psychostimulant (Kuhar et al., 2002 [PubMed 12147208]).[supplied by OMIM] 2313632,2313633,2313634,1625192 10235641,15908120,11711504,15680948,11478874,16614075,8647455,19356602,19110485,19086053,19077438,19058789,18572320,17631364,17525122,17105939,17008116,16309793,16210370,16146347,16102267,15823203,15597110,15489334,15340161,15326462,15234472,12654232,12477932,12147208,11857741,11791158,11522684,10905499,9590691,19913121,20628086,16784796,19874574,19876004,20151954,20186155,20362026,20468064,8889548 2313632,2313633,2313634,1625192 9607 NM_004291,AC143336,CH471084,U20325,AI417979,BC029882,CR542216,U16826,CK300473,NG_015988 NP_004282,EAW95694,AAB08011,AAH29882,CAG47012,AAB08010,Q16568,ACE87318,ACE86636 Hs.1707 CART cocaine and amphetamine regulated transcript|cocaine- and amphetamine-regulated transcript protein protein-coding 1322554 CASC1 cancer susceptibility candidate 1 737633 20734064,18299280,16410263,14702039,14583591,12477932,8889548,20639392 737633 55259 NM_001082972,NM_001082973,NM_018272,AC023510,AC092794,CH471094,AK001783,AK093102,AY423543,BC028415,BC031047,BC047415,BC057795,BC117281,BC117283,BM979714,AK297998,AK301763,AK302235,AK304602 NP_001076441,NP_001076442,NP_060742,EAW96507,EAW96508,EAW96509,BAA91908,BAG52654,AAQ93499,AAH28415,AAH47415,AAH57795,AAI17282,AAI17284,Q6TDU7,BAG60304,BAG63223,BAG63589,BAG65388 Hs.407771 FLJ10921|LAS1 OTTHUMP00000196570|cancer susceptibility candidate protein 1|lung adenoma susceptibility 1-like protein protein-coding 1349507 CASC2 cancer susceptibility candidate 2 15024726,14702039,12477932 255082 NR_026939,NR_026940,NR_026941,AC005879,AC022395,CH471066,AI219353,AJ344228,AJ535620,AJ535621,AJ535622,AK055184,AY226450,AY226451,BC036393,BC112306,BC112308,BC112326 EAW49419,EAW49420,EAW49421,EAW49422,CAC83044,CAD59605,CAD59606,CAD59607,AAP48615,Q6XLA1,Q8IU53 Hs.89387 C10orf5|MGC117219 miscrna 1353876 CASC3 cancer susceptibility candidate 3 The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq] 1580863 12080473,18332872,17652158,17081983,16931718,16495234,16344560,16314458,16170325,15489334,15166247,14973490,14702039,12843282,12477932,11980659,7490069,15680326,18029348,16923391 22794 NM_007359,AC068669,CH471152,AK096126,AK292425,AK296682,AK310635,BC030008,BC044656,BC050526,CA427444,DB082647,X80199 NP_031385,EAW60643,EAW60644,BAF85114,BAG59278,AAH44656,AAH50526,CAC27699,O15234 Hs.727549 BTZ|MLN51 MLN 51|OTTHUMP00000164448|barentsz|cancer susceptibility candidate gene 3 protein|metastatic lymph node 51|metastatic lymph node gene 51 protein|protein CASC3|protein barentsz protein-coding 1603284 CASC4 cancer susceptibility candidate 4 The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Further characterization of the product of this gene may yield insight into the fundamental biology and pathogenetic effects of HER-2/neu overexpression in human breast and ovarian cancer cells. Alternatively spliced variants encoding different isoforms have been identified for this gene. 16344560,17207965,14702039,12975309,12845212,12764679,12477932,10497265 113201 BI467176,DB229269,NM_138423,NM_177974,AC025043,AC090519,CH471082,AF103804,AK022565,AK095068,AK098265,AK291026,AL832333,AL832840,AY358086,BC012124,BC041786,BC063480,BG327802,AK298564 ADQ32536,NP_612432,NP_816929,EAW77257,EAW77258,EAW77259,EAW77260,EAW77261,EAW77262,EAW77263,EAW77264,BAC05272,BAF83715,AAQ88453,AAH12124,AAH63480,Q6P4E1,Q8N7K6,BAG60758 Hs.512867,Hs.701849 DKFZp459F1927|H63|MGC74708 cancer susceptibility candidate gene 4 protein|gene associated with HER-2/neu overexpression|protein CASC4 protein-coding 1603976 CASC5 cancer susceptibility candidate 5 15231748,20231380,15502821,15579588,10980622,18771174,18045986,17981135,17081983,16565220,12618768,12618766,12477932,12087463,10997877,10780384,8700511,15371340 57082 NM_170589,NM_144508,AC022405,CH471125,AB022190,AB046790,AF173994,AF248041,AF461041,AK307605,AK307996,BC014306,BC029373,BC043597,BQ776141,U52052 NP_733468,NP_653091,EAW92429,EAW92430,BAC05691,BAB13396,AAM45143,AAF97513,AAL67803,AAH29373,Q05C46,Q8NG31,AAI72422 Hs.181855 AF15Q14|CT29|D40|KIAA1570|KNL1|hKNL-1|hSpc105 ALL1-fused gene from chromosome 15q14 protein|blinkin, bub-linking kinetochore protein|bub-linking kinetochore protein|cancer susceptibility candidate gene 5 protein|cancer/testis antigen 29|kinetochore null 1 homolog|kinetochore-null protein 1|protein CASC5 protein-coding 1603612 CASD1 CAS1 domain containing 1 14702039,12477932,11703667,11528394 64921 NM_022900,AC002528,AC096662,CH236949,CH471091,AB073397,AF355594,AF397424,AK024866,AK025532,AK123866,AK123895,AK314329,BC029543,BC050313,BC063284 NP_075051,AAB69978,EAL24136,EAW76789,EAW76790,EAW76791,EAW76792,EAW76793,BAE45726,AAL33538,AAK97479,BAB15028,BAB15163,BAG53975,BAG36976,AAH63284,Q8WZ77,Q96PB1 Hs.260041 C7orf12|FLJ21213|FLJ21879|FLJ41901|NBLA04196 CAS1 domain-containing protein 1|O-acetyltransferase|WUGSC:H_GS542D18.2 protein-coding 733678 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) The CASK gene encodes a calcium/calmodulin-dependent serine protein kinase that is a member of the membrane-associated guanylate kinase (MAGUK) protein family. MAGUKs are scaffolding proteins associated with intercellular junctions (Atasoy et al., 2007 [PubMed 17287346]).[supplied by OMIM] 734690,1580863 16688213,19615732,19736351,19781660,19847910,20006588,11120739,20623620,9660868,19200522,19165920,19125693,18664494,18629876,18423203,17287346,16842202,16637659,15694377,15673434,15331416,15066269,15024025,14960569,14702039,14627983,12641734,12522552,12511555,12477932,12351654,12202822,12151522,12151521,12110687,12093160,12040031,12006486,11880184,11742811,11679592,11377421,11356864,11036064,11003712,10993877,10856295,10749215,10460248,9952408,9822620,9753324,9722958,9660869,9546224,9225980,8786425,19019082,12676536,15729360,10455105,20029458 734690 8573 NG_016754,BC143456,NM_001126054,NM_003688,AL158144,AL353691,AL445239,AL603754,AL627402,CH471141,AB039327,AB208859,AF032119,AF035582,AF262404,AF262405,AK025872,AK056476,AK313399,AY705392,BC029936,BC035990,BC117311,BC143454,NM_001126055,DN993605 CAI42244,CAI42245,CAI42246,CAI42247,CAI42248,NP_001119527,NP_001119526,NP_003679,CAI42762,CAI42763,CAI42764,CAI42765,CAI42766,CAI41090,CAI41091,CAI41092,CAI41093,CAI41094,CAI41095,CAI41096,CAI41633,CAI41634,CAI41635,CAI41636,CAI41637,CAI41638,CAH71237,CAH71238,CAH71239,CAH71240,CAH71241,EAW59390,EAW59391,EAW59392,EAW59393,BAB12252,BAD92096,AAB88125,AAB88198,AAF72666,AAF72667,AAU10527,AAI17312,AAI43455,ADR83272,AAI43457,O14936,Q5JS79 Hs.495984 CAGH39|CAMGUK|CMG|FGS4|FLJ22219|FLJ31914|LIN2|MICPCH|TNRC8 OTTHUMP00000023157|OTTHUMP00000023161|OTTHUMP00000023162|calcium/calmodulin-dependent serine protein kinase|calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase|hCASK|peripheral plasma membrane protein CASK|protein lin-2 homolog|trinucleotide repeat containing 8 protein-coding 1351061 CASKIN1 CASK interacting protein 1 632380,1580863 14968112,15032605,12040031,12477932,10718198,20881960 632380 57524 AC009065,CH471112,AB037727,AF451977,BC042011,NM_020764 NP_065815,EAW85543,EAW85544,EAW85545,BAA92544,AAL49758,AAH42011,Q3ZCT2,Q8WXD9 Hs.643537 ANKS5A CASK-interacting protein 1|caskin-1 protein-coding 1320238 CASKIN2 CASK interacting protein 2 632380,1580863 12040031,17081983,16344560,16094384,15592455,15489334,12477932,10574461 632380 57513 NM_020753,NM_001142643,AC100787,CH471099,AB032965,AF451976,AK025262,AK300354,AK315936,BC032359,BC066643,DA336467,DA538297,DC318119 NP_065804,NP_001136115,EAW89278,BAA86453,AAL49757,BAG62095,BAH14307,AAH66643,Q8WXE0 Hs.274408 ANKS5B|FLJ21609|KIAA1139 caskin-2 protein-coding 1344893 CASKP calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 12815422 10029 NG_002805,AC004474 CASKP pseudo 735988 CASP1 caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing of this gene results in five transcript variants encoding distinct isoforms. [provided by RefSeq] 2293624,2315884,2298754,2315887,2315889,2315890,2315892,2315913,2315919,2315886,2315888,2315917,2315883,1580863,1300048 7876192,7797510,7721861,7642516,1919001,1574116,1321594,15749123,9548463,9002959,8962078,8035875,8034320,10477277,16780720,16903774,16817903,16785446,16778130,16621994,16428475,16405550,16260731,16123779,16087165,16037825,15809717,15561713,15498465,15489334,15471361,15383541,15326478,15296730,15039421,15030775,14669344,14584052,12692130,12628757,12477932,12459463,12387869,12215842,12191486,12170183,12096920,12019269,11997061,11967258,11953316,11821383,11536016,11472070,11438643,11437653,11432859,11390368,11226410,11085743,10708425,10660263,10510468,10438581,10329646,10069390,9990034,9987822,9894612,9875225,9830039,9804161,9792675,9727491,9705938,9705209,9632733,9593687,9535906,9435230,9373149,9334338,9334240,9250871,9219695,9190289,9115219,9070648,8999548,8978814,8861900,8125298,8044845,12459189,10799503,10353249,12888622,15107016,16575408,12761501,1373520,18029348,19439663,19414860,19382257,19269008,19258923,19141860,19117953,19074885,18981155,18828051,18799371,18590738,18577712,18550243,18523309,18329368,18304957,18263805,18263705,18209072,17959595,17703412,17623017,17597823,17477815,17418785,17360653,17303764,17196042,17173859,17036048,16920334,19573080,19648107,19737897,19773279,19779610,19833722,20038581,20048342,20170165,20184726,20197547,20402676,20503287,19913121,20485444,20628086,17207965,20808838,20060974,20855536,20959405,21037509,21048031,21052690 2293624,2315884,2298754,2315887,2315889,2315890,2315892,2315913,2315919,2315886,2315888,2315917,2315883 834 NM_033292,NM_033295,NM_033294,NM_033293,AP001153,CH471065,AA761907,AB102878,AK223503,AK290114,AK290122,AK296646,AK301037,NM_001223,AK313516,AK310059,AY660536,BC041689,BC062327,CR592117,M87507,U13697,U13698,U13699,U13700,X65019 NP_001214,NP_150634,NP_150637,NP_150636,NP_150635,EAW67057,EAW67058,EAW67059,EAW67060,EAW67061,BAD89407,BAD97223,BAF82803,BAF82811,BAG59246,BAG62650,BAG36296,AAT72297,AAH41689,AAH62327,AAA66942,AAC50107,AAC50108,AAC50109,AAC50110,CAA46153,P29466,Q5FBZ0,ADQ32141 Hs.2490 ICE|IL1BC|P45 CASP-1|CASP1 nirs variant 1|IL-1 beta-converting enzyme|IL-1BC|IL1B-convertase|caspase 1|caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)|caspase-1|interleukin 1-B converting enzyme|interleukin 1-beta convertase|interleukin-1 beta convertase|interleukin-1 beta-converting enzyme protein-coding 1347736 CASP10 caspase 10, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with apoptosis defects seen in type II autoimmune lymphoproliferative syndrome. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 2314187,1580863 15280356,17159907,17479112,19166881,19170196,19380486,19550122,19604093,19625176,19641626,19692168,19773279,19784808,19826114,19861680,19900088,19902255,20025484,20402676,20453000,8755496,10412980,11717445,11048727,19423537,19414860,19269008,19219602,19141860,19074885,18823309,18716417,18676680,18563783,18381704,17999750,17822854,17623017,17534194,17450141,17085968,17071630,16767158,16446975,16251207,16186808,15772077,15767684,15735701,15500642,15452117,15069192,14761933,14759258,14688482,14687710,12887920,12527898,12477932,12388546,12198154,12037669,12010812,11973654,11583996,11395500,11161814,11098060,10734073,10716992,10432301,10187817,9792675,9373149,9337844,9325248,9289491,9228018,9208847,9153302,9045686,8962078,8521391,8125298,3031469,1171445,170210,11002417,15659383,11832478,20800603,20802294,20855536,20959405,20978178,21048031,20644561,20661084 2314187 843 NM_032974,NM_032977,NM_001230,NG_007265,AB038979,AC007283,CH471063,AF111344,AF111345,AI696103,AJ487678,AJ487679,AK225475,AK304859,AK310746,AY690601,BC042844,U60519,U86214,EF050529 NP_116756,NP_116759,NP_001221,BAB32553,BAB32554,AAY24291,EAW70247,EAW70248,EAW70249,EAW70250,EAW70251,AAD28402,AAD28403,CAD32371,CAD32372,BAG65597,AAU00989,AAH42844,AAC50644,AAB46730,Q68HC0,Q92851,ABJ53426 Hs.5353 ALPS2|FLICE2|MCH4 CASP-10|FADD-like ICE2|FAS-associated death domain protein interleukin-1B-converting enzyme 2|ICE-like apoptotic protease 4|OTTHUMP00000206551|apoptotic protease MCH-4|caspase 10, apoptosis-related cysteine protease|caspase-10|interleukin-1B-converting enzyme 2 protein-coding 1348077 CASP12 caspase 12 (gene/pseudogene) Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene, CASP12, is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. [provided by RefSeq] 2311450,2311451,2311485,1299333,2311466,2311453,2311461,2311467,2311449,2311454,2311455,2311458,2311470 20577092,19447924,18791174,18332441,17574210,16917906,16532395,15129283,15033764,14532116,12975309,12054529,9038361,11278723,11943137,11329013,19721713,20031604,20041182,20299359,20299368,20423816,20646990 2311450,2311451,2311485,1299333,2311466,2311453,2311461,2311449,2311454,2311455,2311458,2311470 120329 NR_000035,AP002004,AF464191,AF464192,AF464193,AF464194,AF464195,AF486844,AF486845,AF486846,AF486847,AY358222,BG183061,NM_001191016,NR_034061,NR_034063,NR_034064,NR_034065,NR_034066,NR_034067,NR_034068,NR_034070,NR_034071 AAQ88589,Q6UXS9,NP_001177945 Hs.476989 CASP-12|CASP12P1 caspase 12|inactive caspase-12 protein-coding 1342676 CASP13 caspase 13, apoptosis-related cysteine protease 9624166 338022 AF078533 1323414 CASP14 caspase 14, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq] 1580863 10203698,19414860,19269008,18762957,18424262,17436577,17359582,16854378,16168224,16061862,16061209,15619438,15489334,15331408,12477932,12445205,12200134,12181750,11175259,11121154,11062009,9823333,9792675,1286667,17207965,20533828,16341674,17558860,19573080,19615732,19747408,19773279,19960512,20237496,20402676,20562859 23581 AF097874,AK313992,BC069541,BC103868,BC103869,EU262664,EU502748,BM840054,NM_012114,AC004699,CH471106 AAD16173,BAG36704,AAH69541,AAI03869,AAI03870,ABX83060,ACA63845,P31944,ADQ32904,NP_036246,EAW84459 Hs.466057 MGC119078|MGC119079 CASP-14|apoptosis-related cysteine protease|caspase 14, apoptosis-related cysteine protease|caspase-14 protein-coding 1604850 CASP2 caspase 2, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The proteolytic cleavage of this protein is induced by a variety of apoptotic stimuli. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq] 4107076,4107080 11278287,11830582,12787561,19573080,19604093,19715609,19730412,19738422,19773279,19935698,20208132,20402676,20453000,11076957,11156409,9044836,19453261,19414860,19347032,19269008,19203584,19074885,18840686,18418048,18413747,18375382,18238895,18166155,17945178,17637755,17627033,17195089,17159900,17079734,16843824,16822901,16777994,16652156,16387548,16227610,16193064,16172118,15843892,15817479,15735701,15590671,15555560,15511269,15500642,15489334,15297885,15262979,15173176,15073321,14716300,14702039,14701762,14647455,14623896,14584591,12920126,12853948,12837286,12598307,12584573,12477932,12477715,12193789,12145703,12107826,12065594,11350957,11313953,10791974,10329646,9847074,9792675,9695946,9560245,9261102,9228018,8985253,8962078,12011445,11972030,11832478,11823470,11425872,11399776,8780721,8087842,8044845,7789948,14713958,20158568,20187765,16360037,10079193,16344560,17902043,20978129,20143425,20819778,20855536 4107076,4107080 835 NM_032983,AC073342,AY219042,CH236959,CH471198,AB209640,AF314174,AF314175,AK096245,NM_032982,AK291274,AK303265,AK303391,BC002427,BG397039,BM998653,BT007240,BX537669,CB988674,CR541748,CR591430,U13021,U13022,BQ447606,DA505883,DB455837,DB455840 NP_116764,NP_116765,AAP22346,AAP22347,AAP22348,AAP22349,AAO25653,EAW51863,EAW51867,EAW51870,BAD92877,AAK00299,AAK00300,BAF83963,BAG64347,BAG64447,AAH02427,AAP35904,CAG46548,AAA58959,AAA58960,P42575,Q9BZL0,ABM84746 Hs.368982 CASP-2|ICH-1L|ICH-1L/1S|ICH-1S|ICH1|NEDD-2|NEDD2 ICH-1 protease|NEDD-2|NEDD2 apoptosis regulatory|caspase-2|neural precursor cell expressed developmentally down-regulated protein 2|neural precursor cell expressed, developmentally down-regulated 2|protease ICH-1 protein-coding 731002 CASP3 caspase 3, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq] 71121,2313963,2293092,2313998,2314002,2298948,2293304,2293322,2311448,2293309,2293311,2314187,2293308,2311466,2311451,2311440,2311467,2311446,2293314,2298949,2293330,2311432,2311441,2311436,2293093,2293315,2293306,2293307,2293316,2314390,2311430,2311442,2311444,2311447,2311455,2293324,1300048,734693,734692,4143170,4143196,4143171 20492341,20566630,20683021,18723680,18712678,18708163,18676680,18658137,18623086,18586680,18577580,18561948,18521960,18473402,18450750,18441516,18439040,18427836,18415689,18415681,18384375,18381704,18379198,18298948,18297401,18296636,18266005,18256791,18256758,18227733,18211414,18209072,18171980,18164959,18155731,18155705,18088367,18086147,18083346,18060501,18058802,18055116,18054197,18047842,18000616,17989718,17983802,17981569,17978580,17950632,17936584,17908973,17880920,17805550,17724022,17721932,17698513,17689858,17645689,17616526,17606900,17606719,17597071,17559062,17544405,17534194,17525639,17505517,17495975,17462862,17437405,17436592,17430778,17413988,17412564,17379327,17364171,17324936,17321792,17301822,17272816,17245643,17235653,17219053,17217622,17198755,17172814,17167422,17143787,17141888,17130234,17124493,17123522,17121821,17118559,17114647,17071630,17065568,17038954,16320828,16300929,16242324,16227597,16213496,16203739,16179347,16121124,16080782,16009347,15996160,15935070,15869582,15848173,15843892,15803189,15748808,15748158,15716280,15705385,15670787,15657356,15657349,15638357,15637055,15617521,15599395,15569692,15569672,15569669,15564512,15542841,15505416,15489334,15473998,15375594,15345747,15280469,15254227,15246206,15241180,15220451,15205454,15200957,15187159,15178331,15156398,15153940,15098015,15087450,15041704,15033815,15033720,15015772,15014070,14991812,14982947,14976035,14971566,14970175,14960581,14764700,14710359,11274152,11261798,11257232,11248093,11230124,11222676,11175261,11162351,11162250,11149901,11098060,11084335,11058115,11053413,11042212,11024045,11016947,10998058,10926122,10896157,10821855,10799874,10791974,10777594,10770929,10734073,10713703,10712510,10708425,10675528,10672017,10671544,10629060,10611247,10608812,10602513,10602493,10579725,10564664,10556977,10510468,10479680,10469173,10454555,10438581,10435619,10432301,10409750,10364179,10319819,10205159,10205158,10200531,10103059,10082566,10069390,10066732,10022118,9990034,9933635,9894612,9878167,9875225,9857079,9850056,9811849,9799125,9786869,9751706,9708895,9705209,9694885,9685336,9671712,9660939,9632733,9618490,9593687,9545236,9535906,9525868,9452471,9422780,9395403,9384571,9368003,9367996,9361003,9351817,9348292,9337844,9334338,9334240,9323209,9298992,9267021,9252332,9235961,9233763,9230442,9219695,9208847,9206994,9115219,9045680,9021152,8943232,8900201,8812467,8804412,8780721,8755496,8696339,8673606,8626669,8605870,8044845,7983002,7774019,7596430,1067155,16330530,16897667,16520893,17140287,16480911,11462036,16111829,14993250,14555204,12190962,12019321,11141237,14684629,14678329,14674699,14657946,14623896,14612448,14572611,14570914,12897143,12874324,12867600,12854132,12837287,12833566,12824190,12809603,12804035,12792782,12788938,12788227,12760639,12750404,12750393,12707329,12700660,12700630,12686427,12677451,12657644,12643601,12621124,12611892,12606589,12605885,12598529,12581734,12579342,12576443,12576296,12566444,12515825,12511568,12490308,12483536,12477932,12444137,12438416,12425945,12401855,12397210,12393901,12390838,12297281,12235123,12228224,12210761,12207967,12186978,12181742,12181128,12169388,12151338,12150947,12149654,12145703,12124386,12118383,12112012,12107159,12095993,12080079,12070657,12070005,12055227,12044963,12036886,12032677,12004072,11992386,11989976,11988074,11981455,11972398,11960384,11948397,11927604,11904443,11901153,11875078,11866986,11859414,11854437,11840332,11825902,11815631,11802788,11795487,11788610,11787859,11752060,11748221,11741893,11696595,11675509,11602184,11555640,11551979,11550094,11526478,11517310,11514563,11509621,11479289,11478781,11470874,11447297,11438643,11437602,11425872,11423904,11420704,11399776,11387340,11356849,11345898,11331419,11283607,11278797,11278782,11278572,11278424,11278283,10430052,9548463,16511342,16338743,16120388,15725353,15578977,12404116,15179054,15767427,11123279,11177389,15204919,11752215,11170436,11359776,11002417,8962078,11832478,9326610,15806167,15735701,15706351,10862606,15650747,15258591,15186778,10704341,20042134,20512574,20632819,20947770,20150439,16083554,19730442,19770576,19770581,20038816,20424172,20962079,10942389,9353287,9736630,11350920,12888622,10521396,8976194,9624143,10490026,10748026,10823823,11106668,11313965,11500511,17823127,11689006,16983089,18029348,9108473,11076937,16286477,19610261,19573080,19531679,19519609,19513559,19453261,19414860,19404232,19355923,19299722,19289465,19283487,19281794,19272183,19270727,19269008,19266703,19244543,19241192,19223905,19219602,19204086,19200347,19178812,19159073,19157506,19157504,19141860,19132366,19074885,19058789,19052714,19046417,19043361,18986328,18838202,18829519,18821563,18820371,18818379,18814044,18768468,18763039,18759060,18754867,17023557,17013758,17013756,16977583,16955788,16949642,16948902,16935258,16931214,16894574,16884727,16882668,16835231,16808908,16802364,16791842,16787777,16781734,16716256,16689860,16651613,16567804,16530191,16530181,16529748,16526059,16516911,16505307,16498457,16455648,16382148,16344560,16337360,20580881,20667824,20862799,10899937,11278287,11830582,12787561,16204230,16501604,16979168,17080552,18844072,18946722,19170196,19351510,19544333,19549685,19550122,19553679,19557639,19559790,19567200,19585117,19598027,19604093,19625176,19626422,19636556,19655253,19655415,19665028,19692168,19698994,19715609,19723039,19724860,19724907,19738422,19759058,19773279,19774677,19784808,19788069,19788411,19807657,19826114,19838207,19854241,19937139,19942343,19956888,19996122,19996272,19996275,19996278,20001963,20025478,20041182,20045442,20068062,20072652,20085765,20101263,20103643,20104682,20142237,20198319,20227371,20299368,20307198,20383567,20402676,20423928,20453000,9278461,9334214,16463650,20063052,20839416,21123558,20619728,20702410,19913121,20180022,20450729,20530714,20628086,20644561,20661084,20855536,20959405,21048031 71121,2313963,2293092,2313998,2314002,2298948,2293304,2293322,2311448,2293309,2293311,2314187,2293308,2311466,2311451,2311440,2311446,2293314,2298949,2293330,2311432,2311441,2311436,2293093,2293315,2293306,2293307,2293316,2314390,2311430,2311442,2311444,2311447,2311455,2293324,734693,734692,4143170,4143196,4143171 836 HI179110,HI179112,NM_032991,NM_004346,AC073932,AC079257,AY219866,CH471056,CQ786438,AJ413269,AK291337,AU127028,AU133051,BC016926,BU753483,BX647609,CR620420,U13737,U13738,U26943,GM887507 CBX53863,CBX53864,NP_116786,NP_004337,AAO25654,EAX04673,EAX04674,EAX04675,EAX04676,CAG17895,CAC88866,BAF84026,AAH16926,CAI46084,AAA65015,AAB60355,AAA74929,P42574,Q5HYI3,ABM82469,ABM85657,CAV28500 Hs.141125 CPP32|CPP32B|SCA-1 CASP-3|CPP-32|OTTHUMP00000165053|OTTHUMP00000165055|PARP cleavage protease|SREBP cleavage activity 1|Yama|apopain|caspase 3, apoptosis-related cysteine protease|caspase-3|cysteine protease CPP32|procaspase3|protein Yama protein-coding 1343162 CASP4 caspase 4, apoptosis-related cysteine peptidase This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 19573080,19773279,20237496,20402676,20453000,17353931,7743998,7797510,19414860,19269008,18056395,18029041,17942194,16920334,15975932,15500642,15489334,15326478,15146197,15123740,14702039,12477932,12096920,10872455,10477277,10329646,10069390,9875225,9792675,9694885,9539746,9373149,20855536,20514521,9250871,9233763,8962078,8125298,7797592,1919001,11927604 837 NM_001225,NM_033306,A48861,AP001153,AP002004,CH471065,EF636667,AI128358,AK057094,AK225751,AK296081,AK304222,AL050391,BC008060,BC017839,CN261701,CR595643,CR596626,CR601555,CR609637,CR613155,CR622245,U25804,U28014,U28976,U28977,U28978,U28979,Z48810 NP_001216,NP_150649,CAA03154,EAW67050,EAW67051,EAW67052,EAW67053,ABR09278,BAG51861,BAG58837,BAG65094,CAB43686,AAH17839,AAA86890,AAA75171,AAC99850,AAC99851,AAC99852,AAC99853,AAC99854,CAA88750,O95601,P49662,Q7KYX7,Q9UG96,ABM82909,ABM86099 Hs.138378 ICE(rel)II|ICEREL-II|ICH-2|Mih1/TX|TX CASP-4|ICE(rel)-II|apoptotic cysteine protease Mih1/TX|caspase 4, apoptosis-related cysteine protease|caspase-4|protease ICH-2|protease TX protein-coding 1351672 CASP5 caspase 5, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 19203830,19074885,18430458,17676485,16893518,16886895,15886296,12964016,12853457,12479849,12477932,12191486,11535131,11356849,10986288,10872455,9894612,9298992,9250871,8617266,19269008,20855536,17418785,7797592,19414860,19270026,19604093,19773279,20237496,20379614,20402676,20434535,19573080,20635389 838 NM_001136110,NR_024239,NM_001136109,NM_001136112,NM_004347,AP001153,CH471065,DQ508420,AK296660,BC074994,BC113406,DQ228672,DQ228673,DQ228674,DQ228675,DQ228676,DQ228677,DR005081,U28015,W60703,X94993,NR_036562 NP_001129582,NP_001129581,NP_001129584,NP_004338,EAW67054,EAW67055,EAW67056,ABF47103,BAG59257,AAH74994,AAI13407,ABB58698,ABB58699,ABB58700,ABB58701,ABB58702,ABB58703,AAA75172,CAA64450,P51878,Q0QVY9 Hs.213327 ICE(rel)III|ICEREL-III|ICH-3|MGC141966 CASP-5|ICE(rel)-III|TY protease|caspase 5, apoptosis-related cysteine protease|caspase-5|protease ICH-3|protease TY protein-coding 732006 CASP6 caspase 6, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants that encode different isoforms. [provided by RefSeq] 2301331,1582381,2301336,2301314,2301320,2301337,2301338,2301316,2301332,2301339,1300048 11016947,11859414,18029348,18946722,19573080,19694615,19773279,19897582,19915487,20332099,20402676,20427671,20437871,8710882,7983002,15103018,11832478,16169070,15200957,14713958,21098228,20661084,12888622,7796396,19414860,19269008,19219602,19052714,19022247,18820706,18762957,18497562,18155731,17392160,16977583,16948818,16518869,16341674,16135563,16123779,15735701,15654952,15511269,15500642,15489334,15356202,15321985,15280469,15273717,12477932,12232792,12145703,12089322,12052891,11953316,11901153,11802788,11514563,11463840,11438643,11423904,11387340,11356849,11331782,11262188,11246070,11098060,10770929,10734073,10655504,10481058,10469173,10438520,10432301,10409650,10205159,10069390,9990034,9933635,9857079,9593687,9463409,9337844,9298992,9228018,9219695,8978814,8962078,8900201,8812467,8780721,20606168,20682790,20855536,20702410 2301331,1582381,2301336,2301314,2301320,2301337,2301338,2301316,2301332,2301339 839 NM_032992,NM_001226,AC004067,AY254046,CH471057,BC000305,BC004460,BM837197,CR616049,U20536,U20537 NP_116787,NP_001217,AAO63494,EAX06244,EAX06245,AAH00305,AAH04460,AAC50168,AAC50169,P55212,ABM85515,ABW03757 Hs.654616 MCH2 CASP-6|apoptotic protease MCH-2|caspase 6|caspase 6, apoptosis-related cysteine protease|caspase-6 protein-coding 1298347 CASP7 caspase 7, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of this caspase is cleaved by caspase 3 and 10. It is activated upon cell death stimuli and induces apoptosis. Alternative splicing results in four transcript variants, encoding three distinct isoforms. [provided by RefSeq] 734511,2314187,1580863,4143196,4143171 20566630,12665508,12888622,8567622,8576161,9325343,9922454,11257231,19269008,19241192,19219602,19141860,19058873,19052714,19022247,18785314,18708163,18596415,18521960,18459962,18086147,18072206,17978580,17880920,17697120,17532763,17504820,17094969,17023557,16918502,16498457,16344560,16213496,16123041,15735701,15650747,15511269,15500642,15489334,15033720,14623896,14584591,14583630,12970753,12951057,12824163,12804035,12586738,12477932,12181742,12145703,12107159,11943137,11904443,11859414,11829465,11815631,11802788,11755217,19414860,19323650,11752425,11555640,11535131,11514563,11448953,11425872,11423904,11399776,11387340,11359776,11356849,11278572,11257230,11170436,11084335,11058599,11024045,10998058,10791974,10731697,10675528,10564664,10469173,10318789,10200531,10082581,10069390,9990034,9894612,9850056,9671712,9607320,9593687,9535906,9525868,9384571,9373149,9337844,9323209,9230442,9228018,9219695,9070923,8962078,8812467,8780721,8755496,8631895,8521391,8125298,7983002,1056466,11257232,11832478,15580265,10862606,15200957,14713958,9298992,20800603,20819778,20855536,20959405,19770576,20468060,11016947,11420704,11875078,16385451,19531679,19573080,19581639,19604093,19605487,19617626,19655253,19738422,19759058,19773279,19782763,19826114,19996278,20159985,20379614,20402676,20453000,19913121,20567846,20628086,20661084 734511,2314187,4143196,4143171 840 NM_033340,NM_033338,NM_033339,NM_001227,AL592546,AL627395,CH471066,AB451281,AB451413,AK223489,AK298964,AK300578,AK301437,AU130224,BC015799,BP429646,BQ007179,BT006683,BX487250,BX647973,CR591113,U37448,U37449,U39613,U40281,U67206,U67320,GM887522 NP_203126,NP_203124,NP_203125,NP_001218,CAI12638,CAI12639,CAI12640,CAI16004,CAI16005,CAI16006,EAW49494,EAW49495,EAW49496,EAW49497,EAW49498,BAG70095,BAG70227,BAG61059,BAG62277,BAG62964,AAH15799,AAP35329,AAC50303,AAC50304,AAC50346,AAC50352,AAF21460,AAC51153,P55210,Q5SVL2,ABM92231,ABM84695,ACE87380,ACE86696,CAV28504 Hs.9216 CMH-1|ICE-LAP3|MCH3 CASP-7|ICE-like apoptotic protease 3|Lice2 alpha/beta/gamma|OTTHUMP00000020511|OTTHUMP00000020513|OTTHUMP00000020514|apoptotic protease MCH-3|caspase 7 isoform delta|caspase 7, apoptosis-related cysteine protease|caspase-7 protein-coding 730846 CASP8 caspase 8, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq] 2311427,2311428,2311429,2311245,2311439,2311319,2311430,2311431,2314002,2314187,2311435,2311436,734696,734695,1580863,1300048,2315744,1624191,2317230,4143170,4143196,4143171 20572163,11016947,11260720,16183855,16497673,16936772,17159907,18245485,18328427,18455983,19170196,19345995,19372376,19521670,19528225,19531679,19542541,19543235,19550122,19573080,19597472,19617217,19625176,19629679,19644511,19665028,19684859,19692168,19698994,19710364,19738422,19773279,19795398,19801665,19807657,19826114,19843670,19852930,19854135,19902255,19923319,19954364,19996275,20005201,20033885,20044137,20080300,20086182,20145138,20150972,20176653,20198319,20237344,20308068,20353946,20363033,20402676,20443055,20453000,20471133,20502973,9027312,8681376,11717445,14644197,11048727,11101870,12761501,10521396,18029348,10891503,9721089,10894160,12804595,12887920,19492233,19470771,19453261,19427028,19414860,19412632,19318553,19289465,19276244,19269008,19260109,19239323,19219602,19214744,19214542,19203830,19166881,19160091,19152111,19141860,19124506,19122169,19115040,19112091,19111387,12052891,12041673,12037669,12021264,12010809,11992615,11965497,11933563,11917123,11877293,11865194,11788820,11772515,11752160,11751897,11751056,11741396,11735112,11734564,11733517,11683038,11583996,11555640,11514563,11479289,11437602,11431480,11423904,11420686,11406564,11395500,11387340,11340079,11264300,11181075,11161814,11102441,11101867,11098060,11085743,11002417,11000244,10964557,10926122,10911620,10860845,10734073,10716992,10708425,10616217,10508784,10493725,10469173,10442631,10438581,10435619,10235259,10069390,9990034,9971775,9931493,9878167,10432301,9875225,9804161,9792675,9763668,9727492,9727491,9632733,9624166,9575181,9560245,9539746,9380701,9337844,9334338,9325248,9289491,9271594,9228018,9219695,9208847,9184224,9006941,8962078,8755496,8681377,8521391,7983002,3031469,170210,12404116,15578977,15142380,11177389,19060883,18570872,15659383,12911633,9774341,11832478,16169070,11741985,9326610,15383280,10329646,14993214,14991747,14982947,14982875,14970175,14759258,14701762,14688019,14644092,14625033,14584591,14560027,14522966,13679856,12960156,12912912,12888622,12841868,12754217,12750404,12750393,12748179,12738800,12721308,12707329,12702723,12700660,12700635,12692130,12668660,12646168,12620239,12598529,12527898,12507932,12496482,12496481,12477932,12438416,12393901,12353035,12232792,12218097,12215447,12198154,12196516,12191471,12189238,12170765,12131184,12122017,12107169,12107159,12097160,12096338,12095993,12065591,12220669,9535906,14713958,20132554,20811726,20951133,20013803,20356928,20403046,20565257,19913121,20143425,20398055,20554749,20605201,20628086,20644561,20652397,20661084,20677014,20804486,19432816,19770581,19094228,19074885,19048627,19048023,19001123,18974049,18840411,18823701,18823309,18796435,18728974,18725521,18716417,18691973,18684943,18676836,18676680,18675369,18632964,18617900,18603835,18596409,18563783,18516683,18485876,18483392,18473402,18458084,18431743,18398042,18381704,18362937,18343995,18324486,18305469,18216014,18161513,18158779,18097748,18089800,18089778,18086677,18076022,18054197,18045865,17940865,17932347,17911615,17891485,17726263,17684142,17666167,17627287,17626072,17623017,17616526,17599062,17585337,17572490,17545522,17534194,17532763,17525260,17450141,17436592,17378240,17337451,17314102,17293864,17290218,17272309,17224200,17182797,17170703,17071630,17064406,17047155,17030903,17018785,16951203,16938569,16886176,16762833,16733806,16722146,16636047,16633737,16619028,16607283,16556893,16541419,16538383,16528386,16478725,16446372,16436380,16397500,16374545,16344560,16251207,16242324,16227629,16225956,16193064,16186808,16179941,16179347,16135563,16036110,15976052,15956881,15906362,15849201,15815621,15782135,15760909,15746428,15735742,15735701,15701651,15650242,15645452,15640164,15637055,15611097,15601643,15592525,15592455,15531912,15509781,15507484,15492869,15489334,15476874,15473998,15390286,15389560,15369772,15289853,15280356,15262979,15254227,15210716,15205454,15159409,15111130,15069192,15067048,15034549,15024054,15015772,20564345,20799830,20978129,20379197,20937773,21166494,20033750,20808443,20613771,20702410,20606168,20800603,20802294,20819778,20855536,20877624,20959405,20978178,21048031 2311427,2311428,2311429,2311245,2311439,2311319,2311430,2311431,2314002,2314187,2311435,2311436,734696,734695,2315744,1624191,2317230,4143170,4143196,4143171 841 EU670044,U58143,U60520,X98172,X98173,X98174,X98175,X98176,X98177,X98178,NM_001080124,NM_033355,NM_033358,NM_001080125,NM_033356,NG_007497,AB038985,AC007256,AC007283,AF102139,AF102140,AF102141,AF102142,AF102143,AF102144,AF102145,AF102146,AF207672,CH471063,DQ355026,AA312258,AB451282,AB451414,AF009620,AF380342,AF422926,AF422927,AF422928,AF422929,AI351872,AK310630,AL600571,AL601594,AL702116,BC010390,BC017031,BC028223,BC068050,BG498355,BX395849,CB990598,DA420056,DB157537,EU168332,NM_001228,HA637638,HI179126,HI179128,HI179130,HI179132 ACF93415,AAC50602,AAC50645,CAA66853,CAA66854,CAA66855,CAA66856,CAA66857,CAA66858,CAA66859,Q14790,Q6NVI2,Q9HBU4,NP_001219,NP_001073593,NP_203519,NP_203522,NP_001073594,NP_203520,BAB32555,AAY24225,AAD24962,AAG10682,EAW70253,EAW70254,EAW70258,EAW70262,ABC67468,BAG70096,BAG70228,AAB70913,AAK57437,AAL87629,AAL87630,AAL87631,AAL87632,AAH68050,ABX09989,CAZ39541,CBX53871,CBX53872,CBX53873,CBX53874 Hs.599762 ALPS2B|CAP4|Casp-8|FLICE|FLJ17672|MACH|MCH5|MGC78473 FADD-homologous ICE/CED-3-like protease|FADD-like ICE|ICE-like apoptotic protease 5|MACH-alpha-1/2/3 protein|MACH-beta-1/2/3/4 protein|MORT1-associated ced-3 homolog|OTTHUMP00000163720|OTTHUMP00000165063|OTTHUMP00000206557|OTTHUMP00000206581|apoptotic cysteine protease|apoptotic protease Mch-5|caspase 8, apoptosis-related cysteine protease|caspase-8 protein-coding 1314005 CASP8AP2 caspase 8 associated protein 2 This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein. 10235259,12477726,15698540,19414860,18677100,18408764,18038312,17696945,17245429,17003126,17003125,16627760,15592525,15489334,15342556,14702039,12477932,12168954,11340079,10718198,10537104,20936779,19406988,19546234,19573080,19615980,19773279,19854135,20109966,20237496 9994 NM_001137667,NM_001137668,AL353692,CH471051,AB037736,AF154415,AF164678,AF165161,AJ420582,AK002070,BC012574,BC027850,BC029386,BC042577,NM_012115,BC056685,BC132828,BC132830,BC150274,BP192859,BP363682 NP_036247,NP_001131139,NP_001131140,CAI16238,CAI16239,EAW48540,EAW48541,EAW48542,EAW48543,EAW48544,BAA92553,AAF03367,AAD45537,AAD45157,BAA92067,AAH42577,AAH56685,AAI32829,AAI32831,AAI50275,Q5T791,Q5T792,Q9UKL3 Hs.558218 CED-4|FLASH|FLJ11208|KIAA1315|RIP25 CASP8 associated protein 2|CASP8-associated protein 2|FLASH homolog RIP25|FLICE associated huge|FLICE-associated huge protein|OTTHUMP00000016860|human FLASH protein-coding 69147 CASP9 caspase 9, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspase APAF1; this step is thought to be one of the earliest in the caspase activation cascade. Alternative splicing results in two transcript variants which encode different isoforms. [provided by RefSeq] 2313963,2313998,2314002,2314187,2311432,2311244,2311320,2311322,2311466,2315928,2315929,2311430,2311245,2311436,2311319,2311246,2311321,2315933,2314390,2315930,2290492,1580863,1300048 20490276,9390557,11069302,9812896,9922454,19465923,19414860,19412632,19359048,19269008,19238172,19219602,19183163,19159073,19141860,19081073,19074885,19058789,19052714,19016842,18840411,18814044,18813792,18723680,18676680,18632964,18415681,18381704,18297401,18202770,15725353,15578977,12404116,15767427,11832478,11113115,16189514,15262985,15200957,15829969,16120388,19153467,20013803,20667824,18083711,18054197,17899380,17893147,17715156,17626072,17534194,17466630,17437405,17379327,17299206,17291493,17285546,17079734,17071630,17030903,16895904,16780893,16716256,16710414,16689829,16687442,16505493,16505307,16337360,16300929,16287866,16260615,16242324,16181301,16038259,15935070,15811855,15735701,15703181,15674327,15657349,15657060,15629764,15500642,15489334,15485396,15485395,15473998,15300255,15280366,15273730,15220451,15214043,14993223,14991812,14982875,14747474,14701803,14684629,14634335,14566819,12954616,12914932,12804035,12792650,12782307,12749848,12732844,12637514,12620239,12620238,12586738,12566444,12477932,12393884,12393263,12372609,12147322,12145703,12096338,12095993,12055227,12021264,11948397,11927604,11919192,11905052,11870543,11803376,11801603,11801602,11734640,11514563,11423904,11408476,11390657,11387340,11350957,11248093,18086147,11242052,11230124,11084335,11076957,11024045,10708425,10671558,10469173,10438581,10384055,10376594,10329646,10187815,10070954,9990849,9890966,9878060,9837928,9671712,9651578,9545235,9539746,9488720,9337844,9323209,8962078,8900201,8663294,7983002,1067155,16520893,17140287,11462036,16511342,16480911,19770581,16497673,16936772,16979168,19170196,19550122,19573080,19625176,19626422,19655415,19692168,19724860,19741144,19758996,19773279,19789190,19807657,19826114,19906200,20022954,20071584,20227371,20357690,20379614,20402676,20453000,20978129,19913121,20628086,20644561,20650551,20661084,20804486,15749826,20800603,20855536,20887385,20959405,21048031,20227384,16344560,17207965,20042134 2313963,2313998,2314002,2314187,2311432,2311244,2311320,2311322,2311466,2315928,2315929,2311430,2311245,2311436,2311319,2311246,2311321,2315933,2314390,2315930,2290492 842 NM_001229,AB019205,AL512883,AY214168,CH471167,AB015653,AB020979,AB209147,AF093130,AF110376,AJ781267,AK292080,NM_032996,AK292111,AK303743,AY732490,BC002452,BC006463,BT006911,CR597028,CR613097,U56390,U60521,AA534393,DA078665 Q5UGI1,Q6EV95,ABM82619,NP_127463,NP_001220,BAA82697,CAC42423,CAI12971,CAI12972,CAI12973,CAI12974,AAO21133,EAW51730,EAW51731,BAA78780,BAA87905,BAD92384,AAD12248,AAD13615,CAH03131,BAF84800,BAG64715,AAV33129,AAH02452,AAH06463,AAP35557,AAC50640,AAC50776,P55211,Q59GG2,Q5JRU2,Q5JRU8,BAF84769,ADQ31742 Hs.329502 APAF-3|APAF3|CASPASE-9c|ICE-LAP6|MCH6 CASP-9|ICE-like apoptotic protease 6|OTTHUMP00000002324|apoptotic protease MCH-6|apoptotic protease activating factor 3|apoptotic protease-activating factor 3|caspase 9|caspase 9, apoptosis-related cysteine protease|caspase-9 protein-coding 1344349 CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) The protein encoded by this gene is a mitochondrial calcium-binding protein located in the luminal space of the terminal cisternae of the sarcoplasmic reticulum. The protein binds and putatively stores calcium ions. The protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq] 2314136,2314137,2314133,2314134,2314135,1580863 20682687,7945294,18452871,18269685,17681849,17009399,16344560,15561963,15561962,15489334,12477932,8406504,2321095 2314136,2314137,2314133,2314134,2314135 844 NM_001231,AL121987,AL139011,CH471121,AA197256,AI141895,AK300713,AK313250,BC022289,BF574316,BX500008,DA766051,S73775 NP_001222,CAI15276,EAW52736,BAG62390,BAG36060,AAH22289,AAB32063,P31415,ABM82911,ABM86101 Hs.632476 CASQ|PDIB1 calmitin|calmitine|calsequestrin, skeletal muscle isoform|calsequestrin-1 protein-coding 737298 CASQ2 calsequestrin 2 (cardiac muscle) The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq] 734697,1580863 15698842,19709828,9795116,19398665,19376574,19357236,18669926,18543230,18469084,18399795,17938175,17881003,17655857,17607358,17531962,17045261,16908766,16601229,15489334,15485681,15050380,14638677,14571276,12858557,12732448,12477932,12386154,11704930,11113462,11069905,10825439,10748065,9373149,9287354,8889548,8406504,8125298,7721813,1985907,20302875,21076409 734697 845 NM_001232,NG_008802,AL449264,AL450389,CH471122,AK129831,AK129891,AK225959,AK293595,AK295502,AK313041,BC022288,BM679349,D55655,DC423064 NP_001223,CAI14532,CAI23373,EAW56635,EAW56636,BAG57061,BAG58422,BAG35873,AAH22288,BAA23494,O14958,ABM84145,ABM87547 Hs.57975 FLJ26321|FLJ93514|PDIB2 calsequestrin 2|calsequestrin 2, fast-twitch, cardiac muscle|calsequestrin, cardiac muscle isoform|calsequestrin-2 protein-coding 10291 CASR calcium-sensing receptor The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq] 734699,1600616,1580863,1598940,734698 20421307,12356761,16513638,18240029,19011996,19035514,19151705,19170196,19257819,19389809,19621386,19625176,19690432,19692168,19695239,19706842,19716891,19789209,19839774,19887834,19912241,19915295,20034274,20067903,20130845,20164288,20237496,20361938,20364112,20424473,17122384,17110864,17097611,17062884,17054460,17046587,17018660,16938272,16854379,16740430,16738533,16735501,16642557,16622736,16616098,16598859,16596260,16509534,16497624,16472767,16278666,16218047,16147994,16117875,16109841,15960151,15888439,15879434,15864123,15837785,15805541,15781005,15718278,15684428,15657061,15637145,15613438,15598778,15591042,15579475,15572418,15551332,15531522,15501733,15489334,15472173,15219850,15201280,14985373,14976203,14729680,18296474,18065418,17979873,17974568,17962359,17932932,17853337,17698911,17623778,17591780,17537980,17513419,17482347,17478419,17473068,17463182,17426287,17374709,17374704,17372216,17332735,17331389,17320849,17310098,17309124,17284438,17138967,17132283,17124506,11979955,11907035,11889203,11889154,11863123,11762699,11668634,11589681,11390380,11390379,11248745,11161843,11108243,11095989,11013439,10487661,10405337,9920407,9920108,9852126,9722601,9694886,9677383,9298824,9217223,9168937,8756555,8733126,8702647,8675635,8613532,8597637,7726161,7677761,7673400,11984699,20595056,20798521,21048031,21082232,18328986,18322048,14713274,12018449,7759551,7874174,7916660,19640368,19474519,19471101,19453261,19432691,19423559,19397786,19350667,19328421,19285978,19237714,19179454,19157541,19133942,19088423,19073830,19066294,19058262,19038444,18980667,18938753,18852253,18843020,18796518,18756473,18751724,18712808,18703641,18680227,18676680,18622738,18621740,18525093,18497443,18443236,18410554,18393231,18348986,14660633,14508624,12914574,12899245,12890593,12783889,12773131,12700051,12656660,12605346,12574201,12544508,12517779,12477932,12469911,12459170,12409307,12399473,12241879,12239240,12150336,12095982,12052452,12050233,12040821,12036954,19580466,16754659,20457124,20631026,20668040,18577758,19913121,20558521,20558539,20602573,20628086,20634891,20648625,20654748,20661308,20705733 734699,1600616,1598940,734698 846 NM_001178065,NM_000388,NG_009058,AC068630,AC068754,AY259116,CH471052,DQ088967,DQ327723,DQ327724,DQ327725,DQ327726,DQ327727,DQ327728,S68032,S68033,S68036,X81086,BC104999,BC112236,BP388878,D50855,FJ360896,S79217,S81755,S83176,U20759,U20760,W56898,GM692549 NP_001171536,NP_000379,AAP20759,EAW79490,EAW79491,EAW79492,AAY68221,ABD04091,ABD04092,ABD04093,ABD04094,ABD04095,ABD04096,AAB29413,AAB29414,AAB29415,CAA56990,AAI05000,AAI12237,BAA09453,ACJ04039,AAB35262,AAD14370,AAB46873,AAA86503,AAA86504,P41180,Q2F3K1,Q2F3K2,Q2F3K3,Q2F3K4,Q2F3K5,Q2F3K6,Q86UN7,CAV33589 Hs.435615 CAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|MGC138441|NSHPT|PCAR1 OTTHUMP00000215576|OTTHUMP00000215577|calcium-sensing receptor|extracellular calcium-sensing receptor|parathyroid Ca(2+)-sensing receptor 1|parathyroid cell calcium-sensing receptor protein-coding 1321668 CASS4 Cas scaffolding protein family member 4 16344560,18256281,15489334,14702039,12477932,11780052 57091 DA584687,NM_001164114,NM_001164115,NM_001164116,NM_020356,AL121914,CH471077,AJ276678,AK027760,AK295613,AK308057,AK314653,BC027951,BX280195 NP_001157586,NP_001157587,NP_001157588,NP_065089,CAC12719,CAI19330,EAW75541,EAW75542,EAW75543,EAW75544,EAW75545,EAW75546,EAW75547,CAC00655,BAB55351,BAG58496,AAH27951,Q9NQ75 Hs.473144 C20orf32|CAS4|HEFL|HEPL HEF-like protein|HEF1-EFS-p130Cas-like protein|OTTHUMP00000031328|OTTHUMP00000031329|cas scaffolding protein family member 4 protein-coding 737362 CAST calpastatin The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length natures of only some have been determined. [provided by RefSeq] 1626249,1580863 20127884,15101818,19581569,19756344,20379614,17474147,19365859,19103264,18809371,18793761,18724972,18544539,18537264,18519038,18498295,18340456,18195134,18165173,17950697,17137217,17081983,16381901,15950654,15820218,15489336,15489334,15302935,15014085,14992597,14702039,14685690,14612448,14559243,12923177,12684003,12591934,12482888,12477932,11978196,11849768,11230166,11076863,10942721,10859257,10822276,10731697,10600505,9873017,9705209,9213221,8340353,7998969,7951045,7710300,7706496,7638179,2849943,2577276,2559735,2553724,20953190,2265559,1995645,1569094,2548504,2407243,19913121,20628086 1626249 831 DB450697,DC424542,NM_001190442,NR_033798,U31345,U31346,U38525,U58996,NM_001042440,NM_173060,AC008906,AC020900,CH471084,M28227,M28228,M28229,M28230,M86249,AB026049,AB208816,AF095891,AF327443,AK098137,AK292289,AK292356,AK296919,AK297879,AK298541,AK299384,AK299402,AK300624,AK302206,AK303836,AK303900,AK311585,AK311598,AK314290,AK315146,AK315673,AL832174,AL832349,AY189741,BC013579,BC016066,BC078149,BQ420953,BQ893654,BT009783,BX648397,CD702474,D16217,D50827,DR004967,M33328,M86258,S73329,U26724,U83601 NP_001177371,AAC50136,AAB60371,AAB60372,AAA80684,AAC14353,P20810,Q13940,Q15786,Q59HE3,Q6AZE3,Q7KYS9,Q86YM9,Q9Y2M4,CAL38303,CAL38312,ABM82405,ABM85594,NP_001035905,NP_775083,EAW96064,EAW96065,EAW96066,EAW96067,EAW96068,EAW96069,EAW96070,EAW96071,EAW96072,EAW96073,EAW96074,EAW96075,EAW96076,AAA52066,AAA52759,AAB41237,BAA76923,BAD92053,AAD09102,AAG48151,BAF84978,BAF85045,BAH12454,BAH12685,BAH12810,BAH13022,BAH13025,BAH13316,BAH13650,BAH14064,BAH14077,BAG37594,BAG38038,AAO34397,AAH13579,AAH16066,AAH78149,AAP88785,BAA03747,BAA09438,AAA52296,AAB59398,AAB32311 Hs.436186 BS-17|MGC9402 OTTHUMP00000158520|OTTHUMP00000179127|OTTHUMP00000222728|OTTHUMP00000222729|OTTHUMP00000222731|OTTHUMP00000222732|OTTHUMP00000222733|OTTHUMP00000222734|OTTHUMP00000222735|OTTHUMP00000222737|OTTHUMP00000222738|OTTHUMP00000222739|OTTHUMP00000222740|OTTHUMP00000222748|OTTHUMP00000222806|calpain inhibitor|calpastatin|sperm BS-17 component protein-coding 1606535 CASZ1 castor zinc finger 1 18029348,19430479,17727731,16710414,16631614,16322216,15489334,14702039,12477932,9373149,8125298,20479155 54897 NM_001079843,AL031984,AL139423,AL157717,CH471130,AA449398,AK000328,AK022285,AK092289,AK130996,AK225324,AK293839,AK311700,BC004410,BC051883,DQ217660,DQ372703,NM_017766 NP_001073312,NP_060236,CAI22570,CAI22571,EAW71662,EAW71663,BAA91089,BAG52520,BAC85474,BAH11609,AAH04410,AAH51883,ABB29845,ABD14411,Q5T9S0,Q86V15,ABZ92343 Hs.439894 CST|FLJ12223|FLJ20321|RP4-734G22.2|SRG|ZNF693|dJ734G22.1 castor homolog 1, zinc finger|castor-related protein|putative survival-related protein|survival related|survival-related|zinc finger protein 693|zinc finger protein castor homolog 1 protein-coding 732740 CAT catalase 1581147,1581148,1581149,1581150,1581151,1300375,1300048,1580863,2317410 13904105,17566139,19170196,19341793,19399816,19409565,19538885,19584075,19615732,19622717,19625176,19688952,19692168,19705749,19731237,19787204,19855359,19863340,19874574,19896490,19897513,19897742,19902075,19929244,20020532,20049130,20078877,20082261,20097730,20105444,20109103,20110814,20194081,20416077,20444272,20494887,2991908,7829101,10488055,10096042,9848047,9818873,8479912,8282800,6548744,6252821,3944256,3755526,3755525,2308162,2268310,1551654,14975589,10567208,10656833,16644728,18312938,18379038,11134921,17053817,19505917,19497990,19424819,19373626,19336475,19274593,19255063,19254215,19242068,19172437,19124506,19092850,19064360,19050255,18977241,18949620,18936436,18930811,18682580,18634817,18606005,18485895,18483329,18469277,18423055,18415766,18368408,18353692,18248894,18171680,18048809,17937824,17879952,17850515,17696155,17693525,17646900,17634480,17601350,17577741,17567781,17567676,17549373,17548672,17264407,17213227,17209132,17171548,17145829,17005595,16956821,16868544,16775184,16773213,16729966,16630078,16600249,16586065,16554811,16523188,16504657,16482509,16467073,16453382,16424062,16387755,16385446,16298864,16236267,16204228,16192345,16098030,16076760,16047490,16026777,15988600,15934434,15870505,15800961,15774926,15735318,15733034,15705913,15556604,15528999,15489334,15472150,15203188,15182856,15133753,15131792,15125229,14962975,14710363,14580687,12950161,12838770,12824748,12777400,12730222,12665801,12606529,12603857,12516882,12487379,12477932,12469627,12468545,12447480,12372460,12231449,12165738,12110367,12032677,11907164,11837458,11729237,11728823,11479740,11313354,11182520,11106583,10960480,10666617,10567403,20732340,21179281,20923778,19913121,20301895,20485444,20613769,20628086,20643115,20649881,20727719,20851292,20878976,21053180,21054578,21054877 1581147,1581148,1581149,1581150,1581151,1300375,2317410 847 AW023382,NG_013339,AL035079,AY545477,CH471064,K02400,L13609,X04085,X04096,AK291585,AK301577,AK310184,AK315350,AY028632,BC027300,BC110398,BC112217,BC112219,BI551632,CA748580,CR591917,NM_001752,CR595503,CR597192,CR602251,CR609505,CR613834,X04076 NP_001743,CAB45236,AAS37679,EAW68170,EAW68171,AAB59522,AAA16651,CAA27721,BAF84274,BAG63070,BAG37746,AAK29181,AAH27300,AAI10399,AAI12218,AAI12220,CAA27717,P04040,Q8TAK2,ADR83058 Hs.502302 MGC138422|MGC138424 catalase protein-coding 1343051 CATHL1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1) 7589491 848 1347815 CATHL2 cathelicidin 2 (bactenin 5) 7589491 850 1351205 CATHL3 cathelicidin 3 (bactenin 7) 7589491 851 1352997 CATHL4 cathelicidin 4 (indolicidin) 7589491 852 1345684 CATHL5 cathelicidin 5 7589491 853 1344569 CATHL6 cathelicidin 6 7589491 854 1343768 CATR1 CATR tumorigenicity conversion 1 7604004 856 Q13166 U25433 1321252 CATSPER1 cation channel, sperm associated 1 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq] 1580863 16740636,19344877,16625279,16382101,16189514,14688170,12477932,11675491,11595941,11595929,18976756 117144 NM_053054,AP006287,CH471076,AF407333,BC032950,BC036522,NG_016285 NP_444282,EAW74488,EAW74489,AAL14105,AAH32950,AAH36522,Q8NEC5 Hs.189105 CATSPER|MGC33335|MGC33368 cation channel sperm-associated protein 1|hCatSper|sperm ion channel|sperm-associated cation channel 1 protein-coding 1316921 CATSPER2 cation channel, sperm associated 2 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Additional splice variants have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 17207965,16740636,16382101,14702039,12477932,11675491,11595929,20379614 117155 NM_172095,NM_054020,NM_172097,NG_005156,NG_009283,AC011330,CH471308,AF411817,AF411818,AF411819,AK093318,AK122607,AW135409,BC028728,BC064387,BX648099 ADQ32834,NP_742093,NP_473361,NP_742095,EAW50798,EAW50801,EAW50802,AAL26490,AAL26491,AAL26492,BAG53620,AAH28728,AAH64387,Q96P56 Hs.662284 MGC33346 OTTHUMP00000066276|OTTHUMP00000066277|OTTHUMP00000066278|OTTHUMP00000199626|cation channel sperm-associated protein 2|sperm ion channel protein-coding 1625093 CATSPER2P1 cation channel, sperm associated 2 pseudogene 1 Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq] 18085818,17098888,12825070,12477932,18974790 440278 NR_002318,NG_005156,AC018512,BC047442,BC052612,BC066967 Hs.253260 pseudo 1313883 CATSPER3 cation channel, sperm associated 3 1580863 18391951,17227845,16382101,12932298,12646162,12477932 347732 CH471062,AF432876,AK292427,AY156951,BC101692,BC110384,BN000272,NM_178019,AC004764,AC008406,AC008670,AW008956,BI827754 EAW62228,AAO85416,BAF85116,AAO13012,AAI01693,AAI10385,CAE30476,Q86XQ3,NP_821138 Hs.631804 CACRC|MGC126741 ca(v)-like protein|calcium channel repeat containing 1|cation channel sperm-associated protein 3|one-repeat calcium channel-like protein|putative ion channel CatSper3 protein-coding 1350186 CATSPER4 cation channel, sperm associated 4 17227845,16382101,12932298,20546612,12477932,19343178 378807 NM_198137,AL355877,CH471059,BC128138,BC128139,BC144663,BN000273 NP_937770,CAH71538,EAX07839,AAI28139,AAI28140,CAE30475,Q7RTX7 Hs.123532 MGC149223 OTTHUMP00000008765|cation channel sperm-associated protein 4|ion channel CatSper4 protein-coding 1345422 CATSPERB cation channel, sperm-associated, beta 17081983,14702039,12477932,17478420,20164292 79820 NM_024764,AL121839,AL133373,AK024360,AK126034,BC016315,BC126214,BC126216 NP_079040,BAB14896,BAG54281,AAI26215,AAI26217,Q9H7T0 Hs.131755 C14orf161|CatSper(beta)|FLJ14298 catSper-beta|cation channel sperm-associated protein subunit beta|cation channel, sperm associated beta protein-coding 1322128 CATSPERG cation channel, sperm-associated, gamma 737633 19516020,16344560,14702039,12477932 737633 57828 NM_021185,AC005625,AC005789,AC026806,CH471126,AK096218,AK128039,AK128220,AK310460,AL133023,AW072458,BC033852,BC060889,BC094785,BC109035,BG719195,DB096694 NP_067008,AAC34570,AAC34571,EAW56777,EAW56778,EAW56779,EAW56780,EAW56781,EAW56782,EAW56783,BAC87333,CAH56391,AAI09036,O75294,O75295,Q32MQ2,Q6ZRH7 Hs.324335 C19orf15|DKFZp434A1022|FLJ38899|FLJ46353|MGC125664 OTTHUMP00000203420|OTTHUMP00000203424|cation channel sperm-associated protein subunit gamma protein-coding 619568 CAV1 caveolin 1, caveolae protein, 22kDa The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 MAP kinase cascade. CAV1 and CAV2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. By using alternative initiation codons in the same reading frame, two isoforms (alpha and beta) are encoded by a single transcript from this gene. [provided by RefSeq] 1581152,1581153,1581154,2289101,2289102,2289112,2289109,2289124,2289103,2289106,2289110,2289111,2289113,2289120,2289125,2289100,2289104,2289105,2289107,2289116,2289123,2296031,1600654,1625360,1625364,1580863 20543983,19032226,19015640,19002186,18992712,18992284,18985008,18957516,18936967,18923542,18922892,18836420,18802406,18793348,18789131,18698612,18681962,18676680,18667611,18667513,18635971,18598695,18596970,18561140,18543249,18458534,18444242,18439424,15485672,15485671,15466889,15466865,15458387,15375584,15353589,15334058,15314095,15274335,15263006,15242332,15240128,15234575,15234566,15205342,15201341,15190056,15182174,15069532,15064242,15003536,14981899,14963033,14729661,14719121,14706341,14665433,14660607,14645548,14612902,14593097,14576164,12888893,12816877,12813462,12810205,12737162,12732636,12730243,12716887,12711000,12694195,12690205,12648214,12606314,12562842,12529448,12507501,12477932,12429840,12414992,12414512,12401329,12388423,12372346,12368209,12359771,12354760,12235142,12186899,12185081,12176037,12138116,12122055,12011038,11980479,11956154,11920460,11915322,11866528,11865038,11294831,12852865,19052258,17848177,12388746,12743374,14707126,15219854,15703204,9188442,9580552,10781589,16722822,16807357,19521982,19499152,19487814,19475601,19411449,19411448,19395651,19381331,19369293,19342880,19286607,19250636,19244345,19234134,19219452,19123976,19121286,19116988,19104007,19061949,19059381,18434090,18406871,18332144,18312604,18308897,18301242,18300018,18296864,18282163,18258603,18245088,18237401,18211975,18203815,18180853,18162583,18081315,18065769,18054388,18053095,17952758,17942630,17936759,17935714,17933968,17906498,17898556,17855368,17851687,17850762,17786288,17785436,17713785,17707459,17699771,17671707,17662641,17626097,17615539,17609206,17594718,17556531,17537407,17478448,17460461,17379346,17359972,17341888,17334644,17314510,17299799,17287217,17284246,17272740,18437015,17245131,17237399,17202321,17200343,17197700,17190831,17179151,17178917,17111160,17081983,17047056,17014845,16979166,16951145,16931572,16920641,16904002,16897435,16877379,16870193,16857240,16850311,16822931,16820915,16790997,16723714,16713605,16617096,16616146,16608879,16601841,16601146,16541313,16501093,16480767,16443388,16407214,16405917,16381901,16338968,16332692,16328005,16324201,16263077,16251425,16244790,16225848,16202996,15976327,15969750,15968725,15958730,15951569,15948133,15817451,15811424,15769846,15722199,15691837,15665033,15657086,15592498,15592455,15590415,15531587,15504729,15498565,15496150,15489336,15489334,20427576,20629037,20736308,16890161,20187291,18510854,20700465,19960513,20395445,20881564,11845324,11805080,11748236,11707266,11751885,11563984,11546661,11498016,11451957,11432874,11278309,11256614,11238032,11114180,11112773,11102446,11078729,11076863,11075810,11039464,10988071,10921915,10675563,10637311,10598578,10218480,10212252,10090765,10087206,10086342,10085129,10066366,9867838,9837809,9801158,9741627,9685399,9662443,9647788,9553108,9380697,9374534,9361015,9110174,8910575,8910295,8632005,8621645,8619474,8058322,1360410,1294831,15539149,14675200,11724572,12147258,10980191,11563969,15782218,12633858,16344560,16799092,17010968,18759267,19002697,19038362,19160064,19170196,19288272,19386787,19434519,19477952,19483189,19483462,19494002,19556867,19581923,19582878,19609943,19614762,19614763,19620302,19625176,19641024,19679565,19692168,19706615,19716156,19718657,19718715,19759399,19767411,19787257,19801678,19816600,19820694,19828204,19846513,19887621,19893453,19897728,19930645,19948975,20031158,20062060,20062063,20127227,20153318,20209490,20346360,20371787,19965594,20374325,20392844,20021823,20819778,20855565,21041450,20835238,20581046,20923773,20940300,20977883,20729193,20610713,19913121,20463894,20605793,20628086 1581152,1581153,1581154,2289101,2289102,2289112,2289109,2289124,2289103,2289106,2289110,2289111,2289113,2289120,2289125,2289100,2289104,2289105,2289107,2289116,2289123,2296031,1600654,1625360,1625364 857 NM_001753,NG_012051,AC006159,AF019742,AF095591,AF095592,AF095593,AF125348,AJ133269,CH236947,CH471070,AB209926,AB451284,AB451416,AF070648,AF172085,AI878826,AK290871,AK307501,AL133639,AY762103,BC006432,BC009685,BC082246,BT007143,EF179102,EF649773,EF649774,Z18951,AF074993,BG170208,DA477166,DA943080,DB266251,NM_001172895,NM_001172896,NM_001172897 NP_001744,AAB82538,AAD23745,AAD34722,CAB63654,EAL24360,EAW83503,EAW83504,EAW83505,BAD93163,BAG70098,BAG70230,AAQ13608,BAF83560,AAX07830,AAH09685,AAH82246,AAP35807,ABW22625,ABW22626,CAA79476,Q03135,Q2TNI1,Q59E85,Q71VB8,Q7Z4F3,CAL38555,ABM81573,ABM84753,ABW03274,NP_001166366,NP_001166367,NP_001166368 Hs.74034 BSCL3|CAV|CGL3|MSTP085|VIP21 OTTHUMP00000196475|caveolin-1|cell growth-inhibiting protein 32 protein-coding 1343117 CAV2 caveolin 2 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. CAV1 and CAV2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Two transcript variants encoding distinct isoforms have been identified for this gene. By using alternative initiation codons in the same reading frame, two isoforms (alpha and beta) are encoded by one transcript. [provided by RefSeq] 1600654,1625364,1580863 17567994,17081983,16904002,16521037,16381901,16244790,15968725,15703204,15583422,15569306,15504032,15489336,15489334,12866378,12813462,12782592,12690205,12648214,12496259,12477932,12414992,12138116,12091389,11752456,11515846,11294831,11076863,10817676,10675615,10464308,10218480,10087206,9837809,9801158,9707634,9361015,7829101,7479780,1360410,10675563,19913121,20628086,10212252,8552590,12743374,15788404,11256614,18081315,17912630,17898556,17671707,17615539,12633858,16169070,16799092,19948975,20062060,20209490,20346360,20819778,20835238,16341674 1600654,1625364 858 AK024513,AK310786,AK311964,AV650449,AW022298,AY353255,BC005256,BM542127,BM762545,BT007051,BX350116,CR407685,CR604437,DQ656068,NM_198212,AC006159,AJ011300,AJ133269,AJ242718,CH236947,CH471070,AA878149,AA883287,AB451285,AB451417,AF035752,AI762868,NM_001233 BAG34904,AAQ57600,AAH05256,AAP35700,CAG28613,P51636,Q53X57,Q712N7,CAL38690,NP_001224,NP_937855,CAB36907,CAB63653,CAB65090,EAL24361,EAL24362,EAW83499,EAW83500,EAW83501,EAW83502,BAG70099,BAG70231,AAB88492 Hs.212332,Hs.603096 CAV|MGC12294 caveolae protein, 20-kD|caveolin 2 isoform a and b|caveolin-2 1643439 BW101_H protein-coding 1344208 CAV3 caveolin 3 This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq] 1599529,1582168,1599542,1580863 18985008,19544087,19584897,19773168,20201926,20346360,10988290,17275750,12847114,17524427,17060380,19481058,19380584,19238754,19219452,19101541,18930476,18671188,18583131,18509671,18487559,18253147,17615539,17537631,17405141,17307729,17210839,17039257,16770780,16563233,16521037,16479074,16458928,16247063,16082247,15682833,15668980,15580566,15564037,15541368,15489334,15099591,14981167,14749532,14729862,14672715,14663034,14600260,12939441,12839838,12666119,12648214,12557291,12477932,12387816,12082049,11904769,11884389,11821059,11805270,11756609,11532985,11431690,11251997,11115849,11001938,10835421,10746614,10386585,9756945,9545514,9537420,9536092,9374534,9353265,9252390,10066366,20558763,8567687,7797570,20229577,20472890,19913121,20628086 1599529,1582168,1599542 859 BX114193,NM_033337,NM_001234,NG_008797,AC068312,AF036366,AF036367,AF204690,CH471055,AA993189,AF036365,AF043101,AK291892,BC069368,BC102033,BC102036,BC102037,BF310794,Y14747 NP_203123,NP_001225,AAC39758,AAG02025,EAW63945,EAW63946,AAC39756,AAC14931,BAF84581,AAH69368,AAI02034,AAI02037,AAI02038,CAA75042,P56539 Hs.98303 LGMD1C|LQT9|MGC126100|MGC126101|MGC126129|VIP-21|VIP21 M-caveolin|caveolin-3 protein-coding 1353540 CBARA1 calcium binding atopy-related autoantigen 1 1302558 9806765,16344560,14702039,12477932,11230166,9373149,8125298,20877624,20693986,16385451,19615732,19919870 1302558 10367 AC091769,AL356009,AL513185,CH471083,AK022697,AK023318,AK225298,AK225695,AK296086,AK298347,AL117423,NM_006077,BC004190,BC004216,BC016641,CR615459,CR616781,CR625771,CR625827,DB030067,Y17711,BU627477,NM_001195518,NM_001195519 NP_006068,CAI12376,EAW54457,EAW54458,EAW54459,BAB14187,BAG51182,BAG58841,BAG60593,CAB55915,AAH04190,AAH04216,AAH16641,CAA76830,Q9BPX6,ABM82013,ABW03344,NP_001182447,NP_001182448 Hs.524367 CALC|DKFZp564C246|EFHA3|FLJ12684|MICU1 OTTHUMP00000019787|ara CALC|atopy related autoantigen|atopy-related autoantigen CALC|calcium uptake protein 1, mitochondrial|calcium-binding atopy-related autoantigen 1|mitochondrial calcium uptake 1 protein-coding 1319231 CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq] 1580863 16966434,19026687,18586123,16713569,16189514,15489334,15302935,15146197,12477932,12242670,11780052,10675041,9790752,9787195,9447981,16407974,14703694,15333839,19060904,20520637 9139 NM_001032999,NM_005093,NM_001039709,AF076452,AL034421,AL121906,AL162505,CH471077,AB209306,AF013970,AF039200,AF052210,AF052211,AF052212,AF068266,AF069747,AK294168,AK307887,AK314159,BC015066,BC016298,BC040344,CB998035,CN347014,CR749462 NP_001028171,NP_005084,NP_001034798,AAD41221,CAI19278,CAI19279,CAI19280,CAI19281,CAI22125,CAI22130,CAI13422,EAW76311,EAW76312,EAW76313,BAD92543,AAC39841,AAC17499,AAC64699,AAC64700,AAC19378,AAD02825,BAG57490,BAG36843,AAH15066,AAH16298,AAH40344,CAH18294,O43439,O60614,Q59G03,Q5TGE8,Q68DC6,ABZ92457 Hs.153934 DKFZp313F2116|EHT|MTGR1|ZMYND3|p85 ETO homolog on chromosome 20|ETO homologous on chromosome 20|MTG8-like protein|MTG8-related protein 1|OTTHUMP00000030653|myeloid translocation gene-related protein 1|myeloid translocation-related protein 1|protein CBFA2T2 protein-coding 1321512 CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 The t(16;21)(q24;q22) translocation is a rare but recurrent chromosomal abnormality associated with therapy-related myeloid malignancies. The translocation produces a chimeric gene made up of the 5'-region of the AML1 gene fused to the 3'-region of this gene. In addition, this gene is a putative breast tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene, and a brefeldin A-sensitive association of RII-alpha protein with one of the isoforms has been demonstrated in the Golgi apparatus. [provided by RefSeq] 1580863 20116376,20138877,16966434,9447981,18950503,18656694,18586123,18456661,15231665,14703694,14702039,12477932,12242670,12213200,12183414,11999578,11823486,9790752,9596646,16407974,11533236,15342556 863 HI573916,HI573918,AK090985,AK097904,AK308355,AK314766,BC009554,BC047019,BC062624,BE243049,BE676580,NM_005187,NM_175931,AB013286,AC092384,AF052213,AF052214,AF052215,AF052216,AF052217,CH471184,AB010419,AB010420,AF052220,BP282804 CBX47447,CBX47448,BAG52257,BAG37304,AAH47019,AAH62624,O75081,ABZ92419,NP_005178,NP_787127,BAA31276,BAA31277,AAC64702,AAC64701,EAW66746,EAW66747,EAW66748,EAW66749,EAW66750,EAW66751,EAW66752,BAA29061,BAA29062,AAC64698 Hs.513811 ETO2|MTG16|MTGR2|ZMYND4 MTG8-related gene 2|MTG8-related protein 2|hMTG16|myeloid translocation gene 8 and 16b|myeloid translocation gene on chromosome 16 protein|protein CBFA2T3|zinc finger MYND domain-containing protein 4 protein-coding 1320589 CBFB core-binding factor, beta subunit The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599543 8351518,10856244,12217689,9751756,19179469,19156145,18695000,17571080,17379770,17287858,16767164,16504290,16502584,15585652,15489334,15386419,15138260,12495904,12477932,12434156,12239155,11276260,10958941,10914550,10536006,10404215,9447981,9264408,9191054,8889549,8889548,7622058,7587111,16169070,15243141,9751710,20591170,20225274,20306249,20607802,17431401,19453261,20195544,20306685,20433876 1599543 865 NG_009281,AC009084,AC074143,CH471092,AA020956,AF294326,AK290462,AK291834,AK311084,AK311724,BC018509,BM679848,BT006862,CR594690,CR608601,CR611500,CR614949,CR618498,L20298,NM_001755,NM_022845 EAW83066,EAW83067,EAW83068,EAW83069,EAW83070,EAW83071,AAG01553,BAF83151,BAF84523,AAH18509,AAP35508,AAA02868,Q13951,ABM92175,ABM84645,NP_001746,NP_074036 Hs.460988 PEBP2B CBF-beta|PEA2-beta|PEBP2-beta|SL3-3 enhancer factor 1 beta subunit|SL3-3 enhancer factor 1 subunit beta|SL3/AKV core-binding factor beta subunit|core-binding factor subunit beta|polyomavirus enhancer binding protein 2, beta subunit|polyomavirus enhancer-binding protein 2 beta subunit protein-coding 1345184 CBL Cas-Br-M (murine) ecotropic retroviral transforming sequence The cbl oncogene was first identified as part of a transforming retrovirus which induces mouse pre-B and pro-B cell lymphomas. As an adaptor protein for receptor protein-tyrosine kinases, it positively regulates receptor protein-tyrosine kinase ubiquitination in a manner dependent upon its variant SH2 and RING finger domains. Ubiquitination of receptor protein-tyrosine kinases terminates signaling by marking active receptors for degradation. [provided by RefSeq] 2299174,1580863,2317988 20619386,10799548,11157475,11406619,11443118,11777909,119942,12193575,12226085,12618476,12637493,12649282,15031295,15324660,15677445,15958209,16219545,16467851,16729043,16914641,16969069,17141222,17255943,17353186,17486068,17545148,19081591,19167335,19276253,19457607,19546888,19571318,19620960,19635790,19689429,19861161,19892728,19901108,19932172,20008299,20086179,20126411,20130058,20189481,20195608,20357823,20379614,20416077,5668240,7517397,7642581,8063801,82,8695851,8950973,8978305,8995445,9045636,9178769,9233773,9716598,9890970,16407834,15465819,8621719,11823423,14505571,10567358,11894095,15475003,15962011,19401194,19387008,19268472,19258424,19201892,9174058,17995934,18519587,9918857,12935897,9223670,11152963,11071869,10907644,9820532,9344843,9092574,12559036,8798643,11331248,10477741,7629518,9846481,11896602,8641358,9234717,7721825,12727845,10540342,8621483,11313921,15735736,15128873,15001553,14738146,14702039,12881521,12815057,12802274,12696071,12522270,12504111,12496371,12486104,12477932,12475393,12435267,12244174,12234920,12177062,12176909,12149655,12135478,12061819,12024036,11997497,11997436,11994282,11964172,11904433,11894096,11847211,11826757,11741956,11713248,11696592,11687594,11494134,11278816,11263968,11239464,11149930,11133830,11067845,11053437,11032556,11024037,11001060,10966114,10635327,10608804,10570290,10531381,19144635,19074904,19002168,18792408,18660489,18632619,18508924,18505781,18374639,18316398,18273061,18235045,18070883,18048363,18045238,17804547,17702744,17675501,17675467,17635922,17620338,17475912,17372230,17237826,17094949,17082185,17003487,16964243,16955467,16735510,16503409,16289966,16246327,16228008,16094384,15951569,15878338,15872089,15824310,15728256,15708858,15635092,15592455,15337528,15273720,15210722,15190072,15159412,15135048,15782196,10514377,10449770,10427990,10374881,10204582,10092522,10078535,10074432,10068674,9989826,9857068,9712732,9675877,9622055,9603468,9590251,9535867,9489702,9447983,9407100,9367879,9200440,9178909,9162067,9108392,8810341,8780698,8702998,8663231,8662998,8635998,8083187,7881408,7657591,7629144,7603564,2013228,1565471,15892963,16356860,17679095,17974561,17971399,10086340,9872323,9461587,16105874,16327786,16397241,16740632,20936779,20595524,15107835,15123609,15282549,15315962,15456872,17709377,20543203,11891219,2030914,12218189,12593796,15577829,15668240,15737992,18029348,20880116,21048031,20525683,20678218,20694012,20622007 2299174,2317988 867 NG_016808,NM_005188,AP002956,CH471065,AK092300,BC132733,BC136463,BG722940,X57110,X69207,AL832396,BX648139 NP_005179,EAW67476,AAI32734,AAI36464,CAA40393,P22681 Hs.504096 C-CBL|CBL2|RNF55 E3 ubiquitin-protein ligase CBL|RING finger protein 55|casitas B-lineage lymphoma proto-oncogene|oncogene CBL2|proto-oncogene c-Cbl|signal transduction protein CBL protein-coding 733798 CBLB Cas-Br-M (murine) ecotropic retroviral transforming sequence b 2314039,2314040,2314037,2314038,2306289,2314041,625457,1580863 16734387,20936779,7784085,18316398,18201552,17475912,17235393,17209142,17081983,16868939,16525057,16503409,16459459,16189514,15922296,15629882,15489334,15315962,15273720,15231748,14702039,14604964,12935897,12907674,12880961,12771181,12697763,12477932,12218189,12177062,12093870,11857085,11826757,11406619,11375397,11087752,11053437,10086340,10074432,10022120,9614102,9399639,8889548,16729043,11526404,19506219,19546888,19834503,20237496,20395198,20400514,20453840,18029348,21037273 2314039,2314040,2314037,2314038,2306289,2314041,625457 868 AC016138,NM_170662,AC112485,AC126185,CH471052,AA251219,AB075490,AK094184,AK123147,AK130668,AK292792,AK302533,AK302892,BC032851,BC065915,BQ188745,BX537484,BX649066,CR622009,CR749655,DQ349203,DQ349204,R78694,U26710,U26711,U26712,AK316276 NP_733762,EAW79751,EAW79752,EAW79753,EAW79754,BAE45748,BAG52839,BAG53874,BAF85481,BAG63805,BAG64066,AAH32851,CAH56175,CAH18449,ABC86700,ABC86701,AAB09291,AAB09292,AAB09293,Q13191,Q68CY2,ABM85378,ABW03717,BAH14647 Hs.430589 DKFZp686J10223|DKFZp779A0729|DKFZp779F1443|FLJ36865|FLJ41152|Nbla00127|RNF56 Cas-Br-M (murine) ectropic retroviral transforming sequence b|E3 ubiquitin-protein ligase CBL-B|OTTHUMP00000198146|OTTHUMP00000198147|RING finger protein 56|SH3-binding protein CBL-B|cas-br-m (murine) ectropic retroviral transforming sequence b|casitas B-lineage lymphoma proto-oncogene b|signal transduction protein CBL-B protein-coding 1316966 CBLC Cas-Br-M (murine) ecotropic retroviral transforming sequence c CBL proteins, such as CBLC, are phosphorylated upon activation of a variety of receptors that signal via protein tyrosine kinases. Through interactions with proteins containing SRC (MIM 190090) homology-2 (SH2) and SH3 domains, CBL proteins modulate downstream cell signaling (Keane et al., 1999 [PubMed 10362357]).[supplied by OMIM] 1580863 10362357,14661060,12024036,15302935,15117950,12711395,12477932,12244174,12234920,12226085,12177062,10737800,9988270,9824625,20525694,10571044,10086340,19549727 23624 NM_012116,NM_001130852,AC092066,CH471126,AB028645,AF117646,AF117647,BC028915,BF835530 NP_036248,NP_001124324,EAW57292,EAW57293,BAA86298,AAD34341,AAD34342,AAH28915,Q9ULV8,ABM82169,ABM85419 Hs.466907 CBL-3|CBL-SL|RNF57 Cas-Br-M (murine) ectropic retroviral transforming sequence c|RING finger protein 57|SH3-binding protein CBL-3|SH3-binding protein CBL-C|signal transduction protein CBL-C protein-coding 1321764 CBLL1 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 Epithelial cell cadherin (CDH1; MIM 192090) is endocytosed as a consequence of tyrosine phosphorylation and ubiquitination. HAKAI is an E3 ubiquitin ligase (see UBE3A; MIM 601623) that mediates ubiquitination of the CDH1 complex.[supplied by OMIM] 737633 16344560,16336960,15342556,15146197,15009096,14996930,12853948,12477932,11944035,11836526,19535458,20379614 737633 79872 NM_024814,AC002467,CH236947,CH471070,AK026762,AK293352,AK307992,BC027460,BC130529,BC130531,BC144176,BP201841,BP280978,BX348716,CN274642,CN291556,NR_024199,CR608275,CR623864,DB174309 NP_079090,AAS07390,EAW83416,EAW83417,BAB15544,BAG56868,AAH27460,AAI30530,AAI30532,AAI44177,Q75N03,ADR83027 Hs.592271 FLJ23109|HAKAI|MGC163401|MGC163403|RNF188 Casitas B-lineage lymphoma-like|E-cadherin binding protein E7|E3 ubiquitin-protein ligase Hakai|OTTHUMP00000206720|OTTHUMP00000206722|OTTHUMP00000206724|RING finger protein 188|c-Cbl-like protein 1|casitas B-lineage lymphoma-transforming sequence-like protein 1 protein-coding 1348062 CBLN1 cerebellin 1 precursor Precerebellin is similar to the noncollagen domain of complement component C1qB. It gives rise to several truncated derivatives, including the hexadecapeptide cerebellin which is highly enriched in postsynaptic structures of cerebellar Purkinje cells in cartwheel neurons of the dorsal cochlear nucleus. 1580863 10964938,15146197,17030622,20200953,1704129,15489334,12477932,10688962,10022429,7877445,2760624 869 AI147523,CN281334,R50764,NM_004352,AC007614,CH471092,AK314276,BC093692,BC093718,M58583 NP_004343,EAW82731,BAG36936,AAH93692,AAH93718,AAA35676,P23435 Hs.458423 cerebellin-1|precerebellin protein-coding 1320203 CBLN2 cerebellin 2 precursor 19010793,15489334,14702039,12975309,12477932,7877445,17030622 147381 NM_182511,AC011208,CH471117,CS208023,AK125422,AK291364,AY359074,BC035789,BC110843,BX409761,HB867208 NP_872317,EAW66527,EAW66528,EAW66529,CAJ44937,BAF84053,AAQ89433,AAH35789,Q8IUK8,CBF57590 Hs.569851 cerebellin-2 protein-coding 1343800 CBLN3 cerebellin 3 precursor Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM] 17030622,15340161,12975309,10964938 643866 AL132800,AY359070,CD368047,NM_001039771 NP_001034860,AAQ89429,Q6UW01 Hs.207603 PRO1486 cerebellin-3 protein-coding 1346675 CBLN4 cerebellin 4 precursor Cerebellin is a sixteen aa peptide found mainly in the adrenal medulla, where it has been shown to have a neuromodulatory function. Cerebellin is derived from precerebellin, a protein with sequence similarity to the noncollagen domain of complement component C1qB. The protein encoded by this gene is a glycoprotein which shares sequence similarity with precerebellin. [provided by RefSeq] 17207965,15489334,15340161,12975309,12477932,11780052,17030622 140689 AK289640,AY358527,BC047076,BC050026,BC069402,BC069488,BC069516,CD244520,CH471077,NM_080617,AL117383 ADQ32927,EAW75567,BAF82329,AAQ88891,AAH50026,AAH69402,AAH69488,AAH69516,Q9NTU7,NP_542184,CAB90173 Hs.126141 CBLNL1 cerebellin precursor-like 1|cerebellin-4|cerebellin-like glycoprotein 1 protein-coding 737546 CBR1 carbonyl reductase 1 Carbonyl reductase is one of several monomeric, NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds. This enzyme is widely distributed in human tissues. Another carbonyl reductase gene, CRB3, lies close to this gene on chromosome 21q. [provided by RefSeq] 1300048,1580863,2302233 3141401,3083821,2182121,1921984,1540623,1453004,9740676,17353931,19027726,19022938,19016765,18826943,18676680,18551042,18493841,17697149,17569794,17344335,15489334,12836057,12477932,12123751,11771743,11306092,10830953,10091578,8432528,8421682,7705364,7005231,3311025,16169070,18449627,19170196,19204081,19625176,19692168,19841672,20471030,20029029,20562859 2302233 873 NM_001757,AB003151,AP000688,AP001724,CH471079,EF141836,M62420,AB124848,AK294142,AK311219,AK314879,AL548852,BC002511,BC015640,BT019843,CR541708,CR594171,CR604950,CR605960,CR607402,CR618962,CR626808,J04056,AK308691 NP_001748,BAA33498,BAA95508,EAX09752,EAX09753,EAX09754,EAX09755,ABK97430,AAA17881,BAE45940,BAG57468,BAG37394,AAH02511,AAH15640,AAV38646,CAG46509,AAA52070,P16152,ABM83279,ABM86485 Hs.88778 CBR|SDR21C1|hCBR1 15-hydroxyprostaglandin dehydrogenase|NADPH-dependent carbonyl reductase 1|carbonyl reductase (NADPH) 1|carbonyl reductase [NADPH] 1|prostaglandin 9-ketoreductase|prostaglandin-E(2) 9-reductase|short chain dehydrogenase/reductase family 21C, member 1 protein-coding 1320224 CBR3 carbonyl reductase 3 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq] 1580863,2316291 18029348,20734064,9740676,19027726,19016765,18676680,18551042,18493841,18457324,15537833,15489334,12477932,11592776,10830953,20806931,9503011,9373149,8125298,7705364,16169070,10728668,19170196,19590938,19615732,19625176,19671875,19692168,19841672 2316291 874 AB004854,AB041012,AB124847,AJ000096,AK223429,BC002812,CR541709,NM_001236,AB003151,AP000689,AP001725,CH471079,EF462915,AB004850 BAA33500,BAD74062,BAE45939,CAA03921,BAD97149,AAH02812,CAG46510,O60874,O75828,Q53F60,NP_001227,BAA34207,BAA89425,BAA95547,EAX09747,ABO43035 Hs.154510 SDR21C2|hCBR3 NADPH-dependent carbonyl reductase 3|carbonyl reductase (NADPH) 3|carbonyl reductase [NADPH] 3|short chain dehydrogenase/reductase family 21C, member 2 protein-coding 1602997 CBR4 carbonyl reductase 4 20877624,19027726,19000905,14702039,12477932,17207965,16344560,19571038 84869 HB874579,HC931988,NM_032783,AC021151,CH471056,AK027337,AK291756,AL049442,AL833393,AV704400,BC021973,BC033650,BG119539,BQ230058,CR595317,W70279,DA217727 CBF61666,CBU86558,NP_116172,EAX04797,EAX04798,BAB55045,BAF84445,CAH10582,AAH21973,AAH33650,Q8N4T8,ADQ31575 Hs.659311 FLJ14431|SDR45C1 3-oxoacyl-[acyl-carrier-protein] reductase|OTTHUMP00000219599|OTTHUMP00000219638|carbonic reductase 4|carbonyl reductase family member 4|quinone reductase CBR4|short chain dehydrogenase/reductase family 45C, member 1 protein-coding 737316 CBS cystathionine-beta-synthase The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. [provided by RefSeq] 1600622,1600624,1600626,1600627,1359024,1580863,1300048 18776696,19170196,19447967,19531479,19559392,19593657,19625176,19657138,19657388,19683694,19692168,19722721,19729796,19737740,19906435,19948975,20031554,20031578,20056620,20066033,20082058,20160465,20217437,20237949,20308073,20346360,20379614,20453000,20458436,7929220,19064578,19048631,19019492,19019335,19010420,18992148,18988749,18977990,18977241,18950795,18936436,18839533,18830263,18818748,18799873,18792976,18785313,18708589,18676680,18636124,18635682,18622257,18620331,18614746,18454451,18447718,18427977,18398434,18278872,18203168,18060852,17993766,17956124,17891500,17726616,17686644,17621169,17601350,17553479,17548676,17540596,17436311,17352495,17327360,17319270,17311260,17311259,17160942,17119116,17087506,17035141,16953589,16941496,16792904,16791140,16709328,16601865,16541333,16505479,16479318,16470595,16422253,16375773,16363792,16328059,16274669,16259797,16205833,16189514,16115349,16013960,9590298,16780588,18029348,19527514,19493349,19429038,19424622,19370759,19267073,19238444,19166826,19161160,19112534,19074437,20140262,20717043,20737570,20883119,20890573,20939734,20948192,21045269,21055808,20506325,20601281,19913121,20544798,20559280,20565774,20615890,20628086,20634891,20707729,20718043,16007597,15975077,15972722,15922487,15889417,15772012,15755387,15748616,15719048,15554031,15544339,15520012,15503105,15489334,15365998,15354395,15228193,15082224,15009965,14977639,14670973,12889841,12855221,12815602,12725044,12649066,12642343,12529702,12477932,12439143,12427542,12413583,12393509,12379655,12269827,12228232,12186157,12180146,12173932,12154064,12124992,12082592,12020105,12015064,12007221,11872884,11758232,11748855,11672761,11575217,11528503,11483494,11457468,11434706,11359462,11359213,11341749,11310576,11292330,11204591,11173483,11149614,11074524,11013450,10830953,10791559,10462600,10434301,10408774,10338090,10215408,9889017,9790750,9466992,9383285,9361025,9266356,9156316,8990018,8803779,8755636,8528202,8353501,8022826,7981678,7967489,7903580,7849717,7762555,7635485,7611293,7598711,7564249,7506602,2894761,1301198,840498,681363,404147,19019082,20670920,20638879,21062078 1600622,1600624,1600626,1600627,1359024 875 AL531222,NM_001178008,NM_001178009,L00972,L14577,L19501,X82166,HB891684,HB906392,HB908636,HB919838,HB928571,HB944969,HC949093,HC963801,HC966045,HC977247,HC985980,HD002379,NG_008938,AF042836,AP001630,CH471079,CQ779398,DQ191754,X88562,AK294608,AK301063,AK313691,AL137314,BC000440,BC007257,BC010242,BC011381,BC012319,BT007154,CR605513,CR613114,CR624541,DC300040,NM_000071 NP_001171479,NP_001171480,AAA98524,AAA19874,CAA57656,P35520,Q3LR94,Q96EH7,Q9NTF0,ABM81955,ABM85134,CBF70474,CBF85738,CBF88264,CBF94917,CBF99203,CBG07230,CBU94756,CBV01862,CBV02957,CBV08437,CBV12723,CBV20752,NP_000062,AAC64683,AAC64684,EAX09507,EAX09508,EAX09509,EAX09510,EAX09511,EAX09512,EAX09513,EAX09514,EAX09515,CAG14912,ABA28318,CAA61252,BAH11822,BAH13401,BAG36440,CAB70691,AAH00440,AAH07257,AAH10242,AAH11381,AAH12319,AAP35818 Hs.533013 HIP4 OTTHUMP00000109416|beta-thionase|cystathionine beta synthase|cystathionine beta-synthase|methylcysteine synthase|serine sulfhydrase protein-coding 1348830 CBWD1 COBW domain containing 1 17353931,15489334,15233989,15164053,12477932,12421752,11489251,10931946,10867487,17207965 55871 NM_001145356,NM_018491,NM_001145355,AL356244,AL449043,AF212253,AF257330,AK290648,AK297292,AK315855,AY295766,AY320414,AY343911,BC005996,BC009573,BC013432,BC037212,BC132759,BU621970,CR590614,CR591843,CR609499,CR610931,CR614143,HH772046,HH772086,HH772092 NP_001138828,NP_060961,NP_001138827,CAH70542,CAH70543,CAH70544,AAK14935,AAF68990,BAF83337,BAH12539,BAF98746,AAP73813,AAQ76869,AAH05996,AAH09573,AAH13432,AAI32760,Q9BRT8,ADR83148,CBX86725,CBX86745,CBX86748,ADQ32099 Hs.531330,Hs.567539,Hs.645337 COBP|COBW domain-containing protein 1|COBW-like protein|NPC-A-6 COBW domain-containing protein 1|cobalamin synthase W domain-containing protein 1|cobalamin synthetase W domain-containing protein 1 protein-coding 1352030 CBWD2 COBW domain containing 2 17353931,16344560,15233989,12477932,12421752,9373149,8125298,16169070,19615732 150472 AC016745,AL078621,AF452722,AK124867,AK225251,AK290072,AK303653,AY343910,BC120991,BC120992,CR621231,DA296279,NM_172003,HH771664 Q8IUF1,Q6ZV90,NP_742000,CAO03555,AAN64907,BAC85973,BAF82761,BAH14006,AAQ76868,AAI20992,AAI20993,CBX86534 Hs.531330 COBW domain-containing protein 2|cobalamin synthase W domain-containing protein 2|cobalamin synthetase W domain-containing protein 2 protein-coding 1343748 CBWD3 COBW domain containing 3 16341674,15233989,12477932,12421752 445571 NM_201453,AL353608,AK297912,AY344633,BM786305,BU622154,CR601704,HH772028 NP_958861,CAI41162,CAI41163,CAI41164,CAI41165,CAI41166,CAI41167,BAG60231,AAQ76870,Q5JTY0,Q5JTY5,Q5RIB1,Q6VB91,AAI72342,CBX86716 Hs.645337 FLJ60409|bA561O23.1 COBW domain-containing protein 3|OTTHUMP00000021410|cobalamin synthase W domain-containing protein 3|cobalamin synthetase W domain-containing protein 3 protein-coding 1346367 CBWD4P COBW domain containing 4 pseudogene 445572 1601812 CBWD5 COBW domain containing 5 16344560,14702039,12477932,12421752,10867487,8889548,16169070 220869 NM_001024916,BX284632,AF065414,AF265442,AK092175,AK097639,AK292585,BC043420,BC067803,BC082271,BC141856,BM711778,DA288994,DB463072 NP_001020087,CAI14284,CAI14285,CAI14286,CAI14287,CAI14288,CAI14289,CAI14290,AAC17121,AAG44700,BAF85274,AAH43420,AAH67803,AAI41857,O60748,Q5JTY1,Q5RIA8,Q5RIA9,Q5RIB0,Q5RIB1,Q5RIB5,Q5RIB3,Q6NVZ8,Q9H2J8 Hs.355950,Hs.635227,Hs.645337,Hs.645504 DC36|FLJ34856|FLJ40320|FLJ77192|MGC167043|MGC44166 COBW domain-containing protein 5|COBW-like placental protein|cobalamin synthase W domain-containing protein 5|cobalamin synthetase W domain-containing protein 5|dopamine responsive protein protein-coding 1602602 CBWD6 COBW domain containing 6 12477932 644019 HH772008,NM_001085457,BX255923,AF293368,AK293173,BC069006,CR627025 CBX86706,NP_001078926,CAI94913,CAI94914,CAI94915,CAI94916,CAI94917,CAI94918,AAG10070,BAG56717,Q4V338,Q4V339,Q4V340,Q4V342,Q9HAZ6,Q4V337 Hs.597638,Hs.645337 DKFZp686L07117|FLJ60409 COBW domain-containing protein 6|OTTHUMP00000069835|cobalamin synthase W domain-containing protein 6|cobalamin synthetase W domain-containing protein 6 protein-coding 1625817 CBWD7 COBW domain containing 7 14702039,9847074 728013 XM_003119019,XM_003119020,XM_001717050,AC129778 XP_003119067,XP_003119068,XP_001717102,A6NM15 FLJ40320 COBW domain containing 7|OTTHUMP00000070163|OTTHUMP00000070165|putative COBW domain-containing protein 7|putative cobalamin synthase W domain-containing protein 7 protein-coding 1321782 CBX1 chromobox homolog 1 (HP1 beta homolog Drosophila ) This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 10330177,19486527,19615732,20195544,9636146,9169582,11101528,18599480,18590578,18438399,18239689,17575412,17081983,16615912,16547356,16344560,16169070,16127177,15947784,15899859,15635413,15489334,14651845,14585993,12867029,12711675,12560555,12560554,12477932,12414990,12054505,11959914,11882902,11790298,11336697,11242054,11242053,10882726,10747027,10562550,10549285,10460410,10202156,9454751,8287692,12111331,15120635,11793364,19661379,19706462,19759913,20935630,20308360,20498703 10951 NM_006807,NM_001127228,AC004477,AC006468,AF106801,CH471109,AK312615,BC002609,BC021302,CB053834,CR456766,CR611707,CR617932,DA020204,DA689514,DA781730,DB026977,U35451 NP_006798,NP_001120700,EAW94758,EAW94759,EAW94760,EAW94761,BAG35502,AAH02609,AAH21302,CAG33047,AAB81548,P83916,Q6IBN6,Q9Y654,ABZ92300,AAD21972 Hs.77254 CBX|HP1-BETA|HP1Hs-beta|HP1Hsbeta|M31|MOD1|p25beta HP1 beta|HP1 beta homolog|OTTHUMP00000197315|OTTHUMP00000197316|chromobox homolog 1 (HP1 beta homolog Drosophila )|chromobox protein homolog 1|heterochromatin protein 1 homolog beta|heterochromatin protein 1-beta|heterochromatin protein p25 beta|modifier 1 protein protein-coding 4107271 CBX1P1 chromobox homolog 1 pseudogene 1 645251 AL158203,AL365179,NG_007614 pseudo 4107204 CBX1P2 chromobox homolog 1 pseudogene 2 100147811 AL732371,NG_007618 pseudo 4107291 CBX1P3 chromobox homolog 1 pseudogene 3 100128723 AC096645,NG_007647 pseudo 4107194 CBX1P4 chromobox homolog 1 pseudogene 4 100130461 AL845433,NG_007646 pseudo 1342823 CBX2 chromobox homolog 2 (Pc class homolog, Drosophila) 1580863 19107218,16189514,15146197,12477932,10369680,9641679,7782071,2477932,1352241,1898775,19060904,2903050,3081265,19361780 84733 NM_032647,AC105337,CH471099,X77824,X77825,AL157459,BC004252,BC119759,BC119760,BX110913,CN367085,CN367087,CN367098,NM_005189,CV815254,DB452048,NG_016986 NP_005180,NP_116036,EAW89568,EAW89569,CAA54839,AAH04252,AAI19760,AAI19761,Q14781,AAI56119,AAI57075,ABZ92071 Hs.368410 CDCA6|M33|MGC10561 M33 polycomb-like|Pc class homolog|cell division cycle associated 6|chromobox homolog 2 (Pc class homolog, Drosophila)|chromobox protein homolog 2|modifier 3 protein-coding 1352044 CBX3 chromobox homolog 3 (HP1 gamma homolog, Drosophila) At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene. [provided by RefSeq] 1580863 9636147,8663349,11101528,11124534,18618731,18239689,18172013,18032920,17575412,17381543,17245432,17081983,16964243,16954381,16945326,16713569,16127177,16083285,15635413,15502821,15489334,15322135,15009096,12690205,12560555,12485163,12477932,12054505,12004135,11959914,11336697,11242053,10664448,10562550,10460410,10330177,9864353,9636146,9454751,19144645,20675861,20936779,9169472,12414990,15120635,11793364,17468742,17540172,18029348,19486527,19615732 11335 NM_016587,AC010677,CH236948,CH471073,AB030905,AF136630,AL542267,BC000954,BC014380,BX647444,BX648807,CR596733,CR597648,NM_007276,CR605399,CR617945,CR623845,U26312 NP_009207,NP_057671,EAL24235,EAW93842,EAW93843,EAW93844,EAW93845,EAW93846,BAA83340,AAF62370,AAH00954,AAH14380,AAB48101,Q13185,ACE87369,ACE86685 Hs.381189,Hs.706294 HECH|HP1-GAMMA|HP1Hs-gamma HP1 gamma homolog|OTTHUMP00000202463|chromobox homolog 3 (HP1 gamma homolog, Drosophila)|chromobox protein homolog 3|heterochromatin protein 1 homolog gamma|heterochromatin protein HP1 gamma|heterochromatin-like protein 1|modifier 2 protein protein-coding 2291773 CBX3P1 chromobox homolog 3 pseudogene 1 10763413 159770 NG_001315,AC103796,AF063304 pseudo 1348844 CBX4 chromobox homolog 4 (Pc class homolog, Drosophila) 1580863 9858600,9858531,9199346,12829790,16169070,14638676,15563468,9315667,9367786,18567530,18178578,18029348,17081983,17018294,16061479,15710417,15592428,15489334,12679040,12477932,12167701,12101246,11583618,15231748,17087506,17428788,18453536,19933700,19336002 8535 NM_003655,AC100791,CH471099,AF013956,AI796748,AY390430,BC014967,BG029608,BQ225831,CR616461,EU439707,U94344 NP_003646,EAW89572,EAW89573,AAB80718,AAQ97596,AAH14967,ACA49234,AAB62734,O00257,Q6TPI8 Hs.727626 NBP16|PC2|hPC2 E3 SUMO-protein ligase CBX4|NS5ATP1-binding protein 16|OTTHUMP00000197309|Pc class 2 homolog|chromobox homolog 4 (Pc class homolog, Drosophila)|chromobox protein homolog 4|polycomb 2 homolog protein-coding 1315340 CBX5 chromobox homolog 5 (HP1 alpha homolog, Drosophila) This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 20498703,10330177,11313457,17540172,17698499,18029348,19479850,19486527,19498464,19566924,19567367,19617346,19666599,19783980,19880879,20011120,20049717,20110566,20154359,20231385,15342556,15196694,14730304,14702039,14585993,12867029,12711603,12692243,12565857,12560555,12485163,12477932,12414990,12411497,12242305,12154074,12054505,11959914,11942629,11336697,11242054,11242053,11112778,10938122,10882726,10562550,10460410,9454751,9169472,8864858,8505380,12697822,11484059,10549285,15120635,11793364,11799066,11516652,15723802,20562864,9636146,9636147,9864353,15502821,16177824,8663349,19352502,18809684,18676401,18264112,17470536,17381543,17213182,17101789,16762841,16648629,16487625,16189514,16127177,15899859,15882967,15635413,15489334,15454574,20421743 23468 NM_012117,NM_001127321,NM_001127322,AC078778,CH471054,AF147443,AK023520,AK056315,AK095108,AK313506,BC006821,BC030149,BP236173,BP336150,CR457418,CR605190,CR605673,DT217255,L07515,S62077,U26311,AK055641,BC047432,CR620309 NP_036249,NP_001120793,NP_001120794,EAW96758,EAW96759,EAW96760,BAG36286,AAH06821,CAG33699,AAA72327,AAB26994,AAC50553,P45973,Q6I9T7,ABZ92153,ABZ92313 Hs.349283 HP1|HP1A HP1 alpha|HP1 alpha homolog|HP1-ALPHA|HP1Hs alpha|antigen p25|chromobox homolog 5 (HP1 alpha homolog, Drosophila)|chromobox protein homolog 5|heterochromatin protein 1 homolog alpha|heterochromatin protein 1-alpha protein-coding 4107152 CBX5P1 chromobox homolog 5 pseudogene 1 100151661 AC119733,NG_007668 pseudo 1316437 CBX6 chromobox homolog 6 1580863 15489334,14702039,12477932,10591208,20211142,20972438,15203218 23466 NM_014292,AL008583,CH471095,AK094829,AK293035,BC012111,BC064900,CD625491,CR592957,CR621248,HI574266 ABM86713,NP_055107,CAA15431,EAW60276,BAG52939,BAF85724,AAH12111,AAH64900,O95503,ABM84593,CBX47622 Hs.592201 chromobox protein homolog 6 protein-coding 1353483 CBX7 chromobox homolog 7 1580863 18686603,19706751,18984978,18701502,17374722,15897876,15489334,19636380,20542683,20723236,14647293,12477932,10591208,20541999 23492 NM_175709,AL031846,CH471095,BC051773,BC128418,CR594018,DQ064603 NP_783640,CAB36555,CAQ07274,CAQ07275,EAW60297,EAW60298,EAW60299,EAW60300,EAW60301,AAH51773,AAY68391,O95931,Q4PNR6,ABZ92314 Hs.356416 chromobox protein homolog 7 protein-coding 1351003 CBX8 chromobox homolog 8 (Pc class homolog, Drosophila) 1580863 18029348,19636380,17332741,16169070,15489334,15009096,14702039,12477932,12167701,11439343,11313972,10825164,17936708 57332 NM_020649,AC100791,CH471099,AF174482,AF266479,AK074560,BC008937,BC009376,BC019289,CR591848,CR600853 NP_065700,EAW89571,AAG09180,AAF76328,BAC11061,AAH08937,AAH09376,AAH19289,Q9HC52,ABZ92360 Hs.387258 HPC3|PC3|RC1 OTTHUMP00000197311|OTTHUMP00000197312|Pc class 3 homolog|chromobox homolog 8 (Pc class homolog, Drosophila)|chromobox protein homolog 8|polycomb 3|rectachrome 1 protein-coding 1348208 CBX9 chromobox homolog 9 285320,100133259 XM_210557,AC128686,NG_007645 CBX9 pseudo 1343969 CBY1 chibby homolog 1 (Drosophila) Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 12712206,15194699,19527514,19435523,19019335,18818748,18663750,18573912,17905836,17403895,16713569,16570344,15489334,15461802,15245581,12529303,12477932,11337467,11230166,10591208,19940019,20096688,15203218,20140262 25776 AL050345,AL136686,AU099418,BC008839,BC016139,CD626926,CD702742,CR456410,CR602591,CR610817,CR619995,NM_015373,AL021707,BK005534,CH471095,AB015347,AB111855,AF331041,AK307265,AK311928,NM_001002880 BAG34869,CAB43547,CAB66621,AAH16139,CAG30296,Q9Y3M2,ADR82759,NP_001002880,NP_056188,CAB63442,CAQ07903,CAQ07904,DAA05582,EAW60254,EAW60255,EAW60256,BAA88119,BAC78839,AAL56062 Hs.334911,Hs.718728 C22orf2|CBY|HS508I15A|PGEA1|PIGEA-14|PIGEA14|arb1 ARPP-binding protein|OTTHUMP00000198876|OTTHUMP00000198878|PKD2 interactor, Golgi and endoplasmic reticulum-associated 1|PKD2 interactor, golgi and endoplasmic reticulum associated 1|coiled-coil protein PIGEA-14|cytosolic leucine-rich protein|pkd2 interactor, golgi and endoplasmic reticulum associated 1|polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa|protein chibby homolog 1 protein-coding 1605449 CBY3 chibby homolog 3 (Drosophila) 15372022 646019 NM_001164444,AC136604,BX110582 NP_001157916,A6NI87 Hs.535767 protein chibby homolog 3 protein-coding 1606546 CC2D1A coiled-coil and C2 domain containing 1A 12761501,18029348,18806297,18662999,17714190,17535813,17394259,17084358,16964243,16344560,20529849,15592455,15534042,15489334,14756806,14702039,14569116,12477932,16033914,16730941,19948489,20171170 54862 NM_017721,AC020916,CH471106,AB097002,AF536205,AK000248,AK023399,AK026371,AK315068,BC006556,BC048345,BC064981,BC113968,BP395853,CR608350,DB065701,AK123155,NG_013089 NP_060191,EAW84380,BAC77355,AAN04488,BAA91029,BAB14561,AAH48345,AAH64981,AAI13969,Q6P1N0,Q9H8P7,Q9NX28,BAB15464 Hs.269592 FLJ20241|FLJ41160|FREUD-1|Freud-1/Aki1|MRT3 Akt kinase-interacting protein 1|FRE under dual repression-binding protein 1|coiled-coil and C2 domain-containing protein 1A|five repressor element under dual repression-binding protein 1|mental retardation, nonsyndromic, autosomal recessive, 3|putative NF-kappa-B-activating protein 023N|putative NFkB activating protein protein-coding 1603884 CC2D1B coiled-coil and C2 domain containing 1B 8889548,17084358,17084357,15146197,14702039,12477932,11347906,19423080 200014 BM975102,BQ073406,DB458797,NM_032449,AL513218,CH471059,AB058739,AK093605,AK095487,AK130874,BC007912,BC014080,BC016880,BC039308,BX337298,CN279193 NP_115825,CAI12281,CAI12282,CAI12283,CAI12284,EAX06785,EAX06786,EAX06787,EAX06788,EAX06789,BAB47465,BAC85450,AAH07912,AAH16880,AAH39308,Q5T0F9,Q5T0G1 Hs.591451 KIAA1836|RP11-155O18.2 OTTHUMP00000009794|OTTHUMP00000009795|OTTHUMP00000009796|coiled-coil and C2 domain-containing protein 1B protein-coding 2289739 CC2D2A coiled-coil and C2 domain containing 2A 21068128,19574260,19777577,19068953,18950740,18513680,18387594,16344560,14702039,12477932,10718198,20585324 57545 AI376394,CH471069,CR605361,DA860072,NG_013035,NM_001164720,NM_001080522,NM_020785,AC007016,AC116651,AA441801,AB037766,AK023876,AK025543,AK096047,AK309178,BC053865,BC061921,BC070395,BC103710,BX647334,CF528984,CR602853,CR622306,DB043556,EU450799,N35522 EAW92734,NP_001158192,Q8WVL8,NP_001073991,NP_065836,BAA92583,BAB14710,AAI03711,ACC96081,Q9P2K1,BAG10039 Hs.590928 JBTS9|KIAA1345|MKS6 OTTHUMP00000217872|OTTHUMP00000217873|coiled-coil and C2 domain-containing protein 2A protein-coding 1321297 CC2D2B coiled-coil and C2 domain containing 2B 16385451,16344560,15489334,15164054,14702039,12477932 387707 NM_001001732,NM_001159747,AL356155,AL513355,CH471066,AK022203,AK302377,BC075861,DB026257 CAX12748,NP_001001732,NP_001153219,CAM22929,CAH71692,EAW49985,BAG63696,AAH75861,Q6DHV5,Q6ZW91 Hs.538374,Hs.652240 C10orf130|FLJ12141|bA248J23.4 OTTHUMP00000205754|protein CC2D2B protein-coding 1345009 CCA1 cataract, congenital, cerulean type, 1 7704021 878 1345688 CCAL1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) 7887424 882 1345566 CCAR1 cell division cycle and apoptosis regulator 1 737633,1580863 12226669,18029348,19073175,18722177,18382127,18321953,17513614,17081983,16543231,15489334,15302935,15164054,15069192,14743216,14702039,12816952,12477932,18655026,20562859,16712791,16341674,16385451,19520846 737633 55749 AL391539,AL513534,CH471083,AF465616,AK000741,AK001701,AK023438,AK122871,AK292649,AK298004,AK299307,AK307550,AK307671,AK307704,AY249140,BC015475,BC026036,NM_018237,BC058846,BC089420,BC108682,BC130626,BC132725,BC144118,BM786237,BM905703,BU181074,BX647943,CB136079,HI574014 NP_060707,CAH73835,CAH70221,EAW54300,EAW54301,EAW54302,AAO17319,BAA91354,BAA91847,BAB14574,BAF85338,BAG60310,BAG61320,AAP82002,AAH15475,AAH26036,AAH89420,AAI08683,AAI30627,AAI32726,Q8IX12,CBX47496 Hs.49853 MGC44628|RP11-437A18.1 cell cycle and apoptosis regulatory protein 1|cell division cycle and apoptosis regulator protein 1|death inducer with SAP domain protein-coding 1349229 CCAT cataract, congenital 880 1349047 CCBE1 collagen and calcium binding EGF domains 1 19287381,18519826,18466450,14702039,12975309,12477932,11853319,19911200,19935664,19935792,20379614 147372 NM_133459,AC010776,AC016229,AC090213,CH471096,AB075863,AF087966,AK055243,AY358347,BC046645,BF434122,BX640826,CR612948,CX782134,BF515087,EY892390,NG_016990,HC883734 NP_597716,EAW63100,EAW63101,BAB85569,AAQ88713,AAH46645,CAE45902,Q6UXH8,CBM42919 Hs.34333 FLJ30681|MGC50861 collagen and calcium-binding EGF domain-containing protein 1|full of fluid protein homolog protein-coding 1315794 CCBL1 cysteine conjugate-beta lyase, cytoplasmic This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq] 2306289,1580863 15364907,19338303,7883047,18342615,10369878,8968194,8736988,7814371,2139845,17207965,16828464,16463021,16376499,16344560,15489334,15164053,15016471,14702039,12477932,18029348 2306289 883 NM_004059,NM_001122671,NM_001122672,AL441992,AL672142,CH471090,Y17447,Y17448,AK094505,AK291178,AK297995,AK314427,AU123740,AW073815,BC013069,BC021262,BC022468,BC033685,BI755163,BU622726,CR606096,CR619510,DA381449,EL733697,X82224 NP_004050,NP_001116143,NP_001116144,CAI15414,CAI15415,CAI15416,CAI15417,CAI15418,EAW87840,EAW87841,CAB44342,CAB44343,BAG52878,BAF83867,BAH12701,BAG37043,AAH21262,AAH33685,CAA57702,Q16773,Q5T276,Q5T278,Q9UQN6,Q9UQN7 Hs.495250 FLJ95217|GTK|KAT1|KATI|MGC29624 beta-lysase, kidney|cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)|cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase k, kyneurenine aminotransferase)|cysteine-S-conjugate beta-lyase|glutamine transaminase K|glutamine--phenylpyruvate transaminase|glutamine-phenylpyruvate aminotransferase|kyneurenine aminotransferase|kynurenine aminotransferase I|kynurenine--oxoglutarate transaminase 1|kynurenine--oxoglutarate transaminase I protein-coding 1606260 CCBL2 cysteine conjugate-beta lyase 2 This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. One of the transcripts encodes a predicted protein that has sequence identity to the protein encoded by the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq] 20877624,19165527,16376499,14702039,12477932,11181995,10441733,8889548,16169070,20379614 56267 NM_001008662,NM_001008661,AL139416,AL445991,CH471097,AF091090,AI478599,AK057176,AK301326,AK315917,AL833593,AY028624,BC000819,BM728982,CR450282,CR608245,CR614429,CR615627,CR627392,DC424120 NP_001008662,NP_001008661,CAI21695,CAI21696,CAI41339,CAI41340,CAI41345,EAW73154,EAW73157,EAW73158,AAC72959,BAG51875,BAG62875,BAH14288,AAK26163,AAH00819,CAG29278,CAH10487,Q6YP21 Hs.481898 DKFZp547N1117|DKFZp667D0223|KAT3|KATIII|MGC9398|RBM1|RBMXL1|RP11-82K18.3|RP4-531M19.2 cysteine-S-conjugate beta-lyase 2|kynurenine aminotransferase III|kynurenine--glyoxylate transaminase|kynurenine--oxoglutarate transaminase 3|kynurenine--oxoglutarate transaminase III|kynurenine-oxoglutarate transaminase 3 protein-coding 1353783 CCBP2 chemokine binding protein 2 This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq] 632634,1580863 9364936,18822328,18714007,18708360,18676013,18201974,17607362,16814608,16344560,15489334,15084596,12671049,12594248,12477932,12406880,11821900,11238036,10781587,10725697,10725696,10706668,10702689,15067078,19074885,19446728,19632987,20147628,20237496,20404785,10364178,9405404,9139699,16014924 632634 1238 NM_001296,AC099329,AF481959,AY262687,CH471055,AK313561,BC008816,BC011588,BC011631,BC018716,BC020558,BC101629,BC112045,BE901130,BT006800,CR610139,DA853159,DQ229109,U94888,Y12815,HC006866 NP_001287,AAP42156,AAP20651,EAW64678,EAW64679,EAW64680,EAW64681,BAG36335,AAH08816,AAH11631,AAH20558,AAI01630,AAI12046,AAP35446,AAB97728,CAA73346,O00590,Q7Z7I1,ACE87069,CBH19238 Hs.146346 CCR10|CCR9|CMKBR9|D6|MGC126678|MGC138250|hD6 C-C chemokine receptor D6|CC-chemokine-binding receptor JAB61|OTTHUMP00000164034|OTTHUMP00000209653|chemokine (C-C motif) receptor 9|chemokine (C-C) receptor 9|chemokine receptor CCR-10|chemokine receptor CCR-9|chemokine receptor D6|chemokine-binding protein 2|chemokine-binding protein D6 protein-coding 1604249 CCDC101 coiled-coil domain containing 101 16189514,15489334,14702039,12477932,8889549,17334388,18838386,19615732,19915574 112869 NM_138414,AC020765,CH471279,AA132314,AA132818,AK057008,BC011981 NP_612423,EAW52272,BAB71340,AAH11981,Q96ES7 Hs.655476 FLJ32446|SGF29|STAF36 SAGA-associated factor 29 homolog|coiled-coil domain-containing protein 101 protein-coding 1605307 CCDC102A coiled-coil domain containing 102A 15489334,12477932 92922 NM_033212,AC004382,CH471092,BC004307,BC008285,BC009941,CA449463 NP_149989,EAW82935,AAH04307,AAH08285,AAH09941,Q96A19,ABM83575,ABM86814 Hs.644611 MGC10992|MGC13119 coiled-coil domain-containing protein 102A protein-coding 1344849 CCDC102B coiled-coil domain containing 102B 16344560,15489334,14702039,12477932,9373149,8125298,1707030,20379614 79839 NM_024781,AC011087,AC022035,AC040896,AC096708,CH471117,AK027247,AK057282,AK091108,AK225597,AK308114,AL833863,BC056269,BC126448,BC126450,NM_001093729,BQ003970,CK823962,CR749520,DB020599,DC380577,DC382329 NP_001087198,NP_079057,EAW66511,EAW66512,BAB15706,CAD38721,AAH56269,AAI26449,AAI26451,CAH18334,Q68D86 Hs.280781 ACY1L|AN|C18orf14|DKFZp434K1426|DKFZp686I08254|FLJ23594|HsT1731|MGC161726|MGC161728 aminoacylase 1-like|coiled-coil domain-containing protein 102B protein-coding 1602038 CCDC103 coiled-coil domain containing 103 15489334,14702039,12477932,17207965 388389 NM_213607,AC015936,CH471178,AK023156,AK091530,AK289760,BC041060 NP_998772,EAW51572,BAF82449,AAH41060,Q8IW40,ADQ32094 Hs.514222 FLJ13094|FLJ34211 OTTHUMP00000205387|coiled-coil domain-containing protein 103 protein-coding 1603927 CCDC104 coiled-coil domain containing 104 15815621,15489334,12975309,12477932,18029348,20936779 112942 NM_080667,AC015982,AC019198,CH471053,AK308776,AK309764,AY358097,BC010011,BM993564,CR612291,BC001797 NP_542398,AAY24269,AAY14933,EAX00097,EAX00098,AAQ88464,AAH10011,Q96G28,ABM84008,ABM87342 Hs.264208 MGC15407 coiled-coil domain-containing protein 104 protein-coding 1602986 CCDC105 coiled-coil domain containing 105 19773279,14702039,12477932 126402 AC004659,AC104528,CH471106,AK097684,AL833847,BC035678,NM_173482 NP_775753,EAW84458,BAC05142,CAD38706,AAH35678,Q8IYK2 Hs.375985 FLJ40365 coiled-coil domain-containing protein 105 protein-coding 1607037 CCDC106 coiled-coil domain containing 106 15790807,12477932,9110174,8619474,16169070,15489334,14702039,20159018 29903 NM_013301,AC008735,CH471135,AF054984,AK097095,AY927563,AY927628,BC000412,BC008956,BI907663,CR450308,CR593563,CR597631,CR604697,CR605840,CR608767,CR610458,CR611450,CR612899,CR622650,U79303,GU354321,GU354322,GU354323 NP_037433,EAW72401,BAG53421,AAH00412,AAH08956,CAG29304,AAB50227,Q9BWC9,ABZ92128,ADC34060,ADC34061,ADC34062 Hs.82482 HSU79303|ZNF581 coiled-coil domain-containing protein 106|protein predicted by clone 23882 protein-coding 1605844 CCDC107 coiled-coil domain containing 107 8889548,16713569,15489334,15164053,12477932 203260 CS051361,AK307223,BE903559,BM973388,DC410699,NM_001195200,NM_001195201,NM_001195217,NM_174923,AL357874,CH471071,AK075523,BC018758,BC051285,CR619888,DQ884403 CAI72175,NP_001182129,NP_001182130,NP_001182146,NP_777583,CAI13447,CAI13448,CAI13449,CAI13450,CAI13451,EAW58364,EAW58365,EAW58366,EAW58367,EAW58368,EAW58369,BAC11669,AAH18758,AAH51285,ABI63370,Q8WV48,ABM82866,ABM86052 Hs.534579 FLJ97171|MGC31967|PSEC0222|RP11-331F9.6 OTTHUMP00000021336|OTTHUMP00000021337|coiled-coil domain-containing protein 107 protein-coding 1606123 CCDC108 coiled-coil domain containing 108 12477932 255101 NM_194302,NM_152389,AC097468,AK123235,AK125957,AK127189,AL048936,AL833882,BC031585,BC039688,BC047637,BC130281,BG723301,BX649039,AK302678,AK302688 NP_919278,NP_689602,AAX88919,BAC85566,BAC86362,BAC86878,CAD38738,AAH31585,AAH47637,AAI30282,Q49A14,Q4ZFW9,Q6ZU64,Q6ZWD7,BAG63910,BAG63917 Hs.147762 DKFZp434O0527|MGC35338 OTTHUMP00000163969|OTTHUMP00000163970|OTTHUMP00000206325|coiled-coil domain-containing protein 108 protein-coding 1343502 CCDC109A coiled-coil domain containing 109A 15489334,12477932,20877624 90550 NM_138357,AC016542,AC069548,CH471083,AK025699,AK075439,AK128016,AK301475,AK310455,AK311133,AK315519,BC010682,BC034235 NP_612366,EAW54460,EAW54461,EAW54462,BAG54619,BAG62992,BAG37900,AAH10682,AAH34235,Q8NE86 Hs.591366 C10orf42|FLJ46135 coiled-coil domain-containing protein 109A protein-coding 1602886 CCDC109B coiled-coil domain containing 109B 16341674,15489334,15146197,14702039,12477932,16169070,19773279,20332099,17207965 55013 NM_017918,AC004067,AC105314,CH471057,AK000654,AK095936,AK291098,AK311030,AL832311,BC002633,BM830891,CN427680,CR457234 NP_060388,EAX06242,EAX06243,BAA91309,BAF83787,AAH02633,CAG33515,Q9NWR8,ADQ31823 Hs.234149 FLJ20647 coiled-coil domain-containing protein 109B protein-coding 1344036 CCDC11 coiled-coil domain containing 11 737633 15489334,14702039,12477932,16189514,20379614 737633 220136 NM_145020,AC090246,CH471096,AK057305,AK302114,BC030606 NP_659457,EAW62960,EAW62961,BAB71418,BAG63493,AAH30606,Q96M91 Hs.658630 FLJ32743 coiled-coil domain-containing protein 11 protein-coding 1606416 CCDC110 coiled-coil domain containing 110 18160854,15489334,15447989,12477932,14702039 256309 NM_001145411,NM_152775,AC106897,CH471056,AB080722,AI949455,AK097605,AK302815,AL833337,BC028419,BC038515,BU567268,BX641119,DB453450 NP_001138883,NP_689988,EAX04642,EAX04643,BAC81776,BAC05116,BAG64014,AAH28419,AAH38515,Q8TBZ0,ABM85671 Hs.41101 CT52|KM-HN-1|KMHN1|MGC33607 OTTHUMP00000218166|OTTHUMP00000218206|cancer/testis antigen 52|cancer/testis antigen KM-HN-1|coiled-coil domain-containing protein 110 protein-coding 1605846 CCDC111 coiled-coil domain containing 111 14702039,12477932,15489334,15342556,19773279 201973 NM_152683,AC079257,CH471056,AK057729,AK307317,BC018930,BC047467,BC064600,BP245596,BX647575,CR606183 NP_689896,EAX04667,EAX04668,EAX04669,EAX04670,EAX04671,EAX04672,BAB71553,AAH64600,CAI46079,Q96LW4 Hs.481307 FLJ33167 OTTHUMP00000218322|OTTHUMP00000218323|OTTHUMP00000218325|coiled-coil domain-containing protein 111 protein-coding 1606143 CCDC112 coiled-coil domain containing 112 16189514,15146197,12477932,8889548,17207965 153733 NM_001040440,NM_152549,AC008494,CH471086,AJ580807,BC031242,BM873447,BM873516,BM975079,CN310912,CR604116,CX786155,DB451908,DB455340,DB476530 NP_001035530,NP_689762,EAW48966,EAW48967,CAE45342,AAH31242,Q8NEF3,ADQ31767 Hs.436121 MBC1|MGC39633 OTTHUMP00000222913|OTTHUMP00000222914|coiled-coil domain-containing protein 112|mutated in bladder cancer 1|mutated in bladder cancer protein 1 protein-coding 1606018 CCDC113 coiled-coil domain containing 113 11256614,16381901,15489336,15489334,12477932,11230166,11076863,11042152,16169070 29070 NM_014157,NM_001142302,AC009107,CH471092,AF161550,AK027208,AK299066,AK314300,AL136785,BC126445,BC126447,CR533506,DC369542 NP_054876,NP_001135774,EAW82970,AAF29037,BAB15692,BAG61132,BAG36954,CAB66719,AAI26446,AAI26448,CAG38537,Q9H0I3,Q9H5D5,CAL37709,ADR82957 Hs.11614 DKFZp434N1418|FLJ23555|HSPC065 coiled-coil domain-containing protein 113 protein-coding 1602080 CCDC114 coiled-coil domain containing 114 16344560,14702039,12477932,19913121,20628086 93233 NM_144577,AC008392,CH471177,AK057357,AK057488,AK128144,AL122083,BC007730,BC025752,BC031619,BC117431,BC117433,BX101994,DB060305 NP_653178,EAW52327,EAW52328,EAW52329,EAW52330,EAW52331,EAW52332,BAB71448,BAB71508,BAC87296,CAB59257,AAI17432,AAI17434 Hs.112645 FLJ32926 coiled-coil domain containing 114 protein-coding 1603946 CCDC115 coiled-coil domain containing 115 14702039,12477932,21118521 84317 CR591728,CR600871,CR603465,CR618993,CR621252,CR626420,NM_032357,AC132479,CH471263,AK054693,AK124405,BC006429,AK295922 AAH06429,Q96NT0,NP_115733,AAY24075,EAW55610,EAW55611,EAW55612,BAB70794,BAG58709 Hs.104203 FLJ30131|MGC12981|ccp1 OTTHUMP00000204515|OTTHUMP00000204516|coiled-coil domain-containing protein 115 protein-coding 1602289 CCDC116 coiled-coil domain containing 116 16396496,16189514,15489334,14702039,12477932 164592 NM_152612,AP000553,CH471095,AK093365,BC033499,AK302030,HC006868 NP_689825,EAW59465,EAW59466,BAC04145,AAH33499,Q8IYX3,BAH13611,CBH19239 Hs.131615 FLJ36046 OTTHUMP00000198557|coiled-coil domain-containing protein 116 protein-coding 1602294 CCDC117 coiled-coil domain containing 117 18029348,15489334,15461802,14702039,12477932,10591208 150275 NM_173510,AL023494,CH471095,CS185626,Z93930,AK091133,AK092636,AK289516,BC040488,BC053874,BC065549,CR456461,AK295140,AK302798,AK302925 NP_775781,CAI20338,EAW59761,EAW59762,CAJ42807,CAI17952,BAC03592,BAF82205,AAH40488,AAH53874,AAH65549,CAG30347,Q8IWD4,BAH11987,BAH13806,BAH13846 Hs.406460 FLJ33814|dJ366L4.1 coiled-coil domain-containing protein 117 protein-coding 1343271 CCDC12 coiled-coil domain containing 12 737633 15489334,14702039,12477932,8889548,17207965 737633 151903 NM_144716,AC094020,AC109583,CH471055,AK096749,AK098120,AK295532,AK303160,BC020830,BM676030,CV574708 NP_653317,EAW64795,EAW64796,EAW64797,EAW64798,EAW64799,BAC04857,BAG58444,BAG64261,AAH20830,Q8WUD4,ADQ32239 Hs.631918,Hs.692157 FLJ39430|FLJ40801|MGC23918 OTTHUMP00000164781|coiled-coil domain-containing protein 12 protein-coding 1606197 CCDC120 coiled-coil domain containing 120 19447967,16344560,16189514,15489334,14702039,12477932,19377476 90060 NM_033626,NM_001163321,NM_001163322,NM_001163323,AF196779,CH471224,AK001937,AK056290,AK125424,AK291370,AK293898,AK294024,AK300366,AK315837,BC008769,DA105393,NG_016255 ABW03839,ABW03534,ABM87192,NP_296375,NP_001156793,NP_001156794,NP_001156795,EAW50708,EAW50709,EAW50710,BAF84059,BAG57285,BAG57382,BAG62104,BAF98728,AAH08769,Q96HB5,ABM83863,ABM84608,ABM87185 Hs.522643 JM11 coiled-coil domain-containing protein 120 protein-coding 1603009 CCDC121 coiled-coil domain containing 121 14702039,12477932,11181995,16344560 79635 CH471053,AK023708,AK124337,AK125354,BC056244,BC066936,BC066969,NM_024584,AC074091,DB044538,DB325100,DB444296,DB452051,DB554665,NM_001142683 AAX93200,EAX00561,BAB14651,BAG54028,BAC86143,AAH66936,AAH66969,Q6ZUS5,NP_078860,EAX00560,NP_001136155 Hs.21081 FLJ13646|FLJ43364 coiled-coil domain-containing protein 121 protein-coding 1602063 CCDC122 coiled-coil domain containing 122 17672918,16344560,14702039,12477932,20018961 160857 NM_144974,AL512506,CH471075,AK056408,AW373287,BC137289,BC137290,BC144570,BC144571,CA427248,DA739121 NP_659411,CAI16114,EAX08697,EAX08698,EAX08699,EAX08700,BAB71178,AAI37290,AAI37291,AAI44571,AAI44572,Q5T0U0 Hs.170849 FLJ31846 coiled-coil domain-containing protein 122 protein-coding 1605924 CCDC123 coiled-coil domain containing 123 16395595,14702039,12477932,20383145,20383146 84902 NM_032816,AC008805,AC011449,AC119048,AK027546,AL832158,BC020195,BC029978,BC032307,BC136328,BE208545,BU196203,BU628988,BU630455,CR593458 NP_116205,BAB55190,AAH20195,AAH32307,AAI36329,Q8WUL5,Q96ST8 Hs.599703 FLJ14640 coiled-coil domain-containing protein 123, mitochondrial protein-coding 1605304 CCDC124 coiled-coil domain containing 124 15489334,15342556,12477932,17207965 115098 NM_001136203,NM_138442,AC005602,AC011540,CH471106,AF086307,BC013949,BG829184,BM998230,BP309483,BQ669035,DB503140 NP_001129675,NP_612451,EAW84644,EAW84645,AAH13949,Q96CT7,ADQ32220 Hs.100043 coiled-coil domain-containing protein 124 protein-coding 1604973 CCDC125 coiled-coil domain containing 125 12477932,19787194 202243 NM_176816,AC145132,AC145145,CH471137,AB024691,AB024692,AI141520,AK299871,AL832658,BC108715,BC113749,BQ923745 NP_789786,EAW51298,EAW51299,BAC57450,BAC57451,BAG61723,AAI13750,Q2HJ12,Q86Z20,AAI60002 Hs.654850 KENAE Kenae|OTTHUMP00000161932|OTTHUMP00000192869|OTTHUMP00000222129|coiled-coil domain-containing protein 125|protein kenae protein-coding 1602081 CCDC126 coiled-coil domain containing 126 12975309,12690205,12477932,9847074 90693 NM_138771,AC006026,CH236948,CH471073,AK026684,AK289911,AL598772,AY358713,BC012427,BC104638 NP_620126,AAQ96871,EAL24252,EAW93792,EAW93793,EAW93794,EAW93795,EAW93796,BAF82600,AAQ89075,AAH12427,AAI04639,Q96EE4 Hs.232296 FLJ23031|MGC104248 OTTHUMP00000202196|OTTHUMP00000202197|alpha-1,3(6)-mannosylglycoprotein beta-1,6-N-acetyl-glucosaminyltransferase-like|coiled-coil domain-containing protein 126 protein-coding 1603363 CCDC127 coiled-coil domain containing 127 15489334,15231748,14702039,12477932,17207965 133957 CR615991,NM_145265,AC021087,CH471235,AK098567,BC015349,CR602658,CR603714,CR608728,CR609137,CR614339 Q96BQ5,NP_660308,EAW50981,BAC05336,AAH15349,ADQ31884 Hs.294145 FLJ25701 OTTHUMP00000220453|coiled-coil domain-containing protein 127 protein-coding 1604967 CCDC129 coiled-coil domain containing 129 14702039,12477932,20379614 223075 NM_194300,AACC02000087,AC005090,AC006044,AK095663,AK128026,AK295011,AK304387,BC132719 NP_919276,EAL24442,BAG53101,BAC87235,BAG58071,BAG65223,AAI32720,Q6ZRS4 Hs.224269 FLJ38344 OTTHUMP00000202960|coiled-coil domain-containing protein 129 protein-coding 1350707 CCDC13 coiled-coil domain containing 13 737633 15489334,12477932,8889548,20379614 737633 152206 NM_144719,AC006059,AC099329,CH471055,AK058196,AK302859,BC036050,BM664398 NP_653320,EAW64669,EAW64670,EAW64671,BAB71711,BAG64044,AAH36050,Q8IYE1,Q96LI1 Hs.604182 FLJ25467 coiled-coil domain-containing protein 13 protein-coding 1604584 CCDC130 coiled-coil domain containing 130 16189514,3203696,17081983,15489334,14702039,16169070,12477932,17207965 81576 NM_030818,AC008686,CH471106,X13956,AF250306,AK098262,AK293927,BC002905,CR594316,CR594740,CR598416,CR617165,CR618086,CR618784,CR620805 NP_110445,EAW84367,EAW84368,AAK37425,BAG53603,BAH11628,AAH02905,P13994,CAA32138,ADQ31796 Hs.24998 MGC10471 9 kDa protein|coiled-coil domain-containing protein 130 protein-coding 1604352 CCDC132 coiled-coil domain containing 132 19913121,20628086,14702039,12853948,12690205,12477932,11347906,17207965 55610 NM_024553,AC002379,AC002453,CH236949,CH471091,AA724937,AB058764,AK000104,AK027234,AK055965,AK126478,AK299582,AL832393,AL833112,BC017888,BC035984,BC047757,BC108708,BC132740,BC132742,BC152424,NM_017667,CB985373,CR597934,AB100163 NP_060137,NP_078829,AAS02013,AAS02014,AAS02023,EAL24143,EAW76815,EAW76816,EAW76817,EAW76818,EAW76819,EAW76820,EAW76821,BAB47490,BAA90948,BAB15701,BAG54334,BAG61517,CAI46135,AAH17888,AAI08709,AAI32741,AAI32743,AAI52425,Q5JPD9,Q75N11,Q75N12,Q96JG6,Q9NXR2,AAI60012,ADQ32145,BAI52922 Hs.222282 FLJ20097|FLJ23581|KIAA1861|MGC176659 coiled-coil domain-containing protein 132 protein-coding 1605621 CCDC134 coiled-coil domain containing 134 18087676,16713569,15489334,15461802,14702039,12477932,10591208,21123754 79879 NM_024821,AL021453,CH471095,AK026002,AK299311,BC017693,BX473493,CA420664,CR456484 NP_079097,CAI22916,EAW60468,BAB15315,BAG61322,AAH17693,CAG30370,Q9H6E4 Hs.474991 FLJ22349|MGC21013|dJ821D11.3 coiled-coil domain-containing protein 134 protein-coding 1604275 CCDC135 coiled-coil domain containing 135 11256614,16344560,14702039,12477932,11230166 84229 NM_032269,AC018552,CH471092,AK093035,AK093822,AK292558,AL136907,BC030661,BC036667,DB095284 NP_115645,EAW82947,EAW82948,EAW82949,BAC04026,BAF85247,CAB66841,AAH36667,Q8IY82 Hs.513635 C16orf50|DKFZp434I099 OTTHUMP00000164678|coiled-coil domain-containing protein 135 protein-coding 1604321 CCDC136 coiled-coil domain containing 136 15231747,16713569,15112360,14702039,12690205,12477932,11347906,20877624 64753 NM_022742,AC024952,AC025594,CH236950,CH471070,AB058696,AK023500,AK124447,AL133027,BC070114,BC150331,BC152408,CR595997,BX952188,AI611323,DR003042,NM_001201372 NP_073579,EAL24111,EAW83681,EAW83682,EAW83683,EAW83684,EAW83685,EAW83686,EAW83687,EAW83688,BAB47422,BAB14590,BAC85854,CAB61359,AAI50332,AAI52409,Q96JN2,NP_001188301 Hs.521178 DKFZp434G156|MGC129657|MGC176632|NAG6 OTTHUMP00000212775|coiled-coil domain-containing protein 136|nasopharyngeal carcinoma-associated gene 6 protein protein-coding 1625086 CCDC137 coiled-coil domain containing 137 12477932,16169070,17207965 339230 NM_199287,AC139530,CH471099,BC009369,BC052272,BM548065,CR596466,CR606833 NP_954981,EAW89669,AAH09369,Q6PK04,ADQ32182 Hs.405942 MGC16597 coiled-coil domain-containing protein 137 protein-coding 1626254 CCDC137P coiled-coil domain containing 137 pseudogene 642802 NG_009746,AC105265 pseudo 1603550 CCDC138 coiled-coil domain containing 138 12477932,14702039 165055 NM_144978,AC010095,AC073415,CH471182,AK057307,AK125199,BC015847,BC038421,BC050579 NP_659415,AAY14985,AAX88855,EAW53870,EAW53871,EAW53872,EAW53873,BAB71420,BAC86081,AAH15847,AAH50579,Q96M89 Hs.362702 FLJ32745 coiled-coil domain-containing protein 138 protein-coding 1348740 CCDC14 coiled-coil domain containing 14 737633 20936779,16713569,16344560,16189514,15146197,14702039,12477932,15342556,19615732 737633 64770 AC117381,CH471052,AA743688,AF086562,AI435151,AK022954,AK027607,AK123060,AK294979,AK295091,NM_022757,AK307847,AL122079,AL833312,BC020246,BC040285,BC042613,BG621278,BP213762,BP382977,BX537652,CN424790,CR619506,DA031063,DB037501,DB306263,DB471090 NP_073594,EAW79429,EAW79430,EAW79431,EAW79432,EAW79433,EAW79434,BAB14329,BAB55229,BAH11939,BAH11968,CAB59254,CAD91162,AAH20246,AAH42613,CAD97804,Q49A88,AAH40285 Hs.645028 DKFZp434L1050|FLJ12892|FLJ41065 OTTHUMP00000202862|OTTHUMP00000202863|OTTHUMP00000215968|OTTHUMP00000215969|coiled-coil domain-containing protein 14 protein-coding 1602834 CCDC140 coiled-coil domain containing 140 14702039,12477932 151278 NG_021186,NM_153038,AC010980,CH471063,AK057009,BC109388 NP_694583,AAY14901,EAW70798,BAB71341,AAI09389,Q96MF4 Hs.350729 FLJ32447|MGC133159 OTTHUMP00000203835|coiled-coil domain-containing protein 140 protein-coding 1606113 CCDC141 coiled-coil domain containing 141 12812986,14702039,12477932,19536175,20956536 285025 AC092640,NM_173648,AC023270,AC093792,CH471058,AK096821,AK129847,BC108697,BC115378,BX649042,AL832777,BC087856 NP_775919,AAX88845,EAX11011,EAX11012,BAC04869,BAC85242,AAI08698,AAI15379,Q2VPJ5,Q6ZP82 Hs.324341 CAMDI|DKFZp686G197|FLJ26337|FLJ39502|MGC134803 coiled-coil domain-containing protein 141|coiled-coil protein associated with myosin II and DISC1 protein-coding 1606203 CCDC142 coiled-coil domain containing 142 16303743,14702039,12477932 84865 NM_032779,AC005041,CH471053,CS051387,AK027303,AK075543,BC117269,BC143398,BC143399 NP_116168,EAW99650,CAI72188,BAC11686,AAI17270,AAI43399,Q17RM4,ADR83249 Hs.430199 FLJ14397 OTTHUMP00000202625|coiled-coil domain-containing protein 142 protein-coding 1626599 CCDC144A coiled-coil domain containing 144A 12477932,11997339,9628581 9720 NM_014695,AC098850,AB011137,AK125971,BC034617,BC133019,BC144224,BC144225 NP_055510,BAA25491,BAC86369,AAI33020,AAI44225,AAI44226,A2RUR9 Hs.721149 FLJ43983|KIAA0565|MGC164650 OTTHUMP00000065240|coiled-coil domain-containing protein 144A protein-coding 1605248 CCDC144B coiled-coil domain containing 144B 14702039,12477932,11997339,16344560 284047 NM_182568,AC026271,AC107983,AK093811,BC062767,BC101585,BC104815,BC143561,BX647826,EF553518,DB113689,NR_036647 NP_872374,AAH62767,AAI01586,AAI04816,AAI43562,ABQ66264,Q3MJ40 Hs.721149,Hs.649499 FLJ36492|MGC126634 coiled-coil domain-containing protein 144B pseudo 1626596 CCDC144C coiled-coil domain containing 144C 16344560,12477932,11997339 348254 NR_023380,AC008088,AC015818,AL162090,AL162091,BC036241,DA321951,DV080283,DV080284,AK295707 BAG58553 Hs.462475 KIAA0565 pseudo 1603856 CCDC144NL coiled-coil domain containing 144 family, N-terminal like 12477932 339184 NM_001004306,AC090774,BC068597 NP_001004306,AAH68597,Q6NUI1 Hs.674830 MGC87631 putative coiled-coil domain-containing protein 144 N-terminal-like protein-coding 1605975 CCDC146 coiled-coil domain containing 146 20935630,16344560,14702039,12477932,10819331,20379614 57639 NM_020879,AC007000,AC073635,AC098851,CH471091,AB040938,AF461817,AK056542,AK292491,BC029458,BC036053,BX649000,DB099681,HM370402 NP_065930,EAW77041,EAW77042,EAW77043,EAW77044,BAA96029,AAP97709,BAB71211,BAF85180,AAH29458,AAH36053,Q7Z4Q3,Q8IYE0,Q8N2Z6,Q96MS1 Hs.113940 KIAA1505 coiled-coil domain-containing protein 146 protein-coding 1317458 CCDC147 coiled-coil domain containing 147 15489334,15164054,14702039,12477932 159686 NM_001008723,AL162742,AL355378,CH471066,AK093227,AK296463,BC036225,BC109126,BX641120 NP_001008723,CAC16041,CAI12110,CAI15667,EAW49593,EAW49594,EAW49595,BAC04102,BAG59109,AAH36225,AAI09127,Q5T655,Q9H4Y4 Hs.253576 C10orf80|FLJ35908|MGC126475|RP11-554P13.1|bA127L20.4|bA127L20.5|bA554P13.1 bA127L20.4 (novel protein)|bA127L20.5 (novel protein)|coiled-coil domain-containing protein 147 protein-coding 1604533 CCDC148 coiled-coil domain containing 148 19401682,14702039,12477932,16344560,20379614 130940 NM_138803,AC008070,AC019044,AC069146,CH471058,AF458588,AK058105,AK123220,AK308783,AK309246,AK311042,BC015395,BC031994,BC105928,BC107596,BC107597,DA230063,NM_001171637 NP_620158,AAY14928,AAX88983,AAX88933,EAX11434,EAX11435,AAM49716,BAB71668,AAH15395,AAI05929,AAI07597,AAI07598,Q8NFR7,NP_001165108 Hs.668597 MGC125588|MGC125590 OTTHUMP00000204759|coiled-coil domain-containing protein 148 protein-coding 1606995 CCDC149 coiled-coil domain containing 149 17457313,16344560,12477932,14702039,18482256,20379614,8889548 91050 NM_173463,AC006390,AC113614,AC116422,CH471069,AK125353,AK296454,AK302905,AL834257,BC057761,BC067735,CR610515,DA950851,DC422585,DR423861,NM_001130726,AF086111,AK023472,CB243678,DB244172 Q6ZUS6,NP_001124198,NP_775734,EAW92824,EAW92825,EAW92826,BAC86142,BAG59102,BAG64075,CAD38932,AAH57761,AAH67735 Hs.106432 DKFZp761B107|FLJ13410 OTTHUMP00000217987|coiled-coil domain-containing protein 149 protein-coding 1605034 CCDC15 coiled-coil domain containing 15 14702039,12477932,20379614 80071 NM_025004,AP003501,CH471065,AK023277,AW339835,BC018540,BU569785,DB516555 NP_079280,EAW67617,EAW67618,BAB14504,AAH18540,Q0P6D6 Hs.287555 FLJ13215 coiled-coil domain-containing protein 15 protein-coding 1606406 CCDC150 coiled-coil domain containing 150 12477932,14702039 284992 NM_001080539,AC068544,CH471063,AK001064,AK096130,AK096979,AK125768,AK299214,AK301665,AK302685,AK303236,AK309349,AL834537,BC062449,BC062658,HC006922 NP_001074008,AAY14905,EAW70131,BAC04706,BAC04920,BAG61253,BAG63139,BAG63915,BAG64322,CAD39193,AAH62449,AAH62658,Q8N8C6,Q8NCX0,CBH19266 Hs.132519 DKFZp434P055|FLJ10202|FLJ38811|FLJ39660|MGC72171 coiled-coil domain-containing protein 150 protein-coding 1603185 CCDC151 coiled-coil domain containing 151 16344560,14702039,12477932 115948 NM_145045,AC024575,CH471106,AK056363,AK294355,AK302113,AK308072,BC014252,BC036041,BC050355,BC141828,BC142637,BC144421,BI548500,DB040667 NP_659482,EAW84213,EAW84214,BAG51689,BAG57620,BAG63492,AAH14252,AAI41829,AAI42638,AAI44422,A5D8V7 Hs.124010 FLJ31801|MGC20983 coiled-coil domain-containing protein 151|hypothetical protein mgc20983 protein-coding 2298815 CCDC152 coiled-coil domain containing 152 12477932 100129792 NM_001134848,AC008945,AC113368,CH471119,AK127368,AK303469,BC015985,BC039102,DB450032,DB515085 NP_001128320,EAW56024,EAW56025,BAG54496,BAG64509,AAH39102,Q4G0S7 Hs.726328 coiled-coil domain-containing protein 152 protein-coding 1604184 CCDC153 coiled-coil domain containing 153 12477932 283152 NM_001145018,AP002956,CH471065,AA782908,AA909102,BC043548,BC101443,BC101444,BC101986 NP_001138490,EAW67475,AAI01444,AAI01445,AAI01987,Q494R4 Hs.114777 MGC125447|MGC125448 coiled-coil domain-containing protein 153 protein-coding 2299193 CCDC154 coiled-coil domain containing 154 12477932 645811 NM_001143980,AL031600,AL032819,AL137252,BC061641 NP_001137452,A6NI56 Hs.355232 OTTHUMP00000205075|coiled-coil domain-containing protein 154 protein-coding 1602065 CCDC155 coiled-coil domain containing 155 12477932,11441184,16189514,14702039,16344560 147872 NM_144688,AC010619,AC010643,CH471177,AK057220,AK097696,BC029811,DB024870,DB517121 NP_653289,EAW52476,EAW52477,EAW52478,BAB71384,AAH29811,Q6ZRK4,Q8N6L0 Hs.727765 DKFZp434A2223|FLJ32658 coiled-coil domain-containing protein 155 protein-coding 1604878 CCDC157 coiled-coil domain containing 157 16344560,12477932 550631 NM_001017437,AC004997,BC018040,BC092419,BC119799,BC127255,CR936833,DA647196,DB636414 NP_001017437,AAH92419,AAI19800,AAI27256,Q569K6 Hs.505597 OTTHUMP00000198929|coiled-coil domain-containing protein 157 protein-coding 1602411 CCDC158 coiled-coil domain containing 158 16189514,12477932,11752456,20383146 339965 NM_001042784,AC034139,AC096743,CH471057,AK098600,AK098636,AL832445,AV658624,BC035224,BC086869 NP_001036249,EAX05788,EAX05789,EAX05790,EAX05791,EAX05792,BAC05347,BAC05359,AAH86869,Q5M9N0,AAI56682 Hs.529680 FLJ25770|MGC35086 coiled-coil domain-containing protein 158 protein-coding 3566767 CCDC159 coiled-coil domain containing 159 11181995,12477932,15057824,15489334,8889548 126075 AC024575,AK127284,AK293611,AK301653,AK303641,AK316339,BC038439,CA848583,CB241007,CH471106,DC416232,NM_001080503 BAG57074,BAG63130,BAG64645,BAH14710,EAW84198,EAW84199,NP_001073972,P0C7I6 Hs.631636 FLJ45351|FLJ79238 coiled-coil domain-containing protein 159|coiled-coil domain-containing-like protein-coding 3379453 CCDC160 coiled-coil domain containing 160 12477932,15772651 347475 AC004409,BC017958,CH471107,NM_001101357 A6NGH7,EAX11768,NP_001094827 Hs.679431 UPF0625 coiled-coil domain-containing protein ENSP00000359845|coiled-coil domain-containing protein 160 protein-coding 3441755 CCDC163P coiled-coil domain containing 163, pseudogene 12477932,14702039,18672041 126661 AK054714,AK300867,AL451136,BC036618,BC047421,BC101254,BC101255,BC101256,BC101257,BC113060,BC113061,CH471059,CR606750,NR_033296,NR_033297,NR_033298 BAG62515,EAX06985 Hs.461300 C1orf231 pseudo 1603565 CCDC17 coiled-coil domain containing 17 14702039,12477932,16169070,8889548 149483 NM_001114938,AL355480,CH471059,AK057646,AK298104,AK303939,AK310879,BC029888,BC065201,BC110988,BC128177,BC128178,DC414623,BU677500,DC359257,NM_001190182 NP_001108410,CAI22466,EAX06961,EAX06962,EAX06963,BAB71539,BAG60389,BAG64867,AAH29888,AAI28178,AAI28179,Q96LX7,NP_001177111 Hs.18912 FLJ17921|FLJ33084|RP4-697E16.4 OTTHUMP00000009506|coiled-coil domain-containing protein 17 protein-coding 1601798 CCDC18 coiled-coil domain containing 18 12477932,12601173 343099 NM_206886,AC126124,AL139421,CH471097,AA278251,AI436590,AK126045,AW444474,AY211914,AY211918,BC056667,BX538286,CA428763 NP_996769,CAI22508,CAI22509,CAI22510,CAI22511,EAW73078,EAW73079,EAW73080,BAC86410,AAO65167,AAO65171,AAH56667,CAD98081,Q5T9S2,Q5T9S3,Q5T9S4,Q5T9S5,Q6PH87,Q7Z659,Q86WF1,Q86WF4,AAI52763,AAI56746 Hs.310637 NY-SAR-41|RP4-717I23.1|dJ717I23.1 OTTHUMP00000012325|OTTHUMP00000012326|coiled-coil domain-containing protein 18|sarcoma antigen NY-SAR-24|sarcoma antigen NY-SAR-41 protein-coding 1604370 CCDC19 coiled-coil domain containing 19 12477932,10524255,9373149,8125298 25790 NM_012337,AL590560,CH471121,AF094758,AK225566,AK225582,AK292249,AK308262,BC027874,BC064386,BC089391,BC109055 NP_036469,CAH71107,EAW52765,EAW52766,AAD55817,BAF84938,AAH89391,Q05BA3,Q9UL16 Hs.647705 NESG1|RP11-190A12.6 coiled-coil domain-containing protein 19, mitochondrial|nasopharyngeal epithelium specific protein 1 (NESG1)|nasopharyngeal epithelium-specific protein 1 protein-coding 1604312 CCDC21 coiled-coil domain containing 21 16710414,15489334,14702039,12477932 64793 NM_022778,AL355877,AL451139,CH471059,AK024038,AK025653,AK299312,AL133609,AL137420,BC019902,BC064528 NP_073615,CAH71540,CAH71541,CAI15848,CAI15849,EAX07833,EAX07834,EAX07835,EAX07836,BAB14794,BAB15203,BAG61323,CAB63740,CAB70730,AAH19902,AAH64528,Q6P2H3,Q9NTB2 Hs.63795 DKFZp434L0117|DKFZp434P232|FLJ13976|FLJ22000 OTTHUMP00000003456|coiled-coil domain-containing protein 21 protein-coding 1352329 CCDC22 coiled-coil domain containing 22 737633 19204726,18029348,15489334,12522145,12477932,8889548,20237496,20398921 737633 28952 NM_014008,AF235097,CH471224,AJ005890,AK291976,AK296911,AK298264,AK316375,BC000972,BC011675,BG912845,BQ184335,CR598915,CR610841,CR611380,BM146102,NG_021311 NP_054727,EAW50674,EAW50675,EAW50676,CAA06747,BAF84665,BAG59466,BAG60528,BAH14746,AAH00972,AAH11675,O60826,ABM85096,ABW03374 Hs.26333,Hs.247700 CXorf37|JM1 chromosome x open reading frame 37|coiled-coil domain-containing protein 22 protein-coding 1605525 CCDC23 coiled-coil domain containing 23 8889548,12477932,16710414,15489334,20736312 374969 NM_199342,AC098484,AL512353,CH471059,AK291356,BC029427,BM675639,BQ712089 NP_955374,CAH72714,EAX07134,EAX07135,BAF84045,AAH29427,Q8N300 Hs.113919 coiled-coil domain-containing protein 23 protein-coding 1603566 CCDC24 coiled-coil domain containing 24 16710414,15489334,14702039,12477932,17207965 149473 NM_152499,AL139220,CH471059,AK092569,AY487420,BC033868,BC047313,BX641142,CR619815 NP_689712,CAI19427,EAX07058,EAX07059,EAX07060,EAX07061,AAR39430,AAH33868,AAH47313,CAE46063,Q05BG8,Q6MZH0,Q8N4L8,ADQ31638 Hs.632394 MGC45441|RP5-1198O20.2 coiled-coil domain-containing protein 24 protein-coding 1605370 CCDC25 coiled-coil domain containing 25 20379614,17081983,16344560,15489334,15345747,14702039,12477932 55246 AK294848,AK316015,NM_018246,AC013643,AC104997,CH471080,AK001715,AK027900,AK292875,AK311437,BC006239,BC032588,BC049197,BC054039,BC065295,BC110391,CR606061,CR617453,DA218015 BAH11904,BAH14386,NP_060716,EAW63539,EAW63540,EAW63541,EAW63542,EAW63543,BAA91857,BAB55442,BAF85564,AAH06239,AAH32588,AAH49197,AAH54039,AAH65295,AAI10392,Q0P663,Q0VGD4,Q6PK69,Q7Z5U5,Q86WR0 Hs.445512 FLJ10853 coiled-coil domain-containing protein 25 protein-coding 1602432 CCDC27 coiled-coil domain containing 27 18597038,16710414,16344560,15489334,14702039,12477932,20379614 148870 NM_152492,AL136528,AL365330,CH471130,AK057387,BC112108,BC112112,DB048639 NP_689705,CAI19122,CAI42526,EAW71476,EAW71477,BAB71462,AAI12109,AAI12113,Q2M243 Hs.348700 FLJ32825|MGC138313|MGC138317|RP1-286D6.1 coiled-coil domain-containing protein 27 protein-coding 1351078 CCDC28A coiled-coil domain containing 28A This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. [provided by RefSeq] 16028218,15489334,14574404,12477932 25901 AL121834,NM_015439,CH471051,AJ420568,AK300672,AL050197,AY167571,BC000758,BC004464,BC013019,BC080566,BC108717,CR598704,CR626300,CR626831,CR612663 NP_056254,CAI42866,EAW47910,EAW47911,BAG62357,CAB43315,AAN87344,AAH04464,AAH13019,AAH80566,AAI08718,Q7Z6N9,Q8IWP9 Hs.412019 C6orf80|CCRL1AP|DKFZp586D0623|MGC131913 chemokine C-C motif receptor-like 1 adjacent|coiled-coil domain-containing protein 28A protein-coding 1603961 CCDC28B coiled-coil domain containing 28B The product of this gene localizes to centrosomes and basal bodies. It interacts and colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq] 17207965,19402160,16710414,16344560,16327777,15489334,14702039,12477932,9373149,8889548,8125298 79140 NM_024296,NG_012178,AL049795,CH471059,AK092702,AK225113,AK291904,BC002462,BC022848,BM981930,DA899719 ADQ32629,NP_077272,CAB75616,CAI22057,EAX07563,EAX07564,BAF84593,Q9BUN5,AAH22848 Hs.534482 MGC1203|MGC16441|RP4-622L5.5 coiled-coil domain-containing protein 28B protein-coding 1625836 CCDC29 coiled-coil domain containing 29 728788 NG_016332,CR769776 CAI95378,CAI95379,CAI95380,CAI95382 pseudo 1351886 CCDC3 coiled-coil domain containing 3 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 83643 NM_031455,AL353586,AL355355,AL596124,CH471072,AF190154,AK024578,AK095792,AK123393,AK124195,AL136562,BC051334,CR618046,DN996248 NP_113643,CAH72783,CAH72784,CAI16545,CAI16546,EAW86311,AAQ13698,BAG53129,CAB66497,AAH51334,Q5VYV9,Q7Z4C2,Q9BQI4,CAL38166 Hs.498720 DKFZp761F241|FLJ20925|RP11-347I22.1 coiled-coil domain-containing protein 3|fat/vessel-derived secretory protein|favine protein-coding 1605139 CCDC30 coiled-coil domain containing 30 16710767 728621 NM_001080850,AC098484,AL138788,AL445669,AK024625,AK302075,AL832217,AY639646,BX640642,DC397297 Q9H7F6,NP_001074319,CAI22439,CAH70752,CAH70753,BAB14936,BAG63464,AAX19141,CAE45789,Q5VVM6,Q6N081 Hs.473495 FLJ20972|PFD6L|PFDN6L OTTHUMP00000008584|OTTHUMP00000222509|coiled-coil domain-containing protein 30|prefoldin 6-like|prefoldin subunit 6-like protein protein-coding 1602211 CCDC33 coiled-coil domain containing 33 16189514,19240061,16713569,16344560,15342556,14702039,12477932,20043878,20068295,20379614 80125 NM_025055,NM_182791,AC023300,AC090826,CH471136,AK026821,AK057417,AK290709,AK310852,BC009178,BC025689,BC031684,BP292996,DB070410,DB078117 NP_079331,NP_877592,EAW99343,EAW99344,EAW99345,EAW99346,EAW99347,BAB15564,BAG51911,BAF83398,AAH31684,Q8N5R6 Hs.383206,Hs.621342 CT61|FLJ23168|FLJ32855|MGC34145 cancer/testis antigen 61|coiled-coil domain-containing protein 33 protein-coding 1606993 CCDC34 coiled-coil domain containing 34 10508479,11173847,17207965,15334068,12477932 91057 NM_030771,NM_080654,AC090597,CH471064,AF155108,AF301222,AF382034,AK308494,AK313358,AL555720,AY598334,BC008496,BC029421,BU595712,CR597641,CR600953 ADQ31630,NP_110398,NP_542385,EAW68287,EAW68288,EAW68289,AAD42874,AAG39935,AAO13807,BAG36159,AAT06745,AAH08496,Q96HJ3 Hs.143733 L15|NY-REN-41|RAMA3 NY-REN-41 antigen|coiled-coil domain-containing protein 34|renal carcinoma antigen NY-REN-41 protein-coding 1605539 CCDC36 coiled-coil domain containing 36 12477932 339834 NM_178173,NM_001135197,AC121247,AC135506,CH471055,AA858032,AK058049,AK303033,BC015057,BC036202 NP_835467,NP_001128669,EAW64965,EAW64966,BAB71640,BAG64158,AAH36202,Q8IYA8 Hs.631931 CT74|FLJ25320 OTTHUMP00000208933|cancer/testis antigen 74|coiled-coil domain-containing protein 36 protein-coding 1602811 CCDC37 coiled-coil domain containing 37 12477932,15489334,14702039 348807 NM_182628,AC063919,AC073439,AK097402,BC101366,BC101367,BC101368,BC101369,CH471052 NP_872434,BAC05035,AAI01367,AAI01368,AAI01369,AAI01370,Q494V2,EAW79363,EAW79364 Hs.591305 FLJ40083|MGC120558 OTTHUMP00000222567|coiled-coil domain-containing protein 37 protein-coding 1603366 CCDC38 coiled-coil domain containing 38 15489334,14702039,12477932,20379614 120935 NM_182496,AC090001,AC126174,CH471054,AK097408,BC047659,BC095479 NP_872302,EAW97550,EAW97551,BAC05038,AAH95479,Q502W7 Hs.210377 FLJ40089 coiled-coil domain-containing protein 38 protein-coding 1605540 CCDC39 coiled-coil domain containing 39 21131972,20379614,11256614,12477932,11329013 339829 NM_181426,AC068298,AK304270,AL122120,BC047103,BG205877,DC399927 NP_852091,BAG65133,CAB59277,Q9UFE4 Hs.712820 DKFZp434A128 OTTHUMP00000212527|coiled-coil domain-containing protein 39 protein-coding 1605992 CCDC40 coiled-coil domain containing 40 16344560,14702039,12477932,10997877,21131974 55036 NM_017950,AC087741,AC116025,CH471099,AB046860,AI393590,AK000760,AK056583,AK130684,AL713758,BC035251,BC058288,DB236682 NP_060420,EAW89578,EAW89579,BAB13466,BAA91365,AAH35251,AAH58288,Q4G0X9 Hs.202542 FLJ20753|FLJ32021|KIAA1640 coiled-coil domain-containing protein 40 protein-coding 1606008 CCDC41 coiled-coil domain containing 41 16344560,15489334,14702039,12477932,10508479,8889548 51134 NM_001042399,NM_016122,AC068779,AC073655,CH471054,AF155115,AK056316,AL705616,BC011009,BC032943,BC053614,BC107746,BC125086,BC125087,BU608784,DA440413,DB449066 NP_001035858,NP_057206,EAW97501,EAW97502,EAW97503,EAW97504,EAW97505,AAD42881,AAI07747,AAI25087,AAI25088,Q3B787,Q9Y592 Hs.279209 MGC149726|NY-REN-58 NY-REN-58 antigen|coiled-coil domain-containing protein 41|renal carcinoma antigen NY-REN-58 protein-coding 1601721 CCDC42 coiled-coil domain containing 42 16189514,15489335,15489334,14702039,12477932 146849 NM_144681,NM_001158261,AC009451,AC011061,CH471108,AI204372,AK057296,BC029224,CV030241 NP_653282,NP_001151733,EAW90043,EAW90044,EAW90045,BAB71414,AAH29224,Q96M95 Hs.121438 CCDC42A|FLJ32734 coiled-coil domain-containing protein 42A protein-coding 2311614 CCDC42B coiled-coil domain containing 42B 16541075 387885 NM_001144872,AC089999 NP_001138344,A6NFT4 Hs.486856 coiled-coil domain-containing protein 42B protein-coding 1606980 CCDC43 coiled-coil domain containing 43 17207965,14702039,12477932 124808 NM_001099225,NM_144609,AC091152,CH471178,AI073854,AK056357,AK098464,AL833590,BC023298,BC047776,BG706097,BX648868 ADQ33069,Q86WV7,Q96MW1,NP_001092695,NP_653210,EAW51588,EAW51589,BAB71162,AAH47776 Hs.579115 FLJ31795 coiled-coil domain-containing protein 43 protein-coding 1601939 CCDC45 coiled-coil domain containing 45 15231747,15489334,14702039,12477932,20936779,20379614 90799 NM_138363,AC009994,CH471109,AK057326,AK290587,AK297409,AK316257,AL832822,BC009518,BC029461,AC138744 NP_612372,EAW94196,EAW94197,EAW94198,EAW94199,EAW94200,BAB71428,BAF83276,BAG59844,BAH14628,CAI46165,AAH09518,Q5JPF7,Q96GE4 Hs.569713 DKFZp667E1824 coiled-coil domain-containing protein 45 protein-coding 1604510 CCDC46 coiled-coil domain containing 46 This gene encodes a protein with filament, myosin tail and ATPase domains. Orthologs of this gene exist in mouse, rat and chimp. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 20732626,19851299,20378664,20379614,15489334,14702039,12477932,11329013 201134 NM_145036,NM_001037325,AC004805,AC006120,AC006440,AC007716,AC087302,AC105028,CH471099,AA723963,AF458591,AK096929,AK097612,AK098070,AK299075,BC029524,BC037991,BC131805,BG203878,BG531260,BX097629,CX872964,DC327965,NM_001199165 NP_659473,NP_001032402,EAW89007,EAW89008,EAW89009,EAW89010,AAM49719,BAG53575,BAG61141,AAH29524,AAH37991,AAI31806,Q8N8E3,NP_001186094 Hs.408676 FLJ39610|MGC33887 coiled-coil domain-containing protein 46 protein-coding 1603982 CCDC47 coiled-coil domain containing 47 20562859,17353931,16344560,16303743,15489334,14702039,12477932,9373149,8125298,16169070 57003 NM_020198,AC015651,CH471109,CS051185,AF113221,AF226054,AK027786,AK027844,AK075387,AK225813,AK314328,BC001300,BC008905,BC013600,DB222124 NP_064583,EAW94279,EAW94280,EAW94281,EAW94282,CAI72088,AAG39292,AAF86954,BAB55367,BAB55407,BAC11587,BAG36975,AAH08905,AAH13600,Q96A33,ABM87572 Hs.202011 GK001|MSTP041 coiled-coil domain-containing protein 47 protein-coding 1602687 CCDC48 coiled-coil domain containing 48 16641997,15489334,14702039,12477932 79825 NM_024768,AC108673,AC112484,CH471052,AK022115,AK022119,BC093800,BC112195,BX649124 NP_079044,EAW79286,BAB13964,AAH93800,AAI12196,Q9HA90 Hs.134807 C3orf73|DKFZp686B0148|FLJ12053|FLJ12057|MGC138400 EF-hand domain-containing protein ENSP00000381169|coiled-coil domain-containing protein 48 protein-coding 1603211 CCDC49 coiled-coil domain containing 49 16189514,12477932,9373149,19941820,8125298 54883 NM_017748,AC006449,CH471152,AK000298,AK225373,AK296115,AK302983,AK316077,BC003085,BC008833,CR749362 NP_060218,EAW60537,BAA91065,BAG58864,BAG64123,BAH14448,AAH03085,AAH08833,CAH18215,Q9NXE8 Hs.406223 CCDC49|DKFZp779M0968|FLJ20291 coiled-coil domain containing 49|coiled-coil domain-containing protein 49|pre-mRNA-splicing factor CWC25 homolog|spliceosome-associated protein homolog CWC25 protein-coding 1606954 CCDC50 coiled-coil domain containing 50 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 17207965,18029035,17503326,17081983,16803894,15951569,15489334,15314609,14702039,14527723,12483295,12477932,16169070,18029348,19059208,19641524 152137 NM_178335,NM_174908,AC068645,AC073365,CH471052,AJ416916,AJ557013,AK055652,AK092045,AK093660,BC065004,CR592179,CR601015,CR603155,CR610519,CR614299,CR618301,CR618316,AL512753,NG_008994 ADQ32531,NP_848018,NP_777568,EAW78089,EAW78090,CAC95196,CAD89526,AAH65004,Q8IVM0 Hs.478682 C3orf6|DFNA44|YMER coiled-coil domain-containing protein 50|protein Ymer protein-coding 1602866 CCDC51 coiled-coil domain containing 51 15342556,15146197,14702039,12477932,17207965,20877624 79714 BC011993,BP307614,CN259750,CR595423,CR595966,CR599349,CR600383,NM_024661,AC104448,CH471055,AK022498,BC004341 AAH11993,Q96ER9,NP_078937,EAW64867,EAW64868,EAW64869,EAW64870,EAW64871,EAW64872,BAB14060,ADQ32699 Hs.187657 FLJ12436 OTTHUMP00000210092|OTTHUMP00000210093|coiled-coil domain-containing protein 51 protein-coding 1606953 CCDC52 coiled-coil domain containing 52 20736305,17081983,15489334,15342556,15302935,12477932,9110174,8619474,8012384 152185 NM_144718,AC112128,CH471052,Z61420,AK057966,AK126897,AK129575,AK296160,AL832148,AL832327,AY099107,BC019232,BC036951,BC038595,BP278430,U79249 NP_653319,EAW79634,EAW79635,EAW79636,EAW79637,BAG54389,BAG58899,CAD91167,AAM34495,AAH19232,AAH36951,Q8N0Z3 Hs.477144 CCDC52|FLJ26064|FLJ44949|SPICE coiled-coil domain containing 52|coiled-coil domain-containing protein 52|spindle and centriole protein|spindle and centriole-associated protein 1 protein-coding 1606297 CCDC53 coiled-coil domain containing 53 16189514,16169070,15489334,12477932,10931946,10810093,9373149,8125298,20881960,17207965,19060904,19922875 51019 CH471054,AF151874,AF155655,AI739611,AK223339,AK314970,BC010889,CR457171,CR609797,CR621235,CR623956,DB452335,NM_016053,AC079907,FJ695207 EAW97687,AAD34111,AAF67012,BAD97059,BAG37471,AAH10889,CAG33452,Q9Y3C0,ADQ33161,NP_057137 Hs.405692 CGI-116 WASH complex subunit CCDC53|coiled-coil domain-containing protein 53 protein-coding 1606758 CCDC54 coiled-coil domain containing 54 16138340,12477932 84692 NM_032600,AC063944,CH471052,AF367469,AK058091,BC030780,HC007188 NP_115989,EAW79746,AAK53405,BAB71661,AAH30780,Q8NEL0,ABM81755,ABM81756,ABM84911,CBH19399 Hs.164799 FLJ25362|NYD-SP17 coiled-coil domain-containing protein 54|testes development-related NYD-SP17|testis development protein NYD-SP17 protein-coding 1604770 CCDC55 coiled-coil domain containing 55 11256614,19047128,17081983,16964243,16381901,15489336,15489334,14702039,12477932,11230166,11076863 84081 NM_032141,AC104984,CH471159,AF161358,AK094552,AK297102,AK313963,AL136806,BC016313,BC040118,BC046116,BC062425,BC105044,BC105046,BC143417,BC143539,CB957325,CR533555 NP_115517,EAW51220,EAW51221,EAW51222,AAF28918,BAH12497,BAG36679,CAB66740,AAH16313,AAH40118,AAI05045,AAI05047,AAI43540,CAG38586,Q05DD5,Q9H0G5,Q9P0E1,CAL37583,CAL37597 Hs.462663 DKFZp434K1421|FLJ37233|HSPC095 coiled-coil domain-containing protein 55 protein-coding 3129369 CCDC55P1 coiled-coil domain containing 55 pseudogene 1 100420557 AC138392,NG_022784 pseudo 1606307 CCDC56 coiled-coil domain containing 56 11042152,9373149,15489334,12477932 28958 NM_001040431,AC016889,CH471152,AF070665,AK225611,AK290863,AK295023,BC002698,CR593427,CR594541 NP_001035521,EAW60884,EAW60885,AAD20971,BAF83552,BAH11952,AAH02698,Q9Y2R0,ABM84374,ABW03549 Hs.16059 FLJ50764|HSPC009 coiled-coil domain-containing protein 56 protein-coding 1605253 CCDC57 coiled-coil domain containing 57 19913121,20628086,20379614,15851553,14702039,12477932,10737800,9110174,8619474 284001 NM_198082,AC129510,AC132872,AC135056,AF007146,AK074059,AK074334,AK125941,AL137530,BC040264,BC110997,BE146089,CK431023 NP_932348,BAB84885,BAB85054,CAB70794,AAH40264,AAI10998,Q2TAC2,Q8TE98,Q9NT49,ACE87450,ACE86764 Hs.631724 FLJ00130|FLJ23754|FLJ43953|MGC102869 OTTHUMP00000179168|coiled-coil domain-containing protein 57 protein-coding 1604240 CCDC58 coiled-coil domain containing 58 15489334,12477932,20877624,20558539,20705733 131076 NM_001017928,AC083798,CH471052,BC054051,BC062725,BC109378 NP_001017928,EAW79487,EAW79488,AAH62725,AAI09379,Q4VC31 Hs.220594 FLJ33273 OTTHUMP00000215574|OTTHUMP00000215575|coiled-coil domain-containing protein 58 protein-coding 2303339 CCDC58P1 coiled-coil domain containing 58 pseudogene 1 645859 NG_009486,AP001180 pseudo 1606017 CCDC59 coiled-coil domain containing 59 11152647,17353931,16630564,14702039,12882447,12477932,11042152,9373149,8125298,17207965,16341674,16344560 29080 NM_014167,AC083811,CH471054,AF161477,AF213377,AK001156,AK225139,AL832749,BC020647,BG538660,CR611206,BM846580,DA666239,NR_033192 NP_054886,EAW97379,EAW97380,AAF29092,AAG43569,BAA91524,AAH20647,Q9P031,ADQ32217 Hs.582627 BR22|DKFZp686K1021|FLJ10294|HSPC128|TAP26 TTF-1-associated protein 26|TTF-1-associated protein BR2|coiled-coil domain-containing protein 59|thyroid transcription factor 1-associated protein 26 protein-coding 1344180 CCDC6 coiled-coil domain containing 6 1580863 17353931,8058316,19487296,18474871,18226854,17420723,17081983,16964243,16344560,15302935,15144186,14712216,14702039,12477932,8889549,7753554,6745938,2406025,775355,18715871,1678508,2334411,2902563,3600795,8889548,16385451,18029348,19615732,19730683,20379614,20498639 8030 AC023904,AC060231,CH471083,AA112388,AK024913,AK055515,AK056848,AK292593,BC022284,BC036757,BC064391,CR607870,DA189501,DA923950,S72869,NM_005436,NG_027819,BM672399 NP_005427,EAW54196,EAW54197,BAF85282,AAH22284,AAH36757,AAH64391,AAC60637,Q05CP8,Q16204 Hs.591360 D10S170|FLJ32286|H4|PTC|TPC|TST1 coiled-coil domain-containing protein 6|papillary thyroid carcinoma-encoded protein|protein H4 protein-coding 1602176 CCDC60 coiled-coil domain containing 60 18332876,17903295,16344560,15489334,12477932,8889548 160777 NM_178499,AC002070,AC084881,CH471054,AK310830,BC040553,BM724243,DB204596 NP_848594,EAW98147,EAW98148,EAW98149,EAW98150,AAH40553,Q8IWA6 Hs.98188 MGC39827 coiled-coil domain-containing protein 60 protein-coding 2290511 CCDC61 coiled-coil domain containing 61 19913121,20628086,17081983,15057824 729440 NM_001080402,AC007785,AC011545,GQ375050 Q9Y6R9,NP_001073871,AAD38244,AAF98366,ACT79331 Hs.515479 coiled-coil domain-containing protein 61 protein-coding 1603292 CCDC62 coiled-coil domain containing 62 19165854,19126643,18563714,15489334,14702039,12477932 84660 NM_201435,NM_032573,NR_027918,AC027290,CH471054,AK097663,AK124633,AK292466,AY009105,AY254201,BC060796 NP_958843,NP_115962,EAW98344,EAW98345,BAG53505,BAC85909,BAF85155,AAG49396,AAP13075,AAH60796,Q6P9F0 Hs.592008 CT109|ERAP75|FLJ25432|FLJ40344|TSP-NY|aaa cancer/testis antigen 109|coiled-coil domain-containing protein 60|coiled-coil domain-containing protein 62|protein aaa|testis-specific protein TSP-NY protein-coding 1604733 CCDC63 coiled-coil domain containing 63 14702039,12477932 160762 NM_152591,AC002351,AC002375,CH471054,AK093162,AK302207,AK310294,BC044815,BC064580,BC073147,HC006984 NP_689804,EAW97941,EAW97942,BAC04081,BAG63565,AAH44815,AAH64580,AAH73147,Q8NA47,CBH19297 Hs.437141 FLJ35843 coiled-coil domain-containing protein 63 protein-coding 1603186 CCDC64 coiled-coil domain containing 64 19734545,20379614 92558 NM_207311,AC004812,AC004815,CH471054,AK129960,AK297888,AK301580,U88834,HI574098 NP_997194,AAC83181,EAW98159,EAW98160,EAW98161,EAW98162,BAC85259,BAG60209,BAG63072,Q6ZP65,CBX47538 Hs.369763 BICDR-1|FLJ26450|H_267D11.1 BICD-related protein 1|WUGSC:H_267D11.1|bicaudal D-related protein 1|coiled-coil domain-containing protein 64A protein-coding 1626601 CCDC64B coiled-coil domain containing 64B 12477932 146439 NM_001103175,AC108134,CH471112,AL833717,AL833749,BC015446,BC128602,BG142147,AK307181 NP_001096645,EAW85420,CAH56245,AAI28603,A1A5D9 Hs.513285 BICDR-2|MGC158069 BICD-related protein 2|bicaudal D-related protein 2|coiled-coil domain-containing protein 64B protein-coding 1604557 CCDC65 coiled-coil domain containing 65 CCDC65 is a sperm tail protein that is posttranslationally modified during sperm capacitation (Zheng et al., 2006 [PubMed 17089017]).[supplied by OMIM] 17089017,16344560,14702039,12477932,8889548 85478 NM_033124,AC073610,CH471111,AF382188,AK093051,AK098529,AK302082,AK314623,BC039317,CA314956,DB026303 NP_149115,EAW58020,EAW58021,AAK60542,BAC04035,BAC05324,BAG63469,BAG37189,AAH39317,Q8IXS2 Hs.512805 FLJ25663|FLJ35732|NYD-SP28 coiled-coil domain-containing protein 65|testis development protein NYD-SP28 protein-coding 1605241 CCDC66 coiled-coil domain containing 66 17562024,16344560,14702039,12477932,8889548,20379614 285331 NM_001141947,NR_024460,NM_001012506,AC098478,AC099781,AA887479,AK095688,AK096754,AK125303,AL832556,AL832692,AL833326,BC047509,BC132827,BG484326,BU674751,CF994722,CU456552,DA017177 NP_001012524,BAC04607,BAG54180,AAH47509,AAI32828,A2RUB6,NP_001135419 Hs.476399 DKFZp686C0433 OTTHUMP00000208583|coiled-coil domain-containing protein 66 protein-coding 1606948 CCDC67 coiled-coil domain containing 67 16189514,12477932 159989 NM_181645,AP003969,AP004242,CH471065,AK058122,AK127973,BC017929,BC031247,BC050325,DB449834 NP_857596,EAW66898,EAW66899,EAW66900,BAB71673,BAC87213,AAH17929,AAH31247,Q05D60,Q6ZRU6 Hs.436625 FLJ25393 coiled-coil domain-containing protein 67 protein-coding 1601959 CCDC68 coiled-coil domain containing 68 15489334,15142679,12477932,11149944,17207965 80323 NM_025214,NM_001143829,AC098848,CH471096,AF273051,AI823801,AK058097,AK313793,BC029508,CR592235 NP_079490,NP_001137301,EAW63014,EAW63015,AAG34911,BAG36530,AAH29508,Q9H2F9,ADQ31668,EAW63013 Hs.120790 FLJ25368|SE57-1 CTCL tumor antigen se57-1|CTCL-associated antigen se57-1|OTTHUMP00000163560|coiled-coil domain-containing protein 68|cutaneous T-cell lymphoma associated antigen|cutaneous T-cell lymphoma-associated antigen se57-1 protein-coding 1603313 CCDC69 coiled-coil domain containing 69 14702039,12477932,9373149 26112 AK023767,AK094658,AK225826,AK292841,AK298063,AL080169,AL713742,AY538626,BC013053,BC016647,BM927471,CR613734,NM_015621,AC008385,AC011342,CH471062 EAW61683,BAB14672,BAF85530,BAG60356,CAB45757,AAS45488,AAH16647,A6NI79,Q6QIX4,Q9H8E5,Q9Y4P0,NP_056436,EAW61682 Hs.655336 DKFZp434C171|FLJ13705 coiled-coil domain-containing protein 69 protein-coding 1353671 CCDC7 coiled-coil domain containing 7 737633 19277478,16189514,15489334,14702039,12477932,16385451,20379614 737633 221016 NM_001026383,AL354750,AL391839,CH471072,AK057324,AK058148,BC022020,BC042672,BI462512,BX647771,EF656618,EF656619,EF656620,NM_145023 NP_659460,NP_001021554,CAI39704,CAI39706,CAH70456,EAW85964,EAW85965,EAW85966,BAB71426,BAB71686,AAH22020,AAH42672,CAI46051,ABR88143,ABR88144,ABR88145,Q5HYG3,Q5JTR9,Q96LK5,Q96M83 Hs.585464 BioT2-A|BioT2-B|BioT2-C|DKFZp686N0559|FLJ32762|RP11-479G22.1 coiled-coil domain-containing protein 7 protein-coding 1603195 CCDC70 coiled-coil domain containing 70 11256614,15489334,15342556,15057823,14702039,12477932,11230166,9373149,8125298,17207965 83446 NM_031290,AL162377,CH471075,CS072272,AK098719,AK225745,AL136887,BC069691,BC069748,BC069770,BC069806,BP371671 ACE87537,NP_112580,CAI13430,EAX08897,CAI93410,BAC05391,CAB66821,AAH69691,AAH69748,AAH69770,AAH69806,Q6NSX1,ACE86850,ADQ32881 Hs.120573 DKFZp434K1172|FLJ25853 coiled-coil domain-containing protein 70 protein-coding 1601742 CCDC71 coiled-coil domain containing 71 17207965,16344560,15489334,14702039,12477932 64925 NM_022903,AC135506,CH471055,AK022862,AK023691,AK098658,BC035516,BC071960,CR608045,CR608073,CR610877,CR617305,DA613715 ADQ31800,NP_075054,EAW64960,BAB14278,BAB14642,AAH35516,AAH71960,Q8IV32 Hs.211472 FLJ12800|FLJ13629 2600016J21Rik|coiled-coil domain-containing protein 71 protein-coding 1605384 CCDC72 coiled-coil domain containing 72 16096800,15740594,15489334,14702039,12477932,11042152 51372 NM_015933,AC104448,CH471055,AF077202,AF161448,AK126594,AY508979,AY794023,BC001102,BC066333,BC080531 NP_057017,EAW64873,EAW64874,AAD26997,AAF29008,AAR87665,AAV40981,AAH80531,Q9Y2S6,ABM86882,ABW03833 Hs.356440 HSPC016 coiled-coil domain-containing protein 72 protein-coding 1601781 CCDC73 coiled-coil domain containing 73 18519826,12601173,12477932,20379614 493860 NM_001008391,AL035400,AL049714,AL078477,AL096793,CH471064,AA521271,AK128159,AK131470,AY211922,BC062749,BC146800 NP_001008392,EAW68216,BAC87304,BAD18615,AAO65175,AAH62749,AAI46801,Q6ZRK6,AAI67796 Hs.706808 NY-SAR-79 coiled-coil domain-containing protein 73|sarcoma antigen NY-SAR-79 protein-coding 1604765 CCDC74A coiled-coil domain containing 74A 12477932,17207965,15815621,15489334,14702039 90557 NM_138770,AC093838,CS063590,AK097664,AK309113,BC016861,BC030744,BC063387,CR608628 ADQ31761,NP_620125,AAY14809,CAI84530,BAC05137,AAH16861,AAH30744,AAH63387,Q4G142,Q8N7U0,Q96AQ1 Hs.351461 FLJ40345 coiled-coil domain-containing protein 74A protein-coding 1605902 CCDC74B coiled-coil domain containing 74B 15489334,14702039,12477932 91409 AK297246,AK302804,NM_207310,AC018804,AK057609,AL133619,BC067771 BAG59726,BAG64006,NP_997193,BAB71533,CAB63745,AAH67771,Q96LY2,Q9UF43 Hs.29383 DKFZp434E2321 OTTHUMP00000204217|coiled-coil domain-containing protein 74B protein-coding 1606673 CCDC75 coiled-coil domain containing 75 21048031,15815621,15489334,14702039,12477932,12213963,17207965 253635 NM_174931,AC007899,CH471053,AK095667,AK289504,AK294697,BC071798,BM285380,BX647651 NP_777591,AAY24316,EAX00410,EAX00411,BAC04602,BAF82193,BAH11850,Q8N954,ADQ32025 Hs.595250 FLJ38348|GPATCH11 G patch domain containing 11|OTTHUMP00000158585|coiled-coil domain-containing protein 75|g patch domain-containing protein 11 protein-coding 1604003 CCDC76 coiled-coil domain containing 76 11799066,12477932,16710414,15489334,14702039 54482 NM_019083,AL445928,CH471097,AK001149,AK002081,AK289404,AK294738,AK295828,AK298941,AL699548,BC057226,BC075811,CR745287 NP_061956,CAH72249,CAH72251,CAH72252,EAW72970,EAW72971,EAW72972,EAW72973,BAA91520,BAA92074,BAF82093,BAG57881,BAG58644,BAG61041,AAH75811,Q5VVK9,Q5VVL2,Q9NUP7 Hs.440371 FLJ10287|FLJ11219 coiled-coil domain-containing protein 76|tRNA [Gm4] methyltransferase|tRNA guanosine-2'-O-methyltransferase TRM13 homolog protein-coding 1601842 CCDC77 coiled-coil domain containing 77 16344560,15489334,14702039,12477932 84318 NM_032358,NM_001130146,NM_001130147,NM_001130148,AC005844,CH471116,AK027638,AK308216,BC006444,CR618406,CX784327,DA711064,DC331633,AK293165,AK316029 NP_115734,NP_001123618,NP_001123619,NP_001123620,EAW88967,EAW88968,EAW88969,BAB55255,AAH06444,Q9BR77,BAG56709,BAH14400 Hs.631656 MGC13183 coiled-coil domain-containing protein 77 protein-coding 1345830 CCDC78 coiled-coil domain containing 78 14702039,12477932,11157797,20237496 124093 NM_001031737,AE006464,CH471112,Z98258,AK057178,AK091831,AK127495,AK128538,AK128575,AK298111,AK303991,AY439221,BC027941,BC031561,BC042110,CR617330,DC341680 BAC87488,NP_001026907,AAK61249,EAW85734,EAW85735,EAW85736,EAW85737,EAW85738,EAW85739,EAW85740,EAW85741,EAW85742,EAW85743,EAW85744,EAW85745,CAM26479,BAC03757,BAC87006,BAG60396,BAG64908,AAR13900,AAH42110,A2IDD5,Q6ZSE7 Hs.381943 C16orf25|FLJ34512|JFP10|LA16c-444G9.2 chromosome 16 open reading frame 25|coiled-coil domain-containing protein 78 protein-coding 1605833 CCDC79 coiled-coil domain containing 79 14702039,12477932 283847 NM_001136505,AC044802,AK093213,BC126109 NP_001129977,BAC04098,AAI26110,Q8NA31 Hs.376505 FLJ35894 coiled-coil domain-containing protein 79 protein-coding 1351060 CCDC8 coiled-coil domain containing 8 737633 11256614,15489334,12477932,11230166 737633 83987 NM_032040,AC024584,CH471126,AI301367,AK297668,AL136609,BC015648,BC025243,BG717344,BX096201 NP_114429,EAW57418,BAG60030,CAB66544,AAH25243,Q9H0W5,ACE86552 Hs.97876 DKFZp564K0322 coiled-coil domain-containing protein 8 protein-coding 736330 CCDC80 coiled-coil domain containing 80 16341674,18029348,18178152,15998583,15563452,15489334,15325258,14702039,12477932,11812002,8889548 151887 NM_199511,NM_199512,AC048334,CH471052,AB052098,AB266387,AF506819,AK075210,AK292881,AK304561,AL833034,AY333429,AY526612,AY548106,AY548107,AY726593,BC023639,BC042105,BC042128,BC073164,BC086876,BC110842,BC116178,BC116179,BM787873,BX647117,BX647817 NP_955805,NP_955806,EAW79663,EAW79664,EAW79665,BAD05134,BAF48770,AAM33633,BAC11475,BAF85570,BAG65354,CAH56325,AAQ96742,AAS92235,AAS66643,AAS66644,AAH42105,AAH73164,AAH86876,AAI10843,AAI16179,CAH56178,CAH56167,Q76M96 Hs.477128 DRO1|MGC131805|MGC134851|SSG1|URB|okuribin OTTHUMP00000214599|coiled-coil domain-containing protein 80|down-regulated by oncogenes protein 1|nuclear envelope protein okuribin|steroid sensitive gene 1|up-regulated in BRS-3 deficient mouse homolog protein-coding 1605353 CCDC81 coiled-coil domain containing 81 12477932,9373149 60494 NM_021827,NM_001156474,AP001148,AI073989,AK027167,AK131331,AK223168,AK298875,BC126412 NP_068599,NP_001149946,BAB15681,BAD18491,BAD96888,BAG60992,AAI26413,Q6ZN84 Hs.144913 FLJ16339|FLJ23514 coiled-coil domain-containing protein 81 protein-coding 1602861 CCDC82 coiled-coil domain containing 82 17353931,17081983,16344560,15489334,14702039,12477932,11042152,10931946,8889548 79780 AP000848,AP003781,CH471065,AF161533,AF245436,AK027171,AK056790,AK074306,AK313893,AK314669,BC018663,BC033726,BM678039,BU742709,CR609047,DA801410,NM_024725 NP_079001,EAW66979,EAW66980,EAW66981,EAW66982,EAW66983,EAW66984,EAW66985,AAF29020,AAG44484,BAB15683,BAG51809,BAG36616,BAG37226,AAH18663,AAH33726,Q8N4S0,Q9NZY7,ACE87321,ACE86639 Hs.720869,Hs.525088 FLJ23518|HSPC048 HSPC048 protein|coiled-coil domain-containing protein 82 protein-coding 1606128 CCDC83 coiled-coil domain containing 83 14702039,12477932,17633455,17207965 220047 NM_173556,AP000974,AP003128,CH471076,AK093405,AK124113,AK314036,BC040280,AY251167,HC007154,HC044677 NP_775827,EAW75114,EAW75115,BAC04154,BAC85776,BAG36746,AAP20064,AAH40280,Q8IWF9,ADQ31764,CBH19382,CBH30668 Hs.567774 FLJ42119|HSD9|MGC34732 coiled-coil domain-containing protein 83 protein-coding 1602413 CCDC84 coiled-coil domain containing 84 15489334,12477932 338657 NM_198489,AP003392,CH471065,AB094093,BC126469,BC126471,BC144208,BC144209,BC144210 NP_940891,EAW67422,EAW67423,EAW67424,BAC76047,AAI26470,AAI26472,Q86UT8,ADR83140 Hs.534613 DLNB14 coiled-coil domain-containing protein 84 protein-coding 1605892 CCDC85A coiled-coil domain containing 85A 11572484,21102462,12477932,20379614 114800 NM_001080433,AC007743,AC007744,CH471053,AB067499,BC131557 NP_001073902,EAX00077,BAB67805,AAI31558,Q96PX6,AAI56396,AAI57124 Hs.117136 KIAA1912 OTTHUMP00000201056|coiled-coil domain-containing protein 85A protein-coding 1605406 CCDC85B coiled-coil domain containing 85B Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq] 16189514,17014843,16713569,15644333,15489334,12477932,9115212,8848724,8810253,15605074,17873903,17207965 11007 NM_006848,AP006287,CH471076,AI583181,AK312109,BC008796,U63825 NP_006839,EAW74468,BAG35045,AAH08796,AAB05928,Q15834,ADQ32425 Hs.66713 DIPA coiled-coil domain-containing protein 85B|delta-interacting protein A|hepatitis delta antigen interacting protein A|hepatitis delta antigen-interacting protein A protein-coding 1344482 CCDC85C coiled-coil domain containing 85C 16344560,15489334,14702039,12508121,12477932,11181995 317762 NM_001144995,AL110504,AL160313,AK026211,AK093969,AK096927,AK123840,BC029998,BC031990,BC110042,CR592191 NP_001138467,BAB15395,BAC04260,A6NKD9 Hs.709288 FLJ22558|MGC117455 coiled-coil domain-containing protein 85C protein-coding 1604295 CCDC86 coiled-coil domain containing 86 19913121,20628086,17300783,16344560,15302935,12477932,16169070,15607035,19851296,20198315 79080 NM_024098,AP000777,CH471076,AI018490,AK025974,AK123775,AK302329,BC001378,BE795888,CR590195,CR592065,CR596012,CR599766,CR602235,CR611947,CR613603,CR620265,CR622897,CR623418,CR624036,CR624452,CR625528,DA292314,DQ501251 NP_077003,EAW73901,BAB15304,BAC85689,BAG63661,AAH01378,ABF68612,Q6ZW18,Q9H6F5,ABM83529,ABM86770 Hs.4253 FLJ22321|MGC2574 coiled-coil domain-containing protein 86|cyclon|cytokine-induced protein with coiled-coil domain protein-coding 1602481 CCDC87 coiled-coil domain containing 87 17643375,16189514,14702039,12477932 55231 NM_018219,AP001157,AI391530,AK001648,BC034469 NP_060689,BAA91808,AAH34469,Q9NVE4 Hs.121072 FLJ10786 coiled-coil domain-containing protein 87 protein-coding 1347801 CCDC88A coiled-coil domain containing 88A 15753085,15345747,14702039,12477932,10574462,20936779,20462955,16139227,15882442,15749703,19211784,18663145,18316593,18264090,16344560,20515748,20157114,20379614 55704 AK307964,AL036590,AV728179,BC014905,BC015539,BC032683,BC041160,BC045829,BC056885,BC060037,BC078168,BC092515,BC132736,BC142646,BC142700,BC144320,BU570532,BX537985,BX538154,BX647874,BX648138,D64159,DA488073,NM_018084,NM_001135597,AC012358,AC019198,AC092176,CH471053,AB033038,AB125644,AB201172,AF112218,AK001254,AK024717,AK025723,AK124603,AK124761,AK299823 AAH41160,AAH60037,AAH78168,AAI32737,AAI44321,CAD97945,CAD98038,CAI46020,BAA21515,O14997,Q3V6T2,Q6DCA5,Q6PAV0,Q86YH1,Q9NW05,Q9UI01,Q9ULK8,BAG61692,NP_060554,NP_001129069,AAY14932,AAX82029,EAX00099,EAX00100,EAX00101,BAA86526,BAF44475,BAE44387,AAF17206,BAA91584,BAG54056 Hs.292925 APE|DKFZp686D0630|GIRDIN|GIV|GRDN|HkRP1|KIAA1212 AKT-phosphorylation enhancer|Galpha-interacting vesicle-associated protein|G{alpha}-interacting vesicle-associated protein|Hook-related protein 1|akt phosphorylation enhancer|coiled-coil domain-containing protein 88A|g alpha-interacting vesicle-associated protein|girders of actin filament|girdin protein-coding 1603867 CCDC88B coiled-coil domain containing 88B 20936779,14667819,15882442,14702039,12477932,11230166 283234 AP003774,AK074126,AK090436,AK095289,AK126728,AL136799,AY491401,BC030194,BC040232,BC140822,BC140824,BC141866,BC151218,BC151222,BE222756,CR623413,NM_032251 NP_115627,BAB84952,BAC03417,CAB66733,AAR83719,AAH40232,AAI40823,AAI40825,AAI41867,A6NC98,Q8TEI3,Q8TEJ7 Hs.98564 BRLZ|CCDC88|DKFZp434G0920|FLJ00354|FLJ37970|HKRP3|HkRP3 brain leucine zipper domain-containing protein|brain leucine zipper protein|coiled-coil domain-containing protein 88B|hook-related protein 3 protein-coding 1604894 CCDC88C coiled-coil domain containing 88C 14750955,17185515,14702039,12477932,10819331,9110174,8619474 440193 AL133153,AL135818,CH471061,AB040942,AF070587,AK022593,AK302839,AL137353,AL833046,BC028565,BC032316,BC035914,BX248302,BX283171,CR606047,CR607628,CR747498,CR998718,DC402942,DR006516,EG328265,NM_001080414 NP_001073883,EAW81451,BAA96033,BAB14119,BAG64030,CAH10602,AAH28565,AAH32316,AAH35914,CAD62629,Q0P665,Q9H9V0,Q9P219 Hs.525536 DAPLE|FLJ00354|HkRP2|KIAA1509 Dvl-associating protein with a high frequency of leucine residues|coiled-coil domain-containing protein 88C|hDaple|hook-related protein 2|protein Daple protein-coding 1602421 CCDC89 coiled-coil domain containing 89 15489334,15188402,14702039,12477932 220388 NM_152723,AP000642,AK095478,BC044814,CR595564,CH471076 NP_689936,EAW75106,BAC04556,AAH44814,Q8N998 Hs.376241 FLJ38159 bc8 orange-interacting protein|coiled-coil domain-containing protein 89 protein-coding 1348427 CCDC9 coiled-coil domain containing 9 737633 16341674,15489334,15302935,12477932,11256614,11230166 737633 26093 NM_015603,AC008532,CH471126,AK302153,AL050284,BC002787,BC009743,BM737911,CR977312 NP_056418,EAW57468,BAG63524,CAB43385,AAH02787,AAH09743,Q9Y3X0 Hs.227782 DKFZp586M1019 coiled-coil domain-containing protein 9 protein-coding 1349094 CCDC90A coiled-coil domain containing 90A 16344560,14702039,12477932,20877624 63933 NM_001031713,AL023583,CH471087,AK024611,BC008234,BC016850,DA892975,XR_108677 NP_001026883,CAI21582,EAW55346,EAW55347,EAW55348,BAB14934,AAH08234,AAH16850,Q96AQ8 Hs.214043 C6orf79|FLJ20958 chromosome 6 open reading frame 79|coiled-coil domain-containing protein 90A, mitochondrial protein-coding 1605354 CCDC90B coiled-coil domain containing 90B 16169070,14702039,12477932,11256614,11230166,9373149,8125298,18029348,20877624 60492 BC014573,BC017771,BC020783,BC032701,BC048795,BC067764,BC107755,CR593851,CR625695,NM_021825,AP000873,CH471076,AF182412,AF182424,AF271782,AK055972,AK225726,AK304769,AK315787,AL136791 CAB66725,AAH14573,AAH20783,AAI07756,Q9GZT6,NP_068597,EAW75088,EAW75089,EAW75090,EAW75091,AAG14948,AAG14960,AAG44793,BAG51599,BAG65524,BAG38133 Hs.368866 MDS011|MDS025|MGC104239 coiled-coil domain-containing protein 90B, mitochondrial protein-coding 1605359 CCDC91 coiled-coil domain containing 91 20379614,17596511,15489334,14702039,12858163,12808037,12477932,8889548,16189514,20808825,20881960 55297 AC022079,AC024939,AC046131,AC084754,CH471094,AK001950,AK093152,AK309181,AL570537,AY251168,AY289196,BC018679,BC028682,NM_018318,BU739164,CR457277,CR603339,CR749586 NP_060788,EAW96579,EAW96580,EAW96581,EAW96582,BAA91995,BAG52665,AAP20065,AAP42284,AAH18679,AAH28682,CAG33558,CAH18385,Q05D28,Q7Z6B0 Hs.653125 DKFZP779L1558|DKFZp779L1558|FLJ11088|HSD8|p56 GGA binding partner|GGA-binding partner|coiled-coil domain-containing protein 91|p56 accessory protein protein-coding 1604596 CCDC92 coiled-coil domain containing 92 15489334,14702039,12477932,9373149,16169070,17207965,20936779,19936222,8125298 80212 NM_025140,AC068790,AC079315,CH471054,AB015292,AK026124,AK054680,AK124358,AK125866,AK222661,BC017186,CR591916,CR597678,CR605761,CR606813,CR611591,CR623225,CR624819,CR626468 NP_079416,EAW98438,EAW98439,EAW98440,BAB82436,BAB15366,BAG51412,BAG54259,BAD96381,AAH17186,Q53HC0,ADQ32283 Hs.114111 FLJ22471 coiled-coil domain-containing protein 92|limkain beta 2|limkain beta-2 protein-coding 1603642 CCDC93 coiled-coil domain containing 93 16344560,16381901,15815621,15489336,15489334,14702039,12477932,11076863,9110174,8619474 54520 BU621185,DB084596,NM_019044,AC009303,AC009404,CH471103,AB209993,AF070582,AK001858,AK025611,AK057926,AK124683,AK290722,AK309040,AL050001,AY726577,BC005078,BC012052,BC028609,BC080559,BC093018,CR590543 NP_061917,AAX93279,AAX88948,AAX88949,EAW95197,EAW95198,BAE06075,BAA91945,BAB15188,BAF83411,AAH28609,AAH93018,Q4ZG73,Q567U6,CAL38066,CAL38380,CAL38575 Hs.107845 FLJ10996|FLJ25197|MGC13033 coiled-coil domain-containing protein 93 protein-coding 1603997 CCDC94 coiled-coil domain containing 94 17081983,15489334,14702039,12477932 55702 NM_018074,AC005578,AC008616,CH471139,AF091080,AK001236,AK023988,BC000561,BC019096,CR608825,CR619668 NP_060544,AAC33489,EAW69242,EAW69243,AAC72949,BAA91572,BAB14757,AAH00561,AAH19096,Q7LE05,Q9BW85 Hs.21811 FLJ10374 coiled-coil domain-containing protein 94 protein-coding 1603873 CCDC96 coiled-coil domain containing 96 16344560,15489334,14702039,12477932 257236 NM_153376,AC097382,CH471131,CQ783834,AK075056,BC105055,BC112274,BQ009685,DB045256 NP_699207,EAW82373,CAF86884,BAC11373,AAI05056,AAI12275,Q2M329,ADR83062 Hs.656757 FLJ90575|MGC138479 coiled-coil domain-containing protein 96 protein-coding 1602452 CCDC97 coiled-coil domain containing 97 14702039,12477932,19692168,20936779 90324 NM_052848,AC011462,CH471126,AK097586,AL833726,BC007575,BC011577,BC019597,CS674264,CS805737,HC919734,HC919945 NP_443080,EAW57030,EAW57031,CAH56251,AAH07575,AAH11577,Q96F63,CAP12292,CAP40173,CBN73464,CBN73469 Hs.437497 FLJ40267|MGC20255 coiled-coil domain-containing protein 97 protein-coding 1606284 CCDC99 coiled-coil domain containing 99 19468067,20439434,20427577,20966902,15489334,15342556,14702039,12477932,16169070 54908 CA417197,CD653505,DC379275,AC008680,CH471062,AF269167,AK000371,AK074227,AK098009,AK304623,AK308835,NM_017785,AK310442,AY517557,BC012568,BP295943,BU166207 Q96EA4,NP_060255,EAW61495,EAW61496,AAG01408,BAA91119,BAB85022,BAG65405,AAT44530,AAH12568 Hs.368710 FLJ20364|FLJ40690 OTTHUMP00000223150|Spindly|arsenite-related gene 1 protein|coiled-coil domain-containing protein 99|hSpindly|protein Spindly|rhabdomyosarcoma antigen MU-RMS-40.4A|rrhabdomyosarcoma antigen protein MU-RMS-40.4A protein-coding 1344859 CCHCR1 coiled-coil alpha-helical rod protein 1 10545595,7566098,16141233,15146197,10888604,18305892,19242354,18174193,17530646,17340018,17221218,17179747,16713569,15654960,15539411,15214895,14702039,14675183,12909641,12477932,12023963,11875053,11348465,19551138,19851445,19915573,20379614 54535 AB112475,AF216493,AK000204,AK000217,AK000533,AK289446,AK295494,AK310626,AY029160,BC110534,BC110535,CN428429,CR457227,DC357362,NM_019052,NM_001105564,NM_001105563,AB029343,AB088104,AB202104,AC004195,AL662833,AL662844,AL773544,BA000025,BX927139,CH471081,CR753819,CR759815,CR847794,AA356205,AB029331,AB112474 BAD05131,AAF74221,BAA91007,BAA91016,BAA91236,BAF82135,BAG58414,AAK55759,AAI10535,AAI10536,CAG33508,Q0EFB6,Q2L6G6,Q2TB68,Q5STF0,Q5STF1,Q6IAC8,Q769H0,Q8TD31,BAD05130,NP_061925,NP_001099034,NP_001099033,BAA82158,BAC54937,BAE78628,CAI17403,CAI17404,CAI17405,CAM24808,CAM24809,CAM24810,CAM24811,CAM24812,CAM24813,CAI18328,CAM25631,CAM25632,CAM25633,CAM25634,CAM25635,CAM25636,CAM25637,CAM25638,CAM25639,CAI18483,BAB63313,EAX03361,EAX03362,BAA81890 Hs.485075 C6orf18|HCR|MGC126371|MGC126372|SBP HCR (a-helix coiled-coil rod homologue)|OTTHUMP00000165081|OTTHUMP00000165088|StAR-binding protein|alpha-helical coiled-coil rod protein|coiled-coil alpha-helical rod protein 1|pg8|putative gene 8 protein protein-coding 1343153 CCIN calicin The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq] 1580863 12477932,11090452,7641791 881 NM_005893,AL158830,CH471071,AA420997,AF333334,AK313763,BC019251,Z46967 NP_005884,CAD13386,EAW58313,EAW58314,AAK20829,BAG36501,AAH19251,CAA87088,Q13939,Q8WWB2,Q8WX35,ABM81752,ABM84906,ABM84908,ABW03306 Hs.115460 calicin protein-coding 737505 CCK cholecystokinin Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic enzymes and the contraction of the gallbladder. In the brain, its physiologic role is unclear. The cholecystokinin pro-hormone is processed by endo- and exo-proteolytic cleavages. [provided by RefSeq] 1580863,2313635,2313638,2313636,1625798,1358450,1625802,1625799,1626086 10320330,19339394,19086053,19058789,18996102,18555802,18423848,18396340,18234641,18154642,18066654,17964616,17438102,17365745,17332474,17208296,17192493,16185316,15837012,15743365,15740988,15682471,15624269,15533776,15520004,15489334,15354400,15328192,15313848,15100163,15068617,15001692,14764444,12920059,12915664,12789687,12777967,12695525,12627463,12572876,12479974,12477932,12198366,12116188,12116180,12065614,11803530,11724786,11713985,11713982,11713976,11509018,11443535,11368834,11300760,11278902,11232009,11140838,11076522,11025367,10595537,10438490,10400673,9603948,9399627,9275097,9006937,8804068,6529856,6288173,3856870,20734064,16754659,20930049,18577758,3582983,3011648,1370477,16712791,20023595,15152034,15374756,19497313,19741117,19760980,19874574,19914303,20036221,20424473,20468064,20602615,20732371,20457200 2313635,2313638,2313636,1625798,1358450,1625802,1625799,1626086 885 CD250282,CR542226,NM_000729,AC018358,AY514491,CH471055,L00354,L29399,L29400,AK289716,BC008283,BC093055,BC111026,BT006991,CB961869,CB154424,NM_001174138 CAG47022,P06307,Q6FG82,ABM92185,ABW03280,ABW03283,NP_000720,AAR89908,EAW64644,EAW64645,AAA53094,BAF82405,AAH08283,AAH93055,AAI11027,AAP35637,NP_001167609 Hs.458426,Hs.621294 MGC117187 cholecystokinin protein-coding 731770 CCKAR cholecystokinin A receptor This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq] 2314139,1625802,1580863,1625200,1358451,734711,4110816,4110818,4110822,4110817 18583979,19753663,19760980,19874574,20023595,20351714,20424473,20468064,20535329,19086053,18996102,18832011,18776046,18444993,17944886,17597711,17457313,17413452,17413443,16362631,15927089,15786550,15740988,15723764,15634012,15632187,15489334,15363473,15340101,15313848,15108185,15100163,14691070,14534299,12851875,12801592,12777967,12627462,12477932,12424565,12198366,11730982,11549403,11495676,11368834,11300760,10893485,10682840,10595537,10555959,10400673,10026437,9603948,8343165,8503909,19751565,20538960,20558763,19913121,20602615,20628086,20732371,9192855,9006937,7759110,7557108,16754659,18577758 2314139,1625802,1625200,1358451,734711,4110816,4110818,4110822,4110817 886 NM_000730,NG_012053,AC093637,CH471069,D85606,U23430,AK313978,AY322549,BC074987,L13605,L19315 NP_000721,EAW92850,BAA90879,AAA91123,BAG36692,AAP84362,AAH74987,AAA35659,AAA02819,P32238 Hs.129 CCK-A|CCK1-R|CCKRA CCK-A receptor|CCK-AR|cholecystokinin receptor type A|cholecystokinin type-A receptor|cholecystokinin-1 receptor protein-coding 735565 CCKBR cholecystokinin B receptor This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq] 2311323,1358452,2311333,2311332,1358454,1580863,4110816,4110823,4110829,4110821,4110822 10400698,7681836,17474147,8455720,8349705,19086053,18996102,18832011,18444993,18438722,18028338,17962809,17936921,17933865,17889508,17572695,16998832,16963136,16909104,16547500,16242076,16228228,16143134,16142371,16012719,15989082,15850403,15817487,15611055,15520004,15354400,15313848,15292208,15068617,15040018,15036586,15001692,15001623,14759564,14534299,12955087,12851875,12777967,12761477,12695525,12510010,12477932,12429993,12400008,12198366,12189558,12058027,11926817,11896205,11830556,11515749,11368834,11244486,10913157,10741470,10438490,10100325,19751565,9872672,9373149,8995203,8663021,8415658,8343165,8222757,8185170,8125298,7887934,7848914,1280419,19502590,19697327,19874574,20023595,20185366,20201926,20379614,20468064,16754659,19627395,19913121,20602615,20628086,20732371,20932834 2311323,1358452,2311333,2311332,1358454,4110816,4110823,4110829,4110821,4110822 887 AC022762,AC068733,AF074029,CH471064,D21219,L10822,AF239668,AF441129,AK226020,AK292064,AK314266,AY029770,AY322551,BC000740,BT006789,D13305,DQ335648,DQ335649,DQ335650,DQ335651,L04473,L07746,L08112,S70057,S76072,NM_176875 NP_795344,AAC27510,EAW68734,EAW68735,BAA04759,AAC37528,AAF67174,AAN32829,BAF84753,AAK38351,AAP84364,AAH00740,AAP35435,BAA02564,ABC86718,ABC86719,ABC86720,ABC86721,AAA35660,AAA91831,AAA35657,AAB30766,AAB33740,P32239,Q7KYZ8,ABM92194,ABM84663 Hs.203 CCK-B|CCK2R|GASR CCK-B receptor|CCK-BR|CCK2 receptor|CCK2-R|cholecystokinin-2 receptor|cholecystokinin-B receptor/gastrin receptor|gastrin receptor|gastrin/cholecystokinin type B receptor protein-coding 1353511 CCL1 chemokine (C-C motif) ligand 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine receptor CCR8. [provided by RefSeq] 1580863,4891410,4891418,4891422,4891420,4145109,4145441,4891417,4891408,4891409,4891412,4891421 9417093,2212659,19372141,19258923,19057661,17845580,17703412,17693327,17672898,17641040,17122780,16864713,16735693,16679317,16540498,15814739,15489334,15340161,14630801,12967681,12645948,12489497,12477932,12393595,11818437,11133740,11076863,10985253,10942748,10821677,10648464,10409433,9211859,8077676,2809212,1557400,15989956,19117730,19423540,19776237,19865101,20056178,20237496,20406964,20438785,20503287 4891410,4891418,4891420,4145109,4145441,4891417,4891408,4891409,4891412 6346 NM_002981,AB110829,AC011193,CH471147,M57506,AK312183,BC105073,BC105075,M57502,HI574344 NP_002972,BAC98367,EAW80204,AAA52705,BAG35116,AAI05074,AAI05076,AAA61196,P22362,Q76BR7,AAI11915,CBX47661 Hs.72918 I-309|P500|SCYA1|SISe|TCA3 C-C motif chemokine 1|T lymphocyte-secreted protein I-309|inflammatory cytokine I-309|small inducible cytokine A1 (I-309, homologous to mouse Tca-3)|small-inducible cytokine A1 protein-coding 1351854 CCL11 chemokine (C-C motif) ligand 11 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil specific chemokine assumed to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq] 2307177,2307196,1580863,4145448,4140459,4145411,4145415,4145432,4145451,4145457,4145479,4145482,4145442,4145450,2307108,4891485,4145387,4145393,4145395,4145392,4145441,4145443,4145445,4145455,4145458,4145460,4891487,4145452,4145462,4145389,4145437,4145439,4145477,4145447,4145461,4145472,4145481,4145471 19913121,20505746,20536507,20603037,20628086,20628624,17672898,10477718,9712872,9578468,9405404,9299399,9169149,8780731,8676064,8642344,8631813,8609214,8597956,8674119,21052690,10072545,10201960,10415069,10706854,10708591,9558100,19559392,19479237,19351767,19264973,19263529,19258923,19247692,19131662,19056482,19028820,18981162,18974840,18971287,18950617,18844613,18714023,18712274,18699931,18523302,18515987,18398743,18380907,18312691,18312459,18203973,18055844,17845580,17827376,17703412,17620002,17541284,17220216,17016617,16879311,16872505,16864713,16517749,16510147,16461130,16391516,16184405,16029496,15661912,15537425,15489334,15389872,15223611,15207712,15186951,14733956,14725564,14571188,12916705,12915771,12884299,12477932,12393570,12392390,12370400,12234713,12193745,12192108,12082592,12065904,11991282,11966763,11884459,11742272,11390394,11264152,10734104,10642580,15067078,16169070,19338989,19423540,19525930,19578796,19729601,19865101,19925666,19948975,20056178,20227754,20236835,20237496,20306659,20406964,20438785,20503287,20934424,21077277 2307177,2307196,4145448,4140459,4145411,4145415,4145432,4145451,4145457,4145479,4145482,4145442,4145450,2307108,4891485,4145387,4145393,4145395,4145392,4145441,4145443,4145445,4145455,4145458,4145460,4891487,4145452,4145462,4145389,4145437,4145439,4145477,4145447,4145461,4145472,4145481,4145471 6356 NM_002986,NG_012212,AB063614,AB063616,AC005549,CH471147,EF064768,U34780,U46572,Z92709,BC017850,BF197516,CR457421,D49372,U46573,Z69291,Z75668,Z75669 NP_002977,EAW80209,ABK41951,AAC50369,AAC51297,CAB07027,AAH17850,CAG33702,BAA08370,AAA98957,CAA93258,CAA99997,CAA99998,P51671,Q6I9T4,ABM82895,ABM86084 Hs.54460 MGC22554|SCYA11 C-C motif chemokine 11|eosinophil chemotactic protein|eotaxin|eotaxin-1|small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)|small-inducible cytokine A11 protein-coding 1345074 CCL12 chemokine (C-C motif) ligand 12 337987 AF065934 1353724 CCL13 chemokine (C-C motif) ligand 13 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq] 1580863 20628624,8642349,8661057,20139115,9558100,9195948,19258923,18660381,18219197,17851891,17824960,17703412,17541284,17181634,16855189,16625196,15489334,14560935,12915769,12805085,12731055,12477932,12149192,11597922,11400154,11342433,10734104,10477718,10049733,9405404,9060459,8955214,16169070,19423540,19565514,19865101,20056178,20237496,20406964,20438785,20503287 6357 NM_005408,AC002482,AC011193,AJ000979,CH471147,AJ001634,BC008621,BT007385,CR450337,U46767,U59808,X98306,Z77650,Z77651 NP_005399,AAB67307,EAW80205,EAW80206,CAA04888,AAH08621,AAP36049,CAG29333,AAB38703,AAD09362,CAA66950,CAB01111,CAB01112,O95690,Q99616,ABM82423,ABM85614 Hs.414629 CKb10|MCP-4|MGC17134|NCC-1|NCC1|SCYA13|SCYL1 C-C motif chemokine 13|CK-beta-10|monocyte chemoattractant protein 4|monocyte chemotactic protein 4|new CC chemokine 1|small inducible cytokine subfamily A (Cys-Cys), member 13|small-inducible cytokine A13 protein-coding 1604060 CCL14 chemokine (C-C motif) ligand 14 This gene, CCL14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene CCL15, and are represented as GeneID: 348249. [provided by RefSeq] 9405404,8661057,7829101,17353931,8551235,19258923,18602166,18367676,17703412,17691823,16344560,16341674,15489334,15338056,14718574,12477932,11527984,11085751,10978165,10213461,9600961,19553544,19632987,19812544,20379614,20503287 6358 NM_032962,NM_032963,AC004675,AC069363,AF088219,CH471147,Z49269,AA612866,AK122606,BC038289,BC045165,BC050647,BI496964,BM853193,DA821276,Z49270 NP_116738,NP_116739,AAC63329,AAF23982,EAW80105,EAW80106,EAW80107,EAW80108,CAA89263,AAH38289,AAH45165,CAA89264,Q16627,ADR82662 Hs.272493,Hs.714858 CC-1|CC-3|CKB1|CKb1|FLJ16015|HCC-1|HCC-1(1-74)|HCC-1/HCC-3|HCC-3|MCIF|NCC-2|NCC2|SCYA14|SCYL2|SY14 C-C motif chemokine 14|HCC-1(1-74)|HCC-1/HCC-3|chemokine CC-1|chemokine CC-1/CC-3|chemokine CC-3|hemofiltrate CC chemokine 1|new CC chemokine 2|small inducible cytokine subfamily A (Cys-Cys), member 14|small-inducible cytokine A14 protein-coding 1321539 CCL15 chemokine (C-C motif) ligand 15 This gene, CCL15, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene is chemotactic for T cells and monocytes and induces N-acetyl-beta-D-glucosaminidase release in monocytes. It induces changes in intracellular calcium concentration in monocytes and is thought to act through the CCR1 receptor. Read-through transcripts are expressed that include exons from the downstream cytokine gene CCL14, and are represented as GeneID: 348249. [provided by RefSeq] 1580863 20016943,15001559,9346309,9548457,9600961,19258923,17703412,17296613,16737685,16364464,16341674,16034099,15905581,15894113,15340161,15251437,15179048,14984572,12759139,12477932,11832479,11527984,10604595,10320325,10213461,9624581,9558365,9129202,8661057,19669929,19812544,20237496,20379614,20503287,18587271,19203252,19220835,20126378,20616008 6359 NM_032965,AC004675,AC069363,AF088219,AF031587,BX497188,U58914,AI244164,BX098368 NP_116741,AAC63328,AAB94617,AAD10847,Q16663 Hs.272493 HCC-2|HMRP-2B|LKN-1|LKN1|Lkn-1|MIP-1D|MIP-1d|MIP-5|MRP-2B|NCC-3|NCC3|SCYA15|SCYL3|SY15 C-C motif chemokine 15|CC chemokine 3|MIP-1 delta|OTTHUMP00000163955|chemokine CC-2|leukotactin 1|leukotactin-1|macrophage inflammatory protein 5|mrp-2b|new CC chemokine 3|small inducible cytokine subfamily A (Cys-Cys), member 15|small-inducible cytokine A15 protein-coding 1352726 CCL16 chemokine (C-C motif) ligand 16 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq] 1580863 15001559,9642106,19258923,17703412,17122780,16226254,15489334,15265943,15034014,14525962,12477932,11470772,10910894,10671294,10235110,10213461,9596672,9545580,8661057,18240029,19494526,20237496,20503287,18577758,2834384 6360 NM_004590,AB018249,AC004675,AF039954,AF088219,CH471147,AB007454,AF039955,AF055467,BC096352,BC099662,BC099663,BC099664,U91746 NP_004581,BAA35138,AAC97450,AAC63330,EAW80114,BAA24057,AAC97451,AAC28844,AAH99662,AAC05587,O15467 Hs.10458 CKb12|HCC-4|ILINCK|LCC-1|LEC|LMC|MGC117051|Mtn-1|NCC-4|NCC4|SCYA16|SCYL4 C-C motif chemokine 16|IL-10-inducible chemokine|chemokine CC-4|chemokine LEC|liver CC chemokine-1|liver-expressed chemokine|lymphocyte and monocyte chemoattractant|monotactin-1|new CC chemokine 4|small inducible cytokine subfamily A (Cys-Cys), member 16|small-inducible cytokine A16 protein-coding 1349365 CCL17 chemokine (C-C motif) ligand 17 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq] 1626251,2306304,1580863,4145487,4145603,4145489,4145606,4145614,4145513,4145517,4145486,4145491,4145515,4145612,4145494,4145495,4145500,4145604,4145498,4145488,4145602 9070951,20625996,20002703,12832759,12715916,12642832,12615364,12615362,12499558,12485447,12477932,12456591,12441140,12413771,12390321,12193695,12126650,12104083,11468146,10737800,10540332,10493829,9691168,9521068,9430724,9169480,8702936,19258923,19088500,19005490,18824549,18691306,18547160,18435706,18395252,18375080,18271928,18266834,18224687,18191727,18004070,17979978,17967467,17898016,17703412,17641031,17565019,17548604,17546636,17517104,17023689,16859899,16583210,15955100,15944327,15813816,15500644,15489334,15474066,15335355,15113590,15047814,14962085,14767451,14747532,14734737,14677179,13679391,12871855,15067078,18937546,19236603,19371952,19421847,19639049,20237496,20503287,20669282,20800454,20374230 1626251,2306304,4145487,4145603,4145489,4145606,4145614,4145513,4145517,4145486,4145491,4145515,4145612,4145494,4145495,4145500,4145604,4145498,4145488,4145602 6361 AC004382,NM_002987,AC009052,CH471092,EF064767,BC069107,BC112066,BC112068,BE061171,D43767 NP_002978,AAC24308,EAW82921,ABK41950,AAH69107,AAI12067,AAI12069,BAA07824,Q92583 Hs.546294 A-152E5.3|ABCD-2|MGC138271|MGC138273|SCYA17|TARC C-C motif chemokine 17|CC chemokine TARC|T cell-directed CC chemokine|small inducible cytokine subfamily A (Cys-Cys), member 17|small-inducible cytokine A17|thymus and activation-regulated chemokine protein-coding 1345851 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq] 1580863 19913121,20628086,17207965,20674579,9192897,9233607,19258923,19017877,17979978,17909104,17900259,17875202,17703412,17469163,17181634,16984635,16773571,16736095,16670340,16415274,16169070,15702402,15661937,15494534,15489334,14578205,12805086,12716654,12646652,12626578,12477932,12161279,11978786,11745396,10087196,10049593,9570561,9129202,19036375,19357939,19423540,19808030,19958819,20237496,20406964,20438785,20503287,20608885,20568229 6362 NM_002988,AB012113,AC069363,AF082212,AF082213,AF082214,AF111198,CH471147,CS115015,AB000221,AB451458,BC069700,BC096124,BC096125,BC096126,BC096127,CR407660,Y13710 ADQ32936,NP_002979,BAA34368,AAC32287,AAD30390,EAW80102,CAJ15096,BAA21670,BAG70272,AAH69700,AAH96124,AAH96125,AAH96126,AAH96127,CAG28588,CAA74039,P55774 Hs.143961 AMAC-1|AMAC1|CKb7|DC-CK1|DCCK1|MIP-4|PARC|SCYA18 C-C motif chemokine 18|CC chemokine PARC|CC chemokine ligand 18|alternative macrophage activation-associated CC chemokine 1|chemokine (C-C), dendritic|dendritic cell chemokine 1|macrophage inflammatory protein 4|pulmonary and activation-regulated chemokine|small inducible cytokine A18|small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated|small-inducible cytokine A18 protein-coding 1321181 CCL19 chemokine (C-C motif) ligand 19 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq] 1580863 20592280,18577758,20865789,10861057,9153236,19258923,18838169,18757429,18047937,17881634,17825430,17709502,17703412,17597826,17469160,17182562,17082584,16904643,16887149,16678487,16500130,16249377,16081805,15714581,15674360,15546958,15489334,15019823,14871974,14592837,12477932,12474232,11994492,11981810,11929789,11870628,11869682,10706668,9743376,9498785,9235955,9013939,18240029,19540558,19655301,20002784,20237496,20503287 6363 NM_006274,AJ223410,AL162231,CH471071,EF064766,AB000887,AK311945,BC027968,CR456868,CR623730,U77180,U88321 ABW03691,ABM86162,NP_006265,CAA11307,CAH69861,CAH69862,EAW58416,ABK41949,BAA20383,BAG34886,AAH27968,CAG33149,AAC50944,AAC23905,Q6IBD6,Q99731 Hs.50002 CKb11|ELC|MGC34433|MIP-3b|MIP3B|SCYA19 C-C motif chemokine 19|CC chemokine ligand 19|CK beta-11|EBI1 ligand chemokine|EBI1-ligand chemokine|MIP-3-beta|beta chemokine exodus-3|beta-chemokine exodus-3|epstein-Barr virus-induced molecule 1 ligand chemokine|exodus-3|macrophage inflammatory protein 3 beta|macrophage inflammatory protein 3-beta|small inducible cytokine subfamily A (Cys-Cys), member 19|small-inducible cytokine A19 protein-coding 731046 CCL2 chemokine (C-C motif) ligand 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq] 1581155,1581156,1581157,1581158,1581159,1581160,1581161,1581162,1581163,2307014,2307015,2306990,2306982,2306983,2306989,2306992,2306993,2306979,2306980,2306995,2307000,2307041,2307145,2301862,2307195,2306981,2306984,2306985,2306986,2306988,2306998,2306999,2307001,2307002,2307003,2307004,2307006,2307009,2307016,2307024,2307033,2307046,2307052,2307053,2298858,2307054,2307055,2307057,2307059,2307143,2307147,2307176,2307029,2307038,2307008,2307141,2306991,2307114,2307010,2307043,1580863,1580560,1582323,1358456,4891425,4142853,4891433,4891429,4891451,4891458,4891439,4891443,4891466,4143275,4891453,4145441,4891442,4891450,4891460,4891461,4891459,4891427,4145112,4891428,4891456,4145509,4891409 19913121,20485444,20526368,20563852,20570966,20602615,20625355,20628086,20637631,20673868,20677014,20692455,20725607,20726788,19247692,14571188,12391196,10982368,2513477,16050950,16020745,16009638,16009177,16095529,16078996,16004967,16003740,15979992,15976326,15919935,15900302,15883814,15880317,15866653,15848524,15832427,15780578,15745922,15740484,15722361,15677312,15654958,15627719,15611878,15607028,15602730,15599324,15579297,15545821,15529362,15492853,15489334,15488313,15468376,15466648,15389752,15349727,15312962,15308783,15302103,15296827,15288699,15280531,15257681,15226634,15203564,15191916,15191888,15191525,15188361,15167690,15135805,15123743,15115316,15110609,15082170,15081318,15077296,15041705,15034225,15033992,15022320,15016614,15005768,14767014,14733721,14687706,14660607,14651522,14647058,14620921,14602575,14597108,14576080,19234509,19242604,19233564,19228389,19218821,19187096,19185603,19176388,19168721,19167353,19166999,19156168,19155472,19154405,19152916,19148342,19147409,19136823,19132243,19115220,19100389,19099590,19092169,19074885,19072670,19055601,19048368,19034671,17703277,17700210,17694504,17625600,17596666,17582674,17530707,17525255,17522215,17495598,17490777,17486299,17485071,17465499,17458901,17431224,17426779,17424890,17417600,17407231,17404035,17395051,17390372,17384985,17379849,17364892,17322498,17307163,17284607,17283105,17280738,17262819,17218539,17207568,17202846,17187019,17169533,17138827,17098977,17091019,17082648,17065190,17062130,17052731,17032917,17008880,16997300,16988194,16980310,16939660,16934270,16903979,16873204,16872505,16867220,16835702,16828028,16825597,16814297,16804844,16802342,16795034,16781696,19032966,19032844,19032843,19019335,19017462,19014891,19009499,19002595,19001328,18996288,18996102,18977211,18976766,18976655,18962899,18954908,18940815,18937353,18855195,18837094,18829011,18824549,18818748,18808740,18804983,18790652,18784079,18762729,18758234,18702954,18702087,18690522,18678243,18665050,18660489,18660381,18656701,18651322,18646053,18636124,18623207,18619701,18615095,18611860,18570214,18528529,18525219,18522702,18521742,18515987,18508485,18506929,18495743,18469140,18458846,18443042,18439751,18436581,18402383,18395775,18395486,18381789,18373164,18371304,18347511,18314120,18284633,18274642,18272603,18271757,18270300,18266972,18266131,18242157,18230355,18208975,18205260,18203956,18191726,18190912,18186797,18172114,18164957,18158188,18093816,18093183,18089573,18070228,18069417,18061474,18060801,18055544,18042260,18040846,18032547,18022660,17982227,17977907,17975143,17968796,17968528,17949278,17943082,17940904,17934860,17928143,17922439,17920586,17917677,17884268,17822317,17804911,17767550,17763208,17728497,17707134,17706208,17704101,17703412,18069114,16751386,16741188,16733654,16730843,16719905,16712788,16705739,16697654,16697212,16672419,16636603,16636247,16631114,16609683,16597919,16524739,16518346,16516290,16504689,16479072,16474202,16445900,16439891,16439481,16439461,16436595,16427785,16415174,16397773,16362156,16359995,16358960,16356504,16352737,16351713,16318581,16309586,16307829,16280979,16280328,16278381,16249002,16230097,16214031,16213182,16206198,16204411,16195477,16164699,16129702,16116069,16105652,10918580,10751368,10734104,10706668,10644332,10587439,10542238,10529171,10477718,10453044,10068657,9837883,9792674,9792375,9789057,9558113,9501225,9405404,9287323,8989326,8898111,8639605,8631787,8627182,8195247,8107690,8051410,7651403,2923622,2648385,2518726,20432237,20540976,20573518,20504881,20193755,20177146,20187772,19328242,20140679,20406462,20016208,20102417,20368224,20299783,20389059,20610178,20681057,10623817,9973507,10198043,10770925,9670957,12753088,9548499,12207323,9364936,16034137,10985244,19646633,19644155,19639050,19632522,19628738,19555664,19527514,19525388,19494437,19479998,19465691,19450143,19443842,19439012,19420105,19392835,19376162,19373627,19364494,19361458,19360344,19357773,19347053,19332042,19327225,19298002,19287949,19281798,19277984,19267279,19258923,19247801,14550782,14517792,14517168,13679391,12960255,12957789,12946945,12944979,12904997,12846738,12826377,12826189,12805068,12787135,12758167,12724308,12665582,12651071,12632067,12540965,12520365,12520153,12505750,12488502,12485413,12477932,12473373,12470469,12462338,12460032,12443832,12419245,12413001,12410798,12408680,12399623,12397639,12393171,12391099,12374865,12372466,12358851,12351486,12239249,12234797,12204371,12195705,12186702,12183528,12149192,12127997,12117737,12093796,12082252,12078856,12067898,12022754,12009356,11999660,11989790,11912219,11776402,11751881,11750041,11544456,11500196,11154208,11145723,11083865,2501656,2465924,2357211,2322286,2071154,2004761,1857712,1661560,17046994,12089333,11878903,16160188,15481145,11313374,16697675,15194470,16750572,16206161,15630704,11350939,8642344,20040767,20484496,20374368,20523065,19642908,20576301,21033620,11844145,11929421,15067078,17416748,18021937,18637012,18684531,18718072,19170716,19211266,19215923,19258635,19371341,19409809,19423540,19426980,19441883,19441886,19446037,19458908,19496969,19506371,19524871,19525846,19558503,19565503,19576791,19587356,19587833,19625220,19641159,19642141,19658300,19664934,19668598,19706805,19711822,19720836,19726280,19729601,19755790,19755933,19773451,19777601,19781803,19782713,19819989,19822078,19828696,19833726,19844201,19851831,19864434,19865101,19866475,19881959,19885629,19902472,19904283,19906815,19923858,19926874,19929093,19938194,19941075,19942750,19948975,19957783,19995900,20000039,20004457,20029197,20029451,20031554,20038977,20041183,20056091,20056178,20087947,20097750,20111728,20137666,20196868,20228199,20231199,20237358,20237496,20299238,20339010,20339966,20351714,20364004,20406964,20414371,20416077,20430117,20431065,20438785,20442634,20446021,20449800,20449809,20451256,20452482,20488574,20497022,20503287,20531015,19317061,19099689,19760754,20349326,20370601,20811626,20880493,20947712,20960176,20962626,21037509,21072187,20125127,20617559,19573434,20100200,20737475,21102463 1581155,1581156,1581157,1581158,1581159,1581160,1581161,1581162,1581163,2307014,2307015,2306990,2306982,2306983,2306989,2306992,2306993,2306979,2306980,2306995,2307000,2307041,2307145,2301862,2307195,2306981,2306984,2306985,2306986,2306988,2306998,2306999,2307001,2307002,2307003,2307004,2307006,2307009,2307016,2307024,2307033,2307046,2307052,2307053,2298858,2307055,2307057,2307059,2307143,2307147,2307176,2307029,2307038,2307008,2307141,2306991,2307114,2307010,2307043,1580560,1582323,1358456,4891425,4142853,4891433,4891429,4891451,4891458,4891439,4891443,4891466,4143275,4891453,4145441,4891442,4891450,4891460,4891461,4891459,4891427,4145112,4891428,4891456,4145509,4891409 6347 D26087,M28225,M31626,M37719,X60001,Y18933,AK311960,AV733621,BC009716,BG530064,BT007329,M24545,M26683,M28226,S69738,S71513,X14768,NM_002982,NG_012123,AC005549,AF519531,AY357296,CH471147 Q6UZ82,EAW80212,BAA05080,AAA60308,AAA36330,AAA18102,CAC14049,BAG34900,AAH09716,AAP35993,AAA18164,AAA96708,AAA60309,AAB29926,AAB20651,CAA32876,P13500,NP_002973,AAM54046,AAQ75526,EAW80211,ABM84651,ABW03626 Hs.303649 GDCF-2|HC11|HSMCR30|MCAF|MCP-1|MCP1|MGC9434|SCYA2|SMC-CF C-C motif chemokine 2|monocyte chemoattractant protein 1|monocyte chemoattractant protein-1|monocyte chemotactic and activating factor|monocyte chemotactic protein 1|monocyte secretory protein JE|small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)|small inducible cytokine subfamily A (Cys-Cys), member 2|small-inducible cytokine A2 protein-coding 1347908 CCL20 chemokine (C-C motif) ligand 20 1580863 19567485,19913121,20628086,19303953,8076819,10438902,9038201,10521347,9129037,19492413,19350575,19340288,19324905,19305396,12089333,15972662,18577758,20511548,20595617,20400327,20439195,19233848,19006683,18980993,18757306,18703490,18684866,18576931,18512817,18086840,18047937,17903302,17664181,17562763,17548638,17295217,17241869,17133360,17075975,16820679,16764701,16531471,16215992,16095490,16034074,15815621,15679580,15671814,15618437,15489334,15474097,15336571,15069060,14714554,12821122,12760962,12684696,12528183,12496186,12477932,12427784,12414801,12356943,12239608,12149255,12067311,12010510,11994436,11994140,11877260,11807793,11532377,11352563,11133838,11083865,11035086,10601351,10064080,9294137,9223454,9169459,9013939,20459729,20420712,17545018,18240029,19295614,19423540,19479364,19644053,19784662,19797510,19885605,20023216,20054338,20064082,20237496,20406964,20438785,20819093 6364 NM_004591,NM_001130046,AC073065,CH471063,BC020698,D17012,D86955,U64197,U77035,HI574034 NP_004582,NP_001123518,AAX93214,EAW70877,EAW70878,AAH20698,BAA13191,AAB61534,AAC50943,P78556,ABM82899,ABM87840,CBX47506 Hs.75498 CKb4|LARC|MIP-3a|MIP3A|SCYA20|ST38 C-C motif chemokine 20|CC chemokine LARC|MIP-3-alpha|beta chemokine exodus-1|beta-chemokine exodus-1|exodus-1|liver and activation-regulated chemokine|macrophage inflammatory protein 3 alpha|small inducible cytokine subfamily A (Cys-Cys), member 20|small-inducible cytokine A20 protein-coding 1323745 CCL21 chemokine (C-C motif) ligand 21 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 (CCR7) that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq] 1580863 20488224,20797713,10861057,9235955,10201891,19180477,19110536,19082456,18802075,18794853,18757429,18354239,17982129,17949547,17890452,17881634,17495955,17474076,17469160,17331965,16904643,16887149,16713569,15934082,15863780,15674360,15569314,15546958,15489334,14978072,14726959,14726633,14709406,14667884,14592837,14517790,12975309,12847218,12707342,12651610,12477932,12393730,12393410,11970971,15073111,11943728,11929789,11083865,10706668,9585422,9507024,9419363,9300671,9257816,15972662,20488940,20973039,17460916,18240029,19644859,19674979,19750015,19832038,19847900,20049410,20219786,20233754,20439292,20444755,20461788,20498205,20453842,18577758,20739459,20889506 6366 NM_002989,AF030572,AJ005654,AL162231,CH471071,EF064765,AB002409,AF001979,AK311901,AY358887,BC027918,BI833188,CR450326,CR615435,U88320 NP_002980,AAQ13417,CAA06653,CAH69863,CAH69864,EAW58415,ABK41948,BAA21817,AAB86594,BAG34842,AAQ89246,AAH27918,CAG29322,AAB91454,O00585,Q5VZ73,Q6ICR7,ABM82974,ABM86168 Hs.57907 6Ckine|CKb9|ECL|MGC34555|SCYA21|SLC|TCA4 C-C motif chemokine 21|Efficient Chemoattractant for Lymphocytes|OTTHUMP00000021303|beta chemokine exodus-2|beta-chemokine exodus-2|exodus-2|secondary lymphoid tissue chemokine|secondary lymphoid-tissue chemokine|small inducible cytokine subfamily A (Cys-Cys), member 21|small-inducible cytokine A21 protein-coding 1351526 CCL22 chemokine (C-C motif) ligand 22 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq] 2306307,2306304,2306306,1580863,4145489,4891473,4891471,4145441,4891474,4145517,4891472,4145515,4891475,4145498,4145488 20337996,10861057,9151897,9381181,9743322,19298002,19258923,19244125,18547160,18515987,18435706,18287226,18271928,18266834,18224687,18208895,18178833,18047937,20625996,20348247,20525891,16344560,17979978,17967467,17703412,17517104,17008059,16614259,16583210,16453150,15944327,15813816,15714581,15489334,15210758,15187160,15113590,14962085,14747532,14718574,12851650,12715916,12642832,12485447,12477932,12407016,12193695,11981828,11818437,11792124,11390394,11352815,11241286,10493829,9933589,9691168,9430724,9312138,16343773,9826729,20002703,15067078,19175890,19371952,19756997,19942450,20237496,20503287 2306307,2306304,2306306,4145489,4891473,4891471,4145441,4891474,4145517,4891472,4145515,4891475,4145498,4145488 6367 NM_002990,AC004382,AC009052,CH471092,AK311970,BC027952,U83171,U83239,DA815965,DB154173,EF064764 NP_002981,AAC24306,EAW82918,BAG34909,AAH27952,AAB58360,AAB53372,O00626,ABM81848,ABM84237,ABM84998,ABM87624,ABW03327,ABK41947 Hs.534347 A-152E5.1|ABCD-1|DC/B-CK|MDC|MGC34554|SCYA22|STCP-1 C-C motif chemokine 22|CC chemokine STCP-1|MDC(1-69)|macrophage-derived chemokine|small inducible cytokine A22|small inducible cytokine subfamily A (Cys-Cys), member 22|small-inducible cytokine A22|stimulated T cell chemotactic protein 1|stimulated T-cell chemotactic protein 1 protein-coding 1348813 CCL23 chemokine (C-C motif) ligand 23 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist at CC chemokine receptor 1. Two alternatively spliced variants encoding different active isoforms have been identified. [provided by RefSeq] 1580863 9886417,9104803,19265684,19258923,18668547,18258606,17703412,17513790,17371990,16378600,15927850,15905581,15489334,12477932,11060285,10737895,10660125,2834384,10409433,10213461,9558365,9187369,9129202,8661057,20187767,1374236,19951712,20056178,20097574,20237496,20503287 6368 NM_005064,NM_145898,AC069363,AF088219,CH471147,BC093970,BC143310,U58913,U67128,U85767 NP_005055,NP_665905,AAC63326,AAC63327,EAW80103,EAW80104,AAH93970,AAI43311,AAD10846,AAD00161,AAB51134,P55773 Hs.169191 CK-BETA-8|CKb8|Ckb-8|Ckb-8-1|MIP-3|MIP3|MPIF-1|SCYA23 C-C motif chemokine 23|C6 beta-chemokine|hmrp-2a|macrophage inflammatory protein 3|myeloid progenitor inhibitory factor 1|small inducible cytokine subfamily A (Cys-Cys), member 23|small-inducible cytokine A23 protein-coding 1321033 CCL24 chemokine (C-C motif) ligand 24 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq] 1580863,4145448,4891485,4891483,4891484,4891495,4891487,4145109,4891496 17207965,20659406,9104803,19264973,19258923,19247692,18712274,18055844,17917245,17908961,17703412,17630924,16391516,16304252,15744457,15580493,15489334,15340161,10713092,15207712,14718574,12853948,12477932,12218106,12193745,12192108,12034562,11467997,11286614,11141953,10913244,10415058,9598329,9365122,19423540,19525930,19828696,20056178,20143648,20236835,20237496,20406964,20438785,20503287,21077277 4145448,4891485,4891483,4891484,4891495,4891487,4145109,4891496 6369 NM_002991,AC005102,CH471220,AJ223461,AK312216,BC069072,BC069391,U85768 NP_002982,AAD15410,EAW71772,CAA11383,BAG35149,AAH69072,AAH69391,AAB51135,O00175,ADQ32923 Hs.247838 Ckb-6|MPIF-2|MPIF2|SCYA24 C-C motif chemokine 24|CK-beta-6|OTTHUMP00000210225|eosinophil chemotactic protein 2|eotaxin-2|myeloid progenitor inhibitory factor 2|small inducible cytokine subfamily A (Cys-Cys), member 24|small-inducible cytokine A24 protein-coding 1313608 CCL25 chemokine (C-C motif) ligand 25 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. [provided by RefSeq] 1580863 2834384,20738854,10640743,9285413,10544196,19258923,19003934,18245522,17703412,17510295,16517733,12671049,11825560,11805153,11238115,10974041,10706668,10498628,10229797,11046037,9722960,12477932,18240029,20081876 6370 NM_005624,AC008946,CH471139,AB046579,AI313430,AI961745,AK292662,BC125136,BC130561,BC144463,CR603063,U86358 NP_005615,EAW68951,EAW68952,BAB62257,BAF85351,AAI25137,AAI30562,AAI44464,AAB69981,O15444,Q08AK2,ADR82824 Hs.310511 Ckb15|MGC150327|SCYA25|TECK C-C motif chemokine 25|Ck beta-15|TECKvar|chemokine TECK|small inducible cytokine subfamily A (Cys-Cys), member 25|small-inducible cytokine A25|thymus expressed chemokine|thymus-expressed chemokine protein-coding 1344177 CCL26 chemokine (C-C motif) ligand 26 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq] 1580863,4891493,4891487 10373330,19379605,19331716,19258923,18844613,18774776,18712274,18055844,17900656,17703412,17541284,17490641,17073866,16604488,16453027,16391516,16264039,16084752,15863444,15784470,15521376,15489334,15207712,15039444,12975309,12853948,12689946,12477932,12192108,12061839,11748272,11544308,11425309,11329013,10488147,10415065,9847074,20505746,19141347,19141349,19423540,19525930,19567623,20056178,20059579,20143648,20236835,20406964,20438785,20503287,20974991,21077277 4891493,4891487 10344 NM_006072,AC005102,CH471220,EF064763,AA926779,AB010447,AB016542,AF096296,AF124601,AF142434,AY358893,BC069394,BC093773,BC101665,BG211121,NG_015989 NP_006063,AAD15411,EAW71771,ABK41946,BAA84579,BAA36704,AAF09265,AAD22197,AAD46495,AAQ89252,AAH69394,AAH93773,AAI01666,Q9Y258 Hs.131342 IMAC|MGC126714|MIP-4a|MIP-4alpha|SCYA26|TSC-1 C-C motif chemokine 26|CC chemokine IMAC|MIP-4-alpha|chemokine N1|eotaxin-3|macrophage inflammatory protein 4-alpha|small inducible cytokine A26|small inducible cytokine subfamily A (Cys-Cys), member 26|small-inducible cytokine A26|thymic stroma chemokine-1 protein-coding 1312228 CCL27 chemokine (C-C motif) ligand 27 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq] 1626250,1626251,1580863 19913121,20628086,14767451,12642842,12133963,11821900,11821893,10725697,10725696,10559234,10556532,8889548,16433680,15679580,15598438,15466853,15335355,10588729,19258923,19074885,18772332,18453562,18266834,18025475,17703412,17581202,16675558,12477932,18240029,19639049,20503287,18577758 1626250,1626251 10850 NM_006664,AL162231,CH471071,CQ813007,EF064762,AB010445,AF082393,AJ243542,BC148263,BM719357,CS642700 NP_006655,CAH69860,EAW58418,EAW58421,CAG29883,ABK41945,BAA87046,AAD41238,CAB46983,AAI48264,Q5VZ77,Q9Y4X3,AAI66648,CAO79486,EAW58420 Hs.648124 ALP|CTACK|CTAK|ESKINE|ILC|PESKY|SCYA27 C-C motif chemokine 27|CC chemokine ILC|IL-11 R-alpha-locus chemokine|IL-11 Ralpha-locus chemokine|cutaneous T-cell attracting chemokine|cutaneous T-cell-attracting chemokine|skinkine|small inducible cytokine subfamily A (Cys-Cys), member 27|small-inducible cytokine A27 protein-coding 1349737 CCL28 chemokine (C-C motif) ligand 28 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. [provided by RefSeq] 1580863 18240029,19659860,20237496,20503287,17207965,10781587,19258923,19003934,18426876,17912348,17703412,16785557,16581045,16433680,15489334,12671049,12538707,12477932,11825560,11295038,10975800,19913121,20628086,2834384,18577758 56477 NM_148672,AC025457,CH471119,CQ813003,AF110384,AF220210,AF266504,AK307307,AK312120,BC062668,BC069532,CS642694,EF064761,HM067700 ADQ32935,NP_683513,EAW56057,EAW56058,EAW56059,EAW56060,CAG29882,AAG43193,AAF87205,AAG16691,BAG35056,AAH62668,AAH69532,Q9NRJ3,ABK41944,CAO79483,ADH95184 Hs.656904 CCK1|MEC|MGC71902|SCYA28 C-C motif chemokine 28|CC chemokine CCL28|OTTHUMP00000221629|chemokine (C-C motif) ligand 28 splice variant chi|mucosae-associated epithelial chemokine|small inducible cytokine A28|small inducible cytokine subfamily A (Cys-Cys), member 28|small-inducible cytokine A28 protein-coding 735784 CCL3 chemokine (C-C motif) ligand 3 Macrophage inflammatory protein-1 is a so-called monokine that is involved in the acute inflammatory state in the recruitment and activation of polymorphonuclear leukocytes (Wolpe et al., 1988 [PubMed 3279154]). Sherry et al. (1988) [PubMed 3058856] demonstrated 2 protein components of MIP1, called by them alpha and beta.[supplied by OMIM] 2307114,2307143,2307145,1580863 20725607,18802359,18762952,18689282,18678243,18619972,18559339,18346864,18242850,18196935,18164590,18076643,18070228,17914560,17656823,17625600,17572013,17357337,17330138,17270460,17005260,16849642,16712957,16507178,16439481,16427155,16379602,16234357,15728180,15602730,15588341,15585099,15489334,15077296,14733721,14680814,12771199,12651617,12651610,12603824,12560229,12543931,12506012,12477932,12447751,12445801,12413001,12401480,12393716,12393595,12377943,12370381,12218153,12200385,12186702,12070155,11861262,11751963,11700073,11461120,11278300,11086082,10985253,10964543,10843431,10751368,10602409,10490959,10477718,10347159,10202040,10201982,10198043,9973507,9885903,9520456,9405404,9366434,9207199,9175116,9092555,8687429,8613703,8573157,8568261,8541527,8525373,8460127,7695626,7594543,7545673,7537510,3279154,3086300,3058856,2521882,2271120,1972563,1694014,1296815,1004873,16393999,10644351,9653130,10446313,10089882,11023526,16160188,15481145,12089333,11602715,16697675,10820198,9658081,9576751,9420238,9359702,8906795,8898753,15638726,12370346,16354571,15817944,15780175,20420712,15001559,10660125,10857861,10734056,10679098,10072545,10841574,10706735,19527514,19494336,19463769,19074730,19055602,19019335,18818748,15142381,12960275,12574335,10470075,8077676,15531890,12408680,15067078,19587705,19841187,19917679,20041127,20042585,20056178,20124101,20518837,20702408,20482449,20959807,21030011 2307114,2307143,2307145 6348 NG_027730,CR591007,CR591252,NM_002983,AC069363,CH471147,D90144,EF064769,M23178,S82234,X04018,AF043339,BC071834,BC171831,BC171891,BX103455,CR595320,D00044,D63785,M23452,M25315,X03754 NP_002974,EAW80100,BAA14172,ABK41952,AAA35858,AAB47170,CAA27643,AAC03539,AAH71834,AAI71831,AAI71891,BAA00029,BAA09855,AAA36316,AAA57255,CAA27388,P10147,Q14745 Hs.514107 G0S19-1|LD78ALPHA|MIP-1-alpha|MIP1A|SCYA3 C-C motif chemokine 3|G0/G1 switch regulatory protein 19-1|LD78 alpha beta|PAT 464.1|SIS-beta|macrophage inflammatory protein 1-alpha|small inducible cytokine A3 (homologous to mouse Mip-1a)|small-inducible cytokine A3|tonsillar lymphocyte LD78 alpha protein protein-coding 1345914 CCL3L1 chemokine (C-C motif) ligand 3-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene and a partial pseudogene. This record represents the more telomeric full-length gene. [provided by RefSeq] 1580863 20628649,19279442,19100722,19055602,18989363,18781860,18776933,18498240,18360285,17971457,17952079,17874089,17604289,17330138,17062725,15962231,15728180,15637236,15489334,15340161,15028295,12477932,12355456,11734558,11449371,11390394,10961862,10471782,10364178,8661057,7566098,2271120,1972563,1694014,1296815,19741716,19812560,19812561,19812562,19812563,19886839,19898927,20044164,20095832,20442634,20442635,20659124,21084992 6349 NG_023369,NM_021006,NG_004113,AC131056,D90145,M24110,AA362164,AV739733,BC027888,BC107710,BC146914,X52149,AC233699 NP_066286,BAA14173,AAA35859,AAH27888,AAI07711,AAI46915,CAA36397,P16619 Hs.512683 464.2|CCL3L3|D17S1718|G0S19-2|LD78|LD78BETA|MGC104178|MGC12815|MGC182017|MIP1AP|SCYA3L|SCYA3L1 C-C motif chemokine 3-like 1|G0/G1 switch regulatory protein 19-2|LD78-beta(1-70)|PAT 464.2|small inducible cytokine A3-like 1|small-inducible cytokine A3-like 1|tonsillar lymphocyte LD78 beta protein protein-coding 1604917 CCL3L2 chemokine (C-C motif) ligand 3-like 2 15028295,12355456,1296815 390788 NG_004113,AC131056,D12592 CCL3L2|G0S19-3|LD78gamma|SCYA3L2 pseudo 1605181 CCL3L3 chemokine (C-C motif) ligand 3-like 3 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene and a partial pseudogene. This record represents the more centromeric full-length gene. [provided by RefSeq] 15067078,1694014,2271120,15728180,15028295,12477932,12355456,11734558,10364178,8889548,8661057,7566098,1972563,1296815 414062 NG_023325,NM_001001437,NG_004113,AC131056,AA380745,AI302038,BC007783,BC063472,BC146919,BC147008,BC147013,BT006783,CF128666 NP_001001437,AAH07783,AAI46920,AAI47009,AAI47014,AAP35429,P16619 Hs.512304 464.2|CCL3L1|D17S1718|LD78|LD78BETA|MGC12815|SCYA3L|SCYA3L1 C-C motif chemokine 3-like 1|G0/G1 switch regulatory protein 19-2|G0S19-2|LD78-beta(1-70)|PAT 464.2|chemokine (C-C motif) ligand 3-like, centromeric|small inducible cytokine A3-like 1|small-inducible cytokine A3-like 1|tonsillar lymphocyte LD78 beta protein protein-coding 1353278 CCL4 chemokine (C-C motif) ligand 4 1580863 20482449,10929056,9973507,9759849,2521882,9743377,9558100,10841574,19358850,19258923,19103522,19074730,19057841,19047106,18802359,18623207,18368065,18346864,18203956,18076643,17703412,17644519,17330138,17005260,16963564,16773571,16625196,16379602,15897346,15843566,15831560,15645140,15588341,15585099,15529362,15489334,14761932,14746807,14718574,14673550,14582706,12679478,12651610,12603824,12477932,12445801,12427015,12411442,12401480,12393716,12393595,12377943,12218153,12200385,12070155,12036855,11751963,11685466,11470920,11278300,11129109,10985253,10900358,10751368,10608777,10540332,10395844,10049593,9521068,9520456,9405404,8663314,8661057,8525373,8134838,8077676,7622448,7594543,7566098,2809212,2568930,2521353,2462251,2247088,1972563,1894635,9256481,16393999,16841089,10938094,10089882,11023526,16160188,15481145,12089333,11602715,16697675,15638726,12574335,10470075,11485305,11313374,10820198,10644351,9658081,9576751,9420238,9359702,8906796,8906795,8898753,16354571,15817944,15780175,15142381,12370346,15067078,19328808,19565503,19620252,19841187,19846870,19917679,20056178,20200978,20503287,20952681,20702408,20959807,21030011 6351 NM_002984,AC069363,AY766459,CH471147,AA362169,AY312578,AY766446,AY766448,BC027961,BC104226,BC104227,BC107433,CR542119,J04130,M23502,M25316,M57503,X16166,X53683 NP_002975,AAX07292,AAX07293,EAW80098,AAR16183,AAX07305,AAX07307,AAI04227,AAI04228,AAI07434,CAG46916,AAA51576,AAA36656,AAA57256,AAA36752,CAA34291,CAA37723,P13236,Q6JSE0,Q7M4M2 Hs.75703 ACT2|AT744.1|G-26|LAG1|MGC104418|MGC126025|MGC126026|MIP-1-beta|MIP1B|MIP1B1|SCYA2|SCYA4 C-C motif chemokine 4|CC chemokine ligand 4|G-26 T-lymphocyte-secreted protein|HC21|LAG-1|MIP-1-beta(1-69)|PAT 744|SIS-gamma|T-cell activation protein 2|lymphocyte activation gene 1 protein|lymphocyte-activation gene 1|macrophage inflammatory protein 1-beta|secreted protein G-26|small inducible cytokine A4 (homologous to mouse Mip-1b)|small-inducible cytokine A4 protein-coding 1354210 CCL4L1 chemokine (C-C motif) ligand 4-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more centromeric gene. [provided by RefSeq] 19898927,19279442,19148142,18464913,18368065,17330138,16625196,15843566,15489334,15028295,14673550,12477932,12401480,12355456,12070155,11685466,10540332,9521068,8661057,8525373,8134838,2809212,2568930,2521882,2521353,2462251,2247088,1972563,1894635,20659124 9560 BC171857,NG_004113,AC131056,AX400017,AY079147,AY766460,X53682,AY766447,AY766449,AY766450,AY766451,AY766452,AY766453,AY766454,NM_001001435,AY766456,AY766457,AY766458,BC070310,BC092445,BC130456,BC130458,BC144393,BC144394,BC146944,BC146958,BC171864,CD366524,CD521054,AY766455,AC233699 AAI71857,NP_001001435,CAD33461,AAL87008,AAX07294,CAA37722,AAX07306,AAX07308,AAX07309,AAX07310,AAX07311,AAX07312,AAX07313,AAX07314,AAX07315,AAX07316,AAX07317,AAH70310,AAH92445,AAI30457,AAI30459,AAI44394,AAI44395,AAI46945,AAI46959,Q8NHW4,AAI46446,AAI48785,AAI71864 Hs.655293,Hs.661942 AT744.2|CCL4L|CCL4L2|LAG-1|LAG1|SCYA4L C-C motif chemokine 4-like|MIP-1-beta|chemokine (c-c motif) ligand 4-like|lymphocyte activation gene 1 protein|macrophage inflammatory protein 1-beta|macrophage inflammatory protein-1b2|monocyte adherence-induced protein 5-alpha|small inducible cytokine 4-like|small inducible cytokine A4-like, chemokine (C-C motif) ligand 4-like|small-inducible cytokine A4-like protein-coding 1604447 CCL4L2 chemokine (C-C motif) ligand 4-like 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more telomeric gene. [provided by RefSeq] 18464913,16625196,15843566,15489334,15028295,14673550,12477932,12401480,12355456,12070155,10540332,9521068,8661057,8525373,8134838,2809212,2568930,2521882,2521353,2462251,2247088,1972563,1894635 388372 NM_207007,NG_004113,AC131056,AY766460,AY766461,M69203,AY766447,AY766449,AY766450,AY766451,AY766452,AY766453,AY766454,AY766455,AY766456,AY766457,AY766458,BC070310,BC092445,BC130456,BC130458,BC144393,BC144394,BC146944,BC146958,BC171864,BC171857 NP_996890,AAX07295,AAX07296,AAX07297,AAX07298,AAX07299,AAX07300,AAX07301,AAX07302,AAX07303,AAX07304,AAB00790,AAX07306,AAX07308,AAX07309,AAX07310,AAX07311,AAX07312,AAX07313,AAX07314,AAX07315,AAX07316,AAX07317,AAH70310,AAH92445,AAI30457,AAI30459,AAI44394,AAI44395,AAI46945,AAI46959,AAI71864,AAI71857,ADR83445 Hs.655293,Hs.661942 AT744.2|CCL4L|SCYA4L CC chemokine ligand 4L1|CC chemokine ligand 4L1d2|CC chemokine ligand 4L2|chemokine (C-C motif) ligand 4-like 1, telomeric|chemokine (C-C motif) ligand 4-like 2|lymphocyte activation gene 1|macrophage inflammatory protein-1b2|small inducible cytokine 4-like|small inducible cytokine A4-like protein-coding 1604061 CCL5 chemokine (C-C motif) ligand 5 This gene is one of several CC cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor CCR5 and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. [provided by RefSeq] 1626251,2303121,2307105,2307059,2307184,2307142,2307143,2307146,2306307,2307192,2307195,2307060,2307065,2306302,2307108,2307141,2307164,2307165,2307171,2307176,2307183,2307196,2307107,2307103,2307177,2307110,2307104,2307112,2307038,2307063,2307114,2307061,2307062,2307064,2307102,2317568,2317567,4889904,4891431,4889977,4892041,4889989,4889990,4890036,4891430,4890012,4891397,4891406,4889906,2317272,4891914,4891915,4145112,4891379,4891434,4891452,4891951,4890027,4890025,4891481,4891911,4889880,4889905,4889978,4145452,4891446,4891476,4891879,4890030,4890034,4890004,4890015,4891479,4891880,4891448,4891436,4891440,4892021,4889940,4891881,4891884,4890016,4891381,4891912,4891917,4890028,4890013,4892019,4889998,4890014,4891477,4891916,4892112,4889980 19913121,20628086,20725607,20729133,20799037,20805685,17504241,16379602,9517988,17711627,19847187,18337562,18336625,18306985,18218038,18217191,18195571,18191726,18186796,18162936,18060801,17990036,17989610,17986095,17984846,17922439,17909104,17884183,17728497,17703412,17700210,17678915,17678722,17674321,17653092,17625600,17620002,17599774,17596666,17585540,17565659,17560067,17541284,17540042,17530998,17519498,15001559,10770925,10734056,10910894,9558100,10713092,10640778,10415069,10490959,10583963,19628738,19607806,19493460,19425063,19420105,19382425,19360811,19349390,19347053,19342158,19335954,19334035,19333930,19264973,19258923,19247692,19242540,19240255,19201759,19172384,19157676,19156204,19140875,19124744,19122644,19105348,19099677,19099590,19073147,19064579,19017985,18986692,18958622,18956302,18936436,18824472,18800033,18790652,18716401,18696265,18678243,18676680,18636124,18559339,18461620,18447907,18439751,18426815,18415893,18385174,18361934,17488389,17426779,17417600,17416433,17413295,17328045,17305874,17207890,17202846,17117952,17112859,17101151,17076674,17075265,17074812,17063508,17038526,17027916,17018392,17016617,17015691,17005260,16997300,16995340,16988194,16911685,16897666,16865553,16864989,16864713,16855620,16807236,16799229,16791620,16719905,16635746,16614115,16564576,16517749,16511411,16507178,16489254,16468043,17494888,16442182,16441357,16437690,15265023,15256089,15239133,15228586,15192276,15140220,15122808,15064621,15021309,15001640,14687706,14687494,14651522,14647058,14637022,12960233,12858455,12847218,12842758,12837926,12819030,12803993,12789231,12763925,12753088,12668159,12663241,12660426,12610055,12557141,12509457,12477932,12475226,12462338,12445801,12377943,12359436,12270118,12218153,12204866,12200463,12173306,12165487,12164740,12154092,12139952,20734064,20884746,20978355,21054877,20869067,20432237,20540976,20861350,2834384,16340468,16323127,16314800,16254204,16246299,16239564,16161154,16078996,16046258,16032408,16029496,16024972,15978191,15971427,15923218,15899487,15890969,15863470,15851378,15850807,15848524,15794069,15793370,15781227,15742444,15740484,15715189,15645140,15611878,15609310,15602730,15592421,15588341,15537425,15500552,15489334,15488313,15482330,15471370,15468376,15459010,15368437,15319853,15302103,15280531,12114533,12093895,12081195,11976403,11959378,11929421,11920567,11907119,11897701,11844139,11816717,11751963,11750041,11544456,11509627,11500196,11390394,11197694,11125885,11116158,11083865,10985253,10964543,10477718,10213461,10200305,9889151,9516414,9469451,9405404,9289016,9009162,8663314,8642344,8576227,8573157,8525373,7545673,7542919,7537088,2456327,1691736,1380064,9256481,16393999,16343773,16841089,12089333,11878903,10872839,9826729,15481145,12953261,11602715,11313374,16697675,16206161,15630704,10882583,10820198,10775626,10774549,10644351,9576751,9420238,9359702,8976200,8898753,15857508,16354571,15817944,15780175,15142381,11350939,11449371,20523058,15067078,17416748,18240029,19170196,19201454,19258635,19423540,19427114,19458908,19524301,19578796,19625176,19646363,19658300,19692168,19699525,19730683,19779041,19830727,19841187,19846984,19874825,19893003,19917679,19953896,20038229,20186291,20203694,20237496,20299965,20331378,20378664,20395963,20406964,20430255,20438785,20453000,20503287,20518834,20531015,7524281,19533303,19703339,20685145,19226274 1626251,2303121,2307105,2307059,2307184,2307142,2307143,2307146,2306307,2307192,2307195,2307060,2307065,2306302,2307108,2307141,2307164,2307165,2307171,2307176,2307183,2307196,2307107,2307103,2307177,2307110,2307104,2307112,2307038,2307063,2307114,2307061,2307062,2307064,2307102,2317568,2317567,4889904,4891431,4889977,4892041,4889989,4889990,4890036,4891430,4890012,4891397,4891406,4889906,2317272,4891914,4891915,4145112,4891379,4891434,4891452,4891951,4890027,4890025,4891481,4891911,4889880,4889905,4889978,4145452,4891446,4891476,4891879,4890030,4890034,4890004,4890015,4891479,4891880,4891448,4891436,4892021,4889940,4891881,4891884,4890016,4891381,4891912,4891917,4890028,4890013,4892019,4889998,4890014,4891477,4891916,4892112,4889980 6352 NM_002985,AB023652,AB023653,AB023654,AC015849,AF088219,CH471147,DQ017060,AF043341,AF266753,AK312212,BC008600,BG272739,DQ230537,M21121,GQ504011,NG_015990,GN344039 NP_002976,BAA76937,BAA76938,BAA76939,AAC63331,EAW80120,AAY22177,AAC03541,AAF73070,BAG35145,AAH08600,ABB69929,AAA36725,P13501,Q9UBL2,ABM82416,ABM85607,ACW84342,CAY55955 Hs.514821 D17S136E|MGC17164|RANTES|SCYA5|SISd|TCP228 C-C motif chemokine 5|OTTHUMP00000197106|SIS-delta|T-cell specific protein p288|T-cell-specific protein RANTES|beta-chemokine RANTES|eoCP|eosinophil chemotactic cytokine|regulated upon activation, normally T-expressed, and presumably secreted|small inducible cytokine A5 (RANTES)|small inducible cytokine subfamily A (Cys-Cys), member 5|small-inducible cytokine A5|t cell-specific protein P228 protein-coding 1347484 CCL6 chemokine (C-C motif) ligand 6 6353 AK002697 1352377 CCL7 chemokine (C-C motif) ligand 7 This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq] 1580863 20570966,20628624,10770925,7916328,9780207,10201901,19424580,19258923,18660381,18469140,17703412,17364026,17023422,16002730,21072187,12127674,12098517,11781181,11146155,10947989,10734104,10570327,10525044,10477718,10205198,9789057,9405404,9364936,9346360,9109648,8898111,8642344,8580362,8530354,8461011,8318676,7545673,1613466,16169070,15715950,15489334,15381085,15340161,15194816,14733956,14571188,13679391,12847692,12539042,12477932,12149192,15067078,19403065,19423540,19865101,19898927,19937793,20056178,20151806,20237496,20406964,20438785,20503287,21102463 6354 NM_006273,AC005549,CH471147,X72309,AF043338,BC070240,BC092436,BC112258,BC112260,X71087 NP_006264,EAW80210,CAB59723,AAC03538,AAH92436,AAI12259,AAI12261,CAA50405,CAA50406,CAA50407,P80098,Q7Z7Q8,ADR83446 Hs.251526 FIC|MARC|MCP-3|MCP3|MGC138463|MGC138465|NC28|SCYA6|SCYA7 C-C motif chemokine 7|monocyte chemoattractant protein 3|monocyte chemotactic protein 3|small inducible cytokine A7 (monocyte chemotactic protein 3)|small-inducible cytokine A7 protein-coding 1349694 CCL8 chemokine (C-C motif) ligand 8 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq] 1580863 12149192,11087354,11083865,10734104,10477718,9730840,9558113,9405404,9115216,9070881,9005985,8898111,9468473,9119400,10734056,19415413,19258923,19224633,19019335,18835932,18818748,18684849,18660381,18636124,18602166,18256320,17703412,17487826,15644410,15607028,15489334,14647058,13679391,12539042,12477932,8661057,8189067,2518726,1613466,20181935,19423540,19527514,19865101,20056178,20406964,20438785,20503287 6355 NM_005623,AC011193,CH471147,X99886,Y18047,BC126242,Y10802,Y16645 NP_005614,EAW80207,EAW80208,CAA68168,AAI26243,CAA71760,CAA76341,P80075,ADR83451 Hs.271387 HC14|MCP-2|MCP2|SCYA10|SCYA8 C-C motif chemokine 8|OTTHUMP00000163792|monocyte chemoattractant protein 2|monocyte chemotactic protein 2|small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)|small-inducible cytokine A8 protein-coding 1345553 CCL9 chemokine (C-C motif) ligand 9 337988 AF128195 1317623 CCM2 cerebral cavernous malformation 2 2293891,1600689,1580863 16037064,14740320,19318350,19199464,19151728,19088124,19088123,18300272,17657516,17440989,17290187,17160895,16769843,16373645,16239636,15498874,15489334,14702039,14624391,12774951,12690205,12477932,9811928,19151727,19913121,20628086,16344560,18469344,19475721,19688696,19755102,20308363,20379614 2293891,1600689 83605 NM_031443,NM_001029835,AC004847,AC013416,AL832992,CH236960,CH471128,AF370392,AI538498,AK025807,AK098005,AK124060,AK298671,AK303534,BC004903,BC008859,BC016832,BC025958,BC063663,BX641167,CR596053,CR599466,CR600732,CR602233,CR604060,CR607004,CR618287,CR618439,CR618943,CR621631,DA420491,NG_016295,NM_001167934,NM_001167935,NR_030770 NP_113631,NP_001025006,CAH56307,EAL23746,EAW61058,EAW61059,EAW61060,EAW61061,EAW61062,EAW61063,EAW61064,EAW61065,EAW61066,AAQ15228,BAG53562,BAH12842,BAH13982,AAH04903,AAH08859,AAH16832,AAH25958,AAH63663,Q658T9,Q6P456,Q9BSQ5,NP_001161406,NP_001161407 Hs.148272 C7orf22|MGC4067|MGC4607|MGC74868|OSM|PP10187 OTTHUMP00000214270|OTTHUMP00000214271|OTTHUMP00000214273|cerebral cavernous malformations 2 protein|malcavernin protein-coding 1348981 CCM3 cerebral cavernous malformation 3 9811928 9226 1321661 CCNA1 cyclin A1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,2316302,2316304,2289152 11076863,10373534,15232106,17353931,9843212,9041194,11256614,19056339,18692784,18612129,18372919,17530187,17455244,17098733,17047026,16799873,16449996,16381901,16007189,15829981,15489336,15456866,15342377,15159402,12579332,12477932,12121569,11884610,11733001,11381140,11264176,11172814,10926775,10559988,20457893,10196209,10068680,10068472,10022926,9373149,9244350,8565853,8125298,7969176,7478582,15050687,10679238,11584018,12628165,15649124,8463339,20013084,1628647,16774918,16777603,18787932,19668232,19738611,19843677,19886767,20219923,15004027,15138268 2316302,2316304,2289152 8900 NM_001111046,NM_001111047,NM_003914,NM_001111045,AF124143,AL359767,CH471075,AA553454,AK225146,AK301897,AK314261,AK316392,BC035479,BC036346,BG723613,BT019577,CD171793,CR616879,DC395631,DC396283,DC411883,U66838,U97680,HH771162,HH771214 NP_001104516,NP_001104517,NP_003905,NP_001104515,AAD26337,CAI12728,EAX08565,EAX08566,BAH13579,BAG36926,BAH14763,AAH36346,AAV38384,AAB49754,AAB60863,P78396,Q9UNG8,CAL38250,ABM82229,ABM85414,CBX86286,CBX86312 Hs.417050 cyclin-A1 protein-coding 1348754 CCNA2 cyclin A2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. In contrast to cyclin A1, which is present only in germ cells, this cyclin is expressed in all tissues tested. This cyclin binds and activates CDC2 or CDK2 kinases, and thus promotes both cell cycle G1/S and G2/M transitions. [provided by RefSeq] 1580863,2293344,2293347,2293346,2293348 15890360,17254966,1312467,7969176,16109376,19363140,19056339,18829481,18676680,18668132,18667424,18635963,18572908,18490441,18471975,18391017,18368381,17917837,17698606,17636382,17593077,17495531,17445807,17359356,17316413,17255290,17208191,17013808,17001081,16823179,16774918,16708383,16670718,16540140,16407256,16398674,16344560,15815621,15671017,15649889,15601848,15489334,15199159,15187102,14993212,14749377,14747563,14646596,14645522,14579410,12742823,12673206,12601350,12501191,12477932,12444551,12439743,11980909,11907280,11896577,11884610,11698641,11310559,11238922,10924145,10884347,10871850,10864927,10679238,10673397,10581175,10540350,10525536,10373534,9889196,9858587,9820826,9660973,9632134,9566895,9244350,9199321,9020058,8756328,8684460,8662825,8626584,8502485,8253383,8230483,8202514,8024548,7630397,1967822,1962755,1830372,1675006,1532458,1387877,15050687,17679094,12947099,12853968,15355997,10559858,11931757,14695896,15649124,16009130,10766737,15469821,8475101,15652749,8423786,15782160,15674323,15558010,15306814,16123593,15800651,18246796,19170196,19176011,19483727,19596857,19614764,19615732,19625176,19671680,19684852,19692168,19703905,19738611,19822658,19858290,19864233,19901524,20133761,20193482,20453000,8798463,9054499,20126974,20733051,20800603 2293344,2293347,2293346,2293348 890 NM_001237,AC079341,AF518006,CH471056,X68303,AK291931,AW276578,BC104783,BC104787,CR407692,CR592551,CR597266,CR604810,CR619143,DA748568,X51688 NP_001228,AAY40969,AAM54042,EAX05246,CAA48375,BAF84620,AAI04784,AAI04788,CAG28620,CAA35986,P20248 Hs.58974 CCN1|CCNA cyclin-A|cyclin-A2 protein-coding 733179 CCNB1 cyclin B1 The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). Two alternative transcripts have been found, a constitutively expressed transcript and a cell cycle-regulated transcript, that is expressed predominantly during G2/M phase. The different transcripts result from the use of alternate transcription initiation sites. [provided by RefSeq] 2296040,2315934,2315936,2315937,2289230,2315935,2293596,2315938,2315939,2315940,2315046,2315941,1358139,1580863,2316310,2315990,2315991,2314685,2315994 11278247,16407259,17327911,17389604,19505905,19608149,19609944,19614764,19666607,19724852,19738611,19763267,19968870,20095356,20097574,20103625,20171170,20360007,20368335,20404109,20412769,20453000,20508983,7769006,9247342,8756624,9001210,10373560,11285280,10793135,1717476,10395539,1384126,1828290,7799941,11598127,12791267,16109376,19470724,19369249,19293801,19028417,18820706,18799590,18692784,18671143,18593994,18491248,18414058,18408012,18372919,18353325,18337751,18281511,18195732,18048386,17881737,17668170,17655707,17598982,17533373,17513602,17495533,17495531,17472438,17466630,17445807,17408621,17388661,17386261,17373649,17359356,17359284,17242210,17242184,17167975,12738867,12684677,12612082,12586340,12515609,12483522,12477932,12468530,12447691,12424202,12397081,12379461,12200597,12124778,12115375,12110603,12068134,12054478,12009577,11960377,11878934,11809526,11779217,11732576,11691994,11642719,11572993,11531413,11444800,11310559,11260656,11242082,10958988,10921877,10864927,10716937,10581175,10421840,9926943,9813064,9679058,9560267,9520381,9499405,9244350,9094673,8662825,8402895,8101826,7876309,7843284,7737117,7666531,7494303,7474100,7474080,2570636,1836978,1387877,1386342,8524869,16751065,15265780,17679094,10973963,9891079,10362260,15989971,15916961,15654331,8475101,9515786,11331587,8070405,8463339,11559705,19855194,20334896,16880739,16784539,16614707,16557593,16478538,16322753,16273239,16237118,16221667,16142332,16009132,15931389,15790566,15767402,15710382,17098733,15635413,15541388,15489334,15215233,15181148,15016823,14760118,14645578,12865421,12839990,12775724,20526282,16479161,16799550,20808790,15256223,16474839,18591933,20937773,20733055,20661218 2296040,2315934,2315936,2315937,2289230,2315935,2293596,2315938,2315939,2315940,2315046,2315941,2316310,2315990,2315991,2314685,2315994 891 NM_031966,AC010273,AC022107,AY338491,CH471137,S74452,U22364,AI972071,AK289431,AY027761,AY027762,AY027763,AY027764,AY027765,AY027767,AY027768,AY027769,AY027770,BC006510,BT020128,CR590390,CR591844,CR602024,CR602926,CR605788,CR608657,CR612103,CR613568,CR613907,CR619355,CR622796,M25753,CR591674,HH771226 NP_114172,AAP88038,EAW51306,AAD14154,AAD14818,BAF82120,AAK27417,AAK27418,AAK27419,AAK27420,AAK27421,AAK27422,AAK27423,AAK27424,AAK27425,AAH06510,AAV38930,P14635,Q5TZP9,Q9BPX9,Q9BWU7,Q9BWU8,Q9BWU9,Q9BWV0,ABM83901,CBX86318 Hs.23960 CCNB G2/mitotic-specific cyclin B1|G2/mitotic-specific cyclin-B1|OTTHUMP00000221981|OTTHUMP00000223023 protein-coding 1342952 CCNB1IP1 cyclin B1 interacting protein 1 HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM] 1580863 16712791,12612082,16532029,16381901,16344560,16189514,15489336,15489334,14702039,12477932,11230166,11076863,9373149,8889549,8125298 57820 NM_021178,NM_182849,NM_182852,NM_182851,AL355075,AL356019,CH471078,CS072465,AA101731,AF216381,AK026233,AK225253,AK225451,AK226037,AK309183,AL161994,BC000369,BC001218,BC004435,BI771433,BI917081,BM741413,BX161423,BX161424,BX247978,BX334446,CB113193,CR591184,CR593880,CR596432,CR601801,CR603010,CR605480,CR611584,CR612618,CR621988,CR624788,DB029392 NP_067001,NP_878269,NP_878272,NP_878271,EAW66479,CAI93603,AAF36386,BAB15403,CAB82326,AAH00369,AAH01218,AAH04435,CAD61896,CAD61897,CAD62312,Q9NPC3,CAL37971,CAL38527 Hs.107003 C14orf18|HEI10 E3 ubiquitin-protein ligase CCNB1IP1|OTTHUMP00000163984|OTTHUMP00000163986|cyclin-B1-interacting protein 1|enhancer of invasion 10|human enhancer of invasion 10 protein-coding 3398802 CCNB1IP1P1 cyclin B1 interacting protein 1 pseudogene 1 728887 AL136380,NG_016546 pseudo 3476342 CCNB1IP1P3 cyclin B1 interacting protein 1 pseudogene 3 100128456 AL662819,NG_016614 pseudo 1317801 CCNB2 cyclin B2 Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq] 1580863 15232106,1717476,11256614,19223528,18692784,17549666,17533373,10921877,9926943,9560267,9539739,9520381,9373149,9094673,8125298,8070405,7737117,7666531,7494303,7474100,7474080,19738611,15489336,15489334,14718574,14702039,12727876,12482752,12477932,12110603,11960377,11878934,11531413,11230166,11076863,17289878,16381901,17388661,10958988 9133 NM_004701,AC092757,AY864066,CH471082,AB020981,AF002822,AF087910,AK001404,AK222611,AL080146,BC105086,BC105112,BT019458,CR533527,CR600767,CR606395,CR607796,CR608686,CR608927,CR624496,HH771252 NP_004692,AAW34361,EAW77563,BAA78387,AAD09309,AAP97207,BAG50905,BAD96331,CAB45739,AAI05087,AAI05113,AAV38265,CAG38558,O95067,Q53HG9,Q5U0M0,Q7Z4Z4,CAL38454,CBX86331 Hs.194698 HsT17299 G2/mitotic-specific cyclin-B2 protein-coding 1352366 CCNB3 cyclin B3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chick and Drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and be required for proper spindle reorganization and restoration of the interphase nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,15790807,12185076,12110603,11878934,11846420,11531413,10958988,10921877,9560267,9520381,9094673,8313904,7666531,7494303,7474100,7474080 85417 AJ421672,AJ421673,AJ421674,AK292454,AL137550,AY927611,NM_033670,AL591367,NM_033031,BX323840,CH471180,AJ314764,AJ314765,AJ314766,AJ416458,NG_012880 CAC94915,CAD18845,CAD18846,CAD18847,BAF85143,CAB70806,Q8WTR6,Q8WWL7,AAI72237,AAI72544,NP_149020,NP_391990,CAI41320,CAI41321,CAI43220,CAI43221,EAW89920,EAW89921,EAW89922,EAW89923,CAC40024,CAC40025,CAC40026 Hs.130310,Hs.722420,Hs.722421 G2/mitotic-specific cyclin-B3|OTTHUMP00000023292|OTTHUMP00000023293 protein-coding 736281 CCNC cyclin C The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq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s.430646,Hs.633351 CycC SRB11 homolog|cyclin-C|hSRB11 protein-coding 68556 CCND1 cyclin D1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq] 704385,1581171,704409,2289126,2289128,2289133,2289283,2289336,2289127,2289129,2289130,2289132,1625408,2289139,2289144,2289145,2289147,2289131,2289134,2289337,2296034,2296032,2293574,2296036,2296033,2296037,704405,1358139,1580863,704404,704417 20701069,15557752,19636701,19412162,8114739,18483258,9106657,11256614,9190208,16782892,19634112,19602458,19573080,19558863,19554511,19536092,19525979,19499154,19489683,19470724,19453261,19440933,19375306,19373442,19336552,19330026,19321861,19303206,19302219,19289374,19287456,19258477,19242061,19237565,19203829,19183483,19166930,19152247,19147768,19143767,19142864,19139013,19136653,19129688,19124506,19116388,19106744,19106611,19096232,19091404,19086036,19084934,19074885,19074853,19071090,19070887,19064572,19055446,19047108,19040567,19034659,19020753,19009649,18991334,18988190,18983468,18950845,18949380,18942709,18942117,18936968,18925698,18844221,18843022,18842998,18829570,18823025,18822177,18819000,18798551,18794151,18794045,18787961,18769147,18758380,18753363,18715870,18715616,18713830,18710949,18710938,18703151,18695676,18695042,18677114,18676680,18665077,18665038,18650423,18644870,18640142,18632615,18625744,18618300,18616527,18609126,18604165,18598945,18562319,18548202,18547262,18514338,18507837,18491248,18484097,18483394,18467434,18459109,18456656,18437417,18431519,18413827,18413773,18413728,18413612,18406353,18404250,18398822,18393977,18381935,18379871,18373498,18367547,18361427,18358634,18355918,18355450,18349392,18349267,18347178,18343791,18341653,18327303,18327210,18306932,18301453,18284543,18281541,18251939,18240019,18239461,18237245,18226366,18212742,18205772,18197291,18196581,18194538,18194492,18187454,18182398,18180298,18174243,18079202,18067636,18063576,18061526,18056951,18047954,18043898,18027856,18019405,18006821,18006686,17960397,17941827,17935714,17934069,16912209,16884382,16870553,16865250,16860316,16843438,16832876,16829689,16820873,16815198,16804724,16788380,16783567,16776827,16732330,16723714,16705174,16699726,16691626,16691558,16690963,16672066,16645724,16644723,16638786,16616093,16614728,16614707,16601140,16569215,16568089,16552496,16547504,16508013,16507767,16495921,16490596,16488657,16461912,16407831,16406195,16399423,16381901,16343742,16341674,16334487,16328437,16322291,16273238,16258756,16258726,16226824,16207592,16174239,16172916,16166625,16163738,16163549,16155412,16142313,16131791,16123218,16115225,16051426,15981100,15971196,15951563,15951302,15949570,15943036,15923181,15914210,15900590,15896460,15878868,15870300,15863141,15862753,15861516,15856299,15845652,15824172,15811121,15809880,15791567,15776189,15755896,15754315,15735724,15734847,15709184,15695117,15684604,15668481,15655836,15621754,15580291,15578074,15558026,17923265,17922974,17916995,17912028,17908995,17906980,17901853,17882269,17881732,17868090,17855508,17848143,17804732,17724472,17720094,17698033,17695500,17693985,17684142,17653856,17629555,17616699,17616526,17607588,17606765,17606477,17605237,17600882,17561354,17556661,17549378,17525627,17524364,17517369,17509221,17499716,17486065,17482347,17447856,17438373,17427198,17420273,17409409,17398034,17393422,17344214,17334399,17316413,17310991,17308274,17299095,17284370,17278098,17274640,17254966,17240151,17207971,17203214,17203162,17198740,17188136,17139501,17116943,17106256,17090192,17081987,17070615,17060721,17046823,17022831,17011980,16980615,16959222,16942622,16940298,16924241,16916940,15695403,20137349,20822933,20844743,21036743,8756624,20429623,19806481,20304954,20578819,20631637,20631638,20727381,11793365,18799029,20067552,20392877,20683026,20683061,18839518,20616110,20699365,20801098,17927591,12914697,12899785,12896908,12894561,12883749,12883688,12825853,12824903,12808109,12807740,12778072,12761882,12759391,12746453,12743597,12738746,12707028,12694349,12692418,12680219,12673692,12634633,12607604,12606305,12601350,12594215,12589056,12582032,12569141,12557224,12554669,12539042,12515730,12480939,12477932,12455063,12444551,12439750,12394763,12391146,12388769,12379776,12376514,12364325,12237776,12231535,12209953,12203362,12164325,12151312,12150453,12138206,12127555,12101670,12097293,12096344,12067972,12048199,12036951,12036934,12036906,12036888,12024041,12007188,12006580,12002755,11992406,11986316,11958128,11948404,11935308,11923474,11902820,11896626,11884610,11872630,11870667,11838966,11836555,11815623,11813305,11788592,11751903,11739795,11739785,11698641,11698342,11696452,11642719,11470749,11311237,11279133,11126356,11076863,11073968,11042687,10910956,10908655,10850422,10801854,10645009,10581175,10500095,10371345,10353443,10344732,10318892,9926939,9837900,9832503,9832502,9661876,9626345,9426067,9380698,9244350,9150368,9050835,9039267,8887674,8826947,8657154,8643455,8490963,8302605,8204893,8159685,8134134,8101826,8058751,8058338,7908906,7739547,7733934,7687458,7665234,7568034,7478582,6610211,1833629,1833066,1827756,1826542,1682919,1535701,1532244,1386335,16436505,12241561,11360184,10580009,9228064,8259215,12529437,16357142,10764802,15897899,8999999,15950906,15893730,15808510,12867429,11805292,9632134,15592430,8662825,15688030,15652748,15172998,15557280,15551329,15545188,15544931,15539430,15538282,15513923,15505422,15498584,15489336,15489334,15378006,15377668,15375804,15355984,15350626,15297421,15282324,15245939,15239347,15232106,15226187,15225161,15203873,15153436,15138714,15133490,15128059,15090460,15063389,15060836,15059606,14981950,14966901,14767060,14764597,14759115,14754892,14720512,14703063,14701845,14689059,14688016,14679024,14666699,14666673,14666635,14657069,14646596,14645576,14645506,14641107,14612904,14530270,12972956,12965081,12955092,12937137,12930597,12921950,12917338,12917336,19967453,21056029,16758952,20459741,20512928,20540739,11860939,16287839,16600870,17018901,17067457,17080657,17129455,17205132,17208333,17517622,17626745,17927853,18024283,18291362,19075005,19170196,19187116,19324500,19386349,19415719,19430707,19443866,19448414,19467018,19474518,19477949,19502783,19505905,19538740,19549773,19550124,19564413,19572978,19575018,19578796,19585495,19589865,19625176,19633425,19638577,19666944,19670700,19679881,19687314,19690970,19692168,19706803,19723065,19724860,19728335,19738611,19750108,19757306,19760977,19773279,19774638,19779113,19780858,19787783,19789190,19795398,19800042,19801633,19801969,19802676,19821490,19822419,19823025,19823825,19826048,19850937,19883431,19885547,19898427,19900369,19903334,19904758,19915615,19917254,19919588,19921577,19923826,19933579,19935879,19940156,19941161,19956635,19956831,20028857,20062011,20072652,20087644,20101207,20103831,20113529,20154722,20160059,20172376,20179208,20181625,20204303,20204402,20231315,20232305,20306448,20338923,20347627,20380574,20389301,20397048,20404095,20418097,20437058,20443083,20453000,20460515,20473525,18171527,20485284,19915977,20951943,20466633,20628002,15277517,20372799,20564361,20618968,20714998,20586028,20453838,19134409,20515940,20575692,20581865,20631636,20644561,20662834,20680537,20426528 704385,1581171,704409,2289126,2289128,2289133,2289283,2289336,2289127,2289129,2289130,2289132,1625408,2289139,2289144,2289145,2289147,2289131,2289134,2289337,2296034,2296032,2293574,2296036,2296033,2296037,704417 595 X59798,M74092,NM_053056,NG_007375,AF511593,AP001824,AP001888,CH471076,L09054,Z29078,AB075505,AK299044,AK313136,AY830112,BC000076,BC001501,BC014078,BC023620,BC025302,BM796500,BT019844,BT019845,CR536538,CR542099,CR602163,CR605397,CR624763,M64349,M73554 CAA42470,P24385,Q14092,Q5MGB2,Q6FI00,Q9H014,CAL38071,CAL38308,CAL38470,ABM82774,ABM85964,NP_444284,AAM34300,EAW74746,EAW74747,EAW74748,AAA36481,CAA82318,BAG61118,BAG35955,AAV91344,AAH00076,AAH01501,AAH14078,AAH23620,AAH25302,AAV38647,AAV38648,CAG38775,CAG46896,AAA52136,AAA58392 Hs.523852 BCL1|D11S287E|PRAD1|U21B31 B-cell CLL/lymphoma 1|B-cell lymphoma 1 protein|BCL-1 oncogene|G1/S-specific cyclin D1|G1/S-specific cyclin-D1|PRAD1 oncogene protein-coding 730903 CCND2 cyclin D2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. [provided by RefSeq] 1581171,1580863,2289152,2289159,2289160,2289180,2289181,2289149,2289150,2289151,2289153,2289156,2289157,2289154,2289155,2289158,2296039,2296041,2296038 16182291,16287839,16765349,19107115,19464003,19608671,19618401,19679881,19738611,19890848,20066902,20414251,9003781,8945475,8887674,8621559,8455931,8343202,8125298,7739547,1386336,1386335,11360184,11311237,16357142,15735688,15531890,11291051,18504428,21048031,20628624,20677014,19252133,19124506,18950845,18930031,18827403,18714005,18635970,18507837,18483325,18431519,18391076,18281541,18174243,17882269,17873913,17486076,17409409,17016690,16548914,16189514,15797629,15755896,15613482,15509806,15489334,15245432,15169570,15065884,14641107,14612939,14601057,14581343,12777997,12771922,12477932,12112307,11992406,11839508,11726322,11469683,11358847,11301189,11289162,11285977,11254678,11209538,11042687,10508165,10398124,9858559,9422379,9373149,11896535,8114739,19641124,19577536,19258477,19508551,20939487,20139978 1581171,2289152,2289159,2289160,2289180,2289181,2289149,2289150,2289151,2289153,2289156,2289157,2289154,2289155,2289158,2296039,2296041,2296038 894 NM_001759,AC006122,AF518005,CH471116,M88080,M88081,M88082,M88083,AI055922,AK223577,AK291146,BC010958,BC014357,BC089384,BT019847,BX476896,BX647508,CR600898,D13639,M90813,X68452 NP_001750,AAM54041,EAW88851,AAA51928,BAD97297,BAF83835,AAH10958,AAH89384,AAV38650,BAA02802,AAA51926,CAA48493,P30279,Q53ER2,ABM83771,ABM87090 Hs.376071 KIAK0002|MGC102758 G1/S-specific cyclin D2|G1/S-specific cyclin-D2 protein-coding 1347204 CCND2P cyclin D2 pseudogene 1386336,1386335 895 NG_001092,AP001880,M91003 pseudo 736176 CCND3 cyclin D3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1581171,2316011,2316013,2316015,2316016,2316018,2316020,2316019,2316005,2316007,2316012,2316009 1386336,1386335,1383201,15050687,11311237,16357142,17972097,16169070,1387066,12647795,12611887,12482873,12477932,12130539,12082095,12036888,12011445,11895902,11864973,11726322,11469683,11375949,11360184,11301189,11042687,10891505,10398124,10342870,10318807,9858559,9713342,8887674,8668211,8621559,8490963,7908906,20631637,11896535,15232106,17274640,17517622,8114739,19258477,19237555,19204726,19142864,19124506,18701138,18676680,18660489,18570922,18507837,18391076,18358634,18281541,18174243,18084330,18019405,17885491,17882269,17698582,17467662,17413032,17409409,17300668,16920920,16916940,16884382,16815849,16569260,16360641,16344560,16322284,16303160,16300731,16287839,16189514,16105657,15755896,15671552,15569667,15489334,15358120,15327989,15326477,15305377,15252116,14747476,14702039,14666699,14645576,14641107,14576819,14574404,12890807,12778072,16600870,19170196,19473963,19625176,19639271,19692168,19706544,19738611,19820697,19853236,19862010,20097574,20107311,20113529,20453000,20139978,20465575,20821231,21048031,9106657 1581171,2316011,2316013,2316015,2316016,2316018,2316020,2316019,2316005,2316007,2316012,2316009 896 NM_001136017,NM_001136125,NM_001136126,AF517525,AL160163,CH471081,M88085,M88086,M88087,U47285,AB209825,AK055519,AK057206,AK096276,NM_001760,AK097856,AK303452,AK315421,BC011616,CR542246,CR598035,CR598524,CR600566,CR605119,CR606656,CR613159,CR613463,CR620389,CR620441,CR624358,CR626223,DA069566,DB001987,DC360231,M90814,M92287,AK299187,AL513008 NP_001751,NP_001129489,NP_001129597,NP_001129598,AAM51826,CAI23490,CAI23491,EAX04070,EAX04071,EAX04072,EAX04073,EAX04074,EAX04075,EAX04076,AAA51929,BAD93062,BAG51531,BAG51884,BAG53245,BAG64497,BAG37810,AAH11616,CAG47042,AAA51927,AAA52137,P30281,Q59EI6,Q5T8J1,ABM82674,ABM86056,BAG61231 Hs.534307 D3-type cyclin|G1/S-specific cyclin D3|G1/S-specific cyclin-D3|OTTHUMP00000223407|OTTHUMP00000223413|OTTHUMP00000223414|OTTHUMP00000223415 protein-coding 1350463 CCND3P cyclin D3 pseudogene 1386336,1386335 897 AL161651,NG_001093,M90815 pseudo 1312246 CCNDBP1 cyclin D-type binding-protein 1 This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq] 1580863 10915743,15887118,12437976,19153449,18983464,18923419,17621266,17532760,16501603,16344560,16303743,16189514,12477932,12434312,10915734,10854051,10801854,9373149,8125298,16169070,17324930,20460530 23582 AK295017,AK308817,AL552334,BC009689,CB104739,CR450331,CR590244,CR591004,CR591024,CR593640,CR597699,CR598585,CR603048,CR604971,CR605918,CR607520,CR607951,CR609296,CR614852,CR616591,CR617044,CR619163,CR620088,CR622678,CR623091,CR623865,CR623887,DA210890,DA734945,NM_037370,NR_027513,NR_027514,AC068724,CH471125,CS131150,AF082569,AF087852,AF113535,AF132034,AF246144,AK075146,AK075296,AK124193,AK128849,AK225143,AK225645,AK290665,AK290707,NM_012142 BAG58076,AAH09689,CAG29327,O95273,ABM85050,NP_036274,NP_411241,EAW92588,EAW92589,EAW92590,CAJ21094,AAD11777,AAP97163,AAF14872,AAF77613,AAF67182,BAC11433,BAC11530,BAG54020,BAC87645,BAF83354,BAF83396 Hs.36794 DIP1|GCIP D-type cyclin-interacting protein 1|HHM Protein|MAID protein|cyclin-D1-binding protein 1|grap2 and cyclin-D-interacting protein|grap2 cyclin interacting protein|human homolog of Maid protein-coding 736488 CCNE1 cyclin E1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. [provided by RefSeq] 2289228,2289266,2289273,2289336,2289225,2289229,2289230,2289231,2289255,2289267,2289268,2289277,2289281,2289283,2289287,2289293,2289296,2289337,2289265,2289335,2296041,2296035,2296042,2293574,1358139,1580863 15800651,16109376,16191374,16223725,17192413,17254966,17434132,18029348,18344087,18651214,19423708,19454496,19505905,19561641,19569046,19574535,19585504,19603101,19670700,19713765,19724860,19738611,19787784,19801544,19860623,19925052,20001501,20107311,20171175,20385564,20453000,20508983,15800668,15709169,15708847,15665273,15660127,15611651,15557791,15489334,15467469,15197178,15191351,15178429,15060836,15007381,14965268,14719078,14645251,14612403,14536078,12824885,12778072,12777997,12729791,12647795,12607005,12601350,12553912,12533700,12477932,12444551,12133429,12114499,12101670,12096344,12096339,11919196,11884622,11877298,11838966,11733001,11565033,11533444,11259605,11237742,11221854,11175348,10995387,10995386,10953010,10908655,10851086,10827081,10751146,10581175,10500095,10499591,9840943,9819444,9731206,9525916,9472014,9223324,9192874,9153308,9012818,8861947,8833152,8756624,8649818,8618861,8617791,8253383,8230483,7739542,7698009,1833068,1833066,1388288,1388095,9453249,16289656,15343382,17646408,15004009,12839982,12529437,17525332,11085541,12628165,15469821,14739463,9632134,20453888,17822621,20336784,20102401,20530684,20530685,16124066,8662825,15572661,9891079,8207080,7799941,11907280,7629134,10454565,19617534,19587092,19470724,19321444,19305161,19258477,19179977,19124506,19107593,19064572,19058005,19010853,18959818,18799789,18799628,18607847,18507837,18381935,18301453,18281541,18276582,18208561,18174243,18047954,17726548,17664332,17409409,17360482,17325036,17218276,16912169,16823179,16799991,16761619,16740753,16627785,16609025,16582606,16538501,16504183,16391523,16344560,16322693,14999283,15004027,20465575,19615252,20837705,16818231,15980150,20972438,21048031 2289228,2289266,2289273,2289336,2289225,2289229,2289230,2289231,2289255,2289267,2289268,2289277,2289281,2289283,2289287,2289293,2289296,2289337,2289265,2289335,2296041,2296035,2296042,2293574 898 NM_001238,NM_057182,AC008798,AF518727,L48996,U40787,U40788,X95406,AK291549,AU137789,BC035498,BE645164,CR591189,CR593053,CR601172,M73812,M74093 NP_001229,NP_476530,AAM54043,AAA83269,CAA64687,CAA64688,BAF84238,AAH35498,P24864,ABM84309,ABM87702 Hs.244723 CCNE G1/S-specific cyclin-E1|cyclin Es|cyclin Et|cyclin e protein-coding 1317175 CCNE2 cyclin E2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq] 1580863 15232106,9858585,7799941,11907280,7629134,10454565,19107233,19084516,16740753,16620772,17254966,19564413,19603101,19638577,19738611,12466974,9840927,8889549,9840943,12477932 9134 NM_057749,AC087752,AP003692,AY850195,CH471060,AA830205,AF091433,AF102778,AF106690,AF112857,BC007015,BC020729,BG720611 AAH07015,NP_477097,AAV97813,EAW91727,EAW91728,EAW91729,EAW91730,EAW91731,EAW91732,AAC80528,AAC78145,AAD08816,AAD08819,AAH20729,O96020,Q8WUE3,ABM84420,ABM87365 Hs.521693 CYCE2 G1/S-specific cyclin E2|G1/S-specific cyclin-E2 protein-coding 736837 CCNF cyclin F This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. 634645,1580863 20596027,8706131,16344560,15489334,12477932,12122006,10716937,7896286,7813445,7626882 634645 899 NM_001761,AC106820,CH471112,AB208829,AK313371,BC012349,DA960397,DB523776,U17105,Z36714 NP_001752,EAW85510,BAD92066,BAG36170,AAH12349,AAB60342,CAA85308,P41002,Q59HD0,ABM81701 Hs.1973 FBX1|FBXO1 F-box only protein 1|G2/mitotic-specific cyclin-F|cyclin-F protein-coding 735830 CCNG1 cyclin G1 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 634709,1580863,2316022,2316023,2316025,2316027 8626390,18981217,18632610,18408012,17868090,17616664,16322753,15489334,15077171,12684677,12634633,12556559,12477932,12214116,11956189,10196184,10194136,9013862,8954786,8887688,8806701,19584283,19738611 634709,2316022,2316023,2316025,2316027 900 NM_004060,NM_199246,AC112205,AY791292,CH471062,D86077,AK297190,AK312913,AK316234,BC000196,BC007093,BM479568,BT007134,BX538035,BX644635,CR619041,D78341,L49504,U47413,U53328,X77794 NP_004051,NP_954854,AAV40836,EAW61528,EAW61529,EAW61530,BAA13007,BAG59679,BAG35759,BAH14605,AAH00196,AAH07093,AAP35798,CAD97979,BAA11353,AAC41977,AAC50688,AAB03903,CAA54821,P51959,Q7Z396,ABM84691,ABW03627 Hs.79101 CCNG OTTHUMP00000223690|OTTHUMP00000223691|OTTHUMP00000223692|OTTHUMP00000223693|OTTHUMP00000223697|cyclin-G|cyclin-G1 protein-coding 4888880 CCNG1P1 cyclin G1 pseudogene 1 100130820 AL032821,NG_022372 pseudo 1312769 CCNG2 cyclin G2 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq] 1580863 8626390,18784254,18754885,18025271,17123511,16608856,16364039,12477932,12452053,11956189,8806701,14702039,19559447,19738611,20677014 901 CR542200,CR593444,DC344594,L49506,U47414,NM_004354,AC104771,AF549495,CH471057,AK292029,AK293899,BC032518,BT019503,CA429362,CR542181,AK054785,AK092638,AL080193,CR598707 CAG46997,AAC41978,AAC50689,Q16589,Q6FGA7,Q6FGC6,Q8N5D4,ABM81762,ABM84917,CAG46978,NP_004345,AAN40704,EAX05812,EAX05813,EAX05814,BAF84718,BAG57286,AAH32518,AAV38310 Hs.724499 OTTHUMP00000160592|OTTHUMP00000219366|OTTHUMP00000219367|cyclin-G2 protein-coding 69470 CCNH cyclin H The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. [provided by RefSeq] 1580863 17353931,9405375,10583946,8692841,8946909,8692842,1939271,2449431,7629134,7799941,9512541,9582279,9790902,10214908,11313499,12393749,12646563,16782892,7936635,19116388,18854777,18708406,18676680,18614043,18400256,17728339,17707548,17684142,17628022,17575242,17081983,16935935,16492920,16189514,15695176,15489334,15328539,15220921,14702039,14569024,12527756,12477932,12379213,12140753,12049628,11239393,11113176,11062157,11056214,10993082,10973491,10866664,10734072,10639311,10438593,10082552,10066804,10024882,9840937,9765201,9651670,9570510,9465303,9464540,9334327,9311822,9243502,9184228,9130708,9121429,9118957,9118947,9056480,9054383,8934526,8849451,8836101,8628270,8617234,8521818,8302582,8078587,8069918,8001136,7533895,11062469,10958691,17643375,18508765,18950027,19074885,19170196,19270000,19536092,19625176,19692168,19789190,20522537,8521393,9852112,15342556,16344560,8889548 902 NM_001239,AC018754,AF477979,CH471084,AB209342,AK094534,AK291720,BC005280,BC016705,BC016823,BC022351,BF510957,BG718714,BX537673,CR407658,U11791,U12685,AI761780,BP244381,CB240639,DA079651,NM_001199189 NP_001230,AAL74271,EAW95934,EAW95935,BAD92579,BAF84409,AAH05280,AAH16705,AAH16823,AAH22351,CAG28586,AAA21361,AAA57006,P51946,Q59FW7,ABM83476,ABM86687,NP_001186118 Hs.292524 CAK|p34|p37 CAK complex subunit|CDK-activating kinase complex subunit|MO15-associated protein|OTTHUMP00000222395|OTTHUMP00000222396|cyclin-H|cyclin-dependent kinase-activating kinase complex subunit protein-coding 1319424 CCNI cyclin I The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. The function of this cyclin has not yet been determined. [provided by RefSeq] 1580863 9705831,17507299,15489334,12477932,9373149,8125298,7493655 10983 AK301111,NM_006835,AC104771,AC111196,AY207372,CH471057,AB209766,AF135162,AK222931,AK312632,BC000420,BC004975,BT020019,CR541783,D50310 BAH13410,NP_006826,AAO13492,EAX05808,EAX05809,EAX05810,BAD93003,AAF43786,BAD96651,BAG35517,AAH00420,AAH04975,AAV38822,CAG46582,BAA08849,Q14094,Q53GK0,Q59EP5,Q6FHH0,ABM82786,ABM85975 Hs.518827 CYC1|CYI OTTHUMP00000219203|cyclin ITI|cyclin-I protein-coding 2290194 CCNI2 cyclin I family, member 2 12477932 645121 NM_001039780,AC004775,AK131553,BC132837,BC136836,BC144416,BC144417 NP_001034869,BAD18687,AAI32838,AAI36837,AAI44417,AAI44418,Q6ZMN8 Hs.714496 FLJ16793 cyclin-I2 protein-coding 1314992 CCNJ cyclin J 737633,1580863 16341674,14702039,12477932,17207965 737633 54619 NM_001134375,NM_019084,NM_001134376,AL356155,CH471066,AK001757,AK025932,AK092360,AK297264,AK303018,BC043175,BM789816,CR607594 BAH13880,NP_001127847,NP_061957,NP_001127848,CAI16401,EAW49984,BAA91887,BAG52537,BAH12533,AAH43175,Q5T5M9,ADQ32987 Hs.596479 bA690P14.1 cyclin-J protein-coding 1606241 CCNJL cyclin J-like 12477932,14702039 79616 NM_024565,AC112191,CH471062,AK024228,AK131381,AK294000,AK302823,BC013353,BC035871 NP_078841,EAW61562,BAB14856,BAD18532,BAG57362,BAG64020,AAH13353,AAH35871,Q8IV13 Hs.14070 FLJ14166 cyclin-J-like protein protein-coding 1353870 CCNJP cyclin J pseudogene 414303,100128459 AC006970,NG_017085 CCNJP pseudo 3516297 CCNJP2 cyclin J pseudogene 2 100418724 AC104332,NG_022793 pseudo 1317544 CCNK cyclin K The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq] 1580863 16713569,9632813,17169370,17081983,15489334,15302935,12477932,11988847,11884399,10574912,16189514,20459741 8812 NM_001099402,AF270832,AF542236,AL110504,CH471061,AK311075,BC015935,BG503760,BM505592,BQ432222,BT006950,BX247958,AB209373 NP_001092872,AAF82290,AAN06829,EAW81668,EAW81669,EAW81670,EAW81671,EAW81672,AAH15935,AAP35596,CAD62298,O75909,BAD92610,ABM84464,ABW03286 Hs.510409 CPR4|MGC9113 cyclin-K protein-coding 733406 CCNL1 cyclin L1 1580863 20721974,18216018,17494991,16598186,15700036,15489334,15302935,14702039,12975309,12477932,12414649,11980906,11683997,11042152,14623875,20372150 57018 AF208843,NM_020307,AC104411,CH471052,AF180920,AF367476,AF367477,AK022974,AK098021,AK122738,AY034790,AY358663,BC007081,BC038394,BC067812,BX641146,BX647554,HI179062 NP_064703,EAW78712,EAW78713,EAW78714,AAD53184,AAF64257,AAM21204,AAM21205,BAG51145,AAK61551,AAQ89026,AAH07081,AAH38394,AAH67812,Q9UK58,CBX53839 Hs.4859 ANIA6A|BM-001|PRO1073|ania-6a OTTHUMP00000213319|cyclin L ania-6a|cyclin L gamma|cyclin-L|cyclin-L1 protein-coding 1319329 CCNL2 cyclin L2 1580863 18216018,17494991,17081983,16710414,15489334,14702039,14684736,14623875,12477932,9373149,8838426,8125298,16344560 81669 NM_030937,NM_001039577,AC026283,AL139287,AL391244,AX880620,CH471183,CR628411,AF087903,AF251294,AK000685,AK026796,AK027770,AK056120,AK057133,AK074112,AK225758,AK292268,AK293451,AL834432,AL834441,AY037150,AY116620,BC016333,BC071622,BM153748,CR599231,DA360436 NP_112199,NP_001034666,CAI22659,CAI22660,CAE91020,EAW56211,EAW56212,EAW56213,EAW56214,EAW56215,EAW56216,EAW56217,CAM12829,AAP97201,AAG44594,BAG51376,BAG51870,BAB84938,BAF84957,BAG56949,CAD39092,CAD39101,AAK67631,AAM76789,AAH16333,AAH71622,Q96S94,Q9H2N7 Hs.515704 ANIA-6B|CCNM|DKFZp761A1210|DKFZp762O195|HCLA-ISO|HLA-ISO|PCEE|SB138 OTTHUMP00000221204|OTTHUMP00000221205|OTTHUMP00000221207|cyclin M|cyclin-L2|paneth cell-enhanced expression protein protein-coding 1352503 CCNM cyclin M 9613 1346890 CCNO cyclin O 1580863 10583946,12161446,15489334,15372022,14702039,12477932,8419333,2001396,12171929,10393198,11081631,20870715 10309 NM_021147,AC026704,AC091977,CH471123,M87499,AK026075,BC004877,BC017345,BC056254,BX096363,X52486,BC143905 NP_066970,EAW54912,EAW54913,AAB05817,BAB15351,AAH04877,CAA36728,P22674,AAI60041 Hs.3041 CCNU|FLJ22422|UDG2|UNG2 cyclin U|cyclin domain containing|cyclin-O|cyclin-like uracil-DNA glycosylase|uracil-DNA glycosylase 2 protein-coding 1322457 CCNT1 cyclin T1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin tightly associates with CDK9 kinase, and was found to be a major subunit of the transcription elongation factor p-TEFb. The kinase complex containing this cyclin and the elongation factor can interact with, and act as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and was shown to be both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner were also found to be involved in the phosphorylation and regulation of the carboxy-terminal domain (CTD) of the largest RNA polymerase II subunit. [provided by RefSeq] 1580863 19956800,16980611,16916647,16838299,16764723,16615932,16439541,16362050,16308568,15994294,15940264,15913611,15713661,15563843,15528190,15107825,15049426,14972556,14963154,14627702,14580347,14569024,12944920,12942536,12917420,12894230,12887902,12832472,12753906,12727882,12651893,12588988,12486002,12458222,12368330,12368300,12177005,12115727,12065898,12052871,11809800,11780068,11739744,11739686,11730934,11713533,11713532,11704662,11689688,11689614,11549886,11547919,11545735,11504720,11373315,11282025,11145967,11118314,11112772,11080476,10985245,10983978,10964778,10958691,10944537,10931842,10913173,10903436,10866664,10757782,10671520,10661406,10617616,10574912,10545121,10536359,10467404,10465067,10454543,10438593,10393900,10393184,10384302,11884399,10377393,10364329,10364292,10329126,10329125,10082552,10077579,10066804,10049833,9990016,9872325,9843510,9832504,9811724,9765201,9696809,9651670,9649438,9570510,9557739,9491887,9356449,9334326,9334325,8849451,8676484,17168834,15994812,16146763,16035254,15719065,15638724,15473004,15183343,15139295,14984439,16781761,15498776,15905409,15142377,10656684,12883554,12944466,9499409,7853496,12676794,19297489,19179338,18931076,18780834,18773076,18620576,18566585,18391197,18353948,18205180,18039861,17855633,17724342,17690245,17686863,17540406,17502349,17452463,17352406,17317667,17014716,16893449,19818711,20714219,16109376,15546612,17148452,17643375,18029348,18200011,19387490,19883659,20210365 904 NM_001240,AC079951,AF255307,CH471111,AF045161,AF048730,AK290990,EF688064 NP_001231,AAF72184,EAW57998,AAC39638,AAC39664,BAF83679,ABV58572,O60563,Q9NR57,AAI56507,AAI72543 Hs.279906 CCNT|CYCT1|HIVE1 CDK9-associated C-type protein|Human immunodeficiency virus-1 expression|cyclin C-related protein|cyclin T1b|cyclin-T|cyclin-T1|human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1|subunit of positive elongation transcription factor b protein-coding 1319417 CCNT2 cyclin T2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. Two alternatively spliced transcript variants, which encode distinct isoforms, have been described. [provided by RefSeq] 1580863 16109376,9499409,18029348,12676794,18391197,17452463,16841087,16331689,15815621,15563843,15302935,12832472,12477932,12037672,11747605,11713533,11282025,10465067,10364329,10329126,10049833,17643375,19883659,20379614,14702039,16344560 905 CH471058,AF048731,AF048732,AK075041,AK292913,AK294889,BC114366,BX648174,NM_058241,NM_001241,AC016725,AJ297062,AY865621,AK023645,AU157699,NR_037649 EAX11644,EAX11645,EAX11646,EAX11647,AAC39665,AAC39666,BAF85602,BAG57982,AAI14367,O60583,NP_490595,NP_001232,AAY14998,AAW56073 Hs.591241,Hs.658324 CYCT2|FLJ13583|FLJ90560|MGC134840 SDS-stable vimentin-bound DNA fragment HEF42VIM22|cycT2|cyclin T2a|cyclin T2b|cyclin-T2|subunit of positive elongation transcription factor b protein-coding 4889025 CCNT2P1 cyclin T2 pseudogene 1 100418763 AL360270,NG_026970 pseudo 1347341 CCNY cyclin Y Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM] 11256614,19422935,19204726,19174780,20886065,19068216,18984674,18438405,18060517,17081983,15489334,15324660,15302935,15164054,14702039,12477932,8889548,16385451,19524571,20176734,20441050 219771 BC094815,BC104773,BC104801,BC143450,BC143455,BQ014589,BU159499,BU675909,AL117336,AL121749,AL592445,AL603824,CH471072,AF413522,AF429969,AF465728,AF465729,AK024813,AK057280,AK303283,AK314666,AL834355,AY504868,BC015778,BC050310,BC069224,NM_145012,NM_181698 AAH69224,AAH94815,AAI04774,AAI04802,AAI43451,AAI43456,Q8ND76,NP_659449,CAH72501,CAH73707,CAH73709,CAH70072,CAH70073,CAH71567,CAH71568,EAW85912,EAW85913,EAW85914,AAL07802,AAP97301,AAL78998,AAL78999,BAB71409,BAH13930,BAG37223,CAD39020,AAS79427,NP_859049 Hs.14745,Hs.651463,Hs.714184 C10orf9|CBCP1|CCNX|CFP1|FLJ95513 OTTHUMP00000019452|chromosome 10 open reading frame 9|cyc-Y|cyclin box protein 1|cyclin fold protein 1|cyclin-X|cyclin-Y|cyclin-box carrying protein 1 protein-coding 1606146 CCNYL1 cyclin Y-like 1 16344560,16341674,15302935,14702039,12477932,16712791 151195 NM_001142300,NM_152523,AC096772,CH471063,AA731590,AK026922,AK095479,AK097751,BC047293,BC067253,BM772734,CB158848,CN482952,DA730784 NP_001135772,NP_689736,AAY24056,EAW70420,EAW70421,EAW70422,EAW70423,BAC05160,AAH67253,Q8N7R7 Hs.471234,Hs.597952 FLJ40432 cyclin-Y-like protein 1 protein-coding 1346524 CCNYL2 cyclin Y-like 2 12477932 414194 XR_110546,XR_111061,XR_114355,AL391099,BC039000 CAI12446,Q5T2Q4 Hs.568048 C10orf21|bA178A10.2 OTTHUMP00000019474|chromosome 10 open reading frame 21|cyclin Y-like 2|cyclin-Y-like protein 2 protein-coding 1606616 CCNYL3 cyclin Y-like 3 15616553 642326 XM_925865,XM_001715732,AC135776,CH471189,DW009600,XM_002346799 XP_930958,XP_001715784,P0C7X3,EAW54759,XP_002346840 Hs.692710 Putative cyclin-Y-like protein 3|cyclin Y-like 3 protein-coding 1346304 CCO central core disease of muscle 1322623 CCPG1 cell cycle progression 1 17092945,14702039,12477932,10574462,9383053 9236 NM_020739,NM_004748,AC013355,AC018926,CH471082,AB033080,AF011794,AF212228,AK022459,AK292795,AL705964,BC015203,BC027621,BC029398,BC034914,BC039871,BC042826 NP_065790,NP_004739,EAW77481,EAW77482,EAW77483,EAW77484,EAW77485,EAW77486,BAA86568,AAB69314,AAK14914,BAB14042,BAF85484,AAH15203,AAH29398,AAH34914,AAH39871,Q9ULG6 Hs.285051 CPR8|FLJ60574|KIAA1254 cell cycle progression 8 protein|cell cycle progression protein 1|cell cycle progression restoration protein 8 protein-coding 1349625 CCR1 chemokine (C-C motif) receptor 1 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq] 2307162,1580863 19913121,20628086,20634891,17558413,18240029,19423540,19553544,19603542,19664396,19687291,19693089,20015385,20056178,20086017,20154287,20190752,20406964,20438785,15001559,15474493,7505609,10910894,10734056,7683036,19017998,18972130,18559339,18311140,18178867,17914560,17464174,17389578,17336272,17298994,17192849,17135764,16969502,16837468,16323127,16226254,16182378,15950672,15927850,15548526,15489334,15337751,15265234,15103513,15039444,14674010,14637022,14595653,14530297,12794150,12763925,12651617,12477932,12270118,12085329,12070001,11920567,11832479,11470772,11449371,11116158,11110672,11085751,10770925,10702689,10660125,10583963,10202040,10094132,9886417,9558365,9346309,9289016,9143512,9115216,8631787,8626727,8530354,8011297,7679328,7594543,7545673,15053339,11804551,20429924,18577758,2834384,20802378 2307162 1230 AC104439,CH471055,AI089760,BC051306,BC064991,BT019908,BT019909,BX337412,CK903574,CR609171,D10925,L09230,L10918,NM_001295 NP_001286,EAW64756,EAW64757,AAH51306,AAH64991,AAV38711,AAV38712,BAA01723,AAA58408,AAA36543,P32246,Q5U003,ACE87149,ACE86468 Hs.301921 CD191|CKR-1|CKR1|CMKBR1|HM145|MIP1aR|SCYAR1 C-C CKR-1|C-C chemokine receptor type 1|CC-CKR-1|CCR-1|LD78 receptor|MIP-1alpha-R|RANTES receptor|RANTES-R|macrophage inflammatory protein 1-alpha receptor protein-coding 1606584 CCR10 chemokine (C-C motif) receptor 10 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM] 14667819,7851889,17071491,16785557,16675558,16460738,15700309,15489334,12477932,11821900,11298490,10975800,10781587,10725697,10725696,10706668,9364936,8889548,17474147,18240029,18782672,20237496,18577758 2826 NM_016602,AC100793,CH471152,U13667,AF208237,AF215981,AY429103,BC098132,BC098157,BC098304,BC099840,BM930170,CA423133,CR613205 NP_057686,EAW60866,AAA64593,AAF72871,AAF63709,AAR07898,AAH98132,AAH98157,AAH98304,AAH99840,P46092,ACE87769,ACT64432 Hs.278446 GPR2 C-C CKR-10|C-C chemokine receptor type 10|CC chemokine receptor 10|CC-CKR-10|CCR-10|G protein-coupled receptor 2|G-protein coupled receptor 2 protein-coding 1603716 CCR2 chemokine (C-C motif) receptor 2 This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq] 2313557,2313561,2313563,2313564,2313558,2307043,2313562,4891443,4145124,4145109,4144893,4144896,4144897,734715,4144894,4145065,4144888,4144903,4145002,4145106,4145110,4145126,4144898,4145111,4145068,632391,4144890,4145064 17465499,17464174,17428349,17426779,17417600,17413295,17395051,17364026,17361671,17355643,17298432,17295203,17240189,17216598,17135764,17094383,17091019,17060059,16950632,16908772,16903979,16865553,16858645,16781696,16733654,16641997,16631114,16598837,16529059,16524739,16485782,16480760,16478397,16461193,16426243,16415174,16356504,16344560,16323127,16320328,16314800,16305685,16286055,16286054,16261210,16207551,16206074,16196460,16140745,16123688,16095529,16055130,16033640,15980693,15976001,15929697,15863470,15793370,15769362,15754978,15750046,15721423,15639953,15611878,15602133,15585333,12445801,12436194,12426226,12403355,12399623,12374865,12239249,12215924,12201365,12192431,12149192,12082592,12079277,12078856,12070001,12032878,12010355,12001056,11988632,11964548,11958683,11898620,11873083,11860823,11860793,11856781,11782014,11779135,11756347,11752157,11729511,11709782,11696224,11694103,11596075,11590385,11500196,11485615,11477473,11470772,11468722,11385319,11377705,11350939,11264152,11181995,11175286,11120855,11046064,11023492,10985245,10888629,10741397,10529171,10479649,9886417,9789057,9710230,9662369,9501202,9287323,9252328,9225989,11115360,10877489,10486323,9736741,9653051,20681057,20808917,2834384,18577758,15995708,9670957,10201901,10623817,9548499,10751368,8995400,8146186,19559392,19535619,19520154,19506371,19479237,19465829,19433914,19420105,19263529,19258923,19225544,19196047,19131662,19124913,19098363,19082218,19064579,19055601,19037908,19032065,19028820,19017998,19002595,18996288,18977759,18974840,18936436,18928397,18855658,18846510,18845960,18829011,18763111,18676680,18633131,18615095,18513341,18391751,18332000,18306985,18197127,18186797,18172114,18164016,18096169,18093816,18060801,18055544,17989610,17934338,17917677,17845302,17786209,17715128,17704101,17703412,17703277,17688234,17672867,17664883,17653321,17615573,17604544,17596666,17560067,17504503,17499741,17482150,15579296,15575507,15489334,15488313,15472820,15466648,15465089,15458467,15362666,15319853,15257681,15236615,15230854,15192276,15140377,15135805,15086398,15086346,15076247,14981141,14742283,14647058,14644039,14624371,14533983,14533004,13678532,12913933,12889997,12884524,12882757,12853745,12853162,12837756,12719858,12680626,12654703,12651900,12584049,12571520,12557141,12556692,12477932,12469616,12447757,9195948,9143512,9115216,9058802,8884276,8530354,8048929,16831471,15992849,15053339,11804551,20485444,20536507,20603037,20628649,20637631,20673868,20726788,20740585,17558413,18240029,19170196,19527467,19578796,19625176,19643177,19669591,19692168,19693089,19720836,19841162,19904283,19942750,19950235,19958843,19965779,20017911,20038229,20066125,20153665,20181074,20182805,20190752,20220260,20231199,20339010,20364004,20411675,20442634,20449800,20452482,20483750,20503287,20531015,20537184,20947712,21054877 2313557,2313561,2313563,2313564,2313558,2307043,2313562,4891443,4145124,4145109,4144893,4144896,4144897,734715,4144894,4145065,4144888,4144903,4145002,4145106,4145110,4145126,4144898,4145111,4145068,632391,4144890,4145064 729230 NM_001123396,AC098613,AC138069,AF545480,AX705062,CH471055,U80924,U95626,AK292685,AK292920,NM_001123041,AV715904,BC074751,BC095540,BC126452,BC136396,BQ027284,BX101672,D29984,DA927445,DC401093,DC418358,U03882,U03905,X95583,NG_021428 NP_001116513,NP_001116868,AAN16400,CAD88094,EAW64760,EAW64761,EAW64762,AAC51636,AAC51637,AAB57791,AAB57792,BAF85374,BAF85609,AAH74751,AAH95540,AAI26453,AAI36397,BAA06253,AAA19119,AAA19120,CAA64835,O95950,P41597,Q4VBL2,ADR82956 Hs.511794,Hs.705362 CC-CKR-2|CCR2A|CCR2B|CD192|CKR2|CKR2A|CKR2B|CMKBR2|FLJ78302|MCP-1-R|MGC103828|MGC111760|MGC168006 C-C CKR-2|C-C chemokine receptor type 2|CCR-2|MCP-1 receptor|OTTHUMP00000209947|OTTHUMP00000209949|monocyte chemoattractant protein 1 receptor|monocyte chemotactic protein 1 receptor protein-coding 1345616 CCR3 chemokine (C-C motif) receptor 3 The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1580863,4145618,4145620,4145645,4145642,4145622,4145634,4145633,4145623,4145617,4145454,4145395,4145646,4145643,4145619,1601020,4145638,4145111,4145632 20505746,20603037,20647273,20726325,10201960,10713092,9302298,19258923,19247692,19218218,19131662,19028820,19017998,18974840,18805825,18676680,18636124,18379861,18311140,18244953,17983872,17845580,17703412,17672867,17146638,17135764,16920975,16174786,16081847,15807893,15607028,15580493,15507393,15489334,15476879,15219825,15086398,20659406,20734064,20923436,18240029,19170196,19414538,19423540,19525930,19542083,19553323,19559392,19625176,19692168,19693089,19714638,19731977,20056178,20144207,20190752,20220260,20237496,20306659,20364559,20406964,20438785,20503287,14733956,14702039,14647058,14581140,12902471,12884299,12794150,12654630,12477932,12397598,12393570,12218106,12149192,12079287,12023397,11994538,11991282,11920572,11832479,11449371,11396683,11307756,11196669,11149986,11120849,11110785,11085751,11001881,10975800,10900353,10666479,10642580,10527858,10514402,10488147,10415069,10094132,9789057,9765440,9712872,9573273,9419219,9346309,9289016,9252350,9182688,9143512,9024664,9005985,8884276,8676064,8674119,8642344,8631926,8631813,8609214,7622448,7594543,16631222,17041228,16904155,9736741,9636210,15053339,9653051,9359702,16712896,16470129,15992849,15194768,11115360,10877489,10590105,15857508,20022477,21041734,21077277,18577758 4145618,4145620,4145645,4145642,4145622,4145634,4145633,4145623,4145617,4145454,4145395,4145646,4145643,4145619,1601020,4145638,4145111,4145632 1232 NM_001837,NM_178329,AB023887,AC104439,AF224497,AF237381,AF247359,AF247360,AF247361,AY221092,CH471055,EF064760,U49727,U51241,AF026535,AF224495,AF262299,AF262301,AF262302,AF262303,AF262304,BC110297,BC130318,BC130320,U28694,AF262300,NM_001164680,NM_178328,FB584191 NP_001828,NP_847899,BAA86964,AAK49028,AAL85154,AAO65970,EAW64758,EAW64759,ABK41943,AAB09726,AAB16831,AAB82589,AAK49027,AAL85628,AAL85630,AAL85631,AAL85632,AAI10298,AAI30319,AAI30321,AAC50469,P51677,Q8TDP4,Q8TDP5,Q8TDP6,Q8TDP7,Q8TDP8,Q96T96,Q96T97,AAL85629,NP_001158152,NP_847898,ADR82939,CAR96700 Hs.506190 CC-CKR-3|CD193|CKR3|CMKBR3|MGC102841 C-C CKR-3|C-C chemokine receptor type 3|CC chemokine receptor 3|CCR-3|OTTHUMP00000164718|OTTHUMP00000209746|OTTHUMP00000209747|OTTHUMP00000209748|b-chemokine receptor|eosinophil CC chemokine receptor 3|eosinophil eotaxin receptor protein-coding 1347259 CCR4 chemokine (C-C motif) receptor 4 The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq] 2306304,2306306,1580863,2317610 19913121,20628086,18240029,19261691,19423540,19903885,19942450,20164417,20190752,20237293,20237496,20364559,20406964,20438785,7642634,19374191,19244125,19239991,19106589,18782672,18071306,17546636,17117949,17071491,15955100,15621800,15569983,15489334,20412707,9933589,9743322,9430724,9169480,8884276,8573157,12429730,15857508,15328188,15202833,15187160,14657875,12778466,12485447,12477932,12456591,12406880,12270118,12070001,11861261,11196669,10754297,10466728,10036181,20148806,20334681,18577758,20963786 2306304,2306306,2317610 1233 AB023888,AB023889,AB023890,AB023891,AB023892,AC137560,AY322539,CH471055,EF064759,AK292674,BC069139,BC071751,BC074935,NM_005508,CD639869,CD640816 NP_005499,BAA86965,BAA86966,BAA86967,BAA86968,BAA86969,AAP84352,EAW64440,EAW64441,ABK41942,BAF85363,AAH69139,AAH71751,AAH74935,P51679 Hs.184926 CC-CKR-4|CD194|CKR4|CMKBR4|ChemR13|HGCN:14099|K5-5|MGC88293 C-C CKR-4|C-C chemokine receptor type 4|CCR-4|chemokine (C-C) receptor 4 protein-coding 1351344 CCR5 chemokine (C-C motif) receptor 5 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 632396,1581175,1581176,1581181,1581182,1626290,1626283,1626284,2307064,2307192,2307107,2306302,1580863,1358460,2317570,2317571,2317567,4889880,4892104,1582346,4890426,4892017,4890425,4890431,4890436,4890446,4892114,4890442,4892066,4892067,4892106,4145106,4889986,4892077,4892091,4892099,2325935,4890445,4890447,4890034,1626279,4892065,4890438,4892108,4892119,4892063,4892070,4892086,4892087,4892088,4892090,4892098,4892103,4890459,4891446,4144893,4892093,4892101,4145638,4892079,4890448,4892094,4145622,4892085,4892113,4892092 10521508,18240029,19170196,19460331,19535121,19538721,19553544,19559392,19561149,19578796,19585516,19603542,19625176,19625411,19644155,19644158,19669591,19679608,19680536,19692168,19692476,19692480,19700905,19706316,19729379,19740335,19744036,19744740,19769961,19811270,19811439,19816596,19841162,19874552,19886839,19894308,19917679,19950235,19956635,19958843,20025530,20025985,20038229,20053336,20068218,20075058,20087947,20107582,20153665,20169157,20174557,20182805,20190752,20203694,20206716,20220260,20237496,20331378,20334567,20364409,20377425,20378664,20381825,20411675,20420684,20442634,20453841,20463745,20503287,20518834,20530467,20531015,19474452,19433914,19420105,19389855,19357773,19334035,19321618,19297481,19289833,19263529,19260142,19258923,19250219,19247692,19225544,19218218,19212663,19201454,19200444,19196047,19172482,19170639,19155524,19143484,19131662,19479237,19476483,19129082,19124913,19116725,19098363,19064722,19064579,19050382,19037908,19032065,19028820,19018669,19017985,19005677,18989363,18974840,18972295,18949389,18941536,18928397,18923649,18855658,18846999,18845960,18820725,18814951,18781860,18776933,18763111,18692212,18689270,18676680,18648518,18633131,18632580,18629619,18623133,18611987,18590744,18543610,18524826,18511806,18498240,18462992,19017998,18436884,18405329,18391751,18386165,18379014,18361062,18353949,18346864,18311470,18295459,18255039,18230715,18218038,18205260,18203956,18197127,18195571,18194353,18191728,18189189,18182569,18179389,18179388,18162443,18097239,18096812,18094161,18060801,18036244,17989610,17984846,17971457,17963165,17952079,17929678,17920529,17909797,17901336,17884183,17855654,17855336,17845302,17786209,17713445,17703412,17691823,17686153,17675516,17672867,17671738,17653092,17645788,17644519,17640964,17633563,17627030,17625759,17620369,17607321,17604289,17596666,17585540,17565662,17564248,17560067,17530006,17522201,17511851,17507486,17465678,17462514,17460174,17445875,17442950,17428349,17426779,17417600,17413295,17383752,17361671,17355643,17351762,17331851,17331026,17305874,17301575,17273779,17261788,17257590,17240189,17237417,17214851,17169533,17166523,17148969,17145599,17135764,17112859,17101151,17094383,17091019,17079285,8639485,12421915,10469138,8663314,15001559,10393923,10679098,10201901,10741397,12091904,10415069,11278962,19520154,19506371,19479371,17067435,17063508,17060059,17053144,16999868,16960780,16937446,16916647,16909455,16888899,16887960,16879946,16872485,16865553,16855620,16847113,16807236,16775617,16774544,16764352,16721558,16721228,16703416,16672419,16641997,16633049,16614115,16598837,16547971,16545485,16541097,16529059,16524739,16513874,16512757,16501811,16485782,16481131,16480760,16478397,16476734,16461193,16442182,16418398,16405836,16395252,16358723,16344560,16335661,16323127,16314800,16312181,16305685,16286055,16284527,16270124,16261210,16249700,16249462,16248677,16233918,16206074,16196460,16182378,16179731,16174786,16161154,16157597,16144840,16140745,16118671,16100775,16055130,16034118,16015368,15985194,15981170,15980693,15980670,15976369,15964389,15962231,15958832,15950936,15932625,15916792,15902300,15885315,15882964,15863470,15856455,15851912,15821335,15807900,15802968,12815099,12798016,12788308,12767984,12751031,12745546,12726730,12688247,12680626,12667818,12651900,12634405,12619446,12612937,12612298,12610055,12599073,12587636,12586555,12584049,12579509,12571520,12571248,12557141,12556692,12555203,12552446,12532229,12531905,12522035,12514416,12368322,11711617,11709091,11689632,11679153,11529558,11390601,11356952,11698270,11468147,12551992,15972662,10807185,10872839,9362541,17101166,16966601,16476981,16378977,15983047,15964018,15890935,15857992,12610158,12490404,12408990,12202222,12163614,11861850,11153675,10562492,10544150,10482572,10357469,10200301,9971818,9870313,9261451,9184207,16300985,12873764,9334377,9188565,17053352,16817962,16702010,16672549,12887918,12477875,9261346,9353123,15992849,15279544,14990703,12963807,12873765,12692222,12689409,11427892,11313374,11162839,10882583,10820198,10775626,10644351,10393974,9576751,9420238,9359702,9031325,8976200,8898753,11861874,11602715,11517394,11489906,11485305,11464139,11429110,11397808,11356967,11312658,11290759,11265761,11264367,11263244,11118070,11115360,11086073,11024154,11005830,10961858,10888639,10877489,10738970,10623731,10606089,10590121,10590105,10585143,10559284,10555208,10527688,10505675,10487781,10449282,10446313,10413516,10370370,10229873,10029247,9882290,9636210,9576954,9020356,8995603,8906796,8906795,8805353,15854903,15629079,15586413,11278738,8674119,8649512,8649511,3960725,3512269,3346208,2569467,2564392,2183196,9256481,15479838,15258189,15047829,14694113,14505910,12871111,16375941,16631222,16963439,16841089,16621960,17121788,11414813,11413305,9653130,15113926,11278567,10970739,10888615,10826481,10801487,10602038,12183462,11356961,10938094,10823934,10574939,9890944,9882373,9653051,9525683,9445013,9420225,17210123,11342415,10438703,11238869,10482561,10438870,10339592,10497246,11023526,12857973,10758170,10725362,17147503,15321703,11264346,11134270,11069996,20710056,20865789,20801883,20932773,21084992,20442662,20465832,20875295,18577758,12509908,12496074,12477932,12462338,12461425,12451219,12447757,12445801,12437612,12429730,12427015,12426633,12426393,12426392,12413885,12412204,12403770,12403355,12378793,12377943,12356205,12355376,12271718,12239139,12215252,12201365,12200385,12176010,12169668,12166499,12163044,12140749,12136242,12131184,12093918,12085329,12082592,12070001,12065593,12056598,12055576,12036855,12032878,12023175,12010355,12001056,11994538,11994442,11988632,11966770,11966764,11964548,11958683,11937056,11920324,11920312,11901272,11878912,11877445,11876757,11873082,11860823,11860793,11859127,11856781,11809184,11803051,11781692,11756347,11752157,11751947,11734558,11733580,11729511,11727771,11709782,11703822,11700073,11698699,11696224,11694103,11693435,11679916,15793370,15793360,15787642,15769362,15767436,15767435,15757671,15754978,15737629,15725749,15708547,15651660,15650194,15639953,15610230,15602133,15596839,15592455,15591779,15588345,15585333,15577536,15575507,15566517,15557916,15548261,15500552,15489334,15488313,15465089,15458467,15385740,15362666,15354329,15331395,15319853,15308751,15307921,15302103,15301862,15288441,15280786,15251452,15242539,15236615,15230854,15215889,15192276,15192272,15181567,15180829,15169555,15140377,15135805,15125257,15124759,15117454,15086398,15086346,15080861,15076247,15039132,15016843,15009175,15004773,15000812,14982745,14981141,14963124,14742283,14716309,14715575,14697747,14674010,14673528,14672331,14647058,14645006,14644028,14637022,14636691,14624371,14616291,14597737,14583186,14581567,14576050,14533983,14533004,14517611,14501804,12964123,12960247,12960231,12925765,12915585,12913933,12887913,12884524,12882661,12874407,12865070,12858455,12853745,12846056,12837756,12829440,12819030,11596075,11595595,11591716,11559423,11543895,11511825,11504955,11500196,11485615,11484163,11477473,11470772,11449371,11448957,11447384,11403814,11398114,11393656,11385319,11377705,11369664,11354628,11350939,11336643,11335892,11334429,11274729,11264152,11196706,11196681,11188946,11181160,11177400,11175286,11141322,11125899,11125885,11116158,11085751,11072599,11023492,10985308,10917742,10816381,10751368,10702689,10640778,10602409,10477718,10477567,10465086,10453044,10384144,10364178,10089882,10085131,10037796,9765440,9632396,9468473,9446638,9399903,9388201,9359654,9343222,9289016,9207783,9143512,8756719,8699119,20130232,19913121,20536507,20598754,20603037,20608170,20628086,20628649,20682662,20729133,20811274,20050936,2834384 632396,1581175,1581176,1581181,1581182,1626290,1626283,1626284,2307064,2307192,2307107,2306302,1358460,2317570,2317571,2317567,4889880,4892104,1582346,4890426,4892017,4890425,4890431,4890436,4890446,4892114,4890442,4892066,4892067,4892106,4145106,4889986,4892077,4892091,4892099,2325935,4890445,4890447,4890034,1626279,4892065,4890438,4892108,4892119,4892063,4892070,4892086,4892087,4892088,4892090,4892098,4892103,4890459,4891446,4144893,4892093,4892101,4145638,4892079,4890448,4892094,4145622,4892085,4892113,4892092 1234 AF052244,GQ917109,NG_012637,AF161920,AF161921,AX256200,AX705068,AY221093,AY463213,AY463214,AY463215,AY744141,AY874119,AY874120,AY874121,CH471055,DQ217934,EF408698,EF408699,EF408700,U83326,U95626,X91492,AF011500,AF011501,AF011502,AF011503,AF011504,AF011505,AF011506,AF011507,AF011508,AF011509,AF011510,AF011511,AF011512,AF011513,AF011514,AF011515,AF011516,AF011517,AF011518,AF011519,AF011520,AF011521,AF011522,AF011523,AF011524,AF011525,AF011526,AF011527,AF011528,AF011529,AF011530,AF011531,AF011532,AF011533,AF011534,AF011535,AF011536,AF011537,AK292132,BC038398,DA818906,U54994,U57840,NM_001100168,AB182984,AB182988,AB182990,AC098613,AF009962,AF031237,AF052539,AF056020,AF161909,AF161910,AF161911,AF161912,AF161913,AF161914,AF161915,AF161916,AF161917,AF161918,AF161919,NM_000579,FB584189,HC295434 AAF65577,ACX50405,AAD47677,AAD47678,CAC94550,CAD88097,AAO65971,AAS19312,AAS19313,AAS19314,AAW62445,AAW82037,AAW82038,AAW82039,EAW64763,EAW64764,ABB01004,ABQ95606,ABQ95607,ABQ95608,AAC51797,AAB57793,CAA62796,AAB65700,AAB65701,AAB65702,AAB65703,AAB65704,AAB65705,AAB65706,AAB65707,AAB65708,AAB65709,AAB65710,AAB65711,AAB65712,AAB65713,AAB65714,AAB65715,AAB65716,AAB65717,AAB65718,AAB65719,AAD47676,AAB65720,AAB65721,AAB65722,AAB65723,AAB65724,AAB65725,AAB65726,AAB65727,AAB65728,AAB65729,AAB65730,AAB65731,AAB65732,AAB65733,AAB65734,AAB65735,AAB65736,AAB65737,BAF84821,AAH38398,AAC50598,AAB17071,A0A502,O14694,P51681,Q38L21,Q3L3Q6,Q5EKM8,Q5EKM9,Q5EKN0,Q5KSY4,Q5KSY5,Q5QIN9,Q5QIP0,Q5QIP1,Q9P1T4,Q9P1T8,Q9UBJ7,Q9UBT9,Q9UN23,Q9UN24,Q9UN25,Q9UN26,Q9UN27,Q9UN28,NP_000570,NP_001093638,BAD83805,BAD83807,BAD83808,AAC23944,AAB94735,AAD18131,AAF65579,AAD47666,AAD47667,AAD47668,AAD47669,AAD47670,AAD47671,AAD47672,AAD47673,AAD47674,AAD47675,CAR96699,CBJ06541 Hs.450802 CC-CKR-5|CCCKR5|CD195|CKR-5|CKR5|CMKBR5|FLJ78003|IDDM22 C-C CKR-5|C-C chemokine receptor type 5|C-C motif chemokine receptor 5 A159A|CCR-5|HIV-1 fusion coreceptor|OTTHUMP00000209784|chemokine receptor CCR5|chemr13 protein-coding 1318406 CCR6 chemokine (C-C motif) receptor 6 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq] 1580863 20439195,20634891,20511548,9186513,10521347,11001880,9223454,19492413,19324905,19305396,19249008,19233848,18703490,18587394,18465142,18218038,18097022,17615381,17562763,17171755,17133360,17075975,16641550,16622267,16344560,16215992,16095490,15701269,15591779,15489334,15483227,14574404,12642342,12514792,12477932,12193700,12149255,12081481,12070001,12067311,11994436,11751947,11714836,11164896,9373149,9294138,9294137,9169459,9070937,8886020,15972662,20570966,20459729,18240029,19423540,19539215,19811428,20022113,20023216,20056178,20068036,20194631,20220766,20379614,20406964,20438785,20453841,20453842,20483750,20526339,20526340,18577758,20872189,8125298,20720211,2834384,20334681,19760754,20973039,21072187 1235 NM_004367,NM_031409,AL121935,CH471051,U45984,U68032,Z79784,AK223494,AK293015,AY242126,BC037960,BX647686,CD692892,CD707633,DA645096,DN996219,U60000,U68030,U68031 NP_004358,NP_113597,CAB99328,EAW47506,EAW47507,AAB62714,AAC51125,CAB02144,BAD97214,BAF85704,AAO92293,AAH37960,AAB06949,AAC51124,AAD14874,P51684,Q53EZ5,ABM83388,ABM86600 Hs.46468 BN-1|C-C CKR-6|CC-CKR-6|CCR-6|CD196|CKR-L3|CKR6|CKRL3|CMKBR6|DCR2|DRY-6|DRY6|GPR-CY4|GPR29|GPRCY4|STRL22 C-C CKR-6|C-C chemokine receptor type 6|CC-CKR-6|CCR-6|DRY6|G protein-coupled receptor 29|G-protein coupled receptor 29|LARC receptor|OTTHUMP00000017618|chemokine (C-C) receptor 6|chemokine receptor-like 3|seven-transmembrane receptor, lymphocyte, 22 protein-coding 1347245 CCR7 chemokine (C-C motif) receptor 7 The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. [provided by RefSeq] 1580863 20439195,16344560,18240029,19068542,19423540,19513547,19536265,19536742,19540558,19585516,19731977,19749090,19862774,20029460,20056178,20150960,20237496,20406964,20438785,14990723,12851649,12799021,12673677,12642342,12486098,12477932,12149218,12070001,12023337,11970971,11929789,11861876,11830455,11507220,11359797,11145663,10861057,10706668,10607681,9743376,9725259,9585422,9507024,8889548,7851893,7488016,15972662,16278001,20651394,21048031,2834384,19615795,20036791,18577758,8383238,9153236,10741397,19287948,19196101,19136936,19074885,18802075,18696160,18664492,18623114,18544997,18497951,18437055,18319253,18235009,18166500,18065728,17890452,17687340,17587445,17440035,17178876,17032700,17006331,16887149,16857986,16802356,16786131,16690519,16500130,16278415,16278374,16272303,16225771,16223574,16115904,15950936,15867478,15778365,15753377,15743472,15674360,15569314,15489334,15304089,15284247,15265234,15247147,15122702,15073111,15059845,15040017,15034011,20811680,20889506 1236 DA814913,NM_001838,AC004585,CH471152,EF064758,L31584,X84702,AK127810,AK310277,AK312732,AY587876,BC035343,BU740631,CR592465,L08176,L31581,GN344041 NP_001829,EAW60669,ABK41941,AAA74230,BAG54575,BAG35603,AAT52232,AAH35343,AAA58615,AAA74231,P32248,ABM83040,ABM86234,CAY55956 Hs.370036 BLR2|CD197|CDw197|CMKBR7|EBI1 C-C CKR-7|C-C chemokine receptor type 7|CC chemokine receptor 7|CC-CKR-7|CCR-7|EBV-induced G protein-coupled receptor 1|EBV-induced G-protein coupled receptor 1|Epstein-Barr virus induced G-protein coupled receptor|Epstein-Barr virus induced gene 1|MIP-3 beta receptor|chemokine (C-C) receptor 7|epstein-Barr virus-induced G-protein coupled receptor 1|lymphocyte-specific G protein-coupled peptide receptor protein-coding 1312592 CCR8 chemokine (C-C motif) receptor 8 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq] 2306304,1580863 17558413,18240029,19074885,19423540,20237496,20406964,20438785,12551893,12547701,12525579,12477932,12163566,11007922,10888633,10540332,10469138,9521068,9480837,9469461,9211859,9207005,8977299,8886020,16631222,15992849,15053339,11804551,9417093,8816377,10910894,9670926,17693327,17641040,17082609,17023422,15814739,15489334,14576057,12967681,12832759,12645948,18577758,20455898 2306304 1237 NM_005201,AC104850,AY016370,CH471055,U45983,U62556,Y08456,Z79782,AF005210,AK314957,BC069067,BC074743,BC107152,BC107159,D49919 NP_005192,AAK08628,EAW64577,AAB61962,AAB05542,CAA69712,CAB02142,AAB62547,BAG37461,AAH69067,AAH74743,AAI07153,AAI07160,BAA23387,P51685,Q3KNR3 Hs.113222 CC-CKR-8|CCR-8|CDw198|CKR-L1|CKRL1|CMKBR8|CMKBRL2|CY6|GPR-CY6|GPRCY6|MGC129966|MGC129973|TER1 C-C CKR-8|C-C chemokine receptor type 8|CC chemokine receptor 8|CC chemokine receptor CHEMR1|CC-CKR-8|CC-chemokine receptor chemr1|CCR-8|GPRCY6|chemokine (C-C) receptor 8|chemokine (C-C) receptor-like 2|chemokine receptor-like 1 protein-coding 1352272 CCR9 chemokine (C-C motif) receptor 9 The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 20738854,16344560,10544196,10640743,10229797,18245522,18245518,17570212,17205512,16210593,15717282,15623660,15489334,14559839,12816994,12477932,11046037,10974041,10702689,10602049,10498628,18240029,19423540,19525985,19756884,20036838,20056178,20081876,20190752,20406964,20438785,18577758,2834384 10803 NM_031200,NM_006641,AC099782,AY242127,CH471055,U45982,AF145207,AF145439,AF145440,AJ132337,AK312824,AK313366,BC069678,BC095516,DB132476,NR_036525,DB103756 NP_112477,NP_006632,AAO92294,EAW64751,EAW64752,AAA93319,AAD38539,AAF66699,AAF66700,CAB43477,BAG35681,BAG36166,AAH69678,AAH95516,P51686,Q9UN87 Hs.225946 CDw199|GPR-9-6|GPR28 C-C CKR-9|C-C chemokine receptor type 9|CC-CKR-9|CCR-9|G protein-coupled receptor 28|G-protein coupled receptor 28 protein-coding 1313116 CCRK cell cycle related kinase The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase activates CDK2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 18508765,18391951,16552187,15489334,15164053,14597612,20466538,18029348,12477932,19672860,19884882,8889548 23552 NM_012119,NM_001039803,AF547664,AL353572,CH471089,CQ783936,AF035013,AK075325,AK226135,AK291713,AK294193,AK296328,AK298993,AY904367,NM_178432,BF966262,BI757318,BX647489,CR607702,AF113130,BC002655,AI479563,BM982394,CB992644,DB469301,NM_001170639,NM_001170640 NP_848519,NP_036251,NP_001034892,AAN28684,CAH72843,CAM17657,CAM17658,EAW62743,EAW62744,EAW62745,EAW62746,EAW62747,EAW62748,EAW62749,CAF86933,AAC98920,BAG52110,BAF84402,BAG57509,BAG59019,BAG61083,AAH02655,O95137,Q8IZL9,AAF43778,AAW82349,NP_001164110,NP_001164111 Hs.522274 CCRK|CDCH|P42|PNQALRE|p42 CAK-kinase p42|CDK-activating kinase p42|cell cycle-related kinase|cell division protein kinase 20|cyclin-dependent protein kinase H|cyclin-kinase-activating kinase p42 protein-coding 1602221 CCRL1 chemokine (C-C motif) receptor-like 1 The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 16791897,15489334,12477932,11981810,11134065,9469451,9373149,8125298,10734104,10706668,10767544,19383822 51554 HC305272,NM_016557,NM_178445,AC020632,AF193507,AF233281,AY221094,AF110640,AK225927,AK304461,AK313923,BC069438,BC095501,BQ015927 CBJ18620,NP_057641,NP_848540,AAF61299,AAF44751,AAO65972,AAF59827,BAG65277,BAG36644,AAH69438,AAH95501,Q4VBN4,Q9NPB9 Hs.310512,Hs.728115 CC-CKR-11|CCBP2|CCR-11|CCR10|CCR11|CCX CKR|CCX-CKR|CKR-11|PPR1|VSHK1 C-C CKR-11|C-C chemokine receptor type 11|CC chemokine receptor-like 1|OTTHUMP00000217053|chemocentryx chemokine receptor|chemokine, cc motif, receptor-like protein 1|orphan seven-transmembrane receptor, chemokine related protein-coding 1343576 CCRL1P chemokine (C-C motif) receptor-like 1 pseudogene 285737 NG_005663,AL121834 CCRL1P|dJ509I19.4 pseudo 1323460 CCRL2 chemokine (C-C motif) receptor-like 2 This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq] 9473515,18794339,16641997,15489334,15188357,12477932,9143512,20677014,20002784,20056178,20190752 9034 NM_001130910,AC098613,CH471055,CQ882060,CS115011,CS115013,U95626,AF015524,AF015525,AJ344142,AK296673,AK313312,BC071682,BC096075,NM_003965,BC096076,DC387981 NP_003956,NP_001124382,EAW64765,EAW64766,CAH60289,CAJ15094,CAJ15095,AAB57794,AAC34601,AAC34602,CAC82985,BAG59270,BAG36117,AAH71682,AAH96075,AAH96076,O00421,ABM83028,ABM86222 Hs.535713 CKRX|CRAM|CRAM-A|CRAM-B|FLJ55815|HCR|MGC116710|MGC34104 C-C chemokine receptor-like 2|OTTHUMP00000209785|OTTHUMP00000209787|chemokine receptor CCR11|chemokine receptor X|putative MCP-1 chemokine receptor protein-coding 1349348 CCRN4L CCR4 carbon catabolite repression 4-like (S. cerevisiae) The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq] 1580863 10521507,18587630,16821125,12477932,11394964,19913121,20628086 25819 NM_012118,AC093602,AF199492,CH471056,AF183961,AF199493,BC021963,BC023512,BC077723,BC113494,BC113500,AF199494 NP_036250,AAG01387,EAX05129,EAX05130,EAX05131,AAD56548,AAG01388,AAH21963,AAH23512,AAH77723,AAI13495,AAI13501,Q8WTX0,Q9UK39,AAG01389 Hs.639842,Hs.656047 CCR4L|MGC142054|MGC142060|MGC4120817|MGC78549|NOC CCR4 protein homolog|CCR4-like (carbon catabolite repression 4, S.cerevisiae)|nocturnin protein-coding 733606 CCS copper chaperone for superoxide dismutase Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq] 1580863,1300048 9726962,9295278,19227972,19007184,18977241,18552350,18393442,17683925,17601350,16531609,16132821,15736924,15489334,15324660,15265083,12832419,12477932,11991808,11115513,11018045,10790544,10773661,10677207,10221913,9886096,20154138 9973 NM_005125,NG_008733,AP001157,CH471076,AF002210,AY113179,BC105016,BC112055,CR541928,CR592698,CR618281 NP_005116,EAW74549,EAW74550,EAW74551,AAC51764,AAM50090,AAI05017,AAI12056,CAG46726,O14618,Q8NEV0 Hs.502917 MGC138260 copper chaperone for superoxide dismutase|superoxide dismutase copper chaperone protein-coding 1350851 CCT cataract, congenital, total 907 1352326 CCT2 chaperonin containing TCP1, subunit 2 (beta) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of the gene described in this record have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 20573828,11532003,18029348,19332537,18391951,10404219,9819444,7953530,18782753,16085932,18715871,16236267,15635413,15489334,15324660,14532270,12665801,12477932,11580269,10748209,16712791,17643375,18775504,19851296,20198315,16497536,20562859 10576 NM_006431,AC018921,CH471054,U91327,AA401491,AB451223,AB451346,AF026166,AF026293,AK290767,AK294307,AK297685,AK302157,AK316397,AK316408,BC113514,BC113516,BT019966,CB138063,CR457071,CR594818,CR599514,CR606401,CR615034,CR616195,CR618455,CR619880,CR621324,NM_001198842 NP_006422,EAW97228,EAW97229,EAW97230,AAB67249,BAG70037,BAG70160,AAC98906,AAC96012,BAF83456,BAH11729,BAH12649,BAH13640,BAH14768,BAH14779,AAI13515,AAI13517,AAV38769,CAG33352,P78371,Q9H369,ADR83037,NP_001185771 Hs.189772 99D8.1|CCT-beta|CCTB|MGC142074|MGC142076|PRO1633|TCP-1-beta T-complex protein 1 subunit beta|T-complex protein 1, beta subunit|chaperonin containing t-complex polypeptide 1, beta subunit|chaperonin containing t-complex polypeptide 1, subunit 2 protein-coding 1342982 CCT3 chaperonin containing TCP1, subunit 3 (gamma) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 8573069,8001976,18029348,19165527,16710414,15489334,12586295,12477932,10635329,8110840,7953530,18782753,16085932,12620389,18715871,16169070,14499622,16189514,16497536,20562859,20936779,20634891,15383276,17643375,18775504,20193073,20139978 7203 NM_001008800,NM_005998,AL589685,CH471121,AB208882,AK126400,AK293477,AK300765,AK308023,AK315923,AK316387,AL518070,AL833197,AY524046,BC006501,BC008019,BG476176,BG746513,CR592621,CR603082,CR611330,CR613535,CR618496,CR619140,CR619495,U17104,X74801,NR_036564,NR_036565 NP_001008800,NP_005989,CAI14167,CAI14168,CAI14169,CAI14170,EAW52967,BAD92119,BAG54323,BAG56968,BAG62430,BAH14294,BAH14758,CAI46192,AAS94255,AAH06501,AAH08019,AAC50068,CAA52808,P49368,Q2TU64,Q59H77,Q5SZY0,ABM83940,ABM87258 Hs.491494 CCT-gamma|CCTG|PIG48|TCP-1-gamma|TRIC5 OTTHUMP00000025736|T-complex protein 1 subunit gamma|T-complex protein 1, gamma subunit|TCP1 (t-complex-1) ring complex, polypeptide 5|hTRiC5 protein-coding 3029011 CCT3P1 chaperonin containing TCP1, subunit 3 (gamma) pseudogene 1 20193073 646440 NG_022409,AC087360 CCT3-1P pseudo 1345648 CCT4 chaperonin containing TCP1, subunit 4 (delta) The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM] 1580863 8626763,9819444,17081065,16344560,15815621,15489334,14532270,12665801,12477932,11689615,11580270,10604479,9153422,8661059,7953530,15967112,16085932,17643375,18715871,18775504,18782753,20193073,18029348,16497536 10575 NM_006430,AC107081,CH471053,AF026291,AK129860,AK290538,AK307856,AK308942,AK312586,AL555753,AU128145,BC014676,BC106933,BC106934,CD369623,CR600123,CR600967,CR608512,CR615372,CR619877,CR620064,CR622073,U38846,AK294665,AK295330,AK303082,AK315975 ABZ92292,NP_006421,AAY24140,EAW99984,EAW99985,EAW99986,EAW99987,AAC96010,BAF83227,BAG35480,AAH14676,AAI06934,AAI06935,AAC50384,P50991,BAH11840,BAH12034,BAH13897,BAH14346 Hs.421509 CCT-DELTA|Cctd|MGC126164|MGC126165|SRB T-complex protein 1 subunit delta|TCP-1-delta|chaperonin containing t-complex polypeptide 1, delta subunit|stimulator of TAR RNA-binding protein-coding 2974874 CCT4P1 chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 12853948,20193073 650172 NG_016595,AC006006,CH236950 CCT4-2P pseudo 3539547 CCT4P2 chaperonin containing TCP1, subunit 4 (delta) pseudogene 2 20193073 100131638 AL445523,NG_022664 CCT4-1P pseudo 1354396 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 18029348,18421076,16821082,16399879,16236267,16189514,16169070,15889144,15489334,15231747,14702039,14532270,12530067,12502735,12477932,11580270,11580269,11532003,11358150,11162507,10747865,10393949,9250675,7953530,7788527,7615668,16085932,18782753,18715871,16548883,17643375,18775504,19651702,20193073,20468064,16497536 22948 CR604938,CR605385,CR606787,CR609903,CR611397,CR616179,CR617351,CR618337,CR619740,CR621852,CR624278,CR626727,D43950,NM_012073,NG_012160,AC012640,CH471102,AF275798,AJ012489,AK124354,AK289353,AK290393,AK293341,AK293437,AK301760,AK301985,AK302368,AK302383,AK303086,AK303147,AK316376,BC002971,BC006543,BC009454,BC035499,BC040027,BU858349,CR590360,CR594923,CR596856,CR599726,CR602835 BAA07894,P48643,Q96GI1,Q9BU08,Q9HB74,ABM83669,ABM86942,NP_036205,EAX08072,AAG23814,BAF82042,BAF83082,BAG56857,BAG56941,BAG63220,BAG63393,BAG63690,BAG63700,BAG64197,BAG64251,BAH14747,AAH02971,AAH06543,AAH09454,AAH35499 Hs.725167 CCT-epsilon|CCTE|KIAA0098|TCP-1-epsilon OTTHUMP00000220727|OTTHUMP00000220728|OTTHUMP00000220953|OTTHUMP00000221653|T-complex protein 1 subunit epsilon|T-complex protein 1, epsilon subunit protein-coding 2837779 CCT5P1 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1 20193073 402226 AC008628,NG_016575 CCT5-3P pseudo 3161437 CCT5P2 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 2 20193073 390415 AL359647,NG_016574 CCT5-P1|KIAA0098 pseudo 1312394 CCT6A chaperonin containing TCP1, subunit 6A (zeta 1) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 8034610,16236267,16211299,15489334,14532270,12853948,12665801,12477932,11532003,10810232,7953530,1602151,1352881,18782753,18715871,16085932,16497536,17643375,18775504,20193073 908 AF385084,AK297751,NM_001762,NM_001009186,AC092101,AC092579,CH471140,AB063318,AB209728,AK298371,AK313819,AK316230,AM295155,AW411253,BC106941,BC106942,BI464886,BU540578,CR590985,CR594866,CR600067,CR605318,CR609340,CR612852,CR613031,CR626775,CR626783,L27706,M94083 AAK61354,NP_001753,NP_001009186,AAS07451,EAX07972,EAX07973,EAX07974,BAB61032,BAD92965,BAG60101,BAG60610,BAG36555,BAH14601,CAL26601,AAI06943,AAA61061,AAA58676,P40227,Q59ET3 Hs.82916 CCT-zeta|CCT-zeta-1|CCT6|Cctz|HTR3|MGC126214|MGC126215|MoDP-2|TCP-1-zeta|TCP20|TCPZ|TTCP20 T-complex protein 1 subunit zeta|T-complex protein 1, zeta subunit|acute morphine dependence related protein 2|acute morphine dependence-related protein 2|amino acid transport defect-complementing|chaperonin containing T-complex subunit 6|histidine transport regulator 3 protein-coding 1345746 CCT6B chaperonin containing TCP1, subunit 6B (zeta 2) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 8812458,16415341,15489334,15342556,12477932,9373149,9013858,8125298,16344560,18782753,20193073 10693 AK302344,BC026125,BC027591,BI825786,BI826129,BP368876,CR933688,D78333,NM_006584,AC022903,CH471147,AK225728,AK225729,AK301773,DB024533,DB032371,NM_001193529,NM_001193530 BAG63232,BAG63672,AAH26125,AAH27591,CAI45976,BAA11347,Q5H9P8,Q92526,NP_006575,EAW80201,NP_001180458,NP_001180459 Hs.73072 CCT-zeta-2|CCTZ-2|Cctz2|TCP-1-zeta-2|TSA303 CCT-zeta-like|T-complex protein 1 subunit zeta-2|T-complex protein 1, zeta-2 subunit|TCP-1-zeta-like|testis-specific Tcp20|testis-specific protein TSA303 protein-coding 1601895 CCT6P1 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1 14702039,12477932,9847074,20193073 643253 NR_003110,AC073107,AK092180,BC052238,BC073761,BC119782,BC122874 Hs.488399 CCT6-5P|CCT6AP1|DKFZp779B0634 pseudo 2837780 CCT6P2 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 2 20193073 391739 NG_016581,AC010627 CCT6-1P pseudo 2974960 CCT6P3 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 12477932,20193073,9847074 643180 AC073210,BC071617,BX649060,NR_033416 Hs.510847 CCT6-3P|DKFZp779B0634 pseudo 3028800 CCT6P4 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 4 20193073 100130481 AC079863,CH471052,NG_016479 EAW78098 CCT6-4P pseudo 4144711 CCT6P5 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 5 11237011,15496913,16554811,20193073 100463286 AP003102,NG_023057 CCT6-2P pseudo 1315027 CCT7 chaperonin containing TCP1, subunit 7 (eta) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only two of them have been characterized to date. [provided by RefSeq] 1580863 9819444,16236267,16169070,15815621,15489334,15347653,14532270,12477932,11591653,11532003,9373149,9250675,8982604,8125298,16497536,20562859,16085932,18029348,18715871,18775504,18782753,19615732,20193073,20877624 10574 NM_006429,NM_001009570,AC010913,CH471053,AF026292,AI571508,AK098549,AK098825,AK222478,AK291961,BC019296,BC088351,BM558355,BM918058,CR456719,CR536511,CR590638,CR590640,CR596863,CR597416,CR598786,CR599224,CR599553,CR600066,CR600150,CR600434,CR602206,CR602707,CR603241,CR603373,CR604475,CR605153,CR605603,CR607331,CR608380,CR608432,CR609346,CR610356,CR610859,CR611339,CR612396,CR613435,CR616326,CR617211,CR619505,CR620033,CR620470,CR620671,CR621241,CR622168,CR622512,CR624089,CR626428,U83843,AK293175,AK293597,AK297846,AK298153,AK302078,CX781741,DC362157,DC395264,NM_001166284,NM_001166285,NR_029402,NR_029403 NP_006420,NP_001009570,AAX88902,EAW99738,EAW99739,EAW99740,AAC96011,BAD96198,BAF84650,AAH19296,AAH88351,CAG33000,CAG38749,AAB41437,Q53HV2,Q6IBT3,Q99832,ABM84390,ABM87333,BAH11465,BAH11543,BAH12675,BAH12733,BAH13620,NP_001159756,NP_001159757 Hs.368149 CCT-ETA|CCTETA|CCTH|Ccth|MGC110985|NIP7-1|Nip7-1|TCP-1-eta|TCP1ETA CCT-eta|HIV-1 Nef interacting protein|HIV-1 Nef-interacting protein|OTTHUMP00000202322|T-complex protein 1 subunit eta|TCP-1-eta|chaperonin containing t-complex polypeptide 1, eta subunit protein-coding 3322380 CCT7P1 chaperonin containing TCP1, subunit 7 (eta) pseudogene 1 20193073 442267 AL355312,NG_013108 CCT7-2P|FLJ13465 pseudo 2301496 CCT7P2 chaperonin containing TCP1, subunit 7 (eta) pseudogene 2 11181995,20193073 100288772 NG_008698,AC008517,CH471084 EAW96001 CCT7-1P pseudo 1313488 CCT8 chaperonin containing TCP1, subunit 8 (theta) 1580863 7890169,16780588,16916647,16021519,15592455,15489334,14532270,12477932,11532003,10830953,10748209,10508479,9373149,8590283,8125298,7584028,7584026,18782753,16085932,17643375,18029348,18775504,20193073,16497536 10694 AF129075,NM_006585,AL163249,CH471079,D42052,AK222490,AK293705,AK298801,AK308063,BC005220,BC012584,BC035472,BC072001,BC095470,BU932439,CR590648,CR594631,CR595879,CR597602,CR600309,CR604257,CR605731,CR609081,CR612497,CR612834,CR617595,CR619682,D13627,Z37163 NP_006576,CAB90433,EAX09924,EAX09925,EAX09926,BAA07652,BAD96210,BAG57138,BAG60936,AAH12584,AAH72001,AAH95470,BAA02792,CAA85520,P50990,Q53HU0,Q7Z759 Hs.125113 C21orf112|Cctq|D21S246|KIAA0002|PRED71 CCT-theta|OTTHUMP00000096462|OTTHUMP00000096464|T-complex protein 1 subunit theta|T-complex protein 1, theta subunit|TCP-1-theta|renal carcinoma antigen NY-REN-15 protein-coding 1605860 CCT8L1 chaperonin containing TCP1, subunit 8 (theta)-like 1 20193073,12853948 155100 NG_012242,AC005631,CH471173 EAW53969,A6NM43 pseudo 1605278 CCT8L2 chaperonin containing TCP1, subunit 8 (theta)-like 2 15461802,12477932,10585773,20193073 150160 NM_014406,AP000365,AP000547,AP003553,CH471193,BC022006,BC033797,BC100811,BC100812,BC100813,BC139842,CR456508,HC006880 NP_055221,BAA84680,BAB43952,EAW57714,AAH33797,AAI00812,AAI00813,AAI00814,AAI39843,CAG30394,Q96SF2,AAI39927,ABM83008,ABM86201,CBH19245,ACT64544,ACT64545 Hs.128342 CESK1|MGC118839|MGC118840 T-complex protein 1|putative T-complex protein 1 subunit theta-like 2 protein-coding 3539802 CCT8P1 chaperonin containing TCP1, subunit 8 (theta) pseudogene 1 11237011,15496913,16710414,20193073 644131 AL356378,CR590156,NG_016732 Hs.668082 CCT8-1P pseudo 1345429 CCV cataract, congenital, Volkmann type 7607651 7792 1322663 CD109 CD109 molecule This gene encodes a member of the alpha2-macroglobulin/complement superfamily. The encoded GPI-linked glycoprotein is found on the cell surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signaling of transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. 19016750,18519826,17922683,17611685,17493171,16959974,16754747,16344560,16335952,16263699,15826242,15569238,15342556,14980714,14702039,14574404,12799300,11861285,11861284,10972910,8889548,2346781,1984805,20946523,20667040,19570064,19898481,19948007,20101215,20379614 135228 NM_133493,NM_001159587,NM_001159588,AF410460,AL590428,AL591480,AY736553,AY736554,AY736555,AY736556,AY736557,AY736558,CH471051,AF410459,AK095888,AK123960,AK130104,AK313636,AL110152,AL834478,AY149920,AY374441,AY374442,AY788891,BM722643,BP279681,BP351448,BX107999,BX641095,BX646244,CB529476,CB853216,CR599670,DA720168,DB280225,EF553520,AL596449 NP_598000,NP_001153059,NP_001153060,AAL84160,CAI15636,AAU94640,AAU94641,AAU94642,AAU94643,AAU94644,AAU94645,EAW48752,EAW48753,EAW48754,EAW48755,AAL84159,BAC04642,BAG53987,BAG36395,CAD39137,AAN78483,AAX14639,CAE46045,ABQ66266,Q5XUM6,Q5XUM8,Q5XUN0,Q5XUN1,Q6YHK3,AAI48365,AAI52997 Hs.399891 CPAMD7|DKFZp762L1111|FLJ38569|FLJ41966|RP11-525G3.1 150 kDa TGF-beta-1-binding protein|C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7|CD109 antigen|Gov platelet alloantigens|activated T-cell marker CD109|p180|platelet-specific Gov antigen|r150 protein-coding 1347263 CD14 CD14 molecule CD14 is a surface protein preferentially expressed on monocytes/macrophages. It binds lipopolysaccharide binding protein and recently has been shown to bind apoptotic cells. Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq] 2314152,2314154,2314155,2314173,2314179,2314175,2314156,1580252,1580255,1580863,1580257,724637,4144796,4144197,4144208,4144143,4144784,4144205,4144789,4144210,4144780,4144788,4144795,4144798,4144228,4144810,4144156,4144782,4144813,4144814,4144815,4144794,4144809 2402637,8798531,9548256,9665271,19605672,19595045,19559392,19536153,19527514,19522765,19508433,19500269,19479237,19447482,19433913,19420105,19365146,19361972,19346955,19337058,19326213,19318422,19275920,19264973,19263529,19258923,19254290,19247692,20587312,20703737,21039068,21048031,21052690,21079949,20555320,20660791,21041645,21084593,20219985,20113368,20364047,20430725,20832340,16509825,16492974,16473828,16467036,16446545,16444757,16443672,16437636,16433727,16427140,16409569,16387800,16386288,16385250,16381901,16368002,16344560,16337421,16335952,16331574,16292464,16290232,16283111,16275943,16273622,16273620,16266379,16246938,16239565,16194368,16174099,16174094,16165702,16159630,16148556,16142747,16137548,16109674,16101942,16085746,16061600,16051275,16046876,16038043,15975149,15966209,15946916,15940135,15932345,15879416,15867866,15854776,15842262,15778383,15777548,15764151,15753758,15741437,15714129,15686783,15670766,15655821,15647432,15640605,15619435,15602630,15599151,15591473,15558232,15520404,19242719,19225544,19222419,19210273,19200604,19189651,19148143,19131662,19096003,19060757,19046305,19037967,19028820,19027777,19019335,19010986,19006850,18991094,18987746,18974842,18974840,18951711,18938271,18931892,18818748,18810425,18794053,18774388,18767926,18728522,18714537,18691306,18676680,18666712,18664531,18634146,18606699,18596635,18580477,18580445,18571004,18565258,18519568,18497880,18496988,18495781,18458151,18426570,18425216,18417506,18415752,18414664,18385826,18354240,18320914,18315435,18312481,18288274,18182917,18180796,18180316,18174680,18158110,18157711,18067042,18057002,18056918,18040078,18008256,17982638,17949800,17943182,17934216,17925604,17919709,17916440,17913858,17900622,17877801,17877764,17869646,17846597,17802898,17703412,17653770,17617027,17607003,17600225,17565650,17515856,17511783,17471431,17456337,17448042,17438094,17436151,17309585,17304102,17274987,17264400,17259806,17217435,17207357,17205552,17201240,17196641,17187267,17126402,17098305,17087609,17086894,17075287,17067484,17062130,17056323,17052752,17046070,17030237,17007028,17003960,16950521,16950285,16933467,16916546,16893989,16890863,16879054,16873708,16860318,16848791,16815140,16785528,16751411,16749413,16706818,16698680,16625214,16614348,16611358,16552356,16538169,16520888,15516360,15491315,15489336,15489334,15378299,15373760,15369724,15358661,15356557,15292769,15273551,15269840,15257175,15207785,15190267,15175649,15166925,15164100,15143473,15132789,15120158,15116260,15081257,15080833,15069085,15039096,15034063,14996480,14739370,14720421,14706103,14673018,14672339,14648231,14624155,14617510,14587643,14517520,14517492,14510720,14508193,14500479,12960274,12942028,12940436,12938192,12911501,12897754,12885845,12853157,12832426,12825176,12757265,12756848,12754215,12731067,12700637,12679473,12663765,12624278,12594207,12580907,12566518,12492251,12477932,12450609,12438323,12417309,12410798,12404174,12324469,12207338,12196527,12185442,12174084,12171914,12140663,12126249,12117913,12106839,12103253,12101079,12082592,12075251,12067299,12011764,12006789,11985523,11935032,11932927,11876746,11854210,11843056,11841490,11825494,11810121,11779220,11745332,11732288,11489942,11343243,11282774,11257272,11199329,11145656,11083760,11076863,11062291,10575214,10395652,9655682,9562334,9142045,7583357,3385210,2779588,2472171,2462937,2453848,2448876,12414752,20618347,15342556,16512634,16836908,19170196,19360901,19390489,19423540,19466271,19468702,19550115,19578796,19584052,19625176,19674346,19692168,19701968,19729601,19733948,19741468,19758335,19761511,19795323,19799036,19809507,19822036,19824106,19829130,19830784,19845895,19847953,19860589,19892918,19928913,19948975,19997857,20039305,20085599,20092898,20109306,20109750,20163933,20207250,20227257,20302606,20346360,20363151,20377740,20381257,20384875,20394509,20395963,20398919,20406964,20430603,20438785,20452482,20463618,20472613,20503287,20536280,20472010,20532808,19913121,20485444,20536507,20579716,20603037,20608916,20628086,20673868,20677014,20723409,20730440,20826579 2314152,2314154,2314155,2314173,2314179,2314175,2314156,1580252,1580255,1580257,724637,4144796,4144197,4144208,4144143,4144784,4144205,4144789,4144210,4144780,4144788,4144795,4144798,4144228,4144810,4144156,4144782,4144813,4144814,4144815,4144794,4144809 929 NM_001040021,NM_000591,AC116353,CH471062,X06882,AB446505,AF097942,AK313277,AY044269,BC010507,BT007331,CR590334,CR590355,CR590525,CR591451,CR593752,CR594268,CR595571,CR598974,CR600557,CR600702,CR601474,CR602302,CR603280,CR603424,CR605705,CR609600,CR610580,CR610684,CR612020,CR613552,CR614015,CR614726,CR616071,CR616612,CR617446,CR620138,CR620234,CR620555,CR626311,CR626579,DA681405,M86511,X13334,BP300412,CF593452,DA269805,DA426297,NG_023178,NM_001174104,NM_001174105,W74441 NP_001035110,NP_000582,EAW62037,CAA29999,BAG55282,AAC83816,BAG36085,AAL02401,AAH10507,AAP35995,AAA51930,CAA31711,P08571,CAL37570,CAL37702,CAL38264,CAL38573,NP_001167575,NP_001167576 Hs.163867,Hs.638333 OTTHUMP00000223710|OTTHUMP00000223711|cd14 antigen|monocyte differentiation antigen CD14|myeloid cell-specific leucine-rich glycoprotein protein-coding 733300 CD151 CD151 molecule (Raph blood group) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq] 1580863 15226180,12579280,12477932,12456024,11907260,11884516,11809818,11774285,11739647,11337467,11278880,11181065,10811835,10447000,10229664,10036233,9373149,9111230,9070943,8125298,7632941,1958484,12775420,18713730,12175627,10734060,10741407,15492270,20578262,14676841,9602068,8627808,19330835,19159612,19065669,18997004,18852263,18663148,18508921,18492066,18451146,18328426,18000614,17716972,17632541,17265493,17009258,16798740,16571677,16490193,16297202,16139245,15677332,15591117,15489334,15265795,12802069,16200075,16757171,19509057,19531562,19740096,20149781,20581856,20937830 977 NM_139030,NM_139029,NM_001039490,NG_007478,AF315942,AP006621,AP006623,CH471158,DQ074789,AK130369,AK223186,AK293073,AL161965,AU099249,BC001374,BC013302,BQ957432,BT007397,BT020132,CR456826,CR542098,D29963,U14650,NM_004357 NP_004348,NP_620599,NP_620598,NP_001034579,AAK14179,EAX02400,EAX02401,EAX02402,EAX02403,EAX02404,EAX02405,EAX02406,EAX02407,AAY68211,BAC85335,BAD96906,BAF85762,AAH01374,AAH13302,AAP36061,AAV38934,CAG33107,CAG46895,BAA06229,AAA87064,P48509,Q53FU5,Q6ZNZ0,ABM84596,ABM86743 Hs.654379 GP27|MER2|PETA-3|RAPH|SFA1|TSPAN24 CD151 antigen|CD151 antigen (Raph blood group)|cd151 antigen|hemidesmosomal tetraspanin CD151|membrane glycoprotein SFA-1|platelet surface glycoprotein gp27|platelet-endothelial cell tetraspan antigen 3|platelet-endothelial tetraspan antigen 3|tetraspanin-24|tspan-24 protein-coding 1342532 CD160 CD160 molecule CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq] 1580863 12477932,15494480,9973372,9743336,19109136,18193050,17237375,17218942,15489334,15073036,11978774,8090781,19626042,20164468,20237496 11126 AL390725,NM_007053,CH471244,AA463248,AF060981,AI241015,AK128370,BC014465,CR541867,CR541888,EU016100 NP_008984,CAI13713,CAI13714,EAW71440,AAC72302,AAH14465,CAG46665,CAG46686,ABV89736,O95971,Q6FH89,ABM83981,ABM87303 Hs.488237 BY55|FLJ46513|NK1|NK28 CD160 antigen|CD160 transmembrane isoform|OTTHUMP00000015585|cd160 antigen|natural killer cell receptor BY55|natural killer cell receptor, immunoglobulin superfamily member protein-coding 1321258 CD163 CD163 molecule 20139978,15479433,8370408,19131549,18849484,18604302,18563533,18542032,18410276,18320015,18316565,18078989,17947394,17629586,17548657,17525367,17460152,17117055,17102136,17095719,16522161,16434690,16335952,16189277,15846794,15624762,15613100,15489334,15478309,15448162,15146432,15075364,14962251,14656926,12477932,12377940,12296867,12208511,12115225,11865982,11854028,11688984,11334962,11298324,11196644,11124526,10648003,10577520,10403791,10066432,9373149,8125298,16507898,16517975,18276779,19040468,19473660,19528371,19582880,19885719,19910578,19961729,20237496,20299688,20379614,20472850 9332 Z22971,NM_203416,AC131206,CH471116,Y18388,AA962842,AI128043,AK226017,BC051281,DQ058615,Z22968,Z22969,Z22970,NM_004244 CAA80544,Q86VB7,NP_004235,NP_981961,EAW88662,EAW88663,EAW88664,EAW88665,EAW88666,CAB45233,AAH51281,AAY99762,CAA80541,CAA80542,CAA80543 Hs.504641 M130|MM130 CD163 antigen|cd163 antigen|hemoglobin scavenger receptor|macrophage-associated antigen|scavenger receptor cysteine-rich type 1 protein M130 protein-coding 1603525 CD163L1 CD163 molecule-like 1 This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. 16344560,15340161,12975309,12477932,11124526,11086079,20032174,20237496,20379614 283316 NM_174941,AC131205,AC131206,AC131207,CH471116,AF264014,AK058038,BC104962,BC104964,BQ024006,DA851620,DB145231,AK303372,GQ397482 NP_777601,EAW88667,EAW88668,AAF91396,AAI04963,AAI04965,Q2M3B7,Q9NR16,ADB45259,BAG64429 Hs.631727 CD163B|M160 CD163 antigen B|CD163 antigen-like 1|scavenger receptor cysteine-rich type 1 protein M160 protein-coding 736961 CD164 CD164 molecule, sialomucin Sialomucins are a heterogeneous group of secreted or membrane-associated mucins that appear to play 2 key but opposing roles in vivo: first as cytoprotective or antiadhesive agents, and second as adhesion receptors. CD164 is a type I integral transmembrane sialomucin that functions as an adhesion receptor (Watt et al., 1998 [PubMed 9680353]; Forde et al., 2007 [PubMed 17077324]).[supplied by OMIM] 1580863 10491205,9763543,9680353,18391951,18029348,17077324,16924678,16859559,16341674,15916720,14574404,12477932,11862985,11027692,10878358,8889548,1478919,19862010,20139978 8763 NM_001142402,NM_006016,NM_001142404,NM_001142403,AF299340,AL359711,CH471051,AF106518,AF263279,NM_001142401,AF299341,AF299342,AF299343,AK298684,AK301692,AK303525,AK308664,AK310854,AK312357,AK315908,BC011522,BC037914,BC040317,BM668503,BM817924,BM830140,CR622213,D14043,DC403839,EB388947 AAF85965,AAG53906,NP_001135873,NP_001135874,NP_006007,NP_001135876,NP_001135875,AAG53903,AAG53904,AAG53905,CAI40700,CAI40702,CAI40703,CAI40704,EAW48348,EAW48349,EAW48350,EAW48351,EAW48352,EAW48353,EAW48354,EAW48355,AAC82473,AAG53907,AAG53908,BAG60847,BAG63164,BAG64553,BAG35275,BAH14279,AAH11522,BAA03130,Q04900,ABM81960,ABM85139 Hs.520313,Hs.644693 MGC-24|MUC-24|endolyn CD164 antigen, sialomucin|MGC-24v|OTTHUMP00000220522|cd164 antigen|multi-glycosylated core protein 24|sialomucin core protein 24 protein-coding 1603478 CD164L2 CD164 sialomucin-like 2 16710414,16344560,15340161,12975309,12477932 388611 NM_207397,AL096774,CH471059,AY358761,BC137466,BM145910,DB231017 NP_997280,CAI19568,CAI19569,CAI19570,EAX07755,AAQ89121,AAI37467,Q6UWJ8 Hs.664836 UNQ6122 CD164 sialomucin-like 2 protein|EAPG6122|OTTHUMP00000003472 protein-coding 1603627 CD177 CD177 molecule NB1, a glycosyl-phosphatidylinositol (GPI)-linked N-glycosylated cell surface glycoprotein, was first described in a case of neonatal alloimmune neutropenia (Lalezari et al., 1971 [PubMed 5552408]).[supplied by OMIM] 19185066,18854317,18156711,17980909,17976520,17580308,17244676,16682284,16502591,11846455,11465086,10753836,9373149,8301201,8125298,5552408,1382544,16189514,20491791,15985544,12010833,15951300,15572213,15489334,15340161,15043575,14701686,14692971,12975309,12901344,12756017,12623849,12617169,12591276,12477932,12377969,12239154,15862967,19695014,19999391,20194726 57126 NM_020406,AC005392,AB237911,AF146747,AJ290452,AJ305326,AJ310433,AK225226,AK290965,AY358932,BC029167,BT020111,CR592446,CR608112,AM884905 NP_065139,BAE93254,AAG00895,CAC44459,CAC83758,CAC83724,BAF83654,AAQ89291,AAH29167,AAV38914,Q1T7A3,Q8N6Q3,ABM82971,ABM86165,CAP05216 Hs.232165 HNA2A|NB1|PRV1 CD177 antigen|HNA-2a|NB1 GP|NB1 glycoprotein|PRV-1|cell surface receptor|human neutrophil alloantigen 2a|polycythemia rubra vera 1|polycythemia rubra vera protein 1 protein-coding 2299188 CD177P CD177 molecule pseudogene 11846455 653579 NG_005616,AC005392 CD177P pseudo 1317791 CD180 CD180 molecule CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq] 1580863 17448566,8975706,15852007,15489334,15342556,15340161,12539042,12477932,9763566,9686597,20430725,19423540,20133206,20237496,20331378,20379614,20406964,20438785,20233331,21048031 4064 NM_005582,AC026445,CH471137,AK313177,AL544501,AL570708,AW512119,BC109069,BC109070,BP344300,CR601140,D83597 NP_005573,EAW51318,BAG35994,AAI09070,AAI09071,BAA12019,Q99467 Hs.87205 LY64|Ly78|MGC126233|MGC126234|RP105 CD180 antigen|lymphocyte antigen 64|lymphocyte antigen 64 homolog, radioprotective 105kda (mouse)|lymphocyte antigen-64, radioprotective, 105kDa|radioprotective 105 kDa protein protein-coding 1319228 CD19 CD19 molecule Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq] 1580863 7636191,15187135,15144712,14607925,12477932,12387743,12215898,12002767,11120811,11080163,10933394,10706702,10201980,9804823,9694255,9648915,9178909,9120258,7589101,7568175,7528218,7513297,2459292,1702139,1383329,1375324,1370948,8647200,1373518,1714482,2472450,19421221,19001137,18671252,18495958,18333845,18174230,18051214,17882224,17493148,17327405,16672701,16430962,16430470,16352804,16344560,15593213,15549146,15489334,19454653,19561539,19574428,19828092,19882758,20022378,20164433,20208555,20237408,20237496,20377416,20726320,21102463 930 NM_001770,NG_007275,AB052799,AC109460,AF045018,CH471267,M62550,M84371,AK130657,AK301167,AK301363,AK304456,AK307295,AK313577,BC006338,BC052294,DA959905,M21097,X13312,AA760729,NM_001178098 NP_001761,BAB60954,AAD02340,EAW52008,EAW52009,EAW52010,EAW52011,EAW52012,EAW52013,AAB60697,AAA69966,BAC85403,BAG62756,BAG62907,BAG65273,AAH06338,AAA35533,P15391,Q6ZNU2,Q71UW0,ABM83942,ABM87260,NP_001171569 Hs.652262 B4|CVID3|MGC12802 B-lymphocyte antigen CD19|B-lymphocyte surface antigen B4|T-cell surface antigen Leu-12|cd19 antigen|differentiation antigen CD19 protein-coding 1351549 CD1A CD1a molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq] 1580863 2447586,19321495,18838176,18624350,18337829,18337560,19317050,2478463,18287231,18251780,18184269,18178838,17652534,17428545,17197902,17082618,16820217,16670277,16598657,16344560,16272286,16208376,15864273,15756258,15749918,15723809,15556687,15099564,15032598,14991068,14739458,12925210,12833155,12477932,12415264,11580851,10963609,10626896,10488738,8729450,7517559,3097645,3093894,3053166,2784820,2701945,2583117,1301170,17077296,16454711,15262497,20954848,20592474,19257981,19426597,19605355,19952356,20026739,20237496 909 NM_001763,AF142665,AL121986,CH471121,M14663,M22080,M22163,M22164,M22165,M22166,M22167,AK312945,BC031645,CA432941,CR603267,DB108750,M27735,M28825,X04450 NP_001754,AAD37578,CAI10848,EAW52843,EAW52844,AAA51934,AAA51932,BAG35786,AAH31645,AAA51933,AAA51931,CAA28049,P06126,Q8N5T0,ABM82272,ABM85452 Hs.1309 CD1|FCB6|HTA1|R4|T6 CD1A antigen, a polypeptide|T-cell surface antigen T6/Leu-6|T-cell surface glycoprotein CD1a|cd1a antigen, a polypeptide|cluster of differentiation 1 A|cortical thymocyte antigen CD1A|differentiation antigen CD1-alpha-3|epidermal dendritic cell marker CD1a|hTa1 thymocyte antigen protein-coding 1348815 CD1B CD1b molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq] 1580863 12118248,2447586,2701945,19004781,18624350,18538591,18337560,18287231,16874306,16794581,16710414,16272286,15880118,15864273,15556687,15489334,15032598,14764708,14716313,14551186,12477932,12415264,12049721,11938350,11847129,11580851,11160317,11035089,10899914,10626896,10488738,8729450,7542404,7527500,3097645,2583117,19454700,19808251,19948070,20237496,17207965 910 BC069481,BC074747,BC104216,BC104217,CD687240,CR601779,M28826,AK310617,NM_001764,AF142666,AL121986,CH471121,M14665,M22168,M22169,M22170,M22171,M22172,M22173,AI336342,AK303330,AK303329 AAH69481,AAH74747,AAI04217,AAI04218,AAA51939,P29016,Q9UN97,NP_001755,AAD37579,CAI10852,CAI10853,EAW52841,AAA51936,AAA51940,BAG64395,BAG64394,ADQ32930 Hs.1310 CD1|CD1A|MGC125990|MGC125991|R1 CD1B antigen, b polypeptide|OTTHUMP00000035065|T-cell surface glycoprotein CD1b|cortical thymocyte antigen CD1B|differentiation antigen CD1-alpha-3 protein-coding 1344711 CD1C CD1c molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq] 1580863 1702817,2447586,2701945,19468063,18624350,18337560,18287231,16710414,16272286,15749918,15611286,15556687,15489334,15032598,14551186,12486100,12477932,12454749,12415264,11580851,11145857,10899914,10890914,10786796,10626896,10488738,9373149,8729450,8125298,7517559,3097645,2583117,19828201,20237496,20888334 911 AF142667,NM_001765,AL121986,CH471121,M14667,M18232,M22174,M22175,M22176,M22177,M22178,AA824381,AK226024,AK298234,AK310710,BC126465,BC126467,CR457080,CR615066,M28827,X79311 AAD37580,NP_001756,CAI10850,CAI10851,EAW52842,AAA51938,AAA51942,BAG60503,AAI26466,AAI26468,CAG33361,AAA51941,P29017,ADR83360,ADR82954 Hs.132448 BDCA1|CD1|CD1A|R7 CD1C antigen, c polypeptide|OTTHUMP00000035066|T-cell surface glycoprotein CD1c|cd1c antigen, c polypeptide|cortical thymocyte antigen CD1C|differentiation antigen CD1-alpha-3 protein-coding 1353762 CD1D CD1d molecule This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. [provided by RefSeq] 1580863 20530791,19651460,20368272,11315191,19446558,19415116,19124746,19056691,18713998,18684921,18535199,18458073,18433720,18385757,18378792,18337560,18253929,18068183,17726154,17581592,17476670,17475845,17372201,17363727,17071611,17071498,17015708,16820217,16818729,16710414,16675349,16517731,16456021,16178273,16148122,16091469,16007090,15916790,15665086,15654963,15489334,15345586,15265953,15243159,15187105,15128771,15100293,15032598,14500461,10523605,14716312,14551186,14530337,12952923,12730881,12618910,12477932,12454749,12415264,12368486,12239218,12133957,11968185,11927549,11777966,11754812,11580851,11257307,11006091,10488738,10473580,10221650,9601940,9374463,9373149,8729450,8125298,7517575,3097645,2583117,2467814,2463622,1717564,15790518,16454711,16385629,19454494,19592659,19637196,19724888,19734232,19757161,19830742,20080535,20237496,20520738,20810727,20861015 912 NM_001766,AF142668,AL138899,CH471121,L38816,L38817,L38818,L38819,L38820,M14664,X14974,AK225996,AK310749,BC027926,BX106524,CR615787,J04142 NP_001757,AAD37581,CAH73515,EAW52847,EAW52848,EAW52849,AAA59672,AAA51935,CAA33099,AAH27926,AAA59673,P15813 Hs.1799 CD1A|MGC34622|R3 CD1D antigen, d polypeptide|HMC class I antigen-like glycoprotein CD1D|R3G1|T-cell surface glycoprotein CD1d|antigen-presenting glycoprotein CD1d|cd1d antigen, d polypeptide|differentiation antigen CD1-alpha-3|thymocyte antigen CD1D protein-coding 1352820 CD1E CD1e molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Several alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq] 1580863 2467814,19196239,18838176,18325888,18208508,17428545,16820217,16344560,16311334,15752135,15032598,12671734,12144626,11580851,11019917,10948205,10488738,7566098,3097645,3053166,2583117,20954848,12477932 913 NM_001042583,NM_001042584,NM_001042585,NM_001042586,NM_030893,NM_001042587,AF142669,AF364031,AF364032,AF364033,AF364034,AJ251334,AJ251335,AL121986,AJ289115,AJ289116,AJ289117,AJ289118,AJ289119,AJ289120,AJ289121,AJ289122,AK303088,AK303108,AK303217,AK303542,AK311643,BC131693,CR598515,CR608653,CR611169,DA827206,X79517,X79518,X79519,NM_001185107,NM_001185115,CH471121,M14666,X14975,AA283335,AA354546,AJ289111,AJ289112,AJ289113,AJ289114,AK310567,DC406237,NM_001185108,NM_001185110,NM_001185112,NM_001185113,NM_001185114 NP_112155,NP_001036048,NP_001036049,NP_001036050,NP_001036051,NP_001036052,AAD37582,AAK52913,AAK52914,CAB82829,CAC07175,CAI10854,CAI10855,CAI10856,CAI10857,CAI10858,CAI10859,CAI10860,CAI10861,CAI10862,CAI10863,CAB93154,CAB93155,CAB93156,CAB93157,CAB93158,CAB93159,CAB93160,CAB93161,BAG64199,BAG64215,BAG64304,BAG64568,AAI31694,CAA56053,CAA56054,CAA56055,P15812,Q13973,Q13974,Q13975,Q5TDL4,NP_001172036,NP_001172044,CAI10865,CAI10866,EAW52828,EAW52829,EAW52830,EAW52831,EAW52832,EAW52833,EAW52834,EAW52835,EAW52836,EAW52837,EAW52838,EAW52839,EAW52840,AAA51937,CAA33100,CAB93150,CAB93151,CAB93152,CAB93153,CAI10864,NP_001172037,NP_001172039,NP_001172041,NP_001172042,NP_001172043 Hs.249217 CD1A|FLJ17609|R2 CD1E antigen, e polypeptide|OTTHUMP00000018911|OTTHUMP00000018921|R2G1|T-cell surface glycoprotein CD1e, membrane-associated|cd1e antigen, e polypeptide|differentiation antigen CD1-alpha-3|hCD1e|leukocyte differentiation antigen|thymocyte antigen CD1E protein-coding 10305 CD2 CD2 molecule 1580863 21048031,1970422,7544493,12356317,2471997,10575274,9270771,11376005,11591762,12714509,11544295,19494291,19237575,19109405,18431797,18318997,17168569,17085486,16803907,16710414,15528362,15489334,12731040,12690097,12530983,12477932,12426371,12369898,12032326,11932928,11602341,11575926,11090067,10722370,10642604,10510361,10404223,10380930,9857189,9843987,9743208,9741631,9677430,9373149,8977276,8809126,8551220,8125298,7994575,7933095,7915183,7686927,7539755,7517794,3490670,2901953,2894031,2883656,2444890,2437578,2111780,1976695,1385321,1377404,1351089,1346273,1832084,9475352,7589092,11152963,12618476,16000308,16049493,19502238,19586919,19898481 914 HH979251,AL135798,CH471122,CS278858,M19806,X07871,AK127925,AK223393,AK301154,AK303367,AK310676,AK313614,BC033583,CR608242,M14362,M16336,M16445,NM_001767 CBX51829,NP_001758,CAC14840,CAI22206,EAW56661,CAJ86523,AAA53095,CAA30721,BAD97113,BAG62744,BAG64425,BAG36377,AAH33583,AAA35571,AAA51946,AAA51738,P06729,Q53F96,Q5JVN7,ABM81879,ABM85041 Hs.523500 FLJ46032|SRBC|T11 CD2 antigen (p50), sheep red blood cell receptor|LFA-2|LFA-3 receptor|T-cell surface antigen CD2|T-cell surface antigen T11/Leu-5|cd2 antigen|erythrocyte receptor|lymphocyte-function antigen-2|rosette receptor protein-coding 1606033 CD200 CD200 molecule The protein encoded by this gene is a type-1 membrane glycoprotein, which contains two immunoglobulin domains, and thus belongs to the immunoglobulin superfamily. Studies of the related genes in mouse and rat suggest that this gene may regulate myeloid cell activity and delivers an inhibitory signal for the macrophage lineage in diverse tissues. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq] 20959655,19230971,19151626,19086995,18946351,18838168,18164423,18060862,18060403,18040859,18008004,17964286,16354172,16344560,16303743,16177086,15955564,15699757,15489334,12477932,11726033,11260322,11099416,2902568,12960329,10981966,3032785,19386363,20375636,20050020,20379614,20442224,21164290 4345 CR611430,CR619562,CR620294,CR621717,DA544134,NM_005944,AC112487,CH471052,CQ783788,X05323,X05324,X05325,X05326,AF063591,AK074972,AK129797,AK293399,AK297194,AK312563,AL832529,AW294653,AY603771,BC022522,BC031103,BI547787,CR590097,CR593426,CR596077,NM_001004196 P41217,ABM83294,ABM86503,ACE87345,NP_001004196,NP_005935,EAW79672,EAW79673,EAW79674,EAW79675,EAW79676,CAF86862,CAA28943,AAG43150,BAG52043,BAG56907,BAG59681,AAT37533,AAH22522,AAH31103 Hs.79015 MOX1|MOX2|MRC|OX-2 CD200 antigen|MRC OX-2 antigen|OTTHUMP00000214502|OX-2 membrane glycoprotein|antigen identified by monoclonal antibody MRC OX-2 protein-coding 1606724 CD200R1 CD200 receptor 1 This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 19924532,19151626,18164423,18040859,17714785,16354172,16177086,15661892,15340161,15220441,15070969,12975309,12960329,12853143,12477932,11133863,10981966,17207965,19786546 131450 NM_170780,NM_138806,NM_138940,NM_138939,AC074044,CH471052,AF283760,AF495380,AF497548,AF497549,AF497550,AK126349,AK293071,AK304426,AY284975,AY358910,BC069661,BC069721,BC069743,BC093890,BC143393 AAH93890,NP_740750,NP_620161,NP_620386,NP_620385,EAW79657,EAW79658,EAW79659,EAW79660,EAW79661,AAN61171,AAM14622,AAM16157,AAM16158,AAM16159,BAG54311,BAF85760,BAG65254,AAQ19772,AAQ89269,AAH69661,AAH69721,AAH69743,AAI43394,Q8TD46,ADQ31913 Hs.309158 CD200R|HCRTR2|MOX2R|OX2R CD200 cell surface glycoprotein receptor|MOX2 receptor|OTTHUMP00000214753|cell surface glycoprotein CD200 receptor 1|cell surface glycoprotein OX2 receptor 1|cell surface glycoprotein receptor CD200 protein-coding 1602956 CD200R1L CD200 receptor 1-like 16928187,15471863,12960329,12477932 344807 NM_001008784,AC074044,AC092892,AY284976,AY552790,BC144504,BC144507,NM_001199215 NP_001008784,AAQ19773,AAT00538,Q6Q8B3,AAI72292,NP_001186144 Hs.531814 CD200R2|CD200RLa CD200 cell surface glycoprotein receptor 2|CD200 cell surface glycoprotein receptor-like 2|CD200 cell surface glycoprotein receptor-like a|CD200 receptor 2|CD200 receptor-like 2|OTTHUMP00000214681|cell surface glycoprotein CD200 receptor 1-like|cell surface glycoprotein CD200 receptor 2|cell surface glycoprotein OX2 receptor 2|huCD200R2 protein-coding 1347897 CD207 CD207 molecule, langerin The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. [provided by RefSeq] 1580863 10661407,18322168,18277880,18259063,18061677,17938236,17334373,16567809,15831940,15816828,15489334,15222130,14991068,14610287,12477932,12352970,9847074,17077296,16547227,19426597,19923446,20026605,20097424,20181944,20237496,20713888 50489 NM_015717,AC007395,CH471053,AJ242859,AK314927,BC022278 NP_056532,EAW99793,CAB62403,BAG37434,AAH22278,Q9UJ71,ABM82890,ABM86080 Hs.199731 CLEC4K C-type lectin domain family 4 member K|C-type lectin domain family 4, member K|CD207 antigen, langerin|Langerhans cell specific c-type lectin|cd207 antigen, langerin protein-coding 1320216 CD209 CD209 molecule This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants. 20713631,1518869,11337487,19567623,19386588,19282435,19273246,19264667,19258923,19249311,19237024,19126442,19054934,19046307,18848918,18796707,18775666,18772280,18697825,18510454,18458800,18453604,18424363,18405996,18375037,18354216,18353434,18337829,18337571,18318050,18310320,18292560,18285492,18270264,18255039,18171520,18167547,18155766,18082570,18080533,18078989,18076668,20364151,20406303,19785948,12515819,12515809,12502850,12496255,12477932,12433371,12352970,12239306,12223058,12176900,12122001,12083838,12050398,12050176,12021323,11884427,11859097,11825572,11799181,11799126,11739956,11384997,11257134,11017109,10975799,10721995,10721994,1602151,16547227,17010165,17151103,17077296,16817962,16672549,16611055,16365436,15752559,15709021,15572157,15545354,15518824,15215692,15208262,15043214,14603101,12941144,12797442,12438611,12097593,11745695,11711593,11588046,17182696,17083721,16454711,15638726,12836198,11825573,18073208,18070336,17962491,17940955,17913809,17876530,17715238,17703412,17659761,17611589,17530998,17530994,17509452,17496896,17462920,17202372,17145745,17056872,17055489,17055357,17041212,17005819,17001080,16940507,16883544,16865785,16839201,16807379,16797773,16698431,16641270,16501104,16469696,16424204,16420576,16386217,16379498,16274635,16252244,16246332,16177066,16155001,16099912,16092920,16061998,16051608,15880118,15855154,15845642,15838793,15838506,15728245,15564514,15509576,15494514,15452205,15385553,15371595,15319853,15210758,15184372,15111305,14970226,14963164,14709546,14707095,14576049,14519388,12960240,12960229,12949494,12783086,12692233,12645952,12626400,12598322,12594843,12574325,12571844,16439540,12634366,15254204,20588308,20484510,20359516,18827881,19423540,19426593,19502234,19682628,19692463,19718030,19773555,19803376,19818504,19828628,19833723,19851890,19879650,19892432,19942750,20034698,20080962,20170964,20331378,20406964,20438785,20470843,20503287,19958673,20217198,20630938,20362001,20829290,20864747,20924289,21067616,21081145 30835 NM_001144894,NM_001144893,NM_001144896,NM_021155,NM_001144897,NM_001144895,NM_001144899,NG_012167,AC008763,AC008812,AF209479,CH471139,CQ796864,CS126908,AF290886,NR_026692,AK293089,AK304190,AK308595,AK313585,AY042221,AY042222,AY042223,AY042224,AY042225,AY042226,AY042227,AY042228,AY042229,AY042230,AY042231,AY042232,AY042233,BC110615,M98457 NP_001138366,NP_001138365,NP_001138368,NP_066978,NP_001138369,NP_001138367,NP_001138371,AAG13814,EAW68991,EAW68992,EAW68993,EAW68994,EAW68995,EAW68996,EAW68997,EAW68998,EAW68999,EAW69000,EAW69001,CAG26528,CAJ18838,AAK20997,BAF85778,BAG65070,BAG36354,AAK91846,AAK91847,AAK91848,AAK91849,AAK91850,AAK91851,AAK91852,AAK91853,AAK91854,AAK91855,AAK91856,AAK91857,AAK91858,AAI10616,AAF77072,Q9NNX6 Hs.278694 CDSIGN|CLEC4L|DC-SIGN|DC-SIGN1|MGC129965 C-type lectin domain family 4 member L|C-type lectin domain family 4, member L|CD209 antigen|HIV gpl20-binding protein|cd209 antigen|dendritic cell-specific ICAM-3-grabbing non-integrin 1|dendritic cell-specific intracellular adhesion molecules (ICAM)-3 grabbing non-integrin protein-coding 1323159 CD22 CD22 molecule 1580863 20841423,8627166,8647200,7925291,19150402,18174230,17728258,8702538,8496602,8475064,8463235,8125298,7618087,7537381,1985119,1691828,1401903,12853962,10228003,11356834,19913121,20628086,20726320,17585360,9120258,17562860,17493148,17055225,16806233,16344560,15899772,15668918,15588985,15240561,15133509,15057824,12646615,12477932,11994426,11967116,11882357,11826756,11551923,11215824,10748054,10079291,9890995,9774390,9373149,9143697,19919568,20237496,20172905 933 AK225694,NM_001771,AB012995,AB012996,AB012997,AB012998,AB012999,AB013000,AB013002,AB013003,AB013004,AB013005,AB013006,AB013007,AB253793,AB253794,AB253795,EF064756,S61375,U62631,AK026467,AK225625,AK301177,BC109306,BC109307,DA931592,X52785,X59350,DA989528,DB333800,NM_001185099,NM_001185100,NM_001185101,HC042771 BAF32756,NP_001762,BAA36564,BAA36565,BAA36566,BAA36567,BAA36568,BAA36569,BAA36571,BAA36572,BAA36573,BAA36574,BAA36575,BAA36576,BAF32757,BAF32758,ABK41939,AAC18956,AAB06448,AAB06449,BAB15489,BAH13422,AAI09307,CAA36988,CAA42006,O60926,P20273,Q0EAF5,Q32M46,Q9H5X8,Q9UQB1,Q9UQB2,NP_001172028,NP_001172029,NP_001172030,CBH30554 Hs.579691 FLJ22814|MGC130020|SIGLEC-2|SIGLEC2 B-cell receptor CD22|B-lymphocyte cell adhesion molecule|BL-CAM|CD22 antigen|T-cell surface antigen Leu-14|cd22 antigen|sialic acid binding Ig-like lectin 2|sialic acid-binding Ig-like lectin 2 protein-coding 1323011 CD226 CD226 molecule This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. [provided by RefSeq] 1580863 12913096,20887380,16831868,8673704,16304049,18987646,18971939,18657862,17875681,17554260,16987076,16887814,16388732,16015041,15693793,15661884,15607800,15536144,15489334,15138281,15136589,15039383,14676297,12847109,12477932,10591186,20669283,19380793,19536154,19580844,19624611,19690890,19801517,19820697,19865102,19904767,19951419,20072139,20080650,20089178,20219786,20237496,20338887,20379614,20399620,20444755,20498205,20508602,20613786 10666 NM_006566,AC011930,AC090231,AC091137,CH471117,AJ537553,AK313199,BC074787,U56102 NP_006557,EAW66515,CAD61184,BAG36015,AAH74787,AAC50560,Q15762 Hs.660130 DNAM-1|DNAM1|PTA1|TLiSA1 CD226 antigen|DNAX accessory molecule 1|DNAX accessory molecule-1|T lineage-specific activation antigen 1 antigen|adhesion glycoprotein|platelet and T cell activation antigen 1 protein-coding 736340 CD24 CD24 molecule This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and in many B cells. The encoded protein is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. [provided by RefSeq] 1358462,1580863 7959762,7736776,7553654,1831224,1327504,20199686,19998456,20354454,20491779,20336055,20621328,20619441,8753773,9129046,15633604,11313396,8213086,11272271,16532032,8223854,16390867,2153173,16930538,12496407,10037815,15174142,15493995,19130400,19072375,19050962,19043399,18752058,18632604,18566397,18559090,18495204,18417991,18413748,18404683,18384848,18381780,17980703,17950993,17944116,17900673,17763438,17700640,17540049,17475624,17411341,16900767,16892043,16890615,16681720,16631259,16621031,16288985,16166435,16164042,16125303,15616015,15489334,14702039,14657362,12829373,12610508,12477932,12447971,12368195,12218294,10575223,8928617,20628624,19243896,19610054,19706825,19725119,19786366,19787233,19794958,19860845,19896210,19946098,20019840,20230526,20378664,19906290,21041728,21086907 1358462 100133941 NM_013230,FJ226006,AK026603,AK125531,AL535013,BC064619,BG260536,BT007404,D87667,L33930,M58664,X69397,AADB02010164 NP_037362,ACI46150,AAH64619,AAP36068,AAB58807,AAA35665,CAA49195,P25063,ABM92253,ABM84738 Hs.644105,Hs.721443 CD24A|FLJ22950|FLJ43543|MGC75043 CD24 antigen (small cell lung carcinoma cluster 4 antigen)|cd24 antigen|signal transducer CD24|small cell lung carcinoma cluster 4 antigen protein-coding 736436 CD244 CD244 molecule, natural killer cell receptor 2B4 Natural killer (NK) cells express both activating and inhibitory cell surface receptors. Inhibitory signaling receptors all possess cytoplasmic immunoreceptor tyrosine-based inhibitory motifs, or ITIMs, whereas the activating receptors lack ITIMs and associate with DAP12 (TYROBP; MIM 604142), which contains an immunoreceptor tyrosine-based activation motif, or ITAM. Killer cell immunoglobulin (Ig)-like receptors, or KIRs (see KIR2DL1; MIM 604936), and other NK cell receptors interact with major histocompatibility complex (MHC) molecules (see MIM 142800). Members of the CD2 (MIM 186990) family adhere to each other instead. The cell surface glycoprotein 2B4 is related to CD2 and is implicated in the regulation of NK- and T-cell function (Boles et al., 1999 [PubMed 10458320]).[supplied by OMIM] 1580863 16049493,16983070,19586919,19638467,19790054,19904767,20164429,20237496,20379614,20437071,10358138,19499526,18794858,18523281,18479751,17981603,17609265,17599905,17300754,17171759,17111350,16803907,16621032,16585556,16410313,16177062,16081768,16002700,15713798,15677558,15611233,15489334,15356108,15340161,15195244,15169881,12515815,12477932,12363025,12077228,11986947,11917118,11815622,11774610,11714782,11714776,11689425,11477068,11342640,11163399,11034353,11003394,10934222,10556801,10458320,10359122,9841922,20345977,17207965,18296487,9834056,3772297,21064032 51744 NG_015991,NM_001166663,NM_001166664,BC053985,NM_016382,AF297616,AL354714,CH471121,CS173034,AF105261,AF107761,AF117711,AF145782,AF242540,AF363452,AJ245375,AJ245376,AJ245377,AK295950,AK313201,BC028073,BC041607 NP_001160135,NP_001160136,AAH53985,Q96RQ2,Q9BZW8,NP_057466,AAK57926,CAH72353,CAH72354,CAH72355,EAW52691,EAW52692,EAW52693,EAW52694,CAJ33698,AAD32538,AAD37838,AAF28833,AAD38951,AAK00233,AAK50015,CAC00647,CAC00648,CAC00649,BAG58732,BAG36017,AAH28073,ADQ32932 Hs.157872 2B4|NAIL|NKR2B4|Nmrk|SLAMF4 NK cell activation inducing ligand NAIL|NK cell activation-inducing ligand|NK cell type I receptor protein 2B4|h2B4|natural killer cell receptor 2B4|non mhc restricted killing associated protein-coding 736538 CD247 CD247 molecule The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1600789,1580863 15743765,15659558,15641485,15592455,15489334,15323357,15274412,15144186,14967045,14757743,14715568,14672952,14550268,14526327,14523017,12928398,12902492,12847689,12755691,12731048,12587826,12522270,12477932,12421992,12420108,12356870,12202152,12176041,12165490,12100036,11950832,11920499,11916964,11891219,11851345,11714771,11572860,11349123,10799879,10722370,10449770,10424441,10224289,9880255,9743208,9687533,9677202,9625766,9575182,9510190,9485181,9484780,9448136,9373149,9368621,9172452,9047237,9045614,8977276,8809126,8760790,8675217,8656061,8366117,8125298,7842742,7680960,7629168,7589084,12110186,8176201,11390434,11048639,11827988,15489916,17652306,1390434,19536175,19422667,19229850,19201859,19090773,19082633,19064610,18787188,18721908,18714041,18505733,18463433,18215426,18207249,18178846,18174230,17997796,17951997,17464179,17255353,17176095,17134755,17134238,17055436,17054067,16710414,16672702,16616055,16393980,16337488,16094384,15922712,15879101,15749888,7528772,7526385,7517794,7514106,3785426,3478717,2974162,2845582,2145165,2138330,2138083,2111780,1717577,1532817,1530920,1454062,1385321,1385158,17001685,16454711,15186530,12734410,11463741,11525746,7737297,20453842,16049493,16461343,19259799,19664385,19898481,20032419,20118245,20190752,20237496,20383147 1600789 919 NM_198053,NM_000734,NG_007384,AL031733,AL359962,CH471067,DQ072717,S94400,S94404,S94414,AF228312,AI420774,AK128376,AK223325,AK313946,AL557555,BC025703,BI819937,CR601423,CR614814,CR615998,CR619292,CR625818,EU597245,J04132,X55510,X55511,X55512 NP_932170,NP_000725,CAI21381,CAH69974,CAH69975,EAW90790,EAW90791,EAW90792,AAY57330,AAF34793,BAC87407,BAD97045,BAG36664,AAH25703,ACC61185,AAA60394,P20963,Q6KAV0,ABM84704,ABW03642,CAI21380 Hs.156445 CD3-ZETA|CD3H|CD3Q|CD3Z|T3Z|TCRZ CD247 antigen, zeta subunit|CD3Z antigen, zeta polypeptide (TiT3 complex)|T-cell antigen receptor complex, zeta subunit of CD3|T-cell receptor T3 zeta chain|T-cell surface glycoprotein CD3 zeta chain|cd3 antigen, zeta polypeptide protein-coding 1353954 CD248 CD248 molecule, endosialin 10947988,18813310,18761022,18723498,18490383,18192970,18187565,17986615,16076089,15862292,15624764,15489334,14702039,12477932,11489895,11084048,1438285,19948061 57124 NM_020404,AP001107,CH471076,AF279142,AJ295846,AK027290,BC051340,BC104484,BC105633,BQ005949,CR591995,CR613070 NP_065137,EAW74511,AAG00867,CAC34381,BAB55018,AAH51340,AAI04485,AAI05634,Q9HCU0 Hs.195727 CD164L1|MGC119478|MGC119479|TEM1 2610111G01Rik|CD164 sialomucin-like 1|CD248 antigen, endosialin|endosialin|tumor endothelial marker 1 protein-coding 1345556 CD24L1 CD24 molecule-like 1 7959762 935 NG_009856,AL121992 pseudo 1347175 CD24L2 CD24 molecule-like 2 7959762 936 NG_009857,AC084783 CD24L2 pseudo 1351433 CD24L3 CD24 antigen-like 3 7959762 937 1352393 CD24L4 CD24 molecule-like 4 15489334,7959762,1831224,1327504 938 NG_006012,AC009235,CR591421,CR598378,CR608613,CR609933,CR623460,S75311 Hs.721443,Hs.644105 CD24L4 pseudo 1353701 CD27 CD27 molecule The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq] 1581860,1580863 12324477,14556986,10809378,12624711,19290077,19109206,18774388,18512812,18322179,18216294,18005092,17942751,17785788,17548342,17475894,16951333,16802356,16751420,16272303,15723067,15685542,15489334,15356138,15340161,15301860,15230280,14702039,20393787,12743427,12685844,12477932,12464570,12197885,12009595,11976819,11801693,11062504,9862673,9794406,9767422,9692890,9582383,9177220,8580829,8530100,8186199,8120384,7479974,2837508,2442250,1655907,1334106,9263011,1711157,16683188,19556308,19698733,19773279,19776762,19866343,20201989,20237496,20377416,20568250,20800603,21048031 1581860 939 NM_001242,AC005840,AY504961,CH471116,AK315732,BC012160,BI225100,CR618820,M63928,HI179022,HI574192 NP_001233,AAR84239,EAW88800,BAG38087,AAH12160,AAA58411,P26842,ABM83222,ABW03460,CBX47585,CBX53820 Hs.355307 MGC20393|S152|T14|TNFRSF7|Tp55 CD27 antigen|CD27L receptor|T cell activation antigen CD27|T cell activation antigen S152|T-cell activation antigen CD27|tumor necrosis factor receptor superfamily member 7|tumor necrosis factor receptor superfamily, member 7 protein-coding 1605684 CD274 CD274 molecule 20522597,20636820,10581077,19535643,19451266,19229109,19116915,19088198,19081139,19056397,19010538,18981087,18941206,18924219,18850006,18830259,18760278,18756622,18684942,18676751,18650129,18608206,18585785,18572307,18566376,18550794,18549878,18490751,18378285,18347814,18322304,18301333,18294387,18203952,18173375,18086898,17942371,17938288,17920123,17603844,17597384,17562772,17475895,17415709,17363736,17360651,17311651,17203303,17186290,17136123,16916652,16876901,16530813,16493058,16482562,16282703,16265694,16221208,16085391,16002716,15973152,15837746,15780196,15489334,15342209,15297412,15164053,15131796,14702039,14686489,14617032,12923066,12893276,12800259,12719480,12704383,12646628,12606489,12538684,12477932,12468426,12244148,12091876,11015443,20506224,20145927,20814675,20817864,20349059,20450779,20513078,20445553,20617899,20677014,17366897,18024277,18476597,18705009,18756934,19264916,19442732,19597183,19604093,19664385,19684086,19688742,19703193,19729380,19739236,19759858,19794071,19811426,19826049,19830728,19850680,19916867,19950173,20066438,20126379,20367936,17963598,20363965,18578991,19570392,20587542,20682852,21076061,20601920,20628145 29126 NM_014143,AL135786,AL162253,CH471071,AF177937,AF233516,AK001894,AK300470,AK314567,AY254342,AY291313,AY714881,BC069381,BC074984,BC113734,BC113736,DQ286582,DQ836393,AI826502 NP_054862,CAI15983,EAW58763,AAF25807,AAG18508,BAA91966,BAG62189,BAG37149,AAP13470,AAP42144,AAU09634,AAH69381,AAH74984,AAI13735,AAI13737,ABB90152,ABI16084,Q0GN75,Q2V8D5,Q9NZQ7,ADR82905 Hs.521989 B7-H|B7H1|MGC142294|MGC142296|PD-L1|PDCD1L1|PDCD1LG1|PDL1 B7 homolog 1|CD274 antigen|PDCD1 ligand 1|programmed cell death 1 ligand 1|programmed death ligand 1 protein-coding 1604282 CD276 CD276 molecule Costimulatory B7 molecules (e.g., B7-1, or CD80; MIM 112203) signal through CD28 (MIM 186760) family molecules such as CD28, CTLA4 (MIM 123890), and ICOS (MIM 604558).[supplied by OMIM] 12906861,12477932,12055244,20696859,11224528,15188059,19454675,18941196,18694993,18690846,18676751,18650384,18292521,17406098,16303743,16274630,16049332,15961727,15682454,15489334,15314238,14764704,14702039,12975309,17851789,19269710,19544488,20035626,20333377,21107115 80381 NM_025240,AC022188,AC100838,CH471082,AF302102,AJ583695,AK074849,AK074997,AK075549,AK291721,AK292711,AK296358,AK298522,AK309728,AL360136,NM_001024736,AY358343,BC011578,BC062581,BQ278722,CA420873,CB529187 NP_001019907,NP_079516,EAW77933,EAW77934,AAK15438,CAE47548,BAC11243,BAC11344,BAC11692,BAF84410,BAF85400,BAG59038,BAG60725,AAQ88709,AAH62581,Q5ZPR3 Hs.77873 4Ig-B7-H3|B7-H3|B7H3 B7 homolog 3|CD276 antigen|costimulatory molecule protein-coding 735932 CD28 CD28 molecule CD28 costimulation is essential for CD4 (MIM 186940)-positive T-cell proliferation, survival, interleukin-2 (IL2; MIM 147680) production, and T-helper type-2 (Th2) development.[supplied by OMIM] 2307200,2307201,2307197,2307202,2307203,2307204,2307199,2307205,1358478,1580863 15353589,15284240,15280538,15214045,15194762,20814620,20858890,17767555,17703412,17467674,17311991,17284227,17242350,17237383,17197413,17119120,17060905,17015696,16969077,16818765,16801532,16708397,16698688,16638702,16564528,16493040,16339520,16237465,16169852,16136471,16112024,16094384,16005527,15953005,15815621,15592455,15554700,15494485,15489334,9784967,3159820,8717514,3875683,12028592,7492435,11285224,18641304,11390434,19333372,19299722,19284445,19258923,19217084,19211796,19203082,19202444,19109140,18989760,18802089,18684977,18680513,18625635,18617642,18573819,18566447,18566382,18396212,18390701,18389481,18337305,18295596,18211507,18174230,18162511,18097023,17899554,17878391,17878327,17804530,17785788,1355979,1313075,1832084,17023015,9328113,8450224,7541827,8706326,7589092,12836198,10618429,16454711,15078178,16354571,16091223,12734410,15610849,15144186,15079071,15067037,15019278,14984593,14975605,14697933,14642527,14550257,12963692,12952926,12928366,12864988,12842899,12626540,12506015,12482386,12477932,12434947,12393716,12377947,12324461,12297341,12207353,12195015,12195013,12167647,12121659,12097397,12077252,12059054,12050373,12036883,11986289,11958588,11932928,11916166,11884439,11877290,11830501,11826754,11826026,11735222,11714771,11713465,11685455,11680900,11500828,11123293,11021528,10820259,10754293,10586033,10430626,9694876,9510190,9045614,8992971,8760790,8621607,8576157,8386518,8080844,7737275,7545666,7539755,7523532,7516408,7513726,7509360,2825196,2162892,2157764,2156778,1847722,12660731,18246813,18751903,18829987,19380781,19573080,19641626,19672595,19735272,19752224,19773279,19824886,19852851,19857736,19898481,19913589,19959217,20113255,20126467,20137575,20190752,20228198,20237496,20331378,20368329,20371478,20433886,20435510,20470888,20503287,9032261,9915850,20477885,20140740,20568250,20716621,20846283,20962715,20973039,21048031 2307200,2307201,2307197,2307202,2307203,2307204,2307199,2307205,1358478 940 AC125238,AF411057,CH471063,EF064755,M37815,AF222341,AF222342,AF222343,AJ295273,AJ517504,AK292986,AK303421,AK313313,AW241446,NM_006139,BC093698,BC112085,J02988 NP_006130,AAY24123,AAL40931,EAW70347,EAW70348,EAW70349,EAW70350,EAW70351,ABK41938,AAA51944,AAA51945,AAF33792,AAF33793,AAF33794,CAC29237,CAD57003,BAF85675,BAG64473,BAG36118,AAH93698,AAI12086,AAA60581,P10747,Q70WG0 Hs.591629 MGC138290|Tp44 CD28 antigen|OTTHUMP00000206302|T-cell-specific surface glycoprotein CD28|cd28 antigen protein-coding 1347906 CD2AP CD2-associated protein This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq] 1581187,1600628,1580863 10339567,18029348,19131354,18791326,18396147,17922258,17853893,17823309,17713465,17606992,17188587,17081983,17020880,16895919,16707503,16678097,16344560,15800069,15659563,15592455,15489334,14679214,12764198,12690097,12672817,12559036,12530983,12477932,12029088,11733557,9741631,8889548,15331416,15128873,20515931,20457601,10997929,11067845,10913159,12618476,14736876,17474147,19945749,19956976,20379614,20404345 1581187,1600628 23607 NM_012120,NG_008878,AL355353,AL356421,AL358178,CH471081,AF146277,AF164377,AJ420469,AL050105,BC069444,BU679191,DA040834 NP_036252,CAH73238,CAI16839,EAX04319,AAD34595,AAF80495,CAB43274,AAH69444,Q9Y5K6 Hs.485518 CMS|DKFZp586H0519 CD2-associated protein|Cas ligand with multiple Src homology 3 (SH3) domains|adapter protein CMS|cas ligand with multiple SH3 domains protein-coding 1323355 CD2BP2 CD2 (cytoplasmic tail) binding protein 2 This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq] 1580863 17353931,12226669,9843987,17906334,17467737,17081983,16949628,16941565,16403013,16120600,16000308,15850374,15840814,15489334,15105431,12477932,12426371,10574461,10404223,2527369,1831175,19615732,16712791 10421 NM_006110,NR_024465,CH471192,AB033004,AF104222,AF109192,AK315708,BC000495,BC001947,BC013854,BC106082,CB135964,CR596969,CR599920,CR613917,CR625493,AC106782 NP_006101,EAW52260,EAW52261,BAA86492,AAC84141,AAQ13502,BAG38069,AAH00495,AAH01947,O95400,Q5QTR6,ABM84500,ABW03431 Hs.202677 FWP010|LIN1|Snu40|U5-52K CD2 antigen (cytoplasmic tail) binding protein 2|CD2 antigen cytoplasmic tail-binding protein 2|CD2 binding protein 2|CD2 cytoplasmic domain binding protein 2|CD2 cytoplasmic domain-binding protein 2|CD2 tail-binding protein 2|U5 snRNP 52K protein protein-coding 1344130 CD300A CD300a molecule The CMRF35 antigen (CMRF35A; MIM 606786), which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes. CMRF35H is recognized by the same antibody and is distinct from CMRF35 (Green et al., 1998 [PubMed 9701027]).[supplied by OMIM] 18535206,18424727,17588661,16339535,15489334,12477932,12456026,10746781,10540326,9701027,1349532,20656921,19359216,19592130,20237496,20498708 11314 CR616430,CR617958,BM923070,AC079325,AF176991,CH471099,AF020314,AF161346,AJ010101,AJ010102,AJ010103,AJ224864,AJ238323,AK309631,AK309636,BC020681,BC032352,NM_007261 Q9P0F3,Q9UGN4,NP_009192,AAF89957,EAW89166,EAW89167,EAW89168,AAD01646,AAF28906,CAB52291,CAB52292,CAB52293,CAB55347,CAB66145,AAH32352 Hs.9688 CLM-8|CMRF-35-H9|CMRF-35H|CMRF35-H|CMRF35-H9|CMRF35H|CMRF35H9|IGSF12|IRC1|IRC1/IRC2|IRC2|IRp60 CD300 antigen-like family member A|CD300a antigen|CLM-8|CMRF35-H|CMRF35-H9|CMRF35-like molecule 8|CMRF35H leukocyte immunoglobulin-like receptor|IRC1/IRC2|NK inhibitory receptor|cd300a antigen|immunoglobulin superfamily member 12|inhibitory receptor protein 60|leukocyte membrane antigen protein-coding 1349208 CD300C CD300c molecule The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM] 1349532,18535206,15489334,12477932,12456026,12415263,11556966,10746781,19359216,19592130,20656921 10871 NM_006678,AC079325,AF373866,CH471099,BC022279,X66171 NP_006669,AAK64272,EAW89171,AAH22279,CAA46948,Q08708,ABM82926,ABM86116 Hs.2605 CLM-6|CMRF-35|CMRF-35A|CMRF35|CMRF35-A1|CMRF35A|CMRF35A1|IGSF16|LIR CD300 antigen-like family member C|CD300c antigen|CLM-6|CMRF-35|CMRF35 antigen|CMRF35 leukocyte immunoglobulin-like receptor|CMRF35-A1|CMRF35-like molecule 6|CMRF35A leukocyte immunoglobulin-like receptor|cd300c antigen|immunoglobulin superfamily member 16 protein-coding 1605230 CD300E CD300e molecule CD300LE is an activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells. It mediates activating signals by interacting with DAP12 (TYROBP; MIM 604142) (Aguilar et al., 2004 [PubMed 15557162]).[supplied by OMIM] 15557162,15549731,12477932,20200953,19359216,19592130,20039296 342510 NM_181449,AC064805,CH471099,AF395839,AK298031,AK303545,BC100888,BC100889,BC100890,BX648376 NP_852114,EAW89175,EAW89176,AAP42154,BAG60333,BAG64571,AAI00889,AAI00890,AAI00891,Q496F6 Hs.158954 CD300LE|CLM-2|CLM2|CMRF35-A5|IREM-2|IREM2|PIgR-2|PIgR2 CD300 antigen like family member E|CD300 antigen-like family member E|CD300e antigen|CLM-2|CMRF35-A5|CMRF35-like molecule 2|IREM-2|OTTHUMP00000070871|PIgR-2|PIgR2|immune receptor expressed on myeloid cells 2|poly-Ig receptor 2|polymeric immunoglobulin receptor 2 protein-coding 1604243 CD300LB CD300 molecule-like family member b CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM] 17928527,16920917,16344560,12975309,12477932,19359216,19592130,20237496,20379614 124599 NM_174892,AC079325,CH471099,AF427618,AK290925,AK298665,AY359025,AY646929,BC028091,DA673717 NP_777552,EAW89169,EAW89170,AAN86133,BAF83614,BAG60833,AAQ89384,AAV69612,AAH28091,A8K4G0,ABM84511,ABM87832 Hs.313343 CD300b|CLM-7|CLM7|CMRF35-A2|IREM-3|IREM3|TREM-5|TREM5 CD300 antigen like family member B|CD300 antigen-like family member B|CD300 molecule like family member b|CMRF35-like molecule 7|OTTHUMP00000070873|immune receptor expressed on myeloid cells 3|leukocyte mono-Ig-like receptor 5|triggering receptor expressed on myeloid cells 5 protein-coding 2290269 CD300LD CD300 molecule-like family member d 19359216,19592130,12975309 100131439 NM_001115152,AC079325,AY358148,EF137868 NP_001108624,AAQ88515,ABM30606,Q6UXZ3 Hs.531099 CD300D|CLM-4|CMRF35-A4|CMRF35A4 CD300 antigen-like family member D|CLM-4|CMRF35-A4|CMRF35-like molecule 4|CMRF35A4|immune receptor CD300d protein-coding 1603897 CD300LF CD300 molecule-like family member f CD300LF is an inhibitory receptor of the Ig superfamily expressed on myeloid cells. It mediates negative regulatory signals by recruiting SHP1 (PTPN6; MIM 176883) or SHIP (INPP5D; MIM 601582) (Sui et al., 2004 [PubMed 15184070]; Alvarez-Errico et al., 2004 [PubMed 15549731]).[supplied by OMIM] 17202342,15549731,15489334,15340161,15184070,14702039,14662855,12975309,12477932,19359216,19592130,20031577 146722 NM_139018,AC016888,CH471099,AF251706,AF375480,AF375481,AK092757,AK298752,AK315165,AY303545,AY358545,BC028199,BI911496,BM147210,BM923728,DQ153249,HI565651 NP_620587,EAW89184,EAW89185,EAW89186,EAW89187,AAM19099,AAP42152,AAP42153,BAC03966,BAG60894,BAG37609,AAP57942,AAQ88909,AAH28199,AAZ81566,Q8TDQ1,CBX47386 Hs.567706 CD300f|CLM-1|CLM1|IREM-1|IREM1|IgSF13|NKIR CD300 antigen like family member F|CD300 antigen-like family member F|CD300 molecule like family member f|CLM-1|CMRF35-like molecule 1|IREM-1|NK inhibitory receptor|immune receptor expressed on myeloid cells 1|immunoglobin superfamily member 13|immunoglobulin superfamily member 13|inhibitory receptor IREM1 protein-coding 1601720 CD300LG CD300 molecule-like family member g Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM] 15340161,12975309,12477932,17207965,16876123,19359216,19592130 146894 NM_145273,AC007993,AC015937,CH471178,AF427619,AF427620,AK298112,AK309938,AY358364,BC025395,DC380538,NM_001168322,NM_001168323,NM_001168324 ADQ31684,NP_660316,EAW51657,EAW51658,EAW51659,EAW51660,AAN86134,AAN86135,BAG60397,AAQ88730,AAH25395,Q6UXG3,NP_001161794,NP_001161795,NP_001161796 Hs.147313 CLM-9|CLM9|NEPMUCIN|TREM-4|TREM4 CD300 antigen like family member G|CD300 antigen-like family member G|CD300 molecule like family member g|CLM-9|CMRF35-like molecule 9|TREM-4|triggering receptor expressed on myeloid cells 4 protein-coding 1350388 CD302 CD302 molecule CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM] 20861185,16344560,19317456,17947679,15815621,15489334,12824192,12477932,8889548,7584028,7584026,20237496 9936 AK125081,DB217404,DB460994,NM_001198763,NM_001198764,NM_014880,AC009961,CH471058,AF499000,AK291279,AK304422,AY314007,BC020646,CB240843,D14664 NP_001185692,NP_001185693,NP_055695,AAY14942,EAX11399,AAN77050,BAF83968,BAG65251,AAP79900,AAH20646,BAA03498,Q8IX05 Hs.674903,Hs.130014 BIMLEC|CLEC13A|DCL-1|DCL1|FLJ43091|KIAA0022|MGC22301 C-type lectin BIMLEC|C-type lectin domain family 13 member A|C-type lectin domain family 13, member A|CD302 antigen|cd302 antigen|type I transmembrane C-type lectin receptor DCL-1 protein-coding 1352822 CD320 CD320 molecule 10727470,11256614,19123977,15489334,12975309,12477932,11418631,11318610,11230166,9373149,8125298,18779389,16712791,20524213,20627121,20577008 51293 BC007083,BC036814,CR457174,CR594295,CR603782,CR603995,CR607353,CR615825,CR621803,CR621881,CR624802,NM_016579,AC010323,CH471139,AF161254,AK058014,AK222623,AK315656,AL136652,AL365453,AL365455,AY358420,BC000668,CB141050,NM_001165895 AAH07083,CAG33455,Q9NPF0,Q9NPM0,ACE87251,AAH00668,NP_057663,EAW68936,EAW68939,AAF61850,BAD96343,BAG38022,CAB66587,CAB97009,CAB97010,AAQ88786,NP_001159367 Hs.558499 8D6|8D6A|TCBLR 8D6 antigen|CD320 antigen|FDC-SM-8D6|FDC-signaling molecule 8D6|transcobalamin receptor protein-coding 1347694 CD33 CD33 molecule 1580863 10611343,3139766,18976728,18794057,18767926,18615103,18331725,18085638,18062779,17662271,16380601,15676214,15489334,15454492,15388576,15342556,12477932,12144127,12063025,11970770,11964282,11943481,11774609,11320212,10556798,10206955,9465907,8702538,8454872,7718872,7505004,1696442,15611322,19259613,20147975,20237496,20379614,21048031 945 NM_001772,NM_001082618,AC063977,AJ491319,AY040541,CH471135,AK090470,AK293934,AK304810,AK309558,AW007749,AY162464,BC028152,BP303860,CA426969,CR592075,M23197,CA748646,BP295158,NM_001177608 NP_001763,NP_001076087,CAD36509,AAK83654,EAW71994,EAW71995,EAW71996,BAC03451,BAG57312,BAG65560,AAO26206,AAH28152,AAA51948,P20138,Q546G0,Q8NF11,ABM82652,ABM85829,NP_001171079 Hs.83731 FLJ00391|SIGLEC-3|SIGLEC3|p67 CD33 antigen (gp67)|cd33 antigen (gp67)|gp67|myeloid cell surface antigen CD33|sialic acid binding Ig-like lectin 3|sialic acid-binding Ig-like lectin 3 protein-coding 1315723 CD34 CD34 molecule CD34 is a monomeric cell surface antigen with a molecular mass of approximately 110 kD that is selectively expressed on human hematopoietic progenitor cells.[supplied by OMIM] 1580863 16415795,16305332,16286998,16278377,16133456,16133360,16051386,15996935,15941859,15752760,15735742,15704650,15569991,15536192,15489334,15277701,15254762,15246162,15242879,15063762,14744088,14718574,14702039,12883699,12865405,16439688,20353905,20479285,20819778,20181261,20601304,20702587,20653822,15249540,12588680,19437324,19421145,19383239,19323831,19245435,19244164,19194276,19157505,18985821,18922853,18842716,18822690,18818438,18813945,18760838,18757300,18698330,18683236,18604736,18562079,18555590,18511598,18436865,18402976,18317882,18292296,18231114,18223188,18218912,18190781,18187924,18092954,18088553,18085638,18061957,18054528,18048043,18025805,17959862,17923501,17885669,17880611,17786144,17656039,17511030,17505307,17474795,17449014,17429142,17310847,17253947,17229904,17185613,17095623,17090657,17077283,17038503,16830365,16710414,16698689,16698686,16557578,16552335,12827650,12477932,12393741,12393633,12393582,12215337,12161354,12091359,11983914,11798512,11782553,11757722,11389015,10648383,10330415,10233696,9780190,9108388,8889549,8547678,8541536,7678811,2462139,1694174,1693532,1374051,1370171,10373550,20431906,19340613,20724541,18371060,18410526,18798798,19043799,19226222,19372622,19406403,19535348,19640275,19644143,19661015,19746588,19746591,19753521,19762535,19817957,19855080,19952356,20028384,20038636,20067819,20175958,20232575,20378847,20379614,20388788,20639392,20675279 947 NM_001773,NM_001025109,AB238231,AL356275,CH471100,CS104354,M81945,AA022917,AF202879,AF523361,AF538601,AK091890,AK291529,AK293030,AK294381,AK300835,BC039146,BX538076,CR603236,CR610477,CR613813,M81104,S53910,S53911 NP_001764,NP_001020280,BAE46748,CAI40194,CAI40195,CAI40196,EAW93458,EAW93459,CAJ01226,AAA03659,AAF14634,AAM82157,AAN15135,BAF84218,BAF85719,BAG57638,BAG62486,AAH39146,CAD98000,AAA03181,AAB25222,AAB25223,P28906,Q3C1E7,Q5JTA5,Q7Z375,Q8IUM0,Q9UH97,ABM82354,ABM85529 Hs.374990 CD34 antigen|cd34 antigen|hematopoietic progenitor cell antigen CD34 protein-coding 619554 CD36 CD36 molecule (thrombospondin receptor) The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 2307219,2307223,2307208,2307222,2307207,2307217,2307220,2307209,2307211,2307213,2307214,2307218,2300254,2307212,2307215,70461,734720,734721,619666,1625347,1600629,68930,1580863 20637247,20935172,20966904,20966915,20629037,20664056,20684828,20113368,20023206,20414830,15242332,15221799,15167446,15132977,15064117,15059642,15050739,15048167,14729862,14719070,14702039,14699114,14684613,12971464,12968020,12947091,12801610,12732844,12716848,12716760,12690205,12679131,12664607,12618277,12606036,12598312,12576469,12516552,12506336,12496189,12479587,12477932,12376530,12224819,12169456,12164325,12105195,12031598,12023894,11950861,11872368,11867619,11834946,11718687,11714819,11686358,11668637,11602321,11377606,11238109,10890433,10772961,10772928,10487979,10391209,9568716,9555943,9334230,9171348,8798390,8696942,8561798,7693552,7686693,7682812,7533783,7521304,7505064,7503937,2473841,1384492,10772654,2468670,17416590,7518447,18029348,2468669,1715582,7693034,19489681,19413744,19403559,19369259,19185504,19175917,19156623,19144874,19136129,19116451,19088437,19065049,19055786,19016618,18981136,18844973,18827892,18671254,18660489,18582374,18558917,18550349,18514070,18497330,18462250,18458151,18441389,18353783,18305138,18299339,18288886,18285332,18263877,18067591,18053692,18035074,18000176,17924847,17905828,17900273,17888147,17854769,17710630,17673938,17619827,17581812,17573918,17572512,17496152,17440173,17412877,17380316,17346709,17311893,17084382,17071479,17067553,16952981,16911630,16908526,16887969,16880211,16870193,16838191,16670819,16670153,16645727,16622019,16556603,16515687,16453284,16344560,16299313,16276419,16263699,16219805,16099393,16037098,16002039,15979077,15978955,15970594,15933580,15915335,15897321,15860439,15780035,15735450,15677505,15671915,15489334,15478802,15342556,15339698,15282206,17716309,19190027,19203752,19350111,19454037,19578796,19640849,19667111,19718657,19740737,19864601,19865095,19876004,19893500,19948975,19996318,20037584,20075072,20139232,20157514,20223461,20416077,20459687,8467233,20408954,19913121,20333725,20485444,20628086,20660057,20722468 2307219,2307223,2307208,2307222,2307207,2307217,2307220,2307209,2307211,2307213,2307214,2307218,2300254,2307212,2307215,70461,734720,734721,619666,1625347,1600629,68930 948 NM_001001547,AC124834,NM_001001548,NM_000072,NM_001127443,NM_001127444,NG_008192,AC073182,AC073850,AF300626,AF300627,AF300628,AF300629,AF300630,AF300631,AF300632,AF300633,AF300634,AF300635,AF300636,AF300637,AF300638,AF300639,AF300640,AY095373,CH236949,CH471091,L06849,Z22924,Z32770,AA846141,AK057690,AK096858,AK129899,AK300101,AK312920,AL596924,BC008406,BP258762,BP259746,CR598434,CR604329,CR605345,CR606551,CR607793,CR609645,CR618066,CR621633,CR623153,CR749465,DA566475,DA857400,AF300625,DC338512,L06850,M24795,M98398,M98399,S60720,S67044,S67532,HM217020,HM217021,HM217022,HM217023,HM217024,HM217025,HM217026,HC025784 NP_001001547,NP_001001548,NP_000063,NP_001120915,NP_001120916,AAG60624,AAG60625,AAG60626,AAG60627,AAG60628,AAG60629,AAG60630,AAG60631,AAG60632,AAG60633,AAG60634,AAG60635,AAG60636,AAG60637,AAG60638,AAG60639,AAM14636,EAL24191,EAW76996,EAW76997,EAW76998,EAW76999,EAW77000,EAW77001,EAW77002,EAW77003,EAW77004,EAW77005,AAB46390,CAA80504,CAA83662,BAG53380,BAH13209,BAG35765,AAH08406,AAA16068,AAA35534,AAA58412,AAA58413,AAD14933,AAB28992,AAD13993,P16671,Q13965,Q9BQA7,Q9BZM7,Q9BZM9,Q9BZN0,Q9BZN1,Q9BZN2,Q9BZN6,ABM83988,ABM87313,ADI80540,ADI80541,ADI80542,ADI80543,ADI80544,ADI80545,ADI80546,CBH19823 Hs.120949 CHDS7|FAT|GP3B|GP4|GPIV|PASIV|SCARB3 CD36 antigen (collagen type I receptor, thrombospondin receptor)|GPIIIB|OTTHUMP00000207872|PAS IV|PAS-4 protein|cd36 antigen (collagen type i receptor, thrombospondin receptor)|cluster determinant 36|fatty acid translocase|glycoprotein IIIb|leukocyte differentiation antigen CD36|platelet glycoprotein 4|platelet glycoprotein IV|scavenger receptor class B, member 3 protein-coding 1346523 CD37 CD37 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. 634638,1580863 2466944,8436422,17440052,17182550,15489334,15342556,14978098,12477932,11739647,10529602,10405235,10229664,8452817,8119731,3257508,2388030,1879540,19913121,20628086,20709950 634638 951 AK058093,AL833693,BC106752,BC110379,BP309557,BT019851,CR541877,CR594834,CR598140,CR612129,CR615545,CR616413,CR618735,X14046,NM_001774,NM_001040031,AC010524,AC011450,CH471177,AA767248,AK301016,AK301328,HI179050,HI179052 BAB71662,AAI06753,AAI10380,AAV38654,CAG46675,CAA32204,P11049,Q96LM7,NP_001765,NP_001035120,EAW52466,EAW52467,EAW52468,BAG62633,BAG62877,CBX53834,CBX53835 Hs.166556 GP52-40|MGC120234|TSPAN26 CD37 antigen|cd37 antigen|cell differentiation antigen 37|leukocyte antigen CD37|leukocyte surface antigen CD37|tetraspanin-26|tspan-26 protein-coding 735841 CD38 CD38 molecule CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell adhesion,signal transduction and calcium signaling. [provided by RefSeq] 1580863,1300048,2307239,2307232,2307231,2307228,2307229,2307243,2307230,2307227,2307233,2307236,2307234 10777496,8253715,19240243,19117080,19052657,19021053,18940667,18759251,18689273,18674817,18581239,18534062,18519815,18519230,18441094,18431797,18424664,18403265,18341691,18326821,18323656,18322442,18319522,18212246,18178673,18162778,18024373,17931624,17852458,17786980,17684154,17591784,17534928,17440035,17327405,17322278,17287849,17287729,17191385,17173996,17107912,17028452,16932341,16909600,16861223,16841181,16839787,16825496,16642047,16601673,16571778,16568475,16544364,16369895,16329108,16293598,16154090,15964076,15941914,15764953,15759031,15613544,15556942,15489334,15219386,15028729,14990397,14983032,14759258,14749705,14596927,14523017,12917263,12854897,12763926,12718937,12529675,12477932,12461619,12386160,12382646,12368155,20640790,12242463,12063025,11895784,11836173,11683883,10636863,10559984,10477767,10432444,10376802,9754820,9551996,9378973,9074508,8172650,7961800,7835083,7539755,2319135,1471258,12551845,10593874,9263011,20638362,17875758,18616755,19561535,19635790,19644143,19679010,19817952,19866343,19956559,20237496,20435366,20693316 2307239,2307232,2307231,2307228,2307229,2307243,2307230,2307227,2307233,2307236,2307234 952 NM_001775,AC005798,AF001985,CH471069,D84284,DQ091293,AA417096,AK297592,AK303169,AK313268,BC007964,CD688069,CR606718,CR610722,CR626710,D84276,D84277,M34461 NP_001766,EAW92745,EAW92746,BAA18966,AAY99634,BAG59979,BAG64268,BAG36077,AAH07964,BAA18964,BAA18965,AAA68482,P28907,Q4FCX6,ABM84110,ABW03578 Hs.479214 T10 ADP-ribosyl cyclase 1|ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase|CD38 antigen (p45)|NAD(+) nucleosidase|OTTHUMP00000217743|cADPr hydrolase 1|cd38 antigen|cyclic ADP-ribose hydrolase 1 protein-coding 736987 CD3D CD3d molecule, delta (CD3-TCR complex) The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq] 1580863 9485181,1831653,11048639,11827988,15489916,17652306,19222422,19056690,18803280,17923503,17176095,17023417,16888097,16412509,16094384,15778375,15592455,15546002,15489334,15144186,15028279,14602880,12522270,12477932,12410792,12215456,10722370,9743208,9582308,9510190,9045614,8809126,8621641,8278814,8020575,7719941,7517794,7495730,6095101,3488209,3478717,2939461,2859526,2826124,2540970,2138083,2111780,1826255,1385321,1372642,1832084,7774645,8145026,8125527,7506554,1979339,17001685,9263011,7539755,16777597,15534202,20660709,17872946,19724882,20237496,20478055,8176201,16407162,20511557 915 NM_001040651,NM_000732,NG_009891,AP001582,CH471065,EF444964,M12727,X01451,X03934,AK311971,BC039035,BC070321,CD014058,CR599233,CR611428 NP_001035741,NP_000723,EAW67365,EAW67366,ACA05962,AAA51792,CAA25683,CAA27573,BAG34910,AAH39035,AAH70321,P04234 Hs.504048 CD3-DELTA|T3D CD3 antigen, delta subunit|CD3d antigen, delta polypeptide (TiT3 complex)|OKT3, delta chain|T-cell receptor T3 delta chain|T-cell surface glycoprotein CD3 delta chain|cd3 antigen delta polypeptide protein-coding 1319442 CD3E CD3e molecule, epsilon (CD3-TCR complex) The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq] 1580863 12110186,11186279,9485181,9886373,1370449,8530500,12567487,8490660,11390434,11048639,11827988,15489916,17652306,18667496,18555270,18504423,17668204,17630354,17507663,17176095,17023417,16412509,16308105,16094384,15592455,15546002,15534202,15489334,15342556,15144186,14757743,14523017,12812314,12734335,12626537,12522270,12499387,12477932,12410792,11855827,11689561,11439187,19913121,20628086,11115514,10722370,10373416,9780176,9743208,9698567,9687533,9582308,9510190,9378960,9312149,9120393,9045614,8920877,8809126,8626450,8366117,7761456,7699329,7541024,7517794,7514106,7500045,7499176,3478717,3267235,3012357,2859526,2138083,2111780,1671006,1387664,1385321,1832084,7774645,8145026,8125527,7506554,1979339,17001685,9263011,7539755,16777597,11349123,16461343,19616027,19724882,20237496,20478055,8176201 916 NM_000733,NG_007383,AP001582,CH471065,M23323,AK292612,AK301255,AK311641,BC049847,BI910359,BP366535,CR591071,CR608821,CR609568,CR610563,X03884 NP_000724,EAW67360,EAW67361,EAW67362,EAW67363,EAW67364,AAA52295,BAF85301,BAG62822,AAH49847,CAA27516,P07766 Hs.3003 FLJ18683|T3E|TCRE CD3-epsilon|CD3e antigen, epsilon polypeptide (TiT3 complex)|T-cell antigen receptor complex, epsilon subunit of T3|T-cell surface antigen T3/Leu-4 epsilon chain|T-cell surface glycoprotein CD3 epsilon chain|cd3e antigen, epsilon polypeptide (tit3 complex) protein-coding 1606023 CD3EAP CD3e molecule, epsilon associated protein 9426281,10373416,19396015,19257887,18289367,17131345,16964243,16817948,16809778,16806233,16690207,15936590,15489334,15302935,15226435,14743216,12477932,19692168,19734419,19773279,21046104,19214185 10849 NM_012099,AC092309,CH471126,AF017633,AK292183,BC009705,BC028109,BC038992,BC046141,BC054044,BC065251,BC108889,U86751 NP_036231,EAW57346,EAW57347,AAD41158,BAF84872,AAH09705,AAH38992,AAH46141,AAH54044,AAI08890,AAB68608,O15446,Q05BI1,ABZ92467 Hs.710495 ASE-1|CAST|MGC118851|PAF49 A34.5|CD3 epsilon associated protein|CD3-epsilon-associated protein|CD3E-associated protein|CD3e antigen, epsilon polypeptide associated protein|DNA-directed RNA polymerase I subunit RPA34|RNA polymerase I-associated factor PAF49|antisense to ERCC 1|antisense to ERCC-1 protein protein-coding 1317072 CD3G CD3g molecule, gamma (CD3-TCR complex) The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq] 1580863 20660709,11186279,9485181,12794121,12407027,11048639,11827988,15489916,17652306,19056690,18815285,17923503,17822534,17176095,17023417,16916653,16888097,16344560,16094384,15879122,15778375,15489334,15459203,12477932,12410792,12374807,10722370,9743208,9510190,9373149,9045614,8809126,8636209,8125298,7533164,7517794,3478717,3112151,2944745,2826124,2547833,2540970,2138083,2111780,1826255,1709425,1635567,1535555,1387664,1385321,1832084,2139676,7774645,8145026,8125527,7506554,1979339,17001685,9263011,7539755,16777597,15638726,11298321,9582308,20511557,19536290,19724882,19860678,19898481,20237496,20478055 917 NM_000073,NG_007566,AP001582,CH471065,EF444965,X06026,AK223314,AK310578,AK310622,AK313966,AK315895,BC069685,BC113830,DB116263,DC378393,X04145,AB583162 NP_000064,EAW67368,ACA05963,CAA29428,BAD97034,BAG36681,BAF98786,AAI13831,CAA27764,P09693,Q53FH3,BAJ16153 Hs.2259 CD3-GAMMA|FLJ17620|FLJ17664|FLJ79544|FLJ94613|MGC138597|T3G CD3g antigen, gamma polypeptide (TiT3 complex)|CD3g molecule, epsilon (CD3-TCR complex)|T-cell antigen receptor complex, gamma subunit of T3|T-cell receptor T3 gamma chain|T-cell surface glycoprotein CD3 gamma chain|cd3g antigen, gamma polypeptide (tit3 complex) protein-coding 1344403 CD3W CD3W antigen, omega polypeptide (TiT3 complex) 918 735603 CD4 CD4 molecule 1580863 9185604,9168119,9151836,9074930,9049413,8924209,8887470,8806575,8723724,8709227,8674120,8659106,8613144,8551619,8510209,8350411,8289353,8246987,8230446,8139011,8091684,8091666,7961587,7910967,7853484,7778293,7676667,7650480,7636191,7539755,3263213,3086883,2990730,2845147,2592374,2247146,2214026,1851800,1834739,1727486,1708753,1701030,1618861,1533274,1433512,1425921,17083721,7917519,15033567,11453640,9989602,1548763,1535787,17010381,15542675,15258189,15161081,14640682,14624372,14505910,12525600,10776787,8882662,11861835,16507315,17121803,16963439,17005819,17121788,9443108,11201791,11070895,10589997,10233996,10213313,10213312,9600078,9525894,9724097,17151103,17158233,9573233,10593874,10581250,1757107,7541827,17132727,10089882,10941932,11327825,11069996,9811606,9052838,11578695,8057354,11396948,12525647,10684310,15929700,17937819,7539035,12007789,11188697,20739067,20504833,20881088,20562332,20819778,20924289,21048031,20930173,20448211,20539016,20631314,16497223,20724730,8512039,12444132,10922058,7486703,10358157,9668045,9551897,9166430,12091904,1901411,2118992,2014052,15202998,9660940,11048639,11827988,15489916,17652306,8124721,19505389,19439470,19333378,19301975,19289577,19196101,19192224,19129443,19066282,19064722,19004052,18924611,18713475,18676680,18451325,18418773,18377648,18376303,18353949,18261176,18205604,18204854,18167642,18156204,18097956,18089681,18078954,18061610,18045872,18035040,17980430,17975141,17956985,17947540,17885647,17855336,17726154,17712998,17653867,17645467,17591854,17543960,17522341,17462597,17363727,17346946,17334223,17320923,17304105,17267500,17252589,17237241,17235436,17175221,17065205,17020785,16987062,16979207,16955142,16951326,16873261,16821115,16762062,16758122,16721558,16631599,16344560,16331979,16314494,16309726,16284180,15972448,15956605,15890908,15823605,15821887,15767435,15748900,15731180,15714205,15665762,15660419,15616015,15611114,15489334,15489307,15371410,15340161,15326605,15317218,15308751,15194762,15063762,14757743,14747534,14722266,14705953,14697933,14570906,14561767,14557639,14500983,13679604,12954211,12899833,12893943,12864967,12842621,12816953,12767984,12746459,12702212,12695117,12639247,12629155,12608057,12586555,12531905,12531788,12517957,12477932,12462973,12368305,12218108,12213222,12055221,12008044,11994538,11959143,11922627,11920312,11906183,11893391,11878912,11854499,11756173,11581410,11535811,11413340,11390434,11140838,11113139,11106664,11024464,11024150,10820003,10816381,10600606,10562325,10559275,10508188,10490978,10438529,10413516,10375528,10199403,9780207,9641677,9622505,9558100,9546790,9499087,9417096,8568275,8551569,8497077,8460995,8455141,8417177,8363802,8212576,8139010,7935503,7769687,7692037,7690724,7690418,7689324,7687306,7686944,7685405,7615007,7594524,7562439,7546903,7545244,7544051,7543586,7533854,7529735,7529290,3652531,3497054,3495568,3484980,3466790,3304356,3038935,3027168,3023102,3018753,3006256,2990682,2986291,2986290,2833917,2821115,2462895,2446880,2441727,2438696,2437327,2436231,2432599,2431482,2431105,1910691,1899141,1870202,1845049,1742075,1721822,1720627,1709701,1706342,1636088,1627247,1622897,1602552,1548769,1548744,1546447,1527858,1501286,1457207,1380099,1376135,1370739,1370558,1348943,1281202,15797855,9918507,9451022,8102473,8043225,7576913,7537501,7521897,1691563,1537337,1738091,1373549,8151300,1501294,16829607,9604776,9344703,8801439,8547064,7913036,7589091,1402655,9269777,2015114,16886061,9473011,8862276,7821926,7774645,7545243,2040625,1535086,1491632,1763044,1810199,8648738,8887682,7867080,17187670,17144914,16886053,16227248,16188969,16174727,16103167,16047221,16046522,15990565,15890935,15784911,15748209,15737612,15585836,15215692,15113923,15113900,15018709,15014135,14990703,14576059,12963807,12960231,12953261,12873765,12871111,12857973,12845769,12832058,12713058,12634405,12614324,12502809,12429730,12429712,12402167,12368322,12163558,12120995,11967288,11931835,11884536,11877445,11876757,11861874,11752220,11504923,11489906,11413305,11397808,11356967,11333905,11287575,11265761,11264367,11086073,11024154,10875613,10738970,10590121,10582593,10559349,10482576,10446313,10430052,10393974,10371171,10364484,10329539,10074122,9770524,9721247,9696823,9658081,9653051,9632631,9614108,9601645,9600268,9499115,9499113,8849450,8805353,8629022,1918997,1971526,1931230,1551875,2187500,1977427,2107024,2190096,1374095,12719560,8906988,8627160,8437224,7904656,7904348,7693970,7678271,7515973,2251501,2006155,1896455,7906314,1970444,8661397,8178478,3259291,17180012,16855325,9186786,8575195,8356059,8168144,7914230,2846691,2543930,1356673,15308718,15279588,15183057,15168796,15090827,15016849,14659896,14585209,14557624,14505925,12768015,12719580,12646921,12646791,12597360,12584309,12502824,12487827,12477867,12208966,12134256,12072528,11734627,11533181,11413337,11413335,10558884,9862697,9739096,9658072,9264287,9037057,9000083,8995609,8973529,8827217,8760413,8663408,8627711,8627264,8615015,8411350,3261864,3260352,2559777,2541915,2482055,2479005,2461565,2453925,2402498,2198840,2103853,2078013,2018763,1732513,1730924,1701782,1691226,12145207,1457205,15936090,1380260,1381203,17084877,12885233,12406507,9349472,8892926,8891109,8806567,8726523,8560767,8551601,8510207,8437234,8361381,8331723,8280475,8160267,8129620,7897356,7754236,7737288,7707502,7688827,7618285,7592573,6096719,3257102,3095663,3016552,3001934,2995487,2830667,2374593,2109100,1995942,1985197,11711593,10779509,12083833,15719026,11602639,12191776,11804554,11704677,11799176,14592831,12218052,12218051,14585219,12707350,14739941,15778371,16148047,15613479,15572157,7688299,9621091,9637477,11352665,12787886,9123823,9036944,7522245,12033937,8986758,2324685,2136376,2068099,1888898,1724568,1722676,1720590,1717717,1710248,1703212,1702163,1690236,1588493,1543562,1382339,1376134,1280382,1279195,153,2842778,8464887,10758170,7874384,8419649,9043947,8125527,7506554,7903479,8738430,8105835,7906657,7897355,7589092,8369162,8474162,2364018,2363051,2341717,2335819,2325207,2261984,2243375,2212945,2190605,2182910,8649438,8615021,7831801,7692087,7616571,7494500,3682024,2062847,1711118,1592430,1489581,1354808,16616288,16426633,16106369,15893666,15650196,15321703,14592765,12477840,8615032,8497074,8196669,7904351,3029227,2571187,2537355,1698911,1381201,17035237,16817962,16775320,16753228,16300985,16282475,16002156,15983047,15964018,15956589,15857992,15807900,15767436,15194768,15113926,14967033,14517611,14512572,12887918,12692222,12610158,12441808,12392548,11356961,11312658,11238869,11118070,10888615,10774549,10644351,10623731,9870313,9632396,9576954,9525683,9445013,9420225,8976200,8906796,1984054,1727497,1697332,1678778,1677023,1520872,10623764,10202115,9548463,9002959,8552983,2468713,8075984,2555159,2549633,2475780,12943795,11827520,7734186,2829023,2829022,2550671,2549987,2538505,2190604,2007979,1690832,1687500,1674549,1639820,1605591,16315040,2558637,2441877,16736946,16611063,15665647,11311058,10557278,8977179,8827218,8811198,2171457,8906795,8898753,8674119,17077296,17042973,16684552,16476977,16454711,16354571,16310238,16091223,15078178,14965316,12836198,12734410,9049297,17001685,11932428,11581379,10451539,17053352,16796521,16777164,9334377,9261346,9377118,10505674,9226175,9263011,8599832,16515489,16185162,15996703,15857997,15729334,15577644,15180541,15180540,15109676,15051887,15016894,12970437,12930892,12769725,8948487,8605026,11290759,8707350,15279589,15099523,16439540,16365153,14670336,11438519,8599214,10375525,15854903,7769669,7983750,9168885,8599229,11264384,8599760,7975260,10208934,8151774,8035515,7871751,7831289,8871625,11463741,8331733,8437228,8262036,8516299,15638726,7903128,7902127,3118220,2125484,2115689,2111957,2082620,2078409,2078408,2076345,2059359,2045792,2040664,1991970,1983967,1979910,1978941,1970124,1967280,1967269,1959561,1931229,1889086,1871120,1870209,1832782,1736938,1727487,1727475,1720631,1717587,1713252,1711033,1702842,1698964,1698804,1696539,1693676,1685857,1614536,1599754,1569213,1567578,1563094,1549584,1512692,1503822,1500858,1493050,1472279,1465431,1438278,1388715,1381399,1378510,1373203,1354681,1352879,237459,2851650,1979339,1310988,2339113,8409933,1713692,8416385,8122371,2536098,2550679,12438611,8438588,8419650,7832633,2538547,15977243,15033690,14646564,11414813,11333908,10873786,10606089,9360974,8896248,8661396,8635586,8560759,8151301,7903106,7853478,7576930,7504739,2558687,2545918,2523711,2104682,1985202,1565858,15975620,15722538,15166428,15166429,15494497,16116206,11264386,7982906,9923610,11602785,9811611,20447038,15128768,19170196,19492063,19556424,19572057,19573080,19596013,19625176,19664391,19667946,19667950,19692168,19692476,19692480,19715524,19751272,19773279,19777054,19798410,19812686,19843086,20078884,20213609,20227370,20237496,8104794,20132229,20974843,19933330,20403730,20463063,20568250,20224778 920 DA619688,NM_000616,AC125494,CH471116,DQ012936,M35160,U47924,X87579,AK300052,AK303968,AK308344,AK310652,AK310677,AK310687,AK310750,AK311495,AK312828,AK315898,AK316461,AK316462,BC025782,BT019791,BT019811,DA463597,DB123455,M12807,S79267,U40625,NG_027688,CA305950,DA384217,DA639898,NM_001195014,NM_001195015,NM_001195016,NM_001195017,NR_036545 NP_000607,EAW88738,EAW88739,AAY22175,AAA16069,AAB51309,CAA60883,BAG61861,BAG64892,BAG35684,BAF98789,BAH14832,BAH14833,AAH25782,AAV38594,AAV38614,AAA35572,AAB35273,AAB02789,P01730,Q13969,Q6LCP8,ABM82978,ABM86172,NP_001181943,NP_001181944,NP_001181945,NP_001181946 Hs.631659 CD4mut CD4 antigen (p55)|CD4 receptor|T-cell surface antigen T4/Leu-3|T-cell surface glycoprotein CD4|cd4 antigen protein-coding 1604657 CD40 CD40 molecule, TNF receptor superfamily member 5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been found to be essential in mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 16213477,16149136,16142355,16127217,16091748,16033859,15994291,15883744,15838273,15817705,15808676,15795333,15753667,15708600,15690148,15670770,15634933,15578091,15489334,15375484,15367912,15340161,15339846,15331443,15307939,15301860,15291139,15290728,15272925,15187129,15153777,15113760,15102691,15078922,15069543,15001471,14991615,14976003,14764664,14747545,14742996,14699489,10352240,20453842,19435719,20133813,20593977,21071692,20371189,20107176,12223522,8605945,2475341,9468137,12761501,10748139,16893496,19494299,19422822,19421221,19419774,19397878,19336218,19272596,19268365,19258923,19246174,19180477,19171874,19159017,19118532,19110536,19099972,19023113,19018001,19002156,18996438,18849075,18835787,18796631,18794853,18755875,18713981,18705404,18694960,18676680,18669876,18636124,18606651,18603231,18593367,18591382,18552209,18548529,18487509,18446002,18445342,18437082,18289643,18287517,18253927,18217399,18159101,18097708,18064390,18037736,17999420,17989345,17967972,17949264,17925605,17904146,17805323,17786592,17721998,17703412,17678876,17599408,17553307,17534894,17459878,17446175,17376892,17344890,17319699,17302995,17255560,17237417,17237414,17202327,17199090,17154264,17077013,17043147,17026470,17012138,16964404,16936191,16901543,16864989,16806233,16756465,16644731,16504636,16494885,16429118,16357329,16356539,16356505,16341674,16279844,16260598,16246299,16221206,14695541,14687897,14665433,14651941,14644094,14633128,14617752,14612943,14611700,14568936,14557256,14517219,14515262,12905492,12893749,12874247,12857749,12855571,12829914,12810728,12799532,12778475,12764232,12686591,12676820,12672076,12637493,12626576,12624779,12604404,12593727,12584544,12576441,12576427,12510151,12507785,12488500,12477932,12460235,12437073,12433678,12356871,12324477,12220533,12209092,12209089,12207328,12165546,12149421,12122011,12093796,12089335,12070030,12039918,12011072,12005438,11997318,11981834,11891278,11877469,11876766,11870634,11867568,11830590,11830495,11826760,11817328,11792123,11780052,11751974,11751963,11714804,11714772,11676606,11675497,11562359,11268217,11172023,11160013,11129651,11042507,10984535,10764746,10741409,10647992,10601289,10600748,10514012,10411888,10395671,10092834,10075662,9990007,9933087,9718306,9671306,9642260,9624004,9605317,9511754,9432981,9373149,9144479,9133417,9050882,9037712,8790348,8562382,8125298,7687385,7544915,7543281,7538666,7533327,7530216,7527023,7522634,7518550,7516669,7516405,3487090,2998589,1701063,15749123,11087201,7541827,15611322,9020361,9384571,8906799,17353931,10847592,12140561,17225862,17687557,17884785,18495129,19170196,19183933,19448410,19470255,19475450,19479954,19525955,19573080,19592656,19622350,19625176,19644859,19674979,19692168,19735272,19751723,19773279,19834879,19889024,19906293,19911254,19948975,20049410,20058617,20067533,20081875,20118277,20137882,20190274,20219786,20233754,20237496,20303602,20368992,20416077,20439292,20444755,20473910,20498205,20503287,20504251,21041727,20456428,19913121,20552594,20577873,20628086,20634952,20650312,20682661,20726323,20568250,20716621,20797713,20973039,21054240 958 NM_001250,NM_152854,NG_007279,AL035662,AY504960,CH471077,CS095651,CS095653,CS097318,CS097320,CS097717,CS097719,CS103051,CS103053,EF064754,AB209660,AJ300189,AK222896,AY225405,BC012419,BC064518,BM761221,BT019901,CR605787,CR608994,CR619622,CS362569,CS362571,CS415595,CS415597,CS415607,CS415609,CS458150,CS458152,CS458177,CS458179,FB293281,FB293283,GM980682,GM980684,HB386506,HB386508,HC324854,HC324856,HC728083,HH930542,HH930544,HI594042,HI594044,HI594054,HI594056,HI651118,HI651120,HI921882,HI921884 NP_001241,NP_690593,CAC17670,CAI42973,AAR84238,EAW75757,EAW75758,EAW75759,EAW75760,EAW75761,EAW75762,EAW75763,CAJ00027,CAJ00028,CAJ00033,CAJ00034,CAJ00124,CAJ00125,CAJ00728,CAJ00729,ABK41937,BAD92897,CAC29424,BAD96616,AAO43990,AAH12419,AAH64518,AAV38704,P25942,Q09LL4,Q59F01,Q6P2H9,ABM82730,ABM85914,CAL31951,CAL31952,CAL47757,CAL47758,CAL47760,CAL47761,CAL99221,CAL99222,CAL99226,CAL99227,CAQ64629,CAQ64630,CAX20923,CAX20924,CAZ64457,CAZ64458,CBJ55369,CBJ55370,CBL93995,CBX32768,CBX32769,CBX55113,CBX55114,CBX55116,CBX55117,CBX89251,CBX89252,CBY65289,CBY65290 Hs.472860 Bp50|CDW40|MGC9013|TNFRSF5|p50 B cell surface antigen CD40|B cell-associated molecule|B-cell surface antigen CD40|CD40 antigen (TNF receptor superfamily member 5)|CD40 type II isoform|CD40L receptor|nerve growth factor receptor-related B-lymphocyte activation molecule|tumor necrosis factor receptor superfamily member 5|tumor necrosis factor receptor superfamily, member 5 protein-coding 1352959 CD40LG CD40 ligand The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq] 2314209,2314214,2314219,2314220,2314212,2314208,2314211,2314188,2314223,1599480 20133813,20230421,20811042,20811715,21071692,20153702,19913121,20485444,20577873,20628086,20726330,20107176,17319699,17237447,17237414,17106168,17103120,16987056,16963006,16936191,16888032,16797372,16780932,16777115,16741250,16570157,16545138,16504636,16498500,16494885,16464740,16396693,16393964,16380494,16378074,16311023,16221206,16186418,16182391,16149136,16014560,15872081,15868137,15808676,15795254,15753667,15741223,15674425,15489334,15345520,15315967,15307939,15302794,15277394,15249506,15191945,15153777,15128830,15115688,15111558,15069543,15067037,14991615,14976003,14963650,14962968,14764664,14760083,14742996,14734771,14687897,14662879,14623801,14617752,14611725,12955358,12952351,12874247,12764232,12742991,12738634,12718765,12707303,12699408,12695287,12676191,12672403,12626576,12605316,12592374,12574344,12563087,12509450,12477932,12460235,12427285,12423681,12379582,12352896,12223522,12209602,12207328,12192302,12140747,12117990,12117904,12042657,12011072,11986259,11981870,11978801,11964311,11922919,11918631,11902332,11902141,11891278,11875495,11865444,11826760,11818376,11817328,11816717,11801691,11801648,11792121,11751888,11714772,11676606,11525169,11493450,11358428,11297035,11270473,11123305,11042507,10647992,10510350,9873085,9746782,9605317,9150729,8907262,8889581,8626375,8589998,8550833,8094231,7999797,7907793,7717401,7688562,7679801,7679206,7678782,7586644,7543281,7537298,7532185,7516405,1427881,1385114,1281209,1280226,14764743,12960257,7541827,16429138,18641297,10085035,9468137,8605945,12697681,9922218,7678552,16893496,12646674,19541004,19494299,19470255,19422822,19421221,19318922,19282610,19272596,19258923,19232335,19170966,19120902,19101003,19056482,19023113,19019166,18946203,18945879,18849075,18835787,18827186,18812691,18787388,18756582,18714535,18713981,18661398,18658029,18652769,18641098,18603231,18593367,18554599,18548529,18481160,18373164,18349125,18349065,18339317,18281372,18260168,18217399,18196935,18180380,18156495,18093816,18081708,18054068,18051214,17947713,17917707,17901373,17893433,17879023,17845713,17805323,17716773,17703412,17675236,17619839,17562816,17469136,17459878,17433826,17414714,17403203,17392362,17372166,17360404,20471683,20505142,20505144,20881665,20980629,17225862,17884785,18719603,19201484,19520616,19564823,19575287,19590499,19656553,19675172,19707993,19723899,19735272,19755790,19811271,19859091,19889024,19895673,19896127,19906505,19948975,20006362,20008286,20026377,20039299,20048211,20071030,20174757,20211016,20459687,20503287,17207965,20456428,20676835,20734064 2314209,2314214,2314219,2314220,2314212,2314208,2314211,2314188,2314223,1599480 959 NM_000074,NG_007280,AL135783,CH471150,CQ859998,D31797,DQ119668,EF064753,AF529195,AK292637,AY197739,BC071754,BC074950,FN298241,L07414,X67878,X68550,Z15017,CS398757,CS458154,CS458181,GN344043,HI658768 NP_000065,CAI42901,CAI42902,EAW88462,EAW88463,CAH25976,BAA06599,AAZ23548,ABK41936,AAQ09090,BAF85326,AAP37943,AAH71754,AAH74950,CAX65629,AAA35662,CAA48077,CAA48554,CAA78737,P29965,Q3L8U2,Q3LFI8,Q45QX2,CAL44882,CAL99223,CAL99228,CAY55957,CBY45341,ADQ32018 Hs.592244 CD154|CD40L|HIGM1|IGM|IMD3|T-BAM|TNFSF5|TRAP|gp39|hCD40L CD40 antigen ligand|CD40 ligand|CD40-L|T-B cell-activating molecule|T-cell antigen Gp39|TNF-related activation protein|tumor necrosis factor (ligand) superfamily member 5 protein-coding 737036 CD44 CD44 molecule (Indian blood group) The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq] 2289349,2289353,2289371,2289388,2289345,2289347,2289350,2289351,2289352,2289356,2289357,2289358,2289361,2289362,2289364,2289369,2289372,2289373,2289346,2289354,2289359,2289360,2289363,2289370,2296043,2296044,4145437 20200161,20698358,2471973,1991450,1922057,18029348,16809613,19506034,19488035,19434087,19432801,19416960,19415765,19396460,19385591,19360323,19351367,19331807,19277703,19254252,19243022,19176383,19148550,19100415,19097357,19088176,19077409,19073595,19023892,19017937,19017033,19010227,19009655,19004834,18997126,18981124,18980968,18971959,18952835,18852874,18835619,18804988,18804101,18787423,18757307,18753140,18662989,18654930,18651220,18644869,18632604,18614011,18612220,18608209,18577517,18559090,18516325,18513329,18502153,18502033,18495204,18450824,18450428,18441325,18438684,18415803,18414895,20361869,19906290,20157733,20357818,20374021,20121756,20588206,20663864,20199686,20228222,20562647,19913121,20454640,20606680,20628086,20628624,20806065,19167378,18387829,9058761,16713680,16702221,16652145,16636662,16620830,16565092,16565089,16554035,16533775,16530165,16504370,16478744,16419149,16415175,16407205,16390331,16354706,16352650,16335952,16325770,16311123,16234326,16229685,16219515,16208414,16177123,16166750,16085055,16002044,15990174,15962382,15943035,15923644,15867228,15816636,15809746,15783086,15736104,15728517,15652352,15645378,15641486,15638386,15638368,15578568,15558018,15531362,15516973,15509527,15489334,15361838,15313120,15292257,15239258,15123640,15070674,15060082,15051494,15048167,15040016,15023889,15017146,15013310,15009704,14992719,14981907,14702039,14669354,14644158,14623895,14614016,14534719,14534711,14525786,14504094,12949055,12939665,12928429,12911725,12909589,12908752,12901833,12893366,12883358,12842543,12826680,12820426,12801931,12779084,12767055,12748184,12730955,12727228,12714503,12711360,12702150,12650924,12635659,12629514,12574156,12511867,12511569,12508241,12506143,12485845,12479099,18375392,18372518,18350162,18326820,18276068,18265895,18234849,18227732,18214619,18199543,18193058,18162778,18160820,18155656,18094716,18092951,18077444,18048043,18005092,17987038,17975002,17945213,17945212,17940137,17919613,17914409,17911438,17849363,17846873,17726647,17708612,17702746,17679465,17657222,17638891,17627000,17611662,17611661,17599831,17589956,17581168,17579117,17540049,17516109,17482182,17479111,17464868,17392272,17383158,17343740,17332338,17265493,17237445,17136494,17135256,17092940,17085435,17081983,16998484,16998483,16969488,16868940,16809345,12477932,12452061,12444143,12439723,12421945,12411303,12407110,12393872,12392323,12377945,12371152,12370738,12356905,12297287,12235127,12226094,12223485,12198147,12183053,12168806,12145287,12145196,12127836,12093135,12090473,12032545,11935029,11840273,11839564,11825898,11825873,11792412,11759056,11740562,11727257,11716065,11606575,11466334,11463356,11402070,11381077,11129651,11095749,11084024,10950950,10933060,10737800,10657301,10652271,10636882,9794764,9580567,9573028,9472040,9334256,8871928,8858161,8649806,8640758,8636151,8599448,8576267,8352881,8343954,8148709,7908632,7699015,8986622,7591309,7557500,7542116,7539755,7532176,7529574,7516819,7508842,7505012,7499241,2474557,2466576,2466575,2454887,2056274,2007624,1840487,1734871,1730778,1717145,1694723,1537855,1496383,1465456,1281868,17891137,15688033,20606732,20663884,11207560,15452148,17045821,18246799,18279620,18396641,19200980,19350388,19563418,19580891,19582779,19598259,19626493,19633292,19635906,19638429,19703720,19724852,19764564,19773544,19787202,19787231,19794958,19794964,19799609,19816074,19826051,19857547,19912362,19914206,19937401,19952968,19955840,19965872,19996285,20019840,20042890,20083228,20093404,20093489,20098615,20127679,20142144,20178130,20193563,20212041,20237496,20306693,20382854,20403620,20530438,20525896,20799279,20819778,20851866,20843027,20552237,20605145,20969572,20974992,21055388,20856229,20491779 2289349,2289353,2289371,2289388,2289345,2289347,2289350,2289351,2289352,2289356,2289357,2289358,2289361,2289362,2289364,2289369,2289372,2289373,2289346,2289354,2289359,2289360,2289363,2289370,2296043,2296044,4145437 960 NM_001001389,NM_001001390,NM_001001391,NM_001001392,NG_008937,AL133330,AL136989,AL356215,CH471064,NM_000610,L05424,S72928,S78367,AB073901,AF086543,AF098641,AJ251595,AK123567,AK127622,AK129808,AK290424,AK297776,AK304467,AK307707,AL832642,AY101192,AY101193,BC004372,BC052287,BC067348,BF828674,BF872530,BG946113,CD721908,CR596847,CR611618,CR621045,CR623874,EF581837,FJ216964,L05423,M24915,M25078,M59040,M83325,M83326,M83327,M83328,S66400,S82326,U40373,W47313,X55150,X55938,X56794,X62739,X66733,HI519530 NP_000601,NP_001001389,NP_001001390,NP_001001391,NP_001001392,CAC10345,CAC10346,CAC10347,CAC10348,CAC10349,EAW68144,EAW68145,EAW68146,EAW68147,EAW68148,EAW68149,EAW68150,EAW68151,EAW68152,EAW68153,EAW68154,AAB13622,AAB13623,AAB13624,AAB13625,AAB13626,AAB13627,AAB13628,AAB30429,AAD14279,AAC70782,CAB61878,BAF83113,BAG60121,BAG65282,CAD89965,AAM50040,AAM50041,AAH04372,AAH52287,AAH67348,ABQ59315,ACI46596,AAA35674,AAA36138,AAA51950,AAB27917,AAB27918,AAB27919,AAD14389,AAA82949,CAA38951,CAA39404,CAA40133,CAA44602,CAA47271,O95370,P16070,Q86UZ1,Q99900,Q9H5A3,Q9H5A4,Q9H5A6,Q9H5A7,Q9P2Z2,EAW68155,CBX54346 Hs.502328 CDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MGC10468|MIC4|MUTCH-I|Pgp1 CD44 antigen|GP90 lymphocyte homing/adhesion receptor|Hermes antigen|OTTHUMP00000041555|OTTHUMP00000041556|OTTHUMP00000041557|OTTHUMP00000041558|OTTHUMP00000041559|cd44 antigen|cell surface glycoprotein CD44|chondroitin sulfate proteoglycan 8|epican|extracellular matrix receptor III|hematopoietic cell E- and L-selectin ligand|heparan sulfate proteoglycan|homing function and Indian blood group system|hyaluronate receptor|phagocytic glycoprotein 1 protein-coding 1346662 CD46 CD46 molecule, complement regulatory protein The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. This gene is found in a cluster on chromosome 1q32 with other genes encoding structural components of the complement system. At least fourteen different transcript variants encoding fourteen different isoforms have been found for this gene. [provided by RefSeq] 2293547,2306066,2306067,2293548,2306065,2293549,2293551,2293550,1580863 19396169,19423540,19597833,19737905,19784949,19837375,19845582,19861685,19878546,19957088,20018629,20057080,20059470,20106822,20237496,20406964,20438785,20513133,20925204,7884872,7708671,7691939,7534417,3260937,2298462,2050389,1953714,1717583,1601037,2521358,8402913,1711570,19457998,19344414,19198561,18842294,18684945,18677279,18658028,18598642,18573902,18524830,18514989,18287234,17947513,17914026,17715217,17617869,17599974,17560639,17467801,17412968,17261436,17116876,17015676,16888016,16735514,16710414,16690929,16621965,16386793,16344560,16254377,16253969,16087667,15919905,15845515,15845255,15808690,15784724,15592455,15489334,15385816,15378282,15336534,15308701,15307194,15307176,15151618,15121049,15078926,15047806,14962294,14962279,14712499,14708531,14615110,14597734,14566335,14566051,12958316,12915534,12869763,12724329,12663806,12540904,12477932,12171934,12112588,12082081,12055630,12055245,12050388,11983016,11971006,11901164,11858824,11844145,11739493,11714708,11260136,10972291,10843656,10751138,10741407,10657632,10619434,10357804,9759896,9661662,9659228,9551389,9379894,9373149,9185079,8764003,8418811,8371352,8125298,8026516,7929741,19662541,20638094 2293547,2306066,2306067,2293548,2306065,2293549,2293551,2293550 4179 AI589224,DB078198,NM_002389,NM_172359,NM_172351,NM_153826,NM_172352,NM_172353,NM_172361,NG_009296,AL035209,AL365178,AY916779,CH471100,S65879,AF209712,AF209713,AF209714,AK129560,AK222822,AK291227,AK296819,AU131238,BC007046,BC026273,BC030594,BX537451,BX640613,BX649050,CR604185,CR616292,D84105,EF076055,EF076056,EF076057,EF076058,NM_172350,M58050,S51940,X59405,X59406,X59407,X59408,X59409,X59410,Y00651,Y07713,A18585 NP_002380,NP_758869,NP_758861,NP_722548,NP_758862,NP_758863,NP_758860,NP_758871,CAI18804,CAI18805,CAI18806,CAI18807,CAI18808,CAI18809,CAI18810,CAI18811,CAH73947,CAH73948,CAH73949,CAH73950,CAH73951,CAH73952,CAH73953,CAH73954,AAW82433,EAW93463,EAW93464,EAW93465,EAW93466,EAW93467,EAW93468,EAW93469,EAW93470,EAW93471,EAW93472,EAW93473,EAW93474,EAW93475,EAW93476,EAW93477,AAD13968,AAF73844,AAF73845,AAF73846,BAD96542,BAF83916,BAG59392,AAH30594,CAD97694,CAE45719,CAI45983,BAA12224,ABK81635,ABK81636,ABK81637,ABK81638,AAA62833,AAB24802,CAA68675,CAA68985,P15529,Q06C42,Q92494,CAA01400,ABM81827,ABM84980 Hs.510402 AHUS2|MCP|MGC26544|MIC10|TLX|TRA2.10 CD46 antigen, complement regulatory protein|OTTHUMP00000034707|OTTHUMP00000216787|antigen identified by monoclonal antibody TRA-2-10|complement membrane cofactor protein|measles virus receptor|membrane cofactor protein|membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)|membrane cofactor protein (cd46, trophoblast-lymphocyte cross-reactive antigen)|trophoblast leucocyte common antigen|trophoblast leukocyte common antigen|trophoblast-lymphocyte cross-reactive antigen protein-coding 1349824 CD46P CD46 molecule, complement regulatory protein pseudogene 1740338 4182 NG_008252,M73723,AL137789,M73721,M73722 CD46P|MCPL|MCPL1 pseudo 737350 CD47 CD47 molecule This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 15383453,15700281,8294396,7998989,16691243,10429193,19632178,19144568,18979398,18954403,18855618,18675774,18657508,18524990,18523271,18497546,18332220,18186923,17572512,17363705,17360380,17098740,16951312,16697668,16581280,16291597,15917238,15880429,15842360,15725479,15498560,15489334,15359629,15292185,14966135,14759258,14747477,14702039,14551146,12902472,12736272,12690108,12646616,12609828,12477932,12393467,12393442,12370491,12351399,12218055,12176912,11980922,11907074,11509594,11454874,11331301,11306274,10549293,10545994,10397731,10037797,9872987,9169439,8563755,8550562,7691831,20826801,20364320,2277087,1394148,20033473,10469599,20675593,20923780,19360900,19628875,19661269,19748659,19952055,20299253 961 CR624381,X69398,Z25521,NM_001777,AC012020,AF540016,CH471052,AI701980,AK096670,AK124152,AK289813,AL832675,BC010016,BC012884,BC037306,BC042889,BC045593,BC053959,BI753986,BT006907,BX640889,CB995865,CR591693,CR591788,CR592842,CR601569,CR615658,CR621937,CR623329,NM_198793 CAA49196,CAA80977,Q08722,Q71A41,ABM81682,ABM82737,ABM84846,NP_942088,NP_001768,AAQ11189,EAW79732,EAW79733,EAW79734,BAF82502,AAH10016,AAH12884,AAH37306,AAP35553 Hs.446414 IAP|MER6|OA3 CD47 antigen (Rh-related antigen, integrin-associated signal transducer)|CD47 glycoprotein|Rh-related antigen|antigen identified by monoclonal antibody 1D8|antigenic surface determinant protein OA3|integrin associated protein|integrin-associated protein|integrin-associated signal transducer|leukocyte surface antigen CD47 protein-coding 1352782 CD48 CD48 molecule BLAST1 is the designation used for an activation-associated cell surface glycoprotein of 40 to 45 kD expressed primarily in mitogen-stimulated human lymphocytes. The protein sequence predicted by the cDNA encoding BLAST1 indicates that BLAST1 is a member of the immunoglobulin supergene family. Yokoyama (1991) identified the BLAST1 activation/adhesion molecule as CD48.[supplied by OMIM] 1580863 12356317,2828034,1693656,11313396,19494291,18617371,17599905,17222190,16866884,16803907,16785501,16710414,16585556,16081768,15760905,15489334,15356144,12496412,12477932,12072193,12007789,11313125,11163399,10359122,9834056,9418191,9373149,8650218,8125298,8104794,1999351,1999350,1847502,1827826,16169070,19913121,20628086,16049493,20164429,20237496,20453000,18296487 962 AL121985,CH471121,M63911,AK225636,AK310624,AK310744,BC016182,BC030224,BT019813,CR457012,M37766,M59904,NM_001778,X06341 NP_001769,CAC00578,CAH73506,EAW52705,AAA35602,AAH16182,AAH30224,AAV38616,CAG33293,AAA36211,AAA62834,CAA29647,P09326,Q6IAZ2,ABM87315,ABW03873,Q8MGR0 Hs.243564 BCM1|BLAST|BLAST1|MEM-102|SLAMF2|hCD48|mCD48 B-lymphocyte activation marker BLAST-1|BCM1 surface antigen|CD48 antigen|CD48 antigen (B-cell membrane protein)|TCT.1|cd48 antigen (b-cell membrane protein)|leukocyte antigen MEM-102 protein-coding 736702 CD5 CD5 molecule 1580863 17585360,1711157,3093892,11390434,19573080,19141631,18641338,18572329,18556402,18339402,18006695,17878328,17513730,17325858,16923582,16344560,16107871,15998834,15981803,15843554,15549146,15489334,15187131,15144186,14603444,12707340,12522270,12477932,12473675,12447961,12393419,11869933,11861604,11751967,11298344,11123317,10510361,10082557,9862202,9834084,9692886,9603468,9378960,9079809,8806810,7539755,7513045,7512031,1385158,19758163,19773279,19901887,20568250,21048031 921 NM_014207,AP000437,CH471076,EF064752,X89405,AK292698,AY541703,BC027901,DB143341,X04391 NP_055022,EAW73924,ABK41935,CAA61584,BAF85387,AAS55053,AAH27901,CAA27979,P06127,Q6QHB8,ABM83003,ABM86196 Hs.58685 LEU1|T1 CD5 antigen (p56-62)|T-cell surface glycoprotein CD5|cd5 antigen|lymphocyte antigen T1/Leu-1 protein-coding 1348187 CD52 CD52 molecule 20349607,8223854,1711975,18647288,17624925,17428002,17145843,16797237,16796779,16266689,15489334,14662784,12477932,12113063,11860230,11257744,10561018,10524207,9361796,8977262,8418821,8418812,8366859,7890742,7718516,7688956,7685389,1352921 1043 NM_001803,AJ132359,AL451139,CH471059,BC000644,BI835519,BT007116,CR456874,CR607239,CR616675,X62466,X67699,A23013 NP_001794,CAB51285,CAI15846,EAX07822,AAH00644,AAP35780,CAG33155,CAA44323,CAA47929,P31358,Q6IBD0,Q9UJ81,CAA01644,ABM84634 Hs.276770 CDW52 CAMPATH-1 antigen|CD52 antigen (CAMPATH-1 antigen)|CDW52 antigen (CAMPATH-1 antigen)|cambridge pathology 1 antigen|cd52 antigen (campath-1 antigen)|epididymal secretory protein E5|he5|human epididymis-specific protein 5 protein-coding 737207 CD53 CD53 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 1346273,8404042,8436422,8452817,17210617,16710414,16506060,15489334,12725440,12631118,12606948,12477932,12392323,11959120,11739647,11443129,11157846,10529602,10229664,9862348,9470900,8816400,8757325,8335905,8319976,8307585,7963560,7621882,7539755,2258620,1879540,1700763,20407468,19913121,20628086,11325968,20237496 963 NM_001040033,NM_000560,AJ243474,AL354713,AL391064,CH471122,L11670,L11671,AK298723,AK313582,BC035456,BC040693,BG536920,BT019643,CA453414,CR592401,CR598355,CR605120,CR609698,CR614019,CR619551,CR620545,M37033,M60871 NP_001035122,NP_000551,CAH73292,EAW56459,BAG60877,BAG36352,AAH40693,AAV38449,AAA35663,AAA51951,P19397 Hs.443057 MOX44|TSPAN25 CD53 antigen|CD53 glycoprotein|CD53 tetraspan antigen|antigen MOX44 identified by monoclonal antibody MRC-OX44|cd53 antigen|cell surface antigen|cell surface glycoprotein CD53|leukocyte surface antigen CD53|tetraspanin-25|transmembrane glycoprotein|tspan-25 protein-coding 737499 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) This gene encodes a protein involved in the regulation of the complement cascade. The encoded glycoprotein is also known as the decay-accelerating factor (DAF); binding of DAF to complement proteins accelerates their decay, disrupting the cascade and preventing damage to host cells. Antigens present on the DAF glycoprotein constitute the Cromer blood group system (CROM). Two alternatively spliced transcripts encoding different proteins have been identified. The predominant transcript encodes a membrane-bound protein expressed on cells exposed to plasma component proteins but an alternatively spliced transcript produces a soluble protein present at much lower levels. Additional, alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863,2326181,2326170,2326179,2326180,2326167,2326173,2326175,2326168,2293549,2326166 16626483,16602701,16543227,16533428,16503113,16367924,16273233,16179371,16079188,15919505,15831949,15808692,15808686,15808683,15808680,15721309,15596863,15536079,15489334,15385816,15356143,15351205,15350460,15284224,15151618,15102803,15102687,15007307,15007304,14993659,14962294,14734808,14722298,14530374,14517339,12950987,12920584,12880676,12811528,12731067,12675719,12672958,12664211,12659837,12654791,12645951,12499389,12477932,12445304,12393518,12386146,12186929,12153048,12119400,12117960,11983016,11832343,11745332,11694537,10540231,9541601,9435343,9427725,9238658,9110174,9010927,8619474,7687624,7678074,7673728,7545711,7525274,7519480,7512501,2459267,2438369,2436222,2428813,1824699,1740338,1720702,1712233,1711208,1385527,1377029,1376264,8887350,7535292,15327779,19662541,8223854,2433596,11313396,19424617,19344414,19341386,18997004,18954403,18842294,18676748,18579524,18524812,18443552,18374870,18305044,18165780,18158579,17893077,17449467,17395591,17368771,17182573,17167176,16980062,16951684,16908271,16818763,16647457,20638094,20673868,16563273,19364072,19423540,19675582,19681921,19710132,19729796,19781296,19878546,20237496,20406964,20438785,20452482,20339853,20692039,20689133,20727519 2326181,2326170,2326179,2326180,2326167,2326173,2326175,2326168,2293549,2326166 1604 NM_001114752,NM_000574,NG_007465,AB003312,AL391597,AL596218,AY851161,CH471100,M64653,S72858,AB240566,AB240567,AB240568,AB240569,AB240570,AF052110,AK298549,AK300621,AK312448,AY055757,AY055758,AY055759,AY055760,BC001288,BI545505,BT007159,CA432400,CA748776,CR596368,CR596647,CR600235,CR603699,CR611789,CR613044,CR623902,CR624858,DC386415,M15799,M30142,M31516,U88576,HI573864 NP_001108224,NP_000565,BAA22900,CAH72945,CAH72946,CAH72947,CAH72948,CAI16461,CAI16462,CAI16463,CAI16464,AAW29942,EAW93485,EAW93486,EAW93487,EAW93488,EAW93489,EAW93490,EAW93491,EAW93492,EAW93493,EAW93494,EAW93495,EAW93496,EAW93497,EAW93498,EAW93499,AAA52170,AAC60633,BAE97422,BAE97423,BAE97424,BAE97425,BAE97426,BAG60746,BAG62314,BAG35355,AAL25832,AAL25833,AAL25834,AAL25835,AAH01288,AAP35823,AAA52167,AAA52168,AAA52169,AAB48622,P08174,Q14UF2,Q14UF3,Q14UF4,Q14UF5,Q14UF6,Q76N74,Q8TD11,Q8TD12,Q8TD13,Q8TD14,ABM81702,ABM84861,CBX47421 Hs.126517 CR|CROM|DAF|TC CD55 antigen|OTTHUMP00000034400|complement decay-accelerating factor|decay accelerating factor for complement protein-coding 1351887 CD57 CD57 antigen 964 1343400 CD58 CD58 molecule This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 7544493,19506219,19497873,19375175,19268704,19237575,19110536,18820826,17168569,17085486,16830383,16602701,15963548,15093607,12798307,12553064,12496412,12477932,11575926,11051456,10380930,10220497,10200255,10099837,9574540,9510189,9350325,8889548,7545392,7515920,3313052,19109405,3309127,1377404,1757107,7589092,12853962,16169070,20570633,20973039,18650830,19525953,19525955,19834503,19865102,19879194,19898481,20237496,20368992,20806065 965 NR_026665,NM_001779,NM_001144822,AL355794,AL390066,CH471122,CS278854,Y14780,AK125710,AK291980,BC005930,BT019816,BT019817,CA312671,CD365881,CR456939,D28586,S79616,X06296,Y00636,HH979247 NP_001770,NP_001138294,CAI22762,CAI22764,CAI19099,CAI19101,EAW56652,EAW56653,EAW56654,EAW56655,EAW56656,CAJ86521,CAA75083,CAA75084,BAF84669,AAH05930,AAV38619,AAV38620,CAG33220,BAA05922,AAB40000,CAA29622,CAA68668,P19256,Q14748,Q16393,Q9BRW0,CBX51827 Hs.34341 FLJ23181|FLJ43722|LFA-3|LFA3 CD58 antigen, (lymphocyte function-associated antigen 3)|ag3|cd58 antigen, (lymphocyte function-associated antigen 3)|lymphocyte function-associated antigen 3|surface glycoprotein LFA-3 protein-coding 736600 CD59 CD59 molecule, complement regulatory protein This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq] 1600478,1600479,1600482,1600483,1600485,1600486,1600487,1600493,1600494,1600495,1580863,1600500,2326189,2293548,2306066,2326192 12577067,1381503,7691713,9724629,19424617,19380765,19344414,19297024,19254252,19200600,19168743,19131645,19116988,18954403,18842294,18487376,18445344,18443552,18362151,18158579,17671359,17644516,17635812,17585877,17505110,17412968,16908271,16859540,16844690,16602701,16493049,16344560,16341674,16274631,16179371,16032396,15766396,15543155,15489334,15448097,15389819,15351205,15231748,15151618,15147772,14962294,14702039,14635045,14517339,12880676,12646570,12645951,12553064,12477932,12219031,11477359,11095009,10805801,10708443,10341291,9444417,9358772,9238658,9235986,9054419,9053451,8995588,8969267,8889548,8876826,8798614,8789559,8670172,8650218,8526992,8276756,7686996,7683594,7673728,7553895,7544344,7530684,7523406,7520819,7515200,7512825,7505007,2606909,2476718,2475570,2475111,2302178,1702747,1699124,1692709,1689664,1383553,1383132,1382994,1377690,1377404,1376264,1372592,10786997,8887350,9263011,19662541,7539755,16563273,19686460,19737458,19781296,19804910,20212283,20237496,20638094,20689133,20727519 1600478,1600479,1600482,1600483,1600485,1600486,1600487,1600493,1600494,1600495,1600500,2326189,2293548,2306066,2326192 966 BQ230563,BQ440441,BT007104,BU154979,BX475103,CF529941,CR407661,CR541722,CR590164,CR590309,CR591013,CR592290,CR593295,CR593402,CR594142,CR596803,CR598236,CR598573,CR599369,CR599746,CR599940,CR601338,CR603102,CR603898,CR604104,CR604815,CR606593,CR607196,CR607476,CR608201,CR608941,CR608995,CR610314,CR610371,CR610476,CR610753,CR612934,CR612938,CR612964,CR613325,CR614737,CR615105,CR616543,CR616585,CR617737,CR618936,CR619280,CR619669,CR620800,CR622235,CR624551,CR625449,CR625833,CR625964,CR626546,DA250543,DA578905,DA840870,DA917093,M27909,M34671,M95708,X16447,X17198,X84805,NM_203331,NM_203329,NM_203330,NM_001127227,NM_001127223,NM_001127225,NM_001127226,NG_008057,AL049629,CH471064,M84349,Z14113,AI147924,AK128571,AK309894,AK311778,AL037045,AL049957,AL080087,AL703204,AU136899,AU139009,AU139541,AW166662,BC001506,BC033226,BE899630,BG284181,BI752924,BM457931,BM551313,BM680161,BM724931,BM829941,BM911556,NM_000611 AAP35768,CAG28589,CAG46523,AAA60543,AAA51952,AAA60957,CAA34467,CAA35059,P13987,Q6FHM9,ABM92257,ABM84744,ABW03275,NP_000602,NP_976076,NP_976074,NP_976075,NP_001120699,NP_001120695,NP_001120697,NP_001120698,EAW68192,EAW68193,AAA88793,CAA78486,BAG34721,AAH01506 Hs.278573,Hs.709466,Hs.710641 16.3A5|1F5|EJ16|EJ30|EL32|FLJ38134|FLJ92039|G344|HRF-20|HRF20|MAC-IP|MACIF|MEM43|MGC2354|MIC11|MIN1|MIN2|MIN3|MIRL|MSK21|p18-20 1F5 antigen|20 kDa homologous restriction factor|CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)|CD59 glycoprotein|Ly-6-like protein|MEM43 antigen|T cell-activating protein|cd59 antigen|human leukocyte antigen MIC11|lymphocytic antigen CD59/MEM43|membrane attack complex (MAC) inhibition factor|membrane attack complex inhibition factor|membrane inhibitor of reactive lysis|protectin|surface anitgen recognized by monoclonal antibody 16.3A5 protein-coding 1318347 CD5L CD5 molecule-like 1580863 9045627,14718574,19204726,19155514,19116453,18660489,16710414,16344560,16030018,15489334,15340161,12975309,12477932,11981870,8034987,20237496,20379614 922 NM_005894,AL139409,CH471121,AF011429,AF147312,AK292040,AY358494,BC033586,DA957550,U82812,CS538845,CS615452 NP_005885,CAC19458,EAW52859,AAD01446,BAF84729,AAQ88858,AAH33586,AAB91989,O43866,ABM84541,ABM86224,CAM90872,CAO02287 Hs.134035 AIM|API6|PRO229|SP-ALPHA|Spalpha CD5 antigen-like|CD5 antigen-like (scavenger receptor cysteine rich family)|CT-2|apoptosis inhibitor 6|cd5 antigen-like (scavenger receptor cysteine rich family)|igM-associated peptide protein-coding 1351600 CD6 CD6 molecule CD6 is a monomeric 105- or 130-kD membrane glycoprotein that is involved in T-cell activation. The size difference between the 2 CD6 forms is due to differences in phosphorylation (Robinson et al., 1995 [PubMed 7589069]).[supplied by OMIM] 1580863 12493773,1919444,19525953,18707547,17601777,17371992,16914752,16818773,16818742,16344560,16034076,12477932,12473675,9436462,9394826,9013954,7678115,7589069,7543097,3923629,2016320,10899308,20726988,19865102,19879194,20237496,20430450 923 NM_006725,AP003721,CH471076,L78838,U34623,U34625,U66143,U66144,AK126159,AK128419,AK292704,AK312749,BC033755,BC078669,DB147406,DQ786329,DQ786330,U66142,U66145,U66146,X60992 NP_006716,EAW73917,EAW73918,EAW73919,EAW73920,EAW73921,EAW73922,EAW73923,AAL40085,AAL40086,AAL40087,AAL40088,AAL40089,AAA86417,AAA86419,AAC51162,AAC51163,BAF85393,AAH33755,AAH78669,ABH04237,ABH04238,AAC51161,AAC51164,AAC51165,CAA43306,P30203,Q6AZ88,Q8N4Q7,Q8WWJ3,Q8WWJ4,Q8WWJ5,Q8WWJ6,Q8WWJ7 Hs.724071 FLJ44171|TP120 CD6 antigen|T-cell differentiation antigen CD6|T12 protein-coding 735587 CD63 CD63 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. The use of alternate polyadenylation sites has been found for this gene. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq] 2314182,2314188,2314203,1580863 15229288,1993697,8661157,9602068,19458002,19381331,19079288,18669870,18600034,18426873,18321974,18211905,18182005,17827389,17624082,17522207,17390088,17350713,17279322,17275019,16918509,16917503,16908530,16683915,16410552,15711748,15528334,15489334,15375577,15146197,15130945,14660791,12974720,12871315,12826159,12755696,12754519,12610138,12579280,12480921,12477932,12230470,12175627,12036870,11907283,11752456,11739647,11328596,11278880,11204565,11113129,10529602,10436028,10405235,10229664,9822308,9759843,9360996,9360995,9111230,9006891,8871662,8757325,8630057,7682577,7629079,4062294,3365686,2516848,2171551,1879540,1599482,1339263,9271374,19581020,1435334,20237496,20633031,20693981 2314182,2314188,2314203 967 NM_001780,NM_001040034,NG_008347,AC009779,D00874,X62654,AF508304,AK311893,AV650763,BC002349,BC013017,BT007073,BT020137,BT020138,CN296834,CR542096,CR593138,CR596146,CR596402,CR598829,CR600108,CR601904,CR602841,CR604098,CR604975,CR606636,CR609892,CR612079,CR615604,CR617106,CR620394,CR620480,CR623622,CR624383,CR625184,M58485,M59907,S93788,CH471054,X07982 NP_001771,NP_001035123,EAW96827,EAW96828,EAW96829,CAA44519,AAM34259,BAG34834,AAH02349,AAH13017,AAP35736,AAV38939,AAV38940,CAG46893,AAA63235,AAB21617,CAA30792,P08962,Q8N6Z9,ABM82174,ABM85359 Hs.445570 LAMP-3|ME491|MLA1|OMA81H|TSPAN30 CD63 antigen|CD63 antigen (melanoma 1 antigen)|cd63 antigen|granulophysin|lysosomal-associated membrane protein 3|lysosome-associated membrane glycoprotein 3|melanoma 1 antigen|melanoma-associated antigen ME491|melanoma-associated antigen MLA1|ocular melanoma-associated antigen|tetraspanin-30|tspan-30 protein-coding 1314316 CD68 CD68 molecule This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq] 1580863 7680921,19356953,19165649,18316565,17583472,17052752,16888915,16344560,16263699,15638380,15489334,15214825,12676954,12572894,12477932,12429719,12397372,10985244,9790779,9373149,8639768,8125298,20333725,19661345,20374310 968 CR623004,DB187273,S57235,NM_001040059,AC016876,AF060540,CH471108,AK222492,AK222514,AK290238,AK298055,AK301223,AW294871,BC015557,BT009923,BX438711,BX647524,CR598533,CR606850,NM_001251 AAB25811,P34810,ABM92248,ABM84727,NP_001242,NP_001035148,AAC70006,EAW90165,BAD96212,BAD96234,BAF82927,BAG60349,BAG62796,AAH15557,AAP88925 Hs.647419 DKFZp686M18236|GP110|SCARD1 CD68 antigen|cd68 antigen|macrophage antigen CD68|macrosialin|scavenger receptor class D, member 1 protein-coding 1351395 CD69 CD69 molecule This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. Alternative splicing results in multiple transcript variants. 1580863 8340758,19383348,18959746,10441371,8496594,8100776,8026529,7887967,7665567,1612643,8528739,16103171,11438519,9049297,18627570,18593762,17693977,17541278,17237603,16788832,16525420,16396693,15893733,15489334,14728878,12865808,12718936,12626587,12580810,12548561,12540017,12477932,12423306,12398872,12234263,12210415,12077230,11994706,11895929,11101293,11036086,10480634,19430480,19543397,19670272,20054122,20237496,20369839,20378605 969 NM_001781,NR_026671,NR_026672,AC007068,CH471094,Z30426,Z38109,AK291869,AK303174,AK303383,AY238518,BC007037,L07555,Z22576,HI574208 NP_001772,EAW96122,EAW96123,CAA83017,CAA86225,BAF84558,BAG64271,BAG64439,AAO63584,AAH07037,AAB46359,CAA80298,Q07108,Q53ZX0,Q6LAB3,ABM84101,ABM87473,CBX47593 Hs.208854 CLEC2C AIM|BL-AC/P26|C-type lectin domain family 2 member C|C-type lectin domain family 2, member C|CD69 antigen (p60, early T-cell activation antigen)|EA1|GP32/28|MLR-3|activation inducer molecule (AIM/CD69)|cd69 antigen (p60, early t-cell activation antigen)|early T-cell activation antigen p60|early activation antigen CD69|early lymphocyte activation antigen|leukocyte surface antigen Leu-23 protein-coding 1320672 CD7 CD7 molecule This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq] 1580863 11485208,3501369,1695199,3258561,19207946,18956470,18343790,17959857,17287851,16990185,16837044,16332967,15489334,12594831,12477932,12393702,11423532,10652336,10490978,9852078,9480746,9373149,8918688,8871597,8666891,8662072,8125298,2479685,1711009,1703303,19683346,19937140,20046078,20175919,20398252 924 AC132872,CH471099,D00749,M37271,AK223465,AK298096,AK310061,AK310558,AY935534,AY935535,AY935536,AY935537,BC009293,BC013297,BI838777,BI906419,BM917451,BT006696,CR608715,X06180,NM_006137 NP_006128,EAW89763,EAW89764,EAW89765,BAA00646,AAA51953,BAD97185,BAG60381,AAY15454,AAY15455,AAY15456,AAY15457,AAH09293,AAH13297,AAP35342,CAA29546,P09564,Q29VG2,Q29VG3,Q29VG4,Q29VG5,Q53F24,ABM81666,ABM83516,ABM84837,ABM86736 Hs.36972 GP40|LEU-9|TP41|Tp40 CD7 antigen (p41)|T-cell antigen CD7|T-cell leukemia antigen|T-cell surface antigen Leu-9|cd7 antigen (p41)|p41 protein protein-coding 1351721 CD70 CD70 molecule The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq] 1580863 8120384,8387892,9177220,11920585,19573080,19452318,19380782,19109206,19029446,19018300,18256142,18216294,17615291,17548342,17132225,16892042,16751420,15723067,15489334,15188362,15153937,15128787,12926832,12477932,12197885,12100033,12031769,12009595,11980654,11728341,10800994,9862673,9767422,9366422,8690463,8580829,8186199,8120385,7706711,7479974,2163351,20724115,20628624,20568250,12324477,19394279,19556308,19638429,19773279,19955046,20119871,20139096,20201989 970 CR626341,L08096,S69339,NM_001252,AC008760,CH471139,EF064709,AK298467,BC000725,BT007211,HI179090,HI573892 AAP35875,AAA36175,AAB30121,P32970,Q53XX4,NP_001243,EAW69074,EAW69075,ABK41892,BAG60680,AAH00725,CBX47435,CBX53853 Hs.501497,Hs.715224 CD27L|CD27LG|TNFSF7 CD27 ligand|CD27-L|CD70 antigen|Ki-24 antigen|surface antigen CD70|tumor necrosis factor (ligand) superfamily, member 7|tumor necrosis factor ligand superfamily member 7 protein-coding 1320264 CD72 CD72 molecule 1580863 1711157,18071878,17121583,16047337,15588985,15489334,15459183,12882840,12477932,11466342,11114375,10820378,9740800,9590210,9110174,8806810,2141045,2044654,19913121,20628086,17786190,20100931,20237496 971 AB180956,AB180957,AB180958,AB180959,AL357874,CH471071,EF064751,AB209587,AF283777,AK307305,AK309268,AK310093,AK310685,AK311283,BC011734,BC030227,CR589985,DQ174771,M54992,NM_001782,AB180952,AB180953,AB180954,AB180955 BAD72860,BAD72861,BAD72862,BAD72863,BAD72864,CAI13442,CAI13444,CAI13445,EAW58372,EAW58373,ABK41934,BAD92824,AAH30227,ABA55068,AAA36189,P21854,Q0H7P2,Q59F74,Q5T4Q7,Q5T4Q8,Q5TLF7,Q5TLF8,Q5TLF9,Q5TLG0,Q5TLG3,NP_001773,BAD72857,BAD72858,BAD72859 Hs.116481 CD72b|LYB2 B-cell differentiation antigen CD72|CD72 antigen|OTTHUMP00000021342|cd72 antigen|lyb-2 protein-coding 1350471 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain 1580863 10981873,12782713,6324166,19592662,19131591,18941249,18842989,18828016,18719072,18684948,18178838,17959659,17567581,17142775,16678175,16618111,16542748,16428763,16107560,15972644,15845476,15688398,15489334,15475450,12477932,12058053,11927549,11897800,11754812,10748235,10022822,9843486,9752000,8574855,8397411,8343954,8316295,7519244,7477400,6982931,6955026,6586420,6576808,3866610,3459184,3132422,3036998,3001652,2507633,2391366,2121367,1448172,16454711,16365153,16439540,11593029,20820776,20357260,15194762,12970439,16242130,17045821,19423618,19665027,19845895,19849849,20198449,19913121,20628086,20864512 972 NM_001025158,NM_004355,NM_001025159,AC011372,AC011388,CH471062,M13560,X03339,X03340,AK292076,AK297889,AK300669,BC018726,BC024272,BF796148,BT019505,CR590167,CR594737,CR595353,CR596915,CR601246,CR604165,CR608107,CR608306,CR615386,CR616774,CR619151,CR621213,CR621994,CR622356,CR625117,K01144,M28588,M28590,X00497 NP_001020329,NP_004346,NP_001020330,EAW61727,EAW61728,EAW61729,EAW61730,EAW61731,AAA36033,CAA27046,CAA27047,BAF84765,BAG60210,BAG62354,AAH18726,AAH24272,AAV38312,AAA36304,AAA58655,AAA35996,CAA25192,CAA25193,O19685,O78208,P04233,ABM82931,ABM86120 Hs.436568 DHLAG|HLADG|II|Ia-GAMMA CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)|HLA class II histocompatibility antigen gamma chain|HLA-DR antigens-associated invariant chain|HLA-DR-gamma|Ia-associated invariant chain|MHC HLA-DR gamma chain|cd74 antigen (invariant polypeptide of major histocompatibility complex, class ii antigen-associated)|gamma chain of class II antigens|ia antigen-associated invariant chain|ii|p33 protein-coding 1346600 CD79A CD79a molecule, immunoglobulin-associated alpha The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 20102401,19243813,18160827,17701175,17374736,17350472,16271957,15591116,15492262,12651942,12477932,12403343,12186846,11909947,11907094,11449366,10748115,10540352,10438530,9561918,9531288,9418137,9373149,9120258,9110174,8747711,8666916,8656670,8207205,8144961,8125298,8077654,7989333,7927516,7916003,7643857,7592958,7539038,7516335,7514267,7512031,7500027,2463161,1940346,1881434,1591006,1569106,1538135,1534761,1446073,1395095,1292512,12886015,9183005,6196366,14499622,1729378,1639443,15174051,19573080,19883431,20237496,19913121,20628086 973 NM_001783,NM_021601,NG_009619,AC010616,CH471126,L32754,U05259,AK223371,AK315337,BC113731,BC113733,CR592648,CR600210,CR611564,CR617518,CR623680,CR625799,M74721,M80462,M86921,S46706,S75217,S79248,X13451,X83540 NP_001774,NP_067612,EAW57075,EAW57076,AAA57274,AAA20495,BAD97091,BAG37737,AAI13732,AAI13734,AAA60270,AAA59556,AAA59557,AAB23558,AAB20812,AAC60653,CAA31802,CAA58523,P11912,ADR82885 Hs.631567 IGA|MB-1 B-cell antigen receptor complex-associated protein alpha chain|CD79a antigen (immunoglobulin-associated alpha)|MB-1 membrane glycoprotein|ig-alpha|membrane-bound immunoglobulin-associated protein|surface IgM-associated protein protein-coding 730908 CD79B CD79b molecule, immunoglobulin-associated beta The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 633033,1580863 8486355,18029348,18978465,17709424,17701175,17374736,17315213,16847312,15661909,15489334,12651942,12477932,12453414,12393534,12384401,11907094,11389892,9545642,9531288,9521881,9418137,9373149,9120258,8747711,8656670,8555489,8419481,8125298,8077654,7913081,7643857,7592958,7541024,7539038,7538118,7514267,7512031,1591006,1534761,10808179,12482395,12886015,7500027,7516335,19573080,19773279,20237496,19913121,20628086,20568250 633033 974 NM_001039933,NM_021602,NM_000626,NG_007368,AC127029,AF019557,CH471109,L27587,U22954,X83538,AK222954,AK223210,AK313583,BC002975,BC030210,BC032651,CR591997,CR592092,CR599571,CR606875,CR608074,CR617922,CR618467,CR623737,M80461,M89957,S52229,S79249,X83539 NP_001035022,NP_067613,NP_000617,EAW94227,EAW94228,EAW94229,EAW94230,EAW94231,EAW94232,AAA72424,AAA98831,BAD96674,BAD96930,BAG36353,AAH02975,AAH30210,AAH32651,AAA58387,AAA64459,AAB24822,AAC60654,CAA58522,P40259,Q6PIS4 Hs.89575 AGM6|B29|IGB B-cell antigen receptor complex-associated protein beta chain|B-cell-specific glycoprotein B29|CD79b antigen (immunoglobulin-associated beta)|Ig-beta|immunoglobulin-associated B29 protein protein-coding 737082 CD80 CD80 molecule The B-lymphocyte activation antigen B7-1 (formerly referred to as B7) provides regulatory signals for T lymphocytes as a consequence of binding to the CD28 (MIM 186760) and CTLA4 (MIM 123890) ligands of T cells.[supplied by OMIM] 2307200,1580863 15034022,14978077,14975605,14871408,14692664,14530356,12905492,12878356,12860928,12829919,12829914,12800259,12798307,12606712,12569387,12513711,12477932,12444120,12372936,12355442,12352894,12149421,12100477,12097397,12067755,12015893,11936473,11830501,11826754,11751963,9915850,1370389,19433065,19258923,19240061,19056875,19012493,18929847,18802089,18676680,18585785,18577795,18546634,18026115,18005680,17989345,17977894,17953528,17925605,17703412,17524139,17323353,17309825,17201120,16690948,16621031,16521215,16237760,16237059,16002699,15942292,15628695,15598660,15489334,15377288,15342556,15272203,15254772,15254713,15201958,15163715,15110532,15063762,20716621,20802378,20884055,21048031,11741888,11726649,11279502,11222911,11196673,11169444,11168574,11168518,11137584,11123305,11045378,10807504,10661405,9286703,9282998,9250865,8814244,8361751,7545666,7527824,7499425,2794510,1714935,1377173,8086129,7541827,17077296,16454711,16272310,16177101,7589092,15956545,15611322,15610849,20145927,12660731,16818765,17605869,19170196,19550123,19625176,19692168,19811307,19817957,20066438,20118277,20190752,20237496,20331378,20503287,9032261,20601595,20140740,20979791 2307200 941 AC073352,CH471052,M83077,U72535,AK292129,AY081815,AY197777,AY197778,BC042665,BP225173,M27533,NM_005191,EF064750 P33681,Q5DTA9,Q5DTB0,Q6LCB7,NP_005182,EAW79564,EAW79565,AAA58390,AAC51754,BAF84818,AAL89819,AAO39208,AAO39209,AAH42665,AAA36045,ABK41933 Hs.838 B7|BB1|CD28LG|CD28LG1|LAB7 B-lymphocyte activation antigen B7|CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)|CTLA-4 counter-receptor B7.1|OTTHUMP00000215215|T-lymphocyte activation antigen CD80|activation B7-1 antigen|cd80 antigen|costimulatory factor CD80|costimulatory molecule variant IgV-CD80 protein-coding 731700 CD81 CD81 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. [provided by RefSeq] 734728 11273649,11226150,11087758,10459022,10229664,9794763,9403053,9360996,9360995,8816400,8630057,8168850,8039242,7690834,2398277,1860863,1695320,1650385,1383329,16940516,16735575,16682056,16533950,18713730,18851979,12175627,9804823,7636191,10741407,10846074,12604806,11080483,12522210,10729140,15136562,11504738,14676841,18029348,19573080,19476617,19458002,19328198,19284574,19148942,19030166,18981120,18829747,18805782,18799285,18676680,18579606,18566382,18523555,18466772,18382656,18355410,18337570,17942559,17941058,17827389,17784784,17522207,17507469,17457918,17407154,17329343,17194487,17166843,17079294,17079281,17015697,16912317,16735696,16641285,16352525,16339892,16289162,16169070,15956553,15767432,15670777,15500552,15489334,15294858,15280458,15123813,14966136,14728804,14722300,14607925,12970454,12913001,12645944,12597781,12519228,12492902,12483205,12477932,12471100,12437138,12421929,12368358,12210407,12209363,12036870,11781364,11781363,11739647,11673522,11278880,20588308,19170196,19559406,19625176,19626614,19654214,19692168,19755988,19773279,19817957,19828092,19830727,19846809,19901060,20004001,20089661,20237408,20237496,20331378,20375010,20568250,21048031 734728 975 NM_004356,AC124057,AC129929,CH471158,EF064749,AB209380,BC002978,BC093047,BG397506,BQ709484,BT019507,BT019508,CB055265,CR593787,CR595315,CR597052,CR597764,CR597813,CR598183,CR598692,CR599310,CR601869,CR604204,CR604277,CR604916,CR605197,CR608902,CR616730,CR617842,CR618893,CR621738,CR622188,CR625241,M33680,NG_023386 NP_004347,EAX02507,EAX02508,ABK41932,BAD92617,AAH02978,AAH93047,AAV38314,AAV38315,AAA36663,P60033,Q59FS9,ABM82762,ABM82775,ABM85948 Hs.54457 CVID6|S5.7|TAPA1|TSPAN28 26 kDa cell surface protein TAPA-1|CD81 antigen|CD81 antigen (target of antiproliferative antibody 1)|cd 81 antigen|target of antiproliferative antibody 1|target of the antiproliferative antibody 1|tetraspanin-28|tspan-28 protein-coding 1604068 CD82 CD82 molecule This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 2289398,2289401,2289404,2289406,2289422,68869,2289425,2289399,2289403,2289405,2289390,2289391,2289400,2289402,2289407 15205336,1842498,7754374,19371633,19148553,19116362,19107873,19082457,19048121,18981120,18712725,18622748,18415123,18305955,18272501,18037895,18028322,17982617,17621632,17560548,17393117,17215249,17200188,17166843,16861889,16488391,16325219,15996322,15677461,15592684,15557282,15454569,15375577,15259074,15237426,14706010,14576349,12955496,12753720,12750295,12747469,12738793,12684410,12642901,12579280,12477932,12474542,10985391,10749879,10602019,10582691,10229664,9804823,9759843,9373149,9126478,8816400,8757325,8125298,7636191,2065333,1596907,1401919,16735575,10741407,15492270,15829968,11981820,11895916,11839793,11350933,11278880,11162423,20075392,16169070,17520389,17672940,19024519,19497983,19549254,19559406,19656997,19666408,19680475,19755988,19951590,20002769,20089858,20144992,20237496,16712791,19489224 2289398,2289401,2289404,2289406,2289422,68869,2289399,2289403,2289405,2289390,2289391,2289400,2289402,2289407 3732 NM_002231,NM_001024844,AC010768,CH471064,U67266,U67274,AK225410,AK225708,AK312677,AY303776,BC000726,BC001821,BT019761,BT019762,CB127804,CR407650,CR542255,CR593263,CR606617,CR609000,CR615871,S48196,U20770,NG_023234 NP_002222,NP_001020015,EAW68063,EAW68064,EAW68065,AAC51205,BAG35558,AAP76181,AAH00726,AAH01821,AAV38566,AAV38567,CAG28578,CAG47051,AAB23825,AAC50133,P27701,Q6LET0,Q7Z5N2,ABM83228,ABM86427 Hs.527778 4F9|C33|GR15|IA4|KAI1|R2|SAR2|ST6|TSPAN27 C33 antigen|CD82 antigen|inducible membrane protein R2|kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))|metastasis suppressor Kangai-1|tetraspanin-27|tspan-27 protein-coding 1320150 CD83 CD83 molecule 1580863 1378080,8422464,9310491,19321495,19234177,19195701,19130553,18755511,18625638,18292234,15611322,20566323,20861805,17628801,17561858,17535098,17469160,17428858,17197902,17178712,16806233,16484227,16344560,16012714,15905506,15721284,15489334,15454113,15340161,15320871,14962896,14687618,12857898,12594843,12477932,12182451,12072358,11751963,11238630,10567699,9799334,9417921,9373149,8125298,7706722,18056445,15956545,19317050,21076370,19257981,20118277,20237496 9308 BC030830,BT019498,CR457019,CR600901,CR605061,DB178710,Z11697,BC004351,NM_004233,NM_001040280,AL022396,AL133259,CH471087,CQ815388,CQ840966,S53354,AK223315,AK290426,AK307059,AK309541,HI574018,HI574020 AAH30830,AAV38305,CAG33300,CAA77755,Q01151,ABM83282,ABM86489,NP_004224,NP_001035370,CAI20374,CAB96723,EAW55351,EAW55352,EAW55353,CAG32923,CAH05711,AAB25085,BAD97035,BAF83115,CBX47498,CBX47499 Hs.595133 BL11|HB15 B-cell activation protein|CD83 antigen|CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)|cd83 antigen (activated b lymphocytes, immunoglobulin superfamily)|cell surface protein HB15|cell-surface glycoprotein|hCD83 protein-coding 1352472 CD83P CD83 antigen (activated B lymphocytes, immunoglobulin superfamily) pseudogene 387033 1349028 CD84 CD84 molecule Members of the CD2 (see MIM 186990) subgroup of the Ig superfamily, such as CD84, have similar patterns of conserved disulfide bonds and function in adhesion interactions between T lymphocytes and accessory cells.[supplied by OMIM] 11389028,11313386,11238035,10746783,10698700,3008886,11414741,9310491,7797269,18243321,17563375,16710414,16037392,15489334,15245368,12962726,12928397,12621057,12477932,12115647,11689425,11564780,11477068 8832 AF081189,AF081191,AF101031,AF114490,AL138930,CH471121,AF054815,AF054816,AF054817,AF054818,AJ223324,AK296290,AK313496,BC020063,NM_003874,CR541847,CR933666,U82988,U96627,Y12632,CA448708,NM_001184879,NM_001184881,NM_001184882 AAD13155,AAF21784,AAF06840,AAK68906,CAI15158,CAI15159,CAI15160,CAI15161,CAI15162,CAI15163,EAW52707,EAW52708,EAW52709,EAW52710,EAW52711,EAW52712,AAF21721,AAF21722,AAF21723,AAF21724,CAA11264,BAH12304,BAG36278,NP_003865,AAH20063,CAG46645,CAI45963,AAB84364,AAD04232,CAA73181,Q96RX1,Q9UIB8,ABM82634,ABM85798,NP_001171808,NP_001171810,NP_001171811 Hs.398093 DKFZp781E2378|LY9B|SLAMF5|hCD84|mCD84 CD84 antigen (leukocyte antigen)|SLAM family member 5|cd84 antigen (leukocyte antigen)|cell surface antigen MAX.3|hly9-beta|leucocyte differentiation antigen CD84|leukocyte antigen CD84|leukocyte differentiation antigen CD84|signaling lymphocytic activation molecule 5 protein-coding 1604658 CD86 CD86 molecule This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. [provided by RefSeq] 2313906,2313911,2313930,2313917,2313932,2313920,2313939,2307206,2313927 12015893,11986949,11826754,11823047,11751963,11726649,11714768,11702979,11496240,11279501,11238115,11207262,11196673,11169444,11162656,11123305,11029388,11021528,10886401,10464129,9573027,9250865,7694153,7542604,7541777,7527824,7520767,7495740,7489738,17077296,16272310,16177101,15956545,15611322,9915850,7694363,7513726,19299714,19258923,19012493,18941200,18676680,18580477,18577795,18506362,18322188,18301333,18069758,18005680,17989345,17977894,17947667,17925605,17919231,17703412,17622942,17524139,17513529,17386046,16712644,16690948,16339520,16223675,16115907,16002699,15942292,15895390,15628695,15623548,15489334,15280476,15163715,15110532,15059478,15045639,15034022,15019278,14978077,14975605,14871408,14727087,14692664,12905492,12878356,12829914,12672403,12606712,12582153,12513711,12486098,12477932,12372936,12213904,12187923,12100033,12097397,12071705,17963596,20802378,20884055,20971123,21048031,12660731,16818765,17605869,19170196,19257981,19430862,19550123,19625176,19692168,19735272,19852851,20066438,20067533,20100932,20118277,20230296,20237496,20331378,20380573,20433886,20503287,9032261,19913121,20601595,20628086,20732370,20979791 2313906,2313911,2313930,2313917,2313932,2313920,2313939,2307206,2313927 942 NM_175862,NM_006889,AC068630,CH471052,EF064748,U17722,AK291497,AK294663,AK301237,AK313103,AK316203,BC040261,CR541844,CR600347,L25259,U04343 NP_787058,NP_008820,EAW79493,EAW79494,ABK41931,AAA86473,BAF84186,BAH11839,BAH13438,BAG35926,BAH14574,AAH40261,CAG46642,AAA58389,AAB03814,P42081,ABM92234,ABM84713 Hs.171182 B7-2|B70|CD28LG2|LAB72|MGC34413 B-lymphocyte activation antigen B7-2|B7-2 antigen|BU63|CD28 antigen ligand 2|CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)|CTLA-4 counter-receptor B7.2|FUN-1|OTTHUMP00000215513|OTTHUMP00000215514|OTTHUMP00000215515|T-lymphocyte activation antigen CD86|activation B7-2 antigen protein-coding 735285 CD8A CD8a molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a corepressor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains, or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain isoforms. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20644117,20704820,11131152,2470098,2493728,9830036,2496167,18956469,18833003,18695005,18650384,18625635,18483277,18418773,18398508,18156204,18089323,17950725,17678538,17658607,16821115,16818755,16344560,15975922,15927673,15078895,14702039,14559993,14500983,12899833,12594841,12477932,12215456,12124384,11937547,11914379,11729321,11435463,11140838,11102443,10843658,10809759,10623829,10562325,10490978,10444591,10022843,9804427,9790534,9550407,9366416,9331948,9177355,8127870,6605969,6440142,3936473,3918796,3871356,3145195,2877435,2701945,2536941,2509342,1908512,1834739,1676132,1547508,1541829,16454711,16354571,11251883,1377690,1831127,19751272,19752186,19768696,20053942,20237496,20682852 925 NM_001768,NG_011608,NM_001145873,NR_027353,AC064848,CH471053,M26313,M26314,M26315,M27161,AA668685,AK097942,AK124156,AK300089,AY039664,BC025715,CR619549,DA075688,DB129686,M12824,M12828,NM_171827,AC112696 NP_741969,NP_001759,NP_001139345,AAX88864,EAW99438,EAW99439,EAW99440,EAW99441,AAA79218,AAA79217,AAA59674,BAG53555,BAC85789,BAG61892,AAK72403,AAH25715,AAA61133,AAB04637,P01732,Q4ZG17,Q6ZVS2,Q8TAW8,Q96QR6,ABM84249,ABM87637,ABM87638 Hs.85258 CD8|Leu2|MAL|p32 CD8 antigen, alpha polypeptide (p32)|Leu2 T-lymphocyte antigen|OKT8 T-cell antigen|OTTHUMP00000203527|OTTHUMP00000203528|OTTHUMP00000203721|T cell co-receptor|T-cell antigen Leu2|T-cell surface glycoprotein CD8 alpha chain|T-lymphocyte differentiation antigen T8/Leu-2|T8 T-cell antigen|cd8 antigen, alpha chain protein-coding 736307 CD8B CD8b molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigen displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq] 11131152,2493728,9830036,16103193,3145195,18490743,12702212,12477932,12459555,12215456,11937547,10809759,10623829,9550407,8436166,3860845,3264320,3145196,3114136,2536941,2111591,1541829,15980863,16344560,19768696,20379614 926 AW611750,BC100911,BC100912,BC100913,BC100914,BQ004743,M36712,X13444,X13445,X13446,X13452,Y00805,NM_172213,NM_172102,NM_172101,NM_004931,AC111200,AC112696,AY032722,M17514,S55731,S87075,S87083,S87087,S87090,AK303360,AK303595,AW296309,BP392114,DB223179,DC405359,NM_001178100 AAI00912,AAI00913,AAI00914,AAI00915,AAA35664,CAA31795,CAA31796,CAA31797,CAA31803,CAA68750,P10966,Q496E2,Q53QL8,Q8TD28,Q8TD29,Q9UQ56,NP_757362,NP_742100,NP_742099,NP_004922,AAY24019,AAK91556,AAK91557,AAA52283,AAD13877,AAB21668,AAB21671,AAB21672,AAB21670,AAB21669,BAG64420,BAG64610,NP_001171571 Hs.405667 CD8B1|LEU2|LY3|LYT3|Leu2|Ly3|MGC119115|P37 CD8 antigen, beta polypeptide 1 (p37)|T lymphocyte surface glycoprotein beta chain|T-cell surface glycoprotein CD8 beta chain|cd8 antigen, beta chain protein-coding 1348494 CD8BP CD8b molecule pseudogene 8575821,8436166,8346216,3860845,1541829 927 NG_002423,AC108868 A6NJW9 CD8B2 cd8 antigen, beta polypeptide 2, pseudogene (p37) pseudo 732702 CD9 CD9 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It can modulate cell adhesion and migration and also trigger platelet activation and aggregation. In addition, the protein appears to promote muscle cell fusion and support myotube maintenance. [provided by RefSeq] 734730,1580863,2289405,2326197,2289390,2326208,2326206,2326207,2326200 11278880,11504738,7511626,8478605,14575715,2037603,10515286,6198179,19458002,19330835,19254692,18981120,18710926,18544636,18541721,18508921,18483358,18247373,18000614,17668233,17644758,17582603,17522207,17407154,17406028,17393117,17203208,17018612,17015697,16951553,16900214,16682943,16537545,16491954,16297202,16144798,16128989,16103120,15985154,15941914,15591117,15489334,15476162,15389525,15226408,15196249,15145525,15047125,14556650,12579280,12569360,12477932,12453879,12411441,12175627,12086470,12036870,11959120,11920609,11858824,11846885,11739647,11735113,11325968,11238109,11204565,11087758,10711425,10694273,10518536,10459022,20547009,20566742,16341674,10229664,10227388,10065872,9813091,9812906,9804823,9360996,9295027,9111230,8630057,8486348,2358073,1997380,1939101,1879540,1840589,1720807,1377690,16940516,16735575,10741407,15492270,10429193,17845760,20118909,19777564,19896186,19955810,20227387,20237496,8194524,8467233,19559406,20940407,20574531,20727121,20862371,20937409,21036922,21063023,21161334,6792721,8521390,9133457 734730,2289405,2326197,2289390,2326208,2326206,2326207,2326200 928 NM_001769,AC006057,AY422198,CH471116,L08119,L08120,L08121,L08122,L08123,L08124,S60489,AB079244,AK296332,AK296894,AK298431,AK308700,AK311020,AK315219,AY423720,AY966455,BC011988,CR598565,CR599016,CR599322,CR619299,L34068,M38690,X60111,AI003581,BG291377,BM763066,AK309527,HM245393 NP_001760,AAQ87878,EAW88812,EAW88813,AAA51954,AAA51955,AAA51956,AAA51957,AAA51958,AAA51959,AAC60586,BAE71132,BAG59021,BAG59453,BAG60652,AAS00483,AAX78197,AAH11988,AAA59982,AAA80320,CAA42708,P21926,Q56CY1,ABM82240,ABM85424 Hs.114286,Hs.712104 5H9|BA2|BTCC-1|DRAP-27|FLJ99568|GIG2|MIC3|MRP-1|P24|TSPAN-29|TSPAN29 5H9 antigen|BA-2/p24 antigen|CD9 antigen|CD9 antigen (p24)|OTTHUMP00000041575|OTTHUMP00000041576|antigen defined by monoclonal antibody 602-29|cd9 antigen|cell growth-inhibiting gene 2 protein|growth-inhibiting gene 2 protein|leukocyte antigen MIC3|motility related protein|motility related protein-1|motility-related protein|p24 antigen|tetraspanin-29|tspan-29 protein-coding 1351917 CD93 CD93 molecule The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq] 1580863 11781389,15459234,15819698,9047234,11994479,10092817,19372141,19344414,19166692,18834607,18599554,18094537,16381901,15489336,15489334,14702039,12891708,12477932,12213329,12140365,11780052,11256614,11204562,11086025,11076863,10648005,10430665,9777410,9476117,9469455,9136074,8710908,8062452,2212670,1377218,17474147,19423540,19796797,20237496,20406964,20438785 22918 NM_012072,AL118508,CH471133,AB209895,AJ295142,AK056764,AK299957,BC028075,CR611513,U94333 NP_036204,CAC00597,EAX10171,BAD93132,CAC82720,BAG61784,AAH28075,AAB53110,Q59EB6,Q8IXK1,Q9NPY3,CAL38160,CAL38627,ABM81981,ABM85160 Hs.97199 C1QR1|C1qR(P)|C1qRP|CDw93|ECSM3|MXRA4|dJ737E23.1 C1q receptor 1|C1q/MBL/SPA receptor|C1qR|CD93 antigen|complement component 1 q subcomponent receptor 1|complement component 1, q subcomponent, receptor 1|complement component C1q receptor|matrix-remodeling-associated protein 4|matrix-remodelling associated 4 protein-coding 1343806 CD96 CD96 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 1313846,15034010,19056733,17847009,17576927,12477932,9845376,20237496 10225 NM_198196,NM_005816,NG_012156,AC055748,AC092916,CH471052,AK290719,AK315237,AL833681,AW341041,BC020749,BC027914 NP_937839,NP_005807,EAW79696,EAW79697,EAW79698,BAF83408,BAG37664,CAI46155,AAH20749,P40200,Q8WUE2 Hs.142023 DKFZp667E2122|MGC22596|TACTILE CD96 antigen|OTTHUMP00000214645|T cell activation, increased late expression|T-cell surface protein tactile|cell surface antigen CD96|t cell-activated increased late expression protein protein-coding 1313717 CD97 CD97 molecule This gene is a member of the EGF-TM7 family of class II seven-span transmembrane (7-TM) molecules, likely encoded by a gene cluster on the short arm of chromosome 19. The encoded product is a glycoprotein that is present on the surface of most activated leukocytes and spans the membrane seven times, which is a defining feature of G protein-coupled receptors. The protein has an extended extracellular region with several N-terminal epidermal growth factor (EGF)-like domains, which mediate binding to its cellular ligand, decay accelerating factor (DAF, CD55), a regulatory protein of the complement cascade. The presence of structural features characteristic of extracellular matrix proteins and transmembrane proteins suggests that this protein is a receptor involved in both cell adhesion and signaling processes early after leukocyte activation. Alternative splicing has been observed for this gene and three variants have been found. [provided by RefSeq] 1580863,2317573 8955192,11297558,17474147,7636245,19428565,18329191,18267122,17449467,16929497,16818763,16344560,16273233,15576472,15489334,15057824,14702039,14647991,12829604,12477932,12417446,12414513,11380941,11037979,10540231,9764855,9373149,9135025,9064337,8786105,8125298,15498814,20428763,16712791,19737555,20237496,19913121,20628086,20339853,20167235 2317573 976 NM_001025160,NM_001784,AB065966,AC005327,AC008569,CH471106,X94630,AK097264,AK225655,AK225677,NM_078481,AK292159,AK300343,AK304553,AK308368,AK314697,AU117846,AY545551,BC026690,BM545710,CB127827,CR601106,U76764,X84700,HI574004,HI574006,HI574008 NP_510966,NP_001020331,NP_001775,BAC06178,AAC27673,EAW84412,EAW84413,CAA64333,BAG53442,BAF84848,BAG62088,BAG65348,BAG37246,AAH26690,AAB36682,CAA59173,P48960,CBX47491,CBX47492,CBX47493 Hs.466039 TM7LN1 CD97 antigen|cd97 antigen|leukocyte antigen CD97|seven transmembrane helix receptor|seven-span transmembrane protein|seven-transmembrane, heterodimeric receptor associated with inflammation protein-coding 1344139 CD99 CD99 molecule The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. Cyclophilin A binds to CD99 and may act as a signaling regulator of CD99. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 2479542,2465491,19307784,19289593,18849489,18552083,17652531,17471235,17464179,17213182,17202377,16984917,16825498,16713569,16614706,16421247,16361803,16189514,15716602,15528994,15489334,15469477,15388255,15359120,15184883,14744088,14646598,14623115,12832073,12681511,12526082,12508122,12477932,12216109,12172043,11290771,10941840,9720506,9670951,7506950,7464908,6540985,4065101,4058580,3472717,3460334,3442403,2934738,2877492,2456574,19723899,19901887,20197622,20483773,20184665,20453109 4267 CR611199,CR611995,CR612683,CR613006,CR613826,CR613828,CR615331,CR617471,CR620339,DT216927,M16279,U82164,X16996,NM_001122898,NG_009174,AC006209,CH471074,J03841,BC002584,BC003147,BC010109,BC021620,BC024310,CR450286,CR590061,CR598638,CR599137,CR599762,CR605688,CR606510,NM_002414,CR610873,HI179154 AAA02999,AAB58501,CAA34863,P14209,ABM82838,NP_002405,NP_001116370,EAW98697,EAW98698,EAW98699,EAW98700,AAA59848,AAH02584,AAH03147,AAH10109,AAH21620,AAH24310,CAG29282,CBX53885 Hs.653349 HBA71|MIC2|MIC2X|MIC2Y|MSK5X 12E7|CD99 antigen|E2 antigen|MIC2 (monoclonal antibody 12E7)|OTTHUMP00000022843|OTTHUMP00000022844|T-cell surface glycoprotein E2|antigen identified by monoclonal 12E7, Y homolog|antigen identified by monoclonal antibodies 12E7, F21 and O13|cd99 antigen|surface antigen MIC2 protein-coding 1347739 CD99L1 CD99 antigen-like 1 7833914 4196 735542 CD99L2 CD99 molecule-like 2 16381901,15489336,14702039,12975309,12706889,11076863,12477932,11230166,18163232 83692 AY078166,AY078167,AY358837,BC007569,BC013029,BC019857,BC025729,BC030536,CR610005,CR611984,NM_134446,NM_031462,AF002223,AF274573,CH471169,AK023776,AK024278,AK098810,AK125020,AK126859,AK290200,AK291375,AK293244,AK295217,AL136580,AY078165,NM_134445,DC323066,NG_021320,NM_001184808 AAL86617,AAL86618,AAL86619,AAQ89196,AAH07569,AAH13029,AAH25729,AAH30536,Q8TCZ2,Q96E20,CAL38481,CAL38661,ABM82248,ABM85432,NP_604394,NP_604395,NP_113650,EAW99389,EAW99390,EAW99391,EAW99392,EAW99393,EAW99394,EAW99395,EAW99396,BAG54124,BAF82889,BAF84064,BAG56778,BAG58211,CAB66515,NP_001171737 Hs.522805 CD99B|DKFZp761H2024|MIC2L1 CD99 antigen-like protein 2|MIC2 like 1|MIC2-like protein 1|OTTHUMP00000026060|mic2 like 1 protein-coding 1322377 CDA cytidine deaminase This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq] 1580863,2316364,2316365 15713780,15489334,14983087,14744791,14565461,14565460,12844405,12477932,12113294,12107413,10497201,9878810,8422236,8001985,53069,12651944,17207965,20890066,20563566,20608756,20665488,7923172,9596658,15689149,16303324,19293806,18775979,18762567,18600531,18538445,18537153,18347182,17640070,17479107,17464349,17194903,16710414,16507781,16446974,16304576,16169070,19035178,19458626,19536092,19889077,19898482,19941076,20028759,20045991,20173083,20196672,20213492,20453000,20637228 2316364,2316365 978 AF061655,NM_001785,AF061656,AF061657,AF061658,AF095644,AL391357,CH471134,AJ000474,AY634312,BC048284,BC054036,CD675458,L27943,S52873 AAD15828,NP_001776,AAC69599,CAH73474,EAW94931,EAW94932,EAW94933,CAA04113,AAT47715,AAH54036,AAA57254,AAB24946,P32320,Q6GV32,Q71UE9,ADQ33051 Hs.466910 CDD cytidine aminohydrolase|cytidine deaminase|cytosine nucleoside deaminase|small cytidine deaminase protein-coding 1323516 CDADC1 cytidine and dCMP deaminase domain containing 1 16955368,12477932,11752456,16344560 81602 AK312835,AL137554,AY027525,BC009562,BC022801,BC032889,BC048092,BC070238,BC092434,BC125202,BC125203,NM_030911,AL138875,CH471075,DA400049,AK297400,AV648588,DA560379,NM_001193478,NR_036439 EAX08818,EAX08819,BAG35689,CAB70808,AAK16745,AAH09562,AAH32889,AAH48092,AAH70238,AAH92434,AAI25203,Q569J7,Q5TAW8,Q6NSE0,Q9BWV3,EAX08817,NP_112173,CAI10890,CAI10891,EAX08815,EAX08816,BAG59840,NP_001180407 Hs.388220 MGC150615|MGC41774|MGC57136|NYD-SP15|RP11-103J18.2|bA103J18.1 cytidine and dCMP deaminase domain-containing protein 1|protein kinase NYD-SP15|testis development protein NYD-SP15 protein-coding 1315579 CDAN1 congenital dyserythropoietic anemia, type I This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq] 1600473 16169070,19336738,17353931,18575862,18464913,18081704,16767397,15489334,12975309,12477932,12434312,8634422 1600473 146059 NM_138477,NG_012491,AC090510,CH471125,AF525398,AL133019,BC001092,BC008333,BC008334,BC052568,BC066640,BC113821 NP_612486,EAW92576,EAW92577,EAW92578,EAW92579,AAO14994,AAH01092,AAH08333,AAH08334,AAH52568,AAH66640,Q8IWY9 Hs.599232 CDA1|CDAI|DLT|PRO1295 codanin-1|discs lost homolog protein-coding 1348574 CDAN2 congenital dyserythropoietic anemia, type II 9345103 980 1350236 CDAN3 congenital dyserythropoietic anemia, type III 7711721 981 1351187 CDB2 corneal dystrophy of Bowman's layer type II (Thiel-Behnke) 9403072 982 1353969 CDC10L CDC10 cell division cycle 10 homolog (S. cerevisiae)-like 14702039,12477932 285961 NR_027269,AL133216,BC042387,BC048143,BC171738 CAH72053,Q5W161 Hs.406568 CDC10L|bA291L22.2 pseudo 1349682 CDC10P CDC10 cell division cycle 10 homolog (S. cerevisiae) pseudogene 317774 NG_002472,AL121594 CDC10P pseudo 733862 CDC123 cell division cycle 123 homolog (S. cerevisiae) 632556 19020323,8601400,15319434,10942595,19502414,19247373,19139842,19020324,18714373,18591388,18567820,18372903,15489334,15342556,15164054,14702039,12477932,9683532,9373149,8125298,16385451,19602701,19670153,19720844,19741467,19794065,19833888,19933996,20075150,20161779,20379614,20490451,20712903,20816152,20879858,20889853,20927120,20571754,20862305 632556 8872 NM_006023,AL512770,CH471072,AK023925,AK225634,AK289362,AK308790,AW006077,BC001600,BC009598,BP367374,CR456966,CR592461,CR595119,CR595560,CR596007,CR597080,CR623116,D14878,U27112 NP_006014,CAI12495,CAI12496,CAI12497,CAI12498,CAI12499,CAI12500,EAW86317,EAW86318,BAF82051,AAH01600,AAH09598,CAG33247,BAA03593,AAC34738,O75794 Hs.412842 C10orf7|D123|FLJ13863 HT-1080|OTTHUMP00000019108|OTTHUMP00000019110|PZ32|cell division cycle protein 123 homolog protein-coding 1312211 CDC14A CDC14 cell division cycle 14 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq] 16712791,18029348,16221885,9367992,19152073,18235225,17623655,17371873,17172867,16784539,16760464,16344560,15911625,15489334,15263015,12477932,12134069,11901424,11598127,10644693,10409437,14968112,20379614,20477815,20508983,20956543,8889548,20479464 8556 NM_003672,NM_033312,NM_033313,AC104457,AL589990,AY623111,CH471097,AA929031,AB209857,AF000367,AF064102,AF064103,AF122013,AK302310,AK310292,AK310657,BC038979,BC071578,BC093916,BC093918,BU609013,CB156695,DA461435,DA885382,DQ530256 NP_003663,NP_201569,NP_201570,CAH70068,CAH70069,CAH70070,AAT38107,EAW72956,EAW72957,EAW72958,EAW72959,EAW72960,BAD93094,AAB88277,AAC16659,AAC16660,AAD49217,BAG63648,AAH38979,AAH93916,AAH93918,ABF74568,Q59EF4,Q9UNH5 Hs.127411 cdc14|hCDC14 CDC10 (cell division cycle 10, S. cerevisiae, homolog)|OTTHUMP00000012656|dual specificity protein phosphatase CDC14A protein-coding 1322476 CDC14B CDC14 cell division cycle 14 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 18662541,9367992,18547142,18458157,18418058,16344560,15911625,15899858,15362113,12853468,12697818,12477932,12134069,11901424,10644693,9373149,8125298,20479464 8555 NM_033331,NM_001077181,AL133477,AL353578,AY675321,CH471174,AF023158,AF064104,AF064105,AK126388,AK225361,BC050013,CR601692,NM_003671,DA943563,EF611343 NP_003662,NP_201588,NP_001070649,CAI39616,CAI39617,CAI39619,CAI40536,CAI40537,CAI40540,CAI40541,AAT70726,EAW92658,EAW92659,AAB88293,AAC16661,AAC16662,BAG54321,ABR12627,O60729,Q5JU06,AAI56667 Hs.40582 CDC14B3|Cdc14B1|Cdc14B2|hCDC14B OTTHUMP00000021732|OTTHUMP00000215878|OTTHUMP00000215879|dual specificity protein phosphatase CDC14B protein-coding 1604976 CDC14C CDC14 cell division cycle 14 homolog C (S. cerevisiae) 18547142,16201836,12477932 168448 DQ120635,BC028690,BC068452,NR_003595,AC006024,CH236955 EAL23906,ABB92421,A4D256,EAL23905 Hs.567757 CDC14B2|CDC14Bretro|MGC26484 pseudo 1312892 CDC16 cell division cycle 16 homolog (S. cerevisiae) This gene encodes a component protein of the APC complex, which is composed of eight proteins and functions as a protein ubiquitin ligase. The APC complex is a cyclin degradation system that governs exit from mitosis. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein and two other APC complex proteins, CDC23 and CDC27, contain a tetratricopeptide repeat (TPR), a protein domain that may be involved in protein-protein interaction. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 11076961,12956947,11285280,7736578,14593737,15029244,10793135,11256614,11535616,11742988,12070128,10548110,11340163,16964243,16565220,15489334,14702039,14657031,12629511,12477932,12196507,12029633,11691834,11179667,10922056,10500174,10477750,10318877,9628895,9469815,9405394,18997788,16319895,11739784,12686615,16364912,18485873,20056645,20508983 8881 AK095082,AK296424,AK315302,AL540490,BC010875,BC017244,BC050575,CR626847,U18291,NM_001078645,NM_003903,AL160396,AY599074,CH471085,AB209850,AF164598 BAG59086,BAG37707,AAH10875,AAH17244,AAC50200,Q13042,Q59EG1,Q5T8C6,Q7Z651,NP_001072113,NP_003894,CAI15810,CAI15811,CAI15812,AAS94323,EAX09237,EAX09238,EAX09239,EAX09240,EAX09241,EAX09242,EAX09243,EAX09244,EAX09245,BAD93087,AAD45156 Hs.374127 ANAPC6|APC6|CUT9 CDC16Hs|OTTHUMP00000018782|OTTHUMP00000018787|OTTHUMP00000018788|anaphase-promoting complex subunit 6|anaphase-promoting complex, subunit 6|cdc16 cell division cycle 16 homolog (s. cerevisiae)|cell division cycle protein 16 homolog|cyclosome subunit 6 protein-coding 731889 CDC2 cell division cycle 2, G1 to S and G2 to M The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1358139,2316488,2314685,2316317,2701900,2715645,2683526,2776427,2708463,2711357,2296067,2756028,2722465 7969176,11069302,11574543,11285280,10793135,1717476,9001210,10395539,1384126,1828290,7799941,11598127,12791267,16109376,19369249,19303298,19223178,19158392,19066288,19061641,19048596,18950845,18799590,18635963,18593881,18568422,7673335,7666531,7635160,7592773,7590285,7578274,7499230,7494303,7474100,7474080,3553962,3289755,2686978,2570636,2541912,2538242,2473839,2344612,2227411,2183353,1939057,1916766,1756735,1748630,1425574,1406653,1400350,1388288,1318195,1310466,914146,17011204,8524869,15050687,16354571,15725353,15578977,15265780,15142377,15817944,15780175,17679094,9891079,18245089,18655026,12124778,7876309,10747892,10362260,8242750,10864927,14499622,11326318,10884347,10502411,15367677,15082718,15989971,15735702,15525513,8475101,7737117,8423786,15782160,8662825,15674323,10766737,8070405,8463339,10767298,10764745,10716937,10656688,10636877,10602502,10564259,10524633,10504341,10497277,10403367,10373560,10077596,9990288,9988268,9926943,9753325,9733650,9725910,9614189,9600099,9585407,9575153,9560267,9525956,9524113,9520381,9515786,9467962,9398320,9315091,9295339,9271440,9268380,9247342,9244350,9242535,9235942,9188632,9141461,9130708,9126608,9109675,9094673,8910336,8806671,8672508,8652557,8631817,8626512,8565853,8548803,8491187,8440392,8428596,8404858,8376365,8325880,8127873,8125092,8119945,8087847,8084605,8051175,8051108,8034666,7983050,7949095,7944411,7925482,7902715,7822264,7724583,7716549,20395957,16998479,20974812,20935635,21041660,20526282,18550795,18490441,18480403,18450493,18434602,18408765,18372919,18356527,18347064,18337751,18272575,18272572,18247328,18230152,18201571,18195732,18056802,18029348,18025303,18003885,17960875,17636382,17525531,17498878,17488622,17474786,17472438,17466630,17419986,17386261,17373700,17359356,17351640,17242184,17192257,17172867,17171635,17159347,17098733,17043241,17013563,17012222,16888198,16880739,16880735,16807237,16784539,16682949,16629900,16565220,16533053,16519687,16478538,16474839,16465393,16458891,16427064,16407259,16381901,16377132,16371510,16258277,16247472,16237118,16198290,16192727,16159883,16142332,16118207,16036217,15951569,15888452,15790566,15767402,15735705,15678101,15662526,15635413,15604258,15592455,15591787,15582998,15541388,15531913,15525677,15489336,15489334,15474478,15345747,15317660,15311285,15215233,15181148,15175024,15145941,15125835,15073847,15030318,15024056,15016823,15014043,14993212,14697231,14654553,14645578,14635192,14551205,12912980,12884029,15368451,12881709,12853968,12839990,12832492,12810701,12775724,12771130,12742823,12676926,12648761,12613668,12612056,12604359,12586835,12569365,12569090,12556484,12551973,12525641,12477932,12468530,12450396,12411508,12407107,12397081,12372621,12200623,12186947,12177195,12151413,12145207,12110603,12107172,12077309,12058066,11986303,11953320,11901153,11895447,11878934,11861764,11836499,11782384,11779217,11774038,11687586,11683421,11584018,11559705,11549262,11531413,11504921,11470801,11444800,11331587,11327730,11310559,11278991,11278541,11259605,11135364,11113184,11113134,11076863,10973963,10958988,10938080,10924145,10921877,10825186,10769027,17540176,17681274,18069625,11076968,12221128,12721286,12852856,15800651,1628647,16344560,16385451,16462731,16760428,17274640,17327911,17349584,18329369,19375851,19473963,19509060,19615732,19683496,19687009,19723060,19725879,19737929,19786724,19789190,19837665,19884882,19917720,20062077,20068230,20068231,2013279,20171170,20181698,20360007,20368335,20368358,20404109,20412769,20508983,7769006,7790358,20379221,20974803,15276183,20739936,20808790,19454010,20937773,21081492,10712923,11520933,9069267,20169205,20711190,20733055,20439461,20444701 2316488,2314685,2316317,2701900,2715645,2683526,2776427,2708463,2711357,2296067,2756028,2722465 983 NM_001786,NM_033379,AC022390,AF512554,CH471083,AK291939,BC014563,BC107750,BF685285,BG723076,BT007004,BU633268,CR595214,CR597955,CR603310,D88357,X05360,Y00272,CR933728,AA459484,AK295741,AW976143,DA823877,NM_001170406,NM_001170407 NP_001777,NP_203698,AAM34793,EAW54204,EAW54205,EAW54206,EAW54207,EAW54208,EAW54209,EAW54210,BAF84628,AAH14563,AAI07751,AAP35650,BAA26001,CAA28963,CAA68376,P06493,Q5H9N4,CAI46271,CAL37461,CAL37925,CAL38165,CAL38602,BAH12172,NP_001163877,NP_001163878 Hs.334562 CDC2|CDC28A|CDK1|DKFZp686L20222|MGC111195|P34CDC2 OTTHUMP00000019660|cell cycle controller CDC2|cell division control protein 2 homolog|cell division cycle 2 homolog a (s. pombe)|cell division cycle 2, G1 to S and G2 to M|cell division protein kinase 1|p34 protein kinase protein-coding 731833 CDC20 cell division cycle 20 homolog (S. cerevisiae) CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq] 632471,1580863 19282672,15694304,20624902,20526282,11030144,14743218,17353931,17719540,18022367,11285280,9682218,14593737,12791267,11535616,11742988,12070128,15469984,7513050,19197151,19154722,19117984,19098431,18997788,18953566,18591651,18471975,17908926,17873905,17598981,17388661,16795040,16777988,16710414,16572426,16497171,15761153,15701830,15623561,15525512,15489334,15388328,15280373,14657031,12887895,12477932,12198152,12196507,11988738,11976684,11907259,11891222,11804586,11553328,11389834,11274370,10700282,10679238,10377410,10366450,9811605,9736712,9734353,9637688,9628895,9373149,9353311,8125298,16751065,14607335,14561775,11707408,11438673,12956947,11459826,15916961,12456649,10318877,17443180,17443186,17679094,18162579,18592005,19426592,19738611,19826003,20053638,20054826,20733051,16287863,16319895,16479161,19336002,20739533,20729194,11459825 632471 991 NM_001255,AL139289,CH471059,DQ473545,AF099644,AK225504,AK302539,AK303844,AK312780,BC000624,BC001088,BC006272,BC009425,BC009426,BC010044,BC012803,BC012827,BC013303,BC015998,BC024257,BC031294,BC110321,BT007388,CR591723,CR593228,CR599336,CR601346,CR604441,CR607618,CR608726,CR608787,CR611701,CR614624,CR615732,CR616813,CR617348,CR622481,U05340 NP_001246,CAB92757,EAX07101,EAX07102,ABE96834,AAD16405,BAG63811,BAG64787,BAG35643,AAH00624,AAH01088,AAH06272,AAH09425,AAH09426,AAH10044,AAH12803,AAH12827,AAH13303,AAH15998,AAH24257,AAH31294,AAI10322,AAP36052,AAA19017,Q12834,ABM83216,ABM86415,ACE87227,ACE86546 Hs.524947 CDC20A|MGC102824|bA276H19.3|p55CDC CDC20 cell division cycle 20 homolog|OTTHUMP00000008572|cell cycle protein p55cdc|cell division cycle protein 20 homolog protein-coding 1602643 CDC20B cell division cycle 20 homolog B (S. cerevisiae) 16344560,14702039,12477932 166979 NM_152623,NM_001145734,AC091977,CH471123,AB077043,AB077044,AB081750,AB086378,AK095246,BC037547,BC136572,DA434860,AI471861,DB237622,NM_001170402 NP_689836,NP_001139206,EAW54901,EAW54902,EAW54903,EAW54904,EAW54905,EAW54906,EAW54907,BAC67701,BAB97393,BAC67702,BAC67705,BAC04508,AAH37547,AAI36573,Q86Y33,NP_001163873 Hs.669184 FLJ37927|G6VTS76519 CDC20 cell division cycle 20 homolog B|CDC20-like protein|OTTHUMP00000222381|cell division cycle protein 20 homolog B protein-coding 1605274 CDC20P cell division cycle 20 homolog (S. cerevisiae) pseudogene 9682218 157956 NG_001560,AL513318 CDC20P pseudo 1312484 CDC23 cell division cycle 23 homolog (S. cerevisiae) The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq] 1580863 12629511,11285280,12188893,14657031,14593737,15029244,10793135,9790767,11535616,11742988,12070128,10548110,11340163,17081983,16964243,16565220,16189514,15489334,15345747,15302935,12477932,11256614,10922056,10500174,10318877,9469815,9373149,8125298,18162579,18997788,12956947,11076961,16364912,18485873 8697 NM_004661,AC106752,AY603103,CH471062,AB011472,AF053977,AF191341,AK223250,AK291610,AK304635,BC005258,BC010944,BC017713,BT009810 NP_004652,AAS99353,EAW62154,EAW62155,EAW62156,BAA75628,AAC70920,AAF05755,BAD96970,BAF84299,BAG65414,AAH05258,AAH10944,AAH17713,AAP88812,Q9UJX2,ABM82612,ABM85796 Hs.73625 ANAPC8|APC8|CUT23 anaphase promoting complex subunit 8|anaphase-promoting complex subunit 8|cdc23 (cell division cycle 23, yeast, homolog)|cell division cycle protein 23 homolog|cyclosome subunit 8 protein-coding 731492 CDC25A cell division cycle 25 homolog A (S. pombe) CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,2743964,2764000,2729590,2734052,2771824,2296067,2754551,2715645 8617791,8276402,7744247,7667636,7644510,1836978,18495657,9278511,9891079,15311285,10766737,20462953,20639859,20614206,17292828,12791985,11139144,18029348,1828290,10454565,12399544,19367581,19305144,19062161,19060337,19013180,18980975,18927589,18794133,18676680,18566993,18480045,18316586,18204780,18167338,18073536,17912454,17671423,17545210,17172867,17018577,17001315,16912045,16720623,16644029,16598773,16189514,15798217,15572030,15489334,14767575,14727060,14681206,14673957,14657354,14603323,14559997,14517313,12963847,12801928,12759351,12738732,12676925,12676583,12477932,12411508,12388094,12234927,12110582,11912208,11805096,11752153,11585757,11584018,11416155,11106571,10926775,10827953,10740819,10454584,10373531,10373478,9989807,9858615,9779991,9707427,9604936,9466490,9230211,8668211,20217459,20956543,11298456,15161933,19170196,19289404,19417033,19555767,19615732,19621387,19625176,19692168,19738433,19738611,19833767,20090422,20228808,20348946,20368335,20379614,20453000,20606298,19966869 2743964,2764000,2729590,2734052,2771824,2296067,2754551,2715645 993 NM_001789,AC104190,AC124916,AF112978,AF527417,AJ242714,CH471055,AF277722,AI917350,AK290554,AY137580,BC007401,NM_201567,BC018642,BQ065803,BX392016,M81933,EU812118 NP_963861,NP_001780,AAM77917,EAW64849,EAW64850,EAW64851,EAW64852,AAG41884,BAF83243,AAN11305,AAH07401,AAH18642,AAA58415,P30304,ABM81679,ABM83845,ABM87167,ACI43572 Hs.437705 CDC25A2 CDC25A2-CAG isoform|M-phase inducer phosphatase 1|cell division cycle 25A|cell division cycle 25a|dual specificity phosphatase CDC25A protein-coding 1604653 CDC25B cell division cycle 25 homolog B (S. pombe) CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq] 2739695,4105451,4105454,4105449,2729590 10713667,10543950,10444066,10403798,9733650,9585407,9278511,9268380,9141461,8468065,8440392,7667636,7644510,1662986,11333986,17336969,17106257,17018577,17003105,16861915,16082213,15908796,15629715,15550849,15489334,15311285,15173315,15150265,15128871,15003534,14767575,14702039,14559803,12764136,12681290,12569365,12527891,12477932,12400006,12107172,11780052,11689696,10822367,10740819,17548358,20500813,17353931,9188863,1836978,8276402,15456846,1828290,19308021,18676680,18635965,18559558,18235220,18089784,17651784,17599046,17591782,17292828,17554300,19170196,19615732,19625176,19638579,19692168,19738611,19801682,20025242,20128929,20176018,20508983,20956543,20801879 2739695,4105451,4105454,4105449,2729590 994 NM_021872,NM_004358,AF036233,AL109804,AY494082,CH471133,X96436,AK092713,AK124284,AK295573,AK299028,AK299192,BC006395,BC009953,BC051711,BX640836,BX647988,CR591656,CR615304,CR620818,CR621743,M81934,S78187,Z68092,NM_021873,FR695901,FR695900 NP_068659,NP_068658,NP_004349,AAB94622,AAB94623,AAB94624,AAB94625,CAC17548,CAC17549,CAI18847,AAR26469,EAX10491,EAX10493,EAX10494,EAX10496,EAX10498,EAX10499,CAA65303,BAG52600,BAG58472,BAG61105,BAG61235,AAH06395,AAH09953,AAH51711,CAE45909,AAA58416,AAB21139,CAA92108,O43550,P30305,CBX26628,CBX26629,Q6MZW8,Q7LDQ7 Hs.153752 M-phase inducer phosphatase 2|cell division cycle 25B|dual specificity phosphatase Cdc25B protein-coding 1323559 CDC25C cell division cycle 25 homolog C (S. pombe) This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. [provided by RefSeq] 1580863,2774210,4105450,4105452,4105448,2729590,4105453,2756028,4105455 20514472,20500813,20668692,8402895,8119945,7494303,7479023,7474100,1836978,1703321,1386342,16751065,15638722,15265780,15142382,11969417,15284440,11604498,15735702,15766665,8432534,10037602,16330544,17110335,17349584,11078813,12791985,11139144,1828290,2195549,10330186,11063929,9278512,11897663,12766774,19074854,18838868,18676680,18604163,18551998,18464119,18384749,18272575,18272572,18161793,18056802,17611691,17591782,17548228,17419986,17382881,17097061,16964243,16807237,16649252,16648550,16582626,16582488,16356754,16344560,16000564,15887239,15791647,15708996,15574328,15489334,15150265,14972559,14968113,14702039,12941695,12937170,12857880,12595692,12477932,12386164,12175337,12110603,12099692,11933156,11925443,11896603,11842186,11836499,11691994,11551930,11531413,11389730,11337467,11333986,11304565,11202906,10921877,10864927,10853038,10744722,10740819,10681541,10557092,9923681,9733650,9585407,9520381,9499405,9482729,9278511,9268380,9141461,8440392,14532005,15161933,16753148,19074885,19170196,19473963,19625176,19626602,19692168,20025242,20360007,20453000,20508983,9154803,9543386 2774210,4105450,4105452,4105448,2729590,4105453,2756028,4105455 995 NM_022809,NM_001790,AC104116,AY497474,CH471062,Z29077,AF086323,AF277723,AF277724,AF277725,AF277726,AF312681,AJ304504,AK097710,AK301828,AU098899,BC019089,CR590865,CR595730,CR605066,CR618165,DB040755,M34065 NP_073720,NP_001781,AAR32098,EAW62145,EAW62146,EAW62147,EAW62148,EAW62149,EAW62150,AAG41885,AAG41886,AAG41887,AAG41888,AAL26835,CAC19192,BAG63273,AAH19089,AAA35666,P30307,Q9H2F0,ACE87715,ACE87029 Hs.656 CDC25 M-phase inducer phosphatase 3|OTTHUMP00000159490|OTTHUMP00000224012|OTTHUMP00000224013|OTTHUMP00000224016|cell division cycle 25C|cell division cycle 25c|dual specificity phosphatase CDC25C|mitosis inducer CDC25|phosphotyrosine phosphatase protein-coding 1322746 CDC26 cell division cycle 26 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq] 1580863 11285280,14593737,15029244,10793135,10922056,11535616,11742988,12070128,10548110,11340163,15489334,15164053,12477932,8895471,12956947,17207965,16364912,18485873 246184 NM_139286,AL449305,CH471090,AF503918,BC042534,BC066300,BF244254,BQ446788,CA446805,CD685602 NP_644815,CAI10967,EAW87360,EAW87361,AAM34207,AAH42534,AAH66300,Q8NHZ8,ADQ32968 Hs.727648 ANAPC12|APC12|C9orf17 CDC26 subunit of anaphase promoting complex|anaphase promoting complex subunit 12|anaphase-promoting complex subunit 12|anaphase-promoting complex subunit CDC26|cell division cycle 26|cell division cycle protein 26 homolog protein-coding 1353454 CDC26P cell division cycle 26 homolog (S. cerevisiae) pseudogene 12690205 729948 NG_011774,AC009244,CH236950 CDC26P pseudo 1312639 CDC27 cell division cycle 27 homolog (S. cerevisiae) The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eucaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and thus may be involved in controlling the timing of mitosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16648845,17719540,11285280,7736578,14593737,15029244,10793135,11256614,11535616,11742988,12070128,10548110,11340163,17827148,16565220,16344560,15489334,15252450,14657031,15342556,12853486,12797865,12477932,12429948,12196507,11691834,11524682,10939594,10922056,10500174,10477750,10318877,10037602,9736712,9618490,9499405,9469815,9405394,8619132,8234252,7756179,12956947,14561775,15280373,15082755,15916961,11076961,12686615,16364912,17187060,17474147,17679094,18485873,18662541,18997788,19615732,20508983,9628895,9637688,9811605,18029348,16479161 996 NM_001256,NM_001114091,AC002558,AY518321,CH471231,AU135593,BC011656,BI548077,BP234964,CR613932,DQ786193,S78234,U00001,AK296881,AK299342,CR610883 NP_001247,NP_001107563,AAR89911,EAW57686,EAW57687,EAW57688,EAW57689,AAH11656,AAB34378,AAA60471,P30260,ABM83706,ABM87026,BAG59442,BAG61343 Hs.463295 ANAPC3|APC3|CDC27Hs|D0S1430E|D17S978E|HNUC|NUC2 CDC27 homolog|H-NUC|anaphase promoting complex subunit 3|anaphase-promoting complex subunit 3|anaphase-promoting complex, protein 3|cell division cycle 27|cell division cycle protein 27 homolog|nuc2 homolog protein-coding 3539738 CDC27P1 cell division cycle 27 homolog (S. cerevisiae) pseudogene 1 647696 AC097532,NG_021586 pseudo 3077626 CDC27P2 cell division cycle 27 homolog (S. cerevisiae) pseudogene 2 100130277 AC010970,NG_021910 pseudo 1604656 CDC2L1 cell division cycle 2-like 1 (PITSLRE proteins) This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported. [provided by RefSeq] 14623875,14511641,12477932,12082095,11709559,9632733,9580558,15963510,16169070,16413544,17643375,19538938,19854136,19884882,20508983,12501247,12624090,17353931,9750192,8195233,1639388,10882096,18651850,17698582,17081983,16964243,15883043,15489334,15345747,15330758,15302935,15175163,14684736,14675149,9115219,7920654,7777541,2217177,1774066,18029348 984 XM_001714086,XM_003120344,AL691432,NM_033486,NM_033487,NM_033492,NM_033493,NM_033489,NM_033488,AF080683,CH471183,BC009375,BC139777,BC140714,BC171773,CR600892,CR617963,CR619853,U04816,U04817,U04818,U04824,M88563,AF067512,AF067513,AF067514,AF067515,AF067516,AF067517,AF174497,AK000081,AK301495,AK303446,AK303451,AK304679 XP_001714138,XP_003120392,NP_277022,NP_277021,NP_277027,NP_277028,NP_277024,NP_277023,AAC83662,AAC83663,AAC83664,AAC83665,AAC83666,EAW56170,EAW56171,EAW56172,AAH09375,AAI39778,AAI40715,AAI71773,AAA19582,AAA19583,AAA19584,AAA19586,P21127,Q6PK02,EAW56173,AAB59449,AAC72077,AAC72078,AAC72079,AAC72080,AAC72081,AAC72082,AAF36538,BAG63006,BAG64491,BAG64496,BAG65451 Hs.651228,Hs.709182 CDC2L1|CDC2L2|CDK11|CDK11-p110|CDK11-p46|CDK11-p58|CLK-1|FLJ59152|PK58|p58|p58CDC2L1|p58CLK-1 CDC-related protein kinase p58|PITSLRE serine/threonine-protein kinase CDC2L1|PITSLREA|cell division cycle 2-like 1 (PITSLRE proteins)|cell division cycle 2-like 2 (PITSLRE proteins)|cell division cycle 2-like protein kinase 1|cell division protein kinase 11B|cell division protein kinase 11B-like|galactosyltransferase-associated protein kinase p58/GTA|p58 CLK-1 protein-coding 1604655 CDC2L2 cell division cycle 2-like 2 (PITSLRE proteins) This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L1, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L1, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions, which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L1 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Many transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of only two have been determined so far. [provided by RefSeq] 12501247,15231747,9750192,1639388,10882096,8195233,19245811,19122208,17606997,17177267,17081983,16710414,16462731,16039607,16004605,15963510,15883043,15330758,15302935,14511641,12624090,12477932,11980906,11683997,11506180,11181995,9740677,9632733,9580558,9115219,7920654,7777541,2217177,1774066,14623875,12446680,18029348,19520772,19884882,20508983 728642 BC104661,BC110905,CR606630,DC388505,U04819,U07704,U07705,NM_033529,AF080694,AF080695,AF080697,AF092426,AL031282,AL691432,CH471183,NM_024011,AB209095,AF067518,AF067519,AF067520,AF067521,AF067522,AF067523,AF067524,AF067526,AF067527,AF067528,AF067529,AL043340,BC014464,BC028187,BC054019,BC062579,BC094827,XM_002346361,XM_003120339,XM_003120340,XM_003120341,XM_003120342,XM_003120343 AAH94827,AAI04662,AAI10906,AAA19585,AAA19594,AAA19595,Q05C84,Q3SWV2,Q4VBY6,Q59GL4,Q5QPQ9,Q5QPR3,Q5QPR4,Q96CA8,Q9UQ88,NP_076916,NP_277071,AAC95297,AAC95298,AAC95299,AAC95300,AAC95301,AAC95302,AAC95303,AAC95304,EAW56161,EAW56162,EAW56163,EAW56164,EAW56165,EAW56166,EAW56167,EAW56168,BAD92332,AAC72083,AAC72084,AAC72085,AAC72086,AAC72087,AAC72088,AAC72089,AAC72091,AAC72092,AAC72093,AAC72094,AAH14464,AAH28187,AAH62579,CAI20030,CAI20031,CAI20032,CAI20033,CAI20034,CAI20035,Q6P5Y5,XP_002346402,XP_003120387,XP_003120388,XP_003120389,XP_003120390,XP_003120391 Hs.651228,Hs.709182 CDC2L2|CDC2L3|CDK11-p110|CDK11-p46|CDK11-p58|MGC131975|PITSLRE|p58GTA OTTHUMP00000000762|OTTHUMP00000000764|OTTHUMP00000000767|OTTHUMP00000000768|PITSLRE B|PITSLRE protein kinase beta|PITSLRE serine/threonine-protein kinase CDC2L2|cell division cycle 2-like 2 (PITSLRE proteins)|cell division cycle 2-like protein kinase 2|cell division protein kinase 11A|galactosyltransferase-associated protein kinase p58/GTA protein-coding 1322573 CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller) The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. Some of the cell cycle control kinases are able to phosphorylate proteins that are important for cell differentiation and apoptosis, thus provide connections between cell proliferation, differentiation, and apoptosis. Proteins of this family may also be involved in non-cell cycle-related functions, such as neurocytoskeleton dynamics. The exact function of this protein has not yet been determined. It has unusually large N- and C-termini and is ubiquitously expressed in many tissues. Two alternatively spliced variants are described. [provided by RefSeq] 1580863 1731328,17081983,16964243,16730941,16721827,15635413,15302935,15231748,15144186,14702039,12853948,12477932,11347906,11162436,9847074,9373149,8125298,14968112,19884882,8889548 8621 NM_003718,NM_031267,AC006023,AC072061,AY679523,CH236951,CH471073,AB058694,AJ297709,AJ297710,AK025500,AK092534,AK223053,BC001274,BC080601,BF707421,BX647326,M80629,AK130653,BM699295,BM727913,BU686489,CR748837 NP_003709,NP_112557,AAD54514,AAS07490,AAS07491,AAT74623,EAW94128,EAW94129,EAW94130,EAW94131,EAW94132,EAW94133,BAB47420,CAC10400,CAC10401,BAD96773,AAH01274,AAA58424,Q14004,Q53G78,Q9BVE2,AAI68380 Hs.233552 CDC2L|CDC2L5|CHED|FLJ35215|KIAA1791 CDC2-related protein kinase 5|cell division cycle 2-like protein kinase 5|cell division protein kinase 13|cholinesterase-related cell division controller protein-coding 1343762 CDC2L6 cell division cycle 2-like 6 (CDK8-like) This gene encodes a protein that is one of the components of the Mediator coactivator complex. The Mediator complex is a multiprotein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. [provided by RefSeq] 737633 17353931,18029348,18216018,17516030,15489334,15175163,14574404,12477932,12168954,10470851,12501247,19884882,20379614,20408451 737633 23097 NM_015076,AL512430,AL603914,CH471051,Z84480,AB028951,AJ420571,AK292360,AK300567,AL122055,AY028424,BC024247,BC036637,BC037289,BC047513,BX647699 NP_055891,CAI41172,CAI41173,CAI41175,EAW48312,CAI20520,BAA82980,BAF85049,BAG62273,CAB59186,AAK27731,AAH24247,AAH37289,Q5JQZ9,Q9BWU1,Q9UFE3,CAI40282,CAI40283,CAI40286 Hs.726041 CDC2L6|CDK11|KIAA1028|bA346C16.3 CDC2-related protein kinase 6|CDK8-like cyclin-dependent kinase|OTTHUMP00000017006|OTTHUMP00000017007|cell division cycle 2-like 6 (CDK8-like)|cell division cycle 2-like protein kinase 6|cell division protein kinase 19|cyclin-dependent kinase (CDC2-like) 11|cyclin-dependent kinase 11|death-preventing kinase protein-coding 1313428 CDC34 cell division cycle 34 homolog (S. cerevisiae) The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq] 1580863 17274640,8248134,19240061,19126550,18950845,18458088,17698585,17597759,17461777,16210246,16123592,15652359,15489334,14645576,12477932,12037680,11689688,11675391,11546811,11054541,10918611,10871850,10769200,10713156,10385629,10373550,10329681,9710583,9430629,9367342,8939846,19123975,10531035,18029348,19549727,19615732,19875449,19945379,20347421,20353940,20378537,20379614 997 AC011531,AC011556,AY650399,CH471242,AK291554,BC002332,BC009850,BC018143,BC023979,BT006659,CR594373,CR601841,CR602219,CR602363,CR621389,L22005,NM_004359 NP_004350,AAT46688,EAW61190,EAW61191,BAF84243,AAH09850,AAH18143,AAH23979,AAP35305,AAC37534,P49427,ABM81664,ABM84836,ABM85578 Hs.514997 E2-CDC34|UBC3|UBCH3|UBE2R1 cell division cycle 34|ubiquitin carrier protein|ubiquitin-conjugating enzyme E2 R1|ubiquitin-conjugating enzyme E2-32 KDA complementing|ubiquitin-conjugating enzyme E2-CDC34|ubiquitin-protein ligase R1 protein-coding 732258 CDC37 cell division cycle 37 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq] 1580863 8666233,16280321,19091746,19073599,18931700,18922470,18089825,18003639,17728246,17223712,16949366,16611982,16381901,16156789,16132836,15850399,15647277,15592455,15489336,15489334,15082798,15001580,14743216,14718169,14701845,14668798,12930845,12907640,12489981,12477932,12437126,12176997,11916974,11864612,11413142,11256614,11085988,11076863,11036079,10858314,10617616,10022854,9685350,9242486,9150368,8885235,8703009,17353931,15643424,18029348,19615732,19858214,20056645,20159553,20299663,9660753,20562859 11140 CR590644,CR590824,CR590949,CR591154,CR591546,CR592579,CR592585,CR593113,CR594743,CR595404,CR597104,CR597588,CR597971,CR599394,CR600266,CR601406,CR603075,CR603671,CR604115,CR604866,CR605910,CR605956,CR606284,CR607160,CR608539,CR608792,CR609165,CR611463,CR612537,CR613761,CR614005,CR615081,CR615317,CR616393,CR616599,CR616815,CR618219,CR619955,CR619982,CR620168,CR621344,CR622181,CR622926,CR623169,CR623653,CR624877,CR625450,U43077,U63131,AC011548,AC011557,AC134304,AY864824,CH471106,BC000083,BC008793,BC141928,BC141929,BE796008,BT006796,CR542249,NM_007065,BC127212,BC127213 AAB63979,AAB04798,Q16543,Q6FG59,CAL38163,CAL38227,ABM83100,ABM86295,NP_008996,AAW34362,EAW84101,EAW84102,EAW84103,AAH00083,AAH08793,AAI41929,AAI41930,AAP35442,CAG47045,AAI27213,AAI27214 Hs.160958 P50CDC37 CDC37 (cell division cycle 37, S. cerevisiae, homolog)|CDC37 cell division cycle 37 homolog|hsp90 chaperone protein kinase-targeting subunit|hsp90 co-chaperone Cdc37 protein-coding 1319564 CDC37L1 cell division cycle 37 homolog (S. cerevisiae)-like 1 CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM] 1580863 18052042,15850399,12477932,11413142,9373149,8125298,17207965 55664 NM_017913,AL136231,CH471071,AK000497,AK000646,AK225510,BC014133,CR598577,CR615490 NP_060383,CAC12705,CAI41270,EAW58782,BAA91206,BAA91304,AAH14133,Q7L3B6,ADQ31696 Hs.561954 CDC37B|FLJ20639|HARC|RP11-6J24.5 CDC37 cell division cycle 37 homolog-like 1|Hsp90-associating relative of Cdc37|OTTHUMP00000021002|hsp90 co-chaperone Cdc37-like 1 protein-coding 2303436 CDC37P1 cell division cycle 37 homolog (S. cerevisiae) pseudogene 1 15616553,12477932,10493829 390688 NG_009463,AC002544,AC145285 AAC27427 A-761H5.2 pseudo 2303454 CDC37P2 cell division cycle 37 homolog (S. cerevisiae) pseudogene 2 11413142 647015 NG_009466,AC138894 pseudo 1316032 CDC40 cell division cycle 40 homolog (S. cerevisiae) Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq] 1580863 12226669,19420964,17081983,15761153,15489334,14702039,14574404,12477932,11991638,11102353,9830021,9769104,9373149,9303539,8889548,8125298,7568168,9524131 51362 NM_015891,AL445068,AL671518,CH471051,AB208903,AF015044,AF038392,AF061241,AK001426,AK222721,AK295055,AK314601,BC111061,BC117145,BC126114,CB242479,CR620928 NP_056975,CAI22519,CAI13321,CAI13322,CAI13323,CAI13324,EAW48319,EAW48320,EAW48321,EAW48322,EAW48323,EAW48324,BAD92140,AAD01552,AAC39730,AAC25166,BAD96441,BAG58104,BAG37172,AAI11062,AAI17146,AAI26115,O60508,Q2TA76,Q53H60,Q59H56,Q5SRM9,Q5SRN1,ADR83227 Hs.428147 EHB3|FLJ10564|MGC102802|PRP17|PRPF17 EH-binding protein 3|OTTHUMP00000016996|OTTHUMP00000016997|OTTHUMP00000040437|PRP17 homolog|cell division cycle 40 homolog (yeast)|hPRP17|pre-mRNA splicing factor 17|pre-mRNA-processing factor 17 protein-coding 730976 CDC42 cell division cycle 42 (GTP binding protein, 25kDa) The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 2311087,2293876,2293879 11943145,11907271,11889037,11884513,11839748,11822867,11773441,11756552,11696321,11672528,11584276,11583574,11438723,11394904,11287617,11284700,11278572,11257000,11130076,10975523,10967094,10954711,10954424,10934474,10873802,10818149,10799524,10799501,10749885,10747870,10733591,10724160,10713100,10676816,10551883,10490598,10480361,10320322,10211824,10068673,10051605,11035016,10587647,10816584,11260256,11584266,16407834,19596003,19463088,19454477,19416857,19356586,19307303,19273597,19109421,19039103,19001128,18974134,18937283,18922799,18838868,18835169,18728402,18656530,18628988,18586681,18575765,18565850,14505571,18552504,18541705,18541478,18541383,18432521,18403635,18348980,18334926,18325348,18319301,18287089,18245474,18245386,18235104,18057010,18056353,18056264,18045877,17976533,17971488,17702745,17693642,17664338,17567985,17538024,17521326,17517067,17513786,17513457,17356711,17346701,17301947,17300218,17115031,17074883,17038317,16930532,16880514,16864657,16849480,16710414,16443932,16322481,16253996,16246732,16228294,16204230,16201754,16189514,16169070,15901767,15833843,15822942,15821030,15803130,15793569,15728253,15723050,15713627,15652341,15649357,15616194,15489334,15472119,15361624,15355962,15304341,15287724,15265891,15194684,15187089,15133042,15123662,15123659,15121898,15102814,15075243,15023524,14970210,14733946,14701795,14699061,14676191,14656933,14563854,12972601,12960248,12960245,12928366,12915445,12901880,12900413,12887923,12887922,12887916,12860998,12824775,12769846,12767056,12612085,12595527,12584113,12547822,12511425,12477932,12453877,12432077,12426222,12376551,12369824,12270144,12235133,12181570,12172552,12115629,12093730,12032833,12006984,11998687,11973651,11948177,9860974,9822598,9799233,9786927,9760238,9748241,9742969,9705280,9642115,9582072,9535835,9427749,9422512,9381982,9268338,9262406,9220962,9210375,9182573,9113980,9079650,8969170,8943016,8889548,8798539,8756646,8755667,8702968,8670801,8625410,8107774,8034624,7744004,7738010,7665558,7629060,7547927,7513047,2496687,2124704,2122236,1956381,1898776,16687395,16356860,10713183,8994833,14597672,10366564,11162552,17353931,10781580,12110184,9535855,8643625,12650940,9490022,9407060,12504591,11432776,11431473,12857875,12819203,12446789,10854437,14749388,15147912,15260990,14530271,12944407,15864311,15735674,12606577,15652748,12538863,20215637,20067638,20545942,20530489,20806065,20730103,20936779,21036919,15923648,10360578,10360579,10802735,11090627,12421766,12456510,12745076,12879077,15451670,15824104,15834156,16293614,16983070,17254974,19435802,19473971,19561083,19622753,19635823,19640983,19641023,19667218,19692568,19709124,19710257,19718053,19726670,19752396,19778949,19787194,19819966,19826000,19933840,19934222,20056178,20130240,20403997,7493928,9032261,9082982,9338791,9418861,9660763,9846874 2311087,2293876,2293879 998 BC003682,BC002711,BC018266,BC018622,BM684474,BP871988,CR590120,CR595708,CR596776,CR601442,CR623987,M35543,M57298,NM_001039802,NM_001791,NM_044472,AL031281,AY673602,CH471134,CS026525,AF498962,AF498963,AK297465,AK303994,AK311375,AK316449,AL121734,AL121735,AL121736,AL121737 AAH03682,AAH02711,AAH18266,AAA52494,AAA52592,P60953,Q5JYX0,Q9UJM0,Q9UJM1,ABM82121,ABM85303,CAB57328,NP_001034891,NP_001782,NP_426359,CAB52602,CAD92551,CAI19851,AAT70721,EAW95002,EAW95003,EAW95004,EAW95005,EAW95006,EAW95007,EAW95008,EAW95009,CAI61729,AAM21109,AAM21110,BAG59887,BAG64911,BAH14820,CAB57325,CAB57326,CAB57327 Hs.467637 CDC42Hs|G25K G25K GTP-binding protein|GTP-binding protein, 25kD|OTTHUMP00000002834|OTTHUMP00000002927|cell division control protein 42 homolog|dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD))|dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD))|growth-regulating protein|small GTP binding protein CDC42 protein-coding 1351605 CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq] 20936779,9092543,11283256,9418861,18263588,17344417,16710414,16412980,15723050,12568720,12477932,12018391,11929873,11340065,10958655,10947843,10737800,10652353,10559936,10198171,9455484,11399775,15194684,20188707 8476 NM_014826,NM_003607,AL353689,AL451047,AL627308,CH471098,AB007920,AB208968,AF250871,AJ518975,AJ518976,AK027000,AK130237,AY166586,BC008677,BC038993,BC047547,BC050335,BC136333,BF765241,BQ232716,BX648219,CR933723,U59305,BX648693,BC127831 Q8IWQ7,Q9H5K7,Q9NYF6,AAI56893,NP_055641,NP_003598,CAI19107,CAI19108,CAI19109,CAI19110,CAI19111,CAI19112,CAI19113,CAH71183,CAH71184,CAH71185,CAH71336,CAH71337,CAH71338,EAW69806,EAW69807,EAW69808,EAW69809,BAA32296,BAD92205,AAF66437,CAD57745,CAD57746,BAB15619,AAN86031,AAI36334,CAI45998,CAI46252,AAB37126,Q5HYB0,Q5T799,Q5T7A0,Q5T7A7,Q5VT25 Hs.35433 DKFZp686L1738|DKFZp686P1738|FLJ23347|KIAA0451|MRCK|MRCKA|PK428 CDC42 binidng protein kinase beta|CDC42-binding protein kinase alpha (DMPK-like)|DMPK-like alpha|MRCK alpha|OTTHUMP00000035730|myotonic dystrophy kinase-related CDC42-binding kinase alpha|myotonic dystrophy kinase-related CDC42-binding protein kinase alpha|myotonic dystrophy protein kinase-like alpha|ser-thr protein kinase PK428|ser-thr protein kinase related to the myotonic dystrophy protein kinase|serine/threonine-protein kinase MRCK alpha protein-coding 1351337 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq] 20936779,10198171,14702039,17353931,9418861,18263588,17081983,15489334,12477932,12168954,10574461,20177145,20379614 9578 AK094920,AK126684,BX647753,NM_006035,AL117209,AL133455,CH471061,DQ355971,AB032950,AF128625,BC047871,BC048261,BC155541,BX248752 NP_006026,EAW81800,EAW81801,ABC67469,BAA86438,AAD37506,AAH47871,AAH48261,AAI55542,CAD66559,Q86TR8,Q86XZ8,Q9Y5S2,AAI56937 Hs.654634 DKFZp686H1431|FLJ37601|FLJ44730|KIAA1124|MRCKB CDC42-binding protein kinase beta (DMPK-like)|DMPK-like beta|MRCK beta|myotonic dystrophy kinase-related CDC42-binding kinase beta|myotonic dystrophy protein kinase-like beta|serine/threonine-protein kinase MRCK beta protein-coding 1350948 CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) 18029348,15194684,9341881,9253601 55561 NM_017525,AP001187,CH471076,AY648038,BI793270,Y12337 NP_059995,EAW74316,AAT67172,CAA73006,Q6DT37 Hs.293590 DMPK2|HSMDPKIN|KAPPA-200|MRCKgamma CDC42-binding protein kinase gamma|DMPK-like gamma|MRCK gamma|myotonic dystrophy kinase-related CDC42-binding kinase gamma|myotonic dystrophy protein kinase like protein|myotonic dystrophy protein kinase-like alpha|myotonic dystrophy protein kinase-like gamma|serine/threonine-protein kinase MRCK gamma protein-coding 1322427 CDC42EP1 CDC42 effector protein (Rho GTPase binding) 1 CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq] 1580863 11035016,18029348,17081983,16344560,16189514,15574879,15489334,15461802,15345747,12665801,12477932,10591208,10490598,10430899,1629197,20936779 11135 NM_152243,AL022315,CH471095,AK292190,BC009356,CR456524,DA047271,M88338 NP_689449,CAB42833,EAW60164,EAW60165,EAW60166,BAF84879,AAH09356,CAG30410,AAA36606,Q00587,CAK54555,CAK54854,ABM84385,ABM87281 Hs.225356 BORG5|CEP1|MGC15316|MSE55 55 kDa bone marrow stromal/endothelial cell protein|binder of Rho GTPases 5|cdc42 effector protein 1|serum constituent protein|serum protein MSE55 protein-coding 1321045 CDC42EP2 CDC42 effector protein (Rho GTPase binding) 2 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of, CDC42. Coexpression of this protein with dominant negative mutant CDC42 protein in fibroblast was found to induce pseudopodia formation, which suggested a role of this protein in actin filament assembly and cell shape control. 1580863 15489334,14702039,12477932,10490598,9253601,11035016,10430899,11584266,16395716,18541383,20936779 10435 NM_006779,AF548903,AP000944,CH471076,AF001436,AF098290,AF163840,AK098292,AK315444,BC022337,BC075834,BT020004,CR609836,CR614190 NP_006770,AAN39381,EAW74374,AAB81206,AAD16185,AAD48784,BAG53607,BAG37832,AAH22337,AAH75834,AAV38807,O14613,ABM82914,ABM86104 Hs.343380 BORG1|CEP2 CRIB-containing BOGR1 protein|binder of Rho GTPases 1|cdc42 effector protein 2 protein-coding 1314141 CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of, CDC42. This protein can interact with CDC42, as well as with the ras homolog gene family, member Q (ARHQ/TC10). Expression of this protein in fibroblasts has been shown to induce pseudopodia formation. [provided by RefSeq] 18541383,20936779,21116278,20385374,11035016,11256614,17081983,16381901,16189514,16169070,15815621,15489336,15489334,15345747,14702039,12477932,11584266,11230166,11076863,10490598,9535835,20881960 10602 NM_006449,AC006369,CH471053,AF094521,AF104857,AF164118,AK128735,AK313483,AL136842,AL538577,AL567387,BC019270,BQ432066,BT007190,CR603357 NP_006440,AAX93072,EAX00390,AAC71773,AAD16888,AAD48815,BAG54721,BAG36267,CAB66776,AAH19270,AAP35854,Q9UKI2,CAL38536 Hs.369574 BORG2|CEP3|FLJ46903|UB1 CRIB-containing BORG2 protein|MSE55-related Cdc42-binding protein|MSE55-related protein|OTTHUMP00000201951|OTTHUMP00000203201|OTTHUMP00000203202|binder of Rho GTPases 2|cdc42 effector protein 3 protein-coding 1323093 CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4 The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq] 1580863 11035016,17081983,16189514,15761153,15489334,15226823,14702039,12477932,11185749,10490598,20936779,17207965,17643375,18029348 23580 NM_012121,AC087301,CH471099,AB042237,AF099664,AK027385,AK097835,AK312536,AL162074,BC002774,BC010451,BE387060,BI560730 NP_036253,EAW89123,EAW89124,BAB17272,AAD16299,BAG51313,BAG53539,BAG35435,AAH02774,AAH10451,Q9H3Q1,ADQ32045 Hs.3903 BORG4|CEP4|KAIA1777|MGC17125|MGC3740 binder of Rho GTPases 4|cdc42 effector protein 4 protein-coding 1318117 CDC42EP5 CDC42 effector protein (Rho GTPase binding) 5 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of, CDC42. The specific function of this protein has not yet been determined. [provided by RefSeq] 11035016,15489334,12477932,11584266,10490598 148170 NM_145057,AC008746,CH471135,CU207370,CU467002,BC024327,BC065910,BQ677020 NP_659494,EAW72252,CAQ52436,CAQ08958,AAH24327,AAH65910,Q6NZY7 Hs.415791 Borg3|CEP5|MGC21945|MGC71153 1700027J19Rik|2010007O02Rik|binder of Rho GTPase 3-like|binder of Rho GTPases 3|cdc42 effector protein 5 protein-coding 1343898 CDC42P1 cell division cycle 42 pseudogene 1 170503 NG_001032,AL356299 bK3216D2.3 pseudo 2293180 CDC42P2 cell division cycle 42 pseudogene 2 643336 NG_007652,AC099681,CH471201 EAW50974 pseudo 1346360 CDC42SE1 CDC42 small effector 1 1580863 18541383,20936779,10816584,15840583,15342556,12477932,12421766 56882 NM_020239,NM_001038707,AL590133,CH471121,AF187845,AF286041,AF286592,BC012796,BC041604,BP340339,BX339337,CR600921,CR601047,CR605469 NP_064624,NP_001033796,CAI13349,EAW53477,EAW53478,EAW53479,AAF87597,AAF97248,AAG17723,AAH12796,AAH41604,Q9NRR8,ABM85120 Hs.22065 SCIP1|SPEC1 1300002M12Rik|CDC42 small effector protein 1|CDC42-binding protein SCIP1|signaling molecule SPEC1 beta|small effector of CDC42 protein 1|small protein effector 1 of Cdc42 protein-coding 1343863 CDC42SE2 CDC42 small effector 2 1580863 10816584,18804346,17030554,16344560,15840583,12477932,9110174,8619474,16712791 56990 AC004777,AC008497,AC009016,AC114275,CH471062,AF131831,AF189692,AI440226,AK025620,AK312406,BC023555,BC050430,BC058909,BC096703,BC096738,BC098349,BI460220,BI522591,CB135092,CR599493,CR626635,DA321488,NM_020240,NM_001038702 NP_001033791,EAW62372,EAW62373,AAF87598,BAG35319,AAH96703,AAH96738,AAH98349,Q9NRR3,NP_064625 Hs.508829 FLJ21967|SPEC2 CDC42 small effector protein 2|OTTHUMP00000222551|non-kinase Cdc42 effector protein SPEC2|small effector of CDC42 protein 2 protein-coding 1352573 CDC45L CDC45 cell division cycle 45-like (S. cerevisiae) The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Multiple polyadenlyation sites of this gene are reported. [provided by RefSeq] 1580863 10518787,12791985,9660782,18029348,15226314,15707391,19074885,19054765,18347181,18239674,17887956,17767920,17608804,17573775,17557111,17046832,16912045,15489334,15461802,15232106,12975309,12614612,12477932,10051334,9914182,9724329,16341674,19805216,20065034,20124417,20379614 8318 NM_003504,AC000082,AC000087,AC000088,AY572790,CH471176,AF053074,AF062495,AF081535,AJ223728,AK293123,AK293338,AK302590,AK303274,AY358971,BC006232,BC010022,BM751026,BT006792,CR591338,CR594150,CR603724,CR604288,CR608720,CR619108,CT841513,NM_001178010,NM_001178011 NP_003495,AAS66985,EAX03036,AAC27289,AAC67521,AAD08998,CAA11530,BAG56675,BAG56854,BAG63843,BAG64354,AAQ89330,AAH06232,AAH10022,AAP35438,CAJ86443,O75419,CAK54407,CAK54706,ABM92238,ABM83577,ABM84716,ABM86816,NP_001171481,NP_001171482 Hs.474217 CDC45|CDC45L|CDC45L2|PORC-PI-1 CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like|CDC45 cell division cycle 45 homolog|CDC45 cell division cycle 45-like|CDC45-related protein|OTTHUMP00000197247|cell division control protein 45 homolog|cell division cycle 45-like 2|human CDC45 protein-coding 731949 CDC5L CDC5 cell division cycle 5-like (S. pombe) The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq] 8917598,18722174,18029348,19240061,18583928,18567798,18330920,17353931,17081983,16216881,15489334,15324660,15232106,14729942,14702039,14576297,14574404,14515018,12927788,12477932,12168954,11991638,11544257,11329013,11101529,11082045,10827081,10570151,9731529,9632794,9598309,9468527,9455477,9038199,20467437,16332694,17148452,19633697,19641227 988 NM_001253,AL133262,AL353588,AY518540,CH471081,AB007892,AK128737,AK299738,BC001568,BG187521,BG497404,CR594844,D85423,U86753 NP_001244,CAI20149,CAI40750,AAR89913,EAX04270,BAA24862,BAG54722,BAG61633,AAH01568,BAA20885,AAB61210,Q99459,ABM82549,ABM85740 Hs.485471 CDC5|CDC5-LIKE|CEF1|KIAA0432|PCDC5RP|dJ319D22.1|hCDC5 CDC5 (cell division cycle 5, S. pombe, homolog)-like|Cdc5-related protein|Cell division cycle 5, S. pombe, homolog-like|cell division cycle 5-like (s. pombe)|cell division cycle 5-like protein|dJ319D22.1 (CDC5-like protein)|pombe cdc5-related protein protein-coding 1319341 CDC6 cell division cycle 6 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq] 20606534,15887248,8990175,10995389,15232106,9566895,10339564,10436018,11095689,11125146,11931757,12045100,15226314,15707391,19520769,19343071,19321444,19233139,19189662,19107233,19101572,19074885,18640135,18617514,18458079,18397887,18259842,18048387,18006835,17689530,17567951,16801388,16572177,16439999,16055707,15696126,15590906,15489334,14749377,14672932,14517333,12912926,12614612,12554670,12538639,12477932,12429841,12151338,12006585,11846807,11779870,11346650,11046155,10899308,10629059,10464337,10214964,9925618,9889196,9857179,9778043,9774682,9520412,15050687,18162579,15684404,15861133,10766737,20800603,21041660,21048031,12791985,18761675,19154794,19950599,20048340 990 NM_001254,AB010492,AC080112,AJ009560,AY150310,CH471152,CQ789346,AA210818,AF022109,AK313620,BC025232,BE296640,BE548194,BF203219,CR598029,U77949 NP_001245,AAN10296,EAW60650,EAW60651,CAG24445,AAC52071,BAG36382,AAH25232,AAB38317,Q99741,ABM83766,ABM87086 Hs.405958 CDC18L|HsCDC18|HsCDC6 CDC18 (cell division cycle 18, S.pombe, homolog)-like|CDC6 cell division cycle 6 homolog|CDC6-related protein|cdc18-related protein|cdc6 cell division cycle 6 homolog (s. cerevisiae)|cell division control protein 6 homolog|cell division cycle 6 protein|p62(cdc6) protein-coding 1318070 CDC7 cell division cycle 7 homolog (S. cerevisiae) This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq] 1580863 15232106,12791985,9405610,17102137,9250678,10846177,15226314,15707391,19647517,19278428,19111665,19054765,18714392,18625709,18286467,17711849,17062569,17046832,16899510,16864800,16826239,16710414,16446360,16344560,16082200,15668232,15489334,15474462,15466207,12614612,12477932,12065429,11568184,10523313,10373557,9573348,8889549,19318489,19426592,19864417,19896697,20548946,20707412,16912045,20819778 8317 AI672674,AK298963,AK312726,AY312583,BC110526,BC110527,BC111044,DA127303,DA791490,N62245,NM_001134419,NM_001134420,AC021075,AC098691,AL355871,AY585721,CH471097,AB003698,AB209337,AF005209,AF015592,NM_003503 BAH12913,BAG35599,AAR16187,AAI10527,AAI10528,AAI11045,O00311,Q59FX2,Q6JSD6,NP_003494,NP_001127891,NP_001127892,CAI14445,CAI14446,AAS79323,EAW73114,EAW73115,BAA19962,BAD92574,AAB97512,AAC52080 Hs.533573 CDC7L1|HsCDC7|Hsk1|MGC117361|MGC126237|MGC126238|huCDC7 CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1|CDC7-related kinase|cdc7 cell division cycle 7 (s. cerevisiae)|cell division cycle 7-like protein 1|cell division cycle 7-related protein kinase protein-coding 1323393 CDC73 cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq] 16307923,17643375,18469135,19169472,19332451,20026646,16448924,16116486,16061557,15956079,15923622,15635413,15632063,15613436,15580289,15531515,15489334,15070940,15046109,15046107,15046105,15046102,15046098,15046094,15046050,14985403,14985373,14715834,14702039,14585940,12960210,12477932,12434154,11951180,11318611,9373149,8125298,7717405,16169070,16630820,17113272,19474519,19351817,19136632,19081034,19058032,19017757,18987311,18755853,18687124,18436011,18338208,18217513,18080135,17923126,17555500,17404568,17314275,17138574,17130827,16989776,16728578,16710414,20304979,20541447,20052758 79577 NG_012691,NM_024529,AL139133,AL390863,CH471067,AF312865,AI638120,AK026969,AK226038,AK300929,AK314772,BC007325,BC013075,BC014351,BC065037,BM471846,BU428536,DC298135 NP_078805,CAH71049,CAH71589,EAW91250,AAG45339,BAB15608,BAG62559,BAG37309,AAH07325,AAH14351,AAH65037,Q6P1J9,ACE87305,ACE86624 Hs.378996 C1orf28|FLJ23316|HPTJT|HRPT2|HYX cell division cycle protein 73 homolog|hyperparathyroidism 2 protein|parafibromin protein-coding 1322226 CDCA2 cell division cycle associated 2 16998479,18029348,16492807,14702039,12477932,12188893,20379614,20188555 157313 NM_152562,AC103779,AK092164,AK098670,AK292505,AL833396,AL833627,BC015691,BC036214,BC063651,BC085609,BC104450,BC104451,BG354575,BG716934,BM802460,BX649008,R95735,AK299278 NP_689775,BAG52490,BAC05374,BAF85194,CAH10585,CAH10577,AAH36214,AAH63651,AAH85609,AAI04451,AAI04452,Q69YH5,BAH12991 Hs.33366 FLJ25804|MGC129906|MGC129907|Repo-Man OTTHUMP00000125276|cell division cycle-associated protein 2|protein phosphatase 1 [gamma] (PPP1R3A) binding protein Repo-Man|recruits PP1 onto mitotic chromatin at anaphase protein protein-coding 1345166 CDCA3 cell division cycle associated 3 16189514,15733861,14702039,12679038,12477932,12188893,9074930,8723724,20416077 83461 NM_031299,CH471116,CS185564,U47924,AK092246,AK291421,AK312843,BC002551,BC036512,CD106434,CR621398 NP_112589,EAW88728,EAW88729,CAJ42745,AAB51327,BAF84110,BAG35696,AAH02551,AAH36512,Q99618 Hs.524216 FBXO52|GRCC8|MGC2577|TOME-1 cell division cycle-associated protein 3|gene rich cluster, C8|gene-rich cluster protein C8|trigger of mitotic entry 1|trigger of mitotic entry protein 1 protein-coding 1348557 CDCA4 cell division cycle associated 4 This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulaton of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq] 18572021,18498124,16984923,15489334,15146197,14702039,12477932,12188893,11482882 55038 NM_017955,NM_145701,AL512356,AL512802,CH471061,AF322239,AK000771,AK303947,BC011736,BC025263,BG354577,BG703331,CN427719,CR594141,CR601657,CR605313,CR606097,CR607330,CR620051 NP_060425,NP_663747,EAW81894,EAW81895,EAW81896,EAW81897,AAK31075,BAA91373,BAG64875,AAH11736,AAH25263,Q9BXL8,ABM84334,ABM87725 Hs.34045 FLJ20764|FLJ52878|HEPP|MGC19517|SEI-3/HEPP cell division cycle-associated protein 4|hematopoietic progenitor protein protein-coding 1350338 CDCA5 cell division cycle associated 5 1580863 12188893,16169070,11111111,18029348,15837422,17361102,17349791,17081983,16964243,15489334,15146197,14702039,12477932,20379614,20551060 113130 NM_080668,AP003068,CH471076,AK093670,AK291490,AL832526,BC011000,CN332525,CR614636 NP_542399,EAW74342,EAW74343,BAG52747,BAF84179,AAH11000,Q96FF9,ABM84177,ABM87579 Hs.434886 MGC16386|SORORIN cell division cycle-associated protein 5|p35|sororin protein-coding 1353399 CDCA6 cell division cycle associated 6 BG354579 1319671 CDCA7 cell division cycle associated 7 This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 11598121,16580749,16344560,15994934,15815621,15489334,14702039,12477932,12188893,9373149,8125298,17207965 83879 NM_031942,NM_145810,AC092573,CH471058,AK027628,AK027642,AK075134,AK223524,AK297097,AK297245,AK300949,AL833728,AL834186,AY029179,BC015124,BC027966,CR612922,CR619535,DA531905 NP_114148,NP_665809,AAX82003,EAX11158,EAX11159,EAX11160,EAX11161,BAB55245,BAB55258,BAC11425,BAD97244,BAG59610,BAG59725,BAG62578,CAH56253,CAH56357,AAK31591,AAH15124,AAH27966,Q9BWT1,ADQ32287 Hs.470654 FLJ14722|FLJ14736|JPO1|MGC34109 c-Myc target JPO1|cell division cycle associated protein 7|cell division cycle-associated protein 7 protein-coding 1602109 CDCA7L cell division cycle associated 7-like 17207965,18029348,20189936,17669426,17081983,16829576,16735438,16728402,16565220,15994933,15654081,15489334,14702039,12853948,12690205,12477932,7829101,16344560 55536 NM_018719,NM_001127370,AC074379,AC099653,CH236948,CH471073,AA922229,AK022955,AK095965,AK292490,AK300781,AL359619,AL576822,AY161168,AY161169,BC009352,BC014630,NM_001127371,BC025242,BC032576,BC039823,BI493265,BU753973,BX112809,BX422040,DA041070,DC331792 NP_001120843,NP_061189,NP_001120842,AAS02007,EAL24271,EAW93740,EAW93741,EAW93742,EAW93743,EAW93744,BAB14330,BAG53177,BAF85179,BAG62445,CAB94887,AAO17570,AAO17571,AAH09352,AAH14630,ADQ33006,AAH25242,AAH32576,AAH39823,Q96GN5 Hs.520245,Hs.725198 DKFZp762L0311|JPO2|R1|RAM2 cell division cycle-associated 7-like protein|transcription factor RAM2 protein-coding 1346860 CDCA8 cell division cycle associated 8 CDCA8 is a component of a chromosomal passenger complex required for stability of the bipolar mitotic spindle (Gassmann et al., 2004 [PubMed 15249581]).[supplied by OMIM] 16239925,16291752,18946085,18311593,17956729,17881355,17716930,17483322,17241471,16571674,16565220,16547492,16436504,16427043,15635413,15561729,15489334,15260989,15249581,14702039,12477932,12188893,9373149,8125298,18243099,18591255,19530738,19710015,19951914,20739936,18029348,17207965 55143 AC104336,CH471059,AK001330,AK022104,AK022606,AK026423,AK222549,AK222568,AK291917,AK302116,AY508815,BC000703,BC001651,BC008079,BC016944,NM_018101,CR617852 Q53HL2,NP_060571,EAX07324,EAX07325,BAA91629,BAB13961,BAB14125,BAD96269,BAD96288,BAF84606,BAG63495,AAR91699,AAH00703,AAH01651,AAH08079,AAH16944,ADQ31660 Hs.524571 BOR|BOREALIN|DasraB|FLJ10468|FLJ12042|MESRGP Dasra B|OTTHUMP00000004514|borealin|cell division cycle-associated protein 8|dasra-B|hDasra-B|pluripotent embryonic stem cell-related gene 3 protein protein-coding 1601855 CDCP1 CUB domain containing protein 1 The protein encoded by this gene is a transmembrane protein containing three extracellular CUB domains. This protein is found to be overexpressed in colon and lung cancers. Its expression level is correlated with the metastatic ability of carcinoma cells. This protein is located on the cell surface. It has been shown to be tyrosine phosphorylated in a cancer cell line. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 19077003,18483744,18483259,18467693,18269919,17785447,17335815,16926850,16404722,16007225,15851033,15489334,15153610,14739293,14702039,12975309,12799299,12660814,12477932,11466621,8647901,20372833,20501830,19318475,19671673,19916495,20551327 64866 NM_022842,NM_178181,AC104165,AC105902,CH471055,AF468010,AK023834,AK026187,AK026329,AK026622,AK314441,AY026461,AY167484,AY358779,AY375452,BC021099,BC069254 NP_073753,NP_835488,EAW64737,EAW64738,AAO33397,BAB14695,BAB15388,BAB15511,AAK02058,AAO34538,AAQ89139,AAR21289,AAH21099,AAH69254,Q9H5V8,AAI48606,AAI53170 Hs.476093 CD318|SIMA135|TRASK CUB domain-containing protein 1|membrane glycoprotein gp140|subtractive immunization M plus HEp3-associated 135 kDa protein|transmembrane and associated with src kinases protein-coding 1603885 CDCP2 CUB domain containing protein 2 17388942,12477932 200008 NM_201546,AL357673,CH471059,CQ725837 NP_963840,CAH73896,EAX06701,Q5VXM1,AAI41441 Hs.568555 CUB domain-containing protein 2 protein-coding 1606256 CDGAP Cdc42 GTPase-activating protein This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq] 17158447,16519628,15761153,12477932,11744688,10574462,8889548,9786927,12819203,19706030,20190752,20936779 57514 NM_020754,NG_007665,AC092981,CH471052,AB033030,AK026689,AK293726,BC112163,BC112165,BM970175 NP_065805,EAW79573,EAW79574,BAA86518,BAH11580,AAI12164,AAI12166,Q2M1Z3,ADR83297 Hs.668218 CDGAP|KIAA1204|MGC138368|MGC138370 Cdc42 GTPase-activating protein|rho GTPase-activating protein 31 protein-coding 737413 CDH1 cadherin 1, type 1, E-cadherin (epithelial) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq] 2289479,2289488,2289491,2289492,2289494,2289497,2289447,2289450,2289487,2289489,2289490,2289493,2289498,2289638,2289457,2296046,2296045,2289683,1599556,1599548,1599549,1580863 20049841,20596253,20651370,20651373,16338932,8033105,18029348,18593713,11076937,19634113,18662704,18655368,18646324,18632221,18624796,18618693,18593909,18584348,18579802,18563342,18559505,18553167,18551395,18550473,18544073,18528437,18516325,18503162,18502615,18491227,18483246,18482459,18469796,18468719,18459457,18440840,18434311,18427545,18418437,18411277,18397460,18393242,18391748,18385519,18384629,18381934,18379416,18377425,18359784,18349282,18342884,18342503,18339843,18330719,18330089,18327819,18325333,18321996,18319303,18316097,18312357,18295959,18276111,18256147,18245470,18242180,18235976,18234642,18223680,18223216,18200054,18197935,18196581,18192886,18187454,18183411,18174259,18158575,18097581,18095267,18084253,18065418,18057010,18046629,18036402,18035404,18008331,18006853,17991426,17982235,17981184,17979184,17979146,17971340,17960794,17960397,17959171,17940061,17906929,17906660,17905526,17873891,17852867,17850815,17845801,17828401,17804733,17786966,17785436,17764657,17761538,17760721,17719574,17715295,17708604,17703412,17689924,17689538,17685455,17671701,17668349,17663505,17660459,17660246,17656222,17652530,17649807,17647062,17646933,17645803,17627624,17627168,17623668,17620337,17617594,17611682,17608733,17605082,17593336,17576040,17553930,17549573,17548604,17548247,17545690,17520682,17509026,17507638,17504810,17502486,17437014,17434710,17431390,17429067,17396032,17392517,17383595,17383052,17341890,17339363,17325197,17294073,17274640,17272646,17261850,17242406,17237808,17224907,17221870,17214852,17203182,17202846,17201188,17146437,17138130,17130831,17126523,17062664,17060906,17060462,17050668,17043655,17031402,17016656,17015477,17013088,16949915,16948518,16934975,16932944,16930554,16930538,16929514,16924464,16922727,16909210,16907861,16870389,16865770,16830381,16826427,16819153,16813949,16804902,16801346,16799706,16786001,16761612,16760429,11080149,11058098,11035789,10969083,10963665,10959047,10950951,10931041,10896919,10837471,10790430,10713718,10698519,10671552,10652321,10635315,10629228,10608854,10597309,10523846,10500174,10477433,10462524,10409703,10319582,10225956,10202138,10072428,9971746,14706341,20410224,19965908,20219600,20395298,20418909,20690797,20712010,20520968,20844743,20880515,20921021,20922573,21071539,19572217,19763914,20568901,20631633,20631637,20655775,20811707,20840677,20946117,16319895,16336960,16479161,16751808,19998427,20546336,20546345,20574529,20808826,20518789,19593637,20375073,20382636,20453886,20471195,20534996,20581839,19653274,20529814,20529828,20530476,20573371,20632448,20634891,20638935,20648012,20659471,20672350,20551954,19604491,18674869,18062917,16714334,12786894,11104024,9925936,15388328,15294866,19569232,19563064,19551141,19536615,19515043,19506726,19432901,19420730,19417140,19411307,19398441,19395181,19389926,19383788,19379710,19375306,19372377,19351817,19350629,19339270,19336864,19321195,19308044,19302290,19293150,19290490,19273195,19269290,19258923,19244247,19223545,19215686,19193763,19177462,19176757,19168852,19162367,19158195,19157508,19153669,19152244,19151754,19148529,19137776,19122650,19121849,19118778,19110428,19085831,19082443,19077564,19056535,19048123,19019843,19011631,18983973,18980977,18976910,18974268,18937087,18931551,18842495,18837082,18829543,18829448,18813944,18806748,18801366,18801083,18794357,18781193,18773488,18772194,18768510,18758239,18754040,18711702,18705344,18703780,18697202,18691570,18683894,18677652,18676680,14742711,14734465,14729585,14699157,14695147,14681060,14675278,14661064,14637149,14610318,14599963,14595118,14585958,14567991,14559984,14559901,14532995,14511406,14507651,14501773,14158754,12949051,12937339,12923325,12908778,12903050,12890751,12875984,12857907,12851691,12824891,12810698,12808048,12800196,12797865,16702959,16699861,16685438,16682529,16614715,16608875,16596173,16574648,16502042,16495925,16474379,16447040,16426911,16417575,16390868,16373333,16372334,16368435,16367920,16344308,16333245,16327305,16301117,16276119,16247464,16237750,16226258,16226102,16219695,16215948,16199889,16189707,16172196,16152579,16142450,16142373,16138013,16132582,16127748,16126725,16123095,16061854,16061479,16007161,16002701,15958533,15943036,15937692,15930343,15928314,15890089,15857834,15831593,15824172,15809746,15780560,15777972,15750927,15741307,15718252,15713751,15709186,15696778,15696125,15695390,15693887,15689490,15689411,15671768,15660698,15647282,15638379,15609397,15609326,15609307,15588985,15561585,15561102,15542832,15509650,15500294,15467754,15457549,15389640,15330449,15328195,15328184,15311212,15308209,15289833,15285029,15274329,15259055,15254707,15254236,15251938,15235021,15231691,15194432,15178462,15161659,15153430,15144564,15140023,15102690,15102685,15084762,15075377,15075229,15033487,15024035,14998854,14991757,14981918,14977637,14961571,14767510,14760942,14750169,14750164,12511569,12481018,12477932,12452045,12444556,12427869,12414996,12409468,12398810,12397640,12393869,12391156,12370292,12219004,12216071,12209998,12209606,12203775,12203370,12198663,12189238,12169098,12161443,12140137,12138162,12134161,12127160,12115723,12095414,12082610,12061792,12057916,12049819,12037667,12036913,12027444,12021924,11996968,11968083,11953314,11948460,11937138,11920500,11916976,11912130,11896626,11882288,11870667,11861761,11857408,11856755,11846558,11839665,11836526,11821434,11813884,11801604,11790800,11747475,11733362,11705864,11683173,11562785,11443625,11419427,11401320,11274246,11226248,11179419,11158177,11136230,12767511,12759241,12740491,12725331,12712492,12694354,12672818,12668723,12665652,12657640,12655059,12647217,12639940,12629411,12606944,12588804,12587534,12579297,12560341,12532469,12532436,12532420,12532418,12531901,12526809,12517779,9751616,9744472,9721589,9632747,9615235,9537325,9531566,9512503,9214391,9130654,9045944,8985087,8797891,8557030,8549695,8459805,8207061,8185635,8127895,8093045,8075649,7961105,7890674,7824937,7651399,7642713,7601454,7559781,7543680,3263290,2349235,2224804,1639850,1606546,18593907,15023525,12830000,12640114,12634428,11960376,11712088,11348595,11254878,11245482,11113628,10772923,10381631,9819408,9535896,9405455,9233779,8227214,7954478,7876318,7542250,8074697,12707304,10910767,12615965,12956947,11459826,10744074,12434297,15542433,15674322,19781162,19950699,20871222,10460003,10868478,12839684,16732935,16980628,17057644,17220478,17626746,17659469,17672949,17927866,17991318,17991319,18024302,18246798,18250063,18279620,18685493,18712716,19038973,19048396,19050681,19070520,19170196,19175984,19184677,19247957,19276972,19324354,19396152,19403558,19440036,19446405,19457864,19458087,19465902,19474748,19477924,19497979,19515834,19549906,19584084,19584296,19603142,19604117,19614771,19616845,19620634,19625176,19641024,19646884,19650189,19656157,19661031,19661089,19665015,19671196,19690767,19690775,19692168,19703993,19706751,19711372,19726720,19741544,19745069,19748854,19751508,19784072,19790246,19799609,19802010,19802011,19822757,19823035,19834798,19839049,19842844,19901964,19908067,19908344,19915524,19915572,19919954,19940363,19948721,19957299,20007324,20010527,20025748,20026874,20033368,20044998,20048343,20053763,20080744,20082478,20086044,20086175,20091050,20092957,20101232,20112504,20112731,20113833,20116244,20118984,20173740,20204300,20332115,20335450,20356845,20357201,20376482,20412959,20424596,20432435,20437058,20453000,20462505,20501757,20503287,7806582,9219219,18710612,20513387,20605145,20686030,20734115,20874004,20890948,20214550,20668551,20066101,20131016,20582552,20729194,20474081 2289479,2289488,2289491,2289492,2289494,2289497,2289447,2289450,2289487,2289489,2289490,2289493,2289498,2289638,2289457,2296046,2296045,2289683,1599556,1599548,1599549 999 NM_004360,NG_008021,AC099314,CH471092,D49685,DQ090940,L34545,L34789,S72492,Z35402,AB025105,AB025106,AI890107,AK290012,AK297913,AK309703,AK311198,AK312551,BC013851,BC141838,BC144283,BC146662,EU709494,L08599,X12790,X52279,Z13009,Z18923 NP_004351,EAW83242,EAW83243,EAW83244,EAW83245,BAA08537,AAY68225,AAA21764,AAD14108,CAA84586,BAA88956,BAA88957,BAF82701,BAG60232,BAG35448,AAI41839,AAI46663,ACD87624,AAA61259,CAA31279,CAA36522,CAA78353,CAA79356,P12830,Q9UII7,Q9UII8 Hs.461086 Arc-1|CD324|CDHE|ECAD|LCAM|UVO CAM 120/80|E-Cadherin|cadherin 1|cadherin 1, E-cadherin (epithelial)|cadherin-1|calcium-dependent adhesion protein, epithelial|cell-CAM 120/80|epithelial cadherin|uvomorulin protein-coding 1350088 CDH10 cadherin 10, type 2 (T2-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. [provided by RefSeq] 1580863 19404256,12389209,10861224,10386616,2059658,16169070,12477932,16344560,19456320,20379614,7806582,8889549,9219219 1008 NM_006727,AC010387,AC091885,CH471118,AB035303,BC144168,CR615281,AA209467,BM126883,DA229466,NM_001190450 NP_006718,EAX10742,BAA87417,Q9Y6N8,AAI52829,AAI56819,NP_001177379 Hs.92489 OTTHUMP00000220799|T2-cadherin|cadherin-10 protein-coding 1351773 CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq] 1580863 17474147,8163513,19339270,19133007,18821672,18708358,18575746,18359978,18193170,17292535,16651616,15743489,15509545,15383628,14985702,14625392,12477932,11775026,10760957,10550312,10398117,10320525,10029089,9615235,9520111,7982033,2059658,19274078,19996288,20379614,7806582,9219219 1009 NM_001797,AC010533,AC137643,AF060369,AF060370,CH471092,AB209760,AK291251,AK294872,AK297377,AK308000,BC013609,D21254,D21255,L34056 NP_001788,AAD27755,AAD27756,EAW83000,EAW83001,EAW83002,BAD92997,BAF83940,BAH11907,BAG59819,AAH13609,BAA04798,BAA04799,AAA35622,P55287,Q59EQ1,Q96CZ9 Hs.116471 CAD11|CDHOB|OB|OSF-4 OB-cadherin|cadherin-11|osteoblast cadherin protein-coding 1343875 CDH12 cadherin 12, type 2 (N-cadherin 2) This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq] 1580863 19473719,19557197,19567891,20379614,20453000,7806582,9219219,14702039,12477932,10861224,10191097,9615235,9122206,7982033,7731968,7545953,2059658,1436057 1010 AK295123,NM_004061,AC022139,AC026716,AC034239,AC091938,AC093263,AC108089,AC109455,AC138854,AC138940,AC139497,AC140132,AC140171,CH471118,Z16831,AK092176,AK314800,BC047608,L33477,L34057 BAH11982,NP_004052,EAX10734,EAX10735,EAX10736,BAG52492,BAG37328,AAH47608,AAB48539,AAA35623,P55289,ACE87453,ACE86767 Hs.113684 CDHB|FLJ34857 Br-cadherin|N-cadherin 2|OTTHUMP00000115709|OTTHUMP00000220833|brain cadherin|brain-cadherin|cadherin, neural type, 2|cadherin-12|neural type cadherin 2|neuronal cadherin 2 2292817 MAMTS101_H protein-coding 1344160 CDH12P cadherin 12 (N-cadherin 2) pseudogene 10369862,7731968 1011 NG_007326,AC004999,AC139277,AC146335 C41-CAD|CDH12P pseudo 3436175 CDH12P1 cadherin 12 (N-cadherin 2) pseudogene 1 7731968 100093625 AC139834,NG_007328 pseudo 3436176 CDH12P3 cadherin 12 (N-cadherin 2) pseudogene 3 7731968 100093624 AC140134,NG_007327 pseudo 3436174 CDH12P4 cadherin 12 (N-cadherin 2) pseudogene 4 7731968 100093626 AC145138,NG_007329 pseudo 734374 CDH13 cadherin 13, H-cadherin (heart) This gene is a member of the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region but, unlike the typical cadherin superfamily member, lacks the highly conserved cytoplasmic region. This particular cadherin is a putative mediator of cell-cell interaction in the heart and may act as a negative regulator of neural cell growth. The gene locus is hypermethylated or deleted in breast, ovarian and lung cancers. Two major mRNA transcripts encoding identical proteins are found, products of alternative polyadenylation sites. [provided by RefSeq] 734735,2293014,2298985,2293540,2293542,2293546,2298986,2298987,2293544,2293539,2293543,2293545,2293553,2293555,1580863,734736 17554300,18029348,18656243,18839057,18957941,19463088,19581569,19638398,19726744,19799609,19955471,20039275,20039365,20090771,20121546,20125193,20161066,20189936,20201926,20379614,20446882,7806582,9219219,18349282,10601632,16013438,15703273,14729458,15816843,17573778,10737605,15364621,16099944,16873731,9650591,19368692,19336575,19304780,19199263,19165155,19116147,18821565,18729198,18627351,18553387,18550521,18519826,18519763,18425332,18411300,7982033,8673923,2059658,18337602,18264096,17967182,17960794,17903302,17873891,17765896,17094449,17077306,16602701,16344560,16335952,16273386,16222700,16133358,15821437,15489334,15292927,15251938,15210937,15146197,14997203,14750164,14718574,14579115,12697869,12489108,12477932,12177241,12067979,12060406,11642747,11326751,11027617,9852687,9737784,9615235,9468307,20732627,20195266,20694014,20800221,20887962,20876611,21071540 734735,2293014,2298985,2293540,2293542,2293546,2298986,2298987,2293544,2293539,2293543,2293545,2293553,2293555,734736 1012 NM_001257,AB001103,AC009028,AC009063,AC009119,AC009142,AC087189,AC092340,AC092351,AC098804,AC099506,AC106814,AC125793,CH471114,AI802411,AK294277,AK295886,AK298612,AK304592,AK304733,AK307862,AU123178,BC012615,BC028624,BC030653,CK725094,CN263227,EU190357,EU190358,L34058,U59288 NP_001248,BAA32411,EAW95515,BAH11722,BAH12213,BAH12826,BAH14221,BAH14247,AAH28624,AAH30653,ABW97440,ABW97441,AAA35624,AAB18911,P55290,ABM82639,ABM85816 Hs.654386 CDHH H-cadherin|P105|T-cad|T-cadherin|cadherin 13|cadherin-13|heart cadherin|heart-cadherin|truncated cadherin|truncated-cadherin protein-coding 1353127 CDH15 cadherin 15, type 1, M-cadherin (myotubule) This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq] 1580863 9545347,19012874,15489334,12634428,12477932,12052883,11136230,11058098,10861224,9615235,9168809,9030594,8059975,1840697,1427864,19851296,20198315,7806582,9219219,15923648 1013 NM_004933,NG_012055,AC009113,CH471184,AK308631,AW452260,BC008951,D83542 NP_004924,EAW66741,EAW66742,AAH08951,BAA12012,P55291,ABM84203,ABM87607 Hs.148090 CDH14|CDH3|CDHM|MCAD|MRD3 cadherin-14|cadherin-15|cadherin-3|muscle cadherin|muscle-cadherin protein-coding 1323200 CDH16 cadherin 16, KSP-cadherin This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. [provided by RefSeq] 1580863 9721215,18343407,17895753,15886705,15670782,15489334,15023525,12975309,12851251,12477932,10828602,10409308,9373149,8125298,7615566 1014 NM_004062,AC009084,CH471092,AF016272,AI733140,AK075243,AK225544,AK225552,AK298255,AK298334,AK313101,AY358911,BC027912,BI759247 NP_004053,EAW83050,EAW83051,EAW83052,AAC34255,BAG60520,BAG60583,BAG35925,AAQ89270,AAH27912,O75309,ABM84733,ABW03631 Hs.513660 KSP-cadherin|cadherin-16|kidney-specific cadherin protein-coding 733806 CDH17 cadherin 17, LI cadherin (liver-intestine) This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 8153632,18552820,18353622,18342884,17828401,16951245,16344560,15701831,15302935,15279905,15178443,12824888,12477932,11413113,11337467,11193569,10191097,9615235,603017,15023525,20398667,20204409,19676131,19736353,19956853,20500517 1015 NM_004063,NM_001144663,AP003351,AP003478,CH471060,CS223371,AI566493,AK130441,AK300638,AK301001,AK312873,AU098586,BC112013,BC113464,BF591263,BX483700,DB009107,U07969,X83228 NP_004054,NP_001138135,EAW91708,CAJ46925,BAG62327,BAG62620,BAG35725,AAI12014,AAI13465,AAA19021,CAA58231,Q12864,ADR83433 Hs.591853 CDH16|FLJ26931|HPT-1|HPT1|MGC138218|MGC142024 HPT-1 cadherin|LI cadherin|LI-cadherin|cadherin 17|cadherin-16|cadherin-17|human intestinal peptide-associated transporter HPT-1|human peptide transporter 1|intestinal peptide-associated transporter HPT-1|liver-intestine cadherin protein-coding 1313454 CDH18 cadherin 18, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq] 1580863 16344560,20180417,20379614,7806582,9219219,12477932,10861224,10207020,10191097,9030594,20800221 1016 CA425592,DA368944,NM_001167667,NM_004934,AC025173,AC093221,AC108128,AC113397,AC118463,CH471168,AK289547,AK295087,AK308745,BC031051,BI549773,U59325 NP_001161139,AAB02933,Q13634,ABM84477,ABM84862,NP_004925,EAW68851,BAF82236,BAG58128,AAH31051 Hs.317632 CDH14|CDH14L|CDH24|EY-CADHERIN OTTHUMP00000115690|OTTHUMP00000220998|OTTHUMP00000220999|OTTHUMP00000221000|OTTHUMP00000221001|OTTHUMP00000221002|cadherin-14|cadherin-18|cadherin-like 24|ey-cadherin protein-coding 1316200 CDH19 cadherin 19, type 2 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq] 1580863 12975309,12477932,10995570,10861224,9615235,7566098 28513 NM_021153,AC090393,AC091643,CH471096,AA331759,AF047826,AJ007607,AK304000,AK315257,AY358654,BC015877 NP_066976,EAW63178,AAC05117,CAC13126,BAG64917,AAQ89017,AAH15877,O60574,Q96KY9,Q9H159 Hs.42771 CDH7|CDH7L2 cadherin-19 protein-coding 731820 CDH2 cadherin 2, type 1, N-cadherin (neuronal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. The protein functions during gastrulation and is required for establishment of left-right asymmetry. At certain central nervous system synapses, presynaptic to postsynaptic adhesion is mediated at least in part by this gene product. [provided by RefSeq] 1582675,734737,1580863 15355896,12438242,2384753,19530221,19339270,19222093,19190132,19124205,19101069,19043453,19033391,18979298,18978678,18801083,18622386,18495274,18414176,18362184,18269586,17944884,17868645,17668445,17646933,17512904,17389597,17348027,17255093,17229887,17178870,17171299,17060906,17031402,17008425,16969099,16819153,16707106,16675571,16596172,16371504,16344560,16258702,16212419,16173043,16149052,16091424,16007225,15987741,15855653,15774907,15731052,15713751,15701645,15648948,15541732,15527101,20630685,20811707,20139113,20735983,15331629,15263022,15252840,15217949,15192701,15153430,15146197,14675278,14625392,14559901,14515347,13678586,12634428,12604612,12545205,12531901,12503652,12477932,12398894,12377785,12151522,12095980,12057916,11996105,11821434,11790800,11729199,11329013,11136230,11058098,10862698,10818391,10662782,9971746,9615235,9542583,9508779,9199196,9168198,7995652,7959764,7731968,2216790,1639850,1500442,7650039,12639940,12615965,20664068,20233707,20634891,11106648,16344550,17057644,19070520,19167335,19324354,19448425,19501458,19580633,19584275,19898423,19919954,20082286,20116358,20117462,20204300,20308060,20379614,7806582,8074697,9219219,21057494,15923648,20605145,21123580 1582675,734737 1000 NM_001792,NG_011959,AC006249,AC015933,AC110015,CH471088,Z27420,AA661623,AI675151,AI752179,AI752180,AK302831,AW016710,BC021695,BC036470,BG197310,BX648579,CN263272,DA225616,M34064,S42303,X54315,X57548,EF444966 NP_001783,EAX01239,EAX01240,EAX01241,CAA81799,BAH13814,AAH36470,AAA03236,AAB22854,CAA38213,CAA40773,P19022,ACE87575,ACE86888,ACA05964 Hs.464829,Hs.606106 CD325|CDHN|CDw325|NCAD N-cadherin 1|cadherin 2|cadherin 2, N-cadherin (neuronal)|cadherin-2|calcium-dependent adhesion protein, neuronal|neural cadherin|neural-cadherin protein-coding 1313468 CDH20 cadherin 20, type 2 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq] 14702039,12477932,10995570,19690890,20379614 28316 NM_031891,AC006203,AC090409,CH471096,AF217289,AK094366,AK290190,AK313809,BC101047,BC101048,BC101049 NP_114097,EAW63108,AAG23739,BAC04340,BAF82879,BAG36545,AAI01048,AAI01049,AAI01050,Q8N9J3,Q9HBT6 Hs.671510 CDH7L3|Cdh7|FLJ37047 cadherin-20 protein-coding 732591 CDH22 cadherin-like 22 This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq] 69804,1580863 20650312,18602983,12630923,9110174,8626716,8619474,12477932,11780052,19440036,19546606 69804 64405 NM_021248,AL031687,CH471077,AF035300,AK289584,BC031232,BC039056,BC136526 NP_067071,CAB51587,EAW75754,EAW75755,AAB88183,BAF82273,AAH31232,AAI36527,Q49AS4,Q9UJ99 Hs.472861 C20orf25|MGC39564|dJ998H6.1 PB-cadherin|cadherin 22|cadherin-22|cadherin-like 22|ortholog of rat PB-cadherin|pituitary and brain cadherin protein-coding 733851 CDH23 cadherin-like 23 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Two alternative splice variants have been identified that encode different isoforms. Additional variants have been observed but their full-length nature has not been determined. [provided by RefSeq] 737781,704405,1580863,704404 12485990,11138009,16679490,19297620,19268276,18484607,18429043,18368581,18348277,18323324,18273900,17850630,17672918,16598924,16550584,15882574,15829536,15660226,15537665,14702039,12975309,12588794,20801516,20498078,12522556,12477932,12407180,12075507,11857743,11597768,11386759,11347906,11138008,11090341,8894709,8889548,8817348,2706105,16344560,16385451,18957941,19683999,20379614,17234811 737781 64072 NM_052836,NG_008835,AC012469,AL359183,AL731541,AL772287,CH471083,AB053445,AB058715,AF312024,AK074160,AK093818,AL122081,AY010111,AY358617,AY563161,AY563162,AY563165,AY563166,BC011570,BC032581,BC065284,BC108254,BC136976,BC136977,BC139903,BM673126,BU728250,NM_022124,DB333699,NM_001171930,NM_001171931,NM_001171932,NM_001171933,NM_001171934,NM_001171935,NM_001171936 NP_071407,NP_443068,CAI13425,CAI13426,CAI40838,CAI40841,CAI13625,CAI13626,EAW54426,EAW54427,EAW54428,EAW54429,EAW54430,EAW54431,EAW54432,BAB61902,BAB47441,AAG48303,BAB84986,BAC04231,CAB59256,AAG27034,AAQ88980,AAT72161,AAT72162,AAT72165,AAT72166,AAH11570,AAH32581,AAH65284,AAI08255,AAI36977,AAI36978,AAI39904,Q32P55,Q5QGS1,Q5QGS2,Q5QGS6,Q5SQD0,Q5SQD1,Q6P152,Q8N1Z7,Q8N5B3,Q8TEG4,Q9H251,Q9UFG9,Q5QGS5,NP_001165401,NP_001165402,NP_001165403,NP_001165404,NP_001165405,NP_001165406,NP_001165407 Hs.656032 CDHR23|DFNB12|DKFZp434P2350|FLJ00233|FLJ36499|KIAA1774|KIAA1812|MGC102761|USH1D OTTHUMP00000020837|cadherin related 23|cadherin-23|cadherin-like 23|cadherin-related family member 23|otocadherin protein-coding 1353170 CDH24 cadherin-like 24 1580863 12477932,16169070,12734196,12975309,7806582,9219219 64403 NM_022478,AL132780,CH471078,AK025342,AK057922,AK289576,AK307746,AL137477,AY260900,AY260901,AY358199,BC009332,BC019067,BC069190,NM_144985,BC110867,BC142724,BX110381,BX248303,BX248750,CR617589,CR623889,DC310509,BC094810 NP_659422,NP_071923,EAW66189,EAW66190,EAW66191,EAW66192,BAB15116,BAB71613,BAF82265,CAB70758,AAP20590,AAP20591,AAQ88566,AAH94810,AAI10868,CAD62630,CAD66557,Q2TAL1,Q4VBZ5,Q86T00,Q86TS8,Q86UP0,Q96LQ7,Q9H6Y4,AAI72283,AAI72574 Hs.155912 CDH11L|FLJ25193|MGC131880 OTTHUMP00000164553|cadherin-24|cadherin-like 24 protein-coding 1323191 CDH26 cadherin-like 26 Cadherins are a family of adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization and migration. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This gene encodes a cadherin domain-containing protein whose specific function has not yet been determined. Alternative splicing occurs at this locus and two transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq] 14702039,12477932,11780052,10835267,16344560,19824886,20379614 60437 NM_177980,NM_021810,AL109928,CH471077,AA454986,AF169690,AK055202,AK074477,BC062570,BC136306,BC143931,CR624927,DB218314 NP_817089,NP_068582,CAB92092,CAD55556,CAD55557,EAW75417,EAW75418,EAW75419,EAW75420,EAW75421,EAW75422,EAW75423,AAF89687,BAG51485,BAB85093,AAH62570,AAI36307,Q8IXH8,Q9NTY2 Hs.54973 VR20 OTTHUMP00000031433|OTTHUMP00000174475|cadherin-like 26|cadherin-like protein 26|cadherin-like protein VR20 protein-coding 1605792 CDH29 cadherin-like 29 15489334,12975309,12477932,20307617 389118 NM_001007540,AC139451,AY358221,BC132756,BC146674 NP_001007541,AAQ88588,AAI32757,AAI46675,A6H8M9 Hs.363312 CDH29|MGC164982|PRO34300 Cadherin-like protein UNQ9392/PRO34300|VLLR9392|cadherin-like 29|cadherin-like protein 29|cadherin-related family member 4 protein-coding 1353368 CDH3 cadherin 3, type 1, P-cadherin (placental) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been associated with congential hypotrichosis with juvenile macular dystrophy. [provided by RefSeq] 1600806,1600801,1580863 20203473,10460003,19469909,19528483,19846933,19901964,19915572,20118984,20204300,7806582,9219219,19076794,19043399,18927288,18829530,18811693,18637128,18637117,18330089,18329483,18230143,18199584,18074863,17342797,16115928,16007225,15967043,15817166,15805154,15489334,15375751,15146197,12919105,12876286,12800191,12477932,12445216,12417987,12112590,12021924,11909859,11891861,11889072,11544476,11401672,11106563,11066045,10655458,10381631,9815605,9615235,9373149,9359492,9250159,8660921,8227214,8125298,8074995,8056851,7538474,7534041,2793940,2702654,1924379,1427864,10910767,15331416,20844743,20860798,20385540,20338046,19882246,20621328,20668551 1600806,1600801 1001 NM_001793,NG_009096,AC099314,AC126773,CH471092,CS174724,X95824,AI149268,AK225396,AK296968,AK312554,BC014462,BC041846,BQ945506,BU543746,CA489015,CA489338,CA489357,CN365479,X63629 NP_001784,EAW83237,EAW83238,EAW83239,CAJ34555,CAA65093,BAG59512,BAG35451,AAH14462,AAH41846,CAA45177,P22223,ACE87576,ACE86889 Hs.191842 CDHP|HJMD|PCAD cadherin-3|calcium-dependent adhesion protein, placental protein-coding 1343938 CDH4 cadherin 4, type 1, R-cadherin (retinal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. [provided by RefSeq] 1580863 2059658,17903297,16786001,15548679,15489334,15143071,14702039,12477932,11780052,10799302,10760957,10662782,10516427,10191097,7982033,798233,18029348,19724895,19851296,20198315,20379614,7806582,9219219,20932310 1002 NM_001794,AL079336,AL109911,AL160412,AL162457,AL365229,AL365401,AL391316,AL450463,BX640515,CH471077,AI422259,AK025855,AK091496,AK092092,AK124724,AK308345,AK315192,BC101651,BC112150,L34059,AL834206 NP_001785,CAI19181,CAH73749,CAI16510,CAC26840,EAW75408,EAW75409,EAW75410,BAB15259,BAC03677,BAG54080,BAG37632,AAI01652,AAI12151,AAA35627,P55283,Q8NB64,Q8ND09,Q9H6K0,CAD38893 Hs.473231,Hs.598638 CAD4|FLJ22202|FLJ40547|MGC126700|MGC138355|RCAD R-CAD|R-cadherin|cadherin 4, type 1, preproprotein|cadherin-4|retinal cadherin protein-coding 1316530 CDH5 cadherin 5, type 2 (vascular endothelium) This gene is a classical cadherin from the cadherin superfamily and is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classic cadherin by imparting to cells the ability to adhere in a homophilic manner, the protein may play an important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq] 1598391,1580863 19633358,19735546,19760520,19996314,20048167,20123970,20167365,20224040,7806582,12219009,1522121,16027153,15980433,15897346,15861137,15735710,15731052,15601837,15572031,15374707,15220112,14699141,14695457,14678493,12740216,12658549,12626512,12595527,12584244,12584200,12477932,12426320,12413882,12393634,12243749,16115630,12234928,12088286,9219219,19420236,19356953,19345098,19212436,19059243,18990449,18979298,18804209,18641366,18639387,18628953,18420943,18402976,18337748,18316602,18287330,18272754,18195090,18180305,18163230,17761936,17638851,17194459,17159998,17060906,17057644,16909109,16893970,16481735,16335952,16322481,12130501,12095140,12010652,12003790,11950930,11950700,11937138,11900554,11855855,11777950,11490021,10861224,10681592,10428027,10063232,9739078,9615235,9378757,7627717,2059658,9434630,15723073,19913121,20470859,20628086,20926024,20810734,20732872,19915944,20032304,20693433,20463083,20589320 1598391 1003 NM_001795,AC132186,CH471092,AB035304,AB209908,AK300299,AK300322,AK300461,BC096363,BC096364,BC096365,BC117520,CR595820,CR604654,DC381809,U84722,X59796,X79981 NP_001786,EAW83009,BAA87418,BAD93145,BAG62052,BAG62074,BAG62180,AAH96363,AAH96364,AAH96365,AAI17521,AAB41796,CAA42468,CAA56306,P33151,Q4VAI4,Q4VAI5,Q4VAI6,Q59EA3 Hs.76206 7B4|CD144|FLJ17376 7B4 antigen|VE-cadherin|cadherin 5, type 2, VE-cadherin (vascular epithelium)|cadherin-5|cd144 antigen|endothelial-specific cadherin|vascular endothelial cadherin protein-coding 735712 CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) This gene encodes a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. Strong transcriptional expression of this gene has been observed in hepatocellular and renal carcinoma cell lines, suggesting a possible role in metastasis and invasion. [provided by RefSeq] 1580863 7743525,18029348,16344560,16335952,15489334,12477932,10861224,10207020,10191097,9615235,9520111,9506208,9205085,2059658,20634887,20709820,7806582,9219219 1004 NM_004932,AC091898,AC113386,CH471118,AK291290,AU130185,BC000019,D31784 NP_004923,EAX10763,EAX10764,EAX10765,BAF83979,AAH00019,BAA06562,P55285 Hs.171054 KCAD K-cadherin|OTTHUMP00000220908|cadherin 6, K-cadherin (fetal kidney)|cadherin, fetal kidney|cadherin-6|kidney cadherin protein-coding 1315712 CDH7 cadherin 7, type 2 This gene is a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures. Alternative splicing in the 5' UTR of this gene yields variant transcripts encoding the same protein. [provided by RefSeq] 1580863 15273735,12477932,10995570,10861224,9615235,20379614,7806582,9219219 1005 NM_033646,NM_004361,AC023394,AC090358,CH471096,AB035301,AJ007611,BC036786 NP_387450,NP_004352,EAW63173,EAW63174,EAW63175,BAA87415,CAC13127,AAH36786,Q8IY78,Q9ULB5 Hs.657522 CDH7L1 OTTHUMP00000163685|cadherin-7 protein-coding 735375 CDH8 cadherin 8, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq] 1580863 20379614,7806582,9219219,2059658,15489334,14702039,12477932,12209956,10861224,9615235,9521872,7982033 1006 NM_001796,AC012174,AC040161,AC092124,AC092125,AC092129,CH471092,AB035305,AB074170,AK124734,BC113416,L34060,R34732 NP_001787,EAW82994,EAW82995,BAA87419,BAE45735,BAG54083,AAI13417,AAA35628,P55286,Q3LID3,ADR83258 Hs.368322 Nbla04261 cadherin 8|cadherin-8|putative protein product of Nbla04261 protein-coding 1354185 CDH9 cadherin 9, type 2 (T1-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq] 1580863 19404256,16344560,15489334,12477932,10861224,10835267,2059658,17668045,7806582,9219219,21079607 1007 NM_016279,AC010470,AC022450,CH471118,AB035302,AK294183,AK307779,AK308697,BC107594,BC109384,BC113745,DA165253 NP_057363,EAX10746,EAX10747,EAX10748,BAA87416,BAG57501,AAI07595,AAI09385,AAI13746,Q32LY1,Q9ULB4 Hs.272212 MGC125386 T1-cadherin|cadherin-9 protein-coding 736670 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. [provided by RefSeq] 9407135,16312203,15489334,14702039,12477932,9373149,9370331,8125298,8110188,19913121,20628086,20426864 10423 CR597859,CR604201,CR605664,CR608164,CR609816,CR611207,CR611467,CR613009,CR615041,CR616216,CR616565,CR618421,CR618769,CR622528,CR624862,CR626409,CR597610,NM_006319,AC120114,CH471238,AF014807,AK094468,AK097691,AK131227,AK131349,AK222676,AK290632,AK300805,AK310988,AK314544,AL050383,BC001444,BI490060,BT007301,CR542016,CR591018,CR592536,CR594410,CR595201,CR597373 O14735,Q53HA5,NP_006310,EAW79976,EAW79977,EAW79978,AAB94860,BAG52872,BAG53514,BAG54756,BAD18505,BAD96396,BAF83321,BAG62462,AAH01444,AAP35965,CAG46813 Hs.727544 MGC1328|PIS|PIS1 CDP-diacylglycerol--inositol 3-phosphatidyltransferase|PI synthase|PtdIns synthase|phosphatidylinositol synthase protein-coding 1312526 CDK10 cyclin-dependent kinase 10 The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18483556,19578364,19846932,8084611,18242510,8208557,17192257,16381901,16344560,15489336,15489334,12477932,11313931,11076863,11006117,10036189,8889548,7882308,7664269 8558 NM_052988,NM_052987,NM_001098533,NM_001160367,NR_027702,NR_027703,AC010538,AJ010341,CH471184,AB209829,AF153430,AK075036,AK131531,AK290485,AK292351,AK295397,CX867290,DB118903,DC362478,L33264,X78342,AK298386,BC017342,BC025301,BC032704,BC093028,BM677573,BM720563,BQ184950,CR595282,CR595651,CR599641,CR602954,CR612010,CR615113,CR617735,CR624710,AK296631 NP_443714,NP_443713,NP_001092003,CAB37619,EAW66700,EAW66701,EAW66702,EAW66703,EAW66704,EAW66705,EAW66706,EAW66707,EAW66708,EAW66709,EAW66710,EAW66711,BAD93066,AAF18371,BAG52055,BAG54773,BAF83174,BAF85040,BAH12055,NP_001153839,AAA60092,CAA55137,Q15131,Q59EI2,Q9UHL7,CAL37781,CAL38055,CAL38082,ACE87585,ACE86898,BAH12406,BAH12773,AAH17342,AAH25301 Hs.699177 PISSLRE CDC2-related protein kinase|OTTHUMP00000217847|cell division protein kinase 10|cyclin-dependent kinase (CDC2-like) 10|cyclin-dependent kinase related protein|serine/threonine protein kinase PISSLRE|serine/threonine-protein kinase PISSLRE protein-coding 1352010 CDK2 cyclin-dependent kinase 2 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein kinase is highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2. It is a catalytic subunit of the cyclin-dependent protein kinase complex, whose activity is restricted to the G1-S phase, and essential for cell cycle G1/S phase transition. This protein associates with and regulated by the regulatory subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A) and p27Kip1 (CDKN1B). Its activity is also regulated by its protein phosphorylation. Two alternatively spliced variants and multiple transcription initiation sites of this gene have been reported. [provided by RefSeq] 2298988,2296067,2293561,2298990,2293557,2289230,2293560,2293563,2298989,2293558,2289284,1580863 20399812,19225156,20098747,10767298,20935635,20844047,10548110,1653904,8692841,17353931,9933170,1312467,7799941,9840943,11907280,1396589,7629134,10323868,10339564,10454565,11231585,11340163,11931757,15226314,15707391,16109376,19321444,19258477,19201832,19197163,19124506,19103742,19101503,19091404,19066288,19061641,18941885,18806832,18784074,18667424,18635963,18617527,18507837,18470542,18408738,18400748,18372919,18345036,18281541,18276582,18236071,18208561,18202766,18199752,18198356,18174243,18156799,18042686,17713927,17638878,17495531,17409409,17386261,17371838,17361108,17293600,17207508,17192257,17095507,17038621,17013093,17001081,16912201,16912045,16824683,16765349,16762841,16707497,16582606,16575928,16540140,16519687,16517729,16504183,16458891,16407256,16381901,16376875,16343435,16262700,16258277,16174846,16150942,16085226,16082227,16082200,16036217,16027724,15964852,15944161,15922732,15890360,15707957,15695825,15671017,15665273,15660127,15649889,15635413,15632290,15619620,15611625,15611077,15607961,15601848,15572662,15489336,15489334,15456866,15355984,15309028,15302935,15241418,15232106,15226429,15199159,15178429,15159402,15144186,15063782,15030318,15024385,15024056,15004027,14993212,14985333,14701826,14694185,14646596,14645251,14615539,14612403,14597612,14562046,14551212,14550307,14536078,14506259,12972555,12954644,12947099,12915577,12912980,12857729,12853968,12839982,12839962,12810668,12801928,12800980,12745075,12732645,12729791,12676926,12676582,12560341,12531694,12477932,12388094,12361598,12239611,12185076,12149264,12140288,12114499,12096339,12081504,12064478,12049628,12036888,11980914,11953320,11884610,11781834,11781350,11698641,11684017,11532001,11463386,11395479,11310559,11278991,11259605,11238922,11175348,11113184,11102515,11076863,11042687,10995386,10938106,10938080,10934208,10930425,10924145,10908655,10884347,10878006,10846177,10827081,10748174,10747897,10639311,10602502,10593981,10559988,10432313,10386600,10373534,10373465,10348343,10207050,10202152,10095772,10082561,9889196,9885575,9858585,9840932,9710583,9677190,9632813,9545286,9525916,9472014,9464540,9372912,9334743,9315635,9311822,9223324,9199321,9192873,9188854,9178893,9150368,9139732,9041194,9029153,9019396,8917641,8806683,8756624,8756328,8684460,8647814,8626527,8617791,8610110,8601310,8510751,8275715,8259214,8242751,8242750,8230483,8101826,8033213,7969176,7743995,7716549,7630397,7569954,1717994,1714386,1388288,17083724,16289656,15050687,11264176,8565853,15355997,10559858,9858587,9891079,10748114,8127873,12417722,7644510,15004009,12529437,11069302,9566895,9731206,10877824,8764100,11302688,7780738,14530271,15469821,8475101,15652749,9632134,9546435,8662825,8463339,9467962,9244350,20444741,19960406,20079829,20422243,10330164,10574912,12791985,15800615,15800651,16326706,16479163,16777603,16826239,17254966,17274640,17409098,19440053,19594747,19596857,19609547,19631451,19703905,19706521,19723060,19724860,19738611,19797611,19822658,19829063,19838212,19838216,19854217,19858290,19885547,19966300,20017906,20062077,20068231,20102411,20147522,20195506,20508983,9054499,20512928,20694007,20711190,16822311,20465575,21099355,21048031 2298988,2296067,2293561,2298990,2293557,2289230,2293560,2293563,2298989,2293558,2289284 1017 NM_001798,NM_052827,AC025162,AC034102,AF512553,CH471054,U50730,AA810989,AB012305,AK291941,AK293246,BC003065,BJ991087,BT006821,CR603533,CR610978,M68520,X61622,X62071 NP_001789,NP_439892,AAM34794,EAW96856,EAW96857,EAW96858,EAW96859,EAW96860,BAA32794,BAF84630,BAG56780,AAH03065,AAP35467,AAA35667,CAA43807,CAA43985,O75100,P24941,CAL38014,ABM92215,ABM84693 Hs.19192,Hs.689624 p33(CDK2) cdc2-related protein kinase|cell devision kinase 2|cell division protein kinase 2|p33 protein kinase protein-coding 1318567 CDK2AP1 CDK2-associated protein 1 The protein encoded by this gene is a specific CDK2-associated protein, which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggested the regulatory role in DNA replication during S phase of the cell cycle. A similar gene in hamster was isolated from, and functions as a growth suppressor of normal keratinocytes. 1580863 20555355,20523938,9506968,17353931,17689689,17217620,15840587,15489334,14985111,14744761,13679870,12477932,10938106,10877824,9331572,19279387,19513502,19585490,19679565 8099 NM_004642,AC068768,CH471054,AB006077,AF006484,AI139790,BC034717,CR598800,CR604217,CR616383 NP_004633,EAW98398,EAW98399,EAW98400,BAA22937,AAC77831,AAH34717,O14519,ABM82207,ABM85394 Hs.725139 DOC1|DORC1|ST19|doc-1|p12DOC-1 CDK2-associated protein 1|Deleted in oral cancer-1|cyclin-dependent kinase 2-associated protein 1|deleted in oral cancer 1|putative oral cancer suppressor protein-coding 1604051 CDK2AP2 CDK2-associated protein 2 15489334,14985111,14702039,12477932,10082655,16169070 10263 BC002850,BC016704,BT006909,CR457050,CR542042,CR595755,CR596232,CR599781,CR605710,CR607070,CR626810,NM_005851,AP001184,CH471076,AF089814,AK001498,AK310197 AAH02850,AAH16704,AAP35555,CAG33331,CAG46839,O75956,Q6IAV4,NP_005842,EAW74644,AAC61745,BAG50926 Hs.523835 DOC-1R|FLJ10636|p14 CDK2-associated protein 2|DOC-1-related protein|cyclin-dependent kinase 2-associated protein 2|tumor suppressor deleted in oral cancer related 1|tumor suppressor deleted in oral cancer-related 1 protein-coding 3563635 CDK2AP2P1 cyclin-dependent kinase 2 associated protein 2 pseudogene 1 100289027 AL845472,NG_021654 pseudo 3004749 CDK2AP2P3 cyclin-dependent kinase 2 associated protein 2 pseudogene 3 401525 AL772155,NG_006137 pseudo 1353695 CDK3 cyclin-dependent kinase 3 This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq] 727582,1580863 18794154,9840943,21067790,1639063,18029348,17192257,17081983,16964243,16344560,15951569,15084261,14702039,12477932,12097586,11955625,11733001,9811456,9150368,8846921,8626584,8626531,8242750,7882308 727582 1018 NM_001258,AC040980,AY789470,CH471099,AU146328,BC128406,BU784937,BX098771,DB455174,X66357 NP_001249,AAV40830,EAW89353,EAW89354,EAW89355,CAA47001,Q00526,AAI60074 Hs.706766 OTTHUMP00000206828|cell division protein kinase 3 protein-coding 732061 CDK4 cyclin-dependent kinase 4 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq] 625485,2314609,2314610,2314611,2293577,2289663,2293574,2289144,2299055,2289135,2299054,2289284,2289153,2293583,2296041,2299057,2293560,2293576,2293580,2299056,2293579,2293581,2314613,2293582,1580863,704404,1358139,704385 16758952,11900540,17540176,18291362,18624751,19075005,19170196,19197163,19320462,19430707,19447967,19487459,19625176,19626636,19634152,19692168,19695727,19737942,19738611,19861461,19890848,19917880,19935879,20100483,20102411,20179208,20354191,20453000,8078588,8114739,8741839,9529249,15695403,18769160,20819778,20842456,21048031,21085193,8756624,19225156,20951943,20534551,19960406,20196171,12036888,12006580,11982759,11971966,11884610,11828258,11779854,11684017,11668523,11426564,11358847,11310559,11254741,11254678,11157749,11120786,10908655,10788489,10748174,10713676,10639311,10602502,10601020,10580009,10499802,10353443,10342870,10022835,9837900,9425228,9396813,9380698,9315635,9311594,9244350,9228064,9192850,9163429,9150368,9139732,9111314,9110174,9003781,8703009,8666233,8626527,8619474,8528263,8449399,8275715,8259215,8221695,8139570,8001816,7739548,7739547,7652577,7606365,7568034,7478582,2948189,15050687,8101826,8805225,11360184,14641107,9482104,8999999,10491434,12857727,8662825,11556834,11291051,12082615,12077343,9106657,11896535,15232106,15558030,16169070,16326706,17274640,17353931,17517622,7603984,17420273,9190208,16782892,16109376,19327170,19320745,19258477,19238106,19237565,19237555,19143767,19141386,19124506,19040567,19011513,18949380,18827403,18823025,18803811,18799615,18776921,18710949,18703151,18676680,18636124,18632627,18628440,18507837,18484097,18413728,18361427,18281541,18202766,18174243,18023021,18006822,17909018,17895748,17892862,17664862,17556661,17530187,17505264,17409409,17304504,17139501,17072968,17047042,17043357,16949366,16913845,16690963,16601140,16582606,16476733,16413469,16189514,15880589,15860862,15821902,15797629,15761153,15505422,15489334,15480536,15241418,15208653,15169919,15065884,15024701,15004027,14754892,14701845,14694185,14672406,14647432,14646596,12731669,12680219,12601350,12565795,12545164,12531694,12529334,12477932,12357246,12130539,18839518,19913121,20581865,20628086,16449650,20601938,20939487 625485,2314609,2314610,2314611,2293577,2289663,2293574,2289144,2299055,2289135,2299054,2289284,2289153,2293583,2296041,2299057,2293560,2293576,2293580,2299056,2293579,2293581,2314613,2293582,704385 1019 NM_000075,NG_007484,AC025165,AF507942,CH471054,S67448,U37022,U81031,AK297901,AK310724,AK313701,BC003644,BC005864,BC010153,BC015669,CR407668,CR542247,CR590586,CR591116,CR594194,CR597992,CR598582,CR602761,CR602927,CR608247,CR609991,CR616342,CR622282,M14505,U79269,Z48970 NP_000066,AAM23014,EAW97058,EAW97059,EAW97060,EAW97061,EAW97062,AAD13991,AAC50506,AAC39521,BAG60221,BAG36447,AAH03644,AAH05864,AAH10153,AAH15669,CAG28596,CAG47043,AAA35673,AAB50213,CAA88834,P11802,Q6LC83,Q96BE9,ABM84063,ABM87419 Hs.95577 CMM3|MGC14458|PSK-J3 cell division kinase 4|cell division protein kinase 4|melanoma cutaneous malignant, 3 protein-coding 1349434 CDK4PS cyclin-dependent kinase 4 pseudogene 359941 NG_006109,AL590631 pseudo 70825 CDK5 cyclin-dependent kinase 5 727582,734739,734741,734740,1580863 17611284,17581253,17493033,17491008,17145757,17121855,17060323,17045592,17036052,16519508,16413130,16407256,15917097,15911879,15890360,15790807,15741232,15492003,15489334,15345747,15342556,15178331,15123618,15030318,15013773,14741103,14704270,14521924,12972605,12963086,12855954,12832492,12826674,12824184,12796778,12769842,12765608,12691662,12690205,12491158,12477932,12435421,12387894,12372407,12372285,12226093,12223541,12154070,12084709,12077184,12071639,12064478,12056836,11955625,11882646,11865137,11823425,11784720,11743029,11741927,11733001,11684694,11675505,11604394,11583627,11483158,11311121,11278541,11254741,11181841,11168528,11113134,11104762,10995546,10936190,10896159,10884347,10762698,10721722,10683146,10604473,10544291,10500146,9832145,9771888,9735171,9614189,9596352,9565682,9546672,9478941,9422379,9396813,9353289,9199504,9150368,9013862,8891282,8764598,8702879,8275715,8090222,7949095,7834371,7566346,1639063,1330687,1181841,11389014,9244350,10915792,11163260,12832520,9038181,20720012,16712791,20213743,20491486,8090221,19615060,19514268,19514267,19514266,19343042,19050041,19001851,18676680,18598350,18490454,18487454,18480410,18460467,18408012,18350355,18326489,17713927,19913121,19960242,20516069,20628086,20651683,20345761,20013135,11320080,15652488,16862120,17078951,17290217,17327227,17591690,19170196,19625176,19692168,19718565,19764350,19822667,20133653,20379614,20453000,20357208,21044075,21145489,19693690,16356933,20673369 727582,734739,734741,734740 1020 NM_004935,NM_001164410,AACC02000108,AC010973,CH471173,AK026533,AY049778,AY927560,BC005115,BP309068,BT006680,BU527089,CA429180,CB114175,CR457041,DB487008,DQ411039,L04658,X66364 NP_004926,NP_001157882,EAL24498,EAW54049,EAW54050,EAW54051,AAL15435,AAH05115,AAP35326,CAG33322,ABD66016,CAA47007,Q00535,Q6IAW3 Hs.647078 PSSALRE OTTHUMP00000212917|TPKII catalytic subunit|cell division protein kinase 5|protein kinase CDK5 splicing|serine/threonine-protein kinase PSSALRE|tau protein kinase II catalytic subunit protein-coding 1347592 CDK5PS cyclin-dependent kinase 5 pseudogene 359946 733787 CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq] 704409,1580863 10721722,12223541,7592934,10915792,8090221,19154537,18325333,18247371,18053171,17496813,17493033,17491008,17121855,17060323,17036052,16678793,16425041,16407256,16189514,15917097,15741232,15536496,15492003,15489334,15342635,15175076,14976144,14702039,12859671,12832520,12832492,12826674,12688339,12491158,12477932,12230554,12226093,12084709,12037672,11882646,11784720,11741927,11604394,11583627,11389014,11168528,11113134,10830966,10753743,10604467,9933594,9010203,7556643,9038181,19081376,20518484,20097924,15123618,14521924,15013773,17591690,18829967,19638632,19874574,17207965,19913121,20628086 704409 8851 NM_003885,AC079336,AY376350,CH471147,AK095754,BC020580,BC026347,BC030792,BC032081,BC035448,BT019573,CR605929,X80343 NP_003876,AAQ74776,EAW80227,EAW80228,AAH20580,AAH26347,AAH30792,AAV38380,CAA56587,Q15078,Q8N619,Q8TAM4,ADQ33201 Hs.500015 CDK5P35|CDK5R|MGC33831|NCK5A|p23|p25|p35|p35nck5a CDK5 activator 1|TPKII regulatory subunit|cyclin-dependent kinase 5 activator 1|cyclin-dependent kinase 5 regulatory subunit 1|neuronal CDK5 activator|regulatory partner for CDK5 kinase|tau protein kinase II 23kDa subunit protein-coding 1349470 CDK5R2 cyclin-dependent kinase 5, regulatory subunit 2 (p39) The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq] 1580863 7592934,15917097,15815621,12761178,12477932,12223541,11784720,11320080,10965112,10923673,10683146,20518484 8941 NM_003936,AC097468,CH471063,DQ307839,AI084857,BC009910,BC041771,BG703026,BT007437,CR614750,U34051 NP_003927,AAX88916,EAW70662,ABB96255,AAH41771,AAP36105,AAC50278,Q13319,Q5XKD4,Q96G76 Hs.158460 NCK5AI|P39|p39nck5ai CDK5 activator 2|cyclin-dependent kinase 5 activator 2|cyclin-dependent kinase 5 activator isoform p39i|cyclin-dependent kinase 5 regulatory subunit 2|neuronal CDK5 activator isoform|p39I protein-coding 1602114 CDK5RAP1 CDK5 regulatory subunit associated protein 1 Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. Multiple transcript variants exist for this gene, but the full-length natures of only two have been determined. [provided by RefSeq] 19913121,20628086,20677014,20585627,10721722,15231747,10915792,11882646,15489334,15329498,14702039,12477932,11780052,11042152,10810093,9373149,8125298 51654 NM_016082,AL355392,CH471077,AF152097,AF161516,AK023992,AK027449,AK095644,AK222745,AK292075,AK295342,AK309906,AK314532,AY462283,AY462284,BC001215,BC050706,BQ072829,CR592631,NM_016408 Q675N4,Q675N5,Q96SZ6,NP_057492,NP_057166,CAI19389,CAI19392,CAI19393,CAI19394,EAW76318,EAW76319,EAW76320,EAW76321,EAW76322,EAW76323,EAW76324,EAW76325,AAD34147,AAF29131,BAB14760,BAB55120,BAD96465,BAF84764,BAG58313,AAS18317,AAS18318,AAH01215,AAH50706,Q53H36 Hs.435952 C20orf34|C42|CDK5RAP1.3|CDK5RAP1.4|CGI-05|HSPC167 CDK5 activator-binding protein C42|CDK5 activator-binding protein C42-like|CDK5 regulatory subunit-associated protein 1 protein-coding 1347674 CDK5RAP2 CDK5 regulatory subunit associated protein 2 Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined. [provided by RefSeq] 632478,1580863 20466722,14654843,10721722,10915792,19282672,18042621,17959831,17081983,16631324,16565220,15793586,15489334,15164053,14702039,12477932,10997877,10677332,16169070,12421765,20339536,11076968,11882646,12221128,12852856,15184881,16462731,17764569,19553473,20080800,20139723,20200978,20201926,7790358 632478 55755 NM_018249,NG_008999,AL138836,AL353736,AL391870,AL590642,CH471090,AB046853,AF087969,AF448860,AK001729,AK025867,AK027636,AK122913,AL133161,AL833481,BC004526,BC019577,BC136275,BC143732,BC143734,BC143753,BC143755,BC143760,BC143762,BC143764,BC146782,BK005504,BX537421,BX537708,BX537759,NM_001011649,BX640896,CR936622,CR936717,HI574114,HI574116 NP_001011649,NP_060719,CAI16963,CAI40653,CAI40655,CAI40656,CAI40657,CAI40925,CAI40926,CAI40927,CAH70769,EAW87457,EAW87458,EAW87459,EAW87460,EAW87461,EAW87462,EAW87463,BAB13459,AAP41926,BAA91865,BAB15263,BAB55253,BAG53794,CAB61487,AAH04526,AAH19577,AAI36276,AAI43763,AAI46783,DAA05504,CAD97663,CAD97819,CAD97828,CAE45944,CAI56765,Q05CZ3,Q5CZA0,Q5JTU8,Q5JTU9,Q66GT8,Q6MZT4,Q7Z3M0,Q96SN8,CBX47546,CBX47547 Hs.269560 C48|Cep215|DKFZp686B1070|DKFZp686D1070|KIAA1633|MCPH3 CDK5 activator-binding protein C48|CDK5 regulatory subunit-associated protein 2|centrosomal protein 215 kDa|centrosome-associated protein 215 protein-coding 731437 CDK5RAP3 CDK5 regulatory subunit associated protein 3 Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein, which may be a substrate of neuronal CDC2-like kinase, has also been found in vascular endothelial cells, where it mediates cell proliferation. [provided by RefSeq] 632478,1580863 17207965,10721722,17043677,17353931,17785205,10915792,19223857,17549666,16327995,16173922,16012757,15790566,15489334,15457556,14702039,12737517,12477932,12054757,11882646,9373149,8125298,16169070,19541669,20228063 632478 80279 NM_176096,AC018521,CH471109,AB062433,AF110322,AF217982,AF343090,AK000260,AK023722,AK223387,AK225274,AK300643,AK301739,BC009957,BC013407,BC072435,BM908175,CR597713,CR598279,CR598659,CR598665,CR600661,CR603693,CR604422,CR605714,CR608342,CR610084,CR610900,CR612080,CR615068,CR615649,CR620196,CR624059,CR626556 ADQ32625,NP_788276,EAW94772,EAW94773,EAW94774,EAW94775,EAW94776,EAW94777,EAW94778,BAB93496,AAG39277,AAG17225,AAK69655,BAB14657,BAD97107,BAH13320,BAG63203,AAH09957,AAH72435,Q96JB5 Hs.20157 C53|HSF-27|IC53|LZAP|MST016|OK/SW-cl.114 CDK5 regulatory subunit-associated protein 3|LXXLL/leucine-zipper-containing ARFbinding protein|cdk5 activator-binding protein c53|ischemic heart CDK5 activator-binding protein C53 protein-coding 735400 CDK6 cyclin-dependent kinase 6 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. [provided by RefSeq] 727582,1580863 16548883,17208333,17431401,17517622,17909018,19075005,19343178,19407485,19487459,19584075,19644859,19674979,19738611,19833767,19838216,19863319,20049410,20086245,20100483,20102411,20233754,20331971,20333249,20354191,20439292,20453000,8078588,8741839,8114739,12861051,14985467,15254224,10205165,17420273,12833137,18029348,19453261,19435910,19266077,19145199,19136653,19124506,19110536,19074885,19040567,18823025,18794853,18776921,18607543,18507837,18497076,18438866,18406353,18398432,18391952,18391951,18391950,18361427,18305152,18281541,18174243,18003885,17989712,17909067,17409409,17353931,16713569,16314645,15790678,15761153,15687240,15592455,15504546,15489334,15232106,15221005,14702039,14694185,14627988,12853948,12690205,12592386,12477932,12082615,12006580,11940479,11828325,11804329,11739795,11416152,11374878,11360184,11358847,11124804,10934208,10602502,10514479,10499802,9751051,9751050,9667749,9380698,9164930,9150368,8889548,8001816,7882308,7759865,7566098,1639063,18495667,8666233,8805225,10580009,9482104,10339564,10491434,12867429,11556834,7629134,20139978,20534551,11971966,19913121,20546612,20628086,18504428,20630868,20846217 727582 1021 NG_015888,AK313491,AV726767,AW665776,BC012914,BC027989,BC052264,BC063591,BC065026,BE893003,BG166127,BM542578,BM542629,BM542736,BM905472,BM978533,BQ048881,BQ213893,BQ231384,BQ773638,BU159055,X66365,NM_001145306,NM_001259,AC000065,AC004011,AC004128,AC005156,AY128534,CH236949,CH471091,AA312213,AB073601,AI023175,AI367890,AI400582,AI738486,AI935072,AK000660,AK055922,AK123134,AK172791 BAG36273,AAH52264,CAA47008,Q00534,NP_001138778,NP_001250,AAM76970,EAL24146,EAW76827,EAW76828,EAW76829 Hs.119882 MGC59692|PLSTIRE cell division protein kinase 6|serine/threonine-protein kinase PLSTIRE protein-coding 734279 CDK7 cyclin-dependent kinase 7 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq] 1580863 16782892,16109376,18676680,17901130,17707548,17628022,17386261,17192257,17012222,16381901,16327805,15695176,15635413,15530371,15489336,15489334,15461668,15328539,15282296,15249124,15220921,14569024,12571245,12477932,12379213,12167161,12140753,12049628,12023960,11445587,11113184,11076863,11062157,11056214,10866664,10734072,10639311,10438593,10428966,10224071,10082552,10066804,10024882,9840937,9832506,9765201,9651670,9570510,9334327,9311822,9184228,9130708,9121429,9056480,9054383,8934526,8849451,8692842,8647641,8628270,15572661,8208544,10801852,9405375,7533895,10583946,8692841,8946909,1939271,2449431,7629134,7799941,9512541,9582279,9790902,10214908,11313499,12393749,12646563,8521393,8208556,8078587,8069918,7944411,7936635,7929589,7885450,10949034,12527756,11062469,20622004,10490622,10958691,11584018,12721286,17643375,18029348,18950027,19170196,19487459,19536092,19625176,19667075,19692168,19738611,19941161,20453000,20522537,8666233,9305922,9315662,9372954,9852112 1022 NM_001799,AC093223,AC145132,AC145145,AY130859,CH471137,AK026509,AK308493,BC000834,BC005298,BI520184,CA437275,CR600515,CR611671,CR620322,L20320,X77303,X77743,X79193,Y13120 NP_001790,AAM77799,EAW51300,EAW51301,AAH00834,AAH05298,AAA36657,CAA54508,CAA54793,CAA55785,CAA73587,P50613,CAL37441,CAL37482,CAL37506,CAL37988 Hs.184298 CAK1|CDKN7|MO15|STK1|p39MO15 39 KDa protein kinase|CAK|Cdk-activating kinase|OTTHUMP00000222032|OTTHUMP00000222033|TFIIH basal transcription factor complex kinase subunit|cell division protein kinase 7|cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)|homolog of Xenopus MO15 Cdk-activating kinase|kinase subunit of CAK|p39 Mo15|serine/threonine kinase stk1|serine/threonine protein kinase 1|serine/threonine protein kinase MO15 protein-coding 1343382 CDK7PS cyclin-dependent kinase 7 pseudogene 9847074 220786 NG_001572,AC016732 pseudo 1348539 CDK8 cyclin-dependent kinase 8 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the 'Mediator-like' protein complexes and the basal transcription machinery. [provided by RefSeq] 1580863 15989967,19790197,19914168,20083228,20098423,20408451,10023686,9734358,9710619,9443979,9121429,8700522,8274451,11867769,9315662,9150135,9305922,14759369,9159119,18691967,21067790,21179167,7568034,14638676,16109376,19240132,19047373,18794900,18794899,18418385,17612495,17212659,15546612,15175163,14983011,12584197,12477932,12145330,12007796,11441538,11416138,11278802,10993082,10235266,10198638,10024883,20514474 1024 AL159159,AL590108,CH471075,L30109,L30110,AK296084,AK296875,AY702976,BC069634,BC094784,BC104492,NM_001260,BC105950,BC107601,CR623449,L23208,X85753 NP_001251,CAI16960,CAH72300,EAX08384,EAX08385,EAX08386,EAX08387,BAG58839,BAG59437,AAU29339,AAH69634,AAI04493,AAI05951,AAI07602,CAA59754,P49336,Q64FY6 Hs.382306 K35|MGC126074|MGC126075 CDK8 protein kinase|cell division protein kinase 8|mediator complex subunit CDK8|mediator of RNA polymerase II transcription subunit CDK8|protein kinase K35 protein-coding 1349857 CDK8PS cyclin-dependent kinase 8 pseudogene 359940 1346548 CDK9 cyclin-dependent kinase 9 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq] 1580863 20370601,19818711,16552184,16344560,15965233,15890914,15753651,15713662,15713661,15635413,15564463,15528190,15514168,15489334,15452830,15286705,15201869,15169877,15164053,15049426,15009212,14963154,14701750,14627702,14580347,14569024,12944466,12894230,12887902,12861003,12832472,16109376,10866664,15107825,8170997,18029348,7853496,12676794,19179338,18971272,18829461,18780834,18753202,18566585,18483222,18250157,18218627,18205180,18039861,17998334,17956865,17942552,17502349,17452463,17352406,17251582,17192257,16980611,16841087,16741955,9827693,9811724,9765201,9696809,9651670,9649438,9570510,9557739,9499409,9491887,9356449,9334326,9334325,9258347,8870681,8849451,8676484,7695608,16838299,15994812,16179353,15498776,15905409,16103164,16146763,16035254,15719065,15638724,15473004,15183343,15139295,14984439,11420046,12944920,15546612,12036313,12718890,12651893,12588988,12486002,12477932,12386808,12368330,12368300,12173051,12115727,12065898,12052871,12037672,11884399,11809800,11780068,11739686,11730934,11713533,11713532,11704662,11689688,11689614,11575923,11572868,11549886,11547919,11545735,11504720,11282025,11278802,11266437,11152495,11145967,11118314,11112772,11080476,10983978,10964778,10958691,10944537,10931842,10913173,10912001,10903437,10757782,10671520,10661406,10656684,10617616,10574912,10545121,10536359,10467404,10465067,10454543,10438593,10393900,10393184,10384302,10377393,10364329,10364292,10329126,10329125,10082552,12753906,12727882,10077579,10066804,10064603,10049833,9990016,9872325,9857195,9843510,9832504,19956800,20493174,12721286,17148452,17255935,17643375,18200011,19387490,19426592,19575011,19741158,19780058,20081228,20190802,20201073,20231357,16601680,16687403,16735508,20805562 1025 NM_001261,AF255306,AF517840,AL162586,CH471090,AB451289,AB451421,AK313828,BC001968,BE549667,BT019903,BX091973,CR618153,CR619508,DB120461,L25676,X80230 NP_001252,AAF72183,AAM54039,CAI39768,EAW87696,EAW87697,BAG70103,BAG70235,BAG36563,AAH01968,AAV38706,AAA35668,CAA56516,P50750,ABM82108,ABM85290,ABM85291 Hs.150423,Hs.706809 C-2k|CDC2L4|CTK1|PITALRE|TAK CDC2-related kinase|cell division cycle 2-like protein kinase 4|cell division protein kinase 9|serine/threonine protein kinase PITALRE|serine/threonine-protein kinase PITALRE protein-coding 1321035 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 2313949,2313941,2313947,2313940,2313946 19502414,19422935,19380854,19324937,19279076,19258437,19258404,19247372,19228808,19225753,19174780,19172244,19139842,19082521,19068216,19020324,19020323,19008344,19002430,18991055,18984664,18923449,18766326,18753662,18719881,18694974,18633108,18618095,18597214,18591388,18587394,18544707,18516622,18477659,18469204,18461161,18437351,18426861,18372903,18285412,18264689,18252897,18210030,18162508,17993580,17928989,17804762,17554300,17463249,17463248,17463246,17460697,14702039,12477932,19033397,20581827,18711366,19056611,19401414,19587699,19592620,19602701,19622614,19718565,19720844,19734900,19741166,19741467,19794065,19808892,19862325,19892838,19933996,20014019,20043145,20075150,20161779,20203524,20215779,20379614,20384434,20424228,20460429,20490451,20503258,20509872,20847106,20550665,20568056,19913121,20580033,20587610,20616309,20628086,20802253,21139019,19760754,20712903,20816152,20879858,20886065,20889853,20929593,21072187 2313949,2313941,2313947,2313940,2313946 54901 NM_017774,AL022717,AL033521,AL035090,AL451080,AL512405,AL513015,AL513188,AL513549,AL590129,CH471087,CS300811,AK000349,AK024151,AK128546,AK291735,AK309457,AK310219,BC064145,BC121020,BC121021,CR623381,CR608328,NG_021195 NP_060244,CAI19768,CAI21023,CAI20280,CAH72474,CAH73074,CAI21687,CAH72467,CAH73706,EAW55425,EAW55426,EAW55427,CAK32475,BAA91102,BAC87494,BAF84424,AAH64145,AAI21021,AAI21022,Q5VV42 Hs.657604 FLJ20342|FLJ46705|MGC75469 CDK5 regulatory subunit-associated protein 1-like 1|OTTHUMP00000016083 protein-coding 1312899 CDKL1 cyclin-dependent kinase-like 1 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Alternative splice variants encoding different protein isoforms have been described, but their full-length nature has not been determined. [provided by RefSeq] 727582,1580863 1639063,15761153,15499549,12477932,9000130,7595554,20125193,20379614 727582 8814 AL359397,NM_004196,AY525548,CH471078,AA780354,AF390028,AK308732,BC104977,X66358,X66359,X66361 NP_004187,AAS00095,EAW65714,EAW65715,EAW65716,EAW65717,AAL58838,AAI04978,CAA47002,Q00532,Q8WXQ5 Hs.679430 KKIALRE|P42 CDC2-related kinase 1|OTTHUMP00000178969|cyclin-dependent kinase-like 1|protein kinase p42 KKIALRE|serine/threonine protein kinase KKIALRE|serine/threonine-protein kinase KKIALRE protein-coding 1320063 CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq] 1580863 9000130,16631599,15499549,15489334,12477932,9847074,7721825,15502848 8999 NM_003948,AC096759,AC104828,AC108939,CH471057,AA813092,AK294866,AK309127,AK312490,BC017417,BC093646,BC093981,CR607098,DB448184,U35146 NP_003939,EAX05740,EAX05741,BAG57969,BAG35392,AAH93646,AAH93981,AAC50918,Q92772 Hs.591698 KKIAMRE|P56 CDC2-related kinase|cyclin-dependent kinase-like 2|p56 KKIAMRE protein kinase|protein kinase p56 KKIAMRE|serine/threonine protein kinase KKIAMRE|serine/threonine-protein kinase KKIAMRE protein-coding 731372 CDKL3 cyclin-dependent kinase-like 3 The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20379614,10463609,18029348,18412109,17945021,15499549,15489334,12927787,12477932 51265 AK294559,NM_001113575,AC104109,AC109454,CH471062,AF087989,AF130372,AK294740,AK297586,NM_016508,AK299305,AK301802,AK310955,BC041799,BX104333 BAH11811,NP_057592,NP_001107047,EAW62263,EAW62264,EAW62265,EAW62266,AAF36509,BAG57883,BAG59974,BAG61318,BAG63253,AAH41799,Q8IVW4 Hs.719926 NKIAMRE cyclin-dependent kinase-like 3|serine-threonine protein kinase NKIAMRE|serine/threonine kinase nkiatre beta|serine/threonine-protein kinase NKIAMRE protein-coding 1603844 CDKL4 cyclin-dependent kinase-like 4 12477932,19241098 344387 NM_001009565,AC079615,AC092672,CH471053,AY845084,AY847283,BC144460 NP_001009565,EAX00349,AAW30008,AAW31760,Q2NME9,Q5MAI5,AAI72293 Hs.403201 cyclin-dependent kinase-like 4 protein-coding 1353625 CDKL5 cyclin-dependent kinase-like 5 This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 1580863 20728410,17474147,19564592,19552836,18809835,18790821,18701457,18266744,18063413,18029348,17993579,17089071,17049193,16611748,16326141,16015284,15917271,15772651,15689447,15635068,15499549,15492925,15489334,12736870,12477932,9721213,8864140,20397747,20602487,16935860,20513142,19241098,19428276,19471977,19734009,19740913,19780792,19793311 6792 NM_003159,NM_001037343,NG_008475,AL109798,CH471074,Z92542,AI286150,AK307444,AL704691,AY217744,BC010966,BC036091,X89059,Y15057 NP_003150,NP_001032420,CAI41159,EAW98940,EAW98941,CAI42485,AAO64440,CAA61445,CAA75342,O76039,AAI52847 Hs.659851 ISSX|STK9 cyclin-dependent kinase-like 5|serine/threonine kinase 9|serine/threonine-protein kinase 9 protein-coding 735341 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-CDK2 or -CDK4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of CDK2, and may be instrumental in the execution of apoptosis following caspase activation. Two alternatively spliced variants, which encode an identical protein, have been reported. [provided by RefSeq] 1580863,2289651,2289652,2289654,2289656,2289659,2289661,2289666,2289672,2289639,2289663,2296047,2289683 18664350,20504375,10698951,11343236,11860939,15149599,15839202,16191374,16200730,16510448,17080554,17588519,18948188,19102934,19263441,19321391,19322654,19329556,19364816,19407849,19409758,19465901,19465904,19481339,19491398,19502805,19528229,19541625,19550124,19557639,19572978,19578553,19581932,19628749,19629483,19638413,19643983,19657064,19657726,19667069,19668373,19670700,19672706,19686092,19692168,19693773,19713748,19723065,19723093,19723627,19730150,19738611,19750108,19773351,19789190,19795398,19798054,19802676,19818775,19819988,19820361,19822666,19855935,19860623,19895794,19910837,19921577,19923826,19931389,19935879,19950226,19955391,19956635,19956888,20006705,20018861,20025780,20039273,20062013,20062063,20071335,20079711,20084294,20101223,20102411,20112071,20139077,20144199,20154723,20160708,20164022,20169278,20179200,20190802,20190813,20190815,20193371,20204299,20204303,20219912,20301197,20331843,20349127,20350217,20351180,20357201,20363991,20388787,20433229,20453000,20524403,9054499,19033664,18243530,15386430,15674334,10323868,8242751,10208428,17553787,9660939,17420273,9106657,9632134,9190208,9840943,11231585,11931757,16782892,19635457,19626602,19538940,19536131,19536092,19513497,19505915,19491257,19487575,19458054,19453261,19435914,19384944,19383287,19367277,19356250,19339270,19332548,19330811,19322021,19305381,19276356,19276188,19275888,19273588,19269967,19262578,19258477,19249676,19237173,19224585,19223555,19221506,19211842,19211566,19177004,19176530,19176223,19161984,19159630,19141585,19129183,19125693,19124506,19122196,19106607,19096232,19091404,19064572,19058005,19041685,16091736,16082224,16081043,16080520,16078010,16054204,16014176,16012716,15975933,15972853,15965232,15964852,15960923,15944261,15942645,15936816,15905168,15890360,15880942,15880444,15878916,15866118,15840769,15819981,15817070,15807891,15798220,15776189,15767448,15764647,15763542,15756520,15753078,15752352,15750619,15746092,15743834,15743033,15738655,15736438,15735102,15716956,15709169,15708847,15694838,15694358,15690394,15671036,15665816,15665589,15664193,15647383,15645120,15623356,15609309,15606307,15598783,15592362,15582998,15574338,15555546,15528212,15510615,15509808,15497017,15492264,15489336,15489334,15475071,15474507,15456784,15389598,18230337,18226366,18215742,18212054,18205772,18203777,18202757,18181833,18174243,18174230,18172194,18166158,18162533,18162471,18156402,18097575,18086887,18071305,18067855,18049450,18046503,18035504,18025091,18024214,18004740,17972508,17952758,17941827,17937105,17925548,17920036,17911387,17894409,17885207,17873065,17855660,17804869,17721438,17700068,17692879,17686574,17684142,17682292,17671727,17671689,17671089,17662641,17656367,17641414,17638911,17634558,17627285,17619016,17617120,17616661,17611661,17606716,17595776,17592292,17585201,17560543,17556661,17536310,17517622,17513615,17502456,17498252,17477906,17465503,17460194,17460193,17448597,17443496,17438369,17431791,17409409,17388661,17371838,17351341,17339230,17337084,17325029,17317670,17303651,17300726,17293864,17292858,17286201,17284535,17283049,17239344,17214516,17203174,17188136,17172832,17172426,17158927,17130157,17109628,17108107,17080297,17079872,17079232,17074759,17072949,17062672,17059853,17055654,17054950,17050675,17016640,17014852,17008550,16982699,16964243,16953367,16952553,16951143,16867219,16837471,16835890,16831599,16818630,16804901,16804724,16803887,16777994,16775840,16765349,16735508,16723699,16718778,16712793,16705171,16678112,16616141,16581770,16580634,16551699,16533812,16514663,16507767,16480585,16479163,16464125,16434701,16432835,16394138,16381901,16364249,16344560,16344056,16343435,16289646,16288006,16287849,16283431,16280359,16276353,16262255,16256947,16254341,16248979,16243918,16214366,16199872,16189514,16182613,16150942,16149052,16142340,16142303,16135801,16122475,16111738,9465025,8861969,12417722,9858587,10973963,10912791,12820963,11022036,10581175,16169070,11896572,15856024,10858286,16009130,15989967,11302688,7780738,9178907,8999999,9705499,15893728,8647134,15710329,15780936,15546622,15580267,15765097,15660129,9515786,15321712,9546435,10873631,8560263,15780937,15616584,11733969,11700040,11695244,11684722,11642719,11559705,11498536,11463845,11389691,11350925,11255227,11254741,11179504,11175348,11084299,11076863,10891505,10878006,10848585,10828884,10764767,10753973,10710306,10692450,10679299,10529385,10486249,10455148,10337545,10022926,10022118,9858585,9837900,9822382,9811456,9799125,9798959,9716736,9467962,9396813,9372966,8861913,8807325,8756624,8700517,8662825,8657154,8259214,8242752,8125163,8101826,8084608,7753561,7698009,7655464,7478594,7478582,16554660,15142382,15179054,17679094,12947099,11313979,9545252,11741909,15001356,14981901,14764039,14762439,14761977,14759525,14751560,14744793,14738489,14726710,14719078,14715257,14712207,14702288,14677632,14647439,14642618,14637149,14633995,14628083,14607337,14607331,14597617,14592451,14580260,14574404,14572899,14504476,13678583,12970742,12964161,12963997,12936910,12931225,12930846,12930830,12890637,12885947,12884030,12867429,12855666,15674341,15084259,20508865,20598695,21115898,19134409,19913121,20510020,20544840,20628086,20644561,20732856,20303835,20622899,20668328,20126416,18710616,20067556,19002614,19001415,18981726,18979138,18950845,18949380,18941111,18923142,18852884,18850004,18842998,18829543,18823025,18818310,18806827,18798266,18794348,18794347,18791688,18790797,18788572,18782865,18766473,18765563,18719376,18713757,18703516,18698027,18694622,18655775,18644983,18632985,18619950,18593937,18583941,18563330,18562088,18559599,18546941,18509005,18508827,18507837,18498065,18463164,18459109,18458079,18456456,18451802,18441278,18427550,18413741,18400748,18386236,18385759,18385383,18374497,18361427,18358634,18353898,18348176,18339845,18334933,18316600,18298387,18292944,18281541,18281511,18278446,18251939,15378017,15371446,15371422,15367606,15347670,15342418,15340083,15317660,15309711,15302882,15297421,15291355,15286705,15251435,15240512,15232106,15226418,15201979,15201954,15190207,15184659,15184045,15181148,15173090,15171713,15169570,15161699,15122333,15111320,15107488,15094066,15082782,15081425,15069711,15060836,15059516,15036662,15033443,15024057,15016552,15014036,15003515,12853982,12847090,12841870,12839982,12825853,12810668,12809883,12782595,12781424,12771291,12748190,12727815,12727210,12716906,12706118,12705898,12699883,12698196,12690110,12681289,12680256,12665584,12665570,12651158,12644083,12642873,12612054,12599217,12573582,12545156,12531694,12527941,12522211,12519780,12517948,12513833,12485998,12477932,12474524,12459877,12457968,12441075,12434183,12431987,12431783,12429910,12417334,12412576,12407107,12400017,12396717,12393707,12392301,12388558,12384701,12379120,12370305,12359245,12354776,12205674,12204872,12168821,12151395,12151347,12151346,12145325,12138103,12123335,12111504,12058028,12055678,12054658,12054572,12054510,12052868,12046058,12036888,12025230,12015083,11989975,11968052,11956602,11953864,11943869,11911463,11908736,11893252,11882322,11877436,11877298,11877274,11872638,11842244,11815410,11809712,11781193,11762751,11756412,11751903,11751405,11748297,20054616,20308078,20383190,19243472,20127253,20444901,20452353,20510146,20370687,20419447,20428774,20818156,20878079,19958256,16474839,20203690,21040707,21076409,15695403,17115032,20466633,20701798,20979563,21048031 2289651,2289652,2289654,2289656,2289659,2289661,2289666,2289672,2289639,2289663,2296047,2289683 1026 NM_078467,NG_009364,AF497972,CH471081,CS284542,CS284544,Z85996,AB209881,AB451290,AB451422,AK298901,AK309512,BC000275,BC000312,BC001935,BC013967,BT006719,CR536533,NM_000389,CR590203,CR593617,CR606246,CR612385,CR617250,CR621127,DA699672,L25610,L26165,L47232,L47233,S67388,U03106,U09579,BQ941282,BU154329,BU193165,DA552678,DA582789,DA702185,DA838987,HI519528,NR_037150,NR_037151,NR_037152 NP_000380,NP_510867,AAM11787,EAX03904,EAX03905,EAX03906,EAX03907,CAJ98559,CAJ98560,CAB06656,BAD93118,BAG70104,BAG70236,BAG61011,AAH00275,AAH00312,AAH01935,AAH13967,AAP35365,CAG38770,AAA16109,AAA19811,AAB59559,AAB59560,AAB29246,AAC04313,AAA85641,P38936,Q59ED0,Q6FI05,Q96LE1,CAL37589,CAL37798,CBX54345 Hs.370771 CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1 CDK-interacting protein 1|CDK-interaction protein 1|DNA synthesis inhibitor|OTTHUMP00000016298|cyclin-dependent kinase inhibitor 1|cyclin-dependent kinase inhibitor 1a|melanoma differentiation associated protein 6|melanoma differentiation-associated protein 6|p21Cip1/Waf1|wild-type p53-activated fragment 1 protein-coding 69115 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. [provided by RefSeq] 1580863,2299085,2293591,2293608,2293624,2293589,2293594,2293582,2293574,2293610,2293619,2299088,2299091,2293605,2293590,2293616,2293628,2293592,2293615,2293630,2293607,2293623,2293593,2293595,2293627,2299089,2299090,2293596,2289127,2293625,2293626,734746 15695403,15746103,20541486,20819778,20851109,21048031,20546339,20818387,16939421,16880511,16842750,16835890,16804901,16705171,16636894,16598766,16537899,16532026,16526056,16480585,16474380,16465393,16458085,16425372,16407831,16398674,16391524,16381901,16365885,16344560,16322693,16300740,16289477,16283443,16273250,16254341,16209941,16194892,16189514,16135812,16123592,16097446,16086840,16052694,16035731,16024059,16023837,16022660,16019539,10918569,8756624,9840943,12082530,15057270,15652749,15890360,16326706,17254966,17254967,8033212,10208428,12698196,12093740,19170105,12244303,19594747,19587092,19536092,19531414,19522032,19493606,19474519,19470470,19445020,19424645,19351827,19281796,19276255,19273599,19266349,19258477,19221487,19187271,19141585,19139918,19124506,19123975,19112177,19107213,19106631,19096232,19093261,19088079,19082479,19079342,19077036,19064572,19056892,19040567,19038492,19034576,19020940,19010853,18987662,18977241,18925698,18922157,18855981,18823025,18822693,18818877,18818203,18808421,18794148,18788572,18781093,18769118,18766473,18758183,18756055,18710949,18710468,18708351,18695910,18694622,18691549,18676680,18673462,18663445,18647205,18645269,18644126,18615582,18604165,18598941,18593937,18593906,18583941,18568767,18543099,18521080,18514141,18507837,18459109,18437054,18425369,18415709,18408738,18393360,18385518,18363870,18350604,18346358,18334933,18334837,18327303,18321488,18305109,18288099,18285702,18281541,18281517,18272788,18222429,18203777,18202760,18181833,18180298,18177895,18174243,18156402,18154709,18095123,18089324,18073348,18037997,18036045,18032931,18027257,18006823,17974156,17974037,17927588,17914108,17908995,17854759,17851288,17804714,17721077,17710155,17695524,17692879,17685465,17671428,17651785,17627278,17613551,17611557,17601350,17586698,17581405,17567920,17560996,17554557,17553787,17550142,17519308,17502456,17470459,17464290,17448572,17409409,17407140,17404436,17404431,17372254,17319789,17316413,17311291,17303695,17285761,17239930,17237771,17216128,17203174,17188136,17178856,17148774,17123889,17072952,17072949,17053782,17030811,17013388,17008550,16966613,16951171,18301453,16012758,16006622,15996662,15963850,15936816,15924242,15833859,15813917,15798096,15777850,15746092,15743786,15736055,15722793,15718252,15713665,15710386,15708847,15701850,15688030,15688004,15652359,15647380,15645120,15627896,15611642,15605273,15592362,15583032,10342870,10337545,10098522,10022926,9858585,9811456,9731735,9716736,9699679,9467944,9192873,9106657,8684460,8629023,8596954,8530100,8012384,7882310,7882309,7882308,7478582,16554660,15050687,11360184,12947099,15619620,12417722,9891079,12140288,16169070,15084260,15531880,9632134,8560263,8637577,15735731,18226337,20631637,20824794,21115898,19724954,20054616,20608352,15579505,12086850,12085261,12082635,12070150,12119282,12052868,12051885,12051866,12042314,12036888,12015771,11967155,11957145,11940657,11940481,12101669,11920465,11908736,11889117,11884439,11877298,11877274,11875067,11420686,11374878,11278754,11076863,10973491,10944199,10913178,10908655,10891505,10891500,10828884,10779628,10559916,10559792,10514396,10397455,12527941,12515730,12508646,12507555,12501191,12490316,12482975,12477932,12429629,12413889,12401804,12386815,12356941,12351407,12244302,12244301,12239454,12210483,12202478,12188931,12133571,12133429,12123335,15579463,15492811,15489336,15489334,15480426,15475071,15469821,15457580,15378017,15374880,15358549,15355997,15352609,15314639,15302935,15289327,15271792,15239677,15217930,15199159,15188025,15170516,15161709,15154004,15146197,15133847,15096506,15064717,15061869,15060836,15034923,15026335,15024385,15014027,14984940,14871979,14760081,14747563,14719054,14707458,14707456,14694185,14666612,14654548,14614018,14612944,14606065,14586408,14573608,14558671,14534684,14517080,12972555,12963837,12954644,12904306,12883474,12882323,12860294,12850001,12824885,12820381,12813041,12809895,12777997,12771291,12748192,12727815,12700629,12684618,12684422,12682919,12670508,12642875,12637327,12599217,12579309,12576455,12531224,12529437,12529328,12529174,10361114,20059402,20372838,19298520,19913121,20541671,20615757,20628086,20698225,20647308,20448040,10323868,11931757,20668328,11800646,16191374,16463785,16774918,18246793,18476592,18604603,18953829,19170196,19263441,19293259,19304516,19349901,19397698,19430707,19451650,19461157,19473963,19533041,19542220,19556892,19557642,19559782,19576211,19584057,19625176,19631451,19636294,19657571,19667240,19692168,19723645,19727727,19730150,19734935,19738611,19777788,19789190,19817957,19819988,19832036,19838216,19843869,19860623,19887899,19889619,19910837,19923826,19924135,19938192,19952944,19953484,19959471,20011080,20074558,20075119,20143334,20193371,20453000,20507346,20530095,20492341,20683061,20624000,20818424,20399237 2299085,2293591,2293608,2293624,2293589,2293594,2293582,2293574,2293610,2293619,2299088,2299091,2293605,2293590,2293616,2293628,2293592,2293615,2293630,2293607,2293623,2293593,2293595,2293627,2299089,2299090,2293596,2289127,2293625,2293626,734746 1027 HI179180,NM_004064,AC008115,AF213700,AF480891,CH471094,S76986,S76988,X84849,Z61220,Z61221,AB451291,AB451423,AF247551,AJ616234,AK298335,AK312461,AY004255,BC001971,BG701047,BT019553,BT019554,CN311141,CR457399,CR592928,DA948043,U10906,CS566132,NG_016341 CBX53898,NP_004055,AAF21058,AAL78041,EAW96275,AAD14244,CAA59284,BAG70105,BAG70237,AAF69497,CAE82383,BAG60584,BAG35368,AAF88142,AAH01971,AAV38360,AAV38361,CAG33680,AAA20240,O43806,P46527,Q6I9V6,Q708J1,Q96TE0,Q9NYG6,Q9UH60,CAL37442,CAL38417,CAL38510,CAL38737,CAN37616 Hs.238990 CDKN4|KIP1|MEN1B|MEN4|P27KIP1 OTTHUMP00000195099|cyclin-dependent kinase inhibitor 1B|cyclin-dependent kinase inhibitor 1b protein-coding 1322980 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) The protein encoded by this gene is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 2311334,1580863 12239171,12107413,11965547,11891530,11891335,11815601,11301189,10764802,10424811,10323243,9465025,8934543,8889548,8841187,8655143,8640800,8610162,7729683,1786629,15580267,9106657,16943770,18029348,19453261,19340297,19221586,19145201,19141585,19116812,19109226,19064572,18822693,18676680,18647205,18521080,18430730,18325103,17986608,17885492,17572845,17464323,17351341,17112701,17050328,16950772,16936778,16705184,16575194,16357845,16124066,16061564,15985436,15978938,15952111,15936816,15900410,15888726,15821902,15749785,15492797,15489334,15332324,15007390,14671317,14627666,14612924,7729684,14530263,12963725,12947099,12925736,12790805,12586619,12553041,12532471,12514787,12477932,21048031,20634891,20565244,20626178,19170105,19170196,19386358,19542869,19544095,19544458,19571260,19590511,19616848,19625176,19692168,19734939,20056082,20106982,9840943,20705733,20503313 2311334 1028 NM_000076,NM_001122630,NM_001122631,NG_008022,AC013791,CH471158,D64137,U48869,BC039188,BC067842,BM673714,CD676249,CR591638,CR605750,U22398 NP_000067,NP_001116102,NP_001116103,EAX02524,EAX02525,BAA11014,BAA11015,AAB05896,AAH67842,AAA85095,P49918 Hs.106070 BWCR|BWS|KIP2|WBS|p57 cyclin-dependent kinase inhibitor 1C|cyclin-dependent kinase inhibitor p57|p57Kip2 protein-coding 737039 CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, MDM1, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq] 2289674,2289675,2289677,2289678,2289680,2289681,2289683,2289686,2289688,2289690,2289698,2289673,2289676,2289679,2289682,2289684,2289685,2289687,2289689,2289699,2296052,2296058,2296049,2296056,2296050,2296051,2296053,2296057,2296066,2296048,2296054,1600814,1600816,1600822,1298567,1600828,1600812,1600820,1358481,1600823,1298747,1358489,2316081,2316082 17980098,20338046,20543829,20508865,20601937,11800646,11860939,12581788,15149599,15842853,16784614,17225865,17517622,17545048,17588519,17659467,17672936,17955473,18560456,18624751,18997617,19057511,19062717,19125298,19144441,19170196,19188815,19188826,19198609,19298278,19375815,19401414,19409979,19430707,19431196,19443857,19465901,19466588,19477956,19484265,19485966,19488782,19506903,19513816,19515076,19521978,19523171,19561196,19567510,19567783,19571771,19582773,19584833,19608668,19618401,19623034,19625176,19626699,19649205,19656618,19665068,19667402,19671846,19679055,19680556,19687314,19690177,19690970,19690981,19692168,19695681,19696622,19697618,19712690,19720844,19726330,19728399,19737931,19738459,19738611,19739123,19741166,19741424,19741467,19759551,19773264,19779933,19787243,19787276,19794065,19795456,19801173,19805338,19808892,19826048,19827123,19829080,19837270,19846821,19851197,19851199,19862325,19862822,19863319,19892838,19901969,19910068,19910796,19924135,19933996,19940364,20010526,20015385,20019239,20032395,20036459,20039270,20039273,20043145,20056647,20056914,20068151,20068183,20069634,20081810,20082263,20083228,20103831,20107316,20112504,20118908,20139761,20145180,20152798,20157576,20161779,20177397,20189796,20195775,20198335,20198771,20203524,20215779,20307196,20308430,20331971,20332669,20346360,20347265,20364137,20384434,20395613,20402675,20424228,20435627,20453000,20453839,20455025,20462933,20490451,20501856,20509872,20512145,20513429,20526219,20549370,7603984,9054499,20231302,20595226,20699639,20712903,20738937,20816152,20819778,20842456,20843112,20847058,20858905,20876876,20879858,20889853,20922573,20971364,21037509,21048031,21061328,21061336,21085193,10208428,19343170,19064572,15308640,12149228,15210108,10353611,11278317,12740913,15989956,17274640,17909018,18583933,8259215,12082630,15305154,15304099,15297971,15297411,15292938,15286709,15260847,15258567,15257544,15254707,15254040,15232106,15223748,15205349,15199070,15197677,15195142,15168247,15164053,15150307,15146471,15140233,15138269,15122588,15112341,15094066,15083191,15075790,15073118,15065884,15059516,15018706,15014032,15014024,15012776,14991744,14985402,14981901,15305164,10360174,9751050,9724636,9529249,9529248,9516223,9425228,9328469,9228064,8910511,8783570,8755727,8723678,8710906,8622687,8595405,8153634,8152487,8060323,7987388,7987387,7972006,7970734,7882351,7726912,7647780,7624155,7624129,7541708,14612427,18775696,17353931,8805225,11297540,11739795,12606707,15107860,16007099,9482104,10822382,10491434,15729358,11556834,9653180,10445844,12127556,12124774,12115568,12107107,12101670,12101111,12099684,12091906,12085228,12082636,12082610,12082609,12077343,12073046,12072543,12072536,12065407,12060387,12046062,12036898,12016143,12009890,12000709,11992549,11960918,11960384,11956078,11953887,11948103,11943335,11920642,11920239,11889694,11883935,11874489,11869517,11869511,11861400,11859969,11859122,11850526,11839665,11839577,11836554,11836163,11830494,11820732,11807902,11804283,11775544,11763427,11758167,11749694,11740049,11733969,11726555,11720478,11719461,11718560,11705866,11700040,11695244,11692873,11687599,11668523,11642719,11500805,11382768,11314038,11314011,11156381,11136714,11008905,10956390,10892805,10891505,10874641,10651484,10580009,10556039,10484981,20415670,19806481,19813107,20549016,20568901,20620135,20703244,20802412,20811718,20957490,21095584,20703084,20727021,20822523,21115918,20091864,20093296,20386740,20544840,20550665,20571754,20574843,20581871,20616309,20629734,20694560,20802253,20372796,20551323,20661408,20683150,16713577,18681909,20013810,20212158,20592349,15582998,16243918,10205165,14720514,14966292,17110379,19667129,19639877,19602701,19596022,19594747,19592620,19578367,19578364,19578363,19559344,19548527,19536092,19519606,19514363,19501493,19500876,19484507,19468254,19461237,19451217,19450526,19423161,19414370,19383911,19383812,19380854,19369633,19366452,19365965,19365840,19351817,19347018,19340300,19339902,19339270,19331830,19331161,19330839,19324937,19320745,19293724,19289615,19287961,19279076,19272367,19269967,19260062,19258477,19258476,19258437,19258404,19247372,19246640,19238106,19237606,19228808,19225753,19224585,19219070,19214202,19212341,19208841,19200577,19186005,19166692,19158841,19149898,19148529,19144660,19141585,19140325,19139842,19137073,19131428,19130399,19124506,19115249,19110720,19105332,19101490,19100258,19099554,19086579,19084918,19077144,19076682,19067849,16767161,16766534,16765318,16760301,16754749,16723698,16705183,16699861,16697958,16696307,16679321,16675157,16649250,16646054,16633071,16633070,16627991,16623784,16619216,16619045,16618910,16618779,16616093,16614947,16614725,16582626,16582619,16575904,16572177,16551852,16541270,16537449,16533530,16533425,16504234,16501607,16481301,16464125,16449996,16447252,16415792,16412137,16410719,16395703,16374456,16357845,16354203,16350398,16320052,16316628,16314743,16313047,16289646,16288006,16273250,16257403,16254459,16254068,16234564,16222700,16211008,16203797,16201750,16199529,16184554,16163549,16161044,16142358,16135794,16117791,16115911,16100943,15998377,15985168,15960923,15937071,15523694,15502810,15495191,15492985,15492852,15492837,15489334,15485902,15459500,15455389,15450420,15447998,15381905,15378017,15373786,15370242,15367885,15361884,15361825,15355988,15336553,15328914,19049976,19047902,19043591,19033397,19020940,19020554,19020324,19020323,19016326,19011513,19005479,19002430,18997786,18991055,18990760,18989737,18984664,18983535,18981015,18958493,18953432,18951899,18949413,18931530,18925945,18923142,18846217,18843795,18838613,18830187,18821580,18818678,18817867,18813351,18807517,18806827,18803811,18798277,18795926,18794045,18791688,18790522,18787961,18779733,18769337,18766473,18761660,18760195,18752124,18725978,18723830,18719881,18719739,18719612,18719357,18714178,18708411,18703154,18694974,18683194,18681962,18676825,18676680,18665038,18664255,18662989,18660489,18644346,18636124,18633108,18622497,18619950,18618095,18617057,18613292,18612309,18606525,18599554,18598350,18597214,18591388,18582208,18577984,18559592,18559569,18558095,18551992,18551412,18549475,18546941,18544707,18544633,18538737,18519679,18516622,18509008,18507837,18505964,18504326,15930346,15917995,15915391,15913553,15897876,15888044,15879498,15878620,15876874,15860862,15859515,15856016,15832197,15824739,15824172,15819981,15813917,15811326,15809712,15800668,15796965,15785933,15775976,15757201,15750619,15724013,15705881,15701968,15701851,15688012,15672251,15668906,15655836,15649253,15623583,15620660,15608367,15577313,15569978,15567177,15547691,18489844,18486890,18484097,18481196,18480108,18469204,18461161,18459109,18452812,18440161,18431743,18426861,18418463,18418067,18415661,18415014,18413741,18410530,18402768,18398432,18395929,18395906,18394881,18394558,18383581,18374497,18372903,18368387,18365017,18358501,18350604,18349282,18347195,18346352,18345032,18343732,18340101,18337833,18337602,18334933,18334838,18334837,18332116,18331779,18328560,18327804,18327208,18316603,18315600,18306932,18305112,18301453,18301250,18300235,18299477,18298387,18296270,18284544,18283637,18281541,18268126,18261630,18246599,18245468,18243403,18239974,18234280,18223479,18219279,18212765,18210030,18202755,18199985,18199718,18199527,18181833,18181189,18178632,18177869,18174243,18164318,18162776,18162508,18161865,18160777,18156978,18081229,18071362,18070208,18059027,18058237,18056257,18038118,18027257,18023021,18021213,18006786,18004878,18004740,17992122,17990010,17989730,17981214,17970082,17970080,17968318,17967182,17936562,17927591,17923809,17923752,17920725,17917670,17912431,17900658,17891181,17890059,17885492,17881001,17850505,17827400,17804762,17713569,17690110,17684142,17675763,17671701,17668170,17665255,17659731,17658461,17654117,17652530,17650224,17642181,17641414,17638879,17630509,17625456,17624602,17611661,17600882,17597480,17597110,17596760,17581420,17575133,17569790,17554300,17549378,17544373,17543474,17539963,17535296,17533400,17523078,17512033,17507663,17505264,17505013,17498885,17493241,17493032,17492760,17488404,17486064,17479413,17478681,17478679,17475325,17466040,17463249,17463248,17463246,17461444,17459456,17452980,17429140,17428253,17420273,17409409,17393105,17388661,17373842,17369842,17351674,17351341,17344414,17340131,17334400,17333389,17326708,17297463,17294450,17292825,17289033,17276933,17255954,17243166,17233832,17218939,17216555,17206475,17201148,17198740,17198188,17198183,17195959,17171691,17149367,17117177,17106238,17094467,17094449,17072968,17063143,17061045,17060721,17052587,17047042,17035234,17028578,17017004,17008550,17001621,16989737,16988943,16948516,16924243,16919029,16912209,16909113,16905682,16897432,16896043,16893909,16888288,16867217,16858682,16855788,16828922,16820088,16802342,16799478,16799475,16791592,16786135,16778587,12673200,12670910,12665584,12660818,12640129,12632492,12632489,12624503,12610506,12592382,12582152,12581892,12565176,12556559,12556369,12549483,12532425,12529334,12514789,12507935,12507899,12482990,12477932,12459645,12459644,12459643,12454511,12446718,12438273,12429789,12420227,12419160,12417717,12406345,12391839,12370286,12368906,12362979,12362978,12360471,12360404,12359767,12357355,12297306,12296515,12228235,12209876,12203782,12200117,12199782,12169206,12168936,12154087,12152785,12151395,14749371,14743210,14735200,14732922,14732230,14729628,14722037,14719111,14719109,14719099,14717921,14679123,14665636,14657708,14646619,14636574,14604992,14601048,14586645,14585357,14536079,14519636,14508519,14506702,12963980,12950144,12949053,12924440,12924439,12918069,12911724,12883667,12883368,12875969,12860972,12853838,12824886,12819388,12792748,12783933,12777976,12763133,12759390,12753296,12738984,12738733,12717828,12702553,12698196,12684640,12684623,20132244,20400236,20522552,20616110,20683407,20697079,20705054,20713054,20871219,20551261,20459531,20588174,20346145,20388212,20419447,20569442,20423915,20721556,20872974,20548956,20565749,20340136,20435884,20514408,20576920,20586029,20695889,20405251,20526108,20682398,20683001,16449650,20572015,20637757,20653773,16107876,19085961,19941368,20444664,20596618,20655927,20453838,20581827,20622881,17569660 2289674,2289675,2289677,2289678,2289680,2289681,2289683,2289686,2289688,2289690,2289698,2289673,2289676,2289679,2289682,2289684,2289685,2289687,2289689,2289699,2296052,2296058,2296049,2296056,2296050,2296051,2296053,2296057,2296066,2296048,2296054,1600814,1600816,1600822,1298567,1600828,1600812,1600820,1358481,1600823,1298747,1358489,2316081,2316082 1029 NM_058197,NM_000077,NG_007485,AB060808,AF044170,AF527803,AL449423,CH471071,DQ325544,DQ406745,S69804,S69822,S69824,U12818,U12819,U12820,X94154,AF115544,AI859822,AL582909,BC015960,NM_058195,BC021998,BI258230,BT007020,CR604976,DQ318021,L27211,S78535,U26727,U38945,AJ844636,BQ012762,BX099567,NM_001195132 NP_478102,NP_478104,NP_000068,BAB91133,AAD02319,AAM77919,AAR05391,CAH70600,CAH70601,EAW58598,EAW58599,EAW58600,EAW58601,EAW58602,EAW58603,ABC50001,ABD72255,AAD14048,AAD14050,AAB60645,CAA63870,AAD11437,AAH15960,AAH21998,AAP35666,ABC47036,AAA92554,AAC60649,AAA82236,AAB01737,P42771,Q208B5,Q2MJK0,Q5ZEY9,Q8N726,Q9UPB7,CAH59950,NP_001182061 Hs.512599 ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|INK4a|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16|p14|p14ARF|p16|p16INK4|p16INK4a|p19|p19Arf CDK4 inhibitor p16-INK4|MTS-1|cell cycle negative regulator beta|cyclin dependent kinase inhibitor 2a|cyclin-dependent kinase 4 inhibitor A|cyclin-dependent kinase inhibitor 2A|cyclin-dependent kinase inhibitor 2A, isoform 4|cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3|cyclin-dependent kinase inhibitor p16|multiple tumor suppressor 1|p16-INK4|p16-INK4a protein-coding 1604354 CDKN2AIP CDKN2A interacting protein 19001376,18292944,17460193,16803988,15109303,14702039,12477932,12154087,9373149,8125298,12581788,18555516 55602 NM_017632,AC112698,CH471056,AF246705,AK000043,AK096180,AK225848,BC022270,BX538162 NP_060102,EAX04691,AAF68967,BAA90902,BAG53225,AAH22270,CAD98042,Q7Z335,Q9NXV6,ABZ92045 Hs.644077 CARF|FLJ20036 CDKN2A-interacting protein|OTTHUMP00000218622|collaborates/cooperates with ARF (alternate reading frame) protein|collaborator of ARF protein-coding 1602992 CDKN2AIPNL CDKN2A interacting protein N-terminal like 12477932 91368 NM_080656,AC109454,CH471062,CS072469,BC008293,BC018086,CR591520,CR602620,CR604625,CR612735,BM997508,DB480185 NP_542387,EAW62259,EAW62260,EAW62261,CAI93607,AAH08293,AAH18086,Q96HQ2 Hs.156506 MGC13017 CDKN2A-interacting protein N-terminal-like protein|CDKN2AIP N-terminal-like protein protein-coding 1348731 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq] 1580863,2289697,2289695,2289684,2289696,2296066,2296065,2316081 10812241,15833197,18384396,19198609,19298278,19368689,19401414,19409979,19443857,19484265,19493449,19665068,19690970,19720844,19727727,19738611,19741166,19741467,19782398,19794065,19808892,19837270,19847924,19862325,19892838,19933996,20043145,20075150,20118908,20161779,20190193,20203524,20215779,20364137,20384434,20395613,20435627,20453000,20462933,20490451,20509872,20512145,20548946,20596618,20663777,8078588,19447967,17553787,17597576,16943770,19602701,19594747,19592620,19578367,19578366,19578363,19559344,19536092,19502414,19501493,19424593,19383911,19380854,19324937,19293724,19279076,19272367,19258477,19258437,19258404,19247372,19228808,19225753,19214202,19200577,19166692,19164764,19144660,19141585,19124506,19109226,19082521,19056724,19056611,19033397,19020324,19020323,19008344,19002430,18997786,18991055,18984664,18925945,18719881,18694974,18636124,18633108,18625718,18618095,18599554,18597214,18591388,19139842,18564286,18551412,18544707,18516622,18507837,18489844,18477659,18469204,18461161,18437351,18426861,18372903,18368387,18332116,18331779,18284544,18281541,18212765,18210030,18174243,18162508,18071362,17928989,17920725,17909067,17900658,17885492,17827400,17804762,17673925,17652530,17554300,17546638,17513607,17478681,17478679,17463249,17463248,17463246,17459456,17409409,17316622,17074388,17008550,16909113,16890288,16872319,16799475,16682076,16618910,16381901,16189514,16169070,16000597,15978938,15960923,15937071,15917995,15819981,15813917,15755508,15523694,15489336,15489334,15475071,15164053,15112341,15093610,14696398,14623092,14519636,12970781,12684640,12592382,12556369,12477932,12060387,12036898,12007796,11992549,11874489,11859969,11695244,11692873,11668523,11283613,11076863,10892805,10574984,9230210,9163429,9111314,9042862,8153634,8001816,7987828,7882351,7675459,7478582,15580267,19913121,20386740,20549515,20550665,20571754,20574843,20616309,20628086,20694560,20802253,20453838,20581827,20231302,20712903,20738937,20816152,20847058,20858905,20862607,20879858,20889853,20971364,21048031 2289697,2289695,2289684,2289696,2296066,2296065,2316081 1030 AAB32712 NM_078487,NM_004936,AF058758,AF513858,AJ844637,AL449423,CH471071,S69805,S75756,AF004819,AF488409,AF488410,AF488731,BC014469,BC018984,BI560960,CR536529,L36844,U17075,NG_023297 NP_511042,NP_004927,AAF28397,AAM44859,CAH59951,CAH70602,CAH70603,EAW58596,EAW58597,AAD14049,AAD14186,AAB69989,AAO49471,AAH14469,CAG38766,AAA50282,AAC50075,AAB32712,O15125,P42772,Q5ZEY8,Q86WJ4,Q8NIA6,Q9UM95,CAL37519,CAL37840,CAL38142,CAL38269 Hs.72901 CDK4I|INK4B|MTS2|P15|TP15|p15INK4b CDK inhibitory protein|CDK4B inhibitor|MTS-2|cyclin-dependent kinase 4 inhibitor B|cyclin-dependent kinases 4 and 6 binding protein|multiple tumor suppressor 2|p14-INK4b|p14_CDK inhibitor|p14_INK4B|p15 CDK inhibitor|p15-INK4b|p15_INK4B protein-coding 2302260 CDKN2BAS CDKN2B antisense RNA (non-protein coding) 17463249,18997786,19198609,19578366,19578367,19888323,20395613,20386740,19214202,18048406,17478681,17478679,17440112,20541999,16712791,20664976,20574843,20601957,20364137,20453838,20512145,20622881 100048912 NR_003529,AL354709,AL449423,BC038540,CB109081,DB451703,DQ485453 Hs.493614,Hs.512599,Hs.716162 ANRIL|CDKN2B-AS|CDKN2BAS|NCRNA00089|RP11-145E5.4|p15AS miscrna 1604405 CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq] 8001816,17353931,10208428,11800646,19401813,19258477,19141585,19124506,18973139,18942719,18829482,18642058,18507837,18394558,18316595,18281541,18174243,17710155,17409409,16802342,16260494,16169070,15489334,15107819,14702039,14645011,12698196,12477932,12203782,12077144,11668523,10737800,10074345,9973200,9636670,9537438,9437433,8840966,8663131,8647873,8397372,8259215,11124804,9482104,19411068,19509251,19738611,20507346,21076409,20819778,21048031 1031 HI558639,BC016173,BC017036,BE783451,BE831176,CR450289,CR612337,U17074,NM_078626,AF041249,AF041250,AF058759,AL359977,AL590455,AY094608,CH471059,AF041248,AK021794,AK091170,BC000598,BC005041,NM_001262 CBX47327,AAH05041,AAH16173,CAG29285,AAC50074,P42773,Q6ICV4,Q9P1T2,ABM82442,ABM85633,NP_001253,NP_523240,AAC39783,AAF28398,CAH70191,CAH71955,AAM11873,EAX06833,EAX06834,EAX06835,EAX06836,AAC39782,BAG52297,AAH00598 Hs.525324,Hs.719924 INK4C|p18|p18-INK4C CDK6 inhibitor p18|OTTHUMP00000009731|cyclin-dependent inhibitor|cyclin-dependent kinase 4 inhibitor C|cyclin-dependent kinase 6 inhibitor p18|p18-INK6 protein-coding 1346352 CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq] 1580863 19258477,19430707,19738611,10557343,10390011,9782052,9751051,9751050,9001419,8575754,7739548,7739547,8741839,15750620,10208428,16322758,19141585,19124506,19063602,18950845,18507837,18281541,18276842,18174243,17804013,17409409,16189514,15489334,15107822,12698196,12665801,12477932,12203782,12062451,11786024,11301189,10962575,10734227 1032 NM_079421,NM_001800,AC011475,AF044171,AF061327,AF518878,CH471106,BC001822,BG719545,BI462387,BI669755,CR542158,CR614055,U20498,U40343,U49399 NP_524145,NP_001791,AAD02320,AAC27450,AAM54045,EAW84122,EAW84123,AAH01822,CAG46955,AAA85436,AAB18139,AAB03772,P55273,ABM83798,ABM83877,ABM87119 Hs.727679,Hs.435051 INK4D|p19|p19-INK4D CDK inhibitor p19INK4d|cell cycle inhibitor, Nur77 associating protein|cyclin-dependent kinase 4 inhibitor D|cyclin-dependent kinase 4 inhibitor D p19|inhibitor of cyclin-dependent kinase 4d protein-coding 1317172 CDKN3 cyclin-dependent kinase inhibitor 3 The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 728374,1580863 8242750,15671017,12745075,8127873,10669749,17056014,16945326,15147518,12477932,11781350,11684017,11463386,10987270,9989807,8242751,7698009,7569954,20677014,19728335,21107309 728374 1033 NM_005192,NM_001130851,AL049778,AL359792,AY194117,CH471061,AF213033,AF213034,AF213035,AF213036,AF213037,AF213038,AF213039,AF213040,AF213041,AF213042,AF213043,AF213044,AF213045,AF213046,AF213047,AF213048,AF213049,AF213050,AF213051,AF213052,AF213053,AK098653,AY257474,AY257475,AY257476,AY257477,AY257478,BC064965,BT019451,CR407666,CR609253,CR621708,EF560750,L25876,L27711,U02681,NG_023235 NP_005183,NP_001124323,AAN86348,EAW80632,EAW80633,EAW80634,AAK06365,AAK06366,AAK06367,AAK06368,AAK06369,AAK06370,AAK06371,AAK06372,AAK06373,AAK06374,AAK06375,AAK06376,AAK06377,AAK06378,AAK06379,AAK06380,AAK06381,AAK06382,AAK06383,AAK06384,AAP13062,AAP13063,AAP13064,AAP13065,AAP13066,AAH64965,AAV38258,CAG28594,ABQ59060,AAA60222,AAA66496,AAC04932,Q16667,Q86SK7,Q86SK8,Q9BPV5,Q9BY34,Q9C043,Q9C044,Q9C045,Q9C048,Q9C050 Hs.84113 CDI1|CIP2|FLJ25787|KAP|KAP1|MGC70625 CDK2-associated dual specificity phosphatase|CDK2-associated dual-specificity phosphatase|Cdk-associated protein phosphatase|cyclin-dependent kinase inhibitor 3|cyclin-dependent kinase interacting protein 2|cyclin-dependent kinase interactor 1|cyclin-dependent kinase-interacting protein 2|kinase-associated phosphatase protein-coding 1353635 CDL1 Cornelia de Lange syndrome 1 1956066 1344924 CDL2 Cornelia de Lange syndrome 2 1316888 CDNF cerebral dopamine neurotrophic factor 19429035,19258449,17611540,15146197,12477932,11752456,11329013 441549 NM_001029954,AC069544,CH471072,AK131035,AV657190,BC037872,BC133042,BC133044,BC144619,BG213461,BQ025443,CN311321 NP_001025125,EAW86263,EAW86264,EAW86265,EAW86266,AAH37872,AAI33043,AAI33045,Q49AH0 Hs.559067 ARMETL1 ARMET-like protein 1|arginine-rich, mutated in early stage tumors-like 1|cerebral dopamine neurotrophic factor|conserved dopamine neurotrophic factor protein-coding 737394 CDO1 cysteine dioxygenase, type I 1580863,2301363,2301355,1300048 17207965,12110289,12871209,18033314,17327371,15489334,15302935,12477932,11101006,9497919,8835096,7524679,17353931,20515469,19199799 2301363,2301355 1036 NM_001801,AC026449,CH471086,D85782,U60232,U80055,AK130357,AK314231,AL534761,BC024241,BX336206,CR536540,CR591921,CR597792,CR606190,CR607883,D85777,Z23010,Z31357 ADQ32846,NP_001792,EAW48957,BAA12873,AAB58352,BAG36901,AAH24241,CAG38777,BAA12872,CAA80552,CAA83234,Q16857,Q16878,ABM82578 Hs.442378 CDO|CDO-I|cysteine dioxygenase type 1 protein-coding 1345886 CDON Cdon homolog (mouse) CDON and BOC (MIM 608708) are cell surface receptors of the immunoglobulin (Ig)/fibronectin type III (FNIII; see MIM 135600) repeat family involved in myogenic differentiation. CDON and BOC are coexpressed during development, form complexes with each other in a cis fashion, and are related to each other in their ectodomains, but each has a unique long cytoplasmic tail.[supplied by OMIM] 1299440 11782431,9214393,15489334,14702039,12720294,12634428,12620190,12477932,20379614,15923648,20519495 1299440 50937 NM_016952,AP000821,AP000842,CH471065,AB209396,AF004841,AI190027,AK022986,AK309694,BC098583,BC112362,BC114435 NP_058648,EAW67672,BAD92633,AAC34901,AAH98583,AAI14436,Q4KMG0 Hs.38034 CDO|MGC111524|ORCAM cell adhesion molecule-related/down-regulated by oncogenes|surface glycoprotein, Ig superfamily member 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1350416 CDPD1 corneal dystrophy and perceptive deafness 1 93976 1345930 CDR1 cerebellar degeneration-related protein 1, 34kDa 12477932,11846061,3474619,2326268,1708201,20515567 1038 NG_016361,NM_004065,AL078639,M31423,BC113472,BC113474,H98878,M16965,N79390 NP_004056,CAI42370,AAA51962,AAI13473,AAI13475,AAA52472,P51861 Hs.446675 CDR|CDR34|CDR62A cerebellar degeneration-related antigen 1 protein-coding 1321565 CDR2 cerebellar degeneration-related protein 2, 62kDa 1580863 19581925,20379614,11988016,16054780,15489334,15081253,12477932,10465786,9809559,9637778,9344654,8889548,2260856,2014264,1763903,1505970 1039 NM_001802,AC092338,CH471249,AK292273,BC017503,BG386156,BG750955,BM714067,CB990819,CR617156,D12981,M63256 NP_001793,EAW50609,EAW50610,BAF84962,AAH17503,BAA02360,AAA51961,Q01850,ABM83129,ABM83130,ABM86325 Hs.513430 CDR62|Yo Yo paraneoplastic antigen|cerebellar degeneration-related protein 2|major Yo paraneoplastic antigen|paraneoplastic cerebellar degeneration-associated antigen protein-coding 1602123 CDR2L cerebellar degeneration-related protein 2-like 12477932 30850 NM_014603,AC087651,CH471099,AK294006,AW239343,BC013105,BC047534,CR598377,L02867 NP_055418,EAW89223,EAW89224,EAW89225,EAW89226,BAG57368,AAH47534,AAA91850,Q86X02,ABZ92326 Hs.78358 HUMPPA cerebellar degeneration-related protein 2-like|paraneoplastic 62 kDa antigen|paraneoplastic antigen protein-coding 1350394 CDRT1 CMT1A duplicated region transcript 1 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 7586531,15520277,14702039,11381029,9787083,9403059,8889548,12477932 374286 BC171723,NM_006382,AC005324,AC005838,AF045592,AF337810,AK057407,BC143291,BU738380,U43383,U65652 NP_006373,AAC69998,AAK15344,AAD10830,AAC52034,O95170,Q9BXD7,AAI72310 Hs.548021,Hs.632233 C170RF1|C17ORF1|C17ORF1A|DKFZp434O1826|HREP|SM25H2 CMT1A duplicated region transcript 1 protein|Charcot-Marie-Tooth duplicated region transcript 1|OTTHUMP00000166036 protein-coding 1351000 CDRT10 CMT1A duplicated region transcript 10 94153 1354486 CDRT11 CMT1A duplicated region transcript 11 94154 1349271 CDRT12 CMT1A duplicated region transcript 12 94155 1352764 CDRT13 CMT1A duplicated region transcript 13 94156 1347087 CDRT14 CMT1A duplicated region transcript 14 94157 1603575 CDRT15 CMT1A duplicated region transcript 15 12477932,11381029 146822 NM_001007530,AC005224,CH471108,BC071823,BC146859,AF355097 NP_001007531,AAK39098,EAW89958,AAI46860,Q96T59 Hs.447556 CMT1A duplicated region transcript 15 protein protein-coding 2301271 CDRT15L1 CMT1A duplicated region transcript 15-like 1 16625196,15197164 644694 AC005324,AC015922,CF272591,NR_033865 A8MXV6 pseudo 2298814 CDRT15L2 CMT1A duplicated region transcript 15-like 2 16625196 256223 AA446206,AI016778,NM_001190790,AC015818,AC087499 NP_001177719,A8MXV6 Hs.131916 CMT1A duplicated region transcript 15 protein-like protein|CMT1A duplicated region transcript 15-like 2 protein-coding 1602662 CDRT15P CMT1A duplicated region transcript 15 pseudogene 12477932,11381029 94158 NR_003261,AC005304,AA453375,BX118788 Hs.633073 pseudo 1354393 CDRT2 CMT1A duplicated region transcript 2 94144 1345039 CDRT3 CMT1A duplicated region transcript 3 94145 1351857 CDRT4 CMT1A duplicated region transcript 4 17903307,14702039,12477932,11381029 284040 NM_173622,AC005517,CH471108,AK093993,AK126240,AK172733,BC029542 EAW89941,NP_775893,EAW89938,BAC04263,AAH29542,Q8N9R6 Hs.164595 FLJ36674|MGC33988|NBLA10383 CMT1A duplicated region transcript 4 protein|putative protein product of Nbla10383 protein-coding 1343934 CDRT5 CMT1A duplicated region transcript 5 94148 1346673 CDRT6 CMT1A duplicated region transcript 6 11381029 94149 AL037161 DKFZp564P0164 protein-coding 1349224 CDRT7 CMT1A duplicated region transcript 7 (non-protein coding) 11381029 94150 AI218510,BX093265,AC005772,NR_033371 Hs.147654 NCRNA00025 miscrna 1353579 CDRT8 CMT1A duplicated region transcript 8 94151 1344073 CDRT9 CMT1A duplicated region transcript 9 11381029 94152 AI220152 protein-coding 734044 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq] 734756,734754,734755,1580863 9115637,8863531,9806839,16461635,16344560,15489334,12477932,9889000,9407135,8889548,12438214,19913121,20628086 734756,734754,734755 1040 NM_001263,AC104082,CH471057,AI673547,AK026697,AK314245,AU139278,BC074833,BC074881,BE504303,CA313675,DN915398,U60808,U65887 NP_001254,EAX05950,EAX05951,BAG36912,AAH74833,AAH74881,AAC51184,AAC50735,Q92903 Hs.654899,Hs.708641 CDS CDP-DAG synthase 1|CDP-DG synthase 1|CDP-DG synthetase 1|CDP-diacylglycerol synthase 1|CDP-diglyceride pyrophosphorylase 1|CDP-diglyceride synthase 1|CDP-diglyceride synthetase 1|CDS 1|CTP:phosphatidate cytidylyltransferase 1|phosphatidate cytidylyltransferase 1 protein-coding 731362 CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq] 1580863 9806839,17081983,15489334,14702039,12477932,12457874,11780052,9889000,9407135,20379614,19913121,20628086 8760 CH471133,AF069532,AK001414,AK027695,AK091045,AK095430,AK303426,AK304763,AK315489,BC025751,CR590453,CR597119,CR604132,CR605913,CR622068,CR624185,CR624244,Y16521,NM_003818,AL121755,AL121924 CAI22631,CAI22633,EAX10424,EAX10425,EAX10426,AAC78305,BAG50907,BAG51366,BAG64477,BAG65518,BAG37873,AAH25751,CAA76270,O95674,ABM82569,ABM85758,NP_003809,CAI22376,CAI22378 Hs.472027 FLJ38111 CDP-DAG synthase 2|CDP-DG synthase 2|CDP-DG synthetase 2|CDP-diacylglycerol synthase 2|CDP-diglyceride diphosphorylase 2|CDP-diglyceride pyrophosphorylase 2|CDP-diglyceride synthase 2|CDP-diglyceride synthetase 2|CDS 2|CTP:phosphatidate cytidylyltransferase 2|OTTHUMP00000030194|phosphatidate cytidylyltransferase 2 protein-coding 1353195 CDSN corneodesmosin This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq] 1599783,1580863 16713569,19851445,20041166,15086562,11739386,9395522,8415725,18369457,16965413,16642438,16344560,16297191,15953084,15654960,15466487,15333584,12754508,12653732,12477932,12472658,12366786,11279026,11169256,10599883,9712893,7818278,4141628,15140227,20448140,20139978,20691404 1599783 1041 BX927139,CR753819,CR759805,NG_012192,AB088114,AF224747,AF224748,AF224749,AF224750,AF224751,AF224752,AF224753,AF224754,AF224755,AF224756,AF224757,AF224758,AF286165,AF491326,AF491328,AF491330,AJ238461,AJ238462,AJ238463,AJ238464,AJ238465,NM_001264,AY328475,CH471081,AF030130,AI768204,AK292636,AU134804,BC031993,L20815,AJ238466,AJ238467,AL662844,AL662867,AL773544,AP000510,AY328474 CAQ08046,CAQ10501,CAQ10590,NP_001255,BAC54948,AAF78559,AAF78560,AAF78561,AAF78562,AAF78563,AAF78564,AAF78565,AAF78566,AAF78567,AAF78568,AAF78569,AAF78570,AAG02419,AAN70994,AAN70995,AAN70996,CAB57266,CAB57267,CAB57268,CAB57269,AAP94640,AAP94641,EAX03358,AAC24196,BAF85325,AAH31993,AAA21321,Q0EFA5,Q15517,Q2L6G8,Q7Z559,Q7Z560,ABM82509,ABM85703,CAB57270,CAB57271,CAB57272,CAI18323,CAI17719,CAI18479,BAB63316 Hs.726699 D6S586E|HTSS|S corneodesmosin|differentiated keratinocyte S protein protein-coding 1604278 CDT1 chromatin licensing and DNA replication factor 1 11125146,15232106,14672932,10436018,11095689,11931757,12045100,18657502,18650381,18617514,18508524,18288374,18184650,18162579,18006835,17598984,17085480,17029205,16949367,16940174,16861906,16835273,16407252,16407242,16273206,16261166,15855168,15489334,15302935,15284237,15257290,15004027,14993212,12840033,12477932,12429841,12192004,11896191,11555648,10898791,10766248,9110174,8619474,15448697,15260975,19054765,18832067,16482215,17318181,18029348,19276081,19906994,20308539,20139978 81620 NM_030928,AC092384,CH471184,AB053172,AF070552,AF321125,BC000137,BC008676,BC008860,BC009410,BC014202,BC021126,BC049205,CR596577,CR597956,CR598796,CR600099,CR603023,CR609788,CR610728,CR613412,CR613446,CR614189,CR625627 NP_112190,EAW66762,EAW66763,EAW66764,BAB61878,AAG45181,AAH00137,AAH08676,AAH08860,AAH09410,AAH14202,AAH21126,AAH49205,Q9H211 Hs.122908 DUP|RIS2 DNA replication factor Cdt1|Double parked, Drosophila, homolog of|double parked homolog protein-coding 1602107 CDV3 CDV3 homolog (mouse) 10497265,16094384,15144186,14702039,12477932,12359334,15580267,15146197,15342556,16341674,8889548 55573 NM_017548,AC016255,CH471052,AF103803,AK025647,AK026272,AK096865,BC007338,BC034727,CR596189,CR610571,BM676291,BM798790,BP336445,CB268158,CN342000,CR991255,NM_001134422,NM_001134423 NP_060018,EAW79176,EAW79177,AAF02423,BAG53384,AAH07338,Q9UKY7,NP_001127894,NP_001127895 Hs.518265 H41 OTTHUMP00000216405|OTTHUMP00000216406|OTTHUMP00000216408|OTTHUMP00000216409|carnitine deficiency-associated gene expressed in ventricle 3|protein CDV3 homolog protein-coding 1321203 CDX1 caudal type homeobox 1 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq] 1580863 19468668,19781065,8530027,19188603,19059241,18953412,18231635,18187048,15894614,15774940,15489334,15215241,15143193,14715525,14704280,12970739,12477932,12124393,11846061,9036867,8563749 1044 NM_001804,AC005895,CH471062,U16360,AF239666,BC096249,BC096250,BC096251,BC096252,BC127122,U15212,U51095 NP_001795,EAW61745,AAA80284,AAF61234,AAH96249,AAH96250,AAH96251,AAH96252,AAI27123,AAC50237,AAB40602,P47902,Q14DX0,Q4VAU3,Q4VAU5 Hs.1545 MGC116915 OTTHUMP00000223968|caudal type homeo box transcription factor 1|caudal type homeobox transcription factor 1|caudal-type homeobox protein 1|caudal-type homeobox protein CDX1|homeobox protein CDX-1 protein-coding 730914 CDX2 caudal type homeobox 2 The level and beta-cell specificity of insulin gene expression are regulated by a set of nuclear proteins that bind to specific sequences within the promoter of the insulin gene (INS; MIM 176730) and interact with RNA polymerase to activate or repress transcription. The proteins LMX1 (MIM 600298) and CDX3 are homeodomain proteins that bind an A/T-rich sequence in the insulin promoter and stimulate its transcription (German et al., 1994 [PubMed 7698771]).[supplied by OMIM] 734757,1580863 18250063,19117933,19251954,19266212,19415720,19449081,19460469,19468668,19578052,19584150,19617623,19686845,19724852,19761587,19762530,19781065,19782160,19795349,19817898,19820687,20043087,20044613,20075618,20133952,20198783,20298183,20298184,20518411,9036867,8635654,7935448,7698771,21074721,19336002,20671195,20367284,20351696,9459001,19421714,19414376,19383647,19371634,19218548,19212618,19158837,19106744,19098678,19047909,18992917,18854960,18843504,18754095,18753946,18752499,18703641,18587323,18581275,18500171,18495206,18353622,18254783,18251778,18187048,18184409,18156982,18038313,17957487,17906616,17876541,17855634,17852856,17614034,17599044,17549351,17534889,17468517,17297462,16996572,16963449,16831200,16794828,16788384,16618413,16509871,16480684,16361536,16331267,16291394,16144916,16027724,15994917,15894926,15782100,15774940,15722794,15645288,15619975,15547744,15517368,15489334,15466189,15362373,15327990,15240568,15217781,15215241,15205684,15190067,15167938,15048136,14615935,14576477,14557879,14525978,13679455,12970742,12968672,12947088,12559945,12518221,12477932,12270138,12117877,11871772,11846061,11733373,11729123,11161380,10677375,10506141,9933478,9247466,9052785,20602288,20699370,20127720,20551175,20514449,20696899 734757 1045 NM_001265,AF007886,AJ278431,AL591024,CH471075,BC014461,U51096,Y13709 NP_001256,AAD05200,CAB94779,CAH70633,EAX08422,AAH14461,AAB40603,CAA74038,Q99626,ABM84552,ABW03475 Hs.174249 CDX-3|CDX3 caudal type homeo box transcription factor 2|caudal type homeobox transcription factor 2|caudal-type homeobox protein 2|homeobox protein CDX-2 protein-coding 1351181 CDX4 caudal type homeobox 4 1580863 15772651,15684390,14505364,12477932,9321471,7655457 1046 NM_005193,AF003530,AF029877,AF029878,AF029879,AL450108,CH471104,BC128233 NP_005184,AAB66319,AAD01894,CAI40795,EAW98667,AAI28234,O14627 Hs.553488 caudal type homeo box transcription factor 4|caudal type homeobox transcription factor 4|caudal-type homeobox protein 4|homeobox protein CDX-4 protein-coding 1347031 CDY1 chromodomain protein, Y-linked, 1 This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq] 1580863 11263480,11163833,10956550,10655032,10192397,9806824,9381176,18807255,18326516,14569460,12837688,12815422,12477932,12149400,12072557,20663794,20039973 9085 AF080597,AK292375,BC033041,BC132955,NM_004680,NM_170723,NG_004755,NG_011754,AC007562,AF000981 AAD22732,BAF85064,AAI32956,Q9Y6F8,NP_004671,NP_733841,AAC52116 Hs.159281 CDY|CDY1A|CDY1B|FLJ77185 chromodomain protein, Y chromosome, 1|testis-specific chromodomain protein Y 1|testis-specific chromodomain protein on Y protein-coding 1604526 CDY10P chromodomain protein, Y-linked 10 pseudogene 12815422,9847074 140043 NG_004832,AC021107 pseudo 1604155 CDY11P chromodomain protein, Y-linked 11 pseudogene 12815422,9847074 378014 NG_004832,AC021107 pseudo 1605210 CDY12P chromodomain protein, Y-linked 12 pseudogene 9847074,12815422 386734 NG_004755,AC007359 pseudo 1605209 CDY13P chromodomain protein, Y-linked 13 pseudogene 12815422,9847074 386735 NG_004755,AC008175 pseudo 1605208 CDY14P chromodomain protein, Y-linked 14 pseudogene 12815422,9847074 386736 AC016752,NG_004755 pseudo 1605207 CDY15P chromodomain protein, Y-linked 15 pseudogene 12815422 386737 NG_004755,AC073649 pseudo 1605206 CDY16P chromodomain protein, Y-linked 16 pseudogene 12815422 386738 NG_004755,AC073649 pseudo 1605205 CDY17P chromodomain protein, Y-linked 17 pseudogene 12815422,9847074 386739 NG_004755,AC068601 pseudo 1605204 CDY18P chromodomain protein, Y-linked 18 pseudogene 12815422 386740 NG_004755,AC023274 pseudo 1605203 CDY19P chromodomain protein, Y-linked 19 pseudogene 12815422,9847074 386741 NG_004755,AC007562 pseudo 1604499 CDY1B chromodomain protein, Y-linked, 1B This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq] 15489334,14569460,12837688,12815422,12477932,12149400,12072557,11263480,11163833,10956550,10655032,10192397,9806824,9381176 253175 NM_001003895,NM_001003894,NG_004755,AC068601,AK292318,BC132929 NP_001003895,NP_001003894,BAF85007,AAI32930,Q9Y6F8 Hs.562095 CDY|CDY1 chromodomain protein, Y chromosome, 1, centromeric|testis-specific chromodomain protein Y 1|testis-specific chromodomain protein on Y, centromeric protein-coding 1605202 CDY20P chromodomain protein, Y-linked 20 pseudogene 12815422,9847074 386742 NG_004755,AC007562 pseudo 1605201 CDY21P chromodomain protein, Y-linked 21 pseudogene 12815422,9847074 386743 NG_004755,AC017005 pseudo 1605200 CDY22P chromodomain protein, Y-linked 22 pseudogene 12815422,9847074 386744 NG_004755,AC017005 pseudo 1605199 CDY23P chromodomain protein, Y-linked 23 pseudogene 9847074,12815422 386745 NG_004755,AC007965 pseudo 3051403 CDY24P chromodomain protein, Y-linked 24 pseudogene 12815422,9847074 387360 AC009976,NG_004636 pseudo 1345198 CDY2A chromodomain protein, Y-linked, 2A This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq] 1580863 15489334,12815422,12575791,12477932,12438810,12149400,12072557,11076863,10655032,10192397,9806824,9381176 9426 NM_004825,NG_004636,AC009976,AF080598,AK292233 NP_004816,AAD22733,BAF84922,Q9Y6F7,AAI11920 Hs.251375 CDY|CDY2|CDY2B Y chromosome chromodomain protein 2A|chromodomain protein, Y chromosome, 2|chromodomain protein, y-linked, 2|testis-specific chromodomain protein Y 2|testis-specific chromodomain protein Y protein 2 protein-coding 1604722 CDY2B chromodomain protein, Y-linked, 2B This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq] 9381176,15489334,12815422,12575791,12477932,12438810,12149400,12072557,10655032,10192397,9806824 203611 NM_001001722,NG_004636,AC009976,BC069087,BC130426,BC130428 NP_001001722,AAH69087,AAI30427,AAI30429,Q9Y6F7 Hs.532657 CDY|CDY2|CDY2A|MGC163298|MGC163300 Y chromosome chromodomain protein 2B|chromodomain protein, Y chromosome, 2 related|testis-specific chromodomain protein Y 2|testis-specific chromodomain protein Y protein 2 related protein-coding 1346553 CDY3P chromodomain protein, Y-linked 3 pseudogene 12815422,9847074 286556 NG_003131,AC009952 pseudo 1348124 CDY4P chromodomain protein, Y-linked 4 pseudogene 12815422 386729 NG_003138,AC002531 pseudo 1604160 CDY5P chromodomain protein, Y-linked 5 pseudogene 12815422,9847074 378008 NG_004636,AC007742 pseudo 1605213 CDY6P chromodomain protein, Y-linked 6 pseudogene 9847074,12815422 386730 NG_004636,AC009976 pseudo 1605212 CDY7P chromodomain protein, Y-linked 7 pseudogene 12815422,9847074 386731 NG_004636,AC009976 pseudo 1605211 CDY8P chromodomain protein, Y-linked 8 pseudogene 12815422,9847074 386732 NG_004636,AC009976 pseudo 1604157 CDY9P chromodomain protein, Y-linked 9 pseudogene 12815422,9847074 378011 NG_004636,AC024183 pseudo 1606325 CDYL chromodomain protein, Y-like Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq] 10192397,19061646,16565220,12947414,12700765,12477932,12072557,10655032,15101818,19730683,19808672 9425 NR_026590,NM_004824,NM_001143970,NM_001143971,AL022725,AL356747,AL359643,CH471087,AF081258,AF081259,AK291601,AK296985,AL050164,BC043397,BC061516,BC108725,BC119682,BE874176,BG766689,BQ930016,BU752976,CR608472 NP_004815,NP_001137442,NP_001137443,CAI20892,CAC36888,CAH73737,EAW55168,AAD22734,AAD22735,BAF84290,BAG59526,CAB43304,AAH61516,AAI08726,AAI19683,Q9Y232 Hs.269092 CDYL1|DKFZp586C1622|MGC131936 CDY-like, autosomal|bA620A17.2 (chromodomain protein, Y chromosome-like)|chromodomain Y-like protein|chromodomain protein, Y chromosome-like, isoform b|testis-specific chromodomain Y-like protein protein-coding 1319946 CDYL2 chromodomain protein, Y-like 2 14702039,12837688,12477932,17577209,19724895,19844255,19851296,20198315,20379614,17207965 124359 NM_152342,AC009070,AC092332,AC099313,CH471114,AK096185,AY273798,BC069440,BC100803,BC100804,BC100805,BC100806,BX390259,CR616267 NP_689555,EAW95563,BAC04720,AAP83842,AAH69440,AAI00804,AAI00805,AAI00806,AAI00807,Q8N8U2,ADQ31980 Hs.373908 FLJ38866 CDY-like 2|chromodomain Y-like protein 2 protein-coding 10241 CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of only two has been determined. [provided by RefSeq] 1580863 15687237,2457922,17167768,19461083,19407471,19361387,19243897,19146852,19077207,19020551,18843289,18836450,18794798,18705345,18507857,18497748,18453603,18445773,18424730,18278069,18215438,18081725,17979980,17960155,17764466,17761831,17623671,17612570,17605118,17546042,17471435,17143599,17071610,16953805,16929097,16924126,16724098,16633066,16568082,16335952,16332726,16291724,16282604,16246332,16115956,15956076,15952183,15917161,15905509,15604255,15602572,15568039,15536067,15509546,15467833,15356119,15317738,15184366,15057824,15004155,15004154,14990688,14522961,12571236,12522268,12477932,12370272,12122002,12108545,12011132,11994468,11912215,11884449,11850628,11751883,11501563,11293162,11035932,10955775,10882072,10805733,10553088,9867848,8543346,8423792,8055923,8018919,7628460,7626603,7606710,7592607,7504281,2537311,2025273,1572649,385181,11694516,20406467,20682994,17620353,11850617,16344560,19349857,19454653,19545674,19720754,19948502,20034698,20090913,20305326,17207965 634 NM_001024912,NM_001712,A43165,AC004785,CH471126,DQ989182,X67277,AK314211,AL833584,AY766113,BC014473,BC024164,BX485906,CR608576,D12502,D90311,M76742,M76743,M76744,S71326,X14831,X16354,X16356,D90312,D90313,J03858,M69176,M72238,DA432598,NM_001184813,NM_001184815,NM_001184816 NP_001020083,NP_001703,CAA02704,AAC18433,AAC18434,AAC18435,AAC18436,AAC18437,AAC18438,AAC18439,EAW57137,EAW57138,EAW57139,EAW57140,EAW57141,EAW57142,EAW57143,ABI75349,CAA47694,AAV34600,AAH14473,AAH24164,BAA02063,AAA57142,AAA57143,AAA57144,AAB31183,CAA32940,CAA34404,CAA34405,P13688,Q13854,Q13859,Q13860,Q16170,Q3KRG8,Q5UB49,Q7KYP5,Q96CA7,BAA14341,AAA58394,BAA14342,BAA14343,AAA51826,AAA51825,AAA58393,NP_001171742,NP_001171744,NP_001171745,ADQ31758 Hs.512682 BGP|BGP1|BGPI BGP-1|CD66a antigen|OTTHUMP00000199190|OTTHUMP00000199193|antigen CD66|biliary glycoprotein 1|biliary glycoprotein adhesion molecule|carcinoembryonic antigen-related cell adhesion molecule 1 protein-coding 1603834 CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 16139472,12477932 388551 NM_001039213,AC092066,AF479646,BC144608,EU021223,BF589367 NP_001034302,AAQ05841,ABS52739,Q2WEN9,AAI56856,AAI60178 Hs.456381 CEAL2 carcinoembryonic antigen like-2 protein|carcinoembryonic antigen-like 2|carcinoembryonic antigen-related cell adhesion molecule 16 protein-coding 1642767 CEACAM18 carcinoembryonic antigen-related cell adhesion molecule 18 16139472 729767 NM_001080405,AC020914 NP_001073874,A8MTB9 Hs.653111 OTTHUMP00000200212|carcinoembryonic antigen-related cell adhesion molecule 18 protein-coding 1601983 CEACAM19 carcinoembryonic antigen-related cell adhesion molecule 19 12975309,12801635,12477932,20634891 56971 NM_020219,NM_001127893,AC092066,AF406955,CH471126,AK027157,AK128234,AK291588,AL390165,AY358394,BC083499 NP_064604,NP_001121365,AAP70002,AAP70003,EAW57287,EAW57288,EAW57289,BAF84277,AAQ88760,AAH83499,Q5XJ15,Q7Z692 Hs.416925 CEAL1|MGC105097 carcinoembryonic antigen-like 1|carcinoembryonic antigen-related cell adhesion molecule 19 protein-coding 1601830 CEACAM20 carcinoembryonic antigen-related cell adhesion molecule 20 16139472,12975309,20379614 125931 NM_001102598,NM_001102599,NM_001102600,NM_001102597,AC069278,AC138472,CH471126,AY358129,EU008600,EU008601,EU008602,EU008603 NP_001096068,NP_001096069,NP_001096070,NP_001096067,EAW57280,AAQ88496,ABS57247,ABS57248,ABS57249,ABS57250,Q6UY09,AAI72298 Hs.689632 UNQ9366 GPAD9366|carcinoembryonic antigen-related cell adhesion molecule 20 protein-coding 1605603 CEACAM21 carcinoembryonic antigen-related cell adhesion molecule 21 14702039,12975309,12477932 90273 NM_001098506,NM_033543,AC005626,CH471126,AI565085,AK023602,AY358084,BC012001,BC106727,BI833768,CR614590 NP_001091976,NP_291021,AAC34569,EAW57048,EAW57049,EAW57050,EAW57051,EAW57052,AAQ88451,AAH12001,AAI06728,Q3KPI0 Hs.655885 CEACAM3|FLJ13540|MGC119874|R29124_1 OTTHUMP00000199036|carcinoembryonic antigen-related cell adhesion molecule 21 protein-coding 3564433 CEACAM22P carcinoembryonic antigen-related cell adhesion molecule 2, pseudogene 20132533 388550 AC138472,AK123850,AK302997,NR_027754 BAG53971,BAG64132 Hs.446909 FLJ41856 pseudo 737213 CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3 This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 20071292,20379614,19089662,19077207,17878338,17506820,17413979,17211733,17071045,16344560,14707113,12864848,12571236,12477932,12005421,11708798,8699114,8508798,2537643,2050678,1427854,8018919 1084 NM_001815,AC022516,CH471126,M22433,X16454,BC106728,D90277,D90278,DA674909,L00692,L00693,E03348,E03349 NP_001806,EAW57062,EAW57063,EAW57064,EAW57065,AAA51965,CAA34473,AAI06729,BAA14321,BAA14322,AAA51969,AAA51970,P40198,Q13982 Hs.11 CD66D|CEA|CGM1|MGC119875|W264|W282 CD66d antigen|OTTHUMP00000196409|carcinoembryonic antigen CGM1|carcinoembryonic antigen gene family member 1|carcinoembryonic antigen-related cell adhesion molecule 3|nonspecific cross-reacting antigen protein-coding 1347882 CEACAM4 carcinoembryonic antigen-related cell adhesion molecule 4 1580863 10737800,2050678 1089 NM_001817,AC005794,AC005955,CH471126,AK298701,BF819374,BX644557,BX644579,D90276 NP_001808,AAC62829,AAC72273,EAW57054,EAW57055,EAW57056,BAG60859,BAA14320,O75871,AAI72306 Hs.12 CGM7|CGM7_HUMAN|NCA Nonspecific cross-reacting antigen (NCA)|carcinoembryonic antigen CGM7|carcinoembryonic antigen gene family member 7|carcinoembryonic antigen-related cell adhesion molecule 4|non-specific cross-reacting antigen W236|nonspecific cross-reacting antigen W236 protein-coding 1351932 CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 1580863 15052268,16169070,18394347,18646695,19214813,19259690,19322585,19430419,19457896,19561534,19629600,19645077,19661342,19661375,19696622,19863186,20034698,20095885,20100688,20121626,20162425,20306655,20361287,20529812,21115936,3814146,19476621,19461083,19386089,19383238,19074466,19032382,18846401,18609108,18375392,18219853,18155162,18083270,17951321,17941001,17936797,17852813,17653079,17589956,17286276,17201906,17016692,16804977,16740002,16574224,15905509,15546874,15130118,14566828,12636102,12477932,12420218,12237895,11964079,10931872,10854848,10816511,10800083,9373149,8125298,3670312,3356015,3220478,3033671,2955415,2342461,2309067,2286372,11406629,16189514,20592365,19861580,20813953,16324274 1048 NM_004363,AC008999,CH471126,CQ800159,M17303,M59255,M59710,M60964,X62151,AK223101,AK310844,BC034671,CR749337,M15042,M16234,M17191,M29540,X16455 NP_004354,EAW57059,EAW57060,CAG27582,AAB59513,AAA62835,AAA51964,CAA44076,BAD96821,AAH34671,CAH18191,AAA51963,AAA51972,AAA51968,AAA51967,CAA34474,P06731,P78448,Q13984,Q53G30,Q68DM9,Q7KZ28,Q8N4D0,ABM81766,ABM87752 Hs.709196 CD66e|CEA|DKFZp781M2392 OTTHUMP00000199033|carcinoembryonic antigen-related cell adhesion molecule 5|meconium antigen 100 protein-coding 1350005 CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) Carcinoembryonic antigen (CEA; MIM 114890) is one of the most widely used tumor markers in serum immunoassay determinations of carcinoma. An apparent lack of absolute cancer specificity for CEA probably results in part from the presence in normal and neoplastic tissues of antigens that share antigenic determinants with the 180-kD form of CEA (Barnett et al., 1988 [PubMed 3220478]). For background information on the CEA family of genes, see CEACAM1 (MIM 109770).[supplied by OMIM] 1580863 18331757,18223215,19077207,17960155,17909799,17653079,17525800,17503391,17286276,17201906,16899629,16740002,16344560,16115956,15826304,15489334,15340161,15316565,15208677,15130118,15081416,14724575,12571231,12477932,12005421,11994468,11896570,11095950,10737800,10666389,9266023,8018919,3619891,3527416,3337731,3128509,2830274,2612212,2341397,2332039,2022629,19329538,3220478,17167768,19411761,14512395,20063526 4680 NM_002483,AC011513,CH471126,M17082,AK312542,BC005008,BI015601,BT009774,DA442875,M18216,M18728,M29541 NP_002474,EAW57061,AAA51971,BAG35441,AAH05008,AAP88776,AAA51739,AAA59907,AAA59908,AAA59909,AAA59915,P40199,Q13985,Q14921,Q14922 Hs.466814 CD66c|CEAL|NCA carcinoembryonic antigen-related cell adhesion molecule 6|non-specific crossreacting antigen|normal cross-reacting antigen protein-coding 1348231 CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7 1580863 20004437,7806520,16627067,15489334,15340161,15057824,12477932,10666389,10436421,9533775,9135022,2537643,1427854 1087 NM_006890,AC005797,CH471126,M22434,U04349,AF006622,AF006623,AK292213,AK296634,AK311285,AK313108,BC121132,L31792,X98311 BAF84902,NP_008821,AAC62825,AAC62826,EAW57057,EAW57058,AAA51966,AAA03663,AAB62924,AAB62925,BAG59236,BAG35930,AAI21133,AAA66186,CAA66955,Q12813,Q14002 Hs.74466 CEA|CGM2 carcinoembryonic antigen CGM2|carcinoembryonic antigen gene family member 2|carcinoembryonic antigen-related cell adhesion molecule 7 protein-coding 1343324 CEACAM8 carcinoembryonic antigen-related cell adhesion molecule 8 1580863 17909799,2208113,2306228,17167768,19077207,18056392,15489334,15057824,12477932,12379336,11994468,11095950,10520185,9427723,2022629,1427854,16740002,16344560 1088 NM_001816,AC004558,CH471126,DQ822518,Z95119,AK297012,AK312652,BC026263,D90064,DA464901,M33326,X52378 NP_001807,AAC13659,EAW57144,ABG46943,CAB08298,BAG59545,BAG35535,AAH26263,BAA14108,AAA59914,CAA36604,P31997,Q0Z7S6,ABM82897,ABM86087 Hs.41 CD66b|CD67|CGM6|NCA-95 CD67 antigen|carcinoembryonic antigen CGM6|carcinoembryonic antigen gene family member 6|carcinoembryonic antigen-related cell adhesion molecule 8|non-specific cross-reacting antigen NCA-95 protein-coding 1349291 CEACAMP1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 1 1572649,1427854 1090 NG_001096,M80575,M96921,AC004558 CEACAM22P|CGM8 pseudo 1351375 CEACAMP10 carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 7851896,7851895 1098 NG_001104,AC005392,U06678 CEACAM31P|CGM17 pseudo 1342833 CEACAMP11 carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 7851896,7851895 1086 NG_001095,AC005392,U06679 CEACAM32P|CGM18 pseudo 1352759 CEACAMP2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 1427854 1091 NG_001097,AC004559,M96922 CEACAM23P|CGM9 pseudo 1354278 CEACAMP3 carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 7851896,7851895,1427854 1092 NG_001098,AC005955,M96923 CEACAM24P|CGM10 pseudo 1350826 CEACAMP4 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 7851896,7851895,1427854 1093 NG_001099,AC005392,M96924 CEACAM25P|CGM11 pseudo 1347337 CEACAMP5 carcinoembryonic antigen-related cell adhesion molecule pseudogene 5 7851896,7851895 1085 NG_001094,AC004558,AC005204,U06672,U06673 CEACAM26P|CGM12 pseudo 1343987 CEACAMP6 carcinoembryonic antigen-related cell adhesion molecule pseudogene 6 7851896,7851895 1094 NG_001100,AC004610,U06674 CEACAM27P|CGM13 pseudo 1352963 CEACAMP7 carcinoembryonic antigen-related cell adhesion molecule pseudogene 7 7851896,7851895 1095 NG_001101,AC004679,U06675 CEACAM28P|CGM14 pseudo 1349495 CEACAMP8 carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 7851896,7851895 1096 NG_001102,AC004784,U06676 CEACAM29P|CGM15 pseudo 1346052 CEACAMP9 carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 7851896,7851895 1097 NG_001103,AC005791,AC024077,U06677 CEACAM30P|CGM16 pseudo 69121 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain promoters and enhancers. It can also form heterodimers with the related proteins CEBP-beta and CEBP-gamma. The encoded protein has been shown to bind to the promoter and modulate the expression of the gene encoding leptin, a protein that plays an important role in body weight homeostasis. Also, the encoded protein can interact with CDK2 and CDK4, thereby inhibiting these kinases and causing growth arrest in cultured cells. [provided by RefSeq] 704418,704404,1625368,1580863 10082561,11340085,11893744,12857754,1563207,16490787,16582099,17431401,18931025,19059241,19371798,19523687,19536888,19561324,19583951,19623175,19631360,19644139,19651529,19662097,19672300,19731081,19797526,19811452,19865112,19901962,19953636,19965647,20018373,20032083,20038735,20075868,20101026,20306678,20368538,20421268,20439648,20460359,20492756,20495894,20513120,8499951,9372966,18559874,18524846,18481268,18451139,18450602,18414493,18313667,18308386,18302931,18263877,18182175,18024476,17989362,17894555,17855628,17851556,17671234,17671233,17671232,17637739,17554374,17504763,17475913,17372916,17347301,17203171,17190859,17188819,17082780,16983342,16893891,16873674,16870193,16858416,16788101,16644732,16537832,16455947,16325577,16226872,16076867,16046528,15928042,15919796,15867211,15855281,15777798,15746035,15684384,15674366,15604894,15575056,15572670,15479564,15340105,15150264,15078966,14766209,14737106,14726504,14701740,14656889,14627805,14517214,12970736,12925529,12915572,12873812,12869508,12861022,12855590,12825852,12757710,12730330,12695546,12692518,12661007,12594283,12592334,12554785,12522006,12522000,12511558,12509469,12493739,12477932,12410800,12393450,12351377,12242300,12145325,12091339,12080077,12069855,12036869,12011976,11997389,11978795,11912209,11830484,11818365,11809705,11684017,11242107,10725330,10567568,10470496,9191024,9139739,8758458,8288579,1840554,1638120,1535333,1427819,11302752,14734562,12524424,9817600,15588942,19659458,20456351,20817090,21038412,20628397,20371743,7575576,15664994,8643605,19453261,19351817,19347879,19304957,19289855,19277035,19228936,19221039,19171880,19126543,19121862,19089912,19059939,19054766,19035457,19020539,18949049,18946494,18809607,18786141,18776924,18768433,18765514,18757096,18729193,18663475,18660489,18616509,18587575,20622021,20659895,20368469,20625112,20157332,20347819,20422469,20534483,16880509,18817785,20888888 704418,1625368 1050 NM_004364,NG_012022,AC008738,EU048234,U34070,BC027902,BC063874,X87248,Y11525 NP_004355,ABS82765,AAC50235,AAH27902,AAH63874,CAA60698,CAA72289,P49715,Q6P3S4,AAI60133 Hs.727649 C/EBP-alpha|CEBP CCAAT/enhancer-binding protein alpha|OTTHUMP00000220269|c/EBP alpha|ccaat/enhancer binding protein, alpha protein-coding 736208 CEBPB CCAAT/enhancer binding protein (C/EBP), beta The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related proteins CEBP-alpha, CEBP-delta, and CEBP-gamma. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses and has been shown to bind to the IL-1 response element in the IL-6 gene, as well as to regulatory regions of several acute-phase and cytokine genes. In addition, the encoded protein can bind the promoter and upstream element and stimulate the expression of the collagen type I gene. [provided by RefSeq] 1580863,1300293,1300295,1300294,625506 20225273,20385540,17724128,18852215,19116245,19133313,19335620,19487031,19489038,19523687,19592659,19632992,19641492,19652226,19690170,19717648,19723873,19733238,19734226,19747512,19811452,19903813,19962993,20004457,20032975,20099975,20351173,20460359,8552662,19453261,2112087,10821850,19248099,19222842,19169276,19126543,19109189,19088256,19064995,19043455,19014341,18809921,18786141,18703796,18682709,18660489,18647749,18512730,18339625,18294142,18198130,18182446,17989362,17928076,17921324,17785586,17705277,17675296,17652082,17620318,17616429,17596295,17583490,7635140,7594592,1884998,19324970,20562859,20638476,20699097,20653818,20702408,17570496,17540774,17513780,17504763,17351148,17335903,17303761,17251582,17203171,16959612,16820889,16785565,16709933,16608438,16563127,16465418,16458921,16453302,16418324,16399783,16318580,16307770,16227626,16026328,16009338,15879117,15878863,15785238,15778453,15777798,15777639,15762841,15710476,15688424,15561713,15498874,15489334,15385533,15381907,15102854,15082764,15044620,14976428,14759369,14729647,14728809,14670999,14645007,14530280,12970736,12947119,12900520,12873812,12857754,12847250,12825852,12821655,12810706,12773552,12748173,12707271,12706815,12692227,12670924,12665574,12631601,12618752,12574125,12524424,12505790,12496392,12493739,12482935,12479114,12477932,12410800,12393563,12367750,12242300,12213825,12202226,12177065,12167619,12161447,12151100,12095417,12071851,12036869,11997389,11893744,11825899,11801594,11792321,11780052,11756662,11751971,11748221,11741938,11726507,11668178,11596110,11580138,11500490,11466389,11257229,11158330,11018027,10775602,10635333,10619021,10318842,10196196,9885903,9817600,9742105,9712049,9570146,9553145,9506442,9495318,9343424,9169458,9139739,9032301,8972203,8855267,8662954,8622667,8384717,8113688,8040336,7651415,1840554,1741402,1638120,1547942,1535333,1518839,1427819,1314426,17031851,16511829,15775988,12202480,20583135,20452968,20605485,20690902,16651265,19029947,20209087 1300293,1300295,1300294,625506 1051 AL161937,AY193834,CH471077,X52560,AF289608,AK291536,BC005132,BC007538,BC021931,BU753628,CR595646,CR596985,CR606949,CR611012,CR614073,CR617287,D63161,M98056,NM_005194 NP_005185,CAC14276,AAN86350,EAW75629,CAA36794,AAL55792,BAF84225,AAH05132,AAH07538,AAH21931,BAA09637,P17676,Q99557,Q9BSC0,ACE87752,ACE87071 Hs.517106,Hs.716248,Hs.720603 C/EBP-beta|CRP2|IL6DBP|LAP|MGC32080|NF-IL6|TCF5 CCAAT/enhancer-binding protein beta|TCF-5|c/EBP beta|interleukin 6-dependent DNA-binding protein|liver activator protein|liver-enriched transcriptional activator protein|nuclear factor NF-IL6|nuclear factor of interleukin 6|transcription factor 5 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431,2316046 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H,GLUCO192_H protein-coding 736554 CEBPD CCAAT/enhancer binding protein (C/EBP), delta The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. [provided by RefSeq] 1298752,1580863,625506 20805509,20829351,8314590,18753137,18660489,18370833,17910034,17903252,17562792,17373909,17234736,16997058,16914534,16397300,16322893,16195339,15901830,15718495,15674331,15588942,15486993,15389879,15389878,15212823,12937035,12857754,12825852,12554732,12477932,12177065,11851384,11741938,9570146,8946919,7789168,7594592,1884998,1840554,1741402,1638120,12524424,19800021,19806320,19811452,20385105,20460359 1298752,625506 1052 NM_005195,AC023991,CH471068,S63168,BC094715,BC105109,BQ773696,M83667 NP_005186,EAW86679,AAB27293,AAH94715,AAI05110,AAA59927,P49716,Q504X4,ACE87170,ACE86489 Hs.440829 C/EBP-delta|CELF|CRP3|NF-IL6-beta CCAAT/enhancer-binding protein delta|c/EBP delta|ccaat/enhancerbinding, protein (c/ebp) delta|nuclear factor NF-IL6-beta protein-coding 733093 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq] 1580863,1300295 12805554,19684604,20042726,18832658,18776924,17688422,17562868,17483073,17347301,17255362,17244686,16918696,16788101,15489334,15308577,12947005,12522000,12515729,12477932,12393450,19109189,12202480,12161447,12036869,11861297,11753076,10359588,10233885,9177240,9032264,8661101,1884998,1638120,15588942,18029348 1300295 1053 NM_001805,NG_009617,AL117258,CH471078,U48865,U80982,BC035797,BG387972,CR594219,U48866 NP_001796,EAW66183,AAC50708,AAC51130,AAH35797,AAC50709,Q15744,ABZ92382,ACE87315,ACE86633 Hs.558308 C/EBP-epsilon|CRP1 CCAAT/enhancer-binding protein epsilon|c/EBP epsilon protein-coding 735927 CEBPG CCAAT/enhancer binding protein (C/EBP), gamma The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. [provided by RefSeq] 1298752,1580863 18029348,20237496,12618752,12477932,12177065,8628277,8089482,1884998,1709121,1377818,1371974,7665092,7501458,16255782,17893230,16189514,15489334,12805554 1298752 1054 NM_001806,AC008744,AK313634,BC007582,BC013128,BT019819,BT019820,CB993585,CR607743,CR624171,U20240 NP_001797,BAG36393,AAH07582,AAH13128,AAV38622,AAV38623,AAC50201,P53567,ABM87454,ABW03893 Hs.429666 GPE1BP|IG/EBP-1 CCAAT/enhancer-binding protein gamma|c/EBP gamma protein-coding 1312755 CEBPZ CCAAT/enhancer binding protein (C/EBP), zeta 1580863 12534345,2247079,17081983,16565220,16331558,15815621,15635413,15489334,12477932,12446671,11790298,11592063,11306579,8604343 10153 AC007390,CH471053,AK312322,BC034475,M37197,NM_005760 NP_005751,AAY14815,EAX00403,BAG35244,AAH34475,AAA51924,Q03701 Hs.135406 CBF|CBF2|HSP-CBF|NOC1 CCAAT-binding factor|CCAAT-box-binding transcription factor|CCAAT/enhancer binding protein zeta|CCAAT/enhancer-binding protein zeta protein-coding 1347678 CECR cat eye syndrome chromosome region 1055 1353390 CECR1 cat eye syndrome chromosome region, candidate 1 This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 10756095,18029348,16303743,15926889,15489334,15461802,14702039,12477932,11381032,11311551,20147294,20379614 51816 NM_177405,NM_017424,AC005300,CH471193,AF190746,AK027682,AK074702,AK130725,AK292689,AK295174,AK304818,AK314321,BC051755,BX111961,CR456417,AB209648 NP_803124,NP_059120,EAW57750,EAW57751,AAF65941,BAB55293,BAC11148,BAF85378,BAG58184,BAG65566,BAG36969,AAH51755,CAG30303,Q59F13,Q8NCJ2,Q9NZK5,BAD92885,CAK54409,CAK54708,ABZ92046 Hs.170310 ADA2|ADGF|IDGFL OTTHUMP00000028854|OTTHUMP00000196142|adenosine deaminase 2|adenosine deaminase CECR1|cat eye syndrome critical region protein 1 protein-coding 1350048 CECR2 cat eye syndrome chromosome region, candidate 2 1580863 12762840,11827465,15640247,14702039,11381032,11214970,20379614 27443 NM_031413,AC004019,AB051527,AF336133,AF411609,AK091754,AK308330,AL832377,BX647449,ABBA01001449 NP_113601,BAB21831,AAK15343,AAL07393,CAH56212,CAH56122,Q9BXF3,AAI66664 Hs.658723 KIAA1740 OTTHUMP00000196214|cat eye syndrome chromosome region, candidate 2 protein-coding 1346490 CECR3 cat eye syndrome chromosome region, candidate 3 11381032 27442 AF277398 Hs.517394 protein-coding 1344655 CECR4 cat eye syndrome chromosome region, candidate 4 (non-protein coding) 11381032 100130717 NR_024482,NR_024483,AC006946,AF307448,AW293178,BI962745 AAK30048 Hs.660066 NCRNA00017 miscrna 1315242 CECR5 cat eye syndrome chromosome region, candidate 5 1580863 18029348,15862967,15489334,14702039,12477932,11381032,20877624 27440 NM_033070,AC006946,CH471193,AF273270,AF273271,AK000461,AK001034,NM_017829,AK123646,AK315156,AL833450,BC042540,BF515203,BM558767,CR596430,CR598180,CR600657,CR601915,CR606299,CR608179,CR610650,CR612464,CR615797,CR616678,CR621415,CR622021,CR622420,CR626647 NP_060299,NP_149061,EAW57747,EAW57748,AAK19151,AAK19152,BAA91180,BAA91475,BAG53930,BAG37602,AAH42540,Q9BXW7 Hs.26890 cat eye syndrome chromosome region, candidate 5 protein-coding 1349802 CECR6 cat eye syndrome chromosome region, candidate 6 15146197,14702039,11381032,20237496,19336002 27439 AC006946,NM_031890,NM_001163079,CH471193,AF307451,AK055398,AK095437,AK095609,BG472529,BQ006940,CN365831 NP_114096,NP_001156551,EAW57744,AAK30049,Q9BXQ6 Hs.209577 OTTHUMP00000196141|cat eye syndrome chromosome region, candidate 6 protein-coding 1350853 CECR7 cat eye syndrome chromosome region, candidate 7 (non-protein coding) 14702039,12483300,12477932,11381032 100130418 NR_015352,AC006946,AK098045,AY026052,BC043198 Hs.725349 FLJ40726|SAHL1 miscrna 1349309 CECR9 cat eye syndrome chromosome region, candidate 9 11381032 30847 AF307449 Hs.542791 protein-coding 737498 CEL carboxyl ester lipase (bile salt-stimulated lipase) The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq] 2313965,2313969,2313967,2313964,2313971,1300048,1580863 19760265,19948975,8639615,2318975,7350912,7578248,2265692,7350913,12031288,1854805,18029348,18803939,18544793,18037996,17005819,16369531,16266293,15841033,15114370,12853459,12821548,12721789,12477932,12110666,11945176,11733511,11563913,11148205,11045623,10024660,9813053,9774442,9530636,9445398,9404644,9353334,9244386,8601635,8424803,7768954,7691717,7654718,7588748,7514266,3995055,2600091,2066663,1991511,1988041,1698625,1676983,1639390,1627550,12166660,19913121,20628086 2313965,2313969,2313967,2313964,2313971 1056 NG_016394,NM_001807,AF072711,AL162417,CH471090,CS180412,M94579,S40178,AF081673,AK299965,BC042510,M85201,S70517,S79774,X54457 NP_001798,AAC26514,CAI13412,EAW88030,EAW88031,EAW88032,EAW88033,CAJ40733,AAA51973,AAB22537,AAC71012,BAG61791,AAH42510,AAA52014,AAB35488,CAA38325,O75612,P19835,Q86SR3,Q9UMB1 Hs.533258 BAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8 bile salt-activated lipase|bile salt-dependent lipase, oncofetal isoform|bile-salt-activated lipase|bucelipase|carboxyl ester hydrolase|carboxyl ester lipase|cholesterol esterase|fetoacinar pancreatic protein|lysophospholipase, pancreatic|pancreatic lysophospholipase|sterol esterase protein-coding 736392 CELA1 chymotrypsin-like elastase family, member 1 Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq] 1580863 15489334,12477932,10620133,9175736,8575772,3648024,1633328,19913121,20628086,1079736,20346360,20379614,6153632,6191979,8794736,8864963,9111002 1990 NM_001971,AC046135,AY740424,CH471111,D00159,X05293,X62258,AF120493,BC069454,BC075091 NP_001962,AAV88109,EAW58189,BAA00117,CAA28916,AAD28441,AAH69454,AAH75091,Q14237,Q9UNI1 Hs.348395 ELA1 chymotrypsin-like elastase family member 1|elastase 1, pancreatic|elastase-1 protein-coding 1602468 CELA2A chymotrypsin-like elastase family, member 2A Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq] 2834346,16710414,16327289,16247445,15489334,15342556,14702039,2307232,12477932,11729383,3646943,3427074,20932654,19913121,20628086,17207965 63036 NM_033440,AL512883,CH471167,AK056678,AK312198,BC007031,BC069331,BC069432,BP324428,BQ787677,CR450291,D00236,M16631,M16652 NP_254275,CAC42421,EAW51727,BAG51782,BAG35131,AAH07031,AAH69331,AAH69432,CAG29287,BAA00165,AAA52374,AAA52380,P08217,Q6ICV2,Q6ISN8,Q6ISU5,ADQ32929 Hs.631866 ELA2A|PE-1 chymotrypsin-like elastase family member 2A|elastase 2A|elastase-2A|pancreatic elastase 2|pancreatic elastase IIA protein-coding 1606295 CELA2B chymotrypsin-like elastase family, member 2B Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq] 17207965,3427074,3646943,16327289,15489334,12477932,19773279 51032 NM_015849,AL512883,CH471167,BC069412,BC069455,BC113540,BC113542,BC171735,BU070386,M16653 ADQ32917,NP_056933,CAC42422,CAI12970,EAW51728,AAH69412,AAH69455,AAI13541,AAI13543,AAA52381,P08218,Q6ISP9,ADR82901 Hs.631871 ELA2B|MGC142100|MGC142102|MGC97052|RP11-265F14.2 chymotrypsin-like elastase family member 2B|elastase 2B|elastase-2B|pancreatic elastase IIB (ELA2B) protein-coding 1346009 CELA3A chymotrypsin-like elastase family, member 3A Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq] 1580863 2460440,2826474,15489334,12477932,12373299,9373149,8125298 10136 AL031281,AL590556,CH471134,M18700,AK225620,AK308510,AK308514,AK308518,AW583482,BC005918,BC007028,BC008383,BC015103,BI833796,D00306,NM_005747 NP_005738,CAH71874,CAH71875,CAH71876,CAH71877,EAW95000,EAW95001,AAA66350,AAH05918,AAH07028,AAH08383,AAH15103,BAA00212,P09093,Q96QL8,ABM84108,ABM87489 Hs.181289 ELA3|ELA3A chymotrypsin-like elastase family member 3A|elastase 1|elastase 3A, pancreatic|elastase 3a, pancreatic (protease e)|elastase IIIA|elastase-3A|protease E protein-coding 1317234 CELA3B chymotrypsin-like elastase family, member 3B Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq] 1580863 2675835,2460440,2737288,2826474,19073396,18424365,18362841,17989309,17103488,16710414,15489334,15351720,15277440,14702039,12477932,10686036,7634150,6191979,6153632,3928381,3477287,3178837,2753124,1079736,20428826 23436 NM_007352,AL590556,CH471134,AK092382,AK315798,BC005216,BI760781,BX497562,BX499439,M16630,M18692 NP_031378,CAH71871,CAH71872,EAW94998,EAW94999,BAG38141,AAH05216,AAA36482,AAA58454,P08861 Hs.181289 CBPP|E1|EL-1|ELA3B cholesterol-binding pancreatic protease|chymotrypsin-like elastase family member 3B|elastase 1|elastase 3B, pancreatic|elastase IIIB|elastase-3B|fecal elastase 1|pancreatic elastase 1|pancreatic endopeptidase E|protease E|proteinase E protein-coding 1351727 CELIAC2 celiac disease 2 11415521,11840196 317782 1353568 CELIAC3 celiac disease 3 10372542,11098935 317783 1351252 CELIAC4 celiac disease 4 14517787 378773 1348182 CELP carboxyl ester lipase pseudogene 7691717,3909943,1639390,1627550 1057 NR_001275,AF072711,AL162417,M94580,AW582943,L14813 AAA16357,Q14018 Hs.654361 CELL|FLJ25862|cell1|cell2|cell3 pseudo 1354258 CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq] 2293492,1580863 19851296,20198315,20379614,20223754,9339365,10716726,19403135,15489334,12782967,12477932,11807409,11086974,10835267,10591208,10380929,16169070,16009131,20595579 2293492 9620 AL031597,CH471138,AF231024,AK302517,AL831846,BC000059,BC013631,AL031588,NM_014246,AL021392 CAI19319,CAI23555,EAW73428,EAW73429,AAF61930,BAH13733,CAD38552,AAH00059,Q8NDT0,Q9NYQ6,NP_055061,CAI20967 Hs.252387 CDHF9|DKFZp434P0729|FMI2|HFMI2|ME2 cadherin EGF LAG seven-pass G-type receptor 1|cadherin family member 9|flamingo homolog 2|protocadherin flamingo 2 protein-coding 733345 CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq] 68762,1580863 10907856,17474147,19487539,19299407,19198609,19060911,19060910,19060906,18649068,18262040,18193044,18193043,10380929,9693030,9039502,20691829,20738937,20864672,20971364,21087763,18179892,10716726,14702039,20570916,20571754,20628086,20679960,16169070,19913121,20031591,20167577,20370913,20442857,20339536,20686565 68762 1952 NM_001408,AB065955,AL390252,CH471122,AF234887,AK124727,AK127086,AK127745,AK309093,D87469 NP_001399,BAC06168,CAI13170,EAW56372,AAG00080,BAC86821,BAC87111,BAA13407,Q6ZS44,Q6ZSX5,Q9HCU4 Hs.57652 CDHF10|EGFL2|FLJ34118|FLJ42737|FLJ45143|FLJ45845|Flamingo1|KIAA0279|MEGF3 EGF-like protein 2|EGF-like-domain, multiple 2|cadherin EGF LAG seven-pass G-type receptor 2|cadherin family member 10|epidermal growth factor-like 2|epidermal growth factor-like protein 2|flamingo homolog 3|multiple EGF-like domains protein 3|multiple epidermal growth factor-like domains 3|multiple epidermal growth factor-like domains protein 3 protein-coding 1342685 CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq] 68762,1580863 17474147,12477932,12421765,10790539,10716726,10380929,9693030,8889548,16169070,15203201 68762 1951 NM_001407,AC005923,AC121252,CH471055,AA411204,AB011536,AF231023,AK299868,BC111703,BC111746,BU738328 NP_001398,EAW64914,BAA32464,AAF61929,BAG61721,Q9NYQ7 Hs.631926 CDHF11|EGFL1|FMI1|HFMI1|MEGF2|RESDA1 EGF-like protein 1|EGF-like-domain, multiple 1|anchor protein|cadherin EGF LAG seven-pass G-type receptor 3|cadherin family member 11|epidermal growth factor-like 1|epidermal growth factor-like protein 1|flamingo homolog 1|multiple EGF-like domains 2|multiple EGF-like domains protein 2|multiple epidermal growth factor-like domains protein 2 protein-coding 1605138 CEMP1 cementum protein 1 17509525,16263347,8889548,12477932,19393626 752014 NM_001048212,AC093525,AY584596,BC146925,BC146926,BM681118 NP_001041677,AAT01221,AAI46926,AAI46927,Q6PRD7,AAI52784,AAI56603 Hs.433499 CP-23|CP23 cementoblastoma-derived protein 1|cementum protein 23|cementum protein-23 protein-coding 1602711 CEND1 cell cycle exit and neuronal differentiation 1 The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq] 16713569,16344560,16181419,15489334,14702039,20029029,12477932,11311134,18499894 51286 NM_016564,AP006621,AY304478,CH471158,CQ782498,AF235030,AK074547,AK312993,BC034732,CR623643,CR625212,CR625795,DA066200 NP_057648,AAP57306,EAX02384,CAF85783,AAF60309,BAC11051,BAG35830,AAH34732,Q8N111 Hs.22140 BM88|FLJ90066|MGC34326 BM88 antigen|cell cycle exit and neuronal differentiation protein 1 protein-coding 1349480 CENPA centromere protein A Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. CENPA encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. CENPA is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 11682612,18195732,19410544,19468067,19625449,19717431,20003272,20080577,20160010,20331851,7962047,19410545,11084331,19543270,19412974,18072184,18007590,17651496,17474147,17388661,17339380,17244537,17199038,17081983,16622420,16622419,15815621,15702419,15489334,15475964,15282608,15085137,15009096,21059934,17207965,20630806,20206496,20566683,12477932,12217960,12019018,12011073,11884609,11756469,11053442,10759786,9605877,9475158,9024683,2023923,14667408,12839935,20739937 1058 NM_001809,NM_001042426,AC011740,CH471053,U82609,BC000881,BC002703,BC011013,BT007246,CR590207,CR595898,CR623149,CR626752,U14518 NP_001800,NP_001035891,AAX93266,AAX93267,EAX00669,EAX00670,EAX00671,EAX00672,AAB47505,AAH00881,AAH02703,AAP35910,AAA57416,P49450,ADQ33220 Hs.1594 CENP-A centromere autoantigen A|centromere protein A, 17kDa|centromere protein a, 17kda|histone H3-like centromeric protein A protein-coding 1312443 CENPB centromere protein B, 80kDa This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq] 1580863 11084331,11682612,19412974,19615732,19714638,19723035,20222802,16713569,16565220,16183641,15635413,15634350,15489334,15009096,14612452,14522975,12477932,12217960,12011073,11884609,11812799,11780052,9451007,8406460,8198697,7896278,7862152,2435739,2335558,1740467,1469042,1893793,18072184,17968937,17258208 1059 NM_001810,AL109804,CH471133,X55039,AF002713,AF002714,BC003649,BC012297,BC021577,BC033658,BC040446,BC053847,CR591718,X05299 NP_001801,CAC17547,EAX10502,CAA38879,AAB70165,AAB70166,AAH12297,AAH53847,CAA28918,P07199,Q71VN3,Q71VN4,Q96EI4 Hs.516855 CENP-B|centromere autoantigen B|major centromere autoantigen B protein-coding 1605600 CENPBD1 CENPB DNA-binding domains containing 1 15231747,14702039,12477932,14667819,12136098 92806 AK074351,AC092143,NM_145039,AK056131,AK315352,AW136311,BC005105,BC009263,BC040698,CD518450,AI039958,AJ330130,AJ335427 NP_659476,BAG37748,B2RD01 Hs.513832,Hs.720887 FLJ23771|FLJ31569|MGC13198|MGC16385 CENPB DNA-binding domain-containing protein 1|CENPB DNA-binding domains containing 1 protein-coding 1354407 CENPC1 centromere protein C 1 Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq] 1580863 11682612,17643375,19482874,19503796,1339310,19328558,19010793,17651496,17623812,17287400,17081983,16716197,16622419,16565220,15272016,15009096,14612452,12490152,12477932,12006616,11925107,9645950,9261558,8941372,8702533,7959789,14578343 1060 NM_001812,AC104806,AC109356,AF151723,CH471057,AK307928,AK308170,AK308214,AK309437,BC030695,BC041117,BX648166,CD710556,M95724 NP_001803,AAF73191,EAX05545,EAX05546,AAH30695,AAH41117,AAA51974,Q03188,Q6PIR0,Q8IW27 Hs.479867 CENP-C|CENPC|MIF2|hcp-4 CENP-C 1|centromere autoantigen C|centromere autoantigen C1|centromere protein C 1|interphase centromere complex protein 7 protein-coding 1350876 CENPC2 centromere protein C2, 140kDa pseudogene 12490152,8406460,7959789 1061 NG_003044,AC010201 CENPC centromere protein c2, 140kda pseudo 1316119 CENPE centromere protein E, 312kDa Centrosome-associated protein E is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. CENPE is proposed to be one of the motors responsible for mammalian chromosome movement and/or spindle elongation. [provided by RefSeq] 1580863 11682612,16682006,19465021,19553660,19625775,19723035,19733075,20021663,20332099,20354862,9763420,7889940,1406971,2022189,9363944,12925705,19525938,18460473,18374647,17535814,17268814,17081983,16926026,16565220,16144904,15297875,15236970,15181147,15159587,15146197,12686615,11337467,11084331,10852915,10477750,9744883,9391217,7851898,20691903,18342609 1062 HI573938,NM_001813,AC079919,CH471057,AA210728,AA210858,AB209996,AK290362,AL596934,AU100312,AW499901,BQ231878,BQ434767,BQ447425,CD644410,CN418651,Z15005 CBX47458,NP_001804,EAX06169,EAX06170,EAX06171,BAE06078,BAF83051,CAA78727,Q02224,AAI56502 Hs.75573 KIF10 CENP-E|Centromere autoantigen E (312kD)|centromere-associated protein E|kinesin family member 10|kinesin-related protein CENPE protein-coding 1352971 CENPF centromere protein F, 350/400ka (mitosin) This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq] 1580863 11084331,14968112,15494374,16672379,16730941,17363900,19102762,19723035,20053638,20213041,20828406,9891037,12974617,7642639,15677469,7651420,12154071,12507285,15927522,16252009,15870278,10373470,12467231,7542657,7904902,19008095,17600710,17205517,17081983,16964243,16601978,16565220,16456711,16219694,14720137,11549288,10852915,9950165,9763420,9497340,7851898,7612011,15654331,20398247,20660191 1063 NM_016343,AL445305,AL445666,CH471100,AK307690,BG680819,BQ774943,BU155312,BU662228,CD654009,CR597113,U19769,U25725,U30872,HI574254 NP_057427,CAH73032,CAH71810,EAW93350,AAA82889,AAA86889,AAA82935,P49454,Q9UHT7,AAI72232,CBX47616 Hs.497741 CENF|PRO1779|hcp-1 AH antigen|CENP-F kinetochore protein|cell-cycle-dependent 350K nuclear protein|centromere protein F|centromere protein F, 350/400ka (mitosin)|kinetochore protein CENPF|mitosin protein-coding 1312617 CENPH centromere protein H Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq] 1580863 11092768,19232519,19170237,18700042,18045986,17651496,17255272,16875666,16716197,16622420,16622419,15930286,15713649,15502821,15489334,15009096,14536089,12477932,17353931,19500341,19625449 64946 AC093223,NM_022909,AC022107,CH471137,CS300652,AB035124,AK123761,AK290746,BC012024,BC015355,CR591291,CR616601 NP_075060,EAW51304,EAW51305,CAK32316,BAB18635,BAG53955,BAF83435,AAH12024,AAH15355,Q9H3R5,ABM85584 Hs.631967 NNF1|PMF1 CENP-H|OTTHUMP00000221978|OTTHUMP00000221979|centromere protein H|interphase centromere complex protein 35|kinetochore protein CENP-H protein-coding 733555 CENPI centromere protein I The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. This gene is also a potential candidate for human X-linked disorders of gonadal development and gametogenesis. [provided by RefSeq] 1580863 8921378,18045986,16716197,16622420,16622419,16565220,15772651,15489334,15009096,12640463,12477932,7758824,1538749 2491 NM_006733,NG_012510,AL109963,CH471115,AK302986,BC005967,BC012462,BG114761,BQ224168,M78295,X97249 EAX02840,NP_006724,CAB72340,CAI42266,CAI42267,CAI42268,EAX02841,EAX02842,EAX02843,BAG64126,AAH12462,CAA65884,Q5JX01,Q5JX02,Q92674 Hs.318398,Hs.348920 CENP-I|FSHPRH1|LRPR1|Mis6 FSH primary response 1|FSH primary response protein 1|OTTHUMP00000023668|OTTHUMP00000023671|centromere protein I|follicle-stimulating hormone primary response protein|interphase centromere complex protein 19|leucine-rich primary response protein 1 protein-coding 1321379 CENPJ centromere protein J This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. [provided by RefSeq] 1580863 20936779,16344560,16316625,15793586,15687488,15489334,15057823,14702039,12843329,12477932,12198240,11592063,8889548,20531387,11984006,15047868,11003675,19503075,19131341,18586240,18162190,16900296,16713569,16631324,16516142,20522431,11076968,12221128,12852856,16462731,17681131,19481458,19481460,19889632,20080800,7790358 55835 NG_009165,NM_018451,AL354798,CH471075,AF139625,AF141337,AF141343,AF217509,AJ303006,AK123551,AK292406,AL833182,BC024209,BC092467,BC113110,BC113111,BC113662,BC113664,BC143757,BC143758,BU687310,DB029167 NP_060921,CAI16634,CAI16635,EAX08351,EAX08352,EAX08353,EAX08354,AAG21074,AAG49440,AAG49446,AAF67620,CAC80028,BAG53911,BAF85095,CAI46195,AAH24209,AAH92467,AAI13111,AAI13112,AAI13663,AAI13665,Q2KHM5,Q569I1,Q5JPD5,Q5T6R6,Q9C061,Q9HC77,Q9NZ89,ADR83295 Hs.513379 BM032|CPAP|LAP|LIP1|MCPH6|MGC131581|MGC131582|MGC142222|MGC142224|SASS4|SCKL4|Sas-4 CENP-J|LAG-3-associated protein|LYST-interacting protein 1|LYST-interacting protein LIP1|LYST-interacting protein LIP7|centromere protein J|centrosomal P4.1-associated protein protein-coding 1605966 CENPK centromere protein K CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 18045986,16716197,16622420,16622419,15489334,15009096,12477932,10996314,8950979 64105 NM_022145,AC008560,AC016620,CH471137,AF315941,AY009151,BC005400,BC008504,CR593673,CR596611 NP_071428,EAW51353,EAW51354,AAL26880,AAG31004,AAH05400,AAH08504,Q9BS16,ABM83467,ABM86678 Hs.529778 AF5alpha|CENP-K|FKSG14|P33|Solt OTTHUMP00000161888|OTTHUMP00000222309|OTTHUMP00000222310|OTTHUMP00000222311|OTTHUMP00000222312|OTTHUMP00000222316|SoxLZ/Sox6-binding protein Solt|centromere protein K|interphase centromere complex protein 37|leucine zipper protein FKSG14|protein AF-5alpha protein-coding 1605310 CENPL centromere protein L CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM] 16716197,16710414,16622420,16622419,16344560,15489334,15009096,14702039,12477932,17207965 91687 CR617320,DA472686,DB244459,NM_001127181,NM_033319,AL109921,CH471067,AK055606,AK056348,BC007071,BC007923,BC019022,BC033154,BC066658,DA173140,DN995099,NM_001171182 AAH66658,Q8N0S6,Q96MW3,NP_001120653,NP_201576,CAI20378,CAI20379,EAW90956,EAW90957,EAW90958,EAW90959,BAB70968,BAB71159,AAH07071,AAH33154,NP_001164653,ADQ32199 Hs.531856,Hs.720473 C1orf155|CENP-L|FLJ31044|FLJ31786|RP3-383J4.1|dJ383J4.3 OTTHUMP00000032689|centromere protein L|interphase centromere complex protein 33 protein-coding 1316428 CENPM centromere protein M The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPM is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 16716197,16622420,16622419,16391015,15489334,15461802,15183305,15009096,14702039,12529303,12477932,10591208,19773279 79019 NM_001002876,NM_024053,NM_001110215,CH471095,Z99716,AK123479,AL160131,BC000705,BC007495,BE797487,BU556693,CR456399,CR457392,CR604562,CR613838,CR617812,CR620369,EU035297 NP_001002876,NP_076958,NP_001103685,EAW60474,EAW60475,EAW60476,CAI41691,CAQ07551,BAC85624,CAB77147,AAH00705,AAH07495,CAG30285,CAG33673,ABS84666,Q9NSP4 Hs.208912 C22orf18|CENP-M|MGC861|PANE1|bK250D10.2 OTTHUMP00000199660|OTTHUMP00000199661|centromere protein M|chromosome 22 open reading frame 18|interphase centromere complex protein 39|proliferation associated nuclear element 1|proliferation-associated nuclear element protein 1 protein-coding 1603636 CENPN centromere protein N The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPN is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 19543270,17081983,16716197,16622420,16622419,15489334,15009096,14702039,12477932 55839 NM_001100625,NM_001100624,NM_018455,AC092718,CH471114,AF217515,AK023669,AK026313,AK296024,AK298554,AW085187,BC007334,BC008972,BC039021,BQ013821 NP_001094095,NP_001094094,NP_060925,EAW95553,EAW95554,EAW95555,EAW95556,AAF67626,BAG51215,BAG58793,BAG60749,AAH07334,AAH08972,Q96H22 Hs.726537 BM039|C16orf60|CENP-N|FLJ13607|FLJ22660 centromere protein N|interphase centromere complex protein 32 protein-coding 1603956 CENPO centromere protein O CENPO is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 19286853,16716197,16622420,16622419,16189514,15815621,15489334,15009096,12477932,14702039,16932742,18007590,19204145,15342556,16344560,19447967,20379614,17207965 79172 NM_024322,AC012073,AC013459,CH471053,AK027859,AK315483,BC002870,CR592453,CR599751,CR617150,AL514456,BP366489,BX110829,DA001951,NM_001199803 NP_077298,AAY14786,AAX93185,EAX00742,EAX00743,EAX00744,BAB55414,BAG37867,AAH02870,Q53SX2,Q9BU64,NP_001186732,ADQ31911 Hs.467898 CENP-O|ICEN-36|MCM21R|MGC11266 OTTHUMP00000155185|centromere protein O|centromeric protein O|interphase centromere complex protein 36 protein-coding 1603809 CENPP centromere protein P CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 19913121,20628086,16622420,16622419,15489334,15164053,14702039,12477932,20379614,17207965 401541 AL136097,AL137848,AL157827,CS063592,AK091247,AK092603,AK307262,AK307435,AL833701,BC071726,BX537851,CR592049,CR597952,NM_001012267 NP_001012267,CAI16210,CAI16699,CAI12591,CAI12592,CAI12594,CAI84531,BAG52317,BAG52579,AAH71726,CAD97859,Q6IPU0,Q7Z672,ADQ31992 Hs.713775 CENP-P|FLJ33928|RP11-19J3.3 centromere protein P protein-coding 1344338 CENPQ centromere protein Q CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 15489334,14702039,14574404,12477932,16622420,16622419 55166 NM_018132,AL590244,AL590668,CH471081,AA460110,AA811376,AI039464,AK001407,AK293016,BC016279,BI768787 NP_060602,CAI13088,CAI14313,EAX04332,EAX04333,BAA91672,BAF85705,AAH16279,Q7L2Z9 Hs.88663 C6orf139|CENP-Q|FLJ10545 OTTHUMP00000016579|centromere protein Q|chromosome 6 open reading frame 139 protein-coding 1604795 CENPT centromere protein T The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 19070575,16716197,16622420,16622419,16565220,15489334,15009096,14702039,12477932,9373149,8125298,16169070,19412974 80152 NM_025082,AC040162,CH471092,AK023173,AK055237,AK056097,AK125366,AK225399,AK291527,AK297570,AK300887,AK301621,BC007642,BC007864,BC015202,BC042204,BX648617,CD242240,CR594299,CR594388,CR598711,CR600277,CR600643,CR601879,CR611547,CR613934,CR619541,CR625330,CR625684 NP_079358,EAW83178,EAW83179,BAB14445,BAB70884,BAG51624,BAF84216,BAG59961,BAG62529,BAG63106,AAH07642,AAH07864,AAH15202,Q96BT3 Hs.288382 C16orf56|CENP-T|FLJ13111|FLJ43376 centromere protein T|interphase centromere complex protein 22 protein-coding 1351678 CENPV centromere protein V 737633,1580863 18772885,12196509,15489334,12477932 737633 201161 NM_181716,AC005971,CH471222,AF514992,AY382899,BC052604,BC137486,BC137487,BQ052702,BU618545 NP_859067,EAX04499,EAX04500,AAM76703,AAR24368,AAH52604,AAI37487,AAI37488,Q7Z7K6 Hs.433422 3110013H01Rik|CENP-V|PRR6|p30 centromere protein V|nuclear protein p30|proline rich 6|proline-rich protein 6 protein-coding 3302684 CENPVL1 centromere protein V-like 1 389857 AL929101,AY730278,NR_033772 AAW56972,Q3ZM64 Hs.187774 PRR6L1 pseudo 1313275 CEP110 centrosomal protein 110kDa This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq] 16213214,16112646,15337773,20936779,14702039,12732615,12477932,11956314,10965126,10688839,10359848,10187805,8889548,11076968,12221128,12852856,16462731,20379614,20508983,7790358 11064 BC089415,BC137284,BC137286,BX640927,CF142611,BC009287,NM_007018,AL137068,AA287401,AF083322,AF513978,AK074079,AK090600,AK093457,AK097636,AK128098,AK297330,AK307387,AL080231,AY651261,BC002932 AAH89415,AAI37285,AAI37287,CAE45965,Q5JVD1,Q5JVD2,Q5JVD3,Q5JVD5,Q5JVD6,Q7Z7A1,Q8WX70,NP_008949,CAD20123,CAI12355,CAI12356,CAI12357,CAI12358,CAI12359,CAI12360,CAM13285,AAC32373,AAP43846,BAB84905,BAC87273,BAG59789,AAX35689,AAH02932 Hs.653263 CEP1|FAN|bA165P4.1 110 kDa centrosomal protein|OTTHUMP00000022002|OTTHUMP00000158535|bA165P4.1 (ortholog of mouse Ma2a8)|bA165P4.2 (centrosomal protein 1)|centriole associated protein|centriolin|centrosomal protein 1|centrosomal protein of 110 kDa protein-coding 1601819 CEP120 centrosomal protein 120kDa 17920017,16344560,14702039,12477932,17920006,19079260,19584346,20360068,8889548 153241 NM_153223,AC010369,AC106792,CH471086,AK093409,AK095646,AK296999,AL833929,BC040527,BC144558,BX648687,CR627324,DB092908,CB854619,DA508726,NM_001166226 NP_694955,EAW48873,EAW48874,EAW48875,BAC04155,BAC04596,BAG59537,CAD38785,CAH10561,CAH10371,Q8N960,NP_001159698 Hs.483209 CCDC100|DKFZp686I06246|FLJ36090|FLJ38327 OTTHUMP00000159173|OTTHUMP00000223003|centrosomal protein of 120 kDa|coiled-coil domain containing 100|coiled-coil domain-containing protein 100 protein-coding 1350849 CEP135 centrosomal protein 135kDa 737633 11076968,12221128,12852856,16462731,17681131,18851962,7790358,17353931,17081983,15231748,14702039,14654843,12477932,9734811,8889548 737633 9662 NM_025009,AC092627,AC110611,AC118280,AB014535,AK023683,AK309554,BC012003,BC136535,BC136536,BK005586,BU734129 NP_079285,BAA31610,AAH12003,AAI36536,AAI36537,DAA05590,Q66GS9 Hs.518767 CEP4|KIAA0635 centrosomal protein 4|centrosomal protein of 135 kDa|centrosome protein cep135 protein-coding 1604825 CEP152 centrosomal protein 152kDa 21059844,21059850,10409428,15146197,15489334,14654843,12477932,12421765,10048485,11076968,20547088,20852615,20598275,21131973 22995 AK025247,BC029603,NM_014985,AC012379,AC022084,AC084757,CH471082,AB020719,AK303805,BC069186,BC107721,BC117182,BX648822,AI038653,BG941609,CN394613,NG_027518,NM_001194998 NP_055800,EAW77355,BAA74935,BAG64759,AAH69186,AAI07722,AAI17183,O94986,Q3B7A2,NP_001181927 Hs.443005,Hs.597323 FLJ21594|KIAA0912|MCPH4 centrosomal protein of 152 kDa protein-coding 1605084 CEP164 centrosomal protein 164kDa 19197159,18283122,17954613,16052032,14702039,14654843,12477932,10470851,11076968,12221128,12852856,16462731,7790358 22897 AP000892,AP001822,CH471065,AB028975,AK001412,AK125995,AK302991,AK303067,AL117632,AL137265,AL833532,BC000602,BC054015,BX647583,BX648682,CR592556,NM_014956 NP_055771,EAW67318,EAW67319,EAW67320,EAW67321,BAA83004,BAA91677,BAC86384,BAH13870,BAG64184,CAB56023,CAB70664,AAH00602,AAH54015,Q6ZU43,Q9NTH6,Q9UPV0,AAI52749,AAI56877 Hs.504009 FLJ54767|KIAA1052 centrosomal protein of 164 kDa protein-coding 1605104 CEP170 centrosomal protein 170kDa The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 17081983,16710414,16083285,15616186,15489334,15342556,15324660,14702039,14654843,12477932,9455484,19626040,20379614 9859 NM_001042404,NM_001042405,NM_014812,AC092782,AL606534,CH878356,AB007939,AB022657,AB022658,AB022659,AK001664,AK296812,AK299552,AK310003,AK313722,AL161964,BC050722,BC078155,BC140794,BC146790,BP349206,BP349680,CB410835 NP_001035863,NP_001035864,NP_055627,CAI12942,CAI12943,CAI12944,CAI12945,EAW50478,BAA32315,BAA83378,BAA83379,BAA83380,BAG50958,BAG59385,BAG61497,BAG36464,CAB82309,AAH50722,AAH78155,AAI40795,AAI46791,Q5SW79,Q6AZE1,Q9NSN9 Hs.533635 FAM68A|KAB|KIAA0470 KARP 1 binding protein|KARP-1-binding protein|KARP1-binding protein|OTTHUMP00000037806|OTTHUMP00000037807|OTTHUMP00000037808|OTTHUMP00000037809|XRCC5 binding protein|centrosomal protein of 170 kDa protein-coding 1602374 CEP170L centrosomal protein 170kDa-like This locus appears to be a transcribed pseudogene similar to centrosomal protein 170kDa (CEP170). An approximately 50 kb region upstream of this locus also is homologous to CEP170, but is not transcribed. [provided by RefSeq] 12477932,16189514,19447967 645455 NR_003135,AC092670,BC014590 Q96L14 Hs.408293 CEP170L|FAM68B|KIAA0470|KIAA0470L|MGC26143 pseudo 1605669 CEP192 centrosomal protein 192kDa 18207742,17980596,15862967,14654843,11230166,10997877,11076968,12221128,12477932,12852856,16344560,16462731,19615732,20379614,7790358,14702039 55125 NM_032142,AP001357,AP002449,AA761229,AB046789,AF318363,AK001214,AK074074,AK094448,AK096548,AL136818,AL833494,BC144480,BC144481,BX648232,BX649151,CR607085,DB079620 NP_115518,BAB13395,AAL55870,BAA91559,BAB84900,BAG52866,CAB66752,AAI44481,AAI44482,Q8TEP8,Q9HCK3 Hs.100914 OTTHUMP00000218756|OTTHUMP00000218758|centrosomal protein of 192 kDa protein-coding 1347521 CEP250 centrosomal protein 250kDa This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternately spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 20936779,18851962,9647649,12140259,11076968,10880350,18391951,15489334,15324660,15231748,12857871,12477932,11780052,11035016,9506584,12221128,12852856,16462731,20189936,20508983,7790358,20546612 11190 NM_007186,AL121586,CH471077,AF022655,AF049105,AK297572,AK307861,AL037087,BC001433,BC071869,BC144706,BM996444 NP_009117,CAB89415,CAI42839,CAI42840,CAO03345,CAO03346,EAW76204,EAW76205,EAW76206,EAW76207,AAC06349,AAC07988,BAG59963,AAH71869,Q5JWS5,Q5JWS6,Q6IPL3,Q9BV73,AAI72439 Hs.443976 C-NAP1|CEP2|CNAP1|MGC88542 250 kDa centrosomal protein|OTTHUMP00000030757|centrosomal Nek2-associated protein 1|centrosomal protein 2|centrosomal protein, 250-KD|centrosome associated protein|centrosome-associated protein CEP250 protein-coding 1604786 CEP290 centrosomal protein 290kDa This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq] 16682973,12493773,14654843,18950740,18772192,18694559,18327255,18079693,17898177,17724218,17705300,17617513,17564974,17564967,17554762,17409309,17345604,17081983,16909394,16682970,16632484,16541075,15474516,14702039,12477932,11162484,11149944,9205841,8889548,14623284,20130272,11076968,12221128,12852856,16462731,19753312,19764032,19959640,7790358,20683928,20936779,20801516,21068128 80184 NM_025114,NG_008417,AC091516,BX537653,CH471054,AB002371,AF273044,AF317887,AK023677,AK025632,AY590151,BC008641,BC043398,BK005587,BU676074,DQ109808 NP_079390,EAW97413,EAW97414,BAA20828,AAG34904,AAK01919,BAB15196,AAT01278,AAH08641,AAH43398,DAA05591,AAZ83370,O15078,Q05BJ6,Q6PNN2,Q96HG2,AAI56463,AAI72566 Hs.150444 3H11Ag|BBS14|CT87|FLJ13615|FLJ21979|JBTS5|JBTS6|KIAA0373|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16 Bardet-Biedl syndrome 14 protein|CTCL tumor antigen se2-2|POC3 centriolar protein homolog|cancer/testis antigen 87|centrosomal protein of 290 kDa|monoclonal antibody 3H11 antigen|nephrocytsin-6|prostate cancer antigen T21|tumor antigen se2-2 protein-coding 1605105 CEP350 centrosomal protein 350kDa The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq] 17878239,17081983,16713569,16710414,16565220,16344560,16341674,16314388,15615782,18029348,20936779,14702039,14654843,12477932,11891061,9455484,9110174,8889548,8619474,20379614 9857 NM_014810,AL353708,AL390718,AL590632,AL645487,CH471067,AB007949,AF287356,AF387614,AK000704,AK022813,AK026986,AK095601,AK126046,AY007149,BC017847,BC033619,BC048310,BM675467,BM787594,BM905228,CR618030,DA716735,DB072323 NP_055625,CAI14833,CAI14834,CAI14835,CAI14836,CAI15177,CAM21477,CAH72345,CAH72346,EAW91070,EAW91071,EAW91072,EAW91073,BAA32325,AAL55733,AAL91355,AAH17847,Q05D72,Q5T2X2,Q5T2X4,Q5VT06,Q7LGH1,AAI72424 Hs.413045 CAP350|FLJ38282|FLJ44058|GM133|KIAA0480|RP11-502H18.1 centrosome associated protein 350|centrosome-associated protein 350|centrosome-associated protein of 350 kDa protein-coding 1313311 CEP55 centrosomal protein 55kDa 19525975,18948538,18641129,17853893,17556548,17237822,17081983,16790497,16406728,16344560,16198290,16189514,15489334,15164054,14702039,12477932,9373149,8125298,16385451,19609239,19855176,17207965,21079244 55165 NM_001127182,NM_018131,AL356214,CH471066,CS158015,AB091343,AK001402,AK223495,AK315536,AY788918,BC008947,BX640718,CR604604,CR617073,CR623893,DA545074,CS588714,CS588722,CS588730 NP_001120654,NP_060601,CAH72324,CAH72325,EAW50071,EAW50072,CAJ29952,BAE45243,BAA91670,BAD97215,BAG37915,AAX14687,AAH08947,CAE45837,Q53EZ4,ADQ31821,CAN87445,CAN87449,CAN87453 Hs.14559 C10orf3|CT111|FLJ10540|URCC6 cancer/testis antigen 111|centrosomal protein of 55 kDa|up-regulated in colon cancer 6 protein-coding 1602500 CEP57 centrosomal protein 57kDa Translokin binds basic fibroblast growth factor (FGF2; MIM 134920) and mediates its nuclear translocation and mitogenic activity (Bossard et al., 2003 [PubMed 12717444]).[supplied by OMIM] 19913121,20628086,12717444,12954732,10942595,14654843,15489334,14702039,12477932,12421765,7788527,15607035,11076968,12221128,12852856,16462731,18029348,7790358 9702 NM_014679,AP001877,CH471065,AK098647,AK125164,AK291245,AK293277,AY225092,AY239292,BC001233,BC009053,BC029385,BC031048,BC039711,BG699097,CR605423,CR614205,D42054 NP_055494,EAW66965,EAW66966,EAW66967,EAW66968,EAW66969,EAW66970,BAF83934,BAG56806,AAO73938,AAP72184,AAH01233,AAH29385,AAH39711,BAA07654,Q86XR8 Hs.101014 KIAA0092|PIG8|TSP57 FGF2-interacting protein|centrosomal protein of 57 kDa|proliferation-inducing protein 8|testis-specific protein 57|translokin protein-coding 1602096 CEP63 centrosomal protein 63kDa This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq] 12812986,14654843,18391952,16410684,16344560,16189514,15489334,14702039,12477932,11329013,20546612,17207965,11076968,12221128,12852856,16462731,19266077,7790358,17043677,20846217 80254 AK056465,AK123837,BC014050,BC068997,BG182631,BI561425,BK005503,BX499930,CX751767,DB011963,N36992,NM_001042383,NM_001042400,NM_025180,AC010207,AC026117,AC109912,AC139764,CH471052,AA746981,AF113697,AK023448,AK023738,AK054897,NM_001042384 BAB71192,AAH14050,AAH68997,DAA05503,Q96MT8,NP_001035843,NP_001035842,NP_001035859,NP_079456,EAW79136,EAW79137,EAW79138,EAW79139,EAW79140,EAW79141,EAW79142,BAB14578,BAB14662,ADQ31770 Hs.443301 FLJ13386|MGC78416 OTTHUMP00000216301|centrosomal protein of 63 kDa|centrosome protein CEP63 protein-coding 1319252 CEP68 centrosomal protein 68kDa 18042621,17570516,17194215,15815621,15489334,14702039,14654843,12477932,12168954,12107410,9847074,9628581,21072201 23177 NM_015147,AC007318,AC007386,CH471053,AB011154,AK000856,AK093846,AK094069,AK098786,AK299373,AK301173,AK304110,BC002982,BC004873,BC030534,BX648774,CA398160,CR595830,AC084278 NP_055962,AAF03518,AAY14962,EAW99926,EAW99927,EAW99928,EAW99929,BAA25508,BAG61363,BAG62760,BAG65012,AAH02982,AAH04873,AAH30534,CAI46022,Q05C09,Q53RN6,Q5HYA6,Q76N32 Hs.709257 FLJ25920|FLJ36750|KIAA0582 centrosomal protein of 68 kDa protein-coding 1601960 CEP70 centrosomal protein 70kDa 16713569,16189514,15489334,14702039,14654843,12477932,9373149,8125298,11076968,12221128,12852856,16462731,19060904,7790358,20734064 80321 AF202146,AF289495,AK023098,AK225440,AK314314,BC016050,BC030598,BM908227,BU634409,BX331994,NM_024491,AC020890,AC022497,AC072045,CH471052,AK294587,AK295866,AK299003,AK301913 AAG35616,EAW79063,AAG35791,BAB14403,AAH16050,AAH30598,Q8NHQ1,NP_077817,EAW79060,EAW79061,EAW79062,BAH11818,BAH12209,BAH12924,BAH13584 Hs.531962 BITE|FLJ13036 OTTHUMP00000216891|OTTHUMP00000216893|OTTHUMP00000216896|centrosomal protein of 70 kDa|p10-binding protein protein-coding 1603993 CEP72 centrosomal protein 72kDa The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. 17081983,15489334,14702039,14654843,12477932,12168954,10819331,16189514,20228799,11076968,12221128,12852856,16462731,19447967,19536135,20090771,7790358 55722 NM_018140,AC026740,AC106772,CH471235,AB040952,AK001427,BC000132,BC001750,BG718176,AK299072 NP_060610,EAW51011,EAW51012,EAW51013,BAA96043,BAA91685,AAH00132,AAH01750,Q9P209,BAG61138 Hs.591741 FLJ10565|KIAA1519|MGC5307 centrosomal protein of 72 kDa protein-coding 1313060 CEP76 centrosomal protein 76kDa 737633 19460342,16713569,16189514,15489334,14702039,14654843,12477932,11076968,12221128,12852856,16462731,7790358 737633 79959 NM_024899,AP005482,CH471113,EF445040,AK022604,AK298223,AK301964,AK303117,AL833727,BC026307,BC033026 NP_079175,EAX01543,ACA06091,BAB14123,BAG60493,BAG63377,BAG64223,CAH56252,AAH26307,Q8TAP6 Hs.236940 C18orf9|FLJ12542|HsT1705 centrosomal protein of 76 kDa protein-coding 1346976 CEP78 centrosomal protein 78kDa 737633 16344560,14702039,14654843,12477932,11076968,12221128,12852856,16462731,7790358,20562859 737633 84131 NM_001098802,NM_032171,AL353705,AK022705,AK303457,BC058931,BC091515,BC128058,CA429071,DA970400 NP_001092272,NP_115547,CAI40237,CAI40238,CAI40239,CAI40240,BAB14190,BAH13965,AAH91515,AAI28059,Q5JTV9,Q5JTW2 Hs.374421 C9orf81|FLJ12643|FLJ52093|IP63|MGC135040 OTTHUMP00000021520|centrosomal protein of 78 kDa protein-coding 1343045 CEP97 centrosomal protein 97kDa 737633 18029348,19460342,19596235,17719545,18068367,15489334,14702039,12477932,9373149,8125298 737633 79598 AK294784,NM_024548,AC084198,CH471052,AK026700,AK093100,AK225573,AK309806,AL833269,BC041085 BAG57909,NP_078824,EAW79777,EAW79778,BAB15531,BAC04055,AAH41085,Q8IW35 Hs.444135 2810403B08Rik|FLJ23047|FLJ26462|LRRIQ2 OTTHUMP00000214249|centrosomal protein of 97 kDa|leucine-rich repeat and IQ domain-containing protein 2|leucine-rich repeats and IQ motif containing 2|leucine-rich repeats and iq motif containing 2 protein-coding 1352373 CEPA congenital episodic primary apnea 1064 1345389 CEPT1 choline/ethanolamine phosphotransferase 1 Cholinephosphotransferase catalyses the final step in the synthesis of phosphatidylcholine by the transfer of phosphocholine from CDP-choline to diacylglycerol. The synthesis of phosphatidylethanolamine by ethanolaminephosphotransferase occurs using an analogous reaction. This gene codes for a choline/ethanolaminephosphotransferase. The protein can synthesize either choline- or ethanolamine- containing phospholipids. Two alternatively spliced transcripts encoding the same isoform have been identified. [provided by RefSeq] 1580863 10191259,14702039,12477932,12216837,17207965,20379614 10390 NM_001007794,NM_006090,AL355816,CH471122,AF068302,AF138862,AK023381,AL832104,AL833102,BC032610,BC049196,BX487092,CR602494,CR612795,CR616896 NP_001007795,NP_006081,CAI19367,EAW56469,EAW56470,EAW56471,EAW56472,AAD25170,AAF61194,BAG51187,CAH10403,AAH32610,AAH49196,Q9Y6K0,ADQ31816 Hs.363572,Hs.636850 DKFZp313G0615|MGC45223 choline/ethanolaminephosphotransferase|choline/ethanolaminephosphotransferase 1|hCEPT1 protein-coding 1347243 CER1 cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq] 1580863 17029022,19453261,19390575,17207965,18452192,15621726,15489334,15340161,15164053,12477932,10049596,9501024,19113921,19789190 9350 NM_005454,AF090189,AL390732,CH471071,BC069371,BC069405,BC069491,BC069503,BC103976,BC103977,BU071333,CD652441,AF400435 NP_005445,AAD19879,CAH73850,EAW58691,AAK92484,AAH69371,AAH69405,AAH69491,AAH69503,AAI03977,AAI03978,O95813,Q3SY34,ADQ32905 Hs.248204 DAND4|MGC119894|MGC119895|MGC96951 DAN domain family member 4|cerberus|cerberus 1 homolog, cysteine knot superfamily (xenopus laevis)|cerberus-related 1|cerberus-related protein protein-coding 1312417 CERCAM cerebral endothelial cell adhesion molecule 1580863 10608765,12477932,10819331 51148 NM_016174,AL359091,CH471090,CQ782450,CQ782458,AB040935,AF177203,AF218016,AK074519,AK297929,AK307753,AK314294,BC011811,BC098432,BC108698,BC119698,BC119699,BC152421,BX358794,CA447908,AK074523,CX871555 NP_057258,CAI13494,CAI13495,CAI13496,EAW87787,EAW87788,EAW87789,EAW87790,CAF85736,CAF85744,BAA96026,AAD51367,AAG17258,BAC11036,BAC11040,BAG60246,AAH11811,AAH98432,AAI08699,AAI19699,AAI19700,Q5T4B2,Q9HBP2,CAX15138,CAX15139,CAX15140 Hs.495230 CEECAM1|GLT25D3|MGC149620|MGC149621 OTTHUMP00000022269|cerebral cell adhesion molecule|cerebral endothelial cell adhesion molecule 1|glycosyltransferase 25 domain containing 3|glycosyltransferase 25 family member 3 protein-coding 1312799 CERK ceramide kinase CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM] 1580863 11956206,10947957,18662741,18156590,17957442,17392267,17274985,16488390,16269826,16170208,16081073,15899891,15489334,15461802,14769792,12855693,12477932,11258795,10591208,9837889,18029348,19125296,19501188,19778898,20877624 64781 BC004278,BC008382,BC067255,BC108712,BC126940,BQ710170,BU187541,CR456404,CR457365,CR597559,CR609594,NM_022766,AL096766,AL118516,CH471138,AB051433,AB079066,AJ457828,AK025083,AK026892,AK291476,AL137600,AL832794 AAH04278,AAH67255,AAI08713,AAI26941,CAG30290,CAG33646,Q6I9Z0,Q6NX59,Q8TCT0,Q9H5N7,CAK54380,CAK54679,NP_073603,CAI18819,CAI17953,EAW73438,EAW73439,EAW73440,EAW73441,EAW73442,BAB33316,BAC01154,CAD29884,BAB15585,BAF84165 Hs.200668 DKFZp434E0211|FLJ21430|FLJ23239|KIAA1646|LK4|MGC131878|dA59H18.2|dA59H18.3|hCERK acylsphingosine kinase|ceramide kinase|lipid kinase 4|lipid kinase LK4 protein-coding 1346381 CERKL ceramide kinase-like Ceramide kinases convert the sphingolipid metabolite ceramide into ceramide-1-phosphate, both key mediators of cellular apoptosis and survival. Ceramide metabolism plays an essential role in the viability of neuronal cells, the membranes of which are particularly rich in sphingolipids (Tuson et al., 2004 [PubMed 14681825]).[supplied by OMIM] 1600829 20801516,19913121,20591486,20628086,20677014,19501188,19578027,20379614,19667359,19158957,18978954,18521091,18519826,18515597,18055789,16581028,15708351,14702039,14681825,12477932,11956206,9507394,8889548 1600829 375298 NG_021178,NM_201548,NM_001030312,NM_001030313,NM_001030311,NM_001160277,NR_027689,NR_027690,AC013733,AC020595,CH471058,AJ640141,AJ697855,AJ697856,AJ697858,AK129976,AK293844,AY357073,AY690329,AY690330,AY690331,AY690332,AY690333,BC137498,BC137499,BM969366 NP_963842,NP_001025483,NP_001025484,NP_001025482,NP_001153749,EAX10984,CAG26695,CAG26977,CAG26978,CAG26980,BAC85266,BAG57242,AAR13670,AAW47988,AAW47989,AAW47990,AAW47991,AAW47992,AAI37499,AAI37500,Q49MI3,Q5DVJ3 Hs.715753 RP26 ceramide kinase-like protein protein-coding 1352960 CES1 carboxylesterase 1 (monocyte/macrophage serine esterase 1) Carboxylesterase 1 is a member of a large multigene family. The enzymes encoded by these genes are responsible for the hydrolysis of ester- and amide-bond-containing drugs such as cocaine and heroin. They also hydrolize long-chain fatty acid esters and thioesters. This enzyme is known to hydrolyze aromatic and aliphatic esters and is necessary for cellular cholesterol esterification. It may also play a role in detoxification in the lung and/or protection of the central nervous system from ester or amide compounds. Carboxylesterase deficiency may be associated with non-Hodgkin lymphoma or B-cell lymphocytic leukemia. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 1580863 17264798,18599737,19225040,19487248,19508181,19658107,19715681,19733552,19932971,20195289,20422440,8218228,1918003,19343046,19332024,19185566,18983829,18794728,18485328,18328811,18305377,17764701,17537833,16971496,16962139,16419644,16344560,16282638,15931389,15489334,15475733,15475243,15188402,12960109,12773168,12725862,12721789,12679808,12477932,12022871,11950776,11812220,11409902,11015575,10562416,10518925,10452915,9003459,8406473,8049197,2612723,2070086,1997784,1748313,9311626,20975297,20649590,20931200,16712791,20529763,20530478 1066 M65261,M73499,S73751,X52973,NM_001025194,NM_001266,NG_012057,AB119997,AB119998,AB187224,AB210087,AB210088,AB210089,AB210090,AC147362,AY033590,CH471092,D21088,X96751,AB025026,AB119995,AB119996,AF177775,AK290623,AK292209,AK301651,AU139632,AY268104,BC009706,BC012418,BC110338,CB137639,L07764,L07765,M55509,NM_001025195,AC020766 AAA35650,AAA83932,AAA35649,AAC60631,CAA37147,P23141,Q6LAP9,ABM82398,ABM85582,NP_001020366,NP_001020365,NP_001257,BAC87750,BAC87751,BAE48735,BAE48737,BAE48738,BAE48739,BAE48740,EAW82838,EAW82839,EAW82840,BAA04650,CAA65527,BAA84995,BAC87748,BAC87749,AAD53175,BAF83312,BAF84898,BAH13531,AAP20868,AAH12418,AAI10339,AAA16036,AAA35711 Hs.558865 ACAT|CEH|CES2|HMSE|HMSE1|MGC117365|PCE-1|SES1|TGH REH|acyl coenzyme A:cholesterol acyltransferase|acyl-coenzyme A:cholesterol acyltransferase|brain carboxylesterase hBr1|carboxylesterase 1 (monocyte/macrophage serine esterase 1)|carboxylesterase 2 (liver)|cholesteryl ester hydrolase|cocaine carboxylesterase|egasyn|human monocyte/macrophage serine esterase 1|liver carboxylesterase 1|monocyte/macrophage serine esterase|retinyl ester hydrolase|serine esterase 1|triacylglycerol hydrolase protein-coding 736535 CES2 carboxylesterase 2 (intestine, liver) Carboxylesterase 2 is a member of a large multigene family. The enzymes encoded by these genes are responsible for the hydrolysis of ester- and amide-bond-containing drugs such as cocaine and heroin. They also hydrolize long-chain fatty acid esters and thioesters. The specific function of this enzyme has not yet been determined; however, it is speculated that carboxylesterases may play a role in lipid metabolism and/or the blood-brain barrier system. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 9169443,9144407,19349540,19343046,19274604,18983829,18797458,18794728,18473752,18305377,18259949,17764701,17640957,17537833,17483951,16963839,16690525,16381901,16344560,15967118,15618752,15592324,15489336,15489334,15475733,15475243,14702039,12960109,12835618,12721789,12477932,11230166,11076863,10452915,9373149,8125298,20649590,20931200,12417987,19225040,19508181,19856659,19956635,20195289,20237496,20379614,20422440,19913121,20529763,20628086 8824 NM_003869,NM_198061,AC009084,AY851164,CH471092,AI601196,AK095522,AK222724,AK290482,AL713761,AU137474,BC032095,BC071874,BC098417,BX538086,D50579,U60553,Y09616,NR_036684 NP_003860,NP_932327,AAW29943,EAW83057,EAW83058,EAW83059,BAD96444,BAF83171,CAD28531,AAH32095,AAH71874,AAH98417,CAD98009,BAA23606,AAB03611,CAA70831,O00748,Q4G0E9,Q53H57,Q6IPK9,CAL37659,ABM83948,ABM87755 Hs.282975 CE-2|CES2A1|PCE-2|iCE carboxylesterase 2|carboxylesterase 2 (intestine, liver)|hCE-2|intestinal carboxylesterase; liver carboxylesterase-2 protein-coding 735260 CES3 carboxylesterase 3 Carboxylesterase 3 is a member of a large multigene family. The enzymes encoded by these genes are responsible for the hydrolysis of ester- and amide-bond-containing drugs such as cocaine and heroin. They also hydrolize long-chain fatty acid esters and thioesters. The specific function of this enzyme has not yet been determined; however, it is speculated that carboxylesterases may play a role in lipid metabolism and/or the blood-brain barrier system. [provided by RefSeq] 20529763,20931200,15188402,18794728,15100172,14702039,14581373,12975309,12477932,11181995,7916639,16344560,19508181,20422440 23491 NM_024922,AC009084,CH471092,EU595874,AK000105,AK025158,AK025171,AK025389,AK097538,AY358609,BC053670,CR618303,DA924627,NM_001185176,NM_001185177 NP_079198,EAW83060,ACD11491,BAB15123,BAC05093,AAQ88972,AAH53670,Q6UWW8,Q8N7Y3,Q9H6X7,EAW83062,NP_001172105,NP_001172106 Hs.268700 ES31|FLJ21736 OTTHUMP00000174823|carboxylesterase 3|carboxylesterase 3 (brain)|esterase 31|liver carboxylesterase 31 homolog protein-coding 1344824 CES4 carboxylesterase 4-like 1580863 20931200,10452915,12477932,17264798,18794728,20195289 51716 NR_003276,AC136621,AC147362,CH471092,AF106005,BC131699,AB187225,AC020766 EAW82836,EAW82837,AAF14185,BAE48736 Hs.721645 CES1A2|CES1A3|CES4|CESR|PCE-3 pseudo 4144956 CES5AP1 carboxylesterase 5A pseudogene 1 649264 AP000343,AP000344,CH471095,XM_001131286,XM_001726012,XM_938326,BX280446 EAW59573,XP_001131286,XP_001726064,XP_943419 Hs.600549 carboxylesterase 5A pseudogene 1 pseudo 1606422 CES7 carboxylesterase 7 20931200,16344560,14702039,12477932,12401131,19727319,20161041,20379614,20422440 221223 NM_145024,NM_001143685,AC147362,CH471092,AK056109,AK090997,AY907669,BC039073,BC069501,BC069548,BC117126,BC143692,DA698987,AC007335,AK294334,NM_001190158,AC020766 AAX86044,NP_659461,NP_001137157,EAW82841,EAW82842,EAW82843,EAW82844,BAB71094,BAC03565,AAH69501,AAH69548,AAI17127,AAI43693,Q6NT32,BAH11738,NP_001177087 Hs.350800 CAUXIN|CES4C1|CES5|CES7|FLJ31547 carboxylesterase 5|carboxylesterase 7|carboxylesterase-like urinary excreted protein homolog protein-coding 1602823 CES8 carboxylesterase 8 (putative) 20161041,20422440,20931200,17364878,14702039,12975309,12477932 283848 CD369737,CR605934,AA846813,AK094321,DC306014,DC339496,NM_001190201,NM_001190202,NM_173815,AC009084,CH471092,AK094783,AK293061,AK295483,AK296064,AK300792,BC029039,BC041823,BC064573,BC084555,BI914453 NP_001177130,NP_001177131,NP_776176,EAW83065,BAC04422,BAF85750,BAH12085,BAH12248,BAH13349,AAH64573,AAH84555,Q5XG92,Q6P2E5,AAI66638 Hs.346947 CES6|CES8|FLJ37002|FLJ37464 carboxylesterase 6|carboxylesterase 8|carboxylesterase 8 (putative) protein-coding 1344937 CETN1 centrin, EF-hand protein, 1 The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This encoded protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq] 1580863 19615732,8175926,16760425,16246726,15489334,12477932,11279195,10725219,16101678 1068 NM_004066,AP001178,CH471113,AK312047,BC029515,CR590315,CR601265,U03270,HC006882,HC044503 NP_004057,EAX01727,BAG34983,AAH29515,AAC27343,Q12798,ABM81896,ABM85070,CBH19246,CBH30581 Hs.122511 CEN1|CETN EF-hand protein|calcium binding protein|caltractin|centrin-1 protein-coding 736112 CETN2 centrin, EF-hand protein, 2 Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq] 1580863 20586543,11076968,12221128,12852856,16462731,19615732,19706679,19857500,20508983,7790358,8248209,16760425,12176356,11256614,19179680,18177054,18172010,17897675,17603931,17081983,16820684,16627479,16533048,16464125,16411764,16381901,15964821,15489336,15489334,15356003,14504268,12890685,12802058,12578356,12477932,11279143,11076863,10854409,10788612,9665797,8597638,7713520,14767062,16101678 1069 NM_004344,AY919675,CH471172,AK311940,BC005334,BC013873,BT007256,CR593366,CR605856,X72964 NP_004335,AAW82436,EAW72900,BAG34881,AAH05334,AAH13873,AAP35920,CAA51467,P41208,CAL37917 Hs.82794 CALT|CEN2 caltractin (20kD calcium-binding protein)|centrin 2|centrin-2 protein-coding 733085 CETN3 centrin, EF-hand protein, 3 (CDC31 homolog, yeast) The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. [provided by RefSeq] 1580863 19615732,19734900,20508983,20098747,9256449,16169070,15654740,15489334,14731449,14711432,12477932,11279195,10725219,9843852,9004043,8798410,16101678 1070 NM_004365,AC093510,CH471084,BC005383,BC093793,BC112040,BT006688,BU633961,CB988525,CB998764,CR450346,Y12473 NP_004356,EAW95977,AAH05383,AAH93793,AAI12041,AAP35334,CAG29342,CAA73077,O15182,Q6ICP7 Hs.591767 CEN3|MGC12502|MGC138245 CDC31 yeast homolog|EF-hand superfamily member|centrin, EF-hand protein, 3 (CDC31 homolog, yeast)|centrin-3 protein-coding 3302259 CETN4P centrin EF-hand protein 4, pseudogene Centrins are members of the calcium-binding EF-hand protein superfamily and accumulate in centrosomes. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq] 20210993,17089211,18085818 729338 AC053545,AV733354,NR_024041 Hs.647968 pseudo 1345977 CETP cholesteryl ester transfer protein, plasma Cholesteryl ester transfer protein (CETP) transfers cholesteryl esters between lipoproteins. CETP may effect susceptibility to atherosclerosis. [provided by RefSeq] 1580358,1580359,1600654,1580863 11398140,11369008,11359462,11341749,11322655,11284423,11096142,11056092,10391209,9712344,9374130,9332354,9305883,8943225,8494888,8408659,8132678,7989465,3818596,3600759,3446583,2390095,2334701,2215607,1999438,20494359,20691829,20714348,20717043,20822508,20835684,20838585,20855565,21039385,21062971,20536507,20565774,20578904,20581105,20602615,20628086,20634891,20673868,20679960,20694148,20799898,18560005,18549840,18518852,18513389,18509195,18503096,18494281,18454345,18454146,18393253,18369235,18354102,18289550,18287799,18279878,18275964,18243217,18239576,18221399,18193044,18193043,18187430,18178167,18164013,18064308,18063597,18056760,18036514,18034366,18033754,17991755,17991668,17970962,17949364,17931083,17855807,17852818,17848121,17785925,17767699,17709636,17700364,17666459,17658505,17615573,17588582,17587768,17587762,17568951,17568242,17555738,17531380,17522050,17519358,17512363,17512305,17503098,17495597,17440012,17335774,17318300,17311515,17310124,17293475,17287950,17275808,17272756,17237796,17196207,17190939,17160943,17157861,17108362,17097007,17055779,17053273,16986521,16946130,2833496,2586614,3104518,19428034,19420105,19403283,19364639,19360375,19359809,19341173,19336370,19299407,19285487,19282863,19273719,19263529,19260141,19242900,19217440,19191759,19184337,19168039,19165812,19155782,19148283,19140312,19131662,19131637,19099922,19086575,19060911,19060910,19060906,19056482,19056069,19038848,19038839,19018779,18996102,18957472,18956684,18851690,18849221,18841571,18835593,18823627,18804459,18787507,18728123,18680734,18676680,18669886,18667902,18665040,18660489,18637884,18636124,18622260,18562803,16890925,12669678,12663600,12639975,12601526,12588754,12579494,12544508,12519369,12519368,12518020,12514935,12499392,12482565,12477932,12446192,12409629,12401886,12174215,12164095,12117730,12116231,12104085,12091484,12082592,12070157,12055319,12048136,12037734,12033532,12019635,11996962,11956670,11952809,11915346,11903340,11888533,11888509,11887180,11882335,11872695,11810297,11804197,11730826,11714857,11689220,11575217,11533368,11454014,16855190,16837242,16829344,16822236,16797310,16770077,16763159,16684835,16674961,16623947,16563399,16553359,16544732,16542392,16522905,16430904,16426594,16420563,16384616,16343038,16335952,16332659,16306375,16306202,16248996,16205020,16189514,16159884,16141008,16123327,16098387,16096813,16086925,16049032,16039291,16038892,16030523,16005462,16002074,15996208,15992403,15979432,15955471,15952120,15939053,15896905,15888337,15882786,15864114,15859394,15856070,15840744,15811250,15766738,15696473,15655129,15608561,15589073,15585206,15489334,15450208,15382463,15377415,15339254,15256516,15228446,15138631,15102891,15099350,15098490,15085362,15076187,15053158,15039125,15036597,14998629,14967821,14732872,14687732,14679166,14669156,14660992,14583798,14563342,14559957,14531818,12966036,12951364,12919138,12907677,12871320,12840632,12820950,12818414,12818401,12798569,12791674,12773093,12771549,12771320,12730302,12700892,20686565,16169070,16326978,16670775,17463246,18468607,18926541,19147676,19170196,19193611,19200546,19282272,19345354,19417222,19424605,19444232,19463799,19471550,19479237,19489872,19491422,19558216,19558660,19564641,19578796,19625176,19641010,19642912,19679263,19689828,19691831,19692168,19728844,19729601,19733717,19764573,19773416,19784962,19810818,19815603,19822408,19850020,19878569,19913121,19926784,19948972,19948975,19956635,19956911,20006332,20026784,20031538,20031551,20031564,20031591,20059631,20065167,20066028,20068209,20082485,20160193,20167577,20195290,20200605,20228163,20370913,20385819,20385826,20394740,20398902,20400780,20403997,20413122,20413969,20421239,20430392,20452482,20458649,20489166,20511482,7583561,20138746,20864672,20431066 1580358,1580359,1600654 1071 NM_000078,NG_008952,AC012181,AC023825,AF027656,AY008270,AY172980,AY422211,CH471092,M32998,U71187,AA999853,AK291586,AK297699,BC025739,BT020064,CR599646,CR622658,M30185,M83573 NP_000069,AAB86604,AAG21822,AAO12735,AAR03500,EAW82896,EAW82897,AAA51978,AAD14876,BAF84275,BAG60057,AAH25739,AAV38867,AAA51977,AAB59388,P11597,Q5TZS4,Q8IWL9,Q9H4L8,ABW03330 Hs.89538 HDLCQ10 cholesteryl ester transfer protein|lipid transfer protein I protein-coding 1350557 CFB complement factor B This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq] 2311335,2311338,1580863 19117936,19279234,19423540,19556007,19574954,19603351,19661236,19696172,19825847,19833879,19834535,19838195,19851445,19899988,20007824,20106822,20108004,20109314,20157618,20193965,20205591,20378180,20385819,20406964,20438785,20466734,20513133,21205667,17916747,17767156,17576744,17395591,17359931,17310251,16518403,16335952,16301317,16061287,15648851,15489334,14656967,14574404,12477932,11803045,11367533,11341920,10861231,10637221,10610782,10072631,10072540,9373149,8648130,8247029,8181962,8125298,6957884,6546754,6342610,6323161,6308626,11367526,162484,8225386,279011,3052276,15199963,19399715,19344414,19336475,19277984,19259132,19255449,19187590,19169232,19167759,19143814,19015224,19005416,19001225,19000152,18987644,18936151,18928972,18806297,18806293,18515590,18502988,18493315,18325906,18096230,18039777,17921140,6149579,3643061,3315100,3140783,2249879,2006911,1545147,1445220,889587,20385826,20523265,20861866,19913121,20587610,20628086,20575108,20801516,20848568,20888482 2311335,2311338 629 CR388180,CR933857,NM_001710,NG_000013,NG_004658,NG_005163,NG_008191,AF019413,AF551848,AL645922,AL662849,AL844853,BX005143,CH471081,CR388219,CR759782,M15082,AF349679,AK130533,AK223400,AL701961,BC004143,BC007990,BI258352,CD689714,CR590153,CR590439,DC368322,J00126,J00185,J00186,K01566,L15702,S67310,X00284,X72875 NP_001701,AAB67977,AAN71991,CAQ09274,CAI17456,CAI41860,CAM25864,EAX03550,CAQ07483,CAQ07113,AAA59625,AAK30167,BAD97120,AAH04143,AAH07990,AAA36226,AAA36219,AAA36220,AAA36225,AAA16820,AAD13989,CAA25077,CAA51389,P00751,Q53F89,ABM83239,ABM86442 Hs.69771 AHUS4|BF|BFD|CFAB|FB|FBI12|GBG|H2-Bf|PBF2 B-factor, properdin|C3 proaccelerator|C3 proactivator|C3/C5 convertase|b-factor, properdin|complement factor B|glycine-rich beta glycoprotein|glycine-rich beta-glycoprotein|properdin factor B protein-coding 1353993 CFC1 cripto, FRL-1, cryptic family 1 This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family. EGF-CFC family member proteins share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. These proteins play key roles in intercellular signaling pathways during vertebrate embryogenesis. Mutations in this gene can cause autosomal visceral heterotaxy. This protein is involved in left-right asymmetric morphogenesis during organ development. [provided by RefSeq] 1580863 20634891,11062482,18930707,18162845,17445335,17072672,15815621,15489334,15252450,12477932,11799476,10858660,19853937 55997 NM_032545,NG_008148,AC140481,AF312925,AF312769,AK290094,AK315326,BC069508,BC074825,BC074826,BC110080,BC146897,BG654700,BM509218,DQ786275 P0CG37,NP_115934,AAG42475,AAG30294,BAF82783,BAG37727,AAH69508,AAH74825,AAH74826,AAI10081,AAI46898 Hs.567542,Hs.595719 CFC1B|CRYPTIC|FLJ77897|HTX2|MGC133213 cryptic|cryptic family protein 1|cryptic protein protein-coding 2289769 CFC1B cripto, FRL-1, cryptic family 1B 8889548 653275 NM_001079530,AC013269,AX277836,BM716751,BQ777283,BU784123 P0CG36,NP_001072998,AAY14955,CAD10661 Hs.503733 cripto, FRL-1, cryptic family 1B|cryptic family protein 1B protein-coding 736531 CFD complement factor D (adipsin) The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a component of the alternative complement pathway best known for its role in humoral suppression of infectious agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system biology. [provided by RefSeq] 1624328,1624324,1624327,1624344,1580863 19538214,21205667,1374388,162484,6459901,19344414,19336475,12477932,12080056,10971122,9145127,8289289,7592653,6987665,6821372,6776531,6383466,6363133,824769,19913121,20628086,16169070,19699327,2023254 1624328,1624324,1624327,1624344 1675 NG_007274,AC112706,CH471139,AJ313463,AK300963,BC034529,BC040146,BC051001,BC057807,BG573629,BI763909,CR536575,DQ884409,NM_001928,M84526 NP_001919,EAW69588,CAC48304,BAG62588,AAH34529,AAH40146,AAH51001,AAH57807,CAG38812,ABI63376,AAA35527,P00746,Q6FHW3 Hs.155597 ADIPSIN|ADN|DF|PFD C3 convertase activator|D component of complement (adipsin)|complement factor D|complement factor D preproprotein|properdin factor D protein-coding 1346060 CFDP1 craniofacial development protein 1 1580863 19844255,16189514,15489334,15231748,12477932,11992732,11831036,10415329,10350657,9602175,9373149,9006920,8125298 10428 NM_006324,AB004907,AB009269,AB009270,AC009054,AC009163,CH471114,AB009285,AK226031,AK313948,AW160432,BC000991,BT009819,CR542111,CR622718,CR623318,CR626586,D85939,D86549 NP_006315,BAA31860,BAA31864,BAA31865,EAW95647,EAW95648,EAW95649,BAA31867,BAG36666,AAH00991,AAP88821,CAG46908,BAA20069,BAA20070,Q9UEE9,ABM81924,ABW03375 Hs.461361 BCNT|BUCENTAUR|CP27|SWC5|Yeti|p97 craniofacial development protein 1|phosphoprotein (Bucentaur) protein-coding 1353869 CFH complement factor H This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short concensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1599886,1599888,1580863 19913121,20574013,20576771,20588308,20595690,20605213,20606025,20622116,20626361,20628086,20664795,20678803,20688737,20694013,20708732,20385826,9312129,19541934,19508377,19428307,19399715,19351878,19344414,19336475,19336370,19308255,19299737,19242507,19204088,19202148,19197355,19187823,19187590,19169232,19169230,19168221,19166692,19162324,19144569,19124749,19112495,19098018,19092117,19091853,19076828,19074778,19050261,19048105,19047406,19019939,19454698,19029036,19005013,19003634,19001225,19000922,18996904,18979363,18976665,18939352,18936151,18855541,18852870,18824548,18787502,18786923,18784628,18766990,18762075,18718667,18704199,18682812,18682806,18676680,18658028,18627285,18604638,18596911,18566420,18541031,18538409,18515590,18502988,18493315,18461138,18452766,18436811,18433936,18423869,18422436,18421087,18413232,18406463,18378209,18362109,18340363,18336910,18325906,18316707,18292785,18292760,18292569,18268093,18263814,18248681,18235085,18235016,18223247,18211923,18203751,18183578,18164066,18163432,18162041,18161619,18093091,18067970,18054635,18050121,18039838,18006700,18005991,17999207,17995985,17973958,17962488,17915330,17877809,17869048,17846371,17846368,17767156,17724217,17699195,17697822,17679948,17631852,17599974,17591866,17591627,17591618,17580967,17562771,17558024,17483111,17472578,17464302,17456821,17442969,17438673,17438519,17426452,17399790,17398321,17396242,17362990,17360715,17352366,17339482,17314151,17306880,17293598,17285240,17266113,17241667,17229916,17210858,17210852,17210851,17208302,17198853,17167412,17157600,17151483,17137217,17132743,17079491,17076561,17056561,17022693,17003406,17000705,16954704,16936733,16936732,16936129,16936080,16909242,16889549,16885922,16877387,16865697,16849663,16828512,16816528,16787919,16785547,16774956,16754848,16751403,16730735,16723442,16710702,16710414,16642439,16630992,16621965,16541016,16533809,16528247,16519819,16470555,16431947,16386793,16379025,16341674,16335952,16310045,16300415,16299065,16267773,16263173,16229850,16192651,16174643,15895326,15870199,15784724,15761122,15761121,15761120,15754282,15749837,15634279,15557185,15489334,15342556,15331938,15163532,14974950,14760718,14702039,14638802,14583443,12960213,12630812,12477932,12471127,12424708,12391176,12020532,11921353,11851332,11825898,11644971,11367533,11170896,11170895,11158219,11116141,10803850,10781834,10762557,10577907,10490997,10380701,10377245,9988761,9558116,9551389,9373149,9291131,8663389,8331663,8125298,6215918,3782802,2977721,2968949,2968404,2963625,2952588,2946589,2937845,2889480,2529127,2527799,2445583,1829116,1828229,1826708,1826264,1533152,1401896,7535292,7893437,7590866,7492444,7576914,17959597,16905558,20660596,20855886,20394361,20504767,20581873,19009024,19015224,19117936,19170196,19259132,19503104,19505474,19505476,19531976,19540598,19549636,19567623,19568762,19625176,19646183,19680263,19680273,19692124,19692168,19703145,19704120,19796758,19797206,19822851,19822855,19823576,19825847,19833879,19835885,19845562,19850343,19850835,19850925,19861685,19878322,19899988,19948975,19951950,20007824,20008295,20038862,20042647,20042653,20059470,20106822,20132989,20157618,20161521,20181037,20237496,20238042,20299368,20304497,20346514,20351616,20378178,20378180,20381870,20385819,20513133,20523265,20538655,20513355,20580090,19306911,20534299,20730046,20823202,20736788,20801516,20841369,20861866,20881291,20888482 1599886,1599888 3075 Y00716,NM_000186,NM_001014975,NG_007259,AL049744,CH471067,DQ233256,U56979,Z29665,AI568119,AK124051,AK225649,AK226113,AK291395,BC012610,BC037285,BC073982,BC110643,BC142699,BM842566,BP324193,CR598844,CR601432,CR616715,M12383,M17517,M65294,X04697,X07523 CAA68704,P08603,Q14006,Q5TFM2,NP_000177,NP_001014975,CAI19672,CAI19673,EAW91260,EAW91261,ABB02180,AAB01987,CAA82763,BAF84084,AAH37285,AAI10644,AAI42700,AAA52013,AAA52016,AAA35948,CAB41739,CAA30403 Hs.363396 AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS|MGC88246 H factor 1 (complement)|H factor 2 (complement)|OTTHUMP00000034106|adrenomedullin binding protein|age-related maculopathy susceptibility 1|beta-1-H-globulin|beta-1H|complement factor H|complement factor H, isoform b|factor H|factor H-like 1 protein-coding 1344198 CFHL1P complement factor H-related 1 pseudogene 1711047 3079 X56210 1346225 CFHR1 complement factor H-related 1 1580863 19913121,20628086,19435718,19531976,19745068,19861685,20008295,20059470,20237496,19553609,19344414,19308255,18824548,18084039,18039838,18006700,17538892,17438673,17367211,16998489,16710414,16335952,16239506,15557185,15489334,12477932,10781834,10408366,10380701,8663389,8172644,1826708,1825108,1711047,20855886,20581873 3078 NG_013060,NM_002113,NG_005811,AL049741,AI075816,AK290830,BC016755,BC107771,BG568702,M65292,M65293,X56209,X56210,HC920155 NP_002104,CAB53063,CAI19622,BAF83519,AAH16755,AAI07772,AAA35946,AAA35947,CAA39666,CAA39667,Q03591,Q6LBM9,ABM83688,ABM86991,CBN73473 Hs.575869 CFHL|CFHL1|CFHL1P|CFHR1P|FHR1|H36-1|H36-2|HFL1|HFL2|MGC104329 FHR-1|H factor (complement)-like 1|H factor (complement)-like 2|H-factor-like 1|H36|complement factor H-related 1 pseudogene|complement factor H-related protein 1|h factor-like protein 1 protein-coding 1606035 CFHR2 complement factor H-related 2 20059470,20237496,18541031,17438673,16710414,15489334,12477932,10380701,8172644,7672821,1711047,1533657 3080 NM_005666,AL139418,CH471067,X86564,X86565,X86566,X86567,BC022283,BG566607,X64877,HC920157 NP_005657,CAI21979,EAW91267,CAA60375,AAH22283,CAA46096,P36980,ABM82331,ABM85508,CBN73474 Hs.632450 CFHL2|FHR2|HFL3 DDESK59|FHR-2|H factor (complement)-like 3|complement factor H-related protein 2|factor H-related gene 2|h factor-like 3|h factor-like protein 2 protein-coding 1342616 CFHR3 complement factor H-related 3 1580863 20592223,20694013,16710414,15489334,12477932,10781834,10622723,10380701,8172644,16998489,8428964,19553609,18084039,18006700,17438673,17367211,20581873,19531976,19861685,20059470,20237496,17207965 10878 HC920159,NM_021023,NG_005811,AL049741,CH471067,AK298459,BC020687,BC058009,BC070259,BG618529,X68679,BC020680,NG_015993,NM_001166624 CBN73475,NP_066303,CAB53064,CAI19621,EAW91262,EAW91263,EAW91264,BAG60672,AAH20687,AAH58009,AAH70259,CAA48639,Q02985,Q6NSD3,Q8WW96,NP_001160096,ADQ32035 Hs.709217,Hs.575869 CFHL3|DOWN16|FHR-3|FHR3|HLF4 H factor-like 4|H factor-like protein 3|complement factor H-related protein 3 protein-coding 1351940 CFHR4 complement factor H-related 4 1580863 9038172,19084272,18541031,17438673,15562282,15489334,12477932,10622723,10380701,9476126,19861685,20042240,20059470,20181037,20237496 10877 HC920161,NG_005811,AF190816,AL049741,AL139418,BX248415,CH471067,AJ640130,AK292752,BC074957,X98337,NM_006684,NM_001201550,NM_001201551 CBN73476,NP_006675,AAF05951,CAI21980,CAI21981,CAH70074,CAH70075,EAW91265,EAW91266,CAG26679,BAF85441,AAH74957,CAA66980,Q5DVJ7,Q92496,NP_001188479,NP_001188480 Hs.710100 CFHL4|FHR-4|FHR4|RP4-608O15.2 OTTHUMP00000034809|complement factor H related 4|complement factor H-related protein 4|factor H-related gene 4 protein-coding 1349013 CFHR5 complement factor H-related 5 1580863 11058592,19365580,19344414,18541031,17438673,17000000,16344560,16299065,15879123,15489334,12477932,12041828,11774097,11414752,20059470,20237496,20513133,20800271 81494 NM_030787,AL139418,AL353809,CH471067,AF295327,AK314026,BC026282,BC111773,BG568555,DA638244,HC920163,NG_016365 NP_110414,CAH72548,EAW91268,AAK15619,BAG36736,AAH26282,AAI11774,Q05CF5,Q5VYL6,Q9BXR6,CBN73477,CAI21982 Hs.282594 CFHL5|FHR-5|FHR5|FLJ10549|MGC133240 complement factor H-related protein 5|factor H-related protein 5 protein-coding 736809 CFI complement factor I This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene. [provided by RefSeq] 1580863 20888482,2956252,8604219,19423168,19065647,18825487,18805611,18701018,18685559,18658028,18566438,18544012,18374984,18029348,17599974,17597211,17548110,17482181,17320177,17106690,17067565,17055788,17018561,16920989,16621965,16386793,16335952,15835912,15342556,15210795,15173250,14967308,14761935,14760718,14702039,12477932,9605165,9479036,9291131,8613545,7672128,2954545,2563353,1401896,8648130,19661236,19693526,19861685,19877009,20016463,20044478,20059470,20087399,20106822,20332099,20379614,20385819,20513133,20385826 3426 NM_000204,NG_007569,AC126283,AF005095,CH471057,AK122686,AK290625,AK299232,BC005275,BC020718,BM955734,BP235907,CR618232,DC392360,J02770,N63668,Y00318 NP_000195,AAC08733,EAX06250,EAX06251,EAX06252,BAF83314,BAG61264,AAH20718,AAA52455,CAA68416,CAA68417,CAA68418,P05156,Q6LAM0,Q6LAM1,Q8WW88 Hs.312485 AHUS3|C3BINA|C3b-INA|FI|IF|KAF C3B/C4B inactivator|C3b-inactivator|Konglutinogen-activating factor|OTTHUMP00000219728|complement component I|complement control protein factor I|complement factor I|complement factor I heavy chain|light chain of factor I protein-coding 732970 CFL1 cofilin 1 (non-muscle) Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM] 1580863 19997845,20729910,20095995,20564088,20472933,20471030,8195165,8037689,7552146,2263493,16526095,12963706,16169070,14607843,17196218,17088134,17081983,16964243,16916647,16456544,16396496,16301112,16189514,16061204,15952740,15816841,15719172,15671020,15660133,15647284,15598710,15592455,15489334,15485906,15213453,15159416,14733918,14718574,14702039,14634665,14627701,12904289,12837278,12791392,12684437,12665801,12477932,12359716,12323073,12207032,12049672,11950878,11925442,11832213,11812157,11747431,11707283,11418599,11340065,11294912,11139403,11090694,10613909,10366597,9655398,8892894,8889548,8824278,8806458,8800436,8482351,12361576,16713569,17353931,10436159,16130169,19223396,19110265,19000834,18987670,18952063,18937355,18809681,18775311,18716285,18096821,17583572,17352815,16548883,19339277,19403692,19483084,19546591,19556892,19567672,19654210,19683683,19734890,19802004,20133759,20381070,20676060,20819441,20713416,20029029 1072 NM_005507,AP001266,CH471076,AK097690,BC011005,BC012265,BC012318,BC018256,BC024975,CB850882,CR598078,CR598143,CR601037,CR604205,CR604338,CR607341,CR614698,CR615502,CR617396,CR620775,CR620871,CR621841,CR622534,CR622701,CR622749,CR623837,CR624160,CR625024,CR625803,D00682,U21909,X95404,BT006846 NP_005498,EAW74448,EAW74449,EAW74450,EAW74451,EAW74452,BAG53513,AAH11005,AAH12265,AAH12318,AAH18256,AAP35492,BAA00589,AAA64501,CAA64685,P23528,ABM82695,ABW03425 Hs.170622 CFL 18 kDa phosphoprotein|cofilin 1|cofilin, non-muscle isoform|cofilin-1|p18 protein-coding 1315906 CFL2 cofilin 2 (muscle) This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 19752190,20347121,18928553,17160903,17081983,16530787,16344560,15951569,15489334,12684437,12477932,12049672,11827452,11809832,11422377,10461190,9655398,8889549,8824278,8800436,16526095,16189514,20801873 1073 NM_138638,NM_021914,NR_028130,NR_028131,NR_028132,NG_012740,AF242299,AF283513,AL355885,CH471078,AF087867,AF134802,AF134803,AI754134,AK314157,AL117457,BC011444,BC022364,BC022876,BC025683,CB992605,CR600914,CR605888,CR620328,DA298739,DA897112,DB378917 NP_619579,NP_068733,AAF64498,AAF97934,EAW65908,EAW65910,EAW65911,EAW65912,AAM10495,AAD31280,AAD31281,BAG36842,AAH11444,AAH22364,AAH22876,Q549N0,Q9Y281,ACE87733,ACE87051 Hs.180141 NEM7 cofilin, muscle isoform|cofilin-2 protein-coding 1347509 CFLAR CASP8 and FADD-like apoptosis regulator 1580863,4143170,4143196,4143171 19949310,11741985,9217161,9208847,12761501,19433309,19339247,19321593,19282655,19249545,19243385,19223508,19203346,19177145,19161534,19115040,19109151,19090833,18840411,18838202,18823309,18820704,18767116,17272514,17106251,17070520,17056549,17003335,16901543,16740746,16720717,16611896,16472594,16441226,16436054,16403915,16304056,16298825,16247474,16211288,16077198,16052516,16052233,16014121,15956881,15917295,15899875,15886205,15864316,15843523,15832422,15815586,15761846,15760909,15731171,15722350,15701651,15701649,15686714,15653751,15644494,15557152,15540114,15489334,15485835,15459191,15354734,18726983,18603835,18593367,18509086,18414015,18398344,18391984,18339897,18314443,18264131,18257744,18243739,18189268,18084329,18073330,17988665,17982483,17932249,17922291,17912957,17762208,17726263,17697742,17659339,17646662,17638906,17581950,17573774,17559541,17513603,17450141,17440816,17376892,12477972,12477932,12432255,12407100,12393527,12215447,12115181,12097160,12060768,12031968,11965497,11940602,11877293,11830587,11193041,11161814,11002417,10837247,10227994,10200473,10069390,9990034,9880531,9575181,9380701,9326610,9325248,9289491,9228018,9219695,9211860,18559494,9560245,10329646,12887920,17353931,12220669,16712791,20372864,20218968,15334061,15304499,15297424,15273717,15258564,15183989,15096587,15078899,15024054,14759258,14662022,14637155,14578361,14562111,13679070,12820373,12746452,12716387,12592338,12574377,12556488,12552004,12496482,12496481,12496285,20568250,20802294,21048031,20975036,20224598,19798106,19816511,20335528,16246840,16537561,19913121,20595005,20628086,20628624,20689807,20696707,17110930,17159907,18202225,19343040,19363595,19372246,19398149,19409438,19439735,19476635,19543235,19573080,19604093,19710364,19728335,19734124,19773279,19802016,19890350,19896469,19906927,19956887,20016063,20087343,20227749,20449949,20453000 4143170,4143196,4143171 8837 Y14039,Y14040,NM_001127184,NM_003879,NM_001127183,AB038972,AC007283,CH471063,AB209600,AF005774,AF005775,AF009616,AF009617,AF009618,AF009619,AF010127,AF015450,AF015451,AF015452,AF041458,AF041459,AF041460,AF041461,AF041462,AK289913,AK296036,AK297387,AK304585,AK308767,AK315208,AK315924,BC001602,BT006751,BX457155,CB148618,CR615942,CR619610,DC321068,U85059,U97074,U97075 CAA74366,CAA74367,O15519,Q59F61,ABM92209,ABM84686,AAC51623,NP_001120656,NP_003870,NP_001120655,BAB32551,BAB32552,AAY24290,EAW70235,EAW70236,EAW70237,EAW70238,EAW70239,EAW70240,EAW70241,EAW70242,EAW70243,EAW70244,EAW70245,BAD92837,AAC15825,AAC15826,AAB70909,AAB70910,AAB70911,AAB70912,AAB64110,AAC16439,AAC16440,AAC16441,AAB99790,AAB99791,AAB99792,AAB99793,AAB99794,BAF82602,BAG58802,BAG59828,BAG65373,BAG37645,BAH14295,AAH01602,AAP35397,AAB82648,AAC51622 Hs.390736 CASH|CASP8AP1|CLARP|Casper|FLAME|FLAME-1|FLAME1|FLIP|I-FLICE|MRIT|c-FLIP|c-FLIPL|c-FLIPR|c-FLIPS CASP8 and FADD-like apoptosis regulator|FADD-like anti-apoptotic molecule|FADD-like antiapoptotic molecule 1|MACH-related inducer of toxicity|OTTHUMP00000206475|OTTHUMP00000206482|OTTHUMP00000207360|caspase homolog|caspase-eight-related protein|caspase-like apoptosis regulatory protein|caspase-related inducer of apoptosis|cellular FLICE-like inhibitory protein|inhibitor of FLICE|usurpin beta protein-coding 1603578 CFLP1 cofilin pseudogene 1 12477932 142913 NR_028492,AC022016,BC031631 ABM82205,ABM85393 Hs.646123 MGC35136 pseudo 1349932 CFLP2 cofilin pseudogene 2 391039 NG_008615,AL162430 CFLL2 pseudo 1349136 CFLP3 cofilin pseudogene 3 100131874 NG_008819,AL161742 CFLL3 pseudo 1351791 CFLP4 cofilin pseudogene 4 645980 BX571673,NG_008824 CFLL4 pseudo 1344248 CFLP5 cofilin pseudogene 5 1074 NG_008755,AC145132,AC145145 CFLL1 pseudo 1344573 CFM1 cystic fibrosis modifier 1 8589719 10167 1353272 CFM2 cystic fibrosis modifier 2 23727 1348885 CFNS craniofrontonasal syndrome (craniofrontonasal dysplasia) 9302274 1351689 CFP complement factor properdin This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 8530058,19934084,19584655,20122735,162484,15199963,19204726,19005416,18791942,18753294,18579773,18490764,16344560,16337490,16335952,15772651,15489334,14702039,12493642,12477932,12096136,11513971,11090881,10909851,10878002,10861231,9710744,9127010,8871668,7151327,6900901,3421908,3140783,2570030,2009915,1783405,1431505,1417780,8630395,7911492,7893437,7590866,11733037,19913121,20628086,20530262 5199 NM_002621,NM_001145252,NG_009893,AF005664,AF005665,AF005666,AF005668,AL009172,AY297813,CH471164,X70872,AK122955,AK310695,BC015756,DB146591,M83652,X57748 NP_002612,NP_001138724,AAB63279,AAB63280,AAC51626,AAB62886,CAA15658,AAP43692,EAW59317,EAW59318,EAW59319,EAW59320,CAA50220,BAG53818,AAH15756,AAA36489,CAA40914,P27918,ABM84386,ABM87309 Hs.53155 BFD|PFC|PFD|PROPERDIN OTTHUMP00000216155|complement factor P|properdin|properdin P factor, complement protein-coding 619566 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq] 2307071,2314614,1599599,734772,1580863,1599596,1599598,2317156,2317157,4140482,4140442,4140430,4140422,4140475,4140453,4140473,4140481,4140450,4140431,4140457,4140464,4140465,4140389,4140448,4139905,4139907,4140445,4140484,4140392,4140395,4140428,4140433,4140439,4140440,4140441,4140390,4140401,4140468,4139910,4140387,4140394,4140393,4140397,4140446,4140447,4140436,4140438,4140429,4140435 20595578,19079680,17615287,17272866,14688350,8723693,14604981,12621035,7513695,15105504,12933354,1284466,8072542,7693108,7689062,7683954,7683628,7680525,7678008,7581407,7581390,7553864,7544319,7543567,7541510,7541313,7541273,7539342,7537150,7529962,7525450,7524913,7524910,7524909,7522211,7520022,7518437,7517264,7513296,7505694,7504969,2772657,2236053,2218515,1719769,1710600,1710599,1710598,1709163,1695717,1378801,1377674,1284534,1284530,1284529,1284468,8522333,8081395,20616615,20628052,20711182,14675537,20167933,20203293,20706124,20844248,20651848,20861014,20739289,20879059,20881360,20923678,20977904,21083385,20530751,20732993,20435887,20460375,20032308,20534503,20551465,20052766,20156845,20178459,20400957,20093721,20398666,2475911,10581360,11707463,15247260,9875854,19645745,19596328,19593166,19584075,19540513,19491865,19481256,19449463,19443567,19419994,19419506,19411311,19383231,19381710,19381016,19372188,19343046,19333236,19265749,19247692,19247502,19244346,19236881,19227414,19219329,19202204,19181743,19167254,19166122,19144995,19137597,19136563,19129223,19126627,19106752,19098309,19096130,19092444,18344710,18319256,18306312,18305154,18304008,18294702,18280771,18280224,18279436,18264947,18243066,18234567,18230779,18227622,18224335,18216283,18209474,18184109,18178635,18167357,18164141,18096515,18078202,18076731,18057956,18056267,18055505,18050608,18047834,18045644,18045536,17985657,17982258,17981921,17975025,17943404,17932045,17913891,17913705,17911111,17903301,17902144,17901983,17890437,17877132,17873061,17869070,17848139,17825628,17823699,17805562,17762174,17761461,17719933,17719926,17718859,17716958,17707141,17690208,17678620,17673436,17662673,17660831,17654517,17652219,17632788,17627383,19077469,19061877,19047750,19027279,19017867,18992954,18989824,18986377,18973672,18955805,18953248,18951463,18938114,18810634,18797695,18794359,18788470,18782298,18779379,18778819,18773956,18769035,18769034,18769032,18764821,18757309,18755906,18723516,18716059,18708637,18703788,18703181,18694937,18687795,18685642,18682497,18676185,18658148,18652532,18625144,18622306,18616886,18600482,18597042,18570918,18567645,18563405,18556774,18556464,18535191,18474670,18467194,18458236,18441018,18430055,18424453,18423665,18421494,18392808,18385167,18373402,18372427,18366345,18361776,18361452,18360295,18359885,18353929,18350634,17603939,17595519,17594397,17590432,17588945,17580535,17580311,17575549,17573513,17572159,17560176,17553491,17546509,17544945,17540036,17539902,17532368,17531547,17531517,17519339,17516627,17495464,17489851,17481968,17475917,17469153,17466952,17462998,17448246,17446304,17434346,17432547,17409124,17394391,17392477,17353351,17347778,17337503,17331079,17329263,17314234,17283574,17283089,17613530,16413502,16412743,16399952,16379540,16361259,16354855,16341382,16311240,16311077,16281647,16275171,16272798,16266832,16258369,16246032,16246030,16245306,16243854,16239222,16238926,16236828,16226002,16212675,16210354,16207846,16203733,16202788,16202781,16193325,16189704,16187186,16182665,16177360,16170155,16166089,16163053,16162662,16143588,16137181,16132229,16128988,16127463,15367919,15365999,15364959,15361357,15358638,15354332,15354331,15342786,15333598,15332739,15300780,15286085,15284228,15274098,15272010,15265695,15247233,15244104,15238770,15233679,15215316,15215312,15176679,15173476,15171831,15151509,15125256,15104594,15097853,15084988,15084222,15075371,15070876,15066992,15060073,15048129,15039462,15025720,15024729,15017334,15001557,14966131,14760158,14757935,14747162,14706455,14699484,14697202,14688470,16126774,16114821,16078047,16075239,16051530,16020494,16014420,16001079,15997883,15994263,15987793,15964894,15958523,15948196,15944206,15937068,15936019,15923638,15905293,15880249,15870673,15858154,15832355,15784035,15781764,15776432,15775704,15772171,15752682,15749233,15746174,15741992,15738290,15729345,15716351,15705621,15699697,15698946,15698945,17272822,17254580,17242497,17237149,17235394,17234733,17212919,17206681,17182731,17158866,17113596,17110338,17099022,17098864,17084917,17072959,17047984,17043152,17043148,17015704,17012229,17005267,17003641,17003560,17003555,16990428,16987954,16980811,16973827,16966475,16963320,16954950,16954204,16938751,16920886,16915933,16901789,16865856,16830219,16828872,16822950,16801189,16799633,16778595,16778407,16764792,16762324,16715841,16714368,16713399,16708396,16690975,16678503,16678395,16635477,16621797,16617247,16596947,16581722,16574992,16572913,16541275,16531569,16527813,16499810,16493442,16485779,16481891,16470247,16469739,16466905,16463140,16443646,16436643,16436375,16435054,16427927,16421216,15681482,15677769,15672947,15665983,15645646,15644056,15640323,15638824,15637983,15634668,15633186,15623556,15619636,15619635,15611333,15596536,15591474,15563584,15546864,15537723,15533383,15533353,15528182,15505732,15486385,15684701,15684079,15480987,15479737,15477385,15474513,15472711,15471937,15463907,15463906,15463893,15463854,15463840,15379964,15371909,15371908,15371907,15371903,15371258,9736778,9677412,9671706,9613608,9590693,9554753,9521595,9517543,9511929,9482579,9466991,9443874,9401006,9385646,9384384,9375855,9222768,9101301,9067761,8956039,8829633,8800923,8764323,8744024,8723695,9931011,9921909,12457238,12454843,12452372,12447862,12446681,12439892,12437773,12427743,12414835,12409506,12409301,12403779,12397014,12394343,12357328,12355171,12297838,12227654,12226741,12220181,12218938,12209004,12181169,12172395,12167682,12151438,12149408,12143267,12139895,12133923,12127423,12120234,12120233,12120220,12110684,12095312,12084728,12084577,12080183,12073281,12070134,12069690,12068629,12059073,12054472,12039948,12023951,12014388,12009340,11984593,11956211,11950844,11940532,11936773,11933191,11908853,11897641,11897640,11883825,11882786,11872746,11867445,11856314,11845316,11845311,11845310,11845308,11845302,11845300,11845294,11813900,11802245,11799116,11796434,11788091,11788090,11788089,11773581,11756355,14685937,14681029,14679190,14660592,14605249,14576497,14570915,14567462,14564043,14555664,14534336,14526128,14500527,12969205,12955726,12952861,12943157,12939655,12938099,12919146,12913074,12885340,12881616,12881487,12881448,12865275,12839834,12833420,12833419,12833400,12825076,12820707,12820662,12815607,12802335,12794695,12792424,12783301,12782133,12779072,12772217,12768409,12767731,12759680,12745925,12732620,12723646,12721956,12690205,12689922,12679372,12679371,12661515,12660625,12651871,12630958,12624947,12615054,12563062,12548396,12529365,12523935,12519745,12509457,12503104,12485421,12483292,12471024,11715005,11713719,11713441,11688981,11686989,11683083,11680956,11667976,11597137,11574497,11569691,11536079,11529289,11462248,11462247,11400707,11397675,11379874,11356077,11354633,11333866,11304524,11243954,11186891,11175304,11168024,11134427,11117575,11115825,11109941,11104661,11095651,11051556,11025834,10893422,10862786,10852925,10799517,10766763,10651488,10561583,10200050,10094564,10075921,11748227,20644644,20487541,19840964,19913121,20059485,20089840,20233947,20463919,20473396,20525683,20551307,20557290,20560922,20565774,20628086,20659818,20717170,20722470,20561529,20590134,11158634,12208510,12477932,1553237,15553237,16203867,16546175,17609059,18555783,18802965,19015188,19056735,19168702,19306924,19332621,19386787,19398555,19403599,19457724,19481507,19502384,19502387,19524678,19533735,19615439,19617352,19620404,19621064,19625452,19643730,19649303,19652440,19654104,19669005,19696993,19707853,19710401,19715466,19724303,19728845,19734299,19737283,19740743,19752774,19759008,19760540,19761259,19781595,19782160,19808659,19810821,19812525,19818767,19828134,19833837,19837660,19843100,19844201,19845690,19847091,19847291,19852935,19880712,19883345,19885835,19889841,19890664,19893581,19897426,19897727,19910674,19917960,19923167,19944699,19952026,19966789,19999232,20005786,20008117,20018497,20021716,20041182,20044041,20044437,20053923,20080093,20080601,20089668,20098842,20100616,20108119,20110677,20116881,20128270,20133716,20142516,20147297,20163773,20167849,20233062,20298391,20334484,20351098,20351101,20386322,20442009,20453000,20460946,20502448,20512161,20517942,20521170,20532200,9792704,12801959,20687133,20687163,20952391,21135173,20734777,20498480,20543983,20607857,20658517,20675380,20696241,20709758,20110398,20554763,20686068 2307071,2314614,1599599,734772,1599596,1599598,2317156,2317157,4140482,4140442,4140430,4140422,4140475,4140453,4140473,4140481,4140450,4140431,4140457,4140464,4140465,4140389,4140448,4139905,4139907,4140445,4140484,4140392,4140395,4140428,4140433,4140439,4140440,4140441,4140390,4140401,4140468,4139910,4140387,4140394,4140393,4140397,4140446,4140447,4140436,4140438,4140429,4140435 1080 AC000061,AC000111,AJ574939,AJ574940,AJ574941,AJ574942,AJ574943,AJ574944,AJ574945,AJ574946,AJ574947,AJ574948,AJ574949,AJ574950,AJ574951,AJ574952,AJ574953,AJ574954,AJ574955,AJ574956,AJ574957,AJ574958,AJ574959,AJ574960,AJ574961,AJ574962,AJ574963,AJ574964,AJ574965,AJ574966,AJ574967,AJ574968,AJ574969,AJ574970,AJ574971,AJ574972,AJ574973,AJ574974,NM_000492,AJ575004,AJ575005,AJ575006,AJ575007,AJ575008,AJ575009,AJ575010,AJ575011,AJ575012,AJ575013,AJ575014,AJ575015,AJ575016,AJ575017,AJ575018,AJ575019,AJ575020,AJ575021,AJ575022,AJ575023,AJ575024,AJ575025,AJ575026,AJ575027,AJ575028,AJ575029,AJ575030,AJ575031,AJ575033,AJ575034,AJ575035,AJ575036,AJ575037,AJ575038,AJ575039,AJ575040,AJ575041,AJ575042,AJ575043,AJ575044,AJ575045,AJ575046,AJ575047,AJ575048,AJ575049,AJ575050,AJ575051,AJ575052,AJ575053,AJ575054,AJ575055,AY848828,AY848829,AY848830,AY848831,AY848832,AY849794,CH236947,AJ575032,AJ574976,AJ574977,AJ574978,AJ574979,AJ574980,AJ574981,AJ574982,AJ574983,AJ574984,AJ574985,AJ574986,AJ574987,AJ574988,AJ574989,AJ574990,AJ574991,AJ574992,AJ574993,AJ574994,AJ574995,AJ574996,AJ574997,AJ574998,AJ574999,AJ575000,AJ575001,AJ575002,AJ575003,AJ574975,DQ354388,DQ354389,DQ354390,DQ354391,DQ356257,DQ356258,DQ356259,DQ356260,DQ356261,DQ356262,DQ356263,DQ356264,DQ388128,DQ388129,DQ388130,DQ388131,DQ388132,DQ388133,DQ388134,DQ388135,DQ388136,DQ388137,DQ388138,DQ388139,CH471070,DQ388140,DQ388141,DQ388142,DQ388143,DQ388144,DQ388145,L49339,M55106,M55131,M58478,M65196,M65197,M96936,S64594,BC143713,M28668,S64699,S82430,NG_016465 CAE00688,EAL24353,ABD72207,NP_000483,AAB46340,AAB46352,CAE00653,CAE00654,CAE00655,CAE00656,CAE00657,CAE00658,CAE00659,CAE00660,CAE00661,CAE00662,CAE00663,CAE00664,CAE00665,CAE00666,CAE00667,CAE00668,CAE00669,CAE00670,CAE00671,CAE00672,CAE00673,CAE00674,CAE00675,CAE00676,CAE00677,CAE00678,CAE00679,CAE00680,CAE00681,CAE00682,CAE00683,CAE00684,CAE00685,CAE00686,CAE00687,CAE00718,CAE00719,CAE00720,CAE00721,CAE00722,CAE00723,CAE00724,CAE00725,CAE00726,CAE00727,CAE00728,CAE00729,CAE00730,CAE00731,CAE00732,CAE00733,CAE00734,CAE00735,CAE00736,CAE00737,CAE00738,CAE00739,CAE00740,CAE00741,CAE00742,CAE00743,CAE00744,CAE00745,CAE00717,CAE00746,CAE00747,CAE00748,CAE00749,CAE00750,CAE00751,CAE00752,CAE00753,CAE00754,CAE00755,CAE00756,CAE00757,CAE00758,CAE00759,CAE00760,CAE00761,CAE00762,CAE00763,CAE00764,CAE00765,CAE00766,CAE00767,CAE00768,CAE00769,AAW33655,AAW33656,AAW33657,AAW33658,AAW33659,AAW33782,CAE00689,CAE00690,CAE00691,CAE00692,CAE00693,CAE00694,CAE00695,CAE00696,CAE00697,CAE00698,CAE00699,CAE00700,CAE00701,CAE00702,CAE00703,CAE00704,CAE00705,CAE00706,CAE00707,CAE00708,CAE00709,CAE00710,CAE00711,CAE00712,CAE00713,CAE00714,CAE00715,CAE00716,EAW83529,EAW83530,EAW83531,ABC79050,ABC79052,ABC79054,ABC79056,ABC87053,ABC87055,ABC87057,ABC87059,ABC87061,ABC87063,ABC87065,ABC87067,ABD72183,ABD72185,ABD72187,ABD72189,ABD72191,ABD72193,ABD72195,ABD72197,ABD72199,ABD72201,ABD72203,ABD72205,ABD72209,ABD72211,ABD72213,ABD72215,ABD72217,AAC41928,AAC13657,AAA51982,AAA51979,AAA51980,AAB59382,AAB20218,AAA35680,AAB27879,AAD14390,P13569,Q16049,Q20BH0,Q20BI4,Q20BI6,Q20BJ8,Q2I0A3,Q2I0A9,Q5I6F9,Q5I6N4,Q5I6N5,Q5I6N6,Q5I6N7,Q6KE95,Q6KEA0,Q6KEA5,Q6KEB2,Q6KEB8,Q6KEC3,Q6KEC8,Q6KED3,Q6KED8,Q6KEE3,Q6KEE7,Q6KEF1,Q6KEF5,Q6KEF9,Q6KEG3,Q6KEG6,Q6KEG9,Q6KEH3,Q6KEH6,Q6KEH8,Q6KEH9,Q6KEI2,Q6KEI7,Q6KEI8,Q6KEJ1,Q6KEJ4,Q6KEJ7,Q99904,Q99989,Q9UJ19,Q9UML7,Q9UML8,Q9UMN4,AAI56255 Hs.489786,Hs.621460,Hs.661104 ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 ATP-binding cassette sub-family C member 7|ATP-binding cassette transporter sub-family C member 7|OTTHUMP00000196524|cAMP-dependent chloride channel|channel conductance-controlling ATPase|cystic fibrosis transmembrane conductance regulator|cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7) protein-coding 1348590 CGA glycoprotein hormones, alpha polypeptide The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. [provided by RefSeq] 2293635,2293633,2293636,2293634,2293637,1580863 1191677,1688430,18240029,19054012,19131506,19136570,19170196,19196802,19383238,19574343,19598235,19625176,19667278,19692168,19730683,19846218,19880179,19929279,20379614,16311298,16007123,15662415,15637148,15489334,15304512,15231748,15004409,14726442,14607569,14585810,12963710,12960071,12920232,12615827,12569177,12477932,12237895,12164786,11900895,11893904,11775891,11266609,11261589,11222739,10821673,10563789,10373373,10342833,9578495,8898911,8202136,8196184,7922031,7679977,7544284,7462224,7410374,6774759,6581542,6286817,6207569,6189397,5065401,5002675,4835135,4745444,3839756,2708337,2611225,2536708,2481154,2449427,1991473,1158880,481597,19344190,18676680,18313839,18206295,18079192,18068163,18063683,18022169,17761764,17690166,17609437,17261286,17143726,17112680,17097221,17045735,16950818,16543672,16461985,1150658,890569,172504,16169070,20660299,17207965,20734064,20600586,20826269,4368999,20634197,20575467,20352046,20400076 2293635,2293633,2293636,2293634,2293637 1081 CR622170,CR626155,FJ624079,V00518,AL138827,CH471051,CQ873162,CS120867,EU081886,J00152,S70585,AB019569,AK311972,BC010957,BC020782,BC055080,CR457427,CR591068,CR591147,CR595519,CR596397,CR598298,CR599056,CR602651,CR607107,CR610488,CR611195,CR611908,CR615870,CR616045,NM_000735,HI574172 ACM91588,CAA23777,P01215,Q6I9S8,Q96QJ4,ADQ33203,NP_000726,CAH70647,EAW48612,EAW48613,EAW48614,EAW48615,CAH56879,CAJ15133,ABU96751,AAD13690,AAB30827,BAG34911,AAH10957,AAH20782,AAH55080,CAG33708,CBX47575 Hs.119689 CG-ALPHA|FSHA|GPHA1|GPHa|HCG|LHA|TSHA FSH-alpha|LSH-alpha|TSH-alpha|anterior pituitary glycoprotein hormones common subunit alpha|choriogonadotropin alpha chain|chorionic gonadotrophin subunit alpha|chorionic gonadotropin, alpha polypeptide|follicle-stimulating hormone alpha chain|follicle-stimulating hormone alpha subunit|follitropin alpha chain|glycoprotein hormones alpha chain|luteinizing hormone alpha chain|lutropin alpha chain|thyroid-stimulating hormone alpha chain|thyrotropin alpha chain protein-coding 1351942 CGB chorionic gonadotropin, beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq] 1580863 1688430,18240029,19005764,19131508,19290844,19501580,19624411,19846218,20065111,20619452,6690982,7723844,6194155,10468638,19106261,19003798,19002615,18802946,18782867,18758818,18752498,18606016,18578862,18577995,18339208,18217981,18048458,18022169,17761764,17437322,17143726,17141398,17139196,17097221,17059865,17045394,16924466,16651852,16632463,16543672,16323172,16007123,15718290,15048184,15004409,12594819,12569177,12477932,12419040,12242028,12175153,11861891,11266609,10715549,10563789,9578495,9542977,8202136,7922031,7513655,7251865,6774259,6319099,6204923,6196363,6160572,3098775,2536708,2468994,2452822,2424697,2422163,2254302,1820200,1510839,1442929,1371113,2447154,20421278,4368999 1082 NM_000737,NG_000019,AC008687,CH471177,K03189,M13504,AK291552,BC022796,BC069526,BC106059,CR593396,CR613376,J00117 NP_000728,EAW52434,AAA53288,AAA52005,BAF84241,AAH22796,AAH69526,AAI06060,AAA96690,P01233,ABM83058,ABM86252 Hs.446683,Hs.726059 CGB3|CGB5|CGB7|CGB8|hCGB CG-beta|choriogonadotropin subunit beta|chorionic gonadotrophin chain beta|chorionic gonadotropin beta 3 subunit|chorionic gonadotropin beta chain|chorionic gonadotropin beta subunit protein-coding 1349143 CGB1 chorionic gonadotropin, beta polypeptide 1 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq] 17055150,12477932,11368883,11181995,8954017,6690982,6319099,6209613,6204923,6194155,2468994,2422163,1371113 114335 NM_033377,NG_000019,AC008687,CH471177,S80935,BC107144,BC126460 NP_203695,EAW52436,AAI26461,AAI72367,A6NKQ9 Hs.659014 choriogonadotropin subunit beta variant 1 protein-coding 1352505 CGB2 chorionic gonadotropin, beta polypeptide 2 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq] 17055150,12477932,11181995,8954017,6690982,6319099,6204923,6194155,2422163,1371113 114336 NM_033378,NG_000019,AC008687,CH471177,K03185,BC069367,BC107143 NP_203696,EAW52435,AAH69367,Q6NT52 Hs.567650 choriogonadotropin subunit beta variant 2|product of CGB2 protein-coding 1347768 CGB5 chorionic gonadotropin, beta polypeptide 5 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq] 1580863 19173346,19047151,19002615,17510243,15309632,15299093,15285305,15253136,15217983,14715707,12914533,12511603,12477932,11893904,10373373,9578495,9012484,8202136,7922031,6690982,6319099,6209613,6204923,6194155,2708337,2611225,2536708,2468994,2452822,2424697,2422163,1371113,172504,20716560,20734064 93659 NM_033043,NG_000019,AC008687,CH471177,X00265,BC006290,BC051378,BC103970,BC103971,BC106723,BC106724,BT006890 NP_149032,EAW52437,CAA25068,AAH06290,AAH51378,AAI03971,AAI03972,AAI06724,AAI06725,AAP35536 Hs.590955 HCG|MGC119822 chorionic gonadotropin beta 5 subunit|chorionic gonadotropin, beta polypeptide 5 protein-coding 1351098 CGB7 chorionic gonadotropin, beta polypeptide 7 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq] 1580863 2422163,15489334,14702039,11861891,10468638,9012484,8202136,7462224,7240231,6774259,6690982,6319099,6209613,6204923,6194155,4795659,2468994,2452822,2424697,1820200,1688430,1371113,1150658 94027 NM_033142,NG_000019,AC008687,AF397576,AF397577,AF397578,AF397579,AF397580,CH471177,K00092,K03182,K03183,M13503,M13505,X00266,AK092722,AK125108 NP_149133,AAL69704,AAL69705,AAL69706,AAL69707,AAL69708,EAW52439,AAA53287,AAA52009,AAA52008,CAA25069,AAI60150 Hs.681647,Hs.727282 CG-beta-a|FLJ35403|FLJ43118 chorionic gonadotropin beta 7 subunit|chorionic gonadotropin, beta polypeptide 7 protein-coding 1343156 CGB8 chorionic gonadotropin, beta polypeptide 8 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq] 12477932,9012484,6690982,6319099,6209613,6204923,6194155,2468994,2452822,2424697,2422163,1371113 94115 NM_033183,NG_000019,AC008687,CH471177,BC030994,BC103969,BC128603,BQ011275,BX118262,BX380841,CR590789,CR593360,CR597606,CR616977 NP_149439,EAW52438,AAH30994,AAI03970,AAI28604 Hs.659014,Hs.726059 chorionic gonadotropin beta 8 subunit|chorionic gonadotropin, beta polypeptide 8 protein-coding 1344268 CGF1 cognitive function 1, social 9192895 1083 1317722 CGGBP1 CGG triplet repeat binding protein 1 CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM] 16169070,19728537,20141036,16381901,15489336,15489334,14667814,14519687,12477932,11256614,11230166,11076863,10692448,9201980,8268919,8069307,8626781 8545 NM_001195308,NM_003663,NM_001008390,AC119733,AF094481,CH471110,AJ000258,AL117392,AL357195,BC005222,BC042194,BC052980,BE501563,BU537042,CR456854 NP_001182237,NP_003654,NP_001008391,AAD04161,EAW68863,EAW68864,CAA03974,CAB55894,AAH52980,CAG33135,Q9UFW8,CAL38583 Hs.444818 CGGBP|p20-CGGBP 20 kDa CGG-binding protein|CGG triplet repeat-binding protein 1|CGG-binding protein 1|OTTHUMP00000213878|OTTHUMP00000213997|p20-CGG binding protein|p20-CGGBP DNA-binding protein protein-coding 1323740 CGN cingulin 1580863 11042084,12529927,16710414,16083285,15866167,15342556,15324660,15146197,14702039,12665801,12477932,12023291,10877843,10718198,10613913,17353931,15778465,20086175 57530 NM_020770,AL365436,CH471121,AB037740,AF263462,AK290007,BC146657,BC150604,BP331021,BX647343,CN359389,BC152445 NP_065821,EAW53434,EAW53435,BAA92557,AAF74498,BAF82696,AAI46658,AAI50605,AAI52446,Q9P2M7,CAI16590 Hs.591464 DKFZp779N1112|FLJ39281|KIAA1319 cingulin protein-coding 1348912 CGN1 conglutinin 1 1099 1353387 CGNL1 cingulin-like 1 15292197,14702039,12736278,12477932,11214970,20936779,18653465 84952 NM_032866,AC016525,AC025271,CH471082,AB051536,AK027025,AK027863,AK056673,AK307410,AL110171,AY274808,AY610514,BC021799,BC030995,BC062770,BC093827,BC112049,BC118918,BC118919,BQ023767 NP_116255,EAW77521,BAB21840,BAB55415,BAB71249,AAP42073,AAT37906,AAH30995,AAH62770,AAH93827,AAI12050,AAI18919,Q0VF96,Q6P5Q2 Hs.148989 FLJ14957|JACOP|KIAA1749|MGC138254 cingulin-like protein 1|junction-associated coiled-coil protein|paracingulin protein-coding 1353373 CGREF1 cell growth regulator with EF-hand domain 1 632480,1580863 19913121,20628086,8968090,12477932,16341674,16344560,8889548 632480 10669 AC013403,CH471053,AK290128,AK302185,AK309147,BC034764,NM_006569,CR593274,CR619230,CR623121,U66468,AI870942,BM716977,BM849276,BX419588,DB056279,NM_001166239,NM_001166240,NM_001166241 NP_006560,AAX93168,EAX00635,EAX00636,EAX00637,EAX00638,EAX00639,BAF82817,BAG63550,AAH34764,AAC50896,Q99674,ABM81751,ABM84905,NP_001159711,NP_001159712,NP_001159713 Hs.159525 CGR11 OTTHUMP00000200952|OTTHUMP00000200955|OTTHUMP00000200956|cell growth regulator with EF hand domain 1|cell growth regulator with EF hand domain protein 1|cell growth regulator with ef hand domain 1|cell growth regulatory gene 11 protein|hydrophobestin protein-coding 733810 CGRRF1 cell growth regulator with ring finger domain 1 632480 20677014,12477932,12070015,19690564,8968090,18029348,15489334,17207965 632480 10668 NM_006568,AL359792,CH471061,AK289478,AK315318,AW664053,BC015063,BG701924,CR601996,U66469 NP_006559,EAW80640,EAW80641,EAW80642,BAF82167,BAG37721,AAH15063,AAC50897,Q99675,ACE87842,ACT64572,ADQ31704 Hs.59106 CGR19|RNF197 RING finger protein 197|cell growth regulator with RING finger domain protein 1|cell growth regulatory gene 19 protein protein-coding 1321560 CH25H cholesterol 25-hydroxylase This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq] 1580863 16909003,16157450,15489334,15465627,15164054,12477932,17373700,9852097,18830724,20445134,20699362,20534741,20535486,20574532,21041692,16385451,20413850 9023 NM_003956,AK314865,AF059212,AL513533,CH471066,AF059214,BC017843,BC072430,HH768017,FB336678 NP_003947,AAC97481,CAI13519,EAW50146,AAC97483,BAG37380,AAH17843,AAH72430,O95992,ABM82952,ABM86144,CBX84760,CAR81282 Hs.47357 C25H cholesterol 25-hydroxylase|cholesterol 25-monooxygenase|h25OH protein-coding 1604291 CHAC1 ChaC, cation transport regulator homolog 1 (E. coli) 16189514,16341674,15489334,12477932,8889548,19109178 79094 NM_024111,CR604510,NM_001142776,AC020661,CH471125,AY702027,BC001683,BC001847,BC019625,BM665296,BM784841,BQ900544,CB529304,CR591065,CR592413,CR597001,CR598230,CR598799,CR601069,CR608003,CR617904,CR620504,CR624884 NP_001136248,EAW92467,AAW23972,AAH01683,AAH01847,AAH19625,NP_077016,Q9BUX1 Hs.155569 MGC4504 ChaC, cation transport regulator-like 1|cation transport regulator-like protein 1 protein-coding 1606619 CHAC2 ChaC, cation transport regulator homolog 2 (E. coli) 12477932,17207965 494143 NM_001008708,AC007883,CH471053,BC017941,BC019239,BC025376,BC053896 NP_001008708,AAY24351,EAX00172,EAX00173,AAH17941,AAH19239,AAH25376,AAH53896,Q8WUX2,ADQ32202 Hs.585944 ChaC, cation transport regulator-like 2|cation transport regulator-like protein 2 protein-coding 734435 CHAD chondroadherin Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq] 1580863 9281592,1939097,15489334,12477932,11445564,9344663,19525844 1101 NM_001267,AC021491,CH471109,U96767,U96768,U96769,AF371328,AK292177,BC036360,BC073974,BQ181527 NP_001258,EAW94613,EAW94614,AAC13410,AAK51556,BAF84866,AAH36360,AAH73974,O15335 Hs.97220 SLRR4A OTTHUMP00000221419|cartilage leucine-rich protein|chondroadherin|chondroadherin proteoglycan protein-coding 2292054 CHADL chondroadherin-like 18029348,12477932 150356 NM_138481,AL035681,CH471095,BC012882,BC019839,BC040188,BC048421,BC068590 NP_612490,CAI22653,EAW60419,AAH12882,AAH19839,AAH40188,AAH48421,AAH68590,Q6NUI6 Hs.344488 SLRR4B OTTHUMP00000198752|chondroadherin-like protein protein-coding 1353205 CHAF1A chromatin assembly factor 1, subunit A (p150) Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM] 1580863 7600578,19324875,18559551,18270339,17099699,17081983,16964243,16826239,15882967,15664198,15489334,15456888,15327775,15302935,15231747,15067324,12837248,12771185,12697822,12477932,11897662,11250073,10938122,10893180,10648606,10549285,10052459,9614144,8858152,17353931,19059499,19498464,20211142,20800603,15143166,15805117,17066076,17081972,17452450,17474147,19822659,19919826,17173071,19845771,20936779 10036 NM_005483,AC011498,AF190465,CH471139,AA576757,BC005813,BC011560,BC041606,BC052620,BC067093,BE796132,BG775588,BM826511,BQ889365,H98924,U20979 NP_005474,AAF04291,EAW69224,EAW69225,EAW69226,AAH52620,AAH67093,AAA76736,Q13111 Hs.79018 CAF-1|CAF1|CAF1B|CAF1P150|MGC71229|P150 CAF-1 subunit A|CAF-I 150 kDa subunit|CAF-I p150|chromatin assembly factor 1 subunit A|chromatin assembly factor I (150 kDa)|chromatin assembly factor I p150 subunit|hp150 protein-coding 1316940 CHAF1B chromatin assembly factor 1, subunit B (p60) Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq] 1580863 17081972,17452450,18029348,19498464,19759913,20178651,7600578,9614144,16780588,19309489,17081983,16980972,15664198,15489334,15302935,15068244,15024074,12771185,12477932,11897662,10938080,10893180,10830953,9813080,8885239,8858152,8792829,8660983,17353931,12697822,12837248 8208 NM_005441,AP000694,AP001725,CH471079,AK313152,AL711314,BC001143,BC021218,CR597529,U20980,X98262 NP_005432,BAA89426,BAA95549,EAX09741,BAG35970,AAH21218,AAA76737,CAA66915,Q13112 Hs.75238 CAF-1|CAF-IP60|CAF1|CAF1A|CAF1P60|MPHOSPH7|MPP7 CAF-1 subunit B|CAF-I 60 kDa subunit|CAF-I p60|M-phase phosphoprotein 7|chromatin assembly factor 1 subunit B|chromatin assembly factor I p60 subunit|human chromatin assembly factor-I p60 subunit protein-coding 1312173 CHAT choline acetyltransferase This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer disease. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq] 2301195,1600851,1600834,1600831 19913121,20602615,20628086,10861222,19156168,19086053,18780301,18603262,18562794,18559515,18379437,18322398,18165968,17503482,17503475,17378730,17373692,17144655,16480703,16468020,16424819,16223550,15913843,15690550,15381704,15276243,14514417,8071310,8057782,7682855,7616604,3480542,3183663,3086876,2004764,1840566,1784419,1400357,1388731,1339386,1337937,12770689,12759818,12637523,12628465,12609506,12486117,12477932,12401548,12393272,11595752,11172068,10692442,10594838,10369388,9073174,8515278,8479291,16385451,19711100,19776575,20100532,20227257,20379614,20383528,20468060,20877624,20560540,20147892 2301195,1600851,1600834,1600831 1103 NM_020984,NM_020985,NM_020986,NM_020549,NM_001142929,NM_001142933,NM_001142934,NG_011797,AC073366,AF305906,CH471187,L33837,M89917,M96015,X56585,X56879,X65023,AF305907,AF305909,AF450452,AK296108,BC130615,BC130617,D82339,D82340,D82341,D82342,S45018,S56138,AF305908 NP_066264,NP_066265,NP_066266,NP_065574,NP_001136401,NP_001136405,NP_001136406,AAK08950,AAK08951,AAK08952,EAW93086,EAW93087,EAW93088,EAW93089,EAW93090,EAW93091,EAW93092,AAC37590,CAA39923,CAA40201,CAA46157,AAK08953,AAK08954,AAK08955,AAL48258,BAG58858,AAI30616,AAI30618,BAA18943,BAA18944,BAA18945,BAA18946,AAB23557,AAA14245,P28329,Q6LBL1,Q6LDF3,Q6LEN5,Q6LEN6,Q8WXE3,ADR83068 Hs.302002 CHOACTASE|CMS1A|CMS1A2 acetyl CoA:choline O-acetyltransferase|choline O-acetyltransferase|choline acetylase protein-coding 1316148 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 19169841,16341674,15489334,15177562,12477932,20877624 118487 NM_203298,AC022400,CH471083,AK098720,BC015387,BC020852,BM787401,CR603253 NP_976043,EAW54520,AAH15387,AAH20852,Q96BP2,ACE87840,ACT64570 Hs.181174 C10orf34|C2360|FLJ25854 coiled-coil-helix-coiled-coil-helix domain-containing protein 1|nuclear protein C2360 protein-coding 1347670 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 15489334,12477932,20888800,18029348,19913121,20628086,20877624 400916 NM_213720,AB050774,AP000349,CH471095,AK289560,BC053570,BC065232,CR594120,CR621040 NP_998885,BAB83036,EAW59602,BAF82249,AAH65232,Q8WYQ3 Hs.66915 C22orf16|MGC70831|N27C7-4 coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial|protein N27C7-4 protein-coding 1320361 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 15489334,12853948,12477932,17207965,20877624 51142 NM_016139,AC006970,CH471140,AF078845,AY605046,AY633613,BC003079,BC015639,BC066331,BC071985,BC100275,BF347122,CR600933,CR603585,CR607489,CR608987,CR617975 AAH71985,NP_057223,AAQ96886,EAX07990,AAD44477,AAT35813,AAV33306,AAH03079,AAH15639,AAH66331,AAI00276,Q9Y6H1,ACE87742,ACE87061,ADQ32967 Hs.389996,Hs.547257 C7orf17 16.7kD protein|HCV NS2 trans-regulated protein|NS2TP|aging-associated gene 10 protein|coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial protein-coding 1321163 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 1580863 20379614,16189514,19240061,17624330,16565220,15489334,12690205,12477932,14702039,20877624,17207965 54927 NM_017812,AC009365,AC083873,AC093145,CH236950,CH471070,AK000427,AK129533,AK294071,AK310236,BC011596,BC014839,CR590478,CR592685,CR595326,CR597341,CR601305,CR603574,CR606831,CR619969,AC008038 NP_060282,EAL24074,EAW83800,EAW83801,EAW83802,EAW83803,BAA91157,BAH11665,AAH11596,AAH14839,Q9NX63,ADQ31869 Hs.655010 FLJ20420 OTTHUMP00000207489|OTTHUMP00000207490|coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial protein-coding 1321831 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM] 737633 16185709,15489334,14702039,12477932,19397338,18779329,17336303,20877624 737633 131474 NM_001098502,NM_144636,AC090004,CH471055,AK056271,AK290764,BC017082,BC033775,CR596652,CR598357,CR598522,CR604058,CR618638,DB452249,DB501565 NP_001091972,NP_653237,EAW64180,EAW64181,EAW64182,EAW64183,BAB71132,BAF83453,AAH17082,AAH33775,Q8N4Q1 Hs.517815 FLJ31709|MIA40|TIMM40 coiled-coil-helix-coiled-coil-helix domain-containing protein 4|mitochondrial intermembrane space import and assembly 40 homolog|mitochondrial intermembrane space import and assembly protein 40|translocase of inner mitochondrial membrane 40 homolog protein-coding 1317218 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 15489334,14702039,12477932 84269 NM_032309,AC012442,CH471217,AK096990,AK312219,BC004498,CR621804,CR625580 NP_115685,AAX82000,EAW73594,EAW73595,BAC04922,BAG35152,AAH04498,Q585T4,Q8N8C4,Q9BSY4 Hs.375707 C2orf9|FLJ39671|MGC11104 coiled-coil-helix-coiled-coil-helix domain-containing protein 5 protein-coding 1312070 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 737633 19240061,17624330,15489334,12477932,20379614 737633 84303 AC092898,AC117450,CH471052,AK310910,AK311056,BC006123,NM_032343,AC078867 EAW79352,AAH06123,Q9BRQ6,NP_115719 Hs.518119 MGC13016 OTTHUMP00000215952|OTTHUMP00000215955|OTTHUMP00000215956|coiled-coil-helix-coiled-coil-helix domain-containing protein 6 protein-coding 1347837 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 737633 20877624,19266077,18391951,18391950,16736500,15489334,14702039,12477932,9373149,8125298,20546612 737633 79145 NM_001011667,NM_001011668,NM_001011669,NM_024300,NM_001011670,NM_001011671,AC107952,CH471068,AK095922,AK098285,AK225982,AK290088,AY070434,BC002546,BX473986,CR601205,CR607136 NP_001011667,NP_001011668,NP_001011669,NP_077276,NP_001011670,NP_001011671,EAW86776,EAW86777,EAW86778,EAW86779,BAF82777,AAL65261,AAH02546,Q9BUK0 Hs.436913 FLJ40966|MGC2217 coiled-coil-helix-coiled-coil-helix domain-containing protein 7 protein-coding 1602710 CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 16381901,15489336,12477932,11230166,11085516,11076863 51287 AF242180,AK000434,AL359618,BC106036,CR609617,CR624286,NM_016565,AP002770,CH471076 EAW74914,EAW74915,EAW74916,AAF60345,CAH10681,AAI06037,Q9NYJ1,CAL37680,NP_057649 Hs.475387 DKFZp762H1711|E2IG2|MGC117206 E2-induced gene 2 protein|coiled-coil-helix-coiled-coil-helix domain-containing protein 8 protein-coding 1602600 CHCHD9 coiled-coil-helix-coiled-coil-helix domain containing 9 19714205,20581827 645345 NG_009939,AL450243 CAI15794 C9orf49 pseudo 1315610 CHD1 chromodomain helicase DNA binding protein 1 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq] 1580863 9326634,17098252,17081983,16372014,16263726,15146197,14702039,12890497,12522270,12477932,10199952,8889548,8460153,7739555,17353931,16728976,17540172,19441106,19625449,20363151,20379614 1105 NM_001270,AC022121,CH471084,AF006513,AK094871,BC054860,BC117134,BM698633,BQ436172,BX648767,CN277742 NP_001261,EAW96098,AAB87381,BAG52945,AAH54860,AAI17135,O14646,Q7Z4M7 Hs.643465 DKFZp686E2337 ATP-dependent helicase CHD1|CHD-1|chromodomain-helicase-DNA-binding protein 1 protein-coding 1323647 CHD1L chromodomain helicase DNA binding protein 1-like 1298632 18464913,18023026,16344560,12477932,11329013,11042152,9653160,9373149,8125298,8076819,15902274,14702039,18029348,19661379,19666485,20335658,20453000 1298632 9557 NM_004284,AL356378,CH471223,AF054177,AF537213,AK001342,AK026183,AK027631,AK223496,AK293157,AK297135,AK298424,AK307400,BC001171,BC005038,BC008649,BC043501,BC053354,BC077717,BG195857,DA155685,EC452903,EF560738 NP_004275,CAH72650,EAW50936,EAW50937,EAW50938,AAC39911,AAO49505,BAA91637,BAB15386,BAB55248,BAD97216,BAG56702,BAG59638,BAG60647,AAH01171,AAH05038,AAH08649,AAH43501,AAH77717,ABQ59048,O75435,Q86WJ1,Q9H678 Hs.191164 ALC1|CHDL|FLJ22530 amplified in liver cancer 1|amplified in liver cancer protein 1|chromodomain-helicase-DNA-binding protein 1-like protein-coding 1320737 CHD2 chromodomain helicase DNA binding protein 2 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 9326634,17606441,16572171,16344560,16204458,15146197,14702039,14684825,12477932,20379614 1106 NM_001042572,AC013394,CH471101,AA907775,AF006514,AK095933,AK292850,AK295909,AY429527,AY429528,BC007347,BC020810,BC047036,BC107885,BT007050,BU630151,BX537626,CN277753,CT003638,DB111282,DB121252,DQ088985,DQ088986,NM_001271,AL831836,NG_012826 NP_001262,NP_001036037,EAX02160,EAX02161,EAX02162,EAX02163,EAX02164,EAX02165,AAB87382,BAF85539,BAH12220,AAH07347,AAH20810,AAP35699,AAZ85980,AAZ85981,O14647,Q3YLD5,Q3YLD6,Q6AI05,Q8N677,Q96IP5,AAI72425 Hs.220864 DKFZp547I1315|DKFZp686E01200|DKFZp781D1727|FLJ38614 ATP-dependent helicase CHD2|CHD-2|chromodomain-helicase-DNA-binding protein 2 protein-coding 1349317 CHD3 chromodomain helicase DNA binding protein 3 This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq] 1580863 17827154,19703393,9326634,9688266,12505151,15383276,18922793,17626165,17489097,17081983,16169070,15635413,15302935,15020045,14702039,14609633,12705869,12477932,12374985,11230151,10961991,10662545,10471500,10204490,9921901,9804427,8889548,8843877,7575689,7560064,1639417,11784859,10444591,12198550,12493763,15456747,15454082 1107 NM_001005271,NM_001005273,NM_005852,AC104581,CH471108,AF064844,AK096555,AK125928,AK296725,AK296937,AK308362,BC110648,BM554923,BX283837,CB851648,U08379,U91543 NP_001005271,NP_001005273,NP_005843,EAW90114,EAW90115,EAW90116,BAG54266,BAG59313,BAG59488,AAI10649,AAC50228,AAC39923,Q12873,Q2TAZ1,AAI56473 Hs.25601 Mi-2a|Mi2-ALPHA|ZFH ATP-dependent helicase CHD3|CHD-3|chromodomain-helicase-DNA-binding protein 3|hZFH|mi-2 autoantigen 240 kDa protein|zinc finger helicase|zinc-finger helicase (Snf2-like) protein-coding 1322684 CHD4 chromodomain helicase DNA binding protein 4 The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. [provided by RefSeq] 734775,1580863 9326634,7560064,19158090,17694084,17626165,17314511,17081983,16186106,15635413,15489334,15302935,15231747,15189737,14702039,14530259,12842043,12493763,12477932,12124384,12015313,11790298,11102443,10545197,10444591,9804427,9790534,8843877,7575689,12374985,12920132,10220385,12354758,19321449,15144897,19296121,19615732,19624289,19644445 734775 1108 NM_001273,AC006064,CH471116,AK128741,BC014964,BC025962,BC038596,CR590459,CR617082,CR936680,X86691 NP_001264,EAW88777,EAW88778,EAW88779,BAG54725,AAH14964,AAH25962,AAH38596,CAA60384,Q05CG6,Q14839,ABZ92034 Hs.162233 DKFZp686E06161|Mi-2b|Mi2-BETA ATP-dependent helicase CHD4|CHD-4|Mi-2 autoantigen 218 kDa protein|chromodomain-helicase-DNA-binding protein 4 protein-coding 1317694 CHD5 chromodomain helicase DNA binding protein 5 Changes in gene expression are associated with changes in chromatin structure, which can result from modification of histones by acetylation and methylation. In addition, SWI/SNF proteins can effect chromatin structure and gene expression by causing ATP-dependent disruption of the nucleosome and by enhancing binding of transcription factors. CHD5 belongs to a group of SWI/SNF proteins called CHD proteins, which contain a SWI/SNF-like helicase/ATPase domain, as well as a DNA-binding domain and a chromodomain that directly modifies chromatin structure (Thompson et al., 2003 [PubMed 12592387]).[supplied by OMIM] 1580863 20950435,18953434,18698156,18577749,18413720,17289567,17081983,16710414,15489334,14702039,12592387,12168954,11889561,11780052,10718198,9455484,19840376 26038 AW005809,AL035406,AL031847,CH471130,AB007913,AF425231,AK091386,AK126012,AK127046,AL110281,AL117491,AL137693,BC048142,CR617440,NM_015557 CAI19450,NP_056372,CAI19451,CAI19883,CAI19891,CAI19894,EAW71516,BAA32289,AAL98962,BAG52346,BAC86391,BAC86802,CAH56404,CAB55959,CAH56377,Q5TG85,Q659D0,Q659F1,Q6ZSZ4,Q6ZU36,Q8TDI0,AAI46382,AAI48804 Hs.522898 DKFZp434N231|KIAA0444 ATP-dependent helicase CHD5|CHD-5|chromodomain-helicase-DNA-binding protein 5 protein-coding 1321381 CHD6 chromodomain helicase DNA binding protein 6 Chromosomal DNA of eukaryotic cells is compacted by nuclear proteins to form chromatin, an organized nucleoprotein structure that can inhibit gene expression. Several multisubunit protein complexes exist to remodel the chromatin to allow patterns of cell type-specific gene expression. The protein encoded by this gene is thought to be a core member of one or more of these complexes. The encoded protein, which is a member of the SNF2/RAD54 helicase family, contains two chromodomains, a helicase domain, and an ATPase domain. [provided by RefSeq] 1580863 12592387,17525332,17081983,17027977,15489334,15231748,14702039,12477932,12168954,11889561,11780052,10718198,20631145,20936779,16314513,20085707,20379614 84181 NM_032221,AL031667,AL031669,AL121674,CH471077,AB037756,AF525085,AK026022,AK091551,AK098144,AK296955,AY034072,BC012516,BC021907,BC039860,BC040016,BF063641,CR749575 NP_115597,CAI42977,CAI42983,CAI22254,CAI22255,CAI21743,CAI21744,CAI21745,EAW75974,EAW75975,EAW75976,EAW75977,EAW75978,EAW75980,EAW75981,BAA92573,AAN59903,BAB15325,BAG59500,AAK56405,AAH21907,Q8TD26,AAI72397,EAW75979,CAI42981 Hs.371979,Hs.725365 CHD5|KIAA1335|RIGB ATP-dependent helicase CHD6|CHD-6|chromodomain-helicase-DNA-binding protein 6|helicase C-terminal domain- and SNF2 N-terminal domain-containing protein|radiation-induced gene B protein protein-coding 1323630 CHD7 chromodomain helicase DNA binding protein 7 This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq] 20800603,20425471,20591827,20507341,17684005,9556299,16155193,15300250,17937444,19336370,19159393,19065520,19021638,18834967,18505430,18484313,18472328,18445044,18074359,18073582,17661815,17603073,17436250,17299439,17253929,16763960,16400610,16207732,16169932,16118347,15302935,14702039,12477932,12168954,10737800,10718198,10590394,9373149,8125298,20634891,18978652,19248844,19279158,20130577,20186815,20453063,20736290 55636 NM_017780,NG_007009,AC023102,AC113143,CH471068,AB037837,AK000364,AK000368,AK123158,AK225354,AK295751,AL833190,AW750162,BC014681,BC033116,BC041018,BC051264,BC053890,BC068000,BC080627,BC110818,CR602498,GU060498 NP_060250,EAW86830,EAW86831,EAW86832,EAW86833,EAW86834,BAA92654,BAA91113,BAA91116,BAC85544,BAG58582,AAH14681,AAH51264,AAH53890,AAH68000,AAH80627,AAI10819,Q6ZWF9,Q9P2D1,AAI72443,ACY35999 Hs.20395 FLJ20357|FLJ20361|IS3|KAL5|KIAA1416 ATP-dependent helicase CHD7|CHD-7|chromodomain helicase DNA binding protein 7 isoform CRA_e|chromodomain-helicase-DNA-binding protein 7 protein-coding 1342489 CHD8 chromodomain helicase DNA binding protein 8 1580863 20215423,16949368,18378692,17938208,17081983,16964243,15489334,15367660,14702039,12477932,12168954,11744694,11549288,10997877,10921920,7505766,15456888,20936779,20308527,19454010,20453063,15146197,15960975,16344560,19151705,19255092,20085832 57680 NM_020920,AL135744,AL161747,CH471078,AB046784,AK056639,AK098408,AK122868,AK122910,AK131077,AL834524,BC011695,BC025964,BC036920,BC063693,BC073903,BC098452,CR749315,U00930,AW327785,CN290520,DA327823,DB344386,NG_021249,NM_001170629 NP_065971,EAW66385,BAB13390,BAC85127,CAD39180,AAH11695,AAH25964,AAH36920,AAH63693,AAH73903,AAH98452,CAH18170,Q9HCK8,AAI56440,NP_001164100 Hs.530698 DKFZp686N17164|HELSNF1|KIAA1564 ATP-dependent helicase CHD8|CHD-8|axis duplication inhibitor|beta-catenin binding protein-like|chromodomain-helicase-DNA-binding protein 8|duplin|helicase with SNF2 domain 1 protein-coding 1315612 CHD9 chromodomain helicase DNA binding protein 9 16554032,17081983,16705189,16523501,16095617,14702039,12477932,10931946,9205841,8889548,20379614 80205 AC007906,AC079416,CH471092,AB002306,AK022240,AK022582,AK092208,AK299045,AL693511,AY243500,AY243501,AY243502,AY243504,AY647157,BC022889,BC027491,BC033770,BC140815,NM_025134,DQ059482,DQ333316,BC144622,BM667038,BX390832,CR609999 NP_079410,EAW82793,EAW82794,EAW82795,EAW82796,EAW82797,EAW82798,BAA20767,BAB14112,BAC03829,BAG61119,AAQ24287,AAQ24288,AAQ24289,AAT66509,AAH33770,AAI40816,AAY87153,ABD24032,Q3L8U1,Q461N2,Q8N4Q2,Q8NAR9,AAI44623 Hs.59159,Hs.622347 AD013|CReMM|KISH2|PRIC320 ATP-dependent helicase CHD9|CHD-9|PPAR-alpha-interacting complex protein 320 kDa|PPAR{gamma}-interacting cofactor 320 kDa|chromatin remodeling factor CHROM1|chromatin-related mesenchymal modulator|chromatin-remodeling factor CHROM1|chromodomain-helicase-DNA-binding protein 9|ciprofibrate bound protein p240|kismet homolog 2|peroxisomal proliferator-activated receptor A-interacting complex 320 kDa protein|proteinx0008 protein-coding 1347167 CHDH choline dehydrogenase 1580863 18230680,17975144,16816108,15489334,12477932,19737740,20031640,20175737,20237496,15146197,20662904,20877624 55349 AJ272267,NG_028042,NM_018397,AC012467,CH471055,AK297575,BC034502,BE856786,CN285856 NP_060867,EAW65296,EAW65297,CAB75961,BAG59966,AAH34502,Q8NE62,ACE87312,ACE86630 Hs.126688 CDH|CHD|choline dehydrogenase, mitochondrial protein-coding 1351462 CHE2 cholinesterase (serum) 2 2758686 1110 1344600 CHED1 corneal endothelial dystrophy 1 (autosomal dominant) 8634716 8197 1353204 CHED2 corneal endothelial dystrophy 2 (autosomal recessive) 10209448,10512674 9574 732292 CHEK1 CHK1 checkpoint homolog (S. pombe) 1580863,2317235,2316155,2316156,2316109,2317234 20159774,20616048,20644561,19714462,20495005,20567916,20053681,20123862,20599444,20805465,11836499,15798197,16330544,16963448,17157788,17292828,9278512,9278511,12791985,9382850,12399544,19546241,19487575,19401701,19276361,19270516,19242509,19177015,19124506,19119425,19091954,19064572,19064565,19060337,18983824,18950845,18820127,18723495,18698031,18676680,18671143,18642443,18632613,18566216,18550533,18495871,18480045,18469532,18451105,18448427,18434539,18424430,18381943,18346918,18339864,18331829,18317453,18270339,18247328,18243098,18239674,18229454,18159231,18088187,18071310,18029388,17986860,17962807,17912454,17879369,17726372,17716975,17684142,17638866,17611684,17544403,17491592,17468739,17464182,17408908,17296736,17276342,17274954,17106257,17102638,17015476,17003105,16951182,16927022,16912045,16885021,16880517,16873548,16828751,16732333,16652144,16649252,16629900,16619043,16581803,16501606,16414312,16280359,16217032,16163388,16159883,16137618,16123041,15974586,15961392,15870257,15831461,15775976,15761153,15743907,15710331,15707391,15705874,15699047,15688426,15665856,15659650,15655357,15650047,15647386,15601819,15539958,15526025,15489334,15342556,15326376,15324660,15311285,15279790,15225637,15220350,14988723,14759516,14681223,14681206,14657349,14624239,14570880,14559997,14504477,12959929,12955071,12902976,12813133,12791699,12766152,12759351,12756247,12738771,12676962,12676925,12676583,12660173,12588868,12477932,12446774,12244092,12150968,12062056,11912127,11896572,11821419,11709713,11551930,11535615,11390642,11333986,11329013,11252893,10859164,10761933,10717241,10681541,10673501,10557092,9765199,16306615,12963847,15364958,10608806,15735702,11799067,15149599,17290223,18614046,19170196,19453842,19473886,19477924,19570909,19584159,19625176,19628579,19690177,19692168,19694479,19716789,19743875,19778378,19828454,19837665,19838212,19843865,19861535,19903823,19931269,20029092,20068082,20090422,20146081,20233725,20453000,20496165,20508983,16705183,16783362,16511572,20562859,19615254,20514472,20639859,17035231,20731661 2317235,2316155,2316156,2316109,2317234 1111 NM_001114122,NM_001274,AB032387,AF527555,AP001132,AY304548,CH471065,AB451222,AB451345,AF016582,AF032874,AK292549,AK293143,AK299783,AK300082,BC004202,BC017575,BG191840,BG216281,BG218896,BP207812,CR591943,CR597063,CR609507,CR612881,NM_001114121 NP_001107593,NP_001107594,NP_001265,BAA84577,AAM78553,AAQ76038,EAW67644,BAG70036,BAG70159,AAC51736,AAB88852,BAF85238,BAG56691,BAG61665,BAG61885,AAH04202,AAH17575,O14757,Q6W8P8,ABM83833,ABM87141 Hs.24529 CHK1 Checkpoint, S. pombe, homolog of, 1|serine/threonine-protein kinase Chk1 protein-coding 732861 CHEK2 CHK2 checkpoint homolog (S. pombe) In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2289704,2289706,2289703,2289705,2289707,2289708,2298483,2298484,2298482,2293868,2296067,1580863,1599601,2316155,2316156 14744935,15149599,15380617,16794575,17157788,19289404,19362748,19375317,19453842,19473886,19536092,19548527,19597488,19609724,19656415,10591208,10557092,10435585,10097108,9857181,9450932,9407135,9278512,15122511,16983346,18480045,18804494,17525332,15933716,15790808,15064416,20364141,20442702,17035231,20643596,20731661,20159774,10673500,12548019,12533788,12529183,12493754,12477932,12454775,12447371,12441400,12393693,12386164,12242661,12111733,12094328,12052256,12049741,12049740,12024051,11984555,11967536,11901158,11875739,11821419,11793476,11751432,11746983,11741546,11719428,11715017,11551930,11461078,11438675,11390408,11333986,11298456,11172707,11073977,10973490,10801407,10744722,10724175,10710310,12402044,9836640,9889122,10617473,19480937,19451272,19401704,19399639,19372713,19338683,19338682,19265784,19177012,19176998,19151762,19124506,19124502,19116388,19064572,19062161,19030985,19021634,19020308,18996005,18971944,18957425,18955500,18950845,18948271,18930998,18834326,18833288,18812180,18802408,18797466,18759107,18725978,18706089,18676774,18667510,18644861,18571837,18566483,18566216,18557994,18538787,18484200,18482988,18415014,18381943,18381420,18321553,18317453,18297428,18281249,18270339,18253122,18178638,18175216,18172190,18167186,18162465,18086786,18086781,18085035,18058223,18024013,18004398,17918154,17876702,17721994,17715138,17705858,17698850,17694537,17684142,17671118,17663721,17661168,17634426,17544403,17517688,17464182,17428325,17428320,17409195,17409144,17380889,17372254,17341484,17333477,17333333,17317627,17250914,17214356,17178848,17169815,17164383,17164260,17145815,17132695,17132159,17113724,17106448,17101782,17085682,17040931,17030982,17026620,16998506,16998498,16943424,16941491,16940182,16936775,16914568,16905549,16883537,16880452,16858628,16835864,16835227,16830057,16828850,16816021,16798742,16790090,16758118,16741947,16732333,16705183,16671833,16596250,16574953,16539695,16492927,16481012,16452051,16437383,16414312,16341674,16337852,16317088,16311512,16257342,16239104,16163388,16078115,16043347,15987456,15980987,15964795,15942682,15876876,15862297,15852425,15818573,15810020,15803365,15803363,15700044,15694385,15668230,15659650,15649950,15647386,15618221,15601819,15535844,15492928,15489334,15488637,15472904,15467464,15466005,15461802,15385111,17010071,15361853,15361851,15361830,15342622,15239132,15192702,15095295,15087378,15057041,15048074,15044452,15024084,14997059,14970869,14701743,14681223,14678969,14648717,14624239,14612911,14568168,14514889,14507240,12917215,12909615,12897801,12855706,12810724,12805407,12717439,12711320,12690581,12676583,12654917,12654916,12610780,12607004,12556502,12551934,19714462,20434834,20644561,20658728,20722467,19615254,19763819,19768534,19772467,19782031,19789190,19798429,19839522,19840931,19863560,19876921,19881958,19922265,19996108,20023412,20023427,20080130,20200249,20204303,20306497,20417869,20453000,20462940,20472656,20496165,20875877,21070773,21156285,20599567,20668524,20729852,20548946,20713355 2289704,2289706,2289703,2289705,2289707,2289708,2298483,2298484,2298482,2293868,2296067,1599601,2316155,2316156 11200 NM_145862,NM_007194,NM_001005735,NG_008150,AL117330,AL121825,AY800241,CH471095,AB040105,AF086904,AF096279,AF174135,AF217975,AJ131197,AJ783839,AK289360,AK290754,AW778747,AY551295,AY551296,AY551297,AY551298,AY551299,AY551300,AY551301,AY551302,AY551303,AY551304,AY551305,BC004207,BM838597,CR456418,CR595769,CR596630,CR602347,CR615398,CR617629,CR618816,CR619314,CR620861,CR622982,CR623156 NP_665861,NP_009125,NP_001005735,CAH73875,CAH73823,AAV41895,EAW59754,EAW59755,EAW59756,EAW59757,BAB17231,AAC83693,AAD11784,AAD48504,AAG17218,CAA10319,CAH04270,BAF82049,BAF83443,AAS58456,AAS58457,AAS58458,AAS58459,AAS58460,AAS58461,AAS58462,AAS58463,AAS58464,AAS58465,AAS58466,AAH04207,CAG30304,O96017,Q683Z8,Q9HBS5,CAK54410,CAK54709,ABM84059,ABM87412 Hs.291363,Hs.505297 CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53 OTTHUMP00000199044|OTTHUMP00000199045|OTTHUMP00000199064|OTTHUMP00000199115|OTTHUMP00000199116|checkpoint-like protein CHK2|protein kinase CHK2|protein kinase chk2|serine/threonine-protein kinase Chk2 2303083 MAMTS47_H protein-coding 4106123 CHEK2L1 CHK2 checkpoint homolog (S. pombe)-like 1 100133012 XM_001720889 XP_001720941 CHK2 checkpoint homolog (S. pombe)-like 1 protein-coding 1313214 CHERP calcium homeostasis endoplasmic reticulum protein 1580863 8896557,15146197,12477932,10794731,12234937 10523 NM_006387,AC008764,CH471106,AA782418,AB209730,AF536542,BC001552,BC021294,BC035039,CN336425,CR602259,U94836,Y08265,AK296883,AK298408 NP_006378,EAW84549,BAD92967,AAN77183,AAH21294,AAB53327,CAA69591,Q59ET1,Q8IWX8,BAG59444,BAG60636 Hs.727488 DAN16|SCAF6|SRA1 ERPROT 213-21|ERPROT213-21|SR-related CTD associated factor 6|SR-related CTD-associated factor 6|calcium homeostasis endoplasmic reticulum protein|protein with polyglutamine repeat protein-coding 1314932 CHFR checkpoint with forkhead and ring finger domains 18504434,10935642,19469003,19230025,19182791,18763281,18623126,18592005,18335050,18172500,18079053,17786301,17673375,17596595,17442268,17201143,16554732,15937956,15760919,15674323,15489334,15467728,15342556,15302856,15201973,14702039,14695171,14694445,14654793,14638868,14612512,14562038,12810945,12538348,12477932,12376479,12121644,11948416,11912157,19549727,20564104,11807090,16169070,15793587,20734064,20880844,19448676,19584075,19634111,19787237,20082478,20388495 55743 NM_018223,NM_001161344,NM_001161345,NM_001161346,NM_001161347,AC127070,CH471218,AF170724,AK001658,AK027687,AK054917,AK090948,AK097671,AK302785,AK304333,AL137561,BC012072,BP313700,CR625905 NP_060693,NP_001154816,NP_001154817,NP_001154818,NP_001154819,EAW54809,EAW54810,EAW54811,EAW54812,EAW54813,EAW54814,EAW54815,AAF91084,BAA91817,BAB55297,BAG53509,BAG63989,BAG65178,CAB70812,AAH12072,Q96EP1,ABM83158,ABM86359 Hs.29698 FLJ10796|FLJ33629|RNF116|RNF196 E3 ubiquitin-protein ligase CHFR|RING finger protein 196|checkpoint with forkhead and RING finger domains protein protein-coding 730836 CHGA chromogranin A (parathyroid secretory protein 1) The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Other peptides, including chromostatin, beta-granin, WE-14 and GE-25, are also derived from the full-length protein. However, biological activities for these molecules have not been shown. [provided by RefSeq] 1580863 20807312,9115255,8406464,19652998,19520754,19366853,19321999,19090560,19058139,19017515,18981630,18832606,18771509,18724010,18721831,18635750,18591442,18549351,18549247,18432188,18374882,18329114,18271679,18262756,18235090,18158567,18074379,18061980,18046660,17991725,17985422,17929277,17889508,17718510,17599769,17578828,17510497,17438154,17438153,17438105,17379958,17293489,17126478,17060047,17032650,17003646,16807684,16504480,16450720,16408221,16344560,16330879,16199891,16151967,16007257,15956083,15788643,15648545,15542860,15489334,15462496,15337252,14997482,14968443,14759560,14740315,14734634,12826904,12692477,12687271,12477932,12456801,12442257,12438141,12432071,12397377,12388744,12091348,11342539,9852066,9373149,8910482,8617499,8577930,8125298,8120054,8096340,7768066,3814131,3762065,3718511,3704195,3403545,2830133,2445752,2165909,1577173,19337629,19565071,19724850,19747727,19794299,19855234,19943077,20033364,20043075,20087896,20113265,20139771,20930149,21115933,12165659,20213742,20172008,20193177,20663522 1113 NM_001275,AL117192,CH471061,U03742,U03746,U03747,U03749,AK223381,AK313757,BC001059,BC006459,BC009384,BC012755,BT006869,BX248263,CR593864,CR596293,CR598626,CR599908,CR599984,CR602096,CR613413,CR616206,CR623573,CR623696,CR625447,DA201149,J03483,J03915 Q86T07,ABM82746,ABM85933,NP_001266,EAW81505,EAW81506,AAB53685,BAD97101,BAG36496,AAH01059,AAH06459,AAH09384,AAH12755,AAP35515,CAD62591,AAA52017,AAA52018,P10645 Hs.150793 CGA SP-I|betagranin (N-terminal fragment of chromogranin A)|chromogranin-A|parathyroid secretory protein 1|pituitary secretory protein I protein-coding 737067 CHGB chromogranin B (secretogranin 1) Chromogranin B is a tyrosine-sulfated secretory protein found in a wide variety of peptidergic endocrine cells. Chromogranin functions as a neuroendocrine secretory granule protein which may be the precursor for other biologically active peptides. [provided by RefSeq] 1580863 19913121,20628086,3608978,18180394,17143778,16807684,16199891,16169070,15489334,15219467,15138309,14997482,14506248,12826904,12692477,12477932,12438147,12165659,12133905,12091348,11959426,11931350,11854265,11780052,10391491,9588759,9373149,9199667,8125298,7891024,3970711,3678488,1882087,1769666,1518561,18721831,20007371,20011129,20359597,20431044,8889548,20888525,20932227 1114 AL035461,CH471133,AB209712,AK225125,AK289386,AK293536,AK312237,BC000375,CR456726,Y00064,NM_001819,BM681923,BP422638,DC312240 NP_001810,CAB55272,CAC34360,EAX10410,BAD92949,BAF82075,BAG57018,BAG35170,AAH00375,CAG33007,CAA68271,P05060,ABM82341,ABW03436,ACE87166,ACE86485 Hs.516874 SCG1 cgB|chromogranin-B|secretogranin B|secretogranin I|secretogranin-1|sgI protein-coding 732419 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) 1580863 20674561,20540736,20047081,9492324,9417865,9373149,9244440,8125298,2375755,20538957,20650887,20640910,20840668,10461474,8245017,19536175,19421404,19264973,19255724,19106306,19089918,19070929,19003601,18957531,18802121,18767121,18723551,18708058,18650368,18615353,18570155,18490894,18480670,18403759,18281018,18280741,18217402,18190830,18182077,18157633,18092325,18054022,17957792,17712177,17631744,17599744,17565739,17545529,17543889,17236752,17160890,17020973,16960935,16955240,16818690,16344560,16234240,15867231,15829322,15788675,15569925,15489334,14702039,14555515,12957359,12933821,12851408,12799184,12775711,12759455,12477932,12435396,12124825,12071845,12069012,11986266,10772238,10515841,20012147,20499402,19197227,19200605,19308408,19550125,19568425,19644363,19666003,19694834,19701838,19765801,19767768,19961288,20051317,20099501,20224722,20226308,20237129,20300754,20356987,20424473,20056225,20174854,20347092,20800603,20926018 1116 NM_001276,AC105940,AJ251847,CH471067,Y08374,Y08378,AB209459,AK095458,AK130142,AK130200,AK225266,AK225584,AK312911,BC008568,BC034684,BC038354,BC039132,BT007223,BX648308,CR602274,CR623103,DA167112,M80927,NG_013056 NP_001267,CAB76472,EAW91467,EAW91468,CAA69661,BAD92696,BAG53058,BAG35757,AAH08568,AAH38354,AAH39132,AAP35887,AAA16074,P36222,Q59FK1,Q9NY41,ABM81703,ABM84863,ACE87208,ACE86529 Hs.382202 ASRT7|CGP-39|DKFZp686N19119|FLJ38139|GP-39|GP39|HC-gp39|HCGP-3P|YKL-40|YKL40|YYL-40|hCGP-39 39 kDa synovial protein|cartilage glycoprotein 39|chitinase-3-like protein 1 protein-coding 1350449 CHI3L2 chitinase 3-like 2 1580863 8702629,18029348,16341674,12477932,12435396,9373149,8125298,20379614 1117 CR626113,U49835,U58514,U58515,NM_001025197,NM_001025199,AL513202,CH471122,AK223316,AK298466,BC011460,BG698401,BM787868,BQ181849,BT006767,CR597779,CR599276,CR603396,CR608464,CR610069,NM_004000,CR623620,CR625467 AAC50597,AAB04533,AAB04534,Q15782,Q53FH2,ABM84631,NP_003991,NP_001020368,NP_001020370,CAH70799,EAW56480,EAW56481,BAD97036,BAG60679,AAH11460,AAP35413 Hs.514840 YKL-39|YKL39 chitinase-3-like protein 2|chondrocyte protein 39 protein-coding 1604020 CHIA chitinase, acidic 19242357,11085997,10548734,19379605,19342690,19258923,19247692,18824549,18602573,17703412,16584180,15489334,15192232,12971947,12477932,19085022,19435888,19644363,20226308,20422678,20444155,20503287,20538957,20800603 27159 NM_201653,AL356387,AL513202,CH471122,AB025008,AB025009,AF290004,AK098814,AK290702,AY789444,AY789445,AY825504,AY911310,AY911311,BC036339,NM_021797,BC047336,BC106910,BC139901,BC139920 NP_068569,NP_970615,CAI19263,CAI19265,CAI19266,CAH70802,CAH70803,CAH70804,EAW56485,EAW56486,EAW56487,EAW56488,BAA86980,BAA86981,AAG60019,BAF83391,AAX81431,AAX81432,AAX54833,AAX81433,AAX81434,AAH36339,AAH47336,AAI06911,AAI39902,AAI39921,Q1M0P3,Q1M0P4,Q2VT96,Q5VUV3,Q5VUV5,Q9BZP6 Hs.128814 AMCASE|CHIT2|DKFZp313J1722|TSA1902 OTTHUMP00000012864|OTTHUMP00000012865|OTTHUMP00000012866|acidic mammalian chitinase|lung-specific protein TSA1902 protein-coding 1349014 CHIC1 cysteine-rich hydrophobic domain 1 15772651,15489334,12477932,11257495,9321471 53344 Y11897,NM_001039840,AL356513,AL358796,CH471104,AK057786,AK295903,AK297768,AL832095,BC050300,BC127727,BC127728,BC136691,BC136692,CR627010,CR936642,DC382882 Q5VXU3,NP_001034929,CAQ07633,CAQ10983,EAW98663,BAH12217,BAH12661,AAI27728,AAI27729,AAI36692,AAI36693,CAI56782 Hs.496323 BRX|DKFZp313P1931|DKFZp686F2342 brain X-linked protein|cystein-rich hydrophobic domain 1|cysteine-rich hydrophobic domain 1 protein protein-coding 1319536 CHIC2 cysteine-rich hydrophobic domain 2 This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq] 1580863 19118897,16189514,15489334,12842979,12477932,11257495,10477709,19060904 26511 NM_012110,AC110792,CH471057,AF159423,AK312427,BC034691,BI828538,CR611915,CR624224 NP_036242,EAX05453,AAD55981,BAG35336,AAH34691,Q9UKJ5,ABM81637,ABM84819 Hs.335393 BTL|MGC21173 BRX-like translocated in leukemia|OTTHUMP00000218650|OTTHUMP00000218651|OTTHUMP00000218652|cystein-rich hydrophobic domain 2|cysteine-rich hydrophobic domain 2 protein protein-coding 1604307 CHID1 chitinase domain containing 1 20379614,19275751,16357325,16344560,16303743,15489334,14702039,12477932,9373149,8125298,17207965,20724479 66005 NM_023947,NM_001142674,NM_001142675,NM_001142676,NM_001142677,AP006623,CH471158,CQ893561,CS051217,AF212229,AK027711,AK075413,AK124697,AK225025,AK225398,AK297743,AK301245,AY037151,BC000001,BC013642,BC095409,BI759317,BI818660,BI821281,BN000479,CK904484,DA983719,FB746685 NP_076436,NP_001136146,NP_001136147,NP_001136148,NP_001136149,EAX02413,EAX02414,EAX02415,CAH68702,CAI72104,AAK14915,BAB55316,BAC11603,BAG54072,BAG60093,BAH13441,AAK67632,AAH00001,AAH13642,AAH95409,CAF32458,Q9BWS9,ADQ32365,CAV31088 Hs.144468 FLJ42707|GL008|MGC3234|SI-CLP chitinase domain-containing protein 1|stabilin-1 interacting chitinase-like protein|stabilin-1-interacting chitinase-like protein protein-coding 1313797 CHIT1 chitinase 1 (chitotriosidase) Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. [provided by RefSeq] 1580863 15702402,15489334,15342556,15218258,14702039,14551607,12893688,12482412,12477932,12221666,11960986,9492324,9373149,8125298,7836450,7592832,19925532,20797781,20800603,16107886,9748235,9402970,19536175,18845328,18609101,18355455,18324378,18190830,18069420,18068392,18054022,17976376,17916351,17765019,17693102,17464953,17460177,17291472,17290100,17136386,17106626,17075695,16848812,16712652,16110781,19913121,20628086,20538957,19347743,19415692,19644363,19725875,19808030,19881466,19958755,20178893,20226308,20331735,20422678,20580583,19242357,20819891 1118 NM_003465,AC105940,CH471067,AK055165,AK131093,AK225245,AK309341,AK314331,BC069614,BC103695,BC105680,BC105681,BC105682,BP304256,BQ029424,U29615,U62662,NG_012867 NP_003456,EAW91469,EAW91470,EAW91471,BAG51478,BAC85143,AAH69614,AAI03696,AAI05681,AAI05682,AAI05683,AAC50246,AAG10644,Q13231,Q6ZNK1 Hs.201688 CHI3|CHIT|FLJ00314|MGC125322 OTTHUMP00000217083|OTTHUMP00000217084|OTTHUMP00000217085|chitinase-1|chitotriosidase-1|plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase protein-coding 1604072 CHKA choline kinase alpha The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19737740,19855431,19915674,20042122,20299452,10363580,19448670,19156696,18296102,18172309,17184542,16820874,15489334,15003397,14702039,12477932,12176020,12082619,12062430,11840339,9113621,9038210,8069533,1618328,208357,36885,21048031,20662904 1119 NM_212469,NM_001277,AP002807,AP002992,CH471076,AI809679,AK054792,AK092643,AL834403,BC036471,BE260889,BG703955,BG723115,BI195927,BU617910,D10704 NP_997634,NP_001268,EAW74694,EAW74695,EAW74696,AAH36471,BAA01547,P35790 Hs.77221 CHK|CK|CKI|EK CHETK-alpha|choline kinase alpha|ethanolamine kinase protein-coding 1604071 CHKB choline kinase beta Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. At least two transcript variants encoding two different isoforms have been found for this gene, and one of the transcripts is bicistronic. [provided by RefSeq] 19404393,18996102,18820697,15489334,15461802,15003397,14702039,12477932,11258795,10918069,10706593,9487136,9370318,19913121,20602615,20628086,16344560,19915674,20299452,20651826,20716336 1120 BC082263,BC101488,BC113521,BE676287,CR456419,CR600292,AB003286,AB029885,CH471138,U62317,AB029886,AK097775,AK314324,AL096780,AL096781,BC024286,BC037162,BC050443,BC056404,NM_005198,DB106393,CR619131,CR607964,CR624842,CR592308,CR601717 AAH82263,AAI01489,AAI13522,CAG30305,O15094,Q9Y259,CAK54411,CAK54710,NP_005189,BAA21491,BAA82511,EAW73573,EAW73574,EAW73575,AAB03342,BAA82512,BAG36972,CAB46629,CAB46630,ADR82980 Hs.654827 CHETK|CHKL|CK|CKB|CKEKB|EK|EKB CK|CKB|EK|OTTHUMP00000196839|choline kinase-like protein|choline/ethanolamine kinase|choline/ethanolamine kinase beta|ethanolamine kinase beta protein-coding 1346370 CHL1 cell adhesion molecule with homology to L1CAM (close homolog of L1) The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. Several alternatively spliced transcript variants of this gene have been described, but their full length nature is not known. [provided by RefSeq] 1580863,1358505 9799093,19064572,17592550,16597699,16335952,15704102,15653271,15489334,12477932,11986985,10508992,20634891,19509545,20298200,20379614,20339536 1358505 10752 NM_006614,AC011609,AC026187,AC066595,CH471055,AB209329,AF002246,AK126878,BC104918,BC143496,BC143498,BF056756 NP_006605,EAW63868,EAW63869,BAD92566,AAB60937,BAG54387,AAI04919,AAI43497,O00533 Hs.148909 CALL|FLJ44930|L1CAM2|MGC132578 L1 cell adhesion molecule 2|cell adhesion molecule L1-like|cell adhesion molecule with homology to L1CAM (close homologue of L1)|close homolog of L1|neural cell adhesion molecule L1-like protein protein-coding 732475 CHM choroideremia (Rab escort protein 1) This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. 704419,1580863,704404 8380507,7981670,19597113,19427510,19422966,19376587,18773267,18532927,18487380,18385043,18087237,18029348,17698759,16936131,16087855,15772651,15579993,15465555,15242790,15186776,14702039,14566650,12827496,12620235,12576024,12535645,12477932,11886217,11297488,11141079,10022613,9563513,9437002,8294464,7957092,7951216,2220804,2215697,1904992,1598901,1549574,1373238,1302003,19764077,20027300,8477262 704419 1121 X78121,NM_001145414,NG_009874,AL009175,AL022401,AL035451,AL138748,CH471104,S37423,AK095883,AK291160,AK299323,AK312443,AY255796,BC032237,BC063522,BC065702,BC073987,BC105969,BC130494,BC130496,M83773,X57637,NM_000390,FB775572 CAA40855,CAA55011,P24386,Q8N917,AAI56458,AAI72532,NP_000381,NP_001138886,CAI42097,CAI42098,CAI42042,CAI42043,EAW98559,AAD13814,BAC04640,BAF83849,BAG61331,AAP15253,AAH65702,AAH73987,AAI05970,AAI30495,AAI30497,AAA61032,CAI43163,CAV30743 Hs.496449 DXS540|FLJ38564|GGTA|HSD-32|MGC102710|REP-1|TCD Rab geranylgeranyltransferase component A|choroideraemia protein|rab escort protein 1|rab proteins geranylgeranyltransferase component A 1 protein-coding 1313260 CHML choroideremia-like (Rab escort protein 2) The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq] 1580863 19626040,1301160,18344558,16710414,16344560,16341674,15489334,15146197,14702039,12535645,12477932,12242008,11056004,9730828,8294464,8188272,7981670,7592656,16712791 1122 NM_001821,AF482426,AL133390,CH471098,AK000933,AK023423,AK314125,BC117360,BG108374,BI088411,BM457359,BM470658,BM557064,BM763291,BM806625,BQ775652,BU187416,BU195066,CB160778,CN415289,DA612361,X64728 NP_001812,AAO15716,CAC19784,EAW70100,BAG36816,AAI17361,CAA45979,P26374 Hs.654545 FLJ10071|FLJ13361|REP2 REP-2, Rab escort protein 2|choroideraemia-like protein|rab escort protein 2|rab proteins geranylgeranyltransferase component A 2 protein-coding 1346526 CHMP1A chromatin modifying protein 1A This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. [provided by RefSeq] 8863740,17928862,11559747,9837962,11559748,18787405,17711858,15489334,14519844,14505570,14505569,12477932,12445808,7584044,17353931,16730941,19640981,16760479 5119 NM_001083314,NM_002768,AC010538,CH471184,AF281063,AK302055,BC007527,BC010000,BC132711,BC132713,BG480548,BI826757,BT006841,CR599295,CR613704,CR618565,CR620879,D38554,U58048 NP_001076783,NP_002759,EAW66715,EAW66716,EAW66717,AAG01448,BAG63445,AAH10000,AAI32712,AAI32714,AAP35487,BAA07557,AAC50775,Q9HD42,ADR82857 Hs.589427 CHMP1|KIAA0047|PCOLN3|PRSM1|VPS46-1|VPS46A|Vps46A charged multivesicular body protein 1/chromatin modifying protein 1|charged multivesicular body protein 1a|chromatin-modifying protein 1a|hVps46-1|procollagen (type III) N-endopeptidase|protease, metallo, 1, 33kD|vacuolar protein sorting-associated protein 46-1|vps46-1 protein-coding 1603626 CHMP1B chromatin modifying protein 1B CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17207965,17928862,19328558,18997780,17711858,16730941,16174732,15537668,15489334,14519844,14505570,14505569,12477932,11559748,11559747,11474171,16094257,16760479 57132 NM_020412,AF306520,AP005137,CH471113,AF281064,AK314068,BC012733,BC065933,BX494191,CR595721,CR595824,CR600805,CR609374,CR609924,CR616002,CR618865,CR626295 ADQ33194,NP_065145,AAL48200,EAX01575,AAG01449,BAG36769,AAH12733,AAH65933,Q7LBR1 Hs.656244 C10orf2|C18-ORF2|C18orf2|CHMP1.5|Vps46-2|Vps46B charged multivesicular body protein 1b|chromatin-modifying protein 1b|hVps46-2|vacuolar protein sorting 46-2|vacuolar protein sorting-associated protein 46-2 protein-coding 1603659 CHMP2A chromatin modifying protein 2A CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17159328,16760479,17928862,18687924,16730941,16565220,15489334,15173323,14702039,14519844,14505570,14505569,12665801,12477932,11559748,20708039 27243 NM_198426,AC016630,AJ277113,CH471135,AF042384,AK092868,AK311974,AY364248,BC002502,BC047005,BE856471,BG546479,BI457978,BT007298,BU147101,CR457002,NM_014453 NP_055268,NP_940818,CAC14310,EAW72608,EAW72609,EAW72610,EAW72611,AAC00005,BAG34913,AAQ76807,AAH02502,AAP35962,CAG33283,O43633,ABM83513,ABM86731 Hs.12107 BC-2|BC2|CHMP2|VPS2|VPS2A VPS2 homolog A|charged multivesicular body protein 2a|chromatin-modifying protein 2a|hVps2-1|putative breast adenocarcinoma marker (32kD)|putative breast adenocarcinoma marker BC-2|vacuolar protein sorting-associated protein 2-1|vps2-1 protein-coding 1603668 CHMP2B chromatin modifying protein 2B This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq] 20420883,17928862,11256614,19202337,19179627,19150442,19091059,18270236,17956895,17353931,16979267,16964243,16941655,16807408,16730941,16565220,16431024,16344560,16341674,16189514,16041373,15489334,15223008,14702039,14519844,18029348,20223751,14505570,14505569,12477932,11559748,11230166,10810093,10436350,9373149,8889548,8541850,8125298,16169070,19706893,20352044,20412296,20472325,20625756 25978 NM_014043,NG_007885,AC123511,AC130885,CH471110,AF151842,AK002165,AK002180,AK222654,AK296072,AK316585,AL080122,BC001553,BM828410,BM982148,CR533456,CR608494,DA426159 NP_054762,EAW68868,AAD34079,BAG51022,BAG51025,BAD96374,BAG38173,BAG58830,CAB45721,AAH01553,CAG38487,Q9UQN3,ACE87471,ACE86785 Hs.476930 CHMP2.5|DKFZp564O123|DMT1|VPS2-2|VPS2B OTTHUMP00000213812|OTTHUMP00000213813|VPS2 homolog B|charged multivesicular body protein 2b|chromatin-modifying protein 2b|hVps2-2|vacuolar protein sorting-associated protein 2-2|vacuolar protein-sorting-associated protein 2-2 protein-coding 1342527 CHMP4A chromatin modifying protein 4A CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 12477932,11042152,20888838,17350572,18511562,18209100,17547705,16730941,16189514,15632132,15489334,14678797,14583093,14519844,14505570,14505569,12860994,8889548 29082 NM_014169,AL096870,AL136295,CH471078,AB100262,AF161483,AF212243,AW732226,AY329084,BC010893,BC107699,BC113533,BC113535,BC143834,CR624796,BM041056,CB241867 NP_054888,EAW66065,EAW66066,EAW66067,EAW66068,BAC79376,AAF29098,AAK14928,AAQ91193,AAH10893,AAI07700,AAI13534,AAI13536,Q14D22,Q9BY43,ADR82892 Hs.279761 C14orf123|CHMP4|CHMP4B|FLJ61658|HSPC134|MGC142093|MGC142095|SHAX2|SNF7|SNF7-1|Shax2|VPS32-1|VPS32A SNF7 homolog associated with Alix-2|Snf7 homologue associated with Alix 2|charged multivesicular body protein 4a|chromatin-modifying protein 4a|chromosome 14 open reading frame 123|hSnf-1|hVps32-1|vacuolar protein sorting-associated protein 32-1|vps32-1 protein-coding 1320409 CHMP4B chromatin modifying protein 4B CHMP4B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 19016654,18511562,18209100,18190528,12477932,17701905,17428861,16730941,16189514,15511219,15489334,15007060,14678797,14583093,14519844,14505570,14505569,12860994,11780052 128866 NM_176812,AL050349,CH471077,AB100261,AY329085,AY726594,BC033859,BQ926070,CR592058,CR594629,CR601594,CR607577,CR610271,CR611521,CR615467,CR615678,CR616273,CR623996,CR625458,BU150721,CT001913,NG_015820 NP_789782,CAC14088,EAW76293,EAW76294,BAC79375,AAQ91194,AAH33859,Q9H444 Hs.472471 C20orf178|CHMP4A|CTPP3|SNF7|SNF7-2|Shax1|VPS32B|Vps32-2|dJ553F4.4 SNF7 homolog associated with Alix 1|Snf7 homologue associated with Alix 1|charged multivesicular body protein 4b|chromatin-modifying protein 4b|chromosome 20 open reading frame 178|hSnf7-2|hVps32-2|vacuolar protein sorting-associated protein 32-2|vacuolar protein-sorting-associated protein 32-2 protein-coding 1606751 CHMP4C chromatin modifying protein 4C CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17711858,18511562,16730941,15489334,14678797,14583093,14519844,14505570,14505569,12860994,12477932 92421 NM_152284,AC132219,CH471068,AB120734,AK000049,AK314873,AY329086,BC014321,BQ778244,BX492886 NP_689497,EAW87107,BAC87888,BAG37388,AAQ91195,AAH14321,Q96CF2 Hs.183861 MGC22825|SNF7-3|Shax3|VPS32C SNF7 homolog associated with Alix 3|Snf7 homologue associated with Alix 3|charged multivesicular body protein 4c|chromatin-modifying protein 4c|hSnf7-3|hVps32-3|vacuolar protein sorting-associated protein 32-3|vps32-3 protein-coding 1314312 CHMP5 chromatin modifying protein 5 CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17855796,17353931,17711858,16730941,16189514,15644320,15489334,15164053,14519844,14505570,14505569,12477932,11559748,11042152,10810093,17708794,18426649,20932654 51510 AI128062,NM_001195536,NM_016410,AL356472,CH471071,AF132968,AF161525,AF229832,AF275810,AK024753,AK295744,AK315455,BC006974,BC007457,BC016698,BC018603,BC020796,BC021168,CR592776,CR596621,CR601311,CR606161,CR621695 NP_001182465,NP_057494,CAH72744,EAW58512,EAW58513,AAD27743,AAF29140,AAF42917,AAG23821,BAG58578,BAG37842,AAH06974,AAH07457,AAH16698,AAH20796,AAH21168,Q9NZZ3,ABM84105,ABM87478,ABM87479 Hs.635313 C9orf83|CGI-34|HSPC177|PNAS-2|SNF7DC2|Vps60 SNF7 domain containing 2|SNF7 domain-containing protein 2|apoptosis-related protein PNAS-2|charged multivesicular body protein 5|chromatin-modifying protein 5|chromosome 9 open reading frame 83|hVps60|vacuolar protein sorting-associated protein 60 protein-coding 1606234 CHMP6 chromatin modifying protein 6 CHMP6 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 16371348,17353931,16730941,15511219,15489334,15342556,14702039,14583093,14519844,14505570,14505569,12477932,11559748,9373149,8125298,17207965,18606141,19270365,19686684 79643 NM_024591,AC127496,CH471099,AK021811,AK223187,AK292105,AY329087,BC010108,BP196406,CR457284 NP_078867,EAW89622,BAB13901,BAF84794,AAQ91196,AAH10108,CAG33565,Q96FZ7,BAD96907,ADQ33148 Hs.514560 FLJ11749|VPS20 charged multivesicular body protein 6|chromatin-modifying protein 6|hVps20|vacuolar protein sorting-associated protein 20 protein-coding 1602310 CHMP7 CHMP family, member 7 16856878,17711858,16964243,16344560,16189514,15489334,14702039,12477932,19773279 91782 NM_152272,AC100861,CH471080,AK021776,AK092500,AK097202,AK296592,AK315664,AL832313,AL833843,BC004344,BC019110,BC042050,CR606249,CR620549,DB140277 NP_689485,EAW63631,EAW63632,EAW63633,EAW63634,BAG51048,BAG52561,BAG53432,BAG59208,BAG38030,CAD38703,AAH04344,AAH19110,AAH42050,Q8WUX9 Hs.5019 MGC29816 OTTHUMP00000162592|charged multivesicular body protein 7|chromatin-modifying protein 7 protein-coding 732086 CHN1 chimerin (chimaerin) 1 This gene encodes GTPase-activating protein for p21-rac and a phorbol ester receptor. It plays an important role in ocular motor axon pathfinding. Heterozygous missense mutations in this gene cause Duane's retraction syndrome 2 (DURS2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20535495,8336731,18826946,18653847,18249095,17197533,17197532,16344560,15815621,15761153,15489334,15013773,14702039,12477932,11438594,10577917,8496137,7867622,2299665,2268301,1445199,16169070,19541263,20034095,20379614,20468071 1123 NM_001822,NM_001025201,AC007435,AC018890,AC020596,CH471058,S75654,AB209788,AK055060,AK289941,AK300890,BC011393,BQ893027,CR456864,CR598099,CR603631,CR624856,DA516095,DB453430,DB548770,X51408,Z22641,NG_012642 NP_001813,NP_001020372,AAY14688,AAY14940,EAX11117,EAX11118,EAX11119,EAX11120,EAX11121,AAB33506,BAD93025,BAG51458,BAF82630,BAG62531,AAH11393,CAG33145,CAA35769,CAA80354,P15882,Q59EM3,Q6IBE0,ABM92230,ABM84710 Hs.380138 ARHGAP2|CHN|DURS2|RHOGAP2 A-chimaerin|N-chimaerin|NC|Rho GTPase-activating protein 2|a2-chimaerin|alpha-chimerin|n-chimerin protein-coding 1350256 CHN2 chimerin (chimaerin) 2 This gene is a member of the chimerin family and encodes a protein with a phorbol-ester/DAG-type zinc finger, a Rho-GAP domain and an SH2 domain. This protein has GTPase-activating protein activity that is regulated by phospholipid binding and binding of diacylglycerol (DAG) induces translocation of the protein from the cytosol to the Golgi apparatus membrane. The protein plays a role in the proliferation and migration of smooth muscle cells. Decreased expression of this gene is associated with high-grade gliomas and breast tumors, and increased expression of this gene is associated with lymphomas. Mutations in this gene have been associated with schizophrenia in men. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 20602751,7614486,8175705,19306875,19201754,18519826,18249095,17803461,17560670,16525710,16428439,16352660,16344560,15863513,15761153,15653288,15507211,15489334,14702039,12877655,12853948,12716467,12690205,12477932,11689559,11278894,10518540,9334226,16169070,16628218,19720790,19911011,20335173,20379614,20460425,20818722 1124 NM_001039936,AC004417,AC004593,AC007255,CH236948,CH471073,AA521339,AF147327,AK026415,AK123927,AK124021,AK126784,AK293959,AK294032,AK294216,AK294271,AK301235,AK313021,AK316030,NM_004067,BC112155,BQ446523,DA096970,DA105459,EU732750,EU732751,EU732752,EU732753,EU732754,EU732755,EU732756,EU732757,EU732758,EU732759,EU732760,EU732761,EU732762,EU732763,EU732764,EU732765,EU732766,U28926 NP_004058,NP_001035025,AAC06177,AAS02045,AAS07498,EAL24205,EAW93919,BAH11636,BAH11655,BAH11701,BAH11718,BAH13437,BAG35856,Q75MY2,AAI12156,ACF04987,ACF04988,ACF04989,ACF04990,ACF04991,ACF04992,ACF04993,BAH14401,ACF04994,ACF04995,ACF04996,ACF04997,ACF04998,ACF04999,ACF05000,ACF05001,ACF05002,ACF05003,AAA86528,P52757 Hs.654611,Hs.654753,Hs.663145,Hs.710429 ARHGAP3|BCH|MGC138360|RHOGAP3 OTTHUMP00000202260|beta chimerin|beta-chimaerin|beta-chimerin|rho GTPase-activating protein 3|rho-GTPase-activating protein 3 protein-coding 1320469 CHODL chondrolectin This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. [provided by RefSeq] 1580863 12079284,17606388,15489334,14702039,12975309,12621022,12477932,11707072,10830953 140578 AF257472,AF523313,AF523314,AF523315,AK296009,AK313725,AY358608,BC009418,HC466499,NM_024944,AL078474,CH471079,GM879243 AAL05981,AAP43902,AAP43903,AAP43904,BAG58780,BAG36467,AAQ88971,AAH09418,Q9H9P2,ABM84183,ABM87585,CBL54341,NP_079220,EAX10018,CAV13390 Hs.283725 C21orf68|FLJ12627|MT75|PRED12 OTTHUMP00000083250|OTTHUMP00000083251|OTTHUMP00000083252|OTTHUMP00000083253|chondrolectin|transmembrane protein MT75 protein-coding 1312263 CHORDC1 cysteine and histidine-rich domain (CHORD)-containing 1 12477932,10571178,9373149,8125298,20800603,12965203,14702039,15642353,16083881,16344560,19875381,8889548,17207965 26973 NM_012124,AP002364,BX537692,CH471065,AF123249,AF192466,AF217505,AK225365,AK225565,AK226099,AK290231,AK312663,BC002339,BC017789,BC072461,CR604269,CR613194,CR623645,AK094608,AP000648,CB852298,CF146721,CK300454,DA417105,NM_001144073 NP_036256,EAW66867,EAW66868,EAW66869,EAW66870,EAW66871,AAG43237,AAF18437,AAF67616,BAF82920,BAG35545,AAH17789,AAH72461,Q9NZ93,Q9UHD1,NP_001137545,ADQ32065 Hs.22857 CHP1|FLJ37289 CHORD-containing protein 1|CHP-1|chord domain-containing protein 1|cysteine and histidine-rich domain (CHORD)-containing 1|cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1|cysteine and histidine-rich domain-containing protein 1|protein morgana protein-coding 1343985 CHORDC2P cysteine and histidine-rich domain (CHORD)-containing 2 pseudogene 317775 NG_002473,AL137230 pseudo 736499 CHP calcium binding protein P22 This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq] 21085126,8901634,18029348,19165527,18815128,18628988,17050540,16511206,15489334,15312048,15035633,14702039,12576672,12477932,12226101,12204119,11481038,11350981,10593895,8626580,7829101,16169070,16341674 11261 CR536539,NM_007236,AC012652,CH471125,AK000095,AK094363,AK299660,AK307060,AK312582,AV761136,BC008373,BC031293,BE250654,BG398684,BI491312,BM828547,BQ213482,BX391712,CR542085,CR613629,U61538 NP_009167,EAW92474,EAW92475,EAW92476,EAW92477,BAG61577,BAG35476,AAH31293,CAG38776,CAG46882,AAB37770,Q99653 Hs.406234,Hs.706184 SLC9A1BP SLC9A1 binding protein|calcineurin B homolog|calcineurin homologous protein|calcium-binding protein CHP|calcium-binding protein p22 protein-coding 1606515 CHP2 calcineurin B homologous protein 2 17708351,16710297,12576672,12226101,12097419,10493829,8901634,18718049 63928 NM_022097,AC012317,AC130454,CH471145,AF146019,AK290253,AK313062 NP_071380,EAW55800,EAW55801,AAG14945,BAF82942,BAG35891,O43745,AAI52867 Hs.178589 calcineurin B homologous protein 2|hepatocellular carcinoma antigen gene 520|hepatocellular carcinoma-associated antigen 520 protein-coding 1603198 CHPF chondroitin polymerizing factor 16169070,15231747,15489334,15231748,14702039,12975309,12761225,12716890,12477932,11230166,20729547 79586 DC341343,NM_001195731,NM_024536,AC009955,CH471063,AB086063,AB095813,AK026331,AK302124,AL136814,AY358403,BC008878,BC021223,BC023531,CR607445,CR625437 NP_001182660,NP_078812,EAW70764,EAW70765,EAW70766,EAW70767,EAW70768,EAW70769,EAW70770,BAC81536,BAC78393,BAB15449,BAG63502,CAB66748,AAQ88769,AAH08878,AAH21223,AAH23531,Q8IZ52 Hs.516711 CHSY2|CSS2|FLJ22678 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II|N-acetylgalactosaminyltransferase 2|chondroitin glucuronyltransferase 2|chondroitin sulfate synthase 2|chondroitin-polymerizing factor|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II protein-coding 1604004 CHPF2 chondroitin polymerizing factor 2 18316376,15489334,14702039,12975309,12477932,12145278,10718198 54480 NM_019015,AACC02000108,AC021097,CH471173,AB037823,AB095812,AK025885,AK025897,AK056331,AY358407,BC052944,BC064509,CR608791 NP_061888,EAL24509,EAW54010,EAW54011,EAW54012,BAA92640,BAG30817,BAG51678,AAQ88773,AAH64509,Q9P2E5 Hs.647084 CSGLCA-T|CSGlcAT|ChSy-3|KIAA1402 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase|OTTHUMP00000212170|chPF-2|chondroitin glucuronyltransferase|chondroitin sulfate glucuronyltransferase|chondroitin synthase 3|chondroitin synthase-3 protein-coding 1349185 CHPT1 choline phosphotransferase 1 1580863 10893425,16303743,15936720,14702039,12477932,12359261 56994 CR590259,AC010205,NM_020244,AC063950,CH471054,CQ784008,AF047431,AF111803,AF195623,AF195624,AK075211,AK093067,AK226127,AY166717,AY166718,AY280609,AY280610,AY294627,BC020819,BC050429,CD300296,CR591873,CR592188,CR596586,CR603077,CR608650,CR621563,CR624037 NP_064629,EAW97673,EAW97674,EAW97675,EAW97676,EAW97677,CAF86967,AAD44019,AAL39005,AAF87947,AAF87948,BAG52084,BAG52647,AAN86122,AAN86123,AAP34412,AAP34413,AAP37157,AAH20819,AAH50429,Q8WUD6 Hs.293077 CPT|CPT1 AAPT1-like protein|cholinephosphotransferase 1|cholinephosphotransferase 1 alpha|diacylglycerol cholinephosphotransferase 1|hCPT1|phosphatidylcholine synthesizing enzyme protein-coding 1354352 CHR chromate resistance; sulfate transport 7177110,9732752 1125 1319606 CHRAC1 chromatin accessibility complex 1 CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM] 1580863 10880450,16344560,15489334,14702039,12477932,12434153,11000277 54108 NM_017444,NR_023360,AC107375,CH471060,AF226076,AK023537,AK308709,AL543044,BC015891,CR590458,CR605303,DA647606 NP_059140,EAW92206,AAF72416,BAB14601,AAH15891,Q9NRG0,ABM86546,ABW03665 Hs.279704 CHARC1|CHARC15|CHRAC15|YCL1 CHRAC-1|CHRAC-15|DNA polymerase epsilon subunit p15|chromatin accessibility complex 15 kDa protein|chromatin accessibility complex protein 1|histone-fold protein CHRAC15|huCHRAC15 protein-coding 1348275 CHRD chordin This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq] 1580863 16449796,11472837,11790302,9782094,19453261,19058174,19023570,18533030,16713569,15489334,14759258,12975309,12477932,11992721,11260715,10648240,10480362,10479448,9110174,8619474,15775969,19913121,20628086,15064755,17474147 8646 NM_003741,AC078797,AF136632,AF136633,AF136634,AF136635,CH471052,AB208947,AF038198,AF076612,AF209928,AF209929,AF209930,AF283325,AK074147,AK293456,AK295632,AK296316,AK300213,AK300476,AY358926,BC029879,BC112345 NP_003732,AAF70236,AAF70237,AAF70238,AAF70239,EAW78239,EAW78240,EAW78241,EAW78242,BAD92184,AAC69835,AAG35767,AAG35768,AAG35769,AAG35784,BAB84973,BAH11513,BAH12133,BAH12312,BAH13240,BAH13292,AAQ89285,AAH29879,AAI12346,Q59H12,Q8N2W7,Q8TEH7,Q9H2X0 Hs.166186 MGC133038 chordin protein-coding 1349204 CHRDL1 chordin-like 1 This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 15621726,17029022,18587495,15772651,15489334,15342556,14702039,12477932,11441185,11118896,17881565,19357253,20130390 91851 NM_001143981,NM_001143982,NM_145234,AL049176,AL591489,CH471120,AB209548,AK092245,AK293106,AK297563,AK312270,AY608914,BC002909,BP377491,CR604833,CR623913,NM_001143983,AA057564,AY608913,DC404314,NG_012816 NP_001137455,NP_001137453,NP_001137454,NP_660277,CAI42037,CAI42038,CAI41336,CAI41337,EAX02655,EAX02656,EAX02657,BAD92785,BAG52508,BAF85795,BAG59955,AAU25841,AAH02909,Q59FB2,Q9BU40 Hs.496587 CHL|NRLN1|VOPT|dA141H5.1 OTTHUMP00000023853|OTTHUMP00000023854|OTTHUMP00000216338|chordin-like protein 1|neuralin 1|neuralin-1|neurogenesin-1|ventroptin protein-coding 1314650 CHRDL2 chordin-like 2 19453261,15340161,15094188,14660436,12975309,12853144,12477932,18029348 25884 AP001324,CH471076,AF332891,AK304519,AL047873,AL110168,AY163868,AY279090,AY279091,AY279092,AY279093,AY279094,AY358522,BC142623,NM_015424 AAI41565,NP_056239,EAW74944,EAW74945,AAG50288,BAG65323,CAB53666,AAO31809,AAQ19179,AAQ19180,AAQ19181,AAQ19182,AAQ19183,AAQ88886,AAI42624,Q6WN33,Q6WN34,Q9BZ90,Q9UG17,AAI53101 Hs.432379 BNF1|CHL2|DKFZp586N2124|FKSG37 BNF-1|breast tumor novel factor 1|chordin-like protein 2|chordin-related protein 2 protein-coding 1351978 CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq] 19462340,19149910,19082523,17192894,17012698,16823804,16572171,16417613,15885267,15489334,14729617,12477932,11829490,11424985,9782083,19631623,19641318,20351714 89832 NM_148911,NM_139320,AC019322,AF332759,AY641831,AF029838,AF029839,AF036903,AK292984,BC101345,BC101346,BC101347,BC101348,BQ720423,CR605947,AF037646 NP_683709,NP_647536,AAT81394,BAF85673,AAI01346,AAI01347,AAI01348,AAI01349,Q494W8,Q693P7 Hs.510853 CHRNA7|CHRNA7-DR1|D-10|MGC120482|MGC120483 CHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion|CHRNA7-FAM7A fusion protein|alpha 7 neuronal nicotinic acetylcholine receptor-FAM7A hybrid|alpha-7 nicotinic cholinergic receptor subunit|chrna7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and fam7a (family with sequence similarity 7a, exons a-e) fusion protein-coding 2902850 CHRFAM7AP1 CHRFAM7A pseudogene 1 12815422,9847074 359999 AC006328,NG_004755 pseudo 2902897 CHRFAM7AP2 CHRFAM7A pseudogene 2 12815422 359998 AC012005,NG_004755 pseudo 731068 CHRM1 cholinergic receptor, muscarinic 1 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq] 734777,1580863 19913121,20602615,20628086,15452121,16318751,18240029,18317461,18790604,19404243,19451648,19753311,19863190,19874574,19927300,20133736,20201926,20237496,18322150,18282687,18272392,18249005,18073210,17655760,17540859,17462859,17373692,17272726,16931638,16902941,16877267,16874522,16439611,16406470,16368694,16336219,16328454,15489334,15383745,15280370,15086532,14504414,12851722,12810581,12707929,12694403,12477932,12476323,12049494,11855742,11306684,10336173,10333492,9518684,9303164,8938448,8248499,8190105,8063729,3697105,3037705,2674717,2336407,1905013,1445347,9614217,8139539,9603968,2739737,1411529,3443095,8508928,7925360,19183167,19156168,19086053,18723515,18454168,18385290,16754659,17415969,18577758,20146726 734777 1128 NM_000738,AP000438,CH471076,X15263,X52068,Y00508,AF385587,AF498915,AJ006520,AK312374,BC007740,BC022984,BT007166 NP_000729,EAW74124,EAW74125,EAW74126,CAA33334,CAA36291,CAA68560,AAK68112,AAM18938,CAA07081,BAG35292,AAH07740,AAH22984,AAP35830,P11229,Q53XZ3,Q712U2,Q96RH1,ABM81651,ABM83646,ABM86895 Hs.632119 HM1|M1|M1R|MGC30125 muscarinic acetylcholine receptor M1 protein-coding 733234 CHRM2 cholinergic receptor, muscarinic 2 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq] 1358507,1580863 19913121,20602615,20628086,17996044,17890226,17851256,17601350,17567401,17552496,17468496,17373692,17335853,17160701,17123299,17081262,16855219,16823639,16818863,16501017,16381901,16368694,16336219,16181410,16000316,15489336,15489334,15379890,15255931,15210286,15086532,14751843,14512373,12825791,12810581,12774299,12694864,12690205,12477932,12381439,12116189,12093817,11855742,11600475,11552008,11306684,11230166,11076863,10952973,10929429,10895079,10336173,9579781,9063897,8576254,8288567,8248499,7797501,7579899,2674717,2249995,9603968,8139539,2739737,10544184,3037705,3443095,19418213,19308904,19183167,19181679,19156168,19086053,18979273,18977241,18618671,18563417,18524769,18451336,18348264,18316677,18282687,17999088,11256614,16548883,18240029,19374848,19626040,19644963,19874574,20051519,20125193,20201926,20304928,20351714,20351719,20379614,18577758,17065150,20691427,20146726 1358507 1129 NM_001006627,NM_000739,NM_001006632,NM_001006631,NM_001006626,NM_001006629,NM_001006628,NG_011846,AB041391,AC009264,AC020581,CH236950,CH471070,NM_001006630,M16404,X15264,AF385588,AF498916,AK125233,AK290236,AL832585,AY034603,AY034604,AY034605,AY219703,AY219704,AY219705,AY456125,AY456126,AY456127,AY456128,AY456129,HC295424,BC095547,BC106741,BC106742 NP_001006631,NP_001006628,NP_000730,NP_001006633,NP_001006632,NP_001006627,NP_001006630,NP_001006629,BAA94476,EAL24054,EAW83866,AAA51570,CAA33335,AAK68113,AAM18939,BAF82925,AAO23567,AAO23568,AAO23569,AAO65595,AAO65596,AAO65597,AAR14890,AAR14891,AAR14892,AAR14893,EAW83865,CBJ06536,AAR14894,AAH95547,AAI06742,AAI06743,P08172,Q6SL56,Q6SL59,Q86SJ1,Q96RH0,CAL38394 Hs.535891 FLJ43243|HM2|MGC120006|MGC120007 7TM receptor|OTTHUMP00000208394|OTTHUMP00000208395|cholinergic receptor, muscarinic 2, isoform a|muscarinic M2 receptor|muscarinic acetylcholine receptor M2 protein-coding 734195 CHRM3 cholinergic receptor, muscarinic 3 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. [provided by RefSeq] 1580863,734983 20602615,9547368,1905013,10940357,9603968,8063729,2739737,10051746,3443095,19247692,19240061,19183167,19156168,19086053,19033440,18996102,18563417,18524769,18422974,18385290,18348264,18272392,18249005,18070938,17951979,17890325,17851256,17637176,17554300,17513382,17373692,17335853,17192665,17130513,17005862,16710414,16368694,16303743,16113538,15870063,15769745,15725576,15489334,15383626,15280370,15263021,14977875,14702039,14573754,12799371,12694864,12649280,12642833,12477932,12381439,12194018,12126481,11877431,11867338,11856737,11665980,11306684,11238933,10777483,10336173,9740233,8576254,8248499,8016895,7629074,3272174,3037705,20519144,17065150,21041608,2674717,15452121,18240029,19182865,19460789,19575010,19626040,19648965,19668880,19669628,19751772,19874574,19927300,20332620,20489201,20146726,20613776,16754659,19951374,20395537 734983 1131 BC121027,BX099030,AB041395,AC104460,AF331838,AL356361,AL357499,AL513543,CH471098,CQ782536,U29589,X15266,AF279779,AF385589,AF498917,AK056349,AK074575,BC096844,BC121026,NM_000740 AAI21027,P20309,Q8NG01,Q96RG9,ACE87485,ACE86798,NP_000731,BAA94480,AAM63959,CAH72986,CAH72987,EAW70076,EAW70077,EAW70078,CAF85818,AAA70337,CAA33337,AAG30036,AAK68114,AAM18940,AAH96844 Hs.7138 HM3 OTTHUMP00000037633|m3 muscarinic receptor|muscarinic acetylcholine receptor M3 protein-coding 68976 CHRM4 cholinergic receptor, muscarinic 4 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq] 1580863 12476323,12048193,11855742,11306684,10737800,10336173,9843378,8576254,8248499,7916637,3272174,2674717,2570410,1577490,12505680,12477932,9603968,2739737,3443095,3037705,19156168,18337477,18282687,17373692,15489334,15263021,15452121,18240029,19874574,20406819,2834384,18577758 1132 BC119775,BC119817,BC137535,BQ322895,NM_000741,AC116021,CH471064,M16405,X15265,AF385590,AF498918,BC095546 AAH95546,AAI19776,AAI19818,AAI37536,P08173,Q96RG8,NP_000732,EAW68004,AAA51571,CAA33336,AAK68115,AAM18941 Hs.248100 HM4|M4R OTTHUMP00000205575|muscarinic acetylcholine receptor M4 protein-coding 1350007 CHRM5 cholinergic receptor, muscarinic 5 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq] 1580863 3272174,1905013,8063729,8663391,19156168,19086053,19058789,17951979,17608938,17373692,16877267,15292665,14702039,12675126,12477932,11855742,11306684,10336173,9733718,8576254,8248499,2540186,19913121,20628086,15452121,18240029,19874574,19944766,20379614,16754659 1133 NM_012125,AC069045,CH471125,M80333,AB084282,AF026263,AF385591,AF498919,AK095198,BC041805,BC068528,AC009268 NP_036257,EAW92282,EAW92283,AAA51569,BAB91222,AAB95158,AAK68116,AAM18942,AAH41805,AAH68528,P08912,Q6NUM3,Q8IVW0,ACE87817,ACT64560 Hs.584747 HM5|MGC41838 muscarinic acetylcholine receptor M5 protein-coding 732599 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 704386,1580863 7619526,6688857,9221765,8872460,9546329,18252226,12928480,19307444,19259974,19086053,19010884,18806275,18625075,18179903,17687331,17373692,17082486,17028140,16435141,15079006,15028279,12588888,12477932,12015305,10958399,10910772,10195214,9158151,8910344,8441631,8334706,7902325,7863154,7725386,7695910,7254233,3651795,3338555,2449458,2221824,1712080,1694127,1397297,19913121,20628086,19760673,20201926,20379614,20734064,19059502 704386 1134 X02502,X17104,X70108,AK291338,AK299445,AK315312,BC006314,BC043196,BG828551,CD013889,S77094,Y00762,NM_000079,NM_001039523,NG_008172,AC018890,CH471058 EAX11127,EAX11126,EAX11128,CAA26344,CAA34960,CAA49705,BAF84027,BAG61418,BAG37716,AAD14247,CAA68731,P02708,Q53SH4,NP_000070,NP_001034612,AAY14687,EAX11124,EAX11125 Hs.434479 ACHRA|ACHRD|CHRNA|CMS2A|FCCMS|SCCMS OTTHUMP00000205173|OTTHUMP00000205174|OTTHUMP00000205175|acetylcholine receptor subunit alpha|cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)|nicotinic acetylcholine receptor alpha subunit|nicotinic cholinergic receptor alpha 1 protein-coding 735581 CHRNA10 cholinergic receptor, nicotinic, alpha 10 1580863 20584212,18420419,20231857,20379614,11350119,19259974,19156168,17559419,17373692,15531379,12477932,11752216,19760673,20734064 57053 NM_020402,AC060812,AF327367,CH471158,AF199235,AJ278118,AJ295237,BC136250,BC143303 NP_065135,AAK14333,EAX02560,CAC20435,CAC16144,AAI36251,Q9GZZ6,AAI52765,AAG00795 Hs.157714 NACHR alpha-10|cholinergic receptor, nicotinic, alpha polypeptide 10|neuronal acetylcholine receptor subunit alpha-10|nicotinic acetylcholine receptor subunit alpha-10 protein-coding 735907 CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) 1580863 20584212,19059502,8906617,19383498,19307444,19259974,19156168,19086053,19058950,18991851,18588430,18384978,18226955,18165968,17602836,17559419,17373692,16826524,16421571,16344560,15996750,15028279,12783266,12121305,10336173,9193799,8996215,7708749,7570187,1505988,12477932,20201926,20231857,20734064,20736995 1135 NM_000742,AF311103,CH471080,AK296348,AK308465,AK314787,AW292180,BC153866,CD013901,DA096824,DA407151,U62431,Y16281,NG_015827 NP_000733,EAW63552,BAG59031,AAI53867,AAB40109,CAA76154,Q15822 Hs.57718 OTTHUMP00000128276|cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)|neuronal acetylcholine receptor subunit alpha-2 protein-coding 732613 CHRNA3 cholinergic receptor, nicotinic, alpha 3 1599607,1599610,1580863 20554942,20564069,20584212,20587604,20631687,20643934,20656943,20712524,20725741,20808433,17373692,16091357,17344216,15716100,15681842,15494367,15489334,12912995,12663058,12477932,12214130,11771745,11606319,11118490,10771001,10336173,10095081,9921897,9804613,9624109,9387186,9009220,8889548,8878111,7850023,7490471,2336208,2004777,1989896,1725184,8906617,18227835,11450844,19641473,19628476,19628475,19506133,19429911,19300482,19259974,19247474,19156168,19132693,19029397,19010884,19005185,18996504,18957677,18780872,18759969,18647633,18618000,18519524,18414406,18385739,18385738,18385676,18163978,17504758,1572664,8987816,1689727,18978787,18978790,19654303,19671882,19696770,19706762,19733931,19834535,19836008,19859904,19955392,20007924,20043866,20068085,20173748,20201926,20234319,20393456,20395203,20418889,20418890,20485328,19059502,20418888,20426799,20734064,20736995,20840187,20886544,20979063,21081471 1599607,1599610 1136 NM_000743,AC027228,AC067863,AJ007783,AJ007784,AJ007785,AJ007786,AJ007787,CH471136,AF385584,AJ584707,AJ584708,AJ584709,AK298195,BC000513,BC001642,BC002996,BC006114,BC098443,BT006646,BT006897,M37981,U62432,X53559,Y08418,AI833126,NG_016143,NM_001166694 NP_000734,CAA07682,EAW99156,EAW99157,EAW99158,EAW99159,AAK68110,CAE48369,CAE48370,CAE48371,BAG60465,AAH00513,AAH01642,AAH02996,AAH06114,AAH98443,AAP35292,AAP35543,AAA59942,AAB40110,CAA37625,CAA69695,P32297,Q6EWN2,NP_001160166 Hs.89605 LNCR2|MGC104879|NACHRA3|PAOD2 cholinergic receptor, nicotinic, alpha polypeptide 3|neuronal acetylcholine receptor subunit alpha-3|neuronal nicotinic acetylcholine receptor, alpha3 subunit protein-coding 10356 CHRNA4 cholinergic receptor, nicotinic, alpha 4 This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. [provided by RefSeq] 704405,704387,1580863 20584212,20634891,20736995,15902904,15790597,15717291,15154117,15046869,12887446,12887442,12782394,12781587,12681012,12663058,12565129,12556914,12477932,12214130,12202488,12185808,12121305,11780052,11771745,11409698,11352901,11261808,10563623,9009220,8889548,8833159,7806245,7721089,7647781,7550350,16238698,19020039,19300482,19482438,19484724,19498063,19506906,19577488,19620239,19628475,19693267,19698703,19874574,20201926,20231857,20331911,20493238,19896235,20649589,8987816,8906617,16332175,17955458,14623738,12189247,19429020,19352218,19336370,19290018,19259974,19156168,19101612,19063970,19058950,19058789,19016604,18991851,18937294,18821565,18762859,18691652,18534558,18298895,18226955,18043764,18042647,17981562,17977823,17948872,17768273,17613539,17590520,17559419,17504247,17488453,17385675,17373692,17226798,16869227,16825297,16636791,16608406,16456787,16407231,16344560,16205844,16183856,16174636,16091357,16023355,15944128,2351675,1505988,1492743,20189461,19059502,20881005,20943775,20734064 704387 1137 NG_011931,AL121827,AY816234,AY878243,AY878244,CH471077,DQ093071,AK296430,AK314907,BC096290,BC096291,BC096292,BC096293,BM710937,DA530118,L35901,U62433,X87629,X89741,X89742,X89743,X89744,NM_000744,X89745,X89746,Y08421 NP_000735,CAC36119,AAV66461,AAW81038,AAW81039,EAW75269,EAW75270,AAY88737,BAG59090,AAH96290,AAH96291,AAH96292,AAH96293,AAA64743,AAB40111,CAA60959,CAA61893,CAA69698,P43681,Q4VAQ3,Q4VAQ5,Q5EIU9,Q5EIV0,Q5RLM1 Hs.10734 BFNC|EBN|EBN1|FLJ95812|NACHR|NACHRA4|NACRA4 cholinergic receptor, nicotinic, alpha polypeptide 4|neuronal acetylcholine receptor subunit alpha-4|neuronal nicotinic acetylcholine receptor alpha-4 subunit protein-coding 734445 CHRNA5 cholinergic receptor, nicotinic, alpha 5 Nicotinic acetylcholine receptors (nAChRs), such as CHRNA5, are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be (hetero)pentamers composed of homologous subunits. See MIM 118508 for additional background information on AChRs.[supplied by OMIM] 1580863 19913121,20584212,20587604,20624154,20628086,20631687,20643934,20656943,20677014,20725741,20733116,20736995,20808433,18780872,18759969,18618000,18559515,18519524,18519132,18450646,18414406,18385739,18385738,18385676,18165968,18163978,17559419,17373692,17135278,15716100,15489334,12783266,12477932,11606319,10679230,9655874,1542648,18227835,9009220,19641473,19628476,19482438,19429911,19390575,19300482,19259974,19247474,19223495,19156168,19132693,19086053,19029397,19010884,19005185,18996504,18978134,18957677,18783506,8906617,2004777,1572664,1505988,19059502,20691427,20734064,20840187,20854418,20886544,20979063,9193799,16341674,19436041,19443489,19671882,19696770,19706762,19733931,19776245,19836008,19859904,19955392,20124469,20173748,20201926,20395203,20418889,20438829,20485328,20548021,20554942,20564069,20581870,19577767,20381163,20881005 1138 NM_000745,AC027228,AJ306481,AJ306485,CH471136,AF385586,AJ584705,AJ584706,BC033639,BC050469,CR619227,M83712,U62434,Y08419,BM839817,NG_023328 NP_000736,CAC34820,EAW99160,EAW99161,EAW99162,CAE48367,CAE48368,AAH33639,AAA58357,AAB40112,CAA69696,P30532,Q6EWN4,ABM84281,ABM87673,ABW03599 Hs.1614,Hs.719767 LNCR2 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5|cholinergic receptor, nicotinic, alpha polypeptide 5|neuronal acetylcholine receptor subunit alpha-5|neuronal nicotinic acetylcholine receptor, alpha5 subunit protein-coding 733511 CHRNA6 cholinergic receptor, nicotinic, alpha 6 1580863 19086053,18940582,18704094,18055561,17373692,17081983,15489334,12537063,12477932,12406580,12150770,8950106,18940593,19698703,20029407,20231857,20418888,12195439,17207965,17324557,18198416,19204725,19564872,20734064,20736995,20854418,8906617,19500157,19259974,19156168,20923852,20584212,19059502 8973 DC307404,NM_001199279,NM_004198,AB079251,AC087533,CH471080,AK298798,AK313521,BC014456,U62435,Y16282 ADQ32811,NP_001186208,NP_004189,BAC06855,EAW63207,BAG60933,BAG36301,AAH14456,AAB40113,CAA76155,Q15825 Hs.103128 CHNRA6 cholinergic receptor, nicotinic, alpha polypeptide 6|neuronal acetylcholine receptor subunit alpha-6 protein-coding 736847 CHRNA7 cholinergic receptor, nicotinic, alpha 7 The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. [provided by RefSeq] 1300376,1358509,1600992,1580863 19080531,20584212,20602615,19462340,19367581,19307444,19259974,19181484,19156168,19136953,19086053,19058789,19040571,19038445,18800618,18696274,18691158,18667281,18545269,18471073,18450646,18393235,18385739,18307030,18302933,18198266,18078695,18073210,18072279,18071042,18057084,17981562,17978319,17920082,17884806,17709503,17573436,17559419,8906617,10681545,8145738,12508119,10771023,16280133,16754836,12189247,17498763,19630919,19587288,17504249,17012261,16837119,16822928,16563701,16461803,16417613,16314871,16307758,15927954,15896732,15857954,15807899,15531077,15504725,15494367,15465084,15292665,15226316,15219869,15100704,15046869,14729237,14582144,14569275,12783266,12781587,12748066,12663058,12626641,12549904,12509811,12477932,12470124,12454998,12431773,12399955,12391028,12214130,12193385,12049804,12020960,11905992,11891309,11891308,11840567,11840317,11829490,11803513,11803512,11771745,11532536,11455129,11424985,11278378,11150893,10336173,10206240,10206225,9782083,9193799,9009220,8996215,8889549,8188270,7571003,17493709,17373692,17335853,17291692,17286584,17241116,17192651,17192639,17113175,17015027,17012698,15252450,18387948,19351547,19433665,19506073,19549780,19623583,19631623,19666073,19736351,19749422,19808646,19944766,20006992,20231857,20463630,20518839,20309583,20691427,20734064,20736995,20927308,21073885,20506139,20720594,20660165,19059502,19896235 1300376,1358509,1600992 1139 NM_000746,NG_009216,AC058803,AC068448,AC079969,AF029837,AF332758,AF385585,AJ586911,AK292069,AK294229,AY909581,BC037571,BM451308,CR594008,CR620753,EF405802,EF405803,EF405804,EF405806,EF405807,EF405808,EF405809,EF405810,EF405811,EF405812,EF405813,EF405814,EF405816,EF405817,EF405818,L25827,N54079,U40583,U62436,X70297,Y08420,Z23141,CK903361,DQ786262,NM_001190455 NP_000737,AAK19515,AAK68111,CAE52911,BAF84758,BAG57531,AAH37571,ABR09427,ABR09428,ABR09429,ABR09430,ABR09431,ABR09432,ABR09433,ABR09434,ABR09435,ABR09436,ABR09437,ABR09438,AAA83561,AAB40114,CAA49778,CAA69697,CAA80672,P36544,Q5W554,NP_001177384 Hs.511772 CHRNA7-2|NACHRA7 a7 nicotinic acetylcholine receptor|alpha 7 neuronal nicotinic acetylcholine receptor|alpha-7 nicotinic cholinergic receptor subunit|cholinergic receptor, nicotinic, alpha polypeptide 7|neuronal acetylcholine receptor protein, alpha-7 chain|neuronal acetylcholine receptor subunit alpha-7 protein-coding 733287 CHRNA9 cholinergic receptor, nicotinic, alpha 9 This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. The protein is additionally expressed in keratinocytes, the pituitary gland, B-cells and T-cells. [provided by RefSeq] 1580863 18420419,19259974,19156168,17706194,17559419,17373692,16314871,15815621,15531379,15489334,12860975,12697997,12477932,11752216,11076863,11021840,20733118,19059502,20734064 55584 NM_017581,AC118275,AY123244,CH471069,AF227732,AJ243342,BC113549,BC113575 NP_060051,AAY40986,AAM74523,EAW92963,AAF61920,CAB65091,AAI13550,AAI13576,Q9UGM1,AAI11596,ADR83026 Hs.272278 HSA243342|MGC142109|MGC142135|NACHRA9 NACHR alpha 9|NACHR alpha-9|acetylcholine receptor alpha 9 subunit (nachr)|acetylcholine receptor, neuronal nicotinic, alpha-9 subunit|cholinergic receptor, nicotinic, alpha polypeptide 9|neuronal acetylcholine receptor protein, alpha-9 subunit|neuronal acetylcholine receptor subunit alpha-9|nicotinic acetylcholine receptor subunit alpha 9|nicotinic acetylcholine receptor subunit alpha-9 protein-coding 733898 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq] 704404,1580863 20584212,16280586,15489334,12477932,10662545,10562302,2740233,2221824,887246,1397297,8651643,8872460,16874522,11104662,19307444,19279256,19259974,19086053,18179903,17373692,17015027,16169070,20734064,20736995 1140 NM_000747,NG_008026,AC113189,CH471108,AK294880,AK298938,AK308106,BC011371,BC023553,X14830 NP_000738,EAW90186,BAH11912,BAH12907,AAH11371,AAH23553,CAA32939,P11230,Q8IZ46,ABM85567 Hs.330386 ACHRB|CHRNB|CMS1D|CMS2A|FLJ57107|SCCMS acetylcholine receptor subunit beta|cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) protein-coding 733218 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq] 737811,704404,737782,1580863 20534741,20574532,20677014,20736995,8906617,20649589,20371741,8987816,17559419,15964197,12189247,19279256,19259974,19156168,19101612,19086053,19063970,19058950,18991851,18830724,18762859,18593715,18534914,18534558,18226955,18043764,17900292,17385675,17373692,17226798,17192785,16928859,16636791,16407231,16314871,16183856,16174636,16023355,15944128,15681842,15489334,15154117,15046869,15033200,15026168,12681012,12663058,12477932,12214130,12202488,12185808,11952766,11906688,11771745,11261808,11104662,11062464,11054772,10771020,10441742,9921897,9009220,2377478,1505988,1397297,16238698,18242781,19482438,19620239,19755656,19874574,20231857,20413850,19059502,20734064,20854418,20880607,20881005,20923852,20943775,20441771 737811,737782 1141 NG_008027,AF077186,AF174495,AJ001935,AJ001936,AJ001937,AJ001938,AJ001939,AL592078,CH471121,AK313470,BC075040,NM_000748,BC075041,R40506,U62437,X53179,Y08415 NP_000739,AAD45422,CAA05108,CAI16184,EAW53192,BAG36255,AAH75040,AAH75041,AAB40115,CAA37320,CAA69692,P17787,Q5SXY3 Hs.2306 EFNL3|nAChRB2 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)|neuronal acetylcholine receptor subunit beta-2|neuronal nicotinic acetylcholine receptor beta 2 protein-coding 1347400 CHRNB3 cholinergic receptor, nicotinic, beta 3 1580863 18704094,18055561,17559419,17373692,17158188,17135278,16314871,15489334,12912995,12783266,12477932,11118490,10336173,9624109,9193799,9009220,8088849,7571003,1505988,19086053,19482438,19259974,19156168,19059502,19500157,7690916,8906617,20584212,19760673,20231857,20418888,17207965,20923852,20734064,20736995,20840187,20854418 1142 NM_000749,AC087533,AC090739,AC103843,AF140765,CH471080,BC069681,BC069703,BC069788,U62438,X67513,Y08417 NP_000740,AAD33063,EAW63208,AAH69681,AAH69703,AAH69788,AAB40116,CAA47851,CAA69694,Q05901,ADQ31924 Hs.654576 acetylcholine receptor, neuronal nicotinic, beta-3 subunit|cholinergic receptor, nicotinic, beta polypeptide 3|neuronal acetylcholine receptor subunit beta-3 protein-coding 732764 CHRNB4 cholinergic receptor, nicotinic, beta 4 1580863 20554942,20584212,20587604,20631687,20808433,12912995,12783266,12663058,12477932,12150770,11606319,11118490,10336173,9693793,9655874,9203638,9193799,9009220,8996215,7571003,2004777,1725184,1689727,1572664,1505988,8987816,11181995,19671882,19696770,19706762,19859904,20201926,20418889,20485328,15489334,8906617,11742001,11450844,1330682,19628476,19628475,19429911,19259974,19156168,19086053,19029397,18996504,18780872,18759969,18618000,18519524,18414406,18385739,18385738,18163978,17373692,16826524,16091357,15742216,19059502,20734064,20736995,20886544,20426799 1143 CH471136,NM_000750,AC067863,AF306329,AF453877,AJ306454,AK310443,BC096080,BC096081,BC096082,BC096083,CR617765,U48861,U62439,X68275,Y08416 EAW99153,EAW99154,NP_000741,AAL02062,AAL57840,CAC34819,AAH96080,AAH96081,AAH96082,AAH96083,AAA92123,AAB40117,CAA48336,CAA69693,P30926 Hs.624178 cholinergic receptor, nicotinic, beta polypeptide 4|neuronal acetylcholine receptor subunit beta-4|neuronal nicotinic receptor beta 4 subunit protein-coding 733359 CHRND cholinergic receptor, nicotinic, delta The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. [provided by RefSeq] 704404,1580863 20584212,8987816,8872460,18252226,19086053,19010793,18625075,18398509,18179903,15815621,15489334,14735155,12499478,12477932,11782989,11435464,9668219,8910344,8103404,7695910,2564429,2221824,19259974,20201926,19059502,20734064,20840187 1144 NM_000751,NG_008028,AC092165,CH471063,AK291526,AK296704,AK300109,AK304890,AK315297,BC093923,BC093925,CR623061,X55019 NP_000742,AAY24102,EAW71003,BAF84215,BAG59298,BAG61904,BAG65626,BAG37703,AAH93923,AAH93925,CAA38759,Q07001 Hs.156289 ACHRD|CMS2A|FCCMS|SCCMS acetylcholine receptor subunit delta|cholinergic receptor, nicotinic, delta polypeptide protein-coding 734106 CHRNE cholinergic receptor, nicotinic, epsilon Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The achetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq] 704404,1580863 15322984,8755487,8872460,7531341,19086053,19064877,18657869,17363247,17304221,17272341,16527851,16198106,16087917,15652413,15367858,14981744,14592868,14532324,12562900,12087176,11030414,10962020,10719961,10534268,10514102,10211467,9158150,8957026,19259974,19544078,19059502,8232384,7958418,7902325,7688301,7538206,1712080,20864527,20734064 1145 NM_000080,NG_008029,AB070507,AC109333,AF105999,CH471108,AI041890,X66403,AC233723 NP_000071,BAB97270,AAD24503,EAW90394,EAW90395,EAW90396,CAA47030,Q04844,Q8N731,AAI56078,AAI57044 Hs.654535 ACHRE|CMS1D|CMS1E|CMS2A|FCCMS|SCCMS AchR epsilon subunit|acetylcholine receptor subunit epsilon|cholinergic receptor, nicotinic, epsilon polypeptide protein-coding 732695 CHRNG cholinergic receptor, nicotinic, gamma For background information on the acetylcholine receptor (AChR), see CHRNA1 (MIM 100690). Two forms of AChR are found in mammalian skeletal muscle cells. The mature form is predominant in innervated adult muscle and the embryonic form is present in fetal and denervated muscle. Embryonic and mature AChR differ by the replacement of the gamma subunit in the pentameric glycoprotein complex by its isoform, the epsilon subunit (MIM 100725), which is specific to the mature AChR subtype. This switch is mediated by ARIA (acetylcholine receptor-inducing activity; MIM 142445).[supplied by OMIM] 704404,1580863 3967651,8040310,19086053,18625075,18502212,16826531,16826520,16435141,15815621,14702039,12477932,7695910,7688301,2630182,1981051,20584212,18988640,19259974,19059502,20734064 1146 NM_005199,AC092165,CH471063,X01715,X01716,X01717,X01718,X01719,X01720,X01721,X04759,AK125362,AK309340,BC111802,NG_012954 NP_005190,AAY24103,EAW71004,EAW71005,CAA25861,BAG54190,AAI11803,P07510,Q14DU4 Hs.248101 ACHRG|MGC133376 acetylcholine receptor subunit gamma|acetylcholine receptor, muscle, gamma subunit|cholinergic receptor, nicotinic, gamma polypeptide protein-coding 1317743 CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 1580863 10049591,9639683,9117134,8419650,1433500,9405439,10330415,19343046,18698629,17690104,16495484,16189514,15489334,15324304,12477932,11310842,10642612,10528213,21041608 8534 NM_003654,AC087442,AY339617,CH471064,AB003791,AF090137,AK311168,BC022567,BC028235,U65637 NP_003645,AAP88041,EAW68034,EAW68035,EAW68036,EAW68037,EAW68038,EAW68039,BAA24840,AAD19878,AAH22567,AAH28235,AAC28776,O43916 Hs.104576 C6ST|KS6ST|KSGal6ST GST-1|KSST|carbohydrate (chondroitin 6/keratan) sulfotransferase 1|carbohydrate sulfotransferase 1|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1|keratan sulfate Gal-6 sulfotransferase protein-coding 1353236 CHST10 carbohydrate sulfotransferase 10 Cell surface carbohydrates modulate a variety of cellular functions and are typically synthesized in a stepwise manner. HNK1ST plays a role in the biosynthesis of HNK1 (see MIM 151290), a neuronally expressed carbohydrate that contains a sulfoglucuronyl residue.[supplied by OMIM] 1580863 20950796,9478973,19470764,16344560,15489334,12477932,12080076,10464296,9110174,8619474,8419650,1433500 9486 HI968225,NM_004854,AC012493,CH471127,CS255950,AF003827,AF033827,AF070594,AK297267,AK313241,AU124707,BC010441,BU849869,CR593915 CBY88424,NP_004845,AAX93044,EAX01841,EAX01842,EAX01843,EAX01844,CAJ75915,AAC04707,AAC28651,BAH12534,BAG36052,AAH10441,O43529,Q53T18,ABM81990,ABM85171 Hs.516370 HNK-1ST|HNK1ST|MGC17148 HNK-1 sulfotransferase|carbohydrate sulfotransferase 10|huHNK-1ST protein-coding 1318147 CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 Chondroitin 4-sulfotransferases, such as CHST11, catalyze the transfer of sulfate from 3-prime-phosphoadenosine 5-prime-phosphosulfate to position 4 of N-acetylgalactosamine residues in chondroitin (Yamauchi et al., 2000 [PubMed 10722746]).[supplied by OMIM] 1580863 14702039,16344560,19937589,20080650,20379614,8619474,9110174,11056388,19240061,15628971,15489334,15324304,15273723,12847091,12477932,10781601,10737800,10722746,17207965,20580388 50515 AF131762,AK123676,AL833176,AY533204,AY533205,BC030271,BC061524,DA853534,NM_001173982,NM_018413,AC010191,AC073917,AC079316,AC126473,CH471054,AB042326,AF239820,AJ269537,AJ289134,AK290923,AK313217,BC013315,CR608680 AAU87522,AAU87523,NP_001167453,NP_060883,EAW97748,EAW97749,EAW97750,BAA95485,AAF81691,CAB87380,CAB92134,BAF83612,AAH13315,Q9NPF2,ADQ31678 Hs.17569,Hs.725189 C4ST|C4ST-1|C4ST1|DKFZp667A035|FLJ41682|HSA269537 C4S-1|IgH/CHST11 fusion|carbohydrate sulfotransferase 11|chondroitin 4-O-sulfotransferase 1|chondroitin 4-sulfotransferase 1 protein-coding 1317861 CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 Chondroitin 4-sulfotransferases, such as CHST12, add sulfate to position 4 of N-acetylgalactosamine residues in chondroitin (Hiraoka et al., 2000 [PubMed 10781601]).[supplied by OMIM] 1580863 10781601,17353931,15489334,12975309,12847091,12690205,12477932,9373149,8125298,20580388 55501 AC004840,CH236953,CH471144,AF239822,AJ289131,AK223191,AK223211,AK313484,AY358574,BC002918,BC015954,BC095492,CR590921,CR601672,CR610112,CR615984,CR624694,NM_018641 NP_061111,EAL23955,EAW87243,EAW87244,EAW87245,AAF81692,CAB92133,BAD96911,BAD96931,BAG36268,AAQ88937,AAH02918,AAH95492,Q53FS1,Q53FU0,Q9NRB3,ABM83895,ABM87216 Hs.213088 C4S-2|C4ST-2|C4ST2 OTTHUMP00000201074|carbohydrate sulfotransferase 12|chondroitin 4-O-sulfotransferase 2|chondroitin 4-sulfotransferase 2|sulfotransferase Hlo protein-coding 1347829 CHST13 carbohydrate (chondroitin 4) sulfotransferase 13 C4ST3 transfers sulfate to the C-4 hydroxyl of beta-1,4-linked GalNAc flanked by GlcUA residues in chondroitin (Kang et al., 2002 [PubMed 12080076]).[supplied by OMIM] 1580863 12080076,12477932,10781601,20580388 166012 NM_152889,AC024558,CH471052,AY120869,BC028283,BC039390,BC045257,BC047236,BC103895,BC103896,BC103897,CR622499 NP_690849,EAW79359,AAM55481,AAH39390,AAH47236,AAI03896,AAI03897,AAI03898,Q3SYA3,Q3SYA5,Q3ZCR4,Q3ZCU8,Q8NET6 Hs.292375 C4ST3|MGC119278|MGC119279|MGC119281 C4ST-3|carbohydrate sulfotransferase 13|chondroitin 4-O-sulfotransferase 3|chondroitin 4-sulfotransferase 3 protein-coding 1348543 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 D4ST1 catalyzes the 4-O-sulfation of N-acetylgalactosamine (GalNAc) residues in dermatan sulfate, a stereoisomeric form of chondroitin sulfate that contains varying proportions of iduronic acid in place of glucuronic acid (Mikami et al., 2003 [PubMed 12847091]).[supplied by OMIM] 737633 11470797,16303743,15489334,14702039,12975309,12847091,12477932,20533528,19661164,20004762,17207965,20842734 737633 113189 NM_130468,AC013356,CH471125,AB066595,AF282905,AF401222,AK074739,AY358446,BC009883,BC023653,BC049214,BC053633,CR997569,NG_017074 NP_569735,EAW92419,BAB84097,AAK69530,AAK92532,BAC11172,AAQ88811,AAH23653,AAH49214,AAH53633,Q8NCH0,ADQ32628 Hs.442449 ATCS|D4ST-1|D4ST1|HD4ST|HNK1ST carbohydrate sulfotransferase 14|dermatan 4 sulfotransferase 1 protein-coding 1602484 CHST15 carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 11572857,16024005,15489334,15164054,12874280,12477932,11073942,11032940,10749872,9754571,9628581,3082866,16385451,8889548 51363 BC075813,CR749804,AB025341,AL683842,CH471066,AB011170,AB062423,AF026477,AK294961,BC027908,BC050540,NM_015892,BM977716,NM_014863 AAH50540,AAH75813,CAH18664,Q7LFX5,NP_056976,BAA83686,CAI14442,EAW49273,EAW49274,EAW49275,EAW49276,BAA25524,BAB72145,AAC71691,BAG58035,AAH27908,NP_055678 Hs.287537,Hs.657537 BRAG|DKFZp781H1369|GALNAC4S-6ST|KIAA0598|MGC34346|RP11-47G11.1 B cell RAG associated protein (GALNAC4S-6ST)|B-cell RAG-associated gene protein|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase|OTTHUMP00000020689|carbohydrate sulfotransferase 15|hBRAG protein-coding 1315916 CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 N-acetylglucosamine-6-O-sulfotransferases, such as CHST2, catalyze the transfer of sulfate from 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) to position 6 of a nonreducing N-acetylglucosamine (GlcNAc) residue (Uchimura et al., 1998 [PubMed 9722682]).[supplied by OMIM] 1580863 19898482,9722682,11042394,10049591,12855678,16897186,15632306,15489334,15220337,14702039,12501187,12477932,11726653,11310842,11056388,10528213,9712885,8419650,1433500,19571171,21041608,20677014,19343046 9435 NM_004267,AB021125,AC018450,CH471052,AB014679,AB014680,AB021124,AF083066,AK023268,BC017499,BC036930,BC042160,BC068604,BC105010,BC105012 NP_004258,BAB16887,EAW78952,EAW78953,BAA34265,BAA34266,BAB16886,AAD20981,BAG51179,AAI05011,AAI05013,Q9Y4C5,ACE87509,ACE86823 Hs.8786 C6ST|GST-2|GST2|Gn6ST-1 N-acetylglucosamine 6-O-sulfotransferase 1|carbohydrate (chondroitin 6/keratan) sulfotransferase 2|carbohydrate sulfotransferase 2|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2|glcNAc6ST-1 protein-coding 1352183 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq] 1600853 16385451,20830804,9883891,19343046,19320654,18697746,18513679,18398821,16344560,15489334,15215498,12477932,11696535,11056388,9714738,8419650,1433500 1600853 9469 NG_012635,NM_004273,AC022392,AC073370,CH471083,AB012192,AB017915,AI041015,AK025251,BC033183,BC093690,BC104856,BG325090,DA223095,DB289525 NP_004264,EAW54440,BAA32576,BAA36348,AAH93690,AAI04857,Q7LGC8 Hs.158304 C6ST|C6ST1|HSD C6ST-1|GST-0|carbohydrate sulfotransferase 3|chondroitin 6-O-sulfotransferase 1|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0 protein-coding 1321907 CHST4 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 1580863 10330415,12855678,19343046,16386360,16303743,15489334,15220337,14702039,12477932,12218059,12107080,11726653,11439191,11310842,11181564,8419650,1433500,15752429,16344560,17049924,19156517 10164 NM_005769,AC010547,CH471166,AF131235,AF149783,AF280088,AK026635,AK074746,BC035282,AL709927,DA045171,DA496702,NM_001166395 NP_005760,EAW59235,AAD33015,AAK48417,AAG48246,BAC11177,AAH35282,Q8NCG5,ABM83036,ABM86230,NP_001159867 Hs.251383 GST3|GlcNAc6ST2|HECGLCNAC6ST|LSST GST-3|HEC-GlcNAc6ST|L-selectin ligand sulfotransferase|N-acetylglucosamine 6-O-sulfotransferase 2|carbohydrate sulfotransferase 4|galactose/N-acetylglucosamine/N-acetylgalactosamine 6-O-sulfotransferase 3|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 3|glcNAc6ST-2|gn6st-2|high endothelial cells N-acetylglucosamine 6-O-sulfotransferase protein-coding 1603314 CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 The carbohydrates of glycoconjugates are highly diverse structures with variation in monosaccharide composition, glycosidic linkage positions, and branching of chains. Further diversity is added by the covalent addition of sulfate moieties to particular hydroxyl groups and amino groups of saccharides. The sulfate modifications of glycoproteins can be extensive in amount and frequently occur at high density. They can have a profound effect on the physiochemical properties of the glycoconjugates, at least in part through the addition of negative charge. Carbohydrate sulfation plays a critical role in many biologic processes. CHST5 belongs to the GST family of sulfotransferases, which also includes CHST1 (MIM 603797), CHST2 (MIM 603798), CHST3 (MIM 603799), and LSST. These enzymes are 6-O-sulfotransferases, which add sulfate to C6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) (Lee et al., 1999 [PubMed 10491328]).[supplied by OMIM] 17207965,10491328,12218059,12855678,19343046,17690104,14702039,12975309,12626414,12477932,12107080,11352640,11017086,8419650,1433500,19844255,20453000 23563 NM_024533,AC009163,AC025287,AF176839,AF219991,CH471114,AF246718,BC147002,BC147007,BX282540,CR620108 ADQ32550,NP_078809,AAD56001,AAG26326,EAW95635,AAG28023,AAI47003,AAI47008,Q9GZS9 Hs.156784,Hs.710689 FLJ22167|I-GlcNAc-6-ST|MGC74625 GST4-alpha|I-GlcNAc6ST|N-acetylglucosamine 6-O-sulfotransferase 3|carbohydrate sulfotransferase 5|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-alpha|glcNAc6ST-3|gn6st-3|hIGn6ST|intestinal GlcNAc-6-sulfotransferase|intestinal N-acetylglucosamine-6-O-sulfotransferase protein-coding 1342606 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 1580863 11278593,11352640,11181564,19365571,19223992,19204788,18849568,18500531,17962390,17896316,17846354,17093400,16568029,16207214,15953452,15652851,15489334,15220337,15013869,14984470,14735064,14609920,12883341,12882775,12882769,12824236,12477932,12218059,11818380,11139648,11087716,11017086,10913333,8644739,8419650,1433500,19844255,20539220 4166 NM_021615,AC009163,AF219991,CH471114,AF280086,BC036640,BC041645,BC074834,BC074883,NG_016442 NP_067628,AAG26327,EAW95640,EAW95641,AAG48244,AAH74834,AAH74883,Q9GZX3 Hs.655622 MCDC1 C-GlcNAc6ST|GST4-beta|N-acetylglucosamine 6-O-sulfotransferase 5|OTTHUMP00000174952|carbohydrate sulfotransferase 6|corneal N-acetylglucosamine 6-sulfotransferase|corneal N-acetylglucosamine-6-O-sulfotransferase|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta|glcNAc6ST-5|gn6st-5|hCGn6ST protein-coding 1344494 CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 This gene belongs to the sulfotransferase gene family. Sulfotransferases generate sulfated glycosaminoglycan (GAG) moities during chondroitin sulfate biosynthesis. They create considerable structural diversity among chondroitin sulfates by transferring sulfate with remarkable specificity for the underlying oligosaccharide substrate. This gene product mainly transfers sulfate to N-acetylgalactosamine. The regulated expression of each member of this gene family may be an important determinant of sulfated GAGs expression and the associated function of chondroitin sulfates as regulators of many biologic processes. This gene is part of a gene cluster on chromosome Xp11.23. [provided by RefSeq] 10913333,10781596,16335952,15772651,15489334,12477932,11944989,10956661,8419650,1433500 56548 NM_019886,AL022165,CH471164,AB037187,AB040711,BC023971,BC045537,BQ940898 NP_063939,CAA18154,EAW59267,EAW59268,BAB03217,BAB13770,AAH45537,Q9NS84,ACT64520,ACT64521 Hs.129955 C6ST-2 GST-5|N-acetylglucosamine 6-O-sulfotransferase 4|carbohydrate sulfotransferase 7|chondroitin 6-sulfotransferase 2|chondroitin 6-sulfotransferase-2|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5|glcNAc6ST-4|gn6st-4 protein-coding 1319067 CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 Sulfate groups in carbohydrates confer highly specific functions on glycoproteins, glycolipids, and proteoglycans and are critical for cell-cell interaction, signal transduction, and embryonic development. Sulfotransferases, such as CHST8, carry out sulfation of carbohydrates (Hiraoka et al., 2001 [PubMed 11445554]).[supplied by OMIM] 1580863 20816195,21107309,10988300,11001942,11445554,19079260,16079414,15632154,15489334,12477932,8419650,1433500,20379614 64377 NM_001127895,NM_001127896,NM_022467,AC005615,AC007205,AC008994,AC010510,AC011519,AB047801,AF300612,AF305781,BC011380,BC014250,BC018723,BI917117,BX354555,CR622600,CR623005,DB500322 NP_001121367,NP_001121368,NP_071912,BAB19806,AAL09373,AAH11380,AAH14250,AAH18723,Q9H2A9,ABM82364,ABM85540,AAG39444 Hs.165724 GALNAC4ST1|GalNAc4ST GALNAC-4-ST1|GalNAc-4-O-sulfotransferase 1|N-acetylgalactosamine-4-O-sulfotransferase 1|carbohydrate sulfotransferase 8|galNAc4ST-1 protein-coding 1316417 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 Sulfate groups in carbohydrates confer highly specific functions on glycoproteins, glycolipids, and proteoglycans and are critical for cell-cell interaction, signal transduction, and embryonic development. Sulfotransferases, such as CHST9, carry out sulfation of carbohydrates (Hiraoka et al., 2001 [PubMed 11445554]).[supplied by OMIM] 11139592,11445554,15489334,14702039,12975309,12477932,8419650,1433500 83539 AC010854,AC023575,AC116017,CH471088,AF239821,AF332472,AF332473,AJ707539,AK093349,AK124319,AY358488,BC025764,BX119554,NM_031422 NP_113610,EAX01232,EAX01233,EAX01234,AAK01862,AAK30369,AAK30370,BAC04141,AAQ88852,AAH25764,Q7L1S5 Hs.44584,Hs.706552 FLJ42328|GALNAC4ST-2 GALNAC-4-ST2|GalNAc-4-sulfotransferase 2|N-acetylgalactosamine 4-O-sulfotransferase 2|N-acetylgalactosamine-4-O-sulfotransferase 2|carbohydrate sulfotransferase 9|galNAc-4-O-sulfotransferase 2 protein-coding 1323606 CHSY1 chondroitin sulfate synthase 1 CHSY1 synthesizes chondroitin sulfate, a glycosaminoglycan expressed on the surface of most cells and in extracellular matrices. Glycosaminoglycan chains are covalently linked to a wide range of core protein families and regulate many biologic processes, including cell proliferation and recognition, extracellular matrix deposition, and morphogenesis.[supplied by OMIM] 1580863 21129727,21129728,16303743,15489334,12975309,12907687,12716890,12477932,11514575,10231032 22856 NM_014918,AC019254,AC023024,CH471101,AB023207,AB071402,AK075096,AY358529,BC046247,CR592549,CR604598,AK296943,AL137409,BQ007796 NP_055733,EAX02292,BAA76834,BAB64936,AAQ88893,AAH46247,Q86X52,BAG59492 Hs.110488 CHSY|CSS1|ChSy-1|DKFZp434M032|FLJ58581|KIAA0990 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1|N-acetylgalactosaminyltransferase 1|N-acetylgalactosaminyltransferase II|chondroitin glucuronyltransferase 1|chondroitin glucuronyltransferase II|chondroitin sulfate synthase 1|chondroitin synthase 1|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1 protein-coding 1603860 CHSY3 chondroitin sulfate synthase 3 CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM] 17253960,17081983,12907687,12477932 337876 NM_175856,AC004219,AC005373,AC008426,AC011360,CH471062,AB086062,AB175496,AJ504664,AJ578034,AJ632296,AJ862728,AY726604,BC137325 NP_787052,EAW62379,BAC98832,BAF47165,CAD43233,CAE17326,CAG17593,CAH89316,AAI37326,Q1JTV1,Q3MTV6,Q70JA7 Hs.213137 CHSY2|CSS3 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3|N-acetylgalactosaminyltransferase 3|carbohydrate synthase 2|chSy-2|chondroitin glucuronyltransferase 3|chondroitin sulfate synthase 3|chondroitin synthase 2|chondroitin synthase-2|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II protein-coding 1321395 CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 1580863 12477932,12171929,11486023,11157797,18499658,17545166,15302935,14702039,12930902,12766176,18245774,20826785 63922 NM_022092,AE006465,AL031033,CH471112,AI650845,AK024476,AK128869,AK293846,AK309804,BC006278,BC006437,BC018184,DC410609 NP_071375,AAK61256,CAB53056,CAB53058,CAX15074,CAX15075,EAW85704,EAW85705,EAW85706,EAW85707,EAW85708,EAW85709,EAW85710,EAW85711,BAB15766,BAG57244,AAH06278,AAH06437,AAH18184,Q8WVB6,Q96S08 Hs.153850 C16orf41|C321D2.2|C321D2.3|C321D2.4|CHL12|Ctf18|RUVBL C321D2.3 (novel protein)|C321D2.4 (novel protein)|OTTHUMP00000208409|chromosome transmission fidelity protein 18 homolog|hCTF18|homolog of yeast CHL12|some homology with holliday junction DNA helicase RUVB like protein-coding 1606282 CHTF8 CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternative splicing results in multiple variants encoding different isoforms. This gene has a pseudogene on chromosome X. [provided by RefSeq] 15146197,12930902,12766176,12477976,12477932,11389843,16189514,16341674,16344560,15342556,20826785,14702039,15489334,15616553,17545166,8889548,16712791 54921 NM_001039690,NM_001040146,AC009027,CH471092,AF525164,AK000407,AL833902,BC018700,BC069059,BM820172,BP195395,BU631276,CB135653,CB147424,CN388626,CR600589,CR604324,CR605139,CR618875,DA076128,DB188088,BP222147,BU739855,DA378951,NR_033227 NP_001034779,NP_001035236,EAW83250,AAQ08897,BAA91144,CAD38758,AAH18700,P0CG12,P0CG13 Hs.85962 CTF8|DERPC|FLJ20400 chromosome transmission fidelity factor 8 homolog|chromosome transmission fidelity protein 8 homolog|decreased expression in renal and prostate cancer protein|hCTF8 protein-coding 2303675 CHTF8P CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) pseudogene 677883 NG_005539,AL136137 CHTF8P|CTF8P pseudo 1315401 CHUK conserved helix-loop-helix ubiquitous kinase This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq] 2292150,2292172,2291908,2298657,1580863 19913121,20628086,20634891,20684021,20711193,20378831,9252186,9520446,10747982,9346484,9744859,10485710,10723127,19258923,19223558,19104039,19088076,19085841,19074436,19050262,18990758,18952893,18940312,18829575,18818691,18704119,18688039,18633439,18604171,18600435,18593939,11359906,11113112,11002417,10968790,10962033,10779355,10755617,10713178,10521409,10469655,10195894,10187861,10072079,9891086,9819420,9813230,9751060,9751059,9632806,9409737,9346241,9244310,8777433,8246997,7558004,17182689,11959143,19150425,11585904,11278268,10887201,10094049,11877453,11057907,9346485,12210728,10485711,11853669,10848580,12093792,12351658,11096118,14499622,14585990,14585847,15856023,15782119,15845455,15802604,15494311,15084260,20671123,16303288,16424386,20098747,20817876,15800029,20568250,21048031,18571841,18560356,18550535,18512729,18490760,18443205,18224289,18163512,18071880,17962807,17897950,17823124,17785555,17703412,17684021,17616684,17597077,17537731,17507655,17452475,17452332,17439942,17434128,17363973,17363905,17319651,17317777,17272824,17237443,17237434,17237423,17145747,17138672,17102620,17079494,16902410,16733051,16407216,16405428,16280329,16258173,16177806,16034126,15808510,15677466,15489227,15469934,15456791,15226448,15164054,15153339,15140882,15071597,14963024,14743216,14585846,12789342,12771929,12589056,12547194,12477932,12411322,12133833,12048203,11971985,11864612,11815618,11805286,11594795,11527961,20501937,10648614,10848576,11042193,11095741,11136824,11809792,11976329,12070292,12459277,12637324,12707358,12842894,15125834,15389589,15601829,15761153,16046471,16286467,16319058,16365431,16385451,17047224,17289033,17540171,17891179,17914462,18029348,18180283,18207244,18579519,18782346,19270264,19421711,19453261,19488402,19573080,19728335,19773279,19786094,19838210,19851296,19854138,19909783,19948975,20043910,20051109,20056178,20164171,20198315,20331378,20379146,20448286,20503287,20508983,9689078,20356841,20149620,15276183,16382138,20351780,21056038,12482991,20961246,20855622 2292150,2292172,2291908,2298657 1147 AL138921,NM_001278,AY652653,CH471066,AB209028,AF009225,AF012890,AF080157,AL521750,BC034796,BC092514,BM800404,U22512,AL133012,NG_028023 NP_001269,CAH72401,AAT49098,EAW49845,BAD92265,AAC51671,AAC51662,AAD08996,AAH92514,AAC50713,O15111,Q562E6,Q59GT1 Hs.198998 IKBKA|IKK-alpha|IKK1|IKKA|NFKBIKA|TCF16 I-kappa-B kinase 1|I-kappa-B kinase alpha|I-kappa-B kinase-alpha|IKK-a kinase|IkB kinase alpha subunit|Nuclear factor NFkappaB inhibitor kinase alpha|TCF-16|conserved helix-loop ubiquitous kinase|ikappaB kinase|inhibitor of nuclear factor kappa-B kinase subunit alpha|nuclear factor NF-kappa-B inhibitor kinase alpha|transcription factor 16 protein-coding 1312958 CHURC1 churchill domain containing 1 1580863 17610897,15489334,14702039,14651851,12477932 91612 NM_145165,AL135745,AL139022,AK296141,AK315905,AF060510,AK057626,AV734503,BC010517,BC020550,BM453839,CR608557,CH471061 NP_660148,BAH12268,BAH14276,EAW80883,EAW80884,EAW80885,EAW80886,EAW80887,AAG43128,BAG51943,AAH20550,Q8WUH1 Hs.325531 C14orf52|FLJ33064|FLJ51978|FLJ78804|My015|chch protein Churchill protein-coding 1354495 CIAO1 cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae) 1580863 17353931,17937914,9556563,17041588,16189514,15489334,14702039,12477932,10493829,9373149,8125298,16169070 9391 BI460314,CR456802,CR592447,CR593125,CR605216,EF011618,U63810,AC004020,AC021188,CH471207,AF086118,AI094333,AK056423,AK092687,AK124703,AK223257,AK299503,AK315568,BC001395,BC032812,BE220199,NM_004804,BG108391 CAG33083,ABK41108,AAC24948,O76071,ABW03824,ABW03511,NP_004795,AAC23493,EAW71374,EAW71375,BAD96977,BAG61458,BAG37943,AAH01395,AAH32812 Hs.12109 CIA1|WDR39 WD repeat domain 39|WD repeat-containing protein 39|WD40 protein Ciao1|cytosolic iron-sulfur protein assembly 1 homolog|probable cytosolic iron-sulfur protein assembly protein CIAO1|wd repeat domain 39 protein-coding 1346049 CIAPIN1 cytokine induced apoptosis inhibitor 1 CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM] 14970183,19081179,18625724,18389626,18299278,18293492,18203020,18059532,17935775,16957168,16410721,16381901,15489336,15489334,12477932,11230166,11076863,10493829,16189514,19194512 57019 CR610264,CR613123,CR613398,CR614864,CR618915,CR622197,CR623944,CR624651,CR625926,CR625987,AC004382,AC009052,CH471092,AF116609,AF248964,AK074263,AK292281,AK295024,AL136613,BC002568,BC024196,BC067303,BC071740,CR533545,CR590040,CR591087,CR591925,CR594653,CR596897,CR597162,CR597348,CR600387,CR604417,CR605182,CR605775,CR607816,NM_020313 Q6FI81,CAL38726,ACE87592,ACE86905,NP_064709,AAC24311,AAC24312,EAW82922,EAW82923,EAW82924,AAF71034,AAG44562,BAF84970,BAG58080,CAB66548,AAH02568,AAH24196,AAH67303,AAH71740,CAG38576 Hs.4900 2810413N20Rik|Anamorsin|DRE2|PRO0915 anamorsin|cytokine-induced apoptosis inhibitor 1|fe-S cluster assembly protein DRE2 homolog|predicted protein of HQ0915 protein-coding 2301776 CIAPIN1P cytokine induced apoptosis inhibitor 1 pseudogene 728599 NG_008808,AC090206 HsT2384 pseudo 732228 CIB1 calcium and integrin binding 1 (calmyrin) The protein encoded by this gene is a member of the calcium-binding protein family. The specific function of this protein has not yet been determined; however this protein is known to interact with DNA-dependent protein kinase and may play a role in kinase-phosphatase regulation of DNA end joining. This protein also interacts with integrin alpha(IIb)beta(3), which may implicate this protein as a regulatory molecule for alpha(IIb)beta(3). [provided by RefSeq] 1580863 19913121,20628086,15475008,15231747,10366599,9030514,9372844,12011095,19388079,18989529,18627437,17516631,16825200,16723353,16418530,16061695,15933764,15885068,15685448,15574431,15489334,15203218,15190070,14992593,12881299,12714504,12651910,12477932,12023286,11997098,11856312,11756406,11039900,10826701,10822252,10523297,9852683,16582881,19854831,20473878 10519 NM_006384,AB021866,AC091167,CH471101,AA769426,AB451276,AB451406,BC000846,CD622547,CR456955,CR604330,CR614655,CR626397,U82226,U83236,U85611 NP_006375,BAA36281,EAX02087,EAX02088,EAX02089,EAX02090,BAG70090,BAG70220,AAH00846,CAG33236,AAC51106,AAB39758,AAB53387,Q99828,ABM82122,ABM85305 Hs.715556 CIB|KIP|KIP1|SIP2-28 CIBP|DNA-PKcs-interacting protein|DNA-dependent protein kinase interacting protein|SNK-interacting protein 2-28|Snk interacting protein 2-28|calcium and integrin binding protein|calcium and integrin binding, protein kinase interacting protein|calcium and integrin-binding protein 1|calcium- and integrin-binding protein|calmyrin|kinase-interacting protein protein-coding 1318655 CIB2 calcium and integrin binding family member 2 The amino acid sequence the protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. This suggests that the encoded protein may be a Ca2+-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunit (DNA-PKcs). 737633,1580863 17207965,9931475,15489334,12477932,10764802,9891849,9630066 737633 10518 NM_006383,AC090260,CH471136,AB012955,BC020443,BC033108,BC047381,BC057292,BE907622,BI523557,BQ681471,BT019962,AK293167 ADQ32461,NP_006374,EAW99183,EAW99184,EAW99185,EAW99186,BAA33584,AAH33108,AAH47381,AAV38765,O75838,Q5TZX7,BAG56711 Hs.129867 KIP2 2810434I23Rik|DNA-dependent protein kinase catalytic subunit-interacting protein 2|KIP 2|calcium and integrin-binding family member 2|kinase-interacting protein 2 protein-coding 1312677 CIB3 calcium and integrin binding family member 3 This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. [provided by RefSeq] 1580863 15574431,12477932 117286 NM_054113,AC020911,CH471106,AB050868,AW295492,BC069320,BC069428,BC069524,BC112200,BC113591 NP_473454,EAW84533,EAW84534,EAW84535,BAB71789,AAH69320,AAH69428,AAH69524,AAI12201,AAI13592,Q6NT26,Q6NT60,Q96Q77,Q6ISP1,ADR82855 Hs.255432 KIP3|MGC138405|MGC142151|MGC96922 DNA-dependent protein kinase catalytic subunit-interacting protein 3|KIP 3|calcium and integrin-binding family member 3|kinase-interacting protein 3 protein-coding 1606728 CIB4 calcium and integrin binding family member 4 15574431,12477932,20379614 130106 NM_001029881,CH471053,BC127684,BC127685,BC140923,CR598913 NP_001025052,EAX00680,AAI27685,AAI27686,AAI40924,A0PJX0 Hs.591579 KIP4 calcium and integrin-binding family member 4 protein-coding 1321769 CIC capicua homolog (Drosophila) 1580863 19913121,20628086,16713569,17081983,15981098,15345747,15302935,15057824,12393275,9205841,17190598,19837261,20936779 23152 NM_015125,AC006486,CH471126,AB002304,AF363689,AK025939,CR625274 NP_055940,AAD11988,EAW57119,EAW57120,EAW57121,BAA20765,AAK73515,Q96RK0,AAI40444 Hs.388236 KIAA0306 protein capicua homolog protein-coding 2881602 CICP1 capicua homolog (Drosophila) pseudogene 1 12815422,9847074 360017 AC006328,NG_004755 pseudo 3077585 CICP10 capicua homolog (Drosophila) pseudogene 10 100462787 AC145627,NG_021554 pseudo 2801954 CICP11 capicua homolog (Drosophila) pseudogene 11 100288904 AC091812,NG_022989 pseudo 3207429 CICP12 capicua homolog (Drosophila) pseudogene 12 100420224 AC092647,NG_022557 pseudo 3436434 CICP13 capicua homolog (Drosophila) pseudogene 13 728615 AL513314,NG_022827 pseudo 2974704 CICP14 capicua homolog (Drosophila) pseudogene 14 100130600 NG_023445,AC018638,AC093183,CH471070 EAW83664 pseudo 3207430 CICP16 capicua homolog (Drosophila) pseudogene 16 100420203 AC110079,NG_022032 pseudo 2881604 CICP2 capicua homolog (Drosophila) pseudogene 2 12815422 360016 AC012005,NG_004755 pseudo 3340242 CICP3 capicua homolog (Drosophila) pseudogene 3 100132630 AL669831,NG_016558 pseudo 3277505 CICP4 capicua homolog (Drosophila) pseudogene 4 100132920 AL137028,NG_016559 pseudo 2902497 CICP5 capicua homolog (Drosophila) pseudogene 5 730978 AC138393,NG_016560 pseudo 4110359 CICP8 capicua homolog (Drosophila) pseudogene 8 442676 AC093392,CH471140,NG_027793 EAX07997 pseudo 3547159 CICP9 capicua homolog (Drosophila) pseudogene 9 80699 AL133216,NG_002661 bA291L22.4 pseudo 1312942 CIDEA cell death-inducing DFFA-like effector a This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq] 1580863,1625390 9564035,15919794,18509062,18328351,18033804,17895319,17080483,16186410,14702039,12910269,12477932,18645223,19010897,20211485,10837461,16169070,20154362,20945533 1625390 1149 AP005264,CH471113,EF444967,AA683375,AF041378,AK122762,AY364639,BC031896,BQ718688,R73455,NM_001279,NR_036468,HQ384162 NP_001270,EAX01555,ACA05965,ACA05966,AAC34987,BAG53714,AAQ65241,AAH31896,O60543,Q8N5P9,ADU05471 Hs.249129 CIDE-A cell death activator CIDE-A protein-coding 1320650 CIDEB cell death-inducing DFFA-like effector b 1580863 16712791,17207965,10619428,12429024,16248853,15489334,14702039,12477932,10837461,9564035,12595532,19064571,20551328 27141 NM_014430,AL096870,CH471078,AF190901,AF218586,AF544398,AI242048,AK000387,AK122828,BC035970,BX418750,CB162472,CR611009,DN997151,BC000982 NP_055245,EAW66031,EAW66032,EAW66033,AAF23324,AAF27658,AAN37907,BAA91132,ADQ32263,BAG53748,AAH35970,Q9UHD4 Hs.642693,Hs.708040 cell death activator CIDE-B protein-coding 1354006 CIDEC cell death-inducing DFFA-like effector c DNA fragmentation factor (DFF) induces the fragmentation of DNA associated with apoptosis. A novel family of cell death-inducing DFF45 (MIM 601882)-like effectors (CIDEs), including CIDEC, can also promote apoptosis (Liang et al., 2003 [PubMed 12429024]).[supplied by OMIM] 737633,1580863 12429024,18702959,18334488,15489334,14702039,12477932,20154362,18029348,19661960,20049731,20089860,17207965,16507259,18171433,18500987,18509062,19276890,19843876,20440297,20945533,20957525,20967381 737633 63924 NM_022094,AC018809,CH471055,AF303893,AK024524,AK024530,AY364638,AY364640,BC016851,AL598630,AL598731,CD518729,CD519587,NM_001199551,NM_001199552,NM_001199623 NP_071377,EAW64011,EAW64012,EAW64013,EAW64014,AAN32612,BAB14920,BAB14922,AAR23106,AAQ65242,AAH16851,Q96AQ7,ADQ31589,NP_001186480,NP_001186481,NP_001186552 Hs.567562 CIDE-3|FLJ20871|FSP27|Fsp27 OTTHUMP00000207602|cell death activator CIDE-3|cell death-inducing DFFA-like effector protein C|fat specific protein 27|fat-specific protein FSP27 homolog protein-coding 1626563 CIDECP cell death-inducing DFFA-like effector c pseudogene 12477932 152302 NR_002786,AC022007,AC034193,AF279614,BC069255,BC090925,BC006266,BC043599 AAH43599 Hs.635072 CICE pseudo 1347347 CIDX combined immunodeficiency, X-linked 1150 1348941 CIITA class II, major histocompatibility complex, transactivator This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. [provided by RefSeq] 1600188,1580863 18437201,15771576,8402893,16600381,7749984,14528304,107465,19523152,19358337,19317741,19221398,19201831,19104823,19081173,19041327,18982019,18630461,18593762,18349319,18245089,18398440,18226342,18209080,17956914,17919972,17875550,17711409,17678724,17661914,17623662,17620097,17611194,17300840,17183695,17133579,17075826,17012290,16996793,16920747,16849401,16776848,16426246,16254053,15964851,15950283,15897313,15876426,15788405,15682480,15528357,15467734,15326139,15247301,15247294,15242870,15210796,15162420,15100295,14973505,14563641,14525769,12933903,12919287,12884309,12883198,12859996,12748124,12517958,12477932,12391224,12391222,12374747,12355430,12218128,12077331,12072194,12052885,11981818,11978778,11953317,11862382,11857059,11792431,11777970,11774613,11514574,11466404,11463838,11416140,11118314,11046145,11003667,10661406,10644363,10501838,10464099,9551976,9184229,9177217,9177216,9099848,9039770,8717517,8537130,1008718,1007865,15502823,20228799,17493635,19229048,19567623,19578796,19605748,19659749,19660582,19814686,19897249,20190752,20211854,20230522,20378664,20379614,9171108,19853614,20634887,20538595,19913121,20628086,21041720,20942939 1600188 4261 NG_009628,AC133065,AF000003,CH471112,U94773,AF410154,AY084054,AY084055,AY699071,BE247223,BM193016,U18259,U18288,U31931,X74301,NM_000246 AAB92363,EAW85168,EAW85169,EAW85170,EAW85171,EAW85172,EAW85173,EAW85174,AAC39714,AAL04118,AAM15723,AAM15724,AAU06586,AAA88861,AAA88862,AAA92364,CAA52354,P33076,Q29675,Q29704,Q66X48,Q6LC19,Q71VQ4,Q8SNB7,Q8SNB8,Q96KL4,AAI72348,NP_000237 Hs.701991 C2TA|CIITAIV|MHC2TA|NLRA MHC class II transactivator|MHC class II transactivator type III|NLR family, acid domain containing|mhc class ii transactivator|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing protein-coding 1353261 CILD2 ciliary dyskinesia, primary 2 10745040 56162 1312971 CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for 2 different proteins, namely CILP and a homolog of NTPPHase, however later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. One isoform of the protein, CILP-1, functions as an IGF-1 antagonist. [provided by RefSeq] 1580863,1625347 12746903,9722583,9722584,17220213,16453284,16413503,16344560,15864306,15489334,15378262,14962958,12975309,12483726,12477932,11315923,10601732,10319588,9373149,8889548,8125298,19569011,20724643 1625347 8483 NM_003613,NG_012214,AB022430,AC068213,AF035455,CH471082,AF035408,AK225652,AK225926,AK313352,AL602624,AY358904,BC035776,CA503413,DB071945 NP_003604,BAA76692,AAF14689,EAW77717,AAC33838,BAG36154,AAQ89263,AAH35776,O75339,ABM82198,ABM85386 Hs.442180 CILP-1|HsT18872 cartilage intermediate layer protein 1|cartilage intermediate layer protein 1 C1|cartilage intermediate layer protein 1 C2|cartilage intermediate-layer protein protein-coding 1322465 CILP2 cartilage intermediate layer protein 2 737633,1580863 20570916,20679960,12746903,19060906,18987386,18193044,18193043,16344560,15489334,12477932,19656773,20864672 737633 148113 NM_153221,AC011448,CH471106,AF542080,AK127735,AK314213,BC018939,BC034926,BC068256,DA328640 NP_694953,EAW84832,EAW84833,AAN17826,BAG36887,AAH18939,AAH34926,Q8IUL8 Hs.279574 CLIP-2|MGC45771 CILP-2|cartilage intermediate layer protein 2|cartilage intermediate layer protein-like protein 2 protein-coding 1602222 CINP cyclin-dependent kinase 2-interacting protein The function of this gene has not been reported. This gene contains a trinucleotide (ctt) repeat length polymorphism; alleles with either one or two repeat units have been identified. [provided by RefSeq] 16189514,16082200,14702039,12477932,16344560,19889979 51550 AK056112,BC000600,BX248279,CR457178,CR592942,CR593168,CR600690,CR623828,AL137229,CH471061,AF228148,AF228149,NM_032630,BU174070,DA167716,DA699021,NM_001177611,NM_001177612 AAF44748,BAB71095,AAH00600,CAD62607,CAG33459,Q86TU0,Q9BW66,EAW81785,EAW81786,AAF44747,NP_116019,NP_001171082,NP_001171083 Hs.129634 MGC849 CDK2-interacting protein|cyclin-dependent kinase 2-interacting protein protein-coding 1602899 CIR1 corepressor interacting with RBPJ, 1 15652350,17081983,15815621,15489334,12477932,9874765,11591653,11509665,11222720,10644367,3031469,11000236,18029348,19409814 9541 NM_004882,AC018470,CH471058,AF098297,AK292389,BC015040,BC021175,BC031018,BC038987,BC046098,BU596189,CR593259,CR599038,CR601497,CR611416,U03644 NP_004873,AAY24216,EAX11144,EAX11145,EAX11146,AAD05243,BAF85078,AAH21175,AAH31018,AAH38987,AAH46098,AAA17853,Q86X95 Hs.632531 CIR CBF1 interacting corepressor|CBF1-interacting corepressor|corepressor interacting with RBPJ 1|recepin protein-coding 1343841 CIRBP cold inducible RNA binding protein 1580863 9151692,17353931,19277990,19158277,16713569,16189514,15489334,11574538,16513844,18482256,15342556,15075239,15057824,14702039,12819390,12477932,11850402,9434172,9422546,9334257 1153 BC000403,BC000901,BI819825,BP195090,BT007210,CR592824,CR593654,CR597422,CR601118,CR601213,CR602241,CR606464,CR612156,CR612930,CR613900,CR613916,CR615208,CR616652,CR618584,CR618838,CR624441,CR625198,CX785176,D78134,NR_023313,NM_001280,AC004258,CH471139,AB451225,AB451348,AF021336,AK094781,AK095781,AK128423,AK304185,AK304470,AK311601,AL133636,NR_023312,HB645625 AAH00403,AAH00901,AAP35874,BAA11212,Q14011,Q53XX5,Q6ZR81,ABW03670,ABW03323,NP_001271,AAC04895,EAW69520,EAW69521,EAW69522,EAW69523,EAW69524,EAW69525,BAG70039,BAG70162,AAC51787,BAG52929,BAC87434,BAG65065,BAG65284,CBB98487 Hs.634522,Hs.618145 CIRP A18 hnRNP|cold inducible RNA-binding protein|cold-inducible RNA-binding protein|glycine-rich RNA binding protein|glycine-rich RNA-binding protein CIRP protein-coding 1322745 CIRH1A cirrhosis, autosomal recessive 1A (cirhin) This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq] 1600653 16225863,16344560,15768832,15635413,15489334,14702039,12477932,12429849,12417987,11853319,11045837,10820129,8703127,18482256,19732766 1600653 84916 NM_032830,NG_008278,AC009027,AC009131,CH471092,AB075868,AK027419,AK027445,AK027584,AK027634,AK027675,AK074795,AK310104,BC000167,BC009348,BX647265,CA430627,DA277545,AC208009 NP_116219,EAW83251,EAW83252,EAW83253,EAW83254,EAW83255,EAW83256,EAW83257,BAB85574,BAB55100,BAB55116,BAB55212,BAB55251,BAB55287,BAC11214,AAH00167,AAH09348,Q969X6 Hs.461113 CIRHIN|FLJ14728|FLJ17146|KIAA1988|NAIC|TEX292 cirhin|testis expressed gene 292 protein-coding 1319915 CISD1 CDGSH iron sulfur domain 1 CISD1 is a member of the CDGSH domain-containing family and may play a role in the regulation of mitochondrial oxidative capacity (Wiley et al., 2007, 2007 [PubMed 17376863] [PubMed 17584744]).[supplied by OMIM] 737633 12477932,17207965,20877624,19388667,18047834,17905743,17766440,17766439,17584744,17376863,16344560,15489334,16385451,19574633,20099820 737633 55847 NM_018464,AC016396,CH471083,AF220049,AI025360,AK312017,AY960578,BC005962,BC007043,BC008474,BC059168,DA417986 ADQ33168,NP_060934,EAW54162,EAW54163,EAW54164,EAW54165,EAW54166,AAF67642,BAG34955,AAY32336,AAH05962,AAH07043,AAH08474,AAH59168,Q9NZ45 Hs.370102 C10orf70|MDS029|MGC14684|ZCD1|mitoNEET CDGSH iron sulfur domain-containing protein 1|CDGSH iron-sulfur domain-containing protein 1|zinc finger CDGSH-type domain 1|zinc finger, CDGSH-type domain 1 protein-coding 1605581 CISD1B CDGSH iron sulfur domain 1B pseudogene 130500 NG_005172,AC013400 ZCD1B pseudo 1603794 CISD2 CDGSH iron sulfur domain 2 The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2 (WFS2). [provided by RefSeq] 11076863,11256614,17846994,17584744,17376863,16381901,16344560,15489336,14724730,12477932,11317648,11230166,10739754,18029348,19580816,20649540 493856 NM_001008388,NG_008636,AC018797,AF213884,CH471057,AA424361,AI277147,AK292134,BC020831,BC032300,BX537971,CR598535,CR605697,CR617516,CR618210,DB351048,DB565768,DN993861,AC083826 NP_001008389,EAX06148,EAX06149,BAF84823,AAH32300,CAD97935,Q8N5K1,CAL37687,CAL38263 Hs.556638,Hs.444955 ERIS|Miner1|WFS2|ZCD2 CDGSH iron sulfur domain-containing protein 2|CDGSH iron-sulfur domain-containing protein 2|NAF-1|endoplasmic reticulum intermembrane small protein|mitoNEET related 1|mitoNEET-related 1 protein|nutrient-deprivation autophagy factor-1|zinc finger, CDGSH-type domain 2 protein-coding 1626692 CISD3 CDGSH iron sulfur domain 3 CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM] 17584744,17376863,14702039,12477932 284106 NM_001136498,AC006449,CH471152,AK097047,AK098433,BC062294,CR621383 NP_001129970,EAW60525,P0C7P0 Hs.713595 Miner2 CDGSH iron sulfur domain-containing protein 3, mitochondrial|CDGSH iron-sulfur domain-containing protein 3, mitochondrial|mitoNEET related 2|mitoNEET-related protein 2 protein-coding 735426 CISH cytokine inducible SH2-containing protein The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,10902923,9465889,18820827,18647318,18508766,18420585,17666591,16684815,16344560,15489334,15470047,15231748,14707129,14630083,12648219,12618484,12586763,12477932,12077274,12076535,11713228,11032736,10969179,10517496,10514520,9774439,7796808,10585430,15644415,19592657,19595407,19807022,20484391 1154 NG_023194,NM_145071,NM_013324,AC096920,AF035946,CH471055,Z77852,AF035947,AF132297,AK313850,BC031590,BC064354,BF511692,CA435538,CR594144,CR602225,D83532,DA957793 NP_659508,NP_037456,AAQ13420,EAW65127,EAW65128,EAW65129,EAW65130,AAF97410,AAD28471,BAG36578,AAH31590,AAH64354,BAA92328,Q71V34,Q9NSE2 Hs.655334 CIS|CIS-1|G18|SOCS cytokine-inducible SH2-containing protein|cytokine-inducible inhibitor of signaling type 1B|suppressor of cytokine signaling protein-coding 731048 CIT citron (rho-interacting, serine/threonine kinase 21) 1580863,734780 19913121,20628086,9792683,11086988,19328558,17534152,17081983,16565220,16541075,16431929,15983625,15122253,14702039,12506198,12477932,12411428,10862698,10231032,9870942,8543060,12773565,20084519,20379614 734780 11113 NM_007174,AC002563,AC004813,AC079317,CH471054,AB023166,AK123136,AY209000,AY257469,AY681966,BC008127,BC047647 NP_009105,AAB71327,EAW98155,EAW98156,EAW98157,EAW98158,BAA76793,AAP43922,AAP13528,AAV87216,O14578,Q2M5E1,AAI56530,AAI72522 Hs.119594 CRIK|KIAA0949|STK21 OTTHUMP00000166061|citron Rho-interacting kinase|rho-interacting, serine/threonine kinase 21|serine/threonine-protein kinase 21 protein-coding 1344879 CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 9707553,8901575,9434189,17938205,17710162,16864582,15489334,15342556,12477932,11744733,11581164,11310794,10722728,10644012,9721210,9683535,17336183,15843474 4435 AB451286,AB451418,AI217516,BC004240,BP247232,CR597324,N27803,U65092,NM_001144886,NM_004143,NM_001144887,NM_001144885,AL135749,CH471213,NG_015847 BAG70100,BAG70232,AAH04240,AAC51113,Q99966,ABM83910,ABM87231,EAW71820,NP_001138358,NP_004134,NP_001138359,NP_001138357,EAW71818,EAW71819 Hs.40403 MSG1 OTTHUMP00000023531|OTTHUMP00000023532|OTTHUMP00000023533|OTTHUMP00000023534|OTTHUMP00000023535|cbp/p300-interacting transactivator 1|melanocyte-specific gene 1|melanocyte-specific protein 1 protein-coding 734120 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 634741,1581188,734781,1580863 12586840,17906695,16287139,18054336,12960175,19319572,18984668,17932483,16675452,16341674,15489334,15051727,14633989,12477932,11744733,10593900,10552932,9887100,9811838,9434189,8901575,20932315,16619037,21098220,20654020,11597177,12762840,12778114,19642106,19862010,19904269,20392269 634741,1581188,734781 10370 NM_006079,AF129290,AL592429,CH471051,AF109161,BC004377,BM763150,CR607406,CR615989,U65093,BG900380,BI763038,NG_016169,NM_001168388,NM_001168389,HM015589 NP_006070,AAF01263,AAF01264,CAH70354,EAW47891,EAW47892,EAW47893,EAW47894,EAW47895,AAD10055,AAH04377,AAC51114,Q99967,ABM84222,ABM87730,NP_001161860,NP_001161861,ADL14510 Hs.82071 MRG1|P35SRJ MRG-1|MSG-related protein 1|MSG1-related gene 1|cbp/p300-interacting transactivator 2|melanocyte-specific gene 1-related gene 1 protein-coding 1354399 CITED4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 CITED4 belongs to a family of transcriptional coactivators that bind several proteins, including CREB-binding protein (MIM 600140) and p300 (MIM 602700).[supplied by OMIM] 634742,1580863 17311001,15572674,15489334,15342390,12477932,11744733,20734064,18722883 634742 163732 BC052559,NM_133467,AC119677,AF362074,AF466291,CH471059,BC035496,CS589327,CS589365,CS684677,CS684715 AAH35496,AAH52559,Q96RK1,NP_597724,AAK64235,AAL73989,EAX07195,CAN89457,CAN89458,CAP11404,CAP11405 Hs.355820 MRG-2|MSG1-related protein 2|cbp/p300-interacting transactivator 4|transcriptional co-activator 4 protein-coding 1313304 CIZ1 CDKN1A interacting zinc finger protein 1 1580863 18654987,10529385,18583151,18081865,17508423,17108141,17081983,16341674,15585571,14702039,12824700,12477932,10369878 25792 EF467915,AK292713,NM_001131015,NM_001131018,NM_001131016,NM_001131017,AL590708,CH471090,Y17452,Y17453,Y17454,AB030835,AF159025,AF234161,AK023978,AK027287,NM_012127,AK296363,AK303288,AK303636,AK316393,BC004119,BC021163,BM743935,BM757318,EF441870 ABO43037,NP_036259,NP_001124487,NP_001124490,NP_001124488,NP_001124489,CAI13828,CAI13829,CAI13830,CAI13831,CAI13832,CAI13833,CAI13834,CAI13835,EAW87752,EAW87753,EAW87754,EAW87755,EAW87756,EAW87757,EAW87758,CAB44345,CAB44346,CAB44347,BAA85783,AAF23231,AAF37882,BAB14750,BAB55017,BAF85402,BAH12333,BAG64365,BAG64643,BAH14764,AAH04119,AAH21163,ABR23005,Q5SYW2,Q5SYW4,Q5SYW9,Q5SYX4,Q96KB7,Q9BTG3,Q9ULV3,Q9Y3F8 Hs.212395 LSFR1|NP94|ZNF356 CDKN1A-interacting zinc finger protein 1|OTTHUMP00000022242|OTTHUMP00000022245|OTTHUMP00000022246|cip1-interacting zinc finger protein|nuclear protein NP94|zinc finger protein 356 protein-coding 1323189 CKAP2 cytoskeleton associated protein 2 CKAP2 is a cytoskeleton-associated protein involved in mitotic progression (Seki and Fang, 2007 [PubMed 17376772]).[supplied by OMIM] 18029348,19369249,17376772,17339342,16876122,16565220,15489334,15324660,15057823,14702039,12942315,12500535,12477932,11234418,11230166,11149944,9771967,19641375 26586 NM_001098525,NM_018204,AJ429398,AL359513,CH471274,AB064212,AF177227,AK001611,AK022982,AK027103,AK096227,AK299083,AL136848,AY062261,AY062262,BC010901,BC066920,BC105806,BC130296,BC136332,BM541375,CR590367,CR591745,CR607908,DB512858,EF560732,Y15758 NP_001091995,NP_060674,CAD22295,CAH71660,CAH71661,EAW55889,EAW55890,BAC01840,AAG33675,BAA91788,BAB14345,BAG61147,CAB66782,AAL47212,AAL47213,AAH10901,AAI05807,AAI30297,AAI36333,ABQ59042,CAC17466,Q8WWK9,ACE87819,ACT64373,ADR83110 Hs.444028,Hs.449585,Hs.521482 DKFZp686L1238|FLJ10749|LB1|TMAP|se20-10 CTCL tumor antigen se20-10|OTTHUMP00000018457|OTTHUMP00000215091|cytoskeleton-associated protein 2|tumor- and microtubule-associated protein|tumor-associated microtubule-associated protein protein-coding 1602064 CKAP2L cytoskeleton associated protein 2-like 18723088,16344560,14702039,10737800,12477932,20468071 150468 NM_152515,AC079922,AC112235,CH471217,AK097948,AK292530,AK302875,AK316241,AL832036,BC036217,BF742811,DA506407 NP_689728,AAY14923,AAX93053,EAW73602,EAW73603,BAC05202,BAF85219,BAG64055,BAH14612,AAH36217,Q8IYA6 Hs.434250 FLJ40629|MGC39683 cytoskeleton-associated protein 2-like protein-coding 1323735 CKAP4 cytoskeleton-associated protein 4 1580863 19615732,19861536,8314870,19144824,18708633,18333895,18296695,17975794,17030514,16546853,16398404,15703217,15623521,15489334,15476176,12913003,12477932,11402071,9373149,8566419,8125298,7673362,1730740,20562859,20156774,16169070,20184665,20870746,20808887 10970 AC079174,CH471054,AK123693,AK223563,BC015436,BC025341,BC037578,BC067357,BC082972,BC094824,CR626523,X69910,NM_006825 Q6NWZ1,Q8TB01,NP_006816,EAW97770,EAW97771,EAW97772,EAW97773,BAG53938,BAD97283,AAH25341,AAH67357,AAH82972,AAH94824,CAA49535,Q07065 Hs.74368 CLIMP-63|ERGIC-63|MGC99554|p63 63 kDa membrane protein|cytoskeleton-associated protein 4|transmembrane protein (63kD), endoplasmic reticulum/Golgi intermediate compartment|type-II transmembrane protein p63 protein-coding 1605408 CKAP5 cytoskeleton associated protein 5 11076968,12221128,12852856,16462731,17643375,19079262,19373773,19996280,20200978,20508983,7790358,20566684,14603251,17474147,15703215,14718566,18809577,18663358,17376965,15302935,14702039,12569123,12477932,11903063,8889548,8536682,7788527,12421765,20694011 9793 NM_001008938,AC021573,AC115088,CH471064,AW504660,BC017856,BC035554,BC070136,BC111043,BC120869,BC120870,BM980015,BU661430,CR623748,D43948,X92474,NM_014756 NP_055571,NP_001008938,EAW67976,AAH17856,AAH35554,AAH70136,AAI11044,AAI20870,AAI20871,BAA07892,CAA63212,Q14008,Q8IYN5,Q8NAH3 Hs.201253 CHTOG|FLJ35359|KIAA0097|MSPS|TOG|TOGp|ch-TOG colonic and hepatic tumor over-expressed gene protein|cytoskeleton-associated protein 5 protein-coding 730974 CKB creatine kinase, brain The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq] 1598441,1300048,1580863 20520825,1840537,1602151,1117316,466791,19337554,20588136,3034271,10893433,16981706,19405953,19165527,18977227,18793185,18682038,18566107,18552983,18309274,17036164,16424007,16384981,16189514,15996648,15489334,12477932,12160938,12039490,9748661,9365161,8889548,8186255,7808454,7057800,6998544,6846432,3899413,3692484,3514665,2914937,2883200,2828370,2792236,2771648,18029348,19615732,20460152 1598441 1152 XM_003119579,XM_003119580,XM_003119581,XM_003119586,AL133367,CH471061,DQ333313,M21236,M21243,M22354,M22356,X15334,AK290101,AK298198,AK312282,BC001190,BC004914,BC008323,BC010002,BC019259,BC019281,BG720434,BM684665,CR542268,CR592666,CR593337,CR594482,CR595016,CR598157,CR599533,CR602332,CR602935,CR604078,CR604286,CR604715,CR608393,CR609423,CR612287,CR614187,NM_001823,CR614656,CR617409,CR618341,CR618535,CR618596,CR618760,CR619605,CR620989,CR622478,CR625533,L47647,M16364,M16451 XP_003119627,XP_003119628,XP_003119629,XP_003119634,NP_001814,EAW81820,EAW81821,EAW81822,ABC67465,AAC31758,AAA52024,CAA33389,BAF82790,BAG60468,BAG35211,AAH01190,AAH04914,AAH08323,AAH10002,AAH19259,AAH19281,CAG47064,AAA76852,AAA76850,AAA76851,P12277 Hs.173724 B-CK|CKBB creatine kinase B chain|creatine kinase B-type|creatine kinase-B protein-coding 1345512 CKBE creatine kinase, ectopic expression 1156 1604069 CKBP1 creatine kinase B pseudogene 1 2883200,1676982 1157 NG_001535,AC007225,M60806 pseudo 1606001 CKLF chemokine-like factor The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 11415443,18294340,18069042,16344560,15489334,14672709,12975309,12477932,12411060,12183067,11478515,11042152,20392439,20237496 51192 AA234074,AF057306,AF096895,AF135380,AF135381,AF145216,AF151058,AK290307,AK301240,AY358999,BC004380,BC091478,CR600254,DA804889,NM_001040138,NM_016951,NM_181641,NM_181640,NM_016326,AC010542,AY665769,CH471092,FB746680 AAF21255,AAF06722,AAF19599,AAF19600,AAF19350,AAF36144,BAF82996,BAG62809,AAQ89358,AAH04380,AAH91478,Q5BJH6,Q9UBR5,ABM84314,EAW83022,ABM87707,NP_001035228,NP_058647,NP_857592,NP_857591,NP_057410,AAT70694,EAW83019,EAW83020,EAW83021,CAT04648 Hs.15159,Hs.698621 C32|CKLF1|CKLF2|CKLF3|CKLF4|HSPC224|UCK-1 chemokine-like factor|chemokine-like factor 1|chemokine-like factor 2|chemokine-like factor 3|chemokine-like factor 4|transmembrane proteolipid protein-coding 737472 CKM creatine kinase, muscle The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq] 1598441,1300048,1580863,1359082 15504039,15489334,15057824,12972258,12477932,12432079,12039490,11922612,10089465,9748661,8524781,7808454,7805577,7057800,3031982,2914937,2903158,2331374,2309701,1690725,18222470,16344560,19523464,19670037,20536908,20588136,15967462,20952631,3778496,10893433,16981706,19422651,19125286,19039220,18833644,18810980,18801770,18055044,17885020,17478608,17303563,17000714,16810680,16373479,16289162,16120572,16092153,16087811,16079652,16037885,20157874,20558199,19337554,19913121,20588308,20628086,20634891,20669347 1598441,1359082 1158 DA896166,NM_001824,AC005781,AY585238,CH471126,M21487,M21494,AK129878,AK300730,AK313281,BC007462,BT006793,CR601202,M14780,M16440 NP_001815,AAC62841,AAS79321,EAW57337,AAA96609,BAG62403,BAG36089,AAH07462,AAP35439,AAA52025,AAA52026,P06732,ABM92156,ABM84627 Hs.334347 CKMM|M-CK creatine kinase M chain|creatine kinase M-type|creatine kinase-M protein-coding 1603442 CKMT1A creatine kinase, mitochondrial 1A Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq] 7896282,7808456,7525559,6584077,3400641,2324105,20302626,8692275,2914937,10893433,19415690,17028143,15489334,12477932,12401781,11874479,11768757,11602586,10748055,10737943,9746319,9373149,8923416,8125298,20877624 548596 NM_001015001,NG_005156,AC011330,AK223365,AK295776,AK316052,AK316124,AK316319,BC001926,BC006467,BM923431,BT006628,CR597545,CR599511,CR599868,CR605038,CR618017 NP_001015001,BAD97085,BAG58600,BAH14423,BAH14495,BAH14690,AAH01926,AAH06467,AAP35274,P12532 Hs.425633,Hs.654988 CKMT1|CKMT1B|FLJ50967|UMTCK U-MtCK|acidic-type mitochondrial creatine kinase|creatine kinase U-type, mitochondrial|creatine kinase, mitochondrial 1 (ubiquitous)|mia-CK|ubiquitous mitochondrial creatine kinase protein-coding 1345536 CKMT1B creatine kinase, mitochondrial 1B Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq] 1580863 16952984,16166745,15489334,14702039,12477932,12401781,11874479,11768757,11602586,10748055,10737943,9746319,9373149,8923416,8889548,8692275,8125298,7896282,7808456,7525559,6584077,3400641,2914937,2324105,20877624 1159 AK296271,AK296472,AK308770,BC108652,BC121001,BC121002,BI118196,BU674851,CR616544,NM_020990,NG_005156,AC011330,J04469,AK094322,AK293685,AK293790,AK293939,AK293961,AK294063,AK294735,AK294908 BAG58981,BAG59114,AAI08653,AAI21002,AAI21003,P12532,ABM84311,ABM87704,NP_066270,AAA98744,BAG57125,BAG57203,BAG57316,BAG57333,BAG57409,BAG57880,BAG57995 Hs.425633 CKMT|CKMT1|CKMT1A|UMTCK OTTHUMP00000066275|OTTHUMP00000200125|U-MtCK|acidic-type mitochondrial creatine kinase|creatine kinase U-type, mitochondrial|creatine kinase, mitochondrial 1 (ubiquitous)|mia-CK|ubiquitous mitochondrial creatine kinase protein-coding 1343148 CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 2324105,10893433,17289898,16344560,16169070,16020522,15489334,15044463,14702039,12477932,12401781,11874479,11768757,10748055,10674997,10462222,9746319,9312135,8276398,7808456,2914937,1917943,20877624 1160 NM_001099736,NM_001825,NM_001099735,AC020901,AC026436,CH471084,AK122769,AK313293,AW300490,BC029140,CR450315,DA826840,DB479765,DC308656,J05401 NP_001093206,NP_001816,NP_001093205,EAW95865,EAW95866,EAW95867,BAG53719,BAG36100,AAH29140,CAG29311,AAA60561,P17540,ABM81707,ABW03302 Hs.80691 SMTCK S-MtCK|basic-type mitochondrial creatine kinase|creatine kinase S-type, mitochondrial|mib-CK|sarcomeric mitochondrial creatine kinase protein-coding 1348442 CKS1A CDC28 protein kinase regulatory subunit 1A pseudogene 18625720,18498131,17499794,15014502,8697818,19360356,19786724 137529 NG_001577,AC022598 CKS1 CDC28 protein kinase regulatory subunit 1A pseudo 1344929 CKS1B CDC28 protein kinase regulatory subunit 1B CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq] 9276444,12813041,2227411,8601310,11231585,19161979,18922157,18471975,17464290,17377499,17303695,16979657,16924241,16209941,16188652,16168119,15772084,15579456,15489334,15146197,15014502,12529174,12477932,12473461,12140288,8697818,7791211,18519678,11907280,17409098,19615732,19786724,19845855,19866239,20379614,16712791,20688354,20465575,20737481,20733055 1163 CN347951,CR595346,CR607335,X54941,NR_024163,NM_001826,AL451085,CH471121,AF274941,AF274943,AF279897,AK307066,AK311769,BC007751,BC015629,BC070319,BC070320,BQ883992,BT007196,CB161621 CAA38702,P61024,Q5T178,Q9BZU3,ABM81626,ABM83898,ABM84810,ABM86884,ABW03287,ABW03288,NP_001817,CAI13255,CAI13256,CAI13257,EAW53160,EAW53161,EAW53162,EAW53163,EAW53164,EAW53165,EAW53166,AAK07518,AAK07520,AAK07553,BAG34712,AAH07751,AAH15629,AAH70319,AAH70320,AAP35860 Hs.374378 CKS1|PNAS-16|PNAS-18|ckshs1 CDC2-associated protein CKS1|CDC28 protein kinase 1|CDC28 protein kinase 1B|CKS-1|NB4 apoptosis/differentiation related protein|PNAS-143|cell division control protein CKS1|cyclin-dependent kinases regulatory subunit 1 protein-coding 1350804 CKS1BP CDC28 protein kinase regulatory subunit 1B pseudogene 317780 NG_002475,AL355102 CKS1BP pseudo 1348595 CKS1BP2 CDC28 protein kinase regulatory subunit 1B pseudogene 2 246714 NG_001578,AL159170 bA192N10.2 pseudo 1352719 CKS1BP3 CDC28 protein kinase regulatory subunit 1B pseudogene 3 246715 NG_001579,AC008917,AC114982 pseudo 4109589 CKS1BP4 CDC28 protein kinase regulatory subunit 1B pseudogene 4 100499259 AP000873,NG_023440 pseudo 4888741 CKS1BP5 CDC28 protein kinase regulatory subunit 1B pseudogene 5 100526793 AC109441,NG_027929 pseudo 3160709 CKS1BP6 CDC28 protein kinase regulatory subunit 1B pseudogene 6 652904 AC005913,NG_012762 pseudo 1348782 CKS2 CDC28 protein kinase regulatory subunit 2 CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq] 1580863 15504738,8211159,2227411,19034516,18625720,18498131,17388661,17336302,16189514,16169070,15900300,15489334,12477932,8697818,15989971,19845855 1164 NM_001827,AF506708,AL160054,CH471089,CS185526,BC006458,BC020345,BT006630,CR407630,CR542118,CR601576,CR621720,X54942,HI519560 NP_001818,AAM22232,CAI41365,EAW62762,CAJ42707,AAH06458,AAP35276,CAG28558,CAG46915,CAA38703,P33552,Q6FGI9,Q6LET5,CBX54361 Hs.83758 CKSHS2 CDC28 protein kinase 2|CKS-2|CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2|cyclin-dependent kinases regulatory subunit 2 protein-coding 1352289 CLA1 cerebellar ataxia 1 (autosomal recessive) 4838888,10528257 1165 1349113 CLA2 cerebellar ataxia 2 (X-linked) 1166 1350268 CLA3 cerebellar ataxia 3 (cerebellar parenchyma disorder 1) 1167 1346967 CLAM cerebellar atrophy with progressive microcephaly 12771259 373073 1322173 CLASP1 cytoplasmic linker associated protein 1 CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM] 1580863 12837247,15631994,17342765,15928712,16866869,17113391,16914514,11290329,16824950,16145243,16000324,15815621,15489334,15324660,15302935,14702039,14504462,12477932,10899121,9734811,17353931,17543864,20852589,19913121,20628086,11076968,12221128,12852856,16462731,19561070,19701196,20508983,7790358 23332 AK294922,AK297259,AK297420,AK299331,AK301814,AK302393,AY425956,BC032563,BC112940,BC132723,BC144107,BE328429,BX648523,BX648933,CR619630,CR749627,CR933722,NM_015282,NM_001142273,AC012447,AC013399,AC018737,AC079449,NM_001142274,CH471103,AB014522,AF347693,AJ288057,AK074338,AK091140,AK123216 BAH11926,BAH12531,BAH12576,BAH13003,BAH13560,BAH13694,AAR07949,AAH32563,AAI12941,AAI32724,AAI44108,CAH18421,NP_001135746,NP_056097,NP_001135745,AAX88872,EAW95252,EAW95253,EAW95254,EAW95255,BAA31597,AAQ15051,CAC35156,Q68D09,Q6TAR3,Q7Z460,CAI46251 Hs.469840,Hs.708183 DKFZp686D1968|DKFZp686H2039|FLJ33821|FLJ41222|KIAA0622|MAST1|MGC131895 CLIP-associating protein 1|OTTHUMP00000203754|OTTHUMP00000207290|cytoplasmic linker-associated protein 1|hOrbit1|multiple asters 1|multiple asters homolog 1|protein Orbit homolog 1 protein-coding 733933 CLASP2 cytoplasmic linker associated protein 2 1580863 11290329,15928712,17113391,12837247,19289791,16914514,16866869,16824950,15955847,15631994,15489334,15207236,14702039,12477932,10899121,9734811,17353931,16484223,19615732,19632184,19701196,20219685,20379614,17543864,19924516 23122 AC093114,AC113170,AC132515,CH471055,AB014527,AJ288059,AK024770,AK090716,AK091451,AK293963,NM_015097,AK294345,AK297322,AL137636,BC011530,BC029035,BC140778,BX640725,CR602185,DQ200868,DQ200869 NP_055912,EAW64459,EAW64460,EAW64461,EAW64462,EAW64463,EAW64464,EAW64465,EAW64466,EAW64467,BAA31602,CAC35158,BAB14995,BAG52218,BAC03667,BAG57335,BAG57614,BAG59785,CAB70852,AAH11530,AAH29035,AAI40779,CAE45842,ABB13628,ABB13629,O75122,Q07A19,Q07A20,Q6N029,Q8NB74,Q96F87 Hs.108614 CLIP-associating protein 2|OTTHUMP00000209953|OTTHUMP00000215958|OTTHUMP00000215959|clip-associating protein 2|cytoplasmic linker-associated protein 2|hOrbit2|multiple asters (Mast)-like homolog 2|protein Orbit homolog 2 protein-coding 1345540 CLC Charcot-Leyden crystal protein Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq] 1580863 8419478,6511787,2709814,2160563,2160562,1577491,1373430,942977,19497882,19650845,19758173,20237496,8400237,17502455,17166282,16457599,16015083,15489334,15057824,12714580,12477932,12031912,10529229,9119387,8747464 1178 NM_001828,AC005393,AC006133,CH471126,L01665,U68398,BC119711,BC119712,FJ613334,FJ613335,L01664 NP_001819,AAC28912,EAW56914,AAC37530,AAC51157,AAI19712,AAI19713,ACR09636,ACR09637,AAA36190,Q05315 Hs.889 GAL10|Gal-10|LGALS10|LGALS10A|LPPL_HUMAN|MGC149659 eosinophil lysophospholipase|gal-10|galectin 10|galectin-10|lysolecithin acylhydrolase protein-coding 1314775 CLCA1 chloride channel accessory 1 This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq] 1580863,4145653,4145655,4145656,4145657,1331524,4145661 17898169,17698377,17621552,17426222,16470849,16465045,16344560,16148052,20542744,16023076,15919655,15490240,15318163,14985398,14702039,14512419,12568493,12408984,12110680,11994272,11842292,11071307,10737800,10617765,10437792,9828122,10758170,19307298,19423540,19530997,19834535,20179644,20406964,20438785,19913121,20628086 4145653,4145655,4145656,4145657,1331524,4145661 1179 NM_001285,AF039401,AL122002,CH471097,AA508854,AF039400,AF127036,AK024970,AK097057,AK291999,AK300858,AK314375,AW361520,AW750670,DA428844 NP_001276,AAC95429,CAI22169,EAW73186,AAC95428,AAD25487,BAG53415,BAF84688,BAG62508,BAG37002,AAI41452,AAI56806,A8K7I4 Hs.194659 CACC|CACC1|CLCRG1|CaCC-1|FLJ95147|GOB5|hCLCA1|hCaCC-1 CLCA family member 1, chloride channel regulator|OTTHUMP00000011907|calcium-activated chloride channel family member 1|calcium-activated chloride channel protein 1|calcium-activated chloride channel regulator 1|calcium-dependent chloride channel-1|chloride channel regulator 1|chloride channel, calcium activated, family member 1 protein-coding 1312594 CLCA2 chloride channel accessory 2 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Since this protein is expressed predominantly in trachea and lung, it is suggested to play a role in the complex pathogenesis of cystic fibrosis. It may also serve as adhesion molecule for lung metastatic cancer cells, mediating vascular arrest and colonization, and furthermore, it has been implicated to act as a tumor suppressor gene for breast cancer. [provided by RefSeq] 18950845,16873362,16158324,15707651,14512419,12612194,12477932,12110680,11320086,11262615,11149902,11071307,10737800,10584316,10554024,10437792,10362588,10758170,19423540,19654313,20406964,20438785 9635 NM_006536,AC119749,AF114429,CH471097,CS223381,AB026833,AF043977,AF127980,AK290348,AK307937,BC041096,BE062109,HH935296,HI939026,HI939139,HI939252,HI987322,HI988477,HI988590 NP_006527,AAF21968,EAW73187,CAJ46930,BAA77810,AAD40367,AAD48397,BAF83037,AAH41096,Q9UQC9,CBX36868,CBY79740,CBY79759,CBY79778,CBY88734,CBY88762,CBY88781 Hs.241551 CACC|CACC3|CLCRG2|CaCC-3|FLJ97885 CLCA family member 2, chloride channel regulator|calcium-activated chloride channel family member 2|calcium-activated chloride channel protein 3|calcium-activated chloride channel regulator 2|calcium-activated chloride channel-2|chloride channel regulator 2|chloride channel, calcium activated, family member 2|hCLCA2|hCaCC-3 protein-coding 1352211 CLCA3P chloride channel accessory 3 (pseudogene) This gene is a transcribed pseudogene belonging to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. This gene contains several nonsense codons compared to other family members that render the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this gene is unlikely to be protein-coding. [provided by RefSeq] 1580863 10095065,12477932,11071307,10584316,10758170 9629 NR_024604,AL356270,AF043976 AAD23734,Q9Y6N3 CLCA3 pseudo 1351138 CLCA4 chloride channel accessory 4 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding. [provided by RefSeq] 1580863 16344560,15490240,12975309,12477932,11071307,10437792,8889548,10758170 22802 NM_012128,NR_024602,AL122002,CH471097,AF127035,AK000072,AK000138,AK293766,AK307785,AK307898,AK314430,AY358470,BC113687,BC113689,CB851641,DA668017,DA761219 NP_036260,CAI22170,EAW73184,EAW73185,AAD48398,BAA90969,BAH11591,AAQ88834,AAI13688,AAI13690,Q14CN2,Q9NXP1,ADR83285 Hs.567422 CaCC|CaCC2|MGC142247|MGC142249 caCC-2|calcium-activated chloride channel family member 4|calcium-activated chloride channel protein 2|calcium-activated chloride channel regulator 4|chloride channel regulator 4|chloride channel, calcium activated, family member 4|hCLCA4|hCaCC-2 protein-coding 1604384 CLCC1 chloride channel CLIC-like 1 18029348,20416077,16344560,15342556,14702039,12477932,11279057,9872452 23155 NM_015127,NM_001048210,AL449266,CH471122,CS265768,AB018304,AB052915,AB052916,AB052917,AB052918,AK090563,BC002939,BP282246,CR606058,CR622878,DA247339 NP_055942,NP_001041675,CAI14362,CAI14363,CAI14364,CAI14365,CAI14366,EAW56345,EAW56346,EAW56347,EAW56348,EAW56349,CAJ78403,BAA34481,BAB59018,BAB79261,BAB79262,BAB79263,BAG52186,AAH02939,Q96S66,ABM83625,ABM86867 Hs.658489 KIAA0761|MCLC|RP11-475E11.6 Mid-1-related chloride channel 1|Mid1-related chloride channel|OTTHUMP00000013438|OTTHUMP00000013442|chloride channel CLIC-like protein 1|mid-1-related chloride channel protein 1 protein-coding 1606817 CLCF1 cardiotrophin-like cytokine factor 1 CLCF1 belongs to the interleukin-6 (IL6; MIM 147620) family of cytokines, which are involved in cell signaling through phosphorylation of gp130 (IL6ST; MIM 600694). IL6 family members share similarity in gene structure and have a 4-helix bundle in their protein structure.[supplied by OMIM] 15272019,10500198,14632778,10448081,18728012,16341674,16782820,15489334,12639901,12477932,11294841,11285233,17436251,10966616 23529 DC393345,NG_013377,NM_001166212,NM_013246,AF176912,AP003419,CH471076,AF172854,AF176911,AK298052,AY049779,BC012939,BC066229,BC066230,BC066231,BM846622,CR592369,GM662943 NP_001159684,NP_037378,AAF00992,EAW74601,EAW74602,AAD54284,AAF00991,BAG60346,AAL15436,AAH12939,AAH66229,AAH66230,AAH66231,Q9UBD9,ABM82451,ABM85641,CAV33841 Hs.502977 BSF-3|BSF3|CISS2|CLC|NNT-1|NNT1|NR6 B-cell stimulating factor 3|B-cell stimulatory factor 3|B-cell-stimulating factor 3|CRLF1 associated cytokine-like factor 1|cardiotrophin-like cytokine factor 1|neurotrophin-1/B-cell stimulating factor-3|novel neurotrophin-1 protein-coding 734112 CLCN1 chloride channel 1, skeletal muscle The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). [provided by RefSeq] 704389,1580863 20399394,18337100,19220292,19697366,19773279,19949657,20047568,20120005,20379614,9122265,1379744,19211598,18816629,18807109,18624224,18337730,18321245,18263754,18227271,18220014,18035046,17998485,17990293,17826470,17693413,17664348,17107341,17097617,16854622,16567465,16321142,16027167,15786415,15623702,15311340,15241802,14718533,14564431,12853948,12691663,12661046,12477932,12150906,12150905,11933197,11840191,11113225,11076863,10720929,10690989,10215406,10198195,9736777,9566422,8845168,8741388,8571958,8533761,8301644,8112288,7981750,7981681,7951242,7874130,7735894,7581380,3983641,14657503,19913121,20628086,20398785 704389 1180 NM_000083,NG_009815,AC073342,AC093673,CH236959,CH471198,L08263,Z25587,Z25752,Z25753,Z25757,Z25760,Z25762,Z25768,Z25872,AY103154,AY103155,BC112156,BC113495,BC143796,M97820,Z25884 NP_000074,AAS07500,EAL23786,EAW51858,EAW51859,CAA80996,CAB56792,CAB56814,AAI12157,AAI13496,CAA81103,P35523,Q75L28,AAI11587 Hs.121483 CLC1|MGC138361|MGC142055 chloride channel protein 1|chloride channel protein, skeletal muscle|clC-1 protein-coding 733366 CLCN2 chloride channel 2 704390,704404,1580863 15505175,15489334,15464978,15388342,15272009,15252188,15010473,12843258,12601004,12477932,11976342,11880269,11306429,10888596,10198195,20187760,7795595,19232516,19191339,18801843,17882904,17762171,17580110,16932951,16469788,16049054,15508929,15507145,16344560,19574231,19710712,19711355 704390 1181 NM_004366,AC078797,CH471052,S77770,AF026004,AK298952,AK302389,AK302759,BC021578,BC072004,BX089717,DB533341,DC403930,AU132760,NG_016422,NM_001171087,NM_001171088,NM_001171089 NP_004357,EAW78248,EAW78249,EAW78250,AAB34722,AAB88807,BAG61051,BAG63705,BAG63970,AAH21578,AAH72004,P51788,NP_001164558,NP_001164559,NP_001164560 Hs.436847 CIC-2|CLC2|ECA2|ECA3|EGI11|EGI3|EGMA|EJM6|EJM8 OTTHUMP00000210514|chloride channel protein 2|clC-2 protein-coding 730986 CLCN3 chloride channel 3 734783,1580863 15489336,15073168,12843258,12842831,12477932,12183454,11967229,11306429,11274166,11230166,11076863,10198195,9843494,9678416,9521585,16033995,15596438,18986326,20139089,21115901,12471024,7665160,18077605,17977943,17976378,17908687,17882904,17869465,17360969,16522634,16381901 734783 1182 NM_001829,AC084724,AC106878,CH471056,AB019542,AF029346,AF086418,AF172729,AK127483,AK304362,BC026256,BC054877,NM_173872,BC136510,BX647119,CR593231,X78520 NP_776297,NP_001820,EAX04782,EAX04783,EAX04784,EAX04785,EAX04786,BAC54560,AAB95161,AAD51034,BAG54512,BAH14168,AAH54877,AAI36511,CAA55280,CAA55281,P51790,Q7Z4M4,CAL37829,AAI46698 Hs.481186 CLC3|ClC-3 H(+)/Cl(-) exchange transporter 3|OTTHUMP00000219505|OTTHUMP00000219506|chloride channel protein 3|chloride transporter ClC-3 protein-coding 1342594 CLCN4 chloride channel 4 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. [provided by RefSeq] 1580863 8125298,7759088,8619474,8069296,10564087,19364886,17023393,16176272,16129671,16034421,15342556,15057754,12477932,10198195,9373149,9110174,8661129,19546591,20087350 1183 NM_001830,NG_012496,AC002364,AC003666,AC121345,CH471074,AB019432,AF052117,AF170492,AK225287,AK289564,AK299611,BC036068,BC130278,BP310547,X77197 ADR83252,NP_001821,AAC83175,EAW98777,EAW98778,BAA77327,AAD50981,BAF82253,BAH13080,AAH36068,AAI30279,CAA54417,P51793,Q4G0X3,Q75N13 Hs.495674 CLC4|ClC-4|ClC-4A|MGC163150 H(+)/Cl(-) exchange transporter 4|OTTHUMP00000022895|chloride channel protein 4|chloride transporter ClC-4 protein-coding 733029 CLCN5 chloride channel 5 This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1302221,704404,628538,1580863 20049483,20513761,12477932,10198195,9931332,9653142,9602200,9259268,9187673,9169421,9062355,8575751,8111383,8099916,7874126,7753256,20421284,12631345,8559248,14675051,19131966,19019917,18540256,18322545,18184518,18029348,18025833,18019214,17262170,17195847,16822791,16807762,16686597,16034421,15772651,15719255,15702377,15692680,15571186,15489223,15086899,14702039,14569459,13679301,12904289,12886045,12637640,12631358,19546586,19546591,19657328,19673950,19713962,19806368,19940036,20501796 1302221,628538 1184 NM_001127899,NM_001127898,NM_000084,NG_007159,AF222686,AL663118,CH471180,AK025562,AK056560,AK092049,AK290940,AK308089,BC051691,BC130429,BC130431,BK000969,BX950885,X81836,X91906 NP_001121371,NP_001121370,NP_000075,CAI41555,EAW89929,BAG51748,BAG52474,BAF83629,AAI30430,AAI30432,DAA01544,CAA57430,CAA63000,P51795,Q7RTN8,ADR83400 Hs.166486 CLC5|CLCK2|DENTS|NPHL1|NPHL2|XLRH|XRN|hCIC-K2|hClC-K2 H(+)/Cl(-) exchange transporter 5|chloride channel protein 5|chloride transporter ClC-5|clC-5 protein-coding 1313372 CLCN6 chloride channel 6 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 6 and 7 belong to a subbranch of this family. Chloride channel 6 has four different alternatively spliced transcript variants. This gene is in close vicinity to two other kidney-specific chloride channel genes, CLCNKA and CLCNKB. [provided by RefSeq] 8543009,9224655,16710414,16344560,15489334,12477932,12370778,12168954,11306429,10500249,10198195,9565675,7584044,17534424,19430483,19729601,19898482,20379614,20416077,19913121,20628086,20466723,21060006 1185 X96391,X99473,X99474,X99475,NM_021736,NM_021735,NM_021737,NG_008766,AF009257,AF398930,AL021155,AL953897,CH471130,X99472,AK289999,AK294764,AK307098,BC050457,BC117420,BC117424,BC143844,D28475,DA229615,DA935587,X83378,NM_001286 CAA58292,CAA65255,CAA67836,CAA67837,CAA67838,P51797,Q5SNW4,Q8IZX0,NP_001277,NP_068504,NP_068503,NP_068505,AAB69287,AAN40862,CAI23401,CAI23402,CAI23403,CAI23404,CAI23405,CAI23406,CAI15890,CAI15891,CAI15892,CAI15893,CAI15894,CAI15895,EAW71710,EAW71711,EAW71712,EAW71713,EAW71714,EAW71715,EAW71716,CAA67835,BAF82688,BAG57898,AAI17421,AAI17425,BAA05836,ADR83387 Hs.193043 CLC-6|KIAA0046 chloride channel protein 6|chloride transport protein 6 protein-coding 731480 CLCN7 chloride channel 7 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq] 1600865,737783,704404,1580863 11207362,11157797,10084593,9565675,8617505,8573024,8543009,20424301,19371798,19070589,18755304,18449189,17164308,17081983,16368748,16234969,15692563,15489334,15111300,14702039,14584882,12929941,12522560,12477932,12082624,11741829,16525474,19288050,19453261,19507210,19543743,19953639,19904698 1600865,737783 1186 NM_001114331,NG_007567,AE006467,AJ001910,AL031600,AL031705,CH471112,AF224741,AI684019,AK056551,AK096963,AK122944,AK128285,AK130196,AK291404,AK292136,AK304796,AK315978,BC004946,BC006158,BC012737,BC015235,BC109196,CR604762,CR613527,U88844,Z67743,NM_001287 NP_001278,NP_001107803,AAK61282,CAA05083,CAB53065,EAW85653,EAW85654,EAW85655,AAF34711,BAG51745,BAG53401,BAG53810,BAG54655,BAF84093,BAF84825,BAG65546,BAH14349,AAH04946,AAH06158,AAH12737,AAI09197,AAB48530,CAA91556,P51798,Q2VPA2,Q4VXY0,Q96RY8,Q9BRN4,Q9BSM4,ABM87432,ABW03889 Hs.459649 CLC-7|CLC7|FLJ26686|FLJ39644|FLJ46423|OPTA2|OPTB4 H(+)/Cl(-) exchange transporter 7|OTTHUMP00000041762|chloride channel protein 7 protein-coding 68651 CLCNKA chloride channel Ka This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300296,1300378,1580863 19913121,20628086,8041726,18648499,18094726,17652939,17562318,17510212,17081983,16849430,15489334,15044642,12477932,11734858,9373149,9046241,8812470,8544406,8125298,20805576 1300296,1300378 1187 NM_004070,NM_001042704,AL355994,CH471167,U93878,AK225550,AK290814,AK293476,AK298285,BC035373,BC048282,BC053869,Z30643,AK293586,NG_009359 NP_004061,NP_001036169,CAI16137,CAI16138,EAW51763,AAB65148,BAF83503,BAG56967,BAG60545,AAH48282,AAH53869,CAA83120,P51800,Q5T5Q4,BAH11540 Hs.591533,Hs.352243 CLCK1|ClC-K1|MGC61490|hClC-Ka OTTHUMP00000011119|chloride channel protein ClC-Ka|chloride channel, kidney, A protein-coding 736095 CLCNKB chloride channel Kb Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter Syndrome. CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney. [provided by RefSeq] 1600683,1600684,1300379,1580863 19913121,20628086,19096086,19807735,20805576,8041726,9326936,19226700,19058262,18648499,18094726,17997379,17652939,17622951,17510212,17143181,17137217,16902263,16849430,16391491,16344560,16003175,15671602,15531551,15148291,15044642,14702039,14675050,14502078,12477932,12472765,11865110,11734858,11102542,10906158,8812470,8544406 1600683,1600684,1300379 1188 DA369686,NG_013079,NM_001165945,NM_000085,AL355994,CH471167,U93879,AK098217,AK292335,BC020873,BC033806,DA623867,DA624942,DA628551,S80315,Z30644 NP_001159417,NP_000076,CAI16140,CAI16141,CAI16142,EAW51764,EAW51765,EAW51766,AAB65149,BAG53595,BAF85024,AAH20873,AAB35898,CAA83121,P51801,Q5T5Q7,Q8WW53 Hs.352243 CLCKB|ClC-K2|ClC-Kb|MGC24087|hClC-Kb chloride channel protein ClC-Kb|chloride channel, kidney, B protein-coding 1350902 CLCP1 Charcot-Leyden crystal protein pseudogene 1 266626 NG_002369,AC004019 pseudo 68626 CLDN1 claudin 1 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq] 634856,1580863 20490282,15260435,11382769,18036336,20685314,9647647,19184060,19077439,19073886,19052094,18949385,18817843,18756604,18711353,18550469,18480547,18337570,18234789,18227718,18211898,18204077,18095941,17970035,17941058,17784784,17644758,17611630,17585317,17440968,17418912,17359339,17325668,17283368,17047970,16253248,16232121,15965503,15820559,15743508,15547692,15521008,15489334,15070779,14515355,12975309,12909588,12736707,12477932,12475568,12231346,12164927,12067061,12021270,11939410,11889141,11689568,11283726,11247307,11071387,10828592,10690502,10601346,10562289,9931503,9892664,16697675,20871038,21107309,16169070,16344560,18802961,19297469,19414319,19540561,19578981,19661441,19674288,19706201,19706291,19739116,19776133,19881542,19897486,19903817,19924644,19962368,20379614,20478039,20546350 634856 9076 AC009520,AF260403,AF260406,CH471052,AA484795,AF086514,AF101051,AF114837,AF115546,AF134160,AK296934,AK312866,AY358652,BC012471,CR457138,EF564137,NM_021101,DA907275,NG_021418 ABM87822,NP_066924,AAK20945,EAW78107,EAW78108,AAD16433,AAP97236,AAD22962,AAF61393,BAG59485,BAG35718,AAQ89015,AAH12471,CAG33419,ABQ42705,O95832,Q7Z4X9,ABM82383 Hs.439060 CLD1|ILVASC|SEMP1 claudin-1|senescence-associated epithelial membrane protein 1 protein-coding 1317558 CLDN10 claudin 10 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18036336,12067061,11991713,11283726,11247307,10690502,10508613,19383724,18025272,16344560,15701840,15489334,14702039,12477932,12475568,12231346,19706201,19924644,20379614 9071 NM_182848,NM_006984,NM_001160100,AL139376,AL357061,AL627382,CH471085,AF339794,AK055855,AK315737,BC010920,BG697724,BU930613,CR456845,DA133712,DA636757,DB544708,U89916 NP_878268,NP_008915,NP_001153572,CAH71596,CAH71597,CAH71598,CAI16403,EAX08955,BAB71030,BAG38092,AAH10920,CAG33126,AAC79506,P78369,Q5W075,Q6IBF9,Q96N78,ABM83757,ABM87076 Hs.534377 CPETRL3|OSP-L OSP-like protein|claudin-10 protein-coding 732844 CLDN11 claudin 11 The protein encoded by this gene belongs to the claudin family of tight junction associated proteins and is a major component of central nervous system myelin that is necessary for normal CNS function. There is growing evidence that the protein determines the permeability between layers of myelin sheaths via focal adhesion and, with its expression highly regulated during development, may play an important role in cellular proliferation and migration. In addition, the protein is a candidate autoantigen in the development of autoimmune demyelinating disease. [provided by RefSeq] 1580863 20546350,18412169,15489334,12730962,12477932,12475568,12231346,11591653,11309411,11283726,11247307,10797530,10700007,10690502,10612400,10582615,8797478,8661061,18036336,20850723,16344560,19241088,19622796,19706201,19956721 5010 NM_005602,AC008041,CH471052,AF085871,AJ245901,AJ245902,AK312923,BC013577,BT019402,BT019403,CR595007,DC328248,AK294087,DA258090,NM_001185056 NP_005593,EAW78505,EAW78506,EAW78508,EAW78509,CAB55487,BAG35768,AAH13577,AAV38209,AAV38210,O75508,ABM81906,ABM85079,BAG57428,NP_001171985 Hs.31595 OSP|OTM claudin-11|oligodendrocyte transmembrane protein|oligodendrocyte-specific protein protein-coding 1343629 CLDN11CL claudin 11 C-terminal like 404198 1314174 CLDN12 claudin 12 Claudins, such as CLDN12, are components of epithelial cell tight junctions. Tight junctions regulate movement of solutes and ions through the paracellular space and prevent mixing of proteins and lipids in the outer leaflet of the apical and basolateral plasma membrane domains (Acharya et al., 2004).[supplied by OMIM] 1580863 18287530,17047970,16381901,15489336,15489334,15068973,14698084,12853948,12690205,12477932,12475568,18036336,12231346,12067061,11912246,11585919,11283726,11247307,11230166,11076863,10690502,16169070,16344560,17567994,19706201,19924644 9069 NM_012129,AC006153,AJ250713,CH236949,CH471091,AK312480,AL136770,BC036754,BC068532,CR533470,DA121583,DA230901,DA330572,NM_001185072,NM_001185073,DB062973,DB224591 NP_036261,AAP22363,CAB60617,EAL24163,EAW76876,EAW76877,BAG35384,CAB66704,AAH36754,AAH68532,CAG38501,P56749,Q6FIF6,CAL37593,NP_001172001,NP_001172002 Hs.258576 OTTHUMP00000067945|OTTHUMP00000082755|OTTHUMP00000196958|OTTHUMP00000196959|OTTHUMP00000212898|claudin-12 protein-coding 1319353 CLDN14 claudin 14 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1600866,1600867,1580863 18036336,19561606,19706201,20379614,19254696,15880785,15769849,15489334,12975309,12791041,12477932,12475568,12231346,11283726,11247307,11163249,10830953,10690502,7644498,16780588 1600867 23562 NM_144492,NM_012130,NG_011777,NM_001146077,NM_001146078,NM_001146079,AJ132445,AP000695,AP000696,AP001726,CH471079,AF314090,AJ566765,AJ566766,AY355348,AY355349,AY358533,BC012126 NP_652763,NP_036262,NP_001139549,NP_001139550,NP_001139551,CAA10669,BAA95509,EAX09740,AAG60052,CAD97762,CAD97763,AAR05858,AAR05859,AAQ88897,AAH12126,O95500,ABM83144,ABM83172,ABM86340 Hs.660278 DFNB29 OTTHUMP00000109046|OTTHUMP00000109049|claudin-14 protein-coding 1321720 CLDN15 claudin 15 1580863 14702039,13129853,12477932,12475568,12231346,12055082,11912246,11283726,11247307,11095601,10690502,18036336,16344560,16798613,19420749,19673046,19706201 24146 NM_014343,AC006329,CH471197,AJ245738,AK056103,AK124705,BC010160,AA514265,DB158141,DN999248,NM_001185080 NP_055158,EAW50210,EAW50211,CAB52587,BAG51627,AAH10160,P56746,Q96FX9,NP_001172009 Hs.38738 FLJ42715|MGC19536 OTTHUMP00000197704|OTTHUMP00000211472|OTTHUMP00000211473|claudin-15 protein-coding 1351544 CLDN16 claudin 16 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. [provided by RefSeq] 1599615,1599616,1580863 10390358,17207965,18036336,20511716,19082451,18816383,18442037,18003771,17551748,16924549,16528408,16234325,15489334,14628289,12477932,12475568,12231346,11518780,11283726,11247307,10878661,10690502,668721,20664984,12736707,19165416,19695239,19706201,8889548 1599615,1599616 10686 NM_006580,NG_008149,AC009520,CH471052,AF152101,AK314955,BC069662,BC069682,BC069759,BC069777,BF034334,DQ305102,CB241927 NP_006571,EAW78106,AAD43096,AAH69662,AAH69682,AAH69759,AAH69777,ABC47832,Q9Y5I7,ADQ32906 Hs.251391 HOMG3|PCLN1 PCLN-1|claudin-16|hypomagnesemia 3, with hypercalciuria and nephrocalcinosis|paracellin-1 protein-coding 1316669 CLDN17 claudin 17 1580863 18036336,16780588,15489334,12975309,12736707,12477932,12475568,12231346,12067061,11283726,11247307,10830953,10690502,19706201,20339536 26285 NM_012131,AJ250712,AP000884,AP001707,CH471079,AY358094,BC101503,BC101505 NP_036263,CAB60616,BAA95566,EAX09904,AAQ88461,AAI01504,AAI01506,P56750 Hs.258589 MGC126552|MGC126554 claudin-17|human CLDN17 gene for claudin-17 protein-coding 1351425 CLDN18 claudin 18 CLDN18 belongs to the large claudin family of proteins, which form tight junction strands in epithelial cells (Niimi et al., 2001 [PubMed 11585919]).[supplied by OMIM] 1580863 19047087,18831034,18580680,18223320,18032479,17932229,17459057,16341674,12975309,12477932,12475568,12231346,11585919,11283726,11247307,10690502,18036336,20846265,19706201 51208 NM_001002026,NM_016369,AC016252,CH471052,AF221069,AF349452,AK098474,AK298103,AY102073,AY358479,BC063845,BC142708,BC146668,BM785703 NP_001002026,NP_057453,EAW79092,EAW79093,EAW79094,AAF26448,AAL15637,BAG60388,AAQ88843,AAI42709,AAI46669,P56856 Hs.655324 DKFZp564B2062|SFTA5|SFTPJ claudin-18|surfactant associated 5|surfactant associated protein J|surfactant, pulmonary associated protein J protein-coding 1312766 CLDN19 claudin 19 The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 16427635,17033971,15489334,14702039,12477932,12475568,12231346,11283726,11247307,10690502,8889548,18036336,19706201 149461 NM_148960,NM_001123395,AC098484,CH471059,CS223385,AF497644,AK056118,AK096063,AK291197,BC030524,BM681600,CR606681,AK298992,NG_008993,NM_001185117 NP_683763,NP_001116867,EAX07146,EAX07147,CAJ46932,AAQ07256,BAC04691,BAF83886,AAH30524,Q8N6F1,BAH12918,NP_001172046 Hs.496270 claudin-19 protein-coding 1352349 CLDN2 claudin 2 Members of the claudin protein family, such as CLDN2, are expressed in an organ-specific manner and regulate the tissue-specific physiologic properties of tight junctions (Sakaguchi et al., 2002 [PubMed 11934881]).[supplied by OMIM] 634856,1580863 19120888,19082451,18942115,18711353,18602630,18509255,18500171,18366005,18287530,18198187,17970035,17640674,17418912,17314274,17283368,17103306,16328347,16303743,15772651,15498874,15489334,15389642,15070779,14751232,12975309,12700140,12477932,12231346,11934881,11283726,11247307,10690502,10601346,9892664,9647647,18036336,16189514,12475568,20700059,16344560,19214581,20133805,20143085,20204275 634856 9075 AL158821,AL591849,CH471120,CS051165,AF177340,AF250558,AK075371,AK075405,AK312515,AY358474,BC014424,NM_020384,BC071747,FB746672,AA973123,DA743944,NG_016445,NM_001171092,NM_001171095 NP_065117,CAD23055,EAX02730,EAX02731,EAX02732,CAI72078,AAG17984,AAF98151,BAC11575,BAG52130,BAG35416,AAQ88838,AAH71747,P57739,ABM83142,ABM86338,AAH14424,CAT04641,NP_001164563,NP_001164566 Hs.522746,Hs.728373 SP82 SP82|claudin-2 protein-coding 1343820 CLDN20 claudin 20 1580863 16836752,15489334,14574404,12477932,12475568,12231346,11283726,11247307,10690502,1124737,17679949,18036336,18480174,17207965,19706201 49861 NM_001001346,AL139101,CH471051,BC020838 NP_001001346,CAI20505,EAW47691,AAH20838,P56880,ADQ32197 Hs.727946 claudin-20 protein-coding 1345716 CLDN21 claudin 21 53843 XM_210581 1349320 CLDN22 claudin 22 1580863 18036336,15815621,14702039,12736707,12475568,12231346,11283726,11247307,10690502,19706201 53842 NM_001111319,AC093844,CH471056,AK098064,AK303864 NP_001104789,EAX04693,Q8N7P3,BAG64803 Hs.333179 CLDN21|FLJ51450 claudin-22 protein-coding 1319100 CLDN23 claudin 23 1580863 18154640,15489334,12736707,12477932,11181995,8895530,16273224,18036336,19673046,19706201 137075 NM_194284,AC087269,CH471157,AK123547,BC016047,BC125148,BC125149,Z36835 NP_919260,EAW65564,BAC85642,AAI25149,AAI25150,Q6ZW63,Q96B33 Hs.183617 CLDNL|hCG1646163 2310014B08Rik|claudin-23 protein-coding 3378218 CLDN24 claudin 24 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq] 18036336,12736707,15815621,19706201 100132463 AC093844,NM_001185149 A6NM45,NP_001172078 Hs.727475 OTTHUMP00000218625|claudin-24-like|putative claudin-24 protein-coding 3436494 CLDN25 claudin 25 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq] 18036336,11181995,12736707,19706201 644672 AP003170,CH471065,NM_001101389 C9JDP6,EAW67230,NP_001094859 Hs.705360 claudin 25|claudin-like|hCG1646420|putative claudin-25 protein-coding 68632 CLDN3 claudin 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq] 634856,1580863 9334247,15174142,19231096,19208807,19184060,19137073,19082451,18817843,18774778,18550469,18477216,18439941,18384777,18313739,18251778,17986852,17647191,17545541,17459057,17418912,17326053,17103306,16627685,16341674,16287068,16253248,15905176,15743508,15489334,15240533,15070779,12909588,12853948,12736707,12477932,12475568,12231346,18036336,11691807,11382769,11283726,11247307,10690502,10601346,10562289,9892664,9441748,16169070,19429681,19525861,19706201,19924644,20053926,20143085,20204275,20478039,20655293 634856 1365 NM_001306,NG_012023,AC093168,AF007189,CH471200,CQ947188,AB000714,AK313276,BC009083,BC016056,BM764277 NP_001297,AAS07555,AAC78277,EAW69641,CAI29151,BAA22986,BAG36084,AAH16056,O15551,Q75L79,ABM83137,ABW03471 Hs.647023 C7orf1|CPE-R2|CPETR2|HRVP1|RVP1 CPE-R 2|CPE-receptor 2|Clostridium perfringens enterotoxin receptor 2|claudin-3|ventral prostate.1 protein homolog|ventral prostate.1-like protein protein-coding 1317413 CLDN4 claudin 4 This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq] 634856,1580863,2317580,2317600,2317583,2317592,2317602 16714763,16439986,16287068,16253248,16236711,15862967,15743508,15643498,15489334,15366421,15070779,14702039,14559813,12853948,12736707,12700140,12477932,12475568,12231346,11283726,11247307,10690502,10601346,9878248,9087440,16341674,9334247,9892664,19447895,19390931,19374770,19231096,19184060,19142967,19120888,19082451,18954444,18786529,18752049,18648369,18550469,18477216,18384777,18313739,18283635,18251778,17962811,17709988,17678893,17651017,17545541,17459057,17418912,17359339,17326053,16969486,16949040,18036336,20175704,20070312,19180924,19619303,19657234,19661441,19706201,19884339,19903817,19924644,20053926,20086175,20163034,20204275,20478039 634856,2317580,2317600,2317583,2317592,2317602 1364 CR612437,CR613489,CR613588,CR613719,CR614074,CR615421,CR616166,CR616350,CR616406,CR616848,CR617768,CR618234,CR618408,CR620422,CR621460,CR622785,CR624917,AC093168,CH471200,CQ947190,AB000712,AK026651,AK124076,AK126315,AK126462,BC000671,BM768799,BT006989,CR591780,CR592497,CR594243,CR597578,CR598165,CR599105,CR600329,CR601702,CR603209,CR605164,CR606460,CR607477,CR609134,CR609493,NM_001305,NG_012868 O14493,Q75L80,ACE87122,ACE86446,NP_001296,AAS07556,EAW69639,CAI29152,BAA22984,BAG54000,BAG54307,BAG54330,AAH00671,AAP35635 Hs.647036,Hs.699253 CPE-R|CPER|CPETR|CPETR1|WBSCR8|hCPE-R CPE-receptor|Clostridium perfringens enterotoxin receptor 1|OTTHUMP00000160507|OTTHUMP00000211778|Williams-Beuren syndrome chromosomal region 8 protein|claudin-4 protein-coding 68644 CLDN5 claudin 5 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1358511,1580863 18036336,9192844,19538285,19231096,19194274,19168871,18817843,18797402,18604199,18513742,18065521,17765294,17761522,17585317,17103306,16959372,16514648,16344560,16181776,16158492,15820333,15617864,15489334,15461802,15363474,15260435,14702039,14515355,12909588,12743111,12734665,12477932,12475568,12403818,12231346,11944085,11283726,11247307,10690502,10601346,9892664,9441748,9373149,8889548,8125298,16697675,19706201,19924644,20044634,20452046,20478039,20525806 1358511 7122 BC032363,BT007254,BU688528,CB993999,CR456420,CR609826,CR616127,CR626038,DB023636,NM_001130861,NM_003277,AC000082,CH471176,AF000959,AK092561,AK124019,AK222466,BC002404,BC019290 AAH19290,AAH32363,AAP35918,CAG30306,O00501,Q53HW4,CAK54412,CAK54711,NP_001124333,NP_003268,EAX03034,EAX03035,AAC51364,BAG52573,BAD96186,AAH02404 Hs.505337 AWAL|BEC1|CPETRL1|TMVCF OTTHUMP00000197819|TMDVCF|androgen withdrawal and apoptosis induced protein RVP1-like|claudin 5|claudin-5|transmembrane protein deleted in VCFS|transmembrane protein deleted in velocardiofacial syndrome protein-coding 1318839 CLDN6 claudin 6 634856,1580863 19220299,10690502,10601346,10508865,9892664,18036336,19288010,18234789,17804490,16303743,15541721,15489334,15454572,15366020,15146197,12975309,12896909,12749857,12736707,12477932,12475568,12231346,12110008,12060405,11923212,11912246,11668606,11283726,11247307,20874001,19706201,19773279,19960275,20118769,20215972,20367941 634856 9074 NM_021195,AC108134,AJ249735,CH471112,CS051119,AF125306,AK075329,AY358480,BC008934,BT007399,BX444798,CN420342,CR614114 NP_067018,CAB56533,EAW85431,EAW85432,CAI72055,AAK02013,BAG52111,AAQ88844,AAH08934,AAP36063,P56747 Hs.533779 OTTHUMP00000159248|claudin-6|skullin protein-coding 68646 CLDN7 claudin 7 Claudins, such as CLDN7, are involved in the formation of tight junctions between epithelial cells. Tight junctions restrict lateral diffusion of lipids and membrane proteins, and thereby physically define the border between the apical and basolateral compartments of epithelial cells (Zheng et al., 2003 [PubMed 14502431]).[supplied by OMIM] 634856,1580863 9892664,19231096,19194274,19120888,18981000,18802961,18799195,18667601,18560860,18550469,18519685,18439941,18357381,18349130,18298564,17962811,17922590,17611659,17579117,17418912,17103306,17060315,16341674,16189514,16054130,16049341,15790437,15489334,15475928,14502431,12742348,12673207,12477932,12475568,12231346,11283726,11247307,10690502,10601346,9441748,9373149,8125298,16368003,18036336,20874001,19661441,19706201,19924644,19960275,20204275,20478039 634856 1366 NM_001307,AC003688,CH471108,AF093823,AJ011497,AK225418,AK313958,BC001055,BC071844,BM818537,BT006829,CR594337,CR607084,CR611223,CV575841,NM_001185022,NM_001185023 NP_001298,EAW90228,EAW90229,AAP97219,CAA09626,BAG36674,AAH01055,AAH71844,AAP35475,O95471,NP_001171951,NP_001171952 Hs.513915 CEPTRL2|CLDN-7|CPETRL2|Hs.84359|claudin-1 OTTHUMP00000128374|claudin-7|clostridium perfringens enterotoxin receptor-like 2 protein-coding 1318427 CLDN8 claudin 8 Claudins, such as CLDN8, are components of epithelial cell tight junctions. Tight junctions regulate movement of solutes and ions through the paracellular space and prevent mixing of proteins and lipids in the outer leaflet of the apical and basolateral plasma membrane domains (Acharya et al., 2004).[supplied by OMIM] 634856,1580863 16780588,19302533,19000657,18799195,17047970,15489334,14702039,12975309,12736707,12477932,12475568,12231346,12067061,11283726,11247307,10830953,10690502,10601346,9892664,9373149,8125298,18036336,20339536,16344560,19706201,19924644 634856 9073 NM_199328,AJ250711,AP000884,AP001707,CH471079,CS072416,AK022269,AK223512,AL049977,AY358707,BC020866,BC058004,AW235670,DA629490 NP_955360,CAB60615,BAA95567,EAX09901,EAX09902,CAI93554,BAG51070,BAD97232,AAQ89070,AAH20866,AAH58004,P56748,ABM82928,ABM86118 Hs.162209 OTTHUMP00000101915|claudin-8 protein-coding 1319096 CLDN9 claudin 9 1580863 18036336,18234789,17804490,15489334,14702039,14698084,12742348,12736707,12477932,12475568,12231346,11912246,11283726,11247307,11095601,10690502,9441748,20874001,19696885,19706201,19773279,19960275 9080 NM_020982,AC004643,AC108134,AJ130941,CH471112,CQ947192,AI791760,AK091002,AY390431,BC051870,BC065830,CD105948 NP_066192,CAA10254,EAW85433,CAI29153,AAQ97597,AAH51870,AAH65830,O95484,Q6TPI7 Hs.296949 claudin-9 protein-coding 1349033 CLDND1 claudin domain containing 1 17316888,16303743,15489334,12975309,12477932,12036590,11042152,10022985,17207965 56650 NM_001040199,NM_001040200,NM_001040181,NM_001040183,NM_019895,NM_001040182,AC021660,CH471052,AA811441,AF161522,AJ270952,AK075367,AL080097,AW449183,BC001757,BC013610,BC022551,BC095441,BF967477,BI552824,BU784186,CD520771,CR591642,CR595974,CR599414,CR600404,CR613750,DB461184,DB465920,EB386420,AY359121 NP_001035289,NP_001035290,NP_001035271,NP_001035273,NP_063948,NP_001035272,EAW79856,EAW79857,EAW79858,EAW79859,EAW79860,AAF29137,CAB89684,BAG52123,CAB45709,AAQ89479,AAH01757,AAH13610,AAH22551,AAH95441,Q9NY35,ADQ31645 Hs.531371 C3orf4|GENX-3745|MGC111162|MGC3316|MGC9861 OTTHUMP00000217407|OTTHUMP00000217408|OTTHUMP00000217423|OTTHUMP00000217424|OTTHUMP00000217562|OTTHUMP00000217563|OTTHUMP00000217584|OTTHUMP00000217585|OTTHUMP00000217586|OTTHUMP00000217587|OTTHUMP00000217609|OTTHUMP00000217610|OTTHUMP00000217611|OTTHUMP00000217622|OTTHUMP00000217623|OTTHUMP00000217625|OTTHUMP00000217627|OTTHUMP00000217628|OTTHUMP00000217638|chromosome 3 open reading frame 4|claudin domain containing 1 protein|claudin domain-containing protein 1|membrane protein GENX-3745 protein-coding 1604242 CLDND2 claudin domain containing 2 15489334,12477932 125875 NM_152353,AC008750,CH471135,BC029518 NP_689566,EAW72005,AAH29518,Q8NHS1,ABM81894,ABM85068 Hs.720536 MGC33839 claudin domain-containing protein 2 protein-coding 1603407 CLEC10A C-type lectin domain family 10, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 8598452,15489334,12477932,8889548,19776380,19834553,20237496 10462 NM_006344,BC039011,BI910082,BM974488,BU687211,CR620226,D50532,NM_182906,AC120057,CH471108,AK291975,AK292363,AL546075,BC027858 AAH39011,BAA09101,Q8IUN9,NP_006335,NP_878910,EAW90265,EAW90266,EAW90267,BAF84664,BAF85052,AAH27858 Hs.54403 CD301|CLECSF13|CLECSF14|HML|HML2|MGL C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13 (macrophage-derived)|C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)|C-type lectin domain family 10 member A|C-type lectin superfamily member 14|macrophage C-type lectin|macrophage lectin 2 (calcium dependent) protein-coding 1604062 CLEC11A C-type lectin domain family 11, member A This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq] 17207965,11920266,9705843,9442024,19416273,15489334,15234225,14746805,12900775,12477932,11803813,10807776,10198175,9207134,3304620,19528216,19884328 6320 NM_002975,AC010325,AF087658,CH471135,AB009244,AF020044,AK314141,AY870345,BC005810,BQ014793,BT019673,BU615665,CR606484,CR608691,D86586,FB659836 NP_002966,AAD26533,EAW71895,EAW71896,EAW71897,BAA32404,AAC39569,BAG36831,AAX62798,AAH05810,AAV38479,BAA21499,A0AUH1,Q5U0B9,Q9Y240,ADQ32647,CAS01773 Hs.727919,Hs.512680 CLECSF3|LSLCL|P47|SCGF C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 3|C-type lectin domain family 11 member A|C-type lectin superfamily member 3|lymphocyte secreted C-type lectin|lymphocyte secreted long form of C-type lectin|stem cell growth factor|stem cell growth factor; lymphocyte secreted C-type lectin protein-coding 1605851 CLEC12A C-type lectin domain family 12, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq] 12945048,12477932,19494282,18350551,17609428,16838277,16239426,15548716,15238421,14739280,10508765 160364 HI565710,NM_138337,NM_201623,AC091814,CH471094,AF247788,AK314001,AY426759,AY498550,AY498551,AY498552,AY547296,BC027967,BC063424,BC126289,BC126291,BE242761,BQ017053,CD642076 CBX47387,NP_612210,NP_963917,EAW96132,EAW96133,AAL95693,BAG36713,AAR84594,AAS00605,AAS00606,AAS00607,AAT11783,AAH63424,AAI26290,AAI26292,Q5QGZ9 Hs.190519 CLL-1|CLL1|DCAL-2|MGC70602|MICL C-type lectin domain family 12 member A|C-type lectin protein CLL-1|C-type lectin superfamily|C-type lectin-like molecule 1|C-type lectin-like molecule-1|dendritic cell associated lectin 2|dendritic cell-associated lectin 2|myeloid inhibitory C-type lectin-like receptor protein-coding 1605796 CLEC12B C-type lectin domain family 12, member B 17562706,12975309,12477932 387837 NM_205852,NM_001129998,AC024224,CH471094,AI655492,AK128243,AY358810,BC036036,BC136805,BC136806,DQ368812,AK131027 NP_995324,NP_001123470,EAW96135,EAW96136,EAW96137,EAW96138,BAC87350,AAQ89170,AAI36806,AAI36807,ABC96323,Q2HXU8,ADR82900 Hs.127937 UNQ5782 C-type lectin domain family 12 member B|macrophage antigen h protein-coding 1603556 CLEC14A C-type lectin domain family 14, member A 15489334,15340161,12975309,12508121,12477932 161198 NM_175060,AL161751,CH471078,AF161403,AY358395,AY573061,BC031567,BX248017,CR594082,AY606132 NP_778230,EAW65835,AAF28963,AAQ88761,AAS77882,AAT92280,AAH31567,CAD62342,Q86T13,Q9P096 Hs.525307 C14orf27|CEG1 C-type lectin domain family 14 member A|ClECT and EGF-like domain containing protein|EGFR-5|epidermal growth factor receptor 5 protein-coding 1604037 CLEC16A C-type lectin domain family 16, member A 2313978 20694011,20805369,19073967,19525955,19506219,19375175,19337309,19317741,19264985,19221398,19178520,18987646,18978792,18946483,18940880,18593762,17660530,17632545,17554300,17554260,16344560,15489334,14702039,12477932,12168954,9205841,18650830,19305408,19430480,19525953,19734133,19834503,19838195,19851296,19865102,19879194,19951419,20043139,20095854,20190752,20198315,20203524,20220768,20368992,20372818,20379614,20036365,20849399,20962850 2313978 23274 NM_015226,AC007014,AC007220,AC133065,CH471112,AB002348,AK125825,AK126771,AW072095,BC009721,BC112897,CR618391,DB069341,NG_016757 NP_056041,EAW85164,EAW85165,BAA20807,AAI12898,Q2KHT3 Hs.35490 Gop-1|KIAA0350|MGC111457 protein CLEC16A protein-coding 1601795 CLEC17A C-type lectin domain family 17, member A 19419970,12477932 388512 NM_207390,AC010527,AC135052,AC140008,CH471106,BC140848,BC144664,BC144665 NP_997273,EAW84437,AAI40849,AAI44666,Q6ZS10 Hs.567933 FLJ45910 C-type lectin domain family 17, member A|prolectin protein-coding 1601919 CLEC18A C-type lectin domain family 18, member A 16303743,14702039,12975309,12477932,17207965 348174 NM_182619,NM_001136214,AC026468,CQ782710,AF428259,AF521893,AK074773,AK096051,AK289884,AK298310,BC008616,BC078143,BC141808 NP_872425,NP_001129686,CAF85945,AAP97299,AAP80866,BAC11199,BAF82573,BAG60564,AAH08616,AAH78143,AAI41809,A5D8T8,Q7Z4U9,Q8NCF0,ACE87294,ACE86613,ADQ31998 Hs.592064 CLEC18C|FLJ77955|MGC164804|MRCL|MRCL1 C-type lectin domain family 18 member A|C-type lectin domain family 18 member C|mannose receptor-like 1|mannose receptor-like protein 2|mannose receptor-like protein 3|secretory protein LOC348174 protein-coding 1605475 CLEC18B C-type lectin domain family 18, member B 16344560,12975309,8889548 497190 NM_001011880,AC009053,AK293982,AY358373,BM695392,DA375446,DC309733 NP_001011880,BAG57351,AAQ88739,Q6UXF7 Hs.556045,Hs.592064,Hs.454670 MRCL2 C-type lectin domain family 18 member B|mannose receptor-like 2|mannose receptor-like protein 1|secretory protein LOC497190 protein-coding 1605549 CLEC18C C-type lectin domain family 18, member C 12477932 283971 NM_173619,AC009060,AF448856,AL833339,BC039068,BC062573 NP_775890,AAP41924,AAH39068,Q7Z7I8,Q8NCF0 Hs.556045 MGC34761|MRCL|MRCL3 C-type lectin domain family 18 member C|mannose receptor-like 3|mannose receptor-like protein 3 protein-coding 1343742 CLEC1A C-type lectin domain family 1, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. Alternative splice variants have been described but their biological nature has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. 10671229,16303743,15489334,14702039,12975309,12945048,12477932,11745369,10508765 51267 NM_016511,AC024224,CH471094,AF200949,AK075114,AK091989,AK291584,AK313589,AY358587,BC039072,BC067746,BM920364,BQ722745,CR591145,CR591231,CR598502,CR604680,CR606141,CR614400,CR619172,AK300979 NP_057595,EAW96140,EAW96141,EAW96142,EAW96143,AAF36830,BAC11410,BAG52458,BAF84273,AAQ88950,AAH39072,AAH67746,Q8NC01,ABM83366,ABM86577,BAG62601 Hs.29549 CLEC1|MGC34328 C-type lectin domain family 1 member A|C-type lectin-like receptor 1|C-type lectin-like receptor-1|CLEC-1 protein-coding 1346944 CLEC1B C-type lectin domain family 1, member B Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells.[supplied by OMIM] 10671229,18955485,18707544,18583525,18215137,17616532,17132623,16940507,16541075,16511244,16174766,15489334,12975309,12477932,11745369,16189514,20482880,20549515,19483399,19785988,19824697,20154214,20154219,20237496 51266 NM_001099431,NM_016509,AC091814,CH471094,AF124841,AY358599,BC029554,BX647321 NP_001092901,NP_057593,EAW96134,AAF36777,AAQ88962,AAH29554,Q9P126 Hs.409794 1810061I13Rik|CLEC2|CLEC2B|PRO1384|QDED721 C-type lectin domain family 1 member B|C-type lectin-like receptor 2|C-type lectin-like receptor-2|CLEC-2 protein-coding 1348681 CLEC2A C-type lectin domain family 2, member A CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007 [PubMed 18046548]).[supplied by OMIM] 18550855,18046548,12975309,19630798,20194751 387836 NM_001130711,AC091814,CH471094,AY359126,EF127467,EU095393,EU095394 NP_001124183,EAW96129,EAW96130,AAQ89483,ABO33172,ABW79912,ABW79913,Q6UVW9 Hs.527665 KACL|PILAR|UNQ5792 C-type lectin domain family 2 member A|INPE5792|keratinocyte-associated C-type lectin|proliferation-induced lymphocyte-associated receptor protein-coding 1604835 CLEC2B C-type lectin domain family 2, member B This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq] 8889548,9038101,18029348,18922855,15489334,12945048,12477932,10783260,10508765,10072769,16712791,20237496 9976 NM_005127,AC007068,AC091814,CH471094,AB015628,AK307334,AK313916,AL550908,AY142147,BC005254,BG503026,BG540007,BG779377,BM973072,CA447397,CB160326,CR604988,X96719,AK311232 NP_005118,EAW96127,EAW96128,BAA76495,BAG36638,AAN46677,AAH05254,CAA65480,Q92478,ABM83435,ABM86649 Hs.85201 AICL|CLECSF2|HP10085|IFNRG1 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)|C-type lectin domain family 2 member B|C-type lectin superfamily member 2|IFN-alpha-2b-inducing-related protein 1|IFN-alpha2b-inducing related protein 1|activation-induced C-type lectin protein-coding 1349023 CLEC2D C-type lectin domain family 2, member D This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified, but the full-length nature of every transcript has not been defined. [provided by RefSeq] 10541800,18593762,18465072,18453569,16339513,16339512,15123656,15104121,14990792,14753741,12858173,12477932,17554300,20415786,16344560,20843815 29121 NM_001004419,NM_013269,AC007068,AC010186,AY144606,CH471094,AF133299,AF285087,AF285088,AF285089,AK310150,AK310554,AK313554,BC019883,BC063128,CB958277,CR598820,FN813349,FN813350,BC094859,BU929933,DA814760,DB124897,FN813351,NM_001197317,NM_001197318,NM_001197319,NR_036693 NP_001004419,NP_037401,AAN59996,EAW96114,EAW96118,EAW96119,AAF22159,AAG00514,AAG00515,AAG00516,AAH19883,Q9UHP7,Q504R3,CBL81070,CBL81071,AAH94859,CBL81072,NP_001184246,NP_001184247,NP_001184248 Hs.268326 CLAX|LLT1|OCIL C-type lectin domain family 2 member D|C-type lectin related f|C-type lectin superfamily 2, member D|LLT-1|OTTHUMP00000205781|c-type lectin superfamily 2, member d|lectin-like NK cell receptor|lectin-like transcript 1|osteoclast inhibitory lectin protein-coding 1351189 CLEC2L C-type lectin domain family 2, member L 14702039,11181995,17353931 154790 NM_001080511,AC005531,CH236950,CH471070,AK057548 NP_001073980,EAW83922,EAW83923,P0C7M8 Hs.57806 FLJ32986 C-type lectin domain family 2 member L protein-coding 1604398 CLEC3A C-type lectin domain family 3, member A 10524194,19173304,16344560,15489334,12975309,12477932,19844255 10143 NM_005752,AC079414,AF077345,CH471114,AI927004,AK313316,AY358376,BC104414,BC104415,DA998903 NP_005743,AAD12542,EAW95592,EAW95593,BAG36121,AAQ88742,AAI04415,AAI04416,O75596,Q3SX92 Hs.177936 CLECSF1|MGC129558|MGC129559 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)|C-type lectin domain family 3 member A|C-type lectin superfamily member 1|C-type lectin, superfamily member 1|cartilage-derived C-type lectin protein-coding 1602501 CLEC3B C-type lectin domain family 3, member B 1625347 17353931,7798325,14718574,16453284,15848710,15489334,12694198,12477932,11962752,10964919,10727405,10614823,9757090,9256258,9154122,8418471,3427041,3009181,2533389,2298916,1511740,1354271 1625347 7123 NM_003278,AC104165,CH471055,X70910,X70911,X70912,X98121,AK312093,BC011024,BI837909,CR541981,CR542009,CR595857,CR601488,CR749292,X64559 NP_003269,EAW64735,EAW64736,CAA50265,CAA66803,BAG35029,AAH11024,CAG46778,CAG46806,CAH18147,CAA45860,P05452,Q68DS3 Hs.476092 DKFZp686H17246|TN|TNA plasminogen kringle 4-binding protein|tetranectin|tetranectin (plasminogen binding protein)|tetranectin (plasminogen-binding protein) protein-coding 1352867 CLEC4A C-type lectin domain family 4, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq] 10438934,18029348,19028959,18541725,18480830,18258799,17665455,16360206,15489334,14550269,12945048,12477932,11994513,11178971,10508765,20530286 50856 NM_194450,NM_194447,NM_194448,AC006511,AC092111,CH471116,AA418441,AF067800,AF109146,AF200738,AF328684,AI400631,AJ133532,BC074822,BC074874,NM_016184,BC117439,BC117441 NP_057268,NP_919432,NP_919429,NP_919430,EAW88632,EAW88633,EAW88634,EAW88635,AAF75560,AAF14348,AAG35593,AAL56016,CAB54001,AAH74822,AAH74874,AAI17440,AAI17442,Q9UMR7,ADR83505 Hs.504657 CLECSF6|DCIR|DDB27|HDCGC13P|LLIR C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6|C-type lectin DDB27|C-type lectin domain family 4 member A|C-type lectin superfamily member 6|dendritic cell immunoreceptor|lectin-like immunoreceptor protein-coding 1349387 CLEC4C C-type lectin domain family 4, member C This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 20588308,20888334,18684674,18022864,17850179,15489334,12975309,12477932,11748283,11536172,11086035,11031109,12386167,19577819,19829303 170482 NM_203503,NM_130441,AC006517,CH471116,AF293615,AF325459,AF325460,AK122596,AY358223,BC074967,BC074968,BC102015,BC102016,BC102017,BC114338 NP_987099,NP_569708,EAW88654,EAW88655,EAW88656,AAL37036,AAL37358,BAG53616,AAQ88590,AAH74967,AAH74968,AAI02016,AAI02017,AAI02018,AAI14339,Q8WTT0,AAL37359 Hs.351812 BDCA2|CD303|CLECSF11|CLECSF7|DLEC|HECL|MGC125789|MGC125791|MGC125792|MGC125793|PRO34150 BDCA-2|C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 11|C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7|C-type lectin domain family 4 member C|C-type lectin domain family 4, member C, isoform 1|C-type lectin superfamily member 7|blood dendritic cell antigen 2 protein|dendritic cell lectin b|dendritic lectin protein-coding 1347298 CLEC4D C-type lectin domain family 4, member D This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq] 18029348,15368084,14971047,12945048,12477932,10508765 338339 NM_080387,AC092746,CH471116,AF411850,AK314071,AY115592,AY297446,AY486482,AY486483,BI909298,BC032313 NP_525126,EAW88619,AAL37713,AAM75389,AAQ63173,AAS59161,AAS59162,AAH32313,Q8WXI8,ABM85355 Hs.351811 CLEC-6|CLEC6|CLECSF8|MCL|MGC40078|MPCL C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8|C-type lectin domain family 4 member D|C-type lectin receptor|C-type lectin superfamily member 8|C-type lectin-like receptor 6|macrophage C-type lectin protein-coding 1344050 CLEC4E C-type lectin domain family 4, member E This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq] 17207965,10528209,18509109,16344560,15489334,12975309,12945048,12477932,10508765,19120481,20237496 26253 NM_014358,AC092746,CH471116,AB024718,AK312671,AY358499,BC000715,DA669951,DA678013 ADQ33211,Q9ULY5,NP_055173,EAW88617,EAW88618,BAA83755,BAG35553,AAQ88863,AAH00715 Hs.236516 CLECSF9|MINCLE C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9|C-type lectin domain family 4 member E|C-type lectin superfamily member 9|macrophage-inducible C-type lectin protein-coding 1354444 CLEC4F C-type lectin domain family 4, member F 69939,633037 16713569,14702039,12477932,8889548,1846367 69939,633037 165530 NM_173535,AC007395,CH471053,AK096429,AK301242,BC139723,BC144652 NP_775806,EAW99794,BAC04786,BAH13440,AAI39724,AAI44653,Q8N1N0 Hs.681239 CLECSF13|FLJ39110|KCLR C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13|C-type lectin 13|C-type lectin domain family 4 member F|C-type lectin superfamily member 13|OTTHUMP00000203412 protein-coding 1354383 CLEC4G C-type lectin domain family 4, member G 19632227,20127679,20237496,18624398,19111020,18697825,18083206,17339424,15489334,14711836,12975309,12477932 339390 NM_198492,AC008763,CH471139,AY203939,AY358431,AY423706,BC039679,BC093691,BC093693,BC143309 NP_940894,EAW69003,AAP34462,AAQ88797,AAR84185,AAH93691,AAH93693,AAI43310,Q08G24,Q6UXB4,Q6XYD1 Hs.220649 LP2698|LSECtin|UNQ431 C-type lectin domain family 4 member G|C-type lectin superfamily 4, member G|DTTR431|liver and lymph node sinusoidal endothelial cell C-type lectin protein-coding 1625847 CLEC4GP1 C-type lectin domain family 4, member G pseudogene 1 14702039,12477932 440508 NR_002931,AC008812,AK090689,AK090734,AK123140,BC047593 Hs.568222 FLJ33370|FLJ33415|FLJ41145|MGC48640 pseudo 1603701 CLEC4M C-type lectin domain family 4, member M This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants. 11257134,11337487,10072769,19249311,19141225,19046307,18841568,18775666,18697825,18458800,18375037,18171520,18083206,17876530,17715238,17530994,17509452,17037540,17006978,16894195,16883544,16453266,16434485,16386217,16369534,16364081,16344560,16061998,15812562,15784257,15509576,15496474,15489334,15371595,15195147,15184372,15111305,14702039,12502850,12477932,12403912,12223058,12152166,12050398,11739956,11384997,11226297,10975799,16365436,15795245,15215692,1736938,1518869,12621057,12634366,21029358,20799037,16246332,18708672,19617348,19809496,19833723,19835887,20003397,20108443,20152818,20217198,20331378 10332 NR_026707,NR_026708,NM_001144908,NM_001144909,NM_001144910,NR_026709,NM_001144906,NM_001144907,NM_001144905,NM_001144911,NM_001144904,AC008812,AF209481,CH471139,AA431250,AB015629,AF245219,AF290887,AK023750,AK292278,AK298084,AK304499,NM_014257,AK314704,AY042234,AY042235,AY042236,AY042237,AY042238,AY042239,AY042240,AY343913,BC038851,BC110614,BQ008265,BX102225,DB030283,DB048428 NP_055072,NP_001138380,NP_001138381,NP_001138382,NP_001138378,NP_001138379,NP_001138377,NP_001138383,NP_001138376,AAG13815,EAW68983,EAW68984,EAW68985,EAW68986,EAW68987,EAW68988,EAW68989,EAW68990,BAA76496,AAG13848,AAK20998,BAB14667,BAF84967,BAG60371,BAG65307,AAK91859,AAK91860,AAK91861,AAK91862,AAK91863,AAK91864,AAK91865,AAR04559,AAH38851,AAI10615,Q2TB20,Q9H2X3,ABM84705 Hs.421437 CD209L|CD299|DC-SIGN2|DC-SIGNR|DCSIGNR|HP10347|L-SIGN|LSIGN|MGC129964|MGC47866 C-type lectin domain family 4 member M|CD209 antigen-like protein 1|CD299 antigen|DC-SIGN-related protein|dendritic cell-specific ICAM-3-grabbing non-integrin 2|dendritic cell-specific ICAM-3-grabbing nonintegrin 2|liver/lymph node-specific ICAM-3 grabbing non-integrin|liver/lymph node-specific ICAM-3-grabbing non-integrin|mannose binding C-type lectin DC-SIGNR protein-coding 1343085 CLEC5A C-type lectin domain family 5, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq] 10449773,18496526,15489334,12945048,12853948,12690205,12477932,10508765,20057064,20237496 23601 NM_013252,AC073647,CH236950,CH471070,AF139768,AI418484,AJ271684,AK292766,AK295200,AK307095,AK313703,BC093714,BC112099,BC113098,BC113099,BC143392,BQ005467,BQ446122 NP_037384,AAS07444,EAL24012,EAW83991,EAW83992,AAF02491,CAB71334,BAF85455,BAG58199,BAG36449,AAH93714,AAI12100,AAI13099,AAI13100,Q14DL9,Q9NY25 Hs.446235 CLECSF5|MDL-1|MDL1|MGC138304 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5|C-type lectin domain family 5 member A|C-type lectin superfamily member 5|OTTHUMP00000211630|myeloid DAP12-associating lectin 1|myeloid DAP12-associating lectin-1 protein-coding 1351045 CLEC6A C-type lectin domain family 6, member A 15810886,15368084,15175046,12477932 93978 NM_001007033,AC092746,AC092865,CH471116,AK308011,AY321309,AY365135,BC132933,BC132935 NP_001007034,EAW88620,AAQ83725,AAR13071,AAI32934,AAI32936,Q6EIG7 Hs.591147 CLEC4N|CLECSF10|dectin-2 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10|C-type lectin domain family 6 member A|C-type lectin superfamily member 10|DC-associated C-type lectin 2|DC-associated C-type lectin-2|dectin 2|dectin-2|dendritic cell-associated C-type lectin 2 protein-coding 1350458 CLEC7A C-type lectin domain family 7, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq] 20299682,20577092,20807886,20360401,19223162,19358895,19614557,19633936,19773555,19811837,19864674,19888805,19915667,20237496,20421639,20452827,11567029,19134118,19122653,18549457,17698636,17182550,16870151,16344560,16341139,15956283,15944324,15816015,15728245,15489334,14707091,12975309,12945048,12689921,12477932,12423684,11745369,11544516,11491532,11470510,10779524,10508765,7566098,15130945,20158887,17207965,20631729 64581 NG_016291,AK294111,AK295108,AK297028,AK298679,AK298724,AK313247,AY009090,AY026769,AY026770,AY026771,AY358685,AY359002,BC013385,BC071746,BC093829,BC093831,CR749536,DA193873,NM_197949,NM_022570,NM_197948,NM_197947,NM_197954,AC024224,CH471094,CQ779237,CQ779239,AA361063,AF313468,AF313469,AF400595,AF400596,AF400597,AF400598,AF400599,AF400600,AF400601,AF400602,AJ312372,AJ312373,NM_197950 CAC43847,BAH11674,BAH11976,BAH12480,BAH12845,BAH12855,BAG36058,AAG33923,AAK20114,AAK20115,AAK20116,AAQ89048,AAQ89361,AAH13385,AAH71746,AAH93829,AAH93831,CAH18342,Q68D78,Q6UWR2,Q96D32,Q96PA4,Q9BXN2,NP_922941,NP_922940,NP_072092,NP_922939,NP_922938,NP_922945,EAW96144,EAW96145,EAW96146,EAW96147,EAW96148,EAW96149,EAW96150,EAW96151,EAW96152,EAW96153,EAW96154,EAW96155,CAF63003,CAF63006,AAK37473,AAK37474,AAL11711,AAL11712,AAL11713,AAL11714,AAL11715,AAL11716,AAL11717,AAL11718,CAC43846,ADQ32026 Hs.143929 BGR|CANDF4|CLECSF12|DECTIN1 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12|C-type lectin domain family 7 member A|C-type lectin superfamily member 12|DC-associated C-type lectin 1|beta-glucan receptor|dectin-1|dendritic cell-associated C-type lectin 1|dendritic cell-associated C-type lectin-1|lectin-like receptor 1 protein-coding 1343177 CLEC9A C-type lectin domain family 9, member A CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM] 19219027,18669894,18497879,18408006,12975309,20479117 283420 NM_207345,AC024224,AK307335,AY358265,EU339276 NP_997228,AAQ88632,ABZ04557,Q6UXN8 Hs.531189 DNGR1|UNQ9341 C-type lectin domain family 9 member A|HEEE9341 protein-coding 1602831 CLECL1 C-type lectin-like 1 DCAL1 is a type II transmembrane, C-type lectin-like protein expressed on dendritic cells (DCs) and B cells. It interacts with subsets of T cells as a costimulatory molecule that enhances interleukin-4 (IL4; MIM 147780) production.[supplied by OMIM] 19027044,12477932,12421943,20237496 160365 NM_172004,AC007068,CH471094,AF518873,AW237307,BC093857,BC093859 EAW96120,EAW96121,AAN64752,AAH93857,AAH93859,Q8IZS7,NP_742001 Hs.560087 DCAL1 C-type lectin-like domain family 1|DC-associated lectin-1|DCAL-1|dendritic cell associated lectin 1|dendritic cell-associated lectin 1|dendritic cell-associated lectin-1|type II transmembrane protein DCAL1 protein-coding 1343269 CLGN calmegin Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq] 1580863 20379614,9177349,17903293,17081983,16264275,15489334,14702039,12477932,11784061,10495883,9434179,8126001 1047 NM_004362,NM_001130675,AC093671,CH471056,AK093096,AK290819,AK299243,AK302149,AL045602,BC028357,D86322,DC396076 NP_004353,NP_001124147,EAX05099,EAX05100,EAX05101,BAG52652,BAF83508,BAG61274,BAG63520,AAH28357,BAA22590,O14967,ABM83026,ABM86221 Hs.86368 calmegin protein-coding 1353337 CLIC1 chloride intracellular channel 1 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq] 1580863 19143814,19299076,19659809,19703605,19845400,19851445,20507120,14667819,9139710,16130169,10793131,19143821,18850721,18710659,18028448,17347778,17326840,16289162,16236267,15827065,15489334,15190104,14656967,14613939,14574404,12681486,12477932,12163479,11978800,11551966,11195932,10834939,10384126,10191309,9841507,9373149,9339381,8125298,7938007,7711732,1345164,19913121,20587610,20628086,20461716 1192 AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,NM_001288,CR759787,CR936239,AF034607,AF109197,AK129773,AK223379,AK314014,BC064527,BC095469,BM562536,CR542071,CR590898,CR593811,CR594574,CR596449,CR596711,CR602015,CR602891,CR606521,CR607137,CR613236,CR613259,CR619902,CR622923,CR623346,CR624716,U93205,X87689 NP_001279,AAD18073,CAB46078,CAI18417,CAI17826,CAM45776,BAB63376,CAM26101,EAX03503,EAX03504,EAX03505,CAQ07026,CAQ10114,CAQ08899,AAD20437,AAD26137,BAD97099,BAG36725,AAH64527,AAH95469,CAG46868,AAC25675,CAA61020,O00299,Q53FB0,Q5SRT3 Hs.414565 G6|NCC27 OTTHUMP00000029133|OTTHUMP00000029137|OTTHUMP00000174486|RNCC protein|chloride channel ABP|chloride intracellular channel protein 1|hRNCC|nuclear chloride ion channel 27|nuclear chloride ion channel protein|p64CLCP|regulatory nuclear chloride ion channel protein protein-coding 1315278 CLIC2 chloride intracellular channel 2 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 2 is a member of the p64 family; the protein is detected in fetal liver and adult skeletal muscle tissue. This gene maps to the candidate region on chromosome X for incontinentia pigmenti. [provided by RefSeq] 1580863 16130169,11256614,18186468,18007051,17945253,16381901,15772651,15489334,15147738,12681486,12601004,12477932,11076863,9339381,8908511,1311421,15489336 1193 NM_001289,NG_005114,NG_012497,AJ000217,AJ000218,AJ000219,AL356738,CH471172,AK292785,AW961768,AY191592,BC005367,BC022305,BQ004708,BX482109,CD691162,Y12696 NP_001280,CAA03948,CAI41464,EAW72624,EAW72625,BAF85474,AAO38670,AAH22305,CAA73228,O15247,Q86YM0,CAL37933,ABM82940,ABM86130,CAO77905 Hs.655445 CLIC2b|XAP121 OTTHUMP00000196471|chloride intracellular channel protein 2 protein-coding 1316330 CLIC3 chloride intracellular channel 3 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq] 1580863 9880541,17027078,15489334,12477932,11563969,9139710,17207965,18029348,20146363 9022 NM_004669,AL807752,CH471090,AF102166,AI741256,BC007012,BF439361,BM043659,CR542066,CR619171 ADQ32467,NP_004660,CAI12762,CAI12764,EAW88329,EAW88330,AAD16450,AAH07012,CAG46863,O95833,Q5SQ17,Q6FGP1 Hs.64746 OTTHUMP00000022632|chloride intracellular channel protein 3 protein-coding 737114 CLIC4 chloride intracellular channel 4 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq] 1580863 20374090,10793131,12163372,11256614,18028448,17636002,17200346,16842122,16381901,16344560,16316993,16239224,15489336,15489334,14702039,14569596,12477932,11563969,11230166,11076863,10191309,10070163,9880541,9295337,9139710,8175911,18029348,19247789,19639201,19713532,19776349,20379614,10026142,20877624 25932 NM_013943,AL445648,AL662924,CH471134,AF097330,AF109196,AK001624,AK095959,AK301466,AK307142,AK315051,AL080061,AL117424,AL162008,BC012444,BQ574968,BQ929781,CR533501,CR592023,CR593119,DA904028,DB091421,Z24740,Z24749 NP_039234,CAH73088,CAH70045,EAW95142,EAW95143,EAW95144,EAW95145,EAW95146,AAD38446,AAD26136,BAA91794,BAG53175,BAG62986,BAG37528,CAB55916,AAH12444,CAG38532,Q9NVF8,Q9Y696,CAL38520 Hs.440544,Hs.595507 CLIC4L|DKFZp566G223|FLJ38640|H1|MTCLIC|huH1|p64H1 chloride intracellular channel 4 like|chloride intracellular channel protein 4|intracellular chloride ion channel protein p64H1 protein-coding 1351761 CLIC5 chloride intracellular channel 5 Chloride intracellular channels are involved in chloride ion transport within various subcellular compartments. CLIC5 specifically associates with the cytoskeleton of placenta microvilli.[supplied by OMIM] 1580863 10793131,18676988,18028448,17492382,16303743,15489334,15184393,14702039,14574404,12477932,12200217,12163479,9373149,8889548,8125298,20335315,20379614 53405 NM_016929,NM_001114086,AL050336,AL357057,AL591211,CH471081,CQ783238,AF086005,AF176920,AF216941,AJ420547,AK025350,AK075144,AK075163,AK097048,AK222544,AK223130,AK314416,AL049313,AY032602,BC020923,BC035968,BC039380,BQ184144,DQ679794 Q49AE1,Q53G01,Q7Z2R8,Q8N675,Q8NBY3,Q9NZA1,ABM83569,ABM86807,ABG46342,NP_058625,NP_001107558,CAI21030,CAI21031,EAX04285,EAX04286,EAX04287,CAF86432,AAQ13664,AAF66928,BAC11432,BAC11444,BAG53413,BAD96264,BAD96850,BAG37037,AAK52083,AAH20923,AAH35968,AAH39380 Hs.485489 CLIC5B|FLJ90663|MST130|MSTP130|dJ447E21.4 chloride intracellular channel 5A|chloride intracellular channel protein 5 protein-coding 735803 CLIC6 chloride intracellular channel 6 This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq] 1580863 15489334,14702039,14597386,12747765,12477932,12226712,10830953,8889549,14499480,19834535 54102 NM_053277,AP000330,CH471079,AF308293,AF426169,AF448438,AF448439,AK092733,AK289663,BC040196 NP_444507,EAX09775,EAX09776,AAL24813,AAN76729,AAN76730,BAC03959,BAF82352,AAH40196,Q96NY7 Hs.473695 CLIC1L chloride channel form A|chloride intracellular channel protein 6|parchorin protein-coding 1602726 CLINT1 clathrin interactor 1 15342556,11031247,11252894,17116749,19615732,20379614,20398908,20562859,14675752,10942595,18929466,18696005,18033301,17081983,16402136,15793701,15489334,15371541,15324660,15068792,14702039,12538641,12477932,12429846,12213833,8724849,12589059 9685 BP246338,NM_001195555,NM_001195556,NG_027820,NM_014666,AC011394,AC026407,CH471062,AF434813,AK092765,AK128594,AK300257,AL529948,AL833548,BC004467,BC013091,BC030264,BI461076,BK000414,D79993 NP_001182484,NP_001182485,NP_055481,EAW61585,EAW61586,EAW61587,EAW61588,AAL30768,BAC03971,BAH13244,AAH04467,AAH13091,DAA00062,BAA11488,Q14677 Hs.644000 CLINT|ENTH|EPN4|EPNR|EPSINR|FLJ46753|KIAA0171 clathrin interacting protein localized in the trans-Golgi region|clathrin interactor 1|clathrin-interacting protein localized in the trans-Golgi region|enthoprotin|epsin 4|epsin-4|epsin-related protein|epsinR protein-coding 69221 CLIP1 CAP-GLY domain containing linker protein 1 1580863 20664522,15928712,10052454,11940666,1356075,1600942,19126680,19020519,19004523,18622020,18237546,17889670,17828277,17563362,17081983,16964243,16772339,16574066,16565220,16362039,16120651,16083285,15862147,15345747,15302935,14702039,12833147,12789661,12477932,12433698,12231510,12110184,11966772,11290329,9784600,8222754,7983157,15572129,16455083,19687009,15262990 6249 NM_198240,NM_002956,AC048338,AC079406,AC093016,AC127002,CH471054,AB209115,AF045653,AK123769,AK126990,AY563000,BC039081,BC047895,BC062543,BC114213,BC117209,BC126305,BM998166,M97501,X64838 NP_937883,NP_002947,EAW98320,EAW98321,EAW98322,EAW98323,BAD92352,AAC03550,BAG54417,AAS75590,AAH47895,AAH62543,AAI14214,AAI17210,AAI26306,AAA35693,CAA46050,O43667,P30622,Q59GJ4,Q6P5Z9,Q6Q318,Q86WU4 Hs.524809 CLIP|CLIP-170|CLIP170|CYLN1|MGC131604|RSN CAP-Gly domain-containing linker protein 1|Reed-Steinberg cell-expressed intermediate filament-associated protein|cytoplasmic linker 1|cytoplasmic linker protein 1|cytoplasmic linker protein 170 alpha-2|reed-Sternberg intermediate filament-associated protein|restin|restin (Reed-Steinberg cell-expressed intermediate filament-associated protein) protein-coding 734383 CLIP2 CAP-GLY domain containing linker protein 2 The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 734863 20379614,9799601,17081983,15790807,15122254,14760703,12853948,12477932,12195424,12168954,11290329,9847074,9179496,8812460,20936779 734863 7461 BC150332,CR600159,BC006259,NM_003388,NM_032421,NG_011830,AC005015,AF041055,AF041056,AF041057,AF041058,AF041059,CH471200,AB006629,AI204077,AL157546,AY295764,AY927468,AY927469 AAI50333,Q7Z5B7,Q9UDT6,AAI40370,AAI48703,NP_003379,NP_115797,AAF03524,AAB96784,EAW69603,EAW69604,BAA22960,AAP91873 Hs.647018 CLIP|CLIP-115|CYLN2|KIAA0291|MGC11333|WBSCR3|WBSCR4|WSCR3|WSCR4 CAP-Gly domain-containing linker protein 2|OTTHUMP00000160724|Williams-Beuren syndrome chromosome region 3|Williams-Beuren syndrome chromosome region 4|cytoplasmic linker 2|cytoplasmic linker protein 115|cytoplasmic linker protein 2|williams-Beuren syndrome chromosomal region 3 protein|williams-Beuren syndrome chromosomal region 4 protein protein-coding 1603664 CLIP3 CAP-GLY domain containing linker protein 3 16344560,15489334,15262990,14702039,12477932,11854307,19139280,20052288 25999 DA398172,DA406432,HI574094,NM_001199570,NM_015526,AC002116,AJ427922,AK056445,AK090732,AK092354,AK094738,AK289509,AK294748,AL117468,BC014486,BC128090,BC013116 CBX47536,NP_001186499,NP_056341,CAD20873,BAG52221,BAG52536,BAG52921,BAF82198,BAG57888,CAB55943,AAH13116,AAH14486,Q96DZ5 Hs.466539 CLIPR-59|CLIPR59|DKFZp586N1922|FLJ33413|RSNL1 CAP-Gly domain-containing linker protein 3|CLIP-170-related 59 kDa protein|CLIP-170-related protein|cytoplasmic linker protein 170-related 59 kDa protein|restin-like 1 protein-coding 1350068 CLIP4 CAP-GLY domain containing linker protein family, member 4 15489334,14702039,12477932,9373149 79745 AK302325,AK304384,BC013862,BC015310,BC107760,BC126167,BC136331,BQ025066,AB209042,AC093593,AC105398,CH471053,AF433661,AI433385,AK023505,AK024722,AK057267,AK225074,AK291595,AL601363,AL834443,NM_024692 BAH13674,BAH14172,CAD39103,AAH15310,AAI26168,AAI36332,Q4ZFY2,Q53QT5,Q59GR7,Q8N3C7,BAD92279,NP_078968,AAX88898,AAY24165,EAX00509,EAX00510,EAX00511,EAX00512,EAX00513,EAX00514,EAX00515,AAP97312,BAB14974,BAB71403,BAF84284,ADR83093 Hs.122927 FLJ21069|FLJ32705|RSNL2 CAP-Gly domain-containing linker protein 4|OTTHUMP00000201012|OTTHUMP00000201013|OTTHUMP00000201016|restin-like 2|restin-like protein 2 protein-coding 1322944 CLK1 CDC-like kinase 1 This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 1825055,1704889,19168442,18978788,18814951,11579209,15324660,15383276,16169070,17081983,16344560,16223727,15010457,14759258,12773558,12705895,12565863,12549978,12477932,11461155,11418604,10954422,10480872,9856501,8798720,8617202,7990150,12890497,8973360 1195 NM_004071,NM_001162407,NR_027855,NR_027856,AC005037,CH471063,AI251890,AK025306,AK289365,AK294295,AK307301,AK316127,BC028149,BC028573,BC031549,BE241788,CR591789,CR593610,CR609176,CR612115,CR617472,DA225472,DB164846,L29219,L29222,M59287,FB775550 NP_004062,NP_001155879,AAY14722,EAW70215,EAW70216,EAW70217,EAW70218,EAW70219,BAF82054,BAG57578,BAH14498,AAH28149,AAH31549,AAA61480,AAB59459,P49759,Q9NRL6,CAV30732 Hs.433732 CLK|CLK/STY|STY CDC28/CDC2-like kinase|OTTHUMP00000206164|OTTHUMP00000206165|dual specificity protein kinase CLK1|protein tyrosine kinase STY protein-coding 1343354 CLK2 CDC-like kinase 2 This gene encodes a member of the CLK family of dual specificity protein kinases. CLK family members have been shown to interact with, and phosphorylate, serine- and arginine-rich (SR) proteins of the spliceosomal complex, which is a part of the regulatory mechanism that enables the SR proteins to control RNA splicing. Note that this gene is distinct from TELO2 gene (GeneID:9894), which shares CLK2 and hCLK2 symbol aliases in common with this gene, but encodes a protein that is involved in telomere length regulation. [provided by RefSeq] 1580863 7990150,19168442,19097996,18978788,16344560,16189514,15489334,15324660,14759258,14702039,12477932,11579209,11285245,10480872,9856501,9852100,9758629,9637771,9331372,8910305,12705895,20682768 1196 NM_003993,AF023268,AL713999,CH471121,AK091036,AK291995,AK303696,AU136826,BC006274,BC014067,BC053603,BI562223,CR623321,L29216,L29218 NP_003984,AAC51817,CAI95097,CAI95098,CAI95099,EAW53087,EAW53088,EAW53089,BAG52265,BAF84684,BAH14022,AAH06274,AAH14067,AAH53603,AAA61481,AAA61482,P49760,Q9BRG8 Hs.73986 MGC61500|hCLK2 CLK kinase|dual specificity protein kinase CLK2 protein-coding 1345997 CLK2P CDC-like kinase 2, pseudogene 12690205,12477932,9856501,7990150 1197 NR_002711,AC006026,CH236948,BC022025 EAL24254,EAL24255 Hs.632635 pseudo 733625 CLK3 CDC-like kinase 3 This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq] 1580863 8889548,8125298,7990150,19168442,17192257,17081983,16189514,15489334,15324660,14759258,14702039,12477932,9856501,9637771,9373149,19426592 1198 AK291983,AK293769,AK301689,AL833165,BC002555,BC006103,BC009857,BC019881,BI459843,BM678884,BQ183959,BT006993,CR933693,L29217,L29220,AB209535,NM_001130028,AC100835,CH471136,AK026511,AK091692,AK096115,AK097982,AK122860,AK225680,NM_003992 BAF84672,BAG57185,BAG63161,AAH02555,AAH06103,AAH19881,AAP35639,AAA61484,AAA61483,P49761,Q59FC5,BAD92772,NP_003983,NP_001123500,EAW99320,EAW99321,EAW99322,EAW99323,EAW99324,EAW99325,BAG52400,BAG53214,BAG53559,BAG53765 Hs.584748 FLJ22858|PHCLK3|PHCLK3/152 dual specificity protein kinase CLK3 protein-coding 1321078 CLK4 CDC-like kinase 4 The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq] 1580863 19168442,17081983,12824502,12705895,12477932,12169693,11170754,16712791 57396 NM_020666,AC022096,CH471165,AF294429,AK304614,AK308674,AK308879,AK310427,AK311485,BC015942,BC034633,BC046211,BC063116,BC065732,BC136261,BC143538,BC143547,BC151233,BX647323,CB127989,CR749504 NP_065717,EAW53831,EAW53832,AAG10074,BAH14226,AAH34633,AAH65732,AAI36262,AAI43548,CAH18325,Q4G0Z5,Q68D95,Q6P090,Q9HAZ1 Hs.406557 DKFZp686A20267 dual specificity protein kinase CLK4|protein serine threonine kinase Clk4 protein-coding 1602256 CLLU1 chronic lymphocytic leukemia up-regulated 1 19212335,17786715,17284524,16529606,16339396,18457263,19726446 574028 NM_001025233,NR_027932,NR_027933,AC063949,AJ845162,AJ845163,AJ845164,AJ845165,AJ845166,AJ845167,GM041586 NP_001020404,CAH61080,CAH61081,Q5K131,AAI40253,AAI46526,CAS97697 Hs.339918 chronic lymphocytic leukemia up-regulated protein 1 protein-coding 1604877 CLLU1OS chronic lymphocytic leukemia up-regulated 1 opposite strand 16339396 574016 NM_001025232,AC063949,AJ845168 NP_001020403,CAH61082,Q5K130,AAI48494,AAI53087 Hs.551199 chronic lymphocytic leukemia up-regulated 1 overlapping strand|putative chronic lymphocytic leukemia up-regulated protein 1 opposite strand transcript protein protein-coding 1350291 CLM cutis laxa with marfanoid phenotype 2704655 1199 1315532 CLMN calmin (calponin-like, transmembrane) 1580863 20339536,9455484,14702039,12508121,12477932,11386753,10574461,16712791,20195266 79789 AB007969,AK125038,CB155696,NM_024734,AL117187,AL356017,CH471061,AB033014,AB047979,AK022279,AK023828,AK025226,AK314315,AL117526,BC014554,BC025251,BC032699,BC040108,BC049365,BC068482 NP_079010,EAW81597,EAW81598,BAA86502,BAB59010,BAB13999,BAG51227,BAB15087,BAG36964,CAB55978,AAH14554,AAH25251,AAH32699,AAH68482,Q6NUQ2,Q6PJJ6,Q96JQ2 Hs.301478 FLJ12383|FLJ43048|KIAA0500|KIAA1188 calmin|calponin like transmembrane domain protein|calponin-like transmembrane domain protein protein-coding 1345435 CLN3 ceroid-lipofuscinosis, neuronal 3 This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863,1598669 19299465,19489875,19915574,20015955,20187884,20562859,15471887,10191111,10191116,12706816,10191112,12134079,10332042,11590129,19028667,18817525,18678598,18552385,18317235,18265413,17947292,17896996,17868323,17482562,17286803,17081983,16714284,16515873,16344560,16291725,16087292,15657902,15598649,15489334,15469932,15302935,15240430,15032383,14759258,14702039,14699076,14660799,14622109,12477932,12440525,12189165,12125809,11699874,11375929,10509355,10493829,10191115,9490299,9450775,10740217,9384607,9311735,8980123,10924275,16251196,15240864,11722572,9949212,9119403,9004140,7887420,7553855,2271648,21102463 1598669 1201 NM_001042432,NM_000086,NG_008654,AC002425,AC002544,AC138894,CH471279,CQ834698,X99832,AF015593,AF015594,AF015595,AF015596,AF015597,AF015598,AF015599,AF015600,AF015601,AF015602,AF077956,AF077957,AF077958,AF077959,AF077960,AF077961,AF077962,AF077963,AF077964,AF077965,AF077966,AF077967,AF077968,AF077969,AF077970,AF077971,AF077972,AF077973,AF078168,AF078169,AI138575,AK090709,AK294070,AK294250,AK295500,AK297690,AK302027,AK302138,AK313002,AU105965,BC002394,BC004433,BC111068,BK001540,CR591558,CR596104,CR596659,CR597053,CR600759,CR601899,CR605499,CR606893,CR607307,CR611125,CR611571,CR613621,CR613713,CR613839,CR613843,CR614077,CR615669,CR616337,CR619077,CR619228,CR620473,DA552461,DA869025,DB101039,EF587244,EF587245,U32680 NP_001035897,NP_000077,AAC05337,AAC27430,EAW52281,EAW52282,EAW52283,EAW52284,EAW52285,EAW52286,EAW52287,EAW52288,EAW52289,EAW52290,EAW52291,EAW52292,EAW52293,EAW52294,EAW52295,EAW52296,EAW52297,EAW52298,EAW52299,CAH05564,CAA68148,AAD01555,AAD01556,AAD01557,AAD01558,AAD01559,AAD01560,AAD01561,AAD01562,AAD01563,AAD01564,AAD51478,AAD51479,AAD51480,AAD51481,AAD51482,AAD51483,AAD51484,AAD51485,AAD51486,AAD51487,AAD51488,AAD51489,AAD51490,AAD51491,AAD51492,AAD51493,AAD51494,AAD51495,AAD48542,AAD48543,BAG57546,BAG58420,BAG60048,BAG63425,BAG63512,BAG35838,AAH02394,AAH04433,AAI11069,DAA02067,ABW04812,ABW04813,AAB51075,O95085,O95086,O95087,O95088,O95089,O95090,O95091,O95092,O95093,Q13286,Q2TA70,Q549S9,Q5XFT9,Q9UBD8,Q9UBH5,Q9UP05,Q9UP08,Q9UP10,BAG57414 Hs.534667 BATTENIN|BTS|JNCL|MGC102840 batten disease protein|battenin protein-coding 1347877 CLN4 ceroid-lipofuscinosis, neuronal 4 (Kufs disease) 1202 1315879 CLN5 ceroid-lipofuscinosis, neuronal 5 This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. 1580863 12134079,10992246,11722572,10740217,9662406,19201763,19174516,17607606,16814585,15728307,14997939,12125809,11971870,10477428,8661106,7942847,193610,17353931,20052765,19309691,19941651,20157158 1203 NM_006493,NG_009064,AC001226,CH471093,AF068227,AK075109,AK304001,CR620773 O75503,AAI46275,AAI53155,AAI72583,NP_006484,EAW80561,EAW80562,AAC27614,BAG52069,BAG64918 Hs.30213 FLJ90628|NCL ceroid-lipofuscinosis neuronal protein 5 protein-coding 1320201 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq] 1358512,1580863 15010453,16857350,11722572,10740217,15265688,11727201,19520283,19201763,19135028,18811591,17453415,17081983,16303743,15996215,15489334,15146197,14702039,12815591,12673792,12477932,11791207,9097964,20020536 1358512 54982 NG_008764,AC107871,CH471082,NM_017882,AK000568,AK027604,AK074753,AK124013,AK291175,AK293155,BC010849,BC013130,BM149330,CA446197,CN427564,CR457244,AK293197 NP_060352,EAW77811,EAW77812,EAW77813,EAW77814,EAW77815,EAW77816,BAA91260,BAB55226,BAC11181,BAF83864,BAG56700,AAH10849,AAH13130,CAG33525,Q8NCG1,Q9NWW5,ABM82406,ABW03399,BAG56737 Hs.584921 FLJ20561|HsT18960|nclf ceroid-lipofuscinosis neuronal protein 6 protein-coding 1343617 CLN7 ceroid-lipofuscinosis, neuronal 7, late infantile, variant 1206 1346223 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq] 1580863 12151215,16086686,10508524,10861296,19201763,17129765,16344560,15489334,15024724,12477932,10740217,8743986,11073227,14508709,14702039,19431184,19807737 2055 NM_018941,NG_008656,AC100810,CH471181,CS072298,AF123757,AF123758,AF123759,AF123760,AF123761,AK096736,AK312486,AW296697,BC007725,BC136825,BT007049,DA193710 NP_061764,EAW51477,EAW51478,EAW51479,CAI93436,AAF13115,AAF13116,AAF13117,AAF13118,AAF13119,BAC04854,AAH07725,AAI36826,AAP35698,Q9UBY8 Hs.127675 C8orf61|EPMR|FLJ39417 protein CLN8|putative uncharacterized protein C8orf61 protein-coding 1605010 CLNK cytokine-dependent hematopoietic cell linker MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM] 10744659,18987618,14702039,12477932,11463797,10562326,20379614 116449 AC005599,AC084048,CH471069,AB032369,AB110420,AK093001,BC029887,BC137553,BC137556,NM_052964 NP_443196,EAW92693,BAA96241,BAC76765,BAG52635,AAH29887,AAI37554,AAI37557,Q7Z7G1 Hs.678910 MGC35197|MIST cytokine-dependent hematopoietic cell linker|mast cell immunoreceptor signal transducer protein-coding 732210 CLNS1A chloride channel, nucleotide-sensitive, 1A This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. [provided by RefSeq] 1580863 16169070,19615732,20379614,9359436,15130578,7887970,8579598,17081983,16734741,16368544,16344560,16087681,16033995,15905169,15489334,15075326,14960305,12477932,11756452,11747828,11713266,10825435,10330151,9694734,9556550,9533029,8975725 1207 AF232224,AF232225,AF232708,AP000609,CH471076,AA757599,AF005422,AF026003,AK315259,BC119634,BC119635,BT019907,CR603737,CR604322,CR605039,CR617856,DA004269,U17899,U53454,NM_001293,X91788 NP_001284,AAF76858,AAF76859,AAF76861,EAW75032,AAB61444,AAB88806,BAG37676,AAI19635,AAI19636,AAV38710,AAC50111,AAB03316,CAA62902,P54105,Q9P1H0 Hs.430733 CLCI|CLNS1B|ICln chloride channel regulatory protein|chloride channel, nucleotide sensitive 1A|chloride conductance regulatory protein ICln|chloride ion current inducer protein|i(Cln)|methylosome subunit pICln|reticulocyte pICln|reticulocyte protein ICln protein-coding 1351774 CLNS1B chloride channel, nucleotide-sensitive, 1B 9524223,8975725 1204 NG_002905,AL031885 CLNS1B|ICln pseudo 1348034 CLOCK clock homolog (mouse) This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors. Polymorphisms within the encoded protein have been associated with circadian rhythm sleep disorders. A similar protein in mice is a circadian regulator that acts as a transcription factor and forms a heterodimer with aryl hydrocarbon receptor nuclear translocator-like to activate transcription of mouse period 1. [provided by RefSeq] 1580863 19913121,20554694,20560707,20600471,20628086,20653450,20704703,19605937,19693801,19714310,19839995,19846548,19874574,19888304,19934327,19946213,20065968,20072116,20081528,20124474,20149345,20174623,20180986,20364331,20368993,20370469,20396431,10198158,9576906,18029348,19470168,19347611,19328558,19296127,19224106,18974966,18957941,18587630,18541547,18458078,18430226,18419323,18411297,18379422,18314271,18283403,18228528,18071340,17994337,17948273,17848551,17701674,17696255,17551301,17516548,17469042,17428266,17364575,17264841,17239050,17221848,17116390,17106427,16528748,16474406,16232160,16125818,16024980,15952199,15917222,15905809,15578592,15572273,15489334,15475734,15331141,14750904,14701732,14582141,12898572,12897057,12841365,12477932,12464098,11927173,11927136,11511917,11337377,11018023,10973243,10864977,9989497,9779516,9373149,9205841,8125298,14701734,11439184,14645221,20551151,19967263,18662547,20861012,21123577,20886252,20961464,20978934,20876123 9575 EF015897,NM_004898,AB059556,AB061682,AC024243,AC069200,AC110372,AF097458,AF260318,CH471057,AB002332,AB005535,AF011568,AK223549,AK291708,BC041878,BC126157,BC126159,BX537616 ABM64208,NP_004889,BAB88852,BAB92020,AAF13733,AAF70307,EAX05468,BAA20792,BAA21774,AAB83969,BAD97269,BAF84397,AAH41878,AAI26158,AAI26160,O15516,Q3ZCT4,Q53EU0,Q8N757,Q8TAB0,Q9NYB7,ABZ92219,ADR83421 Hs.436975 KAT13D|KIAA0334|bHLHe8 OTTHUMP00000128334|OTTHUMP00000218844|circadian locomoter output cycles kaput protein|circadian locomoter output cycles protein kaput|class E basic helix-loop-helix protein 8 protein-coding 1602724 CLP1 CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) 17495927,8896421,12226669,18648070,16344560,15489334,15109492,12477932,11060040 10978 DA922553,U73524,NM_006831,NM_001142597,AP000662,CH471076,AK300232,AK313007,BC000446,FB570265,FB718183 AAH00446,AAC50780,Q92989,NP_006822,NP_001136069,EAW73770,BAG62000,BAG35843,CAR94986,CAS91776 Hs.523687 HEAB|hClp1 ATP/GTP-binding protein|homolog of yeast CFIA subunit Clp1p|polynucleotide kinase Clp1|polyribonucleotide 5'-hydroxyl-kinase Clp1|pre-mRNA cleavage complex II protein Clp1 protein-coding 731315 CLPB ClpB caseinolytic peptidase B homolog (E. coli) 2745427,18488042,15489334,15231748,14702039,12927788,12477932,11230166,7835694,19615732,19698713,20877624 81570 NM_030813,AP000593,AP002892,AP003785,CH471076,AK023214,AK302006,AK302069,AK302158,AL136909,AL834484,BC006257,BC006404,CR592139,CR615664 ABW03573,NP_110440,EAW74858,EAW74859,EAW74860,BAB14467,BAG63409,BAG63459,BAG63526,CAB66843,CAD39142,AAH06257,AAH06404,Q7Z777,Q9H078,ABW03886 Hs.523877 FLJ13152|HSP78|SKD3 caseinolytic peptidase B protein homolog|suppressor of potassium transport defect 3 protein-coding 1343928 CLPP ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq] 1580863 15489334,12477932,10525407,9512494,18029348,8543061,11923310,16115876,18378094,15522782,20877624 8192 NM_006012,AC011491,CH471139,AK311973,BC002956,BF339807,CR595775,CR626690,Z50853 NP_006003,EAW69103,BAG34912,AAH02956,CAA90705,Q16740,ABM86749,ABW03819 Hs.515092 ATP-dependent protease ClpAP, proteolytic subunit, human|ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog|clpp caseinolytic protease, atp-dependent, proteolytic subunit homolog (e. coli)|endopeptidase Clp|putative ATP-dependent Clp protease proteolytic subunit, mitochondrial protein-coding 731525 CLPS colipase, pancreatic The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. [provided by RefSeq] 2314627,2314624,2314626,1580863 20054203,8479519,6691986,2337598,2045105,1643046,1522902,18726866,17715423,16189801,15489334,15287741,12598038,12477932,11278590,11099794,10570245,9240923,10769148,15583024 2314627,2314624,2314626 1208 NM_001832,AL157823,CH471081,M95529,AY780648,BC007061,BC017897,BC025693,BC043489,BT006812,J02883 NP_001823,CAI21642,EAX03850,EAX03851,AAB05818,AAV35728,AAH07061,AAH17897,AAP35458,AAA52054,P04118 Hs.1340 colipase|pancreatic colipase preproprotein protein-coding 1352897 CLPSMCR coactosin-like, Smith Magenis syndrome chromosome region 10615134,10051563 27170 NG_001537,AC022596 CLPSMCR|COTL1P1 coactosin-like 1 (Dictyostelium) pseudogene 1 pseudo 1322154 CLPTM1 cleft lip and palate associated transmembrane protein 1 19913121,20572854,20628086,20634891,20672350,9218588,9828125,16303743,16263699,16247549,16122939,16102578,15489334,12477932,9373149,8125298,19773279,19937600,16344560,8889548 1209 NM_001294,AC011481,AF037338,CH471126,CQ834666,AF037339,AK074935,AK075262,AK223553,AK293314,AK304480,AK310826,AK316094,BC004865,BC012359,BT007262,CR591313,CR595770,CR601372,CR604972,CR611720,CR614486,CQ834668,BI916245,BM676309,BQ574654,DB033341,NM_001199468 NP_001285,AAC97420,EAW57314,EAW57315,CAH05548,AAC98151,BAG52034,BAD97273,BAG56834,BAG65291,BAH14465,AAH04865,AAH12359,AAP35926,O96005,ABM83162,ABM86362,CAH05549,NP_001186397 Hs.444441 cleft lip and palate transmembrane protein 1 protein-coding 1605932 CLPTM1L CLPTM1-like 20562859,21160077,19369581,19204726,19151717,18978790,18978787,14702039,12477932,11162647,20802237,19578363,19654303,19836008,19955392,20101243,20543847,20548021,20570912,20700438,21081471,20972438 81037 NM_030782,AC026748,AC114291,CH471102,CQ834660,AB045223,AK027306,AK057095,AK128462,AL137440,AL832953,BC016399,BC025305,BC040705,CR592270,CR593991,CR622671,CR624671 NP_110409,EAX08161,EAX08162,EAX08163,EAX08164,CAH05545,BAB20083,BAB55030,BAG54680,CAH56333,AAH16399,AAH25305,Q96KA5,ABM83073,ABM86269 Hs.444673 CRR9|DKFZp666M1010|DKFZp761M2324|FLJ14400|FLJ32533 CLPTM1-like protein|CRR9p|OTTHUMP00000220655|cisplatin resistance related protein CRR9p|cisplatin resistance-related protein 9|cleft lip and palate transmembrane protein 1-like protein protein-coding 1312578 CLPX ClpX caseinolytic peptidase X homolog (E. coli) 1580863 16115876,11923310,18063578,11003706,18313382,17353931,11230166,10347188,12477932,19615732,20877624 10845 AK292316,AK308133,AK310614,AL136922,BC130373,BC136487,BC144166,AJ006267,NM_006660,AC013553,AC068213,AJ276980,CH471082 CAA06933,BAF85005,CAB66856,AAI30374,AAI36488,O76031,Q9H072,NP_006651,CAC01291,EAW77715,EAW77716 Hs.113823 ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial|ClpX caseinolytic protease X homolog|clpx caseinolytic protease x homolog (e. coli)|energy-dependent regulator of proteolysis protein-coding 737108 CLRN1 clarin 1 This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 634439,1580863 19423712,19683999,19753315,15521980,15650299,18484607,18281613,15489334,14569126,12477932,12145752,12080385,11524702,10704288,10364543,8975700,7711740,20717163 634439 7401 NM_052995,NM_174878,NG_009168,AC020636,CH471052,AF388366,AF388368,AF482697,AF495717,BC074970,BC074971,NM_001195794,HM626132,HM626133,HM626134,HM626135,HM626136 NP_443721,NP_777367,EAW78814,EAW78815,EAW78816,AAL09581,AAL09582,AAN07148,AAM88774,AAH74970,AAH74971,P58418,NP_001182723,ADM63096,ADM63097,ADM63098,ADM63099,ADM63100 Hs.380222 USH3|USH3A OTTHUMP00000216724|Usher syndrome type-3 protein|clarin-1|usher syndrome type iii a|usher syndrome type-3 protein protein-coding 1603592 CLRN1OS clarin 1 opposite strand 14702039,11524702,20717163 116933 NR_024066,AC020636,AC108726,AF388367,AK126442 Hs.570680 UCRP pseudo 2291757 CLRN2 clarin 2 This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq] 15489334,12477932,12080385 645104 NM_001079827,AC093600,BC127863 NP_001073296,AAI27864,A0PK11 Hs.631526 Usher syndrome 3A-like|clarin-2 protein-coding 1603923 CLRN3 clarin 3 16385451,20379614,16341674,15489334,15164054,12477932,12145752,12080385,17207965 119467 NM_152311,AL158166,CH471066,BC029478,BM830163,BX640823 NP_689524,CAI14770,EAW49191,EAW49192,AAH29478,CAE45899,Q8NCR9,ADQ32266 Hs.242014 DKFZp686F11218|MGC32871|TMEM12|USH3AL1 clarin-3|transmembrane protein 12|usher syndrome type-3A-like protein 1 protein-coding 1351955 CLS Coffin-Lowry syndrome 1210 1319224 CLSPN claspin homolog (Xenopus laevis) Xenopus claspin is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in the presence of DNA templates in Xenopus egg extracts. The human gene appears to be the homolog Xenopus claspin and its function has not been determined. [provided by RefSeq] 1580863 11090622,12791985,15226314,15707391,18451105,18353973,18331829,18077083,17431426,17274954,17102137,17081983,16963448,16951182,16934469,16885022,16885021,16880517,16828751,16710414,16501606,16123041,15489334,15279790,15190204,15096610,12766152,12477932,20029092,16901786,18662541,19124652,19270516,19477924,19737971,19828454,20081369,20233725,20657549 63967 NM_022111,AL354864,CH471059,AF297866,AK308193,BC018670,BC038991,BC062215,BC113116,BC115023,BC115024,BC115025,BC115026,BC115027,BC137279,BC140789,BG109920,NM_001190481 NP_071394,EAX07401,EAX07402,AAG24515,AAH18670,AAH38991,AAH62215,AAI13117,AAI15026,AAI15027,AAI37280,AAI40790,Q05D30,Q1RMC5,Q9HAW4,CAH73807,NP_001177410 Hs.175613 CLASPIN|MGC131612|MGC131613|MGC131615 claspin|claspin homolog|hClaspin protein-coding 1315087 CLSTN1 calsyntenin 1 1580863 16712791,16760430,16710414,15146195,15037614,14702039,12972431,12477932,12421765,11161476,10048485,9373149,8125298,17332754 22883 NM_001009566,AL357140,AL691449,CH471130,AB020718,AF438482,AK000605,AK001591,AK056820,AK225500,AK289798,AK304813,AY545556,AY753301,BC033902,NM_014944,CB132727 NP_055759,NP_001009566,CAI16884,CAI16885,CAI15699,CAI15700,CAI15704,EAW71629,EAW71630,BAA74934,AAQ04552,BAG50945,BAG51814,BAF82487,BAG65563,AAV30551,AAH33902,O94985,Q5SR54,ABM82189,ABM85376 Hs.29665 ALC-ALPHA|CDHR12|CSTN1|FLJ32258|KIAA0911|PIK3CD|XB31alpha|alcalpha1|alcalpha2 OTTHUMP00000001599|alcadein alpha 1|alcadein-alpha|alzheimer-related cadherin-like protein|cadherin-related family member 12|calsyntenin-1|non-classical cadherin XB31alpha|non-classical cadherin XB31alpha1 protein-coding 1350123 CLSTN2 calsyntenin 2 1580863 19606085,19422935,19174780,19058786,18519826,15489334,15037614,14702039,12972431,12498782,12477932,19804789,20379614,20691427 64084 NM_022131,AC010181,AC048346,AC092988,AC108744,AC117390,AC117396,AC117449,CH471052,AJ278018,AK056411,AK096432,AK096818,AK315308,AY753303,BC004871,BC007943,BC103496,BC103506,BC104485 NP_071414,EAW79016,EAW79017,EAW79018,CAC14924,BAG51700,BAG53289,BAG53367,BAG37712,AAV30553,AAH04871,AAH07943,AAI03497,AAI03507,AAI04486,Q9H4D0 Hs.158529 ALC-GAMMA|CDHR13|CS2|CSTN2|FLJ39113|FLJ39499|MGC119560|alcagamma alcadein gamma|alcadein-gamma|cadherin-related family member 13|calsyntenin-2 protein-coding 732033 CLSTN3 calsyntenin 3 1580863 16344560,15489334,15037614,12972431,12498782,12477932,9872452 9746 NM_014718,AC018653,CH471116,AA864252,AB018269,AJ277460,AK299177,AK299246,AK316059,AY753302,BC039075,BC104767,BC111491,BC112283,CR621580,DA092023 NP_055533,EAW88676,EAW88677,EAW88678,EAW88679,EAW88680,BAA34446,CAC33084,BAG61223,BAG61277,BAH14430,AAV30552,AAH39075,AAI04768,AAI11492,AAI12284,Q5UE57,Q8IUW6,Q9BQT9 Hs.535378 CDHR14|CSTN3|KIAA0726|MGC131797|MGC138488|alcbeta alc-beta|alcadein beta|alcadein-beta|cadherin-related family member 14|calsyntenin-3 protein-coding 733774 CLTA clathrin, light chain (Lca) Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,1300048 11031247,11252894,15533940,16799092,17213182,19615732,20562859,10567358,11157096,18165318,16138905,15489334,15164053,12692238,12589051,12477932,12426379,11889126,9373149,8125298,7713494,3267234,2406259,2211724,2204686,1975516,19913121,20628086,9651214 1211 BI090227,BM423666,CA306784,DT220470,NM_001184760,NM_001184761,NM_001184762,CR592974,CR599344,CR599555,CR609772,CR614689,CR615637,CR617120,CR617619,CR618766,CR626844,DQ270158,M20471,M20472,NM_001076677,NM_001833,AL158830,CH471071,NM_007096,AK225153,AK291078,AK295692,BC009201,BC019287,BT007170 NP_001171689,NP_001171690,NP_001171691,ABB76683,AAA51817,AAA59505,P09496,NP_001070145,NP_001824,CAD13387,CAD13388,EAW58310,NP_009027,EAW58311,EAW58312,BAF83767,BAG58543,AAH09201,AAH19287,AAP35834 Hs.522114 LCA OTTHUMP00000215626|OTTHUMP00000215628|clathrin light chain A|clathrin, light polypeptide (Lca) protein-coding 733395 CLTB clathrin, light chain (Lcb) Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 16138905,15489334,12589051,12477932,12426379,11889126,10360576,7836475,7713494,3267234,3128543,2874131,2211724,15533940,16169070,19034380,16341674,1189126,2204686,19913121,20628086 1212 NM_001834,NM_007097,AC138956,CH471195,AK300200,BC006332,BC006457,BM761740,BT007028,CR536577,M20469,M20470 NP_001825,NP_009028,EAW85077,EAW85078,EAW85079,EAW85080,BAG61971,AAH06332,AAH06457,AAP35675,CAG38814,AAA51818,AAA59506,P09497 Hs.484241 LCB clathrin light chain B|clathrin, light chain (Lcb)|clathrin, light polypeptide (Lcb) protein-coding 732795 CLTC clathrin, heavy chain (Hc) Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq] 1580863,1300048 11031247,11252894,14985334,15533940,15858577,1589293,17666399,19478182,19509056,19529763,19654208,19766654,19793827,19859085,11799118,17220478,17353931,1765375,10567358,11157096,19289168,18656476,18363968,18042253,17952123,17550971,17307723,17081065,16903783,16618797,16138905,15917292,15489334,15383276,15324660,15302935,15067034,14702039,14563850,12960147,12952949,12952941,12732633,12665801,12589051,12477932,12429846,12426379,12237126,12221107,12105200,11964161,11889126,11877451,11532990,11451993,11387476,11301005,11278436,10862698,10692452,10477727,10436022,10360576,10336464,10330411,10097102,9827808,9603201,9545220,9280305,9195986,9169477,11532964,11470803,8733129,8276759,7584028,7584026,6147350,2406259,2154445,1587861,9314527,11604514,11423532,16169070,15133132,11517213,20639872,16716190,18614564,20562859,20936779,19913121,20498856,20628086,20566684 1213 NM_004859,AC091271,CH471109,AB073891,AK127134,BC015854,BC036430,BC051800,BC054489,BX473803,BX640615,CR617482,CR625541,CR625967,D21260,X55878 NP_004850,EAW94395,EAW94396,EAW94397,EAW94398,EAW94399,AAH36430,AAH51800,AAH54489,CAE45761,BAA04801,CAA39363,Q00610,Q49AL0 Hs.491351 CHC|CHC17|CLH-17|CLTCL2|Hc|KIAA0034 OTTHUMP00000165785|clathrin heavy chain 1|clathrin heavy chain on chromosome 17|clathrin, heavy polypeptide (Hc)|clathrin, heavy polypeptide-like 2 protein-coding 1350184 CLTCL1 clathrin, heavy chain-like 1 This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. [provided by RefSeq] 1580863 15342556,16799092,19478182,19509056,20065094,20379614,8844170,8733128,17081983,15998911,15790807,15146197,15133132,14702039,12477932,10737800,10436022,8776594,8733129 8218 BP281338,NM_001835,NM_007098,AC000081,AC000085,AC000094,AC004463,CH471176,AK125929,AK294147,AK295264,AK302506,AY927418,BC113030,BC143977,BC143979,BF893495,CN428107,L77568,U41763,U60802,U60803,X95486,X95487 NP_001826,NP_009029,EAX03046,EAX03047,BAH11683,BAH12020,BAH13731,AAI13031,AAC50494,AAB40908,AAB40909,CAA64752,CAA64753,P53675,AAI66681 Hs.368266 CHC22|CLH22|CLTCL|CLTD|FLJ36032 CLH-22|Clathrin, heavy polypeptide D|clathrin heavy chain 2|clathrin heavy chain on chromosome 22|clathrin, heavy polypeptide-like 1 protein-coding 68978 CLU clusterin 1581194,727237,1581195,1626306,734787,1580863 17043677,2387851,16113678,16682745,14718574,19542874,19446882,19413638,19391138,19353783,19344414,19289586,19264665,19220628,19182256,19177010,19166932,19165232,19137541,19118032,18842294,18813793,18806885,18786636,18714397,18712185,18709641,18649357,18612545,18542050,18514801,18458059,18378577,18097679,18082619,18079682,17974975,17872975,17855704,17689225,17535098,17534116,17512083,17451556,17420006,17412999,17322305,17260971,17224269,17203891,17148459,17080454,17056579,17048076,16955214,16806233,16775601,16740002,16709934,16709604,16675913,16490286,16464517,16421571,16335952,16331665,16263699,16179938,15955107,15929184,15925890,15883054,15809754,15791650,15649646,15591223,15538973,15499376,15492264,15489334,15480429,15389725,15304052,15252304,15247015,15158456,15146195,15133840,15033782,14760718,14702039,14618611,12882985,12867999,12860995,12824284,12754519,12679903,12551933,12477932,12470829,12429802,12427144,12393179,12200037,12176985,12172907,12082621,11906815,11892985,11813210,11795992,11714447,11570883,11186422,10329371,10219089,9537999,9336835,9228033,8889548,8843912,8759347,8752142,8634259,8555189,8387101,8345200,8328966,8292612,8181474,7768901,7680346,7626703,7615015,3167096,3154963,2780570,2780565,2721499,2601725,2454950,2185274,1974459,1924317,1903064,1585460,1551440,1491011,1424805,20847305,15689620,20570404,20599866,20697030,20738160,20739100,14630798,15342556,16548883,18239862,19357365,19535339,19651157,19664600,19734902,19734903,19757199,19793084,19814590,19878569,19878770,19879420,19879421,19879422,19879423,19903339,19935703,19940549,19996109,20007348,20009887,20019877,20028970,20057494,20068069,20096688,20209083,20410100,20460622,20534741,20603455,20353268,20058210,20614220,20554627,20497247,20873220,19903745,20850846,20855565,21059989 1581194,727237,1581195,1626306,734787 1191 AAB25217 CR608526,CR609937,CR610613,CR610801,CR611421,CR611535,CR612244,CR613818,CR615018,CR615768,CR616963,CR616998,CR617450,CR617497,CR617881,CR618048,CR619709,CR619820,CR619848,CR620190,CR620616,CR620651,CR621942,CR622570,CR623105,CR623634,CR623710,CR624051,CR624705,CR625885,J02908,M25915,M26639,M64722,M74816,X14723,CR609112,NM_203339,A21577,AF311103,AY172563,AY184486,AY341244,L00974,M63379,AK093399,AK301324,AK313870,AY513288,BC010514,BC013221,BC019588,BC029972,BF528374,BG819541,BG914262,BM723283,BQ181025,BQ181739,BX418836,BX459023,BX648414,CR589989,CR591047,CR591650,CR591665,CR591897,CR592219,CR592779,CR592811,CR593262,CR593810,CR594019,CR594036,CR594231,CR594276,CR594739,CR595225,CR595338,CR596994,CR597230,CR597462,CR597976,CR598074,CR598219,CR599454,CR599502,CR599643,CR599675,CR600109,CR600144,CR601653,CR602228,CR602800,CR603179,CR603735,CR604320,CR604582,CR605669,CR606623,CR606673,CR606818,CR606845,CR607740,CR607913,CR608066,CR608273,NM_001831,BP193735,NM_001171138,NG_027845,HI179162,HI179164 AAA51765,AAA35692,AAA36609,AAB06508,AAA60321,CAA32847,AAB25217,P10909,Q6LDQ3,Q8IWL5,Q8IWM0,ABM82371,ABM85549,NP_001822,NP_976084,CAA01560,AAN87347,AAN78322,AAP88927,AAA60567,AAB06507,BAG52708,BAG62873,BAG36598,AAT08041,AAH10514,AAH19588,CAI45990,NP_001164609,CBX53889,CBX53890 Hs.436657 AAG4|APOJ|CLI|KUB1|MGC24903|SGP-2|SGP2|SP-40|TRPM-2|TRPM2 NA1/NA2|aging-associated protein 4|apo-J|apolipoprotein J|clusterin|complement cytolysis inhibitor|complement lysis inhibitor|complement-associated protein SP-40,40|ku70-binding protein 1|sulfated glycoprotein 2|testosterone-repressed prostate message 2 protein-coding 1354421 CLUAP1 clusterin associated protein 1 1580863 16189514,17203229,15489334,15480429,14702039,12477932,9734811,19253336 23059 NM_015041,NM_024793,AC004224,AC004494,CH471112,AB014543,AB089691,AK023319,AK023359,AK294318,BC017070,CR604131 NP_055856,NP_079069,EAW85352,EAW85353,EAW85354,BAA31618,BAD44779,BAB14523,BAB14542,BAG57592,AAH17070,Q96AJ1 Hs.155995 FAP22|FLJ13297|KIAA0643 clusterin-associated protein 1|flagellar associated protein 22, qilin-like protein, homolog protein-coding 1315705 CLUL1 clusterin-like 1 (retinal) 1580863 19913121,20628086,17286855,15489334,14507903,12477932,10675623,20379614 27098 NM_014410,NM_199167,AP001178,CH471113,AF395889,AK299319,AL712819,AL713125,BC025381,BX108184,D63813,DQ980621 NP_055225,NP_954636,EAX01724,EAX01725,EAX01726,AAM73723,BAH13000,AAH25381,BAA09882,ABJ97142,A0FDN7,Q15846,ABM81845,ABM84996 Hs.725302 RA337M clusterin-like protein 1|retinal-specific clusterin-like protein protein-coding 1312156 CLYBL citrate lyase beta like 1580863 14702039,12477932,11741334,11894096,11368773,12577067,16344560,18821565,20800603,20877624 171425 AK300510,BC034360,NM_206808,AL137139,AL139035,AL359748,AL445184,CH471085,AF428253,AK095506,AW247892,DA621336 BAG62222,AAH34360,Q5JVC0,Q8N0X4,CAI39518,BAC04561,NP_996531,CAI39516,CAI39517,CAI39519,CAI39520,CAI39521,CAH71384,CAH71385,EAX09024,EAX09025,AAL84703 Hs.655642 CLB|bA134O15.1 OTTHUMP00000018626|OTTHUMP00000018627|citrate lyase beta-like|citrate lyase subunit beta-like protein, mitochondrial protein-coding 735367 CMA1 chymase 1, mast cell This gene product is a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Angiotensin II has been implicated in blood pressure control and in the pathogenesis of hypertension, cardiac hypertrophy, and heart failure. Thus, this gene product is a target for cardiovascular disease therapies. This gene maps to 14q11.2 in a cluster of genes encoding other proteases. [provided by RefSeq] 1581742,1625397,1625396,1625394,1580863 20628086,20659024,20736038,19913121,18079408,17851694,17460374,17334631,17035401,16962475,16786130,16520412,16446531,16400609,16317101,16134991,16020275,15924217,15919053,15914614,15788353,15638376,15555355,15489334,15449728,15248847,15227657,15106801,14757520,14701812,14592513,12815038,12614156,12531890,12499576,12484503,12477932,12446192,18641516,12359984,12165749,12097409,1894611,1919436,19332265,18973102,18958543,18856058,18845543,12047032,11852067,11751973,11696688,11303326,11208365,11096141,10899625,10224464,10208809,9931257,9675146,9400368,9257865,8695029,8495723,8468056,8226889,8144971,8027075,7682566,2071582,2049082,20800603,17199219,19380825,19520069,19697770,19853701,19899640,20423454,20424473,20670150 1581742,1625397,1625396,1625394 1215 NM_001836,AL132800,CH471078,M64269,M69137,X59072,AB451464,BC069110,BC069370,BC069490,BC103974,BC103975,DQ082727,DQ082729,M69136,S61334 NP_001827,EAW66007,AAA52020,AAA52021,CAA41796,BAG70278,AAH69110,AAH69370,AAH69490,AAI03975,AAI03976,AAZ06432,AAZ06434,AAA52019,AAB26828,P23946,Q3SY37,Q4FEB3,Q4FEB5 Hs.135626 CYH|MCT1|MGC119890|MGC119891|chymase alpha-chymase|chymase|chymase 1 preproprotein transcript E|chymase 1 preproprotein transcript I|chymase, heart|chymase, mast cell|mast cell protease I protein-coding 1352628 CMAH cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase) pseudogene Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq] 9751737,7608218,18085818,16344560,16272417,14574404,12477932,12192086,11562455,11522390,11181995,9786333,9675135,9624188,8889548,19890979,20800603 8418 NR_002174,NR_027626,AL133268,CH471087,AF074480,AK000716,AK303297,BC022302,BC032500,BC059791,BG536615,CA312822,CR595916,CR611086,CR749466,D86324,DA976765,FJ794466 CAI20561,CAI20562,CAI20563,EAW55476,EAW55477,EAW55478,AAC68881,BAH13934,CAH18297,ACN93797,Q9Y471 Hs.484918 CMAHP|CSAH pseudo 1349283 CMAR cell matrix adhesion regulator 1560826 1322088 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase The enzyme encoded by this gene catalyzes the activation of Neu5Ac to Cytidine 5-prime-monophosphate N-acetylneuraminic acid (CMP-Neu5Ac), which provides the substrate required for the addition of sialic acid. Sialic acids of cell surface glycoproteins and glycolipids play a pivotal role in the structure and function of animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development, and changes with stages of differentiation. Studies of a similar murine protein suggest that this protein localizes to the nucleus. [provided by RefSeq] 1580863 15489334,14702039,12477932,12136098,11893746,11602804,11546777,9689047,9373149,8889549,8889548,8125298,7566098,19666032,21116278 55907 NM_018686,AC007671,AC092862,AJ326388,CH471094,AF271388,AF397212,AK022927,AK222981,AL832975,BC016609,BM671960,CR593371,CR595725,CR607219,CR608833,CR610509,CR614682,CR616717,CR622845,CR625607,CR626093 NP_061156,EAW96464,EAW96465,EAW96466,AAF76203,AAM90580,BAB14311,BAD96701,CAH56346,AAH16609,Q53GF0,Q8NFW8 Hs.311346 CMP-N-acetylneuraminic acid synthase|CMP-N-acetylneuraminic acid synthetase|CMP-Neu5Ac synthetase|CMP-NeuNAc synthase|CMP-NeuNAc synthetase|N-acylneuraminate cytidylyltransferase|cytidine 5'-monophosphate N-acetylneuraminic acid synthetase protein-coding 1606460 CMBL carboxymethylenebutenolidase homolog (Pseudomonas) 3804974,12477932,17353931,16344560,20177059,17207965 134147 NM_138809,AC012640,CH471102,AJ278125,AK074197,AK315390,BC001573,BX647141,DA628493 NP_620164,EAX08070,EAX08071,CAC81950,BAB85014,BAG37783,AAH01573,Q96DG6,ADQ31870 Hs.192586 FLJ23617 carboxymethylenebutenolidase homolog|carboxymethylenebutenolidase-like (Pseudomonas) protein-coding 1606956 CMC1 COX assembly mitochondrial protein homolog (S. cerevisiae) 18443040,12477932,17207965,20877624 152100 NM_182523,AC092503,AC098616,CH471055,AF086095,BC052644,BX648671,CR749370 NP_872329,EAW64390,EAW64391,AAH52644,CAH18223,Q7Z7K0,ADQ33062 Hs.444724 C3orf68|DKFZp779D0833|MGC61571 COX assembly mitochondrial protein homolog|CX9C mitochondrial protein required for full expression of COX 1|OTTHUMP00000208428|OTTHUMP00000208430|cmc1p|mitochondrial metallochaperone-like protein protein-coding 1349369 CMD1A cardiomyopathy, dilated 1A (autosomal dominant) 7951328 1217 1346621 CMD1B cardiomyopathy, dilated 1B (autosomal dominant) 7573045 1218 1348558 CMD1C cardiomyopathy, dilated 1C (autosomal dominant) 8823300 1219 1345968 CMD1D cardiomyopathy, dilated 1D (autosomal dominant) 8521556 1220 1343233 CMD1E cardiomyopathy, dilated 1E (autosomal dominant) 8567977 1221 1353978 CMD1F cardiomyopathy, dilated 1F (autosomal dominant) 9382102 1222 1347211 CMD1H cardiomyopathy, dilated 1H (autosomal dominant) 23459 1349190 CMD1J cardiomyopathy, dilated 1J (autosomal dominant) 10769282 56002 1352561 CMD1K cardiomyopathy, dilated 1K (autosomal dominant) 11085912 65014 1343665 CMD2A cardiomyopathy, dilated 2A (autosomal recessive) 1224 1348222 CMDJ craniometaphyseal dysplasia, Jackson type (dominant) 1225 1344958 CMH2 cardiomyopathy, hypertrophic 2 7981753 1227 1348233 CMH3 cardiomyopathy, hypertrophic 3 1228 1603294 CMIP c-Maf-inducing protein 19019440,16341674,15128042,14702039,12939343,12477932,11214970,20484117,19646677,20018188,20200355,20379614 80790 NM_198390,NM_030629,AC092135,AC092139,AC099480,AC099524,CH471114,AB051481,AK096598,AK304418,AY172689,BC038113,BM789770,CR594637,CV570964 NP_938204,NP_085132,EAW95527,EAW95528,EAW95529,BAB21785,BAH14178,AAO17720,AAH38113,Q8IY22 Hs.725950 KIAA1694|TCMIP C-Maf-inducing protein|c-Mip|tc-Mip|truncated c-Maf-inducing protein protein-coding 1348723 CMKLR1 chemokine-like receptor 1 1580863 14702039,17558413,19906641,20044979,20237496,20379614,9603476,9425281,9144535,19168032,18564921,16904155,16344560,15753205,15489334,15342556,14759258,12477932,8976386,20932654 1240 AK126405,NM_001142343,NM_004072,NM_001142344,NM_001142345,AB065871,AC009729,AC063957,CH471054,L12406,Y14838,AB112777,AK291800,AY497547,BC106927,BC106928,BP328503,BT019556,BT019557,DA466082,DA939526,U79526,U79527 NP_001135815,NP_004063,NP_001135816,NP_001135817,BAC06089,EAW97810,EAW97811,AAQ62778,CAA75112,BAF34667,BAF84489,AAR90850,AAI06928,AAI06929,AAV38363,AAV38364,AAC51258,AAC51259,Q05KQ8,Q6LEE7,Q99788 Hs.197143 CHEMERINR|ChemR23|DEZ|MGC126105|MGC126106 G-protein coupled receptor ChemR23|G-protein coupled receptor DEZ|chemokine receptor-like 1|chemokine-like receptor 1|orphan G-protein coupled receptor, Dez protein-coding 1349386 CMM cutaneous malignant melanoma/dysplastic nevus 1531137 1243 1604360 CMPK1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic Uridine monophosphate (UMP)/cytidine monophosphate (CMP) kinase (EC 2.7.4.4) catalyzes the phosphoryl transfer from ATP to UMP, CMP, and deoxy-CMP (dCMP), resulting in the formation of ADP and the corresponding nucleoside diphosphate. These nucleoside diphosphates are required for cellular nucleic acid synthesis (Liou et al., 2002 [PubMed 11912132]).[supplied by OMIM] 10931946,9373149,8313870,8125298,1286669,10462544,17608725,16710414,15606899,15550676,15489334,15163660,12694191,12477932,11912132,11681623,11453085,172293,19568409,220950 51727 NM_016308,NM_001136140,AL513322,AL607122,CH471059,AF070416,AF087865,AF110643,AF112216,AF259961,AK025258,AK223014,AK293238,AK294294,AK298502,AK312693,BC014961,BC017806,CR592014,CR602827,CR604946,DB494965 NP_057392,NP_001129612,CAI13469,CAI13470,CAI13471,CAI14970,CAI14971,CAI14972,EAX06869,EAX06870,EAX06871,AAF17709,AAP97174,AAD48583,AAF17204,AAG22609,BAD96734,BAG56775,BAG57577,BAG60709,BAG35572,AAH14961,P30085,ABM83139,ABM86334,ABM86335 Hs.727554 CMK|CMPK|RP11-511I2.1|UMK|UMP-CMPK|UMPK OTTHUMP00000039186|UMP-CMP kinase|UMP/CMP kinase|UMP/CMPK|cytidylate kinase|deoxycytidylate kinase|uridine monophosphate kinase|uridine monophosphate/cytidine monophosphate kinase protein-coding 1602074 CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial Mitochondrial UMP-CMP kinase (EC 2.7.2.14) is a component of the salvage pathway for nucleotide synthesis. Other enzymes of the salvage pathway include thymidine kinase-2 (TK2; MIM 188250), deoxynucleotidase-2 (NT5M; MIM 605292), deoxyguanosine kinase (DGUOK; MIM 601465), adenylate kinase-2 (AK2; MIM 103020), adenylate kinase-3 (AK3; MIM 609290), adenylate kinase-3-like-1 (AK3L1; MIM 103030), and nucleoside diphosphate kinase (NME4; MIM 601818) (Xu et al., 2008 [PubMed 17999954]).[supplied by OMIM] 17999954,16344560,12477932,18498354,20379614 129607 NM_207315,AC017076,CH471053,AK127983,AK308509,BC016969,BC089425,BC132821,BC141802,BC144202,CR623316,DA501203 NP_997198,EAX01036,EAX01037,BAC87217,AAH16969,AAH89425,AAI32822,AAI41803,AAI44203,Q5EBM0 Hs.7155 TMPK2|TYKi|UMP-CMPK2 OTTHUMP00000200305|UMP-CMP kinase 2, mitochondrial|cytidylate kinase 2|hypothetical protein loc129607|mitochondrial UMP-CMP kinase|thymidine monophosphate kinase 2|thymidylate kinase family LPS-inducible member protein-coding 1345522 CMR1A cardiomyopathy, restrictive 1A (autosomal dominant) 1245 1352657 CMR2A cardiomyopathy, restrictive 2A (autosomal recessive) 1246 1344628 CMR3A cardiomyopathy, restrictive 3A (X-linked) 1247 1345833 CMT1A Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia) 1677316 1248 1352144 CMT2B Charcot-Marie-Tooth neuropathy 2B 1250 1348357 CMT4A Charcot-Marie-Tooth neuropathy 4A 1251 1316732 CMTM1 CKLF-like MARVEL transmembrane domain containing 1 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 15778092,15147728,12782130,12477932,20237496 113540 NM_181269,NM_181270,NM_181272,NM_181283,NM_181296,NM_052999,NM_181268,AC010542,CH471092,AF278576,AF278577,AY174118,AY174119,AY174120,AY174121,AY174122,AY174123,NM_181271,AY174125,AY174126,AY174127,AY174128,AY174129,AY174130,AY174131,AY174132,AY174133,AY174134,AY174135,AY174136,AY174137,AY174138,BC018586,BC028676,BC057852,DN992496,DQ309766,DQ355985,AY174124 NP_851788,NP_851786,NP_851787,NP_851789,NP_851800,NP_851813,NP_443725,NP_851785,EAW83023,EAW83024,EAW83025,EAW83026,EAW83027,EAW83028,EAW83029,AAK73015,AAK73016,AAN73227,AAN73228,AAN73229,AAN73230,AAN73231,AAN73232,AAN73233,AAN73234,AAN73235,AAN73236,AAN73237,AAN73238,AAN73239,AAN73240,AAN73241,AAN73242,AAN73243,AAN73244,AAN73245,AAN73246,AAN73247,AAH57852,ABC33727,ABC86984,Q0QJI3,Q6PEV5,Q8IZ96 Hs.15159,Hs.698621,Hs.722591 CKLFH|CKLFH1|CKLFSF1|MGC71870 CKLF-like MARVEL transmembrane domain-containing protein 1|chemokine-like factor super family 1|chemokine-like factor superfamily 1|chemokine-like factor superfamily member 1|chemokine-like factor-like protein CKLFH1 protein-coding 1342693 CMTM2 CKLF-like MARVEL transmembrane domain containing 2 This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq] 21034562,17334588,15896670,15778092,15489334,14702039,12782130,12477932 146225 NM_001199317,NM_144673,AC010542,CH471092,AF479260,AK098598,AY862139,BC025354,BI830241 NP_001186246,NP_653274,EAW83030,AAN73038,BAC05345,AAW51946,AAH25354,Q5I2A4,Q8TAZ6,ABM83762,ABW03536 Hs.195685 CKLFSF2|MGC39436 CKLF-like MARVEL transmembrane domain-containing protein 2|chemokine-like factor super family 2|chemokine-like factor superfamily 2|chemokine-like factor superfamily member 2 protein-coding 1318724 CMTM3 CKLF-like MARVEL transmembrane domain containing 3 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq] 19509237,18402773,17002874,15489334,15087455,14702039,12782130,12477932 123920 CT001840,NR_037613,NR_037619,NM_144601,NM_181554,NM_181553,AC018557,CH471092,AF479813,AK056324,AK075075,AY166714,BC023509,BC023591,BC036042,BC040227,BC047701,BI457147,CR589961,CR593528,CR594798,CR596167,CR597108,CR598427,CR599238,CR606357,CR606566,CR608574,NM_001048251,CR611794,CR613081,CR615620,CR616563,CR618108,CR619122,CR621105,CR621723,CR625182 NP_001041716,NP_653202,NP_853532,NP_853531,EAW83031,EAW83032,EAW83033,EAW83034,EAW83035,AAN73435,BAB71150,BAG52060,AAN75573,AAH23509,AAH23591,AAH36042,AAH40227,AAH47701,Q96MX0 Hs.298198 BNAS2|CKLFSF3|FLJ31762|MGC51956 CKLF-like MARVEL transmembrane domain-containing protein 3|chemokine-like factor super family 3|chemokine-like factor superfamily member 3 protein-coding 1320683 CMTM4 CKLF-like MARVEL transmembrane domain containing 4 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1302596,1580863 14702039,12782130,12477932,20213316 1302596 146223 NM_178818,AC018557,CH471092,AF479814,AF521889,AF521890,AK000855,AK126493,AL157468,AW207043,BC093679,CR600851,CR933620,NM_181521 NP_848933,EAW83036,EAW83037,AAN73436,AAN73845,AAN73846,AAH93679,Q8IZR5,NP_852662 Hs.643961 CKLFSF4 CKLF-like MARVEL transmembrane domain-containing protein 4|chemokine-like factor super family 4|chemokine-like factor superfamily member 4 protein-coding 1316008 CMTM5 CKLF-like MARVEL transmembrane domain containing 5 This gene belongs to the chemokine-like factor gene superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 12477932,20356458,19124004,17908965,15489334,14702039,12782130,19577543,17207965 116173 NM_138460,NM_001037288,AL049829,CH471078,CQ893587,AF479262,AF527413,AF527414,AF527948,AK094840,AK289886,AY820135,BC013109,BC029729,AF527949 NP_612469,NP_001032365,EAW66156,EAW66157,EAW66158,EAW66159,EAW66160,CAH68715,AAN73040,AAQ08985,AAQ08986,AAQ09008,AAQ09009,BAC04432,BAF82575,AAV69870,AAH13109,Q5PY48,Q8N1V5,Q96DZ9,ADQ31802 Hs.99272 CKLFSF5|FLJ37521 CKLF-like MARVEL transmembrane domain-containing protein 5|chemokine-like factor super family 5|chemokine-like factor superfamily member 5 protein-coding 1317145 CMTM6 CKLF-like MARVEL transmembrane domain containing 6 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq] 1580863 15489334,14702039,12782130,12477932 54918 NM_017801,AC104306,CH471055,AF116694,AF479261,AK000403,AK172793,BC002797,BC009187,BC027472,BC042995,CR457231 NP_060271,EAW64429,EAW64430,AAF71114,AAN73039,BAA91141,AAH02797,CAG33512,Q9NX76,Q9P1E2 Hs.380627,Hs.440494 CKLFSF6|FLJ20396|PRO2219 CKLF-like MARVEL transmembrane domain-containing protein 6|chemokine-like factor super family 6|chemokine-like factor superfamily 6|chemokine-like factor superfamily member 6 protein-coding 1313855 CMTM7 CKLF-like MARVEL transmembrane domain containing 7 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. The protein encoded by this gene is highly expressed in leukocytes, but its exact function is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 15489334,14702039,12782130,12477932,20400778 112616 AY174113,BC010116,CR590292,CR594621,CR599506,CR604270,CR614533,DQ132881,NM_138410,NM_181472,AC098475,CH471055,AF479263,AK055554,AK308878,AL832450 CAD38626,AAO44955,AAH10116,AAZ57435,Q5VLK1,Q8NDQ0,Q96FZ5,NP_612419,NP_852137,EAW64424,EAW64425,EAW64426,EAW64427,EAW64428,AAN73041 Hs.440494 CKLFSF7|FLJ30992 CKLF-like MARVEL transmembrane domain-containing protein 7|chemokine-like factor super family 7|chemokine-like factor super family member 7 variant 2|chemokine-like factor superfamily 7|chemokine-like factor superfamily member 7 protein-coding 1351246 CMTM8 CKLF-like MARVEL transmembrane domain containing 8 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq] 1580863 17207965,19308021,17681841,17149703,16806010,16263120,15489334,12782130,12477932,18711365,20379614 152189 NM_178868,AC097639,AC103558,CH471055,AF474370,AY598783,BC041390 ADQ32514,NP_849199,EAW64423,AAN73034,AAT11020,AAH41390,Q8IZV2 Hs.154986 CKLFSF8|CKLFSF8-V2 CKLF-like MARVEL transmembrane domain-containing protein 8|chemokine-like factor super family 8|chemokine-like factor superfamily 8|chemokine-like factor superfamily member 8 protein-coding 1353077 CMTX2 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) 1253 1343738 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) 2245309 1254 1321357 CMYA5 cardiomyopathy associated 5 18344630,17872945,17353931,16407236,14702039,14688250,12477932,20634290,19140017 202333 NM_153610,AC008482,AC008496,AC026779,AC109488,CH471084,AF177292,AF533705,AK092699,AK096453,AK123466,AL359338,AL831966,AL831968,AL831986,AL832021,AL832347,AL832368,AL832376,AL834252,BC020856,BC022422,BC022430,BC029434,BC046215,BC062664,BC063134,BC111529,BC111530,BX647452,BX647628,BX647646 NP_705838,EAW95839,AAD55265,AAQ09018,CAD38607,CAD38609,CAD91143,CAH10406,CAD91158,CAH10402,CAD38928,AAH20856,AAH22422,AAH62664,AAH63134,AAI11530,AAI11531,Q8N3K9 Hs.482625 C5orf10|DKFZp451G182|DKFZp451G223|SPRYD2|TRIM76 2310076E16Rik|SPRY domain-containing protein 2|cardiomyopathy-associated protein 5|dystrobrevin-binding protein 2|genethonin-3|myospryn|tripartite motif-containing 76|tripartite motif-containing protein 76 protein-coding 1352367 CNA1 cornea plana 1 (autosomal dominant) 1255 1603547 CNBD1 cyclic nucleotide binding domain containing 1 18825932,14702039,12477932,20379614 168975 NM_173538,AC011146,AC025089,AC025522,AC090572,AC093333,AC100799,CH471060,AK093121,BC117326,BC117328 NP_775809,EAW91648,BAC04062,AAI17327,AAI17329,Q8NA66 Hs.246284 FLJ35802 cyclic nucleotide-binding domain-containing protein 1 protein-coding 733498 CNBP CCHC-type zinc finger, nucleic acid binding protein This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20102514,17353931,2562787,18975316,18804219,17672918,17327219,17068784,16624843,16376058,16344560,16341674,15652222,15489334,15476170,15342556,15261229,14702039,12857921,12477932,11486088,9921867,7896269,7590281,2249857,20174632,20616365 7555 NM_001127192,NM_001127193,NM_001127194,NM_001127195,NM_001127196,NG_011902,AC108673,AC135587,AF388525,AF388526,AY329622,CH471052,U19765,AK021693,AK054592,AK292119,AK298154,AK314380,AY436367,BC000288,BC014911,NM_003418,BC093058,BM786378,BP267181,BT019613,BU616793,CR592970,CR594065,CR596443,CR597317,CR599232,CR602369,CR606309,CR608484,CR608775,CR610184,CR614312,CR615983,CR616385,CR618662,CR622873,CR625456,CR626515,DA606481,DB027227,DQ091187,DQ092366,DQ092367,M28372 NP_003409,NP_001120664,NP_001120665,NP_001120666,NP_001120667,NP_001120668,AAR89462,EAW79271,EAW79272,EAW79273,EAW79274,EAW79275,EAW79276,EAW79277,AAA91782,BAB70769,BAF84808,BAG60429,BAG37006,AAR11855,AAH00288,AAH14911,AAH93058,AAV38419,AAY89856,AAY96754,AAY96755,AAA61975,P62633,Q4JGY0,Q4JGY1,Q5U0E9,Q6T598 Hs.518249 CNBP1|DM2|FLJ11631|PROMM|RNF163|ZCCHC22|ZNF9 OTTHUMP00000217106|OTTHUMP00000217107|OTTHUMP00000217108|OTTHUMP00000217109|cellular nucleic acid binding protein|cellular nucleic acid-binding protein|erythroid differentiation-related|sterol regulatory element-binding protein|zinc finger protein 273|zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) protein-coding 1354443 CNC Carney complex, multiple neoplasia and lentiginosis 8609225 1257 1344598 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq] 737633,1580863 19373489,18753673,18535186,17601992,17601991,17205963,17121880,16965804,16335952,16046297,15489334,14560319,12975309,12477932,12473676,11329013,8889548,7116644,6616870,19577318,19929986,20299368,20332346,20379614,20460427,20711718,20851293,20865290,20971102,20979941 737633 84735 BG202268,BI597577,BM662490,CR610360,H41544,BC117122,AC009704,AC116904,AX139747,CH471117,NM_032649,AJ417564,AK098369,AK131263,AK289916,AK303708,AK308716,AK314572,AY358756,BC004271,BC110295,BC113512 AAI17123,Q96KN2,NP_116038,CAC40015,EAW66559,EAW66560,EAW66561,EAW66562,CAD10388,BAF82605,BAG64692,AAQ89116,AAI10296,AAI13513,ADR83013 Hs.400613 CN1|CPGL2|HsT2308|MGC102737|MGC10825|MGC142072 CNDP dipeptidase 1|beta-Ala-His dipeptidase|carnosinase 1|glutamate carboxypeptidase-like protein 2|serum carnosinase protein-coding 1314094 CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM] 737633,1580863 18753673,18535186,15489334,14702039,12477932,12473676,19373489,17220478,20199107,8889548 737633 55748 AC009704,CH471117,AF258592,AJ347717,AK001262,AK001692,AK001983,AK024471,AK097155,AK298309,AK300904,BC001375,BC003176,CR590069,CR593876,CR615933,NM_018235,AX523938,BM675304,BQ183399,DC313148,DC392026,NM_001168499 NP_060705,EAW66550,EAW66551,EAW66552,EAW66553,EAW66554,EAW66555,EAW66556,EAW66557,EAW66558,AAG23795,CAC69883,BAA91587,BAA91840,BAA92018,BAB15761,BAG53426,BAG60563,BAG62540,AAH01375,AAH03176,Q96KP4,Q9H7K8,Q9NUV1,Q9NW02,CAD56843,NP_001161971 Hs.149185 CN2|CPGL|FLJ10830|HsT2298|PEPA cytosolic non-specific dipeptidase|cytosolic nonspecific dipeptidase|glutamate carboxypeptidase-like protein 1|peptidase A protein-coding 1350274 CNFN cornifelin 1580863 15147942,15489334,12477932,9115270 84518 NM_032488,AC011497,CH471126,AB049591,AK312080,BC101197,BC101198 NP_115877,EAW57134,BAB40656,BAG35016,AAI01198,AAI01199,Q9BYD5 Hs.148590 PLAC8L2 cornefied envelope protein cornefilin|cornifelin protein-coding 730948 CNGA1 cyclic nucleotide gated channel alpha 1 The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300380,1580863 7532814,1379636,1372959,1372902,20801516,7479749,16382102,15713832,15570217,12693957,12467592,12432397,12388767,12362048,8889549,7683629 1300380 1259 NM_000087,NM_001142564,NG_009193,AC096749,AC107068,CH471069,S76062,AK292021,M84741,S42457,W89170,W93472,X64802 NP_000078,NP_001136036,AAY40919,EAW93048,EAW93049,AAD14206,BAF84710,AAA52010,AAB22778,CAA46027,P29973,Q08124,Q4W5E3,AAI40400 Hs.1323 CNCG|CNCG1|CNG1|RCNC1|RCNCa|RCNCalpha|RP49 CNG channel alpha-1|CNG-1|OTTHUMP00000218675|OTTHUMP00000223313|OTTHUMP00000223314|cGMP-gated cation channel alpha-1|cyclic nucleotide-gated cation channel 1|cyclic nucleotide-gated channel alpha-1|cyclic nucleotide-gated channel, photoreceptor|interleukin-1 homologue|rod photoreceptor cGMP-gated channel subunit alpha protein-coding 736824 CNGA2 cyclic nucleotide gated channel alpha 2 1580863 12477932,9539801,9512030,7532814,12626507,16533895,16382102,15489334,14618336,14604981 1260 NG_016352,NM_005140,AF002992,CH471169,S76067,AK128186,BC126302,BC126304 NP_005131,EAW99409,AAD14207,BAG54645,AAI26303,AAI26305,Q16280 Hs.447360 CNCA|CNCA1|CNG2|FLJ46312|OCNC1|OCNCALPHA|OCNCa CNG channel alpha-2|CNG-2|cyclic nucleotide-gated cation channel 2|cyclic nucleotide-gated channel alpha-2|cyclic nucleotide-gated olfactory channel|cyclic-nucleotide-gated cation channel 2|cyclic-nucleotide-gated olfactory channel protein-coding 733295 CNGA3 cyclic nucleotide gated channel alpha 3 This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq] 734792,1580863 20549516,19592100,20079539,9517456,9662398,18636117,18521937,18445228,17693388,17286855,17018579,16961972,16382102,16319819,15815621,15743887,15712225,15489334,15134637,15024024,14757870,12477932,12432397,11536077,10888875,9721202,9158143,7532814,20506298,20454696,20801516 734792 1261 NM_001298,NM_001079878,NG_009097,CH471127,S76069,AF065314,AK131300,AK308149,BC096298,BC096299,BC096300,DQ067460,DQ426863,DR002103,AC092675 NP_001289,NP_001073347,AAY24181,EAX01911,AAD14208,AAC17440,BAD18468,AAH96298,AAH96299,AAH96300,Q16281,Q4VAP7,Q6ZNA7 Hs.234785 ACHM2|CCNC1|CCNCa|CCNCalpha|CNCG3|CNG3 CNG channel alpha-3|CNG-3|OTTHUMP00000161120|OTTHUMP00000203133|cone photoreceptor cGMP-gated channel alpha subunit|cone photoreceptor cGMP-gated channel subunit alpha|cyclic nucleotide-gated cation channel alpha-3|cyclic nucleotide-gated channel alpha-3 protein-coding 1603715 CNGA4 cyclic nucleotide gated channel alpha 4 CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM] 16382102,14702039,12649326,12477932,11764791,11739959 1262 NM_001037329,AC022762,CH471064,AK122736,AK302551,BC040277,BC106935,BC106936 NP_001032406,EAW68736,BAG63820,AAH40277,Q8IV77,AAI60170 Hs.434618 CNCA2|CNG5|CNGB2|MGC126168|MGC126169|OCNC2|OCNCBETA|OCNCb CNG channel alpha-4|CNG-4|CNG4|cyclic nucleotide gated channel beta 2|cyclic nucleotide-gated cation channel alpha-4|cyclic nucleotide-gated channel alpha-4 protein-coding 732601 CNGB1 cyclic nucleotide gated channel beta 1 734793 20591486,16169070,20126465,20201926,8766832,7682292,7590744,7526403,1821816,8889548,19299621,16382102,15557452,12107411,12048242,11641407,11379879,11074001,10466724,9535905,20801516 734793 1258 AAB32607 NG_016351,NM_001297,NM_001135639,AC010543,CH471092,L15296,L15297,AF042498,BM672421,BM678849,BQ638084,CR626336,EL945866,U18945,U58837 NP_001288,NP_001129111,EAW82957,EAW82958,AAA65620,AAA65619,AAC04830,AAA91633,AAB63387,AAB32607,Q14028,AAI40365,AAI56723 Hs.147062 CNCG2|CNCG3L|CNCG4|CNG4|CNGB1B|GAR1|GARP|RCNC2|RCNCb|RCNCbeta|RP45 CNG channel beta-1|CNG-4|cyclic nucleotide gated channel (photoreceptor), cGMP gated 3 (gamma)-like|cyclic nucleotide-gated cation channel 4|cyclic nucleotide-gated cation channel beta-1|cyclic nucleotide-gated cation channel gamma|cyclic nucleotide-gated cation channel modulatory subunit|cyclic nucleotide-gated channel beta-1|glutamic acid-rich protein|glutamic-acid-rich protein protein-coding 1352344 CNGB3 cyclic nucleotide gated channel beta 3 1600870,1580863 20454696,10888875,17652762,17651254,17265047,17018579,16382102,16379026,16319819,15712225,15223812,15161866,15134637,14757870,12815043,12730238,10958649,10330355,1347967,20378608,15657609,12477932,19592100,19767295,20079539,20379614,20801516 1600870 54714 NM_019098,AC013751,AC090572,CH471060,AF228520,AF272900,BC150601,BX118844,AL713036,NG_016980 NP_061971,EAW91644,EAW91645,EAW91646,AAF80179,AAF86274,AAI50602,Q9NQW8 Hs.154433 ACHM1|ACHM3|RMCH|RMCH1 CNG channel beta-3|cone photoreceptor cGMP-gated cation channel beta-subunit|cyclic nucleotide-gated cation channel beta-3|cyclic nucleotide-gated cation channel modulatory subunit protein-coding 1323800 CNIH cornichon homolog (Drosophila) 1580863 10209299,17607000,16303743,15489334,12975309,12477932,11042152 10175 NM_005776,AL359792,CH471061,CQ782718,AF070654,AF104398,AK074781,AK307074,AK311897,AY358635,BC103741,BG503618,BQ233425,BQ937490,BX248284,CR596676,CR615588,CR616723 NP_005767,EAW80635,EAW80636,EAW80637,CAF85952,AAD20960,AAC98388,BAG52000,BAG34838,AAQ88998,AAI03742,CAD62612,O95406,Q86TY6 Hs.727518 CNIH1|CNIL|MGC117156|TGAM77 T-cell growth-associated molecule 77|cornichon-like|protein cornichon homolog protein-coding 1352659 CNIH2 cornichon homolog 2 (Drosophila) 737633,1580863 17207965,17229890,15489334,12477932 737633 254263 NM_182553,AP001107,CH471076,AY726585,BC047953,CR594991,CR610128 ADQ32996,NP_872359,EAW74508,AAH47953,Q6PI25,AAI60083 Hs.437072 CNIH-2|Cnil|MGC50896 cornichon-like protein|protein cornichon homolog 2 protein-coding 1343893 CNIH3 cornichon homolog 3 (Drosophila) 1580863 16710414,15489334,14702039,12477932,9110174,8619474,17207965,20379614 149111 NM_152495,AC096537,AL596330,CH471098,AF070524,AK096312,BC022780,CR595048 NP_689708,CAH73437,EAW69732,BAC04760,AAH22780,Q8TBE1,ADQ31813 Hs.28659 CNIH-3|FLJ38993 protein cornichon homolog 3 protein-coding 1606011 CNIH4 cornichon homolog 4 (Drosophila) 17353931,11256614,16381901,15489336,15489334,12477932,11230166,11076863,11042152,9373149,8125298,21042317 29097 AC099790,CH471098,CS072304,AF161512,AK222634,AK289973,AK312064,AL136930,BC000573,BC039037,BX649076,CR590797,NM_014184,AK024569 Q9P003,CAL37844,CAL38029,CAL38379,ABM82827,ABM86013,NP_054903,EAW69717,EAW69718,EAW69719,CAI93442,AAF29127,BAD96354,BAF82662,BAG35000,CAB66864,AAH00573,Q53HE6 Hs.445890 HSPC163 protein cornichon homolog 4 protein-coding 1323565 CNKSR1 connector enhancer of kinase suppressor of Ras 1 This gene is a necessary element in receptor tyrosine kinase pathways, possibly as a tyrosine phosphorylation target. It is involved in regulation of RAF in the MAPK pathway and may also play a role in a MAPK-independent pathway. [provided by RefSeq] 1580863 14749388,9814705,15075335,16964243,16344560,16289034,15845549,15753034,15489334,14702039,12477932,10557308,9373149,8125298,16189514,14724641,20383191,15231748,15670823,16825666,19718030,9427625,20634316,20197385 10256 NM_006314,NR_023345,AL355877,AL391650,CH471059,AB209335,AF100153,AK001900,AK222817,AK222904,AK292646,AK296814,AK302056,BC011604,BC012797,BT006900,CR624234,DA445069,DA868484,DR159101 NP_006305,CAH71542,CAH71543,CAI17138,CAI17139,EAX07840,EAX07841,EAX07842,BAD92572,AAC80558,BAD96537,BAD96624,BAF85335,BAG59387,BAG63446,AAH11604,AAH12797,AAP35546,Q53GW4,Q59FX4,Q969H4,ABM83167,ABM86367 Hs.726160 CNK|CNK1|KSR CNK homolog protein 1|connector enhancer of KSR 1|connector enhancer of KSR-like|connector enhancer of kinase suppressor of ras 1|hCNK1 protein-coding 1350323 CNKSR2 connector enhancer of kinase suppressor of Ras 2 1580863 17353931,18029348,18287031,15772651,15489334,14702039,14597674,12477932,10048485,12390249,10207009,15028221,15342556,16344560,16637659,18790760,19260141,19563921,19615732,7757816,8889548 22866 NM_014927,AL772392,AL807781,AL928874,CH471074,AB020709,AF418269,AF418270,AK056549,AK124258,AK294728,BC126121,BC136289,BC143839,AI817268,BC092447,BM692904,BP200041,DA067208,DA123093,F09543,NG_016266,NM_001168647,NM_001168648,NM_001168649,T65396,Z40257 NP_055742,CAI40765,CAI40766,CAI39866,CAI39867,CAH70863,CAH70864,EAW98976,EAW98977,EAW98978,BAA74925,AAL60502,AAL60503,BAG51744,BAG57875,AAI26122,AAI36290,AAI43840,Q8WXI2,NP_001162118,NP_001162119,NP_001162120 Hs.555917 CNK2|KIAA0902|KSR2|MAGUIN CNK homolog protein 2|OTTHUMP00000023042|connector enhancer of KSR 2|connector enhancer of KSR2|connector enhancer of kinase suppressor of ras 2|membrane-associated guanylate kinase-interacting protein protein-coding 1316799 CNKSR3 CNKSR family member 3 14702039,12477932,15509766,19567370,20379614 154043 NM_173515,AL357075,CH471051,AK055911,AK309680,AY328891,AY328892,AY328893,AY328894,BC060761 NP_775786,CAI14543,CAI14544,CAI14545,EAW47699,BAB71044,AAQ92306,AAQ92307,AAQ92308,AAQ92309,AAH60761,Q6P9H4 Hs.16064 FLJ31349|MAGI1|RP11-486M3.1 CNK homolog protein 3|CNK3|OTTHUMP00000212054|connector enhancer of KSR 3|connector enhancer of kinase suppressor of ras 3|maguin-like protein|membrane associated guanylate kinase interacting protein-like 1|membrane associated guanylate kinase, WW and PDZ domain containing 1|membrane-associated guanylate kinase-interacting protein-like 1 protein-coding 731921 CNN1 calponin 1, basic, smooth muscle 1580863 19913121,20628086,19391217,8616889,17207965,20530411,14550641,17707120,17556051,17550897,15489334,15206927,12606518,12480535,12477932,12033495,11920541,9645345,9373149,9332369,9312127,9049805,9001224,8864837,8526917,8125298,2455687,2161834 1264 AK301888,AK316406,NM_001299,AC008481,CH471106,D85611,AK223234,AK300837,AK313255,BC022015,BC036307,CR615873,CR620483,D17408,D86058,S80560,U37019 BAH13577,BAH14777,ADQ32707,NP_001290,EAW84228,EAW84229,BAA19538,BAD96954,BAG62488,BAG36065,AAH22015,AAH36307,BAA04231,BAA12983,AAB35751,AAC51780,P51911,Q53FP8 Hs.465929 SMCC|Sm-Calp basic calponin|calponin H1, smooth muscle|calponin-1|calponins, basic protein-coding 1350375 CNN2 calponin 2 The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16236705,8889829,14702039,12665801,12388067,10830953,9373149,9049805,9001224,8889548,8125298 1265 CR602855,CR603928,CR606476,CR607371,CR611249,CR615042,CR616871,CR618608,D83735,D86059,NM_201277,AC004528,AC011558,CH471139,AK024835,AK057960,AK093630,AK126391,AK222924,AK293171,AK295271,AK297774,AK300788,AY927514,BC141818,BC141833,BC148264,NM_004368,BM976651,BQ876824,BQ919304,BU844400,CR541810,CR541831,CR592088,CR592852,CR598250 BAA12090,BAA20887,Q53GK7,Q6FHC3,Q6FHE4,Q99439,NP_004359,NP_958434,EAW69565,EAW69566,EAW69567,EAW69568,EAW69569,EAW69570,BAG54322,BAD96644,BAG56715,BAG58257,BAG60119,BAG62450,AAI41819,AAI41834,AAI48265,CAG46609,CAG46630 Hs.651512 calponin H2, smooth muscle|calponin-2|neutral calponin protein-coding 731963 CNN3 calponin 3, acidic This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq] 1580863 20379614,18927281,17825283,17081983,16710414,15489334,15206927,15146197,12477932,12033495,11591653,10457177,8889548,8526917 1266 AK316398,NM_001839,AC093429,AC105942,AL359554,CH471097,AK294141,AK298145,AK312370,BC025372,BM669529,BU149686,BU608403,CA944820,CN418286,CR541848,CR618809,CR619086,CR622382,DC422152,DR157009,S80562 BAH14769,NP_001830,CAC36092,CAC36093,EAW73029,BAG57467,BAG60421,BAG35288,AAH25372,CAG46646,AAB35752,Q15417,Q6FHA7,Q9BWY6,ABM83939,ABM87257 Hs.483454 OTTHUMP00000012471|calponin, acidic isoform|calponin-3|dJ639P13.2.2 (acidic calponin 3) protein-coding 4107117 CNN3P1 calponin 3, acidic pseudogene 1 643875 AL137181,NG_022343 pseudo 1318672 CNNM1 cyclin M1 16344560,14723793,14702039,12657465,12477932,16385451,20379614 26507 NM_020348,AL391684,CH471066,AF169226,AK056194,AK308326,AK308618,AK310486,AL137536,BC098103,BC098134,BC098279,BC098307,BI868774,DA326933,DA758649,DB067736,AK296545,AK299346 NP_065081,CAH73858,EAW49870,EAW49871,AAF86357,BAG51644,CAB70798,AAH98103,AAH98134,AAH98279,AAH98307,Q9NRU3,BAG59169,BAH13009 Hs.274579 ACDP1|FLJ31632 ancient conserved domain protein 1|ancient conserved domain-containing protein 1|cyclin-M1|metal transporter CNNM1 protein-coding 1317777 CNNM2 cyclin M2 14702039,12657465,12477932,20364137,16385451,19430483,19915575,20379614,20479155 54805 NM_017649,NM_199076,NM_199077,AL139817,AL356608,CH471066,AF216962,AK000071,AK023479,AK090785,BC021222,AK023066 NP_060119,NP_951058,NP_951059,CAI40076,CAI40077,CAI16511,CAI16512,CAI16513,EAW49659,EAW49660,EAW49661,EAW49662,EAW49663,EAW49664,AAF86374,BAA90926,BAB14386,BAB14585,AAH21222,Q9H8M5 Hs.657970,Hs.643509 ACDP2 OTTHUMP00000020387|OTTHUMP00000020388|ancient conserved domain protein 2|ancient conserved domain-containing protein 2|cyclin-M2|metal transporter CNNM2 protein-coding 1317403 CNNM3 cyclin M3 17353931,16189514,14702039,12657465,12477932,20932654,19060904 26505 NM_017623,NM_199078,AC092636,CH471207,AF216965,AK000025,AK126847,AK128698,BC007199,BC018604,BC022944,BC037272,BE465992,BE676454,CR749702 NP_060093,NP_951060,AAY14964,EAW71334,EAW71335,EAW71336,EAW71337,AAF86377,BAA90891,BAG54379,AAH07199,AAH22944,AAH37272,CAH18480,Q68CV4,Q8NE01 Hs.711617 ACDP3|DKFZp434I1016|FLJ20018 ancient conserved domain protein 3|ancient conserved domain-containing protein 3|cyclin-M3|metal transporter CNNM3 protein-coding 1313679 CNNM4 cyclin M4 19200527,19200525,14702039,12657465,12477932,12461695,10997877,17353931,15173235,15840172,18711365,3236352 26504 NM_020184,AC092636,CH471207,AB046812,AF202777,AK022833,AK293915,AL833905,BC063295,AK095065,NG_016608 NP_064569,AAY14963,EAW71340,BAB13418,AAF86370,BAB14266,BAH11626,CAD38761,AAH63295,Q6P4Q7,Q8NDH5 Hs.175043 ACDP4|FLJ37746|FLJ42791|KIAA1592 ancient conserved domain protein 4|ancient conserved domain-containing protein 4|cyclin-M4|metal transporter CNNM4 protein-coding 1602324 CNO cappuccino homolog (mouse) This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. 15489334,15102850,14702039,12923531,12576321,12477932,12191018,11110696,11031247,11252894 55330 NM_018366,AC093323,CH471131,AF085849,AI679712,AK002092,BC001818,BC009890,BC067815,CR598245,CR599774,CR603319,CR613059,CR625701,CR626399 NP_060836,EAW82382,BAA92080,AAH67815,Q9NUP1 Hs.7570 BCAS4L|FLJ11230 protein cappuccino homolog protein-coding 1602129 CNOT1 CCR4-NOT transcription complex, subunit 1 16712791,17353931,16778766,14702039,12477932,11972353,11733989,10637334,10231032,8889548,17643375,19305408,19305409,19558367,19615732,20062063 23019 NM_206999,AC009118,AC010287,AB023224,AF110778,AJ346264,AK056927,AK075125,AK092885,AK300281,AK301092,AK302495,AL117492,AL832769,AL833549,BC000779,BC011861,BC024317,BC027969,NM_016284,BC040523,BM968443,BX537840,BX647815,CB162525,CR749237,EF553522 NP_057368,NP_996882,BAA76851,AAF14861,BAG51828,BAG52622,BAG62040,BAH13408,BAG63779,CAB55960,AAH00779,AAH24317,AAH40523,CAD97851,CAH18093,ABQ66268,A5YKK6 Hs.725184,Hs.460923 AD-005|CDC39|DKFZp686E0722|DKFZp686O168|FLJ36492|FLJ90644|KIAA1007|NOT1|NOT1H CCR4-NOT transcription complex subunit 1|CCR4-associated factor 1|NOT1 (negative regulator of transcription 1, yeast) homolog|adrenal gland protein AD-005|hNOT1|negative regulator of transcription subunit 1 homolog protein-coding 1343563 CNOT10 CCR4-NOT transcription complex, subunit 10 1580863 17353931,17452450,18377426,16730941,14702039,12477932,1348029,19615732 25904 BC002928,BC002931,BC006382,AC138972,AC139452,CH471055,Z14236,AK021695,AK022576,AK022952,AK023227,AK027026,AK297085,AK298693,AK302196,AK309670,NM_015442,AL117639 CAB56027,AAH02928,AAH02931,Q9H9A5,ABM83821,ABM87142,ACE87181,ACE86500,NP_056257,EAW64434,EAW64435,EAW64436,CAA78605,BAB13876,BAB14108,BAB14327,BAB14478,BAB15629,BAH12492,BAH12849,BAH13647 Hs.444851 DKFZp434K115|FLJ12890|FLJ13165 CCR4-NOT transcription complex subunit 10|OTTHUMP00000208868 protein-coding 1323253 CNOT2 CCR4-NOT transcription complex, subunit 2 1580863 12882519,19558367,20211142,10637334,17452450,18377426,16712523,16344560,16189514,16039607,15489334,14707134,14702039,12477932,11042152,16778766,20379614 4848 NM_014515,AC025569,AC092881,CH471054,AF044215,AF113226,AF161480,AF180473,AK000662,AK095789,AK129966,AK307479,AK315715,AL137674,AY395696,BC002597,BC011826,BX641116,CR599299,CR626758,DA445519,AA234384,DB038192,NM_001199302,NM_001199303,NR_037615 NP_055330,EAW97245,EAW97246,EAW97247,EAW97248,EAW97249,AAQ13426,AAG39297,AAF29095,AAF29827,BAA91313,BAG53128,BAC85263,BAG38074,CAB70869,AAR32245,AAH02597,AAH11826,CAE46054,Q6TKS8,NP_001186231,NP_001186232,Q6ZP62,Q9NZN8,ABZ92477 Hs.133350 CDC36|FLJ26456|HSPC131|NOT2|NOT2H CCR4-NOT transcription complex subunit 2|CCR4-associated factor 2|NOT2 (negative regulator of transcription 2, yeast) homolog|negative regulator of transcription 2 protein-coding 1312407 CNOT3 CCR4-NOT transcription complex, subunit 3 1580863 12207886,16189514,15752756,15489334,15302935,12477932,10941842,10637334,9734811,16341674,16344560,16778766,17452450,18029348,18377426,20970119 4849 AF211967,AI660119,AK160386,AL133647,BC016474,BQ439042,BU859614,CR591690,NM_014516,AC012314,CH471135,AB014591,AF180474,AK300434,BM781759,BP390470,DB076207 AAF29828,BAD18729,CAB63766,AAH16474,O75175,Q6ZMJ6,NP_055331,EAW72192,EAW72193,EAW72194,BAA31666,BAH13283 Hs.343571 KIAA0691|LENG2|NOT3|NOT3H CCR4-NOT transcription complex subunit 3|CCR4-associated factor 3|NOT3 (negative regulator of transcription 3, yeast) homolog|OTTHUMP00000197713|leukocyte receptor cluster member 2 protein-coding 1321153 CNOT4 CCR4-NOT transcription complex, subunit 4 15489334,15001359,14702039,12477932,11823428,11087754,10637334,19690564,12107410,16344560,18029348,19346402,19558367,20379614 4850 NM_013316,NM_001008225,AC009331,AC083871,CH236950,CH471070,AF091094,AF180475,AK074493,AK074671,AK300365,AK314540,AL389980,AL519669,BC035590,CR596624,U71267,U71268,CA396599,DA247976,NM_001190847,NM_001190848,NM_001190849,NM_001190850 NP_037448,NP_001008226,EAW83849,EAW83850,EAW83851,EAW83852,EAW83853,EAW83854,AAC72963,AAF29829,BAG51961,BAC11125,BAH13270,CAB97536,AAH35590,AAD00179,AAD00180,O95628,NP_001177776,NP_001177777,NP_001177778,NP_001177779 Hs.490224 CLONE243|NOT4|NOT4H CCR4-NOT transcription complex subunit 4|CCR4-associated factor 4|E3 ubiquitin-protein ligase CNOT4|NOT4 (negative regulator of transcription 4, yeast) homolog|OTTHUMP00000208247|OTTHUMP00000208248|potential transcriptional repressor NOT4Hp protein-coding 1351119 CNOT5 CCR4-NOT transcription complex, subunit 5 10880468 60403 1347023 CNOT6 CCR4-NOT transcription complex, subunit 6 The protein encoded by this gene is a subunit of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substates. [provided by RefSeq] 17452450,18818012,18180299,16341674,15314026,14702039,12771185,12477932,11889047,11747467,10637334,10574462,8586417,19558367 57472 BQ232180,AC034213,AC122714,AJ426335,CH471165,AB033020,AK023599,AK314752,AL110144,BC015331,BC027476,BC073142,BC090918,BC114958,BC152469,BF940524,BM769589,NM_015455,CR601971,CR617731,D20789 NP_056270,CAD32417,EAW53752,EAW53753,EAW53754,BAA86508,BAG37291,AAH27476,AAI52470,Q8TAJ0,Q9ULM6,AAI60174 Hs.608380 CCR4|KIAA1194 CCR4 carbon catabolite repression 4-like|CCR4-NOT transcription complex subunit 6|OTTHUMP00000161544|carbon catabolite repression 4 protein|carbon catabolite repressor protein 4 homolog|cytoplasmic deadenylase protein-coding 1319296 CNOT6L CCR4-NOT transcription complex, subunit 6-like 20628353,17353931,17452450,18377426,16344560,14702039,20379614,20211142,20818722 246175 AK027214,AK058188,AK124855,AK303417,AK304397,AL133112,CR603394,DA043791,DB454180,NM_144571,AC104701,CH471057 EAX05818,EAX05819,BAB71707,BAG64470,BAG65232,CAB61415,Q96LI5,AAI52817,NP_653172 Hs.592519 CCR4b CCR4-NOT transcription complex subunit 6-like|OTTHUMP00000219081|OTTHUMP00000219082|OTTHUMP00000219083|carbon catabolite repressor protein 4 homolog B protein-coding 2303314 CNOT6LP1 CCR4-NOT transcription complex, subunit 6-like pseudogene 1 729530 NG_009481,AC039057 pseudo 1313268 CNOT7 CCR4-NOT transcription complex, subunit 7 The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The protein has both mouse and yeast orthologs. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 633241,1580863 9820826,18084094,17264152,16344560,15489334,14702039,12845644,12477932,10637334,9373149,8889549,8125298,7791755,1538749,18056425,10602502,11136725,9712883,11429045,18377426,19558367,19605561,20098747 633241 29883 NM_013354,NM_054026,AC091050,CH471080,AA134869,AA165288,AF086915,AK001209,AK021808,AK023466,AK225893,AL833642,AW448990,BC007315,BC060852,BC070187,BM468592,BT006685,DA752620,L46722 NP_037486,NP_473367,EAW63820,EAW63821,EAW63822,EAW63823,AAP97145,BAG50869,BAG51053,BAG51197,AAH07315,AAH60852,AAH70187,AAP35331,AAF01500,Q96IQ6,Q9UIV1 Hs.645009,Hs.711543 CAF1|hCAF-1 BTG1 binding factor 1|BTG1-binding factor 1|CAF-1|CCR4-NOT transcription complex subunit 7|CCR4-associated factor 1|carbon catabolite repressor protein (CCR4)-associative factor 1 protein-coding 1314995 CNOT8 CCR4-NOT transcription complex, subunit 8 1580863 20595389,20595394,17353931,10036195,9820826,17178784,16381901,15489336,15489334,14702039,12771185,12477932,11230166,11136725,11076863,10637334,16189514,11256614,16778766,19558367,19605561,20065043 9337 AF087844,AF180476,AK025358,AK297381,AK299589,AK303775,AK309359,AK314317,AK315864,AK316055,AK316221,AK316269,AL122045,BC017366,BC093025,BT006857,BX647124,CR605052,CR611638,NM_004779,AC112169,CH471062,AF053318 AAP97157,AAF29830,BAB15119,BAH12567,BAH13076,BAH14047,BAG36965,BAF98755,BAH14426,BAH14592,BAH14640,CAB59181,AAH17366,AAP35503,Q9UFF9,CAL38522,NP_004770,EAW61625,EAW61626,EAW61627,EAW61628,AAD02685 Hs.26703 CAF1|CALIF|POP2|hCAF1 CAF1-like protein|CAF2|CALIFp|CCR4-NOT transcription complex subunit 8|CCR4-associated factor 8|PGK promoter directed over production protein-coding 736298 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase 1580863 17215244,18482256,19508346,8392017,1322358,12379507,19348671,19165527,19034380,18676363,18496213,18289148,17964117,17306456,17150526,17081065,17010574,16891421,16389193,16343930,16103231,15713463,15502338,15489334,14702039,12947117,12643545,12477932,12452325,11842207,11156964,10646504,9268698,8921398,6328143,2995854,2835044,2164018,2161933,1385234,1360194,1315529,11993850,19913121,20628086 1267 CR614243,NM_033133,AC125257,CH471152,D13146,S46843,S46849,S50013,S50017,AK026876,AK097833,AK098048,AK098384,AK124861,AK294179,AK295351,BC001362,BC006392,BC011046,BC028040,BC045561,CB988051,CR607967,CR610695,M19650 NP_149124,EAW60785,EAW60786,EAW60787,BAA02435,BAA39694,AAB23928,AAB24298,BAG57497,BAG58318,AAH01362,AAH06392,AAH11046,AAH28040,AAA35704,P09543,ABM83501,ABM86717 Hs.273621 CNP1 2', 3' cyclic nucleotide 3' phosphohydrolase|2',3'-cyclic-nucleotide 3'-phosphodiesterase|CNPase|OTTHUMP00000164761 protein-coding 1603862 CNPY1 canopy 1 homolog (zebrafish) Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM] 16488878,14702039,12690205,12477932 285888 NM_001103176,AC008060,AC009403,CH236954,AK094445,BC105732,BC105733,BC105734,BC107598 NP_001096646,EAL23910,AAI05733,AAI05734,AAI05735,AAI07599,Q3B7I2 Hs.146751 MGC125606 OTTHUMP00000199894|protein canopy homolog 1 protein-coding 1350709 CNPY2 canopy 2 homolog (zebrafish) 1580863 16344560,12826659,10072769,19240061,15905959,15489334,12975309,12477932,17207965 10330 AA515271,DA833421,NM_001190991,NM_014255,AC073896,CH471054,AB015631,AF186113,AK312921,AY032624,AY359102,BC001027,BC065015,CR596106,CR603286,CR625337,FB746690,FB775566 NP_001177920,NP_055070,EAW96925,EAW96926,EAW96927,BAA76498,AAF01431,BAG35766,AAK38148,AAQ89460,AAH01027,AAH65015,Q9Y2B0,ADQ32561,CAT04657,CAV30740 Hs.8752 HP10390|MSAP|TMEM4|ZSIG9 MIR-interacting saposin-like protein|protein canopy homolog 2|putative secreted protein Zsig9|transmembrane protein 4 protein-coding 1319430 CNPY3 canopy 3 homolog (zebrafish) PRAT4A is associated with the immature form of TLR4 (MIM 603030) and regulates its cell surface expression (Wakabayashi et al., 2006 [PubMed 16849487]).[supplied by OMIM] 16849487,14702039,12975309,12754519,12477932,9225980 10695 AL035587,CH471081,AF161347,AK090425,AK124196,AY358960,BC004423,BC008133,BC008898,BC008961,BC011767,BC022093,CR593913,CR603815,CR605378,CR605951,CR606170,CR608091,CR614568,CR617058,NM_006586,CR620344,CR620849,CR625170,CR626260,U80744 NP_006577,CAB75301,EAX04111,EAX04112,EAX04113,EAX04114,EAX04115,EAX04116,EAX04117,EAX04118,EAX04119,EAX04120,EAX04121,EAX04122,AAF28907,BAC03406,AAQ89319,AAH04423,AAH08898,AAH08961,AAH22093,AAB91442,Q9BT09,ABZ92293 Hs.414099 CAG4A|ERDA5|PRAT4A|TNRC5 CAG repeat containing|CTG repeat protein 4a|expanded repeat domain, CAG/CTG 5|expanded repeat-domain protein CAG/CTG 5|protein associated with TLR4|protein associated with Toll-like receptor 4A|protein canopy homolog 3|trinucleotide repeat containing 5|trinucleotide repeat-containing gene 5 protein protein-coding 1606674 CNPY4 canopy 4 homolog (zebrafish) 16338228,16303743,12975309,12690205,12477932,16169070 245812 NM_152755,AC073842,CH236956,CS051459,AK075537,AY359100,BC019903,BC032339 NP_689968,EAL23850,CAI72221,BAC11680,AAQ89458,AAH19903,AAH32339,Q8N129,ABM82519,ABW03384 Hs.632293 MGC40499|PRAT4B PRotein Associated with Tlr4|protein canopy homolog 4 protein-coding 735525 CNR1 cannabinoid receptor 1 (brain) This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq] 1626329,1626325,1626328,1626326,2314629,2314630,2314631,2314632,2314633,2314640,2314658,2314664,2314675,2314678,2314680,2314672,2314674,2314676,2314634,2314649,2314645,1358448,1358449,1580863,2316199,2316217 20307616,16344560,16314880,16263116,16204352,15952782,15927811,15728830,15668727,15657045,15620723,15562018,15489334,15472222,15289816,15108190,14966476,14966196,14755457,14749627,14714115,14628192,14580383,14574404,12970790,12920192,12767117,12752773,12690115,12511587,12497582,12477932,12435806,12237474,12153574,12095632,12082570,12060783,11894096,11860478,11841893,11803524,11727770,11353438,11324942,11214319,11168387,11140838,10762343,10454705,8889548,7876112,2263478,2165569,1931832,15688035,20506110,20607655,20406692,20852034,19730968,19766594,19801960,19837905,19839995,19854014,19858202,19874574,19919870,19938110,19942623,19944766,19956878,20007426,20010552,20010914,20041802,20049372,20080186,20090845,20107430,20124735,20192949,20195480,20197196,20204253,20391958,20415562,20468064,20505532,18240029,19419760,19443135,19477951,19481011,19547718,19596672,19652957,19659925,19725030,20929960,1718258,19661434,19598235,19539700,19485422,19420965,19366584,19366059,19274719,19242408,19217452,19165169,19103987,19093002,19089403,19086053,19077438,19058789,19052543,19046818,19018721,19016476,19014633,19008645,18830626,18815063,18799087,18776593,18761332,18705688,18676872,18618671,18606956,18606954,18606950,18599552,18579347,18519829,18483286,18477688,18375449,18354002,18336811,18331587,18319252,18287809,18285348,18267983,18213623,18186055,18179391,18174385,18165231,18156315,18092149,18064064,17978319,17942526,17923791,17881126,17873324,17712725,17684478,17683024,17678969,17669634,17655760,17595161,17533584,17509535,17508995,17449448,17405839,17384224,17370106,17292652,17284627,17270342,17160086,17074588,17068343,17065342,17041005,17015679,16962033,16917946,16818376,16788767,16741937,16715087,16712507,16634642,16623851,16365309,19913121,20015515,20587580,20628086,20631561,18577758,2834384,21062041,17356572,20369362,20720046,20808855,20555313,20606244,20691427,20734064,20838400,20851297,20885390,21041608 1626329,1626325,1626328,1626326,2314629,2314630,2314631,2314632,2314633,2314640,2314658,2314664,2314675,2314678,2314680,2314672,2314674,2314676,2314634,2314649,2314645,1358448,1358449,2316199,2316217 1268 NM_016083,NM_033181,NM_001160226,NM_001160258,NM_001160259,NM_001160260,AL136096,AY011601,AY225225,CH471051,U73304,AF107262,AK313908,AY766182,AY995204,BC074811,BC074812,BC095513,BC100968,BC100969,BC100970,BC100971,BM682178,BX538191,DA128033,DA239984,DA768458,DA793373,DA799263,DQ067455,X54937,X81120,X81121,AL121835 NP_057167,NP_149421,NP_001153698,NP_001153730,NP_001153731,NP_001153732,CAB96726,CAI19916,AAG37765,AAO67710,EAW48574,EAW48575,EAW48576,AAB18200,AAD34320,BAG36631,AAV35030,AAY21179,AAH74811,AAH74812,AAH95513,AAI00969,AAI00970,AAI00971,AAI00972,AAY68486,CAA38699,CAA57018,CAA57019,P21554,Q506J9,Q9BYY6 Hs.728060,Hs.75110,Hs.709067 CANN6|CB-R|CB1|CB1A|CB1K5|CB1R|CNR OTTHUMP00000016839|cannabinoid receptor 1|central cannabinoid receptor protein-coding 732246 CNR2 cannabinoid receptor 2 (macrophage) The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq] 1580863,2316193,2316196,2316224,2316223,2316199,2316197 20307616,18240029,19328464,19477951,19505450,19547718,19596672,19730968,19768813,19858202,19931854,20041802,20090845,20124950,20133454,20468064,8679694,7556170,19565271,19496827,19480992,19442614,19397896,19071106,19058789,19053233,19027245,18991891,18799087,18636169,18614816,18599552,18483286,18419603,18334483,18286196,18221003,18092149,18068305,17923791,17678969,17660390,17613768,17390085,17334644,17327359,17223358,17189959,17074588,17068343,17015679,16624285,16563625,16547349,16513651,16503355,16406364,16204352,16139274,15927811,15845647,15765409,15728830,15472222,15456404,15266552,15039279,14966196,14764676,14657172,12799277,12711605,12663043,12511587,12477932,12417328,12153574,12095632,11727770,10051546,7689702,19757078,20607655,19913121,20628086,20369362,18577758,19931541 2316193,2316196,2316224,2316223,2316199,2316197 1269 NM_001841,AJ430064,AL590609,AY242132,CH471134,AJ430063,AM156854,AM156855,AM156856,BC069722,BC074767,BC095545,EU517121,X74328,CS613268,GM007150,GM835801,HB435988 NP_001832,CAD22549,CAI14799,AAO92299,EAW95099,EAW95100,CAD22548,CAJ42137,CAJ42138,CAJ42139,AAH69722,AAH74767,AAH95545,ACD31539,CAA52376,P34972,CAO02243,CAS97371,CAV28600,CAZ76867 Hs.73037 CB2|CX5 CB-2|cannabinoid receptor 2|hCB2|testis-dominant CNR2 isoform CB2 protein-coding 1318105 CNRIP1 cannabinoid receptor interacting protein 1 This gene encodes a G-protein coupled receptor which interacts with the C-terminal tail of cannabinoid receptor 1. This receptor plays a role in synaptic plasticity, analgesia, appetite, and neuroprotection. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 737633 17895407,16344560,15815621,15489334,12477932,16696853,20379614 737633 25927 NM_001111101,NM_015463,AC015969,CH471053,AK311784,AL110235,AY144596,BC011535,BC035125,CR591266,CR596246,CR613301,CR619915,CR620224,DA523617 NP_001104571,NP_056278,AAX93120,EAW99877,BAG34727,CAB53688,AAN41658,AAH11535,Q96F85 Hs.212885 C2orf32|CRIP1|DKFZp566K1924 CB1 cannabinoid receptor-interacting protein 1|CRIP-1|cannabinoid receptor CB1-interacting protein 1 protein-coding 1603365 CNTD1 cyclin N-terminal domain containing 1 14702039,12477932,17207965 124817 NM_173478,AC016889,CH471152,AK097456,AL833052,BC026187,AK302094 NP_775749,EAW60886,EAW60887,BAC05060,CAH56287,AAH26187,Q8N815,ADQ31735,BAG63478 Hs.12272 CNTD|FLJ40137 cyclin N-terminal domain-containing protein 1 protein-coding 1602462 CNTD2 cyclin N-terminal domain containing 2 14702039,8889548 79935 NM_024877,AC118344,CH471126,AK023327,AK301833,AI924992,BM709160,BU732215 NP_079153,EAW56939,EAW56940,BAB14529,BAG63277,Q9H8S5 Hs.631603 FLJ13265 OTTHUMP00000218303|cyclin N-terminal domain-containing protein 2 protein-coding 734034 CNTF ciliary neurotrophic factor The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of ZFP91 and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq] 1580863,1626112,1626113,1626114,1626122,734795,734797,734796,1358522 16051226,18583979,19008309,19453261,19525893,19573019,19628720,19751193,19833146,20219210,20378664,9236223,8627290,8449041,8075647,7852996,7810882,7796798,7753485,7597043,2294592,1915374,1883844,1861138,1281789,1714745,12643274,17353931,1840538,19086053,19082510,18728012,18669911,18603262,18524890,18303965,18293418,18282590,18203754,17651970,17563726,17272411,17192435,16969278,16797081,16696750,16344560,16210701,16181490,15843428,15489334,15474906,15180291,15047605,14747836,14715713,12890930,12477932,12470191,12404108,11951178,11890844,11857064,11849142,11464862,10812968,10391209,19913121,20584990,20628086,18029348,20428961 1626112,1626113,1626114,1626122,734795,734797,734796,1358522 1270 NM_000614,NG_008776,AP001350,AP003557,CH471076,X55889,X55890,X60477,X60478,X60542,AK314118,BC068030,BC069167,BC074963,BC074964,DB241497,DB341875,S72921 NP_000605,EAW73819,CAA39374,CAA43009,CAA43032,BAG36809,AAH68030,AAH69167,AAH74963,AAH74964,AAB31818,P26441 Hs.524920 HCNTF OTTHUMP00000174731|ciliary neurotrophic factor protein-coding 1344115 CNTFR ciliary neurotrophic factor receptor This gene encodes a hematopoeitin/interferon-class receptor belonging to the cytokine superfamily of receptors. The encoded gene product represents the CNTF-specific alpha subunit of a heterotrimer forming the CNTF receptor complex, which also includes LIFR and gp130. The receptor is attached to the membrane by a glycosyl-phosphatidylinositol linkage and contains an immunoglobulin-like C2-type domain and a fibronectin type-III domain. Signal transduction requires that CNTF bind first to this alpha component, which permits the recruitment of gp130 and LIFR beta to form the tripartite receptor complex. Signal transduction stimulates gene expression, cell survival or differentiation in a variety of neuronal cell types. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq] 1580863 7585948,12707266,12643274,1648265,19086053,18307269,18203754,17436251,17272411,16782820,16189514,15489334,15272019,12807897,12477932,11943154,11464862,11294841,11285233,10966616,10812968,8627290,8244400,7810882,7774913,17474147,19204726,19386761,19453261,20219210,20237496,20379614 1271 AK127444,BC001492,BI545014,BT019824,CR610538,CR615036,CR615362,CR621924,CR624688,M73238,NM_001842,NM_147164,AL160270,CH471071,L38020,L38021,L38022,L38023,L38024,L38025 BAG54504,AAH01492,AAV38627,AAA35707,P26992,Q5T8H6,Q5U050,ABM86381,ABW03790,NP_001833,NP_671693,CAI13159,CAI13160,EAW58445,EAW58446,EAW58447,EAW58448,AAA91337 Hs.129966 MGC1774 CNTF receptor subunit alpha|CNTFR alpha|CNTFR-alpha|OTTHUMP00000021272|ciliary neurotrophic factor receptor alpha|ciliary neurotrophic factor receptor subunit alpha protein-coding 1317678 CNTLN centlein, centrosomal protein 18086554,16344560,15164053,14702039,19913121,20628086,19648919,20379614 54875 NM_017738,NM_001114395,AL133214,AL162725,AL354711,AL354738,AL590377,CH471071,AA492222,AA828123,AK000283,AK021596,AK098502,AK303973,AK308837,AW136479,AW590957,BG575335,BU075047,BU162362,BX647069,CR623494,DB280003 NP_060208,NP_001107867,EAW58664,BAA91052,BAB13850,BAC05319,BAG64894,Q9NXG0,AAI56252,CAH70743 Hs.435381 C9orf101|C9orf39|FLJ20276|FLJ25636|RP11-340N12.1|bA340N12.1 centlein|centrosomal protein|chromosome 9 open reading frame 39 protein-coding 732231 CNTN1 contactin 1 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 631992,734798,1580863 20379614,7959734,19086053,19026398,18464913,16510572,16335952,16078236,15489334,15146195,14761957,14676309,14592966,14567914,12700241,12477932,12139915,11567041,11556889,10595523,10103110,9651216,9584610,9335257,9081628,9049255,8586965,8164510,7628014,7595520,1838307 631992,734798 1272 NM_175038,NG_012058,AC015540,AC016144,AC024900,AC074030,AC129108,CH471111,AK289544,AK289698,BC036569,CR601551,U07819,U07820,Z21488,NM_001843 NP_001834,NP_778203,EAW57822,EAW57823,EAW57824,BAF82233,BAF82387,AAH36569,AAA67920,AAA67921,CAA79696,Q12860 Hs.143434 F3|GP135 contactin-1|glycoprotein gP135|neural cell surface protein F3 protein-coding 734311 CNTN2 contactin 2 (axonal) The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. It may also be involved in glial tumorigenesis and may provide a potential target for therapeutic intervention. [provided by RefSeq] 631992,734799,1580863 12963709,16767081,17891179,17942533,17986383,19776380,16424386,20029029,9032250,8663515,8586965,8586412,8344273,8307567,8242070,3272160,1838307,1720120,11264182,14697242,9837910,8425542,19451620,19416878,19086053,17822827,17766378,16710414,16335952,15340161,14991578,14702039,12975355,12477932,12139915,11280781,10830169,9403076,15146197,16865259 631992,734799 6900 X68274,CR749495,NM_005076,AL583832,CH471067,X84419,X84420,X92681,AB074271,AK124736,AK289985,AK309108,BC036477,BC129986,X67734,CN289415 CAA48335,Q02246,Q68DA2,CAH18318,CAA47963,NP_005067,CAI15288,EAW91533,EAW91534,CAA59137,CAA63365,BAG54084,BAF82674,AAI29987 Hs.519220 AXT|DKFZp781D102|FLJ37193|FLJ42746|MGC157722|TAG-1|TAX|TAX1 TAX-1|axonal glycoprotein TAG-1|axonin-1 cell adhesion molecule|contactin 2|contactin 2 (transiently expressed)|contactin-2|transient axonal glycoprotein 1|transiently-expressed axonal glycoprotein protein-coding 732842 CNTN3 contactin 3 (plasmacytoma associated) 631992,1580863 12477932,20379614,18272596,19497516,19086053,16641997,16335952,14702039,11013081,10819331,8661054,8586965,8108413,20360857 631992 5067 NM_020872,AC016950,AC024222,AC128653,AC128656,CH471055,AB040929,AK001157,AL512746,BC150608,BX951442,DR002512 NP_065923,EAW65535,BAA96020,CAC21671,AAI50609,Q9P232 Hs.12723 BIG-1|KIAA1496|PANG|PCS brain-derived immunoglobulin superfamily protein 1|contactin-3|plasmacytoma-associated neuronal glycoprotein protein-coding 1349263 CNTN4 contactin 4 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 631992,1580863 18349135,17915252,17903302,17030759,16335952,15489334,14702039,12477932,12202991,9221934,16344560,17036314,18837054,20101686,21116278,18272596,15106122,14571131,19913121,20628086,15198677,19451621,19509545,19578179,19736351,20201926,21079607 631992 152330 DA063654,DA796385,R42166,NM_175607,NM_175613,NM_175612,AC018842,AC022002,AC022008,AC024057,AC026882,AC066608,AC087094,AC087427,CH471055,AF464063,AF549455,AI022097,AK057278,AK095729,AK097633,AK125460,AK314396,AY090737,BC013797,BC026119,NG_012827 NP_783200,NP_783302,NP_783301,EAW63873,EAW63874,EAW63875,EAW63876,EAW63877,EAW63878,AAN86141,AAP05786,BAG51896,BAG53116,BAG53498,BAG37020,AAM00025,AAH26119,Q8IWV2 Hs.626418,Hs.298705 AXCAM|BIG-2|CNTN4A|MGC33615 OTTHUMP00000147566|OTTHUMP00000147567|OTTHUMP00000209582|axonal-associated cell adhesion molecule|brain-derived immunoglobulin superfamily protein 2|contactin-4|neural cell adhesion protein BIG-2 protein-coding 734326 CNTN5 contactin 5 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 20558387,20800603,18272596,19086053,17903304,17903297,12477932,11069942,11013081,1838307,20379614,20398908,20889312,19913121,20628086 53942 NM_014361,NM_175566,AP000760,AP000798,AP000923,AP001892,AP001988,AP002378,AP002428,AP002987,AP003126,AP003441,AP003558,AP004249,CH471065,AB013802,AB013803,AK294692,BC130619,AK308788,BC039255,BC144185,BC144186 NP_055176,NP_780775,EAW66992,EAW66993,BAA36579,BAA36580,BAG57851,AAH39255,AAI30620,AAI44186,AAI44187,O94779,Q49AF3 Hs.656783 HNB-2s|MGC163491|NB-2 contactin-5|neural adhesion molecule|neural recognition molecule NB-2 protein-coding 733383 CNTN6 contactin 6 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. [provided by RefSeq] 1580863 20339536,9486763,19086053,15489334,14592966,12477932,1838307,21079607,19509545,20379614,20398908 27255 AK294786,AK307814,AK314220,BC036338,BC113118,NM_014461,AB003592,AC027123,AC034192,CH471055 BAA82612,BAG57911,AAI13119,Q9UQ52,NP_055276,EAW63871,EAW63872 Hs.387300 MGC133256|NB3 contactin-6|hNB-3|neural adhesion molecule|neural recognition molecule NB-3 protein-coding 734159 CNTNAP1 contactin associated protein 1 The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq] 70689,1580863 8889548,9535855,9118959,19372141,19086053,14592966,12477932,11839274,11496158,9407060,17474147,19423540,20406964,20438785 70689 8506 NM_003632,AC100793,CH471152,BC171797,BU729460,U87223 NP_003623,EAW60867,EAW60868,EAW60869,AAB48481,P78357,AAI60132 Hs.408730 CASPR|CNTNAP|NRXN4|P190 caspr1|contactin-associated protein 1|neurexin 4|neurexin IV|neurexin-4 protein-coding 1352756 CNTNAP2 contactin associated protein-like 2 This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness. [provided by RefSeq] 1580863 12093160,10048485,19913121,20421335,20628086,20808326,10624965,11352571,19166515,19086053,18987363,18512134,18496130,18179894,18179893,17903296,17646849,17392702,16571880,15489334,15203218,14702039,12975355,12853948,12809671,12690205,12542678,12477932,12421765,12963709,18179895,18957941,19546859,19582487,19706678,19889080,19896112,20157312,20176116,20200978,20379614,20414140,20446882,20502679,20889312,20711234 26047 NG_007092,AACC02000041,AC004856,AC004891,AC004896,AC005378,AC005518,AC005997,AC006004,AC006016,AC006315,AC006456,AC006992,AC007027,AC073112,AC073273,AC073276,AC073308,AC073418,AC073428,AC073644,AC074115,AC079405,AC083849,AC084872,AC092676,AC093172,AF318292,AF318293,NM_014141,AF318297,AF318298,CH471146,CS321220,AB020675,AB073883,AF319045,AK000960,AK294098,AK296532,AK315113,BC093780,BC113373,CD625182,CD625192,CR613191,CR933671 NP_054860,EAL24417,AAC36298,AAC71656,AAD50520,AAP21888,AAP21890,AAS00355,AAP21885,AAP22358,AAS07480,AAS02006,AAP22353,AAS07543,AAS07427,AAS07562,AAS07479,AAK49902,AAK49901,AAK49903,EAW80082,EAW80083,EAW80084,CAK96045,BAA74891,AAK34932,BAH11672,BAH12379,BAG37571,AAK49904,AAI13374,AAH93780,CAI45967,O75852,Q75LG9,Q75M92,Q75MA1,Q75MD4,Q75MF8,Q75MQ9,Q86UI8,Q86UJ1,Q86UL4,Q86UL6,Q86UL9,Q96T77,Q96T80,Q9UDS9,Q9UDV4,Q9UHC6 Hs.655684 AUTS15|CASPR2|CDFE|DKFZp781D1846|NRXN4|PTHSL1 cell recognition molecule Caspr2|contactin-associated protein 2|contactin-associated protein-like 2|homolog of Drosophila neurexin IV protein-coding 1348176 CNTNAP3 contactin associated protein-like 3 The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq] 1580863 12093160,16344560,14702039,12477932,11214970 79937 AL162501,AL353729,CH878599,AB051501,AF333769,AK056833,AK294281,AU130948,AW242597,BC132737,BC144130,CR614145,NM_033655 Q9BZ76,Q96MJ5,NP_387504,CAH70485,CAH70488,CAH70490,CAH72037,CAH72039,CAH72042,EAW50585,BAB21805,AAG52889,BAB71293,BAG57566,AAI32738,CAH70489,CAH72041 Hs.521495,Hs.604441,Hs.658328 CASPR3|CNTNAP3A|RP11-138L21.1|RP11-290L7.1 OTTHUMP00000021405|cell recognition molecule Caspr3|contactin-associated protein-like 3 protein-coding 1604153 CNTNAP3B contactin associated protein-like 3B 14702039,15164053,15820314 728577 BX649569,AC025861,NM_001201380,BX664735,CR788268,BX538190,XM_003119167,XM_003119168 CAI12626,CAI12627,CAI12628,CAI16324,CAI16325,CAI16326,CAI94998,CAI95046,CAI95047,CAI95048,CAI95050,CAI95321,NP_001188309,Q96NU0,CAD98060,Q7Z321,XP_003119215,XP_003119216 Hs.521495 DKFZp686I15204 OTTHUMP00000064574|cell recognition molecule Caspr3b|contactin associated protein-like 3B|contactin-associated protein-like 3B protein-coding 1315089 CNTNAP4 contactin associated protein-like 4 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 18398821,17213182,16344560,14702039,12477932,12421765,12093160,11214970,7757816,19844255,20379614 85445 NM_138994,AC010528,AC106741,CH471114,AB051550,AB100092,AB100093,AB100094,AF463518,AI352097,AK054786,AK057327,BC017266,BM544789,CR616666,DA319383,DB050637,DT217898,Z44514,NM_033401 NP_207837,NP_620481,EAW95610,EAW95611,BAB21854,BAC55270,BAC55271,BAC55272,AAL68839,BAB71429,Q54A24,Q86YZ7,Q86YZ8,Q8WX98,Q96M80,Q9C0A0,AAI41551 Hs.461389 CASPR4|KIAA1763 OTTHUMP00000211851|OTTHUMP00000211853|cell recognition molecule Caspr4|cell recognition protein CASPR4|contactin-associated protein-like 4 protein-coding 1313519 CNTNAP5 contactin associated protein-like 5 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq] 1580863 17903302,16845472,14702039,19721433,20346443,20379614,20451256,20339536 129684 AK056528,AC010901,AC019105,AC019159,AC074362,AC079154,AC092158,AC097715,AC104648,AC105762,CH471103,AB077881,NM_130773 BAB83897,BAB71205,Q8WYK1,AAI48398,NP_570129,AAY14716,AAX88894,AAX81997,AAY15042,AAY24250,AAX88904,EAW95266,EAW95267,EAW95268,EAW95269 Hs.660653 FLJ31966|caspr5 OTTHUMP00000203755|cell recognition molecule Caspr5|contactin-associated protein-like 5 protein-coding 1603924 CNTROB centrobin, centrosomal BRCA2 interacting protein CNTROB is a centrosomal protein that interacts with BRCA2 (MIM 600185) and is required for centriole duplication and cytokinesis (Zou et al., 2005 [PubMed 16275750]).[supplied by OMIM] 11984006,16275750,17535851,16713569,15498874,15489334,14702039,12477932,18029348,20085806,20190801,20508983,20511645 116840 NM_053051,AC104581,CH471108,NM_001037144,AF141344,AF331638,AK074847,AK293076,AK303093,AL137669,AL833907,AY160226,AY160227,BC014055,BC021134,CR601905 NP_001032221,NP_444279,EAW90104,EAW90105,EAW90106,EAW90107,EAW90108,AAG49447,AAL56068,BAC11241,BAF85765,BAG64203,CAH10698,CAD38763,AAO22135,AAO22136,AAH14055,AAH21134,Q8N137,ABM82964,ABM86155 Hs.348012 LIP8|PP1221 LYST-interacting protein 8|LYST-interacting protein LIP8|centrobin|centrosomal BRCA2 interacting protein|centrosomal BRCA2-interacting protein protein-coding 1354088 COASY Coenzyme A synthase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. COASY is a bifunctional enzyme that catalyzes the 2 last steps in CoA synthesis. These activities are performed by 2 separate enzymes, phosphopantetheine adenylyltransferase (PPAT; EC 2.7.7.3) and dephospho-CoA kinase (DPCK; EC 2.7.1.24), in prokaryotes (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM] 1642057,1580863 11994049,19482007,18820009,16460672,16344560,16341674,16189514,15589845,15489334,15302935,14702039,14514684,12477932,11980892,11923312,9373149,8529999,8125298,19692168 1642057 80347 NM_001042530,NM_001042532,NM_001042529,NM_001042531,AC067852,CH471152,AF208536,AF453478,AK075415,AK092498,AK225485,AK297153,AK303766,AK314076,AL360167,AL360168,AL583142,AL833588,AY094602,BC006354,BC020985,BC067254,BM473635,BM781531,BT007168,CR608823,NM_025233,DA786254,U18919,DA131866 NP_079509,NP_001035995,NP_001035997,NP_001035994,NP_001035996,EAW60838,EAW60839,EAW60840,AAF87955,AAL50813,BAG59652,BAG64732,BAG36775,AAM19996,AAH06354,AAH20985,AAH67254,AAP35832,AAA69699,Q13057 Hs.296422 DPCK|FLJ35179|NBP|PPAT|UKR1|pOV-2 Coenzyme A synthase|bifunctional coenzyme A synthase|bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase|nucleotide binding protein|phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase protein-coding 1323755 COBL cordon-bleu homolog (mouse) 15345747,19430480,20379614,20936779,19240061,19058789,16344560,15489334,14512015,12477932,9734811,7586755 23242 NM_015198,AC004414,AC005535,AC012372,CH236955,CH471128,AB014533,AK293883,AK308718,AK309254,AL713786,BC029275,BC045771,BC094695,BC111496,BC144099,BC150263,CR605312,CR936689,DA245843,BC136441 NP_056013,EAL23896,EAW60962,EAW60963,BAA31608,BAG57272,CAD28543,AAH29275,AAH45771,AAH94695,AAI11497,AAI36442,AAI44100,AAI50264,O75128,Q8TCM1 Hs.99141 DKFZp686G13227|KIAA0633|MGC131893 OTTHUMP00000209049|OTTHUMP00000209050|protein cordon-bleu protein-coding 1319028 COBLL1 COBL-like 1 8125298,16964243,15815621,15489334,14702039,14512015,12477932,10231032,9373149,20936779,20339536,19401544,20379614,20468071 22837 NM_014900,AC019181,CH471058,AB023194,AK001813,AK002054,AK002057,AK075181,AK225849,AL049939,AL832824,BC006264,BC071588,BX537877,BX648994,BX649112,CB989062,CR590777,CR619113,AK294937 NP_055715,AAX93068,EAX11338,EAX11339,EAX11340,EAX11341,BAA76821,BAG50979,BAG51007,CAB43215,AAH06264,AAH71588,CAD97877,Q53SF7,BAH11931 Hs.470457 COBLR1|KIAA0977 OTTHUMP00000082583|cordon-bleu protein-like 1 protein-coding 1603677 COBRA1 cofactor of BRCA1 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM] 11739404,14667819,17474147,11256614,12676794,18071589,17910036,17659869,17499042,17442680,16964243,16452188,16381901,16344560,15530430,15489336,15489334,15342491,15302935,15185750,14702039,12612062,12477932,11230166,11112772,11076863,10574461,10199401,16838299,17353931 25920 NM_015456,BX255925,CH471090,AB033008,AF464935,AK022651,AK091056,AL050280,BC011892,BC019029,DA210427 NP_056271,CAM24149,EAW88377,EAW88378,BAA86496,AAL69965,BAB14157,BAG52272,CAB43381,AAH11892,Q8WX92,CAL38167 Hs.655043 DKFZp586B0519|KIAA1182|NELF-B|NELFB|RP13-122B23.3 negative elongation factor B|negative elongation factor protein B protein-coding 1318365 COCH coagulation factor C homolog, cochlin (Limulus polyphemus) The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq] 1580863,1600878 9806553,19161137,19098315,19013156,18312449,17926100,17561763,17368553,17264471,17138532,16951386,16835921,15579465,14718574,14512963,14501450,12975309,12928864,12843317,12477932,11709536,11574466,11568667,11295836,10400989,9931344,9441737,8817345,8417734,7829101,1910721,20105107,21046548,20447147,19657184,19933177,20228067,20237496 1600878 1690 NM_001135058,NM_004086,NG_008211,AL049830,AY916789,CH471078,AF006740,AK123362,AK130273,AK292724,AW629100,AY358900,BC000640,BC007230,BC018827,CR611655,CR614743 NP_001128530,NP_004077,AAW82432,EAW65963,EAW65964,EAW65965,AAC39545,BAG53895,BAC85316,BAF85413,AAQ89259,AAH07230,O43405,Q6ZP09,Q96IU6 Hs.21016 COCH-5B2|COCH5B2|DFNA9 cochlin protein-coding 1352630 COD2 cone dystrophy 2 (X-linked) 9199568 1275 1312123 COG1 component of oligomeric golgi complex 1 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq] 1580863 15047703,11980916,19008299,16857184,16020545,15489334,14702039,12477932,11929878,10718198,9927668 9382 NM_018714,NG_008971,AC097641,CH471099,AB037802,AK025633,AK098224,AL359611,BC021985,BC047465,BI667005,CR603633 NP_061184,EAW89113,EAW89114,BAA92619,BAG53597,CAB94881,AAH21985,AAH47465,Q4G0L8,Q8WTW3,ABM87028 Hs.283109 CDG2G|DKFZp762L1710|KIAA1381|LDLB COG complex subunit 1|conserved oligomeric Golgi complex protein 1|conserved oligomeric Golgi complex subunit 1|low density lipoprotein receptor defect B complementing protein-coding 1312615 COG2 component of oligomeric golgi complex 2 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants. 1580863 15047703,7962052,19105203,19023099,17975119,17274799,16406524,15489334,12477932,11980916,11929878,7750094 22796 NM_007357,NM_001145036,AL158214,CH471098,AK295251,AK302288,AK302791,AK312678,AL832190,BC014960,BC051906,CD366946,CR625249,DB449302,DC349417,S77362,Z34975 NP_031383,NP_001138508,CAI15358,CAI15359,EAW69915,EAW69916,BAH12018,BAH13668,BAH13805,BAG35559,AAH14960,AAH51906,CAA84427,Q14746,Q86U99,ABM83170,ABM86371,ABW03786 Hs.211800 LDLC COG complex subunit 2|brefeldin A-sensitive, peripheral Golgi protein|conserved oligomeric Golgi complex protein 2|conserved oligomeric Golgi complex subunit 2|low density lipoprotein receptor defect C complementing|low density lipoprotein receptor defect C-complementing protein protein-coding 1312059 COG3 component of oligomeric golgi complex 3 The protein encoded by this gene has similarity to a yeast protein. It seems to be part of a peripheral membrane protein complex localized on cis/medial Golgi cisternae where it may participate in tethering intra-Golgi transport vesicles. [provided by RefSeq] 1580863 11929878,16420527,11980916,11292827,15047703,15489334,12665801,12477932,10562277,10512869,9373149,9110174,8619474,8125298,15057823,19536132 83548 NM_031431,AL139326,AL606514,CH471075,AF111707,AF131829,AF332595,AF349676,AK026305,AK026994,AK074374,AK225466,AK225952,AK294959,AK304248,AK314387,BC038953,BX648211,CR609778 NP_113619,CAH72888,EAX08741,EAX08742,EAX08743,AAM12423,AAK06848,AAK66974,BAG58033,BAG65115,BAG37012,AAH38953,Q8TE06,Q96JB2 Hs.507948 SEC34 COG complex subunit 3|conserved oligomeric Golgi complex subunit 3|p94|tethering factor SEC34|vesicle-docking protein SEC34 homolog protein-coding 1321515 COG4 component of oligomeric golgi complex 4 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG4 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1580863 15047703,16344560,15489334,15342556,14759258,14702039,12477932,11980916,11929878,11703943,20936779,19494034,19536132,19651599 25839 AK026435,AK096557,AK293235,AK297557,AL050101,AU125729,BC000796,BC006306,BC013347,BC027726,BC072438,BC128144,BC128145,BP282697,BX648010,CR590176,CR601969,NM_015386,AC106804,CH471241,AB088369,AK022874,NG_027529,NM_001195139 BAB15483,BAC04816,BAG56773,BAG59950,CAB43272,AAH00796,AAH06306,AAH13347,AAH27726,AAH72438,AAI28145,AAI28146,Q6PIW8,Q8N8L9,Q9H9E3,NP_056201,EAW51806,EAW51807,EAW51808,EAW51809,EAW51810,EAW51811,EAW51812,EAW51813,BAC05682,BAB14286,NP_001182068 Hs.208680 CDG2J|COD1|DKFZp586E1519 COG complex subunit 4|complexed with Dor1p|conserved oligomeric Golgi complex protein 4|conserved oligomeric Golgi complex subunit 4 protein-coding 1319696 COG5 component of oligomeric golgi complex 5 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG5 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1580863 15047703,9792665,11980916,18353293,17356545,16344560,16051600,16020545,14702039,12853948,12477932,11929878,10782044,20804914,20112360,18029348,21068099,20936779,19690088 10466 BI597200,CR620007,DB165152,NG_028095,NM_006348,NM_001161520,AC002381,AC004492,AC004855,CH236947,CH471070,AF058718,AK022835,AK123726,AK126275,AK314270,AU117533,BC068540,NM_181733,BF979561,BI545441 Q9UP83,NP_859422,NP_006339,NP_001154992,AAB63816,AAC83406,EAL24392,EAL24393,EAW83395,EAW83396,EAW83397,AAC69276,BAG51122,AAH68540,ADR82754 Hs.97627,Hs.239631 CDG2I|FLJ41732|FLJ44289|GOLTC1|GTC90 13S Golgi transport complex 90 kDa subunit|13S golgi transport complex 1 90 kDa subunit|COG complex subunit 5|GTC-90|OTTHUMP00000212361|conserved oligomeric Golgi complex protein 5|conserved oligomeric Golgi complex subunit 5|golgi transport complex 1 protein-coding 1346233 COG6 component of oligomeric golgi complex 6 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. 1580863 15047703,18369459,17331980,17220172,16051600,16020545,12477932,11980916,11929878,11703943,10574461,8889548 57511 NR_026745,NM_020751,AL512505,AL596306,CH471075,AB032960,AF116827,AK026638,AK294443,AK310953,BC027469,NM_001145079,BC051723,BU675177,CR627406,DC317375 NP_001138551,NP_065802,CAI16936,CAI16937,CAM23735,CAH72240,EAX08618,EAX08619,EAX08620,BAA86448,AAD29633,BAG57684,AAH51723,CAH10495,Q9Y2V7 Hs.507805 COD2|DKFZp313D191|KIAA1134 COG complex subunit 6|OTTHUMP00000018297|OTTHUMP00000018299|complexed with Dor1p 2|conserved oligomeric Golgi complex protein 6|conserved oligomeric Golgi complex subunit 6 protein-coding 1349178 COG7 component of oligomeric golgi complex 7 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG7 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1580863,1600879 15047703,15107842,16420527,16510524,11980916,17356545,16051600,15489334,15342556,14702039,12975309,12477932,11929878,9110174,8619474,19536132,19577670 1600879 91949 AF070568,AK093989,AK130714,AY358632,BC000549,BC037563,NM_153603,AC008915,CH471145,BP308365,DB444997,NG_021287,R54036 EAW55832,BAG52793,BAC85411,AAQ88995,AAH00549,AAH37563,NP_705831,EAW55830,EAW55831,P83436,Q6ZNT4 Hs.185807 CDG2E COG complex subunit 7|conserved oligomeric Golgi complex subunit 7 protein-coding 1316049 COG8 component of oligomeric golgi complex 8 This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq] 1580863 15047703,11703943,18353293,17331980,17220172,15489334,14702039,12477932,11980916,11929878,11181995,11149922,9373149,8125298 84342 NM_032382,NG_009013,AC026464,CH471092,AK025968,AK056344,AK225391,AK302605,BC017492,BC063831,BC121022,BC121023,CR591305,CR606206,CR611458,CR612803,CR624165,DC374379 NP_115758,EAW83266,EAW83267,EAW83269,BAB15301,BAB71157,BAG63854,AAH17492,AAI21023,AAI21024,Q96MW5 Hs.130849 CDG2H|DOR1|FLJ22315 COG complex subunit 8|conserved oligomeric Golgi complex subunit 8|conserved oligomeric golgi complex component 8|dependent on RIC1 protein-coding 735624 COIL coilin The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq] 1580863 20546612,16687569,17577209,18439907,19435804,19997741,12757932,7971277,18677100,18391951,18322647,17461797,17088425,17081983,16964243,16713569,16565220,16219678,16079131,15862129,15635413,15489334,15302935,12679382,12482916,12477932,12361597,11792806,11790298,11641277,11302690,11102515,10751146,9679133,9644758,9513048,9013710,7860074,7829101,7679389,7490287,2033369,20449600,20875822 8161 NM_004645,AC004584,CH471109,AK313616,AW021880,BC010385,CR594693,CR605137,CR610327,CR611341,M58411,U06632 NP_004636,EAW94522,BAG36378,AAH10385,AAA36412,AAB81550,P38432,ABM83853,ABM87175 Hs.532795 CLN80|p80-coilin coilin|coilin p80|p80 protein-coding 1344926 COILP1 coilin pseudogene 1 317784 NG_002476,AL157791 COILP coilin pseudogene pseudo 1605760 COILP2 coilin pseudogene 2 494447 NG_004786,AC109357 COILP-2 pseudo 735281 COL10A1 collagen, type X, alpha 1 This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq] 1600880,1580863 1397333,20872587,8554571,19180518,19116917,18553549,17335825,17072841,17009260,16806867,16598786,15880705,15695517,15464363,14574404,12554676,12477932,11839302,11805116,11115494,10991694,10436013,9852679,9837818,9525992,9101290,9067753,9049979,8986632,8782043,8304336,8220429,8012364,8004099,7876225,7749409,7607655,2037056,1764025,1743401,1587271,1397263,20073986,18759285,20225218 1600880 1300 NM_000493,NG_008032,AL121963,CH471051,M74050,S73619,X58879,X60382,X65120,X72578,X72579,X72580,X98568,BC130621,BC130623,BI521533,CA447328,S68531 NP_000484,CAB87590,CAI19529,CAI19530,EAW48240,AAA61221,AAB31113,CAA41686,CAA42933,CAA46236,CAA51170,CAA67178,AAI30622,AAI30624,AAC60615,Q03692,Q5QPC7,Q5QPC8 Hs.520339 OTTHUMP00000017049|OTTHUMP00000017050|OTTHUMP00000017051|Schmid metaphyseal chondrodysplasia|collagen X, alpha-1 polypeptide|collagen alpha-1(X) chain|collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)|procollagen, type x, alpha 1 protein-coding 735396 COL11A1 collagen, type XI, alpha 1 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1600881,1580863 3182841,10486316,10889003,8872475,10573014,19337631,19180518,18280717,18203646,18040076,17999364,17236192,17016581,16344560,15922184,15286167,12805369,12673280,12477932,11780999,11709013,11707154,9659900,8388073,1690726,7721876,7560887,3220479,2591970,18464913,19306436,19351187,19723327,19949890,20083228,20301479,20416094,20433912,20513134,21035103,7814404,19913121,20628086,20634891,20672350 1600881 1301 NM_080630,NM_080629,NM_001854,NG_008033,AC093150,AC099567,AF017809,AF101112,AL627203,AY705366,AY705367,AY705368,AY705369,AY705370,AY744914,AY870934,AY870935,AY870936,AY870937,AY870938,AY870939,AY870940,AY870941,AY870942,CH471097,DQ097164,L38956,U12139,AB208844,AK299025,AU118365,BC117697,BU159588,BX476821,J04177,CA448616,NM_001190709 NP_542197,NP_542196,NP_001845,AAF04724,AAF04725,AAF04726,CAH73908,AAW47652,AAW47653,AAW47654,AAW47655,AAW47656,AAU88421,AAW65382,AAW65383,AAW65384,AAW65385,AAW65386,AAW65387,AAW65388,AAW65389,AAW65390,EAW72908,EAW72909,EAW72910,EAW72911,EAW72912,EAW72913,AAZ06348,AAA79171,AAN86608,BAD92081,BAG61102,AAI17698,AAA51891,P12107,Q149N0,Q4FAC4,Q59HB5,Q5IKE6,Q5IKE9,Q5XNW0,NP_001177638 Hs.523446 CO11A1|COLL6|STL2 OTTHUMP00000218241|collagen XI, alpha-1 polypeptide|collagen alpha-1(XI) chain|procollagen, type xi, alpha 1 protein-coding 1350403 COL11A2 collagen, type XI, alpha 2 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Three transcript variants encoding different isoforms have been identified for this gene. A pseudogene is located nearby on chromosome 6. [provided by RefSeq] 1580863,1600883 19913121,20618517,20628086,20634891,20672350,18193043,19615732,19851445,7859284,8838804,10677296,9188673,16033917,19204726,19180518,18830248,18469698,18381781,18309376,18040076,17471097,16734381,16609882,16133074,15922184,15558753,14574404,12673280,12554743,12477932,11780999,11341341,11289713,10581026,9805126,9585596,9506662,9106521,9101290,8663204,8325374,7836472,7721876,7560887,7559422,2760050,2591970 1600883 1302 BX248309,CR354565,NM_001163771,NM_080679,NM_080681,NM_080680,NG_011589,AL031228,AL645940,AL662824,AL844527,AL845446,CH471081,CR759733,CR936877,U32169,U41065,U41067,U41068,U41069,AK130938,BC053886,J04974,L18987 NP_001157243,NP_542410,NP_542412,NP_542411,CAA20240,CAI95623,CAI95624,CAI18063,CAI17611,CAI41834,CAI95551,EAX03676,EAX03677,EAX03678,CAQ10294,CAQ09060,AAC50213,AAC50214,AAC50215,AAC17464,AAC17465,BAC85467,AAH53886,AAA52034,AAA35498,P13942,Q5STP6,Q6LCP7,Q6ZNN4,Q7Z6C3 Hs.390171 DFNA13|DFNB53|HKE5|PARP|STL3 collagen alpha-2(XI) chain|pro-a2 chain of collagen type XI protein-coding 1343549 COL11A2P collagen, type XI, alpha 2 pseudogene 394214 AL662824,AL845446,BX120009,CR759795,CR759904,CR847849,CT009497,NG_007926,AL645931 cD0826Q1.1 pseudo 735743 COL12A1 collagen, type XII, alpha 1 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 16344560,16284948,15609093,15342556,14702039,12890494,12477932,12045897,11697796,10066359,9826181,9344363,9143499,9129225,8207089,2668306,17960519,1427837,3476925,19648885,20453000 1303 AJ420501,AK057081,AK307558,BC034715,BC050587,BC146868,BP286308,DA661773,U68139,U73778,U73779,NM_004370,AF061871,AL080250,AL096771,AL354664,CH471051,S48374,S48383,AI752603,NM_080645 AAH50587,AAI46869,AAC01506,AAC51244,AAD40483,Q5TF09,Q86TG9,Q99715,NP_542376,NP_004361,AAC83578,CAI19896,CAI19898,CAI19906,CAI19908,CAM28080,CAM28081,CAH71310,EAW48748,EAW48749,EAW48750,AAB23937 Hs.101302 BA209D8.1|COL12A1L|DJ234P15.1 OTTHUMP00000219428|OTTHUMP00000219466|collagen alpha-1(XII) chain|collagen type XII proteoglycan|collagen, type XII, alpha 1-like|procollagen, type xii, alpha 1 protein-coding 1607090 COL13A1 collagen, type XIII, alpha 1 This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq] 20708005,11956183,10865988,2459707,9624150,16368877,15146197,12832406,10713152,10429945,8246446,3547403,2767682,1894651,1698771,1447210,1447209,12477932,16341674,16385451,19851296,20198315 1305 NM_080802,NM_080801,NM_080800,NM_080798,NM_080805,NM_001130103,AC024601,AC025426,AF071009,AL138925,CH471083,M20795,M20796,M20797,M20798,M20799,M20800,M20801,M20802,M20803,M20804,M20805,M69008,AI741175,AJ293624,AK124476,BC136385,BC139913,BM744248,BY796799,CN297094,M15524,M33653,M59217 NP_542992,NP_542991,NP_542990,NP_542988,NP_542995,NP_001123575,AAD48082,CAI15450,CAI15451,CAI15452,EAW54333,EAW54334,EAW54335,EAW54336,EAW54337,EAW54338,EAW54339,EAW54340,EAW54341,EAW54342,EAW54343,EAW54344,EAW54345,EAW54346,EAW54347,EAW54348,EAW54349,EAW54350,EAW54351,EAW54352,EAW54353,EAW54354,EAW54355,EAW54356,EAW54357,EAW54358,EAW54359,EAW54360,EAW54361,EAW54362,EAW54363,EAW54364,EAW54365,EAW54366,EAW54367,EAW54369,EAW54370,AAA51987,AAA51988,AAA51989,AAA51990,AAA51991,AAA52754,CAC00688,AAI36386,EAW54368,AAA52048,AAA52047,AAA51685,Q5TAT6,Q9UP45 Hs.695934 COLXIIIA1|FLJ42485 OTTHUMP00000019732|OTTHUMP00000019733|collagen alpha-1(XIII) chain protein-coding 1314064 COL14A1 collagen, type XIV, alpha 1 1580863 1716629,19136672,2187872,9427527,17960519,16421571,16129687,15609093,15489334,15146197,15065570,14702039,12477932,10646805,10393435,9252349,9092299,8986622,8756762,8135774,7842743,20379614 7373 BQ717750,AC020603,AC090736,AC107877,CH471060,AK021997,AK293080,AK307716,AK311498,BC014640,BC036192,BC083495,BC140893,NM_021110,BX472674,CN261527,CR614438,M64108,M64109,Y11709,Y11710,Y11711 NP_066933,EAW91998,EAW91999,EAW92000,EAW92001,EAW92002,BAF85769,AAH14640,AAH36192,AAH83495,AAI40894,AAA36794,AAA36795,CAA72401,CAA72402,CAA72403,Q05707,Q4G0W3 Hs.409662 UND collagen alpha-1(XIV) chain|collagen, type xiv, alpha 1 (undulin)|undulin (fibronectin-tenascin-related) protein-coding 1321941 COL15A1 collagen, type XV, alpha 1 This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq] 1580863 9651385,19365806,18203317,18171981,17355226,15164053,14702039,11937714,11068203,10891348,10791950,10049780,9176399,8929352,8307960,8106446,1427836,1279671,19834535 1306 NM_001855,AF261108,AL136084,AL354923,CH471105,L25280,L25281,L25282,L25283,L25284,L25285,AK095885,AK308438,CR595376,CR602416,D21230,DB452324,L01697,L25286 NP_001846,CAI17044,CAI12548,EAW58899,EAW58900,EAW58901,EAW58902,EAW58903,EAW58904,AAC78500,BAG53159,BAA04762,AAA58429,P39059,AAI57095 Hs.409034 FLJ38566 collagen XV, alpha-1 polypeptide|collagen alpha-1(XV) chain|collagen type XV proteoglycan protein-coding 1322191 COL16A1 collagen, type XVI, alpha 1 This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq] 1580863 19913121,20628086,19931388,16754661,15165854,1284248,16710414,12782140,12477932,9022684,7882999,7836360,1631157,18804107 1307 NM_001856,AC114488,CH471059,AB209571,AF370368,BC064839,CR611324,M92642,R54778,S57132,X14963,X15038 NP_001847,EAX07595,EAX07596,EAX07597,BAD92808,AAQ15204,AAA58427,AAB25797,CAA33085,CAA33142,Q07092,AAI67814 Hs.368921 447AA|FP1572 alpha 1 type XVI collagen|collagen XVI, alpha-1 polypeptide|collagen alpha-1(XVI) chain protein-coding 1322425 COL17A1 collagen, type XVII, alpha 1 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq] 1600884 18992722,18571472,18055190,17920818,17657247,17555727,17545155,17443672,16899459,16580182,16487966,16417243,16387484,16354180,16117787,15734283,15609083,15489334,15164054,15161638,15081423,15047704,15009107,14987253,14962097,14962091,14562173,12482924,12477932,12421765,12356719,11912005,11739652,11514543,10951237,10756096,10671979,10652291,10637308,10577906,10321838,10022517,9740252,9665393,9660880,9521878,9500991,9457913,9204958,9199555,9087447,9038345,8669466,8662839,7916703,7550320,2045679,1748679,1324962,19340010,19812601,19834535,19945617,20089696,20379614,10811835,12802069,14668477,16385451,16757171,9012408,19422829,19158842,20471095 1600884 1308 NG_007069,AL138761,CH471066,U76564,U76565,U76566,U76567,U76568,U76569,U76570,U76571,U76572,U76573,U76574,U76575,U76576,U76577,U76578,U76579,U76580,U76581,U76582,U76583,U76584,U76585,U76586,U76587,U76588,U76589,U76590,U76591,NM_000494,U76592,U76593,U76604,AF136185,AF136186,AK309940,AU076442,BC004478,M63730,M91669 CAM13376,NP_000485,CAC00589,CAI12397,CAI12398,EAW49612,EAW49613,EAW49614,AAB51499,AAH04478,AAA51839,AAA35605,Q5JV37,Q9UMD9,AAI68368 Hs.117938 BA16H23.2|BP180|BPAG2|FLJ60881|KIAA0204|LAD-1 180 kDa bullous pemphigoid antigen 2|alpha 1 type XVII collagen|bA16H23.2 (collagen, type XVII, alpha 1 (BP180))|bullous pemphigoid antigen 2 (180kD)|collagen XVII, alpha-1 polypeptide|collagen alpha-1(XVII) chain protein-coding 736032 COL18A1 collagen, type XVIII, alpha 1 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1600910,1600887,1600901,1600885,1600906,632362,70690,1580863 19615205,20396759,20819778,20562859,20616167,9008168,10942434,19622587,19431146,19390655,19127216,19084038,19074676,18818971,18676680,18478248,18382662,18381814,18360823,18345385,18054814,18029348,18006826,17653045,17587451,17546652,17544408,17526870,17482599,17067672,17011029,16998835,16866623,16807676,16793908,16466644,16358965,16320826,16025479,15985216,15950618,15735323,15694132,15662127,15605080,15540202,15489334,15464359,15374730,15334690,15328173,15296943,15148373,15146197,15014038,14973128,14760864,14732364,14702039,14695535,14614989,14519482,14514474,12857600,12839947,12693719,12682293,12581742,12486154,12479859,12477932,12458056,12415512,12408231,12237301,12231538,12209593,12174873,12029087,12023034,11937714,11911017,11815623,11781696,11700031,11606364,11517600,11336704,11158588,10830953,10716919,10544250,9724722,9503365,8776601,8188291,8183893,16008891,19160445,19170196,19223770,19542224,19585274,19625176,19631658,19692168,19877579,19961619,20027339,20063989,20156196,20346360,20361288 1600910,1600887,1600901,1600885,1600906,632362,70690 80781 NM_130444,NM_030582,NG_011903,AL163302,AY484971,BX322561,BX322562,BX322563,CH471079,AF018081,AF018082,AF184060,AF333246,AF333247,AF416592,AK098216,AK130835,BC033715,BC063833,NM_130445,CN389577,CR622901,L22548 NP_569712,NP_569711,NP_085059,CAB90482,AAR83296,AAR83297,AAR83298,EAX09338,EAX09339,EAX09340,EAX09341,EAX09342,EAX09343,EAX09344,AAC39658,AAC39659,AAF01310,AAK50626,AAL37720,AAH33715,AAH63833,AAA51864,P39060,Q8NG19 Hs.517356 FLJ27325|FLJ34914|KNO|KNO1|MGC74745 antiangiogenic agent|collagen alpha-1(XVIII) chain|endostatin|multi-functional protein MFP protein-coding 1318965 COL19A1 collagen, type XIX, alpha 1 This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq] 1580863 20339536,20379614,1639419,7775380,9143499,18845531,15489334,15383545,14574404,12788917,12477932,9344653,9202028,8889548,8034603,7916703 1310 M63597,U09279,NM_001858,AB004629,AL118519,AL133388,AL136445,AL160262,AL359539,CH471051,D38466,U09280,AK310621,BC070177,BC113362,BC113364,CF144008,D38163,L12347 AAA58468,AAA36358,AAA21146,Q13708,Q13709,Q14993,Q5JVU1,NP_001849,BAA23309,CAB99331,CAI42496,CAI42497,CAI42498,CAC12699,CAI42716,CAI42319,CAI42322,CAI16492,EAW48828,EAW48829,EAW48830,BAA07488,BAA07489,AAA21147,AAI13363,AAI13365,BAA07368 Hs.444842 COL9A1L|D6S228E OTTHUMP00000016696|a1 chain of type XIX collagen|collagen XIX, alpha-1 polypeptide|collagen alpha 1 (Y) chain|collagen alpha-1(XIX) chain|collagen alpha-1(Y) chain 1643257 BW136_H protein-coding 734049 COL1A1 collagen, type I, alpha 1 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] 1601595,2292195,734802,734801,734803,1580863 19913121,20087402,20435445,20571774,20628086,20673868,20721936,20730440,20736093,20798928,15781005,15728585,15638371,15592793,15581348,15570400,15552843,15514891,15514164,15489334,15466008,15365990,15256976,15241796,15241219,15227656,15211650,15133851,15106082,15085313,15081423,15049048,14734826,14722584,14672895,14643521,14633859,14613485,14595528,14562991,14528100,14506618,12879219,12868700,12810179,12803121,12787275,12753258,12735930,12660034,12590186,12584032,12575457,12491092,12477932,12393937,12358155,12232678,12211646,12200454,12185380,12180907,12164934,12149247,12138160,12127408,12107666,12101112,12099690,12096841,12073153,12072442,12069607,12034705,12034531,12016466,12016463,11973338,17211858,8900172,15095409,14976317,18375391,18553566,17489845,17118335,17557158,17576241,1715582,1939645,3872140,9295288,10778855,9028946,9280292,19527514,19506792,19465003,19453261,19429913,19387081,19358256,19341834,19306436,19299182,19260140,19259350,19255718,19206162,19193665,19193663,19180518,19172220,19145934,19143970,19110771,19082910,19071236,19019335,19016596,18996919,18925325,18836165,18818748,18787532,18704262,18703872,18694864,11907712,11874231,11867580,11856343,11847210,11792589,11731270,11716195,11685422,11683425,11668615,11566920,11547832,11547828,11508783,11432962,11420783,11383910,11368514,11359786,11316004,11311202,11303720,11283002,11230734,11204438,11173011,11143996,11136533,11122085,11090261,11085801,10772928,10739762,10627137,10446987,10408781,9878537,9733643,9675033,9659899,9639571,9600458,9443882,9239397,9169408,9143923,9101304,9101290,9016532,8988177,8841196,8786074,8723681,8669434,8552450,8468356,8456809,8456808,8364588,8349698,8349697,8339541,8223589,8100209,8097422,8094076,8019571,7982948,7961597,7945553,7881420,7852349,7691343,7679635,7520724,7499207,7034958,6689127,6462220,6320112,6292910,6183642,5529814,4319110,3857621,3857213,3722186,3667599,3571333,3490481,3480516,3403550,3340531,3264153,3244312,3178743,18681778,18670065,18669982,18669583,18644377,18634290,18619040,18580957,18551240,18550494,18536987,18412368,18401458,18379465,18361931,18353721,18323784,18311573,18306915,18298657,18226133,18089612,18069662,18028452,18024269,17991736,17950782,17903305,17889845,17876648,17875077,17766609,17698844,17554369,17551768,17392686,17332715,17331078,17303000,17276428,17273809,17252541,17201588,17187960,17179726,17140440,17135298,17100549,17028262,17021946,17019952,16988190,16934803,16911569,16869454,16864092,16835341,16831952,16815299,16804049,16723701,16713399,16705691,16622736,16580273,16540720,16521042,16498072,16475872,16458627,16410344,16407265,16278217,16272059,16263577,16173077,16171977,16159929,16102727,16009674,16001263,15994869,15966503,15965952,15952128,15950180,15880349,15805113,15794927,15788405,3170557,3108247,3082886,3016737,2981843,2913053,2857713,2843432,2822714,2794057,2777764,2767050,2745420,2511192,2470760,2468670,2374517,2339700,2318855,2295701,2211725,2169412,2156854,2116413,2037280,2036375,2035536,2010058,1995349,1988452,1953667,1939261,1895312,1874719,1870989,1787829,1770532,1737847,1730778,1718984,1693626,1634225,1613761,1511982,1468447,1460047,1409674,1377218,1339453,1303238,2745554,2446864,11752017,20133221,20140262,20181574,20489157,20961463,21033393,20651840,20704113,14749390,15101818,17460886,18682895,18709850,19418583,19491628,19558215,19635106,19655227,19675556,19714363,19718407,19734317,19751715,19789904,19813243,19890351,19893454,19913496,19929435,19932771,20015871,20061935,20063990,20146006,20146870,20237151,20301472,20369485,20379614,20444423,20452482,20509788,20532479,20191437,21095332,20543003,20406730,19595020,20045402,20463013 1601595,2292195,734802,734801,734803 1277 NM_000088,NG_007400,AC015909,AF017178,CH471109,J02829,J03559,K03179,L47667,M10627,M11162,M20789,M23213,M55998,S58915,X00299,X00820,AB209597,AK297731,BC036531,J00110,J00111,J00112,J00113,K01228,M32798,M36546,S64596,X06269,X07884,Z74615 ABM84497,ABW03370,NP_000079,AAB94054,EAW94630,EAW94631,AAA51993,AAA52052,AAA51847,AAB59576,AAA51992,AAA75386,AAB59373,AAB59363,AAA52036,AAB26324,CAA25082,CAA25394,BAD92834,BAH12658,AAH36531,AAA52289,AAA52290,AAA52291,AAN86574,AAA51995,AAA52049,AAA60150,AAB27856,CAA29605,CAA30731,CAA98968,P02452,Q14042,Q6LAN8,Q9UMA6 Hs.172928,Hs.681002 OI4 alpha-1 type I collagen|collagen alpha 1 chain type I|collagen alpha-1(I) chain|collagen of skin, tendon and bone, alpha-1 chain|pro-alpha-1 collagen type 1 protein-coding 730984 COL1A2 collagen, type I, alpha 2 This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] 1581196,1581197,1581198,1581199,704405,704404,734805,734804,1580863 20087402,20628086,20673868,20721936,20736093,19913121,15862967,16289162,16463783,19289304,19395477,19491193,19565505,19578796,19679847,19705750,19714363,19790048,19929435,19932771,20102701,20452482,20466318,8900172,8982144,17211858,18375391,17217948,1740554,17334644,8841196,17955022,6267597,1715582,1939645,3872140,9295288,10778855,9028946,9280292,19559927,19527514,19426706,19424577,19282863,19208385,19180518,19035720,19015742,18996919,18818748,18791848,18664619,18644377,18570923,18434090,18323784,18298657,18284430,18093617,17903307,17884818,17875077,17653508,17620151,17407139,17146610,17142024,17072841,16864092,16849317,16816023,16705691,16702209,16564026,16316921,16285730,16278217,16192463,16091368,16036621,15983038,15982862,15917161,15818662,15788405,15741186,15609325,15599596,15581348,15516691,15514164,15489334,15389632,15365990,15345715,15241796,15211650,15149860,15085313,15077201,14739420,14555266,12968017,12879219,12813128,12759229,12702564,12477932,12424255,12393755,12200454,12160476,12101112,12034705,11986307,11867580,11836364,11668615,11359786,11311202,11143996,10772928,10734230,10722718,10627137,10408781,10329688,9878537,9675033,9443882,7852349,7749416,7720740,7693712,7688497,7520724,7346227,7034958,6687691,6501291,6321602,6309769,6092353,6087329,5529814,4412529,4011429,3857213,3680255,3490481,3421913,3403536,3372533,7881420,7860070,2914942,2897363,2839839,2824475,2777764,2454224,2394758,2375748,2364107,2156854,2129528,2064612,2052622,9239397,9101290,9016532,8889548,8829655,8829649,8800927,8723681,8552450,8468356,8456808,8456807,8444468,8401517,8182080,8125298,8094076,8081394,7959683,7945553,7906591,7891382,2010058,1284475,1990009,1895312,1874719,1730778,1711048,1693626,1642148,1577745,1468447,1409674,1385413,1377218,1362870,1358799,1339453,1303238,19594296,20837772,20463013,9373149,17459242,20140262,20961463,21044367 1581196,1581197,1581198,1581199,734805,734804 1278 X55525,Y00724,Z74616,NM_000089,NG_007405,AB004317,AC002074,AC002528,AF004877,CH236949,CH471091,K01078,K02568,M21353,M21671,M22817,M28985,M35391,M64229,S98904,AA457209,AK223175,AK226074,AK297786,AK300194,AK309504,AL833478,BC042586,BC054498,CF125721,J00114,J03464,L47668,M22816,S41099,S96821,V00503,X02488 CAA26320,CAA39142,CAA68709,CAA98969,P08123,Q14036,Q75N18,Q7KZ71,NP_000080,BAA25383,AAS02025,AAB69977,AAB93981,EAW76794,EAW76795,EAW76796,AAA51887,AAA51850,AAA52053,AAA59994,AAA51846,AAA60356,AAA60041,AAA52050,AAB22126,BAG60128,BAG61967,AAH42586,AAH54498,AAA51996,AAB59374,AAB59577,AAA51844,AAB22761,AAB22020,CAA23761 Hs.489142 OI4 alpha 2(I)-collagen|alpha-2 type I collagen|collagen I, alpha-2 polypeptide|collagen alpha-2(I) chain|collagen of skin, tendon and bone, alpha-2 chain|type I procollagen protein-coding 1346873 COL1AR collagen, type I, alpha, receptor 2840666 1279 1602872 COL20A1 collagen, type XX, alpha 1 16189514,15489334,12477932,11780052,10819331 57642 NM_020882,AL121827,CH471077,AB040943,AK098702,AL390141,BC013658,BC019637,BC041767,BC043183 NP_065933,CAI95065,CAI95066,EAW75285,EAW75286,EAW75287,EAW75288,EAW75289,BAA96034,BAC05387,AAH13658,AAH19637,AAH43183,Q8N7B2,Q9P218,CAX12646,CAX12647 Hs.271285 KIAA1510|bA261N11.4 OTTHUMP00000031549|collagen alpha-1(XX) chain|collagen-like protein protein-coding 1347782 COL21A1 collagen, type XXI, alpha 1 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XXI collagen is localized to tissues containing type I collagen so, like other members of this collagen family, it may serve to maintain the integrity of the extracellular matrix. An alternatively spliced transcript variant has been described, but its full-length nature has yet to be determined. [provided by RefSeq] 1580863 15342556,12477932,11863369,11827793,11566190,11230166,14702039,20379614 81578 AF330693,AF370383,AF414088,AK096444,AK126586,AK313398,AL136624,BC045597,BC126108,BC143862,BC143863,BC143864,BC143865,BP231679,NM_030820,AF438327,AL031782,AL034452,AL513530,CH471081 EAX04452,AAL50033,AAQ15219,AAL02227,BAG53292,BAG36196,CAB66559,AAH45597,AAI26109,AAI43866,Q96P44,NP_110447,AAL86699,CAI22496,CAI22497,CAI22395,CAI22396,CAH73912,CAH73913,EAX04448,EAX04449,EAX04450,EAX04451,ACJ66843 Hs.47629 COLA1L|DKFZp564B052|FLJ39125|FLJ44623|FP633|MGC26619|dJ682J15.1|dJ708F5.1 OTTHUMP00000016652|alpha 1 chain-like collagen|alpha 1 type XXI collagen|collagen alpha-1(XXI) chain protein-coding 1319222 COL22A1 collagen, type XXII, alpha 1 COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM] 1580863 12477932,15016833,20222955,20379614 169044 NM_152888,AC068476,AC105130,AC115720,AP006262,CH471060,AA781676,AF406780,BC042075,BC144535,BX094632,XM_003120087 NP_690848,EAW92193,EAW92194,EAW92195,AAN03620,AAH42075,AAI44536,AAI72420,XP_003120135 Hs.117169,Hs.727752 collagen alpha-1(XXII) chain-like|collagen, type XXII, alpha 1 protein-coding 1353219 COL23A1 collagen, type XXIII, alpha 1 COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM] 1299589,1580863 15231747,17627939,16728390,15489334,12644459,12477932,19724895,19851296,20198315,20379614,20447926 1299589 91522 NM_173465,AC008659,AC022096,AC093290,AC136601,CH471165,AL137461,AW014891,AY158895,AY898961,BC042428 NP_775736,EAW53833,EAW53834,CAB70749,AAO18361,AAX84028,AAH42428,Q86Y22 Hs.660026 DKFZp434K0621 collagen alpha-1(XXIII) chain|procollagen, type XXIII, alpha 1 protein-coding 1349074 COL24A1 collagen, type XXIV, alpha 1 16373341,12874293,12477932,20379614,19913121,20628086 255631 NM_152890,AC099561,AC104455,AL356059,AL359971,AL445427,CH471097,AB209686,AK308953,AY244357,BC113654,BC116180,BC117170,BC143715,BC143717,BC143718 NP_690850,CAH71121,CAI16233,CAI19120,EAW73193,BAD92923,AAP80185,AAI13655,AAI17171,Q17RW2 Hs.659516 MGC142214 collagen alpha-1(XXIV) chain protein-coding 1603375 COL25A1 collagen, type XXV, alpha 1 COL25A1 is a brain-specific membrane-bound collagen. Proteolytic processing releases CLAC, a soluble form of COL25A1 containing the extracellular collagen domains that associates with senile plaques in Alzheimer disease (AD; MIM 104300) brains (Osada et al., 2005 [PubMed 15615705]).[supplied by OMIM] 11927537,15215182,15522881,15615705,18501477,16300410,15853808,14656069,12477932,19548013,20332099,20379614 84570 NM_198721,NM_032518,AC004051,AC004701,AC073427,AC095066,AC097473,CH471057,AF293340,AF293341,BC030649,BC036669 NP_942014,NP_115907,AAY40947,EAX06238,EAX06239,EAX06240,AAK35008,AAK35009,AAH36669,Q4W5I4,Q8NE08,Q9BXS0 Hs.658842 CLAC|CLACP AMY|CLAC-P|OTTHUMP00000196081|OTTHUMP00000196082|OTTHUMP00000196083|alzheimer disease amyloid-associated protein|collagen alpha-1(XXV) chain|collagen-like Alzheimer amyloid plaque component|collagenous Alzheimer amyloid plaque component protein-coding 1350673 COL27A1 collagen, type XXVII, alpha 1 Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. They form major structural elements in extracellular matrices of cartilage, skin, and tendon (Boot-Handford et al., 2003 [PubMed 12766169]).[supplied by OMIM] 18978678,18391951,15922909,14702039,12766169,12714037,12477932,11347906,20379614 85301 NM_032888,AL356796,AL445543,CH471090,AB058773,AK021957,AY149237,BC007696,BC035728 NP_116277,CAI16857,CAI14772,CAI14773,EAW87411,EAW87412,EAW87413,EAW87414,BAB47499,BAB13947,AAN41263,Q8IZC6,Q9HAA3 Hs.494892 FLJ11895|KIAA1870|MGC11337|RP11-82I1.1 collagen alpha-1(XXVII) chain protein-coding 1604476 COL28A1 collagen, type XXVIII, alpha 1 COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 193400) type A (VWA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM] 16330543,12690205,12477932,20379614,19913121,20628086 340267 NM_001037763,AC004982,AC006356,AC009402,CH236948,AJ890451,AJ890452,AJ890453,BC063866,BC136892,BC144431 NP_001032852,EAL24305,EAL24307,CAI67595,CAI67596,CAI67597,AAI36893,Q2UY09 Hs.491104 COL28 alpha 2 type VI collagen-like|collagen alpha-1(XXVIII) chain protein-coding 1601707 COL29A1 collagen, type XXIX, alpha 1 COL29A1 belongs to the class of collagens containing von Willebrand factor (VWF; 193400) type A (vWA) domains. These collagens form filaments with globular domains containing vWA motifs, which are involved in protein-ligand interactions for the organization of tissue architecture and cell adhesion (Soderhall et al., 2007).[supplied by OMIM] 18839421,19961619,20379614,18400749,18276594,17850181,14702039,20649719,20882040 256076 NG_021424,NR_022012,NM_153264,AC093004,AC117398,CH471052,AK093199,AK123718,AM906078,AM906079,AM906080,AM906081,AM906082,AM906083,AM906084,EU085556 NP_694996,EAW79224,BAC04092,BAC85681,CAP19997,CAP19998,CAP19999,CAP20000,CAP20001,CAP20002,CAP20003,ABW81241,A8TX70 Hs.205403 COL29A1|COL6A5|FLJ35880|VWA4 collagen alpha-5(VI) chain|collagen, type XXIX, alpha 1|von Willebrand factor A domain-containing protein 4 protein-coding 734037 COL2A1 collagen, type II, alpha 1 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq] 704404,704421 19913121,20628086,20634891,20672350,20179744,17217840,9066888,9061001,8948452,8863156,8778019,8737653,8723098,8723097,8723096,8609233,8529631,8507190,8486375,8423604,8406454,8325895,8317498,8244341,8024616,8019561,7981752,7977371,7874117,7847372,7829510,7757086,7757081,7699294,7520045,7487609,6320112,3997552,3857598,3840017,3800925,3571333,3021582,3011107,3004202,3002437,2987845,2825137,2803268,2753125,2745554,2714801,2572591,2543071,2446864,2355003,2339128,2300123,2229073,2081599,2059554,2010058,1999183,1985108,1975693,1971141,15101818,15713743,19433093,19473573,19756630,19764028,19790048,19814628,20131279,8660302,2587267,8900172,7550321,1429602,16752401,10486316,19430638,19387081,19180518,19019890,18978274,18799084,18655132,18636947,18553548,18523590,18512791,18383211,18288556,18276201,18177466,18065760,18040638,18023161,17994563,17721977,17683641,17653045,17580305,17568421,17509551,17437277,17394019,17335825,17195216,17163530,17009260,16978902,16877351,16650379,16395149,16329077,16192646,16133074,16088915,16076844,16001263,15930420,15922184,15895462,15731776,15671297,15643621,15522781,15489334,15466413,15316962,15179599,15102076,15082485,15054848,14729840,14644246,14299791,12939326,12935820,12732631,12713737,12637574,12544472,12511349,12477932,12429250,12429249,12393877,12360016,12223098,12205109,12200454,12186868,12096843,12011698,11973338,11847210,11812423,11746045,11724554,11716775,11708863,11705992,11447232,11445564,11406351,11368302,11292829,11007540,10982970,10797431,10772239,10745044,10729292,10706362,10678662,10406661,10382266,10196235,10085302,9811967,9800905,9711874,9685393,9659900,9468540,9409248,9354468,9334230,9101290,1905723,1677770,1637314,1621990,1556676,1544908,1444917,1439770,1397263,1374906,12847218,11121411,20529846,20592578,21088911 704421 1280 NM_001844,NG_008072,AC004801,CH471111,CS025620,J00116,L10347,M23759,M25698,M25728,M25730,M27468,M37126,M60299,NM_033150,S76829,U15195,X00339,X02371,X02375,X02376,X02377,X02378,X03320,X16158,X57010,X58709,AL834148,BC007252,BC116449,BT007205,CR603203,M63281,X06268,X13783,X16468,X16711 NP_149162,NP_001835,EAW57966,EAW57967,EAW57968,EAW57969,EAW57970,CAI61687,AAA51997,AAC41772,AAD15286,AAA52051,AAD15287,AAA58428,AAA52039,AAA52037,AAA73873,AAD14239,AAB60370,CAA25092,CAA26223,CAA26224,CAA26225,CAA26226,CAA26227,CAA27041,CAA34278,CAA34279,CAA34280,CAA34281,CAA34282,CAA34283,CAA34284,CAA40330,CAI46208,AAH07252,AAI16450,AAP35869,AAA52038,CAA29604,CAA32030,CAA34488,CAA34683,P02458,Q16299,Q16561,Q5JPA6 Hs.408182 ANFH|AOM|COL11A3|MGC131516|SEDC alpha-1 type II collagen|cartilage collagen|chondrocalcin|collagen II, alpha-1 polypeptide|collagen alpha-1(II) chain protein-coding 737225 COL3A1 collagen, type III, alpha 1 This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] 1300381,1300382,1580863 19913121,20628086,20673868,15101818,19389097,19398000,19424605,19444361,19527514,19578796,19639654,19764567,19790048,19858036,19893454,19932771,20063990,20452482,7487954,9036918,9573018,14970208,8900172,2839553,16754721,16912226,2981879,7546986,6295694,1672129,9076960,16360482,14736764,1466622,17576241,19398442,19180518,19152942,19056482,19019335,19000145,18818748,18805790,18722615,18642782,18521510,18401458,18389341,18089612,17396208,17146610,16838047,16681691,16521042,16356540,16289162,16259598,16088212,16043429,15944607,15894390,15838180,15815621,15514164,15489334,15365990,15342556,15227656,15193836,14702039,14633859,12880417,12786757,12694234,12631068,12477932,12358155,12149201,12140670,12105202,11973338,11827452,11577371,11168790,10923041,10819545,10706896,10051163,9659900,9659899,9284930,9147870,9101290,9050868,8990011,8884076,8680408,8664902,8514866,8411057,8320698,8317500,8255472,8098182,8019562,7912131,7833919,7749417,7016180,6246925,6096827,3858826,3754462,3571333,3405773,3357782,3211760,2834369,2808425,2780304,2777083,2764886,2745554,2579949,2492273,2446864,2365710,2349939,2235526,2145268,1979060,1939638,1895316,1757960,1496983,1409674,1370809,1357232,1352273,687591,557335,20631730,20704113,11566270,11311202,20140262 1300381,1300382 1281 NG_007404,AC066694,AY016295,AY054301,CH471058,M10795,M10797,M10798,M10799,M26939,M59312,S62925,AI755052,AK091853,AK308010,BC028178,BP374999,CR608693,CR613119,NM_000090,M11134,M13146,M59227,S79877,X01655,X01742,X06700,X07240,X14420,X15332 NP_000081,AAY24164,AAL13167,EAX10909,EAX10910,EAX10911,AAA52002,AAA51999,AAA52000,AAA52001,AAA52040,AAA52041,AAD13937,AAH28178,AAA52004,AAA52003,AAB59383,AAB35615,CAA25821,CAA25878,CAA25879,CAA29886,CAA30229,CAA32583,CAA33387,P02461,Q6LBY7 Hs.443625,Hs.708235 EDS4A|FLJ34534 Ehlers-Danlos syndrome type IV, autosomal dominant|alpha1 (III) collagen|collagen alpha-1(III) chain|collagen, fetal protein-coding 1316170 COL4A1 collagen, type IV, alpha 1 This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq] 1581204,1581205,2311342,2311340,2311341,1580863 19913121,20506163,20628086,20673868,16481288,16374828,16151532,16107487,15905400,15583824,15489334,15467744,15146197,15081423,15057823,12574156,12524166,12477932,12180907,12011424,11994000,11970952,11867580,11776869,11711546,10811134,10416788,10382266,9878537,9673377,9506531,9409248,9334230,9169408,9136074,8995276,8889548,8662978,8317999,8006028,7827955,7500359,6988303,6811420,6434307,6389236,6386565,4043082,3997552,3714485,3691802,3311751,3182844,2987919,2891465,2846280,2844531,2701944,2582422,2581969,2506015,2426947,2211625,2186699,1724753,1377218,14718574,19194877,18775695,18669583,18560403,18160688,18077766,18061419,18050191,17938367,17696175,17216253,16631378,16598045,20166936,20558831,12878203,14732718,19422682,19477666,19506372,19840616,19851296,19893454,19948975,19949034,20031579,20067797,20083228,20198315,20379614,20385946,20452482,8900172,7495302,3571333,2446864,9733643,12847218,12812986,15203218,20818663 1581204,1581205,2311342,2311340,2311341 1282 NM_001845,NG_011544,AL161773,AL390755,CH471085,J04217,M26576,M36963,X12784,AB209646,AF258349,AF363672,AF400431,AF536207,AY285780,BC047305,BC142626,BC151220,BU677787,CD613007,CN256264,CR593711,DQ464183,EU260121,M10940,M10941,M11315,X03963,X05561,Y00706 NP_001836,CAH71365,CAH74130,EAX09108,EAX09109,AAA53098,CAA31276,BAD92883,AAF72630,AAK53382,AAK92480,AAM97359,AAP43112,AAH47305,AAI42627,AAI51221,ABE73157,ABX47006,AAA52006,AAA52042,CAA29075,CAA68698,P02462,Q14051,Q59F15 Hs.17441 arresten COL4A1 NC1 domain|OTTHUMP00000194462|collagen IV, alpha-1 polypeptide|collagen alpha-1(IV) chain|collagen of basement membrane, alpha-1 chain protein-coding 1317652 COL4A2 collagen, type IV, alpha 2 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq] 1580863 19913121,20628086,20673868,12878203,19481338,20067797,20080650,20201926,20452482,8317999,10625665,2846280,3345760,18706356,18050191,17557121,17554254,17216253,16368877,15743801,15522229,15489334,15231748,15146197,15057823,12477932,12180907,12021518,12011424,11867580,11711546,11683410,11259413,10926178,10416788,10382266,9878537,9673377,9506531,9409248,9334230,9136074,8995276,8006028,7827955,7500359,6988303,6811420,6389236,3997552,3692475,3582677,3198637,3182844,3089234,3025878,2844531,2439508,2426947,2211625,1724753,1377218,7495302,20889312,20805453,16712791 1284 NM_001846,AL139385,AL159153,AL161773,CH471085,J04217,M36963,X12784,AF258350,AF400430,AK025912,AK294920,AY450357,AY455978,BC016166,BC035559,BC080644,BX648393,BY795218,CB045156,CB148713,CK000715,CN397790,CN397808,CN397819,CR590491,J02760,M24766,X05562,X05610 NP_001837,CAI17005,CAH72050,CAM15930,CAH71366,EAX09111,EAX09112,AAA53097,AAA53099,CAA31275,AAF72631,AAK92479,BAG58004,AAR20245,AAR18250,AAH80644,AAA58422,AAA52043,CAA29076,CAA29098,P08572 Hs.508716 DKFZp686I14213|FLJ22259 canstatin|collagen alpha-2(IV) chain protein-coding 736518 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C-terminal domain. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand. [provided by RefSeq] 1600924,1600928,1580863 20664914,20673868,11337467,12107413,12878203,19357112,19786737,20029656,20201926,20237496,20452482,8889548,20177710,12682293,10766752,10212244,10837460,7987396,18941198,18930919,18772132,18661361,18499662,18439107,18436078,18385178,17942953,17726307,17426256,17396119,17294221,17216251,16953426,16940319,16895672,16877525,16235097,15954103,15880327,15815621,15492988,15280517,15199166,14871398,14633133,14507670,12768082,12225806,12193605,12180907,12028435,11961012,11867580,11711546,11683410,11134255,10416788,10382266,9878537,9673377,9537506,9506531,9409248,9278443,9136074,8995276,8505332,8294492,8083201,8016138,8006044,8006028,7987301,7827955,7758473,7500359,6988303,6811420,6389236,3997552,3089234,3025878,2426947,1882840,1737849,1724753,1400291,1377218,7495302,14676276,19688274 1600924,1600928 1285 AU099354,BM670570,BM712932,CD675393,NM_000091,NG_011591,AB008496,AC079235,AC097662,AC107069,AF218541,AJ288487,AJ288534,AJ288535,AJ288536,AJ288537,AJ288538,CH471063,L08650,AF258351,EU268882,M81379,M92993,S55790,U02519,U02520,X80031 NP_000082,BAA25064,AAY14671,AAY24251,AAX93111,AAF63713,CAC36101,EAW70848,EAW70849,EAW70850,EAW70851,EAW70852,EAW70853,EAW70854,EAW70855,EAW70856,EAW70857,AAA52044,AAF72632,ABX71213,AAA51556,AAA21610,AAB19637,AAA18942,AAA18943,CAA56335,Q01955,Q548X1,AAI56139 Hs.570065 collagen IV, alpha-3 polypeptide|collagen alpha-3(IV) chain|tumstatin protein-coding 1319300 COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18165232,17916599,17591919,17442665,17081983,16970251,16895911,16571669,16338941,16218959,16189514,15976441,15917228,15596449,15489334,14702039,14685229,12477932,10027952,19005213,19197348,19494524,19615732,20036255,20177069,10212244,11007769,18772132,18411267,18216317,18184806 10087 AC008897,NM_031361,NM_005713,NM_001130105,AB036934,AB036936,AC112183,AC116341,AF232935,CH471084,CQ855842,CQ855844,AF136450,AF232930,AK000604,AK091851,AK096854,AK292087,AY453385,AY453386,BC000102 NP_112729,NP_005704,NP_001123577,BAB58974,BAB58977,AAG42051,EAW95757,EAW95758,EAW95759,EAW95760,EAW95761,CAH23431,CAH23432,AAD30288,AAG42046,BAC03762,BAG53379,BAF84776,AAR26717,AAR26718,AAH00102,Q9Y5P4 Hs.270437 CERT|CERTL|FLJ20597|GPBP|STARD11 Goodpasture antigen-binding protein|OTTHUMP00000222113|START domain containing 11|START domain-containing protein 11|StAR-related lipid transfer (START) domain containing 11|ceramide transfer protein|ceramide transporter|collagen type IV alpha-3-binding protein|hCERT|lipid-transfer protein CERTL|stAR-related lipid transfer protein 11 protein-coding 1313332 COL4A4 collagen, type IV, alpha 4 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq] 1580863 20664914,20673868,12477932,12878203,19129241,19357112,19675380,20029656,20237496,20379614,20452482,8253711,2211832,7523402,19109975,18930919,18661361,17942953,17396119,17216251,16970251,16953426,16895672,16338941,16235097,15954103,15880327,15280517,14507670,12768082,12631110,12325029,12225806,12180907,12028435,11867580,11711546,11683410,10416788,10382266,9878537,9792860,9673377,9537506,9506531,9409248,9195222,9136074,8995276,8787673,8365481,8006028,7987396,7962065,7827955,7500359,6988303,6811420,6389236,3997552,3089234,2426947,2318822,1724753,1639407,1429714,7495302 1286 NM_000092,NG_011592,AB008496,AC073149,AC079235,AF218541,CH471063,L01475,L01476,Y17397,AA831056,BC065843,BX094848,D17391,X81053 NP_000083,BAA25065,AAY24061,AAY14670,EAW70845,EAW70846,EAW70847,CAA76763,BAA04214,CAA56943,P53420 Hs.591645 CA44 Collagen IV, alpha-4 polypeptide|collagen alpha-4(IV) chain|collagen of basement membrane, alpha-4 chain protein-coding 1351504 COL4A5 collagen, type IV, alpha 5 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene. [provided by RefSeq] 1600687,1580863 19913121,20628086,20673868,11462238,11223851,11961405,11711546,11198602,11051113,11004279,10862091,10684360,10563487,10561141,10416788,10382266,10094548,9878537,9673377,9506531,9452056,9195222,9150741,9136074,8940267,8829632,8651296,8651292,8406498,8356449,8301933,8120014,8081393,8006028,7853788,7599631,7500359,6988303,6811420,6389236,6386565,3997552,2426947,2380186,2339699,2004755,1724753,1689491,1672282,1377218,1376965,1363780,1352287,7495302,12878203,16169070,19610672,19728970,19919694,19965530,20378821,20452482,12021518,2349482,19281745,19065523,18930919,18706356,18616531,18083113,17554254,17396119,17294221,17277342,16941480,16940319,16613845,16507901,16284948,15954103,15780079,15583824,15365990,15211113,15149316,14993485,14592452,14531812,14514738,12796257,12732331,12478350,12477932,12218303,12180907,12105244,20574986 1600687 1287 NM_000495,NG_011977,AF199451,AF199452,AL031622,AL034369,AL035425,AL136364,CH471120,NM_033380,S71779,S75903,U04470,U04520,Z37153,AK294066,AK307900,BC035387,BC151846,CR618621,M31115,M58526,M90464,S59334,S69168,M63473 NP_203699,NP_000486,AAF66217,CAI43038,CAA22267,CAB90289,EAX02683,EAX02684,EAX02685,EAX02686,AAB31853,AAB33374,AAC27816,CAA85512,BAG57411,AAH35387,AAI51847,AAA52045,AAA99480,AAA52046,AAD13909,AAC60612,AAA51558,P29400,Q49AM6 Hs.369089 ASLN|ATS|CA54|MGC167109|MGC42377 OTTHUMP00000217927|collagen IV, alpha-5 polypeptide|collagen alpha-5(IV) chain|collagen of basement membrane, alpha-5 chain|dA149D17.3|dA24A23.1 protein-coding 1343037 COL4A6 collagen, type IV, alpha 6 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. [provided by RefSeq] 1580863 19913121,20628086,20673868,12878203,18782525,19422682,20452482,8125972,18474427,18074349,17955302,16507901,15772651,15679046,15211113,15146197,14592452,12477932,10737800,10416788,10382266,9878537,9673377,9506531,9136074,8661006,8356449,8175748,8006028,7972123,7592929,7500359,6988303,6811420,6389236,6386565,3997552,2426947,1724753,1377218,11711546,12180907 1288 NM_001847,NM_033641,NG_012059,AL031177,AL034369,AL109943,AL136080,CH471120,D28116,D63562,U47004,AK300502,BC000874,BC005305,BC070203,BC140855,BC144669,BF726518,BQ331638,BT007228,CB050016,CN313347,CR605243,D21337,EU182215,L22763,U04845 NP_001838,NP_378667,CAI43139,CAI43140,CAI42045,CAI42047,CAI42993,CAI42995,CAI40756,CAI40758,EAX02687,EAX02688,BAA09791,AAB19038,AAB19039,BAG62216,AAH05305,AAH70203,AAI40856,AAI44670,AAP35892,BAA04809,ABW24668,AAA16338,AAA19569,Q6NSE8,Q9BS57,Q9UEH6,Q14031 Hs.145586 CXDELq22.3|DELXq22.3|MGC88184 collagen IV, alpha-6 polypeptide|collagen alpha 6 type IV|collagen alpha-6(IV) chain|collagen of basement membrane, alpha-6|dJ889N15.4 (Collagen Alpha 6(IV)) protein-coding 733435 COL5A1 collagen, type V, alpha 1 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq] 1581210,1581211,1581212,734808,1580863 19913121,20628086,20673868,20719862,20798666,20140262,11751872,19426620,19527514,19654427,20359947,20452482,8440685,8900172,2203476,14970208,9099729,18305566,11278977,15095409,9683580,16430677,16431952,19422640,19180518,19019335,18972565,18818748,18487259,18443036,18353721,17965778,17407447,15164053,15136578,14702039,14504037,12477932,12145749,11741999,10796876,10722718,10602121,9840442,9582436,9501082,9042913,8575750,8181482,7646438,7346227,6693501,6501291,2496661,2071595,1722213,1572660,1571108,3571333,2446864,2745554,12847218,19042922,20625483,20635400 1581210,1581211,1581212,734808 1289 NM_000093,NG_008030,AL591890,AL603650,AL645768,CH471090,L38808,AB209864,AB371583,AK057231,AK122763,BC008760,BC032405,D90279 NP_000084,CAI15483,CAI39858,CAI39859,CAI17261,EAW88128,EAW88129,EAW88130,EAW88131,EAW88132,AAA79853,BAD93101,BAG48312,AAH08760,BAA14323,P20908,Q59EE7,Q96HC0,Q9UML4 Hs.210283 alpha 1 type V collagen|collagen alpha-1(V) chain protein-coding 736788 COL5A2 collagen, type V, alpha 2 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq] 734809,1600694,1580863 19913121,20628086,20673868,17666000,19527514,20379614,20452482,9425231,16431952,9783710,19180518,19019335,18818748,15815621,15489334,15136578,14557872,12477932,12145749,11940702,11741999,11566270,10777716,9659900,9550630,8660106,8181482,3858826,3224983,3029669,2985598,2914927,2411731,1820205,1571108,20625483,20140262 734809,1600694 1290 X04758,Y14690,NM_000393,NG_011799,AC064833,AC133106,AY016288,AY016295,CH471058,J03051,M58529,AB209045,AK297936,AK300146,AL552427,BC015705,BC043613,BC086874,J04478,M10956,M11135,M11718 CAA28454,CAA75002,P05997,Q5PR22,NP_000384,AAY24185,AAL13165,AAL13166,EAX10906,EAX10907,EAX10908,AAA51858,AAC41699,BAD92282,BAG60252,BAG61932,AAH43613,AAH86874,AAA51859,AAA52007,AAA51857,AAA52058 Hs.445827 MGC105115 AB collagen|collagen alpha-2(V) chain|collagen, fetal membrane, A polypeptide|type V preprocollagen alpha 2 chain protein-coding 736080 COL5A3 collagen, type V, alpha 3 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. 19012342,10722718,1571108,15316020,15136578,11423559,9443080,8535602,7346227,7115902,6501291,1916105 50509 NM_015719,AC008742,CH471106,AB209175,AF177941,BQ006883,CR623259 NP_056534,EAW84061,BAD92412,AAF59902,P25940,Q59GD4 Hs.235368 collagen alpha-3(V) chain|pro-(alpha)3(V) collagen protein-coding 1352880 COL6A1 collagen, type VI, alpha 1 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq] 1580863,1600934 20721706,12374585,12011280,11973338,11932968,11865138,11337467,10830953,10407855,9580662,9501082,9334230,9107679,8889548,8782832,8618682,8536701,8168508,6852033,3665927,3348212,3198591,1765372,1544908,2446864,12477932,2551668,19309692,19204726,18825676,18634150,18551403,18378883,18366090,18246005,17602442,17537636,17334655,16434404,16227896,16141002,16130093,15563506,15489334,15146197,14981181,12958705,12840783,12736748,20976770,8900172,21037586 1600934 1291 NM_001848,NG_008674,AJ011932,AP001479,CH471079,S75420,X92430,X99109,X99135,AK298968,AK299396,AK307989,AU100220,BC005159,BC022236,BC032821,BC052575,BI769554,BM686857,BM707144,CN369002,CN369026,CN369041,CR601881,CR602939,CR612627,CR615228,CR622934,M20776,M27447,X06194,X15879,X15880 NP_001839,EAX09320,EAX09321,EAX09322,AAB20835,CAA67559,CAA67576,BAG61063,BAG61380,AAH05159,AAH22236,AAH32821,AAH52575,AAA52055,CAA29555,CAA33888,CAA33889,P12109,Q05BT9,Q8TBN2 Hs.474053 OPLL alpha 1 (VI) chain (61 AA)|collagen VI, alpha-1 polypeptide|collagen alpha-1(VI) chain protein-coding 1313701 COL6A2 collagen, type VI, alpha 2 This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq] 1600934,1600938,1580863 12812986,19698785,20106987,20302629,19309692,19204726,18852439,18366090,18029348,17602442,16141002,16075202,15563506,15489334,15146197,14981181,12840783,12477932,12374585,12297580,12218063,12176987,12011280,11865138,11381124,10830953,9334230,9099729,8782832,8305732,8168508,6852033,3665927,3348212,3198591,2551668,1765372,1690728,1602151,1556127,1544908 1600934,1600938 1292 AL044156,AL096746,AL360197,AY029208,BC002484,BC065509,BM989656,BT006913,CN352095,CN352155,CR536573,CR590108,CR590704,CR597541,CR604559,CR607797,CR611112,CR618549,CR618828,CR619670,CR624946,CR625689,CR626094,M34570,M34571,M34572,M34573,X06195,X15977,AK128695,NM_058175,NM_058174,NG_008675,AP001101,AP001467,AP001471,CH471079,M81834,M81835,M81836,S75462,AF218010,AI275476,NM_001849 CAB46421,AAA52056,AAH02484,AAH65509,AAP35559,CAG38810,AAA35621,AAA35618,AAA35619,AAA35620,CAA29556,CAA34099,P12110,Q6FHW5,Q7LCA7,Q9BUM6,ACE87463,ACE86777,NP_001840,NP_478055,NP_478054,EAX09316,EAX09317,EAX09318,AAB20836,AAG17252 Hs.625041,Hs.420269 DKFZp586E1322|FLJ46862|PP3610 OTTHUMP00000115569|OTTHUMP00000115570|collagen VI, alpha-2 polypeptide|collagen alpha-2(VI) chain|human mRNA for collagen VI alpha-2 C-terminal globular domain protein-coding 1318630 COL6A3 collagen, type VI, alpha 3 This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq] 1580863,1600940 8782832,19401702,18366090,17918257,16613849,19834535,19837927,19851296,20198315,20379614,16335952,15965965,15563506,15146197,14702039,12477932,12077460,12011280,11992252,11785962,9536084,9516440,9265624,8889548,8862926,8805527,8387021,7533217,3665927,3348212,3198591,1689238,1339440,16141002 1600940 1293 NM_057166,NM_057165,NM_004369,NM_057164,NG_008676,AC112715,AC112721,CH471063,AB209636,NM_057167,AK092021,AK303290,AK304870,AK308451,AL698472,AL706147,AL710464,BC033174,BC144595,BC150625,BC171790,BQ446249,BU687672,BX641155,BX647361,BX647500,CN281809,CR601767,DC411101,M20778,M27449,S49432,X06196,X52022,HM015590 NP_476508,NP_476507,NP_476506,NP_004360,NP_476505,AAY14906,AAY24135,EAW71103,EAW71104,EAW71105,EAW71106,EAW71107,EAW71108,EAW71109,EAW71110,BAD92873,BAG52467,BAG64366,BAG65607,AAH33174,AAI44596,AAI50626,AAI71790,CAE46068,CAH56139,AAA52057,AAB24261,CAA29557,CAA36267,P12111,Q59F25,Q63HQ4,Q6MZG6,Q8N4Z1,AAI72233,ADL14511 Hs.233240 DKFZp686D23123|DKFZp686K04147|DKFZp686N0262|FLJ34702|FLJ98399 OTTHUMP00000202895|OTTHUMP00000213923|collagen VI, alpha-3 polypeptide|collagen alpha-3(VI) chain protein-coding 3051197 COL6A4P2 collagen, type VI, alpha 4 pseudogene 2 This transcribed pseudogene represents the 3' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). The predicted ORF contains multiple premature stop codons. A large chromosome break separates this pseudogene from the 5' end of the presumed ortholog (DVWA, GeneID 344875) which is located upstream at chromosome 3p24.3. [provided by RefSeq] 19486942,15146197,18400749 646300 AC093004,AC112646,AC130888,BF593933,CN285077,DR731426,DV080502,EG328528,NR_027898 Hs.722731,Hs.170475,Hs.690086 COL6A4 pseudo 3052729 COL6A6 collagen, type VI, alpha 6 16641997,18276594,18400749,20882040 131873 AC093006,AC117398,AC128683,AL713792,AM774225,AM774226,AM774227,NM_001102608 A6NMZ7,CAH10639,CAO81739,CAO81740,CAO81741,NP_001096078 Hs.591282 collagen alpha-6(VI) chain protein-coding 1322869 COL7A1 collagen, type VII, alpha 1 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq] 1600946,1580863 16169070,19422682,19435799,19665875,19681861,19945621,19269366,8170945,9375848,19367581,19250433,19197535,18558993,18496702,18450758,18440202,18429782,18374850,18331784,17916216,17900868,17525268,17495952,17425959,17336503,17229600,17106611,16971478,16923137,16500083,16470588,15888141,15816848,15810887,15774758,15365990,15113589,14727126,12787118,12485454,12353709,12060403,11986329,11874498,11843659,11168577,11167698,11142768,10836608,10821839,10737800,10652000,10620140,10583163,10504458,10469344,10383749,10233777,10232408,10232407,10232406,10084325,9989793,9892921,9881948,9856844,9856843,9840442,1871109,1567409,1469284,1307247,20184583,20555349,9804332,9740253,9668111,9444387,9326325,9245798,9215684,9169408,8757758,8644730,8644729,8618021,8618018,8592061,8541842,8513326,8499916,8422754,8088784,8051117,7963647,7883979,7861014,7513737,5910871,2653224,2537292,20920254,19486043,20598510 1600946 1294 NG_007065,AC121252,CH471055,L23982,AB209645,BQ300155,D13694,L02870,L06862,M65158,M96984,S51236,NM_000094 NP_000085,EAW64893,EAW64894,EAW64895,EAW64896,EAW64897,AAA58965,BAD92882,BAA02853,AAA75438,AAA89196,AAA96439,AAA36357,AAB24637,Q02388,Q59F16 Hs.476218 EBD1|EBDCT|EBR1 LC collagen|collagen VII, alpha-1 polypeptide|collagen alpha-1(VII) chain|long chain collagen|long-chain collagen protein-coding 1319668 COL8A1 collagen, type VIII, alpha 1 This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same isoform have been observed. [provided by RefSeq] 1580863 19913121,20628086,20385826,20379614,10731515,10666376,9705353,9438378,2029894,17721297,16936088,16713569,16189514,15489334,12782141,12482545,12477932,12107410,11689488,10823842 1295 NM_001850,NM_020351,AC055723,AC069222,CH471052,AF170702,AK311449,AY550974,BC013581,BQ774361,BT009917,CA393523,X57527 NP_001841,NP_065084,EAW79837,EAW79838,EAW79840,AAF89665,AAT52220,AAH13581,AAP88919,CAA40748,P27658,ABM84799 Hs.654548 C3orf7|MGC9568 OTTHUMP00000192897|cell proliferation-inducing protein 41|collagen VIII, alpha-1 polypeptide|collagen alpha-1(VIII) chain|endothelial collagen|smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64 protein-coding 1313058 COL8A2 collagen, type VIII, alpha 2 1580863 20144242,2019595,18502986,18024822,17721297,17471329,16936088,16908762,15914606,15851557,15175909,14990571,14702039,12782141,12477932,11689488,10686422,9705353,2029894,9438378 1296 NG_016245,NM_005202,AL138787,CH471059,M60832,AK074129,AK090924,BC096295,BC096296,BC096297,BC099645 NP_005193,CAI22267,EAX07388,AAA62822,BAB84955,AAH96295,AAH96296,AAH96297,AAH99645,P25067,Q4VAP9,Q4VAQ0,Q4VAQ1 Hs.353001 FECD|FECD1|FLJ00201|MGC116970|MGC116972|PPCD|PPCD2 OTTHUMP00000194904|collagen VIII, alpha-2 polypeptide|collagen alpha-2(VIII) chain|dJ665N4.1 (collagen type VIII alpha 2)|endothelial collagen protein-coding 1298223 COL9A1 collagen, type IX, alpha 1 This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq] 738111,1600949,1580863 19913121,20507993,20628086,20379614,8660302,3473493,9707347,19180518,17881354,17553797,17548304,16909383,16718610,16344560,15922184,15880806,15802199,15694129,15523498,15489334,15047691,14702039,14574404,12477932,12399468,12107410,11565064,11308397,8244386,7829101,3542919,3294062,2465149,2446864,2209617,1690886,1429648,11724554,20358595 738111,1600949 1297 AF036117,AF036118,AF036119,AF036120,AF036121,AF036122,AF036123,AF036124,AF036125,AF036126,AF036127,AF036128,AF036129,AF036130,AL080275,AL160262,CH471051,M32133,M32135,M32137,M34534,AF036116,AK097582,AK125738,AU118474,AW021120,AW022764,BC008620,BC015409,BC063646,BF196880,BI494750,BI495179,CA392556,X54412,X54413,NM_001851,NM_078485,NG_011654,AF036110,AF036111,AF036112,AF036113,AF036114,AF036115 CAI19589,CAI19590,CAI19591,CAI42320,CAI42321,EAW48822,EAW48823,EAW48824,EAW48825,EAW48826,EAW48827,AAA53474,AAA53475,AAF67394,BAG54240,AAH15409,AAH63646,CAA38276,CAA38277,P20849,Q5TF53,NP_001842,NP_511040,AAC33527,AAC33528 Hs.590892 DJ149L1.1.2|EDM6|FLJ40263|MED OTTHUMP00000016699|alpha-1(IX) collagen chain|cartilage-specific short collagen|collagen IX, alpha-1 polypeptide|collagen alpha-1(IX) chain protein-coding 1315981 COL9A2 collagen, type IX, alpha 2 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq] 1600952,1580863 19913121,20628086,8660302,10364514,19180518,18469698,18246003,18080148,17471097,17024315,16710414,16371896,16249825,16133074,15922184,15625128,15523498,15167667,12782139,12477932,12244547,11805640,11724554,11565064,11308397,10411504,9707347,8528240,8454052,8244386,7942845,7829066,3473493,2446864,1429648,16169070,16440132,16586133,20358595 1600952 1298 NM_001852,NG_008031,AF019406,AL050341,CH471059,BC041479,BC065715,BC136326,BC136327,M95610 NP_001843,AAC33512,CAB81611,EAX07224,EAX07225,EAX07226,EAX07227,EAX07228,EAX07229,EAX07230,EAX07231,EAX07232,AAI36327,AAI36328,AAA80977,Q14055 Hs.418012 DJ39G22.4|EDM2|MED alpha 2 type IX collagen|collagen IX, alpha-2 polypeptide|collagen alpha-2(IX) chain protein-coding 1321049 COL9A3 collagen, type IX, alpha 3 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq] 1600695,1580863 20029029,3473493,2446864,1429648,10428822,3542919,8660302,8586434,19180518,18469698,17701042,17471097,16586133,16133074,15922184,15917166,15523498,15489334,15167667,12782139,12601188,12477932,12461395,12096843,11780052,11724554,11565064,11308397,10678658,10655510,10090888,9164858,20358595 1600695 1299 NG_016353,NM_001853,AF026801,AF026802,AL035669,CH471077,AK075240,BC004412,BC007574,BC011705,CR611329,CR619945,L41162,X91013 NP_001844,AAD47357,CAC12750,CAI95767,EAW75333,EAW75334,AAH04412,AAH07574,AAH11705,AAC41947,CAA62495,Q14050,Q4VXW0,Q96IF4,Q9BT15,ABM83872,ABM87193 Hs.716639 DJ885L7.4.1|EDM3|FLJ90759|IDD|MED collagen IX, alpha-3 polypeptide|collagen alpha-3(IX) chain|collagen type IX proteoglycan protein-coding 1316172 COLEC10 collectin sub-family member 10 (C-type lectin) This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq] 1580863 12450124,10224141,12975309,12477932,20237496 10584 CH471060,AB002631,AK291791,AY359038,BC103815,BC103816,R97432,AC107953,NM_006438,AC080033 EAW91979,EAW91980,BAA81747,BAF84480,AAQ89397,AAI03816,AAI03817,Q9Y6Z7,NP_006429 Hs.176615 CLL1|MGC118794|MGC118795 CL-34|collectin 34|collectin liver 1|collectin liver protein 1|collectin-10|collectin-34 protein-coding 1320152 COLEC11 collectin sub-family member 11 COLEC11 is a member of the collectin family of C-type lectins, which contain a collagen-like domain and a carbohydrate recognition domain, and play a role in host-defense (Keshi et al., 2006 [PubMed 17179669]).[supplied by OMIM] 20956340,17179669,12975309,12477932,19724895,19851296,20198315,20237496,17207965 78989 NM_024027,AC010907,CH471053,AB119525,AB119650,AB119651,AB119652,AB119684,AB119685,AB119686,AB119687,AK303824,AK313840,NM_199235,AY358439,BC000078,BC009951,BF316908,CR599770,CR604552,CR612268,CR936641,FB676850 NP_954705,NP_076932,AAY24235,EAX01052,EAX01053,EAX01054,EAX01055,BAF43301,BAF43302,BAF43303,BAF43304,BAF79604,BAF79605,BAF79606,BAF79607,BAG64772,AAQ88805,AAH00078,AAH09951,CAI56781,Q9BWP8,BAG36572,CAS03503,ADQ31683 Hs.32603 CL-K1-I|CL-K1-II|CL-K1-IIa|CL-K1-IIb|CLK1|DKFZp686N1868|MGC3279 CL-K1|collectin kidney I|collectin kidney protein 1|collectin-11 protein-coding 1347237 COLEC12 collectin sub-family member 12 This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that can bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. In addition, these receptors can recognize oxidized phospholipids so they may also participate in removing oxidatively damaged or apoptotic cells. [provided by RefSeq] 1580863 20351715,11564734,19073604,18423602,15845541,12761161,12601552,12477932,11162630,20034698,20237496,20379614 81035 AA903451,NM_130386,AP000915,AP005240,CH471113,AB005145,AB034251,AB038518,AB052103,AL713657,BC060789,CR610483,DB473908 NP_569057,EAX01728,EAX01729,BAB72147,BAD83592,BAB39147,BAB39148,CAD28466,AAH60789,Q5KU26 Hs.464422 CLP1|NSR2|SCARA4|SRCL collectin placenta 1|collectin placenta protein 1|collectin-12|hCL-P1|nurse cell scavenger receptor 2|scavenger receptor class A member 4|scavenger receptor class A, member 4|scavenger receptor with C-type lectin protein-coding 1350668 COLEC13 collectin sub-family member 13 408219 1342828 COLEC14 collectin sub-family member 14 408220 1343274 COLEC2 collectin sub-family member 2 50639 1350468 COLEC8 collectin sub-family member 8 (conglutinin) 50638 1347762 COLEC9 collectin sub-family member 9 (collectin 43) 50637 1352305 COLOT1 collagen (type VI, alpha 1), overlapping transcript 1 10830953 10596 AF076431 AAD51089 KGC1 protein-coding 736660 COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 704404,1300297,1580863 15159418,9689136,18180250,17300939,16256971,15526038,15489334,14759258,12609505,12477932,11865139,10679527,10529218,10441569,9758617 1300297 8292 NM_080539,NM_005677,NM_080538,NG_009032,AC027125,AC027129,AF229118,AF229122,AF229124,AF229126,CH471055,AF057036,AI246303,AI554171,AJ225895,AK128401,AK289688,AY150334,AY150335,AY150336,AY150337,AY150338,AY150339,BC074828,BC074829,BC126363,BC144004,BX500613 NP_005668,NP_536799,AAF43196,AAF43200,AAF43195,AAF43197,AAF43198,AAF43199,AAF43201,AAF43202,EAW64235,NP_536800,EAW64237,EAW64238,EAW64239,EAW64240,EAW64241,EAW64242,EAW64243,EAW64244,EAW64245,EAW64246,EAW64247,EAW64248,EAW64249,EAW64250,AAC39927,CAA12648,BAG54671,BAF82377,AAO06814,EAW64236,AAO06815,AAO06816,AAO06817,AAO06818,AAO06819,AAH74828,AAH74829,Q9Y215 Hs.146735 EAD|FLJ55041 AChE Q subunit|OTTHUMP00000209566|OTTHUMP00000209567|acetylcholinesterase collagenic tail peptide|acetylcholinesterase-associated collagen|collagenic tail of endplate acetylcholinesterase|single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase protein-coding 1323402 COMMD1 copper metabolism (Murr1) domain containing 1 12477932,15799966,19240061,18974300,18940794,18795889,18305112,17919502,17309234,17183367,17097678,16649058,16573520,16305817,16283886,15489334,15205742,14685266,14685242,14645214,14568250,12968035,12547404,11809725,11329013,9373149,9001233,8125298,20550661,20595380,16267171,19433587,19802386,20048074,20068069,20379614,18029348,17207965 150684 NM_152516,AC018462,AC107081,AC116652,CH471053,AB178811,AK223607,AK294203,BC009266,BC022046,BG182961,BG183486,BG215225,D85433 NP_689729,AAX93080,AAY24141,AAY24054,EAW99981,BAD18972,BAD97327,BAG57515,AAH09266,AAH22046,Q53EN2,Q53Q75,Q53QP8,Q53SJ8,Q8N668,ADQ32226 Hs.468702 C2orf5|MGC27155|MURR1 COMM domain-containing protein 1|copper metabolism gene MURR1|protein Murr1 protein-coding 1346630 COMMD10 COMM domain containing 10 12477932,11042152,15799966,15489334,14702039,17207965,19913121,20628086 51397 NM_016144,AC018752,AC034236,AC109456,CH471086,AF161423,AK002147,AY542165,BC005179,CR609736,CR611628,AF078857 NP_057228,EAW48941,EAW48942,EAW48943,AAD44489,AAF28983,BAA92108,AAS22247,AAH05179,Q9Y6G5,ADQ31639 Hs.483136 FLJ11285|PTD002 COMM domain-containing protein 10|OTTHUMP00000222923 protein-coding 1319139 COMMD2 COMM domain containing 2 17207965,14702039,16344560,15799966,15489334,12477932,11042152,8889548 51122 AK055223,BG700015,BU633168,DA811158,NM_016094,AC069216,CH471052,AF059618,AF125096,AY542158,BC001228,BC022206,BC046131,BC093077,BI792102,BM981499,BQ216242,CR613367,CR601361 ADQ33102,NP_057178,EAW78866,EAW78867,AAG43117,AAD39913,AAS22240,AAH46131,AAH93077,Q561V4,Q86X83 Hs.432729 HSPC042|MGC57611 COMM domain-containing protein 2|OTTHUMP00000216008|OTTHUMP00000216009 protein-coding 1349755 COMMD3 COMM domain containing 3 1580863 16169070,15799966,15489334,12477932,11042152 23412 NM_012071,AL158211,CH471072,AF078848,AF201948,AK128789,AY542159,BC022898,BG496810,BQ930333,BX647275,CR596018,CR602018,CR610659,CR612205,CR623274,CR625344 NP_036203,CAI15950,CAI15951,CAI15952,CAI15953,EAW86149,EAW86155,AAD44480,AAF17240,BAG54735,AAS22241,AAH22898,Q5T8Z0,Q9UBI1 Hs.534398,Hs.720384 BUP|C10orf8|DKFZp686K0399|FLJ45471 COMM domain-containing protein 3|OTTHUMP00000019287|OTTHUMP00000019288|protein Bup protein-coding 1314525 COMMD4 COMM domain containing 4 15799966,11256614,15489334,14702039,12477932,11230166,9373149,8125298 54939 NM_017828,AC068338,CH471136,AK000459,AK057145,AK225716,AK293708,AK314740,AL136872,AY542160,BC000837,BC033744,BC040944,BC068998,BC069195,BI829484,CR533452,CR599145,CR603489,CR618150,CR618327 NP_060298,EAW99261,EAW99262,EAW99263,BAA91178,BAG57141,BAG37281,CAB66806,AAS22242,AAH00837,AAH68998,CAG38483,Q9H0A8 Hs.351327 FLJ20452 COMM domain-containing protein 4 protein-coding 1348607 COMMD5 COMM domain containing 5 1580863 15799966,18949406,15489334,14702039,12477932,11871861,10931946,10918053,19795399 28991 NM_001081003,NM_014066,NM_001081004,AF235103,CH471162,AF113540,AF290195,AK001477,AK023070,AW137480,BC002672,BC003055,BC065729,BG705627,BM924244,BU508224,CR615841,CR619089 NP_001074472,NP_054785,NP_001074473,EAW82033,EAW82034,EAW82035,EAW82036,EAW82037,AAF14877,AAG09915,BAA91714,BAB14389,AAH02672,AAH03055,AAH65729,Q9GZQ3 Hs.631856,Hs.633897 FLJ13008|HCARG|HT002|MGC72046 COMM domain-containing protein 5|hypertension-related calcium-regulated gene protein protein-coding 1606132 COMMD6 COMM domain containing 6 COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM] 15799966,16573520,15489334,15057823,12477932,11829485 170622 NM_203497,AL137244,CH471093,AF086081,AF169971,AK000009,AW516002,AY542161,BC110837,BC117391,BC143912,BC171758,BM476717,NM_203495,BX538116,CD175553,DB487154,W94914 NP_987091,NP_987093,CAI12417,CAQ09794,CAQ09795,EAW80539,EAW80540,EAW80541,AAQ13599,AAS22243,AAI17392,AAI43913,AAI71758,Q7Z4G1,ADR83450 Hs.508266 Acrg Acrg embryonic lethality minimal region ortholog|COMM domain-containing protein 6|OTTHUMP00000018507 protein-coding 1317181 COMMD7 COMM domain containing 7 15799966,15489334,14702039,12477932,11780052,10393949,20379614 149951 NM_053041,NM_001099339,AL035071,BX640505,CH471077,CR383702,AJ012490,AK027893,AK096307,AK097059,AY542162,BC000628,BC022073,BC047440,BG715846,BQ006261,DN993528 NP_444269,NP_001092809,CAI19095,CAM28357,EAW76357,EAW76358,EAW76359,EAW76360,EAW76361,EAW76362,EAW76363,EAW76364,CAI95302,BAB55436,BAG53254,AAS22244,AAH00628,AAH47440,Q86VX2 Hs.408427 C20orf92|FLJ14987|MGC33315|dJ1085F17.3 COMM domain-containing protein 7 protein-coding 1313413 COMMD8 COMM domain containing 8 16169070,20379614,15799966,15489334,14702039,12477932,17207965 54951 NM_017845,AC107398,CH471069,AF182421,AK000509,AY542163,BC008371,BC015145,BC019826,CR594820,CR596169,CR598833,CR607718 NP_060315,EAW93033,EAW93034,AAG14957,BAA91216,AAS22245,AAH08371,AAH15145,AAH19826,Q9NX08,ADQ32450 Hs.23956 FLJ20502 COMM domain-containing protein 8 protein-coding 1317050 COMMD9 COMM domain containing 9 15799966,15489334,14702039,12477932,11230166,11042152,9373149,8125298 29099 BC010892,BC092458,BC108685,BG702189,BM172201,CR590294,CR595405,CR599139,CR612003,CR614360,NM_014186,AC087277,CH471064,AF161515,AI090006,AK055668,AK223213,AK290065,AK295590,AK298978,AK314477,AL136688,AY542164,NM_001101653 AAS22246,AAH10892,Q53FR9,Q9P000,ABM83598,ABM86840,NP_001095123,NP_054905,EAW68128,EAW68129,EAW68130,AAF29130,BAG51551,BAD96933,BAF82754,BAG58482,BAG61072,BAG37082,CAB66623 Hs.279836 FLJ31106|HSPC166 COMM domain-containing protein 9 protein-coding 736605 COMP cartilage oligomeric matrix protein The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq] 1600702,1600705,1580863 19913121,20628086,20819661,20033473,7670472,7713493,19447929,19276170,19125286,19035482,18855621,18193163,17993464,17894003,17588949,17579668,17570134,17195216,17033713,16802351,16542502,16520029,16344560,16340129,16214313,16051604,15880723,15749701,15694129,15523498,15489334,15472220,15266613,15057824,12819015,12792737,12768438,12483304,12477932,12225811,11891674,11782471,11746045,11746044,11565064,11501943,11084047,10405447,9921895,9887340,9749943,9685393,9463320,9373149,9184241,9021009,8307576,8279467,8125298,7670471,7533784,10852928,15047691,15075323,19605679,19762713,19877068 1600702,1600705 1311 NM_000095,NG_007070,AC003107,CH471106,S79499,S79500,AB086984,AK074508,AK223216,AK290595,AK296586,AK297798,AK297814,AU120397,BC033676,BC110847,BC125092,CR621154,L32137 NP_000086,AAB86501,EAW84735,EAW84736,EAW84737,AAB35269,AAB35270,BAC53888,BAC11031,BAD96936,BAF83284,BAG59205,BAG60137,BAG60152,AAI10848,AAI25093,AAA57253,P49747,Q53FR6,Q8N2R4,ABM84218,ABM87644 Hs.1584 EDM1|EPD1|MED|MGC131819|MGC149768|PSACH|THBS5 TSP5|cartilage oligomeric matrix protein|cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)|cartilage oligomeric matrix protein(pseudoachondroplasia, epiphyseal dysplasia 1, multiple)|pseudoachondroplasia (epiphyseal dysplasia 1, multiple)|thrombospondin-5 protein-coding 737102 COMT catechol-O-methyltransferase Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq] 2289709,2289710,2289711,2289713,2289714,2289716,2289717,2289719,2289720,2289721,2289722,2289723,2289724,2289726,2289729,2289734,2289780,2289781,2289788,2289789,1300048,2289712,2289715,2289718,2289725,2289740,2289742,2289747,2289785,2289787,1300384,1300383,1359089,1580863,1300298 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2289709,2289710,2289711,2289713,2289714,2289716,2289717,2289719,2289720,2289721,2289722,2289723,2289724,2289726,2289729,2289734,2289780,2289781,2289788,2289789,2289712,2289715,2289718,2289725,2289740,2289742,2289747,2289785,2289787,1300384,1300383,1359089,1300298 1312 BC100018,BE386545,BE728779,BT007125,BX461394,CR456422,CR456997,CR590298,CR595297,CR602287,CR603360,CR603785,CR609952,CR610047,CR610886,CR612170,CR612917,CR613786,CR616943,CR624969,CR625831,EF103918,EF103922,EF217321,EF217322,FJ410131,FJ410132,M58525,M65212,M65213,NM_000754,NM_001135161,NM_001135162,NM_007310,NG_011526,AC000080,AC000090,AC005663,AY341246,CH471176,Z26491,AK130031,AK290440,BC000419,BC005867,BC011935 AAI00019,AAP35789,CAG30308,CAG33278,ABN14344,ABN14345,ACJ38231,ACJ38232,AAA68929,AAA68927,AAA68928,P21964,Q7KZP0,Q9BWC7,CAK54414,CAK54713,ABM84337,ABM87731,NP_000745,NP_001128633,NP_001128634,NP_009294,AAP88929,EAX03010,EAX03011,CAA81263,BAF83129,AAH00419,AAH05867,AAH11935 Hs.704514,Hs.370408 OTTHUMP00000197750|OTTHUMP00000197751|OTTHUMP00000198331|catechol O-methyltransferase protein-coding 1315279 COMTD1 catechol-O-methyltransferase domain containing 1 737633,1580863 15489334,15164054,14702039,12975309,12477932,16385451,20877624 737633 118881 NM_144589,AL390034,CH471083,AK074421,AK290452,AK302283,AY358476,BC023663,BC047774,CR602194,CR625911 NP_653190,CAH73105,EAW54575,EAW54576,BAB85077,BAF83141,BAG63626,AAQ88840,AAH23663,AAH47774,Q86VU5 Hs.355333 FLJ23841 catechol O-methyltransferase domain-containing protein 1 protein-coding 1344337 COP clathrin-ordered protein 1313 1321477 COPA coatomer protein complex, subunit alpha In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq] 1580863 16956762,11031247,1429581,9115636,8533093,8599108,17081983,16964243,15592455,15302935,14527956,12586295,12477932,12388752,12379802,11323436,9751720,9533652,9365789,9207175,9186507,8940050,8858162,8703076,8647451,8537409,8355790,16169070,10921873,9482852,14729954,17215244,19509059,19615732,20562859 1314 NM_001098398,NM_004371,AL445230,AL513282,CH471121,CQ871262,AK129830,AK307953,BC037941,BC038447,DC308331,U24105 NP_001091868,NP_004362,CAI15004,CAI15005,CAI12454,CAI12455,EAW52723,EAW52724,EAW52725,CAH56812,AAH38447,AAB70879,P53621 Hs.162121,Hs.685025 FLJ26320|HEP-COP HEPCOP|alpha coat protein|alpha-COP|alpha-coat protein|coatomer subunit alpha|xenin protein-coding 731922 COPB1 coatomer protein complex, subunit beta 1 This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 10199403,18556652,16956762,11031247,1840503,8533093,8599108,17140284,16713569,16381901,16344560,16189514,15489336,15489334,14702039,12582157,12486083,12477932,12463424,12437930,12388752,12134073,11897493,11884415,11703931,11409905,11230166,11076863,10982407,10921873,10720466,10318838,9207175,8940050,8601610,8355790,7982906,1898986,11463741,11264386,9017839,15202998,11056392,8858162,9482852,17148452 1315 NM_016451,NM_001144061,NM_001144062,AC018523,CH471064,AA443270,AF084457,AF111807,AK001203,AK128844,AL136593,BC012572,BC037280,CR605573,DA725605,DB455108,X82103 NP_057535,NP_001137533,NP_001137534,EAW68481,EAW68482,EAW68483,EAW68484,EAW68485,AAD41240,AAL39009,CAB66528,AAH37280,CAA57622,P53618,CAL38259,ABM83405,ABM86616 Hs.339278 COPB|DKFZp761K102|FLJ10341|FLJ46444|FLJ57957 beta coat protein|beta-coat protein|beta-cop|coatomer subunit beta protein-coding 732794 COPB2 coatomer protein complex, subunit beta 2 (beta prime) The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM] 1580863 20562859,17220478,17353931,16956762,8335000,11031247,11030615,8533093,8599108,18434597,17081983,15489334,14743216,14527956,12665801,12477932,12388752,11323436,10982407,10921873,9858824,9360998,8940050,8537409,8334999,11897493,14729954,20362547 9276 NR_023350,NM_004766,AC024933,CH471052,CS185545,AK302943,AK304219,BC000326,DC347783,DC385126,X70476 NP_004757,EAW79039,EAW79040,CAJ42726,BAG64100,BAG65091,AAH00326,CAA49900,P35606 Hs.75724 beta'-COP OTTHUMP00000217145|beta'-coat protein|betaprime-COP|coatomer binding complex, beta prime subunit|coatomer subunit beta'|p102 protein-coding 1315598 COPE coatomer protein complex, subunit epsilon The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 12388752,16956762,11031247,8533093,8599108,17721809,17140284,16381901,15489336,15489334,15057824,14702039,12665801,12477932,11323436,11256614,11230166,11076863,10921873,10531302,10469566,9373149,8858162,8355790,8125298,8940050,16169070,9482852,19632984,20237496 11316 CR590464,CR592877,CR593512,CR594651,CR597570,CR604662,CR606967,CR607034,CR607244,CR608364,CR609957,CR610901,CR612461,CR612998,CR613779,CR614039,CR614136,CR614529,CR618263,CR619382,CR456886,NM_199444,NM_199442,NM_007263,AC002985,AC005197,CH471106,AF092438,AI680336,AJ131182,AJ249366,AK023303,AK222584,AK315281,AL136928,BC003155,BC007250,BC017285,BC052619,BI520280,HH768353,HH768391 CAG33167,O14579,Q53HJ6,Q7Z4Z1,Q9UGP6,CAL38636,ABM84343,ABM87734,NP_955476,NP_955474,NP_009194,AAB81543,AAC24612,EAW84748,EAW84749,EAW84750,EAW84751,EAW84752,EAW84753,EAW84754,EAW84755,EAW84756,EAW84757,AAP97213,CAA10316,CAB55628,BAD96304,BAG37690,CAB66862,AAH03155,AAH07250,AAH17285,CBX84922,CBX84941 Hs.10326 FLJ13241|epsilon-COP coatomer epsilon subunit|coatomer subunit epsilon|epsilon coat protein|epsilon-coat protein protein-coding 1345265 COPG coatomer protein complex, subunit gamma 1580863 17353931,16956762,11031247,8533093,8599108,15489334,14702039,14690497,14527956,12477932,12388752,12134073,11893085,11884415,11056392,11018518,10982407,10931946,10921873,10720466,8940050,9482852,20562859,17148452,19039328,19615732,20468064,8858162 22820 NM_016128,AC137695,CH471052,AB047846,AF100756,AK001724,AK024721,AK025147,AK123939,AK291693,AK309821,BC020498,BC066650,BU521557 NP_057212,EAW79267,EAW79268,EAW79269,EAW79270,BAB17657,AAD43020,BAG50968,BAG53983,BAF84382,AAH20498,AAH66650,Q54AC4,Q8WUI6,Q9Y678 Hs.518250 COPG1|FLJ21068 coat protein gamma-cop|coatomer protein complex, subunit gamma 1|coatomer subunit gamma|gamma-COP|gamma-coat protein protein-coding 1347391 COPG2 coatomer protein complex, subunit gamma 2 1580863 1472999,17148452,11409905,10995575,10921873,10556286,10318838,9751720,8940050,1898986,11893085,11884415,17353931,11056392,11030615,14702039,12747765,12690205,12477932,11920156 26958 NM_012133,AC007938,AC009274,AC090520,AC144863,AC145213,AC145656,AF324497,CH236950,CH471070,AB047847,AF157833,AF207598,AF308295,AI566718,AK002086,AK022934,AK024414,AK291409,AL162012,BC017443,BC110796,BG470623,BG704011,BX089636,BX353590,CR593178 NP_036265,AAL17778,EAL24085,EAW83769,BAB17658,AAF14271,AAF19433,AAG48262,BAA92078,BAB14315,BAG51296,BAF84098,CAB82364,AAH17443,AAI10797,Q2NLA0,Q96PK0,Q9H279,Q9H9B7,Q9NSM7,Q9NUP3,Q9UBF2 Hs.6421 2-COP|DKFZp761N09121|FLJ11781 coat protein, nonclathrin, gamma-2-cop|coatomer subunit gamma-2|gamma-2-COP|gamma-2-coat protein protein-coding 1351075 COPG2IT1 COPG2 imprinted transcript 1 (non-protein coding) 14702039,10995575,9110174,8619474,19844787 53844 NR_024086,CH236950,AF038190,AK123640 Hs.715567 CIT1|COPG2AS|DKFZP761N09121|FLJ41646|NCRNA00170 miscrna 1353959 COPS2 COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) 17438371,9535219,7776974,18029348,19535905,18174916,17968325,17929852,17570542,17339334,16344560,15489334,15304329,15173382,15146197,15062575,14647295,12732143,12628923,12615944,12522100,12477932,12220626,11337588,11285227,11114242,10991940,10931946,10713076,10585392,10207062,10087198,9707402,9373149,8889548,8125298,18173839,17353931,16949367,16964240,19615732,16036220 9318 BM667648,BX648602,CN281648,CN287009,CR542063,CR601131,CR604522,CR614722,DB059510,L40388,NM_004236,AC013452,CH471082,AB209799,AF084260,AF100762,AF120268,AF212227,AK222590,AK295598,AK312643,BC012629,NM_001143887 AAH12629,CAG46860,AAC41734,P61201,Q53HJ0,Q59EL2,ABZ92273,ACE87153,ACE86472,NP_001137359,NP_004227,EAW77364,EAW77365,EAW77366,BAD93036,AAC34122,AAD43026,AAD30269,AAK26250,BAD96310,BAG58487,BAG35527 Hs.369614 ALIEN|CSN2|SGN2|TRIP15 COP9 signalosome complex subunit 2|JAB1-containing signalosome subunit 2|TR-interacting protein 15|TRIP-15|alien homolog|signalosome subunit 2|thyroid receptor interacting protein 15|thyroid receptor-interacting protein 15 protein-coding 1350505 COPS3 COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 15861129,9535219,15489334,15325100,14647295,12917637,12732143,12665801,12628923,12620389,12508107,12477932,12220626,11997338,11418127,11337588,11285227,11114242,10766246,10191102,9707402,17353931,12615944,18029348,16949367,16964240,17429597,19615732,15342556,17207965,16036220 8533 CR611420,CR613300,CR616766,CR617410,CR618089,CR619826,CR622277,AC055811,CH471196,AF031647,AF098109,AK297706,AK302304,AK312476,BC001891,BQ018146,CR590945,CR594817,CR595552,CR597915,CR599192,CR600698,CR602972,CR608585,NM_003653,AK316400,BP260214,BU952436,NM_001199125 Q9UNS2,NP_003644,EAW55711,EAW55712,EAW55713,AAC14197,AAD41247,BAG60063,BAG63643,BAG35380,AAH01891,BAH14771,ADQ31729,NP_001186054 Hs.6076 CSN3|SGN3 COP9 complex subunit 3|COP9 signalosome complex subunit 3|JAB1-containing signalosome subunit 3|signalosome subunit 3 protein-coding 1345570 COPS4 COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. [provided by RefSeq] 1304475,1580863 16189514,17353931,15489334,14702039,14647295,12732143,12628923,12615944,12477932,12220626,11824616,11567875,11337588,11285227,10991940,10585392,9847074,9707402,9535219,9373149,8125298,16949367,16964240,19615732,16036220 1304475 51138 NM_016129,AC021105,AC073840,AC108473,CH471057,AF100757,AK001148,AK001210,AK024005,AK094238,AK223178,BC004302,BC009292,BC093007,CD690475,CR595705,CR600458,CR600599,CR605209,CR607122,CR609378,CR620449,CR620923,CR625192 NP_057213,EAX05921,EAX05922,AAD43021,BAG50860,BAA91555,BAG51250,BAG52847,BAD96898,AAH04302,AAH09292,AAH93007,Q53FV3,Q9BT78 Hs.190384 CSN4|MGC10899|MGC15160 COP9 signalosome complex subunit 4|JAB1-containing signalosome subunit 4|OTTHUMP00000219385|OTTHUMP00000219386|OTTHUMP00000219387|OTTHUMP00000219389|SGN4|signalosome subunit 4 protein-coding 1321125 COPS5 COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq] 20698225,14500725,15604093,16949367,16951171,16964240,17350042,17429597,18246793,18476592,19349901,19461157,19615732,20034471,20093369,18173839,12615944,19214193,12032852,12082530,15480426,15887118,8837781,9341143,18029348,19400951,19246649,19139918,18667426,18593980,18534028,18346358,18285702,18246048,18199546,18006276,17914096,17879958,17583730,17133595,17052710,17027978,16936264,16882664,16713569,16624822,16483597,16410250,16300740,16187115,16122907,16000397,15994944,15899841,15688030,15671554,15489334,15353483,15304329,15234121,15231748,15154004,15126503,14993265,14737182,14732868,14719054,14707456,14702039,14666612,14647295,14500717,12860294,12732143,12702588,12628923,12477932,12220626,12183637,12119282,11818334,11812799,11709497,11707426,11704659,11337588,11285227,11089976,10766246,10722692,10362352,10086358,9707402,9535219,16036220,20936779 10987 NM_006837,AC109335,AC110998,CH471068,AA203444,AB209134,AK056967,AK128519,AK310434,AK311071,BC001187,BC001859,BC007272,BI752436,BX648542,CR541678,CR591431,CR604403,CR618159,U65928,U70734,HC062374 NP_006828,EAW86928,EAW86929,EAW86930,EAW86931,BAD92371,AAH01187,AAH01859,AAH07272,CAH10375,CAG46479,AAB16847,AAD03468,Q59GH5,Q92905,CBH51784 Hs.491912 CSN5|JAB1|MGC3149|MOV-34|SGN5 38 kDa Mov34 homolog|COP9 signalosome complex subunit 5|jun activation domain-binding protein 1|signalosome subunit 5 protein-coding 1626577 COPS5P COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) pseudogene 135270 NG_003102,AL138731 pseudo 1320520 COPS6 COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq] 737633 16949367,16964240,19615732,17337451,18060501,16169070,15757663,15489334,15383276,14667819,14647295,12732143,12690205,12628923,12615944,12477932,12446680,12237292,12220626,12110603,11531413,11337588,11285227,11244567,16036220,10958988,10921877,9707402,9535219,9520381,9341143,9094673,8195203,7666531,7494303,7474100,7474080,1222062,15832179 737633 10980 NM_006833,AC073842,CH236956,CH471091,AK295237,AK312024,BC002520,BI113801,CB990467,CD367717,CR592466,CR593213,CR593453,CR611209,CR617171,U70735,HB886687,HC944096 NP_006824,EAL23857,EAW76601,EAW76602,BAG58230,BAG34961,AAH02520,AAD03469,Q7L5N1,ABM82869,ABM85853,CBF67503,CBU92376 Hs.15591 CSN6|MOV34-34KD COP9 signalosome complex subunit 6|COP9 subunit 6 (MOV34 homolog, 34 kD)|H_NH0506M12.12|JAB1-containing signalosome subunit 6|MOV34 homolog, 34 kD|OTTHUMP00000206384|SGN6|hVIP|signalosome subunit 6|vpr-interacting protein protein-coding 1320761 COPS7A COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) 16036220,16169070,15502821,15489334,14702039,14647295,12732143,12628923,12477932,12220626,12020345,11337588,11285227,9707402,9535219,12615944,16344560,16949367,16964240,17350042,17429597,19596235,19615732,18029348 50813 AC125494,CH471116,AB014764,AB033603,AF193844,NM_016319,AF210052,AK001318,AK021721,AK022488,AK128792,AK292621,BC011789,CR603662,BC093015,CR591390,CR592602,CR592980,CR594015,CR596731,CR599521,CR603520,CR605258,CR605450,CR605577,CR613057,CR614333,CR619642,CR620180,CR620296,CR621364,CR622122,CR623628,BQ008460,DA043679,DA365275,DC355036,NM_001164093,NM_001164094,NM_001164095 NP_057403,EAW88745,EAW88746,EAW88747,EAW88748,EAW88749,BAB87805,BAA85390,AAF04307,AAF19205,BAA91620,BAG51042,BAB14052,BAG54737,BAF85310,AAH11789,AAH93015,Q567U8,Q9UBW8,ABM83820,ABM87140,NP_001157565,NP_001157566,NP_001157567 Hs.530823 CSN7A|MGC110877 COP9 complex subunit 7a|COP9 signalosome complex subunit 7a|JAB1-containing signalosome subunit 7a|SGN7a|dermal papilla-derived protein 10|signalosome subunit 7a protein-coding 1315805 COPS7B COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) 1580863 18391951,15489334,14702039,12732143,12628923,12477932,12220626,12020345,11337588,11285227,9707402,8125298,16949367,16964240,19615732,9373149 64708 CR607579,CR599003,NM_022730,AC073476,CH471063,AK022674,AK024273,AK098334,AK124133,AK126326,AK222879,AK307486,BC010739,BC091493,CR591213 Q53GQ2,Q6ZTQ7,Q9H9Q2,NP_073567,AAY24152,EAW70979,EAW70980,EAW70981,EAW70982,BAB14170,BAB14868,BAG53614,BAG54013,BAC86526,BAD96599,AAH10739,AAH91493 Hs.335061 CSN7B|FLJ12612|MGC111077 COP9 signalosome complex subunit 7b|JAB1-containing signalosome subunit 7b|OTTHUMP00000204226|OTTHUMP00000204231|OTTHUMP00000204237|SGN7b|signalosome subunit 7b protein-coding 1322849 COPS8 COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 16964240,17350042,18173839,19615732,8689678,18424433,17318178,15489334,15304329,14647295,12732143,12628923,12615944,12477932,12324474,12220626,11567875,11337588,11285227,11032325,10991940,10585392,9707402,20399188,9535219,8889549,7634324,17207965,16036220 10920 NM_198189,NM_006710,AC105760,CH471063,AA004869,AI077560,AI690743,AK289891,AK294078,AK308962,AK313437,AL038738,BC003090,BC036499,BC080617,BF979628,BG721393,BQ716842,CR456994,CR593384,CR593683,CR594862,CR595044,CR595867,CR601867,CR605123,CR607837,CR611203,CR612357,CR613293,CR619073,CR621907,CR624139,CR624288,CR625642,U51205 NP_937832,NP_006701,AAY14978,EAW71097,EAW71098,EAW71099,EAW71100,BAF82580,BAG57420,BAG36228,AAH03090,AAH36499,AAH80617,CAG33275,AAB38529,Q53QS9,Q99627,ADQ33162 Hs.531713 COP9|CSN8|MGC1297|MGC43256|SGN8 COP9 homolog|COP9 signalosome complex subunit 8|JAB1-containing signalosome subunit 8|OTTHUMP00000202910|OTTHUMP00000202913|hCOP9|signalosome subunit 8 protein-coding 1314607 COPZ1 coatomer protein complex, subunit zeta 1 17207965,16956762,11056392,11031247,11030615,8533093,8599108,15489334,12477932,11042152,10810093,9373149,8125298,9482852,14729954,8858162 22818 NM_016057,AC078778,CH471054,AB047848,AF086911,AF151878,AF161529,AK025956,AK026190,AK223188,AK293377,AK295325,AK311027,BC002849,CR591000,CR599796,CR603014,CR605663,CR606668,CR608414,CR611806,CR611900,CR613095,CR613225,CR617085,CR617157,CR618156,CR619496,CR622541,CR623216,CR624831 NP_057141,EAW96774,EAW96775,BAB17659,AAP97141,ADQ32844,AAD34115,AAF29144,BAD96908,BAG56889,BAG58302,AAH02849,P61923,Q53FU3 Hs.505652 CGI-120|COPZ|zeta1-COP coatomer subunit zeta-1|zeta-1 COP|zeta-1-coat protein protein-coding 1315851 COPZ2 coatomer protein complex, subunit zeta 2 This gene encodes a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. This gene is similar to a related family member, and the two encoded proteins form distinct isotypes of the coatomer protein complex. [provided by RefSeq] 1580863 11056392,19167404,15489334,14729954,12477932,10982407,8940050,10921873 51226 NM_016429,AC004477,CH471109,AB037938,AB047849,BC015924,BQ576336 NP_057513,EAW94769,BAA90670,BAB17660,AAH15924,Q9P299,ABM83979,ABM87300 Hs.408434 MGC23008 coatomer subunit zeta-2|nonclathrin coat protein zeta-COP|zeta-2 COP|zeta-2 coat protein|zeta-2-coat protein|zeta2-COP protein-coding 1602309 COQ10A coenzyme Q10 homolog A (S. cerevisiae) 16344560,15489334,14702039,12975309,12477932,20877624,19891963 93058 NM_144576,NM_001099337,AC073896,CH471054,CS300593,AK057003,AK057014,AY358861,BC002435,BC026922,BC047444,BC073923,CR591134,CR592454,CR594850,CR600865,CR618951,CR623374,CR626666,DB271789 NP_653177,NP_001092807,EAW96920,EAW96921,EAW96922,CAK32257,BAB71339,BAB71344,AAQ89220,AAH02435,AAH26922,AAH47444,AAH73923,Q8TAL2,Q96MF6 Hs.4096 FLJ32452 coenzyme Q-binding protein COQ10 homolog A, mitochondrial protein-coding 1604595 COQ10B coenzyme Q10 homolog B (S. cerevisiae) 17207965,20877624,15489334,14702039,12477932 80219 NM_025147,AC010746,CH471063,AK023510,AK294093,AK308977,BC022453 ADQ32649,NP_079423,EAW70147,BAB14593,BAH11670,AAH22453,Q9H8M1 Hs.723979 FLJ13448 OTTHUMP00000205703|OTTHUMP00000205704|coenzyme Q-binding protein COQ10 homolog B, mitochondrial protein-coding 1603662 COQ2 coenzyme Q2 homolog, prenyltransferase (yeast) CoQ (ubiquinone) serves as a redox carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant. COQ2, or parahydroxybenzoate-polyprenyltransferase (EC 2.5.1.39), catalyzes one of the final reactions in the biosynthesis of CoQ, the prenylation of parahydroxybenzoate with an all-trans polyprenyl group (Forsgren et al., 2004 [PubMed 15153069]).[supplied by OMIM] 14702039,17510911,18230681,19096106,20507940,15153069,17855635,17376224,17374725,17332895,16873928,16643834,16400613,15905035,15489334,12477932,10737800,20877624 27235 AK023076,BM126596,NG_015825,NM_015697,AC114781,CH471057,AF091086,AJ621061,AK129583,AK300972,BC008804,BC020728,BC116454,BG699931,BQ363759,CR456860,CR597797,CR598020,CR604430 NP_056512,EAX05927,EAX05928,EAX05929,EAX05930,AAC72955,CAF18241,BAG62595,AAH08804,AAH20728,AAI16455,CAG33141,Q96H96,ABM86854,ABW03831 Hs.144304 CL640|FLJ13014|FLJ26072 COQ2 homolog|OTTHUMP00000219805|OTTHUMP00000219807|PHB:polyprenyltransferase|hCOQ2|para-hydroxybenzoate--polyprenyltransferase, mitochondrial|para-hydroxybenzoate-polyprenyltransferase, mitochondrial protein-coding 732708 COQ3 coenzyme Q3 homolog, methyltransferase (S. cerevisiae) Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM] 1580863 17207965,20877624,16712791,10777520,19161160,15489334,14702039,12477932,11230166 51805 NM_017421,AL513550,CH471051,AF193016,AF351615,AK056955,AL136726,BC001534,BC015634,BC063463,CB128192,CR598978,CR607786 ADQ32547,NP_059117,CAI17191,CAI17193,EAW48482,AAF66826,AAN76515,BAG51832,CAB66660,AAH15634,AAH63463,Q9NZJ6 Hs.713623 DHHBMT|DHHBMTASE|UG0215E05|bA9819.1 3,4-dihydroxy-5-hexaprenylbenzoate methyltransferase|DHHB methyltransferase|DHHB-MT|DHHB-MTase|dihydroxyhexaprenylbenzoate methyltransferase|hexaprenyldihydroxybenzoate methyltransferase, mitochondrial|methyltransferase COQ3 protein-coding 1312192 COQ4 coenzyme Q4 homolog (S. cerevisiae) Coenzyme Q (CoQ) is a small lipophilic molecule that transports electrons between mitochondrial respiratory chain complexes and functions as a cofactor for mitochondrial enzymes. COQ4 is an enzyme involved in CoQ biosynthesis (Casarin et al., 2008 [PubMed 18474229]).[supplied by OMIM] 1580863 20877624,18474229,16381901,15489336,15489334,12477932,11469793,11256614,11076863,10810093 51117 NM_016035,CH471090,AF151850,AK025376,AK126646,AK301333,AK313650,BC011895,BC036603,CR594347,CR601285,CR602433,CR607746,CR616941,CX787359,EU216419,EU216420,EU216421,AL359091,EU216422,EU216423,HC894907 NP_057119,CAI13486,CAI13487,EAW87774,EAW87775,EAW87776,EAW87777,EAW87778,AAD34087,BAG62881,BAG36405,AAH11895,ABW91141,ABW91142,ABW91143,ABW91144,ABW91145,Q9Y3A0,CAL37535,CBN61894 Hs.98541 CGI-92 coenzyme Q biosynthesis protein 4 homolog|coenzyme q4 homolog (yeast)|ubiquinone biosynthesis protein COQ4 homolog, mitochondrial protein-coding 1604266 COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 15489334,15342556,14702039,12477932,9373149,8125298,20877624 84274 AC063943,CH471054,NM_032314,AK057777,AK222610,AK225242,AK293656,AK298214,AK315681,BC004916,BC107874,BP307378,BX647562,CR591293,CR595710,CR596271,CR600322,CR601281,CR602489,CR607035,CR608167,CR612918,CR619690,CR625099,EU700459 NP_115690,EAW98198,EAW98199,BAB71567,BAD96330,BAG57105,BAG60484,BAG38046,AAH04916,AAI07875,CAI46073,ACD75052,Q5HYK3 Hs.17250 MGC104303|MGC4767 ubiquinone biosynthesis methyltransferase COQ5, mitochondrial protein-coding 1322454 COQ6 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) 1580863 11256614,15489334,12477932,10810093,9373149,8125298,16169070,20877624 51004 NM_182476,AC005480,CH471061,AF132944,AK130167,AK222965,AK295517,AK296040,AK303304,AK307306,AL521052,AL557147,BC014181,BC014483,BX248000,BX648434,CR609198,CR610307,NM_182480,CR618016,CR622209,CR626826,HC890003 NP_872286,NP_872282,EAW81146,EAW81147,EAW81148,AAD27719,BAD96685,BAH12093,BAH12244,BAH13935,AAH14181,AAH14483,CAD62332,Q86U30,Q9Y2Z9,ABM83561,ABM86799,CBN59492 Hs.131555 CGI-10 coenzyme q6 homolog (yeast)|ubiquinone biosynthesis monooxygenase COQ6 protein-coding 737189 COQ7 coenzyme Q7 homolog, ubiquinone (yeast) The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Transcript variants have been described for this gene, but their full-length sequences have not been determined. [provided by RefSeq] 1580863,2313649 10501970,11256614,18927074,16381901,15489336,14702039,12477932,11749961,11511092,11435415,11230166,11076863,10373327,10373325,9452453,9373149,9020081,8125298,20800603,20877624,19135146 2313649 10229 NM_016138,AC099518,CH471186,AF032900,AF098948,AF374413,AI279093,AK024291,AK225115,AK315470,AL136647,BC003185,BC043272,CR621671,U81276,AI424412,NM_001190983 NP_057222,EAW50268,EAW50269,EAW50270,EAW50271,AAC69451,AAD43648,AAM21346,BAB14876,BAG37856,CAB66582,AAH03185,AAH43272,AAC51120,Q49A71,Q8NI45,Q99807,CAL37929,CAL38398,NP_001177912 Hs.157113 CAT5|CLK-1|CLK1 COQ7 coenzyme Q, 7 homolog ubiquinone|coenzyme Q biosynthesis protein 7 homolog|placental protein KG-20|timing protein clk-1 homolog|ubiquinone biosynthesis protein COQ7 homolog protein-coding 1603980 COQ9 coenzyme Q9 homolog (S. cerevisiae) Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain. COQ9 is 1 of several enzymes involved in biosynthesis of CoQ10 and likely functions in modification of the benzoquinone ring (Duncan et al., 2009 [PubMed 19375058]).[supplied by OMIM] 16169070,17207965,20877624,10493829,19375058,16303743,15489334,12477932,11230166,11042152,8889548 57017 AC004382,AC009052,CH471092,AF161444,AK075438,AK290627,AK293585,AK295793,AK303527,AL136884,BC001478,BC029341,BC054340,BC064946,NM_020312,BM680448,DB513313,CR592593,CR593599,CR598682,CR604347,CR604814,CR605075,CR606389,CR612234,CR613497,CR621368,CR622199,CR623615,CR626697,BM712215,BM717991,DB562540,NG_027696 ADQ32578,NP_064708,AAC24313,EAW82928,EAW82931,AAF29004,BAC11621,BAF83316,BAG57054,BAG58614,BAG64555,CAB66818,AAH01478,AAH54340,AAH64946,O75208,ACE87678,ACE86989 Hs.513632 C16orf49|DKFZp434K046 ubiquinone biosynthesis protein COQ9, mitochondrial protein-coding 1347529 CORD1 cone rod dystrophy 1 (autosomal dominant) 1867279 1319 1342626 CORD4 cone rod dystrophy 4 8508343 1321 1345844 CORD5 cone rod dystrophy 5 8586428 1322 1352709 CORD7 cone rod dystrophy 7 9634506 1324 1347512 CORD8 cone rod dystrophy 8 54109 1350915 CORD9 cone rod dystrophy 9 60424 1343750 CORIN corin, serine peptidase This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. [provided by RefSeq] 1581217,1581218,1581219,1626338,1580863 19913121,20628086,10880574,10329693,19326473,18669922,17890485,20802129,17660514,17296875,16216958,15489334,15192093,14559895,12477932,12154094,11884416,11082206,19919978,20613715 1581217,1581218,1581219,1626338 10699 AC092597,AC104646,AC107068,AF521006,CH471069,AF113248,AF133845,AI872582,AK297675,AK302816,AK304038,AK304466,BC110451,NM_006587,BX648285,EU326305 NP_006578,AAY40991,AAY40917,AAN40016,EAW93038,EAW93039,AAF21966,AAD31850,BAH12647,BAG64015,BAG64949,BAG65281,AAI10452,Q8IZR7,Q9Y5Q5,ACA05911 Hs.518618 ATC2|CRN|Lrp4|MGC119742|TMPRSS10 OTTHUMP00000218702|OTTHUMP00000218703|OTTHUMP00000218704|OTTHUMP00000218705|OTTHUMP00000218706|atrial natriuretic peptide-converting enzyme|atrial natriuteric peptide-converting enzyme|corin, serine protease|heart specific serine proteinase|heart-specific serine proteinase ATC2|pro-ANP-convertase|pro-ANP-converting enzyme|transmembrane protease serine 10 protein-coding 732928 CORO1A coronin, actin binding protein, 1A 1580863 7758584,15601263,11094157,9365277,17341475,17442961,12132654,15800061,18836449,18693254,17353931,19454722,16467882,16040207,15489334,15203218,14702039,12673016,12477932,10749676,10338208,9778037,1286667,16344560 11151 NG_023415,NM_001193333,NG_005305,AC012645,CH471238,AF495470,AK096332,AK097964,AK123401,AK296207,AK314714,BC110374,BC126385,BC126387,NM_007074,CD623635,CR590955,CR592353,CR592681,CR593420,CR593972,CR593974,CR594078,CR600248,CR601300,CR609078,CR611130,CR611796,CR614308,CR615461,CR617286,CR618041,CR618140,CR618690,CR618749,CR619593,CR620817,CR622218,CR626055,D44497,U34690,X89109,AB209221,DA256300,DC408372 NP_001180262,ADR83161,NP_009005,EAW79906,EAW79907,EAW79908,EAW79909,EAW79910,AAM18516,BAC85606,BAG58933,BAG37258,AAI10375,AAI26386,AAI26388,BAA07940,AAA77058,CAA61482,P31146,Q59G88,Q6ZW98,BAD92458,ABZ92302 Hs.415067 CLABP|CLIPINA|FLJ41407|HCORO1|MGC117380|TACO|p57 clipin-A|coronin, actin binding protein 1a|coronin, actin-binding protein, 1A|coronin, actin-binding, 1A|coronin-1|coronin-1A|coronin-like protein A|coronin-like protein p57|tryptophan aspartate-containing coat protein protein-coding 736068 CORO1B coronin, actin binding protein, 1B Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM] 1580863 17350576,16027158,15489334,12477932,9915840,9778037 57175 NM_020441,AP003419,CH471076,AK000860,AK295782,AK309267,AK315399,AL162072,BC006449,BI767141,CR589992,CR591748,CR592037,NM_001018070,CR598622,CR603235,CR604673,CR604867,CR604899,CR605530,CR610724,CR612430,CR613163,CR615750,CR615962,CR616449,CR621943,CR626258,CR596082 NP_001018080,NP_065174,EAW74623,EAW74624,EAW74625,EAW74626,BAG58604,BAG37792,CAB82408,AAH06449,Q59F81,Q9BR76,Q9NSK3,ABM84323,ABM87717 Hs.6191 CORONIN-2|DKFZp762I166 coronin, actin-binding protein, 1B|coronin-1B protein-coding 1314425 CORO1C coronin, actin binding protein, 1C This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq] 1580863 17207965,20678442,9778037,17274980,15592455,15489334,14702039,12477932,12377779,10828594,10461187,9373149,8175911,8125298,20690162,19423540,19615732,19651142,19913511,20406964,20438785 23603 NM_014325,AC007569,CH471054,AB030656,AB209909,AK023205,AK096363,AK223073,AK297463,AK304839,AK311315,AK316065,AK316504,AL162070,AM849477,AM849478,BC002342,CR604990,CR614860,CR616176,CR625590,CR626655,Z24726 ADQ32418,NP_055140,EAW97826,EAW97827,EAW97828,EAW97829,BAA83077,BAD93146,BAG51168,BAG53274,BAD96793,BAG59885,BAG65582,BAH14436,BAH14875,CAB82406,CAO94662,CAO94663,AAH02342,Q53G58,Q59EA2,Q9ULV4 Hs.330384 HCRNN4 coronin 1C|coronin, actin-binding protein, 1C|coronin-1C|coronin-3 protein-coding 1320210 CORO2A coronin, actin binding protein, 2A This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863 19654210,20526340,12628926,12477932,10231032,8889548,8985118,16341674,15489334,14527417 7464 NM_052820,NM_003389,AL137073,CH471105,U57057,U57058,AB209809,AK292788,BC000010,BC011690,BM822208,BM976925,BX648086,DB459852 NP_438171,NP_003380,CAI13893,EAW58879,EAW58880,EAW58881,AAB47807,AAB47808,BAD93046,BAF85477,AAH00010,AAH11690,Q59EK2,Q92828,ABM82671,ABW03440 Hs.113094 CLIPINB|DKFZp686G19226|IR10|WDR2 WD protein IR10|WD repeat-containing protein 2|WD-repeat protein 2|coronin 2A|coronin, actin-binding protein, 2A|coronin-2A|coronin-like protein B protein-coding 1352370 CORO2B coronin, actin binding protein, 2B 1580863 10224093,16344560,15489334,12477932,10231032,16169070,19734545,20379614 10391 NM_006091,AC090734,AC105014,CH471082,AB010098,AB023142,AI871484,AK124711,AK289678,BC026335,CR609225,DA182763,DA128408,DA291058,NM_001190456,NM_001190457 NP_006082,EAW77822,EAW77823,BAA36341,BAA76769,BAG54076,BAF82367,AAH26335,Q9UQ03,ABM83020,ABM83285,ABM86492,NP_001177385,NP_001177386 Hs.551213 CLIPINC|KIAA0925 clipin C|clipin-C|coronin, actin-binding protein, 2B|coronin, actin-binding, 2B|coronin-2B|coronin-like protein C protein-coding 1354094 CORO6 coronin 6 16625196,15498874,15489334,14702039,12665801,12477932,10737800 84940 NM_032854,AC104564,CH471159,AF193039,AF447884,AF447885,AK027777,AK092430,AK094683,AK096431,AL833952,AY545070,BC028205,BC048209,BC064514,BF368858,CR619380,BI758263 NP_116243,EAW51204,EAW51205,EAW51206,EAW51207,EAW51208,AAG22467,AAQ04659,AAQ04660,BAB55360,BAG52551,BAG52911,BAG53288,AAS48630,AAH64514,Q6QEF8 Hs.143046 FLJ14871 OTTHUMP00000163609|clipin-E|coronin, actin binding protein 6|coronin-6|coronin-like protein E protein-coding 1351326 CORO7 coronin 7 Coronins, such as CORO7, constitute an evolutionarily conserved family of WD-repeat actin-binding proteins. CORO7 plays a role in Golgi complex morphology and function (Rybakin et al., 2004, 2006 [PubMed 15327992] [PubMed 16905771]).[supplied by OMIM] 1580863 20379614,18581049,16905771,16344560,15327992,14702039,12477932,8889548 79585 NM_024535,AC012676,CH471112,AK025674,AK094596,AK097238,AK126176,AK294045,AK296723,AK296807,AK303353,AK309327,AK309763,BC117289,BC117291,BM671637,DA094935,DR155527,NM_001201472,NM_001201473 NP_078811,EAW85307,BAB15211,BAG52896,BAG53439,BAG57397,BAG59311,BAG59380,BAG64414,AAI17290,AAI17292,P57737,NP_001188401,NP_001188402,ADR83427 Hs.437957 0610011B16Rik|CRN7|FLJ22021|FLJ44188|POD1 70 kDa WD repeat tumor rejection antigen homolog|coronin-7 protein-coding 1350081 CORS2 cerebello-oculo-renal syndrome 2 12917796,12908130 373067 736209 CORT cortistatin The product of this gene is a neuropeptide with strong structural similarity to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. [provided by RefSeq] 1580863 12975309,12684217,12519865,12477932,12161511,11329013,11227737,11011067,10894940,10461921,9205124,8889548,12915402,9125122,19086053,18709137,18450367,16043736,14669820,20164562,20398908 1325 BF590359,NM_001302,AL354956,CH471130,AB000263,AF013252,AF086433,AV750349,AW205880,AY358561,BC040034,BC119724,BC119725 NP_001293,CAI19195,EAW71650,BAA19770,AAB66895,AAQ89950,AAH40034,AAI19725,AAI19726,O00230,Q8IUV6 Hs.412311 CST-14|CST-17|CST-29 cortistatin|cortistatin-14|cortistatin-17|cortistatin-29|preprocortistatin protein-coding 1313560 COTL1 coactosin-like 1 (Dictyostelium) This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq] 1580863 19807693,11583571,11297527,19307756,17070122,16924104,16097034,15583396,15489334,15459340,15333945,15213466,14702039,12665801,12477932,11870627,10051563,9326934,7690594 23406 CR597761,CR599718,CR605336,CR605405,CR607041,CR607170,CR607521,CR608974,CR609303,CR610464,CR613284,CR613492,CR615099,CR617231,CR617301,CR618340,CR618620,CR618782,CR619569,CR621975,CR623661,CR624944,CR625832,CR626063,CR626081,L08436,L54057,CR597114,NM_021149,AC022165,AC092145,CH471114,AK026033,AK093712,AK125645,AK127352,AK315675,BC010039,BC010884,BC016702,BC020445,BC042970,BC053682,BT006968,CR593288,CR593806,CR594052,CR594358 AAA88022,Q14019,ACE87075,NP_066972,EAW95475,EAW95476,EAW95477,BAG38040,AAH10039,AAH10884,AAH16702,AAH42970,AAH53682,AAP35614 Hs.289092 CLP|FLJ43657|MGC19733 coactosin-like protein protein-coding 1345793 COTL1P2 coactosin-like 1 (Dictyostelium) pseudogene 2 11997339 347720 NG_002773,AC015818 CLPSMCR pseudo 1321106 COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq] 1580863 20877624,20498629,12928484,14607829,17192483,16344560,15489334,15455402,12477932,11959398,10767350,9787083,9403059,9285799,9177788,8889548,8078902,19826901,20049701 1352 NM_001303,NG_008034,AC005224,AC005389,CH471108,U82004,U82010,AK294213,AK295925,AK312718,BC000060,BC006394,BQ184586,BT006985,DA200545,U09466 NP_001294,EAW89956,EAW89957,AAC51330,BAG57522,BAG58712,BAG35592,AAH00060,AAH06394,AAP35631,AAA21148,Q12887,ABM84530,ABM85999 Hs.462278 cytochrome c oxidase assembly protein|cytochrome c oxidase subunit X|heme A: farnesyltransferase|heme O synthase|protoheme IX farnesyltransferase, mitochondrial protein-coding 1320366 COX11 COX11 homolog, cytochrome c oxidase assembly protein (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq] 1300048,1580863 20601676,9878253,19330027,15489334,12477932,10617659,20877624,9110174,8889548,8619474 1353 BM975167,CR541837,CR600874,CR617036,CR620872,CR625857,U79270,W33157,NM_001162861,NM_001162862,NR_027941,NR_027942,AC007485,AC090824,CH471109,AF044321,AI500638,AI828544,AK124809,AK293851,AK295381,BC005895,BI598312,NM_004375 CAG46636,AAB50214,Q9Y6N1,ABM84062,ABM87417,NP_004366,NP_001156333,NP_001156334,EAW94547,EAW94548,EAW94549,EAW94550,AAD08645,BAG57249,BAG58338,AAH05895 Hs.591171 COX11P COX11 homolog, cytochrome c oxidase assembly protein|cytochrome c oxidase assembly protein COX11, mitochondrial|cytochrome c oxidase subunit 11 protein-coding 1344168 COX11P COX11 homolog, cytochrome c oxidase assembly protein (yeast) pseudogene 9878253 140468 NG_007347,AF044322,Z98745 COX11|COX11P pseudo 1323821 COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq] 1300048,1598467,1598468 20562859,9878253,12474143,17945021,16344560,15489334,15235026,12477932,11248251,2175025,19826901,20049701,20877624 1598467,1598468 1355 NM_078470,NM_004376,NG_008986,AL133353,CH471066,AF026850,AF044323,AK291654,AK298864,BC002382,BC013403,BC078161,BT007129,BX413913,BX537557,CR597483,CR605537,CR608747,DB094258 NP_510870,NP_004367,CAB88197,CAB88198,EAW49857,EAW49858,AAD08639,AAD08646,BAF84343,BAG60984,AAH02382,AAH13403,AAH78161,AAP35793,CAD97781,Q7KZN9,ABM81636,ABM84818 Hs.28326 cytochrome c oxidase assembly protein COX15 homolog|cytochrome c oxidase subunit 15 protein-coding 1321882 COX16 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) 17207965,20877624,16341674,15596615,15489334,12477932,11042152 51241 NM_016468,AL356804,CH471061,AF151037,AF226729,AK290743,BC001702,BM799209,CR457199,CR594391,CR603105,FJ460510,FJ460511 ADQ33208,NP_057552,EAW81031,AAF36123,AAG09730,BAF83432,AAH01702,CAG33480,ACJ76681,ACJ76682,Q9P0S2 Hs.709581 C14orf112|HSPC203 cytochrome c oxidase assembly factor|cytochrome c oxidase assembly protein COX16 homolog, mitochondrial protein-coding 733581 COX17 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. 1300048,1580863 19393246,9050918,18458339,17672825,17208454,16806233,16520371,16189514,16169070,15893662,15504366,15489334,14702039,14612491,12477932,11170391,11054125,11027508,10982038,17207965,20877624 10063 AC023494,AF269243,AF269244,AF269245,CH471052,AK054900,AK095366,AK312143,BC010933,BC105280,BC108317,NM_005694,L77701 AAI08318,NP_005685,AAF82569,EAW79545,EAW79547,EAW79548,EAW79550,EAW79551,BAG35079,AAH10933,AAI05281,AAA98114,Q14061,ADQ32807 Hs.534383 MGC104397|MGC117386 OTTHUMP00000215284|OTTHUMP00000215285|cytochrome c oxidase copper chaperone|cytochrome c oxidase, subunit xvii assembly protein homolog (yeast)|human homolog of yeast mitochondrial copper recruitment protein-coding 1626594 COX17P COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) pseudogene 17672825,10982038 81993 NG_001293,AF272832,AL138686 COX17P pseudo 1604709 COX18 COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) COX18 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox18 protein catalyzes the insertion of the Cox2 (MTCO2; MIM 516040) C-terminal tail into the mitochondrial inner membrane, an intermediate step in the assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM] 16911509,16212937,15489334,14702039,12477932,20819778,20877624,19373256,20200953,20379614 285521 NM_173827,AC095053,CH471057,AK092641,AK096310,AM055750,AM055751,AM055752,AY957564,AY957565,BC071812,BC101684,BC143642 NP_776188,EAX05653,BAC04758,CAJ20055,CAJ20056,CAJ20057,AAY35060,AAY35061,AAH71812,AAI01685,AAI43643,Q8N8Q8 Hs.356697 COX18HS|FLJ38991|MGC126733 Cox18Hs1 protein|Cox18Hs2 protein|Cox18Hs3 protein|cytochrome c oxidase assembly protein 18|mitochondrial COX18|mitochondrial inner membrane protein COX18 protein-coding 1604553 COX19 COX19 cytochrome c oxidase assembly homolog (S. cerevisiae) COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM] 16344560,16212937,15596615,15489334,14702039,12477932,18029348 90639 NM_001031617,AC073957,CH236965,CH471144,AA437231,AK023185,AY957566,BC042434,BC053372,BC058158,BC070383,BC103632,BC110420,DB077585 NP_001026788,EAW87185,AAY35062,AAH70383,AAI03633,AAI10421,Q49B96 Hs.121593 MGC104475 cytochrome c oxidase assembly protein COX19|hCOX19 protein-coding 68539 COX4I1 cytochrome c oxidase subunit IV isoform 1 Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. [provided by RefSeq] 1300048,2301376,1580863 2157630,20307258,17353931,18029348,17418790,15489334,14607829,12477932,11311561,10878243,10337626,8619474,8223633,2444497,2162812,1319058,1311608,19843159,20877624 2301376 1327 NM_001861,AC018695,AF005889,AF017115,AF042746,CH471114,AK311847,BC008704,BC021236,BC039013,BC047869,BC062437,BT019825,CR590992,CR591678,CR592979,CR596828,M21575,M34600,U90915,X54802 NP_001852,AAB94819,AAC99578,AAB97750,EAW95436,EAW95437,EAW95438,BAG34789,AAH08704,AAH21236,AAH47869,AAH62437,AAV38628,AAA99312,AAA52059,AAB51058,CAA38573,P13073,Q6P666,Q86WV2,ABM84088,ABM87458 Hs.433419 COX4|COX4-1|COXIV|MGC72016 COX IV-1|cytochrome c oxidase polypeptide IV|cytochrome c oxidase subunit 4 isoform 1, mitochondrial|cytochrome c oxidase, subunit 4a protein-coding 1344638 COX4I1P1 cytochrome c oxidase subunit IV isoform 1 pseudogene 1 1328,122867 AL137918,NG_017086 COX4L1|COX4P1 pseudo 3340338 COX4I1P2 cytochrome c oxidase subunit IV isoform 1 pseudogene 2 652170 AL139320,NG_011339 pseudo 735839 COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq] 68709,1300048,2301376,1580863 11311561,11911854,19268275,17937768,17418790,15489334,12477932,11780052,11737208,10683230,8765469,6246917,6088481,2986725,2153405,1309738,19064571,20877624 68709,2301376 84701 NM_032609,NG_012180,AL117381,AY219183,CH471077,AF257180,BC057779,CR594972 NP_115998,CAI23028,EAW76431,AAK49333,AAH57779,Q96KJ9 Hs.277101 COX4|COX4-2|COX4B|COX4L2|COXIV-2|dJ857M17.2 COX IV-2|cytochrome c oxidase subunit 4 isoform 2, mitochondrial|cytochrome c oxidase subunit IV-like 2 protein-coding 1322563 COX4NB COX4 neighbor 1580863 10337626,16189514,15489334,15342556,12477932,19724895,19851296,20198315,20819778 10328 BT007132,CR600560,NM_001142288,AC018695,AF005889,CH471114,AF005888,AK313977,BC001472,BC005886,BC007445,BC020250,BE855452,BP307869,NM_006067 AAP35796,O43402,Q53Y03,NP_006058,NP_001135760,AAB94820,EAW95439,EAW95440,AAB94489,BAG36691,AAH01472,AAH05886,AAH07445,AAH20250 Hs.173162 C16orf2|C16orf4|FAM158B|NOC4 family with sequence similarity 158, member B|neighbor of COX4 protein-coding 732301 COX5A cytochrome c oxidase subunit Va Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq] 1580863 2853101,18197981,14607829,12477932,10072584,8313870,7498159,16169070,17353931,20307258,19834492,15101818,20877624 9377 NM_004255,AC125435,AF067635,CH471136,AI815421,AK026615,AK026623,BC024240,CR407649,DQ987236,DQ987237,M22760 NP_004246,AAC73060,EAW99287,EAW99288,AAH24240,CAG28577,ABK92283,ABK92284,AAA99220,P20674,Q71UP1,ABM84510,ABM87831 Hs.401903 COX|COX-VA|VA cytochrome c oxidase polypeptide Va|cytochrome c oxidase polypeptide, mitochondrial|cytochrome c oxidase subunit 5A, mitochondrial|cytochrome c oxidase, subunit va|mitochondrial cytochrome c oxidase subunit Va protein-coding 1353592 COX5AP1 cytochrome c oxidase subunit Va pseudogene 1 10072584 9385 NG_001220,AF042162,AL158801 pseudo 1350345 COX5AP2 cytochrome c oxidase subunit Va pseudogene 2 319087 NG_002477,AL118557 pseudo 734145 COX5B cytochrome c oxidase subunit Vb Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq] 1300048,2301377,1580863 20877624,1646156,15489334,12477932,11719263,10915781,9030264,8806766,8313870,2840351,2162812,17353931,19851296,20198315,19834492 2301377 1329 NM_001862,AC017099,CH471127,M59250,U41284,BC006229,BT006742,CR541727,CR541753,M19961 NP_001853,AAY24279,EAX01930,AAA52060,AAB19185,AAH06229,AAP35388,CAG46528,CAG46553,AAA52061,P10606,Q53YB7,Q6FHJ9,Q6FHM4,ABM92189,ABW03281 Hs.1342 COXVB cytochrome c oxidase polypeptide VB, mitochondrial|cytochrome c oxidase subunit 5B, mitochondrial protein-coding 1347957 COX5BL1 cytochrome c oxidase subunit Vb-like 1 9847074,1646156 1330 NG_003010,AC021863 COX5BL1 pseudo 1344627 COX5BL2 cytochrome c oxidase subunit Vb-like 2 1331 1353209 COX5BL3 cytochrome c oxidase subunit Vb-like 3 1332 1349774 COX5BL4 cytochrome c oxidase subunit Vb-like 4 1333 1346297 COX5BL5 cytochrome c oxidase subunit Vb-like 5 1334 1342750 COX5BL6 cytochrome c oxidase subunit Vb-like 6 1335,1335 AL359085,NG_027889 COX5BL6|FLJ22153 pseudo 1351554 COX5BL7 cytochrome c oxidase subunit Vb-like 7 1336 NG_002633,AL031846 COX5BL7 pseudo 735899 COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq] 1580863 20307258,2549515,18549809,16541075,15489334,12477932,10773445,9284905,9202413,9190060,1327966,1286669,19843159,8241294,20877624 1337 NM_004373,AL021546,CH471054,U83702,AF020589,AK312009,BC007723,BC070186,BC107861,X15341 NP_004364,CAA16494,EAW98190,EAW98191,AAD00554,AAC98895,BAG34947,AAH07723,AAH70186,AAI07862,CAA33392,O95101,P12074,Q9UEG9,ABM84025,ABM87370 Hs.369624 COX6A|COX6AL|MGC104500 COX VIa-L|cytochrome C oxidase subunit VIa homolog|cytochrome c oxidase polypeptide VIa-liver|cytochrome c oxidase subunit 6A1, mitochondrial|cytochrome c oxidase subunit VIA-liver|cytochrome c oxidase, subunit via, polypeptide 1 protein-coding 1346319 COX6A1P cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 10773445,9284905,9177785 1338 NG_001105,AL596276,U82486 COX6A1P pseudo 2306589 COX6A1P2 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2 9284905,9202413 285849 NG_004806,AL160264 CAI20472,Q5T8I0 pseudo 3077623 COX6A1P3 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3 100287768 AL357513,NG_016160 pseudo 736247 COX6A2 cytochrome c oxidase subunit VIa polypeptide 2 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq] 1300048,1580863 9284905,15489334,12477932,9177785,8681137,1327966,8241294 1339 NM_005205,AC026471,CH471192,U66875,BC029818,F27891,M83308 NP_005196,EAW52137,EAW52138,AAC51328,AAH29818,AAA52062,Q02221,ABM92178,ABM84649 Hs.250760 COX6AH|COXVIAH COX VIa-M|cytochrome c oxidase polypeptide VIa-heart|cytochrome c oxidase subunit 6A2, mitochondrial|cytochrome c oxidase subunit VIA-muscle protein-coding 1343660 COX6B1 cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq] 1580863 2172092,18499082,17516841,15489334,15057824,12477932,11943455,7821789,2537962,1651883,1650756,1647217,17353931,20877624,18029348,19843159 1340 NM_001863,NG_012193,AC002115,X58139,AK312140,BC001015,BC002478,BT006945,CR456789,CR542137,CR600969,D28426,X13923,X54473,DB443544 NP_001854,AAB57628,CAA41147,BAG35076,AAH01015,AAH02478,AAP35591,CAG33070,CAG46934,BAA05792,CAA32114,CAA38352,P14854,ABM84535,ABM86004 Hs.431668 COX6B|COXG|COXVIb1 COX VIb-1|OTTHUMP00000045788|cytochrome c oxidase subunit 6B1 protein-coding 3436160 COX6B1P5 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 5 100289662 AL158068,NG_016561 pseudo 3051012 COX6B1P6 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6 100462851 AF117829,NG_022396 pseudo 3207451 COX6B1P7 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 7 100133210 BX284678,NG_022782 pseudo 1349779 COX6B2 cytochrome c oxidase subunit VIb polypeptide 2 (testis) 737633 12874793,15489334,14702039,12477932,2172092,17207965 737633 125965 NM_144613,AC020922,CH471135,AK057427,AY152398,BC026123,BC064548,BC100899,BC100900,BC100901,BC100902,BG717038 NP_653214,EAW72367,EAW72368,BAB71481,AAN46751,AAH26123,AAI00900,AAI00901,AAI00902,AAI00903,Q6YFQ2,ADQ33087 Hs.550544 COXVIB2|CT59|MGC119094 COX VIb-2|cancer/testis antigen 59|cytochrome c oxidase subunit 6B2|cytochrome c oxidase subunit VIb, testes specific|cytochrome c oxidase subunit VIb, testes-specific|cytochrome c oxidase subunit VIb, testis-specific isoform protein-coding 1351404 COX6BP1 cytochrome c oxidase subunit VIb pseudogene 1 (HCOX52) 1651884,1651883 140603 NG_007348,AC093743,M38259 COX6BP-1|COX6BP1 pseudo 1352312 COX6BP2 cytochrome c oxidase subunit VIb pseudogene 2 1651884,1651883 1342 NG_005205,AC091179,M38260 COX6BP-2|COX6BP2 pseudo 1344500 COX6BP3 cytochrome c oxidase subunit VIb pseudogene 3 1651884 1343 NG_005206,AL031594,M38261,NG_027480 COX6BP-3|COX6BP3 pseudo 1346692 COX6BP4 cytochrome c oxidase subunit VIb pseudogene 4 1651883,1651884,1651883,1651884 1344,100462850 AC091675,NG_026013 COX6BP4 pseudo 736850 COX6C cytochrome c oxidase subunit VIc Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse COX subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene COX6CP1 has been found on chromosomes 16p12. [provided by RefSeq] 1300048,1580863 20877624,2849755,17516841,15489334,12477932,10072584,9930743,9752724,8705997,16169070,17353931,19064571,19843159 1345 NM_004374,AC105328,AF067636,AF067637,CH471060,AK311791,BC000187,BT007007,S82616,X13238 NP_004365,AAC73061,EAW91791,EAW91792,EAW91793,BAG34734,AAH00187,AAP35653,CAA31624,P09669,ABM92159,ABM87796,ACE87217 Hs.351875 cytochrome c oxidase polypeptide VIc|cytochrome c oxidase subunit 6C|cytochrome c oxidase subunit VIc preprotein protein-coding 1343648 COX6CP1 cytochrome c oxidase subunit VIc pseudogene 1 10072584 9384 NG_001219,AC007216,AF042163 pseudo 1352296 COX6CP2 cytochrome c oxidase subunit VIc pseudogene 2 170504 NG_001033,AL034429 dJ894K16.1 pseudo 2312707 COX6CP4 cytochrome c oxidase subunit VIc pseudogene 4 100288892 AC103988,NG_012732 pseudo 1348243 COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq] 1580863 19913121,20628086,1327965,9344674,18488190,15489334,15057824,12477932,11997101,10335655,9752724,2550906,1309697,19843159,20877624 1346 NM_001864,AC002984,AD001527,AF037372,AF127789,U81524,AK312091,BC002757,BT006924,CR542120,M83186 NP_001855,AAB81547,AAB51184,AAB92616,AAF72747,AAB82735,BAG35027,AAH02757,AAP35570,CAG46917,AAA52166,P24310,Q6FGI7,ABM92252,ABM84472,ABM84736,ABW03614,ABW03615,ABW03616 Hs.421621 COX7A|COX7AH|COX7AM OTTHUMP00000045829|cytochrome c oxidase subunit 7A1, mitochondrial|cytochrome c oxidase subunit VIIa heart/muscle isoform|cytochrome c oxidase subunit VIIa-H|cytochrome c oxidase subunit VIIa-M|cytochrome c oxidase subunit VIIa-heart|cytochrome c oxidase subunit VIIa-muscle protein-coding 1342607 COX7A2 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa and the polypeptide 2 is present in both muscle and nonmuscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, present in all tissues. This gene may have several pseudogenes. [provided by RefSeq] 1580863 15489334,14574404,12477932,11004498,9752724,9202413,9202412,2550906,1327965,1309697,19064571,2159420,16712791,20877624 1347 NM_001865,AF134406,AL080250,CH471051,AK312154,BC100852,BC100853,BC100854,BC101826,BC101828,BC133654,CR407646,CR542125,CR610116,X15822,AA978033,CB139775,CK821341,NR_029466 NP_001856,AAF61396,CAI19899,EAW48746,EAW48747,BAG35088,AAI00853,AAI00854,AAI00855,AAI01827,AAI01829,AAI33655,CAG28574,CAG46922,CAA33820,P14406,Q496I0 Hs.70312 COX7AL|COX7AL1|COXVIIAL|COXVIIa-L|MGC118950|MGC118951|MGC118952|MGC126875|MGC126877|VIIAL OTTHUMP00000016749|OTTHUMP00000016750|OTTHUMP00000220651|OTTHUMP00000220652|OTTHUMP00000220653|OTTHUMP00000220654|cytochrome c oxidase polypeptide 7A2, mitochondrial|cytochrome c oxidase polypeptide VIIa-liver/heart|cytochrome c oxidase subunit 7A2, mitochondrial|cytochrome c oxidase subunit VIIa-L|cytochrome c oxidase subunit VIIa-liver/heart|cytochrome c oxidase subunit VIIaL|hepatic cytochrome-c oxidase chain VIIa protein-coding 1314534 COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. [provided by RefSeq] 1300048,1580863 19064571,19834535,9418891,16189514,15489334,14562965,12477932,11156535,10335655,8647836,20307258,14702039,20877624 9167 NM_004718,AB007620,AC006038,AY007643,CH471053,AB007618,AF127788,AK130281,BC005251,BC007095,BT007371,CR542208,CR594885,CR602398,CR606573,CR611087,CR621729,AK092911 NP_004709,AAY15087,AAG32129,EAX00320,EAX00321,EAX00322,EAX00323,BAA22571,AAF72746,AAH05251,AAH07095,AAP36035,CAG47004,O14548,Q6FGA0,ABM92183,ABM84655,BAG52628 Hs.339639 COX7AR|COX7RP|EB1|SIG81 COX7a-related protein|OTTHUMP00000158765|cytochrome c oxidase subunit 7A-related protein, mitochondrial|cytochrome c oxidase subunit VII-related protein|cytochrome c oxidase subunit VIIa-related protein|estrogen receptor binding CpG island protein-coding 1352739 COX7AP1 cytochrome c oxidase subunit VIIa pseudogene 1 9202412,1327965 319098 NG_002479,AL049779 COX7A3P|COX7AP1 pseudo 1347060 COX7AP2 cytochrome c oxidase subunit VIIa pseudogene 2 15815621,1327965 1348 NG_004712,AC004544 AAC12952,O60397 COX7A3|COX7AL|COX7AL2|COX7AP2 pseudo 1344241 COX7B cytochrome c oxidase subunit VIIb Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22, respectively. [provided by RefSeq] 1580863 20307258,8382530,15772651,15489334,12477932,9752724,9660196,8781533,3007143,1309697 1349 Z14244,NM_001866,AL356235,CH471104,AK311879,BC018386,BT009767,CR450332,CR542124 CAA78613,P24311,ABM92161,ABW03273,NP_001857,CAH70525,EAW98607,BAG34820,AAH18386,AAP88769,CAG29328,CAG46921 Hs.522699 cytochrome c oxidase polypeptide VIIb|cytochrome c oxidase subunit 7B, mitochondrial|cytochrome-c oxidase chain VIIb protein-coding 1353874 COX7B2 cytochrome c oxidase subunit VIIb2 1580863 17207965,15623157,15489334,12477932,19064571 170712 NM_130902,AC107383,AC108931,CH471069,AF125109,BC035923,BC107855,DB447854 ADQ32957,NP_570972,EAW93028,AAL75946,AAH35923,AAI07856,Q8TF08 Hs.479656 MGC102754 OTTHUMP00000195111|OTTHUMP00000218444|cytochrome c oxidase polypeptide VIIb2|cytochrome c oxidase subunit 7B2, mitochondrial protein-coding 1343507 COX7BP1 cytochrome c oxidase subunit VIIb pseudogene 1 114657 NG_001300,AF042164 bK714B7.1 pseudo 1344114 COX7BP2 cytochrome c oxidase subunit VIIb pseudogene 2 140692 NG_005370,AL078461 dJ901O8.2 pseudo 1353652 COX7C cytochrome c oxidase subunit VIIc Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq] 1580863 2155413,17516841,15489334,12477932,10072584,9752724,7926688,1309697 1350 NM_001867,AC108110,AF067638,AF067639,CH471084,AK026505,BC001005,BC007498,BT007098,X16560 NP_001858,AAC73062,EAW95922,EAW95923,EAW95924,AAH01005,AAH07498,AAP35762,CAA34559,P15954,ABM82281,ABM85462 Hs.430075 OTTHUMP00000222397|cytochrome c oxidase polypeptide VIIc|cytochrome c oxidase subunit 7C, mitochondrial|cytochrome-c oxidase chain VIIc protein-coding 1351845 COX7CP1 cytochrome c oxidase subunit VIIc pseudogene 1 10072584 9386 NG_001221,AL137000,AF042165 pseudo 1348555 COX8A cytochrome c oxidase subunit 8A (ubiquitous) The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq] 1580863 2543673,15489334,12909344,12477932,10637443,2847943,20877624 1351 NM_004074,AP000721,CH471076,J04823,AK311934,BC000501,BC063025,BT009803,CR407687,CR609784 NP_004065,EAW74186,AAA99313,BAG34875,AAH63025,AAP88805,CAG28615,P10176,Q53XN1 Hs.433901 COX|COX8|COX8-2|COX8L|VIII|VIII-L cytochrome c oxidase polypeptide VIII-liver/heart|cytochrome c oxidase subunit 8-2|cytochrome c oxidase subunit 8A (ubiquitous)|cytochrome c oxidase subunit 8A, mitochondrial|cytochrome c oxidase subunit VIII protein-coding 1354273 COX8B cytochrome c oxidase, subunit 8B pseudogene Cytochrome c oxidase is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. In addition a number of cytochrome c oxidase subunit pseudogenes have been found. This gene represents a subunit which has been inactivated by mutation and is nonfunctional in humans. 724423,1599987,2301397 12909344,12716970,18085818 724423,1599987,2301397 404544 NG_003253,AC136475 COX8-1|COX8BP|COX8H pseudo 1344927 COX8C cytochrome c oxidase subunit 8C 724423,1580863 12762575,15489334,12909344,12477932,20877624 724423 341947 NM_182971,AL122023,CH471061,AY161004,BC101125,BC101126 NP_892016,EAW81530,AAO26193,AAI01126,AAI01127,Q7Z4L0 Hs.666459 COX8-3|MGC119774|MGC119775 COX VIII-3|cytochrome c oxidase polypeptide 8|cytochrome c oxidase polypeptide VIII|cytochrome c oxidase subunit 8-3|cytochrome c oxidase subunit 8C, mitochondrial|cytochrome c oxidase subunit VIII protein-coding 736782 CP ceruloplasmin (ferroxidase) The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. [provided by RefSeq] 2314684,2314686,2314687,2314688,2314689,2314681,2314682,2314685,1599626,1599198,1599627,1358523,1580863 20587610,7708681,9445478,14718574,19471883,19382692,19228837,19164917,19095659,19031316,19019832,18977241,18952589,18679377,18388036,18311828,18307039,18293024,18200628,18187043,18060472,18022819,17991445,17965133,17688883,17661447,17637479,17601350,17597152,17404760,17032174,17013908,16831606,16775387,16756764,16373913,16335952,16150804,15752613,15741220,15668644,15648851,15557511,15111541,15103512,15084671,14760718,14702039,12952974,12724641,12708132,12575997,12477932,12351628,12177070,12175089,12132593,12107410,12055353,12029093,11908641,11783942,11689010,11681312,11095930,11040994,10666301,10660599,10490627,9788274,9727700,9500710,9360306,9097926,8968753,8789443,8679709,7702601,6987230,6987229,6940148,6582496,6571985,6479854,6337857,3755405,3486416,3474786,2873574,2355023,2332446,20655381,19821764,21109502,463490,146197,15479637,2105310,1463466,19681912,2154449,20658982,19159062,19585161,19648144,19670106,19916937,19996109 2314684,2314686,2314687,2314688,2314689,2314681,2314682,2314685,1599626,1599198,1599627,1358523 1356 NG_011800,AC093001,AC131209,AF132978,CH471052,D45045,DQ314867,AK095290,AK291219,AK299272,AK309279,BC039239,BC061702,BC070304,BC094709,BC142714,BC146663,BC146801,BX647327,CA391602,D00025,DC334592,M13536,NM_000096,M13699,X04135,X04136,X04137,X04138,X69706,EU567149 NP_000087,AAF02483,EAW78882,EAW78883,EAW78884,BAA08084,BAA08085,ABC40726,BAG53020,BAF83908,BAH12988,AAH70304,AAI42715,AAI46664,BAA00019,AAA51975,AAA51976,CAA27752,CAA27753,CAA27754,CAA27755,P00450,Q1L857,Q6NSB2,ACB21047 Hs.558314 CP-2 OTTHUMP00000215840|OTTHUMP00000215841|ceruloplasmin protein-coding 1605415 CP110 CP110 protein 11076968,12221128,12852856,16244668,16462731,17681131,19460342,19481458,7790358,20596027,17719545,16275750,18694559,17765674,16964243,16760425,16368877,16344560,15489334,15342556,14654843,12477932,12361598,10493829,9455477 9738 NM_001199022,NM_014711,AC003108,AC012621,CH471186,AB007879,AK300426,BC030223,BC034140,BC036654,BP360952,BY798911,CB066937,CR749255,DA370828,DB504255 NP_001185951,NP_055526,AAC05804,EAW50287,EAW50288,BAA24849,BAG62153,AAH36654,CAH18111,O43303,ABM82192,ABM85380 Hs.279912 Cep110|DKFZp781G1416|KIAA0419 OTTHUMP00000162162|centrosomal protein CP110|centrosomal protein of 110 kDa protein-coding 733563 CPA1 carboxypeptidase A1 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a monomeric pancreatic exopeptidase involved in zymogen inhibition. [provided by RefSeq] 1580863 1417781,2920728,18566513,15489334,12690205,12477932,11920156,8806703,7570003,3455919,2307232,1969228 1357 AC007938,CH236950,CH471070,AK124421,AK131054,AK291493,AK293366,BC005279,BT007313,CR621452,CR626683,X67318,NM_001868 NP_001859,EAL24089,EAW83762,EAW83763,BAF84182,BAG56880,AAH05279,AAP35977,CAA47732,P15085,ABM92182,ABM84654 Hs.2879 CPA OTTHUMP00000212515|OTTHUMP00000212518|carboxypeptidase A1|carboxypeptidase a1 protein-coding 1313664 CPA2 carboxypeptidase A2 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq] 1580863 2920728,19401682,17196978,15489334,15203218,12948494,12538893,12477932,11743734,10860668,10742178,9450539,9384570,8806703,7896805,19817500,20379614 1358 NM_001869,AC024085,CH236950,CH471070,AK293378,BC007009,BC014571,BC015140,BT007403,BX106544,CD613167,U19977 NP_001860,EAL24092,EAW83751,BAG56890,AAH07009,AAH14571,AAH15140,AAP36067,AAA74425,P48052,ABM84737 Hs.490038 carboxypeptidase A2 protein-coding 733833 CPA3 carboxypeptidase A3 (mast cell) Three different forms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a form which is obtained as a binary complex of a procarboxypeptidase A with proproteinase E and functions as a secretory granule metalloexopeptidase. [provided by RefSeq] 734812,1580863 2594780,1629626,2708524,18029348,15489334,14760754,12477932,10383164,7929294,2920728,2443571,1729276,19643669 734812 1359 BC012613,BF508919,BG501260,DR005288,M27717,S40234,NM_001870,AC092979,CH471052,M73720,AK313628 AAH12613,AAA35652,AAB22578,P15088,ABM83731,ABM87051,NP_001861,EAW78902,AAA59568,BAG36388 Hs.646 MC-CPA carboxypeptidase a3|mast cell carboxypeptidase A protein-coding 1345742 CPA4 carboxypeptidase A4 This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq] 1580863 12552318,12477932,10860668,10383164,19245716,16091843,15489334,12975309,12690205,12676894,17207965,20385563 51200 NM_016352,NG_011788,NM_001163446,AC024085,CH236950,CH471070,AF095719,AK290993,AK298550,AK298553,AK299023,AK310933,AY358699,BC052289,BI335735,DC368360 NP_057436,NP_001156918,EAL24091,EAW83752,EAW83753,AAF23230,BAF83682,BAH12812,BAH12813,BAH12930,AAQ89062,AAH52289,Q9UI42,ADQ32909 Hs.93764 CPA3 OTTHUMP00000212509|carboxypeptidase A3|carboxypeptidase A4 protein-coding 1345322 CPA5 carboxypeptidase A5 Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM] 1580863 17207965,16344560,15489334,14702039,12853948,12676894,12477932,11920156,11836249,9546821 93979 NM_001127442,NM_001127441,AC007938,CH236950,CH471070,AF384667,AK093288,AK131191,NM_080385,AK315256,AY155228,AY155229,AY155230,BC039362,BC042996,BC053681,BK000187,DB059130 NP_525124,NP_001120914,NP_001120913,EAL24090,EAW83754,EAW83755,EAW83756,EAW83757,EAW83758,EAW83759,EAW83760,AAL37611,BAC04122,ADQ33032,BAD18389,BAG37675,AAO17155,AAO17156,AAH39362,AAH42996,DAA00035,Q6ZNI6,Q8WXQ8 Hs.567642 FLJ35969 OTTHUMP00000212497|OTTHUMP00000212499|OTTHUMP00000212500|OTTHUMP00000212502|carboxypeptidase A5 protein-coding 1323390 CPA6 carboxypeptidase A6 Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA6, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM] 1580863 20628086,19913121,11836249,18178555,15489334,12477932,12454025,19790060,20379614,20855895 57094 NM_020361,AC011037,AC022861,AC022874,AC027006,AF466284,CH471068,AF221594,AY044833,BC033684,BI756197,BK000188,BP421438,NG_027682 NP_065094,AAM19307,EAW86937,EAW86938,EAW86939,AAF91231,AAK84941,AAH33684,DAA00037,Q8N4T0,ABM82969,ABM86163 Hs.658850 CPAH carboxypeptidase A6|carboxypeptidase B protein-coding 1347044 CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 CPAMD8 belongs to the complement component-3 (C3; MIM 120700)/alpha-2-macroglobulin (A2M; MIM 103950) family of proteins, which are involved in innate immunity and damage control. Complement components recognize and eliminate pathogens by direct binding or by mediating opsonization/phagocytosis and intracellular killing, and A2M is a broad-spectrum protease inhibitor (Li et al., 2004 [PubMed 15177561]).[supplied by OMIM] 1580863 19010793,15342556,15177561,14702039,12477932,11696365,10574462,1335692,19913121,20628086 27151 NM_015692,AC008737,AC020908,CH471106,AB033109,AI670110,AK075099,AK092632,AK124052,AY101765,BC067854,BF726092,BP302427,CA421477 NP_056507,EAW84567,EAW84568,EAW84569,BAA86597,BAC11400,AAM50084,AAH67854,Q6NVW5,Q8IZJ3 Hs.631644,Hs.727790 FLJ42058|FLJ90618|K-CAP|KIAA1283|VIP C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8|OTTHUMP00000164832|alpha-2 macroglobulin family protein VIP protein-coding 1354386 CPAT1 cerebral palsy, ataxic 1 10854109 60502 737246 CPB1 carboxypeptidase B1 (tissue) Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq] 1580863 18558717,17673703,15489334,12477932,12162965,9524066,8322019,7505580,3222247,2920728,2307232,1370825,17398,20379614 1360 AC092979,CH471052,AJ224866,AK313940,BC015338,BI770145,AC024897,NM_001871,BT009910,CR623808,CR749369,M81057 EAW78903,EAW78904,CAA12163,AAH15338,NP_001862,AAP88912,CAH18222,AAA66973,P15086,Q68DJ8,ABM92164,ABM84632 Hs.477891 CPB|DKFZp779K1333|PASP|PCPB OTTHUMP00000215657|OTTHUMP00000215669|carboxypeptidase B|carboxypeptidase b1|pancreas-specific protein|procarboxypeptidase B protein-coding 731734 CPB2 carboxypeptidase B2 (plasma) Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Available sequence data analyses indicate splice variants that encode different isoforms. [provided by RefSeq] 2313646,2313648,2313645,2313641,2313643,1598473,1598476,1598478,1598479,1598474 19913121,20627371,20628086,20729722,1939207,10651877,19526059,19377074,19335449,19298343,19253106,19074424,19061349,19056482,19038242,19017260,19010784,18986391,18974842,18958767,18836720,18774564,18722183,18683146,18674955,18669641,18612536,18563448,18559974,18513211,18480982,18455758,18406001,18396157,18350479,18341631,18252711,18160566,18075282,18063813,18048863,18021301,17855631,17723126,17690487,17673703,17666015,17644733,17636471,17473579,17388801,17327284,17272741,17264944,17138567,17107352,16894472,16540154,16504676,16445295,16441664,16335952,16244771,16123492,15978108,15719893,15692247,15668188,15550029,15543330,15521922,15497025,20237223,20542541,20880845,19368913,20088944,20594598,15224354,15128744,15057823,15025077,15004439,14739223,14717966,14715654,14525995,14517491,12958613,12941043,12876631,15489334,15333035,12871455,12830006,12799375,12645517,12643276,12624641,12595308,12574207,12477932,12368162,12362237,12165290,12087030,12006404,11903334,11786552,11776333,11686324,11686322,11686321,11410415,10777524,10350473,9869166,8975730,8663147,8662763,2920728,1427879,17398,11939578,19195685,19416536,19578796,19699511,19718465,19874466,19895374,19967152,20128871,20216989,20379614,20381197,20447686,20375563,20385790,20490730 2313646,2313648,2313645,2313641,2313643,1598473,1598476,1598478,1598479,1598474 1361 NM_016413,NM_001872,AF080222,AL137141,AL157758,AY714780,CH471075,AA700377,AB011969,AK290829,AV719308,BC007057,BT006936,CR626525,M75106,AF080223 NP_057497,NP_001863,CAI12170,CAI12171,CAI10904,CAI10905,AAT97987,EAX08754,EAX08755,BAA90475,BAF83518,AAH07057,AAP35582,AAA60042,Q96IY4,ABM92184,ABW03279 Hs.512937 CPU|PCPB|TAFI carboxypeptidase B-like protein|carboxypeptidase B2|carboxypeptidase B2 (plasma, carboxypeptidase U)|carboxypeptidase U|plasma carboxypeptidase B|thrombin-activable fibrinolysis inhibitor|thrombin-activatable fibrinolysis inhibitor protein-coding 731463 CPD carboxypeptidase D The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq] 1580863 9064476,17641957,15918796,15489334,12754519,12643288,12477932,12417617,11306718,9815277,9714835,9628828,9490632,9355738,8619474,18535109 1362 NM_001304,AC006050,AC090685,CH471159,AL049339,BC020457,BC045549,BC045624,BC051702,BC054116,CR593812,D85390,U65090,U90914,CA436219,NM_001199775,AK302878,AK316409,AK302497 NP_001295,EAW51227,EAW51228,AAH45549,AAH45624,AAH51702,BAA33370,AAC51775,O75976,NP_001186704,BAH13725,BAH13829,BAH14780 Hs.446079 GP180 carboxypeptidase D|metallocarboxypeptidase D protein-coding 732381 CPE carboxypeptidase E This gene encodes a carboxypeptidase that cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. It is a peripheral membrane protein. The protein specifically binds regulated secretory pathway proteins, including prohormones, but not constitutively secreted proteins. Mutations in this gene are implicated in type II diabetes. [provided by RefSeq] 728242,1626182,1357926,1626183,1626184,1626181,704405,1580863 19913121,20628086,7663508,2334405,9019408,19166515,19120309,19077438,18550819,18501121,18080843,17957445,16169070,15664176,15492986,15489334,14702039,14690244,12530526,12479974,12477932,12417617,12270926,11462236,11375130,11373325,10966857,9815277,9662053,9369230,9275097,9197538,8864828,8770919,8674818,8449522,7790890,7477119,6808517,19491387,19593212,20201924,20379614,20468064 728242,1626182,1357926,1626183,1626184,1626181 1363 NM_001873,AB006898,AC012504,CH471056,AI340177,AK090962,AK127165,AK290996,AK294175,BC033866,BC053612,BM271829,CR594085,X51405 NP_001864,BAA86053,EAX04817,EAX04818,EAX04819,BAG52254,BAG54445,BAF83685,BAG57495,AAH33866,AAH53612,CAA35767,P16870,ABM84248,ABM87636 Hs.75360 CPH|carboxypeptidase E|carboxypeptidase H|enkephalin convertase|prohormone-processing carboxypeptidase 1643249,2289317,2289563 BW135_H,BW379_H,BW441_H protein-coding 1321314 CPEB1 cytoplasmic polyadenylation element binding protein 1 This gene encodes a member of the cytoplasmic polyadenylation element (CPE) binding protein family. This highly conserved protein binds to a specific RNA sequence called the CPE found in the 3' UTR of some mRNAs. Similar proteins in Xenopus and mouse function to induce cytoplasmic polyadenylation of dormant mRNAs with short polyA tails, resulting in their translation. Members of this protein family regulate translation of cyclin B1 during embryonic cell divisions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19161537,19141477,18923137,16344560,15966895,15731006,15489334,14702039,12477932,11433366,11223249,9847074,12629046,20062064,20144904,17207965 64506 NM_001079535,NM_001079533,NM_001079534,AC010724,AC105339,AC110291,CH471188,AF329402,AF329403,AK023265,NM_030594,AK294280,AK300105,AK301728,AL832156,BC035348,BC050629,BX649159,CR591339,DA340952,DA705313 NP_085097,NP_001073003,NP_001073001,NP_001073002,EAW62448,EAW62449,EAW62450,EAW62451,EAW62452,AAK01239,AAK01240,BAH11723,BAH13212,BAG63194,AAH35348,AAH50629,Q9BZB8,BAB14496,ADQ32841 Hs.547988 CEBP|CPE-BP1|CPEB|FLJ13203|MGC34136|MGC60106 CPE-binding protein 1|cytoplasmic polyadenylation element-binding protein 1|h-CEBP|hCPEB-1 protein-coding 1316707 CPEB2 cytoplasmic polyadenylation element binding protein 2 The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. 15489334,14702039,12672660,12477932 132864 BC103940,BC103941,BC103942,BC105925,BI857384,BU854092,BX640753,NM_182485,NM_182646,AC098829,AC105289,AC114749,CH471069,AK094566,AY247744,AY255519,BC103939,NM_001177381,NM_001177382,NM_001177383,NM_001177384 AAI03941,AAI03942,AAI03943,AAI05926,CAE45860,Q6N013,Q7Z5Q1,NP_872291,NP_872587,EAW92727,EAW92728,EAW92729,EAW92730,AAP37585,AAP41553,AAI03940,NP_001170852,NP_001170853,NP_001170854,NP_001170855 Hs.656937 CPE-BP2|CPEB-2|MGC119575|MGC119576|MGC119577|hCPEB-2 CPE-BP2|CPE-binding protein 2|OTTHUMP00000217614|cytoplasmic polyadenylation element-binding protein 2|hCPEB-2 protein-coding 1348549 CPEB3 cytoplasmic polyadenylation element binding protein 3 12672660,12477932,10231032,15164054,20524672,16990549,15489334,16344560,16385451,19503753,20379614 22849 NM_014912,AL158040,AL365398,CH471066,AB023157,AK127060,BC036444,AK302576,BU785463,DA697430,DB029361,NM_001178137 NP_055727,CAI14104,CAI14105,EAW50097,EAW50098,BAA76784,BAG54433,AAH36444,Q8NE35,ABM87628,ABW03915,BAH13751,NP_001171608,CAI13636,CAI13637 Hs.131683,Hs.701732 CPE-BP3|CPE-binding protein 3|OTTHUMP00000020094|cytoplasmic polyadenylation element-binding protein 3|hCPEB-3 protein-coding 1323642 CPEB4 cytoplasmic polyadenylation element binding protein 4 1580863 15489334,12672660,12477932,11214970,20935629,21102463,19913121,20601676,20628086 80315 NM_030627,AC093275,CH471062,AB051460,AK310905,BC036899,BC117150,BX538213,CR598263,BC143958,BC143959 ADR83112,NP_085130,EAW61389,EAW61390,EAW61391,EAW61392,EAW61393,BAB21764,AAH36899,AAI17151,CAD98072,Q17RY0,AAI43959,AAI43960 Hs.127126 KIAA1673 CPE-BP4|CPE-binding protein 4|cytoplasmic polyadenylation element-binding protein 4|hCPEB-4 protein-coding 1347113 CPHL1 ceruloplasmin and hephaestin-like 1 16543943,11329013 389160 AC093001,NG_022938 CPHL1 pseudo 1344427 CPL1 ceruloplasmin-like 1 3436225 1367 735999 CPLX1 complexin 1 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq] 70701,1580863 16722236,10051208,7553862,18240322,16794037,16442780,15526345,15489334,12477932,12082566,12058476,11832227,11483314,9853440,7654227,12200427,10449403,20201926 70701 10815 NM_006651,AC139887,CH471131,AF022383,AK126578,AK311921,BC002471,BT007029,CR603035 NP_006642,EAW82647,EAW82648,EAW82649,AAB72108,BAG34862,AAH02471,AAP35676,O14810 Hs.478930 CPX-I|CPX1 CPX I|OTTHUMP00000217328|OTTHUMP00000217329|complexin I|complexin-1|synaphin 2|synaphin-2 protein-coding 732283 CPLX2 complexin 2 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 70701,734813 20819981,16442780,7553862,18240322,16162394,16131404,15906159,15653259,15489334,14702039,12807877,12477932,12200427,12082566,12058476,11751907,11576753,11483314,10777504,10430466,10051208,9853440,8824312,605033,10449403,19851296,20198315,20379614 70701,734813 10814 NM_006650,NM_001008220,AC010241,AC018760,AC138965,CH471062,AK055043,AK094266,AK124837,AK126590,AK293819,AK314177,AL512758,AL707430,AY576870,BC039560,BC052974,BC065485,BC093706,BC112287,BI197868,BN000499,BN000500,U35100,Y15167 NP_006641,NP_001008221,EAW61366,EAW61367,BAG57224,BAG36859,AAS93622,AAH93706,AAI12288,CAG26663,CAG26664,AAC50229,Q6PUV4 Hs.193235 921-L|CPX-2|CPX2|Hfb1|MGC138492 CPX II|OTTHUMP00000223289|OTTHUMP00000223290|OTTHUMP00000223291|OTTHUMP00000223293|complexin II|complexin-2|synaphin 1|synaphin-1 protein-coding 1604870 CPLX3 complexin 3 15911881,14702039,12934113,12477932,19430483 594855 NM_001030005,AC091230,CH471136,AB072900,AK024055,AU253913,AY286501,BC018026,CR601117 NP_001025176,EAW99306,EAW99307,BAE45711,AAP41127,AAH18026,Q8WVH0,BAB14805 Hs.187694 CPX-III|CPXIII|DKFZp434E1719|FLJ00167|FLJ00250|FLJ13993|Nbla11589 CPX III|complexin III|complexin-3 protein-coding 1316951 CPLX4 complexin 4 This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq] 1580863 15911881,15489334,14702039,12477932,8889548 339302 BC106886,NM_181654,AC067859,CH471096,AK123184,AY286502,BC065562,BC106887,BC106888,BM661846,BX640655,BX648518 NP_857637,EAW63094,EAW63095,BAC85549,AAP41128,AAI06888,AAI06889,CAE45797,Q7Z7G2,ACE87286,ACE86605 Hs.449884 CPX-IV|CPXIV|DKFZp686A0185|DKFZp686O0683|FLJ41190|MGC125769|MGC125783|MGC125784 CPX IV|complexin IV|complexin-4 protein-coding 1321490 CPM carboxypeptidase M The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 1580863 20673876,2753907,7797563,18292211,18187413,16602701,16344560,15489334,15066430,14517339,12477932,12457462,11934264,11891060,11444929,11375929,11147789,10849748,10426564,10222261,9701794,8889548,8796265,8635221,8586455,8338689,7620164,7615511,2914904,1431901,19820690,18029348 1368 NM_001874,NM_198320,NM_001005502,AC025423,AC133749,AF262947,AF368463,AI524542,AK127859,AK130146,AK313180,AU106031,BC016943,BC022276,BG677445,BM049082,BQ181238,BQ431065,BQ706414,BQ773666,CB241489,CB959900,CB989009,CB993834,CD109360,CR593316,DA205368,DA831499,DA833423,DB006895,J04970 NP_001865,NP_938079,NP_001005502,AAG47641,AAK69717,BAG35997,AAH22276,AAA35651,P14384,ABM84045,ABM87391 Hs.654387 carboxypeptidase M protein-coding 734334 CPN1 carboxypeptidase N, polypeptide 1 Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq] 1580863 20648472,21052031,2912725,19010784,18940312,18039526,15718415,15489334,14687935,12725295,12560874,12477932,11939578,10878383,9628828,8267877,3408501,2610070,16385451,20200978 1369 NM_001308,NG_012060,AL441886,CH471066,AK313972,AW950687,BC027897,CR597710,CR603435,CR608830,X14329 NP_001299,CAI13077,CAI13078,EAW49848,BAG36687,AAH27897,CAA32507,P15169,ABM82977,ABM86170,ABM86171 Hs.2246 CPN|FLJ40792|SCPN anaphylatoxin inactivator|arginine carboxypeptidase|carboxypeptidase N catalytic chain|carboxypeptidase N catalytic subunit|carboxypeptidase N polypeptide 1 50 kD|carboxypeptidase N small subunit|carboxypeptidase n, polypeptide 1, 50kd|kininase I|kininase-1|lysine carboxypeptidase|plasma carboxypeptidase B|serum carboxypeptidase N protein-coding 1346122 CPN2 carboxypeptidase N, polypeptide 2 1580863 2378615,18029348,16335952,15489334,14760718,21052031,12477932,9628828,3408501,14687935 1370 NM_001080513,AC125362,AC174158,CS300516,BC031569,BC042334,BC137398,BC137403,BX951477,J05158 NP_001073982,CAK32180,AAH31569,AAH42334,AAI37399,AAI37404,AAA51921,P22792 Hs.528368 ACBP arginine carboxypeptidase (carboxypeptidase N)|carboxypeptidase N 83 kDa chain|carboxypeptidase N large subunit|carboxypeptidase N regulatory subunit|carboxypeptidase N subunit 2|carboxypeptidase N, polypeptide 2, 83kD|carboxypeptidase n, polypeptide 2, 83kd protein-coding 1322452 CPNE1 copine I Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq] 1580863 9430674,18831769,18523666,16806233,15489334,14674885,12949241,12522145,12477932,11780052,10534407,17643375,19615732,16341674,16344560 8904 NM_152927,NM_152930,NM_152928,NM_152931,NM_152926,NM_152929,NM_003915,AL109827,CH471077,NM_152925,AB209827,AF314092,AI075146,AK308795,AW964878,BC001142,BC021010,BI825962,BI917584,CR456790,CR593699,CR596654,CR604886,CR606579,CR618133,CR624410,CR626381,U83246,BG231745,BG701713,BM755522,BQ433414,DA983782,DB091531,NM_001198863,NR_037188 NP_690902,NP_690904,NP_690907,NP_690905,NP_690908,NP_690903,NP_690906,NP_003906,CAB87610,CAI20120,CAI20122,CAI20123,CAI20124,CAI20125,CAI20126,CAI20127,CAI20128,CAI20129,CAI20130,CAI20131,CAI20132,CAI20133,CAO72111,CAQ10457,EAW76173,EAW76174,EAW76175,EAW76176,EAW76177,EAW76178,EAW76179,EAW76183,EAW76185,EAW76186,EAW76187,Q5JX60,EAW76190,BAD93064,AAG49297,AAH01142,CAG33071,AAC15920,Q59EI4,Q5JX44,Q5JX45,Q5JX52,Q5JX53,Q5JX54,Q5JX55,Q5JX56,Q5JX57,Q5JX58,Q5JX59,EAW76189,Q5JX61,Q99829,NP_001185792 Hs.246413 COPN1|CPN1|MGC1142 OTTHUMP00000030778|OTTHUMP00000030784|OTTHUMP00000196688|OTTHUMP00000199602|OTTHUMP00000204169|copine-1 protein-coding 1319355 CPNE2 copine II Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. 20381070,15489334,14702039,12949241,12522145,12477932,9430674,15146197,8889548,20098747 221184 NM_152727,AC009090,CH471092,AF492484,AK094867,AK126138,AK292269,AK315394,BC053658,BG831872,CR604141,CR749617,BG830959,CB306539,CN283840,DB504175 NP_689940,EAW82903,AAO85483,BAF84958,BAG37787,AAH53658,CAH18411,Q719H8,Q96FN4 Hs.339809 COPN2|CPN2|DKFZp686E06199|MGC16924 copine-2 protein-coding 1320926 CPNE3 copine III Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq] 1580863 11041869,9430674,12949241,18264096,16344560,15489334,14702039,12477932,9734811,16169070,19615732,20010870 8895 NM_003909,AC013751,AC103817,CH471060,AB014536,AF077226,AF116654,AI031907,AK025275,AK124311,AK292912,BC007017,BC008385,BC015734,BC036242,BC066597,BM014699,BX647342,CR599032,DA780310,FB775564 NP_003900,EAW91641,EAW91642,EAW91643,BAA31611,AAD46074,AAF71074,BAF85601,AAH07017,AAH36242,AAH66597,O75131,Q05DL8,Q9P1I0,CAV30739 Hs.191219 CPN3|KIAA0636|PRO1071 copine-3 protein-coding 1318850 CPNE4 copine IV Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq] 15489334,14702039,12670487,12522145,12477932,9430674,20379614 131034 NM_130808,AC021659,AC055754,AC076961,AC107027,AC135002,AC136276,CH471052,AF465770,AF465771,AK056175,AK128117,BC014396,BC028613,BC075046,CR593567,CR617237,AK295557 NP_570720,EAW79206,EAW79207,AAL74190,AAL74191,BAB71111,AAH14396,AAH28613,AAH75046,Q4G168,Q96A23,ABM84415,ABM87414,BAH12106 Hs.199877 COPN4|CPN4|MGC15604 OTTHUMP00000216033|OTTHUMP00000216178|OTTHUMP00000216179|OTTHUMP00000216180|copine 8|copine-4|copine-8 protein-coding 1317548 CPNE5 copine V Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. 14574404,12477932,10997877,9647638,9430674,20379614 57699 CH471081,Z85996,AB046819,AL833002,BC012765,BC036840,BC053872,NM_020939 EAX03911,EAX03912,EAX03913,EAX03914,EAX03915,CAD92810,BAB13425,CAH56298,AAH53872,Q658T3,Q7Z6C8,Q9HCH3,NP_065990 Hs.657869 COPN5|CPN5|DKFZp666C234|KIAA1599 copine-5 protein-coding 1313396 CPNE6 copine VI (neuronal) This gene encodes a brain-specific member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains, and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq] 1580863 9645480,15489334,14702039,12477932,11041869,10403379,9886090,9373149,8125298,16169070,20800603 9362 NM_006032,AL136295,CH471078,AB009288,AK125195,AK222675,AK293655,AK294460,AK314182,AL050397,AL137688,AW157471,BC018046,CR598214 NP_006023,EAW66117,EAW66118,EAW66119,EAW66120,BAA75899,BAG54163,BAD96395,BAH11559,BAH11775,BAG36863,AAH18046,O95741,ABM84568,ABM86508 Hs.6132 N-COPINE OTTHUMP00000027965|copine-6|neuronal copine|neuronal-copine protein-coding 1316677 CPNE7 copine VII This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10534407,16189514,15489334,12477932,8889548,19615732 27132 NM_014427,NM_153636,AC010538,AC092123,AJ133799,CH471184,AJ133798,AL539371,BC035334,BC064577,BU739859 NP_055242,NP_705900,CAB61446,EAW66721,EAW66722,CAB61431,AAH35334,AAH64577,Q9UBL6 Hs.461775 MGC34192 copine 7|copine-7 protein-coding 1317425 CPNE8 copine VIII Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. 16381901,15489336,15489334,14702039,12886257,12670487,12477932,11230166,11123945,11076863,9430674 144402 NM_153634,AC023795,AC067735,AC069442,CH471111,AK074223,AK094998,AK098593,AK307908,AY177785,BC046366,BC048260,BC068040,BC110577,BC110578,BI669075,BX538055,CR610762,R51494 NP_705898,EAW57798,EAW57799,BAG52968,BAC05344,AAO21123,AAH46366,AAI10578,AAI10579,Q86VY2,Q86YQ8,CAL37791 Hs.40910 MGC129645|MGC129646 copine-8 protein-coding 1604226 CPNE9 copine family member IX 16335952,15489334,15028280,12477932,11123945,9430674,19913121,20628086 151835 NM_153635,AC022382,AA758411,BC035735,BC130375,BM545574,BU101942,BX453546,CA307982 NP_705899,AAH35735,AAI30376,Q8IYJ1 Hs.121335 KIAA4217 copine IX|copine-9|copine-like protein protein-coding 1342793 CPO carboxypeptidase O 15815621,15489334,12477932,11836249 130749 NM_173077,AC019052,CH471063,AJ422118,BC112076,BC112078,BK000189,NG_028078 NP_775100,AAX93277,EAW70399,CAD19478,AAI12077,AAI12079,Q8IVL8,DAA00036 Hs.684103 MGC138281|MGC138283 carboxypeptidase O protein-coding 1323470 CPOX coproporphyrinogen oxidase Coproporphyrinogen oxidase (EC 1.3.3.3) is the sixth enzyme of the heme biosynthetic pathway. This soluble protein is localized in the intermembrane space of mitochondria and catalyzes the stepwise oxidative decarboxylation of the heme precursor coproporphyrinogen III to protoporphyrinogen IX via the tricarboxylic intermediate harderoporphyrinogen.[supplied by OMIM] 1600955,1600958,1580863,1578396,4144824,4144542 16176984,7757079,9888388,8159699,18029348,8407975,19267996,18557518,17179900,16343843,16258391,20877624,16159891,15896662,15489334,14669009,12862310,12477932,12227458,12208494,12181641,12059041,11309681,11248690,9843038,9454777,9373149,9298818,9048920,8990017,8286403,8125298,8012360,7987309,7959694,7849704,19339664 1600955,1600958,4144824,4144542 1371 NM_000097,AC021660,CH471052,Z34531,AK223481,AK290140,AK299692,BC017210,BC023551,BC023554,BX648974,D16611,Z28409,NG_015994 NP_000088,EAW79854,CAA84292,BAD97201,BAF82829,BAG61597,AAH17210,AAH23551,AAH23554,BAA04033,CAA82250,P36551 Hs.476982 CPO|CPX|HCP COX|coprogen oxidase|coproporphyrinogen-III oxidase, mitochondrial|coproporphyrinogenase protein-coding 1351949 CPP ceruloplasmin (ferroxidase) pseudogene 15752613,3427102 340451 NG_001106,AC104966,M18058 pseudo 1602325 CPPED1 calcineurin-like phosphoesterase domain containing 1 8125298,16344560,14702039,12477932,9373149,17207965,20379614 55313 NM_018340,AC010333,AC092324,AC109597,CH471112,AK002013,AK022710,AK093854,AK225359,AK225617,AK298662,AY553877,BC006289,BX092044,BX640805,NM_001099455,CR593411,CR605457,CR620354,DA387854,DB468489 NP_001092925,NP_060810,EAW85121,EAW85122,BAA92034,BAB14194,BAG52775,BAG60830,AAS64575,AAH06289,CAE45887,Q9BRF8,ADQ32302 Hs.460002 CSTP1|FLJ11151 calcineurin-like phosphoesterase domain-containing protein 1|complete S transactivated protein 1|complete S-transactivated protein 1 protein-coding 70833 CPS1 carbamoyl-phosphate synthetase 1, mitochondrial The protein encoded by this gene is an enzyme that catalyzes the first committed step of the hepatic urea cycle, which is important in the removal of excess urea from cells. There are two isozymes of this enzyme, and the encoded protein is the mitochondrial form. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. [provided by RefSeq] 2300098,2303515,2303405,2303517,2303532,2303406,2303519,1582379,1600715,1600716,1600717,704404,1300048,1580863,4144071,4144089,70249,4144110,4140432 12620389,7416778,14718356,9711878,15897806,18063578,17597649,17188582,15715943,15617192,15342556,15164414,15146197,12955727,12853138,12655559,12477932,11474210,11407344,8486760,7590739,2517620,1840546,20877624,20578160,19913121,20628086,20659789,19410549,19754428,19793055,19926579,20031577,20031578,20154341,20379614,20383146,20456087,20520828,6249820 2300098,2303515,2303405,2303517,2303532,2303406,2303519,1582379,1600715,1600716,1600717,4144071,4144089,70249,4144110,4140432 1373 NM_001875,NM_001122633,NM_001122634,NG_008285,AC008172,AF536523,AY167007,CH471063,AB180933,AB180934,AB180935,AB180936,AB180937,AB180938,AB208800,AF154830,AK289749,AK302778,AK316425,AL704546,AY317138,BC020695,BC058010,BC140943,BP244862,BX537776,BX640601,CN367875,D90282,DC402554,Y15793,CS380713,AC007970 NP_001866,NP_001116105,NP_001116106,AAY14960,AAN77181,AAO31763,EAW70492,EAW70493,EAW70494,BAD74204,BAD74205,BAD74206,BAD74207,BAD74208,BAD74209,BAD92037,AAD38072,BAF82438,BAH13804,BAH14796,AAP84318,AAH20695,AAH58010,AAI40944,CAE45707,BAA14328,CAA75785,P31327,Q05CV6,Q53TL5,Q59HF8,Q5R206,Q5R207,Q5R208,Q5R209,Q5R210,Q5R211,Q6PEK7,CAL39127 Hs.149252 CPSASE1 carbamoyl-phosphate synthase [ammonia], mitochondrial|carbamoylphosphate synthetase I protein-coding 4107272 CPS1IT1 CPS1 intronic transcript 1 (non-protein coding) This gene does not encode a protein, and it is located within an intron of the gene encoding carbamoyl-phosphate synthetase 1. [provided by RefSeq] 12477932 29034 AC008172,AF090897,BC020670,NR_002763 AAF24021,AAY14961 Hs.658398 CPS1IT|CPS1IT1|PRO0132 miscrna 1315001 CPSF1 cleavage and polyadenylation specific factor 1, 160kDa Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM] 1580863 8302877,7651824,1756731,7590244,14667819,12226669,15489334,15302935,14749727,12477932,12392551,11992410,11739730,11124521,11060040,10669729,9311784,9002523,8654386,18173839 29894 AC233992,AF205589,CH471162,AB046744,AK293601,BC009954,BC017232,BC028197,CD299980,CR599352,CR600757,CR602307,CR603069,CR623028,U37012,NM_013291 NP_037423,EAW82106,EAW82107,EAW82108,EAW82109,EAW82110,BAB21613,BAG57065,AAH17232,AAC50293,Q10570,Q9C0J6,ABM84405,ABM87355 Hs.493202 CPSF160|HSU37012|P/cl.18 CPSF 160 kDa subunit|cleavage and polyadenylation specificity factor 160 kDa subunit|cleavage and polyadenylation specificity factor subunit 1|polyadenylation specificity factor protein-coding 1343883 CPSF1P1 cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1 129099 NG_005204,AL008723 dJ90G24.5 pseudo 1320166 CPSF2 cleavage and polyadenylation specific factor 2, 100kDa 1580863 7969155,7590244,17353931,12226669,18029348,18688255,18391951,17081983,16344560,15489334,15302935,14749727,14702039,12477932,11526086,11124543,11060040,10983978,10718198,10669729,9002523,8654386,8440247,8302877,20546612,18305108 53981 NM_017437,AL121773,CH471061,AB037788,AK001627,AK001912,AK023583,AL442079,AU132572,BC060854,BC070095,BU071571,DB081880 NP_059133,EAW81480,EAW81481,EAW81482,EAW81483,BAA92605,BAG50953,BAG50992,BAG51207,CAC09445,AAH70095,Q9P2I0 Hs.657632 CPSF100|KIAA1367 CPSF 100 kDa subunit|CPSF 100kDa subunit|cleavage and polyadenylation specificity factor 100 kDa subunit|cleavage and polyadenylation specificity factor subunit 2 protein-coding 1313998 CPSF3 cleavage and polyadenylation specific factor 3, 73kDa 1580863 8302877,8125298,7590244,8929409,12226669,7969155,19136632,18955505,18806823,18688255,17669424,17128255,15489334,15324660,15194760,14749727,12477932,11060040,10669729,9373149,9002523,18305108,21102410 51692 CR615280,EF036508,AC080162,CH471053,AF017269,AF171877,AK025440,AK223487,AK298918,BC011654,BC014106,BC020211,BC030988,BC043432,NM_016207 ABO65094,Q05BZ5,Q53F02,Q9UKF6,ABW03853,NP_057291,AAY14858,EAX00989,EAX00990,AAB70268,AAF00224,BAD97207,BAG61024,AAH11654,AAH20211,AAH30988 Hs.515972 CPSF|CPSF-73|CPSF73|YSH1 CPSF 73 kDa subunit|OTTHUMP00000214089|cleavage and polyadenylation specificity factor 3|cleavage and polyadenylation specificity factor 73 kDa subunit|cleavage and polyadenylation specificity factor subunit 3|mRNA 3'-end-processing endonuclease CPSF-73 protein-coding 1603031 CPSF3L cleavage and polyadenylation specific factor 3-like The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16710414,16381901,16239144,16189514,15684398,15489336,15489334,14702039,12477932,11230166,11076863,18029348,19913121,20628086 54973 NM_017871,AL139287,CH471183,AA687684,AK000549,AK021939,AK022675,AK023356,AK027767,AK056652,AK058018,AK092190,AK123641,AK291387,AK297350,AL136813,BC000675,BC007978,BC008041,BC013904,BC020199,BC042444,BC047576,BK005673,BK005728,CR533557,CR592541,CR614665,CR623939,CR625226 NP_060341,CAI23176,CAI23180,CAI23181,CAI23182,EAW56232,EAW56233,EAW56234,EAW56235,EAW56236,EAW56237,EAW56238,EAW56239,EAW56240,EAW56241,EAW56242,EAW56243,EAW56244,BAA91246,BAB13943,BAB14541,BAG51775,BAF84076,BAG59799,CAB66747,AAH00675,AAH07978,AAH08041,AAH13904,AAH20199,DAA05669,DAA05728,CAG38588,CAI23178,Q5TA44,Q5TA45,Q96HV7,CAL38096,CAI23177 Hs.6449 CPSF73L|FLJ13294|FLJ20542|INT11|INTS11|RC-68|RC68 CPSF3-like protein|OTTHUMP00000003393|OTTHUMP00000003397|cleavage and polyadenylation-specific factor 3-like protein|integrator complex subunit 11|protein related to CPSF subunits of 68 kDa|related to CPSF subunits 68 kDa protein-coding 736724 CPSF4 cleavage and polyadenylation specific factor 4, 30kDa Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq] 727752,1580863 19913121,20628086,17522219,16341674,16189514,15489334,14749727,12690205,12477932,11060040,9651582,9224719,9002523,8889549,8302877,7969155,16169070,17207965 727752 10898 NM_006693,NM_001081559,AC073063,CH236956,CH471091,EF191081,AA040394,AI076832,AK301745,BC003101,BC050738,BM757197,BM787372,BQ052009,BQ641871,CR542161,CR613235,CR622877,CR625041,CX754488,U79569 NP_006684,NP_001075028,EAL23878,EAW76662,EAW76663,EAW76664,EAW76665,EAW76666,EAW76667,EAW76668,ABN05292,BAH13546,AAH03101,AAH50738,CAG46958,AAD00321,O95639,ADQ33100 Hs.489287 CPSF30|NAR|NEB1 CPSF 30 kDa subunit|NS1 effector domain-binding protein 1|OTTHUMP00000206235|OTTHUMP00000206237|OTTHUMP00000206239|cleavage and polyadenylation specific factor 4, 30kd subunit|cleavage and polyadenylation specificity factor 30 kDa subunit|cleavage and polyadenylation specificity factor subunit 4|cleavage-polyadenylation specificity factor, 30kD|neb-1|no arches homolog|no arches-like zinc finger protein protein-coding 2290025 CPSF4L cleavage and polyadenylation specific factor 4-like 20379614,16625196,12477932 642843 NM_001129885,AC087301,CH471099,BC157870 NP_001123357,EAW89121,AAI57871,A6NMK7 Hs.534707 putative cleavage and polyadenylation specificity factor subunit 4-like protein protein-coding 1312196 CPSF6 cleavage and polyadenylation specific factor 6, 68kDa The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq] 17172643,14561889,15169763,14690600,9659921,18809582,18391951,17267687,17024186,16344560,16189514,15937220,15489334,12477932,9373149,8626397,8125298,17353931,14702039,16055720,16713569,19447967,19864460,20227665 11052 NM_007007,AC020656,CH471054,X67336,AK223568,AK292024,AK299928,AW189370,BC000714,BC005000,CR601123,CR623508,DA365448,X67337,AK021534,AK021833,AK098338 NP_008938,EAW97215,EAW97216,EAW97217,EAW97218,EAW97219,CAA47751,BAD97288,BAF84713,BAG61761,AAH00714,AAH05000,CAA47752,Q16630,ABM83085,ABW03489 Hs.369606 CFIM|CFIM68|HPBRII-4|HPBRII-7 CPSF 68 kDa subunit|cleavage and polyadenylation specificity factor 68 kDa subunit|cleavage and polyadenylation specificity factor subunit 6|pre-mRNA cleavage factor I, 68kD subunit|pre-mRNA cleavage factor Im (68kD)|pre-mRNA cleavage factor Im 68 kDa subunit|protein HPBRII-4/7 protein-coding 1602680 CPSF7 cleavage and polyadenylation specific factor 7, 59kDa 16713569,12226669,17081983,16344560,16189514,15489334,15144186,14702039,12477932,8626397,17024186 79869 NM_024811,NM_001136040,NM_001142565,AP003108,CH471076,AJ275970,AK022591,AK092037,AK096343,AK294578,AK307190,AL512759,AL832546,AL832667,AL833332,BC018135,BX537888,CR596129,CR601865,DA194038,DA804579,CR615086 NP_079087,NP_001129512,NP_001136037,EAW73945,CAC81661,BAB14118,BAG53266,BAG57769,CAC21678,AAH18135,CAD97884,Q8N684,ACE87353,ACE86669 Hs.726379,Hs.718984 FLJ12529|FLJ39024|MGC9315 CPSF 59 kDa subunit|OTTHUMP00000211669|cleavage and polyadenylation specificity factor 59 kDa subunit|cleavage and polyadenylation specificity factor subunit 7|pre mRNA cleavage factor I, 59 kDa subunit|pre-mRNA cleavage factor I, 59 kDa subunit|pre-mRNA cleavage factor Im 59 kDa subunit protein-coding 735945 CPT1A carnitine palmitoyltransferase 1A (liver) The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,2311345,2311344,1600732,1300048,2317584 7892212,19217814,19181627,18996102,18385088,18253084,17452323,17445541,17089095,16806233,16697732,16344560,16271724,16246309,15846373,15669684,15647998,15489334,14711372,14517221,12477932,12464674,12189492,12111367,11441142,11350182,11001805,10408760,9691089,9070950,9070836,11095714,19913121,20602615,20628086,20696606,18029348,20843525,20877624,20638986,20937660,20124555,20562859,11257506,16054041 2311345,2311344,1600732,2317584 1374 NM_001876,NG_011801,AJ420747,AJ420748,AP000808,AP003732,CH471076,AA632225,AJ420378,AK025307,AK172798,AK309464,AK314301,BC000185,BT009791,CR599853,DB063502,L39211,NM_001031847 NP_001027017,NP_001867,CAD12625,CAD59673,EAW74721,EAW74722,CAD12576,BAG36955,AAH00185,AAP88793,AAC41748,P50416,Q8WZ48 Hs.503043 CPT1|CPT1-L|L-CPT1 CPT I|CPTI-L|carnitine O-palmitoyltransferase 1, liver isoform|carnitine O-palmitoyltransferase I, liver isoform|carnitine palmitoyltransferase 1, liver|carnitine palmitoyltransferase I, liver protein-coding 619557 CPT1B carnitine palmitoyltransferase 1B (muscle) The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq] 1580863,1300048,2317584 10408760,11257506,16054041,19404393,19074885,18996102,18823527,18820697,18660489,17987377,17089095,15647998,15579906,15356291,12565845,12477932,12015320,11258795,11001805,10918069,10591208,10493829,9373149,9344464,9224698,9199240,9070950,8679700,8125298,11095714,9693124,9830040,20877624,21048031,19913121,20628086,19553926,19937377 2317584 1375 NM_001145134,NM_152245,NM_001145135,NM_001145136,NM_004377,NM_152246,NM_001145137,AB003286,CH471138,U62317,AI142100,AK223174,AK291316,AK297866,AK299395,BC142954,BG426428,BI560870,BU615917,CR619413,D87812,DC373481,U62733,U66828,Y08682,Y08683,AW297964,CB961274,HH961808,NG_012643 NP_001138606,NP_689451,NP_001138607,NP_001138608,NP_004368,NP_689452,NP_001138609,BAA21492,EAW73568,EAW73569,EAW73570,EAW73571,EAW73572,AAB03343,BAD96894,BAF84005,BAH12680,BAH13024,AAI42955,AAC51122,AAB40651,CAA69938,CAA69939,Q53FV7,Q92523,AAI43072,AAI50319,CBX51377,BAA13461 Hs.439777,Hs.609867 CPT1-M|CPT1M|CPTI|CPTI-M|FLJ55729|FLJ58750|KIAA1670|M-CPT1|MCCPT1|MCPT1 CPT I|CPTI-M|carnitine O-palmitoyltransferase 1, muscle isoform|carnitine O-palmitoyltransferase I, mitochondrial muscle isoform|carnitine O-palmitoyltransferase I, muscle isoform|carnitine palmitoyltransferase I-like protein protein-coding 1313382 CPT1C carnitine palmitoyltransferase 1C 1580863 18385088,18192268,15489334,14702039,12477932,12376098,11001805,11095714,15342556,15363638,15613406,16778180,17018521,17478525,19694967,20864405,19913121,20628086,20877624 126129 NM_152359,NM_001136052,AC011495,AF331918,CH471177,AB208884,AF357970,AK074389,AK096516,AK289713,AK290092,AK299866,AK309087,AL831876,BC029104,BP194020,NM_001199752,NM_001199753 NP_689572,NP_001129524,AAQ14875,EAW52523,EAW52524,EAW52525,EAW52526,EAW52527,EAW52528,EAW52529,EAW52530,EAW52531,EAW52532,EAW52533,BAD92121,AAL99615,BAB85068,BAG53311,BAF82402,BAF82781,BAG61720,CAD38561,AAH29104,Q59H75,Q8TCG5,ABM82478,ABM85665,NP_001186681,NP_001186682 Hs.112195 CATL1|CPT1-B|CPT1P|CPTI-B|CPTIC|FLJ23809 CPT IC|CPT1-B|CPT1-like pseudogene|CPTI-B|carnitine O-palmitoyltransferase 1, brain isoform|carnitine O-palmitoyltransferase I, brain isoform|carnitine acyltransferase-like protein 1|carnitine palmitoyltransferase I related C protein-coding 736835 CPT2 carnitine palmitoyltransferase 2 The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq] 1580863,1600742,734814,1300048,2317584 18029348,20877624,20934285,18363739,18306170,18024217,17936304,17709715,17651973,17179390,16996287,16710414,16671104,16670153,16168441,15754283,15647998,15642848,15622536,15489334,14615409,14605500,12971426,12707442,12477932,12410208,12408750,11994355,11855939,11477613,11001805,10607472,10090476,9758712,9600456,9373149,8651281,8499929,8358442,8125298,8086471,7896283,7892212,2174799,1961767,1528846,11095714,7711730,1988962,11257506,16054041,19362304,18996102,18645163,18550408,19913121,20602615,20628086,20538056,19762733,20370797 1600742,734814,2317584 1376 NM_000098,NG_008035,AL606760,CH471059,CQ789417,U09646,X78707,AK223052,AK312687,BC002445,BC005172,BU629852,CR598552,M58581,U09648,HC892329,HC898236,HC901564 NP_000089,CAI18907,EAX06753,CAG24446,AAB60382,CAA55360,BAD96772,BAG35567,AAH02445,AAH05172,AAB59462,AAB60383,P23786,Q53G79,CBN60633,CBN63525,CBN65242 Hs.713535 CPT1|CPTASE CPT II|carnitine O-palmitoyltransferase 2, mitochondrial|carnitine palmitoyltransferase 2|carnitine palmitoyltransferase II protein-coding 1345667 CPVL carboxypeptidase, vitellogenic-like The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq] 1580863 17353931,17903298,16303743,15489334,14702039,12975309,12853948,12690205,12477932,11401439,11042152,10610771,10527689,9780222,9373149,8125298,19734545,20379614,20460425,20562859,17207965 54504 CR623778,CR625865,CR624622,CR625045,NM_031311,AC005162,AC005232,AC007096,CH236948,CH471073,AF106704,AF217508,AF282617,AK075433,AK124472,AK225545,AY358549,BC016838,CR593867,CR595924,CR596105,CR597484,CR600754,CR601820,CR603250,CR603975,CR607237,CR613388,CR623624,NM_019029 O75225,Q75MM4,Q9H3G5,Q9NZ90,ABM82380,NP_061902,NP_112601,AAC23787,AAS07545,EAL24207,EAW93914,EAW93915,EAW93916,EAW93917,EAW93918,AAG37991,AAF67619,AAG14348,BAC11618,BAG54041,AAQ88913,AAH16838,ADQ32627 Hs.233389 HVLP|MGC10029 OTTHUMP00000202520|OTTHUMP00000202581|VCP-like protein|probable serine carboxypeptidase CPVL|vitellogenic carboxypeptidase-like protein protein-coding 1343310 CPX cleft palate and/or ankyloglossia 1377 1345373 CPXCR1 CPX chromosome region, candidate 1 1580863 12477932,11499681 53336 NM_033048,AL031116,CH471104,AF284767,AK098646,AK313768,BC027614,BU570042,NG_021312,NM_001184771 NP_149037,CAI43119,EAW98549,EAW98550,EAW98551,AAK69720,BAC05363,BAG36506,AAH27614,Q8N123,ABM82606,ABM85791,NP_001171700 Hs.458292 CT77 CPX chromosomal region candidate gene 1 protein|cancer/testis antigen 77 protein-coding 1315836 CPXM1 carboxypeptidase X (M14 family), member 1 The protein encoded by this gene is a member of the M14 family of zinc carboxypeptidases; however, the protein has no detectable carboxypeptidase activity. The encoded protein is thought to be an extracellular and/or membrane protein, and may be involved in cell-cell interactions. [provided by RefSeq] 1580863 15489334,15146197,14759258,14702039,12975309,12477932,11780052,10073577,16344560 56265 AL035460,CH471133,CS208031,AI470029,AK027661,AK075508,AK075527,AK303142,AK315027,AL541188,AW874578,AY358956,BC032692,BC063430,BX366559,CN308423,CR621966,NM_019609,DB252546,NM_001184699,HB867216 NP_062555,CAB82246,EAX10575,CAJ44941,BAB55275,BAC11661,BAC11672,BAG64246,AAQ89315,AAH63430,Q8N2E1,Q8N2F1,Q96SM3,NP_001171628,CBF57594 Hs.659346 CPX1|CPXM carboxypeptidase x (m14 family)|metallocarboxypeptidase CPX-1|probable carboxypeptidase X1 protein-coding 1345488 CPXM2 carboxypeptidase X (M14 family), member 2 737633,1580863 15489334,15231748,12975309,12477932,9809751,16385451,20379614 737633 119587 AK304814,AL833732,AY358565,BC027623,BC036789,BC137492,BC146862,NM_198148,AC009987,AC068058,CH471066,AK296365,AK300506,AK304023 BAG65564,CAH56260,AAQ88928,AAH27623,AAH36789,AAI37493,AAI46863,Q49AT5,Q658N0,Q8N436,NP_937791,EAW49279,BAG59040,BAG62219,BAG64938 Hs.656887 UNQ676 4632435C11Rik|carboxypeptidase Hlo|carboxypeptidase-like protein X2|inactive carboxypeptidase-like protein X2 protein-coding 731300 CPZ carboxypeptidase Z This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20379614,9099699,15489334,14702039,12477932,12417617,11766880,10671522,10080937,10737800,15489335,16344560 8532 NM_001014448,NM_001014447,NM_003652,AC105345,CH471131,AI270606,AK056317,AK127844,BC006393,BC018913,BC080539,CR611914,U83411,AW139378,BF993977,BX338482,CV026874,DA050438,DA698835,DA704214 NP_001014448,NP_001014447,NP_003643,EAW82332,EAW82333,EAW82334,EAW82335,BAB71147,BAG54585,AAH80539,AAB58911,Q66K79 Hs.78068 MGC99682 carboxypeptidase Z protein-coding 1603411 CR1 complement component (3b/4b) receptor 1 (Knops blood group) This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq] 20534741,20558149,20558387,20670356,20697030,20739100,1827486,1708809,1708808,1670949,7690834,20646210,20795311,20951238,2972794,19344414,19131551,19048480,18954403,18954261,18937792,18929826,18842294,18713965,18709693,18684861,18434253,18182380,18075277,18028942,17999656,17709521,17467802,17207243,16433910,16426237,16360013,16289666,16277654,16133175,15864913,15733500,15728520,15660833,15578041,15529364,15526369,15388259,15381817,15176657,15163541,15072851,15069174,14694201,14635039,14556965,12869997,12773320,12490287,12486610,12477932,12091241,12083416,11981823,11955431,11896343,11884446,11694537,11313284,11120776,10737800,10698335,10528211,10528197,10382758,9988761,9614933,9230440,9089986,8422437,8245463,6978375,6572933,6230413,6223944,6222138,6126949,6115248,4019777,3782802,3736743,3305706,3157763,3156931,3155774,3031685,3014040,2989379,2977721,2971757,2959289,2951479,2933745,2877046,2564414,2551147,2531419,2478758,2411809,2295627,19480840,19578791,19734903,19874218,19906204,19959855,20237496,20379614,20459687,20538029,20889874,20554627,20702729,20855594 1378 NM_000573,NG_007481,AF169969,AF169970,AF264715,AF264716,AL137789,AL691452,AY701493,NM_000651,AY701494,AY701495,AY701496,AY701497,AY701498,AY701499,AY701500,AY701501,AY701502,AY701503,AY701504,CH471100,L17390,L17418,M31241,X14358,X14361,AK298486,AK309342,BC032550,BF900429,BX113709,BX643705,CR595595,CR616598,M11569,M11617,M11618,X05309,X14362,Y00816 NP_000642,NP_000564,AAG09139,AAG09140,AAG14442,AAG14443,CAI16042,CAI16043,CAI16044,CAI16723,CAI16724,CAI16725,CAI16726,CAI16727,CAI16728,AAV65567,AAV65568,AAV65569,AAV65570,AAV65571,AAV65572,AAV65573,AAV65574,AAV65575,AAV65576,AAV65577,EAW93480,AAB60694,AAB60695,AAD15289,CAA32538,CAE82047,CAA32540,BAG60695,AAA52297,AAA52298,AAA52299,CAA28933,CAA32541,AAV65566,CAA68755,O76106,P17927,Q16521,Q5SBJ5,Q5SBJ6,Q5SBJ7,Q5SBJ8,Q5SBJ9,Q5SBK0,Q5SBK1,Q5SBK2,Q5SBK3,Q5SBK4,Q5SBK5,Q5SBK6,Q5SR40,Q5SR41,Q5SR42,Q5SR44,Q9HB98,Q9HB99,Q9HC54,Q9HC55,Q9UQR7 Hs.334019 C3BR|C4BR|CD35|KN C3-binding protein|C3b/C4b receptor|CD35 antigen|Knops blood group antigen|OTTHUMP00000034454|OTTHUMP00000034544|OTTHUMP00000034545|complement component receptor 1|complement receptor type 1 protein-coding 1348835 CR1L complement component (3b/4b) receptor 1-like 19060910,16344560,14687939,12477932,10737800,2295627 1379 NM_175710,AL137789,AL365178,CS300531,M31230,M31231,M31232,M31233,M31234,M31235,M31236,M31237,AY114160,BC109190,BC109191,BE842163,BE842176,BX094042,DB337938 NP_783641,CAK32195,AAM47024,AAI09191,AAI09192,Q2VPA4,AAI60171 Hs.628568,Hs.655194 MGC129536 complement C4b-binding protein CR-1-like protein|complement component receptor 1-like protein protein-coding 1320753 CR2 complement component (3d/Epstein Barr virus) receptor 2 Complement component receptor-2 (CR2) is the membrane protein on B lymphocytes to which the Epstein-Barr virus (EBV) binds during infection of these cells. See also CR1 (MIM 120620). Yefenof et al. (1976) [PubMed 181330] found complete overlapping of EBV receptors and C3 (MIM 120700) receptors on human B lymphocytes.[supplied by OMIM] 1580863 20558730,2827171,11728339,2563370,19387458,19344414,19164292,19017934,18842294,18804116,18713965,18568448,18500464,18174230,17881405,17360460,17301948,17118449,16987062,16920989,16785534,16740600,16375923,16344560,16289966,15905540,15795251,15713468,15713467,15603708,15187133,14635039,14607925,12813023,12713795,12546713,12477932,12444129,12149502,12122212,11981823,11813981,11739509,11698449,11684127,11466369,11387479,10068037,9796912,9373149,8996252,8766552,8390533,8125298,7780154,7753047,7690834,7515913,3782802,3016712,2832506,2528587,2161885,1849076,1831222,1830068,1708808,1702139,1424280,1383329,1323059,181330,8474169,16806233,16803874,20951140,21106852,9804823,15138285,19187965,19193442,19359041,19360456,19487031,19524299,19666505,19740327,20083651,20091675,20237496 1380 M26004,S62696,Y00649,J03565,NM_001006658,NM_001877,AL391597,AL691452,CH471100,M26016,AI765035,AK223627,AK301496,AU133057,AW303499,BC032548,BC090937,BC136394,BQ004295,NG_013006 AAA35784,AAA35786,AAB27186,CAA68674,P20023,Q53EL2,Q9H2B3,NP_001006659,NP_001868,CAH72949,CAH72950,CAH72951,CAI16729,CAI16730,CAI16731,EAW93481,EAW93482,EAW93483,AAB04638,BAD97347,BAG63007,AAH90937,AAI36395 Hs.445757 C3DR|CD21|SLEB9 EBV receptor|complement C3d receptor|complement receptor type 2|epstein-Barr virus receptor protein-coding 1345653 CRABP1 cellular retinoic acid binding protein 1 This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq] 1580863 20571834,20634891,1309505,19087254,18000064,17727842,17623056,17438526,17167179,16344560,16254461,15515157,15489334,15281009,14713576,14605320,12640681,12477932,9704013,9154115,9005841,2825608,1654334,15607035,8999826,16169070 1381 NM_004378,AC011270,CH471136,AI863257,AL110113,AU132726,BC022069,CR457017,S74445,FB571429 NP_004369,EAW99172,AAH22069,CAG33298,AAB20773,P29762,ABM87829,ABW03735,CAR95132 Hs.346950 CRABP|CRABP-I|CRABPI|RBP5 cellular retinoic acid-binding protein 1|cellular retinoic acid-binding protein I protein-coding 731412 CRABP2 cellular retinoic acid binding protein 2 A number of specific carrier proteins for members of the vitamin A family have been discovered. Cellular retinoic acid binding proteins (CRABP) are low molecular weight proteins whose precise function remains unknown. The inducibility of the CRABP2 gene suggests that this isoform is important in retinoic acid-mediated regulation of human skin growth and differentiation. It has been postulated that the CRABP2 gene is transcriptionally regulated by a newly synthesized regulatory protein. [provided by RefSeq] 1580863 1654334,1334086,19173001,18955045,18343808,17484622,17187826,16979656,16912187,16710414,16215318,15870697,15866176,15489334,15225641,14766225,12844477,12482873,12477932,11909957,10531482,9737883,9737849,9600845,9238678,9154115,8381448,8048948,7704533,7563063,1321791,1309505,8999826,15342556,16211222,16237707,16344560,17553814,17893666,19173612,19648781,20622962,18029348,20019841,20308937,20413122 1382 NM_001878,AL590666,CH471121,M97815,AK312007,BC001109,BT019827,CR450357,M68867,AU126559,BP231157,NM_001199723 NP_001869,CAI16339,CAI16340,EAW52921,EAW52922,AAA58430,BAG34945,AAH01109,AAV38630,CAG29353,AAA52068,P29373,Q5SYZ4,ABM83191,ABM87850,NP_001186652 Hs.405662 CRABP-II|RBP6 OTTHUMP00000038732|cellular retinoic acid-binding protein 2|cellular retinoic acid-binding protein II protein-coding 1347111 CRAC1 colorectal adenoma and carcinoma 1 10092300,12117880 338377 1322237 CRADD CASP2 and RIPK1 domain containing adaptor with death domain The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. [provided by RefSeq] 1580863 15073321,16652156,9044836,18391951,17329820,16434054,15489334,12477932,11832478,11156409,11002417,10713730,9806843,9695946,8985253,8889549,20406701,8617505,16169070,19125251,19203584,20208132,20237496,16360037,20546612,20677014 8738 NM_003805,AC012085,AC012464,AC025261,CH471054,AA150833,AB451280,AB451412,AI791547,AK296225,AK314861,BC017042,BC037905,BT009837,CD696130,CR407643,U79115,U84388 NP_003796,EAW97497,BAG70094,BAG70226,BAG58948,BAG37377,AAH17042,AAH37905,AAP88839,CAG28571,AAB42217,AAC50952,P78560,Q53XL1,Q8IY43,ABM82706,ABM85890 Hs.38533,Hs.591016 MGC9163|RAIDD RIP-associated ICH1/CED3-homologous protein with death domain|RIP-associated protein with a death domain|caspase and RIP adapter with death domain|caspase and RIP adaptor with death domain|death adaptor molecule RAIDD|death domain containing protein CRADD|death domain-containing protein CRADD protein-coding 1323669 CRAMP1L Crm, cramped-like (Drosophila) 10718198,14702039,12477932,11157797 57585 NM_020825,AL031009,AL031708,CH471112,Z97652,AB037847,AK056087,AK095591,BC137172,BC137173,BC152477,BE048705,BM451163 NP_065876,CAM26477,EAW85640,EAW85641,CAM26431,BAA92664,AAI37173,AAI37174,AAI52478,Q96RY5 Hs.603676 HN1L|MGC176736|TCE4 Crm (Cramped Drosophila)-like|OTTHUMP00000082731|T-complex expressed gene 4|hematological and neurological expressed 1-like protein|protein cramped-like protein-coding 1350289 CRAT carnitine acetyltransferase This gene encodes carnitine acetyltransferase (CRAT), which is a key enzyme in the metabolic pathway in mitochondria, peroxisomes and endoplasmic reticulum. CRAT catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acylCoA/CoA in the subcellular compartments. Alternate splicing results in multiple transcript variants; additional transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 7829107,15489334,15099582,12562770,12526798,12477932,12077440,11001805,7945262,1456745,19913121,20628086,20677014,20877624,16756494,19553674 1384 NM_000755,NR_028048,AL158151,CH471090,X79825,AK313931,BC000723,BI752361,BQ068230,BT006801,CR596033,CR615872,X78706 NP_000746,CAI12869,CAO03335,CAO03336,EAW87873,EAW87874,EAW87875,AAH00723,AAP35447,CAA55359,P43155,CAX15250 Hs.12068 CAT1 CAT|carnitine O-acetyltransferase|carnitine acetylase|carnitine acetyltransferase protein-coding 1320564 CRB1 crumbs homolog 1 (Drosophila) This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined. [provided by RefSeq] 1600967,1600966,1580863 20591486,8646891,8001962,17353931,10508521,19407021,18682814,18334942,17988153,17724218,16936081,16767206,16710414,16543197,16505055,16272259,15914641,15623792,15459956,15024725,12843338,12700176,12573663,12567265,11927608,11850624,11734541,11559858,11389483,11231775,10373321,20805571,12477932,19753312,20032318,20801516,20816195 1600967,1600966 23418 NG_008483,AL136322,AL139136,AL513325,CH471067,AB208923,AF154671,AJ748821,AK289733,AK299367,AK299368,AK302818,AK302826,AK307844,AY043323,NM_201253,DC370545,DC370777,NM_001193640,AY043324,AY043325,BC136271,BC143726,BX640729 NP_957705,CAI16644,CAI16645,CAI16646,CAI15310,CAI15311,CAH72584,EAW91277,BAD92160,AAF01361,CAG38658,BAF82422,BAH13017,BAH13018,BAH13810,BAH13812,NP_001180569,AAL10680,AAL10681,AAL10682,AAI36272,CAE45845,P82279,Q59H36,Q8WWY1,CAM21656,CAM17208 Hs.126135 LCA8|RP12 crumbs homolog 1 protein-coding 1347869 CRB2 crumbs homolog 2 (Drosophila) 20299451,17988153,17190600,15851977,15164053,14767562,14702039,11439336,20583170 286204 NM_173689,AL365504,AL445489,CH471090,AK095783,AK123000,AK124819,AK126775,AY720432 NP_775960,CAI41011,CAI39793,EAW87567,EAW87568,BAC04626,BAC86684,AAU14134,Q5IJ48,Q8N930 Hs.710092 FLJ16786|FLJ38464|RP11-230L22.2 crumbs homolog 2|crumbs-like protein 2 protein-coding 1348954 CRB3 crumbs homolog 3 (Drosophila) This gene encodes a member of the Crumbs family of proteins. This protein may play a role in epithelial cell polarity and is associated with tight junctions at the apical surface of epithelial cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 17988153,17646395,15976445,15489334,15146197,14718572,12975309,12771187,12527193,12477932,11964389 92359 NM_174881,AC010503,CH471139,AF503290,AK000653,AK292956,AY103469,AY358684,BC002652,BC018409,BM129809,CN403242,NM_139161 NP_631900,NP_777377,EAW69083,EAW69084,EAW69085,EAW69086,AAM23013,BAF85645,AAM44074,AAQ89047,AAH02652,AAH18409,Q9BUF7 Hs.150319 crumbs 3|crumbs protein homolog 3 protein-coding 1321492 CRBN cereblon 737633,1580863 17380424,15557513,15489334,14702039,12477932,10932263,10931946,16964240,18414909,19615732,20131966,17207965 737633 51185 AC024060,CH471055,AF117230,AK027507,AK058191,AK123077,AK301423,AK312577,AL711072,NM_016302,BC017419,BC059171,BC067811,BX647351,CR608669,CR617747,CR627060,AA991754,DB456585,NG_016864,NM_001173482 NP_057386,EAW63890,EAW63891,EAW63892,EAW63893,EAW63894,EAW63895,EAW63896,EAW63897,AAF17211,BAB55162,BAG62951,BAG35471,AAH17419,AAH67811,CAH10361,Q96SW2,NP_001166953,ADQ31943 Hs.18925 DKFZp781K0715|MGC27358|MRT2A OTTHUMP00000209555|protein cereblon|protein x 0001 protein-coding 1601760 CRCP CGRP receptor component This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 19913063,20099900,20379614,11937264,11804624,11754963,10903324,12482973,8622957,10067875,19053766,18636754,17853344,16406141,16344560,15636430,15592455,15489334,14702039,12490608,12477932,12391170,12128288 27297 NM_014478,NM_001040647,NM_001040648,NM_001142414,NR_024548,AC068533,CH236961,CH471140,AF073792,AK023295,AK290553,AK303737,AK311829,BC040107,BC052570,BC105808,BI600330,BX647867,DA821665,DA955978,DB472426,U51134 NP_055293,NP_001035737,NP_001035738,NP_001135886,EAX07941,EAX07942,EAX07943,AAC25992,BAF83242,BAG64710,BAG34771,AAH40107,AAI05809,CAI46069,AAD05036,O75575 Hs.300684 CGRP-RCP|MGC111194|RCP|RCP9 CGRP-receptor component protein|CGRPRCP|DNA-directed RNA polymerase III subunit RPC9|RNA polymerase III subunit C9|calcitonin gene-related peptide-receptor component protein|hsC17 protein-coding 1353300 CRCT1 cysteine-rich C-terminal 1 16710414,16169070,12477932,11230159 54544 NM_019060,AL135842,CH471121,AJ243662,BC119710,CR457218 NP_061933,CAI23351,EAW53379,CAB65093,AAI19711,CAG33499,Q9UGL9 Hs.110196 C1orf42|NICE-1 cysteine-rich C-terminal protein 1|protein NICE-1 protein-coding 730886 CREB1 cAMP responsive element binding protein 1 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863,1625706,734815,734818,734817,734816 16980615,20211142,20685939,20943350,20498639,20541704,19279000,20536573,20805990,20881124,20936779,20032081,20693566,12091337,11988318,11909979,11698596,11377386,11313407,11175347,11160957,11156964,11046156,11018520,10909971,10886376,10720489,10650954,10567391,10074179,9792677,9558095,9413984,9388250,8887554,8688081,8628277,8449898,8384217,8381074,7809053,7621901,7619208,7608156,7554179,7551568,7505393,2142528,2142119,1966745,1831258,1655749,1461747,1386673,16339753,15691881,15073328,12196545,11259575,10866654,10848610,9786917,8663317,11500364,9671480,10506141,10945975,7565761,15897899,16007092,15961999,15806162,7769693,15454081,15688015,15879136,15837624,15753290,15694837,15691874,15615708,15588513,15579595,15500908,15489334,15340044,15153340,15082775,15077295,14962944,14764597,14761884,14754893,14742439,14702039,14646589,14597636,14597631,14580193,14523007,14506290,12851637,12829027,12805224,12773552,12743114,12720543,12690113,12676584,12622660,12567184,12552083,12519783,12477932,12437352,12391222,12391146,12368293,12235136,12220644,12200150,12198160,12183445,12162494,12145339,8552098,8798441,2974179,9687510,9770464,9829964,19351775,19340314,19289467,19251839,19244110,19223597,19211892,19201889,19199539,19196967,19194961,19164291,19156168,19138976,19136032,19070599,18988190,18930904,18922788,18801732,18792986,18775326,18717645,18713830,18678793,18676828,18660489,18626018,18606955,18599546,18554190,18511806,18485898,18483184,18457359,18396147,18375384,18287226,18189280,18160048,18070920,18034423,18024382,18022816,17975014,17909078,17889508,17827388,17822787,17805329,17786359,17727817,17724745,17712720,17661722,17646388,17592483,17573727,17565603,17565599,17565598,17565597,17548750,17507637,17476304,17460549,17455223,17449469,17426037,17389598,17310988,17300755,17289023,17276404,17202341,17169345,17082618,16978443,16963449,16920714,16896160,16822311,16820098,16598418,16483570,16449647,16306050,16227528,16207795,16207717,16169070,16158061,16134057,15999345,15917247,15901830,19913121,20033853,20628086,20643483,20682687,10781615,11013247,15733869,15964553,16223362,16282323,16293623,16325578,16675956,16799563,18029348,19001277,19113914,19298866,19416972,19426590,19473990,19517574,19531482,19548263,19553322,19561568,19578717,19614745,19632326,19632997,19718656,19762740,19797430,19815709,19822084,19822898,19844206,19874574,19875824,19956847,20018896,20037212,20089855,20097716,20100571,20101207,20160059,20198332,20198339,20219685,20237496,20402410,20468064,20533262,20599715,20136501,20407090,15276183,16330542,20624818,21084670 1625706,734815,734818,734817,734816 1385 NG_023299,NM_134442,NM_004379,AC009298,AC079767,CH471063,S53722,S53724,S72459,AK091534,AK095116,AK123952,AK126342,AK298740,AK302333,AK312747,AK315226,AW205606,AY347527,BC010636,BC095407,BT019509,CR407617,CR621261,DC366797,M27691,M34356,S78693,S78695,X55545,X60003,CS542417 NP_604391,NP_004370,AAX88961,AAX93174,EAW70405,EAW70406,EAW70407,EAW70408,EAW70409,EAW70410,AAD13869,AAB20597,BAH12862,BAH13677,BAG35615,BAG37655,AAQ24858,AAH10636,AAH95407,AAV38316,CAG28545,AAA35715,AAA35716,AAA35717,AAB34949,AAB34950,CAA39151,CAA42620,P16220,Q16366,Q16367,Q4ZG78,Q53RU9,Q53X93,Q5U0J5,Q6V963,ABM82083,ABM85262,CAM91158 Hs.516646 CREB|MGC9284 CREB-1|OTTHUMP00000206661|OTTHUMP00000206662|OTTHUMP00000206667|active transcription factor CREB|cAMP-response element-binding protein-1|cAMP-responsive element-binding protein 1|cyclic AMP-responsive element-binding protein 1|transactivator protein protein-coding 1318829 CREB3 cAMP responsive element binding protein 3 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element, an octameric palindrome. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq] 1580863 18391022,18189280,17296613,17192849,16940180,15705566,15489334,15001559,12477932,12271126,12138176,10984507,10675342,10629049,10623756,9389645,9271389,17054986,9658067,16189514,12235138,20546900,20473547,12805554,19779205 10488 CR593747,CR596870,CR597898,CR605383,CR605398,CR610001,CR623420,CR624840,U88528,AF211847,AL133410,CH471071,U59629,AF009368,AF029674,AF211848,AK299781,AK313635,BC009402,BC010158,BG701230,BQ014045,CR590344,CR590714,NM_006368,FJ263669 AAC04325,O43889,ABZ92397,NP_006359,AAG43527,CAI10980,EAW58350,EAW58351,AAD09210,AAB69652,AAB84166,AAG43528,BAG61663,BAG36394,AAH09402,AAH10158,ACN32251 Hs.522110 LUMAN|LZIP|MGC15333|MGC19782 CREB-3|basic leucine zipper protein|cAMP-responsive element-binding protein 3|cyclic AMP response element (CRE)-binding protein/activating transcription factor 1|cyclic AMP-responsive element-binding protein 3|transcription factor LZIP-alpha protein-coding 1342471 CREB3L1 cAMP responsive element binding protein 3-like 1 1580863 21041443,16344560,12805554,12477932,12054625,9110174,8619474,17721195 90993 NM_052854,AC116021,CH471064,AB063321,AF055009,AK075538,AK314072,BC014097,BC015781,BQ953032,DA693632 NP_443086,EAW68010,BAC01278,BAC11681,BAG36772,AAH14097,AAH15781,Q96BA8,ABM86735,ABW03816 Hs.405961 OASIS BBF-2 homolog|cAMP-responsive element-binding protein 3-like protein 1|cyclic AMP-responsive element-binding protein 3-like protein 1|old astrocyte specifically induced substance|old astrocyte specifically-induced substance protein-coding 1314429 CREB3L2 cAMP responsive element binding protein 3-like 2 CREB3L2 is a member of the old astrocyte specifically induced substance (OASIS) DNA binding and basic leucine zipper dimerization (bZIP) family of transcription factors, which includes CREB3 (MIM 606443) and CREB4 (MIM 607138).[supplied by OMIM] 17178827,17117415,12915480,12690205,12477932,19212619,18757431,17721195,20379614,20471519,21041443 64764 AC009263,AC022173,CH236950,CH471070,AJ549092,AJ549093,AJ549094,AJ549387,AK131517,AK293048,AL080209,BC015585,BC046181,BC063666,BC110813,NM_194071,BC131723,BQ711676,BX648300,BX649143,CR749563 NP_919047,EAL24050,EAW83878,EAW83879,EAW83880,CAD79342,CAD79343,CAD79344,CAD79347,BAD18659,BAF85737,AAH46181,AAH63666,AAI10814,AAI31724,CAH18360,Q68D60,Q70SY1,Q70T20,Q70T21,Q86VD4,ABZ92049 Hs.726238 BBF2H7|MGC131709|MGC71006 B-ZIB transcription factor|BBF2 human homolog on chromosome 7|FUS/BBF2H7 protein|OTTHUMP00000208573|TCAG_1951439|basic transcription factor 2|cAMP-responsive element-binding protein 3-like protein 2|cyclic AMP-responsive element-binding protein 3-like protein 2 protein-coding 1317760 CREB3L3 cAMP responsive element binding protein 3-like 3 CREB3L3 is a liver-specific transcription factor and member of the CREB/ATF transcription factor family (Omori et al., 2001 [PubMed 11353085]).[supplied by OMIM] 19679815,17875199,16713569,15221005,12805554,12477932,12039695,11353085,16469704 84699 NM_032607,AC005620,AC016586,CH471139,AB050902,AB073612,AK172839,AK313099,BC101504,BC101508,BC143609,BC143610 NP_115996,AAC34469,EAW69260,EAW69261,BAB47242,BAD38649,BAD18804,BAG35923,AAI01505,AAI01509,AAI43610,Q68CJ9,Q9Y4A3,ABZ92411 Hs.247744 CREB-H|CREBH|HYST1481|MGC126553|MGC126557 CREB/ATF family transcription factor|cAMP-responsive element-binding protein 3-like protein 3|cyclic AMP-responsive element-binding protein 3-like protein 3|transcription factor CREB-H protein-coding 1347233 CREB3L4 cAMP responsive element binding protein 3-like 4 cAMP response element-binding (CREB) proteins are a family of mammalian transcription activators. For further background information on CREB proteins, see CREB1 (MIM 123810).[supplied by OMIM] 17712038,16236796,12477932,12111373,11956138,11830526 148327 BX647716,CR592077,CR610829,CR621422,CR624400,CR624438,AB052781,AL358472,CH471121,AB052778,AF394167,AF468007,AK297703,AK304259,AK304665,AY049977,NM_130898,BC038962 AAH38962,Q5T4K9,Q5T4L2,Q8TEY5,ABZ92414,ACE87807,ACE87849,NP_570968,BAC45224,CAI14023,CAI14024,CAI14025,CAI14026,CAI14027,EAW53251,EAW53252,EAW53253,EAW53254,EAW53255,EAW53256,EAW53257,EAW53258,BAC45035,AAL76113,AAO33070,BAG60061,BAG65125,BAG65440,AAL13157,ACT64368,ACT64475 Hs.372924 AIBZIP|ATCE1|CREB3|CREB4|JAL|hJAL CREB-4|androgen-induced basic leucine zipper protein|attaching to CRE-like 1|cAMP responsive element binding protein 1|cAMP-responsive element-binding protein 3-like protein 4|cAMP-responsive element-binding protein 4|cyclic AMP-responsive element-binding protein 3-like protein 4|cyclic AMP-responsive element-binding protein 4|tisp40|transcript induced in spermiogenesis protein 40 protein-coding 1606026 CREB5 cAMP responsive element binding protein 5 The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 18839057,20080650,20379614,8378084,19240061,18519826,15489334,14702039,12853948,12477932,11329013,9847074,8440710 9586 BX282747,L05515,L05911,L05912,L05913,NM_182899,NM_182898,NM_004904,NM_001011666,AC003074,AC005013,AC005105,AC006331,AC006367,AC006980,CH236948,CH471073,AB209262,AB451409,AK057151,AK292916,AK300455,AK316187,BC059400,BG199550 AAH59400,AAA52072,AAC37525,AAC37527,AAC37526,Q02930,Q59G47,Q75N02,NP_878902,NP_878901,NP_004895,NP_001011666,AAS00387,AAP22329,EAW93908,EAW93909,EAW93910,BAD92499,BAG70223,BAF85605,BAG62175,BAH14558 Hs.437075 CRE-BPA CREB-5|H_GS165L15.1|cAMP response element binding protein CRE-Bpa|cAMP response element-binding protein CRE-BPa|cAMP responsive element binding protein 5 isoform alpha|cAMP-responsive element-binding protein 5|cyclic AMP-responsive element-binding protein 5 protein-coding 619552 CREBBP CREB binding protein This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1298794,1581226,1581227,1580863,2302032,2302136,2302137,734820,734819,1300048,2316155,2326123 17707401,17704997,17702016,17641689,17579344,17548929,17468767,17460549,17434128,17410209,17332504,17321669,17296583,17272271,17253932,17126870,17073437,17052327,16969114,16926151,16916647,12569367,12566391,12549909,12540838,12527917,12498683,12496368,12477932,12473110,12459554,12456660,12437352,12433930,12391146,12374746,12242694,12234245,12215533,12208951,12205094,12196545,12189208,12183445,12168567,12165799,12154097,12142048,12114483,12101239,12084707,12050117,11973335,11971985,11970865,11959977,11943779,11940655,11940575,11935299,11931765,11923478,11912212,11897665,11884585,11864910,11864601,11823864,11799127,11782467,11748222,11744733,11740489,11739381,11713256,11691934,11689696,11683914,11585930,11581372,11574547,11568182,11564893,11564891,11559821,11547919,11514544,11481323,11463834,11463815,11463380,11429405,11423988,11349124,11331617,11279015,11278547,11266503,11264541,11259575,11252719,11239394,11160671,11157802,11154691,11115394,11113179,11259590,12748276,11158331,10567404,15782138,2176177,16007092,15710329,15380363,15653507,15454081,15502848,15383283,15619633,15607964,15829968,15808510,9346901,15225550,10764767,15225551,20684013,16055500,16319895,16579968,17172643,17226766,19166313,19948376,20936779,20413592,8621548,11742995,9194565,7913207,8028671,12435739,12586840,8684459,15261140,12169688,19270680,19191321,19183483,19156168,19124506,19041714,19011377,18696186,18688873,18678383,18676374,18660489,18552833,18480431,18443043,18400184,18362468,18272581,18243132,18160400,18070920,17962194,17932106,17908689,17855048,17825790,17724614,17721610,16858508,16786139,16709925,16707484,16672767,16651533,16613851,16611888,16598755,16528103,16476742,16417649,16359492,16293623,16287980,16254053,16219772,16219677,16207717,16195339,16166624,16122695,16061203,16055710,16051665,16050810,16021471,16012757,16001085,15987788,15961999,15957955,15937088,15929978,15910736,15882811,15834423,15833741,15752756,15750622,15703171,15701835,15695802,15687488,15649887,15641773,15623506,15616580,15572674,15555599,15522869,15509593,15507449,15467747,15333839,15304484,15299023,15735682,15706485,15231748,15171256,15161102,15126506,15075319,15024056,14974086,14960326,14767476,14759370,14744133,14734447,18485870,12426395,18426857,11163245,10558993,9443979,15691881,15073328,12198160,12700228,11782371,9926942,11076796,17525332,10848596,9295363,12509444,9488450,12810069,9822653,15140884,11931769,9001254,11080476,11003650,11106745,10973497,10944526,10918613,10894151,10893273,10887155,10866662,10866654,10862050,10852958,10848610,10848577,10823891,10811635,10801418,10801129,10783242,10777539,10748110,10722728,10673036,10666450,10655477,10644760,10610177,10607594,10521456,10497212,10490106,10464260,10454579,10454341,10435624,10428834,10406465,10358095,10347196,10327051,10215616,10202154,10085149,10085123,10077561,10075717,10075656,10050886,9990060,9887100,9858599,9811832,9809062,9806899,9786917,10708567,9751061,14720327,14716005,14691252,14660657,14657027,14645221,14612417,14597638,13678586,12964026,12947046,12929931,12857754,12789342,12788643,12776737,12748286,12736710,12732631,12730195,12696060,12682370,12665568,12665567,12646247,12642036,12634356,12622724,12604599,9742083,9733868,9710619,9685505,9679056,9659901,9651391,9649342,9625762,9548485,9528808,9528793,9482849,9445475,9434765,9430642,9413984,9388250,9267036,9238849,9238046,9210395,9177780,9096323,9006899,8986769,8941362,8932363,8918891,8917528,8848048,8782817,8756728,8663317,8616895,8413673,7630403,7606928,2138276,1519642,16146763,16046164,16035254,15638724,15473004,15183343,15139295,16339753,15725353,15142377,12015309,20125191,20588308,20207472,20452968,20833730,16860316,16878156,17000779,17043108,17075044,18765668,20932315,10428837,15488321,16043483,16098148,16291753,16543236,16931570,17382325,17923090,17970752,18316612,18347063,19117933,19350377,19555349,19578754,19589780,19805293,19833603,19852432,20096957,9037008,9194564,9687573 1298794,1581226,1581227,2302032,2302136,2302137,734820,734819,2316155,2326123 1387 HI574324,HI574326,NM_004380,NG_009873,AC004509,AC004651,AC004760,AC006111,AC007151,CH471112,CS330044,AB210043,AK124320,AK304771,BC036486,U47741,U85962,U89354,U89355,NM_001079846 CBX47651,CBX47652,NP_001073315,NP_004371,AAC08447,AAC17736,EAW85334,EAW85335,EAW85336,EAW85337,CAL00150,BAE06125,BAG65526,AAH36486,AAC51770,AAC51331,AAC51339,AAC51340,O60424,Q4G0V0,Q4LE28,Q712H6,Q75MY6,Q92793 Hs.459759 CBP|KAT3A|RSTS CREB-binding protein protein-coding 1319876 CREBL2 cAMP responsive element binding protein-like 2 cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq] 1580863 9693048,14702039,12477932,9171997,8653712 1389 NM_001310,AC008115,CH471094,AB451461,AF039081,AK002189,AK307202,BC104873,BC106052,BC112157,CR542250,CR601775,CR605497,CR612195 NP_001301,EAW96268,EAW96269,EAW96270,BAG70275,AAC32314,AAI04874,AAI06053,AAI12158,CAG47046,O60519 Hs.591156 MGC117311|MGC138362 cAMP-responsive element-binding protein-like 2 protein-coding 1603614 CREBZF CREB/ATF bZIP transcription factor 10871379,15705566,19016376,18719857,18657049,16344560,16343488,16282471,15489334,15146197,12477932,12235138,19690166 58487 NM_001039618,NR_028024,NR_028025,NR_028026,NR_028027,AP000642,CH471076,AF039942,AK313471,AL045702,AL110236,BC060807,BC093796,BC093798,BF063403,BM461709,BQ720558,CA843387,CN275782,DB212122,DB546868,DQ128105 NP_001034707,EAW75103,AAD28325,BAG36256,AAH60807,AAH93796,AAH93798,AAZ42189,Q9NS37,ABZ92408 Hs.535319,Hs.714910,Hs.723938 FLJ94018|SMILE|ZF CREB/ATF bZIP transcription factor|HCF-binding transcription factor Zhangfei|SHP-interacting leucine zipper protein|Zhangfei|host cell factor-binding transcription factor Zhangfei protein-coding 1348156 CREG1 cellular repressor of E1A-stimulated genes 1 The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq] 1580863 12477932,9710587,19536175,19064610,18472385,18267954,16710414,16344469,16303743,15489334,15340161,14702039,12975309,12934103,12358155,10815803,19413895,19769965,20951690,20060003 8804 NM_003851,AL031733,CH471067,AF084523,AK075375,AK095456,AK130006,AK315497,AY359071,BC006786,BC008628,BI552369,CR594091,CR603354,CR607435,CR609800,CR611446,CR616545,CR622061,CR623745,CR625312,CR626333 NP_003842,CAB42866,EAW90794,EAW90795,AAC34861,BAG52125,BAC04550,BAG37881,AAQ89430,AAH06786,AAH08628,O75629,ABM82057,ABM85236 Hs.5710 CREG protein CREG1 protein-coding 1350803 CREG2 cellular repressor of E1A-stimulated genes 2 15489334,14702039,12477932,12408961 200407 NM_153836,AC092570,AC099797,CH471127,AB046109,AK094970,BC032949,BC047514 NP_722578,AAX82005,AAX88886,EAX01814,EAX01815,EAX01816,BAC22189,BAC04464,AAH32949,AAH47514,Q4ZFW3,Q580X0,Q8IUH2 Hs.30917 protein CREG2 protein-coding 1319745 CRELD1 cysteine-rich with EGF-like domains 1 Epidermal growth factor (EGF; MIM 131530)-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface. CRELD1 is the founding member of a family of matricellular proteins.[supplied by OMIM] 1600967,1580863 20634891,18076106,16381901,16344560,16169070,15857420,15489336,15489334,12975309,12632326,12477932,12137942,11230166,11076863,21080147,10922384,16278904,17036335,19521671,8889548 1600967 78987 NM_015513,NM_001031717,NM_001077415,AC018809,CH471055,AF452623,AK314113,AL050275,AY358363,BC008720,BX358821,CD368927,CR457380,CR595434,CR597786,CR598110,CR617554,CR619189,CR620158,DA145918,BF182978,BM674728,DN996843,NG_017069 NP_056328,NP_001026887,NP_001070883,EAW64034,EAW64035,EAW64036,EAW64037,EAW64038,EAW64039,EAW64040,EAW64041,EAW64042,EAW64043,AAM75206,BAG36806,CAB43376,AAQ88729,AAH08720,CAG33661,Q96HD1,CAL38223,CAL38687 Hs.9383 AVSD2|CIRRIN|DKFZp566D213 OTTHUMP00000207638|OTTHUMP00000207639|cysteine-rich with EGF-like domain protein 1 protein-coding 1603954 CRELD2 cysteine-rich with EGF-like domains 2 16919896,16238698,12975309,12477932,12137942,9373149,8125298,15489334,15340161 79174 NM_001135101,NM_024324,AL671710,CH471138,AJ968414,AK225930,AK308535,AL713788,AY358355,BC002894,BC050675,DQ470676,DQ470678,DQ470679,DQ470680,DQ470677 NP_001128573,NP_077300,CAO72065,CAO72066,CAO72067,CAO72068,CAO72069,CAO72070,EAW73483,EAW73484,CAI91316,CAH56485,AAQ88721,AAH02894,AAH50675,ABF06668,ABF06669,ABF06670,ABF06671,ABF06672,Q659B4,Q6UXH1 Hs.211282 DKFZp667O055|MGC11256 OTTHUMP00000196976|cysteine-rich with EGF-like domain protein 2 protein-coding 735941 CREM cAMP responsive element modulator This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq] 1581291,632385,1580863 20488182,20413592,8206879,7916662,19299714,18984674,18922788,18784739,18700132,18202121,18029348,17712720,17340624,17332439,17211988,17056544,16899810,16894555,16893891,16687568,16344560,16143638,16103121,16048633,15841182,15691874,15569686,15474076,15456763,15225122,15048659,14754893,14511788,12805554,12626549,12555239,12554693,12477932,12397208,12370343,12198160,11988318,11701720,11094064,11044457,10853989,10660577,10409662,10373550,10086359,9737722,9510963,9006899,8994192,8622971,8600391,8600390,8549766,8404858,7809053,7730336,1461747,11046156,11053263,16385451,19434522,19531482,20237496,20378615 1581291,632385 1390 CR621145,D14825,D14826,S68134,S68271,U44836,Y08959,Z15159,NM_182853,NM_183013,NM_182850,NM_001881,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_182769,NM_182770,NM_182717,NM_182719,NM_182720,NM_182718,NM_182723,NM_182722,NM_182725,NM_182721,NM_182724,AF212158,AF213899,AF217318,AL117336,AL157783,CH471072,AB209533,AF069065,AF417234,AK289379,AK290612,AK291566,AK301906,AU140010,AY292864,BC017117,BC041810,BC066342,BC090051,BE439480,BG573680,BG719264,BX379412,CR601807,CR613240,CR614277 BAA03562,BAA03564,BAA03565,BAA03566,BAA03567,AAC60617,AAC60616,AAB03751,CAA78858,Q03060,Q14501,Q59FC7,Q5T9H8,Q5T9I5,Q5W1A7,Q5W1B0,Q5W1B2,Q96AG7,NP_878273,NP_898831,NP_878270,NP_001872,NP_853549,NP_898883,NP_898829,NP_898830,NP_877572,NP_877573,NP_877570,NP_877571,NP_874386,NP_874388,NP_874389,NP_874387,NP_874392,NP_874391,NP_874394,NP_874390,NP_874393,AAF68266,AAF66158,AAF68682,CAH72495,CAH72496,CAH72497,CAH72498,CAH72499,CAH72500,CAI12137,CAI12138,CAI12139,CAI12140,CAI12141,CAI12142,CAI12143,CAI12145,CAI12146,CAI12147,EAW85916,EAW85917,EAW85918,EAW85919,EAW85920,BAD92770,AAC19383,AAN32656,BAF82068,BAF83301,BAF84255,BAG63333,AAP44115,AAH17117,AAH66342,AAH90051 Hs.200250 ICER|MGC111110|MGC17881|MGC41893|hCREM-2 OTTHUMP00000019442|OTTHUMP00000019443|OTTHUMP00000019445|OTTHUMP00000019447|OTTHUMP00000216745|OTTHUMP00000216746|OTTHUMP00000216747|OTTHUMP00000216748|OTTHUMP00000216749|OTTHUMP00000216791|OTTHUMP00000216792|OTTHUMP00000216822|OTTHUMP00000216835|OTTHUMP00000216838|OTTHUMP00000216839|OTTHUMP00000216840|OTTHUMP00000216842|OTTHUMP00000216843|OTTHUMP00000216844|OTTHUMP00000216859|OTTHUMP00000216860|OTTHUMP00000216861|OTTHUMP00000216917|cAMP response element modulator|cAMP-responsive element modulator|hCREM 2alpha-b protein|hCREM 2beta-a protein|inducible cAMP early repressor ICER protein-coding 1343993 CRG CHARGE association 1391 730946 CRH corticotropin releasing hormone Corticotropin-releasing hormone (CRH) is a 41-amino acid peptide derived from a 191-amino acid preprohormone. CRH is secreted by the paraventricular nucleus (PVN) of the hypothalamus in response to stress. Marked reduction in CRH has been observed in association with Alzheimer disease and autosomal recessive hypothalamic corticotropin dificiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, CRH is also synthesized in peripheral tissues, such as T lymphocytes and is highly expressed in the placenta. In the placenta CRH is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of CRH occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, CRH may act as a trigger for parturition. [provided by RefSeq] 1581300,1581301,1580863,704397,704394,704392,704396,704393,1358525,625745,1358326,704423,704425,704424 7867564,7585095,7477348,18329818,19527514,19453261,19404232,19258402,19246974,19190112,19177170,19131402,19127063,19086053,19031275,19019335,18996102,18844820,18838498,18818748,18803662,18662259,18597742,18456686,18404132,18384079,18295412,18234674,18212352,18182033,17959886,17766644,17693031,17676473,17667919,17568667,17554801,17068474,16984517,16740657,16734917,16675846,16639867,16523405,16446741,16309788,16303743,16245303,16222669,15883387,15816833,15591024,15489334,15468147,15126558,15077295,15072543,14706771,14698679,14675801,14675201,14667971,14576187,14573312,12853091,12784189,12734882,12679466,12583606,12477932,12450317,12429558,12154211,12114295,12062896,12051390,12011471,11936276,11932939,11854458,11555839,11511529,11406119,11341487,11182747,11168450,12036966,20472145,20140262,20626567,11140838,10822340,9783915,9620773,9178757,8386360,8243338,8161822,7589495,7489943,6605851,3262120,3259914,2783917,2365075,10598591,9423932,20602615,17294739,18240029,19409922,19450691,19460861,19628576,19723618,19874574,19889985,20043013,20047160,20368512,20403506,20468064 1581300,1581301,704397,704394,704392,704396,704393,1358525,625745,1358326,704423,704425,704424 1392 V00571,X55962,X67661,AK075431,BC002599,BC011031,BT007453,CR592854,CR603754,CR617485,CR619891,CR625216,CR626513,NM_000756,AC090195,CH471068,NG_016127 CAA23834,BAG52136,AAH02599,AAH11031,AAP36121,P06850,NP_000747,EAW86897 Hs.75294 CRF corticoliberin|corticotropin-releasing factor protein-coding 730851 CRHBP corticotropin releasing hormone binding protein Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq] 1580863,1358530 7477348,1846945,19578876,19527514,19453261,19131402,19086053,19019335,18974851,18838498,18818748,18234674,17728670,17599466,16734917,16482088,16368564,15489334,15072543,14573312,12784189,12477932,9373149,9253360,8612563,8557170,8307998,8198617,8125298,7774945,2549150,17207965,20140262,21039637,19723618,19874574,20351714,20368512,20379614,20403506 1358530 1393 NM_001882,AC027342,CH471084,S60697,AK223457,AK307729,AK311052,AW451896,BC018038,CB959505,CR541666,CR592351,CR594674,CR606509,CR616423,CR622343,CR625877,X58022 NP_001873,EAW95785,EAW95786,AAD13916,BAD97177,AAH18038,CAG46467,CAA41086,P24387,ADQ32339 Hs.115617 CRF-BP|CRFBP CRF-binding protein|CRH-BP|OTTHUMP00000222031|corticotropin releasing hormone-binding protein|corticotropin-releasing factor-binding protein|corticotropin-releasing hormone-binding protein protein-coding 734061 CRHR1 corticotropin releasing hormone receptor 1 This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. 1626226,1581302,734822,734821,1580863,1358326 10598591,8243652,7692441,7585095,19336370,19247692,19220485,19210659,19131402,19124613,19098121,19086053,19081678,19022385,19019335,19006179,18996102,18981346,18838498,18818748,18801728,18622266,18565889,18539200,18496130,18452185,18384079,18325997,18250257,18239030,17959885,17913459,17667919,17597588,17532191,17463062,17376150,17330132,17318384,17258395,17170072,17047935,17015825,17010515,16959871,16906164,16815632,16734917,16721033,16550213,16484629,16415175,16412099,16297195,16113459,15992556,15784708,15670850,15498832,15450949,15365580,15293277,15252011,15206947,15203442,15192151,15142984,15128701,15100165,14764822,14724656,14684825,14657255,12784189,12519878,12504877,12477932,11861501,11606483,11425856,11416224,9757017,9661640,9423932,9253360,9178757,8889548,8612563,7916328,7811272,7590738,20843795,21123435,18577758,20594969,20702571,12036966,20630588,19913121,20010888,20602615,20628086,20673868,17294739,18240029,18772229,19409922,19432998,19433256,19453261,19527514,19548263,19590686,19596121,19607758,19663668,19697526,19723618,19736354,19750552,19801982,19844206,19874574,19878140,20029939,20161813,20233629,20351714,20368512,20374216,20403506,20452482,20468064,20734064 1626226,1581302,734822,734821,1358326 1394 NM_001145146,NM_001145147,NM_001145148,NG_009902,AB065967,AC003662,AC106030,AF039523,AF488558,CH471233,AB451466,AF180301,AF369652,NM_004382,AY429529,AY457172,BC037967,BC096836,CK299669,EU176016,L23332,L23333,U16273,X72304,AF374231,AC217770,AC217771,FJ543100 Q8WXR6,NP_004373,NP_001138618,NP_001138619,NP_001138620,BAC06179,AAC69993,AAM55213,EAW93556,EAW93557,EAW93558,EAW93559,EAW93560,BAG70280,AAD52688,AAL46632,AAL39014,AAR19768,AAH96836,ABV80233,AAA35718,AAA35719,AAC50073,CAA51052,P34998,Q8NFN9,Q8NG71,Q8WXR0,ACU68591 Hs.417628 CRF-R|CRF1|CRFR1|CRH-R1h|CRHR|CRHR1L|CRHR1f CRF-R-1|CRF-R1|CRFR-1|CRH-R-1|CRH-R1|corticotropin-releasing factor receptor 1|corticotropin-releasing factor type 1 receptor|corticotropin-releasing hormone receptor 1|seven transmembrane helix receptor protein-coding 733138 CRHR2 corticotropin releasing hormone receptor 2 734823,1580863,1581302,1358326,734987 14724656,14592950,12853948,12784189,12690205,12477932,11857585,11416224,11226328,10822340,9423932,9199241,9070940,8612563,8243338,9717834,11329063,8536644,19527514,19453261,19433256,19351656,19131402,19098121,19086053,19058138,19019335,18996102,18838498,18818748,18443956,18408560,18384079,18325997,17959885,17532191,17463062,17170072,16972272,16884458,16734917,16721033,16691126,16326828,16175604,15652653,15489334,15331578,15146197,14764822,18577758,20594969,11117536,12036966,16344560,20602615,20673868,20140262,20734064,20630588,20966082,15924674,18240029,19813023,19874574,20164545,20351714,20368512,20452482,20468064,20487506 734823,1581302,1358326,734987 1395 NM_001883,AACC02000087,AB065699,AC004976,CH471073,AF011406,AF019381,AF361106,AF361107,AF361108,AK313661,AY449734,BC096830,CN367943,EU012439,EU012440,EU012441,EU012442,EU012443,U34587,Y10151,Y10153,CN367944,DA808296,DB308619,NM_001202475,NM_001202481,NM_001202482,NM_001202483,CS717260 EAL24448,BAC05922,AAC71653,AAC71654,EAW93962,EAW93963,EAW93964,EAW93965,AAB94503,AAB94562,BAG36414,AAR18078,AAH96830,ABV59313,ABV59314,ABV59315,NP_001874,ABV59316,ABV59317,AAA91320,CAA71235,Q13324,NP_001189404,NP_001189410,NP_001189411,NP_001189412,CAP40149 Hs.546246 CRF2|CRFR2 CRF-R-2|CRF-R2|CRFR-2|CRH-R-2|CRH-R2|corticotrophin releasing hormone receptor 2|corticotropin-releasing factor receptor 2|corticotropin-releasing hormone receptor 2 protein-coding 1318641 CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like) Motor neurons are among the earliest neurons to appear after the commencement of cell patterning and the beginning of cell differentiation. Differentiation occurs in a ventral-to-dorsal gradient and is mediated, at least in part, by the concentration of ventrally expressed Sonic hedgehog protein (SHH; MIM 600725). Dorsally expressed factors, such as members of the bone morphogenic protein (e.g., BMP4; MIM 112262) and transforming growth factor-beta (e.g., TGFB1; MIM 190180) families, can repress the induction of these neurons. CRIM1 may interact with growth factors implicated in motor neuron differentiation and survival (Kolle et al., 2000 [PubMed 10642437]).[supplied by OMIM] 1580863 10642437,19260139,15489334,15340161,12975309,12805376,12477932,12464430,11084657,21036735,21042576,21067317,21076409,20379614 51232 AF167706,AK026159,AK300817,AY358371,BC026227,BC111989,BC113371,BX648755,NM_016441,AC007378,AC007401,AC009414,AF168681,CH471053,AB209139 AAF34409,BAG62472,AAQ88737,AAI11990,AAI13372,Q4ZG85,Q53TH9,Q53TR0,Q9NZV1,BAD92376,NP_057525,AAX88862,AAY14649,AAY14679,AAG37011,EAX00426 Hs.699247 CRIM-1|MGC138194|S52 CRIM-1|cysteine-rich motor neuron 1|cysteine-rich motor neuron 1 protein|cysteine-rich repeat-containing protein S52 protein-coding 1348993 CRIP1 cysteine-rich protein 1 (intestinal) Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM] 1580863 9126610,15489334,14702039,12477932,9480758,8172605,7999070,1946385,16169070 1396 NM_001311,AL928654,AK092741,AK098290,BC002738,BQ128075,BT007181,BU500642,U09770,U58630 NP_001302,AAH02738,AAP35845,AAA64537,AAB61158,P50238,ABM83884,ABM87204 Hs.70327 CRHP|CRIP|CRP1|FLJ40971 CRP-1|cysteine-rich heart protein|cysteine-rich intestinal protein|cysteine-rich protein 1|hCRHP protein-coding 1351980 CRIP2 cysteine-rich protein 2 1580863 8824798,16713569,15489334,14702039,12839623,12530967,12477932,10681529,9373149,8843343,8125298,20460109 1397 CR616587,CR617600,CR621315,CR624241,D42123,U36190,NM_001312,AL928654,CH471061,AK057837,AK091845,AK223251,AK311402,AK315757,BC000434,BC001931,BC034151,BC034386,BC128101,BT019911,CR590551,CR590577,CR591408,CR592125,CR602967,CR610735,CR612651,AK300092 BAA07703,AAB03194,P52943,Q53FN1,ABM82308,ABM85485,NP_001303,EAW81924,BAD96971,BAG38110,AAH00434,AAH01931,AAH34151,AAI28102,AAV38714,BAH13206 Hs.534309 CRIP|CRP2|ESP1 CRP-2|Cystein-rich intestinal protein|OTTHUMP00000218028|cysteine-rich protein 2 protein-coding 1343897 CRIP3 cysteine-rich protein 3 15380775,15146197,14574404 401262 NM_206922,AL583834,CH471081,AI042209,AY555741,AY555742,AY555743,AY555744,CN282994 NP_996805,CAI14467,CAI14469,CAM20552,EAX04177,EAX04178,AAS66887,AAS66888,AAS66889,AAS66890,Q5T045,Q6Q6R5,AAI46405,AAI48847 Hs.653165 TLP|TLP-A|bA480N24.2 CRP-3|chromosome 6 LIM domain only protein|cysteine-rich protein 3|h6LIMo|thymus LIM protein TLP-A protein-coding 1602278 CRIPAK cysteine-rich PAK1 inhibitor CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM] 16278681,14702039,12477932 285464 NM_175918,AC118281,CH471131,AA160784,AK091762,AK096209,AK126919,AK128809,BC131709 NP_787114,EAW82583,BAC03741,BAC04725,BAG54397,BAC87616,Q6ZQR7,Q8N1N5 Hs.26410 FLJ34443|MGC150528 cysteine-rich PAK1 inhibitor|cysteine-rich inhibitor of PAK1 protein-coding 736668 CRIPT cysteine-rich PDZ-binding protein 19086053,16713569,16637659,16091592,12477932,12070168,11937501,11744724,11042152,10570482,9581762,20398908,20966902 9419 NM_014171,AC018682,CH471053,AF161488,AK291298,BC006979,BC006980,BC018653,BI857531 NP_054890,AAY14836,EAX00239,AAF29103,BAF83987,AAH06980,AAH18653,Q9P021 Hs.133998 HSPC139 cysteine-rich PDZ-binding protein|cysteine-rich interactor of PDZ three|cysteine-rich interactor of PDZ3|postsynaptic protein CRIPT protein-coding 1603324 CRISP1 cysteine-rich secretory protein 1 Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. This protein is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head where it plays a role at fertilization in sperm-egg fusion through complementary sites localized on the egg surface. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 8838800,8543280,14574404,12477932,12206465,11750738,11566719,9685187,8665901 167 NM_170609,NM_001131,AL359458,CH471081,AB451334,AB451479,AK292497,BC028577,BC131707,D38451,S80310,X95237,X95238 NP_733758,NP_001122,CAC34980,EAX04350,BAG70148,BAG70293,BAF85186,BAA07483,AAB35899,CAA64524,CAA64525,P54107,AAI60072 Hs.109620 AEGL1|ARP|CRISP-1|HSCRISP1D|HSCRISP1G|HUMARP AEG-like protein|AEG-related protein|OTTHUMP00000016592|OTTHUMP00000217766|OTTHUMP00000217767|acidic epididymal glycoprotein homolog|acidic epididymal glycoprotein-like 1|cysteine-rich secretory protein 1|cysteine-rich secretory protein-1 delta|protein DE-like protein-coding 1315322 CRISP2 cysteine-rich secretory protein 2 1580863 8665901,18550510,16759931,15734896,15489334,14574404,12477932,9373149,8125298,2613236,20625511,17207965 7180 NM_001142435,NM_001142408,NM_001142407,NM_001142417,AL121950,CH471081,AK223337,NM_003296,AK292385,AY289796,AY292862,AY292863,AY773479,BC022011,BC107707,M25532,X95239 NP_003287,NP_001135907,NP_001135880,NP_001135879,NP_001135889,CAC10520,EAX04340,EAX04341,EAX04342,EAX04343,EAX04344,EAX04345,EAX04346,EAX04347,BAD97057,BAF85074,AAP41200,AAP44113,AAP44114,AAV48552,AAH22011,AAI07708,AAA61220,CAA64526,P16562,Q53FF2,Q5U8Z9,Q7Z7B2,ADQ31643 Hs.2042 CRISP-2|CT36|GAPDL5|MGC111136|TPX1|TSP1 OTTHUMP00000016589|cancer/testis antigen 36|cysteine-rich secretory protein 2|glyceraldehyde-3-phosphate dehydrogenase-like 5|testis specific protein 1 (probe H4-1 p3-1)|testis-specific protein TPX-1 protein-coding 1352578 CRISP3 cysteine-rich secretory protein 3 1580863 17207965,15461460,12223513,8601434,12009203,12433721,19282327,19026612,17665393,17634540,16388501,15950934,15867000,15489334,20625511,14574404,12647793,12477932,11729383,10614782,9373149,8665901,8125298,20116414,20237496,16344560 10321 NM_006061,AL121950,AL121974,CH471081,AK223380,AK292786,AK303966,AK313387,BC069580,BC069602,BC101539,X94323,X95240,DB206136,DB210604,NM_001190986 ADQ32928,NP_006052,CAI20995,CAI20517,EAX04348,BAD97100,BAF85475,BAG64890,BAG36185,AAH69580,AAH69602,AAI01540,CAA63984,CAA64527,P54108,NP_001177915 Hs.404466 Aeg2|CRISP-3|CRS3|MGC126588|SGP28|dJ442L6.3 OTTHUMP00000016590|cysteine-rich secretory protein 3|cysteine-rich secretory protein-3|specific granule protein (28 kDa)|specific granule protein of 28 kDa protein-coding 1605927 CRISPLD1 cysteine-rich secretory protein LCCL domain containing 1 15342556,21080431,15489334,12975309,12477932 83690 BP357192,BU790187,NM_031461,AC100782,AC102801,CH471068,AF142573,AF329197,AK304034,AK304350,AK314048,AL834301,AY358564,BC020514 NP_113649,EAW87038,AAG43287,AAK16495,BAH14095,BAH14165,BAG36757,CAH56361,AAQ88927,AAH20514,Q9H336 Hs.436542 CRISP10|DKFZp762F133|LCRISP1 CRISP-10|CocoaCrisp|LCCL domain containing cysteine-rich secretory protein 1|LCCL domain-containing cysteine-rich secretory protein 1|cysteine-rich secretory protein 10|cysteine-rich secretory protein LCCL domain-containing 1|trypsin inhibitor Hl protein-coding 1605611 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2 11256614,18391951,17616516,16381901,16344560,15489336,15489334,14702039,12975309,12477932,11230166,11076863,21080431,19864597,19937600,19913121,20628086,20662919,20815724 83716 NM_031476,AC025280,CH471114,CS000922,AK027395,AK056839,AK303887,AK308396,AL136861,AY358790,BC007689,BC018643,BC063012,BQ010162,BQ015624,CR591623,CR593410,CR596827,CR606278,DA325436,DB095807,DB260709 NP_113664,EAW95468,EAW95469,CAI48002,BAB55081,BAG64823,CAB66795,AAQ89150,AAH07689,AAH63012,Q9H0B8,CAL38015 Hs.513779,Hs.617091 CRISP11|DKFZp434B044|LCRISP2|MGC74865 CRISP-11|LCCL domain containing cysteine-rich secretory protein 2|LCCL domain-containing cysteine-rich secretory protein 2|cysteine-rich secretory protein 11|cysteine-rich secretory protein LCCL domain-containing 2 protein-coding 736380 CRK v-crk sarcoma virus CT10 oncogene homolog (avian) This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq] 1580863 20088952,9461587,9395447,9366405,9092574,8879209,8875975,8810325,8662998,8662907,8657152,8621590,8621483,8378094,8194526,8035825,7855886,7797522,7657647,7529876,7512734,7509449,7509446,1690891,1630456,1379745,11279207,15492270,12615911,10085298,9920935,9581808,8940134,9178909,11827972,11431473,1545818,12819203,9393871,10644995,16729043,10559471,10022833,15696159,15735735,15719014,12807879,12738793,12730241,12628187,12621583,12477932,12475948,12454018,12446789,12384576,12370821,12198159,12154000,12138161,12054111,11956190,11911970,11870224,11839808,11466354,11432831,11380621,11369773,11316748,11314030,11287316,11146654,11097834,11071869,10970810,10964504,10899172,10854253,10753828,10733900,10720694,10648385,10571044,10464310,10419455,10362357,10329689,10208419,10092678,10092207,9891069,9845531,9837978,9722576,9674711,9642287,9614078,9546424,9497377,9480911,12878163,9472046,9788432,9819391,11278465,14657239,15886098,16713569,17474147,10748058,9069267,16284401,7806500,19351132,19004829,19001122,18725541,18660489,18602365,18165234,17848169,17825249,17764157,17428306,17399949,17308335,17081983,16849525,16628223,16440329,16413489,16344560,16339550,16275761,16189514,16158059,15831672,15700267,15592455,15522217,15345747,15326184,15263018,15062102,15051508,12970743,2173144,16267043,15834156,19522292,19737974,19760510,19807924,20237902,7537265,7926767,8978305 1398 NM_016823,NM_005206,AC032044,AC100748,CH471108,S65701,AK291060,AU125411,BC001718,BC008506,BC009837,BT007277,CR590790,CR600568,D10656,EU332838 NP_058431,NP_005197,EAW90621,EAW90622,EAW90623,EAW90624,EAW90625,EAW90626,AAB28213,BAF83749,AAH01718,AAH08506,AAH09837,AAP35941,BAA01505,P46108,Q96GA9,ABM82073,ABM85253,ABY87527 Hs.638121 CRKII adapter molecule crk|avian sarcoma virus CT10 (v-crk) oncogene homolog|avian sarcoma virus ct10 (v-crk) oncogene homolog|p38|proto-oncogene c-Crk|v-crk avian sarcoma virus CT10 oncogene homolog protein-coding 1318357 CRKL v-crk sarcoma virus CT10 oncogene homolog (avian)-like This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic. 1580863,1642762 11389015,11334882,11313252,11279207,11167825,11097834,11071635,10945997,10763825,10753869,10753828,10720694,10648385,10608804,10477741,10092207,10022120,9891069,9872990,9858471,9845531,9837784,9820532,9660791,9614078,9590251,9546424,9498705,9461587,9405482,9374471,9344843,9178909,9162067,9092574,9067577,9053848,9020138,8943292,8621483,7493940,8978305,7926767,8810278,11133830,10907644,10204582,15143164,10194128,9747873,10419455,15696170,8798523,9788432,16284401,8361759,18029348,19307307,19004829,18809728,18403635,18165234,18059481,17764157,17161365,16955467,16305332,16289966,15592455,15522217,15489334,15461802,15345747,15167895,15062102,12697763,12665586,12522101,12504004,12477932,12446789,12393632,12244174,11489945,11466412,11466354,11463817,11443118,19913121,20628086,10871282,19168626,19454690,19615732,19966867,8626543 1642762 1399 NM_005207,AC002470,AL049941,CH471176,AA844269,AK000311,AK292909,BC026248,BC033281,BC043500,BC044621,BC053958,CR456423,CR593236,CR625781,X59656,NG_016354 NP_005198,EAX02932,EAX02933,EAX02934,BAF85598,AAH43500,CAG30309,CAA42199,P46109,CAK54415,CAK54714 Hs.5613 OTTHUMP00000198539|crk-like protein protein-coding 733880 CRKRS Cdc2-related kinase, arginine/serine-rich 18029348,19651820,19884882,11683387,19124506,17192257,17081983,16964243,16344560,15302935,15231748,12477932,12168954,10048485,20734064,20952539,12841360 51755 AC009283,CH471152,AB020711,AF227198,AK302645,BC140854,BC150265,BM557102,CB049262,DA026139,NM_016507,NM_015083 NP_055898,EAW60576,EAW60577,BAA74927,AAF36401,BAG63886,AAI40855,AAI50266,Q9NYV4,NP_057591 Hs.416108 CRK7|CRKR|CRKRS|KIAA0904 CDC2-related protein kinase 7|Cdc2-related kinase, arginine/serine-rich|cell division cycle 2-related protein kinase 7|cell division protein kinase 12|protein kinase for splicing component protein-coding 1322794 CRLF1 cytokine receptor-like factor 1 1600970,1580863 15034937,9686600,17436252,17436251,15489334,12975309,12509788,12477932,10966616,15340161,19921088 1600970 9244 NM_004750,AC003112,CH471106,AF059293,AF073515,AF178684,AY358291,BC044634,NG_013370 NP_004741,AAC28335,AAD39681,AAD54385,AAQ88658,AAH44634,O75462,ACE87612,ACE86925,EAW84725 Hs.114948 CISS|CISS1|CLF|CLF-1|NR6|zcytor5 class I cytokine receptor|cytokine receptor-like factor 1|cytokine type 1 receptor CRLP-1|cytokine-like factor 1 protein-coding 1352132 CRLF2 cytokine receptor-like factor 2 Cytokine signals are mediated through specific receptor complexes, the components of which are mostly members of the type I cytokine receptor family. Type I cytokine receptors share conserved structural features in their extracellular domain. Receptor complexes are typically heterodimeric, consisting of alpha chains, which provide ligand specificity, and beta (or gamma) chains, which are required for the formation of high-affinity binding sites and signal transduction.[supplied by OMIM] 1580863 20139093,20378752,20847213,17513717,14702039,11891057,11474172,11418668,11237741,10872831,9373149,8125298,20663412,19641190,19838194,19907440,19965641,20018760,20096461,20109752,20128689,20236697,20466416,20483734,20807819 64109 NM_022148,BX323853,BX908382,CH471074,AB052639,AF142570,AF338733,AK026800,AK223303,AY775789,NM_001012288,GQ280263,HD117897,HH762800,CS390622,CS403716,GM829053,GN090297,HB441732 NP_001012288,NP_071431,CAI95783,EAW98672,BAB60717,AAG27923,AAK60618,BAB15557,BAD97023,AAW66851,Q4V300,Q53FI3,Q5G7M1,Q9HC73,AAI60055,ACX31081,CBX74362,CBX78819,CAL40435,CAL44819,CAV28560,CAX87028,CAZ78684 Hs.287729 CRL2|CRLF2Y|TSLPR IL-XR|P2RY8/CRLF2 fusion|TSLP receptor|cytokine receptor CRL2 precusor|cytokine receptor-like 2|cytokine receptor-like factor 2|thymic stromal lymphopoietin protein receptor|thymic stromal lymphopoietin receptor|thymic stromal-derived lymphopoietin receptor protein-coding 1342810 CRLF3 cytokine receptor-like factor 3 18029348,19291764,18391951,17632510,12665801,12477932,17207965,20628624,20546612,19427400 51379 NM_015986,AC127024,CH471147,AA993312,AF046059,AF120151,AK296238,AK313315,BC023567,BU902521,DQ298450 NP_057070,EAW80297,AAD02422,AAD31758,BAG58957,BAG36120,AAH23567,ABC55264,Q8IUI8,ABM83202,ADQ32200 Hs.370168 CREME9|CYTOR4|FRWS|MGC20661|p48.2 CREME-9|cytokine receptor related protein 4|cytokine receptor-like factor 3|cytokine receptor-like molecule 9|cytokine receptor-related protein 4|type I cytokine receptor like factor|type I cytokine receptor-like factor p48 protein-coding 1322279 CRLS1 cardiolipin synthase 1 19089657,16547353,16341674,15342556,12771218,12477932,11780052,19052923,19048416,19048414,16888643,16716149,16678169,19089659,20877624 54675 NM_019095,NM_001127458,AL035461,CH471133,AF241784,AK310368,AL832419,BC069010,BM763234,BP368984,CR607380,DQ386730 NP_061968,NP_001120930,CAB55278,EAX10399,EAX10400,EAX10401,EAX10402,AAG44472,CAH10649,AAH69010,ABD46888,Q6NTG3,Q9UJA2 Hs.725958 C20orf155|CLS|CLS1|GCD10|dJ967N21.6 cardiolipin synthase protein-coding 731741 CRMP1 collapsin response mediator protein 1 This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 8973361,15383276,16169070,19492085,19409380,18782567,18524846,17118363,16611631,15492864,15489334,15345747,14996858,14702039,12650609,12482610,12477932,11562390,10048489,19019082,19362386,19903856,20087401,20379614 1400 NM_001014809,NM_001313,AC105915,AF096140,AF096152,CH471131,AK091696,AK094725,AK122754,AK127754,AK309379,BC000252,BC007613,BC007898,BC009987,BG701124,BT006806,CR601364,CR605907,CR608807,CR610419,CR616884,CR619154,CR622220,D78012,DQ206871,U17278,FB582071,FB582073,FB723030,FB723032 NP_001014809,NP_001304,AAY40959,AAK55500,EAW82403,EAW82404,EAW82405,EAW82406,EAW82407,BAG52919,BAG53708,BAG54567,AAH00252,AAH07613,AAH07898,AAP35452,BAA11190,ABB22046,AAA93201,A0EJG6,Q14194,Q96I11,ABM83454,ABM86666,CAR95648,CAR95649,CAT03387,CAT03388 Hs.135270 CRMP-1|DPYSL1|DRP-1|DRP1|ULIP-3 OTTHUMP00000217352|dihydropyrimidinase related protein-1|dihydropyrimidinase-like 1|dihydropyrimidinase-related protein 1|unc-33-like phosphoprotein 3 protein-coding 4107742 CRNDE colorectal neoplasia differentially expressed (non-protein coding) 11181995,8889548 643911 AC106738,AC108084,AF275804,BF692451,BM974647,BU180741,CH471092,DB455235,FJ466685,FJ466686,NR_034105,NR_034106 ACJ76642,EAW82818 Hs.237396 NCRNA00180 miscrna 733946 CRNKL1 crooked neck pre-mRNA splicing factor-like 1 (Drosophila) The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. This gene is similar in sequence to crn and encodes a protein which can localize to pre-mRNA splicing complexes in the nucleus. The encoded protein, which contains many tetratricopeptide repeats, is required for pre-mRNA splicing. [provided by RefSeq] 1580863 12084575,11991638,17296875,14759258,14702039,11780052,11342225,12477932,15189447 51340 NM_016652,AL035454,CH471133,AA255987,AB016840,AF111802,AF255443,AF318302,AF318303,AF318304,AF318305,AK022908,AK023246,AK023728,AK026342,AK292799,AL832435,BC144222 NP_057736,CAI42112,CAI42113,EAX10206,EAX10207,EAX10208,EAX10209,EAX10210,EAX10211,EAX10212,BAC53587,AAL39004,AAF65571,AAK01924,AAK01925,AAK01926,AAK01927,BAB14303,BAB14485,BAB14659,BAF85488,CAH10656,Q5JY65,Q69YP1,Q8IXG0,Q9BZJ0,AAI56790 Hs.171342 CLF|CRN|Clf1|HCRN|MSTP021|SYF3 Crn, crooked neck-like 1|crooked neck homolog|crooked neck protein|crooked neck-like 1|crooked neck-like protein 1 protein-coding 1323410 CRNN cornulin This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq] 20412117,11056050,2631556,11606197,14967811,2980212,19133922,18465210,17925851,16344560,15854041,12477932,19558548 49860 NM_016190,AF185276,AL135842,CH471121,AF077831,AK291301,AK298640,AK316568,BC030807,DA420219 NP_057274,AAF00514,CAI23349,EAW53381,AAD55747,BAF83990,BAG60815,BAG38157,AAH30807,Q9UBG3 Hs.242057 C1orf10|DRC1|PDRC1|SEP53 53 kDa putative calcium-binding protein|53 kDa squamous epithelial-induced stress protein|58 kDa heat shock protein|cornulin|squamous epithelial heat shock protein 53|tumor-related protein protein-coding 1313346 CROCC ciliary rootlet coiled-coil, rootletin 18086858,16203858,17971504,16767081,16710414,14654843,12800201,12477932,12427867,9455484,18029348 9696 NM_014675,AL049569,BX284668,CH471134,AB007914,AF527734,AK026910,AL834169,BC126911,BC126912,BK005505,DQ139275,CR599665 NP_055490,CAI20363,CAI20365,CAH70055,CAH70057,EAW94814,EAW94815,EAW94816,EAW94817,BAA32290,AAP85633,AAI26912,AAI26913,DAA05505,ABA43896,Q5TZA2 Hs.309403 KIAA0445|ROLT OTTHUMP00000002223|Tax1-binding protein 2|ciliary rootlet coiled-coil protein|rootletin|rootletin, ciliary rootlet protein protein-coding 2303468 CROCCL1 ciliary rootlet coiled-coil, rootletin-like 1 14702039,12477932 84809 NR_026752,AL137798,AA584096,AK054737,AK090414,AK123337,AK128484,BC006312,BC010508,BC015342,BC047736,BC051002 BAC03395,BAC85584,BAG54684 Hs.631865 CROCCL1|MGC12760 pseudo 1641962 CROCCL2 ciliary rootlet coiled-coil, rootletin-like 2 12477932,11572484 114819 NR_023386,AL137802,CH471167,AB067509,BC033082 EAW51787,BAB67815 Hs.597881 CROCCL2|KIAA0445|KIAA1922|dJ798A10.2 pseudo 1641966 CROCCP ciliary rootlet coiled-coil, rootletin pseudogene 392547 NG_009690,AL450472 CROCCP pseudo 732197 CROT carnitine O-octanoyltransferase This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described. 1580863,1300048,1599987 10486279,19054068,16344560,15489334,12690205,12477932,11790793,11001805,9110174,8889549,8619474,20379614,16756494,20877624 1599987 54677 NM_001143935,NM_021151,NR_026585,AC005045,CH236949,CH471091,AA062685,AF052187,AF073770,AF168793,AK127901,AK300114,AK313487,BC006015,BC012483,BC019226,BC039004,BC051874,DA518578,DA865171 NP_001137407,NP_066974,EAL24177,EAW76954,AAD41654,AAF03234,BAG61909,AAH39004,AAH51874,Q86V17,Q9UKG9 Hs.125039 COT OTTHUMP00000205463|peroxisomal carnitine O-octanoyltransferase|peroxisomal carnitine acyltransferase|peroxisomal carnitine octanoyltransferase protein-coding 736633 CRP C-reactive protein, pentraxin-related 1580259,1580260,1580863,2313344,1580273 20670634,16764962,16751408,16733231,16731635,16723442,16719793,16710414,16698114,16685271,16682383,16681424,16643876,16618976,16603696,16580524,16565153,16550411,16549465,16534007,16511556,16501036,16500582,16417933,16778366,16765355,17335789,17327459,17325687,17293598,17292342,17289011,17279354,17264952,17261875,17234298,17220790,17219082,17211240,17202380,17185152,17164456,17157301,17149558,17148079,17143564,17141244,17138933,17126343,17114654,17113059,17113035,17110595,17101857,17082472,17079491,17044846,17011566,17003778,16984505,16963054,16916777,16908949,16881737,16879213,16864904,16858645,16854501,16847147,16840032,16832152,16832147,16809564,16809555,16803998,15993896,15955391,15955385,15950309,15920074,15920065,15920036,15919817,15897982,15894827,15894122,15887860,15878871,15867284,15866055,15860734,15859024,15853546,15808312,15798966,15798948,15797975,15795363,15778807,15777561,15772777,15766555,15746456,15735209,15692104,15653107,15591095,15585218,15585215,15585211,15585208,15579759,15565375,15517131,15489334,15472120,15469865,15456743,15448085,15380464,15358216,15337754,15308783,15306744,15304023,15286457,15277326,15271790,15136507,15078802,15047644,15044210,14983228,14967837,14967730,14744975,12426218,12426217,12393563,12390313,12351483,12244213,12234944,12218140,12213988,12198121,12186793,12151853,12104096,12102655,12055255,12037301,12033985,11991668,11964845,11947917,11857055,11801683,11739301,10675363,12471137,12460042,10490997,10368284,8613143,8599761,8482924,8144569,7881902,6857266,6693419,6685157,6427230,3840479,3759147,2997165,2477447,1989977,1477104,762075,403526,265538,11027634,16405882,16380821,16352308,16344720,16306468,16266402,16257408,16221209,16213874,16189249,16170833,16153429,16151032,16148535,16131811,16123325,16109328,16087807,16087790,16061741,16051899,16026589,16005367,16005364,15997206,15996056,14634117,14592848,14508181,14506615,14500938,12975260,12934049,12892901,12869354,12850811,12842840,12835218,12835213,12821545,12819031,12783932,12716818,12701054,12663465,12654086,12637157,12618085,12616974,12594844,12563060,12552583,12529491,12477932,20346514,20056225,20339904,20623261,21033124,20437055,20494358,20538278,20546810,20680929,20734449,20819268,21062467,21086905,20522534,20691829,20727736,20855565,20856253,20877716,20949557,21034294,21037509,21044752,21044781,21054877,21059738,21080913,19117239,20214668,20306065,20371432,20453690,20538960,20605213,20614004,20651278,20805569,20034371,20489166,19914996,20465852,20047081,20539018,20556836,20581772,20186934,20939118,20170291,20502295,20538124,20573938,20443669,20596037,20852043,21037097,20184510,21094359,21196492,18436884,17335903,16409458,18621860,18609102,18609082,18607165,18605934,18591402,18577830,18573495,18573197,18573122,18566104,18562472,18556380,18551710,18541797,18523031,18513823,18513241,18508060,18505467,18500540,18499652,18493116,18491455,18489822,18486609,18464913,18458051,18450770,18443549,18439552,18439548,2477488,18322245,17785206,10408362,14718574,19624831,19593685,19584180,19567438,19545442,19533498,19527514,19520972,19495883,19494488,19492468,19469014,19461040,19436676,19433520,19428053,19426506,19410251,19394732,19390179,19387251,19377253,19377212,19375128,19369869,19360108,19359657,19358836,19351632,19337791,19328934,19322079,19297456,19297430,19282863,19282606,19281089,19276622,19272152,19268605,19267370,19267250,19262552,19255512,19252093,19251259,19248087,19244088,19240794,19238141,19228486,19225207,19202332,19201207,19193941,19188531,19179966,19172699,19168253,19155486,19147740,19139754,19139603,19136826,19136614,19130414,19128923,19125286,19122170,19118119,19101671,19100387,19096002,19095725,19084272,19081678,19078972,19077918,19077177,19076828,19075099,19191811,19074985,19074515,19072030,19067532,19060910,19055599,19040303,19034331,19029268,19026696,19023151,19019335,19011614,19010993,19008293,19004040,18997194,18996288,18983663,18974842,18971492,18957790,18953261,18948966,18937150,18924263,18853133,18853099,18852001,18845301,18842390,18842294,18841009,18840622,18836266,18829218,18823889,18818748,18810717,18810599,18805592,18805107,18801352,18793001,18791482,18790479,18786923,18785307,18784972,18764931,18757054,18755462,18753952,18753723,18714384,18714381,18710885,18708524,18704713,18704199,18702945,18700811,18695743,18688084,18685607,18676680,18675273,18667998,18654021,18654020,18650775,18636307,18632424,18622582,18436879,18433460,18428198,18425592,18422436,18421029,18418236,18415802,18414778,18413218,18412163,18404970,18403728,18401567,18394761,18393253,18389332,18388037,18388036,18386294,18385816,18385743,18385676,18385179,18383516,18379563,18378435,18373721,18372435,18369665,18365276,18362454,18359028,18356846,18347963,18347271,18344622,18333373,18332893,18328265,18327405,18316365,18312679,18305316,18297417,18296838,18289549,18288276,18285696,18285551,18280482,18279706,18266777,18263601,18262272,18250134,18245530,18241613,18235049,18226879,18226363,18219765,18219371,18218989,18217154,18216376,18214695,18206145,18200582,18182444,18178503,18172744,18171282,18167554,18165866,18096828,18083122,18078625,18075240,18071779,18063701,18060926,18056120,18055714,18055473,18054331,18036188,18023360,18005189,18000615,17991470,17981284,17957146,17956875,17952446,17943468,17942113,17934713,17925606,17920229,17917609,17909163,17903293,17900590,17891599,17888441,17885262,17880812,17878753,17878721,17873311,17852826,17852082,17851695,17851127,17845537,17827818,17806085,17785926,17765290,17763921,17722225,17714718,17714716,17706955,17702963,17702862,17700210,17697822,17693973,17676666,17673235,17653654,17652155,17652082,17650829,17641153,17635239,17623828,17623721,17615382,17613401,17600233,17598370,17597836,17596285,17588586,17581635,17575367,17573060,17561469,17531242,17530289,17519779,17513778,17511977,17499233,17498578,17477815,17477779,17460724,17459567,17456635,17452737,17449922,17449131,17433639,17400881,17395501,17383146,17382928,17380191,17372148,17369452,17355643,17355554,17351284,17350021,17347578,17343862,20075574,20227921,19025443,19913121,20485444,20552244,20572894,20618287,20628086,20679960,20686879,20730440,20733302,20797493,20423474,19642908,19923014,20131075,20587599,20626020,20669343,20676960,20683147,20690093,20850446,19170684,19201044,20638228,16582918,17584642,18476570,18616717,18759279,18835219,18952164,19073362,19111610,19138871,19170196,19203753,19268941,19282426,19323703,19343415,19362308,19403254,19415164,19415283,19423540,19436122,19436291,19436686,19437230,19439300,19439303,19473152,19480860,19482283,19499327,19501581,19501644,19521085,19522741,19523464,19525580,19534672,19538326,19560102,19565490,19571581,19576194,19577754,19578796,19594772,19595394,19602903,19614793,19615354,19617288,19619902,19620133,19625176,19626399,19631649,19643839,19643942,19644070,19645035,19667982,19670170,19680263,19692124,19692168,19695857,19706826,19715516,19719987,19719993,19728551,19729797,19736474,19736479,19751919,19755616,19760027,19762396,19762397,19766699,19783155,19796676,19800416,19801321,19806245,19808368,19816865,19816870,19818961,19821022,19833744,19834334,19850242,19850925,19851048,19853918,19855269,19857655,19857676,19864399,19874580,19879773,19900432,19903811,19906786,19929715,19931932,19942863,19944144,19946607,19947988,19948975,19954777,19956729,19962488,19965533,20004425,20005739,20006362,20017311,20024640,20031768,20042240,20056955,20060752,20068351,20074254,20075180,20075509,20078870,20078877,20083961,20136960,20142117,20145391,20145925,20173307,20179497,20184533,20184536,20190687,20200626,20200627,20215002,20227257,20233980,20237496,20333461,20339115,20346360,20348053,20403997,20406964,20423919,20438785,20453000,20466978,20494378,20511616 1580259,1580260,2313344,1580273 1401 NM_000567,AF442818,AF449713,AL445528,CH471121,M11725,M11880,AI609949,AK289443,AK313624,BC020766,BC070257,BC125135,BG533281,BG618967,CR598604,K00518,M35163,X56214,X56692,NG_013007 NP_000558,AAL48218,AAL40835,CAH73655,CAH73656,EAW52777,EAW52778,EAW52779,EAW52780,AAA52075,AAB59526,BAF82132,AAH20766,AAH70257,AAI25136,AAA52074,AAA52076,CAA39671,CAA40020,P02741,Q5VVP7,CAH73654 Hs.76452,Hs.709456 MGC149895|MGC88244|PTX1 C-reactive protein|c-reactive protein, petaxin related|pentraxin 1 2314798,2314801,2315765,2315816,2316338 GLUCO117_H,GLUCO120_H,GLUCO149_H,GLUCO177_H,GLUCO223_H protein-coding 1352950 CRPP1 C-reactive protein pseudogene 1 3034876 171422 NG_001016,AF442818,AL445528,M16109 pseudo 1347855 CRS craniosynostosis 1403 1343255 CRSP2P cofactor required for Sp1 transcriptional activation, subunit 2, pseudogene 12815422 10028,359791 AC004617,AC004810,NG_002807 CRSP2P|CXorf4P|MED14P pseudo 1351263 CRSP4 cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa 10689 1347619 CRSP5 cofactor required for Sp1 transcriptional activation, subunit 5, 85kDa 10688 737274 CRTAC1 cartilage acidic protein 1 20694148,20595579,17602227,17074475,15489334,14702039,12477932,11139377,16385451,20379614 55118 AL358938,CH471066,AJ276171,AJ279016,AJ421515,AK001182,AK057190,AK292084,BC034245,AL139239,NM_018058 CAI12582,CAI12583,CAI12584,CAI12585,CAI14275,CAI14277,EAW49890,EAW49891,EAW49892,CAB98267,CAB98268,CAB98269,CAC08451,CAD13394,BAA91540,BAF84773,AAH34245,Q5T4F6,Q9NQ79,NP_060528 Hs.500736 ASPIC1|CEP-68|FLJ10320 68 kDa chondrocyte-expressed protein|ASPIC|OTTHUMP00000020234|OTTHUMP00000020235|acidic secreted protein in cartilage|cartilage acidic protein 1|chondrocyte expressed protein 68 kDa CEP-68|w307 protein protein-coding 1606263 CRTAM cytotoxic and regulatory T cell molecule The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM] 15811952,18329370,16300832,15781451,12477932,10811014,19695707,17207965 56253 NM_019604,AP004318,CH471065,AB209830,AF001622,AK293470,AK313578,BC070266,BX118379,CA309993,CK004240 NP_062550,EAW67532,BAD93067,BAG56963,BAG36349,AAH70266,O95727,AAC80267,ADQ32073 Hs.159523 class I MHC restricted T cell associated molecule|class-I MHC-restricted T cell associated molecule|class-I MHC-restricted T-cell-associated molecule|cytotoxic and regulatory T-cell molecule protein-coding 1320245 CRTAP cartilage associated protein The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq] 1580863 12477932,19895918,18996919,18566967,17055431,16344560,15489334,14702039,10702664,10429950,9217321,19550437,19615732,19727905,19846465,19862557,20425614 10491 NG_008122,AC112211,AC123900,CH471055,AJ006470,AK001634,AK027235,AK075401,AK091772,AK092990,AK097650,AK126433,AK298250,AK314719,AL110145,BC008745,BC073904,BC094866,BX648233,NM_006371,CR594104,CR597717,CR613224,CR618116,CR622212,CR625365,DA335701 NP_006362,EAW64448,EAW64449,EAW64450,CAA07054,BAG50954,BAG52129,BAC03743,BAG52633,BAG53502,BAG54328,BAG60515,BAG37263,AAH08745,O75718,Q8NB01,ABM84147,ABM87549 Hs.629558 CASP|LEPREL3 OTTHUMP00000208757|cartilage-associated protein|leprecan-like 3 protein-coding 1320323 CRTC1 CREB regulated transcription coactivator 1 18784253,18717645,18235224,18206539,18181164,17565599,17437281,17334997,16980408,16818685,16817901,16809310,16652146,16344560,15729701,15589160,15489334,15324660,15057824,14720503,14702039,12539049,12477932,9734811,8889548,15454081,18029348,20386866,20936779,14536081,14506290,19531414,19269006,19164581,19913121,20628086,20588178,20427287,20457610,19438452,19521953,20010869,21102462 23373 NM_001098482,NM_015321,AC003107,AC004400,AC004476,AC006123,CH471106,AB014516,AK024089,AU118537,AY040323,AY360171,BC017075,BC023614,BC028050,BM680095,CR602840,CR611462,DB355148 NP_001091952,NP_056136,AAC97072,EAW84730,EAW84731,EAW84732,EAW84733,BAA31591,BAB14822,AAK93832,AAQ98856,AAH17075,AAH23614,AAH28050,Q6UUV9,ABM84236,ABM85154 Hs.371096 FLJ14027|KIAA0616|MECT1|TORC1|WAMTP1 CREB-regulated transcription coactivator 1|TORC-1|mucoepidermoid carcinoma translocated 1|mucoepidermoid carcinoma translocated protein 1|transducer of CREB protein 1|transducer of regulated cAMP response element-binding protein (CREB) 1|transducer of regulated cAMP response element-binding protein 1 protein-coding 1603540 CRTC2 CREB regulated transcription coactivator 2 17805301,19509226,20101207,18029348,19369332,19372545,19564345,20300828,20504934,20541704,20693566,20864035,16306228,19164291,18626018,17950019,17548807,17476304,17043309,16980408,16809310,15454081,15324660,14702039,14536081,14506290,12477932,9373149,8125298,17353931,20675384,19279000,20501647,21145500 200186 NM_181715,AL358472,AF289574,AK096382,AK223559,AY360172,AY726597,BC028886,BC033304,BC053562,CR624271,BI550818,BM987537 NP_859066,CAI14017,CAI14018,AAL55758,BAG53277,BAD97279,AAQ98857,AAH28886,AAH53562,Q53ET0,Q5T4K5,Q8N332,Q8WZ18 Hs.406392 RP11-422P24.6|TORC-2|TORC2 CREB-regulated transcription coactivator 2|OTTHUMP00000035255|TORC-2|transducer of CREB protein 2|transducer of regulated cAMP response element-binding protein (CREB) 2|transducer of regulated cAMP response element-binding protein 2 protein-coding 1604314 CRTC3 CREB regulated transcription coactivator 3 21130836,18050304,17644518,16980408,15466468,15324660,14536081,14506290,12477932,9373149,8125298,19749740,20379614,20936779 64784 NM_022769,NM_001042574,AC021422,AC103739,AK025521,AK074170,AK090443,AK225300,AL360259,AY360173,BC019060,BC074730,BC074731,BQ945777 NP_073606,NP_001036039,BAB15160,BAB84996,BAC03424,AAQ98858,AAH74730,AAH74731,Q6UUV7,Q8TEF4 Hs.567572 FLJ21868|TORC3 CREB-regulated transcription coactivator 3|TORC-3|transducer of CREB protein 3|transducer of regulated CREB protein 3|transducer of regulated cAMP response element-binding protein (CREB) 3|transducer of regulated cAMP response element-binding protein 3 protein-coding 1345664 CRTL2 cartilage linking protein 2 1405 733182 CRX cone-rod homeobox The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq] 1580863,734827,1600973 9390563,18653602,17347810,17320181,17286855,16189514,15689355,15531334,15489334,15143176,15001570,12477932,12408971,12359607,12208271,11971869,11910559,11748859,11580893,11468275,10887186,10866677,10708567,10192380,9931337,9792858,9537410,9427255,8889548,8162077,9390516,20591486,12215455,15028672,19686387,19753312,19823680,19936203,20801516 734827,1600973 1406 NM_000554,NG_008605,AC008745,AF024711,AF335246,CH471126,AF335247,AF335249,AF335593,AF335594,AF335595,AF442496,AL711350,BC009045,BC016664,BC053672,BT007364,BU736672,DQ426868,EF432655 NP_000545,AAB88418,EAW57515,AAH16664,AAH53672,AAP36028,ABD90533,O43186,Q0QD45,ABM84490,ABM85165,ABO31091 Hs.617342,Hs.633434,Hs.639114 CORD2|CRD|LCA7|OTX3 cone-rod homeobox protein|orthodenticle homeobox 3 protein-coding 1353919 CRY1 cryptochrome 1 (photolyase-like) 1580863 20560679,19181792,18430226,18228528,18195715,17376600,16628007,16189514,15722957,15489334,14507900,12846824,12782655,12477932,11875063,11533252,10531061,10428031,8921389,8600518,17073458,9801304,8909283,10217146,20222832,19500131,19693801,19934327,20072116,20174623,20379614,17463251,20877624,20978934 1407 NM_004075,AC007541,AC078929,CH471054,AK098615,AK125915,AK290552,BC017466,BC030519,CR592420,D83702,D84657,EF015898 NP_004066,EAW97795,EAW97796,EAW97797,BAC05354,BAF83241,AAH30519,BAA12068,BAA12710,Q16526,Q8N7D9,ABM64209 Hs.151573 PHLL1 cryptochrome-1|photolyase-like cryptochrome 1 protein-coding 732507 CRY2 cryptochrome 2 (photolyase-like) 1580863,734990 19913121,20532202,20554694,20571754,20628086,9383998,8909283,17073458,17463251,15798197,19318546,18990770,18444243,18430226,18228528,17984998,17440215,16628007,16528748,15751956,15489334,14750904,14702039,14701732,14507900,12782655,12627958,12477932,10531061,10428031,10217146,9801304,9734811,19470168,19693801,19839995,19934327,20072116,20081858,20174623,20195522,20233903,20334671,20379614,20419449,20856823,20978934 734990 1408 NM_001127457,AC068385,CH471064,EF015899,AB014558,AK001194,AK291260,AK294904,AK295627,AK302865,NM_021117,BC035161,BC041814,BG260501,CR621757,DC306642,DC330290,EU219622 NP_066940,NP_001120929,EAW68029,EAW68030,ABM64210,BAA31633,BAF83949,BAG57993,BAG58504,BAG64048,AAH35161,AAH41814,ACA14134,Q49AN0 Hs.532491 FLJ10332|HCRY2|KIAA0658|PHLL2 cryptochrome-2|growth-inhibiting protein 37 protein-coding 735272 CRYAA crystallin, alpha A Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq] 1580863,2303613,1600984,1600993,1600994 19464326,20606865,17207965,18521724,18477484,18344542,18343237,18302245,18199971,18095658,18056999,18004741,17973972,17937925,17909943,17900621,17724170,17662998,17296897,17258947,17149363,16760894,16751613,16735993,16584192,16531622,16453125,16012168,15817465,15701626,15489334,15388868,15382236,15284238,15004872,14532291,12501218,12477932,12369832,12095619,12060738,11756414,11700327,11672428,11377425,18407550,8943244,14752512,16303126,9467006,14512969,18587492,19595763,19390652,19071118,19020808,18949065,18779867,18754677,18700785,18692065,18639655,11123904,11024455,11006246,10930324,10830953,10217480,9655350,9618718,9543632,9346914,8999933,8910261,8759518,8587135,8175657,7835394,3758227,3610158,2918909,1730617,1525182,817940,15322286,17724207,19401464,19463898,19503744,19558454,19651604,19862354,20079887,20434541,20465443 2303613,1600993,1600994 1409 AAB33370 NG_009823,AF026952,AP001631,AP001748,CH471079,M35628,M35629,BC069528,BC113598,CR407691,L25781,U05569,U66584,X14789,NM_000394 ADQ32914,NP_000385,AAB99912,BAA95535,EAX09497,EAX09498,AAA52106,AAA52105,AAH69528,AAI13599,CAG28619,AAC37570,AAA97523,AAC50900,CAA32891,AAB33370,P02489,Q13684,Q53X53,Q71V83,ADR82821 Hs.184085 CRYA1|HSPB4 alpha-crystallin A chain|crystallin, alpha-1|heat shock protein beta-4|human alphaA-crystallin (CRYA1) protein-coding 737518 CRYAB crystallin, alpha B Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. [provided by RefSeq] 2303639,1580863 19464326,10508479,10217480,9110174,8999933,8639509,8619474,8431633,8175657,8142454,7498159,2591958,2539261,2387586,2294148,1560006,1525182,1407707,838078,10625651,20841355,20804537,20535031,16893188,16877416,16817325,16764341,16760894,16751613,16581320,16505043,16483541,16480679,16395408,16381901,16368544,16274233,16225851,16142923,16053447,15952936,15817465,15653686,15639800,15511225,15489336,15489334,15388868,15382236,15339919,15308659,15284238,15236975,16303126,14752512,9731540,15609325,19461931,19451620,19282282,19272359,19238749,19140694,19116904,19041879,18992912,18977241,18974385,18941542,18810322,18712293,18692065,18685083,18669646,18639655,18604737,18543331,18401461,18343407,18343237,18334940,18230612,18164413,18162431,18095658,18063749,18061943,18005258,18004741,17968656,17940610,17916631,17909943,17723105,17693254,17662998,17655279,17601350,17590381,17568699,17487982,17387692,17260942,17258947,17105203,17081987,17075130,17056255,17046756,17022999,17010329,15188402,15168732,15117944,15004872,14743435,14681890,14676215,14610128,14532291,14523008,12965253,12940843,12837281,12646227,12601044,12600716,12501218,12477932,12468532,12140279,12095619,12060738,11926998,11771659,11700327,11577372,11377425,11369851,11341940,11256614,11158243,11076863,11024455,10995559,10930324,10751411,20587334,19777343,20668689,20067552,20802487,17551579,19205872,19401464,19498098,19558454,19597569,19646995,19651604,19680556,19799611,20104255,20141356,20378664,20381070 2303639 1410 FJ876064,M24906,S45630,BT006770,NM_001885,NG_009824,AP000907,CH471065,EF444955,M28638,AF007162,AK295498,AK314029,BC007008 AAP35416,ACP18852,AAA60267,AAB23453,P02511,CAL37427,CAL37905,ABM83443,ABM86655,NP_001876,EAW67162,EAW67163,EAW67164,EAW67165,EAW67166,EAW67167,ACA05949,AAA52104,AAC19161,BAG58418,BAG36739,AAH07008 Hs.53454 CRYA2|CTPP2|HSPB5 alpha B crystallin|alpha crystallin B chain|alpha(B)-crystallin|alpha-crystallin B chain|heat shock protein beta-5|heat-shock 20 kD like-protein|renal carcinoma antigen NY-REN-27|rosenthal fiber component protein-coding 736650 CRYBA1 crystallin, beta A1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq] 1580863,1601004,1601011 17616172,15576560,15489334,15111599,15016766,14598164,12477932,12060738,11424921,10585769,10525151,9788845,8961355,8889548,8623885,3770741,3745196,2055112,17207965,18587492,8999933,19190732,18949065,18823128,18567786,18401461,18162101,17653060,19401464,19548648,20142846,20300566 1601004,1601011 1411 NM_005208,NG_008037,AC005412,CH471159,M14301,M14302,M14303,M14306,BC069537,BC113693,BU735083,U59058 ADQ32939,ADR82864,NP_005199,EAW51185,AAA52107,AAH69537,AAI13694,AAC50971,P05813 Hs.46275 CRYB1 beta-crystallin A3|crystallin, beta A3|eye lens structural protein protein-coding 1343426 CRYBA2 crystallin, beta A2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq] 634551,1580863 18391951,16189514,15489334,12907171,12477932,7490092,6835373,20546612 634551 1412 NM_057093,NM_057094,NM_005209,AC097468,CH471063,X86395,X86396,AF166331,BC006285,BF726935,BT007447 NP_476434,NP_476435,NP_005200,AAX88918,EAW70665,EAW70666,EAW70667,CAA60147,CAA60148,AAD45388,AAH06285,AAP36115,P53672,Q4ZFX0 Hs.415790 OTTHUMP00000206334|beta-A2 crystallin|beta-crystallin A2|eye lens structural protein protein-coding 733543 CRYBA4 crystallin, beta A4 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq] 1580863,2303653 12060738,10591208,8889548,8420967,7504514,1424806,960806,16960806,8999933,15489334,15461802,12477932,12360425,20577656,20057906 2303653 1413 NM_001886,NG_009825,CH471095,S67583,Z95115,BC069404,BC096171,BC096172,BC096173,BC096174,BF726612,BM667295,CR456424,U59057 NP_001877,EAW59731,AAD13994,CAI17980,AAH69404,AAH96171,AAH96172,AAH96173,AAH96174,CAG30310,AAC50970,P53673,CAK54416,CAK54715 Hs.57690 MCOPCT4 beta-A4 crystallin|beta-crystallin A4|crystallin, beta polypeptide A4|eye lens structural protein protein-coding 731502 CRYBB1 crystallin, beta B1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq] 1580863,728217 8626774,19190732,19071118,18432316,18162101,17531125,17460281,17448466,17327390,16331646,16110300,15667225,15489334,15461802,14978307,14573871,12941953,12506076,12477932,12360425,12060738,10591208,9702176,20565250,8575764,20616077,19461930,19463898,19548648 728217 1414 NM_001887,NG_009826,CH471095,X86398,Z95115,BC036790,CR456425,U35340 NP_001878,EAW59730,CAA60150,CAB08268,AAH36790,CAG30311,AAC50383,P53674,CAK54417,CAK54716 Hs.37135 CATCN3 beta-B1 crystallin|beta-crystallin B1|eye lens structural protein protein-coding 734352 CRYBB2 crystallin, beta B2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq] 1580863,734832,1601011 17653036,17234267,16519509,16319073,16179907,15489334,15461802,15452067,12535638,12477932,12457849,12060738,11700327,11424921,10930324,10737800,10634616,10591208,8999933,8889548,20565250,9158139,19321936,19190732,18449377,18162101,17937660,8812489,8443605,8224918,8175657,3436525,2055112,1521468,19649175 734832,1601011 1415 NM_000496,NG_009827,CH471095,U72400,U72404,Z99916,BC069535,BF847403,BM667912,CR456426,L10035 NP_000487,EAW59688,AAB39700,CAB17043,AAH69535,CAG30312,AAA16864,P43320,CAK54418,CAK54717 Hs.373074 CCA2|CRYB2|CRYB2A|D22S665 beta-B2 crystallin|beta-crystallin B2|beta-crystallin Bp|eye lens structural protein protein-coding 1345141 CRYBB2P1 crystallin, beta B2 pseudogene 1 12477932,8812489,3436525,2055112 1416 AL008721,M18441,BC037884,BC047380,NR_033733,NR_033734 Hs.571835 CRYB2B|MGC51252 pseudo 733594 CRYBB3 crystallin, beta B3 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. [provided by RefSeq] 1580863 17474147,8999933,18162101,15914629,15489334,15461802,12477932,12060738,10591208,9183670,8812489,2499686 1417 NM_004076,NG_009828,CH471095,X15144,X15145,X15146,Z99916,BC069479,BC102021,BC102022,BC107482,CR456427,U71216 NP_004067,EAW59686,EAW59687,CAA33242,CAB17042,AAH69479,AAI02022,AAI02023,AAI07483,CAG30313,AAC50972,P26998,CAK54419,CAK54718 Hs.533022 CATCN2|CRYB3|MGC125772|MGC125773|MGC125774 OTTHUMP00000198624|beta-B3 crystallin|beta-crystallin B3|eye lens structural protein protein-coding 2301266 CRYBG3 beta-gamma crystallin domain containing 3 14702039,12477932,20379614 131544 XM_003118522,XM_003119905,XM_003120421,AC110491,AF451988,AK091199,AK098569,AK130907,AL831927,BC036247,BC050394,BX647079,BX648353,CR749313,AK296966 XP_003118570,XP_003119953,XP_003120469,AAP97687,BAC03608,BAC05338,CAD38587,AAH36247,AAH50394,CAH18168,Q68DQ2,AAI48427,BAG59510 Hs.714457,Hs.570562 DKFZp667G2110|DKFZp686L13211|FLJ60082 beta-gamma crystallin domain containing 3|beta/gamma crystallin domain-containing protein 3 protein-coding 1351411 CRYGA crystallin, gamma A Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq] 1580863 9426193,8889548,3011643,2991114,2258929,3670288,12507494,19384013,12477932,12011157,10627816,19463898 1418 NM_014617,AC016697,CH471063,M17315,M17316,BC114456,BM698524,EF426311 NP_055432,AAX93220,EAW70435,AAA52108,AAI14457,ABO14696,P11844,Q24JT5 Hs.122566 CRY-g-A|CRYG1|CRYG5 crystallin, gamma 1|gamma crystallin 5|gamma-A-crystallin|gamma-crystallin 5|gamma-crystallin A|gammaA-crystallin protein-coding 1347974 CRYGB crystallin, gamma B Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq] 1580863 12507494,19384013,16368877,15815621,15489334,14517968,12876325,12676897,12477932,12060738,12011157,10627816,10521291,9426193,8889548,4065573,3670288,3011643,2777080,2258929,1923840,20800603,20621668 1419 NM_005210,AC016697,CH471063,M11970,M11971,M19364,BC074944,BC074945,BC117384,BC117388,BM666147,BY794984 NP_005201,AAX93219,EAW70434,AAA52113,AAA52109,AAH74944,AAH74945,AAI17385,AAI17389,P07316,ADR82860 Hs.248102 CRYG2 crystallin, gamma 1-2|gamma-B-crystallin|gamma-crystallin 1-2|gamma-crystallin B protein-coding 736578 CRYGC crystallin, gamma C Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq] 1580863,1601015 20621668,16303126,12507494,12011157,18618005,19390652,19204787,17679936,17327821,15489334,15322286,12876325,12477932,12457849,12060738,11904153,11700327,10914683,10627816,10521291,9426193,8999933,8943244,8889548,4065573,4033658,3670288,3025877,3011643,2777080,2258929,1923840,18839057 1601015 1420 NM_020989,NG_008038,AC093698,CH471063,K03003,K03004,M11972,M11973,M19364,BC074954,BC074955,BU737104,U66582 NP_066269,AAY24042,EAW70433,AAA52111,AAA52114,AAA52110,AAH74954,AAH74955,AAC50899,P07315 Hs.72910 CCL|CRYG3 crystallin, gamma-3|gamma-C-crystallin|gamma-crystallin 2-1|gamma-crystallin 3|gamma-crystallin C protein-coding 735833 CRYGD crystallin, gamma D Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq] 1580863,1601016 20621668,8943244,12507494,9927684,12011157,12676897,8983941,19390652,19382745,19358562,19275895,18795792,18334953,18253099,18079686,17923670,17905830,17724170,17564961,17217786,16981715,16891314,16288201,16046626,16030500,15815621,15722442,15709761,15489334,15451671,15064679,15041957,12876325,12729747,12477932,12107413,12060738,11371638,10915766,10688888,10627816,10521291,9426193,8999933,8733140,4033658,3670288,3025877,3011643,2258929,20508808,20553008,20616077,19216553,19633732,19668596,19758984,19937657 1601016 1421 AC093698,CH471063,K03005,K03006,BC117338,BC117340,CD674533,EL946552,U66583,NM_006891,NG_008039 ADR82848,AAY24041,EAW70432,AAA52112,AAI17339,AAI17341,AAB38686,P07320,NP_008822 Hs.546247 CACA|CCA3|CCP|CRYG4|cry-g-D gamma crystallin 4|gamma-D-crystallin|gamma-crystallin 4|gamma-crystallin D protein-coding 1346335 CRYGEP1 crystallin, gamma E pseudogene 1 9847074,8004095,4033658,3670288 200575 NG_002762,AC093698,K03007,K03008,S72943 CCL|CRYG5|CRYGEP1|D2S1472|G2 pseudo 1344047 CRYGFP crystallin, gamma F pseudogene 18085818,9847074,4033658 1423 NG_001107,AC013409,K03009,K03010 CRYG6|CRYGFP1|p1 pseudo 1351190 CRYGGP1 crystallin, gamma G pseudogene 1 2258929 1424 NG_001108,AC064868,X52628 CRYGGP1 pseudo 1318382 CRYGN crystallin, gamma N The beta and gamma crystallins are evolutionarily related families of proteins that are localized to the refractive structure of the eye lens. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. [provided by RefSeq] 15853812,12690205,12477932 155051 NM_144727,AACC02000108,CH471173,AF445455,BC043605,BC100878,BC100879,BC100880,BC100881 NP_653328,EAL24514,EAW53992,EAW53993,AAL40968,AAI00879,AAI00880,AAI00881,AAI00882,Q8WXF5 Hs.647104 MGC119042|MGC119043|MGC119044|MGC119045 gamma-N-crystallin|gamma-crystallin N|gammaN-crystallin protein-coding 1320030 CRYGS crystallin, gamma S Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq] 1580863 19262743,17905830,16141006,15489334,14763903,12529503,12477932,12475213,12093281,12060738,11706012,10837510,10627816,9426193,8999933,7849599,7733876,3670288,1445197,17207965,2258929,20621668,19358562,19558189 1427 NM_017541,NG_009829,AC068631,AF242197,AF242198,CH471052,AF161703,AK314172,AL133079,BC069478,BC070241,L36869 NP_060011,AAF72490,EAW78194,EAW78195,EAW78196,AAD45901,BAG36855,CAB61399,AAH69478,AAH70241,AAA92870,P22914,Q9UFA7,ADQ32938 Hs.376209 CRYG8 OTTHUMP00000210173|beta-crystallin S|crystallin, gamma 8|gamma-S-crystallin|gamma-crystallin S protein-coding 735568 CRYL1 crystallin, lambda 1 The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq] 1580863 15809331,15057823,14702039,12527201,12477932,3170592 51084 NM_015974,AL161715,AL590096,AL606822,CH471075,AF077049,AF087898,AF160216,AK024041,BC071810,BC119660,BC119661,BQ006686,CR591361,CR592394,CR617362,CR623496,BC008562,AK301605 NP_057058,CAH71073,CAH71074,CAI14388,CAI14389,EAX08259,EAX08260,EAX08261,EAX08262,EAX08263,EAX08264,EAX08265,AAD27782,AAP97197,AAF67017,AAH08562,AAH71810,AAI19661,AAI19662,Q9Y2S2,BAG51254,BAG63091 Hs.370703 GDH|MGC149525|MGC149526|lambda-CRY L-gulonate 3-dehydrogenase|OTTHUMP00000018098|crystallin, lamda 1|gul3DH|lambda-crystallin homolog protein-coding 734218 CRYM crystallin, mu Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863,734836 17242435,9328354,16740909,11897713,12471561,12590647,19165527,19110265,17451686,15489334,12477932,10493829,9285773,18029348,8895318,1478656,1384048,20471030,19353593,20018174 734836 1428 NM_001014444,NM_001888,NG_011610,AF001550,AF039397,CH471228,AK290852,AK310424,BC008398,BC018061,BG033512,BI860684,BX648477,L02950,U85772 NP_001014444,NP_001879,AAB67600,AAB94938,EAW66862,EAW66863,BAF83541,AAH18061,CAI46030,AAC16914,AAB81564,Q14894,Q5HYB7,ABM83303,ABM86517 Hs.924 DFNA40|THBP NADP-regulated thyroid-hormone binding protein|OTTHUMP00000115878|mu-crystallin homolog protein-coding 1323202 CRYZ crystallin, zeta (quinone reductase) Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq] 1580863 20103721,7835889,16344560,15489334,15146197,14702039,12714703,12477932,11672428,11295131,9698072,9373149,8466529,8125298,8088825,18029348,17497241 1429 L13278,NM_001130042,NM_001130043,NM_001134759,AC091611,AC135803,CH471059,L31521,AB209714,AK123469,AK128794,AK223150,AK223201,AK314813,BC039578,BC070058,BX647883,BX649061,CN368109,CR594192,CR595439,CR614503,CR620400,DA256305,NM_001889 NP_001880,NP_001123514,NP_001123515,NP_001128231,EAX06409,EAX06410,EAX06411,EAX06412,AAK40311,BAD92951,BAD96870,BAD96921,AAH39578,AAH70058,CAI46072,AAA36536,Q08257,Q5HYE7 Hs.83114 DKFZp779E0834|FLJ41475 NADPH:quinone reductase|OTTHUMP00000011211|OTTHUMP00000011212|quinone oxidoreductase|zeta-crystallin protein-coding 1320993 CRYZL1 crystallin, zeta (quinone reductase)-like 1 This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq] 1580863 10191096,16780588,17497241,16344560,15489334,14702039,12477932,10986039,10830953 9946 NM_145858,AP000304,AP000305,AP000306,AP000307,AP000308,AF029689,AF086550,AF098798,AK001293,AK057604,AK058071,AK315707,BC013155,BC022827,BC032816,BC033023,BC039589,BX647276,BX648547,CA426424,DB037192,BI599245 NP_665857,AAD22381,AAD20219,BAA91605,BAG51939,BAG38068,AAH13155,AAH22827,AAH33023,O95825,Q8TBV9,ABM81935,ABM85116 Hs.352671 4P11|QOH-1 OTTHUMP00000196007|protein 4P11|quinone oxidoreductase homolog 1|quinone oxidoreductase-like protein 1|quinone reductase-like 1|zeta-crystallin homolog protein-coding 1345953 CRYZP1 crystallin, zeta (quinone reductase) pseudogene 1 12853948,8088825,7835889 1430 NG_001109,AC007683,AC108167,L31527 pseudo 1606843 CS citrate synthase The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq] 2306877,2306828 14702039,12549038,12531911,12477932,12198136,11377425,9792662,7285903,318158,20877624,9809442,9543345,17298551,16751257,16303743,15714131,15711981,15489334,15242332,14760703,14743216,19479947,19615732 2306877,2306828 1431 NM_004077,AC073896,CH471054,CQ782923,AF047042,AF053631,AF147410,AK074956,AK095856,AK098177,AK296249,AK307625,AL713477,BC000105,BC010106,BC072016,BI258893,BI553413,BT007414,BX640838,CB990178,CR596424,CR598281,CR614767,CR616817,CR620666,CR622159,DQ403132,AK293263 NP_004068,EAW96923,EAW96924,CAF86150,AAC25560,AAQ13428,BAC11314,BAG53146,BAG58964,AAH00105,AAH10106,AAH72016,AAP36082,CAE45911,ABD77265,O75390,Q0QEL2,BAH11477 Hs.430606 citrate synthase, mitochondrial protein-coding 732204 CSAD cysteine sulfinic acid decarboxylase 1300048,1580863 16344560,15489334,14702039,12477932,11997111,11752456 51380 NM_015989,AC073573,CH471054,AB044561,AF116545,AF116546,AF116547,AF116548,AK122681,AK126934,AK128796,AK289659,AK296885,AK315265,AV655618,BC018042,BC047466,BC052249,BC098278,BC098342,BC099717,BC105918,DA687716 NP_057073,EAW96666,EAW96667,EAW96668,EAW96669,EAW96670,EAW96671,EAW96672,BAB60953,AAD32543,AAD32544,AAD32545,AAD32546,BAG53664,BAF82348,BAG59446,BAG37682,AAH52249,AAH98278,AAH98342,AAH99717,AAI05919,Q86V02,Q96JQ3,Q9Y600,Q9Y602 Hs.279815 CSD|FLJ44987|FLJ45500|MGC119354|MGC119355|MGC119357|PCAP OTTHUMP00000045733|OTTHUMP00000045734|OTTHUMP00000209623|P-selectin cytoplasmic tail-associated protein|cysteine sulfinic acid decarboxylase|cysteine-sulfinate decarboxylase|sulfinoalanine decarboxylase protein-coding 1353338 CSAG1 chondrosarcoma associated gene 1 This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq] 17207965,12477932,12039054 158511 NM_153478,NM_001102576,AF002997,CH471169,AF195880,AF268418,AF268419,BC059947,BM810082,NG_013228 ADQ32538,NP_705611,NP_001096046,EAW99433,EAW99434,EAW99435,EAW99436,AAH59947,Q6PB30 Hs.423718 CSAGE|CT24.1 cancer/testis antigen 24.1|cancer/testis antigen CSAGE|cancer/testis antigen family 24, member 1|putative chondrosarcoma-associated gene 1 protein protein-coding 1349892 CSAG2 CSAG family, member 2 1580863 11098082,12367802,12445756,12738743,12925976,15580499,15733385,17216190,18395366,20483736,10095106,17342728,16888034,16685391,15120907,12477932,12039054,11205240,11181995 728461 NM_004909,NM_001080848,AF002997,AF080246,AF136715,AF268420,AF268421,BC007228,BC119734,BC119735,CR595652 NP_004900,NP_001074317,AAC29487,AAD37859,AAH07228,AAI19735,AAI19736,Q9Y5P2 Hs.721609,Hs.727887 CSAG3|CSAG3B|CT24.2|MGC149851|MGC149852|TRAG-3|TRAG3 CSAG family, member 3B|cancer/testis antigen 24.2|cancer/testis antigen family 24, member 2|chondrosarcoma-associated gene 2/3 protein|taxol resistance associated gene 3|taxol-resistant-associated gene 3 protein APPROVED protein-coding 1603470 CSAG3 CSAG family, member 3 12039054,10095106,11098082,11205240,12367802,12445756,12738743,12925976,15120907,15580499,15733385,16685391,16888034,17216190,18395366,20483736,12477932,11181995 389903 NM_001129826,NM_001129828,AF002997,CH471169,AF080246,AF136715,AF268420,AF268421,BC007228,BC119734,BC119735,CR595652 NP_001123298,NP_001123300,EAW99427,EAW99428,AAC29487,AAD37859,AAH07228,AAI19735,AAI19736,Q9Y5P2 Hs.721609,Hs.727887 CSAG2|CSAG3A|CT24.2|MGC17065|TRAG-3 CSAG family, member 3A|CT24.2|TRAG-3|cancer/testis antigen 24.2|chondrosarcoma-associated gene 2/3 protein|taxol-resistant-associated gene 3 protein protein-coding 733766 CSDA cold shock domain protein A 2311250,1580863 16198352,17643375,19710015,19734347,19749785,20133480,12477932,12239625,10343102,9442396,8871564,11799066,8710501,2977358,7628487,19328795,19240061,17081983,16508013,16344560,16094384,15592429,15489334,15302935,14728692 2311250 8531 NM_001145426,NM_003651,AC021049,CH471094,L29064,AA621593,AB209896,AK314846,AU117252,BC008801,BC009744,BC015564,BC015913,BC021926,BC150580,CR624602,M24069,X72712,X95325 NP_001138898,NP_003642,EAW96201,EAW96202,EAW96203,EAW96204,EAW96205,BAD93133,BAG37363,AAH08801,AAH09744,AAH15564,AAH15913,AAH21926,AAA35749,AAA79243,CAA51261,CAA64631,P16989,Q59EB5,Q96GD7,ABM83612,ABM86856 Hs.221889 CSDA1|DBPA|ZONAB DNA-binding protein A|ZO-1-associated nucleic acid-binding protein|cold shock domain-containing protein A|cold-shock domain containing A1|cold-shock domain protein A|single-strand DNA-binding protein NF-GMB protein-coding 1346098 CSDAP1 cold shock domain protein A pseudogene 1 10343102 440359 NR_027011,AC106730,Y17508,AI183563,BI826429,DB451883,DB459603,DB520886,DB525052 Hs.650902 pseudo 1603657 CSDC2 cold shock domain containing C2, RNA binding 12801884,18029348,16344560,15489334,15461802,12767259,12477932,10923677,10591208,10446180,9110174,8619474,8573167,17474147 27254 AL023553,CH471095,AB027011,AK313407,AL834417,BC067113,CR456457,CR603349,CR606962,CR615903,CR625281,DB168570,U79280,NM_014460 Q9Y534,CAK54438,CAK54737,ACE87346,ACE86662,NP_055275,CAB46024,EAW60442,BAA84704,BAG36202,CAD39079,AAH67113,CAG30343,AAB50218,Q99779 Hs.310893 PIPPIN|dJ347H13.2 RNA-binding protein pippin|cold shock domain-containing protein C2 protein-coding 1607084 CSDE1 cold shock domain containing E1, RNA-binding 17474147,20379614,2204029,17947529,17159903,17081983,16710414,16381901,16356927,16344560,15928332,15489336,15489334,15314026,14702039,12667457,12477932,11076863,11051545,10049359,10048485,9110174,8619474,8439573,2052355,16169070,20936779,21048031,19913121,20628086 7812 BC021692,BC032446,BX479150,BX648561,BX648780,CR593292,CR594529,CR604787,CR624546,CR749378,CR749431,DB076150,NM_007158,NM_001007553,NM_001130523,AL096773,CH471122,AB020692,AF070542,AF077054,AK022516,AK022528,AK130392,AK290146,AL050150,AL110192,AY049788,BC017662 AAH21692,AAH32446,CAH18231,CAH18269,O75534,Q68DF1,Q8WU01,Q96L66,Q9GZV0,Q9UG12,Q9UG93,CAL37736,CAL38044,CAL38356,CAL38492,CAL38500,NP_009089,NP_001007554,NP_001123995,CAI18825,CAI18826,EAW56612,EAW56613,EAW56614,EAW56615,EAW56616,EAW56617,EAW56618,EAW56619,BAA74908,AAC28634,AAD27787,BAB14073,BAB14080,BAF82835,CAB43294,CAB53670,AAL15445 Hs.69855 D1S155E|DKFZp779B0247|DKFZp779J1455|FLJ26882|RP5-1000E10.3|UNR N-ras upstream gene protein|NRAS-related|OTTHUMP00000013882|OTTHUMP00000013883|cold shock domain-containing protein E1|upstream of NRAS protein-coding 1353910 CSE choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) 8808284 1433 1316788 CSE1L CSE1 chromosome segregation 1-like (yeast) Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. [provided by RefSeq] 20936779,9323134,17719542,7479798,18439902,18425415,18377724,16786158,15489334,15324660,14718574,12972425,12510150,12477932,12061792,11927559,11780052,11724300,11703094,11295109,10523667,10331944,9786944,9373149,8963895,8639641,8125298,16169070,20150437,19224336,19615732 1434 AK299549,AK300589,AK307965,AK312306,BC108309,BC109313,BC109314,BG392946,CR591648,CR612647,EF426455,U33286,AF053645,AF053651,AL121903,AL133174,CH471077,AF053640,AF053641,AF053642,AK098618,AK225610,AK297270,AK297314,AK298477,NM_001316 BAG61494,BAG62287,BAG35231,AAI08310,AAI09314,AAI09315,ABO15009,AAC50367,P55060,ACE87791,NP_001307,AAC35297,CAI19615,CAI42818,EAW75676,EAW75677,AAC35007,AAC35008,AAC35009,BAG59743,BAG59779,BAG60688,ACT64453 Hs.90073 CAS|CSE1|MGC117283|MGC130036|MGC130037|XPO2 cellular apoptosis susceptibility protein|chromosome segregation 1-like protein|exp2|exportin-2|importin-alpha re-exporter protein-coding 731066 CSF1 colony stimulating factor 1 (macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 2293710,2293638,2293640,2293641,2293639,628338,734837 10652277,2460758,3264878,1791839,18566389,1739124,17244792,10666185,19017797,19453261,19443701,19432671,19008293,19004987,18852899,18724005,18718581,18708368,18676750,18668547,18632616,18619508,18510570,18467591,18435789,18322228,18219369,17967422,17922812,17918257,17916748,17589498,17532041,17516513,17443671,17431224,17420255,17368603,17355643,17243911,17192722,17108334,16951369,16859503,16844084,16673212,16407111,16344560,16320327,16318581,16267391,16204228,15944252,15919699,15866728,15820145,15728521,15640942,15624698,15576295,15494511,15489334,15358207,15261158,15256272,15116247,15001836,14654075,14634568,14605992,12929928,12928417,12894871,12890905,12865350,12790839,12749918,12684699,12548211,12501178,12477932,12456016,12411027,12393446,12372416,12032835,11843897,11792569,11739737,11387343,11369790,11297560,11248655,10857771,9632647,9147389,9131001,8981357,8804363,8422357,8355686,8336080,8262907,8086034,7696959,3500041,3498652,3493529,3264877,3259875,3039346,2996129,2660794,2408759,2145044,1733926,1571567,1540160,1531650,1455231,1334406,15780937,18606301,20485444,19913121,20628086,20628624,20673868,17353186,18751872,18996518,19196448,19561083,19641137,19711348,19926892,19950360,20237496,20436471,20452482,20504948,20925194 2293710,2293638,2293640,2293641,2293639,628338,734837 1435 NM_000757,NM_172211,NM_172212,NM_172210,AL450468,CH471122,CS166282,CS166284,CS166286,M11038,M11295,M11296,X06106,AK291660,AK300401,AK311440,BC021117,DA414355,DB287787,M27087,M37435,M64592,M76453,U22386,X05825,HI519552,HI638410,HI638412,HI638414 NP_000748,NP_757350,NP_757351,NP_757349,CAH71146,CAH71147,CAH71148,EAW56416,EAW56417,EAW56418,EAW56419,EAW56420,EAW56421,CAJ32234,CAJ32235,CAJ32236,AAB59527,CAA29479,BAF84349,BAG62132,AAH21117,AAA59573,AAA52117,AAA59572,AAA52120,AAA64849,CAA29265,P09603,Q5VVF2,Q5VVF3,CBX54357,CBX55878,CBX55879,CBX55880 Hs.591402 MCSF|MGC31930 CSF-1|OTTHUMP00000013364|OTTHUMP00000013365|lanimostim|macrophage colony stimulating factor|macrophage colony-stimulating factor 1 protein-coding 737004 CSF1R colony stimulating factor 1 receptor The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. [provided by RefSeq] 2299119,2293712,2299092,2293711,2293638,1580863 8981357,2421165,19453261,19377443,19351817,19321746,19151756,19017797,18997822,18971950,18814279,18788612,18676680,18593464,18565574,18510570,18294963,17981568,17960171,17893228,17880962,17675037,17420255,17360941,17292918,16823860,16708222,16648572,16631474,16341674,16335952,16170366,16034075,15626739,15297464,15144560,15117969,14738146,14654075,12773394,12529666,12485477,12477932,12381783,12372416,12133942,12130514,12031912,11891846,11852791,11847211,11297560,10499626,10022833,9624537,9616179,9380408,9191055,9178909,9027509,8947469,8922060,8786123,8355686,8262059,8001978,20974809,7681396,7636265,4028159,3974576,3532121,3525854,3484837,3022923,2986142,2978516,2846185,2524648,2524025,2408759,2406720,2172781,1833648,1829836,1611909,1334406,9857184,10597251,15735664,20574656,20181277,20504948,19170196,19375163,19585521,19625176,19692168,19762488,20098615,20379614,7520523 2299119,2293712,2299092,2293711,2293638 1436 NM_005211,NG_012303,AC011382,CH471062,CS166288,K03012,M11067,M14002,U63963,U78096,AB208819,AK294467,AK304491,BC047521,BC129939,BM825705,BQ028933,BX648599,CR613133,EU826593,M14193,M25786,X03663,FB505362,HI638416 NP_005202,EAW61749,EAW61750,CAJ32237,AAA88039,AAA35848,AAA35849,AAB51696,AAB51235,BAD92056,BAG57697,BAG65300,AAH47521,AAI29940,ACF47629,AAA35834,AAA58421,CAA27300,P07333,Q59HE0,Q6LEI2,Q86VW7,CAV32774,CBX55881 Hs.586219 C-FMS|CD115|CSFR|FIM2|FMS CD115 antigen|CSF-1-R|FMS proto-oncogene|McDonough feline sarcoma viral (v-fms) oncogene homolog|OTTHUMP00000224093|macrophage colony stimulating factor I receptor|macrophage colony-stimulating factor 1 receptor|proto-oncogene c-Fms protein-coding 1354508 CSF2 colony stimulating factor 2 (granulocyte-macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq] 1580863 19913121,20485444,20536507,20603037,20628086,20673868,15129224,15123671,15078892,15009203,14730225,14726527,14662891,14630612,14628073,14567558,14564341,14530365,14512323,14503968,13679820,12954601,12935848,12928384,12926133,12855588,12759409,12744771,12743567,12695562,12663443,12646185,12637324,12629028,12615367,12568301,12562384,15136573,12548211,12538575,12496443,12488507,12477932,12444058,12421569,12397015,12356582,12356579,12171249,12162871,12144536,12050184,12031914,12022701,11963838,11956032,11883735,11880043,11855781,11847009,11763346,11522597,11289721,10734053,10572088,9211889,8910448,8516290,8278375,7957082,7818827,7727786,7695626,3925454,3923623,3898082,3876930,3486413,3083507,2645577,1837174,1737041,1702217,1675789,1569568,15481145,1918997,8018916,7642615,20811626,20959405,21052690,21071541,20802406,10477722,20956574,9162089,2999978,18692472,10666185,9722506,19032770,19494510,19479237,19453261,19379606,19282464,19263529,19258923,19247692,19230854,19225544,19222422,19158269,19141860,19131662,19131452,19050289,19028820,18974840,18974369,18971287,18926300,18830265,18804273,18755511,18701168,18676680,18523302,18441098,18439101,18434187,18353856,18219369,18089573,18027871,17938902,17934321,17914409,17894541,17713553,17703412,17681858,17619839,17533050,17512774,17362254,17355643,17342342,17311927,17273755,17205286,17142110,16949316,16912178,16896315,16783532,16716376,16491014,16487109,16380083,16305336,16211258,16167889,16027123,15927668,15621725,15576295,15541716,15528381,15489334,15479432,15475489,15388264,15388258,15372022,15358207,15340054,15308671,15269821,15245433,15218949,15201279,19164476,19170196,19324950,19559392,19560459,19578876,19625176,19692168,19699526,19730683,19773451,19807655,20015396,20056792,20078425,20452482,20503287,20527084,20382843,20233331,20483917 1437 HC025839,HI574012,CS401638,NM_000758,AC004511,AC034228,AF373868,CH471062,M13207,X03021,AF510855,AY720441,BC108724,BC113924,BC113999,M10663,M11220,M11734 CBH19850,CBX47495,CAL40350,NP_000749,AAC08707,AAK51563,EAW62353,AAA98768,CAA26822,AAM44054,AAU21240,AAI08725,AAI13925,AAI14000,AAA52121,AAA52578,AAA52122,P04141,Q647J8 Hs.1349 GMCSF|MGC131935|MGC138897 CSF|colony-stimulating factor|granulocyte-macrophage colony stimulating factor|granulocyte-macrophage colony-stimulating factor|molgramostin|sargramostim protein-coding 1351351 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq] 1580863 17474147,1358805,2555171,19281803,18955570,18955567,18692472,18678938,18547720,18236400,17681666,17522711,16760463,15489334,14614142,14504109,12759409,12670335,12637324,12604332,12538575,12504125,12477932,12421947,12393492,12384414,11238105,11169747,10734053,10584986,10572088,9723668,9625584,9446667,9211889,9028317,8943427,8910448,8547489,8144676,8086503,7994031,7945472,2828352,2148207,1972780,1832774,1715577,1702217,7957082,10477722,20078425,9685210 1438 NM_006140,NM_172246,NM_172249,NM_172245,NM_172247,NG_012280,NM_001161529,NM_001161530,NM_001161531,NM_001161532,NR_027760,BX649553,CH471074,D26628,S48475,S48539,AK293086,AK301395,AL833597,BC002635,BC071835,BI868829,BM149332,DQ841258,L29348,L29349,M64445,M73832,U93096,X17648,X54935 NP_006131,NP_758449,NP_758452,NP_758448,NP_758450,NP_001155001,NP_001155002,NP_001155003,NP_001155004,CAI95722,CAI95723,CAI95725,CAI95726,CAI95727,CAI95728,CAI95729,EAW98673,EAW98674,EAW98675,EAW98676,EAW98677,EAW98678,BAA05656,AAB23942,BAF85775,BAG62930,AAH02635,AAH71835,ABI32309,AAA60961,AAA60962,AAA35908,AAA35909,AAB51535,CAA35638,CAA38697,P15509,Q16498,ABM84030,ABM87375 Hs.520937 CD116|CDw116|CSF2R|CSF2RAX|CSF2RAY|CSF2RX|CSF2RY|GM-CSF-R-alpha|GMCSFR|GMR|MGC3848|MGC4838 CD116 antigen|GM-CSF receptor alpha subunit|GMCSFR-alpha|GMR-alpha|OTTHUMP00000014918|OTTHUMP00000014919|OTTHUMP00000014920|colony stimulating factor 2 receptor alpha subunit|granulocyte-macrophage colony-stimulating factor receptor alpha chain|granulocyte-macrophage colony-stimulating factor receptor subunit alpha protein-coding 1348418 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq] 632531,1601020,1580863 19913121,20628086,20654748,20472554,20516062,20802515,9410898,17828305,1702217,19065143,18804346,18692472,18547720,18374598,18326494,18322230,18294864,17667962,17362254,9389692,9278420,9257712,9254654,9211889,9195918,9162089,8752899,8666948,8666899,8649415,8631962,8278375,8246974,8213838,8180376,7896837,7796808,7775438,7682176,7636265,7556069,2645577,2157779,2151610,1833065,1833064,1638019,1424804,7527392,1495999,16767694,16754968,16007196,15461802,15308671,15060062,12488507,12477932,12393492,12384414,12202242,11557047,11551900,11207369,11122381,11101310,10772872,10753826,10736232,10704825,10490850,10477722,10362354,9973406,9677359,9516124,19453261,20078425,21071541 632531,1601020 1439 NM_000395,NG_008040,AL008637,AL133392,CH471095,AK302993,BC070085,CR456428,M59941,CR604461 CAQ10745,NP_000386,CAI17999,EAW60125,EAW60126,BAG64130,AAH70085,CAG30314,AAA18171,P32927,Q6NSJ8,CAK54420,CAK54719 Hs.592192 CD131|CDw131|IL3RB|IL5RB GM-CSF/IL-3/IL-5 receptor common beta subunit|GM-CSF/IL-3/IL-5 receptor common beta-chain|OTTHUMP00000197802|colony-stimulating factor-2 receptor, beta, low-affinity|cytokine receptor common subunit beta|interleukin 3 receptor/granulocyte-macrophage colony stimulating factor 3 receptor, beta (high affinity) protein-coding 1349987 CSF2RB2 colony stimulating factor 2 receptor, beta, 2 pseudogene 10591208 23772 NG_002638,AL133392 fF45C1.2 pseudo 1350955 CSF3 colony stimulating factor 3 (granulocyte) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes. The active protein is found extracellularly. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 1580863 19913121,20435882,20485444,20628086,20673868,14587040,12954601,12946100,12717025,12676791,12636092,12627849,12568301,12562880,12548211,12477932,12456601,12397015,12393561,12152985,12034575,12027409,12009905,11920209,11877288,11861308,11795665,11436203,10617744,10584986,10473051,10364174,8794774,8708536,8554326,7685117,7524894,7522243,7518249,3501046,3499671,3494801,3484805,15664994,12393522,2420009,19453261,19258923,19172109,3034599,2456256,2453015,2448221,2423327,1692828,1281794,1281454,19151252,19141860,18952897,18806347,18785976,18676680,18675273,18633131,18597629,18537187,18515229,18484240,18358673,18353856,18297540,18219369,18196568,18095095,18029348,17894541,17879956,17852446,17703412,17572226,17342342,17176065,17115186,17047971,16980970,16912178,16822885,16735597,16498082,16492764,16230423,16211258,16051386,16037394,15616013,15576295,15218949,15214947,15019810,14769149,14751388,20557950,20957751,16712791,20523065,20021260,20179985,20237318,20012635,20959405,19526310,15028279,15622763,19170196,19539215,19625176,19640182,19692168,19789190,20172861,20237496,20361316,20452482,20503287,20680910 1440 CH471152,M13008,X03656,AK290247,AK298116,AK313509,BC033245,CR541891,M17706,M20922,X03438,X03655,NM_172220,NM_000759,NM_172219,AC090844,AF388025,FB704344,HM132049,AB102881,CB127794,CD013926,NM_001178147,NR_033662 AAK62469,EAW60626,EAW60627,EAW60628,AAA03056,CAA27291,BAF82936,BAG60399,BAG36289,AAH33245,CAG46689,AAA35882,AAA66353,CAA27168,CAA27290,P09919,Q6FH65,Q8N4W3,NP_757374,NP_000750,NP_757373,CAS03439,ADI49832,BAD89410,NP_001171618,Q5FBY7 Hs.2233 C17orf33|CSF3OS|G-CSF|GCSF|MGC45931 filgrastim|granulocyte colony-stimulating factor|lenograstim|pluripoietin protein-coding 1319271 CSF3R colony stimulating factor 3 receptor (granulocyte) The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Four transcript variants encoding four different isoforms have been found for this gene, with three of the isoforms being membrane-bound and the other being secreted and soluble. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq] 20471446,20654748,20237318,7775438,7682568,7514305,7512720,2480598,2147944,1833306,1717255,1701053,1530796,7542747,1371413,19258923,18923646,18536571,17703412,17572226,17494858,17187068,17047971,17024119,16985178,16493051,16492764,16033816,15644419,15489334,15470047,15370243,15123426,14992583,14751388,14737106,14587040,20696205,16344560,20557950,14557262,12660437,12586631,12477932,12422946,12133942,12100165,12012328,11920194,11911419,11714811,11468284,10837195,10729720,10364174,9864141,9824671,9790917,9368043,9187659,8889548,8855939,8708536,8664280,8554326,8197119,19453261,19453968,19620628,19833857,20503287 1441 NM_156039,NM_000760,NM_172313,AC119675,AY148100,CH471059,S71484,AB209656,AK307242,BC040954,BC053585,BI912247,BU681211,CR610771,CR611411,CR612645,CR612729,DQ424902,M59818,M59819,M59820,X55720,X55721,BX370109,DA858302,NG_016270 NP_724781,NP_000751,NP_758519,AAN05790,EAX07354,EAX07355,EAX07356,EAX07357,EAX07358,AAB20660,BAD92893,AAH53585,ABD83667,AAA63176,AAA63177,AAA63178,CAA39252,CAA39253,Q1ZYL6,Q59F05,Q99062 Hs.524517 CD114|GCSFR CD114 antigen|G-CSF receptor|G-CSF-R|OTTHUMP00000009703|OTTHUMP00000009704|OTTHUMP00000009705|granulocyte colony-stimulating factor receptor protein-coding 1601858 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 12163485,11514575,11788602,17145758,16344560,15489334,14702039,12975309,12477932,12446672,19701759,19730683,20379614 55790 NR_024040,NM_018371,NM_001130518,AC090541,AC090786,AC116376,CH471080,AB071403,AB081516,AK002124,AK002126,AK023822,AK055154,AK314625,AL157483,AY358441,BC060772,BQ016671,BX104931,BX649103,CR596296,CR998055,DA244956,DA404904,DA981630 NP_060841,NP_001123990,EAW63770,EAW63771,EAW63772,BAB85992,BAC16217,BAA92093,BAG51476,BAG37191,CAB75673,AAQ88806,AAH60772,Q8TDX6 Hs.613729,Hs.721954 CSGalNAcT-1|ChGn|FLJ11264|FLJ13760|beta4GalNAcT beta4GalNAcT-1|chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1|chondroitin beta1,4 N-acetylgalactosaminyltransferase|chondroitin sulfate N-acetylgalactosaminyltransferase 1 protein-coding 1604805 CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 11788602,15489334,14702039,12477932,12446672,12433924,16385451,19196962 55454 NM_018590,AC010864,CH471160,AB079252,AB090811,AF086458,AF116646,AK074474,AK125300,BC030268,BX640967,BX641073 NP_061060,EAW86586,EAW86587,BAC55935,BAC55936,AAF71068,BAB85092,BAG54179,AAH30268,CAE45982,CAE46036,Q8N6G5,ABM82395,ABM85579 Hs.657569 CHGN2|DKFZp686H13226|FLJ43310|GALNACT-2|GALNACT2|MGC40204|PRO0082 beta 4 GalNAcT-2|beta4GalNAcT-2|chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2|chondroitin beta1,4 N-acetylgalactosaminyltransferase 2|chondroitin sulfate GalNAcT-2|chondroitin sulfate N-acetylgalactosaminyltransferase 2 protein-coding 1352564 CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq] 1580863 20427283,1378436,593368,19047151,18292525,17400796,17125497,16950818,16807684,16546209,16410683,15713716,15531513,15489334,15231748,15001589,14997482,14702039,14673137,14642004,12682290,12655557,12644709,12477932,11897833,11502836,10966654,10931946,10391209,9329365,9276733,9152628,8943276,8674830,8552145,7984244,7462247,7356479,7169009,7028740,6300056,6269091,6209277,6208192,5810834,5286363,5279528,5279046,5144027,4712450,4675454,3912261,3447173,3030680,2744760,1980158,1549776,611657,438159,386281,377496,71212,20881960,19290844,20233782,20237496,9312053,17207965 1442 NM_022641,NM_022640,NM_001317,NG_001334,AC040958,AC127029,CH471109,EU421714,J03071,K02401,M90545,AK291587,BC002717,CR592885,CR592981,CR592996,CR593277,CR593393,CR593413,CR593469,CR593660,CR593959,CR594027,CR594159,CR594237,CR594291,CR594302,CR594342,CR594377,CR594515,CR594577,CR594619,CR594776,CR594778,CR594835,CR594864,CR594905,CR595279,CR595296,CR595351,CR595662,CR595713,CR595921,CR596026,CR596027,CR596250,CR596365,CR596447,CR596504,CR596539,CR596602,CR596625,CR596910,CR596940,CR597231,CR597430,CR597599,CR597646,CR597749,CR597767,CR598212,CR598220,CR598246,CR598293,CR598407,CR598419,CR598457,CR598505,CR598579,CR598783,CR598863,CR598937,CR599098,CR599161,CR599408,CR599528,CR599531,CR599591,CR599639,CR599883,CR599897,CR599911,CR600155,CR600410,CR600413,CR600635,CR600641,CR600736,CR600909,CR601031,CR601066,CR601165,CR601307,CR601342,CR601370,CR601491,CR601677,CR602006,CR602268,CR602514,CR602518,CR602672,CR602737,CR602849,CR602888,CR603173,CR603324,CR603406,CR603528,CR603759,CR603809,CR603820,CR603907,CR604049,CR604195,CR604276,CR604462,CR604805,CR604889,CR604939,CR604979,CR605026,CR605118,CR605365,CR605382,CR605508,CR605692,CR605776,CR605778,CR605784,CR606041,CR606093,CR606289,CR606291,CR606466,CR606591,CR606598,CR606712,CR606743,CR606840,CR606854,CR606994,CR607050,CR607091,CR607149,CR607428,CR607493,CR607531,CR607572,CR607763,CR607823,CR607891,CR607961,CR608146,CR608401,CR608457,CR608724,CR608744,CR608751,CR609023,CR609208,CR609245,CR609286,CR609350,CR609419,CR609620,CR609656,CR609696,CR610209,CR610224,CR610286,CR610355,CR610435,CR610446,CR610498,CR610642,CR610745,CR610814,CR610828,CR610940,CR611027,CR611038,CR611412,CR611453,CR611498,CR611505,CR611694,CR611962,CR612166,CR612322,CR612383,CR612411,CR612449,CR613125,CR613313,CR613375,CR613416,CR613452,CR613646,CR613660,CR613696,CR613721,CR613771,CR614101,CR614158,CR614306,CR614423,CR614693,CR614793,CR614858,CR615097,CR615133,CR615316,CR615426,CR615728,CR615810,CR615867,CR615975,CR615978,CR616170,CR616422,CR616436,CR616611,CR616660,CR616752,CR616833,CR616852,CR617071,CR617072,CR617241,CR617268,CR617369,CR617479,CR617499,CR617529,CR617668,CR617983,CR618004,CR618078,CR618132,CR618200,CR618470,CR618593,CR618653,CR618703,CR618794,CR618933,CR618986,CR618992,CR619044,CR619094,CR619097,CR619103,CR619105,CR619286,CR619316,CR619357,CR619425,CR619564,CR612546,CR619594,CR619645,CR619648,CR619674,CR619799,CR619934,CR619986,CR620014,CR620049,CR620140,CR620157,CR620169,CR620524,CR620822,CR620891,CR620937,CR621002,CR621080,CR621181,CR621648,CR621891,CR621919,CR621954,CR622008,CR622059,CR622127,CR622152,CR622470,CR622602,CR622748,CR623229,CR623264,CR623276,CR623287,CR623298,CR623401,CR623417,CR623451,CR623469,CR623542,CR623570,CR624109,CR624178,CR624232,CR624472,CR624505,CR624534,CR624647,CR624985,CR625043,CR625104,CR625149,CR625374,CR625582,CR625774,CR625838,CR625867,CR626011,CR626031,CR626130,CR626176,CR626221,CR626395,CR626454,CR626463,CR626639,CR626704,CR626712,J00118,M25118,V00593,HC006886,BC020756,BC057768,BC062775,BT006926,CR589999,CR590057,CR590060,CR590382,CR590494,CR590503,CR590588,CR590632,CR590715,CR590740,CR590802,CR590972,CR591160,CR591321,CR591340,CR591417,CR591525,CR591705,CR591739,CR592017,CR592104,CR592334,CR592481,CR592486,CR592502,CR592728,CR592879,BC005921 NP_072167,NP_072166,NP_001308,EAW94235,EAW94236,EAW94237,EAW94241,EAW94243,EAW94254,EAW94257,EAW94259,ABZ88716,ABZ88717,ABZ88718,AAA52551,AAA52115,BAF84276,AAH02717,AAA98621,AAA35721,CAA23840,P01243,Q6PF11,Q7KZ35,CBH19248,AAH05921,AAH20756,AAH57768,AAH62775,AAP35572,ADQ31682 Hs.654390 CSA|CSH2|CSMT|FLJ75407|PL CS-1|choriomammotropin|chorionic somatomammotropin A|chorionic somatomammotropin hormone|hCS-A|lactogen|placental lactogen protein-coding 1351257 CSH2 chorionic somatomammotropin hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq] 1580863 15531513,15489334,15231748,12703979,12477932,10944529,9312053,8674830,7169009,7072716,6300056,6209277,6208192,5286363,4712450,3030680,2744760,1980158,1378436,593368,438159 1443 J00289,J03071,M15894,BC022044,BC035965,BC119748,CR590350,CR590900,CR590903,CR591265,CR591961,CR592855,CR593623,CR594269,CR594288,CR597810,CR597949,CR598163,CR601850,CR601852,CR601892,CR604297,CR604575,CR605300,CR606319,CR607879,CR608255,CR609279,CR610153,CR610284,CR610936,CR611264,CR612077,CR612273,CR613557,CR613577,CR614133,CR614147,CR614173,CR614319,CR614464,CR615313,CR615376,CR615915,CR619169,CR620501,CR620642,CR621021,CR621851,CR621985,CR622231,CR622588,CR622910,CR622947,CR623104,CR623447,CR623454,CR624074,CR625026,V00573,NM_022645,NM_022644,NM_020991,NG_001334,AC015651,EU421716 ABZ88725,AAA98747,AAA52553,AAA52116,AAH22044,AAH35965,AAI19749,ABZ88724,CAA23836,P78451,ABM83752,ABM87071,NP_072171,NP_072170,NP_066271,ABZ88723 Hs.654390,Hs.654515 CS-2|CSB|hCS-B chorionic somatomammotropin B|chorionic somatomammotropin hormone 2|placental lactogen protein-coding 1342785 CSHL1 chorionic somatomammotropin hormone-like 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 19913121,20628086,2744760,12477932,8083227,3030680,1980158,1378436,12370315 1444 NM_001318,NM_022580,NM_022579,NM_022581,NG_001334,AC127029,CH471109,EU421713,J03071,M15895,BC029365,BC119747,CR595432,CR609317,CR618037,CR622660,CR622959,HC006888 NP_001309,NP_072102,NP_072101,NP_072103,EAW94245,EAW94246,EAW94250,EAW94253,EAW94262,EAW94264,AAA52550,AAH29365,AAI19748,Q14406,CBH19249 Hs.655225 CS-5|CSHP1|CSL|MGC149868|hCS-L chorionic somatomammotropin CS-5|chorionic somatomammotropin hormone-like 1|chorionic somatomammotropin-like|growth hormone cluster|lactogen-like protein-coding 1318780 CSK c-src tyrosine kinase 1580863 16740711,9553134,9373149,9221755,9208935,9172452,9148770,9110174,8619474,8612628,8262983,8125298,7683131,7678701,7544435,7529872,7515063,7513429,7511113,1985196,1720539,1377109,1371489,11872746,11834728,12048194,12402152,9858471,11724572,15175272,17137590,17132222,17125257,17060931,17056000,17018524,17012367,16964398,16859511,16858407,16636672,16532030,16439366,16135530,16002086,15961079,15890649,15861137,15749833,15743820,15623523,15489334,15474475,15144186,14993273,14707140,14702039,14657361,14610046,14561750,12871315,12794155,12782282,12707358,12697812,12686554,12665526,12645577,12588871,12547828,12485116,12477932,12473651,12468645,12400005,12387813,12052863,11976726,11971983,11805080,11724538,11695992,11685249,11602604,11433379,11278940,11181701,11158295,11149930,11084024,11035005,10918051,10801129,10753943,10733577,10210201,10037694,10026153,9794236,9624175,9621077,9582365,18029348,21045733,8890164,1945408,15574420,10790433,19288857,19198071,19018258,18482983,18445593,18332219,18268019,18258597,18039857,17951261,17936985,17936276,17692281,17691821,17525734,17491594,17329398,17325034,17223712,17192257,17143285,19757166,16729043,20434462,19913121,20542020,20628086,11875070,16005629,16380958,18614016,19147678,19167335,19430479,19430483,19464057,19520085,19561643,19887846,19888460,19960030,20010872,20056178,20414254,20453000,20479155 1445 NM_001127190,AC091230,CH471136,DQ075211,X74765,AB451288,AB451420,AK127672,AK223626,AK290531,AK297694,AK298245,AK309344,AK312669,AW575209,AY007162,BC104847,BC104875,BC106073,CR541960,CR620625,X59932,X60114,NM_004383,AK310136 Q53EL3,NP_004374,NP_001120662,EAW99311,EAW99312,AAY57329,CAB58562,BAG70102,BAG70234,BAG54548,BAD97346,BAF83220,BAG60052,BAG60511,BAG35551,AAI04848,AAI04876,AAI06074,CAG46758,CAA42556,CAA42713,P41240 Hs.77793 MGC117393 C-Src kinase|protein-tyrosine kinase CYL|tyrosine-protein kinase CSK protein-coding 1312937 CSMD1 CUB and Sushi multiple domains 1 20610895,19383911,19240061,19132087,19010793,18614856,18519826,16547280,16421571,16221525,16203795,16153303,15342556,15138198,14702039,14671302,14506705,12975309,12906867,12874026,12696061,11572484,11472063,20944657,20953187,15203218,19276661,19960030,20125193,20200978,20379614,20709820 64478 NM_033225,AC009428,AC009707,AC010941,AC012543,AC021523,AC022068,AC022846,AC022910,AC023296,AC026991,AC027251,AC087367,AC087692,AC090875,AC103782,AC103826,AC105998,AC107945,AC113147,AC135324,AY407073,CH471153,FJ695212,AA889055,AB067477,AB209502,AF333704,AK126857,AK126936,AK127129,AW293447,AY017307,AY358174,BP229721,BX107340,CD634856,D51420 NP_150094,EAW80463,EAW80464,BAB67783,BAD92739,AAK73475,AAG52948,AAQ88541,Q59FF8,Q96PZ7,AAI56305 Hs.571466 KIAA1890 CUB and sushi domain-containing protein 1|CUB and sushi multiple domains protein 1 protein-coding 1347365 CSMD2 CUB and Sushi multiple domains 2 1580863 18839057,20171287,20360844,20379614,17474147,16710414,16429158,15489334,14702039,12906867,12477932,11572484,19913121,20628086,19240061 114784 AB212622,AK022620,AK095627,AK122603,AK127722,AK291019,AY210418,BC031871,AC115285,AC115286,AC116993,AL121980,AL139140,AL161643,AL355178,AL596224,AL607106,CH471059,AB067471,NM_052896 BAD97692,BAC04593,BAC87101,BAF83708,AAO34701,AAH31871,Q53TY4,Q5TAH7,Q7Z408,NP_443128,CAI19066,CAI23498,CAI23434,CAI23435,EAX07447,EAX07448,EAX07449,EAX07450,EAX07451,BAB67777 Hs.656915 KIAA1884|dJ1007G16.1|dJ1007G16.2|dJ947L8.1 CUB and Sushi (SCR repeat) domain|CUB and sushi domain-containing protein 2|CUB and sushi multiple domains protein 2 protein-coding 1316806 CSMD3 CUB and Sushi multiple domains 3 19528667,20379614,18270536,15523607,14702039,12943675,12906867,12477932,11572484,20589678 114788 CH471060,AB067481,AB114604,AB114605,AK095111,AK126252,AY210419,BC140003,BX648252,AC107890,NM_052900,NM_198123,NM_198124,AC007719,AC009424,AC021264,AC024996,AC027189,AC055788,AC067903,AC087710,AC104380 EAW91944,EAW91945,EAW91946,EAW91947,EAW91948,BAB67787,BAC82443,BAC82444,AAO34702,AAI40004,Q7Z407,NP_443132,NP_937756,NP_937757 Hs.91381 KIAA1894 CUB and sushi domain-containing protein 3|CUB and sushi multiple domains protein 3|OTTHUMP00000211325 protein-coding 1606842 CSN1S1 casein alpha s1 16683014,12633878,11329013,10971580,9820977,9050925,8192860,7698025,7556643,7665586,7619062,20936779,21135174,12477932,12878203,18173839 1446 NM_001890,NM_001025104,AC108941,CH471057,BC128227,BC128228,BG217918,DQ064604,U23157,X78416,X98084 NP_001881,NP_001020275,EAX05598,EAX05599,EAX05600,AAI28228,AAI28229,AAY68392,AAA69477,CAA55185,CAA66708,P47710,Q4PNR5 Hs.3155 CASA|CSN1|MGC149368 OTTHUMP00000219140|OTTHUMP00000219141|OTTHUMP00000219143|alpha-S1-casein|casein, alpha protein-coding 1343658 CSN1S2A casein alpha s2-like A This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq] 1580863 13679022,12477932,12751895 286828 NR_003720,AC063956,CH471057,AY154892,BC128170,BC128173,BC141914,BC150502 EAX05608,AAN85580,Q8IUJ1 Hs.631945 CSN1S2A pseudo 1352220 CSN1S2B casein alpha s2-like B This locus is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq] 13679022,12751895 100337616 AW104440,AC104811,NR_033311 Hs.518795 CSN1S2B pseudo 1352883 CSN2 casein beta 1580863 2387396,19400951,16973758,16947075,15489334,12860119,12788072,12477932,12146463,10971580,9795185,9187653,8565637,8112603,7698025,6715339,2717418,1577486,1382974,11864968,20936779,15618286,19463972 1447 NM_001891,A24287,AC063956,AC108941,AF027807,CH471057,BC069554,BC096194,BC096195,BC096196,BC096197,X13766,X17070,X55739,A30262 NP_001882,CAA01728,AAC82978,EAX05601,EAX05602,AAH69554,AAH96194,AAH96195,AAH96196,AAH96197,CAA32017,CAA34916,CAA39270,P05814,CAA02017 Hs.2242 CASB beta-casein protein-coding 1349233 CSN3 casein kappa 1580863 1296818,17846126,15866733,15489334,12477932,12146463,11329013,10191473,9050925,8863730,7460900,4018271,12220626,17207965,11827172,17350042,18482256,18505157 1448 NM_005212,U51899,BC010935,BG191674,M73628,X66417,AC105347,CH471057 EAX05614,AAC50772,AAH10935,AAA59456,CAA47048,P07498,ADQ32820,NP_005203 Hs.54415 CSN10|CSNK|KCA kappa-casein protein-coding 736167 CSNK1A1 casein kinase 1, alpha 1 2293188,1580863 19913121,20628086,10930456,10413673,9765199,9630228,9391750,9360956,9045708,8972483,8404858,8253806,8050587,7797465,7622570,7559483,1409656,20696773,18305108,18067272,10777483,11955436,12000790,12820959,15327769,16753179,19185594,19118383,19050041,18669630,18590726,18411282,18246126,17626781,17192257,16943283,16880514,16565220,15761153,15687492,15635413,15489334,15131121,15003508,14574644,14558941,12477932,12210746,12062430,11884395,11875057,11779193,11583622,11500362,11278595,10961987,16024788,16061179,16511560,16616143,17318175,19244247,19426738,19759023,19797085,19805514,20348946 2293188 1452 NM_001025105,AC021078,CH471062,AF218004,AF447582,AK293761,AK294099,AK294942,AK303794,NM_001892,AL701526,BC007246,BC008717,BC009186,BC020446,BC021971,BC025371,BC040473,BC105984,BT019829,BT019830,CR542206,CR618660,DQ082865,L37042,X80693 NP_001883,NP_001020276,EAW61767,EAW61768,EAW61769,EAW61770,EAW61771,EAW61772,EAW61773,EAW61774,EAW61775,EAW61776,AAG17246,AAL60204,BAG57180,BAG57435,BAG58018,BAG64751,AAH07246,AAH08717,AAH21971,AAH25371,AAV38632,AAV38633,CAG47002,AAY84562,AAC41760,CAA56710,P48729,Q05DL3,Q6PJ06,Q71TU5,Q8WXF2,Q9P137 Hs.529862,Hs.712555 CK1|HLCDGP1|PRO2975 CKI-alpha|OTTHUMP00000224000|OTTHUMP00000224001|OTTHUMP00000224003|casein kinase I isoform alpha|down-regulated in lung cancer protein-coding 1352235 CSNK1A1L casein kinase 1, alpha 1-like 1580863 15489334,12477932,11708798 122011 NM_145203,AL391383,CH471075,BC028723 NP_660204,CAI15195,EAX08587,AAH28723,Q8N752,ABM82157,ABM85341 Hs.512897 CK1|MGC33182|RP11-532O21.2 CKI-alpha-like|casein kinase I alpha S-like|casein kinase I isoform alpha-like protein-coding 2306146 CSNK1A1P casein kinase 1, alpha 1 pseudogene 12477932 161635 NR_027320,AC019016,BC028192,BC066972,BG723784 Hs.659822 CSNK1A1P pseudo 4108843 CSNK1A1P2 casein kinase 1, alpha 1 pseudogene 2 20031604 120321 AP000619,NG_001532,U78045 pseudo 4888740 CSNK1A1P3 casein kinase 1, alpha 1 pseudogene 3 100526776 AC022121,NG_027923 pseudo 733311 CSNK1D casein kinase 1, delta This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20637175,17353931,8786104,18977241,18708403,18400165,18228528,17962809,17601350,17562708,17192257,17131344,17081983,16189514,16027726,15800623,15489334,15070676,15003508,14761950,12477932,12270943,12270714,12181329,12000790,11955436,11865049,11818547,11278841,11218372,11165242,11161704,10852916,10826492,10617630,10606744,10500146,9990034,9761932,9632646,9558331,9349507,8972483,7797465,7665585,11076968,12221128,12852856,16462731,16618118,17101137,19805222,19839995,20048001,20149345,20508983,7790358 1453 NM_139062,AC132872,CH471099,U31285,AB091044,AB209463,AK128863,AK291758,AK295638,AK296969,AK303365,AK311248,BC003558,BC015775,BC047000,CR593622,CR598920,CR600739,U29171,NM_001893,EF015900,NG_012828,DC334821,AA825280 NP_001884,NP_620693,EAW89758,EAW89759,EAW89760,EAW89761,EAW89762,AAC50808,BAC10903,BAD92700,BAF84447,BAG58511,BAG59513,BAG64423,AAH03558,AAH15775,AAC50807,P48730,ABM64211,Q59FJ7,ACE87607,ACE86920 Hs.631725 HCKID CKI-delta|CKId|casein kinase 1 delta|casein kinase I isoform delta protein-coding 732829 CSNK1E casein kinase 1, epsilon The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 2306813,1580863 19913121,20628086,14702039,12556519,12477932,12270714,12183362,12000790,11875063,11865049,11818547,11583622,11487578,11232563,10899319,10848614,10790862,10591208,10542239,10535959,9674431,9632646,9430669,9373149,9349507,8125298,14701732,11884395,16009131,17218255,17353931,7797465,19058789,19043076,18991847,18990770,18708403,18571740,18518968,18518925,18400165,18262492,18258753,18228528,17984998,17962809,17192257,17081983,16818876,16616143,16557393,16528748,16513652,16274701,16237383,16189514,15917222,15767683,15747065,15489334,15461802,15302935,15187983,15133026,15070676,15003508,14722104,11076968,12221128,12852856,15327768,16462731,16618118,19693801,19805222,19839995,19874574,19934327,20048001,20072116,20174623,20508983,7790358,20940130,20126544,20507565 2306813 1454 AB091043,CR623072,CR625738,L37043,AK223498,BC006490,BC013088,BQ434269,BQ642398,BT019831,BU517079,CF594072,CR456429,CR590991,CR591261,CR592492,CR594270,CR596620,CR599035,CR601194,CR601968,CR609912,CR614988,CR617099,CR618321,CR618521,CR619665,CR622296,CR622448,NM_001894,NM_152221,AL020993,CH471095,AB024597,NG_016707 AAC41761,P49674,Q53EZ1,Q5U045,CAK54421,CAK54720,ABM83538,ABM86778,BAC10902,BAD97218,AAH06490,AAV38634,CAG30315,NP_001885,NP_689407,CAA15888,CAQ10210,CAQ10211,CAQ10212,CAQ10213,CAQ10214,CAQ10215,EAW60228,EAW60230,EAW60232,EAW60233,EAW60234,BAA92345 Hs.474833 HCKIE|MGC10398 CKI-epsilon|CKIe|OTTHUMP00000199211|OTTHUMP00000199212|OTTHUMP00000199217|casein kinase I isoform epsilon protein-coding 733469 CSNK1G1 casein kinase 1, gamma 1 Casein kinase I is the most abundant serine/threonine kinase in eukaryotic cell extracts. Multiple isoforms of the enzyme exist. The gamma-1 isoform is involved in growth and morphogenesis of eukaryotic cells.[supplied by OMIM] 2293188,1580863,1300048 16344560,15489334,14759258,14702039,12477932,12119564,11124537,9373149,8125298,15003508,11980723,18029348 2293188 53944 NM_022048,AC087632,AC100840,AC110054,CH471082,AB042562,AB042563,AF223357,AK023779,AK025179,AK026957,AK126968,AK225960,AK301858,AL832551,BC017236,BC062995,BC077731,BC130613,BC136504,CF593592,CR599494,CR619586,DB094870 NP_071331,EAW77670,EAW77671,EAW77673,EAW77676,EAW77678,BAB17838,BAB17839,AAO12758,BAB15601,BAH13567,CAI46142,AAH17236,AAI30614,AAI36505,Q8IXA3,Q9H5M4,Q9HCP0,ADR83004 Hs.646508 CKI-gamma 1|casein kinase 1 gamma 1|casein kinase I isoform gamma-1 protein-coding 734368 CSNK1G2 casein kinase 1, gamma 2 1580863,1300048 9403068,19005213,18794808,16189514,15917222,15489334,15342122,15300631,15077195,15057824,15003508,12477932,12062430,9110174,9006905,8619474 1455 NM_001319,AC005306,AC012615,CH471139,AB451278,AB451410,AY007134,BC018693,BC018699,BC020972,BT009922,CA423327,CR994929,U89896,AF001177 NP_001310,AAC26983,EAW69426,EAW69427,EAW69428,EAW69429,EAW69430,EAW69431,BAG70092,BAG70224,AAG01997,AAH18693,AAH18699,AAH20972,AAP88924,AAB88627,P78368,Q9H4N7,AAC00212,ABM81621,ABM84806 Hs.651905 CK1g2 CKI-gamma 2|casein kinase 1 gamma 2 isoform|casein kinase 1 isoform gamma-2|casein kinase I isoform gamma-2 protein-coding 731819 CSNK1G3 casein kinase 1, gamma 3 1580863,1300048 9925945,15489334,15146197,15003508,12477932,7759525,20562859,19451621 1456 NM_001044723,NM_004384,NM_001031812,NM_001044722,AC008541,AC026422,CH471086,AA989359,AF049089,AF049090,AK289405,AK299739,AK316019,BC047567,CN286763 NP_001038188,NP_004375,NP_001026982,NP_001038187,EAW48867,EAW48868,EAW48869,EAW48870,EAW48871,EAW48872,AAD26525,AAD26526,BAF82094,BAG61634,BAH14390,AAH47567,Q9Y6M4 Hs.129206 CKI-gamma 3|OTTHUMP00000159174|OTTHUMP00000159175|OTTHUMP00000223000|OTTHUMP00000223001|OTTHUMP00000223002|casein kinase 1 gamma 3 isoform|casein kinase I isoform gamma-3 protein-coding 733323 CSNK2A1 casein kinase 2, alpha 1 polypeptide Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. While this gene is found on chromosome 20, a related transcribed pseudogene is found on chromosome 11. Three transcript variants encoding two different proteins have been found for this gene. [provided by RefSeq] 19913121,20610541,20628086,20356928,20864032,8376365,8349691,8288648,8270625,8253806,8247525,8206911,8188256,8139011,8107101,8089108,8058322,8024572,8002936,7983041,7961967,7896000,7876254,7846527,7809103,7794926,7794916,7768894,7689229,7678037,7657714,7651819,7646439,7598724,7592773,7565749,7491787,3128543,2998765,2900140,2874131,2806554,2752008,2663470,2557337,11972058,2174700,10799509,19486891,19282287,19165527,19035320,19027835,18824508,18790693,18682247,18662771,18649047,18614797,18607692,18574673,18566754,18566753,18563533,18560764,18553059,18553055,18548200,18363813,18347021,18242640,18089732,18026141,17935135,17923166,17894550,17699575,17670747,17636126,17629615,17545155,17524418,17113388,17106255,17009010,16880508,16874460,16873060,16837460,16806200,16751801,16651637,16581776,16540521,16428860,16426576,16344560,16342410,16308564,16227438,16225457,16193064,16169070,16157582,16133877,16107342,15955816,15818404,15805470,15740749,15684395,15659405,15637053,15557471,15489334,15469824,15385968,15345747,15342635,15324660,15302935,15287743,15218032,15108354,15082798,15066279,15060571,14993654,14985113,14962846,14756785,14729942,14675149,10491318,10471512,10491172,10448092,10403822,10398585,10381337,10350657,10348343,10094407,10066810,10023679,9990034,9930733,9886053,9858576,9834084,9806882,9804834,9733784,9722526,9685505,9677319,9654140,9647734,9600099,9571630,9558331,9525959,9503018,9461343,9446557,14667819,14646071,14645218,14634006,14633983,14614449,14608369,14559993,14527438,14527415,12930845,12876286,12860119,12860116,12769847,12748192,12700239,12659875,12628923,12591939,12588975,12568341,12564933,12558502,12527891,12511551,12477932,12450396,12432063,12393879,12297295,12220519,12191471,12176973,12175859,12145206,12107178,12102635,12082111,12037680,11997511,11956194,11940573,11883897,11877451,11861906,11827178,11827177,11827176,11827174,11827172,11827171,11827170,9407077,9213219,9188720,9185604,9153193,9151826,9139659,9115440,9092824,9074495,9045708,9038206,9030586,8972483,8954982,8939955,8806671,8663403,8663267,8663258,8662759,8659106,8639568,8632909,8622969,8622692,8619999,8592152,8548340,8547318,8491187,8420794,8404858,2492519,2271631,2192260,2117608,2046671,1985907,1894695,1766873,1740119,1577469,1541298,1520270,1516134,1425701,1400350,10944435,10641798,10549869,9881639,10964683,11710515,10094392,18418079,16895915,8943850,11988074,17353931,15778465,15225637,12902976,12149649,15893730,11574463,12901717,11827168,11827167,11827166,11827164,11780052,11756447,11742978,11713579,11711551,11709713,11602581,11583622,11557039,11551505,11535139,11535131,11500362,11439109,11378439,11342557,11313925,11290787,11278496,11255227,11239457,11146653,11115400,11092945,11075956,11062072,11038365,11034995,11004567,10994779,10993892,10984616,10970045,10961987,10951572,10942766,10938077,10884347,10852916,10844023,10806407,10806215,10772927,10764593,10760275,10753899,10747897,10737800,10671552,10667577,10650937,10618498,10617630,10580090,10559254,10523317,20671611,20719947,18710613,20526659,20664522,20625391,12361709,12972610,16085715,16129408,16322471,16325853,16331323,16977309,17088250,17309103,17382325,17827154,1828073,19011756,19361447,19398558,19542537,19556345,19596613,19615732,19616514,19723109,19726289,19839995,19855935,19904978,19923321,19933278,19941816,20026644,20157113,20508983,8635594,9405642,20545769 1457 NM_177560,NM_001895,NM_177559,NG_011970,AF011920,AL049761,CH471133,X69951,AB451279,AB451411,AK302583,AK312535,AU130091,AU131227,AU132198,AU133318,AW876962,AY735339,BC011668,BC050036,BC053532,BC071167,BT019792,DQ354583,J02853,M55265,S53149,BC002615 NP_808228,NP_001886,NP_808227,CAB65624,EAX10665,EAX10666,EAX10667,EAX10668,EAX10669,BAG70093,BAG70225,BAG63838,BAG35434,AAH11668,AAH50036,AAH53532,AAH71167,AAV38595,ABC86794,AAA56821,AAA35503,ABB72474,P68400,Q2I0Y7,Q5U5J2,Q8NEV1,ABM84028,ABM87373 Hs.644056 CK2A1|CKII CK II alpha|CK2 catalytic subunit alpha|casein kinase II alpha 1 subunit|casein kinase II subunit alpha|casein kinase ii, alpha 1 polypeptide|protein kinase CK2 protein-coding 1346188 CSNK2A1P casein kinase 2, alpha 1 polypeptide pseudogene 20625391,2752008,2174700,1766873,1610905,1577469,15684395,15489334,14646071,12860116,12393879,12102635,11780052,11239457,11181995,11092945,8420794,7942276 283106 NR_002207,AC023946,CH471064,X64692,X70251,AY112721,CR590205 EAW68546,CAA49758 Hs.654675 pseudo 1315751 CSNK2A2 casein kinase 2, alpha prime polypeptide 1580863 11972058,19130553,19011756,17903308,16335532,15761153,15635413,15489334,15345747,15302935,11827177,11827172,11827170,11827166,11742978,11713579,11711551,11602581,11583622,11557039,11535139,11500362,11378439,11278496,11239457,11146653,11062072,11034995,11004567,10994779,10993892,10984616,10982400,10970045,10961987,10938077,10852916,10844023,10806215,10772927,10764593,10760275,10747897,10671552,10618498,10617630,10559254,10471512,10066810,9930733,9858576,9806882,9722526,9685505,9654140,9600099,9571630,9525959,9461343,9407077,9185604,9151826,9092824,9074495,9045708,8954982,8806671,8663403,8663267,8663258,8659106,8639568,8622969,8592152,8548340,8547318,8491187,8404858,8288648,8253806,8206911,8188223,8139011,8107101,8089108,8058322,7983041,7896000,7794926,7794916,7735329,7689229,7678037,7651819,7491787,3128543,2998765,2900140,2874131,14729942,14702039,14685260,14667819,12930845,12860119,12769847,12591939,12588975,12568341,12564933,12558502,12511551,12477932,12466282,12450396,12432063,12393879,12297295,12145206,12107178,12082111,12037680,11940573,11877451,15218032,2663470,2557337,2806554,2174700,1985907,1766873,1740119,1541298,1520270,1516134,1425701,10964683,10667577,11997511,10799509,9188720,17353931,7768894,19913121,20628086,15367657,17643375,19615732,20379614 1459 NM_001896,AC009107,CH471092,AI150700,AK090752,AK125922,BC008812,CR597978,M55268 NP_001887,EAW82969,AAH08812,AAA51548,P19784,ABM83951,ABM87268 Hs.82201 CK2A2|CSNK2A1|FLJ43934 CK II alpha'|casein kinase II subunit alpha' protein-coding 1347139 CSNK2B casein kinase 2, beta polypeptide This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. [provided by RefSeq] 19913121,20628086,10549165,10491318,10403822,10327653,10214938,10094400,9738462,9654140,9571630,9503014,9478999,9299532,9188720,9185604,9151826,9092824,9042965,9013635,8943850,8812450,8806671,8806611,8659106,21068236,10094392,11984006,2666134,1856204,2513884,19091862,19056846,18835879,18824508,18587631,18583988,18560763,18553059,18469858,18451726,17912454,17681943,17092945,17081983,17038328,16895915,16806200,16713569,16225457,15940255,15489334,15485924,15225637,15218032,14667819,14656967,14645218,14634006,14574404,12954211,12902976,12901717,12804768,12748192,12591939,12527891,12511551,12477932,12470599,12432063,12393879,12220519,12145206,12102635,12037680,11972058,11940573,11883897,11861906,11827178,11827177,11827176,11827174,11827171,11827168,11827167,11827166,11713579,11710515,11709713,11583622,11546811,11535139,11485312,11396975,11378439,11298324,11239457,11092945,11062072,10984616,10951572,10931861,10764587,10747897,10679299,19851886,8548340,8349691,8139011,8107101,8089108,7942276,7838153,7794916,7689229,7578274,7491787,2300566,2276748,1939094,1694965,1541298,10944435,10641798,10549869,9881639,10964683,10799509,9685505,10381337,17353931,15893730,11574463,7768894,10506147,17643375,18276110,18508765,19011756,19233263,19324893,19542537,19592636,19615732,19759161,19851445,20044958,20372791,20576813 1460 AF129756,AL662899,AL670886,AL805934,BA000025,BX511262,CH471081,CR354443,CR753842,CR759761,DQ314868,X57152,AK300671,AK308742,AK310551,AK311860,AY113186,NM_001320,BC112017,BC112019,CR541699,CR592250,CR599194,CR605823,CR612451,CR614763,CR620110,CR625128,X16312,X16937 NP_001311,AAD18081,CAI18393,CAI96141,CAI17798,CAI17800,CAI18521,CAI18523,BAB63386,CAM45825,EAX03472,EAX03473,EAX03474,EAX03475,CAQ07001,CAQ07002,CAQ06572,CAQ10879,ABC40727,CAA40442,BAG62356,BAG34801,AAM50092,AAI12018,AAI12020,CAG46500,CAA34379,CAA34811,P67870,Q5SRQ6 Hs.73527 CK2B|CK2N|CSK2B|G5A|MGC138222|MGC138224 CK II beta|Casein kinase II beta subunit|OTTHUMP00000060100|alternative name: G5a, phosvitin|casein kinase II subunit beta|phosvitin|protein G5a protein-coding 730838 CSPG4 chondroitin sulfate proteoglycan 4 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq] 734840 10587647,8790396,19204726,18829565,18767415,18634019,18519770,18469852,18292781,17851550,17592550,17591920,17268261,16625365,16455987,16407841,16365873,16335952,16253523,16169245,15504744,15342556,15231748,15210734,15181153,15009727,14573520,12477932,12220645,11278606,10967549,9488735,9013976,12458226,20805128,20455858,20448346,19462316,19604403,19776755,20379614 734840 1464 NM_001897,AC105020,CH471136,AY359468,BC033194,BC128110,BP363063,BQ679485,CA428796,CA438367,CB044012,X96753 NP_001888,EAW99239,EAW99240,AAQ62842,AAI28111,CAA65529,Q6UVK1,AAI72270,AAI72576 Hs.513044 HMW-MAA|MCSP|MCSPG|MEL-CSPG|MSK16|NG2 chondroitin sulfate proteoglycan 4|chondroitin sulfate proteoglycan 4 (melanoma-associated)|chondroitin sulfate proteoglycan NG2|melanoma chondroitin sulfate proteoglycan|melanoma-associated chondroitin sulfate proteoglycan protein-coding 1351467 CSPG4LYP1 chondroitin sulfate proteoglycan 4-like, Y-linked pseudogene 1 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq] 12815422 114758 NR_001554,NG_004755,AC006328,AF332228 Q96RM9 Hs.514045 CSPG4LY|CSPG4LYP1|CSPG4P1|CSPG4PY1 chondroitin sulfate proteoglycan 4-like, y-linked pseudo 1606764 CSPG4LYP2 chondroitin sulfate proteoglycan 4-like, Y-linked pseudogene 2 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq] 12815422 84664 NR_002194,NG_004755,AC023274 CSPG4LYP2|CSPG4P2|CSPG4PY2 pseudo 3207432 CSPG4P3Y chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked 100287261 AC023274,NG_022958 CSPG4P3 pseudo 3129515 CSPG4P4Y chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked 100287502 AC006328,NG_022953 CSPG4P4|CSPG4P7Y pseudo 4105744 CSPG4P6Y chondroitin sulfate proteoglycan 4 pseudogene 6, Y-linked 100287758 AC023274,XM_002344203 XP_002344244 chondroitin sulfate proteoglycan 4 pseudogene 6, Y-linked protein-coding 4105740 CSPG4P7Y chondroitin sulfate proteoglycan 4 pseudogene 7, Y-linked 100287819 AC006328,XM_002344204 XP_002344245 chondroitin sulfate proteoglycan 4 pseudogene 7, Y-linked protein-coding 733098 CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) 1580863 12885772,9950058,19367581,16901907,16299773,15358134,12477932,11076863,8889548 10675 AC099778,AC112512,CH471055,NM_006574,AF059274,AF461087,AF461088,AF461089,AI368601,AI989800,AK294621,AW003890,BC041406,BM674119,BU732090,DB636494 NP_006565,EAW64829,EAW64830,AAC69612,AAQ04774,AAQ04775,AAQ04776,BAH11826,O95196,AAI11584 Hs.45127 MGC44034|NGC OTTHUMP00000210429|acidic leucine-rich EGF-like domain-containing brain protein|chondroitin sulfate proteoglycan 5|neuroglycan C protein-coding 1605630 CSPP1 centrosome and spindle pole associated protein 1 CSPP1 interacts with centrosomes and microtubules and plays a role in cell-cycle progression and spindle organization (Patzke et al., 2005 [PubMed 15580290]; Patzke et al., 2006 [PubMed 16826565]).[supplied by OMIM] 16826565,16344560,15580290,14702039,12477932,20519441,19129481 79848 NM_024790,AC087359,AC109335,CH471068,AJ583433,AK026143,AK096205,AK127108,AK308372,AM156947,BC022867,BC029445,BX649147,DA245734,CA447290 NP_079066,EAW86932,EAW86933,EAW86934,CAE47426,BAB15375,CAJ42307,AAH22867,Q1MSJ5,Q9H688,AAI48418,AAI52994 Hs.370147 CSPP|FLJ22490|FLJ38886 centrosome and spindle pole-associated protein 1|centrosome spindle pole associated protein protein-coding 1314362 CSRNP1 cysteine-serine-rich nuclear protein 1 This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. [provided by RefSeq] 1580863 17726538,11526492,15489334,12477932 64651 NM_033027,AC092053,CH471055,AB053121,AB063301,AL117565,BC028213,BC038949,BG536908,CR590589 NP_149016,EAW64565,EAW64566,EAW64567,EAW64568,EAW64569,EAW64570,BAB61065,BAB79450,CAH10719,AAH28213,AAH38949,Q8N6U0,Q96S65 Hs.370950 AXUD1|CSRNP-1|DKFZp566F164|FAM130B|TAIP-3|URAX1 AXIN1 up-regulated 1|OTTHUMP00000208991|TGF-beta induced apoptosis protein 3|TGF-beta-induced apoptosis protein 3|axin-1 up-regulated gene 1 protein|cysteine/serine-rich nuclear protein 1 protein-coding 1318958 CSRNP2 cysteine-serine-rich nuclear protein 2 17726538,15489334,15231748,12477932,9110174,8619474,20800603 81566 NM_030809,AC087884,CH471111,AB063302,AF052105,AJ298133,AK098442,AK313080,BC017221,CR598042 NP_110436,EAW58173,BAB79451,CAC22252,BAG35906,AAH17221,Q9H175 Hs.524425 C12orf2|C12orf22|FAM130A1|FLJ25576|TAIP-12 CSRNP-2|TGF-beta-induced apoptosis protein 12|chromosome 12 open reading frame 22|cysteine/serine-rich nuclear protein 2|family with sequence similarity 130, member A1 protein-coding 1605039 CSRNP3 cysteine-serine-rich nuclear protein 3 17726538,19401682,15815621,14702039,16344560,18029348,20468071 80034 NM_024969,AC019140,CH471058,AB063300,AK021765,AK056655,AK126129,AK055302,AK096497,AL049256,CR626066,AC108031,DA500249,NM_001172173 NP_079245,AAY24139,EAX11326,BAB79449,BAB13890,BAG51776,BAC86454,Q8WYN3,NP_001165644 Hs.470479 FAM130A2|FLJ11703|FLJ32093|FLJ44141|TAIP-2|TAIP2 CSRNP-3|OTTHUMP00000204920|OTTHUMP00000204921|OTTHUMP00000204922|TGF beta induced apotosis protein 2|TGF-beta induced apoptosis protein 2|TGF-beta-induced apoptosis protein 2|cysteine/serine-rich nuclear protein 3|family with sequence similarity 130, member A2 protein-coding 737489 CSRP1 cysteine and glycine-rich protein 1 This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. [provided by RefSeq] 1580863 20415737,1374386,17486081,17341888,17081983,16964243,16344560,15489334,14702039,12539241,12477932,11790298,10926853,9925910,9507743,7938009,2115670,1385304,20029029,20379614 1465 NM_001193570,NM_001193571,NM_001193572,AC096677,CH471067,M76378,AB209756,AK057876,AK122812,AK126445,AK126507,AK131508,AK290133,AK293053,AK302237,AK304415,AW163500,BC004265,BC007492,BC018806,BC032493,BT019520,BX537488,BX641046,CA411857,NM_004078,CF453919,CR592909,CR593715,CR593927,CR595754,CR596845,CR598103,CR601068,CR603852,CR606741,CR606958,CR610287,CR613321,CR613755,CR613760,CR614180,CR615193,CR615597,CR616700,CR619913,CR621634,CR622848,CR623326,CR624405,CR624463,CR625414,CR625797,CR627407,DA163062,DA930181,DB019080,M33146 NP_001180499,NP_001180500,NP_001180501,NP_004069,EAW91370,EAW91371,AAA58431,BAD92993,BAG53741,BAD18652,BAF82822,BAF85742,BAG63590,BAG65246,AAH04265,AAH32493,AAV38327,CAH10559,CAH10496,AAA35720,P21291,Q59EQ5,Q5U0J2,Q6AI18,Q6AWD1,Q6ZMS3,Q9BTA4 Hs.108080 CRP|CRP1|CSRP|CYRP|D1S181E|DKFZp686M148 LIM-domain protein|OTTHUMP00000033921|cysteine and glycine-rich protein 1|cysteine-rich protein 1 protein-coding 1352848 CSRP2 cysteine and glycine-rich protein 2 CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. [provided by RefSeq] 1580863 15489334,12861049,12496489,12477932,11672422,10924333,9286703,8824798,8626582,7499425 1466 NM_001321,AC124784,CH471054,U95018,AY349166,BC000992,BT019913,CR598239,CR611980,U46006,U57646 NP_001312,EAW97336,EAW97337,AAC51755,AAH00992,AAV38716,AAC27344,AAC51753,Q16527,ABM81901,ABM85075 Hs.530904 CRP2|LMO5|SmLIM LIM domain only 5, smooth muscle|LIM domain only protein 5|LMO-5|cysteine and glycine-rich protein 2|cysteine-rich protein 2|smooth muscle cell LIM protein protein-coding 1319928 CSRP2BP CSRP2 binding protein CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 14702039,12975309,12477932,11780052,10924333,19060904,16189514,15489334,19103755,18838386,21079607,16344560 57325 NR_028402,AL050321,CH471133,AF086492,AF252257,AK023634,AK023759,AK297597,BC007537,BC009174,BM552422,CA443252,NM_020536,AI199208,AU140233,BQ691686 NP_065397,CAB56651,EAX10254,EAX10255,EAX10256,AAG10249,BAB14669,BAG59982,AAH07537,AAH09174,Q9H8E8,ABM84436,ABM87506,CAM28294 Hs.488051 ATAC2|CRP2BP|KAT14|MGC15388|PRO1194|dJ717M23.1 ADA2A-containing complex subunit 2|ATAC component 2 homolog|ATAC2|CRP2 binding partner|CRP2 binding protein|CRP2-binding partner|CSRP2-binding protein|OTTHUMP00000162798|OTTHUMP00000221577|cysteine rich protein 2 binding protein|cysteine-rich protein 2-binding protein protein-coding 1342895 CSRP2P cysteine and glycine-rich protein 2 pseudogene 9286703,8361751,7499425 1467 NG_000852,AC073352,U72535 pseudo 733068 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq] 1580863,1598499,734841,1598503,704404 12507422,12477932,11113014,10751147,9234731,8782062,7499425,7490106,12127981,7954791,19412328,19293840,19230835,19035361,18513529,18505755,18393774,18331358,17519359,15489334,12878195,12642359,19913121,20628086,19351738,19636821,19752190,19875404,20201937,20474083 1598499,734841,1598503 8048 NM_003476,NM_001127656,NG_011932,AC009652,CH471064,EF179182,U72898,AF121260,AI184002,AJ711422,AK313289,BC005900,BC024010,BC057221,BF671742,U20324,U49837,U72899 NP_003467,NP_001121128,EAW68355,EAW68356,ABN05285,AAD00189,AAF28868,BAG36097,AAH05900,AAH24010,AAH57221,AAA91104,AAA92571,AAD00183,P50461,ABM84051,ABM87401 Hs.83577 CLP|CMD1M|CMH12|CRP3|LMO4|MGC14488|MGC61993|MLP LIM domain only 4|LIM domain protein, cardiac|cardiac LIM domain protein|cysteine and glycine-rich protein 3|cysteine-rich protein 3|muscle LIM protein protein-coding 1352376 CST1 cystatin SN The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq] 1580863 1471486,3446578,19343046,15829315,15489334,15340161,12477932,11879580,11788998,11780052,9007972,8708950,8179826,7896273,7690606,3514272,3202964,2837486,1898352,1778989,19463800,19513549,19587831 1469 NM_001898,NG_000839,AL591074,CH471133,M19169,BC021225,J03870 NP_001889,CAC94783,EAX10134,AAA36115,AAH21225,AAA60299,P01037 Hs.123114 OTTHUMP00000164184|cystain-SA-I|cystatin 1|cystatin SA-I|cystatin-1|cystatin-SN|cysteine proteinase inhibitor, type 2 family|salivary cystatin-SA-1 protein-coding 1352205 CST10 cystatin 10 (chondrocytes) 79553 AB036743 735574 CST11 cystatin 11 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein whose specific function has not been determined. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq] 1580863 15489334,12477932,12072414,11780052,9007972,8179826,7896273,7690606,3202964 140880 NG_000839,AL096677,CH471133,AF335480,AF335481,BC121079,BC121080,NM_080830,NM_130794 CAI20158,CAI20159,EAX10146,EAX10147,AAL71991,AAL71992,AAI21080,AAI21081,Q9H112,NP_570612,NP_543020 Hs.128100 CST8L|SC13|dJ322G13.6 SC13delta|cystatin-11|cystatin-related epididymal-specific protein protein-coding 1354411 CST2 cystatin SA The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq] 1580863 3446578,15829315,15489334,15340161,15274116,12477932,12413693,12013824,11879580,11780052,11276250,9007972,8179826,7896273,7690606,6662498,6365094,6283552,3495457,3436950,3202964,2764935,2541223,2363674,1898352,1778989,1471486,1352269,19851296,20198315,17207965 1470 NM_001322,NG_000839,AF319564,AL591074,CH471133,M19671,M19672,M19673,BC062679 NP_001313,AAK11570,CAC94784,EAX10133,AAA36116,AAH62679,P09228,ADQ32080 Hs.669305 MGC71924 cystatin 2|cystatin S5|cystatin-2|cystatin-S5|cystatin-SA|cysteine-proteinase inhibitor|salivary cysteine (thiol) protease inhibitor protein-coding 736914 CST3 cystatin C The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. [provided by RefSeq] 2314295,2314304,2314305,2314309,2314320,2314328,2314332,2314333,2314352,2301196,2314350,2314311,2314346,2314308,2314349,2314354,2314297,1580863 20482807,20802417,20447660,20538834,20692472,20699092,20576828,18418694,18408364,18376131,18373213,18356552,18319326,18317874,18314113,18307033,18280806,18216060,18187137,18089366,18044340,18026100,17998865,17963746,17947596,17903292,17901710,17852801,17852800,17826782,17822797,17728092,17718592,17668246,17660266,17636214,17552057,17537416,17470433,17394021,17353786,17310123,17210589,17192785,17130480,16979980,16838182,16713569,16640527,16612983,16612982,16608402,16481598,16446102,16443201,16437581,16386559,16213753,16188386,16170782,16131730,16049933,16005452,15882666,15860739,15832773,15829557,15728313,15719405,15603510,15489334,15479453,15350470,15340161,15336605,15223845,15212828,15122877,15086483,15037657,15034766,15013312,14726415,14714581,14672279,12938144,12787072,12758063,12738401,12670666,12663624,12589965,12483523,12479412,12477932,12101112,12038606,11865157,11815350,11780052,11750287,11711204,11681790,11468325,11276250,11115496,11074789,10993992,10428479,8486384,8179826,6662498,6365094,6283552,3517880,3495457,2900981,2764935,2689007,2567273,2541223,2363674,2304899,2013314,1996959,1731767,1352269,14503883,18026102,6203523,7890620,10545518,18613859,19597297,19394726,19359536,19357259,19293566,19252175,19151417,19119287,18953178,18949742,18830724,18824671,18815241,18804033,18713542,18703370,18674527,18667743,18594189,18566660,18511756,18508448,18496846,18461289,18454664,20502295,19137579,19403428,19419268,19436062,19446036,19517296,19523634,19585181,19597298,19601795,19636441,19674067,19741512,19765773,19774637,19808324,19816197,19819453,19861863,19915865,19920316,19929276,19938052,20052346,20132026,20157249,20175878,20353367,20413850,20468060,20534741,8083219,20806899,20849835,20880607,20921817,20399428,20489688,20926009,20450259,20383146 2314295,2314304,2314305,2314309,2314320,2314328,2314332,2314333,2314352,2301196,2314350,2314311,2314346,2314308,2314349,2314354,2314297 1471 HB867228,NG_000839,AL121894,CH471133,CS208043,M27891,X52255,X61681,X61682,AK312213,BC013083,BC110305,BT006839,BX647523,CR541988,CR542018,CR590218,CR601605,CR606174,CR612887,CR622151,X05607,NM_000099,NG_012887 CBF57600,NP_000090,CAC05424,EAX10137,EAX10138,CAJ44947,AAA52164,CAA36497,CAA43856,BAG35146,AAH13083,AAI10306,AAP35485,CAG46785,CAG46815,CAA29096,P01034,ABM82365,ABW03385 Hs.304682 ARMD11|MGC117328 OTTHUMP00000164181|OTTHUMP00000164182|bA218C14.4 (cystatin C)|cystatin 3|cystatin C (amyloid angiopathy and cerebral hemorrhage)|cystatin c|cystatin-3|cystatin-C|gamma-trace|neuroendocrine basic polypeptide|post-gamma-globulin protein-coding 1345836 CST4 cystatin S The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq] 1580863 15489334,12477932,11879580,11780052,10483070,9007972,8636877,8179826,7896273,7690606,6501254,6394600,3496880,3202964,1939105,1898352,1898055,1801729,1778989,1747107,1741693,1471486,1334620,17207965,20383146 1472 NM_001899,NG_000839,AF319565,AL359433,CH471133,S51222,BC065714,BC074952,BC074953,X54667 NP_001890,AAK11571,CAC07196,EAX10135,AAB24493,AAH65714,AAH74952,AAH74953,CAA38478,P01036,ADQ32068 Hs.654549 MGC71923 cystatin 4|cystatin-4|cystatin-S|cystatin-SA-III|salivary acidic protein 1 protein-coding 1322184 CST5 cystatin D The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq] 1580863 8083219,19662683,18615156,15728581,15489334,12477932,11879580,11780052,9007972,8444475,8422752,8340398,8179826,7896273,7690606,3202964,1939105,20223287,20379614,17207965 1473 NM_001900,NG_000839,AL591074,CH471133,X59964,BC062678,BC069514,CB985957,X70377 NP_001891,CAI23644,EAX10132,CAA42590,AAH62678,AAH69514,CAA49838,P28325,ADQ31945 Hs.121489 MGC71922 cystatin 5|cystatin-5|cystatin-D|cysteine-proteinase inhibitor protein-coding 1352727 CST6 cystatin E/M The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq] 1580863 3202964,2029847,20074384,8995380,9099741,19074894,19005484,18754876,18676742,18607344,18506750,17540367,17099723,17043665,16912163,16565075,16356477,15489334,15466187,14676833,12839564,12477932,11348457,9154125,9007972,8179826,19262604,19503093,19551853 1474 CS501266,NM_001323,AP006287,AY145051,CH471076,AI127639,BC031334,CR456872,U62800,U81233 CAM83949,NP_001314,AAN52757,EAW74487,AAH31334,CAG33153,AAB06566,AAB61305,Q15828,Q6IBD2 Hs.139389 cystatin 6|cystatin M|cystatin M/E|cystatin-6|cystatin-E|cystatin-M|cysteine proteinase inhibitor protein-coding 1342542 CST7 cystatin F (leukocystatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq] 1580863 9733783,9632704,19192250,18256700,16601115,15752368,15489334,15212960,12477932,12423348,11780052,11079561,10945474,9892200,9007972,8179826,3202964,17207965 8530 CA449286,CR611499,AB029636,AJ510167,AL035661,CH471133,AB015225,AF031824,AF036342,BC015507,BG547285,BT009825,CR541860,CR541878,NM_003650 CAG46676,O76096,ADQ32788,NP_003641,BAB11886,CAD52872,CAB75498,EAX10116,BAA34941,AAC39788,AAC35747,AAH15507,AAP88827,CAG46658 Hs.143212 CMAP OTTHUMP00000030465|cystatin-7|cystatin-F|cystatin-like metastasis-associated protein|leukocystatin protein-coding 736077 CST8 cystatin 8 (cystatin-related epididymal specific) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing identified in mouse is suggested in human based on EST evidence but the full-length nature of putative variants has not been determined. 1580863 17207965,16740002,15489334,12477932,12193387,11780052,10229662,9007972,8179826,7896273,7690606,3202964,19204726,20565543 10047 HC006890,HC044551,NM_005492,NG_000839,AL109954,CH471133,AF059244,AW665128,BC069496,BC069536,BC105113,BC105119 CAM28236,CBH19250,CBH30605,ADQ32901,NP_005483,CAB64234,EAX10144,AAC14707,AAH69496,AAI05114,AAI05120,O60676 Hs.121602 CRES OTTHUMP00000164183|cystatin 8|cystatin-8|cystatin-related epididymal spermatogenic protein|cystatin-related epididymal-specific protein-coding 1606729 CST9 cystatin 9 (testatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq] 17903292,15060002,12535658,12477932,20383146 128822 NM_001008693,NG_000839,AL121894,CH471133,AF494536,BC137302,BC137303 NP_001008693,CAH71437,EAX10139,AAM18055,AAI37303,AAI37304,Q5W186 Hs.698020 CLM cystatin-9|cystatin-like molecule protein-coding 1322270 CST9L cystatin 9-like The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq] 17903292,15489334,15340161,12975309,12644294,12477932,11780052,11756564,9007972,8179826,7896273,7690606,3202964,20565543 128821 HC006892,HC044795,NM_080610,NG_000839,AL121894,CH471133,AK312112,AY358615,BC029656 Q9H4G1,ABM84612,ABM87516,ABM87517,CBH19251,CBH30727,AAH29656,NP_542177,CAC05421,EAX10140,BAG35048,AAQ88978 Hs.121554 FLJ92394|bA218C14.1 cystatin-9-like|testatin protein-coding 1320029 CSTA cystatin A (stefin A) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq] 1580863 6203523,10908733,18029348,18364739,17985332,17441792,17412564,16969475,16342276,15489334,15175029,15048832,14747998,14503883,12921779,12682854,12581647,12477932,11532941,11451947,11329013,10353845,9769367,9651321,9585570,9522124,9219725,9007972,8999895,7869384,7578072,7541394,6689312,6429090,3122506,3067731,2768224,2424340,2004763,1940442,1286667,107703,107702,16169070,19615732,19933866,20461718,21038029,20558539,20705733 1475 NM_005213,AB007774,AC083798,CH471052,CS185576,D88422,AK291308,AV716538,AV717631,BC010379,BG213814,CR456914,X05978,NG_027995 NP_005204,BAA87858,EAW79489,CAJ42757,BAA13609,BAF83997,AAH10379,CAG33195,CAA29398,P01040,Q6IB90,AAA72785 Hs.518198 STF1|STFA cystatin AS|cystatin-A|cystatin-AS|stefin A|stefin-A protein-coding 735434 CSTB cystatin B (stefin B) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). [provided by RefSeq] 704404,1580863 1996959,6203523,17353931,18951626,18636508,18397316,18281540,17920138,17701471,17003839,16969475,16939620,16342276,16321512,16205844,15955063,15832773,15489334,15483648,15048832,12573263,12477932,12452481,12215838,11697735,11697734,11571333,11514663,11139332,10830953,10721698,9769367,9342192,9090386,9054946,9012407,9007972,8938434,8596935,8104628,8014475,3902020,3261170,3122506,3053245,2347312,1855589,14503883,19913121,20628086,18029348,19342095,19955183,20075068,20078424 1476 NM_000100,NG_011545,AB083085,AF208234,AP001053,AP001752,CH471079,U46692,AK312133,BC003370,BC010532,BT007040,CR542148,CR591371,L03558 NP_000091,BAC20304,AAF44059,BAA95541,EAX09473,EAX09474,AAA99014,BAG35069,AAH03370,AAH10532,AAP35689,CAG46945,AAA35727,P04080,Q76LA1,ABM81849,ABM84999 Hs.695 CST6|EPM1|PME|STFB CPI-B|cystatin b|cystatin-B|liver thiol proteinase inhibitor|stefin B|stefin-B protein-coding 1319516 CSTF1 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq] 1580863 15878232,15592455,15489334,12477932,11790298,11780052,11459828,11257228,10669729,8626397,7984242,7590244,1741396,10477523,1358884,12226669,19124506,18842000,18676680,11278247,19170196,19615732,19625176,19692168,20379614 1477 NM_001033521,NM_001324,NM_001033522,AL121914,CH471077,AA037145,AK293182,AK312774,BC001011,BC007425,BE958524,BI547689,BT007138,BU189431,BU189971,BU934383,CF272312,CR592720,CR594364,CR602493,CR616080,CR625288,L02547 NP_001028693,NP_001315,NP_001028694,CAC12718,CAI19328,EAW75548,EAW75549,BAG56724,BAG35638,AAH01011,AAH07425,AAP35802,AAA35691,Q05048,Q5QPD8,ABM83633,ABM83643,ABM86885 Hs.172865 CstF-50|CstFp50 CF-1 50 kDa subunit|CSTF 50 kDa subunit|OTTHUMP00000031333|OTTHUMP00000031334|cleavage stimulation factor 50 kDa subunit|cleavage stimulation factor subunit 1 protein-coding 1351144 CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq] 1580863 17135252,1741396,10477523,11389848,12226669,18029348,19284619,18272196,16713569,16189514,16169070,15772651,15769465,15489334,14749727,14707147,14702039,12773396,12477932,11598190,11113135,10669729,9885564,9736695,9199325,8945520,8654386,8626397,7984242,7590244,1358884,11257228,16207706,18688255,19887456,18305108 1478 CR598613,CR603621,CR614161,CR617742,EU616679,M85085,CR594312,CH471115,Z83819,Z95327,AK095684,AK300600,AW016125,NM_001325,BC017712,BC033135,BT009778,CR593825,NG_015848 ACF05699,AAA35724,P33240,ABM82458,ABM85647,NP_001316,EAX02818,EAX02819,CAB06072,CAI42680,CAI42681,BAG62297,AAH17712,AAH33135,AAP88780 Hs.132370 CstF-64 CF-1 64 kDa subunit|CSTF 64 kDa subunit|betaCstF-64 variant 2|cleavage stimulation factor 64 kDa subunit|cleavage stimulation factor subunit 2 protein-coding 1320690 CSTF2T cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 11256614,16713569,15767428,15489334,15302935,12773396,12477932,12408968,16189514,11230166,11113135,9734811,9373149,8889548,8125298,16385451,19779565 23283 NM_015235,AC068062,CH471083,AB014589,AK222574,AK314318,AL136747,AY130299,BC017185,BC028239,BI962669,BU743103,BX455090 NP_056050,EAW54142,BAA31664,BAD96294,BAG36966,CAB66681,AAN05429,AAH28239,Q9H0L4 Hs.591358 CstF-64T|DKFZp434C1013|KIAA0689 CF-1 64 kDa subunit tau|CSTF 64 kDa subunit tau|cleavage stimulation factor 64 kDa subunit tau|cleavage stimulation factor subunit 2 tau|cleavage stimulation factor subunit 2 tau variant|tauCstF-64 protein-coding 1314208 CSTF3 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 1741396,17353931,7984242,12226669,17081983,16554811,15489334,14749727,12477932,12149458,10669729,7590244,1358884,15782160,11172707,19887456,17207965 1479 NM_001033506,NM_001033505,AC131263,AL121926,CH471064,AK290836,AK294204,AK297371,BC009792,NM_001326,BC010533,BC059948,BC108319,BG435786,CR608356,U15782 NP_001317,NP_001028678,NP_001028677,CAC48252,EAW68200,EAW68201,EAW68202,EAW68203,BAF83525,BAG57516,BAG59816,AAH09792,AAH10533,AAH59948,AAI08320,AAA61417,Q12996,Q96QK4,ADQ32369 Hs.44402 CSTF-77|MGC117398|MGC43001|MGC75122 CF-1 77 kDa subunit|CSTF 77 kDa subunit|cleavage stimulation factor 77 kDa subunit|cleavage stimulation factor subunit 3|cleavage stimulation factor subunit 3, isoform 1 protein-coding 1316602 CSTL1 cystatin-like 1 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq] 1580863 15489334,12477932,11780052,9007972,8179826,7896273,7690606,3202964,20565543 128817 NM_138283,NG_000839,AL096677,CH471133,AY707749,BC117396,BC144010,BC144013,BI560738,FJ895879,FJ895880 NP_612140,CAI20157,EAX10148,EAX10149,AAU20813,AAI17397,Q9H114,ADR82827 Hs.352134 CTES1|RCET11|dJ322G13.4 OTTHUMP00000030428|cystatin-like 1 protein-coding 1345230 CSTP1 cystatin pseudogene 1 11879580,1334620,3446578,7896273,8179826,12499242 1480 NG_001020,AL121831 dJ850N15.1 pseudo 1353811 CSTP2 cystatin pseudogene 2 8179826,11879580,1334620,7896273 1481 NG_000839,AF319563,AL591074 pseudo 1605157 CT45A1 cancer/testis antigen family 45, member A1 19296537,15905330,12477932,20133697 541466 NM_001017417,BX537333,AY743709,BC140913 NP_001017417,CAI43223,AAW66464,AAI40914,Q5HYN5 Hs.460937 CT45|CT45-1|CT45.1 XX-FW88277B6.1|cancer/testis antigen 45-1|cancer/testis antigen 45A1|cancer/testis antigen CT45-1|cancer/testis antigen family 45 member A1 protein-coding 1625091 CT45A2 cancer/testis antigen family 45, member A2 15905330,12477932 728911 AL590618,AY743710,NM_152582,BQ020473,NG_021269 NP_689795,CAI41545,AAW66465,Q5DJT8 Hs.632281,Hs.535081 CT45-2|CT45.2 OTTHUMP00000221762|OTTHUMP00000221763|cancer/testis antigen 45-2|cancer/testis antigen 45A2|cancer/testis antigen CT45|cancer/testis antigen family 45 member A2 protein-coding 1604675 CT45A3 cancer/testis antigen family 45, member A3 17207965,15905330,12477932,16341674 441519 NM_001017435,AL590618,CH471107,AY743711,BC028711,BC140735,BC140926,BC144437 ADQ32802,NP_001017435,CAI41546,EAX11718,EAX11719,AAW66466,AAH28711,AAI40736,AAI40927,AAI44438,Q8NHU0 Hs.535080 CT45-3|CT45.3|RP13-36C9.1|RP13-36C9.3 OTTHUMP00000024083|OTTHUMP00000221760|OTTHUMP00000221761|cancer/testis antigen 45-3|cancer/testis antigen 45A3|cancer/testis antigen CT45-3|cancer/testis antigen family 45 member A3 protein-coding 1604674 CT45A4 cancer/testis antigen family 45, member A4 15905330 441520 NM_001017436,AL590618,AK098689,AY743712 NP_001017436,CAI41549,BAC05380,AAW66467,Q8N7B7,AAI48517,AAI53114 Hs.568346,Hs.632281 CT45-4|CT45.4|CT45A6 OTTHUMP00000219438|OTTHUMP00000219439|cancer/testis antigen 45-4/6|cancer/testis antigen 45A4/45A6|cancer/testis antigen CT45-4|cancer/testis antigen family 45 member A4/A6 protein-coding 1604673 CT45A5 cancer/testis antigen family 45, member A5 15905330,12477932,17207965 441521 NM_001007551,AL590618,CH471150,AK292207,AY743713,BC070138,BC144429,BC144430,BC144527,BC144528,NG_016551,NM_001172288 NP_001007552,CAI41550,EAW88487,BAF84896,AAW66468,AAH70138,AAI44430,AAI44431,AAI44528,AAI44529,Q6NSH3,ADQ32006,NP_001165759 Hs.535081 CT45-5|CT45.5|CT455|RP13-36C9.6 OTTHUMP00000219440|OTTHUMP00000219441|cancer/testis antigen 45-5|cancer/testis antigen 45A5|cancer/testis antigen CT45-5|cancer/testis antigen family 45 member A5 protein-coding 1605158 CT45A6 cancer/testis antigen family 45, member A6 15905330,14702039,15772651 541465 NM_001017438,AL590618,AY743714 NP_001017438,CAI41551,AAW66469,AAI56862,Q8N7B7 Hs.676560 CT45-6|CT45.6|CT45A4 OTTHUMP00000221764|OTTHUMP00000221765|cancer/testis antigen 45-4/6|cancer/testis antigen 45A4/45A6|cancer/testis antigen CT45-6|cancer/testis antigen family 45 member A4/A6|cancer/testis antigen family 45, member A6 protein-coding 2859131 CT45B1P cancer/testis antigen family 45, member B1 pseudogene 15905330 100337646 AC008417,NG_016473 pseudo 2306137 CT47A1 cancer/testis antigen family 47, member A1 16382448 728096 NG_027743,NM_001080146,AL670379 NP_001073615,CAI42067,Q5JQC4 Hs.673190 CT47.1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A3|CT47A4|CT47A5|CT47A6|CT47A7|CT47A8|CT47A9 CT47|OTTHUMP00000023957|cancer/testis CT47 family, member 1|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306145 CT47A10 cancer/testis antigen family 47, member A10 16382448 728036 NM_001080137,AL670379 NP_001073606,CAI42058,Q5JQC4 Hs.673190 CT47|CT47.10|CT47A1|CT47A11|CT47A12|CT47A2|CT47A3|CT47A4|CT47A5|CT47A6|CT47A7|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 10|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 1605557 CT47A11 cancer/testis antigen family 47, member A11 16382448,12477932 255313 NM_173571,AL670379,AI024600,BC029540,DB471077,NG_027735 NP_775842,CAI42057,AAH29540,Q5JQC4 Hs.522775,Hs.715076 CT47.11|CT47A1|CT47A10|CT47A12|CT47A2|CT47A3|CT47A4|CT47A5|CT47A6|CT47A7|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 11|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306138 CT47A2 cancer/testis antigen family 47, member A2 16382448 728090 NM_001080145,AL670379,NG_027742 NP_001073614,CAI42066,Q5JQC4 Hs.673190 CT47.2|CT47A1|CT47A10|CT47A11|CT47A12|CT47A3|CT47A4|CT47A5|CT47A6|CT47A7|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 2|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306139 CT47A3 cancer/testis antigen family 47, member A3 16382448 728082 NM_001080144,AL670379,NG_027741 NP_001073613,CAI42065,Q5JQC4 Hs.673190 CT47.3|CT47A1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A4|CT47A5|CT47A6|CT47A7|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 3|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306140 CT47A4 cancer/testis antigen family 47, member A4 16382448 728075 NG_027740,NM_001080143,AL670379 NP_001073612,CAI42064,Q5JQC4 Hs.673190 CT47.4|CT47A1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A3|CT47A5|CT47A6|CT47A7|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 4|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306141 CT47A5 cancer/testis antigen family 47, member A5 16382448 728072 NM_001080142,AL670379 NP_001073611,CAI42063,Q5JQC4 Hs.673190 CT47.5|CT47A1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A3|CT47A4|CT47A6|CT47A7|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 5|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306142 CT47A6 cancer/testis antigen family 47, member A6 16382448 728062 NM_001080141,AL670379,NG_027739 NP_001073610,CAI42062,Q5JQC4 Hs.723061 CT47.6|CT47A1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A3|CT47A4|CT47A5|CT47A7|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 6|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306148 CT47A7 cancer/testis antigen family 47, member A7 16382448 653282 NG_027736,NM_001080140,AL670379 NP_001073609,CAI42061,Q5JQC4 Hs.712504 CT47.7|CT47A1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A3|CT47A4|CT47A5|CT47A6|CT47A8|CT47A9 CT47|cancer/testis CT47 family, member 7|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306143 CT47A8 cancer/testis antigen family 47, member A8 16382448 728049 NG_027738,NM_001080139,AL670379 NP_001073608,CAI42060,Q5JQC4 Hs.673190 CT47.8|CT47A1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A3|CT47A4|CT47A5|CT47A6|CT47A7|CT47A9 CT47|cancer/testis CT47 family, member 8|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306144 CT47A9 cancer/testis antigen family 47, member A9 16382448 728042 NG_027737,NM_001080138,AL670379 NP_001073607,CAI42059,Q5JQC4 Hs.673190 CT47.9|CT47A1|CT47A10|CT47A11|CT47A12|CT47A2|CT47A3|CT47A4|CT47A5|CT47A6|CT47A7|CT47A8 CT47|cancer/testis CT47 family, member 9|cancer/testis antigen 47|cancer/testis antigen 47A protein-coding 2306151 CT47B1 cancer/testis antigen family 147, member B1 16382448 643311 NM_001145718,AC008162 NP_001139190,P0C2W7 Hs.673190 CT47.13|CT47A13 cancer/testis CT47 family, member 13|cancer/testis antigen 47.13|cancer/testis antigen 47B protein-coding 2312706 CT62 cancer/testis antigen 62 12477932,15905330 196993 NM_001102658,AC068181,AA453520,AL080151,BC039359,BC048128,DB443655 NP_001096128,P0C5K7 Hs.646533 cancer/testis antigen 62 protein-coding 1346058 CTAA1 cataract, anterior polar 1 1497515 1483 1343436 CTAA2 cataract, anterior polar 2 885266 1484 1344197 CTAG1A cancer/testis antigen 1A CTAG1A is an identical copy of the CTAG1B gene (MIM 300156) (Aradhya et al., 2001 [PubMed 11709543]).[supplied by OMIM] 17137291,16596224,15772651,15489334,12477932,12445278,12065688,11709543,11397121,11351307,10523621,9759882,9626360,9605863,9050879,11256614 246100 NM_139250,AF277315,AX024691,AX024693,AF038567,AJ003149,AJ275978,BC130362,BC130364,U87459,CR594675 NP_640343,AAL27013,CAC08999,CAC09000,AAD05202,AAD05203,CAA05908,CAB76945,AAI30363,AAI30365,AAB49693,P78358,AAI60040 Hs.727793,Hs.534310 CTAG1B|ESO1|LAGE2A CT6.1|LAGE-2|autoimmunogenic cancer/testis antigen NY-ESO-1|cancer/testis antigen 1|cancer/testis antigen 1-A|cancer/testis antigen 6.1|l antigen family member 2 protein-coding 1353571 CTAG1B cancer/testis antigen 1B Cancer/testis antigens, such as CTAG1B, are expressed in a variety of malignant tumors but soley in testis among normal adult tissues (Yoshida et al., 2006 [PubMed 16596224]).[supplied by OMIM] 9626360,9605863,9050879,21131422,17023585,16951317,16751374,16596224,16140944,16114059,15772651,15671442,15521719,15475443,15252201,15240519,15069548,15026363,14583496,14559844,14522938,14503968,12889868,12853579,12477932,12452034,12445278,12209997,12138174,12065688,11782380,11709543,11397121,11351307,11256614,11120859,10901371,10523621,9759882,19212631,19155470,19030781,18982744,18923710,18396787,17640060,17625806,17488334,17208940,17137291,19380770,19531622,19728336,19795170,20044626,20053942,20368442,20733200 1485 NM_001327,AF277315,AJ275977,CH471172,AF038567,AJ003149,AJ275978,BC130362,BC130364,U87459,CR594675 NP_001318,AAL27014,CAB76943,CAB76944,EAW72674,AAD05202,AAD05203,CAA05908,CAB76945,AAI30363,AAI30365,AAB49693,O95146,P78358 Hs.728514,Hs.534310 CT6.1|CTAG|CTAG1|CTAG1A|ESO1|LAGE-2|LAGE2B|NY-ESO-1 New York esophageal squamous cell carcinoma 1|autoimmunogenic cancer/testis antigen NY-ESO-1|cancer antigen 3|cancer/testis antigen 1|cancer/testis antigen 6.1|l antigen family member 2 protein-coding 1344888 CTAG2 cancer/testis antigen 2 1580863 21131422,11256614,19212631,17899192,16446548,16381901,15540228,15489336,15489334,15067093,15061963,14559844,14522938,12538712,12477932,12445278,11709543,11120859,11076863,10399963,9626360,9618514,15765097,18237105 30848 NM_020994,NM_172377,AF277315,BC113998,BC114933,BC128045,BC002833,AX024685,AX024687,AX024689,CH471172,AJ012833,AJ012834,AJ012835,AJ223040,AJ223041,AY679088,AY679089,AJ223093,NG_021275,FB510852,FB510854 NP_066274,NP_758965,AAL27015,AAH02833,AAI13999,AAI14934,AAI28046,O75638,O95987,CAL37904,CAL38372,CAL38572,CAL38714,CAA11116,CAA11117,CAC08996,CAC08997,CAC08998,EAW72668,EAW72669,CAA10193,CAA10194,CAA10195,CAA10196,CAA10197,CAA11043,CAA11044,AAV98584,AAV98585,CAV32975,CAV32977 Hs.87225,Hs.713312 CAMEL|CT2|CT6.2|CT6.2a|CT6.2b|ESO2|LAGE-1|LAGE-2b|LAGE2B|MGC138724|MGC3803 CTL-recognized antigen on melanoma|LAGE-1a protein|autoimmunogenic cancer/testis antigen NY-ESO-2|cancer/testis antigen 2|cancer/testis antigen 6.2|cancer/testis antigen family 6, member 2a|cancer/testis antigen family 6, member 2b|l antigen family member 1 protein-coding 1349885 CTAGE1 cutaneous T-cell lymphoma-associated antigen 1 1580863 20694014,12839582,12477932,11181995,11149944 64693 NM_172241,AC099849,CH471088,EF444969,AF177229,AF273058,BC031065,BC070128,BC132871 ADR83256,NP_758441,EAX01138,ACA05971,AAG23843,AAK63198,AAH31065,AAI32872,Q8NEG8,Q96RT6 Hs.406709 CT21.1|CT21.2|CTAGE|CTAGE-1|CTAGE-2 cancer/testis antigen 21.2|cancer/testis antigen family 21, member 1|cancer/testis antigen family 21, member 2|cutaneous T-cell lymphoma-associated antigen 2|protein cTAGE-2 protein-coding 4144904 CTAGE10P CTAGE family, member 10, pseudogene 10737800,12477932 220429 AL136123,BC030655,BI463404,NR_003268 Hs.448219 pseudo 4144922 CTAGE11P CTAGE family, member 11, pseudogene 647288 AL133018,AL162571,NR_027466 Hs.567920 DKFZp434F0327|KIAA0603 pseudo 4144906 CTAGE12P CTAGE family, member 12, pseudogene 21116278 392298 AADB02012494,ABBA01065127,AL355585 pseudo 4144921 CTAGE14P CTAGE family, member 14, pseudogene 401018 AC017070,NG_021536 pseudo 1343019 CTAGE3 CTAGE family, member 3 1580863 12839582,11149944 220112 NG_006514,AL162377,AF338231 AAN77608,Q8IX95 Hs.623891 CTAGE-3|CTAGE3 pseudo 1342761 CTAGE4 CTAGE family, member 4 17207965,12853948,12839582,12477932,11149944,9847074 100128553 NM_198495,AC004889,AF338232,BE272325,DB515636,DB727739,EL733901 NP_940897,AAN77609,Q8IX94 Hs.645204,Hs.720693 cTAGE-4 OTTHUMP00000212564|cutaneous T-cell lymphoma-associated antigen 4|cutaneous-T-cell-lymphoma-specific tumor antigen 4|protein cTAGE-4 protein-coding 1351524 CTAGE5 CTAGE family, member 5 1580863 9356211,17474147,18029348,17081983,16344560,15489334,14702039,12839582,12477932,11803467,11472066,11149944,8889548 4253 BX648014,CD102996,CD512382,CR594736,CR610706,CR621236,CV809109,DA072098,U73682,U94780,NM_203356,NM_203354,NM_005930,NM_203355,AL132639,CH471078,AA731729,AB209528,AF338233,AF338234,AK055791,AK091252,AK298935,AK315254,AL832233,AL833415,AW451965,BC029513,BC039017,BC051363,BC064355,BM929588,BQ424957,BX367676,BX640994 ADR82743,AAB86589,AAB86593,O15320,Q05BM1,Q4G155,Q59FD2,NP_976231,NP_976229,NP_005921,NP_976230,EAW65804,EAW65805,EAW65806,EAW65807,EAW65808,EAW65809,EAW65810,EAW65811,EAW65812,EAW65813,EAW65814,EAW65815,EAW65816,BAD92765,AAN77610,AAN77611,BAG52318,BAG61038,AAH29513,AAH39017,AAH51363,AAH64355,CAE45997 Hs.509200,Hs.540038 MEA6|MGEA|MGEA11|MGEA6 cutaneous T-cell lymphoma-associated antigen 5|meningioma expressed antigen 6 (coiled-coil proline-rich)|meningioma-expressed antigen 6/11|protein cTAGE-5 protein-coding 1347858 CTAGE6 CTAGE family, member 6 737633,1580863 15489334,12477932 737633 340307 BC110410,NM_178561,AC106862,CH236959,BC043153,BC101323,BC101324 AAI01325,Q86UF2,NP_848656,AAI01324 Hs.676333 CTAGE6|MGC41943 protein cTAGE-6|putative protein cTAGE-6 protein-coding 1344677 CTAGE7 CTAGE family, member 7 414233 2816814 CTAGE9 CTAGE family, member 9 11181995,12477932,9847074,12839582,12853948 643854 AC005587,AL135904,BC101322,CH471051,NM_001145659 A4FU28,AAD05194,AAI01323,CAB99213,EAW48047,NP_001139131 Hs.632613 CTAGE family, member 4-like|CTAGE family, member 9|OTTHUMP00000045615|cutaneous T-cell lymphoma-associated antigen 9|protein cTAGE-9 protein-coding 1342835 CTAGEP CTAGE family pseudogene 737633 12477932 737633 119437 NG_006973,AL139123,BC036527 Hs.620802 CTAGEP|MGC33437 pseudo 732729 CTBP1 C-terminal binding protein 1 This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq] 1580863 20800578,15708980,15705784,15592428,15542832,15525529,15489334,15188402,15060175,14701752,14645520,14567915,12829790,12769861,12711682,12700765,12679040,12565893,12477932,12444977,12419229,12372828,12052894,11864595,11739372,11590170,11583618,11509661,11373277,11328817,11313276,11022042,10995736,10766745,10764811,10567582,10438528,10369679,10359772,10196224,9858600,9650586,9535825,9479502,8440238,16609867,7479821,19450512,19216735,19188451,19162039,19136938,19103759,18765668,18524818,18354494,18323776,18212045,18184656,18086895,17967884,17662696,17538025,17431394,17157814,17028196,16840720,16804902,16762039,16740659,16547505,16481748,16292346,16287852,16122695,16061479,16036112,15834423,15831101,18374649,11568182,9824164,12714599,11959865,12867035,11462050,15897867,18029348,19505873,19506021,19690890,19744932,19851296,20198315,20237496,20361981,17213307,19242095,20835243,16510875,16702210,16787403,17130829,18625718,19486893,19754958,20211142,20818429 1487 NM_001012614,NM_001328,AC092535,CH471131,AF091555,AL137653,BC011655,BC053320,BC064333,BC072021,BC098400,BM989059,BU553431,CR605200,CR608612,U37408 NP_001319,NP_001012632,AAY40989,EAW82599,EAW82600,EAW82601,EAW82602,AAD14597,CAB70861,AAH11655,AAH53320,AAH72021,AAH98400,AAC62822,Q13363,Q4KMQ8,Q6IP95,Q7Z2Q5,Q9NSY3,ABM82844,ABM86028 Hs.594321,Hs.208597 BARS|MGC104684 C-terminal-binding protein 1|OTTHUMP00000217687|brefeldin A-ribosylated substrate protein-coding 68535 CTBP2 C-terminal binding protein 2 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. [provided by RefSeq] 1580863 9479502,19423541,19366831,19318432,19240061,18794092,18264096,18184656,17546044,17023432,16356938,16189514,15542832,15146197,15060175,12711682,12556451,12477932,11864595,11504872,11163272,10764811,10756197,10567582,10438528,9858600,9724649,7479821,10359772,12867035,15489334,20523059,20564319,20690139,19798104,12714599,16385451,19486893,19506021,19549807,19668232,19754958,19866473,19900942,19902474,20379614,20450899,20460480,20717903,20878950,21071540 1488 NM_001083914,NM_001329,NM_022802,AL157888,AL596261,AL731571,CH471066,AF016507,AF222711,AK290390,AL833398,BC002486,BC037900,BC047018,BC052276,BC072020,BQ933925,BT007012,CN353451,DQ250324 NP_001077383,NP_001320,NP_073713,CAH72472,CAI16100,CAI16101,CAI16102,EAW49247,EAW49249,EAW49250,AAC39603,AAG45951,BAF83079,CAH10590,AAH02486,AAH37900,AAH47018,AAH52276,AAH72020,AAP35658,ABB82238,P56545,Q1WIS0,Q5SQP8,Q8IY44 Hs.501345 C-terminal-binding protein 2|ribeye protein-coding 2902962 CTBP2P1 C-terminal binding protein 2 pseudogene 1 12815422,9847074 352905 AC025226,NG_002808 pseudo 1351227 CTBS chitobiase, di-N-acetyl- 728411,1580863 16794344,12477932,11907625,10336991,7606925,2751306,1549114,1527079,15252009,2531691 728411 1486 NM_004388,AF085706,AL359762,CH471097,AI339601,AK075423,AK298703,AK314640,BC024007,BC065191,BC096752,BC126333,BC126335,CR590327,CR595959,CR602282,CR615615,M95767 NP_004379,AAC35852,CAH70206,CAH70207,EAW73230,EAW73231,EAW73232,EAW73233,BAG52135,BAG60860,BAG37202,AAH24007,AAH96752,AAI26334,AAI26336,AAA35684,Q01459,Q5VX50,Q5VX51,Q8TC97 Hs.513557 CTB OTTHUMP00000011570|di-N-acetylchitobiase protein-coding 733105 CTCF CCCTC-binding factor (zinc finger protein) This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. [provided by RefSeq] 1580863 10906122,10839547,10839546,10625678,10458613,15669143,20966046,16344560,8649389,10734189,16949368,9591631,9407128,19369356,19322193,19247430,19158269,19074263,19060911,19056695,19008940,18923423,18654629,18604514,18550811,18347100,18237772,18235444,18207574,18021171,17827499,17583694,17382889,17267480,17081983,16989720,16731911,16230345,16140944,16107875,15958555,15941718,15731119,15670593,15489334,15471867,15454938,15361875,15304340,15096508,15084242,14759373,14716017,14702039,14645543,14645507,14503807,12960026,12878173,12787766,12524457,12477932,12461525,12417987,12203779,12191639,12099698,12075007,12054881,11997516,11971967,11827452,11782357,11748221,11743158,11525835,20584980,20733034,20196073,15229244,16595548,16815976,17603073,18413740,18662993,19450526,19513555,19568426,19584098,19644448,19737964,19818655,19956589,20038529,20051228,20101205,20110362,20133600,20478995,20610384,17210645,17218270,19922652 10664 AA814313,DB229066,NM_001191022,NM_006565,AC009095,AC027682,AF145477,CH471092,CQ834784,AB209793,AI753629,AK093395,AK314804,BC014267,BT009915,U25435 NP_001177951,NP_006556,AAF31318,EAW83142,EAW83143,EAW83144,EAW83145,EAW83146,CAH05607,BAD93030,BAG52706,AAH14267,AAP88917,AAB07788,P49711,Q59EL8,ABM86760,ABW03820 Hs.368367 11 zinc finger transcriptional repressor|11-zinc finger protein|CTCFL paralog|OTTHUMP00000197610|transcriptional repressor CTCF protein-coding 1313529 CTCFL CCCTC-binding factor (zinc finger protein)-like CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. [provided by RefSeq] 1580863 14578343,20339536,20438700,20305816,18765639,18632606,18467432,18413740,18195709,18095639,17962299,17957795,17428394,17363524,17062669,16854382,16140944,12477932,12191639,12011441,11780052,15489334,18029348,19675668,17048991,21034534,20649179 140690 DQ778114,DQ778115,DQ778116,DQ778117,DQ778118,DQ778119,DQ778120,DQ778121,DQ778122,DQ778123,DQ778124,DQ778125,DQ778126,DQ778127,DQ778128,DQ778129,DQ778130,DQ778131,AL035541,AL160176,CH471077,AF336042,AK128070,AK313990,AY071919,BC060763,BC130486,DQ294738,DQ778108,NM_080618,DQ778109,DQ778110,DQ778111,DQ778112,DQ778113,BC137482,BC137483 ABH10096,ABH10097,ABH10098,ABH10099,ABH10100,ABH10101,ABH10102,ABH10103,ABH10104,ABH10105,ABH10106,ABH10107,ABH10108,ABH10109,ABH10110,ABH10111,ABH10112,ABH10113,Q8NI51,NP_542185,CAI42956,EAW75516,EAW75517,EAW75518,AAM28645,BAG54626,BAG36702,AAL61541,AAI30487,ABB92839,ABH10090,ABH10091,ABH10092,ABH10093,ABH10094,ABH10095,AAI37483,AAI37484 Hs.131543 BORIS|CT27|CTCF-T|HMGB1L1|MGC163358|MGC169105|MGC169106|dJ579F20.2 BORIS-like protein|CTCF paralog|CTCF-like protein|HMG-1L1|brother of the regulator of imprinted sites|cancer/testis antigen 27|putative high mobility group protein 1-like 1|putative high mobility group protein B1-like 1|transcriptional repressor CTCFL|zinc finger protein CTCF-T protein-coding 1352600 CTD Coats disease 1283 1323374 CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 This gene encodes a protein which interacts with the carboxy-terminus of transcription initiation factor TFIIF, a transcription factor which regulates elongation as well as initiation by RNA polymerase II. The protein may also represent a component of an RNA polymerase II holoenzyme complex. Alternative splicing of this gene results in two transcript variants encoding 2 different isoforms. [provided by RefSeq] 1580863 9765293,12676794,19215094,18294453,17081983,16964243,15723517,15670829,15489334,15302935,14702039,14576433,14517542,12732728,12591941,12591939,12578358,12560496,12477932,12370301,12185079,12036313,11273209,10938286,10439962,10385623,9822634,9405607,9159119,15893730,12721286,17643375,19255092,19888685 9150 NM_004715,NM_048368,NG_007988,AC021594,AC068473,CH471117,AF081287,AF154115,AK123180,BC015010,BC032515,BC047999,BC052576,BC063447,BX103692,CF593225,CR602644 NP_004706,NP_430255,EAW66628,EAW66629,EAW66630,EAW66631,EAW66632,AAC64549,AAD42088,AAH15010,AAH52576,AAH63447,Q9Y5B0 Hs.465490 CCFDN|FCP1 CTD of POLR2A, phosphatase of, subunit 1|RNA polymerase II subunit A C-terminal domain phosphatase|TFIIF-associating CTD phosphatase 1|serine phosphatase FCP1a|transcription factor IIF-associating CTD phosphatase 1 protein-coding 1313770 CTDSP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 1580863 19004823,19807881,10967134,17085434,16189514,15681389,15489334,14743429,12721286,12477932,11950066,20222012,19913121,20628086 58190 NM_021198,NM_182642,AC021016,AF229163,AX017844,AX017988,CH471063,AF217969,AF229162,AF258582,AK075090,AY279529,AY279530,BC012977,CR590321,CR598368,CR598966 NP_067021,NP_872580,AAG15404,EAW70615,EAW70616,EAW70617,EAW70618,AAG17212,AAG15402,AAG23785,AAP34397,AAP34398,AAH12977,Q9GZU7,Q9HBT0,ABZ92407 Hs.444468,Hs.715312 NLIIF|SCP1 NLI-IF|NLI-interacting factor 3|OTTHUMP00000207171|OTTHUMP00000207173|OTTHUMP00000207174|carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1|nuclear LIM interactor-interacting factor 3|small C-terminal domain phosphatase 1|small CTD phosphatase 1 protein-coding 1342553 CTDSP2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 1580863 17207965,9315096,17085434,16724108,16344560,15489334,15146197,12721286,12477932,8673473,8090779,19004823 10106 AC083805,AC121759,CH471054,AF000152,AF022231,AK226076,AK291289,AK294930,AK310183,AK310873,AK312413,AY279531,BC018922,BC065920,CN313995,CR594177,NM_005730,DB001093,U81556 NP_005721,EAW97081,EAW97082,EAW97083,EAW97084,EAW97085,EAW97086,EAW97087,EAW97088,EAW97089,AAB71816,AAD09331,BAF83978,BAG58009,AAP34399,AAH65920,ADQ32530,AAB39318,O14595,Q99809 Hs.524530 OS4|PSR2|SCP2 NLI-interacting factor 2|carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2|conserved gene amplified in osteosarcoma|nuclear LIM interactor-interacting factor 2|protein OS-4|small C-terminal domain phosphatase 2|small CTD phosphatase 2 protein-coding 1345284 CTDSPL CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like 1580863 19478941,19140316,19047128,19016758,17903305,17085434,15051889,12721286,12543795,9179494,19004823,15009212,12052871,11884399,11572868,11278802,11145967,10617616,20193080,20412120,19885927,20379614 10217 NM_005808,AC093415,AC105752,CH471055,AI143812,AI192993,AJ575644,AJ575645,AY279532,AY364238,CR611541,D88153,NM_001008392 NP_001008393,NP_005799,EAW64502,EAW64503,EAW64504,EAW64505,CAE11804,CAE11805,AAP34400,AAQ76797,BAA21667,O15194,AAI66643 Hs.475963 C3orf8|HYA22|PSR1|RBSP3|SCP3 CTD small phosphatase-like protein|CTDSP-like|NIF-like protein|NLI-interacting factor 1|RB protein serine phosphatase from chromosome 3|carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3|nuclear LIM interactor-interacting factor 1|small C-terminal domain phosphatase 3|small CTD phosphatase 3 protein-coding 1605073 CTDSPL2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 16344560,14702039,12477932,11042152 51496 NM_016396,AC009996,AC025043,AC025430,CH471082,AF161478,AF161543,AK001385,AK226094,AK291230,AY364237,BC018623,BC035744,CR627421,DA995235,DQ128104 NP_057480,EAW77265,EAW77266,AAF29093,AAF29030,BAA91664,BAF83919,AAQ76796,AAH18623,AAH35744,CAH10508,AAZ42188,Q05D32,ABM85014,ABW03674 Hs.497967 FLJ10523|HSPC058|HSPC129 CTD small phosphatase-like protein 2|CTDSP-like 2 protein-coding 1350898 CTF1 cardiotrophin 1 The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1626411,1626410,1580863 19913121,20628086,20683337,20053569,15219667,12707269,12477932,12234945,11834704,11058912,8755479,8833032,7862649,7738033,19273604,19155793,18609050,17979974,17940213,17483238,15489334,15339920,20224758,20474083 1626411,1626410 1489 NM_001330,NM_001142544,NG_009171,AC135048,CH471192,U43033,BC036787,BC049822,BC064416,U43030 NP_001321,NP_001136016,EAW52192,AAD12173,AAH36787,AAH64416,AAA85229,Q16619,Q5U5Y7 Hs.483811 CT-1|CT1 cardiophin 1|cardiotrophin-1 protein-coding 1602017 CTF2P cardiotrophin 2 pseudogene The cytokine neuropoietin belongs to the IL-6 superfamily. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq] 18085818,15051883,20210993 647088 NG_005797,AC135048,AY518206 NP pseudo 731013 CTGF connective tissue growth factor 2314476,2314483,2314489,2314507,2314511,2314512,2314513,2314517,2314529,2314535,2314537,2314539,2314603,2314604,2314607,2314612,1601118,2314473,2314488,2314516,632527,2314021,2314490,2314505,2314525,2314366,2314367,2314623,2314357,2314475,2315507,1580863,734846 20628624,11855859,11818516,11751417,11744618,11697887,11532378,11502477,11101692,10614647,10457363,10350062,10204117,9927660,9242708,9054739,1925598,1654338,1334251,1293144,18846327,20053285,20966418,18683703,20522536,21071938,19730442,20162579,20697347,20576680,20660557,20840672,11897682,18481257,18451226,18400984,18395916,18358427,18344285,18319604,18292194,18287089,18266973,18264937,18245529,18212329,18172013,18080105,17996907,17951996,17951630,17944991,17922682,17915216,17908800,17881752,17876891,17786299,17765657,17681742,17673559,17671176,17657819,17622321,17602195,17580150,17550972,17498677,17437852,17399955,17399683,17393107,17375628,17239853,17239539,17224075,17215322,17192487,17170128,17119035,17116388,17093396,16899928,16889607,16877704,16858645,16820572,16813525,16790529,16731742,16684954,16571622,16543635,16528248,16501850,16482098,16457822,16373901,16344560,16291159,16270194,16247469,16204411,16186174,16044512,15956925,15950619,15941869,15940639,15857887,15820145,15761249,15761189,15703175,15598883,15536170,15526358,15459777,15377500,15345671,15298857,15247510,15135656,15113833,15111539,15090860,15053922,15045137,15041728,15039132,15003992,14996858,14988298,14758550,14702039,14684735,14633859,14585398,14574404,14512169,12951326,12941731,12888575,12831056,12811819,12787426,12760970,12668285,12595495,12571253,12553878,12535930,12496395,12477932,12470643,12398938,12297288,12239232,12218048,12217862,12150969,12114504,12036876,12016149,11967989,9371786,10809757,19494553,19453261,19429239,19382180,19378419,19301259,19298220,19277979,19247157,19243500,19233176,19210343,19208517,19179545,19153601,19096030,19054818,19054816,19016368,18936953,18922980,18922143,18835464,18805993,18787533,18783549,18676875,18648180,18639630,18628999,18622762,18596209,16255854,17579708,19218111,19253834,19409809,19549692,19565505,19589256,19625611,19641518,19657322,19670427,19673024,19724859,19762080,19764552,19764567,19789190,19822645,19863391,19890996,19895313,19922639,19955828,20004937,20015945,20018872,20032097,20032117,20050020,20056838,20117462,20180416,20237496,20305691,20453000,20522428,20237235,19333718,20222112,19485899,20613589,20971063,20201953 2314476,2314483,2314489,2314507,2314511,2314512,2314513,2314517,2314529,2314535,2314537,2314539,2314603,2314607,2314612,1601118,2314473,2314488,2314516,632527,2314021,2314490,2314505,2314525,2314366,2314367,2314623,2314357,2314475,2315507,734846 1490 AF316366,AF316367,AF316368,AL354866,CH471051,DQ097843,X92511,AF127918,AK092280,AK125220,AK290884,AK315207,AY395801,AY550024,NM_001901,BC087839,BT019794,BT019795,CR541734,CR541759,DA552292,M92934,U14750,X78947,NG_016131,HM015591,FB668169,HH976319 AAS55639,NP_001892,AAK60505,AAK60506,AAK60507,CAC44023,EAW48038,EAW48039,AAZ29611,CAA63267,BAG52518,BAG54167,BAF83573,BAG37644,AAQ95223,AAH87839,AAV38597,AAV38598,CAG46534,CAG46559,AAA91279,AAA75378,CAA55544,P29279,Q5M8T4,Q6FHL8,ADL14512,CAS92743,CBX51740 Hs.410037 CCN2|HCS24|IGFBP8|MGC102839|NOV2 CCN family member 2|IBP-8|IGF-binding protein 8|IGFBP-8|connective tissue growth factor|hypertrophic chondrocyte-specific protein 24|insulin-like growth factor-binding protein 8 protein-coding 1348672 CTGLF10P centaurin, gamma-like family, member 10 pseudogene 653234 NG_005805,AL445201 bA358L16.1 pseudo 1348096 CTGLF11P centaurin, gamma-like family, member 11 pseudogene 15164054 653259 NG_005806,AL603965 A8MT82 bA145E20.1 pseudo 1350681 CTGLF12P centaurin, gamma-like family, member 12 pseudogene 414224 NG_005804,AL603966 bA164N7.2 pseudo 1353769 CTGLF8P centaurin, gamma-like family, member 8 pseudogene 12477932 728608 NG_005864,AL450334,AL603982 KIAA0187|bA556L1.5 pseudo 1345513 CTGLF9P centaurin, gamma-like family, member 9 pseudogene 728005 NG_005807,AL731733 bA548K23.1 pseudo 732084 CTH cystathionase (cystathionine gamma-lyase) This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1600763,1600761,1300048,1359024 19913121,20628086,20634891,8125298,1339280,20849728,18029348,19324355,19161160,19048631,19019829,18988749,18849566,18701025,18676680,18476726,17311259,16710414,16189514,15489334,15347670,15151507,12574942,12477932,9373149,10212249,19170196,19261609,19418582,19428278,19531479,19625176,19692168,19948975,20175737 1600763,1600761,1359024 1491 NM_001902,NM_153742,NG_008041,AL354872,CH471059,AK223376,AK303946,AK310269,BC015807,BT006882,S52028,S52784,DB466459,NM_001190463 NP_001893,NP_714964,CAC12901,CAC12902,EAX06450,EAX06451,BAD97096,BAG64874,AAH15807,AAP35528,AAB24699,AAB24700,P32929,ACE87570,ACE86883,NP_001177392 Hs.19904 MGC9471 cystathionine gamma-lyase|cysteine desulfhydrase|gamma-cystathionase|homoserine deaminase|homoserine dehydratase protein-coding 1354028 CTHM cono-truncal heart malformation 1492 1352911 CTHRC1 collagen triple helix repeat containing 1 CTHRC1 is specifically expressed in vascular calcifications of carotid artery lesions and may contribute to vascular remodeling of injured arteries (Pyagay et al., 2005 [PubMed 15618538]).[supplied by OMIM] 1580863 19730683,18467647,16778098,15618538,15489334,15340161,12975309,12477932 115908 NM_138455,AC012213,AC069351,CH471060,AF395488,AK130063,AK300273,AY136825,AY358914,BC014245,BC021025,CR592899,CR594803,CR596030,CR612318,CR605392 NP_612464,EAW91874,EAW91875,EAW91876,AAO17919,BAG62033,AAN15749,AAQ89273,AAH14245,Q96CG8 Hs.405614 collagen triple helix repeat-containing protein 1 protein-coding 737465 CTLA4 cytotoxic T-lymphocyte-associated protein 4 This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq] 2302003,2301958,2302001,2301974,2301976,2301995,2301975,2301997,2301998,2302000,1300386,1300385,1358538,1300388,1300387,1580863,1300299,4891517,4891507,4891528,4891519,4891524,4891518,4891500,4891510,4891512,4891520,4891522,4891523,4891526,4891515,4891516,4891521,4891504,4891527,4891499,4891529,4891514,4891509 19913121,20141578,20536507,20557968,20565774,20586801,20587610,20588168,20596022,20603037,20610662,20615526,20628086,20716038,20732370,20805278,20813679,19438904,20608155,16769128,16767670,16756466,16750991,16712655,16708397,16671945,16670525,16641053,16640877,16638702,16629714,16620985,16614815,16611252,16604497,16571085,16567828,16564528,16527605,16512757,16509873,16504663,16489681,16476059,16445777,16417239,18328194,18296657,18292987,18292106,18282809,18256061,18223493,18200060,18174230,18162511,18095376,18093182,18088253,18081831,18078835,18076363,18059468,18056853,18056379,18049163,18047932,18041714,18031393,18021981,18000051,17970785,17970696,17960657,17949264,17942509,17941906,17938902,17937736,17920697,17919231,17846597,17825114,17785820,17785798,17767555,17712998,17712006,17703412,17678726,17666451,17659059,17652883,17558709,17526951,17524498,17521325,17504905,17482523,17469155,17465502,17459075,17456215,17439880,17427759,17426089,17384200,17341658,17341301,17334650,17287608,17284227,17280620,17269936,17257313,17225925,17209142,17197413,17192819,17154080,17150279,17138053,17130562,17130532,17082597,17079164,17048303,17020648,17015751,17005693,17004266,17000707,16980072,16972006,16931720,16926542,16916658,16893393,16891094,16872485,16869018,16868438,16849765,16831326,16818761,16797372,16792673,16788246,16775619,3220103,18641304,15814706,19622768,19621172,19609446,19602000,19595177,19592124,19563524,19559744,19559392,19543113,19530270,19527514,19524188,19505258,19503088,19490216,19479237,19473815,19404967,19386687,19380781,19376178,19345707,19333938,19332045,19332044,19284445,19284444,19269255,19264973,19263877,19263529,19258923,19254250,19247692,19230824,19225544,19222422,19202444,19188433,19180256,19175525,19173720,19147248,19143820,19141582,19136037,19131662,19129082,19103559,19092854,19089435,19073967,19036923,19028820,19026137,19020530,19019335,19014504,19012493,18978792,18974840,18940880,18930330,18929517,18925838,18848621,18818748,18817831,18783892,18782261,18780601,18778710,18757416,18752454,18705023,18691768,18691306,18687223,18680513,18676680,18665147,18636124,18633131,18595775,18580850,18576317,18563180,18556337,18545145,18528295,18523152,18498289,18493148,18466531,18466513,18462498,18449568,18448390,18443194,18396212,18378005,18371160,18361934,18341485,18337305,16405845,15507878,15494488,15489334,15486062,15485777,15476165,15452244,15378793,15356063,15334480,15305888,15301861,15248219,15240634,15237707,15218356,15208156,15199380,15182328,15180809,15140570,15138458,15132716,15128776,15114591,15061706,15059373,15055474,15022315,15019292,15019278,15018649,14986169,14975605,14751028,14730632,14720259,14715845,14709415,14705224,14678452,14675397,14629291,14620161,14616291,14567561,14566095,14522090,14505215,12942714,12914522,12911663,12894875,12873588,12864988,12858454,12838528,12826605,12794109,12791095,12780750,12732844,12724780,12717632,12696006,12618861,12610047,12606712,12582153,12574361,12559633,12555221,12540792,12534352,12515273,12508774,12507781,12477932,12465728,12458055,12458054,12455815,12444128,12393538,12384790,12355442,12297345,12244107,12225905,12225635,12202150,12195015,12185534,12173468,12135671,12121283,12114354,12097196,12071705,12060749,12058260,12050220,12047362,12047357,12032199,12030917,12022356,12021313,12021137,12007590,12003670,11994459,11978629,11936461,11916172,11900275,11886967,11857062,11842815,11788096,11776689,11771526,11752507,11751964,11735222,11726229,11685455,11681491,11678454,11678447,11606170,11583755,11583591,11580858,11555351,11522687,11477480,11426024,11327371,11288988,11286636,11279501,11239948,11167807,11162656,11158025,11128657,11098935,11092697,11086105,11081251,11021528,10924276,10903931,10842319,10831323,10799854,10556814,10493833,10475192,10372542,10369864,10189842,9973379,9813138,9812899,9724847,9712716,9259273,9256472,9228944,9200449,8817351,8638161,7807015,7694153,7559643,7545666,7513726,1714933,1713603,17023015,10618429,11279502,15610849,11826754,11826026,16393254,16390390,16380915,16378074,16373368,16362660,16352685,16325273,16313305,16299026,16279844,16276008,16259622,16248997,16237465,16229750,16227604,16206510,16198253,16189655,16178018,16137550,16136471,16133179,16112024,16101935,16081581,16046318,16045690,16040335,16034471,16025348,16025255,16015687,16005527,16002699,15994283,15973119,15961581,15953005,15943829,15940668,15928253,15904974,15888380,15888281,15881277,15860238,15841095,15818712,15815621,15812539,15790344,15785242,15784471,15711022,15708894,15708585,15688186,15657618,15652423,15649153,15640608,15629882,15621571,15617700,15610363,15579786,15549146,15546339,15540511,15517637,20331384,20578265,20868585,20704820,20716621,20825955,20848568,20881011,20920330,20940051,20962850,20973039,21034161,21040781,21044351,21049406,21054240,21081144,21082224,21084022,21085187,20138855,17875758,20482250,20453842,18246813,19037649,19170196,19173804,19403062,19430480,19547759,19570209,19570770,19578600,19625176,19625381,19638588,19658300,19669200,19672595,19688278,19692168,19731979,19734241,19735272,19735686,19737153,19737369,19740340,19758313,19766059,19776380,19778566,19780033,19787358,19811307,19815302,19815671,19817985,19824886,19857736,19884265,19894308,19895365,19895409,19896092,19913589,19922464,19949652,19950182,19951233,19951419,19956097,19959217,20012554,20015215,20016193,20016783,20017310,20020126,20030788,20037585,20066438,20072139,20082854,20087947,20113255,20134044,20145677,20190752,20214754,20219786,20224272,20233754,20237496,20300120,20331378,20345871,20352109,20358027,20371478,20378605,20378664,20388336,20394753,20395963,20408864,20416077,20418973,20433886,20435510,20439292,20444755,20445568,20453000,20470888,20477885,20491567,20498205,20503287,20537165,20538028,20123855 2302003,2301958,2302001,2301974,2301976,2301995,2301975,2301997,2301998,2302000,1300386,1300385,1358538,1300388,1300387,1300299,4891517,4891507,4891528,4891519,4891524,4891518,4891500,4891510,4891512,4891520,4891522,4891523,4891526,4891515,4891516,4891521,4891504,4891527,4891529,4891514,4891509 1493 NM_005214,NM_001037631,NG_011502,AC010138,AF142144,AF316875,AF411058,CH471063,DQ357942,M37243,M37244,M37245,M74363,AF414120,AF486806,AK313732,AY209009,AY792514,BC069566,BC070162,BC074842,BC074893,BG058720,CD639535,L15006,U90273,DQ534200,GN344047 NP_005205,NP_001032720,AAX93176,AAF02499,AAK13084,AAL40932,EAW70354,ABC67470,AAA52773,AAA52127,AAL07473,AAL96664,BAG36473,AAO17066,AAV66331,AAH69566,AAH70162,AAH74842,AAH74893,AAB59385,AAD00698,O95653,P16410,Q0Q5F0,Q5S005,Q6GR94,Q8TDA6,Q9BZK2,Q0PP65,ABG79000,Q0Q5F1,CAY55959 Hs.247824 CD|CD152|CELIAC3|CTLA-4|GRD4|GSE|ICOS|IDDM12 OTTHUMP00000216623|cd152 antigen|celiac disease 3|cytotoxic T-lymphocyte antigen 4|cytotoxic T-lymphocyte protein 4|cytotoxic T-lymphocyte-associated antigen 4|cytotoxic T-lymphocyte-associated serine esterase-4|ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 protein-coding 1351108 CTM cataract, Marner 1348842 CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa 1580863,2289491,2289791,2289792,2289795,2289798,2289799,2289804,2289811,2289793,2289796,2289797,2298485,2298486 12734196,12477722,9700171,8323564,19124205,18566211,18418437,18078809,17979184,17760743,17668349,17576040,17081983,16807684,16798615,16344560,16322481,16273278,15948257,15916880,15695815,15561718,15541354,15489334,15302935,15297182,14755240,14702039,14599963,12532469,12477932,12003790,11907041,11179419,11069925,10635315,10508479,10026224,9512503,9266853,9110993,8404069,8188230,7945318,7790378,7706414,7650039,1924379,1904011,11883950,10420987,9762469,12640114,7954478,9434630,10910767,10381631,11960376,9233779,8227214,7542250,11080149,14625392,12604612,12808048,14567991,7651399,8259519,12417594,15294866,20936779,20032304,20371743,19913121,20529814,20529828,20628086,19763817,10460003,10868478,11226248,11274246,19458087,19656157,19726720,19745064,19773761,19826047,19918298,19941816,7806582,7890674,9168809,9214391,15923648 2289491,2289791,2289792,2289795,2289798,2289799,2289804,2289811,2289793,2289796,2289797,2298485,2298486 1495 NM_001903,AC011405,AC034243,AF102803,AY884207,CH471062,AK055751,AK094151,AK296708,AK297332,AK300439,AK304267,AU141929,BC000385,BC031262,BU624488,CR591756,D13866,D14705,L22080,L23805,U03100 NP_001894,AAC99459,AAW56940,EAW62122,EAW62123,EAW62124,BAG52830,BAG59301,BAH12550,BAG62162,BAG65130,AAH00385,AAH31262,BAA02979,BAA03530,AAA35502,AAA86430,AAA18949,P35221,Q8N1C0,ABM82176,ABM85361 Hs.656653,Hs.445981 CAP102|FLJ36832|FLJ52416 alpha E-catenin|alpha-E-catenin|alpha-catenin|alphaE-catenin|cadherin-associated protein,102kDa|catenin alpha-1|renal carcinoma antigen NY-REN-13 2293448 PRSTS211_H protein-coding 1312865 CTNNA2 catenin (cadherin-associated protein), alpha 2 1580863 19913121,20628086,8432524,19240061,18519826,18464913,18163523,15815621,15489334,12477932,1638632,12808048,16182284,16325583,16344560,18839057,19416921,20379614,15923648 1496 NM_004389,AC008067,AC010975,AC011741,AC011746,AC016670,AC016716,AC093322,AC096573,AC096753,AC104780,CH471053,AK127226,AK294362,AK295181,AK295493,AK303035,AL708938,BC040458,BC052996,BX537769,BX648368,CR604799,M94151,DA313393,DC341423,FJ695201,NM_001164883 NP_004380,AAY15073,AAX93241,AAY15008,AAY14758,AAY14763,AAX88946,EAW99563,EAW99564,EAW99565,BAG54457,BAH11745,BAH12003,BAH12088,BAH13884,AAH40458,AAH52996,CAD97832,AAA58407,P26232,Q49AD3,NP_001158355 Hs.167368 CAP-R|CAPR|CT114|CTNR|DKFZp686H02198 OTTHUMP00000216460|OTTHUMP00000216462|alpha N-catenin|alpha-N-catenin|alpha-catenin-related protein|cadherin-associated protein, related|cancer/testis antigen 114|catenin alpha-2 protein-coding 1320341 CTNNA3 catenin (cadherin-associated protein), alpha 3 1580863 20400461,11590244,19187332,19105203,18163421,17761686,17535849,17366617,17209133,17158188,17081983,16199552,15533819,15489334,15342556,15302915,15164054,15075440,14559775,12596047,12477932,16385451,20306291,20379614,20546594,20595579,19913121,20628086 29119 BP362015,NM_001127384,AC016819,AC018979,AC020642,AC022017,AC022029,AC022401,AC022534,AC026394,AC069536,AF282692,AL139240,AL592075,AL607022,AL607023,AL713957,AL731538,AL731549,CH471083,AF091606,AK289756,AK308726,AK313882,AY198183,BC022004,BC030646,BC065819,NM_013266 AAH65819,Q5SW23,Q6XYS1,Q8WW10,Q9UI47,NP_037398,NP_001120856,AAQ14328,CAI13388,CAI13390,CAI16316,CAH73988,CAH70164,EAW54249,EAW54250,EAW54251,AAF21801,BAF82445,BAG36608,AAO43101,AAH22004,AAH30646 Hs.660362 MGC26194|MGC75041|VR22 OTTHUMP00000019684|alpha T-catenin|alpha-T-catenin|alpha-catenin-like protein|cadherin-associated protein|catenin alpha-3 protein-coding 1322895 CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 18374411,17952117,17647259,15489334,15164053,14993280,14702039,14690447,12694354,12477932,12270917,11768226,10542337,9806841,9373149,8125298,20696764,20677014 8727 NM_003798,AF134888,AL354797,AY523969,CH471105,AB451283,AB451415,AF006070,AF030233,AF080071,AF135021,AK022539,AK022834,AK022926,AK223230,AK314677,AL050016,BC117208,BC117234,CR600465,CR607617,CR609649,U97067,AF134871,AF134872,AF134873,AF134874,AF134875,AF134876,AF134877,AF134878,AF134879,AF134880,AF134881,AF134882,AF134883,AF134884,AF134885,AF134886,AF134887 ADR83406,NP_003789,AAF07820,AAF07821,CAI39470,CAI39471,CAI39472,CAI39473,AAR92479,EAW59035,EAW59036,EAW59037,BAG70097,BAG70229,AAC26011,AAC83460,AAC69576,AAF07819,BAG51138,BAD96950,BAG37231,CAB43238,AAI17209,AAI17235,AAC27693,Q5JTQ6,Q5JTQ9,Q9UBT7 Hs.58488 CLLP|FLJ08121|alpha-CATU ACRP|alpha-catenin-related protein|alpha-catulin|alpha2-catulin|catenin alpha-like protein 1 protein-coding 1345796 CTNNAP1 catenin (cadherin-associated protein), alpha pseudogene 1 8404069,7601473 1498 NG_001110,AC091981,Z37994 CTNNAP1 pseudo 733705 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa Beta-catenin is an adherens junction protein. Adherens junctions (AJs; also called the zonula adherens) are critical for the establishment and maintenance of epithelial layers, such as those lining organ surfaces. AJs mediate adhesion between cells, communicate a signal that neighboring cells are present, and anchor the actin cytoskeleton. In serving these roles, AJs regulate normal cell growth and behavior. At several stages of embryogenesis, wound healing, and tumor cell metastasis, cells form and leave epithelia. This process, which involves the disruption and reestablishment of epithelial cell-cell contacts, may be regulated by the disassembly and assembly of AJs. AJs may also function in the transmission of the 'contact inhibition' signal, which instructs cells to stop dividing once an epithelial sheet is complete.[supplied by OMIM] 2289674,2289488,2289813,2289814,2289815,2289817,2289818,2289828,2289792,2289829,2289830,2289831,1643593,2289794,2289832,2289833,2289834,2289836,2289837,2289816,2289835,2289840,2289843,1581696,2293188,2298488,2298485,2298800,2298487,2298486,734850,1599632,1599637,1580863,2317517,4143515 20644561,20646434,20646651,19653274,19913121,20208143,20236250,20529814,20529828,20544848,20550535,20613673,20628086,20634891,20596253,17908501,9065401,16753179,12072559,10837025,19635198,19607815,19576224,19563778,19526105,19498322,19492080,19487278,19479054,19475529,19462446,19453261,19440933,19435525,19421142,19401692,19389926,19384065,19383367,19372141,19369584,19351817,19339270,19329935,19323978,19309363,19303159,19298008,19290490,19274078,19273195,19244345,19244247,19240121,19238201,19234195,19197950,19184060,19169765,19153669,19145675,19144919,19141611,19137776,19137020,19131506,19126678,19124718,19124717,19124205,19124064,19118778,19107227,19106159,19104148,19101982,19101658,19094982,19085831,19064572,19061838,19061640,19060929,19040205,19024596,19018094,19003969,18992635,18979195,18977241,18958538,18949395,18949017,18932285,18842495,18837082,18832571,18813944,18807072,18806787,18799618,18787224,18720004,18676739,18676680,18667832,18655368,18653765,18647815,18636547,18632682,18632669,18619646,18618575,18615589,18611862,18609711,18606139,18593917,18592156,18591935,18586027,18573912,18566211,18563180,18560386,18553167,18552505,18541010,18538736,18515080,18500270,18490442,18490349,18485479,18466996,18464243,18460581,18459111,18456656,18455580,18445773,18445113,18439914,18422699,18419788,18397460,18391483,18385740,18384130,18382662,18378692,18376386,18335551,18334222,18330950,18330089,18316596,18316097,18313840,18311776,18309246,18308950,18295959,18288545,18285264,18284543,18282277,18276111,18256147,18242184,18223693,18223684,18218837,18206728,18199649,18193033,18165946,18161931,18078366,18077326,18059161,18048388,18044981,18008331,18006853,18006828,19251162,17996206,17992121,17983804,17983802,17982235,17979184,17979146,17977597,17962810,17952864,17950943,17949810,17914096,17905526,17903198,17875931,17854061,17852416,17851558,17785436,17764657,17724465,17721184,17710160,17693578,17679465,17673525,17668445,17663505,17641414,17638895,17637758,17621269,17601559,17601350,17595165,17592150,17579030,17576040,17558858,17551084,17526942,17522055,17513457,17510384,17510365,17507638,17505512,17504383,17466258,17454753,17429067,17393422,17393110,17383052,17341890,17289029,17284619,17259169,17242406,17241872,17240357,17229887,17219201,17203186,17172473,17168211,17160944,17143299,17128412,17121828,17090604,17090192,17081983,17052462,17050667,17030184,17018282,17008323,16953230,16952352,16945989,16942611,16930546,16865250,16843107,16830381,16815294,16798748,16786128,16772034,16760136,16756720,16730693,16724116,16717102,16712787,16707106,16696969,16688229,16644723,16628468,16621789,16565090,16513652,16507986,16501564,16496348,16476742,16474376,16465411,16462762,16442529,16428447,16407829,16382042,16378739,16378715,16371504,16356174,16344560,16344550,16343437,16328013,16311123,16291872,16254206,16239965,18593713,15572661,12734196,8638126,10773885,8663237,16574648,10192393,9601641,14679171,15853773,9065402,18086858,16188939,7806582,11955436,12000790,12820959,15327769,12482967,12478897,12477932,12466281,12464179,12452049,12446675,12438242,12432063,12420223,12417602,12413882,12408825,12408824,12398896,12389996,12377785,12370829,12297840,12297051,12297048,12235125,12219004,12209999,12209953,12189238,12183361,12169098,12151522,12130512,12127563,12124804,12114015,12111402,12107263,12095414,12077367,12070348,12060769,12052822,12051714,12045208,12037680,12027456,12019147,12000714,11973335,11967263,11957146,11955446,11953860,11950845,11940574,11939410,11930117,11929826,11921277,11920497,11916967,11893906,11889072,11877440,11857309,11856748,11839663,11836555,11836379,11834740,11831984,11826105,11821434,11819825,11818547,11795941,11790773,11751639,11747475,11744694,11734550,11716761,11713476,11713475,11703283,11590244,11533658,11532957,11527961,11483589,11389840,11389839,11309300,11279024,11274246,11266540,11179419,11168528,11157977,11152665,11136974,11136230,11080149,11035789,10980707,10966653,10951583,10947987,10898789,10896949,10862698,10861224,10816572,10806215,10801826,10772923,10769211,10753743,10706604,10679188,10666372,10655994,10644691,10635315,10620020,10488109,10477752,10462524,10435629,10398436,10391090,10381631,10187801,10092585,10037471,10029089,10021369,9971746,9927029,10491393,15574752,15782138,15735679,15542433,15592430,15525529,15327767,15829978,14706341,15735746,9632714,9823329,9738936,9566905,9545347,9521872,9512503,9500465,9482734,9348292,9294210,9245795,9233779,9214391,9139698,9110993,8838805,8757136,8227214,7890674,7829088,7736793,7706414,7702605,7642713,18593907,9843967,12061792,11960376,11712088,11348595,11254878,11245482,11113628,9819408,9535896,9405455,7954478,7876318,7542250,18987336,10890911,9751710,12750561,11251183,10330181,9762469,12003790,9434630,10910767,12628243,11972058,11707392,9286858,8259519,10330403,17353931,12805222,9734785,12657632,10681592,10341227,9852041,10207020,14625392,15256534,14593076,12944908,12799378,11792709,12639940,20631633,20736306,20840813,20959480,19967550,20395444,20491588,20533307,20589835,20660612,20837771,17072303,10980594,18029348,18287330,20503246,20717765,12154096,12949260,17122440,17976063,19101069,19755524,20032304,20372837,15355978,15923648,16510875,16678101,16699503,21056029,20840677,21115917,16204248,12501215,15684397,15670774,15668893,15665104,15660698,15654359,15591320,15588985,15572674,15557107,15523694,15520370,15514031,15500294,15492040,15489334,15455387,15381903,15381698,15331612,15304487,15294866,15289833,15279902,15254684,15239100,15231748,15215241,15194432,15163629,15158448,15149841,15138556,15126105,15111320,15110721,15102686,15082903,15077166,15064706,15060161,15023525,15003504,14993280,14985333,14977843,14960280,14766232,14742711,14702039,14660579,14637149,14633602,14595118,14567991,14563838,14561767,14520463,12972427,12970740,12969793,12952940,12937339,12927518,12920240,12917489,12907143,12883680,12874278,12861022,12857869,12830000,12824925,12810642,12808048,12800191,12771132,12748295,12737446,12729800,12712206,12708483,12700239,12695331,12694354,12692418,12679314,12657639,12640114,12634428,12618757,12606944,12606575,12604612,12603528,12592400,12588987,12587534,12575848,12571228,12556519,12556497,12554773,12532469,12532436,12531901,12515622,16199882,16133456,16132582,16126725,16124054,16114033,16084063,16082250,16038041,16012954,15987741,15972952,15958533,15927956,15916880,15905404,15899904,15896469,15888491,15837931,15832407,15829968,15817486,15806138,15791567,15790758,15781969,16163548,15737630,15728254,15698401,15696778,15695815,15694380,20233054,20460486,20531388,20527231,19413886,20236666,20347502,20454507,20474081,11793365,19661437,20705583,20963515,21061181,21076461,16085715,16196087,16510874,16616828,16849322,19304756,20042714,20572881,20596624,20459822,19664078,19693690,20126544,20428811,20514474,20519507,20532534,20580720,20631314,10026156,10403777,10748026,10825188,10868478,10873669,10987273,11166179,11226248,11401320,12839684,14600025,15221004,15327768,15729346,15811349,15843474,16007074,16204054,16306047,16329837,16622255,16630820,16778892,16858403,17057644,17129455,17208333,17220478,17220880,17360711,17927853,17927863,17927878,17956661,17956664,18078131,18291362,18315906,18320359,18347063,18356165,18486530,18540944,18646694,18685493,18686607,18756595,18772112,18939887,19001871,19038973,19167335,19170196,19175984,19187541,19222307,19247180,19276972,19303846,19324500,19328798,19396152,19407222,19423540,19433865,19448414,19448422,19448592,19461076,19481539,19495794,19520846,19534622,19536331,19545383,19556239,19582367,19608668,19609729,19620634,19625176,19628668,19633358,19633924,19639172,19644051,19650189,19652203,19661031,19679059,19679347,19688824,19690176,19692168,19703516,19703993,19704056,19706825,19711366,19726098,19727391,19728763,19729480,19745699,19751190,19756656,19777185,19780202,19781444,19784072,19801982,19810105,19820688,19826421,19846673,19850036,19857041,19887615,19888426,19898427,19898734,19900369,19912361,19915524,19924227,19931509,19940019,19941816,19952356,19956716,19958059,19961258,19966299,19966865,19996288,19996314,20008139,20019092,20020146,20026641,20028853,20033368,20056651,20061390,20074550,20086044,20093106,20097766,20112731,20122174,20123964,20129645,20137080,20195621,20197769,20210255,20224040,20227366,20232357,20302655,20332102,20332116,20348951,20399743,20406964,20412773,20438785,7650039,20508033,20625999,20519433,20679491 2289674,2289488,2289813,2289814,2289815,2289817,2289818,2289828,2289792,2289829,2289830,2289831,1643593,2289794,2289832,2289833,2289834,2289836,2289837,2289816,2289835,2289840,2289843,1581696,2293188,2298488,2298485,2298800,2298487,2298486,734850,1599632,1599637,2317517,4143515 1499 BX648430,CR596976,CR604301,DA216720,X87838,Z19054,NM_001904,NM_001098209,NM_001098210,AC104307,AY081165,AY463360,CH471055,AB062292,AB451264,AB451392,AK095242,AK289932,AK294778,AK296790,AK299954,AK314776,BC058926,NG_013302 CAA61107,CAA79497,P35222,ABZ92383,NP_001895,NP_001091679,NP_001091680,AAL89457,AAR18817,EAW64625,EAW64626,EAW64627,EAW64628,BAB93475,BAG70078,BAG70206,BAF82621,BAG57905,BAG59368,BAG61781,AAH58926 Hs.476018 CTNNB|DKFZp686D02253|FLJ25606|FLJ37923 OTTHUMP00000209289|beta-catenin|catenin beta-1 protein-coding 1350422 CTNNBIP1 catenin, beta interacting protein 1 The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 10898789,19089909,19038973,18992165,18854359,18852287,18844223,18806748,18715618,18705344,18500270,18433021,18183411,18070361,17638851,17418091,17255093,16575872,16189514,15489334,15063782,14613891,12477932,12417602,12408825,12408824,12182422,12124804,12068170,17353931,16188939,20219600,18287330,18977368,20182836,19433865,19898961,20811694,20830236,20878057,16293619,16325583,16858403,17072306,19550115,19569129 56998 NM_001012329,NM_020248,AL357140,CH471130,AB021262,BC014300,BC146892,BC146896,BI226022,CB995652,CR606136,CR625094 NP_001012329,NP_064633,CAI16886,EAW71631,EAW71632,BAB03458,AAH14300,AAI46893,AAI46897,Q5T4V2,Q9NSA3,AAI72294,ABZ92405 Hs.463759 ICAT|MGC15093 OTTHUMP00000001722|beta-catenin-interacting protein 1|beta-catenin-interacting protein ICAT|catenin, beta-interacting protein 1|inhibitor of beta-catenin and Tcf-4 protein-coding 1346196 CTNNBL1 catenin, beta like 1 The protein encoded by this gene contains an acidic domain, a putative bipartite nuclear localization signal, a nuclear export signal, a leucine-isoleucine zipper, and phosphorylation motifs. In addition, the encoded protein contains Armadillo/beta-catenin-like repeats, which have been implicated in protein-protein interactions. Although the function of this protein has not been determined, the C-terminal portion of the protein has been shown to possess apoptosis-inducing activity. [provided by RefSeq] 1580863 18722174,12659813,18029348,19245693,19228371,19148501,19121846,19100874,19082443,18674869,18325910,17903296,16730941,16189514,15635413,15498874,15489334,14702039,12477932,11780052,9373149,8125298,16712791,16344550,20200978,20379614,20712903,20816195 56259 AK091216,AK130301,AK222592,AK293420,BC022802,BC036739,BC121005,BC121006,CB137946,CR606693,CR611734,AL023804,AL109964,AL118499,CH471077,AF086002,AF239607,AF367471,AF370431,AK024761,AK074663,NM_030877 BAC11121,BAD96312,BAG56927,AAH22802,AAI21006,AAI21007,Q0VAM0,Q8WYA6,NP_110517,CAI42984,CAI42985,CAI42986,CAI42203,CAI42204,CAI42208,CAI19331,CAI19332,EAW76054,EAW76055,AAL69567,AAK53407,AAQ15267,BAB14992 Hs.472667 C20orf33|FLJ21108|NAP|NYD-SP19|P14L|PP8304|dJ633O20.1 OTTHUMP00000030940|beta-catenin-like protein 1|nuclear associated protein|nuclear-associated protein|testis development protein NYD-SP19 protein-coding 1313793 CTNND1 catenin (cadherin-associated protein), delta 1 This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and althernative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. [provided by RefSeq] 1580863 11712088,19394292,21070476,18541383,20460685,20562859,20668551,20151151,11226248,15548582,17215244,18029348,19604117,19615732,19615783,19706605,19711372,20118984,20172018,20232357,20371349,7806582,12734196,19293150,19284555,19162367,19154401,19150613,19116988,19008223,18979298,18950621,18837082,18653469,18641366,18632982,18595142,18550473,18490349,18407999,18343367,18032823,17719574,17668445,17576929,17509776,17383052,17344476,17334396,17264675,17242406,17081983,16982802,16935280,16786001,16534869,16344560,16226102,16212419,16120645,16083285,15951569,15857834,15833838,15817151,15592455,15588985,15561585,15522875,15342556,15324660,15240885,15161659,15146197,14996911,14699141,14660598,14610056,14610055,12885254,12835311,12740216,12671892,12640114,12492499,12477932,12427869,12370829,12151522,12115574,11969288,11855855,11821434,11389551,11382764,11181067,10931041,10835420,10753936,10629228,10409703,10393933,10321838,10225956,10207085,9774455,9653641,9378757,9205841,8808291,8660921,7876318,7651399,12707304,9535896,7542250,10208590,14625392,12604612,15331416,20382170,20564219,20108168,20599710,15166316,20940130,20971762,19763914 1500 NM_001085459,NM_001085461,NM_001331,NM_001085467,NM_001085460,NM_001085462,NM_001085463,NM_001085466,NM_001085464,NM_001085468,NM_001085465,NM_001085469,AP001931,AY505564,CH471076,NM_001085458,AF062317,AF062318,AF062319,AF062320,AF062321,AF062322,AF062323,AF062324,AF062325,AF062326,AF062327,AF062328,AF062329,AF062330,AF062331,AF062332,AF062333,AF062334,AF062335,AF062336,AF062337,AF062338,AF062339,AF062340,AF062341,AF062342,AF062343,AF062344,AI088791,AK292554,AL698868,BC010501,BC075795,BP217375,BT007333,CN431494,CR614298,CR749275,DB090596 NP_001078927,NP_001078928,NP_001078930,NP_001322,NP_001078936,NP_001078929,NP_001078931,NP_001078932,NP_001078935,NP_001078933,NP_001078937,NP_001078934,NP_001078938,AAR84236,EAW73785,EAW73786,EAW73787,EAW73788,EAW73789,EAW73790,EAW73791,EAW73792,AAC39802,AAC39803,AAC39804,AAC39805,AAC39806,AAC39807,AAC39808,AAC39809,AAC39810,AAC39811,AAC39812,AAC39813,AAC39814,AAC39815,AAC39816,AAC39817,AAC39818,AAC39819,AAC39820,AAC39821,AAC39822,AAC39823,AAC39824,AAC39825,AAC39826,AAC39827,AAC39828,AAC39829,BAF85243,AAH10501,AAH75795,AAP35997,CAH18130,O60716,Q68DU0,Q7KZJ3,Q96FS1 Hs.166011 CAS|CTNND|KIAA0384|P120CAS|P120CTN|p120|p120(CAS)|p120(CTN) cadherin-associated Src substrate|catenin delta-1|p120 catenin|p120(cas)|p120(ctn) protein-coding 1353744 CTNND2 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids long. These proteins can be divided into subfamilies based on the number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1 (MIM 601045), CTNND2, PKP1 (MIM 601975), PKP2 (MIM 602861), PKP4 (MIM 604276), and ARVCF (MIM 602269), have 10 armadillo repeats each (Bonne et al., 1998 [PubMed 9721216]).[supplied by OMIM] 1580863 15193146,19706687,20074565,20379614,9223106,9342840,19240061,19165527,18978817,18940311,18421076,18302937,17687028,16226102,15372022,15345747,12835311,12477932,11891774,11821434,11729199,11076863,10896674,10673328,10413599,10208590,10080919,10037471,9971746,9721216,9110174,9049630,8619474,10332026,20108168,21095009 1501 EU350953,NM_001332,AC003089,AC003954,AC004633,AC004648,AC005367,AC005610,AC010433,AC010626,AC113390,AC127460,CH471102,AB013805,AF035302,AK127257,AK226124,AK294420,AK296232,AK299300,BF512945,EU328348,U52351,U52828,U72665,U81004,U96136,NG_023544 ABY59658,NP_001323,AAB83940,EAX08053,EAX08054,EAX08055,BAA36163,AAB88185,BAG57669,BAG58953,BAG61314,ACA13456,AAB97957,AAB96357,AAB68599,AAD00453,AAC63103,Q9UQB3,AAI11838,BAG54466 Hs.314543 GT24|NPRAP OTTHUMP00000220687|OTTHUMP00000220689|OTTHUMP00000220690|T-cell delta-catenin|catenin delta-2|delta-catenin|neural plakophilin-related ARM-repeat protein|neurojungin protein-coding 1318250 CTNS cystinosis, nephropathic This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,1342442,1601022 20079424,20352457,17643777,17137217,16344560,15885099,15365816,12477932,12442267,12401840,12204010,12110740,11708862,11565547,11505338,11121245,10673275,10625078,10571941,10556299,10482956,10444339,10068513,9792862,20413906,15128704,9537412,16439594,7112129,17471495,15956064,11150305,18752449,11855931,12138135,19580442,19852576,19863563 1342442,1601022 1497 NM_004937,NM_001031681,NG_012489,AC027796,AC132942,AF112442,AF168787,CH471108,Y15924,AJ222967,AK292019,AK296178,AK297525,AK309044,AK309651,BC032850,BX369529,CA454595,CR542058,CR590621,CR595952,CR599302,DB026195 NP_004928,NP_001026851,AAD45630,AAF43102,EAW90494,EAW90495,EAW90496,CAA75882,CAA11021,BAF84708,BAG58913,BAG59928,AAH32850,CAG46855,O60931,Q6FGP9 Hs.187667 CTNS-LSB|PQLC4 cystinosin protein-coding 1351145 CTPL1 cataract, pulverulent (autosomal recessive, early-onset) 11179024 81863 1322315 CTPS CTP synthase The catalytic conversion of UTP to CTP is accomplished by the enzyme cytidine-5-prime-triphosphate synthetase. The enzyme is important in the biosynthesis of phospholipids and nucleic acids, and plays a key role in cell growth, development, and tumorigenesis. The region to which the CTPS gene has been mapped is the location of breakpoints involved in several tumor types [provided by RefSeq] 1580863 16179339,17353931,2113467,7981751,17681942,17463002,17081983,16710414,16097034,18600551,15489334,15324660,15302935,12477932,10064135,9373149,8125298,3355843,1959918,1783378,20739275 1503 NM_001905,AL391730,CH471059,AK130549,AK225899,AK297386,AK299122,AK303797,BC009408,BQ642049,CR599441,CR602579,CR608005,X52142,AK304817 NP_001896,CAH72797,EAX07192,EAX07193,BAG59827,BAG61176,BAG64752,AAH09408,CAA36386,P17812,BAH14260 Hs.473087 CTP synthase 1|CTP synthetase 1|OTTHUMP00000006323|UTP--ammonia ligase 1|cytidine 5'-triphosphate synthetase|cytidine 5-prime triphosphate synthetase protein-coding 1602693 CTPS2 CTP synthase II The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 19615732,15489334,14702039,12477932,15772651,10899599,17081983,16189514,16179339,20739275 56474 NG_013229,NM_019857,NM_175859,NM_001144002,AC073909,AL445467,CH471074,AF086422,AF226667,AK023549,AK024070,AK025654,AK125332,AK125348,AK309508,BC006256,BC034986,BX647712 NP_062831,NP_787055,NP_001137474,CAI40085,CAI40086,EAW98912,EAW98913,EAW98914,EAW98915,AAF91241,BAB14607,BAB14814,BAB15204,BAG54184,BAG54188,AAH06256,AAH34986,Q9H6Q0,Q9NRF8 Hs.227049 DKFZp686C17207|FLJ43358|MGC32997 CTP synthase 2|CTP synthetase 2|CTP synthetase isoform|CTP synthetase type 2|UTP--ammonia ligase 2|UTP-ammonia ligase|cytidine 5'-triphosphate synthetase 2 protein-coding 1322372 CTR9 Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) CTR9, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and PAF1 (MIM 610506) form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM] 18551993,17911113,17081983,16964243,15632063,15489334,20541477,15302935,15231748,12477932,12421765,8636124,8590280,16307923,18469135 9646 NM_014633,AC116535,CH471064,AK291794,BC014335,BC058914,D63875 NP_055448,EAW68557,EAW68558,BAF84483,AAH58914,BAA09925,Q6PD62 Hs.725151 KIAA0155|SH2BP1|TSBP|p150|p150TSP RNA polymerase-associated protein CTR9 homolog|SH2 domain binding protein 1 (tetratricopeptide repeat containing)|SH2 domain-binding protein 1|TPR-containing, SH2-binding phosphoprotein|sh2 domain binding protein 1 (tetratricopeptide repeat containing) protein-coding 731605 CTRB1 chymotrypsinogen B1 Alpha-chymotrypsin (EC 3.4.21.1) is one of a family of serine proteases secreted into the gastrointestinal tract as the inactive precursor chymotrypsinogen. The zymogen is activated by proteolytic cleavage by trypsin (PRSS1; MIM 276000).[supplied by OMIM] 2303363,1580863 2917002,15489334,14702039,12477932,10713514,8186414,6983488,2789125,2456616,2435303,2071140,511932,15012588,19844255 2303363 1504 BT007356,NM_001906,AC009078,CH471114,AK124403,AW338596,BC005385,BX497259,CA946996,M24400 NP_001897,EAW95660,AAH05385,AAP36020,AAA52128,P17538 Hs.610926 CTRB|FLJ42412|MGC88037 chymotrypsinogen B|chymotrypsinogen b protein-coding 1347928 CTRB2 chymotrypsinogen B2 15342556,12477932,9373149,8186414,8125298,2917002 440387 NM_001025200,AC009078,CH471114,AK131056,AK225933,AK291822,BC073145,BP324399 NP_001020371,EAW95661,BAF84511,AAH73145,Q6GPI1 Hs.632211 chymotrypsin B2|chymotrypsinogen B2 protein-coding 1318112 CTRC chymotrypsin C (caldecrin) This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq] 1580863 8635596,19404200,15489334,19407484,19096130,18172691,18059268,17592142,16710414,12477932,9538241,2365696,2093478,8718849,9635374,20625975 11330 NG_009253,AL031283,CH471167,AK289447,BC015118,BC059779,CR749296,S82198,Y13697,NM_007272 NP_009203,CAB77355,EAW51725,EAW51726,BAF82136,AAH15118,CAH18151,AAB47104,CAA74031,Q68DR9,Q99895 Hs.631869 CLCR|ELA4 caldecrin|chymotrypsin-C|elastase 4|elastase IV|serum calcium decreasing factor protein-coding 1346038 CTRL chymotrypsin-like 1580863 19494363,9065485,19126871,15489334,12477932,12231569,9373149,8812482,8268911,8267879,8125298,17207965 1506 BC039716,NM_001907,AC040162,CH471092,X71874,AK223172,BC063475,CR598482,X71877 NP_001898,EAW83188,EAW83189,CAA50710,BAD96892,AAH39716,AAH63475,CAA50711,P40313,Q53FV9,Q8IUW0,Q8NF36,ADQ32564 Hs.654546 CTRL1|MGC70821 chymotrypsin-like protease CTRL-1 protein-coding 1349342 CTS1 carpal tunnel syndrome 1 1507 1319205 CTSA cathepsin A This gene encodes a glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599169,1580863 3136930,16538002,16344560,16263699,15785934,15489334,14718574,14702039,12665801,12649068,12505983,12477932,11780052,10944848,10207930,9636645,9603439,9501080,9105659,8968752,8910459,1387645,8591035,8514852,3107551,17353931,18029348,8198123,8068159,8053688,6796775,6418007,3922758,3149149,3102233,3084261,2244901,2148053,2071143,1907800,1907282,1756715,1694176,1605251,19666471,19954752 1599169 5476 NM_001127695,NG_008291,AF491871,AL008726,CH471077,AB209705,AF086236,AK055177,AK097786,AK172808,AK304536,AK307701,AK312898,BC000597,BC093009,CR590686,CR595889,NM_000308,CR596957,CR600724,CR605948,CR607706,CR608418,CR609128,CR609734,CR611107,CR618673,CR621669,CR624913,CR625597,CR626192,CR626418,DA029446,M22960,NM_001167594 NP_000299,NP_001121167,AAM09560,CAA15501,CAI20248,CAI20249,CAI20250,EAW75788,EAW75789,BAD92942,BAG65336,BAG35745,AAH00597,AAH93009,AAA36476,P10619,Q59EV6,Q5JZG9,Q5JZH0,Q8TD81,ABM82861,ABM86048,NP_001161066 Hs.609336 GLB2|GSL|NGBE|PPCA|PPGB OTTHUMP00000031781|beta-galactosidase 2|beta-galactosidase protective protein|carboxypeptidase C|carboxypeptidase L|lysosomal protective protein|protective protein cathepsin A|protective protein for beta-galactosidase (galactosialidosis) protein-coding 734437 CTSB cathepsin B The protein encoded by this gene is a lysosomal cysteine proteinase composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer disease, the most common cause of dementia. Overexpression of the encoded protein, which is a member of the peptidase C1 family, has been associated with esophageal adenocarcinoma and other tumors. At least five transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 2315501,2315508,2315510,2315521,2315524,2315571,2315615,2315504,2315515,2315534,2315605,2306495,2315520,2315527,2315528,2315726,2315502,2315513,2315516,2315523,2315531,2315517,2315506,1342442,734853,734852,1580863 18616803,18718938,19434518,19454696,19615732,19661440,19692168,19700239,19915865,19930869,20008285,20042316,6203523,8083219,1645961,3463996,16130169,19414800,19331819,19040356,19004543,18949742,18760860,18714186,18706099,18598236,18566436,18566385,18543249,18314113,18296264,18163891,17991740,17990360,17982689,17726009,17724614,17519890,17507477,17504810,17081065,17064696,16914553,16913838,16894574,16733801,16709808,16534247,16492714,16381007,16364318,16315320,16303743,16077201,16051222,16034129,15832773,15831716,15816632,15807897,15799821,15710602,15679122,15512772,15489334,15274632,15262981,15255544,15122332,15100281,15016552,14984956,14730346,18472965,14729603,14702039,18515357,14503883,8112600,8014475,7890620,7718586,7622042,7509303,6351842,3972105,3542996,3010323,2476070,2061332,1996959,1984484,1900515,1868826,1637335,1597471,1577456,1326552,417724,11162551,16169070,12893746,12887051,12726991,12677446,12643545,12589965,12581740,12477932,12437120,12437117,12201820,12186841,12185082,12102727,12086583,12072442,12057992,11932257,11815600,11746262,11514663,11513559,11435427,11241311,11228542,11139332,11134363,11115496,11016923,10876156,10849756,10777578,10512713,10395917,10353845,9928950,9776083,9770500,9733783,9632704,9585570,9582368,9539769,9412840,9360997,9299326,12926111,9295331,9076588,8635854,8617355,20563251,20180636,20302512,19913121,20628086,20536394,20699092,20424577,20661471 2315501,2315508,2315510,2315521,2315524,2315571,2315615,2315504,2315515,2315534,2315605,2306495,2315520,2315527,2315528,2315726,2315502,2315513,2315516,2315523,2315531,2315517,2315506,1342442,734853,734852 1508 NM_001908,NM_147781,NM_147783,NM_147782,NM_147780,NG_009217,AC025857,AC069185,AY082426,AY082427,CH471157,AK075393,AK092070,AK097384,AK130184,AK290239,AK296845,AK297687,AL543654,BC010240,BC095408,BG770805,BM008741,BX647765,BX647952,BX648239,CB997355,CR590308,CR591985,CR592456,CR592977,CR593765,CR594217,CR594314,CR594660,CR594854,CR595173,CR596339,CR596852,CR598671,CR601520,CR602375,CR603066,CR603790,CR605942,CR606913,CR607589,CR607736,CR608531,CR608828,CR609102,CR609348,CR609540,CR611342,CR612536,CR612757,CR613583,CR613700,CR614817,CR615369,CR615689,CR616354,CR617189,CR619827,CR621067,CR622240,CR623525,CR624308,CR626324,L16510,M13230,M14221,Y18460 NP_001899,NP_680091,NP_680093,NP_680092,NP_680090,AAL99368,AAL99369,EAW65630,EAW65631,EAW65632,EAW65633,EAW65634,EAW65635,EAW65636,BAG52127,BAG52477,BAG53460,BAF82928,BAG59411,BAG60046,AAH10240,AAH95408,CAI46053,AAC37547,AAA52125,AAA52129,CAA77178,P07858,Q5HYG5,Q6LAF9,Q8TAC7 Hs.520898 APPS|CPSB APP secretase|amyloid precursor protein secretase|cathepsin B|cathepsin B1|cysteine protease protein-coding 736291 CTSC cathepsin C The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599638,1599639,1599640,1599645,1599651,1599652,1599653,1580863 1586157,20236208,20797317,9092576,7665576,18841559,18809751,18307834,18294227,17976006,17943190,17652201,17535802,17020538,16381901,15991336,15985311,15585850,15489336,15146197,15111626,15108292,14974080,12857359,12809647,12477932,12358155,12139965,12137938,12112662,12083812,12080079,11914041,11886537,11726493,11327826,11230166,11180601,11180012,11158173,11106356,11076863,11015218,10756096,10662808,10662807,10593994,10581027,9507095,9373149,9272739,8125298,7649281,19816003,16712791,20359428 1599638,1599639,1599640,1599645,1599651,1599652,1599653 1075 NM_148170,NM_001114173,NG_007952,AC011088,CH471185,U79415,AA011305,AF234263,AF234264,AF254757,AF525032,AF525033,AI821972,AK223038,AK292117,AK296190,AK311923,NM_001814,AU076460,BC008059,BC023559,BC054028,BC100891,BC100892,BC100893,BC100894,BC107770,BC109386,BC110071,BC113850,BC113897,BM997817,BX459226,BX537913,CB114425,CN368896,CR593092,CR594896,CR595572,CR595605,CR597937,CR598242,CR601206,CR601562,CR606590,CR609574,CR610023,CR610221,CR612418,CR612501,CR612734,CR613100,CR614340,CR615573,CR616227,CR616799,CR616827,CR617349,CR618171,CR624445,CR625368,X87212,CR601485 NP_001805,NP_680475,NP_001107645,EAW59363,EAW59364,AAC51341,AAL48191,AAL48192,AAL48195,AAQ08887,AAQ08888,BAD96758,BAF84806,BAG58920,Q7Z5U7,CAL38498,AAI46693,AAH54028,AAI00892,AAI00893,AAI00894,AAI00895,AAI09387,AAI10072,AAI13851,AAI13898,CAD97897,BAG34864,CAA60671,P53634,Q2HIY8 Hs.128065 CPPI|DPP1|DPPI|HMS|JP|JPD|PALS|PLS DPP-I|cathepsin J|dipeptidyl peptidase 1|dipeptidyl peptidase I|dipeptidyl transferase|dipeptidyl-peptidase I protein-coding 1351014 CTSD cathepsin D This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq] 1643198,1358532,1358533,1580863 19913121,20597865,20628086,19221643,19115690,19109932,19061927,18977241,18830724,18702517,18566385,18566016,18559512,18494001,18431031,18426579,18396902,18387691,18367545,18307033,18296260,18248894,18202773,18177262,17875703,17601350,17532541,17395004,17340625,17289576,17284061,17188016,17176069,17112520,17081065,17032648,16850161,16784755,16709808,16685649,16652347,16608402,16543533,16417614,16396496,16354654,16335952,16331270,16263712,16263699,16127101,16081416,16046058,15896324,15862967,15843343,15739123,15668295,15489334,15318816,15258139,15211070,15211064,15192082,15168727,15158911,15081423,15003956,14767531,14702039,12970159,12826741,12811635,12782632,12782337,12754519,12651610,12643545,12556904,12477932,12185597,12151789,12147324,12140763,12083803,12011767,11906282,11840502,11786931,11780226,11779865,11687971,11581410,11436125,11341921,11304834,11264868,11258665,11095076,10986284,10931940,10876156,10849758,10748089,10716266,10605825,10508159,10504270,9731700,9275067,9076588,8943232,8930981,8671230,8467789,8419924,8393577,8262386,8106429,7935485,7657720,7547509,7523115,6236213,3988746,3665421,3588310,3261170,2736531,2180427,2069717,2013314,1939080,1883350,1734961,1522590,938470,10623764,15989967,16341674,3927292,14718574,19487283,19383337,20430722,19494521,19571726,19802014,19828951,19854241,19919557,19926167,19950226,20071328,20083556,20125193,20666745,11198280,20385381,20855565,20926008 1643198,1358532,1358533 1509 NG_008655,AC068580,CH471158,L12980,M63138,S52557,S74689,AK130178,BC001574,BC016320,BM762986,BT006910,BT020155,CR456947,CR597228,CR609839,CR612133,CR613410,CR623521,M11233,X05344,NM_001909 EAX02461,EAX02462,EAX02463,AAA16314,AAA51922,AAD13868,AAD14156,AAH16320,AAP35556,AAV38957,CAG33228,AAB59529,CAA28955,P07339,ABM84473,ABM84804,NP_001900 Hs.654447 CLN10|CPSD|MGC2311 OTTHUMP00000196039|OTTHUMP00000198692|cathepsin D|cathepsin d (lysosomal aspartyl protease)|ceroid-lipofuscinosis, neuronal 10|lysosomal aspartyl peptidase|lysosomal aspartyl protease protein-coding 736046 CTSE cathepsin E The protein encoded by this gene is a gastric aspartyl protease that functions as a disulfide-linked homodimer. This protease, which is a member of the peptidase C1 family, has a specificity similar to that of pepsin A and cathepsin D. It is an intracellular proteinase that does not appear to be involved in the digestion of dietary protein and is found in highest concentration in the surface of epithelial mucus-producing cells of the stomach. It is the first aspartic proteinase expressed in the fetal stomach and is found in more than half of gastric cancers. It appears, therefore, to be an oncofetal antigen. Transcript variants utilizing alternative polyadenylation signals and two transcript variants encoding different isoforms exist for this gene. [provided by RefSeq] 7789521,8765029,2674141,7983070,19172291,18996084,18006832,17947645,17888866,15845357,15699105,15489334,15342244,14769879,12843568,12631277,12531480,12477932,11337467,11322887,9502222,8759606,8491674,8346912,2369841,2334440,2226872,1959628,1794985,1370478,195962,8457383,16169070,20600629 1510 NM_001910,NM_148964,BX571818,CH471067,M84424,AJ250716,AJ250717,AK292057,AK298069,AU100136,BC042537,J05036 NP_001901,NP_683865,CAH73264,CAH73265,EAW91592,EAW91593,AAA52300,CAB82849,CAB82850,BAF84746,BAG60360,AAH42537,AAA52130,P14091 Hs.644082 CATE cathepsin E|erythrocyte membrane aspartic proteinase|slow-moving proteinase protein-coding 1317809 CTSF cathepsin F Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq] 1580863 9822672,16963053,15989693,15489334,15184381,12477932,10876093,10748235,10661872,10362521,10318784,10198209,19416921,19913121,20628086 8722 NM_003793,AF132894,AP002748,CH471076,AF071748,AF071749,AF088886,AF136279,AJ007331,AK313657,AL137742,BC011682,BC013359,BC036451,CR541680 NP_003784,AAD41790,EAW74547,EAW74548,AAC78838,AAC78839,AAD26616,AAF13146,CAB42883,BAG36411,CAB70900,AAH11682,AAH36451,CAG46481,Q6FHS1,Q9UBX1,ABM84171 Hs.11590 CATSF cathepsin F protein-coding 1317010 CTSG cathepsin G The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq] 1580863 20331476,19913121,20628086,11961105,8194606,2318847,2501794,2164060,1873479,1861080,1452887,1387511,20589323,20800603,2569462,19528350,19250736,19056482,19036358,18835135,18586676,18217133,17653609,17418861,16977463,16444434,16317101,16034099,15967795,15650747,15489334,15385470,15140022,15131125,15100291,14737102,14688365,12784398,12531874,12524437,12504904,12477932,11986950,11945165,11928814,11920276,11747312,11557685,11536009,11520793,11520773,11389039,11307827,11259672,11241273,10978167,10899625,10512690,9718313,9698370,9565572,9536127,9412840,9373149,9337538,8896442,8849841,8454293,8408036,8400294,8125298,8090757,7936190,7593196,7517206,6294088,3911778,3799965,3304423,2681419,2616953,11502364,11907569,19578796,19620298,19910052,20056178 1511 NM_001911,AL136018,CH471078,J04990,AI272833,AK225914,BC014460,CR456807,CR541704,M16117 NP_001902,EAW66006,AAA51919,AAH14460,CAG33088,CAG46505,AAA52126,P08311,ABM83993,ABM87319 Hs.421724 CATG|CG|MGC23078 cathepsin G protein-coding 735454 CTSH cathepsin H The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19913121,20628086,20647273,3342889,2588347,2587265,2486008,20881085,2849458,6203523,19073967,18978792,18977241,18949742,18676680,18216060,17601350,15646835,15489334,14766755,14662023,14515996,12615673,12589965,12581647,12477932,12203716,12034564,11796715,11514663,11136537,11134363,10395917,9076588,7821789,6184075,17500053,18029348,19170196,19404922,19430480,19625176,19692168,20203524 1512 NM_004390,NG_009614,AC011944,CH471136,AF426247,AF426248,AI057198,AK026152,AK130158,AK309491,AK314698,AL110099,BC002479,BC018821,BG775606,CR456881,CR596280,CR613401,CR749582,D28436,X07549,X16832,Y18461 NP_004381,EAW99143,AAL23961,AAL23962,BAG37247,AAH02479,CAG33162,CAH18374,BAA05802,CAA30428,CAA30429,CAA34734,CAA77179,P09668,Q68D46,Q6IBC3,Q6LAF8,Q96NY6,ABM81609,ABM84698 Hs.148641 ACC-4|ACC-5|CPSB|DKFZp686B24257|MGC1519|minichain N-benzoylarginine-beta-naphthylamide hydrolase|aleurain|cathepsin B3|cathepsin BA|cathepsin H protein-coding 1342646 CTSJ cathepsin J 337936 AF136272 734172 CTSK cathepsin K The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. This gene may be subject to RNA editing. [provided by RefSeq] 1342442,734856,1601025,1580863 19913121,20628086,20628624,10491211,10048321,9893980,9548757,9529353,9405598,9276160,9143491,9033587,9028530,8938428,8703060,8647860,8585423,7929457,7805878,7576232,7492318,16169070,20430722,20450492,20727023,18053985,17991740,17882010,17728092,17683065,17397052,17230547,17227755,16946716,16912123,16831915,16774752,16354158,16344560,16337236,15929988,15878337,15837295,15826870,15797245,15737607,15489334,15304486,15161653,14753734,14684825,14645229,12887056,12652657,12568399,12504904,12492488,12477932,9143502,17889653,7818555,19453261,19433310,19428782,19371798,19338743,19194656,19060845,18979635,18949742,18765527,18692071,18664521,18664495,18511517,18368130,18163891,12125807,12081494,12039963,11733367,10878663,10849755,10719280,19396149,19446361,19469903,19674475,19700761,19750481,19800993,19886543,20305575,21086906,17207965 1342442,734856,1601025 1513 AU119985,AW631268,DA251123,NM_000396,NG_011848,AL355860,AL356292,CH471121,AK130134,AK308229,AK312880,AU118043,AY429530,BC016058,CR541675,CR541719,CR594213,CR598542,CR601270,CR606929,CR612492,CR612623,CR614321,CR624019,CR626142,CR626559,S79895,U13665,U20280 NP_000387,CAI12795,CAI12796,CAI13649,EAW53515,EAW53516,AAH16058,CAG46476,CAG46520,AAB35521,AAA65233,AAA95998,P43235,Q6FHN2,Q6FHS6,ADQ31724 Hs.632466 CTS02|CTSO|CTSO1|CTSO2|MGC23107|PKND|PYCD cathepsin K|cathepsin O|cathepsin O1|cathepsin O2|cathepsin X protein-coding 736036 CTSL1 cathepsin L1 The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 2315546,2315571,2315576,2315597,2315622,2315625,2315605,1304337,1641826,2315595,2315726,2315588,2315547,2315555,2315524,1342442,1580863 19096818,19915865,19924101,19958782,19959474,20075068,8419312,17889653,14718574,19550400,19291794,18971274,18658137,18619973,18616803,18495127,18450756,18366346,18221013,18163891,17928356,17643114,17574778,17561110,17519890,17227755,16918298,16913838,16740135,16565075,16433682,16354158,16335952,16303743,15982660,15832773,15816632,15665831,15512772,15498563,15489334,15454886,15318816,15255544,15100281,15099520,14702039,12941783,12926111,12921779,12818188,19005484,12809493,12754519,12748383,12504904,12492488,12477932,12437119,12437117,12137950,11978977,11801256,11777924,20926012,20881085,11517935,11514663,11435427,11327826,11278902,10849756,10716919,10428479,10395917,10218831,10022822,9918848,9837884,9733783,9632704,9585570,9548757,9468501,9141479,9076588,8896443,8889548,8666891,7340337,3550705,3545185,11771045,11767948,3490478,3421948,3342889,2835398,2275556,1939080,1551416,116880,19663777,20302512,20497254 2315571,2315576,2315597,2315622,2315625,2315605,1304337,1641826,2315595,2315726,2315588,2315547,2315555,2315524,1342442 1514 NM_001912,NM_145918,AL160279,CH471089,M20496,AF217997,AF304301,AF467444,AK055599,AK075100,AL832167,AW270438,BC012612,BC142983,BI824449,BI829385,BM680778,BX537395,BX647101,BX647102,BX647413,BX647434,BX647435,BX648848,BX648849,BX649140,CR457053,CR590033,CR590181,CR590618,CR590723,CR591819,CR592569,CR593015,CR594363,CR595008,CR595268,CR595891,CR596740,CR599034,CR600244,CR601495,CR601498,CR601598,CR602859,CR603547,CR603622,CR603807,CR604305,CR605581,CR605661,CR606260,CR606674,CR606843,CR607254,CR607374,CR607547,CR607586,CR608495,CR609955,CR610633,CR611865,CR612043,CR612596,CR613254,CR613528,CR614675,CR615255,CR616359,CR616495,CR616991,CR617897,CR618528,CR618895,CR619050,CR619793,CR620611,CR620702,CR620883,CR620973,CR623879,CR624025,CR624043,CR625678,CR626403,DN993009,X05256,X12451,Y18462,CR608477,GN344049,GN344051 NP_001903,NP_666023,CAI16307,CAI16308,EAW62731,EAW62732,EAW62733,EAW62734,EAW62735,EAW62736,AAA66974,AAG17239,AAM89516,AAQ05021,BAG52066,AAH12612,AAI42984,CAD97637,CAG33334,CAA28877,CAA30981,CAA77180,P07711,Q5K630,Q5T8F0,Q6LAF7,Q8NG13,Q9HBQ7,ABM83856,ABM87178,CAY55960,CAY55961 Hs.726015 CATL|CTSL|FLJ31037|MEP cathepsin L|cathepsin L1|cathepsin l|major excreted protein protein-coding 1344069 CTSL2 cathepsin L2 The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. [provided by RefSeq] 1580863 9563472,17889653,18163891,17869649,17516850,16565075,15679121,15489334,15192101,15164053,12925692,12648222,12477932,11027133,10382972,10029531,9727401,20536394 1515 NM_001333,AB019534,AL445670,CH471105,CS265690,AB001928,AF070448,AK310645,AK310740,AK312806,AY358641,BC023504,BC110512,Y14734,AW444458,NM_001201575 NP_001324,BAA34365,CAI15053,EAW58831,EAW58832,CAJ78377,BAA25909,AAC23598,BAG35664,AAQ89004,AAH23504,AAI10513,CAA75029,O60911,NP_001188504 Hs.660866,Hs.610096 CATL2|CTSU|CTSV|MGC125957 cathepsin L2|cathepsin L2, preproprotein|cathepsin U|cathepsin V protein-coding 1604146 CTSL3 cathepsin L family member 3 19663681,12477932 392360 AL160279,CH471089,AJ851862,NR_027917 EAW62737,CAH65460,Q5NE16,AAI60188 Hs.690450 HCTSL-s pseudo 1343958 CTSLL1 cathepsin L-like 1 7713509 118945 NG_009858,AL355334,L07772 CTSLL|CTSLL1 pseudo 1346453 CTSLL2 cathepsin L-like 2 7713509 1517 BX547991,L25628,AK309109,NR_033407 Hs.568350 CTSLL2|FLJ99150 pseudo 3563914 CTSLL3 cathepsin L-like 3 7713509 644021 AL731733,NG_016830 CTSLL3 pseudo 1349396 CTSLL4 cathepsin L-like 4 19663681 414214,644496 AL589794,NG_021158 CTSLL4|bA564C4.3 pseudo 1346149 CTSLL5 cathepsin L-like 5 643587 AL603982,NG_006122 CTSLL5|bA342C24.4 pseudo 1342791 CTSLL6 cathepsin L-like 6 15164054 414210,642413 AL512662,NG_021157 A6NFJ7 CTSLL6|bA479O17.1 pseudo 1354146 CTSLL7 cathepsin L-like 7 414211,100133189 AL391137,NG_021156 CTSLL7|bA144G6.6 pseudo 1349560 CTSM cathepsin M 337937 AY014777 1343138 CTSO cathepsin O The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq] 1580863 19786962,7929457,18029348,15489334,12477932,9790772,7805878,17207965 1519 AC093830,CH471056,AK300112,AK308323,AK312354,BC049206,NM_001334,BG617165,BI834113,BQ006443,X77383,AC216823 NP_001325,EAX04883,BAG61907,AAH49206,CAA54562,P43234,ADQ33131 Hs.75262 CTSO1 cathepsin O protein-coding 1353735 CTSQ cathepsin Q 632504 632504 337942 AF187323 1345891 CTSR cathepsin R 337990 AK005429 1350928 CTSS cathepsin S The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may participate in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The encoded protein can function as an elastase over a broad pH range in alveolar macrophages. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq] 1580863 19913121,20356901,20628086,19404922,19553543,19593952,19700239,20164293,9548757,9545324,9524075,9164868,9143502,9099979,9076588,8706894,8083219,7890620,7717452,7575468,2044774,1377692,19849712,20881085,1373132,8157683,18029348,14718574,19487544,19336475,19104823,19101991,18977241,18957408,18565099,18410260,17878156,17622942,17601350,17227755,17075137,16839849,16825321,16710414,16550604,16410454,16394095,16354158,16338279,16140306,15489334,14966190,12819022,12748383,12742663,12643447,12477932,12437117,12164923,11884425,11856830,11710834,11435427,11241311,11134363,11115496,10852705,10721671,10395917,9876921,20180636,20045715,21038029 1520 AK301472,NM_001199739,NM_004079,AL356292,CH471121,U07369,U07370,U07371,U07372,U07373,U07374,AK024855,AK226095,AK314482,BC002642,BQ006623,CR541676,CR592748,CR607339,CR612707,CR613968,CR623699,CR626534,M86553,M90696,S93414 BAG62991,NP_001186668,NP_004070,CAI13657,EAW53517,EAW53518,EAW53519,AAB60643,BAG37086,AAH02642,CAG46477,AAA35655,AAC37592,AAB22005,P25774 Hs.181301 FLJ50259|MGC3886 cathepsin S protein-coding 1319657 CTSW cathepsin W The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq] 1580863 9823953,19100676,15489334,15358123,15340161,12477932,12437118,11490002,10849754,10716634,10362521,9675123,9108299 1521 NM_001335,AF015954,AF055903,AP001201,CH471076,AF013611,BC035637,BC048255,BI833187,BM996548,CR621885 NP_001326,AAB82457,AAC32181,EAW74463,EAW74464,AAB82449,AAH48255,P56202 Hs.416848 LYPN cathepsin W|lymphopain protein-coding 1352898 CTSZ cathepsin Z The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq] 1580863 9642240,11256614,18977241,18420963,17601350,17065156,16381901,15680921,15489336,15489334,12477932,11780052,11076863,11030415,10760573,10745011,10656802,10653163,10653162,9738465 1522 NM_001336,AF136274,AF136275,AF136276,AL109840,CH471077,AF009923,AF073890,AF136273,AK310046,AK314931,BC025419,BC042168,BT019915,NG_023300 Q9UBR2,CAL37546,NP_001327,AAF13148,CAC09370,EAW75448,EAW75449,EAW75450,AAC63141,AAC61477,AAF13145,BAG37437,AAH42168,AAV38718,Q5U000 Hs.252549 CTSX|FLJ17088 cathepsin P|cathepsin X|cathepsin Z|preprocathepsin P protein-coding 1352162 CTTN cortactin This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Two splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq] 1580863 9054437,19242064,18991334,18931703,18776588,18678675,18607838,18521921,18406052,18403644,18387954,18342393,18039661,17959782,17702746,17643370,17627624,17576929,17562703,17510372,17483334,17451412,17449030,17292556,17178864,20805359,17056576,17005439,16964243,16937268,16905744,16825658,16825425,16815198,16652145,16636290,16611226,16527272,16489553,16442522,16416022,16385081,16344560,16280034,16261345,16212419,16076899,16051170,15951569,15710041,15618548,15592455,15579908,15574754,15464244,15302935,15263018,15242766,15169891,15159385,15144186,15123640,15064355,15056655,14702039,13129922,12952985,12913069,12835311,12672817,12620186,12522270,12477932,12453877,12419186,12408982,12176742,12176354,12151401,12060669,11988077,11830518,11689006,11607842,11439336,11389697,11018051,10921917,10537323,9823470,9813110,9792678,9748248,9742101,9722593,9553134,9373149,8636079,8474448,8125298,7685625,7680654,1532244,11431473,15719014,17081983,16169070,18850005,19146815,20363754,15842855,17318189,18334127,19207554,19219613,19457864,19589785,19684620,19885549,19885550,19898426,7566098,20053363,10760273 2017 NM_138565,AB036705,AJ288897,AP000487,CH471076,AK023333,AK091778,AK222613,AK291097,AK304582,AU124856,BC008799,BC033889,CR600359,DA716772,M98343,NM_005231,AA325227,NM_001184740 NP_005222,NP_612632,BAD06416,EAW74766,EAW74767,EAW74768,EAW74769,EAW74770,BAG52416,BAD96333,BAF83786,BAG65370,AAH08799,AAH33889,AAA58455,Q14247,Q53HG7,Q76MU0,Q8N707,Q96H99,ACE87710,ACE87023,NP_001171669 Hs.596164 EMS1|FLJ34459 1110020L01Rik|amplaxin|ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)|oncogene EMS1|src substrate cortactin protein-coding 1353355 CTTNBP2 cortactin binding protein 2 This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq] 9813110,18782753,15489334,15364959,14702039,12853948,12690205,12477932,11707066,11214970,19615732,20379614 83992 AC004240,AC007568,CH236947,CH471070,DQ354388,DQ354389,DQ354390,DQ354391,DQ356257,DQ356258,DQ356259,DQ356260,DQ356261,DQ356262,NM_033427,DQ388141,DQ388142,DQ388143,DQ388144,DQ388145,AB051545,AF377960,AK091548,AK096565,AK308081,AL137685,BC019644,BC106000,DQ356263,DQ356264,DQ388128,DQ388129,DQ388130,DQ388131,DQ388132,DQ388133,DQ388134,DQ388135,DQ388136,DQ388137,DQ388138,DQ388139,DQ388140 NP_219499,AAC04501,EAL24352,EAW83532,EAW83533,ABC79049,ABC79051,ABC79053,ABC79055,ABC87052,ABC87054,ABC87056,ABC87058,ABC87060,ABD72208,ABD72210,ABD72212,ABD72214,ABD72216,BAB21849,AAL32176,BAC04818,AAI06001,Q20BG7,Q20BG9,Q20BI7,Q2I096,Q2I0A6,Q8N8L8,Q8WZ74,ABC87064,ABC87066,ABD72182,ABD72184,ABD72186,ABD72188,ABD72190,ABD72192,ABD72194,ABD72196,ABD72198,ABD72200,ABD72202,ABD72204,ABD72206,ABC87062 Hs.592285 C7orf8|CORTBP2|FLJ34229|KIAA1758|MGC104579|Orf4 OTTHUMP00000196639|cortactin-binding protein 2 protein-coding 1607020 CTTNBP2NL CTTNBP2 N-terminal like 11256614,18029348,16964243,16710414,16381901,16344560,15489336,15489334,15345747,15302935,14702039,12477932,11076863,10718198,18782753,19615732 55917 NM_018704,AL354760,AL450407,CH471122,AK022544,AK023340,AL359565,AL598321,BC016029,BE645464,DA238082,DB236769,AK055261 NP_061174,CAI22307,CAI22308,EAW56515,EAW56516,EAW56517,BAG51087,CAB94870,AAH16029,Q9NPX3,Q9P2B4,CAL38429,CAL38646 Hs.725947 DKFZp547A023|FLJ13278 CTTNBP2 N-terminal-like protein|OTTHUMP00000012855 protein-coding 1602450 CTU1 cytosolic thiouridylase subunit 1 homolog (S. pombe) 19017811,16964243,15489334,12477932,20877624 90353 NM_145232,AC011473,AY279382,CH471135,AK291173,BC009037,BX440723,CR597220,CR608929 NP_660275,AAP42277,EAW71984,BAF83862,AAH09037,Q7Z7A3 Hs.148425 ATPBD3|MGC17332|NCS6 ATP binding domain 3|ATP-binding domain-containing protein 3|cancer-associated gene protein|cancer-associated protein|cytoplasmic tRNA 2-thiolation protein 1|cytoplasmic tRNA adenylyltransferase 1 protein-coding 1604165 CTU2 cytosolic thiouridylase subunit 2 homolog (S. pombe) 19017811,12477932 348180 NM_001012762,AC138028,CH471184,AK299521,BC021056,BC021829,BC044951,BC063512,BC080540,BC108659,BC121805,NM_001012759,BC157881,BM554780,BQ430809,CR589988,CR592449,CR597995,CR601936,CR602695,BC125269 NP_001012777,NP_001012780,EAW66775,EAW66776,EAW66777,EAW66778,EAW66779,EAW66780,BAG61472,AAH80540,AAI08660,AAI21806,AAI25270,AAI57882,Q2VPK5 Hs.592074 C16orf84|MGC131681|MGC148063|MGC148064|NCS2|UPF0432 cytoplasmic tRNA 2-thiolation protein 2 protein-coding 1353903 CTXN1 cortexin 1 15489334,12477932,8336151 404217 NM_206833,AC010336,CH471139,AK098834,BC024148,BC062702 NP_996664,EAW68956,AAH62702,P60606 Hs.657978 CTXN|FLJ25968 cortexin-1 protein-coding 1351200 CTXN2 cortexin 2 399697 BK004876 1604412 CTXN3 cortexin 3 19023125,17786280,16344560,12477932 613212 NM_001048252,NM_001127385,AC022118,AB219764,AB219832,BC071790,BC147012,DA131605,DA623980 NP_001041717,NP_001120857,BAE06183,BAE06184,AAI47013,Q4LDR2 Hs.66194 KABE cortexin-3|kidney and brain-expressed protein protein-coding 68502 CUBN cubilin (intrinsic factor-cobalamin receptor) Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq] 62401,61796,1599655,1580863 10552972,10080186,9478979,11994745,19161160,18791690,18448595,17979745,17487979,17124247,16303743,15736970,15616221,15342556,15164054,14576052,12687456,11856751,11788601,21116278,15583024,15951480,20852008,20855565,11717447,11595644,11278724,10887099,10811843,10371504,10037728,9691015,9572993,9334227,8510165,11606717,19913121,20615890,20628086,16385451,19197348,19303062,19366958,19710015,19878569,20237569,20379614,20398757 62401,61796,1599655 8029 NM_001081,NG_008967,AC067747,AF243082,AL365215,AL596445,AL731551,CH471072,AB209880,AF034611,AF086456,AK074536,AK075228,AK308290,AK309623,AK310404,BP270790,BP271329,EF444970 NP_001072,AAK61829,CAH73630,CAH72450,CAI40246,CAI40247,EAW86221,BAD93117,AAC82612,BAG51968,BAG52089,O60494,Q59ED1,Q5JQ33,Q7LC53,Q96RV0,ACA05973,ACA05974 Hs.166206 FLJ90055|FLJ90747|IFCR|MGA1|gp280 460 kDa receptor|cubilin|cubilin precursor variant 1|cubilin precursor variant 2|intestinal intrinsic factor receptor|intrinsic factor B12-receptor|intrinsic factor-cobalamin receptor|intrinsic factor-vitamin B12 receptor protein-coding 1349850 CUEDC1 CUE domain containing 1 15489334,15231748,14702039,12477932,20098747,20802204 404093 AC015845,CH471109,NM_017949,AK000746,AK000977,BC056882,CR627470 NP_060419,EAW94498,EAW94499,EAW94500,EAW94501,BAA91357,BAA91452,AAH56882,CAH10672,Q6AHX0,Q9NWM3 Hs.46679 DKFZp547L163|FLJ20739 CUE domain-containing protein 1 protein-coding 1317669 CUEDC2 CUE domain containing 2 737633 17347654,16341674,16189514,15489334,15164054,12477932,16385451 737633 79004 NM_024040,AL121928,CH471066,CS072312,AB025425,AB232358,AF086406,BC000262,BF002772,BM756951,CR592558,CR611545,CR619733,CR626050,CX165866 NP_076945,CAC08403,EAW49696,EAW49697,EAW49698,CAI93450,BAB87809,BAE19942,AAH00262,Q9H467 Hs.500874 C10orf66|MGC2491|bA18I14.5 CUE domain-containing protein 2 protein-coding 1317078 CUGBP1 CUG triplet repeat, RNA binding protein 1 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20603324,10893231,14726956,8948631,19106619,19047369,18570922,18243120,18164289,18039683,17936705,17854664,17531403,16946708,16601207,16169070,15756469,15489334,15099703,15082764,14759258,14702039,12799066,12477932,11686919,11564876,11158314,11124939,10536163,10446244,9371827,8912635,8789448,14657503,15546872,20547756,16341674,16344560,19553194,19615732,20051426,20227387,20935630 10658 NM_198700,NM_001025596,AC090559,CH471064,AB210019,AF248648,AF267533,AF267534,AJ007988,AK054655,AK056024,AK304430,NM_006560,AK307679,BC031079,BC036782,CB960956,CR614032,U63289,BM737883,DA217269,DA320861,DB162286,NM_001172639,NM_001172640,AK057016 NP_006551,NP_941989,NP_001020767,EAW67906,EAW67907,EAW67908,EAW67909,EAW67910,EAW67911,EAW67912,BAE06101,AAF86230,AAF78955,AAF78956,CAC20566,BAG65257,AAH31079,AAC50895,Q92879,ABM84643,NP_001166110,NP_001166111 Hs.595333 BRUNOL2|CUG-BP|CUGBP|CUGBP1|EDEN-BP|NAB50|NAPOR|hNab50 50 kDa nuclear polyadenylated RNA-binding protein|CELF-1|CUG RNA-binding protein|CUG triplet repeat RNA-binding protein 1|CUG triplet repeat, RNA binding protein 1|CUG triplet repeat, RNA-binding protein 1|CUG-BP- and ETR-3-like factor 1|CUG-BP1|CUGBP Elav-like family member 1|EDEN-BP homolog|RNA-binding protein BRUNOL-2|bruno-like 2|bruno-like protein 2|deadenylation factor CUG-BP|embryo deadenylation element binding protein|embryo deadenylation element-binding protein homolog|nuclear polyadenylated RNA-binding protein, 50-kD protein-coding 68488 CUGBP2 CUG triplet repeat, RNA binding protein 2 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 9887331,17474147,18325984,18292181,18258790,17383427,16920700,16713569,16344560,15894795,15358864,15342556,15146197,15033780,14973222,12535526,12477932,12110949,11577082,11414768,11158314,10893231,10524244,8889548,7869393,19913121,20628086,20677014,16385451,18951430,20379614 10659 NM_006561,NM_001083591,NM_001025076,AC026887,AF295068,AL136320,AL136369,AL138769,AL157704,AL162408,CH471072,AA595891,AF036956,AF090693,AF090694,AF432906,AK293164,AK295511,AK297313,AK297380,AK299548,AK299983,AK299992,AK302681,AK304216,AK310038,AK314087,NM_001025077,AK316354,AW965523,BC036391,BC050635,BE275530,BI914655,BM699598,BP229421,BP362205,BQ213648,BU173199,CD556770,CN356737,CR936676,CR976278,DA310511,DA819821,DB478862,U69546 NP_001020248,NP_006552,NP_001077060,NP_001020247,AAK72223,AAK72224,AAK92699,CAI20168,CAI20169,CAH70230,CAH70231,EAW86346,EAW86347,EAW86348,EAW86349,EAW86350,AAD02074,AAD13760,AAD13761,AAL27627,BAG56708,BAG58428,BAG59778,BAG59822,BAG61493,BAG61804,BAG61812,BAG63913,BAG65088,BAG36783,BAH14725,AAH36391,AAB09040,O95319,Q5VZZ6 Hs.309288 BRUNOL3|CUGBP2|ETR-3|ETR3|NAPOR CELF-2|CUG triplet repeat RNA-binding protein 2|CUG triplet repeat, RNA binding protein 2|CUG-BP- and ETR-3-like factor 2|CUG-BP2|CUGBP Elav-like family member 2|ELAV-type RNA-binding protein 3|OTTHUMP00000019076|OTTHUMP00000019077|OTTHUMP00000019078|RNA-binding protein BRUNOL-3|bruno-like protein 3|cug triplet repeat,rna-binding protein 2|hNAPOR|neuroblastoma apoptosis-related RNA-binding protein protein-coding 1317768 CUL1 cullin 1 1559274,1580863 10230407,10230406,9990852,9827542,9663463,9430629,8889548,17914462,18173839,18495667,10531035,12840033,18378770,12628165,18627766,18765672,11384984,17353931,10644755,11585921,12925736,14743216,12861003,14603323,14685242,11689688,20832730,15118074,15145941,15448697,15452136,15572695,15640526,15798217,15966899,16410731,20878082,12759363,12690205,12679038,12609982,12504026,12481031,12477932,12417738,12140560,11967155,11961546,11956208,11717410,11445862,11359933,11337588,11230166,11076863,11027288,10851089,10772955,10713156,10597293,10559858,14508008,12853948,12504025,8681378,12791267,12820959,15469984,11231585,18826954,18784078,18723677,17569795,17254749,17028207,16861300,16381901,16123585,16036220,15759013,15489336,15489334,14702039,18203720,16009132,16177058,16357137,16759355,15103331,15604093,16123592,16137618,16278047,16620772,16774918,16880511,17098746,17148452,17274640,17290223,17389604,17429597,17439941,18805092,19596235,19615732,19679553,19738611,19945379,20379614 1559274 8454 NM_003592,AACC02000041,AC005229,AC006323,CH471146,AF062536,AK096163,AK096505,AK296909,AK315023,BC034318,BC125119,BC125120,BG391038,BX537409,CA945052,CR617261,CR621639,CR626210,U58087 NP_003583,EAL24422,AAM49153,AAS02034,EAW80072,EAW80073,EAW80074,AAC36681,BAG53222,BAG53307,BAG59465,AAI25120,AAI25121,CAD97651,AAC50544,Q13616,Q75MQ1,CAL38322,CAL38443 Hs.146806 MGC149834|MGC149835 CUL-1|OTTHUMP00000202347|cullin-1 protein-coding 1321670 CUL2 cullin 2 1559275,1580863 18372249,16036220,16611863,20562859,12609982,17304241,17353931,17609115,8681378,18984674,17609271,17069461,16620772,16503656,15489334,15280393,15164054,14702039,12477932,12149480,12004076,11818338,11384984,11337588,10973499,10597293,10535940,10449727,10230407,10092517,9447969,9122164,7660130,10587522,12481031,16385451,17183367,17439941,17636018,18173839,18826954,19030229,19615732,20078552,15448697,20086098,15572695,15966899,19760754 1559275 8453 AI089201,DC401811,DC401936,NM_001198777,NM_001198778,NM_001198779,BC095405,BC110901,U58088,U83410,AL392046,NM_003591,CH471072,AF126404,AK095217,AK294080,AK300491,AK310225,AL832733,BC009591 EAW85927,NP_001185706,NP_001185707,NP_001185708,AAI10902,AAC50545,AAC51190,Q13617,Q5T2B4,Q5T2B5,Q5T2B7,NP_003582,CAI13162,CAI13163,CAI13164,CAI13165,EAW85924,EAW85925,EAW85926,EAW85928,AAD23581,BAG53007,BAH11667,BAH13294,AAH09591 Hs.667069,Hs.82919 MGC131970 CUL-2|OTTHUMP00000019437|OTTHUMP00000019439|cullin-2 protein-coding 1317824 CUL3 cullin 3 CUL3 is a component of a ubiquitin E3 ligase that is essential for mitotic division (Sumara et al., 2007 [PubMed 17543862]).[supplied by OMIM] 1559280,1559279,1580863 15983046,16036220,20562859,12609982,8681378,10500095,9733711,19427028,18757741,18303015,18251510,18221766,18218622,18075312,17543862,17254749,17192413,16620772,16524876,15897978,15897469,15601839,15592455,15489334,15302935,15282312,12477932,11337588,11311237,10597293,10230407,9734811,9663463,9110174,8619474,19261606,18417180,18573101,18429817,18826954,11384984,12481031,20452971,15572695,20800603,15772280,17046835,17148452,17439941,17822677,19489739,19615732,19768582,19782033,19818708,19995937,20081843,20389280,20463177 1559280,1559279 8452 NM_003590,AC073052,AC092679,CH471063,AB014517,AF052147,AF062537,AF064087,AK291151,AK299644,AK308496,AY007151,AY337761,BC031844,BC039598,BC092409,BQ688156,CR603582,U58089 NP_003581,AAX93287,AAY24157,EAW70828,EAW70829,EAW70830,BAA31592,AAC28621,AAC36682,AAC36304,BAF83840,BAH13086,AAQ01660,AAH31844,AAH39598,AAH92409,AAC50546,Q13618,Q53RD1,Q53S54 Hs.372286 CUL-3|OTTHUMP00000203839|OTTHUMP00000203840|cullin-3 protein-coding 1351332 CUL4A cullin 4A 1580863 17620334,17452440,17041588,16964240,16951172,16949367,16861906,16861890,16678110,16537899,16527807,16473935,16407252,16407242,16341674,16137618,15811626,15548678,15489334,15057823,15009096,14739464,14578910,12732143,12609982,12477932,12029633,11673459,11337588,10597293,10230407,9721878,12504025,8681378,19208841,19056892,18703516,18606781,18524771,18381890,18332868,9694792,12481031,15448697,17429597,18173839,18593899,18794347,19295130,19481525,19557001,19615732,19818632,20064923,19995430,20395298,12504026,16036220,16620772,20932471,20951943,15572695,19759913,20800603 8451 NM_003589,NM_001008895,AL136221,CH471085,AB012193,AB178950,AF077188,AK296700,AK314835,AL833355,AY365124,BC008308,BC015166,BM835927,BX439434,CA445237,CR593635,CR603374,CR610339,CR616294,U58090 NP_003580,NP_001008895,CAI13795,CAM18410,EAX09201,BAA33146,BAD93235,AAD45191,BAG59294,BAG37354,AAR13072,AAH08308,AAC50547,Q13619,ABW03594 Hs.339735 CUL-4A|OTTHUMP00000018753|cullin-4A protein-coding 1342683 CUL4B cullin 4B This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15572695,12504026,12609982,8681378,19295130,19056892,18593899,18235224,17392787,17273978,17236139,17041588,16678110,16620772,16407252,16344560,16322693,15772651,15489334,15302935,14578910,12477932,12168954,10978356,10597293,10230407,10092517,9734811,12481031,16036220,20932471,20951943,16949367,16964240,18794347,19615732,19801544,19818632,20002452,20005570,20064923 8450 NM_001079872,NG_009388,AC002476,AL451005,CH471107,AB014595,AF212995,AK123688,AK299081,AK315037,AY365125,BC036216,BX537641,BX537787,BX647096,CR603224,CR936722,CV573599,DB092748,NM_003588,U58091 NP_001073341,AAB67315,CAI41370,EAX11876,EAX11877,EAX11878,EAX11879,EAX11880,BAA31670,AAK16812,BAG53936,BAH12944,BAG37520,AAR13073,AAH36216,CAD97843,NP_003579,AAC50548,Q13620,ABM85676 Hs.102914 DKFZp686F1470|KIAA0695|MRXHF2|MRXS15|MRXSC|SFM2 CUL-4B|cullin-4B protein-coding 733947 CUL5 cullin 5 1559277,1299331,2301432,2301433,1580863 9581826,12504025,8681378,18029348,14564014,15781449,18216112,17974915,17449237,17351129,17257057,17186378,17069461,16636053,16530799,15574592,15489334,15184056,14702039,12917106,12477932,12186903,11409851,11384984,10898738,10597293,10230407,10092517,9950950,9119394,9037604,8889549,16303161,15574593,17353931,16325183,11337588,15231748,15761153,17636018,18826954,19118439,19588889,19615732,19933325,18805092 1559277,1299331,2301432,2301433 8065 AP002433,AP003307,CH471065,AA099369,AA403092,AA471067,AF017061,AF327710,AK125294,AK292575,BC017838,BC037203,BC063306,H01402,NM_003478,X81882 NP_003469,EAW67101,EAW67102,AAB70253,AAK07472,BAF85264,AAH63306,CAA57465,Q93034 Hs.440320,Hs.701122 VACM-1|VACM1 CUL-5|Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1)|Vasopressin-activated calcium-mobilizing receptor-1|cullin-5|vasopressin-activated calcium-mobilizing receptor 1|vasopressin-activated calcium-mobilizing receptor protein protein-coding 1314380 CUL7 cullin 7 1559277,1559286,1580863,1559287 12481031,19225462,17942889,17675530,17586686,17332328,17298945,16875676,16547496,16142236,15489334,14574404,12904573,12477932,12421765,10531037,7584044,16344560,17474147,20005570,18029348 1559277,1559286,1559287 9820 AL136304,AL355385,CH471081,AK292806,AK302668,AK307936,AK309902,BC033647,BG424177,CR598926,D38548,NM_014780,DA496861,NG_016205,NM_001168370 CAI19793,CAI13779,EAX04144,EAX04145,BAF85495,BAG63902,AAH33647,BAA07551,Q14999,NP_055595,NP_001161842 Hs.520136 KIAA0076|dJ20C7.5 CUL-7|cullin-7 protein-coding 1604392 CUL9 cullin 9 17380154,19851296,20198315,17474147,18230339,17332328,17298945,16672220,15489334,14702039,12526791,12477932,12421765,10521492,9734811,15558054 23113 AL133375,CH471081,AB014608,AJ318215,AK125228,AK129649,AY145132,BC002879,BC017747,BC028159,CR749511,CR749841,NM_015089,AK128364 NP_055904,CAI20204,EAX04163,EAX04164,BAA31683,CAC85756,BAC86090,BAC85207,AAN61516,AAH02879,AAH28159,CAH18328,CAH18696,BAC87400,Q05C85,Q8IWT3,AAI48598 Hs.485434 DKFZp686G1042|DKFZp686P2024|H7AP1|PARC|RP3-330M21.2 CUL-9|OTTHUMP00000217056|UbcH7-associated protein 1|cullin-9|p53-associated parkin-like cytoplasmic protein|parkin-like cytoplasmic p53 binding protein protein-coding 1346513 CUTA cutA divalent cation tolerance homolog (E. coli) 10800960,17924204,15489334,15146197,14574404,12477932,10954708,16712791,19851445 51596 CR590722,CR595524,CR597845,CR606293,CR613274,CR620346,NM_015921,NM_001014838,NM_001014837,NM_001014840,NM_001014433,AL021366,AL050332,AL662799,BX088650,CH471081,AF106943,AF230924,AL533788,BC005890,BC107751,BG472577,BU540844,CB106834,CN363642 O60888,NP_001014838,NP_001014837,NP_001014840,NP_001014433,CAA16160,CAB63779,CAI18273,CAM26302,CAM26303,EAX03731,EAX03732,EAX03733,EAX03734,AAD21026,AAF61220,AAH05890,AAI07752,NP_057005 Hs.520070 ACHAP|C6orf82|MGC111154 OTTHUMP00000215493|OTTHUMP00000215497|acetylcholinesterase-associated protein|brain acetylcholinesterase putative membrane anchor|chromosome 6 open reading frame 82|divalent cation tolerant protein CUTA|protein CutA protein-coding 1312713 CUTC cutC copper transporter homolog (E. coli) Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM] 1580863 16341674,16189514,16182249,15635413,15489334,14702039,12477932,10810093,7635807,16169070,19878721 51076 NM_015960,AL133353,CH471066,AF132966,AK001142,AK302507,AK314687,BC011016,BC015059,BC021105,BC028948,BM738181,CD107559,CR613820,CR622851 NP_057044,CAB88199,CAI14501,EAW49854,EAW49855,EAW49856,AAD27741,BAG63784,BAG37239,AAH21105,AAH28948,Q5TCZ7,Q9NTM9 Hs.16606 CGI-32|RP11-483F11.3 OTTHUMP00000020261|copper homeostasis protein cutC homolog|cutc copper transporter homolog (e.coli) protein-coding 1319831 CUX1 cut-like homeobox 1 The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 19332113,20936779,19590514,19635798,20237496,20379614,1301999,19361498,19015243,18614194,18403643,18347061,17957475,17682059,17681953,17496784,17369846,17227781,17140660,16574653,16529788,15950902,15718469,15489334,15269344,15099520,15004235,14702039,12891711,12853948,12766905,12743282,12665598,12522000,12477932,12438259,12429822,12193717,12115525,12052827,11953010,11748221,11584018,11509674,11403998,11371564,10852958,10803519,10607901,10373541,9799793,9792700,9373149,9332351,8662884,8468066,8125298,2481658,16169070,20842632,19888899,18029348,20689760,19394292,20848487,20442202 1523 NM_001913,NM_181500,NM_181552,AC005072,AC005086,AC005088,AC005096,AC005103,AC091390,AC092788,AF047825,CH471197,AB075522,AK122726,AK125097,AK222832,AK297548,AK303151,BC012323,BC025422,BC066592,CR609926,L12579,M74099 NP_001904,NP_852477,NP_853530,AAP22331,AAS07406,AAS07410,AAS07388,AAS07523,AAC78778,EAW50227,EAW50228,BAE45765,BAG53691,BAG54140,BAD96552,BAG59942,BAG64254,AAH25422,AAH66592,AAA35654,P39880,Q13948,Q3LIA3,Q75MT4 Hs.654389 CASP|CDP|CDP/Cut|CDP1|COY1|CUTL1|CUX|Clox|Cux/CDP|GOLIM6|Nbla10317|p100|p110|p200|p75 CCAAT displacement protein|OTTHUMP00000211511|OTTHUMP00000211515|OTTHUMP00000211516|OTTHUMP00000211517|OTTHUMP00000211518|cut homeobox|cut homolog|cut-like 1, CCAAT displacement protein|golgi integral membrane protein 6|homeobox protein cut-like 1|homeobox protein cux-1|protein CASP|putative protein product of Nbla10317 protein-coding 1314310 CUX2 cut-like homeobox 2 1580863 19401682,19328558,15656993,12477932,12168954,11353453,9446557,9179496,8798433,20634891 23316 NM_015267,AC002352,AC002978,AC002979,AC005805,AB006631,AF234996,AF271236,BC151245,NG_023039 NP_056082,BAA22962,AAG59617,AAG59620,AAI51246,O14529,Q9BZV4,Q9BZX3,AAI40441 Hs.124953 CDP2|CUTL2 homeobox protein cut-like 2|homeobox protein cux-2 protein-coding 1353922 CUZD1 CUB and zona pellucida-like domains 1 633090 15184879,16862170,15588985,15164054,12975309,12361947,11416020,10542259,12477932 633090 50624 NM_022034,AC073585,AL359747,CH471066,AF305835,AK289445,AK300849,AY260047,AY260048,AY260049,AY260050,BC136755,BC144398,BX538283,BX538284,BX648572 NP_071317,CAH70003,CAH70004,CAH70006,EAW49303,AAG23215,BAF82134,BAG62500,AAP15458,AAP15459,AAP15460,AAP15461,AAI36756,CAD98079,CAD98080,Q86UP6 Hs.647182 ERG-1|UO-44 CUB and ZP domain-containing protein 1|CUB and zona pellucida-like domain-containing protein 1|OTTHUMP00000020674|estrogen regulated gene 1|transmembrane protein UO-44 protein-coding 1604821 CWC15 CWC15 spliceosome-associated protein homolog (S. cerevisiae) 10873569,18951430,15342556,12477932,11884590,11042152,9373149,8889548,8125298,11101529,18482256 51503 NM_016403,AP002383,CH471065,AF110775,AF161497,AJ250393,AK225956,AK309042,AK314900,BC006975,BC032629,BC040946,BM971024,BP231785,BU676427,CA413488,CR596277,CR599874,CR600216 NP_057487,EAW66946,EAW66947,EAW66948,EAW66949,EAW66950,EAW66951,AAF14858,AAF29112,CAB96541,BAG37414,AAH06975,AAH32629,AAH40946,Q9P013,ADR82696 Hs.503597 C11orf5|Cwf15|HSPC148|ORF5 CWC15 homolog|protein CWC15 homolog protein-coding 1605651 CWC22 CWC22 spliceosome-associated protein homolog (S. cerevisiae) 11991638,15231747,14702039,12477932,10997877,9136012,20379614 57703 BF699499,NM_020943,AC068194,AC096587,CH471058,AB046824,AK025635,AK026978,AK123647,BC016651,BC031216,BC041662,BC053573,BC057826,BC093952,BC093954,BC143433,CR616945 Q9HCG8,NP_065994,EAX10996,EAX10997,EAX10998,BAB13430,BAB15197,BAB15612,AAH16651,AAH31216,AAH53573,AAH57826,AAH93952,AAH93954 Hs.311363 EIF4GL|KIAA1604|NCM|fSAPb OTTHUMP00000205375|functional spliceosome-associated protein b|nucampholin homolog|pre-mRNA-splicing factor CWC22 homolog protein-coding 1312323 CWF19L1 CWF19-like 1, cell cycle control (S. pombe) 737633 14702039,12477932,9373149,16169070,16385451,19773279,8125298 737633 55280 NM_018294,AL138921,CH471066,AK000876,AK001860,AK023984,AK055313,AK097895,AK225590,AK295303,AL832515,BC008746 NP_060764,CAH72402,EAW49838,EAW49839,EAW49840,EAW49841,EAW49842,EAW49843,EAW49844,BAA91947,BAB14754,BAG58283,CAH10625,AAH08746,Q69YN2 Hs.215502 FLJ10998|RP11-316M21.3 CWF19-like protein 1 protein-coding 1320784 CWF19L2 CWF19-like 2, cell cycle control (S. pombe) 737633 20677014,18398821,16344560,14702039,12477932,20379614 737633 143884 AP000766,AP001823,CH471065,AI148333,AK056905,AK126881,AK293001,BC016611,BC028043,BC056241,BC070142,BC107418,BC110439,BC110440,NM_152434,BC110441,BC118669,BX647832,BX648704,BX649022,DA291472,BC110442 NP_689647,EAW67085,EAW67086,BAB71307,BAF85690,AAH28043,AAH56241,AAI10440,AAI10442,AAI10443,AAI18670,Q2TBE0,Q6PIV4,AAI10441 Hs.212140 FLJ32343 CWF19-like protein 2 protein-coding 735910 CX3CL1 chemokine (C-X3-C motif) ligand 1 1580863,4140458,4891887,4891945,4891956,4891990,4891998,4891906,4891907,4891973,4892001,4892002,4891883,4891886,4891898,4891946,4891964,4891965,4891994,4891995,4891888,2304251,4892022,4891897,4143386,4891889,4891972,4891992,4891968,4891892 19913121,20485444,20628086,9826729,20559678,12714508,11777952,19372452,19369458,19351602,19327232,19324423,19214751,19155311,19153557,19132243,19047106,19030200,18938112,18800027,18799722,18799080,18778890,18725411,18606701,18523306,18436581,18367676,18296082,18230685,18006432,17907166,17895402,17885215,17611763,17505143,17487393,17471309,17415055,17241867,17132725,17082482,17075825,17062081,17002687,16877565,16767549,16645504,16224053,15774461,15726664,15621116,15579768,15529011,15489334,15361546,15223613,15131578,15111313,15013759,14747189,14688370,14665693,14657873,14581400,14580149,14533779,14514721,12969992,12969973,12824004,12810688,12727021,12667665,12639246,12616493,12569179,12551893,12477932,12126650,12125082,12100035,12076860,12055230,12042278,12016106,11909868,11495925,11238035,10940926,10770945,10731151,10640747,10493829,10458770,9931005,9726990,9691168,9390561,9373149,9177350,9024663,8125298,10869418,20664972,19432809,19563789,19605482,19723636,19729601,19840952,19850645,19851523,19923448,20019415,20034466,20041188,20231691,20237149,20237496,20512991,20482449,20668227 4140458,4891887,4891945,4891956,4891990,4891998,4891906,4891907,4891973,4892001,4892002,4891883,4891886,4891898,4891946,4891964,4891965,4891994,4891995,4891888,2304251,4892022,4891897,4143386,4891889,4891972,4891992,4891968,4891892 6376 AC004382,AC009052,CH471092,EF064745,AB209037,AK222692,AK223351,AK313806,BC001163,BC016164,CR457426,CR595915,U84487,U91835,NM_002996,GU047346 NP_002987,AAC24307,EAW82919,ABK41928,BAD92274,BAD96412,BAD97071,BAG36542,AAH01163,AAH16164,CAG33707,AAB49679,AAB50014,P78423,Q53FD8,Q53H89,Q59GS2,Q6I9S9,ABM81630,ABM82797,ABM84814,ABM85985 Hs.531668 ABCD-3|C3Xkine|CXC3|CXC3C|NTN|NTT|SCYD1|fractalkine|neurotactin C-X3-C motif chemokine 1|CX3C membrane-anchored chemokine|fractalkine|small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)|small inducible cytokine subfamily D (Cys-X3-Cys), member-1|small-inducible cytokine D1 protein-coding 1352124 CX3CR1 chemokine (C-X3-C motif) receptor 1 1580863,4891901,4891905,4891907,4891972,4891885,4891893,4891898,4891903,4891900,4891904,4891945,4892002,4144897,4892014,4892018,4891895,4891946,4891998,4892001,4892015,4892020,4891882,4891942,4892027,4891995,4891891,4891896,4891968,4891992,4891969,4892016,4891964,4891973 19913121,20628086,20524966,10754298,9931005,9390561,19433914,19420105,19372452,19264973,19155311,19064579,19056482,19032065,19015224,19001328,18996288,18974152,18938112,18845960,18772344,18676680,18636124,18633131,18617779,18615095,18609106,18519809,18424766,18391751,18296082,18194290,18078680,18060687,18006432,17938902,17900259,17895402,17885215,17884099,17804530,17725420,17672867,17653321,17611763,17579663,17505143,17471309,17456471,17241867,17082760,17057786,17002687,16979977,16908772,16865553,16799040,16675737,16645504,16584113,16524739,16480760,16478397,16411402,16317113,16314800,16284527,16224053,16144955,16026776,15886814,15871132,15809764,15726664,15681302,15644279,15579768,15489334,15361546,15347678,15256432,15208270,15131578,15118174,14990582,14747189,14657873,14607932,14581400,12975017,12889997,12646802,12626895,12551893,12545080,12535747,12477932,12459434,12234253,12125082,12110009,12076860,12055230,12032878,11909868,11856781,11818437,11781291,11766992,11535497,11532900,11391174,11264153,10940926,10731151,10702689,9726990,9373149,8125298,7646814,7590284,10869418,11804551,20538655,16344560,17476338,19170196,19369458,19439304,19563789,19571253,19578796,19587779,19625176,19628406,19692168,19755791,19923448,20019415,20038229,20041188,20047517,20102414,20142115,20184883,20237496,20305648,20442634,20453000,20506646,20523302,20531015,19915801,20974991,20439195,20667981,21038415 4891901,4891905,4891907,4891972,4891885,4891893,4891898,4891903,4891900,4891904,4891945,4892002,4144897,4892014,4892018,4891895,4891946,4891998,4892001,4892015,4892020,4891882,4891942,4892027,4891995,4891896,4891968,4891992,4891969,4892016,4891964,4891973 1524 NM_001337,AC092053,AY016370,CH471055,EF064744,EU006531,AK225764,AK307911,AK312373,BC017855,BC028078,BG541473,U20350,U28934,AI400350,DA396634,DA406242,DB274136,NG_016362,NM_001171171,NM_001171172,NM_001171174 NP_001328,AAK08627,EAW64575,EAW64576,ABK41927,ABS29268,BAG35291,AAH28078,AAA91783,AAA87032,P49238,ABM81989,ABM85169,NP_001164642,NP_001164643,NP_001164645 Hs.78913 CCRL1|CMKBRL1|CMKDR1|GPR13|GPRV28|V28 C-X3-C CKR-1|CMK-BRL-1|CMK-BRL1|CX3C chemokine receptor 1|G protein-coupled receptor 13|G-protein coupled receptor 13|OTTHUMP00000209588|OTTHUMP00000209589|beta chemokine receptor-like 1|chemokine (C-C) receptor-like 1|chemokine (C-X3-C) receptor 1|fractalkine receptor protein-coding 1346916 CXADR coxsackie virus and adenovirus receptor The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq] 1580863 20622880,9036860,18029348,9096397,15800062,16780588,19506548,19502044,19467232,19142187,19132065,19131551,19119424,19115936,19100061,19007771,18959124,18558015,18552123,18081225,17538635,17506949,17494992,17278108,17210569,17118917,17031523,16956941,16951199,16937527,16923808,16831563,16284735,16189514,16101391,15958612,15956603,15831949,15778494,15596863,15533241,15489334,15456946,15364909,15304526,15302935,15173092,14978041,14967025,12920584,12477932,12468544,12297051,12021372,11752156,11734628,11573093,11549277,11479928,11457744,11316797,11080637,10666333,10567268,10543405,10490761,9420240,9144533,15110532,17896511,18618240,19495568,19527712,19590529,19773761,19925382,19933937,19957088,20379614,20361046,19615283 1525 NM_001338,AF169366,AF200465,AF242865,AP000963,AP000967,CH471079,AF124598,AK313526,AY072910,AY072911,AY072912,BC003684,BC010536,BM547121,BT019876,CR617256,U90716,Y07593,GU474812 NP_001329,AAF05908,AAF24344,AAG01088,EAX10030,EAX10031,EAX10032,EAX10033,AAD31772,BAG36305,AAL68878,AAL68879,AAL68880,AAH03684,AAH10536,AAV38679,AAC51234,CAA68868,P78310,ABM82107,ABM85289,ADC84500 Hs.634837 CAR|CAR4/6|HCAR 46 kD coxsackievirus and adenovirus receptor (CAR) protein|CVB3 binding protein|CVB3-binding protein|HCVADR|OTTHUMP00000083233|OTTHUMP00000083234|coxsackie virus B receptor|coxsackievirus B-adenovirus receptor|coxsackievirus and adenovirus receptor protein-coding 2291817 CXADRP1 coxsackie virus and adenovirus receptor pseudogene 1 10543405 653108 NG_008739,AL050303 CAR|CXADRP pseudo 2291815 CXADRP2 coxsackie virus and adenovirus receptor pseudogene 2 646243 NR_024387,AC068446,BX095347 Hs.720910 pseudo 2299986 CXADRP3 coxsackie virus and adenovirus receptor pseudogene 3 12477932 440224 NR_024076,AP006261,BC089388 Hs.721675 pseudo 1345190 CXB3S coxsackie virus B3 sensitivity 1526 1343759 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CXC chemokines are further subdivided into ELR and non-ELR types based on the presence or absence of a glu-leu-arg sequence adjacent and N terminal to the CXC motif. ELR types are chemotactic for neutrophils, while non-ELR types are chemotactic for lymphocytes.[supplied by OMIM] 1580863 12012624,11816717,11524231,11470861,11349045,11023497,10437780,10095777,9152234,8942852,8940121,8702798,8597869,8550564,8397104,8380167,8089846,7806518,7592830,7561066,3264403,2970963,2909392,2890161,2670560,2655583,2217207,2182761,2129556,1906501,1379593,16934308,12089333,12388718,11390582,13679391,15133028,10820279,9079638,9725262,9551928,9058825,10881932,19258923,19176759,19103522,18451219,18283335,18276907,18211687,18065201,18056965,17999991,17703412,17703315,17581194,17466952,17456471,17096385,17062666,17060621,17022986,16617094,16567391,16098041,16086366,15994316,15843053,15492419,15489334,15340161,15218300,14530367,12744776,12734381,12591113,12477932,20628624,20621720,20731665,18240029,19258312,19430878,19435811,19549892,19780053,19838218,19906815,20042592,20237496,20503287,20195728,18577758,20495539,16712791,20685145 2919 NM_001511,AC092438,CH471057,U03018,X54489,BC011976,BT006880,J03561,X12510,BQ000742,CB112830,HI519534 NP_001502,EAX05693,AAA03452,CAA38361,AAH11976,AAP35526,AAA35933,CAA31027,P09341,Q6LD34,ABM84517,ABM85867,CBX54348 Hs.789,Hs.708652 FSP|GRO1|GROa|MGSA|MGSA-a|NAP-3|SCYB1 C-X-C motif chemokine 1|GRO-alpha(1-73)|GRO1 oncogene (melanoma growth stimulating activity, alpha)|GRO1 oncogene (melanoma growth-stimulating activity)|MGSA alpha|fibroblast secretory protein|growth-regulated alpha protein|melanoma growth stimulatory activity alpha|neutrophil-activating protein 3 protein-coding 1352024 CXCL10 chemokine (C-X-C motif) ligand 10 This gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. [provided by RefSeq] 2311384,2311358,2311376,1598502,2311365,2311357,2311381,2311356,2311359,2311360,2311361,2311362,2311363,2311364,2311383,1598500,2311388,2311389,2311386,2311355,1580863 9060447,9022006,8423327,8145049,2437586,12089333,11878903,16697675,15518810,9462486,12782716,15315758,19880820,20592450,20980518,20137825,20186422,20523065,20041963,20299237,10903763,8798675,3925348,19523460,19479051,19472212,19410617,19342664,19327225,19281798,19274094,19203362,19195322,19187771,19181310,19155980,19088500,19070948,19065267,19031697,18986693,18985732,18973545,18855195,18798334,18729739,18702954,18684849,18682747,18647352,18645041,18538864,18424889,18415893,18379127,18325387,18282714,18281042,18275857,18259970,18234638,18085351,18046562,18037659,17996064,17963704,17957030,17943641,17912012,17875534,17766680,17763328,17763275,17668902,17652371,17628646,17541284,17505511,17467667,17364892,17255201,17250724,17244787,17211148,17085967,17052299,17052298,17018607,16969644,16934957,16931519,16920957,16864907,16825597,16733654,16709871,16645011,16581825,16507178,16490936,16243485,16210647,16200621,16195357,16181055,15988033,15944327,15919935,15885315,15880073,15879427,15843529,15814716,15745922,15725351,15644410,15489334,15307834,15150261,15081261,15081247,15063730,14739277,14630801,14600836,14578618,14550288,14507644,12946268,12930373,12884299,12856973,12847282,12847218,12819903,12819030,12794718,12737818,12718750,12698106,12668159,12667820,12663757,12603854,12584353,12571234,12539042,12477932,12445801,12441140,12393716,12384933,12356205,12270371,12189440,12173928,12162873,12126650,12117926,12117914,12016104,11897701,11867072,11818520,11559369,11467655,11418676,11401991,11390394,11110785,11083865,10982368,10233762,10201901,10201891,9705166,20485444,20302596,20943047,20648615,18240029,19105984,19175890,19223260,19258635,19342252,19441886,19447045,19459809,19506876,19558503,19565490,19590927,19639049,19641142,19694638,19756997,19800124,19817957,19827943,19887486,19901067,19918044,19939453,19969087,20056178,20059481,20137269,20144041,20164184,20186843,20187787,20404089,20485145,16867276,19821051,20153790,20473322,20525556,20833730 2311384,2311358,2311376,1598502,2311365,2311357,2311381,2311356,2311359,2311360,2311361,2311362,2311363,2311364,2311383,1598500,2311389,2311386,2311355 3627 NM_001565,AC112719,CH471057,BC010954,BF056337,X02530 NP_001556,EAX05772,EAX05773,AAH10954,CAA26370,P02778,ABM83712,ABM87032 Hs.632586 C7|IFI10|INP10|IP-10|SCYB10|crg-2|gIP-10|mob-1 10 kDa interferon gamma-induced protein|C-X-C motif chemokine 10|gamma IP10|gamma-IP10|interferon-inducible cytokine IP-10|protein 10 from interferon (gamma)-induced cell line|small inducible cytokine subfamily B (Cys-X-Cys), member 10|small-inducible cytokine B10 protein-coding 1316122 CXCL11 chemokine (C-X-C motif) ligand 11 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. [provided by RefSeq] 1580863 10233762,18669615,18645041,18515987,15342556,20529825,18411283,18316607,18275857,18258269,18209084,17363734,17255201,17142784,16368892,16358960,16210647,16200621,16081539,15885315,15814716,15653416,15489334,15308116,15273303,15150261,15122750,12884299,12847282,12787142,12695288,12477932,12169689,12162873,12126650,12055261,11559369,11390394,11110785,10395932,10386863,10065899,9730616,9625760,9370294,8798467,12782716,18240029,19175890,19274094,19800124,19875106,19939453,20036838,20056178,20810571,20848514,18577758 6373 A82120,AC112719,AF053972,AF077867,CH471057,Y15221,AF002985,AF030514,AF352781,BC005292,BC012532,BC110986,BT006787,NM_005409,U59286,U66096,Y15220,BP289021 NP_005400,CAB69205,AAD10206,AAD38327,EAX05774,CAB51859,AAC51845,AAC39775,AAK52900,AAH05292,AAH12532,AAI10987,AAP35433,AAB17374,AAD38867,CAA75510,O14625,Q96KF0,ABM86629,ABW03806 Hs.632592 H174|I-TAC|IP-9|IP9|MGC102770|SCYB11|SCYB9B|b-R1 C-X-C motif chemokine 11|OTTHUMP00000219214|beta-R1|interferon gamma-inducible protein 9|interferon-inducible T-cell alpha chemoattractant|small inducible cytokine B11|small inducible cytokine subfamily B (Cys-X-Cys), member 11|small inducible cytokine subfamily B (Cys-X-Cys), member 9B|small-inducible cytokine B11 protein-coding 737223 CXCL12 chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1) For background information on chemokines, see CXCL1 (MIM 155730). Stromal cell-derived factors 1-alpha and 1-beta are small cytokines that belong to the intercrine family, members of which activate leukocytes and are often induced by proinflammatory stimuli such as lipopolysaccharide, TNF (see MIM 191160), or IL1 (see MIM 147760). The intercrines are characterized by the presence of 4 conserved cysteines which form 2 disulfide bonds. They can be classified into 2 subfamilies. In the CC subfamily, which includes beta chemokine, the cysteine residues are adjacent to each other. In the CXC subfamily, which includes alpha chemokine, they are separated by an intervening amino acid. The SDF1 proteins belong to the latter group.[supplied by OMIM] 2306577,2301942,2306559,2306554,2306564,2306567,632503,2306307,2306556,2306557,2306560,2306561,2306563,2306562,2306555,2306558,2306579,2306553,2306568,2306575,2306570,2317610,2317609,2317608 19913121,20133349,20497701,20536507,20563451,20585037,20603037,20622326,20628086,20694560,20695076,20725607,19198609,10550315,10772939,10491003,10802710,8752280,10198043,10620615,10570282,19646633,19605814,19559392,19523923,19521120,19501493,19497995,19496172,19472013,19438749,19409379,19394082,19381432,19373784,19342158,19339694,19336886,19327121,19307591,19302975,19295169,19289100,19285061,19282275,19263529,19252530,19247692,19215683,19199057,10438529,10358157,10233851,10196252,9743377,9710254,9618518,9558100,9384579,8752281,7490086,16343773,11287575,11162626,10820198,10486323,10430052,9653130,9601645,9744279,10872839,9826729,15972662,12787886,16188969,15748209,15710459,15113900,10582593,8976200,15857508,12354773,11083865,15183061,20629629,20869048,20585996,20631377,20728717,20887389,20923761,21041659,20141446,20540706,20088916,20196627,20392929,18851783,19615218,17456315,19774645,12001056,11994484,11988632,11964548,11953881,11950063,11929756,11912162,11898620,11884424,11877260,11870628,11867624,11865429,11860823,11860793,11830456,11729511,11709782,11694103,11693435,11591806,11571304,11504955,11390394,11389173,11328308,11242036,11241273,11027346,11023498,11023492,10954912,10644702,10600606,10583963,19196101,19139298,19131662,19124913,19115008,19082444,19074885,19064579,19059114,19035451,19032065,19028820,19019853,19017978,19013212,18974840,18954561,18954402,18949410,18936436,18930992,18928845,18928397,18924211,18855658,18845960,18829537,18814143,18802065,18799424,18781098,18775666,18774952,18774388,18763111,18760838,18757300,18709383,18698020,18692524,18687671,18670789,18653785,18648536,18634924,18633131,18632989,18599607,18577527,18575756,18563594,18558091,18556651,18521742,18512766,18502034,18487224,18469140,18454663,18448868,18448428,18443596,18391751,18386165,18383856,18365549,18357387,18354239,18351386,18339898,18337451,18323525,18317966,18316470,18310089,18292939,18292502,18292211,18281050,18276777,18275857,18227351,18223219,18206727,18205260,18191726,18097955,18086932,18060801,18040858,17982648,17964973,17950696,17949547,17923814,17916907,17914737,17898317,17894415,17878755,17846797,17805324,17785557,17784832,17768666,17724466,17706641,17687643,17681365,17653799,17653321,17650669,17634449,17634424,17631494,17604544,17572689,17560067,17559806,17550983,17532557,17530998,17530707,17510563,17507482,17461449,17413295,17409218,17393416,17379424,17357154,17340464,17264079,17245764,17240189,17237407,17197116,17174272,17148615,17143542,17119115,17099730,17082613,17075134,17056591,17046575,17038674,17038526,17034033,17015707,16990599,16977794,16964435,16960937,16948905,16948134,16943240,16929176,16923552,16905744,16875673,16865553,16857992,16823956,16823836,16818471,16782208,16779827,16756955,16703398,16648972,16626895,16611258,16529059,16507142,16503409,16494621,16489019,16485782,16480760,16306115,16286055,16286054,16284526,16261210,16249700,16227796,16206074,16177829,16159864,16148115,16123688,16114056,16112086,16107333,16033774,15998835,15987445,15980693,15978329,15972632,15965952,15955592,15921680,15917309,15888687,15882617,15872091,15844659,15843590,15840658,15831676,15819887,15809737,15808852,15805285,15793201,15754978,15753365,15728464,15718416,15718415,15707999,15701832,15699497,15681827,15677562,15641073,15639953,15630457,15630447,15611059,15608062,15588513,15585097,15575507,15548717,15536181,15533859,15504551,15489334,15475370,15467730,15454484,15381727,15358596,15345598,15328206,15319853,15302103,15292258,15286810,15240098,15236615,15235108,15223017,15192272,15166527,15164054,15146553,15140377,15076247,15048928,15033938,15026312,15021309,14995074,14973260,14871974,14764445,14757413,14688392,14684377,14679085,14630801,14624371,14623290,14600836,14555820,14525775,13130466,12960279,12953097,12907452,12907449,12882655,12865405,12860456,12834106,12817019,12783869,12783211,12775566,12769333,12766157,12761880,12750733,12730110,12705474,12702590,12692604,12605695,12591904,12571520,12557141,12511407,12485835,12482395,12477932,12444109,12436194,12393663,12393569,12370187,12239174,12239139,12215924,12201365,12176869,12149427,12135674,12088413,12068293,12044982,12036857,12036856,12034737,12032878,12004084,20646340,19615279,20177148,20362069,20484957,20501749,20622011,16344560,16385451,17355795,18240029,18549608,19260802,19280118,19335218,19372622,19443661,19460858,19476565,19500134,19508998,19520808,19550128,19551455,19568410,19601773,19639049,19654580,19660434,19669591,19672298,19692460,19695308,19700239,19717493,19718053,19745163,19765831,19773382,19788587,19794961,19808652,19816012,19821058,19825996,19826039,19826912,19834823,19837984,19851296,19878731,19885584,19917679,19921580,19923906,19927352,19942750,19958843,20018929,20025867,20028644,20036838,20038229,20067991,20072657,20077567,20084476,20102637,20104779,20109227,20109310,20118565,20134207,20163833,20181695,20182908,20198315,20206813,20237496,20299965,20348095,20388788,20406099,20411675,20442634,20518834,20530467,20531015,20865359,18836306,19513623,19563077,20020198,20305788,20637871,21059341,20331475,20414828,20558135,20738937,20802378,20851290,20970672,20971364,18577758,20177796,20634887,20661426 2306577,2301942,2306559,2306554,2306564,2306567,632503,2306307,2306556,2306557,2306560,2306561,2306563,2306562,2306555,2306558,2306579,2306553,2306568,2306575,2306570,2317610,2317609,2317608 6387 AY874118,BC031072,BC039893,BX647204,CD172464,CR450283,CR615181,DQ345517,DQ345518,DQ345519,DQ345520,L36033,L36034,U16752,NM_001033886,NM_199168,AL137026,AY802782,CH471160,CS131913,CS131917,AI092156,AK090482,AK124641,AK292628,AK311814,AL713778,AW014388,AY644456,NM_000609,DA266752,NG_016861,NM_001178134 AAW82036,AAH39893,CAG29279,ABC69270,ABC69271,ABC69272,ABC69273,AAB39332,AAB39333,AAA97434,P48061,Q2L985,Q2L986,Q2L988,Q5IT36,Q6ICW0,Q8NF00,NP_000600,NP_001029058,NP_954637,CAC10202,CAC10203,AAV49999,EAW86618,EAW86619,EAW86620,EAW86621,CAJ21099,CAJ21100,BAC03463,BAF85317,BAG34757,CAD28539,AAT76437,NP_001171605 Hs.522891 IRH|PBSF|SCYB12|SDF-1a|SDF-1b|SDF1|SDF1A|SDF1B|TLSF|TLSF-a|TLSF-b|TPAR1 intercrine reduced in hepatomas|pre-B cell growth-stimulating factor|stromal cell-derived factor 1 protein-coding 1342514 CXCL13 chemokine (C-X-C motif) ligand 13 B lymphocyte chemoattractant, independently cloned and named Angie, is a CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq] 1580863 18566383,18354239,18550853,18292286,18528326,18172003,17949547,17709502,17703412,17652619,17592274,17495955,17474076,17082648,17082584,16678487,16543475,16318584,15965952,15934082,15929033,15780119,15546958,15489334,15284119,14763921,12732660,12477932,12406091,12393412,11877260,11708770,11554781,10706668,9463416,16169070,18577758,20495539,17207965,9486651,19375853,19258923,19095563,19031272,18792075,18781150,18780835,18773213,18757429,18668547,20400187,20412587,19671684,19773382,19774453,19805441,19807029,19816883,19955043,19996075,20011704,20042073,20056178,20109310,20223524,20237496,20503287,21084753 10563 NM_006419,AC092674,AC093758,CH471057,AF029894,AF044197,AJ002211,BC012589,BI836728,CA418514,CR407624,EF064743 NP_006410,AAY40955,EAX05816,EAX05817,AAC17980,AAC14402,CAA05250,AAH12589,CAG28552,O43927,Q53X90,ADQ33180,ABK41926 Hs.100431 ANGIE|ANGIE2|BCA-1|BCA1|BLC|BLR1L|SCYB13 B-cell chemoattractant|B-cell-attracting chemokine 1|B-cell-homing chemokine (ligand for Burkitt's lymphoma receptor-1)|B-lymphocyte chemoattractant|C-X-C motif chemokine 13|CXC chemokine BLC|b cell-attracting chemokine 1|b lymphocyte chemoattractant|chemokine (C-X-C motif) ligand 13 (B-cell chemoattractant)|small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)|small-inducible cytokine B13 protein-coding 1316586 CXCL14 chemokine (C-X-C motif) ligand 14 This gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq] 1580863 19339694,19833716,19834535,19903701,20056178,20212097,20237496,20379614,20424473,20460540,20503287,20067447,10049774,11256614,19276362,19258923,19218429,19109182,18809336,18765527,18762809,18676742,18054154,17703412,16987528,16884687,16381901,16303743,16175604,15843547,15651028,15548693,15489336,15489334,14702039,12975309,12477932,11561000,11076863,10946286,10854217,8889548,20628624,19172796,20562917,20478268 9547 NM_004887,AC034206,CS051437,AF073957,AF086340,AF106911,AF144103,AI743431,AK056613,AK075514,AW614568,AY358906,BC003513,BM670989,BT007080,BU729234,BX106404,CR618515 NP_004878,CAI72212,AAD03839,AAF78449,AAD38944,BAG52160,AAQ89265,AAH03513,AAP35743,O95715,CAL37718 Hs.483444 BMAC|BRAK|KEC|KS1|Kec|MGC10687|MIP-2g|MIP2G|NJAC|SCYB14|bolekine C-X-C motif chemokine 14|CXC chemokine in breast and kidney|MIP-2 gamma|OTTHUMP00000159410|bolekine|breast and kidney|chemokine BRAK|small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)|small-inducible cytokine B14 protein-coding 1343594 CXCL15 chemokine (C-X-C motif) ligand 15 337989 AF082859 1354459 CXCL16 chemokine (C-X-C motif) ligand 16 1580863 19674076,18577758,19070478,18760678,18636150,18565283,18514099,18480749,18344492,18339644,18293410,18279707,18250446,18248772,18195710,18194461,17855433,17803654,17703412,17363916,17300746,16849465,16431903,16200580,16142401,15934948,15883016,15836657,15634930,15555552,15489334,15128827,14988089,14702039,14699018,14634054,14625285,12975309,12902461,12477932,17207965,18240029,19578796,19605674,19690611,19729872,19919988,19954776,20334513,20503287,11060282,11290797,11017100,18373975,19575365,19528340,19494317,19435795,19415545,19258923,20960183,19913121,20621591,20628086,20646641 58191 NM_001100812,AC091153,CH471108,EF064742,AF275260,AF301016,AF337812,AK027389,AK292114,AK315017,AY358909,NM_022059,BC017588,BC044930,CA307348,CR611932,CR623711,DC373874 ADQ32484,NP_071342,NP_001094282,EAW90416,ABK41925,AAG31750,AAG34365,AAK38275,BAB55078,BAF84803,BAG37507,AAQ89268,AAH17588,AAH44930,Q9H2A7 Hs.513885 CXCLG16|SR-PSOX|SRPSOX C-X-C motif chemokine 16|CXC chemokine ligand 16|scavenger receptor for phosphatidylserine and oxidized low density lipoprotein|small-inducible cytokine B16|transmembrane chemokine CXCL16 protein-coding 1602051 CXCL17 chemokine (C-X-C motif) ligand 17 17201934,16989774,16455961,15340161,12975309,12477932,20955708,19657564 284340 NM_198477,AC011497,AK292985,AY358433,AY598464,BC093946,BC112095 NP_940879,BAF85674,AAQ88799,AAU04875,AAH93946,AAI12096,Q6UXB2 Hs.445586 DMC|Dcip1|MGC138300|UNQ473|VCC-1|VCC1 C-X-C motif chemokine 17|VEGF co-regulated chemokine 1|dendritic cell and monocyte chemokine-like protein protein-coding 1353345 CXCL1P chemokine (C-X-C motif) ligand 1 pseudogene 9524820 50612 NG_001275,U88432,AC097709 GRO1P|GROP|MGSAP|SCYB1P pseudo 735621 CXCL2 chemokine (C-X-C motif) ligand 2 1580863 2834384,9873037,2643119,19435811,19369450,19258923,18835392,18322244,18191274,17999991,17944017,17703412,17466952,16697212,16421598,15614130,15489334,12892904,12556377,12508094,12477932,12419803,11559650,11134351,10928473,10725737,10600366,9843467,9277410,9260277,8702798,7864661,2341726,2217207,2201751,2129556,2078213,1906501,18240029,20056178,20162422,20185584,20237496,18577758 2920 NM_002089,AC093677,CH471057,U03019,AF043340,BC015753,BC053653,BX334969,CR542171,CR617096,M36820,M57731,X53799 NP_002080,EAX05700,EAX05701,AAA03453,AAC03540,AAH15753,CAG46968,AAA63183,AAA63182,CAA37808,P19875,Q6LD33 Hs.75765 CINC-2a|GRO2|GROb|MGSA-b|MIP-2a|MIP2|MIP2A|SCYB2 C-X-C motif chemokine 2|GRO2 oncogene|MGSA beta|MIP2-alpha|gro-beta|growth-regulated protein beta|macrophage inflammatory protein 2-alpha|melanoma growth stimulatory activity beta protein-coding 1348459 CXCL3 chemokine (C-X-C motif) ligand 3 1580863 10095777,19448742,19369450,19258923,17703412,17466952,17389786,16356540,16341674,15489334,15340161,12734364,12477932,9873037,9322516,9277410,8702798,8344798,8166297,2217207,2201751,2129556,1906501,2834384,18577758,20628624,18240029,19741597,20056178,20162422,20237496,20503287 2921 NM_002090,AC097709,CH471057,U03020,AK307064,AK311367,AW079760,BC016308,BC065743,BM828712,CR591181,M36821,X53800,HI519536 NP_002081,AAY41006,EAX05697,EAX05698,AAA03454,AAH16308,AAH65743,AAA63184,CAA37809,P19876,Q6LD32,ABW03903,ACE87169,ACE86488,CBX54349 Hs.89690 CINC-2b|GRO3|GROg|MIP-2b|MIP2B|SCYB3 C-X-C motif chemokine 3|GRO-gamma|GRO-gamma(1-73)|GRO3 oncogene|MGSA gamma|MIP2-beta|growth-regulated protein gamma|macrophage inflammatory protein 2-beta|melanoma growth stimulatory activity gamma protein-coding 1348297 CXCL5 chemokine (C-X-C motif) ligand 5 The protein encoded by this gene is an inflammatory chemokine that belongs to the CXC chemokine family. This chemokine is produced concomitantly with interleukin-8 (IL8) in response to stimulation with either interleukin-1 (IL1) or tumor necrosis factor-alpha (TNFA). This chemokine is a potent chemotaxin involved in neutrophil activation. [provided by RefSeq] 1580863 19567485,10820279,7929219,10463948,21034724,20630876,19258923,19035625,18769620,18570917,18413816,18320069,17878384,17761179,17703412,17549409,17479287,17428364,17052298,17022986,16635746,16574090,15714497,15489334,15021975,14967364,14711052,14644041,13679391,13679321,12950257,12751040,12680872,12665801,12477932,12468547,11468158,11106948,10095777,10068592,9692902,9365115,9252512,8702798,8580362,8083342,7999089,7828901,1744577,16567110,20501684,18240029,18413205,19047312,19258635,19356715,19506876,19646363,19724852,19838218,20137269,20503287,18577758 6374 NM_002994,AC097709,AF349466,AJ315732,CH471057,L37036,U12709,AK026546,AK312128,BC008376,BT006807,BU169770,BU626570,CB529782,CR457428,X78686,FB342965,FB711088 NP_002985,AAY41005,AAK29641,CAC42884,EAX05696,AAA86426,AAA62475,BAG35064,AAH08376,AAP35453,CAG33709,CAA55355,P42830,Q6I9S7,ABM86473,ABW03807,CAR81483,CAS91499 Hs.89714 ENA-78|SCYB5 C-X-C motif chemokine 5|ENA-78(1-78)|epithelial-derived neutrophil activating protein 78|epithelial-derived neutrophil-activating peptide 78|epithelial-derived neutrophil-activating protein 78|neutrophil-activating peptide ENA-78|neutrophil-activating protein 78|small inducible cytokine B5|small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)|small-inducible cytokine B5 protein-coding 1345336 CXCL6 chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) 1580863,4892029,4892030,4892031 20507572,20628624,18577758,8399143,9164944,19369450,19258923,19240061,18782286,18563170,18443119,17827342,17703412,17022986,15815621,15652347,15489334,15342556,15214047,12882792,12628493,12591113,12533683,12524079,12477932,10593335,10343098,9692902,9465307,9057843,8423327,12950257,18240029,18842116,20503287 4892029,4892030,4892031 6372 NM_002993,AC108029,CH471057,U83303,AK311981,BC013744,BP204144,CR614096,CR623302,U81234,Y08770 NP_002984,AAY40939,EAX05690,AAC51337,AAC51338,BAG34920,AAH13744,AAD00506,CAA70023,O00172,P80162,ABM82426,ABM85618 Hs.164021 CKA-3|GCP-2|GCP2|SCYB6 C-X-C motif chemokine 6|OTTHUMP00000218985|Small inducible cytokine subfamily B (Cys-X-Cys), member b|chemokine alpha 3|granulocyte chemotactic protein 2|small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)|small-inducible cytokine B6 protein-coding 1348195 CXCL9 chemokine (C-X-C motif) ligand 9 The function of this gene has not been specifically defined; however, it is thought to be involved in T cell trafficking. This gene has been localized to 4q21 with INP10, which is also a member of the chemokine family of cytokines. [provided by RefSeq] 1580863 11449350,11423172,11422029,11390394,11208713,11157474,11110785,10233762,9730616,9660793,8976378,7595201,2115167,11523044,10903763,8476424,10570316,10201891,10201901,19410617,19344719,19340290,19274094,19258923,19157479,18415893,18338951,18292502,17975089,17892861,17875534,17703412,17703315,17490641,17262710,17255201,16583210,16243485,16210647,16200621,15489334,15150261,15113590,15081261,14550288,14507644,12946268,12884299,12856973,12847282,12782716,12539042,12477932,12384933,12270371,12185171,12162873,12107104,2834384,20137825,19929857,20456109,17207965,18240029,18413205,18930766,19258635,19459809,19565490,19639049,19800124,19898927,20038462,20237496,20503287,20299237,20485444,20628624,20810571 4283 NM_002416,AC112719,CH471057,AK311852,BC025745,BC042178,BC063122,BC095396,X72755 NP_002407,EAX05763,EAX05764,BAG34794,AAH63122,AAH95396,CAA51284,Q07325,ADQ32101 Hs.77367 CMK|Humig|MIG|SCYB9|crg-10 C-X-C motif chemokine 9|gamma-interferon-induced monokine|monokine induced by gamma interferon|monokine induced by interferon-gamma|small-inducible cytokine B9 protein-coding 1350447 CXCR3 chemokine (C-X-C motif) receptor 3 This gene encodes a G protein-coupled receptor with selectivity for three chemokines, termed IP10 (interferon-g-inducible 10 kDa protein), Mig (monokine induced by interferon-g) and I-TAC (interferon-inducible T cell a-chemoattractant). IP10, Mig and I-TAC belong to the structural subfamily of CXC chemokines, in which a single amino acid residue separates the first two of four highly conserved Cys residues. Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Inhibition by Bordetella pertussis toxin suggests that heterotrimeric G protein of the Gi-subclass couple to this protein. Signal transduction has not been further analyzed but may include the same enzymes that were identified in the signaling cascade induced by other chemokine receptors. As a consequence of chemokine-induced cellular desensitization (phosphorylation-dependent receptor internalization), cellular responses are typically rapid and short in duration. Cellular responsiveness is restored after dephosphorylation of intracellular receptors and subsequent recycling to the cell surface. This gene is prominently expressed in in vitro cultured effector/memory T cells, and in T cells present in many types of inflamed tissues. In addition, IP10, Mig and I-TAC are commonly produced by local cells in inflammatory lesion, suggesting that this gene and its chemokines participate in the recruitment of inflammatory cells. Therefore, this protein is a target for the development of small molecular weight antagonists, which may be used in the treatment of diverse inflammatory diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 633970,2311364,2311376,2311381,2311383,1598500,1580863,1598501,1598502 10942362,10741397,10903763,10903743,9064356,19344719,19258923,19232748,19106589,19017998,18962861,18832436,18798334,18761554,18729739,18689270,18616679,18497951,18485912,18453591,18375741,18291705,18280341,18174362,18037659,17947699,17912012,17703412,17615381,17560677,17457216,17363734,17339184,17251291,17142784,17142783,17018607,16934957,16930533,16861617,16847335,16806233,16787707,16733654,16679918,16456020,16455991,16368892,16339779,16243485,16127166,16043121,16034118,16033640,15885315,15879427,15856455,15843529,15808644,15725351,15713799,15687242,15578697,15528361,15501397,15489334,15328188,15273303,15265234,15254596,15181567,15155273,15150261,15126579,14742268,14657006,14630801,14618028,14578618,12960302,12960247,12953097,12919091,12884299,12819030,12782716,12750173,12688353,12571234,12517959,12477932,12445801,12444109,12425561,12356205,12270371,12097412,12070001,12055238,12016104,11990865,11966764,11739530,11714650,11559369,11554781,11196695,11160352,11134180,10900358,10666479,10627472,10393705,10233762,9660793,9625760,9466968,9419219,8666380,2834384,20379873,20041963,15518810,11083865,20429924,17666357,18240029,19380511,19539215,19641142,19703720,19734217,19735481,19758167,19767105,19800124,20047517,20059481,20079227,20096889,20164417,20237496,20503287,20185576,20203286,20228225,20377416,20485444,20529825,20733031 633970,2311364,2311376,2311381,2311383,1598500,1598501,1598502 2833 HI574346,NM_001142797,NM_001504,AB032735,AB032736,AL590763,CH471132,CQ834242,U32674,Z79783,AF469635,AK313679,AY242128,BC034403,X95876 CBX47662,NP_001136269,NP_001495,BAA92297,BAA92298,EAX05283,CAH05336,AAC50505,CAB02143,AAP55851,BAG36429,AAO92295,AAH34403,CAA65126,P49682,ABM83386,ABM86599 Hs.198252 CD182|CD183|CKR-L2|CMKAR3|GPR9|IP10-R|Mig-R|MigR C-X-C chemokine receptor type 3|CXC-R3|CXCR-3|G protein-coupled receptor 9|IP-10 receptor|IP10 receptor|Mig receptor|chemokine (C-X-C) receptor 3|interferon-inducible protein 10 receptor protein-coding 732176 CXCR4 chemokine (C-X-C motif) receptor 4 This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 734860 17947541,17763975,18949410,18948617,18923649,18834145,18829537,18820725,18812968,18799424,18798091,18781098,18775311,18769446,18765807,18760839,18760838,18707241,18701133,18698020,18696160,18692524,18653785,18636124,18634924,18632580,18624931,18599607,18593989,18570923,18568019,18562079,18556411,18524826,18519809,18511598,18502034,18487224,18461161,18448868,18443596,18431597,18416455,18373506,18365549,18357387,18339870,18339860,18337451,18334485,18292939,18288973,18286257,18281050,18274673,18239145,18235009,18234887,18219852,18210030,18206727,18201276,18200497,18182005,18175225,18155192,18097955,18089812,18087217,18083706,18081034,18040858,18037996,18036244,17991743,17964871,9468539,8276799,12421915,10754293,10644702,10570282,10942389,10802710,10228019,12091904,15174142,10583963,10415069,10393923,19523923,19521120,19513547,19497995,19496172,19494283,19473177,19472013,19438749,19433312,19373784,19352387,19351212,19340288,19336886,19336475,19327121,19305148,19302975,19297481,19272813,19252530,19240061,19228923,19212630,19200444,19199057,19196101,19178925,19148483,19147814,19139298,19136936,19116316,19115008,19107931,19082444,19074885,19066282,19064997,19053768,19042019,19035451,19025611,19020745,19020538,19017998,19008040,19002187,18957686,18954561,17947233,17925864,17916907,17895991,17894415,17893878,17889832,17888880,17881971,17875700,17846797,17768666,17765649,17715399,17715128,17706641,17687643,17676665,17650669,17641542,17634424,17620369,17606439,17596666,17594938,17574038,17562613,17559806,17521613,17510563,17507486,17504381,17488655,17461449,17459055,17435771,17379424,17350297,17346946,17328838,17327270,17262717,17253948,17251291,17202224,17198877,17188679,17176471,17136117,17130833,17119115,17082613,17075975,17070589,17056591,17038674,17032700,17023512,16990599,16987062,16969502,16948905,16948134,16946301,16943240,16929176,16929169,16928758,16919488,16888620,16886061,16877302,16863915,16823836,16802356,16756955,16756721,16740704,16679918,16675573,16638848,16618732,16585856,16528367,16494621,16489019,16467205,16368946,16365278,16327980,16322285,16284526,16230077,16204649,16179731,16172123,16114056,16084492,16047221,16044003,15998835,15995960,15880586,15867478,15844659,15843590,15831676,15819887,15814634,15806155,15805285,15802268,15794931,15787642,15784966,15781337,15753377,15737629,15705741,15701832,15687242,15681827,15670831,15662133,15660419,15650174,15632118,15618472,15615703,15608062,15598422,15588345,15585836,15585097,15549771,15548717,15548713,15542430,15540205,15536192,15492752,15489334,15486895,15467730,15454484,15377464,15363550,15358596,15328206,15328152,15251986,15235108,15225616,15201990,15184910,15180966,15169555,15128813,15123627,15117454,15054042,15048928,15033938,15033669,15026622,15019705,14995074,14990729,14988150,14982745,14973260,14764445,14715575,14688392,14684377,14672331,14630801,14602072,14597738,14595012,14576059,14567988,14555820,13679920,12960231,12927045,12894851,12882661,12882655,12853157,12832058,12791666,12783211,12775414,12766157,12761880,12730102,12726730,12705474,12692554,12690099,12651900,12634405,12609846,12605695,12586555,12555204,12555203,12531874,12519884,12519755,12499259,12488503,12485835,12477932,12477874,12433920,12429730,12393663,12393569,12388552,12370187,12368322,12368305,12356205,12355376,12351385,12239174,12239139,12218052,12208881,12193696,12171912,12163560,12093918,12034737,12004084,11994538,11994484,11983855,11953881,11937572,11929756,11920324,11912162,11880384,11878912,11876757,11867624,11693435,11668182,11559423,11278278,11175286,11157475,10756055,10506573,10480633,10452968,10233851,10089882,10074122,9973525,9933168,9879064,9765440,9634238,9634237,9599023,9461627,9379028,8929542,8849450,8752281,8752280,8674119,8629022,8329116,8325644,8234909,7592830,7505609,15183061,15509740,16005638,15258189,15161081,14694113,14640682,14505910,12871111,9710449,8640552,16375941,16631222,16978607,16524887,17010165,17011204,16841089,17121788,16784459,11551942,11414813,11413305,11333905,10651866,10446313,10393974,9658081,9653130,9601645,9696823,9780207,16966601,16769099,16702010,11356952,10801487,9721247,9614108,9744279,15479838,15308751,15047829,10864687,10559349,10438870,10339592,10229873,11342415,10438703,10358157,15719026,15327899,11602639,11462036,11141237,10704341,10623764,16188969,15710459,12857973,11698270,10758170,11533159,11162839,11069996,10941932,11711593,11468147,11390582,12873764,11591141,11119612,16227248,11711617,11709091,11689632,11679153,11529558,11390601,11278567,11877445,11799176,11931835,12551992,15972662,12843275,11591370,16697675,11027346,10772939,9362541,16378977,15890935,12490404,11153675,11118068,10544150,10357469,10329539,9653051,9600268,9261451,9184207,12502809,10860877,10825158,9151868,16306611,15992849,15748209,15351504,15279544,15113900,14990703,12963807,12873765,12834106,12713058,11595336,11162626,10602722,9770524,9632631,9359702,9031325,8976200,11861874,11752220,11602715,11517394,11489906,11464139,11426226,11408611,11397808,11356967,11313374,11265761,11264367,11115360,11086073,11024154,11005830,10903920,10903911,10877489,10875613,10816381,10738970,10669334,10600606,10590121,10590105,10585143,10582593,10555208,10505675,10487781,10482576,10449282,10430052,10371171,10370370,10364484,10029247,9882290,9736741,9499115,9499113,9302439,9300725,9024623,9020356,8995603,8898753,8805353,118789,12354773,15452229,15857508,19106094,19774645,20007689,20338046,20439195,19563077,20465832,20141446,20177796,20460402,20540706,20616219,20661426,2834384,17456315,20036848,20492653,19570110,19932585,18851783,19615218,20599766,20450430,18836306,19513623,20505072,20568229,20594270,20646340,20651371,20133817,20525755,20607251,20728717,20876529,20929726,20956518,18577758,20865359,10521508,16836911,17077324,17355795,17476338,17545018,18240029,18803056,18807177,19019622,19113880,19125297,19260802,19335218,19391039,19460858,19476565,19520808,19525448,19525953,19550128,19551455,19567784,19568410,19580679,19584257,19588204,19593633,19605489,19654311,19665027,19671192,19688824,19703720,19730683,19731977,19735481,19761697,19762327,19765831,19769961,19784070,19796655,19812192,19812382,19816083,19816596,19820417,19825996,19830694,19837984,19859817,19879194,19885584,19912363,19921580,19923906,19950235,19956569,20023696,20025867,20028517,20035824,20048153,20051874,20053635,20067991,20068066,20071457,20084476,20102637,20109310,20118565,20134207,20154716,20159979,20206813,20228059,20388788,20388803,20421499,20722038,20801883,19615279,19716197,20196768,20484957,20622011,20637871,21059341,20629629,21071054,20710056,19492159,19913121,20502526,20573813,20585037,20628086,20660740,20829512,20847314 734860 7852 CR605131,CR610268,CR614199,CR614594,CR614663,CR619476,CR623838,D10924,L01639,L06797,M99293,X71635,NM_001008540,NG_011587,AB065584,AC068492,AF005058,AF052572,AJ224869,AY728138,CH471058,Y14739,AF025375,AF147204,AF348491,AK129916,AK296674,AK312244,AY242129,AY826773,BC020968,BT006660,CR594428,CR594588,CR596547,CR598681,CR598713,CR601301,CR604071,NM_003467,HB976927,HC295432 BAA01722,AAA16594,AAA03209,AAA16617,CAA50641,P61073,Q5MIL4,Q8NH28,Q9BXA0,ACE87329,ACE86647,NP_003458,NP_001008540,BAC05813,AAY24044,AAB93982,AAC34581,CAA12166,AAU05775,EAX11616,CAA75034,AAB81970,AAF00130,AAK29630,BAG59271,BAG35177,AAO92296,AAV97584,AAH20968,AAP35306,CBG22675,CBJ06540 Hs.593413 CD184|D2S201E|FB22|HM89|HSY3RR|LAP3|LCR1|LESTR|NPY3R|NPYR|NPYRL|NPYY3R|WHIM C-X-C chemokine receptor type 4|CD184 antigen|CXC-R4|CXCR-4|SDF-1 receptor|chemokine receptor (lcr1)|fusin|leukocyte-derived seven transmembrane domain receptor|leukocyte-derived seven-transmembrane-domain receptor|lipopolysaccharide-associated protein 3|neuropeptide Y receptor Y3|seven transmembrane helix receptor|seven-transmembrane-segment receptor, spleen|stromal cell-derived factor 1 receptor protein-coding 1345690 CXCR5 chemokine (C-X-C motif) receptor 5 This gene was identified as a gene specifically expressed in Burkitt's lymphoma and lymphatic tissues. The protein encoded by this gene is predicted to be a seven transmembrane G protein- coupled receptor and belongs to the CXC chemokine receptor family. BLC, a B-lymphocyte chemoattractant, was identified to be a specific ligand for this receptor. Studies of this gene and its mouse conterpart strongly suggest the essential function of this gene in B cell migration and localization within specific anatomic compartments, such as follicles in lymph nodes as well as in spleen. Two alternatively spliced variants of this gene exist. [provided by RefSeq] 1580863 12620646,12578791,12477932,12447991,12324654,12171958,12070001,11714765,11688722,9486651,9463416,7639692,19536742,19610059,19955043,20412587,1425907,19375853,19228923,19074885,18780835,18528326,17786442,17652619,17018614,17015714,16888899,16344560,16318584,16225771,15780119,15713799,15580304,14763921,14618028,19913121,20628086,18577758 643 NM_001716,NM_032966,AP004609,CH471065,EF064770,EF444957,AK291512,BC110352,DA815880,X68149,X68829 NP_001707,NP_116743,EAW67415,EAW67416,ABK41953,ACA05956,BAF84201,AAI10353,CAA48252,CAA48723,P32302,Q2YD84 Hs.113916 BLR1|CD185|MDR15|MGC117347 Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)|Burkitt lymphoma receptor 1, GTP-binding protein|C-X-C chemokine receptor type 5|CXC-R5|CXCR-5|MDR-15|monocyte-derived receptor 15 protein-coding 1352090 CXCR6 chemokine (C-X-C motif) receptor 6 1580863 9166430,9230441,19231068,19074906,18760678,18656707,18452560,18293410,18250446,18194461,17725420,17640964,17615381,16200580,15817921,15736401,15650194,15489334,14634054,12914753,12761559,12477932,12070001,12044980,11290797,11017100,10975845,10933620,9285716,16470129,15992849,15053339,10877489,11711593,10590105,9736741,16870145,20628624,20646641,20704485,18577758,18240029,19690611,20056178 10663 NM_006564,AC099782,AF029759,AY322543,CH471055,EF064741,EU076974,AF007545,AK313754,BC033584,CR624554,U73529,U73531,Y13248 NP_006555,AAG21918,AAP84356,EAW64754,ABK41924,ABV02579,AAB64221,BAG36493,AAH33584,AAB61456,AAB61457,CAA73698,O00574,ABM83027,ABM86220 Hs.34526 BONZO|CD186|STRL33|TYMSTR C-X-C chemokine receptor type 6|CDw186|CXC-R6|CXCR-6|G protein-coupled receptor|G-protein coupled receptor STRL33|G-protein coupled receptor bonzo|OTTHUMP00000209998 protein-coding 1343702 CXCR7 chemokine (C-X-C motif) receptor 7 This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq] 1580863 20529825,17474147,19309748,18956235,18653785,18214534,18057003,17898181,17363734,16940167,16455976,16107333,15815621,15489334,12477932,12118328,10623723,8198609,1675791,1662665,1315461,20525755,20887389,20956518,20889540,18577758,20380740,20617529,2834384,20161793,18240029,19525223,19641136,19794961,20018651,20036838,20056178,20068066,20109310,20233927,20388803 57007 NM_020311,AC079611,CH471063,U73141,AF030297,AK291659,BC008459,BC036661,BM925428,BP426139,CR616388,DB455412,DQ822477,M64749,U67784 NP_064707,AAX93086,EAW71092,AAB18130,AAB94130,BAF84348,AAH36661,ABH01258,AAA62370,AAB16913,P25106,ABM82167,ABM85352 Hs.471751 CMKOR1|GPR159|RDC1 C-X-C chemokine receptor type 7|CXC-R7|CXCR-7|G protein-coupled receptor|G-protein coupled receptor 159|G-protein coupled receptor RDC1 homolog|OTTHUMP00000203011|RDC-1|chemokine orphan receptor 1 protein-coding 1321844 CXXC1 CXXC finger 1 (PHD domain) Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and regulate gene expression (Carlone and Skalnik, 2001 [PubMed 11604496]).[supplied by OMIM] 1580863 10688657,19433449,18680430,18082152,17328666,16713569,16253997,15761153,15489334,12477932,12200428,11604496,11572867,11256614,11230166,10799292,17998332,17355966,20062064,19951360 30827 NM_001101654,NM_014593,AC090246,CH471096,AA236925,AB031069,AB209883,AF149758,AK294645,AK314886,AL136862,BC002504,BC009188,BC014940,BC015733,BC029922,BX647189,CR590242,CR604821,CR604901,CR621333 NP_001095124,NP_055408,EAW62968,EAW62969,EAW62970,BAA96307,BAD93120,AAF37799,BAG57822,BAG37400,CAB66796,AAH14940,AAH15733,AAH29922,Q59EC8,Q9P0U4,ABM92247,ABM84724 Hs.180933 2410002I16Rik|5830420C16Rik|CFP1|CGBP|HsT2645|PCCX1|PHF18|SPP1|ZCGPC1|hCGBP CXXC finger 1 (PHD domain)|CXXC-type zinc finger protein 1|CpG binding protein|DNA-binding protein with PHD finger and CXXC domain|PHD finger and CXXC domain-containing protein 1|cpG-binding protein|zinc finger, CpG binding-type containing 1 protein-coding 1354389 CXXC4 CXXC finger 4 68802,1580863 18931698,12477932,11113207,20332099 68802 80319 NM_025212,AC093628,CH471057,AF272159,AK127778,BC119751,BC119752 NP_079488,AAY40933,EAX06175,AAG42072,AAI19752,AAI19753,Q9H2H0 Hs.12248 IDAX|MGC149872 CXXC finger 4|CXXC-type zinc finger protein 4|Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)|OTTHUMP00000161763|inhibition of the Dvl and axin complex protein protein-coding 1345048 CXXC5 CXXC finger 5 737633,1580863 19557330,19182210,19001364,15231748,14702039,12761501,12477932,11042152,9110174,8619474,19865112,20220130 737633 51523 NM_016463,AC113361,CH471062,AB097005,AB097032,AF151029,AK001782,AK024338,AK314420,AY007103,BC002490,BC006428,BC017439,BC024040,BC041013,BC050046,CR611313,CR614582,GQ379202 NP_057547,EAW62090,EAW62091,EAW62092,EAW62093,BAC77358,BAC77385,AAF36115,BAA91907,BAG51292,AAG01986,AAH02490,AAH06428,AAH17439,AAH24040,AAH41013,ACU80469,Q7LFL8,ABM83515,ABM86733 Hs.189119 CF5|HSPC195|RINF|WID CXXC finger 5 protein|CXXC-type zinc finger protein 5|OTTHUMP00000223619|WT1-induced Inhibitor of Dishevelled|putative MAPK-activating protein PM08|putative NF-kappa-B-activating protein 102|retinoid-inducible nuclear factor protein-coding 1626694 CXXC6P1 CXXC finger 6 pseudogene 1 441662 NG_006594,AL445647 CXXC6P1 pseudo 1352055 CXorf1 chromosome X open reading frame 1 15772651,15489334,12477932,9881668,9110174,8619474 9142 NG_016553,NM_004709,AL109653,CH471175,Y10607,AF007148,AL134413,BC113600,BC113604,Y08902 NP_004700,EAW53956,CAA71614,AAI13601,AAI13605,CAA70110,O96002,ADR83470 Hs.106688 MGC142160|MGC142164 hypothetical protein LOC9142 protein-coding 1346238 CXorf10 chromosome X open reading frame 10 14702039 93949 AK021694 Hs.504534 FLJ11632 protein-coding 1347306 CXorf15 chromosome X open reading frame 15 18068885,18029348,17081983,16964243,15911876,15184072,14702039,12477932,20936779,16344560,16831913 55787 NM_018360,AL929302,BX004861,CH471074,AF143740,AK002071,AK123142,AY739713,BC101572,BC101576,AA731379,AK090800,AW197225,DA516680,DB098819,NG_016267,NM_001168683,U56251 NP_060830,CAI41279,CAI41713,EAW98918,AAF70546,BAA92068,AAW65982,AAI01573,AAI01577,Q9NUQ3,NP_001162154 Hs.555961 CXorf15|ELRG|FIAT|FLJ11209|FLJ33481|LSR5|MGC126621|MGC126625 environmental LPS-responding|environmental lipopolysaccharide-responding gene protein|factor inhibiting ATF4-mediated transcription|factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription|gamma-taxilin|lipopolysaccharide specific response-5 protein|lipopolysaccharide-specific response protein 5 protein-coding 1605147 CXorf18 chromosome X open reading frame 18 14702039,16344560 619455 AK093505,AL050308,AL121881,DA220378,NR_037183,XR_109779,XR_115609 Q8N9U9 Hs.590784 FLJ36186 miscrna 1604407 CXorf19 chromosome X open reading frame 19 727686 NG_005696,AL035262 CAI42898,B1AK76 CXorf19 pseudo 1347440 CXorf21 chromosome X open reading frame 21 737633 18029348,15489334,14702039,12477932,17207965,16344560 737633 80231 NM_025159,AC005913,CH471074,AK021639,BC020611,BX281759,DA921873,NG_016375 NP_079435,EAW99052,BAB13860,AAH20611,Q9HAI6,ADQ32111 Hs.665009,Hs.727927 FLJ11577 5430427O19Rik|hypothetical protein LOC80231 protein-coding 1352989 CXorf22 chromosome X open reading frame 22 737633 16344560,15772651,15489334,14702039,12477932 737633 170063 NM_152632,AL590065,CH471074,AK126295,BC027936,DA315191,DV080631,CD686506,NG_021289 NP_689845,CAI40038,EAW99074,EAW99075,BAC86517,AAH27936,Q6ZTR5 Hs.680415 MGC34831 hypothetical protein LOC170063 protein-coding 1348660 CXorf23 chromosome X open reading frame 23 14702039,12477932 256643 AK127709,NM_198279,AL772197,CH471074,AK094661,AL833278,BC126172,BC143906,BC093092,NG_021326 NP_938020,CAH71712,CAH71713,CAM15087,EAW98968,EAW98969,EAW98970,BAC04399,BAC87094,AAI26173,AAI43907,A2AJT9 Hs.28896 hypothetical protein LOC256643 protein-coding 1350751 CXorf24 chromosome X open reading frame 24 737633 12477932 737633 203414 XM_926772,XM_937342,Z84466,BC025179 XP_931865,XP_942435,CAI42471,AAH25179,Q8TB33 Hs.597617 protein-coding 1348142 CXorf25 chromosome X open reading frame 25 14702039 392459 AL009172,NR_033924,AK094108 Hs.562045 CXorf25|FLJ36789|NCRNA00236 pseudo 1344013 CXorf26 chromosome X open reading frame 26 737633 17207965,18029348,15790807,15489334,12477932,11042152,16169070,19615732 737633 51260 NM_016500,AC004677,CH471104,CS072317,AY927616,BC001220,BC051894,AC233281 ADQ32506,NP_057584,EAW98621,EAW98622,EAW98623,EAW98624,CAI93455,AAH01220,AAH51894,Q9BVG4,Q9P0N4 Hs.370100 MGC874 2610029G23Rik|hypothetical protein LOC51260 protein-coding 1353521 CXorf27 chromosome X open reading frame 27 18029348,12477932,9700202 25763 NG_021354,NM_012274,AL121578,CH471141,AF049615,AW291697,BC104428,BC104429,BC113024,BC113025 NP_036406,EAW59451,AAC26851,AAI04429,AAI04430,AAI13025,AAI13026,O75409 Hs.122959 1700054O13Rik|HIP17|HYPM huntingtin yeast partner M|huntingtin-interacting protein M protein-coding 1602943 CXorf30 chromosome X open reading frame 30 11329013 645090 NM_001098843,AL606467,AL606516,AI648401,AI822140,BG186336,BG197183,BX111076,CD106515,DV080142,DV080305,DV080613,DY655297 CAI41431,CAO72050,NP_001092313,A6PW82 Hs.632791 RP11-87M18.1 putative uncharacterized protein CXorf30 protein-coding 1347092 CXorf35 chromosome X open reading frame 35 389878 XM_374333 1343794 CXorf36 chromosome X open reading frame 36 1304513 19377476,11181995,18029348,16344560,15342556,14702039,12975309,12477932,11944989 1304513 79742 NM_176819,NM_024689,AC136488,AC136489,CH471164,AF289581,AK024165,AK055190,AK056730,AK094014,AK094877,AK294472,AY358764,BC035375,BC137528,BC137529,BP231945,CR627166,DA378381,DC332862,NG_027895 NP_789789,NP_078965,EAW59250,EAW59251,EAW59252,EAW59253,AAL55765,BAB14843,BAC04447,BAH11781,AAQ89124,AAI37529,AAI37530,Q8N1U0,Q8WZ11,Q9H7Y0 Hs.98321 4930578C19Rik|DKFZp313K0825|EPQL1862|FLJ14103|FLJ55198|FLJ55198,|PRO3743|bA435K1.1 hCG1981635|hypothetical protein LOC79742 protein-coding 1352581 CXorf38 chromosome X open reading frame 38 15489334,14702039,12477932,16344560,8889548 159013 NM_144970,AC092473,AC093029,CH471141,AK123989,AK304539,AK315384,AL832829,BC025334,AK095710,BM969708,CV572553,DB207233,NG_016376,AK021629 NP_659407,EAW59421,EAW59422,EAW59423,BAC04615,BAG53990,BAG65338,BAG37777,CAI46149,AAH25334,Q8TB03,ABM83078,ABM86274 Hs.495961 MGC39350 OTTHUMP00000025775|OTTHUMP00000025776|hypothetical protein LOC159013 protein-coding 1348985 CXorf39 chromosome X open reading frame 39 18029348,15772651,15489334,14702039,12477932 139231 NM_207318,AL049631,AL135959,CH471120,AK024844,AK091221,BC016683,BC017665,BC035886,BC057847,XR_109764,XR_113311,XR_115523 CAQ08094,NP_997201,CAI42479,EAX02757,EAX02758,EAX02759,EAX02760,BAG52310,AAH16683,AAH17665,AAH57847,Q6PEV8 Hs.592223,Hs.496535 CXorf39 family with sequence similarity 199, X-linked|hypothetical protein LOC139231 protein-coding 1344025 CXorf40A chromosome X open reading frame 40A 15541360,16383041,16215939,15772651,15489334,14702039,12477932,10848801,9147653,8717057,17557240,16712791 91966 NM_178124,AF011889,CH471171,AK055235,AK291899,AK294153,AK300334,AY074889,BC065539,BC104930,BC104932,BC143660,BC143661,BC143662,CR596674,CR603774,CR605567,CR605594,CR614537,CR614798,CR617998,CR626827,AC233288,AJ712320,AW517432,BE265359,CB156531,CR593214,L43576,NM_001171907,NM_001171908,NM_001171909,U66049,U66050,BG831626 NP_835225,EAW61276,EAW61277,EAW61279,BAF84588,BAH11684,BAH13262,AAL71889,AAH65539,AAI04931,AAI04933,AAI43661,AAI43662,AAI43663,Q8TE69,NP_001165378,NP_001165379,NP_001165380 Hs.534641,Hs.719441 CXorf40|EOLA1|FLJ52212 OTTHUMP00000217644|OTTHUMP00000217645|OTTHUMP00000217646|OTTHUMP00000217647|OTTHUMP00000217648|OTTHUMP00000217649|OTTHUMP00000217650|endothelial-overexpressed lipopolysaccharide-associated factor 1|protein CXorf40A protein-coding 1604879 CXorf40B chromosome X open reading frame 40B 16341674,15772651,15489334,12477932,9147653,8717057 541578 NM_001013845,BX927209,BC009523,BM847839,L43575,L43578,U66042 NP_001013867,CAI43190,CAI43191,AAH09523,Q5HY62,Q96DE9 Hs.545950 OTTHUMP00000032258|protein CXorf40B protein-coding 1353450 CXorf41 chromosome X open reading frame 41 737633 15489334,12601173,12477932,15772651 737633 139212 AI147427,NG_016377,NM_001169154,NM_173494,AL136112,CH471120,AY211928,BC033510 NP_001162625,NP_775765,CAB92764,EAX02716,EAX02717,AAO65181,AAH33510,Q9NQM4 Hs.128836 MGC35261|NYSAR97 hypothetical protein LOC139212|sarcoma antigen NY-SAR-97 protein-coding 1350809 CXorf42 chromosome X open reading frame 42 16344560,15489334,14702039,12477932 158801 NR_027131,AC002086,AK093895,BC022359,BC113730,BC113732,BX537594,CK905715,DB004517 BAC04246,CAD97792,Q8N9T2 Hs.442518 CXorf42|DKFZp686B1195|FLJ13381|FLJ36576|MGC142290|MGC142292 pseudo 1351399 CXorf45 chromosome X open reading frame 45 15772651,15489334,14702039,12477932,8125298,7505766,9373149 79868 XM_001713668,XM_001713667,AL049563,AL096764,AK026671,AK223154,BC117377,BC117379 XP_001713720,XP_001713719,BAB15521,BAD96874,AAI17378,AAI17380,Q9H5U8 Hs.443061 FLJ23018 protein-coding 1602011 CXorf46 chromosome X open reading frame 46 727694 AW161363 Hs.571694 protein-coding 1603232 CXorf47 chromosome X open reading frame 47 751581 BE732529,BE901994 protein-coding 1353544 CXorf48 chromosome X open reading frame 48 737633 18307534,15772651,15489334,14702039,12477932,17207965 737633 54967 NM_017863,NM_001031705,AL670455,CH471107,AF520814,AK000534,AY352211,BC020662 NP_060333,NP_001026875,CAI41607,CAI41608,EAX11734,AAP47205,BAA91237,AAQ90022,AAH20662,Q8WUE5,ADQ32264 Hs.272804 BJHCC20A|CT55|FLJ20527|RP13-565O16.1 BRCA2-interacting protein|cancer/testis antigen 55 protein-coding 2303429 CXorf49 chromosome X open reading frame 49 100130361 NM_001145140,BX276092 NP_001138612,A8MYA2 Hs.632817 hypothetical protein LOC100130361 protein-coding 2303482 CXorf49B chromosome X open reading frame 49B 100132994 NM_001145139,BX276092 NP_001138611 Hs.719592 hypothetical protein LOC100132994 protein-coding 1354319 CXorf50 chromosome X open reading frame 50 737633 12477932 737633 203429 AL353999,BC041962,NR_026595 ABM82563,ABM85753 Hs.725757 CXorf50 miscrna 1626521 CXorf50B chromosome X open reading frame 50B 16382448,15772651,15489334,12477932,11181995 653687 NR_026594,BX295541,CH471213,BC025725,DB480960 EAW71828 Hs.592230 CXorf50B miscrna 2293161 CXorf51 chromosome X open reading frame 51 100129239 NM_001144064,AL109836,AA417208,AI954759 NP_001137536 Hs.592233 hypothetical protein LOC100129239 protein-coding 1603201 CXorf56 chromosome X open reading frame 56 17353931,14702039,12477932,16344560,19377476,17207965 63932 NM_022101,AC004000,AC004913,AC005190,CH471161,AK026618,AK096297,AK298877,BC023506,BQ223940,DA590933,DA921725,DB033119,NG_016378,NM_001170569,NM_001170570 NP_071384,AAB96348,EAW89864,EAW89865,EAW89866,EAW89867,BAB15510,BAG53251,BAG60994,Q9H5V9,NP_001164040,NP_001164041,ADQ32208 Hs.248572 FLJ22965 OTTHUMP00000023905|OTTHUMP00000215632|OTTHUMP00000215639|hypothetical protein LOC63932 protein-coding 1605981 CXorf57 chromosome X open reading frame 57 16344560,15489334,14702039,12477932,15772651 55086 NG_021317,NM_001184782,AK001040,AK024253,AK291730,BC011483,BC033709,BC047503,BC054032,BC070110,DB065928,NM_018015,AL590808,AL606833,CH471120 NP_001171711,EAX02740,EAX02741,BAB14859,BAF84419,AAH11483,AAH33709,AAH54032,AAH70110,Q6NSI4,Q9H7W5,EAX02739,NP_060485,CAI41594,CAI41596,CAI41230,CAI41231,EAX02738 Hs.274267 FLJ10178|FLJ14191|RP11-647M7.1 OTTHUMP00000023785|hypothetical protein LOC55086 protein-coding 1605257 CXorf58 chromosome X open reading frame 58 15772651,15489334,14702039,12477932 254158 AC079376,CH471074,AK058173,BC117344,BC117346,BC144007,CR619818,NM_152761,NG_016380,NM_001169574 NP_689974,EAW99005,EAW99006,BAB71702,AAI17345,AAI17347,AAI44008,Q96LI9,ADR83134,NP_001163045 Hs.351265 FLJ25444 putative uncharacterized protein CXorf58 protein-coding 1605820 CXorf59 chromosome X open reading frame 59 15772651,15489334,14702039,12477932,19377476 286464 NM_173695,AL590065,AL603753,CH471074,AK093920,BC101698,BC101700,NG_016381 NP_775966,CAI41404,EAW99076,BAC04251,AAI01699,AAI01701,Q8N9S7 Hs.376425 FLJ36601|MGC126747|MGC126749|RP13-11B7.1 OTTHUMP00000023134|hypothetical protein LOC286464 protein-coding 1605263 CXorf61 chromosome X open reading frame 61 16651449,12477932 203413 NM_001017978,CH471234,Z96810,AK000618,AK026566,BC062223,AX061661,HC044605 EAW51499,CAI42798,AAH62223,Q5H943,NP_001017978,CAC25021,CBH30632 Hs.97892 CT83|FLJ20611|FLJ22913|KK-LC-1|KKLC1|RP3-452H17.2 cancer/testis antigen 83|kita-kyushu lung cancer antigen 1 protein-coding 1626579 CXorf62 chromosome X open reading frame 62 14702039 439943 AL353140,AK090929 BAC03549,Q8N2A0 FLJ33610|RP13-153N15.1 protein-coding 2299192 CXorf64 chromosome X open reading frame 64 15772651 100130613 NM_001122716,AL662896,NG_021226 NP_001116188,CAI41453,B1ATL7 Hs.130370 hypothetical protein LOC100130613 protein-coding 1606442 CXorf65 chromosome X open reading frame 65 15772651,8889549,12477932 158830 NM_001025265,AL590764,CH471132,AA889552,BC144434,W95038,DB457782,DB523273,NG_021141,NR_033212 NP_001020436,EAX05320,A6NEN9 Hs.443936 OTTHUMP00000023485|hypothetical protein LOC158830|uncharacterized protein LOC158830 protein-coding 1606098 CXorf66 chromosome X open reading frame 66 12477932 347487 NM_001013403,AL590077,AA758774,BC137148,BC137149,NG_021221 NP_001013421,CAI40419,AAI37149,AAI37150,Q5JRM2 Hs.121384 RP11-35F15.2|hypothetical protein LOC347487 protein-coding 1603340 CXorf67 chromosome X open reading frame 67 18264098,12477932 340602 NM_203407,AL158055,CH471180,BC046248 EAW89908,NP_981952,AAH46248,Q86X51 Hs.97053 MGC47837 protein-coding 1322199 CYB561 cytochrome b-561 1580863 20680310,18029348,7980462,14499595,18180394,15489334,14702039,12837283,12768339,12477932,7959749,7559396,7096323 1534 NM_001915,NM_001017916,NM_001017917,AC005828,CH471109,AK095244,AK294403,AK294630,AK301541,AK303177,AK316606,BC000021,BC002976,BC091485,BF206825,BM552101,BT007096,CR624200 NP_001906,NP_001017916,NP_001017917,EAW94322,EAW94323,EAW94324,EAW94325,EAW94326,BAG53013,BAH11756,BAH11829,BAH13511,BAH13913,BAG38193,AAH00021,AAH02976,AAH91485,AAP35760,P49447 Hs.355264 FRRS2 cytochrome b561|ferric-chelate reductase 2 protein-coding 1321956 CYB561D1 cytochrome b-561 domain containing 1 1580863 20125088,16710414,16344560,15489334,14702039,12477932,20383146 284613 AK092717,NM_182580,NM_001134400,NM_001134402,NM_001134403,NM_001134404,AL355145,CH471122,AI375149,AK096354,AK126707,AK128798,AK294992,AK299086,AK303546,BC093683,BC111999,BC143308,BX647509,DA054191,DC376706 NP_872386,NP_001127872,NP_001127874,NP_001127875,NP_001127876,CAI22939,CAI22940,CAI22941,EAW56388,BAC04767,BAC86652,BAC87612,BAG58058,BAG61150,BAG64572,AAH93683,AAI12000,Q5T6C3,Q6ZQS1,Q8N8Q1 Hs.514682 FLJ39035|FLJ44753|MGC138204|RP5-831G13.3 cytochrome b561 domain-containing protein 1 protein-coding 1353992 CYB561D2 cytochrome b-561 domain containing 2 1580863 16641997,15489334,12477932,11085536,9122200,16169070,19734123,17207965 11068 NM_007022,AC002481,CH471055,AF040704,AK291167,BC047691,BX641103,CR598666,CR612474 NP_008953,AAB67309,EAW65113,EAW65114,AAC70911,BAF83856,AAH47691,O14569,ADQ33030 Hs.149443 101F6|TSP10 OTTHUMP00000210677|cytochrome b561 domain-containing protein 2|putative tumor suppressor 101F6|putative tumor suppressor protein 101F6 protein-coding 736806 CYB5A cytochrome b5 type A (microsomal) 1599659,1599663,1580863 20511233,4030743,3951505,3178851,2752049,2123873,1840560,1396600,221468,199233,16712791,7668255,1712589,18299324,17691855,17622936,17446262,17320757,16679316,15831526,15687493,15489334,14985252,14739275,14733950,12477932,11867265,11329013,9813010,9760250,9601054,9398194,8262522,7733981,7649306,6102994,5062820,4993957,4770377,4373719,15680923,19997042,20080843 1599659,1599663 1528 NM_148923,NM_001914,AC090398,CH471117,L39945,AB209617,AK026310,BC015182,BG196223,CB112646,CR456990,M22865,M22976,M60174,S76422,NG_023211,NM_001190807,CA771478 NP_683725,NP_001905,EAW66544,EAW66545,AAA63169,BAD92854,AAH15182,CAG33271,AAA35729,AAA52133,AAA52165,P00167,Q59F44,Q9UML1,ABM82209,ABM85269,NP_001177736 Hs.465413 CYB5|MCB5 cytochrome b5|type 1 cyt-b5 protein-coding 735287 CYB5B cytochrome b5 type B (outer mitochondrial membrane) 15489334,14733950,14702039,12477932,12417987,11867265,14739275,20100355,20877624 80777 NM_030579,AC009032,AC026464,CH471092,AB009282,AK098148,AK125218,AK291576,BC004373,BC014431,BX647922,CR591022,CR591474,CR593982,CR599824,CR599834,CR601351,CR601527,CR605284,CR610358,CR610534,CR611151,CR611325,CR614836,CR616857,CR618100,CR621814,CR622662,CR623816,CR625442 NP_085056,EAW83275,EAW83276,BAA23735,BAF84265,AAH04373,AAH14431,CAI46070,O43169,Q5HYD9 Hs.461131 CYB5-M|CYPB5M|DKFZp686M0619|OMB5 OTTHUMP00000163977|cytochrome b5 outer mitochondrial membrane isoform|cytochrome b5 type B|cytochrome b5, outer mitochondrial membrane isoform|outer mitochondrial membrane cytochrome b5|type 2 cyt-b5 protein-coding 1603917 CYB5D1 cytochrome b5 domain containing 1 14702039,12477932 124637 NM_144607,AC104581,CH471108,AK022811,AK057061,AK125598,AK289520,BC060779 NP_653208,EAW90119,EAW90120,EAW90121,EAW90122,BAB71357,BAF82209,AAH60779,Q6P9G0 Hs.27475 FLJ32499 cytochrome b5 domain-containing protein 1 protein-coding 1606739 CYB5D2 cytochrome b5 domain containing 2 16344560,12477932,16712791 124936 NM_144611,NR_023346,NR_023347,AC087292,CH471108,AA479992,AK172844,AK313088,BC020263,BC051697,BX327481,CB112805,CR592653,CR596829,CR600228,CR621850,DA346215,EB386356,H57026 NP_653212,EAW90452,EAW90453,EAW90454,BAD18808,BAG35913,AAH20263,AAH51697,Q8WUJ1,ABM82622,ABM85803 Hs.513871 MGC32124 cytochrome b5 domain-containing protein 2|neuferricin protein-coding 1345596 CYB5P1 cytochrome b-5 pseudogene 1 1840560 1529 1349765 CYB5P2 cytochrome b-5 pseudogene 2 1712589,1712589 1530,100128621 AC009967,NG_016583 CYB5P2 pseudo 1352843 CYB5P3 cytochrome b-5 pseudogene 3 8262522,2775258 1531 AL110118,M25765,NG_002437 CYB5P3|Psgb-5-1 pseudo 1344592 CYB5P4 cytochrome b-5 pseudogene 4 8262522,2775258 1532 NG_001021,AL353132,M24781 CYB5P4|Psgb-5-2|bA189G24.1 pseudo 1347150 CYB5P5 cytochrome b-5 pseudogene 5 1533 1314495 CYB5R1 cytochrome b5 reductase 1 19913121,20628086,17207965,18029348,16303743,12975309,12477932,10611283,9760250,9373149,8125298,16713569,20379614,20877624 51706 AC096632,CH471067,CQ783902,CS072296,AF087912,AF091084,AF093822,AF125533,AF169481,AK074654,AK075304,AK123705,AK223416,AK295902,AK313333,AY359026,BC000034,BC018732,BC127945,CR594361,CR596793,CR598161,CR598525,CR600634,CR603725,CR604208,CR610895,CR611810,CR614397,CR616863,CR617411,CR618130,CR619842,CR620511,CR622867,CR623377,CR625837,NM_016243,CR626578,CR626777 NP_057327,EAW91451,EAW91452,EAW91453,EAW91454,CAF86916,CAI93434,AAP97209,AAC72953,AAP97218,AAF17227,AAF06147,BAC11115,BAD97136,BAG58694,BAG36137,AAQ89385,AAH18732,AAI27946,Q9UHQ9,ADQ31663 Hs.334832 B5R.1|B5R1|NQO3A2|humb5R2 NAD(P)H:quinone oxidoreductase type 3 polypeptide A2|NAD(P)H:quinone oxidoreductase type 3, polypeptide A2|NADH-cytochrome b5 reductase 1|OTTHUMP00000038998 protein-coding 1602002 CYB5R2 cytochrome b5 reductase 2 16712791,10611283,15858218,12477932,8889548,16189514,16713569,20877624 51700 NM_016229,AC104237,CH471064,AA814725,AB209000,AF169802,AI342011,AK290102,AK308543,AL133582,AY665398,BC001346,BG723242,BG772396,BM968347,CB149369 NP_057313,EAW68648,EAW68649,EAW68650,EAW68651,BAD92237,AAF04811,BAF82791,CAB63726,AAT75296,Q59GV9,Q6BCY4 Hs.414362 B5R.2 NADH-cytochrome b5 reductase 2|cytochrome b5 reductase b5R.2 protein-coding 731731 CYB5R3 cytochrome b5 reductase 3 This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. These two forms are resulted from alternative splicing of the gene. Mutations in this gene cause methemoglobinemias. [provided by RefSeq] 1580863,734886,1599771,1300048 16712791,18029348,19811411,19997042,3700359,1400360,9207238,18343696,17620407,16344560,15944396,15921385,15813912,15622768,15502298,15489334,15488472,15461802,15297856,15039026,12884529,12477932,12393396,10874300,10807796,10591208,9886302,9695975,9639531,9266404,9136051,9048929,8978818,8427971,8221686,8119939,7718898,7668255,6389526,4403130,3268037,3035541,2498303,2479590,2123873,2107882,2019583,1898726,1707593,1352356,1324793,221468,16009131 734886,1599771 1727 NM_001129819,NM_007326,NG_012194,AF061830,AF061831,AY341030,CH471138,M28705,M28706,M28707,M28708,M28709,M28710,M28711,M28712,M28713,Z93241,AF361370,NM_000398,BM564146,DA268749,NM_001171660,NM_001171661,AJ010116,AJ010117,AJ010118,AJ310899,AJ310900,AK124528,AK302204,AY421733,AY421734,BC004821,BP425383,BT009821,BX334220,BX366240,CB118906,CR456435,CR590472,CR591561,CR591876,CR593330,CR594068,CR594248,CR594565,CR596321,CR596646,CR596939,CR597031,CR597830,CR598100,CR600429,CR600483,CR601021,CR601590,CR602125,CR603135,CR604771,CR604882,CR607358,CR607839,CR610106,CR610296,CR610489,CR612466,CR613363,CR613744,CR614570,CR614892,CR615126,CR616501,CR617674,CR617720,CR618034,CR618233,CR620124,CR621834,CR623803,CR626640,DA548643,DA966919,DB029897,M16461,M16462,Y09501 NP_000389,NP_001123291,NP_015565,AAF06818,AAF06819,AAP88936,EAW73268,EAW73269,EAW73270,EAW73271,EAW73272,EAW73273,AAA59900,CAB42843,NP_001165131,NP_001165132,AAL87744,CAA09006,CAA09007,CAA09008,CAC84523,CAC84524,BAC85875,BAH13649,AAR38507,AAR38508,AAH04821,AAP88823,CAG30321,AAA52306,AAA52307,CAA70696,P00387,Q6TGM4,Q6TGM5,Q6ZVI6,CAK54426,CAK54725 Hs.561064 B5R|DIA1 NADH-cytochrome b5 reductase 3|NADH-cytochrome b5 reductase 3 membrane-bound form|NADH-cytochrome b5 reductase 3 soluble form|OTTHUMP00000198574|OTTHUMP00000198665|diaphorase 1|diaphorase-1 protein-coding 733318 CYB5R4 cytochrome b5 reductase 4 NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 250790) and CYB5 reductase (see MIM 250800).[supplied by OMIM] 2315647,2315644,1580863 20630863,10611283,15131110,16381901,16344560,15504981,15489336,12477932,11230166,11076863,19913121,20628086 2315647,2315644 51167 NM_016230,AL034347,AL139232,EU448291,AF169803,AK313146,AL832113,BC025380,BC029339,DA274558 NP_057314,CAI22325,CAI22326,CAI19904,CAI19905,ACA06109,AAF04812,BAG35964,AAH25380,Q7L1T6,CAL37911,ABM82993,ABM86186 Hs.5741 NCB5OR|RP4-676J13.1|cb5/cb5R|dJ676J13.1 N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein|NADPH cytochrome B5 oxidoreductase|cytochrome b-type NAD(P)H oxidoreductase|cytochrome b5 reductase 4|flavohemoprotein b5+b5R|flavohemoprotein b5/b5R|nadph cytochrome b5 oxidoreductase protein-coding 2302325 CYB5RL cytochrome b5 reductase-like 16344560,12477932 606495 NM_001031672,AL357673,AK090456,BC012781,BC038388,BC049198,BC064419,BC071735,CD515193,DA793739 NP_001026842,CAX13283,BAC03437,Q6IPT4 Hs.591426 NADH-cytochrome b5 reductase-like|OTTHUMP00000207717 protein-coding 734174 CYBA cytochrome b-245, alpha polypeptide Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq] 734861,1580275,1580276,1578443,1331525,1600791,1580863,4773907,4780358,4779762,4762683,2317853,4304108,4311041,2317854,1599510,4266589,4772770,1599683,2317864,4775206,2317860,2317852,2306994,4293707 16922713,16899095,16895900,16794479,16788250,16754784,16738684,16608528,16546843,16543247,16460309,16358232,16330681,16308493,16293794,16215641,16115038,16110781,16076760,16002772,15994299,15936011,15927447,15865106,15838728,11258927,11133215,11023926,10759707,10486263,9083043,8920944,8798532,7964505,3368442,2469497,2286377,1415254,11733522,11530961,20407811,16923427,15824103,11854221,7938008,2243141,16326715,12042318,1763037,3305576,12005167,19574552,19564823,19531958,19516159,19459419,19448608,19423521,19420105,19401454,19388116,19336475,19260521,19251588,19222940,19203534,19198108,19151692,19126404,19102345,19089790,19043982,19012493,18927546,18849343,18801380,18799874,18720901,18716406,18672803,18429753,18422995,18413200,18398337,18390927,18327409,18324526,18309110,18239158,18158642,18077487,18004884,17996248,17880563,17703412,17684477,17684442,17627182,17620958,17617024,17565201,17563559,17445342,17383305,17337886,17336700,17314996,17307262,17227953,17200123,17151330,17149600,17140397,17015440,16998253,15683718,15671602,15561711,15538122,15530459,15489334,15461271,15322091,15322037,15256399,15255799,15219943,15210651,15193812,15186954,15172469,15167446,15135268,15102859,15078863,14968555,14747204,14702039,14679084,14652666,14578247,12927691,12772776,12729892,12716910,12697486,12679469,12639216,12547880,12514663,12482831,12477932,12446192,12230880,12226552,12147803,12121978,12073015,12056906,11940577,11917128,11910303,11893732,20392440,19913121,20454568,20565774,20581851,20598694,20628086,11248021,19292887,19423540,19466604,19567155,19578796,19689263,19853876,19949658,19965945,20031716,20080081,20100625,20215507,20367096,20375611,20378006,20406964,20438785,20503287,20505675,20512451,9121467,20495074,20603655,20167518,18546332,21045268,21048031,21082491,21086617,20304964 734861,1580275,1580276,1578443,1331525,1600791,4773907,4780358,4779762,4762683,2317853,4304108,4311041,2317854,1599510,4266589,4772770,1599683,2317864,4775206,2317860,2317852,2306994,4293707 1535 NM_000101,NG_007291,AC116552,CH471184,M61106,M61107,M62817,M62818,AK097127,AK300049,BC006465,BC011565,BC028224,BC033739,BT006861,BX109994,M21186 NP_000092,EAW66793,EAW66794,EAW66795,EAW66796,AAA52134,BAG61858,AAH06465,AAP35507,AAA90925,P13498,ABM84161,ABM87564 Hs.513803 p22-PHOX cytochrome b light chain|cytochrome b(558) alpha chain|cytochrome b(558) alpha-subunit|cytochrome b, alpha polypeptide|cytochrome b-245 light chain|cytochrome b558 alpha-subunit|cytochrome b558 subunit alpha|flavocytochrome b-558 alpha polypeptide|neutrophil cytochrome b 22 kDa polypeptide|p22 phagocyte B-cytochrome|p22phox|superoxide-generating NADPH oxidase light chain subunit protein-coding 1350964 CYBASC3 cytochrome b, ascorbate dependent 3 16344560,16303743,15342556,14702039,12477932,9373149,8889549,8889548 220002 NM_153611,NM_001161452,NM_001161454,AP003108,CH471076,AA085565,AK024953,AK025870,AK056751,AK075559,AK097043,AK225754,AK297063,AK297084,AK310167,AK310976,AL833374,BC004391,BC014045,BC047710,BM692535,BP296553,BP366144,BP396674,CF125719,CF541093,CR600742,CR607104,CR614872,DA948287,DC378209,DC389589 NP_705839,NP_001154924,NP_001154926,EAW73941,EAW73942,BAG51804,BAC11698,BAG59584,BAG59601,AAH04391,AAH14045,AAH47710,Q8NBI2 Hs.22546 FLJ39724|LCYTB|MGC20446 cytochrome b ascorbate-dependent protein 3|lysosomal cytochrome b protein-coding 1350492 CYBB cytochrome b-245, beta polypeptide Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq] 1599691,1580863,1599682,1599677,1599680,1599681,1599685,1599690,1599683,1599664,4762683 20407811,20495074,20630999,20729109,18402299,18402298,18321306,18278805,18202172,18089853,17940286,17363703,17089090,17060362,17015440,16987004,16895900,16839887,16608528,16516412,16354686,16344560,16260066,16179592,15883163,15777347,15706079,15684431,15681849,15569826,15489334,15479231,15454837,15377283,15322037,15308575,15256399,15249506,15233623,15181570,15102091,14605447,12772776,12768347,12589359,12482831,12477932,12139950,11997083,11926990,11917128,11893732,11511930,11462241,11258927,9774399,3305576,12042318,12716910,7719350,19536508,19410294,19401454,19390057,19337723,19307214,19265148,19118104,19116138,18774749,18682599,18676680,18523147,18473264,18467643,18453612,10974555,10914676,10578014,9888386,9856476,9790760,9667376,9585602,9111587,9083071,9083043,8634708,8182143,8101486,7938008,7927345,7694872,3600769,3600768,2556453,2425263,2243141,1905983,1710153,11248021,17848987,18397177,18783311,19170196,19217269,19625176,19692168,19708127,19717732,19801678,19805647,19839755,19843513,19895673,19965781,19995913,20036216,20056178,20346360,20375611,20043988,19929442,20219570,18546332,20724480,20861446 1599691,1599682,1599677,1599680,1599681,1599685,1599690,1599683,1599664,4762683 1536 NM_000397,NG_009065,AB013904,AC233292,AF469769,AL627245,CH471141,DQ314869,X05895,AK289753,AK301476,AK301491,AK304033,AK312929,BC032720,CR601230,CR622452,DA995835,S67289,X04011 NP_000388,BAA34183,AAL76082,EAW59453,ABC40728,CAA29327,BAF82442,BAG62993,BAG63002,BAG64947,AAH32720,AAB29151,CAA27635,P04839,ABM81804,ABM84958 Hs.292356 CGD|GP91-1|GP91-PHOX|GP91PHOX|NOX2|p91-PHOX CGD91-phox|NADPH oxidase 2|cytochrome b(558) subunit beta|cytochrome b-245 heavy chain|cytochrome b558 subunit beta|heme-binding membrane glycoprotein gp91phox|neutrophil cytochrome b 91 kDa polypeptide|p22 phagocyte B-cytochrome|superoxide-generating NADPH oxidase heavy chain subunit protein-coding 1313951 CYBRD1 cytochrome b reductase 1 This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq] 14499595,18492824,18194661,18092813,17975119,17068337,16344560,15338274,12949720,12477932,11230685,11230166,9373149,8125298,20587610,19023099,19673882 79901 NM_024843,NM_001127383,AC007969,CH471058,DQ496101,AK026654,AK027115,AK128495,AK225459,AK291731,AK301485,AK316588,AL136693,AL834483,BC016900,BC065290,BP418883,CB266594,CB266845,CR601938,CX866825,DA211209,DB000953,DB235339 ADR82645,Q6ZR51,NP_079119,NP_001120855,AAY14730,EAX11210,ABF47090,BAB15661,BAC87466,BAF84420,BAG62999,BAG38176,CAB66628,AAH65290,Q53TN4 Hs.726027 DCYTB|FLJ23462|FRRS3 OTTHUMP00000205024|OTTHUMP00000205026|cytochrome b reductase 1|duodenal cytochrome b|ferric-chelate reductase 3 protein-coding 1315303 CYC1 cytochrome c-1 1300048,1580863 18029348,20562859,2536365,16699948,15544925,15489334,14966123,12788227,12750404,12750393,12477932,12096338,12095993,11790791,11181702,10453733,9373149,8188279,8125298,6262312,3036122,2999105,2844747,2836796,16511342,20628624,20877624 1537 NM_001916,AC104592,CH471162,DQ300360,J04444,AK026633,AK225796,BC001006,BC015616,BC020566,BC024650,BE336714,BT019798,CR541674,CR735564,M16597,X06994 NP_001907,EAW82160,ABB96244,AAA52135,AAH01006,AAH15616,AAH20566,AAH24650,AAV38601,CAG46475,AAA35730,CAA30052,P08574,Q8TBT6,ABM82412,ABM85597 Hs.289271 UQCR4 complex III subunit 4|complex III subunit IV|cytochrome b-c1 complex subunit 4|cytochrome c1, heme protein, mitochondrial|ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit protein-coding 1604618 CYCS cytochrome c, somatic This gene encodes cytochrome c, a component of the electron transport chain in mitochondria. The heme group of cytochrome c accepts electrons from the b-c1 complex and transfers electrons to the cytochrome oxidase complex. Cytochrome c is also involved in initiation of apoptosis. Upon release of cytochrome c to the cytoplasm, the protein binds apoptotic protease activating factor which activates the apoptotic initiator procaspase 9. Many cytochrome c pseudogenes exist, scattered throughout the human genome. [provided by RefSeq] 2313963,2313998,2317615,2317614 8689682,9515723,9267021,8206937,10383829,9390557,9922454,11256614,19404857,19172527,19029908,18825408,18417609,18345000,16934433,16713569,16381901,15489336,15489334,14702039,14063298,13933734,12909341,12853948,12690205,12555167,12477932,12416732,12243190,12147322,12101247,11839755,11790791,11784858,11737208,11230166,11076863,10980706,10818086,10801801,10683230,10625700,10622714,10506125,10082581,19770576,9847074,9760250,9615439,9192670,9027314,8663341,6270113,6262312,6251869,6088481,6087732,4403130,2849112,2844747,2580882,2153405,1309738,199233,17158886,15033690,11462036,11193032,12019321,11739707,16520893,12404116,15698476,15691386,17353931,20227384,10206961,19640329,19851871,19875445,19895853,20237496,20877624 2313963,2313998,2317615,2317614 54205 NM_018947,AC004129,AC007487,CH236948,CH471073,M22877,AK056360,AK311836,AL713681,AI365318,DB447825,NG_023438,BC008475,BC008477,BC009578,BC009579,BC009582,BC009587,BC009602,BC009607,BC014359,BC014361,BC015130,BC016006,BC021994,BC005299,BC022330,BC024216,BC067222,BC068464,BC070156,BC070346,BC071761,BF446772,BG677560,BT006946,BU597562,CR542175,CR615470,CR616500,CR618678,CR621998,CR622353,CR624739,D00265 NP_061820,AAQ96844,EAL24239,EAW93822,EAW93823,EAW93824,AAA35732,BAG34778,CAD28485,AAH05299,AAH08475,AAH08477,AAH09578,AAH09579,AAH09582,AAH09587,AAH09602,AAH09607,AAH14359,AAH14361,AAH15130,AAH16006,AAH22330,AAH67222,AAH68464,AAH70156,AAH70346,AAH71761,AAP35592,CAG46972,BAA00187,P99999,Q6LER6,CAL38091,CAL38301,ABM83964,ABM87278,AAH21994 Hs.437060,Hs.617193 CYC|HCS|THC4 OTTHUMP00000202044|OTTHUMP00000202045|cytochrome c protein-coding 1351407 CYCSL1 cytochrome c, somatic-like 1 (pseudogene) 12909341,2849112 157317 NG_007352,AF533176,AL354740,M22900 CYCSL1|HCP15|HS11|bA513I15.3 pseudo 1349144 CYCSP1 cytochrome c, somatic pseudogene 1 12909341,2849112 122950 NG_002985,AC008050,AF533197,M22886 HC5|HCP36 pseudo 1606901 CYCSP10 cytochrome c, somatic pseudogene 10 12909341 360166 NG_002961,AC022007,AF533171 HCP10 pseudo 1606900 CYCSP11 cytochrome c, somatic pseudogene 11 12909341 360167 NG_002962,AC034193,AF533172 HCP11 pseudo 1606899 CYCSP12 cytochrome c, somatic pseudogene 12 12909341 360168 NG_002963,AC090958,AF533173,AF533174 CYCSP13|HCP12|HCP13 pseudo 1606898 CYCSP13 cytochrome c, somatic pseudogene 13 12909341 360169 NG_002964,AF533174 HCP13 pseudo 1606897 CYCSP14 cytochrome c, somatic pseudogene 14 12909341 360170 NG_002965,AC097481,AF533175 HCP14 pseudo 1606896 CYCSP16 cytochrome c, somatic pseudogene 16 12909341 360171 NG_002966,AF533177,AL079342 HCP16 pseudo 1606895 CYCSP17 cytochrome c, somatic pseudogene 17 12909341 360172 NG_002967,AF533178,AL731777 HCP17 pseudo 1606894 CYCSP18 cytochrome c, somatic pseudogene 18 12909341 360173 NG_002968,AC002540,AF533179,CH236949 HCP18 pseudo 1606893 CYCSP19 cytochrome c, somatic pseudogene 19 12909341 360174 NG_002969,AC074085,AF533180,CH236947 HCP19 pseudo 1351760 CYCSP2 cytochrome c, somatic pseudogene 2 12909341 360183 NG_002986,AC021753,AF533198 HCP37 pseudo 1604945 CYCSP20 cytochrome c, somatic pseudogene 20 12909341 349158 NG_002970,AC011005,AF533181,CH236950 HCP20 pseudo 1606892 CYCSP22 cytochrome c, somatic pseudogene 22 12909341 360175 NG_002972,AC087173,AF533183 HCP22 pseudo 1606891 CYCSP23 cytochrome c, somatic pseudogene 23 12909341 360176 NG_002973,AC099818,AF533184 HCP23 pseudo 1606890 CYCSP24 cytochrome c, somatic pseudogene 24 12909341,2849112 360177 NG_002974,AF533185,AF533192,AL360020,M22880 HC3|HCP24|HCP31 pseudo 1604546 CYCSP25 cytochrome c, somatic pseudogene 25 12909341,2849112 120528 NG_002975,AF533186,AL162614,M22892 HC10|HCP25 pseudo 1606889 CYCSP26 cytochrome c, somatic pseudogene 26 12909341 360178 NG_002976,AF533187,AP003484 HCP26 pseudo 1605537 CYCSP27 cytochrome c, somatic pseudogene 27 12909341 341148 NG_002977,AF533188,AP001372 HCP27 pseudo 1606888 CYCSP28 cytochrome c, somatic pseudogene 28 12909341 360179 NG_002978,AF533189,AP002500 HCP28 pseudo 1606887 CYCSP29 cytochrome c, somatic pseudogene 29 12909341 360180 NG_002979,AF533190,AP003387 HCP29 pseudo 1352181 CYCSP3 cytochrome c, somatic pseudogene 3 12909341,2849112 349198 NG_002971,AF279873,AF533182,M22893 HCP21|HS7 pseudo 1606745 CYCSP30 cytochrome c, somatic pseudogene 30 12909341 121026 NG_002980,AC079598,AF533191 HCP30 pseudo 1606886 CYCSP32 cytochrome c, somatic pseudogene 32 12909341 360181 NG_002981,AF533193,AL590076 HCP32 pseudo 1606675 CYCSP33 cytochrome c, somatic pseudogene 33 12909341 221180 NG_002982,AF533194,AL359763 HCP33 pseudo 1606885 CYCSP34 cytochrome c, somatic pseudogene 34 12909341 360182 NG_002983,AF533195,AL590064 HCP34 pseudo 1604248 CYCSP35 cytochrome c, somatic pseudogene 35 12909341,2849112 121916 M22891,NG_002984,AF533196,AL356423 HC8|HCP35 pseudo 1606884 CYCSP38 cytochrome c, somatic pseudogene 38 12909341,2849112 360184 NG_002987,AC107241,AF533199,M22879 HC2|HCP38 pseudo 1605807 CYCSP39 cytochrome c, somatic pseudogene 39 12909341,2849112 342358 NG_002988,AC130451,AF533200,M22878 HC1|HCP39 pseudo 1606906 CYCSP4 cytochrome c, somatic pseudogene 4 12909341 360157 NG_002955,AF533165,AL589762 HCP4 pseudo 1606883 CYCSP40 cytochrome c, somatic pseudogene 40 12909341,2849112 360185 NG_002989,AC068594,AF533201,M22890 HC7|HCP40 pseudo 1345481 CYCSP41 cytochrome c, somatic pseudogene 41 12909341,10830953 360186 NG_002990,AF533202,AL078471 CYC1LP4|HCP41 cytochrome c-1-like pseudogene 4 pseudo 1348868 CYCSP42 cytochrome c, somatic pseudogene 42 12909341,10830953 343727 NG_002991,AF533203,AJ009632 CYC1LP5|HCP42 cytochrome c-1-like pseudogene 5 pseudo 1606882 CYCSP43 cytochrome c, somatic pseudogene 43 12909341 360187 NG_002992,AF533204,AL139110 HCP43 pseudo 1604468 CYCSP44 cytochrome c, somatic pseudogene 44 12909341,20889312 349391 NG_002993,AF533205,AL139112 HCP44 pseudo 1605528 CYCSP45 cytochrome c, somatic pseudogene 45 12909341 352852 NG_002994,AF533206 HCP45 pseudo 1605542 CYCSP46 cytochrome c, somatic pseudogene 46 12909341,12815422,9847074 286550 NG_002926,AC006989,AF533207,AF533208 HCP46|HCP47 pseudo 1606881 CYCSP48 cytochrome c, somatic pseudogene 48 12909341,12815422 360188 NG_002995,AC013734,AF533209 HCP48 pseudo 1606880 CYCSP49 cytochrome c, somatic pseudogene 49 12909341,12815422 360189 NG_002999,AF533210,AC019099 HCP49 pseudo 1606905 CYCSP5 cytochrome c, somatic pseudogene 5 12909341,12815422 360158 NG_002956,AC099757,AF533166 HCP5 pseudo 1603851 CYCSP51 cytochrome c, somatic pseudogene 51 12909341 343045 NG_002953,AF533162,AL355860 HCP1 pseudo 1603339 CYCSP52 cytochrome c, somatic pseudogene 52 12909341,2849112 360155 R91166,R91214,NR_001560,AF533163,AL157713,M22889 Hs.491808 HC6|HCP2 pseudo 1606907 CYCSP53 cytochrome c, somatic pseudogene 53 12909341 360156 NG_002954,AF533164,AL049762 HCP3 pseudo 2881605 CYCSP54 cytochrome c, somatic pseudogene 54 12815422,9847074 360009 AC019099,NG_002927 pseudo 1606904 CYCSP6 cytochrome c, somatic pseudogene 6 12909341,12477932,18951430 360159 NG_002957,AC064872,AF533167 HCP6|MGC33502 pseudo 1604219 CYCSP7 cytochrome c, somatic pseudogene 7 12909341 164837 NG_002958,AF533168,AC012493 HCP7 pseudo 1606903 CYCSP8 cytochrome c, somatic pseudogene 8 12909341 360160 NG_002959,AC140481,AF533169 HCP8 pseudo 2859621 CYCTP cytochrome c, testis, pseudogene 12909341,20210993 360163 AC011998,AF533170,NG_002960 HCP9 pseudo 1321175 CYFIP1 cytoplasmic FMR1 interacting protein 1 15294869,18805096,20228810,20298200,16260607,19524508,16982806,15489334,15048123,14702039,14676191,14508708,12477932,11438699,9463375,9417078,7584044 23191 NM_014608,NM_001033028,AC011767,AC090764,CH471258,AK024816,AK125784,AK125936,AK127094,AK291604,AL357618,AY763577,AY763578,AY763579,AY763580,BC001306,BC005097,BC063869,BF979687,D38549 Q7L576,ABM87438,ABW03890,NP_055423,NP_001028200,EAW65555,BAG54247,BAG54268,BAC86825,BAF84293,AAW51476,AAW51477,AAW51478,AAW51479,AAH01306,AAH05097,BAA07552 Hs.26704 FLJ45151|P140SRA-1|SHYC|SRA1 cytoplasmic FMR1-interacting protein 1|cytoplasmic FMRP interacting protein 1|selective hybridizing clone|specifically Rac1-associated protein 1|sra-1 protein-coding 1312845 CYFIP2 cytoplasmic FMR1 interacting protein 2 15048733,10449408,11438699,19247692,17245118,16381901,15731336,15489336,15489334,15324660,15048123,14676191,14506234,12477932,12181570,11230166,11076863,10574461,9463375,9373149,8605018,8125298,12837692,15294869,16055720,16862120,17101133,19041431,19910030,19951440,20228810 26999 AL161999,AL559919,BC011762,BC021008,BC026892,BC066933,BG257432,CR596909,CR607036,L47738,NM_001037332,NM_014376,AC008676,AC009185,AC016571,CH471062,AB032994,AF132197,AF160973,AK172724,AK223604,AK294220,AK295865,AK297401,AK303702,AK312157,AL136549,NM_001037333 CAB82329,AAH11762,AAA79022,Q14650,Q96F07,Q9H360,Q9NSN1,CAL38237,CAL38299,ABM84454,ABM87614,NP_001032410,NP_001032409,NP_055191,EAW61603,EAW61604,EAW61605,EAW61606,BAA86482,AAG35543,AAD45723,BAD97324,BAH11703,BAH12208,BAH12569,BAH14023,BAG35091,CAB66484 Hs.519702 PIR121 cytoplasmic FMR1-interacting protein 2|p53 inducible protein|p53-inducible protein 121 protein-coding 1345183 CYGB cytoglobin Cytoglobin is a ubiquitously expressed hexacoordinate hemoglobin that may facilitate diffusion of oxygen through tissues, scavenge nitric oxide or other reactive oxygen species, or serve a protective function during oxidative stress (Trent and Hargrove, 2002 [PubMed 11893755]).[supplied by OMIM] 1580863 20553503,11919282,11320098,19568272,19147491,19001220,18794132,18353768,17936249,16797742,16699195,16698880,16510494,16449996,16201751,15819897,15489334,15299006,15165856,15095869,15052627,14702039,14660570,14530264,12796507,12718557,12477932,12359339,11893755,20511233 114757 NM_134268,AC015802,CH471099,AB057769,AJ315162,AK098057,BC029798,BQ881744,BX647425,CR596351,CR604289,CR615530,CR626663 NP_599030,EAW89405,EAW89406,BAB87840,CAC86186,BAC05223,AAH29798,Q8WWM9 Hs.95120 HGB|STAP cytoglobin|histoglobin|stellate cell activation-associated protein protein-coding 1344193 CYHR1 cysteine/histidine-rich 1 14702039,12477932,10745073,9455484,8889548 50626 NM_001129888,NM_032687,AC084125,CH471162,AB007965,AK094514,AK160381,BC004544,BC005073,BC056412,BC065484,NM_138496,BM671891 NP_612505,NP_001123360,NP_116076,EAW82088,EAW82089,EAW82090,EAW82091,BAG52882,BAD18724,AAH04544,AAH05073,AAH65484,Q6ZMK1 Hs.459379 CHRP|KIAA0496|MGC13010 cysteine and histidine rich 1|cysteine and histidine rich protein|cysteine and histidine-rich protein 1 protein-coding 1348149 CYLC1 cylicin, basic protein of sperm head cytoskeleton 1 1580863 19679225,7737358,8354692,15772651,15489334,12509440,12477932 1538 NM_021118,AL354653,AL627233,BC021669,BC038787,BC058019,BC070355,BC126461,Z22780,HC006894,HC044615 ADR83231,NP_066941,CAI40037,AAH38787,AAH58019,AAH70355,AAI26462,CAA80457,P35663,Q3ZCV3,Q6NS94,Q6PEK4,CBH19252,CBH30637 Hs.444230 CYCL1 cylicin 1|cylicin I|cylicin-1|multiple-band polypeptide I protein-coding 1344761 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq] 1580863 20677014,7737358,18978678,15489334,15164053,12747772,12477932 1539 HC044541,NM_001340,AL359679,AL449304,CH471105,AK313349,BC058038,BC114547,BX097520,Z46788 CBH30600,NP_001331,EAW58966,EAW58967,EAW58968,BAG36151,AAH58038,AAI14548,CAA86752,Q14093,Q6PEJ5 Hs.3232 MGC129591 OTTHUMP00000215903|OTTHUMP00000215904|cylicin II|cylicin-2|multiple-band polypeptide II protein-coding 1319183 CYLD cylindromatosis (turban tumor syndrome) This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1601033 19913121,20628086,17148452,17981138,19462465,19481526,19615732,19800320,17851586,17662085,17609426,17608805,17606441,17495026,17925880,17081983,17875891,16774947,16713561,16627981,16501569,16500080,16350444,16344560,16230348,16135788,15870263,15496400,15489334,15341735,15289313,15226292,15086550,14702039,14676304,14632188,12917691,12917690,12917689,12477932,12168954,11042152,10792569,20832754,20607853,10835629,19076795,18636086,18497946,18363762,18332137,18313383,18245814,18242958,18234730,18222923,10480375,10048485,9373149,8649842,8125298,7493027,20151946,20414373,20593489,19807742,19893491,19911186,19917957,19951577,20227366,20838385,20854080,20347313,20502185,20797623 1601033 1540 FN823255,NM_015247,NM_001042355,NM_001042412,NG_012061,AC007728,CH471092,CQ834224,AF161542,AJ250014,AK000187,AK024212,AK024348,AK056226,AK225202,AK292975,AK310832,AL050166,BC012342,BI458962,BX642061,DA157717,DA785459,DA940312,DB119480 NP_056062,NP_001035814,NP_001035877,EAW82768,EAW82769,EAW82770,EAW82771,EAW82772,EAW82773,CAH05327,AAF29029,CAB93533,BAG51271,BAG51293,BAF85664,AAH12342,Q9NQC7,CBL94217 Hs.578973 CDMT|CYLD1|CYLDI|EAC|FLJ20180|FLJ31664|FLJ78684|HSPC057|KIAA0849|MFT|MFT1|SBS|TEM|USPL2 deubiquitinating enzyme CYLD|probable ubiquitin carboxyl-terminal hydrolase CYLD|ubiquitin carboxyl-terminal hydrolase CYLD|ubiquitin specific peptidase like 2|ubiquitin thioesterase CYLD|ubiquitin thiolesterase CYLD|ubiquitin-specific-processing protease CYLD protein-coding 1347835 CYMD cystoid macular dystrophy 8004098 1541 1344324 CYMP chymosin pseudogene 16344560,2210384,2071156,1812698 643160 NR_003599,AL358215,AK310315 Hs.532720 pseudo 735631 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq] 1580863,1599699,1599701,1599693,1599696,1599698,4785271,4832477,4833436,4889107,4889134,2325883,4145630 20634197,11502818,18182448,19336370,19300392,19240061,19197249,19116240,18992638,18725155,18665078,18505908,18499961,18490834,18483327,18437511,18368131,18307388,18191841,18004979,17615053,17594537,17575134,17507624,17178901,17110639,17065579,16798289,16764871,16409859,16391898,16344560,16195240,16172228,16116976,16103457,15927889,15793791,15613430,15471945,15489334,15231748,15159300,15128046,15126571,15054879,14702039,14644808,12530676,12530663,12517592,12477932,12385014,12242026,12161514,12145340,12137805,12101186,11997174,11864972,11701663,11535251,11238527,11137199,11062177,11008920,10856721,10644752,10416690,10411633,10391209,9685215,9498238,9373149,9147642,9029710,8372604,8125298,3038854,3024157,2419119,1917982,1863359,1849407,1429635,15323426,15583024,19064571,19342447,19453261,19543524,19574343,19598235,19846611,20199803,20200332,20214802,20381444,20450755,20734064,20877624 1599699,1599701,1599693,1599696,1599698,4785271,4832477,4833436,4889107,4889134,2325883,4145630 1583 NM_000781,NM_001099773,NG_007973,AC090826,CH471136,DQ358147,X05367,X14257,AI149078,AK056794,AK225715,AK292300,AK292301,AK293204,AK293211,AK300178,AK310362,BC032329,BX398579,CR591351,CR594184,CR596946,CR602305,CR602621,CR608581,CR612104,CR614174,CR616636,CR625769,CR626277,DA010417,M14565,M28253 NP_000772,NP_001093243,EAW99341,EAW99342,ABC86898,CAA28965,CAA32471,BAG51810,BAF84989,BAF84990,BAG56744,BAG56751,BAG61957,AAH32329,AAA52162,AAA36404,P05108,Q2HZF3,ABM82504,ABM85697 Hs.303980 CYP11A|P450SCC CYPXIA1|OTTHUMP00000198335|cholesterol 20-22 desmolase|cholesterol desmolase|cholesterol monooxygenase (side-chain cleaving)|cholesterol monooxygenase (side-chain-cleaving)|cholesterol side-chain cleavage enzyme, mitochondrial|cytochrome P450 11A1|cytochrome P450(scc)|cytochrome P450, subfamily XIA (cholesterol side chain cleavage)|cytochrome P450C11A1|cytochrome p450, subfamily 11a|steroid 20-22-lyase protein-coding 70835 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 1300048,1580863,1600799,69709,734864,4145630,4891156,4889549,4891147,4891170 19913121,20529578,20628086,20708777,17556864,17296872,17121536,17075029,16984984,16396990,16110193,16030166,15793791,15755848,15751602,15699546,15522937,15507509,15324322,15128046,15062555,14702039,14682466,12477932,11932209,11903322,11675945,11549691,11549669,11095433,10599751,10411633,10391210,10391209,9302260,8372604,7903314,3499608,2592361,2401360,1741400,1518866,1430088,1303253,20808686,20877624,2256920,8506298,2022736,16114325,12452430,15026188,19336370,19082699,18974272,18663314,18661760,18636124,18397978,18294861,18215163,17980006,15583024,19453261,19567537,19598235,19820005,19844114,20089618,20214802,20339375,20486282,20523022 1600799,69709,734864,4145630,4891156,4889549,4891147,4891170 1584 NM_001026213,NM_000497,NG_007954,AC083841,AJ431380,AJ431381,AJ431382,CH471162,D10169,D16153,D16155,EU332839,M32863,M32879,AF478474,AK094090,BC096285,BC096286,BC096287,BX647738,M24667,X55764 NP_001021384,NP_000488,CAD24088,CAD24089,CAD24090,EAW82293,EAW82294,EAW82295,BAA01039,BAB71992,BAA03717,ABY87528,AAA52149,AAL84813,BAC04283,AAH96285,AAH96286,AAH96287,AAA52148,CAA39290,P15538,Q4VAQ9,Q4VAR0,Q8N9P8,Q8TDD0,Q8TE38,Q8TE39,Q8TE40 Hs.184927 CPN1|CYP11B|DKFZp686B05283|FHI|FLJ36771|P450C11 CYPXIB1|cytochrome P-450c11|cytochrome P450 11B1, mitochondrial|cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1|cytochrome P450C11|cytochrome p450 XIB1|steroid 11-beta-hydroxylase|steroid 11-beta-monooxygenase protein-coding 736494 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq] 1576426,1576427,1576428,1576429,2307288,2307309,2307295,2307306,2307308,2307297,2307307,2307289,2307294,2307303,2307304,727991,1300048,1580863,1600824,4891151,4891156,4891162,4891377,4891170,4891147,4891150,4891416,4889549 19913121,20560800,20598712,20628086,20659024,20662731,20708777,17334644,17334527,17318792,17296872,17273158,17261471,17190732,17143166,17075029,17003099,16984984,16979018,16893516,16796847,16780672,16767667,16765146,16759311,16714246,16672053,16638864,16615274,16580565,16485730,16468060,16396990,16303227,16208140,16207322,16126185,16110193,16080805,16080804,16078594,15914614,15894891,15894890,15882548,15824464,15699546,15662219,15643128,15614025,15611122,15600184,15583997,15573760,15569322,15545843,15532370,15522937,15507509,15505931,15479186,15378162,15361760,15272911,15238568,15230231,15223724,15135254,15128046,15102677,15097233,15062555,15055249,14736447,14704730,14643573,14530292,14508191,12832734,12817181,12788848,12788845,12783697,12746403,12627873,12624609,12611423,12544508,12544440,12477932,12446468,12446192,12444540,12391843,12376254,12213905,12205735,12195120,12193581,12172317,12161536,12137808,12133420,12107246,12065207,12031704,12022239,11967817,11932209,11923700,11910301,11903322,11856349,11841224,11728946,11728005,11725161,11711524,11711521,11696688,11696658,11587161,11518842,11447495,11422735,11422106,11325068,11288810,11245725,11238478,11116113,11076863,10902803,10411633,10391210,10391209,10371693,9931115,9814506,9625333,9506770,9360501,9177280,8954040,8439335,8372604,2256920,1741400,9703385,9838244,14614232,19407459,19343046,19332265,19262476,19254215,19253715,19243623,19166692,19151144,19117407,19116236,19112833,19093739,19026620,18974272,18856058,18855530,18773126,18771471,18660489,18638595,18636124,18446309,18413308,18397978,18260994,18260840,18202594,18192839,17987391,17984617,17980006,17851694,17762647,17698557,17664852,17633457,17631084,17546276,17531119,17519002,17407071,17383306,20494601,20123934,20808686,7792802,3872685,2592361,1775135,1594605,1518866,1346492,1303253,15583024,18710464,19158234,19418629,19609286,19729965,19776632,19779464,19786005,19820005,19853701,19948975,19956635,20094057,20097716,20176774,20182453,20193236,20193392,20214802,20224556,20300066,20339375,20381197,20416077,20486282,20535141,20537417,20413672,20831027,20877624,20878543,20966514 1576426,1576427,1576428,1576429,2307288,2307309,2307295,2307306,2307308,2307297,2307307,2307289,2307294,2307303,2307304,727991,1600824,4891151,4891156,4891162,4891377,4891170,4891147,4891150,4891416,4889549 1585 NM_000498,NG_008374,AC073385,CH471162,D10170,D13752,EU326306,M32881,S77397,S77409,X54741 NP_000489,EAW82292,BAA01040,BAA02899,ACA05912,AAA35741,AAB34642,AAB34643,CAA38539,P19099,Q14098,Q16315,Q16316,AAI11459 Hs.632054 ALDOS|CPN2|CYP11B|CYP11BL|P-450C18|P450C18|P450aldo CYPXIB2|aldosterone synthase|aldosterone-synthesizing enzyme|cytochrome P-450Aldo|cytochrome P-450C18|cytochrome P450 11B2, mitochondrial|cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2|cytochrome p450, subfamily 11b, polypeptide 2|mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2|steroid 11-beta-monooxygenase|steroid 11-beta/18-hydroxylase|steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo protein-coding 1350540 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq] 1580863,1625350,2317618,2317619,4888511,4889112,4889142,4889141,2325883,4846627 20534731,20628086,20628746,19913121,20634197,20650774,20677014,20728566,20729792,20798986,15583024,16385451,19170196,19454579,19625176,19636199,19672705,19692168,19789190,19805543,19850690,19863350,19915575,19954068,19956635,20013047,20033766,20043206,20043997,20069306,20072949,20086173,20099974,20113968,20133979,20171624,20173016,20184498,20193327,20197673,20200332,20214802,20379614,20381444,20414254,20432167,20453000,20479155,20503394,14702039,14693733,14684846,14671162,14665706,14644808,14634838,14575568,14561815,14552333,14552332,14512432,14504283,12971967,12954495,12949806,12719950,12718576,12692107,12652520,12645864,12644832,12631398,12631293,12602902,2808364,10406467,1347802,9326943,19642097,19627379,19598235,19574343,19505920,19469636,19453261,19443382,19430483,19430479,19415745,19387820,19379515,19336370,19330259,19267349,19174490,19127255,19064581,19064572,19023099,19015200,19013303,18980759,18957719,18930188,18820009,18781485,18767927,18725155,18722876,18707589,18682255,18676680,18645709,18636181,18636124,18629629,18619494,18618215,18601603,18593984,18560445,18510611,18505908,18503826,18501301,18499961,18496127,18495332,18491956,18483327,18437511,18422032,18415690,18411914,18318428,18305346,18299473,18281250,18262808,18187541,18184656,18172694,18163429,18006912,18000308,17986287,17975119,17961073,17895316,17875358,17826473,17786540,17785571,17765230,17760252,17704407,17669147,17664281,17615053,17606708,17589376,17588204,17507624,17484509,17386955,17359589,17328668,17307805,17235448,17218734,17167982,17119038,17110639,17108148,17077994,16977255,16971197,16969494,16909599,16896040,16890174,16887917,16885156,16875543,16859836,16850246,16783967,16782804,16739881,16730930,16720291,16716118,16707883,16702327,16638864,16616104,16608396,16604478,16603433,16595705,16595228,16527884,16519145,16515644,16424004,16411751,16381022,16354159,16344560,16319265,16306078,16280037,16260521,16244490,16232327,16214922,16202920,16045239,15999490,15987458,15987450,15953542,15941966,15927351,15916684,15886251,15878919,15865082,15824149,15823822,15799583,15774541,15761247,15749482,15711606,15706422,15687493,15686129,15663233,15654505,15609124,15604994,15598676,15591802,15555906,15539439,15538743,15536258,15489334,15482786,15477877,15466495,15382051,15372520,15364798,15341023,15241822,15235815,15199113,15195127,15164054,15129369,15128046,15072828,14995917,14985252,14744739,14715870,14714492,12584742,12582021,12574216,12530676,12530662,12530647,12530262,12517592,12506119,12477932,12466376,12464252,12446594,12444089,12385014,12370109,12368392,12164325,12036914,12036913,11956159,11925378,11911969,11897684,11895872,11888844,11880540,11867265,11847524,11839369,11836339,11834432,11749050,11668516,11571725,11549685,11535545,11470993,11440959,11379008,11358812,11341336,11303586,11248649,11232039,11221867,11212283,11145739,11142420,11094312,11059764,11036113,10720067,9888582,9601054,9435441,9360545,9177409,8855840,8675607,8550762,8396144,8345056,8245018,8027220,7629254,6976525,3500022,3488328,3274893,3025870,2843762,2786493,2466376,2335573,1964490,1740503,1714904,1665206,1621662,1577471,1515452,1478654,20207836,19508587,20595043,20886547,20716560,20729390,20734064,20852445,20884100,21045733 1625350,2317618,2317619,4888511,4889112,4889142,4889141,2325883,4846627 1586 NM_000102,NG_007955,AL358790,CH471066,DQ530598,EU332845,M19489,M31153,M63871,AI492406,AK094106,AK289898,AK308466,AK312235,BC032843,BC062997,BC063388,BT020000,DA013587,DA016804,M14564 NP_000093,CAI52498,EAW49672,ABF50972,ABY87534,AAA36405,AAA52140,AAA59984,BAF82587,BAG35168,AAH62997,AAH63388,AAV38803,AAA52151,P05093,Q1HB44 Hs.438016 CPT7|CYP17|P450C17|S17AH CYPXVII|cytochrome P450 17A1|cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia|cytochrome P450-C17|cytochrome P450c17|cytochrome p450 XVIIA1|steroid 17-alpha-hydroxylase/17,20 lyase|steroid 17-alpha-monooxygenase protein-coding 1346128 CYP17A1OS cytochrome P450, family 17, subfamily A, polypeptide 1 opposite strand 414269 AL358790 CAI52497,Q5F2G5 bA753C18.3 cytochrome P450, family 17, subfamily A, polypeptide 1 opposite strand protein-coding 1606587 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis, three successive hydroxylations of the A ring of androgens. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. The gene expresses two transcript variants. [provided by RefSeq] 2301045,2301046,1625350,4889108,2325883,4890368,1600860,4890041,4761326,4890381,4890359,4889549 19913121,20586553,20588246,20588308,20628086,20628746,20634197,20688833,20797716,20819792,20351196,15840311,18930188,18941892,19083124,19170196,19389254,19438456,19493871,19556341,19558171,19573564,19589174,19625176,19692168,19776291,19782135,19789370,19800002,19800101,19805543,19808095,19815003,19818337,19879925,19883757,19896534,19906814,19921206,19933466,19952760,19956635,19969081,20004389,20015405,20026603,20030115,20048079,20052540,20053928,20072949,20133979,20144226,20148360,20164038,20164294,20173016,20184498,20189936,20193327,20200332,20214802,20231365,20305046,20346360,20381444,20385561,20417295,20432167,20453000,20505544,7690033,3964273,3653507,3390233,3018730,2973313,2808431,2691883,2541021,2171939,2040633,1825497,1724289,1371509,15319333,15688015,2848247,15583024,11256614,19639193,19630952,19604497,19598235,19591804,19574343,19555469,19551860,19549443,19527514,19514368,19505920,19500729,19491387,19478482,19470632,19469636,19453261,19445691,19419293,19415745,19366906,19340622,19324338,19299445,19282383,19240151,19194457,19185610,19174490,19172223,19159688,19158807,19152063,19137777,19129847,19124506,19124504,19116238,19107851,19093296,19064581,19064572,19064562,19022561,19019335,19015200,18980759,18962445,18941913,18822378,18820009,18818748,18817841,12517592,12489562,12477932,12466340,12462077,12462076,12451990,12428207,12385014,12370109,12351690,12213901,12204674,12164325,12161505,12161013,12160997,12154211,12053085,12036913,11997208,11935306,11927588,11925378,11904449,11903314,11897504,11850235,11850233,11850230,11850225,11850224,11850222,11850221,11850220,11850219,11850210,11850209,11850208,11850206,11850205,11850203,11826265,11756225,11595700,11571725,11469726,11344237,11232039,11216915,11181459,11140838,11076863,10837748,10566648,9696881,9211678,9177373,8530621,8477708,8265607,8117272,8090165,16793950,16782804,16767510,16741831,16739881,16733710,16730930,16723309,16691199,16684355,16648498,16641167,16634644,16621515,16608396,16604491,16595205,16566930,16556483,16541304,16498364,16498363,16498361,16498360,16473000,16467490,16426763,16424004,16418790,16406421,16402077,16395678,16392624,16381901,16344016,16322405,16306085,16303757,16302261,16287071,16269961,16260521,16251760,16251630,16244490,16232327,16213843,16202920,16199862,16146740,16128984,16103457,16086586,16045239,16039845,16024248,16020944,16019206,15955695,15862962,15862961,15862960,15802318,18767927,18676680,18667686,18636124,18629629,18622258,18617186,18614591,18614276,18601603,18595017,18593984,18568448,18559914,18512790,18510611,18505907,18501301,18497059,18491956,18483761,18483177,18467089,18445666,18437511,18426832,18305346,18299793,18281655,18274619,18245543,18201819,18199708,18182446,18181018,18163429,18159088,18157729,18086758,18083712,18049890,18048499,18030614,17989068,17989043,17979523,17975727,17962916,17953943,17893373,17827443,17766065,17704407,17687621,17682677,17681675,17678915,17662285,17661084,17657731,17646720,17615053,17595315,17589376,17588204,17584767,17574328,17562079,17517397,17507624,17507620,17482958,17415442,17405842,17404019,17400043,17391072,17372263,17359589,17336977,17331471,17325027,17219197,17216495,17187946,17176215,17167982,17158756,17119036,17118999,17066438,17065579,17004113,16997132,16977255,16964243,16949391,16949385,16930994,16896040,16895991,16894362,16882736,16875543,16850246,16798289,15800924,15794932,15788666,15774541,15748828,15695318,15677755,15668497,15640252,15613678,15582747,15489336,15449726,15364411,15358790,15330195,15298966,15241822,15229337,15207764,15199113,15183689,15181061,15177662,15132727,15128046,15126575,15083381,15083380,15083377,15083376,15079018,15074077,15072828,15072827,15046111,14990865,14981949,14973387,14747179,14744739,14715870,14714492,14634838,14631363,14602139,14593077,14580722,14517714,14508827,12944421,12917334,12914527,12864794,12846271,12843146,12839940,12788892,12768436,12759877,12736278,12734209,12720534,12705475,12690088,12639945,12620480,12618873,12606587,12602902,12592380,20546829,20655525,20064870,18847535,18955734,19906189,20060879,20668023,20430378,20186154,20211687,20140262,20300828,20716560,20729390,20734064,20881004,20932310,20937744,20960227 2301045,2301046,1625350,4889108,2325883,4890368,1600860,4890041,4761326,4890381,4889549 1588 NM_031226,NM_000103,NG_007982,AC012169,AC020891,AY957953,CH471082,D14473,M30804,S85356,AK291778,BC020767,BC022896,BC035714,BC035959,BC056258,BC107785,BQ024157,CR591944,CR594831,CR610414,CR615188,CR617751,CR620604,CR622060,CR622116,DQ118405,J04127,M18856,M22246,M28420,X13589,Y07508,CR619515 NP_112503,NP_000094,AAX44046,EAW77413,EAW77414,EAW77415,EAW77416,AAA35728,AAB21520,BAF84467,AAH20767,AAH22896,AAH35714,AAH35959,AAH56258,AAI07786,AAZ23558,AAA52132,AAA35556,AAA35557,AAA52141,CAA31929,CAA68807,P11511,Q05CU4,Q16449,Q45RG7,Q7Z471,Q8IYG4,Q8IYJ7,Q8TCA4,CAL38062,CAL37411 Hs.260074 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM CYPXIX|OTTHUMP00000162543|OTTHUMP00000198350|aromatase|cytochrome P-450AROM|cytochrome P450 19A1|cytochrome P450, subfamily XIX (aromatization of androgens)|estrogen synthase|estrogen synthetase|flavoprotein-linked monooxygenase|microsomal monooxygenase 2289561 BW440_H protein-coding 730870 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. [provided by RefSeq] 1581251,1581252,2301040,2301045,2306675,2307073,2307074,2307076,727674,1300048,1580863,2317212,2317211,2317210,4892071,4293707,4892073,4889126,4892074,4142512,4892075,4892072,4145530,4892045 1691986,15546903,19219744,19650794,19643819,19639480,19632247,19630952,18779756,18774560,18768509,18767181,18763031,18706519,18700132,18698632,18691756,18676680,18642288,18636124,18632753,18628428,18618215,18601742,18593984,18590468,18589596,18577398,18569591,18550589,18510611,18507060,18507050,18497059,18496222,18495522,18493746,18463401,18449058,18447907,18437510,18415801,18415690,18414197,18409147,18409146,18389617,18351133,18339256,18320229,18318428,18317771,18304461,18287869,18287863,18285692,18268125,18261353,18247309,18241825,18224491,18203634,18203021,18200441,18180754,18159984,18090121,18082227,18078203,18074679,18070799,18065768,18061941,17996038,17982751,17981384,17980933,17980001,17959138,17919675,17919073,17908297,17900751,17896209,17873299,17852022,17823232,17786624,17728147,17717632,17711714,17706398,17695473,17651397,17646057,19627379,19608585,19598235,19582785,19576320,19575027,19574343,19563927,19561157,19538838,19537956,19527514,19521675,19507064,19507017,19505920,19479063,19472123,19469619,19453261,19443378,19427967,19424794,19424633,19415745,19414505,19412423,19387820,19356113,19351467,19346634,19343046,19339270,19338043,19336370,19317600,19307236,19303595,19290787,19287966,19285097,19276377,19267064,19252926,19246429,19229255,19222528,19178087,19174490,19160101,19147266,19143007,19138996,19127255,19126602,19110417,19074885,19070657,19064581,19031960,19024313,19022366,19019335,19013013,19012698,19009239,18992263,18990750,18990008,18980759,18979064,18941913,18936436,18849443,18824009,18819424,18818748,18800292,18798002,18784359,16823842,16807674,16803538,16792888,16788090,16771603,16767678,16763966,16721740,16697254,16676594,16638864,16625286,16620591,16614120,16614107,16609368,16608396,16599372,16598069,16580705,16527884,16505155,16493615,16492926,16488179,16484137,16481407,16471212,16466991,16426572,16424825,16416283,16414014,16407087,16403567,16402549,16402077,16393248,16360200,16357600,16357593,16337337,16319265,16318816,16284498,16284375,16273625,16270381,16260521,16254684,17167268,17164366,17160896,17160265,17158763,17119063,17118447,17113562,17083362,17081983,17078101,17063266,17053541,17035385,17022435,16998606,16985250,16985033,16985026,16977255,16971197,16956909,16949388,16947004,16926176,16914185,16882880,16864595,16837240,16835796,16834659,15849806,15801491,15774926,15774541,15769360,15765281,15764294,15756908,15734958,15734083,15731166,15725614,15712341,15671210,15653213,15648054,15647817,15646021,15643613,15642161,15640066,15618738,15605089,15596250,15591802,15583370,15579657,15552037,15547760,15528152,15526353,15521013,15496536,15491310,15489334,15478298,15469410,15459023,15386428,15382273,15382051,15381379,15376230,15375499,15363546,15355699,15352038,15341023,15333597,15333250,15327835,15299091,15298960,15298956,15279831,15241822,15217514,15215328,15206494,15195126,15194533,15185560,15184245,15180167,15177667,15176217,15152552,15136237,15128046,15127559,15127181,15124938,15111988,15093273,15088300,15069692,15064998,15061915,15059326,15052670,15037607,15013696,17642299,17640999,17630984,17623765,17620151,17611777,17610937,17603290,17590289,17589376,17588204,17577786,17566695,17549424,17548691,17531965,17526865,17512776,17512722,17507624,17498780,17496311,17479406,17477782,17461521,17449539,17429315,17429172,17428572,17427032,17412371,17408703,17403528,17372252,17372243,17372239,17367411,17363580,17361553,17316563,17311112,17307803,17307802,17220347,17192049,17191090,17174438,17171211,14991750,14758730,14734460,14724908,14719475,14695173,14693745,14687717,14675315,14665706,14656945,14646291,14639127,14634838,14611903,14602525,14602139,14582397,14560034,14534704,14510941,12949934,12934333,12925969,12919721,12903034,12883749,12880680,12879168,12854128,12846365,12845676,12827651,12824892,12777964,12772461,12771031,12767526,12767509,12760253,12748560,12746631,12738724,12732844,12729704,12718576,12713578,12690010,12680328,12670526,12646505,12631667,12620480,12602902,12594823,12590982,12579334,12574216,12569554,12548461,12527337,12496044,12490585,16235998,16228113,16227674,16202920,16153604,16142442,16130011,16103451,16099114,16084889,16051642,16043197,16037119,16012082,16009381,15991278,15986113,15981231,15953982,15952134,15941966,15938845,15931768,15928955,15920291,15914277,15914211,15870154,15867368,15861041,15856430,12484238,12477932,12468438,12464257,12435115,12419832,12397416,12378791,12365037,12354067,12351530,12297440,12269988,12237110,12210751,12210502,12189551,12183419,12175533,12171760,12170467,12163326,12147246,12144816,12139735,12110344,12100112,12071517,12063626,12036913,12034316,12030651,12018173,11996959,11967624,11955671,11952781,11934439,11895912,11872636,11860900,11860825,11859435,11854392,11833070,11798822,11793160,11792676,11779261,11752233,11751440,11719088,11698341,11689007,11675474,11675150,11641039,11564581,11551408,11535253,11525595,11520401,11511301,11507974,11503278,11501853,11500195,11488937,11487538,11485833,11484167,11471167,11470996,11470992,11470760,11459424,11436564,11434510,11422615,11418090,11410321,11408954,11408349,11406608,11406420,11396202,11393538,11389067,11330960,11325850,11295847,11295132,11291049,11279306,11275366,11259393,11246217,11236859,11207026,11191882,11172643,11162685,11159735,11124296,11052546,11045797,11037803,11037802,10739168,10612842,10493257,9890157,9500998,9373149,8895751,8548778,8442765,8313840,8125298,6102994,4000952,3838385,3714481,3019683,3000715,2989797,1761516,1722803,8095225,15319333,15039299,19913121,20529763,20554493,20559649,20579990,20584197,20602615,20628086,20634197,20634891,20638923,20644561,20661821,20664892,20804547,20817259,16367916,19170196,19264525,19430483,19452301,19456854,19526463,19625176,19666078,19679043,19682433,19692168,19718946,19750329,19751749,19776291,19786002,19789190,19789301,19799358,19822571,19826048,19827888,19860743,19863350,19892789,19899130,19903800,19947517,19948975,19954068,19954069,19963114,19963139,19995559,20009880,20012094,20027111,20029944,20032816,20035380,20047124,20052535,20054510,20080081,20088379,20088394,20094781,20095411,20131310,20136364,20177288,20193595,20214802,20226777,20297661,20345875,20373852,20375710,20377136,20381444,20428802,20437850,20453000,20491576,20511665,20534018,20534171,20544687,20462615,20700368,20886582,20701904,20704749,20723587,20734064,20734807,20845989,20846153,20850372,20855412,20878561,20878621,20884258,20887941,20937634,20957336,20965504,20970553,21081473,21086258,20596254,20962519 1581251,1581252,2301040,2301045,2306675,2307073,2307074,2307076,727674,2317212,2317211,2317210,4892071,4293707,4892073,4889126,4892074,4142512,4892075,4892072,4145530,4892045 1543 NM_000499,NG_008431,AC091230,AF253322,CH471136,D10855,EF094025,X02612,X04300,AF040259,AK223108,AK223113,AK310810,AK313880,AM233517,AM233518,AM233519,AM233520,AM236046,AM236047,AY310359,AY871801,BC023019,K03191,M12079 NP_000490,AAK25727,EAW99314,EAW99315,ABK41999,CAA26458,CAA27843,AAD10199,BAD96828,BAD96833,BAG36606,CAJ80720,CAJ80721,CAJ80722,CAJ80723,CAJ84703,CAJ84704,AAQ76692,AAX62803,AAH23019,AAA52139,AAA52152,P04798,Q0VHD5,Q53G23,Q5J9B1,ABM82441,ABM85632 Hs.72912 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX CYPIA1|OTTHUMP00000183469|aryl hydrocarbon hydroxylase|cytochrome P1-450, dioxin-inducible|cytochrome P450 1A1|cytochrome P450 form 6|cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1|cytochrome P450-C|cytochrome P450-P1|flavoprotein-linked monooxygenase|xenobiotic monooxygenase protein-coding 735711 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq] 2301045,2303375,2303376,1358545,727649,1300048,1580863,4293707 16324277,19961320,11511187,15327587,15680923,16401082,17311915,18356043,19029318,19219744,19450128,19451835,19452301,19534587,19569730,19571439,19636338,19651758,19666078,19682433,19692168,19751749,19776291,19789190,19806921,19822571,19823875,19843669,19860743,19926050,19956635,20029944,20047124,20054636,20080081,20118554,20131310,20136364,20147896,20163457,20173083,20175915,20213484,20214802,20218903,20304699,20375710,20381444,20389299,20390257,20403997,20437850,20453000,20505544,2813353,8553685,19643819,19605743,19593168,19593158,19583676,19576320,19575027,19574343,19507017,19479063,19453261,19430483,19424794,19415745,19414633,19356113,19343046,19339270,19338043,19336370,19332078,19307236,19290787,19285097,19276377,19274061,19273964,19229255,19106084,19095219,19026171,19000940,18996102,18992148,18990750,18941913,18936436,18850169,18840375,18825963,18813311,18801337,18798002,18784359,18759349,18751408,18703023,18690546,18632753,18628519,18619574,18569587,18551037,18544563,18510611,18499698,18497059,18496682,18493746,18490497,18466106,18455494,18398030,18389617,18318428,18268115,18231117,18223460,18200441,18187423,18180754,18159984,18077912,18075470,18052847,17900275,17852022,17823234,17823232,17695473,17688403,17635176,17627011,17616786,17615053,17611010,17603900,17603224,17564586,17509724,17507624,17507615,17503978,17498780,17477782,17429315,17418993,17372239,17370067,17363580,17345072,17295924,17259654,17191090,17178267,17164366,17065585,16985250,16985026,16969362,16933202,16882880,16864595,16800822,16782969,16775389,16772608,16740387,16636061,16609368,16538176,16538170,16522833,16505155,16495781,16471212,16426572,16406813,16402549,16402077,16385402,16307269,16204462,16188490,16172230,16157215,16153396,16130011,16103451,16048566,16006997,15996939,15987714,15949157,15941966,15901993,15890241,15849225,15774926,15770072,15763632,15734958,15643613,15564895,15519301,15505641,15489334,15469410,15466009,15387446,15382051,15363478,15349722,15299091,15241822,15128046,15110095,14976127,14723376,14714565,14695651,14648207,14640293,14563787,12943470,12925300,12920202,12900870,12851801,12790158,12732846,12692107,12663508,12630986,12618594,12569554,12566081,12534642,12484238,12477932,12445029,12419832,12181774,12147246,12067576,11943609,11817502,11791895,11782366,11763009,11749050,11507974,11501059,11496364,11470995,11393588,11275366,11207026,11186132,11153915,10791558,10493258,10463577,9890157,9884316,9797707,9598815,8694864,8573198,8287062,3755823,3681487,3517618,3462722,3000715,2575218,9398194,8095225,15319333,15039299,12445035,20529763,20559687,20602612,19913121,20602615,20628086,20634197,20634891,20641098,20652353,20797314,20043572,20853468,20691427,20701904,20734064,20930417,20957336,20970553,21071160,21072184,21081473,21086794,20806393,20663043 2301045,2303375,2303376,1358545,727649,4293707 1544 NM_000761,NG_008431,AC091230,AF253322,CH471136,DQ022432,L00389,M31664,M31667,AF182274,BC067424,BC067425,BC067426,BC067427,BC067428,BC067429,M12078,M55053,Z00036 NP_000752,AAK25728,EAW99313,AAY26399,AAA35738,AAA52163,AAF13599,AAH67424,AAH67425,AAH67426,AAH67427,AAH67428,AAH67429,AAA52154,AAA52146,CAA77335,P05177,Q6NWU3 Hs.1361 CP12|P3-450|P450(PA) CYPIA2|P450 form 4|aryl hydrocarbon hydroxylase|cytochrome P(3)450|cytochrome P450 1A2|cytochrome P450 4|cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2|cytochrome P450-P3|cytochrome p450, 1a2|dioxin-inducible P3-450|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 736765 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq] 1599716,728267,1300048,1580863 20683028,11555828,19083124,19170196,19597567,19622003,19625176,19666078,19668563,19668597,19690133,19692168,19730035,19736056,19744731,19751749,19754948,19776291,19789190,19789301,19793111,19820397,19822571,19857456,19860743,19895167,19898482,19956635,19963139,19995559,20027111,20029944,20033481,20037207,20054638,20057908,20088394,20131310,20151268,20198857,20198978,20212917,20214802,20357201,20375710,20391138,20395011,20403997,20453000,20461808,20492382,20505544,20184498,14507861,12873984,12844487,12837283,12807732,12770747,12718576,12692107,12618873,12602902,12598442,12567107,12525557,12520071,12477932,12419832,12415427,12385014,12372064,12200121,12183407,12010864,11955671,11854439,11774072,11749050,11558822,11452143,11403040,11389067,11303589,11221602,10614688,10227395,9890157,9823305,9497261,9463332,8910454,8175734,20664688,20462226,20734064,20830506,20845989,20878130,20884258,21072184,21081473,20051892,9097971,17353931,19643970,19630952,19598235,19582785,19575027,19574343,19536304,19528825,19514368,19505920,19479063,19453261,19443378,19424794,19424633,19415745,19414505,18227148,18187806,18070520,18067928,18059014,18055790,17980933,17925548,17922187,17919675,17914928,17893647,17718864,17704407,17687619,17642299,17627011,17615053,17603900,17591938,17589376,17588204,17575219,17563717,17562158,17548691,17507624,17507616,17498780,17496311,17458695,17449559,17449539,17429315,17403528,17372243,17372239,17363580,17321191,17311112,17301257,17224914,17224759,17220347,17200336,17187946,19383894,19357154,19349377,19343046,19338043,19331196,19324859,19293312,19290787,19287966,19274671,19247456,19234632,19229255,19214745,19208203,19199255,19195637,19179758,19174490,19138996,19138946,19127255,19126602,19116217,19096718,19094228,19074885,19064581,19031960,19015200,18992148,18990750,18989382,18980759,18977467,18936436,18922394,18852424,18841557,18829176,18820009,18794456,18784359,18779756,18763031,18676680,18632753,18628428,18622259,18616618,18575334,18573508,18569591,18569579,18544568,18537981,18510611,18497059,18486761,18483560,18470941,18425393,18415014,18414103,18385784,18347981,18318428,18268125,18258609,17164573,17157584,17077994,17063266,17053044,17035385,16985250,16985026,16978616,16977255,16963504,16949388,16896040,16864595,16862072,16850246,16847423,16808847,16766147,16735994,16735991,16730930,16716118,16688110,16638984,16598069,16569655,16490498,16384942,16344560,16319821,16319265,16284375,16260521,16207128,16202920,16172230,16172228,16115918,16103451,16051642,16006997,15987428,15958554,15941966,15905203,15896461,15861043,15808404,15777990,15774541,15734958,15734954,15733270,15723004,15654505,15636228,15596250,15489334,15475877,15386537,15382051,15342693,15342556,15342454,15333708,15299091,15297370,15285606,15255550,15255109,15199113,15177664,15128046,15122594,15102677,15075793,15072827,15041720,14961553,14744739,14734460,14729846,14656940,14634838,14562027,14520706,17174438,1925598,19913121,20529763,20559649,20568895,20628086,20632082,20634197,20634891,20660114,20678202,10871058,20137445 1599716,728267 1545 NM_000104,NG_008386,AC009229,AF171066,AF450132,AY393998,CH471053,DQ016495,DQ359216,U56438,AK303862,AK312686,BC012049,BP326939,BT019979,BT020001,DA662236,U03688 NP_000095,AAY15039,AAG43404,AAM50512,AAQ87875,EAX00382,EAX00383,AAY34975,ABC95161,AAC50809,BAG64801,BAG35566,AAH12049,AAV38782,AAV38804,AAA19567,Q16678,Q2HZ43,Q4U3K8,Q53TK1,Q5TZV6 Hs.154654 CP1B|GLC3A|P4501B1 CYPIB1|aryl hydrocarbon hydroxylase|cytochrome P450 1B1|cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)|cytochrome p450, subfamily 1b, polypeptide 1|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 1606532 CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq] 15191668,15128046,14702039,12975309,12477932,11178272,9890157,20966902,19898482 57404 NM_177538,NG_007956,AC011737,AC080075,CH471063,AF183412,AF289579,AK021770,AK297082,AK307931,AL832998,AY359068,BC020616,BC033752,BC093022,BM141805,BM142090,BM998900,CR590564,CR595024 NP_803882,Q53RS5,Q567U3,Q658T6,Q6UW02,Q8WZ13,Q9HC04,ABM81844,ABM84994,ABM84995,AAX88915,AAY14934,EAW70332,EAW70333,EAW70334,AAG09681,AAL55763,BAG59599,CAH56305,AAQ89427,AAH20616,AAH33752,AAH93022 Hs.446065,Hs.707756 CYP-M|MGC22229 OTTHUMP00000206151|cytochrome P450 20A1|cytochrome P450 monooxygenase protein-coding 1347734 CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene 12107411,14574404,15028279,19135723,19505723,19624807,19201236,18039588,17666484,17275379,15941926,15793784,15036125,14502362,12121677,3487786,3486422,3038528,2845408 1590 BX679671,CD014134,XM_003119334,XM_003119378,XM_003119379,NG_004658,AL645922,M12793,M13935,M26857 A6NCC7,XP_003119382,XP_003119426,XP_003119427 Hs.654479 CYP21A|CYP21P|P450c21A pseudo 1346271 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,4889127,4889549 20587039,20587610,20661889,20685352,15493145,15342556,15128046,15126570,15110320,15027205,15004406,14733808,14715874,14702039,14676461,14676460,14671153,14514162,14502362,12966197,12915679,12887291,12876419,12855227,12788889,12788880,12788866,12746407,12477932,12464252,12384784,12370110,12222711,12220458,12213891,12213672,12121677,12050257,12050231,12038604,12028996,11836313,11746135,11739456,11692155,15572419,19624807,19598235,19531083,19505723,19501079,19453261,19449670,19272182,19226270,19208730,19201236,19158234,19137635,19135723,19116923,19085698,19062540,19058224,19039234,18973462,18825878,18787377,18702679,18636124,18589890,18505908,18478071,18445671,18397975,18392095,18381579,18319307,18204270,18179706,18042312,18039588,18028896,17878254,17803691,17666484,17551464,17526939,17505149,17466088,17119906,17047018,17033937,16984992,16788163,16728546,16712666,16648810,16541276,16500637,16487445,16427797,16344560,16238926,16046588,15988383,15858147,15830218,15818055,15793784,15775714,15761541,15751603,15705377,15627780,15608154,15598692,17275379,20423741,11600539,11598371,11581476,11457572,11287026,11232002,11093272,11073721,10720040,10496074,10443693,10408786,10408778,10391209,10364682,10343159,10229037,10207042,10198222,10094562,10072631,10051010,9661649,9580109,9497336,9215318,9187661,9099896,9067760,8989258,8968761,8731325,8675607,8518786,8485582,8478006,8372604,8175971,8081391,7749410,7635470,7629224,7096533,5804199,3871526,3500473,3487786,3486422,3260033,3260007,3257825,3137812,3038528,2827462,2788081,2325662,2303461,2249999,2072928,1985465,1937474,1864962,1644925,1496017,1406709,1406699,1351548,2845408,20132843,15583024,19347184,19420818,19423540,19773403,19799922,19844122,19890026,19925038,19930153,20029944,20059433,20070950,20080860,20110635,20201644,20233785,20406964,20438785,20617557,19856253,20818501 4889127,4889549 1589 GQ222299,GQ222300,GQ222302,GQ222303,GQ222304,GQ222305,K02771,M12792,M13936,M19711,M21550,M26856,GQ222298,M28548,S60612,X58898,X58899,X58900,X58902,X58904,X58906,X58907,AK054616,AK314651,AM086564,AM086565,AM183945,AM183946,AM183947,AM183948,AM183949,AM183950,AM183951,BC125181,BC125182,BC128535,BP198315,DA014348,M17252,NM_001128590,NG_000013,NG_004658,NG_005163,NG_007941,AF019413,AF077974,AL049547,AL645922,AL662828,AL662849,AL929593,BX679671,CH471081,CR753845,CR936924,GQ222275,GQ222276,GQ222278,GQ222279,GQ222280,GQ222281,GQ222282,GQ222283,GQ222284,GQ222285,GQ222287,GQ222289,GQ222290,GQ222291,GQ222292,GQ222293,GQ222295,GQ222297,NM_000500 ACT35424,ACT35425,ACT35426,ACT35428,ACT35429,ACT35430,ACT35431,AAA59706,AAB59440,AAA59695,AAA83248,AAA52063,AAA52064,AAA52065,AAD13914,CAA41702,CAA41703,CAA41704,CAA41706,CAA41707,CAA41709,CAA41710,BAB70774,BAG37212,CAJ31103,CAJ31104,CAJ75799,CAJ75800,CAJ75801,CAJ75802,CAJ75803,CAJ75804,CAJ75805,AAI25182,AAI25183,AAI28536,AAA59985,P08686,Q08AG9,Q16741,Q16742,Q16746,Q16748,Q16874,Q1EM51,Q1EM52,Q1EM53,Q1H8Y2,Q1H8Y3,Q1H8Y4,Q1H8Y5,Q2UVX5,Q2UVX6,Q5ST44,Q7KYP0,Q7KZ07,Q96NU8,Q9UP07,NP_000491,NP_001122062,AAB67982,AAD45405,CAB89301,CAQ09290,CAQ09291,CAI17479,CAI17480,CAI41778,CAI41779,EAX03570,EAX03571,CAQ10920,CAQ10921,CAQ07658,CAQ07659,ACT35401,ACT35402,ACT35404,ACT35405,ACT35406,ACT35407,ACT35408,ACT35409,ACT35410,ACT35411,ACT35413,ACT35415,ACT35416,ACT35417,ACT35418,ACT35419,ACT35421,ACT35423 Hs.654479 CA21H|CAH1|CPS1|CYP21|CYP21B|MGC150536|MGC150537|P450c21B 21-OHase|21-hydroxylase|cytochrome P-450c21|cytochrome P450 21|cytochrome P450 XXI|cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2|cytochrome P450-C21|cytochrome P450-C21B|steroid 21-hydroxylase|steroid 21-monooxygenase protein-coding 1606586 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19913121,20460683,20628086,20654748,20687218,20587525,17426122,19170196,19454612,19625176,19667160,19692168,19706847,19852851,19891555,19901270,19922790,20007432,20394945,20453000,20541252,8506296,17023519,7632726,16720713,19505920,19453261,19393625,19343046,19255064,19237542,19097033,18843020,18824104,18676680,18467787,17932346,17875655,17646648,17606874,17585873,17475215,17368180,17254772,17244366,17223345,17079137,16708384,16691293,16617161,16600026,16516540,16457885,15919092,15788398,15630458,15358094,15146197,15128046,15078099,14760115,14665637,12855575,12641633,12485911,12477932,11780052,11149490,10218951,8440135,8266831,7938037,7829101,7595086,20809279,20847308,20877624,20591973,20304053,20304056,20304059,20398751,15583024,15951480,20450955 1591 NM_001128915,NM_000782,NG_008334,AL138805,CH471077,U60669,AI400154,AW022349,AY858838,BC109083,BC109084,BI491491,BM928702,BU662901,CN311231,L13286,N29030,S67623 NP_001122387,NP_000773,CAB91829,EAW75573,AAB03776,AAW50795,AAI09084,AAI09085,AAA62379,AAB29308,Q07973,Q32ML3,Q5I2W7 Hs.89663 CP24|CYP24|MGC126273|MGC126274|P450-CC24 1,25-@dihydroxyvitamin D3 24-hydroxylase|1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial|24-OHase|cytochrome P450 24A1|cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)|cytochrome P450-CC24|exo-mitochondrial protein|vitamin D 24-hydroxylase|vitamin D(3) 24-hydroxylase protein-coding 731375 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq] 737785,1580863 20693622,20682464,19519282,19553612,19703508,20167577,20375987,12727970,10976925,10874126,10583049,9826557,9716180,9521883,9228041,8601734,9228017,10823918,14532297,18992717,18059332,17460545,17218384,17059167,16933217,16778795,16463413,16194896,16053444,15281009,15128046,14702039,20513361 737785 1592 NM_057157,NM_000783,NG_008067,AL358613,CH471066,AF005418,AK027560,AK075374,CR598753,CR604765 NP_476498,NP_000774,CAH72803,CAH72804,EAW50078,EAW50079,AAB88881,BAG51346,O43174,Q5VXH9,AAI56284,AAI57064 Hs.150595 CP26|CYP26|P450RAI|P450RAI1 P450, retinoic acid-inactivating, 1|cytochrome P450 26A1|cytochrome P450 retinoic acid-inactivating 1|cytochrome P450, subfamily XXVIA, polypeptide 1|cytochrome P450RAI|cytochrome p450, 26, retinoic acid|hP450RAI|retinoic acid 4-hydroxylase|retinoic acid-metabolizing cytochrome protein-coding 736189 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and the synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene is involved in the specific inactivation of all-trans-retinoic acid to hydroxylated forms, such as 4-oxo-, 4-OH-, and 18-OH-all-trans-retinoic acid. [provided by RefSeq] 1580863 10823918,14532297,16933217,16574820,15815621,15489334,15128046,12477932,12101034,11744378,10545224,20606468,19703508,19884280,20375987 56603 NM_019885,NG_007957,AC007002,CH471053,AF252297,AK313433,AW873673,BC069443,BC109205,CR749631,AK294814,AK294933,AK295683,FJ467289 NP_063938,AAY14690,EAW99761,AAF76003,BAG36224,AAH69443,AAI09206,CAH18425,Q68D05,Q9NR63,BAH11892,BAH11930,BAH12154,ACR19332 Hs.91546 CYP26A2|DKFZp686G0638|MGC129613|P450RAI-2 cytochrome P450 26A2|cytochrome P450 26B1|cytochrome P450 CYP26B1 variant 2|cytochrome P450 retinoic acid-inactivating 2|cytochrome P450 retinoid metabolizing protein|cytochrome P450RAI-2|retinoic acid-metabolizing cytochrome protein-coding 1318849 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq] 16385451,19703508,16933217,14532297,15164054,15128046 340665 CH471066,NG_007958,AL358613,NM_183374,AK127234,AK131099,AY356349 NP_899230,CAH72802,EAW50080,EAW50081,BAC85149,AAQ55485,Q6V0L0,Q6ZNJ6 Hs.369993 FLJ45301 cytochrome P450 26C1 protein-coding 1346613 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq] 1600654,1600872,1600874,1580863 19913121,20628086,20654748,19671838,19852851,20450308,1708392,9790667,19343046,19255064,18791760,18227423,17875655,17697869,17482558,17292862,17088262,16930540,16584175,16372260,16157755,15708352,15533057,15489334,15340076,15128046,20809279,20855565,20877624,14741198,14672608,12777473,12477932,12242561,12119285,12117727,12011083,12000359,11903362,11604260,11167933,10519880,9373149,9215552,9186905,8514861,8125298,7915755,7690968,2019602 1600654,1600872,1600874 1593 AK226039,AK290418,AK310782,AY178622,BC017044,BC040430,BC051851,CR590744,CR592594,CR623283,M62401,X59812,NM_000784,NG_007959,AC009974,CH471063,S62709 AAB27199,BAF83107,AAO21126,AAH40430,AAH51851,AAA52142,CAA42481,Q02318,NP_000775,EAW70653,EAW70654,EAW70655 Hs.516700 CP27|CTX|CYP27 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase|5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase|5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase|cholestanetriol 26-monooxygenase|cytochrome P-450C27/25|cytochrome P450 27|cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1|sterol 26-hydroxylase, mitochondrial|sterol 27-hydroxylase|vitamin D(3) 25-hydroxylase protein-coding 69201 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq] 2307312,2307310,2307313,2307311,2307322,2307324,2307321,1600874,734871,1580863 19913121,20628086,20648053,20654748,20687218,9344864,9333115,19343046,19255064,19219539,19154546,19064572,18843020,18768522,18767934,18767073,18689381,18676680,18495603,18476984,17932346,17878529,17606874,17488797,17426122,17395703,17395559,17368179,17287116,17267208,17254772,17250953,17236759,17223345,17207994,17207990,17079137,17023519,16720713,16549446,16061850,15956353,15947108,15934135,15795327,15589699,15342556,15331405,15296474,15243130,15225751,14671156,12855575,12746631,12520522,12496369,12477932,12386916,12161526,12137802,12107095,12050281,12050193,12039697,10566658,10359826,10320521,9837822,9486994,9428799,9415400,9295274,9282826,1971995,20701904,20809279,20847308,20877624,1690216,1662663,12457456,11799066,15583024,15951480,19170196,19453261,19454612,19505920,19524013,19525955,19625176,19667158,19706847,19783860,19852851,19891555,19951419,19966181,19998245,20007432,20082271,20453000,20518841,20152900,20304056,20534770 2307312,2307310,2307313,2307311,2307322,2307324,2307321,1600874,734871 1594 NM_000785,NG_007076,AB005990,AB006987,AC025165,AF027152,AF072470,AF256213,AF500480,AY288916,CH471054,AB005038,AB005989,AF020192,AF246895,AK314953,AW449645,BC001776,BC020267,BC136386,BP296031,DQ925362,DQ925363,DQ925367,DQ925368,DQ925369,DQ925370 NP_000776,BAA22657,BAA23418,AAC51854,AAD38325,AAG00416,AAM21669,AAP31972,EAW97067,BAA23416,BAA22656,AAC51853,AAF64299,BAG37458,AAI36387,O15528,Q548T3,Q8NI03,Q9UP42 Hs.524528 CP2B|CYP1|CYP1alpha|CYP27B|P450c1|PDDR|VDD1|VDDR|VDDRI|VDR 1alpha(OH)ase|25 hydroxyvitamin D3-1-alpha hydroxylase|25-OHD-1 alpha-hydroxylase|25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial|VD3 1A hydroxylase|calcidiol 1-monooxygenase|cytochrome P450 subfamily XXVIIB polypeptide 1|cytochrome P450C1 alpha|cytochrome P450VD1-alpha|cytochrome p450 27B1 protein-coding 1605811 CYP27C1 cytochrome P450, family 27, subfamily C, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq] 15128046,12477932,20707712 339761 NM_001001665,NG_007986,AC110926,CH471103,AK131190,BC039307 NP_001001665,EAW95308,EAW95309,EAW95310,BAD18388,AAH39307,Q4G0S4 Hs.407639 FLJ16008 cytochrome P450 27C1|cytochrome P450, family 27, subfamily C, polypeptide 13 protein-coding 1353365 CYP2A cytochrome P450, family 2, subfamily A 15128046 1546 NG_000008 1352512 CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq] 1580863 20846153,19414505,19343046,19303722,19290787,17428784,16835796,16316926,15618722,15333516,15222883,15128046,15115698,15063809,14633739,12920161,12721789,12130698,11016631,10353262,9890157,8587134,7668294,7581481,20431511,20568895,15196988,18669584,19789190,19812523,20534012,20534018 1553 NM_000766,NG_000008,NG_007928,AC008962,CH471126,U22028,AF209774,AY513604,AY513605,AY513606,AY513607,AY513608,AY513609 NP_000757,EAW57016,AAB40519,AAG35775,AAR90935,AAR90936,AAR90937,AAR90938,AAR90939,AAR90940,Q16696,AAI48423,AAI53001 Hs.567252 CPAD|CYP2A CYPIIA13|cytochrome P450 2A13|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13 protein-coding 1343424 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq] 1580863 11278503,11259349,11241319,11237731,11207029,11054771,10781881,10544257,9890157,9409631,8587134,7668294,7581481,4011450,3856261,2748347,2726448,1944238,1889415,15039299,15665333,7864805,9827545,2322567,19415821,19406142,20887713,18360915,18216723,18212800,18188752,18004205,17979512,17934923,17927692,17916905,17683511,17646279,17549345,17540336,17522595,17454707,17267622,17259654,17220563,17207267,17156750,17130279,17112802,17036930,17015050,16952495,16891249,16857725,16758265,16720336,16636685,16470306,16452582,16402128,16402086,16378601,16377082,16372023,16344560,16272956,16207711,16176798,16126166,16086027,16048566,16041240,16006997,15993850,15940289,15900015,15861044,15861035,15671201,15660270,15618701,15592323,15564629,15534625,15489334,15475735,15469410,15454735,15370155,15327835,15308589,15225612,15203795,15128046,14981342,14583682,14568264,12883749,12844137,12749606,12721789,12708602,12477932,12445030,12419832,12406643,12325023,12223434,12172220,12164325,12162851,12115524,11960914,11960911,11927840,11927498,11805739,11725533,11684323,11434509,19371316,19365400,19361454,19343046,19339270,19303722,19300303,19290787,19279561,19225447,19104915,19082995,19040121,19012698,18979093,18976031,18941913,18936436,18715882,18698229,18666753,18510611,18425152,18380793,20139165,20596643,20647221,20717551,15680923,18356043,19029318,19251454,19387893,19454817,19479063,19533856,19537956,19604090,19643819,19651758,19659438,19703308,19751749,19779319,19789190,19845430,19921195,19956635,20061389,20089352,20136358,20155256,20173083,20177288,20336063,20418888,20437850,20438369,20506136,20012030,20418890,20701904,20734048,20734064,20860463,19702528 1548 NG_000008,NG_008377,AC008537,AF326721,CH471126,EU135979,FJ440681,U22027,AF182275,AK307740,AK309594,AK312964,BC096253,BC096254,BC096255,BC096256,DA641580,M33318,X06401,X13897,X13929,NM_000762 AAG45229,EAW57012,ABV02584,ACK44068,AAB40518,AAF13600,BAG35803,AAH96253,AAH96254,AAH96255,AAH96256,AAA52067,CAA32097,CAA32117,P11509,Q13120,NP_000753,ADR83022 Hs.250615 CPA6|CYP2A|CYP2A3|P450C2A|P450PB CYPIIA6|coumarin 7-hydroxylase|cytochrome P450 2A6|cytochrome P450 IIA3|cytochrome P450(I)|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6|flavoprotein-linked monooxygenase|xenobiotic monooxygenase protein-coding 1353273 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq] 1580863 7864805,16636685,15128046,12477932,12325023,11960914,10493259,10353262,9890157,8587134,8043031,7668294,2322567 1549 NM_030589,NM_000764,NG_000008,NG_007960,AC008537,CH471126,BC117165,BC143325,M33317,U22029 NP_085079,NP_000755,EAW57013,EAW57014,AAI17166,AAI43326,AAA52138,AAB40520,P20853,Q17RW7 Hs.719890 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 cytochrome P450 2A7|cytochrome P450 IIA4|cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 protein-coding 1354364 CYP2A7P1 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 11692077,8587134,7668294 1550 NG_000008,AC008537,AC011541,AC023172,AC092071,U22030,U22044 Hs.719890 CYP2A18PC|CYP2A18PN|CYP2A7P2|CYP2A7PT pseudo 1350022 CYP2B cytochrome P450, family 2, subfamily B 1554 1346751 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq] 1580863 20529763,20602615,20610889,20625352,20639527,20662624,20668445,20677014,20696882,20720517,20723261,17654295,17638512,17559344,17502835,17465455,17455229,17407229,17391322,17356468,17352764,17329992,17235330,17223085,17178267,17054410,17047492,17015050,16951995,16912957,16815693,16772608,16623664,16538176,16506047,16495778,16433869,16392089,16338275,16267764,16183265,16125881,16116487,15864119,15825040,15622315,15572372,15563456,15284537,15248218,15194512,15190123,15178651,15128046,15057824,14977870,14515060,12814665,12738724,12721789,12642465,12629583,12571232,12490624,12477932,12439223,12242601,12207635,11991950,11602525,11470993,11353758,11298076,11243870,10768437,10471061,10037683,15469410,15383491,9890157,9179987,8587134,8432525,7668294,2899870,2813061,2573390,2308828,15319333,15039299,20622021,20624854,20517174,19486190,19474786,19474465,19467232,19464434,19433561,19425200,19414633,19376514,19371316,19343046,19290787,19282874,19239339,19228205,19225447,19218571,19144407,19124658,19106084,19076156,19074885,19005482,18989234,18979093,18978480,18854779,18839779,18784455,18728241,18621926,18496131,18332083,18303024,18287571,18281305,18223457,18171905,18090046,18057928,18024866,18004205,17918089,17900275,17885627,17682072,18356043,19029318,19531981,19593168,19651758,19659438,19682083,19693007,19696793,19704172,19779319,19797611,19812066,19833192,19916993,19926050,19944064,20017669,20079471,20089352,20096935,20136364,20173083,20179710,20307138,20338069,20350955,20361990,20418888,20459744,20642445,20734064,20841522,20860463,20861742,20876786,20878158,20881953,20952418,20970553,21108329,19702527 1555 NM_000767,NG_000008,NG_007929,AC011541,AC023172,AF081569,CH471126,DQ298753,AF182277,AK301620,BC067430,BC067431,M29874,X06399,X06400,X13494 NP_000758,AAF32444,AAD25924,EAW57015,ABB84469,AAF13602,BAG63105,AAH67430,AAH67431,AAA52144,P20813,Q6NWU1,Q6NWU2,Q9UNX8 Hs.1360 CPB6|CYP2B|CYP2B7|CYP2B7P|CYPIIB6|IIB1|P450 cytochrome P450 2B6|cytochrome P450 IIB1|cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6 protein-coding 1347013 CYP2B7P1 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 17885627,15128046,12477932,7668294,2573390 1556 NG_000008,AC008537,AC092071,AK307933,AK310944,BC041174,DQ198366,DQ198367,M29873,NR_001278 ABB05542,ABB05543,Q14097 Hs.529117 CYP2B|CYP2B7|CYP2B7P pseudo 1322740 CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20529763,16359177,16385451,19578179,19706858,19751749,19958090,20045989,20453000,8110777,19290787,19204726,19074885,19038035,17048007,15489334,15302935,15164054,15128046,12694732,12477932,12378636,11093772,10768437,10704292,10487415,9890157,9797707,9373149,9154796,9028867,8333835,8125298,8095407,7704034,2009263,1896026,1306110,15319333,17207965 1562 NM_000772,NM_001128925,NG_008373,AL157835,AL583836,CH471066,L16876,S63426,X56452,AK223510,AK308558,AK313403,BC069666,BC096257,BC096258,BC096259,BC096260,BJ993698,BX538127,M61853,M61856 NP_000763,NP_001122397,EAW50024,AAA02630,ABB76283,CAA39833,BAD97230,BAG36199,AAH69666,AAH96257,AAH96258,AAH96260,CAD98029,CAH74067,AAB59356,P33260,Q16750,Q2XN56,Q4VAT5,Q53EX9,Q7Z348,ADQ31959 Hs.511872 CPCI|CYP2C|CYP2C17|DKFZp686I24235|P450-6B/29C|P450IIC17 (S)-mephenytoin hydroxylase associated cytochrome P450|CYPIIC18|cytochrome P450 2C18|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18|cytochrome P450-6B/29C|flavoprotein-linked monooxygenase|microsomal monooxygenase|unspecific monooxygenase protein-coding 737416 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq] 1580863,1357962,1300048 20529763,20002085,20559522,20573087,20602612,20602615,20633187,20637959,20650435,20665013,20669013,20673183,20679960,20684753,20708365,20716239,20716514,20724801,20801494,20801498,20804307,17279092,17269966,17215846,17203292,17201743,17178267,17112810,17052843,17048007,17047492,17047431,17003844,16960452,16946555,16937451,16924387,16912869,16911688,16908943,16890578,16890574,16873909,16863547,16862439,16855453,16815316,16815315,16812949,16789993,16783561,16772608,16771603,16740190,16641871,16638864,16595916,16487225,16487224,16413245,16338280,16338278,16338275,16307177,15090156,15068562,15025747,15017629,14998561,14990013,14695703,14659971,14653835,14636465,14634838,14634042,14616425,14583683,14520122,13680037,12975335,12963435,12950145,12919183,12900872,12900870,12879168,12835613,12823155,12809821,12732844,12698310,12656699,12642692,12623762,12534411,12496751,16268979,12477932,12468438,12464799,12445035,12419832,12386647,12360109,12235924,12222750,12172336,12171978,12142727,12130704,12121503,12047484,11956668,11950794,11927837,11908757,11865668,11836688,11829201,11791894,11785712,11773867,11763000,11713950,11686476,11474773,11372584,11263781,11240980,11207032,11076863,11037802,10411572,19199010,19193970,19193675,19192051,19172254,19169185,19166419,19164093,19156902,19151603,19139162,19136640,19129087,19108880,19106084,19106083,19102714,19074885,19069365,19038035,19033450,19025845,19002442,18996102,18982321,18979093,18957504,18936436,18854824,18854779,18823430,18781853,18765869,18751689,18702650,18677622,18676680,18654768,18644391,18641551,18637061,18581106,18577829,18551037,18532997,18521743,18520598,18520596,18518848,18511451,18510611,18496682,18496131,18482659,18466100,18425152,18423013,8110777,3442670,19219744,19576320,19516253,19499406,19496924,19474452,19430176,19429918,19424794,19415824,19415745,19414633,19407662,19404631,19398604,19350405,19348299,19343046,19337788,19336370,19299322,19290787,19268736,19261446,19259653,19246508,19238367,19236548,19220726,18399167,18394438,18382661,18356043,18346178,18323861,18319058,18312490,18294333,18241287,18241283,18240905,18240903,18231117,18224311,18223462,18214455,18211619,18205890,18154472,18061941,18057705,18024866,18021343,18004210,17992535,17978853,17966194,17934830,17924835,17922881,17909762,17900275,17875119,17868191,17827141,17697203,17697139,17681590,17680025,17667959,17667801,17666363,17635181,17635176,17625515,17623107,17562299,17559380,17504998,17502835,17487889,17455109,17450472,17439410,17433262,17424941,17418993,17417917,17410461,17407229,17377957,17358097,17357148,17304159,17298483,17295875,17290075,16267764,16261363,16239354,16236141,16232205,16231968,16220110,16198656,16183265,16141610,16133961,16116487,16048566,16025294,16024198,16021435,16012079,16006997,15976989,15963095,15963082,15952098,15932363,15903128,15856433,15855721,15842554,15813658,15776277,15752376,15715938,15691505,15691303,15662508,15660966,15651900,15639978,15612662,15608563,15590749,15569425,15499191,15496639,15469410,15448955,15447734,15385837,15385836,15371981,15349706,15327595,15301728,15285851,15284537,15248218,15222046,15205367,15177309,15171646,15164054,15145965,15128046,15119530,10233205,10022751,9890157,9732415,9435198,9398194,9103550,8894508,8530044,8195181,8095407,7969038,7704034,2009263,15319333,15039299,15680923,16401082,19029318,19170196,19176055,19531897,19534586,19546880,19552744,19578179,19583677,19593158,19593168,19617466,19621685,19624462,19625176,19636337,19638460,19651758,19661214,19692168,19693007,19696793,19702490,19706858,19745563,19751749,19761366,19773541,19817997,19821196,19823875,19840783,19841156,19847408,19881258,19884907,19890215,19891553,19904250,19926050,19928008,19932784,19933691,19934793,19940233,19942749,19954515,19954746,19956635,19961004,19968574,20015960,20064729,20078610,20083681,20088379,20113968,20147896,20173083,20179710,20206639,20207952,20223877,20235787,20236133,20297661,20309015,20349052,20350051,20350136,20351750,20356512,20358205,20360782,20373852,20376628,20390258,20414645,20430047,20457439,20460345,20468063,20492431,20492467,20492469,20499227,20510210,20528170,20531370,20533108,20549256,20549497,8647857,20040040,20581929,20620727,20826260,20979470,20163283,19907421,20565970,20823393,20831535,20831536,20831548,20833683,20838991,20845077,20857895,20863179,20885015,20924183,20926021,20941486,20965456,20970553,20976881,20978260,21038076,21047200,21054462,21054464,21071160,21075428,21079055,21108329,20845310 1357962 1557 NM_000769,NG_008384,AB113829,AL133513,AL583836,AY796203,L39098,L39102,M61854,X65962 NP_000760,BAD02827,CAH73444,CAH74068,AAV41877,AAL31347,AAL31348,AAB59426,CAA46778,P33261,Q16743,Q767A3,AAI11847 Hs.282409 CPCJ|CYP2C|P450C2C|P450IIC19 (R)-limonene 6-monooxygenase|(S)-limonene 6-monooxygenase|(S)-limonene 7-monooxygenase|CYPIIC17|CYPIIC19|S-mephenytoin 4-hydroxylase|cytochrome P-450 II C|cytochrome P450 2C19|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19|cytochrome P450-11A|cytochrome P450-254C|cytochrome p450, subfamily iic (mephenytoin 4-hydroxylase)|flavoprotein-linked monooxygenase|mephenytoin 4'-hydroxylase|mephenytoin 4-hydroxylase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 1606589 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq] 2316509,2316977 19913121,20529763,20602612,20602615,20628086,20665013,20808793,15039299,16385451,18619574,19470925,19480553,19504558,19651758,19706858,19761371,19773535,19833260,19935798,19954515,20013305,20031551,20136364,20173083,20190184,20212519,20214592,20368717,20375710,20379614,20389299,20436375,20437850,20523106,9842986,19415824,19381162,19343046,19339270,19290787,19143748,19129086,19074885,19064572,19023099,18992346,18779360,18769365,18694831,18594024,18574320,18548238,18496133,18413310,18303964,18216720,17975119,17925548,17923851,17913794,17701008,17670841,17635176,17627038,17558302,17429317,17373732,17241877,17224914,17178266,17175891,17048007,16957870,16856883,16646575,16538176,16475901,16390351,16372821,16359408,16299241,16253141,16202848,16164496,16141797,16025294,15961978,15933212,15901749,15864120,15785959,15716363,15606441,15469873,15469410,15289789,15128046,15074466,14676196,14646690,14534525,12936704,12920163,12756196,12477932,12435384,12429347,11668219,10874126,10768437,10704292,10487415,9890157,9797707,9586955,15028279,8530044,7841444,7704034,7574697,3697070,3500169,3196692,2729895,2216732,2009263,1707679,12756206,15319333,8870687,20857895,20970553,21047199,21054465 2316509,2316977 1558 NM_000770,NG_007972,AL359672,AY514490,CH471066,X54807,AK292753,AK293327,AK293328,AK298401,AK303813,AK315823,BC020596,M17397,M17398,M21941,M21942,X51535,Y00498,CD014119,NM_001198853,NM_001198854,NM_001198855 NP_000761,CAH71307,AAR89907,EAW50016,EAW50017,EAW50018,CAA38578,BAF85442,BAH11491,BAH11492,BAH12777,BAH14057,BAF98714,AAH20596,AAA35739,AAA35740,AAA52160,AAA52161,CAA35915,CAA68550,P10632,ABM82326,ABM85505,NP_001185782,NP_001185783,NP_001185784 Hs.709188 CPC8|CYPIIC8|MP-12/MP-20 CYPIIC8|P450 form 1|cytochrome P450 2C8|cytochrome P450 IIC2|cytochrome P450 MP-12|cytochrome P450 MP-20|cytochrome P450 form 1|cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8|flavoprotein-linked monooxygenase|microsomal monooxygenase|s-mephenytoin 4-hydroxylase|xenobiotic monooxygenase protein-coding 1317784 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq] 2307148,2307150,2307149,2307152,2307153,2307154,2307151,1580863,2316977,2316509 20529763,20553802,19913121,20555338,20585445,20585834,20597268,20602612,20602615,20602621,20615525,20628086,20637959,20653674,20653676,20665013,20677151,20679960,20709439,20716240,20733952,20808793,20811787,19319511,19300499,19297219,19290787,19280158,19258521,19233910,19233181,19225451,19223558,19221727,19207028,19202563,19199010,19192051,19181737,19177029,19164093,19151603,19139476,19136640,19135231,19117406,19106084,19099951,19082874,19077919,19074885,19074728,19064572,19053752,19031075,19026171,19018719,19010418,19005461,18996102,18992346,18992263,18992148,18990750,18971529,18950464,18936436,18922023,18855533,18854779,18370846,18356043,18340006,18322281,18315785,18310303,18305455,18303964,18281915,18252229,18240905,18240903,18231117,18216720,18211048,18204476,18183038,18154472,18061941,18034619,18034618,18030307,18024866,18021343,17989110,17955230,17900275,17899045,17895500,17868191,17851566,17849045,17827141,17764537,17721328,17686967,17681167,15128048,15128046,15116053,15116052,15102864,15100169,15090156,15070684,15066644,15061384,15050794,15048614,15024534,15005635,15001972,15001971,14739630,14726986,14707031,14691574,14691573,14676821,14661864,14656880,14646690,14634838,14634042,14616425,14614357,14583800,14520122,14504850,14500040,12950145,12913403,12900870,12891229,12879168,12861225,12844136,12805007,12803577,12800253,12734606,12732844,12728288,12698304,12682803,12668916,12634980,12621390,12603175,12559973,12534640,12509498,12496751,12477932,12464247,12451434,12445031,12435384,12426520,12419832,17653141,17635185,17635181,17635176,17627038,17627011,17603219,17597710,17596671,17596133,17577464,17572144,17562299,17558303,17510308,17504998,17479200,17460547,17446262,17419358,17418993,17413769,17397249,17391071,17368604,17332144,17329986,17325732,17324110,17304159,17301738,17298483,17279092,17269966,17226852,17201743,17192772,17178267,17167248,17157122,17111199,17110455,17085674,17049586,17048007,17015052,16985032,16985026,16969365,16957870,16924387,16890578,16882880,16878445,16873909,16847664,16847429,16815313,16797247,16784736,16771603,16749864,16740353,16708125,16699986,16676068,16646575,16639745,16638864,16635054,16630605,16627267,16611750,16595916,16580898,16552506,16541193,16538176,16432637,16424822,16413010,16372821,16342679,16338275,16325295,16321620,16305587,16305586,16303885,16297214,16268502,16253141,16236141,16232205,16220110,16202848,16198656,16198655,16187974,16183265,16160068,16141797,16141794,16116487,16111713,16099926,16094537,16082538,16025294,16006997,15970795,15963101,15961979,15947090,15940194,15924351,15919766,15900282,15900281,15896241,15889670,15888487,15855721,15842554,15841315,15824753,15813658,15795654,15790782,15776277,15742978,15714076,15691505,15660966,15632378,15617742,15608560,15606441,15606435,15592327,15588114,15569819,15569425,15536456,15469410,15452553,15385837,15371982,15370961,15369736,15290664,15289788,15284536,15284535,15260906,15248218,15229460,15226678,15222661,15213846,15199455,15197523,15177309,15175798,15145963,12414349,12406644,12360109,12359989,12235454,12207635,12181452,12152005,12047484,12010835,11991950,11960920,11956512,11950794,11926893,11911968,11908757,11893129,11876753,11833786,11740344,11697742,11678789,11588061,11503012,11455026,11434505,11422024,11397381,11372590,11325819,11298075,11186133,11127854,10739176,10704292,10073515,9890157,9663807,9398194,9110362,8946475,8809086,8530044,8333835,8215449,8095407,7841444,7704034,3697070,3243766,1857342,1445376,15039299,20815369,2827463,19219744,3032244,19495518,19480553,19474452,19450127,19424794,19420105,19415824,19415745,19414633,19387626,19381164,19381162,19369937,19350405,19343046,19339270,19337788,19336370,19324988,18836275,18816302,18793590,18781852,18756910,18754001,18698879,18694831,18690342,18681789,18680736,18669935,18662264,18629445,18597650,18574025,18570163,18559094,18552123,18548238,18542936,18535201,18516070,18511451,18510611,18496682,18496133,18496131,18485885,18480003,18466099,18429757,18425152,18419640,18399713,18378563,18375260,3196692,3079764,2963808,2009263,16385451,16401082,16863464,18619574,18754597,19029318,19448135,19534586,19538716,19538885,19541511,19541829,19545555,19546880,19567378,19578179,19581657,19593158,19593168,19593208,19604036,19605743,19615687,19617466,19651758,19652664,19663669,19663817,19669737,19692168,19696793,19706858,19736056,19745563,19761366,19794411,19822571,19823875,19833260,19847408,19874474,19891553,19891554,19899329,19903527,19926050,19934028,19934793,19935798,19941044,19952982,19954515,19956635,19958090,19995889,20020283,20029944,20031551,20043560,20064729,20072124,20073138,20075209,20088379,20089352,20117066,20121287,20131310,20136364,20147896,20149073,20150829,20173083,20179710,20204461,20207952,20210733,20226775,20228265,20235787,2025243,20297661,20339191,20339978,20351714,20354686,20359257,20373852,20375710,20375999,20376629,20381283,20386359,20390258,20403997,20421126,20430047,20434758,20436375,20437850,20442691,20445534,20453000,20458343,20459419,20459744,20488169,20504253,19942260,20102361,20569971,20831047,20831536,20833655,20833683,20833980,20842355,20852447,20854800,20857895,20884456,20885015,20930419,20937634,20941486,20946155,20962433,20970553,21044367,21047199,21057703,21063236,21068649,21071160,20167002,19925388,20845310 2307148,2307150,2307149,2307152,2307153,2307154,2307151,2316977,2316509 1559 NM_000771,NG_008385,AL359672,AY341248,AY702706,AY904366,CH471066,L16880,L16883,AK289420,AK298458,BC020754,BC070317,BC125054,BJ993098,D00173,M21940,M61855,M61857,S46963,M15331,M21939 NP_000762,CAH71303,AAP88931,AAT94065,AAW83816,EAW50019,EAW50020,AAD13466,AAD13467,BAF82109,BAG60671,AAH20754,AAH70317,AAI25055,BAA00123,AAA52159,AAB23864,P11712,Q5EDC5,Q5VX92,Q6IRV8,Q8WW80,Q9UEH3,Q9UQ59,AAA52157,AAA52158 Hs.282624 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC149605|MGC88320|P450IIC9 cytochrome P-450 S-mephenytoin 4-hydroxylase|cytochrome P-450MP|cytochrome P450 2C9|cytochrome P450 PB-1|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 736217 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 20% of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1358549,1300401,1580863,2316977 15327587,16401082,18356043,18583979,18725510,19170196,19437119,19438707,19444434,19448135,19593180,19604084,19625176,19651758,19656108,19660006,19669977,19692168,19694742,19702490,19710640,19710642,19715474,19719813,19738170,19761369,19781968,19797609,19809024,19823875,19833260,19840783,19866496,19887477,19891553,19892789,19902987,19910717,19937844,19940985,19946748,19947517,19953095,19954080,19954746,19956635,19995332,19997080,20007670,20009880,20031551,20041956,20075642,20081063,20118554,20124171,20136364,20147896,20173083,20174590,20185366,20195825,20201714,20205348,20206139,20297661,20309015,20332423,20335142,20350136,20364044,20368706,20373852,20375710,20385997,20430047,20432045,20435235,20454926,20456744,20459744,20461808,20467479,20473659,20489028,20492431,20515869,20530222,20531370,20547595,19219744,19652678,19639055,19636337,19604091,19604081,19597703,19596663,19593802,19593168,19593158,19575027,19537956,19527514,19523031,19521114,19512959,19474452,19470220,19429471,19421167,19405050,19395173,19387994,16833023,16819548,16815318,16812949,16778723,16775389,16771603,16716118,16679388,16642541,16638864,16638736,16633141,16633140,16611538,16595916,16584388,16551910,16550211,16544144,16537246,16534507,16493615,16490169,16478753,16476126,16466686,16459354,16423440,16415111,16361630,16352597,16337409,16315032,16294366,16283274,16272752,16249913,16239355,16236141,16220080,16205777,16198657,16189709,16162505,19374513,19365402,19364831,19357842,19356055,19350405,19343046,19336370,19330589,19320528,19308365,19303860,19296901,19290787,19284319,19242697,19225771,19219857,19194367,19192051,19189212,19189210,19169185,19164093,19162321,19156902,19153830,19151603,19142106,19095219,19094446,19082882,19071885,19047159,19037197,19033450,19032724,19025845,18553077,18547414,18551040,18545991,18543297,18520597,18520596,18480698,18474679,18474629,18445827,18433425,18429752,18425996,18425152,18423013,18414197,18407954,18401578,18384443,18382661,18372530,18346782,18346175,18327668,18317231,18304900,18300942,18294285,18287869,18280655,18261353,18258609,18240905,18231117,18223460,18214849,18214456,18211048,18204346,18202841,18197300,18183034,18167502,18165569,18086475,18075468,18070221,16835697,16141609,16130179,16079496,16048566,16037945,16025294,16024198,16006997,15987423,15970126,15952058,15932952,15914211,15861039,15855722,15843230,15820320,15817819,15813658,15774926,15770075,15769360,15768052,15764408,15731591,15729081,15726636,15708542,15691505,15690482,15669884,15651900,15648054,15646732,15632378,15625333,15618665,15592325,15590749,15588859,15584944,15538128,15499201,15489334,15484318,15470329,15469888,15469410,15461802,15382273,15349706,15349705,15330195,15313161,15289790,15260906,15256524,15237854,15205367,15177309,15149890,15128046,15118351,15116051,15115913,16160620,15108188,15090156,15068562,15061826,15051713,15048614,15039299,15005635,14991823,14985156,14748763,14726986,14726620,14716707,14658041,14653957,14652703,14640293,14639062,14635107,14624403,14602525,14571354,14557687,14520122,14515061,14514498,14499440,14499311,13680033,12963435,12960748,12950145,12942225,12919180,12915955,12911679,12900872,12900870,12893130,12883230,12879776,12879168,12861292,12784098,12782969,12766554,12748560,12743673,12734765,12728976,12691769,12657030,12651805,12629505,12622923,12616663,12610741,12589966,12579870,12569554,12548461,12536989,12503836,12490310,12486288,12477932,12468438,12459840,12446689,12439227,12438554,12426523,12422998,12421483,12419832,12404686,12392820,12386646,12386645,12360109,12210290,12207635,12206675,12191703,12187002,12177686,12175908,12172336,12172215,12171978,12171760,12152006,12142727,12107620,12106691,12089164,12077255,12065557,12063626,11940091,11927839,11901361,11895912,11829201,11816009,11809184,11791895,11778144,11763000,11753272,11753271,11751440,11750286,11741249,11735606,11702057,11682257,11668217,11560558,11549206,11520401,11505219,11477317,11470994,11442888,11422615,11422605,11376189,11372584,11303596,11295783,11294012,11291049,11266079,11214775,11207032,11207030,11204351,11147929,11097352,11097351,11055624,11037802,11037800,10675100,10493260,10233205,10064570,19019335,19001559,19000940,19000552,18996102,18979093,18978520,18958918,18927241,18840375,18834373,18827765,18818748,18797858,18794105,18794098,18784654,18784265,18754843,18728242,18719619,18713907,18708991,18698000,18690546,18681789,18676680,18666237,18663559,18648788,18641553,18632250,18625943,19024387,18618215,18597648,20421845,20305604,20881950,19387424,9890157,18061941,18048313,18034624,18024866,17992535,17971818,17966194,17965522,17965519,17957765,17947222,17921051,17909762,17908053,17882159,17828532,17803873,17764479,17761971,17725248,17715206,17714084,17713466,17701031,17700359,17697394,17667959,17667795,17635183,17635181,17624022,17610534,17609736,17581325,17573783,17570739,17568504,17554527,17547692,17541883,17536768,17530572,17517247,17503978,17479406,17470523,17460029,17454842,17450472,17449559,17442289,17431033,17418993,17392730,17374963,17361124,17329852,17325735,17324244,17311358,17304721,17301689,17297618,17289397,17270484,17259947,17250723,17244352,17242628,17241532,17234366,17225875,17224713,17194620,17186005,17178267,17115111,17113562,17102541,17089107,17038884,16960721,16924387,16880622,16864175,16858124,16855473,16849011,16845507,9241659,8971426,8655150,8634695,8530011,8449513,8287064,7951238,7927337,7903454,7868129,7845481,3410476,3123997,2574001,2466049,2211621,1978565,1978251,1844820,1673290,11505218,12756206,12006905,15319333,9264312,12756210,20563569,20574415,20588073,20590587,20590588,20597905,20599499,20602615,20634891,20656020,20679960,20684753,20686235,20700584,20727252,20731819,20799519,20809362,20814331,20225176,20643254,16712791,11285084,19907421,20565970,20701904,20827267,20828547,20849243,20851451,20857895,20859244,20863179,20877299,20877302,20878561,20925579,20970553,21063774,21071160,21072184 1358549,1300401,2316977 1565 NM_001025161,NM_000106,NG_003180,NG_008376,AY545216,BX247885,CH471095,DQ211353,DQ211354,DQ211355,DQ282144,DQ282145,DQ282146,DQ282147,DQ282151,DQ282152,DQ282153,DQ282154,DQ282155,DQ282156,AB209492,DQ282157,DQ282158,DQ282159,DQ282160,DQ282162,M33189,M33388,AK308211,AK309600,AY663389,AY663390,BC066877,BC067432,BC075023,BC075024,BC106757,BC106758,BC126858,BX096000,BX422592,CB124853,CK032845,CR456430,M20403,M24499,X07618,X08006,X16865,X16866 NP_001020332,NP_000097,AAS55001,EAW60492,EAW60493,ABB01370,ABB01371,ABB01372,ABB01373,ABB77895,ABB77896,ABB77897,ABB77898,ABB77899,ABB77900,ABB77901,ABB77902,ABB77903,ABB77904,P10635,Q007T9,Q16753,Q16804,Q2XND0,Q2XND2,Q2XND3,Q2XND8,Q38LF9,Q38LG0,Q38LG2,Q3KPF3,Q59FG8,Q5Y7H2,Q6ICD8,Q6NWU0,Q6NXU8,BAD92729,CAK54644,CAK54943,ABB77905,ABB77906,ABB77907,ABB77908,ABB77909,AAA35737,AAA53500,AAU87043,AAH66877,AAH67432,AAH75023,AAH75024,AAI06758,AAI06759,AAI26859,CAG30316,AAA52153,AAA36403,CAA30807 Hs.648256 CPD6|CYP2D|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|CYP2D@|CYP2DL1|CYPIID6|MGC120389|MGC120390|P450-DB1|P450C2D|P450DB1 CYPIID6|cytochrome P450 2D6|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1|cytochrome P450-DB1|cytochrome p450 2d18|debrisoquine 4-hydroxylase|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 1346997 CYP2D7P1 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 This pseudogene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. It is possible that, in rare cases, a combination of two SNPs in this gene may result in an open reading frame encoding a functional enzyme which metabolizes codeine to morphine. This locus is part of a cluster of cytochrome P450 genes on chromosome 22q13.1. [provided by RefSeq] 17494644,16400609,16169517,15051713,12477932,12171760,2574001,1358797 1564 NR_002570,NG_003180,BX247885,M33387,AK308043,AY220845,BC108679,CR614586,CR622160,X58467,AL021878 AAO49806,Q007T8,Q6XP50 Hs.333497 CYP2D|CYP2D7|CYP2D7AP|CYP2D@|P450C2D|P450DB1 pseudo 1352907 CYP2D7P2 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2 1358797 1567 NG_005574,X58467 CYP2D7AP|CYP2D7BP pseudo 1606588 CYP2D8P1 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1 2574001 1568 NG_003180,BX247885,M33387,AL021878 CYP2D8P|CYP2DP1 pseudo 1352043 CYP2D8P2 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2 1358797 1566 NG_000853,X58468 CYP2D7AP|CYP2D7BP pseudo 1345007 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq] 1626305,1626302,2313683,2313687,2313688,2313685,2313684,2313686,1580863,1626307,4892076 11776598,11774269,11766168,11751440,11748356,11746208,11719088,11700262,11697456,11696658,11675150,11641039,11535253,11535247,11520401,11503278,11422615,11410713,11406608,11389775,11377232,11331106,11305777,11275366,11263781,11259352,11236836,11207032,11198676,11191882,11104220,11051375,10620320,9918138,9890157,9834965,9398194,9129165,9058590,8809087,8307581,8031147,7773503,7733943,7529759,3782137,3675576,18369917,18327668,18322963,18304215,18261353,18258609,18231117,18218609,18211048,18056994,18034693,18028774,18025800,17996038,17963298,17950035,17935737,17916905,17885617,17695473,17659824,17627011,17617119,17611777,17603900,17584020,17577619,17564586,17559142,17498780,17486761,17442289,17440116,17427487,17384900,17380320,17373732,17367411,17361553,17331164,17292341,17284772,17264406,17219769,17178637,17176083,17156750,17146594,17134659,17119944,17119198,17118447,17078101,17059334,17034788,17022435,17016589,17007050,16985032,16985026,16962935,16841220,16837478,16834659,16770646,16758119,16721740,16720291,16679316,16634857,16600530,16551616,16535827,16497268,16488179,16484137,16471212,16470306,16459354,16440362,16425414,16424825,16393248,16380384,16372174,16365683,16337880,16324524,16311924,16253141,16235992,16235983,16172237,16142352,16137184,16126235,16125881,16052683,16043197,16039674,16019049,16006997,15991278,15968714,15961886,15952134,15938845,15928955,15914277,15914211,15902904,15899651,15849806,15793883,15780023,15774926,15769360,15763499,15753073,15734972,15714076,15712341,15660387,15646021,15640066,15633127,15632182,15536330,15532721,15519646,15491310,15469410,15370874,15355699,15349722,15327835,15318112,15289170,15226677,15220553,15215328,15182482,15177663,15162526,15138035,15128046,15125228,15112335,15066574,15064998,15061915,15036355,14991750,14757192,14751678,14696128,14695664,14695651,14691069,14681495,14669323,14661969,14646291,14634838,14606109,14578150,14535982,14527082,14510941,14500779,12960506,12940444,12939804,12915519,12883749,12883487,12860273,12851035,12824892,12824748,12813050,12777965,12777962,12777398,12774019,12771559,12767509,12760253,12759747,12739102,12738724,12732844,12721789,12718671,12718576,12710951,12707490,12705718,12668988,12601351,12579334,12569554,12563175,12561466,12554615,12552594,12548461,12540498,12490624,12477932,12469218,12460800,12454736,12452057,12403788,12397416,12376511,12376502,12365037,12355548,12351530,12211622,12198369,12172927,12115524,12080432,12063626,12055050,12047484,12010862,11966948,11964928,11960914,11911601,11907164,11895912,11869835,11854903,11815398,11802217,11798822,11782477,20463018,19796841,10731522,10741631,11701230,3233219,19219744,19643819,19575027,19537956,19528831,19521675,19506726,19492240,19489076,19481674,19428381,19390575,19382518,19381774,19357030,19351467,19343046,19339548,19336370,19334053,19290787,19288740,19267064,19250143,19230487,19190172,19157724,19157621,19131562,19124503,19115622,19096130,19074885,19064572,19058336,19012698,18992148,18990750,18936436,18801337,18798003,18798002,18773092,18769766,18726416,18715838,18713495,18698632,18676680,18663376,18645668,18642288,18636124,18628434,18569591,18569587,18569579,18550589,18544910,18510611,18507060,18497573,18473182,18472009,18466102,18460770,18423013,18420361,18418580,2587619,1778977,1719479,14499622,19913121,20529763,20554493,20556843,20598484,20602615,20628086,20634891,20637790,20661821,20663217,20675267,20819434,15039299,15680923,16385451,16401082,18356043,18446064,18818195,19170196,19484729,19625176,19651758,19655364,19686770,19692168,19706845,19751749,19761367,19786980,19789190,19805575,19822571,19826048,19860798,19874574,19887496,19891553,19927646,19948975,19956635,19958676,19963114,19963139,20026093,20029944,20093049,20095411,20100563,20100738,20101753,20102722,20117323,20131310,20169287,20171022,20173083,20180013,20195803,20364586,20392357,20394984,20401433,20404016,20426969,20437058,20453000,20511665,20031389,20576306,20932821,20939108,20941486,20957336,20958328,20969746,21072184,21076874,20715111,20406102 1626305,1626302,2313683,2313687,2313688,2313685,2313684,2313686,1626307,4892076 1571 NG_008383,AL161645,CH471211,D10014,D50111,DQ515958,J02843,AF084225,AF182276,AJ853939,AJ853940,AJ877238,AK290822,BC067433,BC067435,BX951478,CR592801,CR603555,CR618024,CR621945,NM_000773,CR622294,CR626742,CR626746,DQ149222,J02625,S77873 NP_000764,CAH70047,EAW61357,EAW61358,BAA00902,BAA08796,ABF47105,AAA52155,AAD13753,AAF13601,CAH69381,CAH69382,CAI47002,BAF83511,AAH67433,AAH67435,AAZ77710,AAA35743,AAD14267,P05181,Q16868,Q3YA63,Q4LBD0,Q573G9,Q573H0,Q59EW1,Q6LER5,Q6NWT7,Q6NWT9 Hs.12907 CPE1|CYP2E|P450-J|P450C2E 4-nitrophenol 2-hydroxylase|CYPIIE1|cytochrome P450 2E1|cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1|cytochrome P450-J|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 1351527 CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq] 1580863 20198857,1974816,19343046,17943660,17327131,16883522,15128046,12598524,12477932,11827709,10383923,9539103,8619884,8587134,8432525,2045106 1572 NM_000774,NG_000008,NG_007930,AC008962,AF372573,CH471126,AK298082,AK316498,BC109056,BC109057,J02906 NP_000765,AAL69652,EAW57017,EAW57018,BAG60369,BAH14869,AAI09057,AAA52156,P24903,Q32MN5 Hs.558318 C2F1|CYP2F|MGC126121 CYPIIF1|cytochrome P450 2F1|cytochrome P450, subfamily IIF, polypeptide 1|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 1350226 CYP2F1P cytochrome P450, family 2, subfamily F, polypeptide 1 pseudogene 1300428 11827709,11692077 1300428 171427 NG_000008,AC008537,AF372495,AF372496,AF372497 pseudo 1347954 CYP2G1P cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene 18085818,14702039,11186129,8561797 22952 NG_000008,AC008537,AF274763,AF274764,AF274765,AF274766,AF274767,S80997 AAB35962,Q16411,Q6ZSU1 CYP2G1|CYP2G2P|CYP2GP1 pseudo 1342578 CYP2G2P cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene 15128046,11692077,11186129 83757 NG_000008,AC008962,AF274755,AF274756,AF274758,AF274759,AF274760,AF274761,AF274762 CYP2G2|CYP2GP2 pseudo 1354467 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. [provided by RefSeq] 1625384,1625377,1625385,1625379,1580863,1625380,1625381 19448409,19550113,19576320,19578796,19615687,19823578,19851119,19923256,20173083,20379614,20480811,17162467,17126841,16957870,16842392,16202848,16182271,16008525,15864120,15861034,15489334,15466638,15361551,15256482,15128046,14702039,14575523,12737630,12477932,12386130,11901223,10828211,10681399,10405341,10065373,9570962,9187259,9048644,8913342,8631948,19420105,19290787,19105833,18769365,18729130,18675280,18496133,18303964,18219097,18216721,18004755,17979511,17705402,17638876,17475630,17470359,17429317,17327508,17286575,19913121,20140850,20628086,20597138 1625384,1625377,1625385,1625379,1625380,1625381 1573 CR614399,CR623325,U37143,NG_007931,AC113175,AF039089,AF272142,AY426985,CH471059,AB080265,AF144566,AK055088,AK315387,BC032594,CR596384,CR600649,CR614246,NM_000775 AAC50370,P51589,Q8TF13,Q96RX4,Q9UN91,ABM81788,ABM84943,NP_000766,AAK63192,AAM44456,AAQ93356,EAX06611,EAX06612,EAX06613,EAX06614,BAB85489,AAD30164,BAG37780,AAH32594 Hs.152096 CPJ2 CYPIIJ2|arachidonic acid epoxygenase|cytochrome P450 2J2|cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2|flavoprotein-linked monooxygenase|microsomal monooxygenase protein-coding 1348432 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq] 2315692,1580863 15583024,15951480,20809279,18511070,18476984,17607662,17223345,16600026,15489334,15465040,15128933,15128046,14702039,12867411,12477932,12464240,20654748,19783860,19852851,20007432,20418485,20541252 2315692 120227 NM_024514,NG_007936,AC090835,AY800276,CH471064,AK092584,AW138676,AY323817,BC052580,BC104907,BC104909,BC111070,CR600246 NP_078790,AAV65814,EAW68470,EAW68471,EAW68472,EAW68473,AAQ23114,AAI04908,AAI04910,Q6VVX0 Hs.371427 MGC4663 cytochrome P450 2R1|cytochrome P450, family 2, R1|vitamin D 25-hydroxylase protein-coding 1314487 CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq] 1580863 19343046,17529885,17495422,17280660,17277313,15489334,15450424,15128046,14702039,12975309,12721789,12711469,12477932,11181079,7566098,19368491,19713358 29785 NM_030622,NG_000008,NG_007933,AC011510,CH471126,AA316622,AF335278,AK027605,AK296087,AY358603,BC033691,BX422464 NP_085125,EAW57019,EAW57020,EAW57021,AAK13498,BAB55227,BAG58842,AAQ88966,AAH33691,Q96SQ9,ABM84289,ABM87680 Hs.98370 CYPIIS1|cytochrome P450 2S1|cytochrome P450 family member predicted from ESTs|cytochrome P450, subfamily IIS, polypeptide 1|cytochrome P540, subfamily IIS, polypeptide 1 protein-coding 1342679 CYP2T2P cytochrome P450, family 2, subfamily T, polypeptide 2 pseudogene 20210993,11692077 171523 NG_000008,AC008537 pseudo 1351125 CYP2T3P cytochrome P450, family 2, subfamily T, polypeptide 3 pseudogene 11692077 163007 NG_000008,AC008962 pseudo 1319774 CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq] 1580863 15588491,15128046,14975754,14660610,12477932,12107412,20630735,20332099 113612 NM_183075,NG_007961,AC096564,AC114733,CH471057,AK026498,AK290002,AK298989,AK303284,AK304724,AY343323,BC012027,BC132767,BC136483,BC144148,BU838483,BX354124,BX437421,CD672608 NP_898898,EAX06215,EAX06216,EAX06217,BAF82691,BAG61081,BAG64362,BAG65487,AAQ21380,AAH12027,AAI32768,AAI36484,Q7Z449,ADR83373 Hs.109087 P450TEC OTTHUMP00000219687|cytochrome P450 2U1 protein-coding 1313076 CYP2W1 cytochrome P450, family 2, subfamily W, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq] 1580863 16677611,20805301,17998294,17979506,16426568,15489334,15128046,12477932,20602611 54905 NM_017781,NG_007934,AC073957,CH236965,CH471144,AK000366,BC025761,CR599457 NP_060251,EAW87186,EAW87187,BAA91114,AAH25761,Q8TAV3 Hs.272795 MGC34287 CYPIIW1|cytochrome P450 2W1 protein-coding 1316685 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. [provided by RefSeq] 1580863 10748047,15489334,15128046,12477932,11329013,19553612,20453000 51302 NM_016593,NG_007962,AL035670,AL591242,CH471081,AF237982,AK292263,AK307986,BC010358,BC012548,BC034323,BG199773,AK301604 NP_057677,CAI20276,CAH73899,EAX04297,AAF63329,BAF84952,AAH10358,Q9NYL5,ABM83815,ABW03520,BAH13522 Hs.387367 24-hydroxycholesterol 7-alpha-hydroxylase|cytochrome P450 39A1|cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1|hCYP39A1|oxysterol 7-alpha-hydroxylase|oxysterol 7alpha-hydroxylase protein-coding 68958 CYP3A cytochrome P450, subfamily IIA (niphedipine oxidase) 1574 AF280107 1352962 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 This gene, CYP3A4, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs which are are used today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. [provided by RefSeq] 1580863,2316977,2316509 16324277,20118548,15327587,15365656,15680923,16401082,18669585,19406954,19451401,19460945,19480557,19538885,19546880,19560436,19571438,19574343,19575027,19576320,19626470,19636001,19651758,19659438,19667110,19692168,19696793,19712670,19752211,19761365,19762492,19773538,19784640,19797609,19802823,19812066,19823875,19833260,19842932,19846565,19865079,19907160,19921206,19926050,19934400,19934793,19937844,19956635,19963139,20007670,20012430,20017669,20027111,20031551,20038391,20068078,20088394,20136364,20147837,20147896,20171174,20173083,20212519,20213484,20214802,20218903,20235787,20338069,20350136,20354687,20361990,20386561,20389299,20395213,20403997,20437850,20453000,20459744,20490798,20505544,20523106,20526235,19591893,20538721,20849814,20879989,20642445,20812728,19727863,2492107,3460094,15256616,3259858,15546903,19219744,12493773,18446064,19506580,19505920,19474452,19470925,19453261,19433561,19424794,19420105,19414505,19395426,19376514,19356113,19350405,19349540,19343327,19343062,19343046,19339270,19337788,19332043,19282874,19258929,19242060,19239339,19232333,19228751,19228205,19225447,19214745,19206087,19143748,19127255,19103148,19077426,19076156,19074750,16109480,16103451,16079101,16059671,16006997,16004554,15981231,15932952,15931768,15901749,15900284,15900215,15896485,15882469,15820320,15817670,15801936,15778453,15770075,15770073,15731117,15713537,15708542,15708356,15707415,15698606,15684873,16130011,15650881,15634941,15622315,15618745,15611481,15592326,15548719,15540736,15523087,15496639,15496535,15475069,15469410,15462611,15459178,15454728,15379787,15370963,15334674,15307840,15277015,15260917,15258162,15128046,15114431,14742674,14697480,14693733,17007050,16985250,16981844,16954191,16924387,16909599,16906020,16890579,16890574,16862439,16842392,16771603,16765145,16758258,16711396,16684709,16645157,16633141,16608838,16580902,16538176,16507515,16467307,16434211,16414488,16338276,16321621,16314882,16306861,16299241,16267764,16243813,16207150,16172230,16146556,19070657,19064572,19027952,19020497,19005401,18996102,18989234,18981011,18981009,18979093,18978522,18957504,18936436,18854779,18825162,18794335,18784074,18781853,18768784,18704002,18688081,18636247,18632753,18619574,18569587,18566991,18551040,18528690,18518855,18509327,18496131,18433425,18431572,18408564,18394438,18385010,18382661,18356043,18348473,18332045,18309947,18294936,18294295,18268015,18258609,18240903,18231117,18223457,18217151,18211048,18192894,18163429,18097620,18092806,18058330,18052847,18028890,18021343,18004210,18004209,17992531,17985934,17974099,17965521,17952011,17925548,17925385,17922881,17919884,17919092,17918187,17912464,17900275,17880367,17854673,17827444,17827338,17766366,17764444,17724065,17704997,17701008,17697139,17691855,17635182,17634410,17624028,17622974,17615053,17609736,17605821,17601520,17582393,17555301,17548691,17548528,17545536,17526937,17526062,17502835,17498886,17495880,17495878,17495874,17465708,17460547,17460031,17434921,17433262,17429319,17418993,17409981,17392393,17373732,17372239,17367411,17364054,17363580,17357589,17352764,17296590,17279585,17270371,17224914,17220347,17200113,17178267,17162468,17119944,17118447,17083953,17065585,17047492,17042920,17015051,17014074,14681232,14660173,14643022,14640293,14580164,14515059,14515058,14504207,12975335,12969965,12966368,12960109,12900872,12900870,12867495,12809821,12747609,12738724,12732844,12695546,12692107,12690205,12644831,12623762,12569554,12532467,12485945,12477932,12464248,12446983,12439220,12419838,12202670,12151999,12147248,12142725,12130689,12107441,12072427,11991950,11956645,11940601,11907494,11890939,11876753,11875366,11809184,11782366,11749050,11745731,11726664,11714865,11549683,11470997,11266076,11181494,11161840,11137287,11067821,11051261,10933049,10668853,10322772,10222036,9890157,9456308,9088578,8269949,3898085,3464943,3267210,3243766,2463251,1391968,12756206,15319333,15039299,9394023,12756210,14690448,19801957,19913121,20529763,20530282,20578904,20588308,20602612,20602615,20621111,20625352,20628086,20630055,20634197,20654748,20679960,20682687,20685352,20715157,18364084,20538049,20617557,20350051,20734064,20809279,20833683,20861742,20884258,20931330,20959500,20970553,21047202,21063236,21071160,21072155,21072184,21081028 2316977,2316509 1576 NM_017460,NG_008421,NG_000004,AC069294,AF209389,AF280107,AF307089,CH236956,CH471091,D11131,DQ005611,AF182273,AJ563375,AJ563376,AJ563377,AK298451,AK298462,AK312967,AY606313,BC069352,BC069418,BC101631,D00003,DQ924960,J04449,M13785,M14096,M18907,X12387 NP_059488,AAF21034,AAG32290,AAG53948,EAL23866,EAW76635,EAW76636,AAY16980,AAF13598,CAD91343,CAD91645,CAD91345,BAG60667,BAG60675,BAG35806,AAH69418,AAI01632,BAA00001,ABI96208,AAA35747,AAA35742,AAA35744,AAA35745,CAA30944,P08684,Q6GRK0,Q7Z448,Q86SK2,Q86SK3,Q9BZM0 Hs.111944 CP33|CP34|CYP3A|CYP3A3|HLP|MGC126680|NF-25|P450C3|P450PCN1 CYPIIIA3|CYPIIIA4|P450-III, steroid inducible|albendazole monooxygenase|albendazole sulfoxidase|cytochrome P450 3A3|cytochrome P450 3A4|cytochrome P450 HLp|cytochrome P450 NF-25|cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 3|cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4|cytochrome P450-PCN1|glucocorticoid-inducible P450|nifedipine oxidase|quinine 3-monooxygenase|taurochenodeoxycholate 6-alpha-hydroxylase protein-coding 1350489 CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme has a low level of testosterone hydroxylase activity. Although it bears homology to some drug-metabolizing cytochrome P450s, it is unknown whether the enzyme is also involved in xenobiotic metabolism. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq] 1580863 19343046,18566991,16848237,16314882,15894682,15548719,15128046,14759258,14695544,12853948,12477932,11726664,11266076,11243885,11160876,11137287,9890157,20529763,19789190,21081028 64816 NM_022820,NM_057095,NM_057096,NG_000004,NG_007935,AC011904,AF280107,CH236956,CH471091,AA417369,AF280108,AF280109,AF280110,AF280111,AF280112,AF280113,AF319634,AF337813,AJ563376,AJ563378,AJ563379,AY390423,AY390424,AY390425,AY390426,BC100981,BC100982 NP_073731,NP_476436,NP_476437,AAS07394,AAS07395,AAG32291,EAW76630,EAW76631,EAW76632,EAW76633,EAW76634,AAG33009,AAG33010,AAG33011,AAG33012,AAG33013,AAG33014,AAK00325,AAK38841,CAD91644,CAD91646,CAD91648,AAQ92351,AAQ92352,AAQ92353,AAQ92354,AAI00982,AAI00983,Q495Y0,Q495Y1,Q75MK2,Q75MK3,Q7Z2G5,Q9HB50,Q9HB51,Q9HB55 Hs.306220,Hs.695915,Hs.111944 MGC119315|MGC119316 OTTHUMP00000209989|cytochrome P450 3A43|cytochrome P450 polypeptide 43|cytochrome P450, subfamily IIIA, polypeptide 43 protein-coding 1348646 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 This gene,CYP3A5, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. The enzyme metabolizes drugs such as nifedipine and cyclosporine as well as the steroid hormones testosterone, progesterone and androstenedione. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. This cluster includes a pseudogene, CYP3A5P1, which is very similar to CYP3A5. This similarity has caused some difficulty in determining whether cloned sequences represent the gene or the pseudogene. [provided by RefSeq] 1580863 20118548,18315894,18315786,18309947,18306354,18300941,18294295,18248681,18240903,18223457,18221820,18214455,18212618,18211618,18192894,18058330,18028890,18024866,18021343,17992026,17979523,17979504,17941052,17925548,17922881,17914095,17900275,17885626,17875118,17851225,17827141,17761709,17701008,17700595,17691921,2732228,19523815,19516253,19506580,19474452,19470925,19424794,19414633,19414505,19384264,19384171,19376514,19376366,19350405,19349540,19343327,19343046,19337788,19332043,19290795,19290787,19289993,19258929,19239339,19229255,19228751,19228205,19225447,19205682,19141860,19139162,19125240,19114346,19106084,19106083,19076156,19074750,19067682,19064572,19040121,19034006,19033450,19010156,19005461,19005401,18996102,18989234,18981009,18979093,18978522,18936931,18930278,18752284,18727922,18708991,18704002,18688081,18650247,18641551,18636247,18628519,18603015,18597650,18589174,18587567,18582803,18566991,18551040,18518855,18509645,18509328,18509327,18502461,18496131,18496128,18490434,18443548,18429967,18414696,18408564,18394438,18385991,18385010,18382661,18334918,18322448,18319058,17635182,17635181,17635176,17615053,17605821,17582393,17568575,17554244,17545536,17517050,17510208,17502835,17495881,17495880,17460031,17450472,17443134,17430486,17425754,17395652,17391324,17377957,17373732,17372036,17363580,17358097,17352764,17339868,17329995,17296590,17286792,17264302,17244352,17224914,17198275,17192769,17192506,17178267,17178265,17162466,17049128,17049058,17048977,17047492,17042920,17032130,17015051,16906020,16906018,16847425,16842392,16827636,16822233,16815317,16791115,16772608,16771603,16769602,16765147,16765145,16684709,16638864,16628701,16614106,16612333,16612255,16595916,16584389,16513443,16442753,16424824,16421475,16361630,16338276,16321621,16314882,16306861,16299241,16272955,16272171,16267764,16253141,16249748,16243813,16207150,16188140,16172230,16168193,16160620,16141800,16116487,16086282,16024008,16004554,15981231,15978331,15961978,15952872,15931768,15919447,15900284,15900215,15882469,15876487,15833928,15814280,15808586,15801936,15729180,15708542,15707415,15698606,15634941,15632378,15622315,15596575,15596297,15592326,15548719,15502717,15489334,15469410,15454734,15385835,15289787,15284534,15252010,15248218,15226679,15167702,15128046,15116055,15114431,14961555,14747421,14676821,14647405,14515059,14515058,14504207,12975492,12969965,12966368,12960109,12893984,12853948,12822676,12814460,12756511,12754175,12694732,12692107,12690205,12477932,12439220,12433824,12324482,12242601,12202670,12042671,11809184,11740341,11726664,11502729,11279519,11266076,11137287,10403825,10069460,9890157,9797707,9373149,9364212,9070608,8946469,8877031,8869826,8694864,8619884,8619878,11836601,8569713,8125298,8004129,7895614,7894497,7883227,7811260,7750548,2802615,15319333,19801957,19913121,20529763,20530282,20588203,20596503,20602615,20621111,20625352,20628086,20630055,20662624,20679960,20685352,20696882,20716514,20720558,20818295,14702039,15039299,19538885,19545678,19546880,19576320,19584153,19591893,19593168,19636001,19644155,19650988,19659438,19663817,19667110,19693007,19696793,19710077,19730841,19744012,19761365,19762492,19769534,19812606,19817997,19823770,19842932,19855314,19865079,19881258,19904021,19907160,19916993,19925383,19934793,19946748,20010459,20017669,20030680,20031551,20038391,20040338,20041908,20136364,20147896,20160155,20172323,20173083,20179710,20207952,20212519,20214802,20218903,20231858,20235787,20332423,20345875,20354687,20357698,20368718,20383212,20389299,20393454,20395213,20403997,20415563,20430047,20453000,20459744,20479955,20490798,20514078,20526235,8889549,20617557,20133509,20565970,20833683,20860463,20873239,20881953,20931330,20959405,20959500,20970553,20970601,20970628,20970643,21039054,21047202,21072155,21072184,21076384,21081028 1577 NM_001190484,NR_033807,NM_000777,NG_000004,NG_007938,AC005020,AF280107,AF355803,CH236956,CH471091,DQ680079,L35912,AF355801,AJ563378,AJ563379,AK223008,AK296205,AK299002,AK309166,AK313813,BC022298,BC025176,BC026255,BC033862,BX537676,CR606644,CR611286,CR620792,J04813,L26985,AA076026,AK055879,BX648856,NR_033808,NR_033809,NR_033810,NR_033811,NR_033812,X90579 NP_001177413,NP_000768,AAS02016,AAG32288,AAK73691,EAL23868,EAW76638,EAW76639,EAW76640,EAW76641,EAW76642,ABG25922,AAB00083,AAK73689,CAD91347,CAD91647,CAD91649,BAD96728,BAH12282,BAH12923,BAG36549,AAH33862,CAD97807,AAA02993,P20815,Q14V85,Q53GC3,Q7Z3N0,Q7Z446,Q7Z447,Q86SK1,Q96RK6,Q96RK8,ABM81669,ABM84839,ABM87801,ABW03289 Hs.695915 CP35|CYPIIIA5|DKFZp686L16231|FLJ31317|P450PCN3|P450PCN3.|PCN3 CYPIIIA5|aryl hydrocarbon hydroxylase|cytochrome P-450|cytochrome P450 3A5|cytochrome P450 HLp2|cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5|cytochrome P450-PCN3|flavoprotein-linked monooxygenase|microsomal monooxygenase|niphedipine oxidase|xenobiotic monooxygenase protein-coding 1344932 CYP3A5P1 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1 19384171,17450472,16314882,15937338,12060534,11137287,8569713,7893755,7811260,20679960,20519697 1578 AC005020,AC069294,NG_000004,AF280107,AF315320,CH236956,L35912 CYP3AP1 pseudo 1342602 CYP3A5P2 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2 16314882,11266076,11137287 79424 NG_000004,AC069294,AF280107,CH236956 pseudo 1346597 CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 This gene, CYP3A7, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. The enzyme also metabolizes some drugs such as aflatoxin B1. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Transcript variants have been described, but it is not known whether these transcripts are normally produced. [provided by RefSeq] 1580863 20118548,19170196,19585271,19593168,19625176,19692168,19842932,20147896,20345875,9644715,2722762,19424794,19343046,19064572,18978522,18676680,18445661,17885626,17604264,17582393,17559345,17334880,16314882,16041241,15985487,15937338,15489334,15128046,12865317,12690205,12485945,12477932,11940601,11266076,11137287,11093772,10950848,9890157,8694864,7894497,2786707,2492179,1562592,15319333,19801957,20529763,20621111,20634891 1551 BX643367,NM_000765,NG_000004,NG_007983,AC069294,AF280107,AF315322,CH236956,CH471091,AF315325,BC067436,BC069780,BX647143,D00408 NP_000756,AAG32289,AAG48617,EAL23867,EAW76637,AAG48618,AAH67436,BAA00310,P24462,Q6KGV3,Q9H241 Hs.111944 CP37|P450-HFLA CYPIIIA7|OTTHUMP00000210473|aryl hydrocarbon hydroxylase|cytochrome P450 3A7|cytochrome P450, subfamily IIIA, polypeptide 7|cytochrome P450-HFLA|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase protein-coding 1315314 CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq] 1358575,1580863 20535486,20682755,10377398,19363267,19286353,19212968,19161969,19059217,18842294,18621681,18511756,17854420,17550732,17335784,16960449,16734927,16258842,16157450,16055229,16013913,15975088,15936520,15489334,15450677,15331159,15286456,15172102,15165699,15128046,15106838,15034781,14702039,14640697,12533085,12533083,12477932,12232784,12123847,11698143,11111082,9717719,19553612,19647891,20193040,20667828 1358575 10858 NM_006668,NG_007963,AL136000,AL160313,CH471061,AB209749,AF094480,AK090886,AK295216,BC022539 NP_006659,EAW81678,BAD92986,AAD41244,BAC03539,BAG58210,AAH22539,Q59ER2,Q8N2B0,Q9Y6A2 Hs.25121 CP46|CYP46 CH24H|cholesterol 24-hydroxylase|cytochrome P450 46A1|cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) protein-coding 730831 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. [provided by RefSeq] 1580863,1625451,1625567 7679927,8914854,8274222,19615687,19366684,19343046,18936345,18660489,18574070,18484194,18391101,18385420,18300855,18227405,16957555,16144986,15611369,15128046,15028279,12477932,12464262,12464261,11821421,11736898,11139583,10860550,10660572,10024026,9618440,8363569,1739747,15319333,7798189,18433732,19898482,20130494 1625451,1625567 1579 X71480,NG_007932,AF208532,AF525488,AL731892,AY369778,AK298267,AK298413,BC022851,BC041158,NM_000778,CD014132,D13705,D26481,L04751,S67580,S67581 CAA50586,Q02928,Q16802,NP_000769,AAF76722,AAO16078,CAH72778,CAH72779,AAQ56847,BAG60530,BAG60640,AAH41158,BAA02864,BAA05491,AAA58436,AAB29502,AAB29503 Hs.1645,Hs.726474 CP4Y|CYP4A2|CYP4AII 20-HETE synthase|20-hydroxyeicosatetraenoic acid synthase|CYPIVA11|OTTHUMP00000009715|P450HL-omega|alkane-1 monooxygenase|cytochrome P-450HK-omega|cytochrome P450 4A11|cytochrome P450, subfamily IVA, polypeptide 11|cytochrome P450HL-omega|fatty acid omega-hydroxylase|lauric acid omega-hydroxylase protein-coding 1603864 CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq] 15611369,15128046,12477932,12464262,20079672 284541 NM_001010969,NG_007937,AL135960,AY280371,AY280372,BC142607,BC142690,BC148248 NP_001010969,CAI19736,CAI19737,CAI19738,AAQ21367,AAQ21368,AAI42608,AAI42691,AAI48249,Q5TCH4 Hs.726474 CYPIVA22|OTTHUMP00000009561|cytochrome P450 4A22|cytochrome P450 4A22K|fatty acid omega-hydroxylase|lauric acid omega-hydroxylase protein-coding 736540 CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Two transcript variants encoding slightly different isoforms have been found for this gene. [provided by RefSeq] 1626420,1300048,1580863 15006160,19898482,20379614,2574990,19343046,19074885,19040121,18713828,18660489,16344560,15499177,15128046,12837283,12477932,12142726,11767004,11737226,11669629,11062028,10768437,9498238,9493761,9373149,9364212,9202751,8889548,8694864,8313365,8125298,7894498,2298205,19913121,20628086 1626420 1580 NM_001099772,NM_000779,NG_007939,AL356793,AL593856,CH471059,DQ518907,AF491285,AK225576,AK225578,AK300921,AK300941,AK307715,AK313170,AY064484,AY064485,AY064486,AY151048,AY151049,BC017758,BM977596,DA380788,J02871,X16699 NP_001093242,NP_000770,CAI22557,CAI22558,CAI22559,CAI16981,CAI16982,CAI16983,EAX06888,EAX06889,EAX06890,EAX06891,ABF47106,AAM09532,BAG62553,BAG62570,AAL57719,AAL57720,AAL57721,AAN72311,AAN72312,AAH17758,AAA35712,CAA34672,P13584,Q8IZB0,Q8WWV1,ABM82936,ABM86125 Hs.436317 CYPIVB1|P-450HP cytochrome P450 4B1|cytochrome P450, subfamily IVB, polypeptide 1|cytochrome P450-HP|cytochrome p450, subfamily 4b, polypeptide 1|microsomal monooxygenase protein-coding 1349925 CYP4F11 cytochrome P450, family 4, subfamily F, polypeptide 11 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19812349,20379614,8889548,10964514,18065749,15489334,15128046,15057824,14702039,12477932,9068972,20689807 57834 NM_021187,NM_001128932,NG_008335,AC005336,AC011517,AC020950,CH471106,AF236085,AK125714,AK289424,AK309292,AL833940,BC016853,BM727421,BU180723,DC345817 NP_067010,NP_001122404,AAC27731,EAW84511,EAW84512,EAW84513,EAW84514,EAW84515,AAG15889,BAF82113,CAD38795,AAH16853,Q8N3P5,Q9HBI6,ABM82393,ABM85576 Hs.187393 CYPIVF11 cytochrome P450 4F11|cytochrome P450, subfamily IVF, polypeptide 11 protein-coding 1351749 CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid; however, its physiological function has not been determined. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. [provided by RefSeq] 1580863 18065749,16344560,16303743,16112640,15128046,14702039,12975309,12477932,11162645,11162607,9068972,1116264 66002 NM_023944,NG_008336,AC004523,AC122702,CH471106,AB035130,AB035131,AK074412,AK075435,AK304138,AK304389,AL832171,AY008841,AY358977,BC034916,BC035350,DB221158 NP_076433,AAC11543,EAW84492,EAW84493,EAW84494,EAW84495,EAW84496,EAW84497,EAW84498,EAW84499,EAW84500,EAW84501,BAB18269,BAB18270,BAG52137,BAG65032,BAG65224,CAI46131,AAG33247,AAQ89336,AAH35350,Q5JPJ7,Q8IV39,Q9HCS2,ABM81736,ABM84891 F22329_1 CYPIVF12|cytochrome P450 4F12|cytochrome P450, subfamily IVF, polypeptide 12 protein-coding 1347352 CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq] 70707,1580863 8026587,17474147,19578179,19545555,19343046,19300499,19297519,19279555,19270263,19207028,19097922,18971550,18787519,18662666,18574070,18391101,18250228,18235092,18065749,17341693,17284776,17142457,16733892,15489334,15128046,15057824,12736711,12477932,11715494,11162441,10860554,10660572,10492403,9618440,9068972,8424651,20861217,18433732,19741565,19794411,19957603,19958090,20072124,20130494,20149073,20182420,20227456,20421126,20442691,20499136,20504253,9799565,19913121,20553802,20555338,20628086,20653676,20833655,21063236,21084764 70707 8529 NG_007971,AB015306,AC004791,AC005336,AF221943,AF467894,CH471106,AK290790,AK296200,AK300961,AK313705,BC067437,BC067438,BC067439,BC067440,D26480,NM_001082,U02388 BAA05490,NP_001073,BAA75823,AAC27730,AAF86378,AAL67578,EAW84508,EAW84509,EAW84510,BAF83479,BAG58928,BAG62587,AAH67437,AAH67439,AAH67440,AAC50052,P78329 Hs.558423 CPF2 CYPIVF2|cytochrome P450 4F2|cytochrome P450, subfamily IVF, polypeptide 2|cytochrome P450-LTB-omega|leukotriene B4 omega-hydroxylase|leukotriene-B(4) 20-monooxygenase 1|leukotriene-B(4) omega-hydroxylase 1|leukotriene-B4 20-monooxygenase protein-coding 1606166 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq] 18245815,16436457,16344560,15128046,12477932,10712205 126410 NM_173483,NG_007987,AC011492,CH471106,AI341068,AK096820,BC069351,BC093894,BC093896,DA874258 NP_775754,EAW84484,BAC04868,AAH69351,AAH93894,AAH93896,Q6NT55 Hs.156452 FLJ39501|LI3 cytochrome P450 4F22|cytochrome P450, family 2, subfamily E, polypeptide 2 homolog protein-coding 1349362 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. [provided by RefSeq] 1580863 8486631,19343046,19138970,18577768,18065749,17980168,16380383,15128046,14715252,12709424,11461919,10409674,9539102,9068972,8026587,12477932,18566475,20047521,20237496,16344560 4051 NM_000896,NG_007964,AB002461,AD000685,AY792513,CH471106,AB002454,AF054821,AK296761,AK296802,AK298675,AK303477,AK304200,AK316136,BC136299,D12620,D12621,DB184202,NM_001199208,NM_001199209 NP_000887,BAA25991,AAV40834,EAW84488,EAW84489,EAW84490,EAW84491,BAA25990,AAC08589,BAH12428,BAH12435,BAH12844,BAH13972,BAH14129,BAH14507,AAI36300,BAA02144,BAA02145,Q08477,NP_001186137,NP_001186138 Hs.106242 CPF3|CYP4F|LTB4H CYPIVF3|cytochrome P-450|cytochrome P450 4F3|cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)|cytochrome P450-LTB-omega|leukotriene B4 omega hydroxylase|leukotriene-B(4) 20-monooxygenase 2|leukotriene-B(4) omega-hydroxylase 2|leukotriene-B4 20-monooxygenase protein-coding 1354190 CYP4F3LP cytochrome P450, family 4, subfamily F, polypeptide 3-like pseudogene 10830953 54055 NG_000927,AL109748,AL163204 C21orf15 pseudo 1353889 CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8 This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq] 1580863 10405341,17353931,19343046,16344560,16112640,15789615,15128046,14702039,12464258,11448449,10791960,9068972 11283 NM_007253,NG_008068,AC093072,AD000685,CH471106,AF133298,AI401776,AK096809,AK300478,AK300530,AK300539,AK314685,DA871128,DA877298,DB329701 NP_009184,EAW84486,EAW84487,AAD49566,BAG62194,BAG62241,BAG62247,BAG37237,P98187,AAI46323,AAI56577 Hs.268554 CPF8|CYPIVF8 cytochrome P450 4F8|cytochrome P450, subfamily IVF, polypeptide 8|flavoprotein-linked monooxygenase|microsomal monooxygenase protein-coding 1312886 CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq] 19583818,19661213,20205591,20379614,19278955,18349091,17962476,17249554,17013694,16186368,16179904,16088246,15860296,15489334,15128046,15042513,14702039,12975309,12477932,11001583,19508456 285440 NM_207352,NG_007965,AC110771,CH471056,FJ440682,AA918796,AK022114,AK122600,AK126473,BX648730,AK311390,AY358619,AY422002,BC035933,BC038095,BC041839,BC048253,BC060857,BX648537 NP_997235,EAX04624,ACK44069,BAC85487,BAC86562,AAQ88982,AAR31180,AAH41839,AAH60857,Q49AA5,Q6UWV9,Q6ZWL3 Hs.587231 BCD|CYP4AH1|FLJ18432|MGC43534 cytochrome P450 4V2 protein-coding 731278 CYP4X1 cytochrome P450, family 4, subfamily X, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. [provided by RefSeq] 625536,1580863 15797250,15489334,15128046,14702039,12975309,12477932,12176035 625536 260293 NM_178033,NG_007966,AL450996,CH471059,AK091806,AK098065,AK131355,AM040940,AY358537,BC028102 NP_828847,CAH71035,EAX06882,EAX06883,EAX06884,BAC03751,BAC05226,BAD18508,CAJ13826,AAQ88901,AAH28102,Q5VVE5,Q6ZN67,Q8N118,Q8NAZ3,ABM82581,ABM82582,ABM85769,ABW03738 Hs.439760 MGC40051 CYPIVX1|cytochrome P450 4X1|cytochrome p450 4x1 protein-coding 1354200 CYP4Z1 cytochrome P450, family 4, subfamily Z, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq] 1580863 19473719,19090726,15797250,15128046,15059886,12975309,9068972 199974 NM_178134,NG_007967,AL135960,AL450996,CH471059,AK292175,AY262056,AY358631 NP_835235,CAI19734,CAH71036,EAX06880,EAX06881,BAF84864,AAO89257,AAQ88994,Q86W10,AAI40383,AAI46467 Hs.176588 CYP4A20 CYPIVZ1|cytochrome P450 4Z1 protein-coding 2293116 CYP4Z2P cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene 15059886,14702039 163720 NR_002788,AL356793,AL731892,AK097373,AY262057,AY696295 BAC05026,AAU10524,Q8N1L4 Hs.591431 FLJ40054 pseudo 1345262 CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,2316868,2316857,2316902 8619637,18676367,18660489,16344560,15611056,15489334,15128046,14702039,12853948,12690205,12477932,12145339,11678326,8975714,8845856,8809088,8797093,8024575,12824470,20149798 2316868,2316857,2316902 1595 AK314205,BC018429,BC032322,D55653,DA349400,DC376300,U23942,NG_007968,NM_001146152,AC000120,CH236949,CH471091,U51684,U51685,U51686,U51687,U51688,U51689,U51690,U51691,U51692,AK295932,NM_000786 BAG58717,BAG36881,AAH18429,AAH32322,BAA09512,AAB39951,Q05D40,Q16850,ABM82237,ABM85421,NP_000777,NP_001139624,AAB46356,EAL24154,EAW76858,EAW76859,AAC50951 Hs.417077 CP51|CYP51|CYPL1|LDM|P450-14DM|P450L1 CYPLI|OTTHUMP00000208817|cytochrome P450 51A1|cytochrome P450, 51 (lanosterol 14-alpha-demethylase)|cytochrome P450-14DM|cytochrome P45014DM|cytochrome P450LI|lanosterol 14-alpha demethylase|lanosterol 14-alpha-demethylase|sterol 14-alpha demethylase protein-coding 2302453 CYP51P1 cytochrome P450, family 51, pseudogene 1 8809088 83528 AC107307,U36926,NG_001294 pseudo 2302452 CYP51P2 cytochrome P450, family 51, pseudogene 2 10978293,8809088 83530 NG_002766,AF196988,AF196989,AL359454,U40053 pseudo 69210 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. [provided by RefSeq] 1580863,1300048 20578904,20602615,20686565,19448895,19463968,19558216,19598235,19850125,19956635,19965590,20005541,20031551,20235787,20403997,2384150,19343046,19185005,19018779,18996102,18728290,18728123,18665040,18660489,18385139,18307386,18270374,18178499,18078817,17920062,17680536,16937432,16917677,16892178,16763159,16709249,16630139,16115473,15910869,15805302,15796896,15752749,15736936,15707388,15640003,15489334,15333704,15262185,15241483,15205472,15133863,15128046,14762172,14592954,14522988,14515446,12865425,12815072,12810154,12721789,12554795,12477932,12213890,12202481,12116231,12093894,12093884,12011083,11907135,11257258,10882719,10359768,9559267,8504159,8439551,8020987,7288293,1610352,1358792,1312351,19537927,20351063,20872969,20717043,21039385 1581 NM_000780,NG_007969,AC009927,CH471068,L04634,L13460,M89647,M89803,BC101777,BC112184,M93133,X56088 NP_000771,EAW86811,AAA61350,AAA58423,AAI01778,AAI12185,AAA58435,CAA39568,P22680 Hs.1644 CP7A|CYP7|CYPVII|MGC126826|MGC138389 cholesterol 7-alpha-hydroxylase|cholesterol 7-alpha-monooxygenase|cytochrome P450 7A1|cytochrome P450, subfamily VIIA polypeptide 1 protein-coding 735270 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. [provided by RefSeq] 1580863 10588945,9802883,19439420,19343046,19187859,18790053,18676680,18331353,18252231,18055760,17680536,17467270,16630558,15751070,15698543,15181079,15128046,15007371,15003524,14521990,12721789,12477932,9559267,7987300,19913121,20628086,18855023,19170196,19363635,19625176,19687010,19692168,19732851 9420 NM_004820,NG_008338,AC090136,AC104232,AC104939,AF127089,AF176805,CH471068,AF029403,AF127090,BC029155,BC136574 NP_004811,AAK11850,EAW86877,AAC95426,AAD20021,AAH29155,AAI36575,O75881,Q05C57 Hs.667720 CBAS3|CP7B|SPG5A 25-hydroxycholesterol 7-alpha-hydroxylase|cytochrome P450 7B1|cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1|cytochrome p450, subfamily 7b, polypeptide 1|oxysterol 7-alpha-hydroxylase|oxysterol 7alpha-hydroxylase protein-coding 736649 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq] 1300048,1580863 19898482,10051404,18660489,17585019,16937432,15891895,15489334,15249218,15128046,12477932,11535594 1582 NM_004391,NG_007970,AC099329,AF090320,CH471055,AF090318,AK310784,BC067434,BC067441,BC067442,BC067443,BC067444 NP_004382,AAD19877,EAW64682,AAC63037,AAH67434,AAH67441,AAH67442,AAH67444,Q9UNU6 Hs.722743,Hs.447793 CP8B|CYP12|FLJ17826 7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase|7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase|7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase|CYPVIIIB1|cytochrome P450 8B1|cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1|sterol 12-alpha-hydroxylase protein-coding 731720 CYR61 cysteine-rich, angiogenic inducer, 61 CYR61 is a secreted, cysteine-rich, heparin-binding protein encoded by a growth factor-inducible immediate-early gene. Acting as an extracellular, matrix-associated signaling molecule, CYR61 promotes the adhesion of endothelial cells through interaction with integrin and augments growth factor-induced DNA synthesis in the same cell type.[supplied by OMIM] 734995,1580863 9373149,20237132,20641097,9135077,19288017,19244129,19180570,19147534,19007976,18950845,18941464,18936953,18819928,18800188,18687805,18599605,18575751,18381294,18212329,18202125,18089610,18058471,18025257,18004727,17765657,17718860,17699553,17673559,17626014,17601910,17437852,17429007,17234971,17056474,16877350,16804865,16675545,16581771,16344560,16243794,15961723,15878827,15782120,15592521,15564459,15526358,15489334,15471875,15389821,15077166,15053922,15044605,15044484,15041728,14988385,14702039,12939282,12899698,12831056,12826661,12736251,12477932,12444554,12374462,12364323,12217894,12036876,11840342,11810026,11751417,11600415,11584015,11287419,11120741,10852911,10821835,10446209,9600969,9536281,9528960,9488038,9446626,8635876,8125298,17579708,19364818,19542562,19584265,19632997,19950293,20010302,20043874,20056838,20097175,20233866,20237496,20195466,20531301,20628624 734995 3491 AL832891,AC092807,AF307860,AY443495,CH471097,AF003114,AF003594,AF031385,AK096420,AK223385,AK295430,AK314571,NM_001554,BC009199,BC001271,BC016952,BP387218,CR536519,CR593662,CR595937,CR597890,CR603266,CR609236,CR622169,CR623495,CR623693,DA764894,U62015,Y11307,Y12084,Z50168,Z97068,Z98053 NP_001545,AAG59863,AAR05446,EAW73196,EAW73197,EAW73198,AAF21597,AAB61240,AAB84227,BAD97105,BAG58373,BAG37152,AAH09199,AAH01271,AAH16952,CAG38757,AAB58319,CAA72167,CAA72802,CAB09804,CAB10848,O00622,O95694,Q53FA4,Q6FI18,Q9UID7,ABM82188,ABM85375 Hs.8867 CCN1|GIG1|IGFBP10 CCN family member 1|IBP-10|IGF-binding protein 10|IGFBP-10|cysteine rich protein 61|cysteine-rich heparin-binding protein 61|cysteine-rich, anigogenic inducer, 61|insulin-like growth factor-binding protein 10|protein CYR61 protein-coding 1606435 CYS1 cystin 1 14702039,12733055,11854326 192668 NM_001037160,AC104794,CH471053,AF544983,AK091299,AW298291,BE907159,DB559824 NP_001032237,EAX00971,AAQ11748,Q717R9,AAI48589,AAI56922 Hs.27092,Hs.720471 FLJ33980 cilia-associated protein|cystin-1 protein-coding 732524 CYSLTR1 cysteinyl leukotriene receptor 1 The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR2. This encoded receptor is a member of the superfamily of G protein-coupled receptors. Activation of this receptor by LTD4 results in contraction and proliferation of smooth muscle, oedema, eosinophil migration and damage to the mucus layer in the lung. [provided by RefSeq] 1580863,734996,4784257,4847792,4843543,4848936,4781441,4781446,4889116,4843953,4847129,4888517,4781449,4846883,4847512,4848616,4888514,4888515,4781453,4781742,4782072,4888516,4889117,4781451,4848274,4783198,4888512 19913121,20462748,20628086,10391245,19524426,19454674,19450127,19258923,19214143,19131661,19080797,19064572,18829683,18651869,18571838,18379861,18366797,18323532,18305014,18028998,17941281,17924829,17909024,17883728,17703412,17641958,17558309,17549353,17460547,17406065,17392478,17153879,16846449,16809637,16776674,16771777,16630147,16293801,16210619,16123393,15772651,15705869,15696087,15590629,15489334,15064240,14749922,14702039,12859443,12751768,12751740,12743568,12682264,12512030,12477932,12373000,12100046,11696047,11438743,11322876,11141472,10462554,16754659,19733299,20003473,20503287,20433311 734996,4784257,4847792,4843543,4848936,4781441,4781446,4889116,4843953,4847129,4888517,4781449,4846883,4847512,4848616,4888514,4888515,4781453,4781742,4782072,4888516,4889117,4781451,4848274,4783198,4888512 10800 NM_006639,NG_012809,AL445202,AY242130,CH471104,AF119711,AF133266,AK023929,AK313643,BC035750,DQ131799,DQ131800,DQ131801,DQ131802,DQ131803 NP_006630,CAI40462,AAO92297,EAW98598,EAW98599,AAD42285,AAD42778,BAG36401,AAH35750,ABA01563,ABA01564,ABA01565,ABA01566,ABA01567,Q38Q88,Q38Q91,Q9Y271,ABM81873,ABW03343 Hs.201300 CYSLT1|CYSLT1R|CYSLTR|HG55|HMTMF81|MGC46139 G-protein coupled receptor HG55|LTD4 receptor|cysteinyl leukotriene D4 receptor|cysteinyl leukotriene receptor 1 protein-coding 1352313 CYSLTR2 cysteinyl leukotriene receptor 2 The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq] 1580863,4781445,4783198 19913121,20628086,15489334,15475736,15454733,15057823,14515063,13679572,12816881,12477932,12100046,12044878,11696047,11093801,10851239,1085123,16754659,20433311,10913337,19450127,19264973,19247692,19131661,18946233,18779380,18366797,18048362,17991613,17941281,17460547,17404310,16771777,16606835,15970796,15696087,15545522,19840403 4781445,4783198 57105 NM_020377,AB041644,AB083603,AF254664,AF279611,AL137118,AY389504,CH471075,CS251127,AB038269,AB041947,AK291739,AY853711,BC069160,BC096832,EF141523,EF141524,EF141525,EF141526,EF141527,EF141528,EF141529,EF141530 NP_065110,BAB16379,BAB89316,AAG17281,AAK69485,CAC29102,AAQ91330,EAX08802,CAJ58194,BAB03601,BAD83598,BAF84428,AAW47925,AAH69160,AAH96832,ABO61874,ABO61875,ABO61876,ABO61877,ABO61878,ABO61879,ABO61880,ABO61881,Q5KU17,Q9NS75 Hs.253706,Hs.614318 CYSLT2|CYSLT2R|GPCR|HG57|HPN321|KPG_011|PSEC0146|hGPCR21 G protein-coupled receptor|G-protein coupled receptor GPCR21|G-protein coupled receptor HG57|cysteinyl leukotriene CysLT2 receptor|cysteinyl leukotriene receptor 2 protein-coding 736054 CYTH1 cytohesin 1 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. The encoded protein is 83% homologous to that of CYTH2. [provided by RefSeq] 1580863 9050849,11867758,12606567,1511013,15778383,15489334,14702039,12477932,12052827,11438522,10835351,10772823,10748148,10652308,10341214,10212218,10092663,9756891,9693361,9653114,9110174,8706128,8619474,8449036,9765275,12920129,9614087,17398095,17321526,19346499,20018626 9267 NM_004762,NM_017456,AC022966,AC099804,AF125362,CH471099,AF054997,AK091369,AK123894,AK293894,AK296914,AK307917,AK316075,AK316277,BC038385,BC050452,M85169 NP_004753,NP_059430,AAF37737,AAF37738,EAW89530,EAW89531,EAW89532,BAH11620,BAG59469,BAH14446,BAH14648,AAH38385,AAH50452,AAA36602,Q15438,ACE87563,ACE86875 Hs.191215 B2-1|CYTOHESIN-1|D17S811E|FLJ34050|FLJ41900|PSCD1|SEC7 PH, SEC7 and coiled-coil domain-containing protein 1|SEC7 homolog B2-1|cytoadhesin 1|cytohesin-1|homolog of secretory protein SEC7|pleckstrin homology, Sec7 and coiled-coil domains 1|pleckstrin homology, Sec7 and coiled-coil domains 1(cytohesin 1)|pleckstrin homology, sec7 and coiled/coil domains 1 protein-coding 737071 CYTH2 cytohesin 2 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9417041,14654833,16415858,17474147,17623778,17398095,16484220,16189514,16027149,15489334,15277685,14702039,12920129,12641750,12477932,12438709,12052827,11850456,11533043,10806099,10801341,10748148,10708517,10652308,10531036,9925920,9550703,9510256,9476900,9050849,8945478,8706128,15778465,20936779,12606567,20016009,17786213,20153292,20525696 9266 NM_004228,AC008403,CH471177,AB209573,AK091443,AK292405,AK299590,BC004361,BC012771,BC035646,BC036615,NM_017457,BC038713,BC047631,CR591768,CR591823,CR593517,CR596472,CR598477,CR599552,CR600368,CR607678,CR608279,CR608702,CR610853,CR611270,CR612861,CR614084,CR616768,CR617009,CR621270,CR621404,CR623405,U70728,X99753,BC042153 NP_059431,NP_004219,EAW52349,EAW52350,EAW52351,BAD92810,BAF85094,BAG61522,AAH04361,ABM87855,AAB09591,CAA68084,Q59F87,Q99418,ABM83491,AAH38713 Hs.144011 ARNO|CTS18|CTS18.1|PSCD2|PSCD2L|SEC7L|Sec7p-L|Sec7p-like ARF exchange factor|ARF nucleotide-binding site opener|OTTHUMP00000196754|PH, SEC7 and coiled-coil domain-containing protein 2|cytohesin-2|pleckstrin homology, Sec7 and coiled-coil domains 2|pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2)|pleckstrin homology, Sec7 and coiled-coil domains 2-like|pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)|pleckstrin homology, sec7 and coiled/coil domains 2 protein-coding 1348510 CYTH3 cytohesin 3 This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq] 1580863 9707577,9742223,18084281,16189514,15878955,15489334,14702039,12853948,12690205,12477932,10828067,10652308,9072969,12920129,11445584,12606567,17398095 9265 NM_004227,AC004895,AC009412,AC092439,CH236963,CH878731,AJ005197,AJ223957,AK023609,AK295163,AK313728,BC008191,BC028717,BG620295,CB988199,CR594486,CR626246 NP_004218,AAS07510,EAL23717,EAW55046,CAA06434,CAA11686,BAH11995,BAG36470,AAH08191,AAH28717,O43739,Q75ML1,Q96HS5,ABM82662,ABM85838,ABW03411 Hs.487479 ARNO3|GRP1|PSCD3 ARF nucleotide-binding site opener 3|PH, SEC7 and coiled-coil domain-containing protein 3|cytohesin-3|general receptor of phosphoinositides 1|pleckstrin homology, Sec7 and coiled-coil domains 3|pleckstrin homology, Sec7 and coiled/coil domains 3 protein-coding 1345777 CYTH4 cytohesin 4 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with both ARF1 and ARF5 but is inactive with ARF6. The structures of this gene and CYTH1 are very similar. [provided by RefSeq] 1580863 10591208,8593609,12920129,10652308,18084281,15489334,15461802,15342556,15302935,14702039,12477932,20379614,17398095 27128 BP306826,CR456551,CR597077,CR604959,CR610000,CR626739,NM_013385,CH471095,Z94160,AF075458,AF125349,AK002145,AK024428,AK315052,BC017780,BC033693,BC041161,AK304453 CAG30437,Q8WWE8,Q9H7Q0,Q9NUL6,Q9UIA0,CAK54582,CAK54881,NP_037517,EAW60154,EAW60155,EAW60156,CAI22121,AAF15389,AAF28896,BAA92107,BAB15718,BAG37529,AAH17780,AAH41161,BAG65270 Hs.170944 CYT4|DJ63G5.1|PSCD4 PH, SEC7 and coiled-coil domain-containing protein 4|cytohesin-4|pleckstrin homology, Sec7 and coiled-coil domains 4|pleckstrin homology, Sec7 and coiled/coil domains 4 protein-coding 1317500 CYTIP cytohesin 1 interacting protein The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq] 1580863 18029348,20379614,11867758,12606567,17577583,16702224,16344560,15815621,15489334,18926288,20530790,12052827,10343115,8241278,12477932,17207965 9595 NM_004288,AC019201,CH471058,AF068836,AK301544,AK312753,BC036449,CD642163,CR594595,CR611736,DB219691,L06633 NP_004279,AAY14898,EAX11447,AAC19129,BAG63041,BAG35620,AAH36449,AAA16575,O60759,ADQ32297 Hs.270 B3-1|CASP|CYBR|CYTHIP|HE|PSCDBP cbp HE|cytohesin binder and regulator|cytohesin binding protein HE|cytohesin-1 interacting protein|cytohesin-associated scaffolding protein|cytohesin-binding protein HE|cytohesin-interacting protein|pleckstrin homology Sec7 and coiled-coil domains-binding protein|pleckstrin homology, Sec7 and coiled-coil domains, binding protein|pleckstrin homology, Sec7 and coiled/coil domains, binding protein protein-coding 1351161 CYTL1 cytokine-like 1 C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM] 737633 10857752,15489334,15340161,12975309,12477932 737633 54360 NM_018659,AC108139,CH471131,AF193766,AF274956,AY359101,BC031391,CR602076,CR620065,T83161,HA640597 NP_061129,EAW82418,AAF73372,AAK07531,AAQ89459,AAH31391,Q9BZT3,Q9NRR1,ABM81716,ABM81718,ABM84872,CAZ39552 Hs.13872 C17|C4orf4 OTTHUMP00000217283|cytokine-like protein 1|cytokine-like protein C17 protein-coding 1603682 CYTSA cytospin A 9205841,20936779,17081983,14702039,12477932,10508479 23384 NM_015330,NM_001145468,AP000354,AP000355,CH471095,AA773104,AB002374,AK025531,AK097129,AK301482,AL832425,AY884293,BC005093,BC013085,BC021132,BC041571,BC068611,BC136471 NP_056145,NP_001138940,EAW59656,EAW59657,BAA21574,BAH13494,CAH10609,AAX84184,AAI36472,Q59GT7,Q69YQ0 Hs.474384 CYTSA|KIAA0376|SPECC1L SPECC1-like protein|cytokinesis and spindle organization A|cytospin A|cytospin-A|renal carcinoma antigen NY-REN-22|sperm antigen with calponin homology and coiled-coil domains 1-like protein-coding 1606479 CYTSB cytospin B 15342556,15146197,15087372,14702039,12477932,20379614,15489334,18763323,17081983,15602574 92521 CR613965,NM_152904,NM_001033555,NM_001033554,AC004702,AC007963,AC008088,BK005598,CH471212,AB041533,AK295093,AK295811,AK298601,AK301318,AK304186,NM_001033553,AK314341,AY816326,AY816327,AY816328,AY816329,BC021123,BC033618,BC050058,BP287096,CN267630,CR623676 NP_001028725,NP_690868,NP_001028727,NP_001028726,DAA05629,DAA05630,DAA05631,DAA05632,EAW50914,EAW50915,EAW50916,EAW50917,EAW50918,EAW50919,EAW50920,EAW50921,BAB16440,BAG58132,BAG58629,BAG60786,BAG62869,BAG65066,AAW29999,AAW30000,AAW30001,AAW30002,AAH21123,AAH33618,AAH50058,Q5M775 Hs.431045 CYTSB|FLJ36955|HCMOGT-1|NSP|SPECC1 NSP5|OTTHUMP00000065842|OTTHUMP00000065844|cytokinesis and spindle organization B|cytospin B|cytospin-B|nuclear structure protein 5|sperm antigen HCMOGT 1|sperm antigen HCMOGT-1|sperm antigen with calponin homology and coiled coil domains 1|sperm antigen with calponin homology and coiled-coil domains 1|sperm antigen with calponin-like and coiled coil domains 1|structure protein NSP5a3a|structure protein NSP5a3b|structure protein NSP5b3a|structure protein NSP5b3b protein-coding 1354035 CYYR1 cysteine/tyrosine-rich 1 1580863 17442112,15489334,14702039,12477932,12062809,12036297,10830953,9373149,8125298 116159 NM_052954,AP001596,AP001597,CH471079,AF401639,AK054581,AK223576,AK313231,AL833200,AY061853,BC036761,CR612850,AK304124 NP_443186,EAX09953,EAX09954,AAK84158,BAB70764,BAD97296,BAG36042,CAI46188,AAL35737,AAH36761,Q96J86,BAH14110 Hs.724661 C21orf95 cysteine and tyrosine-rich 1|cysteine and tyrosine-rich protein 1|proline-rich domain-containing protein protein-coding 1343064 CYorf1 chromosome Y open reading frame 1 9722947 10751 NG_009011,L18173,AC007965 71-7A2|CYorf1|OFD1P18|OFD1PY18 pseudo 1351656 CYorf14 chromosome Y open reading frame 14 12815422 55410 NR_001544,AC009235,AF119903 Hs.138453 CYorf14|PRO2834 miscrna 1352919 CYorf15A chromosome Y open reading frame 15A 16344560,16136134,14702039,12815422,12477932 246126 NM_001005852,AC009977,AC010137,CH471202,AF332224,AI129169,AK090535,AK127387,AK303404,BC110817,BM263181,DA956406 NP_001005852,EAW54666,EAW54667,AAK13476,BAC86953,BAG64458,AAI10818,Q2TAN5,Q6ZSJ5,Q9BZA5 Hs.522863 FLJ33216|MGC131732 OTTHUMP00000035444|hypothetical protein LOC246126 protein-coding 1350080 CYorf15B chromosome Y open reading frame 15B 17213182,16344560,12815422,12477932 84663 NM_032576,AC009977,AC010889,CH471202,AF332225,AL832583,BC035312,DB132733,DT220167 NP_115965,EAW54665,AAK13477,CAD89940,AAH35312,Q8N4A2,Q9BZA4 Hs.592254 lipopolysaccaride-specific response 5-like protein protein-coding 1347953 CYorf16 chromosome Y open reading frame 16 12815422 252946 NR_001553,AC006156,AF527835,AK129785 Hs.559065,Hs.638604 CYorf16|FAM197Y2 pseudo 1354363 CZP2 cataract, zonular pulverulent 2 1598 1606344 D2HGDH D-2-hydroxyglutarate dehydrogenase This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq] 20727073,15070399,17353931,19283509,16442322,16344560,16081310,16037974,15815621,15609246,15489334,14702039,12477932,11181995,8889548,7609436 728294 NM_152783,NG_012012,AC114730,AC133781,CH471063,AF318334,AK027102,AK055846,AK091725,AK094149,AK096060,AK124189,AK304764,AK304773,AK315188,BC031817,BC036604,BC071598,BC073980,CB997999,CK300805,DA927909 NP_689996,AAX82020,EAW71290,EAW71291,EAW71292,AAL55841,BAG51584,BAG52404,BAG52828,BAG53205,BAC85798,BAG65519,BAG65528,BAG37628,AAH36604,AAH71598,Q6ZVR3,Q8N465,Q8WYW4 Hs.516813 D2HGD|FLJ42195|MGC25181 D-2-hydroxyglutarate dehydrogenase, mitochondrial|OTTHUMP00000200073 protein-coding 737576 D4S234E DNA segment on chromosome 4 (unique) 234 expressed sequence 20599942,21084623,9013775,15489334,14702039,12477932,12070131,20878061 27065 NM_001040101,NM_014392,AC110814,CH471131,M98528,M98529,M98534,AK094573,AK125065,AK125172,AK299657,AK301911,AK312288,BC001745,BC034227,CR590666,CR593990,CR594742,CR597350,CR599638,CR600748,CR604793,CR611413,CR612100,CR615319,CR620564 NP_001035190,NP_055207,EAW82430,EAW82431,EAW82432,AAA60355,AAA60152,BAG52889,BAG54158,BAG61574,BAG63337,BAG35215,AAH01745,AAH34227,P42857 Hs.518595 D4S234|NEEP21|NSG1|P21 OTTHUMP00000155127|OTTHUMP00000159148|OTTHUMP00000217303|OTTHUMP00000217304|OTTHUMP00000217305|brain neuron cytoplasmic protein 1|brain specific mrna b|carboxyterminally EE-tagged neuron-enriched endosomal 21 kDa protein|neuron-specific protein family member 1 protein-coding 1346826 DAAM1 dishevelled associated activator of morphogenesis 1 Functions of the cell cortex, including motility, adhesion, and cytokinesis, are mediated by the reorganization of the actin cytoskeleton and recent evidence suggests a role for the Formin homology (FH) proteins in these processes. The protein encoded by this gene contains FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. Wnt/Fz signaling activates the small GTPase Rho, a key regulator of cytoskeleton architecture, to control cell polarity and movement during development. Activation requires Dvl-Rho complex formation, an assembly mediated by this gene product, which is thought to function as a scaffolding protein. Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined. [provided by RefSeq] 2293492,1580863 18218625,18162551,17986009,17482208,17021034,16630611,15489334,14702039,12508121,12477932,11779461,10631086,9734811,18029348,20223827,20351293,20379614 2293492 23002 NM_014992,AL133502,AL359219,CH471061,AB014566,AK021890,AK093813,AK123651,AK291790,BC024781,BC038428,BC064999,BQ050640,BX247986,CR609221 NP_055807,EAW80747,EAW80748,EAW80749,BAA31641,BAG51056,BAC04230,BAF84479,AAH24781,AAH38428,AAH64999,CAD62320,Q9Y4D1 Hs.654934 FLJ41657|KIAA0666 OTTHUMP00000179033|disheveled-associated activator of morphogenesis 1|dishevelled-associated activator of morphogenesis 1 protein-coding 1314563 DAAM2 dishevelled associated activator of morphogenesis 2 1580863 12632087,12477932,11779461,9205841,1538749,14574404,19562778,20010834 23500 NM_015345,AL136089,AL161439,AL357412,AL590999,AL592158,CH471081,AB002379,AK310941,AL596701,AL833083,BC014275,BC047555,BC047575,BC078153,BC128388,BX647839,M78573,AW273797,NM_001201427 NP_056160,CAI20010,CAI23288,CAI16176,EAX03995,EAX03996,BAA20835,CAD89973,AAH78153,Q6DCB0,Q86T65,ACE87347,ACE86663,NP_001188356 Hs.357128 KIAA0381|MGC90515|RP1-278E11.1|dJ90A20A.1 disheveled-associated activator of morphogenesis 2|dishevelled-associated activator of morphogenesis 2 protein-coding 1353804 DAB1 disabled homolog 1 (Drosophila) The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq] 1580863,1358468,2317783,2317973 19913121,20600896,20628086,12606711,12581169,12477932,12446734,12077184,11812785,11716507,11279201,11137154,10959835,10827173,10460257,10380922,10373567,9837937,9790777,9716537,11967127,12508107,19853035,20041166,20379614,19116273,18519826,18089558,18008369,17974915,17548821,17062576,16951405,16481437,15883038,15718228,15175076,15062102,14961563,14702039,14578885,12834112,12646221,20568118 1358468,2317783,2317973 1600 NM_021080,AL080278,AL109944,AL137855,AL139219,AL161740,AL354883,AL355004,AL357373,AL359739,AL365367,AL390243,AL391826,AL442223,AL445193,AL627090,AL663085,AY174217,CH471059,AB210012,AF071062,AF263547,AF525763,AK095513,AK313144,BC067445,BC067446,BC067447,BC112938,CR933698 NP_066566,CAI19217,CAI19218,CAI19219,CAI19220,CAI19221,CAI18815,CAI18816,CAI18817,CAI22360,CAI22361,CAI22362,CAI22364,EAX06637,EAX06638,BAE06094,AAC70068,AAF73058,AAM83107,BAG53075,AAH67445,AAH67446,AAH67447,AAI12939,O75553,Q8NFD0 Hs.477370 OTTHUMP00000010045|OTTHUMP00000011753|OTTHUMP00000011801|disabled homolog 1 protein-coding 731451 DAB2 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) DAB2 mRNA is expressed in normal ovarian epithelial cells but is down-regulated or absent from ovarian carcinoma cell lines. The 770-amino acid predicted protein has an overall 83% identity with the mouse p96 protein, a putative mitogen-responsive phosphoprotein; homology is strongest in the amino-terminal end of the protein in a region corresponding to the phosphotyrosine interaction domain. The down-regulation of DAB2 may play an important role in ovarian carcinogenesis. This gene was initially named DOC2 (for Differentially expressed in Ovarian Cancer) and is distinct from the DOC2A and DOC2B genes (for double C2-like domains, alpha and beta). [provided by RefSeq] 1580863 20936779,15837803,9620555,12857860,19204726,18582465,18354201,18070591,17671122,17115114,17081983,17009406,16984970,16964243,16870701,16267015,16061224,15894542,15489334,15302935,15280374,15231748,15134832,14669280,14596919,12881709,12853125,12805222,12606711,12477932,12473651,11967127,11927540,11906161,11812785,11387212,11371563,11247302,11161789,11039902,10769163,10542228,10340382,9569023,8889548,8660969,8314147,21063401,20525238,15247260,17474147,19423540,19581412,19767570,19855435,19956625,20379614,20383146,20406964,20438785,20628624,20592473 1601 U41111,AF188298,AK024965,AK130136,AK297984,AK314381,BC003064,BU742719,CB989218,CR606825,CR611289,CR620235,L16886,U39050,U53446,NM_001343,AC008846,AC008916,AF205890,CH471119 EAW55994,AAB19032,AAF05540,BAG60293,BAG37007,AAH03064,AAA93195,AAC50824,AAA98975,P98082,ABM82798,ABW03444,EAW55992,EAW55993,NP_001334,AAF23161,EAW55989,EAW55990,EAW55991 Hs.481980 DOC-2|DOC2|FLJ26626 OTTHUMP00000221142|differentially-expressed protein 2|disabled homolog 2|mitogen-responsive phosphoprotein protein-coding 732352 DAB2IP DAB2 interacting protein DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor gene and is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM] 632628,1580863 15386433,15310755,15164053,19423541,18794092,18073375,16964243,16328005,15817459,15041729,14978793,14702039,12813029,12477932,12446720,12168954,11944990,11812785,11214970,20308539,17389591,18281285,21071540,20622881,19549807,19866473,19900942,19903888,20080667,20154697,20450899 632628 153090 NM_032552,NM_138709,AL357936,AL365274,CH471090,AB051530,AF367051,AK054851,AK096391,AK124609,AK124610,AY032952,BC011496,BC037314,BC040911,BC146762,BM546615 NP_115941,NP_619723,CAH72155,CAH72156,CAH72158,CAQ10385,CAQ10386,EAW87501,EAW87502,EAW87503,EAW87504,BAB21834,AAM00371,BAG54058,AAK50336,AAI46763,Q5VWQ7,Q5VWQ8 Hs.522378 AF9Q34|AIP1|DIP1/2|FLJ39072|KIAA1743 ASK-interacting protein 1|ASK1-interacting protein 1|DAB2 interaction protein|DAB2-interacting protein|DOC-2/DAB2 interactive protein|OTTHUMP00000197226|disabled homolog 2 (drosophila) interacting protein|disabled homolog 2-interacting protein|nGAP-like protein protein-coding 1606339 DACH1 dachshund homolog 1 (Drosophila) This gene is similar to the Drosophila melanogaster dachshund gene, which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. It is a member of the Ski gene family and is thought to be involved in eye development. Four alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq] 18029348,19351840,19502783,19605405,19901965,20351289,20379614,20383146,14525983,18957060,18639284,18467491,17891780,16980615,16189514,15818552,15489334,15057823,14702039,14628042,14563999,12477932,12215533,12057194,11950062,11543628,11025202,10502110,10395809,9933575,9651501,19913121,20628086,17182846,20956529 1602 AA007235,NM_004392,NM_080760,NM_080759,NG_011849,AL138698,AL139186,AL163542,AL354995,CH471093,AF069509,AF102546,AF356492,AJ005670,AK001000,AL079278,BC021219,BM476209,BQ440916,BQ938052,BQ951567 NP_004383,NP_542938,NP_542937,CAH73303,CAH73304,CAC12840,CAI16673,CAH73005,CAH73006,CAI14979,CAI14980,EAW80508,EAW80509,EAW80510,EAW80511,EAW80512,AAC33466,AAF01351,AAL08487,CAA06666,CAB45153,AAH21219,Q9UI36,AAI66617 Hs.723339,Hs.129452 DACH|FLJ10138 OTTHUMP00000018494|dachshund homolog 1 2303085 MAMTS48_H protein-coding 1354112 DACH2 dachshund homolog 2 (Drosophila) This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16344560,15885503,15459172,14702039,12477932,12438735,11287190,16917507,18029348,19913121,20628086,20211142 117154 NM_001139514,NM_001139515,AL023095,AL034406,AL109752,AL138747,AL157381,AL390058,AL591465,CH471104,AF428101,AK055953,AK091842,AK290596,AK294498,AK295648,AK298787,AL834456,BC040213,BC048423,BC114950,NM_053281,NG_012817 NP_444511,NP_001132986,NP_001132987,CAI42168,CAI42169,CAI42954,CAI42955,CAI42587,CAI42588,CAI40274,CAI40275,EAW98554,EAW98555,EAW98556,AAL26561,BAB71054,BAC03761,BAF83285,BAG57717,BAG58518,BAG60925,CAD39116,Q1RMF5,Q96NX9,AAI14951 Hs.86603 FLJ31391|MGC138545 OTTHUMP00000023630|OTTHUMP00000023631|OTTHUMP00000217545|dachshund homolog 2 protein-coding 1348421 DACT1 dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) 1580863 18936100,16446366,15580286,15146197,12632086,12508121,11970895,8889548,18029348,19073771,19733838,20232357,20844743 51339 NM_016651,NM_001079520,AL133312,CH471061,AF251079,AI803159,AK299879,AK316164,AK316169,AK316237,AK316423,AY603415,BK000256,BU742074,BX161433,CN304224,CR610675,DR001289,DR157190 NP_057735,NP_001072988,EAW80742,AAF65569,BAH13159,BAH14535,BAH14540,BAH14608,BAH14794,AAT99436,DAA00310,CAD61905,Q5DM88,Q9NYF0,AAI72261,AAI72563 Hs.714204,Hs.48950 DAPPER|DAPPER1|DPR1|FRODO|HDPR1|THYEX3 dapper homolog 1|dapper homolog 1, antagonist of beta-catenin|dapper homolog 1, antagonist of beta-catenin (xenopus)|hepatocellular carcinoma novel gene 3 protein|heptacellular carcinoma novel gene 3 protein-coding 1321823 DACT2 dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis) 18370954,12632086,12477932,10737800,20379614,20877624 168002 NM_214462,AL606970,CH471051,AF318336,BC092498,BC111764,BC111790,BX329974,BX377941,CR624566,CV427932,DR004351 NP_999627,CAI14850,EAW47467,AAL55843,AAH92498,AAI11765,AAI11791,Q5SW24 Hs.673059 C6orf116|DAPPER2|DPR2|FLJ31232|MGC133141|MGC133142|RP11-503C24.7|bA503C24.7 dapper homolog 2|dapper homolog 2, antagonist of beta-catenin|dapper homolog 2, antagonist of beta-catenin (xenopus) protein-coding 1601931 DACT3 dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) 18538736,16881060,15489334,12477932 147906 NM_145056,AC093503,CH471126,BC016161,BC034052 NP_659493,EAW57438,EAW57439,EAW57440,AAH16161,Q96B18 Hs.515490 MGC15476|RRR1 OTTHUMP00000203030|antagonist of beta-catenin Dapper homolog 3|arginine rich region 1|arginine-rich region 1 protein|dapper homolog 3|thymus expressed gene 3-like protein-coding 1350029 DAD1 defender against cell death 1 DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq] 15835887,8413235,18383209,15489334,15342556,12665801,12477932,10965038,10384128,9373149,9167970,9144178,8125298,7737422,7601483,20379614,20453000,20677014 1603 NM_001344,AL160314,AY259117,CH471078,U84213,AK223129,BC007403,BC009798,BC038575,BP198316,CR407682,CR542204,CR593103,D15057 NP_001335,AAO74827,EAW66252,EAW66253,AAB58540,BAD96849,AAH07403,AAH09798,CAG28610,CAG47001,BAA03650,P61803,Q53G02,ABM83794,ABM87116 Hs.82890 OST2 DAD-1|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1|oligosaccharyl transferase subunit DAD1|oligosaccharyltransferase 2 homolog protein-coding 1626568 DAD1L defender against cell death 1-like 12752258,11912161,10812081 56286 NG_027931,NR_024064,AC026310 DAD-R|DAD1L|DADR pseudo 1344302 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. [provided by RefSeq] 1580863,2314895 7619516,15210115,20736308,20507882,20512930,10684260,17474147,17993586,18201566,18341635,18691338,19109891,19348877,19946898,20044576,20307617,20350218,16344560,16254364,15175275,12920582,12795607,12598319,12592373,12477932,12386278,12177244,12140558,11798066,11724572,11717465,11502221,11430802,11423118,11342559,10988290,10932245,10903901,10769203,10767429,10355629,10207021,9851928,9851927,9169421,9153251,8996823,8268918,8205617,7925941,7774920,7744812,9417121,1406935,1741056,8798547,19587235,19367581,19244252,18983465,18939472,18764929,18456664,18087214,17640712,17516554,17196572,17012237,17005282,16709410,16575202,16466646,19913121,20628086,20625412 2314895 1605 DA451012,DB089586,NG_013230,NM_001165928,NM_001177634,NM_001177635,NM_001177636,NM_001177637,NM_001177638,NM_001177639,NM_001177640,NM_001177641,NM_001177642,NM_001177643,NM_001177644,NM_004393,AC104452,CH471055,AK291692,AW204012,BC012740,BC014616,BF476692,BX402174,CR591955,CR592448,CX871468,DA851197,L19711 NP_001159400,NP_001171105,NP_001171106,NP_001171107,NP_001171108,NP_001171109,NP_001171110,NP_001171111,NP_001171112,NP_001171113,NP_001171114,NP_001171115,NP_004384,EAW64989,EAW64990,BAF84381,AAH12740,AAH14616,AAA81779,Q14118,ABM84417,ABM87434 Hs.76111 156DAG|A3a|AGRNR|DAG OTTHUMP00000210857|OTTHUMP00000210858|dystroglycan protein-coding 1343376 DAGLA diacylglycerol lipase, alpha 12477932,16051747,14610053,12168954,9734811,18801880 747 NM_006133,AP002380,CH471076,AB014559,AY275377,BC150176,BC150195,BC152453,BI963857,CR596071,AI702626 NP_006124,EAW73959,EAW73960,EAW73961,EAW73962,BAA31634,AAQ17119,AAI50177,AAI50196,AAI52454,Q9Y4D2 Hs.241564 C11orf11|DAGL(ALPHA)|DAGLALPHA|NSDDR DGL-alpha|chromosome 11 open reading frame 11|neural stem cell-derived dendrite regulator|sn1-specific diacylglycerol lipase alpha protein-coding 1604501 DAGLB diacylglycerol lipase, beta 16806233,16303743,15489334,14702039,14610053,12690205,12477932,8681137,16169070 221955 NM_139179,AC009412,AC072052,CH236963,CH878731,CQ783180,CQ834678,AF450090,AK074210,AK074584,AK074744,AK075128,AK090943,AK091228,AK093958,AK122748,AK298910,AK298955,AK301087,NM_001142936,AK301104,BC027603,CB528359,DC303993,DC304654,F17444 NP_001136408,NP_631918,EAL23721,EAW55033,EAW55034,EAW55035,EAW55036,EAW55037,CAF86385,CAH05554,AAL47020,BAB85017,BAC11073,BAC11175,BAC11420,BAG52250,BAG52312,BAC04258,BAG53702,BAG61018,BAG61052,BAG62690,BAG62703,AAH27603,Q8NCG7 Hs.487498 DAGLBETA|FLJ33624|FLJ33909|FLJ45532|KCCR13L DGL-beta|OTTHUMP00000208770|sn1-specific diacylglycerol lipase beta protein-coding 1607064 DAK dihydroxyacetone kinase 2 homolog (S. cerevisiae) This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been identified, but the full-length nature of only one has been determined. [provided by RefSeq] 17600090,16344560,16289032,15771780,15489334,14702039,12477932,9373149,8125298 26007 HB877020,HC934429,AP003108,CH471076,AK023915,AK094516,AK223580,AK308553,AL110260,BC001341,BC120929,BF197629,CR593561,DA932478,DB056724,DQ138290,DQ344550,NM_015533 Q2L9C1,Q3LXA3,Q9UFX5,CBF62860,CBU87736,EAW73938,EAW73939,EAW73940,BAB14722,BAD97300,CAB53701,AAH01341,AAI20930,ABA10576,ABC70184,NP_056348,A0AUP5 Hs.6278 DKFZp586B1621|MGC5621|NET45 ATP-dependent dihydroxyacetone kinase|DHA kinase|Dha kinase/FMN cyclase|FAD-AMP lyase cyclic FMN forming|FAD-AMP lyase cyclizing|bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing)|glycerone kinase protein-coding 1352602 DALRD3 DALR anticodon binding domain containing 3 737633 15146197,14702039,12477932 737633 55152 NM_018114,NM_001009996,AC137630,AA553582,AK001358,AK093054,AK093204,AK093294,AK301352,AK308273,BC014099,BC032440,BC047683,BC054493,BX648719,CF455269,CN365208 NP_060584,NP_001009996,BAA91647,BAC04095,BAC04123,BAH13463,AAH32440,AAH47683,AAH54493,Q5D0E6,ACT64557,ACT64558 Hs.708076,Hs.654815 FLJ10496 DALR anticodon-binding domain-containing protein 3|OTTHUMP00000210520 protein-coding 1342724 DAND5 DAN domain family, member 5 This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. 15466485,15254711,14702039,14525956,12477932 199699 AB070695,AK095926,BC025333,BC101800,BC113476,NM_152654,AC092069,CH471106 EAW84337,BAC82440,BAC04651,AAI01801,AAI13477,Q8N907,ADR82845,NP_689867,EAW84336 Hs.331981 CER2|CERL2|CKTSF1B3|COCO|CRL2|DANTE|GREM3|MGC126849|SP1 DAN domain family member 5|cerberus 2|cerberus-like 2|cerberus-like protein 2|cerl-2|cysteine knot superfamily 1, BMP antagonist 3|gremlin-3 protein-coding 1350103 DAO D-amino-acid oxidase This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq] 1298635,1298636,1580863 1356107,2901986,19367581,19309736,19240061,19223009,19156168,18715757,18560437,18544534,18165970,17890006,17728673,17629951,17627036,17492767,17408693,17250995,17179078,17088322,17055463,16828464,16616139,16380905,16344560,15489334,15464270,14966479,12477932,12364586,12053066,11452983,8889548,8195119,8182053,2885296,17336946,20712760,20855273,15956068,18583979,19439994,19586533,19670078,19685198,19693267,19729970,19823762,20178891,20368421,20483168,20602615,20521334 1298635,1298636 1610 D11370,AK312995,BC029057,BC074770,BM932083,BX538210,DA085245,NM_001917,AC087893,CH471054,NG_023236 EAW97834,EAW97835,EAW97836,EAW97837,EAW97838,BAA20974,BAG35832,AAH29057,AAH74770,CAD98069,P14920,Q7Z312,ABM81765,ABM84921,NP_001908 Hs.113227 DAAO|DAMOX|MGC35381|OXDA D-amino-acid oxidase protein-coding 1349838 DAOA D-amino acid oxidase activator This gene encodes a protein that is an activator of the FAD-dependent enzyme D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder, possibly due to decreased levels of D-serine and decreased NMDA receptor functioning. Alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq] 1358627 20667145,19367581,19339914,19237267,19194963,19189879,19167508,19089835,19077230,18775646,18584117,18544534,18541412,18516516,18466879,18423426,18346999,18198266,18165970,18023149,17880399,17767147,17728673,17684499,17651942,17629951,17627036,17492767,17410640,17408693,20889312,17250995,17179866,17179078,17152404,17143075,17055463,17029202,17006672,16842973,16791105,16603472,16585465,16581030,16554747,16402132,16263850,16183301,16082701,16009449,15738936,15546984,15489334,15477870,15271585,15248869,15194506,15121480,15057823,14966479,14759258,12647258,12477932,12364586,17336946,17293043,11181995,18583979,19439994,19482054,19548263,19560517,19689504,19763662,19778423,19937977,20005295,20009237,20145586,20230869,20336655,20471098,20483474,20712760,20957330,21041608,19760675 1358627 267012 NM_172370,AL359751,CH471085,AY138546,AY138547,AY170469,AY170470,AY170471,AY223901,BC121090,BC121091,DQ343761,DQ357223,DQ386869,DQ386870,NG_012694,NM_001161812,NM_001161814 NP_758958,CAH70815,EAX09077,EAX09078,EAX09079,EAX09080,EAX09081,AAN08432,AAN08433,AAO12727,AAO12728,AAO12729,AAO73604,AAI21092,ABC59904,ABC86111,ABD52720,ABD52721,P59103,Q86Y17,Q8IWM2,Q8IWM3,Q8IWM4,NP_001155284,NP_001155286 Hs.381382 G72|LG72|SG72 D-amino acid oxidase activator|G72 transcript|schizophrenia- and bipolar disorder-associated protein G72 protein-coding 737267 DAP death-associated protein This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. [provided by RefSeq] 1300389,1302217,1580863 7828849,17081983,16602700,15489334,15342556,12477932,9916995,8530096,16169070,20237496,20379614,1087798 1300389,1302217 1611 AK311783,BC002726,BP265421,BT006925,CR542184,CR593707,CR607145,CR607455,DC395850,X76105,NM_004394,NG_011546,AC012629,AY266680,CH471102,AK298670 BAG34726,AAH02726,AAP35571,CAG46981,CAA53713,P51397,Q7KZT7,NP_004385,AAO89078,EAX08056,BAG60837 Hs.75189 MGC99796 DAP-1|death-associated protein 1 protein-coding 1313309 DAP3 death associated protein 3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Splice variants that differ in the 5' UTR have been found for this gene; both variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq] 19064571,19644511,10903152,9373149,9284927,8125298,11248257,11162496,11402041,11376335,11279123,17353931,7499268,19536094,19103604,18227431,17613536,16710414,15679048,15302871,15179560,15175341,12706105,12477932,12359235,12099703,11753396,11543634,20563667,18029348,20877624,14702039 7818 NM_033657,AB061210,AL162734,CH471121,AK225869,AK293117,AK298201,AK302281,BC002358,BC107487,BC107488,BT019494,CR590516,CR591643,CR592625,CR594396,CR594545,CR607923,CR610352,CR612221,CR614148,CR615460,CR617063,CR617451,CR619968,CR620113,CR622457,CR624311,CR624714,CR749790,NM_004632,U18321,X83544,AK022879,BQ183744,NM_001199849,NM_001199850,NM_001199851 NP_004623,NP_387506,BAB54960,CAH71647,EAW53043,EAW53044,EAW53045,EAW53046,EAW53047,EAW53048,EAW53049,EAW53050,EAW53051,BAF85806,BAG60471,BAG63624,AAI07488,AAI07489,AAV38301,CAH18651,AAA57443,CAA58535,P51398,NP_001186778,NP_001186779,NP_001186780 Hs.516746,Hs.584927 DAP-3|DKFZp686G12159|FLJ12817|MGC126058|MGC126059|MRP-S29|MRPS29|bMRP-10 28S ribosomal protein S29, mitochondrial|S29mt|death-associated protein 3|ionizing radiation resistance conferring protein|mitochondrial 28S ribosomal protein S29 protein-coding 1323186 DAPK1 death-associated protein kinase 1 Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. [provided by RefSeq] 1300389,1580863 19018866,15634757,15492995,15048887,15018706,14767518,14612952,14530257,14504087,12911633,12820391,12792765,12730201,12708480,12477932,12370243,12351649,12082610,12031912,11809677,11579085,11485996,8530096,15729359,15616583,18995835,18974095,18830724,18813964,18583991,18519826,18425396,18422656,18349282,18336955,18292548,18195017,18026971,17953697,17895359,17868341,17703233,17690039,17683884,17592394,17540169,17523078,17477876,17324930,17324927,17319784,17244621,17209433,17056602,16951219,16858683,16847012,16344560,16213824,16142356,16085644,15809761,19957692,20655775,20811724,16132846,17339337,19267229,19395874,19506903,19627511,19628771,19695681,19795445,19878310,19917631,20005690,20018188,20103772,20220139,20379614,20413850,20471512,20098747,21115918,10629061,7828849,19521987,19259700,19237746,19212339,19180116,19148529,19094228,19196380,20534741,20574532,20677014,18799028,20682398,20630662,21172653,20514412 1300389 1612 DA887235,EF090258,X76104,AL160279,AL161787,AL591852,CH471089,DQ436495,AA846231,AB208871,AK127855,AK295119,AK296839,BC113660,BC143730,BC143733,BC143759,BT006935,CR605555,CR613879,CR626501,CR749834,NM_004938 ADR83287,CAH18690,ABK78671,CAA53712,P53355,Q59H88,Q6ZRZ3,NP_004929,CAI16306,CAH73544,CAH71696,EAW62725,EAW62726,EAW62727,EAW62728,ABD96827,BAD92108,BAC87163,BAG58146,BAH12440,AAI13661,AAI43734,AAI43760,AAP35581 Hs.380277,Hs.693441 DAPK|DKFZp781I035 DAP kinase 1|OTTHUMP00000216193|death-associated protein kinase 1 protein-coding 1312311 DAPK2 death-associated protein kinase 2 This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq] 10376525,10629061,18957423,18521079,17347302,17081983,15761153,15489334,12477932,12087472,11980920,11839665,11839660,19221469,11230133 23604 NM_014326,AC015914,AC021541,CH471082,AB018001,AF052941,AK026801,AK310967,BC114506,BC114951 NP_055141,EAW77657,EAW77658,EAW77659,BAA88063,AAC35001,AAI14507,AAI14952,Q1RMF4,Q9UIK4 Hs.237886 DRP-1|DRP1|MGC119312 DAP kinase 2|DAP-kinase-related protein 1|OTTHUMP00000163874|death-associated protein kinase 2 protein-coding 731385 DAPK3 death-associated protein kinase 3 Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq] 1580863,734875 10356987,12917339,19117059,18515077,18084323,17126281,15910542,15546961,15489334,15292222,15001356,14702039,12560483,12477932,12242277,10602480,10580117,9747039,9488481,20085750 734875 1613 NM_001348,AC011488,CH471139,CQ782734,AB007144,AB022341,AB265224,AK027590,AK074799,AK093792,AK097643,BC126430,BC126432 ADR83007,NP_001339,EAW69276,CAF85967,BAA24955,BAA81746,BAF34614,BAG51355,BAG52004,BAG52765,AAI26431,AAI26433,O43293,Q05JY4 Hs.631844 FLJ36473|ZIP|ZIPK DAP kinase 3|DAP-like kinase|ZIP kinase isoform|ZIP-kinase|death-associated like kinase|death-associated protein kinase 3|dlk protein-coding 1603932 DAPL1 death associated protein-like 1 12477932,12107413,20800603 92196 NM_001017920,AC079877,CH471058,AF086541,AY324399,BC127682,BC127683,BC140719,CD675155 NP_001017920,EAX11424,AAQ93012,AAI27683,AAI27684,AAI40720,A0PJW8 Hs.59761 death-associated protein-like 1|early epithelial differentiation-associated protein protein-coding 1320943 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 11001876,10432293,15494510,15489334,15247305,14563325,12477932,12101241,11781373,11524430,11042152,10983984,10880360,10770799,8889548,17823121 27071 AP001962,CH471057,AF161551,AF163254,AF178987,AF186022,AK301355,AL713793,BC012924,BM968883,CA428013,DN995752,NM_014395 NP_055210,EAX06108,EAX06109,EAX06110,EAX06111,AAF29038,AAD49697,AAF44351,AAF14578,BAG62900,CAD28547,AAH12924,Q9UN19,ABM84502,ABM85591 Hs.436271,Hs.708484 BAM32|DKFZp667E0716 B-cell adapter molecule of 32 kDa|OTTHUMP00000219463|b lymphocyte adapter protein Bam32|dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide|hDAPP1 protein-coding 1347611 DARC Duffy blood group, chemokine receptor The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19913121,20560530,20588308,20628086,20664684,20199879,19454340,19454339,19336370,19206111,19180233,19064726,19060902,19048480,18827265,18804827,18710383,18621010,18608113,18510579,18460195,18248572,18230715,18093292,18067501,17955335,17880612,17416748,17382291,17207965,17073738,16710414,16372020,15847654,15783300,15754970,15569072,15489334,15358176,15327416,15214968,13679391,12956774,12739041,12734373,12697152,20040767,20347396,8889548,10570183,7689250,19454342,19454341,12477932,12160521,12081195,11813069,11753822,11730271,11446431,9921412,9886340,9746760,9731074,9195930,9058825,8542025,8248172,7833467,7705836,7663520,7592830,2892777,17903293,19290478,19620399,19822078,19927622,20162434,20231434,20431033,20655787,20655790 2532 NM_001122951,NG_011626,AF055992,AF100634,AL035403,AY663416,AY663417,AY663418,AY663419,AY663420,AY663421,AY663422,AY663423,NM_002036,AY663424,AY663425,AY663426,AY663427,AY663428,AY663429,AY663430,AY663431,AY663432,AY663433,AY747695,DQ181553,DQ181554,DQ181555,DQ181556,DQ181557,BM671230,DQ181558,DQ181559,DQ181560,DQ181561,DQ181562,DQ181563,DQ181564,DQ181565,DQ181566,DQ181567,S76830,X85785,AF030521,AK291593,AY167991,BC017817,BC095496,BX537430,CA435450,CD701182,EL735542,U01839 NP_002027,NP_001116423,AAC72301,AAF02415,AAF02416,CAB56228,CAI17895,CAI17896,AAU47275,AAU47276,AAU47278,AAU47279,AAU47281,AAU47282,AAU47284,AAU47285,AAU47287,AAU47288,AAU47290,AAU47291,AAU47293,AAU47294,AAU47296,AAU47299,AAU47300,AAU47302,AAU47303,AAU47305,AAU47306,AAU47308,AAU47309,AAU47311,AAU47312,AAU47314,AAU47315,AAU47317,AAU47318,AAU47320,AAU47321,AAU47323,AAU47324,AAU47326,AAU47327,AAW71991,ABA10403,ABA10404,ABA10406,ABA10407,ABA10409,ABA10410,ABA10412,ABA10413,ABA10415,AAU47297,ABA10418,ABA10419,ABA10421,ABA10422,ABA10424,ABA10425,ABA10427,ABA10428,ABA10430,ABA10431,ABA10433,ABA10434,ABA10436,ABA10437,ABA10439,ABA10440,ABA10442,ABA10443,ABA10445,ABA10446,ABA10416,AAB33239,CAA59770,AAD20435,BAF84282,AAO11657,AAH17817,AAH95496,CAD97672,AAC50055,Q16570,Q3L2S9,Q3LSS9,Q3LST0,Q4VBN9,Q5JY94,Q5Y7A1,Q5Y7A2,Q5Y7A3,Q5Y7A4,Q7Z3T3,Q8IWP5,ABM82892,ABM86081 Hs.153381 CCBP1|CD234|Dfy|FY|GPD|GpFy|WBCQ1 Duffy antigen/chemokine receptor|Duffy blood group antigen|Fy glycoprotein|OTTHUMP00000035293|OTTHUMP00000035294|OTTHUMP00000035295|glycoprotein D|plasmodium vivax receptor protein-coding 732389 DARS aspartyl-tRNA synthetase Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate during protein biosynthesis. [provided by RefSeq] 1580863 18029348,11714285,16055448,17474147,8052601,8078941,8188258,9278442,8449960,17220478,16189514,15779907,15489334,12824064,12477932,11829477,10913161,10200289,9878398,9373149,8125298,7806521,2674137,1651330 1615 AC011999,AC093391,CH471058,AK129521,AK222476,AK290607,AY762100,BC000629,BC107749,BI753718,BT006710,BU615302,CR598543,CR608647,CR619925,CR749809,NM_001349,J05032 NP_001340,AAY15029,AAY24055,EAX11617,EAX11618,EAX11619,EAX11620,BAD96196,BAF83296,AAX07827,AAH00629,AAI07750,AAP35356,CAH18669,AAA35567,P14868,Q53R85,Q53T60,Q68CR9,ABM81667,ABM84838 Hs.503787 DKFZp781B11202|MGC111579 aspRS|aspartate tRNA ligase 1, cytoplasmic|aspartate--tRNA ligase|aspartyl-tRNA synthetase, cytoplasmic|cell proliferation-inducing gene 40 protein|cell proliferation-inducing protein 40 protein-coding 1605663 DARS2 aspartyl-tRNA synthetase 2, mitochondrial 19209188,17384640,16710414,15779907,15489334,14702039,12477932,9878398,19592391,18029348,20877624 55157 NM_018122,AL109921,CH471067,AK001376,AK022754,AK290873,AL833633,BC045173,AL519850,NG_016138 NP_060592,CAI20380,EAW90960,EAW90961,EAW90962,BAA91658,BAB14228,BAF83562,AAH45173,Q6PI48,Q9H9M6,Q9NVT8 Hs.647707 ASPRS|FLJ10514|LBSL|MT-ASPRS|RP3-383J4.2 aspartate tRNA ligase 2, mitochondrial|aspartyl-tRNA synthetase, mitochondrial protein-coding 1345950 DAXX death-domain associated protein This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 17081983,17035242,16818774,16810318,16731959,16679534,16569639,16524876,16475184,16455055,16406523,16331268,16088932,15919932,15861194,15795247,15637079,15489334,15339933,15302935,15258908,15240113,15128734,15033475,14990586,14978102,14678985,14637155,14574404,14557665,14517282,12968034,12954772,12953102,12917339,12595526,12529400,12482984,12482920,12477932,12150977,12140263,12097584,12033769,11948183,11842083,11799127,11773067,11716541,11495919,17081986,11483955,11244500,11193028,11112409,11034606,11003656,10684855,10669754,10525530,10444590,10393185,9743501,9645950,9545376,9521053,9407001,9373149,8125298,18583933,18691969,14499622,11907324,20444888,20484509,15572661,10698492,9215629,19369322,19106612,18932217,18566590,18558084,18508722,18480747,18480450,18200667,18031230,18003619,17947514,17942542,17938171,17707345,17661348,17596307,17471023,17404597,17389020,17362989,17289031,20504901,15016915,15247905,15350595,15364927,15604093,15878163,15983381,16845383,18029348,19372739,19563778,19690170,19837266,19851445,19944121,20097304,20147399,20153724,20185822,20014998,17210684,19308989,19862764,20936779 1616 NR_024517,NM_001141969,NM_001350,NM_001141970,AL662820,AL662827,BX248088,CH471081,CR759786,CR759817,Z97183,Z97184,AF006041,AF015956,AF039136,AF050179,AF097742,AK223404,AK292187,AK303767,AK303854,AK309612,AK313034,BC000220,BC073776,BC109073,BC109074,BM997178,CR457085,DC345308,DC359186,AB209493 NP_001135441,NP_001341,NP_001135442,CAI18124,CAI18125,CAI95539,CAI17527,CAI17528,CAI41788,CAI95544,CAI95545,EAX03722,EAX03723,EAX03724,CAQ08265,CAQ08035,CAB09986,CAB09989,AAB63043,AAB66585,AAB92671,AAC39853,AAC72843,BAD97124,BAF84876,BAG64733,BAG64795,BAG35867,AAH00220,AAI09074,AAI09075,CAG33366,Q4VX54,Q53F85,Q59FG7,Q5STK8,Q5STR5,Q9UER7,BAD92730,ABZ92478 Hs.336916 BING2|DAP6|EAP1|MGC126245|MGC126246 CENP-C binding protein|ETS1-associated protein 1|Fas-binding protein|death domain-associated protein 6|death-associated protein 6|fas death domain-associated protein|hDaxx protein-coding 1349512 DAZ1 deleted in azoospermia 1 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq] 15476166,15253135,15066460,15066457,12815422,12801575,12752250,12511597,12477932,12039700,11883873,11870237,11869379,11694340,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9700189,9321470,8981970,8968756,8896558,8845845,8661148,7670487,15081113,16001084,19223287,19030103,18440997,18385127,18326516,17881721,17609244,17453684,17416365,17412880,16963411,16848763,16805138,16777954,16674553,16580401,16491269,16275261,16085382,16078663,16021857,15571102,20663794,16946704,19865085,20039973,20170395 1617 NM_004081,NG_004755,NG_008286,AC010088,AC053490,AF414183,AY466627,AY466628,AY466629,AY466630,AY547293,AY571147,AF271088,AK310133,BC114927,DB461291,U66077,AF271087 NP_004072,AAL24501,AAR31726,AAR31727,AAR31728,AAR31729,AAS55959,AAS78586,AAF91406,AAI14928,Q1RMF9,Q6PY97,Q6S4N0,Q96P42,Q9NQZ3,AAF91405 Hs.70936,Hs.522868 DAZ|FLJ17175|SPGY OTTHUMP00000040904|deleted in azoospermia protein 1 protein-coding 1347546 DAZ2 deleted in azoospermia 2 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 7670487,8896558,19223287,17416365,16963411,16674553,16580401,16491269,15066460,15066457,12815422,12801575,12752250,12511597,12477932,11883873,11870237,11869379,11694340,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9700189,9557839,9321470,8968756 57055 NM_001005786,NM_001005785,NM_020363,NG_004755,AC006983,AC007039,AC053490,AF248480,AF414184,AK302398,AK302690,BC113006,U21663 NP_001005786,NP_001005785,NP_065096,AAF91329,AAL24502,BAH13695,BAG63919,AAI13007,AAB02393,Q13117 Hs.592257 DAZ3|MGC126442|pDP1678 OTTHUMP00000040905|OTTHUMP00000040907|deleted in azoospermia protein 2|deleted in azoospermia protein 3 protein-coding 1344002 DAZ3 deleted in azoospermia 3 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq] 1580863 19223287,17416365,16963411,15066460,15066457,14639527,12815422,12801575,12752250,12511597,12477932,11883873,11869379,11694340,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9700189,9321470,8968756,8896558,8845845,8661148,7670487 57054 AF248481,NM_020364,NG_004755,AC010089,BC036648,BC113005 AAF91330,Q9NR90,NP_065097,AAI13006 Hs.70936,Hs.592257 MGC126441|pDP1679 deleted in azoospermia 3|deleted in azoospermia protein 3 protein-coding 1354496 DAZ4 deleted in azoospermia 4 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 19223287,17416365,16963411,15489334,15066460,15066457,14639527,12815422,12801575,12752250,11870237,12511597,12477932,11883873,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9847074,9700189,9321470,8968756,8896558,7670487,11869379,11694340 57135 NM_020420,NM_001005375,NG_004755,AC006338,AC010089,AF248482,AF248483,AL833003,BC047480,BC047617,HC006898,HC044617,AC006982 NP_065153,NP_001005375,AAF91331,AAF91332,CAH56318,AAH47480,AAH47617,Q658T2,Q86SG3,CBH19254,CBH30638 Hs.70936 pDP1680|pDP1681 OTTHUMP00000042591|OTTHUMP00000042592|OTTHUMP00000042593|deleted in azoospermia 1|deleted in azoospermia protein 4 protein-coding 1313216 DAZAP1 DAZ associated protein 1 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 1580863 10857750,18029348,19285026,18391021,16848763,16209998,15744350,15489334,14702039,12477932,12185095,11604102 26528 NM_170711,NM_018959,AC005329,AC027307,AY681494,CH471139,AF181719,AK056850,AK092894,AK124583,AK125032,AL360261,BC012062,BI909277,CR601549,CR608914,CR619052,CR626076,HB886995,HC944404 NP_733829,NP_061832,AAW01463,EAW69501,EAW69502,EAW69503,EAW69504,AAF78364,BAB71295,BAG52625,AAH12062,Q5IRM7,Q96EP5,ABZ92479,CBF67654,CBU92528 Hs.222510 MGC19907 DAZ-associated protein 1|deleted in azoospermia associated protein 1|deleted in azoospermia-associated protein 1 protein-coding 1316588 DAZAP2 DAZ associated protein 2 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region and is deleted in many azoospermic and severely oligospermic men. It is thought that the Y chromosomal DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. 1580863 19304756,16713569,17935665,16189514,15629043,15489334,15231748,14702039,14530442,12477932,11342538,10857750,7584044,16169070,16344560,17984221,19060904,8889548,17207965 9802 CR590843,CR594491,CR595995,CR598969,CR599409,CR602531,CR607711,CR609119,CR612770,CR614908,D31767,NM_014764,AC139768,CH471111,AK095963,AK125855,AK290119,AY430097,BC002334,BC007900,BX647278,AC046135,AK293330,AK303828,BM982980,BU662353,CD697667,DA900264,DC303613,DC341917,NM_001136264,NM_001136266,NM_001136267,NM_001136268,NM_001136269 BAA06545,Q15038,NP_055579,EAW58181,EAW58182,BAF82808,AAR11454,AAH02334,AAH07900,BAG56846,BAG64775,NP_001129736,NP_001129738,NP_001129739,NP_001129740,NP_001129741,ADQ31699 Hs.369761 KIAA0058|MGC14319|MGC766|PRTB DAZ-associated protein 2|deleted in azoospermia associated protein 2|deleted in azoospermia-associated protein 2|proline-rich transcript in brain|proline-rich transcript, brain-expressed protein protein-coding 1352695 DAZL deleted in azoospermia-like The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. [provided by RefSeq] 1580863 8968755,16001084,9288969,19342699,18178196,18088417,18062861,18023443,17918711,16884537,16730721,16573709,16328470,16123080,15879466,15607425,15595957,15520024,15489334,15220464,15066460,12511597,12477932,12414900,12200456,12029071,11956819,11872225,11675467,11499325,11390979,11058556,10903443,10857750,10819768,10819456,10775651,10689024,10527983,10393944,10340994,9700189,9294855,9143498,8968756,8896558,20462796,16344560,19327014,19865085,19881148,20008336,20685756 1618 HC006900,NM_001351,AC010139,CH471055,U77467,U77476,AK303026,AK310341,BC027595,BX648638,U65918,U66078,U66726,DB080081,NM_001190811,NG_023329 CBH19255,NP_001342,EAW64278,EAW64279,AAB84361,BAG64152,AAH27595,CAI45996,AAC50813,AAB63596,AAB39935,Q5HYB4,Q92904,ABW03677,NP_001177740 Hs.131179 DAZH|DAZL1|DAZLA|MGC26406|SPGYLA DAZ homolog|DAZ-like autosomal|SPGY-like-autosomal|deleted in azoospermia-like|deleted in azoospermia-like 1|deleted in azoospermia-like autosomal|germline specific RNA binding protein|spermatogenesis gene on the Y-like autosomal protein-coding 1352710 DBC1 deleted in bladder cancer 1 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq] 1580863 9545632,9175739,7757816,19218236,19834503,20070850,20074560,20379614,20429629,12442002,14712213,11420708,19506219,18264085,17660530,16369496,15746151,15643521,15489334,15164053,12477932,10469456,10444335 1620 NM_014618,AC006239,AL138894,AL353773,CH471090,AF027734,AK293501,AK293649,BC021560,BC065196,BC071702,Z41452 NP_055433,CAH72027,CAH72028,CAI16000,CAI16001,EAW87455,EAW87456,AAC39691,BAG56986,BAG57101,AAH21560,AAH65196,AAH71702,O60477 Hs.532316 DBCCR1|FAM5A OTTHUMP00000022751|OTTHUMP00000022752|bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A))|deleted in bladder cancer chromosome region candidate 1|deleted in bladder cancer protein 1 protein-coding 1605697 DBF4 DBF4 homolog (S. cerevisiae) 19744312,19864417,16826239,10373557,15231747,12791985,10846177,15226314,15707391,19111665,18714392,18536724,18503552,18286467,17768177,17276990,16899510,15374998,15302935,14702039,12853948,12614612,12535533,12477932,12420215,12015319,10523313,15489334,10517317,12441400 10926 NM_006716,AC003083,AC005164,CH236949,CH471091,AB028069,AB028070,AF160249,AF160876,AK022969,AK292569,AK302010,AK303175,BC014909,BC022811,BC035632,BC036045,BC047693,CR606603 NP_006707,AAS07442,AAS07418,EAL24170,EAW76930,EAW76931,EAW76932,BAA78326,BAA78327,AAD41911,AAD45357,BAG51144,BAF85258,BAG63412,BAH13912,AAH36045,AAH47693,Q9UBU7 Hs.485380 ASK|CHIF|DBF4A|ZDBF1 DBF4-type zinc finger-containing protein 1|OTTHUMP00000207082|activator of S phase kinase|chiffon homolog A|protein DBF4 homolog A|zinc finger, DBF-type containing 1 protein-coding 1604789 DBF4B DBF4 homolog B (S. cerevisiae) This gene encodes a regulator of the CDC7-like 1 protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and its expression is cell cycle-regulated. Alternative splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq] 16189514,15668232,14702039,12477932,12065429,15782160,12975309,16344560,19111665 80174 NM_145663,NM_025104,AC005180,AC091152,CH471178,AF448801,AF465820,AK023149,AK125771,AK295296,AK303282,BC016158,BC026999,BC033660,AW290902,AY358101,BM476186,DA475446,NR_036623 NP_663696,NP_079380,EAW51581,EAW51582,EAW51583,EAW51584,EAW51585,EAW51586,EAW51587,AAM73808,AAL75985,BAB14431,BAG54245,BAG58278,BAG64361,AAH16158,Q8NFT6,Q6UY31,AAQ88468 Hs.727619 ASKL1|CHIFB|DRF1|FLJ13087|MGC15009|ZDBF1B|chifb ASK-like protein 1|Dbf4-related factor 1|activator of S phase kinase-like protein 1|activator of S-phase kinase-like protein 1|chiffon homolog B|protein DBF4 homolog B|zinc finger, DBF-type containing 1B protein-coding 736659 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq] 1580863,1625572,1625569,1625571,1358584,1358583,4139904 3443096,14718574,19415821,19360691,19352218,19219470,19156168,19152006,19107190,19086053,19058789,19016604,18982239,18973765,18821566,18821565,18722802,18486967,18404133,18338249,18330705,18275850,18270970,18207134,18173840,18172755,18081028,18032384,18030083,17853400,17728669,17625104,17503507,17503472,17457369,17200925,17187001,17171650,17157269,17131588,17095019,16876143,16831359,16741944,16616989,16616730,16389711,16335952,16272956,16252068,16152569,16133787,16097364,16032443,15767706,15505174,15489334,15205702,15167700,15164053,15102340,15077009,15028279,14991826,12960750,12833405,12778453,12730829,12707943,12660802,12624717,12555232,12488060,12477932,12360111,11943777,11904130,11904129,11857564,11170900,11140838,10887204,10686491,10490716,10391210,10391209,10075201,9763470,9688506,8546710,7918370,7759508,3972830,3180847,2922261,20129829,19913121,20602615,20628086,15498570,15796803,19506906,19560519,19604093,19673036,19757024,19772578,19851296,19874574,19944766,20006992,20009769,20035263,20127808,20198315,20350135,20418890,20430042,20464528,20468064,20498626,20505554,20691427,20732903,20734064,20931244,21070631 1625572,1625569,1625571,1358584,1358583,4139904 1621 NM_000787,NG_008645,AC000404,AC001227,AC002101,AL365494,CH471090,X13257,X13258,X13259,X13260,X13261,X13262,X13263,X13264,X13266,X13267,X13268,X14357,BC017174,CD014125,CR596213,X13255,X13256,Y00096 NP_000778,CAI13353,CAI13354,EAW88099,AAH17174,CAA31631,CAA31632,CAA68285,P09172,ABM84556,ABW03484 Hs.591890 DBM dopamine beta hydroxylase|dopamine beta-hydroxylase protein-coding 736302 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 3020548,19088433,19086053,18240651,17266179,17262885,17044054,16908521,16904689,16344560,16055366,16042405,15815621,15489334,15342556,14755437,14602800,12665801,12477932,12396232,12015306,10737800,9657356,9477145,9022045,8964506,8634149,8396705,8245508,8043504,7794798,7789980,7626442,7534063,7527352,3525533,3413112,2881742,1469708,1440058,16169070,19815704,19874574,20511713,17207965 1622 AA096224,AM000001,BC006466,BC062996,BF801230,BP294452,BP318721,BU599304,CR456956,DA226476,FM213122,FM213123,FM213124,FM213125,L76366,FM213126,FM213127,FM213128,FM213129,FM213130,FM213131,M14200,M15887,NM_001178017,NM_001178041,NM_001178042,NM_001178043,NM_001079862,NM_020548,NM_001079863,AC016736,CH471103 CAJ00736,AAH62996,CAG33237,CAR82404,CAR82405,CAR82406,CAR82407,CAR82408,CAR82409,CAR82410,CAR82411,CAR82412,CAR82414,AAA52171,AAA35788,P07108,NP_001171488,NP_001171512,NP_001171513,NP_001171514,NP_001073331,NP_065438,NP_001073332,AAY14873,EAW95214,EAW95215,EAW95216,ADQ33132 Hs.78888 ACBD1|ACBP|CCK-RP|EP|MGC70414 GABA receptor modulator|OTTHUMP00000203626|acyl coenzyme A binding protein|acyl-CoA-binding protein|acyl-Coenzyme A binding domain containing 1|cholecystokinin-releasing peptide, trypsin-sensitive|diazepam binding inhibitor|diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)|diazepam-binding inhibitor|endozepine protein-coding 1350044 DBIL1 diazepam binding inhibitor-like 1 1623 NG_003024,AC008434 DBIL1 pseudo 1347265 DBIL2 diazepam binding inhibitor-like 2 (pseudogene) 7789980,2185430 1624 L27274,NG_001112,AL078601 DBIL2|DBIP1 pseudo 1344043 DBIL3 diazepam binding inhibitor-like 3 1625 1353371 DBIL4 diazepam binding inhibitor-like 4 2185430 1626 4889641 DBIL5P diazepam binding inhibitor-like 5, pseudogene 11024294 100131454 AC087392,AF229804,CH471108,NR_024120 AAF79122,EAW90652 Hs.662289 ELP2P pseudo 4889622 DBIL5P2 diazepam binding inhibitor-like 5 pseudogene 2 11024294,12174196 100169989 AC009501,AF229803,NG_008463,NR_036635 AAF79121,Q9NRE5 Hs.606147 ELP1P pseudo 4145469 DBIP3 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 3 791082 AC009171,NG_005846 pseudo 732725 DBN1 drebrin 1 The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq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s.130316 D0S117E|DKFZp434D064 OTTHUMP00000165798|OTTHUMP00000223806|developmentally-regulated brain protein|drebrin|drebrin E|drebrin E2|drebrin-1 protein-coding 1604304 DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 19077176,16341674,14702039,12477932,19340012,19349376 79007 NM_001042610,NM_024043,AC092143,AC133919,CH471184,AK022644,AK090696,AK090965,AK096507,AK298932,AK308737,AL713678,BC000700,BM747302,CR594535 NP_001036075,NP_076948,EAW66663,EAW66664,EAW66665,EAW66666,BAB14152,BAG61035,CAH10640,AAH00700,Q9H9R9 Hs.301394 FLJ12582|MGC3101 dysbindin domain-containing protein 1 protein-coding 1313063 DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2 16618118,16381901,16341674,16305340,16303743,16189514,15489336,15489334,15342556,14702039,12477932,11780052,11076863,10931946,17213182,15146197,16712791 55861 NM_001048222,NM_001048221,NM_001048224,NM_001048223,NM_001048226,NM_001048225,AL021578,CH471077,AF220191,AJ276469,AL591565,AY113697,BC001105,BC012818,BG703352,BM767886,BP308674,BP330715,CR595212,CR600511,AK000531,CR604473,CR610357,CR618022,CR618346,CR622797,CR625786,DT216122,AW516035,BI666711,BQ787725,BX335176,CB155210,CN347771,NM_001197139,NM_001197140,NM_018478 CAB83042,NP_001041687,NP_001041686,NP_001041689,NP_001041688,NP_001041691,NP_001041690,CAC18108,CAC18109,CAI21085,CAI21087,EAW75848,EAW75849,EAW75850,EAW75852,EAW75853,EAW75854,AAF67656,BAA91235,CAC39141,AAM77463,AAH01105,AAH12818,Q331S6,Q5QPV4,Q5QPV5,Q5QPV6,Q9BQY9,CAL38004,CAL38274,CAL38557,NP_001184068,NP_001184069,NP_060948 Hs.655055 C20orf35|CK1BP|HSMNP1 OTTHUMP00000031122|SCF apoptosis response protein 1|casein kinase-1 binding protein|dysbindin domain-containing protein 2 protein-coding 1606301 DBNL drebrin-like 19336002,10567356,17353931,18829961,17306257,17081983,16964243,16189514,16094384,16055701,15637062,15592455,15498874,15489334,15144186,14729663,14702039,14557276,12913069,12690205,12565838,12477932,11689006,11595038,10087302,9891087,9858486,19060904,17207965 28988 NM_014063,NM_001014436,AC017116,CH236960,CH471128,AB209486,AF077353,AF151364,AF197060,AF218020,NM_001122956,AF250287,AK027367,AK126142,AK293151,AK293279,AK293340,AK293698,AK296778,AK298102,AK300630,AK302037,BC011677,BC023589,BC031687,CR457167,CR593669,CR597853,CR599020,CR606615,CR614209,CR615718,CR626558,DC404852 NP_001116428,NP_054782,NP_001014436,EAL23770,EAW61129,EAW61130,EAW61131,EAW61132,BAD92723,AAF80228,AAG13120,AAF13701,AAG17262,AAF81273,BAB55065,BAG56697,BAG56807,BAG56856,BAG57133,BAG59356,BAG60387,BAG62321,BAG63431,AAH11677,AAH31687,CAG33448,Q59FH4,Q9UJU6,ADQ32376 Hs.436500 ABP1|HIP-55|SH3P7 HPK1-interacting protein of 55 kDa|OTTHUMP00000207761|OTTHUMP00000207763|OTTHUMP00000207765|OTTHUMP00000207768|OTTHUMP00000214095|OTTHUMP00000214096|OTTHUMP00000214097|SH3 domain-containing protein 7|cervical SH3P7|cervical mucin-associated protein|drebrin-F|drebrin-like protein|src homology 3 domain-containing protein HIP-55 protein-coding 733159 DBP D site of albumin promoter (albumin D-box) binding protein DBP is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family (Khatib et al., 1994 [PubMed 7835883]).[supplied by OMIM] 1625350,1580863 8786133,19302999,19109932,18721734,18228528,18038108,18035050,17342072,17213182,16868893,16637263,16528748,15820770,15489334,12968673,12805554,12477932,12062854,12044990,11230793,10708517,10650888,10508692,10364202,10073576,9110174,8903733,8619474,8499951,8482542,7958972,7835883,1535333,19488670,19543766,19642159,19693801,19839995,20007432,20072116,20174623 1625350 1628 NM_001352,AC008888,AC022154,CH471177,EF015902,U48213,AB208807,AK310025,BC011965,BT006836,CA425431,CR590812,CR604569,CR606822,CR614226,CR616380,CR621936,CR626309,D28468,DT217864,U06936,U79283 NP_001343,EAW52372,EAW52373,EAW52374,EAW52375,ABM64213,AAB18668,BAD92044,AAH11965,AAP35482,BAA05833,AAA81374,AAB50219,Q10586,Q59HF2 Hs.414480,Hs.528006 DABP D site-binding protein|albumin D box-binding protein|albumin D-element-binding protein|d site albumin promoter binding protein|tax-responsive enhancer element-binding protein 302|taxREB302 protein-coding 1351191 DBPHT1 DNA binding protein with his-thr domain 1 387125 1353877 DBPHT2 DNA binding protein with his-thr domain 2 387124 1323625 DBR1 debranching enzyme homolog 1 (S. cerevisiae) The RNA lariat debranching enzyme, or DBR1, specifically hydrolyzes 2-prime-to-5-prime branched phosphodiester bonds at the branch point of excised lariat intron RNA and converts them into linear molecules.[supplied by OMIM] 1580863 10737800,12766061,10982890,17081983,16232320,15489334,14702039,12477932,11886864,2435736,1850323 51163 AL702928,BF987317,CD677175,NM_016216,AC023049,AC068777,CH471052,AF180919,AK000116,AK094147,BC009472,BM150284,CR626522 NP_057300,EAW79083,AAD53327,BAA90954,BAG52827,AAH09472,Q9UK59,ABM86346,ABW03783 Hs.477700 RNA lariat debranching enzyme|lariat debranching enzyme protein-coding 68592 DBT dihydrolipoamide branched chain transacylase E2 The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863,734877 1429740,18063578,18533943,18378174,17922217,16861235,16344560,15489334,14768949,12477932,11839747,11509994,11448970,9621512,8430702,7918575,7672509,6895847,3245861,3189339,2932110,2837277,2742576,2708389,2010537,2001734,1990841,1943690,1889817,1847055,1420314,17353931,20570198,19480318,19615732,18029348,20877624 734877 1629 NM_001918,NG_011852,AL445928,CH471097,X57676,X68104,AK024946,AK303941,AK313191,BC016675,BC030002,BT007372,DA274670,J03208,M19301,M27093,X57677,X66785 NP_001909,CAH72257,CAH72258,EAW72963,CAA48225,BAG64869,BAG36008,AAH16675,AAP36036,AAA35589,AAA59200,AAA64512,CAA47285,P11182,Q5VVL7 Hs.709187 BCATE2|E2|E2B|MGC9061 BCKAD E2 subunit|BCKAD-E2|BCKADE2|E2 component of branched chain alpha-keto acid dehydrogenase complex|branched chain acyltransferase, E2 component|branched-chain alpha-keto acid dehydrogenase complex component E2|dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex|dihydrolipoyl transacylase|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase|lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial|lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex|mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b) protein-coding 1605302 DBX1 developing brain homeobox 1 11239429,21048147 120237 NM_001029865,AC068860,CH471064 NP_001025036,EAW68342,A6NMT0,AAI56155,AAI72465 Hs.558604 developing brain homeobox protein 1|homeobox protein DBX1 protein-coding 1605171 DBX2 developing brain homeobox 2 20379614,11239429 440097 NM_001004329,AC008127,AC079033,AC089986,CH471111,AK131230 NP_001004329,EAW57876,EAW57877,BAD18413,Q6ZNG2,AAI48396 Hs.302764 FLJ16139 developing brain homeobox protein 2|homeobox protein DBX2 protein-coding 1352348 DCAF10 DDB1 and CUL4 associated factor 10 1580863 14702039,12477932,16169070,16949367,16964240,19596235 79269 NM_024345,AL138752,CH471071,AK023620,AK026854,AK074532,AK309712,AK315756,AL533994,BC003520,BC011959,BC108686,BC139834,CB045943,CD299973 NP_077321,CAI13878,EAW58261,EAW58262,EAW58263,BAB15574,BAC11043,AAH03520,AAH11959,AAI08687,AAI39835,Q5QP82 Hs.118394 FLJ23201|MGC10765|MGC131781|WDR32 DDB1- and CUL4-associated factor 10|WD repeat domain 32|WD repeat-containing protein 32 protein-coding 1322665 DCAF11 DDB1 and CUL4 associated factor 11 This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 19109893,19295130,19273594,16344560,15489334,15342556,14702039,12508121,12477932,16949367,16964240,19615732,20562859 80344 BP245093,BX161405,BX247970,BX406971,BX648224,CD644652,CR591345,CR591826,CR593514,CR608759,CR611586,CR612369,CR614614,CR616798,DB003266,DB212727,NM_181357,NM_001163484,NR_028099,NR_028100,AL136295,CH471078,AB209073,AF130070,AF267858,AK027223,AK057636,AK074296,AK091857,AK094478,AK292797,AK296742,AK307849,AL833831,BC008858,BC067132,NM_025230 AAH67132,CAD61885,CAD62308,Q59GN6,Q8TEB1,NP_079506,NP_852002,NP_001156956,EAW66108,EAW66109,EAW66110,EAW66111,EAW66112,EAW66113,EAW66114,BAD92310,AAG35498,AAG44727,BAB15698,BAG51945,BAB85041,BAG52874,BAF85486,BAG59326,CAD38691,AAH08858 Hs.525251 DKFZp779A1629|GL014|PRO2389|WDR23 DDB1- and CUL4-associated factor 11|OTTHUMP00000164697|WD repeat domain 23|WD repeat-containing protein 23 protein-coding 1346609 DCAF12 DDB1 and CUL4 associated factor 12 This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq] 18957058,19295130,16949367,16341674,15761153,12477932,11572484,9110174,8619474,16964240,18096478,19343178 25853 NM_015397,AL354989,CH471071,AB067479,AF085907,AF131771,AI140359,AK000354,AK292935,AL117646,BC008893,BC063823,BC127177,BG718613,BM144957,BM194397,BM747928,CR591883,CR622703,DQ518909 NP_056212,CAI15300,CAI15301,CAI15302,EAW58472,EAW58473,EAW58474,BAB67785,BAA91106,BAF85624,CAB56028,AAH08893,AAH63823,ABG24246,Q5T6F0 Hs.493750,Hs.726117 CT102|DKFZp434O125|KIAA1892|MGC1058|TCC52|WDR40A DDB1- and CUL4-associated factor 12|WD repeat domain 40A|WD repeat-containing protein 40A|cancer/testis antigen 102|centrosome-related protein TCC52|testis cancer centrosome-related protein protein-coding 1347831 DCAF12L1 DDB1 and CUL4 associated factor 12-like 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq] 737633 16949367,12477932 737633 139170 NM_178470,NG_012689,AL590425,CH471107,AI139786,BC035674,BM563914,DN999337 NP_848565,CAH69964,EAX11841,AAH35674,Q5VU92 Hs.722246,Hs.120403 KIAA1892L|WDR40B DDB1- and CUL4-associated factor 12-like protein 1|KIAA1892-like|WD repeat domain 40B|WD repeat-containing protein 40B protein-coding 1603495 DCAF12L2 DDB1 and CUL4 associated factor 12-like 2 12477932,16949367 340578 NM_001013628,AL445072,CH471107,BC136673,BC136674,AY726580,NG_021265 NP_001013650,CAH70502,EAX11842,AAI36674,AAI36675,Q5VW00 Hs.181867 WDR40C DDB1- and CUL4-associated factor 12-like protein 2|KIAA1892-like|WD repeat domain 40B-like|WD repeat-containing protein 40C protein-coding 1604028 DCAF13 DDB1 and CUL4 associated factor 13 14702039,12477932,11790298,11042152,16949367,20601284 25879 AC012213,CH471060,AF161549,AK001693,AK001874,AK027799,AK074725,AL117609,BC026067,NM_015420,BC035190,BC101810,BC107790,BC112042,CA429438,CR608127,CR620911,CR622604 NP_056235,EAW91879,EAW91880,EAW91881,EAW91882,EAW91883,AAF29036,BAG50961,BAA91955,BAB55377,BAC11163,AAH26067,AAI01811,AAI12043,Q9NV06 Hs.532265 DKFZp564O0463|GM83|HSPC064|MGC126859|MGC138247|WDSOF1 DDB1- and CUL4-associated factor 13|WD repeat and SOF domain-containing protein 1|WD repeats and SOF1 domain containing protein-coding 2306328 DCAF15 DDB1 and CUL4 associated factor 15 14702039,12477932,16949367 90379 NM_138353,AC020916,CH471106,AK093072,BC002926,BC013280,BC018894,BC018895,BC068994,BC080575 NP_612362,EAW84386,BAG52648,AAH02926,AAH13280,AAH80575,Q66K64 Hs.443636 C19orf72|MGC99481 DDB1- and CUL4-associated factor 15 protein-coding 1603212 DCAF16 DDB1 and CUL4 associated factor 16 14702039,12477932,16949367 54876 NM_017741,AC005768,CH471069,AK000287,AK056116,BC014536,BC050697,BC068025,BC101716,BC101718 NP_060211,EAW92784,BAA91056,BAG51629,AAH50697,AAH68025,AAI01717,AAI01719,Q9NXF7 Hs.614787 C4orf30|FLJ20280|MGC126765|MGC126767 DDB1- and CUL4-associated factor 16 protein-coding 1605035 DCAF17 DDB1 and CUL4 associated factor 17 19026396,14702039,12477932,8889548,20562859,20507343,16949367,17588513 80067 NM_025000,AC007969,CH471058,AK021599,AK023158,AK307877,BC120957,BC120958,BC140843,BC144653,CA314004,CR602094,CR933646,AK126198,BM676973,NG_013038,NM_001164821,NR_028482 NP_079276,AAY14729,EAX11212,EAX11213,BAB14436,AAI20958,AAI20959,AAI40844,CAI45947,Q0IJ67,Q5H9S7,NP_001158293 Hs.659439 C2orf37|DKFZp781C2086|FLJ13096|FLJ44210 DDB1- and CUL4-associated factor 17 protein-coding 1314746 DCAF4 DDB1 and CUL4 associated factor 4 This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 17207965,16964240,19615732,16949367,15489334,14702039,12477932 26094 NM_015604,NM_181341,NM_181340,NM_001163508,NM_001163509,AC007160,AL442663,CH471061,AK027745,AK297571,AK297742,AK300786,AK315499,AL080157,BC018979,BC035901,BX161489,BX247962,DC314513 ADQ32852,NP_851938,NP_851937,NP_001156980,NP_001156981,EAW81081,EAW81082,EAW81083,BAB55337,BAG59962,BAG60092,BAG62448,NP_056419,BAG37883,CAB45748,AAH18979,AAH35901,CAD61938,CAD62301,Q86SY2,Q8IV10,Q8WV16,ADR82688 Hs.331491 DKFZp434K114|MGC20547|MGC46524|WDR21|WDR21A DDB1- and CUL4-associated factor 4|OTTHUMP00000218710|WD repeat domain 21A|WD repeat-containing protein 21A protein-coding 1604959 DCAF4L1 DDB1 and CUL4 associated factor 4-like 1 16344560,14702039,12477932 285429 NM_001029955,AC106052,CH471069,AK122914,BC035027,BC052943,BC104224,BC104225,DB100231,HC007382 NP_001025126,EAW92995,BAG53795,AAH35027,AAH52943,AAI04225,AAI04226,Q3SXM0,CBH19496 Hs.213307 MGC126021|MGC126022|WDR21B DDB1- and CUL4-associated factor 4-like protein 1|WD repeat domain 21B|WD repeat-containing protein 21B protein-coding 1606458 DCAF4L2 DDB1 and CUL4 associated factor 4-like 2 15489334,14702039,12477932 138009 NM_152418,AC005066,CH471060,AK093094,AK097600,AL833507,BC035011,BC111778 NP_689631,EAW91650,BAC04051,BAC05113,AAI11779,Q8N7W3,Q8NA75 Hs.371738 FLJ35775|MGC133227|WDR21C DDB1- and CUL4-associated factor 4-like protein 2|WD repeat domain 21C|WD repeat-containing protein 21C protein-coding 1315207 DCAF5 DDB1 and CUL4 associated factor 5 20562859,16344560,14702039,12477932,11347906,9740667,9521877,20877624,16949367,16964240,20379614 8816 NM_003861,AL391262,CH471061,AB058727,AF044774,AK054692,AL831823,AL831932,AL834533,BC013239,BC022967,BC136632,BX648006,CR619376,DA058347,R41943 NP_003852,EAW80979,EAW80980,EAW80981,EAW80982,EAW80983,BAB47453,AAC08965,CAD38537,CAD38589,CAD39189,AAH22967,AAI36633,Q8NCX5,Q8TBB7,Q96JK2 Hs.509780 BCRG2|BCRP2|D14S1461E|DKFZp434A035|KIAA1824|WDR22 Breakpoint cluster region protein, uterine leiomyoma, 2|DDB1- and CUL4-associated factor 5|WD repeat domain 22|WD repeat-containing protein 22|breakpoint cluster region protein 2 protein-coding 1350946 DCAF6 DDB1 and CUL4 associated factor 6 737633 15784617,19064610,18673574,17984071,16341674,15761153,14702039,12477932,16169070,16949367,16964240,19536175,16344560 737633 55827 AK226181,AK297847,AL136738,AY766164,BC025262,BM822167,BQ028917,DQ768089,NM_001017977,AL031287,AL033531,AL033532,CH471067,AF116725,AF124434,AF150734,AK000984,AK093970,NM_018442,Z97876,CA310484,DA128283,NM_001198956,NM_001198957 BAG60180,CAB66672,AAX09330,AAH25262,ABG76793,Q58WW2,Q9P0U0,ABM83069,ABM86263,NP_001017977,CAI22480,CAI22481,CAI22482,CAI22484,CAI22478,CAI22479,CAI22625,EAW90808,EAW90809,EAW90810,EAW90811,EAW90812,AAO15301,AAF67474,NP_060912,CAI20077,CAI20078,CAI20079,CAI20081,CAM28292,NP_001185885,NP_001185886 Hs.435741 1200006M05Rik|ARCAP|FLJ23798|IQWD1|MSTP055|NRIP|PC326|RP4-745I14.1 DDB1- and CUL4-associated factor 6|IQ motif and WD repeat-containing protein 1|IQ motif and WD repeats 1|OTTHUMP00000032524|androgen receptor complex-associated protein|nuclear receptor interaction protein protein-coding 1604053 DCAF7 DDB1 and CUL4 associated factor 7 14593110,9192870,18391951,16887337,16344560,15489334,14743216,14702039,12477932,8889548,15778465,16712791,15324660,15761153,16949367,18029348,20940704 10238 NM_005828,AC113554,CH471109,AA206721,AA634196,AI580937,AK022145,AK025925,AK026008,AK130672,AK294925,AK303212,AL832440,BC001264,BC024682,BC027489,BE889428,BF058090,BF507629,BG684075,BM272287,BM559804,BM673647,BQ221019,BQ435051,BX648608,CB162675,CD245570,CR590100,CR591816,CR606772,CR613886,CR624812,DA230140,U94747,BG819062 NP_005819,EAW94305,EAW94306,BAG58007,BAG64301,AAH01264,AAC18913,P61962,ABM82159,ABM85343 Hs.410596 AN11|HAN11|SWAN-1|WDR68 DDB1- and CUL4-associated factor 7|WD repeat domain 68|WD repeat-containing protein 68|WD repeat-containing protein An11 homolog|WD-repeat protein|human anthocyanin|seven-WD-repeat protein of the AN11 family-1 protein-coding 1349472 DCAF8 DDB1 and CUL4 associated factor 8 This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 737633 16949367,16344560,16189514,15342556,14702039,12477932,11401431,9373149,8125298,16964240,19060904 737633 50717 NR_028103,NR_028104,NR_028105,NR_028106,AL139011,CH471121,AI352273,AK022091,AK026213,AK026481,AK093176,AK223475,AK303188,AK312690,BC013107,NM_015726,BC080597,BC098245,BC098271,BC099709,BC099846,BC111063,BP359560,BU629460,CR598549,CR749801,DA622120,DC296401,U06631 NP_056541,CAI15993,CAI15994,CAI15995,CAI15996,CAI15997,EAW52730,EAW52731,EAW52732,BAD97195,BAH13915,AAH13107,AAH80597,AAH98271,AAH99709,AAH99846,AAI11064,CAH18661,AAA16607,Q5TAQ5,Q5TAQ6,Q5TAQ7,Q5TAQ8,Q5TAQ9 Hs.632447 DKFZp781G1096|FLJ35857|H326|MGC117276|MGC118891|MGC99640|WDR42A DDB1- and CUL4-associated factor 8|WD repeat domain 42A|WD repeat-containing protein 42A protein-coding 1346743 DCAF8L1 DDB1 and CUL4 associated factor 8-like 1 16949367,20932654 139425 NM_001017930,AC004553,CH471074,AK128123,NG_021357 NP_001017930,EAW99044,EAW99045,BAG54633,A6NGE4 Hs.447365 FLJ46244|WDR42B DDB1- and CUL4-associated factor 8-like protein 1|WD repeat domain 42B|WD repeat-containing protein 42B protein-coding 1342776 DCAF8L2 DDB1 and CUL4 associated factor 8-like 2 12477932 347442 NM_001136533,AC107613,BC157859 NP_001130005,AAI57860,P0C7V8 Hs.720885 WDR42C DDB1- and CUL4-associated factor 8-like protein 2|WD repeat domain 42C|WD repeat-containing protein 42C protein-coding 1602678 DCAKD dephospho-CoA kinase domain containing 12477932,20379614,20877624 79877 NM_024819,NM_001128631,AC015936,AC116493,CH471178,BX487139,AI497945,AK026608,AK290755,BC006472,BC006546,BC018132,BC033299 NP_079095,NP_001122103,EAW51558,EAW51559,EAW51560,Q8WVC6,EAW51561,EAW51562,BAB15508,BAF83444,AAH06472,AAH06546,AAH18132,AAH33299 Hs.463148 FLJ22955 dephospho-CoA kinase domain-containing protein protein-coding 1353460 DCBLD1 discoidin, CUB and LCCL domain containing 1 15489334,14702039,14574404,12477932,20379614 285761 NM_173674,AL132671,CH471051,Z85999,AJ420528,AJ420597,AK055462,AK095973,AK098194,BC035671,CR749448 NP_775945,CAI23376,CAI43159,EAW48206,EAW48207,CAI43170,CAI43171,BAC04663,BAC05258,AAH35671,CAH18285,Q68DD5,Q8N8Z6 Hs.658304 DKFZp686L21135|MGC46341|dJ94G16.1 discoidin, CUB and LCCL domain-containing protein 1 protein-coding 1346250 DCBLD2 discoidin, CUB and LCCL domain containing 2 632753,737633 11447234,18314483,17697260,17570516,15951569,15489334,14702039,12477932,11973641,10673047,17213806,19696027,20379614 632753,737633 131566 AB073146,NM_080927,AC026303,AC106728,CH471052,AF104313,AF387547,AK001362,AK056350,AK302649,BC007117,BC016815,BC029658,BX647140,D29810 NP_563615,EAW79845,EAW79846,EAW79847,BAB91138,AAL30178,BAH13769,AAH07117,AAH29658,BAA18909,Q14089,Q96IX0,Q96PD2,ABM85923 Hs.203691 CLCP1|ESDN 1700055P21Rik|CUB, LCCL and coagulation factor V/VIII-homology domains protein 1|coagulation factor V/VIII-homology domains protein 1|discoidin, CUB and LCCL domain-containing protein 2|endothelial and smooth muscle cell-derived neuropilin-like protein protein-coding 731288 DCC deleted in colorectal carcinoma 2314372,2314373,2314374,734879,734878,1580863 16971669,8861902,8834768,8188295,8187090,8109990,8044801,7926722,7674088,7587124,2294591,1991322,15494733,12864730,15494732,20800603,21085126,12011067,9796814,19543899,19329758,19242752,19240061,19023099,18922894,18628988,18616430,18302152,18054557,17975119,17553164,17018594,16762451,16715837,16537496,16122883,15811950,15722793,15646429,15574733,15573119,15523694,15491747,14631365,14571268,12901294,12901278,12810718,12787729,12509857,12477932,12432238,12149262,12060632,11986622,11817894,11527412,11518545,11248093,11048721,10719364,9950216,9858595,9334332,20602751,20677014,15494734,16244667,18585357,19690890,19826074,20083228,20150623,20200978,20379614,20431009 2314372,2314373,2314374,734879,734878 1630 NM_005215,AC011155,AC019239,AC021486,AC027248,AC078999,AC090660,AC100777,AC103949,AC110591,AC116002,CH471096,M32286,M32288,M32290,M63696,M63698,M63700,M63702,M63718,S73204,AK302643,AK310385,AW949550,BC036524,M32292,X76132,AC016383,NG_013341 NP_005206,EAW62991,EAW62992,EAW62993,EAW62994,AAA52174,AAA52175,AAA52176,AAA52177,AAA52181,AAA52178,AAA52179,AAA52180,AAB31484,BAG63884,AAH36524,AAA35751,CAA53735,P43146,Q16218,Q49AK4,AAI52809 Hs.162025 CRC18|CRCR1|IGDCC1 colorectal cancer suppressor|colorectal tumor suppressor|deleted in colorectal cancer protein|immunoglobulin superfamily DCC subclass member 1|immunoglobulin superfamily, DCC subclass, member 1|netrin receptor DCC|tumor suppressor protein DCC protein-coding 1349389 DCD dermcidin This gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. [provided by RefSeq] 1580863 17353931,17373842,9736629,19020323,18714373,18599487,18594538,18403914,18372903,18058718,17626247,17448443,16685272,16354654,16142329,15944307,15670776,15489334,15355918,15342556,15340161,12953101,12477932,12429208,11694882,10833321,9139670,8602222,19670153,19703016,19720844,19833888,20510021,20571754,20889853,17207965 117159 NM_053283,AC079310,AF418981,AY044239,CH471054,AF144011,AY590150,BC062682,BC069108,BP313072,EF503687,EF503688,EF503689 NP_444513,AAL25801,AAK94785,EAW96794,AAL18349,AAS99907,AAH62682,AAH69108,ABQ53649,ABQ53650,ABQ53651,P81605,Q53YJ2,ADQ32090 Hs.350570 AIDD|DCD-1|DSEP|HCAP|MGC71930|PIF dermcidin|diffusible survival/evasion peptide|preproteolysin|proteolysis inducing factor|survival promoting peptide protein-coding 1351849 DCDC1 doublecortin domain containing 1 1580863 12820024,16869982,20236041,19801982 341019 AL137804,AL162614,CH471064,AA954541,AY247970,BX097338,NM_181807 NP_861523,CAO03548,CAO03494,EAW68248,AAP75563,P59894,AAI60093 Hs.127405,Hs.592000 FLJ44078 OTTHUMP00000196428|doublecortin domain-containing protein 1 protein-coding 1321007 DCDC2 doublecortin domain containing 2 This gene encodes a protein with two doublecortin peptide domains. This domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Mutations in this gene have been associated with Reading Disability (RD), also referred to as developmental dyslexia. [provided by RefSeq] 1580863 19588467,19944766,21130836,10601354,16278297,19362708,19238550,19096528,19018237,18810304,17450541,17033633,16385449,15489334,14574404,12477932,12168954,10574461,16869982,19302769,19616627,20068590,20236041,20691427,20846247,21046216 51473 NG_012829,NM_016356,AF181720,AL359389,AL359713,AL591344,AB032980,AF181721,AK027036,AL133043,BC050704,BF109922,BM923267,CR611697,AI858903,NM_001195610 NP_057440,AAF23610,CAH73546,CAI17104,CAI17105,CAH71788,CAH71789,BAA86468,AAF23612,CAB61371,AAH50704,Q5T3Y5,Q9UHG0,NP_001182539 Hs.61345 DCDC2A|RU2|RU2S doublecortin domain-containing protein 2 protein-coding 1604739 DCDC2B doublecortin domain containing 2B 12477932,8889548,16869982,20236041 149069 AL049795,BC041458,BC128073,BM980133,NM_001099434 NP_001092904,AAI28074,A2VCK2,CAX15004 Hs.424588 doublecortin domain-containing protein 2B protein-coding 4144303 DCDC2C doublecortin domain containing 2C 15815621,16869982,20236041 728597 AC010907,AC019172,DW010024,DY654549,XM_001127882 A8MYV0,XP_001127882 Hs.631689 OTTHUMP00000200096|doublecortin domain containing 2C|doublecortin domain containing 2C pseudogene|doublecortin domain-containing protein ENSP00000382097-like|putative doublecortin domain-containing protein ENSP00000382097 protein-coding 1603545 DCDC5 doublecortin domain containing 5 11181995,20236041,20379614,16869982,10819331,19801982,20700443 196296 CV574283,NM_020869,XM_002343074,XM_002344546,XM_002344547,XM_002347209,XM_002343054,XM_002347193,XM_002344561,AL133349,AL133376,AL135932,AL137160,CH471064,AB040926,AK128035,AW340116,BX116244,BX117620,BX647348,DB528022 XP_002347250,EAW68250,EAW68253,NP_065920,XP_002343115,XP_002344587,XP_002344588,XP_002343095,XP_002347234,XP_002344602,EAW68252,BAA96017,BAC87240,Q6ZRR9,Q9P235,AAI56060,AAI56943 Hs.626895,Hs.530438,Hs.721299 FLJ46154|KIAA1493 OTTHUMP00000196430|doublecortin domain-containing protein 5 protein-coding 1352461 DCE desmosterol-to-cholesterol enzyme 1631 1349063 DCHS1 dachsous 1 (Drosophila) This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq] 1580863 20379614,9199196,14702039,11597768 8642 NM_003737,AC091564,CH471064,AB000895,AB053446,AK021852,AL831828,BC038382 NP_003728,EAW68683,BAA21133,BAB61903,BAB13913,CAD38541,Q8NDT9,Q96JQ0,Q9HAD6 Hs.199850 CDH25|CDHR6|FIB1|FLJ11790|KIAA1773|PCDH16 cadherin-19|cadherin-25|cadherin-related family member 6|fibroblast cadherin 1|fibroblast cadherin FIB1|fibroblast cadherin-1|protein dachsous homolog 1|protocadherin 16|protocadherin-16 protein-coding 1603301 DCHS2 dachsous 2 (Drosophila) 16344560,15003449,14702039,12477932,9373149,8125298 54798 NM_017639,NM_001142552,NM_001142553,AC079298,AC110608,AC110775,CH471056,AF169691,AK000054,AK095103,AK127704,AK225200,AY354497,AY354498,BC140919,BX647835,DA240588,DB288709 NP_060109,NP_001136024,NP_001136025,AAY41019,EAX04942,EAX04943,EAX04944,EAX04945,EAX04946,EAX04947,AAF89688,BAA90911,BAG52985,BAC87093,AAR10443,AAR10444,AAI40920,Q6V1P8,Q6V1P9,Q9NRU0 Hs.655664 CDH27|CDHJ|CDHR7|FLJ20047|PCDH23|PCDHJ cadherin-27|cadherin-like 27|cadherin-like protein CDHJ|cadherin-like protein VR8|cadherin-related family member 7|dachsous-like|protein dachsous homolog 2|protocadherin 23|protocadherin PCDHJ|protocadherin protein CDHJ|protocadherin protein PCDHJ|protocadherin-23 protein-coding 1352961 DCI dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq] 1580863 7829074,15489334,15351645,12477932,7818490,12107413,8198519 1632 NM_001919,AC009065,CH471112,Z25821,Z25822,Z25823,Z25824,AK291127,BC000762,BC002746,BC009631,BC019316,BC020228,CD675473,CR600516,CR625405,L24774,Z25820,BQ773923,NM_001178029 NP_001910,EAW85523,EAW85524,EAW85525,CAA81066,BAF83816,AAH00762,AAH02746,AAH09631,AAH19316,AAH20228,AAA35485,CAA81065,P42126,Q96DC0,NP_001171500 Hs.403436 3,2 trans-enoyl-CoA isomerase|3,2 trans-enoyl-Coenzyme A isomerase|3,2-trans-enoyl-CoA isomerase, mitochondrial|D3,D2-enoyl-CoA isomerase|acetylene-allene isomerase|delta(3),Delta(2)-enoyl-CoA isomerase|delta3, delta2-enoyl-CoA isomerase|dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase)|dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) protein-coding 1344747 DCK deoxycytidine kinase Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq] 1580863 12808445,20890066,21030078,20637175,1996353,2542307,19428333,19287976,19159229,18974616,18775979,18600545,18600530,18361501,18258203,17855478,17602053,17065091,17065085,17065080,17065079,17065053,16969512,16799820,16401075,16361699,15978330,15571259,15571258,15571257,15571255,15564883,15561147,15028279,14514691,12628850,12535661,12477932,11952160,11830489,11687801,9804782,9342341,8421671,8406512,7718326,7494863,6317685,6315069,2013338,16169070,20544527,20544528,20608756,20614893,20665488,19568409,20028759,20043109 1633 AC093851,CH471057,L07485,AK303292,AK313523,BC103764,BC114617,BI601939,BT019941,BT019942,CD014016,CR536527,CR541876,M60527,NM_000788,NG_023303 NP_000779,EAX05637,BAG64367,BAG36303,AAI03765,AAI14618,AAV38744,AAV38745,CAG38764,CAG46674,AAA35752,P27707 Hs.709 MGC117410|MGC138632 OTTHUMP00000219118|OTTHUMP00000219119|deoxycytidine kinase protein-coding 68655 DCLK1 doublecortin-like kinase 1 DCAMKL1 is a microtubule-associated protein that phosphorylates itself and myelin basic protein (MBP; MIM 159430). DCAMKL1 has microtubule polymerizing activity that is independent of its protein kinase activity (Lin et al., 2000 [PubMed 11124993]).[supplied by OMIM] 1580863 11473121,14741399,17313568,17975023,18052980,20236041,8515813,8889548,20548946,14613930,10036192,10051403,9747029,17903306,15345747,15203218,12692530,12595708,12477932,11884394,11124993,9205841,9110174,8619474,20228126,16869982,16548883,19844571,20379614 9201 BM682165,NM_001195415,NM_001195416,NM_001195430,NM_004734,AL139083,AL157694,AL157760,AL160392,AL390029,CH471075,AB002367,AF052152,AF070534,AK295102,AK295777,AK299059,AK299829,AK308925,AK311183,AK311195,AK311434,AK311438,AK311459,BC152456,BE672499,BI824620,BQ711413,CD619255,CR618189,CR627093,HI584573 NP_001182344,NP_001182345,NP_001182359,O15075,Q5VZY9,AAI60043,NP_004725,CAH70656,CAH70657,CAH70658,CAH70167,CAH70168,CAH70169,CAH70170,CAH70261,CAH70262,CAH70263,CAI15720,CAI15721,CAI15722,EAX08550,EAX08551,BAA20824,BAH11973,BAH12185,BAH12940,BAH13141,AAI52457,CBX55086 Hs.507755,Hs.728619 CL1|CLICK1|DCAMKL1|DCDC3A|DCLK|KIAA0369 OTTHUMP00000018252|double cortin and calcium/calmodulin-dependent protein kinase-like 1|doublecortin and CaM kinase-like 1|doublecortin domain-containing protein 3A|doublecortin-like and CAM kinase-like 1|serine/threonine-protein kinase DCLK1 protein-coding 1348460 DCLK2 doublecortin-like kinase 2 737633 16344560,15611072,15489334,12477932,16869982,18075264,18618084,19342486,20236041 737633 166614 NM_001040260,NM_001040261,AC093748,AC105343,AC108934,AC118064,CH471056,AB209181,AL834498,BC019831,BC032726,DA201927,AI419589,DA122884,NR_036614 NP_001035350,NP_001035351,AAY40983,EAX05001,EAX05002,EAX05003,BAD92418,CAD39156,Q4W5L5,Q8N568,AAI72430,ABM81818,ABM84270,ABM87664 Hs.591683 CL2|CLICK-II|CLICK2|CLIK2|DCAMKL2|DCDC3|DCDC3B|DCK2|DKFZp761I032|MGC45428 CaMK-like CREB regulatory kinase 2|OTTHUMP00000220238|caMK-like CREB regulatory kinase 2|doublecortin and CaM kinase-like 2|doublecortin and cam kinase-like 2|doublecortin domain-containing protein 3B|doublecortin-like and CAM kinase-like 2|serine/threonine-protein kinase DCLK2 protein-coding 1352758 DCLK3 doublecortin-like kinase 3 1580863 16684769,17914117,20236041,16869982,16344560,14702039,11214970,11181995,20379614 85443 NM_033403,AC105749,AB051552,AK122988,DB075681,DR000236,CH471055 NP_208382,BAB21856,BAG53835,Q9C098,EAW64476 Hs.631907 CLR|DCAMKL3|DCDC3C|DCK3|KIAA1765 CLICK-I,II-related|doublecortin and CaM kinase-like 3|doublecortin and cam kinase-like 3|doublecortin domain-containing protein 3C|doublecortin-like and CAM kinase-like 3|serine/threonine-protein kinase DCLK3 protein-coding 1314610 DCLRE1A DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1A is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM] 20385554,18848520,18180189,18006388,17804464,15572677,15542852,15489334,15164054,12509242,12477932,12446782,10848582,9806498,7788527,16385451 9937 NM_014881,AL592546,AY607842,CH471066,BC013124,BC062582,D42045 NP_055696,CAI12637,AAT09762,EAW49489,EAW49490,AAH13124,AAH62582,BAA07646,Q09LL8,Q6PJP8 Hs.1560 KIAA0086|PSO2|SNM1|SNM1A DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)|DNA cross-link repair 1A protein|DNA-crosslink repair gene SNM1|OTTHUMP00000020516|PSO2 homolog|SNM1 homolog A|hSNM1A protein-coding 1321192 DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM] 1580863 19197158,18593705,18469862,18468965,16730176,16730175,16710414,16606622,15572677,15489334,15467758,14702039,12477932,10848582,20655466,19411856 64858 NM_022836,AL137856,AY849379,CH471122,AF306690,AF306691,AF306692,AF306693,AK022872,AK024060,BC011950,BC029687,CR591475,CR936679,AI669133,DR005221 NP_073747,CAI19076,AAV97812,EAW56582,EAW56583,BAB14284,BAB14807,AAH29687,Q9H816 Hs.591412 APOLLO|DKFZp686C24187|FLJ12810|FLJ13998|SNM1B|SNMIB 5' exonuclease Apollo|DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)|DNA cross-link repair 1B protein|PSO2 homolog|SNM1 homolog B protein-coding 1348428 DCLRE1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA). [provided by RefSeq] 1580863,1601049 20610542,18034425,17932067,17242184,17169382,17121861,16874298,16857680,16600297,16093244,15936993,15811628,15731174,15723659,15574327,15574326,15489334,15468306,15456891,15164054,15071507,14744996,14726805,14702039,14628082,12921762,12592555,12569164,12477932,12406895,12177301,12055248,11955432,11336668,11181991,9443881,7566098,19398950,19075392,19075292,19074885,19022407,18270339,19423708,19692705,19779458,19859091,19953608,20003485,20496165,20522537 1601049 64421 NM_001033855,NM_001033857,NM_001033858,NG_007276,AL360083,CH471072,NM_022487,DQ504427,AF088055,AF395747,AF395748,AF395749,AF395750,AF395751,AF395752,AJ296101,AK021422,AK290598,AK307912,AW954867,BC000863,BC009185,BC022254,BC108276,BE799340,BX648858,AK022922,AK093757 NP_071932,NP_001029027,NP_001029029,NP_001029030,CAI40018,CAI40019,CAI40020,CAI40021,CAI40022,CAI40023,CAI40024,CAI40025,EAW86248,EAW86249,EAW86251,EAW86252,ABF47101,AAM53255,AAM53256,AAM53257,AAM53258,AAM53259,AAM53260,CAC37570,BAG52759,BAF83287,AAH00863,AAH09185,AAH22254,Q96SD1,BAG51137,EAW86250,BAB13820 Hs.656065 A-SCID|DCLREC1C|FLJ11360|FLJ36438|RS-SCID|SCIDA|SNM1C|hSNM1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)|DNA cross-link repair 1C protein|OTTHUMP00000019166|OTTHUMP00000019167|OTTHUMP00000019168|OTTHUMP00000019171|OTTHUMP00000019172|PSO2 homolog|SNM1 homolog C|SNM1-like protein|protein artemis|severe combined immunodeficiency, type a (Athabascan) protein-coding 1346102 DCN decorin The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to biglycan protein. The encoded protein and biglycan are thought to be the result of a gene duplication. This protein is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly. It contains one attached glycosaminoglycan chain. This protein is capable of suppressing the growth of various tumor cell lines. There are multiple alternatively spliced transcript variants known for this gene. This gene is a candidate gene for Marfan syndrome. [provided by RefSeq] 1580863,2298922,2311424,2311425,1598727,2311418,2311417,2311410,2311411,2311412,2311413,2311414,2311415,2311416,1600551,2311423,1598497 16583246,16467781,16434404,16258169,15994311,15949467,15923192,15811857,15785240,15671264,15652541,15489334,15336555,15291816,15209389,15147741,15147736,15016829,15016081,14660661,14633702,12853035,12730206,12601001,12482864,12477932,12387878,12372409,12187087,12176891,12106908,12105206,12071714,11979972,11879191,11723132,11598131,11185075,10793130,10747008,10382266,9988678,9895299,9675033,9435313,9328841,9252349,9148753,8889548,8440685,8432527,8432526,7798269,7638106,3597437,3484330,3194009,2647739,2590169,2375748,2374594,2211661,2059554,1968422,1611907,1550960,1468447,16835231,7961765,18029348,19212830,19036156,18830193,18638554,18620607,18514055,18505923,18436739,18413650,18413316,18373940,17952560,17651433,17558846,17516017,17396208,17335953,17286067,17146610,17097211,17067743,17046817,16989735,16938379,16935612,16902402,16844696,1431141,8093006,1544908,20546727,20484579,20398359,20707770,20357198,18621549,19433454,19453261,19589127,19590249,19590686,19616852,19678923,19684189,19737460,19834535,19864245,20026052,20360993,19913121,20591329,20628086,20628624,20644730 2298922,2311424,2311425,1598727,2311418,2311417,2311410,2311411,2311412,2311413,2311414,2311415,2311416,1600551,2311423,1598497 1634 NM_001920,NM_133503,NM_133507,NM_133505,NM_133504,NM_133506,NG_011672,AC007115,AF491944,CH471054,L01131,M98262,M98263,AF138300,AF138301,AF138302,AF138303,AF138304,AK291309,AL355731,BC005322,BG536640,BG538290,BM672011,BT019800,BX571756,CD689331,CR407676,CR541946,CR593276,CR595097,CR595819,CR596037,CR597299,CR598428,CR600448,CR601450,CR601529,CR601956,CR602747,CR605283,CR605408,CR607208,CR610969,CR611506,CR611956,CR612130,CR613049,CR613885,CR616358,CR621501,CR625941,CR626006,CR626398 NP_001911,NP_598010,NP_598014,NP_598012,NP_598011,NP_598013,AAL92176,EAW97450,EAW97451,EAW97452,EAW97453,EAW97454,EAW97455,EAW97456,EAW97457,EAW97458,EAW97459,EAW97460,AAA52301,AAB60901,AAD44713,AAF61437,AAD44714,AAF61438,AAD44715,BAF83998,AAH05322,AAV38603,CAE11881,CAG28604,CAG46744,P07585,Q6FH10,ABM83482,ABM86695 Hs.156316 CSCD|DSPG2|PG40|PGII|PGS2|SLRR1B PG-S2|bone proteoglycan II|decorin|decorin proteoglycan|dermatan sulphate proteoglycans II|proteoglycan core protein|small leucine-rich protein 1B protein-coding 1350050 DCP1A DCP1 decapping enzyme homolog A (S. cerevisiae) Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. [provided by RefSeq] 1580863 19150429,18513389,17081983,16364915,15489334,15302935,15231747,14702039,12927788,12515382,12477932,12417715,12023040,11836524,15937477,12766061,15146197,15231748,15324660,16344560,18029348,19615732,19812249 55802 NM_018403,AC097015,AC112218,CH471055,AB075507,AJ275986,AK001969,AK025344,AK094470,AK295205,AY146651,BC007439,BC016729,BX481349,CR602138,CR625787,BM016520,CA407150,CD676826,CN289842,DA568874,DA786683,DC371232 NP_060873,EAW65283,EAW65284,BAE45754,CAB77023,BAA92008,BAG58201,AAN62763,AAH07439,Q3LIB4,Q9NPI6,ABM84186,ABM87588 Hs.476353 FLJ21691|HSA275986|Nbla00360|SMAD4IP1|SMIF OTTHUMP00000212673|OTTHUMP00000212674|OTTHUMP00000212675|Smad4-interacting transcriptional co-activator|decapping enzyme hDcp1a|mRNA-decapping enzyme 1A|putative protein product of Nbla00360|transcription factor SMIF protein-coding 1348381 DCP1B DCP1 decapping enzyme homolog B (S. cerevisiae) DCP1B is a core component of the mRNA decapping complex, a key factor in the regulation of mRNA decay (Lykke-Andersen, 2002 [PubMed 12417715]).[supplied by OMIM] 1580863 15231747,16964243,15592455,15489334,15067023,14702039,12477932,12417715,15231748,19615732 196513 NM_152640,AC005342,CH471116,AK056200,AK299203,AK301109,AK310475,AW204088,AY146652,BC015368,BC043437,CR596230,CR620785 NP_689853,EAW88915,EAW88916,BAB71118,BAG61243,BAG62708,AAN62764,AAH15368,AAH43437,Q8IZD4 Hs.130934 DCP1|hDcp1b decapping enzyme hDcp1b|mRNA-decapping enzyme 1B protein-coding 1349747 DCP2 DCP2 decapping enzyme homolog (S. cerevisiae) DCP2 is a key component of an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM] 1580863 18172165,17207965,9490301,12417715,15231747,16364915,18361920,18039849,17081983,16756390,16699599,15937477,15489334,15273322,15067023,14702039,14527413,12923261,12768200,12515382,12486012,12477932,12218187,21070968 167227 NM_152624,AC008536,CH471086,AB002445,AK025019,AK090564,AK296361,AK311298,AY135173,AY146650,BC017965,BC045596,BC064593,BC068042,BX537716,BX648838,CR612463 ADQ32568,NP_689837,EAW48988,EAW48989,EAW48990,EAW48991,EAW48992,BAC03479,BAH12331,AAN08884,AAN62762,AAH45596,AAH64593,Q8IU60 Hs.443875 FLJ33245|NUDT20 OTTHUMP00000222834|OTTHUMP00000222835|OTTHUMP00000222836|hDpc|mRNA-decapping enzyme 2|nucleoside diphosphate-linked moiety X motif 20|nudix (nucleoside diphosphate linked moiety X)-type motif 20|nudix motif 20 protein-coding 1344529 DCPS decapping enzyme, scavenger 727225,1580863 20595579,16140270,18725266,18441014,18426921,15769464,15489334,15273322,15068804,14702039,14523240,12871939,12477932,12198172,11747811,11042152,9373149,8125298,17207965 727225 28960 NM_014026,AP001318,AY040773,CH471065,AF077201,AF532613,AK026554,AK090828,AK223089,AK307403,AY040771,AY077684,BC014532,CR606807,CR607221,CR616240 NP_054745,AAK91763,EAW67691,AAD26996,AAM90310,BAD96809,AAK91765,AAL77216,AAH14532,Q53G42,Q96C86,ADQ31697 Hs.504249 HINT-5|HSL1|HSPC015 DCS-1|heat shock-like protein 1|hint-related 7meGMP-directed hydrolase|histidine triad protein member 5|homolog of C. elegans 7meGMP-directed hydrolase dcs-1|mRNA decapping enzyme|scavenger mRNA-decapping enzyme DcpS protein-coding 1350850 DCR Down syndrome chromosome region 1829580 1637 1602181 DCST1 DC-STAMP domain containing 1 14702039,12477932 149095 NM_152494,NM_001143687,AF314227,AL451085,CH471121,AK057347,AK301876,AK301902,AK301935,BC064844,NG_027536 NP_689707,NP_001137159,AAS46286,CAI13270,CAI13271,CAI13272,EAW53143,BAB71440,BAG63312,BAG63330,BAG63355,AAH64844,Q5T197,Q5T199 Hs.567717 FLJ32785|RP11-307C12.10 DC-STAMP domain-containing protein 1|OTTHUMP00000038747 protein-coding 1606730 DCST2 DC-STAMP domain containing 2 18952287,16710414,16344560,15489334,14702039,12477932 127579 NM_144622,AL451085,CH471121,AA401747,AK057496,AK097468,AK097993,BC111794,DB025590 NP_653223,CAI13267,CAI13268,EAW53146,EAW53147,EAW53148,BAB71511,BAC05065,BAC05211,AAI11795,Q5T1A1,Q8N1J0,AAI66652 Hs.591491 FLJ32934|RP11-307C12.4 DC-STAMP domain-containing protein 2|OTTHUMP00000035492 protein-coding 1342702 DCT dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) 1580863 8206391,19284502,18674612,18312627,18206123,17766092,17200659,17081065,16857183,15856458,15489334,15342556,15057823,12843792,12643545,12559959,12477932,11851878,11777994,11549113,10886507,10079069,9743519,9540976,9480844,9356298,9176405,8976176,8950502,8898931,8530077,8306979,8267597,8148378,8126111,8088811,8040609,7929451,7858411,7855064,1537334,18337837,19855129,20221248,20356546,20520707 1638 DQ821667,DQ821668,DQ821669,DQ821670,DQ821671,DQ821672,DQ821673,DQ821674,DQ821675,DQ821676,DQ821677,DQ821678,DQ821679,DQ821680,DQ821681,DQ821682,DQ821683,DQ821684,DQ821685,DQ821686,DQ821687,DQ821688,DQ821689,DQ821690,DQ821691,DQ821692,DQ821693,DQ821694,DQ821695,DQ821666,DQ821696,DQ821697,DQ821698,DQ821699,DQ821700,L38953,AJ000503,AJ132932,AK293115,BC028311,BP221841,D17547,DQ902581,L18967,S69231,DQ821650,DQ821651,DQ821652,DQ821653,DQ821654,DQ821655,DQ821656,DQ821657,DQ821658,DQ821659,DQ821660,DQ821661,DQ821662,DQ821663,DQ821664,DQ821665,DQ821649,NM_001129889,AL139318,CH471085,D28767,DQ821585,DQ821586,DQ821587,DQ821588,DQ821589,DQ821590,DQ821591,DQ821592,DQ821593,DQ821594,DQ821595,DQ821596,DQ821597,DQ821598,DQ821599,DQ821600,DQ821601,DQ821602,DQ821603,NM_001922,DQ821631,DQ821632,DQ821633,DQ821634,DQ821635,DQ821636,DQ821637,DQ821638,DQ821639,DQ821640,DQ821641,DQ821642,DQ821643,DQ821644,DQ821645,DQ821646,DQ821647,DQ821648,DQ821605,DQ821606,DQ821607,DQ821608,DQ821609,DQ821610,DQ821611,DQ821612,DQ821613,DQ821614,DQ821615,DQ821616,DQ821617,DQ821604,DQ821618,DQ821619,DQ821620,DQ821621,DQ821622,DQ821623,DQ821624,DQ821625,DQ821626,DQ821627,DQ821628,DQ821629,DQ821630 ABG82126,ABG82127,ABG82128,ABG82129,ABG82130,ABG82131,ABG82132,ABG82133,ABG82134,ABG82135,ABG82136,ABG82137,ABG82138,ABG82139,ABG82140,ABG82141,ABG82142,ABG82143,ABG82144,ABG82145,ABG82146,ABG82147,ABG82148,ABG82149,ABG82150,ABG82151,ABG82152,ABG82153,ABG82154,ABG82156,ABG82157,ABG82158,ABG82159,ABG82160,AAC41925,CAA04137,CAB93530,BAF85804,AAH28311,BAA04484,ABI73976,AAA20870,AAC60627,O75767,P40126,ABG82155,Q09GT4,Q0PK43,Q9NQD8,ABM82392,ABM85575,ABG82109,ABG82110,ABG82111,ABG82112,ABG82113,ABG82114,ABG82115,ABG82116,ABG82117,ABG82118,ABG82119,ABG82120,ABG82121,ABG82122,ABG82123,ABG82124,ABG82125,NP_001913,NP_001123361,CAC19460,EAX08937,EAX08938,EAX08939,BAA05956,ABG82045,ABG82046,ABG82047,ABG82048,ABG82049,ABG82050,ABG82051,ABG82052,ABG82053,ABG82054,ABG82055,ABG82056,ABG82057,ABG82058,ABG82059,ABG82060,ABG82061,ABG82062,ABG82063,ABG82091,ABG82092,ABG82093,ABG82094,ABG82095,ABG82096,ABG82097,ABG82098,ABG82099,ABG82100,ABG82101,ABG82102,ABG82103,ABG82104,ABG82105,ABG82106,ABG82107,ABG82108,ABG82090,ABG82064,ABG82065,ABG82066,ABG82067,ABG82068,ABG82069,ABG82070,ABG82071,ABG82072,ABG82073,ABG82074,ABG82075,ABG82076,ABG82077,ABG82078,ABG82079,ABG82080,ABG82081,ABG82082,ABG82083,ABG82084,ABG82085,ABG82086,ABG82087,ABG82088,ABG82089 Hs.301865 TRP-2|TYRP2 DT|L-dopachrome Delta-isomerase|L-dopachrome tautomerase|TRP2|dopachrome delta-isomerase|tyrosinase-related protein 2 protein-coding 1349899 DCTD dCMP deaminase The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20028759,7685356,17602053,15592455,15489334,12477932,8448179,7642519,3627112,16189514,20665488 1635 NM_001012732,NM_001921,AC079766,CH471056,L39874,AK293135,AK310788,AK313221,BC001286,BC088357,BI544680,BQ228061,BU188090,CR591914,CR596540,CR604027,CR615419,L12136 NP_001012750,NP_001912,EAX04697,EAX04698,EAX04699,EAX04700,EAX04701,AAC37579,BAG56683,BAG36033,AAH01286,AAH88357,AAA35755,P32321 Hs.183850 MGC111062 OTTHUMP00000218780|OTTHUMP00000218783|OTTHUMP00000218789|deoxycytidylate deaminase protein-coding 1603060 DCTN1 dynactin 1 (p150, glued homolog, Drosophila) This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq] 20518521,9722614,15107855,1828535,17360970,14718566,19564404,19506225,19279216,19136952,18922795,18812314,18364389,18325928,18305234,18094236,18081319,17932487,17828277,17824900,17532294,17344930,16772339,16505168,16473624,16344560,16240349,16043481,15489334,15375157,15326253,15067220,14702039,14600259,14584027,14581450,14514668,12857853,12789661,12665801,12627231,12477932,12447383,12401177,12391026,12388762,12111331,12063394,11889140,11483508,11461920,11425872,11153697,11076968,12221128,12852856,16169070,16462731,17139249,18000879,19468067,19778315,19935774,20508983,7790358,20719959,10525537,10196146,10074429,9805007,9799602,9454836,9361024,9342383,9244444,9235942,8955163,8856662,8838327,8522607,8325901,7878030,10189366,8991093,12852857,17353931,15580264,10671518,20437543,20679239,20936779 1639 AB209625,AJ709213,AK055298,AK297286,AK314352,AK315014,BC006163,BC013978,BC071583,BT006758,BX640799,BX647925,BX647972,DA111497,DA417935,U73799,U90445,X98801,CA448857,DA315227,DC309469,NM_001190836,NM_001190837,NR_033935,NM_004082,NM_001135041,NM_023019,NG_008735,AC005041,AF064203,AF064204,AF064205,AF086947,CH471053,NM_001135040 EAW99687,BAD92862,BAG59757,AAH71583,AAP35404,CAE45882,CAH10575,CAH10572,AAB52575,AAD00701,CAA67333,O95654,Q14203,Q59F36,Q6AWB1,Q6AWB3,Q6IQ37,Q6LCB2,Q6MZZ3,ACE87197,ACE86518,NP_001177765,NP_001177766,NP_001128512,NP_004073,NP_001128513,NP_075408,AAD55811,AAD55812,AAD03694,EAW99684,EAW99685,EAW99686 Hs.516111 DAP-150|DP-150|HMN7B|P135 150 kDa dynein-associated polypeptide|OTTHUMP00000202490|OTTHUMP00000202491|OTTHUMP00000202530|OTTHUMP00000202531|OTTHUMP00000202532|dynactin 1 (p150, glued homolog, Drosophila)|dynactin subunit 1|p150, Glued homolog|p150-glued protein-coding 1352908 DCTN2 dynactin 2 (p50) This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. [provided by RefSeq] 1331348,1580863 8647893,18782227,18182012,17043677,16369996,16189514,16043481,15813749,15580264,15570572,15489334,15345747,15144186,14983524,14702039,12665801,12477932,12401177,11483508,11153697,10827182,10811826,10671518,10525537,9700164,9373149,8125298,11889140,16169070,10226031,20463029,17207965,11076968,12221128,12852856,16462731,17139249,19019082,7790358,20029029,20936779 1331348 10540 NM_006400,AC022366,AC022506,CH471054,AK055682,AK096242,AK098794,AK222693,AK292364,AK314705,AY189155,BC000718,BC009468,BC014083,CR590476,CR590859,CR591746,CR594105,CR594863,CR595014,CR600127,CR601888,CR603091,CR605291,CR606365,CR607554,CR607555,CR607770,CR608534,CR611056,CR610484,CR614051,CR614063,CR614215,CR614261,CR615764,CR619256,CR620231,CR622503,CR623357,CR625762,U50733 NP_006391,EAW97027,EAW97028,EAW97029,BAG51555,BAG53236,BAD96413,BAF85053,BAG37252,AAO34395,AAH00718,AAH09468,AAH14083,AAC50423,Q13561,Q53H88,ADQ31688 Hs.289123 DCTN50|DYNAMITIN|RBP50 50 kD dynein-associated polypeptide|50 kDa dynein-associated polypeptide|dynactin complex 50 kD subunit|dynactin complex 50 kDa subunit|dynactin subunit 2|p50 dynamitin protein-coding 1319944 DCTN3 dynactin 3 (p22) This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863 11076968,12221128,12852856,16462731,7790358,9722614,16713569,15489334,15164053,14702039,14667819,12477932,11306820,10671518 11258 NM_024348,NM_007234,AL160270,AL450283,CH471071,AF082513,AK055199,AK091661,AK314730,BC000319,BC003004,BC107697,BG715167,CR541889 NP_077324,NP_009165,CAI13143,CAI13144,CAI13145,CAI14179,CAI14180,CAI14181,CAI14182,EAW58439,EAW58440,EAW58441,EAW58442,AAC61280,BAC03716,BAG37272,AAH00319,AAH03004,AAI07698,CAG46687,O75935,Q5T1I6,Q8NB28,ABM82906,ABW03466 Hs.511768 DCTN-22|DCTN22|MGC111190 OTTHUMP00000021289|dynactin 3, isoform 1|dynactin complex subunit 22 kDa subunit|dynactin light chain|dynactin subunit 3|p22 protein-coding 736897 DCTN4 dynactin 4 (p62) 16554302,10671518,15489334,14702039,12477932,10843801,10074429,19109891 51164 NM_016221,NM_001135643,NM_001135644,AC008450,AC008453,CH471062,AF156165,AF195120,AK000299,AK125973,AK296787,AK299517,AK307757,AK311693,AL162085,BC026323,DC321382 NP_057305,NP_001129115,NP_001129116,EAW61706,EAW61707,EAW61708,EAW61709,AAF03896,BAA91066,BAG54272,BAG59365,BAG61469,CAB82417,AAH26323,Q9NSJ5,Q9UJW0,ABM83265,ABM86470 Hs.675564 dynactin 4|dynactin p62 subunit|dynactin subunit 4|dynactin subunit p62 protein-coding 1603378 DCTN5 dynactin 5 (p25) 17554300,16189514,15489334,15043994,14702039,12477932,10525537,16344560,20508983 84516 NM_032486,AC008870,CH471145,AK027387,AK126469,AK292843,AK299631,BC004191,CR745557,DA310703,DB087566,NM_001199011,NR_037573,XR_109270,XR_111651,XR_114982,CD388246,NM_001199743 NP_115875,EAW55808,EAW55809,EAW55810,BAB55077,BAF85532,BAG61559,AAH04191,Q9BTE1,NP_001185940,NP_001186672 Hs.435941 MGC3248|p25 dynactin 4|dynactin subunit 5|dynactin subunit p25 protein-coding 1316808 DCTN6 dynactin 6 The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq] 1580863 17207965,10525537,10318868,9168138,15489334,12477932,15043994 10671 NM_006571,AC026979,CH471080,AK314128,BC013175,CR456851,CR590871,CR593835,CR624991,D84145,BI562535,D79389 ADQ32806,NP_006562,EAW63466,BAG36818,AAH13175,CAG33132,BAA19984,O00399 Hs.158427 WS-3|WS3|p27 dynactin subunit 6|dynactin subunit p27|novel RGD-containing protein|protein WS-3 protein-coding 1601967 DCTPP1 dCTP pyrophosphatase 1 16169070,18029348,16189514,15740738,12477932,19596235 79077 NM_024096,AC116348,CH471192,AF210430,AF212242,AK024843,AY453409,BC001344,CR457335,CR599989,CR606515,CR614028,CR616490,CR620762,CR624207,CR624643 NP_077001,EAW52247,AAK48422,AAK14927,BAB15025,AAR26724,AAH01344,CAG33616,Q9H773 Hs.632191 CDA03|MGC5627|RS21C6|XTP3TPA XTP3-transactivated gene A protein|XTP3-transactivated protein A|dCTP pyrophosphatase 1|dCTPase 1|deoxycytidine-triphosphatase 1 protein-coding 1602219 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 12477932,10777668,17207965,19473369,18980971,18826954,17018598,16189514,15988528,15657565,15623817,15511464,15489334,15231748,15123463,14702039,12796399 54165 NM_020640,AC092953,CH471052,CS104944,CS185538,AF292100,AF456425,AF456426,AK025764,AK056335,AK126909,AK297328,AK314480,BC009478,BC013163,CD687300 ADQ32496,NP_065691,EAW78341,EAW78342,EAW78343,CAJ01275,CAJ42719,AAG00606,AAL78672,AAL78673,BAB15235,BAG51680,BAG59788,BAG37084,AAH09478,AAH13163,Q96GG9 Hs.104613 DCUN1L1|RP42|SCCRO|SCRO|Tes3 DCN1-like protein 1|DCUN1 domain-containing protein 1|OTTHUMP00000212784|RP42 homolog|defective in cullin neddylation protein 1-like protein 1|squamous cell carcinoma-related oncogene protein-coding 1323358 DCUN1D2 DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae) 16341674,15988528,15489334,15057823,14702039,12477932,17207965 55208 NM_001014283,AL160251,AL442125,CH471085,AK000099,AK001566,BC056669,BM836766 NP_001014305,CAI39428,CAI39429,CAI39777,CAI39778,CAI39779,EAX09210,EAX09211,BAA90944,BAA91760,AAH56669,Q6PH85,ADQ32128 Hs.369453 C13orf17|FLJ10704|FLJ20092 DCN1-like protein 2|DCUN1 domain-containing protein 2|chromosome 13 open reading frame 17|defective in cullin neddylation protein 1-like protein 2 protein-coding 1602987 DCUN1D3 DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) 15988528,12477932,10493829,18823379 123879 NM_173475,AC002394,CH471228,AK123719,AY364247,BC040442,BX648998,CR622365 NP_775746,EAW66842,BAG53946,AAQ76806,AAH40442,Q8IWE4 Hs.101007 44M2.4|DKFZp686O0290|FLJ41725|MGC48972 DCN1-like protein 3|DCUN1 domain-containing protein 3|defective in cullin neddylation protein 1-like protein 3 protein-coding 1604387 DCUN1D4 DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) 11256614,16381901,16344560,15988528,15489336,15489334,12477932,11230166,11076863,9039502 23142 NM_001040402,NM_015115,AC027271,CH471057,AK027051,AK124346,AK294894,AK294896,BC015240,BC041702,BC053897,BX537944,D87466,DA770685,DB199153 NP_001035492,NP_055930,EAX05424,EAX05425,EAX05426,EAX05427,EAX05428,BAG57986,BAG57987,AAH53897,CAD97912,BAA13405,Q92564,CAL37432,CAL37515,CAL37607,CAL38118 Hs.605388 FLJ42355|KIAA0276 DCN1-like protein 4|DCUN1 domain-containing protein 4|OTTHUMP00000218610|defective in cullin neddylation protein 1-like protein 4 protein-coding 1601949 DCUN1D5 DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) 15988528,15489334,14702039,12477932,16344560 84259 NM_032299,AP001486,CH471065,AK056993,AY364246,BC004169,BC021074,CR590369,CR596583,CR597372,CR599845,CR601995,CR602483,CR606085,CR606495,CR619246,CR625325,CR625928,AK094744,AK298227,DB039638 NP_115675,EAW67036,EAW67037,EAW67038,BAB71336,AAQ76805,AAH04169,Q9BTE7,BAG60496 Hs.503716 FLJ32431|FLJ37425|MGC2714 DCN1-like protein 5|DCUN1 domain-containing protein 5|defective in cullin neddylation protein 1-like protein 5 protein-coding 1348637 DCX doublecortin In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The protein encoded by this gene is a cytoplasmic protein which appears to direct neuronal migration by regulating the organization and stability of microtubules. The encoded protein contains two doublecortin domains, which bind microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene are a cause of X-linked lissencephaly. Multiple transcript variants encoding at least three different isoforms have been found for this gene. [provided by RefSeq] 1580863 11001923,19221293,18685874,18415660,17897623,17283321,17178868,17111359,17081983,16835924,16520969,16344560,16195916,15772651,15714065,15663475,15607950,15489334,15345747,15057976,15045646,14999500,14741103,14702039,14550532,12838518,12692530,12552055,12477932,12427674,12390976,12223548,12027577,11857568,11601509,11591131,11468322,11175293,10807542,10441340,10399933,10369164,9989615,9817918,9668176,9618162,9489700,9489699,9132485,20726879,20974813,17482550,19050731,19094064,19713529,19844571,16869982,20236041,17207965 1641 AF034634,AF040254,AF040255,AJ003112,AK002120,AK290455,AK297297,AU120758,BC027925,NM_178153,NM_178152,NM_178151,NM_000555,NG_011750,AJ005591,AJ005592,AL031117,AL450490,CH471120,NM_001195553,AK299822,AW163329,DA497601,DC375659 EAX02646,EAX02647,EAX02648,EAX02649,AAC52037,AAC31797,AAC31696,CAA05867,BAF83144,BAG59765,AAH27925,O43602,NP_835366,NP_835365,NP_835364,NP_000546,CAA06617,CAA19966,CAI43156,CAI39488,CAI39489,EAX02642,EAX02643,EAX02644,EAX02645,NP_001182482,BAG61691,ADQ32309 Hs.34780 DBCN|DC|FLJ51296|LISX|SCLH|XLIS OTTHUMP00000023860|OTTHUMP00000216316|doublecortex|doublin|lis-X|lissencephalin-X|neuronal migration protein doublecortin protein-coding 733826 DCXR dicarbonyl/L-xylulose reductase DCXR is an enzyme that has both diacetyl reductase (EC 1.1.1.5) and L-xylulose reductase (EC 1.1.1.10) activities (Nakagawa et al., 2002 [PubMed 11882650]).[supplied by OMIM] 632676,1580863 19337691,19027726,18086765,18079483,17576332,17434498,16847567,16616743,15906319,15489334,15103634,12680326,12665801,12477932,12136162,11882650,10385429,9373149,8125298,11752456,19615732 632676 51181 NG_027681,CB959852,CR619638,NM_016286,AC137723,CH471099,AA446582,AB013846,AF113123,AF139841,AF515623,AF515624,AF515625,AK226040,BC001470,BC003018,BT006881,AV653537,BG434209,NM_001195218 Q7Z4W1,NP_057370,EAW89732,EAW89733,BAB64299,AAF14864,AAP97273,AAN59786,AAO15991,AAM54026,AAH01470,AAH03018,AAP35527,NP_001182147 Hs.9857 DCR|HCR2|HCRII|KIDCR|P34H|SDR20C1 L-xylulose reductase|XR|carbonyl reductase II|diacetyl/l-xylulose reductase|human carbonyl reductase 2|kidney dicarbonyl reductase|short chain dehydrogenase/reductase family 20C, member 1|sperm surface protein P34H protein-coding 1601973 DDA1 DET1 and DDB1 associated 1 19295130,17557237,17452440,12477932,16949367,16964240,19615732,20562859 79016 AC010463,CH471106,AL832922,AY563006,BC000615,CR599345,CR609206,CR614550,CR620603,DQ090952,NM_024050 EAW84593,EAW84594,AAS66629,AAH00615,AAZ41375,Q9BW61,NP_076955 Hs.466154 C19orf58|MGC2594|PCIA1 DET1- and DDB1-associated protein 1|PCIA-1|cross-immune reaction antigen PCIA1|placenta cross-immune reaction antigen 1 protein-coding 1343347 DDAH1 dimethylarginine dimethylaminohydrolase 1 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq] 1625582,1580863 9874257,18292189,18251679,17895252,17881609,17273169,17075694,16920729,15781754,15501905,14702039,12477932,14638548,7608105,11811522,11546769,10950934,10691782,10493931,8982498,19663506,19666120,19682581,20877624,19913121,20628086,15489334,12441345,20010544,20019334,20167924,20209122,20379614,20381070 1625582 23576 NM_001134445,NM_012137,AC092807,AL078459,AL360219,CH471097,AK024917,AK026093,AK055626,AK098405,AK294752,AK302531,AK304876,AK309225,AK312432,AW051386,BC033680,BC036432,BC043235,BX648145,DC324361 NP_001127917,NP_036269,CAI22051,CAH70400,EAW73199,EAW73200,EAW73201,EAW73202,BAG57891,BAG63803,BAG65613,BAG35341,AAH33680,AAH43235,CAI45988,O94760,Q5HYC8 Hs.713411,Hs.727516 DDAH|FLJ21264|FLJ25539 DDAH-1|DDAHI|N(G),N(G)-dimethylarginine dimethylaminohydrolase 1|NG, NG-dimethylarginine dimethylaminohydrolase|dimethylargininase-1 protein-coding 1346413 DDAH2 dimethylarginine dimethylaminohydrolase 2 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq] 1304476,1580863 19060904,19666123,19822957,19851445,20010544,20209122,16130169,10493931,19250061,19143821,18342305,18251679,17002794,16920729,16189514,16021519,15489334,14656967,14574404,14550280,12477932,12370443,11042152,10950934,10691782,10384126,19913121,20628086,16928504,20936901 1304476 23564 AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AF070667,AF087894,AK026191,AK098671,BC001435,NM_013974,CR596804,CR597156,CR607100,CR616443 NP_039268,AAD18074,CAB46079,CAI18413,CAI18414,CAI17820,CAM45772,BAB63377,CAM26098,EAX03500,EAX03501,EAX03502,CAQ07022,CAQ10110,CAQ08895,AAD20973,AAP97193,AAH01435,O95865 Hs.247362 DDAH|DDAHII|G6a|NG30 DDAH-2|N(G),N(G)-dimethylarginine dimethylaminohydrolase 2|NG-dimethylarginine dimethylamino hydrolase homolog|OTTHUMP00000029307|OTTHUMP00000029310|OTTHUMP00000174488|OTTHUMP00000174489|S-phase protein|alternative name: NG30, G6a|dimethylargininase-2|dimethylarginine dimethylaminohydrolase II|protein G6a protein-coding 734016 DDB1 damage-specific DNA binding protein 1, 127kDa This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. [provided by RefSeq] 1580863 8407967,12732143,17088560,10583946,11673459,18593899,10214908,19276361,19208841,19109893,18936169,18703516,18606781,18524825,18524771,18381890,18332868,18289873,18235224,17626091,17620334,17609381,17360488,17079684,17041588,16964240,16951172,16949367,16940174,16861906,16861890,16678110,16537899,16473935,16413485,16407252,16407242,16227264,16223728,15767425,15489334,15009096,14739464,12743284,12477932,12388698,12151405,12050362,12034848,10777491,10574459,8798680,8538642,8530102,8171034,7815490,3175673,11564863,18794347,15882621,15448697,12107171,15231748,16169070,17148452,17392787,17643375,19557001,19723642,19818632,9418871,16036220,20562859,20395298,20347598 1642 NM_001923,AP003037,AP003108,AY960579,CH471076,AJ002955,AK294341,AK294493,AK299650,AK302924,AK303032,AK311476,AK312436,AL831958,BC011686,BC021044,BC032080,BC050530,BC051764,CD242268,CR610187,L40326,U18299,U32986 NP_001914,AAX44048,EAW73933,EAW73934,EAW73935,EAW73936,EAW73937,CAA05770,BAG57611,BAH11787,BAG61570,BAH13845,BAG64157,BAG35345,AAH11686,AAH50530,AAH51764,AAA62838,AAC50349,AAA88883,Q16531 Hs.290758 DDBA|UV-DDB1|XAP1|XPCE|XPE|XPE-BF DDB p127 subunit|DNA damage-binding protein 1|DNA damage-binding protein a|HBV X-associated protein 1|UV-DDB 1|UV-damaged DNA-binding factor|UV-damaged DNA-binding protein 1|XAP-1|XPE-binding factor|damage-specific DNA-binding protein 1|damage-specific dna binding protein 1|xeroderma pigmentosum group E-complementing protein protein-coding 1320906 DDB2 damage-specific DNA binding protein 2, 48kDa This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. [provided by RefSeq] 1601050,1580863 20013802,8407967,12732143,10583946,10214908,19428372,19339246,19237606,19109893,19064572,18936169,18806262,18593899,18431487,18089819,17967871,17660462,17630510,17357082,17081983,17041588,16678110,16527807,16522664,16473935,16344560,16260596,16223728,15882621,15644494,15489334,14751237,14702039,14560002,12944386,12812979,12553360,12496474,12477932,12151405,12050362,12034848,11971958,11852074,11673459,11564863,9418871,8798680,8602529,8530102,8350924,15856024,16951172,15811626,17207965,19759913,20819778,12107171,16949367,16964240,17392787,19056823,19541625,19615732,20368362,20522537,19714462,20398405,16713579,20562859 1601050 1643 NM_000107,NG_009365,AC018410,AC090589,AY220533,CH471064,AA278953,AB107037,AB107038,AB107039,AB107040,AK091640,AK313262,BC000093,BC050455,BT007139,CR598131,CR602652,CR611357,CR614544,CR623863,CR624926,DB053816,U18300 NP_000098,AAO25655,EAW67952,EAW67953,EAW67954,EAW67955,EAW67956,EAW67957,EAW67958,EAW67959,BAD12557,BAD12558,BAD12559,BAD12560,BAG36072,AAH00093,AAP35803,AAB07897,Q92466,ABM81645,ADQ32398 Hs.700338 DDBB|FLJ34321|UV-DDB2 DDB p48 subunit|DNA damage-binding protein 2|UV-DDB 2|UV-damaged DNA-binding protein 2|damage-specific DNA-binding protein 2|xeroderma pigmentosum group E protein protein-coding 734177 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1300048,1358586,1600876,1580863,4139904 16338639,12864730,19455600,19336370,19221445,19184136,19156168,19086053,19058789,19041269,18821565,18814238,18586020,18567514,18270970,18163388,17967881,17948905,17938636,17533144,17200166,17184203,16740595,16403819,15879433,15532536,15489334,15322424,15318031,15079002,14991824,12718431,12690205,12555230,12477932,12200739,12116187,11992572,11750071,10391209,8889548,8510497,7567987,2590185,1612608,1540578,1395716,1357595,20092830,19465909,19589383,19684603,19703902,19800137,19874574,19944766,20379614,20424616,20468064,19913121,20602615,20628086,15028279,20691427,20732903,20734064,21083670 1358586,4139904 1644 NM_001082971,NM_000790,NG_008742,AC018705,AY526322,CH236955,CH471128,L05075,M84592,S46516,AJ310724,AK298321,AK298392,AU310260,AW772056,BC000485,BC008366,BM713211,BT007009,CD013938,CR456724,CR612794,CR623782,M76180,M88700 NP_001076440,NP_000781,AAS01995,AAS00092,EAL23898,EAW60970,EAW60971,EAW60972,AAB59432,AAD40482,AAB23675,CAC84071,BAG60574,BAG60627,AAH00485,AAH08366,AAP35655,CAG33005,AAA58437,AAA20894,P20711,Q53Y41,Q5W5T9,Q6IBS8,ABW03755 Hs.359698 AADC OTTHUMP00000209022|OTTHUMP00000209025|OTTHUMP00000209026|aromatic-L-amino-acid decarboxylase|dopa decarboxylase protein-coding 1602895 DDEF1IT1 DDEF1 intronic transcript 1 (non-protein coding) 11042152 29065 NR_002765,AC009682,AF161539 Hs.639318 ASAP1IT|ASAP1IT1|DDEF1IT1|HSPC054|NCRNA00050 miscrna 1318429 DDHD1 DDHD domain containing 1 1580863 16806233,16368877,16344560,15489334,14702039,12477932,11214970,9488669,20359546 80821 NM_001160147,NM_001160148,AL352979,AL356020,CH471061,AB051492,AI871726,AK058137,AK091528,AK124546,AK125372,AK125556,AY173947,BC018014,BC030703,BY796571,DA212814,DQ315474,NM_030637,GU376468 NP_001153619,NP_001153620,EAW80621,EAW80622,EAW80623,EAW80624,BAB21796,BAB71679,AAO49717,AAH18014,AAH30703,ABC43196,Q2PNX9,Q2VYF2,Q8NEL9,NP_085140,ADB80245 Hs.125525 FLJ34209|FLJ42555|PA-PLA1 DDHD domain-containing protein 1|OTTHUMP00000178998|phosphatidic acid-preferring phospholipase A1 homolog|phosphatidic acid-preferring phospholipase A1-like protein|phospholipase DDHD1 protein-coding 1318138 DDHD2 DDHD domain containing 2 18029348,19330026,14702039,12477932,11788596,9872452,16344560 23259 AC084024,AC087362,CH471080,AB018268,AK023218,AK026961,AK056525,AK094951,AK125904,AK127040,AK299875,BC010504,CR590123,BI789108,BM510691,DA333302,DA412370,NM_001164232,NM_001164234,NM_015214 NP_056029,EAW63323,EAW63324,BAA34445,BAB14470,BAG51738,BAG54264,BAG54427,BAG61725,AAH10504,O94830,NP_001157704,NP_001157706 Hs.434966 KIAA0725|SAMWD1 DDHD domain-containing protein 2|PA-PLA1 like|SAM, WWE and DDHD domain containing 1|SAM, WWE and DDHD domain-containing protein 1|phospholipase DDHD2|sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1 protein-coding 1604424 DDI1 DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae) 19913121,20628086,16189514,15060002,14702039,12477932,17207965 414301 NM_001001711,AP003043,CH471065,AF429971,AK093336,BC021172,BC021710,BC022017,BC022018,DB449163,DB513526,HC006902 NP_001001711,EAW67047,AAP97303,BAC04135,AAH21172,AAH21710,AAH22017,AAH22018,Q8WTU0,CBH19256,ADQ31669 Hs.591941 FLJ36017 DDI1, DNA-damage inducible 1, homolog 1|DNA-damage inducible protein 1|protein DDI1 homolog 1 protein-coding 1603951 DDI2 DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae) 15146197,14702039,12838346,12477932,20379614 84301 NM_032341,AL121992,CH471167,AK057374,AK293006,AL598343,BC006011,BN000122,CN261722 NP_115717,CAI22369,EAW51740,EAW51741,EAW51742,EAW51743,BAF85695,AAH06011,CAD67552,Q5TDH0 Hs.718857 MGC14844|RP4-680D5.5 DDI1, DNA-damage inducible 1, homolog 2|DNA-damage inducible protein 2 (DDI2)|protein DDI1 homolog 2 protein-coding 1350925 DDIT1L DNA-damage-inducible transcript 1-like 1990262 1648 69165 DDIT3 DNA-damage-inducible transcript 3 1580863,1599729,1599731,1599736,1599726,1599728,1599745 16434966,20430872,20424162,18534616,18396163,18394432,18278507,17968315,17872950,17709599,17686866,17652152,17647282,17620318,17616685,17601350,17513780,17468515,17276738,17273769,17171638,16942595,16651630,16463383,16189514,16098044,16005964,1283316,16511829,20122151,8889549,7503811,8510758,14667815,1339368,19470730,19116245,19107326,19037087,18977241,18850010,18772138,18680108,18679584,18593935,18541659,15917187,15870698,15775988,15688424,15659384,15588942,15489334,15327748,15316935,15308577,15286712,15277326,15271854,15053923,15001576,14685163,14669326,14635187,14630918,12939601,12876286,12805554,12706815,12618752,12477932,12297725,12168790,12138118,12097650,12082616,12069855,12006103,11948400,11805088,10713066,10523647,8662954,8650547,8637704,8622660,2372777,1990262,1547942,16958678,18940792,19061639,19558691,19672300,19722195,19723703,19733664,19744850,19816510,19855386,20017906,20032083,20116099,20554776,20492726,20562859,20889551,20876114 1599729,1599731,1599736,1599726,1599728,1599745 1649 AA054097,BC107859,BM464290,BU664077,CN482428,NM_001195053,NM_001195054,NM_001195055,NM_001195056,NM_001195057,NM_004083,AC022506,AY880949,CH471054,AA476561,AI658803,AK316581,AV729744,AY461580,BC003637,BC064556,BT006691,CR616853,S40706,NG_027674 NP_001181982,NP_001181983,NP_001181984,NP_001181985,NP_001181986,NP_004074,AAW56077,EAW97021,EAW97022,EAW97023,BAG38169,AAH03637,AAP35337,AAB22646,P35638,Q53YD1,ACE87175,ACE86494 Hs.505777,Hs.728056 CEBPZ|CHOP|CHOP-10|CHOP10|GADD153|MGC4154 C/EBP homologous protein|C/EBP zeta|CCAAT/enhancer-binding protein homologous protein|DDIT-3|DNA damage-inducible transcript 3 protein|c/EBP-homologous protein 10|dna-damage inducible transcript 3|growth arrest and DNA damage-inducible protein GADD153|growth arrest- and DNA damage-inducible protein-coding 1346554 DDIT4 DNA-damage-inducible transcript 4 633979,737633 12453409,11256614,19221489,19114033,18953439,18796435,17307335,17005863,16713569,16381901,16341674,16258273,15988001,15632201,15592522,15489336,15180327,15146197,14646594,12477932,11230166,11076863,16169070,20473305,19210572,11884613,20374513,18029348,19127203,19557001,19996311,20166753,20354178 633979,737633 54541 CR591852,CR593814,CR594641,CR595139,CR595711,CR598151,CR598593,CR599296,CR599477,CR599579,CR600188,CR600907,CR601425,CR601977,CR608474,CR609436,CR610636,CR614476,CR616416,CR616560,CR619083,CR619259,CR621890,CR624887,AL683820,NM_019058,CH471083,AF335324,AK000507,AL136668,AY090097,BC000708,BC007714,BC015236,BE882343,BM843387,CN428398,CR590989 Q9NX09,CAL37485,ABM81910,ABM85085,NP_061931,CAH73863,EAW54452,EAW54453,AAL38424,BAA91214,CAB66603,AAM10442,AAH00708,AAH07714,AAH15236 Hs.712599 Dig2|FLJ20500|REDD-1|REDD1|RP11-442H21.1|RTP801 DNA damage-inducible transcript 4 protein|HIF-1 responsive RTP801 (RTP801)|HIF-1 responsive protein RTP801|protein regulated in development and DNA damage response 1 protein-coding 1342784 DDIT4L DNA-damage-inducible transcript 4-like 737633 16189514,15632201,15308555,14702039,12477932,12453409,16344560,19268525,19491193,17207965 737633 115265 NM_145244,AP001961,CH471057,AK094236,AK312926,AL832277,BC013592,DB208869 NP_660287,EAX06119,BAC04315,BAG35770,CAI46176,AAH13592,Q96D03,ADQ32412 Hs.480378 REDD2|Rtp801L DNA damage-inducible transcript 4-like protein|HIF-1 responsive protein RTP801-like|OTTHUMP00000219579|OTTHUMP00000219580|REDD-2|homolog of mouse SMHS1|protein regulated in development and DNA damage response 2|regulated in development and DNA damage response 2 protein-coding 1345220 DDN dendrin 19913121,20628086,18356187,12559952,12477932,9872452,8915891 23109 BC136398,BC136399,CR591956,NM_015086,AC011603,CH471111,AB018292,BC039264 AAI36399,AAI36400,O94850,NP_055901,EAW58031,BAA34469 Hs.591044 KIAA0749 dendrin protein-coding 1314668 DDO D-aspartate oxidase The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20201926,20564561,9163533,19125110,15489334,14574404,12477932,12209855,9820813,9148742,8187937,1991137,21608,20603179 8528 AB496420,NM_004032,NM_003649,AL050350,CH471051,AK293029,BC032786,CR590300,D89858 BAI44653,NP_004023,NP_003640,CAI42509,CAI42510,CAI42511,EAW48316,EAW48317,EAW48318,BAF85718,AAH32786,BAA14031,Q99489 Hs.591348 DASOX|DDO-1|DDO-2|FLJ45203 D-aspartate oxidase|OTTHUMP00000017003|aspartic oxidase protein-coding 1319052 DDOST dolichyl-diphosphooligosaccharide-protein glycosyltransferase This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq] 727247,1580863 9642163,17353931,15835887,19343046,15489334,15342556,15289604,12477932,10080935,9367678,7788527,16712791,20562859,19615732,19955485,20490454,7625827 727247 1650 AL391357,CH471134,D89060,AB062391,AK296041,AK297009,AK315633,BC002594,BP233191,CB137813,CB988524,CR591162,CR593467,CR593741,CR594607,CR595104,CR599123,CR600697,CR606279,CR607247,CR608166,NM_005216,CR609132,CR609695,CR610582,CR610703,CR612175,CR612841,CR617144,CR618307,CR618510,CR618795,CR619566,CR619937,CR622429,CR622568,CR624247,D29643 NP_005207,CAH73476,EAW94936,EAW94937,EAW94938,EAW94939,EAW94940,BAA23670,BAB93478,BAG58805,BAG59544,BAG38001,AAH02594,BAA06126,P39656,ABM82853,ABM86040 Hs.523145 AGE-R1|AGER1|KIAA0115|MGC2191|OK/SW-cl.45|OKSWcl45|OST|OST48|WBP1 DDOST 48 kDa subunit|advanced glycation endproduct receptor 1|dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit|dolichyl-diphosphooligosaccharide-protein glycosyltransferase|dolichyl-diphosphooligosaccharide-protein glycotransferase|oligosaccharyl transferase 48 kDa subunit|oligosaccharyltransferase 48 kDa subunit protein-coding 735912 DDR1 discoidin domain receptor tyrosine kinase 1 Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene is a RTK that is widely expressed in normal and transformed epithelial cells and is activated by various types of collagen. This protein belongs to a subfamily of tyrosine kinase receptors with a homology region to the Dictyostelium discoideum protein discoidin I in their extracellular domain. Its autophosphorylation is achieved by all collagens so far tested (type I to type VI). In situ studies and Northern-blot analysis showed that expression of this encoded protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, this protein is significantly over-expressed in several human tumors from breast, ovarian, esophageal, and pediatric brain. This gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1642301,1580863 9659899,8302582,8390675,19401332,19262089,18836851,18593464,18362184,18270328,18190796,18065762,18023033,17982627,17970783,17704737,17440927,17440435,17299390,17101694,17027969,17001518,16912190,16774916,16702430,16440311,16337946,16169070,15489334,15240533,15213330,15146197,15136580,15111304,14764702,14574404,12935821,12477932,11606478,11472367,11133186,11126911,10783152,9659900,9492013,17721511,9396043,8977099,8796349,8682498,8622863,8226977,8139570,7848919,7834423,7789998,7774938,10681566,20219323,20920467,20596615,20799954,19752756,19837266,19851445,20007060,20041166,20182441,20353877,20372823,20487506,20380825,20587610 1642301 780 AK130776,AK291621,AK294793,AK295643,BC008716,BC013400,BC070070,BI193181,BM875592,CN362335,CR605641,EU826613,EU826614,L11315,L20817,L57508,X74979,Z29093,AF353182,NM_001954,NM_013993,NM_013994,AB088102,AB103608,AB202100,AL662854,AL662870,AL773541,AL773589,AL805917,BA000025,BX927194,CH471081,CR753093,CR759747,CR936875,CR936908,CR942271,U48705,X98208,X99031,AB210021 AAK48842,BAC85426,BAF84310,BAH11886,BAH12138,AAH08716,AAH13400,AAH70070,ACF47649,ACF47650,AAA02866,AAA18019,AAB05208,CAA52915,CAA82335,Q08345,Q6ZNR9,Q96T62,NP_001945,NP_054699,NP_054700,BAC54935,BAF31270,BAE78621,CAI17433,CAI17434,CAI18441,CAI18442,CAI18450,CAI18451,CAI18533,CAI18534,BAB63318,CAQ09767,CAQ09768,EAX03335,EAX03336,EAX03337,EAX03338,EAX03339,EAX03340,EAX03341,EAX03342,EAX03343,EAX03344,EAX03345,EAX03346,CAQ06756,CAQ06757,CAQ07770,CAQ07771,CAX15129,CAX15130,CAX15131,CAX15132,CAX15133,CAX15134,CAX15135,AAC50917,CAA66871,BAE06103 Hs.631988 CAK|CD167|DDR|EDDR1|HGK2|MCK10|NEP|NTRK4|PTK3|PTK3A|RTK6|TRKE CD167 antigen-like family member A|OTTHUMP00000029343|OTTHUMP00000029344|OTTHUMP00000029345|OTTHUMP00000029346|OTTHUMP00000029347|OTTHUMP00000164863|OTTHUMP00000222080|PTK3A protein tyrosine kinase 3A|cell adhesion kinase|epithelial discoidin domain-containing receptor 1|mammary carcinoma kinase 10|neuroepithelial tyrosine kinase|neurotrophic tyrosine kinase, receptor, type 4|protein-tyrosine kinase RTK-6|tyrosine kinase DDR|tyrosine-protein kinase CAK protein-coding 1312254 DDR2 discoidin domain receptor tyrosine kinase 2 Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation, and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTKs have a tripartite structure with extracellular, transmembrane, and cytoplasmic regions. This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 20223752,8247548,8125298,7774938,1567394,1486804,9659899,19110212,18201965,17968949,17786355,17703188,17299390,16967187,16806867,16186108,16186104,15544808,15111304,14702039,12935821,12477932,11884411,11133186,9373149,8889549,20628624,19415460,19536175,20379614 4921 NM_006182,AL445197,AL596325,CH471067,AA148473,AK095975,AK225063,AK225196,AK314388,AY423733,AY871271,BC052998,BX640899,CF994640,X74764,NM_001014796,NG_016290 NP_001014796,NP_006173,CAI15939,CAI15940,CAI15941,CAI15942,CAI15943,EAW90713,EAW90714,BAG53183,BAG37013,AAS00496,AAX11427,AAH52998,CAE45946,CAA52777,Q16832,Q5J7V3,Q5T242,Q5T244,Q5T245,Q6MZT2,ACE87495,ACE86808 Hs.275757,Hs.593833 MIG20a|NTRKR3|TKT|TYRO10 CD167 antigen-like family member B|cell migration-inducing protein 20|discoidin domain receptor 2|discoidin domain receptor family, member 2|discoidin domain-containing receptor 2|hydroxyaryl-protein kinase|migration-inducing gene 16 protein|neurotrophic tyrosine kinase receptor related 3|neurotrophic tyrosine kinase, receptor-related 3|receptor protein-tyrosine kinase TKT|tyrosine-protein kinase TYRO10|tyrosylprotein kinase protein-coding 1320614 DDRGK1 DDRGK domain containing 1 17207965,17353931,15489334,12477932,11780052,20018847,20228063,20637204 65992 NM_023935,AL121891,CH471133,AF086090,AK310809,BC000643,BC007957,BC011851,CR625227 ADQ32742,NP_076424,CAD55939,CAD55940,EAX10543,EAX10544,AAH00643,AAH07957,AAH11851,Q96HY6 Hs.471975 C20orf116|MGC2592|dJ1187M17.3 DDRGK domain-containing protein 1|OTTHUMP00000030088 protein-coding 1353002 DDT D-dopachrome tautomerase D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq] 1580863 9480844,17353931,18684922,15489334,15461802,12823441,12665801,12477932,11997397,10591208,10079069,9729470,9716662,8267597,1286669,19913121,20628086 1652 NM_001355,NM_001084392,AF012434,AF058293,AP000351,CH471095,Y11151,AK292044,BC005971,BC015508,BT006970,CA414359,CR456431,U49785,U84143 NP_001346,NP_001077861,AAC77468,AAC13717,EAW59622,EAW59623,CAA72037,BAF84733,AAH05971,AAH15508,AAP35616,CAG30317,AAB48546,AAB41503,P30046,Q53Y51,CAK54422,CAK54721,ABM82497,ABM85691 Hs.656723 DDCT D-dopachrome decarboxylase|OTTHUMP00000198529|phenylpyruvate tautomerase II protein-coding 1625820 DDTL D-dopachrome tautomerase-like 19913121,20628086,16344560,14702039,10591208,9729470 100037417 AP000350,AP000351,AI686044,CR590354,CR606018,DB157727,NM_001084393,AK296110 NP_001077862,A6NHG4,BAG58859 Hs.715326 D-dopachrome decarboxylase-like protein|D-dopachrome tautomerase-like protein protein-coding 1351249 DDU dermo-distortive urticaria 6945804,7294069 29764 737232 DDX1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq] 1580863 15567440,15489334,12477932,12183465,11790298,11598190,10834319,10319407,8135819,1552844,15892970,16354571,7689221,17220478,18809582,19240061,18710941,17611020,17380054,17380053,17028906,15635413,15588285,18335541,19058135,19398953,20573827 1653 NM_004939,AC008278,CH471053,AK297432,AK298212,AK298426,AK313933,BC012132,BC012739,BC053673,CR598216,EF418570,EF418571,X70649 NP_004930,EAX00894,EAX00895,EAX00896,EAX00897,EAX00898,BAG59860,BAG60482,BAG60648,BAG36652,AAH12132,AAH53673,ABN70940,ABN70941,CAA49992,Q92499 Hs.440599 DBP-RB|UKVH5d ATP-dependent RNA helicase DDX1|DEAD box polypeptide 1|DEAD box protein 1|DEAD box protein retinoblastoma|DEAD box-1|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1|OTTHUMP00000115711|dead/h (asp-glu-ala-asp/his) box polypeptide 1 protein-coding 1319083 DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq] 1580863 8660968,18029348,17081983,15635413,15489334,12477932,11790298,10830185,10655059,10222653,9199348,9166830,15380516,19332556,19615732 1662 AP002453,AP003027,AP003387,CH471065,AB001343,AB040537,AB209884,AK296752,AK315216,BC049217,BC064921,BC091521,BC093654,BC093656,NM_004398,U28042 NP_004389,EAW67122,EAW67123,EAW67124,BAA20386,BAB18536,BAD93121,BAG59335,BAG37650,AAH49217,AAH91521,AAH93654,AAH93656,AAC50823,Q13206,Q59EC7,Q86VR6 Hs.591931 HRH-J8 DDX10-NUP98 fusion protein type 2|DEAD box protein 10|DEAD box-10|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)|probable ATP-dependent RNA helicase DDX10 protein-coding 1315426 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 9013641,18499658,17189189,17105772,15520935,15489334,14702039,12477932,10648783,8833153,8798685,8530100,16169070,20124417 1663 NM_152438,NM_004399,AC008013,CH471116,U35241,AK021703,AK297607,AK303139,BC001591,BC011264,BC012834,BC047317,BC050069,BC050522,BC111733,BC148224,NM_030653,CR590809,CR617012,U33833,U75967,U75968,U75969,X99583,NG_023352 NP_085911,NP_689651,NP_004390,EAW88576,EAW88577,EAW88578,EAW88579,EAW88580,EAW88581,EAW88582,EAW88583,AAA99060,BAG59990,BAG64243,AAH50069,AAH50522,AAI11734,AAB06962,AAB18749,AAB18750,AAB18751,CAA67895,Q2NKM7,Q93000,Q96FC9 Hs.443960 CHL1|CHLR1|KRG2|MGC133249|MGC9335 CHL1-like helicase homolog|CHL1-related helicase gene-1|CHL1-related protein 1|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)|DEAD/H box protein 11|KRG-2|hCHLR1|keratinocyte growth factor-regulated gene 2 protein|probable ATP-dependent RNA helicase DDX11 protein-coding 3231842 DDX11L1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1 12477932,19476624 100287102 AL627309,AM992871,AM992872,BC032353,XM_002342010 CAQ52933,CAQ52934,XP_002342051 Hs.714157 miscrna 3003937 DDX11L11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 11 19476624 100302090 AM992877,AM992881,XM_003118648,AC215219,XR_109128 CAQ52939,CAQ52943,XP_003118696 Hs.592089,Hs.644359 pseudo 2816623 DDX11L16 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 16 10655549,12477932,19476624 727856 AJ271736,AM992882,NG_006978 CAQ52944 Hs.618434 MGC75272 pseudo 3423179 DDX11L2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 12477932,14702039,16344560,19476624 84771 AK057285,AK093685,AK123946,AL078621,AM992870,BC005070,DA948568,NR_024004,NR_024005 CAQ52932 Hs.712940 FLJ41952|FLJ44010|MGC13005 miscrna 2859132 DDX11L3 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 3 19476624 100302657 AM992865 CAQ52928 pseudo 2859130 DDX11L4 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 4 19476624 100337622 AM992873,AM992866,NG_016472 CAQ52935,CAQ52929 pseudo 3129492 DDX11L5 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 5 19476624 100287596 AL928970,AM992874,NG_017126 CAQ52936 Hs.719844 pseudo 2902408 DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 8 19476624,16541075 100288406 AC215219,NG_017127 A8MPP1 pseudo 2902394 DDX11L9 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 9 19476624 100288486 NR_034090,AC140725,AM992875,AM992880 CAQ52937,CAQ52942 Hs.644359 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 9|DEAD/H box polypeptide 11 like 9 pseudo 1353019 DDX11P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 pseudogene 19476624 64496,100287029 AM992876,AM992879,XM_002343402 CAQ52938,CAQ52941,XP_002343443 Hs.592089,Hs.714157 DDX11L1|DDX11P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 pseudogene|DEAD/H box polypeptide 11 like 10 protein-coding 1352632 DDX12 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (CHL1-like helicase homolog, S. cerevisiae) 1580863 15252450,12477932,9013641,8833153 440081 NR_033399,AC092821,AC141557,BC035635,BC065494,DQ786301,U33834 AAB06963,Q92771 Hs.447869,Hs.504688 CHLR2 pseudo 1312679 DDX17 DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. 1580863 20663877,8871553,18005418,17699760,17226766,16964243,16344560,16189514,15489334,15461802,15635413,15342556,15324660,15298701,14559993,12477932,12193588,12138182,11675387,11250900,10591208,9747670,9110174,8619474,12738788,12171929,12595555,10837141,17643375,18334637,19059367,19718048,19902070,20085707 10521 NM_006386,NM_030881,NM_001098505,CH471095,Z97056,AA765457,AB209595,AF131750,AK024985,AK074224,AL080113,AL713763,NM_001098504,AU130891,BC029553,BC045747,BI545691,BP353248,CB215934,CR456432,CR591397,CR594526,CR608668,CR620697,CR625919,U59321,BC000595,AK303049 NP_001091974,NP_006377,NP_112020,NP_001091975,EAW60241,EAW60242,EAW60243,EAW60244,EAW60245,EAW60246,EAW60247,EAW60248,CAB09792,BAD92832,AAD20033,CAH10627,AAH00595,CAG30318,AAC50787,Q59F66,Q92841,Q9UQL5,CAK54423,CAK54722,BAG64169 Hs.725500,Hs.727678,Hs.528305 DKFZp761H2016|P72|RH70 DEAD box protein 17|DEAD box protein p72|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)|DEAD/H box 17|OTTHUMP00000199226|RNA-dependent helicase p72|probable ATP-dependent RNA helicase DDX17 protein-coding 1348568 DDX18 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq] 1580863 12665801,12477932,14702039,8861962,18351129,15489334,20689807,16169070 8886 AC009312,AC009404,CH471103,AB209392,AK001467,NM_006773,AK091227,BC001238,BC003360,BC024739,BU599536,BX538334,CR457060,CR606490,CR610124,X98743 NP_006764,AAY14819,AAX88947,EAW95192,EAW95193,EAW95194,BAD92629,BAA91709,BAC03616,AAH01238,AAH03360,AAH24739,CAG33341,CAA67295,Q4ZG72,Q53TI6,Q59FR7,Q8N254,Q9NVP1 Hs.363492 FLJ33908|MrDb ATP-dependent RNA helicase DDX18|DEAD box protein 18|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)|Myc-regulated DEAD box protein protein-coding 1351654 DDX18P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1 319099 NG_002480,AL391262 pseudo 2293115 DDX18P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 2 651053 NG_007648,AC092079 651053 pseudo 2289767 DDX18P3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 3 442164 NG_008706,AL138725 KIAA0161 pseudo 2289753 DDX18P4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 4 402222 NG_008705,AC008522 pseudo 2289764 DDX18P5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 5 9847074 646378 NG_008712,AC019227 pseudo 2301490 DDX18P6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 6 100131370 NG_008704,AL365434 pseudo 1349788 DDX19A DEAD (Asp-Glu-Ala-As) box polypeptide 19A 737633,1580863 16189514,15489334,14702039,12477932,9373149 737633 55308 NM_018332,BC137497,CR603645,CR749227,CH471241,AB209401,AK001988,AK094061,AK125701,AK223262,AK310604,AK310804,AK310808,AL832901,AL832970,BC005162,BC006544,BC025771,BC137496,AC012184,AK299504,AK299539 NP_060802,AAI37498,CAH18083,Q59FQ9,Q68DY7,Q69YM2,Q9NUU7,EAW51826,BAD92638,BAA92022,BAD96982,CAH10629,CAH10622,AAH05162,AAH06544,AAI37497,BAG61459,BAG61486 Hs.656037 DDX19-DDX19L|DDX19L|DKFZp686C21137|FLJ11126 ATP-dependent RNA helicase DDX19A|DDX19-like protein|DEAD (Asp-Glu-Ala-As) box polypeptide 19-like|DEAD box protein 19A|RNA helicase|dead (asp-glu-ala-as) box polypeptide 19-like protein-coding 1346558 DDX19B DEAD (Asp-Glu-Ala-As) box polypeptide 19B DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10428971,17353931,19244245,19219046,15489334,14702039,12219940,11230166,9373149,17207965,12477932,8125298,16169070,1424986,19615732,20098747 11269 AF353720,AJ237946,AK027378,AK223115,AK296868,AK301938,AK302107,AK316346,AL136639,BC003626,BC010008,BC110805,BI756088,CR457215,CR533509,CR593012,CR594442,CR604580,CR604732,CR625899,NM_007242,NM_001014451,NM_001014449,AC012184,CH471241 EAW51832,EAW51834,EAW51837,AAK40102,CAB52189,BAG51311,BAD96835,BAG59431,BAG63358,BAG63488,BAH14717,CAB66574,AAH03626,AAH10008,AAI10806,CAG33496,CAG38540,EAW51831,Q2NL95,Q53G16,Q96KE7,Q9UMR2,ACE87245,ACE86563,NP_009173,NP_001014451,NP_001014449,EAW51827,ADQ32729 Hs.221761 DBP5|DDX19|RNAh ATP-dependent RNA helicase DDX19|ATP-dependent RNA helicase DDX19B|DEAD box RNA helicase DEAD5|DEAD box protein 19B|DEAD-box RNA helicase DEAD5|DEAD-box protein 5|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)|dead (asp-glu-ala-as) box polypeptide 19|yeast Dbp5 homolog protein-coding 1320818 DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq] 1580863 10383418,10601333,10531003,19138993,18381463,16964243,16710414,16344560,16301532,15489334,15302935,14970384,14702039,14667819,12668731,12477932,12095920,12065586,12007404,11914277,11748230,11713266,11149922,10942426,10725331,9110174,8619474,11509230,17353931,11714716,20732906,20819778,20562859,20696395,20585341,20620147,14963109,15130578,18029348,19596235,20211803,20157854 11218 NM_007204,AL049557,CH471122,AF106019,AF155803,AF171063,AK001506,AK301697,AK314312,AL133598,AY007146,BC011556,BC031062,BC034953,CR617207,DB072947 NP_009135,CAB55686,EAW56507,EAW56508,AAD42744,AAK56799,AAF14544,BAA91727,BAG63169,CAB63734,AAG02003,AAH11556,AAH31062,AAH34953,Q8IYV2,Q8NEH0,Q8TDR3,Q9H4N4,Q9UHI6,ABM83175,ABM86375 Hs.591405 DKFZp434H052|DP103|GEMIN3 DEAD box protein 20|DEAD box protein DP 103|DEAD-box protein DP103|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD|SMN-interacting protein|component of gems 3|gemin-3|probable ATP-dependent RNA helicase DDX20 protein-coding 1312763 DDX21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq] 1580863 8614622,17353931,18180292,17081983,16565220,16045751,15635413,15489334,15302935,15164054,14559904,12477932,11891046,11823437,11790298,11237763,10860663,9177271,16385451,19710015,20800221 9188 NM_004728,AF261902,AF261903,AF261904,AF261905,AF261906,AF261907,AF261908,AF261909,AF261910,AF261911,AF261913,AF261914,AF261915,AF261916,AF261917,AL359844,CH471083,AB062394,AK025629,AK315585,BC004182,BC008071,BC009432,BC017228,BC104671,BU963561,BX648405,CR592690,CR596179,CR749598,U41387,AF261912 NP_004719,AAF78930,CAH72377,EAW54305,EAW54306,EAW54307,BAB93481,BAG37957,AAH08071,AAI04672,CAH18395,AAB02546,Q3SWU7,Q8NI92,Q9NR30,ABM84557,ABM87851 Hs.223141,Hs.576875 DKFZp686F21172|GUA|GURDB|RH-II/GU|RH-II/GuA DEAD box protein 21|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21|Gu protein|RH II/Gu|RNA helicase II/Gu alpha|gu-alpha|nucleolar RNA helicase 2|nucleolar RNA helicase Gu|nucleolar RNA helicase II protein-coding 1318600 DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq] 9774689,17353931,9539711,12226669,18425142,17081983,15635413,15489334,12477932,12090300,11991638,18954305,9409622,20308539,17643375,19615732 9416 AC117498,CH471111,AF026402,AK128428,AK292921,AK294877,AK312379,BC002366,CD709611,NM_004818 NP_004809,EAW58010,EAW58011,EAW58012,EAW58013,EAW58014,EAW58015,EAW58016,EAW58017,AAB87902,BAG54673,BAF85610,BAG57976,BAG35297,AAH02366,ABM85525,ABM82351,Q9BUQ8 Hs.130098 MGC8416|PRPF28|U5-100K|U5-100KD|prp28 100 kDa U5 snRNP-specific protein|DEAD box protein 23|PRP28 homolog, yeast|PRP28p homolog|U5 snRNP 100 kD protein|probable ATP-dependent RNA helicase DDX23 protein-coding 1353174 DDX24 DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq] 1580863 10936056,18029348,11256614,18289627,17081983,16964243,16381901,16169070,16051665,15635413,15489336,15489334,15302935,15014966,14702039,12477932,11230166,11076863,18954305,17353931,19615732,20237496 57062 NM_020414,AL079302,CH471061,AB209382,AF134475,AF145022,AF161446,AF214731,AK025162,AK294613,AK296726,AK297232,AK304504,AL136886,BC000778,BC008847,BC009406,BC096826,BX537533,CR596324,CR615921,CR619609,CR624535 NP_065147,EAW81550,EAW81551,EAW81552,BAD92619,AAP97252,AAP97274,AAF29006,AAG02169,BAB15079,BAG57797,BAG59314,BAG59715,BAG65312,CAB66820,AAH08847,AAH09406,AAH96826,Q4V9L5,Q59FS7,Q7Z4W0,Q7Z4X3,Q9GZR7,Q9P054,CAL38415,ABM84449,ABM87509 Hs.510328 ATP-dependent RNA helicase DDX24|DEAD box protein 24|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24|S. cerevisiae CHL1-like helicase protein-coding 1353633 DDX25 DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq] 68232,1580863 17889551,17848414,16293649,15489334,15094194,12477932,10608860,19536092,19875492,20378615 68232 29118 AK312772,BC031098,BC035388,BC050360,CD359894,CD657404,CR603268,CR604125,CR605679,NM_013264,AP000842,AY735312,CH471065,AF155140,AK295121 BAG58148,BAG35637,AAH35388,AAH50360,Q9UHL0,NP_037396,AAU84667,EAW67668,EAW67669,AAF21371 Hs.420263 GRTH ATP-dependent RNA helicase DDX25|DEAD box protein 25|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25|gonadotropin-regulated testicular RNA helicase protein-coding 1343446 DDX26B DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 16344560,15772651,15146197,14702039,12477932,20936779 203522 AI187071,AK096544,AK123209,AK126202,AK308423,AL833319,BC140715,BM455073,BQ044923,BX648113,CN343659,DB231166,CR936620,AL357834,NM_182540,AL391380,CH471107 EAX11727,BAC04813,BAC85559,AAI40716,Q5JSJ4,Q8N8M2,CAI56763,NP_872346,CAI40867,CAI40723,EAX11725,EAX11726 Hs.496829 DKFZp686G0470|FLJ41215|MGC88298 protein DDX26B protein-coding 1313779 DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, the function of which has not been determined. [provided by RefSeq] 1580863 17353931,15635413,15498874,15489334,14702039,12477932,11790298,11780052,9373149,8889548,8125298,16169070,20936779 55661 NM_017895,AL049766,AL357560,CH471077,AF193054,AF336851,AK000603,AK022979,AK025891,AK127128,AK223116,AK300135,AL512707,AL832131,AY044431,BC009304,BC011927,BC016060,BC104480,BC126287,BC130275,BC144125,BF026095,BM970582,CR613399,DB442175,EU718675 NP_060365,CAI22427,CAH70236,EAW75665,EAW75666,EAW75667,EAW75668,AAG22482,AAK21271,BAA91284,BAB14343,BAD96836,BAH13221,AAK95821,AAH09304,AAH11927,AAH16060,AAI04481,AAI26288,AAI30276,AAI44126,ACD91989,Q3MI07,Q53G15,Q96GQ7,ADR83262,ADR83300 Hs.65234 DKFZp667N057|DRS1|FLJ12917|FLJ20596|FLJ22238|HSPC259|MGC1018|MGC163147|PP3241|RHLP|Rrp3p|dJ686N3.1 DEAD box protein 27|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27|RNA helicase-like protein|probable ATP-dependent RNA helicase DDX27 protein-coding 1323712 DDX28 DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq] 1580863 18063578,16344560,15489334,14702039,12663657,12477932,11350955,10493829,8889548,11256614,20877624 55794 NM_018380,AC130462,AF329821,CH471092,AK002144,BC014517,BC024273,BM671594,CF993871,DA159162 NP_060850,AAG59833,EAW83206,BAA92106,AAH24273,Q9NUL7 Hs.458313 FLJ11282|MDDX28 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28|mitochondrial DEAD box protein 28|mitochondrial DEAD-box polypeptide 28|probable ATP-dependent RNA helicase DDX28 protein-coding 1312596 DDX31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 15635413,15489334,15164053,14702039,12782131,12477932,12429849,9373149,8125298 64794 NM_022779,NM_138620,AL160165,AL354735,CH471090,AF335567,AF335568,AF335569,AF427339,AK023695,AK027002,AK027484,AK225121,AK225350,AK302670,AK304715,BC012726,CR594429,HH961794 NP_073616,NP_619526,CAH70530,CAH70531,CAH70532,CAI16564,CAI16565,EAW88006,EAW88007,EAW88008,EAW88009,AAQ14888,AAQ14889,AAQ14890,AAL26549,BAB14644,BAB15620,BAB55146,BAG63903,BAG65479,AAH12726,Q9H8H2,AAI56833,CBX51370 Hs.660767 FLJ13633|FLJ14578|FLJ23349 DEAD box protein 31|DEAD/DEXH helicase DDX31|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31|G2 helicase|OTTHUMP00000022437|helicain|probable ATP-dependent RNA helicase DDX31 protein-coding 1350107 DDX39 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq] 727748,1580863 20562859,15047853,7601445,17548965,17196963,16949217,15635413,15489334,15338056,14702039,14667819,12477932,11979277,11790298,16189514,20610707,16341674,16344560,19615732 727748 10212 NM_005804,AC008569,CH471106,AK293911,AK301847,AL512698,BC001009,BC010455,BC032128,CR590674,CR592759,CR597385,CR599572,CR599681,CR600064,CR606167,CR608486,AB254849,CR609572,CR609792,U90426,BM792110,DA432925 NP_005795,EAW84414,EAW84415,EAW84416,EAW84417,BAG16272,BAG57295,BAG63290,CAH10601,AAH01009,AAH32128,EAW84418,AAB50231,O00148,Q69YT6,Q8N5M0,ABM82313,ABM85489 Hs.311609 BAT1|BAT1L|DDXL|MGC18203|MGC8417|URH49 ATP-dependent RNA helicase DDX39|DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 transcript|DEAD box protein 39|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39|UAP56-related helicase, 49 kDa|nuclear RNA helicase URH49|nuclear RNA helicase, DECD variant of DEAD box family protein-coding 1352934 DDX3X DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which interacts specifically with hepatitis C virus core protein resulting a change in intracellular location. This gene has a homolog located in the nonrecombining region of the Y chromosome. The protein sequence is 91% identical between this gene and the Y-linked homolog. [provided by RefSeq] 1580863 9381176,18377426,10329544,18029348,18845156,18636090,18628297,18596238,18583960,18264132,17855521,17667941,17631897,17357160,16818630,16341674,16301996,16097034,16094384,15592455,15588285,15507209,15489334,14743216,14729942,12477932,11710523,10859333,9730595,16354571,15516266,17353931,14559993,10336476,16712791,11256614,19782656,19793905,20127681,20657822,20837705 1654 NM_001356,AC073076,AL391647,CH471141,AB208983,AB451220,AB451343,AF000982,AF000983,AF061337,AF086430,AI698207,AK127902,AK291153,AK296906,AK297159,AK304661,AK304689,AK310891,AY776161,BC007668,BC011819,BC055083,BM454841,BM833870,CB107740,U50553,NM_001193416,NM_001193417,NG_012830 EAW59404,NP_001347,CAI41416,EAW59402,EAW59403,EAW59405,BAD92220,BAG70034,BAG70157,AAC51829,AAC51830,AAC34298,BAF83842,BAG59462,BAG59657,BAG65436,BAG65460,AAV52794,AAH11819,AAB95637,O00571,Q59GX6,Q5S4N1,NP_001180345,NP_001180346 Hs.727528 DBX|DDX14|DDX3|HLP2 ATP-dependent RNA helicase DDX3X|CAP-Rf|DEAD box protein 3, X-chromosomal|DEAD box, X isoform|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3|DEAD/H box-3|helicase like protein 2|helicase-like protein 2 protein-coding 1348882 DDX3Y DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it has a homolog on the X chromosome. The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting that this gene plays a key role in the spermatogenic process. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 18029348,18299450,17881721,15862967,15592455,15570572,15489334,15383328,15294876,15144186,15096539,12815422,12477932,11929796,11710523,11591417,10861003,9381176,10767340,17643375 8653 AK307884,AK310382,BC011022,BC034942,NM_004660,NM_001122665,AC004474,CH471155,AF000984,AF000985,AK296366,AK302172,AK303176,AK303638,NG_012831 AAH34942,O15523,NP_004651,NP_001116137,EAW91610,EAW91611,AAC51831,AAC51832,BAG59041,BAG63539,BAG64272,BAG64644 Hs.99120 DBY ATP-dependent RNA helicase DDX3Y|DEAD box protein 3, Y-chromosomal|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome protein-coding 1318770 DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. [provided by RefSeq] 1580863 18805576,18534994,17486274,15489334,14736746,14702039,12477932,11850529,10920202,14648869,16344560,19629140,19937754 54514 NM_024415,NM_001142549,AC016632,AC016639,CH471123,AF262962,AK093439,AK292417,AK308300,AL137462,AY004154,BC030638,BC047455,BC088362,DB457419,DB508256,HC006904,BI559479,DB022413,DB051674,NM_001166533,NM_001166534 NP_077726,NP_001136021,EAW54929,AAF72705,BAG52716,BAF85106,CAB70750,AAF86585,AAH47455,AAH88362,Q9NQI0,CBH19257,NP_001160005,NP_001160006 Hs.223581 MGC111074|VASA DEAD box protein 4|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4|OTTHUMP00000221766|OTTHUMP00000221767|OTTHUMP00000221796|probable ATP-dependent RNA helicase DDX4|vasa homolog protein-coding 1323380 DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [provided by RefSeq] 1580863 17353931,10607561,17081983,16565220,15690390,15635413,15489334,15302935,14702039,12477932,11991638,9373149,8125298,17474147,18029348,19615732 51428 AC145098,CH471195,CQ859814,AF195417,AK001255,NM_016222,AK026117,AK027768,AK091545,AK091774,AK092585,AK222598,AK310525,AK315491,AL137455,BC015476,BC067902,BX641072,CR606489,CR614266,CR614346,CR618460 NP_057306,EAW84977,EAW84978,EAW84979,EAW84980,EAW84981,CAH25957,AAF04150,BAA91585,BAB55355,BAG52414,BAD96318,BAG37875,CAB70746,AAH15476,CAE46035,Q53HI2,Q9UJV9 Hs.484288 ABS|MGC8828 2900024F02Rik|DEAD box protein 41|DEAD box protein abstrakt homolog|DEAD-box protein abstrakt|OTTHUMP00000223824|probable ATP-dependent RNA helicase DDX41|putative RNA helicase protein-coding 1312619 DDX42 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 18588927,17081983,16397294,15489334,15345747,14702039,18029348,12477932,12234937,10727850,16169070,17643375,19377511 11325 NM_007372,NM_203499,AC015651,CH471109,AB036090,AF083255,AK001964,AK095772,AK122737,AK126480,AK292908,AL050096,AL527653,AL545851,BC008208,BC015505,BC078667,BC093081,BK000566,CR606414,CR617579 NP_031398,NP_987095,EAW94276,EAW94277,EAW94278,BAC66466,AAC32396,BAG50996,BAG53126,BAG53696,BAG54335,BAF85597,CAB43268,AAH08208,AAH15505,AAH78667,AAH93081,DAA00077,Q86XP3 Hs.702010 FLJ43179|RHELP|RNAHP|SF3b125 ATP-dependent RNA helicase DDX42|DEAD box protein 42|RNA helicase-like protein|RNA helicase-related protein|SF3b DEAD box protein|SF3b125 DEAD-box protein|splicing factor 3B-associated 125 kDa protein protein-coding 1345973 DDX43 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq] 1580863 10919659,11256614,17487488,17296563,16381901,16344560,15489336,15489334,12890744,12477932,11230166,11076863,20058853 55510 NM_018665,AC019205,CH471051,AJ278110,AK303324,AK313686,AL136751,BC056879,BC066938,BQ020439,BX646425,DA453913 NP_061135,EAW48770,CAB92442,BAG64390,BAG36435,CAB66685,AAH66938,Q9NXZ2,CAL38376 Hs.125507 CT13|DKFZp434H2114|HAGE DEAD box protein 43|DEAD box protein HAGE|DEAD-box protein 43|cancer/testis antigen 13|helical antigen|probable ATP-dependent RNA helicase DDX43 protein-coding 734266 DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. [provided by RefSeq] 1580863 18391951,17081983,15489334,15302935,14713954,12477932,12234937,9872452,8889548,17643375,19902070 9879 NM_014829,AC010301,CH471062,AB018344,AF106680,AI003503,AK058058,AK126011,AK291788,BC012304,BC030755,BC105598,BF244218,BK000565,BX647426,CA314463,CB052404 NP_055644,EAW62238,EAW62239,EAW62240,EAW62241,EAW62242,BAA34521,AAD43033,BAF84477,AAH12304,AAI05599,DAA00076,Q0VGL8,Q7L014 Hs.406549 FLJ25329|KIAA0801|MGC9936|PRPF5|Prp5 DEAD box protein 46|PRP5 homolog|Prp5-like DEAD-box protein|RNA helicase|probable ATP-dependent RNA helicase DDX46|rna helicase protein-coding 1321338 DDX47 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 16381901,15977068,15635413,15489336,15489334,15102925,14702039,12477932,12429849,11230166,11076863,9373149,8125298,11024137,11256614,18029348,18482256,19615732,19710015 51202 NM_016355,NM_201224,AC007215,CH471094,AF078843,AF190165,AJ276704,AK054574,AK222940,AK225144,AK310501,AL136666,AL833469,BC009379,BC068009,CR599748,CR609545,CR613162,CR619384,CR620828,CR621488,CR621735,CR623905,CR623990,EF036507,AK302536 NP_057439,NP_957518,EAW96277,EAW96281,EAW96283,AAF23354,AAQ13709,CAC14786,BAB70762,BAD96660,CAB66601,AAH09379,AAH68009,ABO65093,A0AVN6,Q53GJ1,Q7Z4B1,Q9H0S4,Q9H4E3,Q9UI98,CAL38198,CAL38590,BAG63808 Hs.719938 DKFZp564O176|E4-DBP|FLJ30012|HQ0256|MSTP162|RRP3 DEAD box polypeptide 47|DEAD box protein 47|E4-DEAD box protein|probable ATP-dependent RNA helicase DDX47 protein-coding 1322415 DDX49 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 1580863 15489334,15057824,14702039,12477932,11790298,9373149,8125298,16169070,15342556,16344560,17207965 54555 BX647408,CR591567,CR598806,CR604480,CR605029,CR605206,CR605744,CR609065,CR612560,CR623471,CR625335,AC002985,CH471106,AK001294,AK223294,AK291916,AL110272,AL137702,BC000979,BC002674,NM_019070,HB905800,HB919032,HB926276,HB943136,HB954386,HC963209,HC976441,HC983685,HD000546,HD011796,HH961784,AU148229,BP252678,DA136213,NR_033677 Q69YV6,Q9NVY6,Q9Y6V7,AAH02674,Q9BVQ8,NP_061943,AAB81544,EAW84758,EAW84759,EAW84760,EAW84761,BAA91606,BAD97014,BAF84605,CAH10729,CAH10707,AAH00979,CBF85090,CBF94524,CBF98080,CBG06329,CBG11847,CBV01569,CBV08044,CBV11600,CBV19851,CBV25361,CBX51365,ADQ32774 Hs.143187 FLJ10432|R27090_2 DEAD box protein 49|probable ATP-dependent RNA helicase DDX49 protein-coding 1345493 DDX5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a RNA-dependent ATPase, and also a proliferation-associated nuclear antigen, specifically reacting with the simian virus 40 tumor antigen. This gene consists of 13 exons, and alternatively spliced transcripts containing several intron sequences have been detected, but no isoforms encoded by these transcripts have been identified. [provided by RefSeq] 1580863 1996094,17220478,17353931,18377426,2451786,19224332,19171422,18829551,18794152,18239468,18005418,17724023,17699760,17540040,17384675,17369852,17018282,16697732,16344560,15950181,15927448,15782174,15660129,15635413,15592455,15489334,15464984,15304501,15298701,14702039,12738788,12665590,12527917,12477932,12101238,11991638,11790298,11279182,11250900,10837141,10648785,7774924,7525583,2762324,2349099,18954305,10409727,15113910,12595555,17011493,18029348,20966046,17643375,18809582,19718048,20022962,20085707,20124720,20663877,19454010,20818423 1655 NM_004396,AC009994,AC138744,AF015812,AJ010931,CH471109,AB209919,AB451257,AB451382,AK055995,AK297192,AK297753,AK297905,AK310318,AL133585,BC016027,BT006943,BX571764,CR598090,CR607012,DA191631,X15729,X52104,AC234063 NP_004387,AAB84094,CAA09408,EAW94202,EAW94203,BAD93156,BAG70071,BAG70196,BAG59680,BAG60103,BAG60224,AAH16027,AAP35589,CAE11890,CAA33751,CAA36324,P17844,Q59E92,Q7Z2V5,ABM81613,ABM84700 Hs.279806 DKFZp434E109|DKFZp686J01190|G17P1|HLR1|HUMP68|p68 ATP-dependent RNA helicase DDX5|DEAD box protein 5|DEAD box-5|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)|RNA helicase p68|probable ATP-dependent RNA helicase DDX5 protein-coding 1322118 DDX50 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq] 1580863 11790298,18615715,17081983,15635413,15489334,12477932,12429849,11891046,9373149,8125298 79009 AK223297,AK293577,AK301431,AL137423,BC000210,BC000272,NM_024045,AL359844,CH471083,AF334103,BC014263,BC018637,CR618753,CR620490 BAD97017,BAG57047,BAG62959,CAB70733,AAH00210,AAK29402,NP_076950,CAH72376,EAW54304,AAH00272,AAH18637,Q53FI9,Q9BQ39,Q9NTA9,ABM83473,ABM86684 Hs.522984 GU2|GUB|MGC3199|RH-II/GuB ATP-dependent RNA helicase DDX50|DEAD box protein 50|RNA helicase II/Gu beta|gu-beta|nucleolar protein GU2 protein-coding 2289773 DDX50P1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 1 11891046 192146 NG_001065,AL121653 RH-II/GuBp1 pseudo 2289771 DDX50P2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 2 11891046 166070 NG_001064,AC018452 RH_II/GuBp2 pseudo 1319993 DDX51 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 17081983,15489334,15302935,14702039,12477932,11790298 317781 NM_175066,AC138466,CH471054,AK097078,AL079273,BC012461,BC029279,BC040185,BC063603,CR936870 NP_778236,EAW98543,BAC04942,AAH12461,AAH40185,Q8N8A6,CAI59782 Hs.445168 DKFZp686N2081|MGC42193 ATP-dependent RNA helicase DDX51|DEAD box protein 51|Dead box protein 73D-like protein-coding 1349454 DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 1580863 16344560,15635413,15489334,14702039,12477932,12429849,11790298,11124703 11056 NM_152300,AC091199,CH471199,AB208938,AF077033,AJ010840,AK001245,AK001652,AK025721,AK027425,AK093661,AU132775,BC006489,BC012557,BC041785,BG777332,BX492013,CR613865,NM_007010,DA356164 NP_008941,NP_689513,EAW57599,EAW57600,EAW57601,BAD92175,AAD27766,CAA09374,BAG50877,BAA91812,BAG51319,AAH41785,Q59H21,Q9Y2R4 Hs.590937 HUSSY19|ROK1 ATP-dependent RNA helicase ROK1-like|DEAD box protein 52|probable ATP-dependent RNA helicase DDX52 protein-coding 1604977 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 20531469,18388483,17341616,17028776,15489334,12849980,12477932,11922625,20534591,20932654 168400 NG_021439,NM_182699,AC117517,CH471074,AY039237,BC051703,BC067878,HC044667 NP_874358,EAW98990,AAK72102,AAH51703,AAH67878,Q86TM3,CBH30663 Hs.434416 CAGE|CT26 DEAD box protein 53|DEAD-box protein CAGE|cancer-associated gene protein|cancer/testis antigen 26|probable ATP-dependent RNA helicase DDX53 protein-coding 1354287 DDX54 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq] 1580863 15489334,12477932,12429849,11790298,18954305,15635413,12466272,17081983,16260042 79039 NM_001111322,NM_024072,AC089999,CH471054,AF478457,AY148094,BC001132,BC001848,BC005848 NP_001104792,NP_076977,EAW98039,EAW98040,AAL85336,AAN59978,AAH05848,Q8TDD1,Q9Y5L6,AAI56670 Hs.506861 DP97|MGC2835 ATP-dependent RNA helicase DDX54|ATP-dependent RNA helicase DP97|DEAD box RNA helicase 97 kDa|DEAD box helicase 97 KDa|DEAD box protein 54 protein-coding 1323439 DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been confirmed. 1580863 15635413,15489334,12477932,10997877,1552844 57696 NM_020936,AC055713,AC117503,CH471054,AB046815,AK074219,AK131442,AK307384,AL833756,BC030020,BC035911,BU619784,CR591246,AK301043 NP_065987,EAW98419,EAW98420,EAW98421,EAW98422,EAW98423,BAB13421,BAB85021,CAH56233,AAH30020,AAH35911,Q8IYH0,Q8NHQ9,Q8TEC9,BAG62656 Hs.286173 FLJ16577|KIAA1595|MGC33209 ATP-dependent RNA helicase DDX55|DEAD box protein 55 protein-coding 1349129 DDX56 DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. [provided by RefSeq] 1580863 16341674,10749921,17353931,15635413,15489334,15231747,14702039,12690205,12477932,12429849,11891046,11790298,11593297,11230166,9373149,8125298,16169070,11256614 54606 NM_019082,AC004938,CH236960,CH471128,AF247666,AJ131712,AK022774,AK125595,AK222662,AK309276,AK315363,AL136700,BC001235,BM787430,CR457213,CR589971,CR596036,CR596212,CR601138,CR610592,CR614921,CR618912,CR620751,CR623928,CR625237 NP_061955,EAL23752,EAW61093,EAW61094,EAW61095,AAG36876,CAB87992,BAB14238,BAD96382,CAB66635,AAH01235,CAG33494,Q53HB9,Q9NY93,ABM82141,ABM85324 Hs.654762 DDX21|DDX26|NOH61 61-kd nucleolar helicase|ATP-dependent 61 kDa nucleolar RNA helicase|DEAD box protein 21|DEAD box protein 56|DEAD-box RNA helicase|OTTHUMP00000207711|OTTHUMP00000207714|probable ATP-dependent RNA helicase DDX56|putative nucleolar RNA helicase protein-coding 1319812 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq] 1580863 20167631,20492658,20595247,17053203,17093192,17403696,17516545,18268020,18550535,18632970,18635538,18650396,18684960,18849341,18977754,18981155,19122199,19154402,19324880,19615405,20400512,20403326,20581823,20511549,20639488,20519382,21068236,20410276,16177806,19620789,19591957,19576794,19478455,19454678,19454348,19374189,19374188,19234166,19201382,19193793,19164550,19044019,19017631,18948594,18617992,18446221,18258269,18250407,18242112,18214119,18021446,17911629,17878351,17600090,17541283,17307033,17190814,17182220,17079289,17038590,17038589,16946700,16797201,16707574,16585524,16306043,16188996,16182584,16153868,16127453,16125763,16116171,16009940,15767399,15737993,15708988,15612946,15370293,15297736,15219805,15208624,15181474,15164053,14702039,12477932,11890704,18636086,20406818,18428149,16281057,17392790,17719635,18243112,18724357,19419966,19484123,19574455,19609254,19628239,19628240,19631370,19846522,19859543,19890046,19893624,19902255,19922606,19948350,20001730,20007272,20034464,20042593,20130065,20144762,20331378,19881509,20805493,11002417 23586 AL161783,AL353671,CH471071,AA862613,AF038963,AK023661,AK125989,AK301678,AK315040,AL137608,BC070029,NM_014314,BC132786,BC136610,BX647917,DN998145,BC107731 NP_055129,CAH72600,CAH71251,EAW58547,EAW58548,AAD19826,BAG51213,BAG54273,BAG63151,CAB70840,AAI07732,AAI32787,AAI36611,CAI46068,O95786,Q3B797 Hs.190622 DKFZp434J1111|DKFZp686N19181|FLJ13599|RIG-I DEAD box protein 58|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide|OTTHUMP00000115910|RIG-1|RNA helicase RIG-I|probable ATP-dependent RNA helicase DDX58|retinoic acid inducible gene I|retinoic acid-inducible gene 1 protein|retinoic acid-inducible gene I protein protein-coding 1606490 DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 15489336,15489334,12477932,11230166,11076863,11256614,16710414,16381901 83479 AK307569,NM_001031725,AL445483,CH471067,AK299219,AL136611,BC014183,BC020201,BC041801,BU754283,CR607985,DB483119 NP_001026895,CAI17050,CAI17051,CAI17054,CAI17056,CAI17057,EAW91318,EAW91319,BAH12972,CAB66546,AAH14183,AAH41801,Q5T1V5,Q5T1V6,Q5T1W1,CAL38329,CAL38423 Hs.497332 DKFZp564B1023|RP11-92G12.2|ZNHIT5 DEAD box protein 59|probable ATP-dependent RNA helicase DDX59|zinc finger HIT domain-containing protein 5 protein-coding 1349712 DDX6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. [provided by RefSeq] 1580863 17392519,19297524,19285948,18769115,17353931,16756390,16699599,16611246,16364915,16344560,15489334,14702039,14684915,12823589,12477932,11839790,10360675,10319407,8816452,7614484,1394235,17207965,1579499,20392846,18378046,20158304,20884783 1656 NM_004397,AP002954,AP004609,CH471065,AI265778,AK093657,AK313244,BC026228,BC039826,BC065007,D17532,DA993470,Z11685,AK021715,HC879394,HD033103 ADQ32638,NP_004388,EAW67412,EAW67413,BAG36055,AAH39826,AAH65007,BAA04482,P26196,Q8IV96,CBM42913,CBV35646 Hs.408461,Hs.723602 FLJ36338|HLR2|P54|RCK ATP-dependent RNA helicase p54|DEAD box protein 6|DEAD box-6|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)|oncogene RCK|probable ATP-dependent RNA helicase DDX6 protein-coding 1604355 DDX60 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 9373149,14702039,12477932 55601 NM_017631,AC068989,AC093888,CH471056,CQ888129,AK000042,AK001649,AK026333,AK223184,AK225191,AK307404,AL137464,BC007820,BC020601,BC038115,BC074781,BX648655,CR620318 NP_060101,EAX04806,EAX04807,EAX04808,EAX04809,CAH61673,BAA90901,BAA91809,BAB15451,BAD96904,CAB70751,AAH07820,AAH20601,AAH38115,AAH74781,CAE46197,Q53FU7,Q6B0F7,Q6MZF7,Q8IY21,Q9H616,Q9NT91,Q9NXV7 Hs.591710 FLJ10787|FLJ20035 DEAD box protein 60|probable ATP-dependent RNA helicase DDX60 protein-coding 2289775 DDX60L DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 16344560,14702039,20708005 91351 NM_001012967,AC079926,AC093888,AK023530,AK023743,AK055595,AK092461,AK096369,AL832950,CR933601,DA553350,EB710202 NP_001012985,BAB70966,CAI45925,Q5H9U9 Hs.535011 DKFZp781D1175|FLJ13468|FLJ31033|FLJ39050 DEAD box protein 60-like|OTTHUMP00000220185|OTTHUMP00000220186|probable ATP-dependent RNA helicase DDX60-like protein-coding 1350251 DDX6P DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene 387034,442192 AL662781,AL662857,NG_021115,BX005133,BX927232,CR753509,CR759808 DDX6-Lp|DDX6P|bA150A6.3 pseudo 3102883 DDX6P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene 2 100130117 BX088568,NG_022972 pseudo 1352368 DDX7 DEAD (Asp-Glu-Ala-Asp) box polypeptide 7 8135819 338453 Q15320 D26528 731970 DEAF1 deformed epidermal autoregulatory factor 1 (Drosophila) 728204,1580863 9773984,18826651,16467535,15489334,15302935,15161925,12477932,11705868,11427895,10521432,9417089,8889548,16169070,11751867,20368287,18561871,19565498,19668219,20226168 728204 10522 NM_021008,AC131934,AP006284,CH471158,AB209831,AF007165,AF049459,AF049460,AF068892,AF068893,AF068894,AF068895,AF068896,AF068897,AK289873,AK291383,BC042135,BC053322,BI463261,BM696110,BQ267366,FJ985253 NP_066288,EAX02370,EAX02371,BAD93068,AAB62704,AAC79676,AAC79677,AAC25714,AAC25715,AAC25716,AAC25717,AAC25718,AAC25719,BAF82562,BAF84072,AAH53322,O75398,Q59EI0,ACE87123,ACE86447,ACU88060 Hs.243994 NUDR|SPN|ZMYND5 deaf-1 related transcriptional regulator (nudr)|deformed epidermal autoregulatory factor 1 homolog|nuclear DEAF-1-related transcriptional regulator|suppressin|zinc finger MYND domain-containing protein 5 protein-coding 1344007 DEC1 deleted in esophageal cancer 1 The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq] 1580863 19624270,20379614,10612805,19339270,17943723,15580306,15164053,14702039,12477932,8603412,20935061 50514 NM_017418,AL355601,AL714001,AL731824,CH471090,AB022761,AK056153,BC030567,BC107103,NG_027530 NP_059114,CAI16660,EAW87436,EAW87437,BAA96242,AAH30567,Q8N2T2,Q9P2X7,AAI48553,AAI53140 Hs.148841 CTS9 OTTHUMP00000021982|candidate tumor suppressor CTS9|deleted in esophageal cancer 1 protein-coding 733605 DECR1 2,4-dienoyl CoA reductase 1, mitochondrial This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq] 1580863 7818482,19049547,19027726,18568448,18472006,18193341,16421571,15629123,15531764,15489334,12477932,12397064,11591162,10497069,10318788,9403065,8993540,8300563,7263650,1859445,1495956,19019082,19773279,20379614,18029348,20877624 1666 NM_001359,NG_008042,AC004612,AF049895,AF069291,CH471060,U78302,AK300069,BC105080,BC105082,BC143669,CR590746,L26050,U49352 NP_001350,AAC14671,AAC62233,EAW91662,EAW91663,EAW91664,AAB88724,BAH13204,AAI05081,AAI05083,AAA67551,AAB09423,Q16698,Q7LDK6 Hs.492212 DECR|NADPH|SDR18C1 2,4-dienoyl-CoA reductase, mitochondrial|4-enoyl-CoA reductase|short chain dehydrogenase/reductase family 18C, member 1 protein-coding 735964 DECR2 2,4-dienoyl CoA reductase 2, peroxisomal 1580863 19027726,17081983,15616553,15489334,14702039,12477932,11514237,11157797,9373149,8125298,17207965 26063 NM_020664,AE006463,AL023881,CH471112,AJ293009,AK055839,AK094340,AK128012,AK225961,AL442076,BC010740,BC011968,BC030226,CR595072,CR597611,CR611773,CR618240,CR620920 NP_065715,AAK61231,CAB92744,CAI95592,EAW85811,EAW85812,EAW85813,EAW85814,EAW85815,EAW85816,CAC05664,BAC87232,CAC09442,AAH10740,AAH11968,Q4VXZ8,Q9H3W9,Q9NUI1,ADQ31635 Hs.628831 PDCR|SDR17C1 2,4-dienoyl-CoA reductase 2|2-4-dienoyl-coenzyme a reductase 2, peroxisomal|peroxisomal 2,4-dienoyl-CoA reductase|short chain dehydrogenase/reductase family 17C, member 1 protein-coding 731723 DEDD death effector domain containing This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 734998 15688372,9774341,9832420,16710414,15489334,14702039,12527898,12477932,12235123,19615732,20070122,11753564,11741985,17353931,11965497 734998 9191 NM_001039711,NM_032998,NM_001039712,AL591806,CH471121,AF043733,AF064605,AF083236,AF100341,AJ010973,AK001497,AK022531,AK296629,BC013910,BC016724,BG565440,CR536556,CR596035,CR597847,CR612611,CR619646,CR625264 NP_001034800,NP_127491,NP_001034801,CAI15381,CAI15382,EAW52648,EAW52649,EAW52650,EAW52651,EAW52652,EAW52653,AAC80280,AAC17110,AAC33105,AAD16414,CAA09445,BAG59233,AAH13910,AAH16724,CAG38793,O75618,BAG51086 Hs.725201 CASP8IP1|DEDD1|DEFT|FLDED1|KE05 DEDPro1|FLDED-1|OTTHUMP00000031822|death effector domain-containing protein|death effector domain-containing testicular molecule protein-coding 1353632 DEDD2 death effector domain containing 2 11741985,16303743,15489334,12527898,12477932,12235123,11965497 162989 NM_133328,AC006486,AC010247,AC098778,CH471126,AF443591,AF457575,AK075328,AK130203,AK307895,AY125488,BC013372,BC027930,CR590827,CR593642,CR599685,CR604307,CR619301,CR625070 NP_579874,EAW57110,EAW57111,EAW57112,AAL48220,AAM10835,BAC11551,AAM95240,AAH13372,AAH27930,Q8WXF8 Hs.515432 FLAME-3 DED-containing protein FLAME-3|DNA-binding death effector domain-containing protein 2|FADD-like anti-apoptotic molecule 3|death effector domain-containing DNA binding protein 2 protein-coding 1317434 DEF6 differentially expressed in FDCP 6 homolog (mouse) DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM] 19251698,18391951,17121847,16189514,15023524,14702039,12923183,12651066,12648457,12477932,20546612,19393345,19423540,19679060,20406964,20438785 50619 NM_022047,CH471081,Z97832,AJ276095,AK093613,AK314756,AL110182,AY241694,BC007702,BC017504,CR624997 NP_071330,EAX03821,EAX03822,EAX03823,EAX03824,CAI20190,CAI20191,CAC08450,BAG52743,BAG37294,AAO91767,Q9H4E7,AAI68373 Hs.15476 IBP|SLAT|SWAP70L DEF-6|IRF4-binding protein|SWAP-70-like adaptor protein of T cells|differentially expressed in FDCP 6 homolog protein-coding 1603215 DEF8 differentially expressed in FDCP 8 homolog (mouse) 14702039,12477932,9373149,8889548 54849 NM_017702,NM_207514,AC092143,CH471184,AF289561,AK000193,AK055099,AK095051,AK096485,AK131370,AK225539,AK295880,AK296410,AK303510,AL157465,BC015482,BC105592,BC130482,BC144038,BM546034,BM712309,BX474773 NP_060172,NP_997397,EAW66667,EAW66668,AAL55745,BAA91000,BAG52977,BAC04802,BAD18521,BAH12212,BAG59074,AAH15482,AAI05593,Q6ZN54,Q8WZ31,BAG64541,ADR82741 Hs.62771 FLJ20186|MGC104349 DEF-8|differentially expressed in FDCP 8 homolog protein-coding 1350464 DEFA1 defensin, alpha 1 Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. It differs from defensin, alpha 3 by only one amino acid. [provided by RefSeq] 1580863 8530462,20424487,17207965,20715983,16169070,19263072,19477909,19640840,19861439,19864642,19897717,19963419,20097206,20151808,20214904,20502117,10914484,18957723,18782756,18757648,18616948,18566229,18474654,18472248,18435932,18347011,18191790,18003664,17703413,17635867,17606342,17531545,17448537,16837860,16817779,16709851,16700921,16246847,15944200,15772169,15719067,15489334,15340161,15208269,12913926,12871849,12823617,12767998,12710851,12492457,12488509,12477932,12378798,12060767,9444979,9402371,9030614,8915011,8477861,8476558,8325384,8080882,7873202,4056036,3370315,3174637,2997278,2918759,2917986,2793180,2045096,2019582,2006422,1445873,1445872,1339298,17132727,15620707,20305815,20195543 1667 AL036554,AW291977,NM_004084,AF200455,AF233439,AF238378,L12690,BC069423,BC093791,BC112188,M21130,M26602,X52053 ADQ32866,NP_004075,AAT68878,AAT68879,AAT68880,AAT68883,AAA36382,AAH69423,AAH93791,AAI12189,AAA52302,AAA52303,CAA36280,P59665,Q6EZF6,ABM92162,ABM92163,ABM87797 Hs.380781 DEF1|DEFA1B|DEFA2|HNP-1|HP-1|HP1|MGC138393|MRS OTTHUMP00000196017|defensin, alpha 1, myeloid-related sequence|defensin, alpha 2|myeloid-related sequence|neutrophil defensin 1 protein-coding 1347707 DEFA10P defensin, alpha 10 pseudogene 15494476 449493 AF233439,AY746435,NR_029386 Hs.552564 defensin, alpha 10, pseudogene pseudo 1603418 DEFA11P defensin, alpha 11 pseudogene 15588320,15494476 724068 NG_005694,AF238378,AY746436 Hs.690600 DEFAP3 pseudo 3497520 DEFA1B defensin, alpha 1B 12477932,15944200,19169650,10914484,1339298,1445872,1445873,15340161,15489334,15616305,17452329,18083107,2019582,2917986,2918759,3174637,3370315,4056036,8325384,8477861,8530462 728358 AF200455,AF238378,AX405718,NM_001042500 AAT68875,AAT68884,CAD34825,NP_001035965,Q6EZF6,P59665 Hs.380781 DEFA1|HNP-1|HP-1|HP1 alpha-defensin 1|defensin, alpha 1|neutrophil defensin 1 protein-coding 1345125 DEFA3 defensin, alpha 3, neutrophil-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. It differs from defensin, alpha 1 by only one amino acid. [provided by RefSeq] 1580863 19363140,19194307,18957723,18757648,18474654,18472248,18435932,18154640,18003664,17845323,17531545,17214878,16837860,16700921,15944200,15489334,15208269,15004048,12913926,12871849,12710851,12477932,12375270,10914484,8530462,8477861,8476558,8325384,8080882,4056036,3174637,2997278,2918759,2917986,2006422,1339298,17132727,15620707,19263072,19423540,19758174,19864642,20151808,20406964,20438785,20502117,20424487,20195543 1668 NM_005217,AF200455,AF238378,L12691,BC027917,BC119706,M21131,M23281,X13621,CS541827 NP_005208,AAT68881,AAT68885,AAB57722,AAH27917,AAI19707,AAA35753,AAA52304,CAA31952,P59666,Q6EZE9,ABW03625,CAM91150 Hs.654448 DEF3|HNP-3|HNP3|HP-3|HP3 defensin 3, neutrophil-specific|neutrophil defensin 3|neutrophil peptide 3 protein-coding 1353794 DEFA4 defensin, alpha 4, corticostatin Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq] 1580863 19363140,19194307,19135873,17088326,12477932,8469233,2843187,2501794,2500436,17132727,15620707,19423540,20016407,20056178,20237496,20406964,20438785,20727496 1669 NM_001925,AF200455,AF233439,CH471153,U18745,BC093959,BC106747,BC112091,X65977,CS541829 NP_001916,AAT68877,EAW80486,AAA64488,AAH93959,AAI06748,AAI12092,CAA46792,P12838,Q6EZF8,CAM91151 Hs.591391 DEF4|HNP-4|HP-4|HP4|MGC120099|MGC138296 corticostatin|defensin, alpha 4, preproprotein|neutrophil defensin 4 protein-coding 1345754 DEFA5 defensin, alpha 5, Paneth cell-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq] 1580863 19589339,19542459,19250512,19194307,19135873,18782756,18635180,18499668,18435932,18394979,18258845,18191790,17250830,17088326,15489334,12660734,12477932,12021776,9588893,9169779,8808285,8626737,1429669,17207965,20819643,19423540,19640840,19855381,20130047,20237496,20406964,20438785,20452482,20375624,20673868 1670 NM_021010,AF238378,CH471153,M97925,BC069690,BC107079 NP_066290,AAT68886,EAW80489,AAA35754,AAH69690,AAI07080,Q01523,ADQ32910 Hs.655233 DEF5|HD-5|MGC129728 defensin 5|defensin, alpha 5, preproprotein|defensin-5 protein-coding 1343817 DEFA6 defensin, alpha 6, Paneth cell-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq] 1580863 15489334,12477932,8808285,8626737,8417977,17207965,19423540,20237496,20406964,20438785,19250512,19194307,19135873,17088326,15613481,16341674 1671 NM_001926,AF200455,AF205406,AF233439,AF314060,CH471153,U33317,BC069667,BC069710,BC069728,BC069769,BC093951,BC093953,M98331,BM855691 ADQ32934,NP_001917,AAT68876,EAW80484,AAC50382,AAH69667,AAH69710,AAH69728,AAH69769,AAH93951,AAH93953,AAB59357,Q01524,Q6EZF9 Hs.711 DEF6|HD-6 defensin 6|defensin-6 protein-coding 1352494 DEFA7P defensin, alpha 7 pseudogene 19194307,15588320,15494476 724067 NG_005908,AF238378,AY746432 AAT68882 Hs.690601 DEFA7 pseudo 1349881 DEFA8P defensin, alpha 8 pseudogene 15588320,15494476 449491 NG_005044,AF195487,AF233439,AY746433 Hs.627154 DEFAP1 defensin, alpha 8, pseudogene pseudo 1347789 DEFA9P defensin, alpha 9 pseudogene 15588320,15494476 449492 NG_008304,AF233439,AY746434 Hs.552565 DEFAP2 defensin, alpha 9, pseudogene pseudo 737379 DEFB1 defensin, beta 1 Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq] 10521347,12517831,19516112,19390326,19336370,19194307,19135873,19118900,18991164,18938660,18840281,18817538,18717821,18627502,18614876,18566581,18511430,18452706,18433872,18397186,18346877,18059266,17960157,17921115,17760820,17508030,17415576,17361499,17207965,21077791,21087323,19423540,19460328,19477909,19590686,19702947,19706017,19741426,19789190,19811257,19829306,19954367,20016407,20056178,20060856,20128731,20193032,20237496,20371866,20406964,20438785,20452482,17108702,17071614,16984277,16741514,16700921,16572527,16512757,16435024,15829297,15820309,15696078,15489334,15383276,15382127,15322010,15317821,15242954,14707135,14703118,12728165,12727027,12695553,12537649,12477932,12381917,12153515,12149255,12054642,12010514,11829455,11741980,11714914,11486002,11453504,11442756,11148522,11023262,10879797,10456939,10338476,10223729,10213993,9875146,9541493,9268634,9070620,9038346,8889548,7667395,7628632,17187760,20618470,20618959,20673868,20720450,20305815,20526610 1672 NM_005218,AB102694,AF205406,AF233439,CH471153,U50930,U50931,BC033298,BC047677,BM673094,U73945,X92744,Z50788 NP_005209,BAC56888,EAW80482,AAC51728,AAH33298,AAH47677,AAB49758,CAA63405,CAA90650,P60022,Q86SQ8,ADQ33019 Hs.32949 BD1|DEFB-1|DEFB101|HBD1|MGC51822 BD-1|beta-defensin 1|beta-defensin-1|defensin beta 1 protein-coding 1344949 DEFB103A defensin, beta 103A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103B, which has broad spectrum antimicrobial activity and may play an important role in innate epithelial defense. [provided by RefSeq] 1580863 19194307,19108000,18925411,18711400,18627502,18538383,18452706,18385759,18345485,18345484,18180295,18167348,18006661,17460726,17415576,17015038,17007044,16954397,16818731,16778986,16741514,16634647,16034119,15934078,15829297,15820309,14981906,14714554,14703118,12892899,12840147,12825122,12727027,12477932,12375270,12013554,11741980,11714836,11702237,11523142,11223260,11085990,11076863,19554343,19219676,19480463,19580334,19675119,19702947,19734018,19741426,19995893,20104491,20128731,20385753,20483368,20483750 55894 NM_018661,AC130360,AB037972,AF217245,AF295370,AF301470,AF516673,AJ237673,AY785153 NP_061131,BAB40572,AAF73853,AAG02237,AAG22030,AAM62424,CAC03097,AAV41025,P81534,Q5U7J2,AAI11597 Hs.283082,Hs.637221 DEFB103|DEFB103B|DEFB3|HBD-3|HBD3|HBP-3|HBP3 BD-3|beta-defensin 103|beta-defensin 3|defensin, beta 103|defensin, beta 3|defensin-like protein protein-coding 1354414 DEFB103B defensin, beta 103B 11085990,11223260,11714836,11741980 414325 NM_001081551,AC130365,AF252830,AF285443,AB037972,AF217245,AF295370,AF301470,AF516673,AJ237673,AY785153 NP_001075020,BAB40572,AAF73853,AAG02237,AAG22030,AAM62424,CAC03097,AAV41025,P81534,AAI48675 Hs.283082,Hs.637221 DEFB103A BD-3|DEFB-3|HBD3|beta-defensin 103|beta-defensin 103B|beta-defensin 3|defensin, beta 103|defensin-like protein|hBD-3 protein-coding 1352811 DEFB104A defensin, beta 104A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq] 1580863 20039881,18515986,16033865,15820309,15727258,15588320,15489334,12916016,12734011,12477932,12193721,11854508,11481241,20526896,19194307,19809410,20128731,20483368,20720450 140596 NM_080389,NG_005590,AC084121,AC130365,AJ314835,AJ314834,BC100848,BC100849,BC100850,BC100851 NP_525128,CAC85520,CAC85511,AAI00849,AAI00850,AAI00851,AAI00852,Q8WTQ1,AAI60154 Hs.559507 BD-4|DEFB-4|DEFB104|DEFB104B|DEFB4|MGC118942|MGC118944|MGC118945|hBD-4 beta-defensin 104|beta-defensin 4|defensin, beta 104|defensin, beta 4 protein-coding 1605472 DEFB104B defensin, beta 104B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq] 16033865,15727258,15588320,12916016,12734011,12193721,11854508,11481241 503618 NM_001040702,NG_005589,AC130360,AJ314834,BC100848,BC100849,BC100850,BC100851 NP_001035792,CAC85511,AAI00849,AAI00850,AAI00851,AAI00852,Q8WTQ1 Hs.559507 BD-4|DEFB-4|DEFB104A|hBD-4 beta-defensin 104|beta-defensin 4|defensin, beta 104|defensin, beta 104B protein-coding 1344017 DEFB105A defensin, beta 105A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq] 1580863 16033865,15727258,15588320,12916016,12734011,12477932,12193721,11854508,19194307 245908 NM_152250,NG_005590,AC084121,AB089180,AF540977,BC128437,BC128438,BC140937 NP_689463,BAC10630,AAN33113,AAI28438,AAI28439,AAI40938,Q8NG35,AAI60153 Hs.381378 BD-5|DEFB-5|DEFB105|DEFB105B beta defensin 5|beta-defensin 105|beta-defensin 5|defensin, beta 105|defensin, beta 5 protein-coding 1604132 DEFB105B defensin, beta 105B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. 16033865,15727258,15588320,12916016,12734011,12477932,12193721,11854508 504180 NM_001040703,NG_005589,AC134684,AB089180,AF540977,BC128437,BC128438,BC140937 NP_001035793,BAC10630,AAN33113,AAI28438,AAI28439,AAI40938,Q8NG35 Hs.381378 DEFB105A BD-5|DEFB-5|beta-defensin 105|beta-defensin 5|defensin, beta 105 protein-coding 1347359 DEFB106A defensin, beta 106A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq] 1580863 11854508,16033865,15727258,15588320,15489334,12916016,12734011,12600824,12477932,12193721,19194307 245909 NM_152251,NG_005590,AC084121,AB089181,AF529417,AF540978,AY122466,BC100844,BC100845,BC100846,BC100847,BC110062,BC111688 NP_689464,BAC10631,AAQ09526,AAN33114,AAM93908,AAI00845,AAI00846,AAI00847,AAI00848,AAI10063,AAI11689,Q8N104,AAI41478 Hs.535925,Hs.511958 BD-6|DEFB-6|DEFB106|DEFB106B|MGC118938|MGC118939|MGC118940|MGC118941|MGC133011|MGC133012 beta-defensin 106|beta-defensin 6|defensin, beta 106|defensin, beta 6 protein-coding 1604881 DEFB106B defensin, beta 106B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq] 16033865,15727258,15588320,12916016,12734011,12193721,11854508 503841 NM_001040704,NG_005589,AC130360,AC134684,AB089181,AF529417,AF540978,AY122466,BC100844,BC100845,BC100846,BC100847,BC110062,BC111688 NP_001035794,BAC10631,AAQ09526,AAN33114,AAM93908,AAI00845,AAI00846,AAI00847,AAI00848,AAI10063,AAI11689,Q8N104 Hs.511958 DEFB106A BD-6|DEFB-6|beta-defensin 106|beta-defensin 6|defensin, beta 106 protein-coding 1343991 DEFB107A defensin, beta 107A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq] 1580863 16033865,15727258,15588320,12916016,12734011,12477932,12193721,11854508 245910 BC137510,BC137513,DQ119826,NM_001037668,NG_005590,AC084121,AF540979,AY122467 AAI37511,AAI37514,AAZ81951,Q8IZN7,NP_001032757,AAN33115,AAM93909 Hs.520874,Hs.713490 BD-7|DEFB-7|DEFB107|DEFB107B beta-defensin 107|beta-defensin 7|defensin, beta 7 protein-coding 1602611 DEFB107B defensin, beta 107B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. [provided by RefSeq] 19194307,16033865,15727258,15588320,12916016,12734011,12193721,11854508 503614 NM_001040705,NG_005589,AC134684,AF540979,AY122467,BC137510,BC137513,DQ119826 NP_001035795,AAN33115,AAI37511,AAI37514,AAZ81951,Q8IZN7,AAI48566,AAI56677,AAM93909 Hs.520874,Hs.713490 DEFB107A|HsT21816 BD-7|DEFB-7|beta-defensin 107|beta-defensin 7|defensin, beta 107 protein-coding 1606420 DEFB108B defensin, beta 108B 19194307,12734011,12600824,11854508 245911 NM_001002035,AP002495,AF529416,AY122468 NP_001002035,AAQ09525,AAM93910,Q8NET1,AAI40260,AAI41634 Hs.555032 BD-8|DEFB-8|beta-defensin 108B|beta-defensin 8|defensin, beta 108, pseudogene 1|defensin, beta 8|hBD-8 protein-coding 1605453 DEFB108P1 defensin, beta 108, pseudogene 1 12734011,11854508 503694 NG_005426,AC130365,AC131269,AF540980 AAN33116,A8MXU0 Hs.583890 DEFB-8|DEFB108|DEFB108A pseudo 2289876 DEFB108P2 defensin, beta 108, pseudogene 2 12734011,11854508 503837 NG_007389,AC130360 pseudo 2289882 DEFB108P3 defensin, beta 108, pseudogene 3 12734011,11854508 504185 NG_007390,AC130366 pseudo 2289875 DEFB108P4 defensin, beta 108, pseudogene 4 12734011,11854508 503840 NG_007391,AC087203 pseudo 1351347 DEFB109P1 defensin, beta 109, pseudogene 1 12600824,11854508,12734011 245912 NR_024044,AC087203,AF540981 Hs.721640 DEFB-9|DEFB109|DEFB109A pseudo 2311618 DEFB109P1B defensin, beta 109, pseudogene 1B 16033865,12477932 641517 DQ012013,NR_003668,AF228730 AAY59749,AAI41502,AAI48782 Hs.616079 DEF109P1B|DEFB109 pseudo 4108509 DEFB109P2 defensin, beta 109, pseudogene 2 15496913 503839 AC087203,NG_023401 pseudo 1348391 DEFB110 defensin, beta 110 16033865,11854508,12477932 245913 NM_001037728,AL138879,DQ012014,DQ012015,NM_001037497 NP_001032817,AAY59750,AAI41479,AAI48764,AAI48542,AAI56745,AAY59751,NP_001032586,Q30KQ9 Hs.571093 DEFB-10|DEFB-11|DEFB111|MGC183056|MGC190230 beta-defensin 10|beta-defensin 11|beta-defensin 110|beta-defensin 111|defensin, beta 10 protein-coding 1350254 DEFB111 defensin, beta 111 11854508,16033865 245914 NM_001037497,AL138879,DQ012015 NP_001032586,AAY59751,Q30KQ9,AAI48542,AAI56745 Hs.571093 DEFB-11 protein-coding 1353566 DEFB112 defensin, beta 112 16033865,11854508 245915 NM_001037498,AL138879,CH471081,AY122469,DQ012016 NP_001032587,EAX04351,AAM93911,AAY59752,Q30KQ8,AAI41480,AAI48765 Hs.571092 DEFB-12 beta-defensin 112|beta-defensin 12|defensin, beta 12 protein-coding 1346729 DEFB113 defensin, beta 113 16033865,11854508 245927 NM_001037729,AL138879,DQ012017 NP_001032818,AAY59753,Q30KQ7,AAI41481,AAI53176 Hs.582789 DEFB-13 beta-defensin 113|beta-defensin 13|defensin, beta 13 protein-coding 1348589 DEFB114 defensin, beta 114 16033865,11854508,20379614 245928 NM_001037499,AL138879,AY122470,DQ012018 NP_001032588,AAM93912,AAY59754,Q30KQ6,AAI56852 Hs.381372 DEFB-14 beta-defensin 114|beta-defensin 14|defensin, beta 14 protein-coding 1351953 DEFB115 defensin, beta 115 16033865,11854508,11780052 245929 NM_001037730,AL121723,DQ012019 NP_001032819,AAY59755,Q30KQ5,AAI52827 Hs.580793 DEFB-15 beta-defensin 115|beta-defensin 15|defensin, beta 15 protein-coding 1344787 DEFB116 defensin, beta 116 16033865,11854508,11780052 245930 NM_001037731,AL031650,DQ012020 NP_001032820,AAY59756,Q30KQ4,AAI48546,AAI53135 Hs.580703 DEFB-16 beta-defensin 116|beta-defensin 16|defensin, beta 16 protein-coding 1352229 DEFB117 defensin, beta 117 16033865,11854508 245931 DQ012021,AL031650,XM_002343728,XM_002345410,XM_002348051 AAY59757,Q30KQ3,XP_002343769,XP_002345451,XP_002348092 Hs.580702 DEFB-17 defensin, beta 117|defensin, beta 17 protein-coding 1344518 DEFB118 defensin, beta 118 1580863 11564719,10588992,15489334,15033915,12600824,12477932,11854508,11780052,19423540,20237496,20406964,20438785,15755028 117285 NM_054112,AL031650,CH471077,AF347073,AF529415,AY122471,BC035677,BC117378 NP_473453,CAI18885,EAW76452,EAW76453,AAL27987,AAQ09524,AAM93913,AAI17379,Q96PH6,ADR83460 Hs.274124 C20orf63|DEFB-18|ESC42|ESP13.6|dJ1018D12.3 ESP13.6|beta-defensin 118|beta-defensin 18|defensin, beta 18|epididymal secretory protein 13.6|epididymus specific clone 42 protein-coding 1606419 DEFB119 defensin, beta 119 15489334,12975309,12477932,12128228,11854508,11790538,11786250,11780052,19423540,20406964,20438785 245932 AF479698,AF479699,AY122472,AY122473,AY358860,AY501001,BC062212,BI460707,NM_153289,NM_173460,NM_153323,AL031650,AL121751,CH471077 EAW76449,EAW76450,EAW76451,AAQ05837,AAQ05838,AAM93914,AAM93915,AAQ89219,AAS87295,AAH62212,Q5GRG0,Q5TH42,Q8N690,NP_695021,NP_775689,NP_697018,CAI18883,CAI18884,CAI19147,CAI19148,CAI19149,EAW76448 Hs.516998 DEFB-19|DEFB-20|DEFB120|ESC42-RELA|ESC42-RELB|MGC71893 beta-defensin 119|beta-defensin 120|beta-defensin 19|beta-defensin 20|defensin, beta 120|defensin, beta 19|defensin, beta 20 protein-coding 1344288 DEFB121 defensin, beta 121 15772680,11854508,11780052,12477932 245934 NM_001011878,AL121751,AF479700,AY501000,BC130607,BC130609,NM_001171832 NP_001011878,AAQ05839,AAS87294,AAI30608,AAI30610,Q5J5C9,Q5GRF9,NP_001165303,ADR82785 Hs.272294 DEFB-21|ESC42-RELC|ESC42RELC beta-defensin 121|beta-defensin 21|defensin, beta 21 protein-coding 1354400 DEFB122 defensin, beta 122 (pseudogene) 15772680,11854508 245935 NR_002577,AL121751,AY122474 Hs.526624 DEFB-22|DEFB122P pseudo 1351372 DEFB123 defensin, beta 123 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. [provided by RefSeq] 1580863 12975309,12477932,11854508,11780052 245936 NM_153324,AL121751,CH471077,AF479701,AY122475,AY358859,BC126365,BC126391 NP_697019,CAI19150,EAW76445,EAW76446,AAQ05840,AAM93916,AAQ89218,AAI26366,AAI26392,Q5GRF8,Q8N688 Hs.122509 DEFB-23|ESC42-RELD beta defensin 23|beta-defensin 123|beta-defensin 23|specific to testis and epididymis protein-coding 1347867 DEFB124 defensin, beta 124 1580863 16033865,11854508,11780052 245937 NM_001037500,AL121751,AY122476,DQ119827 NP_001032589,AAM93917,AAZ81952,Q8NES8,AAI56854 Hs.381373 DEFB-24 beta-defensin 124|beta-defensin 24|defensin, beta 24 protein-coding 1342634 DEFB125 defensin, beta 125 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq] 1580863 12620395,11854508,11780052,12477932 245938 NM_153325,AL360078,CH471133,CS072337,AA935636,AF525927,AK311802,AY122477,BC128195,BC128196 NP_697020,CAI15186,EAX10689,CAI93475,AAP47220,BAG34745,AAM93918,AAI28196,AAI28197,Q8N687 Hs.380220 DEFB-25|MGC57449 beta defensin 25|beta-defensin 125|beta-defensin 25 protein-coding 1352735 DEFB126 defensin, beta 126 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. 1580863 19423540,20406964,20438785,15489334,12620395,12477932,11854508,11780052,10491631,9373149,8125298 81623 NM_030931,AL360078,CH471133,AF525928,AJ236910,AK225987,AY122478,BC069294,BX108307,HC006906,HC044553 NP_112193,CAC17684,EAX10688,AAP47221,CAC27121,AAM93919,Q9BYW3,CBH19258,CBH30606 Hs.124211 C20orf8|DEFB-26|DEFB26|ESP13.2|bA530N10.1|hBD-26 beta defensin 26|beta-defensin 126|beta-defensin 26|epididymal secretory protein 13.2|epididymal secretory protein ESP13.2 protein-coding 1343760 DEFB127 defensin, beta 127 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq] 1580863 17207965,10588992,15489334,12975309,12620395,12477932,11854508,11780052,15340161,19423540,20237496,20406964,20438785 140850 NM_139074,AL360078,CH471133,AF525929,AY122479,AY358796,BC069486,BC109395,BC110085 ADQ32947,NP_620713,CAC17685,EAX10687,AAP47222,AAM93920,AAQ89156,AAH69486,AAI09396,AAI10086,Q14DW6,Q9H1M4 Hs.99362 C20orf73|DEF-27|DEFB-27|DEFB27|bA530N10.2|hBD-27 beta defensin 27|beta-defensin 127|beta-defensin 27 protein-coding 1352295 DEFB128 defensin, beta 128 16033865,11854508,12477932 245939 AL360078,AF525930,BC140936,NM_001037732 NP_001032821,CAI15187,AAP47223,AAI40937,Q7Z7B8 Hs.516818 DEFB-28|DEFB28|hBD-28 beta-defensin 128|beta-defensin 28|defensin, beta 28 protein-coding 1347595 DEFB129 defensin, beta 129 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq] 1580863 17207965,15489334,12975309,12620395,12600824,12477932,11854508,11780052 140881 HC006908,HC044701,AI217663,NM_080831,AL360078,CH471133,AF525931,AF529413,AY122480,AY358186,BC070359 CBH19259,CBH30680,ADQ32085,NP_543021,CAC17686,EAX10686,AAP47224,AAQ09522,AAM93921,AAQ88553,AAH70359,Q9H1M3 Hs.112087 C20orf87|DEFB-29|DEFB29|bA530N10.3|hBD-29 beta defensin 29|beta-defensin 129|beta-defensin 29 protein-coding 1350712 DEFB130 defensin, beta 130 16033865,11854508 245940 NM_001037804,AC144830,AC232308,DQ012022 NP_001032893,AAY59758,Q30KQ2,AAI48524,AAI53119 Hs.581979 DEFB-30 beta-defensin 130|beta-defensin 30|defensin, beta 30 protein-coding 1343551 DEFB131 defensin, beta 131 12600824,16033865,11854508 644414 NM_001040448,AC116655,AF529414 NP_001035538,AAQ09523,P59861,AAI60155 Hs.590200 DEFB-31 beta-defensin 131|beta-defensin 31|defensin, beta 31 protein-coding 1605783 DEFB132 defensin, beta 132 18416833,18390568,18343807,12975309,12620395,12477932,11780052 400830 NM_207469,AL034548,AF525932,AY358708,AY621329,BC137292,BC137293,BE044548,EF426755 NP_997352,CAI19174,AAP47225,AAQ89071,AAT51868,AAI37293,AAI37294,ABR09864,Q7Z7B7 Hs.516819 DEFB32|UNQ827 BD-32|DEFB-32|KFLL827|RP5-1103G7.6|beta-defensin 132|beta-defensin 32|defensin HEL-75|defensin, beta 32 protein-coding 1343807 DEFB132P defensin, beta 132, pseudogene 245942 1348474 DEFB133 defensin, beta 133 16033865 403339 DQ012023,AL356586,AY621330,NM_001166478 AAY59759,Q30KQ1,AAT51869,NP_001159950 Hs.558270 beta-defensin 133 protein-coding 2302256 DEFB134 defensin, beta 134 16033865,12477932 613211 NM_001033019,AC107918,CH471157,AY621331,BC130461,BC130463,DQ012024 NP_001028191,EAW65639,AAT51870,AAI30462,AAI30464,AAY59760,Q4QY38,ADR82792 Hs.631852 MGC163333|MGC163335 beta-defensin 134|beta-defensin 135 protein-coding 2307454 DEFB135 defensin, beta 135 16033865,11854508 613209 NM_001033017,AC107918,AY621332,DQ012025 NP_001028189,AAT51871,AAY59761,Q30KP9,AAI40267,AAI46564 Hs.558284 DEFB136 beta-defensin 135|beta-defensin 136 protein-coding 2307453 DEFB136 defensin, beta 136 16033865,11854508 613210 NM_001033018,AC107918,AY621333,DQ012026 NP_001028190,AAT51872,AAY59762,Q30KP8,AAI48538,AAI53130 Hs.558285 DEFB137 beta-defensin 136|beta-defensin 137 protein-coding 1348794 DEFB4 defensin, beta 4 Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq] 1580863 20229195,15004048,10404637,19554343,14963722,14760942,14714554,14703118,14688115,12958190,12892899,12832046,12821122,12710950,12612195,12537649,12522054,12519391,12489997,12488564,12477932,12421237,12411706,12395153,12389997,12381917,12183584,12174890,12063167,12010514,11934878,11751976,11741980,11728477,11714914,11714836,11453504,11442756,11005092,10906336,10837369,10603376,10456937,14981906,10338476,9831658,9825219,9727055,9202117,21105373,10521347,19412702,19266104,19233848,19212651,19212650,19194307,19172136,19121950,19063971,19056110,18641349,18635180,18627502,18603327,18578886,18566581,18556347,18452706,18449938,18371140,18362142,18059266,17986621,17928537,17922409,17760820,17415576,17403538,17392834,17298411,17283097,17254301,17000004,16909382,16762333,16741514,16433908,16417227,16319062,16269090,16242370,16219107,16201312,16201065,16097044,16034119,15985221,15829297,15820309,15727258,15661923,15547668,15529375,15502724,15489334,15385474,15382127,15240151,15161058,15013761,20618959,20720450,18601854,19249126,19617917,19702947,19735472,19760202,19809410,19819163,19948723,20006664,20023216,20032992,20068036,20128731,20231411,20378733,20483750,20634980,21062008,20653851 1673 NG_023301,NM_004942,AC130365,AF040153,AF071216,AJ000152,BC069285,BC093983,BC093985,Z71389 NP_004933,AAC33549,AAC69554,CAB65126,AAH69285,AAH93983,AAH93985,CAA95992,O15263 Hs.105924 DEFB-2|DEFB102|DEFB2|DEFB4|DEFB4B|HBD-2|SAP1 BD-2|beta-defensin 2|beta-defensin 4A|defensin, beta 2|defensin, beta 4|skin-antimicrobial peptide 1 protein-coding 1625102 DEFB4P defensin, beta 4, pseudogene 100289462 AC130360,XM_002342811 XP_002342852 Hs.721744 DEFB4P OTTHUMP00000223096|defensin, beta 4, pseudogene|defensin, beta 4B protein-coding 1342800 DEFB50 defensin beta 50 14659016 492317 AY387658 1345729 DEFQ2P defensin, theta 2, pseudogene 449487 1353061 DEFQ3P defensin, theta 3, pseudogene 449480 1346985 DEFQ4P defensin, theta 4, pseudogene 449485 1350843 DEFQ5P defensin, theta 5, pseudogene 449479 1348526 DEFQ6P defensin, theta 6, pseudogene 449486 1347186 DEFT1P defensin, theta 1 pseudogene 15588320,15019196,12477932,11854483,11790538,11786250,10521339,20305815 170949 U10267,AF355799,BC069283,NR_036686,AF233439 AAL82194,Q8TEZ3 Hs.681792,Hs.690009 DEFQ1|DEFT1 defensin, theta 1 pseudo 2312704 DEFT1P2 defensin, theta 1 pseudogene 2 17214878,15944200,11854483,12477932 100287083 AF238378,AF355799,BC069283,NR_036687 AAL82194 Hs.681792,Hs.690009 pseudo 1605117 DEGS1 degenerative spermatocyte homolog 1, lipid desaturase (Drosophila) This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. Two splice variants have been identified. [provided by RefSeq] 20105137,9188692,17353931,17283068,12477932,11937514,17207965 8560 AC092809,CH471098,AF002668,AF466375,AK308232,AY423730,BC000961,CR599325,CR602386,CR612697,CR612716,CR614089,CR619224,CR623303,NM_003676 O15121,NP_003667,EAW69711,EAW69712,AAB62238,AAM12531,AAS00493,AAH00961,ADQ32348 Hs.299878 DEGS|DES1|Des-1|FADS7|MGC5079|MIG15|MLD cell migration-inducing gene 15 protein|degenerative spermatocyte homolog, lipid desaturase|dihydroceramide desaturase|membrane fatty acid (lipid) desaturase|membrane lipid desaturase|migration-inducing gene 15 protein|sphingolipid delta 4 desaturase|sphingolipid delta(4)-desaturase DES1 protein-coding 1352357 DEGS2 degenerative spermatocyte homolog 2, lipid desaturase (Drosophila) This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq] 16341674,15063729,12477932,20677014 123099 NM_206918,AL133523,CH471061,AI380009,AY541700,BC063598,BM789564 NP_996801,EAW81688,AAS68362,AAH63598,Q6QHC5 Hs.159643 C14orf66|DES2|FADS8 sphingolipid C4-hydroxylase/delta 4-desaturase|sphingolipid delta 4 desaturase/C-4 hydroxylase|sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 protein-coding 1349075 DEK DEK oncogene This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20501624,12140263,9050861,19229864,19223548,19036808,18477217,18332104,18227428,17685435,17524367,17081983,17030615,16894028,16829531,16809543,16721057,16696975,16461319,16344560,16254365,16180235,16007192,15987677,15908448,15766865,15722484,15692740,15593216,15563827,15489334,15238633,15199154,15146197,14738146,14627833,14574404,12595566,12483538,12477932,12388720,12031912,11997399,11333257,11118221,11058868,10908574,10837023,9952027,9704652,9684994,9058666,8910362,1549122,1308167,20543864,15199153,17158748,17643375,19563407,19679545,20040570,20215548,20669926 7913 NM_001134709,NM_003472,AL031774,CH471087,AJ270688,AJ420539,AK294079,AK297749,AK298089,AK312616,AU131262,BC012442,BC035259,BQ574048,CN388433,CR599640,CR623348,CR626065,X64229,BX641063 NP_001128181,NP_003463,CAI20082,EAW55402,EAW55403,BAG57421,BAG60099,BAG60375,BAG35503,AAH35259,CAA45536,P35659,Q6MZJ9,CAE46031,ABZ92195 Hs.484813 D6S231E DEK oncogene (DNA binding)|OTTHUMP00000221545|protein DEK protein-coding 1601975 DEM1 defects in morphology 1 homolog (S. cerevisiae) 15302935,14702039,12477932,17207965 64789 NM_022774,AL603839,CH471059,AF086542,AK021507,AK023245,AK024797,AK094092,BC021969,CR615829 NP_073611,CAI16298,CAI16299,CAI16300,CAI16301,CAI16302,CAI16303,EAX07210,EAX07211,EAX07212,EAX07213,EAX07214,BAB15008,AAH21969,Q9H790,ADQ32624 Hs.59584 C1orf176|FLJ11445|FLJ13183|FLJ21144 OTTHUMP00000008384|OTTHUMP00000008385|OTTHUMP00000008386|OTTHUMP00000008387|OTTHUMP00000008388|OTTHUMP00000008389|OTTHUMP00000008390|OTTHUMP00000008391|defects in morphology protein 1 homolog protein-coding 1317405 DENND1A DENN/MADD domain containing 1A 737633 19913121,20583170,20628086,20691247,17081983,15489334,15164053,14702039,12477932,10997877,9373149,8125298,21151128,17182770,20154091 737633 57706 NM_020946,NM_024820,AC006450,AL158208,AL161790,AL390774,AL445489,CH471090,AB046828,AK024782,AK074151,AK225104,BC009616,BC028061,BC039703,CR626287,AK295710,AK299867,BK006958 NP_065997,NP_079096,CAI15705,CAI15706,CAI15707,CAH73637,CAH73638,CAH73640,CAI39791,CAI39792,CAI39794,EAW87569,EAW87570,EAW87571,EAW87572,EAW87573,EAW87574,EAW87575,BAB13434,BAB15002,BAB84977,AAH09616,AAH28061,AAH39703,Q8TEH3,Q9HCG4,BAH12164,BAH13155,DAA12500 Hs.568340 FAM31A|FLJ38464|KIAA1608|RP11-230L22.3 DENN domain-containing protein 1A|OTTHUMP00000022090|connecdenn protein-coding 1318210 DENND1B DENN/MADD domain containing 1B 737633 16344560,14702039,12477932,11181995,20032318,20154091,21102463,15342556,20816195 737633 163486 AL139136,AL365258,CH471067,AK000061,AK024832,AK091207,AL831839,BC016588,BC022561,NM_144977,BC063456,BC063877,BC074735,CR622563,DA495773,H19092,BK006960,AI692985,AK093982,BP220095,NM_001195215,NM_001195216 NP_659414,CAI15314,CAI15315,CAI14213,CAI14214,EAW91278,EAW91279,EAW91280,EAW91281,EAW91282,EAW91283,EAW91284,EAW91285,BAA90918,BAB15024,BAG52307,CAD38548,AAH16588,AAH22561,AAH63877,AAH74735,Q6P3S1,Q96AX6,ABM83324,ABM86539,DAA12502,NP_001182144,NP_001182145 Hs.125056 C1ORF18|C1orf218|DKFZp547O0715|FAM31B|FLJ20054|FLJ21179|FLJ33888|MGC103810|MGC27044|RP11-53I24.2 DENN domain-containing protein 1B|OTTHUMP00000033671|OTTHUMP00000203406|OTTHUMP00000203407|family with sequence similarity 31, member B|family with sequence similarity 31, member b protein-coding 1345609 DENND1C DENN/MADD domain containing 1C 737633 14702039,12477932,9373149,20154091,8125298 737633 79958 NM_024898,AC010503,CH471139,AA521476,AK026410,AK055820,AK225623,AK303226,AK303509,AL713770,AL834293,BC033437,BX647304,BK006959 NP_079174,EAW69080,EAW69081,EAW69082,BAB15475,BAG51578,BAG64313,BAH13977,CAD38966,AAH33437,Q8IV53,DAA12501 Hs.236449 FAM31C|FLJ22757 DENN domain-containing protein 1C|family with sequence similarity 31, member C protein-coding 1314588 DENND2A DENN/MADD domain containing 2A 20379614,16344560,15489334,12477932,10574462,20395239 27147 NM_015689,AC006452,AC069335,CH236950,CH471070,AB033103,AK290056,AK297959,BC049193,BC115004,BC132875,BC144190,DA401015 NP_056504,EAW83954,BAA86591,BAF82745,BAG60271,AAH49193,AAI15005,AAI32876,Q9ULE3 Hs.6385 FAM31D|KIAA1277 DENN domain-containing protein 2A|OTTHUMP00000212109|OTTHUMP00000212110|OTTHUMP00000212111 protein-coding 1604979 DENND2C DENN/MADD domain containing 2C 16710414,16344560,15489334,14702039,12477932 163259 NM_198459,AL096773,AL133382,AL390241,CH471122,AK094418,AK124287,AK308302,BC063894,BX647950,BX649075,CR749576,DB071246 NP_940861,CAI19301,EAW56605,CAH18369,Q68D51,ACE87378,ACE87379,ACE86694,ACE86695,CAM27633 Hs.654928 DKFZp686G0351|DKFZp686N1631|DKFZp779P1149|FLJ37099|RP5-1156J9.1|dJ1156J9.1 DENN domain-containing protein 2C|OTTHUMP00000195671 protein-coding 1602459 DENND2D DENN/MADD domain containing 2D 16710414,15489334,14702039,12477932,17207965,18677770 79961 NM_024901,AL355816,CH471122,AK026110,AK301583,BC004557,CR590904,CR612515,AL713773 NP_079177,CAI19368,CAI19369,EAW56473,EAW56474,EAW56475,EAW56476,EAW56477,EAW56478,EAW56479,BAB15363,BAG63074,AAH04557,Q8TCN6,Q9H6A0,CAD28535,ADQ32836 Hs.557850 FLJ22457|RP5-1180E21.2 DENN domain-containing protein 2D protein-coding 1605083 DENND3 DENN/MADD domain containing 3 14702039,12477932,10737800,10048485,11278422,20379614 22898 NM_014957,AC040970,CH471060,AB020677,AK057136,AK058001,AK091556,AK123283,AK125506,AK131505,AL110264,AL544320,AW500126,BC110827,BC133023,BC144226,BF898211,CB989310 NP_055772,EAW92216,EAW92217,EAW92218,EAW92219,EAW92220,BAA74893,BAB71630,BAG52379,BAD18649,AAI33024,AAI44227,A2RUS2 Hs.18166 KIAA0870 DENN domain-containing protein 3 protein-coding 1349929 DENND4A DENN/MADD domain containing 4A 737633,1580863 8056341,17353931,15489334,15324660,14702039,12906859,12477932,12080043,20139978 737633 10260 NM_001144823,NM_005848,AC011939,CH471082,AF534403,AK091268,AK091368,AK290292,AK299570,AK307411,AL832602,AL833317,AL833384,BC028057,BC041706,X63417 Q7Z401,ABZ92395,NP_001138295,NP_005839,EAW77745,AAQ10514,BAC03648,BAF82981,BAH13069,CAD89960,AAH28057,AAH41706,CAA45013,Q05C90 Hs.654567 FLJ33949|IRLB|KIAA0476|MYCPBP C-myc promoter-binding protein|DENN domain-containing protein 4A|c-myc promoter binding protein protein-coding 1344276 DENND4B DENN/MADD domain containing 4B 12906859,11181995,9455484,8325628,14702039 9909 NM_014856,AL358472,CH471121,AB007945,AK124049,AK129713,AK226053,AL512734,L10375 NP_055671,CAI14016,EAW53268,EAW53269,BAA32321,O75064,AAI67792 Hs.632480 DKFZp762N174|FLJ26202|KIAA0476 DENN domain-containing protein 4B|OTTHUMP00000035257 protein-coding 1318285 DENND4C DENN/MADD domain containing 4C 17081983,16964243,15164053,15146197,14702039,12906859,12477932 55667 NM_017925,AL161909,AL391834,CH471071,AK000627,AK000693,AK001046,AK002020,AK025705,AK125842,AK127734,BC144484,BC144485,CN427691,CR627367,AL834521,AK299842,AK302901 NP_060395,CAH70581,CAM21138,CAM21139,CAM21140,CAM21141,CAM21148,EAW58644,EAW58645,EAW58646,EAW58647,BAA91294,BAA91324,BAA91478,BAA92039,BAB15221,BAC86313,BAG54561,CAD39177,Q5VZ89,Q9NWQ5,CAH10466,BAH13146,BAH13836 Hs.249591 C9orf55|C9orf55B|DKFZp686I09113|FLJ20686|bA513M16.3 DENN domain-containing protein 4C|chromosome 9 open reading frame 55 protein-coding 1315561 DENND5A DENN/MADD domain containing 5A 19141279,15489334,14702039,12477932,10470851,7782346,19762545 23258 NM_015213,AC055845,AC079296,AP006259,CH471064,AB029014,AK025499,AK026007,AK091148,AK125444,AK294016,AK295881,AK302478,AL117448,BC005100,BC009354,BC018797,BC071596,BX401101,GN344099 NP_056028,EAW68600,EAW68601,BAA83043,BAB15155,BAG54197,BAG57377,BAG58677,BAG63766,CAB55932,AAH09354,AAH71596,Q6IQ26,CAY55985 Hs.501857 FLJ22354|FLJ33829|FLJ43455|KIAA1091|RAB6IP1 DENN domain-containing protein 5A|RAB6 interacting protein 1|rab6-interacting protein 1 protein-coding 1605273 DENND5B DENN/MADD domain containing 5B 14702039,12477932,8889548 160518 AI762929,AI858532,AK021465,AK095598,AK123642,AK125323,AL137364,AL157581,BC020855,BC068580,BF513808,BM676905,BX537924,CR749639,NM_144973,AC022080,AC068792,CH471116,AB209341,AF086301 BAC04583,BAG53929,BAC86129,AAH20855,AAH68580,CAD97905,CAH18433,Q6ZUT9,NP_659410,EAW88552,EAW88553,EAW88554,EAW88555,EAW88556,EAW88557,BAD92578 Hs.118166 DKFZp686P1174|FLJ41648|FLJ43333|MGC24039 DENN domain-containing protein 5B|rab6IP1-like protein protein-coding 1351149 DENR density-regulated protein This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq] 1580863 12477932,10497265,9628587,16169070,17878526,15489334,16874301,17207965 8562 NM_003677,AC026331,AC027290,CH471054,AB014731,AF038554,AF103800,AI093093,AK299463,BC000925,BC007860,BG705827,BI871385,CR622756 NP_003668,EAW98338,EAW98339,EAW98340,EAW98341,EAW98342,EAW98343,BAB20268,AAC02985,AAF02420,BAG61429,AAH07860,O43583,ADQ31604 Hs.22393 DRP|DRP1|SMAP-3 density-regulated protein|smooth muscle cell associated protein-3|smooth muscle cell-associated protein 3 protein-coding 1315914 DEPDC1 DEP domain containing 1 20587513,17452976,16344560,14702039,12477932,9373149,8125298,20379614 55635 NM_017779,NM_001114120,AL138789,CH471059,AB281187,AB281274,AJ278112,AK000361,AK000490,AK022792,AK225735,AL834208,BC003511,BC011743,BC035506,BC041580,BC065304,DB147703,AL139413,AK299324,CS403022,CS403024,GM983784,GM983786 NP_060249,NP_001107592,CAI22441,CAI22442,CAI22443,EAX06471,EAX06472,EAX06473,EAX06474,EAX06475,EAX06476,EAX06477,BAF91373,BAF91374,CAB92444,BAA91111,BAA91201,BAB14246,CAH10663,AAH03511,AAH65304,Q5TB30,Q69YG3,Q9NXA5,BAH13001,CAL40387,CAL40388,CAX21632,CAX21633 Hs.445098 DEP.8|DEPDC1-V2|DEPDC1A|FLJ20354|SDP35 5830484J08Rik|DEP domain-containing protein 1A|cell cycle control protein SDP35 protein-coding 1314052 DEPDC1B DEP domain containing 1B 737633,1580863 20923822,14702039,12477932 737633 55789 NM_018369,NM_001145208,AC016591,AC109133,CH471123,AA830503,AF303178,AF488828,AF490257,AK001166,AK002114,AK290684,AK299242,AK300782,BC010904,BC019075,DC299445 NP_060839,NP_001138680,EAW54998,AAN31126,AAO49477,AAO85465,BAA91529,BAA92089,BAF83373,BAG61273,BAG62446,AAH10904,AAH19075,Q8WUY9 Hs.726240 BRCC3|FLJ11252|XTP1 DEP domain-containing protein 1B|HBV X-transactivated gene 8 protein|HBV XAg-transactivated protein 8|HBxAg transactivated protein 1|breast cancer cell 3 protein-coding 2289757 DEPDC1P1 DEP domain containing 1 pseudogene 1 730888 NG_007041,AC026951 pseudo 2289760 DEPDC1P2 DEP domain containing 1 pseudogene 2 100126446 NG_007042,AL592437 FLJ20483 pseudo 1349120 DEPDC4 DEP domain containing 4 1580863 14702039,12477932 120863 NM_152317,AC026110,CH471054,AK090824,BC015117,BC039480,BC100927,BC100928,BC100929,BC100930 NP_689530,EAW97628,EAW97629,BAC03525,AAH15117,AAI00929,AAI00930,AAI00931,Q3ZCN8,Q8N2C3 Hs.653118 DEP.4|FLJ33505 DEP domain-containing protein 4 protein-coding 1323042 DEPDC5 DEP domain containing 5 1580863 15770670,15489334,12477932,10591208,9734811 9681 NM_014662,NM_001007188,NM_001136029,AC005004,AL022331,CH471095,Z82190,Z83856,AB014545,AJ698950,AJ698951,AJ704764,AK294583,AK294987,AK299886,AK300737,AK309008,AK316364,BC057797,BC136612,BC144291,BC146766,BM145115,BX640828,CR749304 NP_055477,NP_001007189,NP_001129501,AAD08635,CAI17972,CAI17973,CAI17974,CAI17975,CAI17976,EAW59996,EAW59997,EAW59998,EAW59999,CAI19696,CAI19697,CAI19698,CAI19699,CAI18776,CAI18777,CAI18778,CAI18779,BAA31620,CAG27889,CAG27890,CAG28924,BAG57774,BAG58054,BAG61733,BAH13337,BAH14735,AAH57797,AAI36613,AAI46767,CAE45904,CAH18159,O75140 Hs.435022 DEP.5|DKFZp779P2027 DEP domain-containing protein 5|OTTHUMP00000028946|OTTHUMP00000064062 protein-coding 1344261 DEPDC6 DEP domain containing 6 1580863 16381901,16344560,15489336,14702039,12477932,11230166,11076863,9373149,8125298,19446321,11256614,20379614 64798 NM_022783,AC091563,AP005717,CH471060,AK022403,AK022490,AK023916,AK225168,AK225675,AK297822,AK315175,AL136678,BC012040,BC024746,CR615062,DA622978 NP_073620,EAW91997,BAB14054,BAB14723,BAG60159,BAG37616,CAB66613,AAH12040,AAH24746,Q8TB45,CAL37454,CAL38211 Hs.112981 DEP.6|DEPDC6|DEPTOR|DKFZp564B1778|FLJ12341|FLJ12428|FLJ13854 DEP domain containing 6|DEP domain containing mTOR interacting protein|DEP domain-containing mTOR-interacting protein|DEP domain-containing protein 6 protein-coding 1602447 DEPDC7 DEP domain containing 7 12477932,10568747 91614 NM_001077242,NM_139160,AC107939,AC131263,AL121926,CH471064,AF447588,AJ245600,AK295960,BC011446,BC030970,CR590754,CR610553,AK294934 NP_001070710,NP_631899,CAC48255,EAW68212,EAW68213,AAM22871,CAB53247,BAG58740,AAH30970,Q96QD5,ABZ92082,BAG58012 Hs.280990 TR2|dJ85M6.4 DEP domain-containing protein 7|dJ85M6.4 (novel 58.3 KDA protein)|novel 58.3 KDA protein protein-coding 1352250 DERA 2-deoxyribose-5-phosphate aldolase homolog (C. elegans) 1580863 8125298,9226884,17353931,12546782,12477932,10810093,9373149,8889548,20379614 51071 NM_015954,AC022073,CH471094,AF132960,AK024614,AK222541,AK296697,AK309182,BC041328,BC056234,CB851336,CR594810,CR597600,CR605473,CR607223,CR608188,CR608624,CR616542 NP_057038,EAW96357,EAW96358,EAW96359,AAD27735,BAD96261,BAG59291,AAH56234,Q9Y315,AAI52914 Hs.39429 CGI-26|DEOC 2-deoxyribose-5-phosphate aldolase homolog|deoxyriboaldolase|deoxyribose-phosphate aldolase-like|phosphodeoxyriboaldolase|putative deoxyribose-phosphate aldolase protein-coding 1346784 DERL1 Der1-like domain family, member 1 1580863 15215855,15215856,16449189,19114714,18927294,18227067,18205950,18094046,18048502,17872946,17453418,16954204,16449195,16344560,16289116,16186510,16186509,16055502,15489334,14702039,12975309,12477932,11827452,9110174,8619474,18199748,18216283,18675248,16901789,18029348,18555783,19818707,17207965 79139 HC289752,NM_024295,NM_001134671,AC104316,CH471060,CQ859802,AF131854,AI755206,AK124086,AK303826,AK313675,AY358818,BC002457,BC037174,BC050691,CR610166,DA800358,AK023846 CBJ06471,NP_077271,NP_001128143,EAW92013,EAW92014,EAW92015,EAW92016,EAW92017,CAH25951,BAG54003,BAG64773,BAG36426,AAQ89177,AAH02457,Q9BUN8,Q9P1C8,ADQ31720 Hs.241576 DER-1|DER1|FLJ13784|FLJ42092|MGC3067|PRO2577 DERtrin-1|degradation in endoplasmic reticulum protein 1|der1-like protein 1|derlin-1 protein-coding 1344289 DERL2 Der1-like domain family, member 2 Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM] 1580863 17207965,15215855,16912321,16449194,16449192,16186509,15489334,12477932,10810093,16449189,11500051,18216283 51009 NM_016041,AC004148,CH471108,AF132289,AF151859,AF208065,AF242523,AK024574,BC009549,BC010890,CR457202 ADQ32689,NP_057125,EAW90329,AAG43049,AAD34096,AAL14869,AAF99603,AAH10890,CAG33483,Q9GZP9 Hs.286131 CGI-101|F-LAN-1|F-LANa|FLANa DERtrin-2|carcinoma related|degradation in endoplasmic reticulum protein 2|der1-like protein 2|derlin-2 protein-coding 1353725 DERL3 Der1-like domain family, member 3 The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. 737633,1580863 16449189,16449193,16449191,15489334,15461802,15215855,14702039,12477932,10591208,8889548,18216283 737633 91319 NM_198440,NM_001002862,NM_001135751,AB049213,AP000350,CH471095,AA985493,AK092582,AK096976,AK125830,AL389876,AW135031,BC057830,BM792257,CA313370,CR456372,T79532 Q96Q80,CAK54508,CAK54807,NP_940842,NP_001002862,NP_001129223,BAB68409,EAW59609,EAW59610,EAW59611,EAW59612,BAC04919,BAC86311,AAH57830,CAG30258,Q8N8C7 Hs.593679 C22orf14|IZP6|LLN2|MGC71803|derlin-3 DERtrin 3|DERtrin-3|degradation in endoplasmic reticulum protein 3|der1-like protein 3|derlin 3|derlin-3 protein-coding 1347887 DES desmin This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq] 1580290,1580863 11353857,9736733,9697706,9415431,19473514,19252475,19165527,19005210,18691435,18061454,17924085,17872945,17720647,17626518,17436150,17418574,17325244,17188893,16761416,16545539,16439510,16009553,15759133,15731013,15489334,15468102,14702039,14648196,12686604,12620971,12609507,12477932,12477713,12064939,11694502,11668632,11073539,11061256,10574968,10545598,10510252,9261168,8792816,8641565,8624579,8186663,7672786,2939097,2673923,2670738,8997639,8424456,2201025,11309420,12358155,20423733,11581269,11916970,15862967,19460759,19763525,19879535,20031618,20133133,20171226,20448486,20474083,19913121,20628086,20718792,20936779 1580290 1674 NG_008043,AC053503,AF189280,AF189281,AY114212,AY816189,AY816190,AY816191,CH471063,DQ301782,M63391,NM_001927,AF055081,AF055082,AF055083,AF137053,AF167579,AF486807,AF487828,AF521879,AF527578,AJ132926,AK022087,AK097038,AK098332,AK123787,AK300654,AL541778,AY083345,AY125465,BC010072,BC032116,BQ941246,CR617766,DQ104335,DQ104336,DQ104337,EF617312,U59167 NP_001918,AAY15051,AAG43459,AAG43460,AAM47026,AAV64888,AAV64889,AAV64890,EAW70739,EAW70740,EAW70741,ABC33803,AAA99221,AAC39938,AAC39939,AAC39940,AAF15400,AAG41217,AAL93205,AAL99078,AAN15036,AAN37810,CAB62389,BAG62342,AAL99215,AAM95238,AAH32116,AAZ17411,AAZ17412,AAZ17413,ABR08708,AAC50680,P17661,Q2PUK1,Q45VM6,Q45VM7,Q45VM8,Q53SB5,Q549R7,Q549R8,Q549R9,Q5RLN0,Q5RLN1,Q5RLN2,Q9GZR6,Q9H319,ABM83208,ABM86408 Hs.594952 CMD1I|CSM1|CSM2|FLJ12025|FLJ39719|FLJ41013|FLJ41793 desmin|intermediate filament protein protein-coding 1348990 DET1 de-etiolated homolog 1 (Arabidopsis) 17452440,16344560,15489334,14739464,14702039,12477932,16949367,16964240 55070 NM_001144074,NR_026645,NM_017996,AC013489,CH471101,AB073887,AK000965,AK054603,BC001242,BC064591,BC073867,BC109060,BC109061,DA655836 NP_001137546,NP_060466,EAX02003,EAX02004,EAX02005,EAX02006,BAA91447,BAG51398,AAH01242,AAI09061,AAI09062,Q7L5Y6 Hs.690871 FLJ10103|MGC126156|MGC126157 DET1 homolog|de-etiolated 1|de-etiolated-1 homolog protein-coding 1603056 DEXI dexamethasone-induced transcript 15489334,12477932,11306815,10332034,11472984,16169070 28955 NM_014015,AC133065,CH471112,AF108145,AF129929,AK314111,BC001083,BC037569,BC052989,BC071683,CR590912,CR596795,CR599313,CR607364,CR611608 NP_054734,EAW85166,EAW85167,AAC83382,BAG36804,AAH01083,AAH37569,AAH52989,AAH71683,O95424,ABM81712,ABM84868 Hs.592051,Hs.659355 MYLE dexamethasone-induced protein|dexamethasone-induced transcript protein-coding 1606338 DFFA DNA fragmentation factor, 45kDa, alpha polypeptide Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 9108473,17353931,15572351,9564035,19240061,18805449,18500556,18292826,17945178,17938174,17645689,16964243,16950395,16619042,16432220,16344560,10318789,9422506,9605855,9373149,8125298,12404116,16189514,15489334,15324660,14675622,12748178,12477932,12467059,12181128,12144788,11929840,11870543,11752060,11406587,11371636,11004695,10976014,10932250,10619428,10527861,10527860,10497265,10409614,18029348,20687965,16169070,19535198,19882353,20562859 1676 NM_004401,AL354956,CH471130,AF087573,AF103799,AK222546,AK313317,AU121791,BC000037,BC007112,BC007721,BE207821,BT006980,BU956486,CR596851,CR603712,U91985,NM_213566 NP_998731,NP_004392,CAI19196,CAI19197,EAW71655,EAW71656,EAW71657,EAW71658,AAD32953,AAF02419,BAD96266,BAG36122,AAH00037,AAH07112,AAH07721,AAP35626,AAC51249,O00273,Q53HN4,Q5T6G6 Hs.484782 DFF-45|DFF1|ICAD DFF45|DNA fragmentation factor 45 kDa subunit|DNA fragmentation factor subunit alpha|inhibitor of CAD protein-coding 731033 DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of these variants has not been determined. [provided by RefSeq] 1580863 14759258,12748178,12738667,12610505,12477932,11371636,19882353,9671700,10959840,15572351,9108473,18283539,18239742,17938174,17492772,17239993,16699957,16529748,16428311,16204257,16156899,16121124,16049016,16007181,15910001,15703174,15569712,15489334,15149602,15147901,10830907,10619428,10527861,10527860,10409614,9689044,9560346,9422506,12404116,17353931,10932250,20855536 1677 AL691523,CH471130,AB013918,AB028911,AB028912,AB028913,AF039210,AF064019,AF409060,AF409061,AF409062,NM_004402,AK290877,AK303065,AK309316,AY438267,AY438268,BC032827,BC048797 NP_004393,CAI17371,CAI17372,EAW71485,EAW71486,EAW71487,EAW71488,EAW71489,EAW71490,EAW71491,BAA32250,BAB40447,BAB40448,BAB40449,AAC39709,AAC39920,AAL02005,AAL02006,AAL02007,BAF83566,BAG64182,AAR05821,AAR05822,AAH32827,AAH48797,O76075,Q5SR21,Q96P72,Q96P73,Q96P74 Hs.133089 CAD|CPAN|DFF-40|DFF2|DFF40 DNA fragmentation factor 40 kDa subunit|DNA fragmentation factor subunit beta|OTTHUMP00000003634|OTTHUMP00000003673|caspase-activated DNase|caspase-activated deoxyribonuclease|caspase-activated nuclease protein-coding 1350243 DFN2 deafness, X-linked 2, perceptive, congenital 8968763 1679 1345979 DFN4 deafness, X-linked 4, congenital sensorineural 7942846 1680 1349218 DFN5 deafness, X-linked 5 1681 1352682 DFN6 deafness, X-linked 6, sensorineural 8872482 1682 1343685 DFN8 deafness, X-linked 8 1684 1351071 DFNA16 deafness, autosomal dominant 16 10364526 1694 1345143 DFNA18 deafness, autosomal dominant 18 11313754 85507 1343757 DFNA19 deafness, autosomal dominant 19 1696 1353995 DFNA21 deafness, autosomal dominant 21 10764236,10890148 192644 1348048 DFNA23 deafness, autosomal dominant 23 10777717 23724 1351423 DFNA24 deafness, autosomal dominant 24 10739769 23723 1347485 DFNA25 deafness, autosomal dominant 25 11115382 64944 1352666 DFNA27 deafness, autosomal dominant 27 23722 1345470 DFNA29 deafness, autosomal dominant 29 23720 1353444 DFNA30 deafness, autosomal dominant 30 11571554 23719 1351776 DFNA31 deafness, autosomal dominant 31 14729819 347737 1343687 DFNA32 deafness, autosomal dominant 32 94138 1347641 DFNA33 deafness, autosomal dominant 33 29779 1348936 DFNA34 deafness, autosomal dominant 34 94139 1347804 DFNA35 deafness, autosomal dominant 35 94140 1353026 DFNA37 deafness, autosomal dominant 37 317718 1346533 DFNA4 deafness, autosomal dominant 4 7655461 1686 1345466 DFNA40 deafness, autosomal dominant 40 63945 1347859 DFNA41 deafness, autosomal dominant 41 94142 1349035 DFNA42 deafness, autosomal dominant 42 170507 1351555 DFNA43 deafness, autosomal dominant 43 12676899 192676 1343670 DFNA44 deafness, autosomal dominant 44 12483295 338335 1352889 DFNA45 deafness, autosomal dominant 45 246287 1342813 DFNA46 deafness, autosomal dominant 46 246288 1350732 DFNA47 deafness, autosomal dominant 47 12634859 246289 1354187 DFNA48 deafness, autosomal dominant 48 12596055 246290 1344081 DFNA49 deafness, autosomal dominant 49 14627674 317664 1349553 DFNA5 deafness, autosomal dominant 5 Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599770 9450185,9110174,8619474,8589696,16169070,19911014,20379614,20403915,9771715,18346456,18223688,17868390,17616391,17427029,16897187,16344560,15489334,14702039,14676472,14559215,12853948,12853124,12477932,12461698,11058868,9523727 1599770 1687 NM_004403,NM_001127453,NG_011593,AC003093,CH236948,CH471073,AF007790,AF073308,AF075171,AF131765,AJ270686,AK094714,AK290775,AK314402,BC019689,BC099911,BC125065,BC125066,BX647389,CR595348,CR605051,CR618731,DA197867,DA820184,DA908548,NM_001127454 NP_001120926,NP_004394,NP_001120925,AAB83938,EAL24246,EAW93812,EAW93813,EAW93814,AAC39635,AAC69324,AAC69326,AAD20039,BAG52917,BAF83464,BAG37026,AAH99911,AAI25066,AAI25067,O60443 Hs.520708 ICERE-1 OTTHUMP00000202026|inversely correlated with estrogen receptor expression 1|non-syndromic hearing impairment protein 5|nonsyndromic hearing impairment protein protein-coding 1349658 DFNA50 deafness, autosomal dominant 50 14757864 317665 1347217 DFNA51 deafness, autosomal dominant 51 286750 1343994 DFNA52 deafness, autosomal dominant 52 12522684 347713 1342877 DFNA53 deafness, autosomal dominant 53 353347 1351469 DFNA54 deafness, autosomal dominant 54 15490091 448962 1344040 DFNA7 deafness, autosomal dominant 7 8842739 1689 1348716 DFNB13 deafness, autosomal recessive 13 9781028 1705 1351998 DFNB14 deafness, autosomal recessive 14 9887371 1706 1346199 DFNB15 deafness, autosomal recessive 15 9286457 1707 1350590 DFNB17 deafness, autosomal recessive 17 9674898 1709 1353432 DFNB19 deafness, autosomal recessive 19 1712 1352532 DFNB20 deafness, autosomal recessive 20 10196710 1713 1345504 DFNB24 deafness, autosomal recessive 24 23716 1349702 DFNB25 deafness, autosomal recessive 25 23715 1352391 DFNB26 deafness, autosomal recessive 26 11101839 23714 1347115 DFNB27 deafness, autosomal recessive 27 11175289 23713 1349874 DFNB28 deafness, autosomal recessive 28 23712 1349509 DFNB31 deafness, autosomal recessive 31 In rat brain, Cip98 interacts with a calmodulin-dependent serine kinase, CASK (MIM 300172), and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS) (Yap et al., 2003 [PubMed 12641734]). Mutations in this gene, also known as WHRN, cause DFNB31 (MIM 607084).[supplied by OMIM] 1580603 17171570,16434480,19308021,16344560,14702039,12833159,12641734,12477932,12421765,11973626,10819331,20583170,15590698,17584769,19724906,20352026,20414141 1580603 25861 NM_015404,NM_001083885,AL138895,CH471090,AB040959,AK022854,AK056190,AL110228,AL557526,BC011918,BC014524,BC136416,BC142614,BC142684,BF969269,BX329269,DA502065,NG_016700,NM_001173425 Q5TAV2,NP_001077354,CAI17244,CAI17245,CAI17246,CAI17247,EAW87420,EAW87421,EAW87422,EAW87423,BAA96050,BAB14275,CAB53685,AAI36417,AAI42615,AAI42685,Q5TAV1,NP_056219,Q9P202,NP_001166896 Hs.93836 CIP98|DKFZp434N014|KIAA1526|RP11-9M16.1|USH2D|WHRN|WI CASK-interacting protein CIP98|autosomal recessive deafness type 31 protein|whirlin protein-coding 1352253 DFNB32 deafness, autosomal recessive 32 12634867 113877 1343011 DFNB33 deafness, autosomal recessive 33 170508 1345587 DFNB34 deafness, autosomal recessive 34 245821 1353832 DFNB35 deafness, autosomal recessive 35 12529709 246148 1344391 DFNB36 deafness, autosomal recessive 36 1352572 DFNB38 deafness, autosomal recessive 38 12890929 337991 1352587 DFNB39 deafness, autosomal recessive 39 14512973 317720 1344004 DFNB40 deafness, autosomal recessive 40 14512974 379003 1349449 DFNB42 deafness, autosomal recessive 42 449482 1342725 DFNB43 deafness, autosomal recessive 43 449481 1346013 DFNB44 deafness, autosomal recessive 44 15583425 449484 1347427 DFNB45 deafness, autosomal recessive 45 449483 1350846 DFNB46 deafness, autosomal recessive 46 449488 1349488 DFNB47 deafness, autosomal recessive 47 449489 1352987 DFNB48 deafness, autosomal recessive 48 404086 1342672 DFNB49 deafness, autosomal recessive 49 15538632 404087 1344042 DFNB5 deafness, autosomal recessive 5 8541854 1697 1349300 DFNB50 deafness, autosomal recessive 50 404542 1344215 DFNB51 deafness, autosomal recessive 51 448963 1349714 DFNB53 deafness, autosomal recessive 53 494120 1345852 DFNB55 deafness, autosomal recessive 55 494148 1353785 DFNB56 deafness, autosomal recessive 56 494149 1352291 DFNB59 deafness, autosomal recessive 59 The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq] 19913121,20628086,20739942,17718865,17373699,17301963,16804542,15489334,12477932 494513 NM_001042702,NG_012186,AC009948,AW006294,BC020859,BC127902,BC127903,BC146938,DQ365827 NP_001036167,AAI27903,AAI27904,AAI46939,ABC94894,Q0ZLH3 Hs.87734 PJVK OTTHUMP00000205647|OTTHUMP00000205649|autosomal recessive deafness type 59 protein|pejvakin protein-coding 1343003 DFNM1 deafness (recessive, nonsyndromic) modifier 1 54362 1354344 DFNM2 deafness (mitochondrial) modifier 2 11388757,10788333 494142 731052 DGAT1 diacylglycerol O-acyltransferase homolog 1 (mouse) The enzyme encoded by this gene utilizes diacylglycerol and fatty acyl CoA as substrates in order to catalyze the final stage of triacylglycerol synthesis. It is also involved in cellular as well as physiological metabolic processes. [provided by RefSeq] 1580863,1625599,734536,1625597,1300048 11672446,9789033,18238778,15308631,19197254,18768481,18757836,16920778,16894240,16870193,16306352,15489334,15258194,14569040,14557275,12477932,12401709,12123490,11181995,10802663,8889548,9756920,20935628,8944226,20167659 1625599,734536,1625597 8694 AC142402,AF205589,CH471162,AB057815,AF059202,BC006263,BC015762,BC023565,BC106084,BC150649,BI907285,CK300256,CR619886,CR622706,NM_012079,CR624618,CR625143,AC233992 NP_036211,EAW82127,EAW82128,EAW82129,EAW82130,BAC66170,AAC63997,AAH06263,AAH15762,AAH23565,AAI50650,O75907,Q9BRH5,ABM83212,ABM86412 Hs.521954 ARGP1|DGAT ACAT related gene product 1|ACAT-related gene product 1|acyl coenzyme A:cholesterol acyltransferase related gene 1|diacylglycerol O-acyltransferase 1|diacylglycerol O-acyltransferase homolog 1|diglyceride acyltransferase protein-coding 1352737 DGAT2 diacylglycerol O-acyltransferase homolog 2 (mouse) Acyl-CoA:diacylglycerol acyltransferase, or DGAT (EC 2.3.1.20), is responsible for the synthesis of triglycerides. It catalyzes a reaction in which diacylglycerol is covalently joined to long chain fatty acyl-CoAs.[supplied by OMIM] 1580863 11481335,19049983,18980578,18757836,17940217,17504763,17477860,16870193,15489334,15258194,15221005,14970677,14702039,14521909,12975309,12477932,20379614,8944226,17207965,19913121,20628086,20679960 84649 NM_032564,AP001922,AP003031,CH471076,AB048286,AB073384,AF384161,AK074203,AK091870,AL834287,AY358532,AY780647,BC015234,CR616126,CR749377,DB462004,HB886769,HB911619,HC944178,HC969028 NP_115953,EAW74984,EAW74985,BAB40641,BAD38635,AAK84176,CAD38961,AAQ88896,AAV35727,AAH15234,CAH18230,Q96PD7,CBF67543,CBF90902,CBU92416,CBV04422,ADQ32768 Hs.129798 DKFZp686A15125|GS1999FULL|HMFN1045 diacylglycerol O-acyltransferase 2|diacylglycerol O-acyltransferase homolog 2|diacylglycerol O-acyltransferase-like protein 2|diglyceride acyltransferase 2 protein-coding 1602812 DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 15772651,15671038,14970677,14702039 347516 HB886749,HB911599,HC944158,HC969008,NM_198512,AL139111,AL357752,CH471132,AK129500,BN000157 CBF67533,CBF90892,CBU92406,CBV04412,NP_940914,CAI41588,CAI41486,EAX05354,BAC85167,CAD89268,Q6ZPD8,AAI72336 Hs.454355 DC3|FLJ25989 diacylglycerol O-acyltransferase 2 like 6|diacylglycerol O-acyltransferase 2-like protein 6|diacylglycerol O-acyltransferase candidate 3|hDC3 protein-coding 1354149 DGCR DiGeorge syndrome chromosome region 1714 1353708 DGCR10 DiGeorge syndrome critical region gene 10 8889548,8776594 26222 NR_026651,AC000095,BM681417,BU584104,L77559 Hs.681383 DGS-B miscrna 1351059 DGCR11 DiGeorge syndrome critical region gene 11 8776594 25786 NR_024157,AC004461,AK098432,CR607605,L77561 Hs.720269 DGS-D miscrna 1349814 DGCR12 DiGeorge syndrome critical region gene 12 8776594 25784 L77562 Hs.517357 DGS-E protein-coding 1344083 DGCR13 DiGeorge syndrome critical region gene 13 8776594 26221 L77565 1317866 DGCR14 DiGeorge syndrome critical region gene 14 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq] 1580863 8703114,18029348,17081983,16432632,15489334,15461802,14702039,12477932,11991638,11984006,11751918,9499415,9405660,9383280,9063747,8786095,8776594,19913121 8220 NG_008320,AC004471,CH471176,AK095932,BC003015,BC006542,BC037829,BC069275,BM545545,CR456344,CR593229,CR593494,CR595570,CR602190,CR602425,CR602690,CR607045,CR609987,CR611603,CR614835,CR615947,NM_022719,CR617601,CR620584,CR621056,CR622732,CR623354,CR625279,L77565,L77566,L78010 NP_073210,EAX03053,EAX03054,EAX03055,EAX03056,BAG53170,AAH03015,AAH06542,CAG30230,AAL40039,Q96DF8,CAK54486,CAK54785,ABM81588,ABM84768 Hs.517407,Hs.694070 DGCR13|DGS-H|DGS-I|DGSH|DGSI|ES2|Es2el DiGeorge syndrome critical region gene 13|DiGeorge syndrome critical region gene DGSI|DiGeorge syndrome gene H|DiGeorge syndrome gene I|Protein DGCR13|diGeorge syndrome critical region 13|diGeorge syndrome critical region 14|diGeorge syndrome protein H|protein DGCR14 protein-coding 1321547 DGCR2 DiGeorge syndrome critical region gene 2 Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. [provided by RefSeq] 1580863 7655455,18797402,17081983,16783572,16344560,15489334,15461802,15231748,12477932,8776594,8724849,8630060,7633403,19668116,19906316,3770751 9993 CR602533,CR618211,CR936871,D79985,DA494775,FJ032369,L46352,L77560,X83545,X84076,NM_005137,AC000095,AC004461,AC004462,AC004471,CH471176,AK291670,AK295697,AK296337,AK303130,AK304382,AW502246,BC020339,BC032430,BC035425,BC040500,CR456433,NG_021333,NM_001173533,NM_001173534,NM_001184781,NR_033674 CAI59783,BAA11480,ACI00235,AAB59561,CAA58536,CAA58883,P98153,Q5CZ70,Q8IWC8,CAK54424,CAK54723,ABM85086,CAG30319,NP_005128,EAX03061,EAX03062,EAX03063,BAF84359,BAH12160,BAH12321,BAH13903,BAH14171,AAH32430,AAH40500,NP_001167004,NP_001167005,NP_001171710 Hs.517357 DGS-C|DKFZp686I1730|IDD|KIAA0163|LAN|SEZ-12 DiGeorge syndrome critical region protein 2|integral membrane protein DGCR2/IDD|integral membrane protein deleted in DiGeorge syndrome protein-coding 1353254 DGCR5 DiGeorge syndrome critical region gene 5 (non-protein coding) 11258795,8659529 26220 NR_002733,AC007326,AB051434,X91348 Hs.646438 KIAA1647|NCRNA00037 miscrna 1319711 DGCR6 DiGeorge syndrome critical region gene 6 DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq] 1580863 20036641,20398908,8733130,15821931,15489334,15461802,12477932,12107411,11959925,11891283,11157784 8214 NM_005675,NG_009052,AC007326,CH471176,AF228707,AK098780,AK315115,BC033306,BC047039,BQ639188,CD368547,CR456434,CR542133,DW432909,X96484 NP_005666,EAX03075,EAX03076,EAX03077,EAX03078,AAK15584,BAG37572,AAH47039,CAG30320,CAG46930,CAA65339,Q14129,Q6FGH4,CAK54425,CAK54724 Hs.474185 DiGeorge syndrome critical region protein 6|protein DGCR6 protein-coding 1343811 DGCR6L DiGeorge syndrome critical region gene 6-like This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq] 1580863 16189514,15821931,15489334,15461802,14702039,12477932,11157784,19778628 85359 AC007663,NM_033257,CH471176,AF228708,AK001528,AK289952,AK307210,AK310899,BC000682,CR456361,CR598657,CR602164,CR621073 CAK54502,CAK54801,NP_150282,EAX02972,EAX02973,EAX02974,AAK15585,BAG50932,BAF82641,AAH00682,CAG30247,Q9BY27 Hs.410965 FLJ10666 DiGeorge syndrome critical region gene 6 like|diGeorge syndrome critical region 6-like protein|protein DGCR6L protein-coding 1346216 DGCR7 DiGeorge syndrome critical region gene 7 11434309 266621 AF130850,X99536 Hs.657950 protein-coding 1314941 DGCR8 DiGeorge syndrome critical region gene 8 1580863,4144851 11076863,9373149,8125298,18029348,20732906,20819778,12477932,15574589,15531877,11256614,19138993,19135890,19047128,17765891,17704815,17159994,16751099,16381901,15589161,15489336,15489334,15461802,14702039,12705904,20585341,20721975,16344560,19759829,19851984,19902333,20506313 4144851 54487 HC879390,HD033099,NM_022720,BC037564,BC071568,BC078147,BQ227899,BX649187,CR456356,BC009984,AB050770,AC006547,CH471176,AA737782,AF165527,AK025427,AK025539,AK025780,AK094381,AK222796,AK313357,AY189282,BC009323,BQ001948,DA433651,NG_022931,NM_001190326 CBM42911,CBV35644,AAH09984,AAH78147,CAE46205,CAG30242,Q53GY5,Q8WYQ5,CAL37531,CAK54497,CAK54796,NP_073557,BAB83032,EAX02998,EAX02999,EAX03000,AAF82263,BAB15165,BAB15238,BAD96516,BAG36158,AAO86726,AAH09323,NP_001177255 Hs.643452,Hs.713579 C22orf12|DGCRK6|Gy1|pasha DiGeorge syndrome critical region 8|OTTHUMP00000197674|microprocessor complex subunit DGCR8 protein-coding 1343276 DGCR9 DiGeorge syndrome critical region gene 9 8776594 25787 NR_024159,AC000095,BC036821,L77571 Hs.106311 DGS-A miscrna 732760 DGKA diacylglycerol kinase, alpha 80kDa The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580863 16341674,7959783,8180475,2175712,18424699,18004883,17911109,17276726,15928040,15870081,15489334,15122338,15117825,14734770,14702039,14559993,12626538,12477932,11285286,10358029,10206945,8626603,19751727,10970854,17700527,17898083,20160093 1606 NM_201444,NM_201445,NM_201554,AC025162,CH471054,AF064767,AF064768,AF064769,AF064770,AF064771,AI815678,AK122973,AK127093,AK226134,AK303320,NM_001345,AK307685,AK309939,AK310600,AY930112,BC023523,BC031870,BF448612,BM836118,BM910598,BQ943057,CR616473,CR625683,X62535 NP_001336,NP_958852,NP_958853,NP_963848,EAW96849,EAW96850,EAW96851,AAC34802,AAC34803,AAC34804,AAC34805,AAC34806,BAG64388,AAY20994,AAH23523,AAH31870,CAA44396,O75484,P23743,Q3ZE25,ABM82643,ABM85820 Hs.524488 DAGK|DAGK1|DGK-alpha|MGC12821|MGC42356 80 kDa diacylglycerol kinase|DAG kinase alpha|diacylglycerol kinase alpha|diacylglycerol kinase, alpha (80 kda)|diglyceride kinase alpha protein-coding 731815 DGKB diacylglycerol kinase, beta 90kDa Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1300048 17353931,18062770,16344560,15489334,14702039,12853948,12477932,11719522,9872452,7689223,19176441,20081858,20185807,20379614,20419449,20490451,12690205,19913121,20571754,20628086,20677014,20889853 1607 NM_004080,NM_145695,AC005039,AC005248,AC006150,AC011229,AC073258,AC105459,AX032742,AX032745,CH236948,CH471073,AB018261,AK124856,AK295668,AK304719,BC105005,BC143632,BC143633,DA321150 NP_004071,NP_663733,AAS07495,AAC25525,AAP21868,AAS07533,AAP22362,CAC09945,CAC09946,EAL24292,EAL24293,EAW93663,EAW93664,BAA34438,BAH12149,BAH14245,AAI05006,AAI43633,Q9Y6T7 Hs.567255 DAGK2|DGK|DGK-BETA|KIAA0718 90 kDa diacylglycerol kinase|DAG kinase beta|OTTHUMP00000201739|OTTHUMP00000201743|OTTHUMP00000201744|OTTHUMP00000201745|diacylglycerol kinase beta|diacylglycerol kinase, beta|diglyceride kinase beta protein-coding 1323099 DGKD diacylglycerol kinase, delta 130kDa This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 10082674,20064931,20379614,20705733,12200442,8626538,18334213,18267070,17357084,15489334,15228384,12810723,12477932,12084710,11809841,11309392,8590280,16169070 8527 NM_152879,NM_003648,AC013726,AC019221,CH471063,AB078966,AK130440,AK307426,AK308846,AK311044,BC006561,BC032102,CR624948,D63479,D73409 NP_690618,NP_003639,AAY14862,AAY24321,EAW71047,EAW71048,EAW71049,EAW71050,BAC11809,BAC85352,AAH06561,BAA09766,BAA11134,Q16760,Q53SE4,Q53SV4,Q6ZNX6 Hs.610488,Hs.471675 DGKdelta|FLJ26930|KIAA0145|dgkd-2 130 kDa diacylglycerol kinase|DAG kinase delta|DGK-delta|diacylglycerol kinase delta|diglyceride kinase delta protein-coding 1347499 DGKE diacylglycerol kinase, epsilon 64kDa Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq] 1580863 19744926,8626589,17353931,19329342,18391951,18004883,17455907,16344560,14702039,12477932,10571048,10051413,8889548,20546612 8526 NM_003647,AC015912,AC106858,AF136745,CH471109,AB209365,AK057591,AK129803,AK293039,AK310668,AL555194,BC022297,BC130629,BC130631,BM682264,CR622919,DB221284,U49379 Q8TBM4,Q59FU4,NP_003638,AAD45666,EAW94526,BAD92602,BAF85728,AAH22297,AAI30630,AAI30632,AAC50497,P52429,ADR83069 Hs.239514 DAGK5|DAGK6|DGK DAG kinase epsilon|DGK-epsilon|diacylglycerol kinase epsilon|diglyceride kinase epsilon protein-coding 733742 DGKG diacylglycerol kinase, gamma 90kDa This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300048,1580863 8034597,19079260,17803461,16905533,16407189,16288460,15578578,15212759,15194113,15150663,15102830,12941073,12732202,12477932,10071200,9003401,8889548,20816195,20200978,20215397,20379614 1608 NM_001080745,NM_001080744,NM_001346,AC007917,AC112649,AC117414,AF020945,AB209033,AK304440,AK309682,AK314192,AY737485,BC089411,BC112363,BM669549,D26135 NP_001074214,NP_001074213,NP_001337,AAC04686,BAD92270,BAH14187,BAG36871,AAW63408,AAH89411,AAI12364,BAA05132,P49619,Q2M589,Q59GS6 Hs.683449 DAGK3|DGK-GAMMA|MGC104993|MGC133330 DAG kinase gamma|diacylglycerol kinase gamma|diacylglycerol kinase, gamma|diacylglyerol kinase gamma|diglyceride kinase gamma protein-coding 1352279 DGKH diacylglycerol kinase, eta This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family of proteins, specifically the type II DGK subfamily. Members of this family are involved in regulating the intracellular concentrations of diacylglycerol and phosphatidic acid. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 19328558,19308021,17486107,15489334,15057823,14702039,12810723,12477932,20733578,9438377,8702685,19478689,19710016,19818381,20189936,20379614 160851 NM_178009,NM_152910,AL136527,AL139328,AL157932,CH471075,AB078967,AB078968,AK098302,AK122909,AK289546,AK302631,AK302727,AL833883,BC043292,BC044822 NP_821077,NP_690874,CAH71399,CAM14245,CAI16894,CAM23676,CAH71062,CAM13770,EAX08671,EAX08672,EAX08673,EAX08674,EAX08675,BAC66960,BAC66961,BAC05280,BAF82235,BAG63873,BAG63946,CAD38739,AAH43292,Q86XP1 Hs.659437 DGKeta|DKFZp761I1510 DAG kinase eta|DGK-eta|diacylglycerol kinase eta|diglyceride kinase eta protein-coding 1343674 DGKI diacylglycerol kinase, iota This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq] 1302755,1580863 20379614,9830018,17986458,19065143,14702039,12690205,10706894 1302755 9162 NM_004717,AC009179,AC009245,AC022173,AC078842,AC090498,AF219939,CH236950,CH471070,AB209167,AK091081 NP_004708,AAF43006,EAL24051,EAW83873,EAW83874,EAW83875,EAW83876,BAD92404,BAG52281,O75912,Q59GE2 Hs.242947 DGK-IOTA DAG kinase iota|OTTHUMP00000208493|OTTHUMP00000208494|OTTHUMP00000208597|diacylglycerol kinase iota|diglyceride kinase iota protein-coding 1603361 DGKK diacylglycerol kinase, kappa 12477932,16210324,18029348,21113153 139189 NM_001013742,AL357894,AL591367,CH471180,AB183864,BC137319,BC137320 NP_001013764,EAW89919,BAD86792,AAI37320,AAI37321,Q5KSL6 Hs.631770 142 kDa diacylglycerol kinase|DAG kinase kappa|DGK-kappa|diacylglycerol kinase kappa|diglyceride kinase kappa protein-coding 1318208 DGKQ diacylglycerol kinase, theta 110kDa The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq] 1580863 17664281,18985386,12477932,9438377,9099683,8626538,8617502,19336002,20070850,20736409,10066731,15632189,12799190,20057501 1609 NM_001347,GU727647,AC019103,CH471131,AB209503,BC063801,L38707 NP_001338,ADU87648,EAW82630,EAW82631,EAW82632,BAD92740,AAH63801,AAA98749,P52824,Q59FF7 Hs.584858 DAGK|DAGK4|DAGK7 DAG kinase theta|DGK-theta|OTTHUMP00000217323|diacylglycerol kinase theta|diglyceride kinase theta protein-coding 733860 DGKZ diacylglycerol kinase, zeta 104kDa The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863,1300048 8626588,9716136,16286473,19211846,18694729,18004883,17351151,17081983,15632115,15157668,14707140,14702039,14551255,12890670,12883552,12477932,20694011,12070163,12015310,11352924,11257115,11078732,9373149,9159104,8125298,16169070,17350623,17664281,19308020 8525 NM_201532,NM_201533,NM_003646,NM_001105540,AC116021,CH471064,AB209635,AK097960,AK123378,AK124594,AK124693,AK126970,AK225774,AK293615,AK294888,AK300577,AK303322,AK312398,BC008018,BC041770,BU849628,BX370257,BX648433,BX649190,CB959911,U51477,U94905,DC416889,NM_001199266,NM_001199267,NM_001199268 NP_963290,NP_963291,NP_003637,NP_001099010,EAW68006,EAW68007,EAW68008,EAW68009,BAD92872,BAC85599,BAC85894,BAC86770,BAH11548,BAH11915,BAH13309,BAH13942,AAH08018,AAH41770,CAE46208,AAC50478,AAB60859,Q13574,Q59F26,Q6MZE6,Q6ZT25,Q6ZVG7,Q6ZWA5,Q7Z5X8,Q8IVW9,NP_001186195,NP_001186196,NP_001186197 Hs.502461 DAGK5|DAGK6|DGK-ZETA|hDGKzeta DAG kinase zeta|diacylglycerol kinase zeta|diacylglycerol kinase, zeta 104kDa|diglyceride kinase zeta protein-coding 4889297 DGKZP1 diacylglycerol kinase, zeta pseudogene 1 400126 AL512506,NG_005323 pseudo 1312453 DGUOK deoxyguanosine kinase In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq] 1580863,1601052 8692979,18600530,18205204,17490647,17073823,17065091,15883261,15639197,15489334,12535661,12477932,12210798,12205643,12054684,11687800,11427893,11337467,11294860,10951205,8975728,8706825,15150663,19394258,19502998,19900589,20843780,20877624 1601052 1716 NM_080916,NM_080918,NG_008044,AC073046,CH471053,U62042,U81499,AI201630,AU099795,BC001121,BC015757,BC024019,CR601207,U41668,X97386,HQ206059,HQ206060,HQ206061,HQ206062,HQ206063,HQ206064,HQ206065,HQ206034,HQ206035,HQ206036,HQ206037,HQ206038,HQ206039,HQ206040,HQ206041,HQ206042,HQ206043,HQ206044,HQ206045,HQ206046,HQ206047,HQ206048,HQ206049,HQ206050,HQ206051,HQ206052,HQ206053,HQ206054,HQ206055,HQ206056,HQ206057,HQ206058,HQ206026,HQ206027,HQ206028,HQ206029,HQ206030,HQ206031,HQ206032,HQ206033 NP_550438,NP_550440,AAX88910,EAW99704,EAW99709,EAW99710,AAB48932,AAB39858,AAH01121,AAH15757,AAH24019,AAC50624,CAA66054,P78533,Q16854,Q7L1W9,Q9BVK7,ADP91894,ADP91895,ADP91896,ADP91897,ADP91898,ADP91899,ADP91900,ADP91901,ADP91902,ADP91903,ADP91904,ADP91905,ADP91906,ADP91907,ADP91908,ADP91909,ADP91910,ADP91911,ADP91912,ADP91913,ADP91914,ADP91915,ADP91916,ADP91917,ADP91918,ADP91919,ADP91920,ADP91921,ADP91922,ADP91923,ADP91924,ADP91925,ADP91926,ADP91927,ADP91928,ADP91929,ADP91930,ADP91931,ADP91932,ADP91933,ADP91934,ADP91935,ADP91936,ADP91937,ADP91938,ADP91939,ADP91940,ADP91941,ADP91942,ADP91943,ADP91944,ADP91945,ADP91946,ADP91947,ADP91948,ADP91949,ADP91950,ADP91951,ADP91952,ADP91953,ADP91954,ADP91955,ADP91956,ADP91957,ADP91958,ADP91959,ADP91960,ADP91961,ADP91962,ADP91963,ADP91964,ADP91965,ADP91966,ADP91967,ADP91968,ADP91969,ADP91970,ADP91971,ADP91972,ADP91973 Hs.469022 MTDPS3|dGK deoxyguanosine kinase, mitochondrial|mitochondrial deoxyguanosine kinase protein-coding 1315197 DHCR24 24-dehydrocholesterol reductase This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq] 1600897,1580863,2316868,2316857 11519011,15577914,15688385,11007892,16407971,12457401,19336370,19325144,18815215,18762779,18660489,18499757,18194465,17984220,17855807,17579359,17510943,16762343,15954227,15489334,15342556,15001630,12477932,7584028,7584026,20465827,20061631,20634891,20689807,19520779,19815556,19861417,4359325,20166102 1600897,2316868,2316857 1718 NG_008839,AC096536,AF398341,CH471059,AB073391,AF261758,AI952034,AK298414,AK302774,AK304302,AK304421,AK304437,AK316419,NM_014762,BC004375,BC011669,BP200916,BQ439951,CR609488,D13643,AK316427 NP_055577,AAL15644,EAX06663,EAX06664,BAE45721,AAG17288,BAH12782,BAH13803,BAH14155,BAH14179,BAH14186,BAH14790,BAH14798,AAH04375,AAH11669,BAA02806,Q15392,Q3LIE7,ABM84331,ABM87722 Hs.498727 DCE|KIAA0018|Nbla03646|SELADIN1|seladin-1 24-dehydrocholesterol reductase|3 beta-hydroxysterol delta 24-reductase|3-beta-hydroxysterol delta-24-reductase|desmosterol-to-cholesterol enzyme|diminuto/dwarf1 homolog|seladin 1|selective AD indicator 1 protein-coding 731755 DHCR7 7-dehydrocholesterol reductase The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development (Moebius et al., 1998 [PubMed 9465114]).[supplied by OMIM] 1300048,734884,1580863,1600899,2316918,2316868,2316857 17965227,17855807,17595012,17441222,16497572,16344560,15979035,15954111,15776424,15521979,15489334,15286151,14981719,14556255,12949967,12833423,12794707,12477932,12116246,11857552,11767235,11562938,11503168,11427181,11298379,11175299,11161831,11111101,11078571,10995508,10814720,10719329,10677299,10602371,9683613,9653161,9634533,7560069,9878250,19336370,18660489,18249054,18006960,19365639,19390132,19406241,19598235,19940018,20418485,20541252,17353931,9465114,19913121,20628086,20634891,20635399 734884,1600899,2316918,2316868,2316857 1717 AI888720,NG_012655,NM_001163817,AF110060,AP002387,CH471076,AF034544,AF062481,NM_001360,AF067127,AF096305,AK289497,AK303881,AK309625,AK312775,BC000054,BU848891,CR597288,CR605911,CR609879,DA502590 NP_001157289,NP_001351,AAD24762,EAW74788,EAW74789,EAW74790,EAW74791,AAC05086,AAC18345,AAD02816,AAD09766,BAF82186,BAG64817,BAG35639,AAH00054,Q9UBM7,ABM82753,ABM85940 Hs.503134 SLOS 7-DHC reductase|7-dehydrocholesterol reductase|delta-7-dehydrocholesterol reductase|putative sterol reductase SR-2|sterol Delta(7)-reductase|sterol delta-7-reductase protein-coding 1323083 DHDDS dehydrodolichyl diphosphate synthase Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins.[supplied by OMIM] 15110773,15850770,15489334,14702039,14652022,12591616,12477932,20379614 79947 NM_024887,NM_205861,AL513365,HH766431,HH766477,CH471059,AB090852,AK023164,AK308187,BC003643,BC004117,BC034152,BQ028814,BX648507,FB335092,FB335138,AK297134,AK316485 NP_079163,NP_995583,CBX83986,CBX84009,CAI21491,CAI21492,CAI21493,CAI21494,CAI21495,CAI21496,CAI21497,CAI21498,CAI21499,EAX07806,EAX07807,EAX07808,EAX07809,EAX07810,EAX07811,EAX07812,BAC57588,BAB14439,AAH03643,AAH04117,AAH34152,Q5T0A2,Q5T0A3,Q5T0A7,Q86SQ9,CAR80515,CAR80538,BAH12505,BAH14856 Hs.369385 CIT|CPT|DS|FLJ13102|HDS OTTHUMP00000003665|OTTHUMP00000038071|OTTHUMP00000038072|cis-isoprenyltransferase|cis-prenyl transferase|dedol-PP synthase|dehydrodolichyl diphosphate synthase protein-coding 1323810 DHDH dihydrodiol dehydrogenase (dimeric) This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq] 1580863 19170196,19625176,19692168,19773279,10477285,18676680,18600452,12477932,11306093,11097839 27294 NM_014475,AC026803,CH471177,AB021933,BC032730,BF510979 NP_055290,EAW52414,BAA83490,AAH32730,Q9UQ10,ABM81808,ABM84962 Hs.631555 2DD|HUM2DD 3-deoxyglucosone reductase|D-xylose 1-dehydrogenase|D-xylose-NADP dehydrogenase|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase protein-coding 1321399 DHDPSL dihydrodipicolinate synthase-like, mitochondrial 737633 17207965,20877624,15489334,15164054,14702039,12477932,20797690 737633 112817 NG_027922,NM_138413,NM_001134670,AL355315,CH471066,AK094791,AK289440,BC011916,BC045550,BC057821 ADQ32501,NP_612422,NP_001128142,CAI15454,CAI15455,CAI15457,EAW49912,EAW49913,EAW49914,BAF82129,AAH11916,AAH45550,AAH57821,Q86XE5,ACE87207,ACE87218,ACE86528,ACE86538 Hs.180346 C10orf65|DHDPS2|DHDPSL|FLJ37472|FLJ56960|HP3|NPL2 DHDPS-like protein|N-acetylneuraminate pyruvate lyase 2 (putative)|dihydrodipicolinate synthase-like|dihydrodipicolinate synthase-like, mitochondrial|dihydrodipicolinate synthetase homolog 2|probable 2-keto-4-hydroxyglutarate aldolase|probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial|probable KHG-aldolase|protein 569272 protein-coding 736871 DHFR dihydrofolate reductase Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. [provided by RefSeq] 1298877,1580863 6687716,19527514,19493349,19461557,19353223,19336370,19161160,19064578,19064572,19055622,19048631,19022952,19019335,18988749,18818748,18799873,18785313,18682947,18676680,18636124,18451149,18247058,18093916,18056255,18045573,17917571,17683969,17597297,17486595,17449906,17413111,17336564,17237763,16969375,16735474,16467096,16124424,16116078,15817466,15755837,15489334,14735580,14679136,14664697,12812497,12788094,12612070,12588981,12477932,12384595,12096917,12084458,11996001,11964483,11779239,11448909,10898545,10749676,9374868,9119086,8976559,8559246,8527095,6750132,6504041,6323448,6306253,6235374,3185016,2859520,2592384,2248959,1935897,1731871,15039552,19170196,19196009,19360472,19533788,19536847,19578876,19625176,19666584,19683694,19692168,19706381,19727391,19776634,19861437,19898482,20031554,20237949,20347265,20472929,20834190,20948192,18498051,3383852,19913121,20544798,20615890,20628086,20634891,20670920,20737570 1298877 1719 NM_000791,AC008434,AC010270,CH471084,J00139,X00855,AA489055,AK293146,AK297302,AK308492,AK312642,BC000192,BC003584,BC009634,BC070280,BC071996,CB988944,EU145592,J00140,V00507,NG_023304 NP_000782,EAW95859,EAW95860,AAA58484,CAA25409,BAG56693,BAG59770,BAG35526,AAH00192,AAH03584,AAH70280,AAH71996,ABX57718,AAA58485,CAA23765,P00374,ABM83742,ABM87061 Hs.592364,Hs.648635 DHFRP1|DYR OTTHUMP00000222283|OTTHUMP00000222285|OTTHUMP00000222286|dihydrofolate reductase protein-coding 1346515 DHFRL1 dihydrofolate reductase-like 1 737633 17207965,18447718,15489334,14702039,12477932 737633 200895 NM_176815,AC130896,CH471052,AK122674,AL832912,BC045541,BC063379,CR606902,AW104373,NM_001195643 ADQ32471,NP_789785,EAW79895,EAW79896,BAG53658,CAH10617,AAH45541,AAH63379,Q86XF0,NP_001182572 Hs.718516 DHFRP4|FLJ16119 OTTHUMP00000213865|OTTHUMP00000213866|dihydrofolate reductase pseudogene 4|dihydrofolate reductase-like protein 1 protein-coding 1342824 DHFRP1 dihydrofolate reductase pseudogene 1 12657784,12925791,15039552,12096917,15489334,15681865,16222560,1731871,17569517,19196009,19478082,19719239,2248959,3383852,6235374,6323448,6687716,7890613,9374868,9719595,6961421,6306253 573971 NG_005427,AC016839,J00141 P00374 pseudo 1354176 DHFRP2 dihydrofolate reductase pseudogene 2 9689108,6961421,3341383 729816 NG_001113,AC004182,AL671883,J00143,J00144,J00145,AL669854,AL845443,BX248310,BX927178 pseudo 1345874 DHH desert hedgehog homolog (Drosophila) This gene encodes a member of the Hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq] 1601053,1580863 19074837,18788453,16390857,15839736,15489334,12477932,11990454,11435703,11017805,10773676,10640830,10050855,9811851,19561611,20081366 1601053 50846 NM_021044,NG_008973,AB010994,AC011603,CH471111,CS126483,AK313360,BC033507,U59748,CS464813 NP_066382,BAA24866,EAW58039,CAJ18811,BAG36160,AAH33507,AAB03398,O43323,CAM31804 Hs.524382 HHG-3|MGC35145 desert hedgehog homolog|desert hedgehog protein protein-coding 68497 DHODH dihydroorotate dehydrogenase The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq] 1580863,2316231,2316235 10727948,10673429,9693067,8925840,8211381,7487077,1446837,20877624,20399851,19605743,19915526,11012787,19207032,18951430,18672895,17004840,16344560,16341674,15489334,14702039,12477932,12052230,11248707,20220176 2316231,2316235 1723 NM_001361,AC009087,AC009127,CH471166,AK097300,AK292293,AU130529,BC065245,BE789211,BI253747,BM795077,CR593960,M94065,NG_016271 NP_001352,EAW59198,EAW59199,EAW59200,EAW59201,BAF84982,AAH65245,AAA50163,Q02127 Hs.654427 DHOdehase|POADS|URA1 dihydroorotate dehydrogenase, mitochondrial|dihydroorotate oxidase|human complement of yeast URA1 protein-coding 1346952 DHOF dermal hypoplasia, focal 1724 1602903 DHPS deoxyhypusine synthase The unusual amino acid hypusine is formed posttranslationally and is only found in a single cellular protein, eukaryotic translation initiation factor 5A. In the first step of hypusine biosynthesis, deoxyhypusine synthase catalyzes the NAD-dependent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the EIF5A precursor protein to form the intermediate deoxyhypusine residue. This gene consists of nine exons spanning 6.6 kb. Three transcript variants have been isolated. However, only transcript variant 1 encodes an active protein. The shorter variants may act as modulating factors of DHPS activity. [provided by RefSeq] 16452303,14622290,8549832,7673224,19055622,17353931,16189514,15489334,15100216,14749535,12788913,12562768,12477932,10229683,9666110,9493264,9110174,8812510,8619474,8615810,7929297,7750572,19060904,17207965 1725 BC014016,CR592989,CR601991,CR612211,CR613087,CR615848,CR616605,CR616850,CR622825,CR623822,CR625197,L39068,U26266,U32178,U40579,U79262,NM_013407,NM_001930,AC010422,AJ001701,CH471106,AK291553,AK300498,AK304780,AY336090,BC000333,NM_013406 AAH14016,AAA86282,AAB02175,AAB02179,AAA96151,AAB50208,P49366,Q5J8M5,ACE87164,ACE86483,AAH00333,NP_037538,NP_037539,NP_001921,CAA04940,EAW84287,EAW84288,EAW84289,EAW84290,EAW84291,EAW84292,EAW84293,EAW84294,BAF84242,BAG62212,BAG65534,AAR24620,ADQ32057 Hs.79064 DHS|MIG13 DHS|deoxyhypusine synthase|migration-inducing gene 13 protein-coding 1352104 DHRS1 dehydrogenase/reductase (SDR family) member 1 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 16189514,15489336,15489334,14702039,12477932,12153138,11230166,11076863,20877624,18029348,11256614,19027726,16381901,16344560 115817 NM_138452,NM_001136050,AL096870,CH471078,AF418205,AK058159,AK126383,AL050217,AL833917,BC014057,BC015943,BC036845,BX247980,CR591099,CR592622,CR598317,CR614520,CR625275,DB272453 NP_612461,NP_001129522,EAW66036,EAW66037,EAW66038,EAW66039,EAW66040,AAN32660,BAB71694,CAD38773,AAH14057,AAH15943,CAD62314,Q96LJ7,CAL37921,CAL38469 Hs.348350 DKFZp586I0523|FLJ14250|FLJ25430|MGC20204|SDR19C1 dehydrogenase/reductase SDR family member 1|short chain dehydrogenase/reductase family 19C, member 1 protein-coding 1601851 DHRS11 dehydrogenase/reductase (SDR family) member 11 19027726,15489334,14702039,12975309,12477932 79154 HB961756,HD019166,NM_024308,AC003042,CH471199,AB209247,AK026196,AK096551,AK315735,AY358712,BC002731,BG037061,CR457356,CR592298,CR625650 CBG15501,CBV28947,NP_077284,EAW57568,EAW57569,EAW57570,BAD92484,BAB15390,BAG38090,AAQ89074,AAH02731,CAG33637,Q59G62,Q6UWP2 Hs.462859 ARPG836|FLJ39232|MGC4172|SDR24C1 dehydrogenase/reductase SDR family member 11|short chain dehydrogenase/reductase family 24C, member 1|short-chain dehydrogenase/reductase protein-coding 1605940 DHRS12 dehydrogenase/reductase (SDR family) member 12 19027726,14702039,12477932,17207965 79758 NM_024705,NM_001031719,AL136525,AL162377,CH471075,AK023701,BC009825,BC026024 NP_078981,NP_001026889,CAH70586,CAI13427,EAX08884,EAX08885,EAX08886,EAX08887,EAX08888,EAX08889,BAB14646,AAH09825,AAH26024,A0PJE2,ADQ31839 Hs.266728 FLJ13639|SDR40C1 dehydrogenase/reductase SDR family member 12|short chain dehydrogenase/reductase family 40C, member 1 protein-coding 1603266 DHRS13 dehydrogenase/reductase (SDR family) member 13 19027726,12975309,12477932 147015 NM_144683,AC024267,CH471159,AK296017,AY358566,BC015582,BQ052759,CR591219,CR595762,CR597091,CR598291,CR617686 NP_653284,EAW51153,EAW51159,BAG58787,AAQ88929,AAH15582,Q6UX07 Hs.631760 MGC23280|SDR7C5 OTTHUMP00000163522|dehydrogenase/reductase SDR family member 13|short chain dehydrogenase/reductase family 7C, member 5 protein-coding 1321774 DHRS2 dehydrogenase/reductase (SDR family) member 2 1580863 16685466,7556196,11944995,1847869,11997086,19027726,15489334,14702039,12477932,9373149,8125298,17207965,20547751,16367916,19443906 10202 NM_182908,NM_005794,AF244132,AL135999,CH471078,AB209653,AK092834,AK222857,AK309945,AK309975,BC002786,BC007339,CR602571,CR610479,CR611371,CR620554,CR621782,CR624957,U31875 NP_878912,NP_005785,AAG33703,EAW66130,EAW66131,BAD92890,BAD96577,AAH02786,AAH07339,AAA82048,Q13268,Q59F08,ADQ32908 Hs.272499 HEP27|SDR25C1 OTTHUMP00000164602|dehydrogenase/reductase SDR family member 2|dehydrogenase/reductase member 2|dicarbonyl reductase HEP27|protein D|short chain dehydrogenase/reductase family 25C, member 1|short-chain alcohol dehydrogenase family member protein-coding 1313699 DHRS3 dehydrogenase/reductase (SDR family) member 3 Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM] 1580863 9705317,19027726,18676742,17286855,16710414,15489334,12975309,12477932,12226107,11861404,10800688,9373149,8125298,20379614 9249 NM_004753,AF179237,AL513016,AL592487,AL645761,CH471130,AF061741,AK222593,AK225057,AK310202,AK312961,AL039062,AY358093,BC002730,BF037805,BX648476,CR594468,CR607120,CR622920,DQ426869 ABD90534,O75911,Q0QD44,Q53HI7,Q5SUY4,ABM83932,ABM87251,NP_004744,AAD55402,CAH74172,CAI14999,CAI15000,EAW71743,AAC63263,BAD96313,AAQ88460,AAH02730,CAI46033,BAG35800 Hs.289347 RDH17|Rsdr1|SDR1|SDR16C1|retSDR1 DD83.1|retinal short-chain dehydrogenase/reductase 1|short chain dehydrogenase/reductase family 16C, member 1|short-chain dehydrogenase/reductase 1|short-chain dehydrogenase/reductase 3 protein-coding 732149 DHRS4 dehydrogenase/reductase (SDR family) member 4 70713,1580863 20525226,10333503,19027726,18754758,18571493,17230527,15489334,15473316,14702039,12975309,12477932,18029348,20877624 70713 10901 NM_021004,AL136419,AB045131,AF044127,AF064256,AK001870,AK308436,AK314448,AY071856,AY358638,AY616182,BC003019,BQ030242,BU529016,DQ325464,DQ338571,DQ344810,AA639837 NP_066284,BAB18775,AAD02292,AAQ13444,BAA91953,BAG37057,AAL61824,AAQ89001,AAT70757,AAH03019,ABC61320,ABC61321,ABD75823,Q6E0Y0,Q9BTZ2 Hs.692654,Hs.528385 CR|DHRS4L2|FLJ11008|NRDR|PHCR|PSCD|SCAD-SRL|SDR-SRL|SDR25C1|SDR25C2|humNRDR CR|NADP-dependent retinol dehydrogenase|NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenase|NADPH-dependent retinol dehydrogenase/reductase|PHCR|PSCD|carbonyl reductase|dehydrogenase/reductase (SDR family) member 4 like 2A|dehydrogenase/reductase SDR family member 4|peroxisomal short-chain alcohol dehydrogenase|short chain dehydrogenase/reductase family 25C, member 1|short chain dehydrogenase/reductase family 25C, member 2|short-chain dehydrogenase/reductase family member 4 protein-coding 1352138 DHRS4L1 dehydrogenase/reductase (SDR family) member 4 like 1 70713 10333503,12477932,12508121 70713 728635 NM_001082488,AL136295,BC171914,BC171918,GQ871921,GQ871922,GQ871923,GQ871924 NP_001075957,P0CG22 Hs.647569 SDR25C4 Putative dehydrogenase/reductase SDR family member 4-like 2|dehydrogenase/reductase (SDR family) member 4 like 1|putative dehydrogenase/reductase SDR family member 4-like 2|short chain dehydrogenase/reductase family 25C, member 4 protein-coding 1353509 DHRS4L2 dehydrogenase/reductase (SDR family) member 4 like 2 16204458,12477932,17207965,10333503,12508121,12975309,14702039,15473316,15489334,16344560,17230527,18754758,20525226 317749 NM_198083,AL136419,AI087304,AK301373,BC000663,BC006125,BC101812,BC101814,DB449220,DQ088987,DQ088988,NG_023545,AK021587,DA738374,DN237881,DN237882,GU564235,NM_001193635,NM_001193636,NM_001193637,AY616183,AY920361,AY920362,AY943857,GU564234 NP_932349,BAG62915,AAH00663,AAZ85982,Q6PKH6,ADQ32943,ADD92527,NP_001180564,NP_001180565,NP_001180566,AAT70758,AAX49568,ADD92526 Hs.528385,Hs.692654 FLJ11525|MGC905|SDR25C3 dehydrogenase/reductase (SDR family) member 4 like 2A3|dehydrogenase/reductase SDR family member 4-like 2|short chain dehydrogenase/reductase family 25C, member 3 protein-coding 1317573 DHRS7 dehydrogenase/reductase (SDR family) member 7 Short-chain dehydrogenases/reductases (SDRs), such as DHRS7, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM] 1580863 19027726,15489334,12975309,12508121,12477932,10810093,10800688 51635 NM_016029,AL163853,CH471061,AF126782,AF151844,AK313285,AL117420,AW161450,AY359031,BC000637,BC007337,CR616087,CR624637 NP_057113,EAW80769,EAW80770,AAF06941,AAD34081,BAG36093,CAH56402,AAQ89390,AAH00637,AAH07337,Q659E8,Q9Y394 Hs.59719 CGI-86|SDR34C1|retDSR4|retSDR4 2310016E22Rik|dehydrogenase/reductase SDR family member 7|retinal short-chain dehydrogenase/reductase 4|short chain dehydrogenase/reductase family 34C, member 1 protein-coding 1601764 DHRS7B dehydrogenase/reductase (SDR family) member 7B This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq] 19027726,12975309,12477932,11230166,10810093,16169070,19615732 25979 AY358498,BC004126,BC009679,CR457124,NM_015510,AC087393,CH471210,AF151851,AL117567 AAQ88862,AAH04126,AAH09679,CAG33405,Q6IAN0,NP_056325,EAX02596,EAX02597,AAD34088,CAB55997 Hs.386989 CGI-93|DKFZp566O084|MGC8916|SDR32C1 dehydrogenase/reductase SDR family member 7B|short chain dehydrogenase/reductase family 32C, member 1 protein-coding 1602060 DHRS7C dehydrogenase/reductase (SDR family) member 7C 19027726,12477932 201140 NM_001105571,AC027045,AI091419,BC147025,BC171909,DN831947,BC147024 NP_001099041,AAI47025,AAI47026,AAI71909,A6NNS2 Hs.61684 SDR32C2 dehydrogenase/reductase SDR family member 7C|short chain dehydrogenase/reductase family 32C, member 2 protein-coding 736293 DHRS9 dehydrogenase/reductase (SDR family) member 9 17207965,11294878,11304534,19027726,17244623,16344560,15489334,15190067,12975309,12618084,12477932,10800688 10170 NM_199204,NM_001142270,NM_001142271,AC007556,AC008177,CH471058,AF067174,AF240697,AF240698,AF295380,AF343729,AF529286,AF529287,AF529288,AK313220,AY017349,AY359046,NM_005771,BC040380,BC051797,BC058883,CA307349,DB010228,AK296625 ADQ32590,NP_005762,NP_954674,NP_001135742,NP_001135743,AAX88964,AAY24306,EAX11282,EAX11283,EAX11284,AAD32458,AAF82747,AAF82748,AAL37037,AAK37528,AAN04008,AAN04009,AAN04010,BAG36032,AAG49422,AAQ89405,AAH58883,Q4ZG83,Q53TL1,Q9BPW9,Q9Y2P9,ACT64548,ACT64549,BAH12402 Hs.179608 3ALPHA-HSD|RDH15|RDHL|RDHTBE|RETSDR8|SDR9C4 3-alpha hydroxysteroid dehydrogenase|3-alpha-HSD|NADP-dependent retinol dehydrogenase/reductase|OTTHUMP00000204923|OTTHUMP00000205057|RDH-E2|dehydrogenase/reductase SDR family member 9|retinol dehydrogenase homolog|short chain dehydrogenase/reductase family 9C, member 4|short-chain dehydrogenase/reductase retSDR8 protein-coding 1344855 DHRSX dehydrogenase/reductase (SDR family) X-linked 1580863 19027726,18029348,16341674,15489334,12975309,12477932,11731500 207063 NM_145177,AC079176,BX119919,BX649443,CH471074,CR381696,CR856018,AJ293620,AL137300,AY358849,BC009269,BC019696,BC032340,BG703185,BM794858,CR613724 NP_660160,CAI95430,CAI95431,CAI95432,EAW98693,CAI95409,CAI95410,CAC82170,CAB70685,AAQ89208,AAH19696,AAH32340,Q8N5I4,ABM82539,ABM85731 Hs.131452 CXorf11|DHRS5X|DHRS5Y|DHRSXY|DHRSY|SDR46C1 OTTHUMP00000070385|dehydrogenase/reductase (SDR family) X chromosome|dehydrogenase/reductase (SDR family) Y-linked|dehydrogenase/reductase SDR family member on chromosome X|short chain dehydrogenase/reductase family 46C, member 1 protein-coding 1317663 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 737633,1580863 12477932,10997877,8889549,16712791,20800603,20877624,16385451 737633 55526 NM_018706,AC073160,CH471072,AA009773,AA393480,AI823832,AK309810,AL359587,BC002477,BC007955,BG469693,BI333272,BQ420710,BU187564,BU855972,BU927608,CB134342,CF593518,CR749726,R72130 NP_061176,EAW86327,AAH02477,AAH07955,CAH18489,Q96HY7 Hs.104980,Hs.711138 DKFZp762M115|KIAA1630|MGC3090 dehydrogenase E1 and transketolase domain-containing protein 1|probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial protein-coding 1317633 DHX15 DEAH (Asp-Glu-Ala-His) box polypeptide 15 The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq] 1580863 12234937,15324660,17643375,7935475,15146077,9388478,15489334,14702039,12477932,12458796,9747670 1665 AC115110,CH471069,AA771922,AB001636,AF279891,AK054614,AK055898,AK056726,AK303506,BC035974,BC047577,NM_001358,BU158645,CR605943,CR617314 NP_001349,EAW92814,EAW92815,EAW92816,EAW92817,EAW92818,EAW92819,EAW92820,EAW92821,BAA23987,AAF90182,BAG64538,AAH35974,O43143 Hs.696074 DBP1|DDX15|HRH2|PRP43|PRPF43|PrPp43p ATP-dependent RNA helicase #46|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15|DEAD/H box-15|DEAH box protein 15|RNA helicase 2|putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 protein-coding 1344132 DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. [provided by RefSeq] 1304478,1580863 9547260,17081983,16713569,15489334,15302935,12477932,12421765,9628581,16344560,16702430,19851445,20453000,20423332 1304478 8449 NM_003587,AB088098,AB202095,AL662798,AL732442,AL845353,BA000025,CH471081,CR753328,CU013522,AB001601,AF119860,AK302721,AK312264,BC002789,BC008825,BC009392,CR591941,AB103604,BQ772493,BX119957,BX908728,CR759778,CR759873,CR788240,DB072495,NM_001164239 NP_003578,BAC54930,BAE78615,CAI18247,CAI18248,CAI17761,CAI17762,CAI41882,CAI41883,BAB63323,EAX03312,EAX03313,EAX03314,EAX03315,EAX03316,EAX03317,CAP58463,CAP58464,CAP58465,CAQ09564,BAA25908,AAF69614,BAG63940,BAG35195,AAH02789,AAH08825,AAH09392,O60231,Q5JP46,Q5SQH4,Q5SQH5,Q6PKC8,Q9P186,ABM86832,BAF31265,CAQ09398,NP_001157711 Hs.485060 DBP2|DDX16|PRO2014|PRP8|PRPF2|Prp2 ATP-dependent RNA helicase #3|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16|DEAD/H box 16|DEAH-box protein 16|RNA helicase|putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 protein-coding 1318664 DHX29 DEAH (Asp-Glu-Ala-His) box polypeptide 29 1580863 8619474,20877624,9110174,16169070,19109895,16964243,15489334,15302935,12477932,20018725 54505 NM_019030,AC020728,AC026704,CH471123,AF070639,AK025145,AK308332,AL079292,AL834496,AY036974,BC035988,BC056219,BX648101,BX648269,BX648688,BX649135 NP_061903,EAW54915,EAW54916,EAW54917,EAW54918,AAC25394,CAB45191,CAD39154,AAK64516,AAH56219,CAH56172,CAH56153,Q7Z478 DDX29|FLJ21492 ATP-dependent RNA helicase DHX29|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29|DEAH box protein 29|nucleic acid helicase DDXx protein-coding 1318916 DHX30 DEAH (Asp-Glu-Ala-His) box polypeptide 30 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein has 97% sequence identity with the mouse HELG protein. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 18063578,18022663,17255935,15231748,14702039,12477932,10048485,20379614 22907 NM_014966,NM_138615,AC026318,AC139667,CH471055,AB020697,AK002076,AK096791,AK291266,BC014237,BC015029,BC020126,BC028405,BC038417,BC047335,BC063510,CD368247 NP_055781,NP_619520,EAW64833,EAW64834,EAW64835,EAW64836,BAA74913,BAA92071,BAF83955,AAH14237,AAH15029,AAH20126,AAH38417,Q7L2E3,ABM85195 Hs.517948 DDX30|FLJ11214|KIAA0890|RETCOR ATP-dependent RNA helicase DHX30|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30|DEAH box protein 30|OTTHUMP00000164802|OTTHUMP00000210760|OTTHUMP00000210761|putative ATP-dependent RNA helicase DHX30|retina co-repressor protein-coding 1323353 DHX32 DEAH (Asp-Glu-Ala-His) box polypeptide 32 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq] 19161603,17352256,17174952,16959245,16414036,14702039,12477932,12163057,11313963,12527204 55760 AL360176,AY064247,CH471066,AF427340,AF427341,AK001556,AK001751,AK024869,AK315430,NM_018180,AL162051,AY064250,BC002473,BC037925,BC068471 NP_060650,CAI12094,CAI12095,CAI12096,AAL55437,EAW49216,EAW49217,AAL26550,AAL26551,BAA91754,BAA91882,BAB15029,BAG37818,CAB82394,AAL55441,AAH02473,AAH37925,AAH68471,Q7L7V1,ABM83608,ABM86828 Hs.370292 DDX32|DHLP1|FLJ10694|FLJ10889 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32|DEAD/H box 32|DEAD/H helicase-like protein 1|DEAD/H helicase-like protein-1|DEAH box protein 32|OTTHUMP00000020718|huDDX32|putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 protein-coding 1316314 DHX33 DEAH (Asp-Glu-Ala-His) box polypeptide 33 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. [provided by RefSeq] 1580863 15635413,15489334,14702039,12477932,19423540,19615732,20406964,20438785 56919 NM_020162,AC004148,CH471108,AK025625,AK026944,AK295074,AK295760,AK314580,AL359945,BC030017,BC042040,BC050409,CR936655,BQ775963,NM_001199699 NP_064547,EAW90331,EAW90332,EAW90333,EAW90334,BAB15193,BAB15596,BAG58120,BAG58588,CAB95775,AAH30017,AAH50409,CAI56793,Q9H6R0,Q9NPV4,NP_001186628 Hs.250456,Hs.593639 DDX33|DKFZp762F2011|FLJ21972 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33|DEAH box protein 33|putative ATP-dependent RNA helicase DHX33 protein-coding 1605422 DHX34 DEAH (Asp-Glu-Ala-His) box polypeptide 34 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq] 16344560,12477932,10737800,10708517,8889548,8590280,16169070,15146197 9704 BF894697,BI826597,BM543601,BQ643547,BQ708034,BU732557,BU858266,D50924,DA048179,AC008754,AC073548,CH471126,AA454494,AK123046,AK297692,AK304710,AW886612,BC035243,BE397677,BE646419,BE677798,NM_014681,CF125648,CN307402,DR762320 BAA09483,Q14147,AAI72389,NP_055496,EAW57473,EAW57474,EAW57475,EAW57476,EAW57477,BAG60050,BAG65475 Hs.151706 DDX34|HRH1|KIAA0134 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34|DEAH box protein 34|probable ATP-dependent RNA helicase DHX34|probable ATP-dependent helicase DHX34 protein-coding 1322480 DHX35 DEAH (Asp-Glu-Ala-His) box polypeptide 35 DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. [provided by RefSeq] 1580863 11991638,14702039,12522690,12477932,11780052,16344560,20379614 60625 NM_021931,AL023803,CH471077,AK025541,AK026412,AK056710,AK296506,AK296793,AK303396,AK307863,BC033453,BC059369,BC132669,BC143941,BG258573,CR617741,AW015983,DA725122,NM_001190809,NR_033905 NP_068750,CAI22034,CAI22035,CAI22036,CAI22038,EAW76005,EAW76006,EAW76007,BAB15166,BAB15476,BAG59138,BAG59370,BAG64452,AAI32670,Q5THR1,Q9H5Z1,NP_001177738,ADR83234 Hs.444520 C20orf15|DDX35|FLJ22759|KAIA0875 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35|DEAH box protein 35|DEAH-box protein 35|probable ATP-dependent RNA helicase DHX35 protein-coding 1318732 DHX36 DEAH (Asp-Glu-Ala-His) box polypeptide 36 This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18029348,20696886,17353931,18854321,18842585,18279852,16482509,16150737,15489334,15144186,14731398,12812084,12477932,12198572,10819331,20472641 170506 NM_001114397,AC018452,AC134026,CH471052,AB040921,AF217190,AJ577133,AJ577134,AK303720,AK314435,NM_020865,BC036035,CR593983 NP_065916,NP_001107869,EAW78761,EAW78762,EAW78763,BAA96012,AAG36783,CAE11802,CAE11803,BAH14031,BAG37047,Q9H2U1,ABM81936,AAH36035 Hs.446270 DDX36|G4R1|KIAA1488|MLEL1|RHAU DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36|DEAH box protein 36|G4 resolvase-1|MLE-like protein 1|OTTHUMP00000214103|OTTHUMP00000214104|RNA helicase associated with AU-rich element ARE|probable ATP-dependent RNA helicase DHX36 protein-coding 1315679 DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. 15489334,12477932,12421765,10819331,17353931 57647 NM_032656,AC093719,CH471054,AB040950,AK123968,BC002575,BC004463,BC009913,BC037964,BC071824,BQ070021,BU633279 NP_116045,EAW98467,EAW98468,EAW98469,BAA96041,AAH02575,AAH37964,AAH71824,Q6IPP7,Q8IY37 Hs.107382 DDX37|FLJ41974|KIAA1517|MGC2695|MGC4322|MGC46245 DEAD/DEAH box helicase DDX37|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 37|DEAH box protein 37|probable ATP-dependent RNA helicase DHX37 protein-coding 1321196 DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. 1580863 10421373,9769096,9342318,9039502,8889549,8889548,1825134,17353931,12226669,9524131,15489334,15009096,12477932,12417987,11991638,10493829,18715871,19615732 9785 AC004682,AC009087,CH471166,NM_014003,AA126451,AF038391,AK291634,AK309391,AK311169,BC004235,BC008340,BG719187,BM473438,BU733805,CR598207,D86977,AK293776,AK297269,AK297791,AK301074 NP_054722,AAC27431,EAW59180,EAW59181,EAW59182,EAW59183,EAW59184,EAW59185,EAW59186,EAW59187,EAW59188,EAW59189,EAW59190,AAC39729,BAF84323,AAH04235,AAH08340,BAA13213,Q92620,ABM82812,ABM85998,BAG57191,BAG59742,BAG60131,BAG62680 Hs.151218 DDX38|KIAA0224|PRP16|PRPF16 ATP-dependent RNA helicase DHX38|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38|DEAH box protein 38|PRP16 homolog of S.cerevisiae|pre-mRNA splicing factor ATP-dependent RNA helicase PRP16|pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 protein-coding 1350869 DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40 DDX40 is a member of the DExH/D box family of ATP-dependent RNA helicases. RNA helicases catalyze the unwinding of double-stranded RNA and play a role in RNA metabolism, including pre-mRNA splicing, ribosome biogenesis, and organellar gene expression.[supplied by OMIM] 15489334,14702039,12522690,12477932,9373149,8707840,8125298,19615732 79665 NM_024612,AC004167,AC091271,CH471109,AF260270,AF319521,AF461690,AK025713,AK091334,AK095681,AK123683,AK225268,AK225344,AK226048,AK299151,AL832510,BC024187,NM_001166301 NP_078888,EAW94402,EAW94403,EAW94404,EAW94405,EAW94406,AAF70326,AAK32122,AAN77932,BAB15226,BAG52339,BAG53107,BAG61200,CAI46197,AAH24187,Q8IX18,ABM81835,ABM84986,NP_001159773 Hs.29403 ARG147|DDX40|FLJ22060|FLJ34015|PAD DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)|DEAH box protein 40|probable ATP-dependent RNA helicase DHX40 protein-coding 1601893 DHX40P DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene 12477932 653645 NR_002924,AC005702,BX280208 Hs.600085 DHX40P pseudo 1321188 DHX57 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 17353931,17081983,15815621,15489334,14702039,12477932,9110174,8619474 90957 NM_198963,AC018693,CH471053,AA431324,AB209249,AF070590,AF283512,AI203420,AK057423,AK296739,BC012454,BC033636,BC039270,BC053623,BC060778,BC065278,BC131534,BC153875,BQ719095,BU183594,CR620209,AK307514 NP_945314,AAY24256,EAX00358,BAD92486,AAM73547,BAB71479,BAG59324,AAH33636,AAH53623,AAH60778,AAH65278,AAI31535,Q59G60,Q6P158,Q8N4U2 Hs.468226 DDX57|FLJ32861 DEAH box protein 57|DEAH-box RNA/DNA helicase AAM73547|OTTHUMP00000204072|putative ATP-dependent RNA helicase DHX57 protein-coding 1603964 DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58 18029348,17190814,20331378,19403670,19278996,18411269,17020950,16189514,16116171,14702039,12477932,11735219,9373149,8889548,8125298 79132 NM_024119,AC105024,CH471152,AK021416,AK097669,AK225549,AK296840,AK300900,BC014949,BM723672 NP_077024,EAW60796,EAW60797,EAW60798,EAW60799,EAW60800,BAB13818,BAG53507,BAH12441,BAG62538,AAH14949,Q96C10 Hs.55918 D11LGP2|D11lgp2e|LGP2 RIG-I-like receptor LGP2|RLR|RNA helicase LGP2|ortholog of mouse D11lgp2|probable ATP-dependent RNA helicase DHX58|probable ATP-dependent helicase LGP2|protein D11Lgp2 homolog protein-coding 1321795 DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is highly homologous to yeast Prp22. This protein facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. [provided by RefSeq] 1580863 7935475,16094384,15635413,12477932,11991638,8608946,16820410,19615732,19724143 1659 AC068675,AC087650,CH471178,AK291664,NM_004941,AK294046,BC020697,BC038223,BC044586,BC047327,CR600304,D50487,AK303319 NP_004932,EAW51676,EAW51677,EAW51678,EAW51679,EAW51680,BAF84353,BAG57398,AAH20697,AAH44586,AAH47327,BAA09078,Q05CV4,Q14562,Q86X36,Q86YB2,BAH13940 Hs.463105 DDX8|HRH1|PRP22|PRPF22 ATP-dependent RNA helicase DHX8|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)|DEAH box protein 8|DEAH-box protein 8|RNA helicase HRH1 protein-coding 1318384 DHX9 DEAH (Asp-Glu-Ala-His) box polypeptide 9 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein with RNA helicase activity. It may participate in melting of DNA:RNA hybrids, such as those that occur during transcription, and may play a role in X-linked gene expression. It contains 2 copies of a double-stranded RNA-binding domain, a DEXH core domain and an RGG box. The RNA-binding domains and RGG box influence and regulate RNA helicase activity. [provided by RefSeq] 1580863 20437153,20802156,12946349,15034300,15121898,15723802,16169070,17289661,17531811,17643375,19029303,19229320,9111062,17498979,12226669,8690889,18809582,19309309,19197335,18782589,18600529,18519039,18053790,17353931,17251188,17081983,16710414,16527808,16375861,16344560,15995249,15613478,15489334,15355351,15302935,15084609,14769796,14704337,14702039,12711669,12665568,12592385,12477932,12429849,12243751,12171929,12163469,11850402,11416126,11402034,11254741,11149922,10951562,10925702,10924507,10207077,9892698,9811865,9662397,9480750,9396813,9323138,8344961,7685763,1537828,10748171,11823437,16914450,18029348,16740692,20510246,20385589,20669935,20696886 1660 AA836637,DB223823,NR_033302,AL355999,AL662837,CH471067,AB451248,AB451372,AF086352,AK096582,AK130564,AK226102,AK308165,BC008773,BC014246,BC025245,BC032742,BC058896,BC071950,BC107881,BC137136,BC144494,DB002450,DB285127,L13848,U03643,Y10658,NM_001357 Q05CI5,Q08211,Q12803,Q32Q22,Q58F26,Q6PJK6,NP_001348,CAH71701,CAI19277,EAW91137,EAW91138,BAG70062,BAG70186,BAG53328,AAH08773,AAH14246,AAH25245,AAH58896,AAI07882,AAI37137,AAB48855,AAA03571,CAA71668 Hs.191518 DDX9|FLJ17406|LKP|NDH2|NDHII|RHA ATP-dependent RNA helicase A|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9|DEAH box protein 9|leukophysin|nuclear DNA helicase II protein-coding 1343511 DHX9P DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 9325059 1661 NG_002657,AC001226 DDX9P|DHX9P pseudo 1322043 DIABLO diablo homolog (Drosophila) This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and it moderates the caspase inhibition of IAPs. Multiple polyadenylation sites have been found for this gene. Four alternatively spliced transcript variants have been described for this gene, with two of them encoding different isoforms and the other two probably not encoding a protein. [provided by RefSeq] 19913121,20628086,16729033,20562859,20596678,16868249,16484020,16344560,16341674,16282325,16091752,15843890,15541727,15537572,15489334,15300255,15242764,15200957,15178455,14960576,14702039,14570909,14560006,14523016,14512414,12975347,12855565,12766489,12749848,12665525,12660240,12642862,12571250,12559088,12525502,12477932,12388702,12364342,12218061,12121969,12118245,11964312,11801603,11801595,11726499,11604410,11323712,11285287,11242052,11181995,11140638,11140637,10972280,9373149,8889549,8889548,8125298,17140287,15280366,12511567,12865429,15650747,20063052,20395960,16083549,15628841,10929711,10929712,10950947,11257231,19148507,18979398,18856066,18663754,18660514,18401527,18307314,18091317,18060880,18029193,17997990,17996648,17967504,17922292,17724022,17666167,17653087,17630921,17603079,17546047,17521628,17440818,17320350,17291493,17277885,17237824,17223373,17045968,16949641,20572591,16732934,17959540,18029348,19153467,19500507,19615732,19875445,20056675,20061022,20537984,18822208,15749826,20877624 56616 NM_138929,NM_019887,NR_024601,NR_024600,AC048338,CH471054,AF262240,AF298770,AK001399,AK024768,AK057778,AK222664,AK315629,AY313210,BC004417,BC011909,BC046209,BC095468,BF724951,BM746689,CD742753,CF128595,CR596276,CR598154,CR598498,CR612340,CR621745,DA915183,N66735 NP_620307,NP_063940,EAW98311,EAW98312,EAW98313,EAW98314,EAW98315,EAW98316,AAF87716,AAG22077,BAG50903,BAB14994,BAB71568,BAD96384,BAG37997,AAQ86939,AAH04417,AAH11909,AAH95468,Q502X2,Q53HB7,Q6W3F3,Q9NR28,ABM83987,ABM87312 Hs.169611 DIABLO-S|FLJ10537|FLJ25049|SMAC|SMAC3 0610041G12Rik|OTTHUMP00000211309|diablo homolog, mitochondrial|direct IAP-binding protein with low pI|mitochondrial Smac protein|second mitochondria-derived activator of caspase protein-coding 1348282 DIANPH diabetic nephropathy 23771 1321771 DIAPH1 diaphanous homolog 1 (Drosophila) This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1601058,1580863 9360932,19470376,19240061,19158278,19102128,18955552,18922799,18218625,17940061,17301291,17182868,16344560,15123714,15096506,14702039,12847276,12665801,12477932,12324464,11992112,11171383,9110174,8619474,7737110,1350680,12773565,14592989,10814512,11590143,12065429,15085137,20591975,15231748,15864301,16109481,18194650,19041431,19160018,19913427,20071339,20223827 1601058 1729 NM_001079812,NM_005219,NG_011594,AC008781,CH471062,AB209482,AF051782,AK023345,AK057994,AK094264,AK301195,AK304291,AK307822,AL050086,AY007129,AY360322,AY363395,BC007411,BC117257,BC143413,BC143414,BQ945734,BT007318,CR607996,CR621303,DA593734,DQ067452,DQ067453 NP_001073280,NP_005210,EAW61919,EAW61920,BAD92719,AAC05373,BAB14533,BAG62775,BAG65149,AAQ64023,AAQ63049,AAH07411,AAI17258,AAI43414,AAP35982,AAZ23039,AAZ23040,O60610,Q17RN4,Q6URC4,Q6UUU0,Q7KZJ7,Q96IL1 Hs.529451 DFNA1|DIA1|DRF1|FLJ25265|LFHL1|hDIA1 OTTHUMP00000195049|diaphanous-related formin 1|diaphanous-related formin-1|protein diaphanous homolog 1 protein-coding 1346222 DIAPH2 diaphanous homolog 2 (Drosophila) The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1601071,1580863 18044991,20936779,9497258,18029348,17081983,16344560,15772651,15085137,14702039,12577064,12477932,11509578,11129329,10524757,9070928,8406446,20734064 1601071 1730 NM_006729,NM_007309,NG_008433,AL031053,AL139399,AL139809,AL161624,AL391821,AL592157,AL606530,AL669876,CH471115,Z86061,AK002029,AK291272,AW276516,BC117414,BC143838,BX363708,DB062196,U69179,Y15908,Y15909 NP_006720,NP_009293,CAB39108,CAI42515,CAD13477,CAI39928,CAI40915,CAI40916,CAH71361,CAI40544,CAI40545,CAI39841,CAI39842,CAH71113,CAH71114,EAX02791,EAX02792,EAX02793,CAI42257,CAI42258,BAG51003,BAF83961,AAI17415,AAI43839,CAA75869,CAA75870,O60879,Q17R91 Hs.226483 DIA|DIA2|DRF2|FLJ11167|POF|POF2|mDia3 diaphanous-related formin-2|diaphorase-2|protein diaphanous homolog 2 protein-coding 1350370 DIAPH3 diaphanous homolog 3 (Drosophila) 1580863 17198702,17398099,17855386,18516090,18755006,19457867,11329013,563699,11509578,12477932,18044991,15489334,15231748,15057823,14767582,14702039 81624 AK316474,NM_001042517,NM_030932,AL354829,AL356502,AL359266,AL390878,AL596282,CH471124,AB244756,AB244757,AB244758,AK092024,AK298509,AK307652,AL137718,AY750055,AY818645,BC034952,BC048963,BC068504,BF979672,BG203073,BX649186,CA310418 BAH14845,NP_001035982,NP_112194,CAI39756,CAI39757,CAI14102,CAI14158,EAW52069,EAW52070,EAW52071,EAW52072,EAW52073,EAW52074,BAE96350,BAE96351,BAE96352,BAC03793,BAG60715,CAB70890,AAW73254,AAW78862,AAH34952,AAH48963,AAH68504,CAE46204,Q9NSV4 Hs.283127 DKFZp434C0931|DKFZp686A13178|DRF3|Dia2|FLJ34705|diap3|mDia2 OTTHUMP00000180577|OTTHUMP00000180578|OTTHUMP00000180579|OTTHUMP00000180580|diaphanous-related formin 3|diaphanous-related formin-3|protein diaphanous homolog 3 protein-coding 1319699 DICER1 dicer 1, ribonuclease type III This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863,4144851 20615407,20721975,16424907,19393748,19520829,19556464,19615732,19646895,19672267,19678941,19782670,19806572,19836333,19851984,19914350,20201926,20210522,20211803,20237275,20463238,20550935,12411504,15973356,17452327,19422693,19219043,19155329,19138993,19127773,19118902,19092150,19082437,19047128,19022417,19017633,18978195,18927112,18700235,18644891,18637735,18508075,18413723,18325616,18289125,18239938,18178619,18167183,18029348,18023283,17663774,17482383,17379831,17360756,17332367,17317629,17303335,17071602,16582496,16380083,16142218,16095561,15811921,15592455,15342556,15247924,15242644,14749716,14702039,14576312,12906857,12527779,12526743,12477932,12411505,12168954,12110183,10786632,10727850,10231032,10051563,9110174,8619474,20932845,20974746,20530258,17181864,20805302,20869963,20232482,20339536,20730047,20584909,20732906,20819778,20962848,21044367,21048142 4144851 23405 HM595745,NM_001195573,NG_016311,NM_177438,NM_030621,AL356017,AL390254,CH471061,AB023145,AB028449,AF007142,AJ132261,AK001041,AK001827,AK002007,AK091094,AK091513,AL122105,AL832389,AW297296,AY845867,AY929254,AY929255,AY929256,BC046934,BC068591,BC150287,BI913232,BP199059,BQ937506,HC879392,HD033101 ADK25182,NP_001182502,NP_803187,NP_085124,EAW81595,EAW81596,BAA76772,BAA78691,CAB38857,BAG51002,BAG52376,CAB59269,AAW31883,AAX18334,AAX18335,AAX18336,AAI50288,Q5D0K4,Q5D0K5,Q9UFF3,Q9UPY3,CBM42912,CBV35645 Hs.87889 DCR1|Dicer|HERNA|KIAA0928 Dicer1, Dcr-1 homolog|K12H4.8-LIKE|dicer 1, double-stranded RNA-specific endoribonuclease|endoribonuclease Dicer|helicase MOI|helicase with RNAse motif|helicase-moi protein-coding 1322490 DIDO1 death inducer-obliterator 1 Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq] 1580863 18298900,17299043,17081983,16964243,16127461,15489334,15302935,15203218,14702039,12624717,12477932,12070015,11780052,10393935,9205841,8889548,16189514,20800603,15146197,16344560,19851296,20198315,20379614,20453000 11083 NM_080797,NM_022105,NM_080796,AL035669,AL117379,CH471077,AB002331,AF085876,AK002127,AL133063,AY481571,AY481572,BC000770,BC004237,BC012757,BC014489,BC014615,BC137177,BG677268,BG755041,BG771506,BI830580,BQ045451,BX404270,CD637702,NM_033081,CK300739,CN348577,CN348578,CN370110,CN370112,CR602997,CR609981,AI291497,AW206895,DA294135,DA506324,DB460917,NM_001193369,NM_001193370 NP_149072,NP_542987,NP_071388,NP_542986,CAI95761,CAI95762,CAI95769,CAI95770,CAI95707,CAI95708,CAM28273,CAO03650,EAW75321,EAW75322,EAW75323,EAW75324,EAW75325,EAW75326,BAA20791,BAA92094,CAB61387,AAS49898,AAS49899,AAH00770,AAH04237,AAH14489,AAI37178,Q9BTC0,ABM83946,ABM87264,NP_001180298,NP_001180299 Hs.517172,Hs.726518 BYE1|C20orf158|DATF1|DIDO2|DIDO3|DIO-1|DIO1|DKFZp434P1115|FLJ11265|KIAA0333|MGC16140|dJ885L7.8 DATF-1|OTTHUMP00000031517|OTTHUMP00000031521|OTTHUMP00000031522|death associated transcription factor 1|death-associated transcription factor 1|death-inducer obliterator 1|hDido1 protein-coding 1344911 DIH1 diaphragmatic hernia 1 1732 1603655 DIMT1L DIM1 dimethyladenosine transferase 1-like (S. cerevisiae) 16341674,15489334,12477932,12429849,11124703,9584194,19454010,19615732 27292 NM_014473,AC016637,CH471137,AF091078,AF102147,AJ009761,AK292723,AK299480,BC002841,BC010874,BC017885,BM749030,CR598329 NP_055288,EAW51384,EAW51385,EAW51386,AAC72947,AAC97955,CAA08815,BAF85412,BAG61444,AAH02841,AAH10874,Q9UNQ2,ABM82408,ABM85595,ABM85767 Hs.726092 DIM1|DIMT1|HSA9761|HUSSY5 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase|18S rRNA dimethylase|OTTHUMP00000221860|S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase|dimethyladenosine transferase|probable dimethyladenosine transferase protein-coding 735269 DIO1 deiodinase, iodothyronine, type I The protein encoded by this gene is a thiol-requiring propylthiouracil-sensitive oxidoreductase. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It also degrades both hormones by inner ring deiodination (IRD). Alternative splicing results in multiple transcript variants encoding different isoforms. Some, but not all, isoforms contain a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Additional transcript variants have been described but are not supported by experimental evidence. [provided by RefSeq] 1580863 8033262,1400883,19190113,19064291,18793344,18676680,18492748,18426912,18349068,17274741,17105838,16710414,16131326,15785240,15489334,15483075,12847093,12586771,12477932,12153750,11383912,9784399,9249039,9192862,8964838,8473826,8427198,8187873,7744884,7651427,19170196,19534619,19625176,19692168,19730683,20049650,15028279 1733 NM_001039716,NM_001039715,NM_213593,AL031427,CH471059,S79349,AK290780,AW294928,AY560374,AY560375,AY560376,AY560377,AY560378,AY560379,AY560380,AY560381,NM_000792,AY560382,AY560383,BC017955,BC107170,BC107171,CD014030,FJ002243,FJ002244,NG_023306 NP_000783,NP_001034805,NP_001034804,NP_998758,EAX06720,EAX06721,EAX06722,EAX06723,EAX06724,EAX06725,EAX06726,AAB35380,BAF83469,AAT02480,AAT02481,AAT02482,AAT02483,AAT02484,AAT02485,AAT02486,AAT02487,AAT02488,AAT02489,AAH17955,AAI07171,AAI07172,P49895,ACM41656,ACM41657 Hs.251415 5DI|MGC130050|MGC130051|TXDI1 DIOI|thyroxine deiodinase type I (selenoprotein)|type 1 DI|type I iodothyronine deiodinase|type-I 5'-deiodinase|type-I 5'deiodinase protein-coding 735779 DIO2 deiodinase, iodothyronine, type II The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3 production in patients with Graves disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 68235,1626437,1626439,2313698,2313696,1580863 9837913,19427350,19293265,19190113,19178511,19018782,18514391,18492748,18349068,18334578,18285610,18198294,18073314,17991726,17504898,17452445,17408423,17389255,17381351,17244789,17224473,17105838,17077128,16928685,16889485,16728541,16728495,16356084,16144953,16140305,16131328,16127464,15797963,15785240,15727947,15291742,15286152,15240580,12933904,12865408,12847093,12198238,12153750,12089359,11897672,11872697,11716958,11716036,11165050,11089566,10614643,10343107,9110174,8770868,8755651,8619474,15965468,20930717,21054208,1400883,19651899,19684474,20176747,20178852,20200941,20373986,20379614,12775767,12699588,12586771,12477932,20566590 68235,1626437,1626439,2313698,2313696 1734 NM_013989,NM_000793,NM_001007023,AB039888,AC007372,AF188709,CH471061,AB041843,AB041844,AF007144,AF093774,AF123661,AI697311,AI701403,AI888658,AK292210,AK311603,BC063118,BC074882,BC136514,BF224328,CD701270,U53506 NP_054644,NP_000784,NP_001007024,BAB21594,AAD45494,AAF37612,EAW81320,EAW81321,EAW81322,EAW81323,EAW81324,EAW81325,BAB16838,BAB16839,AAC95470,BAF84899,AAH63118,AAH74882,AAI36515,AAC50663,Q6P525,Q92813,Q9C0K2,Q9HCP7,Q9NZL0 Hs.202354,Hs.708526 5DII|D2|SelY|TXDI2 DIOII|thyroxine deiodinase, type II|type 2 DI|type 2 iodothyronine deiodinase|type II iodothyronine deiodinase|type-II 5'-deiodinase|type-II 5'deiodinase protein-coding 68623 DIO3 deiodinase, iodothyronine, type III The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is essential for efficient enzyme activity. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq] 2303417,1580863 12586771,12477932,12419801,9787088,1519445,19548001,19819956,19966805,12746313,7593630,19190113,18492748,18356288,18176563,16131330,16131329,16037131,15489334,15240580,14962667,12943987,12847093,20566590,20724312 2303417 1735 NM_001362,AL049836,CH471061,BC017717,BX161470,CR591237,CR602618,CR607338,CR609174,CR613810,S79854 NP_001353,EAW81747,AAH17717,CAD61926,AAB35616,P55073,Q86TU3 Hs.49322 5DIII|D3|DIOIII|TXDI3 OTTHUMP00000218716|iodothyronine deiodinase, placental type|thyroxine deiodinase type III (selenoprotein)|type 3 DI|type 3 iodothyronine selenodeiodinase|type III iodothyronine deiodinase|type-III 5' deiodinase|type-III 5'-deiodinase protein-coding 1349148 DIO3OS DIO3 opposite strand (non-protein coding) The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM] 12477932,14962667 64150 NR_002770,AL049836,AF305836,AF469199,AF469200,AF469201,AF469202,AF469203,AF469204,AF469205,AF469206,AF469207,AF469208,BC037351,BC065701,BC111049,CR616805 Hs.525597,Hs.660271,Hs.726566 C14orf134|DIO3-OS|DIO3OS|NCRNA00041 miscrna 1319135 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17236128,16344560,15489334,14702039,14637006,12477932,12137943,12036298,11812785,8724849,11675124,20860622,20054002,20972440 23181 NM_015151,NM_206889,NM_206890,NM_206891,NM_001146114,NM_001146115,NM_001146116,AP000337,AP000338,CH471079,AB273729,AF432263,AF490768,AK054807,AK056738,AK091790,AK098236,AK124731,AK303351,AL137672,BC033718,BC038443,BC046176,BE876989,BF509590,BQ017399,BX410051,CK821329,DA326960,NG_015996,BC039427 NP_055966,NP_996772,NP_996773,NP_996774,NP_001139586,NP_001139587,NP_001139588,EAX09271,EAX09272,EAX09273,EAX09274,EAX09275,BAF69070,AAL28109,AAM18046,BAB71268,BAC05266,BAG64412,CAB70868,AAH33718,AAH38443,Q14689,Q8N7L2,Q96NX2,Q9NSX6 Hs.189585 C21orf106|DIP2 DIP2 homolog A|OTTHUMP00000115890|chromosome 21 open reading frame 106|disco-interacting protein 2 homolog A|disco-interacting protein 2A protein-coding 1605978 DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) 20379614,17236128,15302935,15028280,14702039,12477932,10819331,20562859 57609 NG_021196,NM_173602,AC078818,AC090021,AC090058,AC125605,CH471111,AB040896,AK091597,AK094890,AK097369,AK126758,BC007671,BC030156,BC075027,BU101773,BU102128,BU429622,BX537905 NP_775873,EAW58149,EAW58150,BAA95987,BAC03705,BAC05025,AAH07671,AAH30156,AAH75027,CAD97891,Q7Z3H2,Q96IB4,Q9P265 Hs.505516 KIAA1463|MGC104005 disco-interacting protein 2 homolog B protein-coding 1346607 DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq] 737633,1580863 19913121,20628086,17236128,15489334,14702039,12477932,12168954,12137943,10231032,19851296,20198315,20379614 737633 22982 AF332380,AL157709,AL358216,AL359957,AL603831,AL669841,NM_014974,CH471072,AB023151,AI913413,AK126063,AK298353,AK309715,AK310018,AK310613,AK311679,BC035216,BC048327,BC063313,BX537672,N27959,CR624237 NP_055789,CAI39594,CAI16215,CAI40897,CAI40900,CAI40901,CAI14620,EAW86536,BAA76778,BAG54284,BAG60597,AAH48327,AAH63313,Q5JR15,Q5JR17,Q86XV3,Q9Y2E4 Hs.432397 FLJ34444|FLJ44075|KIAA0934|RP11-486H9.2 DIP2 homolog C|disco-interacting protein 2 homolog C protein-coding 1321350 DIRAS1 DIRAS family, GTP-binding RAS-like 1 DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM] 1580863 16344560,15489334,15057824,12477932,12194967,12107278 148252 NM_145173,AC006538,AB076888,AK124445,AK124672,AL833958,AY056037,AY059641,AY180973,BC017484,BC030660,CR614848,DA754806 NP_660156,AAD13119,BAC01115,AAL23715,AAL17968,AAO22153,AAH30660,O95057,ABM82576,ABM85765,ABM85766 Hs.172753 Di-Ras1|FLJ42681|GBTS1|RIG GTP-binding protein Di-Ras1|distinct subgroup of the Ras family member 1|ras-related inhibitor of cell growth|small GTP-binding tumor suppressor 1 protein-coding 1313693 DIRAS2 DIRAS family, GTP-binding RAS-like 2 DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM] 1580863 18464913,17903297,15489334,15164053,14702039,12477932,12194967,20379614,17207965 54769 NM_017594,AL353619,CH471089,AB076889,AK122986,AK124628,AL137308,BC008065 NP_060064,CAI15748,EAW62780,BAC01116,BAG53834,AAH08065,Q96HU8,ADQ32818 Hs.165636 DKFZp761C07121|Di-Ras2 GTP-binding protein Di-Ras2|distinct subgroup of the Ras family member 2 protein-coding 1343615 DIRAS3 DIRAS family, GTP-binding RAS-like 3 This gene is a member of the ras superfamily, and is expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers. It is a maternally imprinted gene and its expression is associated with growth suppression. Thus, this gene appears to be a putative tumor suppressor gene whose function is abrogated in ovarian and breast cancers. [provided by RefSeq] 21093415,9874798,19482475,19033662,18612997,18302158,18286529,16710414,16158053,16061651,15489334,14702039,14506155,12874023,12771940,12485503,12477932,11418188,19435463,19639215,19759414 9077 NM_004675,NG_011753,AF202543,AL157407,CH471059,AK021882,AK096393,BC005362,CR541870,CR541892,U96750 NP_004666,AAG35625,CAI21991,EAX06483,BAG51055,AAH05362,CAG46668,CAG46690,AAD03164,O95661,ABM83985,ABM87308 Hs.194695 ARHI|NOEY2 GTP-binding protein Di-Ras3|OTTHUMP00000011138|distinct subgroup of the Ras family member 3|ras homolog gene family, member I|rho-related GTP-binding protein RhoI protein-coding 1353153 DIRC1 disrupted in renal carcinoma 1 11776380,20648054,15815621,15489334,12477932,11587072 116093 NM_052952,AC079613,AY039012,AY039013,CH471058,AY039011,BC125137,NG_027691 NP_443184,AAY15021,AAK83468,EAX10912,AAK83469,AAI25138,Q969H9 Hs.470892 disrupted in renal cancer protein|disrupted in renal carcinoma protein 1 protein-coding 1322124 DIRC2 disrupted in renal carcinoma 2 This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq] 1601072 16344560,15489334,15342556,14702039,12477932,12237231,11912179 1601072 84925 NG_023324,NM_032839,AC048348,AC078794,CH471052,AA625541,AI079410,AI799012,AK027690,AK075158,AK291176,BC022204,BC033738,BC039821,BP377383,DA268974 NP_116228,EAW79459,EAW79460,EAW79461,EAW79462,BAB55300,BAC11440,BAF83865,AAH33738,AAH39821,Q05BS2,Q96SL1 Hs.477346 FLJ14784|RCC4 disrupted in renal cancer protein 2|disrupted in renal carcinoma protein 2|renal cell carcinoma 4 protein-coding 1350473 DIRC3 disrupted in renal carcinoma 3 12939738,14702039,20881960 729582 NR_026597,AC009492,AC010886,AC011235,AK024261,AK090954 Hs.572788 FLJ14199 miscrna 1312206 DIS3 DIS3 mitotic control homolog (S. cerevisiae) 1580863 9562621,15231747,16344560,15635413,15489334,15057823,14702039,12429849,12419256,12168954,11935316,11812149,11719186,11110791,10231032,9110174,8619474,12477932,20531386,12788944,19615732 22894 NM_014953,NM_001128226,AL138695,AL391384,CH471093,AB001743,AB023225,AF035310,AF330044,AK001346,AK025634,AK314715,AL080158,AL832266,BC012468,BC038101,BC056143,DB091752,U79246 NP_055768,NP_001121698,CAH72708,CAH72709,CAI15670,CAI15671,EAW80517,EAW80518,EAW80519,EAW80520,EAW80521,BAF92610,BAA76852,AAL37479,BAG50895,BAG37259,CAB45749,CAH56266,AAH38101,AAH56143,Q49AG4,Q9Y2L1 Hs.726220 DKFZp667L1817|EXOSC11|FLJ10484|KIAA1008|MGC33035|RP11-342J4.3|RRP44|bA555G22.1|dis3p 2810028N01Rik|exosome complex exonuclease RRP44|exosome component 11|mitotic control protein dis3 homolog|protein DIS3 homolog|ribosomal RNA-processing protein 44 protein-coding 1606984 DIS3L DIS3 mitotic control homolog (S. cerevisiae)-like 20531386,20531389,16341674,15342556,14702039,12477932,11853319 115752 NM_133375,NM_001143688,AC055855,CH471082,AB075835,AK095407,AK295392,BC014124,BC022089,BG722405,BM833083,BP219623 NP_588616,NP_001137160,EAW77758,EAW77759,EAW77760,EAW77761,BAB85541,BAC04542,BAG58346,AAH14124,AAH22089,Q8TF46,ABM84396,ABW03567 Hs.446251 FLJ38088|KIAA1955|MGC4562 DIS3-like exonuclease 1 protein-coding 1604754 DIS3L2 DIS3 mitotic control homolog (S. cerevisiae)-like 2 18391951,16344560,14702039,12477932,11352565,16169070,19570815,20189936,20379614 129563 AC013435,AC019130,AC068134,AC093374,AC105461,AC138658,CH471063,AA781347,AF443854,AK090419,AK094293,AK295363,AL834174,BC026166,BC030113,BC036113,BG746662,BM128478,BX648325,CR590558,CR598716,DA058505,NM_152383 NP_689596,AAY24086,AAX82031,EAW70988,AAP97321,BAC03400,BAC04324,BAG58327,CAH10694,AAH26166,AAH36113,CAH10545,Q8IYB7,Q8NF60,ABW03712,ABW03373 Hs.471637 FAM6A|FLJ36974|MGC42174 DIS3-like exonuclease 2|OTTHUMP00000203808|family with sequence similarity 6, member A protein-coding 1352451 DIS3L2P DIS3 mitotic control homolog (S. cerevisiae)-like 2 pseudogene 11352565 282697 NG_009945,AC068134,AF307337 DIS3L2P|FAM6B pseudo 736704 DISC1 disrupted in schizophrenia 1 This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 20531939,20574532,20602615,20628343,20666147,19191256,15121183,19188535,19086053,19077115,19046394,18983980,18955030,18818052,18800054,18762586,18620078,18497105,18474207,18469341,18400883,18395819,18317464,18270998,18198266,18180429,18164685,18078707,18075479,17997036,17912248,17823207,17673452,17579608,17286247,17185386,17117617,17055463,17006672,16997000,16959794,16936759,16936715,16843095,16814263,16736468,16710414,16524593,16510495,16389590,16293762,16275808,16243297,16209927,16103888,16056147,16054297,16039834,15940305,15939883,15838535,15797709,15728732,15657124,15478311,15386212,15342131,15184103,20880836,20956536,12812986,15094396,17043677,19632097,19548263,19455170,19414483,19367581,19352214,19328558,19304459,19303846,19300510,19255581,19251251,14962739,14702039,14623284,14532331,12874605,12573262,12506198,12477932,11468279,11443544,10945471,10814723,9455484,17035248,18583979,19118814,19451621,19502360,19583211,19586833,19693267,19782967,19805229,19913623,19944766,20084519,20168324,20212127,20227423,20351714,20360304,20379614,20398908,20505556,20531374,20339536,20691427,20850505,21041608 27185 FJ804187,FJ804203,AL626763,AL751364,CH471098,AB007926,AF085943,AF222980,AI075754,AJ506177,AJ506178,AK023443,AK025293,AK096457,AK128283,AL049973,BC038954,BC142622,BC151225,FJ804174,FJ804175,FJ804176,FJ804177,FJ804178,FJ804179,FJ804180,FJ804181,FJ804182,FJ804183,FJ804184,FJ804185,FJ804186,AL450284,NM_001012957,NM_001012959,NM_001012958,NG_011681,NM_001164537,NM_001164538,NM_001164539,NM_001164540,NM_001164541,NM_001164542,NM_001164544,NM_001164545,NM_001164546,NM_001164547,NM_001164548,NM_001164549,NM_001164550,NM_001164551,NM_001164552,NM_001164553,NM_001164554,NM_001164555,NM_001164556,AF222983,AF222987,AL136171,AL161743,AL359543,AL445200,NM_018662,FJ804188,FJ804189,FJ804190,FJ804191,FJ804192,FJ804193,FJ804194,FJ804195,FJ804196,FJ804197,FJ804198,FJ804199,FJ804200,FJ804201,FJ804202,FJ804204,FJ804205,FJ804206,FJ804207,FJ804208,FJ804209,FJ804210,FJ804211,FJ804212,FJ804213,FJ804214,FJ804215,FJ804216 CAI15677,CAI15678,CAI15679,CAH70954,CAH70955,CAH70956,CAH70957,EAW69966,EAW69967,BAA32302,AAF73889,CAD44631,CAD44628,AAI51226,ACR40040,ACR40041,ACR40042,ACR40043,ACR40044,ACR40045,ACR40046,ACR40047,ACR40048,ACR40049,ACR40050,ACR40051,ACR40052,NP_061132,NP_001012975,NP_001012977,NP_001012976,NP_001158009,NP_001158010,NP_001158011,NP_001158012,NP_001158013,NP_001158014,NP_001158016,NP_001158017,NP_001158018,NP_001158019,NP_001158020,NP_001158021,NP_001158022,NP_001158023,NP_001158024,NP_001158025,NP_001158026,NP_001158027,NP_001158028,AAF73874,AAF73877,CAI21886,CAI21887,CAI21888,CAI21889,CAI22541,CAI22542,CAI22543,CAI22544,CAI22545,CAI17204,CAI17205,CAI17206,CAI17207,CAI23013,CAI23014,ACR40053,ACR40054,ACR40055,ACR40056,ACR40057,ACR40058,ACR40059,ACR40060,ACR40061,ACR40062,ACR40063,ACR40064,ACR40065,ACR40066,ACR40067,ACR40068,ACR40069,ACR40070,ACR40071,ACR40072,ACR40073,ACR40074,ACR40075,ACR40076,ACR40077,ACR40078,ACR40079,ACR40080,ACR40081,ACR40082,Q9NRI5,Q5T406 Hs.13318 C1orf136|FLJ13381|FLJ21640|FLJ25311|FLJ41105|KIAA0457|SCZD9 Putative uncharacterized protein C1orf136|disrupted in schizophrenia 1 protein protein-coding 1347711 DISC2 disrupted in schizophrenia 2 (non-protein coding) DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM] 18164685,17912248,15478311,10814723,20339536 27184 NR_002227,AF222981,AL136171 DISC1OS|NCRNA00015 miscrna 1317002 DISP1 dispatched homolog 1 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq] 737633 19184110,14702039,12477932,12372301,10619433,20379614,16258256,20799323 737633 84976 NM_032890,NG_009243,AC093152,CH471100,AK023679,AK026114,AK056569,AK098669,AK125728,AL133092,BC007734,BC011542,BC107762 NP_116279,EAW93264,BAB14637,BAB15365,BAG51751,BAC05373,CAB61406,AAH07734,AAH11542,AAI07763,Q3B776,Q96F81 Hs.528817 DISPA|DKFZp434I0428|FLJ43740|MGC104180|MGC13130|MGC16796 dispatched A|protein dispatched homolog 1 protein-coding 1319977 DISP2 dispatched homolog 2 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched. [provided by RefSeq] 14702039,12477932,12372301,11214970,10619433,16258256 85455 NM_033510,AC013356,CH471125,AB051529,AK096153,AL359580,BC151833,CR624519,CR627480 NP_277045,EAW92407,EAW92408,BAB21833,AAI51834,CAH10680,A7MBM2,AAI69315 Hs.355645,Hs.592339 DISPB|DKFZp547N223|HsT16908|KIAA1742 dispatched B|protein dispatched homolog 2 protein-coding 1320498 DIXDC1 DIX domain containing 1 1580863 20624590,19375513,18629627,16814745,16344560,15262978,14702039,12934113,12792787,12477932,11214970,9110174,8619474,19572978,20085589 85458 NM_001037954,NM_033425,AP000907,CH471065,AB051522,AB074187,AF070621,AK055469,AK055899,AK074277,AK289807,AK294954,AU253693,BC033034,BC035509,BC041626,BC048294,BC064479,BC128600,BX370159,DA096120,DQ642016 NP_001033043,NP_219493,EAW67171,EAW67172,EAW67173,BAB21826,BAG51522,BAB71039,BAF82496,BAG58029,AAH33034,AAH35509,AAH41626,AAH48294,AAH64479,AAI28601,ABG25914,Q155Q3,Q86SR7 Hs.655626 CCD1|KIAA1735 DIX domain-containing protein 1|coiled-coil protein DIX1|coiled-coil-DIX1|dixin protein-coding 1349510 DKC1 dyskeratosis congenita 1, dyskerin This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 734888,1580863 10591218,16601202,16618814,12135483,9590285,10556300,18936525,18802941,18627054,18607840,18057229,18005359,17822678,17625368,17417794,17395830,17081983,17015423,16964243,16690864,16565220,16381901,16344560,16169070,16083285,15814878,15635413,15613268,15489336,15489334,15302935,15044956,12736709,12477932,12437656,12429849,12137939,11790298,11379875,11256614,11076863,11074001,10903840,10700698,10583221,10438713,10364516,10217077,9888995,9373149,9042917,8889548,8125298,7607282,20332657,15060173,15189140,18029348,18358808,19615732,19734544,19755982,19835419,19879169,20501855,20008900 734888 1736 NM_001363,NM_001142463,NG_009780,AC087225,AC109993,AF067023,AJ010395,AJ010396,AJ224481,CH471172,AF067008,AK225077,AK307672,BC009928,BC010015,BI858251,BU730947,CD367400,CR594173,CR594895,DA429806,DB517187,U59151 NP_001354,NP_001135935,AAD20232,CAB51168,CAA11970,EAW72661,EAW72662,EAW72663,AAD11815,AAH09928,AAH10015,AAB94299,O60832,CAL37509,CAL37701,ABM83663,ABM86910 Hs.4747 CBF5|DKC|FLJ97620|NAP57|NOLA4|XAP101 CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|cbf5p homolog|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1 protein-coding 1604031 DKFZP564O0823 prostatic androgen-repressed message-1 18027867,16381901,15489336,15489334,15466293,15340161,14702039,12975309,12477932,12107410,11076863,8889548,11230166,10499539,12772192,20379614 25849 NM_015393,AC098825,AC110760,CH471057,AI948471,AK022311,AK025205,AK026200,AL080121,AL602405,AY358777,BC013294,BG401757,BM512163,BM692302,CA388793,CA390477,CA843297,CR619393,AI767320 NP_056208,EAX05714,EAX05715,EAX05716,EAX05717,BAG51071,CAB45720,AAQ89137,AAH13294,Q6UWI2,CAL38052,CAL38466 Hs.105460,Hs.623905 Cipar1|DKFZP564O0823|PARM-1|WSC4 Castration-induced prostatic apoptosis-related protein 1|OTTHUMP00000219073|Prostatic androgen-repressed message 1|WSC4, cell wall integrity and stress response component 4 homolog|castration-induced prostatic apoptosis-related protein 1|prostate androgen-regulated mucin-like protein 1|prostatic androgen-regulated mucin-like protein 1|prostatic androgen-repressed message 1|prostatic androgen-repressed message-1 protein-coding 1602155 DKFZP686I15217 hypothetical LOC401232 16344560,14702039,12477932 401232 NR_026855,NR_026856,AL133351,AK055096,AK123663,BC108683,BQ025114,BX640709,DA076107,BC137372 BAB70854,CAE45828,Q6N042,Q96NM8 Hs.720158 miscrna 2291761 DKFZp566H0824 hypothetical LOC54744 12477932 54744 XR_041382,XR_041383,XR_041384,AL050271,AL356072,CH471130,BC029383,BC104430,BC104431,BC113958 EAW71602 Hs.607837,Hs.662784 miscrna 1606381 DKFZp686K16132 similar to BMP2 inducible kinase 12477932 388957 Q6ZSR9 BC073953,BC132937,BC132939,BX640963,NM_001012987,AC114772,AK127187 AAI32938,AAI32940,Q6ZSR9,NP_001013005,BAC86877 Hs.661949 protein-coding 1601692 DKFZp686O24166 hypothetical protein DKFZp686O24166 12477932,19528259 374383 NR_026750,AC124798,BC136797,BC136800,BX537685,CR749521,NM_001202439 CAD97811,CAH18335,Q68D85,NP_001189368 Hs.720645 B7H6|DKFZp686I21167 putative Ig-like domain-containing protein DKFZp686O24166/DKFZp686I21167 protein-coding 1606994 DKFZp761E198 DKFZp761E198 protein 16189514,15146197,12477932 91056 AP001266,CH471076,AF193040,AL834269,BC004895,BC017264,BC109109,BC109110,BC126905,BC128056,BM927404,CN290077,NM_138368 Q8N3J7,Q2VPB7,NP_612377,EAW74437,EAW74438,AAG22468,CAD38944,AAH04895,AAI09110,AAI09111,AAI26906,AAI28057,Q0D2Q2 Hs.591957 PP1030 hypothetical protein LOC91056 protein-coding 1316435 DKK1 dickkopf homolog 1 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. [provided by RefSeq] 2293188,2301921,1580863 10383463,18461655,16263759,17353931,19060904,19453261,19424619,19396460,19389391,19358268,19303159,19273195,19252761,19247449,19093005,19067746,19040566,19016584,18978943,18843784,18653765,18606139,18571836,18561248,18546262,18521528,18505732,18502762,18331598,18305214,18297060,18294945,18163421,18157634,17987039,17984176,17876334,17702698,17700537,17657240,17643814,17485441,17449905,17373700,17329407,17255354,17245340,17237793,17159916,17068150,17026960,16919965,16863544,16763196,16646053,16568085,16491118,16293576,16189514,15923613,15694380,15592505,15592430,15542433,15489334,15451431,15378020,15340161,15231748,15229249,15117970,14695408,12975309,12740383,12477932,12167704,12050670,11840333,11516963,11448771,11357136,10965128,10570958,18339843,20653953,18044981,20033851,20628624,20634891,20797317,19943155,20618428,19407319,19477926,19540374,19657367,19675559,19711349,19744316,19776352,19787627,19820386,19898734,19926868,19936252,19955106,19995224,20004015,20019092,20038269,20039407,20062063,20093360,20101398,20139903,20153141,19746449,20613589,20929859,21076409,18166153,20543981,11742004,17804805,19832854,19895917,20819596,20847303,20920327 2293188,2301921 22943 NM_012242,AB020315,AC009986,AF261157,AF261158,CH471083,AF127563,AF177394,AK314902,AY359005,BC001539,BU752259,BX952450,CR591322,CR591735,CR594190,CR594616,CR595444,CR600818,CR601383,CR603030,CR603553,CR604811,CR605923,CR610857,CR625465,CS403559,CS537949,FB300279 NP_036374,BAA34651,AAG15544,EAW54144,AAD21087,AAF02674,BAG37416,AAQ89364,AAH01539,O94907,ABM83148,ABM86347,CAL40393,CAM84952,CAR82120 Hs.40499 DKK-1|SK dickkopf related protein-1|dickkopf-1 like|dickkopf-related protein 1|hDkk-1 protein-coding 1344026 DKK2 dickkopf homolog 2 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq] 2301921,1580863 10570958,19247449,18524778,18461655,16568085,15489334,12975309,12527209,12477932,12167704,11742004,11357136,11137016,19453261,19562778,19659606,19755393,20004015,20332099,20379614 2301921 27123 NM_014421,AB035181,AC003099,AC106863,AP001819,CH471057,AB033208,AB033941,AF177395,AK309466,AK312695,AY358414,BC075077,BC075078,BC126328,BC126330 NP_055236,BAA87056,EAX06208,EAX06209,BAA85465,BAB20420,AAF02675,BAG35574,AAQ88780,AAH75077,AAH75078,AAI26329,AAI26331,Q9H3R7,Q9UBU2,ADR82889 Hs.211869 DKK-2 OTTHUMP00000219554|dickkopf 2|dickkopf related protein-2|dickkopf-2|dickkopf-related protein 2|hDkk-2 protein-coding 1353433 DKK3 dickkopf homolog 3 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 20514419,20616171,9373149,9070656,10570958,19562778,19496188,19493271,19457090,19453261,19437037,19279003,19192722,19051296,19003969,18922905,18826564,18654608,18461655,18443132,18247400,18059033,18048388,18033687,17347849,16981135,16751809,16609023,16568085,15998302,15516983,15489334,15340161,15226763,15087387,14767340,14702039,12975309,12527209,12477932,11814687,10652205,8619474,8125298,19859801,12844346,16712791,9110174,16713569,19570204,20050020,20379614,20666943,20627041 27122 AK098756,AK225156,AK289897,AK295441,AK295539,AL535720,AY358378,AY587550,BC007660,BQ690088,BQ690888,CB156451,CR607734,H18461,U32331,NM_015881,NM_001018057,AB035182,AB057804,AC124276,CH471064,AB033421,AB034203,AB057591,AF052161,AF177396,AF400439,AK090952,AK092979,NM_013253 BAG52632,BAF82586,BAG58381,BAG58448,AAQ88744,AAS86757,AAH07660,AAC35996,Q6PQ81,Q9UBP4,ABM83832,ABM87156,NP_037385,NP_056965,NP_001018067,BAA87044,BAB84361,EAW68533,EAW68534,EAW68535,EAW68536,EAW68537,EAW68538,EAW68539,BAA85488,BAA90548,BAB84360,AAF02676,AAK92488,BAC03555 Hs.292156 REIC|RIG RIG-like 5-6|RIG-like 7-1|dickkopf 3|dickkopf-3|dickkopf-related protein 3|dkk-3|hDkk-3|regulated in glioma protein-coding 1318528 DKK4 dickkopf homolog 4 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq] 2301921,1580863 10570958,19059704,18461655,18408752,17553464,15489334,15340161,12527209,12477932,11701963,19453261,19562778,19659606,19773279 2301921 27121 NM_014420,AB018005,AC107885,CH471080,AB017788,AF177397,AK301609,BC107046,BC107047,BX105775,FB300276 NP_055235,BAA33475,EAW63220,BAA33438,AAF02677,BAG63095,AAI07047,AAI07048,Q9UBT3,CAR82119 Hs.159311 DKK-4|MGC129562|MGC129563 dickkopf-4|dickkopf-related protein 4|hDkk-4 protein-coding 1350645 DKKL1 dickkopf-like 1 (soggy) The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has high similarity to the N-terminus of the dickkopf-3 protein and moderate similarity to that protein's C-terminus though the C-terminal cysteine residues are not conserved. 1580863 10570958,17081983,15489334,12975309,12477932,17474147,19176879,17207965 27120 NM_014419,AB047818,AC010524,CH471177,AI879324,BI826695,BI826744,NM_001197301,NM_001197302,AF177398,AY358922,BC030581,FB300285 NP_055234,BAB12400,ADQ31988,NP_001184230,NP_001184231,EAW52475,AAF02678,AAQ89281,AAH30581,Q9UK85,CAR82122 Hs.515855 CT34|SGY|SGY-1|SGY1 cancer/testis antigen 34|dickkopf-like protein 1|protein soggy-1|soggy|soggy-1 protein-coding 1346561 DKKL2 dickkopf-like 2 128848 NG_005524,AL121723 DKKL2|dJ854E16.1 pseudo 735273 DLAT dihydrolipoamide S-acetyltransferase The DLAT gene encodes dihydrolipoamide acetyltransferase (EC 2.3.1.12), the E2 subunit of the mammalian pyruvate dehydrogenase complex (PDC; EC 1.2.4.1) of the inner mitochondrial membrane. Patients with primary biliary cirrhosis (PBC; MIM 109720) show autoantibodies to DLAT.[supplied by OMIM] 2313667,2307427,1580863 20800603,20877624,3191998,19240061,19185000,18206651,17068145,16049940,15120760,14702039,14638692,12816949,12477932,12395322,11978179,9649469,9373149,8125298,8102256,3174635,3036145,2317220,12676647,15861126,20180236,20361979,20452482,7273846,20673868 2313667,2307427 1737 AP000907,NM_001931,CH471065,AF317200,AK057299,AK223596,AK296274,AK297103,AK299562,AK303930,AL832703,BC039084,CR613534,CR617020,DB551427,X13822,Y00978,AW188637,NG_013342,EF444972 NP_001922,EAW67174,EAW67175,AAG31658,BAG51900,BAD97316,BAG58983,BAG59614,BAG61505,BAG64858,AAH39084,CAA32052,CAA68787,P10515,Q01991,Q16791,Q86YI5,Q9HAN0,ABM83373,ABM86584,ACA05975 Hs.335551 DLTA|PDC-E2|PDCE2 70 kDa mitochondrial autoantigen of primary biliary cirrhosis|E2 component of pyruvate dehydrogenase complex|M2 antigen complex 70 kDa subunit|OTTHUMP00000165201|PBC|dihydrolipoamide acetyltransferase|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial|pyruvate dehydrogenase complex component E2 protein-coding 68616 DLC1 deleted in liver cancer 1 This gene is deleted in the primary tumor of hepatocellular carcinoma. It maps to 8p22-p21.3, a region frequently deleted in solid tumors. It is suggested that this gene is a candidate tumor suppressor gene for human liver cancer, as well as for prostate, lung, colorectal, and breast cancers. Alternative splicing at this locus results in several transcript variants encoding different isoforms. [provided by RefSeq] 1300391,1580863 17888903,17292327,12545165,19440389,19380190,19240061,19221866,19170769,19158340,19151751,19116449,19066281,18981889,18974116,18923442,18829524,18786931,18648664,18627284,18288400,17979893,17965626,16862168,16774933,16680376,16533763,16344560,15342556,15201975,14702039,14661059,14647417,14633684,12873722,12813468,12792785,12645648,12477932,11214970,10844022,10702663,10649492,9605766,9373149,8125298,17932950,17190795,16951145,20600027,20634475,20069572,19732724,19913121,20628086,19895840,16338927,19482022,19667410,19710422,19766077,19795399,19826001,19874489,19911011,20083228,20198346,20379614 1300391 10395 NM_182643,NM_006094,NM_024767,NM_001164271,AC015641,AC019270,AC022844,AC106845,AF408768,CH471080,AB051510,AF026219,AF035119,AK023128,AK024773,AK025544,AK025733,AK225098,AK289734,AK291682,AK299049,AL117604,BC049842,BC054511,BC095415,BP284911,CB961755,DA549448,DQ092382,DQ092383,DQ092384,NG_015998 NP_872584,NP_006085,NP_079043,NP_001157743,AAK97501,EAW63851,EAW63852,EAW63853,EAW63854,EAW63855,BAB21814,AAB81637,AAB87700,BAB14996,BAF82423,BAF84371,BAG61122,AAH49842,AAH54511,AAZ32940,AAZ32941,AAZ32942,Q45XF9,Q86UC6,Q96QB1,ACE87481,ACE86794 Hs.134296,Hs.720057 ARHGAP7|FLJ21120|HP|STARD12|p122-RhoGAP OTTHUMP00000218771|OTTHUMP00000218772|Rho-GTPase-activating protein 7|START domain-containing protein 12|StAR-related lipid transfer (START) domain containing 12|deleted in liver cancer 1 protein|deleted in liver cancer 1 variant 2|rho GTPase-activating protein 7|rho-type GTPase-activating protein 7 2301749,2301750,2301751,2301752,2301753,2301754 PRSTS424_H,PRSTS421_H,PRSTS420_H,PRSTS425_H,PRSTS422_H,PRSTS423_H protein-coding 1348290 DLD dihydrolipoamide dehydrogenase This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq] 2306878,2307427,1580863 20228799,8506365,2188967,3278312,19405953,17960497,17404228,17171578,16584639,16442803,16263718,15946682,15826505,15712224,15389771,14638692,12690205,12477932,12297006,11935326,9934985,9727038,9373149,9040023,8619544,8406489,8125298,6897145,3693355,2055113,1993704,1332063,15576032,17207965,20877624,12676647,16396496,19122664,7273846 2306878,2307427 1738 NM_000108,NG_008045,AC005046,CH236947,CH471070,L13761,M99384,AB209703,AK225289,AK225301,AK294146,AK295080,AK297508,AK300077,AK310220,AK312346,BC018648,BC018696,BI562331,CR609582,CR613488,CR625204,J03490,J03620 NP_000099,EAL24389,EAW83421,EAW83422,AAB01381,AAA35759,BAD92940,BAG57472,BAG58122,BAG59921,BAG61881,BAG35267,AAH18648,AAH18696,AAA59527,AAA35764,P09622,ADQ32070 Hs.131711 DLDH|E3|GCSL|LAD|PHE3 E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex|OTTHUMP00000206746|OTTHUMP00000206749|diaphorase|dihydrolipoyl dehydrogenase, mitochondrial|glycine cleavage system L protein|glycine cleavage system protein L|lipoamide dehydrogenase|lipoamide reductase|lipoyl dehydrogenase protein-coding 1604836 DLEC1 deleted in lung and esophageal cancer 1 This gene contains 37 exons, spans approximately 59-kb, and is located in the 3p22-p21.3 chromosomal segment that is commonly deleted in various carcinomas. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins. Aberrant transcription of this gene may be involved in carcinogenesis of the lung, esophagus, and kidney. [provided by RefSeq] 16756719,8889548,20530412,10213508,19339270,19156137,18594535,18191269,17099870,20630829,12477932,18029348,20379614,20639048 9940 NM_007335,NM_007337,AB026898,AC144536,AP006309,CH471055,AB020522,AB425198,AL137282,AY789464,BC129824,BC129825,BC171799,BU680752,AL137706,NG_023237,FB571431 NP_031361,NP_031363,BAA77624,EAW64508,EAW64509,EAW64510,EAW64511,EAW64512,BAA77247,BAG11659,CAB70676,AAX18635,AAI29825,AAI29826,AAI71799,Q32W76,Q9Y238,CAB70884,AAI72408,CAR95133 Hs.714499 DLC1|F56 DLC-1|deleted in lung and esophageal cancer protein 1 protein-coding 1348392 DLEU1 deleted in lymphocytic leukemia 1 (non-protein coding) 1580863 19347735,19260139,14702039,12477932,11406609,11161783,9395242,16169070 10301 NR_002605,AL138696,AL157367,AL158195,AF490255,AJ412023,AJ412024,AJ412046,AJ412051,AJ412061,AJ412062,AK095311,BC020692,CR450325,CR600970,CR605740,Y15227 Hs.591229,Hs.712880 BCMS|DLB1|DLEU2|LEU1|LEU2|MGC22430|NCRNA00021|XTP6 miscrna 1350283 DLEU2 deleted in lymphocytic leukemia 2 (non-protein coding) 1580863 19347735,16499869,15188451,14636997,12477932,11559527,11264177,11161783,11072235,9395242,19591824,20451256 8847 NR_002612,AL137060,AL391993,AF075100,AF264787,AF380424,BC033120,BC038090,BC055417,BC070292,CR625878,Y15228,AY455757 Hs.547964 1B4|BCMSUN|DLB2|LEU2|MGC88287|NCRNA00022|RFP2OS|TRIM13OS miscrna 1353599 DLEU2L deleted in lymphocytic leukemia 2-like 11072235 79469 NR_002771,AL109925,AF254117 Hs.659291 BCMSUNL pseudo 1605843 DLEU7 deleted in lymphocytic leukemia, 7 19266077,18391952,18391951,15489334,14706829,14702039,12477932,20546612,19343178,20400458 220107 NM_198989,AC007304,AL137880,AY357590,AK126830,AY357595,BC104892,BC112009 NP_945340,AAR11481,BAC86712,AAR11480,AAI04893,AAI12010,Q6UYE1 Hs.710878 FLJ44882|MGC138214 OTTHUMP00000218764|leukemia-associated protein 7 protein-coding 731903 DLG1 discs, large homolog 1 (Drosophila) 2306812,2306813,2306834,1580863 8825652,7937897,10646847,15302935,10779557,11274188,9341123,14699157,10656683,12766944,8922391,19307009,19213956,19086053,19066288,19017653,18930083,18760273,12763866,12857860,16316992,16482544,16825666,18311135,18793635,19118189,19586902,19615732,20201926,20356847,20379614,20398908,20643107,18725271,11140673,18665322,18461433,18245566,17980554,17713926,17696365,17574238,17332497,17172448,17069616,16637659,16619250,16473877,16466689,16228013,15699074,15673434,15485825,15286176,15221964,15024025,15021905,14960569,12970345,12933808,12902344,12860415,12807908,12713445,12668732,12507520,12477932,12419826,12351654,12189141,12175853,12097473,12081647,12070168,12067714,12050163,11726633,11723125,11602598,11572861,11567040,11440998,11279111,11181181,11134026,11060025,10993877,10939335,10859302,10619846,10595517,10336672,9786987,9756850,9677374,9512503,9286858,9148889,9115257,8601796,7477295,5024025,12151521,12511555,9024696,11997254,8938729,9808460,15729360,9192623,20551903,20691406,20605917,20702775,21041448 2306812,2306813,2306834 1739 AK310893,AK311129,AL831922,BC015560,BC028486,BC042118,BC140841,BC144651,EF553524,U13896,U13897,AB209536,NM_001098424,NM_004087,AC068302,AC092937,AL121981,CH471191,AK293967,AK294772,AK294855,AK304280,AK310596 CAD38582,AAH15560,AAI40842,AAI44652,ABQ66269,AAA50598,AAA50599,Q12959,Q59FC4,Q6PJH1,Q8N3T5,BAD92773,NP_001091894,NP_004078,EAW53610,EAW53611,EAW53612,EAW53613,EAW53614,BAG57339,BAG57902,BAG57959,BAG65140 Hs.292549 DKFZp761P0818|DKFZp781B0426|DLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlg OTTHUMP00000165199|OTTHUMP00000165212|OTTHUMP00000165213|OTTHUMP00000208071|OTTHUMP00000208072|OTTHUMP00000208076|discs large homolog 1|disks large homolog 1|presynaptic protein SAP97|synapse-associated protein 97 protein-coding 731938 DLG2 discs, large homolog 2 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq] 728660,1580863 8755482,15304517,16192269,19086053,18464913,17506987,17052657,16640776,16344560,14702039,12713445,12477932,12445884,12421351,12351654,12070168,11997254,11771761,11572861,11274188,11095503,10725395,10648730,10197530,9806853,10234023,12067714,12890763,16192276,16637659,17903296,19118189,19570815,19736351,19807924,19931931,20054121,20379614,20398908,8922396,9786987,9753324,9677374,9581762,9278515,9182804,8889548,8625413,7477295,11134026,10844022,15024025,10862698,11122378 728660 1740 NM_001142699,NM_001364,NM_001142700,NM_001142702,AC023118,AP000639,AP000642,AP000773,AP000852,AP000857,AP001791,AP001825,AP001984,AP002370,AP002751,AP002797,AP002803,AP002878,AP003026,AP003035,AP003093,AP003095,AP003305,CH471076,AB209252,AK094585,AK125151,AK125152,AK126776,AK127150,AK294375,AK295094,AK295624,AK299778,AK299797,BC104969,BC110844,BC143964,BM678399,BX537627,BX648386,CR749820,CR933674,DA778233,DC303204,U32376,AP000446,NG_021375 NP_001136171,NP_001355,NP_001136172,NP_001136174,EAW75093,EAW75094,EAW75095,BAD92489,BAC86064,BAC86065,BAC86685,BAC86854,BAH11750,BAH11970,BAH12131,BAH13126,BAH13132,CAH18680,CAI45970,AAB04949,Q15700,Q5H9Q4,Q6ZSU2,Q6ZV01,AAI56217,AAI72464,Q6ZV02 Hs.367656 DKFZp781D1854|DKFZp781E0954|FLJ37266|MGC131811|PSD-93|PSD93|chapsyn-110 OTTHUMP00000165971|OTTHUMP00000165978|channel-associated protein of synapse-110|channel-associated protein of synapses, 110kDa|discs, large (drosophila) homolog 2 (chapsyn-110)|discs, large homolog 2, chapsyn-110|discs, large homolog 2, chapsyn-110 (Drosophila)|disks large homolog 2|postsynaptic density protein PSD-93 protein-coding 2312699 DLG2AS DLG2 antisense RNA (non-protein coding) 13130513 100302690 AF525782 Hs.684095 DLG2-AS|DLG2AS|PSZA11q14|SZ-1 miscrna 68628 DLG3 discs, large homolog 3 (Drosophila) 727734,1300392,1580863 11274188,17353931,9188857,19167192,19086053,18029348,16637659,16482544,16192271,15185169,15146197,15024025,12738960,12713445,12576483,12477932,12351654,12175853,12070168,11937501,11572861,11134026,10862698,10725395,10595517,10574462,10542258,10026200,9808460,9753324,9598320,9581761,9278515,9115257,8780649,8702950,11997254,10373412,19795139,10958799,19118189,19342380,8889548,19913121,20628086 727734,1300392 1741 CH471132,AB033058,AB209328,AK303377,AK304020,AK315041,AK316518,BC093864,BC093866,CN357435,U49089,NM_021120,NM_020730,AL139109,AL139398,CK300381,NG_015849,NM_001166278 CAI41022,CAI41023,EAX05333,EAX05334,EAX05335,EAX05336,EAX05337,EAX05338,BAA86546,BAD92565,BAG64433,BAG64935,BAH14889,AAH93864,AAH93866,AAB61453,Q59FY1,Q5JUW6,Q92796,NP_066943,NP_065781,CAI41021,NP_001159750 Hs.726128 KIAA1232|MRX|MRX90|NE-Dlg|NEDLG|SAP-102|SAP102|XLMR discs, large homolog 3 (drosophila)|discs, large homolog 3 (neuroendocrine-dlg, Drosophila)|disks large homolog 3|neuroendocrine-DLG|synapse-associated protein 102 protein-coding 68630 DLG4 discs, large homolog 4 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2306834,1300301,1580863 10373510,10958799,12815021,14622581,15978582,16316992,16767099,16828986,16990791,16990796,17474147,18311135,19118189,19483657,19726651,19774677,20201926,8615909,8665664,9481670,20921115,12675619,15603740,15458844,15317815,15030493,15024025,14760703,14732708,12950712,12713445,12682061,12609736,12597860,12586822,12576483,12531901,12477932,12435606,12419528,12359873,12097473,12068077,12067714,12006486,11937501,11925566,11805122,11744724,11723117,11714708,11572861,11506858,11502259,11483650,11440998,11368788,11319238,11279111,11279080,11276111,11274188,11222640,11152698,11134026,11029657,10995758,10939335,10859302,10844022,10839362,10827173,10725395,10627592,10595517,10527873,10521598,10488080,10433268,10341223,10336672,10207009,10026200,9892651,9870942,9808460,9786987,9756850,9581762,9581761,9502803,9482110,9459447,9326658,9286858,9278515,9182804,9148889,9115257,9024696,9009191,8938729,8755482,8625413,8601796,7569905,12738960,11997254,10648730,14960569,12860415,12390249,11140673,11060025,11679592,16990550,15673434,7477295,9853749,9286702,10364559,12151521,19274064,19017653,18570704,18424056,18308477,17916412,17854350,17672918,17506933,17474715,17164261,17093888,16637659,16530958,16473877,16332682,15494726,9430700,19913121,20628086 2306834,1300301 1742 NM_001128827,NG_008391,AC120057,AF156495,CH471108,AA954439,AF028825,AK293835,AK296357,AK297346,AK299801,NM_001365,AK307804,AK308533,AK316096,BC030203,BC040533,BC136553,BC144237,U68138,U83192 NP_001356,NP_001122299,AAD56173,EAW90251,EAW90252,EAW90253,EAW90254,EAW90255,AAB84250,BAH11607,BAH12328,BAH12558,BAH13133,BAH14467,AAH40533,AAI36554,AAB07736,AAC52113,O14909,P78352,Q3ZCU5 Hs.463928 FLJ97752|FLJ98574|PSD95|SAP-90|SAP90 OTTHUMP00000166066|OTTHUMP00000166067|Tax interaction protein 15|discs large homolog 4|disks large homolog 4|post-synaptic density protein 95|postsynaptic density protein 95|synapse-associated protein 90 protein-coding 1318707 DLG5 discs, large homolog 5 (Drosophila) This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq] 1580863 12353226,9738934,19422935,18824555,18804983,18715515,18559397,18466472,18433468,18397186,18338763,18335190,17693570,17544013,17476680,17455201,17451203,17307543,17156146,17100974,17081983,16944184,16773680,16670524,16670523,16534418,16494592,16493449,16450402,16446977,16437728,16391570,16344053,15955786,15952887,15930978,15843420,15841097,15665285,15489334,15164054,15107852,14702039,12657639,12477932,11876824,10903836,9628581,16169070,16192281,16385451,19423540,20037206,20379614,20406964,20438785,20796250,20886065 9231 NM_004747,AL391421,AL450306,CH471083,AB011155,AB091676,AK055172,AK055265,AK122931,AK314771,BC002915,BC013378,BC015053,AF352033,BC030250,BC051757,BC073996,BC086867,BC117695,BC146794,BX649131,U61843,NG_011484,HI179136 NP_004738,AAL83937,CAI12103,CAI12104,CAI17324,EAW54609,EAW54610,EAW54611,EAW54612,BAA25509,BAC65420,BAG37308,AAH73996,AAI17696,AAI46795,AAC61295,Q8TDM6,CBX53876 Hs.652690 KIAA0583|LP-DLG|P-DLG5|PDLG OTTHUMP00000019918|discs large protein LP-DLG|discs large protein P-dlg|disks large homolog 5|large type of P-DLG|placenta and prostate DLG protein-coding 734098 DLGAP1 discs, large (Drosophila) homolog-associated protein 1 728740,1580863 17474147,9286858,15673434,15345747,12954649,12477932,11122378,11060025,10844022,10527873,10521485,9756850,9221768,9115257,9024696,15729360,11148209,9694864,20936779,21041448,21070662,19913121,20628086,20237496,20379614 728740 9229 AB000276,AB000277,AK294717,AK294747,AK294777,AK299880,AK304101,AK316099,BC070175,BC136453,BC136454,U67988,NM_001003809,AP002472,AP002478,AP005204,CH471113,NM_004746 EAX01655,EAX01656,EAX01657,EAX01658,EAX01659,BAA23257,BAA23258,BAH11858,BAH11868,BAH11881,BAH13160,BAH14105,BAH14470,AAH70175,AAI36454,AAI36455,AAC51119,O14490,Q6IS01,NP_004737,NP_001003809,EAX01652,EAX01653,EAX01654 Hs.654793 DAP-1|DAP-1-ALPHA|DAP-1-BETA|GKAP|MGC88156|SAPAP1|hGKAP OTTHUMP00000174377|OTTHUMP00000174378|PSD-95/SAP90 binding protein 1|PSD-95/SAP90-binding protein 1|SAP90/PSD-95-associated protein 1|disks large-associated protein 1|guanylate kinase-associated protein protein-coding 1345358 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 The product of this gene is one of the membrane-associated guanylate kinases localized at postsynaptic density in neuronal cells. These kinases are a family of signaling molecules expressed at various submembrane domains and contain the PDZ, SH3 and the guanylate kinase domains. This protein may play a role in the molecular organization of synapses and in neuronal cell signaling. Alternatively spliced transcript variants encoding different isoforms have been identified, but their full-length nature is not known. [provided by RefSeq] 1580863 10759891,15030493,14508709,12390249,11700307,11368788,10854099,10824095,10521485,9314494,9286858,9221768,9115257,10527873,18055845,9694864,19913121,20628086,12477932,17474147,19736351,20379614,20531469 9228 NM_004745,NG_009409,AC005010,AC126333,CH471181,AA443942,AA444121,AB000275,AF009204,AF119817,AF119818,AW195368,BC141862 NP_004736,EAW51474,EAW51475,BAA23256,AAB71661,AAF34344,AAF34345,AAI41863,Q9P1A6 Hs.113287 DAP2|SAPAP2 PSD-95/SAP90-binding protein 2|SAP90/PSD-95-associated protein 2|disks large-associated protein 2 protein-coding 1347439 DLGAP3 discs, large (Drosophila) homolog-associated protein 3 1580863 17474147,19096451,19051237,16202977,12477932,9110174,8619474,10527873,9115257,21046633 58512 NM_001080418,AC114490,AL122010,AF131778,AK294907,BC114369,BC114370 NP_001073887,CAI23556,AAD20042,BAG57994,AAI14370,AAI14371,O95886 Hs.436393 DAP3|SAPAP3 DAP-3|OTTHUMP00000004180|PSD-95/SAP90-binding protein 3|SAP90/PSD 95 associated protein 3|SAP90/PSD-95-associated protein 3|disks large-associated protein 3 protein-coding 1605091 DLGAP4 discs, large (Drosophila) homolog-associated protein 4 The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16275660,17474147,19086053,16344560,15146197,14702039,12477932,11780052,10521485,10231032,9115257,10527873,16169070,11487731,9620694,9581761,10862698,12675619 22839 NM_014902,NM_001042486,NM_183006,AL050318,AL390374,AL445705,CH471077,AB023181,AF088030,AI984397,AK001681,AK024674,AK055152,AK057672,AK125383,BC023214,BC108706,BC118623,BC153874,BF345846,BU845397,CN419826,CR610787,CR617588,DA215461,DA688888,DB283453 NP_055717,NP_001035951,NP_892118,CAI23506,CAI23507,CAI23509,CAI17927,CAI17928,CAI17929,EAW76135,EAW76136,EAW76137,EAW76138,EAW76139,EAW76140,BAA76808,AAI08707,AAI53875,Q9Y2H0,AAI67861 Hs.249600 DAP4|DLP4|FLJ20588|KIAA0964|MGC131862|RP5-977B1.6|SAPAP4 DAP-4|OTTHUMP00000030862|PSD-95/SAP90-binding protein 4|SAP90/PSD-95-associated protein 4|SAPAP-4|disks large associated protein 4|disks large-associated protein 4 protein-coding 1322602 DLGAP5 discs, large (Drosophila) homolog-associated protein 5 1580863 15145941,12527899,19139432,18321990,17322106,17081983,16964243,16769820,16565220,16341674,16189514,15987997,15489334,15340842,15302935,14729942,12477932,11543626,9179496,7584028,7584026,12902344 9787 NM_014750,NM_001146015,AL139316,CH471061,AB076695,AI174844,AK291847,AK297480,AK299338,BC010658,BC016276,BM788630,BT007344,BX248255,CR622849,D13633,DB448424,DB451654,HC250953,HC311142 NP_055565,NP_001139487,EAW80662,EAW80663,EAW80664,BAB97376,BAF84536,BAG59901,BAG61340,AAH10658,AAH16276,AAP36008,CAD62583,BAA02797,Q15398,Q86T11,CBJ05774,CBJ21226 Hs.77695 DLG7|HURP|KIAA0008 DAP-5|Drosophila discs large-1 tumor suppressor-like|OTTHUMP00000179007|discs large homolog 7|discs, large homolog 7|disks large-associated protein 5|disks large-associated protein DLG7|hepatoma up-regulated protein protein-coding 2793690 DLGAP5P1 discs, large (Drosophila) homolog-associated protein 5 pseudogene 1 12815422,9847074 360014 AC010140,NG_002932 pseudo 732542 DLK1 delta-like 1 homolog (Drosophila) 1625600,1625622,1580863 8500166,7925474,8095043,19453261,18628527,18575777,18454453,18398438,18375047,18352842,18248640,18176563,17601927,17301032,17182623,16901742,16403460,16288219,15959531,15806146,15489334,15340161,15289021,15120973,15068508,12768436,12672031,12477932,12112016,12036964,11846389,11742219,11701723,11101697,10508217,10393432,10354070,8985741,8501199,7711066,3470797,2308864,20214740,11076856,11168589,11337479,11731499,12045206,12239715,12815599,15010842,15677533,15798773,15854893,16439445,16778176,17213841,18282507,18478039,18532878,18698157,19427405,19477929,19541743,19685073,19786834,19934310,19966805,20058200,20089961,20170633,9001251,20356822,20331358,17207965 1625600,1625622 8788 CR600022,CR614640,CR617526,CR623115,CR600076,CR600085,CR600215,CR600320,CR600394,CR600528,CR601557,CR601740,CR601855,CR602159,CR602394,CR602740,CR602768,CR602802,CR602981,CR603073,CR603336,CR603711,CR603797,CR604081,CR604419,CR604453,CR604832,CR604853,CR605265,CR605266,CR605736,CR605811,CR605835,CR606305,CR606310,CR606836,CR606894,CR607193,CR607765,CR607822,CR608431,CR608554,CR608725,CR608997,CR609275,CR609354,CR609387,CR609862,CR609887,CR610043,CR610151,CR610384,CR610577,CR610595,CR610667,CR610708,CR610715,CR610933,CR611040,CR611100,CR611355,CR611431,CR611474,CR611562,CR611747,CR611973,CR612514,CR612689,CR612731,CR613234,CR613751,CR613902,CR614012,CR614142,CR614234,CR614483,X17544,Z12172,NM_003836,AL132711,CH471061,AK289384,AK297918,AK313258,BC007741,BC013197,BC014015,BU176937,CB857925,CR589972,CR590000,CR590145,CR590597,CR590639,CR590696,CR590868,CR590961,CR591376,CR591750,CR591860,CR592008,CR592286,CR592721,CR592735,CR592754,CR593067,CR593182,CR593304,CR593712,CR593808,CR593941,CR594070,CR594715,CR594723,CR595013,CR595177,CR596202,CR596394,CR596596,CR596754,CR596929,CR597087,CR597152,CR597265,CR597370,CR597891,CR597924,CR597965,CR598209,CR598509,CR598594,CR598595,CR598762,CR598814,CR599401,CR599430,CR599590,CR599990,CR614781,CR614816,CR614955,CR615076,CR615229,CR615356,CR615937,CR615960,CR616156,CR616316,CR616841,CR616866,CR616973,CR617117,CR617119,CR617162,CR617425,CR617612,CR617614,CR617652,CR617661,CR617690,CR617772,CR617802,CR618084,CR618205,CR618442,CR618447,CR618588,CR618723,CR618756,CR618844,CR619078,CR619153,CR619260,CR619434,CR619577,CR619730,CR619979,CR620044,CR620249,CR620433,CR620437,CR620479,CR620921,CR620982,CR620985,CR621100,CR621464,CR621555,CR621769,CR621872,CR622031,CR622411,CR622537,CR622612,CR622768,CR622816,CR622936,CR622964,CR623006,CR623045,CR623088,CR623338,CR623771,CR624072,CR624158,CR624223,CR624263,CR624855,CR624873,CR624905,CR624906,CR625167,CR625354,CR625462,CR625863,CR625975,CR626034,CR626040,CR626215,DQ017081,DQ126100,DQ138965,DQ309460,U15979,U15981,BX357053,DB498121,NG_016863 CAA35582,CAA78163,P80370,Q0H2C6,Q45KX0,Q4U3E1,Q969Y6,NP_003827,EAW81711,EAW81712,EAW81713,BAF82073,BAG60236,BAG36068,AAH07741,AAH13197,AAH14015,AAY40461,AAZ38943,AAZ66768,ABC26875,AAA75364,AAA75365,ADQ32169 Hs.533717 DLK|FA1|PREF1|Pref-1|ZOG|pG2 DLK-1|delta-like homolog (drosophila)|fetal antigen 1|preadipocyte factor 1|protein delta homolog 1|secredeltin protein-coding 1319320 DLK2 delta-like 2 homolog (Drosophila) 17320102,16189514,15489334,14702039,14574404,12975309,12477932 65989 NM_023932,AL359813,CH471081,CQ848428,AK055380,AY358126,BC000230,BC006425,BC110320,BI916137,CR605295,NM_206539 Q6UY11,Q5T3U1,NP_996262,NP_076421,CAI23221,CAI23222,CAI23223,CAI23224,EAX04186,EAX04187,EAX04188,EAX04189,EAX04190,EAX04191,CAH18056,BAG51509,AAQ88493,AAH00230,AAH06425,AAI10321,Q5T3T9,Q5T3U0 Hs.337251 EGFL9|MGC111055|MGC2487 DLK-2|EGF-like protein 9|EGF-like-domain, multiple 9|OTTHUMP00000016447|OTTHUMP00000016450|epidermal growth factor-like protein 9|protein delta homolog 2 protein-coding 733842 DLL1 delta-like 1 (Drosophila) DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq] 2302204,1580863,1304491,1304492 10079256,11823422,11581320,11912004,19150223,18676613,18320325,18236070,17584735,17234965,16344560,16317090,16307184,16225865,15976178,15908431,15905513,15851488,15781650,15605081,15509766,15492857,14574404,12975309,12826675,12794186,12684674,12482954,12393852,12050162,12036964,11006133,10958687,10688816,10473135,10473134,9882480,9858718,11346656,9244302,14769803,15254769,14529612,17939407,19590514,19603167,19680556,19724883,20418862,20554499 2302204,1304491,1304492 28514 AY358892,BC028096,DA243552,DR000029,NM_005618,AF222310,AL078605,CH471051,AF196571,AK314234,NG_027940 AAQ89251,O00548,AAI52804,NP_005609,AAG09716,CAB89569,EAW47425,AAF05834,BAG36904 Hs.379912 DELTA1|DL1|Delta H-Delta-1|delta-like 1 protein|delta-like protein 1|drosophila Delta homolog 1 protein-coding 735462 DLL3 delta-like 3 (Drosophila) This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 2302204,1599775,1580863,1304491,1304493 10742114,18676613,16344560,16303743,15717203,15489334,15200511,12791036,12746394,12477932,11923214,10364530,19453261,21048031 2302204,1599775,1304491,1304493 10683 NM_016941,NM_203486,NG_008256,AC011500,AF241373,CH471126,AA865362,AK075302,AK308460,BC000218,BQ420593,DB035825 NP_058637,NP_982353,AAF62542,EAW56905,EAW56906,BAC11535,AAH00218,Q8NBS4,Q9NYJ7,ABM82773,ABM85961 Hs.127792 SCDO1 delta-like protein 3|delta3|drosophila Delta homolog 3 protein-coding 1320241 DLL4 delta-like 4 (Drosophila) This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq] 2302204,1580863 10837024,19263417,19208840,18577711,18435556,18339870,18056450,18055448,17998388,17916635,17822320,17692341,17664272,17533181,17157169,16914569,16204037,15820317,15489334,15340161,14990974,12975309,12814948,12684674,12482957,12477932,12200365,11798067,11739188,11134954,20558614,20167561,16344560,20167860,20508179,19816565,20036815,20193271,20959466 2302204 54567 NM_019074,AC020661,CH471125,AB036931,AB043894,AF253468,AF279305,AK308755,AK313831,AY358894,BC106950,BI820351,AI478830,DA089757 NP_061947,EAW92466,BAB16085,BAB18581,AAF76427,AAF81912,BAG36565,AAQ89253,AAI06951,Q9NR61 Hs.511076,Hs.722188 MGC126344|hdelta2 delta 4|delta ligand 4|delta-like 4 homolog|delta-like 4 protein|delta-like protein 4|delta4|drosophila Delta homolog 4|notch ligand DLL4|notch ligand delta-2 protein-coding 1351694 DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 1580863,2306878,1358587 8009371,18029348,2188967,16344560,16169070,15489334,15146197,15038610,12805207,12477932,11825528,11445257,11436125,9894876,9727038,9405249,8889549,8889548,8584231,8268217,8240324,8076640,3753002,3571202,2365294,1943690,17220478,17207965,20877624,19615732,20379614,15466852 2306878,1358587 1743 NM_001933,AC006530,CH471061,D26535,AA101667,AI087261,AK289414,AK299505,AK316463,AL538322,AU133381,BC000302,BC001922,BC002735,BM682697,BM928746,BM929953,BX248276,BX248764,BX248774,CN422511,CR456727,CR600036,CX163292,D16373,DC338747,L37418,D17297,NR_033814 NP_001924,AAD30181,EAW81199,EAW81200,EAW81201,EAW81202,BAA05536,BAF82103,BAH13054,BAH14834,AAH00302,AAH01922,CAD62604,CAD66571,CAD66581,CAG33008,BAA03871,AAB59629,P36957,Q6IBS5,Q6LEQ7,Q86SW4,Q86TQ8,Q86TW7,BAA04130,ADQ32761 Hs.525459 DLTS 2-oxoglutarate dehydrogenase complex component E2|E2K|OGDC-E2|dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex|dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial protein-coding 1343406 DLSTP dihydrolipoamide S-succinyltransferase pseudogene (E2 component of 2-oxo-glutarate complex) 1580863 8076640,8009371 1744 NG_002326,AL357314,D29970 Q16187 DLSTP pseudo 1320012 DLX1 distal-less homeobox 1 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 19453261,19058789,18728693,18384059,16266434,15489334,14769946,14702039,14671321,12477932,12050665,7907794,20634891 1745 NM_178120,NM_001038493,NG_009218,AC015976,CH471058,AK095266,AK290503,AK308842,AY257976,BC013010,BC036189,BC053351,CR600227,CR624708 NP_835221,NP_001033582,AAY14732,EAX11181,EAX11182,EAX11183,EAX11184,EAX11185,EAX11186,EAX11187,BAC04515,BAF83192,AAO91939,AAH36189,AAH53351,P56177,Q53SU3,Q7Z724,Q8N1R4,ABW03739,ABW03404 Hs.407015 OTTHUMP00000082494|OTTHUMP00000082497|distal-less homeo box 1|homeobox protein DLX-1 protein-coding 1312529 DLX2 distal-less homeobox 2 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq] 1580863 1354641,7590232,19453261,19018235,18728693,15751970,15489334,12957859,12477932,11675124,9111364,8812481,7907794,7901126,11279128,20634891 1746 NG_009219,AC104801,CH471058,U51003,AA912071,AB208823,AK291367,AK297503,AK316129,BC032558,BE905163,CR592469,L07919,NM_004405 ADR82772,AAA19663,NP_004396,AAY14956,EAX11180,AAB40902,BAD92060,BAF84056,BAG59916,BAH14500,AAH32558,Q07687,Q53QU7,Q59HD6 Hs.419 TES-1|TES1 distal-less homeo box 2|homeobox protein DLX-2 protein-coding 1312567 DLX3 distal-less homeobox 3 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq] 1580863 20542333,9467018,19453261,19282665,18978678,18492670,18362318,18203197,17611665,17559453,16687405,16467978,16303743,16301156,16247549,16187309,15666299,15489334,15454107,14670999,12878157,12477932,11792834,11773066,11343707,11113121,8975708,8889548,7613049,19608154,20151948 1747 NM_005220,AC009720,AF028233,AF452638,CH471109,CQ783858,AA604314,AK075167,AK313257,BC012361,BC028970,BM982262,CB990401,NG_023063 NP_005211,AAC14397,AAL99504,EAW94650,CAF86895,BAG52078,BAG36067,AAH12361,AAH28970,O60479,ABM83151,ABM86351 Hs.134194 AI4|TDO distal-less homeo box 3|homeobox protein DLX-3 protein-coding 1318695 DLX4 distal-less homeobox 4 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq] 1580863 16712791,17474147,9073066,11069021,19242057,18992636,18978678,18931648,18420035,18026954,17999690,17260014,17062780,17003054,15489334,15308321,12820413,12477932,11909945,11792834,11707330,11084035,10831122,9665637,9481790,9467018,9096128,8975708,20634891 1748 NM_138281,NM_001934,AC009720,AF028235,AF452638,CH471109,AF254115,BC005812,BC014419,BC016145,BT006978,BX113580,CB131875,DR004878,U31762,U73328 NP_612138,NP_001925,AAC14398,AAL99503,EAW94651,EAW94652,EAW94653,EAW94654,EAW94655,AAG31975,AAH05812,AAH14419,AAH16145,AAP35624,AAC51171,AAC50942,Q92988 Hs.591167 BP1|DLX7|DLX8|DLX9 beta protein 1|distal-less homeo box 7|distal-less homeo box 9|homeobox protein DLX-4|homeobox protein DLX-7|homeobox protein DLX-8 protein-coding 733723 DLX5 distal-less homeobox 5 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq] 1580863 7907794,18029348,19453261,18413826,18316591,17701895,17363207,16582099,16467978,16344560,15954098,15489334,14702039,12853948,12782124,12690205,12477932,12145306,11959851,11675124,11084035,10516593,10451362,9111364,8889549,7987313,20808887,19195802,19497851,20634891 1749 NM_005221,NG_009220,AC004774,CH236949,CH471091,AA129308,AK023493,AK297614,BC006226,BT006903,CR593435,DB280023 NP_005212,AAC17833,EAL24121,EAW76741,BAB14587,BAH12629,AAH06226,AAP35549,P56178,Q53Y73 Hs.99348 distal-less homeo box 5|homeobox protein DLX-5 protein-coding 1347834 DLX6 distal-less homeobox 6 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq] 1580863 7907794,15489334,14702039,12853948,12707945,12477932,12193642,11711438,8733122,20808887,19195802,8012384,19453261,17701895,20634891 1750 CH236949,CH471091,AK094086,BC069363,BC103688,BC103689,BC103690,BC109381,BU616500,Z58433,NM_005222,AC004774 EAL24122,EAW76744,BAG52812,AAH69363,AAI03689,AAI03690,AAI03691,AAI09382,P56179,NP_005213,AAC17832 Hs.249196 MGC125282|MGC125283|MGC125284|MGC125285 distal-less homeo box 6|homeobox protein DLX-6 protein-coding 3029858 DLX6AS DLX6 antisense RNA (non-protein coding) 12477932,12690205,14702039,16705037,20923822 285987 AC004774,AK055423,AK091367,AK095619,AK095764,BC101445,BC101446,BC101447,BC101985,BC113049,BE263812,CH236949,NR_015448 EAL24123 Hs.34969 DLX6-AS|DLX6AS|Evf-2|FLJ34048|NCRNA00212 miscrna 1351427 DM1 dystrophia myotonica 1 (includes dystrophia myotonia protein kinase) 338023 1322676 DMAP1 DNA methyltransferase 1 associated protein 1 This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1580863 15033475,10888872,14966270,17081983,16964243,16710414,16381901,16341674,15647280,15489336,15489334,15367675,15345747,15196461,14978102,14734556,14702039,14665632,12963728,12477932,11913976,11230166,11076863,10718198,20920467,20864525,16712791,16387653,17643375,19845771 55929 NM_019100,NM_001034023,NM_001034024,AL035417,CH471059,AB037846,AF265228,AK021605,AK054954,AK092898,AK096252,AK289366,AK293598,AK298793,AK300217,AK300372,AK300442,AL136657,AL137200,BC002855,BC008053,BM827551,BU616029,BX537895,CA842195,CB123593 NP_061973,NP_001029195,NP_001029196,CAI23197,CAI23198,CAI23199,CAI23200,CAI23201,CAI23202,EAX07046,EAX07047,EAX07048,EAX07049,EAX07050,EAX07051,BAA92663,AAF87079,BAB13854,BAF82055,BAG57063,BAG60930,BAG61985,BAG62108,BAG62165,CAB66592,AAH02855,AAH08053,CAD97886,Q5TG36,Q5TG37,Q5TG38,Q5TG40,Q9NPF5,CAL38490,ABM84100,ABM87472,CAB69910 Hs.8008 DKFZp686L09142|DNMAP1|DNMTAP1|EAF2|FLJ11543|KIAA1425|MEAF2|SWC4 DNA methyltransferase 1-associated protein 1|DNMT1 associated protein 1|DNMT1-associated protein 1|OTTHUMP00000008891 protein-coding 735357 DMBT1 deleted in malignant brain tumors 1 Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. The gene DMBT1 was originally isolated based on its deletion in a medulloblastoma cell line. DMBT1 is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The DMBT1 protein is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor supressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq] 1599778,1599780,1599782,1580863 10485905,12681477,9288095,14676191,14732920,19207948,19189310,18849643,18713006,18641344,18452511,18020944,17983803,17908325,17709527,17548659,17243023,17066405,16796526,16790779,16740002,16190864,16042587,15866713,15760920,15754018,15731026,15564322,15355985,15301691,15242536,15228387,15218048,15164054,15101998,14603438,12871854,12672033,12477932,12368192,12353266,12239452,12203780,12185598,12168116,12050164,12015815,11912156,11829014,11751412,11563989,11550206,11007786,10597221,10551316,10101009,9888459,9153228,7784070,12689412,16385451,19465482,19553331,19830809,20418254 1599778,1599780,1599782 1755 NM_007329,NM_004406,NM_017579,NG_012644,AB020851,AJ243211,AL603764,CH471066,AB209691,AF159456,AJ000342,AJ243212,AJ243224,AJ297935,AK304128,AK304149,BC153299,BX640988,FJ234410 NP_015568,NP_004397,NP_060049,BAA78577,CAB63941,CAI14487,CAI14488,CAI14489,CAI14490,CAI14491,CAI14492,CAI14493,CAI14494,CAI14495,CAI14496,EAW49308,EAW49309,EAW49310,EAW49311,BAD92928,AAD49696,CAA04019,CAB56155,CAB63942,CAC44122,BAG65024,BAH14118,AAI53300,CAE45995,ACI95281,Q9UGM3 Hs.279611 FLJ61058|GP340|MGC164738|muclin OTTHUMP00000020654|OTTHUMP00000020655|OTTHUMP00000020656|OTTHUMP00000020657|OTTHUMP00000020658|OTTHUMP00000020659|OTTHUMP00000020660|OTTHUMP00000020661|OTTHUMP00000020662|OTTHUMP00000020663|SAG|deleted in malignant brain tumors 1 protein|glycoprotein 340|gp-340|hensin|salivary agglutinin|surfactant pulmonary-associated D-binding protein protein-coding 1317940 DMBX1 diencephalon/mesencephalon homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 17990594,16710414,12142024,12055180,15890343 127343 NM_172225,NM_147192,AL137797,CH471059,AB037699,AF398527,AF398528,AY726596 NP_757379,NP_671725,CAI19184,CAI19185,EAX06907,BAC00920,AAM90589,AAM90590,Q8NFW5,AAI56065,AAI56882 Hs.375623 MBX|OTX3|PAXB diencephalon/mesencephalon homeobox protein 1|homeoprotein MBX|orthodenticle homolog 3|paired-like homeobox protein DMBX1|paired-like homeobox protein DMBX1-like protein-coding 1316904 DMC1 DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) The protein encoded by this gene is essential for meiotic homologous recombination. Genetic recombination in meiosis plays an important role in generating diversity of genetic information. The product of this gene is structurally and evolutionary related to the products of the yeast RAD51 and E. coli RecA genes. Alternative splice variants of this gene have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 19714462,18535008,18355319,18166824,17639081,17541404,15917244,15917243,15489334,15461802,15164066,15125839,14764457,12477932,11950880,10591208,10562567,9826763,11005857,20600108,8602360,8590282,18029348,19076215,19004837,18566005,16415210,20378615 11144 AL022320,NM_007068,AY520538,CH471095,AK292617,AK297664,BC035658,BC125163,BC125164,BM545092,CR456486,D63882,D64108,NG_017203 CAB45656,CAQ09798,CAQ09799,NP_008999,AAR89915,EAW60249,BAF85306,BAG60028,AAH35658,AAI25164,AAI25165,CAG30372,BAA09932,BAA10970,Q14565,Q8IYL1,CAK54477,CAK54776 Hs.339396 DMC1H|HsLim15|LIM15|MGC150472|MGC150473|dJ199H16.1 DMC1 homologue|OTTHUMP00000199222|disrupted meiotic cDNA1, yeast, homolog of|meiotic recombination protein DMC1/LIM15 homolog protein-coding 736976 DMD dystrophin The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq] 1580858,1580859 12833401,1307251,18652600,18646563,18639760,18589007,18583217,18570328,18445268,18353051,18261477,18253029,18160999,18083704,18059005,18054699,18039686,18031759,18029348,17997718,17993586,17981813,17826093,17767400,17680544,17579806,17503325,17487865,17487735,17428346,17385798,17314512,17285139,17166095,17150596,17145200,16936400,16917894,16891620,16883579,16883524,16824516,16807118,16716778,16710609,16569668,16496225,16461336,16439510,16380627,16344560,16331671,16295426,16286249,16286242,16276108,16246949,16133659,16094384,15772651,15723292,15655674,15643612,15637982,15528988,15024025,14659407,14652441,14636778,14600269,14559354,14556187,14514278,14513410,12920092,9412493,20847377,20696926,20373002,20381484,20936779,16524176,19001018,19109891,19158820,19449031,19602481,19609279,19687056,19783145,19793655,19907931,19927354,19937601,19959795,20019182,20031633,20098710,7592992,20625423,20434517,12376554,7545544,16000376,16777071,3282674,3287171,1824797,10867799,8282811,19409785,19379759,19230662,19206170,19194174,19173203,19158079,19084397,19074751,19040728,19012301,19009915,18974567,18971620,18957722,18957474,18935728,18853462,18799475,18752307,18653336,12757471,12754707,12754415,12659812,12655282,12632325,12606026,12596052,12522557,12480947,12477932,12398834,12389738,12376747,12370193,12359139,12354438,12206800,12189167,12140183,12107815,12062429,12031623,11997265,11922612,11917091,11882782,11861579,11796130,11795488,11741599,11726549,11717465,11571312,11430802,11381192,11352924,11259305,11076863,11039581,10932245,10801490,10767429,10747910,10573008,10545507,10355629,10227401,9851445,9813236,9701558,9683584,9461390,9419360,9410897,9395493,9356463,9339369,9170407,9119397,8950674,8817332,8789442,8576247,8566960,8541829,8518789,8513330,8499922,8401582,8401537,8387534,8361506,8358174,8322822,8314593,8301652,8279470,8277968,8199594,8160755,8123157,8083345,8078878,8045556,7981690,7981590,7951253,7890770,7890602,7881286,7849724,7844150,7825571,7795584,7649554,7633443,7581396,3955860,3773991,3659917,3607877,3428261,3346018,3205741,3055295,2909892,2825128,2677830,2668885,2648158,2569720,2407739,2406613,2403634,2261642,2176467,2071150,1996328,1918370,1889805,1757094,1632439,1601417,1549596,1544421,1513469,1505985,1483053,1383546,1380160,1377655,1319059,1307253,20399196,19913121,20485447,20516809,20628086,20646909,20630757 1580858,1580859 1756 NM_004006,NM_004009,NM_004010,NM_004007,NM_004012,NM_004011,NM_004023,NM_004022,NM_004021,NM_004013,NM_004020,NM_004014,NM_004018,NM_004017,NM_004016,NM_004015,NM_004019,NG_012232,AB037493,AC004468,AC006061,AC078957,AC078958,AC079143,AC079175,AC079177,AC079864,AC090632,AC093167,AC093193,AC096506,AF047502,AF047505,AF213402,AF213403,AF213404,AF213405,AF213406,AF213407,AF213408,AF213409,AF213410,AF213411,AF213412,AF213413,NM_000109,U60822,U90310,U94396,X06293,X13045,X13046,X13047,X13048,X15495,X54820,AB208836,AK129855,AK299936,AK309142,BC009242,BC010932,BC028720,BC036103,BC070078,BC094758,BC127103,BC150141,DA804849,DB233002,L35854,M18533,M63072,M63073,M63074,M63075,M92650,S38776,S42206,AF213415,AF213416,AF213417,AF213418,AF213419,AF213420,AF213421,AF213422,AF213423,AF213424,AF213425,AF213426,AF213427,AF213428,AF213429,AF213430,AF213431,AF213414,S60973,S62617,S64152,S81419,X06178,X06179,X14298,X15148,X15149,AF213433,AF213434,AF213435,AF213436,AF213437,AF213438,AF213439,AF213440,AF213441,AF213442,AF213443,AF213444,AJ271220,AL031542,AL031643,AL049643,AL050305,AL096699,AL109609,AL121880,AL139278,AL139401,AL451144,AL596023,CH471074,D32048,L01538,L05642,L05646,L05649,M23261,M32058,M81257,M86903,S42212,U27203 Q8WYC7,NP_000100,NP_003997,NP_004000,NP_004001,NP_003998,NP_004003,NP_004002,NP_004014,NP_004013,NP_004012,NP_004004,NP_004011,NP_004005,NP_004009,NP_004008,NP_004007,NP_004006,NP_004010,BAA90413,AAD03808,AAD03809,AAL61550,AAL61551,AAL61552,AAL61553,AAL61554,AAL61555,AAL61556,AAL61557,AAL61558,AAL61559,AAL65098,AAC51631,AAB53001,CAE82077,CAA31451,CAA31452,CAA31453,CAA31454,CAA33518,CAA38589,BAD92073,BAG61769,AAH09242,AAH28720,AAH36103,AAH70078,AAH94758,AAI27104,AAI50142,AAA53189,AAA52312,AAA52313,AAA52314,AAA52315,AAA52316,AAL61560,AAB22395,AAL61561,AAL61562,AAL61563,AAL61564,AAL61565,AAL61566,AAL61567,AAL61568,AAL61569,AAL61570,AAL61571,AAL61572,AAL61573,AAL61574,AAL61575,AAL61576,AAL61577,AAB27159,AAD14363,CAA29544,CAA29545,CAA32479,CAA33245,CAA33246,P11532,Q08947,Q14172,Q14174,Q14205,Q15945,Q16428,Q16484,Q548X2,Q59HC3,Q6NSJ9,Q6PK12,Q7KYP7,Q7KZ40,Q8N754,Q8TCV2,Q8WTQ2,Q8WYB7,Q8WYB8,Q8WYB9,Q8WYC0,Q8WYC1,Q8WYC2,Q8WYC3,Q8WYC4,Q8WYC5,Q8WYC6,AAD13820,AAL61579,AAL61580,AAL65099,AAL65100,AAL61581,AAL61582,AAL61583,AAL61584,AAL61585,AAL61586,AAL61587,AAL61588,AAL61589,CAD30261,CAI42228,CAI42229,CAI42230,CAI43056,CAI43057,CAI43058,CAI43007,CAI42099,CAI42224,CAI42225,CAI42226,CAI42227,CAI42948,CAI42949,CAI42950,CAI42991,CAI39563,CAI39564,CAI39565,CAI39566,CAI39567,EAW99061,EAW99062,EAW99063,EAW99064,EAW99065,EAW99066,AAA74506,AAA74507,AAA74508,AAA52309,AAA52330,AAA35779,AAD13821,AAA86115,AAL61578,AAA86116,Q8WYC8,Q8WYC9,Q8WYD0,Q8WYD1,Q8WYD2,Q8WYD3,Q8WYD4,Q8WYD5,Q8WYD6,Q8WYD7,Q8WYD8,Q8WYD9,Q8WYE0,Q8WYE1,Q8WYE2,Q8WYE3,Q8WYE4,Q8WYE5,Q8WYE6,Q8WYE7,Q8WYE8,Q8WYE9,Q8WYF0,Q8WYF1,Q8WYF2,Q8WYF3,Q8WYF4,Q8WYF5,Q8WYF6,Q9UEH4,Q9UME2,Q9UMG1,Q9UMK6,Q9UMK7,Q9UMK8,Q9UPB4,Q9UPB5,AAI11588,AAI11837,AAI11935,AAI18003 Hs.495912 BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272 OTTHUMP00000023121|OTTHUMP00000215590|OTTHUMP00000215591|OTTHUMP00000215592|dystrophin|dystrophin (muscular dystrophy, Duchenne and Becker types) protein-coding 731431 DMGDH dimethylglycine dehydrogenase This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. [provided by RefSeq] 1547831,1580863 11231903,10767172,19048631,18937046,14702039,12477932,10102904,7513513,1710985,20877624,19913121,20628086,20634891,20662904 1547831 29958 NM_013391,NG_012164,AC008502,AC020937,CH471084,AF111858,AI469206,AK057641,AK300894,AK303873,AK314736,BC022388 NP_037523,EAW95824,EAW95825,AAF21941,BAG51946,BAG62533,BAG64811,BAG37277,AAH22388,Q8TCC6,Q9UI17,AAI56313,AAI72462 Hs.655653 DMGDHD|ME2GLYDH dimethylglycine dehydrogenase, mitochondrial protein-coding 1605012 DMKN dermokine This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain compliments. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, but the full-length nature of some of them has not been determined. [provided by RefSeq] 17380110,16374476,15234001,14702039,12975309,12477932,11441184,15342556,17207965 93099 AY789706,AY789707,BC004493,BC011886,BC035311,EF158319,EF158320,EF158321,EF158322,EF158323,EF158324,EF158325,EF158326,NM_001126059,NM_001035516,NM_001126058,NM_001126057,NM_001126056,AC138125,AD001502,AF086315,AK096215,AK125695,AK304668,AK316475,AL832080,AY358412,AY622964,AY622965,AY789695,AY789696,AY789697,AY789698,AY789699,AY789700,AY789701,AY789702,AY789703,AY789704,AY789705,NM_033317,AI914430,BP326188,NM_001190347,NM_001190348,NM_001190349,NR_033746 AAX48756,AAX48757,AAH04493,AAH11886,AAH35311,ABN11271,ABN11272,ABN11273,ABN11274,ABN11275,ABN11276,ABN11277,ABN11278,AAX48755,Q6E0U4,NP_201574,NP_001119531,NP_001030593,NP_001119530,NP_001119529,NP_001119528,BAG65443,BAH14846,AAQ88778,AAT68268,AAT68269,AAX48745,AAX48746,AAX48747,AAX48748,AAX48749,AAX48750,AAX48751,AAX48752,AAX48753,AAX48754,NP_001177276,NP_001177277,NP_001177278,ADQ31917 Hs.417795 FLJ79374|FLJ79374,|UNQ729|ZD52F10 OTTHUMP00000207839|OTTHUMP00000207840|OTTHUMP00000207842|OTTHUMP00000207891|OTTHUMP00000207892|OTTHUMP00000207894|OTTHUMP00000208003|OTTHUMP00000208004|OTTHUMP00000208006|dermokine|epidermis-specific secreted protein SK30/SK89 protein-coding 736576 DMP1 dentin matrix acidic phosphoprotein 1 Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 11825898,10775676,10757113,9177774,8889549,8586437,20213538,11856645,8509401,19453261,19007919,18819913,18757373,18660670,18214537,18037646,17936562,17434448,17136477,17033625,17033621,16679514,16421105,16357164,16294270,15954904,15728181,15329369,15108359,15001995,14578349,12929940,12615915,12477932,19679205,19796717,20201926,19913121,20628086 1758 NM_004407,NM_001079911,NG_008988,AC093895,CH471057,U34037,AI371158,BC130581,BC132865,H89203,U65378,U89012 NP_004398,NP_001073380,EAX05996,EAX05997,AAA97602,AAI30582,AAI32866,AAB87728,AAC51332,Q13316,ADR83044 Hs.652366 ARHP|ARHR|DMP-1 dentin matrix acidic phosphoprotein 1|dentin matrix protein 1 protein-coding 1320371 DMPK dystrophia myotonica-protein kinase The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863,1600900 10913253,15598648,1310900,19309729,19166838,19127114,18798829,18648326,18611984,18577525,18574937,18474935,18228241,18184345,18029348,17846170,17825047,17433680,17204048,17192963,20346670,16946708,16636244,16519679,16285929,16193250,16099181,15981568,15894391,15824798,15722335,15583383,15476170,15462191,15317754,15284213,15210527,15079005,15039975,15017064,14759258,14701736,14657503,14607980,14510658,12832055,12697816,12600888,12598332,12477932,12427866,12220642,11931630,11903304,11903110,11793472,11781699,11768387,11768386,11766468,11752456,11748308,11592825,11555624,11527424,11287000,11121205,10869570,10811636,10601309,10400997,10026240,9949207,9872056,9811941,9490724,9371827,8595416,8499920,8469976,8401505,8288237,8281152,8076686,7905855,7488138,2037285,1546326,1546325,1303233,1302022,10625651,19913121,20628086,20801043,16169070,16713569,19514047,19626675,19946639,19948975,20228473,20231114,20421627,20685272,20644219,20843780 1600900 1760 AK302874,AK304749,AV655848,BC026328,BC062553,BG706056,L19268,M87312,M94203,S72883,S86455,U46546,NM_001081560,NM_001081562,NM_001081563,NG_009784,AC011530,AC074212,CH471126,L00727,L08835,L19266,AB209363,AK297299,NM_004409,HQ205626,HQ205627,HQ205628,HQ205629,HQ205630,HQ205631,HQ205632,HQ205633,HQ205634,HQ205635,HQ205636,HQ205637,HQ205638,HQ205639,HQ205640,HQ205641,HQ205642,HQ205643,HQ205644,HQ205645,HQ205646,HQ205647,HQ205648,HQ205649,HQ205650,HQ205651,HQ205652,HQ205653,HQ205654,HQ205655,HQ205656,HQ205657,HQ205658,HQ205659,HQ205660,HQ205661,HQ205662,HQ205663,HQ205664,HQ205665 BAG64054,BAH14251,AAH26328,AAH62553,AAA36206,AAA64884,AAB31800,AAA87583,Q09013,Q59FU6,NP_004400,NP_001075029,NP_001075031,NP_001075032,EAW57380,EAW57381,EAW57382,EAW57383,EAW57384,EAW57385,AAA75235,AAA75236,AAA75237,AAA75238,AAA75239,AAA75240,AAC14448,AAC14449,AAC14450,AAC14451,AAA36205,BAD92600,BAG59767,ADP91490,ADP91491,ADP91492,ADP91493,ADP91334,ADP91335,ADP91336,ADP91337,ADP91338,ADP91339,ADP91340,ADP91341,ADP91342,ADP91343,ADP91344,ADP91345,ADP91393,ADP91346,ADP91394,ADP91395,ADP91347,ADP91348,ADP91349,ADP91350,ADP91351,ADP91352,ADP91353,ADP91354,ADP91355,ADP91356,ADP91357,ADP91358,ADP91359,ADP91360,ADP91361,ADP91362,ADP91363,ADP91364,ADP91365,ADP91366,ADP91367,ADP91368,ADP91369,ADP91370,ADP91371,ADP91372,ADP91373,ADP91374,ADP91375,ADP91376,ADP91377,ADP91378,ADP91379,ADP91380,ADP91381,ADP91382,ADP91383,ADP91384,ADP91385,ADP91386,ADP91387,ADP91388,ADP91389,ADP91390,ADP91391,ADP91392,ADP91396,ADP91397,ADP91398,ADP91399,ADP91400,ADP91401,ADP91402,ADP91403,ADP91483,ADP91404,ADP91405,ADP91406,ADP91407,ADP91408,ADP91409,ADP91410,ADP91411,ADP91412,ADP91413,ADP91414,ADP91415,ADP91416,ADP91417,ADP91418,ADP91419,ADP91420,ADP91421,ADP91422,ADP91423,ADP91424,ADP91425,ADP91426,ADP91427,ADP91428,ADP91429,ADP91430,ADP91431,ADP91432,ADP91484,ADP91485,ADP91433,ADP91434,ADP91435,ADP91436,ADP91437,ADP91438,ADP91439,ADP91440,ADP91486,ADP91487,ADP91488,ADP91441,ADP91442,ADP91443,ADP91444,ADP91445,ADP91446,ADP91447,ADP91448,ADP91449,ADP91450,ADP91451,ADP91452,ADP91453,ADP91454,ADP91455,ADP91456,ADP91457,ADP91458,ADP91459,ADP91460,ADP91461,ADP91462,ADP91463,ADP91464,ADP91465,ADP91466,ADP91467,ADP91468,ADP91469,ADP91470,ADP91471,ADP91472,ADP91473,ADP91474,ADP91475,ADP91476,ADP91477,ADP91478,ADP91479,ADP91480,ADP91481,ADP91482,ADP91489 Hs.631596 DM|DM1|DM1PK|DMK|MDPK|MT-PK DM protein kinase|DM-kinase|myotonic dystrophy associated protein kinase|myotonic dystrophy protein kinase|myotonin protein kinase A|myotonin-protein kinase|thymopoietin homolog protein-coding 732173 DMRT1 doublesex and mab-3 related transcription factor 1 This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq] 1580863 10332030,16617334,15489334,15164053,12477932,12434333,11329013,11252745,11040213,10999792,10857744,10604464,9490411,20007774,20379614,20543847,20596660 1761 CH471071,AF130728,AJ276801,AK310336,AK313594,AL162131,AY442914,AY442915,BC040847,BG202785,AL136365,NM_021951,NG_009221 CAB99335,EAW58820,AAD40474,CAB82851,BAG36360,CAB82427,AAR89619,AAR89620,AAH40847,Q6T1H8,Q6T1H9,Q9Y5R6,ABZ91997,NP_068770 Hs.98586 DMT1 DM domain expressed in testis 1|DM domain expressed in testis protein 1|doublesex- and mab-3-related transcription factor 1 protein-coding 1319169 DMRT2 doublesex and mab-3 related transcription factor 2 1580863 10332030,12477932,10857744,10729224,15342556,18821565 10655 AF284222,AF284223,AF284224,AF284225,AK290794,BC030204,BC136493,BX107686,BX647565,Y19052,NM_006557,NM_181872,NM_001130865,AL358976,CH471071,AF130729,AF284221,AA771859,BP274385,NG_017051 AAF86289,AAF86290,AAF86291,AAF86292,AAF86293,AAF86294,AAF86295,BAF83483,AAH30204,AAI36494,CAI46061,CAB59891,Q5HYK2,Q9NPG6,Q9NQR6,Q9Y5R5,NP_006548,NP_870987,NP_001124337,CAH70588,CAH70589,EAW58816,EAW58817,EAW58818,AAD40475 Hs.59506 DSXL-2|OTTHUMP00000020964|OTTHUMP00000020966|OTTHUMP00000020967|doublesex- and mab-3-related transcription factor 2|doublesex-like 2 protein|terra-like protein protein-coding 1314434 DMRT3 doublesex and mab-3 related transcription factor 3 1580863 15489334,15164053,12477932,11863363,11543627,10729223,20596660 58524 NM_021240,AF193872,AL136365,CH471071,AF193873,AF217741,AJ301581,BC113584,BC117245 NP_067063,AAF78891,CAB99336,CAH70546,EAW58819,AAF78892,AAF72594,CAC37947,AAI13585,AAI17246,Q5W0Z5,Q9NQL9,Q9NRJ9,Q9NRR0 Hs.189174,Hs.672740 DMRTA3|MGC142144 DMRT-like family A3|doublesex- and mab-3-related transcription factor 3|testis-specific protein protein-coding 1320325 DMRTA1 DMRT-like family A1 15164053,14702039,12477932,11863363 63951 NM_022160,AL161730,CH471071,AJ290954,AK096011,AK130018,BC130435,BC130437 NP_071443,CAH73857,EAW58591,CAC16590,BAC04672,AAI30436,AAI30438,Q5VZB9 Hs.371976 DMO|MGC163307|MGC163309 doublesex- and mab-3-related transcription factor A1 protein-coding 1343593 DMRTA2 DMRT-like family A2 1580863 11863363,8889548,12477932 63950 NM_032110,AL049637,AI492131,AJ301580,BC136282,BC143800,BU727085 NP_115486,CAC37946,AAI36283,AAI43801,Q96SC8 Hs.334481 OTTHUMP00000212960|doublesex- and mab-3-related transcription factor 5|doublesex- and mab-3-related transcription factor A2 protein-coding 1349847 DMRTB1 DMRT-like family B with proline-rich C-terminal, 1 1580863 20339536,16713569,16189514,14702039,12477932,11863363 63948 NM_033067,AL365445,CH471059,AJ291671,AK057273,AK302085,BC029566,CR595262,HC006928,HC044505 NP_149056,CAI22836,EAX06735,EAX06736,CAC40654,BAB71407,BAG63472,AAH29566,Q96MA1,CBH19269,CBH30582 Hs.131654 doublesex- and mab-3-related transcription factor B1 protein-coding 1346508 DMRTC1 DMRT-like family C1 15772651,15489334,12477932,11863363,16712791 63947 NM_033053,AL353999,CH471213,AJ291670,AV753283,AW205069,BC029799,BC047596,BI755761,CB121638 NP_149042,EAW71829,EAW71830,EAW71831,CAC40653,AAH47596,Q5HYR2,AAI60151 Hs.558685 DMRTC1B OTTHUMP00000023557|doublesex- and mab-3-related transcription factor C1|doublesex-mab-3 protein-coding 2301775 DMRTC1B DMRT-like family C1B 11863363,15489334,15772651,12477932 728656 NM_001080851,BX293538,BX295541,CH471213,AJ291670,BC029799,BC047596 NP_001074320,Q5HYR2,CAI41258,EAW71832,CAC40653,CAI41255,CAI41256,AAH47596 Hs.558685,Hs.712728 DMRTC1 OTTHUMP00000023551|OTTHUMP00000023553|OTTHUMP00000195133|doublesex- and mab-3-related transcription factor C1|doublesex-mab-3-like protein-coding 1345316 DMRTC2 DMRT-like family C2 1580863 15489334,14702039,12477932,11863363,16344560,20211142 63946 NM_001040283,AC010616,CH471126,AJ291669,AK057404,AK301822,BC029202,BC039266,DB026313,HC006930,HC044507 NP_001035373,EAW57068,EAW57069,EAW57070,CAC40652,BAB71473,BAG63268,AAH29202,AAH39266,Q8IXT2,ABZ92201,CBH19270,CBH30583 Hs.350507 doublesex- and mab-3-related transcription factor C2 protein-coding 736177 DMTF1 cyclin D binding myb-like transcription factor 1 This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 727758,1580863 10095122,18598225,18559489,17972942,17936562,17237816,17207965,16344560,15010895,14702039,12917399,12477932,9847074,9110174,8619474,8887674,15231748,20351715,18029348 727758 9988 NR_024550,NM_001142327,NM_001142326,NM_021145,AC005076,CH236949,CH471091,AA258783,AB209230,AF052102,AF084530,AF202144,AF202145,AK002073,AK057917,AK095828,AK123259,AK126664,AK295144,AK296211,AK314622,BC007418,BC007447,BC029370,BC070064,DB061156,DB069894,DC339431,EL736930,NR_024549 NP_001135799,NP_001135798,NP_066968,AAD43181,EAW76962,EAW76963,EAW76964,EAW76965,BAD92467,AAC33480,AAG35613,AAG35614,BAG51010,BAG53884,BAG54353,BAG58163,BAG58937,BAG37188,AAH07418,AAH07447,AAH29370,AAH70064,Q9Y222 Hs.196129 DMP1|DMTF|FLJ25188|FLJ41265|FLJ76054|hDMP1 OTTHUMP00000205131|OTTHUMP00000205282|cyclin D-binding Myb-like protein 1|cyclin-D-binding Myb-like transcription factor 1|cyclin-D-interacting Myb-like protein 1|hDMTF1 protein-coding 1346083 DMWD dystrophia myotonica, WD repeat containing 1580863 15302935,15057824,14526185,12477932,11592825,11527424,10400997,9872056,8889548,8499920,7905855,7633444,1302022,16169070,19615732 1762 NM_004943,AC011530,CH471126,L08835,AK309497,BC019266,BC041034,BG106514,BM922103,BQ189202,BT006798,BX283745,CD106470,CR595534,L19267 NP_004934,EAW57386,EAW57387,AAC14447,AAH19266,AAP35444,AAA35767,Q09019,Q8WUW6,AAI56312 Hs.515474 D19S593E|DMR-N9|DMRN9|gene59 dystrophia myotonica WD repeat-containing protein|dystrophia myotonica-containing WD repeat motif protein|dystrophia myotonica-containing wd repeat motif|protein 59 protein-coding 1317027 DMXL1 Dmx-like 1 The protein encoded by this gene is a member of a superfamily of WD repeat proteins. The function of this protein is not yet determined; however, other related family members perform functions involved in regulatory processes. [provided by RefSeq] 1580863 10708522,14702039,12477932 1657 BC144537,NM_005509,AC027320,AC118465,CH471086,AJ005821,AK126726,BC028004,BC150616,BC171784,BX649064 AAI44538,NP_005500,EAW48916,EAW48917,EAW48918,CAA06718,AAH28004,AAI50617,Q05C95,Q9Y485 Hs.181042 DKFZp779O1239|FLJ44772 X-like 1 protein|dmX-like protein 1 protein-coding 1347338 DMXL2 Dmx-like 2 1580863 11809763,19023099,17975119,16344560,15144186,12477932,12168954,10048485,12786944,20810660 23312 NM_015263,AC020892,AC066613,CH471082,AA629921,AB020663,AF389880,AK000156,AK123284,AK129764,BC016032,BC022050,BC035883,BC140781,BC144539,BX491117,CR622203,DA484900,DB359904,NG_017155,NM_001174116,NM_001174117 NP_056078,EAW77420,EAW77421,EAW77422,EAW77423,EAW77424,BAA74879,AAL93215,AAH22050,AAI40782,AAI44540,Q6ZP26,Q8TDJ6,Q8WTV7,NP_001167587,NP_001167588 Hs.511386 FLJ26672|KIAA0856|RC3 dmX-like protein 2|rabconnectin-3 protein-coding 1315606 DNA2 DNA replication helicase 2 homolog (yeast) 19487465,20019387,20131965,20379614,11473323,18995831,18593712,17032657,16595800,16595799,15489334,15164054,12477932,8938459,7788527 1763 AK307939,AK308333,AK308358,BC017003,BC028188,BC041115,NM_001080449,AL136233,BC053574,BC063664,BC073945,BC111740,CR606021,D42046,DC404138 AAH41115,AAH28188,NP_001073918,CAI17237,CAI17238,AAH53574,AAH63664,AAI11741,BAA07647,P51530,Q5TC50,Q8N346 Hs.532446 DNA2L|FLJ10063|KIAA0083|MGC133297 DNA replication ATP-dependent helicase-like homolog|DNA2 (DNA replication helicase, yeast, homolog)-like|DNA2 DNA replication helicase 2-like|DNA2-like helicase|OTTHUMP00000019702 protein-coding 1343402 DNAH1 dynein, axonemal, heavy chain 1 1298890 9373155,19286658,18492703,14702039,10718198,9256245,8812413,19529763 1298890 25981 NM_015512,AC092045,AJ132094,CH471055,U83571,AB037831,AB290163,AJ132083,AK023766,AK074130,AK125990,AL117428,AW016677,AY221994,DN831799,U61738,Z83804 NP_056327,CAB46445,EAW65215,EAW65216,EAW65217,EAW65218,EAW65219,AAB82761,BAA92648,BAG06717,CAA10556,BAB14671,BAB84956,BAC86379,CAB55917,AAO43053,AAC50702,CAB06058,Q9P2D7 Hs.655469 DNAHC1|HDHC7|HL-11|HL11|XLHSRF-1 DNAH1 variant protein|HSRF-1|axonemal beta dynein heavy chain 1|ciliary dynein heavy chain 1|dynein heavy chain 1, axonemal|dynein, axonemal, heavy polypeptide 1|heat shock regulated 1|heat shock regulated protein 1 protein-coding 733008 DNAH10 dynein, axonemal, heavy chain 10 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM] 15937072,14702039,12477932,11181995,11175280,19936222 196385 AB095937,AB290168,AI240003,AJ132089,AK091526,AK095581,AK125475,AK125796,AL046294,BC144575,NM_207437,AC079315,AC117503,CH471054,BC150622,DV080260,DV080370,DV080609,DV080705 BAC23113,BAG06722,CAA10562,BAC04579,BAC86173,BAC86296,AAI44576,NP_997320,EAW98437,AAI50623,Q8IVF4 Hs.622654 FLJ38262|FLJ43486|FLJ43808|KIAA2017 DNAH10 variant protein|axonemal beta dynein heavy chain 10|ciliary dynein heavy chain 10|dynein heavy chain 10, axonemal|dynein, axonemal, heavy polypeptide 10 protein-coding 4143988 DNAH10OS dynein, axonemal, heavy chain 10 opposite strand 19726446,19797681 642797 AC079315,AK127211,XR_041541,XR_041542,XR_041543 FLJ45278 dynein, axonemal, heavy chain 10 opposite strand|dynein, axonemal, heavy chain 10 opposite strand (non-protein coding) protein-coding 1348566 DNAH11 dynein, axonemal, heavy chain 11 This gene encodes a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq] 1580863,734893 19410201,20379614,19060911,18492703,18022865,15375157,15304525,14702039,12853948,12142464,10737800,9325061,9256245,21116278,20513915 734893 8701 NG_012886,AC004002,AC004595,AC005078,AC013481,AC073102,AC099653,AC102952,CH236948,CH471073,U83569,AI743846,AJ132087,NM_003777,AJ320497,AK054657,AK095018,AL529367,BF369731,BQ365981,CA424782 NP_003768,AAB96346,AAS07433,AAC78616,AAS07505,EAW93736,EAW93737,EAW93738,EAW93739,AAB82759,CAA10560,CAC60121,BAB70785,O15433,O43352,O95705,Q75KM7,Q75MY1,Q96DT5,Q96NT7 Hs.520245,Hs.725198 CILD7|DNAHBL|DNAHC11|DNHBL|DPL11|FLJ30095|FLJ37699 OTTHUMP00000201866|axonemal beta dynein heavy chain 11|ciliary dynein heavy chain 11|dynein heavy chain 11, axonemal|dynein, axonemal, heavy polypeptide 11|dynein, ciliary, heavy chain 11|dynein, heavy chain beta-like protein-coding 1603257 DNAH12 dynein, axonemal, heavy chain 12 9373155,17283181,17173037,9256245,8812413,8666668,14702039,11181995,16641997,17287340,19174780,19422935,20379614,20886065 201625 U53532,U83573,U61739,Z83802,NM_178504,AC093928,AC121250,CH471055,AK097746,AK128592,AC092418,AC231288,AC232304,AK126276,CD684932,CD708076,NM_198564 AAB09729,AAB82762,AAC50703,CAB06056,Q92864,NP_848599,EAW65339,EAW65340,BAC05158,BAC87517,Q6ZR08,BAC86512,EAW65341,NP_940966 Hs.201378 DHC3|DLP12|DNAH12|DNAH12L|DNAH7L|DNAHC12|DNAHC3|DNHD2|FLJ40427|FLJ44290|HDHC3|HL-19|HL19|hdhc3 OTTHUMP00000213134|axonemal beta dynein heavy chain 12|axonemal dynein heavy chain isotype3|ciliary dynein heavy chain 12|dynein heavy chain 12, axonemal|dynein heavy chain domain-containing protein 2|dynein, axonemal, heavy chain 12|dynein, axonemal, heavy chain 12-like|dynein, axonemal, heavy chain 7-like|dynein, axonemal, heavy polypeptide 12|dynein, heavy chain-5 protein-coding 1604455 DNAH12L dynein, axonemal, heavy chain 12-like 17287340 375347 NM_198564,AC092418,CH471055,AK126276,CD684932 NP_940966,EAW65341,BAC86512,Q6ZTR8 Hs.669912 DNAH7L|FLJ44290 protein-coding 1344286 DNAH13 dynein, axonemal, heavy polypeptide 13 1771 1350731 DNAH14 dynein, axonemal, heavy chain 14 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM] 1298890,1580863 15146197,12477932,11181995,8812413 1298890 127602 NM_001373,NM_001145154,NM_144989,AC092811,AC093560,AL162738,AL357912,AL590547,AL596134,AL645769,CH471098,AI076810,BC017415,BC042869,BC119716,BC119717,CN257875,CR936804,DB443048,U61741 NP_001364,NP_001138626,NP_659426,CAI95641,CAI95642,CAH73045,CAH73046,EAW69734,EAW69735,EAW69736,EAW69737,EAW69738,EAW69739,EAW69740,AAI19717,AAI19718,AAC50705,Q0VDD8,Q92866 Hs.133977 C1orf67|DKFZp781B1548|Dnahc14|HL-18|HL18|MGC149665|MGC149666|MGC27277|MGC51214 OTTHUMP00000035885|OTTHUMP00000035888|OTTHUMP00000035889|OTTHUMP00000035890|axonemal beta dynein heavy chain 14|ciliary dynein heavy chain 14|dynein heavy chain 14, axonemal|dynein, axonemal, heavy polypeptide 14 protein-coding 1345551 DNAH17 dynein, axonemal, heavy chain 17 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM] 1580863 9373155,19240061,15822942,14702039,12477932,11181995,9545504 8632 NM_173628,AC016182,AC061992,CH471099,AB290170,AJ000522,AK097776,AK126059,AK128065,AL122077,AL832652,BC105107,BC112284,CR620279 NP_775899,EAW89527,EAW89528,BAG06724,CAA04165,BAC05170,CAB59252,Q9UFH2 Hs.375975 DNAHL1|DNEL2|FLJ40457|MGC132767|MGC138489 OTTHUMP00000197862|axonemal beta dynein heavy chain 17|axonemal dynein heavy chain|axonemal dynein heavy chain-like protein 1|ciliary dynein heavy chain 17|ciliary dynein heavy chain-like protein 1|dynein heavy chain 17, axonemal|dynein light chain 2, axonemal|dynein, axonemal, heavy chain like 1|dynein, axonemal, heavy like 1|dynein, axonemal, heavy polypeptide 17 protein-coding 1343596 DNAH2 dynein, axonemal, heavy chain 2 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM] 1580863 12477932,12107411,10819331,9256245,19430480 146754 NM_020877,AC025335,AC087388,CH471108,U83570,AB040936,AK128517,AK292607,BC034225,BQ638815,BX648163 NP_065928,EAW90129,EAW90130,EAW90131,AAB82760,BAA96027,BAF85296,AAH34225,Q9P225 Hs.367649 DNAHC2|DNHD3|FLJ46675|KIAA1503 axonemal beta dynein heavy chain 2|ciliary dynein heavy chain 2|dynein heavy chain 2, axonemal|dynein heavy chain domain 3|dynein heavy chain domain-containing protein 3|dynein, axonemal, heavy chain-2|dynein, axonemal, heavy polypeptide 2 protein-coding 1314138 DNAH3 dynein, axonemal, heavy chain 3 727749 9256245,14702039,12477932,11175280,10493829,9556328,9373155,20379614 727749 55567 NM_017539,AC002394,AC008551,AC105410,AJ132092,CH471228,U83574,AF494040,AJ132085,AK056509,AK125907,AK125952,AK310973,AL096732,BC019878,Z83805,AK303958 NP_060009,AAC05809,CAA10565,EAW66850,EAW66851,EAW66852,EAW66853,AAB82763,AAM12861,CAA10558,BAE46616,CAB46377,AAH19878,CAB06059,Q8TD57,BAG64883 Hs.526500 DKFZp434N074|DLP3|DNAHC3B|FLJ31947|FLJ43919|FLJ43964|Hsadhc3 axonemal beta dynein heavy chain 3|axonemal dynein, heavy chain|ciliary dynein heavy chain 3|dnahc3-b|dynein heavy chain 3, axonemal|dynein, axonemal, heavy polypeptide 3 protein-coding 1348406 DNAH5 dynein, axonemal, heavy chain 5 1580863,1601080 8812413,19410201,19357118,19300264,18492703,17903303,16627867,16492982,15845866,14702039,11788826,11062149,10997877,9373155,9256245,8889548,6221120,20978832 1601080 1767 NM_001369,AC016546,AC016576,AC026811,CH471102,AB046823,AB290164,AK026756,AK055138,AK128600,AY045575,AY049075,AY050643,CA314998,U61735,NG_013081 NP_001360,EAX08050,BAB13429,BAG06718,BAB15543,AAK92217,AAL06603,AAL14192,AAC50699,Q8NEX4,Q8TE73 Hs.212360 CILD3|DNAHC5|FLJ46759|HL1|KIAA1603|KTGNR|PCD axonemal beta dynein heavy chain 5|ciliary dynein heavy chain 5|dynein heavy chain 5, axonemal|dynein, axonemal, heavy polypeptide 5 protein-coding 1347757 DNAH6 dynein, axonemal, heavy chain 6 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH6 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM] 1298890 15937072,14702039,12477932,11214970,11181995,11175280,8812413 1298890 1768 AC010087,AC096770,AC098975,AC109827,CH471053,AB051484,AB290165,AJ132086,AK027182,AK094676,AL512706,BC015442,BC104884,NM_001370,BC113424,BC117259,BC143365,BC143666,U61736 NP_001361,AAX93108,AAY24108,AAX93115,EAW99556,EAW99557,BAB21788,BAG06719,CAA10559,BAB15685,BAC04400,CAC21651,AAH15442,AAI04885,AAI13425,AAI17260,AAI43667,AAC50700,Q9C0G6 Hs.249972 DKFZp667K087|DNHL1|Dnahc6|FLJ23529|FLJ37357|HL-2|HL2|KIAA1697|MGC132544|MGC141984|MGC177197 OTTHUMP00000202725|axonemal beta dynein heavy chain 6|ciliary dynein heavy chain 6|dynein heavy chain 6, axonemal|dynein heavy chain-like 1|dynein, axonemal, heavy polypeptide 6 protein-coding 1317528 DNAH7 dynein, axonemal, heavy chain 7 DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM] 727749 9373155,11877439,15342556,14702039,12477932,10231032,20379614 727749 56171 BC029567,BP199399,BX117789,CR749651,Z83801,AK094515,NM_018897,AC013274,AC068919,AC104600,AC114760,AJ132093,CH471063,AB023161,AF327442,AJ132084 BAC04372,AAH29567,CAH18445,CAB06055,Q8WXX0,NP_061720,AAY14776,AAY14995,AAY24051,AAY14981,CAB46444,EAW70120,EAW70121,BAA76788,AAL37427,CAA10557 Hs.97403 DKFZp686C09101|FLJ37196|KIAA0944|MGC39580 axonemal beta dynein heavy chain 7|axonemal dynein heavy chain 7|ciliary dynein heavy chain 7|dynein heavy chain 7, axonemal|dynein heavy chain-like protein 2|dynein, axonemal, heavy polypeptide 7|hDHC2 protein-coding 1348996 DNAH8 dynein, axonemal, heavy chain 8 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Dynein heavy chains (DHCs) are responsible for force production and ATPase activity and contain a highly conserved catalytic domain with 4 P-loop consensus motifs involved in nucleotide binding. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. Axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH8 is an outer arm axonemal DHC (Chapelin et al., 1997 [PubMed 9256245]; Neesen et al., 1997 [PubMed 9373155]).[supplied by OMIM] 727749 9373155,18649358,17081983,14702039,14574404,12297094,9256245,8812413,19536151 727749 1769 AL034345,AL035555,AL035690,AL353700,AL391415,CH471081,AF356519,AF527621,AF527622,NM_001371,AJ132091,AK093434,AK093653,AK098716,AL042262,AW503176,Z83806 AAN34633,NP_001362,CAI42433,CAI42434,CAI42435,CAI42436,CAI19819,CAI19821,CAI19822,CAI19769,CAI19770,CAI20292,CAI20293,CAI20294,CAI21587,CAI21588,EAX03966,EAX03967,AAK60620,AAN34632,CAA10564,CAB06060,Q8IU65,Q96JB1 Hs.520106 ATPase|FLJ25850|FLJ36115|FLJ36334|hdhc9 OTTHUMP00000017872|OTTHUMP00000017873|axonemal beta dynein heavy chain 8|ciliary dynein heavy chain 8|dynein heavy chain 8, axonemal|dynein, axonemal, heavy polypeptide 8 protein-coding 1313302 DNAH9 dynein, axonemal, heavy chain 9 This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq] 20379614,15845866,8812413,8703119,11104725,14702039,12477932,11839535,11247663,11175280,10393427,9205841 1770 AK302009,NM_004662,AC005209,AC005410,AC005701,CH471108,AB002355,AB290158,AF015265,AF257737,AJ132088,AJ404468,AK055990,NM_001372,AK310137,BC128261,BC128421,BC153883,U61740,X99947 NP_001363,NP_004653,EAW89978,EAW89979,EAW89980,EAW89981,EAW89982,EAW89983,BAA21573,BAG06712,AAC27542,AAF69004,CAA10561,CAB94756,BAH13606,AAI28262,AAI28422,AAI53884,AAC50704,CAA68207,O14741,Q92865,Q99499,Q9NYC9 Hs.567259 DNAH17L|DNEL1|DYH9|Dnahc9|HL-20|HL20|KIAA0357 DNAH9 variant protein|OTTHUMP00000160926|axonemal beta dynein heavy chain 9|ciliary dynein heavy chain 9|dynein heavy chain 9, axonemal|dynein, axonemal, heavy polypeptide 17-like|dynein, axonemal, heavy polypeptide 9 protein-coding 1604960 DNAHL1 dynein, axonemal, heavy chain like 1 14702039,12477932 284176 NM_173628,AC016182,AK097776,BC105107,BC112284 NP_775899,BAC05170,AAI05108,AAI12285,Q2M2Y1,Q8N7Q7 Hs.375975 FLJ40457|MGC138489 protein-coding 1346895 DNAI1 dynein, axonemal, intermediate chain 1 The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. This gene encodes an intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia (PCD) and Kartagener syndrome. [provided by RefSeq] 1601083,1580863 10577904,19300264,18492703,18434704,16858015,15489334,15164053,14702039,12509440,12477932,11893720,11889140,11713099,11231901,1601418,20379614 1601083 27019 NM_012144,NG_008127,AF190496,AL160270,CH471071,AF091619,AK057687,AK290696,AK302186,AK303937,AK314639,AL117535,BC030583,BM013886 NP_036276,AAF19816,CAI13154,CAI13155,CAI13157,EAW58453,AAF18570,BAF83385,BAG63551,BAG64865,BAG37201,AAH30583,Q5T8G8,Q9UI46,ABM92226,ABW03682 Hs.112667 CILD1|ICS|ICS1|MGC26204|PCD axonemal dynein intermediate chain 1|dynein intermediate chain 1, axonemal|dynein intermediate chain DNAI1|dynein, axonemal, intermediate polypeptide 1|immotile cilia syndrome 1 protein-coding 1347605 DNAI2 dynein, axonemal, intermediate chain 2 1580863 11153919,18950741,21130836,12477932,20379614 64446 AC103809,NM_023036,AF253088,AF253089,AF253090,AF253091,AF253092,AF253093,AF253094,AF253095,AF253096,AF253097,AF260782,CH471099,AF250288,AJ295276,AL137526,BC033013,BC039582,BG723530,BI462861,DB514781,BI464166,NG_016865,NM_001172810 NP_075462,AAG38000,EAW89144,EAW89145,EAW89146,EAW89147,EAW89148,EAW89149,AAG38489,CAC17464,CAB70790,AAH33013,AAH39582,Q4G115,Q9GZS0,NP_001166281,ADR82641 Hs.147472 CILD9 dynein intermediate chain 2, axonemal|dynein, axonemal, intermediate polypeptide 2 protein-coding 734413 DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 1580863 20800603,15082773,8334160,18029348,16236267,15661747,15635413,15595953,15592455,15489334,14667819,12974469,12477932,12150907,11809754,11796717,11147971,10942430,10816573,10075921,9915854,9839446,9192730,8334161,16169070,17353931,15231747,16225871,16458196,18684711,19940115,20363747 3301 NM_001539,AL162590,CH471071,AJ277242,AK289623,AY186741,BC008182,BI462555,BT007292,CR594165,CR606558,CR611754,CR611988,CR617243,CR625211,D13388,L08069,AK298725 NP_001530,CAI15553,EAW58524,EAW58525,EAW58526,EAW58527,CAB93148,BAF82312,AAO31694,AAH08182,AAP35956,BAA02656,AAC37517,P31689,Q5T7Q0,Q86TL9,Q9NXZ8,ABM82017,ABW03357,BAH12856 Hs.445203 DJ-2|DjA1|HDJ2|HSDJ|HSJ2|HSPF4|NEDD7|hDJ-2 HSJ-2|dnaJ homolog subfamily A member 1|dnaJ protein homolog 2|heat shock 40 kDa protein 4|heat shock protein J2|heat shock protein, DNAJ-like 2|human DnaJ protein 2|neural precursor cell expressed, developmentally down-regulated 7 protein-coding 4889716 DNAJA1P1 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 1 100129308 AL354807,NG_011453 pseudo 4889648 DNAJA1P2 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 2 100131207 AC092584,NG_021529 pseudo 4889692 DNAJA1P3 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 3 644588 AC004081,NG_022628 pseudo 4889687 DNAJA1P4 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 4 728614 AL021327,NG_022322 pseudo 4889634 DNAJA1P5 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 5 100421469 AL356280,NG_027122 pseudo 4889633 DNAJA1P6 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 6 100421542 AC004019,NG_027411 pseudo 732533 DNAJA2 DnaJ (Hsp40) homolog, subfamily A, member 2 The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq] 1580863,2326084,4892102 9383053,17081983,16344560,15489334,15308774,12477932,11147971,10816573,10651811,10508479,9710638,8889548,18595009,18684711,19940115,17207965 2326084,4892102 10294 NM_005880,AC018845,CH471092,AF088046,AJ001309,AK313031,BC013044,BC015809,BU677823,CR600360,CR616567,CR621166,CR622758,DB097731,Y13350 NP_005871,EAW82693,EAW82694,CAA04669,BAG35864,AAH13044,AAH15809,CAA73791,O60884,Q9P1B8,ADQ32759 Hs.368078 CPR3|DJ3|DJA2|DNAJ|DNJ3|HIRIP4|PRO3015|RDJ2 HIRA interacting protein 4|HIRA-interacting protein 4|cell cycle progression 3 protein|cell cycle progression restoration gene 3 protein|dnaJ homolog subfamily A member 2|renal carcinoma antigen NY-REN-14 protein-coding 1315195 DNAJA3 DnaJ (Hsp40) homolog, subfamily A, member 3 DNAJA3 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM] 1580863 15589840,11719219,17588722,18097612,16713569,16531398,16518412,16344560,16327803,16204048,16189514,15879105,15805242,15753086,15601829,15546961,15489334,15231748,15156195,14993262,14702039,12879007,12477932,12118383,12097419,11927590,11707338,11679576,11147971,11116152,11005857,10411904,9683573,9373149,8125298,14578343,20565727,15520177,19038220,19900451,20800603,20877624 9093 NM_005147,NM_001135110,AC012676,CH471112,AB209923,AF061749,AF244136,AF411044,AK001333,AK127660,AK223105,AK295391,AK314218,BC007225,BC011855,BC012343,BC014062,BC020248,BC030145,BC032100,DA172592 NP_005138,NP_001128582,EAW85303,EAW85304,EAW85305,BAD93160,AAC29066,AAF66245,AAL35323,BAG50893,BAD96825,BAG58345,BAG36892,AAH07225,AAH11855,AAH12343,AAH14062,AAH20248,AAH30145,AAH32100,Q53G26,Q59E88,Q96EY1 Hs.688238 FLJ45758|TID1|hTid-1 dnaJ homolog subfamily A member 3, mitochondrial|dnaJ protein Tid-1|hepatocellular carcinoma-associated antigen 57|tumorous imaginal discs homolog|tumorous imaginal discs protein Tid56 homolog protein-coding 1320703 DNAJA4 DnaJ (Hsp40) homolog, subfamily A, member 4 16344560,15489334,14702039,12477932,11147971 55466 NM_001130182,NM_001130183,AC090607,CH471136,AF116663,AF173388,AK025069,AK090898,AK096616,AK098079,AL133096,AL133431,AL133432,AL133433,AL133434,BC021720,BC031044,BX648710,CR599385,DA561365,DB047940,NM_018602 NP_061072,NP_001123654,NP_001123655,EAW99176,EAW99177,EAW99178,EAW99179,AAF71083,AAQ13629,BAC03540,BAC04828,BAC05229,CAH10713,AAH21720,AAH31044,CAH10558,Q69YX3,Q7Z4D5,Q8N2A9,Q8N5Z4,Q8WW22,Q9P1H1 Hs.513053 MST104|MSTP104|PRO1472 dnaJ homolog subfamily A member 4 protein-coding 1312336 DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 1580863 8975727,18977241,18211704,18032501,17601350,16842747,16179353,15489334,15362566,15194794,15075330,14752510,14743183,14702039,14503850,12477932,11821413,11809754,11500375,11457725,20735358,1586970,10075921,14499622,11147971,10816573,10593983,10330192,9920933,9727490,9545528,9499401,8764402,8670798,8250930,1754405,12150907,16919237,18620420,19254810,19615732,19901540,20026329,20801936,20809635,20084477,20516149,20562859 3337 NM_006145,AC012318,CH471106,D85429,AK092989,AK301817,AK312624,BC002352,BC013157,BC019827,CR536485,CR541677,CR601481,CR602469,CR602555,CR602787,CR605869,CR615749,CR620425,D49547,X62421 NP_006136,EAW84432,EAW84433,BAA12819,BAG63264,BAG35510,AAH02352,AAH19827,CAG38724,CAG46478,BAA08495,CAA44287,P25685,Q6FHS4,Q6FI51 Hs.515210 HSPF1|Hdj1|Hsp40|RSPH16B|Sis1 DnaJ (Hsp40) homolog, subfmaily B, member 1|dnaJ homolog subfamily B member 1|dnaJ protein homolog 1|hDj-1|heat shock 40 kDa protein 1|heat shock 40kD protein 1|heat shock protein 40|human DnaJ protein 1|radial spoke 16 homolog B protein-coding 1316536 DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 DNAJB11 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a C-terminal cysteine-rich region (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 19913121,20628086,16236267,16169070,15544163,20418907,16130169,17976514,16303743,15525676,15489334,15195998,14702039,12975309,12477932,12475965,11584023,11147971,10827079,17353931,18029348,19748898,20335166 51726 NM_016306,AC068631,CH471052,CS051241,AB028859,AF228505,AF277317,AJ250137,AK075300,AK075430,AK124289,AK301292,AY359043,BC001144,BC046500,BT007063,CR457096,CR595918,CR599525,CR599807,CR602418,CR609150,CR610081,CR613565,CR622358,CR623667 NP_057390,EAW78190,CAI72116,BAA88307,AAF61711,AAK69110,CAB65118,BAC11533,BAC11617,BAG54025,BAG62850,AAQ89402,AAH01144,AAP35712,CAG33377,Q9UBS4,ABM92218,ABM84795 Hs.317192 ABBP-2|ABBP2|DJ9|EDJ|ERdj3|ERj3|HEDJ|PRO1080|UNQ537|hDj9 APOBEC1-binding protein 2|ER-associated DNAJ protein 3|ER-associated Hsp40 co-chaperone|ERj3p|OTTHUMP00000210171|PWP1-interacting protein 4|dnaJ homolog subfamily B member 11|dnaJ protein homolog 9|hDj-9|human DnaJ protein 9 protein-coding 1348292 DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 18029348,15489334,14702039,12477932,11147971,9373149,8125298,17207965 54788 NM_017626,AC091769,CH471083,AK000034,AK025942,AK027259,AK225051,AK302071,AL050381,AL833358,BC011812,BC064920,BI520000,NM_001002762,CR597632,CR606618,DC397260,BQ935010 NP_001002762,NP_060096,EAW54454,EAW54455,EAW54456,BAA90896,BAB15289,BAH13619,CAH56413,AAH11812,AAH64920,Q659G2,Q9NXW2,ADQ32612 Hs.500013 DJ10|DKFZp586B2023 dnaJ homolog subfamily B member 12 protein-coding 1603338 DNAJB13 DnaJ (Hsp40) related, subfamily B, member 13 DNAJA13 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see 608375.[supplied by OMIM] 12673577,14970903,14702039,20677014 374407 NM_153614,AP003717,CH471076,AF516185,AK058095,AK128589,AY138810,AY325766 NP_705842,EAW74920,EAW74921,AAP47195,AAN15929,AAQ17190,P59910,AAI41491,AAI53177 Hs.567888 FLJ46748|RSPH16A|TSARG5|TSARG6 1700014P03Rik|DnaJ (Hsp40) related, subfamily B, member 13|DnaJ-like protein|dnaJ homolog subfamily B member 13|radial spoke 16 homolog A|testis and spermatogenesis cell-related protein 6|testis spermatocyte apoptosis-related gene 6 protein|testis spermatogenesis apoptosis-related gene 3 protein|testis spermatogenesis apoptosis-related gene 6 protein|testis spermatogenesis apoptosis-related protein 6 protein-coding 1605332 DNAJB14 DnaJ (Hsp40) homolog, subfamily B, member 14 16344560,15815621,15489334,14702039,12975309,12477932 79982 NM_001031723,AC097460,CH471057,AK023700,AK024343,AL833076,AL833412,AY186740,AY358272,BC022248,BQ006309,BX537609,DA854416 NP_001026893,AAY41012,EAX06114,EAX06115,EAX06116,EAX06117,BAB14645,BAB14893,CAD89928,AAO31693,AAQ88639,AAH22248,CAD97796,Q8TBM8,ADR82647 Hs.577426 EGNR9427|FLJ14281|MGC22187|PRO34683 dnaJ homolog subfamily B member 14 protein-coding 1626575 DNAJB1P DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene 14503850,12957361,12835518,11916264,19661690,20026329 171221 NG_001318,AB055808,AC098872 DNAJB1P|HSP40|psiHSP40 pseudo 1318848 DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 1580863 1599432,18977241,18321953,17847007,17601350,16604191,15936278,15489334,15231748,14759258,12754272,12477932,12107410,11147971,10516435,8889548,14751250,20395441,17082820,9553041,17207965 3300 NM_001039550,AC114803,CH471063,X63368,AK289626,AK292761,AK293888,AK296297,AK312723,AL547521,BC011609,NM_006736,BC040494,BC047056,BF795662,BM689272,BT007088,BX420085,BX478051,CA392563,CR592079,CR592152,CR592153,CR599826,CR604012,CR605175,CR610861,CR610990,CR613430,CR618860,S37374,S37375 NP_006727,NP_001034639,AAY24037,EAW70722,EAW70723,CAA44968,CAA44969,BAF82315,BAF85450,BAG57277,BAG58998,BAG35597,AAH11609,AAH47056,AAP35751,AAA09035,AAA09034,P25686,Q53QD7,ACE87177,ACE86496,ACT64564,ACT64565,ADQ31626 Hs.77768 HSJ1|HSPF3 HSJ-1|OTTHUMP00000205874|OTTHUMP00000205877|OTTHUMP00000205878|dnaJ homolog subfamily B member 2|dnaJ protein homolog 1|heat shock 40 kDa protein 3|heat shock protein J1|heat shock protein, neuronal DNAJ-like 1 protein-coding 1602396 DNAJB3 DnaJ (Hsp40) homolog, subfamily B, member 3 16189514,15891074,12477932,17207965 414061 NM_001001394,NG_002601,AC114812,AY083665,BC017590,BC024013 NP_001001394,AAY24024,AAM08934,AAH17590,AAH24013,Q8WWF6,ADQ32790 Hs.725533 HCG3|MGC26879 HCG3|dnaJ homolog subfamily B member 3 protein-coding 1314092 DNAJB4 DnaJ (Hsp40) homolog, subfamily B, member 4 DNAJB4 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM] 1580863 9546042,16788156,16542645,15782117,15661747,15592455,15489334,12477932,11147971,11371506,18794131,20145123,20615403 11080 NM_007034,AC103591,AY669319,CH471059,U41290,AB209922,AK297985,AK313205,BC034721,CR604945,U40992 NP_008965,AAT70409,EAX06354,EAX06355,AAB07346,BAD93159,BAG60294,BAG36021,AAH34721,AAC14483,Q59E89,Q6DKZ0,Q9UDY4,ABM82080,ABM85259 Hs.13852 DNAJW|DjB4|HLJ1 DnaJ-like heat shock protein 40|HSP40 homolog|dnaJ homolog subfamily B member 4|heat shock 40 kDa protein 1 homolog|heat shock protein 40 homolog|human liver DnaJ-like protein protein-coding 1316654 DNAJB5 DnaJ (Hsp40) homolog, subfamily B, member 5 DNAJB5 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM] 1580863 10570961,14702039,12477932,11147971,7566098 25822 NM_012266,NM_001135005,AL355377,CH471071,AA351558,AF087870,AF088982,AK023253,AK299647,AK314671,AL536638,BI915181,BU845478,BX419166,NM_001135004 Q5T659,ABM83118,ABM86314,O75953,Q5T657,NP_001128476,NP_036398,NP_001128477,CAI13807,CAI13809,CAI13810,EAW58407,AAM10498,AAC35860,BAG51176,BAG61568 Hs.237506 Hsc40|KIAA1045 dnaJ homolog subfamily B member 5|heat shock cognate 40|heat shock protein Hsp40-2|heat shock protein Hsp40-3|heat shock protein cognate 40 protein-coding 1349519 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1580863 20308539,11896048,10954706,18373498,18328103,18184612,17081983,16381901,16260608,15489336,15489334,15342353,15182641,14702039,12974469,12853948,12690205,12477932,12069690,11230166,11147971,11076863,10319584,9373149,8125298,18029348,20522561,11256614,16919237,19002655,20159555,20372789 10049 AF060703,AF075601,AK055429,AK093837,AK124827,AK223601,AK291953,AK293025,AK297497,AK297796,AK297989,AK301152,AL136707,AL832124,BC000177,BC002446,BC018175,BC043270,BC110289,CR533498,CR595381,CR598045,CR599888,CR606288,CR609360,CR610847,CR612433,CR613849,CR619720,CR620355,CR625132,EU075177,NM_005494,NM_058246,AC006372,AC079306,CH236954,CH471149,AB014888,AB015798,AB015799,AB209859 AAF21257,AAD43194,BAD97321,BAF84642,BAF85714,BAG59911,BAG60135,BAG60297,BAG62743,CAB66642,AAH00177,AAH02446,AAH43270,CAG38529,ABU54861,O75190,Q49A72,Q75MP3,CAL37426,CAL37619,CAL38226,NP_005485,NP_490647,AAS07521,AAS07392,AAS07393,EAL23923,EAL23924,EAX04570,EAX04571,BAA32209,BAA88769,BAA88770,BAD93096 Hs.490745,Hs.593923 DJ4|DKFZp566D0824|DnaJ|FLJ42837|HHDJ1|HSJ-2|HSJ2|MGC1152|MGC117297|MRJ|MSJ-1 DnaJ-like 2 protein|OTTHUMP00000211816|OTTHUMP00000211817|OTTHUMP00000211818|OTTHUMP00000211824|OTTHUMP00000211826|dnaJ homolog subfamily B member 6|heat shock protein J2 protein-coding 1353448 DNAJB7 DnaJ (Hsp40) homolog, subfamily B, member 7 DNAJB7 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 737633 18029348,15489334,15461802,12477932,11147971,10591208 737633 150353 NM_145174,CH471095,Z98048,AF085232,BC112135,CR456468 NP_660157,EAW60401,CAI20493,AAL40391,AAI12136,CAG30354,Q7Z6W7,CAK54449,CAK54748 Hs.585042 DJ5|HSC3|MGC138340 dnaJ homolog subfamily B member 7|novel DnaJ domain protein protein-coding 1343992 DNAJB8 DnaJ (Hsp40) homolog, subfamily B, member 8 DNAJB8 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 20159555,15489334,12477932,11147971,17207965 165721 NM_153330,AC080005,CH471052,AK125946,AK126068,BC029521,BC050288,HC006932,HC044703 NP_699161,EAW79320,BAG54269,BAG54285,AAH29521,AAH50288,Q8NHS0,ADQ32829,CBH19271,CBH30681 Hs.518241 DJ6|MGC33884 DnaJ homolog, subfamily B, member 8|OTTHUMP00000216244|dnaJ homolog subfamily B member 8 protein-coding 737476 DNAJB9 DnaJ (Hsp40) homolog, subfamily B, member 9 1580863 19815549,12356756,12581160,14559994,15882996,16205636,16344560,17132139,17936241,18431251,19123479,20054003,20335527,20554776,11256614,18400946,16169070,15489334,15456888,14702039,14516790,12975309,12690205,12477932,11836248,11525638,11230166,11147971,11042152,9533036 4189 DA202575,NM_012328,AC005058,AC005487,CH236947,CH471070,CQ834856,AB026908,AF083247,AF093824,AK092204,AL080081,AY359045,BC028912,CR533475,CR613647,CR618176,CR624093 NP_036460,AAD08848,EAL24382,EAW83438,EAW83439,EAW83440,EAW83441,CAH05643,BAA84703,AAD39845,AAP97220,BAG52496,CAB45701,AAQ89404,AAH28912,CAG38506,O95037,Q6FIF1,Q9UBS3,ABM85902,ABW03749,ACE87247,ACE86565 Hs.6790 DKFZp564F1862|ERdj4|MDG-1|MDG1|MST049|MSTP049 dnaJ homolog subfamily B member 9|dnaj homolog, subfamily b, member 9|endoplasmic reticulum DnaJ homolog 4|mdg-1|microvascular endothelial differentiation gene 1 protein protein-coding 1318035 DNAJC1 DnaJ (Hsp40) homolog, subfamily C, member 1 1580863 14668352,16271702,15489334,15164054,14702039,14667819,12477932,10777498,16385451,18029348 64215 AY225122,AL359697,AL445431,CH471072,EF444973,AF427142,AK026062,AK027263,AK308369,NM_022365,BC014436,BC030955,BC110894,BC139752,CR613772 NP_071760,CAH73412,CAI13666,CAI13667,CAI13668,EAW86160,ACA05976,ACA05977,ACA05978,ACA05979,AAL24046,BAB15343,BAB55004,AAP50497,AAI10895,AAI39753,Q5T1X2,Q5T1X3,Q96KC8,Q96NY3 Hs.499000 DNAJL1|ERdj1|HTJ1|MGC131954|MTJ1 DnaJ-like protein|dnaJ homolog subfamily C member 1|dnaJ protein homolog MTJ1 protein-coding 1317224 DNAJC10 DnaJ (Hsp40) homolog, subfamily C, member 10 1580863 19122239,18653895,18400946,16303743,16189514,15815621,15489334,14702039,14587667,12975309,12477932,12446677,12411443,19815549 54431 NM_018981,AC073951,AC105396,AY010234,CH471058,AF038503,AF314529,AF490904,AK027450,AK027647,AK027696,AK027701,AK074905,AK298138,AL137648,AL832267,AL832632,AL832646,AY089971,AY358577,BC034713,BC070034,BC107425,BC117299,BC126168,CR622187 NP_061854,AAX88931,AAY24240,AAG32626,EAX10959,EAX10960,EAX10961,EAX10962,EAX10963,EAX10964,AAN73271,AAQ14565,AAM09527,BAB55121,BAB55263,BAB55304,BAG51367,BAC11281,BAG60416,CAB70858,CAD89982,AAM09954,AAQ88940,AAH34713,AAI07426,AAI17300,AAI26169,Q3B7W8,Q6YPB0,Q71S60,Q86XS7,Q8IXB1,Q8N4C5,ADR83268,ADR83402 Hs.516632 DKFZp434J1813|ERdj5|JPDI|MGC104194 ER-resident protein ERdj5|J-domain-containing protein disulfide isomerase-like protein|MTHr|dnaJ homolog subfamily C member 10|macrothioredoxin protein-coding 1317094 DNAJC11 DnaJ (Hsp40) homolog, subfamily C, member 11 17624330,17222547,16710414,15489334,14702039,12964007,12477932,9110174,8619474,19808946,20877624,17207965 55735 AL031447,AL159177,CH471130,AF052158,AF306694,AF306695,AF306696,AK001599,AK025491,AK093709,AK095386,NM_018198,AK294539,AK298378,AL109978,AL833841,AY336749,BC006086,BC008772,BC014145,CR603964,DB461237 NP_060668,CAI19464,CAI19465,CAI19466,CAI19467,CAH71591,CAH71592,CAH71593,EAW71570,EAW71571,EAW71572,BAA91780,BAG53038,BAG57746,BAG60614,CAB53376,CAD38701,AAR02411,AAH06086,AAH08772,AAH14145,Q5TH61,Q9NVH1,Q9UMU8,ADQ32081 Hs.462640 FLJ10737|RP1-126A5.3|dJ126A5.1 dnaJ homolog subfamily C member 11|novel DnaJ domain-containing protein protein-coding 1602472 DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 16712791,17373700,16391838,15489334,15164054,12477932,10760603,16385451 56521 NM_021800,NM_201262,AL133551,CH471083,AF176012,AF176013,AK289537,BC017018,CB121724,CR457184,CR594852 NP_068572,NP_957714,CAC04172,CAI16033,EAW54255,EAW54256,EAW54257,AAD52650,AAD52651,BAF82226,AAH17018,CAG33465,Q6IAH1,Q9UKB3 Hs.260720 JDP1|RP11-57G10.2 J domain containing protein 1 (JDP1)|J domain protein 1|dnaJ homolog subfamily C member 12|j domain-containing protein 1 protein-coding 1317589 DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 18307993,18256511,16179350,15489334,15302935,15051737,14702039,12477932,12438707,9734811 23317 BC033782,NM_015268,AC020632,AC020633,AC026374,CH471052,AB014578,AI189887,AK023168,AK098729,AK125330,AK127112,AY369172,AY779857,BC000164,BC009630,BC040638,BC043583,BC065756,BC105580,BC151246 NP_056083,EAW79198,EAW79199,BAA31653,BAG51164,BAC05394,BAC86133,BAC86835,AAQ57271,AAV41096,AAH00164,AAH09630,AAH40638,AAH43583,AAI05581,AAI51247,O75165,Q0D2M7,Q8N7A5 Hs.12707 FLJ25863|KIAA0678|RME8 DnaJ domain-containing protein RME-8|RME-8|dnaJ homolog subfamily C member 13|required for receptor-mediated endocytosis 8 protein-coding 1349604 DNAJC14 DnaJ (Hsp40) homolog, subfamily C, member 14 632650 16344560,15489334,14993367,14702039,12768437,12477932,12446598,11984006,11331877,11181995 632650 85406 NM_032364,AC023055,CH471054,AF141342,AF351784,AK055945,AK057354,AK123025,AK291222,AY188447,BC080655,BC117146,BC117148,DA127901,EF560741 NP_115740,EAW96832,EAW96833,EAW96834,EAW96835,EAW96836,EAW96837,AAG49445,AAK56241,BAB71050,BAB71445,BAG53854,BAF83911,AAO73451,AAH80655,AAI17147,AAI17149,ABQ59051,Q6Y2X3,Q96M65,Q9C062,EAW96839,ADR83105,ADR83341 Hs.709320 DNAJ|DRIP78|HDJ3|LIP6 LYST-interacting protein LIP6|dnaJ homolog subfamily C member 14|dnaJ protein homolog 3|dopamine receptor interacting protein|dopamine receptor-interacting protein of 78 kDa|hDj-3|human DnaJ protein 3 protein-coding 1316177 DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15 18029348,18324624,17283040,16049974,15489334,15057823,14729589,19734545,12477932,11358853,20877624 29103 NM_013238,AL445217,CH471075,AF126743,AK311866,AY248898,AY512565,BC010910,BC095400,CA444534,CR624365 NP_037370,CAI13480,EAX08688,AAD38506,BAG34807,AAP20049,AAS80157,AAH10910,AAH95400,Q9Y5T4 Hs.438830 DNAJD1|HSD18|MCJ DNAJ domain-containing|DnaJ (Hsp40) homolog, subfamily D, member 1|cell growth-inhibiting gene 22 protein|dnaJ homolog subfamily C member 15|dnaj (hsp40) homolog, subfamily d, member 1|methylation-controlled J protein protein-coding 1603691 DNAJC16 DnaJ (Hsp40) homolog, subfamily C, member 16 16710414,15489334,14702039,12477932,12168954,10231032,19773279 23341 NM_015291,AL121992,AL512883,CH471167,AB023179,AK022530,AK023805,AK091848,AK292479,AL137715,AL833299,BC031991,BC047363,BX648982,CR749259,CR749567 NP_056106,CAI22370,CAI22371,CAI22372,CAI12975,CAI12976,CAI12977,EAW51732,EAW51733,EAW51734,BAA76806,BAG51085,BAG51224,BAG52425,BAF85168,AAH31991,AAH47363,CAH18115,CAH18363,Q5TDG9,Q5TDH4,Q9Y2G8 Hs.655410 DKFZp686G1298|DKFZp686N0387|DKFZp781I1547|KIAA0962|RP4-680D5.1 OTTHUMP00000002469|OTTHUMP00000002471|dnaJ homolog subfamily C member 16|novel DnaJ domain-containing protein protein-coding 1602696 DNAJC17 DnaJ (Hsp40) homolog, subfamily C, member 17 17081983,15489334,14702039,12477932,16344560,19913121,20628086 55192 NM_018163,AC012476,CH471125,AK001496,AK308659,AK308858,AK309307,AK310140,BC000048,AA834211,DA341962 NP_060633,EAW92444,EAW92445,BAA91724,AAH00048,Q9NVM6 Hs.511069 FLJ10634 dnaJ homolog subfamily C member 17 protein-coding 1602641 DNAJC18 DnaJ (Hsp40) homolog, subfamily C, member 18 16344560,8889548,18676680,15489334,14702039,12477932,19170196,19240791,19625176,19692168,17207965 202052 NM_152686,AC142391,BU735127,DA497858,CH471062,AK001329,AK308138,BC030162 NP_689899,EAW62102,AAH30162,Q9H819,ADQ32259 Hs.483537 MGC29463 dnaJ homolog subfamily C member 18 protein-coding 1603908 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 16712791,16055927,12592411,17244376,15489334,14517234,12477932,10737800,8889548,16344560,19564938,20053669 131118 NM_145261,AC008009,CH471052,AI268262,AK307097,AK311765,AW161751,BC009702,BC073989,BE773017,BF666599,BG492744,BM701756,BU685935,CB054787,CR615985,AA775489,BM702203,CB052107,CB159371,DA158066,NG_022933,NM_001190233,NR_033721,NR_033722,NR_033723,NR_033724,NR_033725 NP_660304,EAW78358,EAW78359,EAW78360,EAW78361,EAW78362,EAW78363,EAW78364,BAG34708,AAH09702,AAH73989,Q96DA6,NP_001177162 Hs.230601 Pam18|TIM14|TIMM14 OTTHUMP00000212660|OTTHUMP00000212661|OTTHUMP00000212662|OTTHUMP00000212663|homolog of yeast TIM14|mitochondrial import inner membrane translocase subunit TIM14 protein-coding 733241 DNAJC2 DnaJ (Hsp40) homolog, subfamily C, member 2 This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq] 1580863 18399720,17081983,16344560,16002468,15802566,14702039,14696097,12800198,12477932,11034098,8885239,18029348 27000 NM_001129887,NM_014377,AC004668,CH471070,AI621015,AK126382,AL832847,BC000859,BC012376,BC032854,BC046351,BC056682,BC062703,BC125057,BC139751,CR598046,CR615654,DA272314,DA691752,X98260 NP_001123359,NP_055192,EAW83329,EAW83330,AAH00859,AAH62703,AAI25058,AAI39752,CAA66913,Q08AR5,Q6P5S9,Q99543,AAI60045 Hs.558476 MPHOSPH11|MPP11|ZRF1|ZUO1 M-phase phosphoprotein 11|dnaJ homolog subfamily C member 2|zuotin related factor 1|zuotin related factor 2|zuotin-related factor 1 protein-coding 734039 DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21 16952052,17081983,15489334,15067379,14702039,12477932 134218 NM_194283,NM_001012339,AC008795,AC026801,CH471119,CS300535,AK022694,AK054651,AK127749,AY177688,AY258422,BC050472,BC065745,BC107577,BX648765,CR610463 NP_919259,NP_001012339,EAW55911,CAK32199,BAC87112,AAO46910,AAP81807,AAH50472,AAH65745,AAI07578,Q5F1R6,AAI41524 Hs.131887 DNAJA5|GS3|JJJ1 DnaJ homology subfamily A member 5|GS3 protein|JJJ1 DnaJ domain protein homolog|dnaJ homolog subfamily A member 5|dnaJ homolog subfamily C member 21|putative regulation protein gs3 protein-coding 1602458 DNAJC22 DnaJ (Hsp40) homolog, subfamily C, member 22 17558392,14702039,12477932 79962 NM_024902,AC125611,CH471111,AK055747,BC033236 NP_079178,EAW58066,EAW58067,BAG51566,AAH33236,Q8N4W6 Hs.659300 FLJ13236|wus dnaJ homolog subfamily C member 22|wurst homolog protein-coding 1350551 DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24 Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM] 737633 15489334,15485916,14702039,12477932 737633 120526 NM_181706,AC108456,AL137804,CH471064,AK123087,AK289665,AL050199,AL833128,BC036571,BC044931,BC063804,CD685768 NP_859057,CAM28214,EAW68241,EAW68242,EAW68243,EAW68244,EAW68245,EAW68246,EAW68247,BAF82354,Q6P3W2,AAH36571,AAH63804 Hs.187269,Hs.725298 DPH4|JJJ3|ZCSL3 1700030A21Rik|CSL-type zinc finger-containing protein 3|DPH4 homolog (JJJ3, S. cerevisiae)|DPH4, JJJ3 homolog|DPH4, JJJ3 homolog (S. cerevisiae)|OTTHUMP00000165107|dnaJ homolog subfamily C member 24|zinc finger, CSL domain containing 3|zinc finger, CSL-type containing 3|zinc finger, csl domain containing 3 protein-coding 1603327 DNAJC25 DnaJ (Hsp40) homolog, subfamily C , member 25 14702039,12477932 548645 NM_001015882,AL135787,CH471105,AF447177,AK095452,BC048318,CR602806,CR618166,CR619882,AW629467,DR004317,NR_037148 NP_001015882,CAC22154,EAW59085,AAQ04643,BAG53057,AAH48318,Q9H1X3 Hs.534196 bA16L21.2.1 DnaJ-like protein|dnaJ homolog subfamily C member 25 protein-coding 1602712 DNAJC27 DnaJ (Hsp40) homolog, subfamily C, member 27 18391951,14980719,12477932,9564038,20877624,20881960,20935630 51277 NM_016544,AC012073,AC013267,CH471053,AF178983,AK294726,AL117490,AL137731,AY094594,BC034049,BK001284,NM_001198559 NP_057628,AAY14788,AAX93052,EAX00735,EAX00736,EAX00737,EAX00738,AAF44347,BAG57873,CAI46214,AAM22521,AAH34049,DAA01323,Q53T06,Q53T53,Q9NZQ0,NP_001185488 Hs.434993 DKFZp434N211|RBJ|RabJS Ras-associated protein Rap1|dnaJ homolog subfamily C member 27|rab and DnaJ domain containing|rab and DnaJ domain-containing protein protein-coding 1353353 DNAJC28 DnaJ (Hsp40) homolog, subfamily C, member 28 16344560,15489334,14702039,12477932,12036298,10830953,9373149,8125298 54943 NM_001040192,NM_017833,AP000302,CH471079,AF462153,AK000468,AK225514,BC029509,DA234338,DA249316,AC207981 NP_001035282,NP_060303,EAX09830,EAX09831,AAL59618,BAA91185,Q9NX36,AAI56695 Hs.458308 C21orf55|C21orf78 dnaJ homolog subfamily C member 28 protein-coding 1347817 DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3 The protein encoded by this gene contains multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq] 1580863 20554776,20237496,7511204,8666242,18568130,15489334,15057823,12601012,12477932,12446838,12034040,11991713,11939789,11526399,11147971,9920933,9447982,8824808,8824806,8576172,11116152 5611 NM_006260,AL136104,AL138955,AY795482,CH471085,AF339773,AK024941,AK292947,AK312861,BC033823,BC047936,CR601256,AA430108 NP_006251,CAH70090,AAV40838,EAX08959,BAF85636,BAG35713,AAH47936,Q13217 Hs.59214 FLJ21288|HP58|P58|P58IPK|PRKRI dnaJ homolog subfamily C member 3|interferon-induced, double-stranded RNA-activated protein kinase inhibitor|protein kinase inhibitor of 58 kDa|protein kinase inhibitor p58|protein-kinase, interferon-inducible double stranded RNA dependent inhibitor protein-coding 1348350 DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq] 1580600,1580863 15489334,15231747,14702039,12853948,12477932,12073013,17207965,20877624 1580600 84277 NM_032317,AC073846,CH471200,AF412025,AK058113,AK094305,BC005056,CR596408,CR623869 NP_115693,AAS07471,EAW69658,AAM62307,BAB71671,BAG52856,AAH05056,Q96LL9,ADQ32669 Hs.647046 MGC12943|WBSCR18 Williams Beuren syndrome chromosome region 18|dnaJ homolog subfamily C member 30|williams-Beuren syndrome chromosomal region 18 protein protein-coding 1318614 DNAJC4 DnaJ (Hsp40) homolog, subfamily C, member 4 1580863 20877624,17207965,9473517,15489334,12477932,11147971,20237496,20029029,19913121,20628086 3338 NM_005528,AP001453,AP006334,CH471076,AA504260,AF012106,AF036874,BC010145,BC032137,BC044584,BC051008,BC053947,BC057849,BI561130 ADQ32522,NP_005519,EAW74212,EAW74213,EAW74214,EAW74215,EAW74216,EAW74217,EAW74218,EAW74219,EAW74220,AAB82426,AAF97845,AAH10145,AAH32137,AAH44584,AAH51008,AAH57849,Q6PIN0,Q86VG4,Q96FY5,Q9NNZ3 Hs.172847 DANJC4|HSPF2|MCG18|MGC19482|MGC57189|MGC71863 dnaJ homolog subfamily C member 4|dnaJ-like protein HSPF2|heat shock 40kD protein 2|multiple endocrine neoplasia type 1 candidate protein number 18 protein-coding 1344057 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1580863 20453918,19098309,18596047,18314541,16469739,15972823,15610015,15489334,14997482,14702039,14570907,12477932,12039948,11780052,11604405,11214971,10194413,8764987,18029348,12750892 80331 DB452738,NM_025219,AL118506,CH471077,AK023132,AK024508,AK074041,AK128776,AK289585,AL137301,BC009922,BC028570,BC053642,CR595822,CR607484,CR627461 NP_079495,CAC15495,EAW75191,EAW75192,EAW75193,BAB15798,BAB84867,BAG54730,BAF82274,AAH53642,CAH10594,Q6AHX3,Q8TET0,Q9H3Z4 Hs.164419 CSP|DKFZp434N1429|DKFZp761N1221|DNAJC5A|FLJ00118|FLJ13070 cysteine string protein|cysteine string protein alpha|dnaJ homolog subfamily C member 5 protein-coding 1348913 DNAJC5B DnaJ (Hsp40) homolog, subfamily C, member 5 beta 737633,1580863 12477932,17034881,15489334,17207965 737633 85479 NM_033105,AC084082,CH471068,AF368276,AL133660,BC016742,BG701336,BU627018,CR607613 NP_149096,EAW86887,EAW86888,EAW86889,AAK60571,CAB63773,AAH16742,Q9UF47,ADQ32825 Hs.491885 CSP-beta|MGC26226 beta cysteine string protein|beta-CSP|dnaJ homolog subfamily C member 5B|dnaJ homolog subfamily C member X protein-coding 1316617 DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 1580863 15489334,14702039,12477932 285126 NM_173650,AC013413,CH471053,AF368277,AK097736,AK302239,BC035194,HC006934,HC044673 NP_775921,AAY24295,EAX00608,EAX00609,AAK60572,BAC05155,BAG63591,AAH35194,Q8N7S2,Q53SY5,CBH19272,CBH30666 Hs.116303 CSP-gamma|FLJ40417 OTTHUMP00000201088|OTTHUMP00000201089|dnaJ homolog subfamily C member 5G|gamma cysteine string protein|gamma-CSP|gamma-cysteine string protein protein-coding 1320495 DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 19165527,18489706,16710414,15489334,15342556,12477932,11470803,11147971,9455484,9455477,12732633,11031247,11252894,19851296,20198315 9829 AC119800,AL139294,AL355487,CH471059,AB007942,AK296408,BC051722,BC109279,BC109280,BP311649,NM_014787,BQ423527,BX647203,CR747692 NP_055602,CAI18997,CAI18999,CAI23547,CAI23548,EAX06533,EAX06534,EAX06535,EAX06536,EAX06537,BAA32318,BAH12344,AAH51722,AAI09280,AAI09281,O75061 Hs.647643 DJC6|KIAA0473|MGC129914|MGC129915|MGC48436 DnaJ (Hsp40) homolog, subfamily B, member 6|auxilin|dnaJ homolog subfamily C member 6|putative tyrosine-protein phosphatase auxilin protein-coding 1349384 DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 DNAJC7 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 8836031,18620420,16381901,15592455,15489336,15489334,15342556,12853476,12477932,11230166,11147971,11076863,11573955,20562859,20661446,20936779,15189447,15231748,15761153,18029348 7266 NM_001144766,AC105024,AC125257,CH471152,AB209834,AK291047,AK296602,AK298860,AK308016,AK316081,BC003601,BC011837,BC033772,NM_003315,BP378441,BX647209,CR594610,CR600431,CR609021,CR615988,CR620632,CR622093,U46571,BQ445927,DB453150,NR_029431 NP_003306,NP_001138238,EAW60788,EAW60789,BAD93071,BAF83736,BAG59215,BAG60982,BAH14452,AAH03601,AAH11837,AAH33772,AAB36872,Q59EH7,Q7Z784,Q99615,CAL38388,ABM83990,ABM87316 Hs.500156 DANJC7|DJ11|DJC7|TPR2|TTC2 TPR repeat protein 2|dnaJ homolog subfamily C member 7|tetratricopeptide repeat domain 2|tetratricopeptide repeat protein 2 protein-coding 1314401 DNAJC8 DnaJ (Hsp40) homolog, subfamily C, member 8 1580863 12226669,16710414,16344560,15635413,15489334,12477932,11790298,11147971,12234937,20379614,20098747 22826 NM_014280,AL353354,AL353622,CH471059,AF083190,AF161433,AF161449,AK300797,BC033159,BX538122,CR456900,CR590118,CR590514,CR599047,CR599576,CR599943,CR607856,CR608396,CR610662,CR614495,CR614753,CR615456,CR619944,DB294321 NP_055095,CAI20826,CAI19135,EAX07707,EAX07708,EAX07709,EAX07710,AAC35352,AAF28993,AAF29009,BAG62456,AAH33159,CAG33181,O75937,Q9P1E0 Hs.433540 HSPC331|SPF31 dnaJ homolog subfamily C member 8|splicing protein spf31 protein-coding 1351151 DNAJC8P1 DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1 19773279 319111 NG_002493,AL133163 pseudo 1312781 DNAJC9 DnaJ (Hsp40) homolog, subfamily C, member 9 1580863 12477932,19710015,20099975,20379614,19862764,14702039,11444854,10231032,17182002 23234 NM_015190,AC016394,CH471083,AF327347,AK074420,AK094162,BC136507 NP_056005,EAW54483,EAW54484,EAW54486,AAL56008,BAB85076,BAG52832,AAI36508,Q8WXX5 Hs.408577 HDJC9|JDD1|KIAA0974|SB73 DnaJ protein SB73|dnaJ homolog subfamily C member 9 protein-coding 1320134 DNAL1 dynein, axonemal, light chain 1 DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement (Horvath et al., 2005 [PubMed 15845866]).[supplied by OMIM] 737633 15845866,15489334,12477932,20379614 737633 83544 NM_031427,AC005225,AC006146,CH471061,AF542071,AI242197,AK026653,AK315392,AL833654,BC005343,NG_028083,BJ996719,BQ267448,NM_001201366 NP_113615,EAW81123,EAW81124,AAQ11377,BAG37785,CAI46147,AAH05343,Q4LDG9,NP_001188295 Hs.525445 C14orf168|MGC12435 1700010H15RiK|axonemal dynein light chain|chromosome 14 open reading frame 168|dynein light chain 1, axonemal protein-coding 1319248 DNAL4 dynein, axonemal, light chain 4 DNAL4 is a component of the dynein motor complex (Iwasaki et al., 2005 [PubMed 15454493]).[supplied by OMIM] 1580863 11157096,18029348,16189514,15489334,15461802,15454493,12529303,12477932,10591208,9373149,8125298 10126 AL008583,CH471095,CS185552,AK223349,AK290566,AL035366,AY453399,BC002968,BT009847,BX473356,CR456487,NM_005740,CR542177,CR542195,CR602893,CR606519,CR607444 NP_005731,CAA15429,EAW60272,CAJ42733,BAD97069,BAF83255,CAA23018,AAS47516,AAH02968,AAP88849,CAG30373,CAG46974,CAG46992,O96015,Q53FE0,Q6FGB2,Q6FGD0,CAK54478,CAK54777 Hs.632766 PIG27 dynein light chain 4, axonemal|dynein light chain, outer arm 4|dynein, axonemal, light 4|dynein, axonemal, light polypeptide 4|proliferation-inducing gene 27|proliferation-inducing protein 27 protein-coding 1319504 DNALI1 dynein, axonemal, light intermediate chain 1 This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq] 1580863 17207965,9284741,16990435,16710414,15489334,12477932,9373149,8125298,16169070,20379614 7802 NM_003462,AL034379,CH471059,AF006386,AI128097,AK126963,AK225935,AK290502,BC039074,BC046117,BX647913,AK295199,AK299918 NP_003453,CAI20553,EAX07334,EAX07335,EAX07336,AAB69193,BAF83191,AAH39074,AAH46117,CAI46082,O14645,ADQ33091,BAG58198,BAG61755 Hs.406050 P28|dJ423B22.5|hp28 axonemal dynein light intermediate polypeptide 1|dJ423B22.5 (axonemal dynein light chain (hp28))|dynein, axonemal, light intermediate polypeptide 1|inner dynein arm light chain, axonemal|inner dynein arm, homolog of clamydomonas protein-coding 736197 DNASE1 deoxyribonuclease I This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 12849983,2349940,19360410,19318394,19055475,19022625,18311594,18174230,17588132,17405189,17360785,17320453,17032129,16877481,16771825,16449364,16382368,16352456,15711563,15616553,15489334,15363449,15333586,15188364,14702039,14688237,14613299,12708782,12477932,12005024,11707283,11479590,11474115,11332641,11241278,10381379,9420147,8792814,8586059,7867802,7789176,7762978,7625762,3263467,2921043,2395459,2277032,2251263,19181929,19362700,19863681,19913121,20628086,20856893,20439745,20417303,20800603 1773 NM_005223,NG_009285,AC005203,AC006111,CH471112,D83195,AB188151,AB188152,AI378682,AJ298844,AK095412,AK126850,AK300914,BC015002,BC029437,BC064332,BC095475,BX648257,BX648480,M55983 NP_005214,AAC24721,EAW85343,EAW85344,BAA11841,BAE96964,BAE96965,CAC12813,BAG62547,AAH29437,AAA63170,P24855,Q14UU9,Q14UV0,ABM83024,ABM86217 Hs.629638 DKFZp686H0155|DNL1|DRNI|FLJ38093|FLJ44902 DNase I, lysosomal|Dornase alfa|deoxyribonuclease-1|human urine deoxyribonuclease I protein-coding 1348755 DNASE1L1 deoxyribonuclease I-like 1 This gene encodes a member of the deoxyribonuclease family and the protein shows high sequence similarity to lysosomal DNase I. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq] 1580863 8733135,9205125,17180083,16381901,16107205,15772651,15489336,15489334,15146197,12477932,11076863,10409440,8654957,8541839,11256614,20967767,19913121,20503202,20628086 1774 NM_001009934,NM_001009933,NM_001009932,NM_006730,BX936347,CH471172,L40817,AL079680,BC001561,BC028092,BG468580,BI756240,BT019990,CN346700,CR621453,L40823,U06846,X90392,X90393,NG_012884 NP_001009934,NP_001009933,NP_001009932,NP_006721,CAI43204,CAI43205,EAW72731,EAW72732,EAW72733,EAW72734,EAW72735,AAB00495,AAH01561,AAH28092,AAV38793,AAB00496,AAB17022,CAA62037,P49184,Q5HY40,Q5TZW2,CAL37693,ABM82607,ABM85792 Hs.401929 DNAS1L1|DNASEX|DNL1L|XIB DNase I, lysosomal-like|DNase I-like 1|DNase I-like, muscle-specific|DNase X|OTTHUMP00000032113|OTTHUMP00000196448|deoxyribonuclease-1-like 1|muscle-specific DNase I-like protein-coding 1318821 DNASE1L2 deoxyribonuclease I-like 2 1580863 9205125,17474147,17490414,16902420,15489334,15203207,14702039,12477932,11141064,1577479,20503202,20967767 1775 NM_001374,AC009065,AY298958,CH471112,AK098028,AY298957,BC035205,BC063710,U62647 NP_001365,AAQ73760,AAQ73761,EAW85526,EAW85527,EAW85528,EAW85529,BAG53566,AAQ73759,AAH35205,AAH63710,AAB63981,Q6JVM2,Q6JVM3,Q92874 Hs.103503 DNAS1L2 DNase I homolog protein DHP1|DNase I-like 2|deoxyribonuclease-1-like 2 protein-coding 733865 DNASE1L3 deoxyribonuclease I-like 3 This gene encodes a member of the DNase family. The protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 9070308,9205125,16427601,15629432,15489334,14725611,14702039,14646506,12943533,12477932,12154052,12095301,11141064,9714828,8093058,19559017,19574717,20379614,20800603 1776 AC137936,CH471055,AB209613,AF047354,AI591302,AK097120,AK131323,AK301263,AK313303,BC015831,BI834035,CR602169,CR607614,U56814,NM_004944 NP_004935,EAW65358,EAW65359,BAD92850,AAC35752,BAG54766,BAH13443,BAG36108,AAH15831,AAB63967,Q13609,Q59F48,ABM83776,ABM87096 Hs.476453 DHP2|DNAS1L3|LSD DNase I homolog protein 2|DNase I homolog protein DHP2|DNase I-like 3|DNase gamma|LS-DNase|Liver and spleen DNase|OTTHUMP00000214191|OTTHUMP00000214193|deoxyribonuclease I-like III|deoxyribonuclease gamma protein-coding 1343662 DNASE2 deoxyribonuclease II, lysosomal This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq] 1580863 9714827,17353931,18812394,17192590,16303743,15723160,15489334,15057824,12944971,9535749,12754519,12694199,12594037,12558498,12477932,12147225,11906178,10903447,10675544,10080942,9924608,9812984,9647784,9446563,6248503,1586130,1540651 1777 NM_001375,AB008564,AC020934,AD000092,CH471106,AB004574,AF045937,AF047016,AF060222,AK075449,AK297493,AK311145,AK315358,BC010419,BC065209,BT007047,BX394955,CR605842,CR608424,CR612006,CR616269,CR617284,FJ752529 NP_001366,BAB55598,AAB51172,EAW84320,EAW84321,EAW84322,BAA28623,AAC35751,AAC77366,AAC39852,BAG52141,BAH12592,BAG37753,AAH10419,AAH65209,AAP35696,ACN63522,O00115 Hs.118243 DNASE2A|DNL|DNL2 DNase II alpha|DNase II, lysosomal|R31240_2|acid DNase|deoxyribonuclease II alpha|deoxyribonuclease-2-alpha|lysosomal DNase II protein-coding 1607010 DNASE2B deoxyribonuclease II beta The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 20201924,12944971,12594037,12477932,11700027,11376952,20800603 58511 NM_021233,NM_058248,AF334602,AL359273,CH471097,AF274571,AF333389,BC065182,BC080621,BC126136,BC126138 NP_067056,NP_490649,AAL34449,CAH73126,CAH73127,EAW73238,EAW73239,AAF76893,AAL34448,AAH80621,AAI26137,AAI26139,A0AUY7,Q66K39,Q8WZ79,ADR82973 Hs.129142 DLAD DNase II beta|DNase II-like acid DNase|DNase2-like acid DNase|deoxyribonuclease-2-beta|endonuclease DLAD|lysosomal DNase II protein-coding 735307 DNCH2 dynein, cytoplasmic, heavy chain 2 1779 1352816 DNCL1P1 dynein, cytoplasmic, light polypeptide 1 pseudogene 1 338455,246720 AC010582,AL136040,NG_001584 DNCL1P1 pseudo 1349738 DNCL1P2 dynein, cytoplasmic, light polypeptide 1 pseudogene 2 338456 1352622 DNCM DNA associated with cytoplasmic membrane 1061086,6278420 1784 1321748 DND1 dead end homolog 1 (zebrafish) 1580863 12477932,17464447,18160032,18414021,18155131,18069663,15902260,15489334,12932328,20411342,20816961 373863 NM_194249,AC116353,CH471062,AY321065,BC033496 NP_919225,EAW62027,AAQ63635,AAH33496,Q8IYX4,ABM83381,ABM86593,ABW03668 Hs.591262 MGC34750|RBMS4 RNA-binding motif, single-stranded-interacting protein 4|dead end protein homolog 1 protein-coding 1349489 DND1P1 dead end homolog 1 pseudogene 1 406878,644157 AC126544,AC127032,NG_022468 pseudo 1348677 DND1P2 dead end homolog 1 pseudogene 2 406879,644256 AC005829,AC127032,NG_022452 pseudo 1605895 DNER delta/notch-like EGF repeat containing 20367751,11950833,16740002,16344560,15815621,15489334,12975309,12477932,11997712,9847074,20070733,20237496 92737 NM_139072,AC007559,AC007748,AC008273,AC093384,CH471063,AF442487,AK289553,AK304596,AK304631,AK308576,AL137311,AY358891,BC024766,BC035009,DA115906,DA400901 NP_620711,AAY14939,AAY24263,AAF19247,AAY14680,EAW70892,EAW70893,EAW70894,EAW70895,AAM21557,BAF82242,BAG65382,BAG65411,CAB70690,AAQ89250,AAH24766,AAH35009,Q8NFT8 Hs.234074 UNQ26|bet H_NH0150O02.1|WUGSC:H_NH0150O02.1|delta and Notch-like epidermal growth factor-related receptor|delta-notch-like EGF repeat-containing transmembrane protein-coding 1601824 DNHD1 dynein heavy chain domain 1 16344560,15489334,14702039,12975309,12693554,12477932,20379614,17525332 144132 NM_144666,NM_173589,AC009796,AC084337,CH471064,AB231767,AB231768,AB231769,AB231770,AB231771,AB231772,AB231773,AB231774,AB231775,AB231776,AB231777,AB231778,AB290171,AK057314,AK074178,AK093028,AK096944,AK125885,AK128064,AL137619,AL137690,AL834222,AY358770,BC067363,BC082757,BC111765,BC117301,BC117303,BC143910,BF509041,BG676072,BX647806,BX648742,DB074960,DB099871 NP_653267,NP_775860,EAW68692,EAW68693,EAW68694,EAW68695,EAW68696,EAW68697,BAG06725,BAB71423,BAB85004,BAC04023,CAB70845,CAB70876,AAQ89130,AAI11766,AAI17302,AAI17304,Q2NKK8,Q96M86,Q9NSW8 Hs.720080 C11orf47|CCDC35|DHCD1|DKFZp434G0812|DKFZp686J0796|DKFZp686N1238|DNHD1L|FLJ00251|FLJ32752|FLJ35709|FLJ39625|FLJ43897|FLJ46184|MGC133191 DNHD1 variant protein|coiled-coil domain containing 35|dynein heavy chain domain 1|dynein heavy chain domain 1-like protein-coding 1602953 DNHD1L dynein heavy chain domain 1-like 387750 XM_929181,XM_940957,AC009796,AK074178,AK125885,AL137619,BX647806 XP_934274,XP_946050,BAB85004,CAB70845,Q8TEE6 Hs.424183 CCDC35|DKFZp686J0796 protein-coding 1603156 DNHL1 dynein heavy chain-like 1 14702039,12477932 284944 NM_173645,AC096770,CH471053,AK094676,BC104884,BC113424,BC143666 NP_775916,AAY24108,EAW99556,EAW99557,BAC04400,AAI04885,AAI13425,AAI43667 Hs.249972 FLJ37357 hypothetical protein flj37357 protein-coding 2289758 DNLZ DNL-type zinc finger 18632665,12477932 728489 NM_001080849,AL592301,BC146915,BC146924,BC171835 NP_001074318,CAI13929,CAI13930,AAI46916,AAI46925,Q5SXM8 Hs.528581 C9orf151|HEP|MGC87491|TIMM15|ZIM17|bA413M3.2 DNL-type zinc finger protein|HSP70 escort protein|RP11-413M3.2|translocase of inner mitochondrial membrane 15 homolog protein-coding 733748 DNM1 dynamin 1 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 70725,1580863 10336464,10206341,9950691,9880482,9694653,9463375,9373149,9348539,9280305,9238017,9195986,9148966,9143509,8308025,8125298,8119878,7954789,7850421,7634088,2144893,12456676,9341169,9009162,12429846,9742220,9722593,11894096,10373452,21056892,10521508,15703209,15834155,16275660,17382318,17474147,18839057,19515832,19666604,19776347,19859085,10430869,10944110,8101525,19110265,18987626,18836734,17910478,17170701,16938290,16622417,16432212,16169070,15872089,15592455,15262989,15252117,15252009,15146195,15123615,15004222,14739229,14702039,14506234,12896979,12855954,12517701,12511974,12477932,12419186,12383797,12359736,12011079,11956154,11877424,11872741,11782545,11563969,11557983,11483962,11341978,11242086,11179417,11082044,11038180,10931822,10899172,10862698,10766777,10764144,20428113 70725 1759 NM_001005336,NM_004408,AL590708,CH471090,AB209124,AI660320,AK096629,AK127038,AK225179,AK295101,AK296326,AK308793,AK316235,BC050279,BC063850,CR592374,L07807,L07808,L07809,L07810 NP_001005336,NP_004399,CAI13837,CAI13839,EAW87759,EAW87760,BAD92361,BAG53342,BAG58137,BAG59018,BAH14606,AAH50279,AAH63850,AAA02803,AAA02804,AAA02805,AAA02806,Q05193,Q59GI5 Hs.522413 DNM OTTHUMP00000215500|dynamin-1 protein-coding 1343943 DNM1DN10@ DNM1 duplicon 10 cluster 15008788 387545 1346567 DNM1DN11@ DNM1 duplicon 11 cluster 15008788 387546 1343429 DNM1DN12@ DNM1 duplicon 12 cluster 15008788 387547 1350627 DNM1DN13 DNM1 duplicon 13 15008788 387548 1347520 DNM1DN14@ DNM1 duplicon 14 cluster 15008788 387549 1351455 DNM1DN15@ DNM1 duplicon 15 cluster 15008788 387550 1353201 DNM1DN16@ DNM1 duplicon 16 cluster 15008788 387551 1351640 DNM1DN18 DNM1 duplicon 18 15008788,15008788 387553,387553 AJ576285,AL049757,NG_009128 DNM1DN18 pseudo 1343725 DNM1DN19 DNM1 duplicon 19 15008788,15008788 387554,387554 AC010203,AJ576286,NG_009129 DNM1DN19 pseudo 1353852 DNM1DN1@ DNM1 duplicon 1 cluster 15008788 387536 1346994 DNM1DN20 DNM1 duplicon 20 15008788 387555 1352851 DNM1DN21 DNM1 duplicon 21 15008788 387556 1343454 DNM1DN22 DNM1 duplicon 22 15008788 387557 1353831 DNM1DN2@ DNM1 duplicon 2 cluster 15008788 387537 1351847 DNM1DN3@ DNM1 duplicon 3 cluster 15008788 387538 1351183 DNM1DN4@ DNM1 duplicon 4 cluster 15008788 387539 1349651 DNM1DN6 DNM1 duplicon 6 15008788 387541 1346865 DNM1DN7@ DNM1 duplicon 7 cluster 15008788 387542 1344898 DNM1DN8@ DNM1 duplicon 8 cluster 15008788 387543 733618 DNM1L dynamin 1-like The protein encoded by this gene is a member of the dynamin superfamily of GTPases. Members of the dynamin-related subfamily, including the S. cerevisiae proteins Dnm1 and Vps1, contain the N-terminal tripartite GTPase domain but do not have the pleckstrin homology or proline-rich domains. This protein establishes mitochondrial morphology through a role in distributing mitochondrial tubules throughout the cytoplasm. The gene has 3 alternatively spliced transcripts encoding different isoforms. These transcripts are alternatively polyadenylated. [provided by RefSeq] 1580863 17332775,17301055,16010987,15824135,15791210,15383276,15364948,15356267,14741701,12668660,12618434,12499366,12477932,11514614,9742220,9422767,9348079,20428767,16169070,16936636,19525928,20103533,20179104,20379614,9570752,12861026,9731200,12499352,9786947,19342591,19074440,18838687,18695047,18599615,18465792,17906671,17721437,17718388,17682056,17606867,17553808,20850011,20826455,20649536,20696759,16874301 10059 NM_012062,NM_012063,NM_005690,NG_012219,AC084824,AC087588,CH471116,AA236613,AB006965,AB209070,AF000430,AF061795,AF151685,AK123906,AK291094,AK293290,AK294533,AK298568,AK299926,AK302565,AK311606,BC024590,BC107763,BF725436,CR612950,DC377686 NP_036192,NP_036193,NP_005681,EAW88519,EAW88520,EAW88521,EAW88522,EAW88523,EAW88524,EAW88525,EAW88526,EAW88527,BAA22193,BAD92307,AAC23724,AAC35283,AAD39541,BAF83783,BAG56814,BAG57740,BAG60761,BAG61760,BAG63828,AAH24590,AAI07764,O00429,Q32Q67,Q59GN9,ABM82470,ABM85658 Hs.556296 DLP1|DRP1|DVLP|DYMPLE|DYNIV-11|FLJ41912|HDYNIV|VPS1 Dnm1p/Vps1p-like protein|dynamin family member proline-rich carboxyl-terminal domain less|dynamin-1-like protein|dynamin-like protein 4|dynamin-like protein IV|dynamin-related protein 1 protein-coding 1348829 DNM1P17 DNM1 pseudogene 17 15008788 100131084 NG_009124,AJ576284,AL161651 DNM1DN17|DNM1DN17@|FLJ10486 pseudo 2302444 DNM1P24 DNM1 pseudogene 24 15008788 100216505 NG_004755,AC023274,AJ576278 DNM1DN15-1|DNM1DN15@ pseudo 2302443 DNM1P25 DNM1 pseudogene 25 15008788 100216506 NG_004755,AC012005,AJ576280 DNM1DN15-3|DNM1DN15@ pseudo 2302442 DNM1P26 DNM1 pseudogene 26 15008788,9847074 100216507 NG_004755,AC006328,AJ576281 DNM1DN16-1|DNM1DN16@ pseudo 2302441 DNM1P27 DNM1 pseudogene 27 15008788,9847074 100216514 NG_004755,AC006328,AJ576283 DNM1DN16-3|DNM1DN16@ pseudo 2303840 DNM1P28 DNM1 pseudogene 28 15008788 100132031 NG_009142,AC120045,AJ576300,AJ576304 DNM1DN3-1|DNM1DN3-3|DNM1DN3.1|DNM1DN3.3|DNM1DN3@ pseudo 2302455 DNM1P29 DNM1 pseudogene 29 15008788 100132204 NG_009141,AC019322,AJ576303 DNM1DN3-2|DNM1DN3.2|DNM1DN3@ pseudo 2302257 DNM1P30 DNM1 pseudogene 30 15008788 728388 NG_009071,AC120045,AJ576305,AJ576308 DNM1DN3-4|DNM1DN3.4|DNM1DN3@|DNM1DN4-3|DNM1DN4@ pseudo 2303461 DNM1P31 DNM1 pseudogene 31 15008788 644153 NG_009133,AC139426,AJ576307 DNM1DN4-2|DNM1DN4.2|DNM1DN4@ pseudo 2302459 DNM1P32 DNM1 pseudogene 32 15008788 100132100 NG_009139,AC135983,AJ576310 DNM1DN4-5|DNM1DN4.5|DNM1DN4@ pseudo 2302445 DNM1P33 DNM1 pseudogene 33 15008788,12477932 554175 NG_009156,AC013486,AJ576301 DNM1DN7-2|DNM1DN7@ pseudo 2307388 DNM1P34 DNM1 pseudogene 34 15008788 729809 NG_009143,AC068338,AJ576251,AJ576255 DNM1DN8-1|DNM1DN8-5|DNM1DN8@ pseudo 2302536 DNM1P35 DNM1 pseudogene 35 15008788,11181995 100128285 NR_024595,AC019294,AJ576252,CH471136,AF357221 EAW99237,AAK43707 Hs.646496 DNM1DN8-2|DNM1DN8.2|DNM1DN8@ pseudo 2302440 DNM1P36 DNM1 pseudogene 36 15008788 100216515 NG_009135,AC135995,AJ576253 DNM1DN8-3|DNM1DN8@ pseudo 2302439 DNM1P37 DNM1 pseudogene 37 15008788 100216516 NG_009136,AC022748,AJ576268 DNM1DN10-1|DNM1DN10@ pseudo 2302438 DNM1P38 DNM1 pseudogene 38 15008788 100216517 NG_009137,AC135995,AJ576269 DNM1DN10-2|DNM1DN10@ pseudo 2302437 DNM1P39 DNM1 pseudogene 39 15008788,9847074 100216518 NG_009138,AC011295,AJ576259 DNM1DN11-3|DNM1DN11@ pseudo 2302449 DNM1P40 DNM1 pseudogene 40 15008788,12477932 400433 NG_009132,AC048382,AJ576261 DNM1DN11-5|DNM1DN11.5|DNM1DN11@ pseudo 2302832 DNM1P41 DNM1 pseudogene 41 15008788 440299 AC136698,AJ576262,AL137524,NR_033787 Hs.725661 DKFZp434H2218|DNM1DN11-6|DNM1DN11.6|DNM1DN11@ pseudo 2302436 DNM1P42 DNM1 pseudogene 42 15008788,9847074 100216541 NG_009144,AC010724,AJ576264 DNM1DN11-8|DNM1DN11@ pseudo 2302261 DNM1P43 DNM1 pseudogene 43 15008788 100216466 NG_009070,AC126339,AJ576266 DNM1DN11-10|DNM1DN11@ pseudo 2303457 DNM1P44 DNM1 pseudogene 44 15008788 440303 NG_009148,AC136704,AJ576312 DNM1DN11-13|DNM1DN11.13|DNM1DN11@ pseudo 2302435 DNM1P45 DNM1 pseudogene 45 15008788 100216542 NG_009145,AC044860,AJ576271 DNM1DN12-2|DNM1DN12@ pseudo 2302434 DNM1P46 DNM1 pseudogene 46 15008788 100216543 NG_009146,AC090825,AJ576275 DNM1DN14.2|DNM1DN14@ pseudo 2302433 DNM1P47 DNM1 pseudogene 47 15008788 100216544 NG_009149,AC107977,AJ576276 DNM1DN14-3|DNM1DN14@ pseudo 4144529 DNM1P48 DNM1 pseudogene 48 100418739 AC006328,NG_024819 pseudo 1346176 DNM1P5 DNM1 pseudogene 5 15008788 728770 NG_009127,AC027139,AJ576290 DNM1DN5|DNM1DN5@ pseudo 1354101 DNM1P9 DNM1 pseudogene 9 15008788 400403 NG_009125,AC104758,AJ576256 DNM1DN9|DNM1DN9-1|DNM1DN9@ pseudo 730970 DNM2 dynamin 2 Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Four alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq] 1580863 18817572,19932619,20397975,20227276,7590285,11583995,10893263,10101292,19528294,19331814,19155218,19126407,19122038,18981119,18806795,18560793,18394888,18236001,18003703,17932957,17825552,17702746,17702744,17636067,17626097,17565002,17412836,16556602,16551695,16325581,16227997,16049137,15895076,15731758,15696170,15545517,15489334,15483625,15302935,15299020,15231748,15231747,15057824,14760703,14702039,12668728,12517701,12511974,12481986,12477932,12456676,12419186,12383797,12029088,11782545,11533912,11502744,11483962,10477567,9143510,9722593,16169070,12624098,12952949,20822789,11031247,11252894,14985334,15252009,15703209,15790807,15834155,16344560,16696976,17474147,17643375,19041431,19502294,19623537,19833721,20089652,20468064,20508983,20562859 1785 AK295929,AK312260,BC039596,BC054501,BM148999,CR626015,L36983,NM_001005360,NM_004945,NM_001005361,NM_001005362,NG_008792,AC007229,AC011475,AC011552,AC011554,AC112707,CH471106,AB209213,AK023207,AK094984,AK097875,AK097967,AK097989,AK124881,AK126192,AK127033,AK289831,AY927542,BU621654,DB069057,NM_001190716 BAG58715,AAH39596,AAH54501,AAA88025,P50570,Q59G96,Q6ZSZ9,Q6ZTU8,Q6ZV85,Q8N1K8,Q9UPH5,BAF82520,NP_001005360,NP_004936,NP_001005361,NP_001005362,AAD23603,AAD23604,EAW84144,EAW84145,EAW84146,EAW84147,EAW84148,EAW84149,EAW84150,EAW84151,BAD92450,BAG52966,BAC05190,BAG53560,BAC85978,BAC86481,BAC86797,NP_001177645 Hs.211463 CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII dynamin II|dynamin-2 protein-coding 1354127 DNM3 dynamin 3 Members of the dynamin family, such as DNM3, possess mechanochemical properties involved in actin-membrane processes, predominantly in membrane budding (Orth and McNiven, 2003 [PubMed 12517701]).[supplied by OMIM] 1580863 15252009,19266077,19007685,18691388,18391951,18033314,17880892,16710414,16381901,15489336,14762214,14760703,14702039,12517701,12511974,12477932,12383797,12168954,11230166,11076863,10048485,9808459,9722593,20546612,20700106,17474147,19820697,20379614,20935629 26052 BC047089,BC064546,BQ723087,DC316799,NM_001136127,AL031864,AL121984,AL133514,AL137157,AL445990,AL512843,CH471067,Z97195,AB020627,AK056279,AK307806,AK308992,AL035110,AL136712,NM_015569,BC037326 AAH64546,Q6P2G1,Q9UQ16,CAL38543,CAL38721,NP_056384,NP_001129599,CAI22006,CAI22007,CAI22008,CAH71950,CAH71951,CAH71952,CAH74079,CAH74080,CAI19210,CAI19211,CAI19212,CAH69969,CAH69970,CAH71039,CAH71040,CAH71041,EAW90915,EAW90916,EAW90917,EAW90918,EAW90919,EAW90920,EAW90921,EAW90922,CAI19054,CAI19055,BAA74843,BAG51664,CAB66647 Hs.654775 KIAA0820|MGC70433 Dyna III|OTTHUMP00000032875|OTTHUMP00000032876|T-dynamin|dynamin family member|dynamin, testicular|dynamin-3 protein-coding 1349665 DNMBP dynamin binding protein DNMBP belongs to the DBL (MIM 311030) family of guanine nucleotide exchange factors and plays a role in the regulation of cell junctions (Otani et al., 2006 [PubMed 17015620]).[supplied by OMIM] 16385451,18654987,19807924,18452187,18359537,17442457,17015620,16740596,15489334,15302935,14506234,12477932,10231032 23268 NM_015221,AL392107,AL441886,AL627434,CH471066,AA771860,AB023227,AK128576,AK303479,AL833283,AY196211,BC041628,CR597882 NP_056036,CAI11009,CAI13076,CAI13197,EAW49849,EAW49850,BAA76854,BAG54695,BAG64515,AAP34307,AAH41628,Q6XZF7 Hs.500771 ARHGEF36|KIAA1010|RP11-114F7.3|TUBA OTTHUMP00000020271|dynamin-binding protein|scaffold protein TUBA protein-coding 1354178 DNMT1 DNA (cytosine-5-)-methyltransferase 1 DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2301221,2301220,1580863 19124506,11748221,11399088,8940105,18754681,10888872,18413740,19539327,19468253,19465937,19450230,19424621,19399937,19386473,19339266,19292979,19282482,19275888,19246518,19211935,19173286,19161160,19064572,19019634,19016755,18829110,18680430,18567946,18563322,18505931,18499700,18414412,18404674,18253830,18252747,18204201,18202356,18198215,18049164,18038118,17991895,17965595,17934516,17931718,17893234,17716861,17698033,17673620,17657744,17538945,17532557,17492476,17470536,17322882,17312023,17178861,17093909,17085482,17081983,17081533,17053888,17030625,17015478,16998846,16963560,16960727,16916647,16897079,16861352,16801630,16769694,16537562,16497664,16424002,16423997,16344560,16322686,16314526,16053511,15956212,15870198,15799776,15790807,15762053,15755728,15735013,15696166,15657147,15635413,15526354,15375672,15340041,15302935,15289832,15220328,15087453,15057824,14978102,14760703,14734556,14702039,14684836,14583449,14577574,14559786,12804601,12789259,12738984,12712445,12711675,12637155,12594811,12576480,12548018,12538344,12530095,12496760,12477932,12354094,12145218,11932749,11847125,11834837,11222358,10947852,10888886,10753866,10615135,10449766,10444590,10325416,9333948,9302295,7760804,3210246,1594447,12867029,18158899,16169070,15120635,15688037,12171929,20875141,20620135,20840813,19943104,12473678,16227093,16357870,17067458,18931722,19236003,19279403,19394279,19531770,19615732,19896490,19936946,20044957,20071334,20071580,20081831,20093774,20147412,20228804,20335008,20381114,19932585,20354000,17124180,20592467,20613874,19800870,20920981,20428781,20588031,20192566,20192608,20398055,20593030,20570896,19763880 2301221,2301220 1786 NM_001379,NM_001130823,AC010077,AC011511,AC020931,AF169120,CH471106,AB209413,AF180682,AK122759,AY927518,BC092517,BC126227,BC144093,CR594546,CR598167,CR607451,CR610482,CR623729,DA653750,X63692,NG_028016 NP_001370,NP_001124295,AAD54507,AAD51619,EAW84079,EAW84080,BAD92650,AAF23609,BAG53712,AAI26228,AAI44094,CAA45219,P26358,Q59FP7,AAH92517 Hs.202672 AIM|CXXC9|DNMT|FLJ16293|MCMT|MGC104992 CXXC finger protein 9|CXXC-type zinc finger protein 9|DNA (cytosine-5)-methyltransferase 1|DNA MTase HsaI|DNA methyltransferase 1|DNA methyltransferase HsaI|m.HsaI protein-coding 1606038 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 12406579,12383256,12359337,12145218,11934864,11834837,11350943,10433969,10325416,9662389,8889548,7566098,12867029,15688037,15105426,20620135,21067377,20381114,20426865,20467490,12138111,17713477,19468253,19451595,19246518,19234465,19211935,19161160,19139273,19124506,19070387,19064572,18829110,18391951,18381459,18253830,17998942,17890317,17688412,17548962,17538945,17081983,17081533,16998846,16983096,16769694,16682412,16357870,16173030,15854647,15799776,15721400,15616584,14752048,12738984,12711675,12496760,12481029,12477932,12777184,16331260,17175537,19394279,19620278,19625655,19638978,19680556,19786833,19798101,19834512,19921333,20128888,20147412,20223770,20227382,20228804,20381446,20570913,20593030,20560050,19763880,20630873,16322236,20473858,20838592,21102463 1788 NM_175629,NM_022552,NM_153759,NM_175630,AB076659,AC012074,AF503864,CH471053,AB208833,AF067972,AF331856,AF480163,AK025230,BC018214,BC023612,BC032392,BC043617,BC051864,CB852889,CR618290,CR625891,W76111 NP_783328,NP_072046,NP_715640,NP_783329,AAY14761,EAX00727,EAX00728,BAD92070,AAD33084,AAL57039,AAN40037,AAH18214,AAH23612,AAH32392,AAH43617,AAH51864,Q59HC6,Q6PJ37,Q86TE8,Q8WVA9,Q9Y6K1,ABZ92480 Hs.515840 DNMT3A2|M.HsaIIIA DNA (cytosine-5)-methyltransferase 3A|DNA MTase HsaIIIA|DNA cytosine methyltransferase 3A2|DNA methyltransferase HsaIIIA|OTTHUMP00000201149|OTTHUMP00000201150 protein-coding 1351585 DNMT3AP1 DNA methyltransferase 3A pseudogene 1 1304004 18683034,15203217 1304004 130802 NG_004680,AC009474,BN000391 pseudo 1606037 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq] 10647011,10433969,11735126,16357870,16682412,10555141,11102980,18029348,19470733,19326430,19246518,19211935,19124506,19064572,19024105,18829110,18762900,18683034,18662374,18639864,18567530,18563322,18544619,18499700,18455294,18452947,18437543,18414412,18413740,18407600,18367714,18336997,18268116,19517237,20381114,20426865,20819778,20960050,21041608,20398054,12777184,16331260,17067458,19019622,19107573,19451595,19465161,19465937,19482874,19502167,19576953,19620278,19626461,19680556,19696477,19777235,19786833,19789190,19798101,19825994,19843671,19854132,19896490,20127025,20453000,20480259,20514408,20952535,19932585,20375073,20381446,18253830,18221536,18097598,18029387,18023104,18006804,17998942,17991895,17890317,17705213,17688412,17538945,17532557,17369845,17353906,17318376,17303076,17277043,17149367,17081533,17017004,16951151,16951144,16920385,16773201,16543361,16501248,16501171,16481298,16463117,16328059,16211278,16194411,16012746,16004934,15962389,15854647,15721400,15580563,15528220,15490234,15467427,15375549,15217506,15148359,15120635,14702039,14559786,14555514,12925568,12879017,12867029,12738984,12601140,12477932,12359337,12239717,12208751,12202768,12145218,12110732,12015329,11934864,11932749,11780052,11350943,11076863,10588719,10325416,9662389,14752048,15688037,15105426,20428781,20398055,20593030,19763880 1789 NM_175848,NM_175849,NM_175850,NG_007290,AL035071,CH471077,AB208880,NM_006892,DQ321787,L32168,AF129267,AF129268,AF129269,AF156487,AF156488,AF176228,AF331857,AK001191,AK295176,AK299776,AK299821,AK299915,AK300857,CR609754 NP_008823,NP_787044,NP_787045,NP_787046,CAB53069,CAB53070,CAB53071,EAW76350,EAW76351,EAW76352,EAW76353,EAW76354,EAW76355,EAW76356,BAD92117,ABC48951,Q2PJS8,Q59H79,Q9UBC3,AAI11934,AAI18503,AAD31432,AAD31433,AAD31434,AAD53062,AAD53063,AAF04015,AAL57040,BAG50865,BAG58185,BAG61659,BAG61690,BAG61753,BAG62507 Hs.713611,Hs.643024 ICF|M.HsaIIIB DNA (cytosine-5)-methyltransferase 3B|DNA MTase HsaIIIB|DNA methyltransferase HsaIIIB protein-coding 1343645 DNMT3L DNA (cytosine-5-)-methyltransferase 3-like CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases. This protein is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, this protein does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and it is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternative splicing results in two transcript variants. An additional splice variant has been described but its biological validity has not been determined. [provided by RefSeq] 1580863 16829525,20428781,20460473,16543361,12202768,11934864,16780588,19064572,17965599,17713477,17687327,16575165,16211598,16189514,15489334,15105426,14735494,12481029,12477932,12237941,12177302,12044346,10857753,10830953,20670142,12777184,19246518,19625766,19921333,20838592,20630873,20593030 29947 NM_175867,AP001059,AP001060,AP001753,NM_013369,CH471079,AF194032,BC002560,HC006936 NP_037501,NP_787063,BAA95556,EAX09445,AAF05812,AAH02560,Q9UJW3,ABM83103,ABM86298,CBH19273 Hs.592165 MGC1090 DNA (cytosine-5)-methyltransferase 3-like|OTTHUMP00000109517|cytosine-5-methyltransferase 3-like protein|human cytosine-5-methyltransferase 3-like protein protein-coding 1313575 DNPEP aspartyl aminopeptidase The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. [provided by RefSeq] 1580863 9632644,17353931,16189514,15489334,14702039,12895663,12477932,12413488 23549 AC053503,NM_012100,AX002997,AX002999,CH471063,AF005050,AK001777,AK001977,AK021871,AK023005,AK301919,AK302809,BC000653,BC003040,BC004854,CR590433,CR593910,CR595452,CR599387,CR601156,CR601748,CR602255,CR603497,CR605917,CR607064,CR608875,CR611309,CR614945,CR616703,CR620362,CR620682,CR620845,CR623295,CR624047,CR605526 NP_036232,AAY15050,EAW70728,EAW70729,EAW70730,EAW70731,EAW70732,EAW70733,EAW70734,EAW70735,EAW70736,EAW70737,EAW70738,AAD01211,BAA91903,BAA92014,BAB13923,BAH13586,BAH13808,AAH00653,AAH04854,Q53SB6,Q9BSS9,Q9HAC6,Q9NV55,Q9ULA0,ABM82863,ABM86050 Hs.258551 ASPEP|DAP OTTHUMP00000064851|OTTHUMP00000064852|OTTHUMP00000064853|aspartyl aminopeptidase protein-coding 1312854 DNTT deoxynucleotidyltransferase, terminal This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq] 1580863 2863268,17663723,16885057,15489334,15356150,15198352,12960389,12786946,12477932,11974916,11554927,11473582,10570175,9787156,9742508,9373149,8778025,8163485,8125298,6091113,6087320,3862101,3579900,3524991,3467897,3395350,2833741,18429817,16385451 1791 NM_004088,NM_001017520,AL136181,CH471066,M21195,AB046378,AK130771,AK223317,AK313615,BC012920,CR597750,K01919,M20703,M22968,M26144 NP_004079,NP_001017520,CAH72984,EAW49979,AAA61137,BAB72001,BAD97037,AAH12920,AAA61136,AAA53100,AAA74588,P04053,Q14182,ABM82391,ABM85571 Hs.534206 TDT DNA nucleotidylexotransferase|nucleosidetriphosphate:DNA deoxynucleotidylexotransferase|terminal addition enzyme|terminal deoxynucleotidyltransferase|terminal deoxyribonucleotidyltransferase|terminal transferase protein-coding 1322651 DNTTIP1 deoxynucleotidyltransferase, terminal, interacting protein 1 DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM] 1580863 17663723,17081983,15489334,12766061,12477932,11780052,11473582,17207965 116092 NM_052951,AL050348,CH471077,AB035676,AI538721,AK314003,BC009535,BC024290,BG720866,CD678110,CR616271,CR620179 NP_443183,EAW75810,EAW75811,EAW75812,BAB62888,BAG36715,AAH09535,AAH24290,Q9H147,ADQ32198 Hs.472852 C20orf167|Tdif1|dJ447F3.4 OTTHUMP00000031159|OTTHUMP00000031160|TdT binding protein|deoxynucleotidyltransferase terminal-interacting protein 1|tdT-interacting factor 1|terminal deoxynucleotidyltransferase-interacting factor 1 protein-coding 1604625 DNTTIP2 deoxynucleotidyltransferase, terminal, interacting protein 2 19453261,16762320,15047147,14702039,12786946,12477932,9373149,1504714,8125298,16344560,20887155 30836 NM_014597,AL049796,CH471097,AB046574,AK123702,AK222722,AK292379,AK302909,AY336729,AY394925,BC001784,BC020634,BC047688,BC063040,BC130622,BX648593,CR609283,U15552,AA832262,AI436814,AK308808,AU134239 NP_055412,CAI21812,EAW73063,EAW73064,BAD08331,BAD96442,BAF85068,BAH13840,AAR02407,AAQ95169,AAH47688,AAI30623,AAA50601,Q5QJE6,ADR83408 Hs.85769,Hs.601998 ERBP|FCF2|FLJ98849|HSU15552|LPTS-RP2|MGC163494|RP4-561L24.1|TdIF2 LPTS-interacting protein 2|OTTHUMP00000011922|acidic 82 kDa protein mRNA|acidic 82 kDa protein mRNA (HSU15552)|deoxynucleotidyltransferase terminal-interacting protein 2|estrogen receptor binding protein|estrogen receptor-binding protein|tdT-interacting factor 2|terminal deoxynucleotidyltransferase-interacting factor 2 protein-coding 731423 DOC2A double C2-like domains, alpha There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. [provided by RefSeq] 1580863 7826360,15489334,14702039,12477932,9804756,9736751,9195900,9115738,8554557,18354201,19242545,19736351,20489179,20677014 8448 AC093512,CH471238,AK090829,AK293651,AK309158,BC041769,BC055284,BC063436,NM_003586,CR592793,CR597115,CR599030,CR612455,D31897 NP_003577,EAW79942,EAW79943,EAW79944,EAW79945,EAW79946,EAW79947,EAW79948,EAW79949,EAW79950,EAW79951,EAW79952,BAG57103,AAH41769,AAH55284,AAH63436,BAA06695,Q14183 Hs.355281 Doc2 doc2-alpha|double C2-like domain-containing protein alpha protein-coding 732162 DOC2B double C2-like domains, beta There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq] 1580863 8902635,12621583,10488064,9804756,9195900,9115738,8554557,7826360,20379614,8889548 8447 NM_003585,AC129894,CH471108,D70830,AC108004,AF240580,BM713588,DN831650,NG_021143 NP_003576,EAW90677,BAA11107,Q14184,AAI52721,AAI53025 Hs.551705 DOC2BL doc2-beta|doc2b|double C2-like domain-containing protein beta|double C2-like domains, beta-like protein-coding 2301500 DOC2BL double C2-like domains, beta-like 653051 XM_925795 XP_930888 Hs.551705 protein-coding 3208070 DOC2GP double C2-like domains, gamma, pseudogene 15496913,20210993 390213 AP003385,CH471076,DY654453,DY654463,DY654465,NR_033791 EAW74657 Hs.523838 pseudo 1315227 DOCK1 dedicator of cytokinesis 1 This gene product binds to the SH3 domain of CRK protein. It may regulate cell surface extension and may have a role in the cell surface extension of an engulfing cell around a dying cell during apoptosis. [provided by RefSeq] 1580863 11240126,11171081,11146654,9548247,8662907,8657152,11595183,10559471,14645848,11703939,11369773,9808620,12134158,15247908,17474147,9548255,8661160,19118547,19004829,18768751,18725541,18682798,18596235,17764157,17173036,16964243,16495483,16440329,16213822,16025104,15723800,15700267,14702039,14638695,12879077,12615911,12477932,12432077,11773052,16385451,17362836,17643375,19803396,19851296,20198315,20237902,20379614,20829512,20016009,20562859,20936779 1793 NM_001380,AL157711,AL355316,AL359094,AL390920,AL590372,AL607029,BX470155,BX470201,CH471066,AK091673,AL157538,AW298149,BC084559,BC144632,BC146857,BU556771,BX482033,BX648342,CF455012,CX163251,D50857 NP_001371,CAH71463,CAI16871,CAH71477,CAH73231,CAI15329,CAI22477,CAH72560,EAW49194,AAI46858,BAA09454,Q14185 Hs.159195 DOCK180|ced5 180 kDa protein downstream of CRK|DOwnstream of CrK|dedicator of cyto-kinesis 1|dedicator of cytokinesis protein 1 protein-coding 1348168 DOCK10 dedicator of cytokinesis 10 1580863 18835169,18499258,17081983,16189514,15815621,15710388,15489334,14702039,12477932,12432077,12168954,9734811 55619 NM_014689,AC011739,AC017095,AC093806,CH471063,AB014594,AB074179,AF250396,AK000227,AK001253,AK293847,AK293879,AK307914,BC015018,CR749492,DN991477,EG328193,EG328223,EG328495,EG328518,EG328531,EG328562,EU236710 NP_055504,AAX88891,EAW70832,EAW70833,EAW70834,EAW70835,BAA31669,BAE45740,AAQ14262,BAA91022,BAA91583,BAG57245,BAG57268,AAH15018,CAH18316,ABY70713,Q3LIC8,Q4W4X9,Q4ZG60,Q68DA4,Q96BY6 Hs.46578 DKFZp781A1532|DRIP2|Nbla10300|ZIZ3 dedicator of cytokinesis protein 10|dopamine receptor interacting protein 2|protein zizimin 3|zizimin-3|zizimin3 protein-coding 1348616 DOCK11 dedicator of cytokinesis 11 1580863 16968698,14702039,12477932,12432077 139818 NM_144658,AC007021,AL391237,AL391280,CH471161,AA490413,AI361832,AI936555,AK054649,AK056684,AK124735,AK125641,AW968823,AY692226,BC035593,BC042053,BC047713,BF513250 NP_653259,CAI41407,CAI41411,EAW89895,BAG51406,BAB71253,BAC86230,AAU04438,AAH47713,Q5JSL3,AAI56531 Hs.368203 ACG|FLJ32122|FLJ43653|ZIZ2|bB128O4.1 Activated Cdc42-associated guanine nucleotide exchange factor, ACG|bB128O4.1.1 (novel protein)|dedicator of cytokinesis protein 11|zizimin-2|zizimin2 protein-coding 1348269 DOCK11P1 dedicator of cytokinesis 11 pseudogene 1 414888 1323174 DOCK2 dedicator of cytokinesis 2 The DOCK2 gene encodes a hematopoietic cell-specific CDM family protein that is indispensable for lymphocyte chemotaxis.[supplied by OMIM] 1580863 10559471,12176041,12134158,11518968,14737186,18662984,18464913,18056264,17015707,16344560,15592455,15489334,15144186,12829596,12477932,12432077,12393632,12191913,9039502,15723800,19729484,20201926,20350533,20379614,20412587,19913121,20628086 1794 D86964,DB145764,AC008449,AC008648,AC008680,AC010303,AC026695,CH471062,AK128107,AK128449,AK130744,BC016996,BC035613,BC084556,BC104900,BC113457,BC143358,BF110460,NM_004946 BAA13200,Q5XG91,Q6ZNS5,NP_004937,EAW61491,EAW61492,BAG54631,BAG54676,BAC85420,AAH16996,AAH84556,AAI04901,AAI13458,Q92608 Hs.586174 FLJ46592|KIAA0209 dedicator of cyto-kinesis 2|dedicator of cytokinesis protein 2 protein-coding 1315429 DOCK3 dedicator of cytokinesis 3 1358592,1580863 17474147,19352218,19058789,18716063,15647471,14569117,12477932,12432077,12093789,11696419,10854253,9205841,20032819,20307617,20368433,20379614 1358592 1795 NM_004947,AC092037,AC096886,AC096920,AC099047,AC107313,AC126120,AC131013,AC139619,AC140120,AC144634,CH471055,AB002297,AK310984,AY145303,AY254099,BC037933,BC045793,BC131746,NG_028012 NP_004938,EAW65134,EAW65135,EAW65136,EAW65137,BAA20759,AAN12301,AAP80572,AAI31747,Q8IZD9,AAI56340,AAI57128 Hs.476284 KIAA0299|MOCA|PBP dedicator of cyto-kinesis 3|dedicator of cytokinesis protein 3|modifier of cell adhesion|presenilin-binding protein protein-coding 1350295 DOCK4 dedicator of cytokinesis 4 This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq] 1580863 16464467,17353931,19528233,19401682,19383911,18641688,18459162,17027967,16344560,16213364,14702039,12853948,12628187,12477932,12432077,9872452,19807924,20346443,20379614 9732 NM_014705,AC003077,AC003080,AC004001,AC004111,AC005047,CH236947,CH471070,AB018259,AF085922,AK055497,AK091557,AK095906,AK098050,AK294722,AK294820,AK309605,AY233380,BC117688,BC117689,BC117694,BM126591,BM545903,CR622980,DA646980,NG_028060 Q149N2,NP_055520,AAB83946,AAS07431,EAL24377,EAW83451,EAW83452,EAW83453,EAW83454,EAW83455,EAW83456,BAA34436,BAC03696,BAC05221,BAH11861,BAH11895,AAO73565,AAI17689,AAI17690,AAI17695,Q149N5,Q149N6,Q75MU6,Q8N1I0 Hs.654652 FLJ34238|KIAA0716|MGC134911|MGC134912 OTTHUMP00000207227|OTTHUMP00000207500|OTTHUMP00000207611|dedicator of cytokinesis protein 4 protein-coding 1315737 DOCK5 dedicator of cytokinesis 5 18029348,19004829,16421571,15489334,14702039,12477932,12432077,10737800 80005 AK022242,AC041005,AC091185,CH471080,AK024687,AK026663,AK123607,AK126249,AL832744,BC011877,BC015352,BC041761,BC057384,BC137175,BC137176,BF884637,BM450222,BX648352,CR627414,CR749353,CR933718,NM_024940 NP_079216,EAW63593,EAW63594,EAW63595,BAB14962,BAC85660,BAC86503,AAH11877,AAH41761,AAI37176,AAI37177,CAH10503,CAH18206,Q5H9P3,Q68DL4,Q9H7D0,CAI46248 Hs.195403 DKFZp451J181|DKFZp779M164|DKFZp781J211 dedicator of cytokinesis protein 5 protein-coding 1315180 DOCK6 dedicator of cytokinesis 6 1580863 15489334,14702039,12477932,12432077,10718198 57572 NM_020812,AC009000,AC011472,CH471106,AB037816,AK022412,AK295664,AK316063,BC008335,BC015424,BC040938,BC051330,BC095483,BC146786,BI820302,BI822534,CV571923 NP_065863,EAW84179,EAW84180,EAW84181,EAW84182,EAW84183,EAW84184,BAA92633,BAG58526,BAH14434,AAH08335,AAH51330,AAI46787,Q96HP0 Hs.591002 ZIR1 dedicator of cytokinesis protein 6 protein-coding 1352133 DOCK7 dedicator of cytokinesis 7 1580863 19913121,20628086,16982419,19240061,19060911,18426980,18193044,16710414,15963462,15489334,15324660,14702039,14676191,12477932,12432077,11329013,20972250,11214970,17148452,17643375,18193043,19060906,19615732,20056645,20379614,20864672 85440 AC096946,AC103923,AL138847,AL451044,AB051558,AK022097,AK055296,AK055401,AK055493,AK055905,AK091479,AK125049,AK292640,AK299737,BC016392,BC018075,BC018076,BC041813,BC112387,BG190976,BG205481,BG207092,BU943181,BX485492,DQ118679,DQ118680,DQ309763,DQ341187,NM_033407 NP_212132,CAI13104,CAI13105,BAB21862,BAB70917,BAB70933,BAB71042,BAG52372,BAC86032,BAF85329,BAG61632,AAH16392,AAI12388,AAZ38451,AAZ38452,ABC33725,ABC68221,Q96N67,Q96NI0,AAI72250,CAI22995,CAI22996 Hs.726116 KIAA1771|ZIR2 dedicator of cytokinesis protein 7 protein-coding 1603953 DOCK8 dedicator of cytokinesis 8 DOCK8 is a member of the DOCK180-related (DOCK1; MIM 601403) protein family (Ruusala and Aspenstrom, 2004 [PubMed 15304341]).[supplied by OMIM] 18029348,18060736,15489334,15304341,15164053,14702039,12477932,12432077,11214971,10729223,8889548,16344560,16391785,19640199,19776401,20004785,20379614,20596660 81704 NM_203447,AL158832,AL161725,CH471071,AB191037,AF194407,AK024436,AK074081,AK090429,AK093572,AK293353,AK310555,AL583913,AY117695,BC019102,BC030518,BC043265,BC045629,BC112894,BC130518,BC143929,BG388288,BU532484,CA503173,DR004867,AL832270,HM991479,HM991480,NM_001193536,BM680510,DB147029,NG_017007,NM_001190458 NP_982272,CAM22535,CAM22536,CAM22537,CAM13232,CAM13233,CAM13234,EAW58825,EAW58826,EAW58827,EAW58828,EAW58829,EAW58830,BAE45254,AAG42221,BAB15726,BAB84907,BAC03410,BAC04199,BAG56869,CAC29497,AAH19102,AAH45629,AAI12895,AAI30519,AAI43930,Q86XD0,Q8N227,Q8NF50,CAI46160,ADK91777,ADK91778,NP_001180465,NP_001177387 Hs.132599 FLJ00026|FLJ00152|FLJ00346|MRD2|ZIR8 1200017A24Rik|OTTHUMP00000107257|OTTHUMP00000214870|dedicator of cytokinesis protein 8 protein-coding 1348065 DOCK9 dedicator of cytokinesis 9 1580863 18729074,18056264,17935486,17728666,16344560,15489334,15057823,14702039,12477932,12432077,12172552,12168954,11991713,10470851,8889548,19745154,19809089,20379614 23348 NM_001130048,NM_001130049,NM_001130050,AL139084,AL161420,AL391122,CH471085,NM_015296,AB028981,AF085864,AF339774,AF527605,AK022011,AK090793,AK122987,AK126492,AK127215,AK127329,AK127508,AK294573,AK294705,AK294770,AK300298,AK300331,AW450751,BC043506,BC053620,BC136274,BC146814,BC171753,BM968821,BX648707,CR600775,CR936820,DB277756,CR749658 NP_001123521,NP_001123522,NP_056111,NP_001123520,CAI13370,CAI13372,CAI39569,CAI39570,CAI39571,CAI39572,CAI39574,CAI39575,CAI39576,CAI39577,EAX08994,EAX08995,EAX08996,EAX08997,EAX08998,EAX08999,EAX09000,EAX09001,EAX09002,EAX09003,EAX09004,EAX09005,BAA83010,AAM90306,BAG54337,BAG54454,BAC86933,BAH11816,BAH11852,BAH11878,BAH13255,BAH13261,AAH43506,AAH53620,AAI36275,AAI46815,AAI71753,Q5JUD2,Q5JUD3,Q5JUD7,Q68CY0,Q6ZSL5,Q7Z6H4,Q9BZ29,CAH18452,Q5JUD8 Hs.596105 DKFZp686C11110|DKFZp686D2047|DKFZp686N04132|FLJ11949|FLJ16744|FLJ44528|FLJ45282|FLJ45601|KIAA1058|KIAA1085|RP11-155N3.2|ZIZ1|ZIZIMIN1 OTTHUMP00000018601|cdc42 guanine nucleotide exchange factor zizimin-1|dedicator of cytokinesis protein 9 protein-coding 1606491 DOHH deoxyhypusine hydroxylase/monooxygenase This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants. 16371467,17213197,16452303,17476569,16533814,15489334,15057824,12477932,19706422 83475 CH471139,AW195139,BC002817,BC009863,BG491509,BU624567,NM_001145165,NM_031304,AC005551,AC005787,AC093052 EAW69316,EAW69317,AAH02817,AAH09863,Q9BU89,NP_001138637,NP_112594,AAC33193 Hs.515064,Hs.609012 HLRC1|MGC4293|hDOHH HEAT-like (PBS lyase) repeat containing 1|HEAT-like repeat-containing protein 1|deoxyhypusine dioxygenase|deoxyhypusine hydroxylase|deoxyhypusine monooxygenase protein-coding 1319871 DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1) Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. Docking protein 1 contains a putative pleckstrin homology domain at the amino terminus and ten PXXP SH3 recognition motifs. Docking protein 2 binds p120 (RasGAP) from CML cells. It has been postulated to play a role in mitogenic signaling. [provided by RefSeq] 1580863 10799545,9008160,19481542,19481264,19299694,18353552,18156175,17092301,16823827,16537894,16338067,16177091,16094384,15815621,15592455,15574499,15570572,15546884,15541476,15489334,15345598,15144186,14702039,14647425,12606711,12595900,12522270,12477932,12087092,11927552,11825908,11551902,11278335,11071635,11042170,10940083,10852966,10823839,10822173,10669731,10585470,10567556,10202139,9790776,9737977,9373149,9221755,9110174,9008161,8619474,8152267,8125298,16344560,12660731,16153436,19682241,20139980 1796 AK300097,AK314678,BC111055,BC114440,BC114497,CR595209,CR608499,CR615375,CR617916,U70987,BQ575925,DA382785,DA599419,NM_001197260,NM_001381,AC005033,CH471053,AF035299,AF180527,AK055944,AK127127,AK127656,AK222883,AK296154 BAG61898,AAI11056,AAI14441,AAI14498,AAC51127,Q14CB2,Q2TA81,Q53GP8,Q99704,NP_001184189,NP_001372,AAX93224,EAW99612,EAW99613,EAW99614,AAB88182,AAF19167,BAG51595,BAG54440,BAG54544,BAD96603,BAG58893 Hs.103854 MGC117395|MGC138860|P62DOK Downstream of tyrosine kinase 1|docking protein 1|docking protein 1 (downstream of tyrosine kinase 1)|p62(dok)|pp62 protein-coding 1322166 DOK2 docking protein 2, 56kDa The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq] 1580863 17043143,17353931,10799545,19299694,17092301,16189514,16177091,16094384,15831486,15592455,15489334,15144186,14647425,14645010,12777393,12665569,12522270,12477932,11689432,11470823,11254695,10856136,10822173,10508618,9764820,9478921,16823827,20139978,21078907,21116278,19913121,20628086,10428862,19786546,20139980 9046 NM_003974,AC087363,CH471080,AF034970,AK226110,AK292126,AK296671,AL545478,BC032623,BQ067133,CB270269,CR597117,CR602622,CR611181,CR626090 NP_003965,EAW63739,AAC13265,BAF84815,BAG59268,AAH32623,O60496,ABM92167,ABM87807 Hs.71215 p56DOK|p56dok-2 docking protein 2|downstream of tyrosine kinase 2|p56(dok-2) protein-coding 1323508 DOK3 docking protein 3 10567556,16436051,16344560,15489334,14993273,14702039,12595900,12477932,11470823,10733577,19682241,20139980 79930 NM_001144876,NM_001144875,NM_024872,AC145098,CH471195,AK026223,AK097258,AL833678,BC004564,BC004867,CR595723,CR626301,DA674730,DA931137 NP_001138348,NP_001138347,NP_079148,EAW84982,EAW84983,EAW84984,BAB15399,BAC04986,AAH04564,AAH04867,Q7L591 Hs.720849 DOKL|FLJ22570|FLJ39939 Dok-like protein|OTTHUMP00000223810|OTTHUMP00000223816|docking protein 3|downstream of tyrosine kinase 3 protein-coding 1320786 DOK4 docking protein 4 19073520,17443497,16820412,15489334,14702039,12730241,12595900,12477932,11470823,10493829,19494292 55715 NM_018110,AC004382,AC009052,CH471092,AF466369,AK001350,AK307270,AK315426,AW163719,BC001540,BC003541,CR608867,CR610258,CR619149,CR623999 NP_060580,AAC24310,EAW82932,EAW82933,EAW82934,AAL74195,BAA91642,BAG37814,AAH01540,AAH03541,Q8TEW6,ABM83934,ABM87253 Hs.279832 FLJ10488 IRS-5|IRS5|docking protein 4|downstream of tyrosine kinase 4|insulin receptor substrate 5 protein-coding 1343098 DOK5 docking protein 5 The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. In contrast to other DOK family proteins, this protein does not interact with RASGAP. [provided by RefSeq] 1580863 16647839,16189514,15489334,12730241,12595900,12477932,12454490,11780052,11470823,15286081,20734064,20187968,20215924 55816 NM_018431,AL035667,AL118501,AL162292,CH471077,AF132732,AF466368,AK313222,AL050069,BC008992,BI758267,BI916998,CR601525,CR606944,CR612289 NP_060901,CAI19415,CAI19416,CAI16465,EAW75570,EAW75571,AAF66443,AAL74194,CAB43255,AAH08992,Q9P104 Hs.656582 C20orf180|MGC16926 IRS-6|IRS6|docking protein 5|downstream of tyrosine kinase 5|insulin receptor substrate 6 protein-coding 1346452 DOK6 docking protein 6 DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM] 12477932,14702039,20210798,15489334,15286081,20548944,20379614 220164 NM_152721,AC026585,AC068254,AC090231,AC119868,CH471117,AK057795,AL512695,AY599248,BC008583,BC019045,BC096744,BX280184,DB480182 NP_689934,EAW66514,BAB71577,AAT09770,AAH08583,AAH19045,AAH96744,Q6PKX4 Hs.278285 DOK5L|HsT3226|MGC20785 docking protein 5-like|docking protein 6|downstream of tyrosine kinase 6 protein-coding 1604958 DOK7 docking protein 7 DOK7 is a muscle protein essential for neuromuscular synaptogenesis (Okada et al., 2006 [PubMed 16794080]).[supplied by OMIM] 20012313,19244212,18626973,18165682,18161030,17439981,16917026,16794080,16344560,15489334,14702039,12477932,19261599,8889548,20610155,20371544,20554332,20603078 285489 BC043568,BC062369,BC131544,BC141852,DA205628,BM684814,NG_013072,NM_001164673,NM_173660,AL590235,CH471131,AB220918,AK075037,AK091037,AK096456 AAH43568,AAH62369,AAI31545,AAI41853,Q18PE1,Q8N1M3,NP_001158145,NP_775931,CAM21455,EAW82463,BAE96739,BAC11367,BAC03572,BAC04795 Hs.122110,Hs.701584 C4orf25|CMS1B|Dok-7|FLJ33718|FLJ39137|FLJ90556 OTTHUMP00000216837|downstream of tyrosine kinase 7|protein Dok-7 protein-coding 1321943 DOLK dolichol kinase Dolichyl monophosphate is an essential glycosyl carrier lipid for C- and O-mannosylation and N-glycosylation of proteins and for biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum (ER). Dolichol kinase, or TMEM15, catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate biosynthesis (Fernandez et al., 2002 [PubMed 12213788]).[supplied by OMIM] 1580863 12975309,16923818,12213788,17273964,15489334,15164053,12477932,10470851 22845 NM_014908,AL672142,CH471090,AB029017,AK300180,AY358759,BC035556,BF056649,CR612533,CR621676,CR625855,NG_017009 NP_055723,CAI10844,EAW87849,BAA83046,BAG61959,AAQ89119,AAH35556,Q9UPQ8 Hs.531563 CDG1M|DK|DK1|KIAA1094|SEC59|TMEM15 SEC59 homolog|dolichol kinase|dolichol kinase 1|transmembrane protein 15 protein-coding 1316643 DOLPP1 dolichyl pyrophosphate phosphatase 1 1580863 6243292,16344560,15489334,15164053,12477932,12198133,10369878 57171 NM_001135917,AL592211,CH471090,Y17455,Y17456,AK290713,AK293627,NM_020438,BC009493,BC022553,BC033686,BC040152,BC067858,CR597048,CR599083,DA590931,AY189675 NP_065171,NP_001129389,CAI12369,CAQ10247,EAW87867,EAW87868,EAW87869,EAW87870,EAW87871,EAW87872,CAB44348,CAB44349,BAF83402,BAG57084,AAO34712,AAH09493,AAH33686,AAH40152,Q86YN1,Q8IUV4,Q9Y3G1,Q9Y3G2 Hs.21701 LSFR2 dolichyldiphosphatase 1|linked to Surfeit genes in Fugu rubripes 2 protein-coding 1348619 DOM3Z dom-3 homolog Z (C. elegans) This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq] 1580863 15231747,19204726,15489334,14667819,14656967,14574404,12477932,10686478,10072631,9799600,19913121,20628086 1797 NM_005510,NG_000013,NG_004658,NG_005163,AF019413,AL049547,AL645922,AL662849,AL844853,CH471081,CR753822,CR753845,CR759782,AF059252,AF059253,AF059254,BC009344,BC019083,BC030235,BC050618,BC058885,BC071651,CR596930,CR602638,CR622082,CR622492 CAQ10912,NP_005501,AAB67983,CAB89305,CAB89306,CAQ09281,CAI17465,CAI41864,EAX03558,EAX03559,EAX03560,EAX03561,EAX03562,EAX03563,EAX03564,EAX03565,CAM26055,CAQ07122,AAC78603,AAC78604,AAC78605,AAH09344,AAH19083,O77932,ABM83967,ABM87283 Hs.153299 DOM3L|NG6|RAI1 OTTHUMP00000174711|OTTHUMP00000216105|protein Dom3Z protein-coding 1603397 DONSON downstream neighbor of SON This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq] 15489334,14759258,14702039,12477932,12036298,10950926,10773462,20942939,17567994 29980 NM_017613,AP000304,CH471079,AF232673,AF232674,AF232675,AK001274,AK074964,BC048266,CR590888,CR598801 NP_060083,EAX09812,AAF72947,AAF72948,AAF72949,BAC11320,AAH48266,O46786,Q9NYP3 Hs.436341 B17|C21orf60|C2TA|DKFZp434M035 MHC class II transactivator type I|OTTHUMP00000068643|OTTHUMP00000108288|OTTHUMP00000206684|OTTHUMP00000206685|protein downstream neighbor of Son protein-coding 1313616 DOPEY1 dopey family member 1 16301316,16303751,14702039,12477932,10931277,10470851 23033 NM_001199942,NM_015018,AL121716,AL139333,CH471051,AB029040,AK027030,AK092929,AK094766,AL050080,BC036257,BC048342,BC144545,BC150619,BX648667,BC144544 NP_001186871,NP_055833,CAI42425,CAI42426,CAI15284,CAM21599,EAW48672,EAW48673,EAW48674,EAW48675,EAW48676,BAA83069,BAB15631,BAG52924,CAB43259,AAH48342,AAI50620,Q5JWR5,Q5TA12,AAI44545 Hs.520246,Hs.708998 FLJ35610|KIAA1117|dJ202D23.2 OTTHUMP00000017983|homolog of yeast DOP1|protein dopey-1 protein-coding 1314515 DOPEY2 dopey family member 2 10950924,19460634,16303751,16276086,12767918,12477932,12168954,10931277,10830953,10231032,9503011,16301316,20379614 9980 NM_005128,AP000689,AP000690,AP000691,AP000692,AP001725,CH471079,AB023150,AJ001857,AJ237839,AK025095,AK026478,BC012791,CR613258,W15495 BAA89431,NP_005119,BAA95548,EAX09743,EAX09744,BAA76777,CAB41415,AAH12791,Q9Y3R5,AAI56375 Hs.204575 21orf5|C21orf5 homolog of yeast DOP1|pad-1-like|protein dopey-2 protein-coding 1315376 DOT1L DOT1-like, histone H3 methyltransferase (S. cerevisiae) 1580863,1359080 16636056,17332896,19266077,19443658,19734945,19799466,19864429,20203130,20208522,12123582,11347906,18449190,18391950,18285465,17855633,17094487,15851025,14702039,12693554,12628190,12477932,17707234,20546612,19491102,20734064 1359080 84444 NM_032482,AC004490,AC005257,AC005263,AC093456,CH471139,AB058717,AF509504,AK074120,AK095280,AL080221,BC021037,BC032803 NP_115871,AAC08316,EAW69408,EAW69409,EAW69410,EAW69411,BAB47443,AAM88322,BAB84946,Q8TEK3,AAI56104 Hs.713641 DKFZp586P1823|DOT1|KIAA1814|KMT4 DOT1-like protein|H3-K79-HMTase|OTTHUMP00000197349|histone H3-K79 methyltransferase|histone methyltransferase DOT1L|histone-lysine N-methyltransferase, H3 lysine-79 specific|lysine N-methyltransferase 4 protein-coding 1349923 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq] 1580863 8179616,12872255,16344560,15489334,14702039,12855228,12618564,12592703,12477932,20693288,17207965,12417423,11805072,10024536,9451016,9373149,8889548,8244387,8125298,3038274,19519349,19549906,21048031 1798 G29019,AA833740,AK095122,AK095718,AK128572,AK225994,AK301973,AK312783,BC000325,BC047771,BM982950,BT006802,CR603487,DA023424,Z82022,CH471065,NM_001382,NG_008918,AF070443,AP003391 EAW67452,EAW67453,EAW67454,EAW67455,BAG54694,BAG63385,BAG35646,AAH00325,AAH47771,AAP35448,CAB04787,Q9H3H5,ADQ31680,NP_001373,AAG43168 Hs.524081 ALG7|CDG-Ij|CDG1J|D11S366|DGPT|DPAGT|DPAGT2|G1PT|GPT|UAGT|UGAT GlcNAc-1-P transferase|N-acetylglucosamine-1-phosphate transferase|OTTHUMP00000204055|UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase|UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase|dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra|dolichyl-phosphate alpha-N-acetylglucosaminyltransferase protein-coding 1346376 DPCR1 diffuse panbronchiolitis critical region 1 19851445,20041166,17207965,16702430,12477932,12185533,10677310 135656 CH471081,CR759747,AB064272,AL833738,BC069477,BC101661,BC101663,NM_080870,AB110931,AB110932,AB202102,AL662854,AL669830,AL773541,CR936875 CAI18455,EAX03351,BAB82383,CAH56248,AAH69477,AAI01662,AAI01664,Q3MIW9,Q5ST29,ACE87288,ACE86607,ADQ32893,CAQ10928,NP_543146,BAD13697,BAD13698,BAE78623,CAI17438,CAI18007 Hs.631993 MGC126710|MGC126712|PBLT|bCX105N19.6 diffuse panbronchiolitis critical region 1 protein protein-coding 1350537 DPEP1 dipeptidase 1 (renal) DPEP1 (EC 3.4.13.11) is a kidney membrane enzyme that hydrolyzes a variety of dipeptides and is implicated in renal metabolism of glutathione and its conjugates, e.g., leukotriene D4 (Kozak and Tate, 1982 [PubMed 6122685]). DPEP1 is responsible for hydrolysis of the beta-lactam ring of antibiotics, such as penem and carbapenem (Campbell et al., 1984 [PubMed 6334084]). Earlier, beta-lactamase enzymes were thought to occur only in bacteria, where their probable function was in protecting the organisms against the action of beta-lactam antibiotics. These antibiotics exhibit selective toxicity against bacteria but virtual inertness against many eukaryotic cells (Adachi et al., 1990 [PubMed 2303490]).[supplied by OMIM] 1580863 2303490,16189514,15489334,15340161,15145522,12477932,12144777,10425712,8507661,8439558,8097406,7764673,7682195,6334084,6122685,2768222,2168407,2137335,20031578 1800 NM_001128141,NM_004413,AC010538,CH471184,D13137,S70330,AK309577,BC017023,BM152944,BT006664,CR457404,CR620135,D13138,J05257 NP_001121613,NP_004404,EAW66719,EAW66720,BAA02430,AAC60630,AAH17023,AAP35310,CAG33685,BAA02431,AAB59410,P16444,Q6I9V1,ABM81640,ACE87480,ACE86793 Hs.109 MBD1|MDP|RDP OTTHUMP00000175356|dehydropeptidase-I|dipeptidase 1|hRDP|microsomal dipeptidase|renal dipeptidase protein-coding 1313962 DPEP2 dipeptidase 2 DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM] 1580863 16344560,16335952,15489334,14702039,12975309,12738806,12477932,18193043 64174 AK315090,AY358454,BC024021,CB528462,CR625664,DA677374,DB038910,NM_022355,AC040162,CH471092,AJ295149,AK092884,AK298003 BAG60309,BAG37555,AAQ88819,AAH24021,Q9H4A9,NP_071750,EAW83200,EAW83201,EAW83202,EAW83203,EAW83204,CAC14667,BAG52621 Hs.372633 MBD2 OTTHUMP00000174846|dipeptidase 2 protein-coding 1313538 DPEP3 dipeptidase 3 This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq] 1580863 16344560,15489334,14702039,12975309,12738806,12477932,19060910 64180 NM_022357,NM_001129758,AC040162,CH471092,AJ291679,AK057401,AY358390,BC037243,BC057789,DB020973,HC006938 NP_071752,NP_001123230,EAW83197,EAW83198,EAW83199,CAC15385,BAG51910,AAQ88756,AAH57789,Q9H4B8,CBH19274 Hs.302028 MBD3 dipeptidase 3|membrane-bound dipeptidase 3|metallopeptidase (family M19) protein-coding 1606329 DPF1 D4, zinc and double PHD fingers family 1 14702039,8812431,12477932,16169070 8193 NM_001135155,AC011479,CH471126,AI857563,AK094632,AK127198,AK297581,AK308563,AL529673,BC021191,BC125152,BC125153,CR604718,CR614366,GQ358728,U43843,NM_001135156,NM_004647 NP_001128627,EAW56760,EAW56761,EAW56762,EAW56763,BAG52900,BAG59970,AAH21191,AAI25153,AAI25154,ACU65923,AAC50685,Q08AJ1,Q6PJ73,Q92782,NP_001128628,NP_004638 Hs.631576 BAF45b|MGC150428|MGC150429|NEUD4|neuro-d4 BRG1-associated factor 45B|OTTHUMP00000211613|OTTHUMP00000211614|OTTHUMP00000211615|OTTHUMP00000211635|neuro-d4 homolog|zinc finger protein neuro-d4 protein-coding 1323292 DPF2 D4, zinc and double PHD fingers family 2 The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq] 1580863 7961935,17081983,15489334,15302935,14743216,14702039,12477932,11845289,9680388,9253601,8812431,18029348,18809673,19759913,20460684,20400511 5977 AP000944,AY220877,CH471076,U43920,AF001433,AK096796,AK291944,AK300061,AK313408,BC014889,BT006718,NM_006268,BX641135,CR614117,CR620712,CR623641,U94585 NP_006259,AAO26041,EAW74375,EAW74376,EAW74377,AAC50687,AAB81203,BAF84633,BAG61870,AAH14889,AAP35364,AAB58307,Q92785,ABM83323,ABM86538 Hs.13495 MGC10180|REQ|UBID4|ubi-d4 BAF45D|BRG1-associated factor 45D|apoptosis response zinc finger protein|protein requiem|requiem, apoptosis response zinc finger|zinc finger protein ubi-d4 protein-coding 1319176 DPF3 D4, zinc and double PHD fingers, family 3 1580863 8812431,18978678,18765789,16344560,16109180,14702039,12477932,11845289,11329013,20613843 8110 AC004828,AC006360,AC007160,AL392024,CH471061,U43919,AK024141,AK124615,AK124946,AK126074,AK126933,AK294425,AY803021,BC026305,BC060801,NM_012074,BG218220,DA407279,DB140241 NP_036206,EAW81076,EAW81077,EAW81078,EAW81079,EAW81080,AAC50686,BAB14838,BAC86753,BAH11762,AAX20019,AAH60801,Q92784,ABZ92269 Hs.162868 CERD4|FLJ14079 2810403B03Rik|BAF45C|BRG1-associated factor 45C|cer-d4 homolog|zinc finger protein DPF3|zinc finger protein cer-d4 protein-coding 1352320 DPH1 DPH1 homolog (S. cerevisiae) Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM] 8603384,15485916,14702039,12621583,12477932,11527402,11013075,10519411,8616839,20308539 1801 NM_001383,AC090617,AC099684,CH471108,AF321876,AK090530,AK098268,AK297947,AK314015,AL580693,BC003099,BC013205,BC096086,BC096087,BC096088,BC096089,BP417755,BT019878,CR590443,CR600107,CR614425,CR620769,CR622243,S81752,U34880 NP_001374,EAW90567,EAW90569,AAK13428,BAG52179,BAG60262,BAG36726,AAH03099,AAH96088,AAV38681,AAB36297,AAD10198,Q9BZG8,ABM82784,ABM85973 Hs.513856 DPH2L|DPH2L1|FLJ33211|OVCA1 DPH-like 1|DPH2-like 1|candidate tumor suppressor in ovarian cancer 1|diphthamide biosynthesis protein 1|diphthamide biosynthesis protein 2 homolog-like 1|diphthamide biosynthesis protein 2-like|diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1|diptheria toxin resistance protein required for diphthamide biosynthesis-like 1|dph2-like 1 (s. cerevisiae)|hsDph1|ovarian cancer-associated gene 1 protein|ovarian tumor suppressor candidate 1 protein-coding 1312184 DPH2 DPH2 homolog (S. cerevisiae) This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 15485916,14702039,12477932,9782084,8406038,7559470,20379614 1802 NM_001384,NM_001039589,AL357079,CH471059,AA252672,AF053003,AK091303,AK297933,AK315506,BC001389,BC003181,BC016956,BM794530,BQ215136,BT007431,BX362196,CR593501,CR599890,CR600358 NP_001375,NP_001034678,CAI16800,EAX07070,EAX07071,AAC18086,BAG52330,BAG60250,BAG37890,AAH01389,AAH03181,AAH16956,AAP36099,Q9BQC3 Hs.632398 DPH2L2 DPH2-like 2|diphthamide biosynthesis protein 2|diphthamide biosynthesis protein 2 homolog-like 2|diphthamide biosynthesis-like protein 2|diptheria toxin resistance protein required for diphthamide biosynthesis-like 2|dph2-like 2 (s. cerevisiae)|hsDph2 protein-coding 1346924 DPH3 DPH3, KTI11 homolog (S. cerevisiae) This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq] 1580863 18029348,14980502,18214955,16344560,15489334,15485916,14702039,14527407,12477932 285381 AK022970,AK023203,AK092040,AK311618,BC010181,DA447430,DA875039,NM_001047434,NM_206831,AC090953,CH471055,BC073931,BC094863 EAW64269,AAH10181,Q96FX2,NP_001040899,NP_996662,EAW64268 Hs.388087 DELGIP|DELGIP1|DESR1|DPH3A|KTI11|MGC20197|ZCSL2 CSL-type zinc finger-containing protein 2|DPH3 homolog|DPH3 homolog (KTI11, S. cerevisiae)|DPH3A, KTI11 homolog A|Del-GEF interacting protein|deafness locus putative guanine nucleotide exchange factor interacting protein 1|delGEF-interacting protein 1|diphtheria toxin and Pseudomonas exotoxin A sensitivity required gene 1|zinc finger, CSL domain containing 2|zinc finger, CSL-type containing 2 protein-coding 1343930 DPH3B DPH3B, KTI11 homolog B (S. cerevisiae) This gene may represent a processed pseudogene of DPH3, GeneID: 285381, because it lacks the exon/intron structure found in the functional gene. However, it does contain an intact open reading frame and it has not been established that the predicted protein is not translated. The NCBI RefSeq Project continues to treat this as a protein coding gene in agreement with the HGNC and Swiss-Prot. [provided by RefSeq] 1580863 11780052 100132911 NM_080750,AL035669,CH471077 NP_542788,EAW75332,Q9H4G8 Hs.126248 C20orf143|DPH3B|ZCSL1|dJ885L7.5 CSL-type zinc finger-containing protein 1|DPH3 homolog B (KTI11, S. cerevisiae)|DPH3B, KTI11 homolog B|putative DPH3 homolog B|zinc finger, CSL domain containing 1|zinc finger, CSL-type containing 1 protein-coding 1602122 DPH5 DPH5 homolog (S. cerevisiae) This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16344560,15489334,15485916,12477932,11042152,10931946,10810093,10737800,9373149,8889548,8125298 51611 NM_001077394,NM_015958,NM_001077395,AC093157,CH471097,AF132964,AF157319,AF161492,AF248965,AK125485,AK225469,AK225707,AK225951,AK289351,AK298181,BC034669,BC053857,BI907367,BM808505,CK002046,CR593052,CR594915,CR597128,CR610508,CR615163,CR616993,CR617565,DA133565,BC009620 NP_001070862,NP_057042,NP_001070863,EAW72932,EAW72933,EAW72934,EAW72935,EAW72936,EAW72937,EAW72938,EAW72939,EAW72940,EAW72941,AAD27739,AAF67485,AAF29107,AAG44563,BAG54203,BAF82040,BAG60452,AAH09620,AAH53857,Q96DC6,Q9H2P9 Hs.440776 AD-018|CGI-30|HSPC143|MGC61450|NPD015 diphthamide biosynthesis methyltransferase|diphthine synthase|protein x 0011 protein-coding 1320840 DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. [provided by RefSeq] 1580863 9535917,10835346,16280320,9724629,17081983,15669674,15489334,12477932,11780052,10642602,10642597,9223280,16169070,17353931,17207965,17215244 8813 NM_003859,NG_008923,AL034553,CH471077,D86202,AF007875,AK289569,BC007073,BC008427,BC008466,BC016322,CR456926,CR598461,CR611307,CR616106,D86198 NP_003850,CAB53749,CAI23324,CAI23326,CAI23327,EAW75607,EAW75608,EAW75609,BAA25647,AAC98797,BAF82258,AAH07073,AAH08466,AAH16322,CAG33207,BAA25646,O60762,Q96HK0,ADQ31633 Hs.654951 CDGIE|MPDS DPM synthase|MPD synthase|OTTHUMP00000031286|OTTHUMP00000031287|dolichol monophosphate mannose synthase|dolichol-phosphate mannose synthase|dolichol-phosphate mannosyltransferase|dolichyl-phosphate beta-D-mannosyltransferase|mannose-P-dolichol synthase protein-coding 736541 DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq] 10835346,11102867,16280320,12477932,11591653,10944123,9724629,8617505 8818 NM_003863,AL157935,AB013361,AB451329,AF061729,AI954002,AK312121,BC015233,BC015374,BC048256,BC107863,CR542134,CR590576,CR625100 NP_003854,CAI12615,CAI12616,BAA33974,BAG70143,AAG43140,BAG35057,AAH15233,AAH15374,AAI07864,CAG46931,O94777,Q5XKK9,Q96BP5 Hs.108973 FLJ80013|MGC111193|MGC21559 dolichol phosphate-mannose biosynthesis regulatory protein|dolichol phosphate-mannose synthase 2|dolichol-phosphate mannosyltransferase 2 protein-coding 1349412 DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq] 1580863 10835346,16280320,16710414,12477932,11420690,11226175 54344 NM_153741,NM_018973,AL691442,CH471121,AB028128,AF312922,AF312923,AK293625,BC032223,BC065233,BC104202,BC104203,BC104481,NG_012871,CS488898 NP_714963,NP_061846,CAI15325,CAI15326,EAW53125,EAW53126,BAA96291,AAK28487,AAK28486,BAG57082,AAH32223,AAH65233,AAI04203,AAI04204,AAI04482,Q3SX58,Q5SR62,Q6P184,Q86TM7,Q9P2X0,CAM55972 Hs.110477 CDG1O|MGC125904|MGC125905|MGC34275 DPM synthase complex subunit 3|MPD synthase subunit 3|dolichol-phosphate mannose synthase subunit 3|dolichol-phosphate mannosyltransferase subunit 3|dolichyl-phosphate beta-D-mannosyltransferase subunit 3|mannose-P-dolichol synthase subunit 3|prostin 1|prostin-1 protein-coding 1315036 DPP10 dipeptidyl-peptidase 10 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1331525,1580863 19913121,20628086,20816195,19247692,12662155,19676137,19308021,19264973,19258923,19237393,17703412,17702965,17475505,16899223,16290253,15911355,15829243,15671030,15489334,15454437,14702039,14566338,12675227,12477932,10819331,20354865,19672052,19736351,19910028,19910030,19951440,19996348,20085599,20200978,20379614,20414141,20451256,20503287,20701904 1331525 57628 NM_001004360,AC010885,AC012071,AC016721,AC017040,AC066593,AC067947,AC068542,AC093610,AC105422,AC116620,AC118276,AC118664,CH471103,AB040925,NM_020868,AK025075,AK055256,AK289967,AK296490,AK315147,AW771124,AY172661,AY387785,BC030832,BC038514,BI597037,CR617461,DQ857321,DQ857322,DQ857323,N47251,NM_001178034,NM_001178036,NM_001178037 NP_065919,NP_001004360,AAY14930,AAY15025,AAY15032,AAY14685,AAY24120,EAW95186,EAW95187,EAW95188,BAA96016,BAF82656,BAG59127,BAG37595,AAO17263,AAQ91190,ABI16085,ABI16086,ABI16087,Q0GLB7,Q0GLB8,Q0GLB9,Q53TB1,Q8N608,ABM83319,ABM86534,AAH30832,NP_001171505,NP_001171507,NP_001171508 Hs.591555 DPL2|DPPY|DPRP3 DPP X|DPRP-3|OTTHUMP00000203618|OTTHUMP00000203676|OTTHUMP00000203679|dipeptidyl peptidase 10|dipeptidyl peptidase IV-related protein 3|dipeptidyl peptidase X|dipeptidyl peptidase like protein 2|dipeptidyl peptidase-like protein 2|dipeptidylpeptidase 10|inactive dipeptidyl peptidase 10 protein-coding 736150 DPP3 dipeptidyl-peptidase 3 This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 1580863 10387075,18163885,16097034,15489334,14759258,14702039,14687922,14529681,12477932,11209758,11181995,10873616,10773679,9711218,9640230,9425109,9373149,8125298,7044004,7041700,6368131,3791505,3348886,3233187,2906822,2858361,2044841,618680,16169070,20236318 10072 NM_130443,NM_005700,AP002748,CH471076,AB017970,AJ271216,AK021449,AK025984,AK222566,AK222847,AK297199,AK304581,AK315478,AL137670,AL833475,BC001446,BC007221,BC014038,BC024271,CD366941,CR620853 NP_569710,NP_005691,EAW74538,EAW74539,EAW74540,EAW74541,EAW74543,EAW74544,BAA75785,CAB72433,BAB13828,BAD96286,BAD96567,BAG59686,BAG65369,BAG37862,CAI46122,AAH01446,AAH07221,AAH14038,AAH24271,Q53GT4,Q53HL4,Q5JPB8,Q9NY33,ABM83111,ABM86305 Hs.502914 DPPIII|FLJ11387|FLJ22331 DPP III|dipeptidyl aminopeptidase III|dipeptidyl arylamidase III|dipeptidyl peptidase 3|dipeptidyl peptidase III|dipeptidylpeptidase 3|dipeptidylpeptidase III|dipeptidylpeptidase iii protein-coding 737491 DPP4 dipeptidyl-peptidase 4 The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq] 2313699,2313700,2313702,1580863 20185737,20805868,14684150,7594462,11772392,16670267,15052268,19358731,19327104,19153055,19061927,19024603,18983807,18940185,18820218,18708048,18682883,18606664,18595667,18563594,18538760,18520029,18496701,18189200,18007554,17949241,17944883,17904681,17846797,17786309,17610364,17549790,17525828,17492130,17287217,17270095,17244786,17071493,16829852,16781669,16778789,16704418,16700525,16700520,16700508,16621928,16611738,16335952,15985311,15911629,15866709,15864535,15819895,15797249,15695814,15681827,15540901,15490304,15489334,15448155,15375776,15353589,15323360,15292258,15215186,15213224,15175333,15146553,15027119,15016824,15002062,14718659,14691230,14684825,14630704,14525771,12906826,12832764,12820316,12790770,12767062,12752434,12727530,12690074,12675254,12675253,12675248,12675247,12675246,12675245,12675243,12675238,12675233,12675232,12675231,12675229,12675220,12675218,20569697,20841351,12634639,12595736,12579300,12529175,12483204,12477932,12471135,12437097,12239451,12213886,12176563,12175726,12112826,12095981,12047913,12031601,12023964,11901152,11882590,11773049,11739489,11739156,11696365,11549856,11390394,11278278,10961862,10880264,9933589,9710254,9685737,9671214,9645485,9537773,9516414,9374514,9330689,9252108,8925885,8852605,8763423,8635502,8101391,8096237,8095514,8094732,7927537,7912830,7911242,7833626,7539755,7522442,7487939,1977364,1975616,1680916,1677636,1362202,1352704,1347043,7585218,11831694,7903479,9330699,8806567,10899322,9103436,9263011,9185130,20459800,19469710,20495958,12646248,1352530,9330696,10900005,16651416,19247978,19459926,19632987,19654580,19687096,19734982,19762327,19811413,19817894,19917055,20008019,20043068,20075514,20155839,20468064,19913121,20361950,20520837,20628086,20628624,20828536,20942971,20198559 2313699,2313700,2313702 1803 HI179156,NM_001935,AC008063,CH471058,CQ772397,S79876,U13710,U13711,U13712,U13713,U13714,U13715,U13716,U13717,U13718,U13719,U13720,U13721,U13722,U13723,U13724,U13725,U13726,U13727,U13728,U13729,U13730,U13731,U13732,U13733,U13734,U13735,AB451339,AB451488,AK314798,AY429531,AY429532,AY429533,BC013329,BC065265,CR612763,CR618494,M74777,M80536,X60708 CBX53886,NP_001926,AAX93179,EAX11361,EAX11362,CAF33874,AAB35614,AAB60646,BAG70153,BAG70302,AAH13329,AAH65265,AAA51943,AAA52308,CAA43118,P27487 Hs.368912 ADABP|ADCP2|CD26|DPPIV|TP103 ADCP-2|DPP IV|T-cell activation antigen CD26|adenosine deaminase complexing protein 2|dipeptidyl peptidase 4|dipeptidyl peptidase IV|dipeptidyl-peptidase 4 (CD26, adenosine deaminase complexing protein 2)|dipeptidylpeptidase 4|dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2) protein-coding 68590 DPP6 dipeptidyl-peptidase 6 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 68240,1580863 20573902,8103397,19676137,19525032,19332697,19285295,19193627,18987618,18519826,18364354,18084291,18057069,16764835,16344560,15890703,15671030,15476821,12853948,12575952,12477932,11173531,9847074,8889548,7566098,1729689,15146195,16123112,15911355,20001489,20137488,20379614,19913121,20628086,20685689,20686608 68240 1804 NM_130797,NM_001936,AC005588,AC006019,AC007129,AC024239,AC024730,AC073336,AC099341,AC104594,CH236962,CH471149,AI458476,AK126619,AK131502,AK294483,AK309760,BC035912,BC150304,BM931444,BX647966,CR619673,DA071922,M96859,M96860,R86717,T28117,NM_001039350,AK293582,AK308993 NP_001034439,NP_570629,NP_001927,AAS07504,AAS07508,AAS07493,AAS07518,EAX04521,EAX04522,BAH11785,AAH35912,AAI50305,AAA35760,AAA35761,P42658,Q75MF0,Q75MI7,Q75MI8,Q8IYG9,Q75KN3,BAH11539 Hs.490684,Hs.669076,Hs.703229 DPPX|FLJ55680|MGC46605|VF2 DPP VI|OTTHUMP00000200130|OTTHUMP00000211905|dipeptidyl aminopeptidase IV-related protein|dipeptidyl aminopeptidase-like protein 6|dipeptidyl aminopeptidase-related protein|dipeptidyl peptidase 6|dipeptidyl peptidase IV-like protein|dipeptidyl peptidase IV-related protein|dipeptidyl peptidase VI|dipeptidylpeptidase 6|dipeptidylpeptidase VI protein-coding 733882 DPP7 dipeptidyl-peptidase 7 The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq] 70613,1580863 15231747,10567372,18823758,15489334,12529175,12477932,12005022,11173530,11139392,11067927,10477574,8096464,2727382,2207678,1515698,19556882 70613 29952 NM_013379,AL929554,CH471090,AB209787,AF154502,AK292112,AK293700,AK298288,AL533195,BC011907,BC016961,BF342300,BX400716 NP_037511,CAH72872,EAW88349,BAD93024,AAF12747,BAF84801,BAG57135,BAG60548,AAH11907,AAH16961,Q59EM4,Q9UHL4,ABM82386,ABM85563 Hs.37916 DPP2|DPPII|QPP DPP II|carboxytripeptidase|dipeptidyl aminopeptidase II|dipeptidyl arylamidase II|dipeptidyl peptidase 2|dipeptidyl peptidase II|dipeptidyl-peptidase II|dipeptidylpeptidase 7|quiescent cell proline dipeptidase protein-coding 1322072 DPP8 dipeptidyl-peptidase 8 This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 20139978,15866709,15664838,15489334,15039077,14729942,14702039,12662155,12534281,12477932,11012666,18029348,18275857,17040910,16704418,16700509,16344560,19581630,20043068 54878 NM_017743,NM_130434,NM_197961,NM_197960,AC011846,AC105129,CH471082,AF176779,AF221634,AF221635,AF221636,AF221637,AK000290,AK027826,AK291057,AK296915,AK302638,AY172659,AY354202,BC030688,BC040203,BI458620,BI462092,CR609512,DA297112 NP_060213,NP_569118,NP_932065,NP_932064,EAW77726,EAW77727,EAW77728,EAW77729,EAW77730,EAW77731,EAW77732,EAW77733,EAW77734,AAQ13657,AAG29766,AAG29767,AAG29768,AAG29769,BAA91059,BAB55395,BAF83746,BAG59470,BAG63880,AAO17261,AAQ63887,AAH30688,Q6V1X1,ABM82659,ABM85836 Hs.591106 DP8|DPRP1|FLJ14920|FLJ20283|MGC26191|MSTP141 DPP VIII|DPRP-1|dipeptidyl peptidase 8|dipeptidyl peptidase IV-related protein 1|dipeptidyl peptidase IV-related protein-1|dipeptidyl peptidase VIII|dipeptidylpeptidase 8|prolyl dipeptidase DPP8 protein-coding 1350502 DPP9 dipeptidyl-peptidase 9 This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq] 18940951,16704418,16700509,16475979,16344560,15866709,15489334,15245913,14702039,12662155,12534281,12477932,12459266,19268648,19581630,19667070,20043068 91039 HI574198,NM_139159,AC005594,AC005783,CH471139,AF452102,AF542510,AK054656,AK075030,AK122645,AK122654,AK131100,AK131499,AL834376,AY172660,AY374518,BC000970,BC017008,BC037948,BF203783,CB960096,CR603620,CR604042,CR612208,CR627380,DB105598,DQ417928 CBX47588,NP_631898,AAC33801,AAC62840,EAW69199,EAW69200,EAW69201,AAL47179,AAO73880,BAB70784,BAC11362,BAG53644,BAC85150,BAD18643,CAD39039,AAO17262,AAQ83119,AAH00970,AAH37948,CAH10477,ABD83624,Q1ZZB8,Q86TI2,ABM83251,ABM86453 Hs.515081 DKFZp762F117|DPRP2|FLJ16073 DP9|DPLP9|DPP IX|DPRP-2|dipeptidyl peptidase 9|dipeptidyl peptidase IV-related protein 2|dipeptidyl peptidase IV-related protein-2|dipeptidyl peptidase IX|dipeptidyl peptidase-like protein 9|dipeptidylpeptidase 9 protein-coding 1346119 DPPA1 developmental pluripotency associated 1 359784 AF490345 1348790 DPPA2 developmental pluripotency associated 2 18519755,18467432,16189514,15583978,15489334,12477932,19705800,20379614 151871 NM_138815,AC076971,CH471052,AA460929,AY283672,BC018070 NP_620170,EAW79709,EAW79710,AAP37285,AAH18070,Q7Z7J5 Hs.351113 CT100|PESCRG1 OTTHUMP00000214409|cancer/testis antigen 100|developmental pluripotency-associated protein 2|pluripotent embryonic stem cell-related gene 1 protein protein-coding 2974663 DPPA2P1 developmental pluripotency associated 2 pseudogene 1 100421137 AC005820,NG_021938 pseudo 1352490 DPPA3 developmental pluripotency associated 3 This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq] 17143267,16291741,15489334,15018652,14990856,14684992,14654002,11900980 359787 NM_199286,AC006517,CH471116,AY317075 NP_954980,EAW88657,EAW88658,AAQ84110,Q6W0C5,AAI60067 Hs.131358 STELLA developmental pluripotency-associated protein 3|stella-related protein protein-coding 1343152 DPPA4 developmental pluripotency associated 4 16169070,18366076,16189514,15489334,14702039,12620990,12477932,8889549,19913121,20628086 55211 AK298623,AK299290,NM_018189,AC076971,CH471052,AA223751,AA224162,AK001575,AK022698,AK022821,AK290992,BC032846 BAH12831,BAH12993,NP_060659,EAW79708,BAA91765,BAB14188,BAF83681,AAH32846,Q7L190,ABM82151,ABM85336 Hs.317659 2410091M23Rik|FLJ10713 developmental pluripotency-associated protein 4 protein-coding 1344123 DPPA5 developmental pluripotency associated 5 17913455,15790765,12477932,16081659,16166252,16479162,17967063,19129511,19221495,20146561 340168 NM_001025290,AC019205,CH471051,AA872428,BC137549,BC137558,BX092581,AI365263 NP_001020461,EAW48774,EAW48775,AAI37550,AAI37559,A6NC42 Hs.125331 ESG1|Esg1 developmental pluripotency-associated 5 protein|embryonal stem cell specific gene 1 protein-coding 1604883 DPRX divergent-paired related homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq] 17005330 503834 NM_001012728,AC011487 NP_001012746,A6NFQ7 Hs.579941 divergent paired-related homeobox protein-coding 1605459 DPRXP1 divergent-paired related homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq] 503641 NG_004847,AC018867 pseudo 1605458 DPRXP2 divergent-paired related homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq] 503643 NG_004848,AL133507 pseudo 1605457 DPRXP3 divergent-paired related homeobox pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq] 503644 NG_004849,AL121594 pseudo 1602608 DPRXP4 divergent-paired related homeobox pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq] 19291764 503645 NR_002221,AC138207,BQ448328 Hs.683578 pseudo 1605456 DPRXP5 divergent-paired related homeobox pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq] 503646 NG_025071,NG_004850,AP000703,AP000704,AP001727 pseudo 1605455 DPRXP6 divergent-paired related homeobox pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq] 503647 NG_004851,AC092474 pseudo 1605454 DPRXP7 divergent-paired related homeobox pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq] 503648 NG_004852,AL031176 pseudo 1316210 DPT dermatopontin Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq] 1580863 17903295,8104875,19064610,17547532,16710414,15489334,12477932,10233760,9895299,8082810,11810028,16169070,15342556,19536175,19916908 1805 NM_001937,AL049798,CH471067,AF086330,AL049455,BC033736,CR591165,CR592434,CR596260,CR614953,CR622672,Z22865,AI699890,BP257325 NP_001928,CAB46693,EAW90830,AAH33736,CAA80487,Q07507,ABM82981,ABM86175 Hs.80552 TRAMP dermatopontin|tyrosine-rich acidic matrix protein protein-coding 1603693 DPY19L1 dpy-19-like 1 (C. elegans) 12477932,11181995,10048485 23333 AJ011911,BC029591,AB020684,BC050318,BC064476,DQ287932,NM_015283,AC004711,AC004712,AC005271,AC005401,AC010085,CH471073 BAA74900,EAW94039,AAH29591,ABB89208,Q2PZI1,NP_056098,EAW94038 Hs.408623 KIAA0877 DPY-19-like protein 1|protein dpy-19 homolog 1 protein-coding 1602199 DPY19L1P1 dpy-19-like 1 pseudogene 1 (C. elegans) 100129460 NR_036680,AC018633,AC018645,AK026768 Hs.633705 FLJ23115 pseudo 1606928 DPY19L2 dpy-19-like 2 (C. elegans) 16526957,14702039,12975309,12477932 283417 NM_173812,AC027667,CH471054,AK057511,AK303727,AK310102,AL833344,AY358792,BC031225,BC068442,BC125215,BC125216,DB514316 NP_776173,EAW97117,EAW97118,BAB71515,BAG64703,AAQ89152,AAH31225,AAH68442,AAI25216,AAI25217,Q6NUT2 Hs.533644 FLJ32949|FLJ36166 dpy-19-like protein 2|protein dpy-19 homolog 2 protein-coding 1602789 DPY19L2P1 dpy-19-like 2 pseudogene 1 (C. elegans) 12477932 554236 NR_002833,AC004800,AC006379,AK304236,BC013598,BC066987,BX647611,BX648666 BAG65105,Q6NXN4 Hs.594815 pseudo 1604946 DPY19L2P2 dpy-19-like 2 pseudogene 2 (C. elegans) 16526957,16344560,14702039,12477932 349152 BC068601,BC094802,BC150309,BX648212,DB094748,N40211,NR_027768,AC004668,AC007683,CH471070,AK093485,AK097711,AK131353,AK302046,AL049437,AL834175,BC023575,BC033022,BC045595,NR_003561 EAW83317,EAW83323,EAW83324,BAC04183,BAC05147,BAD18507,BAG63438,CAD38872 Hs.148768 DKFZp434E092|DKFZp586E1120|DKFZp779M0267|FLJ36166 pseudo 1605477 DPY19L2P3 dpy-19-like 2 pseudogene 3 (C. elegans) 12477932 442524 AC007276,DQ287933,BC036244,NR_036482,NR_036554 Hs.652669,Hs.535029 pseudo 1625100 DPY19L2P4 dpy-19-like 2 pseudogene 4 (C. elegans) 16526957,12477932 442523 NR_003551,AC004969,CH236949,AK098759,BC031277,BC047471,BX537815,DQ287934 BAC05405,Q8N794 Hs.406964 DKFZp686L2199|FLJ25893|MGC39769|MGC48509 pseudo 1604230 DPY19L3 dpy-19-like 3 (C. elegans) 12477932,16344560,19488044 147991 NM_207325,AC005382,AC005621,AC007773,AF533710,AF533711,AK024775,AK125846,AK126264,AK126757,AK129497,AL833713,BC029162,BC131725,CR749459,BU625938,DA852420,DR005952,NM_001172774 NP_997208,AAQ09023,AAQ09024,BAC86508,BAC86676,BAC85166,AAH29162,AAI31726,CAH18293,Q6ZPD9,Q7Z4H5,Q7Z4H6,Q8N6Q4,NP_001166245 Hs.194392 DKFZp686J17135|MGC35440 dpy-19-like protein 3|protein dpy-19 homolog 3 protein-coding 1606660 DPY19L4 dpy-19-like 4 (C. elegans) 17567985,16381901,15489336,12477932,11230166,11076863 286148 NM_181787,AP003692,AP005660,CH471060,AK123618,AK123682,AL049962,AL832859,BC110870,BC126193,BC130576,BP873374,BX538048,BX538174,AF086017,BC038568,BC050303 NP_861452,EAW91722,EAW91723,EAW91724,EAW91725,BAC85664,BAC85675,AAI10871,AAI26194,AAI30577,CAD97987,CAD98049,Q7Z388,CAL38586 Hs.567828 MGC131885 dpy-19-like protein 4|protein dpy-19 homolog 4 protein-coding 1603291 DPY30 dpy-30 homolog (C. elegans) DPY30 is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM] 18838538,16189514,19481096,17500065,16730941,16260194,15489334,12477932,19556245,19615732,19651892 84661 NM_032574,AL121655,CH471053,AF226998,BC015970,BI752326,CD704815 NP_115963,EAX00463,EAX00464,EAX00465,EAX00466,AAK00640,AAH15970,Q9C005 Hs.531788 HDPY-30|Saf19 OTTHUMP00000201132|OTTHUMP00000201133|dpy-30-like protein|dpy-30L|protein dpy-30 homolog protein-coding 731730 DPYD dihydropyrimidine dehydrogenase The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1624989,1599789,1300048,2317629,2317630,2317631 20647710,20530282,20544545,20570913,20647221,20653680,20665215,20714149,20819423,16820886,16806531,16786143,16771603,16361556,16344560,16328315,16132996,16021908,15999119,15993511,15939134,15709212,15316940,15254700,15132136,15102667,15069545,15025795,15017333,14702180,14654904,14562021,14519634,12851836,12844478,12822071,12576451,12477932,12360106,12209976,12047484,12025228,11992400,11895907,11862480,11555601,11267945,11072080,10923099,10606257,9464498,9439663,9266349,9170156,9135003,8892022,8221682,7713523,3335642,2528450,2319593,1901022,1544906,8083224,1512248,10410956,18075467,11988088,9348115,19473056,19343046,19296131,19295264,19288105,19178088,19154585,19104657,19020767,18937829,18705276,18537153,18452418,18443386,18347391,18299612,18225548,18004243,17905396,17876700,17848752,17828463,17699798,17612628,17582310,17582309,17445431,17417073,17397246,17377791,17375478,17335544,17203168,17165084,17121937,17046731,17000685,16969493,18619742,19530960,19546880,19571608,19636001,19724871,19822137,19858398,19898482,19956635,20037211,20157331,20379614,20385995,20453000,20507294,20407238,20803296,21057378 1624989,1599789,2317629,2317630,2317631 1806 NM_000110,NG_008807,NM_001160301,AC091608,AC093576,AC099787,AC114878,AC138135,AL356457,AL645494,BX908805,CH471097,U57655,X95670,AB003063,AI124948,AK291217,AK297515,BC008379,BC064027,BC108742,BC131777,BC131778,BT006740,CR590314,CR607436,DA721123,U09178,U20938 NP_000101,NP_001153773,CAI15125,EAW73002,EAW73003,AAB07049,CAA64973,BAA89789,BAF83906,BAG59923,AAH08379,AAH64027,AAI08743,AAI31778,AAI31779,AAP35386,AAA57474,AAB51366,Q12882,Q32NB0,Q96HL6,CAH70570 Hs.335034 DHP|DHPDHASE|DPD|MGC132008|MGC70799 dihydropyrimidine dehydrogenase|dihydropyrimidine dehydrogenase [NADP+]|dihydrothymine dehydrogenase|dihydrouracil dehydrogenase protein-coding 68541 DPYS dihydropyrimidinase Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq] 1599001,1624989,1300048,1580863 9718352,10410956,18075467,18216719,17383919,15489334,12477932,10956643,8973361,3931905,20362666,19649633,20797317 1599001,1624989 1807 NM_001385,NG_008840,AB004678,AP002847,AP003471,CH471060,CQ840196,AK311261,BC034395,D78011 NP_001376,BAA33067,EAW91893,CAH05690,AAH34395,BAA11189,Q14117 Hs.443161 DHP|DHPase dihydropyrimidinase|dihydropyrimidine amidohydrolase|hydantoinase protein-coding 737388 DPYSL2 dihydropyrimidinase-like 2 1580863,2303056,2316241,2316251 12942088,1602151,8973361,16260607,18029348,19405953,19328558,19151921,19110265,18460467,18218617,18203259,17683481,17229153,16964243,16611631,16380905,16321170,15858820,15672539,15489334,15345747,15207709,14702039,12951196,12477932,12134159,11771764,11741937,11121447,10956643,10818093,12482610,10770920,10757975,10574455,9373149,8640231,8125298,7637782,16344560,15652488,18583979,19659462,19666111,20379614,20381070,20414250,20801876 2303056,2316241,2316251 1808 NM_001386,AB020777,AC015564,AC015743,CH471080,AB209195,AB370195,AK092377,AK223557,AK291287,AK299077,BC056408,BC067109,BX647115,CR594253,D78013,U17279,X91250,DA649686,NM_001197293,FB582075,FB723034 NP_001377,BAA86991,EAW63573,EAW63574,BAD92432,BAF94339,BAC03872,BAD97277,BAF83976,BAG61143,AAH56408,AAH67109,BAA11191,AAA93202,Q16555,Q53ET2,Q59GB4,Q8NAN9,NP_001184222,CAR95650,CAT03389 Hs.725949 CRMP2|DHPRP2|DRP-2|DRP2 CRMP-2|N2A3|ULIP-2|collapsin response mediator protein 2|collapsin response mediator protein hCRMP-2|dihydropyrimidinase-like 2 long form|dihydropyrimidinase-related protein 2|unc-33-like phosphoprotein 2 protein-coding 735265 DPYSL3 dihydropyrimidinase-like 3 1580863 17081983,8973361,9115293,16611631,15933812,15345747,12745088,12477932,12444086,11771764,10956643,10748015,10664068,1602151,20543870,18029348,20379614,20804502 1809 NM_001387,AC011373,AF246692,CH471062,AI570709,AK297223,BC039006,BC077077,CA424493,CR602667,CR611483,D78014,EU007906,Y07818,NM_001197294,FB582079,FB723038 NP_001378,AAF76324,EAW61826,BAG59706,AAH39006,AAH77077,BAA11192,ABV80252,CAA69153,Q14195,Q6DEN2,Q8IXW6,Q9NR93,ACE87513,ACE87530,ACE86827,ACE86843,NP_001184223,CAR95652,CAT03391 Hs.519659 CRMP-4|CRMP4|DRP-3|DRP3|LCRMP|ULIP|ULIP-1 collapsin response mediator protein 4 long|dihydropyrimidinase-related protein 3|unc-33-like phosphoprotein 1 protein-coding 737533 DPYSL4 dihydropyrimidinase-like 4 1580863 9652388,15164054,12477932,11771764,10956643,10851247,10594648,8973361,16169070 10570 NM_006426,AL512622,CH471066,AB006713,BC029280,BC136329,BC136330,BC142974,Y10976 NP_006417,CAI12185,CAI12186,EAW49131,EAW49132,EAW49133,EAW49134,EAW49135,EAW49136,EAW49137,EAW49138,BAA21886,AAI36330,AAI36331,CAA71872,O14531 Hs.100058 CRMP3|DRP-4|ULIP4 CRMP-3|OTTHUMP00000020758|ULIP-4|UNC33-like phosphoprotein 4|collapsin response mediator protein 3|dihydropyrimidinase-related protein 4 protein-coding 733917 DPYSL5 dihydropyrimidinase-like 5 Members of the CRMP family, such as DPYSL5, are believed to play a role in growth cone guidance during neural development.[supplied by OMIM] 632609,632608,1580863 10851247,18769332,18347453,18306241,15489334,14702039,12838519,12477932,12093729,11549731,11220734,11034345,10956643,18931014,16169070 632609,632608 56896 NM_020134,AC011740,AC013472,CH471053,AF157634,AF264015,AJ251275,AK022795,AK127314,AL713706,AW139156,BC002874,BC128218,BT006871,CR620991,FB582081,FB723040 NP_064519,AAX93268,AAY14652,EAX00667,EAX00668,AAF80348,AAK16830,CAB95124,CAD28503,AAH02874,AAP35517,Q53SW3,Q53T73,Q9BPU6,ABM81681,CAR95653,CAT03392 Hs.299315 CRAM|CRMP-5|CRMP5|FLJ45383|Ulip6 CRMP3-associated molecule|DRP-5|ULIP-6|UNC33-like phosphoprotein 6|collapsin response mediator protein 5|collapsin response mediator protein-5|dihydropyrimidinase-related protein 5 protein-coding 1312375 DQX1 DEAQ box RNA-dependent ATPase 1 16344560,14702039,12477932 165545 NM_133637,AC005041,CH471053,AA515987,AK074337,AK092420,BC033238,BC075018,BM987933,DA852016 NP_598376,EAW99626,EAW99627,EAW99628,BAB85056,AAH75018,Q8TE96 Hs.191705 FLJ23757 ATP-dependent RNA helicase DQX1|DEAQ RNA-dependent ATPase DQX1|DEAQ box polypeptide 1 (RNA-dependent ATPase) protein-coding 1313088 DR1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq] 1580863 8764062,8608938,8125298,12927788,15893730,20230619,20936779,8670811,1339312,19204005,18838386,18538002,17584739,16710414,16189514,15574413,15489334,14702039,12477932,11461703,9373149,9040789,8972183,8884286,8836190,19965767,20534741 1810 NM_001938,AL137159,CH471097,AK057541,AK223442,AK311288,AL833729,BC002809,BC035507,BC068553,BT006972,CR590361,CR609983,M97388 NP_001929,CAC17578,EAW73072,EAW73073,EAW73074,EAW73075,EAW73076,BAG51931,BAD97162,CAH56250,AAH02809,AAH35507,AAH68553,AAP35618,AAA58442,Q01658,Q53F47,Q658N3 Hs.348418 NC2|NC2-BETA OTTHUMP00000012557|TATA-binding protein-associated phosphoprotein|negative cofactor 2-beta|protein Dr1 protein-coding 1605066 DRAM damage-regulated autophagy modulator This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. 17397945,17102582,16839881,16839873,16344560,14702039,12477932,17207965,19556885,19706754 55332 NM_018370,AC063950,AC084398,CH471054,AI079438,AK002121,AK094923,BC013773,BC018435,DA721965,AK297785 NP_060840,EAW97685,EAW97686,BAA92091,BAG52956,AAH13773,AAH18435,Q8N682,ADQ31610,BAH12666 Hs.525634 DRAM|FLJ11259 DNA damage-regulated autophagy modulator protein 1|damage-regulated autophagy modulator protein-coding 1604537 DRAM2 DNA-damage regulated autophagy modulator 2 16710414,16303743,15489334,12975309,12477932,18029348,19556885,19895784,20379614 128338 NM_178454,AL355816,CH471122,AK075350,AK309557,AL833098,AY336747,AY358492,BC047025,BC091509,BQ006335,CR598225,CR602380,CR607093,CR613969,CR626576,DC339928,EF710624 NP_848549,CAI19366,EAW56464,EAW56465,EAW56466,EAW56467,EAW56468,BAC11562,AAR02410,AAQ88856,AAH47025,AAH91509,ABR27678,Q6UX65 Hs.485606 MGC54289|PRO180|RP5-1180E21.1|TMEM77|WWFQ154 DNA damage-regulated autophagy modulator protein 2|OTTHUMP00000013685|damage regulated autophagy modulator 2|transmembrane protein 77 protein-coding 1318268 DRAP1 DR1-associated protein 1 (negative cofactor 2 alpha) Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq] 8608938,19204005,17994103,17548813,16713569,16484223,16189514,16169070,15509807,15489334,12927788,12477932,12477712,12471260,11461703,10852970,9418848,8972183,8670811,15893730 10589 NM_006442,AP006287,CH471076,BC010025,BG719065,CR623158,X96506,BG036132,BQ773919 NP_006433,EAW74472,AAH10025,CAA65358,Q14919,ABZ92465 Hs.356742 NC2-alpha dr1-associated corepressor|negative co-factor 2-alpha|negative cofactor 2 alpha protein-coding 70828 DRD1 dopamine receptor D1 This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq] 1580869,2302119,2311600,2302117,1625010,1580863,1600981,1300303,1300302 1831904,1557411,20732903,20734064,20807772,21041608,21083670,20672519,12036966,20127886,1282671,17194762,7838121,8301582,2144334,11500503,19413572,19367581,19235789,19197069,19182156,19176223,19171671,19156168,19153942,19143836,19105202,19086053,19058789,19005068,19000940,18984584,18946469,18937842,18937294,18855532,18832011,18821566,18687376,18676680,18644790,18615540,18558372,18516948,18451638,18424554,18403126,18382271,18366720,18341651,18270970,18237729,18210231,18205172,18197272,18172057,18092181,18030347,18023044,17679637,17506933,17466946,17455212,17395585,17394052,17310237,17092969,17066478,16876683,16846218,16816977,16594948,16424823,16397404,16391193,16344560,16338988,15927089,18413491,15785860,15722953,15717291,15704231,15621009,15607627,15569306,15564897,15549138,15489334,15272078,15247297,15192107,15159403,14993367,14569274,12967601,12966314,12781734,12738794,12646556,12509874,12509438,12497608,12477932,12408866,12181426,12164861,12150791,12047334,11920160,11918350,11893085,11783439,11773080,11723200,11583808,11331877,11140838,10890919,10692483,10618483,10051231,9920093,9457173,8810292,8636408,8264547,2168520,1977312,1975640,20395553,18240029,18583979,18689859,19170196,19523047,19563515,19625176,19647327,19675531,19692168,19695183,19772578,19786093,19864616,19874574,19897079,20071033,20081237,20180564,20351714,20382433,20407490,20452395,20456319,20468064,19913121,20164562,20531939,20592018,20628086,20677014,20714340 1580869,2311600,2302117,1625010,1600981,1300303,1300302 1812 NM_000794,NG_011802,AB065677,AC091393,CH471062,M85247,S58541,X55758,X55760,AF498961,AK314031,BC074978,BC074979,BC096837,CR541922,DA249160,X58987 NP_000785,BAC05902,EAW61376,EAW61377,AAB26273,CAA39284,CAA39286,AAM18131,BAG36741,AAH74978,AAH74979,AAH96837,CAG46720,CAA41734,P21728,Q6FH34 Hs.2624 DADR|DRD1A D(1A) dopamine receptor|OTTHUMP00000161116|dopamine D1 receptor protein-coding 736796 DRD2 dopamine receptor D2 This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq] 1581445,1580874,1580883,1580884,2311602,2311593,2311582,2311594,2311601,2311580,2311554,2311576,2311585,2311586,2311588,2311591,1624999,2311590,2311553,2311579,2311581,2311587,2311589,1625068,1600905,1625010,1358603,1331525,1600903,1600904,1580863 8301582,8413587,10692483,17194762,16839358,8666994,19647327,19603545,19590515,19562769,19547807,19528516,19523047,19513381,19512960,19506906,19506579,19494806,19491387,19486266,19476502,19470168,19457373,19420105,19413407,19396436,19393722,19390575,19390224,19376678,19373123,19372485,19367581,19364291,19352218,19344737,19339912,19339270,19327403,19321766,19309284,19309018,19308877,19304505,19302829,19291230,19285111,19282821,19278736,19273465,19251247,19246443,19238152,19235789,19220487,19217722,19217026,19209988,19207030,19193342,19182156,19176830,19176223,19171671,19156168,19152006,19148742,19143836,19125104,19105202,19086053,19065655,19058789,19046929,19011779,19011428,19005068,19000940,18987627,18984584,18983826,18981718,18946766,18929622,18927395,18926547,18922583,18852217,18838251,18834717,18833581,18829695,18828801,18826531,18821566,18821565,18786813,18729643,18719906,18698520,18690118,18690117,18687376,18676680,18669994,18644790,18636124,18615478,18598772,18595739,18585466,18580852,18579277,18563706,18555060,18552399,18551040,18544160,18538938,18524886,18514919,18511303,18510611,18501970,18499348,18496209,18481021,18480698,18477981,18451638,18445708,18434921,18426314,18418366,18404133,18389501,18382477,18379473,18373412,18367633,18366720,18358985,18354387,18351593,18332900,18332877,18327668,18307984,18305461,18270970,18262320,18261457,18255274,18239643,18232064,18218829,18198266,18197085,18197080,18192895,18188764,18188752,18180754,18175338,18088284,18086475,18077373,18075468,18063936,18063800,18058350,18058343,18037170,18030347,18030083,17989061,17948902,17948892,17943029,17931438,17931435,17928119,17908762,17907820,17903293,17893706,17850642,17784836,17767146,17761687,17728669,17707567,17706924,17681085,17672918,17671965,17669630,17655760,17654295,17651483,17636204,17615493,17593530,17587443,17585060,17564518,17563839,17543096,17535813,17526637,17500623,17476365,17466074,17455212,17453061,17449559,17449448,17446975,17443131,17440951,17417059,17407504,17395585,17394052,17380124,17366345,17365509,17362435,17317773,17267664,17230034,17225991,17214892,17208375,17196743,17189962,17175177,17175058,17174573,17147698,17135598,17120049,17113268,17108814,17105675,17102980,17092971,17087792,17085484,17081059,17079080,17069991,17044099,17039480,17018139,17007976,16977509,16973280,16959057,16901644,16896957,16867246,16846218,16816977,16769201,16766132,16766085,16759339,16751215,16705078,16679343,16648784,16633151,16632165,16585473,16583408,16569110,16526040,16513877,16511856,16427255,16426891,16424823,16402354,16402352,16402081,16278074,16216913,16194726,16191743,16183199,16169407,16160620,16139486,16135640,16123753,16102380,16094250,16085504,16032443,16030094,16026865,15992222,15966462,15955630,15939106,15927089,15920508,15917720,15900211,15896265,15858065,15857609,15852061,15850500,15845322,15830237,15812318,15785860,15784967,15721212,15704216,15696493,15694263,15668731,15567074,15564898,15545020,15542731,15542698,15511716,15492764,15489334,15479180,15390060,15389757,15383158,15381926,15370155,15356268,15347675,15345265,15319572,15318112,15309313,15296817,15286066,15278099,15270299,15229055,15213032,15211624,15203798,15203796,15193608,15184239,15159403,15154861,15140279,15126577,15102843,15094790,15094788,15084894,15077009,15066703,15057523,15050438,14741327,14732864,14732464,14714216,14704269,14668077,14643564,14634838,16396745,16344560,14628173,14610521,14593428,14583797,14581469,14581109,14572625,14570538,14509080,14499480,14499308,13679114,13130378,12970364,12967602,12967601,12957328,12933819,12921907,12898574,12848308,12834818,12815737,12811641,12808427,12804599,12796525,12784121,12782972,12781734,12762588,12749054,12740603,12722176,12712467,12708251,12707934,12679235,12673575,12663049,12627467,12617772,12605103,12556912,12555236,12509874,12497624,12497608,12496294,12482370,12477932,12428723,12422061,12402271,12399954,12395869,12351722,12297500,12217937,12210290,12210271,12192613,12181426,12151753,12149917,12113906,11992560,11979061,11929577,11920858,11920160,11918988,11918350,11911837,11901357,11900611,11872740,11857579,11840503,11818506,11807408,11803529,11783439,11765615,11740982,11728608,11692072,11600186,11579007,11494094,11425949,11409701,11409697,11353448,11343878,11331109,11319183,11304833,11300226,11236836,11236830,11140838,11131175,11104188,11094753,11093282,11054769,11054765,11045783,11024217,10993600,10978845,10753124,10719223,10391935,10220438,10051231,9457173,9166747,8471125,8099194,7902708,7870895,2533064,2532362,2531656,2480527,2144985,2138729,2137193,1837284,1835903,1478642,1363862,11320256,11278324,15247457,20067857,20188195,20561550,20122683,20410875,20629610,2834384,20554017,20962241,20970071,18331682,20063113,20305604,19275926,18259088,1331329,14617818,17584641,18240029,18583979,19158809,19170196,19251454,19318729,19504620,19524093,19582781,19625176,19632986,19634929,19636338,19654188,19664686,19669131,19692168,19693267,19701675,19717274,19739106,19761593,19764934,19766158,19770837,19772578,19789190,19815545,19819938,19835101,19842028,19847912,19874574,19896213,19897017,19900188,19913597,19925838,19929252,19940176,19944766,19956635,19961866,19961902,19968402,19997080,20002020,20033274,20046399,20071033,20081237,20091846,20099571,20116437,20138949,20146828,20150882,20155917,20164326,20170711,20179754,20180013,20194480,20197060,20199723,20205808,20210499,20305408,20308994,20350135,20351714,20357494,20368439,20373846,20375926,20388573,20403997,20410253,20421849,20431429,20436453,20446882,20452395,20461808,20464528,20468064,20472301,20488209,20505554,20526230,20532925,7921596,19913121,20498850,20531939,20554694,20567893,20577142,20588308,20592018,20602615,20628086,20664489,20665240,20672519,20678555,20712524,20714340,20716857,11261743,20691427,20732903,20734064,20807772,20862259,20888323,20945430,21039487,21041608,21061227,21063774,21070510,21083670,21084796,21087673,19795175,20349050,18577758,20952497,21040702,21107309 1581445,1580874,1580883,1580884,2311602,2311593,2311582,2311594,2311601,2311580,2311554,2311576,2311585,2311586,2311588,2311591,1624999,2311590,2311553,2311579,2311581,2311587,2311589,1625068,1600905,1625010,1358603,1331525,1600903,1600904 1813 NM_016574,NM_000795,NG_008841,AB065860,AF050737,AP002840,CH471065,M77249,S58589,X51646,AB209832,AB451480,AF176812,AK308777,BC021195,BF437994,DA693976,M29066,M30625,S62137,S69899,X51362,X51645,HC295428 NP_057658,NP_000786,BAC06078,AAC78779,EAW67219,EAW67220,EAW67221,EAW67222,EAW67223,EAW67224,EAW67225,AAA52328,AAB26274,CAB37869,BAD93069,BAG70294,AAF61479,AAH21195,AAA52761,AAA88023,AAA88024,AAB26819,AAB20571,CAA35746,CAB56463,P14416,Q59EH9,Q6LDH7,ABM82846,ABM86030,CBJ06538 Hs.73893 D2DR|D2R D(2) dopamine receptor|dopamine D2 receptor|dopamine receptor 2|dopamine receptor D2 isoform|seven transmembrane helix receptor 2289454 BW298_H protein-coding 1605735 DRD3 dopamine receptor D3 This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq] 1626358,1626359,1626357,1625068 14499480,12967601,12960753,12834818,12811641,12808427,12796525,12781734,12740603,12721816,12673575,12632798,12605102,12605094,12555237,12509874,12497614,12497608,12477932,12218663,12210290,12207142,12181426,12109967,12082567,12062911,12047334,11920858,11911837,11864723,11857579,11839369,11796958,11762133,11723200,11673801,11490179,11478419,11425949,11400029,11384839,11378841,11341481,11149951,11140838,11140333,11121180,11104840,11063791,11024217,10978845,10670776,10432116,10391209,9457173,9288103,9034004,8678117,8415635,7961889,2129115,1975644,1916765,19086053,12351722,11320256,9843378,8301582,8413587,10692483,18424554,8815892,7911712,7907363,16839358,18325483,8666994,12860355,19647327,19645064,19562769,19524641,19506906,19506579,19503018,19457373,19439249,19396436,19367581,19363270,19358223,19353703,19352218,19309018,19302829,19275926,19266703,19235789,19217756,19217026,19207030,19156168,19142409,19105202,19095219,19092771,19058789,19041186,19041097,19011428,19000940,18987889,18987627,18831971,18821566,18756291,18703116,18644790,18637033,18636124,18609439,18579277,18562401,18552399,18551040,18510611,18496209,18484990,18481021,18472202,18451638,18449897,18404133,18393218,18389501,18379473,18366720,18351593,18348205,18320559,18316228,18295456,18270970,18218829,18197272,18045777,18043709,17924589,17923483,17784836,17698325,17671965,17662480,17593530,17579840,17466074,17429404,17407504,17225991,17208375,17175177,17171662,17119697,17109713,17102980,17039480,17018139,16969276,16959057,16816977,16809426,16759339,16650084,16583407,16513329,16424823,16395310,16160620,16094250,16056149,15998189,15935433,15917720,15785860,15695058,15687500,15643094,15635698,15626824,15567076,15564898,15553379,15539862,15520413,15500962,15489334,15390060,15383158,15342129,15121186,15102843,15094788,15083167,15081259,15004255,14732464,14681904,14634838,14628173,20732903,20734064,20945430,21041608,21083670,21097933,20970071,10415668,14519448,14617818,18240029,18583979,19106782,19464960,19494806,19520868,19522735,19604093,19636338,19653907,19669131,19693267,19766158,19772578,19874574,19897343,19956635,19997080,20029384,20071033,20180013,20218802,20236178,20334932,20351714,20379614,20399505,20434388,20452395,20456319,20468060,20468064,19913121,20565774,20602615,20628086,20667458,20672519,20714340,2834384,18577758,20952497,20188195 1626358,1626359,1626357,1625068 1814 NM_000796,NM_033663,NG_008842,A19667,AC092896,AC093010,AF148807,AF263450,AJ271348,CH471052,L35903,U25441,AK292309,AY228454,AY228455,AY228456,AY228457,AY228458,AY228459,BC095510,BC128122,BC128123,L20469,U32499 NP_000787,NP_387512,CAA01483,AAK28307,CAB70095,EAW79605,EAW79606,EAW79607,EAW79608,EAW79609,EAW79610,EAW79611,EAW79612,AAA64369,AAB08750,BAF84998,AAH95510,AAI28123,AAI28124,AAA03543,AAA73929,P35462,Q13167,Q9BXX6,Q9NY31 Hs.121478 D3DR|ETM1|FET1|MGC149204|MGC149205 D(3) dopamine receptor|OTTHUMP00000214909|OTTHUMP00000214910|dopamine D3 receptor|essential tremor 1 protein-coding 736138 DRD4 dopamine receptor D4 This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq] 2311591,1358608,1625010,1331525,1600948,1580863 11583250,11353451,11496369,11449401,11449395,11443530,11431226,11354829,19713452,15044110,14755438,14702261,14699430,14634838,14623368,14605948,14583797,14581929,14569271,14560322,13129658,12960764,12947560,12898574,12860364,12808433,12808427,12796525,12773616,12764221,12740593,12729944,12687422,12668354,12650952,12648742,12627471,12624717,12606846,12605102,12579508,12556912,12509874,12497614,12497608,12452539,12393313,12232779,12223255,12210280,12192625,12192624,12192615,12142540,12140774,11992560,11992558,11986982,11950104,11901357,11866166,11803443,11803441,11756666,11728608,15048652,11718085,11684336,9843378,1319557,1840645,8413587,12297500,15755724,7512953,12860355,12888781,7921596,16839358,11126393,11409696,19506906,19493320,19490304,19418498,19409950,19397860,19393859,19367581,19364291,19352218,19333405,19330578,19298319,19275926,19251248,19238168,19235789,19219857,19209222,19156168,19146920,19125104,19105202,19092778,19058789,19025233,19017022,19000940,18991844,18951431,18947481,18937842,18826531,18821566,18769827,18715757,18715282,18690118,18690117,18676680,18665883,18606032,18603262,18579277,18563476,18554167,18544160,18540916,18510611,18451638,18446263,18434921,18409686,18379473,18371940,18366720,18361436,18358985,18332898,18331372,18330705,18303015,18270970,18270821,18239643,18232064,18214865,18194028,18191458,18188752,18171914,18167517,18094258,18081165,18063936,18063308,18028530,17973921,17970718,17955458,17955457,17948872,17931440,17931437,17931433,17922530,17893706,17879560,17850946,17822780,17763983,17705902,17680609,17679637,17671965,17657431,17657171,17627031,17611740,17608284,17593530,17587443,17579368,17579349,17574217,17572775,17560555,17556853,17525975,17525955,17508995,17501935,17495196,17474108,17474081,17466074,17440951,17440932,17407504,17406960,17394052,17387332,17325714,17309802,17239353,17236545,17214892,17191306,17178609,17175058,17175015,17171658,17171657,17157268,17156756,17146015,17130883,17109713,17089069,17077808,17052389,17044099,17039480,17028370,17025189,16996722,16945348,16930369,16921721,16917940,16894395,16887146,16874007,16829780,16822313,16819620,16816977,16815339,16781678,16774975,16770765,16760922,16756688,16741944,16736234,16723017,16703401,16619053,16585476,16526060,16493876,16472910,16455620,16429431,16424823,16389711,16354504,16344718,16342279,16331654,16319504,16316914,16314756,16281377,16272956,16252386,16223700,16182111,16178931,16178930,16167465,16165273,16152802,16143039,16086296,15985158,15917720,15909295,15900228,15860340,15845322,15843770,15839794,15785860,15738935,15724142,15717291,15694263,15662148,15655563,15640766,15627814,15627807,15621215,15578612,15565493,15564898,15522250,15519116,15517431,15513263,15390060,15383158,15364409,15341274,15319572,15312696,15292670,15288435,15274053,15211638,15206004,17023870,15102340,15094788,15094785,15048658,15048656,11324944,11282178,11244482,11244477,11140838,11054777,11054768,10050966,9457173,9118321,8746407,8741875,8528256,7881421,7726213,1358063,1349574,14499480,18240029,18583979,19170196,19336242,19602428,19615421,19625176,19653907,19655343,19672140,19673036,19673052,19692168,19695183,19696961,19717274,19767592,19772578,19782129,19789190,19818050,19827313,19858760,19874574,19899572,19906444,19914604,19932171,19956635,20001112,20006992,20019071,20021692,20026092,20033274,20038544,20040103,20046398,20046399,20090380,20116437,20146095,20150884,20156565,20172533,20175141,20203140,20205808,20210499,20218801,20336060,20351714,20359751,20398908,20407490,20410729,20421849,20468064,20468066,20468072,20473794,8889548,19913121,20164562,20551163,20593420,20600463,20602615,20610847,20623607,20628086,20644990,20661272,20629147,20672519,20678555,20685009,20714340,20729761,20731709,20736997,20801104,20807239,18577758,2834384,20419368,20691427,20732903,20954761,21039487,21063133,21083670 2311591,1358608,1625010,1331525,1600948 1815 AF395216,AB065765,AB107017,AB107018,AB107019,AF395210,AF395211,AF395212,AF395213,AF395214,AF395215,NM_000797,AF395217,AF395218,AF395219,AF395220,AF395221,AF395222,AF395223,AF395224,AF395225,AF395226,AF395227,AF395228,AF395229,AF395230,AF395231,AF395232,AF395233,AF395234,AF395235,AF395236,AF395237,AF395238,AF395239,AF395240,AF395241,AF395242,AF395243,AF395244,AF395245,AF395246,AF395247,AF395248,AF395249,AF395250,AF395251,AF395252,AF395253,AF395254,AF395255,AF395256,AF395257,AF395258,AF395259,AF395260,AF395261,AF395262,AF395263,AF395264,AP006284,AY151027,AY151029,AY151030,AY151031,AY151032,AY151033,AY151034,AY151035,AY151036,AY151037,AY151038,CH471158,L12397,S82917,S82918,EU432112,L12398,S76942,BM674709,NG_021241 NP_000788,BAC05985,BAD00718,BAD00719,BAD00720,AAL35159,AAL35160,AAL35161,AAL35162,AAL35163,AAL35164,AAL35166,AAL35167,AAL35168,AAL35169,AAL35170,AAL35171,AAL35172,AAL35173,AAL35174,AAL35175,AAL35176,AAL35177,AAL35178,AAL35179,AAL35180,AAL35181,AAL35182,AAL35183,AAL35184,AAL35185,AAL35186,AAL35187,AAL35188,AAL35189,AAL35190,AAL35191,AAL35192,AAL35193,AAL35194,AAL35195,AAL35196,AAL35197,AAL35198,AAL35199,AAL35200,AAL35201,AAL35202,AAL35203,AAL35204,AAL35205,AAL35206,AAL35207,AAL35208,AAL35209,AAL35210,AAL35211,AAL35165,AAL35212,AAL35213,AAN73253,AAN73255,AAN73256,AAN73257,AAN73258,AAN73259,AAN73260,AAN73261,AAN73262,AAN73263,AAN73264,EAX02369,AAL58637,AAB46802,AAB46803,ABY87911,AAB59386,AAB33728,P21917,Q0MTB8,Q16303,Q76E76,Q8IZB1,Q8IZB2,Q8IZB3,Q8IZB4,Q8IZB5,Q8IZB6,Q8IZB7,Q8IZB8,Q8IZC0,Q8NGM5,Q8WTQ0,Q8WTQ5,Q8WTR3,Q8WTR5,Q8WTR9,Q8WTS5,Q8WTS7,Q8WTT3,Q8WTT6,Q8WTT7,Q8WXL5,Q8WXL6,Q8WXL7,Q8WXL8,Q8WXL9,Q8WXM0,Q8WXM1,Q8WXM3,Q8WXM4,Q8WXM5,Q8WXM6,Q8WXM7,Q8WXM8,Q8WXM9,Q8WXN0,Q8WXN1,Q8WXN2,Q8WXN3,Q8WXN4,Q8WXN5,Q8WXN6,Q8WXN7,Q8WXN8,Q8WXN9,Q8WXP0,Q8WXP1,Q8WXP2,Q8WXP3,Q8WXP4,Q8WXP5,Q8WXP6,Q8WXP7,Q99586,Q99587,AAI72267 Hs.99922 D4DR D(2C) dopamine receptor|D(4) dopamine receptor|dopamine D4 receptor|dopamine receptor 4|seven transmembrane helix receptor protein-coding 731837 DRD5 dopamine receptor D5 This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq] 1580887,734899,1600981,1358609,1580863 20164562,20531939,20714340,7633397,1532789,9457173,1826762,16352863,7727453,11036203,10531415,11500503,19506906,19352218,1387108,19266703,19171671,19156168,19105202,19086053,19058789,19024005,18855532,18665883,18636124,18563476,18464932,18270970,18172057,18164132,18081165,17579368,17501935,17427194,17394052,17325714,16774975,16526040,16389711,16380908,15717291,15635698,15489334,14755441,14732464,14699430,14581671,14509667,12967601,12700316,12660802,12623966,12509874,12477932,12351722,12047334,11781417,11459908,11445276,11353446,11140838,11054773,11024217,10659839,10391209,9603210,8288248,1834671,1833775,1831904,1774076,18240029,19397556,19673036,19682861,19772578,19786093,19874574,20006992,20180564,20398908,20468060,20468064,12036966,20734064,21083670 1580887,734899,1600981,1358609 1816 NM_000798,NG_012024,AC098976,CH471069,M67439,U21164,X58454,AK313897,AY136750,BC009748 NP_000789,EAW92679,AAA52329,CAA41360,BAG36620,AAN01276,AAH09748,P21918,ABM82859,ABM86046 Hs.380681 DBDR|DRD1B|DRD1L2|MGC10601 D(1B) dopamine receptor|D1beta dopamine receptor|d(5) dopamine receptor|dopamine D5 receptor|dopamine receptor 5|dopamine receptor D1B protein-coding 1349573 DRD5P1 dopamine receptor D5 pseudogene 1 1387108 1817 NG_005112,AB065661,AC027612 BAC05887,Q8NGW2 pseudo 1354254 DRD5P2 dopamine receptor D5 pseudogene 2 7890157,1765268,1387108 1818 NG_005113,AB065590,AL513526 BAC05819,Q8NH22 pseudo 1312753 DRG1 developmentally regulated GTP binding protein 1 1580863 9824680,1280421,18029348,19058789,17178897,16189514,15489334,15461802,15184886,12702552,12477932,10760581,10591208,8649774,7929244,1449490,16169070 4733 NM_004147,AL096701,AL096702,CH471095,AF078103,AJ005940,AK098576,AK315659,AL133085,BC019285,BC020803,BT007237,BU584654,CR456488,CR542059,CR590091,CR591838,CR598092,CR608295,CR608931,CR608940,CR610738,CR610947,CR617097,CR618006,CR625851 NP_004138,CAI12876,CAH71744,EAW59974,EAW59975,EAW59976,AAD12240,CAA06775,BAG38025,CAB61403,AAH19285,AAH20803,AAP35901,CAG30374,CAG46856,Q9UFA5,Q9Y295,CAK54479,CAK54778,ABM81616,ABM84798 Hs.115242 DKFZp434N1827|NEDD3 DRG-1|NEDD-3|developmentally regulated GTP-binding protein 1|developmentally-regulated GTP-binding protein 1|neural precursor cell expressed developmentally down-regulated protein 3|neural precursor cell expressed, developmentally down-regulated 3 protein-coding 1343223 DRG2 developmentally regulated GTP binding protein 2 The DRG2 gene encodes the developmentally regulated GTP-binding protein 2, a name derived from the fact that it shares significant similarity to known GTP-binding proteins. DRG2 was identified because it is expressed in normal fibroblasts but not in SV40-transformed fibroblasts. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 20877624,7929244,16189514,15489334,15113831,14702039,12477932,11997338,10828610,10760581,10552926,9605870,9434906,18029348 1819 CR624701,AC087164,CH471196,AB209340,AK095755,AK295575,AK297569,AK313362,BC000493,BC062572,BT006976,CR591061,CR593963,CR602137,CR604263,CR610770,CR613675,CR619498,CR620496,NM_001388,X80754 NP_001379,EAW55669,EAW55670,EAW55671,BAD92577,BAG58474,BAG59960,BAG36162,AAH00493,AAP35622,CAA56730,P55039,Q53Y50,Q59FW9,ABM81694,ABM84855 Hs.78582 DRG-2|developmentally regulated GTP-binding protein 2|developmentally-regulated GTP-binding protein 2 protein-coding 1353814 DRGX dorsal root ganglia homeobox 728579 7496632 728579 644168 NM_001080520,AC027674,AL138760,CH471187 NP_001073989,A6NNA5,EAW93100 Hs.534530 DRG11|PRRXL1 dorsal root ganglia homeobox protein|paired related homeobox-like 1|paired-like homeodomain trancription factor DRG11|paired-related homeobox protein-like 1 protein-coding 732671 DRP2 dystrophin related protein 2 Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. Dystrophin related protein 2 is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. [provided by RefSeq] 1580863 8640231,18401567,17105906,17044845,16854501,15858820,15027329,14702039,12951196,12679234,12477932,11430802,10767429,16344560,17851739 1821 NM_001939,AL022155,CH471115,Z68331,Z70281,AB209305,AK091670,AK289825,AK295843,BC036095,BC111695,U43519,DA324498,NG_016403,NM_001171184 NP_001930,EAX02844,EAX02845,EAX02846,CAI42016,CAO03505,BAD92542,BAF82514,BAG58652,AAI11696,AAC50538,Q13474,Q59G04,Q5H9K0,NP_001164655 Hs.159291 MGC133255 DRP-2|dystrophin-related protein 2|dystrophin-related protein 2 a-form splice variant protein-coding 1321863 DSC1 desmocollin 1 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 9810708,7679953,17562024,17088906,16628198,15140019,14673151,12707304,12231347,11790773,11442746,11027496,10644442,9606214,9214392,9192840,8884173,8507556,8486729,8288219,7971964,7665906,1713860,19615732,20562859 1823 NM_024421,NM_004948,AC012417,AF293358,CH471088,Y11051,CU444724,CU447407,X72925,Z34522 NP_077739,NP_004939,AAG23424,AAG23425,EAX01252,EAX01253,CAA51428,CAA51429,CAA84278,CAA84279,Q08554,Q9HB00,AAI48350 Hs.567260 CDHF1|DG2/DG3 cadherin family member 1|desmocollin-1|desmosomal glycoprotein 2/3 protein-coding 1319763 DSC2 desmocollin 2 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 2037591,18957847,18819935,18678517,18632414,17963498,17186466,17088906,17033975,16740002,16335952,20621329,9074502,8889548,8507556,8486729,7959727,7929347,7774948,7750520,2112455,1889810,15489334,12707304,12477932,11870231,11853539,11790773,10737800,9810708,9443898,9404003,9325054,19863551,20031616,20031617,20197793,20215590,20525856 1824 NM_024422,NM_004949,NG_008208,AC012417,CH471088,CS456343,CS456345,Y08431,AK290313,AK297029,BC063291,BE813598,BU735677,BX648425,CR749226,DC382631,EF017811,EF017812,X56807 NP_077740,NP_004940,EAX01250,EAX01251,CAL91822,CAL91823,BAF83002,BAG59557,AAH63291,CAH56152,CAH18082,ABM88170,ABM88171,CAA40141,CAA40142,Q02487,Q63HM4,Q68DY8 Hs.95612 ARVD11|CDHF2|DG2|DGII/III|DKFZp686I11137|DSC3 cadherin family member 2|desmocollin-2|desmosomal glycoprotein II|desmosomal glycoprotein II/III|desmosomal glycoprotein III protein-coding 1323416 DSC3 desmocollin 3 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 20628624,7929347,19348003,19287461,18464913,17846785,17088906,16168112,15951569,12789271,12707304,11500511,11408939,11181078,11027496,10769211,10482015,9810708,8884173,8486729,7959727,7774948,7665906,1889810,12615965,19717567,19765682,20379614,7983064 1825 NM_001941,NM_024423,AC025212,AF293359,CH471088,AF297090,AK074475,AK291748,BG697535,CR600534,D17427,X83929,NG_016782 NP_001932,NP_077741,AAG23426,AAG23427,EAX01247,EAX01248,EAX01249,AAG17896,BAF84437,BAA04249,CAA58781,Q14574,Q9HAX1 Hs.41690 CDHF3|DSC|DSC1|DSC2|DSC4|HT-CP cadherin family member 3|desmocollin-3|desmocollin-4 protein-coding 732493 DSCAM Down syndrome cell adhesion molecule 734901,1580863 16009131,9426258,19240061,19211897,19196994,18519826,18197079,15169762,12435380,12051741,10925149,10830953,18585357,19945391,20379614,21079520 734901 1826 AF023449,AF042090,AF042091,AF043945,AF064862,AF064863,AF064864,AF064865,AF064866,AF165176,AL163281,AL163282,AL163283,CH471079,AB209136,NM_001389,AF023450,AF086100,AF217525,AF289030,BE503065 NP_001380,CAB90444,CAB90436,CAB90464,EAX09620,EAX09621,BAD92373,AAC17966,AAC17967,AAF27525,AAL56711,O60469,Q59GH3,Q8WY19 Hs.397800 CHD2-42|CHD2-52 CHD2|Down syndrome cell adhesion molecule|OTTHUMP00000109194|human CHD2-52 down syndrome cell adhesion molecule protein-coding 1312583 DSCAML1 Down syndrome cell adhesion molecule like 1 1580863 11453658,12051741,19074352,18519826,12421765,12168954,10574461,19945391,20201926,20379614 57453 NM_020693,AP000711,AP000757,AP001554,AP002342,CH471065,AB032958,AF304304,AF304305,AF334384,AF491813,AK025940 NP_065744,EAW67322,EAW67323,BAA86446,AAN32613,AAN32614,AAL57166,AAM09558,Q8TD84,AAI56377 Hs.659513 KIAA1132 Down syndrome cell adhesion molecule-like protein 1|Downs syndrome cell adhesion molecule like 1|down syndrome cell adhesion molecule 2 protein-coding 1604296 DSCC1 defective in sister chromatid cohesion 1 homolog (S. cerevisiae) 20826785,16344560,14702039,12975309,12930902,12766176,12477932,12171929,19907496,16682347 79075 NM_024094,AC021945,AP005717,CH471060,AK054585,AK058129,AK074355,AK315356,AW149121,AY358866,BC001316,BC001531,CR614540,DA346021 NP_076999,EAW91994,EAW91995,BAB70767,AAQ89225,AAH01316,AAH01531,Q9BVC3,ABM82193,ABM85381 Hs.315167 DCC1|MGC5528 defective in sister chromatid cohesion protein 1 homolog|sister chromatid cohesion protein DCC1 protein-coding 1353222 DSCR10 Down syndrome critical region gene 10 15489334,12477932,12168953,20485444 259234 NR_027695,AP001425,CH471079,AB066291,AW663423,BC093855,BX115939 EAX09688,BAC07550,AAH93855,P59022 Hs.147695 miscrna 1315747 DSCR3 Down syndrome critical region gene 3 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. 1580863 16780588,15489334,12477932,10830953,9503011,9399594 10311 NM_006052,AP001412,AP001432,CH471079,AJ001867,AK126461,AK307465,AK312707,BC110655,BX648191,CR624431,D87343,AK299662,AK300024,AK303624,AK316460,NG_009410 NP_006043,EAX09710,EAX09711,EAX09712,EAX09713,EAX09714,CAA05058,BAG35585,AAI10656,BAA23225,O14972,O60768,BAH13092,BAH13197,BAH14000,BAH14831 Hs.369488 DCRA|DSCRA|MGC117385 Down syndrome critical region protein 3|Down syndrome critical region protein A|OTTHUMP00000109096 protein-coding 1352817 DSCR4 Down syndrome critical region gene 4 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. This gene is found in this region and multiple transcripts may exist. It is mainly expressed in the placenta. 18086574,16288839,15489334,12477932,10830953,9503011,9455479 10281 NM_005867,AP001409,AP001410,AP001417,AP001420,CH471079,AB000099,AI817192,BC069729,BC096162,BC096163,BC096164,DQ179113 NP_005858,EAX09691,BAA25877,AAH69729,AAH96162,AAH96163,AAH96164,P56555,ADR82732 Hs.23251 DCRB|DSCRB Down syndrome critical region protein 4|Down syndrome critical region protein B protein-coding 1318761 DSCR6 Down syndrome critical region gene 6 10814524,10830953 53820 NM_018962,AP000704,CH471079,AB037158,AB037159,AB037160,AB037161 NP_061835,EAX09729,EAX09730,BAA96867,BAA96868,BAA96869,BAA96870,P57055,AAI46276,AAI56712 Hs.254560 RIPPLY3 down syndrome critical region protein 6|protein ripply3 protein-coding 1353764 DSCR8 Down syndrome critical region gene 8 15489334,15472897,12477932,12213769,12036297,11920614,11329013,9503011 84677 AJ306839,AJ306840,AJ783421,BC015981,BC029353,BC070229,BC117304,BC117330,BC143995,BG189423,NR_026838,NR_026839,NR_026840,NR_026841,NR_026842,AP001417,CH471079,AA707621,AA770014,AF321193,AF426256,AJ001904,AJ297914,AJ301615,AJ305085 CAC84766,CAC84765,CAH03845,Q684H4,Q6EXA9,Q96T75,EAX09689,EAX09690,AAK52673,AAM53512,CAC82786,CAD29791,CAH03994 Hs.192371 C21orf65|CT25.1a|CT25.1b|MMA-1|MMA-1a|MMA-1b|MMA1|MTAG2 miscrna 1350545 DSCR9 Down syndrome critical region gene 9 (non-protein coding) 20463881,17207965,15489334,12477932,12168953 257203 NR_026719,AP001432,CH471079,AB066100,AB212286,AB212287,AB212288,AB212289,AB212290,AB212291,AK313458,BC029827,BC066653 ADQ33075,EAX09715,BAC07549,BAG36245,P59020 Hs.720778 NCRNA00038 miscrna 1312897 DSE dermatan sulfate epimerase The protein encoded by this gene is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 16505484,10679095,16344560,15489334,14702039,14574404,12477932,11920522,11092984,19004833 29940 NM_001080976,NM_013352,AL050331,AL590542,CH471051,Z84488,AF098066,AK095123,AK128607,AL832471,BC039245,DB282412,AK301513 NP_001074445,NP_037484,EAW48229,EAW48230,CAI23407,CAI23408,AAF00087,BAG54699,AAH39245,Q9UL01,ABM82187,ABM85373,BAH13501 Hs.458358 DSEPI|SART2 DS epimerase|OTTHUMP00000017059|SART-2|chondroitin-glucuronate 5-epimerase|dermatan-sulfate epimerase|squamous cell carcinoma antigen recognized by T cells 2|squamous cell carcinoma antigen recognized by T-cells 2|squamous cell carcinoma antigen recognized by t cells 2 protein-coding 1317082 DSEL dermatan sulfate epimerase-like 16505484,15489334,14702039,12556911,12477932,11752456,19734545,20125088,20358601 92126 NM_032160,AC110597,CH471117,AF480435,AK021539,AK021849,AK023067,AV656576,BC062557,BC117325 NP_115536,EAW66502,AAN32895,BAB13912,AAH62557,AAI17326,Q8IZU8,Q9HAD7 Hs.124673 C18orf4 NCAG1|dermatan-sulfate epimerase-like protein protein-coding 1320531 DSG1 desmoglein 1 Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. [provided by RefSeq] 1598781,1580863,2316254 1770008,12582396,12485422,16286477,1711210,19546243,19157795,19136012,19018793,18752129,18637128,18331528,17960181,17640963,17194569,17058228,17056584,16740002,16628198,16484817,16242304,16026580,15610512,15606501,15140227,14675185,12880431,12880414,12847106,12787134,12707304,12209366,12093888,12058255,11790773,11294567,10332028,9606214,9443898,9405290,8143788,8034325,7790000,7738346,1889810,1754823,1720352,17353931,17643375,19453789,19571823,19615732,19717567,20116975,20208534,7983064 1598781,2316254 1828 NM_001942,NG_011803,AC009717,AJ001716,CH471088,AF088042,AF097935,AK302888,BX476267,X56654 NP_001933,CAA04949,EAX01254,AAC83817,BAH13831,CAA39976,Q02413,Q712V6,AAI48375,AAI53002 Hs.2633 CDHF4|DG1|DSG|PPKS1|SPPK1 DGI|cadherin family member 4|desmoglein-1|desmosomal glycoprotein 1|pemphigus foliaceus antigen protein-coding 1322446 DSG2 desmoglein 2 Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq] 1580863 19091121,18987342,18975006,18707543,18678517,18632414,18596851,18029348,17804817,17559062,17495963,17227756,17105751,17081983,16820949,16773573,16505173,16335952,16212419,15342556,15146197,12787134,12754519,12707304,12477932,11853539,11790773,11710948,10769205,10482015,20525856,9579833,9511724,9214392,8749329,8641550,8143788,7790000,1935985,1612610,19458482,19863551,20031616,20031617,20224006,20400443,20459474,20215590,19913121,20628086 1829 NM_001943,NG_007072,AC021549,AC079096,CH471088,AK308408,BC014581,BC014584,BC017410,BC022413,BC065747,BC067229,BC099655,BC099656,BC099657,BP353513,CN347023,CN395083,DC417739,DR158777,Z26317 NP_001934,EAX01261,EAX01262,AAH99655,AAH99656,AAH99657,CAA81226,Q14126 Hs.412597 ARVC10|ARVD10|CDHF5|CMD1BB|HDGC|MGC117034|MGC117036|MGC117037 HDGC|cadherin family member 5|desmoglein-2 protein-coding 1348238 DSG3 desmoglein 3 (pemphigus vulgaris antigen) Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This protein has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris. [provided by RefSeq] 1580863 20618495,11500511,19348003,19342368,19287199,19164289,18641320,18637128,18586466,18505410,18434319,18343367,18095943,17846785,17640963,17532189,17431647,17428808,17255524,17113829,17084439,16878157,16842599,16763546,16740002,16403096,16377623,16344560,16015083,14675184,12953062,12787134,12707304,12586364,12496453,12485422,12477932,12138195,11710914,11425269,10949543,9710446,9424092,9405290,9074502,8663392,8320263,8143788,8034325,7738346,1720352,1601426,19678820,19772629,20093368 1830 NM_001944,AC021549,CH471088,CS223365,U52195,Y08432,AI608626,AK290367,BC063544,BC105997,BX110234,BX507120,BX538327,DA447747,DA458544,M76482,U51696 NP_001935,EAX01258,EAX01259,CAJ46922,BAF83056,CAD98098,AAA60230,P32926,Q7Z2Z5 Hs.1925 CDHF6|DKFZp686P23184|PVA 130 kDa pemphigus vulgaris antigen|130-kD pemphigus vulgaris antigen|cadherin family member 6|desmoglein 3 (pemphigus vulgaris antigen)|desmoglein-3|pemphigus vulgaris antigen protein-coding 1348036 DSG4 desmoglein 4 1599796,1302434,1580863 15304105,16297213,16433681,16439973,16543896,16575393,17294735,19683850,17392831,16533311,16382669,15545999,15489334,15191570,12705872,12648213,12477932 1599796,1302434 147409 NG_013040,NM_177986,NM_001134453,AC021549,AY177663,CH471088,CS223437,AY168788,AY177664,AY227350,AY228236,BC039098,BC132907,BC132909,HH935352,HI939082,HI939195,HI939308,HI987378,HI988533,HI988646 NP_817123,NP_001127925,AAO47077,EAX01256,EAX01257,CAJ46939,AAO43657,AAO47078,AAP45000,AAP49811,AAH39098,AAI32908,AAI32910,Q86SJ6,CBX36877,CBY79749,CBY79768,CBY79787,CBY88743,CBY88771,CBY88790 Hs.407618 CDGF13|CDHF13|LAH CDH family member 13|cadherin family member 13|desmoglein-4 protein-coding 1353084 DSN1 DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 15502821,16585270,18029348,12477932,11780052,15371340,17207965,18640974,18097444,17081983,16565220,15489334,14702039,17981135 79980 NM_001145317,NM_001145315,NM_001145316,NM_024918,AL132768,CH471077,AA534892,AK023408,AK093031,AK290738,NM_001145318,AK301671,AK301840,BC026011,BC035821,BC058899,CR593336,CR594821 NP_001138790,NP_001138789,NP_001138787,NP_001138788,NP_079194,CAC10099,CAI21465,CAI21466,CAI21468,CAI21469,CAI21470,EAW76101,EAW76102,EAW76103,EAW76104,EAW76105,EAW76106,EAW76107,EAW76108,BAB14564,BAC04024,BAF83427,BAG63144,BAG63283,AAH26011,AAH58899,Q4G1A1,Q5JW53,Q5JW54,Q5JW55,Q5JW57,Q5JW58,Q9H410,ADQ32591 Hs.632268 C20orf172|FLJ13346|KNL3|MGC32987|MIS13|dJ469A13.2|hKNL-3 OTTHUMP00000030876|OTTHUMP00000030877|OTTHUMP00000030878|chromosome 20 open reading frame 172|kinetochore null 3 homolog|kinetochore-associated protein DSN1 homolog protein-coding 1314043 DSP desmoplakin Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq] 1580890,1580891,1580892,1580863 20634891,19913121,20628086,7525582,2391353,2247105,1889810,1731325,1716629,1689290,12615965,12707304,17353931,10908733,9887343,19271751,19016709,18632414,18596851,17593084,17475244,16917092,16628197,16565220,16467215,16365169,16175511,16061754,15941723,15500642,15494820,15381698,15302935,15190119,15146197,14574404,12875771,12482924,12426320,12373648,12366696,12101406,11955647,11841538,11790773,11790298,11132762,11063735,10852826,10801826,10737800,10594734,9780002,9739078,9651377,9606214,9417921,9348293,9261168,8999895,7525601,20936779,20525856,11500511,12477932,19386346,19863551,19924139,19945626,20031617,20215590,20524011 1580890,1580891,1580892 1832 NM_004415,NM_001008844,NG_008803,AL031058,CH471087,AB209992,AF139065,AI304615,AK130229,AK296756,AK301676,AK304182,AL713599,AL713610,AW890985,BC140802,BC144587,CN282963,J05211,M77830,HM151899,CS673426,CS673464,CS690809,CS690847,FB665562,FB665600,GM706774,GM706812 NP_004406,NP_001008844,CAA19927,EAW55215,BAE06074,AAF19785,BAC85309,BAG59338,BAG63149,BAG65062,AAI40803,AAA35766,AAA85135,P15924,Q4LE79,Q6ZP16,ADI58529,CAP07480,CAP07499,CAP11448,CAP11467,CAR97062,CAR97081,CAT82278,CAT82313 Hs.519873 DP|DPI|DPII 250/210 kDa paraneoplastic pemphigus antigen|desmoplakin|desmoplakin I|desmoplakin II protein-coding 69028 DSPP dentin sialophosphoprotein This gene encodes two principal proteins of the dentin extracellular matrix of the tooth. The preproprotein is secreted by odontoblasts and cleaved into dentin sialoprotein and dentin phosphoprotein. Dentin phosphoprotein is thought to be involved in the biomineralization process of dentin. Mutations in this gene have been associated with dentinogenesis imperfecta-1; in some individuals, dentinogenesis imperfecta occurs in combination with an autosomal dominant form of deafness. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq] 734904,1580863 18456718,18211748,17686168,17033625,16920545,16679514,16567553,16108038,16014627,15954904,15371433,15329369,12097430,11856645,11175790,11175779,10980418,10706475,9541230,9541227,9533027,9493074,18521831,18797159,9879917,8995371,19131317,19103209,19029076,19026876,19806576,19834535,20121932,20146806,20201926 734904 1834 NM_014208,NG_011595,AC093895,AF163151,CH471057,EU278634,EU278637,EU278663,EU278672,EU284751,EU284752,EU284753,AF094508,EU278635,GU983874,GU983875 NP_055023,AAF42472,EAX05993,EAX05994,EAX05995,ABX82462,ABX82465,ABX82491,ABX82500,ABZ91540,ABZ91541,ABZ91542,AAD16120,Q9NZW4,ABX82463,ADI24678,ADI24679 Hs.678914 DFNA39|DGI1|DMP3|DPP|DSP|DTDP2 dentin phosphophoryn|dentin phosphoprotein|dentin phosphoryn|dentin sialophosphoprotein|dentin sialoprotein protein-coding 1346596 DSS dosage-sensitive sex reversal 7951319 1605439 DST dystonin This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been known that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq] 11751855,2461961,14581450,18207369,17920818,17161423,17081983,16512878,16344560,15725571,15560761,15489334,15342556,15231748,14705806,14702039,14576348,14574404,12802069,12542537,12482924,12477932,12421765,12168954,11323216,10727295,10637308,9872452,8889549,8575775,11375975,17043677,10428034,10811835,14668477,16757171,19403692,19632184,19932097,20164846,20379614,20936779,18029348,20800603,8889548,8621649,8349819,8345227,8010969,7919656,7818282,3880796,2645368,2579167,2276744,2090522,2045679,1717441,1712022,20479946 667 U31851,X58677,X75692,BU685436,AL590037,CH471081,L08972,S73730,U04850,AA150769,AB018271,AF083131,AF165191,AF400226,AF400227,AK023487,AK025142,AK055189,AK056797,AK090517,AK094883,AK095166,AK096713,AK125655,AK128632,AK294830,AK295864,AK299898,AL110142,AU117550,AY032900,AY032901,BC004912,BC016991,BC023254,BC051772,BC065536,BP348892,BU679879,CD367397,CR615150,CR619332,CR621475,DA449443,DA462108,DA786051,DN994324,L11690,M22942,M63618,M69225,U31850,NM_015548,NM_001723,AL049215,AL096710,AL137008,AL512422,AL512448,AL590005 AAC50243,AAC50244,CAA41528,Q03001,Q5T0V7,Q5TBT1,Q5TF24,Q6P0N6,Q86T18,Q9BSP9,Q9H722,Q9HDA7,Q9UN10,CAI14987,CAI14988,CAI14989,CAI12111,EAX04456,EAX04457,EAX04458,EAX04459,EAX04460,EAX04461,EAX04462,EAX04463,EAX04464,EAX04465,EAX04466,EAX04467,AAA57184,AAA57185,BAA34448,AAF98241,AAD49334,AAL62061,AAL62062,BAB15077,BAB70870,BAC04449,BAG57941,BAH12207,BAG61741,AAK63130,AAK63131,AAH04912,AAH16991,AAH51772,AAH65536,AAA52288,AAA35538,AAA35606,BAC04848,NP_056363,NP_001714,CAI22042,CAI22043,CAI22044,CAI22045,CAI22046,CAI22047,CAI20330,CAI20331,CAI20332,CAI14340,CAI14341,CAI14342,CAI16608,CAI16609,CAI16610 Hs.669931,Hs.604915 BP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DKFZp564B2416|DMH|DT|FLJ46791|KIAA0465|KIAA1470|MACF2 OTTHUMP00000016653|OTTHUMP00000016654|OTTHUMP00000016655|OTTHUMP00000016658|bullous pemphigoid antigen 1|bullous pemphigoid antigen 1, 230/240kDa|dystonia musculorum protein|hemidesmosomal plaque protein|trabeculin-beta protein-coding 1312065 DSTN destrin (actin depolymerizing factor) The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 8399167,17583572,12665801,12477932,11812157,11780052,11418599,8674111,7615564,2156828,12775419,11832213,17353931,17196218,17081983,16189514,15862967,15816841,15489334,15231748,14627701,12700171,20835250 11034 NM_006870,AL132765,CH471133,AI597935,AK302338,AK308562,AK312645,AK315994,BC009477,BX647319,CN482756,CR457042,CR541956,CR591834,NM_001011546,CR596061,CR598189,CR601160,CR602092,CR604335,CR607210,CR608580,CR609251,CR610796,CR612561,CR613178,CR615007,CR622679,CR623027,CR623701,S65738 NP_001011546,NP_006861,CAC10585,EAX10274,EAX10275,EAX10276,BAG63668,BAG35529,BAH14365,AAH09477,CAG33323,CAG46754,AAB28361,P60981 Hs.304192,Hs.705996 ACTDP|ADF|bA462D18.2 actin-depolymerizing factor|bA462D18.2 (destrin (actin depolymerizing factor ADF) (ACTDP))|destrin protein-coding 1347324 DSTNP1 destrin (actin depolymerizing factor) pseudogene 1 387492 4144439 DSTNP2 destrin (actin depolymerizing factor) pseudogene 2 9074930 171220 U72518,NR_033796 Hs.661103 pseudo 4144464 DSTNP3 destrin (actin depolymerizing factor) pseudogene 3 100287016 XM_002342849,XM_002346109,XM_002346996 XP_002342890,XP_002346150,XP_002347037 destrin (actin depolymerizing factor) pseudogene 3 protein-coding 1604373 DSTYK dual serine/threonine and tyrosine protein kinase This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17353931,17123648,15489334,15178406,12477932,10737800,9455484,8889548,7829101 25778 NM_015375,AC093422,CH471067,AB007941,AF068286,AJ420466,AK298011,AY208850,AY429674,BC018303,BC048204,BC053627,BC060870,BC072406,BC117411,BC143603,BF836208,BI494979,NM_199462,BI494980,BU528180,BM685960,BQ946417,BU168830,BU170290,CA950005 NP_955749,NP_056190,EAW91540,EAW91541,EAW91542,EAW91543,EAW91544,BAA32317,AAF65505,BAG60315,AAP42418,AAS55390,AAH48204,AAH53627,AAH60870,AAH72406,AAI17412,AAI43604,ACT64414,Q6XUX3,ACE87798 Hs.6874 DustyPK|HDCMD38P|KIAA0472|RIP5|RIPK5 RIP-homologous kinase|dual serine/threonine and tyrosine protein kinase|dusty PK|dusty protein kinase|receptor interacting protein 5|receptor interacting protein kinase 5|receptor-interacting serine/threonine-protein kinase 5|sgK496|sugen kinase 496 protein-coding 1323478 DTD1 D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein is found in the cytoplasm. [provided by RefSeq] 1580863 15653697,15489334,14702039,12477932,12392168,11780052,8889548,17207965,20065034,20379614 92675 NM_080820,AL121780,AL121900,CH471133,AF332356,AK074304,AK291440,BC000599,BC045167,BC100923,BC100924,BC100925,BC100926,BI465352,BU729150,DB550292 NP_543010,CAI15669,CAH73147,EAX10227,EAX10228,AAL57046,BAB85044,BAF84129,AAH45167,AAI00924,AAI00925,AAI00926,AAI00927,Q496C9,Q8TEA8,ADQ32454 Hs.659442 C20orf88|DUEB|HARS2|MGC119131|MGC41905|bA379J5.3|bA555E18.1|pqn-68 D-tyrosyl-tRNA(Tyr) deacylase 1|DNA-unwinding element-binding protein|histidyl-tRNA synthase-related|histidyl-tRNA synthetase 2|histidyl-trna synthetase 2 protein-coding 3103432 DTHD1 death domain containing 1 12477932,14702039,8889548 401124 AC104078,AK094684,AK131492,AK304357,AK316523,BC157885,BM978838,NM_001136536,NM_001170700 AAI57886,BAD18636,BAG65199,BAH14894,NP_001130008,NP_001164171,Q6ZMT9 Hs.363407 FLJ16686|FLJ37365 OTTHUMP00000218100|death domain containing 1|death domain-containing protein 1 protein-coding 1604818 DTL denticleless homolog (Drosophila) 17041588,18794347,18703516,18649358,18542055,17106265,17085480,16964243,16949367,16861906,16861890,16710414,16344560,15489334,14702039,12477932,11278750,20433742,20932471,20932472,16964240,19615732,19672268 51514 AC092814,AL592297,AL606468,CH471100,AF195765,AF345896,AK000742,AK001206,AK001261,AK027651,AK292343,AK299649,AK303346,BC033297,BC033540,BF508267,NM_016448,DB070033,DQ641253 NP_057532,EAW93395,EAW93396,EAW93397,EAW93398,AAF35182,AAK54706,BAA91355,BAA91552,BAA91586,BAB55267,BAF85032,BAG61569,BAG64408,AAH33297,AAH33540,ABG23317,Q9NZJ0,CAH70697,CAH73803 Hs.656473 CDT2|DCAF2|L2DTL|RAMP DDB1 and CUL4 associated factor 2|DDB1- and CUL4-associated factor 2|RA regulated nuclear matrix associated protein|RA-regulated nuclear matrix-associated protein|denticleless protein homolog|lethal(2) denticleless protein homolog|retinoic acid-regulated nuclear matrix-associated protein protein-coding 1343196 DTNA dystrobrevin, alpha The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580893,1580863 11353857,9119373,10767327,18299519,16713569,16344560,15835271,15834686,15024025,14702039,14623885,12899872,12604589,12477932,12475945,12416719,12206805,12034776,11316798,11238270,11069112,11053421,11053293,10767429,10747910,10735273,10545507,9701558,9533777,9419360,9356463,9215691,9146999,8845841,8631824,8576247,8081380,7844150,19615732,19961569,20379614,17207965 1580893 1837 AK295789,AK296450,AK308410,AK315215,AL833285,BC005300,BC033969,BC047095,BG250424,BG705393,BI668892,BT006937,BX103860,CR611269,CR621250,DA073612,DA142282,DA197970,DA398530,DC327958,R13506,R20627,R45531,T80537,U26742,U26743,U26744,U46744,U46745,U46746,NM_032979,NM_001392,NM_001128175,NM_032978,NM_001390,NM_001391,NM_032980,NM_032981,NG_009201,AC009277,AC013290,AC022601,AC068506,AC103768,AP002411,NM_032975,U84540,U84547,U84551,AB209102,AI368045,AI670964,AJ009668,AK054766,AK291156,AK294746,AK295732,CH471088,FJ535564,FJ535565,CF457303,DN991561,NM_001198938,NM_001198939,NM_001198940,NM_001198941,NM_001198942,NM_001198943,NM_001198944,NM_001198945 BAG58610,BAH12359,AAH05300,AAP35583,AAC50424,AAC50425,AAC50426,AAC50429,AAC50430,AAC50431,Q59GK7,Q9BS59,Q9Y4J8,AAP36484,ACE87187,ACE87219,ACE86506,ACE86539,NP_116757,NP_116761,NP_001383,NP_001121647,NP_116760,NP_001381,NP_001382,NP_116762,NP_116763,EAX01319,EAX01320,EAX01321,EAX01322,EAX01323,EAX01324,EAX01325,EAX01326,EAX01327,EAX01328,EAX01329,EAX01330,EAX01331,EAX01332,EAX01333,AAB58541,AAB58542,AAB58543,BAD92339,CAA08769,BAF83845,BAG57887,BAG58572,ACU00915,ACU00916,ADQ32644,NP_001185867,NP_001185868,NP_001185869,NP_001185870,NP_001185871,NP_001185872,NP_001185873,NP_001185874 Hs.643454 D18S892E|DRP3|DTN|DTN-A|FLJ96209|LVNC1 OTTHUMP00000163151|OTTHUMP00000163152|OTTHUMP00000163154|OTTHUMP00000163155|alpha-dystrobrevin|dystrobrevin alpha|dystrophin-related protein 3 protein-coding 1319991 DTNB dystrobrevin, beta This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 9395493,18391951,16448387,16189514,14759258,14702039,14623885,14600269,12477932,11316798,10747910,10545507,9540997,9419360,9373149,9146999,9110174,8619474,8125298,20530487 1838 R15062,Y12712,Y15718,Y15719,Y15720,Y15721,Y15722,NM_033148,NM_033147,NM_183360,NM_021907,AC010150,AC012074,AC019144,AC104699,CH471053,AF022728,AF070567,AK022277,AK094494,AK225724,AK294174,AK294357,AK300019,AK301386,BC016655,BC049366,BT009805,CR619470,CR622461,DQ160290,NM_183361 Q53SF9,Q53T51,Q53TC8,Q86VR4,Q96AW0,CAA73249,CAA75733,CAA75734,CAA75735,CAA75736,CAA75737,O60941,Q1I0L3,Q53QV1,ABA08463,NP_899205,NP_149160,NP_149159,NP_899204,NP_068707,AAY14840,AAY14762,AAY24111,AAY24207,EAX00719,EAX00720,EAX00721,EAX00722,EAX00723,EAX00724,EAX00725,AAC05082,AAC28643,BAH11688,BAH11744,BAH13195,BAH13469,AAH16655,AAH49366,AAP88807 Hs.307720 MGC17163|MGC57126 DTN-B|OTTHUMP00000201258|OTTHUMP00000201261|beta-dystrobrevin|dystrobrevin beta protein-coding 1342501 DTNBP1 dystrobrevin binding protein 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1358610,1580863 15102850,19369910,19367581,19353385,19335929,19328558,19252939,19219857,19142223,19089808,19077176,19065121,18804346,18797396,18562100,18516516,18473158,18466879,18411704,18314870,18234478,18198266,18182443,18180429,18162312,17989303,17964051,17961984,17945199,17888175,17618940,17604607,17555717,17476109,17445278,17433541,17410640,17408693,17407805,17336946,17300918,17290445,17264804,17192893,17074466,17055463,17033966,16980328,16967465,16959423,16946192,16930638,16899160,16876895,16837549,16513878,16448387,16415041,16407900,16283082,16189514,16133786,16044171,15917270,15820225,15489334,15374586,15362017,15345706,15274041,15248869,15211634,15124027,15124015,15121479,15066891,14702039,14688250,14618545,14574404,12923531,12888799,12808430,12591580,12576321,12477932,12474144,12453182,12191018,12098102,11316798,11230166,20598229,11031247,11252894,17474147,18583979,19349376,19439994,19449336,19475563,19482054,19496996,19497374,19573260,19615732,19617633,19621369,19631276,19650139,19672240,19729970,19782967,19800201,19859905,19862852,19884986,19937977,19996605,20010894,20083391,20180862,20199207,20421849,20921223,18029348,20822372,20829635,20846375,20951386,21041608,20602615,20615259,20615671,20638435,20666140,20174469,19760674 1358610 84062 NM_032122,NM_183040,NG_009309,AL021978,AL022343,CH471087,AF061734,AF394226,AK054593,AK290718,AK310590,AL136637,AY265460,BC011912,BQ108775,CR599171,CR603457,CR623452,AI097393,NR_036448,BX394617 NP_115498,NP_898861,CAI42339,CAI42340,CAI21976,CAI21977,EAW55359,EAW55360,EAW55361,EAW55362,EAW55363,EAW55364,AAG43145,AAL46636,BAB70770,BAF83407,CAB66572,AAP91870,AAH11912,Q96EV8,ACE87243,ACE86561,ACE87605,ACE86918 Hs.571148 DBND|DKFZp564K192|FLJ30031|HPS7|MGC20210|My031|SDY OTTHUMP00000221462|OTTHUMP00000221485|dysbindin|dysbindin-1|hermansky-Pudlak syndrome 7 protein protein-coding 1604324 DTWD1 DTW domain containing 1 12477932 56986 NM_020234,NM_001144955,AC018927,CH471082,AF168717,AK290184,BC018028,BC032535,BC093073,CR621462 NP_064619,NP_001138427,EAW77377,EAW77378,EAW77379,AAF87319,BAF82873,AAH18028,AAH32535,AAH93073,Q8N5C7,ABW03294,ABM81803 Hs.127432 MDS009|MGC111207 DTW domain-containing protein 1|x 009 protein protein-coding 1604482 DTWD2 DTW domain containing 2 19240061,15489334,14702039,12477932,2708378,1612591 285605 AK124328,NM_173666,AC008629,AC010462,CH471086,AK091296,BC012294,BC114508,BC114955,BX648369 NP_775937,EAW48922,EAW48923,EAW48924,EAW48925,BAC03630,AAI14509,AAI14956,Q8NBA8 Hs.655891 FLJ33977|MGC138579|MGC138580 DTW domain-containing protein 2|OTTHUMP00000222971|OTTHUMP00000223087 protein-coding 1353899 DTX1 deltex homolog 1 (Drosophila) Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq] 11564735,7671825,9590294,15489334,12753744,12670957,12617994,12477932,11869684,11153911,9244302,19690564,18628966,11226752,17028573,17474147 1840 NM_004416,AC089999,CH471054,AF053700,BC005816,BC008321,BC048216,CR620865 NP_004407,EAW98028,EAW98029,AAC06246,AAH05816,AAH48216,Q86Y01 Hs.372152 hDx-1 deltex1|hDTX1|protein deltex-1 protein-coding 1322389 DTX2 deltex homolog 2 (Drosophila) 16189514,17286044,16713569,16400609,16344560,15489334,15342556,14702039,12853948,12670957,12477932,11564735,11226752,10819331,9847074,7671825,15778465 113878 NM_001102594,NM_001102595,NM_001102596,AC005522,AC007078,CH471325,AB040961,AK023924,AK026252,AK293226,AY225124,AY225125,BC008856,BC013192,BC018555,BC026059,BC064535,BC093079,BP306192,CR604084,DA003606,DA917716,DQ010329,DQ082728,DQ082730,NM_020892 NP_065943,NP_001096064,NP_001096065,NP_001096066,AAP21881,AAS07525,EAW50382,BAA96052,BAB14727,BAG56765,AAP57518,AAP57519,AAH08856,AAH18555,AAH26059,AAH64535,AAH93079,AAY27263,AAZ06433,AAZ06435,Q4FEB2,Q4FEB4,Q4ZH49,Q6P2H0,Q6XM87,Q75MM6,Q86UW9,ABM84190,ABM87592 Hs.187058 KIAA1528|MGC71098|RNF58 OTTHUMP00000208415|deltex2|hDTX2|protein deltex-2|ring finger protein 58|zinc ion binding protein protein-coding 1347578 DTX3 deltex homolog 3 (Drosophila) 1580863 17028573,14702039,12670957,12477932,11226752,7671825,19549727 196403 NM_178502,AC022506,AC025165,CH471054,AK092085,AK094385,AK128752,AL831941,AY225126,BC035831,BC114441,BC114498 NP_848597,EAW97032,EAW97033,EAW97034,EAW97035,BAC03801,BAC04344,BAG54727,CAD38593,AAP57520,AAI14442,AAI14499,Q53ZZ2,Q8N9I9 Hs.32374 FLJ34766|MGC138863|MGC138864|RNF154 RING finger protein 154|deltex 3 homolog|deltex3|protein deltex-3 protein-coding 1344833 DTX3L deltex 3-like (Drosophila) 737633,1580863 18618715,16809771,15489334,14702039,12670957,12477932,19818714,19549727 737633 151636 NM_138287,AC092908,CH471052,AF484416,AK093782,AK125086,AL833598,AY225123,AY780792,BC016846,BC040372,BC042191,BC060509,BX648267,BX648645,AK025135 NP_612144,EAW79476,AAL90859,BAG54138,AAP57517,AAV98362,AAH42191,AAH60509,Q8TDB6 Hs.518201 BBAP B-lymphoma- and BAL-associated protein|E3 ubiquitin-protein ligase DTX3L|protein deltex-3-like|rhysin 2|rhysin-2|rhysin2 protein-coding 1323395 DTX4 deltex homolog 4 (Drosophila) 1580863 15684394,15489334,12477932,10231032 23220 NM_015177,AP001258,AP002358,CH471076,AB023154,AF086290,BC015592,BC119011,BC122861,BF195769,CR607077 NP_055992,EAW73838,BAA76781,AAI19012,AAI22862,Q9Y2E6 Hs.523696 KIAA0937|MGC141899|RNF155 RING finger protein 155|deltex 4 homolog|deltex4|protein deltex-4 protein-coding 1320047 DTYMK deoxythymidylate kinase (thymidylate kinase) 1580863 8845311,18469,8024690,18413751,15489334,12614151,12477932,11008000,9373149,8125298,6244089,2538159,2017365,17643375 1841 AC133528,AC133781,CH471063,AF258562,AK126180,AK223434,BC001827,BC147006,BC147010,BC171894,BC171903,NM_012145,BG765702,BM552707,BQ021114,CF528035,CR541986,CR542015,CR593291,CR599450,CR604693,CR606301,CR620414,CR623128,L16991,X54729,AA446104,AW273041,BC171902,CX166352,NM_001165031,NR_033255 NP_036277,AAY14920,EAW71282,EAW71283,EAW71284,EAW71285,EAW71286,AAG23765,BAD97154,AAH01827,AAI47007,AAI47011,CAG46783,CAG46812,CAA38528,P23919,Q53F55,Q6FGU2,Q8WY85,AAI71902,NP_001158503 Hs.471873 CDC8|FLJ44192|MGC198617|PP3731|TMPK|TYMK OTTHUMP00000200145|OTTHUMP00000200146|dTMP kinase|thymidylate kinase protein-coding 1320917 DULLARD dullard homolog (Xenopus laevis) 1580863 12083771,12477932,17420445,17141153,17157258 23399 NM_015343,NM_001143775,AC003688,AC120057,CH471108,AJ011916,AY364239,BC009295,CR599503,CR606307,CR609735,CR611348,CR620750,CR625645,CR626679 NP_056158,NP_001137247,EAW90233,EAW90235,EAW90236,CAA09865,AAQ76798,AAH09295,O95476,ABM84056,ABM87408 Hs.513913 DULLARD|HSA011916|NET56 dullard homolog|serine/threonine-protein phosphatase dullard protein-coding 1345114 DUOX1 dual oxidase 1 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX2. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 727755,1580863 10806195,11514595,16111680,10601291,15062544,19144650,18606821,18281478,18177232,17337509,17135261,16608528,16478776,15972824,15677770,15640347,15561711,15489334,15210697,14702039,12824283,12482831,12477932,11822874,11762710,11753072,11443211,20709024,19339556,19460756,19730683,19952225,20056178,20085766,20346360 727755 53905 NM_017434,NM_175940,AC051619,AC091117,CH471082,AF213465,AF230495,AK075268,AK128591,AK172859,AK290372,AL137592,BC114628,BC114938 NP_059130,NP_787954,EAW77295,EAW77296,EAW77297,AAF71295,AAF73921,BAD18816,BAF83061,CAB70831,AAI14629,AAI14939,Q14C85,Q9NRD9,Q9NT13 Hs.272813 LNOX1|MGC138840|MGC138841|NOXEF1|THOX1 NADPH thyroid oxidase 1|dual oxidase 1|flavoprotein NADPH oxidase|large NOX 1|long NOX 1|nicotinamide adenine dinucleotide phosphate oxidase|thyroid oxidase 1 protein-coding 1353863 DUOX2 dual oxidase 2 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq] 727755,734905 20511343,19339556,19759286,19789206,19952225,20056178,20346360,20381453,10806195,10737800,15972824,16111680,10601291,15062544,19144650,18765513,18281478,18177232,17684392,17374849,16651268,16608528,16478776,16322276,16134168,15677770,15591162,15561711,15210697,15150274,12824283,12110737,11822874,11762710,11753072,11514595,11443211,11032719,19913121,20531308,20628086,20826581 727755,734905 50506 NM_014080,NG_009447,AC091117,CH471082,AB209010,AF181972,AF230496,AF267981,BI045475 NP_054799,EAW77288,BAD92247,AAF20055,AAF73922,AAF78954,Q59GU9,Q9NRD8 Hs.71377 LNOX2|NOXEF2|P138-TOX|TDH6|THOX2 NADH/NADPH thyroid oxidase p138-tox|NADPH oxidase/peroxidase DUOX2|NADPH thyroid oxidase 2|dual oxidase 2|dual oxidase-like domains 2|flavoprotein NADPH oxidase|large NOX 2|long NOX 2|nicotinamide adenine dinucleotide phosphate oxidase|p138 thyroid oxidase|thyroid oxidase 2 protein-coding 1602196 DUOXA1 dual oxidase maturation factor 1 15489334,14702039,14670962,12477932,19339556,19074510,16651268,16254247,19322654,20056178 90527 NM_144565,AC091117,CH471082,AK056896,AK292771,BC020841,BC029819,DQ489735,EU927394,EU927395,EU927396,EU927397 NP_653166,EAW77290,EAW77291,EAW77292,EAW77293,EAW77294,BAB71304,BAF85460,AAH20841,AAH29819,ABF48257,ACH57453,ACH57454,ACH57455,ACH57456,Q1HG43 Hs.356664 FLJ32334|NIP|NUMBIP|mol dual oxidase activator 1|dual oxidase maturation factor 1|dual oxidase maturation factor 1 alpha|dual oxidase maturation factor 1 beta|dual oxidase maturation factor 1 delta|dual oxidase maturation factor 1 gamma|homolog of Drosophila Numb-interacting protein|numb-interacting protein protein-coding 1603235 DUOXA2 dual oxidase maturation factor 2 DUOX1 (MIM 606758) and DUOX2 (MIM 606759) constitute the catalytic core of the H2O2 generator required for thyroid hormone synthesis at the plasma membrane of thyroid follicular cells (see MIM 188450). DUOXA2, a resident endoplasmic reticulum (ER) protein, is required for the maturation and plasma membrane localization of DUOX2 (Grasberger and Refetoff, 2006 [PubMed 16651268]).[supplied by OMIM] 12477932,18700007,19339556,18042646,17374849,16651268,16344560 405753 BM987789,DC393748,NG_016992,NM_207581,AC091117,CH471082,AK303955,BC137465,BX537581,DB243076,DQ489734 NP_997464,EAW77289,BAG64881,AAI37466,ABF48256,Q1HG44 Hs.497987 SIMNIPHOM|TDH5 dual oxidase maturation factor 2 protein-coding 1321010 DUPD1 dual specificity phosphatase and pro isomerase domain containing 1 17498703,12477932,19851299 338599 NM_001003892,AC018511,CH471083,AY686755,BC137321,BC137322 NP_001003892,EAW54560,AAT94288,AAI37322,AAI37323,Q68J44 Hs.535090 DUSP27|FMDSP atypical dual-specific protein phosphatase|dual specificity phosphatase 27|dual specificity phosphatase DUPD1 protein-coding 1349024 DURS1 Duane's retraction syndrome 1 7849713 10674 1351671 DURS2 Duane retraction syndrome 2 10577917 27011 1605962 DUS1L dihydrouridine synthase 1-like (S. cerevisiae) 15489334,12477932 64118 NM_022156,AC135056,CH471099,AF202637,AK226154,AK298330,AL539521,BC003659,BC017081,BC062566,BC064918,BG709424,BM907569,CR593820,CR595450,CR595531,CR597476,CR605112,CR613860,CR614184,CR618091 NP_071439,EAW89743,EAW89744,AAG22491,BAG60579,AAH03659,AAH17081,AAH62566,AAH64918,Q6P1R4,Q9BTJ3,Q9HBV3,ADR83302 Hs.514599 DUS1|PP3111 tRNA-dihydrouridine synthase 1-like protein-coding 1603040 DUS2L dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) Dihydrouridine synthase catalyzes reduction of the 5,6-double bond of a uridine residue on the displacement loop of tRNA. The resultant modified base, 5,6-dihydrouridine, appears to increase the conformational flexibility and dynamic motion of tRNA (Kato et al., 2005 [PubMed 15994936]).[supplied by OMIM] 14702039,12477932,18096616,15994936,15489334,17207965,20877624 54920 NM_017803,AC130462,CH471092,AB101210,AK000406,AK290578,AK296663,BC006527,CR593912,CR611004,CR613036,CR624298,HB962190,HC470471,HD019600,CS415678 NP_060273,EAW83207,EAW83208,EAW83209,BAE07219,BAA91143,BAF83267,BAG59260,AAH06527,Q9NX74,ADQ32741,CBG15707,CBL54451,CBV29153,CAL48157 Hs.534460 DUS2|FLJ20399|SMM1|URLC8 hDUS2|tRNA-dihydrouridine synthase 2-like|up-regulated in lung cancer 8|up-regulated in lung cancer protein 8 protein-coding 1604330 DUS3L dihydrouridine synthase 3-like (S. cerevisiae) 16344560,15489334,14702039,12477932,9373149 56931 NM_020175,NM_001161619,AC011499,CH471139,AF074704,AF091072,AK023958,AK225840,AK297037,AK315691,AL365411,BC004549,BC008362,BC009973,CR598491,DA839738 NP_064560,NP_001155091,EAW69141,EAW69142,EAW69143,EAW69144,EAW69145,EAW69146,AAC72941,BAB14740,BAG59565,BAG38054,CAB96955,AAH04549,AAH08362,AAH09973,O95323,Q96G46,ACE87732,ACE87050 Hs.284297 DUS3|FLJ13896 tRNA-dihydrouridine synthase 3-like protein-coding 1602492 DUS4L dihydrouridine synthase 4-like (S. cerevisiae) 15489334,12690205,12477932,8889549,14499622,20237496,21068099 11062 NM_181581,AC002381,AC004839,CH236947,CH471070,AA157330,AK127802,AK294095,AK297195,AK308472,AL523141,AW954755,BC111774,BG250736,BQ771928,BU621752,CR602101,CR605496,CR625341,U62767 NP_853559,EAL24391,EAW83399,EAW83400,EAW83401,EAW83402,EAW83403,EAW83404,BAG57433,BAG59682,AAI11775,AAD00100,O95620 Hs.97627 DUS4|MGC133233|PP35 2310069P03Rik|protein similar to E.coli yhdg and R. capsulatus nifR3|tRNA-dihydrouridine synthase 4-like protein-coding 732954 DUSP1 dual specificity phosphatase 1 The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. [provided by RefSeq] 1580863,2293881,2298672,2298690,2298693,2298673,2298676,2298697,2298698,2298678,2301725,2298677,2298694,633769,2298695 19913121,20145951,20628086,20673984,20689807,1406996,16286470,19417026,19262425,19032224,19020052,18782768,18726921,18723442,18519678,18490444,18477563,18441094,18434324,18403641,18367666,18314542,18178562,18095520,18089824,18003751,17848570,17761948,17690186,17681939,17638884,17489738,17131384,17073741,16951204,16387640,16293973,16289033,16224818,16081065,16044158,15677475,15614136,15590693,15569826,15489334,15448190,15339908,15247770,15173070,15059515,14724291,14702039,14680833,14551204,12960255,12947325,12890671,12765304,12506119,12477932,12432554,12391149,12356755,12080474,11278799,11062068,10617468,9599409,9571625,8390041,8389479,8221888,8168826,8106404,7806236,7535770,11359773,20936779,20375469,20353815,20708668,19411256,19553005,19604093,19648110,19697705,19724859,19755862,19793766,19797979,19940143,20043958,20089808,20100830,20228065,20805296,20953200 2293881,2298672,2298690,2298693,2298673,2298676,2298697,2298698,2298678,2301725,2298677,2298694,633769,2298695 1843 NM_004417,AC022217,CH471062,CS300525,DQ301957,FJ695205,U01669,AK298047,AK298658,AK299391,AK300487,AK304475,AK316321,BC022463,CR602951,CR615379,CR625400,X68277,HI574182,AA843403 NP_004408,EAW61425,EAW61426,CAK32189,ABB96250,BAG60344,BAG60826,BAG61376,BAG62202,BAG65288,BAH14692,AAH22463,CAA48338,P28562,CBX47580 Hs.171695 CL100|HVH1|MKP-1|MKP1|PTPN10 MAP kinase phosphatase 1|dual specificity protein phosphatase 1|dual specificity protein phosphatase hVH1|mitogen-activated protein kinase phosphatase 1|protein tyrosine phosphatase, non-receptor type 16|protein-tyrosine phosphatase CL100|serine/threonine specific protein phosphatase protein-coding 1321979 DUSP10 dual specificity phosphatase 10 Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAPK superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAPKs, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK, but not MAPK/ERK. Its subcellular localization is unique; it is evenly distributed in both the cytoplasm and the nucleus. This gene is widely expressed in various tissues and organs, and its expression is elevated by stress stimuli. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 2293881,2301725 20936779,10597297,9571625,11157753,18029348,11060451,10391943,18314537,17681939,17400920,17151092,16806267,16710414,16565220,15489334,12477932,11359773,19913121,20628086,20379614,16341674,20972440 2293881,2301725 11221 HC192022,HC192024,NM_007207,NM_144728,AL590966,CH471100,AB026436,AF179212,AK022513,AK293287,BC020608,BC031405,BC063826,NM_144729,BQ000769,BQ082194,BQ223632,CR457092 CBI69376,CBI69577,AAH63826,NP_653330,NP_009138,NP_653329,CAH71120,EAW93283,EAW93284,EAW93285,EAW93286,EAW93287,BAA81668,AAD51857,BAB14070,BAG56811,AAH20608,AAH31405,CAG33373,Q6IAR2,Q9Y6W6,ABM86183,ABW03693 Hs.497822 MKP-5|MKP5 dual specificity phosphatase MKP-5|dual specificity protein phosphatase 10|map kinase phosphatase 5|mitogen-activated protein kinase phosphatase 5|serine/threonine specific protein phosphatase protein-coding 1315996 DUSP11 dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq] 1580863 20383145,9685386,15635413,15489334,15342556,12477932,10347225,16169070,19120688 8446 NM_003584,AC092653,CH471053,AF023917,AK315271,BC000346,BP349009,BP359552,CR608498,CR627368 NP_003575,EAW99718,EAW99719,AAC39925,BAG37685,AAH00346,CAH10467,O75319,ABM82282,ABM85463 Hs.14611 PIR1 RNA/RNP complex-1-interacting phosphatase|RNA/RNP complex-interacting phosphatase|dual specificity protein phosphatase 11|phosphatase that interacts with RNA/RNP complex 1|serine/threonine specific protein phosphatase protein-coding 731810 DUSP12 dual specificity phosphatase 12 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq] 1580863 18029348,19567874,20103624,19087671,18973475,10446167,18269685,16936214,16710414,16189514,15489334,12477932,8670865,16169070 11266 NM_007240,AL359541,CH471067,AF119226,AK000259,BC006286,BT006633,CR599391,CR603104,CR611136,CR619976 NP_009171,CAH74153,EAW90692,AAD51134,AAH06286,AAP35279,Q9UNI6,ABM83692,ABM87010 Hs.416216 DUSP1|YVH1 YVH1 protein-tyrosine phosphatase ortholog|dual specificity protein phosphatase 12|dual specificity tyrosine phosphatase YVH1|serine/threonine specific protein phosphatase protein-coding 1344710 DUSP13 dual specificity phosphatase 13 Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq] 1580863 10585869,17044055,16189514,15761153,15489334,15252030,15164054,14702039,12477932,16385451 51207 NM_001007272,NM_001007273,NM_001007271,NM_016364,AL392111,CH471083,AB027004,AB103375,AI971328,AK057012,AK127886,AK291891,AK291897,AK300679,AY040091,AY674051,BC009778,BU580940,CR457094 NP_001007273,NP_001007274,NP_001007272,NP_057448,CAI40905,EAW54561,EAW54562,EAW54563,EAW54564,BAA89412,BAD91014,BAG51843,BAG54592,BAF84580,BAF84586,BAG62362,AAK77966,AAT79356,AAH09778,CAG33375,Q6B8I1,Q9UII6,ABM83658,ABM86905 Hs.726495 BEDP|DUSP13A|DUSP13B|FLJ32450|MDSP|SKRP4|TMDP OTTHUMP00000019875|branching-enzyme interacting DSP|branching-enzyme interacting dual-specificity protein phosphatase|dual specificity phosphatase SKRP4|dual specificity protein phosphatase 13|dual specificity protein phosphatase 13 isoform MDSP|dual-specificity phosphatase SKRP4|muscle-restricted DSP|testis- and skeletal-muscle-specific DSP protein-coding 1316598 DUSP14 dual specificity phosphatase 14 In addition to antigen recognition by the T-cell receptor, T-cell activation requires a second signal from a costimulatory receptor, such as CD28 (MIM 186760), which interacts with B7-1 (CD80; MIM 112203) and B7-2 (CD86; MIM 601020) ligands on antigen-presenting cells. CD28 costimulation induces transcription of interleukin-2 (IL2; MIM 147680) and stabilizes newly synthesized IL2 through the activation of mitogen-activated protein kinases (MAPKs), such as ERK (e.g., MAP2K4; MIM 601335) and JNK (see MIM 601158), and the subsequent creation of AP1 transcription factor (see MIM 165160). DUSP14 is a negative regulator of CD28 signaling.[supplied by OMIM] 1580863 18201568,17178844,15489334,12477932,11123293,20694014,19228121,19770498 11072 NM_007026,AC004099,CH471199,AF038844,AF120032,AK027210,AK314894,BC000370,BC001894,BC004448,CR536500,CR541800,CR595784,CR598453,CR599138,CR603252,CR604963,CR606946,CR608141,CR617844,CR623101,CR623161,CR623231,CR625439 NP_008957,EAW57592,EAW57593,AAD02105,AAF28861,BAG37408,AAH00370,AAH01894,AAH04448,CAG38739,CAG46599,O95147,Q6FI36,ABM82305,ABM85482,ABW03434 Hs.91448 MKP-L|MKP6 MAP kinase phosphatase 6|MKP-1 like protein tyrosine phosphatase|MKP-1-like protein tyrosine phosphatase|MKP-6|OTTHUMP00000164064|OTTHUMP00000164065|dual specificity protein phosphatase 14|mitogen-activated protein kinase phosphatase 6 protein-coding 1314347 DUSP15 dual specificity phosphatase 15 The protein encoded by this gene belongs to the non-receptor class of the protein-tyrosine phosphatase family. The encoded protein has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 15138252,17474147,16170801,15489334,14702039,12477932,11780052,10737800,17207965 128853 NM_080611,NM_177991,NM_001012644,AL160175,CH471077,AI051640,AK091960,AL732169,BC056911,BF377396,BI517878,BI560652,BI562598,BI829823,CR617339 NP_542178,NP_817130,NP_001012662,CAI12819,CAI12820,CAI12821,CAI12822,EAW76409,EAW76410,BAG52450,AAH56911,Q9H1R2,ADQ32528 Hs.585017 FLJ40111|VHY OTTHUMP00000214530|VH1-related member Y|dual specificity phosphatase-like 15|dual specificity protein phosphatase 15|vaccinia virus VH1-related dual-specific protein phosphatase Y 2316046 GLUCO192_H protein-coding 1321793 DUSP16 dual specificity phosphatase 16 The activation of mitogen-activated protein kinase (MAPK) cascades transduces various extracellular signals to the nucleus to induce gene expression, cell proliferation, differentiation, cell cycle arrest, and apoptosis. For full activation of MAPKs, dual-specificity kinases phosphorylate both threonine and tyrosine residues in MAPK TXY motifs. MKPs are dual-specificity phosphatases that dephosphorylate the TXY motif, thereby negatively regulating MAPK activity.[supplied by OMIM] 1580863,2293881 20551953,11489891,19307591,15888437,15689616,15489334,14702039,14586399,12794087,12524447,12477932,11359773,11214970,16344560,19228121,20122898,20379614,20936779 2293881 80824 NM_030640,AC007619,AC092824,CH471094,AB051487,AB052156,AF506796,AK022103,AK055973,AL137633,AY038927,BC031643,BC042101,BC109234,BC109235,AK093617,AK098310,DB094627,NG_021402 NP_085143,EAW96262,EAW96263,EAW96264,BAB21791,BAB40814,AAN75120,BAB71060,AAK69770,AAH31643,AAH42101,AAI09235,AAI09236,Q32MA0,Q8IVT8,Q8N5T1,Q96N49,Q96QS2,Q9BY84 Hs.536535 FLJ36298|FLJ40991|KIAA1700|MGC129701|MGC129702|MKP-7|MKP7 MAP kinase phosphatase 7|MAPK phosphatase-7|dual specificity protein phosphatase 16|mitogen-activated protein kinase phosphatase 7 protein-coding 1315821 DUSP18 dual specificity phosphatase 18 DUSP18 is a member of the dual-specificity phosphatase (DSP) family (see DUSP1; MIM 600714), which catalyzes dephosphorylation of phosphotyrosine and phosphothreonine residues (Hood et al., 2002 [PubMed 12408986]).[supplied by OMIM] 1580863 16720344,16699184,15489334,15461802,14702039,12591617,12477932,12408986,19228121 150290 NM_152511,AC003072,CH471095,AF461689,AF533017,AI699242,AK025036,AK056074,BC004110,BC028724,BC030987,CR456406 NP_689724,EAW59913,EAW59914,EAW59915,AAN77931,AAN59787,BAG51616,AAH30987,CAG30292,Q8NEJ0,CAK54395,CAK54694 Hs.517544 DSP18|DUSP20|LMWDSP20|MGC32658|bK963H5.1 LMW-DSP20|OTTHUMP00000199181|OTTHUMP00000199182|OTTHUMP00000199183|OTTHUMP00000199204|OTTHUMP00000199205|OTTHUMP00000199206|OTTHUMP00000199207|dual specificity protein phosphatase 18|low molecular weight dual specificity phosphatase 20 protein-coding 1316661 DUSP19 dual specificity phosphatase 19 2314491,1580863 11959861,15815621,15489334,14702039,12479873,12477932,11959862,19228121 2314491 142679 NM_080876,NM_001142314,AC064871,CH471058,AB038770,AB063186,AB063187,AF486808,AK094800,AK125657,AK314078,BC035000,BC093958,BC112005,BC143337,BX647818 NP_543152,NP_001135786,AAY24197,EAX10949,EAX10950,EAX10951,BAB82499,BAB83498,BAB83499,AAO49450,BAG36776,AAH35000,AAH93958,AAI12006,Q8WTR2,ABM82132,ABM85315 Hs.132237 DUSP17|LMWDSP3|MGC138210|SKRP1|TS-DSP1 LMW-DSP3|SAPK pathway-regulating phosphatase 1|dual specificity phosphatase TS-DSP1|dual specificity protein phosphatase 19|low molecular weight dual specificity phosphatase 3|protein phosphatase SKRP1|stress-activated protein kinase pathway-regulating phosphatase 1 protein-coding 1314060 DUSP2 dual specificity phosphatase 2 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq] 1580863 19913121,20628086,7681221,8107850,18600034,18178562,17827388,17471234,16288922,15489334,14680939,12826159,12673251,12575935,12477932,7806236,7590752,7535770,19797078 1844 NM_004418,AC012307,CH471207,U23853,AF331843,BC007771,CR609480,CR613393,CR614078,DB475178,L11329 NP_004409,AAY24222,EAW71384,EAW71385,EAW71386,EAW71387,EAW71388,AAA86112,AAL57044,AAH07771,AAA50779,Q05923,Q8WXV0,ACE87730,ACE87048 Hs.1183 PAC-1|PAC1 dual specificity protein phosphatase 2|dual specificity protein phosphatase PAC-1|dual-specificity phosphatase 2|serine/threonine specific protein phosphatase protein-coding 1343692 DUSP21 dual specificity phosphatase 21 This gene encodes a member of the dual specificity phosphatase family, specifically the low molecular weight dual specificity phosphatase family. The encoded protein localizes to both the cytoplasm and the nucleus and functions to remove phosphate groups from phosphotyrosine and phosphothreonine residues. 12408986,15772651,15489334,12477932 63904 NM_022076,AL133545,CH471141,AA813372,AF143321,AF533018,AY121807,AY156515,BC119755,BC119756,CR457159,NG_013231 NP_071359,CAC10195,EAW59369,AAD33910,AAN59788,AAM82755,AAO17295,AAI19756,AAI19757,CAG33440,Q9H596,Q9Y346 Hs.534478 LMWDSP21|MGC149878 BJ-HCC-26 tumor antigen|LMW-DSP21|dual specificity protein phosphatase 21|low molecular weight dual specificity phosphatase 21 protein-coding 1316166 DUSP22 dual specificity phosphatase 22 1580863 9205128,17384676,17068812,15489334,15252450,15138252,14702039,14574404,12477932,12138158,11733513,11717427,11346645,20018849 56940 NM_020185,AL365272,CH878723,AB208997,AF165519,AK000383,AK074410,AK128760,AK296402,AF424702,AK310653,AY249859,BC009209,BC016844,BC022847,BX648953,CR596349,DQ786251 NP_064570,CAH72534,CAH72535,EAW53895,BAD92234,AAF86649,AAL18850,BAG59068,AAP76376,AAH16844,AAH22847,Q9NRW4,ABM84319,ABM87714 Hs.29106 FLJ35864|JKAP|JSP1|LMWDSP2|MKPX|VHX JNK-stimulating phosphatase 1|JNK-stimulatory phosphatase-1|JSP-1|LMW-DSP2|MAP kinase phosphatase x|MKP-x|dual specificity protein phosphatase 22|homolog of mouse dual specificity phosphatase LMW-DSP2|low molecular weight dual specificity phosphatase 2|mitogen-activated protein kinase phosphatase x protein-coding 1319412 DUSP23 dual specificity phosphatase 23 1580863 16169070,20453000,16710414,15489334,15281913,15201283,15147733,14702039,12477932,20509867,19913121,20628086 54935 NM_017823,AL590560,CH471121,AB164404,AF086553,AK000449,BC001140 NP_060293,CAH71101,EAW52775,BAD12141,BAA91172,AAH01140,Q9BVJ7 Hs.425801 DUSP25|FLJ20442|LDP-3|MOSP|RP11-190A12.1|VHZ OTTHUMP00000033306|VH1-like member Z|VH1-like phosphatase Z|dual specificity protein phosphatase 23|low molecular mass dual specificity phosphatase 3|low-molecular-mass dual-specificity phosphatase 3 protein-coding 1604602 DUSP26 dual specificity phosphatase 26 (putative) 20877624,19043453,16924234,16581800,15796912,14702039,12477932,20562916,17001450,20347885,17207965 78986 AC013603,CH471080,AB103376,AB158288,AB237597,AK055704,AY902194,BC001613,BC003115,BC067804,CR591909,CR604644,CR608742,CR609273,CR616533,CR621684,NM_024025 NP_076930,EAW63392,EAW63393,EAW63394,BAD91015,BAD82942,BAE46506,BAB70991,AAX07132,AAH01613,AAH03115,AAH67804,Q9BV47,ADQ31661 Hs.8719 DUSP24|LDP-4|MGC1136|MGC2627|MKP8|NATA1|SKRP3 DSP-4|MAP kinase phosphatase 8|MKP-8|Novel amplified gene in thyroid anaplastic cancer|dual specificity phosphatase SKRP3|dual specificity protein phosphatase 26|dual-specificity phosphatase SKRP3|low-molecular-mass dual-specificity phosphatase 4|mitogen-activated protein kinase phosphatase 8 protein-coding 1603599 DUSP27 dual specificity phosphatase 27 (putative) 14702039,12477932,19536175,20379614,20520587 92235 NM_001080426,AL158837,AF119045,AK094814,BC115387 NP_001073895,CAH69958,AAK02011,AAI15388,Q5VZP5 Hs.632462 OTTHUMP00000032345|inactive dual specificity phosphatase 27 protein-coding 1605823 DUSP28 dual specificity phosphatase 28 12477932 285193 NM_001033575,AC124862,CH471063,BC036198,BG656420,BQ777661 NP_001028747,EAW71192,AAH36198,Q4G0W2 Hs.369297 DUSP26|VHP OTTHUMP00000201460|OTTHUMP00000201461|dual specificity phosphatase 28 protein-coding 1345861 DUSP3 dual specificity phosphatase 3 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq] 1580863 17322878,1281549,19010898,18505570,18311544,17785772,17278098,16604064,16344560,15489334,14702039,12840032,12477932,12447358,11238845,11085983,10224087,8650541,7874108,7829094,7829067,11863439,7876121,7961745,15276183 1845 NM_004090,AC003098,AC055813,CH471178,AB451424,AK055834,AK129822,AK226170,AL049417,BC002682,BC008286,BC035701,BQ575811,BQ652984,BT019522,BU177084,CR609831,DA075379,DA104250,DA167802,DB171573,L05147 Q8IYJ9,ABM84048,ABM87398,NP_004081,EAW51667,EAW51668,BAG70238,AAH02682,AAH35701,AAV38329,AAA35777,P51452 Hs.181046 VHR dual specificity protein phosphatase 3|dual specificity protein phosphatase VHR|serine/threonine specific protein phosphatase|vaccinia H1-related phosphatase|vaccinia virus phosphatase VH1-related protein-coding 1348525 DUSP4 dual specificity phosphatase 4 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq] 1580863,2301725 11062068,17322878,7535768,18178562,17452331,17145763,16038800,15489334,12477932,11387337,10862698,9205128,8889548,8626452,8545112,19415758,19525976,19843478,20124482,20860659,20339536,15276183,20725992 2301725 1846 NM_057158,NM_001394,AC084262,CH471080,AK314820,AL137704,BC002671,BC014565,BG760517,BU742141,CR623380,S80632,U21108,U48807 NP_476499,NP_001385,EAW63481,EAW63482,EAW63483,EAW63484,BAG37342,AAH02671,AAH14565,AAB35870,AAA85119,AAC50452,Q13115,Q13649,ACE87150,ACE86469 Hs.417962 HVH2|MKP-2|MKP2|TYP MAP kinase phosphatase 2|VH1 homologous phosphatase 2|dual specificity protein phosphatase 4|dual specificity protein phosphatase hVH2|mitogen-activated protein kinase phosphatase 2|serine/threonine specific protein phosphatase protein-coding 1345576 DUSP5 dual specificity phosphatase 5 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq] 1580863,2317872,2317873 19913121,20628086,20628624,7961985,18927432,18430737,17131384,17078075,15713638,15489334,12944906,12477932,7836374,7829101,7806236,20806045,16385451,19801501,20554528 2317872,2317873 1847 NM_004419,AL355512,CH471066,AB209823,BC062545,BF979291,BI495660,CB991409,CR595355,U15932,U16996 NP_004410,CAI15120,EAW49559,EAW49560,BAD93060,AAH62545,AAA64693,AAB06261,Q16690,Q59EI8,ACE87136,ACE86455 Hs.2128 DUSP|HVH3 VH1-like phosphatase 3|dual specificity protein phosphatase 5|dual specificity protein phosphatase hVH3|serine/threonine specific protein phosphatase protein-coding 1602255 DUSP5P dual specificity phosphatase 5 pseudogene 14702039 574029 NR_002834,AL713899,AK055963,AK092260,CR618637 BAB71058,BAC03838,Q8NAR1,Q96N51 Hs.647777,Hs.719678 FLJ31401|FLJ34941|RP4-621O15.2 pseudo 731297 DUSP6 dual specificity phosphatase 6 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 728656,1580863,2293881,2316089,2316092 19913121,20628086,8670865,17322878,19328558,19106095,19091959,18848526,18771677,18694935,18644985,18632752,18434601,18280112,17569113,17131384,16491131,16344560,16189514,15832194,15824892,15632084,15489334,15269220,14702039,14690430,12840032,12759238,12477932,11998972,10048930,9858808,9535927,9373149,9205128,8626780,8125298,11359773,15766528,10846176,19608870,20097731,9788880,15276183,20554528,20638106,20806045,20665674,20800603 728656,2293881,2316089,2316092 1848 NM_022652,NM_001946,AB013601,AC024909,CH471054,AB013382,AB013602,AB189400,AB451265,AB451393,AK091753,AK222882,AU135449,BC003143,BC003562,BC005047,BC037236,BT006895,CR593797,X93920,HI179184 NP_073143,NP_001937,BAA31968,EAW97422,EAW97423,EAW97424,BAA34369,BAA31969,BAD38886,BAG70079,BAG70207,BAD96602,AAH03143,AAH03562,AAH05047,AAH37236,AAP35541,CAA63813,Q16828,Q53GP9,Q689E8,ABM83416,ABM86627,CBX53900 Hs.298654,Hs.718640 MKP3|PYST1 MAP kinase phosphatase 3|dual specificity protein phosphatase 6|dual specificity protein phosphatase PYST1|mitogen-activated protein kinase phosphatase 3|serine/threonine specific protein phosphatase protein-coding 1350752 DUSP7 dual specificity phosphatase 7 728656,1580863 9788880,9205128,8626780,12477932,12907755,8670865,17322878,15489334,15146197,15081539,14674243,14603440,14576828,19228121,15276183 728656 1849 NM_001947,AC115284,CH471055,AF508727,AF508728,AL110157,BC019107,BC104880,BC104882,BC128064,CN429806,DN999200,X93921 NP_001938,EAW65184,AAM77606,AAH19107,AAI04881,AAI04883,CAA63814,Q16829 Hs.591664 DKFZp586F2224|MKPX|PYST2 OTTHUMP00000212488|dual specificity protein phosphatase 7|dual specificity protein phosphatase PYST2|dual-specificity phosphatase-7 protein-coding 1315032 DUSP8 dual specificity phosphatase 8 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq] 1580863,2293881 9192849,8889548,7561881,13129832,12477932,15899389 2293881 1850 NM_004420,AP006285,CH471158,AK124467,AK124948,BC038231,BC045110,BU740880,U27193 NP_004411,EAX02451,EAX02452,BAC85857,BAC86004,AAH38231,AAH45110,AAA83151,Q13202 Hs.41688 C11orf81|FLJ42476|FLJ42958|HB5|HVH-5|HVH8 H1 phosphatase, vaccinia virus homolog|OTTHUMP00000164487|dual specificity protein phosphatase 8|dual specificity protein phosphatase hVH-5|serine/threonine specific protein phosphatase protein-coding 1350641 DUSP8P dual specificity phosphatase 8 pseudogene 9192849 1851 XM_291738 1345424 DUSP9 dual specificity phosphatase 9 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases, is expressed only in placenta, kidney, and fetal liver, and is localized to the cytoplasm and nucleus. [provided by RefSeq] 1302383,1580863 9030581,18029348,18006813,15772651,12477932,11988087,20581827 1302383 1852 HC250955,HC311144,NM_001395,CH471172,AI253132,AK314250,BC034936,BC042166,BC060837,CR622905,U87167,Y08302 CBJ05775,CBJ21227,NP_001386,EAW72847,EAW72848,EAW72849,BAG36916,AAH34936,AAH42166,AAH60837,AAB47559,CAA69610,P78512,Q6P9C2,Q8N4A4,Q99956 Hs.144879 MKP-4|MKP4 OTTHUMP00000044049|dual specificity protein phosphatase 9|map kinase phosphatase 4|mitogen-activated protein kinase phosphatase 4|serine/threonine specific protein phosphatase protein-coding 1351513 DUSPP dual specificity phosphatase pseudogene 7806236,7806236 1853,441554 AL603982,NG_022173 HVH4 pseudo 1349758 DUT deoxyuridine triphosphatase This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq] 2300191,1580863 8631816,1325640,19968781,19403629,19302784,19015155,18464913,17880943,17848562,17081983,16325515,16189514,15629463,15489334,12799180,12477932,12374095,12369926,12096336,11118321,10910061,9228092,9070952,8910358,8805593,8631817,8389461,1091006,15604093,19060904,19879316,20877624 2300191 1854 NM_001025248,NM_001025249,NM_001948,AC023355,AF018429,AF018432,AY935242,CH471082,U90224,AB049113,AK000629,AK291515,AK298464,AK312122,BC033645,BC070339,BC110377,BF697257,BG505144,BG532018,BI257870,CR541720,CR541781,CR593782,CR599160,CR607847,CR613093,L11877,M89913,U31930,U62891,U90223 NP_001020419,NP_001020420,NP_001939,AAB71393,AAB71394,AAX14045,EAW77349,EAW77350,EAW77351,EAW77352,AAB93866,AAB93867,BAB13724,BAF84204,BAG60677,BAG35058,AAH33645,AAH70339,AAI10378,CAG46521,CAG46580,AAA36801,AAA58444,AAC50418,AAC51123,AAB94642,P33316,ABM82117,ABM85301 Hs.527980 FLJ20622|dUTPase dUTP nucleotidohydrolase|dUTP pyrophosphatase|deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial protein-coding 1348612 DUX1 double homeobox, 1 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM] 1580863 9736770,15709750,11245978 26584 NM_012146,AJ001636,AL732375,AJ001481 NP_036278,CAA04776,O43812,AAI56918 Hs.274469 double homeobox protein 1|double homeobox, 1 protein-coding 1350894 DUX2 double homeobox, 2 1580863 11245978,9736770 26583 AF068744,AC126281,NM_012147,NR_033487 AAC31481,O75505,NP_036279 double homeobox protein 2|double homeobox, 2|putative double homeobox protein 2 protein-coding 1348066 DUX3 double homeobox, 3 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX3, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM] 11245978 26582 NM_012148,AF133130 NP_036280,AAD33597,AAL02242,Q96PT4,AAI52799 double homeobox, 3|putative double homeobox protein 3 protein-coding 1344048 DUX4 double homeobox, 4 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that contains two homeoboxes; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed and the encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq] 1580863 19404400,19359275,18833193,17984056,17668377,17588759,15709750,11245978,10433963,7739628,19756142,19829708,19837261,19837262,20724583 22947 NG_027707,NM_033178,AC126281,AF117653,AY044051,D38024,FJ439133 NP_149418,AAD54067,AAD54068,AAK91509,BAA07227,ACN62209,ACN62210,ACP30487,ACP30488,ACP30489,ACP30490,Q14333,Q9UBX2,AAI60122 Hs.553518 DUX10 OTTHUMP00000220042|double homeobox protein 10|double homeobox protein 4|double homeobox protein 4/10|double homeobox protein DUX10|double homeobox, 4 protein-coding 1606352 DUX4C double homeobox 4c 10433963,7987304,7903581,7490072 554045 NM_001023569,NM_001099853,AF146191,AY500824,L32607,U18977 NP_001018863,NP_001093323,AAS15569,AAA83546,AAA87408,Q13060,Q14546,Q6RFH8 protein-coding 4108613 DUX4L10 double homeobox 4 like 10 440013 AL732375,NG_012775 DUX10 pseudo 4109086 DUX4L11 double homeobox 4 like 11 399839 AL732375,NG_012779 pseudo 4108608 DUX4L12 double homeobox 4 like 12 440014 AL732375,NG_012776 pseudo 4109138 DUX4L13 double homeobox 4 like 13 100289581 AL732375,NG_012773 pseudo 4109168 DUX4L14 double homeobox 4 like 14 728022 AL732375,NG_012778 pseudo 4108603 DUX4L15 double homeobox 4 like 15 19359275 440017 AL732375,NG_012777 pseudo 4109167 DUX4L16 double homeobox 4 like 16 15653831 728169 AC134882,NG_021937 DUXY1 pseudo 4108602 DUX4L17 double homeobox 4 like 17 15653831 643001 ABBA01032187,ABBA01032188,AC134882 DUXY3 pseudo 4109008 DUX4L18 double homeobox 4 like 18 15653831 100132421 AC134882 DUXY2 pseudo 4108601 DUX4L19 double homeobox 4 like 19 15653831 643034 AC134882 DUXY4 pseudo 4109143 DUX4L2 double homeobox 4 like 2 10433963,17588759,17668377,7739628 728410 AC126281,NM_001127386 NP_001120858 Hs.714689 OTTHUMP00000220041|double homeobox, 4-like protein-coding 4108596 DUX4L3 double homeobox 4 like 3 10433963,17668377,7739628 653548 AC126281,NM_001164467 NP_001157939 Hs.723089 OTTHUMP00000220044|double homeobox, 4-like protein-coding 4109174 DUX4L4 double homeobox 4 like 4 10433963,17588759,17668377,7739628 441056 AC126281,NM_001177376 NP_001170847,Q14547 Hs.725918 OTTHUMP00000220043|double homeobox, 4-like protein-coding 4108582 DUX4L5 double homeobox 4 like 5 10433963,17588759,17668377,7739628 653545 AC126281,NM_001127389 NP_001120861 Hs.714687 OTTHUMP00000220040|double homeobox, 4-like protein-coding 4108573 DUX4L6 double homeobox 4 like 6 10433963,17588759,17668377,7739628 653544 AC126281,NM_001127388 NP_001120860 Hs.723089 OTTHUMP00000220038|double homeobox, 4-like protein-coding 4108591 DUX4L7 double homeobox 4 like 7 10433963,17668377,7739628 653543 AC126281,NM_001127387 NP_001120859 Hs.714688 OTTHUMP00000220039|double homeobox, 4-like protein-coding 4108840 DUX4L8 double homeobox 4 like 8 100287020 XR_078305 pseudo 1353640 DUX5 double homeobox, 5 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX5, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM] 15709750,11245978,9736770 26581 NM_012149,AF133131 NP_036281,AAD33598,AAL02243,O43812,Q96PT3,AAI52798 DUX1 double homeobox protein 1|double homeobox protein 5|double homeobox, 5 protein-coding 1604882 DUXA double homeobox A Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq] 17005330 503835 NM_001012729,AC025588 NP_001012747,A6NLW8 Hs.585857 double homeobox protein A protein-coding 1605468 DUXAP1 double homeobox A pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 503630 NG_004841,AC010087 pseudo 1605460 DUXAP10 double homeobox A pseudogene 10 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 17005330,14702039 503639 AK022914,AL929602,AK056135,NG_004838,AL589743 Hs.536395 FLJ12852|FLJ31573 pseudo 1605467 DUXAP2 double homeobox A pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 503631 NG_004842,AC011028,AP001208 pseudo 1602610 DUXAP3 double homeobox A pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 503632 NG_007339,AL022344 pseudo 1605466 DUXAP4 double homeobox A pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 503633 NG_004843,AL390758 pseudo 1605465 DUXAP5 double homeobox A pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 503634 NG_004844,AP003396 pseudo 1605464 DUXAP6 double homeobox A pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 503635 NG_004845,AC116903 pseudo 1605463 DUXAP7 double homeobox A pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 503636 NG_004846,AL121900 pseudo 1605462 DUXAP8 double homeobox A pseudogene 8 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 17005330 503637 NG_004840,AP000525,AP000526 pseudo 1605461 DUXAP9 double homeobox A pseudogene 9 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq] 17005330 503638 NG_004839,AL589182 pseudo 2306720 DUXB double homeobox B 17668377,17005330 100033411 AC025287 double homeobox B protein-coding 733042 DVL1 dishevelled, dsh homolog 1 (Drosophila) DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq] 1580898,1580899,2301993,734906,1581696,1581694 10330181,11113207,8644734,8817329,19453261,18760999,18692936,18632848,18347071,18162551,18093802,16621789,16457155,15852005,15456783,15342556,15262978,14750955,14702039,14684739,12941796,12883684,12824876,12650946,12556519,12533515,12490194,12477932,11818547,11803455,11779461,11742073,11487578,10806215,10644691,10581192,10428961,10330403,9344861,9192851,8856345,8288125,10332026,16169070,12805222,20388731,14747478,20846493,17593335,9482734,20634891,19465938,19561074,19956716,20177058,20412773,15454084,19388021 1580898,1580899,734906,1581696,1581694 1855 NG_008048,AL139287,CH471183,AB209210,AF006011,AK093189,AK095867,AK293286,AK300063,BC017225,BC025292,BC050454,BC111419,BP305846,CR616573,U46461,NM_004421 Q8NA39,NP_004412,CAI23185,CAI23187,EAW56224,EAW56225,EAW56226,EAW56227,BAD92447,AAB65242,BAC04089,BAG53150,BAH11484,BAH13201,AAH17225,AAH50454,AAC50682,O14640,P54792,Q59G99,Q5TA34,Q6PJD6,Q86TH3 Hs.728144 DVL|DVL1L1|MGC54245 DSH homolog 1|DSH homolog 1-like|dishevelled 1 (homologous to Drosophila dsh)|dishevelled-1|dishevelled-1-like|segment polarity protein dishevelled homolog DVL-1|segment polarity protein dishevelled homolog DVL-1-like protein-coding 1348473 DVL1L1 dishevelled, dsh homolog 1 (Drosophila)-like 1 1580898,1580863 20639201,16604061,10591208,9192851,8817329,8644734,12384700,19643732 1580898 8215 NG_009878,AC000094,U46462 DSH|DVL|DVL-22|DVL1|DVL4 pseudo 1320219 DVL2 dishevelled, dsh homolog 2 (Drosophila) This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq] 2293492,2301993,1580863 20639871,16189514,9192851,8887313,19453261,18838381,18692936,17593335,17529994,16446366,15489334,15456783,15262978,12958364,12533515,12477932,11779461,11742073,10829020,10806215,10644691,8817329,8662242,12805222,19137009,20628365,20823832,18093802,16713569,19913121,20628086,19249679,19379695,19465938,20137080,20219685,18787224,19388021 2293492 1856 NM_004422,AC120057,CH471108,AF006012,AK026019,AK297099,AK297285,AK304229,AK309771,AK312829,BC014844,BG716400,BT009822,CB994349,CR592647,CR623783 NP_004413,EAW90244,EAW90245,AAB65243,BAG59612,BAG59756,BAG65098,AAH14844,AAP88824,O14641 Hs.118640 DSH homolog 2|dishevelled 2 (homologous to Drosophila dsh)|dishevelled-2|segment polarity protein dishevelled homolog DVL-2 protein-coding 1318833 DVL3 dishevelled, dsh homolog 3 (Drosophila) This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq] 2301993,1580863 10644691,8817329,18692936,18093802,17030191,16189514,15677333,15489334,14702039,12477932,10806215,10330181,9344861,9192851,9039502,12805222,15456783,19137009,17593335,10535959,11113207,11274398,11433294,16169070,19465938,20137080,16547521,19388021 1857 NM_004423,AC131235,CH471052,AF006013,AK093469,AK304686,AL110278,BC018289,BC032459,D86963,U48252,U49262,U75651 NP_004414,EAW78293,EAW78294,EAW78295,EAW78296,AAB65244,BAG65457,CAB53713,AAH18289,AAH32459,BAA13199,AAC72246,AAB47447,AAB84228,Q13518,Q8WVA8,Q92997,Q9UG07,ABM82542,ABM85734 Hs.388116 KIAA0208 DSH homolog 3|OTTHUMP00000210778|dishevelled 3 (homologous to Drosophila dsh)|dishevelled-3|segment polarity protein dishevelled homolog DVL-3 protein-coding 2311268 DVWA dual von Willebrand factor A domains This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq] 19507504,19181678,18622395,18400749,12477932,18276594,19054821,19486942,20238217,20848793,20939878 344875 NR_027927,AC087590,AC090954,AB299979,FN394065 BAF94136,CAY86115 Hs.722756 COL6A4|COL6A4P|COL6A4P1|DIVA|DVWA|VWA6 pseudo 1352825 DWS dandy-walker syndrome 1858 1352824 DYDC1 DPY30 domain containing 1 16189514,15489334,15164054,14702039,12477932,16385451 143241 NM_138812,AL359195,CH471142,AK125908,AK292542,BC019250,HC007076,HC044627 NP_620167,CAI13699,CAI13701,CAI13702,EAW80394,BAC86339,BAF85231,AAH19250,Q8WWB3,ACE87332,ACE86650,CBH19343,CBH30643 Hs.407751 DPY30D1|FLJ43920|bA36D19.5 BC019250 protein|DPY30 domain-containing protein 1|OTTHUMP00000019963|OTTHUMP00000019964 protein-coding 1352468 DYDC2 DPY30 domain containing 2 16189514,15489334,15164054,14702039,12477932,16385451,19447967 84332 NM_032372,AL359195,CH471142,AK093378,BC007374,BC018606 NP_115748,CAI13698,CAI13703,CAI13704,EAW80391,EAW80392,EAW80393,BAC04148,AAH07374,Q96IM9 Hs.512782 MGC16186|bA36D19.6 DPY30 domain-containing protein 2|OTTHUMP00000019966|OTTHUMP00000019969|OTTHUMP00000019970 protein-coding 1350887 DYM dymeclin This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq] 1580863,1598787 18996921,18391952,17456239,15489334,14702039,12554689,12491225,12477932,12362026,12161821,9373149,8125298,20546612,20555340,20379614 1598787 54808 NM_017653,NG_009239,AC016866,AC044840,AC090329,AC100778,CH471096,AK000078,AK074611,AK091256,AK225205,AK291303,AK296579,AK315091,AL390156,AY364250,BC001252,BC064394,BK000950,BQ021755,DQ925676 NP_060123,EAW62932,EAW62933,EAW62934,EAW62935,EAW62936,EAW62937,BAA90931,BAC11088,BAG52319,BAF83992,BAG59199,BAG37556,CAB99092,AAQ76809,AAH01252,AAH64394,DAA00396,ABL59903,Q7RTS9,Q9NXS9 Hs.162996 DMC|FLJ20071|FLJ90130|SMC dyggve-Melchior-Clausen syndrome protein|dymeclin protein-coding 1351274 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq] 1298890,1580863 17043677,17353931,8227145,18029348,8666668,19020519,17676955,17567985,17081983,16546759,16260502,15635413,15489334,15324660,15231748,14760703,14702039,14632200,12477932,11163259,11112706,10771482,9373155,9205841,8889548,8812413,8001984,11101529,11483508,10189366,20029029,11076968,12221128,12852856,16462731,19448619,7790358,11163260,11889140,14600259,20677014 1298890 1778 NM_001376,NG_008777,AL118558,AY682080,CH471061,AB002323,AB290157,AF234785,AI241115,AI302138,AK023747,AK095415,AK299878,AL833600,BC021297,BC064521,BM976324,BP871545,BX648670,CR590556,DB508175,L23958,U53530,U61737 NP_001367,AAT74625,EAW81759,EAW81760,EAW81761,EAW81762,EAW81763,EAW81764,BAA20783,BAG06711,AAF35913,BAG61728,AAH21297,AAH64521,AAA16065,AAB09727,AAC50701,Q14204,Q6P2H7,Q92862,Q9NRC3 Hs.649497 DHC1|DHC1a|DKFZp686P2245|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|KIAA0325|p22 cytoplasmic dynein 1 heavy chain 1|cytoplasmic dynein heavy chain 1|dynein heavy chain, cytosolic|dynein, cytoplasmic, heavy polypeptide 1|dynein, cytoplasmic-like protein-coding 734329 DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 1580863 14985359,10049579,16344560,16260502,16189514,15342556,15121898,14702039,12853948,12690205,12477932,12006665,11500918,11148209,8943288,12475239,15992542,17139249,19229290,20048338,20201926 1780 NM_001135556,NM_004411,NM_001135557,AC002452,AC002540,AC022261,AC091779,CH236949,CH471091,AF063228,AF123074,AK091339,AK297427,AK309419,AK313148,BC012504,BC022540,BC032945,BC037854,BC053542,BP307571,DA491512,DB343806 NP_001129028,NP_004402,NP_001129029,AAB67047,AAB70113,AAS01994,AAS07455,EAL24126,EAW76751,EAW76752,EAW76753,EAW76754,EAW76755,AAC33443,AAD26852,BAC03639,BAG59855,BAG35966,AAH22540,AAH32945,AAH37854,AAH53542,O14576,Q75LS9,Q75MI9,Q7Z6M0,Q8IY52,Q8N542,Q8TBF7 Hs.440364 DNCI1|DNCIC1 DH IC-1|OTTHUMP00000204856|cytoplasmic dynein 1 intermediate chain 1|cytoplasmic dynein intermediate chain 1|dynein intermediate chain 1, cytosolic|dynein, cytoplasmic, intermediate chain 1|dynein, cytoplasmic, intermediate polypeptide 1 protein-coding 732025 DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 1580863 8522607,17353931,16381901,16260502,16189514,15489336,15489334,15302935,15252450,14702039,12477932,11751894,11230166,11076863,10049579,11076968,12221128,12852856,16169070,16462731,7790358,9373149,8125298 1781 NM_001378,AC064826,AC068039,CH471058,AB209014,AF134477,AF250307,AK024742,AK026574,AK055491,AK075323,AK096579,AK225759,AK298561,AK301866,AK308008,AK316119,AL137519,AL832832,AY037160,BC015038,BC091498,BC109375,BT007130,BX537412,CR592889,DQ786313,DQ786324,U39575 NP_001369,AAX93177,AAY24133,EAX11199,EAX11200,EAX11201,EAX11202,EAX11203,EAX11204,EAX11205,EAX11206,EAX11207,EAX11208,EAX11209,BAD92251,AAP97254,AAK37426,BAB15502,BAB70932,BAG60755,BAG63305,BAH14490,CAB70785,AAK67638,AAH15038,AAH91498,AAI09376,AAP35794,CAD97654,AAA89166,Q13409,Q53SA6,Q59GU5,Q9H5W7,CAL38635 Hs.546250 DNCI2|FLJ21089|FLJ90842|IC2|MGC104199|MGC111094|MGC9324 DH IC-2|OTTHUMP00000205410|OTTHUMP00000205452|cytoplasmic dynein 1 intermediate chain 2|cytoplasmic dynein intermediate chain 2|dynein intermediate chain 2, cytosolic|dynein, cytoplasmic, intermediate polypeptide 2 protein-coding 1606006 DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1 18029348,19229290,17081983,16565220,16260502,15345747,15302935,14702039,11243854,10893222,9373149,8125298,12477932,20026645,16344560 51143 NM_016141,AC104306,CH471055,AF078849,AK001081,AK074348,AK222573,AK222653,AK293253,BC131620,BX649189,CR595277,CR619992,CR623843,BU521223,DA284201 NP_057225,EAW64431,EAW64432,EAW64433,AAD44481,BAG50854,BAD96293,BAD96373,BAG56785,AAI31621,CAE46207,Q6MZE7,Q9Y6G9 Hs.529495 DNCLI1|FLJ10219|LIC1 DLC-A|cytoplasmic dynein 1 light intermediate chain 1|dynein light chain A|dynein light chain-A|dynein light intermediate chain 1, cytosolic|dynein, cytoplasmic, light intermediate polypeptide 1 protein-coding 1344148 DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM] 1580863 7738094,17081983,16964243,16260502,15489334,15302935,14702039,12477932,12417987,16169070,20214888 1783 NM_006141,AC018557,AC044802,CH471092,AF035812,AK024863,AK095237,AK291766,AK295049,AK303031,AK304233,AL708642,BC010928,BC022934,BC025959,BC036633,BC069056,BM805417,BX648863 NP_006132,EAW83039,EAW83040,AAB88513,BAF84455,BAG58099,BAG64156,BAG65102,AAH25959,CAH56157,O43237,Q63HJ8 Hs.369068 DNCLI2|LIC2 LIC-2|LIC53/55|cytoplasmic dynein 1 light intermediate chain 2|dynein light intermediate chain 2, cytosolic|dynein, cytoplasmic, light intermediate polypeptide 2 protein-coding 1606227 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 19361615,16320026,14702039,12477932,12056414,9763680,9373155,9325061,8832411,8666668,8186465,12432068,11907264,16440056,19442771,19615732,20379614,21118971 79659 U53531,Z83800,AP000817,AP001486,AP002829,AP002961,AP003382,AP003461,AB082528,AB231765,AB231766,AB290167,AF288405,AK021818,AK095579,AK125524,AK131453,BC037496,BC038344,BX538093,BX649161,U20552,NM_001080463,NG_016423,NM_001377 AAB50020,AAB09728,CAB06054,Q49AI6,Q8NCM8,NP_001073932,BAC02706,BAE46899,BAE17138,BAG06721,BAB13905,BAC04578,BAC86194,BAD18598,AAH37496,CAD98012,NP_001368 Hs.503721 ATD3|DHC1b|DHC2|DNCH2|DYH1B|FLJ11756|hdhc11 cytoplasmic dynein 2 heavy chain 1|dynein cytoplasmic heavy chain 2|dynein heavy chain 11|dynein heavy chain isotype 1B|dynein heavy chain, isotype 1B|dynein, cytoplasmic, heavy polypeptide 2 protein-coding 1602120 DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1 12477932,12432068,12401177,11907264,10810093,9373149,8125298,17207965 51626 BG716986,CB528979,NM_001193464,NM_015522,AC011242,CH471053,AF151818,AK074206,AK223432,AK301489,AL050006,AY083346,BC006969,BC016324,BC035126,BC040558,BC058823,NM_016008,BX493698,CR600166,CR622142 NP_001180393,NP_057092,NP_056337,AAY14702,EAX00289,EAX00290,EAX00291,AAD34055,BAD97152,BAG63001,CAB43233,AAL99216,AAH06969,AAH16324,AAH40558,AAH58823,Q8TCX1,ADQ32119 Hs.371597 CGI-60|D2LIC|DKFZp564A033|LIC3 OTTHUMP00000201652|OTTHUMP00000201653|cytoplasmic dynein 2 light intermediate chain 1|dynein 2 light intermediate chain protein-coding 731010 DYNLL1 dynein, light chain, LC8-type 1 Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 633683 8628263,14764673,18579519,12591950,19032974,18767155,18692162,18084006,17353931,17169380,17012239,16781079,16684779,16341674,16260502,16169070,16098226,15891768,15611139,15560738,15504720,15193260,14760703,14607844,14607843,14561217,12766061,12761050,12477932,12097491,11978406,11243854,11178896,11157096,11148209,11069771,11076968,12221128,12852856,16462731,16946704,18420585,19557173,19615732,20379614,20412299,7790358,10844022,10683380,10426949,10198631,9837926,9808772,9808041,9372968,8864115,7829101,18782753,12475239,11122378,11024152,15117959,20562859,20801876,20444980,20889982 633683 8655 NM_001037494,NM_001037495,NM_003746,AC063943,AL021546,CH471054,AK311790,BC100289,BC104244,BC104245,BG474448,BG705617,BI491360,BM817665,BU598428,CB992195,CD678447,CR407672,CR542128,CR590506,CR607733,CR609172,CR619359,U32944 NP_001032583,NP_001032584,NP_003737,EAW98195,EAW98196,EAW98197,BAG34733,AAI00290,AAI04245,AAI04246,CAG28600,CAG46925,AAB04149,P63167,Q6FGH9,ACT64411,ACT64412 Hs.5120 DLC1|DLC8|DNCL1|DNCLC1|LC8|LC8a|MGC126137|MGC126138|PIN|hdlc1 8 kDa dynein light chain|cytoplasmic dynein light polypeptide|dynein light chain 1, cytoplasmic|dynein, cytoplasmic, light polypeptide 1|protein inhibitor of neuronal nitric oxide synthase protein-coding 730979 DYNLL2 dynein, light chain, LC8-type 2 12591950,16344560,16260502,16189514,20889982,15489334,15146197,14561217,12477932,12097491,11546872,10844022,11122378,17353931,19615732 140735 NM_080677,AC015813,CH471109,CS185623,AF086304,AF112997,AK312125,BC010744,BF528423,CN280282,DA140058,DB022843 NP_542408,EAW94483,EAW94484,CAJ42804,AAP97230,BAG35061,AAH10744,Q96FJ2 Hs.720595 DNCL1B|Dlc2|MGC17810|RSPH22 8 kDa dynein light chain b|DLC8b|dynein light chain 2|dynein light chain 2, cytoplasmic|radial spoke 22 homolog protein-coding 734301 DYNLRB1 dynein, light chain, roadblock-type 1 This gene is a member of the roadblock dynein light chain family and encodes a cytoplasmic protein that is capable of binding intermediate chain proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. [provided by RefSeq] 11750132,12077152,18044744,17556076,16970917,16950395,16778097,16260502,16189514,15489334,15231747,12665801,12629046,12477932,11780052,11042152,14733918,10198631,19571232,19711352 83658 NM_014183,AL109923,AL136173,CH471077,AF132750,AF161511,AF165516,AF178431,AK026864,AK294214,AY026513,BC002481,BC007223,BG110161,BU163605,CR596463,CR600460,CR624938,CR626029 NP_054902,CAI21456,CAI21457,CAI23308,CAI23309,EAW76267,AAL75951,AAF29126,AAF86646,AAK95342,BAG57523,AAK18712,AAH02481,Q9NP97 Hs.593920 BITH|BLP|DNCL2A|DNLC2A|ROBLD1 ROBL/LC7-like 1|Roadblock-1|bithoraxoid-like protein|cytoplasmic dynein light chain 2A|dynein light chain 2A, cytoplasmic|dynein light chain roadblock-type 1|dynein, cytoplasmic, light polypeptide 2A|dynein-associated protein HKM23|dynein-associated protein Km23|dynein-associated protein rkm23|roadblock domain containing 1|roadblock domain-containing protein 1 protein-coding 1315823 DYNLRB2 dynein, light chain, roadblock-type 2 1580863 11750132,12077152,16260502,12665801,12477932,19711352,19844255,20379614 83657 NM_130897,AC108097,CH471114,AF125108,BC035232,BC054892 NP_570967,EAW95568,AAL75945,AAH54892,Q7Z4M1,Q8TF09 Hs.98849 DNCL2B|DNLC2B|MGC62033|ROBLD2 bithoraxoid-like protein|dynein light chain 2B, cytoplasmic|dynein light chain roadblock-type 2|dynein, cytoplasmic, light polypeptide 2B|roadblock domain containing 2|roadblock domain-containing protein 2|roadblock/LC7-like protein-coding 732244 DYNLT1 dynein, light chain, Tctex-type 1 Cytoplasmic dynein is the major motor protein complex responsible for minus-end, microtubule-based motile processes. Each dynein complex consists of 2 heavy chains that have ATPase and motor activities, plus a group of accessory polypeptides. TCTEX1 is a dynein light chain involved in cargo binding (Chuang et al., 2005 [PubMed 15992542]).[supplied by OMIM] 15503857,18647839,16956385,16260502,15992542,15489334,15194795,14583445,12477932,12049630,12009301,11751937,10644691,9804756,8943288,8646886,5503857,12475239,15117959,20668116,17965411,8889548 6993 NM_006519,AL589931,AL591025,CH471051,AK026669,AK315601,BC029412,BC105588,CR456931,CR604424,D50663,EU862237,U56255,BU675683 NP_006510,CAI95303,CAH70176,EAW47655,EAW47656,EAW47657,EAW47658,EAW47659,BAG37971,AAH29412,AAI05589,CAG33212,BAA09317,ACF74976,AAB03318,P63172,Q5VTU4,ABM83532,ABM83533,ABM86772,ABM86773,CAH70181 Hs.445999 CW-1|MGC111571|TCTEL1|tctex-1 T-complex testis-specific protein 1 homolog|dynein light chain Tctex-type 1|t-complex testis expressed 1|t-complex-associated-testis-expressed 1-like 1 protein-coding 1350586 DYNLT3 dynein, light chain, Tctex-type 3 1580863 15489334,15117959,12477932,12009301,11751937,9692886,8004092,12475239,20668116,18029348,17289665,17676955,16344560,16189514,16079286,11425878,11746667,9790665 6990 FB775514,NM_006520,AL121578,CH471141,AK311851,BC000968,CR450320,CR542213,CR591625,CR615178,CR622725,DA342302,DB492712,U02556,NG_016797 CAV30714,NP_006511,EAW59452,BAG34793,AAH00968,CAG29316,CAG47009,AAA57444,P51808,Q6ICS3,ACT64502,ACT64503 Hs.446392 RP3|TCTE1L|TCTEX1L dynein light chain Tctex-type 3|protein 91/23|t-complex-associated-testis-expressed 1-like protein-coding 1603169 DYNLT3P1 dynein, light chain, Tctex-type 3 pseudogene 1 170554 NG_001059,AL031664 TCTE1P|dJ531H16.2 pseudo 4109875 DYNLT3P2 dynein, light chain, Tctex-type 3 pseudogene 2 100381215 AC017079,NG_016784 pseudo 737237 DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq] 625468,1580863,1300048 9748265,8769099,19383720,19242551,19081073,19016842,18771760,18696092,18658135,18509201,18468476,18405873,18366763,18231969,18005339,17906291,17536841,17294446,17229891,17192257,17145134,17135279,16919501,16733250,16512921,16242644,15917294,15694837,15592455,15369779,15324660,15126119,15068246,15068245,14623875,14593110,14500717,12964950,12799418,12576186,12477932,12138125,11311120,10830953,10329007,9784410,9503019,9503011,9284911,9048932,9037601,8975710,8872470,8274451,11877424,15778465,19801542,19995442,20167603,20237271,20456003,20696760,18678649,20694148 625468 1859 NM_101395,NM_130436,NM_130438,NM_001396,NG_009366,AP001413,AP001421,AP001428,AP001437,CH471079,AB015282,AB015283,AB015284,AF108830,AJ001870,AJ001871,AK301752,BC030515,BC045802,BC065184,D85759,D86550,U52373,U58496,Z25423 NP_567824,NP_569120,NP_569122,NP_001387,EAX09702,EAX09703,EAX09704,EAX09705,EAX09706,EAX09707,EAX09708,BAA33975,BAA33976,BAA33977,AAD31169,CAA05059,CAA05060,BAG63214,BAA12866,BAA13110,AAB18639,AAC50939,CAA80910,O60770,O94789,Q13627,Q15446,Q76N25,AAI56310,AAI72505 Hs.368240 DYRK|DYRK1|HP86|MNB|MNBH MNB/DYRK protein kinase|OTTHUMP00000109090|dual specificity YAK1-related kinase|dual specificity tyrosine-phosphorylation-regulated kinase 1A|hMNB|mnb protein kinase homolog hp86|protein kinase minibrain homolog|serine/threonine kinase MNB|serine/threonine-specific protein kinase protein-coding 1353109 DYRK1AIP1 DYRK1A interacting protein 1 93980 1350419 DYRK1AIP2 DYRK1A interacting protein 2 93981 1347661 DYRK1AIP3 DYRK1A interacting protein 3 93982 1316288 DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B DYRK1B is a member of the DYRK family of protein kinases. DYRK1B contains a bipartite nuclear localization signal and is found mainly in muscle and testis. The protein is proposed to be involved in the regulation of nuclear functions. Three isoforms of DYRK1B have been identified differing in the presence of two alternatively spliced exons within the catalytic domain. [provided by RefSeq] 1580863 18029348,11980910,14593110,9918863,19351855,18818203,17046823,16845176,16618736,15851482,15546868,15489334,15144186,15057824,14500717,12477932,12384504,20936779,19542220,20042639,20512148,10910078 9149 NM_004714,NM_006483,NM_006484,AC005393,CH471126,AF205861,AK074971,AK302127,BC009688,BC018751,BC025291,CR611407,CR620266,Y17999 NP_004705,NP_006474,NP_006475,AAC28914,EAW56916,EAW56917,EAW56918,EAW56919,EAW56920,EAW56921,EAW56922,EAW56923,EAW56924,AAF15893,BAG52042,BAG63504,AAH18751,AAH25291,CAA76989,CAA76990,CAA76991,Q9Y463,ABM83462,ABM86673 Hs.130988 MIRK dual specificity tyrosine-phosphorylation-regulated kinase 1B|minibrain-related kinase|mirk protein kinase protein-coding 1323814 DYRK2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq] 1580863 11311121,9748265,17349958,19287380,16344560,16189514,15489334,15146197,12588975,12477932,14593110,18029348,19596956,19818968,19965871 8445 NM_006482,NM_003583,AC078777,CH471054,AK024870,AK025018,AK313937,BC005809,BC006375,CN303286,CR612226,DA768075,DB461362,Y09216,Y13493 NP_006473,NP_003574,EAW97176,EAW97177,BAG36656,AAH05809,AAH06375,CAA70418,CAA73885,Q92630 Hs.173135 FLJ21217|FLJ21365 dual specificity tyrosine-phosphorylation-regulated kinase 2 protein-coding 1322106 DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 10779429,18854306,16344560,15607427,15592455,12477932,12356771,9845759,9748265,18482256,20167603 8444 NM_001004023,NM_003582,AL591846,CH471100,AF186773,AF186774,AF327561,AK291189,AK308082,AK313245,AU126055,AY590695,BC015501,BC037269,CR609403,Y12735 NP_001004023,NP_003573,CAI13539,CAI13540,CAI13541,EAW93533,EAW93534,EAW93535,AAG17028,AAG17029,AAK16443,BAF83878,BAG36056,AAT06103,AAH15501,AAH37269,CAA73266,O43781,Q4G0U0,Q5SY34 Hs.164267 DYRK5|RED|REDK|hYAK3-2 OTTHUMP00000034530|dual specificity tyrosine-phosphorylation-regulated kinase 3|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5|protein kinase Dyrk3|regulatory erythroid kinase protein-coding 1351667 DYRK4 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 Dual-specificity kinases, such as DYRK4, play key roles in cell proliferation, survival, and development (Zhang et al., 2005 [PubMed 15607427]).[supplied by OMIM] 1580863 17292540,15607427,15489334,12477932,11062477,9748265,18029348 8798 GU139739,GU139740,GU139741,GU139742,GU139743,GU139744,NM_003845,AC005832,CH471116,AF263541,AK292322,AK298979,AK303744,AK308260,AK308702,BC031244,CR609016,CR615549,Y09305 ADC33153,ADC33154,ADC33155,ADC33156,ADC33157,NP_003836,EAW88841,EAW88842,AAF91393,BAF85011,BAG61073,BAG64716,AAH31244,CAA70488,Q9NR20,ABM82446,ABM85636 Hs.439530 dual specificity tyrosine-phosphorylation-regulated kinase 4 protein-coding 1322255 DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1598789,1580863 9731527,8012357,16862423,20535123,11959863,12477932,19228595,19253956,19493611,19545895,19594366,19834057,19929428,20082313,20373350,20379614,10196375,10496277,9731526,19380584,19326120,19309282,19286669,19221801,19084402,18853459,18832576,18641458,18495154,18464913,18396043,18306167,18294055,18276788,17897828,17868276,17828519,17825554,17698709,17554076,17363620,17287450,16996541,16934466,16896923,16797397,16608842,16606933,16344560,16100712,16087766,16010686,15835269,15827562,15535137,15477515,15469449,15318348,15221058,14749532,14678801,14560310,14512171,14506716,14506282,12836053,12664320,11532985,11468312,11198284,10196377,20558759,20544924,20574037,20413686,20595382,20724702 1598789 8291 HQ222984,NM_001130981,NM_001130980,NM_001130978,NM_003494,NM_001130977,NM_001130976,NM_001130982,NM_001130987,NM_001130985,NM_001130983,NM_001130455,NM_001130984,NM_001130986,NG_008694,AC010147,AC104084,AJ007973,AJ566204,CH471053,AF075575,AI128455,AI192657,AI739271,AK074104,NM_001130979,AK074442,AK074649,AK295004,AK303364,AK310739,BC038246,BC171803,DB292971,DQ267935,EU515155,EU515156,EU515157,EU515158,EU515159,EU515160,EU515161,EU515162,EU515163,EU515164,EU515165,EU515166 ADQ57464,BAB84930,NP_001124451,NP_001124453,NP_001124452,NP_001124450,NP_003485,NP_001124449,NP_001124448,NP_001124454,NP_001124459,NP_001124457,NP_001124455,NP_001123927,NP_001124456,NP_001124458,AAY14954,AAY24199,CAA07800,CAD92859,EAW99763,EAW99764,EAW99765,AAC63519,BAB85086,BAG51981,BAH11947,BAH13950,ABB89736,ACB12752,ACB12753,ACB12754,ACB12755,ACB12756,ACB12757,ACB12758,ACB12759,ACB12760,ACB12761,ACB12762,ACB12763,A0FK00,O75923,Q7Z6P1,Q8TCI0,AAI72229 Hs.252180 FER1L1|FLJ00175|FLJ90168|LGMD2B OTTHUMP00000202233|OTTHUMP00000202234|OTTHUMP00000202235|OTTHUMP00000202236|OTTHUMP00000202237|OTTHUMP00000202240|dysferlin|dystrophy-associated fer-1-like 1|dystrophy-associated fer-1-like protein|fer-1-like protein 1 protein-coding 1346366 DYSFIP1 dysferlin interacting protein 1 16344560,15489334,14702039,12477932 116729 AC174470,NM_001007533,CH471099,AA722724,AF434846,AK096888,BC093707,BC112094,BI826571,BX281734,DA894509 NP_001007534,EAW89686,AAO67357,AAH93707,AAI12095,Q86WC6 Hs.454720 MGC138299 dysferlin interacting protein 1 (toonin)|dysferlin-interacting protein 1|dysferlin-interacting protein 1 (toonin)|toonin protein-coding 1344576 DYT12 dystonia 12 53589 1347826 DYT13 dystonia 13, torsion 93983 1345621 DYT14 dystonia 14 12084887 93984 1348928 DYT15 dystonia 15, myoclonic 12391345 317714 1345446 DYT2 dystonia 2, torsion (autosomal recessive) 1862 1347969 DYT3 dystonia 3 (with Parkinsonism) 19578124,17952504,16366515,12928496,7668293,1518853 1863 XM_002343817,XM_002346308,XM_002348161 XP_002343858,XP_002346349,XP_002348202 Hs.722619 XDP Torsion dystonia-parkinsonism, Filipino type|dystonia 3 (with Parkinsonism) protein-coding 1350596 DYT4 dystonia 4, torsion (autosomal dominant) 8432555 1864 1352121 DYT6 dystonia 6, torsion (autosomal dominant) 9382482 1865 1343573 DYT7 dystonia 7, torsion (autosomal dominant) 8894706 1866 1606642 DYTN dystrotelin 17233888 391475 NM_001093730,AC010731,DQ516347 NP_001087199,ABF55377,A2CJ06 Hs.640667 dystrotelin protein-coding 1351317 DYX1 dyslexia susceptibility 1 3652490,8981944 1867 1343869 DYX1C1 dyslexia susceptibility 1 candidate 1 1580863 20846247,21046216,20562859,19277710,19240663,19076634,19058789,18618141,18445785,17450541,17309662,15702132,15520411,15489334,15477871,15470369,15249932,14702039,12954984,12477932,8889548,16989952,15189447,19423554,19901951 161582 NM_001033560,NM_001033559,NM_130810,AC013355,AC022083,CH471082,AF337549,AK095201,AK302316,BC017392,BC062564,BM971229,NG_021213 NP_001028732,NP_001028731,NP_570722,EAW77490,EAW77491,AAL73230,BAC04498,BAG63654,AAH62564,Q8N1S6,Q8WXU2 Hs.126403 DYX1|DYXC1|EKN1|FLJ37882|MGC70618|RD dyslexia susceptibility 1 candidate gene 1 protein protein-coding 1346611 DYX2 dyslexia susceptibility 2 7939663 1868 1344027 DYX3 dyslexia susceptibility 3 10507721 11192 1351758 DYX4 dyslexia susceptibility 4 11496366 26300 1349139 DYX5 dyslexia susceptibility 5 11584043 171089 1351922 DYX6 dyslexia susceptibility 6 11743577 266691 1348487 DYX7 dyslexia susceptibility 7 14755455 266726 1350351 DYX8 dyslexia susceptibility 8 11424982,15108193 406874 1317042 DZIP1 DAZ interacting protein 1 15081113,16344560,15489334,14702039,12511597,12477932,11991713,10231032 22873 NM_014934,NM_198968,AL139376,CH471085,AB023213,AF272347,AF272348,AF339791,AK092363,AK094042,AK094990,AL049931,BC011450,BC018744,BC037327,BC041804,BF981831,CR606837,CR621496,DA782750 NP_055749,NP_945319,CAH71600,CAH71601,EAX08956,EAX08957,BAA76840,AAL36978,AAL36979,BAG52803,CAB43211,AAH18744,AAH41804,Q05D25,Q86YF9,EAX08958 Hs.656580 DZIP|DZIPt1|KIAA0996|RP11-23E3.3 DAZ interacting protein testis1|DAZ-interacting protein 1/2|OTTHUMP00000018564|OTTHUMP00000018565|zinc finger DAZ interacting protein 1|zinc finger protein DZIP1|zinc-finger protein DZIPt1 protein-coding 1344571 DZIP1L DAZ interacting protein 1-like 737633 14702039,12477932 737633 199221 NM_173543,AC023049,CH471052,AK057406,BC033308,AI283643,BQ424578,DR001616,NM_001170538 NP_775814,EAW79085,EAW79086,EAW79087,EAW79088,EAW79089,EAW79090,BAB71474,AAH33308,Q8IYY4,NP_001164009 Hs.351403 DZIP2|FLJ32844 DAZ-interacting protein 1-like protein|OTTHUMP00000216628|zinc finger protein DZIP1L protein-coding 1602727 DZIP3 DAZ interacting protein 3, zinc finger 19549727,20562859,12538761,18206970,16713569,15489334,14702039,12511597,12477932,9734811,16344560 9666 NM_014648,AC092185,AC092693,CH471052,CQ834634,AB014575,AF279370,AK023138,AK023389,AY227651,AY227652,AY227654,AY495710,BC012631,BC039018,BC056674,BC063882,AK294967,AK297451,AK303942,BX495180,DA494378 NP_055463,EAW79721,EAW79722,CAH05532,BAA31650,AAK69484,BAG51163,AAO72967,AAO72968,AAO72970,AAS75122,AAH39018,AAH56674,AAH63882,Q5MY58,Q86Y13,ACT64415,ACT64416,BAG58040,BAG59875,BAG64870,ADR82755 Hs.409210 FLJ13327|FLJ57977|FLJ58022|FLJ58223|KIAA0675|UURF2|hRUL138 DAZ-interacting protein 3|E3 ubiquitin-protein ligase DZIP3|OTTHUMP00000214430|RNA-binding ubiquitin ligase of 138 kDa|UURF2 ubiquitin ligase|human RNA-binding ubiquitin ligase of 138 kDa|zinc finger DAZ interacting protein 3 protein-coding 1346587 E11S ECHO virus (serotypes 4, 6, 11, 19) sensitivity 1878 730923 E2F1 E2F transcription factor 1 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq] 1580863,1300306,1300304,1300305,1300307,2316262 10199402,15731768,11418595,16360038,8653790,18029348,9190208,19576172,19541929,19523927,19453261,19406837,19391166,19360352,19303924,19289176,19276347,19188449,19115249,19088195,19077036,19064572,19041685,19034270,19031698,19022773,19015243,18840615,18836483,18813780,18806759,18794899,18751386,18722373,18695912,18687701,18660752,18660514,18649360,18644370,18562691,18524851,18521079,18503552,18459177,18391203,18381203,18366763,18358829,18348166,18345034,18345030,18328430,18302937,18235226,18172323,18172256,18167336,18056168,18039672,18026993,17913805,17910524,17908821,17881156,17825503,17786044,17707233,17704056,17692085,17690688,17686574,17641417,17638884,17638866,17630509,17597480,17570542,17566113,17550982,17535433,17471234,17471231,17452331,17360686,17341621,17328667,17178887,17135249,17127213,17081983,17062573,17050006,17012841,17011204,16984923,16972274,16918502,16916939,16912047,16892051,16775429,16717102,16652153,16620391,16596252,16582589,16580749,16512785,16510138,16481740,16476732,16434972,16407216,16394138,16374512,16299810,16264179,16211008,16188218,16186801,16170383,16114066,16107498,16052233,16037820,15944709,15917652,15735762,15716352,15713665,15647840,15574337,15517914,15517862,15489334,15485814,15481443,15467735,15381253,15371422,15361834,15313206,15306814,15279795,15187102,15169882,15140942,15123636,15121871,15118916,15073182,15044096,15024084,14997382,14739777,14681231,14645238,14637159,14593116,14576826,14576433,14576432,14555651,12965081,12947120,12947005,12809602,12789260,12766778,12717439,12697828,12679318,12532331,12511608,12501191,12477932,12450794,12389032,12149244,12118073,12095638,12082609,12077144,12065845,12036888,12032846,11939591,11884602,11780052,11763345,11759817,11739724,11733001,11583618,11559366,11486038,11459832,11331592,11314038,11162393,11151061,11042687,11034215,11034214,11032021,11005809,10965846,10888886,10850422,10725332,10619024,10597240,10559858,10547281,10523633,10428966,10321733,10022926,9780002,9708738,9689056,9525916,9501179,9422723,9418871,9368098,9368006,9244350,9199321,9181131,9125176,8964493,8932363,8896460,8846921,8816502,8755520,8618861,8413249,8405995,8170954,8087847,8033208,7969176,7958856,7958836,7838523,7474112,1638635,1638634,1448092,1411535,1388726,18162579,18367454,8657141,7739537,7892279,8657142,12397079,11470869,10869426,8230483,12411495,14500729,12065415,10734134,12748276,14638867,15949438,15674331,10766737,8246996,15619620,15271987,8816798,8816797,11799066,15706352,11799067,9632788,8346196,12646190,12629508,12607600,12598654,12588705,20423997,20510161,20447425,20685653,16758952,20603083,20664976,20713352,20855524,12674510,15766563,20187294,20215421,20233728,20413589,20421545,20623644,20411301,11268000,11278247,12963846,14627987,16249186,16616919,16774918,17006541,19176033,19409758,19477924,19491197,19597470,19603101,19629135,19703789,19738611,19759023,19763085,19783986,19833767,19837943,19841979,20026813,20029046,20040599,20106982,20123965,20226085,20421650,20410059,19893569,19960022,20354121,15494392,16357170,16766265,17111193,19015639,19826915,20538716,20585447,20729920 1300306,1300304,1300305,1300307,2316262 1869 NM_005225,AF516106,AL121906,CH471077,S74230,U47675,U47677,AF086380,BC005098,BC050369,BC058902,CR593152,CR594055,CR594440,CR599810,M96577,S49592,HI179088,CS542419,CS566134,GN346970 NP_005216,AAM47604,CAC08486,EAW76299,EAW76300,AAD14150,AAC50719,AAH05098,AAH50369,AAH58902,AAA35782,AAB24289,Q01094,Q9BSD8,CBX53852,CAM91159,CAN37617,CAY56011 Hs.654393 E2F-1|RBAP1|RBBP3|RBP3 PBR3|PRB-binding protein E2F-1|RBAP-1|RBBP-3|retinoblastoma-associated protein 1|retinoblastoma-binding protein 3|transcription factor E2F1 protein-coding 1348982 E2F2 E2F transcription factor 2 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq] 1580863 12477932,10766737,15574337,8246996,8657141,8246995,9190208,19142864,19074885,18345030,17916908,17588684,17341621,17135249,16710414,15716352,15489334,14702039,12566389,12502741,12411495,12145330,11733001,11719808,10965846,10727462,9694791,9688145,9144196,8846921,8832394,8755520,8657142,7739537,16169070,12748276,15949438,15861133,11799066,15735762,20855524,15706352,15017387,16360038,19690970,19738611,19748357,20226085,16951254,20819778,21048031 1870 NM_004091,AF518877,AL021154,CH471134,AF086395,AK092799,AK313939,BC007609,BC053676,BT019523,L22846 NP_004082,AAM54044,CAA15949,EAW95055,EAW95056,EAW95057,EAW95058,BAG36658,AAH07609,AAH53676,AAV38330,AAA16890,Q14209,Q5U0J0,Q96ID7 Hs.194333 E2F-2 transcription factor E2F2 protein-coding 1320122 E2F3 E2F transcription factor 3 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F2, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner. [provided by RefSeq] 1580863 10918599,10779352,10733529,9688145,9199321,9144196,8846921,8832394,8755520,8657141,7739537,7584044,10766737,15706352,15271987,15574337,11799066,15735762,11799067,16951254,21048031,20855524,9190208,19190782,18810376,18785023,18776222,18519660,18514338,18445275,18235226,18037967,17925491,17701752,17135249,16938365,16909110,16249186,16180235,16007192,15716352,15122326,14716298,14574404,12748276,12477932,12411495,11980909,11733001,17438371,8246996,19738611,19917728,20308562 1871 NM_001949,AF547386,AL132775,AL136303,CH471087,BC016847,BC099908,BC114554,CR597993,CR749285,D38550,W38841,Y10479 NP_001940,AAN17846,CAI21471,CAC28598,EAW55421,EAW55422,EAW55423,AAH16847,AAH99908,AAI14555,CAH18140,BAA07553,CAA71504,O00716,Q24JQ3,Q499G5,Q68DT0,Q96AR0,AAI56368,AAI72526 Hs.269408,Hs.703174 DKFZp686C18211|E2F-3|KIAA0075|MGC104598 transcription factor E2F3 protein-coding 1345418 E2F3P1 E2F transcription factor 3 pseudogene 1 8246996 1872 NG_005634,AC015911 pseudo 1345561 E2F3P2 E2F transcription factor 3 pseudogene 2 8246996 1873 1323111 E2F4 E2F transcription factor 4, p107/p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq] 1580863 15706352,15525513,16951254,20211142,21048031,16758952,17121828,17043659,17001309,16135806,15964557,15489334,15231644,12860972,12789259,12757710,12477932,12198120,12150994,12148576,12110166,12096339,12055184,12006580,11759817,11602203,11573202,11158323,11025371,11012981,11005809,10867026,10797289,10679953,10540350,10208422,10090723,10082561,9724731,9688145,9271426,9244350,9144196,9074408,8657117,8643455,7958925,7958924,7892279,10869426,12411495,9891079,12748276,15861133,15782160,10766737,11799067,11799066,11418595,14532282,9190208,18660489,18368381,17957245,17908821,17656449,17531812,17507799,15271987,8816797,15735762,15017387,16360038,17159899,19473719,19562678,19738611,19955219 1874 BU857680,NM_001950,AC040160,AF250378,AF527540,CH471092,AB451292,AB451425,BC021050,BC031071,BC033180,CR609179,CR614512,S75174,U15641,X86096,HI179032 NP_001941,AAF65226,AAM77918,EAW83094,EAW83095,EAW83096,BAG70106,BAG70239,AAH33180,AAB32597,AAC50119,CAA60050,Q16254,ABM83729,CBX53825 Hs.108371 E2F-4 p107/p130-binding protein|transcription factor E2F4 protein-coding 4109152 E2F4P1 E2F transcription factor 4, p107/p130-binding pseudogene 1 100131899 AL035464,NG_022354 pseudo 731057 E2F5 E2F transcription factor 5, p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq] 1580863,737812,1358139,1581726 7760804,7892279,9190208,19259095,19124506,18385796,16172982,15342556,15146197,12860972,12789259,12150994,12089160,11756542,11319226,11030352,10783242,9464260,9144196,8589754,7958925,7958924,15271987,15735762,20181230,16951254,21048031,20639900,16360038,19615732,19738611 737812,1581726 1875 HC250957,HC311146,NM_001951,NM_001083588,NM_001083589,AC011773,AY162833,CH471068,AB209185,AI740797,BM919591,BP224536,CN312917,CR599340,CR605094,DB534924,U15642,U31556,X86097,Z78409 CBJ05776,CBJ21228,NP_001942,NP_001077057,NP_001077058,AAN46737,EAW87122,EAW87123,BAD92422,AAC50120,AAB00179,CAA60051,CAB01634,Q15329,Q59GC4,AAI56211,AAI72475 Hs.445758 E2F-5 transcription factor E2F5 protein-coding 1605732 E2F6 E2F transcription factor 6 This gene encodes a member of the E2F transcription factor protein family. E2F family members play a crucial role in control of the cell cycle and of the action of tumor suppressor proteins. They are also a target of the transforming proteins of small DNA tumor viruses. Many E2F proteins contain several evolutionarily conserved domains: a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. The encoded protein of this gene is atypical because it lacks the transactivation and tumor suppressor protein association domains. It contains a modular suppression domain and is an inhibitor of E2F-dependent transcription. The protein is part of a multimeric protein complex that contains a histone methyltransferase and the transcription factors Mga and Max. Multiple transcript variants have been reported for this gene, but it has not been clearly demonstrated that they encode valid isoforms. [provided by RefSeq] 9501179,18562691,17908821,17600109,17001316,16344560,16107498,15815621,15574595,15536069,15489334,15474455,15081404,14702039,12909625,12477932,12004135,11171983,9704927,9689056,9373149,8125298,16189514,12411495,15960975,16565076,17468742,19738611,16951254,21048031 1876 NR_003095,NM_198256,NR_003093,NR_003092,NR_003094,AC099344,AJ493061,AY083997,AY551345,CH471053,AF041381,AF059292,AF088059,AK096197,AK223159,AK223407,AK290413,AK293504,AU132447,AU142999,AY083996,AY551346,AY551347,AY551348,AY551349,AY551350,AY551351,BC008348,BC062610,BC107740,BI772069,BQ447956,BU076470,CR603243,CR607422,CR621731 NP_937987,AAY14826,CAD37950,CAD37951,CAD37952,AAM10784,AAM10785,AAT02635,EAX00931,EAX00932,EAX00933,EAX00934,EAX00935,EAX00936,AAC14694,AAC31426,BAD96879,BAD97127,BAF83102,BAH11524,AAM10783,AAT02636,AAT02637,AAT02638,AAT02639,AAT02640,AAT02641,AAH08348,AAI07741,O75461,Q2Z196,Q2Z197,Q53F82,Q53FX2,Q53YM3,Q6Q9Z5,Q6Q9Z6,Q6Q9Z7 Hs.603093 E2F-6|MGC111545 E2F transcription factor 6, isoform 1|transcription factor E2F6 protein-coding 1321054 E2F7 E2F transcription factor 7 E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM] 15133492,19240061,19223542,18202719,17353931,17200349,16344560,15897886,14702039,14633988,12893818,12477932,20819778 144455 NM_203394,AC025161,AC079030,CH471054,AI380315,AK023043,AK096316,AK097677,BC016658,BC017481,BC136366,BC136367,CR606651,DB159890 NP_976328,EAW97338,EAW97339,EAW97340,BAG53257,BAG53510,AAH16658,AAI36367,AAI36368,Q96AV8 Hs.416375 FLJ12981 E2F-7|transcription factor E2F7 protein-coding 1605946 E2F8 E2F transcription factor 8 E2F transcription factors, such as E2F8, are essential for orchestrating expression of genes required for cell cycle progression and proliferation (Christensen et al., 2005 [PubMed 16179649]).[supplied by OMIM] 18202719,16179649,15897886,15722552,14702039,12477932,9373149,8125298,20211142,20068156 79733 NM_024680,AC009652,CH471064,AB231781,AK026964,AK055206,AK225338,AK292688,BC028244,BC090877,BC108700,BC126400,BC126402,BU164108,BX504614,CB959621,CR605237 NP_078956,EAW68354,BAE46901,BAB15605,BAF85377,AAH28244,AAH90877,AAI08701,AAI26401,AAI26403,A0AVK6,ADR83430 Hs.523526 E2F-8|FLJ23311 E2F family member 8|transcription factor E2F8 protein-coding 1348626 E4F1 E4F transcription factor 1 The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. [provided by RefSeq] 1580863 16189514,14729613,9121437,10869426,17557114,17110336,16652157,15579445,12477932,12446718,10644996,9763670,9530632,9373149,8828041,8125298,10608806,15231748 1877 HI573882,NM_004424,AC009065,CH471112,AB209008,AK225132,AK290329,AK296784,BC001713,BC014068,BC080524,BE245277,BF312518,U87269 CBX47430,NP_004415,EAW85531,EAW85532,EAW85533,BAD92245,BAF83018,BAG59362,AAH01713,AAH80524,AAD09139,Q59GV1,Q66K89,Q9BV18 Hs.513268,Hs.615283 E4F|MGC99614 p120E4F|p50E4F|putative E3 ubiquitin-protein ligase E4F1|transcription factor E4F|transcription factor E4F1 protein-coding 1320738 EAF1 ELL associated factor 1 17395368,17081983,16114057,16006523,15489334,14702039,12686606,12477932,11418481,20161747,16341674 85403 NM_033083,AC027125,CH471055,AA626023,AF272973,AK023217,AK304697,AK312330,AL698790,AW292089,BC029294,BC035167,BC041329,BI459315,BM836669,BM918150,BQ064584 NP_149074,EAW64234,AAK58687,BAG65467,AAH41329,Q96JC9 Hs.716733 ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1|ELL-associated factor 1 protein-coding 736664 EAF2 ELL associated factor 2 634486,1580863 17395368,16114057,16006523,15489334,12907652,12761297,12477932,12446457,11042152,18029348,19826414,20379614,20161747 634486 55840 NM_018456,AC072031,AC119736,CH471052,AF217516,AF517829,AK301560,AY049020,BC014209,BC014589,BU941228 NP_060926,EAW79497,EAW79498,AAF67627,AAO63811,BAG63055,AAL12223,AAH14209,Q96CJ1,ABM83574,ABM86813 Hs.477325 BM040|TRAITS|U19 ELL-associated factor 2|testosterone regulated apoptosis inducer and tumor suppressor|testosterone-regulated apoptosis inducer and tumor suppressor protein protein-coding 1320061 EAPP E2F-associated phosphoprotein This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. [provided by RefSeq] 16189514,15820313,15716352,15489334,14702039,12477932,11042152,9373149,8125298,18029348,18588995,17081983,16713569,17207965 55837 NM_018453,AL445363,CH471078,AF217512,AK000585,AK225467,AK225477,AK225991,AY157300,AY157301,AY869694,BC001245,CD702290,CR609381 NP_060923,EAW65920,EAW65921,EAW65922,AAF67623,BAA91271,AAO17041,AAO17042,AAX63200,AAH01245,Q56P03,ADQ31853 Hs.433269 BM036|C14orf11|FLJ20578|MGC4957 E2F-associated phosphoprotein protein-coding 1604541 EARS2 glutamyl-tRNA synthetase 2, mitochondrial (putative) 20877624,16344560,15779907,14702039,12477932,11853319,10493829,19805282 124454 NM_001083614,NR_003501,AC002400,CH471145,AB075850,AF088053,AK095998,AL832489,BC020592,BC040013,BX648129,CA306283,CR613598,DA692403,NG_027752 NP_001077083,AAC05815,EAW55821,EAW55822,EAW55823,EAW55824,EAW55825,BAB85556,BAG53194,CAI46121,AAH40013,O14563,Q5JPH6,Q86YH3,ACE87617,ACE86930 Hs.620541 KIAA1970|MSE1 gluRS|glutamate tRNA ligase 2, mitochondrial|glutamate--tRNA ligase|probable glutamyl-tRNA synthetase, mitochondrial protein-coding 1316400 EBAG9 estrogen receptor binding site associated, antigen, 9 This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor which binds to the estrogen-responsive element (ERE) found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Two transcript variants differing in the 5' UTR, but encoding the same protein, have been identified for this gene. [provided by RefSeq] 2289846,2289847,2289850,2289852,2289854,2289856,2289857,2289858,2289849,2289851,2298489,1580863 10426319,19337974,19030177,18688918,18292826,18032910,17981616,17849467,17845206,17825484,17717421,17604121,17516841,17466050,17187008,17187007,17081983,15254686,17562271,18029348,19032612,19122463,19574770,19634109,19813143,20079734,20164540,20571277,16907986,16595162,16273616,16211275,16175077,16113565,16112176,16012715,15904507,15867365,15813909,15635093,15592455,15489334,15460847,15164121,15144186,14981953,14534714,14514780,12888828,12845666,12774924,12672804,12477932,12138241,12054692,11992411,11743045,11705872,11435298,11298137,10873660,9418891,8889548,15808510,19957811,20570965 2289846,2289847,2289850,2289852,2289854,2289856,2289857,2289858,2289849,2289851,2298489 9166 NM_198120,NM_004215,AC079061,AF264617,AP000427,CH471060,AB007619,AF006265,AK290651,AK308950,AL515533,AY515724,AY653072,BC005249,BC017729,BC022506,BG427211,BG707115,BI194881,CA450508,CD108096,CR456984,CR593368,CR613560,CR621221 NP_936056,NP_004206,EAW91932,EAW91933,EAW91934,BAA22572,AAB61617,BAF83340,AAR97974,AAU85838,AAH05249,AAH17729,AAH22506,CAG33265,O00559,Q5Y8C7,Q6R3F1,ABM82390,ABM85568 Hs.409368 EB9|PDAF|RCAS1 cancer associated surface antigen|cancer-associated surface antigen RCAS1|estrogen receptor-binding fragment-associated gene 9 protein|receptor-binding cancer antigen expressed on SiSo cells protein-coding 1349579 EBF1 early B-cell factor 1 1580863 8012110,14594818,17101802,16344560,16255771,16106032,15920012,15489334,14702039,14630787,12748286,12477932,12446759,12077253,11994467,10942392,9151733,8497258,8491377,8321284,20423929,7796816,20378664,20379614,20435627,20592035,20861858 1879 BC041178,BM802733,DB231236,AC008442,AC008640,AC134043,AC136424,AC140770,CH471062,AF208502,AK096708,AK123757,AK289712,AK303698,AK304438,BC019927,BC038805,NM_024007 AAH38805,AAH41178,Q9UH73,ABZ92384,ACE87804,ACE87815,NP_076870,EAW61580,EAW61581,EAW61582,AAF19643,BAF82401,BAG64684,BAG65260,ACT64463,ACT64537,ADR82697 Hs.573143 COE1|EBF|FLJ39389|FLJ41763|O/E-1|OLF1 Collier, Olf and EBF transcription factor 1|OE-1|early b-cell factor|olfactory neuronal transcription factor 1|transcription factor COE1 protein-coding 1321920 EBF2 early B-cell factor 2 EBF2 belongs to the conserved Olf/EBF family (see MIM 164343) of helix-loop-helix transcription factors (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM] 1580863 15489334,14702039,12477932,12139918,9151732,9151733,16421571,16344560,19913121,20628086,20734064,19671856,20379614 64641 BC069747,BC069768,BC074794,BC113478,BC113504,BC137106,BC137107,NM_022659,AC023566,AC090103,AK001144,AK021562,AK304372,AL701879,AU120738,AY700779,BC069665,BC069726 AAH69726,AAH69747,AAH69768,AAH74794,AAI13479,AAI13505,AAI37107,AAI37108,Q66VZ3,Q9HAK2,AAI48639,NP_073150,BAB13843,BAH14170,AAU10086,AAH69665 Hs.710674 COE2|EBF-2|FLJ11500|O/E-3|OE-3 Collier, Olf and EBF 2|OLF-1/EBF-LIKE 3|metencephalon-mesencephalnon-olfactory transcription factor 1|transcription factor COE2 protein-coding 1346410 EBF3 early B-cell factor 3 634750,1580863 17353931,18559491,17018599,15164054,14702039,12477932,12355068,9151733,18845077,20029986 634750 253738 NM_001005463,AL354950,CH471066,AK055710,AK097335,AK098025,AL713797,AL832828,BC126130,BC130479 NP_001005463,CAI12791,CAI12792,CAI12793,EAW49159,EAW49160,EAW49161,CAH56225,AAI26131,AAI30480,Q658Y5,Q9H4W6,ADR83053 Hs.591374 COE3|O/E-2 EBF-3|OE-2|olf-1/EBF-like 2|transcription factor COE3 protein-coding 1625812 EBF4 early B-cell factor 4 EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM] 12477932,12139918,11780052,10718198 57593 NM_001110514,AL035460,CH471133,AB037863,BC010557,BC019106,BC037555,BC054347,BG750986 NP_001103984,CAB82244,EAX10576,BAA92680,AAH19106,AAH54347,Q7Z5T1,Q8WUY0,Q9BQW3 Hs.471955 COE4|KIAA1442|O/E-4|RP5-860F19.3 EBF-4|OE-4|OTTHUMP00000030042|olf-1/EBF-like 4|transcription factor COE4 protein-coding 1353395 EBI3 Epstein-Barr virus induced 3 This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq] 9342359,14743498,8551575,19556516,18784808,18336908,18167155,16189514,15489334,15231748,15170639,15057824,12477932,12121660,934235 10148 NM_005755,AC005578,CH471139,BC015364,BC046112,CR592116,CR592737,CR598195,CR602081,CR604910,CR606815,CR608081,CR610744,CR615391,CR615695,CR616709,CR626045,L08187,HH821931,HH821932 ABM82515,NP_005746,AAC33488,EAW69244,EAW69245,AAH15364,AAH46112,AAA93193,Q14213,ABW03382,CBX32665,CBX32666 Hs.501452 IL-27B|IL27B EBV-induced gene 3 protein|Epstein-Barr virus induced gene 3|IL-27 subunit beta|cytokine receptor|epstein-Barr virus-induced gene 3 protein|interleukin-27 subunit beta protein-coding 1347016 EBM epidermolysis bullosa, macular type 1881 1313990 EBNA1BP2 EBNA1 binding protein 2 1580863 18029348,17353931,7596406,19170763,18959818,16341674,15923612,15489334,15146197,12768013,12477932,11790298,11438656,11327720,10849420,10074103,9373149,8125298,7757816,2879624,18954305 10969 NM_001159936,AL139138,CH471059,AB451256,AB451381,AK223455,AK295006,AK299476,AK307440,BC009175,BC073924,BM791254,BT006920,NM_006824,CN390915,CR456975,CR590575,CR605280,CR605987,CR613176,CR613349,CR614881,CR616272,R49106,U86602,Z40246 NP_006815,NP_001153408,CAI18962,EAX07112,EAX07113,EAX07114,EAX07115,BAG70070,BAG70195,BAD97175,BAG58067,BAG61440,AAH09175,AAP35566,CAG33256,AAB46731,Q6IB29,Q99848 Hs.346868 EBP2|NOBP|P40 EBNA1-binding protein 2|nuclear FGF3 binding protein|nucleolar protein p40|nucleolar protein p40; homolog of yeast EBNA1-binding protein|probable rRNA-processing protein EBP2 protein-coding 1345811 EBP emopamil binding protein (sterol isomerase) The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq] 734908,1580863,2316868,2316857 18573709,17949453,16344560,15772651,15489334,12760743,12569389,12483303,12477932,17498944,17378690,11493318,10942423,10391218,9894009,8938429,7706302,10391219,18660489,18029348 734908,2316868,2316857 10682 NM_006579,NG_007452,AF196972,CH471224,AU128761,BC001549,BC001572,BC046501,CA488777,CR456815,CR542094,CR601932,CR603434,CR609847,CR615017,CR616138,CR619002,Z37986 NP_006570,EAW50773,EAW50774,EAW50775,AAH01549,AAH01572,AAH46501,CAG33096,CAG46891,CAA86068,Q15125,ABM82517,ABM85711,ABM85712 Hs.30619 CDPX2|CHO2|CPX|CPXD 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase|3-beta-hydroxysteroid-delta-8,delta-7-isomerase|Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)|D8-D7 sterol isomerase|OTTHUMP00000070508|OTTHUMP00000070509|cholestenol Delta-isomerase|delta(8)-Delta(7) sterol isomerase|emopamil-binding protein (sterol isomerase)|sterol 8-isomerase protein-coding 1312086 EBPL emopamil binding protein-like 1580863 16806233,15489334,12760743,12477932 84650 NM_032565,AL135901,CH471075,AA677833,AF243433,BC018478,BC021021,BC073152,BC092471,CA437822,CR618798,HH961778 NP_115954,CAI40717,CAI40718,CAI40719,CAI40720,CAI40721,EAX08832,EAX08833,EAX08834,EAX08835,EAX08836,AAK28348,AAH18478,AAH73152,AAH92471,Q6GPH7,Q9BY08,ABM82447,ABM85637,CBX51362 Hs.433278 EBRP|RP11-432M24.2 emopamil binding related protein, delta8-delta7 sterol isomerase related protein|emopamil-binding protein-like|emopamil-binding-related protein protein-coding 1345572 EBR3 epidermolysis bullosa 3, progressiva 1884 1354209 EBR4 epidermolysis bullosa 4, pseudojunctional (intraepidermal) 1885 1350056 EBS1 epidermolysis bullosa simplex 1 (Ogna) 1349413 EBVM1 Epstein Barr virus modification site 1 2843323,14526168 1887 1350687 EBVS1 Epstein Barr virus insertion site 1 6095452 1888 K02579 1342653 ECA1 epilepsy, childhood absence 1 50966 1604642 ECD ecdysoneless homolog (Drosophila) 9928932,17081983,16344560,16341674,15489334,15128659,14702039,12477932,9373149,8125298,16385451,19919181 11319 NM_001135753,NM_007265,NM_001135752,AC016394,CH471083,AK022616,AK225519,AK315711,NR_024203,BC000721,BC103720,BM763002,CR457407,D88208,DA162516 NP_001129225,NP_009196,NP_001129224,EAW54477,EAW54478,BAG51097,AAH00721,CAG33688,BAA75199,O95905,Q6I9U8,ABM83098,ABM86292 Hs.631822 GCR2|HSGT1 protein SGT1|protein ecdysoneless homolog|suppressor of GCR2|suppressor of S. cerevisiae gcr2 protein-coding 731823 ECE1 endothelin converting enzyme 1 Endothelin-converting enzyme-1 is involved in the proteolytic processing of endothelin-1 (EDN1; MIM 131240), -2 (EDN2; MIM 131241), and -3 (EDN3; MIM 131242) to biologically active peptides.[supplied by OMIM] 1580902,1580904,734909,1580906,1580908,1580909,1580910,1580911,1580912,734910,1581735,1580863,735003 10833511,10438732,9396733,17295044,17264805,17081983,16986361,16710414,16698938,16567585,16531800,16526315,16344560,16289162,16263699,16234608,16023075,15665524,15489334,15342556,15340356,15240857,15146197,15126915,15010576,14597855,12609744,12477932,12464614,12393864,12244060,12011762,11906289,11723113,7864876,7805846,18039931,9915973,18029348,9710124,9449382,19289136,19222484,18992253,18974277,18781169,18660489,18334739,17977716,17761169,17712175,17701914,17664854,17618613,17592116,9595387,9253714,8889548,8641140,8530372,7695628,17545092,20663017,10620363,10491078,19913121,20485444,20628086,19531493,19889475,20037208,20346360,8062389,20558134,20725143,20345647,20538960 1580902,1580904,734909,1580906,1580908,1580909,1580910,1580911,1580912,734910,1581735,735003 1889 NM_001397,NM_001113349,NM_001113347,AF018034,AL031005,AL031728,AY953519,CH471134,X91922,X91923,AB031742,AJ130828,AK290656,AK296486,AK304167,AK309677,NM_001113348,BC023596,BC041647,BC063506,BC106022,BC117256,BC126257,BP234532,BP337331,BU733112,BX648351,CN298523,CN298525,CR595983,D43698,D49471,DA436879,DA445355,DA445401,DB290492,X98272,Z35307,NG_013008 NP_001106819,NP_001388,NP_001106820,NP_001106818,AAD21221,CAI20192,CAI20193,CAI20194,CAI20195,CAB52285,CAI19064,AAX35820,EAW94957,EAW94958,EAW94959,EAW94960,EAW94961,EAW94962,EAW94963,EAW94964,EAW94965,EAW94966,CAA63015,CAA63016,BAA83687,CAB46443,BAF83345,BAG59124,BAG65053,AAI17257,AAI26258,BAA07800,BAA08442,CAA66922,CAA84548,P42892,Q2Z2K8,ADR83113 Hs.195080 ECE ECE-1|endothelin-converting enzyme 1 protein-coding 1349338 ECE2 endothelin converting enzyme 2 Endothelin-converting enzymes, such as ECE2 (EC 3.4.24.71), are type II metalloproteases that generate functionally pleiotropic members of the endothelin vasoactive peptide family (Lorenzo et al., 2001 [PubMed 11718899]).[supplied by OMIM] 1580863 19626040,11718899,19541930,19089949,17188679,16567585,12975309,12477932,11181995,11078322,9628581,17545092,17207965,20807771,21102462 9718 NM_014693,NM_032331,NM_001100120,NM_001100121,NM_001037324,AC061705,AC078797,CH471052,AB011176,AF192531,AF428263,AF428264,AF521189,AK293713,AK293891,AK295270,AK296541,AK309236,AY359003,BC005835,BC012449,BC069005,BC142950,BU568980,CR595932,CR620009 NP_055508,NP_115707,NP_001093590,NP_001093591,NP_001032401,EAW78273,EAW78274,EAW78277,EAW78275,EAW78276,EAW78278,EAW78279,BAA25530,AAG28399,AAL30386,AAL30387,AAM77664,BAH11577,BAG57280,BAG58256,BAG59165,AAQ89362,AAH05835,AAH12449,AAH69005,AAI42951,O60344,AAI46831,ADQ32839 Hs.146161 KIAA0604|MGC17664|MGC2408|MGC78487 ECE-2|OTTHUMP00000210689|endothelin-converting enzyme 2 protein-coding 731078 ECEL1 endothelin converting enzyme-like 1 This gene encodes a member of the M13 family of endopeptidases. In general, M13 family members are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. This gene is expressed specifically in the central nervous system and its protein localizes predominately to the endoplasmic reticulum or, in trace amounts, to the cell surface. Disruption of this gene in mouse embryonic stem cells results in neonatal lethality due to respiratory failure shortly after birth. Based on the specific expression of this gene and the phenotype of the gene deficiency in mouse embryos, it is suggested that this protein plays a critical role in neural regulation of the respiratory system. This gene has multiple pseudogenes. [provided by RefSeq] 632557,1580863,734911 9931490,18192274,15815621,15489334,14992683,12975309,12632073,12477932,11352565,10698686 632557,734911 9427 AC092165,AF307337,AJ130734,CH471063,AB030579,AB073895,AY358923,BC050453,BM564570,DQ114476,Y16187,NM_004826 NP_004817,AAY24101,CAB86601,EAW70999,EAW71000,BAC66225,AAQ89282,AAH50453,AAZ22338,CAA76113,Q86SN0,O95672 Hs.26880 DINE|ECEX|XCE OTTHUMP00000203712|X converting enzyme|damage induced neuronal endopeptidase|endothelin-converting enzyme-like 1 protein-coding 1354214 ECEL1P1 endothelin converting enzyme-like 1, pseudogene 1 11352565 260331 1343097 ECEL1P2 endothelin converting enzyme-like 1, pseudogene 2 12477932,11352565,10698686 347694 NR_028501,AC068134,AJ250424,BC067110 Hs.452575 ECEL2 pseudo 1343538 ECEL1P3 endothelin converting enzyme-like 1, pseudogene 3 11352565,10698686 260332 NG_002700,AC068134,AJ250423 pseudo 732278 ECH1 enoyl Coenzyme A hydratase 1, peroxisomal This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq] 68827,1300048,1580863 7558027,15383276,17081983,16615866,15489334,14500732,12477932,9417087,16169070,20877624,16482509,18029348 68827 1891 AC008982,AC104534,AF030249,CH471126,AK126566,AK291860,AK301211,AV738478,BC011792,BC014786,BC017408,BG527600,CR591368,CR593921,CR598218,CR600133,CR600240,NM_001398,CR610523,CR611035,CR615338,CR620208,CR620644,CR622906,CR625294,U16660,CR603672 NP_001389,AAB86485,EAW56821,EAW56822,EAW56823,EAW56824,EAW56825,BAF84549,BAG62786,AAH11792,AAH17408,AAC50222,Q13011,ABM83852,ABM87174 Hs.196176 HPXEL delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial|delta3,5-delta2,4-dienoyl-CoA isomerase|dienoyl-CoA isomerase|enoyl Coenzyme A hydratase 1, peroxisomal|enoyl coenzyme a hydratase 1|peroxisomal enoyl-CoA hydratase 1 protein-coding 1346197 ECHDC1 enoyl Coenzyme A hydratase domain containing 1 1580863 18326623,16344560,15489334,14702039,14574404,12477932,8889548,19517271,19789366,20407466,17207965 55862 NM_001105544,NM_018479,NM_001002030,NM_001139510,AL109939,CH471051,AF220192,AK021464,AK025760,AK025796,AK098146,AK303812,AL834469,NM_001105545,BC003549,BE896631,BQ224769,BU684175,CR626117,DA846978,DC297239 NP_001099015,NP_001099014,NP_060949,NP_001002030,NP_001132982,CAB76256,CAI20295,CAI20296,CAI20297,CAI20298,CAI20299,CAI20301,CAI20302,EAW48101,EAW48102,EAW48103,EAW48104,EAW48105,EAW48106,EAW48107,EAW48108,AAF67657,BAH14056,CAD39128,AAH03549,Q5TEF6,Q5TEF7,Q5TEG0,Q5TEG3,Q5TEG5,Q9NTX5,Q9NZ30,ACE87391,ACE86706,ADQ31866 Hs.486410 DKFZp762M1110|FLJ40827|dJ351K20.2 OTTHUMP00000017166|OTTHUMP00000017167|OTTHUMP00000017168|OTTHUMP00000017172|OTTHUMP00000017173|enoyl Coenzyme A hydratase domain containing 1|enoyl-CoA hydratase domain-containing protein 1 protein-coding 1349844 ECHDC2 enoyl Coenzyme A hydratase domain containing 2 1580863 17207965,14702039,12477932,17137291,16344560,8889548 55268 AC099677,CH471059,AF258590,AK001810,AK307381,AK310650,AL832874,BC038389,BC040480,BC044574,BC051887,NM_018281,CR614256,AK299834,AK300896,AK302285,AA946561,AK309535,AK315906,BX647186,BX648522,CF127686,DA868944,NM_001198961,NM_001198962 ADQ32500,NP_060751,EAX06763,EAX06764,EAX06765,EAX06766,EAX06767,EAX06768,AAG23793,BAA91922,AAH44574,AAH51887,Q86V13,Q86YB7,Q8WY60,BAG61701,BAG62535,BAH13666,BAH14277,NP_001185890,NP_001185891 Hs.476319,Hs.707047 DKFZp686F0985|DKFZp686K13244|FLJ10948|FLJ45240|FLJ51075|FLJ52213|FLJ52450|FLJ78805|FLJ99576|MGC57155 OTTHUMP00000010484|enoyl Coenzyme A hydratase domain containing 2|enoyl-CoA hydratase domain-containing protein 2, mitochondrial protein-coding 1351756 ECHDC3 enoyl Coenzyme A hydratase domain containing 3 737633 15342556,12477932,9373149,8125298,20877624 737633 79746 AL138898,NM_024693,CH471072,AF275677,AF289604,AK024562,AK222511,AK290902,BC001091,BC009617,BP332406,CR599557,CR601232,CR621986,CR624346 CAH73455,CAH73456,CAH73457,NP_078969,EAW86340,EAW86341,EAW86342,AAG24387,AAL55788,BAB14928,BAD96231,BAF83591,AAH01091,AAH09617,Q5W0J6,Q96DC8 Hs.22242 FLJ20909 OTTHUMP00000019085|OTTHUMP00000019086|enoyl Coenzyme A hydratase domain containing 3|enoyl-CoA hydratase domain-containing protein 3, mitochondrial protein-coding 734312 ECHS1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq] 1300048,1580863,2317616 13295248,9073515,17353931,16130169,17395278,15489334,15164054,12477932,12358155,11271497,8012501,7669045,1988037,1602151,1286669,16169070,20877624,20562859,19913121,20628086,14557246,18029348 2317616 1892 NM_004092,AL360181,CH471211,X98126,X98129,BC008906,BC013264,BE906357,BI091611,BQ130816,BT007123,CR591080,CR591488,CR594615,CR596739,CR597975,CR605028,CR607561,CR616268,CR626651,D13900 NP_004083,CAH70286,EAW61339,CAA66808,AAH08906,AAP35787,BAA03001,P30084 Hs.76394 SCEH enoyl Coenzyme A hydratase, short chain, 1, mitochondrial|enoyl-CoA hydratase 1|enoyl-CoA hydratase, mitochondrial|short-chain enoyl-CoA hydratase protein-coding 1605731 ECM1 extracellular matrix protein 1 This gene encodes an extracellular protein containing motifs with a cysteine pattern characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family. This gene maps outside of the epidermal differentiation complex (EDC), a cluster of three gene families involved in epidermal differentiation. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 12761501,9367673,19275936,19230975,19219685,19068216,18443958,18438406,18200062,17927570,17721643,16713569,16512877,16344560,16335952,16274456,14702039,14550953,12603844,12477932,11929856,10733679,9501329,601588,20870722,20805453,11165938,11292659,12604605,15990087,19519837,19521735,19734986,19861958,20014019 1893 NM_004425,NM_022664,NG_012062,AL356356,CH471121,U65938,AK097046,AK097205,AK292435,AK301369,AK302279,AK316390,BC023505,CA413352,CR590823,CR593353,CR596945,CR603901,CR606666,CR609963,CR616494,CR622085,CR624464,DA963826,U65932,U68186,U68187 NP_004416,NP_073155,CAI15491,CAI15492,CAI15493,EAW53544,EAW53545,EAW53546,EAW53547,AAB05934,BAG53412,BAF85124,BAG62911,BAG63622,BAH14761,AAH23505,AAB05933,AAB88081,AAB88082,Q16610,ABM83937,ABM87256 Hs.81071 extracellular matrix protein 1|secretory component p85 protein-coding 1318155 ECM2 extracellular matrix protein 2, female organ and adipocyte specific ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix protiens. [provided by RefSeq] 1580863 9790758,16381901,15489336,15489334,15164053,12477932,11230166,11076863,9345023,8889548 1842 NM_001393,AL137848,AL157827,CH471089,AB011792,AK296458,AK298278,AK303922,AK308485,AK312820,BC036806,BC105958,BC107493,BX537976,BM972177,DC300418,NM_001197295,NM_001197296 NP_001384,CAI16693,CAI12587,CAI12588,CAI12589,EAW62824,BAA33958,BAG59105,BAG60538,BAG64850,BAG35677,AAH36806,AAI05959,AAI07494,CAD97940,O94769,Q3KR19,Q5T9F3,Q5T9F4,Q6PID0,CAL38001,NP_001184224,NP_001184225 Hs.117060 MGC126355|MGC126356 extracellular matrix protein 2|matrix glycoprotein SC1/ECM2 protein-coding 1602094 ECOP EGFR-coamplified and overexpressed protein 19525979,19505301,17515955,16943533,16381901,16303743,15735698,15489336,15146197,14702039,12761501,12477932,11256614,11230166,8125298,9373149,11076863,19851296,20198315 81552 NM_030796,AC073237,AC073347,AC099681,CH236957,CH471201,AB097004,AF395824,AK000539,AK075391,AK090825,AK092992,AK126848,AK225755,AK309288,AK314338,AK315882,AL136610,BC016650,CN299440,CR533483,CR606724 NP_110423,EAL23811,EAW50969,EAW50970,EAW50971,EAW50972,BAC77357,AAK82888,BAC11590,BAG52634,BAG36981,BAF98773,CAB66545,AAH16650,CAG38514,CAL37999 Hs.488307 DKFZp564K0822|ECOP|FLJ20532|GASP EGFR-coamplified and overexpressed protein|Glioblastoma-amplified secreted protein|OTTHUMP00000209217|OTTHUMP00000209218|OTTHUMP00000209221 protein-coding 2303680 ECSCR endothelial cell-specific chemotaxis regulator 18556573,19416853,19267780,19240791,12477932 641700 NM_001077693,AC138517,AC142391,AC188049,BC146912,BC146913,DQ462572,EU025066 NP_001071161,AAI46913,AAI46914,ABE73209,ABW05062,Q19T08 Hs.483538 ARIA|ECSM2 OTTHUMP00000223444|OTTHUMP00000223776|endothelial cell-specific chemotaxis regulator|endothelial cell-specific molecule 2 protein-coding 1602709 ECSIT ECSIT homolog (Drosophila) 17344420,16169070,15761153,14633973,12477932,10465784,20877624 51295 NM_001142465,NM_001142464,NM_016581,NR_024551,AC008481,CH471106,AF243044,AK314905,BC000193,BC005119,BC008279,BE791936,CR457204,CR592177,CR594733,CR596229,CR599347,CR602583,CR604665,CR605421,CR608548,CR610188,CR613109,CR614297,CR615551,CR616028,CR616122,CR616948,CR618925,CR621338,CR624195,CR625388 NP_001135937,NP_001135936,NP_057665,EAW84223,AAF62100,AAH00193,AAH05119,AAH08279,CAG33485,Q9BQ95 Hs.515146 SITPEC evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial|likely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved|signaling intermediate in Toll pathway evolutionarily conserved ortholog|signaling intermediate in Toll pathway, evolutionarily conserved protein-coding 1318344 ECT2 epithelial cell transforming sequence 2 oncogene The protein encoded by this gene is a transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. [provided by RefSeq] 1580863 19008376,16129829,12761501,19118053,19015243,18842503,18642445,18511905,17942602,17688947,17488623,17115030,16964243,16862181,16803869,16778203,16352658,16247472,16170345,16118207,16103226,15642749,15545273,15254234,14702039,14668487,14587037,12477932,12376551,10837491,10579713,8889549,8464478,7665179,20734064,11756498,12376548,12787561,17474147,19468300,19468302,19617897 1894 NM_018098,AC108667,CH471052,AK001323,AK001515,AK023267,AK027713,AK308391,AK314581,AL137710,AY376439,BC006838,BC006987,BC070038,BC112086,DQ847274 NP_060568,EAW78460,EAW78461,BAA91624,BAB14498,BAB55317,BAG37157,CAB70886,AAQ83675,AAH06838,AAI12087,ABH10140,Q0MT80,Q6U836,Q96J05,Q96SJ9,Q9H8V3 Hs.518299 ARHGEF31|FLJ10461|MGC138291 OTTHUMP00000210686|epithelial cell-transforming sequence 2 oncogene|protein ECT2 protein-coding 1353624 ECT2L epithelial cell transforming sequence 2 oncogene-like 16344560,12477932,20379614 345930 NM_001077706,AL121834,BC146884,DB221732,DN831912,DQ904331,DV080594,DC416153,DC418522,NM_001195037,DC415949,AK304425 NP_001071174,AAI46885,ABI98401,Q008S8,NP_001181966,BAH14180 Hs.660603 ARHGEF32|C6orf91|FBXO49|LFDH|dJ509I19.2|dJ509I19.3|dJ509I19.5 ECT2-like|OTTHUMP00000017301|chromosome 6 open reading frame 91|epithelial cell-transforming sequence 2 oncogene-like|lung specific F-box and DH domain containing protein|lung-specific F-box and DH domain-containing protein|putative guanine nucleotide exchange factor LFDH APPROVED protein-coding 1348155 EDA ectodysplasin A The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq] 1580863,1598881 8889548,20486090,11039935,8696334,10484778,9736768,19278982,19127222,18821982,18702659,18688569,18666859,18657636,18633626,18545687,18427821,18076698,17970812,17478381,17256800,17102627,16752854,16583127,16423472,15772651,15663448,15489334,14656435,12930312,12920369,12673367,12477932,12270937,11416205,11378824,11309369,11167539,10469321,9683615,9630076,9507389,9487109,8554048,12682853,11035039,11780064,19438931,19504606,19551394,19590514,19623212,19657145,19816326,20195514,20237496,20501644 1598881 1896 BU608133,CA433299,NM_001005613,NG_009809,AC002416,AF003528,AF060998,AL158069,AL158141,AL392090,AL450448,AL450449,CH471132,U59227,AF040628,AF060999,AF061189,AF061190,AF061191,AF061192,AF061193,AF061194,AK311532,BC126143,BC144049,BC144051,BE892420,BQ008767,BQ422683,NM_001399,NM_001005609,NM_001005612,NM_001005610,U59228 CAM14498,NP_001005613,AAB65831,AAC36303,CAI41611,CAI41612,CAI40385,CAI39805,CAI39806,EAX05360,EAX05361,EAX05362,AAC50678,AAC77363,AAC36302,AAC77371,AAC77372,AAC77373,AAC77374,AAC77375,AAC77376,AAI26144,AAI44050,AAI44052,NP_001390,NP_001005609,NP_001005612,NP_001005610,AAC50679,Q92838,CAM17680,CAM24742 Hs.105407 ED1|ED1-A1|ED1-A2|EDA1|EDA2|HED|STHAGX1|XHED|XLHED OTTHUMP00000217255|OTTHUMP00000217279|X-linked anhidroitic ectodermal dysplasia protein|ectodermal dysplasia protein|ectodysplasin-A protein-coding 1344270 EDA2R ectodysplasin A2 receptor EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support. [provided by RefSeq] 1580863 15280356,11039935,12270937,18385763,16423472,15489334,12975309,12477932,12060722,19373488,19543321,19590514,20199557,20501644,15342556,17207965 60401 NM_021783,AL353136,CH471132,AF298812,AK296264,AK299018,AK314881,AY152724,AY358735,AY358736,BC034919,NG_013271,BP249106,DC368837,NM_001199687,NM_001199688,NM_001199689 NP_068555,CAH70433,CAH70434,EAX05382,AAG28761,BAG58977,BAG61098,BAG37396,AAN73210,AAQ89952,AAQ89953,AAH34919,Q9HAV5,NP_001186616,NP_001186617,NP_001186618,ADQ32117 Hs.302017 EDA-A2R|EDAA2R|TNFRSF27|XEDAR EDA-A2 receptor|OTTHUMP00000023449|X-linked ectodysplasin-A2 receptor|tumor necrosis factor receptor superfamily member 27|tumor necrosis factor receptor superfamily member XEDAR protein-coding 1344202 EDAR ectodysplasin A receptor This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq] 1598883,1580863 19438931,19551394,19804850,20199431,20237496,11035039,10431241,18704500,18561327,18231121,18065779,17970812,17501952,16435307,16423472,15489334,15340161,14729942,12477932,12270937,11997580,11882293,11780064,11570810,11309369,11039935,9545409,9375732,19913121,20033817,20628086 1598883 10913 NG_008257,AC073415,AC092160,AC133784,AF130996,CH471182,AF130988,AI017384,AK296936,AK313781,BC093870,BC093872,CR749352,NM_022336 NP_071731,AAD50077,EAW53868,EAW53869,AAD50076,BAG59487,BAG36519,AAH93870,AAH93872,CAH18205,Q68DL5,Q9UNE0,ACE87492,ACE86805 Hs.171971 DL|ED1R|ED3|ED5|EDA-A1R|EDA1R|EDA3|FLJ94390|HRM1 EDA-A1 receptor|OTTHUMP00000203902|anhidrotic ectodysplasin receptor 1|downless homolog|downless, mouse, homolog of|ectodermal dysplasia receptor|ectodysplasin 1, anhidrotic receptor|ectodysplasin-A receptor|tumor necrosis factor receptor superfamily member EDAR protein-coding 1351297 EDARADD EDAR-associated death domain This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 11780064,16710414,14702039,12477932,11997580,11882293,11035039,9245989,20222921 128178 AY028913,AY028914,AY071862,BC006533,BC114557,BC114560,BC128082,AK314634,NM_145861,NM_080738,NG_011566,AL136105,AL354693,AY028912,CH471098,AK096339,AK290862,AK291930,BC046928 BAG37197,AAK40287,AAK40288,AAL60590,AAI28083,Q8WWZ3,NP_665860,NP_542776,CAI22302,CAI22303,CAI22304,CAH70608,CAH70609,CAH70610,AAK40285,AAK40286,EAW70047,EAW70048,EAW70049,EAW70050,EAW70051,EAW70052,BAF83551,BAF84619 Hs.352224 ED3|EDA3 EDAR-associated death domain protein|OTTHUMP00000037859|crinkled homolog|ectodysplasia A receptor associated death domain|ectodysplasin A receptor associated adapter protein|ectodysplasin-A receptor-associated adapter protein|protein crinkled homolog protein-coding 1604794 EDC3 enhancer of mRNA decapping 3 homolog (S. cerevisiae) EDC3 is associated with an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM] 15498874,15489334,15324660,15225602,14702039,12477932,9373149,8125298,16364915,17353931,18678652,17923697,17533573,16964243,16344560,19285948,19615732 80153 NM_025083,NM_001142443,NM_001142444,AC091230,AC100835,CH471136,AF193058,AK024781,AK056339,AK225099,AL133447,BC011534,BC021271,BM999594,CA440205,DA168050,DB007958 NP_079359,NP_001135915,NP_001135916,EAW99316,EAW99317,EAW99318,EAW99319,AAG22486,BAB15001,BAG51682,AAH11534,AAH21271,Q96F86 Hs.96852,Hs.682454 FLJ21128|FLJ31777|LSM16|YJDC|YJEFN2 LSM16 homolog (EDC3, S. cerevisiae)|enhancer of mRNA-decapping protein 3|hYjeF_N2|hYjeF_N2-15q23|yjeF N-terminal domain-containing protein 2|yjeF domain containing|yjeF domain-containing protein 1|yjeF_N2 protein-coding 1606564 EDC4 enhancer of mRNA decapping 4 7520377,12477932,15231747,16364915,9067524 23644 NM_014329,AC040162,CH471092,AI076562,AK128582,AK291049,AK302563,BC043616,BC053598,BC064567,BX445706,CR594351,CR601781,CR618363,L26339,U17474 NP_055144,EAW83183,BAF83738,BAH13744,AAH43616,AAH53598,AAH64567,AAA21833,AAB51444,Q6P2E9 Hs.75682 Ge-1|HEDLS|RCD-8 autoantigen Ge-1|autoantigen RCD-8|enhancer of mRNA-decapping protein 4|human enhancer of decapping large subunit protein-coding 3516429 EDDM3DP epididymal protein 3D (pseudogene) 100128220 AADB02016058,ABBA01061235,AL163636 pseudo 1349759 EDEM1 ER degradation enhancer, mannosidase alpha-like 1 1580863 20065073,16449189,19524542,19266160,18452703,17360537,16629899,15579471,15489334,15146197,12610306,12610305,12477932,11375934,9039502,17353931,19934218,17499246,18303019 9695 NM_014674,AC026202,CH471055,AK292643,AK298511,AK302065,BC019088,CN364698,CR597249,CR621147,D86967 NP_055489,EAW63925,EAW63926,BAF85332,BAG60717,BAG63455,AAH19088,BAA13203,Q92611,Q96EZ6,ABM83604,ABM86847 Hs.224616 EDEM|FLJ51559|FLJ51560|KIAA0212 ER degradation enhancing alpha mannosidase-like|ER degradation-enhancing alpha-mannosidase-like 1|OTTHUMP00000206911 protein-coding 1354312 EDEM2 ER degradation enhancer, mannosidase alpha-like 2 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM] 20802025,15579471,15537790,15489334,15342556,14702039,12975309,12477932,11780052,9110174,8619474,16169070,17499246,18303019 55741 NM_001145025,NM_018217,AL135844,AL356652,CH471077,AF086313,AI919497,AK001645,AK023931,AK096016,AK293583,AK296878,AK298794,AK300212,AK303816,NR_026728,AY007088,AY358580,BC001371,BC016184,BP297100,BU188881,CR457266,CR590035,CR591753,CR593253,CR594587,CR598404,CR600513,CR601922,CR602215,CR610779,CR612837,CR624527,CR625751 NP_001138497,NP_060687,CAI19292,CAH73763,EAW76225,EAW76226,EAW76227,EAW76228,BAA91806,BAB14731,BAG57052,BAG59440,BAG60931,BAG61981,BAG64766,AAQ88943,AAH01371,AAH16184,CAG33547,Q9BV94 Hs.720177 C20orf31|C20orf49|FLJ10783|bA4204.1 ER degradation-enhancing alpha-mannosidase-like 2|ER degradation-enhancing-mannosidase-like protein 2 protein-coding 1353394 EDEM3 ER degradation enhancer, mannosidase alpha-like 3 Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM] 16710414,16431915,16344560,15579471,15537790,12477932,11318611,9373149,8125298,14702039,17499246,18303019 80267 NM_025191,AL096819,CH471067,AF288393,AI521228,AK000945,AK023095,AK225171,AK315118,AL117441,BC016464,BC070173,BC105586,BC144149,BC144150,DA724785,DB292148 NP_079467,CAI21741,EAW91178,EAW91179,EAW91180,EAW91181,EAW91182,EAW91183,AAG60613,BAA91438,BAB14402,BAG37573,CAB55926,AAH16464,AAI44150,Q9BZQ6,Q9H941,Q9NWE4,AAI60020,AAI05587 Hs.523811 C1orf22 ER degradation-enhancing -mannosidase-like protein 3|ER degradation-enhancing alpha-mannosidase-like 3|chromosome 1 open reading frame 22 protein-coding 1317635 EDF1 endothelial differentiation-related factor 1 This gene encodes a protein that may regulate endothelial cell differentiation. It has been postulated that the protein functions as a bridging molecule that interconnects regulatory proteins and the basal transcriptional machinery, thereby modulating the transcription of genes involved in endothelial differentiation. This protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Two alternatively spliced transcripts which encode distinct proteins have been found for this gene. [provided by RefSeq] 1580863 12040021,10567391,9813014,8164657,16567061,15489334,15164053,15112053,12477932,10816571,10469174,16880509,18029348 8721 BT009863,CR541914,NM_003792,NM_153200,AL355987,CH471090,CS185530,AB002282,AB002283,BC015500,HH770500,HH770560 AAH15500,AAP88865,CAG46712,O60869,ABM82503,ABM85696,NP_003783,NP_694880,CAI12697,CAI12698,CAI12699,EAW88296,EAW88297,EAW88298,CAJ42711,BAA88073,BAA88074,CBX85963,CBX85993 Hs.174050 EDF-1|MBF1|MGC9058 OTTHUMP00000022618|endothelial differentiation-related factor 1|multiprotein bridging factor 1|multiprotein bridging factor-1|multiprotein-bridging factor 1 protein-coding 1343635 EDIL3 EGF-like repeats and discoidin I-like domains 3 The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq] 1580863 20950786,20237162,20379614,9420328,19578876,18090124,12477932,12074641,11959660,20857535 10085 NM_005711,AC010600,AC020936,AC020938,AC026440,AC093296,AC109496,CH471084,AA053720,AK312858,BC030828,BC053656,BX648583,U70312,U70313 NP_005702,EAW95916,EAW95917,EAW95918,BAG35710,AAH30828,AAH53656,AAC02648,AAC02649,O43854,Q8N610,ACE87368,ACE87404,ACE86684,ACE86718 Hs.482730 DEL1|MGC26287 EGF-like repeat and discoidin I-like domain-containing protein 3|developmental endothelial locus-1|developmentally-regulated endothelial cell locus 1 protein|integrin-binding protein DEL1 protein-coding 730848 EDN1 endothelin 1 1625064,2313283,2313284,2313279,734914,1625065,1331525,734913,734910,1580863,1580323,2313278,2313280,2313281,2313282,4144128,4145079,4144838,4144859,4144877,4144879,4144880,4144829,4144849,4144854,4144858,4144881,4144885,4144892,4144886,4144891,4145066,4145070,4144866,4144887,4144895,4145069,4144835,4144845,4144855,4144889,4145071,4144848,4144901,4145074,4144843,4144882,4145073,4144865,4144130,4144841,4145062,4145072,4144852,4145063,4833436,4144857,4144868,4144954,2302065,4145075 20673868,19913121,20485444,20538124,20565774,20572854,20587610,20602615,20628086,20634891,20663522,20672350,20707291,19073831,19057845,19056482,19014602,19012521,18991188,18991099,18974277,18953265,18923236,18822124,18814847,18809573,18806884,18794727,18772174,18764935,18752143,18676680,18663623,18660489,18623111,18603063,18580062,18579652,18579320,18568290,18550016,18489822,18484695,18463805,18447854,18442814,18441204,18436890,18411415,18401297,18398338,18395679,18379872,18378042,18346810,18326921,2649896,10770212,8982507,1725334,1917960,12379507,16820593,9696419,17078114,12847114,8999856,9492062,10393673,9422810,19640695,19634784,19536618,19520754,19520685,19479828,19475602,19446279,19420105,19416273,19415232,19369451,19367425,19358249,19336370,19264973,19258923,19254215,19247692,19225824,19171135,19150882,19103606,19086263,19086031,19077312,19074885,14636060,14634722,14602502,14587645,14578413,14574404,14558091,14523636,14519635,14514737,13680553,12972292,12963677,12941866,12907686,12887757,12861161,12855940,12750312,12746758,12721154,12695528,12657945,12629276,12620701,12588850,12565798,12557940,12529269,12511547,12508654,12477932,12459174,12446192,12230494,12189238,12151765,12144123,12137974,12117726,12107733,12087564,12082592,12077518,12068797,12013496,12011762,12009599,11991733,11991554,11934840,11932487,11866544,11858185,11831453,11795667,11751711,11742499,11693192,11601839,11593097,11448123,11410113,11399938,11210078,11179511,10620363,10438732,10391210,10334806,10231710,10220569,9595387,9324057,9284755,9257865,8889548,8450044,8144511,8125160,7773179,7664037,3282927,2678110,2670930,2659594,2201681,2018043,2005113,1864385,18260253,18212505,18080871,18063846,18050250,18031458,18025413,18023202,18005077,17996929,17969585,17967707,17960156,17938376,17913962,17893002,17884295,17875064,17855483,17850909,17703412,17701914,17693542,17681742,17664854,17664075,17576235,17575543,17569300,17556493,17549358,17535295,17525706,17505299,17497362,17497041,17497038,17470272,17460393,17444275,17438153,17404040,17395629,17357073,17353514,17345061,17340622,17335511,17328840,17291632,17274718,17264805,17222082,17221318,17203161,17148661,17123690,17122448,17020466,17016617,17016610,16986361,16982943,16971893,16956834,16947775,16943682,16931893,16864942,16815566,16809784,16778329,16769575,16720059,16713569,16648553,16597412,16582543,16531800,16526196,16521405,16466695,16452160,16357176,16336267,16320159,16291872,16234608,16217751,16098041,16097909,16095497,16076689,16026642,16021085,16002759,15988412,15979050,15946919,15946241,15864745,15838370,15838369,15838368,15838357,15838351,15838344,15838340,15838337,15838336,15838334,15838333,15838328,15838323,15838299,15838269,15818445,15817494,15743480,15702240,15699938,15652492,15646831,15643502,15623376,15621731,15610525,15568807,15558022,15518541,15505112,15489334,15466627,15369130,15347673,15319532,15269821,15240857,15224360,15213100,15198485,15194301,15188945,15161426,15139053,15126915,15093707,15073116,15047866,15044479,15041798,15009217,14769714,14763917,14736087,14735061,14733410,14692644,14685288,14660616,14639018,1736987,1713452,1515112,1422154,1280264,17197385,15481145,8482849,9453574,16169070,20562228,20634595,20873151,21214096,20437399,20538960,20952631,20952681,20685405,18288492,1859417,16754659,15691296,18390205,18945274,19046960,19116719,19170196,19188658,19188660,19212702,19217622,19371341,19391127,19460784,19526396,19527488,19543207,19558538,19564455,19578796,19592490,19625176,19626996,19661472,19672034,19687345,19692168,19717811,19729965,19730395,19764340,19808370,19887561,19899414,19907721,19927348,19948975,19996987,20015663,20028935,20031624,20051644,20055532,20082271,20083228,20083432,20091488,20204072,20217138,20308035,20339975,20346360,20416077,20452482,20497976,20503287,20537417,20016521,20055806,20150570,20188614,20368210,20452970,20495015,20837906,20664700,20559285,20725135,20725137,20725140,20725141,20725143,20728421,20971496,21059990 1625064,2313283,2313284,2313279,734914,1625065,1331525,734913,734910,1580323,2313278,2313280,2313281,2313282,4144128,4145079,4144838,4144859,4144877,4144879,4144880,4144829,4144849,4144854,4144858,4144881,4144885,4144892,4144886,4144891,4145066,4145070,4144866,4144887,4144895,4145069,4144835,4144845,4144855,4144889,4145071,4144848,4144901,4145074,4144843,4144882,4145073,4144865,4144130,4144841,4145062,4145072,4144852,4145063,4833436,4144857,4144868,4144954,2302065,4145075 1906 NM_001955,AY434104,CH471087,J05008,M25380,M25549,Z98050,AK226096,AK291838,AK307089,AK313914,BC009720,BC036851,BG540968,BM680754,CA306604,CR541903,CR591383,CR602522,CR605456,S56805,Y00749,AL548191,AW044634,BQ009676,BX439515,NG_016196,NM_001168319 NP_001946,AAQ96600,EAW55313,EAW55314,EAW55315,EAW55316,AAA52339,AAA52407,AAA52338,CAB10846,BAF84527,AAH09720,CAG46701,AAB25760,CAA68718,P05305,Q6FH53,ABM81907,ABM85081,NP_001161791 Hs.511899,Hs.713645 ET1|HDLCQ7|PPET1 endothelin-1|preproendothelin-1 protein-coding 737548 EDN2 endothelin 2 This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. [provided by RefSeq] 1580915,1580916,1580917,1580918,1580919,1580921,1580920,1625402,1580863 19913121,20628086,8982507,16754659,1713452,2649896,1917960,12207323,1652300,9696419,9492062,9422810,15691296,19527514,19336370,19019335,18818748,18037749,17997104,17445867,16879056,16714215,16493522,15619356,15489334,15059899,12516960,12477932,12184531,11187978,10976780,10750028,10494802,10489105,10438732,9826183,9675146,9588179,9284755,9164966,8821821,8697704,8671207,8345469,8323558,7509960,7509938,2201681,2018043,1840558,1816758,1725387,1725334,1701397,1446139,1345052,9085198,19527488,20028935,20140262 1580915,1580916,1580917,1580918,1580919,1580921,1580920,1625402 1907 NM_001956,AL445933,AY518541,CH471059,M25550,BC034393,BI761655,M65199,S63833,S63834,S63835,S63836,S63837,S63838,X55177 NP_001947,CAI14535,AAR89914,EAX07175,AAA52340,AAH34393,AAA52404,CAA38962,P20800 Hs.1407 ET2|PPET2 ET-2|endothelin-2|preproendothelin 2|preproendothelin-2 protein-coding 1344952 EDN3 endothelin 3 The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed. [provided by RefSeq] 1601001,1601002,1601003,1580863 19913121,20628086,1917960,1889823,1464662,9696419,8630502,15691296,19183406,18832450,18722093,18346402,17554617,17009072,16423827,15489334,14669347,12477932,12189494,11982704,11780052,11303518,11106284,10884419,10438732,10231870,9359047,9359036,9284755,9257865,8696331,8632985,8630503,8001160,7881755,2509452,2226872,2178974,2018043,1610811,17207965,20538960,1713452,2649896,10770212,8982507,8298278,19430479,19527488,19556619,19764030,20009762,20028935,20495744,18577758,16754659 1601001,1601002,1601003 1908 NM_207032,NM_207034,NM_000114,NM_207033,NG_008050,AL035250,AY444503,CH471077,M25551,BC008876,BC053866,BT007085,DQ096281,J05081,S50864,X52001 ADQ31587,NP_996915,NP_996917,NP_000105,NP_996916,CAB65996,CAB65997,CAB65998,AAR16083,EAW75434,EAW75435,EAW75436,EAW75437,AAA52341,AAH08876,AAH53866,AAP35748,AAZ03610,AAA52405,CAA36252,P14138,Q4FAT2,Q6LDQ8,Q7Z6D2,Q9UGT7 Hs.1408 ET3|HSCR4|MGC15067|MGC61498|WS4B ET-3|PPET3|endothelin-3|preproendothelin-3|truncated endothelin 3 protein-coding 737537 EDNRA endothelin receptor type A 1580946,1580947,1580948,1580949,1580950,1580952,1580945,1580863,734916 19913121,20485444,20628086,15838262,15713850,15489334,15213100,15187089,15139053,15073116,15047866,15041798,14729387,14636059,14616768,14519635,12875994,12768436,12629276,12595285,12544508,12477932,12082592,11982704,11930911,11601839,11382773,11376172,11262386,10789830,10770212,10448102,9211925,8440682,8427579,8114678,7882989,1719979,1659806,1652463,1415318,1291713,8611157,8702836,8982507,9284755,1849646,1326535,19593212,19558538,19479828,19367425,19247692,19225824,18756291,18678984,18660489,18326801,18212505,18172451,17706018,17616694,17616673,17575543,17525706,17470272,17468950,17437213,17353514,17203161,17198909,17122448,17016617,16984730,16971893,16962346,16947775,16879994,16816835,16648553,16618267,16582543,16567585,16531800,16344560,16208144,16149067,16002759,15988412,15851553,15838367,15838366,15838364,15838329,15838315,15838285,20150570,20538960,20964792,20401344,18577758,19217622,19460784,19575782,19578796,19626996,19653178,19898645,20028935,20034471,20043107,20083432,20100616,20346360,20725140,16754659 1580946,1580947,1580948,1580949,1580950,1580952,1580945,734916 1909 AAB24923 NM_001957,AC093908,AY422989,CH471056,D11151,S55772,AF014826,AK304451,AK312812,AK315931,AY275462,BC022511,CD723797,D90348,DA775295,L06622,S45956,S57498,S63938,S67127,S81539,S81542,S81545,X61950,BQ006584,DA183901,DA956937,NG_013343,NM_001166055,NR_028596 ABM83255,ABM86458,P25101,NP_001948,AAQ87880,EAX05017,EAX05018,EAX05019,EAX05020,EAX05021,BAA01920,AAB25212,AAB94859,BAG65268,BAG35670,BAH14302,AAP32294,AAH22511,BAA14359,AAA58447,AAB23644,AAB25530,AAB20278,AAB20407,AAB36325,AAB36326,AAB36327,CAA43953,AAB24923,NP_001159527 Hs.183713 ETA|ETAR|ETRA ET-A|ETA-R|G protein-coupled receptor|OTTHUMP00000220091|OTTHUMP00000220093|endothelin A receptor|endothelin ET-A receptor|endothelin receptor subtype A|endothelin receptor, ET1-specific type|endothelin-1 receptor|endothelin-1-specific receptor|hET-AR protein-coding 736090 EDNRB endothelin receptor type B The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Three transcript variants encoding two different isoforms have been found for this gene. While both isoforms bind ET1, they exhibit different responses upon binding, suggesting that they may be functionally distinct. [provided by RefSeq] 1580945,1580946,1580948,1580949,1580951,1580952,1601006,1601008,1581890,1580863 19913121,20628086,8634719,8630503,18577758,8001160,8001158,7987295,2175394,1713452,1710450,1659806,1648908,1291713,1282938,8440682,8429023,18060649,20798208,20427706,20595785,9556633,12207323,8982507,8810293,19320733,19148482,19136571,19040731,18778461,18758497,18756291,18660489,18564167,18551992,18535108,18411415,18310504,18187958,18162831,18157142,17855483,17618893,17616673,17611649,17554617,17535295,17525706,17470272,17353514,17203161,17202412,17011274,17009072,16962346,16947775,16944573,16816835,16567585,16531800,16145050,16002759,15988412,15950764,15838285,15838263,15598844,15489334,15350137,15213100,15073116,14729387,14669347,14636059,14519635,12972292,12875994,12694195,12629276,12628594,12544508,12477932,12439722,12355085,12226103,12189494,12135322,12117726,11982704,11930911,11920632,11891690,11854280,11829485,11601839,11565556,11471546,11376172,10789830,10528251,10510297,10090908,10072757,9760196,9359036,9284755,9261180,9211925,8852660,8852659,8852658,16328051,19536618,19558538,19661472,19706169,19757321,19853744,20009762,20028935,20034471,20043107,20108069,20346360,20495744,20162572,21116278,20401344,16754659 1580945,1580946,1580948,1580949,1580951,1580952,1601006,1601008,1581890 1910 AAB24922 NM_001201397,H28710,L06623,M74921,S44866,S57283,X99250,NM_003991,NM_000115,NG_011630,AJ458188,AJ458189,AJ458190,AJ458191,AL139002,AY547312,CH471093,D13168,AB209198,AF114165,AK290699,AY275463,BC014472,CR605578,CR608540,CR611011,CR613068,CR623558,D90402,NM_001122659 NP_001188326,AAA52342,AAA58465,AAB19411,AAB25531,CAA67623,AAB24922,P24530,NP_001116131,NP_003982,NP_000106,CAD30645,CAD30646,CAD30647,CAD30648,CAH72430,CAM16893,AAS38516,EAW80573,EAW80574,EAW80575,EAW80576,EAW80577,EAW80578,BAA02445,BAD92435,AAD24541,BAF83388,AAP32295,AAH14472,BAA14398 Hs.82002 ABCDS|ETB|ETBR|ETRB|HSCR|HSCR2|WS4A ET-B|ET-BR|endothelin B receptor|endothelin receptor non-selective type protein-coding 1320911 EEA1 early endosome antigen 1 1580863 15052657,14600265,12963735,12493736,12477932,12271471,11870209,11230696,11226253,10903204,10807926,10506127,10458612,10394369,10024533,18632619,11718716,11493665,15782196,15342556,20534488,10491193,11741531,11256955,7768953,9697774,17146146,17113235,16448788,16331966,15451443,12536145,14613930,15229288,15792797,15880641,16138080,16542649,20133936 8411 NM_003566,AC016136,AC021646,AC026111,CH471054,AF173389,AK292008,AK307918,BC017837,BF515615,BP228986,BX648463,L40157,X78998 NP_003557,EAW97471,EAW97472,AAQ13630,BAF84697,AAH17837,AAA79121,CAA55632,Q05D76,Q15075,Q7Z4D4,AAI56546,AAI72504 Hs.567367 MST105|MSTP105|ZFYVE2 early endosome antigen 1|early endosome antigen 1, 162kD|early endosome antigen 1, 162kd|early endosome-associated protein|endosome-associated protein p162|zinc finger FYVE domain-containing protein 2 protein-coding 1344943 EEC1 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 1424230 1913 1347602 EEC2 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 9443880 1914 1320306 EED embryonic ectoderm development This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 17210640,15882624,17041588,18931660,19767730,17560333,11124122,9584199,18302803,17804093,17547741,16357870,15385962,15225548,14759364,14610174,12943661,12788942,12477932,12435631,11158321,10581039,9880543,9806832,9765275,9742080,9584197,16075307,15875659,15638726,9566901,19578722,19026780,19026781,20974918 8726 NM_152991,NM_003797,AP003084,CH471076,AF070418,AF078933,AF080227,AF099032,AI378297,AK292120,AK294133,AK301265,AL546955,BC047672,BC068995,CR616231,CR616258,U90651 NP_694536,NP_003788,EAW75129,EAW75130,EAW75131,AAC23685,AAC68675,AAC95144,AAD08815,BAF84809,BAG57461,BAG62829,AAH47672,AAH68995,AAD08714,O75530,ABZ92272 Hs.503510 HEED|WAIT1 WD protein associating with integrin cytoplasmic tails 1|polycomb protein EED protein-coding 68966 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq] 19486527,20211142,3512269,15231747,16828757,17373842,18000879,15189156,8812466,10368288,2564392,19487283,19464723,19158340,19026636,18853312,18820646,18688046,18459963,18448518,18331827,18263879,18221514,18079119,17998013,17825975,17719568,17640892,17595531,17332776,16916647,16689924,16583711,16354621,16289162,16169070,15952740,15862967,15835887,15716006,15695360,15635413,15592455,15489334,15383276,15324660,15231748,15109557,14996095,14702039,14623968,12840015,12594214,12477932,12426393,12426392,12354112,11886851,11854414,11829477,11690632,11689615,11672422,10941842,10851272,10364286,10094407,9852145,9465091,9407120,9373149,9310071,8743958,8626763,8125298,7890750,7806521,7542776,6568109,3960725,3570288,3346208,3169261,2569467,2556394,2183196,20716364,19321449,15107835,17707232,19394292,19454010,17124247,17361185,19471103,19478083,19559761,19636410,20030628,20099848,20832312 1915 HC250971,HC311160,AK223046,AK289374,AK289442,AK290691,AK292639,AK297878,AK300922,AK304214,AK315827,AY043301,AY062434,BC008587,BC009733,BC009875,BC010735,BC012509,BC012891,BC014224,BC014377,BC014892,BC018150,BC018641,BC018850,CR592934,CR593098,CR593234,CR593243,CR593256,CR593260,CR593301,CR593333,CR593370,CR593378,CR593381,CR593391,CR593404,CR593476,CR593507,CR593550,CR593552,CR593668,CR593717,CR593719,CR593746,CR593748,CR593781,CR593852,CR593902,CR593922,CR593953,CR593975,CR594086,CR594167,CR594205,CR594261,CR594293,CR594336,CR594392,CR594494,CR594579,CR594598,CR594612,CR594664,CR594666,CR594681,CR594724,CR594727,CR594728,CR594731,CR594756,CR594859,CR594861,CR594927,CR594930,CR594936,CR594960,CR594977,CR595004,CR595015,CR595018,CR595113,CR595126,CR595165,CR595243,CR595294,CR595337,CR595387,CR595407,CR595505,CR595533,CR595549,CR595554,CR595629,CR595655,CR595702,CR595753,CR595789,CR595792,CR595793,CR595800,CR595803,CR595809,CR595872,CR595880,CR595939,CR596133,CR596136,CR596219,CR596281,CR596291,CR596406,CR596435,CR596437,CR596516,CR596534,CR596549,CR596574,CR596576,CR596579,CR596665,CR595285,CR596732,CR596769,CR596775,CR596862,CR596864,CR596931,CR597006,CR597021,CR597171,CR597218,CR597264,CR597285,CR597290,CR597300,CR597414,CR597419,CR597446,CR597453,CR597513,CR597538,CR597565,CR597575,CR597675,CR597765,CR597863,CR598068,CR598069,CR598223,CR598268,CR598277,CR598325,CR598371,CR598392,CR598396,CR598432,CR598473,CR598508,CR598550,CR598600,CR598631,CR598641,CR598683,CR598686,CR598687,CR590365,CR590392,CR590401,CR590407,CR590432,CR590540,CR590659,CR590677,CR590709,CR590733,CR590788,CR590838,CR590948,CR590970,CR591030,CR591031,CR591058,CR591063,CR591100,CR591105,CR591177,CR591227,CR591299,CR591412,CR591427,CR591440,CR591463,CR591491,CR591500,CR591510,CR591519,CR591534,CR591544,CR591605,CR591657,CR591766,CR591864,CR591874,CR591929,CR592032,CR592196,CR592246,CR592253,CR592261,CR592265,CR592337,CR592380,CR592406,CR592422,CR592507,CR592512,CR592514,CR592584,CR592640,CR592686,CR592691,CR592703,CR592772,CR592903,CR590363,BC019050,BC019669,BC020477,BC021686,BC022412,BC028674,BC029337,BC029343,BC029997,BC035877,BC038339,BC057391,BC063511,BC065761,BC066893,BC066894,BC070131,BC070500,BC071619,BC071727,BC071741,BC071841,BC072385,BC082268,BC094687,BC111051,CR589997,CR590026,CR590027,CR590028,CR590074,CR590076,CR590121,CR590136,CR590346,CR590352,CR598700,CR598785,CR598882,CR598901,CR598916,CR598928,CR598950,CR599024,CR599128,CR599149,CR599211,CR599239,CR599250,CR599305,CR599384,CR599412,CR599475,CR599540,CR599680,CR599686,CR599709,CR599729,CR599777,CR599818,CR599857,CR599860,CR599887,CR599945,CR599946,CR599957,CR599991,CR600052,CR600053,CR600378,CR600395,CR600433,CR600447,CR600521,CR600530,CR600531,CR600550,CR600552,CR600591,CR600616,CR600672,CR600924,CR600991,CR601023,CR601033,CR601054,CR601168,CR601238,CR601250,CR601273,CR601439,CR601469,CR601505,CR601574,CR601606,CR601910,CR601985,CR602061,CR602084,CR602209,CR602226,CR602266,CR602278,CR602340,CR602376,CR602401,CR602410,CR602421,CR602448,CR602456,CR602467,CR602475,CR602503,CR602523,CR602538,CR602557,CR602566,CR602582,CR621590,CR621597,CR621604,CR621651,CR621775,CR621903,CR621910,CR621933,CR621964,CR622030,CR622043,CR622074,CR622147,CR622148,CR622149,CR622163,CR622173,CR622232,CR622293,CR622316,CR622326,CR622360,CR622389,CR622394,CR622421,CR622450,CR622504,CR622511,CR622542,CR622606,CR622628,CR622654,CR622753,CR622815,CR622838,CR622840,CR622852,CR622859,CR622899,CR623011,CR623017,CR623035,CR623085,CR623097,CR623099,CR623199,CR623212,CR623309,CR623409,CR623425,CR623436,CR623444,CR623463,CR623517,CR623541,CR623654,CR623656,CR623717,CR623735,CR623777,CR623796,CR623825,CR623870,CR623925,CR624039,CR624058,CR624066,CR624120,CR624162,CR624188,CR624262,CR624279,CR624323,CR624327,CR624457,CR624516,CR624526,CR624538,CR624630,CR624631,CR624727,CR624737,CR624753,CR624776,CR624777,CR624792,CR624834,CR624857,CR624859,CR624869,CR625000,CR625023,CR625083,CR625085,CR625168,CR625179,CR625246,CR625250,CR625302,CR625305,CR625353,CR625378,CR625479,CR625529,CR625564,CR625624,CR625682,CR625708,CR625709,CR625724,CR625791,CR625841,CR625872,CR625921,CR625936,CR625950,CR625956,CR625959,CR625960,CR626070,CR626116,CR626123,CR626129,CR626139,CR626191,CR626193,CR626240,CR626273,CR626288,CR626378,CR626402,CR626429,CR626437,CR626496,CR626524,CR626551,CR626575,CR626603,CR626649,CR626694,CR626735,CR626770,DQ185041,DQ867534,EF362804,M27364,M29548,X03558,X03689,X16869,AL603910,CH471051,J04617,AF174496,AF211972,AF328730,AF397403,AJ420488,AK024888,AK026650,AK055058,AK058051,AK058082,AK058163,AK098510,AK098518,AK098587,AK098623,AK127384,AK222515,AK222519,AK222523,AK222551,AK222982,AK223030,AK223042,NM_001402,CR602664,CR605722,CR605796,CR605857,CR605892,CR606120,CR606125,CR606176,CR606195,CR606294,CR606367,CR606368,CR606424,CR606442,CR606446,CR606508,CR606528,CR606545,CR606574,CR606582,CR606707,CR606729,CR606744,CR606779,CR606780,CR606781,CR606791,CR606846,CR606931,CR606933,CR606943,CR606985,CR607022,CR607024,CR607038,CR607063,CR607066,CR607112,CR607123,CR607175,CR607177,CR607264,CR607359,CR607432,CR607663,CR607669,CR607670,CR607722,CR617730,CR617739,CR617773,CR617777,CR617780,CR617805,CR617815,CR617816,CR617819,CR617947,CR617969,CR617971,CR617976,CR617982,CR618019,CR618138,CR618143,CR618155,CR618170,CR618235,CR618256,CR618335,CR618342,CR618427,CR618461,CR618475,CR618511,CR618533,CR618534,CR618646,CR618656,CR618693,CR618710,CR618776,CR618780,CR618799,CR618854,CR618968,CR618979,CR618996,CR619010,CR619055,CR619106,CR619135,CR619142,CR619212,CR619254,CR619258,CR619275,CR619356,CR619358,CR619438,CR619442,CR619446,CR619452,CR619453,CR619464,CR619474,CR619519,CR619570,CR619590,CR619661,CR619671,CR619717,CR619735,CR619892,CR619907,CR620117,CR620120,CR620284,CR620308,CR620333,CR620345,CR620386,CR620469,CR620512,CR620552,CR620714,CR620716,CR620718,CR620741,CR620743,CR620758,CR620915,CR620948,CR620971,CR621027,CR621044,CR621098,CR621104,CR621126,CR621185,CR621202,CR621257,CR621418,CR621463,CR621480,CR621482,CR621539,CR607738,CR607784,CR608014,CR608040,CR608065,CR608103,CR608178,CR608237,CR608239,CR608251,CR608355,CR608362,CR608408,CR608504,CR608566,CR608594,CR608600,CR608671,CR608711,CR608737,CR608799,CR608800,CR608845,CR608880,CR608881,CR608883,CR608909,CR608952,CR609004,CR609034,CR609061,CR609264,CR609280,CR609287,CR609294,CR609309,CR609311,CR609353,CR609412,CR609452,CR609475,CR609506,CR609639,CR609660,CR609710,CR609851,CR609888,CR609917,CR609922,CR609969,CR609972,CR610031,CR610058,CR610064,CR610076,CR610077,CR610103,CR610117,CR610171,CR610218,CR610228,CR610229,CR610244,CR610323,CR610407,CR610420,CR610434,CR610436,CR610526,CR610541,CR610543,CR610545,CR610587,CR610593,CR610594,CR610596,CR610671,CR610709,CR610725,CR610774,CR610777,CR610809,CR610896,CR611052,CR611093,CR611114,CR611142,CR611185,CR611243,CR611245,CR611262,CR611304,CR611318,CR611331,CR611335,CR611367,CR611396,CR611419,CR611444,CR611491,CR611509,CR611533,CR611598,CR611652,CR611675,CR611678,CR611684,CR611768,CR611854,CR611904,CR611941,CR611987,CR612263,CR612294,CR612295,CR612402,CR612550,CR612574,CR612667,CR612674,CR612676,CR612695,CR612718,CR612780,CR612835,CR612836,CR612871,CR612919,CR612943,CR612953,CR613001,CR613015,CR613030,CR613041,CR613071,CR613082,CR613102,CR613157,CR613220,CR613222,CR613223,CR613226,CR613230,CR613238,CR613275,CR613378,CR613423,CR613440,CR613443,CR613462,CR613514,CR613522,CR613539,CR613543,CR613591,CR613645,CR613716,CR613759,CR613777,CR613781,CR613928,CR613930,CR614017,CR614027,CR614034,CR614047,CR614121,CR614124,CR614152,CR614203,CR614255,CR614341,CR614479,CR614488,CR614511,CR614543,CR614559,CR614601,CR614602,CR614695,CR614712,CR614761,CR614776,CR614800,CR614812,CR614905,CR614944,CR614995,CR615002,CR615109,CR615204,CR615290,CR615294,CR615399,CR615411,CR615553,CR615592,CR602671,CR602680,CR602706,CR602715,CR602721,CR602733,CR602772,CR602798,CR602811,CR602826,CR602861,CR602968,CR602993,CR603053,CR603057,CR603064,CR603088,CR603089,CR603227,CR603261,CR603355,CR603371,CR603518,CR603565,CR603608,CR603637,CR603651,CR603696,CR603749,CR603802,CR603806,CR603826,CR603828,CR603848,CR603888,CR603890,CR603996,CR604053,CR604113,CR604172,CR604179,CR604181,CR604230,CR604241,CR604300,CR604325,CR604350,CR604392,CR604465,CR604470,CR604487,CR604553,CR604566,CR604567,CR604670,CR604684,CR604777,CR604780,CR604846,CR604941,CR604954,CR604983,CR605017,CR605055,CR605108,CR605210,CR605359,CR605368,CR605403,CR605416,CR605428,CR605447,CR605466,CR605681,CR605707,CR605721,CR607737,CR615611,CR615629,CR615717,CR615756,CR615760,CR615777,CR615800,CR615827,CR615902,CR615905,CR616004,CR616070,CR616130,CR616145,CR616178,CR616180,CR616186,CR616200,CR616255,CR616394,CR616465,CR616526,CR616654,CR616683,CR616695,CR616704,CR616706,CR616763,CR616769,CR616795,CR616796,CR616814,CR616819,CR616822,CR616837,CR616882,CR616916,CR616923,CR616927,CR616932,CR616936,CR616970,CR617038,CR617053,CR617075,CR617079,CR617124,CR617291,CR617336,CR617353,CR617435,CR617466,CR617574,CR617584,CR617606,CR617613,CR603959 CBJ05783,CBJ21235,BAD96766,BAF82063,BAF82131,BAF83380,BAF85328,BAG60202,BAG62554,BAG65087,BAF98718,AAK95378,AAL38981,AAH08587,AAH09733,AAH09875,AAH10735,AAH12509,AAH12891,AAH14224,AAH14377,AAH14892,AAH18150,AAH18641,BAD96762,AAH21686,AAH22412,AAH28674,AAH38339,AAH57391,AAH63511,AAH65761,AAH66893,AAH70131,AAH70500,AAH71619,AAH71727,AAH71741,AAH71841,AAH72385,AAH82268,AAH94687,AAI11052,ABM82376,ABM85555,ABD14421,ABI74620,ABO30531,AAA52344,AAA52367,CAA27245,CAA27325,CAA34756,P68104,Q14222,Q16577,Q2F837,Q504Z0,Q53G85,Q53G89,Q53GA1,Q53GE9,Q53HM9,Q53HQ7,Q53HR1,Q53HR5,Q5JR01,Q6IPN6,Q6IPS9,Q6IPT9,Q6IQ15,Q6NS35,Q6NSH7,Q6P082,Q6P4C9,Q8IUB0,Q8TBL1,Q96C29,Q96CD8,Q96EB3,Q96RE1,Q9H2I7,Q9NZS6,NP_001393,CAI14883,CAI40951,EAW48759,AAA52343,AAF36537,AAN09722,AAK93966,BAG51457,BAG54498,BAD96235,BAD96239,BAD96243,BAD96271,BAD96702,BAD96750 Hs.586423,Hs.713109,Hs.695681,Hs.727481,Hs.535192,Hs.708256 CCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|FLJ25721|GRAF-1EF|HNGC:16303|LENG7|MGC102687|MGC131894|MGC16224|PTI1|eEF1A-1 CTCL tumor antigen|EF-1-alpha-1|EF1a-like protein|cervical cancer suppressor 3|elongation factor 1 alpha subunit|elongation factor 1-alpha 1|elongation factor Tu|eukaryotic elongation factor 1 A-1|eukaryotic translation elongation factor 1 alpha 1-like 14|glucocorticoid receptor AF-1 specific elongation factor|leukocyte receptor cluster (LRC) member 7|leukocyte receptor cluster member 7|prostate tumor-inducing protein 1|translation elongation factor 1 alpha 1-like 14 protein-coding 1352976 EEF1A1P eukaryotic translation elongation factor 1 alpha 1 pseudogene 10830953 54054 NG_000926,AP000459 EEF1A1P pseudo 2923686 EEF1A1P16 eukaryotic translation elongation factor 1 alpha 1 pseudogene 16 387845 AC023512,NG_022950 pseudo 2947544 EEF1A1P17 eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 401717 AC090525,NG_022965 pseudo 2837467 EEF1A1P19 eukaryotic translation elongation factor 1 alpha 1 pseudogene 19 100421796 AC114956,NG_021847 pseudo 1344814 EEF1A1P2 eukaryotic translation elongation factor 1 alpha 1 pseudogene 2 319112 NG_002494,AL160192 pseudo 2837388 EEF1A1P20 eukaryotic translation elongation factor 1 alpha 1 pseudogene 20 100421797 AC113407,NG_021893 pseudo 2816292 EEF1A1P21 eukaryotic translation elongation factor 1 alpha 1 pseudogene 21 100421807 AC109351,NG_022054 pseudo 3231962 EEF1A1P22 eukaryotic translation elongation factor 1 alpha 1 pseudogene 22 645693 AC025041,NG_022970 pseudo 2816291 EEF1A1P23 eukaryotic translation elongation factor 1 alpha 1 pseudogene 23 100421815 AC048351,NG_022235 pseudo 3207652 EEF1A1P24 eukaryotic translation elongation factor 1 alpha 1 pseudogene 24 645715 AC104850,NG_022246 pseudo 2974930 EEF1A1P25 eukaryotic translation elongation factor 1 alpha 1 pseudogene 25 646612 AC067728,NG_022276 pseudo 3436169 EEF1A1P26 eukaryotic translation elongation factor 1 alpha 1 pseudogene 26 100128637 AC005039,CH236948,NG_022551 pseudo 3077627 EEF1A1P27 eukaryotic translation elongation factor 1 alpha 1 pseudogene 27 100130234 AC003091,AC007095,NG_022552,CH236948 pseudo 3207701 EEF1A1P28 eukaryotic translation elongation factor 1 alpha 1 pseudogene 28 442709 AC006988,CH236949,NG_009429 pseudo 3077628 EEF1A1P29 eukaryotic translation elongation factor 1 alpha 1 pseudogene 29 100130211 AL109752,NG_009085 pseudo 2802588 EEF1A1P30 eukaryotic translation elongation factor 1 alpha 1 pseudogene 30 402420 AC002086,NG_023023 pseudo 3399027 EEF1A1P31 eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 553820 BX842559,NG_005114 pseudo 3077670 EEF1A1P32 eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 730232 AL365258,NG_022987 pseudo 3184771 EEF1A1P33 eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 390352 AC007564,NG_021698 pseudo 3398758 EEF1A1P34 eukaryotic translation elongation factor 1 alpha 1 pseudogene 34 100132358 AL035563,NG_021977 pseudo 3418726 EEF1A1P35 eukaryotic translation elongation factor 1 alpha 1 pseudogene 35 389223 AC104619,NG_022081 pseudo 2816171 EEF1A1P36 eukaryotic translation elongation factor 1 alpha 1 pseudogene 36 100421820 AL023578,NG_022371 pseudo 2816309 EEF1A1P37 eukaryotic translation elongation factor 1 alpha 1 pseudogene 37 100421825 AP002980,NG_022431 pseudo 3235149 EEF1A1P38 eukaryotic translation elongation factor 1 alpha 1 pseudogene 38 124199 AC092725,NG_022963 pseudo 1344342 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2303420,1580863 20505761,17353931,19138673,18474610,17908984,17825975,17437010,17130842,17088255,16369491,16156888,15952740,15893736,15635413,15592455,15489334,14702039,14588074,12477932,12053177,12048193,11780052,10950927,8812466,8626763,8354261,7945283,812466,18322813,18978249,19636410,19723040,19966453,3902853,3968178,20819441,20864512 2303420 1917 CR600141,CR602821,CR604699,CR608520,CR613690,CR614088,CR616067,CR621513,CR622432,CR626229,CR626526,L10340,X70940,AF163763,AL121829,CH471077,AB209064,AB451389,AK123690,AK307536,BC000432,BC018855,BC110409,CR589974,CR592792,CR593279,CR597004,CR597303,NM_001958 AAA91835,CAA50280,Q05639,Q59GP5,ABM85496,NP_001949,AAF80488,CAC15522,EAW75259,EAW75260,BAD92301,BAG70203,AAH00432,AAI10410 Hs.433839 EEF1AL|EF-1-alpha-2|EF1A|FLJ41696|HS1|STN|STNL OTTHUMP00000031776|eEF1A-2|elongation factor 1-alpha 2|elongation factor-1 alpha|eukaryotic elongation factor 1 A-2|statin S1|statin-S1|statin-like protein-coding 1353677 EEF1A3 eukaryotic translation elongation factor 1 alpha 3 1918 1344884 EEF1AL1 eukaryotic translation elongation factor 1 alpha-like 1 8812466 1919 1344455 EEF1AL10 eukaryotic translation elongation factor 1 alpha-like 10 8812466,8812466 1928,644604 AC096663,NG_016738 EEF1AL10 pseudo 1605294 EEF1AL11 eukaryotic translation elongation factor 1 alpha-like 11 10343093,8812466 133283 NG_002349,AC010491,AC010627 EEF1AL11 pseudo 1345794 EEF1AL12 eukaryotic translation elongation factor 1 alpha-like 12 pseudogene 8812466 647167 NG_008758,AL356272,AL591171 EEF1AL12 pseudo 1343801 EEF1AL13 eukaryotic translation elongation factor 1 alpha-like 13 8812466,8812466 1931,643563 AL357312,NG_016768 EEF1AL13 pseudo 1354117 EEF1AL2 eukaryotic translation elongation factor 1 alpha-like 2 8812466 1920 1349840 EEF1AL3 eukaryotic translation elongation factor 1 alpha-like 3 8812466 158078 NG_002350,AL593851 Q5VTE0 EEF1AL3 pseudo 1347390 EEF1AL4 eukaryotic translation elongation factor 1 alpha-like 4 8812466 221838 NG_002353,AC002480,CH236948 EEF1AL4 pseudo 1352171 EEF1AL5 eukaryotic translation elongation factor 1 alpha-like 5 pseudogene 8812466 390924 NG_008815,AC002511 EEF1AL5 pseudo 1349405 EEF1AL6 eukaryotic translation elongation factor 1 alpha-like 6 pseudogene 8812466 389179 NG_006547,AC068644 EEF1AL6 pseudo 1351166 EEF1AL7 eukaryotic translation elongation factor 1 alpha-like 7 8812466 441032 NR_003586,AC004066,CR608034,CR612101 Hs.512059 EEF1AL7 pseudo 1342768 EEF1AL8 eukaryotic translation elongation factor 1 alpha-like 8 8812466 1926 1345248 EEF1AL9 eukaryotic translation elongation factor 1 alpha-like 9 pseudogene 8812466 440595 NG_008817,AC092393 EEF1AL9 pseudo 1605437 EEF1B1 eukaryotic translation elongation factor 1 beta 1 11597139,1710449 1932 NG_003045,AC025917 EF1B pseudo 1322866 EEF1B2 eukaryotic translation elongation factor 1 beta 2 This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq] 1580863 16169070,17353931,1886777,15189156,10368288,19487283,17081983,16341674,16189514,15815621,15489334,15345747,15341733,15302935,14729942,14623968,12477932,11829477,11597139,10094407,9407120,8743958,8573604,8547318,8250921,3169261,2556394,1286669,1286667,1710449,14519448 1933 X60656,NM_001037663,NM_021121,AC007383,CH471063,AK291910,AK310096,BC000211,BC004931,BC029316,BC067787,BF669470,BM747256,BT007079,BU565415,BU627453,CR456825,CR596342,CR605644,CR612393,CR626082,CR626685,S81522,X60489,NM_001959 CAA43063,P24534,NP_001950,NP_001032752,NP_066944,AAY15062,EAW70381,EAW70382,BAF84599,AAH00211,AAH04931,AAH67787,AAP35742,CAG33106,CAA43019 Hs.421608 EEF1B|EEF1B1|EF1B EF-1-beta|OTTHUMP00000206336|elongation factor 1-beta|eukaryotic translation elongation factor 1 beta 1 protein-coding 1349270 EEF1B3 eukaryotic translation elongation factor 1 beta 3 12920118,8250921 1934 NG_003038,AC104120,L26404 BETA-3|EEF-1|EEF-1BETA5A|EEF1B pseudo 1345659 EEF1B4 eukaryotic translation elongation factor 1 beta 4 11181995,8250921 644820 NG_008008,AC079375,CH471074 EAW99030 pseudo 1323465 EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit functions as guanine nucleotide exchange factor. It is reported that this subunit interacts with HIV-1 Tat, and thus it represses the translation of host-cell, but not HIV-1, mRNAs. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq] 1580863 15062873,14702039,14623968,12975309,12773547,12551973,12477932,12210501,11829477,10567582,10094407,9677419,9610721,9568107,9514931,9407120,9373149,9353277,8743958,8294461,8125298,8051108,3169261,2556394,2207149,2061327,17353931,12761501,15189156,10368288,8334168,17997862,17081983,16968546,16807684,16189514,16169070,16097034,15489334,15199388,15146197,16341674,16344560,8889548,15604093,15867431,20514991 1936 NM_001130056,NM_001960,NM_032378,NM_001130053,NM_001130055,NM_001130057,AC067930,BC071840,BC094806,BI667117,BT007242,CN424083,CN424105,CR597518,CR602809,CR612725,CR617003,CR626284,CX787126,Z21507,BQ686171,CH471162,BC062535,AF370363,AK024550,AK093756,AK225040,AK225243,AK225270,AK293339,AK314311,AL833379,AY358690,BC000678,BC007847,BC009907,BC012819,BC046445,AI366989,BG748894,BQ064320,BQ083927,CF128478,DA948687,DA977213,NM_001195203 NP_001123528,NP_001951,NP_115754,NP_001123525,NP_001123527,NP_001123529,AAH62535,AAH94806,AAP35906,CAA79716,P29692,Q4VBZ6,Q9BW34,Q9H7G6,EAW82227,EAW82228,EAW82229,EAW82230,EAW82231,EAW82232,EAW82233,EAW82234,EAW82235,AAQ15199,BAB14925,BAG56855,BAG36963,AAQ89053,AAH00678,AAH07847,AAH09907,AAH12819,NP_001182132 Hs.333388,Hs.686554 EF-1D|EF1D|FLJ20897|FP1047 EF-1-delta|antigen NY-CO-4|elongation factor 1-delta|guanine nucleotide exchange protein protein-coding 1626259 EEF1DP1 eukaryotic translation elongation factor 1 delta pseudogene 1 11181995 126037 NG_006512,AC022098,CH471106 EAW84392 pseudo 1626262 EEF1DP2 eukaryotic translation elongation factor 1 delta pseudogene 2 442429 NG_006527,AL136981 KIAA0699 pseudo 1606432 EEF1DP3 eukaryotic translation elongation factor 1 delta pseudogene 3 16344560,16189514,12477932 196549 NR_027062,AC002525,AL138708,CH471075,AL833768,BC021729,BC125059,BC125060,DA657873 EAX08486,CAH56242 Hs.507667 MGC149669|MGC149670 pseudo 1626263 EEF1DP4 eukaryotic translation elongation factor 1 delta pseudogene 4 9847074 442325 NG_006526,AC073349 FLJ26697 pseudo 1626265 EEF1DP5 eukaryotic translation elongation factor 1 delta pseudogene 5 442258 NG_006525,AL080315 pseudo 1322308 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 This gene encodes a multifunctional protein that localizes both in the cytoplasm and in the nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage and plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1298632,1580863 19024604,18343821,15680327,15489334,15342556,14574404,12477932,11329013,11042152,9653160,18029348,11714285,16055448,20201926,8052601,8078941,8188258,8449960,9278442 1298632 9521 NM_001135650,NM_004280,AL023694,AL355499,AL451187,CH471087,AB011079,AF054186,AI374688,AI394376,AV714140,BC005291,BG183264,BP235196,CK002875,CR619920,BT007306 NP_001129122,NP_004271,CAI21644,CAH72539,CAI14747,EAW55227,BAA24926,AAC39916,AAH05291,AAP35970,O43324,ABM84428,ABW03577 Hs.602353,Hs.726163 AIMP3|P18 ARS-interacting multifunctional protein 3|OTTHUMP00000221319|OTTHUMP00000221321|OTTHUMP00000221323|aminoacyl tRNA synthetase complex-interacting multifunctional protein 3|elongation factor p18|eukaryotic translation elongation factor 1 epsilon-1|multisynthase complex auxiliary component p18|p18 component of aminoacyl-tRNA synthetase complex protein-coding 1349957 EEF1G eukaryotic translation elongation factor 1 gamma This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq] 1580863 20029029,10908348,15189156,10368288,17719568,17220478,17081983,16189514,16169070,15635413,15489334,15383276,15324660,15231748,14702039,12840015,12766415,12690205,12665801,12477932,11829477,11504921,10094407,9407120,7703850,1598220,1461723,1372736,3169261,14519448,16548883,17215244 1937 AP001363,AP002990,CH471076,AK092787,AK129569,AK129618,AK130026,AK299876,AK300203,AK300686,AK300729,AL556034,AY542307,AY687925,BC000384,BC006509,BC006520,BC007949,BC009865,BC013918,BC015813,BC018853,BC018857,BC019051,BC021974,BC024274,NM_001404,BC031012,BC067738,BQ947806,BT006677,CR407625,CR590423,CR590671,CR591131,CR591934,CR594951,CR595222,CR596461,CR596725,CR597651,CR597680,CR598251,CR598661,CR599831,CR600927,CR601463,CR601494,CR601935,CR602729,CR603282,CR604713,CR605809,CR606680,CR609380,CR609825,CR612164,CR612182,CR615249,CR615632,CR616102,CR616112,CR617439,CR618479,CR618988,CR619081,CR619371,CR622740,CR623674,CR625451,CR626157,CR626196,DQ185034,DQ185040,M55409,BC028179,X63526,Z11531 NP_001395,EAW74023,EAW74024,EAW74025,EAW74026,EAW74027,EAW74028,BAG61726,BAG61974,BAG62369,BAG62402,AAT08176,AAH00384,AAH06509,AAH06520,AAH07949,AAH09865,AAH13918,AAH15813,AAH21974,AAH28179,AAH31012,AAH67738,AAP35323,CAG28553,ABD14418,ABD14420,AAC18414,CAA45089,CAA77630,P26641,Q2F838,Q2F840,Q53YD7,ABM82029,ABM85210 Hs.144835,Hs.444467 EF1G|GIG35 EF-1-gamma|PRO1608|eEF-1B gamma|elongation factor 1-gamma|pancreatic tumor-related protein|translation elongation factor eEF-1 gamma chain protein-coding 1343628 EEF2 eukaryotic translation elongation factor 2 This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq] 1580863 16097034,12891704,17220478,15189156,18809582,19036825,17081983,16964243,16648488,16520893,16344560,16098202,15952740,15835887,15635413,15534876,15489334,15302935,14594813,12477932,12171600,8386634,8318952,6427766,3693353,3034518,2840927,2610926,2318846,1596361,17540176,19360331,20181627,20379614 1938 AC011488,AC016586,CH471139,AK297398,AK298498,AK299225,AU118535,AY942181,BC006547,BC024689,BC126259,BC136313,NM_001961,CR596005,CR598660,CR602709,CR608809,CR616093,M19997,X51466,Z11692 AAI36314,NP_001952,EAW69274,EAW69275,BAG59838,BAG60705,BAG61260,AAX34409,AAH06547,AAH24689,AAI26260,AAA50388,CAA35829,CAA77750,P13639,Q6PK56,Q8TA90,ADR83418 Hs.515070 EEF-2|EF2 EF-2|elongation factor 2|polypeptidyl-tRNA translocase protein-coding 1351780 EEF2K eukaryotic elongation factor-2 kinase This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq] 728634,1580863 9144159,15809305,18337751,17081983,16964243,16921268,16344560,16098202,15144186,15024086,14709557,14702039,12477932,12171600,12107410,12051769,11500364,11500363,11171059,11015200,8386634,3693353,19636416,20379614,15867377,20300520 728634 29904 NM_013302,AC009034,CH471249,AK022569,AK308757,AW675420,BC032665,CA397138,CR621051,DA556486,DA735877,U93850 NP_037434,EAW50604,AAH32665,AAB58270,O00418,ABM81822,ABM84976 Hs.498892 HSU93850|MGC45041|eEF-2K calcium/calmodulin-dependent eukaryotic elongation factor 2 kinase|calcium/calmodulin-dependent eukaryotic elongation factor-2 kinase|calmodulin-dependent protein kinase III|eEF-2 kinase|elongation factor-2 kinase|eukaroytic elongation factor 2 kinase|eukaryotic elongation factor 2 kinase protein-coding 1604801 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA-specific 18948268,16641997,15229221,12477932,10970870,19767754,20379614,21102462,20877624,20878950 60678 NM_021937,AL449210,AL449214,AL449217,CH471052,AF268872,BC007933,BG420135,CR596126 NP_068756,EAW79322,AAG13375,AAH07933,P57772,Q96HZ6,ABM84184,ABM87586 Hs.477498 EFSEC|SELB OTTHUMP00000216246|elongation factor for selenoprotein translation|elongation factor sec|selenocysteine-specific elongation factor protein-coding 1344802 EEGV1 electro-encephalographic variant pattern 1 1346390 1940 1606501 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 14702039,12690205,12477932,11214970,20379614 80820 NM_030636,AC007327,AC078841,CH236951,CH471073,AB051493,AF161370,AK027386,BC011692,BC065518,DN998549 NP_085139,EAL23976,EAW94063,BAB21797,AAF28930,BAB55076,AAH65518,Q7L9B9,Q9P0C9 Hs.487994,Hs.670591 HSPC107|KIAA1706 endonuclease/exonuclease/phosphatase family domain-containing protein 1 protein-coding 1603006 EFCAB1 EF-hand calcium binding domain 1 17207965,16344560,15489334,15342556,14702039,12477932,8889548,20479155 79645 NM_001142857,NR_024605,NM_024593,AC022915,CH471068,AK021829,AK299659,AK307101,AK316037,BC025676,BC029586,BP375493,CB250588,DA174619,DB204697,DB536362,DB552638,DC336596 ADQ32617,NP_001136329,NP_078869,EAW86692,EAW86694,EAW86695,EAW86696,EAW86697,EAW86698,BAB13906,BAG61576,BAH14408,AAH25676,Q9HAE3,EAW86693 Hs.23245 FLJ11767 EF-hand calcium-binding domain-containing protein 1 protein-coding 2301274 EFCAB10 EF-hand calcium binding domain 10 16344560,12853948,12477932 100130771 NR_027068,AC073073,CH236947,BC105284,DA101957 A6NFE3 Hs.719432 miscrna 1604261 EFCAB2 EF-hand calcium binding domain 2 16710414,16344560,15489334,14702039,12477932,20379614 84288 NM_032328,NR_026586,NM_001143943,NR_026587,NR_026588,AL356512,AL589763,AB209286,AI038779,AI796049,AI911515,AK001393,AK090927,AK302883,AW195544,AW661993,BC005357,BG546306,BG701985,BI838837,BQ438351,DA156641,DB286332 NP_115704,NP_001137415,CAH70642,CAH70643,CAH70644,CAH70645,CAH72043,CAH72044,CAH72045,CAH72046,CAH72047,BAD92523,BAG64061,AAH05357,Q5VUJ9 Hs.134857 FLJ33608|MGC12458 EF-hand calcium-binding domain-containing protein 2|OTTHUMP00000038297|OTTHUMP00000038298|OTTHUMP00000038299|OTTHUMP00000038300|OTTHUMP00000222067 protein-coding 1603895 EFCAB3 EF-hand calcium binding domain 3 15489334,14702039,12477932,20379614 146779 NM_173503,NM_001144933,AC008026,CH471109,AI218847,AK098684,BC101752,BC101778,EG327376 NP_775774,NP_001138405,EAW94354,BAC05376,AAI01753,AAI01779,Q8N7B9 Hs.152670 FLJ25818|MGC126801|MGC126827 EF-hand calcium-binding domain-containing protein 3 protein-coding 1603869 EFCAB4A EF-hand calcium binding domain 4A 17207965,14702039,12477932,16344560,15489334,20418871 283229 NM_173584,AP006621,CH471158,CQ783262,AK075180,AK097334,AK127926,AK304093,BC033196,BC073821,BG674461,BU621015,BX104079,DA967563,DB161031,DN997084,GU952799 ADQ32106,NP_775855,EAX02397,EAX02398,EAX02399,CAF86467,BAC11455,BAC87194,BAG64999,AAH33196,AAH73821,Q6ZRW4,Q8N4Y2,ADD96763 Hs.660936 FLJ46033|MGC45840|MGC88858 CRAC channel regulator 2B|EF-hand calcium-binding domain-containing protein 4A|calcium release-activated calcium channel regulator 2B protein-coding 1603191 EFCAB4B EF-hand calcium binding domain 4B 16713569,16344560,16189514,15489334,14702039,12477932,19478329,20379614,20418871,20708005 84766 CR627161,DB214079,NM_001144958,NM_001144959,AC005831,AC006207,CH471116,AK057608,AK091124,AK304017,BC004524,BC150643,BU632650,BU634271,NM_032680 Q9BSW2,NP_116069,NP_001138430,NP_001138431,EAW88858,EAW88859,EAW88860,BAG64932,AAH04524,AAI50644 Hs.504534 CRACR2A|DKFZp686G13246|FLJ33046|FLJ33805|MGC4266 CRAC channel regulator 2A|EF-hand calcium-binding domain-containing protein 4B|calcium release-activated calcium channel regulator 2A protein-coding 1606096 EFCAB5 EF-hand calcium binding domain 5 16344560,12477932,10737800 374786 NM_198529,NR_026738,AC104982,AC104984,AC104996,AK128126,AK299608,AK302745,AK303060,AL833911,BC110608,BC110609,NM_001145053,BC119807,BC137519,BQ293162,BX648689,DB064946,DB076773,DB080627 NP_001138525,NP_940931,BAC87284,BAG61537,BAG63959,BAG64177,CAD38767,AAI10609,AAI10610,AAI19808,AAI37520,A4FU69 Hs.662411 DKFZp434G2420|DKFZp686I0638|FLJ46247 EF-hand calcium-binding domain-containing protein 5|OTTHUMP00000163637|OTTHUMP00000198277 protein-coding 1601856 EFCAB6 EF-hand calcium binding domain 6 8125298,15342556,19240061,15489334,14702039,12612053,12529303,12477932,11258795,10591208,9373149 64800 AA778573,BP325901,NM_198856,NM_022785,AL023801,AL031843,AL118498,Z82201,AB051459,AB073862,AK027241,AK058069,AK225596,AK225605,AK292411,AK292498,AK296679,AK309013,AK311267,AL355841,AW139921,BC039315,CD106996,Y10776,Z97055 NP_942153,NP_073622,CAQ07046,BAB33342,BAB71780,BAB15703,BAF85100,BAF85187,BAG59276,CAB91065,AAH39315,CAA71749,Q5THR3,Q9NQ18,CAQ09926,CAQ09927,CAQ09928 Hs.658996 DJBP|FLJ23588|HSCBCIP1|KIAA1672|dJ185D5.1 CAP-binding protein complex interacting protein 1|CAP-binding protein complex-interacting protein 1|DJ-1-binding protein|EF-hand calcium-binding domain-containing protein 6 protein-coding 1603602 EFCAB7 EF-hand calcium binding domain 7 16381901,15489336,14702039,12477932,11347906,11076863 84455 NM_032437,AL109925,BX004807,CH471059,AB058702,AK092219,AK292220,AK315850,AL833720,BC015814 NP_115813,CAI15774,EAX06568,EAX06569,EAX06570,BAB47428,BAF84909,BAF98741,CAH56237,AAH15814,A8K855,CAL37517,CAL37663,CAL37970,CAL38255,CAB92087 Hs.652324 DKFZp666D225|KIAA1799|RP4-534K7.1 EF-hand calcium-binding domain-containing protein 7 protein-coding 2301262 EFCAB8 EF-hand calcium binding domain 8 11780052 388795 AL035071,AL139826,AL390298,CH471077,XM_003118799,XM_003119820,XM_003120981 EAW76347,A8MWE9,XP_003118847,XP_003119868,XP_003121029 EF-hand calcium binding domain 8|EF-hand calcium-binding domain-containing protein 8|EF-hand domain-containing protein ENSP00000383366 protein-coding 2301263 EFCAB9 EF-hand calcium binding domain 9 15372022,11181995 285588 AC024561,AI024830,CH471062,CN445899,NM_001171183 A8MZ26,EAW61438,NP_001164654 Hs.716824 EF-hand calcium-binding domain-containing protein 9|EF-hand domain-containing protein protein-coding 1318351 EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1 This gene spans approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splice patterns in the 5' UTR result in three transcript variants encoding the same extracellular matrix protein. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. [provided by RefSeq] 1598888,1580863 20546612,12620389,10369267,19266077,19208748,19115204,19012040,18391952,18391951,18188955,17671114,17666404,16713569,16189514,15489334,15218514,15123717,14702039,14578376,12477932,12427233,12242346,11389162,11384588,11262647,10982184,10601734,8889548,8812496,8573024,7799918,20801516,20846217,20966902,20981449,16344560,19862539,19275936,19396169,19451621,19804359,19850834,19887559,19893584,19898900,19948975,20005202,20189936,20378157,20379614,20397748 1598888 2202 AB209212,NM_001039348,NM_004105,NG_009098,AC010895,AC096549,AY004330,CH471053,CS161052,AA704122,AI472137,AK092854,AK290599,AK293058,AK301402,NM_001039349,AK312639,AL703474,BC014410,BC098561,BU542044,BU683304,BX475672,CR590528,CR595300,CR604757,CR607072,CR611721,CR620563,U03877,AK301531,DA264704 BAD92449,ABM83440,ABM86654,NP_001034438,NP_001034437,NP_004096,AAY14669,AAX81993,AAK11491,EAX00080,EAX00081,EAX00082,CAJ30876,BAG52615,BAF83288,BAF85747,BAG63032,BAG35523,AAH14410,AAH98561,AAA65590,Q12805,Q53TA7,Q580Q6,BAG62937,Q59G97 Hs.76224 DHRD|DRAD|FBLN3|FBNL|FLJ35535|MGC111353|MLVT|MTLV|S1-5 EGF-containing fibulin-like extracellular matrix protein 1|FIBL-3|OTTHUMP00000201000|extracellular protein S1-5|fibrillin-like protein|fibulin 3|fibulin-3 protein-coding 1349728 EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2 A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. [provided by RefSeq] 1580863 10601734,16189514,17255108,16685658,16554811,16493080,16303743,15489334,14702039,12975309,12477932,12107411,11231014,10982184,10380882,20588308,15342556,20389311,16713569,19570982,19627254 30008 NM_016938,NG_012304,AP001201,CH471076,AB030655,AF093119,AF109121,AF124486,AJ132819,AK000980,AK075453,AK095794,AK098186,AK292079,AK315181,AY358899,BC010456,BC018871,BC109225,BQ478413,BQ639195,CB050184,CR541934,CR591283,CR592098,CR601268,CR602603,CR605879,CR606619,CR611399,CR622183,CR625487,DB475347,AB209121,BP382163,NR_037718 NP_058634,EAW74455,EAW74456,EAW74457,EAW74458,EAW74459,EAW74460,EAW74461,EAW74462,BAA92880,AAC62108,AAF65188,AAG45245,CAA10791,BAG50843,BAG52143,BAF84768,BAG37622,AAQ89258,AAH10456,CAG46732,O95967,Q59GI8,Q6FH22,Q96TF5,Q9H3D5,BAD92358,ABM82973,ABM86167 Hs.719933 FBLN4|MBP1|UPH1 EGF-containing fibulin-like extracellular matrix protein 2|FIBL-4|fibulin 4|fibulin-4|mutant p53 binding protein 1 protein-coding 1353196 EFHA1 EF-hand domain family, member A1 1580863 15489334,15057823,14702039,12826745,12477932,11124993,9205841,20379614,20877624 221154 NM_152726,AL136219,AL138680,CH471075,AK057745,AK091907,BC031089,BC034965,CR600850,CR611783,CR613170,CR613308,BQ438851 NP_689939,CAH70594,EAX08312,EAX08313,BAC03769,AAH31089,AAH34965,Q8IYU8,CAH70136 Hs.412103 1110008L20Rik|FLJ25016|FLJ34588 EF hand domain family A1|EF hand domain family, member A1|EF-hand domain-containing family member A1|Smhs2 homolog|ef hand domain family, member a1 protein-coding 1344142 EFHA2 EF-hand domain family, member A2 737633,1580863 15489334,12477932 737633 286097 NM_181723,AC079193,AC136305,CH471080,AL833419,BC032868,BC045553,BI546243,BX953026,DB548272 NP_859074,EAW63826,EAW63827,AAH32868,AAH45553,Q86XE3,ACE87577,ACE86890 Hs.403594 DKFZp313A0139 EF hand domain family A2|EF hand domain family, member A2|EF-hand domain-containing family member A2 protein-coding 1349676 EFHB EF-hand domain family, member B 737633,1580863 15489334,14702039,12477932,20379614 737633 151651 NM_144715,AC104182,CH471055,AK057929,AK097644,AK122616,BC028198 NP_653316,EAW64299,EAW64300,BAB71614,BAC85491,AAH28198,Q8N7U6 Hs.670883 FLJ25200 EF-hand domain-containing family member B|OTTHUMP00000207861|ef hand domain family, member b protein-coding 1317534 EFHC1 EF-hand domain (C-terminal) containing 1 19147686,18823326,18593566,18505993,17972043,17634063,17159113,17054699,16839746,16824517,16378686,16344560,16189514,15489334,15258581,14702039,14582146,14574404,12477932,9373149,9305351,8737649,8125298,20201926,20379614 114327 NM_018100,AL049611,AL136125,CH471081,CS185610,AK001328,AK094609,AK225543,AK295064,AK297632,AL122084,AY608689,AY608690,BC012921,BC020210,BQ270560,CR606154,DA906669,EU520261,BQ268404,NG_016760,NM_001172420,NR_033327 NP_060570,CAI19693,CAI20107,EAX04370,EAX04371,EAX04372,CAJ42791,BAA91628,BAH11960,BAG60005,AAT67418,AAT67419,AAH20210,ACB20691,Q5JVL4,ABM83096,ABM86290,NP_001165891 Hs.403171 EJM|EJM1|FLJ10466|FLJ37290|JAE|dJ304B14.2 EF-hand domain-containing protein 1|myoclonin-1 protein-coding 1348000 EFHC2 EF-hand domain (C-terminal) containing 2 1580863 19429002,17948898,17164267,16112844,15772651,15489334,14702039,12477932 80258 NM_025184,AC018719,AL133344,AL359744,CH471141,AK026254,AK026496,AK291187,AK292967,AK297714,BC031039,CR749363,DC331145,NG_021391 CAI42233,CAI42234,NP_079460,CAI42232,CAI40211,CAI40212,CAI40213,EAW59372,EAW59373,EAW59374,EAW59375,BAB15413,BAB15492,BAF83876,BAF85656,BAG60070,AAH31039,CAH18216,Q5JST6,Q9H5X5 Hs.521953 DKFZp686G08235|FLJ22601|FLJ22843|dJ1158H2.1 EF-hand domain-containing family member C2|OTTHUMP00000023169|OTTHUMP00000023170 protein-coding 1350827 EFHD1 EF-hand domain family, member D1 EFHD1 is an EF-hand domain-containing protein that displays increased expression during neuronal differentiation (Tominaga and Tomooka, 2002 [PubMed 12270117]).[supplied by OMIM] 1580863 17353931,15498874,15489334,14702039,12477932,12270117,20877624 80303 BC004128,BC035476,BC071886,CR597707,CR599516,CR599551,CR601176,CR603402,CR611215,CR616869,CR620373,CR624361,CR627385,DC328084,NR_027663,AC064852,AC073254,CH471063,AB209715,AF176923,AF193044,AF218006,AK023674,AK293581,AK310565,AK315442,BC002449,NM_025202 AAH02449,AAH04128,CAH10481,Q53S38,Q53SA2,Q59EU6,Q7Z2R5,Q8WYH2,Q9BUP0,NP_079478,AAX93189,AAX93178,EAW71013,EAW71014,EAW71015,BAD92952,AAQ13667,AAG22472,AAG17248,BAB14634,BAG57051,BAG37830 Hs.516769 DKFZp781H0842|FLJ13612|MST133|MSTP133|PP3051|SWS2 EF hand domain containing 1|EF hand domain family, member D1|EF-hand domain-containing protein 1|EF-hand domain-containing protein D1|OTTHUMP00000203630|OTTHUMP00000203631|OTTHUMP00000203632|swiprosin-2 protein-coding 1316863 EFHD2 EF-hand domain family, member D2 1580863 20471030,19165527,17081983,16964243,16341674,15489334,15274114,12477932,11788997,17673920,19693767 79180 NM_024329,AL031283,CH471167,AI624416,BC003033,BC007233,BC013648,BC014923,BC023611,BC068473,BI753983,BM796344,CR591260,CR608847,CR616014 NP_077305,CAI21431,CAI21432,EAW51720,EAW51721,EAW51722,EAW51723,AAH07233,AAH14923,AAH23611,AAH68473,Q96C19 Hs.465374 MGC4342|RP3-467K16.3|SWS1 EF hand domain containing 2|EF hand domain family, member D2|EF-hand domain-containing protein D2|OTTHUMP00000002320|swiprosin 1|swiprosin-1 protein-coding 1349722 EFMR epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) 5116697 1941 730990 EFNA1 ephrin-A1 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq] 1304509,1299268 8070404,2233719,8660976,19074825,18794797,17980912,17332925,17049832,16710414,16428472,16239146,16169070,16051609,15649254,15585656,15489334,15340161,15193868,14707054,14692877,12794130,12496371,12496364,12477932,11519828,11278560,11256076,11128993,10730216,10515610,10502115,10341214,10207129,9693361,9576626,9530499,9267020,8755474,8542290,19950554,20571968,7973638,7838529,7619809,10366629,9195962,19101799,19525919,19573808,19642143,20154726,15777695 1304509,1299268 1942 CR616575,NM_182685,AL691442,NM_004428,CH471121,AK057845,AK289589,AK313117,AL833641,AW274944,BC032698,BC095432,CR457416,CR590213,CR592327,CR592371,CR594624,CR599087,CR601482,CR601554,CR607258,CR607272,CR607956,CR609396,CR612531,CR614760,CR614778,CR615466,CR616999,CR618297,CR620274,CR620399,CR624007,CR624077,CR625806,CR626241,CR626798,M57730,GN087437,GN087439 NP_004419,NP_872626,CAI15319,CAI15320,EAW53131,EAW53132,EAW53133,EAW53134,EAW53135,BAF82278,BAG35938,AAH32698,AAH95432,CAG33697,AAA58388,P20827,ABM81648,ABM84826,CAX86883,CAX86884 Hs.516664 B61|ECKLG|EFL1|EPLG1|LERK1|TNFAIP4 LERK-1|TNF alpha-induced protein 4|eph-related receptor tyrosine kinase ligand 1|ephrin-A1|immediate early response protein B61|ligand of eph-related kinase 1|tumor necrosis factor alpha-induced protein 4|tumor necrosis factor, alpha-induced protein 4 protein-coding 1314277 EFNA2 ephrin-A2 This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq] 1580863 9826538,17878388,16540516,16158060,15057824,12421992,11884456,11860487,11256076,11128993,10958785,10730216,10531456,10207129,9751130,9576626,9530499,9465306,9267020,8755474,10207087,10366629,12659632,19525919 1943 NM_001405,AC004258,AC005330,CH471139,U92896,AJ007292 NP_001396,AAC04896,AAG16277,EAW69517,AAC39577,CAA07435,O43921,Q9HCB5,AAI46279,AAI48728 Hs.532655 ELF-1|EPLG6|HEK7-L|LERK6 HEK7 ligand|HEK7-ligand|LERK-6|eph-related receptor tyrosine kinase ligand 6|ephrin-A2|ligand of eph-related kinase 6 protein-coding 1352863 EFNA3 ephrin-A3 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq] 1580863 9530499,9267020,7973638,7838529,9195962,16169070,8755474,9576626,10207129,8660976,19204726,18417479,17980912,16710414,15901737,15489334,12907451,12496762,12477932,11256076,11128993,10730216,10516308,10366629,19823572,15777695 1944 NM_004952,AL691442,CH471121,AK296030,AK316248,BC017722,BC110406,BU633345,CR597504,CR607482,L37360,U14187 NP_004943,CAI15318,EAW53136,EAW53137,BAG58798,BAH14619,AAH17722,AAI10407,AAA52368,AAC50078,P52797,ABM82594,ABM85780 Hs.516656 EFL2|EPLG3|Ehk1-L|LERK3 EFL-2|EHK1 ligand|LERK-3|OTTHUMP00000219768|eph-related receptor tyrosine kinase ligand 3|ephrin-A3|ligand of eph-related kinase 3 protein-coding 1317216 EFNA4 ephrin-A4 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq] 15489334,15340161,12477932,12209731,12107412,12030849,11256076,11128993,10730216,10607706,10515610,10366629,10207129,9576626,9530499,9267020,8755474,7838529,9195962,8660976,18819711,16710414,16540516,19828693,20071790,20643727,15777695 1945 NM_005227,NM_182690,NM_182689,AJ320547,AL691442,CH471121,AI459151,AI625552,AJ006352,AJ006353,BC042610,BC107483,BE780161,BM740848,BM747625,BQ940212,CD671399,CR533569,U14188 NP_005218,NP_872632,NP_872631,CAC48189,CAI15316,CAI15317,EAW53138,EAW53139,EAW53140,CAA06992,CAA06993,AAI07484,CAG38600,AAC50079,P52798 Hs.449913,Hs.639422 EFL4|EPLG4|FLJ57652|LERK4|MGC125826 LERK-4|eph-related receptor tyrosine kinase ligand 4|ephrin-A4|ligand of eph-related kinase 4 protein-coding 1350398 EFNA5 ephrin-A5 Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq] 1580863 11416136,11256076,11128993,10730216,10601038,10531456,10366629,10207129,9751130,9576626,9530499,9267020,9195962,8755474,8661153,7748564,20889312,12477932,9245480,17474147,19270726,18628988,18563700,18385452,17400922,15901737,15489334,15107857,20659327,19668339,19695673,20029409,20379614,15777695 1946 NM_001962,AC008796,AC008800,AC008952,AC010227,AC011349,AC024587,CH471086,AK025909,AK308672,BC075054,BC075055,U26403 NP_001953,EAW49063,EAW49064,EAW49065,AAH75054,AAH75055,AAB60377,P52803 Hs.288741 AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS AL-1|LERK-7|OTTHUMP00000222715|eph-related receptor tyrosine kinase ligand 7|ephrin-A5 protein-coding 737327 EFNB1 ephrin-B1 The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq] 1599802,1580863,1304509,727396 7774950,12384430,12223469,9195962,20734337,7973638,8755474,8798744,9883737,8660976,18627045,18314490,18043713,17942634,17906625,17591954,17567680,17204606,16526919,15959873,15772651,15725075,15489334,15351694,15340161,15166289,15124102,14988728,14642617,14576067,12919674,12477932,12475948,12209731,12136247,12084815,11557983,11466320,11301003,11256076,11128993,10730216,10669731,10207129,10197531,9920925,9576626,9530499,9302274,9267020,8889548,8878483,8070404,19672298,20308325,20565770,16712791,20643727 1599802,1304509,727396 1947 NM_004429,NG_008887,AL136092,CH471132,BC016649,BC052979,BM972960,BU172498,CB132233,CR598339,L37361,U09303,U09304 NP_004420,CAB86409,EAX05370,EAX05371,AAH16649,AAH52979,AAA52369,AAB41127,AAA53093,P98172,ABM82743,ABM85931 Hs.144700 CFND|CFNS|EFL3|EPLG2|Elk-L|LERK2|MGC8782 EFL-3|ELK ligand|LERK-2|eph-related receptor tyrosine kinase ligand 2|ephrin b1|ephrin-B1|ligand of eph-related kinase 2 protein-coding 1319867 EFNB2 ephrin-B2 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq] 1580863 17207965,8559144,8660976,19356789,19108727,19036148,19035475,18957513,18836096,18713744,18580054,18570897,18488039,18445690,18300229,18231102,17611172,17380111,17204606,17196593,17167981,17123494,16867992,16430858,16357318,16343615,16007075,15998730,15996027,15951569,15764601,15745950,15718372,15489334,15471957,15458844,15193868,15126321,15083195,15057823,15047175,14499344,12761826,12734395,12477932,12206665,12136247,12051776,11983165,11920461,11128993,10730216,10648835,10473577,10207129,10066262,9920925,9883737,9718367,9630219,9576626,9533549,9530499,9267020,8878483,7833926,7534404,9195962,11152476,8755474,11256076,11780069,16511561,19664212,19728339,19875447,20233847,20483485,20491587 1948 NM_004093,AJ563723,AL138689,CH471085,BC069342,BC074856,BC074857,BC105955,BC105956,BC105957,BG741114,BQ433342,BQ708550,BU622947,CB998384,CR609389,L38734,U16797,U81262,BQ029549,DR004737 ADQ32941,NP_004084,CAD91556,CAI39907,EAX09085,AAH69342,AAH74856,AAH74857,AAI05956,AAI05957,AAI05958,AAC41752,AAA99707,AAD03786,P52799,Q2PDH7 Hs.149239 EPLG5|HTKL|Htk-L|LERK5|MGC126226|MGC126227|MGC126228 HTK ligand|LERK-5|eph-related receptor tyrosine kinase ligand 5|ephrin-B2|ligand of eph-related kinase 5 protein-coding 1346330 EFNB3 ephrin-B3 EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq] 1580863 18676680,8808709,9126477,18632560,18057206,16951161,16477309,15489334,15340161,15047175,14702039,12477932,12383247,11920461,11256076,11128993,10730216,10207129,10197531,9576626,9530499,9484836,9267020,19170196,19692168,20029409 1949 NM_001406,AC087388,CH471108,AI346983,AK027329,AK314841,BC022499,BC042944,BQ892951,U57001,U62775,U66406 NP_001397,EAW90133,EAW90134,EAW90135,BAG37359,AAH22499,AAH42944,AAB05170,AAC50707,AAC51203,Q15768 Hs.26988 EFL6|EPLG8|LERK8 EPH-related receptor transmembrane ligand ELK-L3|Ephrin B3|eph-related receptor tyrosine kinase ligand 8|ephrin-B3 protein-coding 1604382 EFR3A EFR3 homolog A (S. cerevisiae) 15489334,15363888,12477932,8590280 23167 NM_015137,AC092817,CH471060,AK294485,AK302799,AK307433,BC037910,BC047323,BC071611,BC108667,BC131486,BC152442,BX648595,CR749243,D63477,BU632041,CA775398,CX165980,DB451954,NG_028112 NP_055952,EAW92138,BAG57708,BAG64001,AAH47323,AAH71611,AAI08668,AAI31487,AAI52443,CAH56143,CAH18099,BAA09764,Q14156,AAI60042 Hs.204564 DKFZp781J0562|KIAA0143 protein EFR3 homolog A|protein EFR3-like protein-coding 1602224 EFR3B EFR3 homolog B (S. cerevisiae) 19913121,20628086,9110174,8619474,16344560,14702039,12477932,10231032,18391951 22979 NM_014971,AC012457,AC013267,AB023170,AF131834,AK095190,BC049384,DA241650 NP_055786,AAY24353,BAA76797,BAG53002,AAH49384,Q9Y2G0 Hs.4892 KIAA0953 OTTHUMP00000200943|OTTHUMP00000200944|OTTHUMP00000200945|protein EFR3 homolog B protein-coding 1319047 EFS embryonal Fyn-associated substrate The protein encoded by this gene contains a SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to be able to bind to SH3 domain of protein-tyrosine kinases. The function of this gene is unknown. Two alternatively spliced variants have been described. 1580863 11984006,9349509,16189514,15489334,12477932,9750131,9748319,16169070,17474147,20237496 10278 NM_032459,NM_005864,AL049829,CH471078,AB001466,AB001467,AI808817,AK314221,BC034246,BC046403,BE645250,CR594928,AK295933 NP_115835,NP_005855,EAW66163,EAW66164,BAA24588,BAA24589,BAG36894,AAH34246,O43281,BAG58718 Hs.24587 CAS3|CASS3|EFS1|EFS2|HEFS|SIN Cas scaffolding protein family member 3|embryonal Fyn-associated substrate|signal transduction protein (SH3 containing) protein-coding 1352796 EFTUD1 elongation factor Tu GTP binding domain containing 1 737633,1580863 16344560,14702039,12477932,11329013,20966410,20531441 737633 79631 NM_001040610,NM_024580,AC026624,AC026956,CH471136,AK023181,AK056656,BC014628,BC041565,BG204990,BX538332,CR596629,CR602608,DA260259,AK300348 NP_001035700,NP_078856,EAW99087,EAW99088,EAW99089,BAB14450,BAG51777,CAD98101,Q7Z2Z2,AAI52911,AAI56744,BAH13266 Hs.459114 FAM42A|FLJ13119|HsT19294|RIA1 elongation factor Tu GTP-binding domain-containing protein 1|ribosome assembly 1 homolog protein-coding 1606577 EFTUD2 elongation factor Tu GTP binding domain containing 2 9233818,9774689,17314511,17353931,12226669,17081983,16247014,15635413,15489334,15302935,14559993,12477932,12456665,12403470,11991638,10788320,9373149,8125298,7584028,16169070,15146077,18029348,7584026,15257298,17577209,17643375,19615732,20085707,20379614 9343 NM_001142605,NM_004247,AC015936,CH471178,AJ505017,AK126193,AK126464,AK126652,AK128148,AK225335,AK293108,AK296367,AK297392,AK302828,AK316098,BC002360,BX647305,CR456774,D21163,DC353274 NP_001136077,NP_004238,EAW51573,EAW51574,CAD43720,BAG54294,BAG54331,BAF85797,BAG59042,BAG59832,BAG64023,BAH14469,AAH02360,CAG33055,BAA04699,Q15029,Q6IBM8,Q8IXJ3,ABM85527,ABW03758 Hs.151787 DKFZp686E24196|FLJ44695|KIAA0031|Snrp116|Snu114|U5-116KD 116 kDa U5 small nuclear ribonucleoprotein component|SNU114 homolog|U5 snRNP specific protein, 116 kD|U5 snRNP-specific protein, 116 kD|U5 snRNP-specific protein, 116 kDa|U5-116 kDa|elongation factor Tu GTP-binding domain-containing protein 2|hSNU114 protein-coding 736832 EGF epidermal growth factor (beta-urogastrone) Epidermal growth factor has a profound effect on the differentiation of specific cells in vivo and is a potent mitogenic factor for a variety of cultured cells of both ectodermal and mesodermal origin. The EGF precursor is believed to exist as a membrane-bound molecule which is proteolytically cleaved to generate the 53-amino acid peptide hormone that stimulates cells to divide. [provided by RefSeq] 1626483,1580863,2317641,2317627,2317644,2317638,2317668,2317646,2317650,2317963 20800603,20854793,19010984,18990689,18844210,18831963,18813355,18773861,18757521,18722874,18676680,18632979,18571008,18543351,18519765,18511414,18490463,18487214,18485152,18483390,18467441,18463167,18441095,18434322,18398039,18382118,18365874,18349392,18325497,18292095,18276761,18271972,18212060,18167406,18156174,18096367,18094008,18088275,18080773,18036246,18006148,17991733,17991726,17986122,17968796,17962208,17950068,17943082,17940864,17912028,17898861,17851837,17762162,17673689,17661145,17634901,17626784,17617058,17612563,17578349,17573555,17567965,17562024,17545148,17479438,17473192,17453000,17433039,17397984,17392355,17334773,17316357,17311928,17227756,17223314,17204151,17175377,17123472,16979250,16969495,16946702,16939220,16885506,16872636,16847055,16837648,16820871,16788380,12637502,12540376,12531699,12508124,12477932,12425525,12397374,12388817,12368284,12202942,12192610,12163506,12163055,12141529,12138086,12093292,12009575,11994282,11971908,11950840,11925427,11914075,11903419,11896055,11844511,11796824,11751923,11438527,10973965,10788520,10748174,10579352,10436156,10199559,9925763,9661876,9188692,16762922,16728406,16691190,16636672,16584205,16436184,16428382,16413767,16407418,16344560,16332692,16316319,16282324,16274250,16248985,16214932,16210470,16134968,16115648,16033767,16019439,15982634,15950078,15913871,15901830,15886816,15860930,15802268,15798095,15748906,15735691,15729146,15675968,15663953,15659382,15622242,15613483,15536154,15509542,15491342,15489334,15488707,15485674,15485655,15481560,15373802,15373782,15373781,15329330,15272014,15260478,15256384,15194442,15192046,15183666,15180992,15175028,15129177,15087376,15081423,15063762,15003992,14676838,14662770,14651960,14614718,14523024,14520709,14507446,12960147,12954631,12879019,12795334,12788694,12768436,12722480,12672817,12667326,12643788,9712850,15611079,12620237,9482941,10559227,1501243,6603475,8639530,8845374,9356464,9544989,10567358,10648629,10734310,10913131,11823423,11894095,12218189,12593796,14560030,14665621,15475003,15574420,15962011,16407834,3491360,19634110,19624835,19549816,19520791,19492417,19491269,19488063,19470771,19453261,19388850,19336395,19319135,19236842,19203995,19179548,19172394,19167371,19144868,19141999,19127217,19124506,19110611,19087984,19086053,19081071,19074885,19073827,19064572,19032382,19020743,19014905,19011936,8419140,8123596,8077234,7736574,7730382,7640657,7615511,7558411,7540053,6382023,6290982,2790960,2789514,1639032,1522591,1334406,1281549,300079,10085134,9687510,15252009,15950906,15837620,8413296,20564212,20423485,20514023,20598233,20126978,20429940,20690902,20889718,20714325,20727996,8796265,3486749,20362419,19996314,20375273,20430735,20412119,20472833,20587610,20606012,20628086,19913121,20628624,20631636,20634891,20644561,20674545,11786904,12297050,15620700,16274239,17852426,18583979,19170196,19380191,19403524,19415484,19484147,19544388,19549686,19592671,19604397,19608641,19619867,19625176,19670348,19692168,19708171,19749156,19817957,19823871,19834535,19840254,19840943,19853299,19880507,19887603,19895983,19896111,19900104,19920151,19921131,19951549,19953086,20033794,20036812,20082277,20092031,20101173,20108217,20157331,20164030,20197289,20201065,20201926,20203692,20207214,20303009,20332099,20351270,20379614,20418097,20424473,20453000,20487573,20444693,20727496,20851879,21029725,20127414,20621058,20498653,20398806,20832399,20482449,20158379,20466569,20818748 1626483,2317641,2317627,2317644,2317638,2317668,2317646,2317650,2317963 1950 NM_001963,NG_011441,AC004050,AC005509,AF023155,CH471057,AI628974,AK299306,AK307734,AY548762,BC093731,BC113461,BC143357,CU446298,DB227969,DB349864,X04571,CA437074,NM_001178130,NM_001178131 NP_001954,EAX06257,BAG61319,AAS83395,AAH93731,AAI13462,CAA28240,P01133,Q6QBS2,AAA72173,NP_001171601,NP_001171602 Hs.419815 HOMG4|URG OTTHUMP00000219721|OTTHUMP00000219722|beta-urogastrone|epidermal growth factor|pro-epidermal growth factor protein-coding 1352088 EGFL10 EGF-like-domain, multiple 10 727966 XM_001717769,XM_001126128,AL109922,AL137007,AL450324,AL450394 XP_001717821,XP_001126128,CAI20452,CAI20453,CAC10575,CAI13283,Q5T1H1 bA307F22.3 protein-coding 1354247 EGFL6 EGF-like-domain, multiple 6 This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq] 1580863 10610727,18038328,16303743,12975309,12477932,10777661,16169070,16344560 25975 NM_015507,AC079383,CH471074,AF186084,AF193055,AJ245671,AK075214,AK300137,AK300236,AK315018,AL117610,AY358333,BC038587,CR592837,CR594559,CR596854,CR606548,CR610929,CR614169,DA534733,DC380958,NG_015963,NM_001167890,CS430826 NP_056322,EAW98821,EAW98822,AAF27812,AAG22483,CAB92132,BAC11477,BAG61924,BAG62004,BAG37508,CAB56014,AAQ88699,AAH38587,Q8IUX8,ABM81864,NP_001161362,CAL60149 Hs.12844 DKFZp564P2063|MAEG|W80 EGF repeat-containing protein 6|EGF-like protein 6|MAM and EGF domain containing|MAM and EGF domains-containing gene protein|epidermal growth factor-like protein 6 protein-coding 1602888 EGFL7 EGF-like-domain, multiple 7 20837907,19824075,20034472,19116145,18521848,18193184,17934064,16713569,15489334,15164053,15085134,14702039,14592969,12975309,12477932,20213100,19913121,20628086,17207965,20953557 51162 NM_201446,NM_016215,AL590226,CH471090,AB125649,AF186111,AK091964,AL512735,AY358901,AY358903,BC012377,BC088371,BX361374,BX647866,CR593160,CR593184,CR594154,CR599039,CR600602,CR609259,CR609845,CR611472,CR615335,CR616630,AY358902 NP_958854,NP_057299,CAH71721,EAW88244,EAW88245,EAW88246,EAW88247,EAW88248,BAD01469,AAF01429,BAG52452,CAC21666,AAQ89260,AAQ89261,AAQ89262,AAH12377,AAH88371,Q9UHF1,ADQ31907 Hs.91481 MGC111117|RP11-251M1.2|VE-STATIN|ZNEU1 EGF-like protein 7|NEU1 protein|NOTCH4-like protein|OTTHUMP00000022597|epidermal growth factor-like protein 7|multiple EGF-like domains protein 7|multiple epidermal growth factor-like domains protein 7|vascular endothelial statin protein-coding 1347289 EGFL8 EGF-like-domain, multiple 8 20587610,19143814,15489334,15340161,14656967,14574404,12975309,12477932,9341199,19851445 80864 NM_030652,AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89336,AB190520,AK126457,AK309657,AY358139,BC035574,BC052591,CR625361 NP_085155,CAI18345,CAM25646,CAI41800,CAI41801,CAM26220,CAQ06592,EAX03598,CAQ10696,CAQ09621,AAB47494,BAD51398,AAQ88506,AAH35574,AAH52591,Q99944,CAI17428,CAM24826 Hs.332138 C6orf8|FLJ44493|FLJ52513|FLJ75166|FLJ78536|FLJ97375|MGC44938|MGC59719|NG3 EGF-like protein 8|OTTHUMP00000029330|OTTHUMP00000029331|OTTHUMP00000174884|VE-statin-2|epidermal growth factor-like protein 8|vascular endothelial statin-2 protein-coding 1602070 EGFLAM EGF-like, fibronectin type III and laminin G domains 18641643,14702039,12477932,19727342,20078962 133584 NM_182798,NM_182799,NM_182801,AC010338,AC010351,AC010457,AC091839,CH471119,AK092479,AK092994,AK096474,NM_152403,AK097549,AK291602,AL832269,AL833357,BC031251,BC033177,BC033188,BC063822,BM928177,BX647551 NP_689616,NP_877950,NP_877951,NP_877953,EAW55966,EAW55967,EAW55968,EAW55969,EAW55970,BAC03900,BAC04013,BAC04800,BAC05096,BAF84291,AAH31251,AAH33177,AAH33188,AAH63822,CAH56137,Q63HQ2 Hs.20103 AGRINL|AGRNL|FLJ39155 EGF-like, fibronectin type-III and laminin G-like domain-containing protein|OTTHUMP00000221300|OTTHUMP00000221301|OTTHUMP00000221302|agrin-like protein|pikachurin protein-coding 69152 EGFR epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq] 1298665,1580956,1580957,1580953,1580954,1580955,2289947,2289949,2293731,2289943,2289979,2289955,2289980,2289950,2289951,2293728,2293730,2293732,2298502,2298499,1581898,734918,1581905,734919,1580863,1581912,1601010,1581908,2317963 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1298665,1580956,1580957,1580953,1580954,1580955,2289947,2289949,2293731,2289943,2289979,2289955,2289980,2289950,2289951,2293728,2293730,2293732,2298502,2298499,1581898,734918,1581905,734919,1581912,1601010,1581908,2317963 1956 NM_201284,NM_201282,NM_201283,NG_007726,AC006977,AC073324,AF125539,AF288738,AY588246,CH236957,CH471201,CS238505,M11234,M38425,U48723,U48724,U48725,U48726,U48727,U48728,U48729,X06370,AB209442,AF125253,AF277897,AI217671,AK225422,AK290352,AK294750,AL598260,AU137334,AW163038,AW295229,AY550966,AY698023,AY698024,BC070081,BC094761,BC118665,BC128419,CB160831,NM_005228,CR603510,DQ088980,EF210210,EF210211,K03193,U48722,U95089,X00588,X00663,HC464560,HC464562,HC464564,HC464566,CS542488,GM619915 NP_005219,NP_958441,NP_958439,NP_958440,AAS07524,AAG43243,AAG43244,AAG35786,AAG35787,AAG35788,AAG35789,AAG35790,AAS83109,EAW50962,EAW50963,EAW50964,EAW50965,CAJ55813,AAA52370,AAA63171,AAC50803,AAC50804,AAC50796,AAC50797,AAC50798,AAC50799,AAC50800,AAC50801,CAA29668,BAD92679,AAG43240,AAK01080,BAF83041,BAH11869,AAT52212,AAT97978,AAT97979,AAH94761,AAI18666,AAI28420,AAZ66620,ABQ66237,ABQ66238,AAA52371,AAC50802,AAB53063,CAA25240,CAA25282,P00533,Q147T7,Q2TTR7,Q504U8,Q59FL8,Q68GS6,Q75MF2,Q8WZA5,Q9H3C8,CBK51921,CBK51922,CBK51923,CBK51924,CAM91181,CAV33298 Hs.488293 ERBB|ERBB1|HER1|PIG61|mENA OTTHUMP00000209210|avian erythroblastic leukemia viral (v-erb-b) oncogene homolog|cell growth inhibiting protein 40|cell proliferation-inducing protein 61|epidermal growth factor receptor|epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)|erythroblastic leukemia viral (v-erb-b) oncogene homolog|proto-oncogene c-ErbB-1|receptor tyrosine-protein kinase erbB-1 protein-coding 1342940 EGI epilepsy, generalized, idiopathic 1922810 1957 735297 EGLN1 egl nine homolog 1 (C. elegans) 1580863,1334466 16956324,15721254,8606489,19631610,19477431,19339211,19304911,18834144,18776187,18505927,18347341,17933562,17932321,17579185,17353276,17060326,16880998,16815840,16782814,16710414,16489060,16407130,16161047,16157596,16155211,15897452,15563275,15247232,15156561,12912907,12670503,12615973,12477932,12351678,12163023,11598268,11595184,11595178,11574160,11056053,9828130,18285459,18072750,20574527,20404338,20801873,20727020,15474027,16511565,17848618,19159641,19546213,19563769,19724277,19737309,19915370,20028863,20156434,19639506,20466884,19624289,20956315,20959442,20961960,21030426 1334466 54583 BC005369,CR604521,DQ975380,AF246630,AF246631,AL117352,AL445524,CH471098,AF229245,AF277174,AF277176,AF334711,AI017372,AJ227859,AJ310543,AL833885,NM_022051,CS681768,NG_015865 AAH05369,ABM44413,Q9GZT9,Q9NTU9,NP_071334,AAG34568,CAI23092,CAH72105,EAW69959,AAG33965,AAK07534,AAK07536,CAC42509,CAD38741,CAP11376 Hs.444450,Hs.710300 C1orf12|DKFZp761F179|ECYT3|HIFPH2|HPH2|PHD2|SM20|ZMYND6 HIF prolyl hydroxylase 2|HIF-PH2|HIF-prolyl hydroxylase 2|HPH-2|egl nine homolog 1|egl nine-like protein 1|hypoxia-inducible factor prolyl hydroxylase 2|prolyl hydroxylase domain-containing protein 2|zinc finger MYND domain-containing protein 6 protein-coding 736328 EGLN2 egl nine homolog 2 (C. elegans) The hypoxia inducible factor (HIF) is a transcriptional complex which is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this posttranslational modification. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863,1334463,1334466 20574001,19147576,18927305,18773095,18710826,17114296,17101781,16649251,16509823,16381901,16344560,15489336,15489334,15247232,15231748,15156561,14702039,12670503,12615973,12477932,12351678,12163023,12004076,11598268,11595178,11574160,11292862,11292861,11230166,11076863,18285459,20727020,20840881,19229863,12039559,11595184,11850811,19631610,19339211,11256614,15474027,16169070,16511565,20418890,20600011,20959442 1334463,1334466 112398 NM_080732,NM_053046,NG_000008,AC008537,CH471126,AJ310544,AK025396,AK026863,AK074408,AL133009,AL832506,AY040565,BC001723,BC036051,CR623538,DA300182,AK098182 NP_542770,NP_444274,EAW57007,EAW57008,EAW57009,EAW57010,EAW57011,CAC42510,CAB61353,AAK82943,AAH01723,AAH36051,Q96KS0,CAL38684 Hs.515417 DKFZp434E026|EIT6|HIFPH1|HPH-3|PHD1 HIF prolyl hydroxylase 1|HIF-PH1|HIF-prolyl hydroxylase 1|HPH-1|egl nine homolog 2|estrogen-induced tag 6|hypoxia-inducible factor prolyl hydroxylase 1|prolyl hydroxylase domain-containing protein 1 protein-coding 732652 EGLN3 egl nine homolog 3 (C. elegans) 1580863,1334466 20599946,16407229,16098468,15489334,15251459,15247232,15156561,14702039,12670503,12615973,12477932,12163023,11598268,11595184,11595178,11574160,9373149,8125298,20727020,15721254,18954447,18927305,18347341,18337469,17684156,17003045,16958618,15474027,16511565,19339211,19574556,19584355,19724277,19737309,19786027,20028863,20379614,20959442 1334466 112399 NM_022073,AL358340,CH471078,AJ310545,AK025273,AK026918,AK123350,AK225473,BC010992,BC064924,BC102030,BC105938,BC105939,BC111057,BG716229,BX346941,BX354108,CR591195,CR592368,CR606051,CR608810,CR611178,CR613124,CR620175,CR623500,DQ975379 NP_071356,EAW65929,CAC42511,BAB15101,BAG53892,AAH10992,AAH64924,AAI02031,AAI05939,AAI05940,AAI11058,ABM44412,Q3T1B0,Q9H6Z9 Hs.135507 FLJ21620|HIFPH3|MGC125998|MGC125999|PHD3 HIF prolyl hydroxylase 3|HIF-PH3|HIF-prolyl hydroxylase 3|HPH-1|HPH-3|egl nine homolog 3|egl nine-like protein 3 isoform|hypoxia-inducible factor prolyl hydroxylase 3|prolyl hydroxylase domain-containing protein 3 protein-coding 2312701 EGOT eosinophil granule ontogeny transcript (non-protein coding) 17351112 100126791 NR_004428,AC018816,BC039547 Hs.663059 EGO|NCRNA00190 miscrna 737111 EGR1 early growth response 1 The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppresor gene. [provided by RefSeq] 1580863,1626499,1626496,1626498 20936779,12560508,14744935,19467232,19446747,19435811,19432968,19307576,19307156,19276347,19261809,19245972,19152168,19131339,19115247,19112164,19074849,19074480,19032775,18989526,18842581,18830406,18780286,18772333,18711316,18682391,18675783,18636116,18604866,18583706,18525291,18515748,18507785,18489490,18469860,18460021,18435749,18434089,18434015,18324520,18316600,18303024,18281687,18247371,18215136,18204200,18174470,18171299,18088351,18068676,18067864,18027854,17986608,17975260,17967787,17932312,17671831,17631291,17631285,17599039,17581316,17559061,17516844,17502875,17494953,17448597,17420284,17257596,17099140,16995904,16858414,16831524,16741963,16702209,16552541,16464174,16393964,16382041,16260776,16093249,16091742,16079301,16007175,15999367,15923644,15910736,15875316,15709168,15689620,15640148,15611055,15548700,15545275,15523672,15517593,15489334,15486985,15449318,15231681,15225550,15211096,15155664,15023995,15003938,14985468,14966901,14722058,14662774,14522979,12958075,12947119,12890669,12872165,12729460,12706485,12690110,12637574,12618431,12571843,12569082,12566441,12560487,12553721,12553019,12543866,12517959,8668170,8662759,7624335,3839394,3127059,2377485,2110381,2109185,1702972,1569051,1411083,1383501,1090709,12840049,15616591,20372793,20690147,20864524,20489156,20811575,12507899,12477932,12470865,12457461,12456801,12439908,12433834,12393577,12384223,12379479,12235180,12165491,12065847,12011097,11978801,11956220,11925592,11909874,11830539,11819815,11795984,11278640,11251186,11124866,10849212,10806043,10671503,10575214,10409428,10082522,10079243,10051405,10049687,9806899,20621662,20016208,14979875,1662794,19057511,19374776,19426596,19526316,19724854,19747485,19765320,19786090,19822898,19833116,19837667,19837979,19878561,19885607,19888474,19913601,19915002,19940138,20009530,20018936,20053757,20087343,20121949,20144677,20190820,20204305,20363028,20448047,20507991,20348948,20403028,20585888 1626499,1626496,1626498 1958 NM_001964,AC113403,AJ243425,CH471062,AK298101,AK301065,BC041701,BC073983,M24019,M62829,M80583,X52541,NG_021374,CS691417 NP_001955,CAB46678,EAW62135,EAW62136,BAG60386,BAG62672,AAH73983,AAA35815,CAA36777,P18146,Q546S1,ACE87567,ACE86880,CAP12211 Hs.326035,Hs.708393 AT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225 EGR-1|early growth response protein 1|nerve growth factor-induced protein A|transcription factor ETR103|transcription factor Zif268|zinc finger protein 225|zinc finger protein Krox-24 protein-coding 1352442 EGR2 early growth response 2 The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1358619,1601012,1601014,1580863 16912585,12560487,14532282,19453261,19000991,18678671,17717711,16582099,16495311,16344560,16198564,16169070,15947997,15489334,15241803,15173177,15164054,14702039,14596916,12736090,12687019,12609493,12477932,12471219,11909874,11835375,11545686,11523566,11239949,10960786,10762521,10502832,10371530,10369870,9537424,8702157,8093858,7935840,3140236,2496302,2111009,20628624,20687139,19651900,20067763,20144677,20194224,20379146,20513111 1358619,1601012,1601014 1959 NM_001136178,NM_000399,NM_001136179,NM_001136177,NG_008936,AL133417,CH471083,CQ834156,CQ834160,X53700,AF139463,AK091399,AK296830,AK312813,BC035625,CD370447,CR749641,DA581108,DB242561,J04076,HI574260 NP_001129650,NP_000390,NP_001129651,NP_001129649,CAH73827,EAW54238,EAW54239,CAH05293,CAH05295,AAD24588,BAG52349,BAG59400,BAG35671,AAH35625,CAH18435,AAA52372,P11161,CBX47619 Hs.1395 AT591|CMT1D|CMT4E|DKFZp686J1957|FLJ14547|KROX20 EGR-2|KROX-20, Drosophila, homolog (early growth response-2)|Krox-20 homolog, Drosophila|early growth response protein 2|zinc finger protein Krox-20 protein-coding 736598 EGR3 early growth response 3 The gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also plays a role in muscle development. [provided by RefSeq] 1580863 15171706,11909874,1906159,9731539,9488654,19453261,19124717,18059339,17360599,15489334,15173177,8889549,8443122,14525795,12477932,20634891,20687139,19822898,19839995,19965691,20144677,20379146,20537399 1960 NM_004430,AC105046,CH471080,AK292464,AK313604,BC104765,BC112279,N66802,S40832,X63741,AK294968,AK295134,DC333411,NM_001199880,NM_001199881 NP_004421,EAW63649,BAF85153,BAG36369,AAI04766,AAI12280,AAB19317,CAA45275,Q06889,BAG58041,BAG58157,NP_001186809,NP_001186810,ADR82983 Hs.534313 MGC138484|PILOT EGR-3|early growth response protein 3|zinc finger protein pilot protein-coding 735817 EGR4 early growth response 4 728504,1580863 12477932,1584812,1658795,16344560,15815621,12560487,8504297,2072895,19828938,20144677 728504 1961 NM_001965,AC010913,CH471053,X69438,AK314154,BC034462,BC136252,BC143379,BX091371,DA151016,DA711319,X60104 NP_001956,AAX88903,EAW99734,CAA49214,BAG36840,AAI36253,AAI43380,CAA42698,Q05215 Hs.3052 NGFI-C|NGFIC|PAT133 AT133|EGR-4|early growth response protein 4 protein-coding 1346487 EHBP1 EH domain binding protein 1 20717903,20878950,21071540,20936779,19423541,19318432,18264098,16344560,15342556,15247266,15144186,14702039,14676205,12477932,12107410,10048485,20690139,17643375,19549807,19767753,19866473,19900942,19902474,20450899,20460480,20468071 23301 CA394214,NM_001142615,NM_015252,NM_001142616,NM_001142614,AC007098,AC009501,AC092155,AC092567,CH471053,AB020710,AK000828,AK000986,AK292545,AK309125,AK310828,AL833968,AY331186,AY531390,BC029477,BC067215,BP361773,DA403235,NG_016758 NP_001136087,NP_056067,NP_001136088,NP_001136086,AAY14789,AAY24356,AAX82024,EAW99969,EAW99970,EAW99971,BAA74926,BAA91391,BAG50844,BAF85234,CAD38814,AAQ97141,AAS48537,AAH29477,AAH67215,Q8NDI1 Hs.271667 HPC12|KIAA0903|NACSIN EH domain-binding protein 1|NPF calponin-like protein|OTTHUMP00000201905 protein-coding 1342687 EHBP1L1 EH domain binding protein 1-like 1 14702039,12477932,12107410,11790784,20708005 254102 NM_001099409,AP001362,AK024451,AK092750,AL713799,AL834433,BC024207,BX443367,CA397617,CR623980 NP_001092879,BAB15741,CAD39093,AAH24207,Q8N3D4 Hs.502867 DKFZp762C186|FLJ35431 EH domain-binding protein 1-like protein 1|tangerin protein-coding 1319124 EHD1 EH-domain containing 1 This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. [provided by RefSeq] 1580863 19369419,19798736,19864458,20489164,15371016,18661112,17899392,17507647,17284518,17081983,15710626,15489334,15247266,15020713,14702039,12665801,12477932,12121420,12032069,11423532,10673336,10564830,10395801,9397678,9253601,9110174,8619474 10938 NM_006795,AP001187,CH471076,AF001434,AF086188,AF099011,AK096747,AK097842,AK098723,AK124613,AK126581,AK297654,AK299096,AK300326,AK302930,AK312316,AY007161,BC036898,BC104799,BC104825,CR590332,CR593287,CR598504,CR601381 NP_006786,EAW74317,EAW74318,EAW74319,EAW74320,EAW74321,AAB81204,AAD45866,BAG53542,BAG60021,BAG61156,BAG62076,BAG64091,BAG35240,AAG02009,AAI04800,AAI04826,Q9H4M9 Hs.710868,Hs.523774 FLJ42622|FLJ44618|H-PAST|HPAST1|PAST|PAST1 EH domain-containing protein 1|OTTHUMP00000069747|OTTHUMP00000069748|OTTHUMP00000196087|PAST homolog 1|testilin protein-coding 1348695 EHD2 EH-domain containing 2 This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq] 1580863 20489164,10673336,17914359,16344560,16155252,15489334,15242332,15182197,14702039,14676205,12477932,15020713 30846 AK315548,BC014445,BG677716,CR607936,CR609202,DA094880,DB260808,AC008745,AC010519,CH471126,AF181263,AF454952,AK026134,AK074701,AK097126,AK097228,AK293429,AK296907,AK298067,AK300512,NM_014601 BAG62224,BAG37926,AAH14445,Q8NCJ3,Q9NZN4,ABM83761,ABM87081,NP_055416,EAW57505,EAW57506,AAF40470,AAL51078,BAC11147,BAG53436,BAG56934,BAG59463,BAG60358 Hs.726202 FLJ96617|PAST2 EH domain containing 2|EH domain-containing protein 2|PAST homolog 2 protein-coding 1346639 EHD3 EH-domain containing 3 1580863 20489164,10673336,19139087,16344560,16251358,15489334,12665801,12477932,12121420,11423532,17507647,15020713,19820697 30845 NM_014600,AL121657,CH471053,AF181264,AF214736,AK294222,AK316006,BC033100,DA196836 NP_055415,EAX00481,AAF40471,AAF32285,BAG57526,BAH14377,Q9NZN3,AAI56224,AAI56997,EAX00480 Hs.368808 PAST3 EH domain containing 3|EH domain-containing protein 3|PAST homolog 3 protein-coding 734140 EHD4 EH-domain containing 4 1580863 20489164,15489334,15342556,12477932,12097419,11533061,8889548,10673336,17353931,11256614,18331452,15592455 30844 NM_139265,AC039056,CH471125,AF086163,AF181265,AF307137,AF323924,AF454953,AK024902,AK074621,AK292634,BC006287,BC051823,BC077716,BP314075,CF541306 NP_644670,EAW92525,EAW92526,AAF40472,AAG28784,AAK11599,AAL51079,BAF85323,AAH06287,AAH51823,Q9H223,ABM83671,ABM86944 Hs.143703 PAST4 EH domain containing 4|EH domain-containing protein 4|PAST homolog 4|hepatocellular carcinoma-associated protein 10/11|hepatocellular carcinoma-associated protein HCA11|ortholog of rat pincher|pincher protein-coding 1321091 EHF ets homologous factor This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be associated with asthma susceptibility. This protein may be involved in epithelial differentiation and carcinogenesis. [provided by RefSeq] 1580863 10644770,17353931,18950845,18475289,18037958,17903297,17627613,17172423,17027647,16554811,16380452,15489334,12477932,12444029,12359648,11259407,10737800,10527851,8889548,16344560,21107309,16341674 26298 NM_012153,AC087783,AF163685,AL157952,CH471064,AF124438,AF124439,AF170583,AF203977,AF212848,AK025244,AK309318,AK310867,AL703839,AY882601,BC038995,BF754249,BM821693,BM834021,BM975808,BX486553,CD722227,CB240726,DA460976,DB214606 NP_036285,CAC12700,CAC12701,EAW68162,EAW68163,EAW68164,EAW68165,EAW68166,AAD30990,AAD30991,AAF06998,AAG35644,AAF61670,AAW80658,AAH38995,Q9NZC4,ABZ92399 Hs.653859 ESE3|ESEJ ESE-3|ESE3 transcription factor|ETS domain-containing transcription factor|ETS homologous factor|epithelium-specific Ets transcription factor 3|epithelium-specific ets factor 3|hEHF protein-coding 1349142 EHHADH enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase 1580863 1651711,21042317,8188243,19240061,18660489,12477932,9373149,8125298,10856712,19734545,20877624 1962 AC007934,AJ427345,CH471052,AK223460,AK291798,AK301521,BC011030,BC030982,BC038948,BC110460,NM_001966,L07077,S50245,DC418722,NG_015999,NM_001166415 AAI10461,NP_001957,CAD22483,EAW78228,EAW78229,EAW78230,BAD97180,BAF84487,BAG63025,AAH30982,AAH38948,AAA53289,AAB19482,Q08426,NP_001159887 Hs.429879 ECHD|L-PBE|LBFP|LBP|MGC120586|PBFE 3,2-trans-enoyl-CoA isomerase|L-3-hydroxyacyl-CoA dehydrogenase|L-bifunctional protein, peroxisomal|OTTHUMP00000210416|PBE|enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase|peroxisomal bifunctional enzyme|peroxisomal enoyl-CoA hydratase protein-coding 1316868 EHMT1 euchromatic histone-lysine N-methyltransferase 1 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20588255,12004135,19128641,19124506,18264113,16826528,16702210,16501248,15805155,15489334,14702039,12477932,12168954,11347906,8889548,19010785,19264732,19531572,19843671,20084102,20118233,20379614,20453000,20211142,20800603,20960050,21041608 79813 NM_001145527,AL590627,AL611925,CH471090,AB028932,AB058779,AF461894,AK022941,NM_024757,AL713772,AL832865,AY083210,BC011608,BC025772,BC047504,BM681619,BQ028833,CA426038,NG_011776 NP_079033,NP_001138999,CAI17354,CAI17355,CAH71076,CAH71077,EAW88409,EAW88410,EAW88411,EAW88412,EAW88413,BAB56104,BAB47505,AAQ04808,BAB14321,CAD28534,AAM09024,AAH11608,AAH25772,AAH47504,Q71M33,Q86X08,Q9H9B1 Hs.495511 DEL9q34|DKFZp667M072|EUHMTASE1|Eu-HMTase1|FLJ12879|FP13812|GLP|KIAA1876|KMT1D|RP11-188C12.1|bA188C12.1 G9a like protein|G9a-like protein 1|GLP1|H3-K9-HMTase 5|OTTHUMP00000022711|OTTHUMP00000212228|euchromatic histone methyltransferase 1|histone H3-K9 methyltransferase 5|histone-lysine N-methyltransferase, H3 lysine-9 specific 5|lysine N-methyltransferase 1D protein-coding 1605700 EHMT2 euchromatic histone-lysine N-methyltransferase 2 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. This gene is found near this cluster; it was mapped near the gene for C2 within a 120-kb region that included a HSP70 gene pair. These genes are all within the human major histocompatibility complex class III region. This gene was thought to be two different genes, NG36 and G9a, adjacent to each other but a recent publication shows that there is only a single gene. The protein encoded by this gene is thought to be involved in intracellular protein-protein interaction. There are three alternatively spliced transcript variants of this gene but only two are fully described. [provided by RefSeq] 14985713,16702210,17474147,17540172,19010785,19124609,19531572,19690169,19776757,19843671,19851445,20084102,20118233,20335163,20421388,20453000,16287849,16344560,16189514,15590646,15489334,15269344,14702039,14656967,12700765,12477932,12130538,12004135,11707778,11316813,2813433,15200951,20940408,8457211,19144645,19124506,19061646,18850007,18809684,18647749,18446223,17707230,17584299,17145766,17085482,17005678,16964243,16501248,19242095,19943104,19056828,19706462,19754958,19759913,20211142,20960050,21041608 10919 BX005460,CR759784,BC002686,BC009351,BC018718,BC020970,CR596486,CR606801,CR624754,DA099526,DA106400,X69838,NM_006709,AF134726,AL662834,AL671762,AL844853,BA000025,CH471081,CR388202,CR388219,CR936237,AB209433,AJ315532,AK056936,AK092866,AK302904,NM_025256 BAH13838,AAH02686,AAH09351,AAH18718,AAH20970,CAA49491,Q59FM7,Q5JQA2,Q96KQ7,NP_079532,NP_006700,AAD21811,AAD21812,CAI17747,CAI17748,CAI18224,CAI18225,CAI18226,CAI41852,CAI41853,BAB63294,BAB63295,EAX03540,EAX03541,EAX03542,EAX03543,EAX03544,CAQ09506,CAQ09507,CAQ09508,CAQ09509,CAQ07473,CAQ07474,CAQ09159,BAD92670,CAC86666,BAB71314 Hs.709218 BAT8|C6orf30|DKFZp686H08213|FLJ35547|G9A|KMT1C|NG36 G9A histone methyltransferase|H3-K9-HMTase 3|HLA-B associated transcript 8|HLA-B-associated transcript 8|ankyrin repeat-containing protein|histone H3-K9 methyltransferase 3|histone-lysine N-methyltransferase, H3 lysine-9 specific 3|lysine N-methyltransferase 1C|protein G9a protein-coding 1320441 EI24 etoposide induced 2.4 mRNA This gene has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The protein encoded by this gene contains six putative transmembrane domains and may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 9305847,10594026,17981155,17081983,12477932,11753653,11498783,10965130,9373149,8125298 9538 NM_004879,NM_001007277,AP001494,CH471065,AB209820,AF010313,AK223029,AK291951,AK296620,AK301556,AK315841,AK316539,BC002390,BC029333,BM450796,BM467354,BQ936285,CR591658,CR594513,CR596457,CR601267,CR603925,CR605259,CR606550,CR609082,CR609666,CR620959,CR624786 NP_004870,NP_001007278,EAW67641,EAW67642,BAD93057,AAC39531,BAF84640,BAG59228,BAG63052,BAF98732,BAH14910,AAH02390,O14681,Q59EJ1,ABM82287,ABM85467 Hs.643514 PIG8|TP53I8 etoposide-induced protein 2.4 homolog|p53-induced gene 8 protein|tumor protein p53 inducible protein 8 protein-coding 1348426 EID1 EP300 interacting inhibitor of differentiation 1 1580863 14963109,18557765,11073990,11964378,15837424,11073989,19276448,17559085,12477932,11223246,10828624,9660940,15806172,15949438 23741 AC012379,CH471082,AF092135,AF109873,AF274947,AF349444,AI360508,AK098383,AK315365,AL109701,AL357456,BC007944,BC024151,BC114944,BC114946,BI550673,CR590606,CR591214,CR594809,CR596029,CR596911,CR597592,CR597645,CR597731,CR598629,CR598752,CR599202,CR599918,CR600484,CR605769,CR607243,CR609265,CR609929,CR609938,CR610869,CR611063,NM_014335,CR613655,CR614421,CR621532,CR623365,CR624399,CR612975 NP_055150,EAW77357,AAD40377,AAG35179,AAK07524,AAK29640,BAC05296,BAG37758,CAB52022,CAB93108,AAI14945,AAI14947,Q9Y6B2 Hs.255973 C15orf3|CRI1|EID-1|IRO45620|MGC138883|MGC138884|PNAS-22|PTD014|RBP21 21 kDa pRb-associated protein|CREBBP/EP300 inhibitor 1|CREBBP/EP300 inhibitory protein 1|E1A-like inhibitor of differentiation 1|EP300-interacting inhibitor of differentiation 1|NB4 apoptosis related protein|Rb- and p300-binding protein EID-1|retinoblastoma protein-associated protein protein-coding 1351030 EID2 EP300 interacting inhibitor of differentiation 2 737633,1580863 14612439,14585496,12477932,12586827,15970276 737633 163126 NM_153232,AC011500,CH471126,AK128468,AY251272,BC030137,BC071854,BC099899,CR590269,CR618064,CR619159 NP_694964,EAW56909,BAC87454,AAP12559,AAH30137,AAH71854,AAH99899,Q6IPM4,Q8N6I1 Hs.18949 CRI2|EID-2|MGC20452 CREBBP/EP300 inhibitor 2|CREBBP/EP300 inhibitory protein 2|E1A like inhibitor of differentiation 2|EID-1-like inhibitor of differentiation 2|EP300-interacting inhibitor of differentiation 2 protein-coding 1603273 EID2B EP300 interacting inhibitor of differentiation 2B 15970276,14702039,12477932,16169070 126272 NM_152361,AC011500,CH471126,AK096263,BC009725,BC040157,BC051333 NP_689574,EAW56908,BAC04743,AAH09725,Q96D98 Hs.135181 EID-3|FLJ38944 EID-2-like inhibitor of differentiation 3|EID-2-like inhibitor of differentiation-3|EID-2B|EP300-interacting inhibitor of differentiation 2B protein-coding 1603793 EID3 EP300 interacting inhibitor of differentiation 3 16189514,15987788,15752197,12477932 493861 NM_001008394,AC090107,CH471054,AK098698,BC027612 NP_001008395,EAW97747,BAC05385,AAH27612,Q8N140 Hs.659857 FLJ25832|NSE4B|NSMCE4B E1A-like inhibitor of differentiation 3|EID-1-like inhibitor of differentiation 3|EID-3|EP300-interacting inhibitor of differentiation 3 protein-coding 1342567 EIF1 eukaryotic translation initiation factor 1 20921384,10347211,15592455,15489334,12477932,11073994,10754390,10228174,10208429,8889549,7904817,16169070 10209 BU165055,CR457051,CR590482,CR592450,CR595398,CR595493,CR595653,CR595741,CR598013,CR598839,CR602728,CR602842,CR606182,CR607638,CR609099,CR611566,CR613776,CR615866,CR615963,CR620364,CR624079,CR625089,L26247,BT006645,AF083441,AF100737,AJ012375,AK311209,AK311862,AL050005,BC005118,BC008710,NM_005801,AC130686,CH471152,AA159721 AAP35291,CAG33332,AAA60602,P41567,Q6IAV3,ABM87699,ABW03855,AAD52028,AAD19900,CAD66615,BAG34803,AAH05118,AAH08710,NP_005792,EAW60754,EAW60755 Hs.150580 A121|EIF-1|EIF1A|ISO1|SUI1 eukaryotic translation initiation factor 1|protein translation factor SUI1 homolog|sui1iso1 protein-coding 1601944 EIF1AD eukaryotic translation initiation factor 1A domain containing 14702039,12477932,17207965,18173130,16189514 84285 NM_032325,AP006287,CH471076,CS300548,AK094129,AK311891,BC005131 ADQ32823,NP_115701,EAW74478,EAW74479,EAW74480,EAW74481,EAW74482,CAK32212,BAC04293,BAG34832,AAH05131,Q8N9N8 Hs.425178 MGC11102|haponin eukaryotic translation initiation factor 1A domain-containing protein|hypothetical protein mgc11102|probable RNA-binding protein EIF1AD protein-coding 1347140 EIF1AP1 eukaryotic translation initiation factor 1A pseudogene 1 16710414,15772651,15489334,12477932,10678173,8106356 280661 NG_002419,AL021920,CR620297,AL137798,NG_026916 Hs.522897 EIF1AP1 pseudo 1351588 EIF1AX eukaryotic translation initiation factor 1A, X-linked This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq] 1580863 20098747,8106356,18029348,12588972,17784828,16710414,15772651,15489334,14660691,12569173,12514125,12477932,12426392,11699879,11447110,10982835,10678173,9381176,20060839 1964 NM_001412,AL732366,CH471074,AK312320,AL079283,AL832930,BC000793,BC047573,BC067851,BM467724,BT007064,CR596752,CR610950,L18960,BC110421 NP_001403,CAI40550,CAI40551,EAW98972,EAW98973,BAG35242,AAH00793,AAH67851,AAP35727,AAA19812,P47813,ACE87337,ACE86655 Hs.522590 EIF1A|EIF1AP1|EIF4C|eIF-1A|eIF-4C OTTHUMP00000024301|Putative eukaryotic translation initiation factor 1A|eIF-1A X isoform|eukaryotic translation initiation factor 1A, X chromosome|eukaryotic translation initiation factor 1A, X-chromosomal|eukaryotic translation initiation factor 4C protein-coding 1343052 EIF1AY eukaryotic translation initiation factor 1A, Y-linked This gene encodes a protein similar to eukaryotic translation initiation factor 1A (EIF1A). EIF1A is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq] 1580863 12569173,18029348,16713569,15489334,15252450,14660691,12815422,12477932,9381176,19605777 9086 AC007678,NM_004681,CH471208,AF000987,BC005248,BF694967,BT007201,DQ786267 NP_004672,EAX11716,AAC51834,AAH05248,AAP35865,O14602,ABM92193,ABM84662 Hs.461178 eIF-1A Y isoform|eIF-4C|eukaryotic translation initiation factor 1A, Y chromosome|eukaryotic translation initiation factor 1A, Y-chromosomal|eukaryotic translation initiation factor 4C protein-coding 1601885 EIF1B eukaryotic translation initiation factor 1B 17353931,7904817,15489334,12477932,10931946,9373149,8125298 10289 NM_005875,AC104186,CH471055,AA521449,AF064607,AF077052,AF263452,AK223448,AK311922,BC006996,BF667107,CA335728,CR542223,CR600400,CR601510,CR602294,CR610118 NP_005866,EAW64598,EAW64599,AAC17112,AAD27785,AAF79182,BAD97168,BAG34863,AAH06996,CAG47019,O60739,Q53F41,Q6FG85 Hs.315230 GC20 eukaryotic translation initiation factor 1b|protein translation factor SUI1 homolog GC20|translation factor sui1 homolog protein-coding 1605026 EIF2A eukaryotic translation initiation factor 2A, 65kDa EIF2A is a 65-kD protein that catalyzes the formation of puromycin-sensitive 80S preinitiation complexes (Zoll et al., 2002 [PubMed 12133843]).[supplied by OMIM] 17407708,12133843,19223463,19190324,19131336,18794359,18287093,18195013,18063576,17894550,17715234,17553788,16928686,16870703,16717090,16631606,16373505,15718232,14702039,12477932,1620067,15781241,12687390,12370288,15345721,15341733,15961545,15475356,19913121,20519500,20628086,19586904,19605483,19744687,21090173 83939 NM_032025,AC107426,CH471052,AF109358,AF172818,AF212241,AF497978,AI560242,AK027356,AK293993,AK298586,AL833101,BC011885,BX647951,CR598149,CR601134,CR607540,CR608205 NP_114414,EAW78830,EAW78831,EAW78832,AAQ13506,AAQ13612,AAK14926,AAM83402,BAB55058,BAG57357,BAG60776,AAH11885,Q9BY44,ABM87787,ABW03863 Hs.655782 CDA02|EIF-2A|MST089|MSTP004|MSTP089 65 kDa eukaryotic translation initiation factor 2A|OTTHUMP00000216447|OTTHUMP00000216449|eukaryotic translation initiation factor 2A protein-coding 1354333 EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11036079,19133234,17081983,16381901,15489336,15489334,14702039,12853948,12767237,12690205,12477932,12391722,11256614,11230166,11101152,11076863,10931946,10718198,7709427,10542257,1677563,19851296,20071449,20198315,9819435 27102 AK075192,AK290327,AK295712,AL136563,AL834494,BC006524,CR610472,CR618147,CR620181,CR620243,DC341983,NM_001134335,AC004895,AC005995,CH236963,CH878731,AB037790,AF085994,AF100784,AF116634,AF147094,AF183414,AF255050,NM_014413 BAC11461,BAF83016,BAG58556,CAB66498,CAD39152,AAH06524,Q549K6,Q75MR0,Q9BQI3,CAL37526,CAL38154,NP_055228,NP_001127807,AAS00388,EAL23714,EAW55049,EAW55050,EAW55051,BAA92607,AAP97223,AAF71057,AAF66736,AAG09683,AAF70289 Hs.520205 HCR|HRI|KIAA1369 eukaryotic translation initiation factor 2-alpha kinase 1|heme regulated initiation factor 2 alpha kinase|heme sensitive initiation factor 2a kinase|heme-controlled repressor|heme-regulated eukaryotic initiation factor eIF-2-alpha kinase|heme-regulated inhibitor|heme-regulated initiation factor 2-alpha kinase|heme-regulated repressor|hemin-sensitive initiation factor 2-alpha kinase protein-coding 1345835 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 2301741 20485506,20587610,20588308,20628624,17353931,19507191,19445956,19434718,19416861,19353519,19259124,19229320,19189853,19151623,19109397,19028691,19023099,19004947,18976633,18957415,18936160,18927075,18835251,18728014,18684960,18684815,18599499,18496558,18426922,18087277,18063576,18048689,18023289,17977969,17975119,17959656,17928446,17928244,17851256,17785458,17716668,17686861,17612505,17597457,17596833,17541283,17522227,17451862,17420072,11238927,16216244,19349624,19515768,19605474,19605483,19642004,19710021,19733181,19744687,19776135,19812373,19846517,19846675,20006836,20006840,20171114,20331378,20353946,21123651,19106640,20395957,20447405,21048031,20685959,20181660,16288713,17318221,10648614,1351683,10866685,8576172,14638359,13678666,12944978,12882984,12679338,12665801,12609980,12539042,12483527,12477932,12473108,12447867,12397061,12396729,12368348,12368306,12349906,12231563,12138106,12060652,12055262,12051728,11991642,11985496,11921349,11555640,11526399,11447118,11438540,11438536,11438532,11350938,11337501,11278865,11152499,11123929,10884347,10848580,10747897,10723127,10684936,17307214,17290288,17284445,17202131,16989899,16954686,16924232,16861808,16861340,16785445,16580685,16466763,16446363,16373505,16339759,16271080,16156900,15907845,15880455,15815621,15737233,15635413,15625311,15607693,15596837,15535414,15489334,15299030,15207627,15122791,15121867,14961569,14765129,14698665,10557102,10542257,10400814,10400669,10390359,10348343,10330179,10320367,9819435,9781815,9736623,9735304,9726442,9721103,9687506,9528799,9214631,9143277,9135145,9079663,8921913,8887659,8812437,8601309,8099444,7757816,7738010,7686884,7686883,7568151,7491766,2180064,1708818,1695551,1677563,1373554,1373553,9447982,11468270,10620360,19210572 2301741 5610 NM_001135651,NM_001135652,AC007899,AF167472,AY228338,CH471053,U50648,AF086566,AI360504,AK290655,AK313818,AY302136,BC007769,BC022314,BC040851,BC057805,BC093676,NM_002759,BC101475,BC143228,BC143230,BM473760,CR600308,F03305,M35663,M85294 AAH93676,NP_002750,NP_001129123,NP_001129124,AAY24317,AAF13156,AAO38055,EAX00406,EAX00407,EAX00408,EAX00409,AAC50768,BAF83344,BAG36554,AAP57628,AAH07769,AAH22314,AAH40851,AAH57805,AAI01476,AAI43231,AAA36409,AAA18253,P19525,Q05CP4,Q6PK38,Q7Z6F6,Q8IW76 Hs.131431 EIF2AK1|MGC126524|PKR|PRKR OTTHUMP00000201320|P1/eIF-2A protein kinase|double stranded RNA activated protein kinase|eIF-2A protein kinase 2|interferon-induced, double-stranded RNA-activated protein kinase|interferon-inducible RNA-dependent protein kinase|interferon-inducible elF2alpha kinase|p68 kinase|protein kinase RNA-activated|protein kinase, interferon-inducible double stranded RNA dependent protein-coding 1354090 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 1601017,1580863,734923 10542257,10848580,16288713,19061639,19586904,19816510,19837917,20072656,20103619,20379614,10026192,10677345,11907036,12086964,18787411,18664456,18451152,18426796,18216498,18063576,17823375,17785458,17229688,16344560,16148948,15650164,15489334,15483661,15220213,15146197,14517290,12610133,12477932,12446838,12446770,12370288,12014989,11555640,10932183,10575235,9819435,8099443,1677563,19029953,19913121,20463975,20628086,20709135,20348950,20800603,20881960 1601017,734923 9451 AF284604,AF284605,AF284606,AF284607,AF284608,AF284609,AF284610,AF284611,AF284612,AF284613,AF284614,DA990609,NG_016424,AF110146,AF193339,AI650734,AK128659,AK308312,AK315287,BC126354,BC126356,BQ014181,CN285475,CR749382,DB287944,NM_004836,AC062029,AC104134,AF284615,CH471215 EAW77069,AAD19961,AAF61199,BAG54707,BAG37696,AAI26355,AAI26357,CAH18234,Q68DI6,Q9NZJ5,EAW77068,NP_004827,AAY14777,AAY24331,AAF91480 Hs.591589 DKFZp781H1925|HRI|PEK|PERK|WRS OTTHUMP00000207187|OTTHUMP00000207188|PRKR-like endoplasmic reticulum kinase|eukaryotic translation initiation factor 2 alpha kinase 3|eukaryotic translation initiation factor 2-alpha kinase 3|heme-regulated EIF2-alpha kinase|hsPEK|pancreatic EIF2-alpha kinase protein-coding 1322904 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 EIF2AK4 belongs to a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2S1; MIM 603907) to downregulate protein synthesis in response to varied cellular stresses (Berlanga et al., 1999 [PubMed 10504407]).[supplied by OMIM] 1580863 20473272,20551969,10504407,18287093,17192257,17081983,15761153,15489334,14702039,14671302,12477932,10718198,19586904,19615732,20168091 440275 NM_001013703,AC012377,AC025168,AY418110,BX640919,CH471125,AB037759,AJ243428,AK027011,AK074361,AL137627,AL137676,AL157497,AL832907,BC009350,BC014915,BC019914,BC061591,BC078179,BX649048,CR605057 NP_001013725,EAW92388,BAA92576,CAB58360,BAB15625,CAB70849,CAB75678,CAH10626,AAH09350,AAH78179,Q9P2K8,AAI46320 Hs.656673 GCN2|KIAA1338 GCN2 eIF2alpha kinase|GCN2-like protein|eukaryotic translation initiation factor 2-alpha kinase 4 protein-coding 733321 EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 734924,1580863 18632786,11323413,9235896,17353931,16289705,8626696,15217090,12499492,15060152,18330844,18263758,16169070,15776425,15752756,15489334,14993275,14566705,12707859,12477932,11835386,10858531,10805739,9446619,8887689,7495858,1883206,19913121,20628086,16344560,19631657 734924 1967 NM_001414,AC117503,CH471054,AK294815,AL541292,BC103763,BC104188,BC104189,CR456831,CR596977,CR597921,CR602086,CR605116,CR606092,CR606497,CR609524,CR609781,CR612620,CR613959,CR624300,CR624872,X95648,AI540796,DA221985,DA879094,NG_015862 NP_001405,EAW98424,EAW98425,BAG57931,AAI03764,AAI04189,AAI04190,CAG33112,CAA64950,Q14232 Hs.78592 EIF-2B|EIF-2Balpha|EIF2B|EIF2BA|MGC117409|MGC125868|MGC125869 eIF-2B GDP-GTP exchange factor subunit alpha|translation initiation factor eIF-2B subunit alpha|translation initiation factor eif-2b alpha-subunit protein-coding 731256 EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa Eukaryotic initiation factor-2B (EIF2B) is a GTP exchange protein essential for protein synthesis. It consists of alpha (EIF2B1; MIM 606686), beta (EIF2B2), gamma (EIF2B3; MIM 606273), delta (EIF2B4; MIM 606687), and epsilon (EIF2B5; MIM 603945) subunits. EIF2B activates its EIF2 (see MIM 603907) substrate by exchanging EIF2-bound GDP for GTP.[supplied by OMIM] 734925,1580863 8619474,11323413,15054402,15060152,16289705,8626696,15776425,14566705,15217090,15507143,12499492,18029348,18632786,17878805,16225457,15489334,14993275,12707859,12508121,12477932,11959995,11704758,10858531,10805739,9446619,9110174,8887689,7596406,16169070,20734064,19913121,20628086,18263758 734925 8892 NM_014239,AC006530,AL049780,CH471061,AF035280,BC000494,BC003165,BC011750,BI908906,BX161473,CR592355,CR608189,CR611901,CR622961,CR625991,CR626736,L40395,AI265790,NG_013333 NP_055054,AAD30183,EAW81210,AAB88176,AAH00494,AAH03165,AAH11750,CAD61929,AAC42002,P49770,Q53XC2,Q9BPX4,ABM82290,ABM85470 Hs.409137 EIF-2Bbeta|EIF2B S20I15|S20III15|eIF-2B GDP-GTP exchange factor subunit beta|eukaryotic translation initiation factor 2b, subunit 2 (beta, 39kd)|translation initiation factor eIF-2B subunit beta protein-coding 732190 EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 734924,1580863 11323413,15054402,15060152,10900014,16289705,8626696,15217090,12499492,18632786,18263758,16710414,16381901,16288713,15489336,15489334,14702039,12707859,12477932,11835386,11230166,11076863,10858531,10805739,16169070,17353931,10737800,16344560,20379614,8889549 734924 8891 NM_020365,AL136380,CH471059,AF257077,AK022399,AK024006,AK314668,AL834288,BC014234,BC018728,BC021017,BQ776018,CR457285,CR592553,CR599300,CR601681,CR602327,CR603311,CR606912,CR607414,CR617761,AW972575,BF879213,CX781577,DA162797,NG_015864,NM_001166588,W21485 EAX07015,NP_065098,CAI23129,CAI23131,CAI23132,CAI23133,EAX07011,EAX07012,EAX07013,EAX07014,EAX07016,AAF91351,BAB14027,BAB14770,BAG37225,CAD38962,AAH18728,CAG33566,Q5QP88,Q5QP91,Q9HA31,Q9NR50,CAL38485,CAL38657,NP_001160060 Hs.533549 EIF-2B|EIF2Bgamma OTTHUMP00000010265|eIF-2B GDP-GTP exchange factor subunit gamma|eukaryotic translation initiation factor 2b, subunit 3 (gamma, 58kd)|translation initiation factor eIF-2B subunit gamma protein-coding 733707 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 632563,734924,1580863 18160716,18061208,18005052,16288713,15489334,12707859,12477932,11835386,10931946,10858531,10805739,9446619,8929216,8887689,7982969,18263758,11323413,15054402,16289705,8626696,14566705,15217090,15507143,12556349,12499492,15060152,18632786,18539998,18330844,20709751,20734064,20532202,19158808,20016818 632563,734924 8890 NM_001034116,NM_015636,NM_172195,NG_009305,AC074117,AJ011307,CH471053,AB209532,AF057699,AF086520,AF112207,AF218009,AJ011305,AJ011306,AK300734,AL050109,BC001870,BC091502,CR597283,CR597984,CR599714,CR601596,CR602942,CR603027,CR614050,CR616878,CR625273,CR626662 NP_056451,NP_751945,AAY14843,CAB57304,CAB57305,EAX00587,EAX00588,EAX00589,EAX00590,EAX00591,EAX00592,BAD92769,AAQ13438,AAF17195,AAG17251,CAB57260,CAB57261,BAG62407,CAB43277,AAH01870,NP_001029288,AAH91502,Q59FC8,Q71US4,Q9HBP7,Q9UI10,Q9Y3W7 Hs.169474 DKFZp586J0119|EIF-2B|EIF2B|EIF2Bdelta eIF-2B GDP-GTP exchange factor subunit delta|eukaryotic translation initiation factor 2b|translation initiation factor eIF-2B subunit delta|translation initiation factor eIF-2b delta subunit protein-coding 731553 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 734925,1580863 11323413,15054402,16289705,8688466,15723074,8626696,14566705,15217090,15507143,12499492,15060152,18632786,18565837,18562513,18294360,18263758,20975056,17646634,17439913,17081983,16097034,16041584,15489334,15302935,14993275,14702039,14572143,12707859,12477932,12325082,12133000,11704758,11500362,10858531,10805739,10441579,9468292,9446619,17353931,19913121,20628086,16730941,20734064 734925 8893 NM_003907,AC131235,CH471052,AB208821,AK056400,AK091646,AK307347,AK310207,AL832179,BC013590,BC050476,BC053646,BI769147,CR619865,CR623820,U23028,NG_015826 NP_003898,EAW78298,EAW78299,EAW78300,EAW78301,EAW78302,BAD92058,BAC03712,AAH13590,AAC50646,Q13144,Q59HD8,ABM82409,ABM85596 Hs.283551 CACH|CLE|EIF-2B|EIF2Bepsilon|LVWM OTTHUMP00000210847|eIF-2B GDP-GTP exchange factor subunit epsilon|initiation factor eif-2be|translation initiation factor eIF-2B subunit epsilon protein-coding 1312163 EIF2C1 eukaryotic translation initiation factor 2C, 1 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4. [provided by RefSeq] 1580863,4144862 20732906,20819778,12526743,10534406,19138993,19047128,18771919,18345015,17932509,17891150,17482383,16936728,16936726,16756390,16710414,15937477,15908945,15489334,15152257,14702039,12906857,12477932,12414724,12230974,10512872,9417904,19913121,20628086,20721975,20308539,18482256,19167051,19269368,19393748,19723326,19767416,19851984,19946268,20211803 4144862 26523 NM_012199,AL139286,CH471059,AF093097,AK000326,AK001622,AK002003,AK027611,AK314148,BC063275,CR936823,U92986 NP_036331,CAI22803,CAI22804,EAX07396,AAF00068,BAG50952,BAG36835,AAH63275,Q5TA58,Q9UL18 Hs.22867 AGO1|DKFZp686M13167|EIF2C|GERP95|Q99 Golgi Endoplasmic Reticulum protein 95 kDa|OTTHUMP00000008518|argonaute 1|argonaute1|eIF-2C 1|eIF2C 1|hAgo1|protein argonaute-1|putative RNA-binding protein Q99 protein-coding 732767 EIF2C2 eukaryotic translation initiation factor 2C, 2 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. [provided by RefSeq] 1580863,4144862 17671087,19324964,19167051,19159466,19138993,19064005,19061863,19047128,18981691,18946079,18787018,18690212,18591665,18476811,18222171,18178619,17932509,17891150,17881374,17531811,17382880,17116888,16936728,16756390,16699599,16611939,16357216,16301602,15937477,15908945,15800637,15489334,15284456,14970384,12906857,12526743,12477932,12414724,12230974,11914277,17938239,15973356,16424907,19393748,19458189,19508234,19536157,19625255,19723326,19784364,19801630,19820710,19851984,19946268,20211803,20385818,20402672,20146808,20308539,20696395,20197313,20505670,14749716,17495927,10534406,17524464,18771919,20721975,20198652,20395958,20237157,20699384 4144862 27161 AI468419,NM_001164623,NM_012154,AC067931,AC107375,CH471060,CS300529,AA909234,AF121255,AY077717,BC007633,BC018727,BC125213,BC125214,BT007229 NP_001158095,NP_036286,EAW92207,EAW92208,CAK32193,AAF13034,AAL76093,AAH07633,AAH18727,AAI25214,AAP35893,Q9UKV8,AAI60104 Hs.449415 AGO2|MGC3183|Q10 PAZ Piwi domain protein|PPD|argonaute 2|argonaute2|eIF-2C 2|eIF2C 2|hAgo2|protein argonaute-2|protein slicer protein-coding 1319350 EIF2C3 eukaryotic translation initiation factor 2C, 3 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 4144862 18771919,14702039,12906857,12526743,12477932,12414724,10997877,19167051,19393748 4144862 192669 NM_177422,AL138787,AL139286,CH471059,AA251146,AK022827,AK027796,AK292870,AK302289,AK303929,BC025769,BC066888,NM_024852,BC144409,BF438817,BX104163,CR616249 NP_079128,NP_803171,CAI22268,CAI22269,CAI22801,CAI22802,EAX07394,EAX07395,BAB14262,BAB55374,BAF85559,BAG63629,BAG64857,AAH66888,Q5TA56,Q6NXU1,Q96JZ0,Q9H9G7,AAI56435,AAI72480 Hs.657659 AGO3|FLJ12765|MGC86946 argonaute 3|argonaute3|eIF-2C 3|eIF2C 3|hAgo3|protein argonaute-3 protein-coding 1312105 EIF2C4 eukaryotic translation initiation factor 2C, 4 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq] 1580863,4144862 16094384,12906857,12526743,12414724,11329013,10997877,18771919,19167051,19393748,20146808 4144862 192670 NM_017629,AL354864,AL359186,CH471059,AB046787,AK000040,AL831908,BC152450,BG186585 NP_060099,CAH73806,EAX07398,EAX07399,EAX07400,BAB13393,BAA90899,AAI52451,Q9HCK5,Q9NXV9,AAI60021,CAH71584 Hs.727595 AGO4 argonaute 4|argonaute4|eIF-2C 4|eIF2C 4|hAgo4|protein argonaute-4 protein-coding 735608 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa The translation initiation factor eIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, eIF2, and GTP. eIF2 is composed of 3 nonidentical subunits, alpha (36 kD), beta (38 kD, MIM 603908), and gamma (52 kD, MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of eIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM] 728211,1580863 11500362,16289705,1104615,12588972,11323413,2948954,19244104,19189853,19188486,19017641,18664456,18639529,18604219,18234281,18082745,17488873,17393484,17210633,17113348,16982605,16500424,16418533,16289913,16288713,16216881,16210351,15650164,15635413,15489334,15476887,15341733,15330758,15207627,15060162,14747531,12687390,12686399,12601012,12556489,12514125,12499843,12477932,12447867,12370288,12186496,11985496,11859078,11739746,11555640,11331597,10734073,10648795,10620360,10542257,10504407,10432301,9819435,9446619,9442054,9079663,8887689,8645159,8099444,8099443,8098621,7821789,2116318,1883206,1748310,1677563,1400363,17353931,17894550,20521618,17274640,17361185,19369421,19470760,19559055,19733181,19754954,19800319,19846675,20154146,20428777 728211 1965 NM_004094,AL139785,CH471061,AK297244,AK312442,BC002513,BX161521,CR598254,CR598706,CR600389,CR601355,CR604321,CR618395,D28379,J02645,U26032 NP_004085,EAW80933,EAW80934,BAG59724,BAG35351,AAH02513,CAD61953,BAA05745,AAA52373,P05198,Q53XC0,ABM83077,ABM86273 Hs.151777 EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A OTTHUMP00000218025|eIF-2-alpha|eukaryotic translation initiation factor 2 subunit 1|eukaryotic translation initiation factor 2 subunit alpha|eukaryotic translation initiation factor 2, subunit 1 (alpha ) protein-coding 1343864 EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. [provided by RefSeq] 1580863 3044606,16288713,16289705,1104615,12588972,18639529,17081983,16169070,15635413,15489334,12901717,12477932,11959995,11780052,11739746,11092890,10805739,10805737,10648795,10620360,9933616,9446619,9442054,9395514,9079663,8024572,16932749 8894 NM_003908,AF076927,AL031668,CR605247,CR611550,CR621409,CR624977,M29536,AB208966,AB451237,AB451362,AK313025,BC000461,BC000934,BC007888,BC107588,BT009795,BX648379,CR456734,CR593406,CR595813,CR599964,CR600011,CR600365,CH471077 CAB43741,NP_003899,AAD19864,AAA52383,P20042,Q3B7I9,Q59GZ3,Q6IBR8,Q96I16,ABM81931,ABM85110,EAW76284,EAW76285,EAW76286,BAD92203,BAG70051,BAG70176,BAG35860,AAH00461,AAH00934,AAH07888,AAI07589,AAP88797,CAG33015 Hs.429180 DKFZp686L18198|EIF2|EIF2B|EIF2beta|MGC8508 eIF-2-beta|eukaryotic initiation factor 2-beta|eukaryotic translation initiation factor 2 beta|eukaryotic translation initiation factor 2 subunit 2|eukaryotic translation initiation factor 2 subunit beta protein-coding 1349546 EIF2S2P eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene 319115 NG_002496,AL161670 EIF2S2P pseudo 1343874 EIF2S2P2 eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene 2 347673 NG_002696,AC007934,AC128680 bcm2636 pseudo 1352428 EIF2S2P3 eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene 3 414262 2800935 EIF2S2P4 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 4 728350 AC007405,CH471058,NG_005660 A6NK07,EAX11237 pseudo 4108858 EIF2S2P5 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 5 347675 AL390241,NG_002698 pseudo 3231911 EIF2S2P6 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 6 100129629 AP001646,NG_022982 pseudo 2881249 EIF2S2P7 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 7 647016 AC010738,NG_021500 pseudo 1346365 EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 1580863 8106381,16288713,17220478,17353931,10900014,16289705,1104615,12588972,16201836,15635413,15489334,12665801,12477932,10648795,10620360,9736774,9373149,9079663,8125298,8098621,16712791,15669143,19723899 1968 NM_001415,AC079169,AJ006932,CH471074,AB451230,AB451353,AF274932,AI133612,AK222577,AK290397,AK312247,BC011945,BC019906,BF435665,CB150474,L19161,NG_016387 NP_001406,CAA07331,EAW99010,EAW99011,EAW99012,BAG70044,BAG70167,BAD96297,BAF83086,BAG35179,AAH19906,AAA19696,P41091,Q53HK3,ABM82720,ABM85903 Hs.539684 EIF2|EIF2G|EIF2gamma|eIF-2gA eIF-2-gamma X|eIF-2gX|eukaryotic translation initiation factor 2 subunit 3|eukaryotic translation initiation factor 2 subunit gamma X|eukaryotic translation initiation factor 2G protein-coding 1316362 EIF3A eukaryotic translation initiation factor 3, subunit A 1580863 20399188,11169732,17353931,18423202,9150439,9054404,12588972,18725400,18599441,18568671,17581632,17381544,16829125,16497727,15946946,14519125,12878157,12477932,12124384,11384103,11102443,10611228,10444591,9925932,9822659,9804427,9790534,8995410,8995409,8816444,8590280,2110361,16541103,11590142,9418880,12812986,16385451,17322308,18354498,19327350,19615732,20056645,20562859,20936779 8661 AK302575,AK307610,AK309542,AU279600,BC020285,BC033769,BC054342,BC064926,BC107776,BC114429,CR604985,D50929,U58046,U78311,NM_003750,AL355598,CH471066,U58047 BAG63833,AAH33769,AAH54342,AAH64926,AAI07777,AAI14430,BAA09488,AAB41584,AAB80695,Q05BS0,Q14152,Q24JU4,Q3B770,Q6P1R0,Q7Z5T5,NP_003741,CAI14127,EAW49408,AAB41586 Hs.523299 EIF3|EIF3S10|KIAA0139|P167|TIF32|eIF3-p170|eIF3-theta|p180|p185 EIF3, p180 subunit|centrosomin homolog|cytoplasmic protein p167|eIF-3-theta|eIF3 p167|eIF3 p180|eIF3 p185|eukaryotic translation initiation factor 3 subunit 10|eukaryotic translation initiation factor 3 subunit A|eukaryotic translation initiation factor 3, subunit 10 (theta, 150/170kD)|eukaryotic translation initiation factor 3, subunit 10 (theta, 170kD)|eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa|eukaryotic translation initiation factor 3, subunit 10, 170kD protein-coding 1319125 EIF3B eukaryotic translation initiation factor 3, subunit B 1580863 11169732,14688252,8995410,12588972,17190833,17081983,15592455,15489334,15302935,14702039,14519125,12690205,12477932,11331597,9847074,9822659,9388245,8995409,8889548,7693677,16541103,16286006,15946946,17322308,17581632,18599441,19615732,20060839 8662 NM_001037283,NM_003751,AC004840,AC004971,CH236953,CH471144,AB209381,AI888128,AK093807,AK126670,AK300967,AK302058,BC001173,BC009986,BC110865,BG325094,BM556863,BQ015102,BQ045103,BQ070291,CR603885,CR603939,U62583,U78525 NP_001032360,NP_003742,AAP21880,EAL23951,EAL23952,EAW87237,EAW87238,EAW87239,EAW87240,EAW87241,BAD92618,BAG62591,BAG63448,AAH01173,AAH09986,AAI10866,AAB42010,AAC99479,P55884,Q59FS8,Q86UM1,Q96G38 Hs.371001,Hs.614155 EIF3-ETA|EIF3-P110|EIF3-P116|EIF3S9|MGC104664|MGC131875|PRT1 eIF-3-eta|eIF3 p110|eIF3 p116|eukaryotic translation initiation factor 3 subunit 9|eukaryotic translation initiation factor 3 subunit B|eukaryotic translation initiation factor 3, subunit 9 (eta, 116kD)|eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa|hPrt1|prt1 homolog protein-coding 1318894 EIF3C eukaryotic translation initiation factor 3, subunit C 1580863 8995409,12588972,17081983,16964243,16341674,16097034,16083285,15489334,15302935,15231748,15146197,14702039,14519125,12514125,12477932,10504338,10493829,9822659,8995410,16169070,16189514,15946946,16286006,19615732,19915574,17322308,17581632,18599441,21102463 8663 NM_003752,AC002544,AC145285,CH878380,U46025,U91326,AK000739,AK055366,AK130531,AK292155,AK293264,AY762099,BC000533,NM_001037808,BC001571,BC071705,BC107692,BC157849,BE780094,BF665714,BM757468,BT007335,BX648075,CA420261,CN410678,CR596433,CR598030,CR603017,CR615339,AA679705,AK299421,AK301183,AK301233,AK303790,AK304500,BC157842,NM_001199142 NP_001032897,NP_003743,AAC27426,EAW50492,EAW50493,EAW50494,EAW50495,EAW50496,AAD03462,AAC27674,BAA91352,BAG51506,BAF84844,BAG56795,AAX07826,AAH00533,AAH01571,AAH71705,AAI07693,AAI57850,AAP35999,Q3B7B9,Q99613,ABM82558,ABM85748,AAI57843,BAG61402,BAG62767,BAG62805,BAG64747,BAG65308,NP_001186071 Hs.567374,Hs.535464 EIF3CL|EIF3S8|FLJ53378|FLJ54400|FLJ54404|FLJ55450|FLJ55750|FLJ78287|MGC189737|MGC189744|eIF3-p110 cell migration-inducing protein 17|eIF3 p110|eukaryotic translation initiation factor 3 subunit 8|eukaryotic translation initiation factor 3 subunit C|eukaryotic translation initiation factor 3, subunit 8 (110kD)|eukaryotic translation initiation factor 3, subunit 8, 110kDa protein-coding 1626547 EIF3CL eukaryotic translation initiation factor 3, subunit C-like 18599441,18187866,17581632,17468741,17322308,17287340,17081983,16964243,16766523,16322461,16286006,16097034,16083285,15703437,15489334,15302935,14702039,14519125,12477932,10493829,8995409,10504338,12588972,18669648 728689 NM_001099661,AC138894 NP_001093131 Hs.535464 eIF3 p110|eIF3c|eukaryotic translation initiation factor 3 subunit 8|eukaryotic translation initiation factor 3 subunit C|eukaryotic translation initiation factor 3, subunit 8, 110kDa-like protein-coding 1352969 EIF3D eukaryotic translation initiation factor 3, subunit D Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq] 1580863 17322308,17474147,17581632,18599441,19615732,11369516,17353931,9341143,12588972,18571626,15592455,15489334,15461802,14519125,12477932,11590142,11331597,10591208,9822659,8995410,8995409 8664 BC000469,BC014912,BC080515,BC093100,BC093686,BC101477,BG718662,BT007381,CR456489,CR590905,CR592055,CR593947,CR594075,CR597661,CR598567,CR598738,CR599204,CR599437,CR599881,CR602176,CR602247,CR603468,CR604396,CR605490,CR607183,CR607944,CR612442,CR613120,CR614709,CR615269,CR615483,CR619679,CR620115,CR625660,CR626445,U54558,NM_003753,AL022313,CH471095,AK300199,AK301284,AK303884,AK312939,AW575097,BC000328 AAH00469,AAH14912,AAH80515,AAH93100,AAH93686,AAI01478,AAP36045,CAG30375,AAD03466,O15371,CAK54480,CAK54779,ABM85234,ABM82055,NP_003744,CAA18440,CAQ06703,CAQ06704,CAQ06705,CAQ06706,CAQ06707,CAQ06708,EAW60109,EAW60110,BAG61970,BAG62843,BAG64820,BAG35781,AAH00328 Hs.55682 EIF3S7|MGC126526|MGC17258|eIF3-p66|eIF3-zeta eIF-3-zeta|eIF3 p66|eukaryotic translation initiation factor 3 subunit 7|eukaryotic translation initiation factor 3 subunit D|eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa|translation initiation factor eIF3 p66 subunit protein-coding 1323023 EIF3E eukaryotic translation initiation factor 3, subunit E 20453879,14667819,17220478,17324924,17353931,9295280,12588972,17516841,17468741,17310990,16766523,16189514,15867213,15592455,15558017,15489334,15231748,15030549,14702039,14519125,12553909,12477932,12386384,12220626,11590142,11121040,11118224,10644362,10504338,9822659,9403073,8995410,8995409,8688078,16169070,12435599,16343815,17322308,17581632,18599441,19615732,18029348 3646 AC087620,AP001331,CH471060,U94174,AK124178,AK310902,AK313186,BC000734,BC005944,BC008419,BC016706,BC017887,BC021679,BG498300,CR457029,CR542275,CR595188,CR597834,CR598628,CR607803,CR608129,CR611386,CR611387,CR612349,CR613323,NM_001568,CR615385,CR617854,CR621066,CR621914,CR623723,CR625706,U54562,U62962,U85947,U94175 NP_001559,EAW91918,EAW91919,AAC51917,BAG54018,BAG36003,AAH00734,AAH08419,AAH16706,AAH17887,AAH21679,CAG33310,CAG47071,AAC51760,AAB58251,AAB88873,AAC51919,P60228,Q6IAX5,ABM83204,ABM86404 Hs.405590 EIF3-P48|EIF3S6|INT6|eIF3-p46 eIF-3 p48|eukaryotic translation initiation factor 3 subunit 6|eukaryotic translation initiation factor 3 subunit E|eukaryotic translation initiation factor 3, subunit 6 (48kD)|eukaryotic translation initiation factor 3, subunit 6 48kDa|mammary tumor-associated protein INT6|murine mammary tumor integration site 6 (oncogene homolog)|viral integration site protein INT-6 homolog protein-coding 1346432 EIF3EP eukaryotic translation initiation factor 3, subunit E pseudogene 9847074,9403073 3647 NG_001023,AC019205 EIF3EP|EIF3S6P1|INT6P1 pseudo 3362169 EIF3EP2 eukaryotic translation initiation factor 3, subunit E pseudogene 2 100132597 AC008063,NG_023025 pseudo 3051016 EIF3EP3 eukaryotic translation initiation factor 3, subunit E pseudogene 3 100462836 AC107075,NG_021590 pseudo 3516294 EIF3EP4 eukaryotic translation initiation factor 3, subunit E pseudogene 4 100422200 AC069431,NG_022232 pseudo 1314535 EIF3F eukaryotic translation initiation factor 3, subunit F 1580863 18599441,9341143,12588972,19245811,19237569,18724935,18381585,17918192,17353931,16537434,16189514,16169070,15862967,15489334,15231748,14702039,14519125,12477932,12446680,9822659,8995410,8995409,16286006,16541103,17207965,16712791,17322308,17581632,19615732,19854136,20800221 8665 NM_003754,AC116456,CH471064,AK027739,AK093511,AK095574,AK289637,AK291354,AK293826,AK297621,BC000490,BC073753,BT006894,CB141463,CD050033,CR456959,CR612791,CR619191,U94855 ADQ32743,NP_003745,EAW68637,BAG52733,BAC04577,BAF82326,BAF84043,BAG57230,BAG59997,AAH00490,AAP35540,CAG33240,AAD03467,O00303,ABM81692 Hs.516023 EIF3S5|eIF3-p47 eIF-3-epsilon|eIF3-epsilon|eukaryotic translation initiation factor 3 subunit F|eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD)|eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa protein-coding 1344484 EIF3FP eukaryotic translation initiation factor 3, subunit F pseudogene 10830953 54053 NG_000925,AP003900 EIF3FP|EIF3S5P pseudo 1605321 EIF3FP2 eukaryotic translation initiation factor 3, subunit F pseudogene 2 83880 NG_005632,AL356585 Q9BX72 IFP38 pseudo 3517377 EIF3FP3 eukaryotic translation initiation factor 3, subunit F pseudogene 3 11181995,19615732 339799 AC007250,CH471053,NG_006949 EAX00053,EAX00054,EAX00055 pseudo 1316234 EIF3G eukaryotic translation initiation factor 3, subunit G 1580863 14688252,15231747,17353931,9973622,12588972,17094969,16243297,15489334,15302935,14519125,12477932,10887144,9822659,8995410,8995409,8889549,16189514,20406461,17322308,17581632,18599441,19615732 8666 AC020931,AF092453,CH471106,AA134976,AF020833,AF094850,AK291320,AK293374,AK309944,AK315896,AK316040,AK316335,BC000733,BC008469,BE017996,BF701069,BT006889,CR457134,CR592654,CR595095,CR598702,CR608337,CR609592,CR611551,CR613864,CR616432,U96074,NM_003755,AK296377 NP_003746,AAG15396,EAW84078,AAB71866,AAG15419,BAF84009,BAH11496,BAF98787,BAH14411,BAH14706,AAH00733,AAH08469,AAP35535,CAG33415,AAC78728,O75821,Q6IAM0,ABM92233,ABM87800,BAG59051 Hs.529059 EIF3-P42|EIF3S4|eIF3-delta|eIF3-p44 eIF-3 RNA-binding subunit|eIF-3-delta|eIF3 p42|eIF3 p44|eukaryotic translation initiation factor 3 RNA-binding subunit|eukaryotic translation initiation factor 3 subunit 4|eukaryotic translation initiation factor 3 subunit G|eukaryotic translation initiation factor 3 subunit p42|eukaryotic translation initiation factor 3, subunit 4 (delta, 44kD)|eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa protein-coding 1351668 EIF3H eukaryotic translation initiation factor 3, subunit H 2289900,2289901,2289902,1580863 17043677,17322308,17581632,18029348,19060904,19615732,20437058,18599441,9341143,12588972,19204574,18544531,18372905,17353931,17081983,16652384,16344560,16189514,15489334,14997205,14702039,14578863,14519125,12812986,12477932,11733359,9822659,9373149,8995410,8995409,8125298,20659471 2289900,2289901,2289902 8667 AK222520,AK222620,AK296162,AU117206,BC000386,BC090880,BT019594,CR456906,CR590054,CR597364,CR602203,CR611008,CR612538,CR614647,CR614766,CR616809,CR617128,CR625088,U54559,NM_003756,AC023520,AF092576,AP002905,CH471060,AA902770,AK093128 BAG52660,BAD96240,BAD96340,BAG58901,AAH00386,AAH90880,AAV38401,CAG33187,AAD03465,O15372,Q53HG0,Q53HR0,Q5BKY2,Q6IB98,NP_003747,AAC84044,EAW91956,EAW91957,EAW91958,EAW91959 Hs.492599 EIF3S3|MGC102958|eIF3-gamma|eIF3-p40 eIF-3-gamma|eIF3 p40 subunit|eukaryotic translation initiation factor 3 subunit 3|eukaryotic translation initiation factor 3 subunit H|eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD)|eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD)|eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa protein-coding 1350072 EIF3I eukaryotic translation initiation factor 3, subunit I 1302501,1580863 14688252,17353931,18624398,12588972,19329541,19059401,16929481,16341674,16236267,15592455,15489334,15231747,14519125,12477932,11781097,10706629,9822659,9813058,9599024,9373149,17322308,17581632,18599441,19615732,8995410,8995409,8125298,7566158,7566156,16541103,9368056 1302501 8668 CR593343,CR600827,CR603111,CR605302,CR606359,CR607032,CR608953,CR612231,CR614021,CR616788,CR617123,CR618012,CR619600,CR620781,CR622680,U36764,U39067,AL049795,AL121991,CH471059,AF116697,AK130633,AK222483,AK225024,AK289356,AK289882,BC000413,BC003140,BC018815,BM761611,BT019597,CR592343,NM_003757 AAC50224,AAC97144,Q13347,Q53HU7,Q5TFK1,Q9P1D9,ABM82175,ABM85526,NP_003748,CAI22061,CAI22062,CAI22322,EAX07552,EAX07553,EAX07554,EAX07555,AAF71117,BAD96203,BAF82045,BAF82571,AAH00413,AAH03140,AAV38404 Hs.530096 EIF3S2|PRO2242|TRIP-1|TRIP1|eIF3-beta|eIF3-p36 TGF-beta receptor-interacting protein 1|TGFbeta receptor-interacting protein 1|eIF-3-beta|eIF3 p36|eukaryotic translation initiation factor 3 subunit 2|eukaryotic translation initiation factor 3 subunit I|eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD)|eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa|predicted protein of HQ2242 protein-coding 1626559 EIF3IP1 eukaryotic translation initiation factor 3, subunit I pseudogene 1 442720 NR_003024,AC004161,CH236947,BM551412 Hs.530096 RG208K23 pseudo 1317118 EIF3J eukaryotic translation initiation factor 3, subunit J Eukaryotic initiation factor-3 (EIF3) has a molecular mass of about 600 kD and contains 13 nonidentical protein subunits, including EIF3J. EIF3 plays a central role in binding of initiator methionyl-tRNA and mRNA to the 40S ribosomal subunit to form the 40S initiation complex (Fraser et al., 2004 [PubMed 14688252]; Fraser et al., 2007 [PubMed 17588516]).[supplied by OMIM] 1580863 14688252,9822659,12588972,17588516,17190833,17081983,16964243,15489334,14702039,14519125,12477932,11560931,10672017,8995410,8995409,16169070,15946946,17322308,18599441,19615732,20060839 8669 NM_003758,AC009996,CH471082,AF090923,AK002006,AK023388,AK300659,BC002719,CR606839,CR607662,CR616962,CR618144,CR620283,CR623136,CR624307,U97670 NP_003749,EAW77268,EAW77269,EAW77270,EAW77271,AAF24039,BAB14555,BAG62345,AAH02719,AAC78729,O75822 Hs.404056 EIF3S1|eIF3-alpha|eIF3-p35 eIF-3-alpha|eIF3 p35|eukaryotic translation initiation factor 3 subunit 1|eukaryotic translation initiation factor 3 subunit J|eukaryotic translation initiation factor 3, subunit 1 (alpha, 35kD)|eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa protein-coding 1342979 EIF3K eukaryotic translation initiation factor 3, subunit K The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM] 1580863 15327989,15180986,14519125,12477932,12006665,11042152,17353931,12588972,18577580,17081983,16189514,15489334,17207965,17322308,17581632,18599441,19615732 27335 NM_013234,AC008649,CH471126,AB019392,AF077051,AF085358,AF109355,AF315506,AK026531,AK289554,AK298635,AK301035,AK316344,AY245432,BC001031,BC007335,BC007559,BF664642 NP_037366,EAW56803,EAW56804,EAW56805,EAW56806,EAW56807,EAW56808,BAA76626,AAD27784,AAD40193,AAQ13503,AAK01365,BAF82243,BAG60810,BAG62649,BAH14715,AAP22070,AAH01031,AAH07335,AAH07559,Q9UBQ5,ADQ31730 Hs.314359 ARG134|EIF3-p28|EIF3S12|HSPC029|M9|MSTP001|PLAC-24|PLAC24|PRO1474|PTD001 eIF-3 p25|eIF-3 p28|eukaryotic translation initiation factor 3 subunit 12|eukaryotic translation initiation factor 3 subunit K|eukaryotic translation initiation factor 3, subunit 12|muscle specific|muscle-specific gene M9 protein protein-coding 1317885 EIF3L eukaryotic translation initiation factor 3, subunit L 1580863 15231747,17353931,18029348,16189514,15489334,15461802,15231748,14702039,12477932,12393749,11592397,11590142,11042152,9373149,8125298,16169070,17322308,17581632,18599441,19615732 51386 NM_016091,AL022311,CH471095,Z97630,AF077207,AF083243,AF109359,AK027429,AK056129,AK093540,AK098457,AK098713,AK129648,AK222496,AK222529,AK293629,AK298776,AK301323,AK302346,AK315533,AL357455,BC001101,BC007510,BC011448,BC029265,CR456436,CR590077,CR591951,CR593242,CR593536,CR593580,CR594883,CR594887,CR594953,CR595132,CR595777,CR595838,CR596123,CR596392,CR596649,CR597571,CR597768,CR598540,CR602486,CR602615,CR603239,CR603334,CR604937,CR606748,CR606800,CR607282,CR607712,CR608959,CR609964,CR612723,CR613610,CR613765,CR614773,CR615648,CR617210,CR618554,CR619704,CR619933,CR621358,CR626782 NP_057175,EAW60195,EAW60196,EAW60197,EAW60198,CAI21418,AAD27002,AAD39841,AAQ13507,BAG51322,BAG51631,BAG52737,BAC05310,BAD96216,BAD96249,BAG57085,BAG60918,BAG62872,BAG63674,BAG37913,AAH01101,AAH07510,AAH11448,AAH29265,CAG30322,ABW03762,Q7Z5X3,Q8N7H0,Q9Y262,CAK54466,CAK54765,ABM82768,ABM84521,ABM85956 Hs.446852 EIF3EIP|EIF3S11|EIF3S6IP|HSPC021|HSPC025|MSTP005 OTTHUMP00000198212|eIEF associated protein HSPC021|eukaryotic translation initiation factor 3 subunit 6-interacting protein|eukaryotic translation initiation factor 3 subunit E-interacting protein|eukaryotic translation initiation factor 3 subunit L|eukaryotic translation initiation factor 3, subunit 6 interacting protein|eukaryotic translation initiation factor 3, subunit E interacting protein protein-coding 1350196 EIF3LP1 eukaryotic translation initiation factor 3, subunit L pseudogene 1 319117 NG_002498,AL355838 EIF3EIPP1|EIF3S6IPP pseudo 1352708 EIF3LP2 eukaryotic translation initiation factor 3, subunit L pseudogene 2 143341 NG_001544,AL022345 EIF3EIPP2|EIF3S6IPP2 pseudo 1607072 EIF3M eukaryotic translation initiation factor 3, subunit M HFLB5 encodes a broadly expressed protein containing putative membrane fusion domains that acts as a receptor or coreceptor for entry of herpes simplex virus (HSV) (Perez et al., 2005 [PubMed 15919898]).[supplied by OMIM] 18599441,17322308,19483676,17719568,17353931,15919899,15919898,15231747,14702039,12477932,9373149,8125298,16169070,20676407,19615732,20379614 10480 NM_006360,AL078477,CH471064,AF064603,AF277183,AK001768,AK131064,AK222564,AK292139,AK300002,AK304378,AK307121,AK312512,AY769947,BC011937,BC019103,BC020458,BC051292,CR450300,CR593695,CR598759,CR608161,CR614249,DQ185042 NP_006351,EAW68217,EAW68218,AAC17108,AAK07542,BAD96284,BAF84828,BAG61821,BAG65216,BAG35413,AAX12524,AAH19103,AAH51292,CAG29296,ABD14422,Q7L2H7 Hs.502244 B5|FLJ29030|GA17|PCID1|hfl-B5 B5 receptor|PCI domain containing 1 (herpesvirus entry mediator)|PCI domain-containing protein 1|dendritic cell protein|eukaryotic translation initiation factor 3 subunit M|fetal lung protein B5 protein-coding 1354204 EIF4A1 eukaryotic translation initiation factor 4A, isoform 1 18296639,9790779,3215517,9548260,8449919,12588972,9168945,19203580,18719248,9418880,9372926,8493113,16541103,17353931,16648488,18034160,17130132,15489334,15282546,15082783,12477932,12426392,11903057,11408474,11073994,10880459,10644445,10611228,16166382,16169070,17643375,20156963 1973 AK312630,BC006210,BC009585,BC032078,BC073752,BT019880,BT019881,CR592725,CR596028,CR598002,CR598780,CR599025,CR599489,CR599522,CR600142,CR600480,CR602367,CR602368,CR603368,CR603854,CR604267,CR605316,CR605465,CR607537,CR608998,CR610019,CR612440,CR614903,CR617051,CR618674,CR619465,CR619751,CR620740,CR621238,CR621511,CR622601,CR623095,CR623167,CR623219,CR624603,CR626851,D13748,NM_001416,AC016876,AF175325,CH471108,AK130082,AK289453,AK291971,AK296664,AK297916,AK303222,AK303599,AK309274 BAG35515,AAH09585,AAH73752,AAV38683,AAV38684,BAA02897,P60842,Q59F68,Q9NZR9,ABM83970,ABM87287,NP_001407,AAF34151,EAW90166,EAW90167,EAW90168,EAW90169,BAF82142,BAF84660,BAG59261,BAG60234,BAG64309,BAG64614 Hs.129673 DDX2A|EIF-4A|EIF4A ATP-dependent RNA helicase eIF4A-1|eIF-4A-I|eIF4A-I|eukaryotic initiation factor 4A-I|eukaryotic initiation factor 4AI|eukaryotic translation initiation factor 4A, isoform 1 protein-coding 1348458 EIF4A1P eukaryotic translation initiation factor 4A, isoform 1, pseudogene 19846067,10830953 54052 NG_000924,AP001604 EIF4A1P pseudo 2881093 EIF4A1P10 eukaryotic translation initiation factor 4A1 pseudogene 10 100421533 AL136362,NG_022621 pseudo 3129632 EIF4A1P11 eukaryotic translation initiation factor 4A1 pseudogene 11 100130006 AL512326,NG_021474 pseudo 3051018 EIF4A1P12 eukaryotic translation initiation factor 4A1 pseudogene 12 100462830 AL121766,NG_022856 pseudo 3051020 EIF4A1P13 eukaryotic translation initiation factor 4A1 pseudogene 13 100462826 AC002069,NG_022543,CH236949 pseudo 2947880 EIF4A1P2 eukaryotic translation initiation factor 4A1 pseudogene 2 12815422,9847074 359792 AC010129,NG_002809 pseudo 3051022 EIF4A1P3 eukaryotic translation initiation factor 4A1 pseudogene 3 100462824 AL160271,NG_021637 pseudo 3436178 EIF4A1P4 eukaryotic translation initiation factor 4A1 pseudogene 4 728698 AC073573,NG_021721 pseudo 3184766 EIF4A1P5 eukaryotic translation initiation factor 4A1 pseudogene 5 390394 AL138706,NG_011401 pseudo 3161438 EIF4A1P6 eukaryotic translation initiation factor 4A1 pseudogene 6 390407 AL161901,CH471124,NG_022897 EAW52083 pseudo 3078516 EIF4A1P7 eukaryotic translation initiation factor 4A1 pseudogene 7 341784 AL138822,NG_011333 pseudo 3539536 EIF4A1P8 eukaryotic translation initiation factor 4A1 pseudogene 8 100289102 AL158040,NG_022188 FLJ20445 pseudo 3077883 EIF4A1P9 eukaryotic translation initiation factor 4A1 pseudogene 9 642746 AC015799,NG_022440 pseudo 1319448 EIF4A2 eukaryotic translation initiation factor 4A, isoform 2 1580863 12588972,8521730,17353931,8449919,19034380,18593934,16567544,16014927,15946665,15489334,12477932,11922617,11408474,9373149,8125298,11172724,16169070,17643375,18250159,19615732 1974 CR608605,CR608701,CR609376,CR611075,CR612348,CR618942,CR620711,CR620873,CR623203,CR623575,CR624738,D30655,S79942,AL137681,NM_001967,AC112907,CH471052,AB209021,AF208852,AK130087,AK225646,AK296279,AL117412,AL556981,AY207392,BC006469,BC012547,BC013708,BC015842,BC016295,BC039344,BC048105,BT009860,CR596580,CR599712,CR603415,CR603853,CR605467,CR606844,CR607930,CR608118 BAA06336,Q14240,Q59GT8,Q5JWW0,Q86WD0,Q96B07,Q9NZE6,ABM82664,ABM85840,NP_001958,EAW78172,EAW78173,EAW78174,EAW78175,EAW78176,EAW78177,EAW78178,BAD92258,AAF64266,BAG58988,CAI46218,AAO66460,AAH12547,AAH13708,AAH15842,AAH16295,AAH48105,AAP88862 Hs.518475,Hs.599481 BM-010|DDX2B|EIF4A|EIF4F|eIF-4A-II|eIF4A-II ATP-dependent RNA helicase eIF4A-2|OTTHUMP00000210100|eukaryotic initiation factor 4A-II|eukaryotic translation initiation factor 4A, isoform 2 protein-coding 3103083 EIF4A2P1 eukaryotic translation initiation factor 4A2 pseudogene 1 646171 AP002449,NG_022488 pseudo 1352000 EIF4A3 eukaryotic translation initiation factor 4A, isoform 3 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq] 1580863 16344560,17643375,18423201,19435936,16923391,19884259,14973490,16189514,10523622,14730019,16170325,15796914,15635413,15489334,15324660,15034551,12477932,12127692,11991638,10623621,7788527,18954305,15024115,18427545,17632064,17606899,17456004,16931718,16209946 9775 CR749455,DA667983,NM_014740,AC087741,CH471099,AK290608,BC003662,BC004386,BC011151,CA428254,CR456750,CR592216,CR592646,CR594986,CR595350,CR602794,CR605620,CR606403,CR607222,CR607328,CR609184,CR617112,CR623947,D21853,X79538 NP_055555,EAW89584,EAW89585,BAF83297,AAH03662,AAH04386,AAH11151,CAG33031,BAA04879,CAA56074,P38919 Hs.389649 DDX48|DKFZp686O16189|KIAA0111|MGC10862|NMP265|NUK-34|NUK34|eIF4AIII|hNMP265 ATP-dependent RNA helicase DDX48|ATP-dependent RNA helicase eIF4A-3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|DEAD box protein 48|NMP 265|eIF-4A-III|eIF4A-III|eukaryotic initiation factor 4A-III|eukaryotic initiation factor 4A-like NUK-34|eukaryotic translation initiation factor 4A, isoform 3|hNMP 265|nuclear matrix protein 265 protein-coding 1315118 EIF4B eukaryotic translation initiation factor 4B 1580863 20562859,10672017,10585411,9373149,8816444,8182051,8139536,8125298,6722878,16286006,2390971,12588972,15314020,18719248,17081983,16763566,15342556,15302935,15078951,15071500,14702039,12885229,12477932,11274152,14968112,16281055,17361185,19369421,19615732,2016328 1975 AC068888,CH471054,X55733,AB076839,AF119854,AK092188,AK222528,AK293731,AK299329,AK299510,AK299526,AK307496,AK310244,BC001097,BC007745,BC013994,BC047302,BC061907,BC064029,BC073139,BC073154,BC098437,BG547613,BP236621,BP243230,BU431305,BU902688,CR456958,NM_001417,CR593511,CR593935,CR595589,CR596288,CR597552,CR601603,CR623214,CR626190,CR626243,CR627377 NP_001408,EAW96657,CAA39265,BAB82380,AAF69608,BAD96248,BAG57157,BAG61335,BAG61463,BAG61475,AAH01097,AAH73139,AAH73154,AAH98437,CAG33239,CAH10474,P23588,Q6AI40,Q7Z5Y0,Q9P192 Hs.648394,Hs.702041 EIF-4B|PRO1843 eukaryotic translation initiation factor 4B protein-coding 1347862 EIF4BP eukaryotic translation initiation factor 4B pseudogene 319118 NG_002499,AL109766 EIF4BP pseudo 3302174 EIF4BP2 eukaryotic translation initiation factor 4B pseudogene 2 21088106 100129337 AL359175,NG_022968 pseudo 3418311 EIF4BP3 eukaryotic translation initiation factor 4B pseudogene 3 100128771 AL449403,NG_021667 pseudo 3129619 EIF4BP4 eukaryotic translation initiation factor 4B pseudogene 4 100130064 AC092048,NG_022954 pseudo 2881097 EIF4BP5 eukaryotic translation initiation factor 4B pseudogene 5 100421528 AC007599,NG_022504 pseudo 3255139 EIF4BP6 eukaryotic translation initiation factor 4B pseudogene 6 645579 AC079796,CH236947,NG_005592 pseudo 2816792 EIF4BP7 eukaryotic translation initiation factor 4B pseudogene 7 643873 AL589880,NG_022961 pseudo 3498763 EIF4BP8 eukaryotic translation initiation factor 4B pseudogene 8 339881 AC092908,NG_022269 pseudo 3231891 EIF4BP9 eukaryotic translation initiation factor 4B pseudogene 9 100129692 AL139276,NG_022999 pseudo 732833 EIF4E eukaryotic translation initiation factor 4E All eukaryotic cellular mRNAs are blocked at their 5-prime ends with the 7-methylguanosine cap structure, m7GpppX (where X is any nucleotide). This structure is involved in several cellular processes including enhanced translational efficiency, splicing, mRNA stability, and RNA nuclear export. EIF4E is a eukaryotic translation initiation factor involved in directing ribosomes to the cap structure of mRNAs. It is a 24-kD polypeptide that exists as both a free form and as part of a multiprotein complex termed EIF4F. The EIF4E polypeptide is the rate-limiting component of the eukaryotic translation apparatus and is involved in the mRNA-ribosome binding step of eukaryotic protein synthesis. The other subunits of EIF4F are a 50-kD polypeptide, termed EIF4A (see MIM 601102), that possesses ATPase and RNA helicase activities, and a 220-kD polypeptide, EIF4G (MIM 600495) (Rychlik et al., 1987 [PubMed 3469651]).[supplied by OMIM] 1580863 3469651,9878069,10856257,15153109,15247416,16739988,17353931,18805096,7935836,8449919,12588972,15809305,19383915,19367274,19289374,19262567,19244480,19188486,19134194,19122207,19114552,19020722,21088106,12105188,11959093,11879179,11847216,11771728,11605658,11553333,11500381,11408474,11401917,11154262,11072066,10910074,10880459,10870064,10648556,10600798,10394359,10022874,9628874,9607624,9593750,9418880,9372926,9330633,9155017,8939971,8816458,8662663,8521827,8505316,7782323,7665584,7651417,7590282,3112145,2016328,1993647,1916814,1736299,1674733,1672854,1384058,12775419,12089333,18957614,16824195,16648488,16242075,16189514,12071973,10753870,10698949,10405182,10364159,16541103,16023599,15897904,15361857,12138083,18719964,18614538,18593934,18479935,18343217,18234281,17855553,17786246,17724079,17689990,17667941,17638893,17631896,17601486,17524464,17316564,17245113,17203162,17074885,17010208,16756390,16720573,16699599,16540463,16341674,16332685,16112647,15961545,15956551,15878868,15840819,15542544,15489334,15487973,15375804,15371741,15355912,15220445,15122903,15094042,14990584,14732354,14645512,12975586,12918105,12897141,12781867,12691746,12554669,12482586,12477932,12374671,12239292,12189553,12186496,12169454,12167712,12151318,18789325,20359850,10772338,14558943,14673156,16271312,16281055,17254965,18250159,19261348,19440045,19483468,19556253,19560264,19603014,19615732,19776122,19850923,19850929,20053821,20379614,20655307,20537983,20224576,20421305,20427534 1977 NM_001968,NM_001130679,NM_001130678,AC019131,AC093836,CH471057,CS060531,AK300982,AV708571,BC012611,BC035166,BC043226,BC107715,BM849222,CA419184,CR600733,CR603932,CR606387,DC388666,M15353,CR623172,HC742040,HI923841,HI927571 NP_001959,NP_001124151,NP_001124150,EAX06077,EAX06078,EAX06079,EAX06080,EAX06081,CAI79364,BAH13387,AAH12611,AAH35166,AAH43226,AAI07716,AAC13647,P06730,Q32Q75,ABM81654,ABM84829,CBL95069,CBY65608,CBY65610 Hs.249718 CBP|EIF4E1|EIF4EL1|EIF4F|MGC111573 OTTHUMP00000219703|OTTHUMP00000219704|OTTHUMP00000219705|eIF-4E|eIF-4F 25 kDa subunit|eukaryotic translation initiation factor 4E|eukaryotic translation initiation factor 4E-like 1|mRNA cap-binding protein protein-coding 1601810 EIF4E1B eukaryotic translation initiation factor 4E family member 1B 16344560,16191198,15372022,14702039,8889548 253314 NM_001099408,AC091934,AK094270,BM709255,DA689940,DR008159,DR731203 NP_001092878,A6NMX2 Hs.448362 FLJ36951 OTTHUMP00000223378|OTTHUMP00000223380|eukaryotic translation initiation factor 4E type 1B protein-coding 1348644 EIF4E2 eukaryotic translation initiation factor 4E family member 2 1298632 19060904,19615732,20379614,9582349,15094042,17353931,17369309,17368478,17289916,16189514,15489334,15153109,14702039,14623119,12477932,11042152,9653160,21079520 1298632 9470 NM_004846,AC092165,AC093383,CH471063,AB209519,AF038957,AF047695,AF068117,AK022518,AK303802,BC000360,BC005392,BC005874,BC021226,BC021690,CB994873,CR621280,W80980 NP_004837,AAY24105,EAW71007,EAW71008,EAW71009,EAW71010,BAD92756,AAC39871,AAC18565,AAC19374,BAG51083,BAG64756,AAH05392,AAH05874,AAH21226,AAH21690,O60573,Q53RG0,Q59FE1 Hs.292026,Hs.700929 4E-LP|4EHP|EIF4EL3|IF4e OTTHUMP00000203681|OTTHUMP00000203683|OTTHUMP00000203684|OTTHUMP00000203685|OTTHUMP00000203687|eIF-4E type 2|eIF4E type 2|eIF4E-like cap-binding protein|eIF4E-like protein 4E-LP|eukaryotic translation initiation factor 4E homologous protein|eukaryotic translation initiation factor 4E member 2|eukaryotic translation initiation factor 4E type 2|eukaryotic translation initiation factor 4E-like 3|eukaryotic translation initiation factor 4e member 2|mRNA cap-binding protein 4EHP|mRNA cap-binding protein type 3 protein-coding 1351027 EIF4E2P1 eukaryotic translation initiation factor 4E family member 2 pseudogene 1 128770 NG_005202,AL078634 EIF4EL4|dJ1049G11.3 eukaryotic translation initiation factor 4e member 2 pseudogene 1 pseudo 1348241 EIF4E3 eukaryotic translation initiation factor 4E family member 3 EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM] 16344560,15153109,12477932 317649 BC068443,BX648727,DA227887,DA394405,DN990553,DR159502,NM_173359,NM_001134649,NM_001134650,NM_001134651,AC096970,AC097634,AC134770,CH471055,AK126999,AK313656,AL161983,BC022303,BC031289 AAH31289,AAH68443,Q8N5X7,NP_775495,NP_001128121,NP_001128122,NP_001128123,EAW65503,EAW65504,BAG54418,BAG36410 Hs.581355 MGC39820|MGC86971 OTTHUMP00000213525|OTTHUMP00000213527|eIF-4E type 3|eIF-4E3|eIF4E type 3|eIF4E-3|eukaryotic translation initiation factor 4E member 3|eukaryotic translation initiation factor 4E type 3|eukaryotic translation initiation factor 4e member 3 protein-coding 1353500 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq] 2308795,1625616,1580863 16983702,16873412,16824195,16715128,16652388,16648488,16271312,16189514,16098202,15542544,15489334,15178440,15153109,15094042,14507920,12912989,12820960,12759354,12665801,12665511,12618431,12604610,12588975,12477932,12271141,12151318,12105188,12080086,11909977,11865047,11847216,11777913,11691836,11605658,11553333,11438723,11280764,11146653,11114166,11069026,10942774,10779345,10405182,10364159,10198256,10092805,9806882,9628874,9465032,9405468,9344920,9092573,8975712,8957083,8816458,8521827,8083223,12150925,7935836,15809305,19603014,19533653,19367274,19360336,19336517,19271249,19244480,19211763,19107520,19036825,18810319,18708753,18701920,18668138,18660489,18442140,18439897,18384376,18337562,18280804,17724476,17699757,17653084,17604271,17601486,17353931,17316564,17200342,17114181,17081983,20304964,21067588,7651417,18922789,18957614,16242075,12071973,10753870,10698949,16837165,16798736,15767663,12747827,12150926,16899564,15854902,10971657,10608806,10022874,15467718,20532202,10772338,14673156,16098514,16109716,16169070,17254965,19428047,19429661,19541645,19574449,19648884,19834456,19850923,20090955,20133758,20609351 2308795,1625616 1978 NM_004095,AP006545,CH471080,AB044548,AK312011,BC004459,BC058073,BF964628,BT007162,CR456769,L36055 NP_004086,EAW63341,EAW63342,BAB18650,BAG34949,AAH04459,AAH58073,AAP35826,CAG33050,AAA62269,Q13541,ABM92187,ABM84657 Hs.411641 4E-BP1|4EBP1|BP-1|MGC4316|PHAS-I eIF4E-binding protein 1|eukaryotic translation initiation factor 4E-binding protein 1|phosphorylated heat- and acid-stable protein regulated by insulin 1 protein-coding 1348355 EIF4EBP1P eukaryotic translation initiation factor 4E binding protein 1 pseudogene 326295 NG_002547,AL161747 pseudo 1321948 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq] 1580863 18789325,15153109,19244480,17316564,16271312,15489334,14702039,14507920,12477932,11865047,11847216,11069026,10092805,9531283,9465032,9381973,9344920,8975712,8939971,7935836,7651417,12151318,20424163,19913121,20628086,20628624,16385451 1979 AC022532,CH471083,AK001936,AK057643,AK313724,BC005057,BC015007,BC050633,BG717474,BT007317,CR542240,CR610579,CR611424,CR627373,L36056,NM_004096,GM704530 EAW54400,EAW54401,EAW54402,BAG36466,AAH05057,AAH50633,AAP35981,CAG47036,AAA62270,Q13542,Q6FG68,ABM84031,ABM87376,NP_004087,CAT01881 Hs.621200,Hs.705686,Hs.643279 4EBP2|PHASII 4E-BP2|eIF4E-binding protein 2|eukaryotic translation initiation factor 4E-binding protein 2|phosphorylated, heat and acid stable regulated by insulin protein II protein-coding 1350854 EIF4EBP2P eukaryotic translation initiation factor 4E binding protein 2 pseudogene 170510 NG_001034,AL031681 dJ862K6.3 pseudo 1347749 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 This gene encodes a member of the EIF4EBP family which derives it name from proteins that bind to eukaryotic initiation factor 4E and that prevent its assembly into EIF4F. Co-transcription of this gene and the neighboring upstream gene (MASK) generates a transcript (MASK-BP3) which encodes a fusion protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq] 1580863 15153109,9593750,17316564,16271312,16189514,15489334,14557257,14507920,19615732,12482586,12477932,11865047,21088106 8637 NM_003732,AC011399,CH471062,AF038869,BC010881,BC069293,BC073751 NP_003723,EAW62056,AAC39761,AAH10881,AAH69293,AAH73751,O60516 Hs.594084 4E-BP3|4EBP3 eIF4E-binding protein 3|eukaryotic initiation factor 4E-binding protein 3|eukaryotic translation initiation factor 4E-binding protein 3 protein-coding 1320332 EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16343815,18029348,19850929,10856257,19060904,18343217,17567994,16713569,16699599,15489334,15461802,15345747,14702039,14651998,12477932,16344560,15840819,16189514,16157702 56478 NM_019843,NM_001164501,NM_001164502,AL096701,CH471095,AA609351,AF240775,AK025254,AK074768,AK130061,AK299136,AK314636,BC012734,BC032941,CR456386,CR601163,DA336484,DQ656044,BC033028 CAM14699,CAQ08084,NP_062817,NP_001157973,NP_001157974,CAI12877,CAI12878,CAI12879,CAI12880,EAW59977,EAW59978,EAW59979,AAF81693,BAB15092,BAC11194,BAG61188,BAG37198,AAH12734,AAH32941,AAH33028,CAG30272,Q6PJR2,Q9NRA8,CAK54376,CAK54675,ABM83407,ABM86618 Hs.517559 4E-T|Clast4|FLJ21601|FLJ26551 2610509L04Rik|OTTHUMP00000063277|eIF4E transporter|eIF4E-transporter|eukaryotic translation initiation factor 4E transporter protein-coding 1346321 EIF4EP1 eukaryotic translation initiation factor 4E pseudogene 1 9468520,1916814 1980 NG_002658,AL109935 EIF4EL2|dJ1022P6.3 pseudo 1314591 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 The protein encoded by this gene is a component of the protein complex EIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure, and recruitment of mRNA to the ribosome. Alternative splicing results in five transcript variants encoding four distinct isoforms. [provided by RefSeq] 16720573,10970864,10996799,12054647,14701818,15713657,8961935,9372926,8449919,15314020,9857202,19525934,19203580,19114555,18799579,18614538,18593934,18426977,18296639,17601486,17290396,17195095,17130132,17081983,16982693,16964243,16766523,16698552,16412378,16344560,16281055,16156639,15961545,15885108,15755734,15592455,15452223,15361857,15314025,15302935,15234964,15231748,15220445,15193258,15128869,15047801,14702039,14592777,12581158,12505164,12477932,12239292,12086624,12052860,11866104,11408474,11340157,11331597,11154262,10880459,10872469,10859165,10600798,10205060,9878069,9755181,9418880,9139875,9002667,8889548,8521827,8396129,7935836,7651417,7601469,1429670,14610163,12682023,12054764,11606767,18573886,16236269,16010989,12149653,16541103,16648488,10753870,17353931,12897141,11821405,15897904,10523622,12071973,15153109,16169070,16513844,16556936,18250159,19615732,19648179,19769989,19850929,19956697,20028737,20053821,20398343 1981 NM_198241,NM_198244,NM_198242,NM_182917,NM_004953,AC078797,AF004836,CH471052,AB210013,AF002815,AF002816,AF104913,AF281070,AJ001046,AK096719,AK128378,AK131407,AK226160,AK294567,AK299763,AK308319,AL832754,AY082886,BC007788,BC010688,BC065256,BC082764,BC140892,BC140896,BT007282,BU176883,BU683097,BU944064,BX647812,CR597527,CR614210,CR622993,CR625406,D12686,DA456156,DB088474,BM475154,BQ011010,CR980540,CX165113,DC347118,NM_001194946,NM_001194947,NG_016850 NP_937884,NP_937887,NP_937885,NP_886553,NP_004944,AAC78444,EAW78257,EAW78258,EAW78259,EAW78260,EAW78261,EAW78262,EAW78263,EAW78264,EAW78265,EAW78266,EAW78267,EAW78268,BAE06095,AAC78442,AAC78443,AAC82471,AAM69365,CAA04500,BAD18554,BAG57762,BAG61651,AAL92872,AAH07788,AAI40893,AAP35946,CAI46013,BAA02185,O95065,Q04637,Q4LE58,Q96I65,AAI40897,NP_001181875,NP_001181876 Hs.433750 DKFZp686A1451|EIF-4G1|EIF4F|EIF4G|EIF4GI|P220|eIF-4G 1|eIF-4G1|p220 EIF4-gamma|OTTHUMP00000210577|OTTHUMP00000210586|OTTHUMP00000210587|OTTHUMP00000210588|OTTHUMP00000210595|OTTHUMP00000210602|OTTHUMP00000210603|eIF-4-gamma 1|eucaryotic translation initiation factor 4G|eukaryotic translation initiation factor 4 gamma 1 protein-coding 1313238 EIF4G2 eukaryotic translation initiation factor 4 gamma, 2 Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq] 1580863 15302935,20544972,16166382,17353931,11943866,9032289,18722383,18491231,18450493,17237356,17195095,16932749,16410684,16344560,16289705,15718103,15489334,15361857,15016848,15231748,14702039,14507913,12703993,12665801,12505164,12477932,11511540,11331597,11175261,11172724,10611228,10394359,9878069,9373149,9372926,9049310,9027506,8125298,9418880,19615732,19769989,20057060 1982 NM_001042559,NM_001418,AC116535,CH471064,AB063323,AB209267,AI362365,AK123338,AK223548,AK302886,AK310387,AK310738,AY513274,BC014930,BC018746,BC018975,BC039851,BC043149,BC065276,BC111415,BC111548,BX647799,CR598756,CR611226,CR614729,CR616787,DB072494,DB272352,U73824,U76111,X89713,AB073654,DB231980,NM_001172705 NP_001036024,NP_001409,EAW68552,EAW68553,EAW68554,EAW68555,BAB93515,BAD92504,BAD97268,BAG64064,AAT08027,AAH14930,AAH18746,AAH18975,AAH39851,AAH43149,AAH65276,AAI11416,AAI11549,AAB49973,AAC51166,CAA61857,P78344,Q2TU89,Q59G42,BAE45728,NP_001166176 Hs.183684 AAG1|DAP5|FLJ41344|NAT1|P97|p97 DAP-5|aging-associated protein 1|death-associated protein 5|eIF-4-gamma 2|eIF-4G 2|eIF4G 2|eukaryotic translation initiation factor 4 gamma 2|eukaryotic translation initiation factor 4G-like 1 protein-coding 1322792 EIF4G3 eukaryotic translation initiation factor 4 gamma, 3 1580863 9418880,15361857,17353931,17081983,16964243,15489334,15016848,14507913,12975586,12663812,12477932,11172724,10872469,10737800,10022874,9878069,9857202,9373149,8125298,15146197,16344560,19615732,20379614 8672 NM_003760,AL031005,AL358392,AL606477,AL627311,AL672037,CH471134,AB209119,AF012072,AK225489,AK294883,AK302087,AK302873,AK310195,BC030578,BC072413,BC094683,BC136643,BC144335,BE159364,Z34918,BF084093,CN402454,DB042721,DB096818,NM_001198801,NM_001198802,NM_001198803,HI574178 NP_003751,CAI12154,CAI12155,CAI12156,CAI12534,CAI12536,CAI14553,CAI14554,CAI14555,CAI16194,EAW94954,EAW94955,EAW94956,BAD92356,AAC02903,BAG57978,BAG63474,BAG64053,AAH30578,AAH94683,AAI36644,CAA84397,O43432,Q504Z1,Q59GJ0,Q5SWD0,NP_001185730,NP_001185731,NP_001185732,CBX47578 Hs.467084 eIF-4G 3|eIF4G 3|eIF4GII OTTHUMP00000002722|eIF-4-gamma 3|eIF-4-gamma II|eukaryotic translation initiation factor 4 gamma 3 protein-coding 1347903 EIF4H eukaryotic translation initiation factor 4H This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580597,1580863 19369421,19847924,10585411,7584028,7584026,8812460,19203580,9516461,12588972,18719248,18448541,16189514,16094384,16014927,15592455,15489334,15078951,12853948,12690205,12665801,12477932,11418588,11003705,20549515 1580597 7458 NM_022170,NM_031992,NG_008869,AC005057,AC005081,AF045555,CH471200,AK290676,AK297651,AK314749,BC010021,BC021214,BC066928,CR593131,CR595117,CR595248,CR595546,CR599580,CR599953,CR602647,CR608535,CR610962,CR611374,CR614031,CR615480,CR617014,CR621128,CR621172,D26068,CR623691 NP_071496,NP_114381,AAS07439,AAS07440,AAS07403,AAC04859,AAF75557,EAW69615,EAW69616,EAW69617,EAW69618,EAW69619,BAF83365,BAG60018,AAH10021,AAH21214,AAH66928,BAA05063,Q15056,Q75MT8,Q75MU1,Q75MU2,ABM82850,ABM86037,ABM86038 Hs.520943 KIAA0038|WBSCR1|WSCR1 Williams-Beuren syndrome chromosome region 1|eIF-4H|eukaryotic translation initiation factor 4H|williams-Beuren syndrome chromosomal region 1 protein|williams-beuren syndrome chromosome region 1 protein-coding 736122 EIF5 eukaryotic translation initiation factor 5 1580863 17207965,20562859,8663286,17081983,16781736,16584190,16227438,15489334,14702039,12569173,12477932,11861906,11331597,11230166,11092890,10982835,10805737,9973622,9395514 1983 NM_183004,AL138976,CH471061,AK026933,AK027240,AK074470,AK293712,AL080102,BC000106,BC007728,BC015630,BC032866,BC041083,BC107884,BF979642,BI459720,BX429104,BX537367,NM_001969,CR456712,CR601975,CR604880,CR612239,CR620084,CR627002,U49436 CAD97610,NP_001960,NP_892116,EAW81808,EAW81809,EAW81810,EAW81811,BAB15593,BAG57144,CAB45711,AAH07728,AAH15630,AAH32866,AAI07885,ADQ32772,CAG32993,AAC50572,P55010,Q05DF3,Q32Q19,Q6IBU0,ABM84408,ACE87541,ACE86854 Hs.433702 EIF-5A eIF-5|eukaryotic initiation factor 5 (eif-5)|eukaryotic translation initiation factor 5 protein-coding 1317562 EIF5A eukaryotic translation initiation factor 5A 15303967,9285100,15371445,1850732,14622290,17187778,9465063,12210765,10381392,16452303,8596953,7759117,19379712,19160416,18067580,17213197,17008552,16987817,16916647,16842744,16522190,16519677,16371467,15489334,15231747,12894223,12788913,12687616,12562768,12477932,11870779,11790298,11742107,11238447,11161802,10944119,10229683,9442029,9373149,9285095,8253832,8125298,7971969,7929297,7622067,7578077,7545941,3095320,1900436,1286667,16354571,16712791,19998337,2492279,19825182,20232312 1984 AAB29229 NM_001970,NM_001143761,NM_001143762,AC026954,CH471108,U17969,AF087992,AF376057,AK222585,AK292615,AY129319,AY129320,AY129321,AY129322,BC000751,BC001832,BC030160,BC080196,BC085015,BC107779,NM_001143760,BG479628,CB111036,CR595155,CR609459,CR622789,M23419 NP_001137232,NP_001961,NP_001137233,NP_001137234,EAW90219,EAW90220,EAW90221,EAW90222,AAA86989,AAL40917,BAF85304,AAN17514,AAN17515,AAN17516,AAN17517,AAN17518,AAH00751,AAH01832,AAH30160,AAH80196,AAH85015,AAI07780,AAA58453,AAB29229,P63241,Q8WXQ9,ABM83199,ABM86400 Hs.534314 EIF-5A|EIF5A1|MGC104255|MGC99547|eIF5AI eIF-4D|eIF-5A-1|eIF-5A1|eukaryotic initiation factor 5A|eukaryotic translation initiation factor 5A-1|rev-binding factor protein-coding 1314674 EIF5A2 eukaryotic translation initiation factor 5A2 1580863 19298601,19155439,19054548,17949776,17876542,16916647,16519677,16189514,16169419,15635413,15489334,15205331,12477932,11325856,14622290,16452303,11161802,20112425 56648 NM_020390,AC061708,AF293386,AF293387,CH471052,AK311962,AY205258,AY205259,AY205260,AY205261,BC034420,BC036072 NP_065123,AAG23176,EAW78501,BAG34902,AAO18676,AAO18677,AAO18678,AAO18679,AAH36072,Q9GZV4,ABM81891,ABM85064 Hs.164144 EIF-5A2|eIF5AII OTTHUMP00000213744|OTTHUMP00000213745|eIF-5A-2|eukaryotic initiation factor 5A|eukaryotic translation initiation factor 5A-2 protein-coding 1352580 EIF5AL1 eukaryotic translation initiation factor 5A-like 1 16916647,16519677,15489334,12477932,11742107,10944119,8253832,7759117,7622067,7545941,3095320,2492279,1286667 143244 NM_001099692,AC068139,AL133481,S72024,BC070048 NP_001093162,AAD14095,AAH70048,Q6IS14 Hs.104825 EIF5AP1|bA342M3.3 eIF-5A-1-like|eIF-5A1-like|eukaryotic initiation factor 5A isoform 1-like|eukaryotic translation initiation factor 5A pseudogene 1|eukaryotic translation initiation factor 5A-1-like protein-coding 1343057 EIF5AL2 eukaryotic translation initiation factor 5A-like 2 414248 1345697 EIF5AL3 eukaryotic translation initiation factor 5A-like 3 642592 NG_006529,AL359195,AL513174 pseudo 1353172 EIF5AP1 eukaryotic translation initiation factor 5A pseudogene 1 16916647,16519677,15489334,11742107,10944119,8253832,7759117,7622067,7545941,3095320,2492279,1286667 1985 NG_000859,AC068139,AL133481,S72024 AAD14095 pseudo 1350217 EIF5AP2 eukaryotic translation initiation factor 5A pseudogene 2 7759117,7545941 1986 NG_002746,AC021593,S72038 pseudo 1343249 EIF5AP3 eukaryotic translation initiation factor 5A pseudogene 3 7759117,7545941 1987 NG_002725,AC011489,S72026 pseudo 1353401 EIF5B eukaryotic translation initiation factor 5B Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq] 1580863 12569173,8621719,20562859,10432305,10200264,18572216,17568775,17161026,17081983,16964243,16097034,15302935,14702039,12514125,12477932,11699879,9872452 9669 CH471127,AB018284,AF078035,AJ006412,AJ006776,AK001386,AK308175,AK308176,AL133563,BC006970,BC022260,BC032639,BX485839,CR604527,CR613918,CR617158,NM_015904,AC018690,AC079447 AAX93258,EAX01864,EAX01865,EAX01866,EAX01867,BAA34461,AAD16006,CAA07018,CAB44357,BAG50898,CAB63717,AAH06970,AAH22260,AAH32639,O60841,Q05CQ1,Q8N5A0,NP_056988,AAY24313 Hs.158688 DKFZp434I036|FLJ10524|IF2|KIAA0741 eIF-5B|eukaryotic translation initiation factor 5B|translation initiation factor IF-2|translation initiation factor IF2 protein-coding 1313362 EIF6 eukaryotic translation initiation factor 6 Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 15231747,17353931,9374518,18391951,17569113,17507929,16530192,16169070,15635413,15592455,15489334,15122657,14654845,12917340,12477932,11790298,11780052,11290417,11042152,10348637,10085284,9740680,9653160,9405604,10906324,15946946,20546612,18327211,20585627 3692 NM_002212,NM_181468,AF289541,CH471077,CS072464,AB062289,AF022229,AF047433,AF401207,AK296076,AK314969,AL537456,BC001119,BC011845,BC019305,BC095465,BG334381,CR456764,CR592531,CR598892,NM_181466,CR599682,CR602132,CR607452,CR608963,CR619745,Y11435,AL121753,NG_023238 NP_852131,NP_002203,NP_852133,AAK39426,EAW76219,EAW76220,EAW76221,CAI93602,BAB93472,AAB97735,AAC39897,BAG58832,BAG37470,AAH01119,AAH11845,AAH19305,CAG33045,CAA72243,P56537,ABM83518,ABM86737,CAX12723,CAX12724,CAX12725 Hs.654848 2|CAB|EIF3A|ITGB4BP|b|b(2)gcn|eIF-6|gcn|p27(BBP)|p27BBP B4 integrin interactor|b(2)GCN homolog|eIF-6|eukaryotic translation initiation factor 3A|eukaryotic translation initiation factor 6|p27 beta-4 integrin-binding protein|p27(BBP) protein-coding 1344071 EJM1 epilepsy, juvenile myoclonic 1 1988 1349631 EJM2 epilepsy, juvenile myoclonic 2 9259280 50715 1345242 EKV erythrokeratodermia variabilis 9843209 1989 1312386 ELAC1 elaC homolog 1 (E. coli) 1580863 18573253,15489334,14702039,12711671,12477932,11401430,11175785,9373149,8125298 55520 NM_018696,AC087687,CH471096,AB029151,AF308695,AI870985,AK024822,AK223507,AK310911,BC014624,CR616451 NP_061166,EAW62983,EAW62984,BAA96799,AAG24917,BAB15021,BAD97227,AAH14624,Q53EY2,Q9H777,ABM83711,ABM87031 Hs.657360 D29|FLJ59261 RNase Z 1|deleted in Ma29|elaC homolog protein 1|ribonuclease Z 1|tRNA 3 endonuclease 1|tRNA 3' processing endoribonuclease|tRNA Z (short form)|tRNase Z 1|tRNase ZS|zinc phosphodiesterase ELAC protein 1 protein-coding 1342597 ELAC2 elaC homolog 2 (E. coli) 17353931,18767027,18375959,17145810,17081983,16636667,16114055,15824169,15714208,15593091,15489334,15368467,14719475,14702039,14625808,14504198,12949798,12783937,12711671,12700765,12569551,12552947,12522685,12515253,12477932,12384782,12373607,11522646,11507049,11431329,11281413,11254449,11254448,11175785,10986046,8889548,16169070,20565774,18421255,19555350,19751732,20086112,20119870,20231859,20877624 60528 CB241821,CR457261,CR597306,CR620004,DB455960,BC046924,NM_018127,AC005277,AF304369,AF304371,CH471108,AF304370,AK001392,AK074244,AK094012,AK094333,AK094687,AK124838,AK125030,AK298397,AK300011,AK304589,BC001939,BC004158,AA706335,DC394013,DC411088,NG_015808,NM_001165962,NM_173717 CAG33542,Q9BQ52,Q9HAS7,NP_060597,AAG24440,AAG24439,EAW89961,EAW89962,EAW89963,EAW89964,AAG24441,BAG52861,BAG52912,BAC85964,BAC86026,BAG60631,BAG61827,BAG65377,AAH01939,AAH04158,NP_001159434,NP_776065 Hs.434232 ELC2|FLJ10530|FLJ36693|FLJ42848|HPC2 OTTHUMP00000064670|RNase Z 2|elaC homolog protein 2|heredity prostate cancer protein 2|putative prostate cancer susceptibility protein HPC2/ELAC2|ribonuclease Z 2|tRNA 3 endonuclease 2|tRNase Z (long form)|tRNase Z 2|zinc phosphodiesterase ELAC protein 2 2293362,2293416,2301719 PRSTS280_H,PRSTS282_H,PRSTS419_H protein-coding 1317469 ELANE elastase, neutrophil expressed Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq] 1598891,1580863 20354035,14705961,12393522,15140022,12223522,14730209,15010259,11928814,12114510,19590686,19542452,19415009,19197381,19180801,19132232,18980523,18799464,18710383,18669870,18485588,18403643,18399311,18295791,18278188,18211966,18178964,18043239,18028488,17998887,17853021,17785837,17761833,17690184,17622939,17436313,17412886,17397908,17395013,17187068,17088257,17023068,16690986,16670064,16624642,16551967,16321984,16282197,16244764,16148149,16127146,16079102,15941909,15892999,15718918,15657182,15614130,15601827,15595387,15489334,15245434,15161642,15131125,15059607,14962902,14688365,14673143,14636558,14587040,12934194,12893759,12887060,12876407,12853121,12782302,12778173,12771009,12745650,12700588,12538645,12531874,12526812,12483111,12477932,12444202,12190311,12183836,12117418,12091371,12083479,12068293,12042033,12020136,11948122,11846296,11675333,11520773,11389039,11001877,10924364,10867014,10859319,10702419,10581030,10512713,10471600,10102815,9565572,9242537,9124593,9111002,8864963,8718849,8463250,8011628,7713495,7521069,6980881,3640709,3550808,3479752,3427074,3422232,3391280,2911584,2902087,2822677,2164060,1859409,1558967,1518849,12933574,20033193,20627279,20411049,20453419,2775493,2681419,2538548,2501794,2462434,2437112,2322278,2318847,20582973,10978167,11907569,18194283,19251947,19307610,19362143,19506020,19620298,19620402,19763368,19775295,19789190,20007580,20179351,20346360,20423453,20634941,20828556,20111696,20376727,20974816 1598891 1991 NM_001972,NG_009627,AC004799,AC112706,AY596461,CH471139,M20199,M20200,M20201,M20202,M20203,Y00477,BC074816,BC074817,BI254663,D00187,J03545,M27783,M34379,X05875 NP_001963,AAS89303,EAW69589,AAA36359,CAA68537,AAH74816,AAH74817,BAA00128,AAA52378,AAA35792,AAA36173,CAA29299,CAA29300,P08246 Hs.99863 ELA2|GE|HLE|HNE|NE|PMN-E|SCN1 PMN elastase|bone marrow serine protease|elastase 2, neutrophil|elastase-2|granulocyte-derived elastase|human leukocyte elastase|leukocyte elastase|medullasin|neutrophil elastase|polymorphonuclear elastase protein-coding 1318543 ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) The protein encoded by this gene is a member of the ELAVL protein family. This encoded protein contains 3 RNA-binding domains and binds cis-acting AU-rich elements. It destabilizes mRNAs and thereby regulates gene expression. [provided by RefSeq] 1580863 20421296,20587520,19913121,20628086,20675370,20696395,15231747,10660597,9003489,19574298,19420963,19322201,19289500,19281587,19255485,19252527,19221430,19151756,19114552,19109971,19106619,19088191,19056930,19010922,19009247,18991684,18986664,18831511,18824170,18769129,18705402,18650551,18648668,18644987,18641687,18593881,18579691,18544151,18505733,18498284,18490444,18463097,18449856,18408768,18317686,18285462,18279945,18202756,18180367,18095988,18094611,18027256,17967866,17878526,17626845,17599736,17581403,17548472,17534146,17531241,17517897,17392515,17317627,17237228,17178712,17132932,17081983,16990552,16935932,16912169,16890199,16820934,16788138,16581801,16494882,16484227,16455966,16289864,16135804,16109718,15914670,15824116,15635413,15514971,15489334,15371446,15342649,15328200,15257295,15175342,15037768,14981256,14981248,14715706,14702039,14562043,14559993,14530362,14517288,14517280,12933794,12855701,12821781,12730239,12477932,12431987,12242302,12237300,12011088,11971974,11834731,11729309,11018049,10848602,10629032,10079173,20739277,20951677,19728080,20724828,8889548,8626503,15861128,10964780,17643375,19029303,19520857,19528229,19647848,19648294,19671677,19805546,19875930,19917608,19931428,20018854,20086103,20102719,20219472,20219773,20351266,20353946,20370918,20459669,20332213,20692039 1994 NM_001419,AC008975,AC010336,CH471139,AI375368,AK022334,AK096659,AK301013,AL713686,AW139417,BC003376,BM664469,BM696191,BT009793,BU542524,BX647856,CR595470,U38175,W37464 NP_001410,EAW68949,EAW68950,BAG62630,AAH03376,AAP88795,AAB41913,Q15717,ABW03681,ABW03336 Hs.184492,Hs.713744 ELAV1|HUR|Hua|MelG ELAV-like protein 1|Hu antigen R|embryonic lethal, abnormal vision, drosophila, homolog-like 1|hu-antigen R protein-coding 1314763 ELAVL2 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) 1580863 15164053,12477932,10848602,8907704,8812435,7972035,8158249,18607064,15671036,15489334,12384599,17289661,19197348,20211142,20818722 1993 NM_004432,AL161628,AL445623,CH471071,AB209294,BC030692,BC035004,BC042393,NG_016425,NM_001171195,NM_001171197 NP_004423,CAC22160,CAI13376,CAI13377,CAI13378,EAW58581,EAW58582,EAW58583,EAW58584,EAW58585,EAW58586,BAD92531,AAH30692,Q12926,ABM82543,ABM85735,ABW03448,NP_001164666,NP_001164668 Hs.166109 HEL-N1|HELN1|HUB ELAV-like neuronal protein 1|ELAV-like protein 2|OTTHUMP00000021157|OTTHUMP00000021158|OTTHUMP00000021159|hu-antigen B|nervous system-specific RNA-binding protein Hel-N1 protein-coding 1343972 ELAVL3 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 16189514,15489334,12477932,12209604,10848602,10079173,9799595,7511893,10710437,12384599 1995 CR623347,D26158,L26405,NM_032281,AC008481,AL512714,CH471106,AI199100,AY034002,AY036909,BC011875,BC014144,BC080533,BI117592,CR607440,NM_001420 BAA21838,AAA58677,Q14576,Q9H024,Q96J71,NP_001411,NP_115657,CAC21655,EAW84220,EAW84221,AAK57545,AAK67714,AAH11875 Hs.1701 DKFZp547J036|HUC|HUCL|MGC20653|PLE21 ELAV-like protein 3|Hu antigen C|hu-antigen C|paraneoplastic cerebellar degeneration-associated antigen|paraneoplastic limbic encephalitis antigen 21 protein-coding 1348119 ELAVL4 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) 1580863 12388589,12235292,12209604,12034726,11803489,11175903,9065557,8222755,8069866,2166930,1415481,1655278,10848602,10348344,19410329,19252764,18607064,18587682,18493953,18218628,17577668,17234598,17230446,16710414,16508003,16278682,16189514,15827745,15735910,15358174,14512168,12477932,12468554,10710437,12384599 1996 AK298817,AK298902,AK309653,AW950943,AY033995,AY033996,AY033997,AY033998,BC036071,CR595508,CR613627,CR625475,DB472040,DC351092,M62843,S73887,NM_001144777,NM_001144776,NM_001144775,NM_021952,NM_001144774,AL583843,AL592182,AL645730,AL731870,CH471059,AK297338 BAH12876,BAH12899,AAK57538,AAK57539,AAK57540,AAK57541,AAH36071,AAA58396,AAD14142,P26378,Q16234,NP_001138248,NP_001138247,NP_068771,NP_001138246,CAI14634,CAI14635,CAI14636,CAI14637,CAI14638,CAI14639,CAI15788,CAI15789,CAI15790,CAI15791,CAI15792,CAI15793,EAX06841,EAX06842,EAX06843,EAX06844,EAX06845,BAH12553,NP_001138249 Hs.213050 HUD|PNEM ELAV-like protein 4|Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4|OTTHUMP00000009609|OTTHUMP00000009613|OTTHUMP00000009614|hu-antigen D|paraneoplastic encephalomyelitis antigen HuD protein-coding 734281 ELF1 E74-like factor 1 (ets domain transcription factor) This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 21044949,10207087,1527846,14970218,18029348,18714041,18378679,18314487,17652178,16964243,16464244,15566516,15302935,14702039,12727645,12477932,11884456,11210123,10976766,10377039,9668064,9524226,8756667,8493578,7862168,1545787,9094628,20600580,18692240,19822898,20379614 1997 NM_172373,NM_001145353,AL157877,CH471075,AK095466,AK304289,BC010575,BC030507,BQ722965,BX640798,CR607135,CR615244,DC418141,M82882 NP_758961,NP_001138825,CAI13220,CAI13221,EAX08640,EAX08641,BAG53061,BAG65147,AAH30507,CAE45881,P32519,Q5T9E7,Q6MZZ4,ABM82635,ABM85812 Hs.135646 ETS-related transcription factor Elf-1|OTTHUMP00000018310 protein-coding 1321579 ELF2 E74-like factor 2 (ets domain transcription factor) 14970218,8756667,18029348,18754678,18544453,17368566,15489334,15302935,12477932,12447867,11967990,10207087,9001422,17290288 1998 NM_201999,NM_006874,AC024032,AC093602,AF256221,CH471056,AF256222,AF256223,AK301307,AK303782,AK316455,BC034951,BQ221720,CR603502,CR620999,DQ359746,U43188,U43189,BC065025 AAH34951,NP_973728,NP_006865,EAX05123,EAX05124,EAX05125,EAX05126,AAF67195,AAF67196,BAH13456,BAH14050,BAH14826,AAH65025,ABD15131,AAB37759,AAB37760,AAB37761,Q15723,ABM81796,ABM84952 Hs.634040 EU32|NERF|NERF-1A|NERF-1B|NERF-1a,b|NERF-2 ETS-related transcription factor Elf-2|OTTHUMP00000164540|OTTHUMP00000220051|OTTHUMP00000220053|ets family transcription factor ELF2C|new Ets-related factor protein-coding 1626593 ELF2P1 E74-like factor 2 pseudogene 1 9001422 100101917 NG_006555,Z70273 pseudo 1626562 ELF2P2 E74-like factor 2 pseudogene 2 9001422 260335 NG_002340,AF256220,AL512329 pseudo 1626561 ELF2P3 E74-like factor 2 pseudogene 3 9001422 260336 NG_002341,AL772337 FLJ35866 pseudo 1626543 ELF2P4 E74-like factor 2 pseudogene 4 9001422 644935 NG_006556,AC080125 pseudo 1321734 ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 9336459,10391676,12624109,15075319,9234700,10773884,14715662,19074849,18475289,18302674,18044710,17491012,17353931,17148437,17060315,16344560,15169914,14997048,14767472,14582709,12477932,12414801,12242338,12119107,12032832,11036073,10821850,10064583,9417054,9395241,9373149,8889548,8125298,9129154,1651322,1651323,18029348 1999 BM976796,BQ023145,BX093212,BX537368,CR457106,CR597744,CR598418,CR609083,CR612631,CV570925,CV570991,DA591406,U66894,U73843,U73844,U97156,NM_004433,AF110184,AL691482,BN000001,CH471067,AF016295,AF017307,AF517841,AK225446,AK309265,AK310814,AK312273,BC003569,NM_001114309 CAD97611,CAG33387,AAB58075,AAB65823,AAB65824,AAC51884,P78545,Q5SR36,ABM81617,ABM84800,NP_001107781,NP_004424,AAD45237,CAI14960,CAI14961,CAD29859,EAW91388,EAW91389,EAW91390,EAW91391,AAB96586,AAB67238,AAM70481,BAG35203,AAH03569 Hs.67928 EPR-1|ERT|ESE-1|ESX E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific)|E74-like factor 3 (ets domain transcription factor)|ETS-related transcription factor Elf-3|OTTHUMP00000034052|OTTHUMP00000034053|epithelial-restricted with serine box|epithelium-restricted Ets protein ESX|epithelium-specific Ets transcription factor 1|ets domain transcription factor, serine box (epithelial-specific) protein-coding 1351734 ELF4 E74-like factor 4 (ets domain transcription factor) ELF4 is a member of the ETS (see MIM 164720) gene family of transcription factors (Aryee et al., 1998 [PubMed 9524226]). ELF4 is involved in inducing cell cycle arrest in naive CD8+ T cells (Yamada et al., 2009 [PubMed 19412182]).[supplied by OMIM] 10207087,14970218,14976184,8895518,9524226,14625302,19412182,16581786,16303180,15772651,15489334,15146197,15013761,12477932,12151102,15907486,19336002 2000 NM_001127197,NM_001421,AL136450,CH471107,Z81363,AF000670,AK314972,BC017194,BC114355,BC114356,CD364651,CN314421,CR596374,DN999740,U32645,NG_016388 NP_001120669,NP_001412,CAI42882,CAI42883,EAX11813,EAX11814,CAI42371,CAI42372,AAC17452,AAH17194,AAB53693,Q99607,ABM83160,ABM86361 Hs.271940 ELFR|MEF ETS-related transcription factor Elf-4|myeloid Elf-1-like factor protein-coding 1314143 ELF5 E74-like factor 5 (ets domain transcription factor) The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 20354077,16704374,16554811,16229011,16189514,15987600,15655699,15489334,14702039,12477932,12359648,10506207,9570133,20211142,9840936,16713569 2001 NM_001422,NM_198381,AL137224,CH471064,CQ783285,AF049703,AF115402,AF115403,AK074633,AK075197,AK290808,AK290817,AK312537,BC029743,BG260616,DQ123839 NP_001413,NP_938195,EAW68168,EAW68169,CAF86494,AAC79755,AAD22960,AAD22961,BAC11101,BAF83497,BAF83506,BAG35436,AAH29743,AAZ98848,Q9UKW6,ABM82063,ABM85242 Hs.11713 ESE2 ETS-related transcription factor Elf-5|epithelium-restricted ESE-1-related Ets factor|epithelium-specific Ets transcription factor 2 protein-coding 1642766 ELFN1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 392617 DR001365,NM_001128636,AC074389,CH236953,CH471144,AI962473,BF434584 P0C7U0,NP_001122108,EAW87217 Hs.42896 extracellular leucine-rich repeat and fibronectin type III containing 1|extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1 protein-coding 1606182 ELFN2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 18029348,17081983,16344560,12477932,11572484,10591208 114794 NM_052906,AL049850,CH471095,Z94160,AB067491,BC032082,BC032083,BC033336,BC041596,DA398675 NP_443138,EAW60159,CAI22122,BAB67797,Q5R3F8,AAI72260,AAI72561 Hs.660812,Hs.716143 KIAA1904|LRRC62|dJ63G5.3 OTTHUMP00000197827|dJ63G5.3 (putative Leucine rich protein)|extracellular leucine-rich repeat and fibronectin type III containing 2|extracellular leucine-rich repeat and fibronectin type III domain-containing protein 2|leucine rich repeat containing 62|leucine-rich repeat and fibronectin type-III domain-containing protein 6|leucine-rich repeat-containing protein 62 protein-coding 1349633 ELK1 ELK1, member of ETS oncogene family This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,10431817,20727996,9155018,17499043,17296730,17203534,17146445,17074809,16490785,16297876,15920481,15808854,15782123,15772901,15772651,15576363,15489334,15449318,15351693,15210726,14992729,14702039,12947314,12887893,12665513,12660819,12514134,12477932,12473660,12409226,12242287,12077333,12023815,11313879,11279280,10997882,10947953,10742173,10716983,10231026,10022839,9795224,9696047,9644975,9570133,9235954,9130707,9010223,8941362,8889548,8798570,8622669,8586671,8575773,8548291,8417810,8386592,8208531,7927346,7889942,7540136,2539641,1630903,1547942,15638726,11726657,12594221,15806162,9020136,16291755,16533805,14970218,19342628,19302787,19133234,19013529,18434015,18316600,18247360,18172009,17967787,17898074,17804646,17724016,17591614,10606656,15790681,16169070,17036045,18768922,19546342,19687146,20147408,20337593,20362031,20126313,15276183,20211142,20224786 2002 NM_005229,NM_001114123,NG_009222,AB016194,AF080615,AF080616,AL009172,CH471164,AB016193,AF000672,AK093966,AK312984,BC048296,BC056150,CB852603,CR542252,CR598341,M25269,AB209047 NP_005220,NP_001107595,BAA36617,AAC82466,CAA15659,EAW59321,EAW59322,EAW59323,BAA36616,AAD00862,BAC04259,BAG35821,AAH48296,AAH56150,CAG47048,AAA52384,P19419,Q59GR2,Q6FG56,Q86SR6,Q8N9S0,BAD92284 Hs.181128 ETS domain-containing protein Elk-1|ETS-like gene 1 protein-coding 4144514 ELK1P1 ELK1, member of ETS oncogene family pseudogene 1 647102 AC073968,CH236960,NG_006972 EAL23742 pseudo 1351818 ELK2P1 ELK2, member of ETS oncogene family, pseudogene 1 12477932,10231026,9795224,8575773,16344560 2003 NG_001019,AF080617,AL928769,DB095165 Hs.510635 ELK2|ELK2.1|ELK2P1|MGC39713 pseudo 1343176 ELK2P2 ELK2, member of ETS oncogene family, pseudogene 2 10231026,9795224 9995 NG_001019,AF080618,AL928742 ELK2.2|ELK2P2 pseudo 1317143 ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) The protein encoded by this gene is a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. [provided by RefSeq] 1580863 17474147,12933792,7851904,7958835,18029348,18832796,18316589,15489334,15302935,12477932,11042694,10490644,10369679,9644975,9570133,8918463,7540136,15580297,20427288,10022839,20379614 2004 AAB34628 NM_005230,AC008149,CH471054,AK312694,BC017371,CR542251,Z36715 NP_005221,EAW97561,EAW97562,EAW97563,EAW97564,EAW97565,BAG35573,AAH17371,CAG47047,CAA85309,AAB34628,P41970,ABM83880,ABM87200 Hs.46523 ERP|NET|SAP2 ETS domain-containing protein Elk-3|ETS-domain protein|ETS-related protein ERP|ETS-related protein NET|SAP-2|SRF accessory protein 2|serum response factor accessory protein 2 protein-coding 1321444 ELK4 ELK4, ETS-domain protein (SRF accessory protein 1) This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq] 1580863 1339307,7851904,19136943,18469865,12477932,11846562,11406578,10473620,10022839,9734357,9644975,9570133,9235954,8575773,8293474,7566098,7540136,9271374,11313879,9130707,18029348,9020136,17200232 2005 NM_001973,NM_021795,AC096533,CH471067,AI002107,AI005122,BC040145,BC063676,BE041598,BE675475,BE676052,BF433322,BX346360,CR623173,M85164,M85165 NP_001964,NP_068567,EAW91570,EAW91571,EAW91572,EAW91573,EAW91574,AAH40145,AAH63676,AAA03632,AAA03631,P28324,Q8IXL1,ABZ91998 Hs.497520,Hs.602654 SAP1 ETS domain-containing protein Elk-4|ETS-domain protein|SAP-1|SRF accessory protein 1|serum response factor accessory protein 1 protein-coding 1322410 ELL elongation factor RNA polymerase II 1580863 9556611,9373149,9268387,8125298,8016121,7991593,12659632,8596958,17353931,17395368,12676794,16086288,16006523,15489334,12773566,12686606,12477932,12446457,11463848,11418481,11230166,10995463,10490622,10419521,10358050,9765201,19447890,19615732,20166137 8178 NM_006532,AC005387,AC010335,CH471106,AB208794,AF157562,AK225481,AK293105,AK309878,AL136771,BC010010,BC033673,BC049195,BC064558,BC108256,CR606202,U16282,BI458899 NP_006523,AAC28752,EAW84707,EAW84708,BAD92031,AAD45322,BAF85794,CAB66705,AAH49195,AAA57120,P55199,Q59HG4,Q75MS0 Hs.515260 C19orf17|DKFZp434I1916|ELL1|MEN|Men ELL gene (11-19 lysine-rich leukemia gene)|RNA polymerase II elongation factor ELL|eleven-nineteen lysine-rich leukemia protein protein-coding 1319566 ELL2 elongation factor, RNA polymerase II, 2 1580863 19749764,9108030,15489334,12477932,12446457,11752456,11418481,20379614 22936 NM_012081,AC008592,CH471084,U88629,AB209343,AK296870,AK297956,AK300310,AV652801,BC028412,BC151238,BX538289 NP_036213,EAW96060,AAC51232,BAD92580,BAG59433,BAG60269,BAG62063,AAH28412,CAD98084,O00472,Q59FW6,Q7Z656,ABM82462,ABM85651 Hs.192221,Hs.708710 ELL-related RNA polymerase II, elongation factor|RNA polymerase II elongation factor ELL2 protein-coding 4889635 ELL2P1 elongation factor, RNA polymerase II, 2 pseudogene 1 646270 AL138899,NG_006626 pseudo 4889646 ELL2P2 elongation factor, RNA polymerase II, 2 pseudogene 2 100421143 AC098866,NG_025163 pseudo 4889752 ELL2P4 elongation factor, RNA polymerase II, 2 pseudogene 4 100128690 AL109913,NG_022711 pseudo 1320517 ELL3 elongation factor RNA polymerase II-like 3 17207965,10882741,15489334,14702039,12477932,16169070 80237 NM_025165,AC018512,CH471082,CS072259,AF276512,AI955716,AK026290,AK057528,AK126384,BC006548,BC019293,BC052599,BC062349,CR457358,CR599724,CR604506,CR606239 NP_079441,EAW77237,EAW77238,CAI93397,AAG13463,BAB15432,BAG51928,BAG54320,AAH06548,AAH19293,ADQ32210,CAG33639,Q9HB65 Hs.706346 FLJ22637 RNA polymerase II elongation factor ELL3 protein-coding 1317811 ELMO1 engulfment and cell motility 1 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. Similarity to a C. elegans protein suggests that this protein may function in apoptosis and in cell migration. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 17207965,20826100,16495483,20958313,12029088,12879077,15247908,11595183,14737186,19183347,18768751,18095154,17671188,17653210,17173036,16344560,16213822,15952790,15793258,15723800,15700267,15489334,14702039,14638695,12829596,12690205,12477932,12134158,11230166,9179496,14645848,15620647,11256614,19176441,19651817,19929986,20031603,20190752,20299368,20379614 9844 NM_014800,NM_130442,NM_001039459,AC007349,AC007444,AC009196,AC078843,AC078844,AC083861,CH236951,CH471073,AF398885,AK001084,AK126565,AK291784,AK296253,AK301151,AK314349,AL136787,BC003051,BC064635,BC077074,BC114341,CR591268,CR613823,D87457,DB156714 ADQ32677,NP_055615,NP_569709,NP_001034548,EAL23978,EAL23979,EAW94075,EAW94076,EAW94077,EAW94078,EAW94079,AAL14466,BAC86597,BAF84473,BAG58968,BAG62742,CAB66721,AAH03051,AAH64635,AAH77074,AAI14342,BAA13397,Q92556 Hs.656638 CED-12|CED12|ELMO-1|KIAA0281|MGC126406 OTTHUMP00000128236|ced-12 homolog 1|engulfment and cell motility 1 (ced-12 homolog, c. elegans)|engulfment and cell motility protein 1|protein ced-12 homolog protein-coding 1314023 ELMO2 engulfment and cell motility 2 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 18602983,16381901,15951569,15809229,15592455,15489336,15489334,14702039,12879077,12477932,11780052,11703939,11595183,11347906,11230166,11076863 63916 NM_133171,AL031686,AL133227,CH471077,AB058737,AF417861,AK021718,AK022731,AK023103,AK057032,AK092796,AK293861,AK299318,AK302710,AL713765,AL833406,AY947527,BC000143,BC014207,BC021079,NM_182764,BC036483,BX648819,AF398886 NP_877496,NP_573403,CAI40556,CAI40559,CAI40560,CAI40561,CAI40562,CAI40563,EAW75739,EAW75743,EAW75745,EAW75746,BAB47463,AAL38512,BAB13879,BAB14210,BAB14405,BAB71350,BAH11614,BAG61327,BAG63932,AAX21788,AAH00143,Q5BLP5,Q5JVZ4,Q5JVZ5,Q5JVZ8,Q5JW01,Q7Z5G9,Q96JJ3,AAL14467,CAL38605 Hs.210469 CED-12|CED12|ELMO-2|FLJ11656|KIAA1834 OTTHUMP00000031764|OTTHUMP00000031765|PH domain protein CED12A|ced-12 homolog 2|engulfment and cell motility 2 (ced-12 homolog, c. elegans)|engulfment and cell motility protein 2|hCed-12A|protein ced-12 homolog A protein-coding 3184213 ELMO2P1 engulfment and cell motility 2 pseudogene 1 729894 AC116165,NG_022962 pseudo 1312348 ELMO3 engulfment and cell motility 3 The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq] 1580863 15489334,14702039,12477932,11595183,20127720,16344560 79767 NM_024712,AC040160,CH471092,AI955864,AK023886,AK056923,AK300976,BC015524,BC034410,DA872517 NP_078988,EAW83097,EAW83098,BAB14712,BAG62598,AAH15524,AAH34410,Q96BJ8,ABM82258,ABM85441 Hs.377416 CED-12|CED12|ELMO-3|FLJ13824 OTTHUMP00000164937|ced-12 homolog 3|engulfment and cell motility 3 (ced-12 homolog, c. elegans)|engulfment and cell motility protein 3 protein-coding 1349956 ELMOD1 ELMO/CED-12 domain containing 1 737633,1580863 19913121,20628086,20677014,20379614,17452337,16189514,15489334,14702039,12477932,20585627 737633 55531 NM_018712,NM_001130037,AP000889,AP002353,CH471065,AK054794,AK297351,AK303689,AL359601,BC028725,DC375486 NP_061182,NP_001123509,EAW67091,EAW67092,BAG59800,BAG64679,CAB94879,AAH28725,Q8N336 Hs.495779 DKFZp547C176 ELMO domain containing 1|ELMO domain-containing protein 1 protein-coding 1352550 ELMOD2 ELMO/CED-12 domain containing 2 737633,1580863 16773575,15489334,12477932,17903293,17452337,14702039,16344560,19966137 737633 255520 DA797584,NG_027825,NM_153702,AC093671,CH471056,AK312800,BC015168,BX648349,BX648843,CR596650,CR600920,AK093087,AK095357,BX499240,DB278612,FB342967,FB711090 NP_714913,EAX05096,EAX05097,BAG35659,AAH15168,Q8IZ81,CAR81484,CAS91500 Hs.450105 9830169G11Rik|FLJ35768|FLJ38038|MGC10084 ELMO domain containing 2|ELMO domain-containing protein 2|elmo domain containing 2 protein-coding 1353080 ELMOD3 ELMO/CED-12 domain containing 3 737633,1580863 16344560,15815621,15498874,15489334,14702039,12477932,17452337,17207965 737633 84173 AK092920,AK307252,AL713718,BC001942,BC010991,BC018666,BC054504,BC112324,DA294897,DQ256726,DQ256727,EB385493,AF258573,AC062037,CH471053,NM_032213,NM_001135021,NM_001135022,NM_001135023 AAG23776,CAD28512,AAH01942,AAH10991,AAH18666,AAI12325,ABB69067,ABB69068,Q96FG2,NP_001128495,AAY24127,EAW99521,EAW99522,EAW99523,EAW99524,EAW99525,EAW99526,EAW99527,EAW99528,EAW99529,NP_115589,NP_001128493,NP_001128494,ADQ32247 Hs.269990 FLJ21977|FLJ35601|LST3|MGC111036|RBED1|RBM29 C330008I15Rik|ELMO domain-containing protein 3|OTTHUMP00000202954|OTTHUMP00000202956|OTTHUMP00000202957|OTTHUMP00000204481|RNA binding motif and ELMO domain 1|RNA binding motif and ELMO/CED-12 domain 1|RNA binding motif protein 29|RNA-binding motif and ELMO domain-containing protein 1|RNA-binding motif protein 29|RNA-binding protein 29|liver-specific organic anion transporter 3TM12|organic anion transporter LST-3b|rna binding motif and elmo domain 1 protein-coding 736469 ELN elastin This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580326,1580327,1580328,1580157,1580330,1601026,1580863 8761465,8689688,8541862,8132745,8125298,7693128,6912069,6150137,3840328,3171221,3039501,3038460,2831431,2722804,2093478,2014796,1372742,8812460,20347403,8096434,9873040,9607766,9580666,19282817,19194475,19167375,19144321,19143680,19056482,19054052,19029017,18842294,18450438,18441095,18376131,18348261,18326737,18307085,18155129,17999374,17929969,17912483,17727474,17724138,17693470,17672902,17626896,17591890,17567153,17287949,17255108,17227755,17139263,17037986,16982955,16899711,16878986,16829682,16820942,16691586,16675961,16611674,16574921,16381901,16374472,16303743,16161116,16085695,16081882,16078697,16042404,15961300,15944607,15925490,15890991,15890261,15866738,15860743,15774842,15748998,15721581,15698546,15681698,15654955,15550396,15537639,15489336,15489334,15381555,15342556,15297630,15233806,15218274,15134831,15036271,15009703,14702039,14500713,12853948,12690215,12679320,12618961,12555228,12477932,12102453,12029074,12016585,11911775,11867344,11809415,11735026,11723132,11711520,11230166,11175284,11076863,11071917,11003705,10942104,10825173,10544250,10536372,10471600,10190538,10190324,9819363,9745729,9373149,9215671,9215670,8947836,19913121,20628086,20673868,20694560,20457133,11805834,16251195,19357152,19478233,19570982,19578796,19593948,19603496,19617625,19627254,19682489,19701759,19755752,19844261,19889633,19948975,20051886,20346360,20452482,20877624,20844573,20847053 1580326,1580327,1580328,1580157,1580330,1601026 2006 NM_001081754,NM_001081753,NM_000501,NM_001081755,NM_001081752,NG_009261,AC005056,CH471200,CQ796435,J04821,M16983,M17265,M17266,M17267,M17268,M17269,M17270,M17271,M17272,M17273,M17274,M17275,M17276,M17277,M17278,M17279,M17280,M17281,M17282,U62292,U63721,U77846,U93037,X15603,AB208942,AF086171,AK075494,AK075554,AK092232,AK094138,AK095990,AK122731,AK130894,AK225659,AK304845,BC035570,BC050379,BC065566,BP284909,BX537939,BX538199,CR590609,CR607863,M24782,M26867,M36860,X52896,AK125511 NP_001075223,NP_001075222,NP_000492,NP_001075224,NP_001075221,AAS07435,EAW69624,EAW69625,EAW69626,EAW69627,EAW69628,EAW69629,EAW69630,EAW69631,EAW69632,EAW69633,EAW69634,EAW69635,EAW69636,CAG26527,AAA52379,AAC98395,AAC98393,AAC98394,AAB17544,AAC13884,AAC99789,AAB65620,AAB65621,CAA33627,BAD92179,BAC11651,BAC11696,BAG52500,BAG52824,BAG53188,BAC85506,BAC86188,BAG65586,AAH65566,CAD97910,CAD98065,AAA53190,AAA52382,P15502,Q59H17,Q6ZUN2,Q8N2G0,Q8NBI4,Q9UME9,Q9UMK5,CAL38219 Hs.647061 FLJ38671|FLJ43523|SVAS|WBS|WS OTTHUMP00000211820|OTTHUMP00000211857|OTTHUMP00000211858|OTTHUMP00000211859|OTTHUMP00000211862|OTTHUMP00000211864|OTTHUMP00000211865|elastin|elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)|tropoelastin protein-coding 1348670 ELNL1 elastin-like 1 7956370 2007 1354404 ELNR1 elastin receptor 1, 67kDa 2008 1601839 ELOF1 elongation factor 1 homolog (S. cerevisiae) 16730941,16260625,16189514,15489334,14702039,12477932,16169070,15867431,17207965 84337 NM_032377,AC008481,AC009001,CH471106,AK001171,AK097850,BC007516,BG424379,BG718042,CR593556 NP_115753,EAW84230,EAW84231,AAH07516,P60002,ACE87714,ACE87028,ADQ32410 Hs.631633 ELF1 elongation factor 1 homolog (ELF1, S. cerevisiae)|transcription elongation factor 1 homolog protein-coding 1349015 ELOVL1 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 1580863 8944226,17353931,15489334,14702039,12477932,10810093,9373149,8125298,20166112,20937905 64834 NM_022821,AL139289,CH471059,AF151846,AF336793,AK001653,AK130174,AK222498,AK298163,BC000618,BC095456,BU180063,BU786323,CR590301,CR592943,CR596193,CR598270,CR600285,CR600869,CR606895,CR608264,CR616210,CR617225,CR620696,CR622911,CR623988,CR624095 NP_073732,CAB92758,EAX07100,AAD34083,AAL71993,BAA91813,BAD96218,BAG60436,AAH00618,AAH95456,Q502X7,Q9BW60 Hs.25597 CGI-88|Ssc1 elongation of very long chain fatty acids protein 1 protein-coding 1318475 ELOVL2 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 1580863 17207965,19148276,18660489,17583696,16564093,14702039,12477932,12371743,20037589,20379614,8944226 54898 NM_017770,AL121955,CH471087,AJ420504,AK000341,AL080199,BC050278,BC060809,CR610373 ADQ33026,NP_060240,CAI22076,EAW55290,EAW55291,EAW55292,BAA91096,AAH50278,AAH60809,Q9NXB9 Hs.656436 FLJ20334|SSC2 elongation of very long chain fatty acids protein 2 protein-coding 1316352 ELOVL3 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3 ELOVL3 plays a role in fatty acid chain elongation and formation of neutral lipids required for skin barrier function (Westerberg et al., 2004 [PubMed 14581464]).[supplied by OMIM] 1580863 15489334,14581464,12477932,10429212,17583696,8944226,17207965 83401 NM_152310,AF292387,AL160011,CH471066,BC034344 NP_689523,AAG17875,CAH71623,EAW49711,AAH34344,Q9HB03,ADQ31862 Hs.302130 CIG-30|CIG30|MGC21435 cold-inducible glycoprotein of 30 kDa|elongation of very long chain fatty acids protein 3 protein-coding 1313772 ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq] 1580863,1598895 16885922,16476896,16364203,16036915,15930014,15489334,15028284,14702039,14574404,12967813,12824221,12592226,12477932,11581213,11474659,10218695,8002834,8002833,20801516,20096366,17207965,11138005,17356513,17210851,17000705,16344560,20388345,20522523,8944226 1598895 6785 NM_022726,NG_009108,AF279654,AL132875,AL133475,CH471051,AF277094,AJ420478,AK055277,AK310625,AK312511,AY037298,BC038506,DA122864 ADQ32338,NP_073563,AAG47669,CAI23374,CAI20320,EAW48701,AAG47668,BAB70895,BAG35412,AAK68639,AAH38506,Q9GZR5,ABM82155 Hs.101915 ADMD|CT118|FLJ17667|FLJ92876|STGD2|STGD3 Stargardt disease 3 (autosomal dominant)|cancer/testis antigen 118|elongation of very long chain fatty acids protein 4 protein-coding 1353049 ELOVL5 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) ELOVL5 plays a role in elongation of long-chain polyunsaturated fatty acids (Leonard et al., 2000 [PubMed 10970790]).[supplied by OMIM] 1302211,1580863 18660489,16303743,16273301,15489334,14702039,14574404,12477932,11230166,10970790,9110174,8619474,8944226,20363506,20379614,17207965 1302211 60481 NM_021814,AL034374,CH471081,CQ782857,AB209798,AF052129,AF111849,AF231981,AF338241,AK074748,AK074889,AK125098,AK299674,AK302948,AL136939,BC009838,BC017270,BC067123,BC074503,CR597148,CR599163 NP_068586,CAI21530,CAI21531,EAX04413,EAX04414,EAX04415,EAX04416,EAX04417,EAX04418,EAX04419,EAX04420,EAX04421,EAX04422,CAF86084,BAD93035,AAF16688,AAF70631,AAM00193,BAC11178,BAC11270,BAG54141,BAG61584,BAG64104,CAB66873,AAH17270,AAH67123,Q9NYP7,ADQ31919 Hs.725124 HELO1|RP3-483K16.1|dJ483K16.1 elongation of very long chain fatty acids protein 5|fatty acid elongase 1|homolog of yeast long chain polyunsaturated fatty acid elongatio|homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2 protein-coding 1345221 ELOVL6 ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM] 1302212,1580863 18660489,16344560,15815621,15489334,15342556,14702039,12477932,11567032,8944226,8889549,20732626,19259639,20332099 1302212 79071 NM_024090,NM_001130721,AC093770,CH471057,AK027031,AK074813,AK074882,BC001305,BE539688,BP278053,BP314858,DB368351,H65618,AC004050 NP_076995,NP_001124193,AAY40928,EAX06258,EAX06259,EAX06260,BAB15632,BAC11225,AAH01305,Q9H5J4 Hs.412939,Hs.652828 FACE|FAE|FLJ23378|LCE|MGC5487 OTTHUMP00000221927|OTTHUMP00000222111|elongation of very long chain fatty acids protein 6|fatty acid elongase 2|fatty acyl-CoA elongase|hELO2|long-chain fatty-acyl elongase protein-coding 1321534 ELOVL7 ELOVL family member 7, elongation of long chain fatty acids (yeast) 16344560,12477932,8944226,19826053,20379614 79993 NM_001104558,NM_024930,AC104113,AC109133,AC109579,CH471123,AB181393,AI769834,AK027216,AL137506,BC094792,BC130310,BC130312,BC144257,DA247166 NP_001098028,NP_079206,EAW55001,EAW55002,BAD93238,BAB15697,CAB70777,AAI30311,AAI30313,A1L3X0,ADR83129 Hs.274256 FLJ23563 OTTHUMP00000221723|OTTHUMP00000221724|OTTHUMP00000221725|OTTHUMP00000221726|elongation of very long chain fatty acids protein 7 protein-coding 1315022 ELP2 elongation protein 2 homolog (S. cerevisiae) 11714725,15489334,14702039,12477932,11818576,10954736,9373149,8125298,18029348,19834596 55250 NM_018255,AC023043,AC091060,CH471088,AF332505,AF403223,AK001741,AK022709,AK222791,AK293051,AK300201,AK302062,BC007098,BC009211,BC032553,CR457269,CR602393 NP_060725,EAX01373,EAX01374,EAX01375,EAX01376,AAK97355,AAQ03093,BAA91874,BAB14193,BAD96511,BAF85740,BAG61972,BAG63452,AAH09211,AAH32553,CAG33550,Q6IA86 Hs.8739 FLJ10879|SHINC-2|STATIP1|StIP STAT3-interacting protein 1|elongator complex protein 2|elongator protein 2|signal transducer and activator of transcription 3 interacting protein 1|signal transducer and activator of transcription interacting protein 1|stIP1 protein-coding 1316051 ELP3 elongation protein 3 homolog (S. cerevisiae) ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM] 1580863 11714725,11818576,19185337,18996918,17558451,16381901,16344560,15761153,15489336,14702039,12477932,11256614,11230166,11076863,9373149,8889548,8543574,8125298,15616580,19429107,20036197,19834596,20877300,20626565 55140 CR618264,DA150994,DA787116,NM_018091,AC019031,AC021678,CH471080,AK001284,AK022626,AK223047,AK293424,AK295574,AK296475,AK298265,AK302140,AK315985,AK316053,AL834273,BC001240,BM663362,BX648011 Q9H9T3,CAL37511,NP_060561,EAW63528,EAW63529,BAA91600,BAB14138,BAD96767,BAG56930,BAG58473,BAG59116,BAG60529,BAG63513,BAH14356,BAH14424,CAD38948,AAH01240,CAH10573 Hs.491336 FLJ10422|KAT9 elongator complex protein 3|hELP3 protein-coding 1352223 ELP4 elongation protein 4 homolog (S. cerevisiae) This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq] 19834596,17577209,19172991,11714725,11818576,16381901,15489336,15473317,12477932,11889558,11435442,11230166,11076863 26610 AC108456,NM_019040,AC131571,AJ276005,AL390767,CH471064,Z83307,AK000505,AK304885,AL136677,BC012514,CR604657,CR610736,CR611102 NP_061913,CAC08200,CAC10331,EAW68237,EAW68238,CAM13056,BAA91212,BAG65622,CAB66612,AAH12514,Q96EB1,Q9H4R8,CAL38337,CAL38732,ABM82394,ABM85577 Hs.175534 C11orf19|FLJ20498|PAX6NEB|PAXNEB|dJ68P15A.1 OTTHUMP00000183581|PAX6 neighbor gene protein|elongator complex protein 4|hELP4 protein-coding 1354263 ELSPBP1 epididymal sperm binding protein 1 The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq] 20195544,17910069,17307309,12477932,11144225,10502414,8159721,9242638,8889548 64100 NM_022142,AC010330,CH471177,AF279147,AJ278478,BC015598,BM661759,BM663735 NP_071425,EAW52309,AAK69481,CAC14267,AAH15598,Q96BH3 Hs.104894 E12|EDDM12|HE12 epididymal protein 12|epididymal secretory protein 12|epididymal sperm-binding protein 1 protein-coding 1347532 ELTD1 EGF, latrophilin and seven transmembrane domain containing 1 632805,1580863 15203201,18519829,16344560,16335952,15489334,12975309,12477932,11181995,11050079 632805 64123 NM_022159,AC098651,AC099674,AL596269,CH471059,AB032017,AF192403,AK129766,AK172750,AK292894,AK313738,AY358360,BC025721,DA477962 NP_071442,CAI13205,CAI13206,EAX06345,EAX06346,BAD83584,AAG33021,BAD18736,BAF85583,BAG36479,AAQ88726,AAH25721,Q6ZMI9,Q9HBW9 Hs.132314 ETL|KPG_003 EGF, latrophilin and seven transmembrane domain-containing protein 1|EGF-TM7-latrophilin-related protein protein-coding 1342878 EMB embigin homolog (mouse) This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq] 632509 15024082,15489334,12477932,9438341,8700511,2963822 632509 133418 NM_198449,AC035145,AC091833,CH471123,AK300860,AK304226,BC059398,CR621536,CR625471,DC309453,U52054 NP_940851,EAW54852,EAW54853,EAW54854,BAH13359,BAH14138,AAH59398,Q6PCB8 Hs.561411 MGC71745 OTTHUMP00000221477|OTTHUMP00000221478|OTTHUMP00000221479|embigin|embigin homolog protein-coding 4107118 EMBP1 embigin pseudogene 1 19330030 647121 AK128714,AL592494,NR_003955 Hs.697682 pseudo 1602001 EMCN endomucin EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM] 20379614,18029348,15489334,15249540,14722670,12485444,12477932,12087473,12000719,11594763,11418125,9373149,8125298 51705 NM_001159694,AC097459,CH471057,CS104348,AB034695,AF205940,AK026875,AK222741,AK291831,AK304568,AK313504,NM_016242,AL133118,AY039241,BC017781,BG506923 NP_057326,NP_001153166,AAY41011,EAX06121,EAX06122,CAJ01219,BAA86228,AAF76295,BAD96461,BAF84520,BAG65359,BAG36284,AAK68660,AAH17781,Q4W5J1,Q53H40,Q9ULC0 Hs.152913 EMCN2|MUC14 MUC-14|OTTHUMP00000219639|endomucin|endomucin-2|gastric cancer antigen Ga34|mucin-14 protein-coding 735605 EMD emerin Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq] 1598907,1580863 20562859,15009215,16169070,7894480,8589715,18029348,19302538,19126678,19022376,18646565,18400857,18266676,17785515,17652388,17620497,17536044,17462627,17117676,17097067,17081983,17067998,16997877,16858403,16823856,16761279,16680152,16481476,16381901,16371512,16283426,16246140,16212419,16204256,16189514,16094384,15681850,15592455,15489336,15489334,15328537,15144186,15109603,12783988,12755701,12670476,12665801,12493765,12477932,12163176,11973618,11792822,11792821,11587540,11470279,11435115,11173535,11076863,11034899,10965799,10673356,10323252,9673989,9472006,9442884,9361031,8733135,8655156,8248200,16738646,19454010,19727227,8595407,19913121,20628086,11256614,15671068,19323649,19759913,19789182,20054742,20474083 1598907 2010 NM_000117,NG_008677,BX936346,CH471172,D64111,L44140,X86810,BC000738,BT007401,CR536536,CR591915,CR598116,CR607659,CR609721,CR614842,CR617769,CR618160,CX781694,X82434 NP_000108,CAI43228,CAI43229,EAW72742,EAW72743,BAA10972,AAA92645,CAA60500,AAH00738,AAP36065,CAG38773,CAA57817,P50402,Q6FI02,CAL38599 Hs.522823 EDMD|LEMD5|STA LEM domain containing 5|emerin|emerin (Emery-Dreifuss muscular dystrophy) protein-coding 1319200 EME1 essential meiotic endonuclease 1 homolog 1 (S. pombe) EME1 and MUS81 (MIM 606591) form an endonuclease complex that cleaves branched DNA structures, especially those arising during stalled DNA replication (Abraham et al., 2003 [PubMed 14609959]).[supplied by OMIM] 1580863 12477932,16344560,19596235,19596236,20522537,19267403,19017809,18559551,18413719,18310322,17081983,16456034,15489334,15302935,14702039,14617801,14609959,12721304,12686547,20734064,19714462,20610542 146956 AK021607,DA006645,DB245967,NM_001166131,NM_152463,AC004707,CH471109,AK055926,AK308275,BC016470,CR625324 NP_001159603,NP_689676,EAW94617,EAW94618,EAW94619,EAW94620,EAW94621,BAB71047,AAH16470,Q96AY2 Hs.514330 FLJ31364|MMS4L|SLX2A MMS4 homolog|OTTHUMP00000221188|OTTHUMP00000221189|OTTHUMP00000221193|SLX2 structure-specific endonuclease subunit homolog A|crossover junction endonuclease EME1|essential meiotic endonuclease 1 homolog 2|hMMS4|homolog of yeast EME1 endonuclease protein-coding 1344240 EME2 essential meiotic endonuclease 1 homolog 2 (S. pombe) EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM] 17289582,12721304,12477932,11157797 197342 NM_001010865,AC012180,CH471112,AK074080,BC041011,EF452422,AE006639 NP_001010865,AAK61292,EAW85626,BAB84906,ABO21766,A4GXA9,AAI67808 Hs.7247 FLJ00151|SLX2B|gs125 SLX2 structure-specific endonuclease subunit homolog B|homolog of yeast EME1 endonuclease 2|probable crossover junction endonuclease EME2 protein-coding 1607076 EMG1 EMG1 nucleolar protein homolog (S. cerevisiae) EMG1 plays a role in the processing of the pre-18S rRNA and small ribosomal subunit assembly (Liu and Thiele, 2001 [PubMed 11694595]) and may play a role in methylation during ribosome biogenesis (Eschrich et al., 2002 [PubMed 11935223]).[supplied by OMIM] 15590835,19463982,18950845,16344560,15489334,17207965,15578624,12477932,11935223,11790298,11694595,9074930,8889548,7566098,16169070 10436 NM_006331,CH471116,U47924,AI394112,NG_021408,AK291597,AK298207,AK298745,BC055314,BM709304,BQ015307,CD704778,CR623901,DA070200,DC403138,U56427,U72514,AA314580 NP_006322,EAW88694,EAW88695,EAW88696,EAW88697,EAW88698,AAB51325,ADQ32241,BAF84286,BAG60477,BAG60889,AAH55314,AAC51641,Q92979 Hs.558447 BWCNS|C2F|FLJ60792|Grcc2f|NEP1 essential for mitotic growth 1|probable ribosome biogenesis protein NEP1 protein-coding 1349411 EMID1 EMI domain containing 1 737633,1580863 19913121,20628086,12221002,15489334,15461802,14702039,12477932 737633 129080 NM_133455,AL031186,CH471095,AJ416090,AK097163,AL831910,BC013830,BC046358,CR456407,CR618329,CR625040,CR625579 NP_597712,CAQ10929,CAQ10941,CAQ10942,CAQ10943,CAQ10944,CAQ10945,EAW59776,EAW59777,CAC94777,CAD38573,AAH46358,CAG30293,Q8NDR2,Q96A84,CAK54396,CAK54695 Hs.289106 EMI5|EMU1|MGC50657|hEmu1 EMI domain-containing protein 1|emilin and multimerin domain-containing protein 1|emilin and multimerin-domain containing protein 1|putative emu1 protein-coding 1345849 EMID2 EMI domain containing 2 1580863 21086123,16713569,12477932,12221002,12145293 136227 NM_133457,AC004953,AC004965,CH471197,AJ416091,BC040052,BC109254,BC110393 NP_597714,EAW50221,EAW50222,CAC94778,AAI09255,AAI10394,Q96A83 Hs.654854 COL26A1|EMI6|EMU2|MGC129848|SH2B|hEmu2 EMI domain-containing protein 2|Emu2|OTTHUMP00000196065|collagen alpha-1(XXVI) chain|collagen, type XXVI, alpha 1|emilin and multimerin domain-containing protein 2|emilin and multimerin-domain containing protein 2|putative emu2 protein-coding 1322548 EMILIN1 elastin microfibril interfacer 1 1580958,1580863 10821830,14701737,16530041,19023665,19922630,20186130,10358019,18564921,18463100,18411305,18029348,17988845,16303743,16263699,16189514,16021519,15489334,15146197,15017143,12477932,12456677,11278945,11012893,10625608 1580958 11117 AL552691,NM_007046,AC013403,AF162780,CH471053,AF088916,AK075517,AK307539,AL050138,BC007530,BC009947,BC017284,BC090957,BC136279,BC142638,BC142688,CN350368 NP_008977,AAX93166,AAF25006,EAX00644,EAX00645,EAX00646,EAX00647,AAD42161,CAB43287,AAH07530,AAH09947,AAI36280,AAI42689,Q96IH6,Q9Y6C2 Hs.63348 DKFZp586M121|EMI|EMILIN|EMILIN-1|gp115 EMILIN-1|elastin microfibril interface located protein|elastin microfibril interface-located protein 1 protein-coding 1313316 EMILIN2 elastin microfibril interfacer 2 1580863 12477932,14702039,11278945,17988845,17698584,20360940,20379614,19913121,20628086 84034 NM_032048,AP000919,AP001011,CH471113,AB026706,AF270513,AI356740,AK090519,AL552384,BC032231,BC136541,BX398832,CR608972,CR609164,CR624674 NP_114437,EAX01690,BAB61020,AAK37963,BAC03470,AAH32231,AAI36542,Q8N5L1,Q9BXX0 Hs.532815 EMILIN-2|FLJ33200|FOAP-10 EMILIN-2|elastin microfibril interface-located protein 2|extracellular glycoprotein EMILIN-2 protein-coding 1320036 EMILIN3 elastin microfibril interfacer 3 18158787,15489334,14706625,12477932,12221002,11780052,20562859 90187 NM_052846,AL031667,CH471077,AB089149,AL137580,BC101043,BC101044,BC101045,BC101046 NP_443078,CAI42976,EAW75983,EAW75984,BAD11034,CAB70822,AAI01044,AAI01046,AAI01047,Q495S5,Q9NT22 Hs.726525 C20orf130|DKFZp434A2410|EMILIN5|dJ620E11.4 EMILIN-3|EMILIN-5|elastin microfibril interface-located protein 3|elastin microfibril interface-located protein 5|elastin microfibril interfacer 5 protein-coding 1343308 EML1 echinoderm microtubule associated protein like 1 Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9226380,16189514,14702039,12477932,11829466,10521658,9738858,9110174,8619474,1478676,20734064,19060904 2009 NM_001008707,NM_004434,AJ420603,AL133368,AL136000,CH471061,AF035276,AK023861,AK126980,AK299812,AK307925,BC032541,BC033043,BX247979,BX420178,BX442035,U97018 NP_001008707,NP_004425,CAD12600,EAW81679,EAW81680,EAW81681,BAG54415,BAH13136,AAH32541,AAH33043,CAD62313,AAB57824,O00423,ABM82482,ABM85669 Hs.12451 ELP79|EMAP|EMAPL|FLJ45033|HuEMAP EMAP-1|echinoderm microtubule-associated protein-like 1|huEMAP-1 protein-coding 734198 EML2 echinoderm microtubule associated protein like 2 1580863 17353931,10521658,15489334,12477932,11694528,9373149,8125298,18029348 24139 DC366776,NM_001193268,NM_001193269,NR_034098,NM_012155,AC011480,AC098776,CH471126,AB209773,AF103939,AK026616,AK225043,AK308403,AL096717,BC029304,BC032630,AK294668,AK295905,AK296258,AK302961,AK304299,AC006132 NP_001180197,NP_001180198,NP_036287,EAW57369,EAW57370,BAD93010,AAD19904,CAB46373,AAH32630,O95834,BAH11841,BAH12218,BAH12295,BAH13858,BAH14154 Hs.24178 ELP70|EMAP-2|EMAP2 echinoderm MT-associaated protein (EMAP)-like protein 70|echinoderm MT-associated protein (EMAP)-like protein 70|echinoderm microtubule-associated protein-like 2|huEMAP-2|microtubule-associated protein like echinoderm EMAP protein-coding 1606414 EML3 echinoderm microtubule associated protein like 3 17353931,18445686,15324660,15225882,15146197,14744259,14702039,12477932 256364 BC108280,AP001458,CH471076,AK093146,AK128679,AK296901,AK310579,AL833388,BC050467,NM_153265,CN386217,CR601049,BC075824,CN386216 AAI08281,NP_694997,EAW74033,EAW74034,EAW74035,EAW74036,EAW74037,EAW74038,EAW74039,EAW74040,BAC04073,BAC87566,BAG59459,Q32P44 Hs.379785 ELP95|FLJ35827|MGC111422 EMAP-3|OTTHUMP00000194700|echinoderm microtubule-associated protein-like 3 protein-coding 1351948 EML4 echinoderm microtubule associated protein like 4 1580863 17353931,10995578,18927303,18594010,18593892,18414414,18320074,18242762,18166835,18083107,17625570,17081983,16890222,15815621,15592455,15489334,15302935,20578368,14702039,12477932,9110174,8619474,16169070,20624322,19147828,19667264,19737969,20183914 27436 NM_001145076,AC006038,AC083949,AC096668,CH471053,AF131753,AF177377,AK001804,AK021782,AK056880,AK172777,AK295778,NM_019063,AK314702,AL832392,BC008685,BC023522,BC038351,BC067777,BC104647,BC140845,BC146799,BX647693,BX647731,DB471322 NP_061936,NP_001138548,AAY15086,AAX82006,AAY14895,EAX00324,AAG09279,BAA91919,BAG58601,BAG37250,AAH08685,AAH23522,AAI04648,AAI40846,AAI46800,Q96HE3,Q9HC35 Hs.593614 C2orf2|DKFZp686P18118|ELP120|EMAP-4|EMAPL4|FLJ10942|FLJ32318|ROPP120 OTTHUMP00000201447|OTTHUMP00000201455|echinoderm microtubule-associated protein-like 4|restrictedly overexpressed proliferation-associated protein|ropp 120 protein-coding 1350172 EML5 echinoderm microtubule associated protein like 5 15225882,14702039,12477932 161436 NM_183387,AL121768,AL162171,CH471061,AK122824,AK127024,AK128086,AY357725,BC032685,BC042055,BC150639,BM893636,BX648569,CR933726 NP_899243,EAW81393,EAW81394,BAC86793,BAC87266,AAQ62653,AAH32685,AAI50640,Q05BV3,CAI46257 Hs.325846 DKFZp781D1122|EMAP-2|HuEMAP-2 EMAP-5|echinoderm microtubule-associated protein-like 5 protein-coding 2302327 EML6 echinoderm microtubule associated protein like 6 19553259,20379614 400954 NM_001039753,AC013414,AC104781,CH471053,AK124553,AK131467,BX647078,AC093110 NP_001034842,EAX00135,BAD18612,Q6ZMW3 Hs.656692 DKFZp686G14111|FLJ16635|FLJ42562 EMAP-6|echinoderm microtubule-associated protein-like 5-like|echinoderm microtubule-associated protein-like 6 protein-coding 735990 EMP1 epithelial membrane protein 1 1342449,1580863 8996089,7499420,8884260,16087880,15489334,12632483,12477932,12451984,10331954,9126480,9066625,8683158,20800603,19288191 1342449 2012 AC022276,AC079628,CH471094,AK299388,AK308505,AK310798,AK312246,BC017854,BC047300,CR608144,DC372133,U43916,U77085,Y07909,Z50751,NM_001423 NP_001414,EAW96304,EAW96305,EAW96306,BAG61373,BAG35178,AAH17854,AAH47300,AAC51783,AAC51207,CAA69217,P54849,Q8WWD6,CAA90627 Hs.719042 CL-20|EMP-1|TMP epithelial membrane protein 1|tumor-associated membrane protein protein-coding 1344065 EMP2 epithelial membrane protein 2 1580863 20732626,20670949,16341674,8996089,8884260,19010852,18400107,17609206,17544801,16344560,16216233,15489334,14702039,12710941,12477932,11752456,11713717,10331954,8917086,12782127 2013 NM_001424,AC027277,AY057060,CH471112,AA854747,AF190163,AK096403,AK123602,AK127600,AK313134,AV657588,BC009687,BC016019,BF981157,BM755118,BQ676037,BU838264,DA752772,U52100,X94770 NP_001415,AAL27085,EAW85180,EAW85181,EAW85182,AAQ13707,BAG35953,AAH09687,AAC51779,CAA64393,P54851 Hs.531561 MGC9056|XMP EMP-2|epithelial membrane protein 2 protein-coding 731841 EMP3 epithelial membrane protein 3 1580863 8996089,19270820,18823699,17610521,17187361,16015083,15583422,15489334,12107182,10331954,9204931,8917086,8884260,12477932,20388442 2014 NM_001425,AC008392,CH471177,AL541088,BC009718,BT007124,CR456871,CR541955,CR598652,CR612472,U52101,U87947,X94771 NP_001416,EAW52333,EAW52334,AAH09718,AAP35788,CAG33152,CAG46753,AAC50920,AAC51730,CAA64394,P54852,Q6IBD3,ABM92261,ABM84749 Hs.9999 YMP EMP-3|HNMP-1|epithelial membrane protein 3|hematopoietic neural membrane protein 1 protein-coding 1342649 EMR1 egf-like module containing, mucin-like, hormone receptor-like 1 This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. [provided by RefSeq] 1580863 7601460,17823986,15489334,12477932,10903844,10501980,9500513,9383301,20625511,20424473 2015 X81479,BC059395,AB065918,AC020895,AC025278,CH471139,CS173019,DQ217942,AK131562,AK290401,AK291518,AK297003,AK297011,AK313495,NM_001974 AAH59395,CAA57232,Q14246,Q6ZMN0,NP_001965,BAC06133,EAW69055,EAW69056,CAJ33691,ABB70739,BAD18695,BAF83090,BAF84207,BAH12472,BAH12475,BAG36277 Hs.2375 TM7LN3 EGF-like module receptor 1|EGF-like module-containing mucin-like hormone receptor-like 1|EMR1 hormone receptor|egf-like module containing, mucin-like, hormone receptor-like sequence 1 protein-coding 1345702 EMR2 egf-like module containing, mucin-like, hormone receptor-like 2 This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 3 on chromosome 19. This protein does not interact with the ligand decay accelerating factor for complement, unlike the related CD97 antigen, and indicates that these very closely related proteins likely have nonredundant functions. This gene results in multiple transcripts encoding distinct isoforms. [provided by RefSeq] 15203201,18267122,17928360,17174274,15150276,15057824,14702039,12860403,12829604,12477932,11994511,11297558,10903844,9373149,8125298,15498814,20167235,20237496 30817 BC053933,BC082991,BC127004,BC127005,NM_152918,NM_152917,NM_152921,NM_152916,NM_152920,NM_013447,NM_152919,AB065931,AC004262,AC005327,AC090427,CH471106,AF114491,AK024426,AK024454,AK222891,AK291776,AK298690,AK298700,AK301458,BC034949,BG720310,CR936819 AAH53933,AAI27005,NP_690882,NP_690881,NP_690885,NP_690880,NP_690884,NP_038475,NP_690883,BAC06146,AAC05172,EAW84445,EAW84446,EAW84447,EAW84448,AAF21974,BAB15716,BAB15744,BAD96611,BAF84465,BAG60850,BAG60858,BAG62980,AAH34949,AAI27006,Q53GP0,Q7Z618,Q9H7M4,Q9H7Q2,Q9UHX3 Hs.531619 CD312|DKFZp781B135 EGF-like module receptor 2|EGF-like module-containing mucin-like hormone receptor-like 2|egf-like module containing, mucin-like, hormone receptor-like sequence 2 protein-coding 1606765 EMR3 egf-like module containing, mucin-like, hormone receptor-like 3 This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. [provided by RefSeq] 17081983,12975309,12477932,11279179,15203201,17108056,20237496,20625511 84658 AC022149,NM_032571,AC090427,AC135052,CH471106,AF239764,AK290909,AK298653,AL832663,AW450761,AY358817,BC121130,BC121131,BC128053,BC142639,BC148282 NP_115960,EAW84438,EAW84439,EAW84440,AAK15076,BAF83598,BAH12837,AAQ89176,AAI21131,AAI21132,AAI28054,AAI48283,Q0IJ52,Q0IJ53,Q9BY15,AAI66661 Hs.658712 EGF-like module receptor 3|EGF-like module-containing mucin-like hormone receptor-like 3|egf-like module-containing mucin-like receptor 3 protein-coding 1606914 EMR4P egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. A protein expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq] 16753812,15203201,12731063,12679517,12565841,12477932,11181995 326342 NR_024075,AC025278,CH471139,AF489700,AY181245,AY255550 EAW69053,EAW69054,AAO27357,AAO85062,AAI52959 Hs.688043 EMR4|FIRE|GPR127|PGR16 pseudo 1352342 EMWX episodic muscle weakness, X-linked 10486330 10118 1345106 EMX1 empty spiracles homeobox 1 1580863 16712791,15815621,15489334,14702039,12477932,10669604,8843394,7959790,7601155,1352754,20016109 2016 NM_004097,AC012366,CH471053,AK092368,BC037242,BC045762,BE501779,CB156771,CR592760,X68879 NP_004088,AAY14744,EAW99755,EAW99756,AAH37242,AAH45762,CAA48750,Q04741 Hs.516090 empty spiracles homolog 1|empty spiracles homolog 1 (drosophila)|empty spiracles-like protein 1|homeobox protein EMX1 protein-coding 1322367 EMX2 empty spiracles homeobox 2 The homeodomain transcription factor EMX2 is critical for central nervous system and urogenital development. EMX1 (MIM 600034) and EMX2 are related to the 'empty spiracles' gene expressed in the developing Drosophila head.[supplied by OMIM] 1580863 15247416,18973570,18409201,17563403,17506092,15294144,20697358,14702039,12573261,12482956,12185771,11549315,11230166,8528262,7959790,1352754,20634891,15126568,12477932,20219685 2018 NM_004098,AC005871,CH471066,AF301598,AI701984,AK055041,AK311352,AL161811,BC010043,CR602505,X68880,NG_013009,NM_001165924 NP_004089,EAW49425,AAK95496,BAB70842,CAB82104,CAA48751,Q04743,AAI52826,NP_001159396 Hs.202095 empty spiracles homolog 2|empty spiracles homolog 2 (drosophila)|empty spiracles-like protein 2|homeobox protein EMX2 protein-coding 1352483 EMX2OS EMX2 opposite strand (non-protein coding) 12573261,12477932 196047 NR_002791,AC005871,AK123533,AL137578,AY117034,AY117413,BC040186 Hs.312592 FLJ41539|NCRNA00045 miscrna 1351603 EN1 engrailed homeobox 1 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq] 1580863 19913121,20628086,8094370,8684466,19453261,19384295,19345444,19018235,19010793,18698228,16730693,16571670,15839736,15240857,12477932,11551904,11076863,11069920,9169834,7777574,1363401,2567700,20944657 2019 NM_001426,NG_007123,AC012665,CH471103,L12698,L12699 NP_001417,AAX88967,EAW95205,EAW95206,AAA53502,Q05925,AAI11841 Hs.271977 engrailed homolog 1|homeobox protein en-1|homeobox protein engrailed-1|hu-En-1 protein-coding 1343015 EN2 engrailed homeobox 2 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq] 1358567,1358620,1580863 1672471,19270442,18562208,18424904,17948901,17948868,17267560,16941662,16252243,16007149,15489334,15253423,15024396,12853948,12690205,12642491,12525552,12477932,11815869,10581478,10552924,10417292,10196369,9847074,9546821,9169834,7777574,2567700,2565873,1363401,19615670,20050924,20523082 1358567,1358620 2020 NM_001427,NG_007124,AC008060,CH236954,CH471149,J03066,L12700,L12701,BC104970,BC104972,H16179 NP_001418,AAQ96875,EAL23909,EAX04535,AAF68670,AAA53504,AAI04971,AAI04973,P19622 Hs.134989 engrailed homolog 2|engrailed-2|homeobox protein en-2|homeobox protein engrailed-2|hu-En-2 protein-coding 1316988 ENAH enabled homolog (Drosophila) 1580863 19277120,19082477,19081071,18985426,18676769,18158903,17081983,16964243,16710414,16533770,16494957,16336193,15556561,15489334,15469846,15469845,15148305,15027125,14702039,14506234,12967995,12941633,12695497,10801818,10747096,10725224,9473484,9407065,9312002,1420303,14592989,12672821,12571287,12477932,11696321,10892742,16055720,17101133,17686488,19434313,19641378,20083228,20379614,9171351 55740 BC065238,BC095481,BQ672102,CB961874,CB991931,NM_001008493,AC092811,AL356216,AL591380,CH471098,AF519769,AK001635,AK025108,AK096246,AK126894,AK127561,AK290179,AL133059,AY345143,BC010414,BC037319,NM_018212,EU255274 AAH65238,AAH95481,Q6ZSB8,Q6ZT55,Q8N8S7,NP_060682,NP_001008493,CAI22019,CAH71476,EAW69747,AAQ08487,BAA91799,BAC04736,BAC86739,BAC87036,BAF82868,CAB61384,AAR04685,ABY78022 Hs.497893 ENA|MENA|NDPP1 OTTHUMP00000035864|protein enabled homolog protein-coding 1315614 ENAM enamelin Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises approximately 5% of total enamel matrix protein.[supplied by OMIM] 1598908,1580863 19329462,18781068,18714142,18466877,18245370,17316551,17125728,15345747,14684688,14656895,12828988,12477932,12407086,11978766,11487571,11076863,11037750,10831092,7833920,19923784 1598908 10117 NM_031889,AC009570,AC134919,AF530444,AY167999,CH471057,EU482096,AF125373,AF210247,BC117308,BC117310,BC171756,NG_013024 NP_114095,AAM97323,AAN87336,EAX05625,ACA43029,AAG43242,AAF73847,AAI17309,AAI17311,Q8IWP4,Q8NFB4,Q9NRM1,AAI11842 Hs.667018 ADAI|AI1C|AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant)|enamelin protein-coding 1352868 ENC1 ectodermal-neural cortex (with BTB-like domain) DNA damage and/or hyperproliferative signals activate wildtype p53 tumor suppressor protein (TP53; MIM 191170), inducing cell cycle arrest or apoptosis. Mutations that inactivate p53 occur in 50% of all tumors. Polyak et al. (1997) [PubMed 9305847] used serial analysis of gene expression (SAGE) to evaluate cellular mRNA levels in a colorectal cancer cell line transfected with p53. Of 7,202 transcripts identified, only 14 were expressed at levels more than 10-fold higher in p53-expressing cells than in control cells. Polyak et al. (1997) [PubMed 9305847] termed these genes 'p53-induced genes,' or PIGs, several of which were predicted to encode redox-controlling proteins. They noted that reactive oxygen species (ROS) are potent inducers of apoptosis. Flow cytometric analysis showed that p53 expression induces ROS production, which increases as apoptosis progresses under some conditions. The authors stated that the PIG10 gene, also called ENC1, encodes an actin-binding protein.[supplied by OMIM] 1580863 19424503,15983046,9566959,18981988,17875699,16344560,15761153,15489334,15459180,14702039,12477932,11691783,10974570,10828068,10640818,9683534,9305847 8507 CR602279,AC026405,CH471084,AF005381,AF010314,AF059611,AK096578,AK295128,AK312608,AU120246,AY049781,BC000418,BT007392,NM_003633 AAP36056,O14682,Q53XS2,Q96L69,ABM82771,ABM85959,ACE87225,ACE86544,EAW95740,AAC64498,AAC39532,AAC26109,BAG53327,BAG58153,BAG35496,AAL15438,AAH00418,NP_003624 Hs.104925 CCL28|ENC-1|FLJ39259|KLHL35|KLHL37|NRPB|PIG10|TP53I10 OTTHUMP00000222054|OTTHUMP00000222056|ectoderm-neural cortex protein 1|ectodermal-neural cortex (with BTB-like domain)|kelch-like 35|kelch-like 37|kelch-like protein 37|nuclear matrix protein NRP/B|nuclear restricted protein, BTB domain-like (brain)|p53-induced gene 10 protein|tumor protein p53 inducible protein 10 protein-coding 1602126 ENDOD1 endonuclease domain containing 1 15489334,12477932,11921445,10048485,9110174,8619474,16344560 23052 NM_015036,AP000787,AP001264,CH471065,AB020637,AF131747,AK026560,AK291673,BC026191,BC071171,CR609394,DA050413 NP_055851,EAW66957,BAA74853,BAF84362,AAH26191,AAH71171,O94919 Hs.167115 KIAA0830|MGC88092 endonuclease domain-containing 1 protein protein-coding 1321856 ENDOG endonuclease G The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq] 1580863 20211237,19272175,19199036,18754329,18705403,17347867,17107772,17046751,16133872,15489334,15182854,12477932,12444964,11452314,9324313,7789991,15204919,20843780,19781850,20877624 2021 NM_004435,AL441992,CH471090,AK130973,BC004922,BC016351,CR603245,CR603254,CR608292,X79444,HQ205306,HQ205307,HQ205308,HQ205309,HQ205310,HQ205311,HQ205312,HQ205313,HQ205314,HQ205315,HQ205316,HQ205317,HQ205318,HQ205319,HQ205320,HQ205321,HQ205322,HQ205323,HQ205324,HQ205325,HQ205326,HQ205327,HQ205328,HQ205329,HQ205330,HQ205331,HQ205332,HQ205333,HQ205334,HQ205335,HQ205336,HQ205337,HQ205338,HQ205339,HQ205340,HQ205341,HQ205342,HQ205343,HQ205344,HQ205345 NP_004426,CAI15412,EAW87837,AAH04922,AAH16351,CAA55963,Q14249,ADP90774,ADP90775,ADP90776,ADP90777,ADP90778,ADP90779,ADP90780,ADP90781,ADP90782,ADP90783,ADP90784,ADP90785,ADP90786,ADP90787,ADP90788,ADP90789,ADP90790,ADP90791,ADP90792,ADP90793,ADP90794,ADP90795,ADP90796,ADP90797,ADP90798,ADP90799,ADP90800,ADP90801,ADP90802,ADP90803,ADP90804,ADP90805,ADP90806,ADP90807,ADP90808,ADP90809,ADP90810,ADP90811,ADP90812,ADP90813 Hs.224137 FLJ27463 endo G|endonuclease G, mitochondrial|mitochondrial endonuclease G protein-coding 1347375 ENDOGL2 endonuclease G-like 2 10231028 338025 AB020735 1351093 ENG endoglin This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds TGFB1 and TGFB3 with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580959,1580960,1580961,1580962,1580963,1580964,1580965,1580863,2313795,2313806,1601038 19412349,19352388,19299629,19270816,19268655,19253312,19250924,19211612,19205515,19165674,19141403,19135290,19080433,19074480,19039203,19008959,18971528,18949376,18922939,18855162,18815549,18810471,18805961,18798555,18775991,18771978,18758636,18702104,18676680,18673552,18669913,18607909,18519764,18498373,18494936,18462791,18440621,18366008,18353434,18330824,18316564,18312453,18276933,18223685,18175241,18156205,17964708,17956952,17852832,17786384,17682823,17673527,17608955,17594108,17579118,17572488,17564791,17540773,17496924,17482348,17426082,17388964,17311868,17290185,17224686,17210583,17166870,17088457,17081563,16907850,16870672,16840721,16785228,16776339,16752392,16751767,16733295,16705692,16601078,16552334,16542389,16525724,16470589,16429404,16344560,16202216,16179574,16177881,15976502,15966703,15926713,15880681,15821778,15809709,15806144,15718503,15712271,15687131,15633211,15631865,15522964,15521985,15517393,15319534,15274325,15272276,15148318,15084601,15067342,15024723,14996436,14991534,14669355,14528280,12920067,12820370,12819391,12778073,12775886,12568406,12477932,12447690,12365720,12228247,12009077,11987155,11986954,11793473,11692035,10982033,10625079,10548503,10545596,10348742,9845534,9023056,8655583,8404038,8370410,8194490,8125298,7722302,20694148,19419943,15712270,9636649,9071813,11382917,3262645,8294451,9872992,15702480,12015308,18974388,7894484,17068149,1537377,19004009,1692830,1326540,19508727,9554745,9373149,9366572,9245986,9157574,20414677,19913121,20628086,20199197,20670156,20656886,21070126,19395281,20712008,19088371,20981476,16982625,19115106,19116719,19170196,19350449,19544399,19578796,19625176,19661015,19670444,19692168,19736306,19788614,19889225,19890661,19912365,19919302,19939849,20067780,20082874,20098615,20134268,20223440,20233512,20346360,20430360,20878063 1580959,1580960,1580961,1580962,1580963,1580965,2313795,2313806,1601038 2022 NM_000118,NM_001114753,NG_009551,AF035753,AL157935,AL162586,CH471090,U37439,AK222669,AK223044,AK290389,AK300156,AK301171,AK302455,BC014271,BC020391,BC031967,BT006872,DA943458,J05481,X72012,DQ866809 NP_000109,NP_001108225,AAC32802,CAI12604,CAI12605,CAI39764,CAI39765,EAW87702,EAW87703,EAW87704,AAC63386,BAD96764,BAF83078,BAG61940,BAH13421,BAG63750,AAH14271,AAP35518,AAA35800,CAA50891,P17813,Q53G87,Q5T9B9,Q71V36,Q96CG0,ABM84599,ABM86753,ABI75346 Hs.76753 CD105|END|FLJ41744|HHT1|ORW|ORW1 CD105 antigen|endoglin protein-coding 1601977 ENGASE endo-beta-N-acetylglucosaminidase Endo-beta-N-acetylglucosaminidase (ENGase; EC 3.2.1.96) is involved in the processing of free oligosaccharides in the cytosol.[supplied by OMIM] 20413512,18586680,12905469,12477932,12114544,8269854,20026047,20668520 64772 AC073624,CH471099,AF512564,AK025518,AK301115,AL110283,BC024213,BC035869,BC042158,NM_001042573 EAW89559,EAW89560,EAW89561,EAW89562,AAM80487,BAB15158,BAG62712,CAH56405,AAH24213,Q8NFI3,AAI56538,NP_001036038 Hs.29288 DKFZp434P174|FLJ21865 Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase|Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase|cytosolic endo-beta-N-acetylglucosaminidase protein-coding 1603336 ENHO energy homeostasis associated 19041763,12975309,12477932,20837912 375704 NM_198573,AL160270,CH471071,AI554721,AY358658,BC022101,BQ932712,BX111579 NP_940975,EAW58452,AAQ89021,AAH22101,Q6UWT2 Hs.522085 C9orf165|UNQ470 GAAI470|adropin|energy homeostasis-associated protein protein-coding 1320397 ENKUR enkurin, TRPC channel interacting protein Enkurin interacts with transient receptor potential canonical (TRPC) cation channels (see TRPC1; MIM 602343) and functions as an adaptor protein, tethering signal transduction proteins to TRPC channels (Sutton et al., 2004 [PubMed 15385169]).[supplied by OMIM] 737633 17217053,15489334,15385169,15164054,14702039,12477932 737633 219670 NM_145010,AL512598,CH471072,AK095021,AK292495,AY454125,BC026165,CR936720 NP_659447,CAH70788,CAH70789,EAW86115,EAW86116,EAW86117,EAW86118,BAC04477,BAF85184,AAS45168,AAH26165,Q5VV23,Q8TC29,ABM83002,ABM86195 Hs.534486 C10orf63|DKFZp781F21103|MGC26778|enkurin OTTHUMP00000019328|enkurin protein-coding 735808 ENO1 enolase 1, (alpha) This gene encodes one of three enolase isoenzymes found in mammals; it encodes alpha-enolase, a homodimeric soluble enzyme, and also encodes a shorter monomeric structural lens protein, tau-crystallin. The two proteins are made from the same message. The full length protein, the isoenzyme, is found in the cytoplasm. The shorter protein is produced from an alternative translation start, is localized to the nucleus, and has been found to bind to an element in the c-myc promoter. A pseudogene has been identified that is located on the other arm of the same chromosome. [provided by RefSeq] 2302799,2302802,1598909,1580863,1300048 20498720,20849415,3529090,11134351,2005901,10082554,19433310,19425054,19255486,19182206,18813785,18691435,18682748,18668562,18560153,18490439,18070418,18033204,17996313,17387692,17284257,16916647,16762917,16713569,16710414,16381901,16359544,16289162,16236267,15952740,15951569,15805119,15592455,15489336,15489334,15324934,15324660,14702039,12847697,12787059,12666133,12665801,12477932,12354300,12297304,11836316,11497239,11256614,11230166,11169399,11076863,10802057,10681589,9878089,9691177,9653645,20435467,2462567,9308760,9150948,9119380,9110174,9093905,8824716,8619474,8125298,7787969,2373081,2045099,1602151,14499622,9373149,20864512,19394292,20721957,16548883,16884686,19339807,19795461,19846662,20181627 2302799,2302802,1598909 2023 AL139415,CH471130,DQ056744,X16287,X16288,AF035286,AK098420,AK222517,AK223192,AK298600,AK309177,AK309291,AK315417,AL833741,BC001810,BC004325,BC004458,BC009218,NM_001428,BC009912,BC011130,BC015641,BC021166,BC022545,BC027725,BC050642,BC113034,BT007163,BX537400,CR590515,CR590766,CR590981,CR591098,CR591671,CR591792,CR592364,CR593070,CR593266,CR593938,CR593962,CR594090,CR594212,CR594303,CR594572,CR594620,CR595389,CR595532,CR595542,CR596040,CR596253,CR596356,CR596722,CR596860,CR597003,CR597121,CR597248,CR597447,CR597864,CR598051,CR598066,CR598611,CR599182,CR599278,CR599549,CR600265,CR600408,CR600587,CR600843,CR601208,CR601750,CR601993,CR602502,CR603187,CR603412,CR603775,CR604703,CR604754,CR604831,CR605152,CR605229,CR605325,CR605814,CR606095,CR606187,CR606447,CR606604,CR606616,CR608388,CR608511,CR608989,CR609018,CR609108,CR609504,CR609597,CR609808,CR610099,CR610631,CR610731,CR611164,CR611233,CR611520,CR611563,CR611826,CR612019,CR612658,CR612932,CR612967,CR613408,CR613637,CR613769,CR613921,CR613962,CR614232,CR614260,CR614386,CR614745,CR614888,CR614954,CR615234,CR615779,CR616632,CR616771,CR617373,CR617876,CR617914,CR618230,CR618800,CR619241,CR619284,CR619767,CR619978,CR620572,CR620667,CR621195,CR621350,CR621749,CR622287,CR622336,CR622388,CR622552,CR623000,CR623540,CR623647,CR623991,CR624186,CR624210,CR624798,CR625669,CR626413,CR626731,EF036495,M14328,M55914,X84907,GU170215,HC893763,NM_001201483 NP_001419,CAC42425,EAW71604,EAW71605,AAY43128,CAA34360,AAB88178,BAD96237,BAD96912,BAH12823,BAG37806,CAH56247,AAH01810,AAH04325,AAH04458,AAH09912,AAH11130,AAH15641,AAH21166,AAH22545,AAH27725,AAH50642,AAI13035,AAP35827,CAD97642,AAH09218,ABO65081,AAA52387,AAA35698,CAA59331,P06733,Q96GV1,Q9BT62,CAL38482,ABM82367,ABM85545,ADK47995,CBN61326,NP_001188412 Hs.517145 ENO1L1|MBP-1|MPB1|NNE|PPH 2-phospho-D-glycerate hydro-lyase|C-myc promoter-binding protein|MPB-1|MYC promoter-binding protein 1|alpha enolase like 1|alpha-enolase|alpha-enolase; c-myc promoter-binding protein-1|c-myc promoter-binding protein 1|c-myc promoter-binding protein-1|enolase 1, alpha|non-neural enolase|phosphopyruvate hydratase|plasminogen-binding protein|tau-crystallin protein-coding 1603224 ENO1B enolase alpha, lung-specific ENO1B is an isoform of the glycolytic enzyme enolase (2-phospho-D-glycerate hydrolase; EC 4.2.1.11). It is a member of the alpha family of enolases which show widespread tissue distribution and expression in the early stages of embryonic development.[supplied by OMIM] 7689884 26237 Q05524 X66610 CAA47179,Q05524 HLE1 protein-coding 1351864 ENO1P enolase 1, (alpha) pseudogene 1580863 12477932,8941374,2132962,20237496 2025 NG_001115,X15277,AL136105 ENO1P pseudo 3457132 ENO1P2 enolase 1, (alpha) pseudogene 2 100419098 AC090985,NG_022137 pseudo 3457133 ENO1P3 enolase 1, (alpha) pseudogene 3 100419069 AC022336,NG_022217 pseudo 733932 ENO2 enolase 2 (gamma, neuronal) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq] 2293735,2293746,2293740,2293741,2293747,2293737,2302795,2293739,2293742,2302804,2293734,2293743,2293748,2293751,2293738,2293736,2293745,2293753,1580863 2045099,19540138,19405953,19221847,19221293,19204726,19074885,18783450,18609108,18460190,18063947,17436063,16978415,16411755,16236267,16169070,16044081,15951569,15592455,15489334,20495226,17618570,20873151,15289101,14702039,12636057,12581805,12477932,12353304,11985791,11983209,11935405,11919335,11881792,9074930,8264236,8035205,7682534,3974199,3653393,14631087,3385803,3208766,2792767,2249478,21149784,19220958,19307814,19445653,20105309,20348052,20381070 2293735,2293746,2293740,2293741,2293747,2293737,2302795,2293739,2293742,2302804,2293734,2293743,2293748,2293751,2293738,2293736,2293745,2293753 2026 CH471116,U47924,X51956,AK124656,AK290525,AK295220,AK312402,BC002745,BT007383,CR536582,CR607583,M22349,M36768,X13120,NM_001975,X14327,Y00691,HC893847 NP_001966,EAW88709,EAW88710,EAW88711,AAB51320,CAA36215,BAG54062,BAF83214,BAH12015,BAG35316,AAH02745,AAP36047,CAG38819,AAB59554,AAA52388,CAA32505,P09104,Q6FHV6,ABM84745,ABW03619,CAA31512,CBN61368 Hs.511915 NSE 2-phospho-D-glycerate hydro-lyase|2-phospho-D-glycerate hydrolyase|enolase 2, gamma|gamma-enolase|neural enolase|neuron specific gamma enolase|neuron-specific enolase|neurone-specific enolase protein-coding 732414 ENO3 enolase 3 (beta, muscle) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in skeletal muscle cells in the adult. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene can be associated with metabolic myopathies that may result from decreased stability of the enzyme. Two transcripts have been identified for this gene that differ only in their 5' UTR. [provided by RefSeq] 2301765,1580863,1300048 8681137,8513787,19472918,16344560,15489334,15188056,12477932,2587223,2336366,1840492,18468620,20800603,18029348 2301765 2027 BJ995304,DA082822,F26358,NM_001193503,NM_053013,NG_012063,AC004771,AC109333,CH471108,X55976,X56832,AK300662,AK300673,AK300709,AK309864,AL359213,AU143784,BC017249,DA566866,X16504,X51957,NM_001976 NP_001180432,NP_001967,NP_443739,EAW90375,EAW90376,EAW90377,EAW90378,EAW90379,EAW90380,CAA39446,CAA40163,BAG62348,BAG62358,BAG62388,CAB94588,AAH17249,CAA34513,CAA36216,P13929,Q9NPL4,ABM83548,ABM86788 Hs.224171 GSD13|MSE 2-phospho-D-glycerate hydro-lyase|2-phospho-D-glycerate hydrolyase|beta-enolase|enolase 3, beta|muscle specific enolase|muscle-specific enolase|skeletal muscle enolase protein-coding 1603616 ENOPH1 enolase-phosphatase 1 15843022,16344560,15489334,14702039,12477932,10931946,16169070 58478 AC067942,AC110787,CH471057,AF087881,AF113125,AF177286,AK022656,AL110167,BC001317,BC065815,CR457141,CR593619,NM_021204,CR615673,CR623426,DA347866 NP_067027,EAX05892,EAX05893,EAX05894,EAX05895,AAP97181,AAF14866,AAQ13671,BAB14160,AAH01317,AAH65815,CAG33422,Q7Z508,Q9UHY7 Hs.18442 DKFZp586M0524|E1|FLJ12594|MASA|MST145 2,3-diketo-5-methylthio-1-phosphopentane phosphatase|MASA homolog|OTTHUMP00000219541|acireductone synthase|enolase-phosphatase E1 protein-coding 1346972 ENOSF1 enolase superfamily member 1 This gene was originally identified as a naturally occurring antisense transcript to the human thymidylate synthase gene. Alternate splice variants have been described, one of which (named rTSalpha) represents an alternate 3'UTR that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and down-regulates TS expression. Another transcript variant (named rTSalpha) does not overlap the TS locus. The function of this gene appears to be primarily to regulate expression of the TS locus both via the antisense transcript as well as through the encoded proteins. [provided by RefSeq] 1580863 19190136,18635682,18427977,14702039,14508106,12477932,9381988,8889548,8764108,8493092,16162288,15342556,20485444,20565774,20458436 55556 NM_017512,NM_001126123,NM_202758,AF305057,AP001178,CH471113,AK093873,AK127219,AK127818,AK292780,AK295850,AK309035,AW001055,AW082251,BC001285,BF591232,BG679404,BM981714,BP271162,BQ028926,BQ710874,BX648215,CR599740,CR607316,CR608410,CR613516,X67098,X89602,BP265528,BQ017246,BQ645002,XR_109461,XR_111759,XR_115160 NP_059982,NP_001119595,NP_974487,AAG29536,AAG29537,EAX01711,EAX01712,EAX01713,EAX01714,EAX01715,BAG52778,BAG54456,BAC87148,BAF85469,BAG58656,AAH01285,CAA47471,CAA47472,CAA61761,Q6ZS08,Q7L5Y1 Hs.369762,Hs.658550 HSRTSBETA|RTS|TYMSAS antisense RNA to thymidylate synthase|mitochondrial enolase superfamily member 1|rTS alpha|rTS beta protein-coding 1605985 ENOX1 ecto-NOX disulfide-thiol exchanger 1 Electron transport pathways are generally associated with mitochondrial membranes, but non-mitochondrial pathways are also biologically significant. Plasma membrane electron transport pathways are involved in functions as diverse as cellular defense, intracellular redox homeostasis, and control of cell growth and survival. Members of the ecto-NOX family, such as CNOX, or ENOX1, are involved in plasma membrane transport pathways. These enzymes exhibit both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity in series, with each activity cycling every 22 to 26 minutes (Scarlett et al., 2005 [PubMed 15882838]).[supplied by OMIM] 19055324,16344560,16341674,16189514,16169070,15882838,14702039,12477932,11360993,20379614 55068 NM_001127615,AL136959,AL138823,AL161714,AL162713,AL445703,AL607148,AL627430,CH471075,AK000956,AK299053,AY513282,BC024178,BC068521,BM551661,BM834061,CR594606,DA779748,DB058776,EF432052,NM_017993 ABO28524,Q8TC92,NP_001121087,CAI16283,CAH70584,CAH72199,EAX08691,EAX08692,EAX08693,EAX08694,EAX08695,BAA91442,BAH12937,AAT08035,AAH24178,NP_060463 Hs.128258 CNOX|FLJ10094|PIG38|bA64J21.1|cCNOX candidate growth-related and time keeping constitutive hydroquinone (NADH) oxidase|candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase|cell proliferation-inducing gene 38 protein|constitutive Ecto-NOX|ecto-NOX disulfide-thiol exchanger 1|proliferation-inducing protein 38 protein-coding 1345108 ENOX2 ecto-NOX disulfide-thiol exchanger 2 The protein encoded by this gene is a growth-related cell surface protein. It was identifed because it reacts with the monoclonal antibody KI in cells, such as the ovarian carcinoma line OVCAR-3, also expressing the CAKI surface glycoprotein. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The two activities alternate with a period length of about 24 minutes. The encoded protein also displays prion-like properties. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11941450,1888291,9932650,12356293,18029348,8150545,11488599,18789934,18351130,18023414,16189514,15772651,15706060,15489334,14702039,12477932,11888291,11825610,11437345,11412089,10354495,9046026,19734125,20345278 10495 NM_182314,NG_012562,AL022153,AL049565,AL049733,AL591908,CH471107,Z80232,AF207881,AK000353,AK289812,AK289837,AL133207,BC019254,NM_006375,BC108713,BC139781,BC140874,BU160341,S72904,CS461240 NP_006366,NP_872114,CAI43112,CAI43113,CAI43114,CAH71675,CAH71676,EAX11796,EAX11797,AAF20934,BAF82501,BAF82526,CAB61581,AAH19254,AAI08714,AAI39782,AAI40875,AAB30428,Q16206,Q32ND0,CAM12255 Hs.171458 APK1|COVA1|tNOX APK1 antigen|OTTHUMP00000024021|OTTHUMP00000024022|cytosolic ovarian carcinoma antigen 1|ecto-NOX disulfide-thiol exchanger 2|tumor-associated hydroquinone oxidase protein-coding 732266 ENPEP glutamyl aminopeptidase (aminopeptidase A) 1581742,1580863 8244382,14998491,8346219,18029348,19187443,18550936,18410507,18206321,18188697,17999179,17990103,17850355,17603472,16344560,16335952,15489334,15048132,12614948,12477932,11390025,9268642,9062131,8804068,2364374,1756856,18677709,19373777,20332099,20379614 1581742 2028 NM_001977,AC017068,AC098798,CH471057,AI640493,AK313412,AL568777,AM888273,AM888274,AM888275,AM888276,AM888277,AM888278,AM888279,AM888280,AM888281,AM888282,AM888283,BC094770,BG400415,BX641012,DB070526,L12468,L14721 NP_001968,EAX06261,BAG36206,CAP09197,CAP09198,CAP09199,CAP09200,CAP09201,CAP09202,CAP09203,CAP09204,CAP09205,CAP09206,CAP09207,AAH94770,AAA16876,AAA35522,Q07075 Hs.435765 APA|CD249|gp160 AP-A|EAP|aminopeptidase A|aminopeptidase a|differentiation antigen gp160|glutamyl aminopeptidase protein-coding 1351327 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq] 1625124,1601044,1601043,1601042,1601041,1580863 19913121,20628086,20709678,19083193,19374858,19453261,19506043,19577557,19578796,19643578,19656007,19679831,19692168,19876004,19888898,19931660,20016754,20091022,20092902,20137772,20137773,20176643,20186155,20200332,20231843,20428609,20446819,20503258,7830796,10513816,11159191,8001561,11289049,17849011,12746903,1315502,19420105,19403348,19399648,19368707,19206175,19107338,19086938,19056482,19046915,19017751,18950909,18948963,18940878,18823720,18776139,18719658,18690303,18664022,18657335,18583883,18551113,18498634,18464750,18426862,18389334,18222177,18184924,18176722,18071025,17986276,17848394,17719609,17704904,17606264,17563456,17493546,17491709,17367703,17287921,17228024,17192490,17143316,17129580,17065359,17065358,17043047,17026496,16968801,16941279,16936213,16865358,16609882,16607460,16527214,16278247,16272817,16231022,16207325,16186408,16025115,15834329,15802034,15793263,15677494,15489334,15374726,15126519,15072822,15045693,15001634,14671192,14574404,14514598,12881724,12740448,12715715,12547881,12483464,12477932,12441313,12147787,12147786,12126783,11916943,11771660,11739459,11473061,10615944,10524196,10480624,10453738,9553761,9344668,8040311,7737162,2211644,20562859,20958205,20981035,21076580 1625124,1601044,1601043,1601042,1601041 5167 AF110280,AF110281,AF110283,AF110284,AF110285,AF110286,AF110287,AF110288,AF110289,AF110290,AF110291,AF110292,AF110293,AF110294,AF110295,AF110296,AF110297,AF110298,AF110299,AF110300,AF110301,AF110302,AF110303,NM_006208,NG_008206,AB032016,AF067177,AF067178,AF110304,AJ242020,AL117378,AL139805,CH471051,AK314870,BC033008,BC059375,BX537580,D12485,M57736 NP_006199,BAA97562,AAD38420,AAD38421,AAF36094,CAC39442,CAI19514,CAI20161,EAW48041,EAW48042,BAG37385,AAH59375,CAD97789,BAA02054,AAA63237,P22413,Q7Z3P5,Q9NS95 Hs.527295 ARHR2|M6S1|NPP1|NPPS|PC-1|PCA1|PDNP1 E-NPP 1|Ly-41 antigen|alkaline phosphodiesterase 1|ectonucleotide pyrophosphatase/phosphodiesterase family member 1|membrane component chromosome 6 surface marker 1|membrane component, chromosome 6, surface marker 1|phosphodiesterase I/nucleotide pyrophosphatase 1|plasma-cell membrane glycoprotein 1|plasma-cell membrane glycoprotein PC-1 2289234,2289252,2289470,2314822,2314975,2314979,2314983,2314990,2314992,2314997,2315001 BW142_H,BW141_H,SLEP15_H,GLUCO126_H,SLEP22_H,INSUL39_H,BW514_H,INSUL37_H,BW513_H,INSUL30_H,GLUCO128_H protein-coding 734409 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 7982964,8579579,8586446,1733949,19477432,19297419,19222837,19212832,19027716,18497954,18337445,18327261,18249559,18175805,18054784,17902023,17804602,17577119,17013094,16782887,16627485,16529861,16436050,16356477,16344560,16117781,15985467,15933052,15897878,15769751,15700135,15489334,15027116,12727817,12633853,12498389,12482591,12477932,12176993,12119361,11559573,10737800,20197381,20888793,16837466,19204739,19204929,19506801,19521548,19522250,19549252,19614625,20231358,20379614,8995394,8889548,8798697,7496154,20356387,20495010 5168 AK315253,AL544867,BC034961,BQ365938,BU731264,CR606785,CR619098,D45421,DA922156,DB468753,DC338843,EU131011,L35594,NM_006209,NM_001130863,AC099818,AC107960,CH471060,D45914,L46720,AI339551,AK124910,AK130313,AK296027,NM_001040092 BAG58795,AAH34961,BAA08260,ABW38316,AAA64785,Q13822,ABM82554,ABM85745,NP_001035181,NP_006200,NP_001124335,EAW91986,EAW91987,EAW91988,EAW91989,EAW91990,BAA08342,AAB00855 Hs.190977 ATX|ATX-X|AUTOTAXIN|FLJ26803|LysoPLD|NPP2|PD-IALPHA|PDNP2 E-NPP 2|autotaxin-t|ectonucleotide pyrophosphatase/phosphodiesterase family member 2|extracellular lysophospholipase D|phosphodiesterase I/nucleotide pyrophosphatase 2|plasma lysophospholipase D protein-coding 1344691 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. [provided by RefSeq] 1580863 10513816,9344668,17275019,16344560,15886225,15072822,15031605,14574404,14533006,11342463,10524196,19418203,20047266,20159259,20379614 5169 AC005587,AF119714,AL121575,AL135904,AL355150,CH471051,AK024899,AK226107,AK292903,AK296080,AK309080,AK310691,AK315893,DB230886,DB239180,DQ234347,EF560735,NM_005021 NP_005012,AAD05192,AAD46160,CAI23322,CAI23323,CAB99214,CAI40481,CAI40482,EAW48044,EAW48045,EAW48046,BAF85592,BAG58836,BAF98784,ABB29976,ABQ59045,O14638,Q308M7,Q5JTL2,Q9H515,Q9NQM9,Q9UNI4,AAI41435,AAI46580 Hs.486489 B10|CD203c|NPP3|PD-IBETA|PDNP3 E-NPP 3|OTTHUMP00000017901|dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3)|dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3)|ectonucleotide pyrophosphatase/phosphodiesterase family member 3|gp130RB13-6|phosphodiesterase I beta|phosphodiesterase I/nucleotide pyrophosphatase 3|phosphodiesterase-I beta protein-coding 1318608 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function) 16344560,12477932,11027689,10048485 22875 NM_014936,AL035701,CH471081,CS265750,AB020686,AJ420515,AK291276,BC018054,BI548305,CA433087,DA261977 NP_055751,CAB56567,EAX04292,CAJ78397,BAA74902,BAF83965,AAH18054,Q9Y6X5,ABM83258,ABM86463 Hs.643497 KIAA0879|NPP4 E-NPP 4|NPP-4|OTTHUMP00000016541|ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function)|ectonucleotide pyrophosphatase/phosphodiesterase family member 4 protein-coding 1349666 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative function) 1580863 15489334,12975309,12477932,11027689,17207965 59084 NM_021572,AL035701,CH471081,AK292842,AK295192,AK312790,AY358514,BC027615,BX647968 NP_067547,CAB56566,EAX04293,BAF85531,BAG58194,AAQ88878,AAH27615,Q9UJA9,ADQ31781 Hs.35198 KIAA0879 E-NPP 5|NPP-5|OTTHUMP00000016542|ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative function)|ectonucleotide pyrophosphatase/phosphodiesterase family member 5 protein-coding 1323210 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 15788404,15489334,14702039,12975309,12477932 133121 NM_153343,AC079080,AC107222,CH471056,AK021943,AK057370,AY358676,BC035035 NP_699174,AAY40908,EAX04683,BAB71455,AAQ89039,AAH35035,Q4W5Q1,Q6UWR7 Hs.297814 MGC33971|NPP6 B830047L21Rik|E-NPP 6|NPP-6|ectonucleotide pyrophosphatase/phosphodiesterase family member 6 protein-coding 1342953 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 15016655,12671034,12885774,16255717,15708357,15489334,15458386,15340161,14702039,12975309,12477932,20839774 339221 NM_178543,AC105337,CH471099,AK126250,AK128662,AY230663,AY358622,BC041453 NP_848638,EAW89566,BAC86504,AAP69661,AAQ88985,AAH41453,Q6UWV6 Hs.114084 ALK-SMase|MGC50179 E-NPP 7|NPP-7|alkaline sphingomyelin phosphodiesterase|alkaline sphingomyelinase|ectonucleotide pyrophosphatase/phosphodiesterase family member 7|intestinal alkaline sphingomyelinase protein-coding 736594 ENSA endosulfine alpha The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863,2303423 9653196,17081983,15489334,15030171,14728987,14728986,14702039,12937617,12477932,11771735,11042152,10480622,8889548,16169070,17353931,20471941 2303423 2029 BC004461,BC068544,BC069208,BE799496,BM771663,BM984677,BM993811,BQ005654,BQ883543,BU075511,BU858280,CB243574,CR457130,CR536578,CR590415,CR594109,CR595679,CR596966,CR597326,CR601564,CR607294,CR607991,CR612382,CR615330,CR622565,CR622963,CR623058,CR749580,T78564,X99906,NM_207042,NM_207046,NM_207045,NM_207044,NM_207043,NM_207047,NM_207168,AJ010966,AL356356,AY326399,AY326400,AY326401,AY326402,AY326403,CH471121,AF067170,AF157509,AF157510,AK001981,AK057673,AK290064,AL711949,AW136940,AW409955,BC000436,NM_004436 AAH00436,AAH04461,AAH68544,AAH69208,CAG33411,CAG38815,CAH18372,CAA68180,O43768,Q5T5H1,ACE87560,ACE86872,NP_004427,NP_996925,NP_996929,NP_996928,NP_996927,NP_996926,NP_996930,NP_997051,CAB65125,CAI15505,CAI15506,CAI15507,CAI15508,CAI15509,CAI15510,CAI15511,CAI15512,AAQ73827,AAQ73828,AAQ73830,AAQ73831,AAQ73829,AAQ73832,EAW53528,EAW53529,EAW53530,EAW53531,EAW53532,EAW53533,AAD32454,AAF80340,AAF80341,BAG50998,BAF82753 Hs.632456 ARPP-19e|MGC4319|MGC78563|MGC8394 OTTHUMP00000218268|OTTHUMP00000218269|OTTHUMP00000218270|OTTHUMP00000218271|alpha-endosulfine 2314803 GLUCO119_H protein-coding 1349921 ENSAP endosulfine alpha pseudogene 170511 NG_001035,AL050324 ENSAP|dJ822J19.1 pseudo 1348920 ENSAP2 endosulfine alpha pseudogene 2 319114 NG_002495,AL163171 pseudo 3516430 ENSAP3 endosulfine alpha pseudogene 3 20379614 100128203 NG_023446,AC016708,AC068051 pseudo 1602180 ENTHD1 ENTH domain containing 1 12477932,15461802,14702039,20237496 150350 NM_152512,AL022319,AL022353,CH471095,Z82206,AK058150,AK093154,BC033895,CR456452 NP_689725,EAW60352,EAW60353,EAW60354,CAQ07276,BAB71688,BAC04075,AAH33895,CAG30338,Q8IYW4,CAQ08616,CAQ09680 Hs.474869 CACNA1I|FLJ25421|dJ370M22.3 ENTH domain-containing protein 1|dJ370M22.3 (EPSIN 2B)|epsin-2B protein-coding 733329 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 1300048,728666,735004,1580863 20487644,8955160,7930580,19450601,19095759,18979366,18812468,18713747,18600538,18485080,18404504,17727821,17560607,17449799,17374358,16920697,16478441,16028070,16011960,15890655,15772061,15590415,15496502,15146241,14702039,12832497,12623446,12482826,12477932,12234494,12067895,11897808,11004484,10997340,10737800,10636909,10471369,10405171,9846014,9226376,8996251,8626624,8529670,20498355,16385451,19877008,19914228,20190036,20379614 728666,735004 953 NM_001098175,NM_001164178,NM_001164179,NM_001164181,NM_001164182,NM_001164183,AL356632,AL365273,CH471066,AJ133133,NM_001776,AJ133134,AK098240,AK098278,AK298648,AK301459,AK304018,AK304836,AK316009,AL547722,AL833543,BC047664,BF839210,BX537522,CD652289,CR612177,CR617781,DC423382,S73813,U87967 NP_001767,NP_001091645,NP_001157650,NP_001157651,NP_001157653,NP_001157654,NP_001157655,CAI16770,CAI16771,CAH73752,CAH73753,CAH73754,EAW49987,EAW49988,EAW49989,EAW49990,EAW49991,CAB41886,CAB41887,BAH12835,BAG62981,BAG64933,BAG65580,BAH14380,AAH47664,AAB32152,AAB47572,P49961,Q86VV3 Hs.576612 ATPDase|CD39|DKFZp686D194|DKFZp686I093|FLJ40921|FLJ40959|NTPDase-1 CD39 antigen|NTPDase 1|ecto-ATP diphosphohydrolase 1|ecto-ATPDase 1|ecto-ATPase 1|ecto-apyrase|ectonucleoside triphosphate diphosphohydrolase 1|lymphoid cell activation antigen protein-coding 733255 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1580863 18656957,17489562,16101300,15799977,15651265,15496502,15489334,14522593,12888562,12477932,11827541,11591653,10510450,9271669 954 NM_203468,NM_001246,AL807752,CH471090,AF144748,BC011003,BC035738,BQ883059,EF495152,U91510 NP_982293,NP_001237,CAI12776,CAI12777,EAW88336,EAW88337,AAD40239,AAH35738,ABP58644,AAB81013,Q5SPY7,Q9Y5L3,ABM83336,ABM86549 Hs.123036 CD39L1|NTPDase-2 CD39 antigen-like 1|CD39-like-1|NTPDase 2|ecto-ATP diphosphohydrolase 2|ecto-ATPDase 2|ecto-ATPase 2|ectonucleoside triphosphate diphosphohydrolase 2 protein-coding 1346927 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 ENTPD3 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD3 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq] 1580863 19120451,17727821,15966724,12477932,11300774,10231536,9676430,9675246,9271669,19743837,20190036 956 NM_001248,AC104186,CH471055,AF034840,AF039917,AK313322,BC029869,BX952692 NP_001239,EAW64600,EAW64601,AAC09236,AAC39884,BAG36127,AAH29869,O75355,Q8N6K2 Hs.441145 CD39L3|FLJ93839|HB6|NTPDase-3 CD39 antigen-like 3|CD39-like 3|NTPDase 3|OTTHUMP00000209228|ecto-ATP diphosphohydrolase 3|ecto-ATPDase 3|ecto-ATPase 3|ecto-apyrase 3|ectonucleoside triphosphate diphosphohydrolase 3 protein-coding 1319889 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 1580863 18029348,20201926,20537721,9556635,16344560,15592455,15200686,12477932,10858452,10393803,9205841 9583 NM_001128930,NM_004901,AC104561,AJ246165,CH471080,AB002390,AF016032,AJ131358,AK300464,BC034477,DB153397,DC341200 NP_001122402,NP_004892,CAB45655,EAW63621,EAW63622,EAW63623,BAA21575,AAC17217,CAB40415,BAG62183,AAH34477,Q8NE73,Q9Y227,ABM81750,ABM84904 Hs.444389 KIAA0392|LALP70|LAP70|LYSAL1|NTPDase-4|UDPase NTPDase 4|apyrase, lysosomal|ectonucleoside triphosphate diphosphohydrolase 4|guanosine-diphosphatase like protein|lysosomal apyrase-like 1|lysosomal apyrase-like protein of 70 kDa|uridine-diphosphatase protein-coding 1343601 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq] 1580863 19117992,18029348,18006831,16465363,16344560,16335952,15698960,12489110,12477932,11041857,10708485,10400613,21074248,9676430,9271669,20601676 957 NM_001249,AC005480,AC005484,CH471061,AF039918,AF136572,AY430094,BC020966,BC130485,BC130487,DB017355 NP_001240,EAW81149,EAW81150,EAW81151,EAW81152,EAW81153,EAW81154,EAW81155,EAW81156,AAC39885,AAK82950,AAR06666,AAI30486,AAI30488,O75356,Q96RX0,ADR82998,ADR83367 Hs.720540 CD39L4|MGC163357|MGC163359|NTPDase-5|PCPH CD39 antigen-like 4|CD39-like 4|ER-UDPase|NTPDase 5|Pcph proto-oncogene protein|ectonucleoside triphosphate diphosphohydrolase 5|nucleoside diphosphatase|proto-oncogene CPH protein-coding 1345865 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative function) ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which is characteristic of NTPases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16713569,16381901,16303743,15489336,15489334,14702039,14529283,12477932,11780052,11230166,11076863,11041856,9676430,9271669,19913121,20628086 955 NM_001247,NM_001114089,AL035252,CH471133,AF039916,AF058296,AK074691,AK094030,AK124625,AK128412,AK293256,AK295242,AK297954,AK300028,AK300514,AK302395,AK303786,AK308626,AL834158,AY327581,BC025980,CR591458,CR592242,CR602530,CR604059,CR936750,CR936765,AK095708 NP_001238,NP_001107561,CAB41571,CAI22588,CAI22589,CAI22590,CAI22591,CAI22592,CAI22593,CAI22594,CAI22595,CAI22596,CAI22597,CAI22598,EAX10095,EAX10096,EAX10097,EAX10098,EAX10099,AAC39883,AAC14279,BAG56788,BAG58234,BAG60268,BAG61839,BAG62226,BAG63709,BAG64743,CAD38864,AAP92131,AAH25980,O60670,O75354,Q5QPI6,Q5QPJ0,Q5QPJ2,Q5QPJ4,Q5QPJ5,Q5QPJ6,CAL38442,ABM84322,ABW03557,CAI22587 Hs.500375,Hs.728143 CD39L2|DKFZp781G2277|DKFZp781K21102|FLJ36711|IL-6SAG|IL6ST2|NTPDase-6|dJ738P15.3 CD39 antigen-like 2|CD39-like 2|NTPDase 6|OTTHUMP00000030475|OTTHUMP00000030478|OTTHUMP00000030479|OTTHUMP00000030483|OTTHUMP00000030484|OTTHUMP00000030485|ectonucleoside triphosphate diphosphohydrolase 6|ectonucleoside triphosphate diphosphohydrolase 6 (putative function)|interleukin 6 signal transducer-2 protein-coding 1321659 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 1580863 20534741,15489334,15164054,14702039,12477932,11278936 57089 NM_020354,AL133353,CS300521,AF269255,AK055540,AK056392,AK123516,AK309735,AK314542,AL713774,AW629210,BC018023,BC119008,BC122857,BX648264,CH471066 NP_065087,CAI14498,EAW49862,CAK32185,AAF90135,BAG51533,BAG37130,AAI19009,AAI22858,Q9NQZ7,EAW49860,EAW49861 Hs.28326,Hs.727582 DKFZp667O124|FLJ30978|FLJ31830|FLJ41522|FLJ95364|LALP1|MGC141913|RP11-483F11.1 NTPDase 7|ectonucleoside triphosphate diphosphohydrolase 7|lysosomal apyrase-like protein 1 protein-coding 1602162 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 17727821,17095758,16752921,12975309,12477932 377841 AY903953,NM_198585,NM_001033113,BX322799,CH471090,AY359088,AY430414,AY903954,BC050293,BC141810 AAW83515,AAI40369,AAI46510,NP_940987,NP_001028285,EAW88389,AAQ89446,AAR04374,AAW83516,AAI41811,Q5MY95,CAM24777 Hs.512562 GLSR2492|NTPDase-8|UNQ2492 E-NTPDase 8|NTPDase 8|NTPDase8|OTTHUMP00000215696|ecto-ATP-diphosphohydrolase|ectonucleoside triphosphate diphosphohydrolase 8|liver ecto-ATP-diphosphohydrolase|nucleoside triphosphate diphosphohydrolase-8 protein-coding 1353973 ENUR1 enuresis, nocturnal 1 7670476 2031 1351202 ENUR2 enuresis, nocturnal 2 2032 1601985 ENY2 enhancer of yellow 2 homolog (Drosophila) 18206972,14702039,12477932,11438676,16169070,16344560,8889548,19615732 56943 NM_020189,AC021237,CH471060,CS300591,AF173296,AF201940,AK000487,AK095651,AK290752,AK316560,BC007870,BC051878,CR457183,CR624813,DA548665,DA762166,NM_001193557,NR_036471,NR_036472,BU737295,DB168034,BX537648 NP_064574,EAW91927,EAW91928,EAW91929,EAW91930,CAK32255,AAF89829,AAF86876,BAF83441,BAG38149,AAH07870,CAG33464,Q9NPA8,NP_001180486 Hs.492555 DC6|FLJ20480|e(y)2 enhancer of yellow 2 transcription factor homolog protein-coding 1353316 EOMES eomesodermin homolog (Xenopus laevis) This gene encodes a member of a conserved protein family that shares a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. A similiar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. [provided by RefSeq] 1580863 9888994,19269192,18940588,18523274,17353897,16273099,15489334,10407135,9434949,20498708,21076068,12477932,17566017,20056084 8320 NM_005442,AC098614,AJ010280,CH471055,AB031038,AK297389,AK297461,AK299499,AK299695,AK316166,BC025363,BC037568,BC131712,HI574298,GN344053 NP_005433,CAB37939,EAW64387,EAW64388,BAA83417,BAH12568,BAH12586,BAH13052,BAH13105,BAH14537,AAH25363,O95936,CBX47638,CAY55962 Hs.591663 TBR2 T-box brain protein 2|T-box brain2|T-brain-2|TBR-2|eomesodermin homolog|t box, brain, 2 protein-coding 1348463 EP300 E1A binding protein p300 This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq] 1580966,2289907,2289908,2312274,2312286,2312287,2312263,2312288,2312265,2311717,2311713,2311716,1580863,2326123 19913121,20628086,20418869,11134049,11116148,11113179,11080476,11030627,11020388,10944526,10942770,10918613,10891508,10824998,10823961,10779504,10753971,10722728,10700188,10673036,10656693,10655477,10607594,10567538,10545951,10545121,10506141,10454579,10454341,10440698,10434034,10327051,10075656,10025406,9887100,9862959,9811832,9809062,9806899,9744860,9733868,9733796,9659901,9625762,9590696,9560267,9528808,9407140,9383702,9343424,9288740,9267036,9096323,9001254,8945521,8918891,8917528,8889549,8889548,8684459,7870179,7566098,7523245,16179804,16601680,15611041,15171254,16001085,15725353,15142377,18485870,17977830,14630807,14612423,14612398,14605447,14550555,12972427,12970734,12960163,12941701,12929931,12917345,12914934,12904943,12887902,12789259,12788643,12750254,12748286,12732631,12724314,12696060,12690203,12646247,12604599,12588875,12527917,12483531,12482985,12482752,12477932,12473110,12453427,12446687,12419806,12408818,12391150,12379484,12379213,12371907,12368347,12242694,12237408,12208951,12189208,12162806,12136661,12107410,12107188,12101186,12082103,12050117,12015309,11997499,11994297,11983172,11978637,11967287,11959990,11956210,11943779,11940656,11940655,11940591,11940575,11931769,11931765,11912212,11909954,11864910,11864601,11823643,11788592,11782371,11773079,11744733,11739381,11733503,11726517,11707411,11701890,11691934,11689449,11689053,11564893,11564735,11559821,11547919,11481323,11463834,11463815,11448987,11430825,11349124,11296295,11279157,11278891,11268218,11264182,19281832,19275888,19273602,19270680,19217391,19203349,19200568,19188451,19183483,19166313,19146826,19124506,19074848,19064572,19041714,18995842,18950845,18809579,18797151,18722353,18660489,18644873,18583929,18542060,18495195,18408753,18397880,18243116,18083712,18070920,17975022,17761950,17707401,17623675,17469184,17438265,17410209,17403783,17382325,17299436,17272271,17250547,17226766,17220215,17126870,17065349,16922677,16916647,16809786,16804902,16708385,16704985,16696975,16687403,16672693,16636310,16630816,16622451,16582966,16581781,16461764,16344560,16219772,16109717,15965232,15964811,15951563,15943569,15917652,15890677,15806138,15731352,15718293,15706485,15705864,15701643,15649887,15641773,15632193,15615775,15509808,15345715,15337767,15297880,15224190,15186775,15146197,15138260,15123817,15117818,15075319,15066326,14716005,14645221,20471956,20587414,20810990,12408825,16712791,12435739,12040021,10205054,12586840,10893273,9194565,15261140,10518217,18029348,19344692,19336370,19332536,19299466,11782467,11163245,9710619,12479814,11867769,10944516,10593900,11283613,10336495,11371641,10199400,16169070,10490830,10497212,10464260,10887155,11073990,11073989,11443112,11486036,7758944,10973497,9858599,11239394,10933397,10825153,11304541,10846067,10851229,12514134,12730195,14691252,8824223,14585496,12101239,15175427,15933712,15834423,15782138,15893728,15350211,9920895,15380363,15653507,15333839,15616592,9679056,15558054,15688032,15315758,14767476,15691758,8986769,15664194,11029584,15494311,14761960,10490106,11196199,15175157,10497242,15225550,8621548,12651889,16319895,17158926,17217336,19062177,19276081,19279113,19297328,19948376,20936779,20438716,20448036,14662860,15295102,16326861,16478997,16537920,16613856,16617102,16645043,16678111,16717280,16728531,16734381,16787918,18559531,9660935,10075648,10207070,10330164,10362258,10364202,10438822,10567378,10648616,10708567,10801418,10866661,10899165,10924503,10999956,11073993,11096067,11252719,11278389,11340085,11433299,11481322,11585930,11604511,11755530,11756538,11804596,11896584,11907332,12071960,12244100,12384515,12402037,12456660,12569362,12569367,12649209,12697832,12743039,12776737,12778114,12840021,12861022,14576772,14612417,14633989,14726487,14752096,14755691,14976201,14985122,15004546,15024082,15060161,15102857,15136591,15171256,15189737,15220332,15542844,15572674,15632055,15824515,15843474,16024799,16051665,16325578,16337145,16356938,16397300,16415179,16438982,16648821,16652169,16782091,16931570,17157259,17923090,17970752,18612383,19395477,19489936,19539243,19569050,19570987,19680224,19710011,19730683,19805293,19838210,19880525,19880750,19915063,19966416,20014264,20019387,20069553,20081228,20097195,20101207,7760804,9194564,9488451,9660747,9742083,9812974,9826778,9843502,9843571,9989503,9990060,20676058,16876108,16917507,16923966,16930961,17050673,17065153,17073437,17075044,18765668,18850005,19001415,19622798,19754958,19801601,19828133,20720004,20932315 1580966,2289907,2289908,2312274,2312286,2312287,2312263,2312288,2312265,2311717,2311713,2311716,2326123 2033 NM_001429,NG_009817,AL035658,AL080243,AL096765,CH471095,DQ229147,AA235167,AI302618,BC053889,BQ428177,BQ921059,BQ930911,CA393789,CB132795,CB155618,CF130065,CN278277,CN278282,D53020,DB047746,N57495,U01877,CS498706 NP_001420,CAH70384,CAH73688,EAW60408,ABB16440,AAH53889,AAA18639,Q09472,Q38HM2,Q7Z6C1,BAG10860,AAI72280,CAM82745 Hs.655211,Hs.517517 KAT3B|p300 E1A-associated protein p300|E1A-binding protein, 300kD|histone acetyltransferase p300|p300 HAT protein-coding 1312347 EP400 E1A binding protein p400 1580863 16510874,20876283,14966270,19169279,18985155,18413597,16601686,15741165,15655109,15489334,15302935,15196461,14702039,12963728,12477932,11509179,11347906,10819331,9225980,12421765,16510875,19454010,17721438,18029348,20351180,20548951 57634 NM_015409,AC131009,AC137590,AC137632,CH471054,AB040931,AB058721,AK025040,AK074395,AK096311,AK097299,AK124012,AK127058,AL832718,AW376113,AY044869,BC016068,BC037208,BC064554,BC150291,BX369075,U80743 NP_056224,EAW98534,EAW98535,EAW98536,BAA96022,BAB47447,BAC04759,AAK97789,AAH37208,AAH64554,AAI50292,AAB91441,Q96L91 Hs.595201 CAGH32|DKFZP434I225|FLJ42018|FLJ45115|P400|TNRC12 CAG repeat protein 32|E1A-binding protein p400|domino homolog|hDomino|p400 SWI2/SNF2-related protein|p400 kDa SWI2/SNF2-related protein|trinucleotide repeat containing 12|trinucleotide repeat-containing gene 12 protein protein-coding 1604699 EP400NL EP400 N-terminal like 12477932,14702039 347918 NR_003290,AC137590,AC138466,AK090610,AK091234,AK097720,AK126212,AK128208,AK289710,AL117637,BC015414,BC066974 BAG52194,BAC03617,BAC05150,BAC86487,BAF82399,CAB56026,Q6ZTU2 Hs.122115 DKFZp434I225|FLJ33915|FLJ44224|FLJ46340|MGC87589 pseudo 68594 EPAS1 endothelial PAS domain protein 1 632961,734934,1580977,1580974,1580863 19913121,20158574,20628086,18055454,18024825,17907154,17852557,17570486,17562539,17555795,17526729,17495954,17477366,17452775,17437013,17418410,17417656,17324924,17285230,17220275,17140440,17097563,16920734,16885164,16826581,16760477,16554418,16284786,16278385,16263938,16208515,16098466,15964822,15653678,15652356,15598469,15489334,15247232,15240563,15231748,15217953,15192019,15156561,15039136,14985465,14966910,14744852,14702039,14691554,14668441,14645546,14512791,20395290,20595611,20304964,16407130,20496369,20632821,20824203,20936779,20559438,21073737,21131975,9079689,15261140,9000051,9576906,11782478,19498162,19477429,19436307,19287200,19252526,19238077,19208626,19129502,19080330,19077391,19030186,19021062,19010893,18957292,18945681,18787502,18728663,18711622,18650473,18625704,18508787,18442887,18423372,18420194,18378852,18319549,18077449,12697324,12588875,12477932,12464608,12209691,12123724,11823643,11313887,11018023,10823831,10202154,9110174,8619474,17967880,18372249,14556007,9113979,12823854,9704006,20211142,20961960,20965423,21030426,20224786,20039838,20416395,20551700,15474027,17024177,17718430,18000879,19322701,19386601,19401348,19483472,19541651,19590888,19660915,19706526,19805377,19837976,19903792,19940151,19955413,20028863,20032376,20204822,20354189,20375133,20513003,20534544,8889548 632961,734934,1580977,1580974 2034 NM_001430,AC016696,AC016912,CH471053,AF052094,AK123845,BC015869,BC051338,CD109908,CR623669,CR624321,U51626,U81984,BM671511,NG_016000 NP_001421,AAX93237,AAY14704,EAX00255,BAG53969,AAH51338,AAC51212,AAB41495,Q53SM6,Q99814 Hs.468410 ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 EPAS-1|HIF-1-alpha-like factor|HIF-1alpha-like factor|HIF-2-alpha|HIF2-alpha|PAS domain-containing protein 2|basic-helix-loop-helix-PAS protein MOP2|class E basic helix-loop-helix protein 73|endothelial PAS domain-containing protein 1|hypoxia-inducible factor 2 alpha|hypoxia-inducible factor 2-alpha|member of PAS protein 2 protein-coding 1605128 EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-spectrin gene (MIM 182860), the beta-spectrin gene (MIM 182870), or the band 3 gene (MIM 109270).[supplied by OMIM] 20797695,16669616,3693401,6894932,16254212,9598318,16060676,19338061,18952129,18691159,18212055,18079699,17994571,17715393,17298666,17087826,16881872,16710414,16537540,16368544,16368534,16157202,15834631,15731777,15714879,15611095,15564380,15527767,15525677,15489334,15238148,15184364,15040429,12960380,12901833,12807908,12601556,12522012,12477932,12427749,12239178,12181426,12130521,12049649,12044158,11737230,11432737,11423550,11071908,11017195,11003675,10887144,10874042,10692436,10359596,10189366,9694734,9660868,9645944,9531554,9207085,8434260,8423235,7937897,7673158,3531202,3467321,3375238,3223413,3194408,2968981,2808371,2384598,2171679,2022644,1647028,1639060,1430200,12542678,17353931,18029348,16344560,19729518,20007969,8922391 2035 NM_203343,NM_004437,AF156226,AL009181,AL138785,AL357500,CH471059,AB209649,AF156225,NM_203342,AI819579,AK299093,AK299736,AK307816,AK310655,AL833483,BC009063,BC039079,BC096104,BC096105,BC113841,BC114450,BE257308,BM465039,BM740451,BM997767,BU184161,CR601097,CR622465,J03796,M14993,M61733,R94392,AI076831,DA480006,NG_013344,NM_001166005,NM_001166006,NM_001166007 NP_976217,NP_976218,NP_004428,AAD42223,CAI21966,CAI21967,CAI21968,CAI21969,CAI21970,CAH71636,CAH71637,CAH71638,CAH71639,EAX07662,EAX07663,EAX07664,EAX07665,EAX07666,EAX07667,EAX07668,BAD92886,AAD42222,BAH12948,BAH13113,AAH39079,AAH96104,AAH96105,AAI13842,AAI14451,AAA35793,AAA35794,AAA35795,AAA35797,P11171,Q1WWM3,Q29RX4,Q4VB86,Q4VB87,Q59F12,ABW03751,NP_001159477,NP_001159478,NP_001159479 Hs.708933,Hs.175437,Hs.712722 4.1R|EL1|HE EPB4.1|OTTHUMP00000003770|OTTHUMP00000003771|P4.1|band 4.1|erythrocyte surface protein band 4.1|protein 4.1 protein-coding 733700 EPB41L1 erythrocyte membrane protein band 4.1-like 1 Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The protein encoded by this gene is a neuronally-enriched protein that is structurally similar to EPB41. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them has been determined. [provided by RefSeq] 20471030,19165527,17081983,16964243,16368544,15489334,15345747,14702039,14697242,12676536,12574408,12477932,12444087,12181426,11780052,11136977,11050113,10594058,10414974,9828140,9570967,9205841,18311135,20468064 2036 NM_012156,AL035420,AL121895,CH471077,AB002336,AK096848,AK126875,AK299817,AY049789,BC013885,BC040259,BC113858,BC113899,BC131796,BI457725,BX537978,CR936825,NM_177996 NP_818932,NP_036288,CAI95014,CAI95015,CAI95016,CAI95017,CAI95018,CAI95019,CAI95020,CAI95021,CAI95022,CAI95023,CAI95024,CAI95025,CAI95027,CAI95029,EAW76144,EAW76145,EAW76146,BAA20796,BAG53378,BAC86733,BAH13139,AAL15446,AAH13885,AAH40259,AAI13859,AAI13900,AAI31797,CAD97941,Q4VXN0,Q4VXN1,Q4VXN2,Q4VXN5,Q4VXN6,Q4VXN7,Q4VXN8,Q7Z3C9,ABM82278,ABM85457,ACE87436,ACE86750,ACE87847,Q9H4G0,ACT64366 Hs.722186 4.1N|DKFZp686H17242|KIAA0338|MGC11072 OTTHUMP00000030826|OTTHUMP00000030827|OTTHUMP00000030829|band 4.1-like protein 1|erythrocyte protein band 4.1-like 1|neuron-type nonerythroid protein 4.1|neuronal protein 4.1 protein-coding 1348118 EPB41L2 erythrocyte membrane protein band 4.1-like 2 1580863 18029348,9598318,18023480,16964243,16344560,15302935,15138281,8619474,17353931,12477932,12239178,12181426,12044158,11274145,11050113,9828140,9531554,9110174,8889548,12974671,20936779,15851553,15116094,20189245,20379614 2037 AY512660,BC034718,BI461477,BM679819,CR614135,CR749262,CR936793,DA108957,AY047584,NM_001135554,NM_001431,NM_001135555,AL109938,AL357496,AL358943,AL590014,CH471051,AB209522,AF027299,AF054999,AJ251209,AK127088,AK295124,AK295958,AK307764,AL050384,AL698619,AA428071,BQ446747,CD724095,NM_001199388,NM_001199389 AAK95850,AAR97579,CAH18118,O43491,O60642,Q59FD8,Q5JRN3,Q68DV2,Q6R5J7,Q6ZSX4,Q9H1C6,Q9UG62,NP_001129026,NP_001422,NP_001129027,CAI20310,CAI40759,CAI40760,CAI40761,EAW48061,EAW48062,EAW48063,EAW48064,EAW48065,BAD92759,AAC16923,AAC09353,CAC17607,BAC86822,BAG58150,BAG58738,CAB43682,NP_001186317,NP_001186318,AAH34718 Hs.486470 4.1-G|DKFZp781D1972|DKFZp781H1755 4.1G|OTTHUMP00000017197|band 4.1-like protein 2|erythrocyte membrane protein band 4.1 like-protein 2|generally expressed protein 4.1 protein-coding 732325 EPB41L3 erythrocyte membrane protein band 4.1-like 3 1300356,1580863 15116094,20651987,20936779,16169070,17474147,19299464,19796685,20379614,12234973,9892180,19165527,19115211,18554153,17640904,17260099,16964243,16420693,16368544,16213361,16205641,16189514,16152585,16142420,15837747,15731777,15688033,15517334,15489334,15345747,15334060,15324660,15138999,14702039,12542678,12478663,12477932,12421765,12115567,11996670,10888600,10231032,9828140,8401585,7566098,17353931 1300356 23136 NM_012307,AP005059,AP005671,CH471113,AB023204,AF069072,AF515797,AK094952,AK128531,AK292583,AK294610,AK294690,AK295453,AK297406,AK303679,AK307751,AK307904,AK314438,AL832598,BC006141,BC008377,GN344055 NP_036439,EAX01644,EAX01645,BAA76831,AAC79806,AAM48247,BAG52962,BAG54690,BAF85272,BAH11823,BAH11849,BAH12074,BAH12571,BAH14014,BAG37049,AAH06141,AAH08377,Q8NFG9,Q96HL7,Q9Y2J2,CAY55963 Hs.213394 4.1B|DAL-1|DAL1|FLJ37633|KIAA0987 band 4.1-like protein 3|differentially expressed in adenocarcinoma of the lung protein 1|erythrocyte protein band 4.1-like 3 protein-coding 1314419 EPB41L4A erythrocyte membrane protein band 4.1 like 4A Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the cytoskeleton and plasma membrane (Ishiguro et al., 2000 [PubMed 10874211]).[supplied by OMIM] 1580863 17081983,14702039,12477932,10874211,10783258,8358434,7983158,20379614 64097 NM_022140,AC010261,AC010265,AC104126,CH471086,AA350575,AA406206,AB030240,AK021578,AK096057,AK123285,BC015441,BC031042,BC114632,BC114942,CB048933,AL117425 NP_071423,EAW49010,EAW49011,EAW49012,EAW49013,BAB17229,BAC04690,AAH31042,AAI14943,Q8N8X1,Q8NEH8,Q9HCS5,AAI60044 Hs.584954 DKFZp566L203|EPB41L4|FLJ38738|NBL4 band 4.1-like protein 4A|erythrocyte protein band 4.1-like 4 protein-coding 1320612 EPB41L4B erythrocyte membrane protein band 4.1 like 4B 10783258,14576147,14521927,10603000,20379614 54566 NM_019114,NM_018424,AL358815,AL359963,CH471105,AA588823,AB032179,AB209187,AF153416,AF153418,AJ420414,AK000388,AK025249,AL353947,CR618146 NP_061987,NP_060894,CAI15129,CAI15130,CAH71092,CAH71093,EAW59041,EAW59042,EAW59043,EAW59044,BAA96079,BAD92424,AAG43366,AAG43368,BAA91133,BAB15091,CAB89252,Q59GC2,Q9H329,Q9H709,Q9NSG9,Q9NX84,AAI56132 Hs.591901 CG1|DKFZp761N1814|EHM2|FLJ21596 EHM2|FERM-containing protein CG1|band 4.1-like protein 4B protein-coding 1322786 EPB41L5 erythrocyte membrane protein band 4.1 like 5 12477932,10997877,17920587,14702039 57669 NM_020909,AC012363,AC016691,AC079879,CH471103,AB046768,AK023019,AK290895,AK304831,AK307458,BC032822,BC054508,DB524549,NM_001184937,NM_001184938,NM_001184939 NP_065960,AAY14798,AAX88859,AAY14980,EAW95233,EAW95234,EAW95235,EAW95236,BAB13374,BAB14360,BAF83584,BAG65576,AAH32822,AAH54508,Q4ZG32,Q53RT1,Q53T34,Q9HCM4,ACE87479,ACE86792,NP_001171866,NP_001171867,NP_001171868 Hs.369232 BE37|FLJ12957|KIAA1548|YMO1 OTTHUMP00000206734|band 4.1-like protein 5 protein-coding 1313258 EPB42 erythrocyte membrane protein band 4.2 Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1598910 8608138,12970870,1350227,19269200,16718373,14551146,12576321,12477932,12434312,12393467,12176912,12049649,11936273,11390390,10610180,10333496,8889548,8499466,7925374,7819064,7803799,7772513,7626035,3276554,2968981,2300550,2052563,1826225,1729896,1689063,1558976,1544941,1284644,12646258,20007969,21039340 1598910 2038 NM_000119,NM_001114134,NG_011505,AC068724,AF206511,AF206512,CH471125,L06519,AK297146,AK297663,BC096093,BC096094,BC096095,BC099627,BU741892,CR593742,CR600242,CR607973,DW451374,M29399,M30646,M30647,M60298 NP_000110,NP_001107606,AAF64425,EAW92591,EAW92592,AAA52385,BAH12509,BAH12644,AAH96093,AAH96094,AAH96095,AAH99627,AAA35798,AAA36402,AAA36401,AAA74589,P16452,Q4KKX0,Q4VB96 Hs.368642 MGC116735|MGC116737|PA|SPH5 P4.2|erythrocyte membrane protein band 4.2|erythrocyte protein 4.2|erythrocyte surface protein band 4.2 protein-coding 1322873 EPB49 erythrocyte membrane protein band 4.9 (dematin) Dematin, or EPB49, is an actin-bundling protein originally identified in the erythroid membrane skeleton. Its actin-bundling activity is abolished upon phosphorylation by cAMP-dependent protein kinase and is restored after dephosphorylation (Rana et al., 1993 [PubMed 8341682]).[supplied by OMIM] 1580863 20396930,8341682,19030997,16697408,16344560,15489334,14702039,14660664,12477932,18541383,8608138,16169070,14623284,7615546,12011427,18029348,19241372 2039 NM_001114137,NM_001114139,NM_001114136,NM_001114135,NM_001978,NM_001114138,AC091171,CH471080,AK055842,AK091581,AK289650,AK295452,AK308807,BC006318,BC017445,BC052805,BI222385,BT007396,DA170493,DA372459,DA521027,L19713,U28389,AB209718 NP_001107609,NP_001107611,NP_001107608,NP_001107607,NP_001969,NP_001107610,EAW63724,EAW63725,EAW63726,BAG51582,BAG52385,BAF82339,BAG58387,AAH06318,AAH17445,AAH52805,AAP36060,AAA58438,AAC50223,Q08495,Q59EU3,BAD92955,ABM83705,ABM87025,ACE87766,ACE87087 Hs.106124 DMT|FLJ78462|FLJ98848 dematin protein-coding 1314407 EPC1 enhancer of polycomb homolog 1 (Drosophila) 1580863 10976108,18984674,17192267,16964243,15647280,15536069,15489334,15196461,15164054,14966270,14702039,12963728,12477932,11318600,10527689,9237112,16385451,16387653,19484761 80314 AK299676,AK309309,AK309822,BC036529,CR749375,NM_025209,AF069038,AL158834,AL391839,CH471072,AF040182,AF062180,AF088632,AF277374,AF286905,AK024329,AK092304 BAG61585,AAH36529,CAH18228,Q68DJ2,Q9H2F5,NP_079485,AAC26728,CAH70821,CAH70822,CAH70823,CAH70453,CAH70454,CAH70455,EAW85972,EAW85973,EAW85974,EAW85975,AAC02458,AAC18216,AAC96247,AAG41402,AAK60501,BAB14888,BAC03857 Hs.167805,Hs.720416,Hs.722439 DKFZp781P2312|Epl1 OTTHUMP00000019413|enhancer of polycomb 1|enhancer of polycomb homolog 1 protein-coding 1316366 EPC2 enhancer of polycomb homolog 2 (Drosophila) 18464913,18330920,15647280,15489334,14966270,14702039,12477932,16387653,20379614,21123754 26122 BC093818,BC093820,NM_015630,AC016763,AC017080,CH471058,AF286904,AK001433,AK002010,AK125789,AL117558 CAB55993,AAH93818,AAH93820,Q52LR7,Q53SL1,Q53SN6,NP_056445,AAY24275,AAY14754,EAX11547,EAX11548,EAX11549,AAK60500,BAA91688,BAA92032,BAG54249 Hs.23270 DKFZp566F2124|EPC-LIKE enhancer of polycomb homolog 2 protein-coding 1345999 EPCAM epithelial cell adhesion molecule This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq] 1580863 18025791,1729376,19585654,19443410,19401692,19302955,19294417,19177550,19157508,19150350,19141643,19136966,19132011,19098912,19019843,19012040,19002182,18949402,18688077,18572020,18508581,18508568,18398839,18316609,18006828,17981779,17579117,17186549,17143526,16616808,16344560,16096650,16054130,15942643,15922867,15637741,15557427,15489334,15342556,15240533,15195135,15131054,15102668,14557747,12926061,12642870,12592372,12477932,11306819,11080501,11058587,10761711,10728619,8382772,7693697,3770992,2911574,2469722,2463074,2333300,2108441,15328177,20707805,20137349,20012351,18285265,19455606,19574774,19584271,19723880,19785009,19820410,19850885,19925656,20006402,20064925,20097833,20606680,20628624,20683652 4072 X14758,NM_002354,NG_012352,AC079775,CH471053,CQ800737,M93036,AK026585,AW050533,BC014785,BP262680,CR542259,CR542283,CR593061,CR626162,DA963872,DB044092,M26481,M32306,M32325,M33011 AAA35861,CAA32870,P16422,ABM82264,ABM85446,NP_002345,AAY15095,EAX00218,EAX00219,CAG28087,AAB00775,AAH14785,CAG47055,CAG47078,AAA59543,AAA35723,AAA36151 Hs.542050 CO-17A|CO17-1A|DIAR5|EGP|EGP-2|EGP314|EGP34|EGP40|ESA|Ep-CAM|GA733-2|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|TACST-1|TACSTD1|TROP1|hEGP-2 OTTHUMP00000200307|OTTHUMP00000200426|adenocarcinoma-associated antigen|cell surface glycoprotein Trop-1|epithelial cell adhesion molecule|epithelial glycoprotein 314|human epithelial glycoprotein-2|major gastrointestinal tumor-associated protein GA733-2|membrane component, chromosome 4, surface marker (35kD glycoprotein)|tumor-associated calcium signal transducer 1 protein-coding 1343278 EPDR1 ependymin related protein 1 (zebrafish) The protein encoded by this gene is a type II transmembrane protein and is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium dependent cell adhesion. [provided by RefSeq] 12477932,11943480,11749721,11248421,18374504,16713569,12690205,20379614 54749 NM_017549,AC018634,AF361252,CH236951,CH471073,AJ250475,AK290885,AK309180,AY027862,BC000686,BC018299,CR596656,CR624676,DQ914439 NP_060019,AAK26441,EAL23982,EAW94086,EAW94087,CAB60269,BAF83574,AAK15788,AAH00686,AAH18299,ABI84106,Q96J80,Q9UM22 Hs.563491 EPDR|MERP-1|MERP1|UCC1 mammalian ependymin related protein 1|mammalian ependymin-related protein 1|upregulated in colorectal cancer gene 1 protein protein-coding 1605556 EPGN epithelial mitogen homolog (mouse) 2317963 15611079,15340161,12975309,12477932,11278323 2317963 255324 AC097470,AK289455,AY358920,BC127938,BC127939,DQ235264,DQ235265,DQ235266,DQ235267,DQ235268,DQ235269,NM_001013442 NP_001013460,BAF82144,AAQ89279,AAI27939,AAI27940,ABB60043,ABB60044,ABB60045,ABB60046,ABB60047,ABB60048,Q6UW88,AAI40432,AAI46548 Hs.401237 ALGV3072|EPG|FLJ75542|PRO9904|epigen OTTHUMP00000219188|OTTHUMP00000219190|OTTHUMP00000219191|OTTHUMP00000219194|epigen protein-coding 1312265 EPHA1 EPH receptor A1 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq] 1580863 19913121,20628086,2825356,19277044,19118217,19011600,18990944,18728013,18593464,18590698,18566674,18308734,17980912,16964243,16862074,16737551,16344560,15951569,15146197,12853948,12477932,11519828,11256076,11128993,10730216,10502115,10369740,10207129,9576626,9530499,9267020,8755474,19949912,14968112,15761153,18802966,19525919,20043122 2041 AC092214,AF101171,CH236959,CH471198,AA723562,AA723620,AA788809,AI057542,AK290351,AK313263,AU131228,BC130291,BC144156,CD653381,CN289899,CN289901,EU826604,EU826605,M18391,NM_005232,Z27409 NP_005223,AAS07458,AAD43440,EAL23789,EAW51845,EAW51846,EAW51847,BAF83040,AAI30292,ACF47640,ACF47641,CAA81796,P21709,AAA36747 Hs.89839 EPH|EPHT|EPHT1|MGC163163 eph tyrosine kinase 1|epha1|ephrin type-A receptor 1|erythropoietin-producing hepatoma amplified sequence|oncogene EPH|soluble EPHA1 variant 1|soluble EPHA1 variant 2|tyrosine-protein kinase receptor EPH protein-coding 1347579 EPHA10 EPH receptor A10 Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM] 737633 18819711,15777695,15489334,14702039,12477932 737633 284656 NM_001099439,NM_173641,AC104336,AJ872185,CH471059,AJ781169,AK090974,AK131215,AK309089,AY726560,BC039363,BC041360,BC067734,BC112933 NP_001092909,NP_775912,CAI43321,EAX07321,EAX07322,EAX07323,CAG77605,BAC03561,BAD18404,AAH41360,AAH67734,AAI12934,Q4G0R4,Q5JZY3,Q6ZNH1,Q8N289 Hs.129435 FLJ16103|FLJ33655|MGC43817 EphA10s protein|ephrin type-A receptor 10 protein-coding 1316258 EPHA2 EPH receptor A2 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. [provided by RefSeq] 1580975,1580976,1580863 20516612,20571968,7918100,2174105,19306328,19264906,19193766,19074825,19005574,18991394,18768213,18648668,18593464,18566674,18443431,18425361,18198190,18172271,18097589,18079969,18059341,17980912,17519535,17374733,17332925,17192257,17154180,17050670,16969087,16737551,16481735,16428472,16236711,16103880,16098464,16051609,15951569,15671550,15649254,15561974,15498927,15249202,15193868,14965363,14767510,14679012,14633601,12907451,12810680,12651595,12650608,12576426,12496371,12496364,12494475,12477932,12467573,12400011,12370823,12351647,12167657,12147253,11968011,11256076,11146556,11128993,10730216,10655584,10607706,10502115,19950554,15297418,10207129,9576626,9530499,9267020,9245480,9119409,8755474,8183555,7982920,7973638,7543898,7536959,15688035,20679435,14692877,14988728,15657067,18210872,18339848,18794797,19048396,19101799,19531623,19573808,19642143,19649315,19690146,19724921,19828693,19898482,19934338,19934926,19948216,20028874,20197042,20223987,20228801,20361013,7890684,19949912,20388851,20360610,19223760,15777695 1580975,1580976 1969 NM_004431,AL451042,AY052403,CH471167,CS026995,AK296788,BC008655,BC037166,CB991812,EU826606,M59371,AI302504,NG_021396,HH976540,CS542490,GM868963,GM879993 NP_004422,CAH71943,AAL11019,EAW51769,EAW51770,CAI61887,BAG59366,AAH08655,AAH37166,ACF47642,AAA53375,P29317,Q8IZL0,Q96HF4,ABM86157,ABW03777,CBX51742,CAM91182,CAT16927,CAV28316 Hs.171596 ARCC2|ECK epha2|ephrin type-A receptor 2|epithelial cell receptor protein tyrosine kinase|soluble EPHA2 variant 1|tyrosine-protein kinase receptor ECK protein-coding 68566 EPHA3 EPH receptor A3 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq] 2301766,1581943,1304509,68243,2317720 20589678,17192257,16941478,16239146,14759258,14702039,14697337,12477932,11877430,11870224,11256076,11128993,10987298,10730216,10207129,9932438,9751130,9685371,9576626,9530499,9267020,9245480,9195962,8559144,8188238,8070404,1311845,11494128,9632142,1737782,19351817,18814179,18547520,18385452,20838624,15355990,16186805,19469653,19678838 2301766,1581943,1304509,68243,2317720 2042 NM_182644,NM_005233,A28003,AC107028,AC109129,AC138973,CH471110,AF213459,AF213460,AK024352,AK291411,BC026247,BC063282,M83941,HM437236,NG_023239,CS542492,GM868965 NP_005224,NP_872585,CAA01906,EAW68857,AAG43576,AAG43577,BAF84100,AAH63282,AAA58633,P29320,Q6P4R6,ADN43067,CAM91183,CAT16931 Hs.123642 EK4|ETK|ETK1|HEK|HEK4|TYRO4 EPH-like kinase 4|OTTHUMP00000213904|TYRO4 protein tyrosine kinase|eph-like tyrosine kinase 1|ephrin type-A receptor 3|human embryo kinase 1|tyrosine-protein kinase TYRO4|tyrosine-protein kinase receptor ETK1 protein-coding 1345605 EPHA4 EPH receptor A4 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq] 1580863 7898931,18837080,18790757,18695888,18628988,17847007,16965393,16574431,16540516,16365308,15994237,15489334,15313894,14576067,12775584,12761826,12496762,12477932,12383247,12084815,11336673,11256076,11128993,11085874,10730216,10607706,10366629,10207129,9576626,9530499,9484836,9373149,9345045,9267020,8889548,8755474,8622893,8125298,20098747,19949912,9632142,15688035,20678482,20100581 2043 AC010899,AC079834,CH471063,CS163790,AA987900,AF075040,AK225181,AK290306,AK300772,AK312380,AL603465,BC016981,BC026327,BC105000,BC105002,BM676153,BM679073,BM680394,BM712812,BM724253,BQ009361,L36645,NM_004438,GM868967 Q58F15,NP_004429,AAY24283,AAY24284,AAX81994,EAW70785,EAW70786,CAJ32200,BAF82995,BAH13344,BAG35298,AAH26327,AAI05001,AAI05003,AAA74246,P54764,Q53TA0,Q53TA1,Q584H6,CAT16933 Hs.371218 HEK8|SEK|TYRO1 EK8|EPH-like kinase 8|OTTHUMP00000164185|OTTHUMP00000204491|TYRO1 protein tyrosine kinase|ephrin type-A receptor 4|receptor protein-tyrosine kinase HEK8|tyrosine-protein kinase TYRO1|tyrosine-protein kinase receptor SEK protein-coding 1605127 EPHA5 EPH receptor A5 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19949912,7898931,16737551,16381901,15489336,11256076,11230166,11128993,11076863,10730216,10531456,10516308,10207129,9576626,9530499,9321687,9321686,9267020,9191074,8755474,7528718,15485908,7973638,10064801,10375373,10607706,12477932,19733895,20379614 2044 NM_004439,AC018683,AC104137,AC105923,AC115223,CH471057,AB209375,AK307826,BC136257,BC136258,BC143427,BX537946,NM_182472,L36644 NP_872272,NP_004430,EAX05536,EAX05537,EAX05538,EAX05539,BAD92612,AAI36258,AAI36259,AAI43428,CAD97914,AAA74245,P54756,Q59FT4,CAL37927,CAL38365 Hs.654492 CEK7|EHK1|HEK7|TYRO4 EHK-1|EK7|EPH homology kinase 1|EPH-like kinase 7|Eph homology kinase-1|OTTHUMP00000218917|OTTHUMP00000223029|ephrin type-A receptor 5|receptor protein-tyrosine kinase HEK7|tyrosine-protein kinase receptor EHK-1 protein-coding 1605546 EPHA6 EPH receptor A6 20950786,16641997,16344560,15271258,15194108,14986683,14726470,14702039,12975309,12477932,12471243,12084815,11128993,10730216,10607706,19850283,20011078,20379614,8755474 285220 HC006940,NM_001080448,NM_173655,AC107482,AC108714,AC109782,AC110717,AC117439,AC117470,AC119745,AC130510,AC134730,AC135369,CH471052,AK092565,AK302040,AK302080,AK310249,AL133666,AY358738,BC031881,BC067287,BX099374,DA385338,DN991634,DR731365,DV080244 CBH19275,NP_001073917,NP_775926,EAW79885,BAG52574,BAG63434,BAG63468,CAB63775,AAQ89098,Q6UWM0,Q9UF33,AAI56734 Hs.653244 DKFZp434C1418|EPA6|FLJ35246|PRO57066 EHK-2|EPH homology kinase 2|OTTHUMP00000217552|OTTHUMP00000217916|OTTHUMP00000217917|ephrin receptor EphA6|ephrin type-A receptor 6 protein-coding 732959 EPHA7 EPH receptor A7 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq] 2301957,1580863,1304509,70732 14574404,12477932,11256076,11128993,11029633,10730216,10366629,10207129,9892426,9707552,9576626,9530499,9267020,9010230,8889548,8755474,7898931,18821581,18366728,17726105,17669470,17236141,16344560,16007213,15489334,14718574,20126984,11152476,19949912,20379614 2301957,1304509,70732 2045 NM_004440,AL121966,AL354857,AL591036,CH471051,AB209269,AK313529,AL699163,BC027940,BC126125,BC126151,BC143857,BC143858,BM677016,DA503795,L36642,GM868969 NP_004431,CAC19520,CAI19722,CAH72780,CAH73650,EAW48518,EAW48519,EAW48520,EAW48521,BAD92506,BAG36308,AAH27940,AAI26126,AAI26152,AAI43858,AAI43859,AAA74243,Q15375,CAT16938 Hs.73962 EHK3|HEK11 EHK-3|EK11|EPH homology kinase 3|EPH-like kinase 11|Eph homology kinase-3|ephrin type-A receptor 7|receptor protein-tyrosine kinase HEK11|tyrosine-protein kinase receptor EHK-3 protein-coding 1350663 EPHA8 EPH receptor A8 This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq] 1299522,1580863 1648701,19240061,15782114,15271258,15194108,14986683,12681484,12477932,11416136,11256076,11128993,10819331,10730216,10515610,10498895,10207129,9576626,9568399,9530499,9361271,9267020,9214628,9053851,16710414,20029409 1299522 2046 NM_001006943,AL035703,CH471134,X59291,AB040892,BC038796,BC072417,CR614037,NM_020526,GM868971 NP_065387,NP_001006944,CAB81612,CAI22039,EAW95013,CAA41980,BAA95983,AAH38796,AAH72417,P29322,Q6IN80,Q8IUX6,AAI41437,CAT16941 Hs.283613 EEK|EK3|HEK3|KIAA1459 EPH- and ELK-related kinase|EPH- and ELK-related tyrosine kinase|EPH-like kinase 3|ephrin type-A receptor 8|hydroxyaryl-protein kinase|protein-tyrosine kinase|tyrosine-protein kinase receptor EEK|tyrosylprotein kinase protein-coding 1353347 EPHB1 EPH receptor B1 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq] 1580863 8798570,8666391,18931529,18649358,18628988,18593464,18424888,18057206,18034775,15951569,15722342,15340161,15107421,14702039,14576067,12925710,12477932,12223469,12118063,12084815,11713248,11256076,11140838,11128993,10730216,10669731,10207129,10066262,9736245,9576626,9530499,9499402,9430661,9267020,9245480,8889548,8755474,8559144,8070404,7973638,7689724,21041834,21085126,16344560,19736353,20379614 2047 NM_004441,AC016931,AC016951,AC063918,AC073244,AC092969,CH471052,AF037333,AK095305,AK291208,AK309741,AW207121,BC111744,BM665724,EU826607,L40636,AF037334,GM868973,DA107464 NP_004432,EAW79127,EAW79128,EAW79129,AAB94627,BAG53024,BAF83897,AAI11745,ACF47643,AAB08520,P54762,AAB94628,CAT16944 Hs.116092 ELK|EPHT2|FLJ37986|Hek6|NET EK6|EPH-like kinase 6|OTTHUMP00000216708|eph tyrosine kinase 2|ephrin type-B receptor 1|soluble EPHB1 variant 1|tyrosine-protein kinase receptor EPH-2 protein-coding 1605126 EPHB2 EPH receptor B2 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq] 19913121,20628086,20634891,8589679,19454503,19366806,18957513,18713744,18695888,18682749,18628988,17655843,17295683,17234965,17192257,16840724,16819508,16740153,16710414,16298995,16272170,16166419,16155194,15973414,15951569,15848800,15821731,15722342,15718372,15300251,15126357,15107857,12972619,12546821,12477932,12389031,12297313,12136247,12063024,12058067,12039842,11956217,11799243,11780069,11754835,11585923,11580899,11494128,11256076,11128993,11042694,10839360,10730216,10648599,10644995,10572014,10570155,10542222,10537323,10523848,10508479,10480933,10330152,10207129,10053012,9933164,9883737,9707552,16582626,9696046,20339854,9576626,9530499,9499402,9267020,9233798,8878483,8798570,8033077,7898931,7816602,7688222,7601466,1648701,9632142,11641781,15225643,8755474,11940661,14968112,17318185,19597185,19661068,19962662,20046096,20233847 2048 NM_004442,NM_017449,NG_011804,AL035704,AL158086,AL512444,AL611946,CH471134,X59292,AB210018,AF025304,AK298898,AK299701,AL530874,BC007903,BC018763,BC041017,BC067861,BQ641281,D14717,D31661,D37827,L36643,L41939,GM868975 NP_004433,NP_059145,CAI22644,CAI22645,CAI22646,CAI22647,CAI22897,CAI22898,CAI22899,CAI16427,CAI16428,CAI16429,CAI16430,EAW95022,EAW95023,EAW95024,EAW95025,EAW95026,CAA41981,BAE06100,AAB94602,BAG61009,BAG61602,AAH67861,BAA03537,BAA06506,BAA07073,AAA74244,AAA99310,P29323,Q4LE53,Q6NVW1,AAI46297,CAT16948 Hs.523329 CAPB|DRT|EK5|EPHT3|ERK|Hek5|MGC87492|PCBC|Tyro5 EPH-like kinase 5|OTTHUMP00000002917|elk-related tyrosine kinase|eph tyrosine kinase 3|ephrin type-B receptor 2|protein-tyrosine kinase HEK5|renal carcinoma antigen NY-REN-47|tyrosine-protein kinase TYRO5|tyrosine-protein kinase receptor EPH-3 2292800 PRSTS10_H protein-coding 1313727 EPHB3 EPH receptor B3 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq] 1580863 20634891,8397371,18978678,15951569,15536074,15489334,21106840,11956217,11256076,11128993,10730216,10207129,9990854,9751130,9707552,9674711,9576626,9530499,9484836,9267020,8798744,12477932,19483190,19607727 2049 NM_004443,AC112643,CH471052,BC052968,CB993133,X75208,GM868977 NP_004434,EAW78236,EAW78237,AAH52968,CAA53021,P54753,CAT16951 Hs.2913 ETK2|HEK2|TYRO6 EK2|EPH-like kinase 2|EPH-like tyrosine kinase-2|ephrin type-B receptor 3|human embryo kinase 2|tyrosine-protein kinase TYRO6 protein-coding 1353692 EPHB4 EPH receptor B4 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq] 1580863 8152808,8831703,16322467,12493773,8188704,19366806,19356789,19035475,18957513,18593464,18340006,18231102,17611172,17510705,17353927,17234965,17196593,16982731,16867992,16840724,16615113,16424904,16343615,16205642,16171530,16107476,15951569,15930280,15722342,15489334,15358160,15193868,15126321,14764452,12734395,12690205,12477932,12235151,12051776,11929761,11920461,11466354,11256076,11239002,11136979,11128993,10730216,10518221,10207129,10037197,9718367,9576626,9530499,9267020,19552627,19597185,19664212,20002159,20031623,20061560,9388509,20133814 2050 EU826610,U07695,AC011895,AF312032,AY056047,CH236956,CH471091,AB209644,AK301224,AY056048,BC004264,BC052804,CB962032,CR602699,CR620724,CR621822,EU826608,EU826609,NM_004444,GM868979 ACF47645,ACF47646,AAA20598,P54760,Q541P7,Q59F17,Q7Z635,Q96L35,NP_004435,AAK21010,AAL14194,EAL23820,EAW76468,EAW76469,EAW76470,BAD92881,BAG62797,AAL14195,AAH04264,AAH52804,ACF47644,CAT16953 Hs.437008 HTK|MYK1|TYRO11 ephrin receptor EphB4|ephrin type-B receptor 4|hepatoma transmembrane kinase|soluble EPHB4 variant 1|soluble EPHB4 variant 2|soluble EPHB4 variant 3|tyrosine-protein kinase TYRO11|tyrosine-protein kinase receptor HTK protein-coding 1314623 EPHB6 EPH receptor B6 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The ephrin receptor encoded by this gene lacks the kinase activity of most receptor tyrosine kinases and binds to ephrin-B ligands. [provided by RefSeq] 1580863 20589678,20371680,10984508,9207182,19234485,18819711,18754880,18632665,16364251,16169070,15955811,15340161,14612926,12853948,12690205,12517763,12477932,12393850,11713248,11466354,11256076,11128993,10831073,10730216,10648835,10207129,9707552,9576626,9530499,9267020,8889548,19513565,20086179,20181626 2051 NM_004445,AC104597,AF107256,AY280502,CH236959,CH471198,AL832533,BC015495,BC047892,BC051028,BC056159,BC110606,BC110607,BM665491,BX414750,D83492,EU054308 NP_004436,AAD03058,AAP20939,EAL23775,EAW51900,EAW51901,EAW51902,EAW51903,AAI10607,AAI10608,BAA21560,ABV55388,O15197 Hs.380089 HEP|MGC129910|MGC129911 OTTHUMP00000208518|ephb6|ephrin type-B receptor 6|tyrosine-protein kinase-defective receptor EPH-6 protein-coding 736560 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene. 1300048,1601064,1601063,1601065,1601066,1580863,4889123,4889120,4889407,4889121,4889122,4889126,4889405,4889406,4140935,4889408,4889124,4889125 19913121,20568895,20602612,20628086,20634891,20637790,20659238,20689807,20716240,20731606,7516776,19527514,19479063,19415745,19343046,19339270,19336370,19330589,19307236,19287329,19181923,19177501,19162321,19131562,19111454,19074885,19064572,19019335,19017876,19012698,18992263,18992148,18990750,18978678,18836923,18818748,18816171,18811882,18784359,18768509,18680736,18676680,18642288,18636124,18632753,18619701,18614560,18571762,18569587,18550614,18513744,15150264,15138035,15061915,15036125,14988221,14984931,14751678,14719475,14681495,14669306,14642084,14634838,12935919,12915882,12878321,12854128,12798882,12760253,12747973,12717779,12670526,12631667,12605384,12579334,12552594,12496064,12491039,12477932,12419832,12397416,12376511,12359356,12234472,12173035,12160895,12141066,12121132,12085365,12029283,11967624,11940289,11859435,11849215,11813302,11809533,11758809,11751440,11692079,11597790,11551408,11535253,11520401,11489754,11480169,11471167,11440964,11406608,11375900,11283205,11255266,11191882,11124296,11058921,10965908,10828267,10066160,9925921,9255563,7920694,7892276,7835893,3502697,2891713,2864485,2758034,18495522,18461673,18423013,18406439,18394656,18383527,18298806,18258609,18200441,18093316,17996038,17908297,17896209,17885617,17767854,17711870,17695473,17690329,17686149,17611777,17608547,17590289,17588204,17564249,17548691,17548684,17532303,17526865,17498780,17449559,17416773,17416769,17412371,17380322,17365145,17363767,17273734,17212663,17203192,17167268,17164366,17159790,17082176,17078101,17048007,17035385,17022435,16985026,16926176,16710414,16697254,16630050,16614120,16614101,16598069,16585076,16538176,16535827,16456143,16369102,16357600,16201204,16147638,16125881,16043197,16039674,16029924,16006997,16005144,15938845,15928955,15924351,15901990,15900282,15894702,15838728,15817713,15774926,15746160,15734960,15719050,15716486,15714076,15702235,15692831,15668489,15654505,15640939,15640066,15618730,15582499,15536330,15535985,15531751,15489334,15488121,15466980,15465926,15355699,15352038,15298956,15280903,15256148,18510611,15199549,19170196,19364907,19528831,19575027,19589345,19593802,19620853,19625176,19657367,19692168,19736056,19751749,19754350,19789190,19794411,19898482,19933216,19952982,19956635,19958090,20091863,20095411,20200332,20233420,20375710,20379614,20403997,20437850,20453000,20461808,20516053,20525719,20886582,20140262,20842355,20847076,20878130,20932192,20935060,20951227,21044285,21057703 1601064,1601063,1601065,1601066,4889123,4889120,4889407,4889121,4889122,4889126,4889405,4889406,4140935,4889408,4889124,4889125 2052 NM_000120,NG_009776,AC099066,AF253417,AF276626,AF276627,AF276628,AF276629,AF276630,AF276631,AF276632,AF276633,AF276634,AF276635,AF276636,AF276637,AF276638,AL591895,AY948961,CH471098,U06661,X15459,AK313436,BC003567,BC008291,BC095430,BJ994650,CR541963,CR593306,CR597496,CR602725,CR612771,CR612904,CR625608,J03518,L25878,L25879,M36374,X07936,Y00424,NM_001136018 NP_001129490,NP_000111,AAC41694,AAF87726,AAF87727,AAF87728,AAF87729,AAF87730,AAF87731,AAF87732,AAF87733,AAF87734,AAF87735,AAF87736,AAF87737,AAF87738,CAH71992,CAH71993,CAH71994,AAX81410,EAW69754,EAW69755,EAW69756,EAW69757,AAB60649,BAG36227,AAH03567,AAH08291,AAH95430,CAG46761,AAA61305,AAA52389,AAA52390,AAA59580,CAA30759,CAA68486,P07099,Q6FGZ3,ABM83432,ABM86646 Hs.89649 EPHX|EPOX|MEH epoxide hydratase|epoxide hydrolase 1 protein-coding 731054 EPHX2 epoxide hydrolase 2, cytoplasmic This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580978,1580979,1580981,1580982,1580985,1580986,1300048,1580863 19913121,20485444,20628086,18029348,20140262,20819778,10862610,19527514,19420105,19343046,19074885,19019335,18818748,18784359,18775727,18676680,18636124,18632753,18589104,18537101,18510611,18323494,18319271,18216721,18078836,17919073,17498780,17495027,17460077,16957870,16595607,16545818,16414022,16202848,16115816,15845398,15489334,15096040,14732757,14702039,14673705,14634838,12574508,20888937,12107410,11692079,8619856,8342951,8224376,7868134,7840649,6667124,6185139,3222228,2995393,2329521,1809223,1423213,1349227,12477932,21098312,16169070,19170196,19575027,19578796,19625176,19692168,19704161,19814804,19940276,20065888,20237496,20379614 1580978,1580979,1580981,1580982,1580985,1580986 2053 NM_001979,NG_012064,AF311103,CH471080,X97024,AF233334,AF233335,AF233336,AK094393,AK096089,AK096770,AK294065,AK303904,AK308041,AK310507,BC007708,BC011628,BC013874,BT006885,BX103698,CA397329,CR590101,CR590835,L05779,EU584434 NP_001970,EAW63547,EAW63548,EAW63549,EAW63550,EAW63551,CAA65751,AAG14966,AAG14967,AAG14968,BAG53210,BAG53362,BAG57410,BAG64834,AAH07708,AAH11628,AAH13874,AAP35531,AAA02756,P34913,ABM83675,ABM86963,ACD11487 Hs.212088 CEH|SEH cytosolic epoxide hydrolase|epoxide hydratase|epoxide hydrolase 2|epoxide hydrolase 2, cytosolic|epoxide hydrolase, soluble|soluble epoxide hydrolase protein-coding 1316262 EPHX3 epoxide hydrolase 3 1580863 17437806,16344560,15489334,15203218,14702039,12477932,20723587 79852 NM_024794,NM_001142886,AC004257,CH471106,AK026061,BC115002,BC132958,BC132960,CD632298,CR619338,DA378406 NP_079070,NP_001136358,EAW84467,EAW84468,BAB15342,AAI15003,AAI32959,AAI32961,Q9H6B9 Hs.156457 ABHD9|FLJ22408|MGC131519 abhydrolase domain containing 9|abhydrolase domain-containing protein 9|epoxide hydrolase 3 protein-coding 1318921 EPHX4 epoxide hydrolase 4 737633,1580863 15489334,14702039,12477932,20237496,17207965,20723587 737633 253152 NM_173567,AC104836,AC114486,CH471097,AK074822,BC041475,DB475492 NP_775838,EAW73105,BAC11230,AAH41475,Q8IUS5,ADQ33117 Hs.201555 ABHD7|EPHXRP|FLJ90341 abhydrolase domain containing 7|abhydrolase domain-containing protein 7|epoxide hydrolase 4|epoxide hydrolase-related protein protein-coding 736258 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1299634,1580863 12915448,11001928,9931343,19267391,19171932,19036738,18617530,18311786,18070875,18029386,17646401,17509003,17337485,16971387,16959610,16901901,16115820,15489334,15009235,14722920,14706656,14702039,14643920,14532330,12782127,12560877,12477932,12019207,11883934,11739371,11735300,11220751,9345091,11175283,9771710,9222970,7485240,15930137,20738377,17908927,19403557,19529779,20534808,20453062 1299634 7957 AF454492,AF454493,AF454494,AJ130763,AJ130764,AK022721,AK299497,AW291546,BC005286,BC070047,BI463677,CR616412,NM_005670,NM_001018041,AL023806,AL031119,AL365193,CH471051,AF084535,AF284580,AF454491,NG_012832 AAO15524,AAO15525,AAO15526,CAA10199,CAA10200,BAG51107,BAG61454,AAH05286,AAH70047,O95278,Q6IS15,NP_005661,NP_001018051,CAI21419,CAI21420,CAI21421,CAI20057,CAI21675,CAI21676,CAI21677,EAW47842,EAW47843,EAW47844,AAC83347,AAG18377,AAO15523 Hs.486696 EPM2|MELF LAFPTPase|OTTHUMP00000017361|epilepsy, progressive myoclonic epilepsy, type 2 gene alpha|epilepsy, progressive myoclonus type 2, Lafora disease (laforin)|lafora PTPase|laforin protein-coding 1322182 EPM2AIP1 EPM2A (laforin) interacting protein 1 The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq] 1580863 18095154,15489334,14702039,12958597,12782127,12692553,12477932,9872452 9852 NM_014805,NG_008418,AC011816,CH471055,AB018309,AF059751,AF086312,AK002069,AY178832,BC012624,BC041957,BC064696,CR593956,CR603293 NP_055620,EAW64482,BAA34486,AAG43120,AAO21376,AAH64696,Q7L775 Hs.28020 FLJ11207|KIAA0766 EPM2A interacting protein 1|EPM2A-interacting protein 1|laforin-interacting protein protein-coding 1342807 EPN1 epsin 1 EPN1 is an endocytic accessory protein that interacts with EPS15 (MIM 600051), the alpha subunit of the clathrin adaptor AP2 (AP2A1; MIM 601026), and clathrin (see MIM 118960), as well as with other accessory proteins for the endocytosis of clathrin-coated vesicles.[supplied by OMIM] 632727 9723620,10567358,12218189,15962011,19054389,17081983,16903783,16344560,12353027,11382783,10791968,10764745,10692452,10557078,16169070,12775724,16497223,15701692,15694383,15489334,14702039,12836669,12477932,12057195,15231748,16885233,19704019,9422736 632727 29924 NM_013333,NM_001130071,NM_001130072,AC008735,AC010525,CH471135,AF073727,AK022454,AK300545,AK314690,BC044651,BU634413,CR605988,DA657018 NP_037465,NP_001123543,NP_001123544,EAW72405,EAW72406,EAW72407,EAW72408,AAD38326,BAB14041,BAG62253,AAH44651,Q9Y6I3,ADR82675 Hs.279953 EH domain-binding mitotic phosphoprotein|EPS-15-interacting protein 1|epsin-1 protein-coding 1351510 EPN2 epsin 2 This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 708327,1580863 17081983,16344560,15345747,15324660,15231748,14702039,12750376,12477932,12353027,10567358,10470851,9813051,9303539,20379614 708327 22905 NM_014964,NM_148921,NM_001102664,AC106017,AC124066,CH471212,AB028988,AF062084,AF062085,AK001491,AK001996,AK024115,AK092366,AK307455,BC015488,BC051793,BC070036,BC093972,BC093974,CR592872,CR621978,DA220261,DC316524,AK295652,AK298006,BC143264,BC143263 NP_055779,NP_683723,NP_001096134,EAW50875,EAW50876,EAW50877,BAA83017,AAC78608,AAC78609,BAG50925,BAG51000,BAB14831,BAG52540,AAH70036,AAH93972,AAH93974,O95208,Q52LD0,Q6NSL9,AAI43265,BAH12141,BAH12703 Hs.725137 EHB21|KIAA1065 EPS-15-interacting protein 2|Eps15 binding protein|OTTHUMP00000065809|OTTHUMP00000065811|OTTHUMP00000065889|epsin-2 protein-coding 1315016 EPN3 epsin 3 1580863 16344560,15489334,15231748,14702039,12477932,11359770,10951261,8889548 55040 NM_017957,AC021491,CH471109,AF324241,AK000785,AK291658,AK292977,AK295730,AK296346,AK300642,BC001038,BC051365,BC077722,BC110602,BC110605,BM981734,BU539570,CA944655,DA392550,DC388544 AAI10606,NP_060427,EAW94606,EAW94607,AAG45223,BAA91378,BAF84347,BAF85666,BAG58571,BAG59030,BAG62331,AAI10603,Q9H201 Hs.670090 FLJ20778|MGC129899 EPS-15-interacting protein 3|OTTHUMP00000221409|OTTHUMP00000221412|epsin-3 protein-coding 735849 EPO erythropoietin This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a variety of potential brain injuries and antiapoptotic functions in several tissue types. [provided by RefSeq] 2313831,2313832,2313833,2313837,2313839,2313840,2313841,2313843,2313896,2313897,2313842,2313890,2313834,2313835,2313838,1580863 19913121,20566589,20628086,19070519,17442163,20873225,17353931,3838366,9722506,19463769,19375648,19375647,19339771,19321698,19165176,19074769,19042077,19027957,19014520,18922618,18787502,18722069,18586515,18544472,18479804,18458324,18414140,18356745,18332162,18278456,18276585,18259195,18219110,18201556,18189270,18160550,18093155,18091448,18086112,18074690,17984928,17952604,17893875,17893874,17888545,17873970,17713555,17652365,17647284,17645631,17636183,17615151,17597020,17577097,17540710,17481772,17467346,17395782,17389738,17372034,17360900,17145806,17081058,17045782,16936148,16909043,16883594,16838166,16699298,16684536,16645141,16627979,16475009,16467207,16332412,16286456,16278379,16229477,16123502,15993382,15988318,15967106,15856028,15795697,15777837,15769989,15743794,15728783,15718359,15709172,15709164,15705187,15671524,15627795,15590452,15502930,15489334,15467711,15389732,15363820,15347669,15339684,15257091,15240563,15210945,15205261,15183662,15160341,15142852,15112358,15053948,15019812,14990112,14755373,14747752,14724429,14718663,14704034,14671634,14584755,14583613,12975460,12960323,12937140,12853948,12829027,12801298,12759237,12734640,12525458,12482504,12477950,12477932,12476588,12463751,12419827,12381912,12362243,12239177,12212844,12207089,12192960,12187026,12171772,12130665,12091337,12082184,12068288,11994541,11920206,11919332,11906322,11906321,11869305,11865075,11861258,11854521,11493922,11305874,11259643,11239002,10984541,10318834,9847074,9808045,9799793,9774108,9539790,8396923,6698989,3949763,3865178,3462737,3462706,3346214,3219367,2875851,2849206,20353997,20804540,21033220,1820196,20179983,20395592,15073510,11782478,9113979,15674338,19890342,20228410,19269703,19955699,21067572,21078205,17327410,18399174,19136057,19211168,19515792,19602911,19619913,19690392,19766721,19804771,19862010,19901910,19930602,19932158,20012656,20065225,20091055,20104680,20164027,20237496,20979939 2313831,2313832,2313833,2313837,2313839,2313840,2313841,2313843,2313896,2313897,2313842,2313890,2313834,2313835,2313838 2056 NM_000799,AC009488,AF053356,AF202308,AF202310,AF202311,AF202314,CH471091,M11319,X02158,BC093628,BC111937,BC143225,S65458,X02157,NG_021471 NP_000790,AAP22357,AAC78791,AAF23132,AAF23133,AAF17572,AAF23134,EAW76493,EAW76494,AAA52400,CAA26095,AAH93628,AAI11938,AAI43226,AAD13964,CAA26094,P01588 Hs.2303 EP|MGC138142|MVCD2 epoetin|erythropoietin protein-coding 736105 EPOR erythropoietin receptor The erythropoietin receptor is a member of the cytokine receptor family. Upon erythropoietin binding, the erythropoietin receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. [provided by RefSeq] 1580863 19070519,10984541,10882725,10660611,10455108,10388848,10374881,10318834,10084959,9974392,9852052,9808074,9808045,9793257,9774439,9774108,9649565,9573010,9488636,9371269,9334184,9292543,9192789,9162069,8977232,8861946,8662939,11124255,11000476,8662530,8647802,8639815,8608241,8506290,8400282,8343951,8174675,7889566,7796808,7795221,7651724,7559499,7534299,17363704,17293480,17145806,17110616,17038666,16982687,16699298,16627979,16608505,16278379,16161153,16084495,15953601,15878737,15777837,15769989,15709172,15709164,15671524,15657048,15572213,15489334,15480420,15467711,15358619,15329338,15249201,15205261,15160341,14982882,14584755,12960323,12878211,12746455,12538595,12525458,12488507,12477932,12441334,12118093,12113907,12027890,12021194,11999556,11994541,11884148,11784712,11782306,11779507,11756159,11722595,11443118,11305874,2163695,1668607,1664413,1657727,1654273,1324524,1310150,9344843,20700488,2163696,11781573,15644415,19167335,1668606,1848667,19464057,19375647,19336760,19264915,19218878,19133231,19010836,18818706,18492694,18479804,18424770,18349818,18332162,18278456,18250608,18158285,18059484,18006699,17995455,17922127,17912463,17893874,17647284,17637760,17597020,17524492,17488692,17483696,20169072,17327410,18184464,19298633,19515792,19536148,19544471,19655412,19779103,19836979,19930602,19965681,20124513,20124514,20164027,20337434,7528577,20861249 2057 NM_000121,AC024575,CH471106,M76595,M77244,S45332,AK315097,BC019092,BC112153,BC143697,BC143698,BC143700,CR592320,CR592865,CR597800,CR610088,CR613702,CR618473,CR620075,M34986,M60459,X57282,X97671,BU619338,NG_021395,NR_033663 NP_000112,EAW84205,EAW84206,EAW84207,EAW84208,AAA52393,AAA52392,AAB23271,BAG37561,AAI12154,AAA52401,AAA52403,CAA40550,CAA66260,P19235,Q8TEP0 Hs.631624 EPO-R|MGC138358 erythropoietin receptor protein-coding 1343625 EPPK1 epiplakin 1 1580863 17353931,17081983,16565220,16083285,15671067,14708632,12791695,12665801,12577067,11278896,8618051 83481 NM_031308,AB107036,AC105049,AC109322,CH471162,AB051895,AL137725,CS673558,CS690941,FB665694,GM706906,AC234917 NP_112598,BAC92750,EAW82176,BAB40803,CAB70895,P58107,Q9NSU9,CAP07546,CAP11514,CAR97129,CAT82413 Hs.200412 EPIPL|EPIPL1 450 kDa epidermal antigen|epidermal autoantigen 450K|epiplakin protein-coding 1347671 EPR1 effector cell peptidase receptor 1 (non-protein coding) This locus represents an antisense transcript of the survivin locus. [provided by RefSeq] 1580863 16341674,15112339,12477932,12441269,11686347,10891443,9556606,8106347,7947793,7615156,9079657 8475 NR_002219,AC087645,AF086186,BC001735,BM839824,L26245 Hs.727569,Hs.514527 BIRC5AS|BIRC5OS|EPR-1|NCRNA00007 miscrna 1322145 EPRS glutamyl-prolyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq] 1580863 17353931,8188258,19647514,18374644,16964243,15994936,15479637,15302935,12477932,11123902,10913161,9878398,9556618,8889549,3290852,2227938,1988429,1756734,1651330,1556743,9537509,16169070,11829477,11714285,16055448,20379614,8052601,8078941,8449960,9278442 2058 BC126275,BC136465,CR591253,CR609722,CR622328,CR933648,N85252,X07466,X54326,NM_004446,AC103590,CH471100,X72396,X72397,X72398,X72399,X72400,X72401,X72402,X72403,X72404,X72405,X72406,X72408,X72407,X72409,X72410,X72411,X72412,X72413,X72414,X72415,X72416,X72417,X72418,X72419,X72420,X72421,AA196283,AK296755,AK298192,AK307534,AY493416,BC015494,BC034797,BC046156,BC058921,BC067841,BC105983 AAI26276,AAI36466,CAI45949,CAA30354,CAA38224,P07814,Q3KQZ8,NP_004437,EAW93309,EAW93310,BAG59337,BAG60462,AAS72877,AAH15494,AAH34797,AAH46156,AAH58921,AAI05984 Hs.497788 DKFZp313B047|EARS|GLUPRORS|PARS|PIG32|QARS|QPRS bifunctional aminoacyl-tRNA synthetase|cell proliferation-inducing gene 32 protein|glutamate tRNA ligase|glutaminyl-tRNA synthetase|proliferation-inducing gene 32 protein|proliferation-inducing protein 32|proline tRNA ligase|proline-tRNA ligase|prolyl-tRNA synthetase protein-coding 1313642 EPS15 epidermal growth factor receptor pathway substrate 15 This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 20634891,10613896,17474147,8183552,9762922,10567358,12218189,15962011,15465819,19109251,18395097,18362181,17626015,17081983,16964243,16710414,16429130,16344560,16325581,16159959,16036216,15951569,15767409,15231748,14755250,14702039,14671106,12807910,12551915,12477932,12072436,11919637,11872741,11723124,11483962,11381094,11062555,10953014,10922467,10809762,10791968,10757979,10514494,10393179,10383425,10064583,9723620,9721102,9490719,9428629,9407139,9303539,9182572,9110174,9049247,8889548,8662907,8662627,8619474,8134107,7797522,12364336,12429846,10777571,16497223,16735510,16771824,16862145,16885233,17082820,17588522,18029348,19875440,20106972,15701692 2060 NM_001981,NM_001159969,AC104170,AL110230,AL671986,CH471059,AA789139,AF052132,AK090936,AK129853,AK294297,AK308128,AK313396,AW949896,BC054006,BM681433,BX647676,CD657119,DA801048,DQ367924,U07707,Z29064,FB342945,FB711068 NP_001972,NP_001153441,CAI13030,CAI13031,EAX06822,EAX06823,EAX06824,BAG52249,BAH11726,BAG36194,AAH54006,ABD34786,AAA52101,CAA82305,P42566,Q7Z5V0,CAR81473,CAS91489 Hs.83722 AF-1P|AF1P|MLLT5 ALL1 fused gene from chromosome 1|OTTHUMP00000009897|epidermal growth factor receptor substrate 15|protein AF-1p protein-coding 1345399 EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 1580863 10567358,12218189,15962011,17081983,16964243,16903783,15302935,15144186,14702039,12477932,11777906,11381094,10906484,10613896,9853615,9723620,9446614,9407958,9303539,16497223 58513 AK296473,AK297428,AK299001,AC008764,AC020917,CH471106,AB015346,AF110265,AK023744,AK024166,AK025770,AK291359,AL110270,BC037558,BC051873,BC067114,BC131590,BC142662,NM_021235,BC142716 BAG59115,BAG59856,BAG61087,NP_067058,EAW84542,EAW84543,EAW84544,EAW84545,BAA88118,AAF21930,BAG51266,BAF84048,CAH10724,AAI31591,AAI42663,AAI42717,Q69YZ4,Q9UBC2 Hs.654639 EPS15R epidermal growth factor receptor substrate 15-like 1|epidermal growth factor receptor substrate EPS15R|eps15-related protein protein-coding 1348027 EPS15L2 epidermal growth factor receptor pathway substrate 15-like 2 55380 NG_008280,AC073275,CH236958,CH471128 AAQ93366,EAW61021,Q9P188 EPS15L2|PRO1866 pseudo 1321587 EPS8 epidermal growth factor receptor pathway substrate 8 This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 20677014,20418908,8084614,9010225,15289329,18029348,19528316,19116338,18464913,17537571,17115031,17081983,16618726,15489334,15273867,12477932,12127568,11524436,11185075,11099046,10581192,10499589,10395945,8700527,8404850,7791787,7566980,7537362,7532293,1049958,14565974,16189514,18566210,16169070,8700515,19008210,9303002,12606711,16688213,19448673,20184880,20351091 2059 NM_004447,AC073651,AC092753,CH471094,AI219284,AI377466,AK291777,AK292931,AK301834,AK304860,AK316134,AK316239,BC005836,BC030010,BI667617,U12535 NP_004438,EAW96354,EAW96355,BAF84466,BAF85620,BAG63278,BAG65598,BAH14505,BAH14610,AAH30010,AAA62280,Q12929 Hs.591160 epidermal growth factor receptor kinase substrate 8 protein-coding 1322450 EPS8L1 EPS8-like 1 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16344560,15498874,15489334,14702039,14565974,12620401,12477932,10514543 54869 NM_017729,AC005782,AC011476,AF282168,CH471135,AF282167,AF370395,AK000265,AK057052,AK075098,AK296732,AK301615,AK309305,AK309908,AY074928,BC004907,BC015763,DA452167,DB018703,NM_133180 NP_573441,NP_060199,AAG03039,EAW72328,EAW72329,EAW72330,EAW72331,AAG03038,AAQ15231,BAA91041,BAG51855,BAC11399,BAG59319,BAG63100,AAL76117,AAH04907,AAH15763,Q8TE68 Hs.438862 DRC3|EPS8R1|FLJ20258|MGC23164|MGC4642|PP10566 EPS8-like protein 1|EPS8-related protein 1|epidermal growth factor receptor kinase substrate 8-like protein 1|epidermal growth factor receptor pathway substrate 8-related protein 1 protein-coding 1322090 EPS8L2 EPS8-like 2 This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq] 16083285,15498874,15489334,14702039,14565974,12620401,12477932,9373149,8125298 64787 NM_022772,AP006621,CH471158,AF318331,AK025588,AK025824,AK027765,AK094539,AK122903,AK122984,AK222903,AK225311,AK294041,AY074929,BC002474,BC080636,BC093878,BC101481,BC143242 NP_073609,EAX02375,EAX02376,AAL55838,BAB15180,BAB15248,BAB55354,BAG52883,BAD96623,BAG57393,AAL76118,AAH80636,AAH93878,AAI01482,AAI43243,Q9H6S3 Hs.55016 EPS8R2|FLJ16738|FLJ21935|FLJ22171|MGC126530|MGC3088 EPS8-like protein 2|EPS8-related protein 2|epidermal growth factor receptor kinase substrate 8-like protein 2|epidermal growth factor receptor pathway substrate 8-related protein 2 protein-coding 1318007 EPS8L3 EPS8-like 3 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq] 19807924,16710414,15489334,14702039,14565974,12620401,12477932,9373149,8125298,10737800,16341674,16344560,16712791 79574 NM_133181,NM_024526,AL158847,CH471122,AK025175,AK225235,AK290261,AK292198,AK307932,AK308196,AK310979,AY074930,NM_139053,BC012926,AW937714,BM737806,BM797626,BM824107,BP419077,CB159338,DA927692 NP_620641,NP_573444,NP_078802,CAI22582,CAI22583,CAI22584,EAW56410,EAW56411,EAW56412,EAW56413,EAW56414,EAW56415,BAB15081,BAF82950,BAF84887,AAL76119,AAH12926,Q8TE67 Hs.485352 EPS8R3|FLJ21522|MGC16817 EPS8-like protein 3|EPS8-related protein 3|epidermal growth factor receptor kinase substrate 8-like protein 3|epidermal growth factor receptor pathway substrate 8-related protein 3 protein-coding 1353297 EPSTI1 epithelial stromal interaction 1 (breast) 12477932,11991720,7566098,20133812 94240 NM_033255,NM_001002264,AL137878,AL445217,CH471075,CQ834892,AA372477,AF396928,AK292461,AK313877,AL831953,BC023660,BU603558,CR598260 NP_150280,NP_001002264,CAH70578,CAI13478,EAX08684,EAX08685,EAX08686,CAH05661,AAK73753,BAF85150,CAD38599,AAH23660,Q96J88,ABM83194,ABM86395,CAM13100 Hs.546467 BRESI1|MGC29634 epithelial-stromal interaction protein 1 protein-coding 1323569 EPX eosinophil peroxidase 1580863 19439985,20237496,20453000,17474147,19014520,18694936,16336215,15894800,15316147,14657871,12540536,12477932,11076863,10971470,10828600,10358043,7809065,2550461,2541222,10386597,20501663 8288 NG_013020,NM_000502,AC005962,CH471109,DQ054598,M29904,M29913,AJ705406,AL597635,BM147889,X14346 NP_000493,EAW94479,EAW94480,AAY43126,AAA58458,CAA32530,P11678,AAI11603 Hs.279259 EPO|EPP|EPX-PEN eosinophil peroxidase protein-coding 1314212 EPYC epiphycan Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq] 1580863 20357198,8975717,17558846,16902402,15489334,12477932,10330124,19616852,19844586 1833 NM_004950,AC078873,AF031658,CH471054,AK290642,BC030958,BQ007792,CR598976,CR612682,U59111 NP_004941,EAW97444,EAW97445,EAW97446,EAW97447,BAF83331,AAH30958,AAC50945,Q99645,ADR82703 Hs.435680 DSPG3|PGLB|Pg-Lb|SLRR3B dermatan sulfate proteoglycan 3|epiphycan|epiphycan proteoglycan|proteoglycan-lb|small chondroitin/dermatan sulfate proteoglycan protein-coding 1315507 ERAF erythroid associated factor 1580863 12066189,18704762,18676996,18179859,18166800,17874450,17194704,16339656,16189514,16186125,15489334,15220346,14715623,14667971,12477932,12192002,11231637,11042152,16169070,20815047,20627634,15550245,18347943,19349619,19482015,19706593,20036801,20371604 51327 NM_016633,AC106730,AF485325,AY072612,CH471192,AF112995,AF147435,AF208865,AF364517,BC035842,CR599801,H94920 NP_057717,AAO49381,AAL82894,EAW52118,AAP97228,AAF64279,AAK50856,AAH35842,Q549J4,Q9NZD4,ABM81851,ABM85002 Hs.274309 AHSP|EDRF|ERAF alpha hemoglobin stabilising protein|alpha-hemoglobin-stabilizing protein|erythroid associated factor|erythroid differentiation associated factor|erythroid differentiation-related factor|erythroid-associated factor protein-coding 1312320 ERAL1 Era G-protein-like 1 (E. coli) 1580863 12477932,11733036,10945472,15489334,14759258,14702039,20604745 26284 NM_005702,AC024267,CH471159,AB049388,AF082657,AF082658,AK023342,AY007435,BC019094,BX537542,CR592491,CR592743,CR600900,CR601873,CR605279,CR609444,CR609631,CR611953,CR614207,CR626187 NP_005693,EAW51146,EAW51147,EAW51148,EAW51149,BAB56112,AAC31603,AAC31604,BAG51183,AAG12978,AAH19094,O75616,ABM83552,ABM86792 Hs.3426 ERA|ERAL1A|HERA-A|HERA-B CEGA|ERA-W|GTP-binding protein era homolog|GTPase, human homolog of E. coli essential cell cycle protein Era|conserved ERA-like GTPase|era (E. coli G-protein homolog)-like 1|hERA protein-coding 732566 ERAP1 endoplasmic reticulum aminopeptidase 1 Aminopeptidases play a role in the metabolism of several peptides that may be involved in blood pressure and the pathogenesis of essential hypertension (MIM 145500). Adipocyte-derived leucine aminopeptidase (ALAP) is a member of the M1 family of zinc metallopeptidases.[supplied by OMIM] 2315691,2315693,1578804 19913121,20592285,20595269,20628086,10220586,12748171,15691326,11056387,16034137,19433412,19414429,19404951,19202550,19110536,18987748,18593381,18445477,18393273,17999179,17952073,17390085,17015730,16585582,16407280,16344560,16286653,16054015,15908954,15489334,15314084,14662887,12975309,12477932,12436110,12436109,12368856,12189246,12168954,11857741,11481040,9628581,9373149,8125298,20843824,20953187,20953190,20347630,21068102,21078719,19578876,19581569,19692350,19828632,19877036,19917163,20032103,20062062,20103633,20379614,20419298 2315691,2315693,1578804 51752 NM_016442,NM_001040458,AC008906,CH471084,AB011097,AF106037,AF183569,AF222340,AK222873,AK291636,AK310535,AL110186,AY028806,AY028807,AY358590,BC030775,DA327238,DA704693,DC398730,NM_001198541,NG_027839 NP_057526,NP_001035548,EAW96077,EAW96078,EAW96079,BAA25451,AAF07395,AAF20384,AAF34664,BAD96593,BAF84325,AAK37777,AAK37778,AAQ88953,AAH30775,Q53GQ8,Q9NZ08,NP_001185470 Hs.716426 A-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|KIAA0525|PILS-AP|PILSAP adipocyte-derived leucine aminopeptidase|aminopeptidase PILS|aminopeptidase regulator of TNFR1 shedding|endoplasmic reticulum aminopeptidase 1|endoplasmic reticulum aminopeptidase associated with antigen processing|leucyl-specific aminopeptidase pils|puromycin-insensitive leucyl-specific aminopeptidase|type 1 tumor necrosis factor receptor shedding aminopeptidase regulator protein-coding 1605959 ERAP2 endoplasmic reticulum aminopeptidase 2 Aminopeptidases hydrolyze N-terminal amino acids of proteins or peptide substrates. Major histocompatibility complex (MHC) class I molecules rely on aminopeptidases such as ERAP1 (MIM 606832) and LRAP to trim precursors to antigenic peptides in the endoplasmic reticulum (ER) following cleavage in the cytoplasm by tripeptidyl peptidase II (TPP2; MIM 190470) (Tanioka et al., 2003 [PubMed 12799365]).[supplied by OMIM] 20595269,12477932,12799365,15691326,19433412,18393273,18369178,17129607,16585582,16344560,16054015,15908954,20843824,21102463,11752456,11481040,19578876,20103633,20419298 64167 NM_022350,NM_001130140,AC008850,AC009126,CH471084,AB109031,AB163917,AF191545,AK074213,AK074281,AK074387,AK312864,AV688559,AY028805,BC017927,BC065240,BU430967,CR610687,DA990479,DB159802 NP_071745,NP_001123612,EAW96080,EAW96081,EAW96082,BAC78818,BAD90015,AAG28383,BAG35716,AAK37776,AAH17927,AAH65240,Q6P179 Hs.482910 FLJ23633|FLJ23701|FLJ23807|L-RAP|LRAP OTTHUMP00000222873|endoplasmic reticulum aminopeptidase 2|leukocyte-derived arginine aminopeptidase protein-coding 1345319 ERAS ES cell expressed Ras 1580863 18174262,16081664,15489334,12774123,12477932,6322122,9344703,9269777,16436505,19528480,19787253,20811723,20566745 3266 NM_181532,AF196971,CH471224,X00419,AB093575,BC101642,BC101644 NP_853510,EAW50743,BAC76997,AAI01643,AAI01645,Q7Z444 Hs.447330 HRAS2|HRASP|MGC126691|MGC126693 E-Ras|GTPase ERas|embryonic stem cell-expressed Ras|small GTPase protein E-Ras|v-Ha-ras Harvey rat sarcoma viral oncogene homolog 2|v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene protein-coding 619563 ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq] 1580988,1580989,1580990,2289947,2289920,2289921,2289922,2289923,2289924,2289925,2289926,2289927,2289928,2289930,2289931,2289932,2289933,2289941,2289981,2289987,2289979,2289955,2289934,2289935,68774,2289950,2298491,2298502,2298490,2298506,2298504,2298499,2298503,2292909,734938,734939,734940,1580863,2317963,4143515 20063318,20135347,20473902,20498373,20506359,20563851,20644561,20662834,20663525,17845756,20443831,20453888,20480225,20581867,20838624,20495743,20881644,20882402,20922573,16685446,16685382,16685269,16685109,16682622,16682283,16681853,16681686,16627989,16627988,16624867,16622439,16609045,16596190,16595141,16551854,16538540,16490596,16489645,16489114,16457687,16457151,16445653,16434967,16405663,16401639,16397024,16395492,16377629,16372244,16357062,16314522,16307437,16286993,16286979,16273189,16199884,16195766,16184431,16169726,16168116,16168106,16168103,16158422,16153159,16112085,16108032,16690615,16686942,16075281,16048908,16045813,16003726,16000588,16000574,15987431,15970791,15948146,15917726,17549338,17545611,17541441,17536308,17511881,17487844,17487843,17487277,17478762,17473658,17470737,17468948,17466328,17453369,17452776,17451461,17449250,17440164,17431415,17393979,17388661,17374991,17361205,17351254,17322545,17321325,17319852,17301075,17292332,17262082,17243161,17221157,17214955,17211534,17203384,17203234,17200337,17187484,17177598,17164260,17150109,17132159,17117180,17102066,17092940,17081983,17081046,17079488,17056098,17030621,17018616,17016520,17006756,16984552,16963452,16963450,16959370,16947041,16912207,16905272,16901007,16879393,16868827,16864174,16857791,16847810,16799708,16797938,16794579,16786139,16782798,16781665,16761619,16752078,16733844,16729043,16718853,18202752,18199554,18193353,18193218,18189290,18187820,18184439,18182111,18178548,18177484,18174256,18172732,18172343,18159252,18159174,18097576,18091319,18090908,18089823,18087195,18079969,18078328,18067636,18062925,18056992,18055238,18045647,18039657,18038879,18035692,18025271,18025083,18008005,18006808,17992604,17987577,17982484,17975153,17973263,17964790,17940352,17938328,17927588,17922046,17918664,17916906,17914096,17906451,17899385,17883115,17879632,17855075,17852076,17851678,17848143,17847085,17761519,17719580,17717428,17706017,17704139,17693647,17690040,17687649,17687647,17671674,17661082,17652160,17644807,17636399,17636396,17633393,17631500,17627014,17626639,17626164,17622245,17613170,17612563,17611666,17611648,17593080,17575133,17571214,17563746,17561991,17558895,17555797,17549665,17549377,17549356,18339869,18337455,18337451,18332872,18327638,18324648,18319334,18316619,18316615,18316611,18316586,18310300,18296077,18289668,18286776,18276068,18258606,18255265,18254960,18251938,18248553,18248390,18237248,18237245,18236071,18231572,18218085,18214297,18211286,18208799,18204294,12820337,12807903,12798775,12775708,12768307,12759537,12754302,12748185,12738987,12712452,12698199,12686539,12683217,12659685,12620236,12610629,12607595,12603863,12586780,12579211,12576424,12574167,12569382,12560434,12553037,12544770,12532415,12529347,12527905,12517790,12517789,12517775,12483526,12477932,12474525,12462379,12461170,12451999,12444095,12439914,12438265,12434309,12432555,12419588,12418962,12380307,12379776,12374672,12368191,12362975,12354693,12242338,12239347,12237894,12209684,12203362,12202942,12198768,12181354,12867284,12860948,12853564,12846420,12839972,12825853,12820343,12820339,12174951,12174949,12174885,12174876,12168050,12166652,12143054,12135609,12127695,12122014,12118253,12115729,12115372,12097278,12093292,12088102,12065844,12060497,12049736,12032832,11986780,11984589,11972392,11960991,11953857,11950845,11940572,11920494,11914075,11910656,11901151,11895493,11891317,11857355,11850542,11850540,11850076,11850071,11841227,11839684,11839675,11839672,11839648,11836576,11821958,11807823,11786427,11759828,11751413,11731415,11700053,11687512,11606575,11598901,11578807,11500850,11500516,11375975,11278868,11278603,11173924,11106692,11071886,11067847,11003669,10918572,10878805,10839362,10829039,10805725,10799311,10713673,10593938,10485918,10372802,10329415,9774445,9710588,9705354,9685399,9662041,9154120,9079677,8889548,8632892,8617772,8104414,8095488,7907235,7702605,7542762,7538656,3945311,3039351,3003577,2999974,2995967,2992089,2470152,1706616,1683701,1681519,1676673,1351056,1334406,12379659,12939402,10085134,11245482,12093135,7592681,15788656,15652750,15643424,15888451,15870067,15867269,15862947,15860504,15856473,15856022,15837541,15809766,15809708,15784621,15757908,15756435,15754131,15743888,15743501,15743039,15735564,15731393,15722788,15721309,15693849,15688416,15688030,15685397,15674342,15650840,15650272,15646832,15638369,15632176,15625017,15592685,15585632,15583858,15579904,15572377,15569994,15561777,15557433,15550452,15542430,15461591,15457249,15447984,15389808,15380516,15374636,15335267,15330164,15254682,15247985,15235125,15233293,15217943,15211117,15210733,15201979,15201972,15194824,15190415,15179190,15173090,15173068,15167216,15156151,15146197,15143334,15140287,15137060,15135067,15126109,15120910,15083213,15077922,15044465,15026342,15014023,15014012,15004021,14991576,14983012,14966375,14761474,14747462,14744769,14743203,14742716,14737100,14734462,14724581,14724563,14719098,14711810,14697248,14696118,14689059,14682475,14680497,14666627,14664140,14660651,14647146,14634801,14631375,14628084,14614702,14614020,14613025,14612949,14607699,14601058,14580260,14578197,14578152,14576349,14569185,14566828,14566826,14563447,14555987,14555515,14520697,14520464,12970748,12942124,12917345,12910292,12897328,12888923,12883692,12874758,20213094,20679487,20731018,20736364,20937854,20973802,19548127,19657752,20150438,20178580,21061787,21088150,19825881,19882362,19940005,20211985,20406831,20424000,20432461,20459769,20492696,18303620,20473728,20628381,20961995,21044318,21173138,18787406,18787418,19513620,20041268,20429940,20565727,20596843,20713855,18348656,15899781,18600430,18593940,18592003,18591932,18584344,18583876,18571923,18567994,18566379,18528705,18516291,18510993,18509272,18501058,18487949,18485221,18483367,18469855,18469157,18465330,18463983,18452393,18448999,18442934,18438707,18437556,18434311,18427947,18426980,18425397,18420586,18418848,18415713,18411043,18409049,18408761,18397823,18382020,18381409,18372913,18364263,18361882,19060846,19058300,19055823,19035464,19034514,19034345,19033425,19033391,19022565,19017630,19010824,19010816,19001334,18992321,18985033,18982746,18979558,18978678,18950845,18948375,18946768,18942860,18936968,18922900,18855148,18854030,18851945,18849186,18837888,18832579,18818943,18808065,18805633,18801081,18799465,18794094,18787015,18769124,18768436,18767043,18767028,18757082,18726892,18726004,18725974,18724389,18721072,18719096,18700973,18700025,18685491,18684832,18676680,18655187,18650488,18645672,18644987,18632642,18629635,18628098,18625725,18620996,9590694,15504738,7514177,16843263,15520177,10572067,15899872,10851066,7556068,15609325,12646923,12000754,19636371,19620488,19582575,19519604,19513552,19504444,19491269,19491261,19486885,19480740,19473722,19461506,19452317,19447869,19443884,19443706,19438491,19436038,19435911,19431122,19409162,19401546,19384064,19369627,19360341,19351817,19351776,19346874,19339270,19339104,19336545,19331129,19318561,19309522,19294521,19294416,19292937,19288496,19287975,19276186,19271345,19270645,19269014,19263517,19261604,19255335,19255333,19252432,19240718,19238210,19225924,19223897,19223403,19223396,19218427,19208313,19208263,19192581,19190626,19168584,19156142,19148499,19141397,19128465,19124506,19115932,19102009,19098403,19094228,19093231,19080257,19077306,19064572,19061514,19061288,19060928,19923913,19956951,20102407,20202990,20372832,20430735,20592365,19946741,20585851,20623180,20652398,20658263,20658522,21036723,16207817,19701706,19709164,20029029,20124457,20204407,20557373,20569072,20604955,20655838,20656317,20690807,20873988,20929083,20944115,19906305,20025767,20170166,20209452,20471394,20530441,15282549,20715101,20838384,20876285,20920984,14558950,15080792,16767099,17426253,17486068,17562274,17626754,17959545,18390199,18577250,18702822,18807177,19003545,19016323,19167335,19170196,19257987,19283847,19337752,19364815,19419954,19428047,19432892,19444644,19447586,19458631,19467571,19490591,19497323,19509242,19515834,20547458,20562656,20579853,19525458,19525980,19529774,19538720,19574486,19574641,19575783,19584056,19589785,19597704,19609744,19609946,19610068,19617342,19622585,19625176,19633047,19648825,19648968,19667268,19668225,19670699,19672706,19676041,19692168,19693011,19713842,19718021,19718948,19728854,19729798,19732720,19734843,19754954,19756737,19762712,19770385,19775342,19777609,19781441,19787269,19787624,19801938,19810139,19812598,19822081,19826412,19827890,19838027,19839717,19855434,19855437,19860576,19878568,19878579,19880061,20332114,20335174,20350214,20361287,20380571,20389136,20401632,20446891,20453000,20460098,20524057,19887485,19887555,19889613,19919879,19923826,19929405,19934303,19945923,19956635,19956862,20001343,20003286,20010870,20014947,20015385,20022944,20023245,20026098,20027338,20029472,20030876,20032008,20040392,20042572,20043086,20043103,20056944,20068093,20071783,20076883,20082479,20103628,20104975,20126619,20130985,20156584,20159553,20160030,20164030,20164500,20177704,20179161,20179226,20181947,20183914,20185966,20193482,20198351,20204273,20208134,20305688,20306655,20306668,20307320,19446313,20651405,20217132,20371674,20436503,20443098,20459529,20661016 1580988,1580989,1580990,2289947,2289920,2289921,2289922,2289923,2289924,2289925,2289926,2289927,2289928,2289930,2289931,2289932,2289933,2289941,2289981,2289987,2289979,2289955,2289934,2289935,68774,2289950,2298491,2298502,2298490,2298506,2298504,2298499,2298503,2292909,734938,734939,734940,2317963,4143515 2064 HM437238,NM_001005862,NM_004448,NG_007503,AB025285,AB221349,AB221350,AC079199,AC087491,AY208911,CH471152,L29395,M11767,M12036,M16792,M86910,M95667,AB025286,AF177761,AK131568,AK295195,AK296908,AK300321,AK309029,AK313683,BC080193,BC110392,BC167147,BI755753,BM678576,CN409735,CR591377,CR592336,M11730,X03363 ADN43069,NP_001005862,NP_004439,BAE15959,BAE15960,AAO18082,EAW60595,EAW60596,EAW60597,AAA35809,AAA35808,AAA35978,AAA58637,AAF30295,AAC37531,AAD56009,BAG58195,BAG59464,BAG62073,AAI67147,AAA75493,CAA27060,P04626,Q4H1F1,Q4H1F2,Q9NP09,Q9UK79,AAI56756 Hs.446352 CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1 c-erb B2/neu protein|herstatin|metastatic lymph node gene 19 protein|neuroblastoma/glioblastoma derived oncogene homolog|p185erbB2|proto-oncogene Neu|proto-oncogene c-ErbB-2|receptor tyrosine-protein kinase erbB-2|tyrosine kinase-type cell surface receptor HER2|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) protein-coding 1321667 ERBB2IP erbb2 interacting protein This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only two of them have been characterized to date. [provided by RefSeq] 1580863 11375975,16714539,10878805,19187442,19013433,18667832,18498353,17591701,17100642,17081983,16737969,16301319,16203728,16094384,15592455,15570572,15489334,15302935,15231748,15144186,14702039,12966186,12650946,12477932,12446668,12444095,12379659,12370826,12168954,12047349,11821434,11711544,11440998,11279080,11278603,10574462,17643375,20379614,20936779 55914 AF263744,AF276423,AI082776,AK001180,AK074288,AK295708,AK304693,AL704641,BC050692,BC115012,BC115015,BC126464,BC144075,CB998970,D62071,NM_018695,NM_001006600,AC010359,AC025442,CH471137,AB033051,AK027077 BAA86539,AAF77048,AAK69431,BAA91538,BAG58554,BAG65463,AAH50692,AAI15013,AAI15016,AAI26465,AAI44076,A0AVR1,Q1RMC9,Q1RMD0,Q96RT1,NP_061165,NP_001006600,EAW51332,EAW51333,EAW51334,EAW51335 Hs.726118 ERBIN|LAP2 ERBB2-interacting protein|OTTHUMP00000221985|OTTHUMP00000221987|OTTHUMP00000221988|densin-180-like protein|protein LAP2 protein-coding 733426 ERBB3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq] 2289947,2289967,2289949,2289980,68774,2289942,2289944,2289979,2289946,2289952,2289941,2289950,2289951,2298500,2298502,2298505,2298506,2298499,2298501,1580863,2317965 19913121,20549515,20628086,20628624,20647273,20586186,20537867,20581867,11325528,11278868,11189010,11173924,11166154,11114724,10799311,10710290,10682683,10527633,10383151,10095121,9694850,9681822,9565587,9516479,9168115,9168114,8669836,8188716,7847801,7689552,7685162,7656248,7592681,7538656,2164210,19060928,11867753,16169070,20695834,20951118,11389077,7514177,10572067,7556068,10559227,17701904,12646923,2687875,19367581,19288496,19240061,19148499,19073967,19047113,18985033,18978792,18942860,18940880,18852121,18799465,18768436,18700973,18698037,18632642,18625725,18593762,18559590,18424286,18398842,18381441,18270579,18231572,18198356,18182100,18172732,18056992,18036567,18024331,17823122,17697999,17671674,17652160,17638862,17634423,17631905,17627612,17554300,17554260,17463250,17275115,17210635,17203234,17177598,16958035,16896310,16867224,16729043,16690615,16685269,16675564,16622439,16401639,16307437,16199884,16143043,15862947,15731393,15704104,15688028,15611073,15520002,15499613,15498868,15489334,15378541,15358134,15225657,15162166,15141384,14737100,14702039,14647450,14614020,14576349,12888923,12853564,12840049,12824184,12789268,12768307,12618754,12556529,12483526,12477932,12411582,12154198,12093292,11914075,11859873,11821958,11807823,11555649,11546794,11337467,11326315,20628057,8889548,16341674,20726858,20800603,20881644,20962850,20029029,20661224,20668683,20682778,20227043,15282549,12939402,15583694,19390858,19430480,19447869,19481955,19497323,19609946,19622585,19648825,19659570,19737968,19797898,19878579,19951419,19995212,20064929,20103628,20203524,20204273,20351256,20446891,20467331,8702572,20587519 2289947,2289967,2289949,2289980,68774,2289942,2289944,2289979,2289946,2289952,2289941,2289950,2289951,2298500,2298502,2298505,2298506,2298499,2298501,2317965 2065 NM_001005915,NG_011529,AC034102,CH471054,U88356,AK124710,AK125028,NM_001982,AK291681,AK294719,AK295650,AK300909,AU100462,BC002706,BC041579,BC082992,BM837872,BT007226,BX641868,CR621450,M29366,M34309,S61953,U88357,U88358,U88359,U88360,AA524528,BU674508,DC344156,DC347955 NP_001973,NP_001005915,EAW96879,EAW96880,EAW96881,EAW96882,EAW96883,AAF86628,BAG54075,BAG54127,BAF84370,BAG57868,BAG58519,BAG62544,AAH02706,AAH82992,AAP35890,AAA35790,AAA35979,AAB26935,AAC39857,AAC39858,AAC39859,AAC39860,O75810,O75811,O75812,O75813,P21860,Q9BUD7,Q9NNX2 Hs.118681,Hs.622058 ErbB-3|HER3|LCCS2|MDA-BF-1|MGC88033|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3 avian erythroblastosis oncogene b 3|proto-oncogene-like protein c-ErbB-3|receptor tyrosine-protein kinase erbB-3|tyrosine kinase-type cell surface receptor HER3|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 protein-coding 732538 ERBB4 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1580989,2289949,2289978,2289992,2289977,2289981,2289942,2289956,2289979,2289943,2289947,2289993,2289980,2289987,2289950,2289951,2298502,2298505,2298506,2298499,734941,1580863,2317965 19913121,20600594,20628086,20303366,20550710,15026342,15023535,14702039,12869563,12807903,12678544,12648466,12637154,12532415,12528817,12477932,12454007,12297288,12175853,11825873,11741961,11679632,11278868,11254912,10918572,10725395,10537356,10353604,10348342,9771476,9565587,9516479,9334263,9275162,9230911,9168115,9168114,9135143,9110174,8619474,9419975,10572067,11867753,8383326,12646923,19367581,19263517,19240061,19171023,19148499,19098003,18985033,18973758,18721752,18668031,18662768,18424286,18335053,18334220,18182100,18094435,17945187,17909041,17903305,17761534,17681096,17638867,17598910,17505063,17487277,17177598,17164265,17018285,16934755,16914727,16912174,16891421,16878160,16842254,16832345,16819515,16778220,16767099,16729043,16685269,16606438,16518842,16477370,16463386,16428439,16402353,16251361,16249994,16203964,16187281,16170367,16061658,15985438,15979989,15863494,15788662,15746097,15735025,15685397,15562026,15534001,15489334,15248827,15084248,20921115,15282549,15345710,20585313,8062828,7721889,7700649,7689552,18334649,10839362,8617750,18029348,20881644,20975381,20029029,12939402,17463226,19017278,19390858,19439407,19447869,19481955,19561640,19596786,19609946,19624808,19718025,19736351,19808643,20022944,20204273,20379614,20446891,20603612 1580989,2289949,2289978,2289992,2289977,2289981,2289942,2289956,2289979,2289943,2289947,2289993,2289980,2289987,2289950,2289951,2298502,2298505,2298506,2298499,734941,2317965 2066 NM_001042599,NM_005235,NG_011805,AC012069,AC068970,AC079119,AC092680,AC092840,AC093823,AC096547,AC096765,AC105921,AC108216,AC108220,CH471063,CS238515,AB209697,AF007153,AI793060,AK024204,AK126298,AK308606,BC112199,BC143741,BC143747,BC143749,BQ015804,CR627023,L07868 NP_001036064,NP_005226,AAY15092,AAX88856,AAY14899,AAX82011,AAY24158,AAY24303,EAW70496,EAW70497,EAW70498,CAJ55818,BAD92934,AAI12200,AAI43742,AAI43748,AAI43750,AAB59446,Q15303,Q4ZG14,Q53QS8,Q53R25,Q53R48,Q53T57,Q580Q7 Hs.390729 HER4|MGC138404|p180erbB4 OTTHUMP00000209432|avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4|proto-oncogene-like protein c-ErbB-4|receptor tyrosine kinase|receptor tyrosine-protein kinase erbB-4|tyrosine kinase-type cell surface receptor HER4 protein-coding 1604628 ERC1 ELKS/RAB6-interacting/CAST family member 1 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 15489334,15324660,14723704,14702039,12477932,12203787,12168954,11929610,10697956,10470851,10337992,8889548,1733848,17353931,15218148,12391317,12923177,17690697,16964243,20201926,20379614,20562859,20932476 23085 NM_178040,NM_178039,NR_027946,NR_027948,NR_027949,AC004671,AC004672,AC004802,AC004803,AC004804,AC006561,AC092469,CH471116,X58046,AB015617,AB029004,AB053468,AB053469,AB053470,AB053471,AK000148,AK056312,AK091577,AK092201,AK097177,AK294351,AK309992,BC005065,BC037377,BC068006,BC073885,BC132782,BC132784,BC144287,BC150248,BM984956,CR603195 NP_829884,NP_829883,EAW88932,EAW88933,EAW88934,EAW88935,EAW88936,EAW88937,EAW88938,EAW88939,EAW88940,BAA88763,BAA83033,BAC54107,BAC54108,BAC54109,BAC54110,BAA90975,BAC03827,BAG57618,AAH68006,AAI32783,AAI32785,AAI50249,Q8IUD2 Hs.601216 Cast2|ELKS|FLJ31750|KIAA1081|MGC12974|RAB6IP2 ELKS/Rab6-interacting/CAST family member 1|ERC-1|OTTHUMP00000160633|RAB6 interacting protein 2|Rab6-interacting protein 2 protein-coding 1607056 ERC2 ELKS/RAB6-interacting/CAST family member 2 12923177,18519826,17903296,15728193,15489334,14734538,14723704,12477932,12391317,12168954,12163476,9205841,20201926,20379614,21057379 26059 AC025572,AC098478,AC099775,AC104302,AC105748,AC105753,AC116991,AC121255,AC121764,AC126119,AC130276,CH471055,AB002376,BC111550,BC112391,NM_015576 NP_056391,EAW65315,EAW65316,BAA20832,AAI11551,AAI12392,O15083 Hs.476389 CAST|CAST1|ELKSL|KIAA0378|MGC133063|MGC133064|SPBC110|Spc110 CAZ-associated structural protein|ERC protein 2|OTTHUMP00000212914|OTTHUMP00000212915|cytomatrix protein p110 protein-coding 1315921 ERCC1 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 1580863,2313668 20530282,20627363,20644561,20736746,20817763,19875192,17720715,9722633,16076955,7559382,8811092,17055345,10583946,7657672,9256505,17614221,14690602,10214908,11313499,8197175,19620936,19573080,19552012,19549713,19536092,19513514,19470925,19434073,19421825,19362955,19361884,19339270,19332728,19318434,19297315,19289372,19270000,19258314,19257887,19247656,19237606,19203783,19194123,19124499,19116388,19074750,19068092,19064572,19035454,19029193,19020759,19009659,18990748,18990028,18977553,18854777,18830263,18823676,18797464,18676680,18672388,18640939,18635523,18623378,18616887,18615480,18604718,18594541,18564169,18520795,18509181,18505590,18494946,18483312,18478337,18451256,16341770,16338413,16315315,16308313,16284380,16284373,16224397,16212814,16195237,16189514,16144923,16034668,15958648,15936590,15932882,15922480,15885892,15849729,15788669,15746057,15746040,15734977,15709194,15688021,15489334,15297394,15277258,15213713,15173087,15140544,15095299,14734547,14702039,12869411,12865926,12800797,12645871,12643788,12477932,12220217,12189194,12164325,11936875,11753647,11707424,11062157,10498399,10320375,9827920,9653453,9360634,8432525,8275084,8197174,7598728,6462228,3290851,3034490,2821019,2471070,2420469,18396111,18395930,18386788,18358500,18347182,18332046,18289367,18270339,18204222,18081788,18036700,18026184,18024864,18006494,17987380,17961161,17932351,17925548,17912758,17685459,17617021,17606717,17549067,17534174,17522621,17502833,17438655,17401013,17314486,17313739,17303907,17299578,17273966,17229776,17222938,17210993,17197435,17151930,17131345,17078101,17064812,16985021,16979838,16899630,16896002,16875718,16819291,16817948,16723154,16690207,16622263,16609022,16537713,16510122,16507781,16407418,16393248,16364765,16351803,18425336,19538866,20846399,18430179,20104194,20518486,20395129,20470393,20728204,16341674,18029348,20689757,20731661,20734048,20813000,20863778,20864414,20935060,20957144,20979931,21029695,21048041,21057378,21075476,20332140,20504223,20651406,20673515,19488864,21091775,20673527,20677561,10675489,14706347,16756962,18756932,19150580,19170196,19173905,19235214,19240185,19253035,19543324,19574766,19580345,19596235,19625176,19626585,19636001,19661089,19661343,19664717,19667277,19672255,19687761,19692168,19773279,19786980,19789190,19805513,19822419,19832035,19850635,19878615,19922504,19940136,19956886,19960344,20003391,20003463,20009541,20021611,20047592,20061190,20070981,20085902,20189873,20216541,20221251,20232390,20331623,20351547,20354815,20368715,20378615,20385995,20391138,20429839,20453000,20462983,20495366,20496165,20504250,20508946,20522537,9013642 2313668 2067 M13194,M28650,CR616265,NM_202001,AC092309,AC139353,AF512555,CH471126,M26163,AA761510,AB069681,AF001925,AF433652,AK092039,AK314884,BC008930,BC052813,BM011724,BM450988,BM789972,BQ671113,BT019806,BU627436,CR590512,NM_001983,BQ019990,DB468563,NG_015839,NM_001166049 AAA35810,P07992,Q7Z7F5,Q8WWH8,Q96S40,ABM83928,ABM87247,AAA52394,NP_001974,NP_973730,AAM34796,EAW57348,EAW57349,EAW57350,AAA52395,BAB62810,AAC16253,AAL56574,BAG52472,BAG37398,AAH08930,AAH52813,AAV38609,NP_001159521 Hs.435981 COFS4|RAD10|UV20 DNA excision repair protein ERCC-1 protein-coding 1319264 ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2302855,1331525,1601070,1601068,1601069,1580863,2317223,2317228 18095557,19913121,20530282,20559012,20568454,20571908,20575039,20601096,20627363,20627704,20628086,20634891,20644561,20649433,20651612,20708344,20720310,20723346,20817763,20797633,20564624,18509181,18505590,18495522,18494946,18483312,18478337,18470933,18459458,18454848,18448328,18442012,18420361,18415712,18415014,18394656,18386788,18365755,18358500,18349297,18349268,18347182,18335219,18320070,18315909,18267032,18246963,18230301,18204222,18196582,18177646,18085999,18081788,18075460,18044339,18043991,18035379,18006925,17953974,17952468,17932351,17925548,17913280,17912469,17898541,17896209,17825393,17728339,17712032,17705814,17696747,17695467,17693188,17687452,17685459,17637462,17630853,17630376,17627014,17617021,17605237,17604576,17593927,17575242,17556064,16043197,16038584,16037119,16030124,16030112,16002061,16000577,15992842,15971256,15941969,15936590,15914277,15914210,15896456,15887293,15886521,15885892,15878910,15849729,15837542,15834925,15824172,15824159,15802298,15776433,15764301,15754315,15746160,15746040,15729710,15709194,15679883,15635413,15615908,15598761,15598760,15534626,15523694,15489334,15471894,15381366,15339847,15333465,15298945,15277258,15220921,15213713,15199549,15199548,15173214,15159312,15146197,15140544,15090466,14735199,14729591,14702039,14688016,14668933,14652287,14625810,14624713,14569024,14568296,12883749,12865926,12844488,12820975,12749816,12740916,12692111,17548684,17531525,17504986,17498557,17479411,17470448,17466626,17438703,17438655,17412371,17410042,17409981,17403617,17401013,17374967,17363013,17313739,17299578,17290401,17264068,17242676,17210993,17197435,17191090,17164380,17164360,17158087,17151930,17131345,17111423,17078101,17063276,17050553,17023576,17018785,17009404,16997330,16985021,16896002,16889696,16880786,16875933,16875718,16875604,16865671,16835333,16824555,16823510,16806697,16738949,16710452,16707649,16685590,16677755,16672066,16652373,16649224,16646069,16638864,16622263,16609022,16571649,16564556,16542436,16537713,16507781,16492920,16492913,16475125,16465622,16458430,16435384,16407418,16399771,16373199,16369171,16351803,16344560,16343742,16341674,16324877,16319991,16311243,16308313,16284380,16284373,16284370,16280050,16258177,16217922,16214924,16212814,16195237,16172101,16150943,16061005,16054878,10024882,9771713,9766681,9765201,9758621,9651670,9570510,9334327,9311822,9238033,9195225,9184228,9130708,9121429,9118947,9101292,9054383,8934526,8876669,8849451,8786141,12645871,8628270,8692841,17614221,8946909,7663514,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,19492231,19484764,19470925,19458053,19434073,19432884,19429237,19414392,19406934,19390575,19367277,19362955,19332728,19280628,19274602,19270000,19257887,19242824,19237606,19203783,19177501,19162321,19124519,19116388,19109787,19101034,19096231,19074885,19074750,19064572,19055600,19052983,19051060,19041121,19029193,19027952,19027756,18990748,18977234,18946634,18854777,18838045,18830263,18825991,18817897,18797464,18778871,18767034,18752184,18711149,18709642,18701435,18676680,18641418,18637129,18636124,18635523,18630471,18627000,18616887,18603015,18578568,18575735,18569591,18559563,18544627,18534129,17549067,12579497,12552590,12477932,12458209,12451985,12435843,12399122,12393447,12376500,12372413,12359753,12243508,12220217,12151350,12124811,12115580,12110342,11960912,11891028,11888908,11872635,11751380,11709541,11532866,11470747,11443545,11375896,11319176,11309287,11278765,11266560,11266437,11245433,11242112,11238179,11156600,11133811,11062469,10866664,10447254,10438593,10082552,10066804,8663148,11445587,10801852,8652557,8692842,9405375,2835663,17088560,11335038,8675009,10583946,8571952,8413672,8213812,7920640,7849702,7825573,7585650,2184031,1729695,8152490,20723587,19106100,20127278,20731661,20734048,20813000,20842450,20850372,20863780,20864414,20935060,20957144,20979431,20981350,20981556,21047201,21048041,21057378,21075476,20651370,20677654,16884686,19170196,19466538,19536092,19554020,19561388,19573080,19592152,19615095,19620936,19625176,19636001,19638463,19642387,19657998,19669592,19692168,19706646,19706757,19707883,19724896,19733688,19736055,19762325,19773279,19786980,19789190,19826048,19834688,19846926,19858398,19878615,19895736,19902366,19908066,19914098,19919686,19922504,19934020,19936841,19954624,19957595,20003391,20003463,20047592,20061190,20070155,20104979,20111903,20150366,20170971,20183911,20199546,20204500,20216541,20229274,20232359,20232390,20351547,20354818,20368715,20375340,20379402,20379847,20385995,20391138,20391347,20426969,20429839,20431719,20453000,20495366,20496165,20504250,20508946,20514470,20522537,20530453,9852112 2302855,1331525,1601070,1601068,1601069,2317223,2317228 2068 NM_000400,NM_001130867,NG_007067,AY092780,CH471126,L47234,AK092872,AK130849,AK303358,AL535248,BC008346,BC108255,BC110522,BC110523,BG719746,BM769772,BM988142,BT006883,BX376468,CN388234,DA409300,X52221,X52222 NP_000391,NP_001124339,AAM45142,EAW57341,EAW57342,AAL48323,BAC85446,BAG64418,AAI08256,AAI10523,AAI10524,AAP35529,CAA36463,CAA36464,P18074,Q2TB79,Q6ZNQ5,Q7KZU6 Hs.487294 COFS2|EM9|MGC102762|MGC126218|MGC126219|TTD|XPD BTF2 p80|CXPD|DNA excision repair protein ERCC-2|DNA repair protein complementing XP-D cells|OTTHUMP00000045861|OTTHUMP00000045862|TFIIH 80 kDa subunit|TFIIH basal transcription factor complex 80 kDa subunit|TFIIH basal transcription factor complex helicase XPD subunit|TFIIH basal transcription factor complex helicase subunit|TFIIH p80|basic transcription factor 2 80 kDa subunit|xeroderma pigmentosum complementary group D|xeroderma pigmentosum group D-complementing protein protein-coding 1316156 ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xeroderma pigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thus functions in class II transcription. [provided by RefSeq] 2302855,1598911,1598912,1580863 19106100,17466626,8663148,2167179,10801852,8652557,9173976,9405375,17088560,11335038,16914395,8675009,10583946,8692841,17509950,17614221,8946909,8692842,7663514,1939271,2449431,9512541,9582279,9790902,10214908,12393749,12646563,19338310,19237606,19064572,18950845,18676680,17081983,16835333,16710452,15549133,15489334,15375507,15220921,14702039,14614013,14569024,12865926,12820975,12477932,12393803,12372413,12080057,11572868,11278765,1916809,1741247,8521393,15893730,12379483,20543986,10862089,10827951,10734143,10447254,10438593,10403766,10082552,10066804,10024882,9874796,9765201,9651670,9570510,9373149,9334327,9311822,9184228,9130708,9121429,9118947,9054383,9012405,8934526,8876669,8849451,8628270,8408834,8304337,8202161,8194528,8157004,8152490,8125298,7926747,2111438,11313499,10866664,1956789,20211142,20813000,20530579,17438371,17643375,19170196,19573080,19625176,19692168,19773279,20004634,20208140,20453000,20496165,20522537,9852112 2302855,1598911,1598912 2071 NG_007454,AC110926,AY163769,CH471103,AK091500,AK095557,AK127469,AK222465,AK290474,AK300250,AK307338,AK309405,BC008820,CR612390,M31899,NM_000122 NP_000113,AAY15069,AAN46739,EAW95311,EAW95312,EAW95313,EAW95314,BAG52374,BAG53083,BAD96185,BAF83163,BAG62016,AAH08820,AAA52396,P19447,Q53HW5,ABM84728,ABW03630 Hs.469872 BTF2|GTF2H|RAD25|TFIIH|XPB BTF2 p89|DNA excision repair protein ERCC-3|DNA repair protein complementing XP-B cells|TFIIH 89 kDa subunit|TFIIH basal transcription factor complex 89 kDa subunit|TFIIH basal transcription factor complex helicase XPB subunit|TFIIH p89|basic transcription factor 2 89 kDa subunit|xeroderma pigmentosum group B-complementing protein|xeroderma pigmentosum, complementation group B protein-coding 1312517 ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4 The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6). 1580863,1601093,2317223 20601096,20634891,20644561,11790111,10413517,14734547,8797827,9722633,14728600,17055345,10583946,16678501,14690602,10214908,11313499,12571280,19536092,19434073,19423537,19339270,19297315,19258314,19237606,19124519,19116388,19074885,19064572,19029193,18990748,18838045,18830263,18812185,18767034,18709642,18701435,18676680,18551366,18544627,18396111,18270339,18068852,18026184,18020456,18006494,17945097,17912758,17685459,17682675,17575242,17438655,17313739,17299578,17210993,17081983,17078101,17018596,16823510,16806697,16638864,16609022,16537713,16492920,16399771,16393248,16338413,16284380,16284373,16258177,16195237,16076955,16034668,15936543,15932882,15886521,15849729,15184880,15095299,14652281,14625810,12477932,11895912,11259578,10644440,10479728,10447254,10074455,9580660,9579555,9485007,8887684,8332082,8197175,20585324,20694148,20372803,19394292,20846399,20518486,20731661,20864414,20957144,11401546,19170196,19595721,19595722,19596235,19596236,19625176,19692168,19902366,19920816,19936841,19956886,20061190,20062074,20150366,20183911,20199546,20201926,20221251,20429839,20453000,20496165,20522537,7559382 1601093,2317223 2072 NG_011442,AC009173,AC010401,AF491814,CH471112,L76568,L77890,AI470593,AK289726,AK301930,AK308341,BC020741,BC142631,U64315,NM_005236 NP_005227,AAL91593,EAW85117,EAW85118,AAB50174,BAF82415,BAG63350,AAH20741,AAI42632,AAB07689,Q92889,AAI60102 Hs.567265 ERCC11|RAD1|XPF DNA excision repair protein ERCC-4|DNA repair endonuclease XPF|DNA repair protein complementing XP-F cells|OTTHUMP00000045868|excision-repair, complementing defective, in Chinese hamster|xeroderma pigmentosum group F-complementing protein|xeroderma pigmentosum, complementation group F protein-coding 1342473 ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G) is involved in excision repair of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been described, but the biological validity of all variants has not been determined. [provided by RefSeq] 1580863 20601096,20644561,17712032,17685459,17575242,17494052,17476281,17466625,17438655,17374967,17313739,17299578,17164380,17121236,17081983,17078101,16985021,16979838,16823510,16738949,16646069,16609022,16537713,16536785,16507781,16492920,16399771,16343742,16284373,16284370,16258177,16195237,16094634,16043197,15992842,15849729,15746040,15590680,15572672,15494739,15489334,15328203,15302935,15082767,14729591,14726017,14688016,12869423,12865926,12494477,12477932,12060391,11841555,11266544,11228268,10498399,10447254,10408173,9927729,9305916,8483505,8483504,8413238,8206890,8088806,8078765,20233728,20868484,16246722,8090225,12644470,8652557,10026181,7510366,16167068,10583946,7657672,17208056,11259578,10214908,11313499,8710877,19573080,19536092,19444904,19434073,19430706,19414392,19404856,19350405,19289372,19280628,19270000,19237606,19177501,19157633,19124519,19116388,19096231,19074885,19064572,19029193,18990748,18854777,18830263,18825991,18767034,18709642,18701435,18676680,18478970,18320070,18270339,18204222,18079701,18077223,18026184,17932351,17893230,17855454,17825393,7951246,7651464,7517009,2276736,1483924,20731661,20813000,19625176,19661089,19692168,19693700,19740755,19773279,19789190,19878615,19936841,19954624,20150366,20183911,20199546,20232390,20391347,20453000,20460046,20496165,20522537,20530453,15358233,16713569,17643375,19170196 2073 NG_007146,AF255433,AF255436,AF550128,AL157769,CH471085,X71341,X71342,AF462447,AK294708,AK299758,AK303558,BC031522,BQ707436,BX647399,D16305,L20046,NM_000123,X69978 NP_000114,AAF89177,AAF89178,AAF89179,AAN46091,CAI14529,CAI14530,CAI14531,EAX09071,EAX09072,CAA50481,AAP97715,BAG57863,BAG61647,BAG64582,AAH31522,BAA03812,AAC37533,CAA49598,P28715,Q9HD60,Q9NR54,ABM82744,ABM85932 Hs.258429 COFS3|ERCM2|UVDR|XPG|XPGC DNA excision repair protein ERCC-5|DNA repair protein complementing XP-G cells|XPG-complementing protein|excision repair protein|xeroderma pigmentosum complementation group G protein|xeroderma pigmentosum group G-complementing protein|xeroderma pigmentosum, complementation group G protein-coding 1323005 ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The protein has ATP-stimulated ATPase activity; there are contradictory publications reporting presence or absence of helicase activity. The protein appears to interact with several transcription and excision repair proteins, and may promote complex formation at repair sites. Mutations in this gene result in Cockayne syndrome type B. [provided by RefSeq] 1580863 16258177,16399771,16128801,15746040,15548521,15486090,15231748,15226310,15164054,14702039,12606941,12419226,12121485,12095617,12060667,11809892,10944529,10882116,10767341,10739753,10498399,10447254,10196384,9774388,9450932,9443879,9372911,9137418,8652557,8382798,7663514,2172786,1951442,1349298,1339317,12560492,16107709,8999876,16916636,16246722,7664335,9326587,9973627,10564257,11313499,19626602,19573080,19481676,19444904,19270000,19237606,19221478,19179336,19132999,19116388,19074885,19064572,19015224,18854777,18789574,18784753,18767034,18708399,18676680,18656484,18628313,18446857,18369450,18270339,18185538,18183039,18026184,17996703,17933579,17855454,17854076,17728339,17707230,17575242,17567611,17438655,17313739,17119055,16964243,16772382,16754848,16751180,16601682,16565220,16537713,16492920,20541997,20181933,20100872,20813000,21072178,12477932,19170196,19580815,19625176,19661089,19692168,19773279,19789190,19878615,19894250,19948975,20044625,20122405,20379614,20453000,20496165,20522537 2074 NM_000124,NG_009442,AC073366,AL138760,AY204752,CH471187,AB209504,AK094670,AK130100,AK303022,BC127104,CR749388,L04791 NP_000115,CAH70291,AAO13487,EAW93094,EAW93097,BAD92741,BAG64148,AAI27105,CAH18238,AAA52397,Q03468,Q59FF6 Hs.654449 ARMD5|CKN2|COFS|COFS1|CSB|RAD26 ATP-dependent helicase ERCC6|Cockayne syndrome B protein|Cockayne syndrome group B protein|DNA excision repair protein ERCC-6|Rad26 homolog|cockayne syndrome protein CSB protein-coding 1606557 ERCC6L excision repair cross-complementing rodent repair deficiency, complementation group 6-like 17353931,18418076,17956945,17218258,15917148,15302935,14702039,12477932,20130082,19596235,19904549 54821 BC111486,BM454829,BU431499,CR620566,EU069463,NM_017669,AL135749,CH471213,AK000112,AK056494,AK074719,AW015865,AY121802,BC008808 AAI11487,ABU25227,Q2NKX8,NP_060139,EAW71813,EAW71814,BAA90952,BAC11160,AAM82750,AAH08808 Hs.47558 FLJ20105|MGC131695|PICH ATP-dependent helicase ERCC6-like|DNA excision repair protein ERCC-6-like|Plk1-interacting checkpoint helicase|SNF2/RAD54 family protein|excision repair cross-complementing rodent repair deficiency complementation group 6 - like|excision repair protein ERCC6-like|tumor antigen BJ-HCC-15 protein-coding 1601889 ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8 This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. [provided by RefSeq] 17297471,20100872,8999876,16916636,12732143,11782547,18708399,18270339,17996703,17242193,16751180,16344560,16246722,15744458,15489334,14702039,14661080,12477932,10944529,9250659,8876179,8596535,7664335,11313499,16169070,16949367,17392787,19237606,19615732,19894250,20496165,20522537,20575039 1161 NM_000082,NG_009289,AC022445,AC104113,AY213194,CH471123,AK056931,AK226129,AK290726,AK294856,AK304610,AK314511,AL691658,BC009793,BT020021,CR536563,DA169067,U28413 NP_000073,AAO21128,EAW55003,EAW55004,EAW55005,BAG51829,BAF83415,BAG57960,BAG65395,BAG37111,AAH09793,AAV38824,CAG38800,AAA82605,Q13216 Hs.435237 CKN1|CSA Cockayne syndrome WD-repeat protein CSA|DNA excision repair protein ERCC-8|cockayne syndrome WD repeat protein CSA protein-coding 1352562 ERCM1 excision repair complementing defective repair in mouse cells 2076 1350156 ERDA1 expanded repeat domain, CAG/CTG 1 9398837,9774773 9030 AB007820 730898 EREG epiregulin Epiregulin is a member of the epidermal growth factor family. Epiregulin can function as a ligand of EGFR (epidermal growth factor receptor), as well as a ligand of most members of the ERBB (v-erb-b2 oncogene homolog) family of tyrosine-kinase receptors. [provided by RefSeq] 1580863,2317963 10681561,9419975,14581411,9337852,9990076,12702554,12898511,18948081,18835871,18497965,18292222,18079685,17962208,17429393,16888076,15474502,15274392,14572630,12477932,9553109,19138957,18821565 2317963 2069 NM_001432,AC021180,CH471057,AK314959,BC035806,BC136404,BC136405,CR541887,D30783 NP_001423,EAX05709,BAG37463,AAI36405,AAI36406,CAG46685,BAA22146,O14944 Hs.115263 ER proepiregulin protein-coding 1323738 ERF Ets2 repressor factor Members of the ETS family of transcription factors, such as ERF, regulate cell proliferation and differentiation. They share a highly conserved DNA-binding domain, the ETS domain, that recognizes the sequence GGAA/T (de Castro et al., 1997 [PubMed 9192842]). For further information on ETS transcription factors, see ETS1 (MIM 164720).[supplied by OMIM] 1580863 7588608,17699159,17525531,17081983,16964243,15489334,15057824,14729966,14678752,14611815,12533699,12477932,12062430,10330152,9192842,9136988,11748221 2077 NM_006494,AC006486,CH471126,U58535,AK297666,AK300627,AK314278,BC022231,BM905776,DC299706,U15655,AB209271 NP_006485,AAD11987,EAW57116,EAW57117,EAW57118,BAH12646,BAH13317,BAG36938,AAH22231,AAA86686,P50548,BAD92508,ABM84494,ABM87816 Hs.655969 PE-2|PE2 ETS domain-containing transcription factor ERF protein-coding 1348469 ERG v-ets erythroblastosis virus E26 oncogene homolog (avian) 1580863 20526358,11791185,8502479,3476934,19359602,19339269,19223501,19205910,19190343,19156837,19151660,19147579,19040532,19029822,18922926,18694509,18676740,18648544,18519826,18519769,18519767,18505969,18483239,18474293,18195090,18065961,17654723,17646667,17632455,17584912,17390040,17143509,17032499,16954520,16820092,16575875,16381901,16344560,16303180,16275934,16215946,16140924,15988032,15922298,15489336,15302935,15068237,14693372,12554743,12477932,12449421,11472898,11278640,11076863,10949935,10830953,10574717,9681824,9334186,8510931,8290279,8187069,8076344,17922029,20662065,20546020,20713528,20676125,20473283,20651988,20442300,20966395,21040948,3299708,3274086,8040301,20585344,19555438,20562851,17289661,19396154,19407851,19465903,19494719,19584163,19647299,19649210,19664128,19825963,19933109,20018353,20068566,20104229,20118910,20160063,20303538,20308669,20308673,20379614,20478527,20800881 2078 NM_004449,NM_001136154,NM_001136155,NM_182918,AP001035,AP001036,AP001037,AP001038,AP001422,AP001423,AP001426,CH471079,M17254,AF015313,AK297807,AK300395,AK301277,AK303518,AK304662,AK309469,AY204740,AY204741,AY204742,AY204743,BC040168,BE245360,BF431907,DA850637,DC394344,EU432099,M21535,S68130,S72621 NP_004440,NP_001129626,NP_001129627,NP_891548,EAX09679,EAX09680,AAA52398,AAB65763,BAG60145,BAG62127,BAG62837,BAG64546,BAG65437,AAP41719,AAP41720,AAH40168,ACA81385,AAA35811,AAB29724,AAB31417,P11308,Q16031,CAL37450,ABZ91999 Hs.473819 erg-3|p55 OTTHUMP00000115968|OTTHUMP00000115969|OTTHUMP00000115970|OTTHUMP00000115971|OTTHUMP00000115972|TMPRSS2-ERG prostate cancer specific|ets-related|transcriptional regulator ERG|transcriptional regulator ERG (transforming protein ERG)|transforming protein ERG|v-ets avian erythroblastosis virus E26 oncogene related|v-ets erythroblastosis virus E26 oncogene like|v-ets erythroblastosis virus e26 oncogene like (avian) protein-coding 1607015 ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq] 15308636,15489334,14702039,12477932,11230166,10931946,10574461,19724895,19851296,20198315,20379614 57222 NM_001031711,AC008429,AC110011,CH471062,AB033007,AF267855,AK000752,AK026049,AK027085,AK097183,AK303453,AL133060,AL136753,BC012766,BC014490,CD365875,CR533474,CR601416,CR604244,DB443891 NP_001026881,EAW61422,EAW61423,BAA86495,AAG44724,BAG64498,CAB66687,AAH12766,AAH14490,CAG38505,Q969X5 Hs.509163 ERGIC-32|ERGIC32|FLJ39864|KIAA1181|MGC14345|NET24 ER-Golgi intermediate compartment 32 kDa protein|endoplasmic reticulum-Golgi intermediate compartment protein 1|endoplasmic reticulum-golgi intermediate compartment 32 kDa protein protein-coding 1605678 ERGIC2 ERGIC and golgi 2 ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM] 15308636,17980171,16989575,15489334,14702039,12932305,12477932,11445006,9373149,8889548,8125298 51290 AC009318,CH471094,CQ782452,AF183410,AF216751,AF302767,AK074520,AK222799,AL834128,BC000887,BC064522,BC107794,NM_016570,BF681475,BI547753,BU675240,CR615422,CR624277 NP_057654,EAW96592,EAW96593,EAW96594,CAF85738,AAG09679,AAF61208,AAK77355,BAC11037,BAD96519,CAD89902,AAH00887,AAI07795,Q86TD3,Q96RQ1,Q9HC06,ABZ92333 Hs.339453 CDA14|Erv41|MGC111152|PTX1|cd002 CD14 protein|endoplasmic reticulum-Golgi intermediate compartment protein 2 protein-coding 1317746 ERGIC3 ERGIC and golgi 3 1580863 15308636,17020792,16303743,15489334,14702039,12747765,12477932,11780052,10810093,17207965 51614 NM_015966,AL121586,CH471077,AF077030,AF091085,AF116614,AF151812,AF308298,AK074550,NM_198398,AK096484,AK300916,AL161963,BC009765,BC014014,BU528333,CA489637,CR591725,CR592617,CR599797,CR600670,CR602704,CR604308,CR607525,CR610449,CR612111,CR613283,CR614105,CR615343,CR622738,CR623909,EF206690 NP_938408,NP_057050,CAB89412,CAI42842,CAI42843,CAI42845,CAO03348,CAO03349,EAW76199,EAW76200,AAD27763,AAC72954,AAF71038,AAD34049,AAG48265,BAC11054,BAG62548,AAH09765,AAH14014,ABM92879,O95330,Q5JWS0,Q5JWS1,Q9Y282,ADQ32757 Hs.472558 C20orf47|CGI-54|Erv46|NY-BR-84|PRO0989|SDBCAG84|dJ477O4.2 OTTHUMP00000030762|OTTHUMP00000196100|endoplasmic reticulum-Golgi intermediate compartment protein 3|endoplasmic reticulum-localized protein ERp43|serologically defined breast cancer antigen 84|serologically defined breast cancer antigen NY-BR-84 protein-coding 1320463 ERH enhancer of rudimentary homolog (Drosophila) 15166316,17353931,9074495,8786099,18029348,18500978,18081865,17444515,16169070,15794639,15635413,15489334,12477932,15670829,19710015 2079 NM_004450,CH471061,AK130850,AK312186,BC014301,BC071709,BT006877,CR450298,CR542178,CR618598,D85758,U66871,AL157996 NP_004441,EAW80989,EAW80990,BAG35119,AAH14301,AAH71709,AAP35523,CAG29294,CAG46975,BAA12865,AAC51172,P84090 Hs.509791 DROER|FLJ27340 enhancer of rudimentary homolog protein-coding 1605015 ERI1 exoribonuclease 1 14536070,17135487,16912046,15489334,15451662,14961122,12477932,18172165,20379614 90459 NM_153332,AC087579,AC087763,CH471157,AK024646,AK226180,AK291062,AK301506,AL137679,AV709794,AY310909,BC035279,CR593780 NP_699163,EAW65568,EAW65569,EAW65570,BAF83751,BAG63016,CAB70871,AAQ21219,AAH35279,Q8IV48,ABM81767,ABM84922 Hs.20000 3'HEXO|HEXO|MGC35395|THEX1 3' exoribonuclease|3'-5' exonuclease ERI1|3'-5' exoribonuclease 1|Eri-1 homolog|enhanced RNAi three prime mRNA exonuclease homolog 1|histone mRNA 3' end-specific exonuclease|histone mRNA 3'-end-specific exoribonuclease|histone mRNA 3'-exonuclease 1|protein 3'hExo|three prime histone mRNA exonuclease 1|three prime mRNA exonuclease 1 protein-coding 1605306 ERI2 exoribonuclease 2 17135487,12477932,10819331,19913121,20628086 112479 NM_080663,NM_001142725,AC004381,CH471228,AB040937,AK127391,AK292594,AK304347,BC010503,BX437401 AAC31669,NP_542394,NP_001136197,EAW66836,EAW66837,BAA96028,BAC86956,BAF85283,BAG65191,AAH10503,A8K979,ABM85927,ABM85928 Hs.248437 EXOD1|KIAA1504|MGC16943 ERI1 exoribonuclease 2|enhanced RNAi three prime mRNA exonuclease homolog 2|exonuclease domain containing 1|exonuclease domain-containing protein 1|exoribonuclease 2 protein-coding 1318310 ERI3 exoribonuclease 3 19913121,20628086,16344560,12477932,11571277,9110174,8619474 79033 AC004254,AL035417,AL390776,CH471059,AF007157,AK026596,AK290567,AK293833,AK297708,AU125565,BC001072,BC004456,BC144384,BG323839,CR590749,CR593365,CR594537,CR596987,CR600391,CR608125,CR613116,CR613479,CR621068,NM_024066,CR621093,CR621816,CR625716 NP_076971,AAC04618,CAI23193,CAI23194,CAI23195,CAI23196,CAI12490,CAI12491,CAI12492,CAI12493,CAI12494,EAX07042,EAX07043,EAX07044,EAX07045,AAC19158,BAF83256,BAG57236,BAG60065,AAH01072,AAH04456,O43414,Q5T2T5,Q5T2T6,Q5T2T8,AAI56813 Hs.132497 FLJ22943|MGC2683|PINT1|PRNPIP ERI1 exoribonuclease 3|H_RG158K20.1|OTTHUMP00000008953|OTTHUMP00000008984|WUGSC:H_RG158K20.1|enhanced RNAi three prime mRNA exonuclease homolog 3|exoribonuclease 3|prion interactor 1|prion protein interacting protein|prion protein-interacting protein protein-coding 1602977 ERICH1 glutamate-rich 1 18029348,15489334,14702039,12477932 157697 CR618989,CR613798,AC090691,AC100797,CH471181,AF161437,AK055649,AK125470,AK290264,AK297476,AL833324,BC016017,BC046243,BX647093,CR592212,NM_207332 Q86X53,NP_997215,EAW51465,EAW51466,EAW51467,AAF28997,BAF82953,BAG59897,AAH46243,ACE87445,ACE86757 Hs.655310 HSPC319 glutamate-rich protein 1 protein-coding 1315163 ERLEC1 endoplasmic reticulum lectin 1 19917667,18502753,18264092,16531414,15815621,15489334,14702039,12975309,12477932,9110174,8619474 27248 NM_001127397,NM_001127398,AC007883,CH471053,AF131743,AF131849,AK001913,AK315477,NM_015701,AY453410,BC013129,BC022228,BU784879,CR597633,CR601764,CR604548,CR608194,CR609693,CR613668,CR616366,CR623209,DB451941,DB539199,AY358717 NP_056516,NP_001120869,NP_001120870,AAY24352,EAX00163,EAX00164,EAX00165,EAX00166,AAD20029,AAD20060,BAA91974,BAG37861,AAQ89079,AAR26725,AAH13129,Q96DZ1,ABM85688,AAH22228 Hs.438336,Hs.713845 C2orf30|CL24936|CL25084|XTP3-B|XTP3TPB ER lectin|XTP3-transactivated gene B protein|XTP3-transactivated protein B|endoplasmic reticulum lectin 1|erlectin 1 protein-coding 2816356 ERLEC1P1 endoplasmic reticulum lectin 1 pseudogene 1 100288870 AP001347,NG_022985 pseudo 1344396 ERLIN1 ER lipid raft associated 1 1580863 16835267,18940312,15489334,15342556,15164054,14702039,12477932,11118313,9373149,8125298,20471030,18029348,19240031,19751772,20379614,21048031 10613 NM_001100626,NM_006459,AL138921,CH471066,AF064093,AK056574,AK127017,AK222480,AK298427,AK315580,BC031791,BP280488,BQ101058,BU192550,CR607760,CR626509 NP_001094096,NP_006450,CAQ10515,CAQ10516,EAW49846,EAW49847,AAC26658,BAD96200,BAG60649,BAG37953,AAH31791,O75477,ABM85458,ABW03724 Hs.150087 C10orf69|Erlin-1|KE04|KEO4|RP11-316M21.1|SPFH1 Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9|OTTHUMP00000197867|SPFH domain family, member 1|SPFH domain-containing protein 1|endoplasmic reticulum lipid raft-associated protein 1|erlin-1|spfh domain family, member 1|stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1 protein-coding 1350824 ERLIN2 ER lipid raft associated 2 18029348,16835267,17502376,15897872,15489334,15342556,14702039,12975309,12477932,11256614,10449903,8889548,19240031,19751772 11160 NM_007175,NM_001003791,NM_001003790,AB018790,AC138356,CH471080,AK057557,AK291394,AK297279,AL442077,AY358108,AY358851,BC005950,BC035980,BC048308,BC050611,BC067765,BI560439,BP353279,BU608317,CR613804,CR616571,CR621478 NP_009106,NP_001003791,NP_001003790,BAA36845,EAW63365,EAW63366,BAF84083,BAG59750,CAC09443,AAQ88475,AAQ89210,AAH05950,AAH48308,AAH50611,AAH67765,O94905,Q6UXU5 Hs.705490 C8orf2|Erlin-2|MGC87072|NET32|SPFH2 SPFH domain family, member 2|SPFH domain-containing protein 2|endoplasmic reticulum lipid raft-associated protein 2|erlin-2|spfh domain family, member 2|stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2 protein-coding 1320643 ERMAP erythroblast membrane-associated protein (Scianna blood group) The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 15469845,18426659,19856728,11549310,16710414,16371048,15783300,15660834,15489334,14702039,12477932,12393480,11783959,6459052,118583 114625 NM_018538,NG_008749,AJ505027,AJ505028,AJ505029,AJ505030,AJ505031,AJ505032,AJ505033,AJ505034,AJ505035,AJ505036,AJ505044,AL512353,AY644424,CH471059,DQ090843,AF119899,AF311284,AF311285,AK056138,AK125447,AK295704,AK314436,AY049028,BC031548,BC099703,BC099707,BC099712,NM_001017922,BC099713,BX507568,BX537371 AAH99712,NP_001017922,NP_061008,CAD43739,CAD43740,CAD43741,CAH72715,CAH72716,AAT66409,EAX07130,EAX07131,EAX07132,EAX07133,AAY88736,AAF69653,AAL08411,AAL08412,BAH12162,AAL11456,AAH99703,AAH99707,AAH99713,CAD97613,Q96PL5,Q9P148 Hs.439437 MGC118810|MGC118811|MGC118812|MGC118813|PRO2801|RD|SC OTTHUMP00000008917|Radin blood group (Rd)|Scianna blood group (Sc)|erythroblast membrane-associated protein|erythroid membrane-associated protein|hERMAP|radin blood group antigen|scianna blood group antigen protein-coding 1318095 ERMN ermin, ERM-like protein 737633,1580863 19165527,19034380,16421295,16051705,12477932,10574461,20468071,17207965 737633 57471 NM_020711,AC016732,CH471058,AA736604,AB033015,AI207881,AK295844,AK296477,AK296489,AV727436,BC026345,BI598234,DQ334271,NM_001009959 NP_001009959,NP_065762,AAY14889,EAX11448,BAA86503,BAG58653,BAG59118,BAG59126,AAH26345,ABC67251,Q8TAM6,ADQ31876 Hs.443894 JN|KIAA1189|ermin OTTHUMP00000204461|OTTHUMP00000204462|OTTHUMP00000204465|ermin|juxtanodin protein-coding 1348332 ERMP1 endoplasmic reticulum metallopeptidase 1 17267443,15489334,15146197,14702039,12477932,11347906 79956 NM_024896,AL136980,AL365360,CH471071,AB058718,AK026962,AK093217,AK127218,AK172831,AL834191,AW295384,BC031630,BC136771,BC136773,BC144404,CN390893 NP_079172,CAI95005,EAW58757,EAW58758,BAB47444,BAB15604,BAG52673,BAG54455,BAD18796,AAH31630,AAI36772,AAI36774,Q4VXJ7,Q6ZMD3,Q7Z2K6 Hs.591078 FXNA|KIAA1815|bA207C16.3 Felix-ina|OTTHUMP00000215016|OTTHUMP00000215017|aminopeptidase Fxna|bA207C16.3 (novel protein similar to predicted yeast, plant and worm proteins)|endoplasmic reticulum metallopeptidase 1 protein-coding 1605125 ERN1 endoplasmic reticulum to nucleus signaling 1 The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals. [provided by RefSeq] 19913121,20628086,9637683,12637535,19135427,18840095,18242182,18065414,17991856,17638880,17585877,16645094,16344560,16107700,15234121,15063770,14702039,12843613,12477932,12446770,12050113,11897784,11850408,11278723,11175748,10737800,10650002,10587643,18369366,20013084,20702765,20625543,20798350,20819778,16680093,20007910,20103773,20379614 2081 NM_001433,AC005803,AC025362,CH471109,AB209869,AF059198,AI791744,AI792619,AK055561,AK292403,AL698247,BC130405,BC130407,BF817483,BF846361,DB128514 NP_001424,EAW94213,EAW94214,BAD93106,AAC25991,BAF85092,AAI30406,AAI30408,O75460 Hs.133982,Hs.700027 FLJ30999|IRE1|IRE1P|IRE1a|MGC163277|MGC163279|hIRE1p ER to nucleus signalling 1|endoplasmic reticulum-to-nucleus signaling 1|inositol-requiring 1|inositol-requiring protein 1|ire1-alpha|protein kinase/endoribonuclease|serine/threonine-protein kinase/endoribonuclease IRE1 protein-coding 1346348 ERN2 endoplasmic reticulum to nucleus signaling 2 19913121,20628086,11175748,18242182,16973740,14702039,10619423,9755171,8889548,20379614 10595 NM_033266,AC008870,AC012317,CH471145,AB047079,AK131280,AK309313,AK310834,BU608100,EF560720,EF560739 NP_150296,EAW55802,BAB21297,BAD18455,ABQ59030,ABQ59049,Q76MJ5,AAI56239,AAI57114,ACT64383,ACT64384 Hs.592041 IRE1-BETA|IRE1b ER to nucleus signalling 2|IRE1 beta|IRE1, S. cerevisiae, homolog of|endoplasmic reticulum to nucleus signalling 2|endoplasmic reticulum-to-nucleus signaling 2|hIRE2p|inositol-requiring 1 beta|inositol-requiring protein 2|ire1-beta|serine/threonine-protein kinase/endoribonuclease IRE2 protein-coding 1317870 ERO1L ERO1-like (S. cerevisiae) 1580863 11707400,10671517,18971943,18833192,16677073,15592500,15489334,15475357,15161913,15136577,14517240,12975309,12752442,12477932,12403808,11847130,11707280,10970843,10818100,20095866,20562109,20130085,20802462,20834232,17207965,20186508,20657012,17170699,19766098,20379614 30001 NM_014584,AL133453,CH471078,AF081886,AF123887,AK292839,AY358463,BC008674,BC012941,CR596292,CR604913,CR614206,CR624423 NP_055399,EAW65646,EAW65647,AAF35260,AAF06104,BAF85528,AAQ88828,AAH08674,AAH12941,Q96HE7,ACT64506,ACT64507,ADQ32776 Hs.592304 ERO1-alpha|ERO1A ERO1-L|ERO1-L-alpha|ERO1-like protein alpha|endoplasmic oxidoreductin-1-like protein|oxidoreductin-1-L-alpha protein-coding 1344502 ERO1LB ERO1-like beta (S. cerevisiae) 10818100,18996753,18395550,16822866,16677073,16263699,16012172,15489334,15161913,14702039,12752442,12477932,11847130,11707400,19730683,20379614,17207965 56605 NM_019891,AL139162,AL450309,CH471098,AF252538,AK001865,AK293941,AK315351,BC032823,BC044573,BG723126,BX648202,CR596670,CR749523 NP_063944,CAI23525,CAI23526,CAI14419,CAI14420,EAW70045,EAW70046,AAF97547,BAG57318,BAG37747,AAH32823,AAH44573,Q5T1H5,Q5TAE8,Q86YB8,ADQ32505 Hs.558519,Hs.498160 DKFZp779C1042|DKFZp779I0141|FLJ11003 ERO1-L-beta|ERO1-like protein beta|endoplasmic oxidoreductin-1-like protein B|oxidoreductin-1-L-beta protein-coding 1605301 ERP27 endoplasmic reticulum protein 27 ERP27 is a noncatalytic member of the protein disulfide isomerase (PDI; see MIM 608012) family of endoplasmic reticulum (ER) proteins (Alanen et al., 2006 [PubMed 16940051]).[supplied by OMIM] 16940051,16713569,15489334,14702039,12975309,12477932,17207965 121506 NM_152321,AC007655,CH471094,AK056677,AY358536,BC030218,CD389092 NP_689534,EAW96335,BAB71251,AAQ88900,AAH30218,Q96DN0,ADQ31581 Hs.162143 C12orf46|FLJ32115|PDIA8 ER protein 27|endoplasmic reticulum protein 27 kDa|endoplasmic reticulum resident protein 27|protein disulfide isomerase family A, member 8 protein-coding 735473 ERP29 endoplasmic reticulum protein 29 This gene encodes a reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 19084538,19265690,19321666,19770839,9738895,18395818,17881435,17296603,17081065,17073718,17012915,16713569,16677078,15489334,12643545,12477932,12362325,12039039,11897809,11271497,9492298,8313870,1286669 10961 NM_006817,NM_001034025,AC073575,CH471054,AA412124,BC101493,BC101495,BE794579,CR541667,CR594614,CR600542,CR602432,CR602804,CR603906,CR604444,CR610095,CR611287,CR612656,CR617687,CR617833,CR623789,CR625433,X94910 NP_006808,NP_001029197,EAW97990,EAW97991,EAW97992,AAI01494,AAI01496,CAG46468,CAA64397,P30040 Hs.75841 C12orf8|ERp28|ERp31|PDI-DB|PDIA9 endoplasmic reticulum lumenal protein ERp28|endoplasmic reticulum resident protein 28|endoplasmic reticulum resident protein 29|endoplasmic reticulum resident protein 31|endoplasmic retuclum protein 29|protein disulfide isomerase family A, member 9 protein-coding 4144670 ERP29P1 endoplasmic reticulum lumenal protein 29 pseudogene 1 64227 AL109984,NG_000933 ERP28P pseudo 1319370 ERP44 endoplasmic reticulum protein 44 1580863 19913121,20628086,11847130,15308636,18552768,18508857,18178549,17805346,16677073,16303743,15652484,15489334,15164053,14517240,12975309,12477932,11921445,9628581,17353931,20562859,19615732 23071 NM_015051,AL137072,AL358937,AL360084,CH471105,CQ783816,AB011145,AJ344330,AK075024,AY359048,BC005374,BQ881761,BX648519,CR591222,CR600597,CR602500,CR603204,CR604222,CR605599,CR617616,CR621702 NP_055866,CAH72172,CAI95319,CAH70308,EAW58922,EAW58923,CAF86876,BAA25499,CAC87611,BAG52054,AAQ89407,AAH05374,Q9BS26 Hs.154023 KIAA0573|PDIA10|TXNDC4 ER protein 44|endoplasmic reticulum resident protein 44|endoplasmic reticulum resident protein 44 kDa|protein disulfide isomerase family A, member 10|thioredoxin domain containing 4 (endoplasmic reticulum)|thioredoxin domain-containing protein 4 protein-coding 1345502 ERPL1 endogenous retroviral pol gene-like sequence 1 (clone HLM2) 1580863 3701934,2408338,2037294 2082 M11348 AAA35813,Q14272 HLM2 protein-coding 1342913 ERPL2 endogenous retroviral pol gene-like sequence 2 3701934 2083 NG_003026,AC112175 HLM-25 pseudo 1604617 ERRFI1 ERBB receptor feedback inhibitor 1 ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM] 16344560,16007071,15856022,15696545,15556944,15489334,14702039,12833145,12477932,12387890,12384522,12226756,11843178,11003669,7641805,2780291,15778465,20936779,10749885,18077449,18046415,17599051,17351343,16819504,16710414,19040996,19439667,19674104,20044804,20351267,20421427 54206 NM_018948,AL034417,CH471130,AJ276373,AK027830,AK096149,AK315718,AL137274,BC012839,BC025337,DB033666 NP_061821,CAB52551,EAW71592,EAW71593,EAW71594,CAC20426,BAG53220,BAG38076,CAB70672,AAH25337,Q9UJM3,ABM83063,ABM86257 Hs.605445 GENE-33|MIG-6|MIG6|RALT ERBB receptor feedback inhibitor 1|mitogen-inducible gene 6 protein|receptor-associated late transducer protein-coding 1343527 ERV1 endogenous retroviral sequence 1 6843662,6181510,3568764 2085 K02919 protein-coding 1345054 ERV3 endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9) The human genome includes many retroelements including the human endogenous retroviruses (HERVs). ERV3, one of the most studied HERVs, is thought to have integrated 30 to 40 million years ago and is present in higher primates with the exception of gorillas. Taken together, the observation of genome conservation, the detection of transcript expression, and the presence of conserved ORFs is circumstantial evidence for a functional role. A functional role is also suggested by the observation that downregulation of ERV3 is reported in choriocarcinoma. [provided by RefSeq] 15994821,15081124,14557543,12970426,12853948,12083821,10894926,10692254,10427470,9525678,9458354,9209324,9209323,8592062,7716822,7645262,6505687,6495650,3840930,3356751,3346101,2884330,2115127,1783368,12477932,16344560 2086 NM_001007253,NG_006928,AC073210,K02271,M12140,AK074464,AK295189,BC063605,DA198800 NP_001007254,AAA88027,Q14264,BAG58193 Hs.250693 ERV-R|ERVR|FLJ23884|H-PLK|HERV-R|HERVR|envR ERV-3 envelope protein|ERV-R envelope protein|HERV-R envelope protein|HERV-R_7q21.2 provirus ancestral Env polyprotein protein-coding 1349195 ERVE1 endogenous retroviral sequence E, 1 11721880,11401426 85314 AB047241,AB047242 HERV-E1|HERVE1 protein-coding 1346512 ERVK2 endogenous retroviral sequence K(C4), 2 1580863 8281148 2087 O15309 X74612 1349231 ERVK3 endogenous retroviral sequence K(C4), 3 8281148 2088 X74613 1344265 ERVK4 endogenous retroviral sequence K (G1), 4 60359 AB047209 1348397 ERVK5 endogenous retroviral sequence K (G2), 5 60358 1352633 ERVK6 endogenous retroviral sequence K, 6 10080172 64006 NM_001007236,AF074086 1348523 ERVK7 endogenous retroviral sequence K, 7 (type 2) 10469592,11401426 449619 1346740 ERVWE1 endogenous retroviral family W, env(C7), member 1 Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The product of this gene, syncytin, is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 10693809,19327884,18391951,18351375,18077339,17762178,17453631,17209768,16871371,16820059,16760410,16176588,16004993,15888734,15827173,15507602,15452578,15269105,15254254,15109395,15033302,14757826,14613893,14557543,14520239,12970426,12853948,12757936,12724415,12664292,12620933,12477932,12397062,12175968,12050356,11990458,11854637,11531410,11375061,11238877,10826480,10737800,10708449,10580403,9882319,9835022,12676986,20546612,19321927,19407656,19561344,19903052 30816 NG_004112,NM_001130925,AB051004,AC007566,AF156963,AF520478,AF520480,AF520482,AF520484,AF520486,AF520488,AF520490,AF520492,AF520494,NM_014590,AF520496,AF520498,AF520500,AF520502,AF520504,AF520506,AF520508,AF520510,AF520512,AF520514,AF520516,AF520518,AF520520,AF520522,AF520524,AF520526,AF520528,AF520530,AF520532,AF520534,AF520536,AF520538,AF520540,AF520542,AF520544,AF520546,AF520548,BC137381,BG012022,BX365066,BX391741,AF520552,AF520554,AF520556,AF520558,AF520560,AF520562,AF520564,AY050299,AY050300,AY050301,AY101582,AY101583,AY101584,AY101585,CH236949,AF072503,AF072505,AF072506,AF072507,AF072508,AF208161,AF506835,AF513360,AF520550,GQ919057 NP_055405,NP_001124397,BAB47558,AAF74215,AAQ17561,AAQ17562,AAQ17563,AAQ17564,AAQ17565,AAQ17566,AAQ17567,AAQ17568,AAQ17569,AAQ17570,AAQ17571,AAQ17572,AAQ17573,AAQ17574,AAQ17575,AAQ17576,AAQ17577,AAQ17578,AAQ17579,AAQ17580,AAQ17581,AAQ17582,AAQ17583,AAQ17584,AAQ17585,AAQ17586,AAQ17587,AAQ17588,AAQ17589,AAQ17590,AAQ17591,AAQ17592,AAQ17593,AAQ17594,AAQ17595,AAQ17596,AAI37382,Q96L59,Q96L60,Q96L61,Q96TB5,Q9UQF0,Q9UQF1,AAQ17597,AAQ17598,AAQ17599,AAQ17600,AAQ17601,AAQ17602,AAQ17603,AAQ17604,AAL11493,AAL11494,AAL11495,AAM68161,AAM68162,AAM68163,AAM68164,AAD14545,AAD14546,AAD14547,AAD14548,AAF28334,AAM33413,AAM47599,ACX53625 ENV|ENVW|Env-W|HERV-7q|HERV-W|HERV-W-ENV|HERV7Q|HERVW|HERVWENV|env|syncytin HERV-7q envelope protein|HERV-W Env glycoprotein|HERV-W envelope protein|HERV-W_7q21.2 provirus ancestral Env polyprotein|HERV-W{7q21.1} provirus ancestral Env polyprotein|HERV-tryptophan envelope protein|OTTHUMP00000161914|env-W|envelope glycoprotein|envelope polyprotein gPr73|envelope protein|enverin|human endogenous retrovirus W envC7-1 envelope protein|syncytin A|syncytin-1 protein-coding 1343709 ERVWE2 endogenous retroviral family W, env(C7), member 2 139302 NG_006128,AL354685 pseudo 1354332 ESA4 esterase A4 2090 1348841 ESAM endothelial cell adhesion molecule 1580863 19240061,16344560,16303743,15489334,15340161,14702039,12975309,12477932,11906820,11847224,11279107,20153339,19759376 90952 AP000866,CH471065,CS051197,AF277292,AF361746,AK075396,AK091023,AK092429,AK301160,AK314710,AY189281,AY358382,BC016868,CR592626,CR592657,CR592972,CR597155,CR601846,CR603044,CR603971,CR604594,CR607273,CR609830,CR610927,CR615231,CR615986,CR618801,CR618946,CR623962,CR624894,CR625856,DA257581,NM_138961 EAW67598,CAI72094,AAF97236,AAK51065,BAC11594,BAG62750,AAO86725,AAQ88748,AAH16868,Q6Y2L1,Q96AP7,Q9NQU3,ABM82694,ABM85878,NP_620411 Hs.173840 W117m 2310008D05Rik|HUEL (C4orf1)-interacting protein|LP4791 protein|OTTHUMP00000200895|endothelial cell-selective adhesion molecule 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1344495 ESAT esterase activator 4508320 2096 1342621 ESB3 esterase B3 2097 1353486 ESCO1 establishment of cohesion 1 homolog 1 (S. cerevisiae) ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM] 19861517,20331966,19074885,18614053,15958495,15489334,14702039,14576321,12477932,11572484,11111111,19907496 114799 EF444976,NM_052911,AC011774,CH471088,AB067498,AK090579,AK096746,AL832041,AL834200,BC036943,BC089426,BG492713,BK001617 ACA05989,NP_443143,EAX01127,EAX01128,EAX01129,BAB67804,BAC03483,CAH10584,CAH10682,AAH36943,AAH89426,DAA02068,Q5FWF5 Hs.464733 A930014I12Rik|CTF|ECO1|EFO1|ESO1|KIAA1911|MGC105022 CTF7 homolog 1|ECO1 homolog 1|EFO1p|ESO1 homolog 1|N-acetyltransferase ESCO1|establishment factor-like protein 1|hEFO1 protein-coding 1350541 ESCO2 establishment of cohesion 1 homolog 2 (S. cerevisiae) This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq] 11111111,19074885,18501190,18411254,18186147,17081983,16775838,16380922,15958495,15821733,12477932,495649,19574259,19738907,20116366,20379614,19907496 157570 NM_001017420,NG_008117,AC104997,CH471080,AF306675,AF306676,AF306677,AF306678,AF306679,AK124215,AL832666,AY882862,BC017933,BC034641,BC040615 NP_001017420,EAW63538,BAG54021,AAX68677,AAH34641,Q49AP4,Q56NI9,AAI41419,AAI46563 Hs.99480 2410004I17Rik|EFO2|RBS ECO1 homolog 2|N-acetyltransferase ESCO2 protein-coding 1354034 ESD esterase D/formylglutathione hydrolase This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq] 1580863 3164702,19343046,19126594,18552983,15489334,15057823,14702039,12942785,12721789,12477932,11963573,11785295,11436564,10931946,7907313,7821789,7375916,6823558,3770744,3591015,3462728,3462714,3462698,3459695,3456572,1886375,1137344,20562859 2098 NM_001984,AF052509,AL136958,CH471075,AF112219,AK093643,AK098540,BC001169,BT007059,CR592358,CR600803,CR600886,CR609153,CR619552,D28416,M13450,AF085881,CR600585 NP_001975,AAC06298,CAI12225,CAI12226,CAI12228,EAX08767,EAX08768,EAX08769,AAC99788,AAH01169,AAP35708,BAA05782,AAA52408,P10768 Hs.432491 FGH|FLJ11763 OTTHUMP00000018375|OTTHUMP00000018376|S-formylglutathione hydrolase|esterase 10|esterase D/formylglutathione hydrolase 1643520 BW259_H protein-coding 1314468 ESF1 ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 17081983,16565220,15660422,15635413,15489334,15302935,14702039,12477932,11780052,12463424 51575 NM_016649,AL161659,CH471133,AF068285,AK000375,AK022369,AK022670,AK074299,BC020952,BC030513,BC039706,BC046107,BC062214,BC104663 NP_057733,CAC07199,EAX10313,AAF65504,BAA91123,BAB14023,BAB14167,AAH20952,AAH30513,AAH39706,AAH46107,AAH62214,AAI04664,Q05C10,Q3SWV1,Q6P6H6,Q8IWH6,Q9H501,AAI40352,AAI46543 Hs.369284 ABTAP|C20orf6|FLJ20368|HDCMC28P|bA526K24.1 ABT1-associated protein|ESF1 homolog|chromosome 20 open reading frame 6 protein-coding 737594 ESM1 endothelial cell-specific molecule 1 This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17207965,8702785,19458546,18680240,18614759,18592377,17362927,16899604,16764824,15489334,12778364,12477932,12011586,11866539,11544294,11025405,20102396,20515564,19785952,20237496,20379614 11082 NM_001135604,NM_007036,AC010436,AC034238,AJ401091,AJ401092,CH471123,AJ973643,AK300634,AK311817,BC011989,BM423977,X89426 ADQ32828,NP_001129076,NP_008967,CAB94771,EAW54896,EAW54897,CAJ13737,BAG62324,BAG34760,AAH11989,CAA61597,Q3V4E3,Q9NQ30 Hs.129944 endocan ESM-1|endothelial cell-specific molecule 1 protein-coding 1314788 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 604359) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM] 1580863 19758559,20508983,12672959,12194817,11875078,11509732,19351757,19345191,19342897,19008095,18728194,18616699,18003702,21041660,17974570,17102637,17604273,16258266,16177575,15880121,15342556,15302935,12477932,12297314,11747808,10411507,8724849,15989971 9700 NM_012291,AC021072,AC073611,CH471054,AI458447,AK128350,AK299423,AK316135,AW009863,AY455930,BC047603,BG328178,BP244662,D79987 NP_036423,EAW96681,EAW96682,BAG61403,BAH14506,AAR18247,BAA11482,Q14674,AAI72238,AAI72570 Hs.153479 ESP1|FLJ46492|KIAA0165 caspase-like protein ESPL1|extra spindle poles like 1|extra spindle poles like 1 (s. cerevisiae)|extra spindle poles-like 1 protein|separin protein-coding 731924 ESPN espin 734943 19102128,18973245,16710414,16569662,15930085,15498874,15286153,11230166,10975527,8889548,8799813,12598619,19773279,9763424 734943 83715 AL031848,AL158217,CH471130,AF134401,AL136880,AL834172,AY203958,NM_031475,BM713713,NG_015866 NP_113663,CAI19771,CAI19772,CAI19773,CAI22151,CAI22163,EAW71535,EAW71536,EAW71537,EAW71538,AAD24480,CAB66814,CAD38870,AAP34481,B1AK53,Q5JYL1,Q8ND66,AAI56376,AAI72457 Hs.147953 DFNB36|DKFZp434A196|DKFZp434G2126|LP2654 autosomal recessive deafness type 36 protein|ectoplasmic specialization protein|espin protein-coding 1602816 ESPNL espin-like 12975309,12477932 339768 AC016757,CH471063,AK124559,AK124612,AK128187,AY358157,BC042051,BC080639,NM_194312 EAW71140,BAC85884,BAC85900,BAG54646,AAQ88524,AAH42051,AAH80639,Q6UXY7,Q6ZVH7,NP_919288 Hs.127724 FLJ42568|MGC99829 espin-like protein protein-coding 1606919 ESPNP espin pseudogene 15286153 284729 AK294247,NR_026567,AL021920,AL035288 BAG57543,CAA22892 Hs.548239 FLJ60011|RP1-163M9.1|dJ1182A14.1 pseudo 736559 ESR1 estrogen receptor 1 This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in several transcript variants, which differ in their 5' UTRs and use different promoters. [provided by RefSeq] 1580335,1580337,1580338,1626508,2314003,2314005,2314012,2306775,2290017,2290041,2290020,2290022,2290023,2290024,2290043,2290042,2290019,2314014,2314020,1331525,1358612,1601096,1580863,4892064 20338046,20550710,20421786,20514458,20581768,19433448,19433264,19429457,19429434,19424606,19422801,19420105,19419938,19415745,19414598,19411060,19406238,19403568,19399944,19386276,19386104,19383985,19383788,19383343,19383337,19382890,19375130,19351845,19347708,19336370,19331827,19328202,19321582,19321454,19320640,19319135,19318036,19309393,19302287,19299445,19298602,19287996,19287951,19284296,19276281,19261198,19255718,19247692,19233358,19219433,19219042,19208313,19208263,19200973,19199249,19198856,19194457,19188451,19175383,19172223,19159686,19158089,19157583,19152063,19147702,19142184,19126777,19124506,19122208,19117054,19112174,19107851,19106221,19095746,19094228,19093296,19087310,19086053,19084502,19082882,19080622,19079262,19074826,19064572,19061285,19060449,19039327,19034514,19032828,19032364,19032032,19031960,19031816,19030709,19028706,19027010,19021634,19018086,19012097,19011999,19008156,19001520,18997820,18992263,18991569,18990228,18984578,18980828,18980759,18958632,18955141,18952763,18951949,18950845,18949413,18949048,18942332,18941930,18925325,18854778,18853184,18852215,18850387,18846948,18844082,18843190,18839613,18838536,18837889,18837888,18835831,18825402,18825311,18820009,18818283,18816632,18798271,18794456,18790736,18767927,18765668,18762230,18758908,18755890,18753331,18752050,18728018,18727987,18722876,18720524,18720455,18719354,18715613,18708376,18708366,18706253,18690166,18688042,18687423,18681789,18680103,18678289,18676680,18660489,18652667,18644889,18644836,18636124,18632615,18631401,18629629,18627768,18617186,18615623,18600402,18599548,18597742,18593928,18593923,18593897,18593825,18588516,18582450,18579858,18577416,18569637,18569528,18568888,18565642,18563714,18560894,18559568,18558727,18550772,18550720,18548852,18543253,18534028,18533032,18519947,18518979,18511131,18510611,18508999,18508261,18505767,18499756,18498351,18492705,18485221,18483761,18483465,18483281,18483257,18483178,18471979,18459544,18452179,18451880,18451179,18451095,18450951,18450649,18449864,18445777,18445666,18445128,18441008,18433299,18424506,18424448,18421025,18414007,18408366,18407895,18406438,18403716,18391223,18390216,18388150,18385916,18379196,18375409,18372406,18367190,18365014,18363044,18360040,18359774,18350156,18350145,18342444,18339713,18316616,18316615,18310301,18309176,18307035,18305958,18301357,18297304,18294052,18288931,18285546,18271972,18264135,16504171,16502042,16500359,16497729,16492926,16492615,16489075,16484614,16483936,16478760,16477637,16477374,16469747,16453284,16430179,16427018,16417649,16417078,16406987,16396937,16388018,16365013,16362385,16361951,16344560,16332659,16326832,16324147,16322330,16322326,16317584,16293641,16292600,16286534,16284392,16280269,16280033,16273733,16271083,16269961,16260521,16252695,16244490,16243557,16242874,16238543,16226051,16219765,16216908,16216907,16215870,16213843,16210384,18261753,18252198,18247370,18243128,18239068,18229450,18216219,18210333,18204896,18202578,18200028,18197009,18195227,18189290,18184269,18178192,18174157,18166184,18165403,18165171,18165170,18164902,18162533,18157729,18097104,18096994,18089911,18089703,18070128,18062975,18053221,18048499,18042273,18037997,18037365,18029348,18025262,18006911,17992477,17991426,17971628,17962916,17960587,17953702,17951536,17951080,17948189,17939379,17932744,17932106,17924141,17921385,17916182,17914104,17911387,17909265,17908967,17904846,17903300,17896124,17895504,17891599,17889406,17885486,17884941,17854418,17852416,17825481,17761946,17728669,17717078,16210018,16203927,16202920,16199553,16179580,16179380,16176503,16169423,16168121,16168103,16160748,16159931,16154319,16153823,16151677,16150902,16144952,16139450,16138832,16133690,16123086,16119004,16118406,16117875,16099331,16098857,16098017,16091743,16087863,16087727,16086289,16076840,16061840,16055089,16051668,16046054,16042580,16037132,16014638,16009131,16005459,15999471,15966503,15965230,15964799,15964790,15961505,15961417,15960894,15947004,15940291,15940264,15934440,15923424,15919818,15899960,15886208,15878968,15870697,15870696,15862952,15862951,15862818,15856463,15842934,15837795,15831512,15827868,15824731,15817658,15807179,15802376,15802375,15800680,15798095,15784714,15781005,15772083,15763593,15755860,15749482,15746193,15744038,15734595,15723135,15713534,15709176,15705965,15698546,15694360,15693887,15692074,15674350,15668497,15661863,15657064,15654614,15654505,15651230,15647972,15645536,15642950,15642162,15641807,15637147,15625066,15616899,15615701,15613410,15609101,15609040,15607534,15604249,15595626,15592589,15591788,15581976,15579774,15579769,12839940,12837697,12824724,12821935,12817755,12815477,12810552,12781038,12775708,12774124,12770739,12757654,12750288,12740031,12736255,12733715,12727990,12727987,12718576,12712467,12711000,12710997,12691862,12682286,12667452,12650698,12646062,12642782,12627470,12612073,12612060,12605096,12597128,12594813,12594000,12588759,12842887,17713466,17706611,17706202,17704057,17686882,17666587,17666584,17656679,17652530,17646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1580335,1580337,1580338,1626508,2314003,2314005,2314012,2306775,2290017,2290041,2290020,2290022,2290023,2290024,2290043,2290042,2290019,2314014,2314020,1331525,1358612,1601096,4892064 2099 AB588629,AB588630,FJ716812,NM_001122741,NM_001122740,NM_000125,NG_008493,AF123500,AF326912,AL035695,AL049821,AL078582,AL356311,NM_001122742,AL590993,AY425004,CH471051,X62462,AB307713,AF120105,AF258449,AF258450,AF258451,AK293019,AK304600,AK304833,AK309580,AK311064,AK313644,AY750962,BC128573,BC128574,BE084831,BX640939,DA329077,DB285906,EU921455,EU982838,EU982839,EU982840,FJ011556,FJ011557,FJ011558,FJ011559,FJ011560,FJ147552,FJ147553,FJ147554,FJ147555,FJ147556,FJ147557,FJ147558,FJ169500,FJ169501,FJ169502,FJ169503,FJ169504,FJ668387,FJ712305,FJ712306,FJ712307,FJ716811,FJ716813,FJ716814,FJ716815,GQ366704,M12674,M69297,U47678,U68067,U68068,X03635,X73067,X74439,Z75126,CS405710,GQ411250,GQ411258,GQ438791 BAJ41265,BAJ41266,NP_001116214,NP_001116213,NP_001116212,NP_000116,AAD52984,AAG42501,CAI22123,CAI42285,CAI21011,CAI21012,CAI14237,AAQ91815,EAW47740,EAW47741,CAA44322,BAH02304,AAD23565,AAG41358,AAG41359,AAG41360,BAF85708,BAG65386,BAG65577,AAW69860,AAI28574,AAI28575,ACH41916,ACH73261,ACH73262,ACH73263,ACI06210,ACI06211,ACI06212,ACI06213,ACI06214,ACI01724,ACI01725,ACI01726,ACI01727,ACI01728,ACI01729,ACI01730,ACI04255,ACI04256,ACI04257,ACI04258,ACI04259,ACN41854,ACN66633,ACN66634,ACN66635,ACN89822,CAE45969,ACN89823,ACN89824,ACN89825,ACN89826,ACU29456,AAA52399,AAA58462,AAB00115,AAC51874,AAC51875,CAA27284,CAD97416,CAA51528,CAA99436,A0A4R1,P03372,Q14267,Q14268,Q16405,Q5C8S5,Q6MZQ9,Q9H1Z6,Q9H2M1,Q9H2M2,Q9UBT1,Q9UE35,Q9Y2W8,CAL40514,ACV41785,ACV41793,ACV88149 Hs.208124 DKFZp686N23123|ER|ESR|ESRA|Era|NR3A1 ER-alpha|estradiol receptor|estrogen receptor|estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform|estrogen receptor alpha delta 4 +49 isoform|estrogen receptor alpha delta 4*,5,6,7*/654 isoform|nuclear receptor subfamily 3 group A member 1 1643367,1643404,1643502,2289445 BW323_H,BMD3_H,BW265_H,BW415_H protein-coding 69213 ESR2 estrogen receptor 2 (ER beta) This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq] 1581011,1581012,1581013,1581014,1581015,1581016,1581017,1580704,1626507,735007,1626508,1626506,2290017,2290023,2290024,734949,734951,734950,1582269,1580863,735008,4892064 19913121,20306477,20519370,20538124,20586553,20599614,20615892,20628086,20634197,20634891,20655613,20673868,20097268,20542061,20596625,20827267,18166184,18165403,18164902,18157729,18093886,18070128,18053221,18048499,18039858,18026833,18007998,18006911,17964137,17951536,17945165,17941906,17935138,17932344,17924141,17916182,17904846,17895504,17889406,17884941,17713466,17706202,17704057,17702854,17680534,17646097,17640362,17638897,17634528,17625110,17617929,17609204,17604135,17599809,17597290,17585029,17579196,17556531,17548071,17540666,17537412,17520659,17512111,17507630,17507624,17503469,17478088,17474167,17456575,17443129,17428314,17415682,17405842,17368651,17365134,17350752,17336962,17333268,17332369,17287066,15489334,15389627,15383631,15381922,15374639,15368362,15355905,15354857,15345745,15330195,15314175,15291741,15280642,15272917,15258723,15254780,15231873,15219649,15217907,15208676,15208259,15198955,15193490,15181079,15171727,15171712,15170658,15167447,15167446,15161636,15155785,15147889,15146197,15108352,15082146,15073120,15070964,15070949,15068501,15060164,15047147,15033914,15026080,15001646,14973391,14761887,14759258,14745018,14742696,14739282,14736707,14729654,14716825,15492781,14715875,14710360,14699439,14691461,14676828,14674142,14634838,14633679,14576822,14555521,14528452,14519529,14500565,12969589,12947046,12904255,12899921,12895004,12894229,12873984,12865336,12861133,12846425,12839940,12815477,12774124,12740031,12727987,12710997,12710996,12702147,12691862,12682916,12650698,12597128,12566449,12554752,12554660,12552233,12547836,12547192,12519886,12497580,12477932,12477486,12477483,12475719,12466272,12456792,12414901,12242035,12207170,12200415,12168823,12151079,12145209,12137804,12119550,12112024,12111450,12095943,12073050,12021200,12021179,11992621,11986316,11981030,11971969,11959119,11953755,11923465,11918216,11887032,11875103,11867769,11826769,11803451,11781694,11775002,11773444,11773069,11739747,11720251,11704680,11682624,11596023,11579095,11555647,11530282,11397855,11389589,11344243,11279242,11266503,11231990,11180758,11117529,11113208,11053406,11013076,15602573,15604093,17633471,18394649,18990386,19170196,19200973,19217090,19423554,19434490,19509112,19556604,19574173,19593135,19625176,19639330,19654868,19669093,19676041,19680825,19692168,19700868,19706809,19715484,19720911,19728929,19738412,19739075,19739677,19754929,19758455,19776291,19780039,19787222,19800101,19837602,19878085,19884274,19897598,19898422,19927160,19933466,19938352,19938958,19940362,19944560,19948975,19950602,19952760,19953095,19959825,20059631,20074560,20079471,20080630,20080857,20148360,20172949,20173016,20200813,20215396,20237496,20304699,20305046,20305341,20346360,20349239,20351714,20353944,20375995,20378615,20379614,20390341,20399928,20452482,20468064,20480654,20508921,20548329,19657752,20339947,20363876,20660297,20696772,20680712,20716560,20734064,20850223,20857063,20927313,20961965,21080949,19882362,11181953,12039952,14764652,9671811,8769313,10749889,19111408,19106194,19093296,19082882,19064572,19060449,19034156,19032828,19032364,19032032,19018086,19012097,19001520,18992263,18981223,18980759,18962445,18955141,18952763,18939943,18937077,18931615,18925325,18846948,18844113,18825402,18825311,18794456,18771580,18767927,18765668,18753331,18752050,18727987,18704709,18698041,18678289,18676680,18669459,18644836,18636124,18627768,18620727,18617186,18607069,18599548,18597742,18579858,18577698,18569528,18560445,18544915,18510611,18508999,18487282,18483761,18483178,18459544,18451176,18445666,18421469,18421025,18375409,18317771,18305346,18304720,18297304,18288931,18268123,18234277,18216219,19639498,19630952,19604497,19598235,19574343,19555469,19524139,19493328,19491296,19487281,19480740,19478391,19473078,19453261,19438492,19429457,19429453,19429434,19386104,19382890,19337134,19331143,19321582,19309393,19303878,19298602,19277704,19254455,19217708,19198856,19194457,19189968,19185861,19148895,19141699,19132986,19127255,19124506,19117011,10964723,10908561,10809226,10770204,10720062,10706629,10681591,10681512,10681503,10667568,10648597,10601611,10598587,10579320,10554010,10352100,9892018,9773978,9685228,9636657,9506768,9501254,9473491,9443393,9398750,9329394,9325313,9267036,8221895,8197458,15899520,17962381,11032808,11250900,11158331,10903152,12738788,17203178,17184825,17160687,17135255,17132221,17110088,17083364,17065579,17062671,17046193,17011556,16951146,16949392,16949390,16949384,16939403,16938840,16921512,16883534,16880783,16873370,16859590,16855153,16846491,16809442,16808847,16793950,16791593,16777502,16766435,16760287,16735942,16723304,16720731,16700038,16691199,16648749,16648639,16645038,16633737,16622736,16608893,16604479,16554735,16553027,16551880,16549430,16522905,16500359,16365013,16332659,16317584,16293641,16292491,16280269,16269961,16261413,16230778,16226111,16216906,16213843,16210384,16210018,16153823,16125346,16123086,16118406,16118344,16115604,16099331,16098017,16083630,16061639,16046054,15998774,15976006,15947116,15944651,15941852,15894829,15862952,15862951,15862947,15862945,15821116,15802376,15784714,15784253,15781005,15780944,15723135,15698546,15694360,15692074,15662019,15661863,15656884,15635591,15615701,15613410,15609040,15607534,15604249,15592589,15569979,15545229,15544935,15541640,15536519,15536156,15525597,15525276,15517897,15496419,18070427,20404318,15024130,18195227,17241382,20421786,20581768,20372779,20664970,20604969,19744542,20173645,20956532,20462399 1581011,1581012,1581013,1581014,1581015,1581016,1581017,1580704,1626507,735007,1626508,1626506,2290017,2290023,2290024,734949,734951,734950,1582269,735008,4892064 2100 NM_001040276,NM_001040275,NM_001437,NG_011535,AF014796,AF191544,AF215937,AL161756,AL355094,DQ777076,DQ777077,DQ838582,DQ838583,X99101,CN366005,CH471061,AY785359,AB006589,AB006590,AB209620,AF047463,AF051427,AF051428,AF060555,AF061054,AF061055,AF074598,AF074599,AF124790,AK292370,AY438022,BC024181,BX247957,AY640407 NP_001035366,NP_001035365,NP_001428,AAG29940,ABG88022,ABH09189,ABH09190,CAA67555,Q0PTK2,Q59F41,Q7LCB3,Q86U33,Q92731,AAV31779,EAW80845,EAW80846,EAW80847,EAW80848,EAW80849,EAW80850,EAW80851,EAW80852,EAW80853,EAW80854,BAA31966,BAA24953,BAD92857,AAC03786,AAC05985,AAC05751,AAC15234,AAC39784,AAC39785,AAC25602,AAC25603,AAD32580,BAF85059,AAH24181,CAD62297 Hs.525392,Hs.660607 ER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2 estrogen receptor beta|estrogen receptor beta 4|nuclear receptor subfamily 3 group A member 2 protein-coding 1606552 ESRP1 epithelial splicing regulatory protein 1 20711167,19285943,19177006,17145811,15489334,14702039,12477932,11329013,18029348,19829082 54845 NM_017697,NM_001122825,NM_001034915,NM_001122826,NM_001122827,AC108860,AP005660,CH471060,AI990751,AK000178,AK001805,BC019932,BC035406,BC052574,BC067098,BC099916,BC112043,BG182742,BG212336,BX641160,BX647570,CR614895,BC101621 NP_060167,NP_001116297,NP_001030087,NP_001116298,NP_001116299,EAW91720,EAW91721,BAA90992,AAH19932,AAH67098,AAH99916,AAI12044,Q6NXG1 Hs.487471 FLJ20171|RBM35A|RMB35A RNA binding motif protein 35A|RNA-binding motif protein 35A|RNA-binding protein 35A|epithelial splicing regulatory protein 1 protein-coding 1605047 ESRP2 epithelial splicing regulatory protein 2 19285943,19829082,15498874,15489334,14702039,12477932,7566098,20711167 80004 NM_024939,AC020978,CH471092,AF289577,AK025571,AK025901,BC030146,BC052309,BC069241,BG721782,BU934976,BU943912,CR592167 NP_079215,EAW83214,EAW83215,EAW83216,AAL55761,BAB15173,BAB15275,AAH30146,Q9H6T0 Hs.436585,Hs.592053 FLJ21918|FLJ22248|RBM35B RNA binding motif protein 35A|RNA binding motif protein 35B|RNA-binding motif protein 35B|RNA-binding protein 35B|epithelial splicing regulatory protein 2 protein-coding 730826 ESRRA estrogen-related receptor alpha The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq] 1580863,1625636,1625637 19913121,20628086,11984006,9286700,19491275,19453261,19429439,19276159,19171140,19138740,19064572,19061896,18974123,18778951,18697814,18673300,18660489,18509053,18331830,18328649,18174157,17631492,17556356,17509876,17418099,17418098,17294452,17053040,16755280,16681769,16260778,16150865,15883633,15821111,15598686,15337744,15318176,15302935,15231747,15231680,14978033,14610283,12579315,12560563,12522104,12477932,12397057,11986328,11574675,11437591,11165056,9824153,9344655,9271417,9058380,8621448,12181319,15604093,16024613,18418639,19264843,19389810,19546226,19608650,19622763,20067526,20497091,20961995,8224847,3267207,10598588,19822186,20400511,20561910,20668045,20351196,16439465,21102463,20211987,17157980 1625636,1625637 2101 NM_004451,AP001453,CH471076,DQ514553,BC007915,BC011528,BC033701,BC063795,BC073956,BC092470,BC093720,BC093722,CR624219,L38487,X51416 NP_004442,EAW74246,EAW74250,ABF47104,AAH07915,AAH11528,AAH33701,AAH63795,AAH73956,AAH92470,AAH93720,AAH93722,AAB17015,CAA35778,P11474,Q569H8,Q6GMQ8,Q6P3W9,Q8N4S8,Q96F89,Q96I02,ABZ92000 Hs.110849 ERR1|ERRa|ERRalpha|ESRL1|NR3B1 ERR-alpha|estrogen receptor-like 1|estrogen related receptor, alpha|nuclear receptor subfamily 3 group B member 1|steroid hormone receptor ERR1 protein-coding 1345028 ESRRAP1 estrogen-related receptor alpha pseudogene 1 18065488,9344655,3267207 144847 NG_001009,AL359457 ESRRAP|bA76K19.2 pseudo 1626576 ESRRAP2 estrogen-related receptor alpha pseudogene 2 18065488,9344655,3267207 144832 NG_007350,AL158032,U85258 ESTRRA pseudo 1342767 ESRRB estrogen-related receptor beta This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq] 1580863 20634891,18957414,18775884,18509053,18179891,18071305,17920186,16332939,15598686,12654265,12529709,12508121,12477932,10598588,10072763,9398750,9344655,8889548,3267207,19755138,20080650,20379614 2103 NM_004452,NG_012278,AC008050,AC016543,CH471061,AB307714,AY451389,AY451390,BC131517,BM662795,DR007211,X51417 NP_004443,AAG17472,AAG29619,EAW81258,BAH02305,AAS15571,AAS15572,AAI31518,CAA35779,O95718,Q5F0P7,Q5F0P8,Q9HCB2,AAI48478 Hs.435845 DFNB35|ERR2|ERRb|ESRL2|NR3B2 ERR beta-2|ERR-beta|ERRbeta-2|OTTHUMP00000218238|OTTHUMP00000218239|OTTHUMP00000218240|estrogen receptor-like 2|nuclear receptor ERRB2|nuclear receptor subfamily 3 group B member 2|orphan nuclear receptor|steroid hormone receptor ERR2 protein-coding 1349366 ESRRG estrogen-related receptor gamma 20395239,15598686,15489334,14702039,14651967,12715898,12477932,12470660,12180985,12107410,11864604,10707956,10072763,10048485,9676434,8889549,8889548,12181319,14963109,15604093,19304792,19690166,19821770,20379614,17157980,10428842,19415745,19171140,18582436,18510611,18509053,18328649,18005256,17846126,17761695,17706602,16990259,16710414,16681769,15821111,19019082,19822186 2104 NM_206594,NM_001438,NM_001134285,NR_024099,AC096634,AC096635,AL391216,AL445650,AL512626,AL512650,AL513312,AL603752,AY528719,CH471100,AA167816,AB020639,AB307715,AB362218,NM_206595,AF058291,AF094518,AF117255,AK001811,AK131193,AK290945,AK291028,AK291647,AK298851,AY388456,AY388457,AY388458,AY388459,AY388460,AY388461,BC008218,BC064700,BM723962,BU752915,BX486063,BX647076,BX649009,CA397450,CR749497,CF594270 NP_996318,NP_996317,NP_001429,NP_001127757,CAH70618,CAH70619,CAH71594,CAH71595,AAS00098,EAW93335,BAA74855,BAH02306,BAH36764,AAC39899,AAC99410,AAD48370,BAG54746,BAF83634,BAF83717,BAF84336,BAH12885,AAQ93376,AAQ93377,AAQ93378,AAQ93379,AAQ93380,AAQ93381,AAH08218,AAH64700,CAH18320,P62508,ABZ92001,ACE87648,ACE86957 Hs.444225 DKFZp781L1617|ERR3|ERRgamma|FLJ16023|KIAA0832|NR3B3 ERR gamma-2|OTTHUMP00000035075|OTTHUMP00000035092|OTTHUMP00000035095|OTTHUMP00000035115|OTTHUMP00000035116|OTTHUMP00000035126|OTTHUMP00000216805|OTTHUMP00000216806|OTTHUMP00000216807|OTTHUMP00000216808|OTTHUMP00000216812|estrogen receptor-related protein 3|estrogen-related receptor gamma|nuclear receptor subfamily 3 group B member 3 protein-coding 1605534 ESSPL epidermis-specific serine protease-like protein 12838346,12477932 345062 NM_183375,AC104819,CH471056,BC121109,BC121110,BN000134 NP_899231,EAX04985,AAI21110,AAI21111,CAD67963,Q7RTY5 Hs.651266 ESSPL epidermis-specific serine protease-like protein|serine protease 48 protein-coding 1350335 ESX1 ESX homeobox 1 1580863 17242862,16613891,15601583,15489334,15235584,14702039,12477932,11374906,20356899,15897875,17588961 80712 NM_153448,AL049631,CH471120,AK097704,AY114148,BC042633,BC053599,NG_016393 NP_703149,EAX02755,AAM62141,AAH42633,AAH53599,Q8N693,CAQ08095 Hs.223782 ESX1L|ESXR1 ESX1-related protein|extraembryonic, spermatogenesis, homeobox 1 homolog|extraembryonic, spermatogenesis, homeobox 1-like|homeobox protein ESX1 protein-coding 733690 ESYT1 extended synaptotagmin-like protein 1 8125298,17672888,15592455,15489334,14702039,12477932,10350628,9872452,9373149,11972353,16344560 23344 NM_015292,AC034102,CH471054,AB018290,AK022790,AK025463,AK025878,AK074368,AK128730,AK225035,AK290337,AL050134,BC004998,BC013880,CR609232,CR621596,DQ993200,AJ346011,DB100366,NM_001184796 NP_056107,EAW96890,EAW96891,EAW96892,EAW96893,BAA34467,BAG51117,BAB15139,BAB15268,BAG54718,BAF83026,CAB43284,AAH04998,ABJ97705,Q9BSJ8,ACE87711,ACE87024,NP_001171725 Hs.632729 FAM62A|KIAA0747|MBC2 extended synaptotagmin-1|family with sequence similarity 62 (C2 domain containing), member A|membrane-bound C2 domain-containing protein protein-coding 1606520 ESYT2 extended synaptotagmin-like protein 2 17672888,16396496,15489334,15302935,14702039,12690205,12477932,12168954,11543631,10574462,20562859 57488 DQ993201,NM_020728,AC019084,CH236954,CH471149,AB033054,AJ303365,AK001181,AK026710,AK056953,AK124091,AK126214,AK308824,AL833233,AY368150,BC013957 ABJ97706,A0FGR8,AAI52807,AAH13957,NP_065779,EAL23931,EAX04590,EAX04591,BAA86542,CAC33887,BAA91539,BAC85769,BAC86489,CAH10642,AAR89381 Hs.490795 CHR2SYT|E-Syt2|FAM62B|KIAA1228 OTTHUMP00000200003|chr2 synaptotagmin|extended synaptotagmin-2|family with sequence similarity 62 (C2 domain containing) member B|family with sequence similarity 62 (C2 domain containing), member B protein-coding 1605327 ESYT3 extended synaptotagmin-like protein 3 17672888,16344560,15238157,12477932,11543631,10737800 83850 NM_031913,AC022497,AJ303366,AJ697972,AK125080,AK289530,AW513592,AW792835,BC037292,BQ435892,DA726011,DQ993202 NP_114119,CAC33888,BAF82219,AAH37292,ABJ97707,A0FGR9 Hs.477711 CHR3SYT|E-Syt3|FAM62C OTTHUMP00000216900|chr3 synaptotagmin|extended synaptotagmin-3|family with sequence similarity 62 (C2 domain containing), member C protein-coding 1604009 ETAA1 Ewing tumor-associated antigen 1 18029348,16003559,12477932 54465 NM_019002,AC023668,CH471053,AJ242682,AK025155,AK026300,AW978869,BC033075,BC040001 NP_061875,AAX93100,EAW99888,CAB76378,AAH33075,AAH40001,Q9NY74 Hs.353022 ETAA16|FLJ22647 ETAA16|ewing's tumor-associated antigen 1|ewing's tumor-associated antigen 16 protein-coding 1313906 ETF1 eukaryotic translation termination factor 1 Termination of protein biosynthesis and release of the nascent polypeptide chain are signaled by the presence of an in-frame stop codon at the aminoacyl site of the ribosome. The process of translation termination is universal and is mediated by protein release factors (RFs) and GTP. A class 1 RF recognizes the stop codon and promotes the hydrolysis of the ester bond linking the polypeptide chain with the peptidyl site tRNA, a reaction catalyzed at the peptidyl transferase center of the ribosome. Class 2 RFs, which are not codon specific and do not recognize codons, stimulate class 1 RF activity and confer GTP dependency upon the process. In prokaryotes, both class 1 RFs, RF1 and RF2, recognize UAA; however, UAG and UGA are decoded specifically by RF1 and RF2, respectively. In eukaryotes, eRF1, or ETF1, the functional counterpart of RF1 and RF2, functions as an omnipotent RF, decoding all 3 stop codons (Frolova et al., 1994 [PubMed 7990965]).[supplied by OMIM] 7990965,9620853,9712840,12867083,19265422,19140327,16797113,16452507,16282590,16189514,15716307,15635413,15489334,12909007,12665801,12477932,12426392,12356746,11790298,11779511,11358506,10773672,10702684,10676813,10413110,9928949,7759135,1546371,1537561,18056425,20688868,15326224,18539146,19615732,20418372,9003791 2107 AC011385,AC113403,AF095901,CH471062,AK302364,AK309875,AK312510,AL553004,BC014269,BC088358,BT007374,CR599885,CR600366,CR606413,CR613596,CR622518,DC297662,M75715,U90176,X80916,X81625,NM_004730 CAA57281,P62495,Q96CG1,ABM81632,ABM84816,NP_004721,AAD43966,EAW62130,EAW62131,EAW62132,EAW62133,EAW62134,BAH13684,BAG35411,AAH14269,AAH88358,AAP36038,AAA36665,AAB49726 Hs.483494 D5S1995|ERF|ERF1|MGC111066|RF1|SUP45L1|TB3-1 OTTHUMP00000224067|OTTHUMP00000224068|eukaryotic peptide chain release factor subunit 1|eukaryotic release factor 1|polypeptide chain release factor 1|protein Cl1|sup45 (yeast omnipotent suppressor 45) homolog-like 1 protein-coding 1351224 ETF1P1 eukaryotic translation termination factor 1 pseudogene 1 10727083,10413110,1546371 6824 NG_001028,AF055066,AL669914,AL671859,AL845439,BX088647,BX927229,CR388205,CR759763,CR759960 HCGVII|SUP45L2 pseudo 1345726 ETF1P2 eukaryotic translation termination factor 1 pseudogene 2 10413110,1546371 6825 NG_001198,AC005996,AF112357 SUP45L3 pseudo 1343202 ETF1P3 eukaryotic translation termination factor 1 pseudogene 3 10413110,1546371 100132121 NG_009869,AF110131,AL450487 SUP45L4 pseudo 1342675 ETFA electron-transfer-flavoprotein, alpha polypeptide ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,2317589 12815589,12477932,11756429,10356313,8962055,3053288,1882842,1430199,10423253,18029348,9334218,20674745,20877624,8617498,3170610,19208393,17689999,17081983,16510302,16344560,15489334,20562859 2317589 2108 NM_000126,NG_007077,AC027243,AC091100,AF436657,AJ224002,CH471136,AA557337,AK292979,AK300044,BC015526,BC029995,BC034156,NM_001127716,BG261160,BT009796,BU176141,CR592726,CR593989,CR608419,CR626374,DA838974,J04058,BC095457 NP_001121188,NP_000117,AAN03712,CAA11802,EAW99221,EAW99222,BAF85668,BAG61855,AAH15526,AAH95457,AAP88798,AAA52406,P13804,Q53XN3 Hs.39925 EMA|GA2|MADD alpha-ETF|electron transfer flavoprotein alpha-subunit|electron transfer flavoprotein subunit alpha, mitochondrial|electron transfer flavoprotein, alpha polypeptide|glutaric aciduria II protein-coding 1347524 ETFB electron-transfer-flavoprotein, beta polypeptide This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863,2317589 7912128,8504797,8617498,19208393,19088074,16510302,15975918,15498874,15489334,14702039,12477932,10356313,8962055,8188225,1677763,20674745,18029348,20877624,12815589 2317589 2109 NM_001014763,NG_007115,AC008750,AF436663,CH471135,X76067,AF370381,AK055285,AK128845,AK291881,AL833205,BC093961,BC093963,BG281641,BG399783,CR456827,CR613524,X71129,NM_001985,HB887243,HC944652 NP_001014763,AAN03713,EAW72004,CAB37832,AAQ15217,BAG51494,BAF84570,AAH93961,AAH93963,CAG33108,CAA50441,P38117,NP_001976,CBF67773,CBU92647 Hs.348531 FP585|MADD beta-ETF|electron transfer flavoprotein beta subunit|electron transfer flavoprotein beta-subunit|electron transfer flavoprotein subunit beta|electron transfer flavoprotein, beta polypeptide|electron-transferring-flavoprotein, beta polypeptide protein-coding 1354191 ETFDH electron-transferring-flavoprotein dehydrogenase Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaricacidemia. [provided by RefSeq] 1580863,2317589 14640977,17050691,18037314,19249206,19265687,19758981,20037589,20370797,8306995,8617498,19208393,17584774,17412732,16344560,15489334,12815589,12477932,12359134,12049629,20138856,20877624 2317589 2110 AAB24227 NM_004453,NG_007078,AC107219,AF449444,CH471056,AK293737,AK304838,AK314803,BC011890,BX538129,CR594853,CR595253,CR597977,DA319656,EU093082,EU093083,S69232 NP_004444,AAN03724,EAX04854,BAG57161,BAG65581,BAG37331,AAH11890,CAD98030,ABU55401,ABU55402,AAC60628,AAB24227,Q16134,Q547S8 Hs.155729 ETFQO|MADD ETF dehydrogenase|ETF-QO|ETF-ubiquinone oxidoreductase|OTTHUMP00000220838|electron transfer flavoprotein ubiquinone oxidoreductase|electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial protein-coding 1322274 ETHE1 ethylmalonic encephalopathy 1 This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy. 1580863 18029348,20877624,19136963,18593870,16929096,16381901,16183799,15489336,15489334,15057824,14732903,12477932,12398897,11256614,11076863,16169070,17353187 23474 NM_014297,NG_008141,AC018758,CH471126,AI879202,AK309880,AK315346,BC008250,D83198 NP_055112,AAG09063,EAW57195,EAW57196,EAW57197,BAG37744,AAH08250,BAA34595,O95571,CAL37682 Hs.7486 HSCO|YF13H12 ethylmalonic encephalopathy protein 1|hepatoma subtracted clone one protein|protein ETHE1, mitochondrial protein-coding 1348511 ETM1 essential tremor 1 9288103 2111 1352412 ETM2 essential tremor 2 9399207 2112 1317846 ETNK1 ethanolamine kinase 1 This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 19913121,20628086,11044454,15489334,12477932,11912161,20379614 55500 NM_018638,NM_001039481,AC087241,CH471094,AB074182,AF207600,AK027113,AK074425,AL110180,AL117563,AL137750,BC006111,BC037324,BC045794,BC066907,BT007084,CR749601 NP_061108,NP_001034570,EAW96478,EAW96479,EAW96480,BAE45742,AAF71220,CAH56371,AAH06111,AAH66907,AAP35747,Q659C5,Q86U68,Q9HBU6 Hs.29464 EKI|EKI 1|EKI1|Nbla10396 ethanolamine kinase 1|putative protein product of Nbla10396 protein-coding 1313254 ETNK2 ethanolamine kinase 2 The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. [provided by RefSeq] 737633,1580863 21177773,18953568,16861741,16189514,15161093,14702039,12477932,11044454,19536175 737633 55224 NM_018208,AL592146,CH471067,AB073608,AK001623,AK293426,AK302145,AK316493,BC010082,DB454429 NP_060678,CAI16598,CAI16600,CAI16601,CAI16602,CAI16603,EAW91501,EAW91502,EAW91503,EAW91504,BAD38645,BAA91793,BAH11503,BAH13637,BAH14864,AAH10082,Q5SXX4,Q5SXX7,Q5SXX8,Q9NVF9 Hs.497469 EKI2|FLJ10761|HMFT1716|RP11-74C13.2 EKI 2|OTTHUMP00000034314|ethanolamine kinase 2|ethanolamine kinase-like protein protein-coding 737031 ETS1 v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) ETS transcriptions factors, such as ETS1, regulate numerous genes and are involved in stem cell development, cell senescence and death, and tumorigenesis. The conserved ETS domain within these proteins is a winged helix-turn-helix DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T of target genes (Dwyer et al., 2007 [PubMed 17986575]).[supplied by OMIM] 2303822,2313849,2313847,2313850,2313901,1580863 20479932,17671502,17661355,17656364,17456046,17397260,17321669,17287278,17213822,17105191,16894529,16887814,16829517,16786167,16722933,16684505,16586544,16569638,16455618,16294212,16278291,16263717,16234432,16192649,16045329,15996661,15940256,15848191,15788656,15699632,15693893,15592518,15592455,15578430,15574387,15572696,15563472,15531915,15469934,15389378,15342556,15302318,15199062,15173033,15123671,15001984,14734780,14704859,14702039,14586398,14557674,12967474,12949792,12932931,12920221,12850290,12843180,12743594,12632078,12632071,12477932,12475968,12466970,12464608,12377649,12377648,12221090,12073053,12048211,12034715,11971908,11948414,11836635,11830328,11590145,11279115,10942770,10918595,10815800,10377039,10022910,9794229,9566892,9528793,9501572,9334186,9333025,9094628,9032233,8557686,8521493,8231246,7753825,3285299,3060801,2997781,2847145,2612216,1614856,1592264,1522903,18851979,10207087,9681824,11313879,10212281,10698492,11909962,15247905,2187191,8620536,19499154,19465391,19427971,19377509,19336585,19225563,19154409,19116245,19091791,19022222,18955504,18948081,18851945,18720385,18676374,18625704,18566588,18538735,18381358,18292499,18172009,18020712,17986575,17977828,17845581,17785952,17721441,18537194,18692240,19205872,19616560,19657377,19787252,19836356,19838193,19935876,19942620,20001963,20019798,20097731,20169177,20190752,20516000,9266972,20819682,20021863,20671229,16861237,20645833,20378371 2303822,2313849,2313847,2313850,2313901 2113 NM_001143820,NM_005238,NM_001162422,AP001995,AP003397,CH471065,M11921,AK001630,AK291840,AK301405,AL832693,AY943926,BC017314,BG035366,BM468663,BP365215,BT019452,BT019453,BX640634,CA407336,CR542254,J04101,S67063,X14798 NP_001137292,NP_005229,NP_001155894,EAW67709,EAW67710,EAW67711,EAW67712,AAA52409,BAF84529,BAG62940,AAY19514,AAH17314,AAV38259,AAV38260,CAE45783,CAG47050,AAA52410,AAB28747,CAA32903,CAA32904,P14921,Q5U0M2,Q6FG54,Q6N087,Q96AC5 Hs.369438 ETS-1|EWSR2|FLJ10768 Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1|ets protein|p54|protein C-ets-1|v-ets avian erythroblastosis virus E2 oncogene homolog 1|v-ets avian erythroblastosis virus E26 oncogene homolog 1 protein-coding 1352353 ETS2 v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) ETS transcriptions factors, such as ETS2, regulate numerous genes and are involved in stem cell development, cell senescence and death, and tumorigenesis. The conserved ETS domain within these proteins is a winged helix-turn-helix DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T of target genes (Dwyer et al., 2007 [PubMed 17986575]).[supplied by OMIM] 1580863 20554528,2186967,9681824,19318269,19407855,19939245,20145133,20379614,20671229,14702039,14507917,12894593,12743594,12646185,12637547,12532432,12511603,12477932,12174931,12095911,11752456,11689681,11313931,11279115,11027273,10942770,10918595,10830953,10815800,10377039,10358095,10212281,9334186,3285299,3021321,2997781,2847145,15489334,15231748,2250910,18242510,18598946,8596630,11909962,16780588,19453261,18942749,18848526,18801734,18586674,18094719,18059336,17986575,17975022,17921261,17703088,16953216,16263717,15900611,15806151,15788656,15572696,21079520 2114 NM_005239,AF017257,AL163278,AP001040,AP001041,AP001732,CH471079,X55181,AA452482,AK000535,AK096841,AK315563,AV661268,BC017040,BC042954,BT006838,CR608636,J04102,M11922 NP_005230,AAB94057,CAB90468,BAA95514,EAX09673,EAX09674,EAX09675,EAX09676,CAA38966,BAG37939,AAH17040,AAH42954,AAP35484,AAA52412,AAA52411,P15036,ABM84763,ABW03617 Hs.644231 ETS2IT1 OTTHUMP00000115973|OTTHUMP00000115976|oncogene ETS-2|protein C-ets-2|v-ets avian erythroblastosis virus E2 oncogene homolog 2|v-ets avian erythroblastosis virus E26 oncogene homolog 2 protein-coding 1323762 ETV1 ets variant 1 1580863 7700648,19223501,18726892,18628953,18594527,18474293,17671502,17634427,17632455,17505060,17390040,17032499,16344560,15561718,15489334,15146197,14747462,14702039,12947087,12917345,12853948,12690205,12569367,12477932,12213813,11551945,10597226,9681824,9110174,8889548,8619474,7651741,1340465,19465903,19718948,19789348,20104229,20160028,21036922,20927104 2115 AC004909,AC004857,AF109632,CH236948,CH471073,AB209202,AF070641,AK055368,AK293802,AK294572,AK294755,AK299693,AK309190,AK311089,AK311134,AK311194,AK311707,AK312863,AK316007,BC042950,BC045776,BC098403,BC106762,BC106763,BF346325,BU737178,CN396908,CN396911,CR627389,DA114165,DB093597,DB099964,DC308837,EF632110,U17163,X87175,NM_004956,NM_001163147,NM_001163148,NM_001163149,NM_001163150,NM_001163151,NM_001163152,HM245385,HM245386 NP_001156624,AAC62435,AAD29877,AAD29878,EAL24294,EAW93654,EAW93655,EAW93656,EAW93657,EAW93658,EAW93659,EAW93660,EAW93661,EAW93662,BAD92439,BAH11600,BAH11815,BAH11870,BAH13104,BAG35715,BAH14378,AAH98403,AAI06763,AAI06764,CAH10484,AAA79844,CAA60642,P50549,Q59GA7,Q6AI30,ABZ92002,NP_004947,NP_001156619,NP_001156620,NP_001156621,NP_001156622,NP_001156623 Hs.22634 DKFZp781L0674|ER81|MGC104699|MGC120533|MGC120534 ETS translocation variant 1|OTTHUMP00000201615|OTTHUMP00000201616|OTTHUMP00000201617|OTTHUMP00000201618|OTTHUMP00000201619|OTTHUMP00000201621|ets variant gene 1|ets-related protein 81 protein-coding 1351650 ETV2 ets variant 2 1580863 12477932,12087183,1340465,18270322,16344560,15057824,14702039 2116 BC107123,BC040908,BC107124,BC140746,BC144448,DB046527,NM_014209,AC002115,AA885210,AF000671,AK097439 BAG53472,AAI07124,AAI07125,AAI40747,AAI44449,O00321,Q3KNT2,Q3KNT3,AAI60032,NP_055024,AAB57630,AAD00861 Hs.194061 ER71|ETSRP71|MGC129834|MGC129835 ETS translocation variant 2|OTTHUMP00000197798|OTTHUMP00000197799|ets variant gene 2|ets-related protein 71 protein-coding 1348851 ETV3 ets variant 3 1580863 18029348,18951430,18025162,17525531,16710414,15489334,14754893,12477932,12007404,8020980 2117 NM_001145312,NM_005240,AL157713,CH471121,AF218540,AK304789,AK316274,BC022868,L16464 NP_001138784,NP_005231,CAC36082,CAH70131,EAW52888,EAW52889,AAK56846,BAG65539,BAH14645,AAH22868,AAA60949,P41162,ABM84081,ABM87757 Hs.105636 FLJ79173|METS|PE-1|PE1|bA110J1.4 ETS domain transcriptional repressor PE1|ETS translocation variant 3|ets variant gene 3, ETS family transcriptional repressor|mitogenic Ets transcriptional suppressor protein-coding 1603450 ETV3L ets variant 3-like 18951430 440695 NM_001004341,AL157713,CH471121,AK131392,AA723297 NP_001004341,EAW52891,BAD18543,Q6ZN32 Hs.127138 FLJ16478 ETS translocation variant 3-like protein|ets variant gene 3-like protein-coding 1315190 ETV4 ets variant 4 1580863 19483189,19845529,18029348,19307308,19129951,18794152,18687701,18644862,18593949,18511876,18510939,18474293,18451133,18425363,17938207,17585876,17475671,17467662,17060941,16912160,16786139,16752078,16738319,16678123,16652376,16585160,16297865,16158187,15800927,15756447,15695237,15629152,15611127,15489334,15461591,15387369,15342556,14976201,14718574,12779089,12684413,12477932,10949935,10564827,8605035,8530053,8441666,7987831,7796532,7774926 2118 NM_001079675,NM_001986,AC068675,AF095886,AF095887,AF095888,AF095889,AF095890,CH471178,AK290429,AK298872,AK299019,AK312934,AK315961,BC007242,BC016623,BM013535,BP268896,BU166857,D12765,DB493072,DQ396625,DQ396626,EU693078,EU693079,U18018 NP_001073143,NP_001977,AAD09186,EAW51673,EAW51674,EAW51675,BAF83118,BAH12890,BAH12929,BAH14332,AAH07242,AAH16623,BAA02234,AAA95991,P43268,ABM82991,ABM86185 Hs.434059 E1A-F|E1AF|PEA3|PEAS3 E1A enhancer binding protein|ETS translocation variant 4|EWS protein/E1A enhancer binding protein chimera|adenovirus E1A enhancer-binding protein|ets variant gene 4 (E1A enhancer binding protein, E1AF)|ets variant gene 4 (E1A enhancer-binding protein, E1AF)|polyomavirus enhancer activator 3 homolog|polyomavirus enhancer activator-3 protein-coding 1320007 ETV5 ets variant 5 1580863 20571754,20634891,8152800,19079260,18172298,17638886,17489097,16615918,16613858,15857832,15652352,15620692,15534105,15489334,12477932,12387735,12036888,11840567,11509567,19443906,19692490,19746409,19812171,19851340,20215397,20520848,20935630,8661127,7559555,8798622,8941378,20647002,20970160,21102462,20712903,20724581,20816195 2119 NM_004454,AC108671,AC112649,AC131156,CH471052,X96375,X96381,AK301878,BC007333,BT006713,CR456767,X76184 NP_004445,EAW78200,CAA65246,BAH13573,AAH07333,AAP35359,CAG33048,CAA53778,P41161,ABM81600,ABM84781 Hs.43697 ERM ETS translocation variant 5|ets-related molecule|ets-related protein ERM protein-coding 1345405 ETV6 ets variant 6 This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq] 1580863,1581019 19913121,20628086,15054045,14726384,14668342,12893822,12737628,12626745,12588862,12527908,12526921,12505259,12477932,12450792,12435397,12393285,12210491,12203785,12127395,12091359,12080468,11861295,11861293,11731410,11483520,11078523,10702799,10502316,10477709,10377438,9651344,9462753,9360930,17579016,18476590,19427022,19665068,19710703,19896186,19956635,20164181,20379614,20412772,20589932,21157892,12590135,7761424,18029348,19475667,19345670,19179469,19144660,19129484,19100516,19024110,19011601,18940475,18767146,18635414,18617057,18462362,18462252,18445843,18426905,18391951,18305557,18281529,18212042,18202291,18172310,17980166,17972957,17956600,17889709,17854676,17690704,17673463,17503961,17366548,17344859,17285576,17095626,17077140,17015828,16914570,16898416,16737910,16673018,16572202,16386788,16307024,16278392,16105979,16081688,15970674,15958056,15887243,15806161,15761153,15729383,15704129,15489334,15328172,15229229,15179033,15142881,8889549,8889548,8743990,8653712,8168137,7805037,7780150,18928518,20844136,2687768,9695962,15143164,15104290,9171997,7731705,20197715,20881960,20835243,20658612,20400516,20190817,20804916,20807887,21029724,21156245 1581019 2120 BC061911,BF510432,BG741145,BM829795,BQ003277,BQ641702,BU681757,CB243807,CB962155,CB996610,T79261,U11732,Z35761,NG_011443,AC007450,AC084358,AC084430,AM181353,CH471094,U45432,U61375,U63312,U63313,U81830,U81834,AA205762,AA452592,AI660081,AK289441,AV722693,BC020284,BC043399,NM_001987 AAH43399,AAA19786,CAA84815,P41212,Q1XE77,Q9UBM2,Q9UME7,ABZ92003,NP_001978,CAJ57643,EAW96240,AAB17016,AAC50690,AAB17134,AAB17135,AAB39862,AAB39882,BAF82130 Hs.504765 TEL|TEL/ABL ETS translocation variant 6|ETS-related protein Tel1|TEL1 oncogene|ets variant gene 6 (TEL oncogene)|transcription factor ETV6 protein-coding 1353246 ETV7 ets variant 7 The ETS (E26 transformation-specific) family of transcription factors, of which ETV7 is a member, is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well (Potter et al., 2000 [PubMed 10828014]).[supplied by OMIM] 1580863 10828014,15743832,15489334,14702039,14574404,12588862,12477932,11108721,11032031,9373149,8125298,20379614,18029348,20211142 51513 NM_016135,CH471081,Z84484,AF116508,AF116509,AF116510,AF147782,AF175387,AF218235,AF218365,AF218366,AJ276205,AK026144,AK122796,AK223424,AK301011,BC035853,CR622547,AK303829 NP_057219,EAX03885,EAX03886,EAX03887,EAX03888,EAX03889,EAX03890,CAI21615,CAI21616,AAD43250,AAD43251,AAD43252,AAD33989,AAF25007,AAF28350,AAF44742,AAF44743,CAC17012,BAG53734,BAD97144,BAG62628,BAG64776,AAH35853,Q53F65,Q9Y603,ABZ92372 Hs.272398 TEL-2|TEL2|TELB ETS translocation variant 7|ETS-related protein Tel2|Ets transcription factor TEL-2b|TEL2 oncogene|ets variant gene 7 (TEL2 oncogene)|tel-related Ets factor|transcription factor ETV7|transcription factor Tel-2|transcription factor ets protein-coding 1342513 EVC Ellis van Creveld syndrome This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq] 1302823,1580863 19913121,20628086,20634891,19810119,20087401,20379614,19744229,10700184,19251731,19115052,18947413,18454448,17024374,15492864,15368503,12477932,10802674,8889548,8661097,12571802 1302823 2121 NM_153717,NG_008843,AC105915,AC116613,AF216184,AF216185,AF239742,AK025394,BC085608,BM670090 NP_714928,AAY40958,AAY41049,AAF37216,AAF37217,AAF44682,AAH85608,P57679,Q4W5A3,Q4W5F2,Q5U3C2 Hs.646899,Hs.670028 DWF-1|EVC1|EVCL|MGC105107 ellis-van Creveld syndrome protein protein-coding 1321308 EVC2 Ellis van Creveld syndrome 2 1302823,1600212 19251731,18454448,16404586,12571802,12477932,12468274,12136126,11076863,15231748,17024374,17547743,19810119,20087401,20184732 1302823,1600212 132884 NM_147127,AC114738,AC116613,CH471131,AB083067,AY152402,AY152403,AY185210,BC143836,AW137166,BG755658,NG_015821,NM_001166136 NP_667338,AAY41034,AAY41048,EAW82412,EAW82413,EAW82414,BAC06590,AAN86577,AAN86578,AAO22066,Q4W5A4,Q4W5B1,Q86UK5,AAI11456,NP_001159608 Hs.87306 LBN limbin protein-coding 1350066 EVI2A ecotropic viral integration site 2A 1580863 16344560,1639383,1719426,1899288,1903357,2114220,8889548,2117566,17632510,15489334,12477932,2134734,2117565 2123 AC004526,AC135724,AY796305,CF135330,DA364537,L05367,NM_014210,NM_001003927,AC134669,CH471147,M55267,AK295311,AK312348,AV724051,BC035572,BG699778,BG700097,BI597493,CR590095 NP_055025,NP_001003927,EAW80276,AAA52413,BAG58290,BAG35269,AAH35572,P22794,ABM81735,ABM84890 Hs.591198 EVDA|EVI-2A|EVI2 OTTHUMP00000214770|OTTHUMP00000214772|ecotropic viral integration site 2A protein homolog|protein EVI2A protein-coding 1347396 EVI2B ecotropic viral integration site 2B 1580863 18029348,1903357,17632510,16344560,12477932,2117566,2114220,1899288,1719426,1639383 2124 NM_006495,AC134669,CH471147,L05367,M60829,M60830,AA251185,AK297087,AK312822,AW576194,BC005926,CR616854,CR621796,DA677356 NP_006486,EAW80277,EAW80278,AAA35816,BAH12493,BAG35679,AAH05926,P34910,Q9BRW1,ABM84046,ABM87395 Hs.5509 D17S376|EVDB EVI-2B|ecotropic viral integration site 2B protein homolog|protein EVI2B protein-coding 1350871 EVI5 ecotropic viral integration site 5 1580863 16439210,9618176,19506219,19077034,18401352,17229837,16764853,16710414,16565220,16033705,15146197,19525955,19834503,19865102,20008790,20087403 7813 NM_005665,AC104332,AC104456,AL133332,AL354890,AB209513,AB449875,AF008915,CN334472 NP_005656,CAC19437,CAI21914,BAD92750,BAH16618,AAC16031,O60447,Q59FE7,AAI41545,AAI56794 Hs.726322 NB4S EVI-5|dJ846D11.1 (ecotropic viral integration site 5)|ecotropic viral integration site 5 protein homolog|neuroblastoma stage 4S gene protein protein-coding 1347720 EVI5L ecotropic viral integration site 5-like 19077034,16923123,16189514,15489334,14702039,12477932,19060904,20205591 115704 NM_145245,NM_001159944,AC008812,AC010336,CH471139,AB449874,AK091609,BC014111,BI755965,BI913004,CR613564 NP_660288,NP_001153416,EAW68973,EAW68974,EAW68975,BAH16617,AAH14111,Q96CN4 Hs.26870 EVI5-like protein|ecotropic viral integration site 5-like protein protein-coding 1605079 EVL Enah/Vasp-like 17207965,10993894,19329439,18357390,18264139,17998398,16806233,16376568,16336193,15939738,15656790,15489334,15469846,15469845,15302935,14702039,14506234,12477932,12029088,10945997,10931946,10747096,9268706,9110174,8619474,20639531,10892742,16055720,19725871,20379614,16341674 51466 NM_016337,AL133523,AL157912,CH471061,AF052504,AF087843,AF112209,AF131766,AK092467,AK289720,AK295919,AK301379,AL133642,BC023997,BC032358,BC049376,BQ083568,CR602298,CR605129,CR606351,CR612426,CR613658,CR613692,CR621654,CR624531,CR625255 ADQ31798,NP_057421,EAW81684,EAW81685,EAW81686,EAW81687,AAF21709,AAP97156,AAF17197,AAD20040,BAF82409,BAH12221,BAG62920,CAB63763,AAH23997,AAH32358,AAH49376,Q499Z9,Q9UI08,ABM84269 Hs.125867 RNB6 ena/VASP-like protein|ena/vasodilator-stimulated phosphoprotein-like protein-coding 1314586 EVPL envoplakin 1580863 10908733,8707850,15756445,15342556,15033990,12477932,18820940,20936779,12366696,11062259,10747979,9651377,9412476,9115270,8999895,8938451,12432088,10409435 2125 NM_001988,AC040980,CH471099,U72849,AK290333,BC126103,BC126105,BC143813,BC143814,BP353801,U53786 NP_001979,EAW89356,EAW89357,AAD00186,BAF83022,AAI26104,AAI26106,AAI43815,AAC64662,A0AUV5,Q92817 Hs.500635 EVPK 210 kDa cornified envelope precursor protein|210 kDa paraneoplastic pemphigus antigen|envoplakin|p210 protein-coding 2303435 EVPLL envoplakin-like 12477932 645027 NM_001145127,AL353997,AK298286,BC026998,BC036791 NP_001138599,BAG60546 Hs.462400 envoplakin-like protein-coding 1345834 EVR1 exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome) 1598965 2126 1348376 EVR2 exudative vitreoretinopathy 2 (X-linked) 7558002 2127 1344299 EVX1 even-skipped homeobox 1 This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq] 1580863 20445134,1684419,12853948,12690205,9847074,7499236 2128 AC004080,CH236948,CH471073,U68781,U68782,AK298822,AK299188,AK314155,X60655,NM_001989 NP_001980,EAL24216,EAW93892,AAB07598,BAG60952,BAG61232,CAA43062,P49640,AAI52724 Hs.369879 EVX-1|eve, even-skipped homeo box homolog 1|eve, even-skipped homeo box homolog 1 (drosophila)|eve, even-skipped homeobox homolog 1|even-skipped homeo box 1 (homolog of Drosophila)|homeobox even-skipped homolog protein 1 protein-coding 1348415 EVX2 even-skipped homeobox 2 1580863 15815621,11778160,11181995,1675198,10440834,11060466,12136098,7581388,7896287 344191 NM_001080458,AC009336,CH471058,M59982,M59983,AJ329487,AJ329526,NG_012893 NP_001073927,EAX11096,AAA52414,Q03828 Hs.452341 EVX-2 eve, even-skipped homeo box homolog 2|eve, even-skipped homeo box homolog 2 (drosophila)|even-skipped homeo box 2 (homolog of Drosophila eve)|homeobox even-skipped homolog protein 2 protein-coding 1316345 EWSR1 Ewing sarcoma breakpoint region 1 This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq] 1598915,1580863 8084618,19417137,19305498,19289832,19247449,19212622,19189974,19170206,19144156,19133275,19074838,18974141,18838963,18648544,18620564,18587326,18580682,18453593,18414662,18413612,18383210,18271016,18223324,18212050,17724745,17647282,17638877,17163154,17114343,16965792,16713569,16344560,16327442,16189514,15919668,15917470,15884099,15782174,15635413,15489334,15461802,15324660,15282325,15231748,15044653,15021903,14702039,14534527,12915128,12527906,12527902,12477932,12459554,12432261,12359745,12183411,12049818,11992546,11960373,11422378,11278906,10949935,10838070,10827180,10767297,10322114,9704926,9660765,9488465,9373149,9341188,9201297,8975699,8954779,8921363,8889548,8604338,8570200,8552387,8522311,8401579,8307570,8125298,7542907,1522903,1127890,934118,9010223,17353931,17220478,18320585,18347058,19404404,19492315,19559696,19561568,19673543,19718047,19775727,19837262,19859563,19879242,20019092,20051954,20103643,20308669,20308673,20382729,20442286,20203285,20211855,20691659,20660338,20211142,20933505 1598915 2130 NM_005243,NM_013986,NM_001163285,NM_001163286,NM_001163287,AB016435,AC000026,AC002059,AL031186,CH471095,CQ867364,X72990,X98745,Y07848,Y08806,AF327066,AF524261,AI564543,AK026270,AK056309,AK056681,AK096787,AK127624,AK225096,AK225102,AL833489,AW205707,BC000527,BC004817,BC011048,BC072442,BE741903,BM981230,BX648769,CR593724,CR594868,CR602561,CR604639,CR604952,CR608375,CR608666,CR610888,CR617490,CR618632,CR619493,CR625247,CX786322,DA013931,DA051447,DB051511,DB443651,EU327511,X66899,CR456490,NG_023240 NP_005234,NP_053733,NP_001156757,NP_001156758,NP_001156759,BAA31990,CAI18001,CAQ10932,CAQ10933,CAQ10934,CAQ10935,CAQ10936,CAQ10937,CAQ10938,CAQ10939,CAQ10940,EAW59780,EAW59781,EAW59782,EAW59783,EAW59784,EAW59785,EAW59786,EAW59787,CAH33891,CAA51489,CAA69177,CAA70044,AAK11227,AAQ08876,BAB71145,BAB71252,AAH00527,AAH04817,AAH11048,AAH72442,CAG30376,ABY40719,CAA47350,Q01844,Q71E78,Q96FE8,Q96MN4,Q96MX4,Q9BWA2,Q9BZD1,CAK54518,CAK54817 Hs.374477 EWS|bK984G1.4 EWS oncogene|Ewings sarcoma EWS-Fli1 (type 1) oncogene|OTTHUMP00000199147|RNA-binding protein EWS|ewing sarcoma breakpoint region 1 protein protein-coding 1605271 EXD1 exonuclease 3'-5' domain containing 1 12477932,20379614 161829 HC007148,NM_152596,AC012652,AC022408,CH471125,AK123414,AK292524,AK302864,BC030628 CBH19379,NP_689809,EAW92473,BAC85610,BAF85213,BAH13825,AAH30628,Q8NHP7,ABM83411,ABM86622 Hs.307999 EXDL1|MGC33637 exonuclease 3'-5' domain-containing protein 1|exonuclease 3'-5' domain-like 1|exonuclease 3'-5' domain-like-containing protein 1 protein-coding 1322357 EXD2 exonuclease 3'-5' domain containing 2 18029348,15489334,14702039,12477932,16344560 55218 AL359317,CH471061,AK001600,AK056025,AK292563,AK295601,AL834434,BC001962,BX161412,BX647767,CR936728,CR936729,NM_018199,AU143711,DB087350,DC369956,NM_001193360,NM_001193361,NM_001193362,NM_001193363,NR_034164,NR_034165 NP_060669,EAW80984,EAW80985,BAA91781,BAG51607,BAF85252,BAG58488,CAD39094,AAH01962,CAD61888,CAH10568,Q6AWB6,Q86TX3,Q9NVH0,ACE87287,ACE86606,NP_001180289,NP_001180290,NP_001180291,NP_001180292 Hs.533878 C14orf114|DKFZp781A0133|DKFZp781L15100|EXDL2|FLJ10738 OTTHUMP00000205813|OTTHUMP00000205816|OTTHUMP00000205817|OTTHUMP00000205818|chromosome 14 open reading frame 114|exonuclease 3'-5' domain-containing protein 2|exonuclease 3'-5' domain-like 2|exonuclease 3'-5' domain-like-containing protein 2 protein-coding 1606281 EXD3 exonuclease 3'-5' domain containing 3 19060904,16344560,16189514,14702039,12477932 54932 NM_017820,BX322799,CH471090,AB061798,AK000440,AK055004,AK091390,AK094438,AL536907,BC033079,BC037355,BC039252,BC065002,BC069205,BC110879,BC131749,BU947354,DA071548,DA328221 CAX12959,NP_060290,EAW88381,EAW88382,EAW88383,EAW88384,BAC10986,BAA91167,BAB70838,BAC04356,AAH37355,AAH39252,AAH65002,AAI10880,Q8N9H8,Q9NX53 Hs.495553 FLJ20433|FLJ30442|MGC131904|MGC74981|mut-7 exonuclease 3'-5' domain-containing protein 3|probable exonuclease mut-7 homolog|probable exonuclease mut-7 homolog, isoform 5 protein-coding 1349081 EXLD1 extracellular link domain containing, 1 26283 1319820 EXO1 exonuclease 1 This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq] 2306716 11842105,10608837,2414623,9788596,10856833,11427529,11429708,12414623,14676842,15225546,15886194,10364235,14636568,11809771,9685493,19515603,19331228,19074885,19064572,19015241,19012493,18971343,18940926,18676680,18559551,18270339,18205772,18079015,18048416,17855454,17426132,16710414,16195237,16143102,15550454,15489334,15328369,15302935,14756672,14623461,12704184,12517792,12477932,11375940,9823303,8889548,15146197,16344560,17148452,19170196,19625176,19626040,19692168,19698732,19846925,20019063,20126648,20337148,20379614,20453000,20854105,17656264,20643645,20429728,20447876 2306716 9156 AF042282,AF060479,AF084974,AF091740,AK291291,AL080139,BC007491,BM465399,BM983504,CD644038,CR594301,CR612395,CR616899,CA430743,CN348533,DA661516,NM_006027,NM_003686,AC004783,AF091742,AF091754,AF549168,AL365366,CH471098,NM_130398 AAC32259,AAC33874,AAD13754,AAC63043,BAF83980,CAB45733,AAH07491,Q5T397,Q5T399,ABM83958,ABW03555,NP_569082,NP_006018,NP_003677,AAC32424,AAC69879,AAC69880,AAN39382,CAI15655,CAI15656,CAI15657,CAI15658,EAW70103,EAW70104,EAW70105,EAW70106,Q9UQ84 Hs.498248 HEX1|hExoI exonuclease 1|exonuclease I|hExo1|rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 protein-coding 1312667 EXOC1 exocyst complex component 1 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. 11406615,18541705,15489334,15037366,14702039,14525976,12687004,12665801,12477932,11493706,11042152,9655500,9405631,19889084,19889837 55763 NM_018261,NM_178237,AC110611,CH471057,AF208854,AK001755,AK023461,AK027047,AK027413,AL833208,AW589689,NM_001024924,BC019237,BC020650,BC094751,BI760313,BM468054 NP_001020095,NP_060731,NP_839955,EAX05473,EAX05474,EAX05475,EAX05476,AAF64268,BAA91886,BAB55095,AAH19237,AAH20650,AAH94751,Q9NV70 Hs.269665 BM-102|FLJ10893|SEC3|SEC3L1|SEC3P SEC3-like 1|exocyst complex component 1|exocyst complex component Sec3 protein-coding 1348584 EXOC2 exocyst complex component 2 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. [provided by RefSeq] 1580863 20570966,20616560,12459492,18697830,18483556,17952075,17018283,15489334,15302935,15037366,14702039,14574404,14525976,12839989,12687004,12624092,12575951,12477932,11744922,11493706,9655500,9405631,15920473,14980502,19166349,19340012,20145037,20379614 55770 NM_018303,AL031770,AL357054,AL512308,CH471087,AJ414403,AJ420556,AK001888,AK056564,AK302941,AK314628,AL833209,AL833213,BC016918,BC080542 NP_060773,CAI19790,CAJ65833,CAH70772,EAW55061,EAW55062,CAC92092,BAA91963,BAG51749,BAG64099,BAG37193,CAI46189,AAH16918,AAH80542,Q2MDF5,Q96KP1 Hs.484412 FLJ11026|SEC5|SEC5L1|Sec5p SEC5-like 1|exocyst complex component 2|exocyst complex component Sec5 protein-coding 1344149 EXOC3 exocyst complex component 3 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq] 737633,1580863 15489334,15037366,14525976,12954101,12693554,12687004,12477932,11865051,11406615,9655500,9405631,9110174,8982167,8619474,12738960,20736409 737633 11336 AI628051,AK074086,AK131103,AK315749,AL545132,AL589499,AL832434,BC001511,BC019304,BC034427,BC064569,CR625116,NM_007277,AC010442,CH471235,AA487875,AF055006,GU727644 BAB84912,BAC85153,BAG38103,CAH10613,AAH01511,AAH19304,AAH64569,O60645,Q69YP2,Q6P2E8,Q6ZNJ2,NP_009208,EAW51000,EAW51001,EAW51002,EAW51003,AAC09358,ADU87645 Hs.481464 SEC6|SEC6L1|Sec6p OTTHUMP00000221555|SEC6-like 1|Sec 6 homolog|exocyst complex component 3|exocyst complex component Sec6|sec6-like 1 (s. cerevisiae) protein-coding 1605832 EXOC3L exocyst complex component 3-like 16344560,14702039,12477932,18480549 283849 NM_178516,AC040160,AC074143,CH471092,AI796350,AK092858,AK092906,AK292004,AK300915,BC034287,DA945486 NP_848611,EAW83092,EAW83093,BAC03991,BAC04000,BAF84693,BAH13376,Q86VI1,Q8NAC4,AAI67852 Hs.647356 FLJ35539|FLJ35587|MGC88052 exocyst complex component 3-like protein|protein Jiangli protein-coding 1605316 EXOC3L2 exocyst complex component 3-like 2 14702039,12477932,9373149,8889549,8125298,19197348,20460622 90332 NM_138568,AC006126,CH471126,AA069926,AF490256,AK093466,AK225791,BC104947,BC104949 NP_612635,EAW57331,AAO85464,BAC04175,AAI04948,AAI04950,Q2M3D2 Hs.721742 FLJ36147|MGC16332|XTP7 HBV X-transactivated gene 7 protein|HBV XAg-transactivated protein 7|OTTHUMP00000207128|exocyst complex component 3-like protein 2|protein 7 transactivated by hepatitis B virus X antigen (HBxAg) protein-coding 1353036 EXOC4 exocyst complex component 4 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 18329369,11256614,18987618,18541705,18498660,17903302,16964243,16381901,15880602,15489336,15037366,14702039,14525976,12738960,12690205,12687004,12675619,12544826,12477932,11865051,11406615,11230166,11214970,11076863,9655500,9630218,9405631,17353931,17643375,18480549 60412 AK027688,AK095495,AK295404,AK297458,AK298191,AK299927,AL831989,AL834475,AW451395,BC020607,BC026174,BC067263,BE244117,BE246205,NM_021807,NM_001037126,AC007790,AC009178,AC009180,AC009358,AC024086,AC083872,AC083875,AC093147,CH236950,CH471070,AB051486,AF132734,AF380839,AK022751 BAB55298,BAG53069,BAH12057,BAH12585,BAH12738,BAH13175,CAD89977,CAD39134,AAH20607,AAH26174,AAH67263,Q6NX51,Q6PJ82,Q8TAR2,Q96A65,CAL38306,NP_068579,NP_001032203,EAL24073,EAW83804,EAW83805,EAW83806,BAB21790,AAF66445,AAK57456,BAB14225 Hs.321273 MGC27170|REC8|SEC8|SEC8L1|Sec8p SEC8-like 1|exocyst complex component 4|exocyst complex component Sec8|sec8-like 1 (s. cerevisiae) protein-coding 731494 EXOC5 exocyst complex component 5 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq] 1580863 16712791,9119050,16713569,15880602,15146197,15037366,14662749,14525976,12687004,12477932,11865051,11406615,9655500,9405631,8889548,19297529,20053792 10640 NM_006544,AL139195,AL391152,CH471061,AA837306,AF118083,AK025802,AK295085,AK303531,AK312523,AL118623,AL833745,BC006976,BC020643,BC031298,BC041126,BI460915,BI461191,BM723045,CB145811,CN268669,CR603207,CR607478,U85946 NP_006535,EAW80697,EAW80698,EAW80699,AAF22027,BAG58126,BAG64559,BAG35422,CAH56255,AAH41126,AAB53388,O00471,Q658M3,Q8IW24,Q9UHT0 Hs.727508 DKFZp666H126|HSEC10|PRO1912|SEC10|SEC10L1|SEC10P SEC10-like 1|component of rsec6/8 secretory complex p71 (71 kda)|exocyst complex component 5|exocyst complex component Sec10 protein-coding 733206 EXOC6 exocyst complex component 6 The product of this gene belongs to the SEC15 family. It is highly similar to the protein encoded by Saccharomyces cerevisiae SEC15 gene. This protein is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 69939,1580863 16478783,16344560,15489334,15292201,15205466,14702039,12477932,8889548,20944747,21044367,16385451,20379614 69939 54536 AL137438,AL832501,BC028395,BC041403,BM148225,BM979273,BU674151,CB991016,CR605041,DA187840,DB060830,EF571007,NM_001013848,NM_019053,AL157705,AL358613,AL392103,AL590080,CH471066,AF220217,AI039616,AI680957,AK002113,AK123268,AK128190,AK293857,AK300285,AK315544 BAG37922,CAB70736,AAH28395,ABQ95573,Q8TAG9,Q9NTA6,Q9NUN4,ACE87850,NP_001013870,NP_061926,CAH72805,CAI40847,CAI40848,CAH74087,CAM20225,EAW50082,EAW50083,EAW50084,EAW50085,EAW50086,AAF37262,BAA92088,BAG54647,BAG57252,BAH13251,ACT64374 Hs.655657 DKFZp761I2124|EXOC6A|FLJ1125|FLJ11251|MGC33397|SEC15|SEC15L|SEC15L1|SEC15L3|Sec15p SEC15-like 1|SEC15-like protein 1|SEC15-like protein 3|exocyst complex component 6|exocyst complex component Sec15A protein-coding 1349809 EXOC6B exocyst complex component 6B In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM] 1580863 18424204,14702039,12477932,11406615,10231032,9847074 23233 NM_015189,AC006461,AC016770,AC092630,AC104309,AC105051,AB023136,AK023791,AK026474,BC029921,BX951761,CR619266,DR001300 NP_056004,BAA76763,BAB14681,Q9H8D6,Q9Y2D4,AAI60001 Hs.303454 KIAA0919|SEC15B|SEC15L2 OTTHUMP00000202269|SEC15 homolog B|SEC15-like 2|SEC15-like protein 2|WUGSC:H_NH0343N14.1|exocyst complex component 6B|exocyst complex component Sec15B protein-coding 1347556 EXOC7 exocyst complex component 7 EXOC7 is a component of the exocyst, which is an evolutionarily conserved octameric protein complex essential for exocytosis. The exocyst targets secretory vesicles at specific domains of the plasma membrane for cell surface expansion and protein secretion (Zuo et al., 2006 [PubMed 17086175]).[supplied by OMIM] 737633,1580863 18000879,17086175,16964243,16344560,15705715,15489334,15205466,14702039,12477932,11054383,10610771,10608757,10470851,16169070,12738960,12687004,16189514,14525976,11406615,16148947 737633 23265 AL834324,AY869728,BC011045,BC015165,BC018466,BC029432,BX647763,BX648435,CB989148,DA224278,DC319923,FJ457119,FJ457120,NM_001013839,NM_001145298,NM_001145297,NM_001145299,NR_028133,AC018665,AF067415,CH471099,AB028990,AI653861,AK000718,AK022397,AK022552,AK023832,AK024769,AK098284,AK128278,AK295871,AL162005,NM_015219 CAD38992,AAW65095,AAH11045,AAH15165,AAH18466,CAH56185,ACK36853,ACK36854,Q5G0E1,Q63HP7,Q96BU6,Q9UPT5,NP_056034,NP_001013861,NP_001138770,NP_001138769,NP_001138771,AAC25180,EAW89367,EAW89368,EAW89369,EAW89370,EAW89371,EAW89372,EAW89373,EAW89374,BAA83019,BAB14026,BAB14095,BAB14694,BAG58669 Hs.514496 2-5-3p|DKFZp686J04253|EX070|EXO70|EXOC1|Exo70p|FLJ40965|FLJ46415|YJL085W OTTHUMP00000198364|exocyst complex component 7|exocyst complex component Exo70 protein-coding 1343470 EXOC8 exocyst complex component 8 737633,1580863 19615732,20145037,18029348,16189514,16710414,15489334,14702039,14525976,12954101,12687004,12477932,11406615,9655500,9405631 737633 149371 NM_175876,AL117352,CH471098,AK096460,AL133716,BC035763,CA775845 NP_787072,CAI23095,EAW69955,BAG53295,AAH35763,Q8IYI6 Hs.356198 EXO84|Exo84p|SEC84 OTTHUMP00000036150|exocyst complex 84 kDa subunit|exocyst complex 84-kDa subunit|exocyst complex component 8 protein-coding 1312174 EXOG endo/exonuclease (5'-3'), endonuclease G-like This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq] 1580863 20877624,10231028,18187503,14702039,17415550,12477932,8012384 9941 NM_001145464,AP006241,CH471055,Z63425,AA993872,AB020523,AK023235,AK289602,AK290107,AK301067,AK308814,AK315814,BC015820,BC065368,BC104212,BC104213,CR598554,NM_005107,CR611363 NP_005098,NP_001138936,EAW64537,EAW64538,EAW64539,BAA76752,BAG51171,BAF82291,BAF82796,BAG62674,BAF98705,AAI04213,AAI04214,Q9Y2C4 Hs.517897 ENDOGL1|ENDOGL2|ENGL|ENGL-a|ENGL-b|ENGLA|ENGLB|MGC125944|MGC125945 OTTHUMP00000209093|OTTHUMP00000209790|OTTHUMP00000209791|endo G-like 1|endonuclease G-like 1|endonuclease G-like 2|nuclease EXOG, mitochondrial protein-coding 1352643 EXOSC1 exosome component 1 This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. 1580863 11812149,16344560,15635413,15489334,15231747,15164054,14702039,12477932,12419256,11879549,11719186,11110791,10810093,12788944 51013 NM_016046,AL355490,CH471066,AF151866,AK091709,AK307229,AK313717,BC012538,BC022067,CR595473,DB137484 NP_057130,CAI40779,CAI40780,CAI40781,CAI40782,EAW49936,AAD34103,BAG36460,AAH22067,Q9Y3B2 Hs.632089 CGI-108|CSL4|Csl4p|RP11-452K12.9|SKI4|Ski4p|hCsl4p|p13 3'-5' exoribonuclease CSL4 homolog|CSL4 exosomal core protein homolog|exosomal core protein CSL4|homolog of yeast exosomal core protein CSL4 protein-coding 1349336 EXOSC10 exosome component 10 1580863 18029348,15231747,1383382,17545563,15489334,14872500,14702039,14527413,12788944,12477932,12429849,12419256,11879549,11812149,11719186,11426320,11110791,10465791,1644924,18172165,19103309,19220911 5394 NM_002685,NM_001001998,AJ300188,AL109811,CH471130,AB209236,AK093955,AK123365,AK294058,AK296559,AK308778,BC008460,BC009908,BC028687,BC039901,BC073788,CR594914,L01457,X66113,FB775526,FB775528 NP_002676,NP_001001998,CAC15569,CAI22106,CAI22107,EAW71677,EAW71678,EAW71679,BAD92473,BAG57405,BAG59180,AAH09908,AAH39901,AAH73788,AAB59352,CAA46904,Q01780,Q59G73,Q96G78,ACE87721,ACE87037,CAV30720,CAV30721 Hs.632368 PM-Scl|PM/Scl-100|PMSCL|PMSCL2|RRP6|Rrp6p|p2|p3|p4 P100 polymyositis-scleroderma overlap syndrome-associated autoantigen|autoantigen PM-SCL|autoantigen PM/Scl 2|exosome component 10|polymyositis/scleroderma autoantigen 100 kDa|polymyositis/scleroderma autoantigen 2 (100kD)|polymyositis/scleroderma autoantigen 2, 100kDa protein-coding 1315266 EXOSC2 exosome component 2 633241,1580863 8600032,15231747,17545563,15635413,15489334,15302935,15175153,14702039,14527413,12477932,12419256,11879549,11812149,11719186,11110791,10465791,9390555,8453102,7665185,6319012,6316147,6302194,6281890,3313010,3023859,3021337,2989703,2678002,2193202,2163052,1868241,1538749,16712791,12788944,17643375 633241 23404 CB112633,CR590387,CR622078,AL359092,CH471090,U07561,AK001916,AK022460,AK090512,AK092727,AK296605,AK303163,BC000747,BC128445,NM_014285 Q13868,ABM83679,ABW03545,NP_055100,EAW87941,EAW87942,EAW87943,EAW87944,AAB60392,BAA91977,BAB14043,BAG52174,BAG59218,BAG64263,AAH00747,AAI28446,CAM45748 Hs.654643 RRP4|Rrp4p|hRrp4p|p7 exosome complex exonuclease RRP4|homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)|homolog of yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease|ribosomal RNA-processing protein 4 protein-coding 1312357 EXOSC3 exosome component 3 1580863 11110791,15231747,15489334,15175153,12477932,12419256,11879549,11812149,11790298,11719186,10810093,10465791,12788944 51010 NM_001002269,NM_016042,AL138752,CH471071,AF151860,AF229833,AF281132,AI886209,AK289571,AK290864,BC002437,BC008880,CA414231,CF994051 NP_001002269,NP_057126,CAI13880,EAW58264,AAD34097,AAF42918,AAF82133,BAF82260,BAF83553,AAH02437,AAH08880,Q9NQT5,Q9NYS3,ABM82864,ABM86051 Hs.602571,Hs.713483 CGI-102|MGC15120|MGC723|RP11-3J10.8|RRP40|Rrp40p|bA3J10.7|hRrp-40|hRrp40p|p10 OTTHUMP00000215531|exosome complex exonuclease RRP40|exosome component Rrp40|ribosomal RNA-processing protein 40 protein-coding 2293248 EXOSC3P1 exosome component 3 pseudogene 1 100151640 NG_007654,AP000271 pseudo 2301482 EXOSC3P2 exosome component 3 pseudogene 2 100190954 NG_008711,AC008812 pseudo 1322197 EXOSC4 exosome component 4 1580863 11110791,15231747,17545563,16341674,15635413,15489334,14702039,14527413,12477932,12419256,11879549,11812149,11790298,11719186,10465791,12788944,18172165 54512 NM_019037,AC109322,CH471162,AF281133,AK000598,BC002777,BM839994 NP_061910,EAW82166,AAF82134,BAA91279,AAH02777,Q9NPD3 Hs.632041 FLJ20591|RRP41|RRP41A|Rrp41p|SKI6|Ski6p|hRrp41p|p12A exosome complex exonuclease RRP41|exosome component Rrp41|ribosomal RNA-processing protein 41 protein-coding 1317301 EXOSC5 exosome component 5 1580863 20660080,15635413,11110791,11812149,18157497,17081983,16815301,16189514,15489334,15231747,12477932,12419256,12359762,11879549,11719186,10465791,8889548,12788944,17643375 56915 NM_020158,AC011462,CH471126,AF281134,AF285785,AK314941,BC007742,BC107696,BU683254,CR592651,CR600780,CR620099,CR621752 NP_064543,EAW57038,AAF82135,AAM75154,BAG37447,AAH07742,AAI07697,Q9NQT4 Hs.283741 MGC111224|MGC12901|RRP41B|RRP46|Rrp46p|hRrp46p|p12B chronic myelogenous leukemia tumor antigen 28|exosome complex exonuclease RRP46|exosome component Rrp46|ribosomal RNA-processing protein 46 protein-coding 1320385 EXOSC6 exosome component 6 This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq] 12477932,12419256,11967169,11812149,11719186,11110791,18289715,15231747,14702039,12788944 118460 NM_058219,AC009060,CH471241,AK024276,AK095542,BC052252 NP_478126,EAW51841,AAH52252,Q5RKV6 Hs.660633,Hs.461187 EAP4|MTR3|Mtr3p|hMtr3p|p11 Mtr3 (mRNA transport regulator 3)-homolog|exosome complex exonuclease MTR3|hMtr3|homolog of yeast mRNA transport regulator 3|mRNA transport regulator 3 homolog protein-coding 1320266 EXOSC7 exosome component 7 1580863 11849973,11812149,11719186,16189514,15635413,15489334,15231747,14702039,12477932,12419256,11879549,11790298,11110791,7788527,12788944 23016 NR_023353,NM_015004,AC104165,CH471055,AK090511,AK130053,AK295779,AK315741,BC012831,BU153856,CR595617,CR603652,CR613866,CR616454,D29958 NP_055819,EAW64731,EAW64732,EAW64733,EAW64734,BAG58602,BAG38096,AAH12831,BAA06226,Q15024 Hs.719958 EAP1|FLJ26543|KIAA0116|RRP42|Rrp42p|hRrp42p|p8 exosome complex exonuclease RRP42|ribosomal RNA-processing protein 42 protein-coding 1314633 EXOSC8 exosome component 8 This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq] 1580863 15231747,16912217,15635413,15489334,14702039,12477932,12419256,11929972,11812149,11719186,9466265,8889548,11158571,12788944 11340 NM_181503,AL138706,CH471075,AF025438,AF279901,AK096810,AK126602,BC020773,BM697343,BU687776,CR595030,CR602904,CR612849,AL050353 NP_852480,CAI14013,EAX08579,EAX08580,EAX08581,AAC39558,AAH20773,Q5JXM0,Q96B26,CAI46226,ABM84060,ABM87413 Hs.294041 CIP3|EAP2|OIP2|RP11-421P11.3|RRP43|Rrp43p|bA421P11.3|p9 CBP-interacting protein 3|OIP-2|Opa interacting protein 2|exosome complex exonuclease RRP43|opa-interacting protein 2|ribosomal RNA-processing protein 43 protein-coding 1317344 EXOSC9 exosome component 9 1580863 20936779,11879549,14667819,15231747,2007859,17545563,17081983,16730941,15635413,14872500,12788944,12477932,12419256,11812149,11782436,11719186,11110791,10465791 5393 NM_001034194,NM_005033,AC079341,CH471056,AJ505989,AJ517294,AK301967,AK307548,AK310894,BC012371,BC142978,BU615347,BX649106,CR595328,CR596830,CR600057,CR617928,CR621174,CR621291,M58460,U09215 NP_001029366,NP_005024,AAY40968,EAX05247,EAX05248,EAX05249,EAX05250,EAX05251,EAX05252,CAD44530,CAD56889,BAG63380,AAI42979,AAA58384,AAA18832,Q06265,AAI40039,AAI40040 Hs.91728 PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6 OTTHUMP00000218283|P75 polymyositis-scleroderma overlap syndrome associated autoantigen|P75 polymyositis-scleroderma overlap syndrome-associated autoantigen|PMSCL autoantigen, 75kD|autoantigen PM/Scl 1|exosome complex exonuclease RRP45|polymyositis/scleroderma autoantigen 1 (75kD)|polymyositis/scleroderma autoantigen 1, 75kDa|polymyositis/scleroderma autoantigen 75 kDa protein-coding 1604627 EXPH5 exophilin 5 15489334,15342556,15231748,12590134,12477932,12062444,11773082,9734811,20936779,12189142 23086 NM_015065,NM_001144763,NM_001144765,AP000871,AP002453,AP005718,CH471065,AB014524,AI203086,AK025008,AK303993,AK304212,AL050204,AY099469,BC026281,BC031034,BC113119,BC117701,BP358360,CR627226,DC415184,DC416995 NP_055880,NP_001138235,NP_001138237,EAW67121,BAA31599,BAG64910,BAG65085,AAM44402,AAI13120,AAI17702,CAH10364,Q149M6,Q6AI59,Q8NEV8 Hs.28540 DKFZp586F1223|DKFZp781H0795|KIAA0624|MGC133291|MGC134967|SLAC2-B|SLAC2B exophilin-5|slp homolog lacking C2 domains b|synaptotagmin-like homologue lacking C2 domains b|synaptotagmin-like protein homolog lacking C2 domains b protein-coding 1313966 EXT1 exostoses (multiple) 1 This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq] 1598916,1580863 15586175,15489334,15385438,12907685,12477932,12032595,12907669,17353931,10639137,17761672,7550340,10878610,9620772,19453261,19344451,19309273,19179614,18976157,18810975,18373409,18330718,18216313,17676624,17610078,17589361,17341731,17301954,16638657,16283885,16088908,15985493,15796962,11391482,11169766,10679937,10679296,10545594,10480354,10441575,9756849,9521425,9463333,9326317,9119404,8981950,8530105,8317501,1757967,1684953,11432960,20578942,19839753,19893584,20025490,20418910,11518722,20618940 1598916 2131 NM_000127,NG_007455,AC021937,AC113188,AP003476,CH471060,U70539,AK130054,AK313129,BC001174,S79639 NP_000118,EAW91972,AAC51154,BAG35949,AAH01174,AAB62283,Q16394,ABM82794,ABM85982 Hs.492618 EXT|LGCR|LGS|TRPS2|TTV|ttv Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|exostosin-1|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 1|putative tumor suppressor protein EXT1 protein-coding 1317052 EXT2 exostoses (multiple) 2 This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 1580863 19913121,20571754,20580033,20628086,12907669,17353931,17761672,9326317,10878610,19453261,19380854,19344451,19336475,19309273,19179614,19008344,18666861,18633108,18597214,18544707,18373409,18294062,18210030,17928989,17786204,17293876,16638657,16283885,16088908,15796962,15586175,15489334,14654969,12907685,12477932,11668521,11432960,11391482,11170095,11169766,10738008,10679937,10679296,10639137,10545594,10480354,10429361,9756849,9620772,9576285,9463333,9110175,8894688,8782816,8162019,7668264,17589361,17301954,16344560,19839753,19933996,20140877,20379614,20872591,20418910,17676624,20879858 2132 NM_207122,NG_007560,AC068457,AC103854,AC134775,CH471064,U67354,U67355,U67368,AK296713,AK309459,AK312375,BC010058,BC013050,BC068545,BM997250,BX648142,U62740,U64511,U72263,NM_000401,BE348865,DA738392,NM_001178083 NP_000392,NP_997005,EAW68067,EAW68068,EAW68069,EAW68070,EAW68071,AAC51219,BAH12417,BAG35293,AAH10058,AAH68545,AAB07008,AAC50764,AAB62718,Q93063,NP_001171554,Q6NUL1 Hs.368404 SOTV N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostosin-2|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 2|putative tumor suppressor protein EXT2 protein-coding 1353323 EXT3 exostoses (multiple) 3 8081357 2133 1319981 EXTL1 exostoses (multiple)-like 1 This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq] 1580863 15489334,15110891,12477932,12417417,11390981,10575224,10480354,17474147,9037597,16710414,16344560 2134 NM_004455,AF083633,AF153980,AL391650,CH471059,BC065528,DA182373,R67266,U67191 NP_004446,AAD02840,AAF73172,CAI17130,EAX07851,AAH65528,AAC51141,Q92935 Hs.150956 EXTL|MGC70794 alpha-N-acetylglucosaminyltransferase II|exostosin-L|exostosin-like 1|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase|multiple exostosis-like protein protein-coding 1317015 EXTL2 exostoses (multiple)-like 2 1580863 19690583,10318803,15831490,14702039,12477932,10639137,9473480,9450183,8889548 2135 NM_001439,NM_001033025,AC104506,CH471097,AB009284,AF000416,AK001450,AK096914,AK298124,AK312895,BC014910,BC036015,BC045681,BU689972,CR624682,U76189 AAB93669,O00245,Q05DH5,Q49A43,Q8IYF4,Q8N8F1,Q9UBQ6,NP_001430,NP_001028197,EAW72946,EAW72947,EAW72948,BAA24081,AAC02898,BAC04893,BAG60404,BAG35742,AAH14910,AAH36015,AAH45681 Hs.357637 EXTR2 EXT-related protein 2|OTTHUMP00000013589|alpha-1,4-N-acetylhexosaminyltransferase EXTL2|alpha-1,4-N-acteylhexosaminyltransferase|alpha-GalNAcT EXTL2|exostosin-like 2|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|processed exostosin-like 2 protein-coding 1348647 EXTL2P exostoses (multiple)-like 2 pseudogene 9450183,9450183,21130836 2136,100287682 AC016751,NG_016787 EXTL2P pseudo 735783 EXTL3 exostoses (multiple)-like 3 1580863 19690583,19653241,17474147,19158046,18543267,17106246,15489334,12477932,11832488,11257457,10753861,10639137,9628581,9479495,9473480,9450183,20936779 2137 NM_001440,AC131969,CH471080,U96629,AB007042,AB011091,AF001690,AF029231,AF083551,AK294475,BC006363,BT007353,CR620585,CR749646,U76188 NP_001431,EAW63507,EAW63508,EAW63509,AAB67602,BAA24080,BAA25445,AAC39598,AAD01877,AAD42041,BAG57702,AAH06363,AAP36017,CAH18440,AAB93670,O43909,Q68CZ0,ABM81624,ABM84809 Hs.491354 BOTV|DKFZp686C2342|EXTR1|KIAA0519|REG|REGR|RPR EXT-related protein 1|exostosin-like 3|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|hereditary multiple exostoses gene isolog|multiple exostosis-like protein 3|putative tumor suppressor protein EXTL3|reg receptor protein-coding 1317054 EYA1 eyes absent homolog 1 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene. [provided by RefSeq] 1598917,1580863 20634891,17049623,16797546,16691597,16441263,16344560,16005355,15493068,15489334,15226428,15141091,12874121,12701758,12500905,12404110,12070080,11950062,11734542,11683347,11558900,17637804,11409867,10991693,10655545,10490620,10464653,9853969,9603436,9428512,9361030,9359046,8889548,19234442,9020840,19240061,19213029,19206155,18220287,18065799,17903308,12477932,15492887,19497856,19667416,19789318,2154751,7829101,20209935,20956555 1598917 2138 NM_000503,NM_172060,NM_172058,NM_172059,NG_011735,AC016465,AC022858,AJ786168,AJ786169,CH471068,Y10260,AF467247,AJ000097,AJ000098,AK127798,AK295897,AK307379,BC121798,BC121799,BI497179,BU679404,DA618315,DB004805,DC409057 NP_000494,NP_742057,NP_742055,NP_742056,CAH05072,CAH05073,EAW86973,EAW86974,EAW86975,EAW86976,EAW86977,EAW86978,EAW86979,EAW86980,CAA71309,AAL73437,CAA03922,CAA03923,BAG54573,BAG58690,AAI21799,AAI21800,Q0P517,Q4A4D0,Q8WX80,Q99502 Hs.491997 BOP|BOR|MGC141875 OTTHUMP00000195055|OTTHUMP00000195107|OTTHUMP00000195108|eyes absent homolog 1 protein-coding 1350703 EYA2 eyes absent homolog 2 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq] 1580863 19913121,20628086,10490620,19497856,19858093,20201926,20379614,19351884,9020840,19414679,16189514,15705892,15489334,14702039,12500905,12477932,12039049,11780052,10906137,9887327,9195991,9110174,9049631,8619474,19950702 2139 NM_172110,NG_011673,AL049540,AL121776,AL354766,AL359434,AL390211,CH471077,Y10261,AF055015,AF387364,NM_005244,AF455147,AF455148,AF455149,AF455150,AJ007992,AK093582,AK293032,AY705349,BC000289,BC008803,BC013882,BT006682,U71207,U81601 NP_005235,NP_742108,CAI23166,CAI42150,CAI42151,CAI40099,CAI40100,CAC15962,CAI42536,EAW75720,EAW75721,EAW75722,CAA71310,AAC09362,AAK62466,AAK62467,AAL57874,AAL57875,AAL57876,AAL57877,AAL57878,CAA07815,BAF85721,AAU11525,AAH00289,AAH08803,AAH13882,AAP35328,AAB51120,AAB42065,O00167,O60647,Q66T69,Q8WXB5,Q96J96,Q96J97 Hs.722040,Hs.722415,Hs.722416,Hs.472877 EAB1|MGC10614 OTTHUMP00000214836|eyes absent homolog 2 protein-coding 1320540 EYA3 eyes absent homolog 3 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. A similar protein in mice acts as a transcriptional activator. [provided by RefSeq] 1580863 19234442,19351884,9020840,9049631,14628042,12477932,12215533,10490620,9887327 2140 NM_001990,AL137792,AL512288,CH471059,Y10262,AJ007991,AK289805,AK295745,AK298129,AK303664,AL603098,BC029500,BC041667,BQ018346,BX648945,U81602 NP_001981,CAI14296,CAI14297,CAI14298,EAX07713,CAA71311,CAA07814,BAF82494,BAG58579,BAG60409,BAG64663,AAH29500,AAH41667,AAB42066,Q0P685,Q8IVX7,Q99504,ABZ92386 Hs.185774 DKFZp686C132 OTTHUMP00000004015|eyes absent 3|eyes absent homolog 3 protein-coding 1316090 EYA4 eyes absent homolog 4 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Defects in this gene are also associated with dilated cardiomyopathy 1J. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1598455,1580863 17567890,16964243,16344560,15735644,15489334,14574404,12477971,12477932,11159937,10769282,8776603,9887327,18464913,18219393,17568404,21061259,15492887,19901965,19939248,20379614 1598455 2070 NM_004100,NM_172103,NG_011596,AL024497,AL121959,AL356242,AL450270,CH471051,Y17847,AJ007993,AJ007994,AK295798,AK299378,AK301950,AW613879,BC014193,BC030588,BC041063,BX490250,DA760903,Y17114,NM_172105 NP_742103,NP_004091,NP_742101,CAI42523,CAI42524,CAI42525,CAB92069,CAI41272,CAI41273,EAW48004,EAW48005,EAW48006,CAA76891,CAA07816,CAA07817,BAG58618,BAG61368,BAH13593,AAH14193,AAH41063,CAA76636,O95677,Q5JS10,Q96CJ7,ABZ92385 Hs.596680 CMD1J|DFNA10 OTTHUMP00000017236|dJ78N10.1 (eyes absent)|eyes absent homolog 4 protein-coding 1343253 EYCL1 eye color 1 (green/blue) 3568446 2141 1350666 EYCL3 eye color 3 (brown) 8875191 2144 1343004 EYS eyes shut homolog (Drosophila) The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 21069908,20237254,20333770,20379614,20375346,20537394,18976725,18836446,18510647,18510646,14574404,12975309,12477932,11181995,10417302,9585594,20696082 346007 NM_001142800,NM_001142801,AL050329,AL109612,AL132767,AL353153,AL365217,AL445677,AL450324,NM_198283,NG_023443,AL078597,AL109922,AL133322,AL137007,AL353669,AL354913,AL355357,AL356454,AL357375,AL450319,AL590546,AL590784,AL603767,AL450394,AL589916,CH471143,AK310478,AY358133,BC133011,BC133013,BX537914,BX647741,FJ416331,FM209056 NP_938024,NP_001136272,NP_001136273,CAB99359,CAI18881,CAM27006,CAI22904,CAM28320,CAI16606,CAM23289,CAI13283,Q5T1H1,CAI12363,CAM13294,EAW88497,AAQ88500,AAI33012,AAI33014,ACJ37365,CAR64275,Q5SZM4 Hs.25067 C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|KIAA0663|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1 EGF-like protein 10|EGF-like protein 11|EGF-like-domain, multiple 10|EGF-like-domain, multiple 11|OTTHUMP00000213100|OTTHUMP00000217891|epidermal growth factor-like protein 10|epidermal growth factor-like protein 11|notch-like|protein eyes shut homolog|protein spacemaker homolog|spacemaker protein-coding 1312813 EZH1 enhancer of zeste homolog 1 (Drosophila) EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM] 1580863 8921387,19026781,19026780,15489334,12477932,9584197,9473645,9205841,16565076,18029348,7774925,7774924,7490091,9566901,7774926,20819778 2145 NM_001991,AC100793,CH471152,AB002386,AB004818,AK295626,AK295853,AK299887,AK304835,AK309121,AK310399,AK310556,AK311237,AL833159,BC015882,BT009782,DC333017,L38934,L38938,U50315,XR_109385,XR_111700,XR_115105 NP_001982,EAW60870,EAW60871,BAA20842,BAA25019,BAG58503,BAG58659,BAG61734,BAG65579,AAH15882,AAP88784,AAB59574,AAC50778,Q92800 Hs.194669 KIAA0388|KMT6B ENX-2|histone-lysine N-methyltransferase EZH1 protein-coding 1312683 EZH2 enhancer of zeste homolog 2 (Drosophila) This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 20479932,20573371,19202064,20724984,16179254,16565076,18453536,18519590,18931660,19279403,19386347,19564843,19709408,19723877,19773751,19901851,19904743,19934278,19934320,19969553,20015867,20081860,20087897,20123894,20127006,20132185,20369694,20379614,20478527,19026780,19661437,20211142,20863566,20935635,8954776,16357870,17560333,8921387,15385962,19340297,19289832,19258506,19099573,19079346,19074885,19047178,19026781,19008416,18980972,18806826,18713946,18637271,18628979,18623083,18591938,18502945,18488029,18430739,18406871,18377425,18285464,18269588,18159594,18095286,17996646,17911618,17804093,17694325,17676662,17640228,17596871,17545586,17541304,17502350,17453341,17344414,17332078,17237810,17172412,17134822,17081983,17018586,16964243,16963837,16855786,16717091,16575874,16565220,16489070,16361539,16331887,16314526,16224021,16215315,16189514,16169070,16015586,15882624,15856046,15817459,15536069,15302935,15225548,15208672,15099518,15077161,14965441,14702039,14532106,14500907,12853948,12690205,12477932,12374981,11571280,11342607,10780782,10581039,9742080,9584199,9584197,9499421,9214638,8889548,8649418,14610174,19578722,20402834,20564407,20616235,20569692,20684863,19893569,20601953,20601954,20480530,16431907,20736451,20952513,20478051 2146 NM_152998,NM_004456,AACC02000041,AC006323,AC073140,CH471146,U52965,AB208895,AK092676,AK293239,AK302216,AK303585,AK303637,AK314291,AY519465,BC010858,BG829016,BM974565,CR604099,U61145,X95653 NP_694543,NP_004447,EAL24423,EAL24424,AAS02035,AAS02036,AAS07448,EAW80067,EAW80068,EAW80069,EAW80070,AAC50591,BAD92132,BAG52592,BAH11472,BAH13652,BAH13991,BAH14002,BAG36948,AAS09975,AAH10858,AAC51520,CAA64955,Q15910,Q59H64,Q6R125,Q75MG3,Q75MP9,Q75MQ0,ABM85105 Hs.444082 ENX-1|ENX1|EZH1|KMT6|KMT6A|MGC9169 OTTHUMP00000213774|OTTHUMP00000213778|OTTHUMP00000213779|OTTHUMP00000213780|enhancer of zeste 2|histone-lysine N-methyltransferase EZH2|lysine N-methyltransferase 6 protein-coding 1350208 EZR ezrin The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq] 1580863 15020681,16737952,17159908,17891137,18246799,18788632,18997619,19080005,19088174,19170196,19331807,19550117,19556366,19591839,19597468,19604375,19615732,19625176,19648886,19654214,19692168,19786985,19830727,19890007,19935704,20010876,20036004,20128822,20335315,20379614,10793131,12082081,15498789,11598191,9852149,7844168,19399936,19386264,19366061,19255442,19234486,19165868,19164283,19152423,19129194,19124745,19084535,19060919,19050913,18941185,18852256,18840437,18725408,18701134,18682798,18676680,18552365,16867268,20363977,12154370,20679347,20348881,20395446,20569470,18545143,18508927,18486367,18459457,18425081,18305045,18295815,18270268,18203644,18155831,18078820,18046454,17911601,17886294,17881735,17825285,17786474,17726647,17659733,17616675,17538024,17525629,17515952,17370041,17370040,17237445,17028919,16889625,16873375,16677779,16648854,16633060,16554733,16538541,16438931,16352594,16344560,16230228,16144921,16129695,15843435,15797715,15751968,15729356,15677456,15647376,15623525,15531580,15489334,15252013,15178693,15149851,15096511,14981079,14704791,14704789,14676203,14574404,12860416,12808036,12800220,12769842,12734202,12711360,12651155,12626536,12560083,12477932,12429733,12385025,12370738,12360288,12271120,12111362,12080047,12070130,12032545,11784723,11726633,11706008,11468295,11438984,11387207,11285285,11013215,10970850,10955717,10893422,10806479,10733515,10713718,10704377,10462524,10377409,10036239,9928947,9921900,9748260,9705328,9616160,9501018,9314537,9287351,8892894,8713105,8248180,8162705,8089177,7876308,7579708,2674140,2592436,2591371,1924289,1762625,1382070,1381389,1159819,14739941,15818415,9213396,11684085,15659383,14625392,17353931,10799517,9009265,12387735,20701102,18029348,20873751,20237154,20551903,20552365,20562647,20501702,12082080,20811677,20872967,19913121,20628086,20628624,20855527 7430 NM_003379,NM_001111077,AL589931,CH471051,AF187552,AF188896,AF188897,AF189213,AF190059,AF199015,AI366687,AK129727,AK296738,AK299456,AK312597,AK316031,AL162086,BC013903,BC068458,CR594430,CR601963,CR607588,CR607782,CR614834,CR617104,DA754543,DA783190,J05021,X51521 NP_003370,NP_001104547,CAI95307,EAW47646,EAW47647,AAD56713,AAF03154,AAF03155,AAF03156,AAF03158,AAF09502,BAH12423,BAH13038,BAG35489,BAH14402,CAB82418,AAH13903,AAH68458,AAA61278,CAA35893,P15311,Q6NUR7,Q9UJU1,Q9UJZ2,Q9UJZ6,Q9UJZ7,Q9UJZ8,Q9UK20,ABM83680,ABM86977 Hs.487027 CVIL|CVL|DKFZp762H157|FLJ26216|MGC1584|VIL2 cytovillin 2|ezrin|p81|villin 2 (ezrin)|villin-2 protein-coding 1342967 F10 coagulation factor X This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. [provided by RefSeq] 2290183,1601104,1580376,1580863 19913121,20628086,12787023,12574802,12529356,12524437,12490286,12477932,12426309,12379114,12370181,12220193,12163491,12123809,12056907,12036878,12011050,11983337,11914651,11867437,11864704,11854268,11560488,11371191,10828960,10746568,10521497,10460162,10391209,9759621,9734641,9689066,9618463,9596664,9538022,9402754,9198147,9079657,8939944,8702971,8663221,8460120,8428982,8355279,8243461,8146182,8136380,7669671,6871167,6587384,3768336,3487272,3422166,2790181,2612918,2582420,2551064,2303476,1902434,1698100,16169070,19135706,19172319,19244162,19250659,19350128,19350129,19429866,19581306,19652365,19691479,19724895,19843455,19851296,19858193,19874476,19895674,19931652,20062915,20062929,20135059,20198315,9058203,20589317,20664909,20694273,21071689,20140262,20589316,20826780,20156644,17469850,18267072,3011603,7598447,18612547,2110473,2271516,3052293,8639673,14718574,14982929,19404516,19190817,19188667,19158249,19108874,18991406,18974842,18929857,18784085,18768472,18766253,18765660,18680100,18591887,18506702,18502757,18419747,18403394,18391209,18388497,18296445,18278195,18245654,18198180,18178242,18174463,18062812,18031796,18000611,17973648,17903294,17726015,17646160,17635109,17588602,17553804,17403098,17393015,17391309,17343367,17173931,17118432,17020886,16940049,16935856,16894464,16839353,16580898,16517611,16359518,16212554,16207719,16105945,16079143,16042383,16006504,15924438,15897196,15892863,15882255,15641797,15634274,15567463,15550696,15494418,15489334,15347660,15328360,15326167,15069066,15009463,14979399,14963035,14750502,14739327,14629468,14583605,14576464,14575696,14532267,12941034,12805370,20427285,20730886,20347121,16712791,20088935,20088937,20722419 2290183,1601104,1580376 2159 NM_000504,NG_009258,AB005892,AF503510,AL137002,CH471085,EF445049,L00390,L29433,M33297,AK310772,AK310775,AK313798,BC040125,BC046125,CB158437,CR603372,CR607773,CR623031,K01886,K03194,M22613,M57285,CS355178 NP_000495,BAA21634,AAM19347,CAI41385,CAI41386,CAX11893,EAX09184,EAX09185,ACA06104,AAA52764,AAA52636,BAG36534,AAH46125,AAA52486,AAA52490,AAA51984,AAA52421,O15095,P00742,Q5JVE7,CAL24230 Hs.361463 FX|FXA OTTHUMP00000202678|Stuart-Prower factor|coagulation factor X|factor Xa|prothrombinase protein-coding 1319673 F11 coagulation factor XI This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq] 2290183,1598923,1580863 19913121,20628086,9593722,89876,18839438,18832909,18612554,18441012,18388506,18387979,18327400,18268095,18217146,18192270,18186617,18024374,18020374,18005151,17768109,17652512,17597996,17581330,17549289,17284699,17257616,17229051,16878977,16835901,16613788,16344560,16335952,16330457,16204896,16085935,16079124,16042419,15996948,15870541,15842381,15815621,15634276,15545266,15489334,15456490,15456480,15456479,15375170,15317813,15226185,15090552,15072993,14717969,14629467,14521595,14521591,12944405,15182578,19351955,19583818,19617576,19652879,19661487,19682239,19718484,20042724,20110423,20128871,20352152,20523169,20589316,12496253,12477932,12372819,12167623,12029092,11895778,11891231,11733491,11412111,10962009,10823824,10606881,10552949,10494760,10391209,10027710,9787168,9401068,9242536,8703832,8555184,7888672,7669672,7044446,6626744,3936495,3636155,2827746,2813350,2551064,2052060,2019570,1998667,1952475,1762944,1673289,1652157,1547342,291905,18515884,12871398,20456758,20339536,20015217 2290183,1598923 2160 M18295,M20218,AF045649,AK313195,BC020617,BC029374,BC119014,BC122863,DA630863,M13142,NM_000128,NG_008051,AB004057,AC110771,AY191837,CH471056 AAA51985,AAC24506,AAI19015,AAI22864,AAA52487,P03951,Q9UEG0,EAX04621,NP_000119,BAA20295,AAY40901,AAN85554,EAX04619,EAX04620 Hs.1430 FXI|MGC141891 OTTHUMP00000218130|PTA|coagulation factor XI|plasma thromboplastin antecedent protein-coding 1348345 F11R F11 receptor Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq] 1580863 10395639,19533747,19395995,19250634,19214165,19176753,19118219,19079583,18514073,18381425,18158589,18096610,18067551,18022613,17822725,17672918,17623668,17452315,16710414,16418218,16344560,16303743,16189514,15977176,15681301,15677455,15489334,15344881,15340161,15065765,14749337,14519386,12975309,12958043,12817473,12810109,12750158,12697893,12665801,12477932,12428104,12234928,12174908,12008956,11812992,11689568,11489913,11447115,11256614,11239401,11230166,11171323,11120739,11087121,10877843,10856295,10852816,10753840,18039951,10698320,7646439,2351647,12953056,15811349,17057644,18849408,19748485,20237496,20378847,20627246,20818426,19913121,20628086 50848 AL136649,AL365518,AY358896,BC001533,BT020103,CR533512,CR608619,CR617107,CR617300,DA907460,NM_016946,AF490407,AL591806,CH471121,CQ783224,CQ834196,CQ834198,AF154005,AF172398,AF207907,AK026665,AK075152,AK299487,AK304412 CAB66584,AAQ89255,AAH01533,AAV38906,CAG38543,Q6FIB4,Q9Y5B2,Q9Y624,ABM83154,ABM86354,ACE87248,ACE86566,NP_058642,AAO84556,CAI15365,EAW52677,EAW52678,EAW52680,EAW52681,EAW52682,EAW52683,CAF86420,CAH05313,CAH05314,AAD43794,AAD48877,AAF22829,BAC11436,BAH13047,BAH14177 Hs.517293 CD321|JAM|JAM-1|JAM-A|JAM1|JAMA|JCAM|KAT|PAM-1 OTTHUMP00000027880|OTTHUMP00000027881|junctional adhesion molecule 1|junctional adhesion molecule A|platelet F11 receptor|platelet adhesion molecule 1 protein-coding 1345372 F12 coagulation factor XII (Hageman factor) This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq] 1601107,2290183,2312416,1601106,1580863 19913121,20532885,20628086,20673868,20814302,20383146,8665943,2510163,6793628,89876,19646235,19625260,19477491,19474702,19422815,19420105,19415820,19204433,19178938,19178407,19127083,18974842,18832903,18793325,18765660,18710647,18441012,18327401,18278180,18180442,18024408,18021303,17982641,17825897,17605651,17408404,17186468,17143557,17139385,16638441,16493494,16411408,16335952,16199891,16170239,16167952,16157382,16015420,15749685,15748262,15617741,15567455,15306750,15257949,15232129,15205584,15116249,15000805,14760718,14718574,14597972,12876626,12492481,12477932,12208481,12052484,11843842,11821096,11805911,11792853,11776307,11589915,11248286,11204562,10930399,10801853,10361128,9490684,9354665,8710908,8641707,8528215,8049433,6604055,4140832,3886654,3877053,3754331,3521732,3361230,3198120,3162339,3011063,2888762,2882793,1998666,1544894,19372376,19448530,19578796,19647418,19698288,19786295,19878657,19933701,19933990,20142324,20143645,20303064,20452482,20589311,21071604,19809305,18725990,20386432,20228268,20022356,21071930 1601107,2290183,2312416,1601106 2161 BE139501,BT007350,CR601747,CR602253,CR616520,M11723,M13147,M31315,BC012390,NM_000505,NG_007568,AC145098,AF538691,AM262522,CH471195,L43615,M17464,M17466,U71274,U71275,U71276,U71277,U71278,AB095845 AAH12390,AAP36014,AAA51986,AAA70224,AAA70225,P00748,P78340,P78341,P78342,P78343,Q1JR85,Q8IZZ5,Q96EF3,AAI68381,NP_000496,AAM97932,CAK18991,EAW85002,EAW85003,EAW85004,EAW85005,AAB59491,AAB59490,AAB51203,AAB51204,AAB51205,AAB51206,AAB51207,BAC23095 Hs.1321 HAE3|HAEX|HAF Hageman factor|beta-factor XIIa part 1|beta-factor XIIa part 2|coagulation factor XII|coagulation factor XIIa heavy chain|coagulation factor XIIa light chain protein-coding 732286 F13A1 coagulation factor XIII, A1 polypeptide This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq] 1581020,1581021,1581022,1581023,1581026,1581027,1581028,1581032,1581030,1580863,734955 19913121,20532202,20532885,20553949,20628086,20634891,20673868,20680227,7660355,4811064,3026437,2903011,2901091,2491853,2365049,2184890,2009280,1644910,1353995,14630798,17183677,19422454,19477035,19560472,19572072,19604232,19660184,19691486,19729601,19778283,19783216,19787322,19804366,19826759,19860767,19906129,19923980,19937244,19948975,19958990,19967163,20044141,20051843,20086247,20093496,20113359,20161734,20211923,20227257,20237496,20379614,20384622,20425806,20452482,20609463,20822334,19336370,19190815,19072566,19064572,19061349,19023099,19008959,18974842,18930220,18927546,18848323,18808204,18521512,18378576,18173921,18057060,18028394,18006701,18004208,18000871,17994314,17982641,17975119,17927806,17899444,17895511,17880458,17704111,17691819,17621488,17597187,17582472,17568659,17549290,17516146,17515963,17488662,17476115,19415820,19395327,17433418,14706682,14604285,14593529,12958613,12958612,12878486,12861374,12859294,12816904,12757770,12725605,12632025,12542492,12526104,12486862,12480694,12477932,12456499,12373334,12100162,12072871,11963567,11961312,11941274,11920201,11916071,11853093,11841441,11834540,11692020,11380452,11372678,11307805,11167856,11154124,11154123,10963790,10958788,10956659,10828988,10391209,10027709,9988734,9763561,9721590,9712293,9550516,9546612,9531593,9515726,9469423,8989823,8905624,8797098,8547636,7920263,7918041,2877456,10801785,2866798,2877457,17408468,17393027,17334514,17296595,17288735,17250879,17241179,17230042,17195962,17156138,17111197,17107352,17003923,16988547,16950433,16945500,16938111,16920044,16911684,16882823,16881935,16857944,16844105,16820332,16765424,16763156,16740590,16642548,16635210,16567932,16525568,16501286,16456856,16368540,16335952,16330458,16192348,16113789,16102108,15968394,15831156,15692256,15644629,15629368,15618543,15534175,15533380,15489334,15456491,15453833,15387436,15386532,15364237,15350843,15342556,15333035,15219459,15131115,15065858,14870915,7913750,7873582,7913909,7727776,19784898,21116278 1581020,1581021,1581022,1581023,1581026,1581027,1581028,1581032,1581030,734955 2162 NM_000129,NG_008107,A03736,AF218234,AF418272,AL133326,AL157775,AL391420,CH471087,M22001,AB208852,AK130666,AK304335,AK312735,BC027963,BP251770,CR597673,CR612572,CR620128,M14354,M14539 NP_000120,CAA00294,AAF65991,AAL12161,CAB99356,CAI20420,CAO03607,CAO03608,CAC36886,CAI39796,CAI39797,EAW55185,EAW55186,AAA52415,BAD92089,BAG65180,BAG35606,AAH27963,AAA52488,AAA52489,A0A2H0,P00488,Q5TD18,Q9NQP5,Q9NZ69,ABM84487,ABM85035,ABW03340 Hs.335513 F13A FSF, A subunit|TGase|bA525O21.1 (coagulation factor XIII, A1 polypeptide)|coagulation factor XIII A chain|coagulation factor XIII, A polypeptide|coagulation factor XIIIa|coagulation factor xiiia|factor XIIIa|fibrin stabilizing factor, A subunit|fibrinoligase|protein-glutamine gamma-glutamyltransferase A chain|transglutaminase A chain|transglutaminase. plasma protein-coding 1349196 F13A2 coagulation factor XIII, A2 polypeptide 2163 1344690 F13A3 coagulation factor XIII, A3 polypeptide 2164 1323246 F13B coagulation factor XIII, B polypeptide This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq] 1580863 19913121,20588308,20628086,20673868,2334637,18029348,2866798,14718574,18848323,18652485,18541031,18006701,17702963,19604232,19646949,19729601,19826759,19937244,19948975,20079358,20237496,20452482,21044367,2877457,2563250,2491853,2413926,2339067,2271707,1549502,1359667,17515963,16945500,16335952,16241947,15892856,15634282,14702039,12477932,12456499,11816711,11313256,10391209,9531593,9037894,8922891,8905624,8847818,8797098,8756701,8466897,8324218,7873582,3471677,3021194,17691819 2165 NM_001994,NG_012065,AL353809,AY692223,CH471067,M64554,AK290560,M14057,X51823 NP_001985,CAH72549,AAT85802,EAW91269,AAA51821,BAF83249,AAA88042,CAA36123,P05160,AAI48334 Hs.435782 FXIIIB TGase|coagulation factor XIII B chain|fibrin-stabilizing factor B subunit|protein-glutamine gamma-glutamyltransferase B chain|transglutaminase B chain protein-coding 1353256 F2 coagulation factor II (thrombin) Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq] 1580340,1580362,1580342,1578508,2313852,2313862,2290183,2313851,1601108,1580863,1578509 19913121,20505748,20532885,20563311,20571025,20601540,20602615,20603034,20608153,20616539,20626623,20628086,20673868,20687780,20707730,20708329,20724652,20735725,20798492,20811787,15968394,15968387,15968383,15958894,15952132,15948766,15947552,15947551,15947254,15918665,15916503,15900364,15897196,15896772,15892865,15892853,15886801,15886665,15879922,15879303,15869586,15852745,15842380,15842353,15839991,15836797,15831156,15821810,15817447,15813553,15808373,15790048,15769747,15755869,15749685,15749677,15748243,15723247,15718300,15716659,15705565,15691154,15667542,15665002,15634277,15630502,15625161,15609280,15590403,15582995,15582990,15576297,15572256,15559724,15547928,15542598,15534175,15531855,15528884,15522964,15515881,15494418,15481892,15088159,15077257,15075325,15075078,15072993,15059842,15056097,15039440,15034798,15033664,15007309,15003896,14995996,14994919,14961151,14961148,14760718,14739624,14722067,14717975,14707415,14706682,14701945,14679197,14677182,14676252,14669613,14669168,14662632,14652651,14642534,14638877,14630828,14629473,14597977,15091001,10556651,10543954,10391209,10350471,10218588,10051558,10026263,9883900,9869612,9864377,9851866,9834200,9576847,9546612,9531249,9528953,9402754,9373149,9307032,9292507,9252393,9242537,9214615,9183005,9129030,9058715,9032460,8942648,8916933,8843739,8663147,8428004,8415716,8407908,8226803,8125298,8102368,8071320,7989361,7865694,7792730,7615164,7592664,7566121,7548163,7545318,7538844,7238875,6405779,6305407,6132925,3944102,3801671,3800906,3771562,3759958,3567158,3558361,3474786,3471151,3192535,2933256,2825773,2760054,2583108,2544585,2374926,2249780,2133223,2040612,1981025,1872862,1652157,1587268,1557383,1421398,1354985,1349838,1334372,873923,625142,266717,15109955,8503188,8457383,2015114,12169660,15707890,16778142,16765424,16761446,16753154,16711541,16708126,16708116,16680739,16677567,16651869,16649017,16635210,16630215,16607075,16601831,16601829,16595080,16580898,16574759,16572609,16567932,16563366,16549163,16532157,16514238,16512831,16493484,16480903,16472842,16469858,16467413,16466010,16450127,16446869,16431900,16431184,16423600,16420563,16418283,16400524,16397131,16390788,16374139,16361766,16344560,16335952,16324093,16320685,16301339,16283309,16261289,16249980,16201098,16194196,16192348,16189694,16188774,16177630,16175009,16170289,16157382,16155788,16154434,16138347,16138341,16135581,16113792,16113789,16104949,16100725,16098865,16093732,16082606,16080493,16061406,16020118,16015425,16015153,16014310,16006096,15996400,15994914,15479893,14592559,14578033,14573785,14557872,14551154,14531916,14523451,14523329,14515183,14512389,14508198,14504875,14504098,14499592,14489469,12956845,12945887,12941034,12939270,12939269,12928694,12928685,12923451,12911579,12879654,12878585,12877676,12871600,12871361,12865818,12857557,12855811,12851538,12831060,12783117,12780409,12771861,12771857,12766367,12765295,12757770,12757241,12750382,12749008,12747590,12738509,12734676,12732212,12730108,12725641,12724616,12719795,12713146,12709363,12709053,12695749,12684661,12679134,12679024,12626602,12624627,12615788,12588872,12572596,12570104,12563219,12529766,12519104,12518110,12505789,12490286,12480694,12477932,12468767,12466191,12454577,12447960,12447958,12439145,12439143,12428084,12413582,12380673,12361205,12296757,12270302,12214157,12212242,12208422,12204058,12180730,12165293,12165282,12163491,12152677,12140089,12139755,12122980,12106474,12097536,12088785,12083504,12082592,12070052,12070020,12069454,12069144,12068020,12067473,12058364,12057926,12048131,12044337,12042290,12038788,12038778,12038776,12023853,12023846,12008943,12008938,11673296,11583312,11583311,11583310,11568114,11532625,11529632,11522740,11506076,11487023,11471205,11460008,11454529,11450488,11435632,11434686,11434083,11427721,11426488,11397354,11385320,11383586,11380448,11375993,11369682,11359462,11341749,11323021,11320983,11279932,11242801,11230792,11229520,11197244,11190900,11183183,11167771,11154146,11153741,11151062,11146461,11128675,11122096,11114134,11108900,11108898,11095555,11085290,11085288,11084577,11081681,11071624,11024046,11022077,11018168,10996659,10910914,10896248,10828960,10823824,10777524,10651742,10644723,17452895,17439630,17433691,17408404,17401546,17353498,17342369,17334934,17334933,17334320,17317888,17307838,17306151,17290027,17287626,17278618,17245631,17230042,17208341,17189319,17159337,17156138,17155964,17113632,17111197,17107352,17106650,17100732,17097210,17090840,17067362,17059428,17020886,17008978,17003923,17002658,17000243,16998292,16998285,16988555,16981886,16981704,16973976,16963292,16961585,16950672,16938111,16917913,16906320,16906235,16882823,16881367,16839569,16839353,16830369,16825912,16823828,16818854,16817853,16796711,16791607,15467917,15455078,15454250,15453833,15451770,15385813,15359390,15356875,15353918,15333035,15331602,15317594,15304039,15293282,15292803,15292227,15292065,15284075,15278388,15254687,15242552,15240970,15224376,15223011,15205587,15203717,15187864,15171737,15170396,15170393,15166939,15152000,15150075,15146467,15138112,15135449,15120696,10978167,14691232,16230340,1691280,1695900,17379830,18322950,19197197,19350119,19350129,19439413,19483084,19522744,19530705,19581306,19589779,19630796,19636003,19638274,19652200,19656282,19660184,19668753,19682239,19691831,19703820,19705255,19710606,19720979,19729601,19730248,19751194,19776610,19778528,19783216,19796528,19826759,19838435,19846563,19853891,19858193,19860767,19880506,19886238,19906129,19909951,19920886,19922437,19923980,19934566,19937485,19939360,19948975,19956635,19956845,19958090,19959486,19967163,20017223,20019774,20027027,20027028,20032510,20036902,20039103,20048104,20051285,20053992,20061396,20062917,20062924,20064497,20078877,20096005,20107738,20128871,20144172,20148880,20161734,20162297,20172331,20174725,20174756,20174767,20186013,20337781,20351233,20352152,20368522,20379305,20390230,20400894,20406709,20425806,20428919,20431849,20446941,20452482,20452800,20479641,20482605,20484876,20492466,20528875,20546854,8530382,8626514,9087410,9618465,20639195,20167556,20589323,20664909,20150433,20656333,20847307,20889971,20930172,20974933,20542544,20553951,20589316,20589321,20593110,20717043,20734064,20881312,20937743,20939248,20946152,21042205,21054877,21067798,21070754,21072525,21073356,21078611,21080081,21080082,18412778,18403391,18393757,18392325,18387982,18387978,18387654,18385289,18383370,18378576,18374141,18368843,18362344,18360788,18350352,18342628,18333414,18327410,18327399,18292407,18285537,18284606,18278189,18278182,18277167,18275512,18253477,18246466,18235909,18225686,18220034,18217158,18198180,18192106,18191809,18182035,18176672,18160602,18160601,18160589,18160588,18160576,18089851,18070829,18068170,18067862,18064331,18057060,18048360,18030173,18022930,18004208,18000611,18000604,17987287,17984931,17982733,17968311,17963764,17962622,17958740,17922809,17918782,17911197,17897305,17895505,17890946,17883702,12855810,2435757,10692450,1672265,19052258,9639571,9038223,7559487,7507931,2538457,2742826,2866798,12907439,14982929,14718574,3242619,2719946,19620700,19618008,19609209,19595110,19592474,19591822,19560472,19560187,19559392,19538716,19530321,19527514,19526440,19524925,19520684,19520681,19504051,19474699,19474452,19472214,19454280,19448164,19432826,19422815,19416890,19415820,19408824,19404534,19404532,19395327,19383345,19374152,19372095,19362088,19356951,19353312,19351827,19350131,19349859,19336475,19336437,19336370,19336355,19330709,19318721,19307088,19265041,19253755,19245802,19238444,19232683,19230252,19219640,19211580,19211287,19210273,19195685,19190829,19167867,19166692,19165673,19139080,19135623,19133039,19132231,19132204,19131662,19127083,19123042,19120368,19117968,19110485,19089657,19074424,19072566,19070828,19064572,19036071,19029633,19027114,19020747,19019335,19005247,18995885,18990707,18989528,18988801,18983518,18983501,18983490,18983482,18978274,18977990,18974842,18936436,18931510,18930220,18927526,18927445,18852482,18848323,18845284,18840629,18830030,18824942,18818748,18803625,18796457,18791166,18784085,18779330,18777205,18765660,18754836,18754285,18752569,18719872,18685435,18679139,18667434,18665919,18632446,18627609,18618228,18612544,18603540,18600083,18591179,18583164,18568463,18521504,18513389,18503143,18480081,18469551,18462012,18457169,18452260,18450742,18440754,18422961,18413297,17883698,17849049,17721328,17708272,17704111,17700999,17663729,17650440,17639874,17627684,17625574,17621506,17619828,17606451,17572893,17570509,17568659,17537363,17537362,17537304,17525392,17510305,17464285,17461935,17460706,17456629,17456626,17456624,15116266,15109703,15096570,14597244,11999002,11998221,11983337,11967197,11961379,11956584,11943932,11927130,11886391,11869940,11861279,11858502,11858489,11858488,11843387,11836168,11828266,11821270,11820731,11806787,11796824,11790575,11776315,11776313,11748101,11741359,11739968,11738388,11738073,11734673,11734671,11734663,11718704,11718065,11697722,11694407,11687574,11686329,11686320,11684560,11683190,11676542,16712791,20404340,20484050,19816721,20088940,20102484,20368337,20396790,20451499,20155436,20552683,20694011,20002542,20002544,20890897,21166500 1580340,1580362,1580342,1578508,2313852,2313862,2290183,2313851,1601108,1578509 2147 NG_008953,AC115088,AF478696,AF493953,AJ544114,CH471064,M17262,S50162,AJ972449,AK222775,AK222777,AK293326,AK303747,AK312965,AY344793,AY344794,BC051332,CB156997,CR594467,CR617821,DB183734,M33031,NM_000506,V00595,CS355181 NP_000497,AAL77436,AAM11680,CAD80258,EAW67977,EAW67978,EAW67979,AAC63054,AAB24476,CAJ01369,BAD96495,BAD96497,BAG56844,BAG64719,BAG35804,AAR08142,AAR08143,AAH51332,AAA60220,CAA23842,P00734,Q15253,Q16505,Q69EZ7,Q69EZ8,Q86WA1,Q8TD58,ACE87755,ACE87074,CAL24231 Hs.655207 PT prothrombin|prothrombin B-chain|serine protease protein-coding 735960 F2R coagulation factor II (thrombin) receptor Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. [provided by RefSeq] 1581033,1581034,1581035,1581036,1302269,728482,1580863 19567485,19913121,20506163,20571025,20585578,20628086,20691446,15452121,16102047,17706138,18983479,19064814,19307610,19379698,19460777,19538737,19608609,19622587,19679555,19690217,19694963,19703903,19764478,19795418,19858310,19879874,19895674,19907018,19929245,19969492,20056842,20084489,20101173,20164183,20175118,20236938,20237496,20140262,20826780,20155436,20442298,20559570,1851174,10477691,1672265,9038223,10692450,9701242,9639571,12761501,17848177,7961693,19424642,19404549,19332793,19162217,19080851,19064940,19053259,19040205,18988801,18974842,18832729,18820708,18687805,18682394,18612544,18570113,18537828,18386288,18384756,18372913,18363813,18314110,18308730,18284602,18278202,18179608,18174463,18089851,18064407,18005014,17935246,17895623,17883592,17823308,17721620,17675516,17623652,17492768,17470200,17414212,17384202,17376866,17374729,17373694,17347481,17323377,17303701,17294805,17267663,17015787,16952995,16946713,16839349,16837456,16803467,16709572,16606835,16409451,16407403,16359518,16354660,16354200,16341594,16194864,16141404,16087677,16052512,16021575,15923186,15891109,15878870,15869604,15860737,15821019,15769747,15755869,15707890,15626732,15625067,15582715,15563688,15561975,15559761,15550696,15548541,15522964,15489334,15455382,15383630,15313016,15280447,15247268,15191806,15183114,15099288,15078882,15045135,15023990,14982936,14966279,14961162,14642534,14632180,14623891,14521606,14507634,13680213,12975361,12883880,12832443,12805069,12789289,12737439,12707033,12637343,12594292,12586611,12563219,12534282,12522081,12505789,12477932,12406873,12372769,12370395,12195707,12084570,12058063,12052963,12039967,12023853,11986954,11964083,11907122,11888681,11816709,11278329,10978167,10922491,10644723,10583385,10391209,10079109,9207393,9102146,9058715,8982657,8955127,8824285,8621593,8395910,8395550,8290554,8136362,7834643,1310691,18657231,20404340,20368337,20230207,18577758,20482314 1581033,1581034,1581035,1581036,1302269,728482 2149 NM_001992,AC025188,AF054633,AF391809,CH471084,U35634,U63331,AK297131,AK308169,AK314202,AY771596,BC002464,BC016059,BC051909,BT007279,M62424,S76625 NP_001983,AAC25993,AAK69768,EAW95779,EAW95780,EAW95781,AAC50740,BAG59635,AAX11426,AAH02464,AAH51909,AAP35943,AAA36743,AAD14229,P25116,Q16292,Q2TNB2,Q6LCF1,Q71UT7,ABM86025,ABW03766 Hs.482562 CF2R|HTR|PAR-1|PAR1|TR OTTHUMP00000222020|coagulation factor II receptor|coagulation factor ii receptor|protease-activated receptor 1|proteinase-activated receptor 1|thrombin receptor protein-coding 733704 F2RL1 coagulation factor II (thrombin) receptor-like 1 Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL1 is also a member of the protease-activated receptor family. It is activated by trypsin, but not by thrombin. It is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. The F2RL1 gene contains two exons and is widely expressed in human tissues. The predicted protein sequence is 83% identical to the mouse receptor sequence. [provided by RefSeq] 1580863,735010 19567485,19913121,20628086,12874461,12867500,12832443,12805069,12792776,12754192,12630574,12604689,12540381,12534282,12527925,12506328,12506061,12479889,12477932,12397176,12372769,12370395,12195707,12171601,12139406,12123809,12003791,11907122,11714832,11692107,10978167,10831593,10439226,9639495,9446822,9133675,9020112,8784787,8703006,8601636,7937743,7568091,19144196,19080851,19074826,19064814,19032384,19023130,18983479,18949403,18937843,18854173,18832729,18622013,18482083,18474671,18424071,18308730,18305573,18277946,18196899,18179608,18077203,18047634,18028876,17854923,17845211,17727088,17699557,17693410,17675516,17675298,17623652,17591792,17581194,17571167,17470200,17452051,17405913,17384202,17373694,17347265,17328048,17205215,17203209,17203172,16925462,16820307,16714334,16691196,16650817,16525644,16498082,16478888,16476770,16470180,16410250,16359518,16336275,16195539,16096323,16095910,16091786,16079188,16027150,15905579,15882255,15879299,15869604,15843583,15809358,15665002,15654951,15585570,15537383,15492786,15489334,15489220,15482468,15475570,15280447,15140225,15102084,15010475,14767448,14760751,14657869,14585156,14519665,14507634,12925212,15452121,15708858,19263271,19269113,19478484,19536895,19543320,19546160,19558454,19561109,19621073,19631240,19675284,19684015,19694963,19781631,19795460,19815543,19852794,19858310,19881225,19889021,19958818,20124108,20193273,20198321,20224228,20237496,20926011,20826780,7556175,8615752,17991872,17848177,19494303,19368691,19264156,19247167,19242518,20388709,20131076,20530726,20588261,19184329,20412704,19930877,16754659 735010 2150 NM_005242,AC010621,AF400075,CH471084,U36753,Z49993,Z49994,AY336105,BC012453,BC018130,BT009856,DB463838,U34038,U67058,GM732522 NP_005233,AAK77914,EAW95782,AAA90957,CAA90290,AAP97012,AAH12453,AAH18130,AAP88858,AAB47871,P55085,Q53XJ8,ABM81892,ABM85065,CAV28807 Hs.154299 GPR11|PAR2 G protein-coupled receptor-11|G-protein coupled receptor 11|PAR-2|coagulation factor II receptor-like 1|protease-activated receptor 2|proteinase-activated receptor 2|proteinase-activated receptor-2|proteinase-activated receptor-2, g protein-coupled receptor 11|thrombin receptor-like 1 protein-coding 1348825 F2RL2 coagulation factor II (thrombin) receptor-like 2 Coagulation factor II (thrombin) receptor-like 2 (F2RL2) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL2 is also a member of the protease-activated receptor family and activated by thrombin. F2RL2 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL2 is a cofactor for F2RL3 activation by thrombin. It mediates thrombin-triggered phosphoinositide hydrolysis and is expressed in a variety of tissues. [provided by RefSeq] 1580863 19913121,20628086,20155436,20442298,1851174,10477691,9087410,17474147,18836030,18264801,17376866,17347481,16458856,16046705,15850610,15582715,15504554,15489334,15254234,14515192,14507634,12953056,12805069,12757837,12732212,12692840,12477932,12037136,11714832,11544528,11307827,10788464,10766244,10409227,10079109,9722561,9716134,9639495,9618465,9614115,16102047,17057644,19379695,19473969,19586901,19806263,8290554,20930172,19513616,19718071,20068591 2151 NM_004101,AC026725,AF374726,CH471084,AK312848,BC093648,BC093650,BC095499,BM989640,BX537386,U92971 NP_004092,AAK51564,EAW95778,BAG35701,AAH93648,AAH93650,AAH95499,CAD97628,AAC51218,O00254,Q4VBN6 Hs.42502 PAR3 Coagulation factor II receptor-like 2 (protease-actovated receptor 3)|PAR-3|protease-activated receptor 3|proteinase-activated receptor 3|proteinase-activated receptor-3|thrombin receptor-like 2 protein-coding 1351365 F2RL3 coagulation factor II (thrombin) receptor-like 3 Coagulation factor II (thrombin) receptor-like 3 (F2RL3) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL3 is also a member of the protease-activated receptor family. F2RL3 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL3 is activated by thrombin and trypsin. [provided by RefSeq] 1580863 1851174,10477691,10500152,9618465,10702240,19528350,19058300,19053259,18682394,18480058,18427961,18179608,17373694,17323377,16952995,16837456,15489334,15203717,15099288,15078882,15045135,14973136,14521606,13678420,12888878,12871418,12732212,12477932,12008957,12006403,11907122,11714832,10766244,10079109,9722561,9716134,20561531,8982657,20230207,20930172,20155436,19913121,20628086,16102047,19437337,19667088,20175118,8290554 9002 NM_003950,AC008737,AF384819,CH471106,AF055917,AF080214,AY431102,BC074782 NP_003941,AAK61908,EAW84566,AAC25699,AAC28860,AAR08487,AAH74782,Q96RI0 Hs.137574 PAR4 PAR-4|coagulation factor II receptor-like 3|protease-activated receptor-4|proteinase-activated receptor 4|proteinase-activated receptor-4|thrombin receptor-like 3 protein-coding 737354 F3 coagulation factor III (thromboplastin, tissue factor) This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. [provided by RefSeq] 2313861,2313865,2312381,2313859,2313863,2313868,2313869,2313862,1300308,1580863,1300309 19492160,19913121,20628086,20673868,20688968,17898544,17469850,3455766,18612547,7598447,17991872,2704749,19065458,3037536,2271516,3527261,8598903,10896200,19424642,19356953,19276228,19249541,19234141,19219655,19168442,19167313,19149969,19132232,19095643,19056482,19027114,19012190,19002040,18989544,18983524,18983503,18983492,18983479,18848323,18835104,18802362,18677291,18665928,18665396,18645927,18641355,18495150,18490736,18449421,18363812,18315555,18310227,18308368,18297283,18292391,18284603,18278454,18278195,18217146,18180609,18091328,18031796,18029910,18023707,18019946,18005233,18000605,17982314,17977694,17947506,17938822,17922809,17920661,17901245,17900273,17883595,17883594,17852460,17848177,17726162,17724132,17721619,17675290,17663729,17598015,17597988,17586694,17577783,17549302,17536017,17483700,18327399,17470200,17469034,17459125,17401435,17384202,17347408,17334638,17331567,17324918,17323935,17314141,17237436,17234207,17200764,17200762,17200119,17196206,17157899,17137581,17066404,17060476,17008590,16959886,16949034,16937466,16930953,16894464,16839353,16835245,16820938,16794185,16710414,16697385,16634740,16531802,16529959,16516912,16510984,16507316,16493499,16490369,16488980,16473535,16453151,16363246,16344560,16341674,16324758,16239598,16236262,16217771,16215234,16182846,16113838,16113798,16020745,15996056,15935832,15905465,12356487,12353085,12270558,12192302,12189027,12172458,12152682,12152652,12149215,12095134,12083501,12083487,12070020,12036889,12028585,12019261,12008961,11994566,11973337,11943929,11929768,11921018,11882315,11876644,11858480,11858185,11858183,11816709,11816707,11776298,11744662,11601848,11583305,11307801,10856975,9925787,9490735,9490681,9480775,9192667,8889548,8702971,8609606,8086403,7615158,4023720,3424286,3399965,3297348,3166978,2823875,2719931,2719077,2315317,1740409,392457,15182581,17939398,18508060,18642055,19091315,19105796,19167713,19290852,19350119,19359592,19500510,19515372,19541671,19545871,19558505,19561489,19572083,19578796,19583819,19592470,19597299,19604541,19628788,19631649,19661141,19750223,19795460,19806259,19817993,19828697,19843576,19861441,19904262,19914247,19923558,19958818,19966052,20061396,20062929,20103969,20113254,20133705,20142117,20185792,20227257,20237315,20237496,20452482,18846330,20601186,20930172,20140262,20589316,20628259,20605795,15892865,15869604,15865421,15860742,15842359,15835921,15814630,15630487,15604222,15562024,15494427,15489334,15467908,15328160,15304041,15252050,15242552,15213854,15213840,15161741,15154603,15117736,15041276,15034796,15034795,15016732,14961150,14756558,14750502,14738565,14678810,14675093,14675092,14610342,14597990,12941032,12920028,12903530,12883669,12871349,12787023,12654807,12652293,12603864,12544727,12540946,12529356,12514112,12477932,12426405,12408769,19428056,20388709,20138335,20149415,20149924,20153879,20156644,20163832,20171716,20189224,20933205,20224254,20434002,20434004,20434015,19856410,20150920,20553947,20616308,19995406 2313861,2313865,2312381,2313859,2313863,2313868,2313869,2313862,1300308,1300309 2152 NM_001993,A19048,AC093117,AF540377,CH471097,J02846,AF487337,AF497569,AF497570,AF497571,AK312638,AY940730,AY940731,BC011029,BM769013,BM981095,BT019808,CR541792,CR590388,DB203987,J02931,M16553,M27436,X07680,AK310918,AY940729,DB499288,NM_001178096 NP_001984,CAA01438,AAN01236,EAW73043,EAW73044,EAW73045,AAA61152,AAO61150,AAO61151,AAO61152,AAO61153,BAG35522,AAH11029,AAV38611,CAG46591,AAA61150,AAA61151,AAA36734,CAA30527,P13726,Q86SE7,Q86WH3,Q86WH4,Q8NCW7,ABM83681,NP_001171567 Hs.62192 CD142|FLJ17960|TF|TFA coagulation factor 3|thromboplastin|tissue factor protein-coding 1344593 F5 coagulation factor V (proaccelerin, labile factor) This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq] 1580361,1580362,1580372,1580373,2313874,2290183,1580130,1580340,1580863 19913121,20532885,20554945,20563311,20592675,20601540,20603034,20605623,20608153,20616326,20616539,20626623,20628086,20642359,20671880,20673868,20687780,20707729,20707730,20708329,20720309,20724652,20735725,20736749,20798492,20811787,18646302,18632446,18618228,18617648,18603540,18602910,18600097,18591887,18591179,18587009,18583164,18568463,18539144,18537629,18537263,18524690,18521504,18519572,18513389,18503143,18502757,18496379,18480081,18469551,18462012,18457169,18452260,18449423,18424440,18412778,18404788,18392325,18387982,18387978,18387654,18378576,18368843,18360788,18350352,18350351,18342013,18333414,18327399,18290335,18290319,18285537,18284606,18277167,18275512,18253477,18248600,18246466,18235909,18225686,18220034,18217158,18198180,18195191,18192108,18192106,18191809,18182036,18182035,18182032,18180619,18176672,18160617,18160602,18160601,18160599,18160589,18160588,18070829,18068170,18064331,18057060,18030499,18030173,18028481,18022930,18004208,18000607,17994314,17984931,17982733,17982311,17973648,17963764,17955280,17949476,17944989,17918782,17911197,17897305,17895505,17890946,17883698,17849062,17849061,17849060,17849041,17721328,17708272,17704111,17700999,17677000,17650440,17649708,17646160,17641719,17640947,17639874,17627684,17625574,17619828,17606451,17605877,17582472,17582408,17572893,17568659,17565236,17555744,17553804,17549437,17537363,17537362,17537304,17525392,17510305,17460706,17456629,17456626,17456624,17452895,17439630,17426795,17414217,17413905,17408404,17401546,17353498,17334320,17317888,17307838,17306151,17290027,17287628,17287626,17284699,17278618,17264942,17230042,17206678,17200768,17159337,17156138,17155964,17139368,17126308,17113632,17111197,17107352,17106650,17100732,17097210,17090840,17067362,17059428,17020886,17008978,17008284,17003923,17000243,19353312,19350131,19349859,19336437,19336370,19336355,19330709,19318721,19307088,19303627,19278955,19263529,19263510,19260108,19253755,19245802,19238444,19232683,19230252,19219640,19211580,19211287,19210273,19210038,19206005,19195685,19190829,19168828,19167867,19165673,19150531,19139080,19135623,19133039,19132231,19132201,19132190,19131662,19127083,19123042,19120368,19117968,19110485,19072566,19070828,19064610,19064572,19052695,19036071,19029633,19023521,19020903,19019335,19008959,19005247,19004141,18989519,18983518,18983501,18983490,18983482,18978274,18977990,18974842,18936436,18931510,18930220,18927445,18848323,18845284,18840629,18830030,18824942,18818748,18796457,18791166,18787277,18777205,18754836,18754285,18752569,18728029,18702875,18685435,18682947,18679139,18654780,9252393,2538457,3052293,6946465,14982929,14718574,19620700,19618008,19609209,19604111,19592474,19591822,19560472,19560187,19559392,19558686,19538716,19536175,19530321,19527514,19524925,19520684,19520681,19515723,19504051,19486170,19474699,19474452,19448164,19432826,19422815,19421222,19415820,19408824,19404532,19395327,19374152,19372095,19356951,15539375,15534175,15531855,15528884,15515881,15479893,15467293,15454250,15453833,15452129,15450391,15385813,15359390,15356875,15353918,15347660,15337738,15333035,15331602,15309526,15306751,15304039,15293282,15292803,15278388,15247984,15247980,15240970,15224376,15223011,15187864,15171737,15170396,15170393,15166939,15166921,15150075,15147718,15146467,15140126,15135449,15134454,15131548,15120696,15118525,15116266,15109703,15097012,15096570,15091001,15088159,15077257,15076187,15075078,15065883,15056097,15054398,15045132,15045131,15033664,15009459,15007309,15004010,15003896,14996674,14994919,14976057,14963283,14746952,14720616,14711617,14707415,14706682,14701945,14697963,14695241,14691564,14689680,11858477,11849222,11848454,11843387,11836168,11828266,11821292,11821270,11820731,11820306,11816705,11814362,11806843,11806787,11781222,11776341,11776127,11761087,11748101,11741359,11739968,11738388,11738073,11734673,11734663,11726323,11718065,11697722,11694407,11685046,11683190,11596779,11595480,11595479,11583312,11578716,11568114,11532625,11529695,11529632,11523408,11522740,11522037,11506076,11502996,11472046,11471205,11460958,11454529,11435632,11434083,11426488,11406725,11397354,11385320,11374681,11372668,11372667,11346337,11341749,11341494,11334615,11331645,11323021,11321143,11320983,11315119,11311153,11305729,11279932,11260012,11259157,11246546,11242801,11229520,11197244,11187029,11183183,11156651,11151062,11146461,11128675,11127862,11127850,11122103,11122102,11122096,11115343,11114134,11108900,11108898,11095555,11093465,11091190,11085290,11084577,11076863,11071624,11057878,11057877,11056246,11022077,11018168,11014961,10993493,10593904,14677182,14673478,14669613,14669168,14662632,14660667,14656900,14656739,14652651,14638877,14629466,14597978,14597977,14597244,14580166,14578033,14574075,14559913,14555316,14551147,14531916,14529318,14523329,14515183,14512389,14508198,14507111,14504875,14501610,12964021,12960604,12958611,12956845,12945887,12928694,12928685,12923451,12906030,12899665,12879654,12878157,12877676,12871600,12871356,12871325,12869495,12865283,12861956,12859287,12857557,12851538,12817161,12816860,12792424,12791034,12788947,12783110,12780409,12771861,12766367,12765305,12757770,12757640,12757241,12752105,12749008,12747593,12747590,12742330,12738785,12738509,12725641,12724616,12717434,12713146,12709363,12695749,12679134,12651267,12632020,12628278,12624627,12624626,12624624,12615788,12604422,12600914,12598443,12579498,12578864,12572596,12570104,12544728,12529766,12519104,10521265,10502835,10494770,10391209,10026263,9525959,9454742,9454741,9242537,9079657,9032460,8713778,8454869,8428962,8216224,8204629,8164741,7989361,7911873,7874144,7076681,3220473,3110773,3092220,2827731,2303476,2168225,1615482,1567832,9525969,9718313,15625834,18991406,19110300,19423540,19464002,19660184,19668081,19668753,19682239,19703820,19705255,19707467,19710606,19717029,19720979,19729601,19730248,19732941,19733287,19753526,19765210,19776610,19778528,19783216,19783545,19796528,19824427,19826759,19838435,19839754,19853891,19860767,19861681,19874463,19886238,19900106,19906129,19909951,19922437,19923980,19934566,19935026,19937485,19939360,19948975,19956635,19959486,19967163,20002540,20007547,20017223,20019774,20022357,20027027,20036902,20039103,20048104,20051285,20051843,20064497,20078877,20082208,20128871,20144172,20148880,20161734,20162297,20172331,20174725,20174767,20177282,20186013,20202226,20207250,20214832,20218141,20224595,20300981,20332763,20332812,20337781,20351233,20352152,20368522,20373031,20379305,20379614,20390230,20400894,20406709,20406964,20410502,20425806,20428919,20431849,20439118,20446941,20452482,20452800,20478113,20479641,20482605,20484876,20492466,20528875,20664902,20664909,21071689,20140262,20675997,20717043,20734064,20853144,20881312,20935614,20937743,20939248,20946152,20973399,21042205,21054877,21055512,21070754,21072525,21073356,21078611,21080081,20360208,16981886,16973976,16963292,16938111,16935856,16917913,16906320,16906235,16889993,16882823,16881367,16877827,16875034,16839569,16839353,16830369,16825912,16823828,16818854,16807645,16791607,16781765,16773503,16772740,16772736,16765424,16761446,16758522,16753154,16683219,16681418,16680739,16680712,16677567,16651869,16635210,16630215,16613994,16607075,16601831,16601830,16595080,16574759,16572609,16567932,16563366,16549163,16542711,16532157,16518527,16514238,16512831,16496494,16484835,16472842,16469858,16466010,16446869,16444434,16439508,16437692,16431900,16431184,16423600,16420563,16411392,16397131,16390788,16374139,12152677,12138364,12122980,12115343,12107410,12101832,12100159,12097536,12091346,12091344,12088785,12083504,12082592,12070000,12069454,12069143,12067913,12063259,12057557,12044337,12042290,12038802,12038778,12038776,12013685,12008938,11999002,11998221,11983337,11976977,11961379,11960573,11958494,11953127,11950065,11943934,11943931,11929802,11920167,11891805,11887980,11886391,11877263,11872951,11869940,11859850,11858502,11858490,16369102,16361766,16359589,16353042,16344560,16335952,16330459,16324093,16320685,16301860,16301339,16266408,16263699,16261289,16249980,16235188,16201098,16194196,16192348,16188774,16186475,16177630,16170289,16157382,16155788,16154434,16138347,16138341,16135581,16113830,16113792,16113789,16098865,16093732,16082606,16080493,16061406,16052395,16015421,16015408,16015153,16014310,16006096,15996400,15994914,15978566,15978104,15978097,15975136,15968394,15968383,15961511,15958894,15948766,15947552,15947551,15947254,15921597,15918665,15918268,15916503,15912114,15910861,15905108,15900364,15897196,15896772,15886801,15886665,15879922,15869586,15852745,15842353,15836797,15831156,15821810,15820946,15815078,15813553,15808373,15790048,15776863,15749685,15748245,15748243,15748232,15746660,15735794,15723247,15716659,15691154,15678277,15676177,15670517,15670066,15670043,15670037,15667542,15641797,15636441,15634288,15630502,15625161,15618258,15609280,15592740,15590403,15583744,15576297,15559724,15547928,12514663,12480694,12477932,12468767,12468175,12454577,12447960,12439143,12434659,12428084,12418950,12413582,12393635,12393556,12393490,12384508,12380673,12379114,12368162,12353074,12296757,12270302,12239164,12221665,12214157,12208422,12200374,12195688,12180730,12165290,12165282,12163491,12518110,10586886,16712791,20439754,19828176,20304467,20456758,20722419,20051284 1580361,1580362,1580372,1580373,2313874,2290183,1580130,1580340 2153 NG_011806,AF119360,AF285083,AY046060,AY136818,AY364535,CH471067,DQ019941,DQ357212,DQ357213,DQ357214,DQ377944,L32755,L32779,NM_000130,Z99572,AJ297254,AJ297255,AK226079,AK291613,AK300469,AU279657,CA395604,CB164139,CR626632,DB182033,M14335,M16967,M94010,DQ349066 NP_000121,AAF32515,AAG30113,AAL09164,AAN12307,AAQ55063,EAW90849,AAY85741,ABC96776,ABC96777,ABC96778,ABD23003,AAB59401,CAB16748,CAI23065,CAC82572,CAC82573,BAF84302,BAG62188,AAB59532,AAA52424,AAA52416,P12259,Q15430,Q1L610,Q2HZY9,Q2HZZ0,Q2HZZ1,Q8IUL1,Q8TD21,Q8WWQ7,Q9HB27,Q9P1A8,AAI11462,AAI11589,AAI11930,ABC75245,Q2I258 Hs.30054 FVL|PCCF OTTHUMP00000032548|activated protein c cofactor|coagulation factor V|coagulation factor V jinjiang A2 domain|factor V Leiden|proaccelerin, labile factor protein-coding 1345586 F7 coagulation factor VII (serum prothrombin conversion accelerator) This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Alternative splicing of this gene results in 2 transcripts. Defects in this gene can cause coagulopathy. [provided by RefSeq] 1601133,2312384,2312386,2312388,2312389,2312391,2312392,2312395,2312398,2312402,2312406,2312408,2290183,2312385,2312312,2312322,1625710,2312390,2312393,2312394,2312400,2312380,2312409,2312299,2312379,1304286,2312399,2312323,2312313,2312315,2312401,2312320,2312300,2312403,2312296,2312318,2312381,2312382,2312383,1598920,2312396,2312397,2312404,2312407,2312410,2312412,2312413,2312414,1580374,1580375,1580376,1580863 19913121,20532885,20536507,20589311,20628086,20673868,20735728,17008590,17003923,16948532,16914903,16882823,16839353,16835245,16807660,16687401,16676068,16614319,16596941,16580898,16556685,16543963,16532678,16529959,16510984,16472842,16363246,16353042,16344560,16331575,16292673,16236263,16204244,16194204,16116695,16100725,16091654,16049588,15978118,15968394,15968393,15952268,15893284,15869604,15842378,15842358,15837082,15835921,15735798,15718364,15711754,15634284,15634274,15632123,15621215,15616124,15613046,15604416,15590402,15543320,15469874,15456489,15452029,15386437,15351855,15351850,15339682,15304047,15213840,15175795,15173027,15170085,15081566,15057823,15016732,14963283,14766762,14756558,14750502,14746139,14733777,14691565,14592825,14521602,12941034,12935410,12903033,12888866,12871600,12871370,12871323,12859287,12851844,12787023,12768436,12738672,12676783,12616980,12615788,12579498,12529745,11470437,11397354,11334615,11129332,11091194,11044420,10984565,10877552,10862079,10692465,10544046,10430872,10419671,10391209,10026263,9925787,9819044,9692950,9576180,9242537,8883260,8844208,8652821,8647260,8576177,8364544,8242057,8204879,7989361,7981691,7974346,7860081,7814421,7559437,3487272,3486420,3264725,2511201,2248955,2129367,2070047,1904059,1634227,12506121,12486862,12482354,12446192,12428092,12428089,12358603,12356487,12208482,12152685,12152682,12151156,12141403,12135351,12091048,12083486,12082592,12038786,12019261,11943935,11931672,11920218,11916081,11858502,11858478,11279932,12477932,15174051,15182581,15735789,19432927,19524011,19536895,19559392,19560472,19578796,19587380,19615732,19652895,19729601,19751712,19778283,19781705,19904262,19953488,19958090,19959538,19996301,20036902,20059471,20086294,20107938,20149073,20161734,20213530,20231535,20332763,20351643,20364300,20452482,20140262,20508904,20589312,20589316,21057703,20044773,20153024,20153879,20156643,20156644,20163832,20227556,19601987,19686262,20651279,18977990,18976247,18974842,18927546,18818748,18766253,18690338,18642129,18640965,18612104,18608122,18556408,18513389,18473114,18457169,18433457,18403734,18398422,18325076,18292410,18292408,18284606,18267072,18253477,18220034,18182033,18180609,18156490,18064331,18031796,18030173,18000605,18000604,18000603,17938822,17938795,17903294,17901076,17890943,17883708,17880564,17849063,17692102,17675296,17663738,17606459,17596133,17581323,17488662,17470200,17459125,17456045,17440998,17403098,17384202,17327234,17292373,17287630,17202767,17200119,17092304,17059418,17048007,17044869,3455766,3037537,18612547,7598447,17991872,3527261,8598903,8639673,2271516,19527514,19479237,19474452,19415820,19404551,19404533,19387626,19336475,19323053,19263529,19238444,19167313,19150996,19131662,19019335,11848442,11776298,11698657,11593034,11562337,11560488,11555697,16712791,20466994,20197348,20388709,17018600,12524237,19822353,20586182,21099211 1601133,2312384,2312386,2312388,2312389,2312391,2312392,2312395,2312398,2312402,2312406,2312408,2290183,2312385,2312312,2312322,1625710,2312390,2312393,2312394,2312400,2312380,2312409,2312299,2312379,1304286,2312399,2312323,2312313,2312315,2312401,2312320,2312300,2312403,2312296,2312318,2312381,2312382,2312383,1598920,2312396,2312397,2312404,2312407,2312410,2312412,2312413,2312414,1580374,1580375,1580376 2155 NM_019616,NG_009262,AF466933,AL137002,AY212252,CH471085,DQ142911,EF445049,J02933,U14580,U40852,AI076552,AK298404,AK310779,NM_000131,AK311565,AK311682,AY423856,BC130468,CB156039,DB184045,EF421855,EU557239,M13232,CS355169 ADR83168,NP_000122,NP_062562,AAL66184,CAI41381,CAI41382,AAP33841,EAX09182,EAX09183,ABD17891,ACA06107,ACA06108,AAA51983,AAC50211,BAG60634,AAQ94106,AAI30469,ABN79862,ACB87203,AAA88040,AAA88041,P08709,Q6TDG2,Q9UMU6,CAL24227 Hs.36989 FVII coagulation protein|SPCA|coagulation factor VII|eptacog alfa|proconvertin|serum prothrombin conversion accelerator protein-coding 1346706 F7R coagulation factor VII regulator 3410461,6714981 2156 1343567 F8 coagulation factor VIII, procoagulant component This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq] 1580863,2290183,2312416,1582359,1582371,1582360,1582357 19913121,20589311,20609463,20628086,20015216,20028422,20236351,12201837,12199686,12195713,12154809,12091341,12058364,12041568,12036878,11864712,11858487,11857744,11848452,11848448,11830468,11799130,11769673,11748850,11739969,11737010,11722428,11673296,11574539,11554935,11442647,11442643,11410838,11396323,11391716,11341489,11298607,11278963,11128113,11122386,11091190,11057857,11027931,10910913,10910910,10896236,10886198,10800171,10691849,10612839,10554831,10521497,10404764,10350471,10338101,9886318,9834200,9829908,9792405,9759621,9603440,9569189,9569180,9525969,9450898,9341862,9326186,9305856,9218428,9029040,8759905,8698347,8644728,8639447,8449505,8322269,7893714,7794769,7759074,7728145,7620160,7613471,7579394,6438528,6438526,3935400,3134349,3122181,3013509,3012775,2987704,2896159,18612535,18600086,18549909,18535282,18521513,18515885,18503540,18495957,18492805,18481121,18479430,18459951,18457169,18435924,18424440,18419741,18403393,18400180,18388498,18388497,18387975,18371166,18371163,18337255,18327416,18299331,18292408,18277139,18217193,18217134,18217133,18184865,18179574,18166789,18162457,18160577,18064310,18034822,18024377,18000609,18000608,17973851,17958750,17958741,17944985,17927806,17916745,17890957,17849066,17848617,17846507,17823971,17786534,17680530,17650078,17636198,17610549,17502612,17498085,17498081,17445092,17349154,17342157,17334514,17287628,17209060,17119108,17116206,16956829,16953272,16953269,16894464,16894461,16839343,16823491,16805874,16786531,16769589,16732372,16628729,16601852,16601827,16569771,16513639,18634839,16487577,16380445,16339403,16335952,16270627,16128892,16102111,16088320,16042406,16086318,16038719,16020776,15996947,15946216,15921397,15913649,15886209,15869621,15824541,15810915,15735796,15735794,15710596,15705787,15682412,15670040,15660987,15634269,15550021,15471879,15459008,15456493,15353485,15304045,15236327,15213843,15202164,15073030,14961153,14764590,14722121,14717992,14684146,14675089,14644079,14629470,14629468,14521595,14517489,12969981,12958606,12930394,12871600,12871415,12857556,12768323,12719775,12719774,12717434,12617176,12615788,12614369,12578706,12574801,12567191,12522143,12477932,12428094,12426309,12412575,12406074,12368162,12358922,12351418,12325022,12220193,12204009,12203998,8275087,501196,8626656,14718574,2110473,19595998,19563499,19548904,19404535,19404520,19369668,19304336,19240027,19150994,19132238,19126539,19110358,19080683,19047063,18983511,18983499,18808737,18803625,18752578,18702107,18685438,18647227,2835904,2833855,2565080,2510835,2506948,2499363,2498882,2495245,2491949,2107542,2106480,2105906,2105106,2104766,1973901,1939075,1924291,1908817,1908096,1902642,1898735,1851341,1761551,1639429,1554716,1427887,1356412,1349567,1303178,1301960,1301932,1301194,17649711,18752533,19187187,19329212,19336741,19350126,19473408,19473423,19624762,19642360,19687511,19715469,19719548,19740093,19765210,19778283,19778945,19811836,19817879,19825912,19874476,20007547,20050928,20054547,20062922,20089867,20184747,20193250,20231535,20237496,20153025,20528906,20627205,21052611,20606161,21044367,21070499,20605782,7756647,20351306,20438774,20456758,20737444,21071930,20174619 2290183,2312416,1582359,1582371,1582360,1582357 2157 NM_019863,NG_005114,NG_011403,AC109993,AF081784,AF168366,AJ131818,AY769950,BX470111,BX842559,BX842564,BX890586,CH471172,DQ173562,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173598,DQ173599,DQ173600,DQ173601,DQ173602,DQ173603,DQ173604,DQ173605,DQ173606,DQ173607,DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,NM_000132,DQ173613,DQ173614,DQ173615,DQ173637,DQ173638,DQ173639,DQ173640,DQ173641,DQ173642,M88648,U80228,AK289947,AK292902,AK295164,AK307726,AK313707,BC022513,BC064380,BC098389,BC111967,BC111969,BI547023,K01740,M14113,DQ173616,DQ173617,DQ173618,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173631,DQ173632,DQ173633,DQ173634,DQ173635,DQ173636,HQ285726,X01179,M90707,GM871750 CAI95417,CAO03485,NP_000123,NP_063916,AAC32196,AAD50437,CAB40351,AAV85964,CAI41660,CAI41672,CAI41666,CAI43241,EAW72645,EAW72646,EAW72647,ABB58721,ABC25733,ABC25738,ABC25743,ABC25748,ABC25753,ABC25762,ABC25767,ABC25772,ABC25777,ABC25782,ABC25787,ABC25792,ABC25797,ABC25802,ABC25807,ABC25812,ABC25817,ABC25822,ABC25827,ABC25837,ABC25842,ABC25952,ABC25957,ABC25962,ABC25967,ABC25972,ABC25977,ABC25982,AAA52420,AAB61261,BAF82636,BAF85591,BAH11996,BAG36452,AAH22513,AAH64380,AAH98389,AAI11968,AAI11970,AAA52484,ABC25852,ABC25857,ABC25862,ABC25867,ABC25872,ABC25877,ABC25882,ABC25887,ABC25892,ABC25897,ABC25902,ABC25907,ABC25912,ABC25917,ABC25922,ABC25927,ABC25932,ABC25937,ABC25942,ABC25947,ADO65752,AAA58466,CAA25619,A0A2G2,A0A2G3,A0A2G4,A0A2G5,A0A2G6,A0A2G8,A0A2G9,A0FJ18,A0FJ19,A0FJ20,P00451,Q003U9,Q003V0,Q003V2,Q003V3,Q003V4,Q003V5,Q003V6,Q003V7,Q003V8,Q003V9,Q003W0,Q003W2,Q06DL6,Q06DL7,Q06DL8,Q06DL9,Q0GE96,Q14286,Q2VF45,Q71UI6,Q9UMZ8,Q9UQQ5,AAI66700,CAO03404,ABC25832,ABC25847,AAA52485,CAV28538 Hs.654450 AHF|DXS1253E|F8B|F8C|FVIII|HEMA antihemophilic factor|coagulation factor VIII|coagulation factor VIIIc|factor VIII F8B protein-coding 1342562 F8A1 coagulation factor VIII-associated (intronic transcript) 1 This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq] 18419747,18299331,16513639,16482509,16381901,15687285,15489336,15489334,15009463,12477932,11256614,11076863,11035034,8528212,2110545,1639415,1427887,19913121,20628086 8263 NM_012151,NG_005114,AY619999,BX842559,CH471172,M34677,X86012,AL556125,BC039693,BC071963,CR598080,CR599867,CR599936,CR602309,CR602783,CR603094,CR615103,CR617701,CR621707,CR621827,CR623398,CR624283 NP_036283,AAT44606,CAI41669,EAW72648,AAA35713,AAH39693,AAH71963,P23610,CAL38350,CAL38611,ABM87666 Hs.533543,Hs.593687 DXS522E|F8A|F8A2|F8A3|HAP40 cpG island protein|factor VIII associated protein|factor VIII intron 22 protein|huntingtin-associated protein 40 protein-coding 1346624 F8A2 coagulation factor VIII-associated (intronic transcript) 2 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq] 15687285,8528212 474383 NM_001007523,NG_005114,AY620000,BX682237,CH471172,BC039693,BC071963,CR598080,CR599867,CR599936,CR602309,CR602783,CR603094,CR615103,CR617701,CR621707,CR621827,CR623398,CR624283 NP_001007524,AAT44607,CAI41333,EAW72648,AAH39693,P23610,AAI72273,AAH71963 Hs.593687 F8A1|F8A3 cpG island protein|factor VIII intron 22 protein protein-coding 1349354 F8A3 coagulation factor VIII-associated (intronic transcript) 3 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq] 11256614,15687285,8528212 474384 NM_001007524,NG_005114,AY620001,CH471172,BC039693,BC071963,CR598080,CR599867,CR599936,CR602309,CR602783,CR603094,CR615103,CR617701,CR621707,CR621827,CR623398,CR624283 NP_001007525,AAT44608,EAW72648,AAH39693,AAH71963,P23610,AAI56293 Hs.533543,Hs.593687 F8A1|F8A2 cpG island protein|factor VIII intron 22 protein protein-coding 735620 F9 coagulation factor IX This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq] 2290183,2312416,1300357,1580376,1300310,1580863 19913121,20628086,11830468,11754413,11754103,11736930,11583320,11396323,11278963,11133752,11122405,11122099,10698280,10467148,10391209,10094553,9834200,9655178,9600455,9590153,9222764,9047312,8855310,8833911,8680410,8663165,8392713,8295821,8257988,8236150,8199596,8172892,8076946,7987222,7981722,7713897,7606779,7547952,6959130,6688526,6687940,6603618,6425296,6329734,6320191,6287289,6089357,3857619,3790720,3416069,3401602,3340835,3243764,3009023,2994716,2875754,2775660,2773937,2753873,2743975,2738071,2472424,7598447,8626656,14718574,2110473,19416882,19404534,19357501,2713493,2592373,2511201,2372509,2352926,2339358,2248955,2162822,2129367,2040636,1958666,1902289,1854745,1634040,1615485,1517205,1346975,1304885,922557,659613,237463,19617576,19656280,19699296,19817987,20128871,20346360,20004170,20539913,20628058,19286883,19262239,19158249,19047063,18647957,18624698,18600094,18459950,18449417,18434706,18393396,18293119,18192270,18179572,18029348,17985356,17882724,17563121,17414217,17397055,17308903,17230038,17048007,17014892,16939230,16839351,16766524,16517611,16322469,16102111,15921378,15913649,15866866,15842381,15829482,15772651,15643612,15634274,15590401,15581349,15489334,15456490,15383460,15328360,15326167,15219198,15183040,15039440,15009460,14963035,14722079,14660587,14629468,14567539,14532267,14521595,12871503,12871416,12824704,12768436,12604421,12588353,12570162,12522212,12522143,12513796,12496253,12477932,12192300,12167623,12152682,12105230,12070021,12036878,11925427,11891231,2714791,19930472 2290183,2312416,1300357,1580376,1300310 2158 DQ431828,DQ431829,DQ431830,DQ431831,DQ431832,DQ431833,DQ431834,DQ431835,DQ431836,DQ431837,DQ431838,DQ431839,DQ431840,K02053,K02402,M19063,S66752,S68634,X55008,AB186358,AK292749,BC109214,BC109215,J00136,J00137,M11309,M35672,DQ431827,A13997,DQ431781,DQ431782,DQ431783,DQ431784,DQ431785,DQ431786,DQ431787,DQ431788,DQ431789,DQ431790,DQ431791,DQ431792,DQ431793,DQ431795,DQ431796,DQ431797,DQ431798,DQ431801,DQ431802,DQ431803,DQ431804,DQ431805,DQ431806,DQ431807,DQ431808,DQ431809,DQ431810,DQ431811,DQ431812,DQ431813,DQ431814,DQ431815,DQ431816,DQ431817,DQ431818,DQ431819,DQ431820,DQ431821,DQ431822,DQ431823,DQ431824,DQ431825,DQ431826,NG_007994,A01819,A07407,A14017,AF486577,AF536327,AL033403,AL645665,AY226143,AY269424,AY269425,CH471150,DQ431774,DQ431775,DQ431776,DQ431777,DQ431778,DQ431779,NM_000133,DQ431780,CS355175 ABF69016,ABF69017,ABF69018,ABF69019,ABF69020,ABF69021,ABF69022,ABF69023,ABF69024,ABF69025,ABF69026,ABF69027,ABF69028,ABF69029,AAA56822,AAB59620,AAA52456,AAB28588,AAB29758,CAB38245,BAD89383,BAF85438,AAI09215,AAI09216,AAA98726,AAA52763,AAA52023,AAA51981,P00740,Q14316,Q19UG1,Q19UG2,Q19UG3,Q19UG4,Q19UG5,Q19UG6,Q19UG8,Q19UG9,Q19UH5,Q19UH6,Q19UH8,Q19UH9,Q19UI1,Q19UI2,Q19UI3,Q19UI4,Q19UI5,Q19UI6,Q19UJ0,Q19UJ1,Q19UJ4,Q19UJ5,Q19UJ6,Q19UJ7,Q19UJ9,Q19UK0,Q19UK3,Q19UK4,Q19UK5,Q19UK6,Q19UK8,Q19UK9,Q19UL0,Q19UL1,Q19UL3,Q19UL5,Q19UL6,Q19UL8,Q19UM0,Q19UM1,Q19UM2,Q5FBE1,Q7Z7N0,Q7Z7N1,Q86XR9,CAA01140,AAI46407,ABF68970,ABF68971,ABF68972,ABF68973,ABF68974,ABF68975,ABF68976,ABF68977,ABF68978,ABF68979,ABF68980,ABF68981,ABF68982,ABF68984,ABF68985,ABF68986,ABF68987,ABF68990,ABF68991,ABF68992,ABF68993,ABF68994,ABF68995,ABF68996,ABF68997,ABF68998,ABF68999,ABF69000,ABF69001,ABF69002,ABF69003,ABF69004,ABF69005,ABF69006,ABF69007,ABF69008,ABF69009,ABF69010,ABF69011,ABF69012,ABF69013,ABF69014,ABF68969,NP_000124,CAA00205,CAA00665,CAA01141,AAM96188,CAI42103,AAO73937,AAP34372,AAP34373,EAW88431,EAW88432,EAW88433,EAW88434,ABF68963,ABF68964,ABF68965,ABF68966,ABF68967,ABF68968,ABF69015,CAL24229 Hs.522798 FIX|HEMB|MGC129641|MGC129642|PTC Christmas factor|coagulation factor 9|coagulation factor IX|coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)|factor 9|plasma thromboplastic component|plasma thromboplastin component protein-coding 1318772 FA2H fatty acid 2-hydroxylase Sphingolipids are a large class of lipids found in all eukaryotic cells and are involved in numerous cellular processes. The structural diversity of sphingolipids stems from more than 300 distinct head groups, as well as from modifications of the hydrophobic ceramide moiety. FA2H catalyzes a common modification of the ceramide moiety: hydroxylation at the 2 position of the N-acyl chain. Sphingolipids containing 2-hydroxy fatty acid are common in nervous and epidermal tissue. Glycosphingolipids containing a high proportion of 2-hydroxy fatty acid are critical components of myelin, and several very long chain ceramides with 2-hydroxy fatty acids are important for the permeability barrier function of epidermis (Alderson et al., 2004 [PubMed 15337768]).[supplied by OMIM] 737633 18463364,20104589,19068277,17355976,16713569,12477932,15337768,16344560,19834535,19844255,20379614 737633 79152 NM_024306,AC004685,AC009132,CH471114,AJ278219,AK058016,AK303878,AK315512,BC002679,BC004263,BC010453,BC017049,AA857184,DA890369,NG_017070 NP_077282,AAC23496,EAW95677,EAW95678,CAC20436,BAB71632,BAH14072,BAG37893,AAH02679,AAH04263,AAH17049,Q7L5A8 Hs.461329 FAAH|FAH1|FAXDC1|FLJ25287|SCS7|SPG35 fatty acid 2-hydroxylase|fatty acid alpha-hydroxylase|fatty acid hydroxylase domain containing 1|spastic paraplegia 35 (autosomal recessive) protein-coding 737052 FAAH fatty acid amide hydrolase This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq] 1625726,1300311,1625741,1580863 19913121,20015515,20102775,20628086,20631561,20716455,10431820,9122178,19193342,19165169,19103437,19095868,19086053,19053981,19014633,19002671,18819056,18805581,18705688,18566995,18497731,18493729,18295974,18068305,17991615,17962356,17712725,17621164,19419760,19659925,19801960,19859057,19874574,19890266,19958092,20010552,20010914,20044928,20054193,20056290,20065978,20080186,20098695,20099163,20189896,18029348,20976246,21037510,20369362,17449448,17290447,17216208,17065342,16972078,16710414,15809662,15721218,15489334,15254019,15219977,14657172,12799380,12665801,12556536,12477932,12153574,12060782,12008024,11818522,11390466,11352748,10806398,10788462,10036136,9878243,9871570,9822713,9790682,17553686,20808855 1625726,1300311,1625741 2166 NM_001441,NG_012195,AF098019,AL122001,AY842444,AL050372,BC034478,BC093632,BC110404,BC111941,BG718115,CR611548,CR612908,U82535 NP_001432,AAD13768,CAI21960,AAV88095,CAB62530,AAH93632,AAI10405,AAI11942,AAB58505,O00519,Q9UG55 Hs.720143 FAAH-1|MGC102823|MGC138146 anandamide amidohydrolase 1|fatty-acid amide hydrolase 1|oleamide hydrolase 1 protein-coding 1603557 FAAH2 fatty acid amide hydrolase 2 Fatty acid amide hydrolases, such as FAAH1 (FAAH; MIM 602935) and FAAH2, hydrolyze primary fatty acid amide substrates (e.g., oleamide) and may play a role in fatty acid catabolism (Wei et al., 2006 [PubMed 17015445]).[supplied by OMIM] 19926788,19095868,17015445,16344560,14702039,12477932 158584 NG_013232,NM_174912,AL590394,AL606754,AL928898,CH471154,Z83745,AF086253,AK055766,BC048279,BC073922,BX110322,DA392815,EU285560 NP_777572,CAI40731,CAI40852,CAH71179,EAW93245,CAI42802,BAB71007,AAH48279,AAH73922,ABZ79724,Q6GMR7 Hs.496205,Hs.727716 AMDD|FAAH-2|FLJ31204|RP11-479E16|RP11-479E16.1 amidase domain containing|amidase domain-containing protein|anandamide amidohydrolase 2|fatty-acid amide hydrolase 2|oleamide hydrolase 2 protein-coding 736881 FABP1 fatty acid binding protein 1, liver FABP1 encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP1 and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq] 1626441,1626440,1580863 19913121,20550918,20628086,9250612,19435794,19330863,19217864,19019918,18838948,18660489,18506375,18094680,17826730,17698986,17605029,17526850,17485234,17428383,17003471,16945373,16772708,16249547,16175609,15547295,15489334,15308127,15249972,14563446,12646418,12477932,12121132,11461829,11354243,11226238,10684629,9688651,9070383,8232272,7784447,3838313,3838309,3012800,2824476,1699834,19441025,19499240,19622156,20416077,20185732,20575163 1626441,1626440 2168 NM_001443,AC092836,CH471215,BC022287,BC032801,CR542090,CR590669,CR612744,M10050,M10617 NP_001434,AAX88905,EAW77075,EAW77076,AAH22287,AAH32801,CAG46887,AAA52418,AAA52419,P07148,Q05CP7,Q6FGL7 Hs.380135 FABPL|L-FABP fatty acid binding protein 1|fatty acid-binding protein 1|fatty acid-binding protein, liver|liver-type fatty acid-binding protein protein-coding 1346124 FABP10 fatty acid binding protein 10 337952 AF254642 2302158 FABP12 fatty acid binding protein 12 18786628,16421571,12477932 646486 NM_001105281,AC023644,AX785165,AX785168,CH471068,BC146973,BC146981,EU733650 NP_001098751,CAE11956,CAE11957,EAW87093,AAI46974,AAI46982,ACI03640,A6NFH5 Hs.586370 Probable fatty acid-binding protein ENSP00000353650|fatty acid binding protein ORF|fatty acid-binding protein 12|intracellular fatty acid-binding protein FABP12 protein-coding 735842 FABP2 fatty acid binding protein 2, intestinal The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Intestinal fatty acid-binding protein 2 gene contains four exons and is an abundant cytosolic protein in small intestine epithelial cells. This gene has a polymorphism at codon 54 that identified an alanine-encoding allele and a threonine-encoding allele. Thr-54 protein is associated with increased fat oxidation and insulin resistance. [provided by RefSeq] 1578456,1578455,1626400,1578458,1578457,1626401,1626413,1626412,1626407,1626414,1300312,1582392,1300313,1300314,1580863 19913121,20565774,20578207,20621703,20628086,20673868,20723947,17447159,17428383,17383953,17343826,17310796,17292994,17212611,17211557,17209184,17143557,16945373,16919542,16908951,16809903,16733910,16718632,16718625,16679929,16289894,16276364,16249461,16013194,16002819,15869758,15776585,15764642,15620432,15598690,11385507,11299043,11288045,10946885,10856711,10070036,9806794,9250601,9204553,8954037,8454101,8401509,3838313,2263509,2193826,1740333,15527447,15489334,15177133,15159243,15135268,15135251,14981227,14686962,14666368,14650352,14605999,14567680,14563446,12899384,12855223,12809489,12691171,12634920,12477932,12377750,12370850,12189904,12161503,12079887,11866034,11730822,11707533,11699048,11606480,11555846,11423496,15547295,19288030,19439328,19499240,19578796,19689066,19689828,19878569,19948975,19961041,20047744,20080390,20202768,20308031,20329566,20332099,20384434,20413122,20416077,20452482,20484485,20534879,2824476,7883976,19491387,19475463,19384318,19367093,19324445,19282863,19156719,19056482,19023099,18824579,18701184,18660489,18634911,18506375,18440731,18422024,18282109,18280114,18201778,18065580,17992640,17975119,17960769,17921407,17914506,17907115,17684408,17633563,17605029,17594477,17512303,15572430,17207965,21079390 1578456,1578455,1626400,1578458,1578457,1626401,1626413,1626412,1626407,1626414,1300312,1582392,1300313,1300314 2169 NM_000134,AC092656,CH471229,M18079,AK025079,BC069466,BC069617,BC069625,BC069637,BC111791,NG_011444 NP_000125,EAW73666,AAA52417,AAH69466,AAH69617,AAH69625,AAH69637,AAI11792,P12104,ADQ32865 Hs.282265 FABPI|I-FABP|MGC133132 fatty acid binding protein 1|fatty acid-binding protein 2|fatty acid-binding protein, intestinal|intestinal-type fatty acid-binding protein 2289563 BW441_H protein-coding 69087 FABP3 fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. [provided by RefSeq] 2307331,2307330,2307328,1578459,1582401,1580863 19913121,20628086,20677014,20691835,20821366,3421901,7962070,18660489,18469019,18460953,18437121,18412949,18256058,18159110,18021874,17826730,17721027,17428383,17289870,16710414,16429158,15489334,15459486,15068254,12872269,12721663,12477932,8661024,8326460,8262516,7922029,7757968,7691977,7498159,2266970,2266954,2040092,1710107,1526991,16169070,18571749,19552571,19554614,19576209,19596235,20057506,20468064,20457766,20391015,20709047,20802519 2307331,2307330,2307328,1578459,1582401 2170 NM_004102,AL451070,CH471059,U17081,U57623,AI494244,AK314122,BC007021,BT006727,CR456867,S67314,X56549,Y10255 NP_004093,CAH71850,EAX07618,EAX07619,AAC99800,AAB02555,BAG36813,AAH07021,AAP35373,CAG33148,AAB29294,CAA39889,CAA71305,P05413,Q6IBD7,ABM84080,ABM87448 Hs.657242 FABP11|H-FABP|MDGI|O-FABP Fatty acid-binding protein 3, muscle|M-FABP|fatty acid binding protein 11|fatty acid binding protein 3|fatty acid-binding protein, heart|heart-type fatty acid-binding protein|mammary-derived growth inhibitor|muscle fatty acid-binding protein protein-coding 1346986 FABP3P2 fatty acid binding protein 3, pseudogene 2 9256083 56677 NG_001286,AL136527,AL138703,U72237 FABP3-ps|FABP3P pseudo 733453 FABP4 fatty acid binding protein 4, adipocyte FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq] 737747,1625411,1625407,1625406,1625408,1580863 19913121,20628086,16169070,18029348,18657008,18710473,19421706,19573524,19608978,19615732,19625659,19842034,19844814,19911253,20009357,20111020,20156355,20413122,20870707,20231079,20587710,2481498,17353931,16130169,19368945,19197257,19181913,19115207,19001529,18996102,18820256,18660489,18564921,18535557,18437151,18421072,18417367,18024526,17826730,17553506,17535427,17428383,17425064,17396233,17322100,16952017,16750515,16641093,16313911,15734831,15489334,15456755,15168018,15015141,12477932,12417276,10318917,9204877,9070383,8463311,7784447,1648089,1304913,20388924,20193950,21106915 737747,1625411,1625407,1625406,1625408 2167 NM_001442,AC018616,CH471068,BC003672,BQ880795,BT006809,CD000452,CR456903,J02874,HQ384160 NP_001433,EAW87092,AAH03672,AAP35455,CAG33184,AAA51689,P15090,ADU05469 Hs.391561 A-FABP|aP2 AFABP|ALBP|adipocyte lipid-binding protein|adipocyte-type fatty acid-binding protein|fatty acid binding protein 4|fatty acid-binding protein 4|fatty acid-binding protein, adipocyte protein-coding 736313 FABP5 fatty acid binding protein 5 (psoriasis-associated) This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. The human genome contains many pseudogenes similar to this locus. [provided by RefSeq] 1580863 20040021,16806233,16759896,15592455,15489334,15335354,12665801,12477932,12049637,11113456,10493790,10331666,10191275,17428383,9438903,9373149,9285630,8947466,8726632,8427590,8125298,1286667,17353931,19339807,19554614,19861119,20057506,8092987,12839573,1512466,16130169,19337991,18729184,18360704,20424164,19434059,20833513 2171 HQ384161,NM_001444,AC009902,CH471068,AK226036,AK311856,BC019385,BC070303,BT007449,M94856 ADU05470,NP_001435,EAW87088,BAG34797,AAH19385,AAH70303,AAP36117,AAA58467,Q01469,ABM82211,ABM85396 Hs.408061 E-FABP|EFABP|PA-FABP|PAFABP OTTHUMP00000166022|epidermal-type fatty acid-binding protein|fatty acid binding protein 5, epidermal|fatty acid-binding protein 5|fatty acid-binding protein, epidermal|psoriasis-associated fatty acid-binding protein homolog protein-coding 1352996 FABP5L1 fatty acid binding protein 5-like 1 (pseudogene) 387934 NG_006997,AL354720 FABP5|FABP5L1 pseudo 2301483 FABP5L10 fatty acid binding protein 5-like 10 9847074 344332 NG_008710,AC018731 FABP5L10 pseudo 1344672 FABP5L11 fatty acid binding protein 5-like 11 (pseudogene) 266699 NG_002376,AP000547 FABP5L11|FABP5P1 pseudo 2303313 FABP5L12 fatty acid binding protein 5-like 12 9847074 100270673 NG_009509,AC093700 FABP5L12 pseudo 1345237 FABP5L2 fatty acid binding protein 5-like 2 729163 NG_009322,AL138821 FABP5L2 pseudo 1347750 FABP5L3 fatty acid binding protein 5-like 3 (pseudogene) 12853948 220832 NR_002935,AC005631,CR621082 A8MUU1 Hs.647108 FABP5L3 fatty acid binding protein 5-like 3 pseudo 1346394 FABP5L4 fatty acid binding protein 5-like 4 404766,404766 AL163537,NG_027928 FABP5L4 pseudo 1349159 FABP5L5 fatty acid binding protein 5-like 5 404767,100288964 AC008592,NG_027896 FABP5L5 pseudo 1353302 FABP5L6 fatty acid binding protein 5-like 6 100130687 NG_008825,AC010409 FABP5L6 pseudo 1343684 FABP5L7 fatty acid binding protein 5-like 7 728641 NG_009321,AP000640 FABP5L7 pseudo 2301269 FABP5L8 fatty acid binding protein 5-like 8 728729 NG_009324,AC024270 FABP5L8 pseudo 2298929 FABP5L9 fatty acid binding protein 5-like 9 642956 NG_009323,AC104046 FABP5L9 pseudo 737077 FABP6 fatty acid binding protein 6, ileal This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,9250612,7588781,17909007,17266179,16951225,16237211,15936983,15489334,14702039,14654244,12486725,12477932,10806391,10514450,8805562,8527237,7894165,7619861,19744871,17207965 2172 AI208231,BC022489,DQ132786,U19869,X90908,NM_001130958,NM_001040442,NM_001445,AC008609,AC112191,AJ250902,AJ276802,CH471062 EAW61566,AAH22489,ABA12611,AAB82751,CAA62415,P51161,Q8IUB1,NP_001124430,NP_001035532,NP_001436,CAB65728,CAC81780,EAW61563,EAW61564,EAW61565,ADQ32819 Hs.519719 I-15P|I-BABP|I-BALB|I-BAP|ILBP|ILBP3|ILLBP GT|fatty acid binding protein 6|fatty acid-binding protein 6|gastrotropin|ileal bile acid binding protein|ileal lipid-binding protein|illeal lipid-binding protein|intestinal 15 kDa protein|intestinal bile acid-binding protein protein-coding 1353760 FABP7 fatty acid binding protein 7, brain The protein encoded by this gene is a brain fatty acid binding protein. Fatty acid binding proteins (FABPs) are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs are thought to play roles in fatty acid uptake, transport, and metabolism. [provided by RefSeq] 1580863 19540848,19554614,19587692,19608352,19622156,20057506,9375786,9250612,18826602,18593473,18391847,17898869,17646957,17428383,17415524,16623952,15900300,15827123,15489334,14702039,14574404,12975368,12771203,12612091,12479569,12477932,10854433,10497880,9591779,9242429,8833192,8798739,19590950 2173 NM_001446,AL645811,CH471051,AI879148,AJ002962,AK091664,AK289836,AK311867,AL512688,AW156936,BC012299,BI860090,CR457057,D50373,D88648,U51338,U81235,GM675548 ABM85539,ABW03402,NP_001437,CAI15448,CAI15449,EAW48165,EAW48166,EAW48167,CAA05773,BAF82525,BAG34808,CAC21646,AAH12299,CAG33338,BAA23324,BAA23645,AAB87141,AAD00507,O15540,Q9H047,ABM82363,CAV33163 Hs.26770 B-FABP|BLBP|DKFZp547J2313|FABPB|MRG brain lipid binding protein|brain lipid-binding protein|brain-type fatty acid-binding protein|fatty acid-binding protein 7|fatty acid-binding protein, brain|mammary-derived growth inhibitor related|mammary-derived growth inhibitor-related protein-coding 1343200 FABP9 fatty acid binding protein 9, testis 634410 7958448,10318917,18803274,18950845 634410 646480 NM_001080526,AC018616,CH471068,DQ821473 NP_001073995,EAW87091,ABG49443,Q0Z7S8,AAI52781 Hs.653176 PERF|PERF15|T-FABP TLBP|fatty acid-binding protein 9|lipid-binding protein|testis lipid binding protein|testis lipid-binding protein|testis-type fatty acid-binding protein protein-coding 1345195 FADD Fas (TNFRSF6)-associated via death domain The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq] 2292150,1580863,4143170,4143196,4143171 20420860,7538907,7536190,14644197,11101870,12761501,18029348,8681376,9721089,10894160,12887920,19364499,19362094,19118384,19074885,18840411,18813792,18632964,18632871,18174230,17977957,17975136,17911615,17656375,17511679,17235653,17031492,16937440,16871589,16844082,16762833,16710361,16538383,16528386,16450001,16410793,16339514,16289096,16258269,16227629,16177127,16127453,16109772,16061179,16006552,16003390,15956881,15916534,15849201,15778222,15688372,15645452,15601308,15489334,15485835,15452120,15452117,15383280,15280356,10848577,10825539,10640736,10493725,10442631,10235259,9990010,9774341,9582077,9521326,9430227,9215629,9208847,9045686,9037025,8967952,8955195,8565075,11741985,15659383,9325248,9082980,19060883,9228018,9560245,9326610,11854271,8906799,16169070,15782135,15761471,15665818,12796506,11112409,20438666,20484047,16360037,21109225,15207703,15173180,15034549,14573612,12954630,12911633,12851487,12815462,12721308,12702765,12702723,12684039,12604344,12499380,12496482,12482751,12477932,12235128,12220669,12198154,12196516,12122017,12107169,12037669,11975981,11965497,11877464,11859150,11828002,11805265,11753396,11752160,11740202,11739185,11717445,11395500,11376335,11353862,11034606,11002422,10911999,10880445,11048727,14694156,16498403,17159907,17290218,18328427,18485876,19303913,19336038,19453261,19524513,19557578,19573080,19583773,19773279,19955841,20070122,20353946,20568250,20802294,20943999,21048031,21115735,19415536,20588308,20040024 2292150,4143170,4143196,4143171 8772 NM_003824,AP000879,CH471076,DQ449938,U62022,U74301,AI886015,AK291005,AL575732,AY423721,BC000334,BC025733,BT006927,CR456738,CR591208,CR593101,CR593331,CR595812,CR596013,CR599691,CR600474,CR605817,CR607000,CR608391,CR610334,CR615437,CR616686,CR621957,U24231,X84709,NG_027966 NP_003815,EAW74760,EAW74761,EAW74762,ABD96828,AAB58469,AAB58483,BAF83694,AAS00484,AAH00334,AAP35573,CAG33019,AAA86517,CAA59197,Q13158,Q6LCB0,Q6LCG1,ABW03636 Hs.86131 GIG3|MGC8528|MORT1 FAS-associated death domain protein|Fas-associating death domain-containing protein|Fas-associating protein with death domain|growth-inhibiting gene 3 protein|mediator of receptor induced toxicity|mediator of receptor-induced toxicity|protein FADD protein-coding 1344024 FADS1 fatty acid desaturase 1 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq] 1625415,1625413,1625421 19750004,19776639,19809313,20037589,20045144,20060505,20081858,20185807,20335541,20364269,20385826,20395685,20419449,20427696,20484448,20339536,20694148,16303743,14702039,12477932,10860662,10769175,9445487,9373149,9110174,8619474,8125298,15342556,10601301,17353931,19148276,19060910,19060906,19043545,18936223,18842780,18660489,18626191,18479586,18320251,17852835,17655842,16893529,16846730,16806233,16670158,16643857,19913121,20562440,20571754,20628086,20639392,20691134,20565855,21106917,21102463,19875987,19948371,20714348,20716318,20948998,20972250,20980488,21040914,20864672 1625415,1625413,1625421 3992 NM_013402,AC004770,AP002380,CH471076,AF035284,AF084558,AF199596,AF226273,AF271778,AI052027,AK027427,AK027522,AK074754,AK074819,AK096275,AK222906,AK289552,AK298871,AK314199,AL512760,AL834479,BC007846,BP253788,CR591980,CR597486,CR602403,CR611884 NP_037534,AAC23397,EAW73973,AAG23120,AAF29378,AAF70457,AAG44789,BAB55103,BAB55173,BAC11182,BAC11229,BAG53244,BAD96626,BAF82241,BAH12889,BAG36877,CAC21679,CAD39138,AAH07846,O60427,Q9H2H3,ABM92260,ABM84748 Hs.503546 D5D|FADS6|FADSD5|FLJ38956|FLJ90273|LLCDL1|TU12 OTTHUMP00000211568|delta(5) desaturase|delta(5) fatty acid desaturase|delta-5 desaturase|delta-5 fatty acid desaturase|fatty acid desaturase 1|linoleoyl-CoA desaturase (delta-6-desaturase)-like 1 protein-coding 68475 FADS2 fatty acid desaturase 2 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq] 1580863 19913121,20562440,20628086,20644632,19546342,19776639,19809313,20045144,20335541,20364269,20379614,20395685,20427696,20484448,20339536,20694148,20714348,20948998,20972250,21040914,20691134,9867867,19352218,19148276,19144731,19060911,19060910,19060906,18937842,18936223,18842780,18626191,18479586,18320251,17984066,17852835,17284757,16908951,16893529,16670158,16303743,14702039,12951357,12851727,12713571,12562861,12477932,12147235,10860662,9445487,20565855,20980488,21106917,19875987,19948371 9415 CR617384,AP002380,CH471076,CQ782909,AF084559,AF108658,AF126799,AK027459,AK027513,AK027577,AK074925,AK074939,AK074991,AK123240,AK290291,AK299762,AL050118,BC009011,CR593148,CR599697,CR610979,NM_004265 NP_004256,EAW73974,EAW73975,CAF86135,AAG23121,AAG43192,AAD20018,BAG51327,BAB55167,BAG51351,BAG52031,BAC11305,BAG53882,BAF82980,BAH13120,CAB43280,AAH09011,O95864 Hs.502745 D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13 delta(6) desaturase|delta(6) fatty acid desaturase|delta-6 desaturase|delta-6 fatty acid desaturase|delta-6-desaturase|fatty acid desaturase 2|linoleoyl-CoA desaturase (delta-6-desaturase)-like 2 protein-coding 1352711 FADS3 fatty acid desaturase 3 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq] 1580863 19750004,19752397,19798445,10860662,19148276,19060911,19060906,14702039,12477932,19913121,20562440,20628086,20972250,21040914,20339536 3995 NM_021727,AP006260,CH471076,AB209356,AF084560,AF134404,AK091608,AK295473,AK310523,BC004901,CR607573,CR608795,CR618275 NP_068373,EAW73976,EAW73977,EAW73978,BAD92593,AAG23122,AAD31282,BAH12081,AAH04901,Q59FV3,Q9Y5Q0,ABM83806,ABM87128 Hs.21765 CYB5RP|LLCDL3 cytochrome b5-related protein|delta-9 fatty acid desaturase|delta-9-desaturase|fatty acid desaturase 3|linoleoyl-CoA desaturase (delta-9-desaturase)-like 3 protein-coding 1351054 FADS6 fatty acid desaturase domain family, member 6 1580863 14702039,12477932 283985 NM_178128,AC068874,CH471099,AK094411,AK293720,AY203929,BC117230 NP_835229,EAW89210,EAW89211,BAC04349,BAG57151,AAP34452,AAI17231,Q8N9I5 Hs.448845 FP18279 fatty acid desaturase 6 protein-coding 733981 FAF1 Fas (TNFRSF6) associated factor 1 Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq] 14600157,15596450,11713579,15743842,10462485,15688372,19615732,19722279,20057067,20124726,20237496,20379614,12702723,19422935,19174780,18790738,18573343,17999750,17684021,17046979,15592455,15489334,15231748,15207703,14702039,12963981,12832043,12477932,12372427,12087183,11527403,11378439,11243799,10810093,10094392,9740801,8524870,16169070,21076409,20886065,20195546,19913121,20628086 11124 NM_007051,AC091610,AC118557,AL049637,AL359977,AL603746,CH471059,AF094700,AF106798,AF132938,AF136173,AJ271408,AK094843,AK292840,AK293659,AL133631,BC004970,BC067100,CR611648,CR625260,FB580531 NP_008982,CAH70189,CAH70190,CAH72113,CAH72114,EAX06837,EAX06838,AAD51876,AAD51886,AAD27713,AAP97263,CAB67705,BAG52940,BAF85529,BAG57107,CAB63755,AAH04970,AAH67100,Q9UNN5,ABM83865,ABM87187,CAR98246 Hs.530402 CGI-03|FLJ37524|HFAF1s|UBXD12|UBXN3A|hFAF1 FAS-associated factor 1|OTTHUMP00000009651|TNFRSF6-associated factor 1|UBX domain protein 3A|UBX domain-containing protein 12|UBX domain-containing protein 3A|fas-associated factor 1 protein-coding 1604379 FAF2 Fas associated factor family member 2 The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq] 17353931,15489334,12477932,12372427,10048485,18775313,18835813,19615732,19818707,20160012 23197 NM_014613,AC010297,AC010316,CH471195,AB020694,AB088120,AK304346,AL706430,BC001069,BC006145,BC014001,BC015791,CR618280 NP_055428,EAW85073,EAW85074,EAW85075,BAA74910,BAC22491,BAG65190,AAH01069,AAH06145,AAH14001,Q96CS3,ABM83626,ABM87292 Hs.484242 ETEA|KIAA0887|UBXD8|UBXN3B FAS-associated factor 2|UBX domain containing 8|UBX domain protein 3B|UBX domain-containing protein 3B|UBX domain-containing protein 8|expressed in T-cells and eosinophils in atopic dermatitis protein-coding 733367 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq] 1580863,1300048,1559295,737743,737742 8364576,1998338,9305902,18072279,15759101,15638932,15489334,15465000,14718574,12477932,11476670,11278491,11196105,9633815,9101289,8829657,8723698,8557261,8422430,8162054,8028615,8005583,7977370,7942842,7821789,7757089,7550234,7296877,6622096,2378358,2378356,2336361,1401056,20201926,20029029,8318997 1559295,737743,737742 2184 NG_012833,AC087761,CH471136,AK313951,BC002527,BT007160,BX537608,CR593179,CR600618,CR603970,CR605525,CR612848,CR617015,CR623289,CR624063,D28440,M55150,NM_000137,S63548,X51728 CAA36016,P16930,Q53XA7,NP_000128,EAW99120,EAW99121,BAG36668,AAH02527,AAP35824,CAD97795,BAA05806,AAA52422 Hs.73875 FAA|OTTHUMP00000185572|beta-diketonase|fumarylacetoacetase protein-coding 1348488 FAHD1 fumarylacetoacetate hydrolase domain containing 1 15231747,16381901,15551868,15489336,15489334,14702039,12477932,11256614,11230166,11157797,11076863,20237496,20877624 81889 NM_031208,NM_001018104,NM_001142398,AC012180,AE006639,AL031722,CH471112,AF293367,AK094199,AL136720,BC020615,BC063017,CR533499,CR600899,CR614808 NP_112485,NP_001018114,NP_001135870,AAK61295,CAM26475,CAM26476,EAW85608,AAG10069,BAC04308,CAB66654,AAH63017,CAG38530,Q6P587,Q9HAZ7,CAL37660 Hs.513265 C16orf36|DKFZp566J2046|MGC74876|YISKL YISK like/RJD15|fumarylacetoacetate hydrolase domain-containing protein 1|yisK-like protein protein-coding 1345912 FAHD2A fumarylacetoacetate hydrolase domain containing 2A 1580863 15551868,12477932,10810093,7566098,17207965,20532202 51011 NM_016044,AC009238,CH471219,AA311902,AF151863,BC009403,BC110911,CR623858 NP_057128,AAY14753,EAX10729,EAX10730,EAX10731,EAX10732,EAX10733,AAD34100,AAH09403,AAI10912,Q96GK7,ADQ32346 Hs.546387 CGI-105|MGC131995 OTTHUMP00000207352|fumarylacetoacetate hydrolase domain containing 1|fumarylacetoacetate hydrolase domain-containing protein 2A protein-coding 1602649 FAHD2B fumarylacetoacetate hydrolase domain containing 2B 12477932 151313 NM_199336,AC018892,CH471207,AK295056,AL833869,BC064511 NP_955368,AAY14641,EAW71308,EAW71309,EAW71310,EAW71311,EAW71312,EAW71313,EAW71314,BAG58105,CAD38727,AAH64511,Q6P2I3 Hs.567723 DKFZp434N062 OTTHUMP00000207739|fumarylacetoacetate hydrolase domain-containing protein 2B protein-coding 1626693 FAHD2P fumarylacetoacetate hydrolase domain containing 2 pseudogene 729610 NG_006649,AC083809 pseudo 1605660 FAIM Fas apoptotic inhibitory molecule 19592656,17942717,17912957,15489334,14702039,12477932,12107411,10075978,8889548,20693673,19913121,20628086 55179 NM_001033030,NM_001033031,NM_001033032,NM_018147,AC020890,CH471052,AK001444,AK125477,BC012478,BM469375,BM738750,BQ638715,BU738945,CR457122 NP_001028202,NP_001028203,NP_060617,EAW79057,EAW79058,EAW79059,BAA91695,BAC86174,AAH12478,CAG33403,Q9NVQ4,ABM82508,ABM85702,NP_001028204 Hs.173438 FAIM1 OTTHUMP00000216879|fas apoptotic inhibitory molecule 1 protein-coding 1348169 FAIM2 Fas apoptotic inhibitory molecule 2 20336406,20935630,16964429,10535980,19079260,18440869,17912957,15489334,14702039,12477932,10231032,20816195,17207965,20843981,19557197,19812171,19851340,20215397 23017 AC131157,CH471111,AB023167,AF190461,AK090728,AK290031,AL707764,BC000051,BX647219,CR599086,CR615096,CR615657,CR622004,CR624617,NM_012306 NP_036438,EAW58103,EAW58104,BAA76794,AAF06327,BAG52220,BAF82720,AAH00051,Q9BWQ8,ADQ32488 Hs.567424 KIAA0950|LFG|LFG2|NGP35|NMP35|TMBIM2 fas apoptotic inhibitory molecule 2|lifeguard|neural membrane protein 35|protein lifeguard|transmembrane BAX inhibitor motif containing 2|transmembrane BAX inhibitor motif-containing protein 2 protein-coding 1603318 FAIM3 Fas apoptotic inhibitory molecule 3 19858324,20042454,20237496,9586636,18029348,19347734,18708628,18434611,17553462,16344560,15342556,12477932,1563211,16712791,20410497,20211142 9214 NM_001142473,NM_005449,AC098935,CH471100,AA769146,AF057557,AI524407,AK292007,AK297053,AK301187,AK316336,BC006401,GQ160900,GQ160901,BP225124,BP305798,BP338035,BT006797,CB158779,CR625287,DA971987,DB122623,DC393681,HM480394,NM_001193338,HI179036 NP_001135945,NP_005440,EAW93517,AAC18830,BAF84696,BAH12483,BAH13426,BAH14707,ACX94154,ACX94155,AAH06401,AAP35443,O60667,ABM81625,ADK11426,NP_001180267,CBX53827 Hs.58831,Hs.728324 FCMR|FcmR|TOSO Fc mu receptor|IgM Fc receptor|fas apoptotic inhibitory molecule 3|immunoglobulin mu Fc receptor|regulator of Fas-induced apoptosis Toso protein-coding 1604544 FAM100A family with sequence similarity 100, member A 15498874,15489334,14702039,12477932,16169070,17207965 124402 NM_145253,AC023830,CH471112,AF370434,AF447881,AK055785,AK056747,AW015675,BC008681,BC012018,BC025327,BC040160,BC062534,CR608937 NP_660296,EAW85284,EAW85285,EAW85286,EAW85287,EAW85288,AAQ15270,AAQ04656,AAH12018,AAH25327,AAH62534,Q71RA5,Q8TB05,ADQ32191 Hs.513313 FLJ31223|FLJ32185|PP11303 hypothetical protein LOC124402 protein-coding 1605547 FAM100B family with sequence similarity 100, member B 15489334,12477932 283991 NM_182565,AC015801,CH471099,BC035511,BC060859,BU167469,CR590966,CR596963,CR599986,CR613339,CR616618,CT004974 NP_872371,EAW89383,AAH35511,AAH60859,Q8IYN6,ABW03765 Hs.719201 MGC29814|MGC71792 hypothetical protein LOC283991 protein-coding 1606962 FAM101A family with sequence similarity 101, member A 16541075,14702039,12477932,16169070 144347 NM_181709,AC073916,CH471054,AK074545,AK126577,BC026875,BC042102,BC067283,BC085606,BC141805,BQ182211,CR602224 NP_859060,EAW98447,BAC11049,BAC86601,AAI41806,Q6ZTI6,Q8N2Q0 Hs.432901 FLJ44614 hypothetical protein LOC144347 protein-coding 1601917 FAM101B family with sequence similarity 101, member B 14702039,16169070,15489334,12477932 359845 NM_182705,AC141424,CH471108,AF085987,AK093557,BC014203,BC031341 NP_874364,EAW90664,EAW90665,AAH31341,Q8N5W9 Hs.725722,Hs.345588,Hs.723693 MGC45871 hypothetical protein LOC359845 protein-coding 1605493 FAM102A family with sequence similarity 102, member A 15164053,14605097,12477932,10737800 399665 NM_001035254,NM_203305,AL157935,CH471090,AK058004,AK074108,AL049365,BC047949,BC137087,BC137088,BC142952,BI008660,CN482844 NP_001030331,NP_976050,CAI12618,CAM14149,EAW87731,EAW87732,EAW87733,BAB84934,CAH10739,AAI37088,AAI37089,Q5T9C2,Q69Z06 Hs.535972 C9orf132|EEIG1|MGC50853|bA203J24.7 C230093N12Rik|early estrogen-induced gene 1 protein protein-coding 1603518 FAM102B family with sequence similarity 102, member B 17081983,16710414,15146197,14702039,12477932,8889548 284611 CH471122,AK025203,AK094905,BC127898,BC140863,BC140865,BC150530,BM680063,BQ426065,BX485163,CN281555,CR593389,CR622249,CR749397,CR936815,NM_001010883,AL160171 CAQ10402,EAW56323,AAI27899,AAI40864,AAI40866,AAI50531,CAH18243,Q5T8I3,NP_001010883,CAQ10401 Hs.200230 DKFZp686N01110|DKFZp779B126 OTTHUMP00000200315|hypothetical protein LOC284611 protein-coding 1320685 FAM103A1 family with sequence similarity 103, member A1 16189514,15489334,12477932 83640 NM_031452,AC022558,AK027095,AL049237,BC003627,BC027181,BC112329,CR597724,CR621664,CH471188 NP_113640,EAW62434,AAH03627,AAH27181,AAI12330,Q9BTL3,ABM83275,ABM86479 Hs.727661 C15orf18|HsT19360|MGC102778|MGC2560 chromosome 6 open reading frame 119|hypothetical protein LOC83640 protein-coding 1604467 FAM103A2P family with sequence similarity 103, member A2 pseudogene 353267 NG_005047 C6orf119|MGC2560|dJ427A4.2 pseudo 1602856 FAM104A family with sequence similarity 104, member A 16344560,15489334,14702039,12477932,9417904 84923 NM_032837,NM_001098832,AC097641,CH471099,CQ783651,CQ871274,CQ871276,AI926103,AK027681,AK074755,AK304556,BC011054,BC025238,BX537858,BX648968,CR624411,DB265439,U92989 NP_116226,NP_001092302,EAW89115,EAW89116,CAF86794,CAH56818,CAH56819,BAB55292,BAC11183,BAG65351,AAH11054,AAH25238,Q969W3 Hs.103555 FLJ14775 hypothetical protein LOC84923 protein-coding 1353979 FAM104B family with sequence similarity 104, member B 737633 15772651,15489334,12477932,16344560 737633 90736 NM_138362,AL590240,CH471154,AK000441,AK299935,AK311699,BC000919,BC006406,BC017571,CR591055,AK311333,BI850888,BX100076,CK004182,DB216586,DC413808,NM_001166699,NM_001166700,NM_001166701,NM_001166702,NM_001166703,NM_001166704,NR_030722 NP_612371,CAI39881,EAW93215,EAW93216,EAW93217,EAW93218,BAG61768,AAH00919,AAH06406,AAH17571,Q5XKR9,NP_001160171,NP_001160172,NP_001160173,NP_001160174,NP_001160175,NP_001160176 Hs.415414 CXorf44|FLJ18375|FLJ20434 hypothetical protein LOC90736 protein-coding 1604002 FAM105A family with sequence similarity 105, member A 15489334,14702039,12477932,9373149,9110174,8619474,17207965,8125298 54491 AC010627,AC016656,CH471102,AF052146,AK001989,AK125648,AK222731,AL512750,BC011524,BX342178,CR591591,NM_019018 NP_061891,EAX08042,EAX08043,BAA92023,BAD96451,CAC21673,AAH11524,Q9NUU6,ADQ32166 Hs.155085 FLJ11127|FLJ43660|NET20 hypothetical protein LOC54491 protein-coding 1602667 FAM105B family with sequence similarity 105, member B 20379614,16189514,15489334,14702039,12477932 90268 NM_138348,AC010491,CH471102,AK092203,AK095615,AK123480,BC007706,BC015392,CK817982 NP_612357,EAX08037,EAX08038,EAX08039,BAC03828,AAH07706,AAH15392,Q96BN8 Hs.406335 FLJ34884 hypothetical protein LOC90268 protein-coding 2303469 FAM106A family with sequence similarity 106, member A 15489334,14702039,12477932 80039 NR_026809,AC107983,CH471109,AK021862,BC098263 EAW94359,EAW94360,BAB13918,Q4KMX7 Hs.674403 FLJ11800 miscrna 1604137 FAM106B family with sequence similarity 106, member B 440411 XM_496191,AC015818 XP_496191 family with sequence similarity 106, member B protein-coding 3302126 FAM106C family with sequence similarity 106, member C pseudogene 12477932,16625196 100129396 AC098850,BC098294,BC098363,DN989334,NR_026810 P0CH98 Hs.712114 MGC120421|MGC120423 pseudo 1605094 FAM107A family with sequence similarity 107, member A 20453842,16169070,18813805,20298674,17353931,10564580,16432833,16381901,16189514,15489336,15489334,15342556,14702039,12477932,11256614,11230166,11076863,10702698,9110174,8619474 11170 AK316450,NM_007177,AB023810,AC116036,AC119424,CH471055,AB023811,AF035283,AF089853,AF089854,AK054720,AK055443,AK128791,AK298001,AL050264,BC010561,BC093012,BP212425,BX645008,CR457133,NM_001076778,CR591615,CR600423,CR601858,CR607139,CR609117,CR610702,CR617615,CR621351,EU569833 BAH14821,NP_001070246,NP_009108,BAA83072,EAW65378,EAW65379,EAW65380,EAW65381,BAA82845,AAD16093,AAD16094,BAG51416,BAB70924,BAG54736,BAG60307,CAB43366,AAH10561,CAG33414,ACB71116,O95990,Q6IAM1,CAL38640,ABM82689,ABM85873 Hs.506357 DRR1|FLJ30158|FLJ45473|TU3A downregulated in renal cell carcinoma|family with sequence similarity 107 member A transcript protein-coding 1346416 FAM107B family with sequence similarity 107, member B 16381901,15489336,15489334,15164054,12477932,11230166,11076863,19913121,20628086,16169070,16385451,20379614 83641 NM_031453,AC069544,AL139405,AL157706,AL158168,CH471072,AK024648,AK289959,AL136885,BC004872,BC064407,BC072452,BC144707,CR533466,CR610285,CR614450,CR620856,CR622977,AK127413,AK074275 NP_113641,CAI12270,CAI12271,CAI12272,EAW86268,EAW86270,EAW86271,BAC86966,BAF82648,CAB66819,AAH04872,AAH64407,AAH72452,CAG38497,Q9H098,CAL38476,EAW86269 Hs.446315 C10orf45|FLJ45505|MGC11034|MGC90261 chromosome 10 open reading frame 45|hypothetical protein LOC83641 protein-coding 1347246 FAM108A1 family with sequence similarity 108, member A1 737633 16344560,16303743,14702039,12477932 737633 81926 BC094816,CR593932,CR594563,CR603226,CR607418,CR615865,CR624450,DB025570,NM_001130111,NM_031213,AC012615,CH471139,CQ782500,AK024419,AK074043,AK074548,AK090438,AK289533,BC000158,BC009256,BC011667,BC020512,BC033749,BC035961,BC050605,BC071644,BC071876 AAH94816,Q96GS6,NP_001123583,NP_112490,EAW69440,EAW69441,EAW69442,EAW69443,EAW69444,EAW69445,EAW69446,EAW69447,CAF85784,BAB15709,BAB84869,BAC11052,BAC03419,BAF82222,AAH00158,AAH09256,AAH11667,AAH20512,AAH33749,AAH35961,AAH71644,AAH71876 Hs.465542,Hs.653679 C19orf27|MGC5244 abhydrolase domain-containing protein FAM108A1|chromosome 19 open reading frame 27 protein-coding 3418290 FAM108A10P family with sequence similarity 108, member A10, pseudogene 100132251 AC138869,AC145350 pseudo 3516335 FAM108A11P family with sequence similarity 108, member A11, pseudogene 100289252 AL049742,NG_023020 pseudo 1604668 FAM108A2 family with sequence similarity 108, member A2 16710414 728917 NG_011738,BX842679 CAI23639 pseudo 1642210 FAM108A3 family with sequence similarity 108, member A3 16710414 653401 NG_011737,AL049742 C1orf47|FAM108A2|FAM108A3 pseudo 2292190 FAM108A4 family with sequence similarity 108, member A4 648359 AL445305,CR597860,CR600437,CR601519,CR606427,CR606752,CR609494,CR611661,CR616972,CR617146,CR617500,CR620337,CR620847,XM_002345292 XP_002345333 Hs.465542 family with sequence similarity 108, member A4 protein-coding 2293157 FAM108A5 family with sequence similarity 108, member A5 10591208 729495 NG_023156,AC007050,CH471176 EAX02943 FAM108A5 pseudo 3520891 FAM108A6P family with sequence similarity 108, member A6, pseudogene This locus is a pseudogene in the FAM108 family, and lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq] 10591208,9074928 91219 D86997,D88269,NG_000002 FAM108A6 pseudo 3378585 FAM108A7P family with sequence similarity 108, member A7, pseudogene 644988 AC090774,NG_022988 pseudo 3207450 FAM108A8P family with sequence similarity 108, member A8, pseudogene 100133212 AC138907,NG_022980 pseudo 2859282 FAM108A9P family with sequence similarity 108, member A9, pseudogene 647144 AC133485,NG_023021 pseudo 1313162 FAM108B1 family with sequence similarity 108, member B1 737633 12477932,10810093,15489334,15164053 737633 51104 NM_016014,NM_001025780,AL138751,AL671309,CH471089,AF151825,AI564777,AK293060,BC038390,BC044576,BG720713 NP_057098,NP_001020951,CAH72763,CAH72764,CAH73542,CAH73543,EAW62521,EAW62522,AAD34062,BAF85749,AAH38390,AAH44576,Q5VST6 Hs.380389 C9orf77|CGI-67|RP11-409O11.2 abhydrolase domain-containing protein FAM108B1|chromosome 9 open reading frame 77 protein-coding 1603613 FAM108C1 family with sequence similarity 108, member C1 14702039,12477932 58489 NM_021214,AC023302,CH471136,AK091780,AK092758,AK298606,AL390079,BC059401,BC115003 NP_067037,EAW99113,BAG60790,CAB98203,AAH59401,AAI15004,Q6PCB6 Hs.459072 FLJ34461|MGC131546 abhydrolase domain-containing protein FAM108C1 protein-coding 1602835 FAM109A family with sequence similarity 109, member A 16344560,20133602,15489334,14702039,12477932 144717 AK299344,DA707326,DB055268,NG_021347,NM_001177996,NM_001177997,NM_144671,AC005805,CH471054,AK056918,AK093052,BC014091,BC018996,BC034809,CX758147,CX785083 BAG61345,NP_001171467,NP_001171468,NP_653272,EAW97950,BAB71310,BAC04036,AAH14091,AAH34809,Q8N4B1 Hs.173088 FLJ32356|SES1 protein FAM109A protein-coding 1604738 FAM109B family with sequence similarity 109, member B 18029348,15489334,15461802,12477932,10591208,20133602 150368 NM_001002034,CH471095,Z82192,Z99716,BC029776,BC104175,BC104176,BX648402,CR456454,CR600979,CR605425 NP_001002034,EAW60487,CAI19712,CAI41696,CAQ07555,AAH29776,AAI04176,AAI04177,CAG30340,Q6ICB4,CAK54435,CAK54734,ACE87627,ACE86939 Hs.368312 DKFZp686J07229|MGC125831|MGC125832|Ses2 OTTHUMP00000199676|hypothetical protein LOC150368 protein-coding 1346696 FAM10A3 family with sequence similarity 10, member A3 12079276 144638 NG_004762,AC011595 FAM10A3|FAM10A3P pseudo 1348593 FAM10A4 family with sequence similarity 10, member A4 pseudogene 1580863 17081983,16807684,12079276,20190752 145165 NR_002183,AL157367,AF539468 AAN16377,Q8IZP2 Hs.511834 FAM10A4|FAM10A4P pseudo 1352140 FAM10A5 family with sequence similarity 10, member A5 pseudogene 1580863 12079276 144106 NG_005653,AC107948,AF512499 AAM44055,Q8NFI4 Hs.567697 FAM10A5 pseudo 1347927 FAM10A6 family with sequence similarity 10, member A6 12079276 157530 NG_007353,AF186191 FAM10A6|FAM10A6P pseudo 1350772 FAM10A7 family with sequence similarity 10, member A7 (pseudogene) 12477932,12079276 155019 NG_008738,AC083873,CH236950 FAM10A7|FAM10A7P pseudo 1318939 FAM110A family with sequence similarity 110, member A 17474147,17499476,16344560,15489334,12477932,11780052 83541 NM_001042353,NM_207121,NM_031424,AL118502,AB196290,AK314165,AL530841,BC004222,BC012800,BC022238,BI911808,CR590220,CR593574,CR599968,CR613912,CR614477,CR623946,DA915382,DQ431181,CH471133 Q9BQ89,NP_001035812,NP_997004,NP_113612,EAX10655,EAX10656,BAD77807,BAG36849,AAH04222,AAH12800,AAH22238,CAC28879,ABD92773 Hs.574822 C20orf55|F10|MGC2450|MGC4675|bA371L19.3 OTTHUMP00000029944|chromosome 20 open reading frame 55|hypothetical protein LOC83541 protein-coding 1605314 FAM110B family with sequence similarity 110, member B 9110174,8619474,17207965,18029348,19240061,17499476,14702039,12477932,20889312,20379614 90362 NM_147189,AC027698,AC104350,AC110013,CH471068,AK023658,AK026141,AK092221,AY937246,BC024294,DQ431182,U79298 ADQ32245,NP_671722,EAW86801,EAW86802,BAG52497,AAX28928,AAH24294,ABD92774,AAB50224,Q8TC76 Hs.154652 C8orf72|MGC39325 hypothetical protein LOC90362 protein-coding 1606851 FAM110C family with sequence similarity 110, member C 21130836,17499476,19698782 642273 NM_001077710,AC097643,AK302544,AL137761,CR601458,DQ431183 NP_001071178,BAG63816,ABD92775,Q1W6H9 Hs.8379 FAM110C protein protein-coding 1606517 FAM111A family with sequence similarity 111, member A 16344560,15489334,14702039,12477932,11572484 63901 NM_198847,NM_001142519,NM_001142520,NM_001142521,AP001258,CH471076,AB067482,AK025319,AK026447,AK092061,AK092237,NM_022074,AK092953,AK130799,AK291453,BC013137,BC041693,BC054515,BC071759,BQ420366,BU428612,CR747277,CR749358,DA502464,DB218857 NP_071357,NP_942144,NP_001135991,NP_001135992,NP_001135993,EAW73834,EAW73835,EAW73836,EAW73837,BAB67788,BAB15486,BAF84142,AAH13137,AAH54515,AAH71759,CAH18211,Q96PZ2 Hs.150651 DKFZp686A06175|FLJ22794|KIAA1895 hypothetical protein LOC63901 protein-coding 1603483 FAM111B family with sequence similarity 111, member B 15489334,12477932,11181995,8889548 374393 NM_198947,NM_001142703,NM_001142704,AP001258,CH471076,AK303520,AK304258,AY457926,BC005998,BC062456,BC130513,BC130539,BC144078,BG613098,BM674379,DC353500 NP_945185,NP_001136175,NP_001136176,EAW73833,BAG64548,BAG65124,AAR20839,AAH62456,AAI30514,AAI30540,Q6SJ93,ADR83393 Hs.186579 CANP cancer-associated nucleoprotein|hypothetical protein LOC374393 protein-coding 1318837 FAM113A family with sequence similarity 113, member A 17353931,16189514,15489334,14702039,12601173,12477932,11780052 64773 NM_022760,AL161656,CH471133,AK026029,AK056353,AK126535,AK293638,AL442086,AY211913,BC008864,BC014247,BC037240,BC051816,CR604790,CR618243 NP_073597,CAC21463,CAC21464,CAI12118,CAI12119,EAX10567,EAX10568,EAX10569,EAX10570,EAX10571,EAX10572,BAB15328,BAB71160,BAG57093,AAO65166,AAH08864,AAH14247,AAH37240,AAH51816,Q9H1Q7 Hs.29341 C20orf81|DKFZp547L054|FLJ22376|bA12M19.1 OTTHUMP00000030057|OTTHUMP00000030058|OTTHUMP00000030061|chromosome 20 open reading frame 81|hypothetical protein LOC64773|sarcoma antigen NY-SAR-23 protein-coding 1602665 FAM113B family with sequence similarity 113, member B 12477932,21044367,17207965,19118814 91523 AC008083,CH471111,BC008360,BC016154,BC072670,NM_138371 NP_612380,EAW57925,EAW57926,EAW57927,EAW57928,AAH08360,AAH16154,Q96HM7,ADQ31777 Hs.560100 MGC16044 hypothetical protein LOC91523 protein-coding 1606191 FAM114A1 family with sequence similarity 114, member A1 15489334,14702039,12477932,16344560,17029606,20379614,19913121,20628086 92689 NM_138389,AC108044,CH471069,AK094179,AK292831,AK296859,AK304050,AK308959,BC001096,BC040452,BC041559,BX640862,AK057713,CS185639,DA802033,NR_033290 NP_612398,EAW92903,EAW92904,BAG52837,BAF85520,BAG59423,BAG64960,AAH01096,AAH40452,CAE45923,Q6MZV4,Q8IWE2,CAJ42820 Hs.476517 FLJ33151|Noxp20 OTTHUMP00000218193|nervous system over expressed protein 20|nervous system over-expressed protein 20|protein NOXP20 protein-coding 1313342 FAM114A2 family with sequence similarity 114, member A2 10843801,16344560,15489334,14702039,12477932,9373149,8125298 10827 NM_018691,AC010232,CH471062,AF159700,AK024664,AK095446,AK225821,AK298943,AK303865,AK313331,BC011414,BC050701,CR604627,DA351656 NP_061161,EAW61646,EAW61647,EAW61648,AAF76523,BAB14952,BAG53056,BAG61042,BAG64804,BAG36135,AAH11414,AAH50701,Q9NRY5 Hs.166551 133K02|C5orf3 hypothetical protein LOC10827 protein-coding 1602499 FAM115A family with sequence similarity 115, member A 19615732,16713569,16189514,14702039,12477932,9872452,9847074 9747 NM_014719,AC004742,AC099548,CH236959,CH878732,AB018281,AF086218,AF119896,AK001640,AK291605,AK294312,AK299911,BC000609 NP_055534,AAQ96852,AAQ96853,EAW55623,BAA34458,AAF69650,BAF84294,BAH11732,BAG61749,AAH00609,Q9P151,Q9Y4C2 Hs.723179 FLJ56782|KIAA0738 OTTHUMP00000212430|hypothetical protein LOC9747 protein-coding 1641972 FAM115B family with sequence similarity 115, member B (pseudogene) 12853948 653199 NG_008224,AC073264,CH236959 pseudo 1603511 FAM115C family with sequence similarity 115, member C 14702039,12477932 285966 NM_001130025,NM_001130026,NM_173678,AC073264,AC106862,CH236959,CH471314,AK090395,AK098041,AK296318,AL832734,AY167570,BC113530,BC117233,DC299572,CN479606,DC402602 ADR83345,ADR83386,NP_001123497,NP_001123498,NP_775949,EAL23793,EAW50491,BAC03376,BAC05220,BAG59014,AAN87343,AAI13531,AAI17234,A6NFQ2,ACE87363,ACE86678 FAM139A|FLJ40722|MGC142090 family with sequence similarity 139, member A|hypothetical protein LOC285966 protein-coding 2293906 FAM115D family with sequence similarity 115, member D (pseudogene) 9847074 653691 NG_008025,AC099548,CH236959,BG748361,CB046449 Q8N1I1 Hs.632030 FAM139B pseudo 1606682 FAM116A family with sequence similarity 116, member A 16344560,14702039,12477932 201627 NM_152678,AC114480,CH471055,AA605125,AK074156,AK092288,BC040291,BC054343,CR607826,DB163127 NP_689891,EAW65345,EAW65346,BAB84982,BAC03852,AAH40291,AAH54343,Q8IWF6 Hs.91085 FLJ34969 hypothetical protein LOC201627 protein-coding 1606364 FAM116B family with sequence similarity 116, member B 15489334,14702039,12477932,8889548 414918 NM_001001794,CH471138,CR559946,CR759740,CR861497,CR861498,CR932343,CR932344,CT009622,AK054743,BC031069,BI758775,BM981037,BX363595,AA864612 NP_001001794,EAW73528,EAW73529,AAH31069,Q8NEG7,CAO03304,CAO03484,CAO03525,CAO03579,CAO03621 Hs.530380 MGC33692 family with sequence similarity 116, member B protein-coding 1604587 FAM117A family with sequence similarity 117, member A 15489334,12477932 81558 AK302376,NM_030802,AC015795,CH471109,AF123073,BC037572,BC065199,CR596320 NP_110429,EAW94662,EAW94663,EAW94664,AAK01477,BAH13689,AAH37572,AAH65199,Q9C073 Hs.514308 C/EBP induced protein|C/EBP-induced protein|OTTHUMP00000220574|family with sequence similarity 117, member A protein-coding 1317004 FAM117B family with sequence similarity 117, member B 18029348,15146197,14702039,12477932,11586298 150864 NM_173511,AC009960,AC098831,CH471063,AB053315,AI523857,AK025007,AK096090,BC021689,BC065010,BC106906,BC106907,BX537704,CN397358,CR614335 NP_775782,AAX76518,AAY24090,EAW70311,EAW70312,BAB69023,BAC04700,AAH65010,AAI06907,AAI06908,CAD97817,Q6P1L5,Q7Z3M2 Hs.471130 ALS2CR13|DKFZp686H01244|FLJ38771 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13 protein-coding 1345510 FAM118A family with sequence similarity 118, member A 737633 16344560,15489334,15461802,14702039,12477932,10591208,19680542 737633 55007 NM_001104595,NM_017911,AL008718,CH471138,AK000642,AK026239,AK125027,AK302205,AW206534,BC013696,BQ022265,CB961784,CR456403,CR609598,CR624528,DB153788,DB459223 NP_001098065,NP_060381,CAI17949,CAQ08674,CAQ08675,CAQ08676,CAQ08677,EAW73378,EAW73379,EAW73380,BAA91301,BAG54126,BAG63564,AAH13696,CAG30289,Q9NWS6 Hs.265018 C22orf8|FLJ20635 bK268H5.C22.4|hypothetical protein LOC55007 protein-coding 1603013 FAM118B family with sequence similarity 118, member B 12477932,9373149,17207965,16169070,16712791,8125298 79607 CR617090,CR617403,CR623279,CR623280,CR625659,BF448999,NG_017156,AP000717,AP001318,AP001893,CH471065,AK024756,AK225081,AK315615,BC001340,BC001647,CB141933,CR457334,CR595100,CR599154,NM_024556 Q9BPY3,ADQ32755,NP_078832,EAW67677,EAW67678,EAW67679,EAW67680,BAB14987,AAH01340,AAH01647,CAG33615 Hs.276315 FLJ21103 hypothetical protein LOC79607 protein-coding 1602980 FAM119A family with sequence similarity 119, member A 14702039,12477932 151194 BC033720,NM_001127395,NM_145280,AC079767,CH471063,AF455817,AK093812,BC009462,BG832122,CR601624 NP_001120867,NP_660323,AAX93175,EAW70411,EAW70412,EAW70413,EAW70414,EAW70415,EAW70416,EAW70417,AAL66295,BAC04229,AAH09462,AAH33720,Q8WXB1 Hs.664764 HCA557b|MGC45373 OTTHUMP00000206647|OTTHUMP00000206648|OTTHUMP00000206651|OTTHUMP00000206652|hepatocellular carcinoma-associated antigen 557b|hypothetical protein LOC151194 protein-coding 1604024 FAM119B family with sequence similarity 119, member B 11256614,16381901,15489336,12477932,11076863,20190274 25895 NM_206914,NM_015433,AC025165,CH471054,AF455816,AK024983,AK292276,AL050100,BC016395,BC099841,BC103501 NP_996797,NP_056248,EAW97072,EAW97073,EAW97074,AAL66294,BAB15049,BAF84965,CAB43271,AAH16395,AAH99841,AAI03502,Q96AZ1,CAL38120,CAL38637 Hs.632720 DKFZp586D0919 hepatocellularcarcinoma-associated antigen HCA557a|hypothetical protein LOC25895 protein-coding 1315374 FAM120A family with sequence similarity 120A 20379614,19015244,17081983,16964243,15782174,15592455,15489334,15164053,14702039,14585507,12477932,9110174,8889548,8724849,8619474,18029348 23196 AL353629,CH471089,AF055017,AF214737,AF214738,AK091785,AK096349,AY266457,AY450389,AY450393,BC007879,BC034935,BC075701,BC098584,BC111736,BX326996,CA419293,CB989774,CD110412,CF135376,D80005,NM_014612 NP_055427,CAI96105,CAI96106,CAI96108,CAI96109,EAW62863,EAW62864,EAW62865,EAW62866,AAC09364,AAF72866,AAF72867,AAP31031,AAR21082,AAR21086,AAH07879,AAH98584,AAI11737,BAA11500,Q9NZB2 Hs.372003,Hs.707324 C9orf10|DNAPTP1|DNAPTP5|MGC111527|MGC133257|OSSA DNA polymerase-transactivated protein 1|DNA polymerase-transactivated protein 5|constitutive coactivator of PPAR-gamma-like protein 1|oxidative stress-associated Src activator protein-coding 1349056 FAM120AOS family with sequence similarity 120A opposite strand 14702039,14585507,12477932 158293 AL353629,AL583839,CH471089,AK056096,AK093641,AK309269,BC037551,BC038803,BC046183,BC063650,BC080634,NM_198841,BC107135,BC107136,BC113074,CR593923 NP_942138,CAI96107,CAI12338,CAI12339,CAI12340,CAI12342,EAW62862,BAG51623,CAI96101,CAI96103,Q5T036,AAI60143 Hs.350364,Hs.709859 C9orf10OS|FLJ31534 putative FAM120A opposite strand protein protein-coding 1321130 FAM120B family with sequence similarity 120B 20379614,11347906,17595322,17353931,16189514,14702039,14585507,12477932 84498 AK296730,NM_032448,AL008628,AL078605,CH471051,AB058741,AK056435,AK294415,AK296825,AK299890,AL832883,AY266458,BC012177,DQ873695 BAG59317,NP_115824,CAI19554,CAI23205,EAW47424,BAB47467,BAG57665,BAG59396,BAG61736,AAP31032,AAH12177,ABH09086,Q96EK7 Hs.369522 CCPG|FLJ55614|KIAA0183|KIAA1838|PGCC1|dJ894D12.1 PPARG constitutive coactivator 1|PPARgamma constitutive coactivator 1|constitutive coactivator of PPAR-gamma|constitutive coactivator of PPARG|constitutive coactivator of peroxisome proliferator-activated receptor gamma protein-coding 1603035 FAM120C family with sequence similarity 120C 14702039,18498374,15489334,14585507,12477932 54954 NM_017848,AL589872,Z84469,AK000513,AK125664,AY121803,AY150025,BC016138,BC073166,BC081532,BC136413,BC144081,BQ270974,NG_021316,NM_198456 NP_060318,CAH70725,CAI42734,BAA91219,AAM82751,AAO24121,AAH16138,AAH81532,AAI36414,Q642I8,Q9NX05,NP_940858 Hs.86045 CXorf17|FLJ20506|FLJ43676|ORF34 OTTHUMP00000214810|constitutive coactivator of PPAR-gamma-like protein 2|tumor antigen BJ-HCC-21 protein-coding 1321149 FAM122A family with sequence similarity 122A 737633 17207965,17081983,15489334,15164053,14702039,12477932,12107410,20383146 737633 116224 NM_138333,AL354794,CH471089,AA418448,AK126379,BC013062,BE778779,BI757526,CA390009,CD517474,CR597654,CR612982,H54102 ADQ31865,NP_612206,CAI12619,EAW62468,BAG54319,AAH13062,Q96E09 Hs.655572 C9orf42|MGC17347 hypothetical protein LOC116224 protein-coding 1605855 FAM122B family with sequence similarity 122B 15146197,19615732,18029348,16964243,16381901,15772651,15489336,15489334,14702039,12477932,11230166,11076863 159090 AA976209,CN303065,CN419432,NG_016348,NM_001166599,NM_001166600,NM_001170756,NM_001170757,AL672032,AL691477,CH471107,AK026809,AK124650,AK124940,AK125991,NM_145284,AK297720,AL832218,BC019221,BC032419,BC110846,BX538218,AK292517 NP_001160071,NP_001160072,NP_001164227,NP_001164228,NP_660327,CAI40040,CAI42398,EAX11749,EAX11750,EAX11751,EAX11752,EAX11753,EAX11754,EAX11755,BAC85918,BAC85999,BAC86380,BAG60074,AAH19221,AAH32419,AAI10847,CAD98073,Q7Z309,CAL38157,BAF85206 Hs.404706 DKFZp686L20116|MGC131814|RP11-308B5.5 OTTHUMP00000024067|OTTHUMP00000215087|family with sequence similarity 122B protein-coding 1605854 FAM122C family with sequence similarity 122C 14702039,17207965,15772651,15489334,12477932 159091 AK090611,AW269988,BG532414,DB458889,NG_016383,NM_001170779,NM_001170780,NM_001170781,NM_001170782,NM_001170783,NM_001170784,NM_138819,AL691477,CH471107,Z83826,AK130840,AK295485,AK307219,AK310079,BC016784,BC017868,BC063491,BC065225 BAG52195,NP_001164250,NP_001164251,NP_001164252,NP_001164253,NP_001164254,NP_001164255,ADQ32539,NP_620174,CAI42399,EAX11745,EAX11746,EAX11747,EAX11748,CAI42827,BAG58408,AAH17868,AAH63491,AAH65225,Q6P187,Q6P4D5 Hs.269127 RP3-473B4.1 hypothetical protein LOC159091 protein-coding 1604720 FAM123A family with sequence similarity 123A 15489334,15345747,15057823,14702039,12477932,8889548 219287 NM_152704,NM_199138,AL359757,CH471075,AK055049,AK098343,AK098796,AL832627,BC032653,BC041392,BM680074 NP_689917,NP_954589,CAH70807,EAX08363,EAX08364,BAB70845,BAC05288,BAC05414,AAH32653,AAH41392,Q8N785,Q8N7J2 Hs.528335 FLJ25477 OTTHUMP00000018143|OTTHUMP00000222591|hypothetical protein LOC219287 protein-coding 1606716 FAM123B family with sequence similarity 123B 11807859,17925383,19760609,17204608,16344560,15772651,14702039,20209645,19416806,19351817,19137020,19079258,18720004,18460646,18452086,18391980,18311776,18021721,17620295,17510365,19757195 139285 NG_021345,NM_152424,AL355852,CH471132,AK097146,AL833759,DA939151,EF186024 NP_689637,CAI40637,CAO03539,EAX05415,BAC04964,ABM60755,Q5JTC6 Hs.314225 AMER1|FLJ39827|OSCS|RP11-403E24.2|WTX Wilms tumor on the X|protein FAM123B protein-coding 1601927 FAM123C family with sequence similarity 123C 16344560,14702039,12477932 205147 NM_152698,NM_001105193,NM_001105194,NM_001105195,AC010984,AC140481,CH471250,AK095696,AK289525,AK291424,BC025667,BC113445,BC113447,DA102742,DA318919,DA401709,DA500900,DA773233,BC143806 NP_689911,NP_001098663,NP_001098664,NP_001098665,AAY24355,EAW51273,BAC04612,BAF82214,BAF84113,AAI13446,AAI13448,Q8N944,AAI43807,ADR83424 Hs.369289 FLJ38377 OTTHUMP00000204983|OTTHUMP00000204984|hypothetical protein LOC205147 protein-coding 1602826 FAM124A family with sequence similarity 124A 12477932,12975309,16189514,14702039,20379614 220108 NM_145019,AL157817,CH471075,AK055269,AK096364,AY358177,BC034497,BC051771 CAM20007,NP_659456,CAI14260,EAX08867,EAX08868,BAB70894,BAC04769,AAQ88544,AAH34497,AAH51771,Q6UXW9,Q86V42 Hs.71913 FLJ30707 hypothetical protein LOC220108 protein-coding 1602681 FAM124B family with sequence similarity 124B 16189514,12477932,19447967,17207965 79843 CH471063,AK026399,AK075126,BC025754,CR622310,NM_001122779,NM_024785,AC008072 Q9H5Z6,AAY14842,EAW70826,EAW70827,BAB15471,AAH25754,NP_001116251,NP_079061,ADQ31647 Hs.147585 FLJ22746 OTTHUMP00000164220|hypothetical protein LOC79843 protein-coding 1604253 FAM125A family with sequence similarity 125, member A 20654576,16895919,15489334,14702039,12477932 93343 AC010319,CH471106,AK057057,AK289487,BC007883,BC011840,CR592592,CR593704,CR595176,CR601184,CR607438,CR608687,CR615887,CR622775,NM_138401 EAW84604,EAW84605,BAF82176,AAH07883,AAH11840,Q96EY5,NP_612410 Hs.515243 CFBP|FLJ32495 CIN85/CD2AP family binding protein|CIN85/CD2AP family-binding protein|ESCRT-I complex subunit MVB12A|multivesicular body subunit 12A protein-coding 1320196 FAM125B family with sequence similarity 125, member B 17207965,15489334,14702039,12477932,11214971,20583170,20654576,17895996,18005716,20379614 89853 NM_001011703,AC006443,CH471090,AJ420437,AK000001,AK024432,AK024441,AK293740,AK298023,AK307473,BC000122,BC028675,NM_033446,BC036326,BC041601 NP_258257,NP_001011703,EAW87639,EAW87640,BAA92226,BAB15722,BAB15731,BAH11585,BAH12706,AAH28675,Q9H7N7,Q9H7P6,Q9NXY4,ADQ32584 Hs.162659 C9orf28|FLJ00001 ESCRT-I complex subunit MVB12B|OTTHUMP00000022152|chromosome 9 open reading frame 28|multivesicular body subunit 12B protein-coding 1606763 FAM126A family with sequence similarity 126, member A The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq] 10910037,17928815,16951682,16344560,15489334,14702039,12853948,12690205,12477932 84668 AK297399,AL833296,BC018710,BX640757,CR626024,DB099987,NM_032581,NG_008392,AC005682,AC006039,CH236948,CH471073,AA811006,AB030241,AK054887,AK056319,AK057686 BAG59839,AAH18710,CAE45864,Q9BYI3,ABM82624,ABM86267,NP_115970,AAS01991,AAS07519,EAL24262,EAW93767,EAW93768,BAB39849,BAB70823,BAB71148 Hs.85603 DRCTNNB1A|HCC|HLD5|HYCC1 OTTHUMP00000202016|OTTHUMP00000202017|down regulated by Ctnnb1, a|down-regulated by CTNNB1 protein A|hyccin protein-coding 1605824 FAM126B family with sequence similarity 126, member B 11256614,15489334,15302935,14702039,12477932 285172 AK095236,AK097111,AK124184,AK124937,AK315104,AL832234,AL832346,AL833403,BC039295,BC045174,CH471063,AK001843,AK027168,NM_173822,AC005037,AC007272 BAG53423,BAG54019,BAG37564,AAH39295,Q8IXS8,ABM82448,ABM85638,EAW70230,EAW70231,EAW70232,NP_776183,AAY14726,AAX88971 Hs.24701 FLJ10981|FLJ37917|FLJ42947|HYCC2|MGC39518 OTTHUMP00000206416|hypothetical protein LOC285172 protein-coding 1354377 FAM127A family with sequence similarity 127, member A 1580863 16713569,16093683,15772651,15716091,15489334,12477932,9403077,9110174,8619474 8933 NM_001078171,AL136169,CH471107,AF038168,AF052096,BC002385,BC002410,BC106076,CD367165,CR456853,CR623551,CX784259,D88756,Y13374 NP_001071639,CAB87958,EAX11739,AAB97361,AAC28618,AAH02385,AAH02410,CAG33134,BAB46920,CAA73804,A6ZKI3,ABM82310,ABW03433 Hs.522789 CXX1|MAR8C|MART8C|MGC117411|Mar8|Mart8 CAAX box 1|family with sequence similarity 127, member A protein-coding 1603403 FAM127B family with sequence similarity 127, member B 16093683,15716091,15146197,12477932,9403077,16169070,16189514 26071 NM_001078172,NM_001134321,AL136169,AL117556,BC000393,BC008096,BC019300,BC071991,BM050811,BU161376,CN367136,CR457123,CR542228,CR601523 NP_001071640,NP_001127793,CAD92617,AAH00393,AAH19300,AAH71991,CAG33404,CAG47024,Q6IAN1,Q6IPB9,Q9BWD3 Hs.460924 CXX1b|DKFZp564B147|MAR8A|MGC8471 family with sequence similarity 127, member B protein-coding 1604676 FAM127C family with sequence similarity 127, member C 16093683,15716091,12477932,9403077 441518 NM_001078173,AL136169,AI569106,AK098443,BC048268,BC063496,BC073159,BC086860,BC113720,BC117393,CR591199,CR598489,CR599023,CR606829,CR608930,CR612217,DB490903 NP_001071641,CAD92616,AAI13721,AAI17394,Q17RB0,ADR82807 Hs.378813 CXX1c|FLJ25577|MAR8B family with sequence similarity 127, member C protein-coding 1603721 FAM128A family with sequence similarity 128, member A 19913121,20628086,12477932,8889548,20360068,20098747 653784 NM_001085365,AC073869,BC018206,BC063024,BC104650,BI599271,BM554057,BU682101 NP_001078834,AAX93252,AAH18206,AAH63024,AAI04651,Q6P582 Hs.655067 FAM128A|MOZART2A FLJ14346-like|family with sequence similarity 128, member A|mitotic-spindle organizing protein 2A|mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A protein-coding 1605033 FAM128B family with sequence similarity 128, member B 14702039,12477932,17207965,20360068,19913121,20628086 80097 NM_025029,AC018804,CH471263,AK024408,BC014255,BC017694,BC066296,BG036944,BI546951,CR623609,CR624733 NP_079305,AAY14884,EAW55602,EAW55603,EAW55604,EAW55605,AAH14255,AAH66296,Q6NZ67,ADQ32817 Hs.469925,Hs.516450 FAM128B|FLJ14346|MGC87017|MOZART2B OTTHUMP00000204374|family with sequence similarity 128, member B|mitotic-spindle organizing protein 2B|mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B protein-coding 736616 FAM129A family with sequence similarity 129, member A 18029348,16949643,19240061,16710414,16444351,15489334,15085203,14702039,12477932,11318611,11011112,19536772 116496 AL096819,NM_052966,AL109865,AL109956,AL136086,CH471067,AB050477,AF288391,AK022527,AK074139,AK095547,AK310557,AK311019,AL137572,AY550972,BC018532,BC030531,GN344057 CAI21739,NP_443198,CAI17848,CAI17877,EAW91184,EAW91185,BAB17230,AAG60611,BAB14079,BAB84965,AAT52218,AAH30531,Q9BZQ8,CAY55964 Hs.518662 C1orf24|FLJ38228|GIG39|NIBAN cell growth inhibiting protein 39|cell growth-inhibiting gene 39 protein|niban protein|protein Niban protein-coding 1315963 FAM129B family with sequence similarity 129, member B 737633 17081983,16964243,16083285,15489334,15302935,14702039,12477932,19362540,19615732 737633 64855 NM_001035534,NM_022833,AL390116,AL445222,CH471090,AB210016,AF151783,AF192911,AK023580,AK025804,AK025951,AL137555,BC001979,BC018849,BC023210,BC067366,BC110345,BM557756,BX280720 NP_001030611,NP_073744,CAH73084,CAH73085,CAH72914,CAH72915,EAW87675,EAW87676,EAW87677,EAW87678,BAE06098,AAK57556,AAQ13825,BAB14615,BAB15240,CAB70809,AAH01979,AAI10346,Q2YD88,Q4LE55,Q5VVW7,Q96TA1,Q9H6L6,Q9H8K1 Hs.522401 C9orf88|DKFZP434H0820|FLJ13518|FLJ22151|FLJ22298|MEG-3|MINERVA|OC58|bA356B19.6 niban-like protein 1 protein-coding 1604724 FAM129C family with sequence similarity 129, member C 14702039,12886250,12477932 199786 NM_001098524,AC010618,CH471106,AA649002,AI688885,AK074069,AK097121,AY254197,AY254198,AY254199,BC033225,BC053606,NM_173544,AK298062,AK300046,AK301159 NP_775815,NP_001091994,EAW84615,EAW84616,EAW84617,EAW84618,EAW84619,EAW84620,BAB84895,BAC04955,AAO83574,AAO83575,AAO83576,AAH53606,Q86XR2,AAI67806,BAG60355,BAG61856,BAG62749 Hs.434133 BCNP1|FLJ39802 B-cell novel protein 1|niban-like protein 2 protein-coding 1354159 FAM12A family with sequence similarity 12, member A Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq] 1580863 17207965,7514008,15489334,12477932,11715855,9739419,9685187 10876 NM_006683,AL163636,CH471078,AA769825,BC069407,BC096698,BC096731,BC098164,BC098356,BC106711,BC106712,X76383 ADQ32872,NP_006674,EAW66444,AAH69407,AAH96698,AAH96731,AAH98164,AAH98356,AAI06712,AAI06713,CAA53971,Q14507 Hs.304757 EP3A|FAM12A|HE3-ALPHA|HE3A|HE3ALPHA|MGC119614|MGC119615 epididymal secretory protein E3 alpha|epididymal secretory protein E3-alpha|epididymis-specific 3 alpha|family with sequence similarity 12, member A|human epididymis-specific 3 alpha|human epididymis-specific protein 3-alpha protein-coding 1344731 FAM12B family with sequence similarity 12, member B (epididymal) Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq] 1580863 18029348,12975309,12477932,11715855,9739419,9685187,7514008 64184 NM_022360,AL133371,AL163636,AX192189,CH471078,AI075915,AY358865,BC128030,BX112699,X76386,HC006942,HC044705 NP_071755,CAC51312,EAW66443,AAQ89224,AAI28031,CAC17141,P56851,CBH19276,CBH30682 Hs.525202 EP3B|FAM12B|HE3-BETA|HE3B epididymal secretory protein E3 beta|epididymal secretory protein E3-beta|family with sequence similarity 12, member B (epididymal)|human epididymis-specific 3 beta|human epididymis-specific protein 3-beta protein-coding 1350520 FAM12CP family with sequence similarity 12, member C pseudogene 7514008 266643 NG_002367,X76387,AC016906 FAM12CP|HE3-GAMMA pseudo 1606725 FAM131A family with sequence similarity 131, member A 15489334,14702039,12975309,12477932,16169070 131408 NM_144635,AC078797,CH471052,AK024378,AY358435,BC026221,BC037299,CR601623,CA416923,DB472337,DB472892,NM_001171093,T74148 NP_653236,EAW78251,EAW78252,EAW78253,EAW78254,EAW78255,EAW78256,AAQ88801,AAH26221,AAH37299,Q6UXB0,NP_001164564 Hs.591307 C3orf40|FLAT715|MGC21688|PRO1378 OTTHUMP00000209471|OTTHUMP00000209473|OTTHUMP00000209474|OTTHUMP00000209475|hypothetical protein LOC131408 protein-coding 1605421 FAM131B family with sequence similarity 131, member B 16344560,15489334,12853948,12477932,9872452,20379614 9715 NM_001031690,NM_014690,AC093673,CH236959,CH471198,AB018316,AK124557,AK291470,AL832579,BC045611,BC050543,DA226407 NP_001026860,NP_055505,AAS07501,EAL23787,EAW51854,EAW51855,EAW51853,EAW51856,EAW51857,BAA34493,BAF84159,CAD89938,AAH45611,AAH50543,O94871,Q86XD5 Hs.648908 KIAA0773 OTTHUMP00000202493|OTTHUMP00000202495|OTTHUMP00000202496|hypothetical protein LOC9715 protein-coding 1606908 FAM131C family with sequence similarity 131, member C 16710414,16344560,16189514,15489334,14702039,12477932,19734545,17207965 348487 NM_182623,AL355994,CH471167,AK094085,AL529663,BC016848,BC037394,BG751253,DA112406 NP_872429,CAI16143,EAW51767,EAW51768,BAC04282,AAH16848,AAH37394,Q96AQ9,ADQ31622 Hs.126825 C1orf117|FLJ36766|RP11-5P18.9 hypothetical protein LOC348487 protein-coding 1603827 FAM132A family with sequence similarity 132, member A 12477932 388581 NM_001014980,AL162741,BC089443 NP_001014980,CAI23256,AAH89443,Q5T7M4 Hs.197613 C1QDC2|C1QTNF12|MGC105127 C1q domain containing 2|family with sequence similarity 132, member A protein-coding 1606147 FAM132B family with sequence similarity 132, member B 14702039,12477932 151176 XM_001714385,XM_001130886,AC016757,AK094353,BC031951,BC047423,BC063413,XM_003119882 XP_001714437,XP_001130886,AAY24335,BAC04336,AAH47423,Q4G0M1,Q8N9J7,XP_003119930 Hs.24951 FLJ37034 hypothetical protein LOC151176 protein-coding 1602817 FAM133A family with sequence similarity 133, member A 14702039,12477932,16344560 286499 NM_173698,AL009173,CH471115,AK094978,BC113385,BC113387,DA188870,DA230927,DA297338,DA414074,DB084469,NG_016400,NM_001171109,NM_001171110,NM_001171111 NP_775969,CAI42611,EAX02783,BAC04467,AAI13386,AAI13388,Q8N9E0,ADR83353,NP_001164580,NP_001164581,NP_001164582 Hs.110069 CT115|FLJ37659|RP1-32F7.2 OTTHUMP00000023646|cancer/testis antigen 115|hypothetical protein LOC286499 protein-coding 1606931 FAM133B family with sequence similarity 133, member B 16381901,15489336,12690205,12477932,11230166,11076863 257415 BC062706,BC073952,BC090868,BC157872,BU581457,CR625691,NM_001040057,AC005156,CH236949,CH471091,AK125498,AK313692,AL833918,BC017874,BC032461,BC057771,NM_152789 AAH62706,AAH90868,AAI57873,Q5BKY9,CAL37870,CAL38741,NP_690002,NP_001035146,EAL24147,EAW76831,EAW76832,EAW76833,EAW76834,EAW76835,EAW76836,BAG54207,BAG36441,CAD38774,AAH17874,AAH32461,AAH57771 Hs.18564,Hs.470311,Hs.489105 MGC40405 OTTHUMP00000208822|OTTHUMP00000208865|OTTHUMP00000208866|hypothetical protein LOC257415 protein-coding 1315689 FAM134A family with sequence similarity 134, member A 17081983,16303743,16169070,15489334,14702039,12477932,11230166,19212629 79137 NM_024293,AC068946,CH471063,CQ782959,AK026155,AK074983,AK091011,AL136758,AL832843,AL833630,BC002420,BC064950,BC115412,BC141851,BG700888,BG723788,BU615764,CR601842,CR605006,CR608654,CR621281 NP_077269,EAW70689,CAF86188,BAC11332,BAG52263,CAB66692,AAH64950,Q8NC44 Hs.516707 C2orf17|DKFZp686C2379|MGC3035 hypothetical protein LOC79137 protein-coding 1601869 FAM134B family with sequence similarity 134, member B 17487424,12477932,9373149,8125298,19838196,20379614,17207965 54463 NM_001034850,BC053326,NM_019000,AC020980,AC022113,CH471102,AI261750,AK000159,AK024920,AK025808,AK025832,AK225371,AL832438,BC020603,BC030517,BC073132,BG430512,NG_016644 NP_061873,EAX08022,EAX08023,BAA90982,BAB15034,BAB15241,BAB15252,CAH10610,AAH30517,NP_001030022,AAH53326,AAH73132,Q9H6L5,ADQ32021 Hs.481704 FLJ20152|FLJ22155|FLJ22179|JK1 FAM134B protein protein-coding 1601713 FAM134C family with sequence similarity 134, member C 17207965,16344560,14702039,12477932,9373149,8125298,7490091 162427 NR_026697,NM_178126,AC067852,CH471152,AI307353,AK057409,AK091125,AK225797,AK294791,AK308288,BC024980,BC049370,BX647175,BX648069,CR599112,CR621317,DB289370,L38937 ADQ32494,NP_835227,EAW60851,EAW60852,BAG52287,BAG57914,AAH49370,Q86VR2 Hs.632262 FLJ33806 hypothetical protein LOC162427 protein-coding 1312650 FAM135A family with sequence similarity 135, member A 16381901,15489336,14702039,12477932,11230166,11076863,10718198,9373149,8125298,20379614,20549515,20970119 57579 AK002067,AK023639,AK128547,AK225230,AL136820,BC030797,BC065767,BC131782,BM461890,CR749254,DB462733,NM_001105531,NM_001162529,AL078591,AL365226,CH471051,AB037832,AJ420590,AK000183,AK001911,NM_020819 BAA92066,CAB66754,AAH65767,AAI31783,CAH18110,Q5JXJ9,Q9P2D6,CAL37518,CAL37865,CAL37867,CAL38150,CAL38214,AAI46701,NP_001099001,NP_065870,NP_001156001,CAB89265,CAB89266,CAI42417,EAW48814,EAW48815,EAW48816,EAW48817,EAW48818,EAW48819,EAW48820,EAW48821,BAA92649,BAA90995 Hs.211700 DKFZp781H2319|FLJ13577|KIAA1411 OTTHUMP00000218227|OTTHUMP00000218230|OTTHUMP00000218231|hypothetical protein LOC57579 protein-coding 1606292 FAM135B family with sequence similarity 135, member B 16169070,14702039,12477932,9110174,8619474,20125193 51059 NM_015912,AC068467,AC087711,AC103777,CH471060,AB196635,AF131744,AK091433,BC037288,BC106912,BC106913,BX110118,CR457147,CR936831 NP_056996,EAW92189,EAW92190,EAW92191,BAE53437,AAD20030,AAH37288,AAI06913,AAI06914,CAG33428,Q49AJ0 Hs.126024 C8ORFK32|MGC126009|MGC126010|MGC33221 OTTHUMP00000194813|OTTHUMP00000194814|hypothetical protein LOC51059 protein-coding 1605923 FAM136A family with sequence similarity 136, member A 15231747,11256614,16381901,16344560,15489336,20877624,12477932,14702039,11230166,11076863,9373149,8889548,8125298 84908 NM_032822,AC022201,CH471053,AK027574,AK225148,AK225151,AK309543,AK315877,AL833147,BC014975,BC026293,CB853567,CR595145,CR596266,CR599147,CR602118,CR603527,CR612968,CR613530,CR614789,CR621809,CR623290,CR626290,DB266394 Q96C01,CAL38017,NP_116211,AAX93110,EAW99815,EAW99816,BAB55208,BAF98768,AAH14975 Hs.516077,Hs.714390 FLJ14668 OTTHUMP00000204043|hypothetical protein LOC84908 protein-coding 1345211 FAM136B family with sequence similarity 136, member B 20877624 387071 NM_001012983,AL031963,CH471087 NP_001013001,EAW55113 Hs.713522 C6orf87|FAM136B|dJ40E16.3 hypothetical protein LOC387071 protein-coding 2303654 FAM138A family with sequence similarity 138, member A 16710414,15815621,15233989,15164053,15057824,11779631 645520 NR_026818,AL627309,AY341950 AAQ76863,Q6VEP3 Hs.569137 F379 miscrna 2303666 FAM138B family with sequence similarity 138, member B 15233989,12421752,11779631 654412 NR_026821,AL078621,AF346307,AY341948 AAM93543,AAQ76861,Q6VEP3 Hs.640260 F379|bA395L14.6 miscrna 2303658 FAM138C family with sequence similarity 138, member C 15233989,11779631 654835 NR_026822,AL449043,AY341949,AY341953 CAM13098,CAM13099,AAQ76862,AAQ76866,Q6VEP3 Hs.640260,Hs.660675 F379 miscrna 2303678 FAM138D family with sequence similarity 138, member D 15233989,11779631 677784 NR_026823,AC026369,AY341951 AAQ76864,Q6VEP2 Hs.722487 F379 miscrna 2303669 FAM138E family with sequence similarity 138, member E 15233989,11779631 100124412 NR_026819,AC140725,AF282042 F379 miscrna 2303679 FAM138F family with sequence similarity 138, member F 15233989,12477932,11779631 641702 NR_026820,AC008993,AY341952 AAQ76865,Q6VEP3 Hs.640260 F379|MGC168827 miscrna 1320343 FAM13A1 family with sequence similarity 13, member A1 16964243,15302935,15234000,14702039,12477932,10048485,9314494,20656943,19724895,19851296,19875103,20010835,20173748,20198315,20379614 10144 NM_014883,NM_001015045,AC021183,AC079141,AC108065,CH471057,AB020721,AF009202,AK027138,AK091328,AK091787,AK091881,AK123724,BC033006,BC041029,BC053569,BC058029,BC063126,BC086875,BN000265,BX647410,CR610852,CR615111,AK296932,AK298262 NP_055698,NP_001015045,EAX06028,BAA74937,BAC03636,AAH63126,AAH86875,CAE18110,O94988,Q6P521,BAG59483,BAG60526 Hs.97270 FAM13A1|FLJ34562|MGC105131 FAM13A1_v2 protein|OTTHUMP00000219529|OTTHUMP00000219532|OTTHUMP00000219533|OTTHUMP00000219539|family with sequence similarity 13, member A1 protein-coding 1344753 FAM13AOS FAM13A opposite strand (non-protein coding) 16344560,15234000,14702039 285512 NR_002806,AC108065,AK093650,AK126217,BN000087,DB305148 Hs.725214 FAM13A1OS|FLJ36331|NCRNA00039 miscrna 1321412 FAM13B1 family with sequence similarity 13, member B1 16344560,15489334,12477932,11161817,11087669,10931946,20936779 51306 NM_001101801,NM_001101800,NM_016603,AC106753,AC113382,CH471062,AF157316,AF251038,AK130245,AK314224,AL833699,AW592656,BC041335,BC048965,BC056887,BU183000,CR611121,DA499233 NP_001095271,NP_001095270,NP_057687,EAW62170,EAW62171,EAW62172,EAW62173,AAF67482,AAF63764,BAG36896,AAH48965,AAH56887,Q3ZCR0,Q9NYF5,ACE87468,ACE86782 Hs.567453 C5orf5|DKFZp667F249|FAM13B1|FLJ26735|KHCHP|MGC57159|N61 family with sequence similarity 13, member B1|hypothetical protein LOC51306 protein-coding 1320881 FAM13C1 family with sequence similarity 13, member C1 16344560,16385451,20200953,16189514,15489334,12477932,9110174,8889548,8619474 220965 AK294805,AK316542,BM714192,BP394664,DA188937,NM_001166698,NM_198215,NM_001001971,NM_001143773,AC025038,AL355474,CH471083,AI453702,AK289796,AK299924,BC036453,BC064431,BM677909,U79304 BAH11889,BAH14913,NP_001160170,NP_937858,NP_001001971,NP_001137245,CAI15708,CAI15709,CAI15710,EAW54187,EAW54188,EAW54189,EAW54190,EAW54191,EAW54192,EAW54193,BAF82485,BAG61759,AAH36453,AAH64431,AAB50228,Q5T630,Q5T632,Q8NE31,ABM85330,ABW03713 Hs.607594,Hs.499704 FAM13C1|MGC33233 OTTHUMP00000019640|OTTHUMP00000019642|OTTHUMP00000217373|OTTHUMP00000217376|OTTHUMP00000217377|family with sequence similarity 13, member C1|hypothetical protein LOC220965 protein-coding 1606712 FAM148A family with sequence similarity 148, member A 20818381,16341674,15527968 145741 NM_207322,AC104590,CH471082,AF504646,BF196228,BM742013,BX648578 NP_997205,EAW77609,AAM28197,Q8NCU7,AAI72259 Hs.202656 DKFZp686O2263|FAM148A|NLF1 C2 calcium-dependent domain-containing protein 4A|family with sequence similarity 148, member A|nuclear localized factor 1|nuclear-localized factor 1 protein-coding 1604924 FAM148B family with sequence similarity 148, member B 16344560,15527968,8889548,20081858,20185807,20419449,20862305,20571754,20818381 388125 NM_001007595,AC126323,AW292865,BM023530,BM127548,BM850957,BM974537,BQ101161,BX109954,DA584890 NP_001007596,A6NLJ0,AAI72378 Hs.144372 FAM148B|NLF2 C2 calcium-dependent domain-containing protein 4B|family with sequence similarity 148, member B|nuclear localized factor 2|nuclear-localized factor 2 protein-coding 1351171 FAM148C family with sequence similarity 148, member C 11853319,15527968 126567 NM_001136263,AC008988,CH471242,AB075837,AL834341,CR609064,CR616939 NP_001129735,EAW61198,EAW61199,EAW61200,BAB85543,CAD39008,Q8TF44 Hs.223770 FAM148C|KIAA1957|NLF3 C2 calcium-dependent domain-containing protein 4C|family with sequence similarity 148, member C|nuclear localized factor 3|nuclear-localized factor 3 protein-coding 1604030 FAM149A family with sequence similarity 149, member A 14702039,12477932,8889548 25854 NM_015398,NM_001006655,AC110771,CH471056,AF173894,AK057166,AK295340,AK297679,AK309233,AK311462,AL080065,BC110816,BC136792,BC142992,BC144411,BM543645,BM926763,BQ884007,BU609191,CR621440,H17463 NP_056213,NP_001006656,EAX04625,EAX04626,EAX04627,AAQ13641,BAG51873,BAG58311,BAH12648,CAB45695,AAI10817,AAI36793,AAI42993,AAI44412,A5PLN7,AAI43082,AAI43083 Hs.357025 DKFZp564J102|MST119|MSTP119 OTTHUMP00000218486|OTTHUMP00000218497|OTTHUMP00000218498|hypothetical protein LOC25854 protein-coding 1351219 FAM149B1 family with sequence similarity 149, member B1 737633 10231032,8889548,14702039,12477932 737633 317662 NM_173348,AC016394,CH471083,AB023191,AK023439,AK025189,BC015394,BM977866,DC340839,AK303436 NP_775483,EAW54482,BAA76818,BAG51194,AAH15394,Q96BN6,BAG64484 Hs.725221 KIAA0974 OTTHUMP00000071138|hypothetical protein LOC317662 protein-coding 1604440 FAM150A family with sequence similarity 150, member A 12975309,12477932 389658 NM_207413,AC013650,AI858920,AY358213,BC130641,BC130643,BC144534,BP423106 ADR83463,NP_997296,AAQ88580,AAI30642,AAI30644,AAI44535,Q6UXT8 Hs.527111 MGC163513|MGC163515|UNQ9433 RPLK9433|hypothetical protein LOC389658 protein-coding 1602961 FAM150B family with sequence similarity 150, member B 12975309,11181995 285016 NM_001002919,AC079779,CH471053,AI300876,AI769402,AY358517,BC033490 NP_001002919,EAX01104,EAX01105,EAX01106,EAX01107,EAX01108,EAX01109,EAX01110,AAQ88881,Q6UX46,AAI41486,AAI48770 Hs.355207 PRO1097|RGPG542 OTTHUMP00000199917|OTTHUMP00000199918|OTTHUMP00000199919|OTTHUMP00000199920|OTTHUMP00000199921|hypothetical protein LOC285016 protein-coding 1603341 FAM151A family with sequence similarity 151, member A 19913121,20628086,17273976,16344560,14702039,12975309,12477932,20379614 338094 NM_176782,AL590093,CH471059,AK091901,AY358629,BC015993,BC020874,BC073921,DB335516 NP_788954,CAH71607,CAH71608,EAX06685,EAX06686,BAC03768,AAQ88992,AAH15993,AAH20874,AAH73921,Q8WW52 Hs.725307,Hs.234786 C1orf179|MGC27169 OTTHUMP00000011522|hyporthetical protein MGC27169|hypothetical protein LOC338094 protein-coding 1603888 FAM151B family with sequence similarity 151, member B 12975309,12477932 167555 NM_205548,AC008771,AC018764,CH471084,AY358256,BC131563,BC142990 NP_991111,EAW95854,EAW95855,EAW95856,AAQ88623,AAI31564,Q6UXP7 Hs.338182 UNQ9217 AASA9217|hypothetical protein LOC167555 protein-coding 1604707 FAM153A family with sequence similarity 153, member A 16344560,16189514,12477932,10508479,9872452 285596 NM_173663,AC140125,AB018295,AF155097,AK289518,DA217331,DB043399,DB046513 NP_775934,BAA34472,AAD42863,BAF82207,Q9UHL3,AAI66656 Hs.646912,Hs.652754 FLJ75901|KIAA0752|NY-REN-7 NY REN 7 antigen|NY-REN-7 antigen|OTTHUMP00000223786|OTTHUMP00000223787|hypothetical protein LOC285596 protein-coding 2292084 FAM153B family with sequence similarity 153, member B 16344560,14702039,12477932,9776767 202134 NM_001079529,AC139491,AK055006,AL042735,AL117630,AW072245,BC028606,CD580216,DA224878,DB291737 NP_001072997,AAH28606,P0C7A2 Hs.646912,Hs.655683 DKFZp434D115 OTTHUMP00000223257|OTTHUMP00000223259|OTTHUMP00000223260|OTTHUMP00000223262|hypothetical protein LOC202134 protein-coding 2289766 FAM153C family with sequence similarity 153, member C 14702039,12477932 653316 BC171810,NM_001079527,AC136632,AC136940,AK123124,BC101338,BC101339,BC101340,BC101341,BC131737,BC146883,BC146888 AAI71810,NP_001072995,AAI01339,AAI01340,AAI01341,AAI01342,AAI31738,AAI46884,AAI46889,Q494X1 Hs.646916,Hs.652193 NY-REN-7-like OTTHUMP00000223992|OTTHUMP00000223993|OTTHUMP00000223994|hypothetical protein LOC653316 protein-coding 1322281 FAM154A family with sequence similarity 154, member A 737633 15489334,15164053,14702039,12477932,20379614,16344560 737633 158297 NM_153707,AL158150,AL356000,CH471071,AK057474,AK292245,BC033489,AA992255,DB035807,DB038218 NP_714918,CAH71465,CAH71466,CAH72135,EAW58654,BAG51919,BAF84934,AAH33489,Q5VZT6,Q8IYX7 Hs.98943 C9orf138|FLJ35283|MGC35182 4930500O09Rik|OTTHUMP00000021091|hypothetical protein LOC158297 protein-coding 1606117 FAM154B family with sequence similarity 154, member B 283726 NM_001008226,AC026624,CH471136,AK304339,AL833762 NP_001008227,EAW99085,BAG65184,CAH56241,Q658L1 Hs.459117 DKFZp666G057 hypothetical protein LOC283726 protein-coding 2293495 FAM155A family with sequence similarity 155, member A 20800221,16344560,12477932,8889549,8325628,18951430,20379614,21079607 728215 NM_001080396,AL136964,AL137219,AL138710,AL138914,AL359831,AL445204,AL445649,AK295445,AW592075,BC146878,BC157830,BC157855,BC157862,DA779672,L10374,N69765 NP_001073865,CAH72762,CAH70702,CAH71549,BAH12070,AAI46879,AAI57831,AAI57856,AAI57863,B1AL88 Hs.598102,Hs.593580 transmembrane protein FAM155A protein-coding 1350785 FAM155B family with sequence similarity 155, member B 1580863 12477932 27112 NM_015686,AL158069,CH471132,AF087142,BC136518,BC136519,NG_021282 NP_056501,CAD18889,EAX05363,EAX05364,AAC62086,AAI36519,AAI36520,O75949 Hs.87619 CXorf63|TED|TMEM28|bB57D9.1 bB57D9.1 (TED protein)|transmembrane protein 28|transmembrane protein FAM155B protein-coding 1346543 FAM156A family with sequence similarity 156, member A 737633,1580863 11256614,16381901,16189514,15772651,15489336,15489334,14702039,12477932,11230166,11076863 737633 29057 NM_014138,AL807736,CH471283,AF090943,AF370413,AK054721,AK057692,AK091598,AK092365,AK096162,AL834135,BC000867,BC067819,BX649013,CR602587,CR603409,CR604137,CR609149,CR749619 NP_054857,CAI42486,CAI42487,CAI42488,CAI42489,CAI42490,CAI42491,CAI42492,EAW57547,AAF24055,AAQ15249,BAG51954,BAG52389,BAG52539,BAG53221,CAD38851,AAH00867,AAH67819,CAH18413,Q8NDB6,CAL38064 Hs.653131 DKFZp686B22211|PRO0659|TMEM29 OTTHUMP00000023325|OTTHUMP00000023328|OTTHUMP00000023329|OTTHUMP00000023330|OTTHUMP00000023331|OTTHUMP00000023332|OTTHUMP00000023333|OTTHUMP00000218433|OTTHUMP00000218434|OTTHUMP00000218435|OTTHUMP00000218436|OTTHUMP00000218438|family with sequence similarity 156, member A|transmembrane protein 29 protein-coding 1626581 FAM156B family with sequence similarity 156, member B 11256614,16382448,15772651,15489334 727866 NM_001099684,AL445236,AL772208,AX405861 NP_001093154,CAD34968,Q8NDB6 Hs.6451 FLJ33130|FLJ38843|TMEM29B OTTHUMP00000218311|OTTHUMP00000218312|OTTHUMP00000218313|OTTHUMP00000218314|OTTHUMP00000218315|OTTHUMP00000218316|family with sequence similarity 156, member B|transmembrane protein 29-like|transmembrane protein 29B protein-coding 2303674 FAM157A family with sequence similarity 157, member A 728262 NM_001145248,AC073135 C9JC47,NP_001138720 Hs.631932 family with sequence similarity 157, member A protein-coding 2303657 FAM157B family with sequence similarity 157, member B 15164053,14702039 100132403 NM_001145249,AL954642 P0CG42,NP_001138721 Hs.711387 Putative protein FAM157B|family with sequence similarity 157, member B protein-coding 2303665 FAM157C family with sequence similarity 157, member C 15616553,14702039 100132055 XM_001714162,AC133919,AK092558 P0CG43,XP_001714214 Hs.652849 DKFZp434B2016|FLJ35239 Putative protein FAM157C|family with sequence similarity 157, member C|hypothetical protein LOC100132055 protein-coding 1317698 FAM158A family with sequence similarity 158, member A 16189514,15489334,12477932,10810093 51016 NM_016049,AL136295,CH471078,AF151870,AY368908,BC002491 NP_057133,EAW66103,EAW66104,AAD34107,AAQ83690,AAH02491,Q6UJX3,Q9Y3B6 Hs.271614 C14orf122|CGI-112 OTTHUMP00000164687|hypothetical protein LOC51016 protein-coding 1601694 FAM159A family with sequence similarity 159, member A 12975309,12477932 348378 NM_001042693,AC099784,AL356976,CH471059,AK128236,AY358621,BC041608 NP_001036158,EAX06773,EAX06774,EAX06775,BAC87346,AAQ88984,Q6UWV7 Hs.424589 MGC52498|PRO7171|WWLS2783 membrane protein FAM159A protein-coding 2293813 FAM159B family with sequence similarity 159, member B 15372022 100132916 NM_001164442,AC008898,CH471137,BQ271827,BU785751,BU952508 NP_001157914,EAW51370,A6NKW6 Hs.591776 membrane protein FAM159B protein-coding 2293812 FAM160A1 family with sequence similarity 160, member A1 16344560,12477932,10737800,8889549,20379614 729830 NM_001109977,AC092611,AC097455,AA021504,AK125363,BC014937,CV410375,DA722299,AC079795 NP_001103447,BAC86147,AAH14937,Q05DH4 Hs.633810 FLJ43373 OTTHUMP00000220552|family with sequence similarity 160, member A1|hypothetical protein LOC729830 protein-coding 1604775 FAM160A2 family with sequence similarity 160, member A2 16381901,16344560,16189514,15489336,15489334,14702039,12477932,11256614,11230166,11214970,11076863,18799622 84067 DA389621,BC030825,NM_032127,NM_001098794,AC022762,CH471064,AB051546,AK056468,AK291702,AL136723 EAW68740,CAB66657,AAH30825,Q8N612,ACE87654,ACE86964,NP_115503,NP_001092264,EAW68737,EAW68738,EAW68739,BAB21850,BAG51722,BAF84391 Hs.501793 C11orf56|DKFZp566M1046|FLJ22665|KIAA1759 FHIP|FTS and Hook-interacting protein protein-coding 1314542 FAM160B1 family with sequence similarity 160, member B1 737633 12477932,10997877 737633 57700 NM_020940,NM_001135051,AL137025,AB046820,AI521900,AL833226,BC037207,CR933692 NP_065991,NP_001128523,CAH69998,CAH69999,CAH70000,CAH70001,BAB13426,AAH37207,CAI45992,Q5W0V3,Q5W0V4 Hs.192619 DKFZp686D10123|KIAA1600|RP11-106M7.3|bA106M7.3 hypothetical protein LOC57700 protein-coding 1318892 FAM160B2 family with sequence similarity 160, member B2 19122663,15146197,14702039,12477932 64760 AC091171,CH471080,AF318332,AF495722,AK001987,AK025411,AK025454,AK055191,AK095924,AK126408,AK294646,AK315634,BC012865,BC013350,NM_022749,BC052237,BC112147,CN307828 NP_073586,EAW63720,EAW63721,EAW63722,EAW63723,AAL55839,AAQ06676,BAB15137,BAG51483,BAG57823,BAG38002,AAH12865,AAH52237,AAI12148,Q86V87,AAH13350,Q8WYW6 Hs.491223 FLJ11125|FLJ21801|MGC138352|RAI16 retinoic acid induced 16 protein-coding 2293814 FAM161A family with sequence similarity 161, member A 20705278,20705279,16381901,15489336,14702039,12477932,11230166,11076863,16169070 84140 NM_032180,AC107081,CH471053,AK023367,AK310908,BC036448,BC107162,BC107163,BX648834,BX649029,DC398889,AK296255,AI690681,NM_001201543,NR_037710 NP_115556,EAW99988,EAW99989,EAW99990,EAW99991,BAB14544,Q3B820,CAL37420,CAL37710,CAL38395,BAG58969,NP_001188472 Hs.440466 FLJ13305|MGC129982|MGC129983|RP28 OTTHUMP00000201353|hypothetical protein LOC84140|protein FAM161A protein-coding 1319187 FAM161B family with sequence similarity 161, member B 15489334,14702039,12477932,7566098 145483 NM_152445,AC005480,CH471061,AK056259,BC053909,CR749537,AK302982 NP_689658,EAW81144,EAW81145,BAB71131,AAH53909,Q96MY7,BAH13868 Hs.660789 C14orf44|FLJ31697|c14_5547 hypothetical protein LOC145483 protein-coding 1603057 FAM162A family with sequence similarity 162, member A 19520982,19269009,16698020,15489334,15082785,14702039,12477932,11085516,20840676,20705733,20877624 26355 NM_014367,AC083798,CH471052,AF107495,AF191020,AF201944,AF250321,AK026030,AK125835,AK293994,BC015060,BI460077,CR597309,CR603838,CR605172,BC010896 NP_055182,EAW79486,AAG39275,AAF09484,AAF86880,AAG44569,BAG57358,AAH10896,AAH15060,Q96A26,Q9H2P1 Hs.584881 C3orf28|E2IG5|HGTD-P HIF-1 alpha-responsive proapoptotic molecule|OTTHUMP00000215579|OTTHUMP00000215580|growth and transformation-dependent protein protein-coding 1351794 FAM162B family with sequence similarity 162, member B 15489334,14574404,12477932,8889549,20379614 221303 NM_001085480,AL354716,CH471051,BC038997,H71557,H71562 NP_001078949,CAI16921,EAW48215,AAH38997,Q5T6X4 Hs.126712 C6orf189|bA86F4.2 hypothetical protein LOC221303 protein-coding 1605572 FAM163A family with sequence similarity 163, member A 19671756,20379614,15489334,17208556,16710414,12477932 148753 NM_173509,AL359853,CH471067,AB299025,AK292432,AK302665,AK310711,AK313887,AY902195,BC009382,CR594925 NP_775780,CAH70381,EAW91055,BAF96730,BAF85121,BAG63900,BAG36612,AAX07133,AAH09382,Q96GL9,ABM84042,ABM87389 Hs.400696 C1orf76|MGC16664|NDSP|RP11-12M5.2|cebelin cebelin|family with sequence similarity 163, member A|neuroblastoma derived secretory protein protein-coding 1604863 FAM163B family with sequence similarity 163, member B 12477932,15164053,10737800 642968 NM_001080515,BX629352,BC146946,BC146961,BF365944 P0C2L3,AAI52888,AAI56626,AAI56837,NP_001073984,AAI46947,AAI46962 Hs.709706 C9orf166 OTTHUMP00000215809|hypothetical LOC642968|hypothetical protein LOC642968 protein-coding 1602891 FAM164A family with sequence similarity 164, member A 16964243,16344560,15489334,14702039,12477932,10810093,17207965 51101 NM_016010,AC100854,CH471068,AF151820,AK024711,AK094296,AK313723,BC009074,BC035905,BU075578,DA137885 NP_057094,EAW87059,AAD34057,BAG36465,AAH09074,Q96GY0,ADQ32292 Hs.271876 C8orf70|CGI-62 hypothetical protein LOC51101 protein-coding 1316129 FAM164C family with sequence similarity 164, member C 16189514,15489334,14702039,12477932,9373149 79696 AK026746,AK223359,AK303882,BC004259,BQ061857,N62812,NM_024643,NM_001042430,AL049780,CH471061 EAW81218,EAW81219,BAB15541,BAD97079,BAG64818,AAH04259,Q53FD0,EAW81217,NP_078919,NP_001035895 Hs.48642 C14orf140|FLJ23093 chromosome 14 open reading frame 140 protein-coding 1346186 FAM165A family with sequence similarity 165, member A 387100 AL355615 CAI13514,Q5T5W8 C6orf161|bA33E24.4 family with sequence similarity 165, member A protein-coding 1351649 FAM165B family with sequence similarity 165, member B 20379614,15489334,14702039,12477932,12036298,11707072,10830953,7566098 54065 NM_058182,AP000320,AP000321,AP000322,CH471079,AK057880,AK092693,AY033902,AY081143,AY081144,BC015596,BC045820,BC064410,BF795619,BI460535,BM989806,CR615562 NP_478062,EAX09785,EAX09786,EAX09787,EAX09788,AAK68720,AAL91137,AAL91138,AAH15596,P58511,Q8TCY0 Hs.656195 C21orf51 chromosome 21 open reading frame 51 protein-coding 1603805 FAM166A family with sequence similarity 166, member A 14702039,12477932 401565 NM_001001710,BX255925,CH471090,AK097419,AY604177,BC132916,BC132918 NP_001001710,EAW88371,EAW88372,BAC05044,AAT36740,AAI32917,AAI32919,Q6J272,ADR83124 Hs.522530 FLJ40100|HSD46 hypothetical protein LOC401565 protein-coding 2293907 FAM166B family with sequence similarity 166, member B 12477932 730112 AI383111,NM_001164310,NM_001099951,AL133476,BC129999,BC146928,BC146933,BC171840,BC171851 NP_001157782,NP_001093421,CAX14972,AAI30000,AAI46929,AAI46934,AAI71840,AAI71851,A8MTA8 Hs.98959 MGC157846 hypothetical protein LOC730112 protein-coding 1344184 FAM167A family with sequence similarity 167, member A 19180478,19110536,18204098,12477932,11896452,19740902,20131239,20156505,20379614,20848568,20861858 83648 NM_053279,AF131216,CH471157,AJ301564,AK290704,AL157475,AL522457,AL834122,BC029587,BC048214,BC104041,BC104042,BC104043 NP_444509,EAW65616,CAC82740,BAF83393,CAB75670,CAD38843,AAH48214,AAI04042,AAI04043,AAI04044,Q86Y02,Q96KS9,ACE87786,ACT64454 Hs.124299 C8orf13|D8S265|DKFZp761G151|MGC120649|MGC120650|MGC120651 hypothetical protein LOC83648 protein-coding 1606487 FAM167B family with sequence similarity 167, member B 16710414,15489334,12477932,19913121,20628086 84734 NM_032648,AL121991,CH471059,BC004269,BG282224,BX091465 NP_116037,CAI22319,EAX07547,EAX07548,AAH04269,Q9BTA0 Hs.18449 C1orf90|MGC10820 hypothetical protein LOC84734 protein-coding 1604050 FAM168A family with sequence similarity 168, member A 17207965,15489334,12477932,9039502 23201 CH471076,NM_015159,AP000763,AP000860,AK292054,BC014932,BC052341,D87470,EF197985,EF363480 EAW74899,ADQ33044,NP_055974,BAF84743,AAH52341,BAA13408,ABM69272,ABM69287,Q92567 Hs.475334 KIAA0280|TCRP1 hypothetical protein LOC23201|tongue cancer chemotherapy resistance-associated protein 1 protein-coding 1606974 FAM168B family with sequence similarity 168, member B 14702039,12477932 130074 AL137413,AL833819,AY253283,BC035115,BC066347,BC110642,BC127804,BX647486,CR590062,CR609575,DB453209,AL137406,NM_001009993,AC009477,CH471250,AK022529,AK023868 CAH10735,AAP79599,AAH66347,AAI10643,A1KXE4,Q69YH2,NP_001009993,EAW51267,EAW51268 Hs.534679 MGC87527 hypothetical protein LOC130074|p20 protein-coding 2300032 FAM169A family with sequence similarity 169, member A 14702039,12477932,10048485 26049 BC040298,BC044766,BX494462,BX640902,BX647536,NM_015566,AC010501,AC093214,CH471084,AB020695,AK022981,AK290004,CR936791 BAF82693,CAE45948,Q9Y6X4,NP_056381,EAW95750,BAA74911,BAB14344 Hs.91662 KIAA0888 OTTHUMP00000222944|hypothetical protein LOC26049 protein-coding 1602962 FAM169B family with sequence similarity 169, member B 14702039 283777 NM_182562,AC103968,AC118658,AK097062 NP_872368,BAC04940,Q8N8A8,AAI46359,AAI48844 Hs.668070 FLJ39743 hypothetical protein LOC283777 protein-coding 1602273 FAM170A family with sequence similarity 170, member A 20162441,12477932 340069 NM_182761,AC010409,AF427126,AY692447,BC040622,BC128242,BC128243,NM_001163991 NP_877438,AAP97296,AAU04855,AAH40622,AAI28243,AAI28244,A1A519,NP_001157463 Hs.713304 MGC149385|ZNFD OTTHUMP00000222957|OTTHUMP00000222958|Znf domain containing protein|family with sequence similarity 170, member A protein-coding 1346857 FAM170B family with sequence similarity 170, member B 12477932 170370 NM_001164484,AC084727,BC029839,BC047597 NP_001157956,AAH29839,AAH47597,A6NMN3 Hs.646291 C10orf73 putative protein FAM170B protein-coding 1313160 FAM171A1 family with sequence similarity 171, member A1 15489334,15164054,14702039,12477932,20379614 221061 NM_001010924,AL139338,AL590365,AL607028,CH471072,AK022946,AL050367,AY683003,BC034232,BC109302,BC109303,BX496483 NP_001010924,CAI12244,CAH73963,CAI12941,EAW86236,EAW86237,BAG51141,CAB43675,AAV85904,AAH34232,AAI09303,AAI09304,Q5VUB5,Q9Y438 Hs.66762 C10orf38|FLJ12884|MGC130014|MGC130015 hypothetical protein LOC221061 protein-coding 2298821 FAM171A2 family with sequence similarity 171, member A2 12477932 284069 NM_198475,AC003043,CH471178,BC029298,BC030200 NP_940877,EAW51598,AAH30200,A8MVW0,Q8N0U1 Hs.154001 MGC34829 hypothetical protein LOC284069 protein-coding 1354368 FAM171B family with sequence similarity 171, member B 737633 14702039,12477932,11853319 737633 165215 NM_177454,AC017101,CH471058,AB075826,AF361495,AK091423,AK094578,AK095604,AK289737,AL834264,BC036478,BC060872 NP_803237,AAY24258,EAX10930,EAX10931,EAX10932,BAB85532,AAL57220,BAC03660,BAC04380,BAC04586,BAF82426,CAD38939,AAH36478,AAH60872,Q6P995 Hs.28872 FLJ34104|KIAA1946 KIAA1946 protein-coding 1605018 FAM172A family with sequence similarity 172, member A 20818486,16381901,15489336,12477932,11256614,11230166,11076863,9110174,8619474,20137623,20379614 83989 NM_032042,NM_001163417,NM_001163418,NR_028080,AC093268,AC099501,AC106818,AC108102,AC114980,AC117528,CH471084,AF070617,AK295127,AK295879,AK296683,AK296986,AK297471,AK312930,AL136630,BC012007,BC020584,BP398089,DC324758,DC374283,W15296 NP_114431,NP_001156889,NP_001156890,EAW96011,EAW96012,EAW96013,EAW96014,BAG58152,BAG58676,BAG59279,BAG59527,BAG59892,BAG35773,CAB66565,AAH20584,Q8WUF8,CAL37653,CAL37760 Hs.600086 C5orf21|DKFZp564D172 OTTHUMP00000222439|OTTHUMP00000222440|OTTHUMP00000222441|OTTHUMP00000222442|hypothetical protein LOC83989 protein-coding 2298809 FAM172B family with sequence similarity 172, member B pseudogene 131909 AC073861,AK127584,EG328077,NR_036433 A6NC97 Hs.518125 FLJ45679 pseudo 1343313 FAM173A family with sequence similarity 173, member A 16169070,15489334,12477932,11157797 65990 BC002624,NM_023933,AE006464,CH471112,Z98258,AK123186,BC001181 AAH01181,AAH02624,Q9BQD7,NP_076422,AAK61248,EAW85746,CAM26478 Hs.166244 C16orf24|MGC2494 hypothetical protein LOC65990 protein-coding 1603183 FAM173B family with sequence similarity 173, member B 14702039,12477932,8681137,20379614,17207965 134145 NM_199133,AC012640,AC034229,CH471102,AA856750,AK000674,AK055604,AK123462,AK300042,AK302012,AK316317,BC048801,BC063406,F29251 NP_954584,EAX08073,EAX08074,BAG61853,BAG63414,BAH14688,AAH63406,Q6P4H8,ADQ32608 Hs.481569 FLJ20667 OTTHUMP00000220722|OTTHUMP00000220723|hypothetical protein LOC134145 protein-coding 1601696 FAM174A family with sequence similarity 174, member A 15489334,12975309,12477932 345757 NM_198507,AC021086,CH471086,AF529367,AK289539,AY359108,BC027332,CR601145 NP_940909,EAW49106,AAQ09601,BAF82228,AAQ89466,AAH27332,Q8TBP5 Hs.356108 MGC17345|TMEM157|UNQ1912 HCV NS5A-transactivated protein 6|HGS_RE408|hepatitis C virus NS5A-transactivated protein 6|membrane protein FAM174A|transmembrane protein 157 protein-coding 1606862 FAM174B family with sequence similarity 174, member B 16303743,12477932,21160409 400451 NM_207446,AC091544,CH471101,CS051461,AK075564,AL110139,AL110289,BC031970,BC045729,BC060873,BC110328,CR606671 NP_997329,EAX02154,EAX02155,CAI72222,BAC11703,AAH45729,AAH60873,Q3ZCQ3 Hs.27373 MGC102891 membrane protein FAM174B protein-coding 1604576 FAM175A family with sequence similarity 175, member A 19261749,17525340,17643121,19261748,19261746,19415121,18695986,18270812,18077395,17643122,16344560,15489334,14702039,12975309,12477932,19615732 84142 NM_139076,AC096768,CH471057,AK021582,AK022704,AK023676,AY358576,BC016905,BC039573,BQ775930,DA765424,EF531340 NP_620775,EAX05941,EAX05942,EAX05943,BAB14189,BAB14635,AAQ88939,AAH16905,AAH39573,ABP87396,Q6UWZ7,Q96AN9 Hs.334772 ABRA1|CCDC98|FLJ11520|FLJ12642|FLJ13614 BRCA1-A complex subunit Abraxas|OTTHUMP00000221470|abraxas protein|coiled-coil domain containing 98|coiled-coil domain-containing protein 98 protein-coding 1318962 FAM175B family with sequence similarity 175, member B 737633 19261749,17353931,19214193,19615732,17081983,16344560,15489334,15231748,15144186,12477932,8590280 737633 23172 NM_032182,AC068896,CH471066,AK025991,AK296677,AL537809,BC008999,BQ000004,D63877,DA148097 NP_115558,EAW49256,EAW49257,BAG59274,AAH08999,BAA09927,Q15018 Hs.280695 ABRO1|FLJ22338|KIAA0157 BRISC complex subunit Abro1|abraxas brother 1|abraxas brother protein 1 protein-coding 1604577 FAM176A family with sequence similarity 176, member A 18029348,17492404,15815621,15498874,15489334,15342556,14702039,12477932,16169070,20379614 84141 NM_032181,NM_001135032,AC007099,CH471053,AF177337,AK023453,AW016395,BC016157,BC063016,BE892427,BP276065,CR457314,CR615454 NP_115557,NP_001128504,AAY14774,EAW99591,EAW99592,EAW99593,EAW99594,AAG17981,BAB14580,AAH16157,AAH63016,CAG33595,Q9H8M9 Hs.302346 FLJ13391|TMEM166 OTTHUMP00000202774|OTTHUMP00000202775|OTTHUMP00000202776|OTTHUMP00000202777|family with sequence similarity 176, member A|transmembrane protein 166 protein-coding 1602695 FAM176B family with sequence similarity 176, member B 16710414,15489334,14702039,12477932 55194 NM_018166,AL591845,CH471059,AK001509,BC006241,BC071697,GN344031 NP_060636,CAH71861,EAX07377,EAX07378,BAA91729,AAH06241,AAH71697,Q9NVM1,CAY55951 Hs.87016 C1orf78|FLJ10647|RP11-268J15.2 hypothetical protein LOC55194 protein-coding 1342850 FAM177A1 family with sequence similarity 177, member A1 15489334,14702039,12477932,19663910 283635 NM_001079519,NM_173607,AL049776,CH471078,AI148967,AK096173,AL833508,BC029559,BX640884,BX640984,CR749796 NP_001072987,NP_775878,EAW65892,BAC04716,AAH29559,CAH18656,Q8N128 Hs.446357 C14orf24|DKFZp686J1254|FLJ38854 hypothetical protein LOC283635 protein-coding 2301270 FAM177A2 family with sequence similarity 177, member A2 15815621,9847074 728710 NG_011746,AC019131 A8MTS5 pseudo 1605784 FAM177B family with sequence similarity 177, member B 19734545 400823 NM_207468,AL392172,AK125494,CA848039 NP_997351,CAO03435,CAO03436,CAO03437,BAC86182,A6PVY3 Hs.697608 FLJ43505|RP11-452F19.2 OTTHUMP00000196554|OTTHUMP00000196556|OTTHUMP00000196557|hypothetical protein LOC400823|novel transcript protein-coding 1349080 FAM178A family with sequence similarity 178, member A 17081983,15164054,14702039,12477932,12459258,16385451 55719 NM_001136123,NR_024245,AL133215,AL138762,CH471066,AA829402,AF460991,NM_018121,AF460992,AI282394,AK001374,AK024283,AK057741,AK292565,AL832343,AL832383,AL833126,BC015131,BC020915,BC030565,BC047715,BC064526,BC073832,CR614509 NP_060591,NP_001129595,CAI10931,CAI10932,CAI10933,CAH70948,CAH70949,CAH70950,EAW49805,EAW49806,EAW49807,EAW49808,AAN84475,BAA91657,BAB71557,BAF85254,AAH20915,AAH47715,AAH73832,Q05BG6,Q6GMU6,Q8IX21,Q8WW40,Q96LW0,AAI60007 Hs.447458 C10orf6|MGC90157 hypothetical protein LOC55719 protein-coding 1605679 FAM178B family with sequence similarity 178, member B 16344560,12477932,11042152,16169070 51252 NM_016490,NM_001122646,AC079395,AC092636,CH471207,AF151068,AJ710728,AK122705,BC038583,AK308698,BC039488,BC051379,BI826484,DA357118,BX103404,N68280,NM_001172667 NP_057574,NP_001116118,AAY14968,EAW71321,EAW71322,EAW71323,AAF36154,BAG53678,AAH38583,AAH39488,AAH51379,Q8IXR5,NP_001166138 Hs.107922 hypothetical protein LOC51252 protein-coding 1603353 FAM179A family with sequence similarity 179, member A 20125088,16344560 165186 NM_199280,AC105398,CH471053,AK125744,AK296977,BI768759,BQ772038,DA213268,DA460119,AK125239 NP_954974,EAX00519,BAC86270,BAG59519,Q6ZUX3,EAX00520,BAC86095 Hs.525977 hypothetical protein LOC165186 protein-coding 1321397 FAM179B family with sequence similarity 179, member B 1580863 16335990,15489334,14702039,12477932,12168954,9455477 23116 AK311034,NM_015091,AL049870,AL121809,CH471078,AB007883,AK096934,AK295185,BC057255,BC065234,BX648723,CR749557 NP_055906,EAW65790,EAW65791,BAA24853,BAG58189,AAH57255,AAH65234,CAH18354,Q6P183,Q9Y4F4 Hs.371078 DKFZp686D12126|KIAA0423 OTTHUMP00000178915|hypothetical protein LOC23116 protein-coding 1604688 FAM180A family with sequence similarity 180, member A 12975309,12690205,12477932,10737800 389558 BC137311,BC137312,BI040280,BU617005,AY358803,NM_205855,AC091736,CH236950,AK290250,AK297754,AK310180,AL597791,CS498401 AAQ89163,AAI37312,AAI37313,Q6UWF9,NP_995327,EAL24057,BAF82939,BAG60104,CAM82730 Hs.55200 UNQ1940 HWKM1940|OTTHUMP00000208201|OTTHUMP00000208539|hypothetical protein LOC389558 protein-coding 2298817 FAM180B family with sequence similarity 180, member B 12477932 399888 NM_001164379,AC104942,BC065704,CB999847 NP_001157851,AAH65704,Q6P0A1 Hs.502529 hypothetical protein LOC399888 protein-coding 1319141 FAM181A family with sequence similarity 181, member A 18029348,15489334,14702039,12477932 90050 NM_138344,AL132642,CH471061,AK093387,AY255795,BC009073 NP_612353,EAW81537,EAW81538,BAC04151,AAP15252,AAH09073,Q8N9Y4 Hs.525550 C14orf152 hypothetical protein LOC90050 protein-coding 1605261 FAM181B family with sequence similarity 181, member B 14702039,12477932 220382 NM_175885,AP002796,CH471076,AK095054,BC039262,BC150621,BE857184,BE858471 NP_787081,EAW75073,AAI50622,A6NEQ2 Hs.448218 MGC33846 hypothetical protein LOC220382 protein-coding 1347876 FAM182A family with sequence similarity 182, member A 14702039,12477932,11780052 284800 NR_026713,AL391119,AL450124,AK095693,BC131537 CAI17300,CAI17937,BAC04609,Q5T1J6 Hs.662381 C20orf91|FLJ38374|bB329D4.1 miscrna 2299181 FAM182B family with sequence similarity 182, member B 15489334,12477932,11780052 728882 NR_026714,NR_027061,AL390198,AL096727,BC042812 CAI17326,Q5T319 Hs.516952 DKFZp434B104|MGC51338 miscrna 2299984 FAM183A family with sequence similarity 183, member A 16710414,11181995 440585 NM_001101376,AL139138,CH471059,AI192630,AI375550 NP_001094846,CAX15145,CAX15146,CAX15147,EAX07119,A6NL82 Hs.657614 OTTHUMP00000204115|OTTHUMP00000204116|OTTHUMP00000204117|OTTHUMP00000204118|hCG23177 protein-coding 2299983 FAM183B family with sequence similarity 183, member B 16344560,12477932 340286 NR_028347,AC011309,CH236951,AI217903,AK124132,BC045803,BG772121,DB047796 EAL23991,BAC85784 Hs.144075 pseudo 1322675 FAM184A family with sequence similarity 184, member A 16344560,15489334,14702039,12477932,11230166,20379614 79632 NM_001100411,NM_024581,AL137009,AL365275,CH471051,AI457286,AJ420503,AJ420563,AK024004,AK091682,AK127744,AK308316,AL136767,AY131226,BC009055,BX538186,BX640728,DA717412,DB237883,BC060769,AL132874 NP_001093881,NP_078857,CAI20344,CAI40383,CAI40384,EAW48188,EAW48189,EAW48190,BAB14769,BAC03719,BAC87110,CAB66701,AAN07912,AAH09055,AAH60769,CAD98058,CAE45844,Q5JSQ4,Q6N028,Q6P9G8,Q6ZS45,Q7Z323,Q7Z5E6,Q8NB25,ACE87824,ACT64398,CAX30830 Hs.443789 C6orf60|FLJ13942 hypothetical protein LOC79632 protein-coding 2301273 FAM184B family with sequence similarity 184, member B 14702039,10574462 27146 AC005768,AC006160,AB033102,AK027311,AK308144,NM_015688,CH471069 BAA86590,Q9ULE4,NP_056503,EAW92783 Hs.726180 KIAA1276 hypothetical protein LOC27146 protein-coding 1601709 FAM185A family with sequence similarity 185, member A 16344560,14702039,12477932 222234 NM_001145268,NR_026879,NM_001145269,AC006477,AC105052,CH471070,AK054745,AK297455,AK298753,BC029175,CR605086,DB192367,DR006842 NP_001138740,NP_001138741,EAW83297,BAG59879,BAG60895,AAH29175,Q8N0U4,ABM84285,ABM87677 Hs.202543 MGC35361 hypothetical protein LOC222234 protein-coding 2301116 FAM185B family with sequence similarity 185, member B pseudogene 9847074 641808 NG_009751,AC007000 pseudo 2301117 FAM186A family with sequence similarity 186, member A 16541075,12477932 121006 NM_001145475,AC090058,AC140061,AL833333,BC054024,BC140703 NP_001138947,AAI40704,A6NE01 Hs.133187 Protein FAM186A|family with sequence similarity 186, member A protein-coding 1604773 FAM186B family with sequence similarity 186, member B 11256614,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863 84070 NM_032130,NR_027450,AC020612,CH471111,AI829695,AK093242,AK302702,AL136748,AL713673,BC035621,DB087952,DC402111 NP_115506,EAW58082,EAW58083,BAG52677,BAG63927,CAB66682,CAD28479,AAH35621,Q8IYM0 Hs.524406 C12orf25|DKFZp434J0113|DKFZp434N2350 hypothetical protein LOC84070|protein FAM186B protein-coding 1603571 FAM187B family with sequence similarity 187, member B 12477932 148109 NM_152481,AC002128,AK098526,BC039080,BC117457,BC117459,HC007342 ADR82985,NP_689694,BAC05322,AAI17458,AAI17460,Q17R55,CBH19476 Hs.128069 FLJ25660|TMEM162 family with sequence similarity 187, member B|transmembrane protein 162 protein-coding 1320032 FAM188A family with sequence similarity 188, member A C10ORF97 is a member of the caspase-associated recruitment domain (CARD) family of proteins that play a role in apoptosis (Liu et al., 2002 [PubMed 12054670]).[supplied by OMIM] 737633 17652099,14702039,12477932,12054670,17207965,16169070 737633 80013 NM_024948,AL590439,CH471072,AB014761,AF063600,AF176916,AK023459,AL833873,BC020605,BC061585,BC067799,CR457315,CR598815,CR604819,CR606283,CR620518 NP_079224,CAI13817,CAI13818,CAI13819,CAI13820,EAW86233,EAW86234,BAB87802,AAG43159,AAQ13660,BAB14582,CAD38730,AAH20605,AAH61585,AAH67799,CAG33596,Q9H8M7,ADQ32077 Hs.158870 C10orf97|CARP|DERP5|FLJ13397|MST126|MSTP126|RP11-394I23.1|my042 CARD-containing protein|caspase recruitment domain containing pro-apoptotic protein|chromosome 10 open reading frame 97 protein-coding 1604570 FAM188B family with sequence similarity 188, member B 16344560,14702039,12477932,19913121,20628086 84182 NM_032222,AC006022,CH471073,AF538962,AK026027,AK090826,AK128558,BC043210,BC098569,DA868176 NP_115598,EAW93970,AAQ10898,BAB15327,AAH98569,Q4G0A6 Hs.660192 C7orf67|FLJ22374|FLJ51453|MGC44277 OTTHUMP00000202456|hypothetical protein LOC84182 protein-coding 2306135 FAM188B2 family with sequence similarity 188, member B2 16641997,20717163,20379614 646951 XM_929916,XM_941099,XM_001717355,AC016142,AC020636,AC108674,HM626139 XP_935009,XP_946192,XP_001717407,A8MYZ0 Hs.669160 C3orf76|CLRN1 Putative UPF0526 protein B|UPF0526 protein B-like|family with sequence similarity 188, member B2 protein-coding 2311472 FAM189A1 family with sequence similarity 189, member A1 16344560,12477932,9628581,19913121,20628086,20379614 23359 NM_015307,AC024474,AC061965,AC090763,AC102941,AC107980,AB011146,AI364989,AK295622,BC127817,DA188047,DA327746 NP_056122,BAA25500,BAG58501,O60320 Hs.383564 FLJ61121|KIAA0574|TMEM228 hypothetical protein LOC23359|transmembrane protein 228 protein-coding 1316770 FAM189A2 family with sequence similarity 189, member A2 737633 16344560,16189514,15164053,14702039,12477932,7951235 737633 9413 NM_001127608,NM_004816,AL355140,CH471089,AK056152,AK126127,BC021685,BC113683,BC113685,BX641153,DA824091,L27479 NP_001121080,NP_004807,CAI15445,CAI15446,CAI15447,EAW62482,EAW62483,EAW62484,EAW62485,BAB71105,BAC86453,AAH21685,AAI13684,AAI13686,CAE46067,AAA61301,Q15884,Q6MZG7,Q8WU02,ADR82993 Hs.118003 C9orf61|MGC142243|MGC142245|RP11-548B3.1|X123 Friedreich ataxia region gene X123|chromosome 9 open reading frame 61 protein-coding 1314529 FAM189B family with sequence similarity 189, member B 15064722,14702039,12477932,9331372,9110174,8619474 10712 NM_198264,NM_006589,AF023268,AL713999,CH471121,AF070550,AK093335,AL353941,BC006297,BC006493,BC007444,BC008854,BC010471,BC017262,BC033707,BC040136,CR607925 NP_937995,NP_006580,AAC51822,CAI95091,CAI95092,CAI95093,CAI95094,EAW53094,EAW53095,EAW53096,EAW53097,EAW53098,EAW53099,AAC28638,AAH06297,AAH06493,AAH07444,AAH08854,AAH10471,AAH17262,AAH40136,P81408,Q96AD8,Q96H71,Q9BRF4,Q9Y6J7,ABZ92294 Hs.348308 C1orf2|COTE1 OTTHUMP00000223242|hypothetical protein LOC10712 protein-coding 1343449 FAM18A family with sequence similarity 18, member A 15146197,12477932 780776 NM_001079512,AC074136,AK124106,AK294418,AL833564,BC050569,BC146882,BC146886,BC171816,BC171819,CN301583 NP_001072980,BAG57667,AAI46883,AAI46887,A6NH52 Hs.371576 YDR084C hypothetical protein LOC780776 protein-coding 1314909 FAM18B family with sequence similarity 18, member B 1580863 15489334,12477932,10810093 51030 NM_016078,AC107982,AF151906,AF223467,AK128119,AK290813,BC008430,BX537929,BX648167,CR594215,CR600955,CR603456,CR611241,CR611637,CR618827 NP_057162,AAD34143,AAF64142,BAF83502,AAH08430,CAD97906,Q9NYZ1 Hs.87295 CGI-148|FAM18B|FLJ46240|NPD008|YDR084C family with sequence similarity 18, member B|hypothetical protein LOC51030 protein-coding 1602059 FAM18B2 family with sequence similarity 18, member B2 12477932,20379614 201158 NM_145301,NM_001135036,AC005517,AC005838,AK303475,AK310363,BC011952,BQ448398,BU754306,DC393880 NP_660344,NP_001128508,BAG64512,AAH11952,Q96ET8 Hs.726523 MGC8763 OTTHUMP00000065089|hypothetical protein LOC201158 protein-coding 4140303 FAM18B3P family with sequence similarity 18, member B3, pseudogene 100129124 AC127511,NG_022121 pseudo 4140027 FAM18B4P family with sequence similarity 18, member B4, pseudogene 100421473 AC005033,NG_023571 pseudo 1602258 FAM190A family with sequence similarity 190, member A 20607790,16344560,14702039,12477932,11214970,20379614 401145 NM_001145065,NM_207491,AC004054,AC019188,AC074124,AC079301,AC093729,AC093781,AC093793,AC096897,AC097524,AC098593,AC108038,AC110774,AC110796,AC114787,CH471057,AB051467,AK097436,AK310825,BC021681,BC051694,BC073917,DB027029 NP_001138537,NP_997374,AAY41009,EAX06039,EAX06040,BAB21771,AAH51694,Q9C0I3 Hs.654735 KIAA1680|MGC48628 KIAA1680 protein|OTTHUMP00000219397|OTTHUMP00000219520 protein-coding 1312172 FAM190B family with sequence similarity 190, member B 737633 14702039,12477932,10574461,8619474,16169070,16385451,20379614 737633 54462 NM_018999,AC074321,AL356115,CH471142,AB032954,AF241785,AK024324,AK098675,AK294321,AK298966,BC020910,BC030528,BU599757,BX640691,U90912 NP_061872,CAI40902,EAW80349,EAW80350,EAW80351,EAW80352,BAA86442,AAG44473,BAB14884,BAG57595,BAG61061,AAH30528,CAE45815,Q6N055,Q9H7U1 Hs.461988 FLJ14262|FLJ25809|Gcap14|KIAA1128|bA486O22.1 granule cell antiserum positive 14 protein-coding 1605044 FAM192A family with sequence similarity 192, member A 16381901,16344560,15489336,15489334,14702039,12477932,11256614,11230166,11076863 80011 NM_024946,AC009090,CH471092,AF212249,AF271785,AF356585,AK023291,AK025452,AL834421,BC020536,BC063409,BC071952,BI545617,CA308353,CR593181,CR597243,CR597609,CR602966,CR603729,CR616426,CR625120,DB101263 NP_079222,EAW82904,EAW82905,EAW82906,EAW82907,EAW82908,AAK14932,AAG44796,AAK43697,BAB14512,BAB15136,CAD39082,AAH20536,AAH63409,AAH71952,Q6P4H7,Q9GZU8,CAL37989,CAL38239,ABM82615,ABM85909 Hs.396740 C16orf94|CDA018|CDA10|FLJ21799|MGC74898|NIP30 NEFA-interacting nuclear protein NIP30 protein-coding 2312700 FAM192B family with sequence similarity 192, member B pseudogene 16201836 152667 NG_007351,AC099339,DQ120679 ABB92457,Q2VIL1 rcNIP30 pseudo 3497372 FAM196B family with sequence similarity 196, member B 14702039,15372022,20379614 100131897 AC008449,AC008648,AK055998,NM_001129891 A6NMK8,NP_001123363 Hs.721917 C5orf57 Uncharacterized protein LOC100131897|hypothetical protein LOC100131897 protein-coding 2801165 FAM197Y1 family with sequence similarity 197, Y-linked, member 1 100289265 AADB02037581,AC006156,XM_002344201,XM_002348244 XP_002344242,XP_002348285 family with sequence similarity 197, Y-linked, member 1 protein-coding 2793755 FAM197Y10 family with sequence similarity 197, Y-linked, member 10 100288465 AC010141,XM_002343869 XP_002343910 family with sequence similarity 197, Y-linked, member 10 protein-coding 2798785 FAM197Y3 family with sequence similarity 197, Y-linked, member 3 100132506 AC006156,XM_001716449 XP_001716501 Hs.559065 family with sequence similarity 197, Y-linked, member 3 protein-coding 2801509 FAM197Y4 family with sequence similarity 197, Y-linked, member 4 100289188 AC006156,XM_002344200 XP_002344241 family with sequence similarity 197, Y-linked, member 4 protein-coding 2801503 FAM197Y5 family with sequence similarity 197, Y-linked, member 5 100289150 AC006156,XM_002344199 XP_002344240 Hs.638604 family with sequence similarity 197, Y-linked, member 5 protein-coding 2795366 FAM197Y6 family with sequence similarity 197, Y-linked, member 6 100287859 AC006158,XM_002344442 XP_002344483 family with sequence similarity 197, Y-linked, member 6 protein-coding 2795360 FAM197Y7 family with sequence similarity 197, Y-linked, member 7 100287826 XM_002344441,AC006158 XP_002344482 family with sequence similarity 197, Y-linked, member 7 protein-coding 2795936 FAM197Y8 family with sequence similarity 197, Y-linked, member 8 100287798 AC006158,XM_002344440 XP_002344481 family with sequence similarity 197, Y-linked, member 8 protein-coding 2797679 FAM197Y9 family with sequence similarity 197, Y-linked, member 9 100132932 AC006335,XM_001716169 XP_001716221 family with sequence similarity 197, Y-linked, member 9 protein-coding 2881558 FAM199YP family with sequence similarity 199, Y-linked, pseudogene 12815422,9847074 360029 AC012068,NG_002952 FAM199Y pseudo 1347131 FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq] 11256614,16381901,15489336,15489334,15028294,12477932,11230166,11076863,20664687 407738 NM_213609,AC092416,AC104167,AC104443,AC107626,AC126123,AC138390,AC139766,CH471055,AK289668,AK290446,AL713702,AY325114,BC025746,BX460561 NP_998774,EAW65460,BAF82357,BAF83135,CAD28501,AAP92406,AAH25746,Q7Z5A9,CAL38734 Hs.655061 TAFA-1|TAFA1 OTTHUMP00000213370|OTTHUMP00000213371|family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 protein-coding 1345895 FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq] 19240061,15489334,15028294,12477932,20379614 338811 NM_178539,AC020647,AC078789,AC078872,AC130414,AC137053,CH471054,AK123580,AL834160,AW161831,AY325115,BC028403,BC040286,BC050347,CR749367 NP_848634,EAW97100,EAW97101,EAW97102,BAG53916,CAD38865,AAP92407,AAH28403,AAH40286,CAH18220,Q8N3H0 Hs.269745 DKFZp761E1217|DKFZp781P0552|MGC42403|TAFA-2|TAFA2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 protein-coding 1354085 FAM19A3 family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq] 16710414,15028294,12477932,12107411 284467 BQ638101,NM_001004440,NM_182759,AL603832,CH471122,AY325116,AY325119,BC112268,BC117479,BC143949,BC144042,BC144043 Q7Z5A8,NP_001004440,NP_877436,CAI14063,CAI14064,EAW56548,EAW56549,AAP92408,AAP92411,AAI12269,AAI17480,AAI44044,ADR83487 Hs.439116 MGC138473|RP11-426L16.6|TAFA-3|TAFA3 family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 protein-coding 1345564 FAM19A4 family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq] 14702039,12477932,19851296,20198315,20379614,15489334,15028294 151647 NM_182522,NM_001005527,AC096922,AC104166,AC109587,CH471055,AK057890,AY325117,BC031566 NP_872328,NP_001005527,EAW65463,EAW65464,BAB71606,AAP92409,AAH31566,Q96LR4 Hs.187873 FLJ25161|TAFA-4|TAFA4 family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 protein-coding 1342880 FAM19A5 family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq] 15489334,15028294,12477932,10591208,9110174,8889548,8619474,12975309,20379614 25817 NM_001082967,NM_015381,AL096843,AL096853,AL954745,BX927063,CH471138,CR391954,CR450365,CR456636,Z83837,Z84468,AF131851,AK123443,AK125256,AY325118,AY358847,BC039396,BU739734,DB481230 NP_001076436,NP_056196,CAO03624,EAW73462,EAW73463,CAI43188,CAQ09100,CAQ09101,CAQ09102,CAO03302,CAO03303,AAD20061,BAG53905,BAG54175,AAP92410,AAQ89206,AAH39396,Q7Z5A7 Hs.436854 QLLK5208|TAFA-5|TAFA5|UNQ5208 OTTHUMP00000197029|TAFA protein 5|family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 protein-coding 3130454 FAM200B family with sequence similarity 200, member B 12477932,14702039,15815621,16344560 285550 AC114744,AK124651,BC017971,BC035074,BC048993,BQ004196,DA408954,NM_001145191 NP_001138663,P0CF97 Hs.399980,Hs.619367 OTTHUMP00000217967|putative protein FAM200B protein-coding 4106791 FAM201B family with sequence similarity 201, member B 12477932,20379614 339742 XM_003120760,AC097532,BC045732,XM_929883 XP_003120808,AAH45732,Q86VD6,XP_934976 Hs.98178 family with sequence similarity 201, member B protein-coding 4106454 FAM201C family with sequence similarity 201, member C 100132230 AADB02026516,AC134878,AC140113 pseudo 4106455 FAM202A family with sequence similarity 202, member A 100128726 AC099336,AK130276,XM_003118500,XM_003119763,XM_003120845 XP_003118548,XP_003119811,XP_003120893,BAC85317,Q6ZP08 Hs.727991 family with sequence similarity 202, member A protein-coding 4106183 FAM202B family with sequence similarity 202, member B 100286899 AADB02037620,ABBA01015517,AC006991 pseudo 4105864 FAM202C family with sequence similarity 202, member C 100287695 AC009947 pseudo 1314939 FAM20A family with sequence similarity 20, member A 16344560,15676076,14702039,12975309,12477932 54757 NR_027751,NM_017565,AC079210,CH471099,AF447872,AK056789,AK298071,AL133105,AY358197,BC036222,BC136686,BC136689,CB530015,CR597331,DB057818,N64017 NP_060035,EAW89066,AAQ04647,BAB71285,BAH12719,CAB61412,AAQ88564,AAH36222,AAI36687,AAI36690,Q71MG5,Q8IYA5,Q96MK3 Hs.268874 DKFZp434F2322|FP2747 family with sequence similarity 20, member A protein-coding 1322474 FAM20B family with sequence similarity 20, member B 737633 19473117,16428749,15676076,15489334,12477932,11483207,10760811,9455484,9455477,20237496 737633 9917 AB480690,AK289989,BC046441,BC051794,CA844342,NM_014864,AL139132,CH471067,AB007944 BAH79819,BAF82678,AAH46441,AAH51794,O75063,NP_055679,CAH70923,CAH70924,EAW91034,EAW91035,EAW91036,BAA32320 Hs.5737 gxk1 glycosaminoglycan xylosylkinase|xylose kinase protein-coding 1323719 FAM20C family with sequence similarity 20, member C 14702039,12690205,12477932,19250384,17924334,17369251,15676076,15489334,20643727 56975 AC093627,AC145676,AC187652,CH236966,CH471144,AF533706,AK054704,AL390137,AL390147,NM_020223,BC009531,BC040074,BC087853 NP_064608,EAL23705,EAW87149,EAW87150,EAW87151,EAW87152,EAW87153,EAW87154,EAW87155,EAW87156,EAW87157,AAQ09019,CAB99089,AAH40074,AAH87853,Q8IXL6 Hs.134742 DKFZp547C074|DMP4|RNS DMP-4|OTTHUMP00000217831|dentin matrix protein 4 protein-coding 1603151 FAM21A family with sequence similarity 21, member A 14702039,12477932 387680 NM_001005751,AL442003,AL450382,AK001686,AK055424,AK295129,AK304116,AL080183,BC064639,BC065500,BC075815,BC082258,BC144479 NP_001005751,CAH72493,CAH72494,CAM17004,CAI15869,CAM22317,BAA91836,BAG58154,BAG65017,CAB45765,AAH65500,AAH75815,AAH82258,AAI44480,Q641Q2,Q9NVB8,Q9Y4N4,Q6P0Q7 Hs.645272 bA56A21.1 OTTHUMP00000019607|WASH complex subunit FAM21A protein-coding 1352446 FAM21B family with sequence similarity 21, member B 16344560,15146197,14702039,8889549,8889548 55747 NM_018232,AL954360,AA147749,AK125147,BE744488,BQ060891,BU690083,CN314884,CR994976,CX762870,DA313442,DA402580,DA466642,DC403380,CR623639 NP_060702,CAI17187,CAI17188,Q5SNT6,Q5SNT8 Hs.365286,Hs.449662 FAM21A|bA98I6.1 OTTHUMP00000019527|WASH complex subunit FAM21B|family with sequence similarity 21, member A protein-coding 1349964 FAM21C family with sequence similarity 21, member C 17081983,16964243,16713569,15489334,15302935,15164054,15144186,14702039,12477932,9628581,15146197,16344560,18550675,19922874,19922875,20139978 253725 NM_015262,AC012044,AL645998,AL731535,AB011164,AI356516,AK001545,AK291430,AK293929,AK298385,AK303048,AL050279,BC006456,BC039561,BC053887,BC150611,AL046783,BM126842,BQ229875,CN314880,DB219301,DC317753,DC377099,NM_001169106,NM_001169107 NP_056077,CAI16355,CAI16356,CAI15257,CAI15258,BAA25518,BAG50936,BAF84119,BAG57309,BAG60621,BAG64168,CAB43380,AAH06456,AAI50612,Q9Y4E1,NP_001162577,NP_001162578 Hs.365286,Hs.449662,Hs.645272 FAM21A|KIAA0592|VPEF OTTHUMP00000019509|WASH complex subunit FAM21C|vaccinia virus penetration factor protein-coding 1346618 FAM21D family with sequence similarity 21, member D 653450 NG_012764,AL672187 CAI16093,Q5SRD0 bA592B15.4 pseudo 1602054 FAM22A family with sequence similarity 22, member A 12477932 728118 NM_001099338,AL157893,BC033231,BC092519,EG328792 NP_001092808,CAH72466,Q8IVF1 Hs.710565 OTTHUMP00000020023|hypothetical protein LOC728118 protein-coding 1346368 FAM22B family with sequence similarity 22, member B 729262 NG_012780,AL132656 CAQ08563,A6NNL0 bA119F19.1 pseudo 1343965 FAM22C family with sequence similarity 22, member C 727807 XM_001125950,AL603703 XP_001125950,CAI16680,Q5SWS2 protein-coding 1344165 FAM22D family with sequence similarity 22, member D 15164054 728130 NM_001009610,AL645612,AB095940 NP_001009610,CAH70666,CAH70667,BAC23116,Q5VT03 Hs.701044,Hs.710565 KIAA2020 hypothetical protein LOC728130 protein-coding 1353494 FAM22E family with sequence similarity 22, member E 12477932 283008 NG_012781,AL135925 CAC78758,B1AL46 pseudo 1342942 FAM22F family with sequence similarity 22, member F 12477932 54754 NM_017561,AL691447,AL133071,BC130390,BC143798 NP_060031,CAI13277,CAI13278,CAB61394,AAI30391,AAI43799,A1L443,ADR83260 Hs.648183 DKFZp434I1117|MGC163262 OTTHUMP00000021689|hypothetical protein LOC54754 protein-coding 1351697 FAM22G family with sequence similarity 22, member G 15164053 441457 NM_001170741,NM_001045477,AL158827 NP_001164212,Q5VZR2,NP_001038942,CAH72567,CAH72568 Hs.652383 OTTHUMP00000021736|family with sequence similarity 22, pseudogene|hypothetical protein LOC441457 protein-coding 1349731 FAM23A family with sequence similarity 23, member A 15164054,12477932,14702039,20139978 653567 NM_001098844,AL139238,BC157856,AK056775 NP_001092314,CAH70871,AAI57857,Q5W0B7 Hs.564139,Hs.450483 bA16O1.2 hypothetical protein LOC653567 protein-coding 1606400 FAM23B family with sequence similarity 23, member B 15164054,11181995,20139978 100289299 AL928729,CH471072,AK300456,XM_002342974 CAH70732,EAW86206,BAG62176,Q5VSJ3,XP_002343015 Hs.450483 FLJ59050|bA162I21.2 OTTHUMP00000019244|family with sequence similarity 23, member B|hypothetical protein LOC100289299 protein-coding 1342610 FAM24A family with sequence similarity 24, member A 118670 NM_001029888,AC073585,CH471066,HC044851 NP_001025059,EAW49299,A6NFZ4,CBH30755 Hs.369829 family with sequence similarity 24, member A protein-coding 1352359 FAM24B family with sequence similarity 24, member B 737633 15489334,12975309,12477932,20379614 737633 196792 NM_152644,AC073585,CH471066,AL832386,AV762334,BC031343,BG490871,CB410280,AL832795 NP_689857,EAW49301,AAH31343,Q8N5W8,CAI46166 Hs.114648 DKFZp667I0323|MGC45962 hypothetical protein LOC196792 protein-coding 1347345 FAM25A family with sequence similarity 25, member A 15164054,12477932,11181995 643161 NM_001146157,AL136982,CH471142,BC171878,BC171915,BQ013919 NP_001139629,CAI17119,EAW80305,EAW80306,AAI71878,AAI71915,Q5VTM1 Hs.511787 bA96C23.5 OTTHUMP00000020016|hypothetical protein LOC643161 protein-coding 1343588 FAM25B family with sequence similarity 25, member B 15164054 100132929 NM_001137556,AL391137 NP_001131028,CAI12205,Q5VTM1 Hs.645212 KIAA0187|bA144G6.8 OTTHUMP00000019524|hypothetical protein LOC100132929 protein-coding 1352936 FAM25C family with sequence similarity 25, member C 15164054,12477932 644054 NM_001137548,AL603966,BC127791,BC146955,BC146968,BC146972,BC146989,BC146990,BC146991,BC147022,BC147026,BC171871 NP_001131020,CAI12334,AAI46956,AAI46969,AAI46973,AAI46990,AAI46991,AAI46992,AAI47023,AAI47027,AAI71871,Q5VTM1 Hs.645212,Hs.723078 KIAA0187|bA164N7.4 OTTHUMP00000019544|hypothetical protein LOC644054 protein-coding 1348711 FAM25D family with sequence similarity 25, member D 15164054 728955 XM_001128899,XM_001719313,AL672187 XP_001128899,XP_001719365,A8MYX2 bA592B15.5 family with sequence similarity 25, member D protein-coding 1346045 FAM25E family with sequence similarity 25, member E 414204,643479 AC012044,XM_001718256,XM_002347127,XM_926802 XP_001718308,XP_002347168,XP_931895 Hs.522900 AC012044.5 family with sequence similarity 25, member E protein-coding 1349843 FAM25G family with sequence similarity 25, member G 15164054 100133093 NM_001137549,AL591684 NP_001131021,CAH72202,Q5VTM1 Hs.723078 KIAA0187|bA301J7.4 OTTHUMP00000019530|hypothetical protein LOC100133093 protein-coding 1352546 FAM25HP family with sequence similarity 25, member H pseudogene 414207 1314099 FAM26D family with sequence similarity 26, member D 15489334,14702039,14574404,12975309,12477932 221301 NM_153036,AL121953,CH471051,AK056801,AY358252,BC057769,HC044651,AK300309 NP_694581,CAI21552,EAW48223,EAW48224,BAB71288,AAQ88619,AAH57769,Q5JW98,CBH30655,BAG62062,CAQ06529,CAQ06530,CAQ06531 Hs.350750 C6orf78|FLJ32239 OTTHUMP00000198749|OTTHUMP00000198750|chromosome 6 open reading frame 78|hypothetical protein LOC221301 protein-coding 1321291 FAM26E family with sequence similarity 26, member E 15489334,14702039,14574404,12477932 254228 NM_153711,AL121953,CH471051,AK023730,AK094140,AK315572,BC032556,BM478960,BQ001005 NP_714922,CAI21549,EAW48226,BAG52825,BAG37946,Q8N5C1 Hs.660142 C6orf188|MGC45451|dJ493F7.3 chromosome 6 open reading frame 188|hypothetical protein LOC254228 protein-coding 1605771 FAM26F family with sequence similarity 26, member F 14574404,12477932 441168 CH471051,Z84488,AF086130,BC146842,NM_001010919 EAW48228,CAI23411,CAI23412,CAI23413,AAI46843,Q5R3K2,Q5R3K3,Q5R3K4,NP_001010919 Hs.381220 C6orf187|RP1-93H18.5|dJ93H18.5 OTTHUMP00000017061|OTTHUMP00000017062|hypothetical protein LOC441168 protein-coding 1604129 FAM27A family with sequence similarity 27, member A 15164053,12477932,8889548 548321 NR_024060,AL953889,AK131029,BC002886 CAI16780,Q5VT28 Hs.651534,Hs.710801 FAM27A1|MGC11241|bA7G23.5 miscrna 1625807 FAM27B family with sequence similarity 27, member B 15164053 100133121 NR_027422,AL627230 CAH70358,Q5VT28 FAM27A2|bA12A20.3 miscrna 1625809 FAM27C family with sequence similarity 27, member C 15164053,12477932 100132948 NR_027421,AL391987,BC073976 CAH73097,Q5VT28 Hs.645763 FAM27A3|bA374M1.5 miscrna 1625832 FAM27D1 family with sequence similarity 27, member D1 724094 NM_001098809,AL162731,AL773537 NP_001092279,CAI13103,CAH71857,Q5T7N8,Q5VSL6 protein-coding 2299011 FAM27E3 family with sequence similarity 27, member E3 15489334,12477932,16189514,18482256 100131997 XM_001720463,AL627230,BC032035,BC044751,BC119675 XP_001720515,AAH32035,AAI19676,Q08E93 Hs.711114 MGC149559|MGC42630 family with sequence similarity 27, member E3 protein-coding 1602282 FAM27L family with sequence similarity 27-like 15489334,12477932 284123 NR_028336,AC138761,CH471221,BC031617 EAW49114,AAH31617,Q8N5T8 Hs.348578 MGC35151 miscrna 1347792 FAM30A family with sequence similarity 30, member A 12477932,11042152 29064 AF161538,BC016766,BC030286,AF150199 AAF29025,AAH16766,Q05C13,Q05DB7,Q9NZY2,AAH30286 Hs.649259 C14orf110|HSPC053|c14orf110 chromosome 14 open reading frame 110 protein-coding 1316761 FAM32A family with sequence similarity 32, member A 16169070,11256614,16381901,15489336,15489334,12477932,11230166,11076863,10810093,19913121,20628086 26017 NM_014077,AC020911,CH471106,AF151902,AK312058,AL050157,BC000639,BC004447,BC017286,CR594783,CR594996,CR597639,CR599994,CR601203,CR603364,CR603593,CR605955,CR606857,CR607046,CR608983,CR614913,CR621715,CR623049,CR625672,CR625808 NP_054796,EAW84536,EAW84537,EAW84538,AAD34139,BAG34994,CAB43298,AAH00639,AAH04447,AAH17286,Q9Y421,CAL38426,CAL38545 Hs.631614 hypothetical protein LOC26017 protein-coding 1343080 FAM32B family with sequence similarity 32, member B (pseudogene) 399656 NG_008703,AC005399 pseudo 3231976 FAM32C family with sequence similarity 32, member C (pseudogene) 645646 AL357037,NG_016627 pseudo 2301481 FAM32D family with sequence similarity 32, member D (pseudogene) 100190955 NG_008713,AC022655 pseudo 2301480 FAM32E family with sequence similarity 32, member E (pseudogene) 100190956 NG_008714,AC005868 pseudo 1354134 FAM35A family with sequence similarity 35, member A 15489334,15164054,14702039,12477932,9110174,8619474 54537 AL136982,AL645992,AF131775,AK022978,AK025471,AK025606,BC051863,NM_019054 NP_061927,CAH70756,CAH70757,AAD20041,BAB14342,AAH51863,Q5VSZ0,Q86V20 Hs.500419 FAM35A1|MGC5560|bA163M19.1 OTTHUMP00000020021|OTTHUMP00000020022|hypothetical protein LOC54537 protein-coding 1342608 FAM35A2 family with sequence similarity 35, member A2 (pseudogene) 100128781 NG_008816,AL136501 FAM35AP pseudo 1350093 FAM35B family with sequence similarity 35, member B 7566098 414241 NR_027632,AL356056,AA305743,AW955523 CAH73269,A6NDK8 Hs.594331 FLJ59018|bA38L15.1 pseudo 2292064 FAM35B2 family with sequence similarity 35, member B2 439965 NR_027634,BX649215,AK294120 BAG57453,A6NDK8 Hs.283521 FLJ59018 pseudo 1319259 FAM36A family with sequence similarity 36, member A 737633 14702039,12477932,8889548,16710414,15489334,20877624 737633 116228 NM_198076,BX323046,CH471148,AF086182,AK000866,AK125259,AK130498,AK300760,AL122072,BC018519,BC062419,BC064399,BC095486,BG708903,BU732247,CR592197 NP_932342,CAI11052,CAI11053,EAW77120,EAW77121,EAW77122,EAW77123,EAW77124,BAG50833,BAG54176,BAG62426,AAH18519,AAH62419,AAH95486,Q5RI15 Hs.411490 FLJ43269 hypothetical protein LOC116228 protein-coding 1346278 FAM36B family with sequence similarity 36, member B 414247 1318815 FAM38A family with sequence similarity 38, member A 737633,1580863 20016066,18316326,18311491,17081983,16854388,16565220,14702039,12477932,10737800,9039502,20813920 737633 9780 NM_001142864,AC138028,CH471184,CQ834400,AA825468,AB161230,AK092007,AL582912,BC008073,BC016983,BC141877,BC150271,BE066337,CR605984,CR608234,D87071,AC092384 Q92508,Q96HU3,BAG10304,NP_001136336,EAW66773,CAH05415,BAF03565,AAH08073,AAI50272,BAA13240 Hs.513807,Hs.592074 KIAA0233|Mib|PIEZO1 OTTHUMP00000210574|family with sequence similarity 38, member A|membrane protein induced by beta-amyloid treatment|protein PIEZO1 protein-coding 1345467 FAM38B family with sequence similarity 38, member B 1580863 20813920,14702039,15146197,16344560 63895 NM_022068,AP001180,AK026797,AK027056,AK092226,AK095053,AK127627,AK302764,AP005117,AP005120,AP005404,AP005793,BF509086,BI829775,CN287196,CR747105,DB319508,DV080248,DV080444,DV080488,EG327967 NP_071351,BAB15556,BAB15641,Q9H5I5,AAI48380,BAC03832,BAC87063,BAH13798,Q6ZS91,Q8N787,Q8NAR6 Hs.436902,Hs.652094 C18orf30|C18orf58|FAM38B2|FLJ23144|FLJ23403|FLJ25916|FLJ34907|FLJ37734|FLJ45725|HsT748|HsT771|PIEZO2 OTTHUMP00000162403|family with sequence similarity 38, member B|family with sequence similarity 38, member B2 protein-coding 1352346 FAM38B2 family with sequence similarity 38, member B2 14702039 284221 XM_001130754,AK095053,AK127627 XP_001130754,BAC87063,Q6ZS91,Q8N787 Hs.651849 C18orf30|HsT771 protein-coding 1349782 FAM3A family with sequence similarity 3, member A 18212107,15772651,15489334,12477932,12160727,8733135,8281148,8248200,17207965 60343 CX867071,NG_016401,NM_001171132,NM_001171133,NM_001171134,NR_033237,NM_021806,BX664739,CH471172,L44140,X55448,AK024601,AK057945,AK124890,AK294116,AK314682,BC002934,BC008912,CR592995,CR596755,CR599837,CR601813,CR603934,CR607874,CR610052,CR614091,CR614821,CR622301,CR623687,CR624398,CR626062,X74610,X87193 NP_001164603,NP_001164604,NP_001164605,NP_068578,CAI43239,CAI43240,CAO03625,CAO03626,CAO03627,EAW72688,EAW72689,EAW72690,EAW72691,EAW72692,EAW72693,EAW72694,EAW72695,EAW72696,AAA92652,CAA39090,BAG57449,BAG37234,AAH02934,AAH08912,CAA60645,P98173,Q5HY75,Q9BU27,ACE87600,ACE86913,ADQ31641 Hs.289108 2-19|2.19|DLD|DXS560S|XAP-7 OTTHUMP00000196191|OTTHUMP00000196464|family 3, member A protein protein-coding 1323237 FAM3B family with sequence similarity 3, member B 12160727,16249448,16114871,15489334,12975309,12477932,11707072,10830953,20237496,20379614 54097 NM_058186,NM_206964,AL773578,CH471079,CS488895,AF375989,AF494379,AJ409094,AK125528,AY040086,AY358459,BC036314,BC057829,BF514643,BI712971,CR590284,CR614130,CR626702 NP_478066,NP_996847,EAX09608,EAX09609,EAX09610,CAM55969,AAL34495,AAM94280,CAC83974,AAK74134,AAQ88824,AAH57829,P58499,ADR82668 Hs.473877,Hs.670704 2-21|C21orf11|C21orf76|ORF9|PANDER|PRED44 D21M16SJHU19e|cytokine-like protein 2-21|family with sequence similarity 3, member B|pancreatic derived factor protein-coding 1345832 FAM3C family with sequence similarity 3, member C This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq] 1580863 20379614,12160727,19396169,19109932,16959614,16406369,16344560,16215274,15985535,15489334,15252450,12853948,12477932,9847074 10447 DA144459,DA489351,NM_001040020,AC079401,CH236947,CH471070,CS079683,AK290682,AK292731,BC024200,BC046932,BC068526,CA446040,D87120,NM_014888,DQ786255,DA501135,CS359956 NP_055703,NP_001035109,EAW83558,CAI94481,BAF83371,BAF85420,AAH24200,AAH46932,AAH68526,BAA13251,Q92520,CAL31920 Hs.434053 GS3786|ILEI OTTHUMP00000211220|OTTHUMP00000211222|family with sequence similarity 3, member C|interleukin-like EMT inducer|predicted osteoblast protein protein-coding 2299187 FAM3C2 family with sequence similarity 3, member C2 (pseudogene) 286460 NG_002950,AC117517 MGC45134 pseudo 1313583 FAM3D family with sequence similarity 3, member D 1580863 12160727,16740002,15489334,12975309,12477932,8889548,20677014,17207965 131177 AK127546,AW662283,AY358677,BC015359,CA314533,NM_138805,AC119424,CH471055,AF494381 BAG54521,AAQ89040,AAH15359,Q96BQ1,NP_620160,EAW65382,AAM94282,ADQ31642 Hs.61265 EF7|OIT1 OTTHUMP00000214166|cytokine-like protein EF-7|family with sequence similarity 3, member D protein-coding 1352338 FAM40A family with sequence similarity 40, member A 15302935,17081983,16964243,16710414,15489334,14702039,12588993,12477932,11214970,18782753,17353931,19615732 85369 CB960147,CR600424,AL160006,AL772411,CH471122,AB051548,AK027649,AK098023,AK125054,AK291059,AL834196,BC019919,BC032644,BC040142,BC067239,BC094786,BC119814,BC121793,NM_033088 Q5VSL9,Q6ZU72,Q8WUN4,NP_149079,CAI22715,CAI22716,CAH70967,CAH70968,EAW56428,EAW56429,BAB21852,BAB55265,BAC86034,BAF83748,CAH56368,AAH19919,AAH32644,AAH94786,AAI19815,AAI21794 Hs.584996 FLJ14743|KIAA1761|MGC148091|RP4-773N10.1 6330569M22Rik|OTTHUMP00000013367|homolog of yeast FAR11 protein 1|hypothetical protein LOC85369 protein-coding 1344527 FAM40B family with sequence similarity 40, member B 16381901,16344560,15489336,15489334,12588993,12477932,11076863,10574461,18782753,19615732 57464 NM_020704,NM_001134336,AC009244,CH236950,CH471070,AB032996,AK290165,AK302339,BC019064,DA409007 NP_065755,NP_001127808,EAL24101,EAW83719,EAW83720,BAA86484,BAF82854,BAH13679,AAH19064,Q9ULQ0,CAL37497,CAL37822,CAL37838,CAL38325 Hs.489988 homolog of yeast FAR11 protein 2|hypothetical protein LOC57464 protein-coding 1353463 FAM41AY1 family with sequence similarity 41, member A, Y-linked 1 737633 12477932,9847074 737633 340618 NR_028083,AC015978,BC042981 Hs.434364 FAM41AY miscrna 2311620 FAM41AY2 family with sequence similarity 41, member A, Y-linked 2 9847074 100302526 NR_028084,AC007241,AC069130,BC042981,NG_004636 Hs.434364 miscrna 1353260 FAM41BY family with sequence similarity 41, member B, Y-linked 414324 1342738 FAM41C family with sequence similarity 41, member C 737633 16710414,12477932 737633 284593 NR_027055,AL669831,BC047940 P0C7U8 Hs.449006 miscrna 1349860 FAM42B family with sequence similarity 42, member B 388159 XM_370893 1343774 FAM43A family with sequence similarity 43, member A 737633 7829101,15498874,15489334,14702039,12477932 737633 131583 NM_153690,AC046143,CH471052,AF147314,AF289585,AK074503,BC039689,BC064989,BG107959,BG110772,BI494721,BM561125,BQ009970,CR594580,CR611019 NP_710157,EAW78033,AAL55769,BAC11027,AAH39689,AAH64989,Q8N2R8 Hs.435080 FLJ90022 hypothetical protein LOC131583 protein-coding 1346194 FAM43B family with sequence similarity 43, member B 16710414,14702039,12477932 163933 NM_207334,AL391357,AK126900,BC015675,BC142610,BC142686,CR613318,CR622255 NP_997217,CAH73473,BAC86742,AAI42611,AAI42687,Q6ZT52 Hs.429179 FLJ44952 family with sequence similarity 43, member B protein-coding 1344685 FAM45A family with sequence similarity 45, member A 14702039,12477932,15489334,17207965 404636 NM_207009,AL355598,CH471066,AF168713,AK000031,AK025354,AK027029,AK293136,AK293365,AK297633,BC022271,BI753197,BU622639,CA414818,CR609883 NP_996892,CAI14128,EAW49405,EAW49406,EAW49407,AAF87315,BAA90894,BAG56684,BAG56879,BAG60006,AAH22271,Q8TCE6,Q9NRV0,ADQ32122 Hs.727639 hypothetical protein LOC404636 protein-coding 1346862 FAM45B family with sequence similarity 45, member B 737633 15489334,12477932,10931946,17207965 737633 55855 NR_027141,CH471107,Z82195,AF220185,AK297971,BC069821,NG_021369 EAX11798,CAI42520,AAF67650,BAG60281,ADQ31946 Hs.727639,Hs.567120 HT011 pseudo 1604353 FAM46A family with sequence similarity 46, member A 17803723,16924696,16713569,16545789,16344560,15489334,15231748,14702039,14574404,12477932,12054608,17207965,20734064 55603 CH471051,AF350451,AI131001,AJ420583,AJ420591,AJ420592,AK000044,AK056057,AK096704,AK292109,AY740520,BC000683,BC007351,BX648876,DA981608,NM_017633,AL078599 CAI23545,EAW48691,EAW48692,AAM53071,BAA90903,BAF84798,AAW66943,AAH00683,AAH07351,Q5TF85,Q96IP4,NP_060103,CAB65981,CAI23543,CAI23544,ADQ32416 Hs.10784 C6orf37|FLJ20037|FLJ31495|XTP11 HBV XAg-transactivated protein 11|OTTHUMP00000016779|hypothetical protein LOC55603|retinal expressed gene C6orf37 protein-coding 1344774 FAM46B family with sequence similarity 46, member B 737633 16710414,16189514,15489334,15146197,14702039,12477932,16713569 737633 115572 NM_052943,AL356390,CH471059,AK122816,BC012790,BC014160,BC036320,CN311438 NP_443175,CAI13555,EAX07777,AAH12790,AAH14160,Q96A09,ABM84423,ABW03574 Hs.632378 MGC16491|MGC20845|RP11-344H11.8 hypothetical protein LOC115572 protein-coding 1352086 FAM46C family with sequence similarity 46, member C 737633 16710414,16189514,15489334,14702039,12477932 737633 54855 NM_017709,AL365331,CH471122,AK000209,AK091327,AL046016,BC036516,BC131726,CD300120 NP_060179,CAH73761,EAW56679,BAA91010,AAH36516,AAI31727,Q5VWP2 Hs.356216 FLJ20202 hypothetical protein LOC54855 protein-coding 1348599 FAM46D family with sequence similarity 46, member D 737633 16189514,15772651,15489334,12477932,19377476,19540335 737633 169966 CH471104,AK128147,NM_152630,AL591431,AK313875,BC034979,BX537938,BC028710,BC030784,BX506299,NG_016384,NM_001170574 CAH69981,EAW98586,BAG54638,NP_689843,AAH30784,AAH34979,CAD97909,Q8NEK8,ABM81772,ABM84926,BAG36603,AAH28710,NP_001164045 Hs.367959 CT1.26|CT112|MGC26999 cancer/testis antigen 112|hypothetical protein LOC169966 protein-coding 1347430 FAM47A family with sequence similarity 47, member A 737633 18029348,15772651,15489334,12477932,17924679 737633 158724 NM_203408,AL591625,CH471074,AK292354,BC026171,AI141715,DB445010,NG_021359 NP_981953,CAI41438,EAW99068,BAF85043,AAH26171,Q5JRC9 Hs.143268 MGC27003 hypothetical protein LOC158724 protein-coding 1344119 FAM47B family with sequence similarity 47, member B 737633 15772651,15489334,14702039,12477932 737633 170062 BC035026,NM_152631,AL645585,CH471074,AK093101,AL043092,AL043093,NG_021372 AAH35026,Q8NA70,NP_689844,CAI41598,EAW99072,BAC04056 Hs.197801 FLJ35782 hypothetical protein LOC170062 protein-coding 1605768 FAM47C family with sequence similarity 47, member C 16344560 442444 AK125992,BX842568,NM_001013736,DB082026,NG_021373,HC006948,HC044829 CAI40150,BAC86381,Q5HY64,NP_001013758,CBH19279,CBH30744 Hs.535216 putative protein FAM47C protein-coding 2950048 FAM47DP family with sequence similarity 47, member D (pseudogene) 139249 AC233283,AL627244,NG_008058 A6NHR8 pseudo 2302124 FAM47E family with sequence similarity 47, member E 19915575,20379614,14702039 100129583 NM_001136570,AC034139,AK124936,AK310457,CR591456,CR627383 NP_001130042,BAC85998,Q6ZV65 Hs.720509 FLJ34958 OTTHUMP00000219093|OTTHUMP00000219094|hypothetical protein LOC100129583 protein-coding 1343879 FAM48A family with sequence similarity 48, member A 737633 16751104,16713569,16685401,16344560,15978328,15498874,15489334,15057823,14702039,12477932,12070015,11340631,9373149,17643375,19114550,19615732,19893488,8125298,18838386,20936779 737633 55578 NM_001014286,AL138706,AL391383,CH471075,AF093250,AF370384,AF445026,AJ130894,AK026091,AK027554,AK056121,AK093723,AK225376,NM_017569,AK292376,BC001145,BC030686,CR625667,DA593337,AK304227 NP_060039,NP_001014308,CAI14005,CAI15193,EAX08582,EAX08583,EAX08584,EAX08585,EAX08586,AAD40550,AAQ15220,AAL38587,CAB62207,BAG51343,BAF85065,AAH01145,AAH30686,Q0D2Q4,Q8NEM7,Q8WYR6,ABM82547,ABM87825,BAG65097 Hs.435815 C13|C13orf19|FP757|P38IP|SPT20|bA421P11.4 OTTHUMP00000214949|family with sequence similarity 48, member A|p38 interacting protein|transcription factor (p38 interacting protein)|tumor rejection antigen protein-coding 1344534 FAM48B1 family with sequence similarity 48, member B1 15772651 100130302 NM_001136234,AC004552,AY736017 NP_001129706,AAW59547,Q3ZLR7 Hs.717243 hypothetical protein LOC100130302|protein FAM48B1 protein-coding 1347213 FAM48B2 family with sequence similarity 48, member B2 15772651 170067 NM_001136233,AC096509 NP_001129705,P0C7V6 Hs.716893 FAM48B1 family with sequence similarity 48, member B1|putative protein FAM48B2 protein-coding 1348694 FAM49A family with sequence similarity 49, member A 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863,16344560,8619474,9110174 81553 NM_030797,AC008164,AC104623,CH471053,AK001942,AK055334,AK091280,AK315065,AL136704,BC038971,CR533504,CR595597,CR609359,CR616311,DA188616,AF131789 NP_110424,AAY24282,EAX00878,EAX00879,BAG51503,BAG52323,BAG37539,CAB66639,AAH38971,CAG38535,Q53QW2,Q9H0Q0,CAL37916,CAL38652,ACT64351,ACT64352 Hs.467769 DKFZp566A1524|FLJ11080|FLJ33961 OTTHUMP00000115751|OTTHUMP00000200457|family with sequence similarity 49, member A protein-coding 1354500 FAM49B family with sequence similarity 49, member B 18464913,15489334,15334068,14702039,12477932,11042152,17207965 51571 NM_016623,AC022973,CH471060,AF208851,AK001226,AK002059,AK130372,AY364259,AY598320,BC003599,BC016345,BC017297,CR594067,CR597917,CR616846,CR749628 NP_057707,EAW92125,EAW92126,EAW92127,EAW92128,AAF64265,BAA91566,BAA92062,AAQ76818,AAT06731,AAH03599,AAH16345,AAH17297,CAH18422,Q3ZTR9,Q68D08,Q9NUQ9,Q9NW21,ADQ33146 Hs.126941 BM-009|DKFZp686B04128|L1 hypothetical protein LOC51571 protein-coding 1344714 FAM50A family with sequence similarity 50, member A 1580863 11256614,18029348,10534398,9339379,18515502,16381901,16344560,15772651,15489336,15489334,12477932,11076863,9039504,8889548,8733135,19913121,20628086 9130 NG_013233,NM_004699,BX936365,CH471172,D83389,L44140,AD001530,AK293119,AK313697,AU143518,BC000028,BC015499,BU679052,CR597867,CR612868,CR614465,CR619686,CR623814,CR625912,D83260,HI574110 CAQ08985,NP_004690,CAI43193,EAW72704,EAW72705,EAW72706,EAW72707,EAW72708,BAA11907,AAA92649,AAB81663,BAF85808,BAG36444,AAH00028,AAH15499,BAA11871,Q14320,Q6PJH5,CAL38203,CBX47544 Hs.54277 9F|DXS9928E|HXC-26|XAP5 OTTHUMP00000198798|XAP-5 protein protein-coding 1352003 FAM50B family with sequence similarity 50, member B 1580863 17207965,18515502,16189514,15489334,12477932,10534398 26240 NM_012135,AL391422,CH471087,Y18504,BC001261,CR590152,CR597441,CR600946,CR602326,CR605415,CR623120,Y18503 ADQ32294,NP_036267,CAI13995,EAW55142,EAW55143,CAB46273,AAH01261,CAB46272,Q9Y247 Hs.140944 D6S2654E|X5L OTTHUMP00000015971|family with sequence similarity 50, member B protein-coding 1604984 FAM53A family with sequence similarity 53, member A 15489334,14702039,12477932,11984880,8889548 152877 NM_001174070,NM_001013622,AC016773,AC147067,CH471131,AK125566,BC042071,BC070112,BM676712 NP_001167541,NP_001013644,EAW82581,EAW82582,BAC86205,AAH70112,Q6NSI3 Hs.143314 DNTNP OTTHUMP00000216751|OTTHUMP00000216752|OTTHUMP00000216796|OTTHUMP00000217523|dorsal neural-tube nuclear protein protein-coding 1350576 FAM53B family with sequence similarity 53, member B 737633 15489334,14702039,12477932,12107410,8590280,19727342 737633 9679 NM_014661,AC068896,AL136232,AL513190,CH471066,AK127323,AK127343,AW504054,BC031654,BX344666,CA397342,CR607450,CR621076,D50930 NP_055476,CAH70375,CAH70376,EAW49259,EAW49260,EAW49261,EAW49262,BAG54488,AAH31654,BAA09489,Q14153 Hs.129195 FLJ13019|KIAA0140|RP11-12J10.2|bA12J10.2 OTTHUMP00000020695|hypothetical protein LOC9679 protein-coding 1354003 FAM53C family with sequence similarity 53, member C 16344560,15489334,15302935,14702039,12477932,11161817,11087669,17207965,20936779 51307 NM_016605,NM_001135647,AC104116,CH471062,AF251040,AK027412,AK310378,AK315567,BC000259,BC052993,DA216192,DB035183 NP_057689,NP_001129119,EAW62143,EAW62144,AAF63766,BAG37942,AAH00259,AAH52993,Q9NYF3,ADQ32415 Hs.54056 C5orf6 hypothetical protein LOC51307|putative nuclear protein protein-coding 1344625 FAM54A family with sequence similarity 54, member A 16344560,15489334,14702039,14574404,12477932,17207965 113115 NM_001099286,NM_138419,AL121713,AL138828,CH471051,AA830483,AK125758,AK292303,BC011716,BC063688,BG831782,DB016393 NP_001092756,NP_612428,CAI17907,CAI17908,CAI17909,CAI95284,CAI95285,EAW47953,EAW47954,EAW47955,BAC86277,BAF84992,AAH11716,AAH63688,Q5JWR6,Q5JWR8,Q6P444,ADQ32558 Hs.121536 DUFD1 DUF729 domain containing 1|OTTHUMP00000017273 protein-coding 1606533 FAM54B family with sequence similarity 54, member B 11256614,16381901,16344560,15489336,15221005,14702039,12477932,11230166,11076863,9110174,8889548,8619474 56181 NM_001099625,NM_001099627,NM_019557,NM_001099626,AL020996,CH471059,AB075880,AF173891,AK056721,AK127164,AK290744,AK299221,AK314297,AL512766,AY007100,BC017175,BI545005,BI769886,BM968565,BX647921,CR593585,CR606265,CR609063,CR618060,CR625612,DB170641 NP_001093095,NP_001093097,NP_062457,NP_001093096,EAX07865,EAX07866,EAX07868,AAQ13638,BAG51797,BAF83433,BAG61257,BAG36952,CAC21683,AAH17175,CAH56194,Q9H019,CAL38353,BAD38662 Hs.149305 HYST1888|MST116|MSTP116 OTTHUMP00000008511|hypothetical protein LOC56181 protein-coding 1352335 FAM55A family with sequence similarity 55, member A 737633 12477932 737633 120400 EF444977,NM_152315,AC020549,CH471065,AI347274,BC029049,BC037844,BX648601 ACA05991,NP_689528,EAW67251,EAW67252,AAH29049,Q8N323,ABM81780,ABM84934 Hs.721328 MGC34290 hypothetical protein LOC120400 protein-coding 1349773 FAM55B family with sequence similarity 55, member B 17903292,12477932 120406 NM_182495,AP002774,CH471065,AK057953,BC111797 NP_872301,EAW67255,BAB71621,Q96DL1,AAI48386,AAI56725 Hs.446760 FLJ25224 hypothetical protein LOC120406 protein-coding 1348429 FAM55C family with sequence similarity 55, member C 737633 16344560,14702039,12975309,12477932 737633 91775 NM_145037,NM_001134456,AC020651,AC084198,CH471052,AF173890,AK054664,AK289689,AY358207,BC009431,BQ014992,CR602317,DA213047 NP_659474,NP_001127928,EAW79774,EAW79775,AAQ13637,BAB70787,BAF82378,AAQ88574,AAH09431,Q969Y0,ABM87416,ABW03881 Hs.595933 FLJ30102|MGC15606|MST115|MSTP115 OTTHUMP00000214284|hypothetical protein LOC91775 protein-coding 1350536 FAM55D family with sequence similarity 55, member D 16344560,15375555,14702039,12975309,9373149,8125298,20379614 54827 NM_017678,AC020549,CH471065,AK000134,AK225236,AY358805,AY547307,DA428771,NM_001077639 NP_060148,EAW67253,EAW67254,BAA90965,AAQ89165,AAS55888,Q6UWF7,NP_001071107 Hs.179100 C11orf33|FLJ20127 hypothetical protein LOC54827 protein-coding 1605629 FAM57A family with sequence similarity 57, member A 16143812,15489334,14702039,12621583,12477932,12270127,1227012,20024628 79850 NM_024792,AC087392,CH471108,AF477201,AK025935,AK125146,AK292065,BC009729,BC026023 NP_079068,EAW90655,EAW90656,EAW90657,AAM90843,BAB15286,BAG54156,BAF84754,AAH09729,AAH26023,Q8TBR7 Hs.154396 CT120|FLJ22282 family with sequence similarity 57, member A|membrane protein expressed in epithelial-like lung adenocarcinoma protein-coding 1605610 FAM57B family with sequence similarity 57, member B 11256614,16381901,15498874,15489336,15489334,12477932,11230166,11076863 83723 NM_031478,AC093512,AF370365,AL136777,AL535138,BC007892,CR604281,CR614964,CR615686,CH471238 NP_113666,EAW79937,EAW79938,EAW79939,AAQ15201,CAB66711,AAH07892,Q71RH2,CAL37764,CAL38514 Hs.558560 DKFZp434I2117|FP1188 OTTHUMP00000162981|hypothetical protein LOC83723 protein-coding 1604257 FAM58A family with sequence similarity 58, member A Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 18297069,17213182,16381901,15489336,12477932,11076863 92002 NM_152274,NM_001130997,NG_008393,AF274858,CH471172,AL549300,AY445048,BC001909,BC007232,BC032121,BC071851,CR591949,CR604685,CR609517,CR623450,DQ323993,DT217835 NP_689487,NP_001124469,EAW72851,EAW72852,EAW72853,EAW72854,EAW72855,EAW72856,EAW72857,AAS20614,AAH01909,AAH07232,AAH32121,AAH71851,ABC88595,Q8N1B3,CAL38542 Hs.496943 MGC29729|STAR OTTHUMP00000025932|OTTHUMP00000025936|OTTHUMP00000025937|cyclin M|cyclin-M|cyclin-related protein FAM58A protein-coding 4108538 FAM58AP1 family with sequence similarity 58, member A pseudogene 1 100421487 AC019099,NG_021933 FAM58Y pseudo 1603153 FAM58B family with sequence similarity 58, member B 15897902 339521 NM_001105517,AL590126,CH471067 NP_001098987,EAW91309,P0C7Q3,AAI72299 Hs.705355 cyclin-related protein FAM58B protein-coding 1342843 FAM59A family with sequence similarity 59, member A 737633 19509291,19240061,15951569,15592455,15489334,14702039,12477932,20936779,20379614 737633 64762 NM_022751,AC009835,AC015563,AC021224,CH471088,AK025263,AK025660,AK297430,AL834491,BC005074,BC121067,BC121068 NP_073588,EAX01286,EAX01287,BAB15094,BAG59858,CAD39149,AAH05074,AAI21068,AAI21069,Q9H706 Hs.444314 C18orf11|GAREM|Gm944 Grb2-associated and regulator of Erk/MAPK|chromosome 18 open reading frame 11|family with sequence similarity 59, member A protein-coding 1603263 FAM59B family with sequence similarity 59, member B 12477932 150946 AA736392,CX759737,NM_001168241,NM_001191033,AC011742,AB015349,AB124552,AK090454 NP_001161713,NP_001177962,BAA88120,BAC99057,BAC03435,Q75VX8 Hs.187912 FLJ00375|KIAA2038 family with sequence similarity 59, member B protein-coding 1605645 FAM5B family with sequence similarity 5, member B 16710414,15489334,14702039,12477932,11214970,9110174,8619474 57795 NM_021165,AL021398,AL022143,CH471067,AB051534,AB161694,AF131833,AK098386,AK123336,AK296524,AL035289,BC028036 NP_066988,CAI18922,EAW91009,BAB21838,BAD34946,AAD20055,BAC85583,BAG59155,CAA22893,AAH28036,Q9C0B6 Hs.495918 BRINP2|DBCCR1L2|FLJ41342|KIAA1747|RP5-1026E2.1 BMP/retinoic acid-inducible neural-specific protein 2|DBCCR1-like2|family with sequence similarity 5, member B protein-coding 1606655 FAM5C family with sequence similarity 5, member C 18430236,17903301,17138656,16710414,16018821,15489334,12477932,19019082,19787213,20379614,20383335,20339536 339479 NM_199051,AL354771,AL365402,AL391645,CH471067,AB111893,AK123024,AK123637,AK294365,BC105052,BC105054,U67037 NP_950252,CAI15426,CAH73887,CAI15441,EAW91222,BAD04066,BAG53853,BAG53928,BAH11746,AAI05053,AAI05055,AAD09521,Q76B58 Hs.65765 BRINP3|DBCCR1L|DBCCR1L1|RP11-445K1.1 family with sequence similarity 5, member C protein-coding 1347576 FAM60A family with sequence similarity 60, member A 737633 16381901,16344560,16189514,15489336,15489334,15334068,14702039,12477932,11230166,11076863,11042152 737633 58516 AK294457,NM_021238,NM_001135811,NM_001135812,AC024940,AX014855,CH471116,AF087885,AF212220,AK026932,AL157432,AY598323,BC000024,BC004462,BC071966,BX648630,DA741767,DR763430,FB775512 BAH11773,NP_067061,NP_001129283,NP_001129284,EAW88561,EAW88562,EAW88563,EAW88564,EAW88565,EAW88566,EAW88567,AAP97184,AAF87322,BAB15592,CAB75656,AAT06734,AAH00024,AAH04462,AAH71966,Q9NP50,CAL37992,CAV30713 Hs.505154 C12orf14|L4|TERA chromosome 12 open reading frame 14|family with sequence similarity 60, member A protein-coding 4146227 FAM60CP family with sequence similarity 60, member C pseudogene 728115 AC090377,NG_027872 pseudo 1603985 FAM63A family with sequence similarity 63, member A 15231747,16344560,14702039,12477932,10718198,17207965,20383146 55793 NM_018379,NM_001040217,NM_001163258,NM_001163259,NM_001163260,AL590133,CH471121,AB037811,AK002142,AK125493,AK125959,AK301946,AK303962,AW072847,BC014447,BC032321,BC075812,CR594376,DA016747,DA292825,DA677196,DB023382 NP_060849,NP_001035307,NP_001156730,NP_001156731,NP_001156732,CAI13336,EAW53491,EAW53492,EAW53493,EAW53494,EAW53495,BAA92628,BAA92104,BAG54206,BAG54270,BAG63364,BAG64886,AAH32321,Q8N5J2,ADQ31746 Hs.3346 FLJ11280|FLJ43504|RP11-316M1.5 hypothetical protein LOC55793 protein-coding 1607025 FAM63B family with sequence similarity 63, member B 16344560,14702039,12477932,10574461 54629 BC035563,NM_001040453,AC090515,CH471082,AB032990,AB075509,AK022891,AK075319,AK297291,AL049226,AL833610,NM_001040450,BC060514,BC140811,BC144616,DA248971,DB523031 NP_001035540,NP_001035543,EAW77544,EAW77545,EAW77546,EAW77547,EAW77548,BAA86478,BAE45756,BAC11545,BAG59761,AAI40812,AAI44617,Q3LIB2,Q8NBR6 Hs.591122 KIAA1164 hypothetical protein LOC54629 protein-coding 1604005 FAM64A family with sequence similarity 64, member A 18757745,15489334,14702039,12477932,9373149,8125298,16491119,18482256 54478 NM_019013,AC055872,CH471108,AK001018,AK001353,AK225613,AK225702,BC005004,BC013966,CR590914,CR593554,CR599536,CR599575,CR601708,CR603545,CR607871,CR611543,CR615122,CR615617,CR615844,CR617626,NM_001195228 NP_061886,EAW90306,EAW90307,EAW90308,EAW90309,BAA91468,BAA91644,AAH05004,AAH13966,Q9BSJ6,NP_001182157 Hs.592116 FLJ10156|FLJ10491|RCS1 family with sequence similarity 64, member A|regulator of chromosome segregation 1 protein-coding 1606508 FAM65A family with sequence similarity 65, member A 18029348,15302935,14702039,12477932,11572484,15146197 79567 BC001850,BC041086,BC054512,BC098587,CN401995,DC310605,DC422629,NM_001193522,NM_001193523,NM_001193524,NM_024519,AC027682,CH471092,AB067517,AK023787,AK097087,AK127792,AK293748,AK295677,AK302868,AK307467,AL834312,HI573872 AAH01850,AAH54512,AAH98587,Q6ZS17,AAI56640,NP_001180451,NP_001180452,NP_001180453,NP_078795,EAW83138,EAW83139,EAW83140,EAW83141,BAB67823,BAB14678,BAC87139,BAG57170,BAG58534,BAG64050,CAD38982,CBX47425 Hs.152717 FLJ13725|KIAA1930 OTTHUMP00000174840|hypothetical protein LOC79567 protein-coding 1315839 FAM65B family with sequence similarity 65, member B The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative cytotrophoblasts during trophoblast differentiation. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 20936779,17150207,16344560,12477932,12369935,9786461,9205841,9055809 9750 NM_015864,NM_014722,AL078584,AL512428,CH471087,AB002384,AK299047,AK300138,AK300950,BC000930,BC001232,DA258515,DA675350,U49187 CAH73086,CAH73087,CAI19934,CAI19935,NP_056948,NP_055537,EAW55467,EAW55468,EAW55469,EAW55470,EAW55471,EAW55472,BAA20840,BAH12935,BAH13222,BAH13380,AAH01232,AAC51134,Q9Y4F9 Hs.559459 C6orf32|DIFF40|DIFF48|KIAA0386|PL48 family with sequence similarity 65, member B|hypothetical protein LOC9750 protein-coding 1313101 FAM65C family with sequence similarity 65, member C 15197164,15146197,14702039,12107410,11780052,20877624 140876 NM_080829,AL133230,CH471077,AI056877,AK056792,AK090440,AK295781,AK299337,AL732057,CA389799,CF272670,CN268262,DT932687 NP_543019,CAI21688,EAW75618,EAW75619,EAW75620,EAW75621,EAW75622,BAB71286,BAC03421,BAH12186,BAH13006,Q8NF41,Q96MK2,AAI60013 Hs.372578 C20orf175|FLJ00360|FLJ32230|dJ530I15.2 OTTHUMP00000165079|hypothetical protein LOC140876 protein-coding 2303336 FAM66A family with sequence similarity 66, member A 16344560,11181995 100133172 NR_026789,AC087203,CH471157,AK311040,DC372067 EAW65640 Hs.721640 FLJ18082 miscrna 3398788 FAM66B family with sequence similarity 66, member B 14702039 100128890 AC130360,AF228730,AK302471,NR_027423 BAG63761 Hs.694680 FAM66E|FLJ53539 miscrna 1602394 FAM66C family with sequence similarity 66, member C 14702039,12477932 440078 NR_026788,AC092111,AK096301,BC034777,BC048994,CR599534 Hs.512257 miscrna 2303483 FAM66D family with sequence similarity 66, member D 100132923 NR_027425,AC130366,AC145124,AK294595,AL390183 BAG57783 Hs.546711 FLJ56781 miscrna 1605163 FAM66E family with sequence similarity 66, member E 100132103 AC105233,NR_027424,AC130365 P0C841 miscrna 1603475 FAM69A family with sequence similarity 69, member A This gene may encode a transmembrane protein. Transcript variants of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq] 17207965,19506219,16710414,15489334,12477932,20889312,19834503,20087403 388650 NM_001006605,AC093577,AL162740,AL449283,CH471097,AK027146,AK303700,AL536469,BC070342,CR600872,DB475309 ADQ32038,NP_001006606,CAI22507,EAW73086,BAG64686,AAH70342,Q5T7M9 Hs.180946 FLJ23493 family with sequence similarity 69, member A protein-coding 1602652 FAM69B family with sequence similarity 69, member B 12477932,16169070 138311 NM_152421,AL355987,AL590226,CH471090,AF318355,AJ420457,BC032097,BG700129 NP_689634,CAI12696,CAI12700,CAH71724,CAH71725,EAW88253,EAW88254,AAL55862,AAH32097,Q5VUD6,Q5VUD7 Hs.725213 C9orf136|MGC20262|pp6977 hypothetical protein LOC138311 protein-coding 1353681 FAM69C family with sequence similarity 69, member C 12477932,20379614 125704 NM_001044369,AC009704,AI375747,BC019628,CR618658 NP_001037834,AAH19628,Q0P6D2 Hs.371690 C18orf51 hypothetical protein LOC125704 protein-coding 1349970 FAM6A family with sequence similarity 6, member A 11352565 282696 AF307337 1605993 FAM70A family with sequence similarity 70, member A 16344560,15772651,15489334,14702039,12477932 55026 NM_001104545,NM_001104544,NM_017938,AC002086,AL512286,CH471107,AF450484,AK000723,AK056403,AK289684,BC047054,DA758358,DB165640 NP_001098015,NP_001098014,NP_060408,CAI40800,CAI40801,CAI40802,EAX11887,EAX11888,EAX11889,EAX11890,AAP97678,BAA91341,BAG51698,BAF82373,AAH47054,Q5JRV8,Q7Z4S8 Hs.437563 FLJ20716|RP3-525N14.6 hypothetical protein LOC55026 protein-coding 1602045 FAM70B family with sequence similarity 70, member B 15489334,15057823,12477932 348013 AC187648,AK295653,NM_182614,BX072579,BX088578,CH471085,BC018995 BAG58520,NP_872420,CAH71172,CAI15047,EAX09225,AAH18995,Q8WV15,ACE87140,ACE86459 Hs.280805 FLJ57938|MGC20579|RP11-199F6.1 family with sequence similarity 70, member B protein-coding 1606700 FAM71A family with sequence similarity 71, member A 16710414,15489334,14702039,12477932,16344560 149647 NM_153606,AL590648,CH471100,AK057358,AK315021,BC035007,AK301981,DB031502,DB509538 NP_705834,CAH72658,EAW93382,BAG51906,BAG37511,AAH35007,Q8IYT1,BAG63389 Hs.129293 FLJ32796|RP11-338C15.4 hypothetical protein LOC149647 protein-coding 1606142 FAM71B family with sequence similarity 71, member B 14702039,12477932 153745 NM_130899,AC010609,CH471062,AF465821,AK057543,AY973323,BC022035,BC025397,BC025409,BC025998 NP_570969,EAW61609,AAL77003,BAB71526,AAY41236,AAH22035,AAH25397,AAH25409,AAH25998,Q8TC56,Q8TEW9 Hs.666099 MGC26988 family with sequence similarity 71, member B protein-coding 1606688 FAM71C family with sequence similarity 71, member C 16189514,15489334,12477932,17207965 196472 NM_153364,AC141554,CH471054,AK312767,BC031221,HC006952,HC044745 NP_699195,EAW97617,BAG35633,AAH31221,Q8NEG0,ADQ31621,CBH19281,CBH30702 Hs.591011 MGC39520 hypothetical protein LOC196472 protein-coding 1353197 FAM71D family with sequence similarity 71, member D 18029348,15489334,14702039,12477932,16344560 161142 NM_173526,AL135978,CH471061,AK093449,AK302154,BC037380,BC050401,DB056257 NP_775797,EAW80927,BAC04169,BAG63525,AAH50401,Q8N9W8 Hs.412818 C14orf54|FLJ36130 chromosome 14 open reading frame 54|hypothetical protein LOC161142 protein-coding 1604551 FAM71E1 family with sequence similarity 71, member E1 12477932 112703 NM_138411,AC020909,CH471135,AK125745,AK131032,BC004941,BC012203,BC071737,CR611414,CR615589 NP_612420,EAW71867,EAW71868,EAW71869,EAW71870,BAG54242,AAH04941,AAH12203,AAH71737,Q6IPT2 Hs.448941 FLJ27522|FLJ43757 hypothetical protein LOC112703 protein-coding 1348410 FAM71E2 family with sequence similarity 71, member E2 12477932,19913121,20628086 284418 NM_001145402,AC020922,AK127979,AL834316,BC031875 NP_001138874,CAD38986,AAH31875 Hs.528319 C19orf16|DKFZp434G1729|MGC35045 hypothetical protein LOC284418 protein-coding 1606759 FAM71F1 family with sequence similarity 71, member F1 17207965,18317470,14702039,12477932 84691 NM_032599,AC018638,AC024952,AC093183,CH236950,CH471070,AF367470,AK093161,AK302221,AK310308,AK310426,AK313608,BC032842,BC037248,BC040906,BG723812,HC007190 ADQ32808,NP_115988,EAW83670,AAK53406,BAC04080,BAG63577,AAH37248,Q8NA48,Q96KD3,CBH19400 Hs.131098 FAM137A|NYD-SP18 OTTHUMP00000212720|family with sequence similarity 137, member A|testes development-related NYD-SP18 protein-coding 1604702 FAM71F2 family with sequence similarity 71, member F2 17672918,12690205,12477932 346653 NM_001012454,NM_001128926,AC018638,AC093183,CH236950,CH471070,BC047310,BC066973,BC105729,BC105730,BC105731,BI828876 NP_001012457,NP_001122398,EAL24114,EAW83666,AAH47310,AAH66973,AAI05730,AAI05731,AAI05732,Q6NXP2 Hs.445236 FAM137B OTTHUMP00000212717|OTTHUMP00000212718|OTTHUMP00000212719|family with sequence similarity 137, member B|hypothetical protein LOC346653 protein-coding 1626688 FAM72A family with sequence similarity 72, member A 18676834,16710414,15489334,15252450,12477932 729533 NM_001123168,CR407567,BC035696,BC137545,BC146978,BC146992,DQ786198 NP_001116640,CAH72364,CAH72365,CAH72366,AAH35696,AAI37546,AAI46979,AAI46993,Q5TYM5,Q5TYM6 Hs.661924 MGC169168|MGC182081|MGC182095|MGC46651|MGC57827|RP11-312O7.1 Protein FAM72A|Ugene|hypothetical protein LOC729533 protein-coding 1625813 FAM72B family with sequence similarity 72, member B 12477932,19755123 653820 NM_001100910,AL357493,BC046199,BC137546 Q5QP12,Q86X60,NP_001094380,CAI14136,CAI14137,CAI14138,CAI14139,AAH46199,AAI37547 Hs.339665 RP11-439A17.6|p17 OTTHUMP00000038572|OTTHUMP00000038573|amyloid-beta peptide-induced protein p17|hypothetical protein LOC653820 protein-coding 1625814 FAM72C family with sequence similarity 72, member C 554282 AL109948 CAI23570,Q5TEC7 RP5-998N21.9 family with sequence similarity 72, member C protein-coding 1626691 FAM72D family with sequence similarity 72, member D 12477932 728833 NM_207418,AL109844,CR589924,AB096683,AK307197 NP_997301,CAM28367,CAM28368,BAD20788,Q6L9T8 Hs.535577 FLJ97145|GCUD2|MGC182081|MGC182095|MGC57827 family with sequence similarity 72 member|gastric cancer up-regulated-2|hypothetical protein LOC653573|hypothetical protein LOC728833 protein-coding 1605523 FAM73A family with sequence similarity 73, member A 12477932,14702039 374986 BX537792,BX641170,NM_198549,AC114487,AC138392,CH471059,AK092412,AK296411,BC130387,BC144167 CAD97844,CAE46075,Q8NAN2,NP_940951,EAX06364,BAC03880,BAG59075,AAI30388,AAI44168 Hs.632419 DKFZp686M07166|FLJ35093 hypothetical protein LOC374986 protein-coding 1322047 FAM73B family with sequence similarity 73, member B 16303743,14702039,12477932 84895 NM_032809,AL592211,CH471090,AJ420465,AK027502,AK054974,AK074127,AK075421,BC009114,CR595780,CR619458,AK301241,AK303036 NP_116198,CAI12367,CAQ10246,EAW87861,EAW87862,EAW87863,EAW87864,EAW87865,EAW87866,BAB55159,BAB70835,BAB84953,BAC11611,AAH09114,Q7L4E1,Q96NP4,BAG62810,BAG64160 Hs.632693 C9orf54|FLJ00199|FLJ14596 hypothetical protein LOC84895 protein-coding 2303471 FAM74A1 family with sequence similarity 74, member A1 15489334,15164053,12477932 401507 NR_026803,BX664726,BC118602 CAI17098,Q5RGS3 Hs.553802 miscrna 2306345 FAM74A2 family with sequence similarity 74, member A2 15489334,15164053 653114 AL596385,NR_027461 CAI95395,Q5RGS3 FLJ45202 miscrna 1625851 FAM74A3 family with sequence similarity 74, member A3 728495 NR_026801,AL353770 CAI95182,Q4VXF1 miscrna 2303470 FAM74A4 family with sequence similarity 74, member A4 15489334,15164053,14702039,12477932 401508 NR_026802,BX005040,AK127145,BC121813 BAC86850,Q5TZK3 FLJ45202 miscrna 2292058 FAM74A5 family with sequence similarity 74, member A5 653809 NG_009745,BX005214 pseudo 2298826 FAM74A6 family with sequence similarity 74, member A6 653123 NG_009678,AL590491 pseudo 2293176 FAM74A7 family with sequence similarity 74, member A7 100133021 XM_001718398,AL445584 XP_001718450 protein-coding 1606852 FAM75A2 family with sequence similarity 75, member A2 12477932 642265 NM_001040065,BX664726,AK302569,BC146855 NP_001035154,CAI17100,BAG63831,AAI46856,Q5RGS2 Hs.575677 FLJ56363 hypothetical protein LOC642265 protein-coding 1603719 FAM75A3 family with sequence similarity 75, member A3 12477932 727830 NM_001083124,AL353770,AL080148 NP_001076593,CAH73359,CAB45741,Q5VYP0 Hs.632078 DKFZp434B204|MGC181958 hypothetical protein LOC727830 protein-coding 1625823 FAM75A4 family with sequence similarity 75, member A4 642629 XM_001714924,AL596385 XP_001714976,CAI95396,Q4VX67 OTTHUMP00000069659|chromosome 9 open reading frame 36-like|family with sequence similarity 75, member A4 protein-coding 1603417 FAM75A5 family with sequence similarity 75, member A5 727905 NM_001113541,AL590491 NP_001107013,CAH70549,Q5VU36 Hs.645497 hypothetical protein LOC727905 protein-coding 2303681 FAM75A6 family with sequence similarity 75, member A6 389730 NM_001145196,AL445584 NP_001138668,CAH73043,Q5VVP1 Hs.455299 hypothetical protein LOC389730 protein-coding 1349918 FAM75B family with sequence similarity 75, member B 404770 NM_001098807,NM_001164339,AL158047 NP_001092277,NP_001157811,CAH73247,Q5VZV4 Hs.584122 C9orf36B|bA388B24.2 chromosome 9 open reading frame 36b protein-coding 1626193 FAM75C1 family with sequence similarity 75, member C1 16344560,14702039 441452 NM_001145124,AL353572,AK093374,DB065037 NP_001138596 Hs.652956 FLJ36055 hypothetical protein LOC441452 protein-coding 4109369 FAM75C2 family with sequence similarity 75, member C2 16344560 645961 AK302448,AL080179,AL353726,DB061043,NM_001166137 BAG63744,CAB45764,NP_001159609,Q9Y4N5 Hs.632070 DKFZp434M131 hypothetical protein LOC645961 protein-coding 4140076 FAM75D2P family with sequence similarity 75, member D2, pseudogene 100130636 AL158154,AL355985,NG_009643 pseudo 4140036 FAM75D3 family with sequence similarity 75, member D3 14702039,15164053 389762 AK126070,AL158154,NM_207416 NP_997299,P0C874 Hs.522246 FLJ44082 FAM75-like protein FLJ44082|Putative FAM75-like protein FLJ44082|hypothetical protein LOC389762 protein-coding 4140044 FAM75D4 family with sequence similarity 75, member D4 389761 AK125847,AL158154,NM_001145197 BAC86316,NP_001138669,Q6ZUB0 Hs.722630 FLJ43859 FAM75-like protein FLJ43859|hypothetical protein LOC389761 protein-coding 4140069 FAM75D5 family with sequence similarity 75, member D5 12477932,16344560 347127 AK125938,AK128229,AL158154,BC104780,BC104782,BX096267,DB098739,NR_026851 BAC86351,Q6ZU75 Hs.215235 FLJ43950|FLJ46362|MGC132440|MGC132442 pseudo 1604511 FAM76A family with sequence similarity 76, member A 17207965,16710414,15489334,14702039,12477932 199870 NM_001143913,NM_152660,NM_001143914,NM_001143915,AL020997,CH471059,AK098318,AK123940,AK290120,AK301672,NM_001143912,AK310165,AL035307,AL035309,BC025768 ADQ32458,NP_001137384,NP_001137385,NP_689873,NP_001137386,NP_001137387,CAI20567,CAI20568,CAI20569,CAI20570,CAI20573,EAX07740,EAX07741,EAX07742,EAX07743,BAC05285,BAF82809,BAG63145,CAA22912,CAA22914,AAH25768,Q8TAV0 Hs.469359 FLJ41946|MGC34648|RP3-426I6.1 OTTHUMP00000003841|hypothetical protein LOC199870 protein-coding 1605286 FAM76B family with sequence similarity 76, member B 12477932,11230166,11076863,17203973,17081983,16381901,16189514,15489336,15489334,15302935,14702039 143684 NM_144664,AP001877,CH471065,AK021591,AK313727,AW118814,BC026013,BC028727,BG718983,BX647586 NP_653265,EAW66962,EAW66963,EAW66964,BAG36469,AAH26013,AAH28727,CAI46088,Q5HYJ3,CAL37784,ABM82140,ABM85323 Hs.288304 MGC33371 hypothetical protein LOC143684 protein-coding 1354321 FAM78A family with sequence similarity 78, member A 737633 15489334,15164053,14702039,12477932,11214971 737633 286336 NM_033387,AL157938,CH471090,AK024434,AK095423,BC029924,BC037559,BC049388 NP_203745,CAI41113,CAI41114,CAI41115,EAW87964,EAW87965,BAB15724,AAH29924,AAH49388,Q5JUQ0,Q5JUQ1,AAI52843,AAI56766 Hs.143878,Hs.704076 C9orf59|FLJ00024|RP11-544A12.6 chromosome 9 open reading frame 59|hypothetical protein LOC286336 protein-coding 1604229 FAM78B family with sequence similarity 78, member B 19064610,16710414,15489334,12477932,19536175 149297 NM_001017961,AL596087,AL626787,CH471067,BC114214,BF510138,CR613414,AK299946 NP_001017961,CAI17242,CAH73109,EAW90771,AAI14215,Q5VT40,BAH13179 Hs.493518 MGC131653 OTTHUMP00000032614|OTTHUMP00000209230|OTTHUMP00000209231|OTTHUMP00000209232|hypothetical protein LOC149297 protein-coding 1353055 FAM7A1 family with sequence similarity 7, member A1 15489334,12477932,11829490 89838 NR_026858,AC135983,AC139426,BC071630,BC137210 Q0P5Q8 Hs.574255 D-X miscrna 1343211 FAM7A2 family with sequence similarity 7, member A2 16572171,15489334,12477932,11829490 100288380 NR_027470,AC026150,BC137222 Hs.642616 D-X miscrna 1347776 FAM7A3 family with sequence similarity 7, member A3 12477932,11829490 89837 NR_026859,AC120045,BC023564,BC071855 Q0P5Q8 Hs.510848 D-X miscrna 1345013 FAM7A4 family with sequence similarity 7, member A4 89836 1347848 FAM7A5 family with sequence similarity 7, member A5 89835 1353114 FAM7B1 family with sequence similarity 7, member B1 89834 1603268 FAM81A family with sequence similarity 81, member A 15489334,12477932 145773 NM_152450,AC091748,AC092754,CH471082,AK299220,AK307975,AL110257,BC022537 NP_689663,EAW77569,EAW77570,BAG61256,AAH22537,Q8TBF8 Hs.531168 MGC26690 hypothetical protein LOC145773 protein-coding 1603176 FAM81B family with sequence similarity 81, member B 15489334,14702039,12477932,20379614 153643 NM_152548,AC008573,AC090071,CH471084,AK058062,AK310245,BC034772,BM560335 NP_689761,EAW96035,EAW96036,BAB71646,AAH34772,Q96LP2 Hs.276287 FLJ25333 hypothetical protein LOC153643 protein-coding 1605570 FAM82A1 family with sequence similarity 82, member A1 18936436,18676680,18070910,14702039,12975309,12477932,19170196,19625176,19692168,20379614,20932654 151393 NM_144713,AC009229,AC016689,AF450129,CH471053,AF435956,AK057516,AK095462,AY358269,BC024243,BR000689,BR000692,DB458482,DB523982,NM_001170791,NM_001170792,NM_001170793 NP_653314,AAY15038,AAX88865,AAM81211,EAX00384,EAX00385,EAX00386,EAX00387,AAM20907,BAB71517,BAC04551,AAQ88636,AAH24243,FAA00414,FAA00417,Q96LZ7,NP_001164262,NP_001164263,NP_001164264 Hs.591566 BLOCK18|FAM82A|FLJ32954|FLJ38143|MGC33318|PRO34163|PYST9371|RMD2|RMD4|hRMD-2|hRMD-4 OTTHUMP00000201374|OTTHUMP00000202011|OTTHUMP00000202012|OTTHUMP00000202013|OTTHUMP00000202074|RMD-2|family with sequence similarity 82, member A|microtubule-associated protein|regulator of microtubule dynamics protein 2 protein-coding 1602700 FAM82A2 family with sequence similarity 82, member A2 18029348,19691131,19773279,17353931,19124842,19012732,18854601,18070910,16820967,15609043,15324660,14702039,12975309,12477932,20936779,17207965,20627780,20877624 55177 NM_018145,AC012476,AJ242719,CH471125,AK001441,AK025963,AK090731,AK092058,AK097286,AK123192,AK123282,AY358793,BC008970,BC063844,BR000691,CR605566,AB000782 NP_060615,CAC39480,EAW92436,EAW92437,EAW92438,EAW92439,EAW92440,EAW92441,BAB46923,BAA91693,BAB15298,BAG52475,BAG53446,BAC85554,BAG53885,AAQ89153,AAH08970,AAH63844,FAA00416,Q96TC7,ADQ31966 Hs.511067 FAM82C|FLJ10579|RMD3|hRMD-3|ptpip51 RMD-3|TCPTP-interacting protein 51|cerebral protein 10|family with sequence similarity 82, member C|microtubule-associated protein|protein tyrosine phosphatase-interacting protein 51|regulator of microtubule dynamics 3|regulator of microtubule dynamics protein 3 protein-coding 1606009 FAM82B family with sequence similarity 82, member B 18070910,15489334,15342556,12477932,10810093,17207965,20877624,21048031 51115 NM_016033,AC103817,CH471060,AF151848,AK000672,BC008509,BC009671,BP199284,BP234465,BR000690,BX640636,AK297896,AK303122 NP_057117,EAW91638,EAW91639,AAD34085,AAH09671,FAA00415,CAE45784,Q6N086,Q96DB5,BAG60217,BAG64228,ADQ32313 Hs.145386 CGI-90|FLJ20665|RMD-1|RMD1 hRMD-1|microtubule-associated protein|regulator of microtubule dynamics 1|regulator of microtubule dynamics protein 1 protein-coding 1602845 FAM83A family with sequence similarity 83, member A 16354590,14702039,12477932,18514066,17207965 84985 AF497803,AK095301,AK098407,CH471060,BC007828,BC052300,BQ927762,DQ280322,DQ280323,NM_207006,NM_032899,AC068228 EAW92023,EAW92024,AAQ07260,EAW92022,BAC05299,AAH07828,AAH52300,ABB91800,ABB91801,Q86UY5,NP_996889,NP_116288,ADQ32933 Hs.379821 BJ-TSA-9|MGC14128 hypothetical protein LOC84985 protein-coding 1323733 FAM83B family with sequence similarity 83, member B 14702039,12477932,20379614 222584 NM_001010872,AL049555,AL512363,CH471081,AK055204,BC101628,BC112275 NP_001010872,CAI21667,CAI15113,EAX04439,BAB70873,AAI01629,AAI12276,Q5T0W9 Hs.657974 C6orf143|FLJ30642|MGC126677|MGC138480 chromosome 6 open reading frame 143|hypothetical protein LOC222584 protein-coding 1344185 FAM83C family with sequence similarity 83, member C 14702039,12477932,11780052,16344560 128876 NM_178468,AL121753,CH471077,AK091116,AK091138,BC113483,DA433905 NP_848563,EAW76218,BAC03594,AAI13484,Q9BQN1,CAX12726 Hs.592149 C20orf128|MGC142043|dJ614O4.7 chromosome 20 open reading frame 128|hypothetical protein LOC128876 protein-coding 1347604 FAM83D family with sequence similarity 83, member D 18485706,16565220,15489334,14702039,12477932,11780052 81610 NM_030919,AL023803,CH471077,AK055793,AK095660,AK303860,BC001068,BC006553,BC053683,BC063661,BC080188,CR594147,CS300536 NP_112181,CAI22033,EAW76008,BAB71016,BAG64799,AAH01068,AAH06553,AAH53683,AAH63661,AAH80188,Q9H4H8,CAK32200 Hs.726442 C20orf129|CHICA|FLJ38341|dJ616B8.3 mitotic spindle protein CHICA protein-coding 1606549 FAM83E family with sequence similarity 83, member E 15851553,12477932,19913121,20628086 54854 NM_017708,AC008403,AC022154,CH471177,AK000207,BC111970,BC111972,CD722642 NP_060178,EAW52356,BAA91009,AAI11971,AAI11973,Q2M2I3 Hs.165803 FLJ20200|MGC138175|MGC138177 hypothetical protein LOC54854 protein-coding 1602306 FAM83F family with sequence similarity 83, member F 12477932,19834535 113828 NM_138435,CH471095,Z82206,Z83847,BC011204,BC031099 NP_612444,EAW60365,EAW60366,CAI42715,CAI21562,AAH11204,AAH31099,Q8NEG4 Hs.197680 hypothetical protein LOC113828 protein-coding 1606850 FAM83G family with sequence similarity 83, member G 17353931,16964243,16625196,15489334,15146197,14702039,12477932,8889548 644815 NM_001039999,AC090286,AK123558,BC105988,BX365956,BX402942,CF138357,CN370352,CR735308,CX165458,DN831927,DY655105 NP_001035088,BAC85645,AAI05989,A6ND36 Hs.710727 FLJ41564 Protein FAM83G|hypothetical protein LOC644815 protein-coding 1603342 FAM83H family with sequence similarity 83, member H 19825039,19828885,20160442,19407157,19220331,18484629,18252228,15146197,12477932,8889548 286077 NG_016652,NM_198488,AC105219,AF370424,AK127960,BC007264,BC033256,BE856638,BM982083,CN272849 NP_940890,AAQ15260,BAC87207,AAH07264,AAH33256,Q6ZRV2,Q71RB4 Hs.67776,Hs.713170 AI3|FLJ46072 FAM83H|OTTHUMP00000164909 protein-coding 1602648 FAM84A family with sequence similarity 84, member A 16820875,15815621,15489334,14702039,12477932,18667531 151354 AC011897,CH471053,AF370404,AJ417080,AK092654,AK314463,BC026346,BC029933,BC052284,NM_145175,BI547868,BX113099 ABM84573,ABM87694,ABM87854,NP_660158,AAY15041,EAX00905,AAQ15240,CAD10038,BAC03938,BAG37071,AAH26346,AAH52284,Q71RD3,Q8NAG4,Q96KN4,ABM84299 Hs.260855 FLJ35392|NSE1|PP11517 OTTHUMP00000200419|neurologic sensory protein 1|neurological/sensory 1 protein-coding 1606136 FAM84B family with sequence similarity 84, member B 17207965,12477722,16490593,15489334,12477932,17401363,17401366,17529967,17618283,17618284,18372901,19549893,20062064,20158306 157638 NM_174911,AC084116,CH471060,AJ417849,AK074285,AK292824,BC033717,BC052957,CR590690 ADQ32502,NP_777571,EAW92090,CAD10629,BAF85513,AAH52957,Q96KN1 BCMP101|NSE2 breast cancer membrane protein 101|breast cancer membrane-associated protein 101|family with sequence similarity 84, member B|neurological/sensory 2 2292709 PRSTS2_H protein-coding 1626194 FAM85A family with sequence similarity 85, member A 619423 CR620525,AC145124,XR_110590,XR_113294 Hs.720324 family with sequence similarity 85, member A miscrna 2300139 FAM85B family with sequence similarity 85, member B 619431 CD106111 Hs.656893 family with sequence similarity 85, member B protein-coding 1603258 FAM86A family with sequence similarity 86, member A 16189514,15489334,12477932,17207965 196483 NM_201598,NM_201400,AC026458,CH471112,AA454579,AY037162,BC010084,BF314717,BG024981,BG683728,BQ215173,BQ921410,CA495371 NP_963892,NP_958802,EAW85229,EAW85230,EAW85231,EAW85232,EAW85233,EAW85234,EAW85235,EAW85236,EAW85237,EAW85238,EAW85239,AAK67640,AAH10084,Q96G04,ADQ32295 Hs.406461,Hs.592086 MGC19636|SB153 hypothetical protein LOC196483 protein-coding 1605607 FAM86B1 family with sequence similarity 86, member B1 16344560,14702039,12477932 85002 NR_003494,NM_001083537,AC145124,AK098138,AL529666,BC048297,BC062615,BC085016,BC093808,BC093810,BC098427,BE729618,CR622002,DA552021 NP_001077006,BAC05241,AAH98427,Q8N7N1 Hs.720105 MGC104828|MGC16279 hypothetical protein LOC85002 protein-coding 1626585 FAM86B2 family with sequence similarity 86, member B2 19718026 653333 AK297741,AK298940,NM_001137610,AC087203 BAG60091,BAG61040,P0C5J1,Q4KMP3,NP_001131082 Hs.458413 hypothetical protein LOC653333 protein-coding 1602694 FAM86C family with sequence similarity 86, member C 16189514,12477932,14702039 55199 NM_001099653,NM_018172,NM_152563,AP002495,CH471076,AK001523,AK130709,AK293221,AK311428,AK311518,AK311675,AK315454,BC032519,BQ921333,DC312827 NP_001093123,NP_060642,NP_689776,EAW74795,EAW74796,EAW74797,EAW74798,EAW74799,EAW74800,EAW74801,EAW74802,BAA91739,BAG56760,BAG37841,AAH32519,Q9NVL1 Hs.567527 FLJ10661|FLJ27199|MGC45068 hypothetical protein LOC55199 protein-coding 1602732 FAM86D family with sequence similarity 86, member D 16641997,16344560,15489334,12477932 692099 NR_024241,AC139453,BC016686,BC043342,BC068011,BC068108,BC094682,CR604218,DA753838 A6NMZ4 Hs.591652 FAM86D pseudo 1602979 FAM87A family with sequence similarity 87, member A 12477932 157693 XM_001719631,XM_001719709,XM_001721137,AC136777,BC037297 XP_001719683,XP_001719761,XP_001721189,P0C7U9 Hs.591390 protein-coding 1606075 FAM87B family with sequence similarity 87, member B 14702039 400728 XM_001719643,XM_001713962,XM_001721145,AL669831,AK097327 XP_001719695,XP_001714014,XP_001721197,BAC04999,Q8N852 Hs.591390 FLJ40008 protein-coding 1602405 FAM89A family with sequence similarity 89, member A 16710414,15489334,12477932 375061 CD365446,NM_198552,AL732414,BC009447,CR590053,CR590371,CR598847,CR611018,CR613855,CR617492 NP_940954,CAH73704,AAH09447,Q96GI7 Hs.38516 C1orf153|MGC15887|RP11-423F24.2 family with sequence similarity 89, member A protein-coding 1606565 FAM89B family with sequence similarity 89, member B 17207965,15489334,12477932,11958456,10512749,9525630,9110174,8619474 23625 NM_001098784,NM_001098785,NM_152832,AP001362,AF052151,BC032373,BE394215,BQ927525,CR610230,CR612503,CR615607,CR616644,DR001553,BC023991 NP_001092254,NP_001092255,NP_690045,ADQ32093,AAH23991,AAH32373,Q8N5H3 Hs.25723 MTVR1 family with sequence similarity 89, member B|mammary tumor virus receptor homolog 1 protein-coding 1351875 FAM8A1 family with sequence similarity 8, member A1 1580863 16344560,15489334,15144186,14574404,12477932,11707071 51439 NM_016255,AF097026,AL138824,CH471087,AF086479,AF097027,AK074301,AK296393,AK307681,AK312814,AL050128,BC047881,BQ015864,DA333190 NP_057339,AAF07849,CAI12251,EAW55382,EAW55383,AAF07850,BAG59061,BAG35672,AAH47881,Q9UBU6 Hs.95260 AHCP|FLJ23721 Autosomal Highly Conserved Protein|family with sequence similarity 8, member A1 protein-coding 3208149 FAM8A10P family with sequence similarity 8, member A10 pseudogene 12815422,9847074 386728 AC010080,NG_004755 pseudo 1343456 FAM8A2P family with sequence similarity 8, member A2 pseudogene 11707071 728097 NG_009310,AC022882,AF315800 pseudo 1350392 FAM8A3P family with sequence similarity 8, member A3 pseudogene 11707071 100129594 NG_009311,AC007394,AF315797 pseudo 1348074 FAM8A4P family with sequence similarity 8, member A4 pseudogene 11707071 114180 AF315801,AC002992,NG_023041 pseudo 1351379 FAM8A5P family with sequence similarity 8, member A5 pseudogene 11707071 114181 NG_001298,AF315798,BX296568,CR753309,CR753841,CR933540 pseudo 1342521 FAM8A6P family with sequence similarity 8, member A6 pseudogene 11707071 114182 NG_001299,AL078590,AF315799 pseudo 1343399 FAM8A7P family with sequence similarity 8, member A7 pseudogene 12815422 386725 NG_003134,AC016749 pseudo 1350260 FAM8A8P family with sequence similarity 8, member A8 pseudogene 12815422 386726 NG_003135,AC002992 pseudo 1344549 FAM8A9P family with sequence similarity 8, member A9 pseudogene 12815422,9847074 386727 NG_003136,AC007678 pseudo 1605664 FAM90A1 family with sequence similarity 90, member A1 16344560,14702039,12477932,17684299 55138 CH471116,AK001270,BC042608,DA088850,NM_018088,AC092111 EAW88629,EAW88630,BAA91593,AAH42608,Q86YD7,NP_060558 Hs.196086 FLJ10408 hypothetical protein LOC55138 protein-coding 1602388 FAM90A10 family with sequence similarity 90, member A10 17684299 441328 NM_001164447,AC084121,DC395395 NP_001157919,A6NDY2 Hs.694406 putative protein FAM90A10 protein-coding 1605165 FAM90A11 family with sequence similarity 90, member A11 441331 NG_006010,AC105233 FAM90A11P pseudo 1604127 FAM90A12 family with sequence similarity 90, member A12 16421571,17684299 645879 XM_928853,AC105233 XP_933946,A8MX19 Putative protein FAM90A12|family with sequence similarity 90, member A12 protein-coding 1605169 FAM90A13 family with sequence similarity 90, member A13 17684299 441314 NM_001164456,AF228730 NP_001157928,P0C7W8 Hs.723801 putative protein FAM90A13 protein-coding 1604669 FAM90A14 family with sequence similarity 90, member A14 17684299 645651 NM_001164452,AC084121 NP_001157924,P0C7W9 Hs.723802 putative protein FAM90A14 protein-coding 1604443 FAM90A15 family with sequence similarity 90, member A15 17684299 389630 XM_001726945,AF228730 XP_001726997,P0C7V4 family with sequence similarity 90, member A15|putative protein FAM90A15 protein-coding 1605168 FAM90A16 family with sequence similarity 90, member A16 441323 NG_011769,AC084121 A6NEW6 pseudo 1604856 FAM90A17 family with sequence similarity 90, member A17 16421571 728746 NG_011770,AC084121 A6NEW6 pseudo 1605167 FAM90A18 family with sequence similarity 90, member A18 17684299 441326 NM_001164451,AC084121 NP_001157923,A6NE21 Hs.723803 FAM90A19 putative protein FAM90A18/FAM90A19 protein-coding 1604855 FAM90A19 family with sequence similarity 90, member A19 17684299 728753 NM_001164449,AC084121 NP_001157921,A6NE21 Hs.723803 FAM90A18 putative protein FAM90A18/FAM90A19 protein-coding 1605741 FAM90A20 family with sequence similarity 90, member A20 16421571,17684299 728430 NM_001164453,AF228730 NP_001157925,A6NIJ5 Hs.723626 putative protein FAM90A20 protein-coding 1605149 FAM90A21P family with sequence similarity 90, member A21 pseudogene 619418 NG_005998,AC134684 pseudo 1604861 FAM90A22 family with sequence similarity 90, member A22 645558 NG_006001,AC134684 A8MWA6 FAM90A22P pseudo 1604860 FAM90A23 family with sequence similarity 90, member A23 645572 NG_006002,AC134684 A8MXZ1 FAM90A23P pseudo 1605164 FAM90A24P family with sequence similarity 90, member A24 (pseudogene) 441332 NG_006004,AC105233 P0C7X0 FAM90A24 pseudo 1604441 FAM90A25P family with sequence similarity 90, member A25 pseudogene 389633 CX762572,NR_036463,AC087203,AL832996 CAH56347,Q658T7 Hs.690502,Hs.650464 pseudo 1606041 FAM90A2P family with sequence similarity 90, member A2 pseudogene 729689 NG_005959,AC130366,AC145124 pseudo 1602036 FAM90A3 family with sequence similarity 90, member A3 17684299 389611 XM_372013,AF228730 XP_372013 family with sequence similarity 90, member A3 protein-coding 1605170 FAM90A4P family with sequence similarity 90, member A4 pseudogene 441313 NG_006005,AF228730 FAM90A4 pseudo 1602392 FAM90A5 family with sequence similarity 90, member A5 17684299 441315 NM_001164455,AF228730 NP_001157927,A8MXJ8 Hs.723793 putative protein FAM90A5 protein-coding 1604444 FAM90A6P family with sequence similarity 90, member A6 pseudogene 389618 NG_006009,AC134684 pseudo 1602391 FAM90A7 family with sequence similarity 90, member A7 17684299 441317 NM_001136572,AC134684,AK301810 NP_001130044,BAG63259,A6NKC0 Hs.715411 OTTHUMP00000196827|putative protein FAM90A7 protein-coding 1602390 FAM90A8 family with sequence similarity 90, member A8 17684299 441324 NM_001164450,AC084121 NP_001157922,A6NJQ4 Hs.694406 putative protein FAM90A8 protein-coding 1602389 FAM90A9 family with sequence similarity 90, member A9 17684299 441327 NM_001164448,AC084121 NP_001157920,A6NNJ1 Hs.723804 putative protein FAM90A9 protein-coding 1605857 FAM91A1 family with sequence similarity 91, member A1 17081983,16421571,15302935,14702039,12477932,19734545,20686608 157769 NM_144963,AC011134,CH471060,AK074370,AK300603,AL832830,AL832999,BC030520,BC144630,DQ228141 NP_659400,EAW92049,EAW92050,EAW92051,EAW92052,BAB85063,BAG62300,CAH56231,CAH56297,AAH30520,ABB17070,Q658Y4,Q8N6F3,AAI67793 Hs.459174 DKFZp666B104|FLJ23790 hypothetical protein LOC157769|skeletal muscle cells re-entry induced protein-coding 1603385 FAM91A2 family with sequence similarity 91, member A2 14702039,12477932,9455484 57234 XM_934503,AL358813,AL451058,AB007962,AK090660,BC021732 XP_939596 Hs.645966,Hs.647735 KIAA0493 protein-coding 1642208 FAM91A3P family with sequence similarity 91, member A3 pseudogene 729182 NG_007181,AL356957 pseudo 1604747 FAM92A1 family with sequence similarity 92, member A1 19059705,17646714,14702039,12477932 137392 NM_145269,AC010834,AC120053,AK096298,BC014598,BC108707,CR621981,CR627475,DQ327715,DQ327716 NP_660312,BAC04753,AAH14598,AAI08708,CAH10675,ABC55436,ABC55437,A1XBS5 Hs.125038 FLJ38979 hypothetical protein LOC137392 protein-coding 1626255 FAM92A2 family with sequence similarity 92, member A2 12477932,10737800 729073 NG_011983,AC022408 A6NJH2 DKFZp564I0278 pseudo 1602947 FAM92A3 family with sequence similarity 92, member A3 12477932 403315 NR_003612,AC019193,BC022019,BC047622,BC059396,BC094692 Q504Y5 Hs.652187 MGC102964|MGC71735 pseudo 1603858 FAM92B family with sequence similarity 92, member B 18580884,12477932,19262523 339145 NM_198491,AC026469,CH471114,AK126284,BC093665,BC111944 NP_940893,EAW95458,EAW95459,BAC86515,AAH93665,AAI11945,Q6ZTR7 Hs.125713 FLJ44299|MGC138149 hypothetical protein LOC339145 protein-coding 2293293 FAM93B family with sequence similarity 93, member B 12477932 619342 BC030685 Hs.621220 family with sequence similarity 93, member B protein-coding 2303479 FAM95B1 family with sequence similarity 95, member B1 14702039,12477932 100133036 NR_026759,BX664727,AK094938,AK125850,AL833349,BC064148 Hs.584289 DKFZp686P0734|FLJ37619 miscrna 1602086 FAM96A family with sequence similarity 96, member A 16189514,15489334,15146197,14702039,12477932,8889548 84191 NM_001014812,NM_032231,AC021541,CH471082,CS072305,AK312171,BC008865,BM706342,CN421575,CR590906,CR593073,AK304202 NP_001014812,NP_115607,EAW77660,EAW77661,EAW77662,CAI93443,BAG35105,AAH08865,Q9H5X1,BAH14131 Hs.439548 FLJ22875 MIP18 family protein FAM96A|family with sequence similarity 96, member A protein-coding 1602116 FAM96B family with sequence similarity 96, member B 16189514,15489334,12477932,12107413,11042152,10810093,17353931 51647 NR_024525,NM_016062,AC009084,CH471092,AF151886,AF161467,BC001733,BC005023,BI598300,BM091095,CD674578,CR620340 NP_057146,EAW83056,AAD34123,AAF29082,AAH01733,AAH05023,Q9Y3D0 Hs.9825 CGI-128 MSS19-interacting protein of 18 kDa|hypothetical protein LOC51647|mitotic spindle-associated MMXD complex subunit MIP18 protein-coding 1603675 FAM98A family with sequence similarity 98, member A 14702039,12477932 25940 NM_015475,AC017050,CH471053,CQ783714,AK027432,AK074867,AK096187,AK300023,AK302233,AL049943,BC020907,BC038581,BC060860,BC136768,BC136770,CR625595,CR936766 NP_056290,EAX00431,CAF86825,BAC11255,BAG53226,BAG61835,BAG63587,CAB43217,AAH20907,AAH60860,AAI36769,AAI36771,Q05CT2,Q8NCA5 Hs.468140 DKFZp564F0522|DKFZp686O03192 OTTHUMP00000201327|hypothetical protein LOC25940 protein-coding 1606116 FAM98B family with sequence similarity 98, member B 17353931,17567985,15489334,14702039,12477932,20595579 283742 NM_173611,NM_001042429,AC109631,AC116158,CH471125,AK095745,BC035600,BC093898,BP872410 NP_775882,NP_001035894,EAW92369,EAW92370,EAW92371,BAC04621,AAH93898,Q52LJ0 Hs.6799 FLJ38426 family with sequence similarity 98, member B protein-coding 1604231 FAM98C family with sequence similarity 98, member C 15489334,12477932 147965 NM_174905,AC005789,CH471126,AK128745,BC034383,BC036482,BC080606,BC100033,BC117258,BC143830,BC171747,BI871449,BM561971,BX641942 NP_777565,EAW56790,EAW56791,EAW56792,EAW56793,AAH80606,AAI17259,AAI43831,Q17RN3,ADR83359 Hs.355162 FLJ44669 hypothetical protein LOC147965 protein-coding 2303853 FAM99A family with sequence similarity 99, member A 387742 NR_026643,AP006285,AK124823,CR627417 BAC85960,CAH10505,Q6AI09 Hs.567908 DKFZp781M09150|FLJ42833 miscrna 2301772 FAM99B family with sequence similarity 99, member B 100132464 NR_026642,AP006285 DKFZp781M09150 miscrna 1348978 FAM9A family with sequence similarity 9, member A 1580863 15489334,12477932,12213195 171482 NM_174951,AC003685,CH471074,AF494343,BC112022,BC113449,BC143805,NG_016564,NM_001171186 NP_777611,EAW98760,EAW98761,AAN07162,AAI12023,AAI13450,AAI43806,Q8IZU1,NP_001164657,ADR83325 Hs.382062 MGC138227|MGC142009 family with sequence similarity 9, member A protein-coding 1345676 FAM9B family with sequence similarity 9, member B 1580863 18029348,15489334,14702039,12477932,12213195 171483 NM_205849,AC074281,CH471074,AF494344,AK097501,AK128470,BC120955,BC120956,CR612898 NP_995321,EAW98763,EAW98764,EAW98765,EAW98766,AAN07163,BAC05078,AAI20956,AAI20957,Q8IZU0,Q8N7Z8 Hs.371894 FLJ40182 OTTHUMP00000022876|family with sequence similarity 9, member B protein-coding 1345371 FAM9C family with sequence similarity 9, member C 1580863 16344560,15489334,12477932,12213195 171484 NM_174901,AC139705,CH471074,AF494345,AK313776,BC127957,BX647580,BX648111,BX648919,DB333543,DA958431,NG_021290 NP_777561,EAW98815,EAW98816,EAW98817,AAN07164,BAG36514,AAI27958,CAI46094,CAI46034,CAI46007,Q5HY97,Q8IZT9 Hs.667546 OTTHUMP00000022924|OTTHUMP00000196387|family with sequence similarity 9, member C protein-coding 1322810 FANCA Fanconi anemia, complementation group A The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq] 1580863,2317735 19714462,19913121,20628086,16474167,20585627,15367677,17474147,18457264,18550849,19170196,19491337,19625176,19690177,19692168,20347428,20453000,20496165,20800603,20425471,20864535,15262960,12571280,9398857,19237606,19109555,19064572,19015634,19012493,18950845,18676680,18270339,18224251,18056155,16946016,16116422,15917947,15860134,15790592,15591268,15502827,15489334,15256425,15138265,15059067,14749703,14630800,12724401,12637330,12477932,12444097,12384774,12354784,12239156,12210728,12031647,11855836,11726552,11344308,11157805,11091222,11063725,11050007,10936108,10936049,10807541,10521298,10468603,10210316,10094191,9929978,9789045,9742112,9721219,9711872,9399890,9382107,9371798,9169126,8896563,8755924,7581462,18285517,16189514,15082718,14697762,12973351,12649160,11918676,11739169,10961856,10652215,10627486,10567393,10468606,10373536,10551855,12093742,10600472,14499622,11401546 2317735 2175 NM_000135,NM_001018112,NG_011706,AC005360,AC005565,AC005567,AC092385,AF054569,AJ131189,AJ131190,AJ225084,AJ225085,AY598423,CH471184,Z83067,AK299282,AK301168,BC008979,BC022498,BC064540,BC120978,BC120979,BC127633,BC141971,BC141972,BT007366,CR601931,CR612784,X99226 NP_000126,NP_001018122,AAC28751,AAC33304,AAC33401,AAC28331,CAB46099,CAB46100,CAA12393,CAA12394,AAS99350,EAW66685,EAW66686,CAB05445,BAG61299,BAH13420,AAH08979,AAH64540,AAI20979,AAI20980,AAI27634,AAI41972,AAI41973,AAP36030,CAA67610,O15360,Q0VAP3,Q0VAP4,Q86U55,Q9Y4Z8,Q9Y4Z9,AAI56523,AAI72515 Hs.728214 FA|FA-H|FA1|FAA|FACA|FAH|FANCH|MGC75158 Fanconi anemia group A protein|Fanconi anemia, complementation group H|Fanconi anemia, type 1 protein-coding 1351449 FANCB Fanconi anemia, complementation group B The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq] 20332657,17396147,20347428,20465790,19536649,18302019,17903171,16679491,16116422,15611632,15502827,15489334,14702039,12477932,11601848,11307801,9480775,9382107,8609606,15342556 2187 NM_152633,NM_001018113,NG_007310,AC140846,CH471074,AK091383,BC043596,BC055411,BC136558,BC136560,BP236844 NP_689846,NP_001018123,EAW98861,EAW98862,EAW98863,BAC03650,AAH43596,AAH55411,AAI36559,AAI36561,Q8NB91 Hs.554740 FA2|FAAP90|FAAP95|FAB|FACB Fanconi anemia group B protein|Fanconi anemia-associated polypeptide of 95 kDa|OTTHUMP00000022952|fanconi anemia-associated polypeptide of 95 kDa|type 2 Fanconi pancytopenia protein-coding 735813 FANCC Fanconi anemia, complementation group C The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq] 1300316,1580863,1300359,1300317,2317238,2317239 19714462,19913121,20628086,19536649,19690177,20347428,20379614,20496165,20864535,11063725,10848598,10627486,10572087,10551855,10431244,10373536,9742112,9454773,9373149,9242535,8844212,8829660,8639804,8613549,8499901,8490620,8348157,8128956,8125298,8103176,8081385,8058745,7518843,7517562,7492758,1641028,1303234,15082718,12973351,12210728,15262960,12649160,12093742,14499622,17353931,11401546,11433346,9596688,1574115,9398857,19237606,19064572,18990233,18950845,18607065,18264947,17977515,17490643,16513431,16429406,16344560,16127171,16116422,15726604,15695377,15616572,15502827,15489334,15327776,15299030,15256425,15077170,14625294,12763929,12724401,12477932,12397061,12239156,11986317,11876000,11751423,11520787,11500375,11427142,11157805,20869034,20509860,20538911 1300316,1300359,1300317,2317238,2317239 2176 NG_011707,AL157384,AL354893,AY220878,CH471174,L02664,AK222871,AK304887,AK310599,AK312548,AU132608,BC006303,BC015748,BC041030,CB052780,X66893,X66894,NM_000136 NP_000127,CAH70885,CAH70886,CAI41328,CAI41329,CAI41330,AAO26042,EAW92626,EAW92627,EAW92628,EAW92629,AAA53104,BAG65624,AAH15748,CAA47347,CAA47348,Q00597,ABM86348,ABW03784 Hs.494529 FA3|FAC|FACC|FLJ14675 Fanconi anemia group C protein|bA80I15.1 (Fanconi anemia, complementation group C, protein) protein-coding 1343234 FANCD2 Fanconi anemia, complementation group D2 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863,1601137 19714462,20603015,12874027,19465922,19423727,19237606,19064572,19047177,19011769,18950845,18672388,18482162,18475298,18469862,18270339,18263878,18212739,18029388,17898070,17643815,17460694,17436244,17333336,16943440,16679306,16474167,16127171,16116422,15886296,15849361,15694335,15671039,15661754,15650050,15502827,15489334,15454491,15377654,15314022,15302935,15257300,15199141,15115758,14988723,14743216,14702039,14667412,14517836,12973351,12649160,12607005,12607003,12477932,12447395,12389351,12239151,12093742,12086603,12042798,11751423,11733219,11239454,11239453,10762542,7581463,14499622,12887909,20819778,20339950,18082604,19064571,19466639,19504183,19536092,19536649,19561358,19609304,19671671,19690177,19704162,19729998,19748364,19861535,20040763,20379614,20496165,20363922,20671156,20805509,20507282,20538911 1601137 2177 NM_001018115,NM_033084,NG_007311,AC034193,AF273251,CH471055,DQ341263,AF230336,AF340183,AK022613,AK074406,AK307512,AL832427,BC013582,BC038666,BU617044,BX956311 NP_001018125,NP_149075,AAK18772,AAK18773,EAW64055,EAW64056,EAW64057,EAW64058,ABC67466,AAL05980,AAK15369,BAB14132,CAH10647,AAH13582,Q9BXW9,AAI56800 Hs.208388 DKFZp762A223|FA-D2|FA4|FACD|FAD|FAD2|FANCD|FLJ23826 Fanconi anemia group D2 protein|OTTHUMP00000207925|type 4 Fanconi pancytopenia protein-coding 1354425 FANCE Fanconi anemia, complementation group E The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq] 1580863,1598924 19714462,18550849,19536649,19690177,20347428,20496165,20800603,12093742,11001585,19064572,18950845,17308347,17296736,16513431,16116422,15489334,14574404,12724401,12649160,12477932,12239156,11157805,10205272,9382107,9147877,7662964,18285517,15115758,15262960,12973351,15199141,16127171,15502827 1598924 2178 NM_021922,NG_011708,AL022721,CH471081,DQ020173,AF265210,AK292522,AK312617,BC046359,CR605350 NP_068741,CAD92504,EAX03830,AAY26395,AAG16743,BAF85211,AAH46359,Q9HB96 Hs.302003 FACE|FAE Fanconi anemia group E protein protein-coding 1345063 FANCF Fanconi anemia, complementation group F The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq] 2290045,2290044,2298507,2298508,1580863,1598925 9382107,9373149,8125298,12649160,12973351,16169070,18550849,19536649,19690177,19801548,20347428,20496165,11063725,19064572,18950845,18414472,17932744,17082180,16418574,16116422,15502827,15489334,15262960,15126331,15124103,14702039,14647419,12724401,12477932,12239156,12093742,11157805,10615118,16712791,16474167 2290045,2290044,2298507,2298508,1598925 2188 NM_022725,NG_007425,AC103801,AY928335,CH471064,AF181994,AF181995,AK001716,AK023153,AK223277,BC047028,BC063038,BC093867,BC101807,BI522448,BX640996,CB157038,CR603993 NP_073562,AAX09677,EAW68319,AAF26297,AAF26298,BAG50967,BAB14433,BAD96997,AAH47028,AAH63038,AAH93867,AAI01808,CAE45999,Q53FK7,Q6MZN0,Q9BSF3,Q9NPI8 Hs.713574 FAF|MGC126856 Fanconi anemia group F protein protein-coding 1350702 FANCG Fanconi anemia, complementation group G The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq] 1580863,1599879,2317238 19913121,20628086,11739169,10961856,10652215,10567393,10468606,15262960,14499622,11401546,15367677,18550849,19447967,19536092,19536649,19690177,19861517,20347428,20403997,20496165,16474167,9806548,17060495,9256465,19339270,19237606,19064572,18950845,18212739,17010390,16621732,16609022,16195237,16189514,16116422,15657175,15502827,15489334,15319283,15256425,15164053,15138265,15059067,12915460,12861027,12724401,12649160,12552564,12477932,12432219,12239156,12093742,11918676,11756225,11157805,11093276,11063725,11050007,10807541,10627486,10468603,10373536,9382107,15082718,14697762,12973351,20518486,12210728 1599879,2317238 2189 NM_004629,NG_007312,AC004472,AL353795,AY795970,CH471071,AJ007669,AK293427,AK311348,AK312987,BC000032,BC011623,BT009813,CR592637,U70310 NP_004620,AAC07981,CAH70994,AAV40841,EAW58401,EAW58402,CAA07602,BAG56932,BAG35824,AAH00032,AAH11623,AAP88815,AAB80802,O15287,Q53XM5,ABM83092,ABM86286 Hs.591084 FAG|XRCC9 DNA repair protein XRCC9|Fanconi anemia group G protein|X-ray repair complementing defective repair in Chinese hamster cells 9|X-ray repair, complementing defective, in Chinese hamster, 9 protein-coding 1605380 FANCI Fanconi anemia, complementation group I The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 19465922,19111657,18931676,17452773,17412408,16964243,15489334,15146197,14702039,14630800,12477932,11347906,20562859,17353931,17460694,20671156,15199141,17478428,18082604,19536649,19561358,19589784,19615732,19737859 55215 NM_018193,NG_011736,AC124068,CH471101,AB058697,AK001581,NM_001113378,AK027564,AK055176,BC004277,BC021859,BC140769,BC144483,BC146804,BM461935,BQ050477,BU187299,CN365698,CR602910,EF469766,EF567077 NP_001106849,NP_060663,EAX02039,EAX02040,EAX02041,EAX02042,EAX02043,EAX02044,BAB47423,BAA91770,BAB55200,BAG51480,AAH04277,AAI40770,AAI44484,ABP88002,ABQ63084,Q9NVI1,AAI66621 Hs.513126 FLJ10719|KIAA1794 Fanconi anemia group I protein protein-coding 1322885 FANCL Fanconi anemia, complementation group L The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18607065,18270339,17106252,16474167,16344560,16116422,15815621,15502827,15489334,14702039,12973351,12724401,12606378,12477932,12417526,9373149,8125298,18285517,12574169,15761153,17396147,18550849,19589784,19690177,19737859,20347428,20407210,20935630 55120 NM_001114636,NM_018062,NG_007418,AC007250,CH471053,AK001197,AK225147,AK297736,AK309671,AL036481,BC009042,BC037570,BC041627,BC054517,BQ574618,CR594145,CR597729,DB032206 NP_001108108,NP_060532,AAY15020,EAX00056,EAX00057,EAX00058,EAX00059,EAX00060,EAX00061,BAA91548,BAG60086,AAH09042,AAH54517,Q9NW38 FAAP43|FLJ10335|PHF9|POG E3 ubiquitin-protein ligase FANCL|OTTHUMP00000201191|OTTHUMP00000201194|PHD finger protein 9|fanconi anemia group L protein|fanconi anemia-associated polypeptide of 43 kDa protein-coding 1317358 FANCM Fanconi anemia, complementation group M The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. [provided by RefSeq] 19913121,20628086,19423727,19270156,18995830,18285517,18206976,18174376,16116434,16116422,15489334,14702039,12477932,10997877,20670894,17289582,19536649,19690177,19737859,20010692,20064461,20160754,20347428,20347429 57697 NM_020937,NG_007417,AL121809,CH471078,AB046816,AK001672,AK093422,AL833656,BC036056,BC140776,BC144511,BX500546,DQ140356 NP_065988,EAW65781,EAW65782,EAW65783,EAW65784,BAB13422,BAC04159,AAH36056,AAI40777,AAI44512,AAZ53290,Q8IYD8,AAI56491 Hs.509229 FAAP250|KIAA1596|MGC176453 ATP-dependent RNA helicase FANCM|Fanconi anemia group M protein|fanconi anemia-associated polypeptide of 250 kDa|protein Hef ortholog protein-coding 1312384 FANK1 fibronectin type III and ankyrin repeat domains 1 737633 19240061,18682798,17604233,15489334,14702039,12975309,12477932,20379614 737633 92565 NM_145235,AC063963,AL360176,CH471066,AK021437,AY251163,AY358154,BC024189,BQ225468,CR627249 NP_660278,EAW49211,EAW49212,EAW49213,EAW49214,AAP20060,AAQ88521,AAH24189,Q8TC84 Hs.352591 HSD13 1700007B22Rik|OTTHUMP00000020720|fibronectin type 3 and ankyrin repeat domains 1|fibronectin type 3 and ankyrin repeat domains protein 1 protein-coding 732069 FAP fibroblast activation protein, alpha The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. [provided by RefSeq] 1580863 7911242,9065413,9688278,9247085,18823010,18665076,18570153,18095711,18071670,16700525,16507127,16480718,16410248,16335952,16223769,16196122,16175601,16061874,15809306,15767544,15489334,14707457,14702039,14524536,12963128,12926053,12675244,12477932,12376466,12028401,12023964,10644713,7774951,16651416,19747910,19817894,20043068,20155839,20379614,7519584 2191 NM_004460,AC007750,CH471058,AF007822,AK055327,AK297118,AK309260,AK310293,AK315448,AL832166,BC026250,CR604386,CR606795,U09278,U76833,NG_027991 NP_004451,AAY24205,EAX11353,EAX11354,AAF21600,BAG59624,BAG37836,AAH26250,AAB49652,AAC51668,Q12884,ABM82349,ABM85523 Hs.654370 DKFZp686G13158|DPPIV|FAPA 170 kDa melanoma membrane-bound gelatinase|OTTHUMP00000207304|fibroblast activation protein|integral membrane serine protease|seprase protein-coding 1315381 FAR1 fatty acyl CoA reductase 1 737633 17353931,19027726,16396496,16344560,15489334,15220349,15220348,14702039,12975309,12477932,20071337,16756494 737633 84188 NM_032228,AC013828,AC026843,CH471064,AF086349,AK024967,AK026381,AK090880,AK315527,AL713674,AY358784,AY423606,AY600449,BC017377,BX648892,CR611981,CR936619,DA515509 NP_115604,EAW68491,EAW68492,EAW68493,BAB15467,BAG37908,AAQ89144,AAR84086,AAT42129,AAH17377,CAI56762,Q8WVX9,Q9H600 Hs.501991 DKFZp686A0370|DKFZp686P18247|FLJ22728|FLJ33561|MLSTD2|SDR10E1 fatty acyl-CoA reductase 1|male sterility domain containing 2|male sterility domain-containing protein 2|putative fatty acyl reductase|short chain dehydrogenase/reductase family 10E, member 1 protein-coding 1344680 FAR2 fatty acyl CoA reductase 2 737633 19027726,15489334,15220349,15220348,14702039,12477932,11230166,16756494,20379614 737633 55711 AC009318,NM_018099,AC012150,CH471094,AK001324,AK001927,AK027756,AK129857,AK314670,AL136843,BC022267,CR607516 NP_060569,EAW96586,EAW96587,BAA91625,BAA91983,BAB55347,BAG37227,CAB66777,AAH22267,Q96K12,Q9NUX8 Hs.298851 FLJ10462|MLSTD1|SDR10E2 fatty acyl-CoA reductase 2|male sterility domain containing 1|male sterility domain-containing protein 1|short chain dehydrogenase/reductase family 10E, member 2 protein-coding 1313320 FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) This gene was originally isolated through subtractive hybridization due to its increased expression in differentiated chondrocytes versus dedifferentiated chondrocytes. The resulting protein contains a predicted ezrin-like domain, a Dbl homology domain, and a pleckstrin homology domain. It is believed to be a member of the band 4.1 superfamily whose members link the cytoskeleton to the cell membrane. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 9425278,16381901,15489336,15489334,15057823,14702039,12477932,11076863,20708005,21116278,19475631,20171287,20379614 10160 NM_001001715,AL136300,AL137249,AL161896,AL445223,BX647479,CH471085,AB008430,AI273567,AI274149,AK095747,AK123565,BC041595,BC053593,BC065020,BC071592,BE463494,NM_005766 CAI15981,CAL38058,CAL38095,CAL38331,NP_005757,NP_001001715,CAI10952,CAI10953,CAI39451,CAI39454,CAI39458,CAI12946,EAX08982,BAA24267,AAH41595,AAH71592,Q5JV91,Q5JV94,Q9Y4F1 Hs.403917 CDEP|MGC87400|PLEKHC2 FERM, RhoGEF and pleckstrin domain-containing protein 1|PH domain-containing family C member 2|chondrocyte-derived ezrin-like protein|pleckstrin homology domain-containing family C member 2 protein-coding 1317522 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 1580863 12351724,15815621,15489334,15324660,12771149,12477932,9872452,9847074,14531806,20062064,20468071,20855867 9855 NM_014808,AC005104,AC110299,CH471063,AB018336,AK127510,AL122052,BC021301,BC036887,AK300435,AW014580,DB451463 NP_055623,AAY14682,EAW71262,EAW71263,BAA34513,CAB59185,AAH21301,O94887,BAH13284 Hs.726316 FIR|FRG|KIAA0793|PLEKHC3 FERM domain including RhoGEF|FERM, RhoGEF and pleckstrin domain-containing protein 2|FGD1-related Cdc42-GEF|PH domain-containing family C member 3|pleckstrin homology domain-containing family C member 3 protein-coding 1342814 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq] 20877624,10329163,18611382,17768348,15489334,15146197,14574404,12477932,11329013,9373149,8125298,19913121,20628086,19193993,19549855,19615732,19737557,20379614 10667 NM_006567,AL021328,AL022097,AL121978,AL133473,AL392184,AL590868,CH471087,AF097441,AF161438,AI338405,AK223423,AK312454,BC020239,BC021112,BE792999,BG212473,BI761156,CN292346,CR542279,CR591198,CR594172,CR599212,CR607114,CR608064,CR623404,CR626764 NP_006558,CAI19950,CAI21657,CAI19901,CAI20375,CAI39441,CAI39442,EAW55179,AAC83802,AAF28998,BAD97143,BAG35361,AAH20239,AAH21112,CAG47075,O95363,Q5JRF7 Hs.484547 FARS1|HSPC320|PheRS|dJ520B18.2 OTTHUMP00000015986|dJ236A3.1 (phenylalanine-tRNA synthetase)|dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase))|phenylalanine tRNA ligase 2, mitochondrial|phenylalanine translase|phenylalanine--tRNA ligase|phenylalanine-tRNA synthetase 1 (mitochondrial)|phenylalanine-tRNA synthetase 2 (mitochondrial)|phenylalanine-trna synthetase 2 (mitochondrial)|phenylalanyl-tRNA synthetase, mitochondrial protein-coding 1321146 FARSA phenylalanyl-tRNA synthetase, alpha subunit Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq] 1580863 16169070,18029348,19615732,9177188,19165527,15489334,15057824,14702039,12665801,12477932,11858721,10049785,11829477 2193 AC092069,AD000092,CH471106,AF042347,AK092093,AK130195,AK304587,BC006495,BC035438,BC043565,BG284015,BT007198,CR456740,CR591094,CR596139,CR597607,NM_004461,CR598884,CR603999,CR604250,CR605875,CR609864,CR610335,CR613272,CR613342,CR613659,CR613870,CR616038,CR616900,CR617025,CR617032,CR617949,D84471,U07424 NP_004452,AAB51175,EAW84328,EAW84329,AAD02221,BAG52481,BAG65375,AAH06495,AAH43565,AAP35862,CAG33021,BAA95666,AAB61694,Q6IBR2,Q9Y285,ABM81671,ABM84841 Hs.23111 CML33|FARSL|FARSLA|FRSA|PheHA pheRS|phenylalanine tRNA ligase 1, alpha, cytoplasmic|phenylalanine--tRNA ligase alpha chain|phenylalanine-tRNA synthetase alpha-subunit|phenylalanine-tRNA synthetase-like, alpha subunit|phenylalanine-trna synthetase-like, alpha subunit|phenylalanyl-tRNA synthetase alpha chain|phenylalanyl-tRNA synthetase-like, alpha subunit protein-coding 1348852 FARSB phenylalanyl-tRNA synthetase, beta subunit This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. [provided by RefSeq] 1580863 20223217,15000680,14980694,10049785,15635413,15489334,14702039,12962494,12477932,11858721,11042152,10375616,9177188,1741281,658405,20379614,20562859 10056 NM_005687,AC097461,AC104772,CH471063,AF042346,AF161521,AK001025,AK055289,AK291531,AK294158,BC006502,BC008434,BC011261,BC017783,BC022273,CR596774,CR603404,CR605981,CR608008,CR614902,CR619824,D84430,AK316497 NP_005678,AAX88958,AAX81986,EAW70802,EAW70803,EAW70804,AAD02220,AAF29136,BAF84220,BAG57481,AAH06502,AAH17783,BAA95608,Q9BR63,Q9NSD9,BAH14868 Hs.471452 FARSLB|FRSB|HSPC173|PheHB|PheRS phenylalanine tRNA ligase 1, beta, cytoplasmic|phenylalanine--tRNA ligase beta chain|phenylalanine-tRNA ligase beta chain|phenylalanine-tRNA synthetase-like, beta subunit|phenylalanine-trna synthetase-like, beta subunit|phenylalanyl-tRNA synthetase beta chain|phenylalanyl-tRNA synthetase beta-subunit|phenylalanyl-tRNA synthetase-like, beta subunit protein-coding 1346266 FAS Fas (TNF receptor superfamily, member 6) The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. At least eight alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq] 1626509,2290049,2290063,2290132,2290176,2290131,2289639,2290050,2290077,2290283,2290284,2290058,2290177,2290084,2290099,2290048,2290133,2290054,2290130,2290046,2290047,2290053,2290175,2290075,2315733,2311437,2315742,2315753,2315757,2298509,2314002,2312739,2314021,2315698,2315705,2315707,2315754,1600310,1600348,1600350,1600351,1600352,1600312,1600333,1600334,1600355,1600356,1600357,1600354,4143196 19037097,19019483,19019335,19015953,19012493,19009351,19004284,18972838,18949744,18949391,18948840,18923451,18854777,18851835,18844210,18818748,18813857,18804468,18796602,18787411,18757527,18754288,18753860,18685642,18676032,18666137,18635548,16358967,16343245,16313826,16306044,16304056,16273638,16255757,16215685,16215672,16169070,16163374,16158329,16157125,16148554,16143308,16129703,16091761,16087126,16081586,16018969,16000573,15996722,15975999,15968727,15967797,15963548,15962371,15937082,15929764,15917238,15911745,15907374,15894356,15860671,15855233,15838728,15833141,15816832,15808689,15806311,15803113,15795317,15786554,15748958,15726829,15723707,15704653,15695771,15688389,15680394,15672026,15670977,16364925,15645122,15641141,15637757,15632129,15617242,18614439,17938571,17932249,17912957,17912028,17909299,17891455,17878356,17853317,17762757,17724145,17708363,17704785,17704746,17692455,17684774,17667965,17657791,17657164,17622942,17603079,17598974,17597021,17589525,17564320,17561354,17559541,17545588,17544837,17516614,17504511,17493146,17487740,17485109,17465232,17406980,17376892,17336828,17219051,17203787,17198275,17195092,17194564,17183065,17174268,17161551,17159908,17159907,17135269,17130290,17062728,17056024,17053166,17014925,17014078,17009393,17006606,17000697,16987075,16972019,16948902,16937440,16936193,16921240,16917513,16914910,16899302,16895904,16822901,16820946,16808908,16788566,16765090,16741989,16723718,16691186,16643620,16538172,16538171,16515587,16507928,16474169,16473667,16472594,16469115,16441482,16438619,16436054,16403915,16393952,16368755,18609513,18588573,18582468,18561948,18552209,18548110,18512812,18508927,18508922,18505906,18494554,18488389,18483392,18473402,18463097,18445624,18441236,18439588,18427836,18422813,18411295,18383830,18361934,18342935,18337305,18328427,18324486,18316328,18302883,18292515,18268284,18243739,18234961,18227168,18217400,18208868,18174230,18162459,18090928,18078929,18078642,18068525,18057579,18056484,18045865,18003704,18000680,17997887,17993614,17982483,17978477,17970696,17962369,17962219,17941899,7536190,7538908,14644197,7510905,16507998,10875918,9360929,7533181,11101870,7530336,8521815,8681376,9721089,19653342,19615968,19573080,19565204,19542541,19538884,19538867,19527514,19487421,19480241,19391241,19336370,19332441,19305072,19298528,19293475,19272297,19266094,19262492,19240174,19225810,19219602,19168581,19161534,19155494,19146781,19141860,19141320,19125371,19118384,19112091,19103758,19076218,19073786,19047119,19043361,20658220,20951677,19798106,20396760,20396799,20505730,20187936,20620960,20205514,16750039,20558744,20438666,12867600,12855687,12855571,12824926,12803240,12794152,12788915,12783210,12770553,12757469,12742739,12742662,12724420,12717632,12710855,12706861,12699879,12698366,12679613,12646947,12629150,12623840,12604424,12587820,12586732,12583439,12581154,12557947,12516573,12515623,12515395,12513829,12507389,12497631,12485855,12482505,12482410,12477932,12466128,12455036,12452031,12419941,12415011,12414525,12397013,12393889,12393649,12393468,12388693,12324452,12270344,12244143,12234263,12221075,12220552,12207908,12207331,12198154,12196516,12188927,12185583,12177303,12169207,12163388,12150947,12140383,12139945,12137598,12131184,12107169,12098516,12096925,12096347,12067476,12064832,12060768,12060388,12049185,12040174,12037669,12034188,12032668,12021072,11994542,11986289,11975981,11965496,11961305,11949822,11941452,11920253,11909874,11895550,11891278,11867183,11864613,11861273,11857317,11836578,11830507,11824955,11809905,11790791,11788891,11786908,11786482,11782802,11779855,11771526,11733515,11692157,11606059,11550967,11483955,11436125,11418480,11193028,11129341,11101867,11048730,11048727,11036836,11034606,10978533,10871852,10713117,10709732,10706119,10671224,10630977,10620127,10542291,10535980,10506221,10340403,10235259,10200300,10090885,9971775,9927496,9857224,9847311,9835052,9821419,9787134,9751072,9740801,9727492,9427646,9325248,9322534,9268734,9267021,9257699,9228058,9223324,9215629,9159204,9126929,9079683,9045686,9039262,9028957,8940097,8929361,8906799,8864141,8648105,8626376,8598453,8524870,7575433,7543095,7540117,7539892,7538907,7536343,7529798,7514572,2787530,2469768,1713127,1385309,1385299,1375228,16524887,10072505,9226175,15936090,10799864,9247148,9002959,15972662,14739941,11208609,10625668,8780394,9475352,8976184,15818415,10505674,9263011,15843521,15858021,9920849,11298454,11323689,11177389,15659383,9082980,12887920,9560245,9208847,11112409,15944736,15665818,15383280,15829968,9028321,8967952,15592292,15563545,15557123,15556941,15556626,15542843,15514680,15502938,15500551,15497017,15492869,15489334,15480430,15467462,15465831,15459302,15390286,15365741,15345718,15301860,15297424,15289903,15287856,15280387,15277733,15251990,15240787,15238425,15220220,15218339,15215233,15214041,15207703,15203866,15183989,15161716,15160902,15159409,15159312,15138553,15078899,15055260,15054468,15042330,15039424,15019807,15016553,14991945,14981943,14977837,14967838,14759258,14745445,14739535,14739003,14736971,14724564,14719118,14719092,14714559,14698859,14676203,14672901,14668794,14647422,14644318,14644092,14638442,14637155,14625471,14625298,14625033,14594800,14585083,14573612,14557654,14534720,14533029,14530312,14514471,14512182,14506242,12963547,12952224,12923319,12907599,12883671,12880639,12874203,20470393,20553075,20618494,20393185,20842669,20936988,16463650,20352431,20534173,10918185,11003656,11495919,11877055,14694156,15938782,16385451,16736614,17916181,18088463,18679533,18718055,18844072,19010354,19020991,19067240,19077906,19170196,19173804,19181929,19241965,19263494,19458913,19509307,19521670,19561642,19572057,19625176,19628789,19669200,19680267,19692168,19692467,19698994,19716115,19718569,19723039,19726736,19737931,19751723,19758996,19759548,19773279,19788921,19789190,19810143,19811416,19817952,19890662,19895798,19911702,19926197,19927299,19937732,19940360,19941645,19950259,19954064,19966861,20052288,20064083,20074157,20101431,20106900,20137575,20164160,20181888,20204402,20219325,20222173,20237496,20359312,20360470,20378664,20380574,20385987,20394629,20408337,20416077,20438363,20453000,20501759,20547950,9681877,21041692,20737708,20666744,19766542,19913121,20572163,20628086,20813889,20140262,20568250,20800603,20802294,20819778,20822933,20876301,20953611,20959405,21048031,21049406,20694011 1626509,2290049,2290063,2290132,2290176,2290131,2289639,2290050,2290077,2290283,2290284,2290058,2290177,2290084,2290099,2290048,2290133,2290130,2290046,2290047,2290053,2290175,2290075,2315733,2311437,2315742,2315753,2315757,2298509,2314002,2312739,2314021,2315698,2315705,2315707,2315754,1600310,1600348,1600350,1600351,1600352,1600312,1600333,1600334,1600355,1600356,1600357,1600354,4143196 355 NM_000043,NM_152872,NM_152871,NG_009089,NR_028033,NR_028034,NR_028035,NR_028036,AF061978,AJ279011,AJ279012,AJ279013,AJ509179,AJ509180,AJ509181,AJ509182,AL157394,AY450925,CH471066,D31968,AB209361,AK290978,AK311164,AK311424,AK311499,AY495076,BC012479,CR450307,CR625848,FM246457,FM246458,FM246459,M67454,X63717,X83490,X83491,X83492,X83493,X89101,Z47993,Z47994,Z47995,Z66556,Z70519,Z70520 NP_000034,NP_690611,NP_690610,AAC16237,CAC35539,CAC35540,CAC35541,CAD48929,CAD48930,CAD48931,CAD48932,CAI13870,CAI13871,CAI13872,AAR08906,EAW50147,EAW50148,EAW50149,EAW50150,EAW50151,EAW50152,BAA20850,BAD92598,BAF83667,AAS76663,AAH12479,CAG29303,CAR92543,CAR92544,AAA63174,CAA45250,CAA61473,CAA88031,CAA88032,CAA88033,CAA94430,CAA94431,P25445,Q59FU8,Q5T9P3,Q6ICT6,Q8IUB6,Q8IUB7,Q9UEL0,Q9UET8,ABM85601 Hs.244139 ALPS1A|APO-1|APT1|CD95|FAS1|FASTM|TNFRSF6 APO-1 cell surface antigen|CD95 antigen|FASLG receptor|Fas AMA|Fas antigen|OTTHUMP00000217569|apo-1 antigen|apoptosis antigen 1|apoptosis-mediating surface antigen FAS|tumor necrosis factor receptor superfamily member 6|tumor necrosis factor receptor superfamily, member 6 protein-coding 2312692 FASAS FAS antisense RNA (non-protein coding) 15829500 100302740 AL157394,NR_028371 FAS-AS|FASAS|FLJ36021|SAF miscrna 1606342 FASLG Fas ligand (TNF superfamily, member 6) The protein encoded by this gene is the ligand for FAS. Both are transmembrane proteins. Interaction of FAS with this ligand is critical in triggering apoptosis of some types of cells such as lymphocytes. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). [provided by RefSeq] 2290134,2290054,2290076,2290172,2290175,2290051,2290052,2290063,2290077,2290049,2290053,2290132,2315733,2314021,2315742,2315705,2315751,2315753,2314002,2315748,2315750,2292498,2315744,2317744,2317739,2317743,2317742,2317747,2317746,2317745,2317741,4143196 16627752,16601838,16595663,16595635,16538172,16538171,16514159,16512757,16487513,16474169,16441482,16364925,16332972,16332967,16318909,16313826,16306044,16298578,16282344,16273638,16212902,16204241,16186185,16181301,16163374,16158329,16157266,16157125,16155003,16133992,16087126,16081306,16000573,15996722,15991293,15979995,15975999,15968727,15962391,15937082,15928037,15907374,15870181,15870081,15849828,15833141,15816832,15814666,15806311,15803113,15795317,15791651,15694838,15686714,15674374,15653751,15579659,15557763,15542843,15492869,15489334,15480896,15457562,15358139,15339846,15337758,15314293,15302589,15287856,15277733,15272306,15240787,15218339,15195700,15183989,15178561,15173177,15138553,15093732,15073283,15042330,15019279,14996347,14988839,14977837,14967838,14962292,14739535,14739407,14739003,14705811,14698859,14669310,14668794,14642527,14634098,14625471,14602201,14560009,14534535,14514471,12930319,12928375,12923319,12918731,12887920,12867600,12854132,12849704,12807917,12803240,12794109,12787425,12783210,12742739,12742662,12717632,12710855,12707034,12700199,12698366,12651606,12637505,12629150,12618758,12594300,12583439,12559631,12557947,12515623,12513781,12507389,12490654,12482505,12482410,12477932,12464266,12454289,12421989,12414956,12414525,12393889,12372468,12220636,12208869,12161534,12137598,12113885,12100038,12023017,12021310,12021072,12009596,11994542,11994433,11965496,11961305,11925103,11909874,11908702,11895550,11882326,11856352,11845233,11830480,11809905,11801650,11788891,11786482,11751256,11741599,11739488,11716959,11606059,11559749,11500835,11438180,11276204,11036836,11013215,10671224,10630977,10318773,9971775,9872321,9427603,9405425,9261095,9228058,9215629,9126929,9022072,8910274,8906799,8787672,7980502,7589480,7566174,7539892,7528780,7505205,10072505,18050226,18045865,18000680,17997887,17966039,17962219,17961631,17943461,17941899,17938571,17912957,17853317,17823283,17762757,17727731,17704746,17704118,17703232,17688234,17667919,17654480,17605793,17598974,17564320,17559541,17557115,17545588,17491259,17465232,17381722,17290285,17198275,17183065,17173971,17164290,17136494,17123604,17123522,17118988,17101499,17071607,17056762,17053166,17014925,17008914,17000697,16990614,16987075,16972019,16902496,16868256,16858424,16808908,16770006,16767155,16710414,16691186,20406899,20150914,20572163,20101459,20618494,14644197,7826947,11048727,11101870,12761501,7530336,7536190,8521815,8681376,9721089,19614955,19573080,19565204,19542541,19538867,19535642,19527514,19403301,19390575,19337311,19332441,19305072,19266094,19244619,19240174,19219602,19183163,19176318,19155494,19146781,19141860,19124506,19079288,19052714,19041431,19019335,19015953,19009351,18854777,18835034,18818748,18813857,18789888,18757527,18676680,18666137,18577653,18567840,18561948,18548110,18541195,18509086,18505906,18501631,18483392,18473402,18427836,18422813,18392917,18383830,18374107,18361934,18359029,18324486,18316328,18314443,18302883,18292515,18217400,18174230,18162459,18078642,18076022,18069935,18068525,18057579,9226175,11208609,10799864,9475352,15936090,9801169,9672636,9247148,9002959,15843521,12884192,10224289,15858021,15078178,9920849,15659383,20393600,14749367,15938782,16498403,16736614,17916181,18293083,18844072,19010354,19170196,19181929,19434529,19458913,19505222,19531476,19572057,19625176,19628789,19641134,19649704,19692168,19773279,19779494,19789190,19807924,19810143,19854829,19890662,19926197,19937732,19941645,19960225,20074157,20106900,20165911,20190752,20204402,20219325,20222173,20237496,20359312,20371612,20378615,20379614,20385987,20394629,20408337,20438363,20501759,20675370,20842669,20533543,19364818,20013612,20379197,20602615,20624652,20650551,20568250,20959405 2290134,2290076,2290172,2290175,2290051,2290052,2290063,2290077,2290049,2290053,2290132,2315733,2314021,2315742,2315705,2315751,2315753,2314002,2315748,2315750,2292498,2315744,2317744,2317739,2317743,2317742,2317747,2317746,2317745,2317741,4143196 356 NM_000639,NG_007269,AB013303,CH471067,EF064739,Z96050,AF288573,AK314874,AY225406,AY858799,BC017502,D38122,U08137,U11821,X89102,HI179174,GN083421 NP_000630,BAA32542,EAW90935,EAW90936,ABK41922,CAB09424,AAG60017,BAG37389,AAO43991,AAX49569,AAH17502,BAA07320,AAC50071,AAC50124,CAA61474,P48023,Q0VHD7,Q53ZZ1,ABM84392,ABM87146,CBX53895,CAX86839 Hs.2007 APT1LG1|CD178|CD95-L|CD95L|FASL|TNFSF6 APTL|CD95 ligand|apoptosis (APO-1) antigen ligand 1|apoptosis antigen ligand|fas antigen ligand|tumor necrosis factor (ligand) superfamily, member 6|tumor necrosis factor ligand superfamily member 6 protein-coding 1347691 FASN fatty acid synthase The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq] 1580863,2317317,2317204,2317309 19913121,20356977,20602615,20628086,20679621,7567999,17220478,18029348,12815048,19467222,19358283,19318631,19300427,19252981,19032940,19027726,18955444,18838960,18830996,18820672,18802406,18796435,18682509,18682402,18660489,18635971,18528705,18420801,18410580,18281512,18281474,18239060,18211286,17847090,17687193,17662476,17631500,17618296,17618104,17492427,17188392,17081983,17081065,16964243,16894240,16806233,16644689,16582625,16215233,16175090,15897909,15669079,15523670,15507492,15489334,15302935,15254710,15235125,15220220,15113941,15047835,14689581,12939396,12882974,12839976,12646257,12531699,12515624,12477932,12213084,12060737,11790787,11756679,11248039,11034606,11018265,10769045,9356448,8986532,8662758,8022791,7835891,7595075,2669958,1044453,600212,16189514,18022563,19083124,19471962,19517019,19543203,19621387,19728851,19851294,19876008,19885560,19893031,20067991,20126469,20132826,15050917,17488603,20606731,20299470,20228782,12689621,18455495,20511185,20546348,8944226,20691427,20877624,20965718 2317317,2317204,2317309 2194 NM_004104,AC135056,CH471099,U52428,AB209988,AY451392,BC007267,BC007305,BC007909,BC014631,BC014634,BC021544,BC063242,CR599966,S80437,U26644,U29344 NP_004095,EAW89745,AAC50536,BAE06070,AAS09886,AAH07267,AAH07909,AAH14631,AAH14634,AAH63242,AAB35516,AAC50259,AAA73576,P49327,Q13587,Q6PJJ3 Hs.83190 FAS|MGC14367|MGC15706|OA-519|SDR27X1 fatty acid synthase|short chain dehydrogenase/reductase family 27X, member 1 protein-coding 1605699 FASTK Fas-activated serine/threonine kinase The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq] 20363972,17474147,7544399,19058789,17592127,17135269,16341674,16189514,15572676,15489334,15110758,14702039,12690205,12477932,9373149,8889548,8125298,7757816,20877624 10922 NM_033015,NM_006712,AACC02000108,AC010973,CH471173,AB209783,AK023141,AK223132,AK292232,AL713798,BC000377,BC006386,BC011770,BC039026,BM799420,BU682096,CR590845,CR595036,CR596093,CR596954,CR597531,CR611266,CR617191,CR620199,CR623465,CR623848,F02420,X86779 NP_148936,NP_006703,EAL24499,EAL24500,EAW54033,EAW54034,EAW54035,EAW54036,EAW54037,EAW54038,EAW54039,EAW54040,EAW54041,EAW54042,EAW54043,BAD93020,BAB14425,BAD96852,BAF84921,CAH10616,AAH00377,AAH11770,AAH39026,CAA60448,Q14296,Q53FZ9,Q59EM8,Q69YS8,Q8IVA0,Q9BWD7,Q9H918,ABM83848,ABM87170,ABW03532 Hs.647094 FAST FAST kinase|OTTHUMP00000213278|OTTHUMP00000213305|fas-activated serine/threonine kinase protein-coding 1606223 FASTKD1 FAST kinase domains 1 16344560,14702039,12477932,11347906,9373149,8889548 79675 NM_024622,AC093899,CH471058,AB058703,AK025554,AK055892,AK074302,AK130797,AK225293,AL832058,BC017950,BC032687,BC035241,BM675885,CR595728,DA920754 NP_078898,AAY24118,EAX11271,EAX11272,EAX11273,EAX11274,BAB47429,BAB15168,BAB71037,BAB85043,AAH17950,AAH32687,Q05D57,Q53R41 Hs.529276 FLJ21901|KIAA1800 FAST kinase domain-containing protein 1|OTTHUMP00000207008|OTTHUMP00000207010 protein-coding 1317335 FASTKD2 FAST kinase domains 2 This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq] 1580863 18771761,16344560,15815621,15489334,14702039,12477932,10931946,10231032,20966902,20877624 22868 NM_014929,NM_001136193,NM_001136194,NG_008984,AC008269,CH471063,AB023188,AF223470,AK001315,AK001516,AK021557,AL833877,BC001544,CR608462,DA021045,DA475994,DA756417,AK127714 NP_055744,NP_001129665,NP_001129666,AAX93275,EAW70394,EAW70395,EAW70396,EAW70397,EAW70398,BAA76815,AAF64145,BAA91617,BAG50930,CAD38734,AAH01544,Q9NYY8,ACE87262 Hs.5930,Hs.722628 KIAA0971 FAST kinase domain-containing protein 2 protein-coding 1604298 FASTKD3 FAST kinase domains 3 19913121,20628086,15342556,12477932,20869947,16344560 79072 BP317791,NR_036553,NM_024091,AC010346,CH471102,AF161354,AK026927,BC001295,BC113563,BC143517,BC143518,BQ921348,DA297400 NP_076996,EAX08094,EAX08095,AAF28914,AAH01295,AAI13564,Q14CZ7,Q9P0E5,ADR83087 Hs.653162 FLJ23274|MGC142123|MGC5297 FAST kinase domain-containing protein 3 protein-coding 1602469 FASTKD5 FAST kinase domains 5 16189514,14702039,12477932,11347906 60493 NM_021826,AL121891,CH471133,AB058695,AK023211,AK027215,AW182833,BC007413,BC011856,CR593540,AK301748 NP_068598,CAC32460,EAX10548,BAB47421,BAB14464,BAB15696,AAH07413,AAH11856,Q7L8L6,ACE87117,BAG63210 Hs.654646 FLJ13149|FLJ58294|dJ1187M17.5 FAST kinase domain-containing protein 5 protein-coding 732531 FAT1 FAT tumor suppressor homolog 1 (Drosophila) This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq] 1580863 8586420,19328558,19126244,17938632,17895925,17500054,17325662,17081983,16979624,16402135,15922730,15744052,15342556,15146197,12477932,10737800,9199196,9182820,8889548,15148305,19893579 2195 NM_005245,AC107050,AC110761,CH471056,BC012432,BF327563,BP363658,BU729008,CD642620,CN289962,CR598584,D88798,X87241 NP_005236,EAX04614,EAX04615,EAX04616,BAA21568,CAA60685,Q14517,Q9UEJ6 Hs.481371 CDHF7|CDHR8|FAT|ME5|hFat1 FAT tumor suppressor 1|cadherin ME5|cadherin family member 7|cadherin-related family member 8|cadherin-related tumor suppressor homolog|protein fat homolog|protocadherin Fat 1 protein-coding 1345655 FAT1P1 FAT tumor suppressor homolog 1 (Drosophila) pseudogene 1 170513 NG_001036,AL050403 dJ697P8.1 pseudo 732170 FAT2 FAT tumor suppressor homolog 2 (Drosophila) This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq] 68762,1580863 12477932,10835267,10716726,10380929,9693030,17900869,16335952,15491607 68762 2196 NM_001447,AC011337,AC011374,AC034205,CH471062,AB011535,AB160984,AB177851,AF231022,AK308619,AL157443,BC039143 NP_001438,EAW61673,BAA32463,BAD08246,BAD66829,AAF61928,CAB75663,AAH39143,Q5W9G8,Q6PIA2,Q75QY0,Q9NYQ8 Hs.591255 CDHF8|CDHR9|HFAT2|MEGF1 cadherin family member 8|cadherin-related family member 9|multiple EGF-like domains protein 1|multiple epidermal growth factor-like domains 1|multiple epidermal growth factor-like domains protein 1|protocadherin FAT2|protocadherin Fat 2 protein-coding 1351260 FAT3 FAT tumor suppressor homolog 3 (Drosophila) 625453,1580863 15744052,15146197,14702039,12477932,11811999,20379614 625453 120114 NM_001008781,AP000722,AP000805,AP002514,AP003171,AP003718,AB076400,AK091570,AK126620,AK127104,BC016722,CN295176 NP_001008781,BAB86868,AAH16722,Q8TDW7 Hs.98523 CDHF15|CDHR10|KIAA1989 cadherin family member 15|cadherin-related family member 10|hFat3|protocadherin Fat 3 protein-coding 1342504 FAT4 FAT tumor suppressor homolog 4 (Drosophila) 19048595,16865240,16713569,15345747,15003449,14702039,19734545,20351715,20379614 79633 NM_024582,AC079835,AC092629,AC098865,CH471056,AB075518,AK026709,AK091292,AK096646,AK291461,AL713715,AY356402,CR610468,DT932755,DT932756 NP_078858,EAX05203,BAE45762,BAB15534,BAG52326,BAG53346,BAF84150,CAD28510,AAR13653,Q6V0I7 Hs.563205 CDHF14|CDHR11|FAT-J|FATJ|FLJ23056|FLJ77878|NBLA00548 cadherin family member 14|cadherin-related family member 11|fat-like cadherin FATJ|fat-like cadherin protein FAT-J|hFat4|protocadherin Fat 4|putative protein product of Nbla00548 protein-coding 1353364 FATE1 fetal and adult testis expressed 1 737633,1580863 11256614,16713569,16381901,16189514,15489336,15489334,14702039,12811541,12477932,11694338,11134355,11076863,12865919,15580283,17761949 737633 89885 NM_033085,AF002992,CH471169,AF249872,AY101182,BC022064,CR624422,NG_016398 NP_149076,EAW99408,AAK69024,AAM48744,AAH22064,Q969F0,CAL38375,ABM83344,ABM86558 Hs.301960 CT43|FATE BJ-HCC-2 antigen|cancer/testis antigen 43|fetal and adult testis expressed transcript protein|fetal and adult testis-expressed transcript protein|tumor antigen BJ-HCC-2 protein-coding 1351680 FAU Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq] 12588972,8706699,15635413,15543234,15489334,15342556,14702039,12660817,12477932,9582194,8722009,8406491,7821789,1326960,16169070,19671159,19830698,8395683,15883184,15189156 2197 AA449261,BC051834,BU602831,NM_001997,AP003068,AY398663,CH471076,X65921,AK026639,BC033877,BP296770,CR541974,CR608084,CR619116,D28403,X65923 NP_001988,AAQ87877,EAW74353,CAA46714,BAB15515,AAH33877,CAG46772,BAA05769,CAA46716,P35544,P62861,Q9P1M0,ABM83335,ABM86548 Hs.387208 FAU1|FLJ22986|Fub1|Fubi|MNSFbeta|RPS30|asr1 40S ribosomal protein S30|FAU-encoded ubiquitin-like protein|FBR-MuSV-associated ubiquitously expressed|Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived)|monoclonal nonspecific suppressor factor beta|ribosomal protein S30|ubiquitin-like protein fubi and ribosomal protein S30|ubiquitin-like-S30 fusion protein protein-coding 1346617 FAUNA@ FAU neighboring area cluster 9286704 2198 1342760 FAUP1 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 1 19123937,7642109 140623 NG_001306,AC008021,U02523 FAU1P|RPS30_2_1613 pseudo 2305065 FAUP2 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 2 19123937 100271125 NG_010095,AC083904 RPS30_1_440 pseudo 2305064 FAUP3 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 3 19123937 100271126 NG_010102,AC108073 RPS30_1_539 pseudo 1321696 FBF1 Fas (TNFRSF6) binding factor 1 737633 18838552,14702039,12477932,11347906,10978533,16169070,16189514 737633 85302 NM_001080542,AC087289,CH471099,AB354594,AK057261,AK074045,BC007570,BC012332,BC023549 NP_001074011,EAW89342,BAG71501,BAB71400,BAB84871,AAH07570,AAH12332,AAH23549,Q8IZ48,Q8TES7 Hs.720068 Alb|FBF-1|FLJ00103|FLJ13996|KIAA1863 Fas binding protein 1|albatross|fas-binding factor 1 protein-coding 1313628 FBL fibrillarin This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq] 1580863 19913121,20628086,1846968,17353931,15494374,17158916,19331828,18292223,17603021,17461797,15635413,15489334,15057824,15009096,14743216,14583623,12490167,12477932,12388758,12373336,12244096,11960984,11835310,11790298,11739535,11509230,10837141,10648622,10518318,9548374,8670859,7626687,2414294,2026646,1731817,1714385,15574333,16169070,9654073,16687569,17498821,17636026,17643375 2091 BG831506,BT006830,BT020144,CR457069,CR592096,CR593763,CR608183,CR611406,CR619306,CR619571,CR621210,CR622112,CR624544,CR626204,M59849,X56597,NM_001436,AC005393,AC006950,CH471126,AB451384,AI085380,AK296950,AK308649,BC015218,BC019260,BC019609 AAH19609,AAP35476,AAV38946,CAG33350,AAA52453,CAA39935,P22087,Q96BS4,ABM83240,ABM86443,NP_001427,AAC28913,AAD15623,EAW56925,BAG70198,BAG59496,AAH15218,AAH19260 Hs.299002 FIB|FLRN|RNU3IP1 34 kDa nucleolar scleroderma antigen|34-kD nucleolar scleroderma antigen|RNA, U3 small nucleolar interacting protein 1|rRNA 2'-O-methyltransferase fibrillarin protein-coding 1606792 FBLIM1 filamin binding LIM protein 1 This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 19833732,18029348,19074766,18829455,18528435,17711449,16710414,16531412,16341674,15701922,15671069,15489334,15146197,14757752,14702039,12679033,12496242,12477932 54751 NM_001024215,NM_001024216,AL450998,CH471167,AF459643,AK027444,AK055259,AL133035,AY180161,BC019895,NM_017556,BM855570,CN278745,CR604326 NP_060026,NP_001019386,NP_001019387,CAH70851,CAH70852,CAH70853,CAH70854,EAW51750,EAW51751,EAW51752,AAO15549,BAB55115,BAG51492,CAB61365,AAO49012,AAH19895,Q5VVD3,Q5VVD6,Q8WUP2,ABM82656,ABM85833 Hs.530101 CAL|DKFZp434G171|FBLP-1|FBLP1|RP11-169K16.5 CSX-associated LIM|MIG2-interacting protein|OTTHUMP00000003118|OTTHUMP00000003120|filamin-binding LIM protein 1|filamin-binding LIM protein-1|migfilin|mitogen-inducible 2 interacting protein|mitogen-inducible 2-interacting protein protein-coding 2303694 FBLL1 fibrillarin-like 1 345630 NR_024356,AC020894,CH471062,BX115749,CK906195,DB496895 EAW61506,A6NHQ2 Hs.166262 pseudo 1318572 FBLN1 fibulin 1 Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq] 1598727,1580863 2269669,17353931,18029348,14718574,19109427,18985039,18222970,17062666,16713569,16571622,16303743,16061471,15774544,15528301,15498874,15489334,15231748,14702039,14691454,14635206,12912698,12644824,12477932,12200142,12122015,11850827,11846885,11836357,11829738,11792823,11238726,10591208,10544250,10400671,10318851,10037144,9927660,9811350,9466671,9393974,9299350,9278415,9106159,8839849,8737292,8552629,8354280,8175920,7842734,7806231,7642629,7534784,7500359,2527614,1400330,15990087,16169070,19609566,19693531,20098615,20379614,20405022,8889548,20716560 1598727 2192 X53743,Z98047,AF126110,AF217999,AI092723,AK075460,AK075566,AK095988,AK300806,AK316291,BC022497,BX403501,BX424750,BX443677,CR590049,CR594760,CR596373,CR597149,NM_006486,NM_006485,NM_001996,CR598802,CR599469,CR599841,CR601275,CR601756,CR604366,CR604377,CR604648,CR607226,CR609301,CR609828,CR610678,CR610952,CR611352,CR611927,CR612690,CR613154,CR613698,CR615032,CR615176,CR615869,CR619363,CR620925,CR621956,CR622932,CR623286,CR623480,CR623559,CR624387,CR625210,CR625455,CR625554,CR625681,CR626208,U01244,X53741,X53742,CR597928,NM_006487,AL021391,AY040589,CH471138,CS161042,CS161044,CS161046,CS161048,CS208047,Z95331,NG_023308,CB852401,HB867232 CAA37771,CAA37772,P23142,Q8NBH6,ABM84973,CAQ08435,CAQ08436,CAI19628,CAQ10147,CAQ10148,CAQ10149,CAQ10150,CAQ10151,CAQ10152,CAQ10153,CAQ10154,CAQ10155,CAQ10156,AAK37822,AAG17241,BAC11705,BAG62463,BAH14662,AAH22497,CAQ08434,NP_006477,NP_006476,NP_001987,AAB17099,CAA37770,NP_006478,AAK82945,EAW73385,EAW73386,EAW73387,EAW73388,EAW73389,EAW73390,CAJ30871,CAJ30872,CAJ30873,CAJ30874,CAJ44949,CAI41717,CBF57602 Hs.24601,Hs.593123 FBLN|FIBL1 fibulin-1 protein-coding 1345931 FBLN2 fibulin 2 This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 7806230,16713569,14702039,12618961,12477932,11847210,11733994,11531782,11493006,11038354,10934193,10848816,10544250,9887386,9886271,9431988,9214621,9006922,8946175,8737292,8702639,8245130,7500359,19609566,19834535,20083228,20201926 2199 NM_001165035,NM_001004019,NM_001998,AC090509,AY130458,CH471055,FJ695211,AK129883,AK300913,AK304777,AK304827,AL050095,AL080171,AY130459,BC051690,CB959783,CR624008,X82494 NP_001158507,NP_001004019,NP_001989,AAN05435,EAW64170,EAW64171,BAH13375,BAH14254,BAH14261,CAB43267,AAN05436,AAH51690,CAA57876,P98095,Q86V58,Q8IUI0,Q8IUI1,Q9Y3V7 Hs.198862 FIBL-2|fibulin-2 protein-coding 736145 FBLN5 fibulin 5 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq] 1300360,69830,1580863,1300318 20546612,16837650,16713569,16691202,16374472,16344560,16303743,16153447,15528465,15489334,15342556,15269314,14745449,12975309,12618961,12477932,12189163,12111551,11805835,11805834,11549288,10640802,10428823,18029348,19251763,19194475,19167375,19015224,18989607,18391951,18341572,18222970,18185537,17581631,17472576,17371835,17255108,17035250,16904068,20599547,19450918,19570982,19617354,19948975,20007835,20201926,20379614,20599731 1300360,69830,1300318 10516 NM_006329,NG_008254,AL049872,AL590328,CH471061,CQ783216,CS161058,AA812956,AF093118,AF112152,AJ133490,AK074540,AK075147,AK307592,AL110148,AL546863,AY358898,BC022280,BP338841,BX248290,CR457140,CR597682,CR598006,CR604352,CR615971,DB263961 NP_006320,EAW81465,EAW81466,EAW81467,CAF86416,CAJ30879,AAC62107,AAD41768,CAB38568,BAG51970,BAG52073,AAQ89257,AAH22280,CAD62618,CAG33421,Q6IAL4,Q86TV4,Q9UBX5 Hs.727533 ARMD3|DANCE|EVEC|FIBL-5|FLJ90059|UP50 developmental arteries and neural crest EGF-like protein|developmental arteries and neural crest epidermal growth factor-like|fibulin-5|urine p50 protein protein-coding 1601826 FBLN7 fibulin 7 19229767,17699513,16344560,14702039,12477932 129804 NM_153214,NM_001128165,AC092645,CH471245,AK094759,AK124067,BC035784,BC038242,BC126986,BC126987,CR620397,CR933697,DA201691 NP_694946,NP_001121637,AAY14854,EAW52100,EAW52101,EAW52102,BAC04416,BAG53997,AAH35784,AAH38242,AAI26987,AAI26988,CAI46168,Q53RD9,Q8IY13 Hs.437696 DKFZp547D0610|FLJ37440|TM14 FIBL-7|OTTHUMP00000203580|OTTHUMP00000203584|fibulin-7 protein-coding 731577 FBN1 fibrillin 1 This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq] 1580378,1580379,1580380,1601144,1601145,1300362,1300363,1300361,1300319,1580863 19913121,20375004,20628086,20709720,1301946,19941982,20455198,20803651,7691719,8188302,3536967,10931876,15165854,15781745,1860873,19639654,19533785,19430350,19396033,19390640,19361604,19353630,19328768,19293843,19182256,19167375,19161152,19159394,19117906,19059503,19037100,19002209,18805282,18795226,18669635,18615205,18471089,18448684,18435798,18412115,18339631,18310266,18278837,18084245,18079676,18062611,18006876,17996480,17984934,17903305,17701892,17680538,17679947,17663468,17657824,17627385,17568394,17492313,17418587,17324963,17293099,17285469,17255108,17253931,17242066,17209430,17158881,17158461,17030689,17024364,16971892,16905551,16880403,16835936,16802364,16765689,16677079,16617303,16540720,16528372,16467653,16222657,16220557,16103519,16096271,16042404,15980072,15861007,15776436,15713466,15657057,15654955,15649891,15569675,15371449,15254584,15241795,15161620,15131124,15054843,14730633,14695540,14613297,14586646,12946356,12918850,12915484,12807887,12695261,12651868,12590922,12575662,12525539,12524050,12511552,12477932,12429739,12429738,12399449,12384286,12203992,12203987,12130535,12122015,11933199,11923248,11854120,11829507,11826022,11748851,11726670,11700157,11524736,11481325,11315929,11108952,10825173,10793130,10694921,10633129,10547375,10504303,10441597,10425041,10359653,10085138,10036187,9886271,9837823,9401003,9362480,9338588,9338581,9254848,9150726,9016526,8988160,8914744,8882780,8863159,8702639,8653794,8594563,8568869,8563763,8504310,8430317,8406497,8364578,8281141,8136837,8071963,8040326,8004112,7977366,7870075,7762551,7738200,7611299,1852208,1852207,1852206,15221638,15161917,1769651,1569206,20564469,20686071,20729124,19119630,19358237,19570982,19573590,19578796,19618372,19725129,19802897,19863550,19889633,19996017,20082464,20085885,20199707,20360993,20379614,20451256,20537417,20547088,20478419 1580378,1580379,1580380,1601144,1601145,1300362,1300363,1300361,1300319 2200 GU143398,NM_000138,NG_008805,AB177801,AB177802,AB177803,AC022467,AC084757,AC084758,CH471082,S54426,AB208840,AK304737,AK309616,BC094721,BC146854,L13923,W81203,X62008,X63556 ACZ58372,NP_000129,BAD16737,BAD16738,BAD16739,EAW77353,EAW77354,AAB25244,BAD92077,BAG65498,AAI46855,AAB02036,CAB56534,CAA45118,P35555,Q59HB9,Q75N88,Q75N89,Q9NP01 Hs.591133 FBN|MASS|MFS1|OCTD|SGS|SSKS|WMS fibrillin 15|fibrillin-1 2289561 BW440_H protein-coding 733428 FBN2 fibrillin 2 The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq] 1300320,1300364,1580863 19913121,20628086,8120105,7493032,19506372,19473076,19288010,19006240,18006876,17255108,16835936,15146197,15131124,12750963,12590922,12524050,12477932,12429739,12399449,12180907,12122015,11754102,10870517,10825173,10797416,10737800,10504303,10359653,9737771,8900230,7744963,1852206,20404337,12429738,15044481,15231748,19469909,19553259,20195245,20201926 1300320,1300364 2201 NM_001999,NG_008750,AC025169,AC034235,AC113387,CH471062,AB209735,AF193046,AK300440,BC040623,BF368029,BG009811,BX343658,CD243435,CN300888,CN300893,CN300894,CN300904,CN481490,CR611529,CR612828,U03272,X62009 NP_001990,EAW62388,EAW62389,EAW62390,EAW62391,BAD92972,AAG22474,BAG62163,AAA18950,CAB56757,P35556,Q8WYH1,ACX32323 Hs.519294 CCA|DA9 OTTHUMP00000223149|fibrillin 5|fibrillin-2 protein-coding 1350241 FBN3 fibrillin 3 This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several transcript variants may exist for this gene, their full-length natures have not been described to date. [provided by RefSeq] 1580863 19692420,20200332,19192405,17785364,15221638,15203218,15146197,14962672,14702039,11941487,11347906,20855553,20630504 84467 AK096539,AK131282,AY165863,AY165864,AY165865,BC153882,CD634017,CN369190,NM_032447,AB177797,AK000036,AK074501,AK095563,AB177799,AB177800,AC008946,AC022146,CH471139,AB053450,AI341180,AB177798 BAG53318,BAD18457,AAO18145,AAO18146,AAO18147,AAI53883,Q6ZNB8,Q75N90,NP_115823,BAD16733,BAG53085,BAD16734,BAD16735,BAD16736,EAW68946,EAW68947,EAW68948,BAB47408 Hs.370362 KIAA1776 fibrillin-3 protein-coding 735552 FBP1 fructose-1,6-bisphosphatase 1 Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq] 2302970,2301230,2302851,1601165,1580863,1300048 9382095,8387495,16169070,7558035,18029348,18978678,18780768,18660489,18460190,18375435,16344560,16189514,15965961,15489334,15164053,12507293,12477932,10222032,9380240,9373149,8530070,8382525,8135811,8125298,7809062,7589895,2842796,2164670,1846613,9282826,7763253,19259699,16275660,19505453,19626708,19881551 2302970,2301230,2302851,1601165 2203 NM_001127628,NM_000507,NG_008174,AL161728,AY866483,CH471174,U21925,U21931,AF073475,AK223395,AK292199,AK316583,AY544122,BC012927,D26054,D26055,D26056,DA962803,L10320,M19922,U47918,U47919,HB907234,HB964552,HC964643,HD021962 NP_001121100,NP_000498,CAH72692,CAH72693,AAW34363,EAW92617,AAC50207,AAC25774,BAD97115,BAF84888,BAG38171,AAT11153,AAH12927,BAA05051,BAA05052,BAA05053,AAA35817,AAA35517,AAA89097,AAA89098,P09467,Q2TU34,Q5VZC3,CBF86692,CBG16870,CBV02277,CBV30316 Hs.494496 FBP D-fructose-1,6-bisphosphate 1-phosphohydrolase 1|FBPase 1|fructose-1,6- biphosphatase 1|fructose-1,6-bisphosphatase 1|fructose-bisphosphatase 1|growth-inhibiting protein 17 protein-coding 732425 FBP2 fructose-1,6-bisphosphatase 2 This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq] 2302851,2302970,1580863 9678974,18214967,16213487,15489334,15164053,12477932,10773464,9282826,16169070,19893584,20800603 2302851,2302970 8789 NM_003837,AJ238481,AJ238482,AJ238483,AJ238490,AL161728,CH471174,BC113632,BC117477,CR536483,Y10812 ADR83143,NP_003828,CAB58560,CAB58561,CAB53359,CAB53366,CAH72694,EAW92616,AAI13633,AAI17478,CAG38722,CAA71772,O00757,Q9UJ73,Q9UMQ9,Q9UMR0 Hs.61255 MGC142192 D-fructose-1,6-bisphosphate 1-phosphohydrolase 2|FBPase 2|fructose bisphosphatase 2|fructose-1,6-bisphosphatase isozyme 2|hexosediphosphatase|muscle fructose-bisphosphatase protein-coding 1342852 FBRS fibrosin Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM] 17083929,16344560,15489334,14702039,12477932,11733950,10493891,9809749,8889549,7892239 64319 AC093249,CH471192,AJ712524,AK021680,AK022551,AK093045,AK096322,NM_001105079,BG775600,DA527487,DC408959,DR761499,AK298229 EAW52215,EAW52216,EAW52217,EAW52218,BAB13872,BAB14094,BAG53259,P62706,BAG60498,Q9HAH7,NP_001098549 Hs.247186 FBS|FBS1|FLJ11618|Fibrosin-1 fibrogenic lymphokine|fibrosin 1|probable fibrosin-1 long transcript protein protein-coding 2303695 FBRSL1 fibrosin-like 1 10997877,12477932,19851445 57666 NM_001142641,AC079031,AC131212,AB046765,AF490258,BC034807,BU616646,CR596926,BC013284 NP_001136113,BAB13371,AAO85466,Q9HCM7,AAH13284,Q6PJP7 Hs.411138,Hs.656668 KIAA1545 AUTS2-like protein|HBV X-transactivated gene 9 protein|HBV XAg-transactivated protein 9|fibrosin-1-like protein protein-coding 1313605 FBXL12 F-box and leucine-rich repeat protein 12 Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 10531037,16169070,15761153,15520277,15489334,14702039,12477932,17207965 54850 NM_017703,AC008752,CH471106,AK000195,AK027004,AK093760,BC001586,BX647073,CR590448,CR592319,CR605677,CR610493,CR611175,CR611669,CR613783,CR614447,CR614471,CR626568 NP_060173,EAW84051,EAW84052,EAW84053,BAA91002,BAB15622,BAG52760,AAH01586,Q9NXK8,ADQ32318 Hs.12439 FLJ20188|Fbl12 F-box protein FBL12|F-box/LRR-repeat protein 12 protein-coding 1353687 FBXL13 F-box and leucine-rich repeat protein 13 Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15820312,15520277,15489334,15342556,14702039,12853948,12477932,9847074,20379614 222235 BC031285,BG717734,BP378950,AC005250,NM_145032,AC006477,AC073127,CH471070,AK095387,AK097537,AL713709,AY359238,AY359239,BC020572,BC020575,BC026121,NM_001111038 AAH31285,Q4G192,Q8N1P0,Q8NEE6,ABM82468,ABM85656,AAP22333,NP_659469,AAS00354,AAS07481,EAW83298,EAW83299,EAW83300,EAW83301,EAW83302,EAW83303,EAW83304,EAW83305,EAW83306,BAC04540,BAC05092,CAD28506,AAR13262,AAR13263,AAH20572,AAH20575,AAH26121,NP_001104508 Hs.660029 FLJ38068|Fbl13|MGC21636 F-box/LRR-repeat protein 13|OTTHUMP00000211760|OTTHUMP00000211761|OTTHUMP00000211764 protein-coding 1313599 FBXL14 F-box and leucine-rich repeat protein 14 Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 15520277,15489334,12477932,17207965,19955572 737633 144699 AC004671,AC005182,CH471116,BC028132,NM_152441 NP_689654,EAW88928,EAW88929,EAW88930,AAH28132,Q8N1E6,ADQ31776 Hs.367956 Fbl14|MGC40195 F-box/LRR-repeat protein 14 protein-coding 1315065 FBXL15 F-box and leucine-rich repeat protein 15 1580863 15489334,15164054,14702039,12477932 79176 NM_024326,AL121928,CH471066,AK122684,BC002912,BC036120,BC130566,BI914195,CR591228,CR592302,CR595934,CR601691,CR614978,CR616238,CR626178 NP_077302,CAI12517,CAI12518,CAI12519,CAI12520,CAI12522,EAW49699,AAH02912,AAH36120,AAI30567,Q9H469 Hs.380081 FBXO37|FLJ16137|Fbl15|JET|MGC11279|PSD F-box only protein 37|F-box/LRR-repeat protein 15|OTTHUMP00000020367|OTTHUMP00000059115|OTTHUMP00000059124|OTTHUMP00000059125|pleckstrin and Sec7 domain protein protein-coding 1319294 FBXL16 F-box and leucine-rich repeat protein 16 Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15616553,15520277,15489334,14702039,12477932,11157797,20043084 146330 NM_153350,AE006464,CH471112,Z97653,AK091054,BC034014,BC036680 NP_699181,AAK61245,EAW85749,EAW85750,CAJ55832,BAG52271,AAH34014,AAH36680,Q8N461,Q8N4J3,ACT64553,ACT64554 Hs.513244 C16orf22|FLJ33735|Fbl16|MGC33974|c380A1.1 F-box/LRR-repeat protein 16|OTTHUMP00000115487|c380A1.1 (novel protein) protein-coding 1348950 FBXL17 F-box and leucine-rich repeat protein 17 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 18820369,15520277,14702039,12477932,20200978,20379614,8889548 64839 NM_001163315,AC008462,AC008513,AC011419,AC092274,AC113358,CH471086,AK126722,AL133602,BC018548,BC063316,BC126144,BC126146,AA988642,AI826672,BM682767,AK172822 NP_001156787,EAW49061,EAW49062,BAC86658,CAB63737,AAI26145,AAI26147,Q9UF56,ADR82906 Hs.657225,Hs.721914 DKFZp434C1715|FBXO13|Fbl17|Fbx13|MGC161422|MGC161424 F-box only protein 13|F-box/LRR-repeat protein 17|OTTHUMP00000216505 protein-coding 1352891 FBXL18 F-box and leucine-rich repeat protein 18 Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 16189514,15520277,15489334,14702039,12477932 80028 NM_024963,AC006483,AC092171,CH471144,AA878073,AK001638,AK021529,AK057042,AK095394,AK123535,AK130444,AK294949,BC004228,BC006426,BC013435,BC015445,BC024256,BC042819 NP_079239,EAW87337,EAW87338,EAW87339,EAW87340,BAB13838,BAB71354,BAG53041,BAC85637,BAG58024,AAH04228,AAH13435,Q6ZW68,Q96D16,Q96ME1,AAH06426,AAH24256 Hs.623974,Hs.706587 FLJ10776|FLJ11467|FLJ26934|FLJ38075|FLJ41541|Fbl18 F-box/LRR-repeat protein 18|OTTHUMP00000200620 protein-coding 1322203 FBXL19 F-box and leucine-rich repeat protein 19 Members of the F-box protein family, such as FBXL19, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 14702039,15616553,15547684,15520277,15489334,12477932,20211142,20953189 54620 NM_001099784,AC135048,CH471192,AK098777,AK127701,AK302669,AL137589,BC032391,BC048811,BC059173,CX781342,DC401737 NP_001093254,EAW52187,EAW52188,EAW52189,EAW52190,BAC05410,BAH13775,CAB70830,AAH59173,Q6PCT2 Hs.152149 DKFZp434K0410|Fbl19|JHDM1C|MGC50505 F-box/LRR-repeat protein 19|OTTHUMP00000163236|OTTHUMP00000163237|jumonji C domain-containing histone demethylase 1C protein-coding 736852 FBXL2 F-box and leucine-rich repeat protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. [provided by RefSeq] 632681 14702039,10508920,10531037,10531035,17784784,15489334,12477932,10945468,15893726,16169070,16344560 632681 25827 AK303764,AK316229,AK316383,AL049953,BC031556,CR457121,AC122176,AC123900,CH471055,AF174589,AF176518,AF186273,AK001271,AK001438,AK096492,AK294209,AK297534,AK298967,AK299665,AK302218,NM_012157,AU124816,DA031508,NM_001171713 BAG64730,BAH14600,BAH14754,CAB43222,AAH31556,CAG33402,Q9UKC9,ABM82090,ABM85271,NP_036289,EAW64452,EAW64453,AAF04510,AAF03128,AAD56248,BAG50882,BAA91691,BAG57520,BAG59935,BAG61062,BAG61579,BAG63574,NP_001165184 Hs.475872 DKFZp564P0622|FBL2|FBL3 F-box protein FBL2/FBL3|F-box protein containing leucine-rich repeats|F-box/LRR-repeat protein 2|OTTHUMP00000208924 protein-coding 1345687 FBXL20 F-box and leucine-rich repeat protein 20 Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 19124506,15520277,15489334,12477932,16344560,17207965 737633 84961 NM_032875,AC005288,AC015910,CH471152,AK024690,AK123048,AK291844,AK312612,BC007557,DQ223959,AL117623,BC042012,DA747594,NM_001184906 NP_116264,EAW60573,EAW60574,BAG53862,BAF84533,BAG35499,AAH07557,ABB03906,Q96IG2,NP_001171835,ADQ31807 Hs.462946 DKFZp564O2364|FLJ21037|Fbl2|Fbl20|MGC15482|SCR|SCRAPPER F-box protein FBL2|F-box/LRR-repeat protein 2-like|F-box/LRR-repeat protein 20 protein-coding 1343721 FBXL21 F-box and leucine-rich repeat protein 21 (gene/pseudogene) This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. Comparisons of this gene to orthologous sequences suggest that it may be a pseudogene, and may no longer express a functional protein.[provided by RefSeq] 1580863 10531035,19240061,18404645,16344560,12477932,20237496 26223 NM_012159,AC002428,CH471062,AF129533,BC044938,BC106753,DA633926 NP_036291,EAW62202,EAW62203,AAF04467,AAI06754,Q3KPF8,Q9UKT6 Hs.591275 FBL3B|FBXL3B|FBXL3P|Fbl21|MGC120237 F-box and leucine-rich repeat protein 3 pseudogene|F-box and leucine-rich repeat protein 3B|F-box protein Fbl3b|F-box/LRR-repeat protein 21|F-box/LRR-repeat protein 3B|OTTHUMP00000209342 protein-coding 1350469 FBXL22 F-box and leucine-rich repeat protein 22 Members of the F-box protein family, such as FBXL22, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 15520277,15489336,15489334,14702039,12477932,11076863,16381901 737633 283807 AA495872,CR624191,NG_027784,NM_203373,AC118274,CH471082,AK096945,BC065833 NP_976307,EAW77653,AAH65833,Q6P050,CAL37683,CAL37880,CAL38041,CAL38212,CAL38748 Hs.656997,Hs.595605 FLJ39626|Fbl22|MGC75496 F-box/LRR-repeat protein 22 protein-coding 1343078 FBXL3 F-box and leucine-rich repeat protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq] 1580863 17207965,10531035,17463251,16344560,15489334,12477932,10945468,10828603,10531037 26224 NM_012158,AC001226,CH471093,AF126028,AF129532,AI133484,AK025484,AK314442,AL833187,BC063796,BC072448,DA119701 ADQ31985,NP_036290,EAW80563,AAF37383,AAF04466,BAG37051,AAH72448,Q9UKT7 Hs.508284 FBL3|FBL3A|FBXL3A F-box and leucine-rich repeat protein 3A|F-box protein Fbl3a|F-box/LRR-repeat protein 3|F-box/LRR-repeat protein 3A|OTTHUMP00000018520 protein-coding 1313923 FBXL4 F-box and leucine-rich repeat protein 4 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least 9 tandem leucine-rich repeats. [provided by RefSeq] 1580863 18029348,10531035,15489334,14574404,12477932,10945468,10531037 26235 NM_012160,AL022395,CH471051,AF174590,AF176699,AF199355,AI935511,AJ420594,AK308736,AK313076,AL523022,BC032641,BC039819,BC055010,BC091484,BQ213738,CR590319,CR605444 NP_036292,CAB37981,EAW48488,EAW48489,EAW48490,AAF04511,AAF03699,AAF09247,BAG35902,AAH55010,AAH91484,Q9UKA2 Hs.536850 FBL4|FBL5 F-box protein FBL4|F-box protein FBL4/FBL5|F-box/LRR-repeat protein 4|OTTHUMP00000016888 protein-coding 1315757 FBXL5 F-box and leucine-rich repeat protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863 19762596,19762597,10531035,17532294,16381901,15489336,15489334,14702039,12477932,11230166,11076863,10945468,10531037,9110174,8619474,16344560 26234 NM_012161,AC114744,AC116651,CH471069,AF052097,AF142481,AF157323,AF174591,AF176700,AF199420,AK000153,AK295510,AK310860,AL832808,BC012320,BC030656,BI464829,BQ008436,BX537957,NM_001193534,NM_001193535,NR_036464,AI858616,BF432189,DB080171 NP_036293,AAY40929,EAW92736,EAW92737,EAW92738,EAW92739,AAF66616,AAF67489,AAF04512,AAF03700,AAF09249,BAA90978,BAG58427,AAH30656,CAD97924,Q9UKA1,CAL37543,CAL38352,ABM83378,ABM86590,NP_001180463,NP_001180464 Hs.643433,Hs.714386 FBL4|FBL5|FLR1 F-box protein FBL4/FBL5|F-box protein FBL5|F-box/LRR-repeat protein 5|OTTHUMP00000217786|p45SKP2-like protein protein-coding 1353759 FBXL6 F-box and leucine-rich repeat protein 6 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863 10531035,18426905,15489334,14702039,12477932,10531037,9373149,8125298 26233 AF174592,AF370422,AK026541,AK223088,AL713783,BC033066,NM_012162,NM_024555,AF205589,CH471162,AC233992 EAW82122,AAF04513,AAQ15258,BAB15499,BAD96808,AAH33066,Q71RB6,Q8N531,NP_036294,NP_078831,EAW82117,EAW82118,EAW82119,EAW82120,EAW82121 Hs.12271 FBL6|FBL6A|PP14630 F-box protein Fbl6|F-box/LRR-repeat protein 6 protein-coding 1314074 FBXL7 F-box and leucine-rich repeat protein 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. [provided by RefSeq] 1580863 15070733,10531035,16000324,15489334,14702039,12477932,12168954,10945468,10531037,10048485,20379614,20418484 23194 AC010477,AC010638,AC027332,AC091872,AC091970,CH471102,AB020647,AF174593,AF199356,AK021671,AK309585,AY425960,BC050571,BC075061,BC136424,NM_012304 NP_036436,EAX08028,EAX08029,BAA74863,AAF04514,AAF09248,AAR07953,AAH75061,AAI36425,Q6TAQ9,Q9UJT9 Hs.433057 FBL6|FBL7 F-box protein FBL6/FBL7|F-box protein Fbl7|F-box/LRR-repeat protein 7|OTTHUMP00000220749 protein-coding 1352579 FBXL8 F-box and leucine-rich repeat protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq] 1580863 15489334,14702039,12477932,10531037,19159283,19913121,20628086 55336 NM_018378,AC074143,CH471092,AK002140,BC014414,CR598009,CR611910 NP_060848,EAW83082,BAA92103,AAH14414,Q96CD0,ABM84591,ABM86700 Hs.710714 FBL8|FLJ11278|MGC19959 F-box protein FBL8|F-box/LRR-repeat protein 8 protein-coding 1313507 FBXO10 F-box protein 10 Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1601189,1580863 20554749,10531035,10531037,19300908,19124506,15520277,15164053,15146197,14702039,11181995,12477932,20379614 1601189 26267 NM_012166,AL513165,CH471071,AB209610,AF174598,AF176705,AI475671,AK123986,BC013747,BC125124,BC125125,BC140785,BC171785,BU623815,CN411883 NP_036298,CAI16152,EAW58274,EAW58275,EAW58276,BAD92847,AAF04519,AAF03705,AAI25125,AAI25126,AAI40786,AAI71785,Q08AL4,Q59F51,Q9UK96 Hs.709527 FBX10|FLJ41992|MGC149840|PRMT11 F-box only protein 10|F-box protein Fbx10 protein-coding 1348534 FBXO11 F-box protein 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 18029348,16487488,17098746,10531035,10531037,16847180,15489334,14702039,12477932,11775060,9373149,8125298,15520277,17642606,19360327,19615732,20379614,20514423,20646433 80204 NG_008397,AC006509,AC079807,CH471053,AF174599,AF176706,AF264714,AF351618,AK022735,AK025477,AK097734,AK223592,AK292877,AK297444,AK304140,AK315108,AL117620,AY827075,BC012728,BC043258,NM_025133,BC130445,BC136480,AI879484,DN994547,NM_001190274 NP_079409,AAY24083,EAX00202,EAX00203,EAX00204,EAX00205,EAX00206,EAX00207,AAF04520,AAF17611,AAF76888,AAN76518,BAB14214,BAB15143,BAG53523,BAD97312,BAF85566,BAG59870,BAG65034,CAB56019,AAV87312,AAH12728,AAH43258,AAI30446,AAI36481,Q86XK2,NP_001177203,ADR83434 Hs.352677 FBX11|FLJ12673|MGC44383|PRMT9|UBR6|UG063H01|VIT1 F-box only protein 11|OTTHUMP00000200455|protein arginine N-methyltransferase 9|ubiquitin protein ligase E3 component n-recognin 6|vitiligo-associated protein 1|vitiligo-associated protein VIT-1 protein-coding 1321642 FBXO15 F-box protein 15 Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15520277,15489334,14702039,12665572,12477932,10531037,8889548,17207965 201456 NM_001142958,NM_152676,AC084702,AC090125,CH471117,AK093252,BC029579,BI829755,BU729305,DB447209,AK094215 NP_001136430,NP_689889,EAW66536,EAW66537,EAW66538,EAW66539,BAG52845,AAH29579,Q8NCQ5,ADQ31818 Hs.664011 FBX15|MGC39671 F-box only protein 15 protein-coding 1312847 FBXO16 F-box protein 16 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. [provided by RefSeq] 1580863 15489334,14702039,12477932,12243353,10531035,10531037 157574 NM_172366,AC025871,CH471080,AF453435,AK098243,AL560247,BC074986,BC102026,BC102027,BC102028,CR590799 NP_758954,EAW63512,EAW63513,EAW63514,EAW63515,EAW63516,EAW63517,EAW63518,AAN76812,AAH74986,AAI02027,AAI02028,AAI02029,Q3T1B2,Q3T1B3,Q8IX29 Hs.659190 FBX16|MGC125923|MGC125924|MGC125925 F-box only protein 16|OTTHUMP00000128340 protein-coding 1318004 FBXO17 F-box protein 17 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing of this gene results in 2 transcript variants encoding different isoforms. [provided by RefSeq] 17672918,15489334,14702039,12477932,12383498,11178263,10531037,18203720,19615732 115290 NM_024907,NM_148169,AC011455,CH471126,AF386743,AK021860,AK057934,BC012385,CR621585 NP_079183,NP_680474,EAW56853,EAW56854,EAW56855,AAL37625,BAB71616,AAH12385,Q96EF6,ABM82255,ABM84283,ABM85438,ABM87675 Hs.531770 FBG4|FBX26|FBXO26|FLJ11798|FLJ25205|FLJ58300|Fbx17|MGC9379 F-box only protein 17|F-box only protein 26|F-box protein FBG4 protein-coding 1314839 FBXO18 F-box protein, helicase, 18 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. 17724085,15489334,15164054,14702039,12477932,11956208,10531037,20453838,16169070,16385451,18029348,19736316 84893 NM_178150,NM_032807,AL137186,CH471072,AF380349,AF454502,AF456237,AK027381,AK027496,AK095343,AK122753,AK226128,AK315173,AL133069,AL832251,BC006430,BC012762,BC020266,BC032674,BC080629,BC110884,BC113375,BC113377,CR596857 NP_835363,NP_116196,CAI41073,CAI41074,CAI41075,EAW86424,EAW86425,EAW86426,EAW86427,EAW86428,AAM73631,AAP97700,AAP97705,BAB55073,BAB55154,BAC04535,BAG53707,BAG37614,CAB61392,AAH06430,AAH12762,AAH32674,AAH80629,AAI10885,AAI13376,AAI13378,Q14DG0,Q2TAK1,Q5JVB6,Q66K33,Q8NFZ0 Hs.498543 FBH1|FLJ14590|Fbx18|MGC131916|MGC141935|MGC141937 F-box DNA helicase 1|F-box only protein 18|F-box only protein, helicase, 18 protein-coding 732900 FBXO2 F-box protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq] 1580863 15723043,16682404,15342556,10531035,16710414,15489334,12904574,12477932,12383498,12140560,10531037,9857061,17389369,7458746 26232 AW162121,BE464909,BP209877,NM_012168,AL031731,CH471130,AF174594,AF187318,AK308531,AK313019,AW138262,BC014957,BC025233,BC096747,BF967195,BM128229,CR542110,H18283 NP_036300,CAI20209,EAW71689,AAF04515,AAF01822,BAG35854,AAH25233,AAH96747,CAG46907,Q9UK22,ABM83774,ABM83775,ABM87094 Hs.132753 FBG1|FBX2|Fbs1|NFB42|OCP1 F-box gene 1|F-box only protein 2|neural f box protein nfb42|organ of Corti protein 1 protein-coding 1316490 FBXO21 F-box protein 21 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863 10531035,15489334,14702039,12477932,12421765,11230166,10048485 23014 NM_033624,NM_015002,AC026364,AC026368,CH471054,AB020682,AF174601,AK001699,AK074714,AK308141,AK314573,AL136899,BC034045,BC042333,BC091496,BI550121,CR593322 NP_296373,NP_055817,EAW98102,EAW98103,EAW98104,EAW98105,EAW98106,BAA74898,AAF04522,BAG50962,BAG51990,CAB66833,AAH34045,AAH42333,AAH91496,O94952,Q4G104,Q8IUQ5 Hs.159699 DKFZp434G058|FBX21|FLJ90233|KIAA0875|MGC26682 F-box only protein 21 protein-coding 1315406 FBXO22 F-box protein 22 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Two transcript variants encoding different isoforms exist for this gene. [provided by RefSeq] 1580863 15520277,18922183,20728256,10531037,10531035,17855421,15489334,14702039,12477932,9373149,8125298,12481031,19615732,17207965 26263 AL705285,AW292124,NR_037623,NM_147188,NM_012170,AC027104,AF174602,CH471136,AK024048,AK026282,AK223500,AK294311,AK307084,AL705308,AY005144,BC020204,BC032540,BC039024,BC041691,BE738571,BG328756,CR608996,CR609855,CR618654 NP_671717,NP_036302,AAF04523,EAW99229,EAW99230,EAW99231,EAW99232,BAB14798,BAD97220,BAG57588,AAF89095,AAH20204,AAH32540,AAH39024,AAH41691,Q53EY9,Q8NEZ5,ADQ33005 Hs.629823,Hs.591115 FBX22|FISTC1|FLJ13986|MGC31799 F-box only protein 22|F-box protein FBX22p44|FIST domain containing 1 protein-coding 1602355 FBXO22OS FBXO22 opposite strand (non-protein coding) 692224 NR_003136,AC027104,AA843761,AA931120,AI868357 Hs.591115 FISTC1OS|HsT18082|NCRNA00053 miscrna 1312922 FBXO24 F-box protein 24 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10531035,15489334,12853948,12690205,12477932,11230166,10531037,9847074 26261 BC051745,BC067293,BU656991,DC397982,NM_012172,NM_001163499,AC069281,AF053356,CH236956,CH471091,AF174604,AK292240,AK301864,AK302252,NM_033506,AK310487,AL136811,BC032497 AAH67293,O75426,NP_277041,NP_036304,NP_001156971,AAP21862,AAP21863,AAC78801,EAL23826,EAL23827,EAW76516,EAW76517,EAW76518,AAF04525,BAF84929,BAG63303,BAG63604,CAB66745 Hs.283764 DKFZp434I1122|FBX24 F-box only protein 24|F-box protein Fbx24|OTTHUMP00000215772 protein-coding 1603223 FBXO25 F-box protein 25 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 17207965,20473970,10531035,18287534,16278047,15489334,12477932,10531037,7566098 26260 NM_012173,NM_183421,NM_183420,AC083964,CH471181,AA316216,AB070270,AF174605,AF419858,AI223050,AK302334,BC012143,BC020249,BC035555,BC050393,CR591359,CR596773 ADQ32194,AAH50393,NP_904357,NP_904356,NP_036305,EAW51450,EAW51451,EAW51452,EAW51453,EAW51454,EAW51455,BAB85128,AAF04526,AAP97293,BAG63665,AAH20249,Q8TCJ0 Hs.438454 FBX25|MGC20256|MGC51975 F-box only protein 25|F-box protein Fbx25|OTTHUMP00000115399 protein-coding 1343305 FBXO27 F-box protein 27 Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 18203720,17207965,15520277,15489334,12477932,12383498,126433 126433 NM_178820,AC010605,CH471126,AF436061,BC014527,BC030060,CR615928 ADQ32620,NP_849142,EAW56856,AAM27918,AAH14527,AAH30060,Q8NI29 Hs.187461 FBG5|Fbx27 F-box only protein 27|F-box protein FBG5|F-box/G-domain protein 5 protein-coding 1312107 FBXO28 F-box protein 28 Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 17081983,16710414,16189514,15520277,15489334,15342556,15146197,14702039,12477932,9455484 737633 23219 NM_015176,NM_001136115,AL390122,CH471098,AB007952,AI354536,AK001628,AK303381,AK307892,BC014378,BC031576,BP249147,CN415382,CR607611,CR607640 NP_055991,NP_001129587,CAH70934,EAW69709,EAW69710,BAA32327,BAA91795,BAG64437,AAH31576,Q9NVF7 Hs.64691,Hs.713992 FLJ10766|Fbx28|KIAA0483 F-box only protein 28 protein-coding 1314921 FBXO3 F-box protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq] 1580863 10531035,18809579,14702039,12477932,11230166,10945468,10531037,12481031,19615732,20379614 26273 NM_012175,NM_033406,AC113192,AL049629,CH471064,AB209039,AF174595,AF176702,AK001943,AK128454,AK300721,AK304866,AK316286,AL136625,AL832826,BC017107,BC039291,BC046110,BG716664,CR594730 AAH39291,NP_036307,NP_208385,EAW68186,EAW68187,EAW68188,EAW68189,EAW68190,EAW68191,BAD92276,AAF04516,AAF03702,BAA91991,BAG54678,BAH13334,BAG65604,BAH14657,CAB66560,AAH46110,Q49AF1,Q59GS0,Q9UK99,Q9UKC5,ACE87581,ACE86894 Hs.406787 DKFZp564B092|FBA|FBX3 F-box only protein 3|F-box protein FBX3 protein-coding 1347238 FBXO30 F-box protein 30 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq] 1580863 15761153,15520277,15489334,14702039,14574404,12903040,12536519,12477932,20936779 84085 NM_032145,AL356599,CH471051,AF248640,AK055919,AK123026,AK124138,AK313613,BC024326,CD109841 NP_115521,CAI41119,EAW47841,AAK30299,BAG36376,AAH24326,Q8TB52 Hs.421095 FLJ41030|Fbx30|MGC21674 F-box domain protein|F-box only protein 30|F-box only protein, helicase, 18 protein-coding 1351564 FBXO31 F-box protein 31 Members of the F-box protein family, such as FBXO31, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 19801982,19412162,16381901,16357137,15520277,15489336,15489334,12477932,12213200,11230166,11076863 79791 NM_024735,AC010531,CH471114,AF318348,AF428140,AK311122,AL117444,AY736035,BC002985,BC012748,NR_024568,BG718342,BI596608,DB444853 NP_079011,EAW95400,EAW95401,EAW95402,EAW95403,EAW95404,AAL55855,AAQ04213,CAB55929,AAU50679,AAH12748,Q5XUX0 Hs.567582 DKFZp434B027|DKFZp434J1815|FBX14|FBXO14|FLJ22477|Fbx31|MGC15419|MGC9527|pp2386 F-box only protein 31|SCF ubiquitin ligase specificity factor|putative breast cancer tumor-suppressor protein-coding 734419 FBXO32 F-box protein 32 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing of this gene results in two transcript variants encoding two isoforms of different sizes. [provided by RefSeq] 633893,1580863 19453261,18681786,18599544,17992259,17977773,17971512,17901116,17609255,17519359,17478621,16868939,16507768,14702039,12477932,11717410,11679633,18354498,17207965,19850579,19859778,20065949 633893 114907 NM_058229,NM_148177,AC090193,CH471060,AJ420108,AK056986,AY059629,BC024030,BC100020,BC120963,BC120964,EF143260 NP_478136,NP_680482,EAW92040,EAW92041,EAW92042,EAW92043,CAD12251,BAB71333,AAL16407,AAH24030,AAI00021,AAI20964,AAI20965,ABO37797,Q0VAQ6,Q498Y9,Q969P5,ADQ32382 Hs.403933 FLJ32424|Fbx32|MAFbx|MGC33610 F-box only protein 32|atrogin 1|atrogin-1|f-box only protein 32|muscle atrophy F-box protein protein-coding 1316797 FBXO33 F-box protein 33 Members of the F-box protein family, such as FBXO33, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15520277,15489334,12477932,16797541,20379614 254170 NG_027725,NM_203301,AL049875,AL157791,CH471078,AI989795,AK294140,BC030611,BC042535,BC053537,BC068566,BX248772,AI141232 NP_976046,EAW65803,BAG57466,AAH42535,AAH53537,AAH68566,CAD66579,Q7Z6M2 Hs.324342,Hs.146632 BMND12|Fbx33|c14_5247 F-box only protein 33 protein-coding 1320823 FBXO34 F-box protein 34 Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 16344560,15761153,15520277,15489334,14702039,12477932,9373149,8125298,16169070 55030 AK092873,AK092879,AK225367,BC020583,BC063526,BC095482,BC109120,BC109121,BF977310,BX248268,CA428544,CR457249,CR622458,CR622495,DA228125,NM_017943,NM_152231,AL158801,AL834124,CH471061,AI911690,AK000732,HI573948 AAH95482,AAI09121,AAI09122,CAD62596,CAG33530,BAA91346,P59074,Q4VBP5,Q9NWN3,NP_060413,NP_689417,EAW80669,EAW80670,EAW80671,CBX47463 Hs.525348,Hs.654725 CGI-301|DKFZp547C162|FLJ20725|Fbx34|MGC126434|MGC126435 F-box only protein 34|protein CGI-301 protein-coding 1317314 FBXO36 F-box protein 36 Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 15520277,15489334,14702039,12477932,20379614 737633 130888 NM_174899,AC009973,CH471063,AK094911,AK123085,AK289655,AK309702,BC017869,BC022538,BC033935,BF674223,BM997950,CR593898 NP_777559,AAY14756,EAW70909,EAW70910,EAW70911,EAW70912,BAG53868,BAF82344,AAH22538,AAH33935,Q8NEA4 Hs.140666 FLJ37592|FLJ41090|Fbx36 F-box only protein 36|OTTHUMP00000204199 protein-coding 1322999 FBXO38 F-box protein 38 15498874,15489334,15302935,14729953,14702039,12477932,19615732,20549515 81545 NM_205836,NM_030793,AC091948,AC114939,CH471062,AF177339,AF251055,AK024024,AK308414,AK313558,AL832841,BC005849,BC005873,BC015366,BC033454,BC047743,BC050424,BC056147,BC078159,BI459318 NP_995308,NP_110420,EAW61805,EAW61806,EAW61807,EAW61808,AAG17983,AAK34945,BAB14783,AAH05849,AAH05873,AAH15366,AAH33454,AAH50424,AAH56147,AAH78159,Q6AZE0,Q6PIJ6 Hs.483772 Fbx38|MOKA|SP329 F-box only protein 38|OTTHUMP00000223924|modulator of KLF7 activity homolog protein-coding 1322937 FBXO39 F-box protein 39 Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 15520277,15489334,12477932 737633 162517 NM_153230,AC034305,CH471108,AI125619,AK308712,AK311148,BC034782,BM554273,DB524242,HC044849 NP_694962,EAW90286,AAH34782,Q8N4B4,CBH30754 Hs.368364 FLJ18190|FLJ98753|Fbx39|MGC35179 F-box only protein 39 protein-coding 1316856 FBXO4 F-box protein 4 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863 16275645,17353931,10531035,18598945,17081987,16581786,16344560,15520277,15489334,15302935,14702039,12477932,10828603,10531037,20159592,20181953,17207965 26272 NM_012176,NM_033484,AC034222,CH471119,AF129534,AF176703,AK001003,AK024075,AU143782,BC040011,BC048098,CR600197,CR749719 NP_036308,NP_277019,EAW56019,EAW56020,AAF04468,AAF03703,BAA91463,BAG51262,AAH48098,CAH18486,Q9NWC0,Q9UKT5,ADQ32475 Hs.165575 DKFZp547N213|FBX4|FLJ10141 F-box only protein 4|F-box protein Fbx4|OTTHUMP00000221209 protein-coding 1320304 FBXO40 F-box protein 40 Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 18029348,17928169,16344560,15520277,15489334,12477932,10574462,19734545 51725 NM_016298,AC063920,AC069239,CH471052,AB033021,AF163259,AF204674,AK314400,BC109275,BC109276,DB081227 NP_057382,EAW79507,EAW79508,BAA86509,AAQ13588,AAF17085,BAG37024,AAI09276,AAI09277,Q7Z2T7,Q9UH90 Hs.272564 FBX40|KIAA1195|MGC129902|MGC129903 F-box only protein 40|muscle disease-related protein protein-coding 1351223 FBXO41 F-box protein 41 Members of the F-box protein family, such as FBXO41, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15815621,15520277,14702039,12477932,11853319,15070733 150726 NM_001080410,AC010913,AB075820,AK055121,AK095028,AK127503,BC112202,CR936834,CH471053,R45456 BAB85526,BAG54515,AAI12203,Q2M1V8,Q8TF61,NP_001073879,EAW99736 Hs.23158 FBX41|FLJ37709|Fbx41 F-box only protein 41 protein-coding 1312431 FBXO42 F-box protein 42 Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 19509332,16710414,15520277,15489334,14702039,12477932,10718198 737633 54455 NM_018994,AL109627,AL358794,CH471167,AB037753,AK025059,AK055598,AK310671,AL833207,AL833874,BC006174,BC032439,BC043410,BC047296,BC063864,CR602597,CR615859 NP_061867,CAI22560,CAI22561,CAH73774,EAW51774,EAW51775,BAA92570,BAG51542,CAD38731,AAH06174,AAH32439,AAH43410,AAH63864,Q6P3S6 Hs.522384 Fbx42|JFK|KIAA1332 F-box only protein 42|just one F-box and Kelch domain-containing protein protein-coding 1321003 FBXO43 F-box protein 43 Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 18550795,16456547,16407128,16344560,15753281,15520277,15489334,12477932 286151 DA996924,NM_001029860,AC021590,AK310518,BC028709,BC090892,BG391951,DB056068,AI198884,DB088246,NR_036491 NP_001025031,Q4G163,AAI56851 Hs.339577 EMI2|ERP1|FBX43|Fbx43 F-box only protein 43|early mitotic inhibitor 2|endogenous meiotic inhibitor 2 protein-coding 1606989 FBXO44 F-box protein 44 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Four alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq] 18203720,19615732,20057081,17207965,16710414,15520277,15489334,14702039,12477932,12383498,10531035 93611 AK293721,AK294053,AK296025,AK301418,AK316284,AK316347,NM_183412,NM_001014765,NM_033182,NM_183413,AL031731,CH471130,AK055344,AY007380,AY040878,BC007832,BM903606,CR749368 BAH11578,BAH11660,BAH12240,BAH13479,BAH14655,BAH14718,ADQ32661,NP_904319,NP_001014765,NP_149438,NP_904320,CAI20210,CAI20211,CAI20212,CAI20213,EAW71690,EAW71691,EAW71692,EAW71693,EAW71694,EAW71695,BAG51504,AAG09623,AAK77940,AAH07832,CAH18221,Q9H4M3 Hs.556006 DKFZp781J0852|FBG3|FBX30|FBX6A|Fbx44|Fbxo6a|MGC14140 F-box gene 3|F-box only protein 44|F-box protein FBX30|F-box/G-domain protein 3|OTTHUMP00000002242|OTTHUMP00000035894|OTTHUMP00000035896 protein-coding 1349858 FBXO45 F-box protein 45 Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 16012741,15520277,19581926,19615732 200933 AC092933,CH471191,AK025697,BE047625,BE778263,CA445163,DB636510,NM_001105573 NP_001099043,EAW53643,EAW53644,P0C2W1,AAI72382 Hs.169815 Fbx45 F-box only protein 45|F-box/SPRY domain-containing protein 1|hFbxo45 protein-coding 1318136 FBXO46 F-box protein 46 Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 17081983,15520277,15489334,12477932,9585442,19159283 737633 23403 NM_001080469,AC007191,AC007774,BC008046,BC013570,BC021978,BC046245,CR594072,Y10936 NP_001073938,AAH21978,CAA71862,O00439,Q6PJ61 Hs.128702 20D7-FC4|FBXO34L|Fbx46 F-box only protein 34-like|F-box only protein 46 protein-coding 1606618 FBXO47 F-box protein 47 16344560,15723337,12477932 494188 NM_001008777,AC006441,CH471152,AY700575,BC140879,BC140880,DB340247 NP_001008777,EAW60546,AAV91324,AAI40880,AAI40881,Q5MNV8 Hs.549536 F-box only protein 47 protein-coding 1605751 FBXO48 F-box protein 48 12477932 554251 NM_001024680,AC127383,CH471053,BC089423,DQ904332 NP_001019851,EAW99873,AAH89423,ABI98402,Q5FWF7 Hs.164117 F-box only protein 48 protein-coding 1319734 FBXO5 F-box protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 11988738,12791267,16921029,15469984,15148369,19211842,18204430,17676996,17609108,17485488,17234884,17190794,16861914,16439210,16344560,15489334,14702039,14574404,12703993,12477932,11976684,11389834,10828603,10531037,10531035,10409428,20800603,17719540,19822658,20641033 26271 DB122061,NM_001142522,NM_012177,AL080276,CH471051,AF129535,AJ420499,AK026197,AK055221,AK314456,AY079515,BC018905,BG944882,BI838832 Q5TF47,Q9UKT4,ABM82848,ABM86032,NP_001135994,NP_036309,CAI18894,CAI18895,EAW47718,EAW47719,EAW47720,AAF04469,BAG51487,BAG37064,AAL86610,AAH18905 Hs.520506 EMI1|FBX5|Fbxo31 F-box only protein 5|F-box protein Fbx5|early mitotic inhibitor 1 protein-coding 1352122 FBXO6 F-box protein 6 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq] 1580863 10531035,17207965,16710414,15489334,12939278,12477932,12383498,10945468,10531037,19716789 26270 NM_018438,AL031731,CH471130,AF129536,AF233223,AK314989,BC020880 NP_060908,CAI20214,CAI20215,EAW71696,AAF04470,AAF67153,BAG37485,AAH20880,Q9NRD1,ADQ32156 Hs.464419 FBG2|FBS2|FBX6|Fbx6b F-box only protein 6|F-box protein FBG2|F-box protein Fbx6|F-box protein that recognizes sugar chains 2|F-box/G-domain protein 2|OTTHUMP00000002268 protein-coding 1313800 FBXO7 F-box protein 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq] 1580863 20669327,11256614,19615732,19820697,15145941,10531035,19038853,18495667,16581786,16510124,16381901,15489336,15489334,15461802,14702039,12529303,12527899,12477932,11076863,10945468,10737800,10591208,10531037,20603184 25793 NM_012179,NM_001033024,NG_016001,AL021937,Z71183,AF129537,AF233225,AK054739,AK226087,AK291972,AK297841,AK301716,AL050254,BC008361,BC041004,BI821903,BQ326686,BU584368,BX362053,BX409547,BX648151,BX648220,CR456491,CR590485,CR593358,CR594073,CR595323,CR595682,CR595967,CR597417,CR601059,CR603352,CR604183,CR605462,CR608700,CR609315,CR610260,CR612081,CR614931,CR615136,CR615639,CR615847,CR617506,CR618551,CR625215,CR626566,CR626751,BX648644,AL035068,CH471095 NP_036311,NP_001028196,EAW60026,CAI18782,CAI18783,AAF04471,AAF67155,BAF84661,BAG60175,BAG63187,CAB43356,AAH08361,CAG30377,Q5HYB3,Q9Y3I1,CAI46263,CAL37618,CAK54519,CAK54818,ABW03590,ABW03591,CAI19587,CAI19588,CAM27809,CAM27810,CAI19333,CAI19334,EAW60023,EAW60024,EAW60025 Hs.5912 DKFZp686B08113|FBX|FBX07|FBX7|PARK15|PKPS F-box only protein 7|OTTHUMP00000028823 protein-coding 1316882 FBXO8 F-box protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq] 1580863 14702039,12975309,12477932,10531037,10531035,15489334,10945468,18029348,18987618,17207965 26269 CR624994,AC097653,CH471056,AF115514,AF174596,AF201932,AF233224,AK026319,AK123740,AK314483,AL602916,AY358721,BC014679,BC014903,BC040456,CR592920,CR603561,CR617381,CR620156,CR620476,CR621638,NM_012180 NP_036312,EAX04741,EAX04742,EAX04743,EAX04744,EAX04745,AAO06951,AAF04517,AAF86868,AAF67154,BAG53949,BAG37087,AAQ89083,AAH14679,AAH40456,Q8IWE1,Q8IXA8,Q9NRD0,ADQ32317 Hs.76917 DC10|FBS|FBX8 F-box only protein 8|F-box protein Fbx8|F-box/SEC7 protein FBS|OTTHUMP00000218883 protein-coding 1321245 FBXO9 F-box protein 9 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq] 1580863 10531035,10531037,15520277,15489334,14702039,14574404,12477932,10508479,8889549,20459822 26268 NM_033481,NM_033480,NM_012347,AL031178,CH471081,AA132361,AA890006,AB209833,AF174597,AF176704,AK021559,AK095307,AK095315,AL137520,AY858798,BC000650,BC024973,BX641082,CR603015,CR625061 NP_258442,NP_258441,NP_036479,CAI20262,CAI20263,EAX04405,EAX04406,EAX04407,EAX04408,EAX04409,EAX04410,BAD93070,AAF04518,AAF03704,BAG51038,CAB70786,AAW51115,AAH00650,Q4W8W0,Q59EH8,Q9UK97 Hs.216653 DKFZp434C0118|FBX9|KIAA0936|NY-REN-57|VCIA1|dJ341E18.2 F-box only protein 9|F-box protein Fbx9|cross-immune reaction antigen 1|renal carcinoma antigen NY-REN-57 protein-coding 1344414 FBXW10 F-box and WD repeat domain containing 10 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 20498703,16344560,15520277,12477932,11230166 10517 HC006954,NM_031456,AC107982,AK310383,AL136822,AY729024,BC028364,BI828401,DB055860 CBH19282,NP_113644,CAB66756,AAU43731,AAH28364,Q5XX13 Hs.592128 Fbw10|HREP|SM25H2|SM2SH2 F-box and WD-40 domain protein 10|F-box and WD-40 domain-containing protein 10|F-box protein|F-box/WD repeat-containing protein 10|f-box and wd-40 domain protein 10|ubiquitin ligase specificity factor|ubiquitin ligase-specificity factor protein-coding 1344741 FBXW10P1 F-box and WD-40 domain protein 10 pseudogene 1 446204 1319284 FBXW11 F-box and WD repeat domain containing 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq] 19966869,10531035,15070733,17353931,16865294,15489334,14743216,12481031,12477932,11896578,10694485,10644755,9734811,17121803,14603323,12482991,14532120,16085715,16651270,16880511,16885022,17510365,17643375,19159283,19615732 23291 NM_033645,NM_033644,NM_012300,NG_009275,AC011387,AC011410,AC113342,CH471062,AB014596,AB033279,AB033280,AB033281,AF176022,AK294956,AK314999,BC026213 BAG37495,NP_387449,NP_387448,NP_036432,EAW61440,BAA31671,BAA92329,BAA92330,BAA92331,AAF04528,BAG58031,AAH26213,Q9UKB1,ABM82051,ABM85230 Hs.484138 BTRC2|BTRCP2|FBW1B|FBXW1B|Fbw11|Hos|KIAA0696 F-box and WD repeats protein beta-TrCP2|F-box and WD-40 domain protein 11|F-box and WD-40 domain protein 1B|F-box protein Fbw1b|F-box/WD repeat-containing protein 11|F-box/WD repeat-containing protein 1B|beta-transducin repeat-containing protein 2|homologous to Slimb protein protein-coding 1349057 FBXW11P1 F-box and WD repeat domain containing 11 pseudogene 1 10830953 54099 NG_000930,AP000252 BTRC2P|FBXW1BP|FBXW1BP1 f-box and wd-40 domain protein 11 pseudogene 1 pseudo 1352427 FBXW12 F-box and WD repeat domain containing 12 Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15520277,15040455,14702039,12477932 285231 NM_207102,NM_001159927,NM_001159929,AC104448,CH471055,AK097594,AY247969,BC101303,BC101304,BC101305,BC101306 NP_996985,NP_001153399,NP_001153401,EAW64863,AAP75562,AAI01304,AAI01305,AAI01306,AAI01307,Q494Y9,Q494Z0,Q494Z1,Q6X9E4 Hs.288793 FBW12|FBXO12|FBXO35|MGC120385|MGC120386|MGC120387 F-box and WD-40 domain protein 12|F-box and WD-40 domain-containing protein 12|F-box only protein 35|F-box- and WD40-repeat-containing protein|F-box/WD repeat-containing protein 12|OTTHUMP00000210035|OTTHUMP00000210036|f-box and wd-40 domain protein 12 protein-coding 1321373 FBXW2 F-box and WD repeat domain containing 2 F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq] 1580863 15070733,10531035,18703417,16344560,15640526,14702039,14603323,12477932,10828603,10531037,9635407,7670494,19297328 26190 BX537625,DA703966,U29107,AL138836,AL161911,CH471090,AF129531,AF145024,AF176698,AF193594,AK022484,AK025767,AK054580,AK095377,AK300066,AK314385,BC000239,BC018738,BC024204,NM_012164,BC110334 AAI10335,Q4VXH1,Q9UKT8,ABM83271,ABM86476,NP_036296,CAI95113,CAI95114,EAW87470,AAF04465,AAP97276,AAF13226,AAP97280,BAB14051,BAG61872,BAG37010,AAH18738 Hs.494985 FBW2|Fwd2|MGC117371|Md6 F-box and WD-40 domain protein 2|F-box and WD-40 domain-containing protein 2|F-box/WD repeat-containing protein 2|OTTHUMP00000021995|f-box and wd-40 domain protein 2 protein-coding 1603710 FBXW4 F-box and WD repeat domain containing 4 This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq] 8723077,7912888,18765672,10405324,10945468,16761290,16235095,15489334,15232212,15164054,14702039,14699611,14603323,12974740,12913067,12477932,19596235 6468 NM_022039,NG_008091,AC010789,AL627144,AL627424,CH471066,AF281859,AK056917,AK123173,AK314735,BC007380,BC063415,CR595186 NP_071322,Q5SVS3,CAI12230,CAI12231,CAI12232,CAI41025,CAI41027,EAW49751,EAW49752,EAW49753,AAG22739,BAG37276,AAH07380,AAH63415,P57775,Q5SVS2 Hs.500822 DAC|FBW4|FBWD4|SHFM3|SHSF3 F-box and WD-40 domain protein 4|F-box and WD-40 domain-containing protein 4|F-box/WD repeat protein 4|F-box/WD repeat-containing protein 4|OTTHUMP00000020341|dactylin protein-coding 1345122 FBXW4P1 F-box and WD repeat domain containing 4 pseudogene 1 14702039,10531037,10531035,10405324,9635407,7665185,6319012,15070733 26226 AI432341,AK314175,BP385887,BX091573,NR_033408,AP000343,U07000,AF174606,AK024483 AAB60391,AAF04527,BAB15773,Q12845,Q9H7J7 Hs.517461 FBW3|FBXW3|FLJ94893|SHFM3P1 pseudo 1313822 FBXW5 F-box and WD repeat domain containing 5 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq] 15070733,18381890,16189514,15498874,15489334,15164053,14702039,12477932,10531037,10531035,18765672,19232515,19615732,20237496 54461 AL807752,NM_018998,CH471090,AB209726,AF217998,AF258569,AK026081,AL137631,BC000850,BC004541,BC009429,BC014130,BC014297,BC031100,BC035355,BI829307,CR601073,CR607375,CR620078,AK315738 CAI12741,CAI12743,CAI12744,CAI12746,NP_061871,EAW88307,EAW88308,EAW88309,EAW88310,EAW88311,EAW88312,EAW88313,EAW88314,EAW88315,BAD92963,AAG17240,AAG23772,BAB15354,BAG38093,CAB70851,AAH00850,AAH04541,AAH09429,AAH14130,AAH14297,Q59ET5,Q5SQ00,Q969U6 Hs.522507 DKFZp434B205|Fbw5|MGC20962|RP11-229P13.10 F-box and WD-40 domain protein 5|F-box and WD-40 domain-containing protein 5|F-box/WD repeat-containing protein 5|WD repeat-containing F-box protein FBW5 protein-coding 1347453 FBXW7 F-box and WD repeat domain containing 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 1580863 15917200,17434132,17558397,19111882,19170196,19587092,19625176,19635999,19679664,19692168,19739118,19847202,20332316,20484041,20388706,15980150,20826802,20861909,20638938,20534483,16818231,20852628,15070733,17157259,12354302,19420964,19366810,19351817,19340001,19245433,19124506,19109228,19084516,18938137,18931460,18787170,18784078,18765672,18676680,18660489,18625840,18559665,18541364,18485478,18428053,18414042,18391985,18094723,17992009,17909001,17873522,17646409,17646408,17588203,17320938,17274947,16938571,16863506,16344560,16210249,16169070,16054087,16023596,15611062,15498494,15489334,15467469,15150404,15103331,14999283,14871801,14743216,14739463,14702039,14648662,14603323,14536078,14507635,12628165,12477932,12183400,11585921,11565034,11565033,11533444,11461910,11425854,10531037,9373149,8125298,7829101,18198341,20622901,20448329,20861920,20944675,20338046,20589678,20683149,20558726,20815813 55294 NM_033632,NM_001013415,NM_018315,AC023424,AC080078,CH471056,AB209725,AF383178,AF411971,AF411972,AK001933,AK131383,AK223449,AK294568,AK299722,AK315142,AW965611,AY008274,AY033553,AY049984,BC037320,BC059373,BC117244,BC117246,BC143944,BF514288,BI496455,BX498391,CR749305,W39194,DA321362 NP_361014,NP_001013433,NP_060785,EAX04977,EAX04978,EAX04979,BAD92962,AAK60269,AAL06290,AAL06291,BAA91986,BAD97169,BAH11814,BAH13109,AAG16640,AAK57547,AAL07271,AAH37320,AAI17245,AAI17247,AAI43945,CAH18160,Q53F40,Q59ET6,Q969H0,ADR83102 Hs.561245 AGO|CDC4|DKFZp686F23254|FBW6|FBW7|FBX30|FBXO30|FBXW6|FLJ16457|SEL-10|SEL10 F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)|F-box and WD-40 domain-containing protein 7|F-box protein FBW7|F-box protein FBX30|F-box protein SEL-10|F-box/WD repeat-containing protein 7|archipelago homolog|archipelago, Drosophila, homolog of|f-box and wd-40 domain protein 7 (archipelago homolog, drosophila)|hAgo|hCdc4|homolog of C elegans sel-10 protein-coding 1314415 FBXW8 F-box and WD repeat domain containing 8 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 15070733,17314511,16142236,19297328,17998335,15489334,14702039,12481031,12477932,10531037,10531035,17205132 26259 NM_153348,NM_012174,AC026368,AC083806,AC127164,CH471054,AF176707,AK055849,AK289621,BC037296,BC045190,CR621935 NP_699179,NP_036306,EAW98094,EAW98095,EAW98096,EAW98097,AAF03129,BAF82310,AAH37296,Q8N3Y1 Hs.624537,Hs.696428 FBW6|FBW8|FBX29|FBXO29|FBXW6|MGC33534 F-box and WD-40 domain protein 8|F-box and WD-40 domain-containing protein 8|F-box only protein 29|F-box/WD repeat-containing protein 8|f-box and wd-40 domain protein 8 protein-coding 1315938 FBXW9 F-box and WD repeat domain containing 9 Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 16344560,15520277,15489334,12477932,19159283,19615732 737633 84261 NM_032301,AC018761,CH471106,AK123037,AW083348,AY736034,BC004290,CR591156,CR595818,CR606148,CR608192,CR614519,CR618672,CR618836,DA079240,AK302744 NP_115677,EAW84295,EAW84296,EAW84297,BAG53859,AAU50678,Q5XUX1,AAI60094,BAG63958 Hs.515154 Fbw9|MGC10870 F-box and WD-40 domain protein 9|F-box and WD-40 domain-containing protein 9|F-box and WD-40 repeat containing protein 9|F-box/WD repeat-containing protein 9|f-box and wd-40 domain protein 9|specificity factor for SCF ubiquitin ligase protein-coding 1605024 FCAMR Fc receptor, IgA, IgM, high affinity 8145026,19393604,19338768,18379868,15203218,12477932,11779189,11062505,19682689,19945166,20059578,20379614 83953 NM_032029,NM_001122979,AC098935,CH471100,E15470,AF354295,AI478563,AK298394,AY063125,AY063126,BC109263,BC109264,BX090153,CD633520,DC361666,AI269147,NM_001170631 NP_114418,NP_001116451,EAW93513,EAW93514,AAK39522,BAG60629,AAL51154,AAL51155,AAI09264,AAI09265,Q8WWV6,NP_001164102 Hs.145519 FCA/MR|FKSG87 Fc alpha/mu receptor|high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor|immunity related factor|receptor for Fc fragment of IgA and IgM protein-coding 1344251 FCAR Fc fragment of IgA, receptor for This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 20811333,18029348,18768864,19497711,19555692,19859085,19892918,20237496,21037509,10835685,2258698,19023099,18700185,17975119,17548632,17393381,17339498,17033823,17008591,16990604,16876821,16627486,16293625,15564774,15555551,15489335,15489334,15371488,15085135,14759258,12791088,12783876,12768205,12634059,12594283,12560105,12524384,12477932,11929131,11801662,11478396,11281451,10438530,10380711,10359575,9427690,9367406,8954257,8943858,8917112,8836118,8666916,8666819,8575829,8530370,8408621,7636188,7522255,1577457,8145026 2204 CU151839,EF064738,X87765,X87766,X87767,X87769,AK290922,BC027953,CV029531,D87853,D87854,D87855,D87856,D87857,D87858,D87859,D87860,D87861,D87862,DQ075334,DQ075335,DQ075336,DQ075337,DQ075338,DQ075339,S82919,U43677,U43774,U56236,U56237,X90753,X92558,X92559,X92560,X92561,X92562,NM_133269,NM_133271,NM_133272,NM_133278,NM_133274,NM_133273,NM_133277,NM_133279,AB071193,AC011501,AF091543,AF091544,CH471135,NM_002000 EAW72300,EAW72301,EAW72302,EAW72303,EAW72304,EAW72305,EAW72306,EAW72307,CAQ09202,CAQ09203,CAQ09204,CAQ09206,CAQ09207,CAQ09208,CAQ09209,CAQ09210,CAQ09211,ABK41921,CAA61039,BAF83611,AAH27953,BAA13471,BAA13472,BAA13473,BAA13474,BAA13475,BAA13476,BAA13477,BAA13478,BAA13479,BAA13480,AAZ76577,AAZ76578,AAZ76579,AAZ76580,AAZ76581,AAZ76582,AAD14421,AAC50595,AAC50639,AAB00566,AAB00567,CAA62276,P24071,Q53X39,Q92587,Q92588,Q92589,Q92591,Q92592,EAW72299,NP_001991,NP_579803,NP_579805,NP_579806,NP_579812,NP_579808,NP_579807,NP_579811,NP_579813,BAB64914,EAW72291,EAW72292,EAW72293,EAW72294,EAW72295,EAW72296,EAW72297,Q9UEK0,ABM81861,ABM85024,EAW72298,Q92593 Hs.659872 CD89 Fc alpha receptor|IgA Fc receptor|immunoglobulin alpha Fc receptor protein-coding 736318 FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide The IgE receptor plays a central role in allergic disease, coupling allergen and mast cell to initiate the inflammatory and immediate hypersensitivity responses that are characteristic of disorders such as hay fever and asthma. The allergic response occurs when 2 or more high-affinity IgE receptors are crosslinked via IgE molecules that in turn are bound to an allergen (antigen) molecule. A perturbation occurs that brings about the release of histamine and proteases from the granules in the cytoplasm of the mast cell and leads to the synthesis of prostaglandins and leukotrienes--potent effectors of the hypersensitivity response. The IgE receptor consists of 3 subunits: alpha, beta (MIM 147138), and gamma (MIM 147139); only the alpha subunit is glycosylated.[supplied by OMIM] 1580863,704404 20141544,20691829,20126404,20523060,2964640,1535625,19514647,19494509,19372141,19359220,19258923,19245427,19150851,19082920,18846228,18680511,18595682,18523286,18394141,18382690,18356810,18321309,18187193,18179824,18036650,17993265,17965580,17903293,17883736,17703412,17686114,17541278,17521040,17430357,17267694,17165285,17125826,16709862,16581830,16563391,16339523,16237063,16081836,15743766,15696081,15562891,15489334,15373772,15217825,15140034,14746805,14655898,13129935,12902495,12897750,12855579,12671054,12646639,12477932,12270716,12217383,12200378,12070183,11776381,11531339,11409901,10917520,8752908,8613143,8245459,8125119,2967464,2146219,16459334,1533243,1472946,8900182,20603037,20664273,18726713,19141351,19164348,19385959,19423540,19555572,19685047,19748979,20028371,20117843,20163202,20237496,20406964,20410486,20438785,20503287 2205 NM_002001,A21606,AB059236,AL513323,CH471121,L14075,BC005912,BC015185,BC015195,J03605,X06948,CS544001 NP_001992,CAA01564,BAB84120,CAI15596,CAI15597,EAW52789,AAA16115,AAH05912,AAH15195,AAA36204,CAA30025,P12319,Q6GU38,Q8WYP6,ABM84057,ABM87410,ABM87466,CAN36268 Hs.897 FCE1A|FcERI Fc IgE receptor, alpha polypeptide|Fc epsilon RI alpha-chain|Fc-epsilon RI-alpha|OTTHUMP00000035287|OTTHUMP00000035288|fc receptor, ige, high affinity i, alpha polypeptide|high affinity immunoglobulin epsilon receptor alpha-subunit|high affinity immunoglobulin epsilon receptor subunit alpha|igE Fc receptor subunit alpha|immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide protein-coding 736226 FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq] 1580863,704404 19913121,20628086,9280292,11788586,1535625,9028946,9295288,19362683,18534082,18378679,18292514,17850179,17430357,16710414,15778339,12836193,12626537,12477932,12366784,11980568,11898918,11388899,10825177,10469124,10194433,10049942,8752908,8071371,2146219,10942756,2138619,20126404,11943772,19423540,20028371,20237496,20406964,20438785 2207 HC460416,NM_004106,AL590714,CH471121,M33196,AK307102,BC033872,M33195 CBK51078,NP_004097,CAH72149,EAW52623,EAW52624,AAH33872,AAA35828,P30273,ABM81708,ABW03303 Hs.433300 FCRG fc receptor, ige, high affinity i, gamma polypeptide|fc-epsilon RI-gamma|fceRI gamma|high affinity immunoglobulin epsilon receptor subunit gamma|igE Fc receptor subunit gamma|immunoglobulin E receptor, high affinity, gamma chain protein-coding 1354370 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) The human leukocyte differentiation antigen CD23 (FCE2) is a key molecule for B-cell activation and growth. It is the low-affinity receptor for IgE. The truncated molecule can be secreted, then functioning as a potent mitogenic growth factor.[supplied by OMIM] 1580863 20831712,2529542,7544003,19290077,19258923,18697825,18636124,18616759,18568448,18183502,18032710,17980418,17703412,17635803,17576766,17570115,17540777,17493235,17301828,16899715,16896156,16831589,16765898,16344560,16172256,16143132,16083870,16009564,15883744,15843555,15795251,15621797,15569053,15565166,15489334,15469741,15272865,12777399,12731041,12576441,12477932,12456589,12379312,12127555,12127553,12070780,12022472,12002758,11920534,10037797,9680363,9373149,8766552,8745401,8552454,8432525,8142907,8125298,7621072,7515913,3034567,2972386,2949326,2877743,1717997,1446976,1417742,1387715,11500085,12853962,12149502,8450224,20805040,18657051,19170196,19223373,19423540,19635918,19663668,19805542,19845913,20237496,20406964,20438785,20503287 2208 NM_002002,AC008763,CH471139,M23562,S81115,AK223207,AK310071,AK310707,BC014108,BC027879,BC062591,BC064417,DA957269,DB333832,M14766,M15059,X04772 NP_001993,EAW69004,EAW69005,EAW69006,EAW69007,EAW69008,EAW69009,EAW69010,EAW69011,AAA52433,AAB35926,BAD96927,AAH14108,AAH62591,AAA52435,AAA52434,CAA28465,P06734,Q30219,ABW03476,ABM83161 Hs.465778 CD23|CD23A|CLEC4J|FCE2|IGEBF BLAST-2|C-type lectin domain family 4 member J|C-type lectin domain family 4, member J|CD23 antigen|fc fragment of ige, low affinity ii, receptor for (cd23a)|fc-epsilon-RII|immunoglobulin E-binding factor|low affinity immunoglobulin epsilon Fc receptor|lymphocyte IgE receptor protein-coding 1322068 FCF1 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) 16762320,15635413,15198809,14702039,12508121,12477932,11230166,10810093 51077 NM_015962,AC007956,CH471061,AF132969,AK021636,AK057060,AK290666,BC022361,BC080600,BX248271,BX489015,BX647810,CR598081 NP_057046,EAW81187,EAW81188,EAW81189,EAW81190,EAW81191,EAW81192,EAW81193,AAD27744,BAF83355,AAH80600,CAD62599,CAJ18322,Q4FZ45,Q66K47,Q9Y324 Hs.579828,Hs.711584 Bka|C14orf111|CGI-35|MGC99629 chromosome 14 open reading frame 111|rRNA-processing protein FCF1 homolog protein-coding 1350128 FCGBP Fc fragment of IgG binding protein 19432394,18029348,16740002,16341674,16335952,15203218,15084671,15057824,12208673,11600203,9182547,8889548,1984453,19956635,20237496 8857 BQ065661,NM_003890,AC006950,AC007842,AC011536,CH471126,BE294466,BM781647,BU731683,BX113070,CD617655,D84239 NP_003881,AAD15624,AAD39266,EAW56926,BAA19526,Q9Y6R7 Hs.111732 FC(GAMMA)BP Human Fc gamma BP|IgG Fc binding protein|IgGFc-binding protein|fcgamma-binding protein antigen|fcgammaBP protein-coding 1320511 FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq] 1300184,1580863 7516890,2974947,2911749,2852656,1837149,1830050,1430234,1402657,1379234,9490697,18798798,19144150,19635920,19833736,20071662,20080725,20109752,20306688,20418097,18974296,18023480,7687898,18322202,10879688,19250681,19011162,18941257,18826388,18606652,18604302,18321309,18320015,18279703,18207250,18071883,18063701,17827066,17764536,17621550,17511516,17124586,17005690,16603696,16140266,15883031,15878871,15528366,15340161,15252450,15251320,15229321,15087090,15007079,14728877,12830330,12756162,12581186,12524384,12477932,12471137,12377934,12217397,12200451,12130529,12006325,11714794,11708889,11359830,11141335,10933786,10781611,10421785,9842885,9820532,9763663,8697799,8530370,8270248,8064233 1300184 2209 NM_000566,NG_007578,AL591493,M63830,M63831,M63832,M63833,M63834,M63835,M91555,S45709,AK291451,AK291502,BC032634,BC152383,CR591922,CR608315,CR622515,DC320241,DQ786309,L03418,X14355,X14356 NP_000557,CAI12557,AAA35678,AAA58414,AAD13842,BAF84140,BAF84191,AAH32634,AAI52384,AAA36049,CAA32536,CAA32537,P12314,ABM81768,ABM84923,CAI12556 Hs.77424 CD64|CD64A|FCRI|FLJ18345|IGFR1 Fc fragment of IgG, high affinity Ia, receptor for (CD64)|Fc gamma receptor|Fc-gamma RI|Fc-gamma receptor I A1|IgG Fc receptor I|OTTHUMP00000037678|fc fragment of igg, high affinity ia, receptor for (cd64)|fc-gamma RIA|fcgammaRIa|high affinity immunoglobulin gamma Fc receptor I protein-coding 1349361 FCGR1B Fc fragment of IgG, high affinity Ib, receptor (CD64) 1300184 1430234,19330030,17124586,12766061,12477932,11802953,9763663,1830050,1379234,8697799 1300184 2210 NM_001004340,NM_001017986,AL357493,AK311502,BC110416,L03419,L03420,AK308886 NP_001004340,NP_001017986,CAI14143,CAI14144,CAI14145,AAA35825,AAA35826,Q92637,AAI56865 Hs.534956 CD64|IGFRB Fc fragment of IgG, high affinity Ib, receptor for (CD64)|Fc gamma receptor I|Fc-gamma receptor I B2|fc-gamma RIB|fcRIB|hFcgammaRIB|high affinity immunoglobulin gamma Fc receptor IB|igG Fc receptor IB protein-coding 1352648 FCGR1C Fc fragment of IgG, high affinity Ic, receptor (CD64) The gene represents one of three related immunoglobulin gamma Fc receptor genes located on chromosome 1. This family member lacks the transmembrane and coiled-coiled domains found in other family members and is thought to be a pseudogene of Fc-gamma-receptor 1A. [provided by RefSeq] 1300184 16710414,16344560,11708889,9881690,9763663,8697799,7566098,1379234 1300184 100132417 NR_027484,AL109948,M91647,BF061349,CA748521,DA463656,EB386870,T29148 A6NKC4 Hs.77424,Hs.534956,Hs.635062 CD64|FCRIC|IGFR1|IGFRC pseudo 1316933 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,2316290,4144121,4144095 19913121,20542180,20550522,20551103,20585032,20588308,20628086,20634666,20644561,20697800,20705761,20707220,19309690,19420354,19423540,19497711,19573080,19640933,19664613,19672774,19692168,19720214,19773279,19776239,19892918,19898481,19915573,19926792,19933905,19965803,20007585,20034444,20047592,20054293,20148910,20149216,20154205,20207250,20215002,20228799,20237496,20367096,20406964,20438785,20439102,20439936,20453000,20508037,20519616,9280292,9295288,20720565,16356189,16277670,16221721,16200626,16198451,16185324,16177087,16169188,16160618,16150646,16133986,16110781,16107886,16005880,15946259,15910853,15878871,15833371,15744239,15742161,15735807,15675264,15583733,15535834,15483014,15457442,15371685,15369725,15367919,15351857,15319871,15251320,15217834,15194692,15194589,15191947,15190804,15171001,15166534,15153543,15152814,15140146,15004265,14976391,14761117,14740869,11528518,11480843,11398118,11263776,11237133,11229467,11145038,11110978,11099670,10781611,10704522,10675363,10397151,10382761,10331870,9373149,9268059,8940017,8756631,8636449,8631888,8125298,3402431,2971615,2967437,2965389,2824655,2531919,2529342,2527651,2526077,1379234,9490697,11141335,14651519,14641546,14597109,14514134,12960360,12893767,12871511,12867584,12864991,12858454,12857726,12847687,12834496,12832410,12830330,12752683,12729187,12710759,12690104,12643213,12626795,12571856,12508778,12501257,12493400,12492589,12486608,12477932,12447772,12421634,12393699,12390315,12363051,12215902,12176802,12121275,12115187,12095061,12064825,12027254,11976734,11953994,11937562,14734773,11913983,11835346,11812402,11740730,11699473,11561111,17785206,18029348,2139735,19494328,19494086,19490059,19480687,19372459,19357503,19331818,19284648,19262684,19235048,19232413,19201892,19197137,19184295,19164213,19140833,19129718,19127818,19100392,19088437,19055599,19040302,19026120,19012493,18957413,18936436,18930989,18843786,18832675,18793404,18641368,18636124,18633131,18539895,18535921,18474295,18418394,18372357,18349392,18347005,18337560,18311806,18204446,18194515,18180796,18165525,18071035,18052703,18025239,18022136,17921137,17877745,17848620,17845308,17710620,17704420,17673295,17665457,17652100,17650444,17642530,17606457,17596285,17594928,17588661,17587350,17582430,17523948,17335370,17324336,17315188,17291475,17142741,17134755,17092257,17092253,17046568,17020818,17018637,17005690,16893392,16889631,16880255,16846526,16846215,16805673,16785568,16751395,16709925,16682723,16606986,16569263,16551965,16550341,16542359,16511922,16421008,20356573,20736173,20568250,20716621,20802378,20848524,20848568,20881011,20929558,20935224,20973705,21042730,21044892,21048031,21054877 2316290,4144121,4144095 2212 NM_001136219,NM_021642,NG_012066,A21604,AL590385,AF416711,AI250177,AK225438,AK225601,AK226059,AK298657,AK298734,AK315225,BC019931,BC020823,CR593871,J03619,M28697,M31932,X62572,Y00644 NP_001129691,NP_067674,CAA01563,CAI16118,CAI16119,AAL78867,BAH12840,BAH12860,BAG37654,AAH19931,AAH20823,AAA35932,AAA36050,AAA35827,CAA68672,P12318,Q8TEX8,ABM82963,ABM86154 Hs.352642 CD32|CD32A|CDw32|FCG2|FCGR2|FCGR2A1|FcGR|IGFR2|MGC23887|MGC30032 Immunoglobulin G Fc receptor II|fc fragment of igg, low affinity iia, receptor for (cd32)|fc-gamma RII-a|fc-gamma-RIIa|fcRII-a|igG Fc receptor II-a|low affinity immunoglobulin gamma Fc region receptor II-a protein-coding 1346227 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) 1580863 20588308,20542180,11567028,17474147,2142460,11955599,2139735,19640933,19549396,19502269,19497711,19309690,19284648,19261857,19005878,18957413,18832691,18798552,18721908,18705654,18654664,18633424,18625651,18347005,18182380,17873550,17521421,17502666,17435165,17335370,17142741,17133600,17133580,17130130,17077019,17020818,16934243,16923849,16818279,16785568,16757681,16710414,16603696,16600368,16551965,16531013,16406061,16356189,16227149,16170323,16115811,16051361,15946259,15914856,15883031,15566359,15506939,15489334,15459183,15153543,15081531,15077320,14651519,14647193,14613290,12858454,12830330,12753656,12729187,12516568,12486608,12477932,12471137,12438452,12115230,11741917,11576217,11423173,11359830,11238632,11123333,10789675,10064577,9516136,9227318,8756631,8466861,7716523,7649565,3402431,2531080,2529342,2526077,9490697,8940017,10382761,20736173,20850384,20399509,16169070,18798798,19672774,19720214,19734236,19946017,20154205,20237496,20385827,20439936,20507212,20508037,9148918 2213 NG_023318,U87561,U87562,U87563,U87564,U87565,U87566,U87567,U87568,U87569,U87570,U87571,U87572,U87573,U87574,U87575,U87576,U87577,X17653,X52473,X62573,EF064736,AB050934,AB051387,AB209585,AF543826,AI692546,AK308150,BC031992,BC141826,BC146678,BC148273,CB988406,CR407635,CR590408,CR590610,CR592864,CR593201,CR593693,CR606721,CR607206,CR608780,CR610288,CR611092,CR617159,H04104,M28696,M31933,M31934,M31935,NM_004001,NM_001002274,NM_001002275,NM_001002273,AB060143,AB060144,AB060145,AB060146,AB060147,AB060148,AB060149,AB060150,AL451067,CH471067,U87560,AW452813,DC381078,NM_001190828 CAM15151,CAM15152,CAM15153,AAD00627,AAD00628,AAD00629,AAD00630,AAD00631,AAD00632,AAD00633,AAD00634,AAD00635,AAD00636,AAD00637,AAD00638,AAD00639,AAD00640,AAD00641,AAD00642,AAD00643,AAD00644,CAA35644,CAA36713,P31994,Q8IU78,Q8IU79,Q8IXE8,Q8IXE9,Q8NIA0,EAW90679,EAW90680,EAW90681,EAW90682,ABK41919,BAB92093,BAB92094,BAD92822,AAQ11739,AAH31992,AAI41827,AAI46679,AAI48274,CAG28563,AAA36051,AAA35841,AAA35842,AAA35843,NP_003992,NP_001002274,NP_001002275,NP_001002273,BAC54013,BAC54014,BAC54015,BAC54016,BAC54017,BAC54018,BAC54019,BAC54020,ABM85451,NP_001177757 Hs.713617,Hs.654395 CD32|CD32B|FCG2|FCGR2|IGFR2 CDw32|Fc fragment of IgG, low affinity II, receptor for (CD32)|Fc fragment of IgG, low affinity IIb, receptor for (CD32)|Fc gamma RIIb|fc-gamma RII-b|fc-gamma-RIIb|fcRII-b|igG Fc receptor II-b|low affinity immunoglobulin gamma Fc region receptor II-b protein-coding 1607080 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. This gene is thought to be the result of an unequal crossover event between the Fc gamma receptor IIA and IIB genes. 17474147,17785206,2531080,19309690,17827395,16344560,15342556,12477932,12215903,9516136,8463268,20237496,20439936,20508037,20228799 9103 U90940,U90941,X17652,NM_201563,NG_011982,AB062416,AF433951,AL451067,AA416937,AK307162,AK308168,BC137397,BC137423,BP320976,DA851200,DA859515,U90938,U90939 AAC12809,AAC12810,CAA35642,P31995,Q8IZV7,Q8NI89,ABM82270,NP_963857,BAB92095,AAN14522,AAI37398,AAI37424,AAC12807,AAC12808 Hs.713617,Hs.352642 CD32|CD32C|CDW32|FCG2|FCRIIC|IGFR2 Fc gamma receptor IIC|IgG Fc receptor II-c|OTTHUMP00000220977|fc-gamma-RIIc|immunoglobulin G Fc receptor II-c|low affinity immunoglobulin gamma Fc region receptor II-c protein-coding 736450 FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1598927,1598928 15144186,15778339,19283441,19309690,19320901,19333136,19640933,19700393,19758217,19843059,19892918,19933905,19946017,20018222,20047592,20059375,20137370,20138184,20149216,20185670,20207982,20333387,20379614,20400988,20418097,20439102,20439936,20508037,8945479,20560817,18787406,20730791,2138330,11955599,19493236,19342628,19221562,19180470,19164213,19140833,19100392,19026120,19019892,19018870,19005160,18979096,18930989,18843786,18804983,18768879,18768831,18715866,18664531,18636124,18625651,18565259,18556407,18475309,18452102,18372357,18349392,18347005,18199088,18174382,18052703,18050249,17922423,17899539,17878347,17710620,17704420,17652100,17650444,17606457,17600378,17596285,17594928,17523948,17475906,17475889,17457599,17335370,17324336,17265480,17202140,17108815,16981896,16934243,16846526,16716162,16709862,16682723,16609067,16550341,16542359,16356189,16344560,16330541,16310791,16277670,16221721,16181633,16160618,16142749,16133986,16110781,15998631,15946259,15910853,15833371,15767342,15659493,15535834,15526004,15483014,15457442,15299021,15269840,15217834,15194589,15191947,15188374,15153543,15152814,15037082,14987319,14740435,14651519,14597109,14526422,14563637,12864991,12858454,12847896,12834496,12830330,12756162,12734884,12710759,12649399,12631364,12626795,12618859,12501257,12492589,12486608,12477932,12447772,12445195,12393699,12379528,12176802,12121275,12064825,12036208,12027254,11986321,11895784,11884455,11850593,11835346,11808760,11806974,11756173,11740730,11722422,11699473,11696221,11528518,11359830,11263776,11229467,11145038,11037893,11034564,11022771,9743356,9378963,9373149,8940055,8609432,8405050,8258691,8157290,8125298,7836402,7819147,7700021,7543538,7516890,2967436,2526846,2525780,2521732,2478590,2146219,2139735,11027634,10961879,9276722,9242542,19913121,20542180,20550522,20551103,20628086,20644561,20664961,20697800,20705761,20707220,20723308,17207965,20553754,20102624,20848524,20935224,20980704,21036743,21042730 1598927,1598928 2214 NM_001127593,NM_001127595,NM_001127596,NM_000569,NM_001127592,NG_009066,AB032414,AF162790,AL590385,Z46222,AK223268,AK223295,AK302126,BC017865,BC033678,BC036723,BI768140,CR599546,CR604666,CR614832,CR616259,DA674960,DA933259,DA944383,DA957430,M24853,S76824,X52645,HC728087 NP_001121065,NP_001121067,NP_001121068,NP_000560,NP_001121064,BAA86888,AAD48438,CAI16122,CAI16123,CAO03439,CAO03440,CAA86295,BAD96988,BAD97015,BAG63503,AAH17865,AAH33678,AAH36723,AAA53506,AAB33925,CAA36870,P08637,Q9ULV2,Q9UN20,ADQ31624,CBL93996 Hs.372679 CD16|CD16A|FCG3|FCGR3|FCGRIII|FCR-10|FCRIII|FCRIIIA|IGFR3 CD16a antigen|Fc fragment of IgG, low affinity III, receptor for (CD16)|Fc gamma receptor III-A|Fc-gamma RIII-alpha|Fc-gamma RIIIa|Fc-gamma receptor III-2 (CD 16)|Fc-gamma receptor IIIb (CD16)|FcgammaRIIIA|OTTHUMP00000196093|OTTHUMP00000196094|fc receptor, igg, low affinity iii|fc-gamma RIII|igG Fc receptor III-2|immunoglobulin G Fc receptor III|low affinity immunoglobulin gamma Fc region receptor III-A|neutrophil-specific antigen NA protein-coding 1347412 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 1580863 16467081,16356189,16344560,16171455,16160618,16155708,16133986,16110781,15974849,15946259,15934433,15910853,15889368,15833371,15783303,15713217,15526004,15500735,15457442,15369725,15245367,15194589,15152814,14761117,14740435,14651519,14634123,14597109,12898191,12867584,12864991,12858454,12839649,12834496,12830330,12753656,12710759,12501257,12486608,12477932,12447772,12445195,12421634,12393699,12176802,12121275,12115243,12076295,12064825,12027254,11897993,11835346,11740730,11699473,11528518,11379895,11099670,11034564,11021536,10917521,9743356,9028335,8940055,7836402,2967436,2139735,19502269,19342628,19317341,19218011,19201911,19100392,19026120,18843786,18559452,18452102,18408222,18372357,18156711,18052703,17847104,17710620,17596285,17584599,17529978,17523948,17335370,16899095,16889631,16805673,16598772,16550341,16542359,16482158,19309690,19320901,19497711,19640933,19720214,19741716,19892918,19946017,19946035,20041976,20133350,20149216,20300756,20367096,20379614,20439936,20442749,20472591,20508037,20536598,20720565,2525780,2521732,11359830,15688433,20356573,19913121,20628086,20707220,2526846,20364047,20664961,20924590,20957197,20980704 2215 AL451067,Z46223,AB025256,AJ581669,AK313219,AK316565,BC128562,DA672763,J04162,M24854,X07934,X16863,NM_000570 O75015,Q9ULV2,Q9UPY7,NP_000561,CAA86296,BAA83803,CAE46408,BAG38154,AAI28563,AAA35881,AAA53507,CAA30758,CAA34753,CAM15149,CAM15150 Hs.694258 CD16|CD16b|FCG3|FCGR3 Fc fragment of IgG, low affinity IIIb, receptor for (CD16)|Fc-gamma receptor IIIb (CD 16)|OTTHUMP00000082739|OTTHUMP00000082740|fc-gamma RIII|fc-gamma RIII-beta|fc-gamma RIIIb|fcR-10|fcRIII|fcRIIIb|igG Fc receptor III-1|low affinity immunoglobulin gamma Fc region receptor III-B protein-coding 736100 FCGRT Fc fragment of IgG, receptor, transporter, alpha This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,704404 20592032,19451275,17384151,7964511,19462839,18843053,18684948,18637944,18599440,18566411,18003977,19275696,19164298,17709515,17703228,17674040,17048273,17046328,16849638,16805790,16549777,16303743,16229888,15689494,15654966,15644205,15489334,15340161,15258288,14767057,14764666,14630397,12972260,12885906,12566415,12538789,12477932,12144784,12023961,12006623,11717196,11207281,10998088,10933786,9493268,9439449,8871627,8646894,8145026,20139978,20627700,19362735,19423540,19772792,20006594,20018855,20083659,20406964,20438785,20452034 2217 BI520292,NM_004107,AC010619,AF200220,AF220542,AF453513,AF453514,AF453515,AF453516,AF453517,CH471177,EF064735,AK074734,AK075510,AK075532,AK299124,BC008734,BC020421,BC091487,BE245284,NM_001136019,BX647163,CR591612,CR593355,CR596557,CR596606,CR596741,CR597151,CR599170,CR599433,CR603961,CR604068,CR606505,CR609370,CR609658,CR614236,CR616651,CR617299,CR622710,CR622853,CR622938,CR625984,CR626812,CR626832,BT006828,DC312637,U12255 NP_001129491,NP_004098,AAG31421,AAF72596,AAM27922,AAM27923,AAM27924,AAM27925,AAM27926,EAW52498,EAW52499,EAW52500,ABK41918,BAG52159,BAG52164,BAH12955,AAH08734,CAI46032,AAP35474,AAA58958,P55899,Q8N166,ABM84470,ABM84734 Hs.111903 FCRN|alpha-chain FcRn alpha chain|IgG Fc fragment receptor transporter alpha chain|IgG receptor FcRn large subunit p51|fc receptor, igg, alpha chain transporter|immunoglobulin receptor, intestinal, heavy chain|major histocompatibility complex class I-like Fc receptor|neonatal Fc receptor|neonatal Fc-receptor for Ig protein-coding 1317013 FCHO1 FCH domain only 1 737633 17617719,16344560,15761153,15489334,12477932,9179496,16169070,19713939,20448150 737633 23149 BC028021,BC041130,BI756664,BQ433639,CR597235,CR603801,CR620485,CR625849,DB158605,NM_001161357,NM_001161358,NM_001161359,AC008761,CH471106,AB006628,AK291410,AK303623,AK309403,AK316458,NM_015122 BAH14829,AAH28021,AAH41130,O14526,NP_055937,NP_001154829,NP_001154830,NP_001154831,EAW84628,EAW84629,EAW84630,BAA22959,BAF84099,BAG64632 Hs.96485 KIAA0290 FCH domain only protein 1 protein-coding 1348405 FCHO2 FCH domain only 2 737633 17540576,16964243,16381901,15489336,15489334,15372022,15254787,14702039,12477932,11230166,11076863 737633 115548 NM_138782,NM_001146032,AC008972,AC020893,AC020942,CH471084,AK291782,AK293796,AK295141,AL831971,AL832928,AL833313,BC006004,BC014311,BC137070 NP_620137,NP_001139504,EAW95716,BAF84471,BAG57208,BAG58162,AAH06004,AAH14311,AAI37071,Q0JRZ9,CAL38169 Hs.726254 FCH domain only protein 2|OTTHUMP00000222418 protein-coding 1317900 FCHSD1 FCH and double SH3 domains 1 15815621,15489334,15067381,14980202,14702039,12975309,12477932,11214971,19913121,20628086,19041431,20379614 89848 NM_033449,AC008781,AC022420,CH471062,AF086518,AK000007,AK027281,AY217346,AY358478,BC047016,AK126203 NP_258260,EAW61908,EAW61909,EAW61910,BAA92232,AAO45099,AAQ88842,AAH47016,Q86WN1 Hs.591257 FLJ00007|NWK2 FCH and double SH3 domains protein 1|nervous wreck homolog 2 protein-coding 1312475 FCHSD2 FCH and double SH3 domains 2 14627983,16554811,16189514,15489334,15067381,14980202,12477932,9872452,9873,15101818,18654987,20379614 9873 NM_014824,AP002381,AP002455,AP004241,CH471076,AB018312,AK128381,AK296376,AK297928,AL080236,AL133567,BC010394,BC017751,BQ007622,CD358961 NP_055639,EAW74880,EAW74881,BAA34489,BAG59050,BAG60245,CAB63720,AAH10394,AAH17751,O94868 Hs.577053 KIAA0769|NWK|SH3MD3 FCH and double SH3 domains protein 2|OTTHUMP00000203055|OTTHUMP00000203072|OTTHUMP00000203073|SH3 multiple domains 3|SH3 multiple domains protein 3|carom|nervous wreck homolog protein-coding 1351597 FCN1 ficolin (collagen/fibrinogen domain containing) 1 The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq] 1580863 21037097,8576206,18029348,18343499,18032536,17938215,17928056,17148457,16305643,15489334,15340161,15117939,12624729,12477932,10679061,9777405,9202708,8947836,8884275,8573080,7686157,20400674,20375634,19539995,19741154,19853918,20032467,20237496 2219 NM_002003,AL353611,CH471090,D63394,AK314867,BC020635,CR615246,D83920,CR749452,HH958039,BG482630 NP_001994,CAH73911,EAW88137,EAW88138,EAW88139,EAW88140,BAA09707,BAG37382,AAH20635,CAH18289,BAA12120,O00602,Q5VYV5,Q68DD1,Q92531,ABM82352,ABM85362,CBX51283 Hs.440898 FCNM M-ficolin|collagen/fibrinogen domain-containing protein 1|ficolin (collagen/fibrinogen domain-containing) 1|ficolin-1|ficolin-A|ficolin-alpha protein-coding 1350900 FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20593422,20682603,8576206,12421953,19434912,19220833,19199537,19109177,18950864,18486240,18032536,17680820,17386030,17382393,17215869,16839748,16820685,16076493,15331601,14707097,14702039,14660572,12477932,11446374,10232391,9777405,9202708,8884275,7498469,19632990,19664148,19728924,19767106,20237496,20937340 2220 NM_004108,NM_015837,NG_011649,AL603650,CH471090,D63160,DQ217935,AI052239,AK096112,AK290843,AK308476,BC069572,BC069825,BC113935,D49353 NP_004099,NP_056652,CAI39861,EAW88133,EAW88134,EAW88135,EAW88136,BAA09636,ABB01005,BAF83532,AAH69825,AAI13936,BAA08352,Q14CE6,Q15485,Q3B834,AAH69572 Hs.54517 EBP-37|FCNL|P35|ficolin-2 37 kDa elastin-binding protein|L-ficolin|collagen/fibrinogen domain-containing protein 2|ficolin B|ficolin-2|ficolin-B|ficolin-beta|serum lectin p35 protein-coding 1348305 FCN3 ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq] 1580863 20237496,9694814,11907111,14718574,19220833,19208603,19109177,18261799,18032536,18006063,17469142,17303612,17215869,16641997,16335952,16303743,15489334,15340161,14702039,12975309,12624729,12477932,12367778,10330454,2276712,1859827 8547 NG_016279,NM_003665,AL663123,AY756173,CH471059,CQ783202,AK075140,AK309540,AY358081,AY358283,BC020731,CR456808,NM_173452,CR604997 NP_775628,NP_003656,CAI14774,CAI14775,CAI14776,AAU85296,EAX07756,EAX07757,CAF86408,BAC11429,AAQ88448,AAQ88650,AAH20731,CAG33089,O75636,Q5SSB9,Q6UXM4,Q6UY50,ABM82954,ABM86146 Hs.333383 FCNH|HAKA1|MGC22543 H-ficolin|collagen/fibrinogen domain-containing lectin 3 p35|collagen/fibrinogen domain-containing protein 3|ficolin 3|ficolin-3 protein-coding 1343825 FCP1 F-cell production 1 2461753 2221 1602077 FCRL1 Fc receptor-like 1 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 18802695,18704934,17895404,17273841,16849395,16344560,15479727,14702039,12477932,12037601,11929751,11493702,20237496,20379614,17207965 115350 NM_052938,NM_001159397,NM_001159398,AL139409,AL356276,CH471121,EF064734,AF329488,AF459634,AK096690,AK315748,AL833674,AL833970,AY043464,BC021274,BC033690,DA939902 NP_443170,NP_001152869,NP_001152870,CAH70232,CAH70233,CAH70234,CAH73052,CAH73053,CAH73054,EAW52860,EAW52861,EAW52862,EAW52863,ABK41917,AAL23898,AAL60250,BAC04842,BAG38102,CAD38815,AAK91777,AAH33690,Q96LA6,ADQ31817 Hs.656112 DKFZp667O1421|FCRH1|IFGP1|IRTA5 Fc receptor-like protein 1|IFGP family protein 1|fc receptor homolog 1|fcR-like protein 1|hIFGP1|immune receptor translocation-associated protein 5|immunoglobulin superfamily Fc receptor, gp42 protein-coding 1323109 FCRL2 Fc receptor-like 2 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 11162587,18802695,18704934,18314442,17273841,16710414,15489334,15340161,12975309,12477932,12037601,11929751,11493702,19682311,20237496 79368 AL356276,CH471121,AF319438,AF319439,AF319440,AF390037,NM_030764,AF459633,AK301113,AK303549,AL833194,AY043465,AY358130,BC069185,BC129836,EF064733 NP_110391,CAH73060,CAH73061,CAH73062,CAH73063,EAW52864,EAW52865,EAW52866,EAW52867,EAW52868,EAW52869,AAK01402,AAK01403,AAK01404,AAM12152,AAL60249,BAG62711,BAG64574,AAK91778,AAQ88497,AAH69185,AAI29837,Q96LA5,ABK41916 Hs.437393 FCRH2|IFGP4|IRTA4|SPAP1|SPAP1A|SPAP1B|SPAP1C Fc receptor-like protein 2|IFGP family protein 4|SH2 domain containing phosphatase anchor protein 1|SH2 domain-containing phosphatase anchor protein 1|fc receptor homolog 2|fcR-like protein 2|immune receptor translocation-associated protein 4|immunoglobulin receptor translocation-associated protein 4|immunoglobulin superfamily Fc receptor, gp42|sh2 domain containing phosphatase anchor protein 1 protein-coding 1604549 FCRL3 Fc receptor-like 3 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. [provided by RefSeq] 19438904,19235910,19158815,19050767,18704934,18556175,18313765,18087673,18065500,17961971,17868046,17763442,17617473,17389014,17273841,17200162,17179172,17154080,17133581,17133579,17117947,17020818,16911635,16859508,16519819,16476711,16384851,16176992,15838509,14702039,12477932,12051764,12014205,11929751,11493702,20732364,19452015,19494275,19565352,19605748,19657722,19690864,19843936,19877046,19953494,20190142,20237496,21078711 115352 NG_023241,NM_052939,AL356276,CH471121,AF416901,AF416902,AF416903,AF416904,AF416905,AF459027,AK098122,AK125622,AK301257,AL833391,AY043466,BC013698,BC028933,BX496349,CD690165 NP_443171,CAH73055,CAH73056,CAH73058,EAW52870,EAW52871,EAW52872,EAW52873,EAW52874,EAW52875,EAW52876,EAW52877,EAW52878,EAW52879,EAW52880,EAW52881,AAL13290,AAL13291,AAL13292,AAL13293,AAL13294,AAL59390,BAG53580,BAH13442,AAK91779,AAH28933,Q96P31,ABM83385,ABM86598 Hs.292449 FCRH3|IFGP3|IRTA3|SPAP2 Fc receptor homolog 3|Fc receptor-like protein 3|IFGP family protein 3|OTTHUMP00000020936|SH2 domain-containing phosphatase anchor protein 2|fcR-like protein 3|hIFGP3|immune receptor translocation-associated protein 3|immunoglobulin superfamily receptor translocation associated protein 3 protein-coding 1603196 FCRL4 Fc receptor-like 4 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq] 18802695,18704934,17273841,16849395,16157685,16079106,14597715,12881317,12619161,12477932,12037601,11929751,11493702,11290337,19592645,20237496,20379614 83417 BC125174,BC143628,NM_031282,AL135929,CH471121,EF064731,AF329490,AF329492,AF343659,AF343660,AF343661,AF397452,BC125173 AAI25174,AAI25175,Q96PJ5,NP_112572,CAI22862,EAW52882,EAW52883,ABK41914,AAL23900,AAL23902,AAK31322,AAK31323,AAK31324,AAK93970 Hs.120260 FCRH4|IGFP2|IRTA1|MGC150522|MGC150523 Fc receptor-like protein 4|IFGP family protein 2|fc receptor homolog 4|fcR-like protein 4|hIFGP2|immune receptor translocation-associated protein 1|immunoglobulin superfamily Fc receptor, gp42|immunoglobulin superfamily receptor translocation associated 1 protein-coding 1606497 FCRL5 Fc receptor-like 5 18802695,18704934,17273841,16710414,16681430,16439682,15671532,15489334,12975309,12477932,11929751,11493702,11453668,11290337,11027651,20590663,20626413,19775371,20237496 83416 NM_031281,AL135929,AL353899,CH471121,AF343662,AF343663,AF343664,AF343665,AF369794,AF397453,AK090423,AK090475,AK300010,AK301356,AL832301,AL834187,AY358085,BC101066,BC101067,BC101068,BC101069,BE676280,NM_001195388,EF064730,NG_027723 NP_112571,CAI22863,CAI22864,CAI22865,CAH71427,CAH71428,EAW52884,EAW52885,EAW52886,AAK31325,AAK31326,AAK31327,AAK31328,AAK50059,AAK93971,BAC03404,BAC03456,BAH13192,BAG62901,CAH56486,AAQ88452,AAI01067,AAI01068,AAI01070,Q8NF07,Q8NF56,Q96RD9,NP_001182317,ABK41913 Hs.415950 BXMAS1|CD307|DKFZp667E2019|DKFZp667F216|FCRH5|FLJ00333|FLJ00397|IRTA2|MGC119590|MGC119592|MGC119593|PRO820|RP11-217A12.1 Fc receptor-like protein 5|fc receptor homolog 5|fcR-like protein 5|immune receptor translocation-associated protein 2|immunoglobulin receptor translocation-associated protein 2|immunoglobulin superfamily receptor translocation associated 2 (IRTA2) protein-coding 1606397 FCRL6 Fc receptor-like 6 20519654,18991291,17273841,17213291,16710414,16344560,14702039 343413 NM_001004310,AL590560,AI631310,AK131201,AY212514,AY513661,AY654627,AY654628,DA959587 NP_001004310,CAH71102,CAM14070,CAM14071,CAM14072,BAD18394,AAP47270,AAS82876,AAT66024,AAT66025,Q6DN72 Hs.196955 FLJ16056|FcRH6 Fc receptor-like protein 6|Fc receptor-like protein 7|IFGP6|IgSF type I transmembrane receptor|fc receptor homolog 6|fcR-like protein 6|leukocyte receptor protein-coding 1606206 FCRLA Fc receptor-like A Receptors for the Fc fragment of IgG, or FCGRs (see MIM 146790), are cell surface glycoproteins of the Ig superfamily (IgSF). These receptors mediate phagocytosis of IgG-coated pathogens and promote activation of effector cells, leading to inflammatory responses and antibody-mediated cellular cytotoxicity. All FCGR genes map to human chromosome 1. Additional genes in this region, including FREB, encode FCGR homologs that are selectively expressed in B cells and may be implicated in B-cell development and lymphomagenesis.[supplied by OMIM] 17273841,16710414,15551350,15489334,15340161,12975309,12966588,12477932,12202404,11891275,11754007,20668221,15815692,20237496 84824 NM_032738,AL359541,CH471067,EF064729,AF329489,AF329491,AF329493,AF329494,AF329495,AF390036,AF426461,AF531423,AY091642,AY358348,BC006521,BM471887,BX112608,BX649184,CR592613,CR612235,NM_001184866,NM_001184867,NM_001184870,NM_001184871,NM_001184872,NM_001184873 NP_116127,CAH74156,CAH74157,CAH74158,CAH74159,CAH74160,CAH74161,CAH74162,EAW90683,EAW90684,EAW90685,EAW90686,EAW90687,EAW90688,EAW90689,ABK41912,AAL23899,AAL23901,AAL23903,AAL23904,AAL23905,AAL27307,AAL58111,AAM97591,AAM13980,AAQ88714,AAH06521,CAE46202,Q5VXA5,Q5VXB1,Q6MZF2,Q7L513,ABM84200,ABM87604,NP_001171795,NP_001171796,NP_001171799,NP_001171800,NP_001171801,NP_001171802 Hs.266331 FCRL|FCRL1|FCRLM1|FCRLX|FCRLb|FCRLc1|FCRLc2|FCRLd|FCRLe|FCRX|FREB|MGC4595|RP11-474I16.5 Fc receptor homolog expressed in B cells (FREB)|Fc receptor related protein X|Fc receptor-like A|Fc receptor-like and mucin-like 1|fc receptor homolog expressed in B-cells|fc receptor-like and mucin-like protein 1|fc receptor-like protein|fc receptor-related protein X protein-coding 1605583 FCRLB Fc receptor-like B FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM] 17975119,17273841,16263223,15815692,15676285,14702039,12477932,19023099 127943 NM_001002901,AL359541,CH471067,EF064728,AK055614,AK290733,AY670683,AY670684,AY670685,AY670686,AY670687,AY786314,BC038564,BC067080,DQ021957 NP_001002901,CAH74155,EAW90690,EAW90691,ABK41911,BAB70971,BAF83422,AAT77987,AAT77988,AAT77989,AAT77990,AAT77991,AAX11390,AAH38564,AAY42534,Q6BAA4,Q96DP6 Hs.517422 FCRL2|FCRLM2|FCRLY|FLJ31052|FREB-2|FcRY|RP11-474I16.6 Fc receptor like 2|Fc receptor-like B|Fc receptor-like and mucin-like 2|OTTHUMP00000158811|OTTHUMP00000158814|fc receptor homolog expressed in B cells protein 2|fc receptor-like and mucin-like protein 2|fc receptor-like protein 2|fc receptor-related protein Y protein-coding 731891 FDFT1 farnesyl-diphosphate farnesyltransferase 1 This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq] 1300048,1626611,1580863,2316857 19913121,20554694,20628086,10896663,17353931,8474436,19470168,19245693,19054015,18676367,18660489,18636124,18350552,17805225,17483544,16684881,15489334,14702039,12477932,8294001,8020937,7864626,7665618,7685352,16169070,18029348,20031551,20180986,20403997,20708005 1626611,2316857 2222 AK301617,AK311246,AK311362,AK315993,AK316033,AK316182,AK316351,AK316531,AK316534,BC003573,BC009251,BC029641,BC034440,BT006704,CR457033,CR590560,CR592418,CR595075,CR595860,CR596943,CR598732,CR601044,CR601829,CR602204,CR602308,CR602602,CR602686,CR603264,CR604624,CR605887,CR610548,CR610871,CR613379,CR614222,CR617288,CR617633,CR617638,CR618448,CR621292,CR622798,CR626247,L06070,L06105,S76822,X69141,AC069185,AF051647,AF051660,CH471157,AI679762,AK057726,AK098682,AK293545,AK296043,AK297868,AK300059,AK300245,NM_004462 BAG63102,BAH14364,BAH14404,BAH14553,BAH14722,BAH14902,BAH14905,AAH03573,AAH09251,AAH29641,AAP35350,CAG33314,AAA60582,AAA36645,AAB33404,CAA48896,P37268,Q6IAX1,ABM81623,ABM84808,NP_004453,EAW65628,EAW65629,BAG51957,BAH11529,BAG58807,BAG60195,BAG61868,BAG62012 Hs.593928 DGPT|ERG9|SQS|SS FPP:FPP farnesyltransferase|farnesyl diphosphate farnesyl transferase 1|presqualene-di-diphosphate synthase|squalene synthase|squalene synthetase protein-coding 69022 FDPS farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene. 1300048,1580863,2316857 18029348,20877624,2690933,19494338,19056481,11785983,11773414,11160603,10620343,9030588,8188698,7584026,2018485,1968462,18660489,18494934,18327899,18325729,17963374,17387528,17368768,17198737,16713569,16684881,16650801,16344560,15713990,15146197,14702039,12477932,12020352,18687167,20450493,20191015 2316857 2224 NM_002004,NM_001135822,NM_001135821,AL139410,CH471121,AK021828,AK022841,AK291084,BC010004,BE047993,CN346026,CR590457,CR596980,CR598280,CR599124,CR625993,D14697,DA610405,J05262,M29863 NP_001995,NP_001129294,NP_001129293,CAI12715,EAW53075,EAW53076,EAW53077,EAW53078,BAG51125,BAF83773,AAH10004,BAA03523,AAA52423,AAA35820,P14324,ABM84397,ABM86869 Hs.335918 FPPS|FPS FPP synthase|FPP synthetase|dimethylallyltranstransferase|farensyl diphosphate synthase|farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase)|farnesyl pyrophosphate synthase|farnesyl pyrophosphate synthetase|farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase|geranyltranstransferase protein-coding 1606652 FDPSL1 farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate synthetase-like 1, cholesterol-repressible protein 39A) 2613235 343332 NG_005667,AL357559 CHR39A|FDPSL1|FPSL1 pseudo 1602263 FDPSL2 farnesyl diphosphate synthase-like 2 (farnesyl pyrophosphate synthetase-like 2) 9847074,2613235 392063 NG_005796,AC114737 FDPSL2|FDPSL2A|FPSL2 pseudo 2303432 FDPSL2B farnesyl diphosphate synthase-like 2B (farnesyl pyrophosphate synthetase-like 2B) 441261 NG_009609,AC114737 FDPSL2B pseudo 1350506 FDPSL3 farnesyl diphosphate synthase-like 3 (farnesyl pyrophosphate synthetase-like 3) 2613235 2227 NG_005795,AL160471 FDPSL3|FPSL3 pseudo 1347692 FDPSL4 farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate synthetase-like 4) 2613235 2228 NG_007445,AC090514 CHR39B|FDPSL4|FPSL4 pseudo 1345163 FDPSL5 farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate synthetase-like 5) pseudogene 2613235 2229 NG_007446,AL022163 CHR39C|FDPSL5|FPSL5 pseudo 1353374 FDPSP farnesyl diphosphate synthase pseudogene 19668339,10830953 54051 NG_000923,AP001254,AP001678 FDPSP pseudo 4145239 FDPSP10 farnesyl diphosphate synthase pseudogene 10 100190987 AC068724,NG_008745 pseudo 4144937 FDPSP8 farnesyl diphosphate synthase pseudogene 8 401981 AL356310,NG_008746 pseudo 4144923 FDPSP9 farnesyl diphosphate synthase pseudogene 9 401822 AC015871,NG_008747 pseudo 1347130 FDX1 ferredoxin 1 The product of this gene is a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to a terminal cytochrome P450. This particular oxidation/reduction system is found in steroidogenic tissues, and is involved with the synthesis of bile acid and vitamin D. In addition to the expressed gene at this chromosomal locus (11q22), there are pseudogenes located on chromosomes 20 and 21. This gene product has been identified in a number of different tissues but all forms have been shown to be identical and are not tissue specific. [provided by RefSeq] 1580863,4145666,2325883 20689807,1863359,2969697,18519826,17188650,15927889,15489334,12782149,12699818,10899784,9890963,6270113,3872685,3343244,3339111,3229285,2340092,1917982,1909889,1429635,12477932,20547883,20379614,20877624 4145666,2325883 2230 NM_004109,AP000924,CH471065,EF444978,M23665,M23668,M34785,M34786,AB096243,BC010284,BC017063,BQ650029,BT006681,CR598979,CR607314,CR611214,CR620794,CR626036,J03548,M18003,M34788 NP_004100,EAW67132,ACA05992,AAA50462,AAA35855,AAA35856,AAH10284,AAH17063,AAP35327,AAA96806,AAA76853,AAA35829,P10109 Hs.744 ADX|FDX|LOH11CR1D adrenal ferredoxin|adrenodoxin, mitochondrial|ferredoxin-1|hepatoredoxin|mitochondrial adrenodoxin protein-coding 1604250 FDX1L ferredoxin 1-like 16344560,14702039,12477932,20877624 112812 BC010155,BC063460,DA243025,AW245043,NM_001031734,AC011511,AK300568 AAH63460,Q6P4F2,Q8N8B8,NP_001026904,BAH13303 Hs.654865 MGC19604|MGC74760 OTTHUMP00000201199|adrenodoxin-like protein, mitochondrial|ferredoxin-1-like protein protein-coding 1352788 FDX2 ferredoxin 2 2340092 2143 2301592 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 16344560,15146197,14702039,12477932,11181995 91893 NM_138378,AP001781,CH471065,AK097483,AK300795,AK311254,AW296845,BC006136,BC127680,CN260853,DB064223,DB451877 NP_612387,EAW67156,BAG53475,BAG62454,AAH06136,AAI27681,Q9BRP7 Hs.697132 hCG_2033039 FDX-ACDB domain-containing protein 1|ferredoxin-fold anticodon-binding domain-containing protein 1 protein-coding 1348201 FDXP1 ferredoxin pseudogene 1 2340092,2969697 2231 NG_001117,AL109923,M34787 ADXP1|FDXP1 pseudo 1344913 FDXP2 ferredoxin pseudogene 2 10830953,2340092 2216 NG_001116,AP000225,M34789 FDXP2 pseudo 734233 FDXR ferredoxin reductase This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants of this gene have been described although the full-length nature of only two that encode different isoforms have been determined. [provided by RefSeq] 1580863,2325883 2845396,18319262,1863359,16344560,15489334,14702039,12787114,20877624,12477932,12370809,12137805,11096094,11053423,9373149,8125298,2969697,2790061,2748461,2393675,2236061,1917982,12782149,19004824 2325883 2232 CR590842,CR594512,CR613827,CR615445,CR616367,CR619324,CR622927,DA267443,J03826,NM_024417,AC068874,CH471099,DQ085780,M58508,M58509,AK094120,AK098648,AK223530,AK293208,AK293210,AK295307,AK298908,AK301779,AK301977,BC002960,BC011521,BC018911,BC034763,NM_004110,BC063493,BT006684 AAP35330,AAB59497,AAB59498,P22570,Q6GSK2,NP_004101,NP_077728,EAW89205,EAW89206,EAW89207,EAW89208,EAW89209,AAY68215,AAA51668,AAA51669,BAG52818,BAD97250,BAG56748,BAG56750,BAG58287,BAG61016,BAG63236,BAH13598,AAH02960,AAH63493 Hs.69745 ADXR AR|NADPH:adrenodoxin oxidoreductase, mitochondrial|adrenodoxin reductase|ferredoxin--NADP(+) reductase protein-coding 1342731 FEB1 febrile convulsions 1 8730286 2233 1353249 FEB2 febrile convulsions 2 9384604 2234 1350811 FEB3 febrile convulsions 3 10514109 27066 1347424 FEB4 febrile convulsions 4 10587582 1316819 FECH ferrochelatase (protoporphyria) The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1598932,1580863,1578396,4145285,4144542,4144806 19888946,11175906,8973195,1729699,15123683,1376018,18787536,18160121,17884090,17875872,17875605,17723290,17597821,17567154,17566985,17261801,17196862,16844398,16819399,16385445,16344560,15850836,15831704,15574461,15489334,15286165,15046047,14702039,14669009,12601550,12480705,12477932,12139757,12081474,12063482,11929053,11929052,11375302,10942404,9740232,9712849,9649563,9585598,9373149,9211198,8889548,8757534,8500787,8481408,8276824,8125298,7983009,7910885,7629135,3940245,3047929,2340297,2260980,1755842,1184741,180343,19615732,19657351,19691493,19703464,19767646,19965627,20379614,20877624 1598932,4145285,4144542,4144806 2235 NM_001012515,NM_000140,NG_008175,AC100847,AF495859,AF495860,AJ250235,CH471096,L36178,AI767430,AJ709747,AK092416,AK223190,AK292937,AK299643,BC039841,BG772545,BT019958,BT019959,BU734879,BX571744,CR605426,CR623385,D00726,DA990386 NP_001012533,NP_000131,AAM18070,AAM18071,CAB65962,EAW63046,EAW63047,AAA64787,BAC03882,BAD96910,BAF85626,BAG61566,AAH39841,AAV38761,AAV38762,CAE11869,BAA00628,P22830,Q53FU1,Q5TZY0,Q7KZA3,Q8NAN0,Q8TD50 Hs.365365 EPP|FCE ferrochelatase, mitochondrial|heme synthase|heme synthetase|protoheme ferro-lyase|protoporphyria protein-coding 1342832 FECHP ferrochelatase pseudogene 8034322 2236 NG_001118,AC092054,X69299 FECHP pseudo 1353975 FEM1A fem-1 homolog a (C. elegans) 18757445,18270204,16390781,16254458,12477932,11733146,11559703,11441184,9828124,19615732,19948975,20200332,19913121,20628086 55527 AC005523,AJ311359,AK074232,AK126532,AK315554,AL359589,AL365408,NM_018708,AY356352,BC004988,CR590695,CR624347,CR749732 NP_061178,CAC85342,BAG37930,CAB94875,CAB96952,AAR10439,AAH04988,CAH18491,Q9BSK4,ABZ92346 Hs.515082 DKFZp762M136|EPRAP FEM1-alpha|fem-1 homolog a (c.elegans)|prostaglandin E receptor 4-associated protein|protein fem-1 homolog A protein-coding 1312083 FEM1B fem-1 homolog b (C. elegans) 1580863 10542291,10623617,15601820,19330022,18757445,12477932,12421765,10764728,9455477,19615732,19908242,19948975,20200332 10116 AC021553,AC107871,CH471082,AB007856,AF178632,AF204883,AK098620,AK290167,AL833264,BC010122,BC014558,CR612333,NM_015322 NP_056137,EAW77818,EAW77819,BAA23692,AAF05314,AAF69303,BAF82856,AAH10122,AAH14558,Q9UK73,ABW03902 Hs.362733 DKFZp451E0710|F1A-ALPHA|FIAA F1A-alpha|FEM-1-like death receptor binding protein|FEM1-beta|fem-1-like death receptor-binding protein alpha|fem-1-like in apoptotic pathway protein alpha|protein fem-1 homolog B protein-coding 1319607 FEM1C fem-1 homolog c (C. elegans) 18757445,14527725,12477932,11733146,11347906,19615732 56929 NM_020177,AC008628,AC010226,CH471086,AB058688,AF391093,AK025265,AK315803,AL050087,AL110246,AL365409,AL365415,AL831817,AY249188,BC028369,W07603,BC098385 NP_064562,EAW48963,BAB47414,AAL37627,BAB15096,BAG38144,CAB96953,CAB96957,CAD38531,AAO64429,Q96JP0,ABM84509,ABM85720,AAH28369 Hs.47367 EUROIMAGE686608|EUROIMAGE783647|FEM1A|KIAA1785 FEM1-gamma|fem-1 homolog c (c.elegans)|protein fem-1 homolog C protein-coding 1347982 FEM1DP fem-1 homolog d (C.elegans) pseudogene 378813,441957 AL050303,NG_021994 pseudo 732679 FEN1 flap structure-specific endonuclease 1 The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq] 737746,1580863 18499658,18443037,18417526,18394896,18291413,18097100,17488975,17176113,16914748,16582103,16554811,16216273,16169070,15758026,15635413,15616578,15592449,15579905,15561706,15556996,15489334,15131255,15037610,14690413,14688284,14657243,14562054,12917330,12856420,12853968,12683998,12554738,12515398,12494477,12477932,12453426,12427278,12411510,12356323,12200445,12065902,11948189,11601988,11598021,11260214,10635332,10559261,10545607,10460157,9778254,9545252,9445487,9214649,8876181,7774922,7673186,1477073,7961795,8621570,11986308,8007985,8131753,9305916,11430825,15504738,19329428,19218431,19208620,19068479,19010819,18786645,18669164,18662981,18541666,11313979,20444887,9178907,9705499,12171929,20551483,20574454,20802161,20643645,20729856,18029348,18995831,19525235,19618370,19674974,20019387,20126648,20226869,20496165,20522537,17115032,20819778 737746 2237 AAB32522 NM_004111,AC004770,AF523117,AP002380,CH471076,U73629,AK301743,AK312761,BC000323,BT019524,CR536562,CR591287,CR597752,CR612026,CR613507,CR618866,CR625107,CR626174,CR626555,L37374,X76771 NP_004102,AAC23394,AAM74238,EAW73972,BAG63206,BAG35627,AAH00323,AAV38331,CAG38799,AAA91331,CAA54166,AAB32522,P39748,Q6FHX6 Hs.409065 FEN-1|MF1|RAD2 DNase IV|flap endonuclease 1|hFEN-1|maturation factor 1|maturation factor-1 protein-coding 1354439 FENL1 flap endonuclease-like 1 7774922,14562054,7774922 2238,645931 AY249897,BX323048,NG_005887 FENL1 pseudo 1350285 FEOM1 fibrosis of the extraocular muscles, congenital, 1 8075644 2240 1345858 FEOM3 fibrosis of extraocular muscles, congenital, 3 10393037 26176 1314798 FER fer (fps/fes related) tyrosine kinase Fer protein is a member of the FPS/FES family of nontransmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. [provided by RefSeq] 1580863 10921917,10878010,10411641,9748248,9742951,9742093,9722593,8247543,7623846,3472906,3350007,2725517,2685575,2156206,1990274,1663488,1651563,10998246,2209086,19147545,17192257,16732323,15324660,14517306,12871378,12738762,12640114,12477932,12118379,11994747,19913121,20628086,11006284,18029348,18985748,19339212,19738202,19835603 2241 NM_005246,NG_011445,AC008871,AC008955,AC010228,AC011421,AC034207,AC109481,AC116428,CH471086,AK293376,AK296874,AK299855,AK315234,BC017060,BC058030,CR612158,J03358 NP_005237,EAW49054,EAW49055,EAW49056,BAG56888,BAG59436,BAG61714,BAG37661,AAH17060,AAH58030,AAA61190,P16591,Q05DA5,Q6PEJ9,AAI41560 Hs.221472 TYK3 p94-Fer|phosphoprotein NCP94|proto-oncogene c-Fer|tyrosine kinase 3|tyrosine-protein kinase Fer protein-coding 1350956 FER1L4 fer-1-like 4 (C. elegans) 17512949,16344560,15146197,14702039,12477932,10192385,9175703,15066638 80307 NR_024377,AL109827,AL121586,AL389875,CH471077,AF218012,AF218030,AI219207,AI741534,AK023521,AK026266,AL833764,AY461812,BC029951,BX648024,CN290811,CR601296,DA854396,DA859834,DR731183 CAI20117,CAB89410,CAI15745,EAW76196,BAB14597,AAS19932,Q5T346,A9Z1Z3 Hs.72222 C20orf124|DKFZp686F01207|FLJ13459|FLJ22613|bA563A22B.1|dJ309K20.1 pseudo 1625097 FER1L5 fer-1-like 5 (C. elegans) 12477932,11181995 90342 NM_001113382,AC068539,AC079754,CH471207,AK126032,AL133022,AY461813,BC117324,BC126368,BC143825 NP_001106853,EAW71345,EAW71346,BAC86403,AAS19933,AAI17325,AAI26369,A0AVI2,AAI43826 Hs.534025 fer-1-like 5|fer-1-like protein 5 protein-coding 1625099 FER1L6 fer-1-like 6 (C. elegans) 20200978,20379614 654463 NM_001039112,AC011134,AC090753,AC100871,AB196633,DV080599,DW010047 NP_001034201,BAE53435,Q2WGJ9 Hs.632058 C8ORFK23 fer-1-like protein 6 protein-coding 1323462 FERD3L Fer3-like (Drosophila) 12690205,12477932,12217327,11472856 222894 NM_152898,AC003986,AF369897,CH236948,CH471073,AF517122,BC069147,BC101135,BC101136,BC101137,BC101138 AAI01139,Q96RJ6,NP_690862,AAK72956,EAL24278,EAW93712,EAW93713,AAN04086,AAH69147,AAI01136,AAI01137,AAI01138 Hs.592168 MGC119861|N-TWIST|NATO3|NTWIST|bHLHa31 basic helix-loop-helix protein N-twist|class A basic helix-loop-helix protein 31|fer3-like protein|nephew of atonal 3|neuronal twist protein-coding 1315645 FERMT1 fermitin family homolog 1 (Drosophila) 1600405 20028441,19292718,19240021,19200189,18835760,18652585,18528435,17989907,17916195,17460733,17178989,17012746,16675959,16051467,15927810,14962093,14702039,14634021,12789646,12697302,12668616,12477932,9472028,9373149,8125298,19762710,19762715,19804783,19854292,19945623,20306291 1600405 55612 NM_017671,AL118505,CH471133,AB105105,AF443278,AK000123,AK000747,AK025365,AK027076,AK092195,AK225216,AK314394,AY137240,BC035882,BC040545,BX647465,NG_016213 NP_060141,CAC03433,CAI42167,EAX10392,EAX10393,EAX10394,EAX10395,BAD12269,AAN75822,BAA90957,BAA91358,BAC03826,BAG37018,AAM94174,AAH35882,AAH40545,Q49AC8,Q54A15,Q5JWV4,Q9BQL6 Hs.472054 C20orf42|DTGCU2|FLJ20116|FLJ23423|KIND1|UNC112A|URP1 UNC112 related protein 1|chromosome 20 open reading frame 42|fermitin family homolog 1|kindlerin|kindlin 1|kindlin syndrome protein|unc-112-related protein 1 protein-coding 1323441 FERMT2 fermitin family homolog 2 (Drosophila) 20127858,19854292,20861856,18528435,18458155,17081983,15489334,14745725,14702039,12789646,12697302,12679033,12508121,12477932,8175911,20702409 10979 NM_006832,NM_001134999,NM_001135000,AL139317,AL352979,CH471061,AF443279,AK126426,AK291738,BC011125,BC017327,BX161467,CR624174,CR749486,EU979385,Z24725 NP_006823,NP_001128471,NP_001128472,EAW80618,EAW80619,EAW80620,AAN75823,BAF84427,AAH17327,CAD61925,ACH73257,CAA80852,Q96AC1,ACE87435,ACE86749 Hs.509343 DKFZp686G11125|FLJ34213|FLJ44462|KIND2|MIG2|PLEKHC1|UNC112|UNC112B|mig-2 PH domain-containing family C member 1|fermitin family homolog 2|kindlin 2|kindlin-2|mitogen inducible gene 2 protein|mitogen-inducible gene 2 protein|pleckstrin homology domain containing, family C (with FERM domain) member 1|pleckstrin homology domain containing, family C member 1|pleckstrin homology domain-containing family C member 1 protein-coding 1602673 FERMT3 fermitin family homolog 3 (Drosophila) 20357244,15231747,19240021,19234463,19234461,19064721,18779414,18280249,15489334,14702039,12886250,12789646,12697302,12477932,20378539,20216991,19234460,19617577,19647987,19854292 83706 NM_178443,NM_031471,AP005668,CH471076,AK093719,AL560215,AY093951,AY093952,BC004347,BC013366,BC015584,BG491422,CR613949,CR621529,L25343,NG_016360 NP_848537,NP_113659,EAW74199,EAW74200,BAC04220,AAM19736,AAM19737,AAH04347,AAH13366,AAH15584,Q86UX7 Hs.180535 KIND3|MGC10966|MIG-2|MIG2B|UNC112C|URP2|URP2SF MIG2-like protein|UNC-112 related protein 2|fermitin family homolog 3|kindlin 3|unc-112-related protein 2 protein-coding 1605153 FERP fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 553112 NG_005390,AL030996 FERP|FERps pseudo 1319652 FES feline sarcoma oncogene This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms. 1580863 11604131,19865112,19885553,20117079,6264598,18029348,19464057,19382747,19082481,19051325,19001085,18775312,18046454,17595334,17521372,16792528,16455651,16344560,15929003,15869325,15713745,15630569,15489334,15485904,15099290,15003822,12871378,12653561,12543931,12477932,12093729,11994747,11700021,11339827,11160325,11071635,10856136,9754447,9714332,8999909,8955135,8916957,8663427,8631962,8449035,8108116,8007965,7700650,7691175,7529874,7523858,7518439,6323103,6183005,4065096,3947550,3488499,2426571,2179816,1870997,1862005,1373879,10706130,9222609,17353931,19913121,20628086 2242 NM_002005,NM_001143784,NM_001143783,AC124248,CH471101,DQ048387,M14589,X06292,AK300595,AK300605,AK309530,AK312545,AY513654,AY513655,AY513656,AY513657,BC035357,CR593957,CR622908,CR624741,DA782386,DB264752,M14209,X52192,NM_001143785 NP_001137257,NP_001996,NP_001137256,NP_001137255,EAX02113,EAX02114,EAX02115,EAX02116,AAA53105,CAA29619,BAG62292,BAG62301,BAG35443,AAS82866,AAS82867,AAS82868,AAS82869,AAH35357,AAA52441,CAA36438,P07332,Q2VXS7,Q2VXS8,Q2VXS9,Q2VXT0,Q4JFK7,Q4JFK8,ABM82276,ABM85456 Hs.7636 FPS OTTHUMP00000195203|Oncogene FES, feline sarcoma virus|c-fes/fps protein|feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog|proto-oncogene c-Fes|proto-oncogene c-Fps|proto-oncogene tyrosine-protein kinase Fes/Fps|tyrosine-protein kinase Fes/Fps protein-coding 1348659 FETUB fetuin B The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq] 68778,1580863 16797392,16335952,15499407,15489334,15280384,12943536,12477932,10947975,8889549,1284814 68778 26998 NM_014375,AC068631,CH471052,AB017551,AF534529,AJ242928,AK303859,AK309647,AK315309,AY373820,AY373821,BC069670,BC069820,BC074734,BC114616,BX115543,CR603548 NP_055190,EAW78185,EAW78186,BAA78341,AAQ10515,CAB62538,BAH14069,BAG37713,AAR22507,AAR22508,AAH69670,AAH69820,AAH74734,AAI14617,Q5J875,Q5J876,Q9UGM5 Hs.81073 16G2|Gugu|IRL685 OTTHUMP00000210121|fetuin-B|fetuin-like protein IRL685 protein-coding 1351543 FEV FEV (ETS oncogene family) This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq] 1580863 9121764,18391951,17597646,15758173,15003288,12761502,12477932,10949935,20480378,20546612,19707175,19874574,20048018,20468064 54738 NG_023323,NM_017521,AC097468,CH471063,BC023511,Y08976 NP_059991,AAX88917,EAW70664,AAH23511,CAA70169,Q99581,ABM84328,ABM87783 Hs.234759 HSRNAFEV|PET-1 FEV (fifth Ewing variant)|PC12 ETS domain-containing transcription factor 1|PC12 ETS factor 1|fifth Ewing variant protein|protein FEV protein-coding 732377 FEZ1 fasciculation and elongation protein zeta 1 (zygin I) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq] 704404,1580863 15146197,16344560,8889548,19924516,18583979,19632097,19667186,20084519,14690447,15383276,16169070,9096408,19367581,19251251,18615714,18470533,18439996,17374448,17200414,16484223,15843383,15522253,15489334,15466860,12874605,12477932,11856312,9971736,20730382 9638 BM663785,CN310685,DA697171,AK296554,BC009545,CR456817,CR541954,CR593895,CR596282,CR602876,CR606763,CR609364,CR614380,CR615559,CR619971,NM_005103,NM_022549,AP000708,CH471065,U60060,U60062,U69139 EAW67636,EAW67637,EAW67638,EAW67639,BAG59177,AAH09545,CAG33098,CAG46752,NP_005094,NP_072043,AAC51282,AAC51284,AAB40660,Q99689,ABM81889,ABM85061 Hs.224008 fasciculation and elongation protein zeta-1|protein kinase c-binding protein zeta1|zygin I|zygin-1 protein-coding 735511 FEZ2 fasciculation and elongation protein zeta 2 (zygin II) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq] 1580863 14690447,9096408,16484223,15815621,14697253,12477932,10931946,10642437,8228263,20201926,20379614 9637 NM_001042548,AC007401,AF168681,CH471053,AB076184,AF113124,AK025274,AL117593,BC018032,NM_005102,BC037566,BC047020,BC054043,BC064484,BC089390,BC110386,BX537785,CR589976,CR591023,CR594110,CR606546,CR608599,CR618629,CR620406,L17328,U60061,U69140,AB209719 NP_005093,NP_001036013,AAY14650,EAX00420,EAX00421,EAX00422,EAX00423,EAX00424,EAX00425,BAD06207,AAF14865,AAH18032,AAH54043,AAH64484,AAH89390,AAI10387,CAD97842,AAB02341,AAC51283,AAB40661,Q0D2I6,Q3ZCX5,Q59EU2,Q5EBN3,Q6P2J5,Q7Z5U3,Q7Z674,Q9UHY8,BAD92956 Hs.258563 HUM3CL|MGC117372 OTTHUMP00000201286|OTTHUMP00000201289|OTTHUMP00000201293|fasciculation and elongation protein zeta-2|pre-T/NK cell associated protein (3Cl)|zygin 2|zygin II|zygin-2 protein-coding 1604689 FEZF1 FEZ family zinc finger 1 19401682,19318583,12477932 389549 NM_001024613,NM_001160264,AC015983,CH236947,CH471070,AK300742,AY726588,BC127714,BC127715,BC136684,BC144367,CB104829,DC386457 NP_001019784,NP_001153736,EAL24342,EAW83568,BAG62411,AAI27715,AAI27716,AAI36685,AAI44368,A0PJY2 Hs.553970 FEZ|ZNF312B fez family zinc finger protein 1|zinc finger protein 312-like|zinc finger protein 312B protein-coding 1346685 FEZF2 FEZ family zinc finger 2 1580863 16344560,9921901,14702039,12477932,11025224,8889548 55079 NM_018008,AC092502,CH471055,AF064845,AF332890,AK001004,AK290464,BC022464,BM930804,DA492936,DR002892,H28929 NP_060478,EAW65403,EAW65404,AAG50287,BAA91464,BAF83153,AAH22464,Q8TBJ5 Hs.241523 FEZ|FEZL|FKSG36|FLJ10142|TOF|ZFP312|ZNF312 OTTHUMP00000213300|OTTHUMP00000213301|fez family zinc finger protein 2|forebrain embryonic zinc finger-like protein 2|zinc finger protein 312|zinc finger protein Fez-like protein-coding 736481 FFAR1 free fatty acid receptor 1 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq] 2315761,1580863,2316010 9344866,19401434,19068482,19047536,19009545,18947221,18927207,18827341,18583466,18191887,17987108,17699519,17525159,17200419,16525841,16289108,15736105,15695516,15684720,15606695,15489334,12629551,12565875,12496284,12477932,19460454,19758793,20227312,19913121,20628086 2315761,2316010 2864 NM_005303,AF024687,BC095536,BC120943,BC120944,EF611308 NP_005294,AAB86710,AAH95536,AAI20944,AAI20945,ABQ96386,O14842,Q0IJ71 Hs.248127 FFA1R|GPCR40|GPR40 G protein-coupled receptor 40|G-protein coupled receptor 40|free fatty acid receptor 1|g protein-coupled receptor 40 protein-coding 1347517 FFAR2 free fatty acid receptor 2 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq] 1580863 9344866,19047536,19009545,18827341,18818303,18812643,18801738,18499755,17899402,16887331,20837008,15684720,15489334,15057824,12711604,12684041,12496283,12477932,12393494,19780758,19460454,21037097 2867 EU432114,AX810701,BC095535,BC096198,BC096199,BC096200,BC096201,CA309917,CK819813,NM_005306,AC002511,AF024690,CS173025,AB378083 CAJ33694,ABY87913,AAH95535,AAH96198,AAH96199,AAH96200,AAH96201,O15552,NP_005297,AAB67886,AAB86713,BAH86809 Hs.248056 FFA2R|GPR43 G protein-coupled receptor 43|G-protein coupled receptor 43|free fatty acid activated receptor 2|free fatty acid receptor 2|g protein-coupled receptor 43 protein-coding 1322276 FFAR3 free fatty acid receptor 3 1580863 9344866,16887331,15684720,15489334,14722361,12711604,12496283,12477932,8496602,1985119,16754659,19460454,18801738,19574715,19630535 2865 AC002511,AF024688,U62631,AK290710,BC035657,NM_005304,BC113695,BC148269,EU432115 NP_005295,AAB86711,BAF83399,AAH35657,AAI13696,AAI48270,ABY87914,O14843,ABM82161,ABM85345 Hs.248055 FFA3R|GPR41 G protein-coupled receptor 41|G-protein coupled receptor 41|free fatty acid receptor 3|g protein-coupled receptor 41 protein-coding 737209 FGA fibrinogen alpha chain The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in two isoforms which vary in the carboxy-terminus. [provided by RefSeq] 1601167,2312416,1582445,704404,1601166 12729597,12707238,12665801,12617173,12477932,12430881,12406899,12358944,12356313,12193970,12119191,12117709,12050338,12009908,11914657,11900554,11858505,11833854,11776317,11739173,11583334,11562340,11546832,11460506,11460491,11435303,11170397,11159525,11054085,10963790,10956659,10913112,10891444,10602365,10391209,10074346,9867861,9689040,9628725,9485375,9389696,9333233,9276466,8944230,8939956,8675656,8639778,8636415,8589203,8473507,8461606,8400261,8384496,8140431,8097946,7298640,6719396,6689067,6688355,6575700,6575389,6500566,6383194,6318767,6266066,6165239,5645286,4250289,4084461,4052020,3618591,3590111,3345340,3088041,2877981,2738154,2367530,2133234,2133223,2102623,2070049,1912564,1680863,12871600,1675636,1634621,1587268,1560020,1457396,1391954,936108,19468208,19429776,19420105,19412134,19190816,19143925,19136375,18974842,18848323,18842294,18772067,18690352,18676163,18500534,18331453,18294856,18278190,18227259,18208536,18202324,18057060,17994314,17982313,17951283,17849175,17849064,17701467,17688324,17650077,17630702,17596138,17591786,17568659,17565234,17433418,17414213,17408725,17408411,17303222,17295221,17275949,17264959,17263791,17241179,16940416,16939214,16928957,16894470,16881935,16807684,16706972,16698114,16614319,16525568,16468976,16466010,16362348,16335952,16324093,16263253,16210568,16144795,16086292,15968394,15865460,15831156,15795809,15795540,15735812,15637140,15346842,15311936,15217804,15203218,15166913,14751930,14746139,14667819,6777381,2742826,5084810,7356959,10605720,14718574,10467729,19515723,19507189,518846,518845,19913121,20628086,20677013,20709368,14615374,632262,10954706,12878203,16005629,16581250,17643375,19350124,19572064,19631771,19696023,19718467,19729601,19750100,19899640,19923982,19928926,19948975,19967163,20019599,20031577,20051841,20059469,20128871,20167083,20217997,20218626,20237496,20416077,20533267,16712791 1601167,2312416,1582445,1601166 2243 CR617717,CR618112,CR619844,CR625737,J00127,J00128,K02272,M26878,M58569,NM_021871,NM_000508,NG_008832,AB087996,AC107385,AF361104,CH471056,M64982,S82092,AK290559,AL531808,AL579998,BC020764,BC070246,BC098280,BC099706,BC099720,BC101935,BC105803,BG565064,BQ064506,BX494953,CB122305,CD608675,CR594140,CR608055,CR608485,CR613050,CR613778 AAA52426,AAA52427,AAA52428,AAA52444,P02671,Q3KRA7,Q6NSD8,Q86Z09,Q8WW76,AAC97142,AAC97143,NP_068657,NP_000499,BAC55116,AAK31372,AAK31373,EAX04924,EAX04925,EAX04926,EAX04927,EAX04928,AAA17055,AAA17056,AAB47117,BAF83248,AAH20764,AAH70246,AAH98280,AAH99706,AAH99720,AAI01936,AAI05804 Hs.351593 Fib2|MGC119422|MGC119423|MGC119425 fibrinogen alpha chain|fibrinogen, A alpha polypeptide|fibrinogen, alpha polypeptide protein-coding 734251 FGB fibrinogen beta chain The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq] 1580381,1580382,1580383,1580384,1580385,2312416,737709,1331525,1580863 20873219,5084810,7356959,10605720,14718574,6688356,19593947,19560472,19559392,19508823,19479237,19431272,19420351,19420105,19409601,19404555,19395327,19332210,19272152,6777381,2742826,19264644,19238444,19229055,19227305,19190816,19143925,19136375,19131662,19072566,19056482,18982866,18977990,18974842,18936436,18930220,18927546,18853456,18848323,18842294,18841297,18836720,18818200,18803625,18772067,18726528,18685811,18683729,18513389,18511872,18503143,18434720,18334738,18331453,18284606,18278190,18253477,18202324,18188987,18173921,18057060,18029348,18000621,17994314,17951283,17925485,17849064,17688324,17637253,17591786,17582472,17497226,17469143,17414213,17264952,17263791,17230042,17160939,17126309,17116333,17115186,17111197,17003923,16953282,16940416,16938111,16928957,16899909,16776623,16767673,16750002,16706972,16697386,16635210,16614319,16611940,16604498,16601848,16567932,16525569,16525568,16489740,16466010,16443328,16420563,16409729,16353042,12393540,12356313,12161363,12151156,12141403,12122980,12082592,12082590,12048138,11940334,11877019,11858186,11836675,11833854,11798781,11728146,11714857,11588042,11546832,11468164,11460528,11460506,11296154,11293402,11054085,11027931,10980194,10766195,10666208,10467729,10391209,10074346,9787167,9628725,9333233,9224210,9028318,8979138,8910396,8889549,8666148,8384496,8148485,7642629,7592883,7583541,6575700,6575689,6575389,6383194,6165239,3194892,3156856,3029722,2572363,2322576,2102623,2018836,1680863,1634610,1565641,936108,891553,420779,156564,15723073,12878203,16005629,16581250,17643375,19352213,19578796,19682239,19750100,19811441,19860767,19892918,19899640,19906129,19923980,19948975,19954614,19956635,19996109,20031576,20031577,20036902,20051843,20059469,20064497,20075509,20078877,20082208,20128871,20135074,20162731,20167083,20237496,20376805,20425806,20452482,20535834,20538554,16335952,16324093,16263699,16215953,16195396,16157382,16144795,16086292,16080811,16049588,15983960,15968394,15939070,15857159,15842357,15795540,15795538,15793786,15737987,15735812,15735811,15709716,15671034,15631828,15608011,15583729,15575509,15489334,15346842,15300640,15217804,15213870,15192836,15170397,15104216,15091001,15076187,14963283,14746139,14706682,14691567,14669221,14652632,14629469,14629463,14618197,12899665,12893758,12871600,12747593,12716802,12710752,12665801,12637691,12624729,12617173,12616980,12615788,12578626,12518110,12514663,12511408,12477932,12406024,19913121,20533267,20536507,20628086,20637145,20673868,20709368,9351824,20079495,21034162,21054877 1580381,1580382,1580383,1580384,1580385,2312416,737709,1331525 2244 X05018,AI174804,AK303788,AK309592,AK311683,AK312972,BC007030,BC036007,BC070245,BC106760,BC107766,CR590454,CR592797,CR592803,CR593608,CR593807,CR593920,CR594221,BC060040,NM_001184741,NG_008833,AC107385,AF388026,CH471056,J00131,J00132,M26877,M64983,NM_005141,CR594367,CR594460,CR594718,CR594764,CR594766,CR594769,CR595479,CR595550,CR595945,CR595998,CR596051,CR596719,CR596720,CR597172,CR597353,CR597369,CR597670,CR597709,CR597722,CR597783,CR598319,CR598606,CR600168,CR600529,CR600866,CR601684,CR601700,CR601953,CR602453,CR602793,CR602828,CR603045,CR604002,CR604009,CR604313,CR605124,CR605515,CR605676,CR605964,CR606336,CR606437,CR607409,CR608241,CR609143,CR609453,CR609458,CR611317,CR611382,CR611717,CR613391,CR613846,CR613960,CR614094,CR614201,CR614263,CR614265,CR614404,CR615740,CR615982,CR616572,CR616718,CR617174,CR617322,CR617356,CR617919,CR618377,CR618810,CR618890,CR619840,CR620361,CR620628,CR621038,CR621559,CR621561,CR621583,CR621650,CR621672,CR622096,CR622186,CR622369,CR622383,CR623054,CR623131,CR623707,CR623793,CR624332,CR624480,CR624989,CR625311,CR625535,CR625744,CR626051,CR626133,CR626502,CR626504,J00129,J00133,T74412 CAA28674,BAG64745,BAG35810,AAH07030,AAI06761,AAI07767,AAA18024,NP_001171670,NP_005132,AAK62470,EAX04930,EAX04931,EAX04932,EAX04933,EAX04934,EAX04935,EAX04936,EAX04937,EAX04938,EAX04939,AAA98115,AAA98116,AAA52445,AAA52429,P02675,Q32Q65 Hs.300774 MGC104327|MGC120405 fibrinogen beta chain|fibrinogen, B beta polypeptide|fibrinogen, beta polypeptide protein-coding 1351228 FGD1 FYVE, RhoGEF and PH domain containing 1 FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically to the Rho family GTPase Cdc42Hs and stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. FGD1 has an essential role in embryonic development, and FGD1 gene mutations result in the human developmental disorder, Aarskog-Scott syndrome. [provided by RefSeq] 1580863 8969170,7954831,18029348,19261807,19141649,17847065,16688726,15743413,15489334,15327482,14560308,12913069,12673651,12477932,11940089,11181572,11093277,10930571,10906777,9268645,8268928,12134158,8994827,20607856,11756498,12376548,12787561,17564959,19110080,20082460 2245 NM_004463,NG_008054,CH471154,Z85987,AK226117,AK299635,BC034530,CR617413,U11690 NP_004454,EAW93179,EAW93180,EAW93181,CAI42222,BAG61561,AAH34530,AAA57004,P98174 Hs.709201 AAS|FGDY|MRXS16|ZFYVE3 FYVE, RhoGEF and PH domain-containing protein 1|faciogenital dysplasia 1 protein|rho/Rac GEF|rho/Rac guanine nucleotide exchange factor FGD1|zinc finger FYVE domain-containing protein 3 protein-coding 1320399 FGD2 FYVE, RhoGEF and PH domain containing 2 1580863 18838382,17564959,15489334,14702039,14574404,12477932,11214971,10458911,11756498,12376548,12787561 221472 NM_173558,AL160264,CH471081,AK024456,AK092732,AK097230,AK097981,AK098248,AK131079,AK290419,AK300964,AK301156,BC023645,BC053655,BC062363,BX648164 NP_775829,CAI20471,EAX03932,EAX03933,BAB15746,BAC04982,BAC85129,BAF83108,BAG62589,BAG62746,AAH23645,AAH53655,Q7Z6J4,ABM84538,ABM85854 Hs.509664 FLJ00048|FLJ40929|MGC71330|ZFYVE4 FGD1 family, member 2|FLJ00276 protein|FYVE, RhoGEF and PH domain-containing protein 2|fgd1 family, member 2|zinc finger FYVE domain-containing protein 4 protein-coding 1323332 FGD3 FYVE, RhoGEF and PH domain containing 3 17564959,16344560,15489334,15164053,14702039,12477932,11214971,10721717,9373149,8125298,11756498,12376548,12787561,20379614 89846 NM_033086,AL389924,AL451065,CH471089,AK000004,AK225843,AK292676,AK301974,AY211386,BC032429,NM_001083536,BC111054,BF509875,BX647829,CR591538,DA493667,DB161711 NP_001077005,NP_149077,CAI41118,CAI95107,EAW62840,EAW62841,EAW62842,EAW62843,EAW62844,EAW62845,EAW62846,EAW62847,BAA92229,BAF85365,BAG63386,AAP20645,AAH32429,AAI11055,Q5JSP0,Q9NXY1,ACE87503,ACE86816 Hs.411081 FLJ00004|MGC117260|ZFYVE5 FGD1 family, member 3|FYVE, RhoGEF and PH domain-containing protein 3|faciogenital dysplasia 3|fgd1 family, member 3|zinc finger FYVE domain-containing protein 5 protein-coding 732078 FGD4 FYVE, RhoGEF and PH domain containing 4 This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. [provided by RefSeq] 1580863 19332693,19221294,17564972,17564959,15744041,15133042,14702039,12477932,11527409,11429692,9668039,11756498,12376548,12787561,19494521,20379614 121512 NM_139241,NG_008626,AC090440,AC090677,CH471116,AK057294,AK091689,AK124654,AK297025,AK303334,AL713762,AL832064,AY367054,BC039708,BC045552,BC063403,BC096746,DB446722,AC084824 NP_640334,EAW88528,EAW88529,EAW88530,BAB71413,BAH12479,BAH13945,CAD28532,AAQ72372,AAH45552,Q49A55,Q96M96 Hs.117835 CMT4H|DKFZp313E1818|DKFZp434K1572|FLJ34370|FLJ42663|FRABP|MGC57222|ZFYVE6 FGD1 family, member 4|FGD1-related F-actin-binding protein|FYVE, RhoGEF and PH domain-containing protein 4|OTTHUMP00000174414|actin filament-binding protein frabin|actin-filament binding protein frabin|zinc finger FYVE domain-containing protein 6 protein-coding 1313708 FGD5 FYVE, RhoGEF and PH domain containing 5 15489334,14702039,12477932,10737800,20595579 152273 NM_152536,AC087591,AC090937,CH471055,AK096856,AK097276,AK123054,AK131078,BC035364,BC040614,BC132814,BC132816,BC144300,BX538312,BX640820 NP_689749,EAW64208,EAW64209,BAC04878,BAC04989,BAG53865,BAC85128,AAH35364,AAI32815,AAI32817,AAI44301,CAD98090,Q6ZNL6,CAE45896 Hs.412406 ZFYVE23 FYVE, RhoGEF and PH domain-containing protein 5|zinc finger FYVE domain-containing protein 23 protein-coding 1319292 FGD6 FYVE, RhoGEF and PH domain containing 6 15761153,15489334,15324660,14702039,12477932,10718198 55785 NM_018351,AC011598,AC126615,AC127165,CH471054,AB037783,AK002045,AK026881,AK124904,AK128492,BC013319,BC125225,BC125226,BX538322 NP_060821,EAW97521,BAA92600,BAA92052,BAC85990,BAC87464,AAH13319,AAI25226,AAI25227,CAD98096,Q6ZV73,AAI67803 Hs.506381 ZFYVE24 FYVE, RhoGEF and PH domain-containing protein 6|zinc finger FYVE domain-containing protein 24 protein-coding 735698 FGF1 fibroblast growth factor 1 (acidic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq] 2290286,2290287,2290291,2290288,2298518,2298516,1580863 20863990,1697263,8622701,9139660,11294897,16597617,19453261,19249349,18819464,18762812,18669637,18505824,18495870,18441324,18308335,18298822,18202770,17963255,17909102,17893707,17852407,17610236,17570396,17567994,17538174,17204151,17134911,16886895,16807244,16766579,16495214,16411766,16392031,16355415,16344560,16316338,16219767,16091423,15882952,15870071,15835896,15695515,15632285,15561939,15489334,15382229,15358178,15314170,15199049,14673954,14627732,12871334,12788899,12750963,12484774,12477932,12440521,12417591,20706664,19229075,1693186,10618369,14732692,17133345,10903182,3778488,12145206,12118009,12057924,12008951,11964394,11847269,11509569,11432880,11069186,11032250,10830168,10736564,10574949,10510314,10373120,10336501,10206481,9806903,9719643,9712836,9655399,9630568,9501919,8976296,8950275,8679713,8652550,7681435,7680120,7678925,7542239,7533902,7521397,7504343,3964259,3732516,3527167,3523756,2590193,2474753,2444975,2427112,2393407,1885605,1720622,1717925,1702556,1372643,11245213,8576175,11030354,20634891,20672350,20673868,10579907,12746488,12815063,16263090,18187602,19112917,19574212,19683004,19835837,19845895,19923735,20027339,20036812,20072657,20189986,20298684,20424473,20452482,20504870,8663044,21048031 2290286,2290287,2290291,2290288,2298518,2298516 2246 NR_026696,NM_001144935,NM_001144934,NM_033136,NM_000800,NM_001144892,NM_033137,AC005370,AC005592,AY601819,CH471062,CQ848834,CQ855983,M23087,M30492,X59065,AF211169,AI283639,AK289762,AK312301,BC032697,BG706412,DA126618,NR_026695,DA228737,DA389088,DA649213,DC344309,DQ655917,L01485,L01487,M13361,M60515,M60516,M74028,S67291,S67292,S67294,X51943,X65778,X65779 NP_001138407,NP_001138406,NP_149127,NP_000791,NP_001138364,NP_149128,AAS99352,EAW61881,EAW61882,EAW61884,EAW61885,CAH18501,CAH23443,AAA52638,AAA52446,CAA41788,AAF22975,BAF82451,BAG35227,AAH32697,AAA52425,AAA52447,AAA79245,AAA51672,AAA51673,AAB29057,AAB29058,AAB29059,CAA36206,CAA46661,CAA46662,P05230,Q16089,Q6LBM3,Q9UBK1,Q9UH63 Hs.483635 AFGF|ECGF|ECGF-beta|ECGFA|ECGFB|FGF-alpha|FGFA|GLIO703|HBGF1 HBGF-1|OTTHUMP00000199419|acidic fibroblast growth factor|beta-endothelial cell growth factor|endothelial cell growth factor, alpha|endothelial cell growth factor, beta|fibroblast growth factor 1|heparin-binding growth factor 1 protein-coding 734330 FGF10 fibroblast growth factor 10 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq] 2314151,2292665,1580863,737805,737804,737803 10541313,10579907,11896977,15199049,16086254,17188682,17449030,17500053,17959718,17969154,18437684,18990706,19115389,19152659,19224135,19727229,20036575,20083228,20424473,20544801,9740653,11923311,12591959,17133345,9287324,8622701,11294897,16597617,19102732,18773495,18594526,18587586,18454440,18329286,18081024,17944804,17682060,17609292,17496316,17471512,17360555,17264867,17213838,17071719,16630169,16597614,16501574,16323074,15806171,15690149,15679583,15654336,15632068,15489334,15208658,14975937,14726452,12818887,12804770,12477932,9916808,9582367,10951499,9927546,20634891,11286634,10629055,21048031 2314151,2292665,737805,737804,737803 2255 NM_004465,NG_011446,AC093289,AC093537,AY604046,CH471119,CQ897310,AB002097,AF411527,AF508782,AK315314,BC069561,BC105021,BC105023,CR541665,CR541688,GQ351295,U67918 NP_004456,AAS99733,EAW56075,CAH69769,BAA22331,AAL05875,AAM46926,AAH69561,AAI05022,AAI05024,CAG46466,CAG46489,ACU00617,AAB61991,O15520,Q6FHR3,Q8NFI9,ADR82765 Hs.664499 FGF-10|fibroblast growth factor 10|keratinocyte growth factor 2|produced by fibroblasts of urinary bladder lamina propria protein-coding 734211 FGF11 fibroblast growth factor 11 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. [provided by RefSeq] 1580863 8790420,15489334,15199049,14702039,12477932,10662545,9070933 2256 NM_004112,AC113189,AY094623,CH471108,AB209390,AK293131,AK308477,AK308812,AK311269,AY049782,BC032502,BC037421,BC108265,CR597907,U66199,Z70275 NP_004103,AAM11871,EAW90187,BAD92627,BAH11459,AAL15439,AAH32502,AAI08266,AAB18915,CAA94239,Q59FR9,Q6LA99,Q92914 Hs.655193 FHF3|FLJ16061|MGC102953|MGC45269 FGF-11|FHF-3|fibroblast growth factor 11|fibroblast growth factor homologous factor 3 protein-coding 1348702 FGF12 fibroblast growth factor 12 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 8790420,10049777,19043545,18525161,18519826,18289114,16344560,15489334,15199049,14702039,12815063,12477932,12401812,11378392,9345906,20083228,20379614,21139019,12244047,20634891,7829101 2257 NM_004113,NM_021032,AC026671,AC073363,AC079623,AC079847,AC128710,CH471052,CS263102,AJ709079,AK125307,AK312513,AK313671,BC022524,BI494808,DA457811,DA521146,U66197,U76381,Z70276,XR_108532,XR_112544,XR_113559 NP_004104,NP_066360,EAW78084,EAW78085,EAW78086,CAJ77469,BAG54181,BAG35414,BAG36423,AAH22524,AAB18913,AAB18786,CAA94240,P61328,Q99517,ABM92221,ABM84701 Hs.584758 FGF12B|FHF1 FGF-12|FHF-1|OTTHUMP00000209261|OTTHUMP00000209262|OTTHUMP00000209263|OTTHUMP00000209265|OTTHUMP00000209266|fibroblast growth factor 12|fibroblast growth factor 12B|fibroblast growth factor FGF-12b|fibroblast growth factor homologous factor 1|myocyte-activating factor protein-coding 733500 FGF13 fibroblast growth factor 13 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked mental retardation mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq] 8790420,12244047,15489334,15282281,15199049,12496262,12477932,11847221,10644718,9914447,9847253,9751161,10071193,18482256 2258 CS173331,Z82193,Z82204,AF100143,AF100144,AF108756,AF199612,AF199613,AK289960,AK297545,AK303685,AK316170,BC012347,BC034340,BG179556,BQ068644,BU195176,DC362132,U66198,NM_001139498,NM_001139500,NM_001139501,NM_001139502,NM_033642,NM_004114,AL023798,AL023800,AL031386,AL034398,AL034416,AY672645,CH471150 EAW88436,EAW88437,EAW88438,EAW88439,EAW88440,CAJ33717,CAI95673,CAI95674,CAI95675,CAI95677,CAI42696,CAI42697,CAI42699,CAI42701,AAD16400,AAD16401,AAD21577,AAF31399,AAF31400,BAF82649,BAH12613,BAH14016,BAH14541,AAH12347,AAH34340,AAB18914,Q92913,Q9NZH9,Q9NZI0,Q9Y643,ABM83461,EAW88435,ABM86672,NP_001132970,NP_001132972,NP_001132973,NP_001132974,NP_378668,NP_004105,CAI43097,CAI95613,CAI95615,CAI95616,AAT70720 Hs.6540 FGF2|FHF-2|FHF2 FGF-13|OTTHUMP00000024145|OTTHUMP00000024147|fibroblast growth factor 13|fibroblast growth factor homologous factor 2 protein-coding 1343584 FGF14 fibroblast growth factor 14 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 8790420,17236779,17221845,16211615,16166153,15470364,15365159,15199049,15148151,15057823,12489043,12477932,12364586,12123606,12815063,20379614 2259 NM_175929,NM_004115,NG_008317,AL139802,AL159155,AL160153,AL161899,AL356263,AL356266,AL512629,AL591909,CH471085,AY188178,BC100920,BC100921,BC100922,U66200 NP_787125,NP_004106,CAC42528,CAH73403,CAI16837,CAI15768,CAI15769,CAI15872,CAI15873,EAX09054,EAX09055,AAO31806,AAI00921,AAI00922,AAI00923,AAB18916,Q92915 Hs.508616 FHF4|MGC119129|SCA27 FGF-14|FHF-4|bA397O8.2|fibroblast growth factor 14|fibroblast growth factor homologous factor 4 protein-coding 733065 FGF16 fibroblast growth factor 16 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The rat homolog is predominantly expressed in embryonic brown adipose tissue and has significant mitogenic activity, which suggests a role in proliferation of embryonic brown adipose tissue. [provided by RefSeq] 70737,1580863 20097674,9473496,17133345,1697263,11294897,16597617,16756958,15199049,11474196,11276432,10579907 70737 8823 BX682239,CH471104,AB009391,NM_003868 NP_003859,CAI43189,EAW98617,BAA24956,O43320,Q5HY72,AAI48640,AAI53197 Hs.666364 FGF-16 fibroblast growth factor 16 protein-coding 733951 FGF17 fibroblast growth factor 17 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was shown to be prominently expressed in the cerebellum and cortex. The mouse homolog of this gene was localized to specific sites in the midline structures of the forebrain, the midbrain-hindbrain junction, developing skeleton and developing arteries, which suggests a role in central nervous system, bone and vascular development. This gene was referred to as FGF-13 in reference 2, however, its amino acid sequence and chromosomal localization are identical to FGF17. [provided by RefSeq] 69833,708340,1580863 10579907,9514906,17133345,1697263,9139660,11294897,16597617,12975309,19122663,15489334,15199049,15129425,14702039,12477932,10751172,10381577,9751161,8889548,21048031,16384934,9045692 69833,708340 8822 NM_003867,AC091171,AF497475,CH471080,AB009249,AK091643,AY358869,BC069475,BC105131,BC113489,BC143789,BM666883 NP_003858,AAM09570,EAW63727,EAW63728,EAW63729,BAA25429,AAQ89228,AAH69475,AAI05132,AAI13490,AAI43790,O60258,ADR83507 Hs.248192 FGF-13 FGF-17|fibroblast growth factor 17 protein-coding 737083 FGF18 fibroblast growth factor 18 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq] 69834,1580863,704404 19453261,18978678,17890768,17360555,17128416,16756958,16381901,16019430,15749088,15489336,15489334,15199049,12975309,12477932,11124520,11076863,10751172,10353607,9660775,10579907,11256614,9742123,17133345,1697263,11294897,16597617,20507176,10629055,16384934,19197348,19727229,19909293,21048031 69834 8817 BQ018759,NM_003862,AC011400,AC093246,CH471062,CS008054,AB007422,AF075292,AF211188,AY358811,BC006245,BT019570,BT019571,FB706733 NP_003853,EAW61441,EAW61442,CAI53491,BAA31986,AAC62240,AAF22977,AAQ89954,AAH06245,AAV38377,AAV38378,O76093,CAL38673,ABM83662,ABM86909,CAS03064 Hs.87191 FGF-18|ZFGF5 fibroblast growth factor 18 protein-coding 1344909 FGF19 fibroblast growth factor 19 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq] 1580863 20453838,9931477,20691689,20013647,11294897,16597617,19185005,18829467,18559909,17711860,17599042,17339340,17000708,15489334,15340161,15199049,14976145,14730967,12975309,12815072,12792807,12477932,12057932,11956156,11110663,10525310,19681655,10579907,10652257,17623664,18187602,19237543,20018895,20093562 9965 NM_005117,AP001888,CH471076,AB018122,AF110400,AY358302,BC017664,BT006729,CR610453 NP_005108,EAW74751,BAA75500,AAD45973,AAQ88669,AAH17664,AAP35375,O95750 Hs.249200 FGF-19|fibroblast growth factor 19 protein-coding 70822 FGF2 fibroblast growth factor 2 (basic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq] 2315840,2315915,2290290,2290287,2290291,2290288,2290303,2315842,2315844,2315845,2315858,2315860,2315863,2315870,2315875,2315879,2315880,2315885,2315911,2289364,2298517,2298516,2315843,2315866,2315876,2315846,2315912,2315907,2292211,1580863,704404,2317762,2317763,2317758,2317759,2317756,2317765,2317760 20504870,20819778,21041608,21048031,17217840,20362567,20681019,18705695,20001221,20197313,19541589,20504760,20945415,17133345,18555217,9576942,10903182,9553078,1697263,8622701,9139660,11294897,16597617,10490103,2435575,19617559,19587357,19586755,19478386,19456219,19453261,19386985,19351956,19319189,19318994,19301256,19287993,19279131,19245795,19235591,19217457,19197140,19196427,19160106,19107653,19100714,19096867,19096229,19086919,19061884,19059221,19056764,18979395,18974971,18930044,11075807,10848592,9712850,18819464,18803285,18802039,18783914,18773427,18698254,18680389,18639416,18592007,18570917,18549879,18519946,18511454,18481005,18452581,18438927,18420995,18419755,18364383,18347025,18332228,18298475,18281281,18279437,18258238,18253936,18187129,18179408,18171671,18164704,18164591,18094712,18093228,18088275,18055262,18052595,18042549,18036796,18031768,18025790,18006148,17997184,17996481,17968943,17968311,17949478,17942638,17929017,17825301,17762899,17726742,17724016,17706726,17699594,17676480,17653045,17651425,17637743,17578349,17556598,17543283,17537668,17537644,17532297,17522998,17505261,17503459,17497037,17478553,17466952,17381064,17298206,17234579,17204151,17169545,17157157,16996573,16949906,16905765,16876430,16867222,16840552,16822883,16820871,16816927,16807244,16769728,16739027,16723715,16709186,16685268,16638370,16631837,16597610,16521228,16495214,16490198,16320338,16304044,16278388,16257968,16227592,16222707,16210019,16160009,16135988,16103882,16077964,15996482,15985216,15947088,15942693,15906377,15875782,15875316,15825079,15817123,15809086,15780951,15769981,15769511,15756443,15737206,15731686,16080018,16077988,15726914,15725477,15713745,15703886,15695515,15680705,15631865,15610530,15603823,15573376,15525641,15496150,15481452,15464234,15342556,15316024,15302993,15297314,15293454,15249224,15247275,15247002,15243127,15208265,15199049,15166228,15146197,15120936,15117822,15096041,15033176,14706681,14699503,14680499,14672345,14669345,14630795,14523006,13680247,12872165,12871334,12871330,12857733,12857600,12823444,12815619,12799459,12755687,12746216,12727994,12682649,12676798,12659634,12651930,12631070,12623787,12607599,12590983,12574959,12571252,12545206,12538477,12517814,12509902,12496364,12478660,12477932,12428103,12403780,12393937,12369790,12235165,12209593,12172783,12168799,12145206,12087465,12080186,12057924,12054499,12032827,12020352,12008951,12006402,12000311,11999550,11986954,11985797,11976347,11964307,11960370,11940567,11928807,11891801,11891198,11864711,11847221,11815602,11796824,11742492,11716516,11708770,11598182,11509569,11390973,11276432,11066092,10950949,10652299,10438928,10397733,10358027,9925931,9858574,9826564,9558385,9342064,9266968,8885834,8530375,8344959,7999082,7935812,7735329,7691311,7532176,3964259,3780670,3732516,3579930,3472745,2726761,2538817,2435284,2320377,2265560,1885605,1849658,1785797,1769963,1707542,1702556,1417798,11141237,15689238,16436505,16982797,11030354,12717444,19913121,20335309,20571834,20628086,20628624,20634891,20641033,20644561,20672350,20673868,20713592,20224347,18829480,16095497,17500071,20116383,20645833,10579907,20857427,10574949,10830168,11053263,11418238,12631064,12660731,15879597,15924676,16020751,16463783,17167778,17562265,17605857,17981115,18329368,18635606,19147956,19308772,19423540,19477940,19489096,19495899,19533745,19556344,19608737,19614919,19631775,19631914,19651147,19670348,19696444,19710942,19713533,19781633,19802384,19822079,19828453,19885553,19890880,19892399,19919531,19930868,19933269,19950605,20016498,20053757,20056600,20127022,20128380,20150555,20202860,20230531,20339243,20363749,20371606,20406964,20438785,20452482,8663044,20514456,20122687 2315840,2315915,2290290,2290287,2290291,2290288,2290303,2315842,2315844,2315845,2315858,2315860,2315863,2315870,2315875,2315879,2315880,2315885,2315911,2289364,2298517,2298516,2315843,2315866,2315876,2315846,2315907,2292211,2317762,2317763,2317758,2317759,2317765,2317760 2247 NM_002006,AC021205,CH471056,S81809,X04431,X04432,X04433,Y13468,AA256481,AB451321,AB451450,AY820133,BC111737,BE439775,BP292299,BU501243,CN315083,J04513,M17599,M27968,S47380 NP_001997,EAX05222,AAB21432,CAA28027,CAA28028,CAA28029,CAA73868,BAG70135,BAG70264,AAV70487,AAA52531,AAA52532,AAA52533,AAA52534,AAA52448,AAD13853,P09038,AAI66646 Hs.284244 BFGF|FGFB|HBGF-2 basic fibroblast growth factor bFGF|heparin-binding growth factor 2|prostatropin protein-coding 731457 FGF20 fibroblast growth factor 20 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was shown to be expressed in normal brain, particularly the cerebellum. The rat homolog is preferentially expressed in the brain and able to enhance the survival of midbrain dopaminergic neurons in vitro. [provided by RefSeq] 1580863 15592430,10913340,17133345,16597617,19133659,18568448,18252210,18205889,17515805,15967032,15122513,12477932,11306498,11032730,10629055,11276432,15199049,17213182,19564416,19619121,20379614,20427658,20471450,10579907 26281 AC025218,AC136305,AY696296,CH471080,CQ967762,AB030648,AB044277,BC096720,BC098128,BC098153,BC098339,BC127125,BC137446,BC137447,BC141980,NM_019851,BC141979,DT220794,NG_015978,CS441943 NP_062825,AAT85804,EAW63828,CAI38634,BAB03530,BAB03633,AAH96720,AAH98128,AAH98153,AAH98339,AAI37447,AAI37448,Q4V769,Q9NP95,CAL68869 Hs.199905 FGF-20 fibroblast growth factor 20 protein-coding 1344631 FGF21 fibroblast growth factor 21 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this growth factor has not yet been determined. [provided by RefSeq] 1303354,1580863 10858549,19318452,19059246,18829467,18722685,18680716,18559909,18252893,17926232,17452648,17068132,15902306,15340161,21060863,20566462,20451522,15199049,12975309,12477932,20452080,17623664,19117008,19401423,19487637,19528204,19531592,19699495,19702724,19720803,19926712,20332535,19681655,20566587,20717167,20682689 1303354 26291 NM_019113,AC009002,CH471177,AB021975,AY359086,BC018404,HC470937,HI660981,HI661168 NP_061986,EAW52401,EAW52402,BAA99415,AAQ89444,AAH18404,Q9NSA1,ABM82712,ABM85896,CBL54507,CBY65805,CBY65875 Hs.283015 FGF-21|fibroblast growth factor 21 protein-coding 733776 FGF22 fibroblast growth factor 22 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. [provided by RefSeq] 1580863 11342227,17133345,8622701,11294897,16597617,15806171,15260994,15199049,12975309,12477932,12660731,10579907 27006 NM_020637,AC004449,AY426986,CH471242,AB021925,AY359084,BC137444,BC137445 NP_065688,AAC06148,AAQ93357,EAW61175,EAW61176,BAB13479,AAQ89955,AAI37445,AAI37446,O60371,Q9HCT0 Hs.248087 FGF-22|fibroblast growth factor 22 protein-coding 1351456 FGF23 fibroblast growth factor 23 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The product of this gene inhibits renal tubular phosphate transport. This gene was identified by its mutations associated with autosomal dominant hypophosphatemic rickets (ADHR), an inherited phosphate wasting disorder. Abnormally high level expression of this gene was found in oncogenic hypophosphatemic osteomalacia (OHO), a phenotypically similar disease caused by abnormal phosphate metabolism. Mutations in this gene have also been shown to cause familial tumoral calcinosis with hyperphosphatemia. [provided by RefSeq] 1580863,1598933 17086194,17133345,11294897,16597617,19515808,19453261,19414634,19411468,19366850,19357251,19329831,19214027,19188744,19148564,19050056,19019915,18972258,18829467,18682534,18678710,18660671,18660670,18591743,18346951,18310961,18282132,18234575,18214537,18166826,17982392,17968495,17761032,17699549,17567652,17494882,17464094,17374707,17359508,17333246,9139660,20180772,20613714,16638743,16381997,16352682,16337659,16234967,16081635,16055933,16033853,15961556,15930999,15749088,15613425,15590700,15489334,15340161,15284207,15268897,15264182,15248822,15199049,14988389,14633152,12975309,12874285,12854832,12851820,12791601,12519781,12477932,12419819,12032180,12032146,11805436,11737582,11409890,11344269,11157998,11062477,11032749,12678920,12590648,20176609,20448073,20685863,21048031,1697263,17129170,16941023,20529556,20558539,20571400,20583336,20641162,10579907,10629055,15040831,19181315,19215029,19395730,19480830,19524924,19609206,19655082,19679205,19684183,19712854,19776202,19797911,19837926,19929273,19946326,19965540,19966287,20150940,20157196,20357029,20379614,20394945,20479029,20037176,20368304,20546343,20576822,20634326,20966399 1598933 8074 NM_020638,NG_007087,AC008012,AY336491,AY566236,CH471116,CS072309,AB037973,AB047858,AF263537,AY358323,BC069333,BC096713,BC098147,BC098252,GM685208,GM710003,HH835133 NP_065689,AAP97433,AAS59157,EAW88848,CAI93447,BAB13477,BAB55889,AAG09917,AAQ88689,AAH69333,AAH96713,AAH98147,AAH98252,Q7Z4T2,Q9GZV9,CAT81644,CAT82838,CBX33262 Hs.287370 ADHR|HPDR2|HYPF|PHPTC FGF-23|fibroblast growth factor 23|phosphatonin|tumor-derived hypophosphatemia inducing factor|tumor-derived hypophosphatemia-inducing factor protein-coding 1346722 FGF3 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq] 1580863 2470007,16263090,17133345,8622701,11294897,16597617,19453261,18701883,18464913,18435799,17656375,17360555,17236138,15489334,15199049,12477932,11438656,10749884,8663044,8223243,1922362,3023852,20453838,10579907,11353842,19923290,19950373,20018768 2248 NM_005247,NG_009016,AP006345,CH471076,X14445,BC113739 NP_005238,EAW74753,EAW74754,CAA32615,AAI13740,P11487 Hs.37092 HBGF-3|INT2 FGF-3|INT-2 proto-oncogene protein|V-INT2 murine mammary tumor virus integration site oncogene homolog|fibroblast growth factor 3|fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)|heparin-binding growth factor 3|murine mammary tumor virus integration site 2, mouse|oncogene INT2|proto-oncogene Int-2 protein-coding 1343486 FGF4 fibroblast growth factor 4 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq] 1580863 18510611,18192227,17852409,17390055,15695515,15199049,15146197,14980503,12923055,12841847,12172783,12163055,12008951,11840335,11743396,11486033,11021964,10089404,8663044,3283658,3060803,2974287,2957062,2953031,1611909,10579907,2959959,17133345,1697263,9139660,11294897,16597617,19277121,19074885,18811955,20634891,20673868,20453838,11023873,12660731,17167778,20452482,20864512,21048031 2249 AAB21430 NM_002007,AP001888,CH471076,CQ783028,J02986,AW340506,CN429959,FJ456981,M17446 NP_001998,EAW74752,CAF86234,AAB59555,AAB59556,ACJ68447,AAA59473,AAB21430,P08620,Q14569,AAI56334,AAI72495 Hs.1755 HBGF-4|HST|HST-1|HSTF1|K-FGF|KFGF FGF-4|HSTF-1|fibroblast growth factor 4|fibroblast growth factor 4 splice isoform|heparin secretory transforming protein 1|heparin secretory-transforming protein 1|heparin-binding growth factor 4|human stomach cancer, transforming factor from FGF-related oncogene|kaposi sarcoma oncogene|oncogene HST|transforming protein KS3 protein-coding 1350517 FGF5 fibroblast growth factor 5 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 3211147,17133345,1697263,9139660,16597617,19430483,18362893,15199049,14702039,12477932,12008951,11876253,11715949,11454700,10823842,9333017,9323936,9134330,8663044,8386828,8374885,7923352,2577873,2005884,1700424,1658709,12660731,20154207,20201926,20479155,20542020,9045692,20819778,20852445,21045733,20634891,9786939,10579907 2250 NM_004464,NM_033143,AC021127,CH471057,DQ151636,M23534,M23536,AA461028,AB016517,AF171928,AF355187,AF535149,AK090557,AK291962,AK312065,BC074858,BC074859,BC131502,BG252761,BQ001160,DR004226,M37825 NP_004455,NP_149134,EAX05859,EAX05860,AAZ67914,AAB60698,AAB60699,BAA33738,AAF89742,AAQ15127,AAN04097,BAC03477,BAF84651,BAG35001,AAH74858,AAH74859,AAI31503,AAB06463,P12034,Q6A549,Q8NBG6,Q8NF90 Hs.37055 HBGF-5|Smag-82 FGF-5|fibroblast growth factor 5|heparin-binding growth factor 5 protein-coding 732549 FGF6 fibroblast growth factor 6 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq] 2289066,2301089,1580863 1697263,9139660,11294897,16597617,15489334,15199049,12477932,11801566,10945637,8663044,8020938,1886714,1549352,1385111,10579907,20458746,2649847,17133345,20558539 2289066,2301089 2251 NM_020996,AC008012,AY581424,CH471116,X14071,X14072,X14073,X57075,BC121097,BC121098,X63454 NP_066276,AAS79318,EAW88847,CAB37648,CAA40358,CAA40359,CAA40360,AAI21098,AAI21099,CAA45054,P10767 Hs.166015 HBGF-6|HST2 FGF-6|HST-2|HSTF-2|fibroblast growth factor 6|heparin secretory-transforming protein 2|heparin-binding growth factor 6 protein-coding 69203 FGF7 fibroblast growth factor 7 (keratinocyte growth factor) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq] 2289084,2289080,2289085,2289086,2301091,2301094,2301090,1580863 17692400,17609292,17596295,17525264,17360555,17301835,17200110,17049492,16984257,16554439,16344560,16216128,16162944,16141466,15809711,15806171,15781986,15695515,15690149,15679583,15677771,15613483,15562028,15327889,15252450,15250830,14962112,12802496,12645668,12529371,12477932,12438323,12413766,12243757,12215437,12122441,12016100,12008951,11973338,11943656,11937263,11891329,11821103,11326315,11147673,11000522,10702276,9794620,9369951,9326632,8898224,8663044,8566750,8392040,7749227,7687739,7680645,2915979,1664700,1409637,1281549,9582367,2475908,7973639,17133345,11493558,11294897,19326389,19287982,19281086,19250802,19148469,19106113,18386288,17994369,17944804,17882267,17786302,17706640,20634891,20620021,10541313,10579907,11023837,15199049,17449030,17593825,17953372,19434818,19584147,19700645,19920075,19956603,20036421,20065999,9740653 2289084,2289080,2289085,2289086,2301091,2301094,2301090 2252 NM_002009,AC022306,AC025919,AY496041,CH471082,AK313160,BC010956,CR542002,CR593889,CR609737,CR617541,DB206350,M60828,S81661 NP_002000,AAR87872,EAW77376,BAG35978,AAH10956,CAG46799,AAA63210,AAB21431,P21781,Q6FGV5,Q6RK68,Q96FG5 Hs.567268 HBGF-7|KGF FGF-7|heparin-binding growth factor 7|keratinocyte growth factor protein-coding 1351158 FGF7P1 fibroblast growth factor 7 pseudogene 1 9326632 387559 NG_006580,AP005121 HsT283 pseudo 1342596 FGF7P2 fibroblast growth factor 7 pseudogene 2 9326632 394217 NG_005961,AL049911,AL163203 CAB90393,Q9NSJ0 FGF7L|PRED3 pseudo 733956 FGF8 fibroblast growth factor 8 (androgen-induced) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq] 2289339,2289343,2289338,2289340,2289342,2289344,2301097,2314151,2314157,2301098,1580863 21048031,10579907,8595889,17133345,8700553,8661131,9139660,11294897,16597617,18596921,18386787,17600781,17512240,17264867,16683270,16384934,15935652,15199049,12778074,12477932,12140757,12054865,11953856,11420691,11358849,11341643,11021964,10751172,10736564,10574949,9332670,8891346,8663044,7737407,20634891,20463092,15193767,17265164,17309880,17394220,18437684,19415685 2289339,2289343,2289338,2289340,2289342,2289344,2301097,2314151,2314157,2301098 2253 NM_006119,NM_033165,NM_033163,NM_033164,NG_007151,AC010789,AF520763,CH471066,U46212,U46213,U56978,CS007996,D38752,S78466,U36228,U47011,AB014615,BC069106,BC128235,BC128236,U36223,U46211 NP_006110,NP_149355,NP_149353,NP_149354,AAM55238,AAB40954,AAB40955,AAB03787,P55075,EAW49748,EAW49746,EAW49747,EAW49749,EAW49750,CAI53480,BAA22527,AAB34255,AAB17894,AAC50782,AAC50783,AAC50784,AAC50785,BAA28605,AAH69106,AAI28236,AAI28237,AAB17893,AAB40953 Hs.57710 AIGF|FGF-8|HBGF-8|KAL6|MGC149376 androgen-induced growth factor|fibroblast growth factor 8|heparin-binding growth factor 8 protein-coding 735806 FGF9 fibroblast growth factor 9 (glia-activating factor) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq] 69835,1580863,704404 8321227,8575785,1697263,9139660,11294897,16597617,19589401,18618013,18593907,18165946,17154280,17133345,16982695,16540513,15780951,15489334,15199049,15057823,14702039,14602803,12565813,12072406,11223514,11060292,10574949,10544294,10362017,9507114,9121694,8663044,8576175,8428960,12660731,14534538,19460469,19564416,20424473,20819778,21048031,17848411,12477932,20634891,10579907 69835 2254 AL139378,AY682094,CH471075,AK095571,AK290792,BC069692,BC103978,BC103979,CR746503,D14838,NM_002010,NG_016272 NP_002001,CAC17692,AAT74624,EAX08316,BAF83481,AAH69692,AAI03979,AAI03980,BAA03572,P31371 Hs.111 GAF|HBFG-9|MGC119914|MGC119915|SYNS3 FGF-9|HBGF-9|fibroblast growth factor 9|glia-activating factor|heparin-binding growth factor 9 protein-coding 1350352 FGFBP1 fibroblast growth factor binding protein 1 FGFBP1, or HBP17, binds to both acidic (FGF1; MIM 131220) and basic (FGF2; MIM 134920) fibroblast growth factors in a reversible manner. It also binds to perlecan (HSPG2; MIM 142461).[supplied by OMIM] 1580863 1885605,16713569,16352855,16324873,16257968,15806171,15489334,12477932,11509569,11407864,11291074,11148217,10753873,9784842,9334727,9982,20634891,20677014,19411256,19668233,20450993 9982 NM_005130,AC005798,AF149412,CH471069,AK291307,BC003628,BC008910,BC018852,BQ435589,BX434467,CR593039,M60047 NP_005121,AAD39216,EAW92748,BAF83996,AAH03628,AAH08910,AAA58636,Q14512 Hs.1690 FGFBP|HBP17 17 kDa HBGF-binding protein|17 kDa heparin-binding growth factor-binding protein|FGF-BP|FGF-BP1|FGF-binding protein 1|FGFBP-1|OTTHUMP00000123370|fibroblast growth factor-binding protein 1|heparin-binding growth factor binding protein protein-coding 1602454 FGFBP2 fibroblast growth factor binding protein 2 This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq Staff] 12975309,12477932,11342666,12322897,15489334,16652150,15898988 83888 NM_031950,AC005598,CH471069,AB021123,AF361936,AY358978,BC025720,CN480296 NP_114156,EAW92749,BAB39770,AAK51503,AAQ89337,AAH25720,Q9BYJ0,ABM82988,ABM86182 Hs.98785 HBP17RP|KSP37 37 kDa killer-specific secretory protein|FGF-BP2|FGF-binding protein 2|FGFBP-2|HBp17-RP|HBp17-related protein|fibroblast growth factor-binding protein 2|killer-specific secretory protein of 37 kDa protein-coding 1347294 FGFBP3 fibroblast growth factor binding protein 3 18669637,15489334,15164054,12477932,16303743 143282 NM_152429,AL359198,CH471066,CS051215,AK075410,AK315427,BC025966,DQ503576,DR759872 NP_689642,EAW50104,CAI72103,BAC11602,BAG37815,AAH25966,ABF56582,Q8TAT2 Hs.466120 C10orf13|FGF-BP3|MGC39320 FGF-binding protein 3|FGFBP-3|chromosome 10 open reading frame 13|fibroblast growth factor-binding protein 3 protein-coding 732290 FGFR1 fibroblast growth factor receptor 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1580863,704404 20117945,20606682,20634891,20672350,20717167,20103604,1846977,2159626,2167437,8753773,9660748,10748122,17086194,7874169,10918587,9139660,16597617,19489874,19458078,19453261,19330026,19258500,19224897,19211868,19096867,19082464,18978678,18940940,18829480,18790757,18723471,18719360,18682503,18669637,18665077,18593464,18480409,18469019,18463157,18415014,18411303,18315732,18231572,18216705,18171671,18160472,18059337,18042549,18034870,17963255,17893707,17696196,17671674,17545628,17414280,17397528,17389761,17366557,17360555,17343269,17318851,17255109,17154279,17121884,16949906,16882753,16876430,16807244,16807070,16764984,16757108,16685373,16606836,16598308,16470795,16424058,16365308,16344560,16335952,16316338,16305343,16188231,16186508,16091423,15955231,15929978,15863034,15845591,15817662,15774903,15767480,15695515,15680705,15625620,15618886,15613419,15605412,15564375,15558020,12651930,12627230,12614330,12604616,12601080,12594223,12573278,12477932,12440521,12411316,12397010,12373339,12181353,12141425,12121226,12080186,12031912,12020352,11919391,11877385,11759058,11746971,11693202,11486033,11459840,11257130,11173846,11090629,11032250,11030354,10950949,10830168,10751172,10713090,10629055,10574949,10551883,10490103,10464310,10336501,9949182,9655399,9632781,9480847,9373149,9212826,8929854,8756477,8752212,8737680,8692946,8663044,15509650,15489334,15316024,15297314,15273729,15117958,15096041,15001591,14702039,14636241,14587039,14513299,12799194,12794748,12791257,12746216,8622701,8417497,8386828,8125298,8074689,7789168,7761103,7680645,7537362,7516330,7514169,2554327,2162671,1722683,1722570,1697263,1689310,1662973,1652059,1650441,1380281,1379698,1379697,1317750,8576175,20362962,20932831,20389169,11353842,11401320,16440004,18563556,19574212,19658100,19663702,19665973,19666467,19696444,19727229,19730683,19802384,19820032,19822079,19890272,19920251,19920824,19923290,20036812,20068287,20179196,20379614,20388777,20544801,20024612,20538960,20643727,20734064,21041608,19728793,20536592,10579907,20389085 2260 NM_023105,NM_023106,NM_023110,NM_015850,NG_007729,A29216,AC087623,AY585209,CH471080,AB208919,AF173898,AK001052,AK024388,AK094303,AK130555,AK222718,AK223126,AK291754,AK292470,X66945,Y00665,AK309947,AW206093,BC015035,BC018128,BC091494,BQ774633,BX649167,CX756209,CX757985,DB300904,EU826596,EU826597,FJ809916,FJ809917,M34185,M34186,M34187,M34188,M34641,M37722,M60485,M63887,M63888,M63889,X51803,X52833,X57118,X57119,X57120,X57121,X57122,NM_001174063,NM_001174064,NM_001174065,NM_001174066,NM_001174067 NP_075593,NP_075594,NP_075598,NP_056934,CAA01958,AAS79322,EAW63303,EAW63304,EAW63305,EAW63306,EAW63307,EAW63308,EAW63309,EAW63310,EAW63311,EAW63312,EAW63313,EAW63314,EAW63315,EAW63316,BAD92156,AAQ13645,BAD96438,BAD96846,BAF84443,BAF85159,CAA40404,CAA47375,CAA68679,P11362,Q53G05,Q59H40,Q7Z2S2,ABM85925,AAH15035,AAH18128,AAH91494,ACF47632,ACF47633,ACO38645,ACO38646,AAA35836,AAA35837,AAA35838,AAA35839,AAA35835,AAA75007,AAA35840,AAA35958,AAA35959,AAA35960,CAA36101,CAA37015,CAA40400,CAA40401,CAA40402,CAA40403,NP_001167534,NP_001167535,NP_001167536,NP_001167537,NP_001167538 Hs.264887 BFGFR|CD331|CEK|FGFBR|FLG|FLJ99988|FLT2|HBGFR|KAL2|N-SAM|OGD FGFR-1|FLT-2|FMS-like tyrosine kinase 2|OTTHUMP00000190875|OTTHUMP00000190876|OTTHUMP00000190880|bFGF-R-1|basic fibroblast growth factor receptor 1|fibroblast growth factor receptor 1|fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)|fms-related tyrosine kinase 2|heparin-binding growth factor receptor|hydroxyaryl-protein kinase|proto-oncogene c-Fgr|soluble FGFR1 variant 1|soluble FGFR1 variant 2 2314765,2314776 GLUCO100_H,GLUCO101_H protein-coding 1313011 FGFR1OP FGFR1 oncogene partner This gene encodes a largely hydrophilic protein postulated to be a leucine-rich protein family member. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. This gene is thought to play an important role in normal proliferation and differentiation of the erythroid lineage. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq] 10373756,9949182,19068216,17888034,16690081,16314388,15489334,15144186,14654843,14574404,12969958,12477932,11689702,18782753,11076968,12221128,12852856,16462731,17540176,18587394,20237496,20379614,20526339,7790358,20570966 11116 NM_007045,NM_194429,CH471051,Z94721,AJ420472,AK289846,AK294950,AK312791,BC011902,BC037785,BU625682,Y18046,FB749996 NP_008976,NP_919410,EAW47509,EAW47510,CAI19642,CAI19643,BAF82535,BAG58025,BAG35652,AAH11902,AAH37785,CAA77020,O95684,ABM83963,ABM87277,CAT02177 Hs.487175 FOP FGFR1 oncogene partner|fibroblast growth factor receptor 1 oncogene partner protein-coding 1348205 FGFR1OP2 FGFR1 oncogene partner 2 20734064,15034873,14702039,12477932,11042152,18782753,16344560,16946300,19615732,19959814 26127 NM_015633,AC024093,AC024896,CH471094,AF161472,AK001534,AL117608,AY506561,BC032143,AF086411,AK094888,AL117545,BI829470,CS185533,DA388639,NM_001171887,NM_001171888 NP_056448,EAW96540,EAW96541,AAF29087,BAA91745,CAB56012,AAR91611,AAH32143,Q9NVK5,CAJ42714,NP_001165358,NP_001165359 Hs.591162 DKFZp564O1863|DKFZp586C1423|FLJ37569|HSPC123-like|WIT3.0 FGFR1 oncogene partner 2|fibroblast growth factor receptor 1 oncogene partner 2|wound inducible transcript 3.0 protein-coding 736865 FGFR2 fibroblast growth factor receptor 2 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 2289657,2289658,2289660,2289664,2289728,2289733,2289845,2289862,2289084,2289746,2289086,2301188,2301190,2301189,2301192,2301194,2301193,2301191,1580863,704404 20554749,20605201,20634891,20640597,20677155,20717167,1400433,1697263,8676562,10618369,12591959,17981115,17133345,12493773,11294897,19500394,19469636,19453261,19362549,19351817,19287982,19285943,19277121,19243295,19232126,19223389,19212647,19211868,19147536,19111446,17251833,17243131,17189145,16984257,16844695,16842598,16807244,16709412,16603716,16501574,16440883,16418739,16410617,16391783,16384934,16373332,16365308,16219767,16216128,16210019,16188231,16141466,16091423,16061565,15931389,15930103,15863034,15840724,15829502,15796961,15728256,15643506,15632068,15622262,15618886,15602758,15561780,15523492,15516981,15489334,15389579,15282208,15229180,15206560,15190072,15146197,15105428,15069536,14624010,14559809,18315732,18285324,18247426,18216705,18056630,18049087,17997823,17944804,17850625,17803937,17760502,17699848,17692400,17682060,17622301,17545628,17537644,17529973,17529967,17525745,17525264,17512901,17482184,17459342,17458890,17449949,17414280,17343269,17264867,20809772,21160077,20538960,20853316,20959865,21048031,21060860,20348248,20093481,20798558,20872241,20664043,19103595,19095219,19094228,19060208,19028704,18973230,18845558,18840094,18829569,18829480,18813210,18804962,18785201,18767044,18757403,18726952,18671283,18636142,18629881,18593464,18573884,18483326,18462018,18437204,18393251,18391499,18387281,18381441,18374639,18373495,18355772,18337450,19106113,12893942,12692135,12684693,12684685,12648559,12618336,12608893,12529371,12482414,12477932,12393912,12373339,12168799,12162872,12122441,12072807,12032146,12000365,11937263,11876253,11856867,11781872,11759058,11693202,11556600,11493535,11390973,11380921,11325814,11292657,11173845,11069186,10951518,10950949,10945669,10830168,10751172,10712195,10626794,10574673,10394936,10196476,9719378,9714439,9693549,9677057,9585583,9582367,9521581,9385368,9300181,9266968,9212826,9152842,9150725,9018118,9002682,8958319,8956050,8946174,8889548,8696350,8673103,8663044,8644708,8576175,8528214,8434615,8417497,8355693,8188211,7999363,7987400,7874170,7866434,7719345,7719344,7719333,7687739,7668257,7655462,7581378,7528517,2377625,2172978,1846048,1674718,1652059,1648704,1647213,1582255,1380281,1313574,1309608,20124286,20620021,20635358,20453838,20214895,10579907,11353842,11923311,14732692,16385451,16597614,17471512,17593825,17953372,17959718,18563556,19224135,19330030,19403560,19434818,19497954,19509166,19536173,19582883,19590514,19608737,19617217,19656774,19735729,19789366,19812598,19822079,19843670,19856316,19861516,19923290,19937600,20043066,20054709,20056625,20106510,20145138,20193855,20237344,20300826,20364400,20379614,20388777,20410112,20417875,20502973,8386828,19728793 2289657,2289658,2289660,2289664,2289728,2289733,2289845,2289862,2289084,2289746,2289086,2301188,2301190,2301189,2301192,2301194,2301193,2301191 2263 NM_001144917,NM_000141,NM_022970,NM_001144915,NM_001144916,NM_001144914,NM_001144919,NM_001144913,NG_012449,AC009988,AF097340,AF097341,AF097353,AF097354,AF169399,AF360695,AF487553,CH471066,NM_001144918,CS173036,DQ493927,L49237,L49238,L49239,L49240,L49241,L49242,S40853,S40858,S41870,S41873,S82438,Y17131,AB030073,AB030074,AB030075,AB030076,AB030077,AB030078,AB084153,AK026508,AK294026,AK308621,BC037338,BC039243,BC096749,CB305736,CN345547,CX873387,EU826598,EU826599,EU826600,EU826601,M55614,M80634,M87770,M87771,M87772,M97193,S41878,U11814,X52832,X56191,Z71929,EF057068 NP_001138390,NP_001138389,NP_000132,NP_075259,NP_001138387,NP_001138388,NP_001138386,NP_001138391,NP_001138385,AAD31562,AAD31561,AAD31567,AAD31560,AAD31565,AAF43273,AAF43274,AAK94205,AAK94206,AAK94207,AAK94208,AAK94209,AAM74056,EAW49338,EAW49339,EAW49340,EAW49341,EAW49342,EAW49343,EAW49344,EAW49345,EAW49346,EAW49347,EAW49348,EAW49349,EAW49350,EAW49351,EAW49352,EAW49353,EAW49354,EAW49355,EAW49356,EAW49357,EAW49358,EAW49359,EAW49360,CAJ33699,ABE96832,AAC41933,AAC41935,AAC41936,AAC41937,AAC41938,AAC41934,AAB19319,AAB19320,AAB19321,AAB19322,AAD14392,CAA76643,BAA89296,BAA89297,BAA89298,BAA89299,BAA89300,BAA89301,BAC45037,BAG57383,AAH39243,ACF47634,ACF47635,ACF47636,ACF47637,AAA61188,AAA36147,AAA59470,AAA59471,AAA59472,AAA52449,AAB19323,AAA68514,CAA37014,CAA39654,CAA96492,P21802,Q16888,Q7KZ14,Q8IXC7,Q9UEH2,Q9UMA9,Q9UMB0,ABO25744 Hs.533683 BEK|BFR-1|CD332|CEK3|CFD1|ECT1|FLJ98662|JWS|K-SAM|KGFR|TK14|TK25 BEK fibroblast growth factor receptor|FGF receptor|FGFR-2|OTTHUMP00000020623|OTTHUMP00000020624|OTTHUMP00000020626|OTTHUMP00000020627|OTTHUMP00000020628|OTTHUMP00000020630|OTTHUMP00000020632|bacteria-expressed kinase|fibroblast growth factor receptor 2|fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)|hydroxyaryl-protein kinase|keratinocyte growth factor receptor|protein tyrosine kinase, receptor like 14|soluble FGFR4 variant 4 protein-coding 733044 FGFR3 fibroblast growth factor receptor 3 This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq] 2289863,2289865,2289866,2289868,2289864,2289867,2301222,2301225,2301223,2301224,1580863,704404,1598937 20634891,20646825,20717167,16210019,16169070,16149130,16091423,16061860,15940250,15915095,15880580,15869706,15788896,15772091,15701828,15558020,15517832,15322115,15292251,15241680,15221641,15105428,15026322,14751560,14715624,14678961,14667819,14606518,14562121,17392824,17384684,17375526,17343269,17320202,17256796,17255960,17240035,17114345,17070479,17033969,16885334,16877735,16849642,16841094,16778799,16685373,16634636,16570285,16532037,16501574,16467200,16434832,16412606,16410555,16384584,16365308,16288035,16278395,16278391,16274647,17414280,14520460,12929929,12921294,12833394,12817007,12764678,12707965,12664252,12637327,12626508,12624096,12576423,12477932,12461689,12433679,12424440,12373339,12368206,12368157,12297284,12244095,12048679,12032146,12009017,11940572,11906172,11839738,11827956,11759058,11754059,20972438,14732692,10918587,8601314,11294897,16597617,19621447,19551630,19453261,19449430,19449410,19407216,19404844,19381019,19377444,19351817,19327639,19287463,19286672,19255125,19215249,19156776,19088846,19076977,19073250,19070887,18945538,18923003,18818193,18642369,18584939,18583390,18567530,18528286,18503601,18485666,18336810,18231634,18231572,18216705,18199430,18166262,18072261,18036184,18000976,18000903,17950653,17875876,17867603,17867592,17803960,17785202,17683901,17668422,17624273,17621485,17602067,17585316,17561467,17554105,17509076,11703096,11556601,11529856,11426459,11424131,11350938,11329138,11325814,11314002,11134040,11055896,11030304,10777366,10751172,10671061,10648414,10574949,10471491,11731410,10425034,10395236,10361991,10360402,8841188,8663044,8626374,8599935,8599370,8589699,8589686,8576175,8530501,8428519,8081365,8078586,8012398,8012397,7913883,7847369,7773297,7758520,7690989,7670477,7657660,7649548,7647778,7543024,7495869,7493034,2247464,1847508,1664411,10360392,10215410,10094188,10073901,10053006,9950339,9843049,9842995,9790257,9677066,9672519,9585583,9580776,9525367,9452043,9279753,9212826,9207791,9142922,9126476,9107244,9045692,9042914,8858131,8845844,7923141,18677770,17507011,14551213,11746040,10360393,19863427,20643727,20393505,20539070,19728793,19845664,20348956,10579907,10652257,12815063,18718050,19594619,19694823,19722178,19729838,19752524,19761767,19812598,19821490,19837276,19838370,19843069,19843843,19855393,19888223,19898608,19901323,19909015,20234367,20404005,20420824,20542753,20538960,20824703,21048031,21072204,20673820 2289863,2289865,2289866,2289868,2289864,2289867,2301222,2301225,2301223,2301224,1598937 2261 U22410,AB209441,AF238374,AF245114,AF369211,AF369212,AF369213,AK308936,AW204106,BC121175,BC128610,BC153824,DR003490,M58051,M59374,M64347,X84939,NM_022965,NM_001163213,NG_012632,AC016773,AF487554,AY768549,CH471131,S76733,NM_000142 AAB33323,AAA67781,BAD92678,AAF97749,AAF63380,AAK54727,AAK54728,AAK54729,AAI21176,AAI28611,AAI53825,AAA52450,AAA63209,AAA58470,CAA59334,P22607,Q0IJ44,Q59FL9,Q8NI15,Q8NI16,Q96T34,Q96T35,Q96T36,Q9NRB6,AAI66684,NP_000133,NP_075254,NP_001156685,AAM22078,AAM22079,AAU89726,EAW82562,EAW82563,EAW82564,EAW82565,EAW82566,EAW82567,EAW82568 Hs.1420 ACH|CD333|CEK2|HSFGFR3EX|JTK4 FGFR-3|OTTHUMP00000149958|OTTHUMP00000149959|OTTHUMP00000217007|achondroplasia, thanatophoric dwarfism|fibroblast growth factor receptor 3|hydroxyaryl-protein kinase|tyrosine kinase JTK4 protein-coding 1347116 FGFR3P fibroblast growth factor receptor 3 pseudogene 387121,100462812 AL671883,AL845443,BX248310,CR318637,NG_025930,AL669854 D84394.2|FGFR3P pseudo 3051025 FGFR3P2 fibroblast growth factor receptor 3 pseudogene 2 100462815 AP001877,NG_021799 pseudo 3051024 FGFR3P3 fibroblast growth factor receptor 3 pseudogene 3 100462816 AL109618,NG_021985 pseudo 3051031 FGFR3P4 fibroblast growth factor receptor 3 pseudogene 4 100420833 AC026355,NG_022229 pseudo 3028766 FGFR3P5 fibroblast growth factor receptor 3 pseudogene 5 100420952 AC023824,NG_022502 pseudo 3051029 FGFR3P6 fibroblast growth factor receptor 3 pseudogene 6 100420881 AL390728,NG_022833 pseudo 736644 FGFR4 fibroblast growth factor receptor 4 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq] 1580863 20565774,20634891,20638838,20644561,20660043,20691689,20657013,20798051,10918587,11294897,16597617,19500394,19296538,19240166,19237543,19008009,18949411,18762813,18756523,18670643,18593907,18593464,18487077,18349267,18315732,18310279,17664243,17599042,17519899,17487277,17084840,16822847,16721364,16210019,16109476,16091423,16061909,16012724,15750181,15564323,15489334,15448004,15340161,15322115,15231874,15075241,15070963,14710228,14601095,14551213,12817007,12815007,12642581,12637327,12626508,12576423,12477932,12373339,12244095,11981041,11958417,1709094,1385111,1377018,1322355,2247464,1720539,11830541,11781352,11759058,11549253,11350938,11271786,10751172,10736564,10691305,10631118,10525310,10336501,9457674,9373149,9212826,9211733,9168198,8663044,8626374,8576110,8530375,8125298,8099571,7690989,7680645,7657660,7543024,7518429,11839738,11940572,20876804,14534538,16365308,18070145,19407855,19730683,19809159,19918264,19946327,20018895,20066896,20127014,20147743,20453000,20844967,10579907 2264 AAB25788 AK225280,AK225909,AK301169,BC011847,BF307233,EU826602,EU826603,L03840,M59373,X57205,AB209631,NM_002011,NM_022963,NG_012067,AC027314,AF487555,CH471195,EF571596,X68559,Y13901,AF202063,AF359241,AF359246,NM_213647 BAG62757,AAH11847,ACF47638,ACF47639,AAB59389,AAA63208,CAA40490,AAB25788,P22455,Q59F30,Q6LBK2,Q96KE5,BAD92868,ABM84384,ABM87347,NP_998812,NP_002002,NP_075252,AAM13666,EAW85034,EAW85035,EAW85036,EAW85037,ABQ01235,CAB75718,CAA74200,AAF27432,AAK43714,AAK51435 Hs.165950 CD334|JTK2|MGC20292|TKF FGFR-4|OTTHUMP00000161430|OTTHUMP00000223539|fibroblast growth factor receptor 4|hydroxyaryl-protein kinase|protein-tyrosine kinase|tyrosine kinase related to fibroblast growth factor receptor|tyrosylprotein kinase protein-coding 1343286 FGFR6 fibroblast growth factor receptor 6 9098453,8864177,8307783 2265 L25647,U49177 fibroblast growth factor receptor 6 protein-coding 1354107 FGFRL1 fibroblast growth factor receptor-like 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq] 1580863 11031111,19056490,18061161,16273302,16019430,15489334,15340161,14702039,12975309,12813049,12477932,11418238,11267671,9373149,8125298,19920134,20024584,20453000,20851884,19913121,20628086 53834 NM_001004356,NM_001004358,NM_021923,AC019103,CH471131,AF279689,AF312678,AJ277437,AK000530,AK022597,AK172829,AK225486,AK314365,AV707425,AY358303,BC002537,BC013955,BC015228,BC036769,BQ689625 NP_001004356,NP_001004358,NP_068742,EAW82615,AAK26742,AAK15273,CAC14171,BAA91234,BAD18794,BAG36996,AAQ88670,AAH15228,AAH36769,Q6ZMD4,Q8N441,Q9NWZ1,ABM83343,ABM86557 Hs.193326 FGFR5|FHFR FGF homologous factor receptor|FGF receptor-like protein 1|FGFR-5|FGFR-like protein|OTTHUMP00000147526|OTTHUMP00000217470|OTTHUMP00000217471|OTTHUMP00000217472|fibroblast growth factor receptor 5|fibroblast growth factor receptor-like 1 protein-coding 731481 FGG fibrinogen gamma chain The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 2312416,1599810,737710,1580863 19913121,20628086,20709368,19650644,19687509,19923982,19948975,20031577,20059469,20128871,20167083,20237496,8905624,20508898,20589319,10828988,16005629,16581250,17643375,14691567,12900415,12871494,12663453,12624729,12617173,12477932,12356313,11986220,11986213,11748101,11744726,11562340,11435303,11307817,11073102,11001902,10747940,10467729,10391209,10074346,9712878,9628725,9333233,9207064,9028318,9016719,8756701,8566791,14760718,8404605,8400260,6777381,2742826,5084810,7356959,10605720,8470043,19515723,19492150,19412134,19404553,19332210,19190816,19122172,18989528,18983496,18974842,18848323,18842294,18832913,18779330,18772067,18690352,18676163,18567199,18331453,18278190,18239174,18208536,18202324,18000621,17956865,17951283,17949478,17938819,17883696,17854317,17849064,19059206,19034331,17827388,17688324,17650452,17591786,17565664,17543500,17445871,17403086,17264959,17263791,17241179,17018627,16940416,16928957,16706972,16705085,16614319,16525568,16524883,16420584,16363805,16335952,16263699,16144795,16141000,16113784,16051597,15795540,15773976,15735812,15671034,15641787,15632207,15583736,15489334,15311153,15304042,15284111,15217804,14764520,8080993,7878009,7841300,7822297,7306501,6957371,6933547,6860649,6689067,6688357,6592597,6575689,6575389,6451630,6383194,6326808,6325435,6281794,6092346,6091742,3708159,3563970,3337908,3160702,2990550,2976995,2971046,2971042,2819242,2738036,2665853,2496144,2328317,2257302,2133219,2071611,1892842,1744509,1733971,1455400,1429662,1421174,936108,12501189,8384496,1685103 2312416,1599810,737710 2266 NM_000509,NM_021870,NG_008834,AC107385,AF350254,CH471056,CR596203,CR596270,CR596372,CR597173,CR597461,CR597583,CR598376,CR599176,CR600082,CR600167,CR600169,CR600784,CR601732,CR601921,CR602300,CR603330,CR603524,CR604120,CR604857,CR605967,CR606049,CR606086,CR606542,CR607977,CR610398,CR613445,CR613832,CR613963,CR614405,CR614460,CR614633,CR615925,CR616261,CR616498,CR616673,CR617318,CR617434,CR619370,CR619788,CR620626,CR621472,CR621479,CR621582,CR621704,CR622150,CR622544,CR623516,CR625286,CR625334,CR626056,CR626172,CR626427,X00086,X51473,M10014,AA936960,AI808530,AK289422,AK290824,AL531173,BC007044,BC021674,BG567044,BT007081,BX538098,CR590161,CR591032,CR591151,CR591512,CR593074,CR593582,CR593597,CR594875,CR595094,K02569 NP_000500,NP_068656,AAK19751,AAK19752,EAX04905,EAX04906,EAX04907,EAX04908,EAX04909,EAX04910,EAX04911,EAX04912,EAX04913,EAX04914,EAX04915,EAX04916,EAX04917,EAX04918,EAX04919,EAX04920,EAX04921,EAX04922,EAX04923,CAA24944,CAA35837,P02679,Q7Z664,AAA52430,AAA52431,AAB59530,AAB59531,BAF82111,BAF83513,AAH07044,AAH21674,AAP35744,CAD98014 Hs.713625 OTTHUMP00000197059|OTTHUMP00000197060|fibrinogen gamma chain|fibrinogen, gamma polypeptide protein-coding 1605365 FGGY FGGY carbohydrate kinase domain containing 19193627,19875103,19922123,19922138,20001489,20379614,20800603,17671248,19177248,19125359,16344560,14702039,12477932 55277 NM_018291,NM_001113411,AC093424,AL035416,AL390234,AL713859,AL954338,BX119322,CH471059,AA830864,AK001848,AK022237,AK054842,AK090568,AK315649,BC000610,BC014947,BX647626,CR599846,CR607394,CR609789,CR623798,DA969344 NP_060761,NP_001106882,CAI22775,CAI22777,CAI18947,CAI18948,CAI18949,CAH71626,CAH71628,CAH71629,CAH71630,CAI22209,CAI22210,CAI22211,EAX06619,EAX06620,EAX06621,EAX06622,EAX06623,EAX06624,BAA91940,BAB13993,BAG51432,BAG52187,BAG38015,AAH14947,Q96C11,Q9NV20 Hs.444301 FLJ10986|RP11-242B9.1 FGGY carbohydrate kinase domain-containing protein|OTTHUMP00000010082|OTTHUMP00000202071 protein-coding 737041 FGL1 fibrinogen-like 1 Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq] 19913121,20628086,9373149,8125298,8390249,19304666,18039467,17805225,16996032,15489334,15063762,14981537,12624729,12477932,11470158,19817957,20379614,20800603 2267 NM_004467,NM_201552,NM_147203,NM_201553,AC087273,CH471080,DQ086826,AF042354,AF168954,AK225616,AK225619,AK289448,AL514837,AL531132,BC007047,BG565379,BG566131,BG567956,BG618053,BT006635,CR598703,CR601452,CR605214,CR609821,CR617376,CR621007,D14446,D87342 NP_004458,NP_963846,NP_671736,NP_963847,EAW63799,EAW63800,EAW63801,EAW63802,EAW63803,AAY68216,AAM88911,BAF82137,AAH07047,AAP35281,BAA03336,BAB70690,Q08830,Q8NG32 Hs.491143 HFREP1|HP-041|LFIRE1|MGC12455 LFIRE-1|OTTHUMP00000122468|fibrinogen-like protein 1|fibronigen-like protein 1|hepassocin|hepatocellular carcinoma-related sequence|hepatocyte-derived fibrinogen-related protein 1|liver fibrinogen-related protein 1 protein-coding 1347654 FGL2 fibrinogen-like 2 The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq] 1580863 20438701,7642106,18932275,18801734,18390877,16437596,16344560,16335952,15905589,15490304,15489334,12690205,12624729,12477932,11170750,9647217,9373149,8125298,1602151,19423547,19590927 10875 NM_006682,AC007000,AF104015,AF468959,CH236949,CH471091,AK222999,AK312672,BC017813,BC033820,BC073986,CR610336,DB247183,Z36531 NP_006673,AAD10825,AAL68855,EAL24202,EAW77045,BAD96719,BAG35554,AAH17813,AAH33820,AAH73986,CAA85298,Q14314,Q53GD2,Q8WWE4,ACT64483,ACT64484 Hs.520989 T49|pT49 fibrinogen-like protein 2|fibroleukin protein-coding 733253 FGR Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 15919723,17164290,20056178,15459198,20098747,2995972,3003578,17845055,16710414,16344560,15723811,15561106,15489334,15098032,14702039,12477932,12473651,12468645,12435267,12387813,12387730,12096713,11928806,11823534,11744621,11672534,11546677,11526478,11162638,11071635,10973280,10702640,10527858,10358777,10229804,10080533,10066823,9208935,8867673,8824280,8753773,8612628,8313462,7812001,7726865,7721825,7678701,7565724,7515063,3922831,3330776,3275868,3023853,2852026,2581127,2154410,1847500,1826268,1690869,1652975,1373875,1339476,8805332,12482968 2268 NM_005248,NM_001042729,NM_001042747,AL031729,CH471059,CQ834776,K03219,M12502,M19721,M63877,X52205,X52207,Z13983,Z13989,AK125143,AK130188,AK301078,BC064382,BI771758,BQ448283,BX495937,CR600467,CR604589,DA139476,DA952771,DA960178,M19722,M27454 P09769,P78453,P78483,Q5TGY6,Q7KZ45,NP_005239,NP_001036194,NP_001036212,CAB62998,CAI19617,EAX07748,EAX07749,EAX07750,CAH05603,AAA60585,AAA52762,AAA52452,CAA36457,BAH13403,AAH64382,AAA52451,AAA35679 Hs.1422 FLJ43153|MGC75096|SRC2|c-fgr|c-src2|p55-Fgr|p55c-fgr|p58c-fgr OTTHUMP00000003603|OTTHUMP00000003604|c-fgr protooncogene|c-src-2 proto-oncogene|p55-c-fgr protein|proto-oncogene c-Fgr|proto-oncogene tyrosine-protein kinase FGR|tyrosine-protein kinase Fgr protein-coding 1350842 FGS1 FG syndrome 1 9375929 2269 1348240 FGS2 FG syndrome 2 11078572 2270 1352068 FGS3 FG syndrome 3 12239712 93985 735599 FH fumarate hydratase The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq] 1580863,2306828,1598939 20677014,18029348,20877624,20231875,8200987,3828494,19276158,19151755,19075141,18986479,18728283,18514489,18503824,18313410,18257390,17908262,17476294,16881969,16774737,16757530,16639410,16597677,16477632,16319128,16237213,16098467,15937070,15724016,15489334,15334541,14632190,12772087,12612654,12477932,12021453,11865300,9635293,4018793,2759092,975868,434773,20549362,17960613,12177782,16344560,19064571,19470762,19546378,19626040,19963135 2306828,1598939 2271 NM_000143,NG_012338,AL359764,AL591898,AL606476,CH471098,AK312415,BC003108,BC017444,BT009839,CR590170,CR594789,CR615302,M15502,U48857,U59309,AA669797,AW611924,DA129148 NP_000134,CAI15144,CAI13908,CAI14951,EAW70090,EAW70091,EAW70092,EAW70093,BAG35325,AAH03108,AAH17444,AAP88841,AAA52483,AAD00071,AAB66354,P07954,ABW03809 Hs.592490 HLRCC|LRCC|MCL|MCUL1 fumarase|fumarate hydratase 1|fumarate hydratase, mitochondrial protein-coding 1605889 FHAD1 forkhead-associated (FHA) phosphopeptide binding domain 1 16710414,16344560,15489334,14702039,12477932,11572484,20379614 114827 NM_052929,AL031283,AL158174,AL391094,AB067524,AK057963,AK093300,AK093883,AK096961,AK296920,AL833342,BC015238,BC027293,BX641070,DA918616 NP_443161,CAI21423,CAI21424,CAI21425,CAI21426,CAI21427,CAI21428,CAI21429,CAI21811,CAI23268,BAB67830,BAC04126,BAC04242,BAC04913,BAG59474,B1AJZ9,Q5JYW1,Q5JYW2,Q5JYW6,Q5JYW7,Q96PV1 Hs.659997 DKFZp686G2134|DKFZp686P19183|FLJ31291|KIAA1937|RP3-467K16.1 FHA domain-containing protein 1|forkhead-associated domain-containing protein 1 protein-coding 1604560 FHDC1 FH2 domain containing 1 17362836,15138637,14702039,11214970,8889549,16341674 85462 NM_033393,AC093599,CH471056,AB051514,AK172734,BI766662,BQ082418,T83061,W80711 NP_203751,EAX04967,BAB21818,Q9C0D6 Hs.132629 KIAA1727 FH2 domain-containing protein 1|OTTHUMP00000220256 protein-coding 1344220 FHIT fragile histidine triad gene This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. [provided by RefSeq] 1302481,2289869,2289870,2289871,2289872,2289874,2289878,2289879,2289894,2289896,2289897,2289898,2289899,2289903,2289905,2289906,2301232,2301231,2301235,2301233,2298508,1580863 19913121,20628086,20689140,20690795,18029348,20864512,21182207,16217683,16189514,16115913,15998374,15935551,15929169,15902282,15835917,15798093,15674328,15633221,15569992,15489891,15489334,15480422,15384174,15361849,15328196,15246872,15231689,15219888,15182206,15080505,15080495,15073846,15060557,15044096,15026336,14991669,14760383,14719099,14719066,14702039,14675322,14660280,14630947,14569398,14566838,12969785,12964015,12926121,12893195,12890991,12839965,12833632,12800227,16231322,12698186,12697969,12627509,12529969,12483524,12477932,12452072,12419158,12362975,12353263,12231533,12177781,12169206,12119013,12090476,12067991,12057912,12048684,12007194,11915181,11902576,11891319,11809703,11788890,11768238,11731438,11085938,10706123,9824201,9671749,9583683,8794732,18319262,15007172,19622739,19621594,19452299,19419937,19418484,19414370,19401904,19339270,19286306,19267103,19240061,19130459,19096006,19004824,18985481,18953408,18690840,18618300,18608185,18595145,18567082,18517280,18494825,18426086,18378390,18367246,18338497,18338496,18299890,18247301,18221322,18162546,18097574,18091387,18077326,18038314,18006149,17846126,17712558,17694439,17671701,17609851,17596760,17548701,17393360,17382535,17374991,17373735,17359554,17348444,17328863,17164758,17143956,17142325,17137614,17119051,17029211,16990010,16963412,16864578,16773697,16763940,16740775,16733051,16699861,16698048,16570269,16533421,16513840,16359767,16344560,16242161,9537583,9366528,9323207,9290949,9261067,9012482,8824874,8661111,8640789,8598045,3864602,9576908,19760177,20606729,15949315,20510001,20458975,20399571,17380463,17562266,18821565,19434452,19502167,19730990,19751438,19931269,20060399,20082323,20083852,20083853,20095356,20125088,20306291,20379614,20417865,20435627 1302481,2289869,2289870,2289871,2289872,2289874,2289878,2289879,2289894,2289896,2289897,2289898,2289899,2289903,2289905,2289906,2301232,2301231,2301235,2301233,2298508 2272 GN344061,NG_007551,AC093418,AC093556,AC096917,AC097357,AC098480,AC099536,AC099780,AC104164,AC132808,AC138071,AF023460,AF152363,AF152364,AF152365,AY625256,CH471055,DQ416126,DQ666920,DQ666923,DQ768458,U06118,U39799,U39800,U39801,U40401,U76263,U76264,U76265,U76266,U76267,U76268,U76269,U76270,U76271,U76272,U85047,U88866,AK127931,AK289824,BC032336,BC057223,DA239143,DQ120721,U46922,NM_002012,NM_001166243 CAY55966,NP_002003,AAB84098,AAT37530,EAW65393,EAW65394,ABD93871,ABG02273,ABG02275,ABG81420,AAB52539,AAB53793,BAF82513,AAH32336,AAZ23623,AAA99013,O00298,P49789,Q0MQR8,Q0PUW1,Q194U8,Q194V0,Q1WAB3,Q71VB2,ABM82501,ABM85695,Q45QG9,NP_001159715 Hs.655995 AP3Aase|FRA3B AP3A hydrolase|OTTHUMP00000213128|OTTHUMP00000213224|OTTHUMP00000213225|bis(5'-adenosyl)-triphosphatase|diadenosine 5',5'''-P1,P3-triphosphate hydrolase|dinucleosidetriphosphatase|fragile histidine triad protein|tumor suppressor protein protein-coding 1342641 FHL1 four and a half LIM domains 1 LIM proteins, named for 'LIN11, ISL1, and MEC3,' are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[supplied by OMIM] 1580863,1580798 20571991,7626119,19401155,19181672,19171836,19139564,19075112,18758158,18725486,18465173,18281375,18274675,18244901,18179901,18179888,18073142,17589823,16407297,16344560,15772651,15710417,15610731,15489334,14999091,14702039,12917103,12665801,12477932,12432079,11400158,10524257,10480922,10352231,10049693,20969868,18029348,18482256,19687455,19716112,19850343,20186852,20596604,9714789,9373149,8753811,8125298,9929984,20633900 1580798 2273 AK300966,AK301642,AK304680,BC010998,BC088369,BE965488,BM995585,CR456974,CR605478,CR611627,CR620814,CR621059,DA497183,DC363191,DC373304,DC373386,U29538,U60115,U60118,AL807743,DA917361,DA982372,NG_015895,NM_001167819,NM_001449,NM_001159699,NM_001159700,NM_001159701,NM_001159702,NM_001159703,NR_027621,AF110763,AL078638,CH471150,AF063002,AF098518,AF220153,AK091702,AK094024,AK122708,AK223299,AK289411,AK297124,AK299379,AK299381,AK299450,NM_001159704 BAH13384,BAH13529,BAH14237,AAH10998,AAH88369,CAG33255,AAC35421,AAC52021,AAC50795,Q13642,Q53FI7,Q5JXH7,Q5JXH8,Q5JXH9,Q5JXI0,Q5JXI2,Q5JXI3,Q5JXI8,Q6IB30,ABZ92387,ACE86591,ACE87512,ACE86826,NP_001161291,NP_001440,NP_001153171,NP_001153172,NP_001153173,NP_001153174,NP_001153175,AAD21579,CAC18881,CAI41054,CAI41055,CAI41056,CAI41057,CAI41058,CAI41059,CAI41060,CAI41061,CAI41062,EAW88476,EAW88477,EAW88478,EAW88479,AAC72886,AAC72390,AAF32351,BAG52401,BAG53680,BAD97019,BAF82100,BAH12503,BAH13019,BAH13020,NP_001153176,BAH13036 Hs.435369 FHL1A|FHL1B|FLH1A|KYOT|MGC111107|SLIM1|SLIMMER|XMPMA FHL-1|LIM protein SLIMMER|OTTHUMP00000024098|OTTHUMP00000024100|OTTHUMP00000024101|OTTHUMP00000024102|OTTHUMP00000024103|OTTHUMP00000024104|OTTHUMP00000024106|SLIM|SLIM-1|four and a half LIM domains protein 1|four-and-a-half Lin11, Isl-1 and Mec-3 domains 1|skeletal muscle LIM-protein 1|skeletal muscle LIM-protein1 protein-coding 1350947 FHL2 four and a half LIM domains 2 LIM proteins contain a highly conserved double zinc finger motif called the LIM domain.[supplied by OMIM] 1580863 20592280,15572661,18255255,17975004,18029348,9150430,19465923,19325137,19139564,18680509,18653765,18615633,18356303,18224250,17682292,17416352,17383428,17192406,17145880,17093190,16652157,16378916,16355270,16343438,16341674,16311053,15692560,15572674,15489334,15453830,15342556,15161045,15117962,14680945,14550570,12477932,12466281,12432079,12145280,12067710,11821401,11813260,11161712,11135358,11124707,11062252,11046156,11001931,10906324,10654935,10649446,9573400,8753811,18768464,11099500,12151099,15231748,15509787,16184196,16619241,16713569,16888242,19417068,19815066,12411495,14729955,14986435,15666801,12358155,15610731,20607723,19265191,20460358,20734429 2274 NM_201557,NM_001450,NM_201555,NM_001039492,NG_008844,AB038794,AC012360,AC068273,AC108058,CH471127,AA758053,AB158503,AK313841,AY634685,BC012742,BC014397,BC036085,BC093049,BI092736,BM836767,BP257466,BT006960,BX340370,CB989635,CF552311,CR457437,CR594847,CR595150,CR604413,CR605289,CR606106,CR608826,CR615688,CR615852,CR616017,CR617985,CR623221,CR624743,CR624937,CR626389,CR626700,CR936682,CR936799,DQ266432,DQ307067,L42176,U29332,U60117 ABM87334,ABW03875,Q6I9R8,NP_963851,NP_001441,NP_963849,NP_001034581,BAA92253,AAY15012,AAY14896,EAX01758,EAX01759,EAX01760,BAD69710,BAG36573,AAV35468,AAH12742,AAH14397,AAH93049,AAP35606,CAG33718,ABB73038,ABC25549,AAA85333,AAC52073,AAC50794,Q14192,Q2I5I4,Q2TSB7,Q2XQU9,Q53QP3,Q53T40,Q5TM15 Hs.443687 AAG11|DRAL|FHL-2|SLIM-3|SLIM3 LIM domain protein DRAL|aging-associated gene 11|down-regulated in rhabdomyosarcoma LIM protein|four and a half LIM domains protein 2|four and a half LIM-domain protein 2|skeletal muscle LIM-protein 3 protein-coding 1316216 FHL3 four and a half LIM domains 3 LIM proteins are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[supplied by OMIM] 1580863 20936779,10049693,19139564,17389685,15453830,15117962,12704194,12681290,12556451,12477932,11135358,10226657,8753811,12145280,11046156,16189514,15610731,14729955,20586194 2275 NM_004468,AL603790,CH471059,AF133732,AK290641,AK309179,BC001351,BC011697,BC014501,BT007052,BX384389,CR457425,CR590698,CR592415,CR597013,CR599922,CR601712,CR604590,CR604640,CR604728,CR607994,CR613498,CR616103,CR617934,CR618213,CR619025,CR620303,CR622019,CR622484,CR623890,CR625653,U60116,CR590048 NP_004459,CAH69931,EAX07301,EAX07302,AAF61376,BAF83330,AAH01351,AAH11697,AAH14501,AAP35701,AAC04466,Q13643,Q96C98,Q9P100,ABM92212,ABM84689,CAG33706,ABM86964 Hs.57687 MGC19547|MGC23614|MGC8696|SLIM2 FHL-3|LIM-only protein FHL3|SLIM-2|four and a half LIM domains protein 3|skeletal muscle LIM-protein 2 protein-coding 1316022 FHL5 four and a half LIM domains 5 The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. [provided by RefSeq] 19913121,20628086,20471030,20488182,17368652,16713569,16687568,16189514,15761153,15610731,14702039,14574404,12493914,12477932,12039695,11420126,11327716,11046156,10086359,9373149,8125298,15489334,20378615 9457 NM_020482,AL132776,CH471051,CS300692,AF278541,AI425084,AI784680,AK057611,AK058175,AK223539,AK314608,BC011015,BC021723,BC029490,DB446146,NM_001170807 NP_065228,CAB86657,CAI20400,EAW48503,EAW48504,EAW48505,CAK32356,AAF85978,BAG51940,BAD97259,BAG37178,AAH21723,AAH29490,Q5TD97,ABM84588,ABM86580,NP_001164278 Hs.632608 ACT|FLJ33049|KIAA0776|RP3-393D12.2|dJ393D12.2 1700027G07Rik|FHL-5|LIM protein ACT|OTTHUMP00000016880|activator of CREM in testis|activator of cAMP-responsive element modulator (CREM) in testis|activator of cAMP-responsive element modulator in testis|four and a half LIM domains protein 5 protein-coding 1315466 FHOD1 formin homology 2 domain containing 1 This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. 1580863 18694941,18786395,12477932,11590143,14667819,15231747,10352228,18239683,17909294,17013756,16361249,16112087,15878344,15642356,15489334,15302935,15146197,15138285,15095401,15051728,15010865,14576350,12677009,12665801,12665555,18029348,20936779 29109 AK301157,AK304232,NM_013241,AC040160,CH471092,AA609867,AB041046,AB209584,AF113615,AK025992,AY192154,BC033084,CN302043,CR612089,CR620559 BAG62747,BAG65101,Q9Y613,NP_037373,EAW83109,EAW83110,EAW83111,EAW83112,EAW83113,BAD06250,BAD92821,AAD39906,AAO38757,AAH33084 Hs.95231 FHOS FH1/FH2 domain-containing protein 1|formin homolog overexpressed in spleen 1|formin homology 2 domain-containing protein 1 protein-coding 1314439 FHOD3 formin homology 2 domain containing 3 Proteins that contain formin (FMN; MIM 136535) homology (FH) domains, such as FHOD3, play a role in regulation of the actin cytoskeleton (Kanaya et al., 2005 [PubMed 15966898]).[supplied by OMIM] 737633 15966898,15010865,14702039,12477932,11214970,19066393,19706596,20195266,20379614 737633 80206 NM_025135,AC023043,AC055840,AC090333,AC131053,CH471088,AB051482,AB084087,AK025950,AK026370,AK091899,AK128053,AK308859,AL834480,BC031518,BC041040,BC050670,BC058897,BC081563,HM191478 NP_079411,EAX01379,EAX01380,EAX01381,EAX01382,BAB21786,BAC67014,BAB15292,BAB15463,BAG52438,BAC87252,CAD39139,AAH50670,AAH81563,Q2V2M9,AAI56315,AAI57094,ADL62709 Hs.719944 FHOS2|Formactin2 FH1/FH2 domain-containing protein 3|formactin-2|formin homolog overexpressed in spleen 2|hFHOS2 protein-coding 1319244 FIBCD1 fibrinogen C domain containing 1 737633 14702039,12975309,12477932,19710473,19892701,20237496 737633 84929 NM_001145106,NM_032843,AL161733,CH471090,AK027716,AK292489,AY358311,BC032953,BC112892,DC404353 NP_001138578,NP_116232,CAM45758,CAM45759,CAM45760,CAM45761,EAW87950,EAW87951,EAW87952,EAW87953,BAB55319,BAF85178,AAQ88678,AAH32953,AAI12893,Q8N539 Hs.133205 FLJ14810 OTTHUMP00000022379|OTTHUMP00000022381|fibrinogen C domain-containing protein 1 protein-coding 1606090 FIBIN fin bud initiation factor homolog (zebrafish) 11827452,17196583,16303743,12477932,19834535 387758 NM_203371,AC016450,CH471064,CS051379,AA452778,AB236892,AI755024,AK075535,BC026873,BQ882486,CB962364,CR602973,D79377 NP_976249,EAW68292,CAI72184,BAF42654,BAC11678,AAH26873,Q8TAL6 Hs.712718 MGC24932 fin bud initiation factor homolog protein-coding 1353732 FIBP fibroblast growth factor (acidic) intracellular binding protein Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17353931,9806903,17497037,15489334,12477932,12145206,11509569,11104667,9373149,8125298,16169070,19913121,20628086 9158 CR622949,NM_198897,NM_004214,AF250392,AP001201,AP006287,CH471076,DQ388430,AF010187,AF171944,AF171945,AF171946,AF250391,AI925637,AK223438,AK289562,AK293882,AK296571,AK299159,AK309974,AK315976,BC014388,BC017448,CD109589,CR456749,CR590625,CR593925,CR604063,CR604159,CR611951,CR614878,CR619573,CR620055 O43427,Q53F51,ABW03878,ABW03566,NP_942600,NP_004205,AAG01397,EAW74465,EAW74466,EAW74467,ABD48957,AAC97140,AAD51694,AAD51695,AAD51696,AAG01396,BAD97158,BAF82251,BAG57271,BAG59191,BAG61207,BAH14347,AAH14388,AAH17448,CAG33030 Hs.7768 FGFIBP|FIBP-1 FGF-1 intracellular-binding protein|aFGF intracellular-binding protein|acidic fibroblast growth factor intracellular-binding protein protein-coding 1602333 FICD FIC domain containing 19362538,9700202,12975309,12477932 11153 NM_007076,AC010206,CH471054,AF049611,AK000014,AK026074,AY358992,BC001342,BC064629 NP_009007,EAW97813,EAW97814,EAW97815,AAC26847,AAQ89351,AAH01342,Q9BVA6,ABM82713,ABW03426 Hs.661891 HIP13|HYPE|MGC5623|UNQ3041 AMPylator FICD|FIC domain-containing protein|HIP-13|Huntingtin interacting protein E|adenosine monophosphate-protein transferase FICD|fic S-phase protein cell division homolog|huntingtin interacting protein 13|huntingtin interactor protein E|huntingtin yeast partner E|huntingtin-interacting protein 13|huntingtin-interacting protein E protein-coding 1322801 FIG4 FIG4 homolog (S. cerevisiae) The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq] 20630877,17556371,19240061,19118816,18950639,17572665,16344560,15489334,14574404,12477932,11274189,9373149,9039502,8889548,8125298,19037259,19820697,19840946,20472325 9896 BC041338,BM016965,BU683891,CR624197,D87464,DA811740,NG_007977,AL133472,AL512303,CH471051,AA815086,AA946705,AI476769,AK222732,AK291671,AK293422,NM_014845 BAG56929,AAH41338,BAA13403,Q5JRV4,Q5TCS4,Q5TCS5,Q92562,NP_055660,CAI19669,CAI19670,CAI19671,CAI42493,CAI42494,CAI42495,EAW48332,BAD96452,BAF84360 Hs.529959 ALS11|CMT4J|KIAA0274|RP1-249I4.1|SAC3|dJ249I4.1|hSac3 FIG4 homolog, SAC domain containing lipid phosphatase|FIG4 homolog, SAC1 domain containing lipid phosphatase|SAC domain-containing protein 3|Sac domain-containing inositol phosphatase 3|phosphatidylinositol 3,5-bisphosphate 5-phosphatase|polyphosphoinositide phosphatase protein-coding 731830 FIGF c-fos induced growth factor (vascular endothelial growth factor D) The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. [provided by RefSeq] 1334463,2298727,2315478,2315479,2315480,2315475,1580863,704404 20673868,20672317,17222375,18636361,18983460,19226617,19275959,19462898,19629892,19717640,19730683,19744460,20096685,20143921,20179233,20237496,20452482,19821158,20626397,9479493,9684805,19589137,19301310,19265133,19117016,19096126,19074006,18941249,18717190,18609713,18564921,18561194,18512120,18416461,18199540,17970036,17931169,17926187,17917969,17676294,17442484,17242158,17034294,16924525,16816121,16624815,16570043,16467091,16152591,16049374,15803188,15701844,15693535,15623620,15590642,15489334,12963694,12920128,12759540,12714562,12610509,12576440,12477932,10542248,9435229,9373149,9205122,8876195,8125298,20651394 1334463,2298727,2315478,2315479,2315480,2315475 2277 CS367410,FB510795,HC040689,D89630,Y12863,NM_004469,NG_012509,AC095351,CH471074,CQ858318,CS023802,CS037005,CS067232,CS148545,CS172369,CS172815,U69570,Y12864,Y12865,Y12866,Y12867,Y12868,Y12869,Y12870,AJ000185,AK223160,AK313173,BC027948 CAL32762,CAV32972,CBH30537,AAH27948,BAA24264,CAA73370,O43915,Q53FX1,NP_004460,EAW98885,CAH23420,CAI59113,CAI63839,CAI84579,CAJ29849,CAJ32892,CAJ32904,CAA73371,CAA03942,BAD96880,BAG35990 Hs.11392 VEGF-D|VEGFD c-fos-induced growth factor|vascular endothelial growth factor D protein-coding 1602165 FIGLA folliculogenesis specific basic helix-loop-helix 12468641,15044608,18502569,18499083,15489334,12489526,12477932,16143663,17305537,19258411,19610175 344018 NM_001004311,AC007395,CH471053,AY541030,BC039536,NG_013044 NP_001004311,EAW99795,EAW99796,EAW99797,AAS48452,Q6QHK4,AAI46288,AAI48799 Hs.407636 BHLHC8|FIGALPHA|POF6|bHLHc8 class C basic helix-loop-helix protein 8|factor in the germline alpha|folliculogenesis-specific basic helix-loop-helix protein|transcription factor FIGa protein-coding 1317798 FIGN fidgetin 19240061,15815621,14702039,11017077,19680635,19913121,20628086 55137 NM_018086,AC092684,AC093727,AK001267,AK025747,AK125324,BX649105 NP_060556,AAX81992,BAA91590,BAB15231,BAG54182,CAI45980,Q5HY92,AAI48650,AAI56959,ACE87493,ACE86806 Hs.593650 fidgetin protein-coding 1316113 FIGNL1 fidgetin-like 1 19058789,16344560,14702039,12853948,12690205,12477932 63979 NM_001042762,NM_022116,AC018705,CH236955,CH471128,AK023142,AK023411,AK027537,AK308136,AL834387,BC027856,BC051867,DA798223,DA812999,DB067077 NP_001036227,NP_071399,AAS01996,EAL23899,EAW60975,EAW60976,BAB14426,BAB14567,BAG51338,CAD39050,AAH51867,Q6PIW4,ACE86986 Hs.137516 OTTHUMP00000209013|OTTHUMP00000209014|OTTHUMP00000209015|OTTHUMP00000209016|OTTHUMP00000209017|OTTHUMP00000209018|fidgetin-like protein 1 protein-coding 1603328 FIGNL2 fidgetin-like 2 16541075,11017077 401720 NM_001013690,AC068987,AK129980 NP_001013712,BAC85267,A6NMB9,Q6ZP58,AAI56213 putative fidgetin-like protein 2|similar to fidgetin protein-coding 1347231 FILIP1 filamin A interacting protein 1 16381901,15489336,15302935,14702039,14574404,12055638,11230166,11076863,10574462,12477932 27145 BC136444,BX647178,AL356057,AL445465,AL589649,CH471051,AB033101,AB086011,AK001570,AK027705,AK097021,AK290232,AL832009,BC136443,NM_015687 AAI36444,AAI36445,Q05C39,Q7Z7B0,CAL37833,CAL38276,NP_056502,CAH73614,CAH73615,CAH71818,CAH71820,EAW48737,EAW48738,EAW48739,BAA86589,BAC77067,BAA91763,BAB55310,BAC04928,BAF82921,CAD89912 Hs.696158 FILIP|KIAA1275 OTTHUMP00000016756|filamin-A-interacting protein 1 protein-coding 1604834 FILIP1L filamin A interacting protein 1-like 20635389,8314147,19270026,15935955,15342556,14702039,12477932,9373149,8125298,20379614 11259 BC020941,BC027860,BP233250,CR613746,EU531865,EU531866,U53445,NM_001042459,NM_014890,AC024938,AC069222,AC117419,AC129803,AC130887,CH471052,AF329092,AF514867,AF514868,AF514869,AK096195,AK225855,AY642382,BC017987,NM_182909 AAH20941,AAH27860,ACB37436,ACB37437,AAA98972,Q4L180,NP_878913,NP_001035924,NP_055705,EAW79833,EAW79834,AAN16206,AAQ08177,AAQ08178,AAQ08179,AAV34207 Hs.104672 DOC-1|DOC1|GIP90 130 kDa GPBP-interacting protein|90 kDa GPBP-interacting protein|GPBP-interacting protein 90|OTTHUMP00000213949|downregulated in ovarian cancer 1 81 kDa isoform|filamin A-interacting protein 1-like|protein down-regulated in ovarian cancer 1 protein-coding 1342783 FIM1 Friend-murine leukemia virus integration site 1 homolog 1300187 1300187 2278 1351521 FIM3 Friend-murine leukemia virus integration site 3 homolog 1300187 1300187 2279 1319628 FIP1L1 FIP1 like 1 (S. cerevisiae) This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 19118897,18987651,18706197,17591942,17377585,17299092,17261495,17081983,16964243,16690743,16502585,16381901,16189514,15767428,15489336,15489334,15284118,14749727,15302935,14702039,14630792,12842979,12808148,12660384,12477932,11230166,11076863,14729963 81608 NM_001134937,NM_001134938,NG_008644,AC058822,AC098821,CH471057,CQ834882,AF161429,AK090938,AK123992,AK295737,AK300398,NM_030917,AK308145,AL136910,AY366510,BC011543,BC017724,BC024016,BC026724,BC052959,BC110383,CR593836,CR595922,CR606214,CR621336,DN990103 NP_112179,NP_001128409,NP_001128410,EAX05445,EAX05446,EAX05447,EAX05448,EAX05449,CAH05656,AAF28989,BAG58575,BAG62129,CAB66844,AAQ88277,AAH11543,AAH17724,AAH24016,AAH52959,AAI10384,Q6UN15,Q9P071,CAL37636 Hs.624245 DKFZp586K0717|FLJ33619|Rhe|hFip1 FIP1-like 1 protein|OTTHUMP00000218659|factor interacting with PAP|pre-mRNA 3'-end-processing factor FIP1|rearranged in hypereosinophilia protein-coding 1315413 FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM] 1580863 17207965,20877624,20826455,12861026,16118244,16107562,14996942,14561759,18845145,18832378,18782765,18515060,17884824,17545159,17408615,16914522,16883569,16010987,15489334,15356267,15024001,14705031,14623186,12853948,12783892,12477932,10810093,20428767,16874301,18029348,19864424,20179104 51024 NM_016068,AC006329,CH471197,AF151893,AK310968,AK311665,BC003540,BC009428,BI836529,CR591793,CR624091 ADQ32791,NP_057152,AAP22366,EAW50212,EAW50213,EAW50214,AAD34130,AAH03540,AAH09428,Q9Y3D6 Hs.423968 CGI-135|TTC11 FIS1 homolog|H_NH0132A01.6|TPR repeat protein 11|hFis1|mitochondrial fission 1 protein|tetratricopeptide repeat domain 11|tetratricopeptide repeat protein 11 protein-coding 1603355 FITM1 fat storage-inducing transmembrane protein 1 FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM] 18160536,12477932 161247 NM_203402,AL136295,CH471078,BC042179,BC139911,BI114004,BQ574746,BX347190 NP_981947,EAW66107,AAI39912,A5D6W6 Hs.128060 FIT1|MGC46490 fat storage-inducing transmembrane protein 1|fat-inducing protein 1|fat-inducing transcript 1|similar to cg10671-like protein-coding 1317034 FITM2 fat storage-inducing transmembrane protein 2 FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM] 18160536,15489334,12477932,11780052,20877624 128486 NM_001080472,AL117382,CH471077,BC029662,BC130446,BC136640 NP_001073941,CAI23111,EAW75929,AAI30447,AAI36641,Q8N6M3 Hs.632269 C20orf142|Fit2|MGC30135|dJ881L22.2 fat inducing transcript 2|fat storage-inducing transmembrane protein 2|fat-inducing protein 2|fat-inducing transcript 2 protein-coding 1605920 FIZ1 FLT3-interacting zinc finger 1 This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. 12566383,12477932,10409713,17141759,14702039 84922 NM_032836,AC008735,CH471135,AA864884,AK027674,AK160385,BC020368,BC132777,BC136512,CR596546 NP_116225,EAW72391,EAW72392,BAB55286,BAD18728,AAI32778,AAI36513,Q96SL8 Hs.515617 FLJ00416|FLJ14768|ZNF798 flt3-interacting zinc finger protein 1|zinc finger protein 798 protein-coding 1314537 FJX1 four jointed box 1 (Drosophila) The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq] 1580863 12477932,10568747,10072791,7647465 24147 NM_014344,AL135934,CH471064,L37769,AJ245599,AK026069,AK098459,AK315015,BC049171,BC071898,BF509837 NP_055159,EAW68138,CAB53246,BAG37506,AAH49171,AAH71898,Q86VR8 Hs.39384 FLJ22416|FLJ25593 four-jointed box protein 1|four-jointed protein homolog|putative secreted ligand homologous to fjx1 protein-coding 1319279 FKBP10 FK506 binding protein 10, 65 kDa The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase family. It is located in endoplasmic reticulum and acts as molecular chaperones. An alternatively spliced variant encoding different isoform has been found, but the biological validity of the variant is not determined. [provided by RefSeq] 1580863 18786928,16396496,16303743,15489334,14702039,12754519,12477932,12036304,11071917,16333983,19596235,20362275 60681 NM_021939,AC091172,CH471152,AB045981,AF337909,AI095261,AK000690,AK025694,AK025874,AK074413,AK092042,AK092708,AK172811,AK296107,AL365371,AL832985,BC016467,BX537452,CR590563,CR606502,CR621305,NG_015860 NP_068758,EAW60767,EAW60768,EAW60769,EAW60770,BAB20974,AAM15770,BAB15220,BAB15266,BAC03954,BAD18781,BAG58857,CAH56332,AAH16467,CAD97695,Q658U4,Q6ZME7,Q8NAG5,Q96AY3,Q9H6J3,ABM85920,ACE87387,ACE86703 Hs.463035 FKBP6|FKBP65|FLJ20683|FLJ22041|FLJ23833|OI6|PPIASE|hFKBP65 65 kDa FK506-binding protein|65 kDa FKBP|FK506-binding protein 10|FKBP-10|FKBP-65|PPIase FKBP10|immunophilin FKBP65|peptidyl-prolyl cis-trans isomerase FKBP10|rotamase protein-coding 1314619 FKBP11 FK506 binding protein 11, 19 kDa FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM] 1580863 16596453,16344560,15489334,12477932,12036304 51303 NM_001143781,NM_001143782,AC073610,CH471111,AF238079,AK301455,AY358998,BC027973,BC048292,BE857354,NM_016594,DA378205 NP_057678,NP_001137253,NP_001137254,EAW58022,EAW58023,AAF63478,BAG62979,AAQ89357,AAH27973,AAH48292,Q86SR8,Q9NYL4,ABM82983,ABM86177 Hs.655103 FKBP19|MGC54182 19 kDa FK506-binding protein|19 kDa FKBP|FK506-binding protein 11|FKBP-11|FKBP-19|PPIase FKBP11|peptidyl-prolyl cis-trans isomerase FKBP11|rotamase protein-coding 1323300 FKBP14 FK506 binding protein 14, 22 kDa 1580863 15489334,15340161,14702039,12975309,12690205,12477932,12036304,19862764 55033 NM_017946,AACC02000087,AC007285,CH471073,AK000738,AK309552,AY358643,BC005206 NP_060416,EAL24457,EAW93929,BAA91351,AAQ89006,AAH05206,Q9NWM8,ABM83451,ABM86663 Hs.571333 FKBP22|FLJ20731 22 kDa FK506-binding protein|22 kDa FKBP|FK506-binding protein 14|FKBP-14|FKBP-22|PPIase FKBP14|peptidyl-prolyl cis-trans isomerase FKBP14|rotamase protein-coding 1312480 FKBP15 FK506 binding protein 15, 133kDa 16756961,16344560,12477932,9734811,19121306,18029348,20376207 23307 NM_015258,AL449105,AL449305,AB014574,AK301208,AK303074,AK307498,AK307507,BC009609,BC026048,BC077732,BQ646813,DA238568,DC321217 NP_056073,CAI95402,CAI10963,CAI10964,BAA31649,BAG62784,BAG64190,AAH09609,AAH77732,Q5T1M5,AAI66677 Hs.522351 FKBP133|KIAA0674 133 kDa FK506-binding protein|133 kDa FKBP|FK506-binding protein 133kDa|FK506-binding protein 15|FKBP-133|FKBP-15|OTTHUMP00000021948|WAFL|WASP and FKBP-like protein-coding 737539 FKBP1A FK506 binding protein 1A, 12kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq] 2298922,2302074,1580388,704404 19913121,20628086,1709301,1695378,1375171,1281998,12181673,9546659,11960000,9663660,14679009,9334222,7791754,16278292,15796538,15467718,15284440,15268862,7822316,15514157,15761148,15734648,21047202,15146197,8889548,7592869,17962721,16720724,11322937,12761501,7518616,1696686,18346205,2477715,1701173,1374404,18413763,18029417,17872463,17397867,16908189,16410343,16122887,16036432,15992823,15489334,15199065,14970260,12850152,12812497,12704193,12665801,12604780,12600203,12477932,11438723,11279144,11245643,11237759,11171121,11164950,10852943,10656803,10515881,9871618,9461216,9346894,8955134,8662507,8521476,7821789,7682113,7678431,7543369,7541044,7541038,7529739,11780052,11598113,1930186,1716149,1713687,1709363,12417722,11827452,1709302,10089303,19414059,8524402,9880681 2298922,2302074,1580388 2280 BU540706,CA450516,CN426120,NM_001199786,NM_000801,NM_054014,AB190794,AL109658,AL136531,CH471133,CS081479,M80199,M80204,M92423,M93060,X55741,AA731598,AB241123,AB241125,AF205192,AI753994,BC001925,BC005147,BC119732,BC119733,BT007066,CR407613,CR542168,CR590078,CR591667,CR592860,CR593538,CR595798,CR596571,CR597073,CR598590,CR599015,CR599932,CR600891,CR600975,CR602019,CR602858,CR603630,CR609261,CR609321,CR610147,CR610528,CR612762,CR615284,CR617035,CR617939,CR618348,CR619636,CX870892,D28444,M34539,X52220,AB241124 NP_001186715,NP_000792,NP_463460,BAE44301,CAI22727,CAI22728,CAH72381,CAH72382,EAX10633,EAX10634,EAX10635,CAI95951,AAA58472,AAA58476,CAA39272,BAE94235,BAE94237,AAF17608,AAH01925,AAH05147,AAI19733,AAI19734,AAP35729,CAG28541,CAG46965,BAA05810,AAA35844,CAA36462,P62942,Q0VDC5,Q0VDC6,Q1JUQ3,Q1JUQ5,Q3V793,Q5W0X3,Q9UH88,ABM82745,BAE94236,Q1JUQ4 Hs.700839,Hs.471933 FKBP-12|FKBP1|FKBP12|FKBP12C|PKC12|PKCI2|PPIASE 12 kDa FK506-binding protein|12 kDa FKBP|FK506 binding protein12|FK506-binding protein 1|FK506-binding protein 12|FK506-binding protein 1A (12kD)|FK506-binding protein, T-cell, 12-kD|FKBP-1A|FKBP12-Exip3|OTTHUMP00000029980|PPIase FKBP1A|fk506-binding protein 1a|immunophilin FKBP12|peptidyl-prolyl cis-trans isomerase FKBP1A|protein kinase C inhibitor 2|rotamase protein-coding 735951 FKBP1B FK506 binding protein 1B, 12.6 kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq] 2302075,2302065,2302077,2302073,1580387,704404 17506935,17313373,17200109,16122887,15972811,15749201,15591045,15497458,15489334,14616768,12754204,12477932,12459180,12446682,12443530,11237759,10713512,9013543,7513996,15351706,20404344,7592869,10830164,17921453,11322937,19226252,20431056,19197348 2302075,2302065,2302077,2302073,1580387 2281 HB868428,HC925837,NM_054033,NM_004116,AB190793,AC008073,CH471053,AF322070,BC002614,BC050998,BF969580,CR614690,CR616275,CR626535,D38037,L37086,S69800,S69815 CBF58189,CBU83624,NP_473374,NP_004107,BAE44300,AAY14663,EAX00768,EAX00769,EAX00770,AAK11191,AAH02614,BAA07232,AAC37581,AAB30685,AAB30684,P68106 Hs.709461 FKBP12.6|FKBP1L|OTK4|PKBP1L|PPIase 12.6 kDa FK506-binding protein|12.6 kDa FKBP|FK506-binding protein 1-like|FK506-binding protein 12.6|FK506-binding protein 1B|FKBP-12.6|FKBP-1B|PPIase FKBP1B|calstabin 2|fk506 binding protein 1b|h-FKBP-12|immunophilin FKBP12.6|peptidyl-prolyl cis-trans isomerase FKBP1B|rotamase protein-coding 2301268 FKBP1C FK506 binding protein 1C 642489 NG_008622,AL450346 CAH71018,Q5VVH2 bA184C23.2 pseudo 1351709 FKBP1P1 FK506 binding protein 1 pseudogene 1 1716149 2282 NR_024162,AC010522,AC010645,M80196,M80201,AI076645 Hs.720356 FKBP12|FKBP1P1 pseudo 1343039 FKBP1P2 FK506 binding protein 1 pseudogene 2 1716149 2283 NG_008623,AC129980,M80197,M80202 FKBP12|FKBP1P2 pseudo 1351220 FKBP1P3 FK506 binding protein 1 pseudogene 3 1716149 2284 AL138686,NG_006209,M80200 FKBP12|FKBP1P3 pseudo 1346929 FKBP1P4 FK506 binding protein 1 pseudogene 4 19913121,20628086,1716149 2285 M80198,M80203,NG_006255,AC108751 FKBP12|FKBP1P4 pseudo 1349147 FKBP2 FK506 binding protein 2, 13kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 1713687,16713569,15489334,12606707,12477932,9531554,8889548,8373365,7526846,7505249,1281998,16169070,19913121,20628086,15353007 2286 NM_004470,NM_001135208,NM_057092,AP001453,CH471076,L18980,AW450265,BC003384,BC091475,BT009861,BU682774,CR407636,M65128,M75099,HB868426,HC925835 NP_004461,NP_001128680,NP_476433,EAW74224,EAW74225,AAH03384,AAH91475,AAP88863,CAG28564,AAA58473,AAA36563,P26885,Q53XJ5,ABM85057,CBF58188,CBU83623 Hs.227729 FKBP-13|PPIase 13 kDa FK506-binding protein|13 kDa FKBP|FK506-binding protein 2 (13kD)|FKBP-2|PPIase FKBP2|immunophilin FKBP13|peptidyl-prolyl cis-trans isomerase FKBP2|proline isomerase|rapamycin-binding protein|rotamase protein-coding 1312751 FKBP3 FK506 binding protein 3, 25kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq] 1580863 19913121,20628086,1374240,18029348,19166840,15489334,15146197,12477932,12392168,11532945,9373149,8125298,8012384,7689229,1532945,1376117,1375932,12920132 2287 NM_002013,AL121809,CH471078,Z58738,AK222993,AK311915,BC016288,BC020809,BI598048,BT006904,CN315192,CR590899,CR599673,CR610696,CR613618,CR623899,M96256 NP_002004,EAW65785,BAD96713,BAG34856,AAH16288,AAH20809,AAP35550,AAA58471,Q00688,Q53GD8,ABM81660,ABM82058,ABM84832,ABM85237 Hs.509226 FKBP-25|PPIase 25 kDa FK506-binding protein|25 kDa FKBP|FK506-binding protein 25, T-cell|FK506-binding protein 3 (25kD)|FKBP-3|OTTHUMP00000178918|PPIase FKBP3|immunophilin FKBP25|peptidyl-prolyl cis-trans isomerase FKBP3|rapamycin binding protein|rapamycin-selective 25 kDa immunophilin|rotamase protein-coding 733402 FKBP4 FK506 binding protein 4, 59kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq] 1580863,4892102 20442138,12604780,19197348,19545546,19584157,19945390,20133804,20376328,1376003,9660753,2378870,1279700,18029348,19254810,19199039,18988805,18162540,17717070,17343741,16964243,16916647,16873445,16352746,16344560,16341674,15831525,15761153,15591061,15509512,15489334,15159550,15133031,12782134,12606580,12603528,12477932,11751894,11583998,11533160,11322937,11278753,11164950,10714679,10051602,9501323,9405642,9392437,8955134,8889548,8341706,1383226,1371107,9222609,17353931,20029029,20562859 4892102 2288 NM_002014,AC005841,CH471116,AK024694,AK313918,BC001786,BC002887,BC007924,BQ083177,BQ446607,BU685040,CR591979,CR598174,CR602781,CR611172,CR616201,DA392592,M88279 NP_002005,EAW88889,EAW88890,BAG36639,AAH01786,AAH07924,AAA36111,Q02790,ABM84594,ABM86726 Hs.524183,Hs.713721 FKBP51|FKBP52|FKBP59|HBI|Hsp56|PPIase|p52 51 kDa FK506-binding protein|FK506-binding protein 4 (59kD)|HSP binding immunophilin|T-cell FK506-binding protein, 59kD|fk506 binding protein 4 (59 kda)|peptidyl-prolyl cis-trans isomerase FKBP4|peptidylprolyl cis-trans isomerase|rotamase protein-coding 1319338 FKBP5 FK506 binding protein 5 The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq] 1580863 20562859,9001212,9660753,19365399,19282465,19254810,19233472,19199039,19195790,19095219,18702710,18654788,18597649,18443959,18349090,18320068,18291582,18191112,17960574,17721930,17081296,16421106,16381901,16344560,16210365,16088328,15591061,15565110,15489336,15489334,15302935,15089760,14743216,12746298,12538866,12477932,12351405,11751894,11350175,11322937,11230166,18180755,20849924,21041608,9373149,9125197,8603045,8125298,7693698,7688746,7542743,9222609,20661446,20709156,20726698,11076863,21036922,17643375,19545546,19560279,19615732,19676097,19696786,19732725,19750552,19924111,20008943,20023700,20047716,20048054,20071522,20090668,20093418,20226536,20346245,20376328,20379614,20393453,20398908,20547006 2289 NM_001145775,NM_004117,NM_001145776,NM_001145777,NG_012645,AL033519,AL157823,AL590400,CH471081,AB209893,AF194172,AK222807,AK302704,AK303356,AK312422,AL122066,AW182642,BC042605,BC111050,BX647390,CR620368,DB066174,U42031,U71321,X97300,HM245391 CAL38619,Q5TGM6,NP_001139247,NP_004108,NP_001139248,NP_001139249,CAI20256,EAX03841,EAX03842,BAD93130,AAL54872,BAD96527,BAH13784,BAH13948,BAG35332,AAH42605,AAI11051,AAA86245,AAC51189,Q13451,Q2TA84,Q53GX4,Q59EB8 Hs.407190 AIG6|FKBP51|FKBP54|MGC111006|P54|PPIase|Ptg-10 51 kDa FK506-binding protein 5|51 kDa FKBP|54 kDa progesterone receptor-associated immunophilin|FF1 antigen|FKBP-5|FKBP-51|HSP90-binding immunophilin|OTTHUMP00000016268|PPIase FKBP5|T-cell FK506-binding protein|androgen-regulated protein 6|peptidyl-prolyl cis-trans isomerase FKBP5|peptidylprolyl cis-trans isomerase|rotamase protein-coding 1318976 FKBP6 FK506 binding protein 6, 36kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein may have cis-trans prolyl isomerase activity, and binds to clathrin heavy chain and heat shock protein 72. This gene is found to be deleted in Williams syndrome, and the orthologous gene in mouse is essential for fertility and homologous pairing in male meiosis. [provided by RefSeq] 1580863,1582483 9782077,19001379,18529014,17307919,16983454,16344560,16227348,16189514,15696470,15489334,12477932,11322937,10631136,20378615 1582483 8468 HC006956,NM_001135211,NM_003602,AC005049,AC073841,CH471200,AA909474,AF038847,AK302121,AK310255,BC036817,BI461016,DB033483,DB525126,NG_023242 CBH19283,NP_001128683,NP_003593,EAW69685,EAW69686,AAC64249,BAG63499,AAH36817,O75344,ABW03684,ABW03338,ACT64473,ACT64474 Hs.661266 FKBP36|MGC87179|PPIase 36 kDa FK506-binding protein|36 kDa FKBP|FK506-binding protein 6|FK506-binding protein 6 (36kD)|FKBP-36|FKBP-6|OTTHUMP00000210651|PPIase FKBP6|immunophilin FKBP36|peptidyl-prolyl cis-trans isomerase FKBP6|peptidylprolyl cis-trans isomerase|rotamase protein-coding 1313236 FKBP7 FK506 binding protein 7 The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq] 1580863 16344560,15489334,12975309,12477932,12036304,9806833,11162551,18029348 51661 NM_181342,NM_001135212,AC009948,CH471058,AA447628,AF092137,AF100751,AK292145,AK299215,AY353086,AY359015,BC009711,BF210667,BQ003190,BT007122,DA020387 NP_851939,NP_001128684,AAX88883,EAX11027,EAX11028,EAX11029,EAX11030,EAX11031,EAX11032,AAD40379,AAD43015,BAF84834,BAG61254,AAQ57208,AAQ89374,AAH09711,AAP35786,Q4ZG70,Q6V3B2,Q9Y680,ACE87327,ACE86645 Hs.410378 FKBP23|MGC9420|PPIase 23 kDa FK506-binding protein|23 kDa FKBP|FK506-binding protein 23|FK506-binding protein 7|FKBP-23|FKBP-7|PPIase FKBP7|peptidyl-prolyl cis-trans isomerase FKBP7|rotamase protein-coding 1318578 FKBP8 FK506 binding protein 8, 38kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq] 1580863 16169070,18385096,19546213,19615732,20048149,20139069,15733859,15592455,15489336,15489334,15105374,15057824,12894220,12510191,12477932,11230166,11076863,8889548,7543869,20029029,10197430,19222999,18676370,18658153,18216108,17991864,17942410,17573772,17569659,17353276,17090549,17024179,16844119,16604427,16381901,16341674,16176796,15990872,15757646,20877624 23770 GQ372970,AC005387,CH471106,AK026952,AK300571,AK313363,AL042208,AL555689,AY225339,AY278607,BC009966,BM719161,BM790404,BQ953871,BX538124,BX647405,BX647720,CR590272,CR592361,CR593842,CR597754,CR598306,CR598878,CR604123,CR610429,CR611836,CR615174,NM_012181,CR621530,CR622437,CR623071,CR625427,CR625801,CR626588,L37033,CR616183 ACU65096,NP_036313,AAC28753,EAW84709,EAW84710,EAW84711,BAH13306,BAG36163,AAO39020,AAQ84561,AAH09966,CAD98028,AAB00102,Q14318,CAL37783,ABM84011,ABM87352 Hs.173464 FKBP38|FKBPr38 38 kDa FK506-binding protein|38 kDa FKBP|FK506-binding protein 8 (38kD)|FKBP-38|FKBP-8|PPIase FKBP8|hFKBP38|peptidyl-prolyl cis-trans isomerase FKBP8|rotamase protein-coding 1354428 FKBP9 FK506 binding protein 9, 63 kDa 1580863 16303743,15489334,12754519,12690205,12477932,12036304,10524204 11328 BC072422,BC099918,BC101723,BC112053,BC127737,BC150541,BC150542,CA427028,CR615769,CR623093,DC317549,NM_007270,AACC02000103,AC083863,AB209352,AF089745,AK075331,AK128597,AK293440,AK293954,AK294266,AK300328,AK304643,AK316290,AL050187,BC007443,BC064418 AAH64418,AAH72422,AAH99918,AAI01724,AAI12054,O95302,Q59FV7,NP_009201,EAL24461,EAL24462,BAD92589,AAC78853,BAG52112,BAG54697,BAH11505,BAH11634,BAH11716,BAH13259,BAH14230,BAH14661,AAH07443 Hs.103934 DKFZp586B1723|FKBP60|FKBP63|MGC126772|MGC138258|PPIase 63 kDa FK506-binding protein|63 kDa FKBP|FK506-binding protein 9|FKBP-63|FKBP-9|PPIase FKBP9|peptidyl-prolyl cis-trans isomerase FKBP9|rotamase protein-coding 1350622 FKBP9L FK506 binding protein 9-like 737633 12477932,9847074 737633 360132 AK289438,AK312981,BC011872,BM014562,BM041005,NR_003949,NR_027339,NR_027340,NR_027342,AC091812 AAQ93369,BAF82127,BAG35818 Hs.446691 MGC20531 pseudo 1353952 FKBPL FK506 binding protein like The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq] 1580863 16169070,10521921,18669603,15664193,12477932,10866283,9056895,19851445,20103631,20210997 63943 NM_022110,AF139374,AL662828,AL662884,CH471081,CR925796,U89337,AK027119,AK291418,BC004168,BC011966,CR457374,CR753803 NP_071393,AAF67785,CAI17420,CAI18338,EAX03586,EAX03587,CAQ10265,AAF04864,BAB15663,BAF84107,AAH04168,AAH11966,CAG33655,Q9UIM3,ABM82682,ABM85864,CAQ09554 Hs.520042 DIR1|NG7|WISP39 FK506-binding protein like|FK506-binding protein-like|WAF-1/CIP1 stabilizing protein 39 protein-coding 1314133 FKRP fukutin related protein This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1358626,1598944,1580863 14652796,14523375,12707439,12666124,12654965,12477932,11801394,11741828,11592034,11071142,11053680,10198165,8889548,14702039,19299310,18671187,18645206,18593008,18060779,17952692,17446099,17351538,17336067,17113772,17055682,16344560,16344347,16055117,15883334,15833432,15580560,15574464,15489334,15213246,15121789,19820980,19900540,19917824,19955119 1358626,1598944 79147 NM_001039885,NM_024301,NG_008898,AC008622,CH471126,AJ314847,AK022638,AK095497,AK291282,AW504292,BC002612,BM979509,CX866271,DA123579,DB090073,DN999716 NP_001034974,NP_077277,EAW57444,EAW57445,CAC85633,BAB14146,BAG53071,BAF83971,AAH02612,Q9H9S5,ABM84531,ABM86053 Hs.515493 FLJ12576|LGMD2I|MDC1C|MDDGA5|MDDGB5|MDDGC5|MGC2991 fukutin-related protein protein-coding 1602215 FKSG2 apoptosis inhibitor 59347 NG_012761,AC138136,AF300871 AAG17927,Q9HAU6 pseudo 1605020 FKSG43 FKSG43 gene 12477932 83957 AL050306,AF334945,BC128150,NR_033742 AAG50294 Hs.652967 MGC149236 pseudo 1605023 FKSG83 FKSG83 12477932 83954 NM_032030,AL021808,CH471081,AF336874,AF352327,BC107050 NP_114419,EAX03091,EAX03092,AAK21300,AAK32715,AAI07051,Q3KNW7,Q7LBC9,Q9BX81 Hs.326753 MGC129573 FKSG83 protein-coding 1320791 FKTN fukutin The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1598929,1580863 9690476,19396839,19342235,19299310,19266496,19179078,19015585,18834683,18752264,18177472,17878207,17319799,17044012,17036286,17005282,16344560,15489334,15213246,15164053,15103718,14627679,12601708,12477932,12471058,12172906,11445638,11165248,11115853,10817652,10734260,10545611,10067123,9119396,8275093,20620061,19448620 1598929 2218 NM_001079802,NM_006731,NG_008754,AB038490,AL158070,CH471105,AB008226,AK300840,AK304460,AL601876,BC058842,BC101808,BC112038,BC117699,BC117700,DA917113,AW014603,NM_001198963 NP_001073270,NP_006722,BAA94082,CAC22162,CAI39800,EAW59001,BAA32000,BAG62491,BAG65276,AAI01809,AAI12039,AAI17700,O75072,NP_001185892,AAI17701 Hs.55777 CMD1X|FCMD|LGMD2M|MDDGA4|MDDGB4|MDDGC4|MGC126857|MGC134944|MGC134945|MGC138243 Fukuyama type congenital muscular dystrophy protein|fukutin|fukuyama-type congenital muscular dystrophy protein protein-coding 1604288 FLAD1 FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 16643857,19240958,16189514,14702039,12477932,9110174,8619474,20864672 80308 CR606793,CR617327,CR622894,CR623743,CR625722,DQ458779,U79241,NM_201398,AL451085,CH471121,AF218022,AF481877,AF520568,AK025979,AK090542,AK308243,BC011378,BC014012,BC020253,BC021096,BC032323,BI919061,CR591714,CR596936,CR599772,CR602509,NM_025207,DC371856,NM_001184891,NM_001184892 ABE65383,AAB50199,Q5T190,Q5T191,Q5T196,Q8NFF5,ABM81905,ABM85078,NP_079483,NP_958800,CAI13258,CAI13259,CAI13260,CAI13261,CAI13262,CAI13263,CAI13264,EAW53153,EAW53154,EAW53155,EAW53156,EAW53157,EAW53158,EAW53159,AAG17264,AAO49318,AAM77338,BAG52181,AAH11378,AAH14012,AAH20253,AAH21096,AAH32323,NP_001171820,NP_001171821 Hs.118666 FAD1|FADS|MGC31803|MGC40255|PP591|RP11-307C12.7 FAD pyrophosphorylase|FAD synthase|FAD synthetase|FAD-synthetase|FMN adenylyltransferase|Fad1, flavin adenine dinucleotide synthetase, homolog|OTTHUMP00000035549|flavin adenine dinucleotide synthase|flavin adenine dinucleotide synthetase protein-coding 1604509 FLCN folliculin This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 18029348,18403135,19327534,19234517,19116017,18709329,18579543,18573707,18505456,18234728,18206534,17496196,17149965,16870330,16636660,16344560,15956655,15852235,15657874,15579035,15489334,14961590,14702039,14627671,12843323,12746401,12477932,12471204,12204536,11533913,11526515,20413710,20522427,17028174,12907635,21079084,20562859,17207965,19483054,20227563 201163 NM_144997,NM_144606,NG_008001,AC055811,CH471196,AF517523,AK126951,AK127912,AK309336,AL831885,BC015687,BC015725,BQ423946,CX759825,DA461022,DA944035,CS478258 NP_659434,NP_653207,EAW55715,EAW55716,AAM94803,BAC86760,BAC87186,CAD38565,AAH15687,AAH15725,Q8NFG4,ADQ31685,CAM35387 Hs.31652 BHD|DKFZp547A118|FLCL|FLJ45004|FLJ99377|MGC17998|MGC23445 BHD skin lesion fibrofolliculoma protein|OTTHUMP00000065507|birt-Hogg-Dube syndrome protein|folliculin protein-coding 737239 FLG filaggrin Profilaggrin is a major protein component of the keratohyalin granules of mammalian epidermis. It is initially expressed as a large polyprotein precursor which is subsequently proteolytically processed into individual functional filaggrin molecules. The filaggrins show wide species variations and their aberrant expression has been implicated in a number of keratinizing disorders (Baden et al., 1974 [PubMed 4132224]; Holbrook et al., 1982 [PubMed 6174530]; Sybert et al., 1985 [PubMed 2579164]).[supplied by OMIM] 1598947,1580863 19601982,20222934,20814636,20800603,20865458,20975288,21039602,21074596,19958351,2740331,17704059,12850301,19602001,19589816,19538357,19538184,19515043,19501237,19492053,19408338,19348926,19247692,19239468,19183181,19134432,19037238,18987673,18976374,18843291,18818676,18774391,18769192,18760831,18637008,18620134,18578563,18565177,18521703,18420385,18396323,18385759,18384254,18325573,18313126,18307574,18305568,18239616,18200065,18193244,18176743,18172455,18094728,18073125,18068483,18049447,18032906,18007582,18005116,17989887,17980411,17970802,17704064,17684752,17657246,17581619,17531295,17502856,17417636,17410197,17380114,17301831,17291859,17255953,17195011,17096018,17008875,16990802,16815158,16810297,16710414,16570058,16550169,16444271,16261374,15675958,12838398,12230510,11380615,11279517,9886436,8780679,8417356,4132224,2579164,2248957,2043621,1429717,8270625,6174530,20445547,20573035,20621340,20629673,20686498,19550302,19601998,19615732,19663875,19681860,19720210,19733298,19785597,19804695,19839980,19863505,19874431,20016199,20028371,20109745,20149601,20159264,20179351,20208004,20230798,20346018,20426775,20513523,20132155,20943104 1598947 2312 CS673440,CS690823,FB665576,GM706788,NM_002016,AF043380,AL356504,CH471121,L01089,M60494,M96943,AB208881,L01090,M24355,M60495,M60499,M60500,M60502,NG_016190 CAP07487,CAP11455,CAR97069,CAT82291,Q03838,Q03839,Q05331,Q15206,Q16824,Q4JFL9,Q59H78,NP_002007,AAC23559,CAI19595,EAW53383,EAW53384,EAW53385,AAA60177,AAA63244,AAA36487,BAD92118,AAA60176,AAA52454,AAA63245,AAA63246,AAA63247,AAA63248,O75370,P20930,Q03837,ACX32320 Hs.654510 ATOD2 epidermal filaggrin|filaggrin protein-coding 1603471 FLG2 filaggrin family member 2 19384417,12477932,19601998 388698 NM_001014342,AL356504,DQ118293,AY827490,BC029685,BC063543,BC108269,BX095286 NP_001014364,CAC13173,AAZ99029,AAX12417,Q5D862 Hs.156124 IFPS FLG-2|filaggrin 2|filaggrin-2|ifapsoriasin|intermediate filament-associated and psoriasis susceptibility protein|intermediate filament-associated and psoriasis-susceptibility protein protein-coding 1320394 FLI1 Friend leukemia virus integration 1 1582490,1580863 20676125,20228226,20211142,20933505,9681824,9010223,9651344,8679708,8604338,8439553,8246959,7773776,7542907,1845910,1765382,1522903,1445800,1394211,11313879,15735734,16990252,10891501,19417137,19158279,18785112,18648544,18414662,18174230,17884818,17727680,17163154,16964281,16930139,16829517,16802366,16148010,15919668,15809330,15798196,15489334,15282325,15273724,15232614,15231748,15021903,14534527,12875977,12743594,12739001,12724402,12556498,12477932,12359731,11118632,10949935,10827180,10606656,9751743,19349856,19859563,20019092,20103643,20308669,20308673,20379614,20382729,9764825 1582490 2313 NM_002017,AB012624,AB012625,AF275879,AP001122,CH471065,D38408,Y17293,AF147318,AI354789,AK294279,AK300153,AK313370,AY029368,BC001670,BC010115,BX647094,CR600005,DC381599,M93255,M98833,S45205,X67001,NM_001167681 NP_002008,EAW67716,BAA32805,BAA32806,AAA76854,AAG33027,EAW67715,EAW67717,EAW67718,EAW67719,EAW67720,BAA07463,CAA76731,BAG57565,BAG61938,BAG36169,AAK50443,AAH01670,AAH10115,AAA58479,AAA58480,AAA35812,AAB23637,CAA47399,Q01543,Q9UEE2,Q9UEE3,ABM83508,ABM87857,NP_001161153 Hs.504281 EWSR2|SIC-1 Friend leukemia integration 1 transcription factor|proto-oncogene Fli-1|transcription factor ERGB protein-coding 1316872 FLII flightless I homolog (Drosophila) This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 9177775,10366446,18029348,19293151,19265123,18588881,17526423,17114343,17081983,16964243,16424162,15489334,15302935,14966289,12665801,12477932,11997338,11971982,11171324,9671805,9525888,8248259,7825574,16169070,19913121,20628086,19720835,19829305,20223827 2314 NG_023243,NM_002018,AC127537,CH471196,U80184,AB208864,AK295655,AK295814,AK297836,AK310400,BC001582,BC017030,BC021885,BC025300,U01184 NP_002009,EAW55653,EAW55654,EAW55655,EAW55656,AAC02796,BAD92101,BAG58522,BAG58632,BAG60170,AAH25300,AAC03568,Q13045,Q59H95,ABM84547,ABM87849 Hs.513984 FLI|FLIL|Fli1|MGC39265 protein flightless-1 homolog protein-coding 1602876 FLJ10213 hypothetical protein FLJ10213 17353931,14702039,12477932,20054395 55096 NM_018029,AC103559,AK001075,AY036895,BC051316,BC064501 NP_060499,BAA91494,AAK83528,AAH51316,AAH64501,Q6P2I7 Hs.658858 EBLN-2|FLJ10213 EBLN-1|endogenous Borna-like N element-1|endogenous Borna-like N element-2 protein-coding 1603998 FLJ10357 hypothetical protein FLJ10357 16143467,14702039,12693554,12477932,16169070 55701 NM_018071,AL161668,CH471078,AK001219,AK024463,AK074057,AK126755,AL137291,BC000084,BC009992,BC142692,BC144317,BC151212,BF339938,BQ447317,BX248768,CR618390,T97121 NP_060541,EAW66410,EAW66411,EAW66412,EAW66413,EAW66414,EAW66415,EAW66416,BAA91563,BAB15753,BAB84883,CAB70682,AAH00084,AAI42693,CAD66575,Q86TR4,Q8TER5 Hs.35125 FLJ10357|SOLO protein SOLO|rho guanine nucleotide exchange factor 40 protein-coding 1601757 FLJ10404 hypothetical protein FLJ10404 16713569,16189514,14702039,12477932,11572484,10737800,15146197,16344560,21177767 54540 NR_024019,AC139795,AC145098,CH471195,CS185605,AB067518,AI683595,AK001266,AK096032,AL833096,BC008784,BC071696,BC086859,BF768924,BX647587,AI039634,BX431446,BX440663,CN372828,DA077186,NM_001190946 EAW84969,EAW84970,EAW84971,EAW84972,EAW84973,EAW84974,EAW84975,EAW84976,CAJ42786,BAB67824,BAA91589,BAG53200,AAH08784,AAH71696,CAI46078,Q6IPW0,Q96PV7,NP_001177875 Hs.484289 DKFZp313I142|FLJ10404|IRIZIO|KIAA1931 OTTHUMP00000223797|family with sequence similarity 193, member B|hypothetical protein LOC54540 protein-coding 1605337 FLJ11783 hypothetical protein FLJ11783 14702039 79951 NM_024891,AP001267,CH471065,AK021845 NP_079167,EAW67385,BAB13909,Q9HAE0 Hs.664477 protein-coding 1606505 FLJ12684 hypothetical protein FLJ12684 14702039,12477932 79584 Q0P5R3,Q6NWN0,Q6NWN2,Q9H9K5 NM_024534,AC104066,CH471057,AK022746,AK095318,AY189288,BC067526,BC067527,BC067528,BC067529,BC069998,BP871936 NP_078810,EAX05439,BAB14220,AAO86732,AAH67526,AAH67528,AAH67529,AAH69998,Q0P5R3,Q6NWN0,Q6NWN2,Q9H9K5 Hs.363087 protein-coding 2303476 FLJ13197 hypothetical FLJ13197 14702039 79667 NR_026804,AC021860,CH471069,AF289565,AK023259 EAW92893,EAW92894,AAL55749,BAB14493,Q8WZ27,Q9H8V8 Hs.29725 miscrna 2307244 FLJ14107 hypothetical LOC80094 14702039,12477932 80094 NR_027715,AC037459,CH471080,AK024169,BC013100,DN996902 EAW63657,BAB14845,AAH13100,Q9H7X8 Hs.675917,Hs.722183 miscrna 1603216 FLJ20184 hypothetical protein FLJ20184 18519826,12477932,19911011,20010835,20332099,20379614 54848 NM_017700,AC004066,AC105391,CH471057,AK000191,BC105695 NP_060170,EAX06185,EAX06186,EAX06187,BAA90998,AAI05696,Q9NXL2 Hs.675420 FLJ20184 rho guanine nucleotide exchange factor 38 protein-coding 1607013 FLJ20209 hypothetical LOC57245 12477932 57245 XM_933464,XM_944968,AC098649,AK000216,AK127837,AL832057,BC101284,BC101285,BC101286,BC101287,BC113070 XP_938557,XP_950061,Q6ZRZ9 Hs.61430 miscrna 1606066 FLJ20444 hypothetical protein FLJ20444 403323 XM_933028,AL512625,CR769767,AK000451,AK290223 XP_938121,BAF82912 Hs.536967 protein-coding 1607028 FLJ20674 hypothetical protein FLJ20674 16344560,14702039,12477932 54621 NM_019086,AC026366,AC131238,CH471054,AK000681,AK094977,BC028698,BC034471,CR621447,DA995625,DB174919,BC001437 NP_061959,EAW98119,EAW98120,EAW98121,BAA91322,AAH28698,AAH34471,Q8N0Z9 Hs.187624 FLJ20674|MGC1013 V-set and immunoglobulin domain-containing protein 10 protein-coding 1602204 FLJ21511 hypothetical protein FLJ21511 16344560,12477932,17714445,17761529 80157 NM_025087,AC020593,CH471069,AI377551,AK025164,BC137387,BC137388,DA426878,AK300495,AK316307 NP_079363,EAW93078,BAB15080,AAI37388,AAI37389,Q9H720,BAG62209,BAH14678 Hs.479703 CWH43-C|FLJ21511 OTTHUMP00000220631|PGAP2-interacting protein|cell wall biogenesis protein 43 C-terminal homolog protein-coding 1606236 FLJ23584 hypothetical FLJ23584 15231748,14702039,12477932 79640 NM_001142964,CH471095,Z83840,AK027237,AK095008,AK131457,BC007210,BC035403 NP_001136436,EAW60455,EAW60457,CAI17918,BAB15702,BAD18602,AAH07210,Q5H9C3,Q6ZMX3,Q9H5C5,C9J442 Hs.517653 FLJ23584 CTA-216E10.6|OTTHUMP00000199327|putative uncharacterized protein C22orf46 protein-coding 1603532 FLJ23834 hypothetical protein FLJ23834 18029348,14702039,12690205,12477932,20833655 222256 BC111696,AC004836,AC004964,CH236947,CH471070,AK074414,AK125261,AK126338,AK131293,AK304118,AK304352,NM_152750,BC111738,CR607992,DC416640 NP_689963,EAL24403,EAW83375,EAW83376,EAW83377,EAW83378,BAB85073,BAC86529,BAG54762,BAH14108,BAH14166,AAI11697,AAI11739,Q6ZTQ4 Hs.150120 CDH28|FLJ23834|FLJ43271|MGC133292|MGC133293 OTTHUMP00000212239|cadherin-like protein 28|cadherin-related family member 3 protein-coding 1603276 FLJ25006 uncharacterized serine/threonine-protein kinase SgK494 15489334,14702039,12477932,12471243 124923 AC005726,CH471159,AK057735,AK294189,AK316079,BC045622,BC147005,BC147009,NM_001174103 EAW51108,EAW51109,EAW51110,EAW51111,BAB71555,BAG57505,BAH14450,AAH45622,Q96LW2,AAI60139,NP_001167574 Hs.514033 FLJ25006|FLJ78978|MGC39533|SGK494 sugen kinase 494|uncharacterized serine/threonine-protein kinase SgK494 protein-coding 2292051 FLJ25328 hypothetical LOC148231 12477932 148231 NR_024336,NR_024335,AC004790,AC114273,CH471106,AK058057,BC031284,BC069223,BC104220,BC104221,DB461577 EAW84519,EAW84520,BAB71644 Hs.631621 MGC126002 miscrna 2298831 FLJ25758 hypothetical locus FLJ25758 12477932 497049 NR_024372,AC025278,CH471139,AK098624,AY090781,BC033035,BC110987 EAW69052 Hs.367930 MGC111465 miscrna 1602259 FLJ25996 FLJ25996 protein 12477932 401109 BC151150,NR_034088,AC139666,AK129507,BC144578,BC144579,BC144580 AAI51151,BAC85170,Q6ZPD5 Hs.280133 FLJ25996 miscrna 1602267 FLJ26056 hypothetical protein LOC375127 375127 XM_001126757,NM_201401,AC008079,AC011718,AK129567 Q6ZPC6,XP_001126757,NP_958803,BAC85185 Hs.535667,Hs.652126 protein-coding 1606078 FLJ26850 FLJ26850 protein 12477932 400710 NR_027257,AC010624,AK130360,AW014112,AW026143,BC130542,BC130544 BAC85332 Hs.628968 MGC163414|MGC163416 miscrna 1603262 FLJ30058 hypothetical protein FLJ30058 18029348,15772651,15489334,14702039,12477932 158763 AL590131,CH471107,AK054620,AK128203,AK294274,AK296748,BC063790,CD107623,CR619310,CR625224,NM_144967 NP_659404,CAI41398,CAI41399,CAI41400,CAI41401,EAX11793,EAX11794,EAX11795,BAB70776,BAC87322,BAH11720,BAH12425,AAH63790,Q6ZRI8 Hs.22905 FLJ30058|RP13-102H20.1 OTTHUMP00000024023|OTTHUMP00000024024|OTTHUMP00000024026|rho GTPase-activating protein 36 protein-coding 1603269 FLJ31958 hypothetical protein FLJ31958 14702039 143153 AK056520 BAB71202,Q96MT0 Hs.706372 protein-coding 2303663 FLJ32063 hypothetical LOC150538 14702039,12477932 150538 NR_026830,AC017096,CH471063,AK056625,AK123639,AK290476,AK291368,AK311461,BC035902,BC101782,BC113374 EAW70182,EAW70183,BAB71234,BAF83165,BAF84057,Q96MQ0 Hs.721226 MGC126831 miscrna 1604205 FLJ32065 hypothetical protein FLJ32065 14702039,12477932,15489334 201283 NR_026903,AC037487,CH471099,AK056627,AK311317,BC003669,BC063466,BC073870,BX537538,CR595347 EAW88989,EAW88990,EAW88991,EAW88992,BAB71235 Hs.396447 DKFZp686D22101|FLJ32065|MGC90301 pseudo 1603264 FLJ32154 hypothetical protein FLJ32154 14702039 149650 AL357033,CH471077,AK056716,XM_003119825,XR_109590,XR_115399 CAI17067,EAW75354,Q5JT57,XP_003119873 Hs.173280 RP11-93B14.6 hypothetical protein LOC149650 protein-coding 2292055 FLJ32214 hypothetical LOC147664 18826608,15231748,14702039,12477932 147664 EU853142,NM_152473,AC010328,CH471135,AK056776,BC104018,BC104019,BC104020,BC113852,BC114460 ACI62853,NP_689686,EAW72108,BAB71281,Q96MK7 Hs.44329 ENVV1|FLJ32214|env envelope glycoprotein ENVV1 protein-coding 1604419 FLJ32679 golgin-like hypothetical protein LOC440321 17672918,14702039,12477932 440321 NM_001012452,AC139511,AK057241,AK292534,BC099913,BC110417,BC144672,BC150302,DQ309038 NP_001012455,BAF85223,AAH99913,AAI10418,AAI50303,ABD73922 Hs.510812,Hs.648235 MGC102859|MGC104696 protein-coding 1606127 FLJ32682 hypothetical protein FLJ32682 14702039,12477932,20379614 220081 NM_182542,AL139326,CH471075,AK057244,BC131494 NP_872348,CAH72890,EAX08745,BAB71393,AAI31495,Q5W0A0 Hs.668747 FLJ32682 hypothetical protein LOC220081 protein-coding 1604906 FLJ33360 FLJ33360 protein 14702039,12477932,20379614 401172 NR_028351,AC010635,CH471102,AK090679,BC132707,BC132709 EAX08111,BAC03503,AAI32708,AAI32710,Q8NBE2 Hs.376760 miscrna 4108107 FLJ33534 hypothetical LOC285150 12477932,14702039 285150 AC062028,AK090853,BC111723,CH471053,XR_040331,XR_040332,XR_040333 AAI11724,BAC03531,EAX00945,Q8N2B8 MGC133163 miscrna 2304162 FLJ34503 hypothetical FLJ34503 14702039,12477932 285759 NR_027060,AL671967,CH471051,AK091822,BC093647,BC101497 EAW48257,BAC03756 Hs.376634 MGC126546 miscrna 4108252 FLJ34690 hypothetical protein FLJ34690 12477932,14702039,16344560 284034 AC005358,AC006079,AC068442,AK092009,BC122562,BC122870,DB255288,NR_034144,NR_034145 BAC03788,Q8NAV9 Hs.376614 miscrna 1602281 FLJ35220 hypothetical protein FLJ35220 17207965,20819778,14702039,12477932,16169070,8889548 284131 NM_173627,AC120024,CH471099,DQ500957,AK092539,AK096344,AK096802,AK123689,BC037889,BC045824,BC059781,BC064545,BX647411,CR617882,BM714470,BU553848,NM_001164637,NM_001164638 ADQ32588,NP_775898,EAW89602,EAW89603,EAW89604,EAW89605,EAW89606,EAW89607,EAW89608,EAW89609,EAW89610,EAW89611,EAW89612,EAW89613,EAW89614,EAW89615,ABF47100,BAC03912,BAC04765,BAC85677,AAH37889,AAH45824,AAH64545,Q6ZW30,Q8N8Q3,NP_001158109,NP_001158110 Hs.389678 MGC74455 hypothetical protein LOC284131 protein-coding 4108098 FLJ35424 hypothetical FLJ35424 14702039 285492 AK092743,AL121796,CH881024,XR_040705,XR_040706,XR_040707 BAC03963,EAW50497 Hs.145563 miscrna 1605246 FLJ35848 hypothetical protein FLJ35848 8889549,14702039,12477932 284071 AA205120,AK097747,DB460166,NM_001145080,AC091152,CH471178,AK093167,AK302001,BC035159,BC041481,BC132822,BC136642,DB459438,DV080633 NP_001138552,EAW51590,BAC04083,BAG63404,AAH35159,AAH41481,AAI32823,AAI36643,A2RUB1 Hs.349758 FLJ35848|FLJ40428|MGC43301 OTTHUMP00000202970|hypothetical protein LOC284071 protein-coding 4108125 FLJ35934 FLJ35934 12477932,14702039 400579 AK093253,AL353997,BC033201,XR_041166 Q8NA20,BAC04110 Hs.375092 miscrna 1602288 FLJ36031 hypothetical protein FLJ36031 14702039,12690205,12477932,12107410,8889549 168455 NM_175884,AC004917,CH236947,AA191066,AK093350,BC013906,BC032243,CA397148,CK904414,AI674055,AK021498,AK098422 NP_787080,EAL24398,BAC04142,AAH13906,Q8N9Z2 Hs.29692,Hs.728349 FLJ11436|FLJ25556|FLJ36031|MGC16181 hypothetical protein LOC168455 protein-coding 1602047 FLJ36131 hypothetical protein FLJ36131 14702039,12477932 338999 XM_001722016,XM_001722364,XM_001722366,AC138750,AK093450,BC127816 XP_001722068,XP_001722416,XP_001722418,BAC04170,AAI27817,Q8N9W7 Hs.531569,Hs.569472 protein-coding 1602637 FLJ36208 hypothetical protein FLJ36208 15489334,15616553,14702039,12477932 283948 NM_176677,CH471112,AK093527,BC032015,BC048340,BC113527,BC113529,CR616825 P0CG21,NP_788850,EAW85801,BAC04193,AAI13528,AAI13530 Hs.664267 FLJ36208 NHL repeat containing 4|NHL-repeat-containing protein 4 protein-coding 1601811 FLJ37078 hypothetical protein FLJ37078 15489334,14702039,12853948,12477932 222183 NM_001110199,AC005077,AK092590,AK094397,BC029292,BC063788,BC071856,BC096755,BE466083,CA949697,CR623032,BC045627 NP_001103669,BAC03922,BAC04346,A6NNA2 Hs.511025 FLJ35271|FLJ37078 SRRM2-like protein|serine/arginine repetitive matrix protein 3 protein-coding 1601922 FLJ37396 hypothetical protein FLJ37396 14702039 285754 XM_001722396,XM_001726130,XM_001725471,AL355305,AL359712,CH471051,AK094715 XP_001722448,XP_001726182,XP_001725523,EAW48358,EAW48359,EAW48360,BAC04406,Q8N1W0 Hs.652880 hypothetical protein LOC285754 protein-coding 1604480 FLJ37543 hypothetical protein FLJ37543 14702039,12477932 285668 NM_173667,AC026746,AC094086,CH471137,AK094862,AK127800,BC111982,BC112008 NP_775938,EAW51393,BAC04439,AAI11983,AAI12009,Q2M2E5 Hs.683866 FLJ45901|MGC138187|MGC138213 OTTHUMP00000221970|hypothetical protein LOC285668 protein-coding 1602963 FLJ38723 hypothetical protein FLJ38723 12477932,14702039 255180 XR_041379,XR_041380,XR_041381,AC126323,CH471082,AK096042,BC131692 EAW77611,EAW77612,EAW77613,BAC04685,AAI31693,Q8N8X6 Hs.720441,Hs.370479 miscrna 2307245 FLJ39653 hypothetical FLJ39653 16341674,14702039,12477932,12107410,16344560 202020 NR_027696,NR_027697,AC006427,AC110088,CH471069,AI770046,AK093550,AK096972,BC010030,BC025666,BC132927,BF732723,BQ082500,CA391675,DA640966,DA797317,DA920057,DB123134,DR004294 EAW92764,BAC04194,BAC04916,Q8N8D0 Hs.445315 miscrna 2303830 FLJ39739 hypothetical FLJ39739 14702039,12477932 388685 NR_027468,AL022240,AL592207,AL691471,AK097058,AK309393,AK310056,AK310186,BC071624 BAC04939,Q8N8A9 Hs.406990,Hs.713362 FLJ17098|FLJ17228|FLJ99434 miscrna 1603152 FLJ40113 golgi autoantigen, golgin subfamily a-like pseudogene 16344560,14702039,12477932 374650 NR_003246,AC048382,AK092490,AK097432,AK130562,AK301885,BC131532,BX647899,DB050061 BAC03904,BAC05050,BAG63317,A6NFL8,Q8N824 Hs.454625,Hs.498345,Hs.534573,Hs.534900,Hs.630181 FLJ35171|FLJ40113|GOLGA6L8|MGC141816 pseudo 1604993 FLJ40125 protein phosphatase 1B-like 14702039,12477932 147699 NM_001080401,AC138534,CH471126,AK097444,BC028228,BC062452 NP_001073870,EAW57360,BAC05056,AAH28228,AAH62452,Q8N819 Hs.532872 FLJ40125 OTTHUMP00000179174|OTTHUMP00000179175|OTTHUMP00000201830|OTTHUMP00000201831|OTTHUMP00000201832|OTTHUMP00000201834|probable protein phosphatase 1B-like|probable protein phosphatase 1N|protein phosphatase 1B-like protein-coding 4108631 FLJ40194 hypothetical FLJ40194 14702039 124871 AC004797,AK097513,BI463223,CH471109,NR_034161 BAC05083,EAW94685,Q8N7Z3 Hs.446890 miscrna 1603344 FLJ40288 hypothetical protein FLJ40288 14702039 286023 Q8N7V8 NM_173682,AC009365,CH236950,CH471070,AK097607 Q8N7V8,NP_775953,EAL24075,EAW83797,EAW83798,BAC05118 Hs.671875 protein-coding 1604172 FLJ40448 hypothetical protein FLJ40448 14702039,12477932 339059 Q2NKK6,Q8N7R2 NM_182605,AC138028,AK097767,BC111769 NP_872411,BAC05165,AAI11770,Q2NKK6,Q8N7R2 Hs.449817 MGC133175 protein-coding 1602156 FLJ40453 FLJ40453 protein 14702039 401217 Q8N7Q8 NM_001007542,AC008671,AK097772 NP_001007543,BAC05169,Q8N7Q8 Hs.531911 protein-coding 1605243 FLJ40504 keratin 18 pseudogene 20379614,14702039,12477932 284085 NR_028334,AC061975,CH471159,AK097823,BC112026,BC112028 EAW51066,BAC05178,AAI12027,AAI12029,Q8N7Q0 Hs.371796 MGC138231|MGC138233 pseudo 1601701 FLJ40852 hypothetical LOC285962 14702039,12477932 285962 NR_015392,AC004918,CH236950,CH471070,AK098171,BC101358,BC101359,BC101360,BC131564,AC211775 EAW83976 Hs.17589 miscrna 1604678 FLJ41170 FLJ41170 protein 440200 Q6ZWF7 NM_001004332,AL132709,AK123165,BC132807 NP_001004332,BAC85546,AAI32808,Q6ZWF7 Hs.611431 protein-coding 1604912 FLJ41423 FLJ41423 protein 399886 Q6ZW93 NM_001001679,AC018716,CH471064,AK123417,BC130636,BC130638 NP_001001679,EAW68041,BAC85611,AAI30637,AAI30639,Q6ZW93 Hs.559970 protein-coding 1602402 FLJ41603 FLJ41603 protein 14702039,12477932 389337 NM_001001669,AC021078,AC022100,AC116360,CH471062,AB199796,AK023814,AK123597,BC041325,BF508325,BF510234,AK300355,AK300559,AK316002 NP_001001669,EAW61765,EAW61766,BAF43710,BAC85655,A1IGU5,BAG62096,BAG62265,BAH14373 Hs.256206 FLJ41603 Rho guanine nucleotide exchange factor (GEF) 37|rho guanine nucleotide exchange factor 37 protein-coding 1602151 FLJ41649 FLJ41649 protein 12477932 401260 XR_108645,XR_112888,XR_113889,AL139275,AK123643,BC132803,BC132805,R41561 Hs.654837 miscrna 1602796 FLJ41733 FLJ41733 protein 400870 Q6ZW23 NM_207473,AP001046,AK123727 NP_997356,BAC85684,Q6ZW23 Hs.517320 protein-coding 1602150 FLJ41841 FLJ41841 protein 401263 Q6ZW05 NM_207499,AL121973,AL139336,AL161622,AL353138,AK123835 NP_997382,BAC85703,Q6ZW05 Hs.659409 protein-coding 1605179 FLJ42258 FLJ42258 protein 440049 Q6ZVP4 NM_001004327,AP001888,AK124252,BC133014,BC133018 NP_001004327,BAC85817,AAI33015,AAI33019,Q6ZVP4 Hs.653187 protein-coding 1604426 FLJ42280 FLJ42280 protein 12477932,19801982 401388 NM_001201450,NM_001201451,AC092031,CH236949,AK124274,BC140736,BC171740,XR_108848,XR_110715,XR_113033,XR_114066 NP_001188379,NP_001188380,BAC85824,Q6ZVN7,AAI40737,AAI71740 Hs.534805 hypothetical protein LOC401388 protein-coding 1604921 FLJ42289 hypothetical LOC388182 16344560,14702039,12477932 388182 NR_028139,NR_028140,AC015723,CH471101,AK057536,AK124283,AY605659,BC028144,BC068097,BC132704,BC132706,DB060272 EAX02265,EAX02266,BAC85825,AAV83777,AAH28144,Q6ZVN6 Hs.136982 FLJ32974|HSD47 miscrna 2298827 FLJ42393 hypothetical LOC401105 12975309,12477932 401105 NR_024413,AC022498,AK124384,AY358227,BC132980,BC132982 BAC85844,AAQ88594,Q6UXS4,Q6ZVL7 Hs.679026 AVPC1948 miscrna 1605782 FLJ42953 breakpoint cluster region pseudogene 14702039,10591208,3267213 400892 NG_007131,AP000550,AK124943 BAC86000 Hs.726484 BCR-2|BCR2|BCRL2|FLJ36027|FLJ42953 pseudo 1606088 FLJ42986 FLJ42986 protein 389012 XM_001128206,XM_001127714,AC092570,CH471127,AK124976,AK131289 XP_001128206,XP_001127714,EAX01812,EAX01813,BAC86013,BAD18461,Q6ZNB4,Q6ZV50 Hs.647811 protein-coding 1604922 FLJ43276 similar to ubiquitin-conjugating enzyme E2Q 2 388165 NR_003661,AC048382,AK125266 BAC86104 Hs.498348 FLJ43276|UBE2QP1 pseudo 1602799 FLJ43806 hypothetical protein FLJ43806 14702039,12477932,9110174,8619474 399563 Q5TGF1,Q6ZUD1 AF052120,AK057155,AK125388,AK125794,BC101637,BC113621,BX648256,NM_201628,AL034395,AL035405,AL391215 CAI13901,BAC86294,AAI01638,AAI13622,Q5TGF1,Q6ZUD1,NP_963922,CAI19921,CAI19832 Hs.631868 MGC126686|RP1-21O18.1 protein-coding 2859971 FLJ43826 FLJ43826 protein 12477932 342666 AC091178,AK125814,BC111725,NR_033753 AAI11726,BAC86303,Q6ZUC2 MGC133195 pseudo 1602032 FLJ43860 FLJ43860 protein 16344560,12477932 389690 HC006996,HC044709,NM_207414,AC100803,AC138647,CH471060,AK125848,AK131461,BC144560,DB063153,DB070296,DN831584 CBH19303,CBH30684,NP_997297,EAW92232,EAW92233,EAW92234,BAC86317,BAD18606,Q6ZMW9,Q6ZUA9,AAI72345 Hs.689547 hypothetical protein LOC389690 protein-coding 4108658 FLJ43879 FLJ43879 protein 401039 AC114788,AC142117,AK125867,NR_034162 BAC86326,Q6ZUA0 Hs.516791 miscrna 1602400 FLJ44048 FLJ44048 protein 11181995,12477932,12606363,14702039,20379614,20877624 401024 AC007966,AK092099,BC121088,BC121089,BC128052,BC148281,CR936597,NM_173651,AK126104,BX647691,BX648733,AC008174,CH471058,AK126036,AK126051,AK126089 BAC86432,BAC86442,CAI46017,Q5CZC0,Q6ZTY5,EAX10939,EAX10940,BAC86406,AAI21089,AAI21090,AAI28053,AAY14863,AAY15001,BAC03804,CAI56743,NP_775922,Q0IJ58,Q8NAU3 Hs.98025 DKFZp781I24108|FLJ34780|FLJ44048|FLJ44063|FLJ44101|FLJ44116 FLJ44048 protein|fibrous sheath-interacting protein 2 protein-coding 1605186 FLJ44076 FLJ44076 protein 401080 Q6ZU06 NM_207486,AC069222,AK126064,BC132843,BC132847 NP_997369,BAC86421,AAI32844,AAI32848,Q6ZU06 Hs.518032 protein-coding 1601790 FLJ44635 TPT1-like protein 12477932,14702039 392490 NM_207422,BX119917,AK126598,AY572224,BC137552,BC137564 NP_997305,BAC86606,AAS76644,AAI37553,AAI37565,Q56UQ5 Hs.660859 TPT1-like protein protein-coding 1602261 FLJ44653 FLJ44653 protein 12477932,16385451,20206252 399833 AL161645,AK126615,BC136964,NR_033789 BAC86613,Q6ZTH4,AAI36965 Hs.660426 FLJ44653|SPRNP1 pseudo 1602149 FLJ44955 FLJ44955 protein 12477932 401278 Q6ZT50 NM_207500,AL023806,AK126903,BC118596,BC122560 NP_997383,BAC86744,AAI18597,AAI22561,Q6ZT50 Hs.648061 protein-coding 1603144 FLJ45079 FLJ45079 protein 400624 NR_028337,AC015804,CH471099,AK127023,AK128332 EAW89479,BAC86792,BAC87388,Q6ZRC4 Hs.514521 FLJ46474 miscrna 1603236 FLJ45121 FLJ45121 protein 400556 Q6ZSY7 NM_207451,AC138028,CH471184,AK127064 NP_997334,EAW66774,BAC86809,Q6ZSY7 Hs.437712 protein-coding 1602797 FLJ45139 FLJ45139 protein 400867 NM_001001692,AF064858,AP001042,AP001043,AP001044,AP001045,AK127082 NP_001001692,BAC86818,Q6ZSX8 Hs.689509 protein-coding 2292050 FLJ45244 hypothetical locus FLJ45244 12477932,20339536 400242 BC040596,BC132912,BI754942,BX642509,BX648898,CR611440,NR_015415,AL356017,AK127179 Q6ZSS4,BAC86872 Hs.497573,Hs.712518 miscrna 1603237 FLJ45256 FLJ45256 protein 400511 Q6ZSR6 NM_207448,AC002565,AK127191,BC132761,BC132789 NP_997331,BAC86880,AAI32762,AAI32790,Q6ZSR6 Hs.592028 protein-coding 1606071 FLJ45337 FLJ45337 protein 400754 Q6ZSN9 NM_207465,AL603840,AL691473,AK127270 NP_997348,BAC86909,Q6ZSN9 protein-coding 1605773 FLJ45422 FLJ45422 protein 12477932 441140 NM_001004349,AL662782,AL662832,AL844220,CH471081,AK127349,BC139904,BC141846 NP_001004349,EAX03278,EAX03279,BAC86939,AAI39905,AAI41847,Q6ZSK9 Hs.656020 protein-coding 1602260 FLJ45445 FLJ45445 protein 399844 AK303004,BC117566,NR_028324,AC010507,AC092299,AK128780 BAG64137,BAC87609,Q6ZQS4 Hs.711406,Hs.716190,Hs.512417 FLJ56364 miscrna 1604911 FLJ45721 FLJ45721 protein 401123 Q6ZS92 NM_207490,AC024132,AK127623 NP_997373,BAC87062,Q6ZS92 Hs.429441 protein-coding 1606636 FLJ45831 FLJ45831 protein 400576 NM_001001684,AC005863,AK127731 NP_001001684,BAC87106,Q6ZS49 Hs.446616 protein-coding 1602028 FLJ45974 FLJ45974 protein 401337 Q6ZRY6 AK127870,NM_001001707,AC007964,AC074348,CH236957 BAC87170,Q6ZRY6,NP_001001707 Hs.531378 protein-coding 1602401 FLJ45983 hypothetical LOC399717 12477932,21037568,19692168 399717 NR_024255,NR_024256,AL390294,AK128810,AW611680,BC036297,BC128075,BC128097,BC141936,BC141937,CR615146 BAC87617,Q6ZQR6 Hs.158992,Hs.568835,Hs.669736 MGC165262 miscrna 1605489 FLJ46257 FLJ46257 protein 12477932 400932 Z83854,CH471138,AK128136,BC132762,BC132788,AL117329,BC144501,NR_033377 EAW73451 Hs.561058 miscrna 1601912 FLJ46321 FAM75-like protein FLJ46321 389763 NM_001001670,AL355985,CH471089,AK128831 NP_001001670,EAW62640,BAC87631,Q6ZQQ2 Hs.209545 FLJ46321 FAM75-like protein FLJ46321|hypothetical protein LOC389763 protein-coding 1606086 FLJ46347 hypothetical LOC389064 389064 Q6ZRH9 NM_001005303,AC018470,AK128215 NP_001005303,BAC87331,Q6ZRH9 Hs.516603 protein-coding 1604144 FLJ46358 FLJ46358 protein 400110 XM_001715330,XM_001717332,XM_001716376,AL445985,CH471075,AK127292,AK128225 XP_001715382,XP_001717384,XP_001716428,EAX08330,BAC86920,BAC87336,Q6ZRH4 Hs.591222 FLJ46358 protein|hypothetical protein LOC400110 protein-coding 1606387 FLJ46361 deleted in malignant brain tumors 1 pseudogene 375940 NR_003570,AL731543,AK128228 BAC87338,A6NE64 Hs.650695 pseudo 1603807 FLJ46836 FLJ46836 protein 401554 Q6ZQW9 NM_207509,AL360004,AK128673,BC132936 NP_997392,BAC87564,AAI32937,Q6ZQW9 Hs.522437 protein-coding 1606627 FLJ46838 FLJ46838 protein 440865 NM_001007546,AC073082,AK128867 NP_001007547,Q6ZQN3 Hs.674050 protein-coding 2303670 FLJ90757 hypothetical LOC440465 16303743,14702039,12477932 440465 NR_026857,AC127496,CH471099,CQ783882,AK027350,AK056555,AK075238,AK096609,AK124762,BC110822 EAW89624,CAF86906,BAC11491,Q8NBT7 Hs.448889 FLJ14444|FLJ31993|FLJ39290|FLJ42772|MGC131745 miscrna 1354471 FLNA filamin A, alpha The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene. 1580863,1598953,1598954 11102480,11038172,10637311,10617615,9883725,9722563,9490735,9437013,9412467,9006895,8871564,8733135,8674032,8609175,8406501,8290091,8088819,7689010,3658675,2248958,2177445,1733165,208386,12119179,12181426,11320256,20598277,20937704,19759913,21036706,14630798,20562859,20808917,20936779,17357080,11146652,1833070,10051605,2391361,3138234,4044584,12761501,15684392,17536008,18322202,10692483,19293932,19292868,19213840,19177143,19144823,19137608,19018795,19002047,18829455,18799729,18644866,18598695,18556573,18487259,18427995,18404377,18201775,18056414,18029348,17897634,17690686,17572668,17431908,17420725,17408621,17389601,17235394,17190868,17081983,17060905,16964243,16949617,16862148,16849481,16835913,16611986,16596676,16565220,16482509,16442073,16299064,16106752,16076904,16030015,15994863,15940695,15862967,15837785,15687500,15668422,15657061,15654694,15592455,15459826,15342556,15324660,15302935,15249610,15231748,15194946,15128042,15024089,14988809,14718723,14702039,14660646,12923176,12791664,12753905,12750292,12734206,12704190,12682292,12679033,12612583,12589795,12531889,12477932,12410386,12393796,12324467,12198493,12169691,12106908,12055638,12006559,11943148,11914408,11911837,11909861,11807098,11781567,11739414,11700320,11602572,11532987,11390380,11390379,11336782,11290523,11278410,11252955,11163396,11153914,19913121,20628086,20650901,20585650,20736409,14573758,15225631,16248985,16291724,16355270,16729043,16902413,17215244,17474147,19458194,19514078,19594548,19615732,19690385,19699211,19759182,19773341,19776392,19808958,19917821,19923718,20006946,20156194,20171211,20186808,20351098,20351101,20468064,6457647 1598953,1598954 2316 NM_001456,NM_001110556,NG_011506,BX664723,BX936346,CH471172,L44140,X70085,AB191259,AB191260,AB371574,AB371575,AB371576,AB371577,AB371578,AB371579,AK074048,AK090427,AK300165,AK304255,AL050396,AL157419,BC014654,BC028089,BC041179,BC067111,BC109289,BP235228,CR608106,CR614119,CR625058,X53416,GU727643 P21333,Q2VP91,Q5HY54,Q60FE5,Q60FE6,Q6NXF2,Q86TQ3,Q8TES4,Q96C61,NP_001447,NP_001104026,CAI43197,CAI43198,CAI43199,CAI43200,CAI43201,CAI43225,CAI43226,CAI43227,EAW72744,EAW72745,EAW72746,EAW72747,EAW72748,AAA92644,CAA49690,BAD52435,BAD52436,BAG48303,BAG48304,BAG48305,BAG48306,BAG48307,BAG48308,BAB84874,BAC03408,BAG61947,BAG65121,AAH14654,AAH41179,AAH67111,AAI09290,CAA37495,ADU87644 Hs.195464 ABP-280|ABPX|CVD1|DKFZp434P031|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD FLN-A|actin binding protein 280|alpha-filamin|endothelial actin-binding protein|filamin 1|filamin-1|filamin-A|non-muscle filamin protein-coding 1323621 FLNB filamin B, beta 1601170,1601168,1580863 16106752,8327473,10676904,16076904,9694715,9651345,19505475,19054571,19052145,19039035,18815275,18809679,18799729,18487259,18257094,18029348,16964243,16801345,16752402,15994868,15592455,15054484,14991055,14702039,12525170,12496242,12393796,12077712,12006559,11807098,11739414,11336782,11252955,11153914,10449914,9437013,7485161,12119179,20634891,10644691,15231748,17474147,19453265,19615732,19727905,20379614 1601170,1601168 2317 NM_001457,NM_001164317,NM_001164318,NM_001164319,NG_012801,AC114399,AC137936,AF191633,AF353667,CH471055,AB191258,AB209889,AB371580,AB371581,AB371582,AF042166,AF043045,AF238609,AF353666,AK022486,AL137574,AL699183,AL833551,BX641085,CR618796,CR749793,M62994 NP_001448,NP_001157789,NP_001157790,NP_001157791,AAF72339,AAL68440,AAL68441,AAL68442,AAL68443,EAW65352,EAW65353,EAW65354,EAW65355,EAW65356,EAW65357,BAD52434,BAD93126,BAG48309,BAG48310,BAG48311,AAC39842,AAC33845,AAF97046,AAL68439,CAB70818,CAE46040,CAH18654,AAA35505,O75369,Q60FE7,Q68CT4,Q8WXT3,AAI56185 Hs.476448 ABP-278|ABP-280|AOI|DKFZp686A1668|DKFZp686O033|FH1|FLN1L|LRS1|SCT|TABP|TAP ABP-280 homolog|FLN-B|OTTHUMP00000214211|OTTHUMP00000214213|actin binding protein 278|actin-binding-like protein|beta-filamin|filamin 1 (actin-binding protein-280)-like|filamin homolog 1|filamin-3|filamin-B|thyroid autoantigen|truncated ABP|truncated actin-binding protein protein-coding 1318791 FLNC filamin C, gamma This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16501887,20562859,20936779,20417099,16076904,18029348,19472918,19151983,18487259,17987659,17825253,17412757,17379241,17174070,15929027,15642266,15461588,15159586,14702039,14506720,12525170,12480088,12438262,12376540,12006559,11842093,11739414,11252955,11171996,11153914,11102480,11038172,10984498,10658210,10629222,9791010,9694715,9412467,9006895,8681137,8088838,7689010,12119179,15385448,19913121,20628086,20732627,20578970,12393796,12679033,12704190,15231748,15525470,17474147,19050726,19615732 2318 NM_001127487,NG_011807,AC025594,AF184126,AF252549,AJ132990,CH236950,CH471070,AB208865,AB371585,AF089841,AF146692,AJ012737,AK001048,F30928,X70083,NM_001458,X70084 NP_001449,NP_001120959,AAF68195,AAF67190,CAB51535,EAW83689,EAW83690,EAW83691,BAD92102,BAG48314,AAD12245,AAF80245,CAB46442,BAG50853,CAA49688,CAA49689,Q14315,Q59H94 Hs.58414 ABP-280|ABP280A|ABPA|ABPL|FLJ10186|FLN2 ABP-280-like protein|ABP-L, gamma filamin|FLN-C|actin binding protein 280|actin-binding-like protein|filamin 2|filamin-2|filamin-C protein-coding 736684 FLOT1 flotillin 1 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT1 encodes a caveolae-associated, integral membrane protein. The function of flotillin 1 has not been determined. [provided by RefSeq] 1580863 10212252,16480949,18029348,18000879,9153235,19318123,19258392,19121286,18660489,17600709,17587329,17307333,17113085,17081065,16341206,16198165,15939299,15862967,15545008,15489334,15469992,15128873,14708344,12477932,11598189,11481476,11167132,11159550,11042152,11001060,10931946,10462713,9373149,8125298,15120622,19348413,15569306,16169070,19404397,19815536,19851445,20027317 10211 CR759873,CR788240,CR936878,CT009501,AF085357,AF089750,AF117234,AK000816,AK222530,AK301291,BC001146,BC128154,BT007077,CR456946,CR595648,NM_005803,AB088101,AB103607,AB202099,AL662797,AL662848,AL845353,BA000025,BX248307,BX927283,CH471081 Q6IB58,ABM92256,ABM84741,EAX03326,EAX03327,CAQ06821,CAQ10465,CAQ10466,CAQ10467,CAQ10468,CAQ10469,AAD40192,AAC35387,AAF17215,BAD96250,BAG62849,AAH01146,AAI28155,AAP35740,CAG33227,O75955,Q53HQ0,Q5ST80,NP_005794,BAC54934,BAF31269,BAE78620,CAI18202,CAI17443,CAI41896,BAB63320,CAM25936,EAX03325 Hs.179986 OTTHUMP00000164855|flotillin-1|integral membrane component of caveolae protein-coding 735666 FLOT2 flotillin 2 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq] 1580863 10212252,14667819,8051082,12493773,1769667,19318123,18337418,18296650,18237819,17854803,17600709,17307333,17113085,17013097,16521037,15492257,15489334,12477932,12107410,11999340,11159550,10462713,9373149,8125298,20515742,11598189,15569306,19404397,19542222,19605558,20027317 2319 AC024267,CH471159,AK225491,BC003683,BC017292,BT019477,BT019478,CA390100,CR541784,CR542265,CR608595,M60922,NM_004475 ABM86861,NP_004466,EAW51152,EAW51154,AAH03683,AAH17292,AAV38284,AAV38285,CAG46583,CAG47061,AAA65729,Q14254,Q6FG43,Q9BTI6,ABM83617 Hs.514038 ECS-1|ECS1|ESA|ESA1|M17S1 Flotillin 2 (epidermal surface antigen 1)|OTTHUMP00000163513|epidermal surface antigen|flotillin-2|membrane component chromosome 17 surface marker 1|membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1) protein-coding 1345456 FLRT1 fibronectin leucine rich transmembrane protein 1 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq] 1580863 10644439,12975309,12477932,9110174,8619474 23769 NM_013280,AP006333,CH471076,AF007139,AF169675,AK289931,AY358308,BC018370 NP_037412,EAW74194,AAC19151,AAF28459,BAF82620,AAQ88675,AAH18370,O43408,Q9NZU1 Hs.584876 MGC21624 fibronectin-like domain-containing leucine-rich transmembrane protein 1|leucine-rich repeat transmembrane protein FLRT1 protein-coding 1318426 FLRT2 fibronectin leucine rich transmembrane protein 2 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRT family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. [provided by RefSeq] 1580863 10644439,16872596,15489334,15340161,14702039,12975309,12477932,9455477,8889548,19834535 23768 NM_013231,AL049775,AL132641,AL136241,CH471061,AA442817,AF169676,AK056649,AY358287,BC126249,BC130290,BC143936,BQ012006,CB267726,CB306837 ADR83244,NP_037363,EAW81352,AAF28460,BAG51774,AAQ88654,AAI26250,AAI30291,AAI43937,O43155 Hs.533710,Hs.624735,Hs.727575 KIAA0405 fibronectin-like domain-containing leucine-rich transmembrane protein 2|leucine-rich repeat transmembrane protein FLRT2 protein-coding 1350548 FLRT3 fibronectin leucine rich transmembrane protein 3 FLRT1, FLRT2 and FLRT3 are members of the fibronectin leucine rich transmembrane protein (FLRT) family. They may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. FLRT3 shares 55% amino acid sequence identity with FLRT1 and 44% identity with FLRT2. FLRT3 is expressed in kidney, brain, pancreas, skeletal muscle, lung, liver, placenta, and heart. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 1580863 16440004,10644439,18593871,16303743,15489334,14702039,12975309,12477932,11780052,10819331,16344560 23767 NM_013281,AL132826,CH471133,CQ782875,AB040902,NM_198391,AF169677,AK027297,AK027670,AK027694,AK074883,AK074909,AL529481,AY358319,BC020870,CD654700,CR596010,DA502792 NP_938205,NP_037413,CAB86687,EAX10300,EAX10301,CAF86103,BAA95993,AAF28461,BAB55023,BAB55282,BAB55303,BAC11265,BAC11284,AAQ88685,AAH20870,Q8NC95,Q9NZU0,ABM82953,ABM86145 Hs.41296 fibronectin-like domain-containing leucine-rich transmembrane protein 3|leucine-rich repeat transmembrane protein FLRT3 protein-coding 737202 FLT1 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia. 2289945,1626621,2298727,2313728,2313731,2289084,2289965,2289936,2289963,2289966,2289937,2289948,2289960,2289961,2289962,2289964,2301252,2313719,2313721,2313725,2301251,2301256,2301253,2301254,2313724,2301250,2301255,1582493,1580863,1582494,1582498,704404,4891938 20615131,20222950,20674013,18304425,18936439,20103598,20103604,20158393,20199197,20484670,20666936,20805333,20395257,20635108,11862609,11852061,11839635,11824379,11811792,11807987,11806246,11751905,11741094,11693202,11513746,11312102,11289156,11157498,11134362,11056124,10865839,10842181,10749680,10738243,10737800,10642585,10585578,10579917,10543948,10471394,9973224,9931493,9751730,9722576,9600074,9472937,16169405,16095053,16021077,16021053,16005848,15886253,15817662,15817508,15735759,15711751,15705187,15665766,15649874,15610528,15610240,15589171,15503825,15492987,15489334,15472115,15329326,15284201,15272021,15183893,15166498,15160911,15135240,14996703,14967383,14760936,14687619,14684734,14674128,14654077,14607815,14602804,14585871,14512169,12949011,12920240,12865438,12824880,12727995,12670505,12651930,12607599,12543719,12509223,12477932,12439912,12426207,12406876,12133473,12107410,12091880,12023386,11986954,11953105,1312256,8248162,10748050,10194760,2158038,18029348,11278319,19564559,19453261,19452502,19412349,19385972,19352513,19351908,19336504,19330612,19287991,19180491,19165674,19162007,19147226,19135290,19103251,19082506,19066962,19064815,19039203,19020728,19003637,18996083,18992679,18975312,18974372,18931684,18829111,18789115,18779584,18771978,18694994,18691902,18665074,18656381,18639520,18636124,18631405,18627789,18625704,18609713,18604718,18598002,18593464,18566591,18566400,18515749,18451223,18421240,18379030,18374411,18356031,18343373,18332870,18330824,18317954,18315732,18295763,18287964,18284215,18264952,18175242,18175241,18097592,18079407,18053608,18037256,18006819,17982238,17975225,17964871,17956955,17956952,17891484,17722983,17696935,17661207,17615362,17599955,17570036,17550303,17507435,17486129,17409768,17379761,17336974,17287067,17259514,17242190,17210583,17197602,17189520,17118734,17109193,17088944,17071533,17013089,16968555,16959214,16835828,16786116,16685275,16671089,16616080,16530326,16496302,16488907,16432214,16344560,16341007,16286478,16251410,16249383,16248895,9452434,9398617,9299537,9269752,9256359,8621427,8126087,8111406,7707437,3115921,3040650,10409677,12796773,12810700,14600159,7657594,20512933,20515481,19913121,20501651,20602615,20628086,20673868,19834490,21212411,20488538,14702039,11877075,12366396,17051153,17562275,17633783,19200976,19261502,19269632,19302266,19324337,19350449,19409555,19501525,19608702,19631980,19633424,19658040,19701853,19707156,19716155,19718025,19720604,19734545,19741061,19811263,19816083,19816604,19850021,19860625,19919522,19936766,19948974,20007583,20015944,20026801,20124108,20149032,20164029,20169144,20179233,20223440,20350647,20452482,20453000,9393862,19895348,20428821,20491879,20695190 2289945,1626621,2298727,2313728,2313731,2289084,2289965,2289936,2289963,2289966,2289937,2289948,2289960,2289961,2289962,2289964,2301252,2313719,2313721,2313725,2301251,2301256,2301253,2301254,2313724,2301250,2301255,1582493,1582494,1582498,4891938 2321 NG_012003,NM_001159920,NM_001160030,NM_001160031,AL138712,AL139005,CH471075,CQ871317,CS172284,D00133,AB209050,AF063657,AK292936,AK300392,AK309901,BC029849,BC039007,BE180461,NM_002019,BX504049,CA396081,CR593658,CR606445,CR611216,CR615327,DA844548,DA851664,DQ836394,DQ836395,DQ836396,EF491868,EF491869,EF491870,EU360600,EU368830,EU443152,EU826561,EU826562,S77812,S77814,U01134,BU151621,EU332841,HD077716,AK092472,CR593388 NP_002010,NP_001153392,NP_001153502,NP_001153503,CAI14846,CAI17096,EAX08431,EAX08432,CAH56859,CAJ33638,BAA00080,BAD92287,AAC16449,BAF85625,BAG62125,AAH39007,ABI53803,ABI53804,ABI53805,ABS32268,ABS32269,ABS32270,ACB05747,ACA62948,ACA21474,ACF47597,ACF47598,AAB34001,AAB34002,AAC50060,P17948,Q16332,Q16333,Q59GQ9,ABY87530,CBW44131 Hs.594454 FLT|VEGFR1 FLT-1|VEGFR-1|fms-like tyrosine kinase 1|tyrosine-protein kinase FRT|tyrosine-protein kinase receptor FLT|vascular endothelial growth factor receptor 1|vascular permeability factor receptor protein-coding 1321714 FLT3 fms-related tyrosine kinase 3 This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. The receptor consists of an extracellular domain composed of five immunoglobulin-like domains, one transmembrane region, and a cytoplasmic kinase domain split into two parts by a kinase-insert domain. The receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq] 2302210,2302211,2302209,2302208,1580863,1598955 20670134,20525753,20656931,20098747,20571062,20800603,20880116,20959405,20966504,20981678,21067377,15150124,20807885,20872983,21067588,21173125,21180092,17851551,8394751,7507245,19637342,19635202,19603346,19562748,19557552,19540590,19536888,19464057,19411632,19351817,19345670,19330068,19309322,19279329,19221039,19204327,19181784,19181379,19176014,19176010,19151774,19144660,19141860,19085113,19059939,19052993,19052976,19016763,18977345,18955790,18925699,18797870,18755984,18670883,18641025,18605083,18559874,18503825,18490735,18483393,18473998,18464120,18450602,18343790,18336585,18309032,18305215,18303245,18270328,18261272,18192505,18192111,18184863,18156731,18096476,18081718,18071308,18068628,18067020,18067018,18024407,18024405,17983653,17972951,17965322,17957027,17943971,17940205,17936561,17910045,17881646,17881645,17851558,17763464,17690703,17668209,17650443,17620055,17606455,17598835,17584026,17579862,17550846,17498302,17485549,17456725,17442779,17387224,17312001,17268528,17230226,17229632,17128418,17105820,17064989,17056111,17036374,16990788,16990784,16949153,16861351,16809615,16684964,16642044,16598313,16533526,16517725,16502586,16410449,16410383,16368883,16326981,16320249,16263793,16263569,16234090,16213360,16185475,16116483,16076867,16046528,16029447,16015387,15996732,15978940,15973451,15959528,15921740,15902284,15863200,15831474,15797998,15781338,15778081,15770067,15769897,15710585,15674343,15650056,15645287,15604894,15604885,15583855,15574429,15363457,15352981,15345593,15289019,15253381,15242879,15178581,15167911,15166029,15061200,15059064,15054042,15044257,14982881,14981546,14977832,14759363,14737077,14670924,14654525,14630076,14604974,14562119,14504097,12969963,12935959,12926083,12854887,12842996,12816873,12691136,12681969,12676789,12481903,12477932,12468433,12393674,12384447,12239147,12239146,12070009,12060771,12036858,11983110,11971190,11535508,11442493,11290608,11133746,11091200,11027663,10698507,10482988,10409713,10080542,10022833,9918857,9651358,9614102,8946930,7789184,7692230,2004790,18394702,7505204,12468438,19913121,20368469,20504356,20508617,20546020,20592250,20628086,20651067,20678218,20803351,20740398,20861915,20875872,17222369,17708786,17708787,17708788,17939400,19296110,19395028,19438505,19466291,19529981,19540337,19549778,19602710,19665070,19672946,19684517,19700852,19765320,19773259,19775300,19808698,19824900,19840437,19853583,19865112,19878996,19915372,19921191,19934300,19956635,19965647,19968062,19995225,20001230,20018615,20023256,20031210,20035824,20039765,20066533,20096459,20119833,20159992,20172040,20182906,20201926,20212254,20237506,20302766,20354824,20368538,20376086,20379614,20439648,20513120,20514303,20515557,20520634,20548095 2302210,2302211,2302209,2302208,1598955 2322 NM_004119,NG_007066,AL356915,AL445262,AL591024,CH471075,U82002,AW057705,BC036028,BC126350,BC144039,BC144040,BI461248,L36162,U02687,Z26652 NP_004110,CAI12447,CAI17231,CAH70634,EAX08424,EAX08425,AAB52916,AAI26351,AAI44040,AAI44041,AAA35487,AAA18947,CAA81393,P36888,Q5VTU6,Q99815 Hs.507590 CD135|FLK2|STK1 CD135 antigen|FL cytokine receptor|FLT-3|FLT3 receptor tyrosine kinase|OTTHUMP00000214829|STK-1|fetal liver kinase 2|fms-like tyrosine kinase 3|growth factor receptor tyrosine kinase type III|stem cell tyrosine kinase 1|tyrosine-protein kinase receptor FLT3 protein-coding 1353824 FLT3LG fms-related tyrosine kinase 3 ligand 1580863 15226184,14764540,14670916,12969963,12817014,12759428,12676789,12477932,12223523,12036900,12002675,11983110,11956621,11877288,11847009,11721383,11710537,11159533,10881197,10637491,9651358,9590652,7824267,7566977,7505204,8145851,8180375,18982072,18797870,17949888,16487027,15914030,15905588,15728521,15489334,20628624,20933441,20552015,16169070,19426596,20142363 2323 U29874,NM_001459,AC010619,CH471177,AI792400,AK301136,BC006331,BC011914,BC028001,BC126293,BC136464,BC144129,CR609170,U03858,U04806 NP_001450,EAW52488,EAW52489,EAW52490,EAW52491,EAW52492,EAW52493,EAW52494,AAA90950,AAA90949,BAG62728,AAH06331,AAH11914,AAH28001,AAI26294,AAI36465,AAI44130,AAA19825,AAA17999,P49771,Q05C96,ADR83352 Hs.428 FL|FLT3L SL cytokine|flt3 ligand|flt3L protein-coding 733488 FLT4 fms-related tyrosine kinase 4 This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq] 2298727,704404,1580863,1334463 20606037,18307927,20555004,20431062,19240177,19151999,19066962,19039941,19002718,18973153,18829111,18719607,18642643,18594512,18593464,18564920,18561194,18538739,18538738,18440723,18292935,18279219,18212541,18094729,18008346,18006056,17948123,17945164,17935478,17926187,17761831,17686546,17597103,17539024,17487423,17458866,17088944,17044733,16959214,16755294,16624815,16525637,16335952,16116610,15880525,15878864,15746084,15693535,15474514,15389531,15340161,15297417,15107801,15102829,14760756,14687619,14648657,12881528,12819011,12477932,12393704,12168824,12088335,12048269,11877295,11807987,11553610,10856194,10835628,10579917,9927207,9817924,9435229,8700872,8662748,7970715,7692369,7675451,1327515,16530705,9012504,11574540,8386825,19394045,19301310,19289394,1319394,1310071,12810700,19913121,20628086,20673868,20098747,14558949,15231748,16044920,16452200,17722983,19556880,19628565,19636022,19701853,19706680,19779139,19787226,19900702,19901262,19924384,19940551,20182906,20223440,20224550,20237496,20452482,9345034 2298727,1334463 2324 AAB23636 NM_182925,NM_002020,NG_011536,AC122714,CH471165,CS067238,CS172288,CS172403,CS172817,CS172819,AB209637,AK291679,AK309910,AY233382,AY233383,BC027302,CA438330,DB455035,EU826564,EU826565,EU826566,S66407,U43143,X68203,X69878,HC040608,HC040723 NP_891555,NP_002011,EAW53749,EAW53750,CAI84582,CAJ32888,CAJ33671,CAJ33685,CAJ32905,BAD92874,BAF84368,AAO89504,AAO89505,ACF47600,ACF47601,ACF47602,AAB28539,AAA85215,CAA48290,CAA49505,AAB23636,P35916,Q16067,Q59F24,Q86W07,Q86W08,AAI67816,CBH30507,CBH30547 Hs.646917 FLT41|LMPH1A|PCL|VEGFR3 FLT-4|OTTHUMP00000223512|VEGFR-3|fms-like tyrosine kinase 4|soluble VEGFR3 variant 1|soluble VEGFR3 variant 2|soluble VEGFR3 variant 3|tyrosine-protein kinase receptor FLT4|vascular endothelial growth factor receptor 3 protein-coding 1606303 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 10648427,16439531,16368877,15996880,15489334,15369674,14702039,12477932,11943475,10737800,10400745,20610401,17945326,19369334,19416867,20222826,20454576,21070897,21238504,21267618,18815190 28982 AK090739,GD138340,NM_014053,AC104333,CH471100,DQ496107,AF118637,AK001419,AK314481,BC048312,BE088852,BY800024 NP_054772,EAW93374,ABF47096,AAD45243,BAA91679,BAG37085,AAH48312,Q9Y5Y0 Hs.7055 AXPC1|FLJ33420|FLVCR|MFSD7B|PCARP OTTHUMP00000035012|feline leukemia virus subgroup C receptor|feline leukemia virus subgroup C receptor-related protein 1|hFLVCR protein-coding 1352163 FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 16439531,16344560,15489334,14729055,14702039,12508121,12477932,55640,20206334,20690116,20823265 55640 NG_027694,NM_017791,AC007182,CH471061,AF456126,AK000378,AK027804,AK297002,AY260572,AY260577,BC001448,BC019087,BC026295,CR739521,DA166212,NM_001195283 NP_060261,AAD51374,EAW81235,AAO15528,BAA91126,BAB55381,BAH12471,AAP86633,AAP86638,AAH19087,Q9UPI3,NP_001182212 Hs.726126,Hs.615289 C14orf58|CCT|EPV|FLJ20371|FLVCRL14q|MFSD7C|PVHH calcium-chelate transporter|feline leukemia virus subgroup C cellular receptor 2|feline leukemia virus subgroup C receptor-related protein 2|feline virus subgoup C receptor 2 protein-coding 1346259 FLYWCH1 FLYWCH-type zinc finger 1 15146197,14702039,12477932,11230166,10997877,8889548,16169070 84256 NM_032296,NM_020912,AC004034,AC004234,AC004235,CH471112,AB046772,AK026885,AK055777,AK057022,AK092434,AK127235,AL136585,BC001973,BC018712,BC028572,BU730169,CN359886 NP_115672,NP_065963,EAW85450,EAW85451,EAW85452,EAW85453,EAW85454,BAB13378,BAG51572,BAG51844,BAG52552,BAC86896,CAB66520,AAH01973,AAH18712,AAH28572,Q4VC44 Hs.655321 FLYWCH-type zinc finger-containing protein 1 protein-coding 1353802 FLYWCH1L FLYWCH-type zinc finger 1-like 497263 2923075 FLYWCH1P1 FLYWCH-type zinc finger 1 pseudogene 1 100130898 AC108734,NG_022230 pseudo 1602659 FLYWCH2 FLYWCH family member 2 12477932 114984 NM_138439,NM_001142500,NM_001142499,AC004234,CH471112,AL542248,BC014089,BG120460,BI825861,CA413438,CR601271,DB455461 NP_612448,NP_001135972,NP_001135971,EAW85455,AAH14089,Q96CP2,ADR82776 Hs.534525 FLYWCH family member 2|hypothetical protein bc014089 protein-coding 1606398 FMN1 formin 1 20610440,19096130,15202026,14647292,12477932,10631086,10199968,1673046,11604498,19605360,20023658,20200978,20379614,20540360 342184 M38684,NM_001103184,AC018515,AC019278,AC055874,AC090098,AC090877,AC090982,M38685,AI417633,AL833157,BC029107,BC103692,BC107593,CR749487,CR749577 NP_001096654,AAI03693,AAI07594,CAH18313,Q68DA7,AAI72380 Hs.657649,Hs.703339 DKFZp686C2281|DKFZp686G2387|FLJ45135|FMN|LD|MGC125288|MGC125289 formin (limb deformity)|formin-1|limb deformity protein homolog protein-coding 1345437 FMN2 formin 2 Formin homology (FH) domain proteins (e.g., FMN; MIM 136535) play a role in cytoskeletal organization and/or establishment of cell polarity.[supplied by OMIM] 1580863 19913121,20628086,19336575,16710414,15866570,15289902,12477932,12447394,10781961,20734064,17554300,19605360,19626040,19955471,20379614 56776 DN990332,NM_020066,AL359918,AL513342,AL590490,AL646016,CH471098,AB209153,AF218941,AF218942,AF225426,AK297716,AK297755,AK298141,BC014364,BC112335,BC112361,DB476003 Q2M1H5,Q96L17,Q9HBL1,Q9NZ56,NP_064450,CAQ10135,CAQ10136,CAQ10525,CAQ10526,CAQ10976,CAQ08405,EAW70082,BAD92390,AAF72884,AAF72885,AAG09728,BAG60071,BAH12659,BAG60417,AAH14364,AAI12336,AAI12362 Hs.24889 formin 2-like|formin-2 protein-coding 1322289 FMNL1 formin-like 1 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq] 1580863 20617518,18029348,19815554,17081983,15489334,15231748,14592423,12684686,12632087,12477932,10958683,9799091,9787083,16169070 752 AC008105,CH471178,AF432213,AJ008112,AJ008118,AJ008119,AK131091,AY278319,BC001710,BC009000,BC021906,BC042925,BC064572,BC073988,NM_005892,FJ534522,BC111564,CR456759,CR616114 NP_005883,EAW51534,EAW51535,EAW51536,EAW51537,EAW51538,AAL99920,CAA07870,BAC85141,AAP32476,AAH01710,AAH09000,AAH21906,AAH73988,ACR19333,AAI11565,CAG33040,O95466,Q6ZNK3 Hs.727588 C17orf1|C17orf1B|FHOD4|FMNL|KW-13|MGC133052|MGC1894|MGC21878 CLL-associated antigen KW-13|formin-like protein 1|leukocyte formin protein-coding 1315771 FMNL2 formin-like 2 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq] 19401682,18665374,15231748,14702039,12684686,12477932,10737800,1538749,11572484,20936779,20101212,20379614 114793 NM_052905,AC012066,AC012443,AC093794,CH471058,AB067489,AI261893,AI498522,AI870367,AI885827,AK094865,AK131316,AL834396,AW293867,AW341595,AW811241,BC014343,BC036492,BC113878,BC114438,BC167159,BQ067763,BU633028,CD105119,M78344 NP_443137,AAX88959,EAX11485,EAX11486,BAB67795,BAG52944,BAD18479,CAD39058,AAH14343,AAI13879,AAI14439,AAI67159,Q6ZN96,Q96CE5,Q96PY5,AAI67804 Hs.654630 FHOD2|FLJ37546 formin homology 2 domain containing 2|formin homology 2 domain-containing protein 2|formin-like protein 2 protein-coding 1606996 FMNL3 formin-like 3 The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq] 18029348,15231748,14702039,12684686,12477932,9171351 91010 NM_198900,NM_175736,AC020612,CH471111,AB095934,AK095874,AK127200,AK128195,AL162062,BC033181,BC090955,BC159100,BQ707902,CR596925 NP_944489,NP_783863,EAW58086,EAW58087,EAW58088,BAC23110,BAG54450,BAC87319,CAB82400,AAH33181,AAI59101,Q8IVF7,Q8N4Y7,AAI60099 Hs.179838 DKFZp762B245|FHOD3|FLJ45265|MGC45819|WBP-3|WBP3 WW domain binding protein 3|WW domain-binding protein 3|formin homology 2 domain-containing protein 3|formin-like protein 3 protein-coding 736452 FMO1 flavin containing monooxygenase 1 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq] 1580863 20734064,1712018,19336370,17127561,16710414,16531493,16183778,15489334,15203093,14702039,12829732,12642475,12527699,12477932,11809920,11725960,10950857,9094723,8486388,8311461,8128486,7720101,20529763,15144220,15987777,16863467,19552509,19898482,20056567 2326 NM_002021,AL021026,AL031274,AL445673,AY879266,CH471067,AK097039,AK290113,AK296198,AK315100,BC047129,CR619998,M64082 NP_002012,CAI22845,CAI22846,CAI21382,CAI21383,AAW56076,EAW90892,EAW90893,EAW90894,EAW90895,BAF82802,BAH12280,BAG37562,AAH47129,AAA52457,Q01740,ADR82682 Hs.1424 FMO 1|Flavin-containing monooxygenase 1 (fetal liver)|OTTHUMP00000033537|dimethylaniline monooxygenase [N-oxide-forming] 1|dimethylaniline oxidase 1|fetal hepatic flavin-containing monooxygenase 1 protein-coding 2303691 FMO10P flavin containing monooxygenase 10 pseudogene 15077013 100128181 NG_009811,AL356005,AL611962 pseudo 2881129 FMO11P flavin containing monooxygenase 11, pseudogene 15077013 100337590 AL008639,NG_016468 pseudo 733627 FMO2 flavin containing monooxygenase 2 (non-functional) The flavin-containing monooxygenases are NADPH-dependent enzymes that catalyze the oxidation of many drugs and xenobiotics. In most mammals, there is a flavin-containing monooxygenase that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, in humans, this enzyme is truncated and is probably rapidly degraded. The protein encoded by this gene represents the truncated form and apparently has no catalytic activity. A functional allele found in African Americans has been reported, but no sequence evidence has been deposited to support the finding. This gene is found in a cluster with the FMO1, FMO3, and FMO4 genes on chromosome 1. [provided by RefSeq] 1580863 9804831,18794725,16710414,15864117,15489334,15355885,14702039,12527699,12477932,11744609,11042094,8889548,8786146,8311461,8128486,7720101,1542660,1417778,20529763,15144220,19420133,19898482,20173083 2327 AK304385,AK312877,AL833218,BC005894,BT006979,CA312067,Y09267,NM_001460,AL021026,AY916056,CH471067,AI821378,AK098145 BAG65221,BAG35728,CAI46191,AAH05894,AAP35625,CAA70462,Q5JPC7,Q86U73,Q99518,ABM84459,ABM84674,NP_001451,CAA15910,AAW82431,EAW90889 Hs.144912 FLJ40826|FMO1B1 FMO 1B1|FMO 2|FMO, pulmonary|dimethylaniline monooxygenase [N-oxide-forming] 2|dimethylaniline oxidase 2|flavin containing monooxygenase 2|pulmonary flavin-containing monooxygenase 2 protein-coding 734270 FMO3 flavin containing monooxygenase 3 The mammalian flavin-containing monooxygenases (FMO; EC 1.14.13.8) represent a multigene family whose gene products are localized in the endoplasmic reticulum of many tissues. These enzymes catalyze the NADPH-dependent oxidative metabolism of many drugs, pesticides, and other foreign compounds. Their substrates are soft nucleophiles with an electron-rich center, typically a nitrogen, sulfur or phosphorus-containing functional group, as the site for oxidative attack by the enzyme (Ziegler, 1990 [PubMed 2203193]; Hines et al., 1994 [PubMed 8128486]).[supplied by OMIM] 1626466,1626461,1580863 8104117,8117928,9207220,19356079,19336370,19321370,18443301,18305374,18180394,17885620,17881660,17786630,17584019,17559352,17531949,17257434,17142560,17096187,16996766,16858129,16800822,16710414,16600650,16598836,16481213,16324215,16214918,16183778,15623613,15618753,15489334,15203093,12903042,12893987,12814961,12527699,12477932,11809920,11717182,11551524,11266081,11191884,10479479,10338091,9536088,9417913,9398858,9373149,8654418,8486388,8128486,8125298,7749747,7720103,7568243,5048998,4195988,2203193,1542660,20734064,21075259,20529763,20679960,16863467,19571433,19577495,19761368,19898482,20056567,20173083,20182906,20198379 1626466,1626461 2328 NM_001002294,NM_006894,AL021026,AY895830,CH471067,U39960,U39961,U39962,U39963,U39964,U39965,U39966,U39967,AI478384,AK223166,AK296105,AK298406,AK310785,AK313197,BC032016,M83772,Z47552,BM453951,NG_012690 ABM86569,NP_001002294,NP_008825,CAA15908,AAW65372,EAW90886,EAW90887,EAW90888,AAC51932,BAD96886,BAH12258,BAH12779,BAG36013,AAH32016,AAA86284,CAA87632,P31513,Q53FW5,ABM83355 Hs.445350 FMOII|MGC34400|TMAU|dJ127D3.1 FMO 3|FMO II|FMO form 2|dimethylaniline monooxygenase [N-oxide-forming] 3|dimethylaniline oxidase 3|flavin-containing monooxygenase 3|hepatic flavin-containing monooxygenase 3|hepatic flavin-containing monooxygenase-3 protein-coding 731768 FMO4 flavin containing monooxygenase 4 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq] 1580863 1417778,19307449,16710414,15489334,12527699,12477932,11551524,8702731,8311461,8128486,7720101,20529763,19898482 2329 NM_002022,AL031274,AY882422,CH471067,BC002780,BT007444,Z11737 NP_002013,CAB42008,AAW56938,EAW90896,EAW90897,AAH02780,AAP36112,CAA77797,P31512,ABM81610,ABM84792 Hs.386502 FMO2 FMO 4|dimethylaniline monooxygenase [N-oxide-forming] 4|dimethylaniline oxidase 4|hepatic flavin-containing monooxygenase 4 protein-coding 733168 FMO5 flavin containing monooxygenase 5 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1334486,1580863 8311461,8128486,8125298,7872795,7720101,16710414,16344560,16183778,14702039,12527699,12490590,12477932,11551524,11128045,9373149,9305407,9119381,8786146,19834535,19898482,20379614 1334486 2330 NM_001144829,NM_001144830,NM_001461,AL356378,AY902236,CH471223,AK022172,AK222728,AK225739,AK314647,BC020872,BC035687,DA354058,DB230162,L37080,Z47553 NP_001138301,NP_001138302,NP_001452,CAH72648,CAH72649,AAW69390,EAW50939,EAW50940,EAW50941,EAW50942,EAW50943,BAB13975,BAD96448,AAH35687,AAA67849,CAA87633,P49326,Q53H53,Q8IV22,Q9HA79,BAG37208 Hs.642706 FMO 5|dimethylaniline monooxygenase [N-oxide-forming] 5|dimethylaniline oxidase 5|flavin containing monooxygenase|hepatic flavin-containing monooxygenase 5 protein-coding 1603333 FMO6P flavin containing monooxygenase 6 pseudogene 19898482,16710414,15077013,12527699,12130684 388714 NR_002601,AL021026,AK130511 CAI19487 Hs.448988 FLJ27001|FMO6 pseudo 2881128 FMO7P flavin containing monooxygenase 7 pseudogene 15077013 100337589 AL583804,NG_016467 pseudo 2303673 FMO8P flavin containing monooxygenase 8 pseudogene 15077013 100129007 NG_009755,AL611962 pseudo 1605888 FMO9P flavin containing monooxygenase 9 pseudogene 12477932,15077013 116123 NR_002925,AL611962,BC014341 Hs.348539 MGC23941 pseudo 1353289 FMOD fibromodulin Fibromodulin is a member of a family of small interstitial proteoglycans, containing a central region composed of leucine-rich repeats with 4 keratan sulfate chains flanked by disulfide-bonded terminal domains. It may participate in the assembly of the extracellular matrix as it interacts with type I and type II collagen fibrils and inhibits fibrillogenesis in vitro. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. [provided by RefSeq] 1580863,2315073,2315079,2311412,2311416 8093006,19041686,19008226,18838168,18620607,18448071,17623650,17293598,16046396,15741214,15471955,14702039,12477932,11400162,11012890,9688269,9573366,8889548,8357838,7919526,7851907,19242838,19422643,19536175,19700767,19710942 2315073,2315079,2311412,2311416 2331 HH958029,NM_002023,AL359837,CH471067,X72913,AK092899,AK291632,AK303866,AL542756,BC035281,BQ188750,CR598810,CR599949,U05291,X75546 CBX51278,NP_002014,CAH73821,EAW91477,EAW91478,CAA51418,BAG52626,BAF84321,BAG64805,AAH35281,AAA16153,CAA53233,Q06828,Q12833,ABM83038,ABM86232 Hs.519168 SLRR2E FM|KSPG fibromodulin|collagen-binding 59 kDa protein|fibromodulin|fibromodulin proteoglycan|keratan sulfate proteoglycan fibromodulin protein-coding 735919 FMR1 fragile X mental retardation 1 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). [provided by RefSeq] 1601178,1580863,704404 7692601,10556305,16407062,10888599,12837692,8401578,19642041,19542082,19422761,19396385,19341325,19273535,19265746,19249802,19235102,19215057,19211207,19204162,19197218,19193898,19155329,19147914,19116286,19097999,19056494,19041959,19026394,19005212,18973899,18922172,18789568,18687789,18664458,18656952,18630123,18628788,18583885,18570292,18565783,18553360,18535897,18487560,18472033,18471319,18427356,18413472,18412117,18403614,18384784,18384775,18373410,18357616,18323308,18310677,18310361,18273822,18225979,18211155,18181681,18172867,18165971,18163424,18093976,18074381,18057320,18057083,16049924,16006558,15971024,15956167,15950084,15930016,15929093,15879417,15861180,15805463,15742217,15741991,15659577,15642922,15629215,15617547,15608041,15563507,15483640,15483045,15381419,15381024,15377638,15300658,15282548,15175277,15121898,15096575,15065016,15000256,14993603,14755444,14747503,14746957,14599277,14570712,12950170,12927206,12810982,12745094,12596051,12594214,12529854,12515381,12477932,16078053,16055059,12417734,12388589,12378270,12232854,12210320,12147688,12116303,12116230,12112763,12107447,11992259,11897823,11854169,11840495,20734064,20938029,20221430,20573435,17978095,16117724,11545690,17966892,17962727,17932962,17922850,17917121,17881655,17850748,17714511,17674408,17620491,17588953,17548778,17506288,17290448,17283214,17196195,17179750,17101793,17097142,17044853,16907702,16905681,16891414,16819831,16793928,16708166,16636078,16508954,16500891,16500716,16456258,16361284,16337617,16319129,16271017,16184602,16161415,11445641,11443541,11438699,11415517,11367701,11256870,11162447,11142761,11142760,11129329,11119302,10729312,10567518,10527928,10398250,9829913,9659908,9497258,9375856,9302998,8668200,8528261,8515814,8504300,8490650,8401531,8401496,8348153,8156595,8095365,8069329,7825604,7781595,7688265,7670500,7633450,7489725,7141005,2988332,1913811,1757956,1710175,1572655,15696166,20118148,20597902,20616364,20435064,20442204,20629912,20398889,19481741,19778484,20562859,15146197,19105204,19361583,19367323,19436069,19487368,19525339,19619908,19712568,19728537,19760650,19764037,19796183,19804849,19806593,19810826,19853235,19863547,19864489,19908235,19927162,20047076,20059484,20082462,20141036,20149747,20168238,20187721,20228389,20298211,20362512,20378415,20410144,20431035,20473314,20537351,8358432,8789445 1601178 2332 NG_007529,CH471171,L19476,L19477,L19478,L19479,L19480,L19481,L19482,L19483,L19484,L19485,L19486,L19487,L19488,L19489,L19492,L19493,L29074,S76590,AB209188,AK294104,AK302707,BC038998,BC086957,M67468,S65791,X69962,NM_002024,BQ213316,BQ287827,BQ417290,BX498094,CK825936,CN315330,CX871385,NM_001185075,NM_001185076,NM_001185081,NM_001185082,NR_033699,NR_033700 NP_002015,EAW61293,EAW61294,EAW61295,EAW61296,EAW61297,EAW61298,EAW61299,EAW61300,EAW61301,EAW61302,EAW61303,AAA62452,AAA62453,AAA62454,AAA62455,AAA62456,AAA62457,AAA62458,AAA62459,AAA62460,AAA62461,AAA62462,AAA62463,AAA62464,AAA62465,AAA62468,AAA62469,AAB18828,AAB18829,AAB18830,AAB18831,AAB18832,AAB18833,AAD14228,BAD92425,BAG57439,BAG63929,AAH38998,AAH86957,AAA52458,AAB28395,CAA49586,Q06787,Q59GC1,Q8IXW7,NP_001172004,NP_001172005,NP_001172010,NP_001172011 Hs.103183 FMRP|FRAXA|MGC87458|POF|POF1 OTTHUMP00000024200|OTTHUMP00000024201|fragile X mental retardation 1 protein|fragile x mental retardation syndrome 1 homolog|premature ovarian failure 1|protein FMR-1 protein-coding 4144950 FMR1AS FMR1 antisense RNA (non-protein coding) 17921506,18213394 100126270 EU048200,EU048201,EU048202,EU048203,EU048204,EU251065,EU251066,EU251067,EU251068,FJ887036,NR_024499,NR_024500,NR_024501,NR_024502,NR_024503 ABV80253,ABV80254,ABV80255,ABV80256,ABV80257 Hs.561999,Hs.724100 ASFMR1|FMR1-AS|FMR1AS|FMR4 miscrna 1346520 FMR1NB fragile X mental retardation 1 neighbor 737633 15489334,14702039,12601173,12477932,17207965 737633 158521 NG_016349,CH471171,AK098602,AY211917,BC034320,NM_152578 NP_689791,EAW61291,EAW61292,BAC05349,AAO65170,AAH34320,Q8N0W7,ADQ31608 Hs.128580 CT37|FLJ25736|NY-SAR-35|NYSAR35 cancer/testis antigen 37|fragile X mental retardation 1 neighbor protein|sarcoma antigen NY-SAR-35 protein-coding 1354505 FMR3 fragile X mental retardation associated 3 56247 736627 FN1 fibronectin 1 This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. [provided by RefSeq] 1601179,1580863,1358624,704404 9117345,9016396,8997243,8905624,8756760,8599839,8548820,8468356,8449034,8308892,8168508,8120888,8120056,8063866,7963647,7690138,7583666,7559467,7519849,7499434,7493623,7050098,6981115,6693419,6688418,6630202,6462919,6304699,6200322,6092370,4019516,3997552,3988746,3943369,3900070,3770201,3770189,3593230,3478690,3375063,3031656,11342427,11311202,11285216,11285119,11276204,11157741,11149921,11134254,11023498,11010812,10848816,10783396,10772816,10647176,10470109,10470078,10464263,10196121,9837825,9733622,9651579,9636140,9626063,9514732,9501082,9361795,9339851,9334230,9211865,9169408,20489157,20600851,20819642,16463680,20357207,20505078,19760097,19821053,20686611,19847669,20552237,20628340,20671107,20851879,20725648,21036738,3024962,10075919,1423622,3997886,7989369,16236823,15308636,444675,14718574,19616291,19564406,19404402,19345424,19251642,19224684,19161998,19160003,19094228,19037100,19020673,18958156,18957516,18829569,18824166,18810851,18801363,18776591,18716775,18713862,18690341,18633626,18577581,18499669,18474427,18451144,18451110,18348696,18343220,18340378,18332212,18313373,18268355,18083324,18064631,18042364,18006840,17949711,17929131,17879163,17704536,17636193,17596138,17554369,17526550,17512904,17490871,17468934,17425334,17416372,17273763,17266699,17237224,17187346,17136547,17081983,17027088,17015452,17003032,16986166,16984808,16982604,16978691,16928957,16882662,16839338,16757476,16621928,16495290,16378831,16375583,16336961,16335952,16322219,16277979,16159961,16150826,16106752,15456743,15456495,15384859,15331608,15265957,15247227,15231748,15213410,15161923,14760718,14737076,14709558,14702039,14695199,14662883,14645245,14602715,14558920,12917446,12902636,12810082,12802498,12761244,12736686,12631068,12621118,12538576,12538453,12535082,12527107,12497612,12486316,12477932,12468382,12401883,12388756,12270980,12225811,12225805,12180907,12149247,12127832,12105189,12100475,12091360,12069579,12034705,11981027,11960984,11956183,16091757,16083879,16055535,15961545,15912204,15890670,15855153,15799029,15721303,15717924,15699160,15652337,15645125,15609325,15485890,15467744,11937267,11928812,11891225,11867643,11867580,11864705,11847210,11832485,11829448,11801679,11801638,11795204,11775745,11773026,11768240,11752017,11751853,11737888,11686302,11605051,11500098,11423128,11419941,11344214,3021206,3003095,2992939,2992573,2989004,2867902,2822387,2745554,2531657,2414772,2229073,2012601,1694173,1532572,1468447,1409674,1400330,1372909,1311202,9443108,1875953,8173552,10706716,8952048,12119179,8997639,1959621,11180285,10451539,18276110,8360181,7500359,12127836,11493006,1730778,15331737,8663002,2138612,11423542,8798654,12119020,15806100,10823831,19913121,20403349,20506163,20628086,20628624,20672350,20673868,17459242,19903114,20029029,20161770,20232238,20470202,20364278,20811396,20530259,20643357,11997396,15165854,16005629,1632457,16581250,16933105,18334936,19212764,19342448,19391127,19417080,19460753,19541353,19542224,19553700,19581300,19617627,19701604,19701759,19730683,19834535,19880379,19893454,19914350,19935699,20007695,20043904,20097172,20097751,20145126,20210243,20452482,20463177 1601179,1358624 2335 BX538017,BX538018,BX538045,BX640608,BX640638,BX640731,BX640802,BX640803,BX640875,BX640920,BX640999,BX641150,BX649182,CR593359,CR598146,CR601543,CR602860,CR606847,CR611619,CR749281,CR749316,CR749317,CR749666,CR936623,EF550130,EF550131,EF550132,EF550133,EF550134,EF550135,M10905,M14059,M14060,M27589,M27590,U41724,U41850,U42404,U42455,U42456,U42457,U42458,U42592,U42593,U42594,U60067,U60068,X02761,BX537590,NM_212474,NM_002026,NM_212478,NM_212482,NM_054034,NG_012196,AC012462,AC073284,CH471063,M12549,M15801,M18179,X07717,X07718,AB191261,AB209287,AB209840,AF130095,AF312399,NM_212476,AI033037,AJ276395,AJ320525,AJ320526,AJ320527,AJ535086,AK026737,AK094153,AK297733,AK300216,AK300246,AK300458,AK316350,AL832202,AL832771,BC005858,BC016875,BC078656,BC100030,BC117176,BC143754,BC143763,BQ005645,BT006856,AJ849445 CAD97791,CAD97964,CAD97965,CAD97984,CAE45714,CAE45786,CAE45847,CAE45885,CAE45932,CAE45958,CAE46002,CAE46200,CAH18136,CAH18171,CAH18172,CAH18457,CAI56766,ABR68534,ABR68535,ABR68536,ABR68537,ABR68538,ABR68539,AAA52462,AAA52463,AAA52464,AAA52465,AAA52466,AAD00013,AAD00014,AAD00015,AAD09448,AAD09449,AAD04751,AAD09450,AAD00017,AAD00018,AAD00019,AAD11500,AAD10853,CAA26536,O95608,O95617,P02751,Q14327,Q14328,Q53S27,NP_997641,NP_997639,NP_002017,NP_997643,NP_997647,NP_473375,AAX76513,AAY24063,EAW70530,EAW70531,EAW70532,EAW70533,EAW70534,EAW70535,EAW70536,EAW70537,EAW70538,EAW70539,EAW70540,EAW70541,EAW70542,EAW70543,EAW70544,EAW70545,EAW70546,EAW70547,EAW70548,AAA58483,AAA53376,AAA52461,CAB52437,CAB52436,BAD52437,BAD92524,BAD93077,AAG35520,CAC20427,CAC86914,CAC86915,CAC86916,CAD59389,BAG60083,BAG61984,BAG62013,BAG62178,BAH14721,CAD91166,AAH05858,AAH16875,AAI17177,AAI43755,AAI43764,AAP35502,AAG30571,Q564H7,Q59G22,Q5CZ99,Q68CX6,Q6MZF4,Q6MZM7,Q6N084,Q6PJE5,Q7L553,Q7Z391,Q9H382,Q9UQS6,CAH60958,ACE87377,ACE86693 Hs.203717 CIG|DKFZp686F10164|DKFZp686H0342|DKFZp686I1370|DKFZp686O13149|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF OTTHUMP00000206760|OTTHUMP00000206762|OTTHUMP00000206763|OTTHUMP00000206767|cold-insoluble globulin|fibronectin|migration-stimulating factor protein-coding 1350348 FN3K fructosamine 3 kinase FN3K catalyzes phosphorylation of fructosamines formed by glycation, the nonenzymatic reaction of glucose with primary amines followed by Amadori rearrangement. Phosphorylation of fructosamines may initiate metabolism of the modified amine and result in deglycation of glycated proteins (Delpierre et al., 2000 [PubMed 11016445]).[supplied by OMIM] 1580863 11016445,16920277,16523184,16037310,15489334,15381090,15331600,15102834,14702039,14641062,12477932,11975663,11522682,19834870,20858683 64122 NM_022158,AC024361,CH471099,AJ404615,AK054838,AK294871,BC042680,CR625457 NP_071441,EAW89819,EAW89820,CAC16393,BAG51431,BAG57973,AAH42680,Q9H479 Hs.151135 fructosamine-3-kinase protein-coding 1606224 FN3KRP fructosamine 3 kinase related protein FN3KRP and FN3K (MIM 608425) protect proteins from nonenzymatic glycation by phosphorylating the modified amino acid. This phosphorylation destabilizes the sugar-amine linkage and leads to spontaneous decomposition (Conner et al., 2004 [PubMed 15381090]).[supplied by OMIM] 18637789,17686456,16920277,16344560,16037310,15489334,15381090,15137908,14702039,14633848,12477932,11230166,17207965,20858683,19615732 79672 DA019669,NM_024619,AC024361,CH471099,AK022233,AK293523,AK301958,AK315373,AL136631,AY360465,BC001458,BC007611,BC014408,CR533461,CR590234,CR590236,CR590420,CR592111,CR601595,CR608301,CR615772,CR617786,CR618775 Q6FIG5,Q9HA64,ADQ32662,NP_078895,EAW89817,EAW89818,BAB13992,BAG57005,BAG63372,BAG37766,CAB66566,AAQ72344,AAH01458,AAH07611,AAH14408,CAG38492 Hs.31431 FLJ12171|FN3KL FN3K-RP|FN3K-related protein|fructosamine-3-kinase-related protein|ketosamine-3-kinase protein-coding 1350700 FNBP1 formin binding protein 1 The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq] 15252009,19155218,18923421,17512409,16964243,16630611,16418535,16326391,16318909,16193335,15592455,15489334,15302935,15164053,15144186,15047863,14702039,14596906,12736724,12477932,12244061,12023017,11438682,11431473,9628581,20729836,20562859,12421766,14502124,14732713,19041431,20379614 23048 NM_015033,AL136141,AL158207,AL832949,CH471090,AB011126,AF265550,AK000975,AK001616,AK023681,AK090963,AK293743,AL049935,AW575478,AY952886,BC009262,BC018159,BC062463,BC101755,BC143513,BC143514,BC143515,CK005680,CR616499 NP_055848,CAI12148,CAI12149,CAI12150,CAI13909,CAI13910,CAI13911,EAW87916,EAW87917,EAW87918,EAW87919,BAA25480,AAK49824,BAA91451,BAB14638,BAG57166,AAH62463,AAI01756,AAI43514,AAI43515,AAI43516,Q96RU3 Hs.189409 FBP17|KIAA0554|MGC126804 OTTHUMP00000022353|OTTHUMP00000022354|OTTHUMP00000022355|formin-binding protein 1|formin-binding protein 17|hFBP17 protein-coding 1346897 FNBP1L formin binding protein 1-like The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 20730103,19342671,19213734,18191793,16885158,16757518,16710414,16630611,16418535,16326391,16169070,15489334,15260990,14702039,12477932,14654988,16344560,20379614 54874 BC074891,BC074892,BX476921,CR612845,NM_001024948,NM_017737,NM_001164473,AC095034,AL109613,AL512651,AX058596,CH471097,AK000282,AK025526,AK026988,AK296767,AK299760,AK299943,AK315981,AY514449,BC062477,DB219295,DW423801 AAH74891,AAH74892,Q5T0N5,AAH62477,NP_001020119,NP_060207,NP_001157945,CAI18952,CAI18953,CAI18954,CAI18979,CAI18980,CAI18981,CAC22513,EAW73069,EAW73070,EAW73071,BAA91051,BAG59347,BAG61649,BAG61773,BAH14352,AAR98814 Hs.726017 C1orf39|TOCA1 OTTHUMP00000012573|OTTHUMP00000012574|formin-binding protein 1-like|toca-1|transducer of Cdc42-dependent actin assembly 1|transducer of Cdc42-dependent actin assembly protein 1 protein-coding 1319467 FNBP4 formin binding protein 4 15302935,15231748,15146197,14702039,12477932,12421765,11292345,10748127,10744724,10231032,11604498 23360 NM_015308,AC021443,CH471064,AB023231,AK022987,AK054636,AK095093,AK123898,AL137480,BC006557,BC037404,BX537864,CR620614,DB458472 NP_056123,EAW67884,EAW67885,EAW67886,EAW67887,EAW67888,BAA76858,BAB14348,BAG51402,CAB70761,AAH37404,CAD97867,Q7Z666,Q8N3X1,ACE87524,ACE86837 Hs.6834 DKFZp686M14102|DKFZp779I1064|FBP30|FLJ41904|KIAA1014 formin-binding protein 30|formin-binding protein 4 protein-coding 1352740 FND frontonasal dysplasia 2336 1321663 FNDC1 fibronectin type III domain containing 1 16098131,14657397,12477932,11347906,9704633,20379614 84624 NM_032532,AL355492,AL356417,AL590551,CH471051,AB058769,AJ586132,AK127635,AL832410,BC146783,BC150607,DQ009660 NP_115921,EAW47634,BAB47495,CAE51894,BAG54537,CAI46178,AAI46784,AAI50608,AAY26234,Q4ZHG4,CAX14843,CAX14959 Hs.520525 AGS8|FNDC2|KIAA1866|MEL4B3|RP11-243O10.2|bA243O10.1|dJ322A24.1 OTTHUMP00000207496|activation-associated cDNA protein|expressed in synovial lining protein|fibronectin type III domain containing 2|fibronectin type III domain-containing protein 1 protein-coding 1352769 FNDC2 fibronectin type III domain containing 2 387083 1354235 FNDC3A fibronectin type III domain containing 3A 18029348,18218838,17081983,15489334,15057823,14702039,12477932,12168954,10231032,8889548 22862 NM_001079673,NM_014923,AL137000,AL161421,AL359184,CH471075,AB023187,AJ749706,AJ749707,AK001140,AK056071,AK172814,AK302415,BC036010,BC051029,BC060816,BC070072,BC107793,BC132812,BC136617,BC144301,BM973827,BX640739,BX648141,BX648706 NP_001073141,NP_055738,CAI39726,CAI39727,CAH70653,CAH73933,EAX08803,EAX08804,EAX08805,EAX08806,EAX08807,EAX08808,EAX08809,EAX08810,BAA76814,CAG44602,CAG44603,BAD18784,BAG63723,AAH60816,AAH70072,AAI32813,AAI36618,AAI44302,CAE45852,CAI45989,Q9Y2H6 Hs.508010 FLJ31509|FNDC3|HUGO|KIAA0970|RP11-203I16.5|bA203I16.1|bA203I16.5 OTTHUMP00000214999|OTTHUMP00000215000|fibronectin type-III domain-containing protein 3A|human gene expressed in odontoblasts protein-coding 1343110 FNDC3B fibronectin type III domain containing 3B 737633 19472311,16303743,15527760,14702039,12975309,12477932,9373149,8125298,18029348,20237496,20379614 737633 64778 NM_022763,NM_001135095,AC069259,AC069523,AC092964,AC108668,CH471052,AB098597,AF543840,AI417065,AK027052,AK075220,AK092465,AK127826,AK223599,AK314478,AL157482,AY358146,AY358367,BC012204,BC026005,BC033635,BC039297,BX648340,BX648415 NP_073600,NP_001128567,EAW78470,EAW78471,EAW78472,EAW78473,EAW78474,EAW78475,EAW78476,EAW78477,BAC53727,AAN65261,BAB15639,BAC11480,BAG54580,BAD97319,BAG37083,CAB75672,AAQ88513,AAQ88733,AAH12204,AAH33635,AAH39297,Q53EP0 Hs.159430 DKFZp686D14170|DKFZp762K137|FAD104|FLJ23399|MGC10002|PRO4979|YVTM2421 HCV NS5A-binding protein 37|factor for adipocyte differentiation 104|fibronectin type III domain-containing protein 3B protein-coding 4889207 FNDC3CP fibronectin type III domain containing 3C, pseudogene 100421340 AL049589,NG_026723 pseudo 1345842 FNDC4 fibronectin type III domain containing 4 15815621,15489334,14702039,12975309,12477932,12384288,19913121,20628086,20383146,20705733 64838 NM_022823,AC074117,CH471053,AK026015,AY358136,BC024175,BC032725,CR594178,CR597122,CR599669,CR605204,CR606989,CR618216,CR620289,CR625278,DB452792 NP_073734,AAY14849,EAX00569,EAX00570,BAB15321,AAQ88503,AAH32725,Q9H6D8,ABM84948,ABW03632 Hs.27836,Hs.707362 FLJ22362|FRCP1 fibronectin type III domain-containing protein 4|fibronectin type III repeat-containing protein 1 protein-coding 1348160 FNDC5 fibronectin type III domain containing 5 14702039,12477932,12384288,11591653,16344560 252995 NM_153756,AC114493,CH471059,AK092102,BC007548,BC033123,BC062297,BX537781,BE502835,DA393478,NM_001171940,NM_001171941 NP_715637,EAX07499,EAX07500,EAX07501,EAX07502,BAC03806,AAH62297,CAD97840,Q8NAU1,NP_001165411,NP_001165412 Hs.524234 FRCP2 fibronectin type III domain-containing protein 5|fibronectin type III repeat-containing protein 2 protein-coding 1604516 FNDC7 fibronectin type III domain containing 7 14702039,12477932 163479 NM_001144937,AL591719,CH471122,AK093157,BC057762,BC130421,BC144218 NP_001138409,CAH72065,EAW56329,BAC04077,AAH57762,AAI30422,Q5VTL7 Hs.258253 FLJ35838|MGC163293|RP11-293A10.2 OTTHUMP00000012822|fibronectin type III domain-containing protein 7 protein-coding 1603304 FNDC8 fibronectin type III domain containing 8 12477932,9373149 54752 NM_017559,AC022916,CH471147,AK225743,AK313775,AL133054,BC024002,BI829497,HC006912 NP_060029,EAW80168,BAG36513,CAB61380,AAH24002,Q8TC99,ACE87200,ACE86521,CBH19261 Hs.120369 DKFZp434H2215 fibronectin type III domain-containing protein 8 protein-coding 1606476 FNIP1 folliculin interacting protein 1 18804346,17028174,12477932,11853319,20562859 96459 NM_001008738,NM_133372,AC005593,AC008695,CH471062,AB075841,AK126675,AK292473,AL832008,AL834127,BC001956,CR749426,CR936723,DQ145719 NP_001008738,NP_588613,EAW62364,BAB85547,BAG54356,BAF85162,CAD91145,AAH01956,CAH18264,AAZ65854,Q68DF6,Q8TF40,AAI56496,AAI72496 Hs.591273 DKFZp686E18167|DKFZp781P0215|KIAA1961|MGC667 OTTHUMP00000222531|OTTHUMP00000222534|OTTHUMP00000222535|folliculin-interacting protein 1 protein-coding 2292121 FNIP2 folliculin interacting protein 2 18403135,14702039,12477932,10819331,20379614 57600 NM_020840,AC093700,AC107219,AC109823,CH471056,AB040883,AK022968,AK057981,AL713802,BC007861,BC016638,BC030251,BC047069,BU753084,DB482145 NP_065891,EAX04852,BAA95974,BAB14338,AAH07861,AAH16638,Q9P278,AAI66693 Hs.652441,Hs.725199 FNIPL|KIAA1450|MAPO1 FNIP1-like protein|OTTHUMP00000221326|folliculin-interacting protein 2 protein-coding 1348472 FNL1 fibronectin-like 1 3943369 2337 1352514 FNRBL fibronectin receptor, beta polypeptide-like 1979054,1979054 2338,100422691 AC022149,NG_024150 FNRBL|ITGB1L pseudo 730816 FNTA farnesyltransferase, CAAX box, alpha Prenyltransferases attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of protein's with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 15170324,17353931,8276393,8494894,8106351,8599089,11313965,19228685,17192483,15489334,15451670,14702039,12825937,12477932,12374986,12036349,11687658,11598000,10852915,10747914,10676968,8910345,8889548,8830800,8530343,8419339,8175923,7713879,2217184,1400319,19841875,20403997 2339 AAB26814 NM_002027,AC110275,AC113191,CH471080,AB209689,AK091717,AK123002,AK292121,AL698961,BC017029,BC037295,BC084566,BI913631,BM686906,BT009854,BX648381,CR590542,CR593901,CR596177,CR597451,CR598730,CR602767,CR604891,CR609319,CR612397,CR613348,CR614887,CR616712,CR619362,CR619812,CR621802,CR624553,L00634,L10413,NR_033698 NP_002018,EAW63188,EAW63189,EAW63190,EAW63191,EAW63192,BAD92926,BAG53844,BAF84810,AAH17029,AAH84566,AAP88856,AAA35853,AAA86285,AAB26814,P49354,Q59EX2 Hs.370312 FPTA|MGC99680|PGGT1A|PTAR2 FTase-alpha|GGTase-I-alpha|farnesyl-protein transferase alpha-subunit|protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha|protein prenyltransferase alpha subunit repeat containing 2|ras proteins prenyltransferase subunit alpha|type I protein geranyl-geranyltransferase alpha subunit protein-coding 1350008 FNTAL1 farnesyltransferase, CAAX box, alpha-like 1 12956414,8276393 283226 NG_005139,AP003097 FNTAL1 pseudo 1348177 FNTAL2 farnesyltransferase, CAAX box, alpha-like 2 12956414,8276393 2341 NG_005138,AL138680 FNTAL2 pseudo 736901 FNTB farnesyltransferase, CAAX box, beta 1580863 15170324,17353931,8276393,8494894,16344560,15592455,15489334,14702039,12825937,12477932,12374986,12036349,11751396,11687658,11598000,10852915,10747914,10676968,9657673,9373149,8910345,8830800,8599089,8175923,8125298,2217184,15451670,19228685,19841875,19862010 2342 AAB26815 L00635,L10414,NM_002028,AL139022,CH471061,AK093298,AK225917,AK295972,AK296850,AK303739,AK315714,AU122768,BC013574,BC020232,BM990350,BX248269,CR609252,CR618315,CR622524 AAA35854,AAA86286,AAB26815,P49356,Q86TX8,ABM83054,ABM86247,NP_002019,EAW80897,BAG52684,BAG58748,BAG59416,BAG64712,BAG38073,AAH20232,CAD62597 Hs.632345 FPTB|MGC31935 CAAX farnesyltransferase subunit beta|FTase-beta|farnesyltransferase beta subunit|protein farnesyltransferase subunit beta|ras proteins prenyltransferase subunit beta protein-coding 1347225 FNTBL1 farnesyltransferase, CAAX box, beta-like 1 8276393 2343 734060 FOLH1 folate hydrolase (prostate-specific membrane antigen) 1 This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq] 728645,737756,1580863 20852008,20624932,19161160,9375657,8417812,19427504,19403271,19394322,19343734,19301871,19242540,19172696,12210356,12204797,12042430,11102961,11092759,10085079,9882712,9838072,9816319,9809977,9694964,9691167,9622670,9187245,8595888,8570628,7882349,7665226,7511053,19107881,19060911,19053759,19048631,18974153,18844933,18842806,18839017,18823966,18635682,18626508,18609071,18590621,18427977,18349274,18344976,18249021,18234225,18076021,18029348,17935484,17714508,17689503,17684227,17208363,17150306,17032155,16713605,16522921,16496414,16467855,16221666,15840561,15837926,15713827,15705868,15389976,15321811,15206943,15152093,15141017,15122597,14716746,14632302,14571414,14528023,13678295,12949938,12949815,12855225,12850144,12754519,12753319,12712410,12707400,12514270,12477932,12474535,19913121,20452657,20628086,20634891,18534872,18639471,19678840,19706844,19716160,19776634,19936946,20047525,20379614,20458436 728645,737756 2346 NM_001193471,NM_001193472,NM_001193473,CS484648,CS487206,CS487327,NM_001014986,NM_004476,AC110742,AC118273,AF007544,AF107214,AY324625,CH471064,AF176574,AF254357,AF254358,AJ007318,AK295368,AK295470,AK300532,AK312366,AY101595,BC025672,BC108719,CR619031,DQ088979,EF488811,EF488812,M99487,S76978 EAW67858,NP_001180400,NP_001180401,NP_001180402,CAM36419,CAM55906,CAM55926,NP_001014986,NP_004467,AAC83972,AAF31167,AAP86290,EAW67861,AAD51121,AAF71357,AAF71358,BAH12048,BAH12079,BAH13299,BAG35284,AAM34479,AAH25672,AAI08720,AAZ66619,ABO93402,ABO93403,AAA60209,AAB33750,Q04609,Q2VPJ0,Q7Z5D2,ABM82093,ABM85275 Hs.654487 FGCP|FOLH|GCP2|GCPII|NAALAD1|NAALAdase|PSM|PSMA|mGCP N-acetylated alpha-linked acidic dipeptidase 1|N-acetylated-alpha-linked acidic dipeptidase I|NAALADase I|cell growth-inhibiting gene 27 protein|cell growth-inhibiting protein 27|folate hydrolase|folate hydrolase 1|folylpoly-gamma-glutamate carboxypeptidase|glutamate carboxylase II|glutamate carboxypeptidase 2|glutamate carboxypeptidase II|membrane glutamate carboxypeptidase|prostate specific membrane antigen variant F|prostate-specific membrane antigen|pteroylpoly-gamma-glutamate carboxypeptidase protein-coding 1601813 FOLH1B folate hydrolase 1B 14716746,9838072,17160644,19243386,19678840,8417812,9691167 219595 NM_153696,AP003122,AF261715,AY544126,U93598,U93599 AAT11157,Q9HBA9,AAI56241,AAI57014,NP_710163,AAG29102 Hs.645352 FOLH2|FOLHP|GCP3|GCPIII|PSM|PSMA-LIKE|PSMAL N-acetylated-alpha-linked-acidic dipeptidase|NAALADase|cell growth-inhibiting gene 26 protein|folate hydrolase 2|folate hydrolase pseudogene|glutamate carboxypeptidase III|prostate-specific membrane antigen-like protein|putative N-acetylated-alpha-linked acidic dipeptidase|putative folate hydrolase 1B protein-coding 1354156 FOLH2 folate hydrolase 2 9691167,8417812 2344 NG_003258,AP003122,U93598,U93599 FOLHP|PSM pseudo 1346305 FOLR1 folate receptor 1 (adult) The protein encoded by this gene is a member of the folate receptor (FOLR) family. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene is composed of 7 exons; exons 1 through 4 encode the 5' UTR and exons 4 through 7 encode the open reading frame. Due to the presence of 2 promoters, multiple transcription start sites, and alternative splicing of exons, several transcript variants are derived from this gene. These variants differ in the lengths of 5' and 3' UTR, but they encode an identical amino acid sequence. [provided by RefSeq] 1580863 20817090,9373149,9063895,8125298,8061055,7632694,7578066,3476960,3194438,2538429,2527252,2166548,1717147,1581364,1330883,1840502,10633085,9545095,2768245,19493349,19336370,19161160,19159907,19093297,19074442,19048631,18988749,18588513,18181001,17912458,17554378,17487842,17473184,17035141,16602701,16475900,16453285,16128986,15754024,15489334,15340044,14972645,14517339,12839949,12612090,12516786,12477932,19324355,11925593,10025672,20628086,20634891,19913121,20683905,19446551,19454358,19493312,19585555,19617914,19732866,19952865,20036773,20037791,20379614,20424473,8889548 2348 NM_016725,NM_016724,NM_000802,NM_016729,AP000812,CH471076,U20391,AF000381,AK223527,BC002947,BT007158,CR542019,CR607460,CR613077,CR623060,J05013,M25317,M28099,M35069,S73474,S73490,U78793,U78794,X62753,CA450368,NG_015863 NP_057937,NP_057936,NP_000793,NP_057941,EAW74848,EAW74849,EAW74850,EAW74851,EAW74852,AAB05827,AAB81938,BAD97247,AAH02947,AAP35822,CAG46816,AAA35823,AAA74896,AAA35822,AAA35824,AAB31702,AAB31700,AAB39751,AAB39752,CAA44610,O14597,P15328,Q6LDL1,Q96QD1,Q9NP04,ABM83670,ABM86943 Hs.73769 FBP|FOLR|FR-alpha|MOv18 FR-alpha|KB cells FBP|adult folate-binding protein|folate binding protein|folate receptor alpha|folate receptor, adult|ovarian tumor-associated antigen MOv18 protein-coding 1349897 FOLR1P folate receptor 1 (adult) pseudogene 2538429,1581364,1330883 390221 NG_005088,AP000812,M86438,NG_024530 FOLR1P|KB-1 pseudo 1318329 FOLR2 folate receptor 2 (fetal) The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] 1540379,1580863 2605182,19493349,19161160,19048631,17035141,16368877,16341674,15028279,12809644,12543860,12477932,10446858,9398177,9373149,8889548,8445646,8125298,8110752,8106441,7698003,7578066,2561247,2166548,1330883,19913121,20628086,20634891,20683905,19951991,20424473 1540379 2350 NM_001113535,NM_000803,NM_001113534,NM_001113536,AP000593,CH471076,U02714,X69516,AK222539,AK222643,BC027894,BC058036,BC115366,BM691283,BM849995,BY797003,CD014063,CD692073 AAH58036,NP_000794,NP_001107007,NP_001107006,NP_001107008,EAW74853,AAA17370,CAA49267,BAD96259,BAD96363,AAH27894,AAI15367,A0AUM2,O14596,P14207,Q05CA5,Q53HP1,Q6GTE8,ACE87162,ACE86481,ACE87743,ACE87062 Hs.433159 BETA-HFR|FBP/PL-1|FR-BETA|FR-P3 FBP|folate receptor beta|folate receptor, beta|folate receptor, fetal/placental|folate-binding protein, fetal/placental|placental folate-binding protein protein-coding 1345317 FOLR2L folate receptor 2 (fetal) like 2351 1346148 FOLR3 folate receptor 3 (gamma) This gene encodes a member of the folate receptor (FOLR) family, members of which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene includes two polymorphic variants; the shorter one has two base deletion in the CDS, resulting in a truncated polypeptide, compared to the longer one. Both protein products are constitutively secreted in hematopoietic tissues and are potential serum marker for certain hematopoietic malignancies. The longer protein has a 71% and 79% sequence homology with the FOLR1 and FOLR2 proteins, respectively. [provided by RefSeq] 1580863 9547271,8110752,19161160,19048631,14759258,12477932,7727426,20634891,20683905 2352 BC126398,U08470,U08471,Z32564,Z32633,BC030285,NM_000804,AF100161,AP000812,CH471076 AAH30285,AAA18381,AAA18382,CAA83553,CAA83566,P41439,Q05C14,AAI41506,AAI48786,NP_000795,AAC98303,EAW74843,EAW74844,EAW74845 Hs.352 FR-G|FR-gamma|gamma-hFR folate receptor gamma protein-coding 2881162 FOLR3P1 folate receptor 3 (gamma) pseudogene 1 100288543 AP000812,NG_022959 pseudo 2303851 FOLR4 folate receptor 4 (delta) homolog (mouse) 11111049 390243 NM_001080486,AP002784,NM_001199206 A6ND01,NP_001073955,NP_001186135 Hs.553758 Folbp3 FR-delta|probable folate receptor delta protein-coding 735729 FOS FBJ murine osteosarcoma viral oncogene homolog The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq] 2293757,2293779,2293780,2293777,1580863,704404 18425349,18405916,18368600,18316037,18309110,18305042,18283312,18252863,18206243,18158562,18032824,17926144,17915561,17888430,17703412,17681951,17639289,17636030,17606925,17549045,17495958,17235455,17209045,17203973,17182779,17160021,17018293,16828227,16637060,16552729,16236267,16219292,16123044,16055710,16049073,16038047,15926923,15921770,15767669,15708845,15654976,15588513,15548518,15530430,20682178,19105933,20463008,15276183,20203690,20209053,9732876,10918580,9888853,17217916,9443941,18029348,19513521,19453261,19329434,19299513,19269029,19258923,19215067,19151755,19135542,19028685,19022561,19015316,19009649,18986987,18957410,18923650,18854825,18838675,18826606,18802113,18725194,18676680,18653705,18644870,18641127,18621151,18599327,18597608,18500346,18467434,15507668,15489334,15262961,15188457,14966901,14741347,14727154,14702039,14629301,14522952,14517309,14511403,12972619,12949493,12788789,12705898,12692226,12687275,12600988,12592382,12547826,12508121,12477932,12446585,12445807,12193410,12183893,12147741,12127989,12082260,12052862,11983170,11909859,11891317,11846562,11641401,11397816,11397794,11278640,11260070,11134330,11053448,10799874,10777532,10764760,10523647,10497212,10488148,9918847,9792677,9685505,9681824,9671405,9642216,9510247,9468519,9346889,9334186,9207128,9129988,9121455,9057648,8971979,8904195,8763994,8737385,8710853,8628277,8570175,8557686,8475068,8397339,8248197,8108109,8065335,7994752,7962462,7816602,7816143,7713192,7685215,7665092,7540136,6574479,3817017,3555978,3027573,2516827,2511004,2414012,1903538,1828107,1658710,1631061,1589769,1545828,1406655,10581001,10027715,16001969,7642615,8621941,7957556,15258149,16690925,16243842,12419805,10388555,8480425,8151786,1827203,11274169,10847592,10330159,9488446,9872330,9160889,8440710,8380166,11782371,16023595,15950906,9130707,8816798,8816797,15610731,15175153,19913121,20531301,20628086,20628624,10567391,11431474,15844599,15867431,16452503,16511568,17080554,19170196,19199093,19384981,19495976,19557575,19581295,19625176,19692168,19714312,19795350,19859790,19874574,19921846,19937979,19959471,20089855,20468064,20493519,20503287,7623830,16714286,17226766,20936779 2293757,2293779,2293780,2293777 2353 AB022275,AB022276,AF111167,AY212879,CH471061,K00650,V01512,AK097379,AK290907,AK291326,AK298659,BC004490,BX647104,CR541785,CR542267,CR612516,CR620080,NM_005252,HI574162 NP_005243,BAA87920,BAA87921,AAC98315,AAO21129,EAW81227,EAW81228,EAW81229,AAA52471,CAA24756,BAG53458,BAF83596,BAF84015,BAG60827,AAH04490,CAG46584,CAG47063,P01100,Q6FG41,Q76MY9,Q76MZ0,ABM84370,ABM87749,CBX47570 Hs.25647 AP-1|C-FOS FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS)|G0/G1 switch regulatory protein 7|activator protein 1|cellular oncogene c-fos|cellular oncogene fos|proto-oncogene c-Fos|v-fos FBJ murine osteosarcoma viral oncogene homolog protein-coding 1317837 FOSB FBJ murine osteosarcoma viral oncogene homolog B The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20813842,10942775,1900040,8706134,19453261,19133651,18977241,18802113,18491952,18490653,18207134,17601350,17495958,16344560,15926923,15489334,14741347,12618758,12602926,12477932,12371906,10220381,9373149,8985116,8125298,1903195,1702972,1301997,19381435,19795327,20571966 2354 NM_001114171,AC138128,AY898963,CH471126,AK225070,AK292720,BC036724,BC040197,BC063042,BC127825,BX538117,CR542101,DA589470,DB275824,EU178109,EU178110,EU178111,EU178112,EU178113,EU178114,EU178115,EU178116,L49169,NM_006732,HI574258 ACE87447,ACE86760,NP_006723,NP_001107643,AAW65374,EAW57351,EAW57352,BAF85409,AAH36724,AAH40197,AAI27826,CAG46898,ABW34730,ABW34731,ABW34732,ABW34733,ABW34734,ABW34735,ABW34736,ABW34737,AAB53946,P53539,Q49AD7,Q6FGK6,CBX47618 Hs.590958 AP-1|DKFZp686C0818|G0S3|GOS3|GOSB|MGC42291 G0/G1 switch regulatory protein 3|activator protein 1|oncogene FOS-B|protein fosB protein-coding 732196 FOSL1 FOS-like antigen 1 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq] 2293758,2293756,2293757,2293777,1642465,2293787,737712,1580863 8230424,19453261,19160107,18435914,18288638,18172271,18098284,18096084,17882273,17872495,17616677,17572495,17371847,17254320,17192200,16490785,16189514,15831677,15615716,15608675,15489334,13679379,12692267,12477932,12424143,12371906,12209953,11912197,11708771,9858769,9458721,9373149,9267807,9160889,9016559,8938448,8276409,8125298,2107490,15806162,10918580,19913121,20211142,11431474,19060904,19384981,19874574,19923172,20198886,20353950 2293758,2293756,2293757,2293777,1642465,2293787,737712 8061 NM_005438,AJ297411,AP006287,CH471076,AK222902,AK293297,AK299050,AK313718,BC016648,BQ937004,CR542257,CR542278,CR591085,CR608946,X16707 NP_005429,CAC50237,EAW74469,BAD96622,BAG56818,BAG61123,BAG36461,AAH16648,CAG47053,CAG47074,CAA34679,P15407,Q53GM9,ABM81980,ABM83629,ABM84258,ABM85159,ABM87647,ABW03920 Hs.283565 FRA|FRA1|fra-1 FOS-like antigen-1|fos-related antigen 1 1643405 BMD9_H protein-coding 733116 FOSL2 FOS-like antigen 2 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq] 1580863,2293779,2293758 20675274,8954781,19321746,18641127,18071306,17393299,17081983,15489334,15302935,14702039,14499865,12477932,12052862,11708771,11570575,10816578,10713367,10419887,2107490,9160889,20837772,18029348,19620306,19874574,19933934,20039427 2293779,2293758 2355 NM_005253,AC104695,CH471053,AK026959,AK055579,AK302622,AK315415,BC008899,BC022791,BC085197,BM023443,BQ574214,BX647822,CR542262,X16706 NP_005244,AAY14908,AAY14909,EAX00537,EAX00538,EAX00539,EAX00540,BAB15603,BAG51539,BAG63866,BAG37805,AAH22791,CAG47058,CAA34678,P15408,Q6FG46,Q9H5M2,ABM84354,ABM87742 Hs.220971,Hs.596972 FLJ23306|FRA2 FRA-2|OTTHUMP00000200848|fos-related antigen 2 protein-coding 1605727 FOXA1 forkhead box A1 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq] 20646630,8652662,19470727,19445897,19261198,19183483,19129543,18688264,18538561,18358809,18178153,18039470,17671124,17616709,17373880,16381901,16331276,16239259,16087863,16009131,20610384,20628005,19919681,15737987,15489336,15489334,12750453,12477932,12441652,12234996,11864602,11355750,11076863,10899756,9119385,8034310,1672118,1612587,12509444,20211142,20503388,19127412,19371798,19486887,19549328,19846536,19866472,19897491,19917725,20018680,20043065,20048076,20160041,20501593,9931457 3169 NM_004496,AF176112,AF303743,AL121790,CH471078,AK313785,BC033890,BU860564,U39840 NP_004487,AAD51979,AAG40847,EAW65844,BAG36523,AAH33890,AAB06493,P55317,CAL37741,CAL38117,CAL38188,CAL38247 Hs.163484 HNF3A|MGC33105|TCF3A HNF-3-alpha|HNF-3A|TCF-3A|forkhead box protein A1|hepatocyte nuclear factor 3, alpha|hepatocyte nuclear factor 3-alpha|transcription factor 3A protein-coding 1605726 FOXA2 forkhead box A2 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1627574,2313246,2312358,2313245,2313242,2313243 19913121,20628086,12911579,18797817,18753309,18682709,18666263,18660816,18593902,18381283,17715393,17471492,17283222,17101796,16892178,16675598,16001449,15737987,15489334,15205324,15123725,14739090,14500912,12642491,12509444,12477932,12163409,12124776,11875061,11780052,11069927,10899756,10868948,10748198,10672453,10623575,9119385,18798232,19302415,19589781,19769745,19934400,20048076,20049900,20074681,20152958,20160041,20357092,20382118,9931457 1627574,2313246,2312358,2313245,2313242,2313243 3170 NM_153675,NM_021784,AF147787,AF176110,AL121722,CH471133,CS104988,CS104990,EU402966,AA469087,AB028021,AI268650,AI302734,AK301611,BC006545,BC011780,BC019288,BM273279,BQ643619 NP_710141,NP_068556,AAD41081,AAD51978,CAB89773,EAX10174,EAX10175,CAJ01277,CAJ01278,ACA06111,BAA78106,BAG63097,AAH06545,AAH11780,AAH19288,Q9Y261,ABM83809,ABM87131 Hs.155651 HNF3B|MGC19807|TCF3B HNF-3-beta|HNF-3B|TCF-3B|forkhead box protein A2|hepatic nuclear factor-3-beta|hepatocyte nuclear factor 3, beta|hepatocyte nuclear factor 3-beta|transcription factor 3B 1643383,1643385 BW312_H,BW311_H protein-coding 1605725 FOXA3 forkhead box A3 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. 2315085 19919681,7739897,15839736,15737987,15489334,12477932,11748221,10920385,10899756,9632808,9373149,9119385,8499623,8332212,8125298,12695546,18239190,19934400,9369482 2315085 3171 NM_004497,AC008623,EU275778,AK223473,BC016024,BT006720,L12141,AF176113,AF176114,CH471126 NP_004488,ABX44664,BAD97193,AAH16024,AAP35366,AAA58477,P55318,AAD51980,EAW57394,EAW57395 Hs.36137 FKHH3|HNF3G|MGC10179|TCF3G HNF-3-gamma|HNF-3G|TCF-3G|fork head-related protein FKH H3|forkhead box protein A3|hepatocyte nuclear factor 3, gamma|hepatocyte nuclear factor 3-gamma|transcription factor 3G protein-coding 1313112 FOXB1 forkhead box B1 1580863 16344560,12477932 27023 NM_012182,AC009654,AF055080,CH471082,AF071554,AK290944,AK314075,BC113710,DA685771,U87393 NP_036314,AAC09344,EAW77581,AAC62493,BAF83633,AAI13711,AAB47564,Q99853 Hs.160375,Hs.710974 FKH5|HFKH-5 forkhead box protein B1|transcription factor FKH-5 protein-coding 1605769 FOXB2 forkhead box B2 15164053 442425 NM_001013735,AL353637 NP_001013757,CAH70683,Q5VYV0 Hs.553843 bA159H20.4 forkhead box protein B2 protein-coding 1353830 FOXC1 forkhead box C1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq] 1580863,1582564 11748221,11740218,11320352,11170889,11007653,10713890,10474162,9792859,9620769,9382099,9326342,8940278,8825632,7957066,15277473,8499623,15684392,12408963,12614756,16449236,18708620,18676680,18676636,18616618,18564921,18498376,18484311,17993506,17653043,17558846,17486624,17197537,17157569,17000708,16952980,16936096,16638984,16492674,15477465,15299087,14702039,14578375,14574404,14506133,12592227,12454026,12234674,11821690,19913121,20628086,11782474,20056007,20338046,11179011,11237714,11562355,12477932,19170196,19279310,19513095,19625176,19626132,19668217,19692168,19793056,20406990,20453000,20881294,21031026 1582564 2296 NM_001453,NG_009368,AF048693,AF078096,AL034344,AY228703,AY228704,AY228705,CH471087,AK021858,BC134421,L12143,U13221,GQ282997 AAC18081,AAC72915,CAB81658,AAP15181,EAW55074,AAI34422,AAK13575,AAA92038,Q12948,AAI69306,AAI69307,NP_001444,ACS83750 Hs.348883 ARA|FKHL7|FREAC-3|FREAC3|IGDA|IHG1|IRID1|RIEG3 forkhead box protein C1|forkhead, drosophila, homolog-like 7|forkhead-related activator 3|forkhead-related protein FKHL7|forkhead-related transcription factor 3|forkhead/winged helix-like transcription factor 7|myeloid factor-delta protein-coding 1347315 FOXC2 forkhead box C2 (MFH-1, mesenchyme forkhead 1) This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq] 1601217,1601220,1580863,1582564,1601218,1601216,1601219 20535019,12477932,12453913,12383817,11694548,11551504,11499682,11371511,11078474,11076863,10669593,10417285,16456100,16081467,9169153,12114478,8674414,19453261,19394045,19185813,19056482,19013876,18986489,18974842,18973153,18660489,18564920,18197197,17537911,17372167,17342473,17081983,16952980,16786163,15926113,15919786,15601967,15597109,15523639,15489334,15198934,14530861,12716768,12540636,12485195,20634891,20552815,11562355,19339011,19548265,19760751,19876004,19935708,20060810,20201926,20218083,20450314,20540670,19336002,20460685 1601217,1601220,1582564,1601218,1601216,1601219 2303 NM_005251,NG_012025,AC009108,CH471114,GQ282998,Y08223,BC113437,BC113439 NP_005242,EAW95416,ACS83751,CAA69400,AAI13438,AAI13440,Q99958,AAI11590,EAW95415 Hs.436448 FKHL14|LD|MFH-1|MFH1 MFH-1,mesenchyme forkhead 1|forkhead box protein C2|forkhead, Drosophila, homolog-like 14|forkhead-related protein FKHL14|mesenchyme fork head protein 1|transcription factor FKH-14 protein-coding 1343882 FOXD1 forkhead box D1 This intronless gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in tumor formation. [provided by RefSeq] 1580863 7957066,8702877,15716278,8825632 2297 NM_004472,AC099522,CH471084,U59831,U13222,U59832 NP_004463,EAW95721,AAC50660,AAA92039,AAC50661,Q16676,AAI60026 Hs.519385 FKHL8|FREAC4 FREAC-4|Forkhead, drosophila, homolog-like 8|forkhead box protein D1|forkhead-like 8|forkhead-related activator 4|forkhead-related protein FKHL8|forkhead-related transcription factor 4 protein-coding 1312200 FOXD2 forkhead box D2 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. [provided by RefSeq] 1580863 8889548,9403061,12621056 2306 NM_004474,AL607122,CH471059,AF042832,AL559120,BM665076 NP_004465,CAI14974,EAX06866,AAC15421,O60548,AAI69309,AAI69310 Hs.166188 FKHL17|FREAC-9|FREAC9 forkhead box protein D2|forkhead, drosophila, homolog-like 17|forkhead-like 17|forkhead-related activator 9|forkhead-related protein FKHL17|forkhead-related transcription factor 9 protein-coding 1347778 FOXD3 forkhead box D3 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq] 1580863 11891324,19034670,16710414,16098053,11179011,8499623,20332228 27022 NM_012183,NG_012220,AF197560,AL049636,CH471059,AF086235,L12142 NP_036315,AAF05844,CAC19431,EAX06575,AAK13574,Q9UJU5,AAI72266,AAI72572 Hs.546573 AIS1|Genesis|HFH2 HNF3/FH transcription factor genesis|forkhead box protein D3 protein-coding 1346778 FOXD4 forkhead box D4 1580863 8825632,15233989,18029348,7957066,9325056,17273782,15489334,15164053,12477932,12421752,12234674,8889548 2298 NM_207305,AF343004,AL449043,AF452724,AY344640,BC089432,BC103886,BC136570,BC136571,CF139066,U13223 NP_997188,AAL73341,CAH70545,AAN64909,AAQ76878,AAH89432,AAI03887,AAI36571,AAI36572,AAA92040,Q12950,Q3MI95,Q6VB86 Hs.584759 FKHL9|FOXD4A|FREAC5|MGC105106 FREAC-5|forkhead box protein D4|forkhead, Drosophila, homolog-like 9|forkhead-like 9|forkhead-related activator 5|forkhead-related protein FKHL9|forkhead-related transcription factor 5|myeloid factor-alpha protein-coding 1351590 FOXD4L1 forkhead box D4-like 1 This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. [provided by RefSeq] 1580863 15815621,15233989,14702039,12477932,12421752,7957066,18029348 200350 NM_012184,AL078621,AF452723,AK122950,AK125398,AY344639,BC136428 NP_036316,CAB81641,AAN64908,BAG53815,BAG54193,AAQ76877,AAI36429,Q9NU39,AAI48649,AAI53202 Hs.591554 FOXD5|bA395L14.1 FOXD4-like 1|forkhead box D4 like 1|forkhead box protein D4-like 1 protein-coding 1625815 FOXD4L2 forkhead box D4-like 2 15233989,12421752,12234674,9847074 100036519 NM_001099279,AC129778 NP_001092749 Hs.712520 forkhead box D4-like 2 protein-coding 1606108 FOXD4L3 forkhead box D4-like 3 15233989,12477932,12421752,18029348 286380 NM_199135,AL353608,AY344641,AY344642 NP_954586,CAI41168,AAQ76879,AAQ76880,Q5JTX9,Q6VB84,Q6VB85,AAI72338,AAI72341 Hs.449471 FOXD4L2|FOXD6|MGC119257 FOXD4-like 2|FOXD4-like 3|Forkhead box protein D4-like 3|forkhead box D4 like 3|forkhead box protein D4-like 2 protein-coding 1602044 FOXD4L4 forkhead box D4-like 4 12421752,12234674,18029348 349334 NM_199244,AF343005,AF343008,BX284632 NP_954714,AAL73342,AAL73345,CAI14283,Q8WTR0,Q8WXT5,AAI72340 Hs.534644 FOXD4b|bA460E7.2 FOXD4-like 4|forkhead box protein D4-like 4|forkhead box protein D4b|myeloid factor-gamma|winged helix factor-1|winged helix transcription factor beta protein-coding 2293114 FOXD4L5 forkhead box D4-like 5 18029348,15164053,12234674 653427 NM_001126334,AL512605,AF343006 NP_001119806,CAH70699,AAL73343,Q5VV16,Q8WTR0 Hs.714683,Hs.652377 bA15J10.2 FOXD4-like 5|forkhead box protein D4-like 5 protein-coding 1604667 FOXD4L6 forkhead box D4-like 6 12477932,18029348 653404 NM_001085476,BX255923,BC103887,BC137365,BC137366 NP_001078945,CAI94919,AAI03888,AAI37366,AAI37367,Q3SYB3,ABZ92214 Hs.652377 MGC119257 FOXD4-like 6|forkhead box protein D4-like 6 protein-coding 735499 FOXE1 forkhead box E1 (thyroid transcription factor 2) This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis. Mutations in this gene are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I. [provided by RefSeq] 704404,1580863 20453517,19845668,9169137,9697705,12165566,19198613,19192046,18978678,17717707,17318017,16882747,16584930,16481406,16327884,15367491,15320969,15140221,14654228,14611701,11762722,11580993,10748198,10403172,9214635,9052737,20572854,20583170,20634891,20672350,19730683,19779022,19930442,20094846,20157192,20200978,20350937,20544801 2304 NM_004473,NG_011979,AL499604,CH471105,Y13386,U89995,X94553 NP_004464,CAI12803,EAW58856,CAA73816,AAC51294,CAA64246,O00358,AAI52745 Hs.159234 FKHL15|FOXE2|HFKH4|HFKL5|TITF2|TTF-2|TTF2 HNF-3/fork head-like protein 5|forkhead box E2|forkhead box protein E1|forkhead box protein E2|forkhead, drosophila, homolog-like 15|forkhead-related protein FKHL15|thyroid transcription factor 2 protein-coding 1316815 FOXE3 forkhead box E3 1598956,1598957,1580863 8825632,10652278,16826526,16710414,11159941,19708017,20140963,20361012,20664696,20806047,20630806 1598956,1598957 2301 NM_012186,AL607122,U42990,AF275722,NG_016192 NP_036318,CAI14973,AAB48856,AAF82793,Q13461,AAI72358 Hs.112968 ASMD|FKHL12|FREAC8 FREAC-8|forkhead box protein E3|forkhead, drosophila, homolog-like 12|forkhead-related protein FKHL12|forkhead-related transcription factor 8 protein-coding 1348211 FOXF1 forkhead box F1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq] 1580863 9722567,7957066,8626802,9769171,19500772,16772323,16448649,16344560,15489334,12477932,8825632,7959731,20549505,19822228,19851296,20145151,20198315,20233876,18564921 2294 NM_001451,AC009108,AF085343,CH471114,AK314167,BC089442,CA438612,DB011539,U13219,NG_016273 NP_001442,AAC61576,EAW95424,BAG36851,AAH89442,AAC50399,Q12946,ACE87508,ACE86822 Hs.155591 ACDMPV|FKHL5|FREAC1|MGC105125 FREAC-1|Forkhead, drosophila, homolog-like 5|forkhead box protein F1|forkhead-related activator 1|forkhead-related protein FKHL5|forkhead-related transcription factor 1 protein-coding 1352114 FOXF2 forkhead box F2 FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq] 1580863 20634891,17474147,7957066,8626802,9722567,19276632,9799607,7959731,19220249,19562724 2295 NM_001452,AF084939,AL034346,CH471087,U13220 NP_001443,AAD19875,CAI22285,EAW55072,AAC32226,Q12947,AAI72251 Hs.484423 FKHL6|FREAC2 FREAC-2|forkhead box protein F2|forkhead-like 6|forkhead-related activator 2|forkhead-related protein FKHL6|forkhead-related transcription factor 2 protein-coding 1346258 FOXG1 forkhead box G1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and the telencephalon. 1580863 7599184,17260156,12477932,7959731,10938097 2291 P55316 BC040960,X78202,X74143 CAA55038,CAA52240,P55316 Hs.649934,Hs.653289 BF1|BF2|FKH2|FKHL1|FKHL2|FKHL3|FKHL4|FOXG1A|FOXG1B|FOXG1C|HBF-2|HBF-3|HBF-G2|HBF2|HFK1|HFK2|HFK3|KHL2|QIN protein-coding 737514 FOXG1B forkhead box G1B This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. 1580863,704404 7959731,16133170,15084259,12657635,12477932,11387330,11238932,10938097,10498272,10373304,8170957,8099441,7957066,7599184,7585630 2290 P55315,Q86XT7 BC035020,BC050072,CR602240,CR617342,X74142,NM_005249,AL049777,CH471078 EAW65978,AAH50072,CAA52239,P55315,Q86XT7,NP_005240 Hs.649934,Hs.688232 BF1|FKH2|FKHL1|FKHL4|HBF-1|HFK1|QIN forkhead box o1 protein-coding 1353322 FOXG1C forkhead box G1C 1580863 12508121,7959731 2292 Q14488 X74144 CAA52241,Q14488 Hs.649934 FHKL3|FKHL3|HBF-3|HFK3 protein-coding 1322645 FOXH1 forkhead box H1 FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq] 1580863,2302136,2302137 18538293,9389648,9702198,19525021,16120611,15982639,15750622,15737749,15363409,12477932,12471260,11371641,11076863,10938097,9858566,9288972,10199400,15084259,17438144,17474147,19711044,20634891 2302136,2302137 8928 NM_003923,AC084125,CH471162,AF076292,BC051376,BC065377,BE550635,CX782591 NP_003914,EAW82083,EAW82084,AAC34303,AAH65377,O75593,Q6P0Y2,AAI11605 Hs.708365 FAST-1|FAST1 TGF-beta/activin signal transducer|fast-2|forkhead activin signal transducer 1|forkhead activin signal transducer 2|forkhead activin signal transducer-1|forkhead box protein H1|hFAST-1 protein-coding 1316609 FOXI1 forkhead box I1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Mutations in this gene may be associated with the common cavity phenotype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7957066,19214237,18564921,15489334,12695546,12477932,9153225,8825632,7683413,20621367,20809947 2299 NM_012188,NM_144769,NG_012068,AC008660,CH471062,U13224,AK292176,AY707089,BC029778,L13203,GU049150,GU049151,GU049152,GU049153,GU049154,GU049155,GU049156,GU049157,GU049158,GU049159,GU049160,GU049161,GU049162,GU049163,GU049164,GU049165,GU049166,GU049167,GU049168,GU049169,GU049170,GU049171,GU049172,GU049173,GU049174,GU049175,GU049176,GU049177,GU049178,GU049179,GU049180,GU049181,GU049182,GU049183,GU049184,GU049185,GU049186,GU049187,GU049188,GU049189,GU049190,GU049191,GU049192,GU049193,GU049194,GU049195,GU049196,GU049197,GU049198,GU049199,GU049200,GU049201,GU049202,GU049203,GU049204,GU049205,GU049206,GU049207,GU049208,GU049209,GU049210,GU049211,GU049212,GU049213,GU049214,GU049215,GU049216,GU049217,GU049218,GU049219,GU049220,GU049221,GU049222,GU049223,GU049224,GU049225,GU049226,GU049227,GU049228,GU049229,GU049230,GU049231,GU049232,GU049233,GU049234,GU049235,GU049236,GU049237,GU049238,GU049239,GU049240,GU049241,GU049242,GU049243,GU049244,GU049245,GU049246,GU049247,GU049248,GU049249,GU049250,GU049251,GU049252,GU049254,GU049255,GU049256,GU049257,GU049258,GU049259,GU049260,GU049261,GU049262,GU049263,GU049264,GU049265,GU049266,GU049267,GU049268,GU049269 NP_036320,NP_658982,EAW61489,EAW61490,AAA92041,BAF84865,AAU12169,AAH29778,AAB50574,Q12951,ADN03217,ADN03218,ADN03219,ADN03220,ADN03221,ADN03222,ADN03223,ADN03224,ADN03225,ADN03226,ADN03227,ADN03228,ADN03229,ADN03230,ADN03231,ADN03232,ADN03233,ADN03234,ADN03235,ADN03236,ADN03237,ADN03238,ADN03239,ADN03240,ADN03241,ADN03242,ADN03243,ADN03244,ADN03245,ADN03246,ADN03247,ADN03248,ADN03249,ADN03250,ADN03251,ADN03252,ADN03253,ADN03254,ADN03255,ADN03256,ADN03257,ADN03258,ADN03259,ADN03260,ADN03261,ADN03262,ADN03263,ADN03264,ADN03265,ADN03266,ADN03267,ADN03268,ADN03269,ADN03270,ADN03271,ADN03272,ADN03273,ADN03274,ADN03275,ADN03276,ADN03277,ADN03278,ADN03279,ADN03280,ADN03281,ADN03282,ADN03283,ADN03284,ADN03285,ADN03286,ADN03287,ADN03288,ADN03289,ADN03290,ADN03291,ADN03292,ADN03293,ADN03294,ADN03295,ADN03296,ADN03297,ADN03298,ADN03299,ADN03300,ADN03301,ADN03302,ADN03303,ADN03304,ADN03305,ADN03306,ADN03307,ADN03308,ADN03309,ADN03310,ADN03311,ADN03312,ADN03313,ADN03314,ADN03315,ADN03316,ADN03317,ADN03318,ADN03319,ADN03321,ADN03322,ADN03323,ADN03324,ADN03325,ADN03326,ADN03327,ADN03328,ADN03329,ADN03330,ADN03331,ADN03332,ADN03333,ADN03334,ADN03335,ADN03336 Hs.87236 FKH10|FKHL10|FREAC-6|FREAC6|HFH-3|HFH3|MGC34197 FREAC-6|HFH-3|HNF-3/fork-head homolog 3|HNF-3/fork-head homolog-3|forkhead box protein I1|forkhead-like 10|forkhead-related activator 6|forkhead-related protein FKHL10|forkhead-related transcription factor 6|hepatocyte nuclear factor 3 forkhead homolog 3 protein-coding 1602262 FOXI2 forkhead box I2 16289364,12477932 399823 NM_207426,AL391005,AK128865,BC137296,BC137297 NP_997309,BAC87649,AAI37297,AAI37298,Q6ZQN5 Hs.449674 FLJ46831 forkhead box protein I2|homolog of mouse Foxi2 protein-coding 2302532 FOXI3 forkhead box I3 18787161,15815621 344167 NM_001135649,AC012671,BN001221,BN001222 NP_001129121,CAR63508,CAR63509,A8MTJ6 Hs.716722 forkhead box protein I3 protein-coding 732358 FOXJ1 forkhead box J1 FOXJ1 is a member of the forkhead gene family, which was originally identified in Drosophila. The forkhead family is composed of transcription factors with a conserved 100-amino acid DNA-binding motif.[supplied by OMIM] 1580863,704404 17474147,9073514,18160851,16518568,15489334,12477932,11060460,9530170,9096351,17008636 2302 NM_001454,AC018665,AJ272064,CH471099,X99350,BC046460,U69537,X99349,DB458983,NG_013345 NP_001445,CAB76562,EAW89375,EAW89376,CAA67730,AAH46460,AAB09039,CAA67729,Q92949 Hs.651204 FKHL13|HFH-4|HFH4|MGC35202 fork head homologue 4|forkhead box protein J1|forkhead transcription factor HFH-4|forkhead-like 13|forkhead-related protein FKHL13|hepatocyte nuclear factor 3 forkhead homolog 4 protein-coding 1344904 FOXJ2 forkhead box J2 1580863 15489334,14702039,12787665,12477932,10966786,10777590,9110174,8889548,8619474,18029348,18564921,19423540,20237496,20406964,20438785 55810 NM_018416,AC006511,CH471116,AF038177,AF155132,AF155133,AK092529,AL161978,BC126396,BC136305,CB243304 NP_060886,EAW88642,EAW88643,AAF65927,AAK49016,CAB82315,AAI26397,AAI36306,Q9P0K8,ADR83070 Hs.120844 FHX FOXJ2 forkhead factor|fork head homologous X|forkhead box protein J2 protein-coding 1323400 FOXJ3 forkhead box J3 1580863 15489334,12477932,12421765,10470851,20379614 22887 NM_014947,AC096540,AC114492,CH471059,AB028964,AK027075,AK128307,AL157422,BC014182,BC063298,BC151828,BC152441,NM_001198850,NM_001198851,NM_001198852 NP_055762,EAX07162,EAX07163,EAX07164,EAX07165,EAX07166,EAX07167,BAA82993,CAB75651,AAH14182,AAI51829,AAI52442,Q9UPW0,AAI60166,NP_001185779,NP_001185780,NP_001185781 Hs.26023 MGC165036|MGC176686 OTTHUMP00000007928|OTTHUMP00000007929|forkhead box protein J3 protein-coding 1604502 FOXK1 forkhead box K1 17081983,16624804,15489334,15289879,15202027,14702039,12853948,12477932,17353931,18029348,19615732,20562859 221937 NM_001037165,AC072054,AC092428,AC092610,CH471144,AK027883,AK122663,AK302243,AW205747,BC038434,CB959941 NP_001032242,EAW87291,BAG53651,BAG63595,P85037 Hs.487393 FLJ14977|FOXK1L MNF|forkhead box protein K1|myocyte nuclear factor protein-coding 1313423 FOXK2 forkhead box K2 The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq] 1909027,16624804,1339390,12402362,16964243,16625196,14702039,12477932,11230166,9065434,3260003,18029348,19815555,19615732,20097901 3607 NM_004514,AC124283,AC124287,CH471099,AA889932,AK096800,AK098140,AL832570,BC041569,CR620815,U58196,U58197,U58198 NP_004505,EAW89800,EAW89801,EAW89802,AAB02820,AAB02821,AAB02822,Q01167,Q9H0E4 Hs.591140 ILF|ILF-1|ILF1 FOXK1|cellular transcription factor ILF-1|forkhead box protein K2|interleukin enhancer binding factor 1|interleukin enhancer-binding factor 1 protein-coding 1353210 FOXL1 forkhead box L1 1580863 7957066,11078474,18564921,15489334,15188402,12477932,8889548,19801982,20198651 2300 NM_005250,AC009108,AF315075,CH471114,U13225,BC100027,BC117226,BM675371 NP_005241,AAG40312,EAW95414,AAA92042,AAI00028,AAI17227,Q12952,Q498Y4 Hs.533830 FKH6|FKHL11|FREAC7 FREAC-7|forkhead box protein L1|forkhead-like 11|forkhead-related protein FKHL11|forkhead-related transcription factor 7 protein-coding 1320713 FOXL2 forkhead box L2 This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq] 1580863,1598958 20711176,16153597,11175783,12471206,12630957,12149404,12161610,19516027,19371227,19106105,19010791,18726931,18721930,18642388,18635577,18372316,18158309,18028747,17968144,17277738,17089161,16814186,16394030,16283882,16219626,16131596,16086270,15962237,15591279,15489334,15300845,15257268,15181179,15081106,12938087,12567411,12560069,12529855,12477932,12400065,11960581,11910558,11776388,11474656,11468277,10702024,10036183,1941972,17897532,20236120,20459545,20207836,20233786,16720712,17393695,19324968,19515849,19543368,19592504,19706741,19744555,19797124,19917504,19929410,19956657,19969293,19996294,20098707,20184535,20198651,20222838,20448577,20209145,21146150,18484667,20734064 1598958 668 NG_012454,AC092947,AY331134,DQ016593,DQ016608,DQ016609,AF301906,AI089172,BC019896,BC062549,BF512713,DQ089670,DQ089671,DQ089672,NM_023067 AAQ01519,AAY21821,AAY21822,AAY21823,AAK01352,AAH19896,AAH62549,AAY89234,AAY89235,AAY89236,P58012,Q05CX9,Q4JHB5,Q4JHB6,Q4JHB7,Q53ZD3,NP_075555 Hs.289292 BPES|BPES1|PFRK|PINTO|POF3 forkhead box protein L2|forkhead transcription factor FOXL2 protein-coding 1604404 FOXM1 forkhead box M1 2315927 20658516,20712011,20660304,20187950,20400365,20530690,21062979,20660612,10523841,16809346,19351851,19276163,19160488,19121844,19097132,18974115,18758239,18573889,18524773,18393292,18297053,18285455,18254960,18020943,17984092,17804744,17101782,17014965,16955137,16913845,16701100,16585184,16504183,16489016,16314512,15958562,15489334,15302935,15024056,14686788,12477932,12183437,11861839,9441747,9242644,9032290,8290587,15654331,20531406,19813088,20823107,18029348,20211142,20800603,20379221,16913846,19200615,19440351,19513552,19525975,19615363,19672312,19696738,19737929,20028985,20068070,20154714,20190804,20332230,20351091,20351289,20816795 2315927 2305 FB292650,NM_202003,NM_021953,NM_202002,AC005841,AC005911,CH471116,CS174342,DQ022289,AK291206,AK313845,AY542306,BC006192,BC006529,BC012863,BC035437,BQ229497,BT006986,CR626615,L16783,U74612,U74613,U83113 CAP58600,AAC63595,NP_973732,NP_068772,NP_973731,EAW88880,EAW88881,EAW88882,EAW88883,CAJ34550,AAY26401,BAF83895,AAT08175,AAH06192,AAH06529,AAH12863,AAP35632,AAC37541,AAC51128,AAC51129,Q08050,Q53Y49 Hs.239 FKHL16|FOXM1B|HFH-11|HFH11|HNF-3|INS-1|MPHOSPH2|MPP-2|MPP2|PIG29|TGT3|TRIDENT Forkhead, drosophila, homolog-like 16|HNF-3/fork-head homolog 11|M-phase phosphoprotein 2|MPM-2 reactive phosphoprotein 2|forkhead box protein M1|forkhead-like 16|forkhead-related protein FKHL16|hepatocyte nuclear factor 3 forkhead homolog 11|transcription factor Trident|winged-helix factor from INS-1 cells protein-coding 1349825 FOXN1 forkhead box N1 Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq] 1599846,1580863 16232301,15316080,15180707,10483588,10206641,9321431,10767081,7969402,17803914,17592270,19729838,20429426,20634891 1599846 8456 NM_003593,NG_007260,AC005726,CH471159,Y11740,Y11741,Y11742,Y11743,Y11744,Y11745,Y11746,AK313878,Y11739 NP_003584,EAW51092,CAA72417,BAG36604,CAA72416,O15353,AAI40424,AAI46540 Hs.663679 FKHL20|RONU|WHN Rowett nude|forkhead box protein N1|winged helix nude|winged-helix nude|winged-helix transcription factor nude protein-coding 1343664 FOXN2 forkhead box N2 This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. [provided by RefSeq] 1580863 1639393,18029348,14702039,12477932,20379614 3344 NM_002158,AC091485,AA827684,AK123200,BC063305,BC069731,BQ025120,CR605501,CR749839,U57029 NP_002149,AAY14813,AAH63305,AAH69731,AAB03504,P32314,Q6IS90,ABZ92013 Hs.468478 HTLF OTTHUMP00000200474|forkhead box protein N2|human T-cell leukemia virus enhancer factor protein-coding 1313904 FOXN3 forkhead box N3 This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq] 1580863 20634891,19609547,20379614,20691664,16951149,16102918,9154802,18074379,17983802,15489334,15342556,15231747,14702039,12508121,12477932,11483580,9373149,8889549,8617492,8125298 1112 NM_005197,AC007263,AL137230,AL138478,AL157736,AL163032,AL356805,AL357093,CH471061,AA149521,AA938188,AF116643,AI084011,AI240081,AK055175,AK123929,AK225967,AK308053,AK314098,BC007506,BC010227,BC010460,BP213901,CB268882,CB989352,U68723,NM_001085471 NP_001078940,NP_005188,AAF18259,EAW81403,EAW81404,EAW81405,EAW81406,AAF71066,BAG36793,AAH07506,AAB58252,O00409,Q9P1I8,ACE87411,ACE86725 Hs.434286,Hs.621371 C14orf116|CHES1|PRO1635 checkpoint suppressor 1|forkhead box protein N3 protein-coding 1314977 FOXN4 forkhead box N4 Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM] 16541075,15492871,15464224,15363391,14702039,12477932 121643 NM_213596,AC012384,CH471054,AA421288,AF425596,AF425597,AK093286,AK131519,BC113073,BC146825 NP_998761,EAW97856,EAW97857,AAL23949,AAL23950,BAD18661,AAI13074,AAI46826,Q96NZ1 Hs.528316 FLJ35967 forkhead box protein N4|forkhead/winged helix transcription factor FOXN4 protein-coding 737155 FOXO1 forkhead box O1 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq] 2301729,2302136,2302137,704404,1582564,1580863 20406953,20868688,15668399,17050673,19740748,20819778,20884733,20933505,20543840,18022385,18006475,17993506,17986608,17873969,17638879,17613043,17609436,17599040,17597184,17556536,17555999,17525748,17491598,17490646,17478621,17442120,17404186,17285543,17258205,17218607,17077083,17038621,16979636,16973122,16964289,16952980,16952014,16950602,16943287,16916907,16885156,16849544,16709600,16690806,16670089,16571842,16497530,16492665,16485043,16282329,16133873,16123151,16100571,16076959,15987820,15905404,15890677,15778376,15692560,15688409,15688035,15632117,15613482,15582274,15489334,15342912,15184910,15140004,15109499,11353774,17202144,18408765,12228231,7862145,10871843,11311120,19321440,19308286,19281796,19254690,19244250,19233123,19221179,19150739,19141580,19103600,19086408,19075016,19058789,19049975,18988640,18951090,18844239,18815134,18805788,18787186,18786403,18718910,18713968,18692812,18660489,18612045,18497885,18497882,18483260,18420577,18356527,18316359,18303411,18301748,18280254,18096667,15084259,15057823,15047604,14726521,14664696,12960271,12921955,12606503,12560069,12519792,12493691,12482965,12477932,12242297,12163409,12150827,12039929,11980723,11893744,11735247,11672436,11435445,11237865,11030146,10973497,10783894,10358075,10358014,9479491,8790412,8275086,7630639,20682687,19757185,19772960,20719862,20151947,20485516,12966085,17030088,18029348,18788887,19442434,19463968,19483080,19503105,19513505,19549905,19563779,19574223,19584310,19633686,19675556,19696738,19727442,19787258,19793722,19887561,19893043,19948975,19953635,19956688,20018872,20033803,20061393,20095040,20351326,20353756,20357092,20412774,20125105 2301729,2302136,2302137,1582564 2308 NG_023244,NM_002015,AL133318,AL355132,AL592167,CH471075,AF032885,BC021981,BC070065,BT007455,BX648278,U02310 NP_002006,CAI16970,CAH70978,EAX08627,AAC39591,AAH21981,AAH70065,AAP36123,AAA03629,Q12778 Hs.370666 FKH1|FKHR|FOXO1A forkhead box O1A (rhabdomyosarcoma)|forkhead box o1a (rhabdomyosarcoma)|forkhead box protein O1|forkhead box protein O1A|forkhead homolog in rhabdomyosarcoma|forkhead in rhabdomyosarcoma|forkhead, Drosophila, homolog of, in rhabdomyosarcoma protein-coding 1343239 FOXO1B forkhead box O1B pseudogene 9479491 2311 NG_001120,AC008620,AF032888 FKHRP1 pseudo 1319403 FOXO3 forkhead box O3 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 2302136,2302137,2301729,1580863 20625400,20729811,20671123,20849522,20881262,20884733,16133873,16100571,16061480,15798096,15688014,15674333,15662024,15616007,15551757,15509806,15489334,15324660,15322085,15207915,15084260,15084259,15047604,14981546,14976264,14962911,14702039,14574404,14563822,14551207,14527951,12960271,12881712,12477932,12351634,12107410,12027802,11896584,11884591,11435445,11154281,10783894,9852958,9479491,9345057,15265780,15708996,15905404,15604409,18781224,16751106,10102273,14734530,19533653,19424579,19415983,19355923,19324885,19321440,19285077,19276163,19276113,19244250,19211844,19196970,19188590,19160093,19151395,19050264,19010793,18981303,18978678,18977241,18824006,18772130,18765803,18757300,18757210,18756565,18692812,18687691,18685617,18678662,18572085,18524825,18487207,18458087,18393360,18391984,18385518,18363870,18360030,18344987,18312651,18311149,18239069,18204439,18195003,18193458,18178829,18063811,18055337,18037997,18032780,18032526,17959613,17940099,17900262,17888023,17726016,17711846,17601350,17558024,17522055,17496928,17452451,17389761,17234971,17190839,17077388,17044646,16979636,16888645,16709600,16690749,16687394,16571842,16373335,16809346,19911116,19913121,20110348,20628086,20631076,20677014,20966391,15604093,16964248,18593906,18787191,19380174,19457552,19473970,19494111,19564415,19592618,19608644,19636295,19751111,19793722,19807657,19917721,19933843,20018851,20018872,20040763,20169663,20215543,20219431,20306291,20371605,20371610,20371612,20379614,20562859,20656682,20808831 2302136,2302137,2301729 2309 NM_001455,AJ001590,AL096818,AL365509,AL391646,CH471051,AB072905,AF032886,AI554317,AJ001589,AK024103,AK092357,AK122861,AK301304,AK303933,BC020227,BC021224,BC045800,NM_201559,BC068552,CA389775,CD101760,CR623727,CR749261 NP_963853,NP_001446,CAA04861,CAI16295,CAI16405,EAW48373,EAW48374,AAC39592,CAA04860,BAG62858,BAG64861,AAH20227,AAH21224,AAH68552,CAH18117,O43524,Q68DV3 Hs.220950 AF6q21|DKFZp781A0677|FKHRL1|FKHRL1P2|FOXO2|FOXO3A|MGC12739|MGC31925 forkhead box O3A|forkhead box protein O3|forkhead homolog (rhabdomyosarcoma) like 1|forkhead in rhabdomyosarcoma-like 1|forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1 protein-coding 1348072 FOXO3B forkhead box O3B pseudogene 12477932,9852958,9479491 2310 NR_026718,AC026271,AF032887,AF041336,BC015367 Hs.592126 FKHRL1P1|ZNF286C pseudo 1353756 FOXO4 forkhead box O4 2302136,2302137,1580863 20136501,16964248,19416966,19560465,19932102,20348951,15126506,10783894,16054032,10217147,12761217,16272144,19244250,18794148,18692812,18665269,18648506,17244620,16571842,16215946,16114898,15905404,15824087,15688030,15688004,15538382,15489334,15342556,15084259,7529552,9010221,20037138,14690436,9341872,12964026,12960271,12477932,12192052,11884591,11779849,11777915,11689711,11435445,11352721,11313479,10973497,10921784,10880363,10518537,20570964 2302136,2302137 4303 AW292413,NG_016418,NM_001170931,NM_005938,AL590764,CH471132,Y11284,Y11285,Y11286,AF384029,BC026735,BC106761,BP349083,CR595958,CR596165,CR620527,U10072,X93996 NP_001164402,NP_005929,EAX05321,EAX05322,CAA72156,AAL85197,AAI06762,AAA82171,CAA63819,P98177 Hs.584654 AFX|AFX1|MGC120490|MLLT7 OTTHUMP00000023497|fork head domain transcription factor AFX1|forkhead box protein O4|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, drosophila); translocated to, 7 protein-coding 2292467 FOXO6 forkhead box O6 16710414,12857750 100132074 XM_002342102,AC093151,AI341823,AI361654 XP_002342143,A8MYZ6 Hs.559677 OTTHUMP00000006324|forkhead box O6|forkhead box protein O6 protein-coding 1318576 FOXP1 forkhead box P1 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863,1582564 18029348,19432679,19352412,19141121,18925695,18640093,18487996,18332236,18077790,18026833,17477366,17344859,17199743,16952980,16673020,16636337,16258506,16200457,15709173,15703784,15492844,15286807,15161711,15056695,14702039,14701752,12692134,12477932,11757404,11751404,11042152,8265594,20848658,19913121,20628086,18821565,19365123,19417623,19438754,19448593,19487025,19622517,19680146,19760589,19925052,20185820,20190138,20237496,20379614,20526340,20579129,20950788 1582564 27086 AF146696,AF151049,AF250920,AF275309,AK026898,AK027264,AK074321,AK074569,AK092383,AK122710,AK297649,BC005055,BC054505,BC054815,BC068481,BC071893,BC080521,BC131720,BT006643,BX647682,CR457164,NM_001012505,AC097632,AC097634,AC103586,AC104442,AC104645,AC138058,CH471055,CQ834152,AB052767,NM_032682 BAC53800,AAG47632,AAF36135,AAL56661,AAK69408,BAB55005,BAB85050,BAC11065,BAC03875,BAG53682,BAG60016,AAH05055,AAH54815,AAH71893,AAH80521,AAI31721,AAP35289,CAG33445,Q548T7,Q6IAJ1,Q8IXF4,Q8N2P0,Q8NAN6,Q8TEA2,Q9BSG9,Q9H334,AAI52753,NP_116071,NP_001012523,EAW65489,EAW65490,EAW65491,EAW65492,EAW65493,EAW65494,EAW65495,EAW65496,EAW65497,EAW65498,EAW65499,EAW65500,CAH05291 Hs.431498 12CC4|FLJ23741|HSPC215|MGC12942|MGC88572|MGC99551|QRF1|hFKH1B OTTHUMP00000213500|OTTHUMP00000213501|OTTHUMP00000213502|OTTHUMP00000213503|OTTHUMP00000213504|OTTHUMP00000213505|OTTHUMP00000213506|OTTHUMP00000213507|fork head-related protein like B|forkhead box protein P1|glutamine-rich factor 1 2315897 GLUCO187_H protein-coding 1351861 FOXP2 forkhead box P2 This gene encodes an evolutionarily conserved transcription factor expressed in fetal and adult brain. This transcription factor is a member of the forkhead/winged-helix (FOX) family of transcription factors, and contains a FOX DNA-binding domain and a large polyglutamine tract. Members of the FOX family of transcription factors are regulators of embryogenesis. The product of this gene is thought to be required for proper development of speech and language regions of the brain during embryogenesis. Although a point mutation in this gene has been associated with the KE pedigree segregating developmental verbal dyspraxia, no association between mutations in this gene and another speech disorder, autism, has been found. Multiple alternative transcripts encoding different isoforms have been identified. [provided by RefSeq] 1580863 19913121,20628086,20634891,20649982,20858950,20923434,20950786,16984964,16538183,15998549,15948071,15877281,15737702,15685218,15653268,15108192,15056695,14997560,14702039,14701752,14555953,12876151,12853948,12721956,12690205,12655497,12524352,12477932,12192408,12189486,12060812,11894222,11586359,11358962,10880297,17033973,9770548,9225980,16407075,11872605,19490899,19304338,19240061,19058789,19018235,18987363,18413354,18316164,17999362,17999357,17330859,17196932,2332125,16344560,18029348,19490887,19608635,19797137,19907493,20185820,20237496 93986 AF467253,AF467254,AF467255,AF467256,AF467257,AF467258,AF467259,AF493430,AK131266,AK296957,AY144615,BC018016,BC126104,BC143866,BC143867,CR749236,DQ778626,NM_148899,NM_148898,NM_014491,NG_007491,AC003992,AC020606,AC073626,AF515031,AF515032,AF515033,AF515034,AF515035,AF515036,AF515037,AF515038,AF515039,AF515040,AF515041,AF515042,AF515043,AF515044,AF515045,AF515046,AF515047,AF515048,AF515049,AF515050,CH236947,CH471070,AF086040,AF337817,AF454830,AF467252,AC074000,AC092148,AC092606,AI369947,DA400243,NM_001172766,NM_001172767,NM_148900,NR_033766,NR_033767 AAM60763,AAM60764,AAM60765,AAM60766,AAM60767,AAM60768,AAM60769,AAM13672,BAD18444,BAG59501,AAN60016,AAI26105,AAI43867,AAI43868,CAH18092,ABG77460,O15409,Q0PRL4,Q68DX8,Q8N6B5,Q8N6B6,Q8NFT3,AAM60762,NP_683697,NP_683696,NP_055306,AAS07399,AAS07400,AAS07502,AAN03389,AAN03390,AAN03391,AAN03392,AAN03393,AAN03394,AAN03395,AAN03396,AAN03397,AAN03398,AAN03399,AAN03400,AAN03401,AAN03402,AAN03403,AAN03404,AAN03405,AAN03406,AAN03407,AAN03408,EAL24367,EAL24368,EAL24369,EAW83479,EAW83480,EAW83481,EAW83482,EAW83483,EAW83484,EAW83485,EAW83486,AAL10762,AAM60761,ADR83376,NP_001166237,NP_001166238,NP_683698 Hs.282787 CAGH44|DKFZp686H1726|SPCH1|TNRC10 CAG repeat protein 44|OTTHUMP00000067771|forkhead box protein P2|forkhead/winged-helix transcription factor|trinucleotide repeat containing 10|trinucleotide repeat-containing gene 10 protein protein-coding 1348507 FOXP3 forkhead box P3 The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1598959,1580863 19900711,20701086,14597769,12750858,12477932,12296863,11768393,11137993,11137992,11120765,11076863,10677306,8889548,20930173,21091665,17445472,20427269,20476861,20554955,20462637,20403730,20416210,18354202,15674359,14671208,16652169,16873067,16920951,11483607,11138001,15466453,16903909,15652505,19569243,19513564,19470254,19464196,19439651,19424039,19408243,19383912,19364305,19363449,19358983,19328914,19283780,19276356,19273860,19264985,19264232,19258923,19255331,19255314,19242793,19237575,19203731,19201288,19199536,19192224,19178794,19168733,19155519,19150256,19141582,19136904,19132983,19125672,19124747,19120312,19108017,19104431,19096978,19089920,19085184,19039775,19034005,19022313,18973208,18951619,18941119,18924611,18836525,18829063,18825388,18818377,18802341,18794055,18769452,18690669,18681861,18667728,18665940,18641304,18641303,18628982,18606654,18579608,18544681,18533240,18510697,18510637,18496979,18434325,18430198,18424697,18413770,18413409,18412171,18395862,18368049,17309822,17299718,17289884,17286616,17262084,17230494,17216339,17183612,17175222,17161353,17154262,17033038,17028180,16996248,16956389,16955142,16901927,16881731,16825494,16818738,16764698,16741580,16728694,16652285,16645171,16617117,16596204,16583400,16574699,16557241,16551363,16517728,16493082,16410445,16368541,16344560,16339919,16339542,16322292,16278306,16211090,16091206,16003241,15972448,15952173,15790681,17311282,15772651,18331599,18324310,18317533,18304876,18294387,18286169,18279718,18270368,18270250,18261176,18246047,18240282,18231910,18178814,18173798,18171284,18162042,18156149,18155891,18092263,18089323,18047933,18034969,18024321,18008005,17975141,17970785,17954183,17932340,17921346,17916446,17878390,17851585,17804750,17713426,17712998,17712989,17706604,17703412,17694575,17666212,17644307,17641056,17615291,17612516,17589345,17574040,17570480,17565321,17526924,17508019,17463169,17418529,17414718,17414320,17393103,17389235,17378693,17377532,17360565,17329235,17327427,15620457,15489334,15374887,15246158,15220219,15172973,15100250,14997560,20404810,20412707,20412712,17903368,19902430,19917773,19940860,19941313,19952070,19953886,19956618,19957514,19996091,19996930,20005366,20015215,20028375,20032994,20075077,20087581,20100010,20109747,20147963,20150173,20237496,20306694,20398921,20427770,20477811,20503287,19900843,17712427,18394345,18844067,19111574,19189134,19373655,19392991,19394278,19419438,19536194,19542249,19545671,19564342,19568423,19577568,19596013,19604349,19614769,19628330,19639723,19641188,19641607,19648226,19648277,19648312,19650850,19651619,19661482,19664391,19666573,19667946,19673890,19679154,19714314,19738030,19739430,19751272,19752528,19787238,19798683,19800578,19808652,19845758,19849846,19856313,19875613,19880293,19674197,20668701,20920773,20209161,20224778,20688398,20142839,20537998,19958642,20498355,20498359,20487644,20522244,20599261,20654176,20676092,20677152,20726328,19696312,20709600,20880066,20933283,20942809,21078762,21085187 1598959 50943 NM_001114377,NM_014009,NG_007392,AF235097,CH471224,AF277993,AJ005891,AK292052,AK299988,BC113401,BC113403,BC143785,BC143786,DB342786,DQ010327,EF534714,EU855812,GN344065 ADR82986,NP_001107849,NP_054728,EAW50671,EAW50672,EAW50673,AAG53607,CAA06748,BAF84741,BAG61809,AAI13402,AAI13404,AAI43786,AAI43787,AAY27088,ABQ15210,ACJ46653,Q9BZS1,AAI11854,CAY55968 Hs.247700 AIID|DIETER|IPEX|JM2|MGC141961|MGC141963|PIDX|XPID FOXP3delta7|OTTHUMP00000025833|forkhead box protein P3|immune dysregulation, polyendocrinopathy, enteropathy, X-linked|immunodeficiency, polyendocrinopathy, enteropathy, X-linked|scurfin protein-coding 1322820 FOXP4 forkhead box P4 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. 737633,1580863,1582564 18322169,17567994,16952980,15492844,15489334,14702039,14701752,14516685,12818433,12617805,12477932,18029348,20237496,19913121,20628086,20676098 737633,1582564 116113 BC013030,BC016874,BC034931,BC040962,BC052803,CR612831,DQ656018,NM_138457,NM_001012427,AL139331,CH471081,AB080747,AK094912,AK098227,AL832437,AW450805,BC009628,NM_001012426 AAH13030,AAH16874,AAH34931,AAH40962,AAH52803,Q69YN9,Q7Z7F8,Q8IVH2,Q8IW55,Q8N4A5,Q96AP5,ABZ92377,NP_001012426,NP_612466,NP_001012427,CAH72540,CAH72541,CAH72542,EAX04047,EAX04048,EAX04049,EAX04050,BAC53809,CAH10652 Hs.131436 FLJ40908|FLJ44184|hFKHLA OTTHUMP00000043536|OTTHUMP00000203950|fork head-related protein like A|fork head-related protein-like A|forkhead box protein P4|winged-helix repressor FOXP4 protein-coding 732997 FOXQ1 forkhead box Q1 FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM] 1580863 19533653,15489334,12477932,12011061,11747606,8889548,11309849,20145154,20686608 94234 NM_033260,AF153341,AF225950,AL499606,CH471087,BC053850,BM980542,BU566731 NP_150285,AAF75586,AAK00639,EAW55070,AAH53850,Q9C009 Hs.591352 HFH1 HFH-1|HNF-3/forkhead-like protein 1|forkhead box protein Q1|hepatocyte nuclear factor 3 forkhead homolog 1|hnf-3/forkhead homolog-1|winged helix/forkhead transcription factor protein-coding 1320240 FOXR1 forkhead box R1 This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq] 15492844,15489334,15067358,12477932 283150 NM_181721,AP003392,AP004609,EF444979,AB094092,BC028191,BC038969,BC125040 NP_859072,ACA05993,BAC76046,AAH28191,AAH38969,AAI25041,Q08AS8,Q6PIV2 Hs.116679 DLNB13|FOXN5|MGC149486 forkhead box R1 variant 1|forkhead box protein N5|forkhead box protein R1 protein-coding 1352257 FOXR2 forkhead box R2 15489334,15202027,15202009,12477932 139628 NM_198451,AL159987,BC012934,NG_021325 NP_940853,AAH12934,Q6PJQ5,ABZ92413 Hs.364260 FOXN6|MGC21658 OTTHUMP00000217953|forkhead box protein N6|forkhead box protein R2 protein-coding 1604612 FOXRED1 FAD-dependent oxidoreductase domain containing 1 19913121,20628086,20877624,20818383,15231747,11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863,10497265,16344560,16582907,20858599 55572 NM_017547,AP001318,CH471065,AF103801,AF447877,AK023987,AK126067,AK295267,AK295428,AK298010,AK298807,AK302039,BC002910,NG_028029,AL136923,BC013902,CR605186,CR612300,CR613695,CR618832,CR624638,DA056004,NR_037647,NR_037648 NP_060017,EAW67681,EAW67682,EAW67683,AAF02421,AAQ04652,BAG51246,BAG58254,BAG58371,BAG60314,BAG60942,BAG63433,CAB66857,AAH02910,AAH13902,Q96CU9,CAL38585 Hs.317190 FP634|H17 FAD-dependent oxidoreductase domain-containing protein 1 protein-coding 1602317 FOXRED2 FAD-dependent oxidoreductase domain containing 2 16344560,15461802,14702039,12878157,12477932,9373149,8125298,19706418 80020 NM_001102371,NM_024955,AL022313,CH471095,AK025714,AK026975,AK091053,AK225347,AK315555,AU279706,BC015726,BC027716,BC040351,BG054783,CR456444,CR598278,DA409026 NP_001095841,NP_079231,CAI19228,CAQ06701,CAQ06702,EAW60105,EAW60106,EAW60107,EAW60108,BAB15227,BAB15610,BAG52270,BAG37931,AAH15726,AAH27716,AAH40351,CAG30330,Q8IWF2 Hs.387601 ERFAD|FLJ23322|FLJ33734 FAD-dependent oxidoreductase domain-containing protein 2|endoplasmic reticulum flavoprotein associated with degradation protein-coding 1321722 FOXS1 forkhead box S1 The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq] 1580863 9325056,17062144,16189514,15489334,11780052,12477932 2307 NM_004118,AL160175,CH471077,AF042831,BC013408,BT009768 NP_004109,CAI12817,EAW76413,AAC15420,AAH13408,AAP88770,O43638,ABM87104,ABW03842 Hs.516971 FKHL18|FREAC10|MGC4544 FREAC-10|forkhead box protein S1|forkhead-like 18 protein|forkhead-related activator 10|forkhead-related transcription factor 10|forkhead-related transcription factor FREAC-10 protein-coding 1346571 FPGS folylpolyglutamate synthase This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. While several transcript variants may exist for this gene, the full-length natures of only two have been biologically validated to date. These two variants encode distinct isoforms. [provided by RefSeq] 1580863 20877624,16169100,7721888,1409616,19161160,19131550,19093297,19016697,18842806,18830263,18672898,18381794,17891500,17875718,17286537,17119116,16707018,16122883,14702039,14676127,12663051,12477932,11309345,10964921,10777604,9312158,8662720,8521387,6934068,3828320,20651609,19636555,19841321,20037791,20453000 2356 NG_023245,NM_001018078,AL162586,AY007209,CH471090,U14939,U24253,U40868,AK056920,AK295309,AK315523,AY007210,AY007211,AY007212,BC007121,BC009901,BC064393,BE302497,BF345926,BT006639,NM_004957,CR589995,CR620207,M98045 NP_004948,NP_001018088,CAI39769,CAI39770,CAI39771,CAI39772,CAI39773,AAL08404,AAL08405,EAW87698,EAW87699,EAW87700,EAW87701,AAA85815,AAC13871,AAA87568,BAG51826,BAH12029,BAG37904,AAL08406,AAL08407,AAH64393,AAP35285,AAA35852,Q05932,Q5JU19,Q5JU21,Q96DJ6,Q96DJ7,Q96G81,Q96LE3,Q96LE4 Hs.335084 OTTHUMP00000022203|OTTHUMP00000022204|folylpoly-gamma-glutamate synthetase|folylpolyglutamate synthase, mitochondrial|folylpolyglutamate synthetase|tetrahydrofolate synthase|tetrahydrofolylpolyglutamate synthase protein-coding 1342569 FPGT fucose-1-phosphate guanylyltransferase L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. [provided by RefSeq] 1302737,1580863 9804772,16582493,16185085,16086588,15489334,12477932,9373149,8125298 1302737 8790 NM_003838,AC098692,AF017446,CH471059,AF017445,AK223254,AK294948,AK299468,AK304490,BC020720,BC032308,CR743704,AI025848,NM_001199328,NM_001199329 NP_003829,AAC82511,EAX06417,AAC73005,BAD96974,BAG58023,BAG61434,BAG65299,AAH20720,AAH32308,O14772,Q53FM8,NP_001186257,NP_001186258 Hs.480085 GFPP GDP-L-fucose diphosphorylase|GDP-L-fucose pyrophosphorylase|GDP-beta-L-fucose pyrophosphorylase|fucose-1-phosphate guanyltransferase|fucose-1-phosphate guanylyltransferase protein-coding 1322039 FPR1 formyl peptide receptor 1 1580863 15195697,12218158,10857861,10823817,10889468,10882119,10861041,10820279,2161213,19254133,19167353,19037090,18952127,18253729,18060741,18056353,17927965,17692291,17452560,17442310,17267694,17234990,16953235,16675446,16530386,16253958,16114510,16038804,16002663,15928303,15866865,15661400,15625007,15489334,15258259,15187149,15057824,12902510,12595898,12565836,12477932,12424254,12410796,11860029,11559706,10753626,10514456,8663057,8228254,8224916,7947984,7945424,7836371,6129903,2176894,1712023,1612600,1445895,1373134,1322204,2541200,11023526,2834384,18577758,19414538,19530962,19722801,19843937,19892918,20019777,20056178,20197768,20237496 2357 NM_002029,AC018755,AY301273,CH471135,L10820,AK314935,BC005315,BQ016000,BT007429,CB993626,CR617277,M37128,M60626,M60627,S49810,NG_023426,NM_001193306 NP_002020,AAF87842,AAP58403,EAW72040,EAW72041,EAW72042,AAA16863,BAG37441,AAH05315,AAP36097,AAA36362,AAA35846,AAA35847,AAD14906,P21462,NP_001180235 Hs.753 FMLP|FPR N-formyl peptide receptor|N-formylpeptide chemoattractant receptor|fMLP receptor|fMet-Leu-Phe receptor protein-coding 1316624 FPR2 formyl peptide receptor 2 1580863 16754659,20177146,17727628,9054386,1374236,19282028,18768891,18652801,18583575,18174366,17918787,17692291,17687636,17651798,17460114,17403678,17234990,17184966,17015746,16973129,16493055,15829413,15809093,15670157,15625007,15489334,15465011,15224191,15188355,15187149,15057824,14662886,12902510,12477932,12456400,12410796,12393391,12377951,11063592,11015447,10748237,9547339,9151906,8198572,7505609,1612600,1511907,1373134,10438703,10872839,10964542,20542250,20642210,19381066,19553323,19751275,19796867,19811292,19843937,20237496,8006586 2358 AAB23104 NM_001005738,NM_001462,AC018755,AY225226,CH471135,AF054013,AK290557,BC029125,BC071722,BM922150,D10922,M76672,M84562,M88107,U81501,X63819 NP_001005738,NP_001453,AAF87844,AAO67711,EAW72043,EAW72044,AAC13684,BAF83246,AAH29125,AAH71722,BAA01720,AAA58481,AAA52473,AAA60070,AAB51133,CAA45319,AAB23104,P25090,ABM83031,ABM86225 Hs.99855 ALXR|FMLP-R-II|FMLPX|FPR2A|FPRH1|FPRH2|FPRL1|HM63|LXA4R FMLP-R-I|FMLP-related receptor I|LXA4 receptor|N-formyl peptide receptor 2|RFP|formyl peptide receptor-like 1|lipoxin A4 receptor (formyl peptide receptor related) protein-coding 1350649 FPR3 formyl peptide receptor 3 1580863 18577758,16002663,15187149,8198572,19342677,17577578,15489334,15465011,14702039,12477932,12410796,12223529,11285256,1612600,19843937,20237496 2359 NM_002030,AC005946,AC018755,AY262690,CH471135,L14061,AK123030,AK292541,BC059388,BC069070,BC069593,BC069812,CB996360,M76673 NP_002021,AAC72102,AAP20654,EAW72045,AAA52474,BAF85230,AAH59388,AAH69070,AAH69593,AAH69812,AAA58482,P25089,Q6L5J4 Hs.445466 FML2_HUMAN|FMLPY|FPRH1|FPRH2|FPRL2|RMLP-R-I FMLP-R-II|FMLP-related receptor II|N-formyl peptide receptor 3|formyl peptide receptor-like 2 protein-coding 1347403 FRA10A fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) 2431 1349447 FRA10B fragile site, BrdU type, rare, fra(10)(q25.2) 9660961 2432 AF053508 1352804 FRA10C fragile site, BrdU type, common, fra(10)(q21) 2433 1342818 FRA10D fragile site, aphidicolin type, common, fra(10)(q22.1) 2434 1350799 FRA10E fragile site, aphidicolin type, common, fra(10)(q25.2) 2435 1354211 FRA10F fragile site, aphidicolin type, common, fra(10)(q26.1) 2436 1344015 FRA10G fragile site, aphidicolin type, common, fra(10)(q11.2) 2437 1347159 FRA11A fragile site, folic acid type, rare, fra(11)(q13.3) 2438 1344640 FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) 2439 1343180 FRA11C fragile site, aphidicolin type, common, fra(11)(p15.1) 2440 1352566 FRA11D fragile site, aphidicolin type, common, fra(11)(p14.2) 2441 1351163 FRA11E fragile site, aphidicolin type, common, fra(11)(p13) 2442 1345590 FRA11F fragile site, aphidicolin type, common, fra(11)(q14.2) 2443 1344099 FRA11G fragile site, aphidicolin type, common, fra(11)(q23.3) 2445 1353526 FRA11H fragile site, aphidicolin type, common, fra(11)(q13) 2446 1352857 FRA11I fragile site, distamycin A type, rare, fra(11)(p15.1) 2447 1352275 FRA12A fragile site, folic acid type, rare, fra(12)(q13.1) 2448 1349589 FRA12B fragile site, aphidicolin type, common, fra(12)(q21.3) 2449 1345607 FRA12C fragile site, BrdU type, rare, fra(12)(q24.2) 2450 1342894 FRA12D fragile site, folic acid type, rare, fra(12)(q24.13) 2451 1351364 FRA12E fragile site, aphidicolin type, common, fra(12)(q24) 2452 1352621 FRA13A fragile site, aphidicolin type, common, fra(13)(q13.2) 2453 1343327 FRA13B fragile site, BrdU type, common, fra(13)(q21) 2454 1345482 FRA13C fragile site, aphidicolin type, common, fra(13)(q21.2) 2455 1351244 FRA13D fragile site, aphidicolin type, common, fra(13)(q32) 2456 1352797 FRA14B fragile site, aphidicolin type, common, fra(14)(q23) 2457 1342515 FRA14C fragile site, aphidicolin type, common, fra(14)(q24.1) 2458 1349323 FRA15A fragile site, aphidicolin type, common, fra(15)(q22) 2459 1350433 FRA16A fragile site, folic acid type, rare, fra(16)(p13.11) 2460 1353014 FRA16B fragile site, distamycin A type, rare, fra(16)(q22.1) 2461 1345282 FRA16C fragile site, aphidicolin type, common, fra(16)(q22.1) 2462 1347785 FRA16D fragile site, aphidicolin type, common, fra(16)(q23.2) 2463 1351731 FRA16E fragile site, distamycin A type, rare, fra(16)(p12.1) 2464 1348627 FRA17A fragile site, distamycin A type, rare, fra(17)(p12) 2465 1345131 FRA17B fragile site, aphidicolin type, common, fra(17)(q23.1) 2466 1342689 FRA18A fragile site, aphidicolin type, common, fra(18)(q12.2) 2467 1348425 FRA18B fragile site, aphidicolin type, common, fra(18)(q21.3) 2468 1348856 FRA18C fragile site, folic acid type, rare, fra(18)(q22.1) 116710 1345549 FRA19A fragile site, 5-azacytidine type, common, fra(19)(q13) 4077049,2579891 2469 1349098 FRA19B fragile site, folic acid type, rare, fra(19)(p13) 2470 1349781 FRA1A fragile site, aphidicolin type, common, fra(1)(p36) 2360 1353010 FRA1B fragile site, aphidicolin type, common, fra(1)(p32) 2361 1344738 FRA1C fragile site, aphidicolin type, common, fra(1)(p31.2) 2362 1348098 FRA1D fragile site, aphidicolin type, common, fra(1)(p22) 2363 1351376 FRA1E fragile site, aphidicolin type, common, fra(1)(p21.2) 2364 1342830 FRA1F fragile site, aphidicolin type, common, fra(1)(q21) 2365 1354217 FRA1G fragile site, aphidicolin type, common, fra(1)(q25.1) 2366 1345516 FRA1H fragile site, 5-azacytidine type, common, fra(1)(q42) 9763679 2367 1348788 FRA1I fragile site, aphidicolin type, common, fra(1)(q44) 2368 1352507 FRA1J fragile site, 5-azacytidine type, common, fra(1)(q12) 2369 1343534 FRA1K fragile site, aphidicolin type, common, fra(1)(q31) 2370 1346848 FRA1L fragile site, aphidicolin type, common, fra(1)(p31) 2371 1350410 FRA1M fragile site, folic acid type, rare, fra(1)(p21.3) 1865478 2372 1346089 FRA20A fragile site, folic acid type, rare, fra(20)(p11.23) 2471 1343465 FRA20B fragile site, aphidicolin type, common, fra(20)(p12.2) 2472 1347434 FRA22A fragile site, folic acid type, rare, fra(22)(q13) 2473 1345115 FRA22B fragile site, aphidicolin type, common, fra(22)(q12.2) 2474 1353659 FRA2A fragile site, folic acid type, rare, fra(2)(q11.2) 2373 1350381 FRA2B fragile site, folic acid type, rare, fra(2)(q13) 2374 1347807 FRA2C fragile site, aphidicolin type, common, fra(2)(p24.2) 2375 1345203 FRA2D fragile site, aphidicolin type, common, fra(2)(p16.2) 2376 1351711 FRA2E fragile site, aphidicolin type, common, fra(2)(p13) 2377 1349009 FRA2F fragile site, aphidicolin type, common, fra(2)(q21.3) 2378 1346489 FRA2G fragile site, aphidicolin type, common, fra(2)(q31) 2379 1343904 FRA2H fragile site, aphidicolin type, common, fra(2)(q32.1) 2380 1342749 FRA2I fragile site, aphidicolin type, common, fra(2)(q33) 2381 1352028 FRA2J fragile site, aphidicolin type, common, fra(2)(q37.3) 2382 1349565 FRA2K fragile site, folic acid type, rare, fra(2)(q22.3) 2383 1345134 FRA3A fragile site, aphidicolin type, common, fra(3)(p24.2) 2384 1346932 FRA3B fragile site, aphidicolin type, common, fra(3)(p14.2) 3864602 1344463 FRA3C fragile site, aphidicolin type, common, fra(3)(q27) 2386 1346264 FRA3D fragile site, aphidicolin type, common, fra(3)(q25) 2387 1344517 FRA4A fragile site, aphidicolin type, common, fra(4)(p16.1) 2388 1346962 FRA4B fragile site, BrdU type, common, fra(4)(q12) 2389 1349862 FRA4C fragile site, aphidicolin type, common, fra(4)(q31.1) 2390 1352430 FRA4D fragile site, aphidicolin type, common, fra(4)(p15) 2391 1350839 FRA4E fragile site, unclassified, common, fra(4)(q27) 2392 1349065 FRA5A fragile site, BrdU type, common, fra(5)(p13) 2393 1351685 FRA5B fragile site, BrdU type, common, fra(5)(q15) 2394 1347830 FRA5C fragile site, aphidicolin type, common, fra(5)(q31.1) 2396 1348925 FRA5D fragile site, aphidicolin type, common, fra(5)(q15) 2397 1353291 FRA5E fragile site, aphidicolin type, common, fra(5)(p14) 2398 1345413 FRA5F fragile site, aphidicolin type, common, fra(5)(q21) 2399 1351475 FRA5G fragile site, folic acid type, rare, fra(5)(q35) 2213847 2400 1350567 FRA6A fragile site, folic acid type, rare, fra(6)(p23) 2401 1347907 FRA6B fragile site, aphidicolin type, common, fra(6)(p25.1) 2402 1346301 FRA6C fragile site, aphidicolin type, common, fra(6)(p22.2) 2403 1343775 FRA6D fragile site, BrdU type, common, fra(6)(q13) 2404 1348809 FRA6E fragile site, aphidicolin type, common, fra(6)(q26) 2405 1346456 FRA6F fragile site, aphidicolin type, common, fra(6)(q21) 2406 1345202 FRA6G fragile site, aphidicolin type, common, fra(6)(q15) 2407 1352389 FRA7A fragile site, folic acid type, rare, fra(7)(p11.2) 2408 1342909 FRA7B fragile site, aphidicolin type, common, fra(7)(p22) 2409 1351450 FRA7C fragile site, aphidicolin type, common, fra(7)(p14.2) 2410 1354027 FRA7D fragile site, aphidicolin type, common, fra(7)(p13) 2411 1344601 FRA7E fragile site, aphidicolin type, common, fra(7)(q21.2) 2412 1347078 FRA7F fragile site, aphidicolin type, common, fra(7)(q22) 2413 1347091 FRA7G fragile site, aphidicolin type, common, fra(7)(q31.2) 2414 1352826 FRA7H fragile site, aphidicolin type, common, fra(7)(q32.3) 2415 1342938 FRA7I fragile site, aphidicolin type, common, fra(7)(q36) 2416 1345597 FRA7J fragile site, aphidicolin type, common, fra(7)(q11) 2417 1350581 FRA8A fragile site, folic acid type, rare, fra(8)(q22.3) 2418 1347164 FRA8B fragile site, aphidicolin type, common, fra(8)(q22.1) 2419 1346653 FRA8C fragile site, aphidicolin type, common, fra(8)(q24.1) 2421 1343410 FRA8D fragile site, aphidicolin type, common, fra(8)(q24.3) 2422 1347732 FRA8E fragile site, distamycin A type, rare, fra(8)(q24.1) 2423 1345060 FRA8F fragile site, unclassified, rare, fra(8)(q13) 2424 1345075 FRA9A fragile site, folic acid type, rare, fra(9)(p21) 2425 1354504 FRA9B fragile site, folic acid type, rare, fra(9)(q32) 2426 1350706 FRA9C fragile site, BrdU type, common, fra(9)(p21) 2427 1347894 FRA9D fragile site, aphidicolin type, common, fra(9)(q22.1) 2428 1343341 FRA9E fragile site, aphidicolin type, common, fra(9)(q32) 2429 1352755 FRA9F fragile site, 5-azacytidine type, common, fra(9)(q12) 2430 1315178 FRAS1 Fraser syndrome 1 The FRAS1 gene encodes a putative extracellular matrix (ECM) protein and is mutated in Fraser syndrome (MIM 219000) (McGregor et al., 2003 [PubMed 12766769]).[supplied by OMIM] 1598960 18671281,18155042,17654118,15489334,14702039,12766770,12766769,12477932,10819331,3118036,20602751,20634891,16344560,19896111 1598960 80144 AC093652,AC093886,AC093897,AC104808,AC131945,AJ512501,CH471057,AB040933,AK025684,AK027833,AK092082,AK096838,AL157471,AL831853,AL833581,BC009254,BC020192,BC052281,BC064487,BC094853,BC131820,BC131821,BX647420,BX647949,CR627393,NM_025074,DA725113,DA881824,NG_015812,NM_001166133 Q69YV4,Q6AI26,Q86XX4,NP_079350,AAY41027,CAD54734,EAX05821,BAA96024,BAB15216,BAB55399,CAH10691,CAD38554,AAH20192,AAH52281,AAH64487,AAI31821,AAI31822,CAH10488,Q05CW8,Q4W596,NP_001159605 Hs.369448,Hs.721814 DKFZp686I05113|DKFZp686P08111|FLJ14927|FLJ22031|KIAA1500 extracellular matrix protein FRAS1 protein-coding 1604648 FRAT1 frequently rearranged in advanced T-cell lymphomas The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq] 18498136,16982607,16479254,15489334,15164054,12805274,12556519,12477932,12095675,11894125,11738041,11445844,10428961,9034327,16385451,20096670 10023 NM_005479,AL355490,AY271248,CH471066,AB074890,AK307245,BC034476,BE041458,U58975 NP_005470,CAI40773,EAW49950,EAW49951,BAB86352,AAH34476,AAB97096,Q92837 Hs.126057 FLJ97193 FRAT-1|frequently rearranged in advanced T-cell lymphomas 1|proto-oncogene FRAT1 protein-coding 1350986 FRAT2 frequently rearranged in advanced T-cell lymphomas 2 The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq] 1580863 20613673,9635432,17433504,15522877,15489334,15164054,12477932,12095675,11738041,11237732,8889548 23401 NM_012083,AL355490,CH471066,AB045118,AF062739,BC020165,BT009770,BU675503 NP_036215,CAI40774,EAW49949,BAB39165,AAC39786,AAH20165,AAP88772,O75474,Q53XP8,ABM86483 Hs.140720 MGC10562 FRAT-2|GSK-3 binding protein FRAT2|GSK-3-binding protein FRAT2 protein-coding 1351085 FRAXA fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation) 2477 1347676 FRAXB fragile site, aphidicolin type, common, fra(X)(p22.31) 2478 1344516 FRAXC fragile site, aphidicolin type, common, fra(X)(q22.1) 2479 1353126 FRAXD fragile site, aphidicolin type, common, fra(X)(q27.2) 2480 1347191 FRAXE fragile site, folic acid type, rare, fra(X)(q28) 1605195 2481 1343853 FRAXF fragile site, folic acid type, rare, fra(X)(q28) 8499907,7874164 2482 L35600 1345286 FRCL1 frc, fringe-like 1 (Drosophila) 387073 1351561 FRDA2 Friedreich ataxia 2 10735274,11523563 2420 1351313 FRDAP Friedreich ataxia pseudogene 122942 AL049832,NG_002485,AC007955 pseudo 1345384 FREM1 FRAS1 related extracellular matrix 1 15878328,15489334,15345741,15164053,15146197,14702039,12838346,12477932,8889548,20562859,19732862,19893584,19940113,20379614 158326 AK054690,NM_144966,AL354672,AL390732,AL512643,BX648240,CH471071,AB160987,AK058190,BC031064,BU677942,BX537574,BX641104,CN425447,DN992860,NG_017005,NM_001177704 NP_659403,CAX14920,CAH73848,EAW58688,EAW58689,EAW58690,BAD89015,BAB71709,AAH31064,CAE46048,Q5H8C1,AAI72226,NP_001171175 Hs.50850 BNAR|C9orf143|C9orf145|C9orf154|FLJ25461|QBRICK|RP11-439N12.3|TILRR FRAS1-related extracellular matrix protein 1|OTTHUMP00000207736|extracellular matrix protein QBRICK protein-coding 1347992 FREM2 FRAS1 related extracellular matrix protein 2 This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq] 18671281,18203166,16880404,16335952,15838507,15345741,15146197,15057823,14702039,12477932,10737800 341640 NM_207361,NG_008125,AC017111,AL354819,AL590007,CH471075,AK127571,AK127633,AL708377,BG991015,BN000687,BX538150,BX538304,BX640686,CN291155,CR933724 NP_997244,CAI16761,CAI12790,EAX08607,EAX08608,BAC87040,CAH56764,CAD98036,CAD98088,CAE45813,CAI46253,Q5SZK8,AAI72230 Hs.253994 DKFZp686J0811|DKFZp781I048|KIAA1074 ECM3 homolog|FRAS1-related extracellular matrix protein 2 protein-coding 1343703 FREM3 FRAS1 related extracellular matrix 3 15815621,15345741 166752 AC139713,BE223071,AI184955,AW953229,DN831271,DR007885,DR731220,NM_001168235,R44783 P0C091,NP_001161707 Hs.252714 FRAS1-related extracellular matrix protein 3 protein-coding 68618 FREQ frequenin homolog (Drosophila) This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20479890,16189514,15489334,15164053,14760944,14726528,14702039,14607934,14512421,12928444,12783849,12496348,12477932,12351722,12244129,12006624,11836243,11825672,11606724,11526106,11115393,8889548,7488079,18029348,11092894,19091302,17672918,16837555,16402081,16344560,20468064 23413 NM_014286,NM_001128826,AL360004,CH471090,AF134479,AF186409,AI521726,AI564128,AI768193,AK023889,AK024709,AL161981,BC004856,BC008698,BM011362,BQ880305,BU150740,CF453730,CK301145,CR597605,CR612062,DA092531,X84048 NP_055101,NP_001122298,CAI16951,EAW87926,EAW87927,AAP97256,AAF01804,AAH04856,CAA58867,P62166 Hs.642946,Hs.714951 DKFZp761L1223|FLUP|FREQ|NCS-1|NCS1 frequenin homolog|frequenin-like protein|frequenin-like ubiquitous protein|neuronal calcium sensor 1 protein-coding 1320772 FRG1 FSHD region gene 1 This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq] 1580863 17207965,19607661,19097195,18852887,16341202,15635413,15489334,15060122,12665801,12477932,11991638,10512680,9132141,8733123,19615732 2483 NM_004477,NG_008142,AF146191,CH471056,AA749391,AK291890,BC053997,BG426031,L76159 ADQ32541,NP_004468,AAD46768,EAX04600,BAF84579,AAH53997,AAA95939,Q14331 Hs.203772 FRG1A|FSG1 FSHD region gene 1 protein|facioscapulohumeral muscular dystrophy region gene-1|protein FRG1 protein-coding 1606665 FRG1B FSHD region gene 1 family, member B 14702039,12477932,11780052,19586940 284802 NR_003579,AL441988,CH471240,BC062724,BC062743,BC095491 CAC27358,EAW80443,EAW80444,Q9BZ01 Hs.653099 C20orf80|MGC72104|bA348I14.2 pseudo 1606060 FRG2 FSHD region gene 2 11829491,20975055,15520407,12477932,12176321 448831 NM_001005217,AF146191,AY714545,BC144572 NP_001005217,AAU14220,AAI44573,Q64ET8 Hs.626907 FRG2A FSHD region gene 2 protein|OTTHUMP00000218072|protein FRG2 protein-coding 1642830 FRG2B FSHD region gene 2 family, member B 15520407,15164054,11829491 441581 NM_001080998,AL731696,AY028079,AY744466 NP_001074467,CAH69901,AAK21977,AAV30885,Q96QU4 Hs.690471 FSHD region gene 2 protein family member B|HSA10-FRG2|OTTHUMP00000020815|protein FRG2-like-1 protein-coding 2311729 FRG2C FSHD region gene 2 family, member C 16641997,15520407,11245978 100288801 NM_001124759,AC108724,CH471110 NP_001118231,EAW68900,A6NGY1 Hs.722640 FSHD region gene 2 protein family member C|HSA3-FRG2|protein FRG2-like-2 protein-coding 734122 FRK fyn-related kinase The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq] 1580863 20800603,7510261,7664264,7696183,19345329,15951569,15489334,15082191,12750000,12725532,12569567,12477932,8099900 2444 NM_002031,AL121963,AL357141,CH471051,AK302264,AK313314,BC012916,U00803,U22322 NP_002022,CAB87592,CAI16469,EAW48241,BAG63611,BAG36119,AAH12916,AAA18284,AAC50116,P42685,ABM85569 Hs.89426 GTK|PTK5|RAK PTK5 protein tyrosine kinase 5|nuclear tyrosine protein kinase RAK|protein-tyrosine kinase 5|tyrosine-protein kinase FRK protein-coding 1352660 FRMD1 FERM domain containing 1 1580863 14702039,14574404,12477932 79981 BC137144,NM_024919,NM_001122841,AL589733,CH471051,AK026268,AK074110,AK097179,AK097579,AK125963,AL133077,AK303194,AK303407,AK316478 AAI37145,Q5SZU5,Q8N878,Q8TEL2,Q9H645,NP_079195,NP_001116313,CAI12329,CAI12331,EAW47471,EAW47472,BAB15421,BAB84936,BAC04972,BAG53488,CAB61397,BAH13916,BAH13955,BAH14849 Hs.266746 DKFZp434O0117|FLJ00181|FLJ22615|FLJ40260|bA164L23.1 FERM domain-containing protein 1 protein-coding 1312459 FRMD3 FERM domain containing 3 Protein 4.1 of red blood cells, or 4.1R (EPB41; MIM 130500), is a multifunctional protein essential for maintaining erythrocyte shape and membrane mechanical properties. The protein 4.1 family comprises a group of structural proteins that includes, in addition to 4.1R, 4.1G (general type; MIM 603237), 4.1B (brain type; MIM 605331), 4.1N (neuron type; MIM 602879), and 4.1O (ovary type).[supplied by OMIM] 737633 17260017,14702039,12601556,12477932,9373149,8125298,19252134,20379614,20460425 737633 257019 NM_174938,AL137847,AL161786,AL353641,AL450026,CH471089,AK094281,AK223597,AY137774,BC023560,BC037253,BC041376,BX647549,EF560742,AK297722 NP_777598,CAI40734,CAI40735,CAI40736,CAM19673,CAH72749,CAH72750,CAM17460,CAM19643,CAM19644,EAW62647,EAW62648,EAW62649,EAW62650,EAW62651,BAC04321,BAD97317,AAN52119,AAH23560,AAH37253,ABQ59052,A2A2Y4,ACT64586,BAG60076 Hs.709357 4.1O|EPB41L4O|EPB41LO|MGC20553|P410|RP11-439K3.2 FERM domain-containing protein 3|OTTHUMP00000021540|band 4.1-like protein 4|band 4.1-like protein 4O|ovary type protein 4.1|protein 4.1O protein-coding 1350302 FRMD4A FERM domain containing 4A 737633 14702039,12477932,10718198,16385451,17643375,20031603,20379614 737633 55691 AK094045,AK289693,BC018891,BC151244,NM_018027,AC044781,AC069025,AL157392,AL157896,AL365495,AL512660,AL607075,CH471072,AB037715,AK001072,AK057828,AK093978 BAF82382,AAI51245,Q5T378,Q9NW91,Q9P2Q2,NP_060497,CAI13127,CAI13129,CAI13296,CAI13299,EAW86275,EAW86276,EAW86277,BAA92532,BAA91492 Hs.330463,Hs.656573 FLJ10210|FRMD4|KIAA1294|bA295P9.4 FERM domain-containing protein 4A|OTTHUMP00000019149|OTTHUMP00000019151 protein-coding 1348430 FRMD4B FERM domain containing 4B 1580863 19913121,20628086,20718813,20124441,20190752,20379614,15489334,14702039,12477932,11445584,10231032 23150 NM_015123,AC112221,AC135851,AB023230,AK000244,AK024086,AK091076,AK295045,AL110231,AL832231,BC028291,BC043396,BC057836,BC110637,CB988073,DC340455 NP_055938,BAA76857,BAG51264,BAG58096,AAH28291,AAH57836,AAI10638,Q2TB00,Q6PEW6,Q9Y2L6,AAI72315 Hs.709671 6030440G05Rik|GRSP1|KIAA1013 FERM domain-containing protein 4B|GRP1-binding protein GRSP1 protein-coding 1605911 FRMD5 FERM domain containing 5 18029348,15489334,14702039,12477932,16169070 84978 NM_032892,AC023356,AC073940,AC090513,AC090516,CH471082,AK090572,AK123018,AK290013,BC007796,BC020191,BC043486,BC053647 NP_116281,EAW77249,EAW77250,EAW77251,EAW77252,EAW77253,EAW77254,EAW77255,BAC03480,BAG53851,BAF82702,AAH53647,Q7Z6J6 Hs.578544 FLJ41022|MGC14161 FERM domain-containing protein 5|OTTHUMP00000066884 protein-coding 1347019 FRMD6 FERM domain containing 6 18029348,16341207,16189514,16137681,15489334,15324660,14702039,12508121,12477932,19668339,20171287,21116278 122786 NM_001042481,NM_152330,AL079307,AL122125,CH471078,AK021747,AK055545,AK126521,AK129995,AK315764,AL833158,AL833380,AL833661,BC020521,BC029870,BX161430,BX647239,BX647863,BX648295 NP_001035946,NP_689543,EAW65666,EAW65667,EAW65668,EAW65669,EAW65670,EAW65671,BAB70950,BAG54342,BAG38116,AAH20521,AAH29870,CAD61902,CAI46062,Q5HYC4,Q96NE9,CAI46264 Hs.434914 C14orf31|EX1|MGC17921|Willin|c14_5320 4.1 ezrin radixin moesin (FERM)-containing protein|FERM domain-containing protein 6 protein-coding 1352948 FRMD7 FERM domain containing 7 Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq] 15489334,14702039,12477932,10090899,2063919,19892780,20450309,18029348,19072571,18431453,18372314,18247295,18246032,18087240,17962394,17893669,17846367,17768376,17397053,17013395,16240070,15772651 90167 NM_194277,NG_012347,AL049792,AL109749,AL449383,CH471107,AK125336,AL161984,BC114371,FJ717411 NP_919253,CAI42080,EAX11785,BAC86135,AAI14372,ACN56448,Q6ZUT3 Hs.170776 FLJ43346|NYS|NYS1|RP6-213H19.2 FERM domain-containing protein 7|OTTHUMP00000024035|OTTHUMP00000215109|nystagmus 1, congenital protein-coding 1602672 FRMD8 FERM domain containing 8 18029348,16344560,14702039,12477932,20098747 83786 NM_031904,AP000944,CH471076,AF334946,AK056778,AK074850,AK291678,AK304363,BC014498,BC033851,BC044658,BC051695,CR608928,DA863645,DB453671 NP_114110,EAW74384,EAW74385,EAW74386,AAG50295,BAB71282,BAC11244,BAF84367,BAG65203,AAH33851,AAH44658,AAH51695,Q8N4M4,Q96MK6,Q9BZ67,ACE87478,ACE86791 Hs.578433 FKSG44|FLJ32216|FLJ90369|MGC31785 FERM domain-containing protein 8|FKSG44 protein-coding 1313132 FRMPD1 FERM and PDZ domain containing 1 1601189 18566450,17404222,12477932,10231032,20379614 1601189 22844 NM_014907,AL513165,AL591470,CH471071,AB023184,AK302739,AK302854,BC114965,BX648967 NP_055722,CAI16156,CAI12951,EAW58270,EAW58271,BAA76811,BAH13793,BAG64040,AAI14966,CAI46019,Q5SYB0 Hs.163990 FRMD2|KIAA0967|MGC138833|RP11-263I4.1 FERM and PDZ domain-containing protein 1|FERM domain-containing protein 2 protein-coding 1349524 FRMPD2 FERM and PDZ domain containing 2 This gene encodes a FERM and PDZ domain-containing protein and is located in a region of chromosome 10q which contains a segmental duplication resulting in three nearly identical regions. This copy of the gene is full-length and is in the telomeric duplicated region. The exact function of this gene is unknown; however, FERM domains often play a role in signal transduction pathways. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 12477932,17207965,16385451,19706687,20379614 143162 NM_001018071,AC013284,AC074325,CH471187,AK123038,AK131386,AK303923,AY491519,BC031614,BC040910,BC073954,CR749241,BC144636,BC144639,DC342800,NR_033178 NP_001018081,EAW93139,EAW93140,EAW93141,BAC85520,BAD18537,BAG64851,AAS79660,AAH31614,AAH73954,CAH18097,Q68DX3,AAI56409,AAI57132,ADQ32010,AAI44637,AAI44640 Hs.664786,Hs.709611 MGC178184|MGC178187|MGC35285|MGC87776|MGC87777|MGC90186|PDZD5C|PDZK4|PDZK5C FERM and PDZ domain-containing protein 2|OTTHUMP00000179094|OTTHUMP00000217275|PDZ domain containing 5C|PDZ domain-containing protein 4|PDZ domain-containing protein 5C protein-coding 1350685 FRMPD2L1 FERM and PDZ domain containing 2 like 1 This gene encodes the FRMPD2 related 1 protein and is located in a region of chromosome 10q which contains a segmental duplication resulting in three nearly identical regions. This gene is shorter than the FRMPD2 gene, and the transcript products are nearly identical to the shorter transcript variants observed for the FRMPD2 gene. It is located in the middle duplicated region. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 12477932 728798 BC137440,BC144635,BX005072,AK294650,AK315971,BC071635,BC072395,BC110798,BC137431,BC137434,BC137439,AK313659,DC315823,NR_033172 AAI37441,AAI44636,Q6IN97,BAG57825,BAH14342,AAH71635,AAH72395,AAI10799,AAI37432,AAI37435,AAI37440,BAG36413 Hs.709611,Hs.664786 FLJ78870|FLJ94239|FRMPD2L1|MGC169052|MGC169055|MGC169060|MGC169061|PDZD5A|PDZK5A|yX59F3.2 pdz domain containing 5a pseudo 1351209 FRMPD2L2 FERM and PDZ domain containing 2 like 2 This gene encodes the FRMPD2 related 2 protein and is located in a region of chromosome 10q which contains a segmental duplication resulting in three nearly identical regions. This gene is shorter than the FRMPD2 gene, and the transcript products are nearly identical to the shorter transcript variants observed for the FRMPD2 gene. It is located in the centromeric duplicated region. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 12477932 728603 AL450334,AK294650,AK315971,BC071635,BC072395,BC110798,BC137431,BC137434,BC137439,BC137440,BC144635,AK313659,NG_016240 BAG57825,BAH14342,AAH71635,AAH72395,AAI10799,AAI37432,AAI37435,AAI37440,AAI37441,AAI44636,Q6IN97,BAG36413 Hs.709611,Hs.664786 FRMPD2L2|PDZD5B|PDZK5B|bA556L1.2 pdz domain containing 5b pseudo 1601735 FRMPD3 FERM and PDZ domain containing 3 18029348,15772651,11347906 84443 AB058720,XM_042978,AL035088,AL137787 CAI42175,BAB47446,Q5JV73,XP_042978,CAI42749 Hs.496546 KIAA1817|RP5-1070B1.1 FERM and PDZ domain-containing protein 3|OTTHUMP00000023806 protein-coding 1353602 FRMPD4 FERM and PDZ domain containing 4 1580863 19913121,20628086,12477932,12421765,9205841,19118189 9758 AK289694,BC113700,BC113702,BC143746,NM_014728,AC002981,AC112499,AC112655,AC112657,AC119619,CH471074,AB002314,BX089361,NG_016419 BAA20774,BAF82383,AAI13701,AAI13703,AAI43747,Q14CM0,ADR83294,NP_055543,EAW98804 Hs.657507 KIAA0316|MGC142260|MGC142262|PDZD10|PDZK10 FERM and PDZ domain-containing protein 4|PDZ domain containing 10|PDZ domain-containing protein 10|PSD-95-interacting FERM and PDZ domain protein|PSD-95-interacting regulator of spine morphogenesis|Preso|pdz domain containing 10 protein-coding 1604148 FRRS1 ferric-chelate reductase 1 Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM] 20379614,14499595,12477932 391059 NM_001013660,AC105270,AL451051,CH471097,AK131302,BC029438 NP_001013682,EAW72988,BAD18470,Q6ZNA5,AAI56176,AAI57017 Hs.454779 SDFR2|SDR2 SDR-2|ferric-chelate reductase 1|stromal cell derived factor receptor 2 homolog|stromal cell-derived receptor 2 protein-coding 1317842 FRS2 fibroblast growth factor receptor substrate 2 1580863 9660748,9069267,7806500,9182757,10629055,16284401,19111446,19103595,18591461,18391951,18189271,17145761,16344560,15738000,15564375,15489334,15342556,12974390,12688531,12571252,12477932,12419216,12402043,12154000,11997436,11877385,11447289,11360177,11353842,11090629,10822386,10783152,10650943,10383403,10092678,9632781,8780727,8761293,11390647,12660731,19652666,9045692,20881960,21048031 10818 NM_001042555,NM_006654,AC018921,CH471054,AF036717,AK226068,AK312477,BC021562,BP217337,BP230333,BP280775,BP311537,BX647520,BX647544,DA189114,DA311708,DA762876,EU332842 NP_001036020,NP_006645,EAW97225,EAW97226,EAW97227,AAB92554,BAG35381,AAH21562,Q8WU20,ABY87531 Hs.593446 FRS2A|FRS2alpha|SNT|SNT-1|SNT1 FGFR signalling adaptor|FGFR substrate 2|FGFR-signaling adaptor SNT|fibroblast growth factor receptor substrate 2|suc1-associated neurotrophic factor target 1 protein-coding 1321005 FRS3 fibroblast growth factor receptor substrate 3 The protein encoded by this gene is a substrate for the fibroblast growth factor receptor. It is found in peripheral plasma membrane and functions in linking FGF receptor stimulation to activators of Ras. [provided by RefSeq] 1580863 20228838,8761293,19204726,16702953,15738000,15489334,15485655,15188402,15094036,14574404,12586769,12477932,11877385,11432792,10629055,10383403,9660748,16169070 10817 NM_006653,AL365205,CH471081,AF036718,BC010611,BM741175,CR457026,CR598942 NP_006644,CAI13183,CAO72056,EAX04060,AAB92555,AAH10611,CAG33307,O43559,ABM83001,ABM86194 Hs.194208 FRS2B|FRS2beta|MGC17167|SNT-2|SNT2 FGFR substrate 3|FGFR-signaling adaptor SNT2|FRS2-beta|OTTHUMP00000016383|fibroblast growth factor receptor substrate 3|suc1-associated neurotrophic factor target 2 (FGFR signalling adaptor) protein-coding 1349911 FRY furry homolog (Drosophila) 15057823,14702039,9847074,8812419,19327996,19773279,20379614 10129 NM_023037,AC000062,AC002483,AL137143,AL138692,AL445212,CH471075,Z74739,AA993094,AK091422,AK298021,AL049784,BX537670,CR621863,U50534,U57961 NP_075463,AAB46343,AAC35295,CAI12629,CAI12630,CAI13379,CAI13380,CAI40475,CAI40477,CAI40478,EAX08489,EAX08490,EAX08491,EAX08492,EAX08493,EAX08494,EAX08495,CAC94764,CAC94765,BAC03659,BAG60324,CAB42442,CAD97805,O14572,Q5JS89,Q5TBA9,Q7Z3N2,Q8NB82,Q96KW3,Q96KW4,Q99993 Hs.507669,Hs.718654 13CDNA73|214K23.2|C13orf14|CG003|bA207N4.2|bA37E23.1 WUGSC:H_2G3A.1|chromosome 13 open reading frame 14|protein furry homolog protein-coding 1352555 FRYL FRY-like 737633 17353931,18195096,17854671,16061630,12477932,10048485,9847074,16189514 737633 285527 BC021803,BC040987,BC050336,CR627228,DQ299938,DQ299939,DQ299940,U80082,NM_015030,AC068037,AC096952,AB020633,AK025034,AK127307,AK128452,AK131250,AL137546,AL833170,AL833444 AAH21803,CAH10365,AAD00351,O94915,Q6AI58,Q6ZNE6,Q6ZR29,NP_055845,BAA74849,BAG54477,BAG54677,BAD18429,CAB70804 Hs.595553 DKFZp686E205|FLJ16177|KIAA0826 ALL1-fused gene from chromosome 4p12 protein|OTTHUMP00000222200|furry homolog-like|furry-like|protein furry homolog-like protein-coding 1322704 FRZB frizzled-related protein 1580863 9178261,9118218,17471511,18166153,8824257,9096311,19479880,19453261,19067193,18451162,18406176,17702698,17680269,17600823,17420170,17237116,17195216,16889986,16344560,15818669,15489334,15340161,15221014,15210948,12477932,10728394,12055200,18344084,20043861,20080650,20160027,20208569,20237151 2487 NM_001463,AC105396,AC108514,CH471058,AK130009,AK312741,AU117730,BC027855,BT019883,CR593578,CR620343,CR622855,U24163,U68057,U91903,BE549700,BF058813,NG_017197,HM015594 NP_001454,AAY24241,AAX93117,EAX10958,BAG35611,AAH27855,AAV38686,AAC50736,AAC51217,AAB51298,Q53QN4,Q53QT6,Q92765,ABM81870,ABM85032,ADL14515 Hs.128453 FRE|FRITZ|FRP-3|FRZB-1|FRZB-PEN|FRZB1|FZRB|OS1|SFRP3|SRFP3|hFIZ frezzled|frizzled homolog-related|frizzled-related protein 1|sFRP-3|secreted frizzled-related protein 3 protein-coding 1343697 FSCB fibrous sheath CABYR binding protein 17855365,16381901,16344560,15489336,15489334,12477932,11230166,11076863 84075 NM_032135,AL356022,CH471078,AK124110,AL136775,BC039878,CR933608,CR933626,DB036759,AK302615 NP_115511,EAW65797,BAG54007,CAB66709,AAH39878,CAI45927,CAI45935,Q5H9T9,CAL37864,BAH13762 Hs.307086 C14orf155|DKFZp434F1017|DKFZp686A1639|DKFZp686J0539 chromosome 14 open reading frame 155|fibrous sheath CABYR-binding protein protein-coding 1344433 FSCN1 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 1580863,2317788,2317780,2317781,2317784,2317785,2317789,2317790 20634891,8647875,8068206,18029348,19340314,19133007,19115695,19061289,18776588,18716283,18599451,18587253,18343949,18283337,17671164,17638895,17510372,17473384,17255360,17029629,17353931,20701077,20434460,20596974,20366178,16977579,16533778,16049480,15882811,15671545,15489334,14702039,14535950,14532112,12902483,12789270,12592367,12477932,12139639,12100631,10783262,9565110,9558080,9033270,8999969,8970159,8579121,7933116,3886649,1602151,16169070,10026156,19483633,19556073,19657566,19721413,19729655,19738613,19741544,19759191,19818782,19819618,20001345,20056838,20137952,3525578,18851787,20819441,20713986 2317788,2317780,2317781,2317784,2317785,2317789,2317790 6624 NM_003088,AC006483,AY044229,CH471144,AK095254,AK095830,AK316607,BC000521,BC006304,BC007539,BC007643,BC007948,BC007988,BT006636,CR595478,CR602051,CR610967,CR620934,U03057,U09873,HI574224 NP_003079,AAL01526,EAW87344,EAW87345,EAW87346,BAG53015,BAG53141,BAG38194,AAH00521,AAH06304,AAH07539,AAH07643,AAH07948,AAH07988,AAP35282,AAA86442,AAA62201,Q16658,Q96IH1,ABM82328,ABM85506,CBX47601 Hs.118400,Hs.705741 FLJ38511|SNL|p55 55 kDa actin-bundling protein|Singed, drosophila, homolog-like|actin bundling protein|fascin|singed-like (fascin homolog, sea urchin)|singed-like protein protein-coding 1319003 FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1598962,1580863 19207554,19473443,20410808,10783262,18498068,18450588,17251446,16280978,15489334,14661542,14609921,12477932,11527955,10892848,10234509,8889549 1598962 25794 NM_001077182,NM_012418,AC137896,AC139149,AA059324,NG_015964,AF066063,AF066064,AF066065,CH471099,AF066062,AA046878,AF030165,AI189621,BC126295,BC130330 NP_001070650,NP_036550,ADR83183,AAC18604,EAW89654,AAB86481,AAI26296,AAI30331,O14926 Hs.118555 RFSN|RP30 fascin-2 protein-coding 1353847 FSCN3 fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 1580863 10783262,15489334,12690205,12477932,11925108,9373149,8125298,17567994 29999 NM_020369,AC000357,AC073934,CH236947,CH471070,AF281049,AK225867,AK300518,AK314050,BC035606 NP_065102,EAL24319,EAW83632,AAF91439,BAG62230,BAG36759,AAH35606,Q9NQT6,ABM82995,ABM86188 Hs.712692 fascin-3|testis fascin protein-coding 1345798 FSD1 fibronectin type III and SPRY domain containing 1 This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq] 16344560,14702039,12477932,12445389,12154070,11267680,16169070 79187 NM_024333,AC008616,CH471139,AF316829,AK021750,AK295523,AK303606,AK315661,AY032617,BC003124,BC016442,CA749067,CR599769,CR602397,CR603556,CR610791,CR611611,CR622179,CR622875,CR623547,DA690632 NP_077309,EAW69236,EAW69237,EAW69238,AAK26747,BAB13885,BAG58437,BAG64621,BAG38027,AAK51145,AAH03124,Q9BTV5,ABM82759,ABM85946 Hs.28144 GLFND|MGC3213|MIR1 MID1-related protein 1|fibronectin type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif) 1|fibronectin type 3 and SPRY domain containing 1|fibronectin type III and SPRY domain-containing protein 1|microtubule-associated protein GLFND|midline 1-related protein 1 protein-coding 1353389 FSD1L fibronectin type III and SPRY domain containing 1-like 15342556,15164053,12477932,11267680,19448620 83856 NM_001145313,NM_031919,NM_207647,AL158070,AL161627,CH471105,AF088031,AF316830,AK296433,AK299350,AK299491,AK309817,BC036746,BP219536,BP229804,BP365251,CR936789,DN999402 NP_001138785,NP_114125,NP_997530,CAI39799,CAI13072,CAI13073,CAI13074,EAW59000,AAK26748,BAH12351,BAH13012,BAH13049,AAH36746,Q5T879,Q9BXM9 Hs.136901 CCDC10|CSDUFD1|FSD1CL|FSD1NL|MGC45564|MIR1 FSD1 C-terminal like|FSD1 N-terminal like|FSD1 N-terminal-like protein|FSD1-like protein|OTTHUMP00000212556|OTTHUMP00000212558|OTTHUMP00000212559|coiled-coil domain containing 10|coiled-coil domain-containing protein 10|cystatin and DUF19 domain containing 1 protein-coding 1346005 FSD2 fibronectin type III and SPRY domain containing 2 20966410,14702039,12477932 123722 NM_001007122,AC044907,AC105339,AK122875,AL833295,BC130569,BC144175,BC144181 ADR83407,NP_001007123,BAG53773,AAI30570,AAI44176,AAI44182,A1L4K1 Hs.719372 RP11-127F21|SPRYD1 SPRY domain containing 1|SPRY domain-containing protein 1|fibronectin type III and SPRY domain-containing protein 2|spry domain containing 1 protein-coding 1348073 FSGS1 focal segmental glomerulosclerosis 1 9461087 10685 1347721 FSGS2 focal segmental glomerulosclerosis 2 10368108 10684 69084 FSHB follicle stimulating hormone, beta polypeptide The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq] 1580863,1601221 20634197,18240029,19054012,19324968,19574343,19598235,19897680,20233786,8220432,14557487,14718574,19064572,18653705,18567894,18402948,18068163,17227474,17079072,17045735,16554811,16100240,15662415,15489334,15271874,14585810,12963710,12568861,12568849,12477932,12374801,12161499,11900895,11502795,11501762,11222739,11119757,11076863,10737800,10563789,10395410,10391209,9271483,7850869,6774759,4835136,3151250,3139991,2885163,2494176,1249074,12036966,14602737,20734064,4368999 1601221 2488 BC113490,BI033915,CD108062,EF585489,NM_000510,NM_001018080,NG_008144,AL358944,CH471064,DQ386645,DQ434892,EF198021,EF585490,EU081884,M16646,M16647,M24540,M54914,BC113488 AAI13489,AAI13491,ABQ57401,P01225,Q1W658,Q27RP3,AAI11849,NP_000501,NP_001018090,EAW68260,ABD46886,ABD84005,ABM88373,ABQ57402,ABU96749,AAA52476,AAA52470,AAB02868,ADR83472 Hs.36975 FSH-B|FSH-beta|follicle-stimulating hormone beta subunit|follitropin beta chain|follitropin subunit beta|follitropin, beta chain protein-coding 1346762 FSHMD1A facioscapulohumeral muscular dystrophy 1A 2489 1349442 FSHMD1B facioscapulohumeral muscular dystrophy 1B 2490 735571 FSHR follicle stimulating hormone receptor The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1601234,1601236,2289157,1580863,704404,1601232 19913121,20569270,20628086,20634197,20646572,20817169,18577758,1359889,1322283,1301382,21151128,9020851,15196694,7553856,10715554,19403562,19401323,19400992,19387820,19339009,19181441,19172541,19147210,19093296,19032691,19031050,19029293,19017414,18753112,18697861,18645675,18603647,18591890,18430895,18321487,18214954,18199880,18178196,18159088,18062861,17937064,17721928,17706202,17609213,17603635,17556863,17544358,17393121,17356048,17296182,17288166,17272391,17259794,17169197,17169182,17092637,17059863,17045735,17045734,17030088,16887887,16871362,16864747,16762186,16758348,16574671,16452461,16338864,16213843,16168216,16084888,16026410,15970792,15955888,15950638,15948771,15890674,15889138,15886248,15817654,15662415,15625767,15579795,15489334,15249125,15166252,15080154,15070827,15037410,14998941,14726491,14695976,14556822,12969700,12960054,12930928,12930927,12915623,12907758,12869592,12850288,12571157,12477932,12403847,12398222,12374801,12356937,12145341,12095499,12059813,12039074,11994539,11988313,11889179,11383926,10395410,10391209,10379886,9851774,9769327,9528938,9408742,9100567,8855829,8747461,8432542,8230163,7926278,7916967,1709010,17848411,12036966,20184506,20362966,20923822,20716560,20734064,20932654,20467586,19825393,16344560,18240029,19342032,19458022,19539204,19539911,19550076,19574343,19933466,20170288,20223709,20237833,20335500,20399696,20454649,20514429 1601234,1601236,2289157,1601232 2492 NM_181446,NM_000145,NG_008146,AC007189,AC079394,AC092533,CH471053,S73199,S73526,AK292562,AK301899,AK310367,AY429104,BC096831,BC118548,BC125270,M65085,M95489,S59900,X68044,DB064473 NP_852111,NP_000136,AAX93229,AAX88895,EAX00187,EAX00188,EAX00189,AAB32071,AAB32225,BAF85251,BAG63327,AAR07899,AAH96831,AAI18549,AAI25271,AAA52477,AAA52478,AAB26480,CAA48179,P23945,Q05AH0 Hs.1428 FSHRO|LGR1|MGC141667|MGC141668|ODG1 FSH receptor|OTTHUMP00000159574|follicle-stimulating hormone receptor|follitropin receptor protein-coding 1315740 FSIP1 fibrous sheath interacting protein 1 737633 14702039,12606363,12477932,20379614,20513247 737633 161835 NM_152597,AC023908,AC037198,CH471125,AK093308,AY260140,BC045191,BX642685 NP_689810,EAW92382,EAW92383,EAW92384,BAC04128,AAP20066,AAH45191,Q8NA03 Hs.129598 FLJ35989|HSD10 fibrous sheath-interacting protein 1 protein-coding 1352008 FSIP2 fibrous sheath interacting protein 2 1580863 14702039,12606363,12477932,11181995 285135 NM_173651,AC007966,AC008174,CH471058,AK092099,BC121088,BC121089,BC128052,BC148281,CR936597 NP_775922,AAY15001,AAY14863,EAX10939,EAX10941,BAC03804,AAI21089,AAI21090,AAI28053,CAI56743,Q0IJ58,Q5CZC0,Q8NAU3 Hs.376600 FLJ34780 protein-coding 1349045 FSP fibroblast secretory protein 2909392 2493 734008 FST follistatin Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq] 1580863,737711,1601259 17644811,17347381,17296189,17284512,17053951,16935389,16627583,16150905,15489334,15472207,15340161,18001154,17893249,15296481,15064726,14578849,14563935,12720540,12651901,12531697,12477932,12242034,11948405,11580864,11232039,10702675,9799587,8836491,8536619,8288705,7887917,3380788,2036994,12099690,10411917,12697670,16198295,12702211,9828086,12514121,19470636,19453261,19346981,19106105,19011242,18319260,18245525,18184649,20628624,20634891,15451575,15574124,16336961,17991437,19597895,19740438,20093255,19520047,20734064,20926007,20623366 737711,1601259 10468 NM_006350,NM_013409,AC008901,CH471123,M19481,AB451330,AB451474,BC004107,CR541813 NP_037541,NP_006341,EAW54880,EAW54881,EAW54882,EAW54883,AAA35851,BAG70144,BAG70288,AAH04107,CAG46612,P19883,Q6FHE1,ABM84359,ABM87744 Hs.9914 FS OTTHUMP00000221842|activin-binding protein|follistatin|follistatin isoform FST317 protein-coding 69033 FSTL1 follistatin-like 1 This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq] 1299173,1580863 7957230,15621726,17029022,9786430,19109154,18796737,18718903,18617621,16344560,16335952,16256108,15638044,15489334,15340161,15296481,12477932,11150499,20080650,20347265,20860622 1299173 11167 NM_007085,AB119283,AC063952,AC078982,CH471052,AF288537,AI813946,AK025860,AK289388,AK291138,AK300356,AK300436,AK311050,AK312261,AL050228,BC000055,BC017413,BX647421,DB289587,U06863 NP_009016,BAD12167,EAW79526,EAW79527,AAK01083,BAF82077,BAF83827,BAG62097,BAG62160,BAG35192,AAH00055,AAA66062,Q12841,Q9BZQ0 Hs.269512 FLJ50214|FLJ52277|FRP|FSL1 follistatin-like protein 1|follistatin-related protein 1 protein-coding 1348302 FSTL3 follistatin-like 3 (secreted glycoprotein) Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq] 1580863 9671416,18617621,17959243,17868029,17671190,17395406,17296189,16935389,16627583,16338475,16150905,15527507,15489334,15451575,15340161,15130517,14739256,12975309,12970321,12531697,12477932,12397211,12194980,11948405,11571638,11459787,10737800,12697670,15574124,16336961,17878677,18768470,19740438,20007937,20063262 10272 AC004156,AC112708,CH471242,AK291958,AK311521,AK311566,AK313341,AL050194,AY358917,NM_005860,BC005839,BC033119,BQ319646,BX439786,CR591319,CR605640,CR608155,CR609759,CR611991,CR616021,CR622567,U76702 NP_005851,EAW61165,EAW61166,BAF84647,AAQ89276,AAH05839,AAC64321,O95633 Hs.529038 FLRG|FSRP follistatin-like protein 3|follistatin-related gene protein|follistatin-related protein 3 protein-coding 1316293 FSTL4 follistatin-like 4 19023099,17975119,15527507,15489334,14702039,12477932,10470851,17554300,20379614 23105 NM_015082,AC005195,AC010307,AC010608,AC012614,CH471062,AB028984,AK026109,AK055684,AK056284,BC024300,BX640845 NP_055897,EAW62291,EAW62292,BAA83013,BAG51665,AAH24300,CAE45915,Q6MZW2 Hs.483390 follistatin-like protein 4|follistatin-related protein 4 protein-coding 1315715 FSTL5 follistatin-like 5 16344560,15527507,15489334,12477932,10574462,20379614,20966902 56884 NM_020116,NM_001128428,NM_001128427,AC023136,AC079227,AC084281,AC096717,AC104793,AC105251,AC108163,CH471056,AB033089,AK315152,AL137695,BC036502,BC036945,BC073978,DA243182 NP_064501,NP_001121900,NP_001121899,AAY40948,AAY41023,AAY40934,EAX04846,BAA86577,CAB70877,AAH36502,Q4W5F8,Q4W5K3,Q4W5Q0,Q8N475 Hs.32452 DKFZp566D234|KIAA1263 follistatin-like protein 5|follistatin-related protein 5 protein-coding 1350076 FSTL6 follistatin-like 6 15527507 404757 733688 FTCD formiminotransferase cyclodeaminase FTCD is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool.[supplied by OMIM] 1300048,1580863 19913121,20628086,20634891,10029623,19048631,14759258,12815595,12477932,10830953,10773664,9677386,11278563,19161160,19204726,20209057 10841 NM_006657,NM_206965,AP001101,AP001468,AP001473,AP001475,CH471079,AA719282,AF169017,AF289021,AF289022,AF289023,AF289024,AL109817,BC032037,BC052248,BC136383,BC136395,BI966164,BM021970,U91541,NG_016191 NP_006648,NP_996848,EAX09308,EAX09309,EAX09310,EAX09311,EAX09312,EAX09313,EAX09314,EAX09315,AAF15558,AAG01852,AAG01853,AAG01854,AAG01855,AAH32037,AAH52248,AAI36384,AAI36396,AAD15627,O95954,Q49AR5 Hs.415846 LCHC1 OTTHUMP00000115564|OTTHUMP00000115566|formimidoyltransferase cyclodeaminase|formimidoyltransferase-cyclodeaminase|formiminotransferase-cyclodeaminase protein-coding 732498 FTH1 ferritin, heavy polypeptide 1 This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq] 737792,2315110,737708,632698,1580863 20936779,11821435,16169070,9924025,6589621,19126685,19023418,18160403,17970701,17761032,17702748,17081983,17070541,16964243,15967798,15755449,15727900,15489334,15302935,14998975,14702039,14615048,12477932,12435735,12387819,11988076,11964300,11903046,11783942,11389486,10855793,10833524,9581019,9159481,8915895,8889548,8630420,7931301,7916709,7821789,7616228,7504084,6653779,6323167,3858810,3857215,3840162,3685996,3023856,3020541,3003694,1992356,659425,16189514,15607035,15388255,20705053,20877624,19821764,11031247,11252894,11591653,15123426,17116749,19539693,19855093,20088381,20110920,20133674 737792,2315110,737708,632698 2495 NM_002032,NG_008346,AP003733,CH471076,DQ496108,M14212,X03487,AB062402,AF088851,AK311818,AY258285,BC000857,BC001399,BC011359,BC013724,BC015156,BC015946,BC016009,BC016857,BC020300,BC035441,BC063514,BC066341,BC066961,BC070494,BC073750,BC104643,BC105802,BM971420,BQ887222,CR592751,CR599520,CR600685,CR608224,CR610503,CR611673,CR619451,CR624378,CR626495,D28463,L20941,M11146,M12937,M15383,M97164,X00318 NP_002023,EAW73989,EAW73990,EAW73991,EAW73992,EAW73993,EAW73994,EAW73995,EAW73996,EAW73997,EAW73998,EAW73999,EAW74000,EAW74001,ABF47097,AAA52438,CAA27205,BAB93489,AAF89523,AAP82230,AAH00857,AAH01399,AAH11359,AAH13724,AAH15156,AAH16009,AAH16857,AAH63514,AAH66341,AAH66961,AAH70494,AAH73750,AAI04644,AAI05803,BAA05829,AAA35833,AAA52437,AAA35830,AAA52479,AAA35832,CAA25086,P02794,Q6NS36,Q6NZ44,Q8TD27,ABM82039,ABM85219 Hs.524910,Hs.645560 FHC|FTH|FTHL6|MGC104426|PIG15|PLIF apoferritin|cell proliferation-inducing gene 15 protein|ferritin H subunit|ferritin heavy chain|placenta immunoregulatory factor|proliferation-inducing protein 15 protein-coding 4145187 FTH1P14 ferritin, heavy polypeptide 1 pseudogene 14 139431 AL591625,CH471074,NG_023176 EAW99069 hypothetical protein LOC139431 pseudo 4145167 FTH1P27 ferritin, heavy polypeptide 1 pseudogene 27 100270709 AC233283,AL627244,NG_009568 pseudo 1352933 FTHL1 ferritin, heavy polypeptide-like 1 pseudogene 3862645 2496 NG_004768,AL034379 FTHL1 pseudo 1353736 FTHL10 ferritin, heavy polypeptide-like 10 3862645,2821803 2502 NG_003028,AC026785 FTHL10 pseudo 1350488 FTHL11 ferritin, heavy polypeptide-like 11 3862645 2503 NG_007332,AC023644 FTHL11 pseudo 1347036 FTHL12 ferritin, heavy polypeptide-like 12 3862645 2504 NG_007333,AL513423 FTHL12 pseudo 1349879 FTHL13 ferritin, heavy polypeptide-like 13 2821803,2307464,3862645,3840162 646362 NG_007334,AL391261,U26556 FTHL13|FTHP3 pseudo 1346379 FTHL14 ferritin, heavy polypeptide-like 14 2821803 2506 1343216 FTHL15 ferritin, heavy polypeptide-like 15 8045562,3862645 2507 NG_007335,AL590037,U09960 FTHL15 pseudo 1351165 FTHL16 ferritin, heavy polypeptide-like 16 3003694,1395714 2508 NG_007337,AP000609,AP002343,X03486 FTH2|FTHL16 pseudo 1347675 FTHL17 ferritin, heavy polypeptide-like 17 This gene is similar to a mouse gene that encodes a ferritin heavy polypeptide-like protein. [provided by RefSeq] 1580863 15489334,12704671,12477932,11279525,14531651,16929165,19812237 53940 NM_031894,AC006061,CH471074,AF285592,BC069069,BC069538,BC100768,BC100769,BC100770,NG_015850 NP_114100,EAW99060,AAK31971,AAH69069,AAH69538,AAI00769,AAI00770,AAI00771,Q9BXU8 Hs.333125 CT38 cancer/testis antigen 38|ferritin heavy polypeptide-like 17 protein-coding 1344497 FTHL18 ferritin, heavy polypeptide-like 18 pseudogene 7566098 441490 NG_008265,BX842568,CH471074,AA383232 EAW99084 FTHL18 pseudo 1626261 FTHL19 ferritin, heavy polypeptide-like 19 15772651 389844 NG_009569,AJ239329,AC233283 P0C7X4 FTHL19 pseudo 1349262 FTHL2 ferritin, heavy polypeptide-like 2 3862645 2497 NG_007330,AL096776 FTHL2 pseudo 3362323 FTHL20 ferritin, heavy polypeptide-like 20 729009 NG_023542,AC104076,AC104820 FTHL20 pseudo 3077589 FTHL22 ferritin, heavy polypeptide-like 22 100462772 AL135798,NG_022736 FTHL22 pseudo 3077556 FTHL24 ferritin, heavy polypeptide-like 24 100462797 AC112236,NG_022082 FTHL24 pseudo 3077544 FTHL25 ferritin, heavy polypeptide-like 25 100462799 AL109865,NG_022745 FTHL25 pseudo 1347558 FTHL3P ferritin, heavy polypeptide-like 3 pseudogene 12477932,3862645 2498 NR_002201,AC074117,BC073777 Hs.658438 FTHL3|FTHL3P pseudo 1344317 FTHL4 ferritin, heavy polypeptide-like 4 pseudogene 3862645 2499 NG_004769,AC139617 FTHL4 pseudo 1347891 FTHL7 ferritin, heavy polypeptide-like 7 9116028,3862645 2500 NG_007331,AL354828 FTHL7 pseudo 1342654 FTHL8 ferritin, heavy polypeptide-like 8 3862645 2501 NG_007336,L29074,CR614668 Hs.645560 FTHL8 pseudo 1345882 FTHP1 ferritin, heavy polypeptide pseudogene 1 2307464 2509 NG_005639,AL049693,AL136973,J04755 Hs.453583 FTHL5|FTHP1 pseudo 1343535 FTHP2 ferritin, heavy polypeptide pseudogene 2 9847074,7612929 2510 NG_001121,AC109352,U09962 FTHL21|FTHP2 pseudo 1346340 FTL ferritin, light polypeptide This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq] 1598966,1580863 20689807,20345975,20471030,18755684,18665827,18586377,18413574,18160403,18061976,17970701,17761032,17660802,17601350,17459943,16858508,16822677,16790936,16289162,16252260,16222695,16217041,16189514,16116125,15835264,15727900,15489334,15390032,15231748,15231747,15099026,14615048,12746423,12477932,12459518,12387819,12200611,12199804,12071855,11849230,11783942,11591653,11438811,10828006,10759702,10753629,10491119,9457670,9414313,9414300,9292547,9226182,9196065,9169099,9119260,8864140,8781450,8636399,8630420,8554925,8041631,7575610,7493028,6653779,6572903,3858810,3857215,3840162,3754330,3291676,3023856,3000916,2821803,16169070,7492760,8706699,19519778,19176363,18977241,9526618,659425,12646258,11031247,11252894,17116749,19254706,19318681,19781644,19787796,19923220,20088381,20159981,20381070 1598966 2512 NM_000146,NG_008152,AC026803,AY660755,CH471177,DQ094830,DQ094831,X03742,X03743,AF147331,AK026534,AK130191,AK130205,AK131048,AK131050,AK131053,AK307065,AK311773,AY207005,AY466472,BC002991,BC004245,BC008439,BC008441,BC013928,BC016346,BC016354,BC016715,BC018990,BC021670,BC058820,BC062708,BC067772,BX571748,CR456715,CR596451,CR608406,CR610876,M10119,M11147,M12938,Y09188 NP_000137,AAT66408,EAW52422,EAW52423,AAZ04399,AAZ04400,CAA27382,CAA27383,CAA27384,BAG34716,AAO52739,AAS45711,AAH02991,AAH04245,AAH08439,AAH13928,AAH16346,AAH16354,AAH16715,AAH18990,AAH21670,AAH58820,AAH62708,CAE11873,CAG32996,AAA35831,AAA52439,AAA52440,CAA70387,O00563,P02792,Q4FCH6,Q6DMM8,Q6IBT7,Q6S4P3,Q86WI9,Q8WU07,Q96AU9,Q96CU0,Q9P150,ABM83906,ABM87227,ACE87366,ACE86682 Hs.713706,Hs.433670 MGC71996|NBIA3 ferritin L subunit|ferritin L-chain|ferritin light chain|ferritin light polypeptide-like 3 protein-coding 1606917 FTLL1 ferritin, light polypeptide-like 1 3754330,3032771,3000916,2821803 284764 NG_002715,AL031670 FTLL1|dJ681N20.2 pseudo 1353556 FTLL2 ferritin, light polypeptide-like 2 392437,2514 AC005913,NG_017087 FTLL2 pseudo 1350618 FTLP ferritin, light polypeptide pseudogene 170514 NG_001037,AL162458 FTLP|bA465L10.3 pseudo 3129621 FTLP10 ferritin, light polypeptide pseudogene 10 100130017 AC098799,AY885668,NR_015446 Hs.582037 pseudo 3457134 FTLP11 ferritin, light polypeptide pseudogene 11 100289501 AC055876,AC174071,NG_023157 pseudo 3077558 FTLP12 ferritin, light polypeptide pseudogene 12 100462792 AC093484,NG_022455 pseudo 3077571 FTLP13 ferritin, light polypeptide pseudogene 13 100462793 AC138761,NG_022463 pseudo 3077557 FTLP14 ferritin, light polypeptide pseudogene 14 100462794 AC099314,NG_022524 pseudo 3302433 FTLP15 ferritin, light polypeptide pseudogene 15 442304 AC073115,CH236958,NG_022533 pseudo 3231815 FTLP16 ferritin, light polypeptide pseudogene 16 100420158 AF241726,NG_022590 pseudo 3184433 FTLP17 ferritin, light polypeptide pseudogene 17 642337 AC092506,CH471156,NG_023171 EAW51244 pseudo 3077584 FTLP18 ferritin, light polypeptide pseudogene 18 100462786 AL080286,NG_022775 pseudo 3322053 FTLP4 ferritin, light polypeptide pseudogene 4 100129251 AL353745,NG_023019 pseudo 3539546 FTLP5 ferritin, light polypeptide pseudogene 5 100131661 AC093078,NG_022975 pseudo 3077588 FTLP6 ferritin, light polypeptide pseudogene 6 100462788 AP001157,NG_021790 pseudo 3436675 FTLP7 ferritin, light polypeptide pseudogene 7 441623 AP003174,NG_021805 pseudo 3077572 FTLP8 ferritin, light polypeptide pseudogene 8 100462790 AL356580,NG_021963 pseudo 3077587 FTLP9 ferritin, light polypeptide pseudogene 9 100462780 AC008638,NG_022015 pseudo 1348564 FTMT ferritin mitochondrial 1580863 11323407,18160053,18815198,18805796,18372207,18325346,18076382,17565989,17459943,16797877,16537925,16448386,15755449,15489334,15201052,15065877,12547228,12477932,12406866,11953424,20526373,20877624,20939738,19585161,19816198 94033 HC007000,HC044675,NM_177478,AC117523,CH471086,BC034419 CBH19305,CBH30667,NP_803431,EAW48901,AAH34419,Q8N4E7,ADR83312 Hs.105324 MTF ferritin H subunit|ferritin heavy chain-like|ferritin, mitochondrial|mitochondrial ferritin protein-coding 1625089 FTO fat mass and obesity associated 20571754,20616199,20616309,19913121,20616607,20628085,20628086,20650268,20702506,20703240,20717169,20733583,20733585,20811910,20816195,20821366,20813088,20819567,18948966,18855084,18853134,18846049,18842783,18839134,18838977,18833210,18799002,18794893,18787525,18779467,18775698,18719664,18698412,18694974,18682847,18663371,18647953,18616701,18599522,18598350,18597214,18591388,18583465,18572014,18551112,18551109,18550552,18535549,18516622,18487448,18478198,18477659,18469204,18454148,18445669,18437351,18426866,18426861,18379722,18372903,18347269,18346983,18339204,18336062,18335027,18316358,18281390,18256137,18252780,18251005,18249188,18239580,18218107,18212765,18159244,18055244,18048838,17996046,17991826,17959933,17942823,17928989,17928949,19625203,19602701,19587359,19584900,19559399,19557197,19553294,19553259,19543202,19542184,19497595,19491387,19470880,19375760,19373445,19329528,19322589,19278366,19265514,19259258,19255736,19224890,19214238,19180072,19169064,19164386,19158205,19153581,19151714,19139842,19079261,19079260,19073975,19056611,19053021,19030008,19020324,19016587,19008344,19005641,19002430,18991055,18984664,18984658,17804762,17658951,17657473,17554300,17496892,17463249,17463248,17434869,16344560,14702039,12477932,11214970,10501967,9110174,8889549,8619474,8358434,17917711,20598163,19798072,20647405,20712903,20724581,20725061,20734064,20816152,20843981,20863147,20879858,20889853,20929593,20945952,20945953,20966902,20975729,20976066,21037115,21063808,20339516,20858286,20948226,21102462,20935630,19396169,19668254,19679263,19687793,19692490,19720844,19726594,19741467,19746409,19793853,19794065,19812171,19818665,19828706,19833889,19833892,19859840,19862325,19876004,19880856,19906786,19910641,19913856,19918250,19933996,20003232,20007308,20009087,20031593,20031594,20051647,20057365,20075150,20075932,20090391,20092643,20161779,20181787,20186840,20203524,20215397,20299471,20337217,20351740,20362563,20368485,20373279,20376003,20377915,20379142,20379614,20386550,20397748,20400278,20404173,20409671,20418190,20421936,20430937,20442772,20467478,20490451,20502638,20503258,20509872,20511725,20520848,20581827 79068 NM_001080432,AC007347,AC007496,AC007909,CH471092,AB051539,AK096554,AK295196,BC001284,BC003583,BC030798,BC132892,BC137091,CR594763,DA324897,U79260,NG_012969 NP_001073901,EAW82811,BAB21843,BAG53322,BAG58196,AAH03583,AAH30798,AAI32893,AAI37092,AAB50206,Q99770,Q9C0B1,AAI48443,AAI53033 Hs.528833 KIAA1752|MGC5149 alpha-ketoglutarate-dependent dioxygenase FTO|fat mass and obesity-associated protein|protein fto protein-coding 1345273 FTSJ1 FtsJ homolog 1 (E. coli) The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and may be involved in the processing and modification of rRNA. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 19012053,18401546,18081026,17333282,15772651,15489334,15342698,15162322,14702039,12801724,12477932,10648622,10398246,8288232,1605216,19615732,17207965 24140 NM_177439,NM_012280,NM_177434,NG_008879,AF196972,CH471224,AF063015,AJ005892,AK024023,AK297486,AK315138,BC021047,BC023584,CR590233,CR595180,CR595767,CR600255,CR606907,CR609653,CR613129,CR616099,CR616867 NP_803188,NP_036412,NP_803183,EAW50782,EAW50783,EAW50784,AAC33734,CAA06749,BAG51253,BAH12590,BAG37587,AAH23584,Q9UET6,ADQ32209 Hs.23170 CDLIV|JM23|MRX44|MRX9|SPB1|TRM7 cell division protein|protein ftsJ homolog 1|putative ribosomal RNA methyltransferase 1|rRNA (uridine-2'-O-)-methyltransferase protein-coding 1314273 FTSJ2 FtsJ homolog 2 (E. coli) The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq] 1580863,1359074 15489334,12477932,11827451,10049595,20877624 1359074 29960 AC004971,AC005282,CH236953,CH471144,AF093415,AK024635,AK302060,BC017106,BC017181,BC114514,BC114564,CR595456,CR596377,CR599851,CR607391,CR607631,CR614237,CR619939,CR621949,CR624501,CR626730,CR749618,NM_013393 NP_037525,EAW87223,EAW87224,AAF22488,BAG63450,AAI14515,AAI14565,CAH18412,Q1WWK4,Q68D18,Q9UI43 Hs.279877 DKFZp686J14194|FJH1 cell division protein FtsJ|protein ftsJ homolog 2|putative ribosomal RNA methyltransferase 2|rRNA (uridine-2'-O-)-methyltransferase protein-coding 1316109 FTSJ3 FtsJ homolog 3 (E. coli) Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq] 1580863 17081983,16964243,16565220,16189514,15635413,15489334,14702039,12477932,12429849,17353931 117246 NM_017647,AC015651,CH471109,AF147378,AF327355,AK000069,AK095861,AK296715,AK307398,AK315010,AL834482,BC000131,BC036710,BM914774,CR596573,CR614545 NP_060117,EAW94273,EAW94274,EAW94275,AAL56015,BAA90924,BAG59305,BAG37502,CAD39141,AAH00131,AAH36710,Q8IY81,ABM83247,ABM86449 Hs.463785 EPCS3|FLJ20062 protein ftsJ homolog 3|putative rRNA methyltransferase 3|rRNA (uridine-2'-O-)-methyltransferase 3 protein-coding 1601859 FTSJD1 FtsJ methyltransferase domain containing 1 16344560,14702039,12477932 55783 NM_018348,NM_001099642,AC106736,CH471166,AA968997,AF458590,AK000289,AK002033,AK023183,AK226169,AK315056,BC034468,BC035005,BX648660,DB227997,DB240113 NP_060818,NP_001093112,EAW59246,EAW59247,AAM49718,BAA91058,BAA92047,BAB14452,BAG37532,AAH34468,AAH35005,Q8IYT2 Hs.72782 AFT|FLJ11171 OTTHUMP00000174919|adrift homolog|ftsJ methyltransferase domain-containing protein 1|protein adrift homolog protein-coding 1317204 FTSJD2 FtsJ methyltransferase domain containing 2 1580863 18533109,17081983,16344560,15489334,14574404,12477932,7788527,20713356,18029348 23070 NM_015050,AL353597,CH471081,AK025809,AK292564,BC010731,BC031890,CR617509,D43949,DA508836,AK000348 NP_055865,CAI19602,CAI19603,CAI19606,EAX03946,BAF85253,AAH10731,AAH31890,BAA07893,Q8N1G2 Hs.520102 FLJ22156|KIAA0082|MTr1|hMTr1 ISG95|S-adenosyl-L-methionine-dependent methyltransferase FTSJD2|cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1|cap1 2'O-ribose methyltransferase 1|ftsJ methyltransferase domain-containing protein 2|interferon-stimulated gene 95 kDa protein protein-coding 1344155 FUBP1 far upstream element (FUSE) binding protein 1 This gene encodes a ssDNA binding protein that activates the far upstream element (FUSE) of c-myc and stimulates expression of c-myc in undifferentiated cells. Regulation of FUSE by FUBP occurs through single-strand binding of FUBP to the non-coding strand. This protein has been shown to function as an ATP-dependent DNA helicase. [provided by RefSeq] 1580863 20420426,17353931,8125259,18029348,19219071,19165527,19015535,19003864,16964243,16672220,16628215,16289162,16169070,15592455,15489334,15302935,15146197,12819782,12477932,12176931,11875576,11239393,11222755,11071946,11003644,10882074,10734235,15502847,19087307,19585652,19637194 8880 AC096948,CH471059,AB209366,AK300032,AK301581,AK303568,BC010083,BC017247,BQ649331,CN291186,U05040,NM_003902 NP_003893,EAX06356,EAX06357,EAX06358,BAD92603,BAG61843,BAG63073,BAG64590,AAH10083,AAH17247,AAA17976,Q59FU3,Q6PJY1,Q96AE4,ABM86845,ABW03830 Hs.567380 FBP|FUBP DNA helicase V|FUSE-binding protein 1|OTTHUMP00000038510|far upstream element binding protein|far upstream element-binding protein 1|hDH V protein-coding 1315940 FUBP3 far upstream element (FUSE) binding protein 3 20211142,20881960,17474147,8940189,18391950,15489334,12477932,16713569,19087307,20379614 8939 AL359092,NM_003934,AL353695,CH471090,AK057958,AK295155,AL537190,BC001325,BC007874,BC015184,BC041566,BC137338,BC137340,BI461266,CR613887,U69127 NP_003925,CAH70960,CAH70961,EAW87937,EAW87938,BAG58170,AAH01325,AAH07874,AAI37339,AAI37341,AAC50893,Q96I24 Hs.98751,Hs.673029 FBP3|FLJ25229 FUSE-binding protein 3|far upstream element-binding protein 3 protein-coding 735673 FUCA1 fucosidase, alpha-L- 1, tissue Alpha-L-fucosidase (EC 3.2.1.51) is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids (Occhiodoro et al., 1989 [PubMed 2803312]). At least 2 separate polymorphic alpha-L-fucosidases are recognized in man: that in tissues, FUCA1, which is deficient in fucosidosis (MIM 230000), and that in plasma, FUCA2 (MIM 136820).[supplied by OMIM] 1580863,2315931,704404,1598969,2315947,2315946,2315949,2315945,2315932,2315943,2315944 19615732,19782187,9373149,8401503,2642067,8399358,8125298,8097260,7874128,7827138,7815431,6096099,4074382,4052017,3817676,3780313,2983333,2894306,2803312,2174090,2012122,1281988,17207965,20800603,11698403,19064572,18217416,17133604,16773698,16710414,15489334,14702039,12477932,12408193,11549468,11389735,10094192,9781852,9762612,8673729,8504303 2315931,1598969,2315947,2315946,2315949,2315945,2315932,2315943,2315944 2517 DC397571,NG_013346,NM_000147,AL590728,CH471134,M80815,AB074175,AK092914,AK095443,AK095455,AK225468,AK295535,AK301302,AK310143,AK314649,BC017338,BX956202,M10355,M29877,X01390 ADQ32636,NP_000138,CAH74004,EAW95098,AAA52481,BAE45738,BAC04002,BAH12098,BAH13453,BAG37210,AAH17338,AAA52482,AAA35519,CAA25646,P04066 Hs.370858 FUCA alpha-L-fucosidase 1|alpha-L-fucosidase I|alpha-L-fucoside fucohydrolase 1|tissue alpha-L-fucosidase protein-coding 1350454 FUCA1P fucosidase, alpha-L- 1, tissue pseudogene 8504303,1977129 2518 NG_001122,AC092162,M80816 FUCA1P pseudo 1344103 FUCA2 fucosidase, alpha-L- 2, plasma 1580863 11389735,15342556,8344670,18521898,16303743,15489334,14574404,12975309,12477932,6590153,1951444,20800603,19666478,17207965 2519 BP214015,NM_032020,AL031320,CH471051,AK075458,AK296485,AK315475,AY358551,BC003060,BC051268,BG719318,BX537633,CA412923,CR591818,CR592398,CR594725,CR594942,CR596039,CR597166,CR597696,CR597899,CR604319,CR604354,CR604858,CR605098,CR616303,CR619981,NG_027676 NP_114409,CAB53746,CAD92494,CAD92495,EAW47865,BAC11633,BAG59123,AAQ88915,AAH03060,AAH51268,Q7Z6V1,Q9BTY2,ADQ32368 Hs.17680 MGC1314|RP1-20N2.5|dJ20N2.5 alpha-L-fucosidase 2|alpha-L-fucoside fucohydrolase 2|plasma alpha-L-fucosidase protein-coding 1315934 FUK fucokinase The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. 737633,1580863 12056818,15489334,14702039,12975309,12477932 737633 197258 AK293794,NM_145059,AC012184,AC106804,AY829643,CH471241,AJ441184,AK056456,AK074168,AK092025,AK096727,AK123470,AK128387,AK315590,AY358187,BC013735,BC032542,CR610176 BAG57206,NP_659496,AAV67949,EAW51814,EAW51815,EAW51816,EAW51817,CAD29647,BAB71190,BAB84994,BAC04852,BAC87413,BAG37962,AAQ88554,AAH13735,AAH32542,Q6UXW0,Q8N0W3,Q8N8I9,Q8TEF6,ABM84278,ABM87670 Hs.7907 1110046B12Rik|FLJ39408 L-fucose kinase protein-coding 1351437 FUNDC1 FUN14 domain containing 1 737633 18957941,16341674,15772651,15489334,12477932,11329013 737633 139341 NM_173794,BG213042,BM837991,AL022163,AL136137,CH471141,BC035015,BC042813,NG_021288 Q8IVP5,NP_776155,CAI42944,CAI40461,EAW59371,AAH35015,AAH42813 Hs.7549 MGC51029 FUN14 domain-containing protein 1 protein-coding 1351400 FUNDC2 FUN14 domain containing 2 737633 11256614,16381901,15489336,15146197,14702039,12665903,12477932,11076863,8889548,16169070 737633 65991 NM_023934,NG_005114,BX470111,CH471172,AF267862,AF320778,AI886036,AJ272054,AK091092,AK313143,AY032594,BC000255,BC072685,BC108657,BI463291,BM713884,BU738737,CN306694,CR591953,CR594530,CR596237,CR612292,CR612714,CR616296,CR616892 NP_076423,CAI41658,CAI41659,EAW72643,EAW72644,AAG44731,AAN51931,CAC81242,BAG35962,AAK51136,AAH00255,AAH72685,AAI08658,Q5HYP8,Q9BWH2,CAL38105,CAL38413 Hs.356050 DC44|FLJ33773|HCBP6|HCC3|MGC131676|MGC2495|PD03104 FUN14 domain-containing protein 2|HCC-3|cervical cancer oncogene 3|cervical cancer proto-oncogene 3 protein|hepatitis C virus core-binding protein 6 protein-coding 1604200 FUNDC2P FUN14 domain containing 2 pseudogene 220793 NG_005087,AC099522 FUNDC2P pseudo 3436551 FUNDC2P3 FUN14 domain containing 2 pseudogene 3 14702039 644625 AL592423,NG_022375 FLJ37060 pseudo 2802019 FUNDC2P4 FUN14 domain containing 2 pseudogene 4 100127979 AL031846,NG_022878 pseudo 1323167 FURIN furin (paired basic amino acid cleaving enzyme) The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease that can efficiently cleave precursor proteins at their paired basic amino acid processing sites. Some of its substrates are: proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene is thought to play a role in tumor progression. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1582625,1582622,1580863,2315952 10037747,19477160,19998449,20062797,20101215,8615794,15082773,8940009,14744861,10567353,15899807,16912035,8262946,17010968,16537537,15078902,19541935,19492430,19193799,19152512,19056739,18826955,18546152,18544638,18467449,18323532,18245819,18174282,18064302,18037384,17948127,17938254,17909005,17905609,17905608,17641413,17477394,17360815,17283058,12787574,16942750,16648485,16627761,16407210,15911696,15659365,15637056,15611046,15606899,15584904,15564468,15489334,15371436,15247425,15240540,14741044,14739277,14644155,14596804,12736257,9653148,9642263,9599222,9442015,9412467,9242664,9166946,8995623,8846780,8546712,8174106,8020465,7782070,7781597,7737999,7721880,7690548,7508380,3023061,2674906,2408021,2251280,2112085,1741956,1713771,1629222,1571548,16600625,12354117,12071862,11921231,11861826,10452538,10225274,9521771,9094426,8670066,8189547,8163529,7774724,7639757,15135058,12670890,12644459,12586364,12584323,12547702,12482870,12477932,12460941,12411321,12220680,12058067,12058031,12006600,11861638,11804956,11723118,11571266,11422372,11416205,11380615,11331585,11323410,11294867,11237874,11071887,10900462,10888676,10887202,10593987,10373500,10050053,9927419,9827567,9695949,1360148,20608975,19913121,20628086,20707915,20605791 1582625,1582622,2315952 5045 NM_002569,A06939,AC124248,CH471101,S72615,X04329,X15723,BC008295,BC012181,S65442,X17094 NP_002560,CAA00605,EAX02111,EAX02112,CAA27860,CAA33745,AAH12181,AAB28140,CAA34948,P09958 Hs.513153 FUR|PACE|PCSK3|SPC1 FES upstream region|dibasic processing enzyme|dibasic-processing enzyme|furin|furin, membrane associated receptor protein|paired basic amino acid residue-cleaving enzyme|proprotein convertase subtilisin/kexin type 3 protein-coding 1318882 FUS fusion (involved in t(12;16) in malignant liposarcoma) 1580863 20577002,20660363,20668259,20668261,20232451,9264461,20864052,20621307,20720006,8510758,9774382,12226669,18029348,19369647,19303844,19251628,19251627,19037998,18850010,18648544,18620564,18167354,17721195,17468515,16651630,16230076,16215946,15988032,15782174,15688424,15635413,15489334,15299008,15286712,12915480,12581738,12477932,12169268,12168660,11850402,11438536,11278855,10862698,10779324,10567410,10442642,9795213,18509338,9660765,9478924,9440806,8921363,8187069,7987849,7503811,2372777,18954305,16169070,12183049,17353931,20224596,20606625,20624952,20385912,16365397,12830400,12840784,12858291,15975576,16344560,17196963,19450904,19669651,19674978,19741215,19741216,19841068,19861302,19965854,20017906,20018407,20061612,20124201,20142531,20472325,20517935,20544928,19922450,20863376 2521 NM_004960,NR_028388,AC009088,AF071213,CH471192,AB208902,AK098774,AK130774,AK290936,AK299129,AK301110,AW514140,BC000402,BC002459,BC026062,BC051293,BT007131,BX423519,CR456747,CR591758,CR598388,CR599479,CR602284,CR608658,CR615094,CR616248,CR618073,CR618104,CR621237,CR626089,CR626591,DC361263,R07006,S62140,U36561,X71428,GU933437,AI333366,AW408771,DA541747,NG_012889,NM_001170634,NM_001170937,U00942 NP_004951,AAC35284,AAC35285,EAW52150,EAW52151,EAW52152,BAD92139,BAF83625,BAG61182,BAG62709,AAH00402,AAH02459,AAH26062,AAP35795,CAG33028,AAB27102,AAA79948,CAA50559,P35637,Q13344,Q59H57,Q6IBQ5,Q8TBR3,ABM82631,ABM85808,NP_001164105,NP_001164408 Hs.46894 ALS6|CHOP|FUS-CHOP|FUS1|HNRNPP2|POMP75|TLS|TLS/CHOP|hnRNP-P2 75 kDa DNA-pairing protein|RNA-binding protein FUS|fus-like protein|fusion gene in myxoid liposarcoma|heterogeneous nuclear ribonucleoprotein P2|oncogene FUS|oncogene TLS|translocated in liposarcoma protein protein-coding 1349988 FUSE polykaryocytosis promoter 2522 1322327 FUSIP1 FUS interacting protein (serine/arginine-rich) 1 This gene product is a member of the serine-arginine (SR) family of proteins, which is involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein can influence splice site selection of adenovirus E1A pre-mRNA. It interacts with the oncoprotein TLS, and abrogates the influence of TLS on E1A pre-mRNA splicing. Alternative splicing of this gene results in at least two transcript variants encoding different isoforms. In addition, transcript variants utilizing alternative polyA sites exist. [provided by RefSeq] 1580863 9774382,11684676,17936706,17081983,16135820,15489334,15324660,15302935,14765198,14702039,14559993,12477932,12419250,11891055,11790298,10779324,9373149,9110174,17207965,10583508,17361132,8619474,8125298,17353931,15778465,20516191,20232416 10772 AK055311,AK093226,AK125834,AK222994,AK296175,AY007101,AY150180,AY150181,BC001107,BC005039,BC010074,BC071575,BX648939,AL133655,NM_054016,AF419332,AL590609,AX876414,AX971644,AY048592,BX511012,CH471134,AF047448,AF067730,AF419331,AF449427,AK001286,AK001479,AK001656,AK054635,NM_006625,AA808243,NM_001191005,NM_001191006,NM_001191007,NM_001191009,NR_034035 BAG51498,BAG54253,BAD96714,BAG58911,AAN65380,AAN65381,AAH01107,AAH05039,AAH10074,AAH71575,O75494,Q53GD7,Q5JRI1,Q5JRI3,Q6IQ42,NP_006616,NP_473357,AAL16666,CAI14803,CAI14804,CAI14805,CAI14806,CAI14807,CAI14808,CAE89263,CAF16752,AAL06098,AAL06099,EAW95103,EAW95104,EAW95105,EAW95106,EAW95107,AAC70918,AAC26727,AAL16665,AAL57514,BAA91601,BAG50956,ADQ33177,NP_001177934,NP_001177935,NP_001177936,NP_001177938 Hs.3530 DKFZp686H0644|FLJ30749|FLJ43846|FUSIP1|FUSIP2|NSSR|SFRS13|SFRS13A|SRp38|SRrp40|TASR|TASR1|TASR2 40 kDa SR-repressor protein|FUS interacting protein (serine-arginine rich) 1|FUS-interacting protein (serine-arginine rich) 2|FUS-interacting serine-arginine-rich protein 1|SR splicing factor 10|TLS-associated SR protein|TLS-associated protein TASR|TLS-associated protein with SR repeats|TLS-associated protein with Ser-Arg repeats|TLS-associated serine-arginine protein 1|TLS-associated serine-arginine protein 2|fus interacting protein (serine-arginine rich) 1|neural-salient SR protein|serine-arginine repressor protein (40 kDa)|serine/arginine-rich splicing factor 10|splicing factor SRp38|splicing factor, arginine/serine-rich 13|splicing factor, arginine/serine-rich 13A protein-coding 1350808 FUSIP1P FUS interacting protein (serine-arginine rich) 1 pseudogene 387613 1626567 FUSIP1P2 FUS interacting protein (serine/arginine-rich) 1 pseudogene 2 11891055 171472 NG_001017,AL031679 FUSIP1P2|SFRS13AP2|dJ836E8.1|pFUSIP1 pseudo 737372 FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq] 1580863 18686606,19572973,2118655,11698403,19137814,18374127,18205178,18155296,18023290,17922418,17459061,16331565,15847661,15489334,15487706,15476160,15146197,12697902,12652076,12477932,12366770,10330445,9760178,9745152,9299444,9226185,9122901,9054453,7912436,7768954,7656588,1763885,21060863 2523 M35531,D87941,NM_000148,NG_007510,AB004859,AB004860,AB004861,AB004862,AB004863,AB006136,AC009002,AF455028,AJ276886,AY611628,AY780784,AY923051,CH471177,DQ092446,DQ321370,FJ665616,FM162557,Z69587,BC074732,CN359119,D87935,D87936,D87937,D87938,D87939,D87940,FM180557 AAA52639,O14504,O75029,P19526,Q4JGW8,Q5U805,Q6IZA2,Q76N68,Q8IVN2,Q8WXB6,NP_000139,BAA20556,BAA20557,BAA20558,BAA20559,BAA20560,BAA28952,AAL57863,CAC81751,AAT42242,AAV51818,AAW82437,EAW52399,AAY96648,ABC59307,ACN41952,CAQ56300,CAA93435,AAH74732,CAQ81977 Hs.69747 H|HH|HSC 2-alpha-L-fucosyltransferase|GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1|alpha (1,2) fucosyltransferase|alpha(1,2)FT 1|blood group H alpha 2-fucosyltransferase|fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)|galactoside 2-alpha-L-fucosyltransferase 1 protein-coding 1354084 FUT10 fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 1580863 11698403,19088067,14702039,12477932,12370785,20379614 84750 NM_032664,AC067838,AC091144,CH471080,AJ431184,AJ512465,AJ535838,AJ535839,AJ582015,AK056199,AK098505,AK292993,AK297132,AK303231,BC004884,BC063462,CR596972 NP_116053,EAW63401,EAW63402,EAW63403,EAW63404,CAD24023,CAD54669,CAD59771,CAD59772,CAE46499,BAF85682,BAG59636,BAG64318,AAH04884,AAH63462,Q6P4F1 Hs.458713 MGC11141 alpha 1,3-fucosyl transferase|alpha-(1,3)-fucosyltransferase 10|fuc-TX|fucT-X|fucosyltransferase X|galactoside 3-L-fucosyltransferase 10 protein-coding 735764 FUT11 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 19088067,14702039,12477932,11698403 170384 BC100997,NM_173540,AC022400,CH471083,AK095482,AK314944,BC036037,BC100994,BC100995,BC100996 AAI00997,AAI00998,Q495W5,ABM85304,ABW03711,NP_775811,EAW54518,EAW54519,BAG37450,AAH36037,AAI00995,AAI00996 Hs.588854 MGC119338|MGC119339|MGC33202 alpha-(1,3)-fucosyltransferase 11|alpha3-fucosyltransferase 11|fuc-TXI|fucT-XI|fucosyltransferase XI|galactoside 3-L-fucosyltransferase 11 protein-coding 735387 FUT2 fucosyltransferase 2 (secretor status included) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 20533259,20565774,20570966,7876235,11698403,19303062,19169360,18997004,18803289,18776911,18422843,18067503,17922418,17805536,17760744,17054072,16514298,16344560,16306606,16168124,16008680,15809881,15757249,15487706,15476160,15338364,15250822,12692541,12673421,12645255,12477932,12164325,11916003,11806852,11777923,11606829,11535550,11323419,9760207,9745152,9299444,9219535,8755920,8621666,7876234,7656588,17655580,17537929,21060863,20172014,1763885,19440360,19487333,19572973,19625176,19692168,19757028,20000042,20197723,20514537,21102463,20800603,20852008,20971884 2524 NM_001097638,NG_007511,AB000931,AB032485,AB032486,AB034980,AC008888,AY817671,AY937240,CH471177,D87945,D89326,D89327,DQ321371,U17894,AK290277,AY751739,BC001899,BC121066,BE266792,NM_000511,BT006657,D87942,DA918525,FM180560,FM180562,FM180563,FM180564 NP_000502,NP_001091107,AAV65715,AAX14047,EAW52379,BAA13943,BAA13944,ABC59308,AAC24453,BAF82966,AAU47383,AAP35303,BAA21684,Q10981,Q5XLR8,Q99450,CAQ81980,CAQ81982,CAQ81983,CAQ81984 Hs.579928,Hs.655052 B12QTL1|SE|SEC2|Se2|sej GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2|alpha (1,2) fucosyltransferase|alpha(1,2)FT 2|alpha(1,2)FT2|fucosyltransferase|galactoside 2-alpha-L-fucosyltransferase 2|secretor blood group alpha-2-fucosyltransferase|secretor factor protein-coding 1351938 FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,1977660,19175549,19169360,19137814,18977761,18974842,18953356,18803289,18205178,17383304,17054072,16800951,16427187,16344560,16239964,16199102,16168124,16097066,16008680,15832169,15639866,15639865,15489334,15338364,15331092,14977360,14687237,12730721,12673421,12493760,12477932,12424536,12164325,11819805,11698403,11668626,11535550,10816554,10394050,10089211,9703429,9268337,8943285,8889548,8801770,8240337,8240322,8219240,8063716,7961897,7916594,7656588,7650030,1740457,21203500,19349624,19572973,19715603,20003467,20179215,20197723,20514537 2525 NM_000149,NM_001097639,NM_001097640,NG_007482,AB043998,AC024592,AY849570,AY870341,CH471139,D89324,D89325,S52874,AF131913,AK291852,AK313575,BC074836,BC074837,BC108675,BM671165,DA876997,DA930897,DB200655,U27326,U27327,NM_001097641,U27328,X53578,FM164935,FM164936,FM180567 NP_001091110,NP_000140,NP_001091108,NP_001091109,BAA96390,AAW34365,EAW69135,BAA13941,BAA13942,AAD33514,BAF84541,BAG36347,AAH74836,AAH74837,AAI08676,AAC50185,AAC50186,AAC50187,CAA37641,P21217,Q9P1W6,CAQ68512,CAQ68513,CAQ81987 Hs.169238 CD174|FT3B|FucT-III|LE|Les|MGC131739 Lewis FT|alpha-(1,3/1,4)-fucosyltransferase|blood group Lewis alpha-4-fucosyltransferase|fucosyltransferase|fucosyltransferase III|galactoside 3(4)-L-fucosyltransferase protein-coding 1342617 FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq] 1580863 20458727,16712791,11698403,1716630,19185848,18085638,18023290,17662271,17556010,17409497,16842926,15579466,15182935,12738675,12477932,11006292,9756916,9186069,8889548,8287679,8116567,7782074,7508745,3305706,1718983,1702034,20506505,16884686,19546439,19725119,20181261 2526 NM_002033,AP000943,CH471065,M65030,S65161,AA029661,AA029722,AF305083,BC041922,BC136373,BC136374,BE242611,BQ232971,CA315021,CB123990,CB140063,M58596,M58597,R48692 NP_002024,EAW66938,AAA92977,AAB20349,AAI36374,AAI36375,AAA63172,AAA63173,P22083 Hs.390420,Hs.572064,Hs.623098 CD15|ELFT|FCT3A|FUC-TIV|FUTIV|LeX|SSEA-1 ELAM ligand fucosyltransferase|ELAM-1 ligand fucosyltransferase|Lewis X|alpha-(1,3)-fucosyltransferase|fucT-IV|fucosyltransferase IV|galactoside 3-L-fucosyltransferase|stage-specific embryonic antigen 1 protein-coding 1348340 FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 1580863 20677162,12477932,19349624,11698403,1339443,17148576,14601054,10622713,7782074,7650030,1740457 2527 NM_002034,AC024592,CH471139,M81485,BC140905,U27329,U27330 NP_002025,EAW69134,AAA98117,AAI40906,AAC50188,AAC50189,Q11128 Hs.631843 FUC-TV alpha (1,3) fucosyltransferase|alpha-(1,3)-fucosyltransferase|fucT-V|fucosyltransferase V|galactoside 3-L-fucosyltransferase protein-coding 1350852 FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,20179215,19349624,21203500,11698403,18274891,17054948,16344560,14702039,14514715,12670495,12477932,11530205,10900002,10536043,9373149,8175676,8125298,7782074,7656588,7650030,1520296,1339443 2528 NM_000150,NG_007505,AC024592,CH471139,L01698,AF131211,AK098073,AK225795,AK313130,BC061700,DA426469,DA622182,DA628976,M98825,U27331,U27332,U27333,U27334,U27335,U27336,NM_001040701,U27337 NP_001035791,NP_000141,EAW69136,EAW69137,EAW69138,EAW69139,AAB03078,AAD33509,BAG35950,AAH61700,AAA99222,AAC50190,AAC50191,AAC50192,AAC50193,AAC50194,AAC50195,AAC50196,P51993,Q6P7E6 Hs.631846,Hs.705615 FCT3A|FLJ40754|FT1A|Fuc-TVI|FucT-VI alpha-(1,3)-fucosyltransferase|fucosyltransferase VI|galactoside 3-L-fucosyltransferase protein-coding 1353646 FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq] 1580863 20428816,19851296,20198315,11698403,8207002,18452157,18402946,17760744,17436081,17229154,16482509,15926890,15579466,15489334,15464988,15262995,15164053,12506041,12477932,11825883,8051184,11425803,11404359,9592127,9147044,8626519,8182079 2529 NM_004479,NG_007527,AB012668,AL807752,AK313124,BC032357,BC074746,BC086312,U08112,U11282,X78031 NP_004470,BAA32819,CAI12771,BAG35944,AAH74746,AAH86312,AAA56869,AAA20468,CAA54962,Q11130 Hs.457 FucT-VII alpha-(1,3)-fucosyltransferase|fuc-TVII|fucosyltransferase VII|galactoside 3-L-fucosyltransferase|selectin ligand synthase|selectin-ligand synthase protein-coding 1344316 FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) This enzyme belongs to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternatively spliced variants encoding different isoforms have been identified. 1580863 19179362,20379614,11698403,9133635,17488527,16344263,14568171,14514715,12477932,12438718,11093814,10814706,10764839,10580126,10343104,9368041,9110174,8619474,2829950,2649653,2542563,2541446,2187500,21203500,20802204 2530 AK294242,NM_178155,NM_178156,NM_178154,NM_004480,NM_178157,AB032573,BC142958,BQ962258,CR617923,D89289,Y17976,Y17977,Y17978,Y17979,AB049828,AF038280,AF038281,AL109847,AL161871,AL355840,AL359236,CH471061,AB049740,AF052088,AJ514324,AJ514325,AJ536053,AJ536054,AJ536055,AJ536056,AJ539535,AJ539536,AK292413,BC025385,BC093889,BC101816,GM744701,HB446569 BAG57538,NP_835368,NP_835369,NP_835367,NP_004471,NP_835370,BAA92858,BAA92859,AAI01817,AAI42959,BAA19764,CAA76985,CAA76986,CAA76987,CAA76988,Q546E0,Q8IUA5,Q9BYC5,BAB40975,AAB92372,EAW80911,EAW80912,EAW80913,EAW80914,EAW80915,EAW80916,EAW80917,BAB40929,CAD55804,CAD55805,CAD59924,CAD59925,CAD59926,CAD59927,CAD62444,CAD62445,BAF85102,AAH93889,CAV31713,CAZ91290 Hs.654961 MGC26465 GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase|GDP-fucose--glycoprotein fucosyltransferase|alpha-(1,6)-fucosyltransferase|alpha1-6FucT|glycoprotein 6-alpha-L-fucosyltransferase protein-coding 732098 FUT9 fucosyltransferase 9 (alpha (1,3) fucosyltransferase) FUT9 is one of several alpha-3-fucosyltransferases that can catalyze the last step in the biosynthesis of Lewis antigen, the addition of a fucose to precursor polysaccharides. FUT9 synthesizes the LeX oligosaccharide (CD15), which is expressed in organ buds progressing in mesenchyma during human embryogenesis.[supplied by OMIM] 1580863 11698403,10386598,18395013,16282604,15489334,14702039,14574404,12626397,12477932,12417923,12107078,11278338,10929005,10622713,10575236,8889548,19460885,20379614 10690 AL034348,AL139108,AL512406,AL512447,CH471051,AB023021,AJ238701,AK095046,AK293817,AK314966,AL080093,AL833558,AY800264,BC036101,CK299829,CK904220,CR593111,NM_006581 NP_006572,CAI14863,EAW48510,EAW48511,BAA81685,CAB41890,BAG57222,BAG37467,AAV67966,AAH36101,Q5Q0U2,Q9Y231,ABM85049 Hs.49117 Fuc-TIX alpha-(1,3)-fucosyltransferase|fucT-IX|fucosyltransferase IX|galactoside 3-L-fucosyltransferase protein-coding 1602203 FUZ fuzzy homolog (Drosophila) 16493421,16189514,12477932,16712791 80199 NM_025129,AC006942,CH471177,AK026341,AK057964,AK295072,AK315445,BC004445,BC010092,BC016793,CR592794,CR595499,CR607071,CR609003,CR613541,CR616619,CR621655,BU073247,CB152506,NM_001171937,NR_033269 NP_079405,EAW52538,EAW52539,EAW52540,EAW52541,EAW52542,EAW52543,BAB15454,BAG58119,BAG37833,AAH04445,AAH10092,AAH16793,Q9BT04,NP_001165408 Hs.288800 FLJ22688|FY protein fuzzy homolog protein-coding 736128 FXC1 fracture callus 1 homolog (rat) FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM] 1580863 9731230,16344560,15489334,14726512,14702039,12477932,11489896,10611480,10552927,20877624 26515 NM_012192,AC084337,CH471064,AF150105,AF152355,AF183415,AI052126,AK002130,AK058048,AK311763,BC011014,CR595140,CR599487,CR607360,DA290694 NP_036324,EAW68706,AAD40011,AAF15105,AAG09684,BAG51018,BAG34706,AAH11014,Q9Y5J6 Hs.726081 TIM10B|TIMM10B|Tim9b OTTHUMP00000213157|fracture callus protein 1|mitochondrial import inner membrane translocase subunit Tim9 B protein-coding 1604403 FXN frataxin This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 2307049,1582636,2307051,2307048,2307050,2307045,1598961 15827563,15641778,15581888,15534367,15489334,15304363,15247478,15233994,15180699,14962663,12755598,12477932,12354789,12354077,12140189,12019217,11862710,11857753,11823441,11810294,11121205,11020385,10903947,10900192,10874325,10732799,12785837,18537827,15123683,17285345,15961414,15509595,18160053,18424449,17468497,19259763,19182486,18768799,18759347,18725397,18697824,18687468,18682748,18597733,18581197,18464277,18425540,18379460,18045804,18045775,17703324,17478498,17331979,17262846,17098208,16857735,16787388,16713569,16677095,16608849,16263703,16203742,16091420,20889968,20569261,10545606,10428860,10399865,9989622,9779809,9737785,9700204,9331900,9326946,9302253,9241271,9241270,9180083,9150176,8841185,8596916,7485155,19913121,20628086,17207965,20873749,20877624,20819074,19064571,19104905,19376812,19679182,19772192,19843162,19956589,20053667,20461801,20506029,20808827 2307049,1582636,2307051,2307048,2307050,2307045,1598961 2395 NM_181425,NM_000144,NG_008845,NM_001161706,AF028240,AL162730,CH471089,U43752,U43753,U93173,U93174,U93175,Y13751,AA232366,AI951739,AK308620,BC023633,BC048097,BF058880,U43747 NP_852090,NP_000135,NP_001155178,AAB84047,CAH71829,EAW62473,EAW62474,AAA98508,AAA98509,AAD00734,AAD00735,AAD00736,CAA74077,AAH23633,AAH48097,AAA98510,O96034,Q16595,ADQ32463 Hs.20685 CyaY|FA|FARR|FRDA|MGC57199|X25 OTTHUMP00000215688|frataxin, mitochondrial|friedreich ataxia protein 2316052 GLUCO208_H protein-coding 1323342 FXR1 fragile X mental retardation, autosomal homolog 1 The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. 1580863 7781595,9642279,10888599,9817930,17382880,17290396,17081983,16381901,16169070,15968590,15782174,15592455,15489336,15489334,12878157,12477932,11735223,11438699,11076863,10567518,10556305,10527928,10196376,9373149,9259278,8668200,8634689,8125298,7489725,20696395,20442204,18029348,18628314,19487368,19571811 8087 AF075028,NM_001013439,NM_005087,NM_001013438,AC008009,CH471052,CQ834608,CQ834610,AK225334,AK292633,AU280585,AY341428,BC010382,BC028983,BX956500,CR596956,U25165,X90874,BQ016986,AK294603,AK297254,AK297331,AK302197,DC352767 NP_001013457,NP_005078,NP_001013456,EAW78365,EAW78366,EAW78367,EAW78368,EAW78369,EAW78370,EAW78371,EAW78372,CAH05519,CAH05520,BAF85322,AAQ20045,AAH28983,AAC50155,CAA62382,P51114,Q14341,CAL37935,CAL38042,CAL38373,BAG57790,BAG59733,BAG59790,BAG63558 Hs.478407 FXR1P OTTHUMP00000212641|OTTHUMP00000212642|OTTHUMP00000212645|fragile X mental retardation syndrome-related protein 1|hFXR1p protein-coding 1315950 FXR2 fragile X mental retardation, autosomal homolog 2 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. [provided by RefSeq] 1580863 16344560,18029348,19060904,19487368,19615732,7489725,16189514,17353931,9259278,17081983,16713569,15592455,15489334,15144186,12477932,11438699,10888599,10662545,10567518,10196376,9437788,8668200,20211142,20442204,10556305,20562859 9513 AA593676,DA114906,NM_004860,AC007421,AC016876,AF044263,CH471108,FJ695203,AK226082,AK313836,BC020090,BC051907,BC067272,BT009817,U31501,NG_028105 NP_004851,AAC03357,EAW90154,EAW90155,BAG36569,AAH20090,AAH51907,AAH67272,AAP88819,AAC50292,P51116,Q86V09 Hs.52788 FMR1L2|FXR2P fragile X mental retardation syndrome related protein 2|fragile X mental retardation syndrome-related protein 2|fragile X-mental retardation 1-like 2 protein-coding 734187 FXYD1 FXYD domain containing ion transport regulator 1 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq] 68780,1580863 20371314,16341674,9169143,18052210,18000745,17309881,16921169,16288923,15489334,14597563,12535606,12477932,10950925,10811636,10087003,7999001,20861470,20720179,19638348,19879113 68780 5348 NM_021902,NM_005031,AC020907,AA524547,AK289811,BC032800,BM856555,CR617501,H57207,R46545,R72515,U72245,CS488920 NP_068702,NP_005022,BAF82500,AAH32800,AAC51286,O00168,ABW03689,ABW03332,CAM55994 Hs.442498 MGC44983|PLM FXYD domain containing ion transport regulator 1 (phospholemman)|fxyd domain-containing ion transport regulator 1|phospholemman protein-coding 1342669 FXYD2 FXYD domain containing ion transport regulator 2 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The Type III integral membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit to be functional, it is thought that the gamma subunit modulates the enzyme's activity by inducing ion channel activity. Mutations in this gene have been associated with renal hypomagnesaemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1598986,1580863 20379810,9048881,18448590,18000745,17316900,15489334,15252450,14702039,12907667,12477932,11832419,11112438,11062458,10950925,10559186,9915957,9600999,9463334,9405479,7916648,7566098,19865785,19879113,15071553 1598986 486 NM_021603,NM_001127489,NM_001680,NG_011543,AF241235,AF316896,AP000757,CH471065,AA309757,AA814197,AF241236,AK096069,BC005302,BC013289,BT006721,BX641053,DQ786191,U50743 NP_067614,NP_001120961,NP_001671,AAG34359,AAG34360,AAG37906,AAG37907,EAW67325,EAW67326,AAG34361,BAC04693,AAH05302,AAH13289,AAP35367,AAB09425,P54710,Q16668,Q8N8W8 Hs.413137 ATP1G1|HOMG2|MGC12372 ATPase, Na+/K+ transporting, gamma 1 polypeptide|Na(+)/K(+) ATPase subunit gamma|Sodium-potassium-ATPase, gamma polypeptide|sodium pump gamma chain|sodium/potassium-transporting ATPase subunit gamma protein-coding 1348403 FXYD3 FXYD domain containing ion transport regulator 3 This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 16712791,20805335,7836447,19109419,18000745,17409496,17077088,16344560,16288923,16003754,15489334,14654946,12535606,12477932,10950925,8521420,7566098,16169070,20364041,19571376,19893046,19955746,20112499 5349 NM_001136007,NM_021910,NM_001136011,NM_001136012,NM_005971,NM_001136008,NM_001136009,NM_001136010,AC020907,AA298900,AK311689,AW250864,BC005238,BC090044,BE793135,BI715233,BM549935,BQ676323,BQ682674,BT006712,BU185141,CA948888,CB128589,CR456945,CR542197,DA438143,DA890604,DB202948,U28249,U31214,X93036 NP_001129479,NP_068710,NP_001129483,NP_001129484,NP_005962,NP_001129481,NP_001129480,NP_001129482,AAH05238,AAH90044,AAP35358,CAG33226,CAG46994,AAA73922,AAA90912,CAA63604,Q13254,Q14802 Hs.301350 MAT-8|MAT8|MGC111076|PLML FXYD domain-containing ion transport regulator 3|chloride conductance inducer protein Mat-8|mammary tumor 8 kDa protein|phospholemman-like protein protein-coding 735874 FXYD4 FXYD domain containing ion transport regulator 4 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. [provided by RefSeq] 15489334,15164054,12975309,12763854,12535606,12477932,12217851,11483503,10950925 53828 NM_173160,AL512654,CH471160,AA759244,AI829935,AY358584,BC054876,BF507928,BG432244,NM_001184963 NP_775183,CAI17065,EAW86592,EAW86593,EAW86594,AAQ88947,AAH54876,P59646,ADR82693,NP_001171892 Hs.130497 CHIF FXYD domain-containing ion transport regulator 4|OTTHUMP00000035334|channel-inducing factor|fxyd domain-containing ion transport regulator 4 protein-coding 1605677 FXYD5 FXYD domain containing ion transport regulator 5 This reference sequence was derived from AF161462.1 and ESTs; validated by multiple replicate ESTs and human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, has not been characterized as a protein. Two transcript variants have been found for this gene, and they are both predicted to encode the same protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu.] 20712010,11756660,19217217,18677652,18263667,17442482,17437014,17084448,16333245,15751018,15619642,15489334,15466191,15459499,15102690,12975309,12970317,12477932,11342114,11042152,10950925,7566098,16341674,20944097,19913121,20628086 53827 BT007343,NM_144779,NM_014164,AC002390,AC020907,AA044211,AA296696,AB072911,AF161462,AF177940,AI424071,AK304012,AY157582,AY358991,BC009642,BC013834,BC018798,BG025158,BQ183683,BU178888,BM839241,BQ440098,BQ941279,BU164524,NM_001164605,NR_028406,HI574352,HI574354 NP_659003,NP_054883,BAB83766,AAF29077,AAG09301,BAG64927,AAO13166,AAQ89350,AAH09642,AAP36007,Q8IWS1,Q96DB9,ABM92202,ABM84673,NP_001158077,CBX47665,CBX47666 Hs.333418 DYSAD|HSPC113|IWU-1|IWU1|KCT1|OIT2|PRO6241|RIC|dysad FXYD domain-containing ion transport regulator 5|dysadherin|keratinocytes associated transmembrane protein 1 protein-coding 735925 FXYD6 FXYD domain containing ion transport regulator 6 This reference sequence was derived from multiple replicate ESTs and validated by human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD6, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu.] 1580863 12975309,11256614,18455306,17357072,16381901,16169070,15489336,15489334,14702039,11076863,12477932,10950925,11230166,7566098,16344560,20149392,20468077 53826 AP000757,CR611120,NM_022003,CH471065,AK055389,AK092198,AK289629,AK290757,AK311736,AL035858,AL136699,AL832811,AY358976,BC018652,BC093040,BT006717,CR533457,CR593024,CR597623,CR600841,CR603146,CR604290,CR604957,CR606899,CR608496,CR609230,CR611517,CR614352,CR617323,CR618485,CR618856,CR623064,CR625268,BX460202,DA001721,DA086584,DA779545,NG_013071,NM_001164831,NM_001164832,NM_001164836,NM_001164837,W92638 NP_071286,EAW67327,EAW67328,EAW67329,EAW67330,EAW67331,EAW67332,EAW67333,EAW67334,EAW67335,EAW67336,EAW67337,BAF82318,BAF83446,CAB66634,CAI46171,AAQ89335,AAH18652,AAH93040,AAP35363,CAG38488,Q9H0Q3,CAL37789,CAL37993,ABM92255,ABM84740,NP_001158303,NP_001158304,NP_001158308,NP_001158309 Hs.713437 FXYD domain-containing ion transport regulator 6|fxyd domain-containing ion transport regulator 6|phosphohippolin protein-coding 1349556 FXYD6P1 FXYD domain containing ion transport regulator 6, pseudogene 1 53825,100128934 AL022345,NG_017128 pseudo 1347597 FXYD6P2 FXYD domain containing ion transport regulator 6, pseudogene 2 100128512,53824 AL117339,NG_017125 pseudo 1344306 FXYD6P3 FXYD domain containing ion transport regulator 6, pseudogene 3 53823 732780 FXYD7 FXYD domain containing ion transport regulator 7 This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu.] 1580863 19913121,20628086,15489334,12477932,12093728,10950925,9447982 53822 NM_022006,AC020907,AI929519,AK057825,BC018619,CR596488,CR598444 NP_071289,AAH18619,P58549,ABM83415,ABM86626 Hs.134729 FLJ25096 FXYD domain-containing ion transport regulator 7 protein-coding 1350598 FXYD8 FXYD domain containing ion transport regulator 8 406875 NG_009946,AL353804 CAI41451 FXYD6P3 pseudo 1603714 FYB FYN binding protein (FYB-120/130) 19798671,19807924,20164171,20379614,17474147,10747096,9207119,18802088,17785790,17511475,16980616,16831444,16503409,16461356,16020549,15849195,15843031,15144186,14702039,12477932,12458214,10942756,10856234,10570256,10502464,10497204,9755858,9748251,9671755,9115214,7504057,10469599 2533 NM_001465,AC008964,AC010633,AC025471,CH471119,NM_199335,AF001862,AF116653,AF198052,AI961953,AK123918,AK130159,AK290403,AK297077,BC015933,BC017775,BC058827,BC117449,BC143645,BX647195,BX647196,CD691549,CD701507,U93049 NP_955367,NP_001456,EAW55981,EAW55982,EAW55983,EAW55984,EAW55985,AAB62226,AAF71073,AAF62400,BAF83092,BAG59594,AAH15933,AAI17450,AAI43646,AAC51300,O15117,Q05DE9,Q9NZI9,Q9P1I1 Hs.370503 ADAP|PRO0823|SLAP-130 FYB-120/130|FYN-T-binding protein|FYN-binding protein|FYN-binding protein (FYB-120/130)|OTTHUMP00000221178|OTTHUMP00000221179|OTTHUMP00000221180|SLP-76-associated phosphoprotein|adhesion and degranulation promoting adaptor protein|adhesion and degranulation-promoting adaptor protein|p120/p130 protein-coding 1319203 FYCO1 FYVE and coiled-coil domain containing 1 1580863 20562859,15489334,15342556,14702039,12477932,11896456,20100911,20237496,20379614 79443 NM_024513,AC099782,CH471055,AA628466,AJ292348,AK023397,AK074165,AL832358,AL833308,BC007218,BC101468,BC101470,BP249484,BX537863,CR595276,BC143368 NP_078789,EAW64753,CAC33883,BAB14559,BAB84991,CAD91151,CAD89924,AAH07218,AAI01469,AAI01471,Q9BQS8,AAI43369 Hs.200227 DKFZp779K1152|FLJ13335|MGC126517|MGC126519|RUFY3|ZFYVE7 FYVE and coiled-coil domain-containing protein 1|RUN and FYVE domain containing 3|zinc finger FYVE domain-containing protein 7 protein-coding 731929 FYN FYN oncogene related to SRC, FGR, YES This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq] 2298729,1358600,1580863,1358602,1358593,704404,2324970,2324866,2324864 19913121,20628086,8910336,8810341,8805554,8805332,8798684,8760790,8756631,8681387,8655574,8631859,8626376,8621719,8621384,8566014,8483935,8395016,8394019,8262983,8104794,7929439,7760813,7687536,7682059,7681396,7664083,7595520,7589480,7589101,7589084,7565724,7545683,7537495,7525550,7521304,7517401,7516469,7515933,7504057,3526330,3330788,3099169,1985196,1717997,1715582,1699196,1696179,1544885,1530920,1454062,15494732,10571082,20658524,20682987,20855525,15713745,15708437,15588985,15557120,15537652,15536091,15514010,15489334,15345598,15345594,15206927,15190072,15175272,15144186,15098360,15082191,14999081,14980517,14761972,14761954,14757743,14702039,14675807,14662334,14647465,14574404,14517306,14506255,12932824,12917446,12857875,12846735,12835311,12788081,12730241,12697812,12695509,12670706,12668668,12640114,12589038,12545174,12538589,12529448,12526739,12524444,12509223,10435619,10383400,10339567,10224664,10212213,10209036,10196263,10092522,10089404,10022833,9973379,9890970,9856337,9837978,9837776,9822663,9804857,9799234,9763511,9756930,9741627,9712716,9710204,9687533,9677430,9674711,9648856,9603925,9576921,9573028,9553134,9535867,9535845,9531288,9507006,9446569,9425276,9417082,9368621,9366405,9360983,9351806,9207119,9196040,9195918,9195899,9188452,9185665,9121430,9118959,9104812,9091579,9079653,9060467,9047237,9045636,9038134,8995379,8980254,8961927,12496362,10447714,16831868,14993658,7822789,7722293,8264796,1361685,10858437,15611048,19330793,19131339,18978678,18922801,18849153,18842137,18710921,18628988,18564062,18337055,18267011,18180382,18174230,18089558,18056706,17943724,17703099,17701175,17599905,17417065,17334644,17192257,17130124,17129785,16891393,16888650,16882656,16860569,16782058,16777849,16713569,16597701,16503409,16400523,16237174,16145685,16115884,16014719,15925565,15872086,12477932,12471123,12458214,12450793,12426371,12419528,12408980,12374739,12372285,12370810,12368035,12237775,12218089,12181444,12096713,12089510,12084815,11994282,11983687,11943848,11943772,11839780,11826099,11820784,11806999,11777936,11744621,11741929,11739737,11711534,11684709,11677266,11598189,11594778,11546790,11536198,11526103,11483655,11466305,11423543,11356869,11353545,11298344,11278857,11239464,11204284,11162638,11158295,11121167,11087735,11075717,11024032,11005864,10945997,10921922,10896916,10872802,10871840,10867021,10816433,10804218,10799548,10790433,10764799,10744724,10733577,10708762,10591186,10586033,10570256,10564280,10551884,10532312,10498895,10482988,10458595,1385527,1351058,1334406,8671590,9344703,9269777,9043947,8883579,16454711,10642173,7588629,9778343,9351809,15638726,15078178,14965316,10544125,7859737,12171928,9748251,9632142,11741599,11960376,12558988,10636929,9892651,12244174,12138090,11724572,8058772,9750131,10739664,9846481,8294442,11278378,10571044,9169421,11483358,1446976,1387715,11604131,119942,12660731,16316995,16374509,16818765,16899217,16938345,17164290,17189269,17474147,19258392,19258394,19468241,19501919,19542604,19567819,19690143,19733625,19805512,19807924,19816407,19917775,19955046,19968749,20056178,20056645,7642581,82,8493579,9028946,9032261,9295288,9344857,9819391,16387660 2298729,1358600,1358602,1358593,2324970,2324866,2324864 2534 NM_002037,NM_153048,NM_153047,AL109916,AL158035,CH471051,Z97989,AB451293,AB451426,AK056699,BC032496,M14333,M14676,S74774 NP_002028,NP_694593,NP_694592,EAW48278,EAW48279,EAW48280,EAW48281,EAW48282,EAW48283,EAW48284,CAI22299,CAI22300,CAI22301,BAG70107,BAG70240,BAG51788,AAH32496,AAC08285,AAA36615,AAB33113,P06241,Q5R3A8 Hs.390567 MGC45350|SLK|SYN OKT3-induced calcium influx regulator|OTTHUMP00000017916|OTTHUMP00000017917|c-syn protooncogene|p59-Fyn|protein-tyrosine kinase fyn|proto-oncogene Syn|proto-oncogene c-Fyn|proto-oncogene tyrosine-protein kinase fyn|src-like kinase|src/yes-related novel|tyrosine kinase p59fyn(T)|tyrosine-protein kinase Fyn protein-coding 1345293 FYTTD1 forty-two-three domain containing 1 737633 16381901,15862967,15489336,12477932,11230166,11076863,16169070,19836239 737633 84248 NM_001011537,NM_032288,NR_027840,AC024560,AC055764,CH471252,AJ344094,AK027672,AK296283,AK302546,AK303462,AK315019,AK316308,AL136558,BC013602,BC035006,BC039734,BX509179,CR533502,H97483 NP_001011537,NP_115664,EAW92240,EAW92241,CAC51432,BAB55284,BAH12300,BAH13737,BAH13966,BAG37509,BAH14679,CAB66493,AAH35006,AAH39734,CAG38533,Q96QD9,CAL37931 Hs.277533 DKFZp761B1514|UIF OTTHUMP00000208028|OTTHUMP00000208031|OTTHUMP00000208032|UAP56-interacting factor|forty-two-three domain-containing protein 1|protein 40-2-3 protein-coding 4109105 FYTTD1P1 forty-two-three domain containing 1 pseudogene 1 100128665 AL359893,NG_012326 FLJ20300 pseudo 736261 FZD1 frizzled homolog 1 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq] 2298699,2293491,1580863 19543507,19453261,19421142,19148501,18715140,18382662,17895994,17496152,16442268,15489334,15370539,15252441,14739301,12853948,12690205,12477932,12067714,12012019,10557084,9813155,9707618,20634891,18929644,19277043,19388021,20051274 2298699,2293491 8321 NM_003505,AC084381,CH236949,CH471091,AB017363,AF072872,AK314996,AL049994,BC017719,BC051271,CR597493 NP_003496,AAS02008,EAL24161,EAW76871,BAA34666,AAD41636,BAG37492,AAH51271,Q9UP38 Hs.94234 DKFZp564G072|FLJ95923 Wnt receptor|frizzled, Drosophila, homolog of, 1|frizzled-1|fz-1|fzE1|hFz1 protein-coding 1347205 FZD10 frizzled homolog 10 (Drosophila) This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq] 2293491,1580863 20634891,20037267,20227380,15930302,16007199,18271942,10448064,19137009,19134005,15489334,12477932,11786918,11597177,9707618 2293491 11211 CS531806,NM_007197,AC026336,CH471054,AB027464,AI697875,AL556202,BC070037,BC074997,BC074998,CR606242 CAM84938,NP_009128,EAW98507,BAA84093,AAH70037,AAH74997,AAH74998,Q6NSL8,Q9ULW2 Hs.31664 CD350|FZ-10|Fz10|FzE7|hFz10 frizzled 10|frizzled-10 protein-coding 732091 FZD2 frizzled homolog 2 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The expression of the FZD2 gene appears to be developmentally regulated, with high levels of expression in fetal kidney and lung and in adult colon and ovary. [provided by RefSeq] 2298699,2298700,1580863,4107053 20634891,19910923,8626800,19308021,18929644,18215320,15489334,12839624,12477932,12067714,9813155,9707618,15146197,7829101,7558010,19038973,19946729,19388021 2298699,2298700,4107053 2535 NM_001466,AC103703,CH471178,AB017364,BC052266,BC113402,BC113404,L37882,AI376463,AW023425,CN417837 NP_001457,EAW51591,BAA34667,AAH52266,AAI13403,AAI13405,AAB46397,Q14332,Q86UZ8 Hs.142912,Hs.597264 Fz2|fz-2|fzE2|hFz2 frizzled-2|fz-2|fzE2|hFz2 protein-coding 732935 FZD3 frizzled homolog 3 (Drosophila) This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. [provided by RefSeq] 2293492,704404,1582654,1582650,1582649,1582651,1580863 15364045,15340161,15274031,14642436,12477932,12011974,11407985,10873558,9192640,9147651,10777673,10491302,19054571,18702828,18584117,18212053,17982906,16707163,15657645,18583979,19038973,20219685,18256285,19277043,16344560,20206998,20819778,8889548 2293492,1582654,1582650,1582649,1582651 7976 NM_017412,AC011132,CH471080,AB039723,AJ272427,AK291480,AY005130,BC034278,BC042009,BU676090,DA250029,NM_145866 NP_059108,EAW63511,BAA94968,CAB89114,BAF84169,AAF89088,Q9NPG1,AAI56294,AAI72481,NP_665873 Hs.40735,Hs.642795 Fz-3|hFz3 frizzled-3 protein-coding 736680 FZD4 frizzled homolog 4 (Drosophila) This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq] 2298702,1598999,1580863 10544037,19453261,19172507,19020754,18787502,18161623,18156211,17386109,17093393,20713528,14688793,20938005,15981244,15370539,15489334,15488808,15223780,15195140,15024691,14737064,12958364,12477932,12172548,12067714,12044878,11401527,9707618,1598965,20634891,15035989,17955262,19277043,20008721,20141357,20340138,19388021,20819778 2298702,1598999 8322 NM_012193,NG_011752,AB083613,AP001528,CH471076,AB032417,AB054881,AK025516,AK025791,AK292768,AY462097,BC025750,BC114527,BC114622 NP_036325,BAB89326,EAW75147,BAA86286,BAB40811,BAF85457,AAR23924,AAI14528,AAI14623,Q8TDT8,Q9BY80,Q9ULV1 Hs.591968 CD344|EVR1|FEVR|FZD4S|Fz-4|FzE4|GPCR|MGC34390 WNT receptor frizzled-4|frizzled-4|hFz4 protein-coding 1345907 FZD5 frizzled homolog 5 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq] 1580863 12490564,12839624,12857724,18174455,19453261,19543507,19643732,20525402,8626800,9054360,18838381,18230341,18077588,17273778,16890161,16601243,15815621,15694380,15370539,15338479,12477932,11520064,11408929,11230166,11029007,9707618,9192640 7855 NM_003468,AC096772,CH471063,AB043702,AK000125,AK024850,AL136852,BC035962,BC048322,BC058895,BC095474,BC114346,BF059357,CR533442,CR594249,U43318 NP_003459,AAY24058,EAW70426,BAB60959,CAB66786,CAG38473,AAC50385,Q13467,AAI56525,AAI72518 Hs.17631 C2orf31|DKFZp434E2135|HFZ5|MGC129692 Wnt receptor|frizzled-5|fz-5|fzE5|seven-transmembrane receptor frizzled-5 protein-coding 1343855 FZD6 frizzled homolog 6 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD6 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and 7 transmembrane domains. However, unlike many other Fz family members, FDZ6 does not contain a C-terminal PDZ domain-binding motif. [provided by RefSeq] 2293492,1580863 9480858,19543507,19453261,19034702,17516841,16344560,15489334,15370539,14747478,12477932,10347172,8626800,15265686,18029348 2293492 8323 AB065702,AC025370,AF363578,CH471060,CQ834498,AB012911,AF072873,AK296824,AK299341,AK304092,AK313789,AK316544,AU130184,BC036106,BC060836,BX640609,CD652975,CR623773,NM_003506,AB209734,AW511572,DC417200,DC418286,NM_001164615,NM_001164616 NP_003497,BAC05925,AAL50384,EAW91867,EAW91868,EAW91869,EAW91870,EAW91871,EAW91872,EAW91873,CAH05464,BAA25686,AAD41637,BAG59395,BAG61342,BAG64998,BAG36526,BAH14915,AAH60836,CAE45715,O60353,BAD92971,NP_001158087,NP_001158088 Hs.591863 FZ6|HFZ6|Hfz6 frizzled-6|fz-6|seven transmembrane helix receptor protein-coding 1314691 FZD7 frizzled homolog 7 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq] 2292645,1580863,2316755 9707618,19543507,19453261,18978678,18951430,18681827,18676680,18592008,18313787,18256285,18156211,17716656,17016432,16713569,16189514,15901282,15489334,15370539,15195140,12477932,12067714,9813155,9192640,18215320,20634891,11256614,19170196,19625176,19655379,19692168,19773752 2292645,2316755 8324 NM_003507,AC069148,CH471063,AB010881,AB017365,BC015915 NP_003498,AAX93250,EAW70298,BAA32424,BAA34668,AAH15915,O75084 Hs.173859 FzE3 Frizzled, drosophila, homolog of, 7|frizzled-7|fz-7|hFz7 protein-coding 1350514 FZD8 frizzled homolog 8 (Drosophila) This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq] 1580863 11295046,18505162,18464913,15454084,15370539,15164054,12477932,11520064,11452312,11448771,11076863,11029007,9192640,8626800,20634891,18256285,20093360 8325 NM_031866,AL121749,CH471072,AB043703,AF086500,CR590011 NP_114072,CAC10185,EAW85909,BAB41064,Q9H461,AAI11846 Hs.302634 FZ-8|hFZ8 frizzled 8|frizzled-8 protein-coding 734067 FZD9 frizzled homolog 9 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq] 2292645,1580863 9147651,19543507,19038973,18832655,16835228,16189514,15705594,15370539,12853948,12477932,12138115,10198163,9707618,9192640,914765,14688793,20458727,20501643,19724923,20398908 2292645 8326 NM_003508,NG_012028,AC005049,CH471200,BC026333,U82169 NP_003499,AAQ93359,EAW69682,AAH26333,AAC51174,O00144,Q8TAN2,ABM84300,ABM87695 Hs.647029 CD349|FZD3 frizzled-9|fz-9|fzE6|hFz9 protein-coding 1318646 FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 11598127,15469984,10548110,11340163,11931757,18662541,18381934,18321983,18212744,18174259,17339342,17283060,17215516,15489334,15057824,15014503,12797865,12560341,12477932,12198152,11691834,11003657,10574462,10500174,9811605,12956947,15916961,15144564,9734353,11988738,15029244,12791267,10793135,20530197,19861496,11459826,16287863,17207965,20921411,11459825,16169070,17719540,18162579,20508983,9637688 51343 NM_016263,NM_001136197,NM_001136198,AC005786,AC005787,CH471139,AB013462,AB013463,AB033068,AF080397,AF083810,AF102507,AF102508,AF433157,BC013413,BC111760,BT007115,DB462260 NP_057347,NP_001129669,NP_001129670,AAC62836,AAC62835,EAW69313,EAW69314,EAW69315,BAA86954,BAA86955,BAA86556,AAF20266,AAD52030,AAD26623,AAD26624,AAL28117,AAH13413,AAP35779,Q9UM11,ABM81665,ADQ32810 Hs.413133 CDC20C|CDH1|FZR|FZR2|HCDH|HCDH1|KIAA1242 CDC20-like 1b|CDC20-like protein 1|cdh1/Hct1 homolog|fizzy-related protein homolog protein-coding 1604363 G0S2 G0/G1switch 2 18636162,16710414,16341674,16086669,15489334,12477932,10645953,9428793,1930693,19706769,19816938,19878646 50486 NM_015714,AL031316,CH471100,M69199,M72885,AV709160,BC009694,BM788126,BT007101,CR542179,CR542193 NP_056529,CAB40150,EAW93447,AAB04044,AAA58966,AAH09694,AAP35765,CAG46976,CAG46990,P27469,Q6FGC8,ABM85536,ABW03730 Hs.432132 RP1-28O10.2 G0/G1 switch regulatory protein 2 protein-coding 1321062 G2E3 G2/M-phase specific E3 ubiquitin ligase 1580863 16344560,16189514,15489334,14702039,12477932,11483598,10718198,9373149,8125298,14667819,18029348,18511420,17239372 55632 NM_017769,AL117355,CH471078,AB037754,AI432917,AK000340,AK022867,AK093536,AK225346,AK295571,AK296872,BC000973,BC008436,BC040179,CR612214,DA491192 NP_060239,EAW65969,BAA92571,BAA91095,BAB14280,BAG58471,BAG59435,AAH00973,AAH40179,Q49AD9,Q7L622 Hs.509008,Hs.605081 FLJ20333|KIAA1333|PHF7B G2/M phase-specific E3 ubiquitin-protein ligase|G2/M-phase specific E3 ubiquitin ligase|PHD finger protein 7B protein-coding 4107151 G30 G30 transcript 12364586,12647258,15194506,15271585,15477870,15546984,15653269,15738936,16402132,16791105,17179078,17179866,17651942,18165970,18775646,19189879,19937977 282706 AY138548 AAN08434,Q8IU97 Hs.558713 DAOA-AS|DAOAAS|G30 miscrna 1604397 G3BP1 GTPase activating protein (SH3 domain) binding protein 1 This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. 9889278,8649363,17696235,17297477,17210633,17081983,16996479,16565220,16094384,15782174,15602692,15489334,15471883,15302935,15144186,14702039,12642610,12477932,11888885,11604510,11439350,10404389,9632780,9373149,8125298,1461655,17353931,20424128,20562859,20696395,20663914,20643132,15743820,17253181,18029348,19615732,20180778 10146 NM_005754,NM_198395,AC091982,CH471062,CQ834172,AK091592,AK130003,AK222606,AK309172,AK312572,BC006997,BC108278,BG703413,BT019384,BU517281,BX647869,BX648012,CR536535,CR601908,CR614415,CR625819,U32519,X78262,AK300098,AK303580 NP_005745,NP_938405,EAW61659,EAW61660,EAW61661,EAW61662,CAH05301,BAC85272,BAD96326,BAG35467,AAH06997,AAI08279,AAV38191,CAI46065,CAI46067,CAG38772,AAB07787,Q13283,Q32P45,Q53HH4,Q5HYE9,Q5U0Q1,Q6FI03,Q6ZP53,ABM83984,ABM87307,BAG61899,BAH13990 Hs.587054 G3BP|HDH-VIII|MGC111040 ATP-dependent DNA helicase VIII|G3BP-1|GAP SH3 domain-binding protein 1|GAP binding protein|Ras-GTPase-activating protein SH3-domain-binding protein|RasGAP-associated endoribonuclease G3BP|ras GTPase-activating protein-binding protein 1 protein-coding 1602228 G3BP2 GTPase activating protein (SH3 domain) binding protein 2 17353931,9575347,17297477,10969074,17081983,16344560,16341674,15782174,15489334,15345747,12477932,9734811,9110174,8619474,16973615,17474147,18029348,19615732 9908 NM_203504,NM_203505,NM_012297,AC104828,CH471057,AA781267,AB014560,AF051311,AF053535,AF070615,AF145284,AI913597,AK291772,AK291786,BC011731,BI560692,BM744299,CB996973,CD706717,DA094091,DA385285,DB241424 NP_987100,NP_987101,NP_036429,EAX05742,EAX05743,EAX05744,EAX05745,EAX05746,EAX05747,EAX05748,BAA31635,AAC15705,AAC95292,AAD51932,BAF84461,BAF84475,AAH11731,Q9UN86 Hs.303676 G3BP-2|GAP SH3 domain-binding protein 2|OTTHUMP00000219241|Ras-GTPase activating protein SH3 domain-binding protein 2|ras GTPase-activating protein-binding protein 2 protein-coding 736011 G6PC glucose-6-phosphatase, catalytic subunit Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). [provided by RefSeq] 1300048,2302970,2302850,2302851,1582633,704404,728661,1580863,2315963,2315965,2315966,2315959,2315960 9428641,7573034,8211187,10318794,12093795,19587243,19082990,18847435,18805788,18660489,18449899,18008183,17354259,16893891,16892178,15918042,15696478,15661744,15316959,14759518,14718531,13129915,12560945,12556524,12477932,12444104,12373566,12189168,11739393,11672436,10960498,10748407,10612834,10452914,10447271,10094563,10026167,10024523,10023055,9705299,9675154,9332655,9001800,8733042,8640227,8612793,8182131,7774924,7668282,7655466,7623438,2986020,2547044,2172641,212064,175958,19832742,20004937,20509832 2302970,2302850,2302851,1582633,728661,2315963,2315965,2315966,2315959,2315960 2538 NM_000151,NG_011808,AC016889,AF051355,CH471152,X96937,AK303771,AK313982,BC130478,BC136369,U01120 NP_000142,AAD11621,EAW60901,EAW60902,CAA65638,BAG64735,BAG36695,AAI30479,AAI36370,AAA16222,O95179,P35575,Q6LAP7,ADR83154 Hs.212293 G6PT|GSD1|GSD1a|MGC163350 G-6-Pase|G6Pase|G6Pase-alpha|glucose-6-phosphatase|glucose-6-phosphatase alpha protein-coding 1344189 G6PC2 glucose-6-phosphatase, catalytic, 2 This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq] 20571754,20622168,20628598,20668700,16493034,16012821,15044018,14722102,12815107,12477932,11297555,10078554,10078553,19125775,19096518,19082990,19060910,19060907,18984742,18753309,18521185,18451265,17607665,17376840,16520917,19238352,19533084,19651812,19669124,19741163,19741166,19937311,20029179,20081858,20816152,20826583,20858683,21036910 57818 NM_021176,NM_001081686,NG_011682,AC069137,AF283575,AF283835,CH471058,AK310853,BC104778,BC113376,BQ268961,CA865646,CR627438 NP_066999,NP_001075155,AAY24099,AAF82810,EAX11291,AAI04779,AAI13377,CAH10524,Q9NQR9,ADR82936 Hs.283963 IGRP|MGC141936 G-6-Pase 2|G6Pase 2|glucose-6-phosphatase 2|islet-specific G6CP-related protein|islet-specific glucose-6-phosphatase catalytic subunit-related protein|islet-specific glucose-6-phosphatase-related protein 2314777 GLUCO106_H protein-coding 735418 G6PC3 glucose 6 phosphatase, catalytic, 3 Glucose-6-phosphatase (G6Pase) is located in the endoplasmic reticulum (ER) and catalyzes hydrolysis of G6P to glucose and phosphate, the last step of the gluconeogenic and glycogenolytic pathways. G6PC3 is a ubiquitously expressed G6Pase catalytic subunit (Martin et al., 2002 [PubMed 12370122]; Guionie et al., 2003 [PubMed 12965222]).[supplied by OMIM] 737633,1302399,2302851,2302970,2302850 19118303,12965222,12477932,12370122,18337100,16341674,20498302,20616219,20220065,20799326,21048031 737633,1302399,2302851,2302970,2302850 92579 NM_138387,AC023855,CH471178,BC002494,BC021574,BC062596,BM790097,CR590248,CR590923,CR591259,CR595523,CR597546,CR598130,CR598996,CR601615,CR605360,CR607017,CR607320,CR608514,CR608544,CR609384,CR613351,CR615676,CR617855,CR619652,CR622205,CR623861,CR624359,CR625794,DB460416,NG_015818,NR_028581,NR_028582 NP_612396,EAW51636,EAW51637,EAW51638,AAH02494,AAH21574,Q9BUM1 Hs.294005 SCN4|UGRP G-6-Pase 3|G6Pase 3|G6Pase-beta|glucose-6-phosphatase 3|glucose-6-phosphatase catalytic subunit 3|ubiquitous glucose-6-phosphatase catalytic subunit-related protein|ubiquitously expressed G6Pase catalytic subunit-related protein protein-coding 736474 G6PD glucose-6-phosphate dehydrogenase This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1625539,2307345,2307350,2307352,2307353,2307337,2307347,2307348,2307349,2307340,2307361,1599574,704404,1599812,1300048,1580863 20602793,20628086,19913121,15622766,16255851,17637841,17877203,19465117,19497363,19632868,19811411,19858149,19896395,19941843,19996424,20007901,20017397,20032314,20113600,20200584,20203002,20459687,20507315,2297768,18558634,16272653,18494377,18493020,18458302,18376107,18302154,18226470,18215251,18173836,18164966,18086567,18066402,18056001,18046504,18043863,17959407,17660836,17653668,17611006,17587269,17557555,17524386,17499234,17264545,17077204,17018380,17007653,16944148,16934959,16927025,16859949,16792831,16637741,16607506,16569302,16532971,16483869,16461316,16356170,16331553,15466166,15330559,15315792,15307413,15282679,15223006,15476167,14757426,14757424,14614139,12972027,12921788,12850494,12768444,12737943,12737940,12737938,12696079,12680285,12665801,12641410,12616531,12588050,12524354,12497642,12477932,12439228,12380870,12378426,12135480,12130518,11920200,11877026,11876979,11874436,11857737,11852882,11793482,11499668,11440553,11237690,11112389,11042039,11024211,10745013,10698963,10627140,10089300,10087986,9233561,8826878,8733135,8533762,8490627,8466644,8364584,8356804,8193373,7959695,7858267,7857286,7825590,6696761,3515319,3446582,3393536,3126064,3012556,2912069,2910917,2836867,2758468,2428611,1945893,1889820,1874446,1611091,1536798,1303182,1303180,16236267,16155737,16143877,16137669,16136268,16088936,16059744,16020776,15957246,15951569,15914531,15906719,15906717,15864125,15772651,15766741,15748456,15727905,15718915,15659240,15598086,15592455,15558953,15506519,15489334,20684792,20621077,20582980,20447239,15858258,5643703,5666113,17516514,12027950,17361089,2420826,18029348,11256614,743300,19640310,19594365,19589177,19422023,19419973,19359662,19336475,19323016,19317913,19272180,19224086,19223928,19219640,18985093,18677765,18660489,20118060,20236109,20514852,20520804,21125776 1625539,2307345,2307350,2307352,2307353,2307337,2307347,2307348,2307349,2307340,2307361,1599574,1599812 2539 NM_000402,NG_009015,AF277315,AY158096,AY158097,AY158098,AY158099,AY158100,AY158101,AY158102,AY158103,AY158104,AY158105,AY158106,AY158107,AY158108,AY158109,AY158110,AY158111,AY158112,AY158113,AY158114,AY158115,NM_001042351,AY158128,AY158129,AY158130,AY158131,AY158132,AY158133,AY158134,AY158135,AY158136,AY158137,AY158138,AY158139,AY158140,AY158141,AY158142,CH471172,DQ173568,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173597,DQ173598,DQ173599,DQ173600,DQ173601,DQ173602,DQ173603,DQ173604,DQ173605,DQ173606,DQ173607,DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,DQ173613,DQ173614,DQ173615,DQ173616,DQ173617,DQ173618,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173632,DQ173633,DQ173634,DQ173635,DQ173636,DQ173637,DQ173638,DQ173639,DQ173640,DQ173641,DQ173642,DQ832766,L44140,M23423,M65234,S64462,X53815,DQ173631,X55448,AK292304,AK302341,AL560686,BC000337,CR606589,CR624380,M19866,M21248,M27940,S58359,X03674,AY158116,AY158117,AY158118,AY158119,AY158120,AY158121,AY158122,AY158123,AY158124,AY158125,AY158126,AY158127,FB718764,FB719134,HB869941,HC892663,HC895939,HC898862,HC899672,HC903214,HC908383,HC915319,HC927350 NP_001035810,NP_000393,AAL27011,AAN76367,AAN76368,AAN76369,AAN76370,AAN76371,AAN76372,AAN76373,AAN76374,AAN76375,AAN76376,AAN76377,AAN76378,AAN76379,AAN76380,AAN76381,AAN76382,AAN76383,AAN76384,AAN76385,AAN76399,AAN76400,AAN76401,AAN76402,AAN76403,AAN76404,AAN76405,AAN76406,AAN76407,AAN76408,AAN76409,AAN76410,AAN76411,AAN76412,AAN76413,EAW72682,EAW72683,EAW72684,EAW72685,EAW72686,EAW72687,ABB90566,ABC25732,ABC25737,ABC25742,ABC25747,ABC25752,ABC25757,ABC25761,ABC25766,ABC25771,ABC25776,ABC25781,ABC25786,ABC25791,ABC25796,ABC25801,ABC25806,ABC25811,ABC25816,ABC25821,ABC25826,ABC25831,ABC25836,ABC25841,ABC25846,ABC25851,ABC25856,ABC25861,ABC25866,ABC25871,ABC25876,ABC25881,ABC25886,ABC25891,ABC25896,ABC25901,ABC25906,ABC25911,ABC25916,ABC25921,ABC25926,ABC25931,ABC25936,ABC25941,ABC25946,ABC25951,ABC25956,ABC25961,ABC25966,ABC25971,ABC25976,ABC25981,ABH03569,AAA92653,AAB59390,AAA63175,AAB20299,CAA37811,CAA39089,BAF84993,BAG63669,AAH00337,AAA52501,AAA52500,AAA52504,AAB26169,CAA27309,P11413,Q0PHS1,Q0PHS4,Q2Q9B7,Q2Q9H2,Q2VF42,ABM83145,ABM86341,AAN76386,AAN76387,AAN76388,AAN76389,AAN76390,AAN76391,AAN76392,AAN76393,AAN76394,AAN76395,AAN76396,AAN76397,AAN76398,CAS91929,CAS92163,CBF59097,CBN60799,CBN62406,CBN63835,CBN64257,CBN66061,CBN68546,CBN71894,CBU84341 Hs.461047,Hs.684904 G6PD1 OTTHUMP00000196180|glucose-6-phosphate 1-dehydrogenase|glucose-6-phosphate dehydrogenase, G6PD protein-coding 1346544 G6PDL glucose-6-phosphate dehydrogenase-like 3752086 2540 1347726 G6PR glucose-6-phosphatase regulator 2541 1348449 G6PT2 glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2 9598717 2544 1352161 G6PT3 glucose-6-phosphatase, transport (glucose) protein 3 2545 1353103 G7P1 kinase-like protein 2546 1353184 GAA glucosidase, alpha; acid This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,18429042,8486380,9505277,10931430,7717400,18757064,18607768,18458862,18425781,18301443,18285536,17915575,17616415,17592248,17293352,17213836,17210890,17092519,17056254,16917947,16782080,16433701,16335952,15993875,15668445,15520017,15489334,15313146,15145338,14695532,12923862,12754519,12601120,12477932,12065598,11973631,11854868,11738358,11071489,11027569,10737124,10338092,10206684,10189220,9660056,9554747,9535769,9521422,8935410,8912788,8834250,8786092,8558570,8435067,8401535,8094613,7981676,7945303,7881425,7881422,7866409,7695647,7603530,3049072,2268276,2203258,2111708,1898413,1856189,1684505,1652892,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177,1678778,12560567,11752220,8794362,8794361,8416962,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,16052631,19343043,19362502,19609281,19834502,20080426 2548 M34425,X55079,X55080,AK299462,AW515241,BC015908,BC040431,BQ711289,CR602301,CR617840,DQ907243,M34424,S76893,Y00839,NM_000152,NM_001079803,NM_001079804,NG_009822,AC087741,CH471099 EAW89583,CAC12967,BAH13042,AAH40431,ABI53718,AAA52506,AAB33842,CAA68763,CAA68764,P10253,NP_000143,NP_001073271,NP_001073272,EAW89581,EAW89582 Hs.1437 LYAG acid maltase|aglucosidase alfa|lysosomal alpha-glucosidase protein-coding 1322354 GAB1 GRB2-associated binding protein 1 The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1642762,2299174 19913121,20602450,20628086,20677014,10455108,10871282,11353842,11402314,12008033,12773374,14660651,14973141,14982882,16638574,19665053,19881549,20005866,20237496,9045692,15489334,15379552,15351743,15010462,14702039,14701753,12855672,12808090,12766170,12522270,12486104,12477932,12370245,12138161,12065326,11960376,11940581,11896055,11707404,11701952,11507676,11432805,11360177,11323411,11314042,11278704,11134009,10995442,10978177,10753869,10747014,10068651,10022866,9890893,9878555,9252406,9242692,9891995,12748184,12819203,12582165,11894096,20936779,8596638,9658397,19167335,9356464,10648629,10734310,10913131,11606067,14560030,14665621,15574420,19233262,18577518,18192688,18003605,17625596,17211494,17178724,17145761,16849525,16787925,16687399,16344560,15952937,15940252,15815621,15665327 1642762,2299174 2549 NM_207123,NM_002039,AC097658,AC104685,CH471056,DQ021880,AK022142,AK074381,AK289767,AK295684,AK314635,AL049449,BC030115,BC064848,DA109618,DA249555,U43885 NP_997006,NP_002030,AAY40964,EAX05072,EAX05073,AAY26398,BAB13970,BAB85065,BAF82456,BAH12155,AAH64848,AAC50380,Q13480,Q8TE87,Q9HA84 Hs.80720,Hs.618456 GRB2-associated binder 1|GRB2-associated-binding protein 1|OTTHUMP00000220263|growth factor receptor bound protein 2-associated protein 1 protein-coding 737428 GAB2 GRB2-associated binding protein 2 This gene is a member of the GRB2-associated binding protein (GAB) gene family and is similar to the GAB1 gene. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq] 704404 12477932,12140767,12135708,11997510,11971018,11895767,11882361,11830491,11812650,11782427,11701952,11572860,11466412,11402314,11334882,11287610,10752981,12008033,10704825,10455108,10391903,10068651,9628581,15143164,15574337,20936779,21102462,20888920,19342374,19276544,19262956,19233262,19204163,19172738,18854865,18853460,18697750,18644434,18314909,18272374,18235045,17998934,17553421,16736498,16369543,16253990,15952937,15750601,15356145,15010462,14687710,12819203,12522270,20634593,19913121,20534741,20574532,20628086,10871282,10913131,12176364,16219545,16344560,16368877,19118819,19509136,19523899,19641626,19749422,19838208,19881546,19924507,20188796,20237496,20413850,20087860 9846 NM_080491,NM_012296,AP002985,AP003086,CH471076,AA865573,AB011143,AB018413,BC131711,BC152459,CR600944,AI858080,BY799914,DA674753,DB636423,NG_016171 NP_536739,NP_036428,EAW75057,EAW75058,BAA25497,BAA76737,AAI31712,AAI52460,Q9UQC2 Hs.429434 KIAA0571 GRB2-associated-binding protein 2|Grb2-associated binder 2|growth factor receptor bound protein 2-associated protein 2|pp100 1643405 BMD9_H protein-coding 1353554 GAB3 GRB2-associated binding protein 3 This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 12640125,11997510,11943184,11739737,19913121,20628086,12773374,19430480,20237496 139716 NM_001081573,NM_080612,AC107450,AC109993,CH471172,AI799102,AK126283,AK307927,AL832051,AY057989,BQ574803,CN481476,NG_012834 NP_001075042,NP_542179,EAW72664,EAW72665,EAW72666,EAW72667,BAG54302,AAL25825,Q8WWW8,AAI41540 Hs.496982 DOS/Gab family member 3|GRB2-associated binder 3|GRB2-associated-binding protein 3|Gab3 scaffolding protein|growth factor receptor bound protein 2-associated protein 3 protein-coding 1350229 GAB4 GRB2-associated binding protein family, member 4 19240061,14702039 128954 NM_001037814,AC006548,CH471193,AB076978,AK057252,HC044765 NP_001032903,EAW57735,BAD06454,Q2WGN9,CBH30712 Hs.434113 GAB2-like|GRB2-associated binder 2-like protein|GRB2-associated binder 4|GRB2-associated-binding protein 2-like|GRB2-associated-binding protein 4|growth factor receptor bound protein 2-associated protein 4 protein-coding 736805 GABARAP GABA(A) receptor-associated protein Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq] 1643329,1580863,4890444 16874098,16339017,16303767,16169070,15977068,15695379,14625090,12507496,12477932,12367594,11997026,11979730,11948245,11890701,11885988,11875056,11825910,11779480,11729197,11727986,11727985,11461150,11414770,11042152,10984509,10931946,10900017,10899939,10856287,9892355,11096062,11146101,15169837,19154346,18638487,17581966,17164261,20665069,17353931,19250911,19363302,19533740,20111057,20562859,20820800 1643329,4890444 11337 NM_007278,AC120057,CH471108,AB030711,AF044671,AF067171,AF161586,AF183425,AK098634,AK312205,BC106748,BC106749,CR457043,CR542235,CR592433,CR597728,CR624246,U65413 NP_009209,EAW90234,EAW90238,BAB21549,AAD02337,AAD32455,AAD47641,AAG09694,BAG35138,AAI06749,AAI06750,CAG33324,CAG47031,O95166,Q6IAW1 Hs.647421 ATG8A|FLJ25768|MGC120154|MGC120155|MM46 gamma-aminobutyric acid receptor associated protein|gamma-aminobutyric acid receptor-associated protein protein-coding 1317596 GABARAPL1 GABA(A) receptor-associated protein like 1 1300523,1580863,4890444 20628624,15604093,19549685,20197771,18541383,20562859,9892355,15292400,11256614,19001416,16704426,16431922,16381901,16189514,15489336,15489334,14702039,14625090,12477932,11414770,11374880,11230166,11076863,8495796,19250911 1300523,4890444 23710 AC115676,CH471094,AF087847,AF287012,AK056846,AK074195,AK092075,AK124150,AK303581,AK315418,AL136676,BC008891,BC009309,BC028315,BX648781,CR533480,CR591381,CR593137,CR595003,NM_031412,CR598360,CR599698,CR602506,CR602628,CR605097,CR605544,CR610376,CR611326,CR612549,CR615029,CR616129,CR616417,CR618651,CR618974,CR619385,CR619810,CR619851,CR620458,CR621758,CR622237,CR622348,CR622808,CR623363,CR623491,CR624563,CR626218,CR626234 NP_113600,EAW96164,EAW96165,EAW96166,EAW96167,EAW96168,EAW96169,EAW96170,AAK20399,AAK55962,BAG64599,BAG37807,CAB66611,AAH09309,AAH28315,CAG38511,Q9H0R8,CAL38063,CAL38067,ABM84029,ABM87374 Hs.524250 APG8-LIKE|APG8L|ATG8|ATG8B|ATG8L|GEC1 GABA(A) receptor-associated protein-like 1|GEC-1|early estrogen-regulated protein|gamma-aminobutyric acid receptor-associated protein-like 1|glandular epithelial cell protein 1 protein-coding 735450 GABARAPL2 GABA(A) receptor-associated protein-like 2 1300523,1643329,4890444 10747018,11414770,12507496,15169837,11256614,18776740,18768753,16381901,16303767,16189514,15489336,20029029,20562859,15489334,12477932,12473658,11890701,11146101,11076863,17353931,16169070,12581858,11096062,11825910,15604093,19250911,19533740,19844255,20468064 1300523,1643329,4890444 11345 NM_007285,AC025287,CH471114,AB030710,AF077046,AF087848,AJ010569,AK289788,AK311266,BC005985,BC014594,BC029601,BC040312,CR542217,CR592344,CR603478,CR621062,CR624907 NP_009216,EAW95629,EAW95630,BAB21548,AAD27779,AAK20400,CAA09249,BAF82477,AAH05985,AAH14594,AAH29601,CAG47013,P60520,Q6FG91,CAL38202,ABM84027,ABM87372 Hs.461379 ATG8|ATG8C|GATE-16|GATE16|GEF2 GEF-2|MAP1 light chain 3 related protein|MAP1 light chain 3-related protein|gaba(a) receptor-associated protein like 2|gamma-aminobutyric acid receptor-associated protein-like 2|ganglioside expression factor 2|general protein transport factor p16|golgi-associated ATPase enhancer of 16 kDa protein-coding 1354441 GABARAPL3 GABA(A) receptors associated protein like 3 (pseudogene) 1300523,1580863 11414770 1300523 23766 CH471101,NR_028287,AC018946,AF180519 EAX02101,AAK16237,Q9BY60 Hs.592014 ATG8D pseudo 734108 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq] 2315437,2315462,2315492,1580863,2315971 20557420,9933300,9889352,9872744,9872316,9844003,9798068,9373149,8125298,7927650,15660124,20538960,2834384,18403780,18355961,18255321,18098271,17971048,17591780,17412563,17264536,16829628,16499773,16344560,16176975,15946333,15863499,15857448,15820424,15799783,15759131,15685626,15489334,15482257,15474078,15309313,15304491,14978362,14966130,14961561,14759258,14718537,14707142,14643764,14625043,14574404,12923192,12770685,12645817,12601092,12555235,12477932,12130687,12115687,11844143,11178869,11140838,11087824,10906333,10773016,10587080,10402495,10075644,9069281,17474147,9753614,19086053,19052921,19002745,18653317,17185339,20655478,20655479,20655480,20655481,20655482,20655483,20655490,16169070,16724110,19327013,19664746,19763258,19851445,20036641,20378664,20379614,20398908,20468064 2315437,2315462,2315492,2315971 2550 NM_001470,NM_021903,AB065476,AJ010170,AJ010191,AL031983,AL645936,AL662826,BX000688,NM_021904,CH471081,CR388210,CR759766,CR759870,CR788300,CR936483,CS059177,AB208790,AF099148,AF301005,AJ012185,AJ012186,AJ012187,AJ012288,AJ225028,AJ225029,AK223619,AK290191,AK312308,BC023336,BC041332,BC042598,BC050532,DA112662,DA400111,Y11044 CAA12359,NP_068704,NP_001461,NP_068703,BAC05730,CAA09031,CAA21453,CAA21454,CAI18015,CAI18016,CAI18017,CAI17389,CAI17390,CAI17391,CAI18604,CAI18606,EAX03205,EAX03206,EAX03207,EAX03208,EAX03209,EAX03210,EAX03211,EAX03212,CAQ09394,CAQ06608,CAQ06609,CAQ06610,CAQ09877,CAQ09878,CAQ09879,CAQ07761,CAQ07763,CAQ07764,CAQ10081,CAQ10082,CAI18605,CAQ10083,CAI79356,BAD92027,AAC98508,AAG23962,CAA09939,CAA09940,CAA09941,CAA09980,CAA12360,BAD97339,BAF82880,BAG35233,AAH41332,AAH42598,AAH50532,Q53EM0,Q59HG8,Q5SUJ9,Q71SG6,Q8IW08,Q8NHA5,Q9UBS5 Hs.167017 FLJ92613|GABABR1|GABBR1-3|GB1|GPRC3A|dJ271M21.1.1|dJ271M21.1.2 GABA-B receptor 1|GABA-B-R1|GABA-BR1|GABAB, subunit 1c|OTTHUMP00000109099|OTTHUMP00000214725|gamma-aminobutyric acid type B receptor subunit 1|seven transmembrane helix receptor protein-coding 731754 GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 B-type receptors for the neurotransmitter GABA (gamma-aminobutyric acid) inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters and the activity of ion channels and adenylyl cyclase. See GABBR1 (MIM 603540) for additional background information on GABA-B receptors.[supplied by OMIM] 1580863 18978678,18482426,17145756,16829628,15822905,15489334,15164053,14978362,14966130,14961561,14625043,12477932,11850456,11087824,10773016,10727622,10087195,10075644,16169070,15660124,11854302,10328880,9872316,19336370,19308021,19086053,19002745,20557420,20583170,20634891,17185339,16724110,19763258,20379614,20424473,7494864,9872317,2834384,18577758,20734064 9568 NM_005458,AL353782,AL356282,AL445495,AL591502,CH471105,CS059179,AB015334,AF056085,AF069755,AF074483,AF095784,AF099033,AJ012188,AK308139,BC031317,BC035071,BC055425,BX420187,BX452140,DB474482,NG_016426 NP_005449,CAH71298,CAH72233,CAD13322,CAI12581,EAW58889,EAW58890,EAW58891,CAI79357,BAA34793,AAC63228,AAC99345,AAD03336,AAD30389,AAD45867,CAA09942,AAH35071,O75899,O94794,ABM82657,ABM85834 Hs.198612 FLJ36928|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099 G protein-coupled receptor 51|G-protein coupled receptor 51|GABA-B receptor 2|GABA-B receptor, R2 subunit|GABA-B-R2|GABA-BR2|g protein-coupled receptor 51|gamma-aminobutyric acid type B receptor subunit 2|gb2 protein-coding 1321915 GABPA GA binding protein transcription factor, alpha subunit 60kDa This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. [provided by RefSeq] 1580863 19687146,19951946,19967722,20028934,20232342,17439941,10675337,7590737,18029348,9016666,19324871,19187944,19116932,18852034,18660489,18378679,18020712,17357964,17304221,17161026,16581781,16574658,15928042,15361867,12477932,12107413,11237613,10830953,10660899,10585419,9990060,9792629,9461436,9373149,20805158,8889548,8441384,8543189,8125298,7799916,7737900,15358217,16712791,9857059 2551 BU683067,NM_001197297,NM_002040,AP000087,AP000139,AP000226,CH471079,AI917898,AK223164,AK313545,BC035031,BG542623,BX117934,BX647755,CB132898,CD674081,CV575645,D13318,EU159453,U13044,EU627790 ACT64371,NP_001184226,NP_002031,EAX09967,EAX09968,EAX09969,BAD96884,BAG36321,AAH35031,BAA02575,ABV90873,AAA65706,Q06546,Q8IYS3,ABZ92005,ACE87836,ACD11490 Hs.473470 E4TF1-60|E4TF1A|NFT2|NRF2|NRF2A GA-binding protein alpha chain|GABP subunit alpha|human nuclear respiratory factor-2 subunit alpha|nuclear respiratory factor 2 alpha subunit|nuclear respiratory factor 2 subunit alpha|transcription factor E4TF1-60 protein-coding 1605717 GABPAP GA binding protein transcription factor, alpha subunit pseudogene 10393246,9373149,8441384,8125298,7958862,7737900 8327 NG_007342,AC092634,AF078104 E4TF1|E4TF1B|GABPB1 pseudo 1321019 GABPB1 GA binding protein transcription factor, beta subunit 1 This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 10675337,8441384,9016666,18660489,18020712,17726090,17357964,16713569,16412436,16344560,16189514,12477932,12016589,11953439,10585419,9792629,9461436,9242441,8816484,8383622,7958862,7799916,7737900,9857059,18029348,18343819,19060904,20028934 2553 NM_016654,NM_002041,NM_016655,NM_181427,AC022087,CH471082,AI631183,BC016910,BC036080,BC050702,BE644609,BQ430343,BQ573816,NM_005254,BT006652,CB960428,CR591958,D13316,D13317,DA156248,DA502761,EU159454,U13045,U13046,U13047,U13048,AK301350,AK303901 NP_005245,NP_057738,NP_002032,NP_057739,NP_852092,EAW77388,EAW77389,EAW77390,EAW77391,EAW77392,EAW77393,EAW77394,EAW77395,AAH16910,AAH36080,AAH50702,AAP35298,BAA02573,BAA02574,ABV90874,AAA65707,AAA65708,AAA65709,AAA65710,Q06547,ABM85058,ABZ92036,BAH13462,BAH14078 Hs.654350 BABPB2|E4TF1|E4TF1-47|E4TF1-53|E4TF1B|GABPB|GABPB2|NRF2B1|NRF2B2 GA-binding protein subunit beta-1|GABP subunit beta-1|GABP subunit beta-2|GABPB-1|GABPB-2|nuclear respiratory factor 2|transcription factor E4TF1-47|transcription factor E4TF1-53 protein-coding 1602655 GABPB2 GA binding protein transcription factor, beta subunit 2 9857059,14702039,12477932,7958862,20237496,20379614,20800603 126626 NM_144618,AL590133,AL592424,AL691467,CH471121,AK092230,AK301882,AK313606,BC027033,CR626488 NP_653219,CAI13351,CAI13352,CAI16391,CAI16392,CAH73759,CAH73760,EAW53473,EAW53474,EAW53475,BAC03833,BAG63315,BAG36371,AAH27033,Q8TAK5 Hs.654699 MGC29891|RP11-68I18.1 GA-binding protein subunit beta-2|GABP subunit beta-2|GABPB-2|OTTHUMP00000014077 protein-coding 730902 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863,704404 19913121,20583128,20628086,12367595,12232773,12225856,12210273,12091471,11992121,11140838,10512150,10449790,10050966,9655866,9373149,8175718,8133292,8125298,2847710,1330891,20132297,2465923,19219857,19086053,19078961,18922788,18821008,18818659,18723504,18639864,18534981,18292428,18197653,17972043,17880575,17670950,17440936,17360668,17011586,16839746,16792556,16778401,16770606,16627470,16569738,16530959,16412095,16344560,16294320,16172613,16123039,16029191,15955415,15542698,15489334,15201329,15196679,15033447,15016806,14996540,14961561,14706423,14631097,14625018,14569258,12645817,12529644,12477932,12367612,20427410,12574411,19705103,19944766,20083606,20356767,20468064,20551311,20692323 2554 NM_000806,BM927274,DA075784,DA228536,DA232066,DB485936,DB487114,DC307259,DC325179,DC334834,R60404,X13584,X14766,NM_001127643,NM_001127644,NM_001127645,NM_001127646,NM_001127647,NM_001127648,NG_011548,AC021079,AC108130,CH471062,S69334,AK223447,AK289792,AK295160,AV720972,AW148652,BC030696 AAH30696,CAA31925,CAA32874,P14867,Q53F42,ABM81841,NP_000797,NP_001121115,NP_001121116,NP_001121117,NP_001121118,NP_001121119,NP_001121120,EAW61537,EAW61538,EAW61539,BAD97167,BAF82481,BAG58174 Hs.175934 ECA4|EJM|EJM5 GABA(A) receptor subunit alpha-1|gamma-aminobutyric acid receptor subunit alpha-1 protein-coding 1349486 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19913121,20583128,20602615,20628086,19672139,19736351,19783384,19833324,19842164,19874574,20048764,20133874,20202923,20225194,20468064,8391122,19487630,19229201,19207358,19086053,19078961,18821008,18818659,18781239,18727688,18519829,18482426,18361719,18005236,17976953,17949392,17690794,17655760,17507911,17207817,16894595,16622805,16562401,16557364,16395124,16080114,15950776,15834213,15702134,15274050,15033447,15024690,14702039,12477932,10449790,10023064,8175718,20716301,20102561,20622020 2555 NG_012835,NM_000807,NM_001114175,AC093745,AC095060,AC104072,CH471069,AB209295,AK125179,AK289662,AK293466,AK307128,BC022488,BX108394,S62907,A28100 EAW93022,NP_000798,NP_001107647,AAY40994,EAW93023,EAW93024,EAW93025,BAD92532,BAG54159,BAF82351,BAH11514,AAH22488,AAB27278,P47869,Q4W5L8,Q8TBI4,CAA01918 Hs.116250 FLJ97076 GABA(A) receptor subunit alpha-2|OTTHUMP00000218332|OTTHUMP00000218333|OTTHUMP00000219668|OTTHUMP00000219670|gamma-aminobutyric acid receptor subunit alpha-2 protein-coding 732437 GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq] 1358628,1580863,1358391 19048400,19842164,19874574,20351714,20468064,8391122,17474147,18029348,19086053,19084931,19078961,19058789,18821008,18334916,18085588,17970773,16344560,15489334,15048654,15033447,14751442,12477932,11840313,11602034,11528422,11378843,11140838,10602120,9655866,9380754,8175718,2574000,2561974,20692323 1358628,1358391 2556 NM_000808,NG_007102,AC108171,AC116666,AF166361,AF282854,CH471169,AK312404,BC028629,DA402645,S62908,A28102 NP_000799,AAG12455,EAW99423,BAG35318,AAH28629,AAB27279,P34903,CAA01919,ABM83334,ABM86547 Hs.123024 MGC33793 GABA(A) receptor subunit alpha-3|gamma-aminobutyric acid receptor subunit alpha-3|gamma-animobutyric acid (GABA) A receptor, alpha 3 protein-coding 734147 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq] 1580863 19913121,20602615,20628086,8719416,19289452,19207358,19078961,18482426,18334916,17135278,17124266,16770606,16080114,14702039,12477932,12242096,12091471,10903861,8175718,7607683,19736351,19834535,19874574,20468064 2557 NM_000809,NG_011809,AC107383,CH471069,U20166,AF238869,AK090780,BC035055,BC036474,BC037926,BC042117,BI599812,U30461 NP_000800,EAW93029,AAA74743,BAG52228,AAH35055,AAB52519,P48169,ABM82605,ABM85790,ABW03406 Hs.248112 GABA(A) receptor subunit alpha-4|gamma-aminobutyric acid receptor subunit alpha-4 protein-coding 736048 GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq] 1358630,1358629,1580863,1358391 19913121,20628086,16344560,19736351,20468064,1321750,19328558,19086053,19078961,19058789,17957331,17680603,17580321,17353214,16674551,16080114,15882799,15489334,15033447,12477932,12048673,11378843,11287792,11140838,9668167,9205108,9126483,8388764,7851879,1338907,20692323 1358630,1358629,1358391 2558 AAB22608 AC145167,DA157081,DB506215,EU606048,NM_001165037,R49008,AC127511,AC135999,AC136992,AC145196,AF061785,NM_000810,AF228447,AF228448,AF228449,CH471151,AK290453,AK294303,AK303742,BC011403,BC111979,BC113422,BT009830,L08485,A28104 NP_001158509,NP_000801,AAC31809,AAF62508,AAF62509,AAF62510,EAW57656,EAW57657,BAF83142,BAG57584,BAG64714,AAI11980,AAI13423,AAP88832,AAA58490,AAB22608,P31644,CAA01920,ABM85193,ABW03702,ADR83173 Hs.24969 MGC138184 GABA(A) receptor subunit alpha-5|gamma-aminobutyric acid receptor subunit alpha-5 protein-coding 732651 GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq] 1580863 20583128,8632757,19086053,19078961,18616664,17440936,17295876,17167337,16778401,16402352,16344560,16172613,15542698,15489334,15466411,15197399,15196679,14744464,14702039,12477932,12232773,12080446,12079890,11140838,10023064,8175718,8020978,21041608,20100621,19523047,19598235,19842164,19874574,20468064 2559 NM_000811,AC091944,AF053072,CH471062,AK090735,AK289461,BC096241,BC096242,BC099640,BC099641,DA068807,S81944 NP_000802,AAD19830,EAW61542,BAG52222,BAF82150,AAH96241,AAH96242,AAH99640,AAH99641,AAB36480,Q16445,Q71UU0 Hs.90791 MGC116903|MGC116904 GABA subunit A receptor alpha 6|GABA(A) receptor subunit alpha-6|gamma-aminobutyric acid receptor subunit alpha-6 protein-coding 731063 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq] 1580863 2465923,19078961,18650446,18281286,17655760,16800828,16770606,16278087,15489334,15337300,12601092,12595241,12477932,11891318,11606067,11350968,11324945,11140838,11085308,10900018,10449790,10195104,10023064,9373149,8178835,8125298,2160058,1655634,1652891,1323140,1321150,15198677,19567891,19874574,20379614,20468064 2560 NM_000812,AC097712,AC105394,AC107392,AF285168,CH471069,AK225167,AK225686,AK293691,AK296023,AK307120,AK312720,BC022449,CR614851,DC352362,S70733,X14767,M59216 EAW93031,NP_000803,AAF88061,EAW93030,BAG57128,BAG58792,BAG35594,AAH22449,AAB30712,CAA32875,P18505,ABM83283,ABM84296,ABM86490,ABM87689,ABM87690,AAA35862,EAW93032 Hs.27283 GABA(A) receptor subunit beta-1|gamma-aminobutyric acid receptor subunit beta-1 protein-coding 735355 GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq] 1580863 20583128,15198677,17520021,18583979,19523047,19705103,19763268,19874574,19909288,20468064,8264558,19367581,19086053,19078961,18715757,18334916,18197653,18180429,17440936,17412563,17251430,17167345,16950232,16778401,16766085,16627470,16472798,16172613,15542698,15489334,15337300,15033447,15016806,14966130,14702039,14699426,14625018,14503638,12574411,12477932,12435728,12232773,12034717,11854302,11140951,11085308,10493732,10449790,10023064,9153573,8590827,8175718,7851879,7707873,1334482,1321150,20639197,20692323,20221451,20734064 2561 GU086163,NM_000813,NM_021911,AC008712,AC022120,AC091882,AC091989,CH471062,AK055125,AK289730,AK289815,AK294437,AK297609,BC036592,BC099705,BC099719,BC105639,CR621869,S67368,S77553,S77554,A28108 ACY69094,NP_000804,NP_068711,EAW61543,EAW61544,BAF82419,BAF82504,BAH11765,BAH12626,AAH99705,AAH99719,AAI05640,AAB29370,AAB33982,AAB33983,P47870,CAA01922 Hs.303527 MGC119386|MGC119388|MGC119389 GABA(A) receptor subunit beta-2|OTTHUMP00000160872|gamma-aminobutyric acid A receptor beta 2|gamma-aminobutyric acid receptor subunit beta-2 protein-coding 736139 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described. [provided by RefSeq] 1601268,704404,1580863,1601269 20550555,20634891,1664410,19430570,19268543,19086053,19078961,19058789,18978678,18837046,18821008,18650446,18514161,18452349,18358985,18281286,18085588,17957331,17880575,17471287,17339270,17326191,17272867,17230033,17225872,17215107,17124266,16835263,16674551,16080114,15767729,15615769,15489334,15337300,15318112,15296817,15066703,14724252,14702039,14503638,12640458,12595241,12491987,12477932,12367595,12225856,12189488,12048673,11920158,11810291,11711165,11140838,11085308,10023064,9328477,9126483,8389098,8382702,16023997,8175718,8136833,7851879,1714232,1346439,18467327,15198677,19598235,19717274,19734545,19736351,19874574,19937600,20379614,20468064 1601268,1601269 2562 M82919,NM_021912,NM_000814,AC009878,AC011196,AC104569,CH471151,L04311,AK056018,AK095011,AK295167,AK302822,AK315311,BC010641,BE783170,CR597025,DN994054,CD652458,NM_001191320,NM_001191321,NG_012836 AAA52511,P28472,Q68CS5,ABM82012,ABW03356,NP_068712,NP_000805,EAW57653,EAW57654,EAW57655,AAA52507,AAA52508,BAH11997,BAH13811,BAG37715,AAH10641,NP_001178249,NP_001178250 Hs.302352 ECA5|MGC9051 GABA(A) receptor beta-3 subunit|GABA(A) receptor subunit beta-3|GABA-A receptor beta-3 subunit|GABA-alpha receptor beta-2 subunit|GABAA receptor beta-3 subunit|gamma-aminobutyric acid receptor subunit beta-3 protein-coding 733681 GABRD gamma-aminobutyric acid (GABA) A receptor, delta Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq] 1580863 20561060,19874574,2176788,19289452,19086053,18406065,16713569,16710414,16344560,16256272,16189514,16023832,15489334,15115768,12477932,12119096,10965146 2563 NM_000815,NG_008168,AL391845,CH471183,AF016917,AI828107,AI936907,AK290861,AW291520,BC033801,BI824761,DA060315,DA064930 NP_000806,CAI15436,EAW56137,AAB70007,BAF83550,AAH33801,O14764,ABM82976 Hs.113882 EIG10|EJM7|GEFSP5|MGC45284 GABA(A) receptor subunit delta|GABA-A receptor, delta polypeptide|gamma-aminobutyric acid receptor subunit delta protein-coding 68441 GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq] 1580863 19874574,20468064,9039914,19087248,19086053,19078961,17714454,17615250,17293408,15946973,15755675,14702039,12477932,12367593,10804200,10023064,9339354,9185540,9084408,17207965,20609421 2564 NM_004961,NG_012511,AF274855,CH471169,U92283,Y09763,Y09764,AF086385,AK124085,AK299174,AK303072,AL603607,BC026337,BC047108,BC059376,CR591394,U66661,U92285,Y07637,Y09765 NP_004952,EAW99414,EAW99415,EAW99416,EAW99417,EAW99418,EAW99419,AAB94645,CAA70903,BAG61220,BAG64188,AAH26337,AAH47108,AAH59376,AAB49284,CAA68914,CAA70904,P78334,Q6PCD2,ADQ33039 Hs.22785 GABA(A) receptor subunit epsilon|OTTHUMP00000025893|gamma-aminobutyric acid receptor subunit epsilon protein-coding 732733 GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq] 1580863 20583128,19426171,19086053,18818659,17976953,17507911,16080114,14702039,12477932,11948245,10449790,1321425,19078961,19019179,19736351,20379614,20468064 2565 NM_173536,AC095058,AC096592,CH471069,AK122845,AK124800,AK289806,AK299884,BC031087,BX648937,CR933628 NP_775807,EAW93021,BAG53758,BAF82495,BAG61731,AAH31087,CAI45936,Q8N1C3,ABM81902,ABM85076 Hs.375051 DKFZp686H2042|MGC33838 GABA(A) receptor subunit gamma-1|gamma-1 polypeptide|gamma-aminobutyric acid receptor subunit gamma-1 protein-coding 1344590 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1358631,1580863 20583128,15229235,19019179,19553237,19650112,19682861,19705103,19834535,19842164,19854014,19874574,20098824,20356767,20468064,20485450,20132297,15028279,2538761,9892355,19523047,19522081,19428381,19292758,19236456,19219857,19086053,19078961,19065515,18825662,18755274,18566737,18292428,18197653,18175077,18085588,17927801,17880575,17641256,17440936,17162195,17124266,16806831,16627470,16412095,16344560,16172613,15955415,15772696,15542698,15489334,15470132,15342642,15257153,15033447,15016806,14981251,14966130,14736867,14702039,14625018,14593118,14569258,12759178,12694927,12672902,12477932,12384214,12367595,12367594,12232773,12225856,12117362,11948245,11748509,11328646,11326275,11326274,11140951,10659839,10449790,12574411,8875185,7851879,1321425,1321150,11779480 1358631 2566 NM_198903,NM_198904,NM_000816,NG_009290,AC008611,AC091926,AC091984,AF165124,CH471062,AK123394,AK299640,AK315200,BC036030,BC052926,BC059389,BC069348,BC074795,CD013896,CD013897,DA226729,X15376 NP_944493,NP_944494,NP_000807,AAD50273,EAW61532,EAW61533,EAW61534,EAW61535,BAG61563,AAH59389,AAH69348,AAH74795,CAA33437,P18507,Q6PCC3 Hs.7195 CAE2|ECA2|GEFSP3 GABA(A) receptor subunit gamma-2|gamma-aminobutyric acid receptor subunit gamma-2 protein-coding 733632 GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 1580863 20583128,12477932,11948245,11329013,10891602,8719414,8175718,7601451,19598235,19086053,19078961,19058789,18516948,18334916,17957331,16674551,16080114,14981720,14745296,10414349,19019179,19727025,19736351,19874574,20379614,20398908,20436377,20468064 2567 NM_033223,AC104002,AC127511,AC135326,AC136896,AC144833,AC145436,AF228458,AF269144,CH471151,EU606049,BC029850,BC045709,BG201662,BX282033,S82769,DN990720 NP_150092,AAF63215,AAF99698,EAW57658,EAW57659,AAB39369,Q99928 Hs.569475 GABA(A) receptor subunit gamma-3|gamma-aminobutyric acid receptor subunit gamma-3 protein-coding 737032 GABRP gamma-aminobutyric acid (GABA) A receptor, pi The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. [provided by RefSeq] 728637,1580863 20583128,9182563,19086053,19078961,16187283,16172613,15489334,14702039,12477932,10462548,10414965,10209232,12775419,19834535,20103740,20468064 728637 2568 NM_014211,AC008514,AC008815,AF009693,AF009694,AF009695,AF009696,AF009697,AF009698,AF009699,AF009700,AF009701,AF009702,CH471062,AK055205,AK292901,AK296805,AK300303,AL708685,BC074810,BC074865,BC109105,BC109106,CR599634,U95367,CS501268 NP_055026,AAC24194,EAW61466,EAW61467,EAW61468,BAG51486,BAF85590,BAG59378,BAG62056,AAH74810,AAH74865,AAI09106,AAI09107,AAC51357,O00591,CAM83950 Hs.26225 MGC126386|MGC126387 GABA(A) receptor subunit pi|gamma-aminobutyric acid receptor subunit pi protein-coding 731793 GABRQ gamma-aminobutyric acid (GABA) receptor, theta The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, theta subunit. It is mapped to chromosome Xq28 in a cluster including the genes encoding the alpha 3 and epsilon subunits of the same receptor. This gene location is also the candidate region of 2 different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq] 68250,1580863 10449790,19087248,19086053,19078961,15489334,12477932,10804200,10414349,19874574,20468064 68250 55879 NM_018558,AF002997,CH471169,AF144648,AF189259,BC109210,BC109211,NG_015965 EAW99424,AAD51172,AAF70380,AAI09211,AAI09212,Q15739,Q9UN88,NP_061028 Hs.283081 MGC129629|MGC129630|THETA GABA(A) receptor subunit theta|GABA-A receptor theta subunit|gamma-aminobutyric acid receptor subunit theta protein-coding 1346666 GABRR1 gamma-aminobutyric acid (GABA) receptor, rho 1 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. [provided by RefSeq] 1580863 20583128,12477932,19717338,20056107,20468064,12175859,20889312,1849271,10779366,19536785,19086053,19078961,18675255,18599601,18227272,18079559,16198491,15548535,15163459,14660627,14574404,12431995,12226075,11862606,11102469,10625616,10542332,9892354,9839716,9153229,7472519,1315307 2569 NM_002042,AL353135,AL353659,CH471051,AK296124,AK298948,AK313609,BC130344,DC403980,M62400 CAC36328,CAI16246,NP_002033,EAW48558,BAG58870,BAG61047,AAI30345,AAA52509,P24046 Hs.99927 MGC163216 GABA(A) receptor subunit rho-1|GABA(C) receptor|OTTHUMP00000209035|bA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho 1)|gamma-aminobutyric acid (GABA) A receptor, rho-1|gamma-aminobutyric acid receptor subunit rho-1 protein-coding 733076 GABRR2 gamma-aminobutyric acid (GABA) receptor, rho 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA receptor complex. [provided by RefSeq] 1580863 20583128,19167917,19536785,20222955,20468064,1315307,19086053,19078961,17913586,15489334,14574404,12660236,12477932,12431995,12175859,11102469,10542332,9839716,9153229,20889312 2570 NM_002043,AL121833,CH471051,AK293751,BC130352,BC130354,BX490975,M86868 NP_002034,CAC07339,EAW48557,BAG57173,AAI30353,AAI30355,AAA52510,P28476 Hs.719891 GABA(A) receptor subunit rho-2|GABA(C) receptor|GABA-C receptor, rho-2 subunit|gamma-aminobutyric acid receptor subunit rho-2 protein-coding 1352541 GABRR3 gamma-aminobutyric acid (GABA) receptor, rho 3 1580863 19086053,19078961,16641997,15617751,12431995,10542332 200959 AC026100,Y18994,CR749263,NM_001105580 NP_001099050,CAB60835,A8MPY1 Hs.534578 DKFZp781O1955 GABA(A) receptor subunit rho-3|GABA(C) receptor|OTTHUMP00000214141|gamma-aminobutyric acid receptor subunit rho-3 protein-coding 730853 GAD1 glutamate decarboxylase 1 (brain, 67kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq] 1300048,1302586,1580863 20598486,20602615,20634891,20659789,17474147,17726539,19321177,19548263,19783309,19874574,20201926,20357758,20859245,21041608,10671565,1549570,8954991,19428124,19367581,19328558,19156168,19139806,19111404,19086053,18837046,18783896,18470533,18335162,18047830,18294085,17918742,17767149,17652798,17553960,17471287,17412563,17384644,17325256,17303389,17235515,17113713,16718280,15836621,15806582,15571623,15542242,15505639,15489334,15147202,15114630,15103710,15091314,15014985,14702039,14681921,12774663,12515288,12477932,12376704,11140838,9973289,8507203,8507202,8088791,2039509,1697032,1683463,1339255,7836456,16189514,15681389,16722236,20832408,12750892,20236554 1302586 2571 NG_021477,NM_000817,NM_013445,AC007405,AY337516,CH471058,M86522,AF178853,AK127781,AK292582,AK307460,BC002815,BC026349,BC036552,BC037780,L16888,M55574,M70434,M81883,S61897,S61898,Z22750,A28074 NP_000808,NP_038473,AAY24237,AAP88035,EAX11228,EAX11229,EAX11230,AAA35900,AAF18390,BAF85271,AAH02815,AAH26349,AAH36552,AAH37780,AAB59427,AAA72938,AAA52512,AAA62368,AAB26937,AAB26938,CAA80435,Q09LL7,Q49AK1,Q8IVA8,Q99259,CAA01913,ABM83302,ABM86516 Hs.420036 FLJ45882|GAD|GAD67|SCP 67 kDa glutamic acid decarboxylase|GAD-67|OTTHUMP00000204990|OTTHUMP00000204993|OTTHUMP00000204994|OTTHUMP00000204995|glutamate decarboxylase 1|glutamate decarboxylase 67 kDa isoform protein-coding 733945 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq] 1300048,2313292,2313294,2313295,2313296,2313289,1302511,1580863,2313298 19913121,20602615,20628086,20634891,20659789,10671565,1549570,8954991,19156168,19125103,19111404,19086053,19058789,18487477,18378887,18371956,18367670,18184926,18047830,17992632,17657474,17479437,17459095,17412563,17384644,17167787,17090641,17034009,16741266,16731858,16718280,16122350,15836621,15834701,15671113,15642443,15365614,15277377,15170642,15163889,15147202,15114630,15091314,14691540,14576464,14557453,12606513,12503190,12477932,12376704,12356867,12296864,12197888,12196483,12097368,12021103,12021098,10814590,8999827,8243826,8088791,7836456,7680313,2039509,1924293,15603740,12750892,16385451,19229853,19686769,19783309,19874574,19876004,20010500,20016201,20083660,20201926,20379614,20468064 2313292,2313294,2313295,2313296,2313289,1302511,2313298 2572 NM_000818,NM_001134366,AL162503,AY340073,CH471072,AJ251501,AK127375,BC029517,BC039038,BC047899,BC126327,BC126329,BI438818,BP392604,M74826,M81882,X69936 NP_000809,NP_001127838,CAH73658,CAH73659,CAH73660,AAP88040,EAW86101,EAW86102,EAW86103,EAW86104,CAB62572,BAC86947,AAH29517,AAI26328,AAI26330,AAA58491,AAA62367,Q05329,Q4G154,Q5VZ29,Q5VZ30,Q5VZ31,Q6ZSK1,Q9UGI5,ADR83065 Hs.231829 GAD65|MGC161605|MGC161607 65 kDa glutamic acid decarboxylase|GAD-65|Glutamate decarboxylase-2 (pancreas)|glutamate decarboxylase 2|glutamate decarboxylase 65 kDa isoform 1643373,1643375,1643390,2289527 BW341_H,BW342_H,BW343_H,BW436_H protein-coding 733803 GADD45A growth arrest and DNA-damage-inducible, alpha This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. [provided by RefSeq] 1580863 20460379,11256614,16169070,18760377,19048389,19459735,19536092,19550118,19596022,19728081,19789190,20131288,20444249,15328371,7973727,10828065,10747892,7798274,19452502,19298651,19190346,19128509,19064572,19052873,18950845,18611122,18480060,18472964,18413758,18369439,18350249,18296737,18243530,17703175,17616671,17599061,17474084,17436581,17230496,17178890,17140287,16997058,16951143,16827157,16772293,16421274,16381901,16353139,16189514,16157202,15899854,15736438,15735726,15644315,15642443,15623356,15489336,15489334,15353598,15203190,14647444,14635187,14586402,14517299,14506229,12716909,12483522,12477932,12171872,12168790,11893252,11777930,11498536,11076863,10973963,10872826,10022855,9827804,8226988,7478594,7478510,1990262,15650754,12124778,10362260,7784094,10912791,12748288,9178907,9705499,15616591,21048031,20652500 1647 NM_001924,AL136120,AY135686,CH471059,L24498,AK314991,BC011757,CR608507,CR609553,CR611787,CR612467,CR612719,CR613302,CR623510,DQ008445,EF581092,EF614238,M60974,HI179176,BU629410,NM_001199741,NM_001199742 NP_001915,CAI23494,CAI23495,AAM88884,EAX06487,EAX06488,AAA72045,BAG37487,AAH11757,AAY25021,ABQ52427,AAA35863,P24522,Q5TCA7,Q5TCA8,CAL38317,ABM84155,ABM87557,CBX53896,NP_001186670,NP_001186671 Hs.80409 DDIT1|GADD45 DDIT-1|DNA damage-inducible transcript 1 protein|DNA damage-inducible transcript-1|DNA-damage-inducible transcript 1|growth arrest and DNA damage-inducible protein GADD45 alpha|growth arrest and DNA-damage-inducible 45 alpha|growth arrest and dna-damage-inducible 45 alpha protein-coding 1319220 GADD45B growth arrest and DNA-damage-inducible, beta This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq] 1580863 9827804,19064572,18576389,18515079,18343408,17591973,17485467,17437852,16144844,15642734,15546867,15509538,15489334,15057824,14630914,12855571,12759252,12716909,12477932,12162804,12124778,11498536,11078829,10973963,10872826,10828065,10773677,10101024,9151207,8700517,1899477,14743220,15616591,19834918,20558744,20530689,16256071,15342556,19877043,8889548 4616 NM_015675,AC005624,AF533019,CH471139,AF078077,AF087853,AF090950,AK129595,AK293087,AL050044,AY615270,AY615271,BC024654,BC113466,BC117469,BM670459,BP225713 Q6IX74,NP_056490,AAC34572,AAM92794,EAW69376,EAW69377,AAC83328,AAG48366,AAC36361,BAF85776,AAT38867,AAT38868,AAI13467,AAI17470,O75293,ADR83481 Hs.110571 DKFZp566B133|GADD45BETA|MYD118 growth arrest and DNA damage-inducible protein GADD45 beta|myeloid differentiation primary response protein MyD118|negative growth regulatory protein MyD118 protein-coding 1323436 GADD45G growth arrest and DNA-damage-inducible, gamma This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq] 1580863 19048389,19293565,15383276,9827804,19064572,18997345,18464913,17178890,16344560,16189514,16166418,15489334,15353598,15062559,14672412,12716909,12477932,12124778,11889197,11498536,11078829,11022036,10973963,10872826,10773677,10597261,10496071,10490824,10455148,7681987,20111973,20098747,20739400 10912 AF265659,AF494037,AL161910,CH471089,AF078078,AF079806,AF087883,AK313689,AY845250,BC000465,NM_006705,BC019325,BT007234,CR457038,CR591382,CR595761,CR601992,CR605667,CR617419,CR619521,D83023,DA420966 NP_006696,AAF73468,AAM00007,CAH71790,CAH71791,EAW62774,AAC83329,AAD28544,AAK00414,BAG36438,AAW29982,AAH00465,AAH19325,AAP35898,CAG33319,BAA84543,O95257,Q5MAI3,Q5VZ87,Q5VZ88,Q6IAW6,Q9UJS2 Hs.9701 CR6|DDIT2|GADD45gamma|GRP17 DDIT-2|DNA damage-inducible transcript 2 protein|GADD45-gamma|OTTHUMP00000021624|cytokine-responsive protein CR6|gadd-related protein, 17 kD|growth arrest and DNA damage-inducible protein GADD45 gamma protein-coding 1319487 GADD45GIP1 growth arrest and DNA-damage-inducible, gamma interacting protein 1 1580863 17207965,20098747,15489334,12716909,15231747,17885209,17804717,17069992,15459248,12482659,12477932,11710515,10441517,20427290 90480 NM_052850,AC092069,CH471106,AF412816,AF475095,AF479749,AJ295986,AJ429498,BC004944,BC013027,BC013039,BC069200 ADQ32003,NP_443082,EAW84335,AAL55291,AAM10639,AAL85877,CAC82499,CAD22344,AAH04944,AAH13027,AAH13039,AAH69200,Q7LAX7,Q8TAE8 Hs.515164 CKBBP2|CRIF1|MGC4667|MGC4758|PLINP-1|PRG6|Plinp1 CKII beta binding protein 2|CKII beta-associating protein|CR6 interacting factor 1|CR6-interacting factor 1|growth arrest and DNA damage-inducible proteins-interacting protein 1|p53-responsive gene 6 protein|papillomavirus L2 interacting nuclear protein 1|papillomavirus L2-interacting nuclear protein 1 protein-coding 1351528 GADL1 glutamate decarboxylase-like 1 12477932 339896 NM_207359,AC096921,AC138391,CH471055,AC095029,AL832766,BC093701,BC111986,AK128643 NP_997242,EAW64414,BAC87546,AAH93701,AAI11987,Q6ZQY3 Hs.657052 MGC138191 OTTHUMP00000222306|glutamate decarboxylase-like protein 1 protein-coding 1351546 GAGE1 G antigen 1 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The GAGE1 cDNA contains a 143-bp insertion, located in the coding sequence near the termination codon, that is absent from the other cDNAs.The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. An alternatively spliced transcript variant has been found for this gene. [provided by RefSeq] 1580863 7544395,18179644,17208940,12477932,10397259,9651357,20423514,12890744,14607688,15206491,15362791,16929165,17709385,17715884,20053773 2543 NM_001468,NM_001040663,AC142496,AC142497,BC005363,BC036094,DB448801,U19142,BC069470 NP_001459,NP_001035753,AAH05363,AAH36094,AAA82744,Q05DQ1,Q13065,ABM81885,ABM85053,AAH69470 Hs.278606 CT4.1|GAGE-1|MGC33825 G antigen 1|MZ2-F antigen|OTTHUMP00000025848|cancer/testis antigen 4.1|cancer/testis antigen family 4, member 1 protein-coding 1602944 GAGE10 G antigen 10 18179644,11329013 643832 NM_001098413,AF235097 NP_001091883,A6NGK3,AAI60111 Hs.709908 G antigen 10|GAGE-10 protein-coding 1606614 GAGE12B G antigen 12B 18179644,12477932,11329013 729428 NM_001127345,AC142497,BC130374,BC143615,BC143619 NP_001120817,AAI30375,AAI43616,AAI43620,A1L429 Hs.632812 GAGE-12B|GAGE12C|GAGE12D|GAGE12E|MGC163246 G antigen 12B/C/D/E|G antigen 12C/D/E|GAGE-12C|GAGE-12D|GAGE-12E|g antigen 12C/D/E protein-coding 1606349 GAGE12C G antigen 12C 18179644 729422 NM_001098408,AC142497 NP_001091878,A1L429 Hs.632812 GAGE-12B|GAGE12B|GAGE12D|GAGE12E G antigen 12B/C/D/E|G antigen 12C/D/E|GAGE-12C|GAGE-12D|GAGE-12E|g antigen 12C/D/E protein-coding 1603137 GAGE12D G antigen 12D 18179644 100132399 NM_001127199,AC142497 NP_001120671,A1L429 Hs.645554 GAGE-12B|GAGE12B|GAGE12C|GAGE12E G antigen 12B/C/D/E|G antigen 12C/D/E|GAGE-12C|GAGE-12D|GAGE-12E|g antigen 12C/D/E protein-coding 1606348 GAGE12E G antigen 12E 18179644,11329013 729431 NM_001098418,AC142497 NP_001091888,A1L429,ADR82812 Hs.632812 GAGE-12B|GAGE12B|GAGE12C|GAGE12D G antigen 12B/C/D/E|G antigen 12C/D/E|GAGE-12C|GAGE-12D|GAGE-12E|g antigen 12C/D/E protein-coding 1625320 GAGE12F G antigen 12F 18179644 100008586 NM_001098405,AC142497,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182,BC121183,BC144193 NP_001091875,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183,AAI21184,AAI44194,Q66I50 Hs.460641,Hs.632808,Hs.720924 GAGE12G|GAGE12I G antigen 12F/G/I|GAGE-12F|GAGE-12G|GAGE-12I|OTTHUMP00000025845 protein-coding 1606347 GAGE12G G antigen 12G 12477932 645073 NM_001098409,AC142497,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182,BC121183,BC144193 NP_001091879,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183,AAI21184,AAI44194,O76087,Q66I50 Hs.460641,Hs.632808,Hs.720924 GAGE12F|GAGE12I|GAGE7|MGC132611|RP11-959H17.6 AL4|CT4.7|G antigen 12G|GAGE-12F|GAGE-12G|GAGE-12I|GAGE-7|GAGE-7B|GAGE-8|OTTHUMP00000025846|cancer/testis antigen 4.7|g antigen 12F/G/I|g antigen 7 protein-coding 1606346 GAGE12H G antigen 12H 18179644,15772651 729442 NM_001098410,AC142497 NP_001091880,A6NDE8 Hs.632813 RP11-959H17.7 G antigen 12H|GAGE-12H|OTTHUMP00000025847 protein-coding 1344596 GAGE12I G antigen 12I This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq] 7544395,18179644,15772651,15489334,12477932,10397259,9651357 26748 NM_001477,AF055475,BX649339,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182,BC121183,BC144193 NP_001468,AAC33678,CAI95423,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183,AAI21184,AAI44194,O76087,Q66I50 Hs.720924,Hs.460641,Hs.632808 AL4|CT4.7|GAGE12F|GAGE12G|GAGE7|GAGE7B G antigen 7B|GAGE-12F|GAGE-12G|GAGE-12I|GAGE-7|GAGE-7B|GAGE-8|OTTHUMP00000070307|cancer/testis antigen 4.7|g antigen 12F/G/I|g antigen 7|g antigen 7b protein-coding 1606350 GAGE12J G antigen 12J 18179644,15772651,12477932 729396 NM_001098406,AF235097,AK310423 NP_001091876,A6NER3 Hs.695912,Hs.709908 GAGE11 G antigen 11|G antigen 12J|GAGE-12J protein-coding 1604406 GAGE13 G antigen 13 18179644,15772651,12477932,11329013 645051 NM_001098412,AF235097,BX649339 NP_001091882,CAI95426,Q4V321 Hs.695912 GAGE12A|MGC163246 G antigen 12A|G antigen 13|GAGE-12A|GAGE-13|OTTHUMP00000025836 protein-coding 1350714 GAGE2A G antigen 2A 15772651,15489334,12477932,11329013,7544395,19934278 729447 NM_001127212,AC142497,BC069309,BC069397,BC069558,EC558573 Q13066,Q6NT46,NP_001120684,AAH69309,AAH69397,AAH69558 Hs.460641,Hs.722100 CT4.2|GAGE-2A|GAGE-2B|GAGE-2C|GAGE2|GAGE2B|GAGE2C|MGC96883|MGC96930|MGC96942 G antigen 2A/2B|G antigen 2C|GAGE-2|OTTHUMP00000025841|cancer/testis antigen 4.2|cancer/testis antigen family 4, member 2 protein-coding 2292466 GAGE2B G antigen 2B 18669648,18179644,15772651,15489334,7544395 645037 NM_001098411,BX649339 NP_001091881,CAI95425,Q13066 Hs.714681 GAGE-2B|GAGE-2C|GAGE2A|GAGE2C CT4.2|G antigen 2A/2B|G antigen 2B|G antigen 2B/2C|G antigen 2C|GAGE-2|OTTHUMP00000070308|cancer/testis antigen 4.2|g antigen 2A/2B protein-coding 2293117 GAGE2C G antigen 2C This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq] 19934278,18179644,15772651,15489334,12477932,10397259,10037183,9651357,7544395 2574 NM_001472,BX649339,BC113926,U19143 NP_001463,CAI95424,AAI13927,AAA82745,Q13066 Hs.460641 CT4.2|GAGE-2B|GAGE-2C|GAGE2|GAGE2A|GAGE2B|MGC120097|MGC96883|MGC96930|MGC96942 G antigen 2|G antigen 2A/2B|G antigen 2B|G antigen 2B/2C|GAGE-2|OTTHUMP00000070309|cancer/testis antigen 4.2|g antigen 2A/2B protein-coding 2293111 GAGE2D G antigen 2D 18179644,12477932 729408 NM_001098407,BX649339,BC018052 NP_001091877,CAI95422,AAH18052 Hs.668804 GAGE8|MGC26395 G antigen 2D|OTTHUMP00000070310 protein-coding 2293811 GAGE2E G antigen 2E 18179644,16189514,15772651,15489334,12477932,10397259,9651357 26749 NM_001127200,BX649339,BC018052 NP_001120672,CAI95421,AAH18052,Q4V326 Hs.668804,Hs.695911 GAGE-2E|GAGE8 G antigen 2E protein-coding 1346373 GAGE3 G antigen 3 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq] 18179644,12522270,10397259,9651357,7544395 2575 U19144 AAA82746,Q13067 CT4.3 G antigen 3|GAGE-3|cancer/testis antigen 4.3|cancer/testis antigen family 4, member 3 protein-coding 1344954 GAGE4 G antigen 4 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq] 18179644,15489334,12477932,10397259,9651357,7544395 2576 NM_001474,BC171769,CR542236,U19145 NP_001465,AAI71769,CAG47032,AAA82747,Q13068 Hs.460641,Hs.668804,Hs.278606 CT4.4 G antigen 4|GAGE-4|cancer/testis antigen 4.4|cancer/testis antigen family 4, member 4 protein-coding 1354409 GAGE5 G antigen 5 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq] 18179644,16189514,15489334,12477932,10397259,9651357,7544395 2577 NM_001475,BC024914,U19146 NP_001466,AAH24914,AAA82748,Q13069,ABM82086,ABM85267 Hs.460641 CT4.5 G antigen 5|GAGE-5|cancer/testis antigen 4.5|cancer/testis antigen family 4, member 5 protein-coding 1352149 GAGE6 G antigen 6 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq] 18179644,10397259,9651357,7544395 2578 NM_001476,U19147 NP_001467,AAA82749,Q13070,AAI48436 Hs.632808 CT4.6 G antigen 6|GAGE-6|cancer/testis antigen 4.6|cancer/testis antigen family 4, member 6 protein-coding 1347743 GAGE7 G antigen 7 18179644,15772651,15489334,12477932,12432251,10397259,10037183,9651357,19642896 2579 NM_021123,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182,BC121183,BC144193 NP_066946,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183,AAI21184,AAI44194,O76087 Hs.460641,Hs.632808,Hs.720924 CT4.7|GAGE-7|GAGE12I AL4|G antigen 7|GAGE-12I|GAGE-7B|GAGE-8|cancer/testis antigen 4.7|cancer/testis antigen family 4, member 7 protein-coding 1349095 GAGE8 G antigen 8 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq] 1580863 16189514,10397259,18179644,15772651,15489334,12477932,9651357 100101629 NM_012196,AF055473,BC143620 AAI56223,AAI56972,NP_036328,AAC33676,AAI43621,Q9UEU5 Hs.668804 CT4.8|GAGE2D|MGC190052|MGC190826|MGC26395 G antigen 2D|G antigen 8|GAGE-8|OTTHUMP00000070310|cancer/testis antigen 4.8|cancer/testis antigen family 4, member 8 protein-coding 1343751 GAGEC2 G antigen, family C, 2 9724777 9505 731643 GAK cyclin G associated kinase In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. [provided by RefSeq] 1580863,1300048 14968112,19371378,19654208,18029348,21044948,21058943,20237935,9299234,18985386,17538018,16895969,16344560,16189514,16161052,15752756,15489334,15240878,14702039,12732633,12477932,12010461,11148137,10887964,10625686,9013862,16169070,20711177 2580 AC019103,AC139887,CH471131,AB208854,AK097714,AK126735,AK127351,AK131464,AK299554,AK309413,BC000816,NM_005255,BC001290,BC008668,BC063606,BC085005,BC107076,BT007015,CR596345,CR613787,CR619409,D88435,DA680073 NP_005246,EAW82644,EAW82645,EAW82646,BAD92091,BAG53518,BAC86662,BAD18609,BAG61499,AAH00816,AAH08668,AAH63606,AAH85005,AAI07077,AAP35661,BAA22623,O14976,Q3B835,Q59HA5,Q5U4P5,Q6P490,Q6ZMW6,Q6ZTD0,Q86U72 Hs.369607 FLJ16629|FLJ40395|MGC99654 OTTHUMP00000217314|cyclin-G-associated kinase protein-coding 737194 GAL galanin prepropeptide Galanin is small neuropeptide that functions as a cellular messenger within the central and peripheral nervous systems, modulating diverse physiologic functions (Mechenthaler, 2008 [PubMed 18500643]).[supplied by OMIM] 1580863,2313738,2313740,2313742,2313736,1624341,704404,1624334,1624331,1624333,1624339,1625748 1722333,1370155,19086053,18988886,18973137,18518925,18500643,18322398,18272487,18196269,17573119,17083333,16787232,16341674,16314872,15944034,15930442,15927790,15893372,15735230,15648541,15283968,15111018,14997482,14706552,14700749,12814355,12769595,12654333,12647269,12477932,12471460,12106297,11712539,11595426,11279301,9928160,9808667,9685625,8617199,7524088,7508413,2485092,2469045,2465504,2460590,2447134,2446889,2444569,2427385,2423990,1719117,1711463,1710578,1702449,1701228,1698834,21042317,19749437,19913121,20602615,20628086,19874574,20237460,20468064,18577758 2313738,2313740,2313742,2313736,1624341,1624334,1624331,1624333,1624339,1625748 51083 NM_015973,A28025,AP003096,CH471076,L11144,AF077047,BC030241,BM846531,M77140 NP_057057,CAA01907,EAW74715,EAW74716,EAW74717,AAA18248,AAD27780,AAH30241,AAA60178,P22466,Q9Y2S1 Hs.278959 GALN|GLNN|GMAP|MGC40167 galanin|galanin-message-associated peptide|galanin-related peptide 1643371 BW329_H protein-coding 1350287 GAL3ST1 galactose-3-O-sulfotransferase 1 Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. The product of this gene is galactosylceramide sulfotransferase which catalyzes the conversion between 3'-phosphoadenylylsulfate + a galactosylceramide to adenosine 3',5'-bisphosphate + galactosylceramide sulfate. Activity of this sulfotransferase is enhanced in renal cell carcinoma. [provided by RefSeq] 1580863 9030544,15489334,15461802,12477932,12175333,10785389,9847074,8830034,6955451,6280086,5562350,4710574,2562955,911873,19587831 9514 NM_004861,AB029901,AC005006,CH471095,AK313097,BC014649,BC019077,CR456350,CR595763,D88667 NP_004852,BAA89503,EAW59899,EAW59900,EAW59901,EAW59902,EAW59903,BAG35921,AAH14649,AAH19077,CAG30236,BAA13673,Q99999,CAK54491,CAK54790,ABM83198,ABM86399 Hs.17958 CST 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase|3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase|GalCer sulfotransferase|OTTHUMP00000199361|OTTHUMP00000199362|OTTHUMP00000199363|OTTHUMP00000199364|OTTHUMP00000199365|OTTHUMP00000199366|OTTHUMP00000199367|OTTHUMP00000199368|OTTHUMP00000199369|OTTHUMP00000199370|OTTHUMP00000199371|OTTHUMP00000199372|OTTHUMP00000199373|OTTHUMP00000199374|OTTHUMP00000199375|OTTHUMP00000199401|OTTHUMP00000199402|OTTHUMP00000199403|OTTHUMP00000199404|OTTHUMP00000199405|OTTHUMP00000199406|cerebroside (3'-phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase|cerebroside sulfotransferase|galactosylceramide sulfotransferase protein-coding 1346582 GAL3ST2 galactose-3-O-sulfotransferase 2 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq] 1580863 11029462,15926885,15921657,15489334,14701868,12477932,12036446,11926988,11504739,11333265,11323440,11181995 64090 NM_022134,AC114730,CH471063,AB040610,BC117293,BC117295 NP_071417,AAX82021,EAW71293,BAB16844,AAI17294,AAI17296,Q9H3Q3 Hs.632556 GAL3ST-2|GP3ST beta-galactose-3-O-sulfotransferase 2|gal 3-O-sulphotransferase|gal-beta-1, 3-GalNAc 3'-sulfotransferase 2|galactose-3-O-sulfotransferase 2|galbeta1-3GalNAc 3'-sulfotransferase 2|glycoprotein beta-Gal 3'-sulfotransferase 2 protein-coding 1343263 GAL3ST3 galactose-3-O-sulfotransferase 3 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. 1580863 11323440,11356829,15489334,14701868,12477932,11333265,10815989,8889548 89792 NM_033036,AP006287,CH471076,AB053232,AY026481,BC113552,BC113554,BM673570 NP_149025,EAW74490,BAB61900,AAK01945,AAI13553,AAI13555,Q96A11 Hs.208343 GAL3ST-3|GAL3ST2|MGC142112|MGC142114 beta-galactose-3-O-sulfotransferase 3|gal-beta-1, 3-GalNAc 3'-sulfotransferase 3|galactose 3'-sulfotransferase|galactose-3-O-sulfotransferase 3|galbeta1-3GalNAc 3'-sulfotransferase 3 protein-coding 1351990 GAL3ST4 galactose-3-O-sulfotransferase 4 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq] 737633 11333265,15498874,15489334,14702039,14701868,12690205,12477932,9373149,8125298,16169070 737633 79690 NM_024637,AC073842,CH236956,CH471091,AF289575,AF316113,AK022178,AK092367,AK225890,AK301591,AL833824,BC012976,BM889458,CR605645 NP_078913,EAL23847,EAW76575,EAW76577,EAW76579,AAL55759,AAK73365,BAB13977,BAG52541,BAG63080,CAD38686,AAH12976,Q96RP7 Hs.44856 FLJ12116|GAL3ST-4 OTTHUMP00000206900|beta-galactose-3-O-sulfotransferase 4|beta-galactose-3-O-sulfotransferase, 4|gal-beta-1,3-GalNAc 3'-sulfotransferase|galactose-3-O-sulfotransferase 4|galbeta1-3GalNAc 3'-sulfotransferase protein-coding 1347926 GALC galactosylceramidase This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 20800603,20877624,7601472,17579360,17458901,16607461,16344560,15657896,15489334,12477932,11814461,10833326,10477434,10234611,9434153,9338580,9272171,8940268,8889548,8786069,8595408,8399327,8297359,8281145,8162701,7581365,7417782,6811701,3278379,20410102,21102463 2581 NM_001201402,BQ015788,DA323070,DB366392,DC334180,NM_001201401,NM_000153,NM_001037525,NG_011853,AL136501,AL157955,CH471061,D86181,L38559,AI025909,AK294040,AK296530,AK302519,AK302683,AK302956,BC036518,BE501000,BU675449,CK299420,D25283,D25284,DA247447,DA332567,H80485,L23116 NP_001188330,NP_001188331,NP_000144,NP_001032614,EAW81359,EAW81360,EAW81361,EAW81362,BAA24902,AAA80975,BAG57392,BAG59160,BAG63793,BAH13778,BAG64110,AAH36518,BAA04971,BAA04972,AAA16645,P54803,ABM82158,ABM85342 Hs.513439 GALCERase|OTTHUMP00000027906|galactocerebrosidase|galactocerebroside beta-galactosidase|galactosylceramide beta-galactosidase|galactosylceraminidase protein-coding 733015 GALE UDP-galactose-4-epimerase This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq] 704404 11279032,15175331,16302980,18029348,19250319,19027726,18188677,16710414,16611573,16385452,16344560,16301867,15701638,15639193,15489334,14702039,12477932,11279193,10801319,9973283,9700591,9538513,9326324,8593531,8295413,7305435,6408303,477411,16189514 2582 NM_000403,NG_007068,NM_001127621,AF022382,AL031295,CH471134,DQ233667,AK057302,AK096127,AK307354,AK314397,AL530475,BC001273,BC050685,BC056880,BI835132,BQ437612,CR592211,CR592671,CR596991,CR601378,CR602422,CR611350,CR616462,CR616589,CR620370,DA043957,DQ233668,L41668,NM_001008216,HH806482 NP_001008217,NP_000394,NP_001121093,AAC39645,CAB40159,CAI23149,CAI23154,CAI23155,CAI23156,CAI23157,EAW95083,EAW95084,EAW95085,EAW95086,EAW95087,EAW95088,EAW95089,EAW95090,EAW95091,EAW95092,EAW95093,ABB04109,BAG51901,BAG37021,AAH01273,AAH50685,ABB04110,AAB86498,Q14376,Q38G75,Q5QPP1,Q5QPP2,Q5QPP3,Q5QPP4,ABM82679,ABM85860,CBX87741 Hs.632380 FLJ95174|FLJ97302|SDR1E1 OTTHUMP00000002994|OTTHUMP00000037931|UDP galactose-4'-epimerase|UDP-galactose 4-epimerase|UDP-glucose 4-epimerase|galactose-4-epimerase, UDP-|galactowaldenase|short chain dehydrogenase/reductase family 1E, member 1 protein-coding 1313365 GALK1 galactokinase 1 Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq] 1300192,1580863 19913121,20628086,12694189,7542884,14596685,15024738,18029348,8908517,19309526,17517531,15590630,15526155,15489334,15003454,12942049,12477932,11978884,11978883,11231902,11139256,10790206,10570908,10521295,7670469,6263522,19615732,20405025 1300192 2584 NM_000154,NG_008079,AC087749,AF084935,CH471099,L76927,AK130064,AK303748,AK303832,AK310203,AK314890,AK316181,BC001166,BT007005,U26401 NP_000145,AAC35849,EAW89316,AAB51607,BAC85288,BAG64720,BAG64778,BAG37404,BAH14552,AAH01166,AAP35651,AAA96147,P51570,Q6ZP37,Q71UH7,ABW03633 Hs.407966 GALK|GK1 galactokinase|galactose kinase protein-coding 1318611 GALK2 galactokinase 2 This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7542884,16006554,15489334,14702039,12477932,8798585,8702831,1438294,19874134 2585 NM_002044,AC013452,AC022306,AC036102,CH471082,AF461816,AK098049,AK301361,AL832745,BC005141,BI766538,BT006901,BX096260,BX455251,CA841825,CR616460,NM_001001556,CR616580,CR621182,M84443,AK316440 NP_001001556,NP_002035,EAW77367,AAP97708,BAG53570,BAG62905,AAH05141,AAP35547,AAA58612,Q01415,Q7Z4Q4,ABM92200,ABM84668,BAH14811 Hs.122006,Hs.712959 GK2|MGC1745 N-acetylgalactosamine kinase|galNAc kinase protein-coding 1350990 GALM galactose mutarotase (aldose 1-epimerase) This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose. 1580863 18052213,16344560,15489334,15026423,12923184,12753898,12477932,5661008,4963341 130589 BC019263,DA984992,U11036,NM_138801,AC074366,AY064382,AY064385,CH471053,AK291489,BC014916 AAH19263,AAA67652,Q12915,Q53RY1,Q96C23,NP_620156,AAX93101,AAL62475,AAL62476,EAX00367,BAF84178,AAH14916 Hs.435012 BLOCK25|IBD1 aldose 1-epimerase|galactomutarotase protein-coding 1343157 GALNS galactosamine (N-acetyl)-6-sulfate sulfatase This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq] 1580863 15962010,19373925,19394256,20379614,8325655,18710657,18285341,17876718,17544310,16378744,16344560,16287098,15489334,15241807,14702039,12721840,12477932,12442278,11524742,10814710,9660054,9521421,9375852,9298823,8910459,8889548,8826435,8651279,8434612,8020961,8001980,7795586,7668283,7633425,7581409,7575473,6224421,4218100,1953646,1794986,20574428,1755850,1522213 2588 NM_000512,NG_008667,AC092384,CH471184,D17629,U06088,AK021488,AK124834,AK131096,AK294390,AK308269,AK310392,AK312655,AY129021,BC007825,BC018027,BC050684,BC056151,BC109229,BX649181,CK301132,CR592952,CR620126,DA010361 Q9HAL1,NP_000503,EAW66757,EAW66758,EAW66759,BAA04535,AAC51350,BAB13833,BAC85146,BAH11753,BAG35538,AAM98764,AAH07825,AAH50684,AAH56151,CAE46199,P34059,Q6MZF5,Q6YL38,Q6ZNJ9,Q96I49 Hs.271383 FLJ17434|FLJ42844|FLJ98217|GALNAC6S|GAS|MPS4A N-acetylgalactosamine-6-sulfatase|N-acetylgalactosamine-6-sulfate sulfatase|chondroitinase|chondroitinsulfatase|galNAc6S sulfatase|galactose-6-sulfate sulfatase protein-coding 736264 GALNT1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq] 1580863 7592619,9295285,12506059,19487295,18987618,18268124,17916404,16344560,16341674,15851553,15489334,14636048,12925576,12477932,12364335,12199709,9847074,9592121,9394011,9312074,9050910,8889548,8727794,8690719,8663203,2681181,16712791,20498016,19460755,19524017,20142253 2589 BC047746,BM668856,BM838102,CB164572,CK431238,CR601859,DA991281,DN996147,U41514,X85018,NM_020474,AC090220,AC090229,AP001394,CH471088,S82597,Y10343,AJ505952,AK293062,BC038440 AAH47746,AAC50327,CAA59380,Q05BM8,Q10472,Q68VJ7,NP_065207,EAX01359,EAX01360,AAD14406,CAD44535,BAF85751,AAH38440 Hs.514806 GALNAC-T1 GalNAc transferase 1|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1|polypeptide GalNAc transferase 1|polypeptide N-acetylgalactosaminyltransferase 1|pp-GaNTase 1|protein-UDP acetylgalactosaminyltransferase 1 protein-coding 1348778 GALNT10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) This gene belongs to the polypeptide N-acetylgalactosaminyltransferase (pp-GalNAc-T) gene family. Polypeptide GalNAc transferases initiate the synthesis of mucin-type oligosaccharides by transferring GalNAc from UDP-GalNAc to the hydroxyl group of either a serine or threonine residue on the polypeptide acceptor. Following expression in insect cells, recombinant GalNAc transferase 10 showed significant GalNAcT activity toward mucin-derived peptides, and it utilized both nonglycosylated and glycosylated peptide substrates. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 18562306,15489334,14702039,12477932,12417297,19460755,20379614 55568 AC008625,AC008672,AC008675,AC010295,CH471062,AB078145,AF086521,AJ505950,AK023782,NM_198321,AK023815,AK024931,AK074132,AK127135,AL096739,BC007224,BC050333,BC072450,BC098444,BE875528,BG743249,BU661066,BQ549377 NP_938080,EAW61639,EAW61640,EAW61641,EAW61642,EAW61643,EAW61644,BAC56890,CAD44532,BAB14676,BAB84958,BAG54441,CAB46378,AAH07224,AAH72450,AAH98444,Q4G0E1,Q86SR1,AAI48616,AAI53182 Hs.726056 DKFZp586H0623|FLJ00205|FLJ11715|GALNACT10|GalNAcT10|PPGALNACT10|PPGANTASE10|pp-GalNAc-T10 GalNAc transferase 10|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10|polypeptide N-acetylgalactosaminyltransferase 10 protein-coding 1346736 GALNT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 1580863 16344560,15489334,15146197,14702039,12853948,12690205,12477932,11925450,9847074,20422447,20547088 63917 NM_022087,AACC02000108,AC006017,CH471173,AK025287,AK026056,AK124934,AK128545,AK296097,AK298911,BC059377,CN309655,DA308896,DA748534,Y12434 NP_071370,EAL24518,AAD45821,EAW53975,EAW53976,BAB15105,BAB15338,BAG54116,BAH12255,BAH12901,AAH59377,CAC79625,Q8NCW6,AAI67834 Hs.647109 FLJ21634|MGC71630 GALNAC-T11|OTTHUMP00000211839|OTTHUMP00000211841|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11|polypeptide GalNAc transferase 11|polypeptide N-acetylgalactosaminyltransferase 11|pp-GaNTase 11|protein-UDP acetylgalactosaminyltransferase 11 protein-coding 1323692 GALNT12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) GALNT12 is a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (EC 2.4.1.41), which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a hydroxyl amino acid on a polypeptide acceptor in the initial step of mucin-type O-linked protein glycosylation (Guo et al., 2002 [PubMed 12135769]).[supplied by OMIM] 1580863 15557789,15489334,15164053,14702039,12477932,12135769,19617566 79695 NM_024642,AL136084,CH471105,CQ816242,AB040673,AB078146,AJ132365,AJ505963,AK024865,BC013945 NP_078918,CAI17042,EAW58897,CAG32962,BAD93346,BAC07181,CAC80100,CAD44541,BAB15027,AAH13945,Q58A70,Q68VJ1,Q8IXK2,AAI48410,AAI48740 Hs.47099 CRCS1|FLJ21212|GalNAc-T12 UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12|colorectal cancer, susceptibility to 1|polypeptide GalNAc transferase 12|polypeptide N-acetylgalactosaminyltransferase 12|pp-GaNTase 12|protein-UDP acetylgalactosaminyltransferase 12 protein-coding 1343318 GALNT13 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM] 1302747,1580863 18649358,17903295,15815621,15231747,15146197,14702039,12477932,12407114,11572484,11329013,9847074,20379614 1302747 114805 AC008166,AC009227,AC009297,AC092584,AC092589,AC133107,CH471058,CQ816246,AB067505,AB078142,AJ505991,AK123152,AK131195,AK308675,BC101031,BC101032,BC101033,BC101034,NM_052917,CN267103,R38990,BG221433 NP_443149,AAF19246,EAX11464,EAX11465,CAG32964,BAB67811,BAC54545,CAD44533,BAC85542,BAG54747,AAI01032,AAI01033,AAI01034,AAI01035,Q08ER7,Q68VI8,Q8IUC8 Hs.470277 FLJ16031|FLJ41157|GalNAc-T13|H_NH0187G20.1|KIAA1918|MGC119459|MGC119461|WUGSC:H_NH0187G20.1 GalNAc transferase 13|OTTHUMP00000204478|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13|polypeptide GalNAc transferase 13|polypeptide N-acetylgalactosaminyltransferase 13|pp-GaNTase 13|protein-UDP acetylgalactosaminyltransferase 13 protein-coding 1320757 GALNT14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) GALNT14 (EC 2.4.1.41) belongs to a large subfamily of glycosyltransferases residing in the Golgi apparatus. GALNT enzymes catalyze the first step in the O-glycosylation of mammalian proteins by transferring N-acetyl-D-galactosamine (GalNAc) to peptide substrates.[supplied by OMIM] 17434446,15489334,14702039,12975309,12507512,12477932,9373149,8125298,20800603,20356418,19805900,20179215,20379614 79623 AC009301,AC009305,AC015980,CH471053,AB078144,AJ505966,AK022753,AK074394,AK091313,AK122747,NM_024572,AK225808,AK298735,AK309417,AY358758,BC006269,BC010659,Y09324,HH961860 NP_078848,AAX88899,AAX93209,AAY24301,EAX00486,EAX00487,EAX00488,EAX00489,BAC56889,CAD44543,BAB14227,BAC03634,BAG53701,BAH12861,AAQ89118,AAH06269,AAH10659,CAA70505,Q68VI9,Q96FL9,CBX51403 Hs.468058 FLJ12691|FLJ13977|GALNT15|GalNac-T10|GalNac-T14 OTTHUMP00000082714|OTTHUMP00000201067|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T14|polypeptide GalNAc transferase 14|polypeptide N-acetylgalactosaminyltransferase 14|polypeptide N-acetylgalactosaminyltransferase 15|pp-GaNTase 14|protein-UDP acetylgalactosaminyltransferase 14 protein-coding 1321743 GALNT2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) This gene encodes polypeptide N-acetylgalactosaminyltransferase 2, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation in a cell is regulated by a repertoire of GalNAc-transferases. [provided by RefSeq] 1580863 19913121,20570916,20571754,20628086,20679960,20686565,18029348,19460755,19487539,19656773,20158509,20160193,20167577,20379614,20430392,12438318,9295285,9852147,12506059,19148283,19060906,18987386,18596051,18193044,18193043,16710414,15489334,14702039,12925576,12754287,12477932,9592121,9442070,9394011,9312074,8889549,8663203,20864672,7592619 2590 FJ515852,NM_004481,NG_011854,AL078646,AL117349,AL136988,CH471098,Y10344,AK025845,AK056187,AK098468,AK290048,AK296886,AK300453,AK304029,BC041120,BC050583,CR590658,CR608732,CR626377,N53765,X85019 ACS13744,NP_004472,CAC00585,CAI22902,CAI23447,EAW69908,EAW69909,EAW69910,EAW69911,BAF82737,BAH12448,BAH13288,BAH14094,AAH41120,CAA59381,Q10471 Hs.725974 GalNAc-T2 UDP-GalNAc transferase 2|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2|polypeptide GalNAc transferase 2|polypeptide N-acetylgalactosaminyltransferase 2|pp-GaNTase 2|protein-UDP acetylgalactosaminyltransferase 2 protein-coding 1315063 GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq] 1580863 18029348,19830424,9592121,9295285,8663203,12506059,19411468,18976705,18618993,17853462,17361208,17351710,16940445,16638743,16344560,15860931,15489334,15133511,15041730,14735190,14555840,12708471,12477932,12232759,9884405,9394011,20358599 2591 NM_004482,NG_012069,AC009495,CH471058,Y10345,AJ505954,AK307391,AK313389,BC056246,BC113565,BC113567,BU567493,BX094158,BX647473,DB098143,DB727693,X92689 NP_004473,AAY14678,EAX11323,EAX11324,CAD44536,BAG36187,AAH56246,AAI13566,AAI13568,CAA63371,Q14435,Q68VJ6,ADR83086 Hs.170986 DKFZp686C10199|GalNAc-T3|HFTC|HHS|MGC61909 GalNAc transferase 3|OTTHUMP00000204915|OTTHUMP00000204919|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3|polypeptide GalNAc transferase 3|polypeptide GalNAc-transferase T3|polypeptide N-acetylgalactosaminyltransferase 3|pp-GaNTase 3|protein-UDP acetylgalactosaminyltransferase 3 protein-coding 1345094 GALNT4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. [provided by RefSeq] 9804815,9592121,12506059,18259693,15489334,12477932,10984485,10737800,12754287,12473113,16344560,17215257,18826381,19294005 8693 NM_003774,AC010201,AC025034,CH471054,Y08564,AK026150,AK026438,AW835269,BC036390,AK312870,CR739813,DA109687 NP_003765,EAW97428,CAA69875,AAH36390,Q8N4A0,ABM82610,ABM85795,ABM87830,ABW03407,BAG35722 Hs.713979 FLJ93314|GALNAC-T4|GALNACT4|GalNAcT4 GalNAc transferase 4|UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 4|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4|polypeptide GalNAc transferase 4|polypeptide N-acetylgalactosaminyltransferase 4|pp-GaNTase 4|protein-UDP acetylgalactosaminyltransferase 4 protein-coding 737016 GALNT5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 1580863 12477932,10545594 11227 NM_014568,AC016732,CH471058,AF154107,AJ245539,AJ505956,AK292154,AY277591,BC142676,BC142703,BC144211 NP_055383,EAX11449,AAF15313,CAB65104,CAD44537,BAF84843,AAP34404,AAI42677,AAI42704,Q68VJ5,Q7Z7M9 Hs.269027 GALNAC-T5|MGC165041 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5|polypeptide GalNAc transferase 5|polypeptide N-acetylgalactosaminyltransferase 5|pp-GaNTase 5|protein-UDP acetylgalactosaminyltransferase 5 protein-coding 1321517 GALNT6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq] 1580863 10464263,12506059,19287074,18854599,16344560,16303743,15489334,14702039,12477932,9373149,8125298,20379614 11226 NM_007210,AC046135,CH471111,AK025961,AK074658,AK092496,AK296852,BC035822,BC114505,BC114949,DB001644,Y08565,AB265820,CS501500 NP_009141,EAW58190,BAB15297,BAC11118,BAG52560,BAG59418,AAH35822,AAI14506,CAA69876,Q24JS2,Q8NCL4,ABM82150,ABM85333,BAJ10977,CAM83953 Hs.505575 GALNAC-T6|GalNAcT6 GalNAc transferase 6|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6|UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 6|polypeptide GalNAc transferase 6|polypeptide N-acetylgalactosaminyltransferase 6|pp-GaNTase 6|protein-UDP acetylgalactosaminyltransferase 6 protein-coding 1347952 GALNT7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq] 10544240,16344560,16303743,15489334,14702039,12477932,9847074,19844573 51809 NM_017423,AC097534,AC098596,AC105285,CH471056,CS051319,AJ002744,AJ505958,AK128437,AK295509,BC020541,BC035303,BC046129,BC047468,DB238519 Q4W5F7,Q68VJ4,Q86SF2,NP_059119,AAY41020,EAX04761,CAI72154,CAB60270,CAD44538,BAG58426,AAH35303,AAH46129,AAH47468 Hs.548088 GALNAC-T7|GalNAcT7 N-acetylgalactosaminyltransferase 7|OTTHUMP00000219051|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7|polypeptide GalNAc transferase 7|polypeptide N-acetylgalactosaminyltransferase 7|pp-GaNTase 7|protein-UDP acetylgalactosaminyltransferase 7 protein-coding 1350587 GALNT8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq] 1580863 10767557,12438318,12477932,20800603 26290 NM_017417,AC005833,CH471116,AJ271385,AJ505959,BC140888,BC140889 NP_059113,EAW88835,CAB89199,CAD44539,AAI40889,AAI40890,Q68VJ3,Q9NY28 Hs.511985 GALNAC-T8 GalNAc transferase 8|UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8|polypeptide GalNAc transferase 8|polypeptide N-acetylgalactosaminyltransferase 8|pp-GaNTase 8|probable polypeptide N-acetylgalactosaminyltransferase 8|protein-UDP acetylgalactosaminyltransferase 8 protein-coding 69656 GALNT9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10978536,16344560,14702039,12477932,12407114,8889548,16712791 50614 NM_001122636,NM_021808,AC138466,AC148477,AB040672,AF458594,AJ505960,AK054820,AK055773,BC069354,BC093817,BC093819,BC157845,BC171844,BI760629,BM672467,BM925654,CB154648,DA206384,DA370980,DR001000,AC233270 NP_001116108,NP_068580,BAB13699,AAM49722,CAD44540,BAG51429,BAG51570,AAH93817,AAH93819,AAI57846,AAI71844,Q68VJ2,Q9HCQ5,ADR82874 Hs.301062,Hs.658249 GALNAC-T9 GalNAc transferase 9|UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 9|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9|polypeptide GalNAc transferase 9|polypeptide N-acetylgalactosaminyltransferase 9|pp-GaNTase 9|protein-UDP acetylgalactosaminyltransferase 9 protein-coding 1320965 GALNTL1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 1580863 15489334,14702039,12477932,10574461,16344560,20379614 57452 AL157996,AL359317,CH471061,CQ816250,AB032956,AB078143,AJ505951,AK091426,AK289745,AK299588,AK315848,BC036812,BC098578,BC122545,NM_020692,BG059801,DA493083,NM_001168368 NP_065743,EAW80986,EAW80987,EAW80988,CAG32966,BAA86444,BAD93178,CAD44534,BAF82434,BAG61521,BAF98739,AAH36812,AAH98578,AAI22546,Q58A55,Q68VJ8,Q8N428,NP_001161840 Hs.21035 GALNACT16|GALNT16|KIAA1130|MGC141855 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1|galNAc-T-like protein 1|polypeptide GalNAc transferase-like protein 1|polypeptide N-acetylgalactosaminyltransferase 16|pp-GaNTase-like protein 1|protein-UDP acetylgalactosaminyltransferase-like protein 1|putative polypeptide N-acetylgalactosaminyltransferase-like protein 1 protein-coding 1312992 GALNTL2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 15489336,15147861,14702039,12975309,11597177,11230166,12477932,11076863,20800603,11256614,16381901 117248 NM_054110,AC087858,AC090953,CH471055,CQ816244,CS300693,AB078149,AF361251,AJ505964,AK094780,AK312425,AL831925,AL832575,AL832736,AY035399,AY358443,BC014789,BC030625 NP_473451,EAW64266,EAW64267,CAG32963,CAK32357,BAD29961,AAK48940,CAD44542,BAG52928,BAG35335,CAD38585,CAD89983,AAK63127,AAQ88808,AAH14789,AAH30625,Q4G146,Q68VJ0,Q8N3T1,CAL37699,CAL38199,ABM81979,ABM85158 Hs.411308 DKFZp686H1113|GALNT13|GALNT15|GALNT7|PIH5 OTTHUMP00000211022|UDP-GalNAc transferase T15|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7|galNAc-T-like protein 2|polypeptide GalNAc transferase-like protein 2|polypeptide N-acetylgalactosaminyltransferase 13|polypeptide N-acetylgalactosaminyltransferase-like protein 2|pp-GaNTase-like protein 2|pregnancy-induced hypertension syndrome-related protein 5|protein-UDP acetylgalactosaminyltransferase-like protein 2 protein-coding 1347297 GALNTL4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 737633 20080650,20379614,19240061,15489334,14702039,12477932,9110174,8619474 737633 374378 NM_198516,AC023946,AC084243,AC104031,AC131935,CH471064,AB078147,AF131852,AJ626724,AK055111,BC037341,BC060864 NP_940918,EAW68545,BAD93179,AAD20062,CAF25035,BAG51470,AAH37341,AAH60864,Q58A54,Q6P9A2 Hs.655152 GALNT15|GALNT18|GalNAc-T15|MGC71806 GalNAc-transferase 18|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15|galNAc-T-like protein 4|polypeptide GalNAc transferase-like protein 4|pp-GaNTase-like protein 4|protein-UDP acetylgalactosaminyltransferase-like protein 4|putative polypeptide N-acetylgalactosaminyltransferase-like protein 4 protein-coding 1351459 GALNTL5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 18029348,15489334,14702039,12853948,12690205,12477932,9847074,16344560 168391 NM_145292,AACC02000108,AC006017,AC074257,AC099345,CH471173,AF440400,AF440404,AK093091,AK315667,BC022021,BC025391,AW103179,DB022678,NR_033169 ABM81715,ABM84871,NP_660335,EAL24517,AAD45823,AAS07457,AAS07428,EAW53977,EAW53978,EAW53979,EAW53980,EAW53981,AAM20912,AAP97318,AAH22021,Q7Z4T8 Hs.647077 GALNT15 OTTHUMP00000211942|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15|galNAc-T15|polypeptide GalNAc transferase 15|pp-GaNTase 15|protein-UDP acetylgalactosaminyltransferase 15|putative polypeptide N-acetylgalactosaminyltransferase-like protein 5 protein-coding 2301498 GALNTL6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 18519826,12477932,14702039,20379614,20977886 442117 NM_001034845,AC024706,AC025561,AC095045,AC095063,AC097496,AC108064,AC025821,AC093803,AC110081,AC110776,AC131952,CH471056,AJ626725,AK295464,BC044793,BC047551,BX108658,CR614651,AK124240,BC063015,GU220060 NP_001030017,EAX04762,CAF25036,BAG58396,AAH47551,Q49A17,ADP69004 Hs.386236 GALNT17|MGC44629 GaNTase 17|GalNAc transferase 17|OTTHUMP00000219021|OTTHUMP00000219023|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20|galNAc-T17|polypeptide GalNAc transferase 17|polypeptide N-acetylgalactosaminyltransferase-like 6|pp-GaNTase 17|protein-UDP acetylgalactosaminyltransferase 17|putative polypeptide N-acetylgalactosaminyltransferase 17 protein-coding 1604259 GALP galanin-like peptide This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, may have vasoactive properties and serve as a marker for neuroblastic tumors. 2313737,2313739 20574532,18830724,17604107,17535903,16954604,16787232,12007540,11861493,10601261 2313737,2313739 85569 NM_033106,NM_001145546,AC024580,CH471135,AF188492,AF188493,AY329637 NP_149097,NP_001139018,EAW72431,AAF19724,AAF19725,AAQ99038,Q9UBC7,AAI41469,AAI48723 Hs.283915 alarin|gal-like peptide|galanin-like peptide protein-coding 735654 GALR1 galanin receptor 1 The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq] 1625748,1580863 19913121,20628086,20171159,20201926,20398908,20468064,7524088,8670213,19086053,19047085,18973137,18385373,17982695,17083333,15930442,15767248,12477932,9808667,9425310,9367674,9168941,8825658,8617199,7534460,18577758,2834384 1625748 2587 NM_001480,NG_009223,AC100863,CH471117,U90658,U90660,AY541036,BC095530,L34339,U23854,U53511 NP_001471,EAW66603,AAC95397,AAS47032,AAH95530,AAA50767,AAB60356,AAC51936,P47211 Hs.272191 GALNR|GALNR1 GAL1-R|GALR-1|galanin receptor type 1 protein-coding 733781 GALR2 galanin receptor 2 Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq] 1580863 2834384,18577758,9480833,9685625,9832121,19086053,18272487,17083333,15489334,14592962,12477932,11867941,9880084 8811 NM_003857,AC018665,AF042782,AF058762,CH471099,AF040630,AF080586,BC069130,BC074914,BC074915,BC109051,BC109052,EF577401 NP_003848,AAC36587,AAC18118,EAW89364,AAC39634,AAD08671,AAH69130,AAH74914,AAH74915,AAI09052,AAI09053,ABQ52421,O43603 Hs.666366 GALNR2|MGC125983|MGC125984 GAL2-R|GALR-2|galanin receptor type 2 2289580,2289581,2289583 BW461_H,BW460_H,BW462_H protein-coding 735333 GALR3 galanin receptor 3 The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq] 728648,1580863 9722565,9832121,19086053,17083333,11867941,10591208,10441207,9928159,20398908,18577758,2834384,20677014 728648 8484 NM_003614,AB065934,AF129514,CH471095,Z97630,AF067733,AF073799,AY587582 NP_003605,BAC06149,AAD47348,EAW60191,CAB42831,AAC18860,AAC35944,AAS98215,O60755,AAI72236 Hs.158353 GAL3-R|GALR-3|galanin receptor type 3|galanin receptor, family member 3 2314778 GLUCO97_H protein-coding 1315126 GALT galactose-1-phosphate uridylyltransferase Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. [provided by RefSeq] 1580863 19646668,20008339,20237496,20547145,18210213,15749517,1897530,1427861,19224951,18454942,17207965,20734064,20800603,21059483,18089596,18029348,17876724,17486650,17303100,17143577,17041746,16595241,16507021,16416427,16274605,16189514,16125333,16009197,15841485,9012409,8956044,8943248,8892021,8869397,8741038,8598637,8551426,8499924,8198125,8112740,7957929,7887417,7887416,7671959,7550229,6095663,4759900,2840550,2233247,2011574,1610789,1373122,1301925,15506833,15489334,15308134,14707519,14702039,14614623,12869412,12851678,12606594,12521227,12477932,12370157,12119013,11936817,11919338,11704127,11678552,11511927,11479743,11181995,10884393,10439960,10424825,10408771,10220154,9632650,9222760,20151200 2592 NG_009029,AK300070,AL162231,CH471071,L46359,L46360,L46361,L46362,L46363,L46364,L46365,L46691,L46692,L46693,L46694,L46698,L46699,L46703,L46704,L46705,NM_000155,L46706,L46707,L46708,L46709,L46710,L46711,L46712,L46713,L46714,L46715,L46716,L46717,L46718,L46723,L48713,L48714,L48715,L48717,L48718,L48719,L48720,L48721,L48929,L48930,M96264,AK096026,AK096137,AK293212,AK310049,AK314340,BC015045,BI910081,BT009852,CR601917,CR606256,CR609565,CR620178,CR621308,CR621686,CR623046,M60091,AK303279 AAB59592,NP_000146,CAH69856,EAW58426,EAW58427,EAW58428,EAW58429,EAW58430,AAB59606,AAB59604,AAB59605,AAB59603,AAB59607,AAB59584,AAB59585,AAB59586,AAB59588,AAB59587,AAB59589,AAB59590,AAB59608,AAB59591,AAB59578,AAB59593,AAA81544,AAA81545,AAB59594,AAB59595,AAB59596,AAB59597,AAB59598,AAB59599,AAB59601,AAB59600,AAA81546,AAB59602,AAB59609,AAA81548,AAA81549,AAA82086,AAA81539,AAA81540,AAA81541,AAA81542,AAA81543,AAA82088,AAA81547,AAA74450,BAC04678,BAG53219,BAG56752,BAG64359,BAG36983,AAH15045,AAP88854,AAC83409,P07902,P78433,Q14354,Q14362,Q14366,Q14367,Q14368,Q14379,Q14388,Q16554,Q7KZ63,Q8N8Y3,Q9UMJ9,BAG61874,ADQ32769 Hs.522090 UDP-glucose--hexose-1-phosphate uridylyltransferase|gal-1-P uridylyltransferase|galactose-1-phosphate uridyl transferase|galactose-1-phosphate uridylyltransferase protein-coding 732024 GAMT guanidinoacetate N-methyltransferase The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1601275,1300048,1580863,1359082,1359081 8651275,9325156,8547310,19343046,19161160,19027335,17336114,17171576,16899382,15489334,15057824,12477932,10531498,9570966,9305847,10893433,19288536 1601275,1359082,1359081 2593 NM_000156,NM_138924,NG_009785,AC005329,AF010246,AF010247,AF010248,AF188893,CH471139,AF086508,AK289465,AK297487,BC016760,BC017936,BI914772,BT007034,CR592539,CR598497,CR622940,Z49878 NP_000147,NP_620279,AAC27668,AAD04781,AAF01461,EAW69505,EAW69506,BAF82154,BAG59905,AAH16760,AAH17936,AAP35682,CAA90035,Q14353 Hs.81131 PIG2|TP53I2 guanidinoacetate N-methyltransferase protein-coding 2293179 GAMTP guanidinoacetate N-methyltransferase pseudogene 391491 NG_007653,AC013435,AC073476 GAMTP pseudo 3277534 GAMTP2 guanidinoacetate N-methyltransferase pseudogene 2 100129452 AL161716,NG_016563 pseudo 1317147 GAN gigaxonin This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq] 1580863 12147674,16227972,16303566,19168853,18595793,17587580,17578852,17331252,17256086,17081983,15489334,14702039,12655563,12477932,11971098,11062483,9450783,15778465,19844255,20379614,15983046,20562859 8139 NM_022041,NG_009007,AC009148,AC092139,CH471114,AF291673,AK095378,BC016717,BC044840 NP_071324,EAW95535,AAG35311,BAG53035,AAH44840,Q9H2C0,ADR82652 Hs.112569 FLJ38059|GAN1|KLHL16 gigaxonin|kelch-like protein 16 protein-coding 1320293 GANAB glucosidase, alpha; neutral AB 14667819,17353931,17672918,17081065,15489334,12477932,12133958,11564800,10929008,10921916,10764838,10764837,9148925,12719582,8218172,2355006,2283726,2136376,2076345,19737279,8910335,7788527,6342981,3881423,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177,1678778,12560567,11752220,8794362,8794361,8416962,2959866,16547752,20562859,18303019 23193 AK299819,AK302752,AK314370,BC005405,BC017433,BC017435,BC034439,BC065266,BG720650,CR592838,CR604770,CR609998,CR612897,CR622917,D42041,NM_198335,AF460334,AP001458,CH471076,AF144074,AJ000332,AK026548,AK026567,AK026997,AK295806,NM_198334 BAG58624,BAG61688,BAG63965,AAH05405,AAH17433,AAH17435,AAH65266,BAA07642,Q14697,Q9BS14,NP_938148,NP_938149,AAM83349,EAW74045,EAW74046,EAW74047,EAW74048,EAW74049,EAW74050,AAF66685,CAA04006 Hs.595071 G2AN|GLUII|GlULL|GluII|KIAA0088 alpha glucosidase II alpha subunit|alpha-glucosidase 2|glucosidase II subunit alpha|neutral alpha-glucosidase AB protein-coding 1350162 GANC glucosidase, alpha; neutral C Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. [provided by RefSeq] 1300193,1580863 3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177,1678778,12560567,11752220,8794362,8794361,8416962,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,12370436,16381901,15489336,15489334,14702039,14675785,12477932,12434312,11076863,7030525,6995030,6994494,6369775,6362728,3135493,1352226,8093218,3264072,19588081,20800603 1300193 2595 AC012651,AC022468,AF525397,AF545045,AF545046,AK074037,AK074330,AK301467,BC059406,BC093833,BC112051,BE893238,BM999150,BQ000944,CR618292,NM_198141 NP_937784,AAO14993,AAN74756,AAN74757,BAB84863,BAG62987,AAH59406,AAH93833,AAI12052,Q2M2A3,Q8TET4,CAL37469,CAL38344,AAI51224 Hs.143261 MGC138256 neutral alpha-glucosidase C protein-coding 730980 GAP43 growth associated protein 43 The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 20379614,9139733,3272162,17619016,17577668,17412328,16381901,16344560,15694236,15489336,15489334,14702039,12898703,12805215,12704705,12477932,12105219,12034726,11978831,11528129,11256614,11238933,11076863,10544214,10521589,10391209,9881859,9774477,9742146,9618702,8900147,8746449,8737678,8694767,8231732,3272163,2140056,1828073,1533624,1281863,8872303,1385623,19593683 2596 CR614045,CR623492,DA701390,M25667,NM_002045,NM_001130064,AC012598,AC092468,AC119795,AY842481,CH471052,S66533,S66534,X84309,AF279774,AK123311,AK289699,AK290100,AK313658,BC007936,BT019771,BT019810,BX648458,CR607941,CR612258 AAA52516,P17677,Q5U058,Q6LB24,CAL37637,CAL38386,ABM84170,ABM87573,NP_002036,NP_001123536,AAV88094,EAW79594,AAB28649,CAA59050,BAF82388,BAF82789,BAG36412,AAH07936,AAV38576,AAV38613 Hs.134974 B-50|PP46 axonal membrane protein GAP-43|calmodulin-binding protein P-57|growth-associated protein 43|nerve growth-related peptide GAP43|neural phosphoprotein B-50|neuromodulin|neuron growth-associated protein 43|protein F1 protein-coding 735871 GAPDH glyceraldehyde-3-phosphate dehydrogenase The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The enzyme exists as a tetramer of identical chains. Many pseudogenes similar to this locus are present in the human genome. [provided by RefSeq] 1580863,2302795,2302804,1300048,1358618,2315975,2315979 20610654,16501887,20471030,8650074,8619474,8612237,8473906,8451199,8181459,8075252,7880402,7498159,6499844,6096821,6096136,6095107,3664468,3027061,2987855,2793178,2394733,1999197,1924305,1602151,1193541,957435,18206965,15479637,20177150,15907785,15839736,15769908,15746184,15716040,15680915,15635413,15592455,15507493,15489334,15485821,15383276,15312048,15199064,15001839,14760703,14730345,14630908,14515148,12921788,12887926,12842822,12842090,12829261,12753082,12697324,12665801,12553051,12506084,12503091,12477932,12428732,12419855,12381782,12200519,12140138,12121569,12087577,12008025,11846445,11735259,11724794,11488911,11451542,11157717,11011077,10944468,10897012,10617673,10407144,10097256,9886087,9308888,9110174,8872471,3170585,7030790,17540579,19464723,19405953,19165527,19161537,18776667,18776186,18708368,18682386,18552833,18448829,18364388,18340469,18163542,17989880,17597534,17553795,17540725,17456004,17387692,17373842,17353931,17324518,17121833,17081983,17027006,17015754,16892178,16832079,16778134,16751257,16713569,16682416,16515701,16510976,16474839,16396496,16289162,16239728,16236267,16186172,16169070,16139273,16082386,16037232,15985219,15976103,15952740,20707929,15604093,15628863,15951807,16799092,19001379,19430704,19605696,19621076,19650766,19747091,19800890,19837666,19874799,19940145,20181627,20381070,20664973,15107835,20407807,20800603,20864222 2302795,2302804,1358618,2315975,2315979 2597 CR610242,CR610390,CR610800,CR610903,CR611246,CR611578,CR611963,CR612172,CR612181,CR612444,CR612987,CR613037,CR613402,CR613441,CR613523,CR613741,CR613888,CR614637,CR614775,CR615270,CR615400,CR615404,CR616023,CR616212,CR616276,CR616330,CR616408,CR616755,CR617399,CR617400,CR617884,CR618117,CR618557,CR619302,CR619397,CR619738,CR619742,CR620146,CR620244,CR620334,CR621621,CR621806,CR622377,CR622408,CR622647,CR623498,CR623523,CR623528,CR623561,CR623812,CR623921,CR624067,CR592891,CR593185,CR593307,CR593520,CR593586,CR593979,CR594180,CR594204,CR595413,CR596322,CR596633,CR597106,CR597134,CR597244,CR597330,CR597507,CR598048,CR598228,CR598336,CR598400,CR598439,CR598463,CR598468,CR598642,CR598907,CR599554,CR599595,CR599926,CR600131,CR600441,CR600506,CR600594,CR600612,CR600683,CR600937,CR601560,CR601654,CR601984,CR602408,CR602482,CR602656,CR602720,NG_007073,AC006064,AY340484,CH471116,J04038,AB062273,AF261085,AJ844645,AK026525,AK299448,AK308198,AY007133,AY633612,BC001601,BC004109,BC009081,BC013310,BC020308,BC023632,BC025925,BC026907,BC029340,BC029618,BC083511,BT006893,CR407671,CR590092,CR590870,CR590910,CR591106,CR591332,CR591732,CR592035,CR592287,NM_002046,CR602731,CR603185,CR603770,CR603857,CR604169,CR604174,CR604219,CR604233,CR604357,CR605432,CR606107,CR606345,CR606580,CR606887,CR608101,CR608138,CR608307,CR608308,CR608433,CR608480,CR608954,CR609371,CR609685,CR609914,CR609918,CR624316,CR624396,CR624476,CR625289,CR626004,DQ403057,EF036498,J02642,M17851,M28283,M33197,X01677,X53778 NP_002037,AAP88932,EAW88786,EAW88787,AAA53191,BAB93466,AAF99678,CAH59756,BAG61421,AAG01996,AAV33305,AAH01601,AAH04109,AAH09081,AAH13310,AAH23632,AAH25925,AAH26907,AAH29618,AAH83511,AAP35539,CAG28599,ABD77190,ABO65084,AAA52496,AAA86283,AAA52519,AAA52518,CAA25833,CAA37794,P04406,Q0QET7,Q16768,Q2TSD0,Q5ZEY3,ABM82483,ABM85670 Hs.544577,Hs.592355,Hs.598320,Hs.479728 G3PD|GAPD|MGC88685 OTTHUMP00000174432|OTTHUMP00000174434|aging-associated gene 9 protein|glyceraldehyde 3-phosphate dehydrogenase|glyceraldehyde-3-phosphate dehydrogenase|peptidyl-cysteine S-nitrosylase GAPDH protein-coding 1343589 GAPDHL1 glyceraldehyde-3-phosphate dehydrogenase-like 1 2793178 391077 NG_009338,AL121995 GAPDHL1|GAPDL1 pseudo 1353679 GAPDHL10 glyceraldehyde-3-phosphate dehydrogenase-like 10 2793178 389849 NG_006129,AL139811 GAPDHL10|GAPDL10 pseudo 1346814 GAPDHL11 glyceraldehyde-3-phosphate dehydrogenase-like 11 2793178 645256 NG_007000,AP005241 GAPDHL11|GAPDL11 pseudo 1343600 GAPDHL12 glyceraldehyde-3-phosphate dehydrogenase-like 12 2793178 2609 NG_006127,AL732579 GAPDHL12|GAPDL12 pseudo 1352047 GAPDHL13 glyceraldehyde-3-phosphate dehydrogenase-like 13 2793178 100132601 NG_009341,AC096553,CH236948 GAPDHL13|GAPDL13 pseudo 1348918 GAPDHL14 glyceraldehyde-3-phosphate dehydrogenase-like 14 2793178 2611 NG_009332,AL596092 GAPDHL14|GAPDL14 pseudo 1349845 GAPDHL15 glyceraldehyde-3-phosphate dehydrogenase-like 15 pseudogene 2793178 642259 NG_007004,AP003120 GAPDHL15|GAPDL15 pseudo 1352447 GAPDHL16 glyceraldehyde-3-phosphate dehydrogenase-like 16 2613 NG_003027,AC108104,AC108112 GAPDHL16|GAPDL16 pseudo 1345775 GAPDHL18 glyceraldehyde-3-phosphate dehydrogenase-like 18 346085 NG_009329,AL627443 GAPDHL18|GAPDL18 pseudo 1348752 GAPDHL19 glyceraldehyde-3-phosphate dehydrogenase-like 19 442262 NG_007007,AL035604 GAPDHL19|GAPDL19 pseudo 1348689 GAPDHL3 glyceraldehyde-3-phosphate dehydrogenase-like 3 2793178 645024 NG_006132,AC007319 GAPDHL3|GAPDL3 pseudo 1345398 GAPDHL4 glyceraldehyde-3-phosphate dehydrogenase-like 4 9847074,2793178 2601 NG_003011,AC092658 GAPDHL4|GAPDL4 pseudo 1625824 GAPDHL5 glyceraldehyde-3-phosphate dehydrogenase-like 5 2793178 100093717 NG_006133,AL391416 pseudo 1353166 GAPDHL6 glyceraldehyde-3-phosphate dehydrogenase-like 6 2793178 729403 NG_009327,AC091231 GAPDHL6|GAPDL6 pseudo 1350305 GAPDHL7 glyceraldehyde-3-phosphate dehydrogenase-like 7 12477932,2793178 100128961 NG_009346,AP000424,BC009500,BC040702 Hs.700353 GAPDHL7|GAPDL7 pseudo 1346620 GAPDHL8 glyceraldehyde-3-phosphate dehydrogenase-like 8 2793178 442231 NG_006998,AL133475 GAPDHL8|GAPDL8 pseudo 1346156 GAPDHL9 glyceraldehyde-3-phosphate dehydrogenase-like 9 2793178 391069 NG_006130,AL356748 GAPDHL9|GAPDL9 pseudo 1346878 GAPDHP1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 6542494,6096136 2616 NG_001123,AC091810,M26873,X01111 GAPDHL2|GAPDL2|GAPDP1 pseudo 1342916 GAPDHP14 glyceraldehyde-3-phosphate dehydrogenase pseudogene 14 10830953 54050 NG_009356,AF124730 GAPDP14 pseudo 1354051 GAPDHP15 glyceraldehyde-3-phosphate dehydrogenase pseudogene 15 642317 NG_006993,AL021368 GAPDH-Lp|GAPDP15|b55C20.4 pseudo 1351448 GAPDHP16 glyceraldehyde-3-phosphate dehydrogenase pseudogene 16 387491 NG_009468,AF127936 GAPDP16 pseudo 2881606 GAPDHP17 glyceraldehyde-3-phosphate dehydrogenase pseudogene 17 12815422,9847074 360008 AC009494,NG_002925 GAPDHP18 pseudo 3341351 GAPDHP18 glyceraldehyde 3 phosphate dehydrogenase pseudogene 18 12815422,9847074 340623 AC009494,NG_002923 pseudo 3566505 GAPDHP19 glyceraldehyde 3 phosphate dehydrogenase pseudogene 19 12815422 140028 AC010133,NG_002924 pseudo 1350609 GAPDHP2 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 170516 NG_001038,AL121782 GAPDP2|dJ585I14.1 pseudo 3498710 GAPDHP20 glyceraldehyde 3 phosphate dehydrogenase pseudogene 20 343338 AL356986,NG_009347 pseudo 3277961 GAPDHP21 glyceraldehyde 3 phosphate dehydrogenase pseudogene 21 389970 AC069545,NG_009342 pseudo 3161436 GAPDHP22 glyceraldehyde 3 phosphate dehydrogenase pseudogene 22 390421 AL391122,NG_011332 pseudo 3004820 GAPDHP23 glyceraldehyde 3 phosphate dehydrogenase pseudogene 23 391075 AL359553,NG_009339 pseudo 2975371 GAPDHP24 glyceraldehyde 3 phosphate dehydrogenase pseudogene 24 391162 AC114496,NG_009350 pseudo 2923521 GAPDHP25 glyceraldehyde 3 phosphate dehydrogenase pseudogene 25 391367 AC016995,NG_006131 pseudo 3498012 GAPDHP26 glyceraldehyde 3 phosphate dehydrogenase pseudogene 26 392374 AL357935,NG_009355 pseudo 2902773 GAPDHP27 glyceraldehyde 3 phosphate dehydrogenase pseudogene 27 401960 AL109966,AL121995,NG_009337 pseudo 3457313 GAPDHP28 glyceraldehyde 3 phosphate dehydrogenase pseudogene 28 441572 AL359986,NG_009344 pseudo 3399172 GAPDHP29 glyceraldehyde 3 phosphate dehydrogenase pseudogene 29 441893 AC097059,NG_009349 pseudo 2947210 GAPDHP30 glyceraldehyde 3 phosphate dehydrogenase pseudogene 30 643228 AC007992,NG_009345 pseudo 2837661 GAPDHP31 glyceraldehyde 3 phosphate dehydrogenase pseudogene 31 643739 AC131206,NG_009353 pseudo 3516599 GAPDHP32 glyceraldehyde 3 phosphate dehydrogenase pseudogene 32 644213 AL121995,CR598865,CR605102,CR608044,CR613726,CR618538,CR619841,NG_011343 Hs.647686 pseudo 3516598 GAPDHP33 glyceraldehyde 3 phosphate dehydrogenase pseudogene 33 644237 AL109966,NG_009336 pseudo 2923289 GAPDHP34 glyceraldehyde 3 phosphate dehydrogenase pseudogene 34 646877 AL136160,NG_011461 pseudo 2881248 GAPDHP35 glyceraldehyde 3 phosphate dehydrogenase pseudogene 35 647001 AC136611,NG_009340 pseudo 2837642 GAPDHP36 glyceraldehyde 3 phosphate dehydrogenase pseudogene 36 647249 AC134503,NG_016486 pseudo 3516597 GAPDHP37 glyceraldehyde 3 phosphate dehydrogenase pseudogene 37 651258 NG_006079,Z86090 pseudo 3277632 GAPDHP38 glyceraldehyde 3 phosphate dehydrogenase pseudogene 38 729493 AC011551,NG_009334 pseudo 3457159 GAPDHP39 glyceraldehyde 3 phosphate dehydrogenase pseudogene 39 100128589 AC117389,NG_009351 pseudo 3516427 GAPDHP40 glyceraldehyde 3 phosphate dehydrogenase pseudogene 40 100131743 AC068657,NG_009333 pseudo 3476330 GAPDHP41 glyceraldehyde 3 phosphate dehydrogenase pseudogene 41 100131935 AL512427,AL590227,NG_007298 pseudo 3418288 GAPDHP42 glyceraldehyde 3 phosphate dehydrogenase pseudogene 42 100240707 AL590702,NG_009328 pseudo 3418287 GAPDHP43 glyceraldehyde 3 phosphate dehydrogenase pseudogene 43 100240708 AC090519,NG_009331 pseudo 3418286 GAPDHP44 glyceraldehyde 3 phosphate dehydrogenase pseudogene 44 100240709 AC025264,NG_009335 pseudo 3418285 GAPDHP45 glyceraldehyde 3 phosphate dehydrogenase pseudogene 45 100240710 AL590365,NG_009343 pseudo 3418284 GAPDHP46 glyceraldehyde 3 phosphate dehydrogenase pseudogene 46 100240711 AC104836,NG_009348 pseudo 3418283 GAPDHP47 glyceraldehyde 3 phosphate dehydrogenase pseudogene 47 100240712 AC116423,NG_009352 pseudo 3418282 GAPDHP48 glyceraldehyde 3 phosphate dehydrogenase pseudogene 48 100240713 AC010907,NG_009354 pseudo 4110255 GAPDHP49 glyceraldehyde 3 phosphate dehydrogenase pseudogene 49 100421189 AC097461,NG_023664 pseudo 4110229 GAPDHP50 glyceraldehyde 3 phosphate dehydrogenase pseudogene 50 100421236 AC106715,NG_025600 pseudo 4110228 GAPDHP51 glyceraldehyde 3 phosphate dehydrogenase pseudogene 51 100421271 AL050343,NG_026939 pseudo 4110202 GAPDHP52 glyceraldehyde 3 phosphate dehydrogenase pseudogene 52 100421313 NG_024895,AL136219 pseudo 4110203 GAPDHP53 glyceraldehyde 3 phosphate dehydrogenase pseudogene 53 100421318 AL034426,NG_025000 pseudo 4110201 GAPDHP54 glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 100421319 AL121776,NG_025009 pseudo 4110200 GAPDHP55 glyceraldehyde 3 phosphate dehydrogenase pseudogene 55 100421324 AC090516,NG_025379 pseudo 4110230 GAPDHP56 glyceraldehyde 3 phosphate dehydrogenase pseudogene 56 100421232 AC092540,NG_025161 pseudo 4110256 GAPDHP57 glyceraldehyde 3 phosphate dehydrogenase pseudogene 57 100421188 AC098581,NG_023572 pseudo 1354511 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq] 1303348,737633,1580863,1358618 20534741,10714828,17353931,18298375,17192785,17047026,16832079,16700075,16324157,15507493,15489334,15342556,12477932,11330647,11225901,10655454,9373149,9264469,8125298,4349855,2793178,15057824,16820410,20880607 1303348,737633,1358618 26330 AC002389,AF216641,AJ005371,AK225727,AK314980,NM_014364,AY306129,BC036373,BP370184 NP_055179,AAB64181,AAF87970,CAA06501,BAG37479,AAQ75383,AAH36373,O14556,ABM81782,ABM84936 Hs.248017 GAPD2|GAPDH-2|GAPDS|HSD-35 glyceraldehyde-3-phosphate dehydrogenase, testis-specific|spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2|spermatogenic glyceraldehyde-3-phosphate dehydrogenase protein-coding 1343232 GAPDL17 glyceraldehyde-3-phosphate dehydrogenase-like 17 2614 1351873 GAPDL2 glyceraldehyde-3-phosphate dehydrogenase-like 2 2599 XM_290433,X01111 1604723 GAPT GRB2-binding adaptor protein, transmembrane 15489334,14702039,12477932 202309 NM_152687,AC008814,CH471123,AK090960,BC063534 NP_689900,EAW54974,EAW54975,BAC03557,AAH63534,Q8N292 Hs.547697 C5orf29|FLJ33641|MGC70478 OTTHUMP00000161880|OTTHUMP00000221542|OTTHUMP00000221543|growth factor receptor-bound protein 2-binding adapter protein, transmembrane|protein GAPT protein-coding 1606808 GAPVD1 GTPase activating protein and VPS9 domains 1 16410077,17545148,15324660,15302935,14702039,12477932,8889548,7566098,10819331 26130 AL354710,AL627223,CH471090,AA303338,AB040954,AK000126,AK021533,AK023841,AK027049,AK056493,AK096224,NM_015635,AK294542,AK296381,AL080196,AL834325,BC010027,BC013635,BC021119,BC110990,BC114937,BC114962,CB243670,CR590501,CR591882,DQ233254 NP_056450,CAH71014,EAW87622,EAW87623,EAW87624,EAW87625,EAW87626,EAW87627,EAW87628,EAW87629,BAA96045,BAA90959,BAG51035,BAG51229,BAG53234,BAG57749,BAG59054,CAB45770,CAD38993,AAH13635,AAH21119,AAI14938,AAI14963,ABB71126,Q14C86,CAQ08738,CAQ08739,CAQ08740 Hs.495134 DKFZp434C212|GAPEX5|KIAA1521|MGC138847|MGC138848|RAP6 GAPex-5|GTPase-activating protein and VPS9 domain-containing protein 1|OTTHUMP00000196806|OTTHUMP00000215489|OTTHUMP00000215490|OTTHUMP00000215491|rab5-activating protein 6 protein-coding 1346713 GAR1 GAR1 ribonucleoprotein homolog (yeast) This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq] 1580863 11509230,8766832,18989882,17903301,15635413,15489334,15146197,15044956,12477932,12244096,11790298,11074001,10757788,7566098,1821816,19615732,19917616,20332099 54433 NM_018983,NM_032993,AC126283,CH471057,AA311919,AJ276003,AK310489,AY780787,BC003413,CN428426,CR618648 NP_061856,NP_127460,EAX06253,EAX06254,CAB76563,AAV98357,AAH03413,Q9NY12,ABM85083,ABW03722 Hs.69851 NOLA1 H/ACA ribonucleoprotein complex subunit 1|OTTHUMP00000219723|nucleolar protein family A member 1|nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)|snoRNP protein GAR1 protein-coding 731635 GARNL1 GTPase activating Rap/RanGAP domain-like 1 727202 10048485,18029348,19520869,16903783,15498464,15489334,15252450,15037602,14702039,12477932,12200424,19710015,19733229,20379614 727202 253959 NM_014990,AL137818,AL160231,AL162311,CH471078,AB020691,AB511280,AK022988,AK126975,AL050050,AL834362,AY596970,NM_194301,AY596971,BC016305,BC042013,BC042045,BC150596,DQ786317 AAT49271,NP_919277,NP_055805,EAW65868,EAW65869,EAW65870,EAW65871,BAA74907,BAH83561,BAB14349,BAC86772,CAB43250,CAD39026,AAT49272,AAH16305,AAH42013,AAH42045,AAI50597,Q6GYQ0,Q9H984,Q9Y408,AAI68361 Hs.113150 DKFZp566D133|DKFZp667F074|GARNL1|GRIPE|KIAA0884|TULIP1 GAP-related interacting protein to E12|GAP-related-interacting partner to E12|GTPase activating RANGAP domain-like 1|GTPase activating Rap/RanGAP domain-like 1|GTPase-activating Rap/Ran-GAP domain-like 1|RalGAPalpha1|p240|ral GTPase-activating protein alpha subunit 1|ral GTPase-activating protein subunit alpha-1|tuberin-like protein 1 protein-coding 1352284 GARNL2P GTPase activating Rap/RanGAP domain-like 2 pseudogene 26134 NG_004673,AL158070,AL161627 DKFZp566D133|GARNL2|GARNL2P|bA235C23.1 pseudo 1346418 GARNL3 GTPase activating Rap/RanGAP domain-like 3 737633 16344560,14702039,12477932,11230166,18711365,20379614 737633 84253 NM_032293,AL445222,AL450263,CH471090,AK095679,AK126704,AK293732,AK294970,AL136573,AL834149,BC034983,DA183830,AK296246 NP_115669,CAH72925,CAH72927,CAI41455,CAI41457,CAI41459,EAW87654,EAW87655,EAW87656,EAW87657,EAW87658,EAW87659,BAC04605,BAG57158,BAG58042,CAB66508,CAD38860,AAH34983,Q5JS19,Q5VVW2,Q5VVW4,BAH12292 Hs.29304 DKFZp434O131|DKFZp761J1523|FLJ38360|RP11-356B19.1|bA356B19.1 GTPase activating RANGAP domain-like 3|GTPase-activating Rap/Ran-GAP domain-like protein 3|OTTHUMP00000211604 protein-coding 1346377 GARNL4 GTPase activating Rap/RanGAP domain-like 4 18039662,15632203,15383317,12477932,10470851,20936779,19528539,20379614 23108 NM_015085,NM_001100398,AC002316,AC005696,AC015921,AC097370,CH471108,AB028962,AJ628446,AJ628447,AK000478,AK124640,AK127021,BC037493,BC140870,BC140871,BE208439,BU629928,CR617475,CR627427,DN831680,NG_013030 NP_055900,NP_001093868,EAW90526,EAW90527,EAW90528,EAW90529,BAA82991,CAF31652,CAF31653,BAC85912,AAI40871,AAI40872,CAH10514,Q684P5 Hs.499659 DKFZp686O238|GARNL4|KIAA1039|RAP1GA3|Rap1GAP2 GTPase activating RANGAP domain-like 4|GTPase activating Rap/RanGAP domain-like 4|GTPase-activating Rap/Ran-GAP domain-like protein 4|rap1 GTPase-activating protein 2 protein-coding 1317292 GARS glycyl-tRNA synthetase This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq] 1298623,1580863 18029348,20877624,19412816,7753621,7961834,19329989,18275849,17595294,17545306,17544401,17142907,17101916,16534118,15489334,12853948,12690580,12690205,12477932,11829477,9524218,8872480,8816763,8595897,7962006,7539919,15452148,16169070,19710017 1298623 2617 NM_002047,NG_007942,AACC02000087,AC004976,AC005154,AC006969,CH471073,AA772440,AK074524,AK295490,AK310351,BC000065,BC007722,BC007755,CR594947,CR610689,D30658,U09510,U09587 NP_002038,EAL24449,AAC71652,AAS00367,EAW93960,EAW93961,BAG51964,BAG58412,AAH07722,AAH07755,BAA06338,AAA86443,AAA57001,P41250,Q75MN1,ABM83699,ABM87020 Hs.404321 CMT2D|DSMAV|GlyRS|HMN5|SMAD1 AP-4-A synthetase|Charcot-Marie-Tooth neuropathy 2D|Charcot-Marie-Tooth neuropathy, neuronal type, D|diadenosine tetraphosphate synthetase|glycine tRNA ligase|glycine--tRNA ligase|glycyl-tRNA synthetase protein-coding 1318653 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1547842,1580863 20634891,2147474,2050105,17353931,18029348,19336370,19161160,18978678,17902044,17198385,16467096,16344560,16026156,15592455,15489334,12755606,12477932,12450384,10830953,9328467,9224613,8299947,6232198,2183217,1574589,19301155,19936946 1547842 2618 NM_175085,NM_001136005,NM_001136006,AF008653,AF008654,AP000302,AP000303,CH471079,AB208785,AF008655,AK292560,AK292897,AK295980,BC038958,BC068438,BC093641,BC101565,BC107712,BM172468,BQ010035,BQ477393,BX648124,CR593828,CR622715,D32051,DB062974,DB236855,NM_000819,M32082,X54199 NP_000810,NP_780294,NP_001129477,NP_001129478,AAB70812,AAB70813,EAX09825,EAX09826,EAX09827,EAX09828,EAX09829,BAD92022,AAB71834,BAF85249,BAF85586,BAG58755,AAH38958,AAH93641,AAI01566,AAI07713,BAA06809,Q59HH3,Q71VH3,AAA60077,CAA38119,O14660,P22102,Q15374,Q3B7A7 Hs.473648 AIRS|GARS|GARTF|MGC47764|PAIS|PGFT|PRGS OTTHUMP00000068333|OTTHUMP00000197910|trifunctional purine biosynthetic protein adenosine-3 protein-coding 1345993 GAS1 growth arrest-specific 1 Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq] 1580863 8127893,19460624,18981472,18394855,17726382,16551639,12477932,11906213,11846389,11572986,10996315,9466658,8889548,8307588,7956349,1505026,15103018,20628624,11356029,19638344,20050020,20583177 2619 NM_002048,AL158149,BC074809,BC074908,BC132682,BC136586,BM661942,L13698 NP_002039,CAH71308,AAH74809,AAH74908,AAI32683,AAI36587,AAA72368,P54826 Hs.65029 GAS-1|Growth arrest-specific gene-1|growth arrest-specific protein 1 protein-coding 1348959 GAS2 growth arrest-specific 2 The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 20677014,20679491,9521882,1607387,16344560,15817486,15489334,15124103,12477932,11387205,11337467,10564664,3409319,1056466 2620 NM_001143830,NM_177553,NM_005256,AC006299,AC103801,CH471064,AI374985,AK313734,AU099094,BC013326,BC040470,CR450285,DA345287,U95032,BC005077 NP_001137302,NP_808221,NP_005247,EAW68317,EAW68318,BAG36475,AAH13326,AAH40470,CAG29281,AAC52058,O43903,Q7Z3X8,AAH05077 Hs.632151 MGC32610 GAS-2|growth arrest-specific protein 2 protein-coding 1322543 GAS2L1 growth arrest-specific 2 like 1 The protein encoded by this gene, a member of the GAS2 family, is similar in sequence to the mouse protein Gas2, an actin-associated protein expressed at high levels in growth-arrested cells. Expression of the mouse Gas2 gene is negatively regulated by serum and growth factors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 11799066,19375645,17081983,15489334,14702039,12584248,12477932,9373149,8975699,8125298,1607387,20537721 10634 NM_006478,NM_152237,AC002059,CH471095,Y07848,AK093386,AK122829,AK223602,AK225484,AK301715,BC001782,BC007624,BC011047,BI601743,BM144477,BM803267,CR594649,CR599941,CR603618,NM_152236,CR614134,CR617835,Y07846 NP_689422,NP_006469,NP_689423,EAW59788,EAW59789,EAW59790,EAW59791,EAW59792,EAW59793,EAW59794,EAW59795,CAA69176,BAC04150,BAG53749,BAD97322,BAG63186,AAH01782,AAH07624,AAH11047,CAA69174,A0A5E8,Q99501 Hs.322852 GAR22|MGC17243 GAS2-like protein 1|GAS2-related protein on chromosome 22|OTTHUMP00000199158|OTTHUMP00000199161|OTTHUMP00000199162|growth arrest-specific protein 2-like 1 protein-coding 1317311 GAS2L2 growth arrest-specific 2 like 2 1580863 12584248,8889548 246176 NM_139285,AC006237,CH471147,AF508784,AF508785,CB241159 NP_644814,EAW80131,AAM34264,AAM34265,Q8NHY3,AAI48637 Hs.591194 GAR17 GAS2-like protein 2|GAS2-related protein on chromosome 17|growth arrest-specific protein 2-like 2 protein-coding 1315710 GAS2L3 growth arrest-specific 2 like 3 1580863 15489334,14702039,12477932 283431 NM_174942,AC010200,AC010209,CH471054,AK095594,AK315189,BC043366 NP_777602,EAW97641,EAW97642,EAW97643,EAW97644,BAG53091,BAG37629,AAH43366,Q86XJ1 Hs.20575 GAS2-like protein 3|growth arrest-specific protein 2-like 3 protein-coding 1346877 GAS5 growth arrest-specific 5 (non-protein coding) 1302234 18836484,18406879,12477932,9819378,20124551 1302234 60674 NR_002578,AF141346,AL136170,AK025846,AL110141,BC038733,BC070486,CR595169,CR623807 Hs.531856,Hs.656411 NCRNA00030|SNHG2 miscrna 736280 GAS6 growth arrest-specific 6 This gene product is a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation, and may play a role in thrombosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1579935,1579883,1579938,1580863,1579881,1579882 20664904,20088931,20417630,19567592,19657094,19696043,19744001,19888345,19922767,19965679,20048160,20103767,20126470,7854420,19369636,19132213,18840707,18760998,18680538,18570189,18395422,18174285,18172262,17897008,17721624,16999853,16723520,16556867,16362042,16344560,15958209,15605394,15507525,15489334,15452374,15130893,15108283,14750094,14702039,12768229,12764109,12490074,12477932,12218057,12029073,11175853,10954847,9367994,9326369,9326368,9259426,8939948,8637702,8621659,8604045,8595896,8336730,7867073,15184064 1579935,1579883,1579938,1579881,1579882 2621 EF631974,NM_001143945,NM_001143946,AY170372,AY256843,BK001240,BX072579,CH471085,AK092028,AK122969,AK126533,AK290803,AK303145,AL833761,NM_000820,BC030708,BC038984,BQ181504,BX380508,DB290970,L13720 ABR09277,NP_000811,NP_001137417,NP_001137418,AAO41859,AAO84057,DAA01155,CAH71174,EAX09226,BAG52469,BAG53826,BAC86580,BAF83492,BAG64249,CAH56234,AAH38984,AAA58494,Q14393,Q658L2 Hs.646346 AXLLG|AXSF|DKFZp666G247|FLJ34709 AXL receptor tyrosine kinase ligand|AXL stimulatory factor|GAS-6|growth arrest specific 6|growth arrest-specific protein 6 protein-coding 1349821 GAS7 growth arrest-specific 7 Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq] 1302235,1580863 19801671,19851296,19861958,20198315,20379614,9736752,15948147,15489334,15342556,12477932,11795944,10706619,9455477,9373149,8125298,7626897,20936779,19913121,20628086 1302235 8522 AK293755,AK293834,AK294829,AK299574,BC006454,BC113835,BP202727,BT006891,CR596978,CR608158,NM_003644,NM_001130831,AC000003,AC005747,AC026591,AC083783,AC107938,CH471108,AB007854,AB209030,AF231997,AJ224876,AK057761,AK225165,AK292987,AK307987,AK309722,AK315162,AY327406,BC001152,NM_201433,NM_201432 BAH11588,BAH11606,BAH11897,BAH13071,AAH06454,AAI13836,AAP35537,O60861,Q29RX5,Q59GS9,ABM83728,ABM86836,NP_958836,NP_003635,NP_001124303,EAW90011,EAW90012,EAW90013,BAA23690,BAD92267,AAG26331,CAA12177,BAF85676,BAG37606,AAP92798,AAH01152,NP_958839 Hs.462214 KIAA0394|MGC1348|MLL/GAS7 GAS-7|MLL/GAS7 fusion protein|growth arrest-specific protein 7 protein-coding 1317230 GAS8 growth arrest-specific 8 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. [provided by RefSeq] 1580863 20308539,17353931,9790751,10969087,17009870,15489334,12477932,11751847,19995461 2622 NM_001481,NR_023348,AC133919,AF050068,AF050069,AF050070,AF050071,AF050072,AF050073,AF050074,AF050075,AF050076,AF050077,AF050078,CH471184,AF050079,AK293958,AK294050,AK297857,AK303505,AK304731,AK315261,BC036781,BC104785,BC112121,BX647947,CR594745,CR597242,CR618999,CR623468,CR749499,DC371501 NP_001472,AAC69518,EAW66658,EAW66659,EAW66660,EAW66661,AAC69519,BAH11635,BAH11659,BAH12677,BAH13976,BAH14246,BAG37678,AAI04786,AAI12122,CAH18322,O95995,Q68D98 Hs.431792 GAS11|MGC138326 GAS-11|GAS-8|growth arrest specific 11|growth arrest-specific 11|growth arrest-specific protein 11|growth arrest-specific protein 8 protein-coding 735826 GAST gastrin Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. [provided by RefSeq] 1580863 7488110,18609694,18473402,18438722,18234640,18057001,17922093,17889508,17698249,17604853,17559360,17332476,17258885,17064691,17006979,16638693,16574647,16547500,16341674,16228228,16174078,15949639,15682471,15655830,15533775,15489334,15040018,14729624,14719064,14660571,14627349,12612900,12477932,12174892,12006703,11710799,11278902,11181948,11054648,10771309,9855703,9797370,9645429,9369230,8504433,8244379,8244378,8240296,8055952,7530658,17229384,20932834,6689486,6574456,6324077,6322186,6087340,5921183,5822140,3034736,3011648,2736261,2730647,871064,463490,17207965,19031134,19166966,19674135,19731026,19794299,20145424,18577758,16754659,20395538 2520 AAB19304 NM_000805,AC109319,AC130686,CH471152,K01254,M15958,X00183,BC069724,BC069762,BM768483,V00511 NP_000796,EAW60756,AAB59533,AAA52520,CAA25005,CAA25006,CAA25007,AAH69724,AAH69762,CAA23769,AAB19304,P01350,ADQ32945 Hs.2681 GAS gastrin protein-coding 731384 GATA1 GATA binding protein 1 (globin transcription factor 1) This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq] 704404,1580863 20410505,16648487,16631833,16628190,16607277,16543218,16249385,16225938,16186125,16012335,15967790,15895080,15772651,15701726,15684376,15673499,15644435,15613485,15563463,15542823,15489334,15314183,15265794,15226423,15136229,15123623,14966463,14744791,14691578,14668799,14656875,14636651,14623254,14512321,12857954,12816863,12724402,12649131,12609092,12586620,12576332,12560215,12496368,12490288,12489695,12483298,12477932,12432220,12359731,12242665,12202480,12200364,12196550,12172547,12145700,12045236,11867225,11809723,2104960,2467208,2300555,18029348,19453261,19447160,19411634,19351817,19212333,19204726,19172521,19114560,19097174,19049973,18979367,18930124,18780834,18714007,18689547,18599389,18586828,18443038,18206727,18191920,18059480,17881640,17763153,17713552,17654061,17576817,17538848,17420275,17408401,17332341,17196618,17167422,17148589,16861236,16840187,20143233,11724781,11675338,11418466,10700180,10438528,10364157,9230307,8507862,7678994,7568177,1999341,12767938,16407974,12556498,12239153,11018012,16107690,17132730,18078130,18793746,19437340,19509292,19513100,19522008,19556247,19633202,19654328,19721012,19825991,19850750,19924028,19941826,19965638,20101202,20339093,9209374,20418238,20554972,20679399,20729467,21041734,20064153,20211142,20807505 2623 NM_002049,NG_008846,AF196971,CH471224,AI057349,BC009797,M30601,X17254 NP_002040,EAW50749,EAW50750,EAW50751,AAH09797,AAA35885,CAA35120,P15976 Hs.765 ERYF1|GATA-1|GF-1|GF1|NFE1|XLTT GATA-binding factor 1|NF-E1 DNA-binding protein|erythroid transcription factor|erythroid transcription factor 1|gata binding protein 1|globin transcription factor 1|transcription factor GATA1 protein-coding 734291 GATA2 GATA binding protein 2 This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants. 1580863,704404 19913121,20628086,11877047,18078130,19198610,19522008,19528235,19684615,19706030,19714312,19772889,19860791,19864173,19885677,19941826,20363750,18250304,17654061,17347142,17095623,16960339,16934006,16672344,16607277,16344560,16153155,15837948,15673499,15659347,15632071,15489334,15328158,15254248,15001660,14702039,12750312,12646178,12483298,12477932,12432220,12406094,12145700,12073612,12045236,11964310,11787775,11567998,11278891,10938104,10873593,10731672,10411939,10367888,9517987,8972903,8504932,8078582,7876160,7568177,7541039,7519472,1714909,1563207,1370462,15016828,18029348,19453261,19304323,19212333,19168794,19097174,18849568,18720385,18550858,18452556,18308945,20634887 2624 NM_032638,NM_001145661,NM_001145662,AC080005,AF169253,CH471052,AI524325,AK127845,AK314826,BC002557,BC015577,BC015613,BC018988,BC051272,BC051342,BT006671,BX647499,DA636256,DA837371,M68891,M77810,CR621712 NP_116027,NP_001139133,NP_001139134,EAW79313,EAW79314,EAW79315,EAW79316,EAW79317,BAG37347,AAH02557,AAH15577,AAH15613,AAH18988,AAH51272,AAH51342,AAP35317,AAA35868,AAA35869,P23769,Q96BH8,ABM83067,ABM86261 Hs.367725 FLJ45948|MGC2306|NFE1B GATA-binding protein 2|OTTHUMP00000216240|endothelial transcription factor GATA-2 protein-coding 733638 GATA3 GATA binding protein 3 2314191,704404,1358706,1580863 18445004,20130088,17445472,17445473,20660789,20368097,19728080,19719829,18533032,18410415,18268121,18212358,18154704,18079734,18037162,18006915,17845581,17703412,17658279,17654061,17616709,17390031,17381824,17357106,17277157,17272506,17234745,17210674,17117487,17114920,17111354,17078870,17075044,16912130,16509533,16498264,16381901,16357129,16317090,16087702,15947486,15826950,15699146,15637551,15632006,15489336,15489334,15361840,15328158,15251440,15087456,2050118,8088776,15016828,10935639,7592673,10037815,1871134,19473628,19342088,19261198,19258923,19253381,19248112,19247692,19232384,19189213,19094228,19092634,19084267,19082709,19057839,18849568,18826115,18772129,18701459,18676680,18607915,14985365,14757746,12960249,12477932,12217316,12087127,12057898,11970965,11937547,11724781,11389161,11076863,10212281,9819382,9020185,2017177,1827068,12767938,11256614,17057718,17074191,17114435,18619618,19043799,19059610,19170196,19336263,19346497,19411068,19483726,19549328,19559773,19625176,19639723,19674970,19692168,19723756,19735555,19798694,19805038,19946260,20154722,20189993,20237292,20237496,20503287,15975924,16922677,18029348,20211142,20716621,21037568,21048031,19615257,20696860 2314191,1358706 2625 HI179114,HI179116,NM_002051,AL390294,AY497006,CH471072,AI024501,AI686327,AK298213,BC003070,BC006793,BC006839,BG287052,BM152193,M69106,NM_001002295,X55037,X55122,X58072,NG_015859,FB571433,FB571435 CBX53865,CBX53866,NP_001002295,NP_002042,CAH73143,CAH73144,AAR32096,EAW86367,EAW86368,BAG60483,AAH03070,AAH06793,AAA35870,CAA38877,CAA38916,CAA41102,P23771,CAL37449,CAL37566,CAR95134,CAR95135 Hs.524134 HDR|MGC2346|MGC5199|MGC5445 GATA-binding factor 3|gata-binding protein 3|trans-acting T-cell-specific transcription factor GATA-3 protein-coding 737140 GATA4 GATA binding protein 4 This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects. [provided by RefSeq] 1580390,704404,1580863 19913121,20585342,20592452,20628086,20654103,20807224,16556596,20554787,14612389,14583613,12907682,12775767,12606418,12606287,12530967,12530677,12477932,11994297,11724781,11585926,11481322,11297508,11158291,11003651,10948187,10790371,10728696,10446911,9927675,9568714,9312027,9207128,8978781,8455608,8007990,7791790,7721094,7665171,3413070,14578343,9858576,12845333,19666519,19479054,19353638,19302747,19276186,19018306,19008335,18672102,18653721,18426912,18405344,18076106,18055909,17912029,17805225,17643447,17592645,17584735,17548362,17403900,17352393,17290010,17253934,17211834,16823849,16607277,16604480,16470721,16341674,16337738,16159935,16137232,16110260,15810002,15666845,15653675,15585625,15542826,15389642,15337742,15235040,15153544,14984931,18227727,14702039,18983250,19353247,19509152,19543315,19649254,19678963,19781215,19915893,19918328,19995889,20041118,20081228,20133952,20201924,20206639,20222162,20363377,20450724,9566909,17848411,20347099,21060863,20211142,20595226,21055141 1580390 2626 NM_002052,NG_008177,AC069185,AC090790,CH471157,U28835,AF180736,AF318320,AK097060,AY740706,BC033672,BC068079,BC101580,BC105108,BC143434,BC143479,BM560562,BM768332,CR609988,D78260,DR003768,L34357 NP_002043,EAW65620,EAW65621,AAA70335,AAL55827,BAG53416,AAW51922,AAI01581,AAI05109,AAI43435,AAI43480,BAA11334,AAA58496,P43694,Q13222,Q16365,Q5IFM8,Q8WYX6 Hs.243987 MGC126629 GATA-binding factor 4|GATA-binding protein 4|transcription factor GATA-4 protein-coding 1354270 GATA5 GATA binding protein 5 The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq] 1580863 17912029,16823849,16337738,15585625,15489334,14715527,14612389,12477932,12011060,11780052,11408257,10567378,9566909,11375995,19509152,20222162,14986113 140628 NM_080473,AL499627,CH471077,BC047790,BC117356,BC117358,CA443143,HM015595 NP_536721,CAC36001,EAW75360,EAW75361,AAH47790,AAI17357,AAI17359,Q86VU4,Q9BWX5,ADL14516 Hs.352250 bB379O24.1 GATA binding factor-5|GATA-binding factor 5|GATA-binding protein 5|OTTHUMP00000031490|transcription factor GATA-5 protein-coding 735650 GATA6 GATA binding protein 6 1580863,2314194,704404 19913121,20581743,20628086,20628624,20631719,9315713,9294001,8125298,11375995,12944489,15016828,8975704,19666519,18769116,18535672,18454176,18405344,18227727,18177748,18078765,17785913,17626241,17403900,17390031,17070195,16968778,16607277,16159937,16150495,16137232,16110260,15913546,15831526,15666845,15388788,12959982,12909592,12867597,12679484,12615657,12606287,12530967,12530677,12477932,11733512,11724781,10851229,9373149,17848411,18671946,20826533,19497978,19581290,19597127,19628789,19649254,9566909,14988427,9593712,19760754,20694014,11889139 2314194 2627 NM_005257,AC091588,CH471088,EF444980,AK223547,BC027891,CR591851,D87811,U66075,W19304,X95701 NP_005248,EAX01137,ACA05995,BAD97267,AAH27891,BAA22621,AAC50941,CAA64997,Q05CA6,Q53EU2,Q92908 Hs.514746 GATA-binding factor 6|GATA-binding protein 6|transcription factor GATA-6 protein-coding 1605644 GATAD1 GATA zinc finger domain containing 1 20546612,18391951,15146197,14702039,12690205,12477932,12062807 57798 NM_021167,AC000064,AC007566,CH236949,CH471091,AB073650,AK026142,AK098014,AK315788,AL120665,BC019350,BC031091,BQ682550,BX106375,CA848794,CK003484,CN264754,CN406304,CR622609 NP_066990,AAB46345,EAL24150,EAW76848,EAW76849,EAW76850,EAW76851,BAB15374,BAG38134,AAH19350,AAH31091,Q8WUU5 Hs.21145,Hs.721776 FLJ22489|FLJ40695|ODAG|RG083M05.2 GATA zinc finger domain-containing protein 1|ocular development associated|ocular development-associated gene protein protein-coding 1603219 GATAD2A GATA zinc finger domain containing 2A 12183469,18029348,16964243,16344560,14702039,12477932,9373149,8125298,15489334,16169070,16415179,20201926 54815 NM_017660,AC003030,AC011448,AC092067,CH471106,AK000092,AK024670,AK125974,AK225198,AK296781,AK303482,AK315416,AL390164,AY186731,BC009034,BC011684,BC012902,BG773264,BU632713,DB123918 NP_060130,EAW84819,EAW84820,EAW84821,EAW84822,EAW84823,BAA90939,BAG59359,BAG64518,CAB99095,AAO31797,AAH11684,AAH12902,Q86YP4,ABZ92025 Hs.118964 FLJ20085|FLJ21017|p66alpha GATA zinc finger domain-containing protein 2A|OTTHUMP00000201911|OTTHUMP00000201912|hp66alpha|p66 alpha|transcriptional repressor p66-alpha protein-coding 1606527 GATAD2B GATA zinc finger domain containing 2B 16415179,18505370,16964243,16710414,16344560,15489334,15302935,15231748,14702039,12477932,12183469,11756549,10574461,18029348,20185820 57459 NM_020699,AL358472,AL513523,AL592152,AL831737,CH471121,AB032976,AF411836,AI701819,AK094665,BC069419,BC112052,BC112080,DA161156 NP_065750,CAH71425,EAW53270,BAA86464,AAL39080,BAG52906,AAH69419,AAI12053,AAI12081,Q8WXI9,ABZ92028 Hs.4779,Hs.596854 FLJ37346|KIAA1150|MGC138257|MGC138285|P66beta|RP11-216N14.6 GATA zinc finger domain-containing protein 2B|p66/p68|transcription repressor p66 beta component of the MeCP1 complex|transcriptional repressor p66-beta protein-coding 1606925 GATC glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) 16541075,15489334,14702039,12477932,19805282,20877624 283459 NM_176818,AL021546,CH471054,AK094319,BC034962,BC047778,BC064523,BC107145,BC107146,CR611665,CR612638,NR_033684 NP_789788,CAA16496,EAW98193,BAG52859,AAI07146,AAI07147,O43716 Hs.369624 15E1.2|FLJ37000|MGC129938 gatC-like protein protein-coding 731936 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq] 1599823,1300048,1599822,1580863,70746 20877624,9218780,19430482,17101918,16820567,16769397,16614068,15978539,15489334,14702039,12709373,12701824,12477932,12468279,12324495,11555793,9915841,9373149,9266688,9165070,9148748,8313955,8125298,3800397,10893433,20682460,20383146 1599823,1599822,70746 2628 NM_001482,NG_011674,AC025580,CH471082,AK098055,AK098393,AK223585,AK294995,AK298350,BC004141,CD365153,CR601436,CR622786,DB457418,S68805 NP_001473,EAW77306,EAW77307,EAW77308,BAD97305,BAG58060,BAG60595,AAH04141,AAB29892,P50440 Hs.75335 AGAT|AT L-arginine:glycine amidinotransferase|glycine amidinotransferase, mitochondrial|transamidinase protein-coding 1605219 GATS GATS, stromal antigen 3 opposite strand 16344560,14702039,12690205,12477932 352954 NR_028038,NR_028039,NR_028040,AC005071,CH236956,CH471091,CS300729,AK055399,AK056608,AK091418,NM_178831,AK092358,AK095056,AK124689,AK290039,AK290237,AK290510,AL831967,BC033723,BC044886,BC053367,BC065200,BC090867,BC100778,BC100779,BC100780,BC100781,BX420354,CR749506,DA737015,H18847,AC073842 NP_849153,EAL23844,EAL23845,EAW76562,EAW76563,EAW76564,EAW76565,CAK32393,BAB70916,BAG52355,BAC03870,BAG54069,BAF82728,BAF82926,BAF83199,AAH33723,AAH44886,AAH53367,AAH65200,AAH90867,CAH18327,Q8NAP1,Q96NI1 Hs.556063,Hs.727656 DKFZp686B07267|STAG3OS OTTHUMP00000207678|STAG3 opposite strand transcript protein|opposite strand transcription unit to STAG3|putative protein GATS|stromal antigen 3 opposite strand protein-coding 2306474 GATSL1 GATS protein-like 1 12853948 389523 NM_001145063,AC004166,AC124781,DN831815,DR731193 NP_001138535,A6NNH0 Hs.647048 GATS-like protein 1 protein-coding 2306471 GATSL2 GATS protein-like 2 12853948,12477932,9847074 729438 NM_001145064,AC004878,AC118138,BC147030,BC147031,BC150658,DN831814 NP_001138536,AAI47031,AAI47032,AAI50659,A6NHX0 Hs.647048,Hs.647505 GATS-like protein 2 protein-coding 2306475 GATSL3 GATS protein-like 3 16344560,15998911,15790807,15489334,15461802,14702039,12477932,10591208 652968 NM_001037666,AC004997,CH471095,AK055587,AK309436,AK310246,BC021927,CR456449,CR605245,CR620391,CR622635,CR623421,DA343534 NP_001032755,EAW59867,EAW59868,EAW59869,EAW59870,BAB70963,AAH21927,CAG30335,Q8WTX7,CAK54431,CAK54730 Hs.444950 GATS-like protein 3 protein-coding 1607089 GBA glucosidase, beta; acid (includes glucosylceramidase) This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 17996473,19425057,19458969,19459886,19527940,19578116,19846850,19882201,19945510,20004703,20053430,20148966,20182943,20223112,20528910,20177787,20425034,20947659,21087600,20131388,20580583,18022370,19433657,19433656,19394250,19383421,19332698,19286695,19260119,19224617,18987351,18979180,18852351,18829375,18674488,18619939,18586596,18586535,18562733,18541113,18434642,18429048,18338393,18332251,18313951,18264947,18178337,18160183,18078074,18074383,18030725,17875915,17713797,17703984,17702778,17689991,17620502,17574891,17462935,17427031,17187079,16996765,16981045,16861620,16830265,16790605,16781064,16476943,16344560,16329099,16148263,16086325,7627184,7613473,6885065,6816512,6455062,6091633,4003396,3864160,3863141,3687939,3547401,3472750,3456607,3359914,3353383,3001061,2914709,2295698,1974409,1972019,1899336,1698821,1594045,15982918,15967693,15954102,15857183,15610510,15591280,15525722,15517592,15517591,15489334,15322500,15146461,14994233,14757764,14728994,12972024,12803123,12792654,12754519,12667141,12587096,12482401,12477932,12434014,12360744,12360742,12359135,12173027,12107439,12048121,11933202,11708865,11584048,10744424,10649495,10527671,10447266,10360404,10352942,10340647,10079102,9851895,9705233,9683600,9650766,9637431,9554746,9554454,9516376,9331372,9279145,9225972,9217217,9182788,9153297,9061570,9040001,8937765,8907609,8889591,8889578,8829663,8829654,8790604,8780099,8694790,8432537,8294033,8188616,8118460,8112750,8076951,7916532,7627192,1572652,16223608,19913121,20628086,20729108,20816920 2629 M18917,M20248,M20282,AK291911,AK295259,AK298900,AK300186,AK300829,AK300876,AK301374,AK301879,AK302000,AK311242,AK312502,AL547558,AU122729,AU131071,AU140959,AU141794,BC003356,BI458641,BX382279,BX477204,BX648487,CR596605,CR609535,CR610547,CR616044,CR618224,D13286,K02920,M16328,M19285,NM_001005742,NM_000157,NG_009783,AF023268,AL713999,CH471121,J03059,M18916,NM_001005741,DC297079,NM_001171811,NM_001171812,AC217785 AAA35879,AAA35874,AAA35875,AAA35876,BAF84600,BAG58248,BAH12898,BAH13232,BAH13357,BAH13365,BAH13467,BAH13574,BAH13605,BAG35404,AAH03356,BAA02545,AAA35877,AAA35873,AAA35880,AAA35878,NP_001005741,NP_001005742,NP_000148,AAC51820,CAI95090,EAW53100,EAW53101,EAW53102,EAW53103,AAC63056,NP_001165282,NP_001165283,P04062,Q9UQU9 Hs.719930,Hs.282997 GBA1|GCB|GLUC D-glucosyl-N-acylsphingosine glucohydrolase|acid beta-glucosidase|alglucerase|beta-glucocerebrosidase|glucosylceramidase|imiglucerase|lysosomal glucocerebrosidase protein-coding 1313721 GBA2 glucosidase, beta (bile acid) 2 This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq] 1580863 20427274,11489889,17105727,15489334,15164053,14702039,12477932,10997877,9111029,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,12560567,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,18829375,19933215 57704 NM_020944,AL133410,CH471071,AB046825,AF258662,AJ309567,AK027884,AK057610,AK297435,AL834306,BC011363,AK295967 NP_065995,CAI10981,CAI10982,CAI10983,EAW58345,EAW58346,EAW58347,EAW58348,EAW58349,BAB13431,AAG44660,CAC83792,BAB55430,BAG59862,CAD38976,AAH11363,Q9HCG7,BAH12232 Hs.443134 AD035|DKFZp762K054|KIAA1605|MGC16895 NLGase|beta-glucocerebrosidase 2|beta-glucosidase 2|bile acid beta-glucosidase|glucosylceramidase 2|non-lysosomal glucosylceramidase protein-coding 1319930 GBA3 glucosidase, beta, acid 3 (cytosolic) GBA3, or cytosolic beta-glucosidase (EC 3.2.1.21), is a predominantly liver enzyme that efficiently hydrolyzes beta-D-glucoside and beta-D-galactoside, but not any known physiologic beta-glycoside, suggesting that it may be involved in detoxification of plant glycosides (de Graaf et al., 2001 [PubMed 11389701]). GBA3 also has significant neutral glycosylceramidase activity (EC 3.2.1.62), suggesting that it may be involved in a nonlysosomal catabolic pathway of glucosylceramide metabolism (Hayashi et al., 2007 [PubMed 17595169]).[supplied by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s.653107 CBGL1|GLUC|KLrP|MGC104276|MGC126878 OTTHUMP00000218214|OTTHUMP00000218216|cytosolic beta-glucosidase|cytosolic beta-glucosidase-like protein 1|klotho-related protein protein-coding 1353690 GBAP glucosidase, beta; acid, pseudogene 16344560,14702039,12477932,12180141,11381033,9331372,8751878,8294033,2914709,2295698,1698821,1572652 2630 AF023268,NR_002188,AF267177,AL713999,J03060,AK090514,BC000349,BC030240,BC062626,BC092482,CR606706,D13287,DB192327,AK297653,AC217785 BAG60020,CAI95088 Hs.719930 GBAP|MGC104662|MGC40022|MGC8614 pseudo 1345241 GBAS glioblastoma amplified sequence Chromosomal region 7p12, which contains GBAS, is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor.The predicted 286-amino acid protein contains a signal peptide, a transmembrane domain, and 2 tyrosine phosphorylation sites. The GBAS transcript is expressed most abundantly in heart and skeletal muscle. GBAS protein might be involved in vesicular transport. [provided by RefSeq] 1580863 20888800,9615231,19169841,16381901,15489336,15489334,14702039,12477932,11076863,9661659,11256614,19615732,20562859,20877624 2631 NM_001483,AC092579,CH471140,AF029786,AJ001259,AK097049,AK125036,AK315648,BC000732,BC001837,BC030821,BT007112,CR407612,CR614934 NP_001474,EAX07966,EAX07967,AAC29002,CAA04633,AAH00732,AAH01837,AAH30821,AAP35776,CAG28540,O75323,CAL37716,ABM83235,ABM86434 Hs.591069 NIPSNAP2 OTTHUMP00000209309|glioblastoma-amplified sequence|protein NipSnap homolog 2 protein-coding 1320598 GBE1 glucan (1,4-alpha-), branching enzyme 1 The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq] 1642743,1580863,1601279 19913121,20628086,18289670,17994551,17915577,16254601,15592455,15489334,15452297,15019703,14702039,14557872,12477932,10762170,10545044,10533307,10384399,9851430,8463281,6220706,16169070,20379614,8613547,8059607,20300197,20800603,20816195 1642743,1601279 2632 NM_000158,NG_011810,AC017015,AC025029,AC099049,CH471110,AB209731,AK125918,AK297939,AK300620,AK312245,BC012098,BE614098,BM509929,BQ022720,BQ632568,L07956 NP_000149,EAW68879,EAW68880,BAD92968,BAG54265,BAG60255,BAG62313,AAH12098,AAA58642,Q04446,Q59ET0,ABW03793 Hs.436062 GBE 1,4-alpha-glucan-branching enzyme|OTTHUMP00000213833|amylo-(1,4 to 1,6) transglucosidase|amylo-(1,4 to 1,6) transglycosylase|brancher enzyme|glycogen branching enzyme|glycogen-branching enzyme 2315897 GLUCO187_H protein-coding 1316187 GBF1 golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1 1580863 10402461,17353931,16956762,11031247,19023417,18799457,18551169,18524849,18287014,18084281,18063581,18003980,17956946,17666033,17429068,17329336,17079330,16926190,16565220,16318580,15813748,15616190,15489334,15324660,15302935,15164054,12646181,12634853,12477932,12168954,12047556,9828135,9039502,11252894,16385451,19039328,19740986,19773279,19906930,20164217,20175751,20379614,20854417,20530568,20562859,19913121,20628086,16344560,20497182,20504936 8729 NM_004193,AL121928,AL160011,AL356420,CH471066,AF068755,AK024916,AK025153,AK025330,BC007941,BC014171,BC032543,BC094763,BC117681,BC117682,D87435,AI859700,DA176540,DA772398,NM_001199378,NM_001199379 NP_004184,CAI12515,CAH71625,CAH72761,EAW49707,AAD15903,AAH07941,AAH14171,AAH32543,AAH94763,AAI17682,AAI17683,BAA13379,Q05BW6,Q149P0,Q149P1,Q504U7,Q92538,NP_001186307,NP_001186308 Hs.290243 ARF1GEF|FLJ21263|FLJ21500|KIAA0248|MGC134877|MGC134878 BFA-resistant GEF 1|Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1|golgi-specific brefeldin A resistance factor 1|golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1|golgi-specific brefeldin A-resistance factor 1 protein-coding 1351614 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 This gene encodes a member of the histo-blood group ABO gene family that encodes glycosyltransferases with related but distinct substrate specificity. This protein plays a role in synthesizing Forssman glycolipid (FG), a member of the globoseries glycolipid family. Human cells do not normally produce FG but produce the precursor glycolipids globotriaosylceramide and globoside. This protein may be involved in the tropism and binding of pathogenic organisms. [provided by RefSeq] 1580863 10506200,15489334,15164053,14702039,12975309,12477932,12107410,8855242,20800603 26301 AK314097,AY358175,BC032499,CA397865,CR622726,AK307687,NM_021996,AL162417,CH471090,DQ145941,AK074639,AK074944,AK291498,AK303825 BAG36792,AAQ88542,AAH32499,Q8N5D6,NP_068836,CAI13418,CAI13419,CAI13420,CAI13421,EAW88043,EAW88044,EAW88045,EAW88046,EAW88047,AAZ38721,BAC11106,BAF84187,BAH14061 Hs.495419 A3GALNT|FS|MGC44848|RP11-326L24.6|UNQ2513 Forssman glycolipid synthetase (FS)|Forssman synthetase|forssman glycolipid synthase-like protein|globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 protein-coding 1323562 GBP1 guanylate binding protein 1, interferon-inducible, 67kDa Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq] 1580863 20450919,20454519,20923658,16712791,1715024,19463820,19150356,19079332,18697840,18697200,18260761,16936281,16894355,16873363,16511497,16005050,15937107,15504415,15489334,14741045,12881412,12766061,12543931,12488461,12477932,12414522,11598000,11397834,10676968,10383748,8830800,7518790,19223260,19604093,20237496,20483731 2633 AL160008,CH471097,AB208912,AK291783,AK298032,NM_002053,AK303893,AY920436,BC002666,BF058809,BT006847,CB164272,CD676970,CR591787,M55542 NP_002044,CAI22972,EAW73148,EAW73149,EAW73150,BAD92149,BAF84472,BAG60334,BAG64827,AAX13805,AAH02666,AAP35493,AAA35871,P32455,Q59H47,Q5D1D5,ABM81685,ABM84850 Hs.62661 GBP-1|GTP-binding protein 1|guanine nucleotide-binding protein 1|huGBP-1|interferon-induced guanylate-binding protein 1 protein-coding 736152 GBP2 guanylate binding protein 2, interferon-inducible Interferons are cytokines that have antiviral effects and inhibit tumor cell proliferation. They induce a large number of genes in their target cells, including those coding for the guanylate-binding proteins (GBPs). GBPs are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP). The protein encoded by this gene is a GTPase that converts GTP to GDP and GMP. [provided by RefSeq] 1580863 19912588,20923658,1715024,19003964,17517895,14702039,12477932,12447867,12107410,11096456,9373149,8723115,8706832,8125298,16169070,20237496 2634 NM_004120,AC104459,CH471097,AI400402,AK002150,AK057968,AK122866,AK226018,AK314325,BC022272,BC073163,CA390345,CR457062,CR599314,M55543 NP_004111,EAW73146,BAG36973,AAH22272,AAH73163,CAG33343,AAA67323,P32456,Q8TCE5 Hs.386567 GBP-2|GTP-binding protein 2|guanine nucleotide-binding protein 2|huGBP-2|interferon-induced guanylate-binding protein 2 protein-coding 1349801 GBP3 guanylate binding protein 3 This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. [provided by RefSeq] 16710414,15489334,14702039,12477932,12387898,8889548,7518790,20237496 2635 NM_018284,AL139416,AL160008,CH471097,AK001823,AK309096,AL136680,BC017992,BC063819,BC140837,BC144650,BU678920,CR609615,CR936755,CR936758 NP_060754,CAI21697,CAI21698,CAM28262,CAI22970,CAI22971,CAM28327,EAW73151,EAW73152,EAW73153,CAB66615,AAH17992,AAI40838,Q5T8L7,Q9H0R5,ACE87619,ACE87626,ACE86932,ACE86938,Q5T8M0 Hs.720167 DKFZp686E0974|DKFZp686L15228|FLJ10961 GBP-3|GTP-binding protein 3|OTTHUMP00000012353|OTTHUMP00000012355|guanine nucleotide-binding protein 3|guanylate-binding protein 3 protein-coding 1321567 GBP4 guanylate binding protein 4 Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM] 1580863 16108726,12477932,9659399,16689661,20237496,20379614 115361 NM_052941,AC104459,CH471097,AF288814,AK131094,AK304245,AK312417,AL832576,BC008421,BC017889,BC050625,BC070055,CA309701 NP_443173,EAW73142,EAW73143,EAW73144,AAL02054,BAC85144,BAG65113,BAG35327,CAD89936,AAH17889,AAH70055,Q96PP9 Hs.409925 Mpa2 GBP-4|GTP-binding protein 4|guanine nucleotide-binding protein 4|guanylate-binding protein 4 protein-coding 1322285 GBP5 guanylate binding protein 5 1580863 18260761,17266443,16189514,15489334,15175044,14996095,12975309,12477932,20180847,20237496 115362 CD367361,NM_052942,NM_001134486,AC099063,CH471097,AF288815,AF328727,AF430642,AF430643,AK090479,AK315064,AL832285,AY358953,BC031639,BC033761 Q86TM5,Q8N4Q4,Q8NF03,Q96PP8,ABM86576,ABW03667,NP_443174,NP_001127958,EAW73141,AAL02055,AAO40731,AAN39035,AAN39036,BAC03460,BAG37538,AAQ89312,AAH31639,AAH33761 Hs.513726 GBP-5 GBP-TA antigen|GTP-binding protein 5|OTTHUMP00000011818|guanine nucleotide-binding protein 5|guanylate-binding protein 5 protein-coding 1354251 GBP6 guanylate binding protein family, member 6 12477932,16689661,20237496,20423481,16381901,16344560,15489336,14702039,11256614,11230166,11076863 163351 NM_198460,AL691464,CH471097,AI199897,AK096454,AK131329,AK131356,AK290303,AK299408,AK299466,AK303987,AK315834,BC131713,BX537949,BX647907,DA437660,DA447005 NP_940862,CAI22141,EAW73139,BAD18489,BAD18509,BAF82992,BAG61390,BAG61432,BAG64904,BAF98725,AAI31714,CAD97917,Q6ZN66,CAL37463,AAI46700 Hs.254338 DKFZp686G0786|FLJ39135 GBP-6|GTP-binding protein 6|guanine nucleotide-binding protein 6|guanylate-binding protein 6 protein-coding 1601687 GBP7 guanylate binding protein 7 Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM] 16689661,14702039,20459687 388646 NM_207398,AC104459,CH471097,AK096141 NP_997281,EAW73145,BAC04709,Q8N8V2,AAI56124,AAI57016 Hs.591450 FLJ38822|GBP4L GBP-7|GTP-binding protein 7|guanine nucleotide-binding protein 7|guanylate-binding protein 4-like|guanylate-binding protein 7 protein-coding 1352199 GBX1 gastrulation brain homeobox 1 1580863 16597639,12853948,8097731,7903253 2636 NM_001098834,AC010973,L11239,X59519 NP_001092304,AAA36002,Q14549,AAI60003 Hs.647114 gastrulation and brain-specific homeobox protein 1|gastrulation brain homeo box 1|homeobox protein GBX-1 protein-coding 1348762 GBX2 gastrulation brain homeobox 2 1334477,1334478,1580863 12477932,20237496,9346236,8838315,17060451,15931389,15815621,10690529,9537237,7903253 1334477,1334478 2637 NM_001485,AC079135,CH471063,U02080,U31468,AF118452,BC137448,BC137449,BF115559 NP_001476,AAX93240,EAW71084,AAA17406,AAC03241,AAD39907,AAI37449,AAI37450,P52951 Hs.184945 gastrulation and brain-specific homeobox protein 2|gastrulation brain homeo box 2|homeobox protein GBX-2 protein-coding 736902 GC group-specific component (vitamin D binding protein) The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. [provided by RefSeq] 2315537,2315540,2315548,2315558,1331525,1580863 19913121,20536507,20588308,20628086,20654748,20812960,20819447,18038108,19170196,19625176,19692168,19729601,19852851,20079467,20086113,20418485,20424473,20541252,9821970,19797128,15583024,15951480,20733087,20809279,20847308,20363324,12119014,1696927,14718574,19559392,19479237,19453261,19302999,19263529,19255064,19131662,19116321,18807170,18768522,18686987,18676680,18593774,18559548,18374965,18334925,18303991,8381387,8325650,8324227,8125298,7759070,7725672,7703225,7606167,7505619,7026425,4054306,3936035,3552627,3015768,2958390,2824652,2423133,2416779,2415977,2415926,1602151,1535333,1374401,1352271,558959,218624,16169070,18029348,17785430,17763400,17763397,17763387,17428459,17342072,17244366,17113648,16684836,16648359,16600026,16400520,16309986,16269129,16115686,15866120,15717311,15648851,15607028,15485893,15230135,15115254,15059409,14987123,14718422,14523999,12968673,12947140,12942785,12938159,12580408,12554937,12477932,12452439,12189808,12062854,12051678,12050214,12048248,11799400,11785295,11757623,11717447,11436564,9373149,8786133,8495753 2315537,2315540,2315548,2315558,1331525 2638 CR615579,NG_012837,AC024722,CH471057,L10641,M17156,S54074,S67480,S77129,S77130,AK223458,AK290827,AK298433,AK309595,AK312971,AK315853,BC022310,BC057228,CR589987,CR591437,CR591786,CR592599,CR593132,CR597042,CR598362,CR598387,CR599900,CR600650,CR600738,CR601461,CR602970,CR604515,CR605798,CR606955,CR611556,CR612125,CR615226,CR615455,NM_000583,CR618111,CR622285,CR623633,CR624576,CR625283,CR625359,CR626806,M12654,X03178 NP_000574,EAX05645,AAA61704,AAA19662,AAD13872,AAB29423,AAD14249,AAD14250,BAD97178,BAF83516,BAG60654,BAF98744,AAH57228,AAA52173,CAA26938,P02774,Q6LDC6 Hs.418497 DBP|DBP/GC|GRD3|VDBG|VDBP OTTHUMP00000218973|OTTHUMP00000218974|OTTHUMP00000218975|VDB|gc-globulin|vitamin D-binding alpha-globulin|vitamin D-binding protein protein-coding 1315291 GCA grancalcin, EF-hand calcium binding protein This gene product, grancalcin, is a calcium-binding protein abundant in neutrophils and macrophages. It belongs to the penta-EF-hand subfamily of proteins which includes sorcin, calpain, and ALG-2. Grancalcin localization is dependent upon calcium and magnesium. In the absence of divalent cation, grancalcin localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions, suggesting a role for grancalcin in granule-membrane fusion and degranulation. [provided by RefSeq] 1580863 1530588,19156166,18285833,18071670,16713569,15815621,15489334,12804766,12477932,11717497,11279160,10903868,9441591,1737748,17207965,18029348,20800603,20237496 25801 NM_012198,AC010876,CH471058,AB209768,AK295413,AK312349,BC005214,BQ005142,CR616777,M81637 NP_036330,AAX93138,EAX11350,EAX11351,BAD93005,BAH12058,BAG35270,AAH05214,AAA58498,P28676,ADQ32845 Hs.377894 GCL OTTHUMP00000204639|OTTHUMP00000204640|grancalcin|grancalcin, EF-hand calcium-binding protein|grancalcin, penta-EF-hand protein protein-coding 1316396 GCAT glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase) The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. [provided by RefSeq] 1580863 10712613,15489334,12477932,12174908,10591208,3536927,15342556,20877624 23464 NM_014291,CH471095,Z97630,AF077740,AK123190,AK290093,BC014457,CR603831,BP309052,NM_001171690 NP_055106,EAW60189,EAW60190,CAB42830,AAC27720,BAC85552,BAF82782,AAH14457,O75600,Q6ZWF1,NP_001165161 Hs.54609 KBL|MGC23053 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial|2-amino-3-ketobutyrate-CoA ligase|AKB ligase|OTTHUMP00000198189|aminoacetone synthase|glycine acetyltransferase protein-coding 1342777 GCATP glycine C-acetyltransferase pseudogene 319140 NG_002517,AL136038 GCATP pseudo 1352654 GCC1 GRIP and coiled-coil domain containing 1 The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq] 1580863 18029348,16189514,17914056,16713569,15654769,15489334,14702039,12690205,12477932,12446665,10209125,12972563 79571 NM_024523,AC000357,CH236947,CH471070,AF525417,AK025688,AK315472,AL832833,BC008902,BC014100,BC078665,AK092878 NP_078799,EAL24321,EAW83628,EAW83629,AAM91948,BAB15218,BAG52618,BAG37858,AAH08902,AAH14100,AAH78665,Q96CN9 Hs.521168 FLJ22035|GCC1P|GCC88|MGC20706 GRIP and coiled-coil domain-containing protein 1|golgi coiled-coil 1|golgi coiled-coil protein 1|peripheral membrane Golgi protein protein-coding 1605713 GCC2 GRIP and coiled-coil domain containing 2 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 18243103,18946081,17488291,16964243,16885419,16344560,15815621,15654769,15522892,15489334,14702039,12477932,12446665,12200376,11149944,10508479,9205841,8889548,12972563,19615732,19703403,17543864 9648 NM_181453,NR_028063,AC012487,AC068941,CH471182,AA171957,AB002334,AF273042,AF432211,AI084646,AK090813,AK308707,BC020645,BC037774,BC146789,BM694019,DA865539 NP_852118,AAX88838,EAW53882,EAW53883,EAW53884,BAA20794,AAG34902,AAL99918,BAG52233,AAH20645,AAH37774,AAI46790,Q8IWJ2 Hs.436505,Hs.469630 GCC185|KIAA0336|RANBP2L4|REN53 185 kDa Golgi coiled-coil protein|CLL-associated antigen KW-11|CTCL tumor antigen se1-1|GCC protein, 185-kD|GRIP and coiled-coil domain-containing protein 2|Golgi coiled-coil protein GCC185|Ran-binding protein 2-like 4|renal carcinoma antigen NY-REN-53 protein-coding 1318826 GCDH glutaryl-Coenzyme A dehydrogenase The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 19913121,20514322,20628086,20877624,20732827,8541831,17474147,18775954,17661081,17176108,16368216,16344560,15985591,15489334,15274622,15057824,12477932,11705404,10985795,10960496,10699052,9711871,9600243,8900228,8900227,8088809,7795610,7490088,3081514,1438360,19862010,20032085 2639 NM_013976,NG_009292,AD000092,AF012342,CH471106,AK098370,AK290407,AK296446,AK298772,AK300841,AK309892,AU135567,BC002579,NM_000159,BT006706,CR591108,CR593626,CR599782,CR600877,CR610003,CR612140,CR615192,CR618805,CR621071,CR622862,CR623936,CR626122,S77773,U69141 NP_000150,NP_039663,AAB51174,AAC52079,EAW84324,EAW84325,EAW84326,BAF83096,BAG59097,BAG60914,BAG62492,AAH02579,AAP35352,AAB34724,AAB08455,Q36741,Q92947 Hs.532699 ACAD5|GCD glutaryl-CoA dehydrogenase, mitochondrial|glutaryl-Coenzyme A dehydrogenase protein-coding 1343482 GCET2 germinal center expressed transcript 2 This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 18029348,18264083,17823310,15677569,15591113,15489334,14702039,12819018,12509382,12477932,17207965,20697248,15342556,16344560,19883310 257144 NM_152785,AC128688,CH471052,AA237025,AF521911,AK125521,AK313368,AW576133,AY212246,BC030506,BX280641,CR625820,BM456595,BP224611,DA455714,NM_001190259,NM_001190260 NP_689998,EAW79680,AAO21701,BAG36167,AAO22147,AAH30506,Q8N6F7,ADQ31706,NP_001177188,NP_001177189 Hs.49614 GCAT2|HGAL|MGC40441 OTTHUMP00000214474|OTTHUMP00000214477|OTTHUMP00000214479|OTTHUMP00000214480|germinal center B-cell-expressed transcript 2 protein|germinal center-associated lymphoma protein protein-coding 1345642 GCF1 growth control factor 1 2640 68970 GCG glucagon The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. [provided by RefSeq] 2315015,2313224,1580863 19913121,20470376,20628086,20682687,18240029,18413175,18499738,18534636,18575785,18596108,18695009,18770489,19051206,19229515,19351867,19556358,19631991,19664300,19703531,19737911,19819966,19837920,19881250,19936703,19948975,20001917,20008019,20100914,20188316,20194524,20305008,19808921,20040695,16754659,18577758,20460948,19924023,12036966,20580750,8538742,12626323,7929237,19077438,18996102,18832087,18760331,18298441,18223636,18198306,18180317,18080106,17944883,17901057,17846745,17724330,17688385,17611265,17609256,17344652,17324423,17290009,17164779,17160672,17141269,16988001,16828127,16787987,16736556,16563563,16401467,16362283,16202636,16201096,16153418,16142014,16132964,16131602,16125528,15983224,15899957,15897480,15821104,15815621,15671479,15664668,15616022,15533774,15489334,15289644,15111524,15002062,14988249,14719035,14632334,9990065,10861272,14608103,14557443,14522730,14517773,12960095,12810581,12736145,12651102,12627948,12554744,12540594,12524435,12519856,12477932,12459036,12436337,12387900,12174892,11972291,11961492,11946536,11943215,11738243,11375130,11278902,11116211,10990079,10605628,10322410,9667960,9287128,8482423,8382034,7340337,6877358,6546710,3725587,3569278,2901414,2753890,20816021 2315015,2313224 2641 BG654603,BM272442,NM_002054,AC007750,CH471058,V01515,X03991,X05387,AI818268,BC005278,BT006813,J04040,X05388 NP_002045,AAY24204,EAX11356,EAX11357,EAX11358,CAA24759,CAA27627,AAH05278,AAP35459,AAA52567,P01275,ABM83447,ABM86658 Hs.516494 GLP1|GLP2|GRPP glicentin-related polypeptide|glucagon|glucagon-like peptide 1|glucagon-like peptide 2 protein-coding 69010 GCGR glucagon receptor The physiologic effects of glucagon (GCG; MIM 138030) are mediated through the glucagon receptor, a member of the superfamily of receptors characterized by a 7-transmembrane domain structure and by their coupling via GTP-binding proteins (G proteins) to adenyl cyclase.[supplied by OMIM] 1625210,2315004,704404,1580863,1625208 19051206,8144028,7773293,12626323,8563746,20647307,12036966,17374560,15489334,12724331,12536714,12477932,11961492,11707539,11692154,9105899,8382034,8020989,7589886,7507321,6303843,1908089,165216,15188402,18240029,19578796,19903011 1625210,2315004,1625208 2642 AC145207,AC174470,CH471099,L24751,AK314247,BC104854,BC112041,L20316,U03469,NM_000160,AJ245489,AK307234,BJ997148,NG_016409 EAW89684,AAA35897,AAI04855,AAI12042,AAA53628,AAC52063,P47871,NP_000151,CAB52383 Hs.208 FLJ97182|GGR|MGC138246 GL-R|glucagon receptor 2289501,2289511,2315441,2315444,2316339 BW444_H,BW453_H,INSUL42_H,GLUCO140_H,GLUCO234_H protein-coding 1345739 GCH1 GTP cyclohydrolase 1 This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq] 1580863,1601280,1601281 17044972,20437540,20108370,20418482,3753653,14717702,16778797,9092499,16696853,1669853,11087823,2463916,16338639,7874165,9445252,12176133,15721862,17717598,7678411,12607127,15604419,17101830,10907721,3318829,19515581,19491146,19442649,19332422,19294699,19292934,19195260,19104007,19101819,19081190,19014702,19011239,18824773,18752196,18598896,18554280,18515178,18410856,18374612,18358407,18276179,18202219,18044725,17898029,17804835,17655760,17557242,17410324,17407085,17363416,17343757,17111153,16643317,16267845,16149046,15909293,15852365,15753436,15679701,15489334,15303002,14551046,12925450,12821132,12477932,12391354,12084887,11956954,11937441,11580249,11486899,11359069,11284739,11113234,11087827,10987649,10825351,10732814,10582612,10208576,10078749,10076897,9667588,9576537,9222755,8957022,8889548,8852666,8695054,8666288,8298648,8068008,7802677,7730309,7501255,1520321,1482676,8702680,9778264,19566901,19913121,20581851,20628086,20633294,19533203,19573577,19615732,19674121,19735094,19775452,19851158,19926872,19959292,20187889,18029348,20838263,20842020,21037510 1601280,1601281 2643 NM_000161,NM_001024071,NM_001024070,NM_001024024,NG_008647,AL133444,AL160471,CH471061,D38602,D38603,L29478,U19259,Z30952,AF321276,AY137463,AY137464,AY137465,BC025415,BM971258,CR536551,CR589979,S43856,S44049,S44053,U19523,U66095,U66097,Z16418,Z29433,Z29434 NP_000152,NP_001019242,NP_001019241,NP_001019195,EAW80647,EAW80648,EAW80649,EAW80650,EAW80651,EAW80652,EAW80653,AAB42186,AAB60633,CAA83213,AAK51704,AAN17459,AAN17460,AAN17461,AAH25415,CAG38788,AAB23166,AAB23164,AAB23165,AAB16861,AAD38866,AAD38868,CAB77391,CAB77392,P30793,Q8IZH7,Q8IZH8,Q8IZH9,Q96T74,ABM83924,ABM87244,CAA78908 Hs.86724,Hs.624900 DYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B GTP cyclohydrolase 1|GTP cyclohydrolase I|GTP-CH-I|dystonia 14|guanosine 5'-triphosphate cyclohydrolase I protein-coding 1349515 GCHFR GTP cyclohydrolase I feedback regulator GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq] 728623,1580863 19674121,19926872,20351752,9092499,16696853,8702680,16778797,19101819,18372436,17135716,17101830,15649650,15489334,12607127,12477932,11799107,11580249,9373149,8125298,1286669,19913121,20628086 728623 2644 NM_005258,AC012476,CH471125,U78190,AK223430,AK311872,BC112262,BC112264,BC143904 ADR82786,NP_005249,EAW92442,EAW92443,AAB37337,BAD97150,BAG34813,AAI12263,AAI12265,AAI43905,P30047,Q53F59 Hs.631717 GFRP|HsT16933|MGC138467|MGC138469|P35 GTP cyclohydrolase 1 feedback regulatory protein|GTP cyclohydrolase I feedback regulatory protein protein-coding 735697 GCK glucokinase (hexokinase 4) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq] 1601293,2301873,2301885,2301887,2301883,2301876,2301889,2302851,2302784,2311061,2301863,2302790,1580863,704404,1582633,1581880,1598592,1601292,1601295,1601296,1601294,1581877,1300048 18208578,19169489,19187021,19410318,19411616,19459610,19473033,19515026,19533084,19551638,19564454,19578796,19617908,19643913,19651812,19741163,19741166,19790256,19884385,19934346,19937311,19948975,20015564,20081858,20144192,20164212,20185807,20227404,20337973,20458967,20490451,20132997,20845477,20858683,20889853,21036910,20828143,20587714,8446612,12941786,16173921,8325892,8878425,8132752,10601273,14627435,19368707,19358091,19336674,19282865,19241058,19228875,19150152,19146401,19125755,19096518,19073768,19060907,19018513,19002431,18828733,18811724,18809676,18805788,18672310,18651836,18571549,18556336,18498634,18483479,18450771,18411240,18399931,18397317,18382660,18370929,18332101,18325809,18322640,18298419,18271687,18248649,18196929,18184897,18159847,18039179,18008060,17994217,17976205,17937063,17584736,17573900,17561510,17389332,17327436,17260972,17216282,17186458,17186219,17082186,17070428,16963153,16936201,16752173,16632067,16444761,16378108,16344560,16331569,16186409,15987895,15928245,15918042,15841481,15677518,15677479,15489334,15305805,15277402,15173029,15009676,14747279,14702039,14617577,14578306,14517946,12690205,12627330,12515438,12477932,12442280,12101177,12050210,11914755,11772903,11756407,11522786,11473043,11440371,11112984,11372010,11237213,11106831,10694920,10588527,9662401,9469993,9435328,9270716,9049484,9000692,8626423,8549853,8495817,8454109,8433729,8376578,8194664,8168652,8094164,8094163,1871135,1740342,1740341,1612194,1570017,1545870,1511800,1502186,1464666,1397713,1360036,1354840,1349989,1303265,18588509,19913121,20536962,20628086,20628598,20668700,20682687,20682688,20979768,9570959 1601293,2301873,2301885,2301887,2301883,2301876,2301889,2302851,2302784,2311061,2301863,2302790,1582633,1581880,1598592,1601292,1601295,1601296,1601294,1581877 2645 HB877574,HC934983,CR590130,CR626628,DA640823,EU008605,M69051,M88011,M90299,NM_000162,NM_033507,NM_033508,NG_008847,AC006454,AF041013,AF041014,AF041022,CH236960,CH471128,M90298,AK122876,BC001890,BT007062,CD251038 CBF63115,CBU87991,ABS31137,AAB59563,AAA51824,AAA52562,P35557,Q53Y25,ABM84761,NP_000153,NP_277042,NP_277043,AAB97681,AAB97682,AAB97680,EAL23764,EAL23765,EAL23766,EAW61114,EAW61115,EAW61116,AAA67541,AAA67542,BAG53774,AAH01890,AAP35711 Hs.1270 FGQTL3|GK|GLK|HHF3|HK4|HKIV|HXKP|LGLK|MODY2 ATP:D-hexose 6-phosphotransferase|HK IV|OTTHUMP00000209239|glucokinase|hexokinase D, pancreatic isozyme|hexokinase type IV|hexokinase-4|hexokinase-D protein-coding 69130 GCKR glucokinase (hexokinase 4) regulator This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq] 1626607,1598592,1580863,2315986,2315985,2315983 20570916,20571754,20574426,20625834,20628086,20628598,20657596,20661421,20668700,20679960,20682687,20693352,20802025,20139978,20705733,19760754,20691829,20800603,20879858,20884846,20889853,21036910,21054877,21071687,21072187,20864672,8662230,11522786,10601273,14627435,19148283,19073768,19068216,19060911,19060910,19060906,19056598,18678614,18596051,18556336,18454146,18439548,18193044,18193043,18179892,18008060,17828387,17186219,17082186,16401311,16344560,15815621,12739015,12477932,11756407,11473043,10588736,9570959,9000692,8626423,8589523,7508874,19241058,19247372,19503597,19526250,19533084,19643913,19651812,19656773,19847674,19861489,19890391,19913121,19936222,19937311,20081857,20081858,20160193,20161779,20162742,20162743,20167577,20185807,20352598,20383146,20490451,21102463 1626607,1598592,2315986,2315985,2315983 2646 AC074117,AY320034,CH471053,Y09592,Y09593,Z48476,AK291846,AK298448,AK303784,AK309599,BC130481,BC130483,NM_001486,CD368544,DA011063,Z48475,NG_028024 ADR83072,NP_001477,AAY14850,AAP72013,EAX00568,CAB61828,CAA70779,BAF84535,BAG60664,BAG64742,AAI30482,AAI30484,CAA88367,Q14397 Hs.89771 FGQTL5|GKRP glucokinase (hexokinase 4) regulatory protein|glucokinase regulator|glucokinase regulatory protein|hexokinase 4 protein-coding 736793 GCLC glutamate-cysteine ligase, catalytic subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. The gene encoding the catalytic subunit encodes a protein of 367 amino acids with a calculated molecular weight of 72.773 kDa and maps to chromosome 6. The regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Deficiency of gamma-glutamylcysteine synthetase in human is associated with enzymopathic hemolytic anemia. [provided by RefSeq] 1300048,1302514,1302515,1580863 19567187,24639,9675072,9841880,8104187,11972604,16183645,10439045,2294991,12663448,10395918,12598062,19347979,19041695,18977241,18926903,18614560,18560528,18549827,18420959,18276794,18066575,18035085,17961430,17921251,17643973,17601350,17479437,17344309,17333241,17207022,17109620,16766924,16690975,16599007,16491484,16403949,16322067,15489334,15485876,15451055,14702039,14676828,14574404,12500194,12477932,12070177,11844594,11820781,10733484,10515893,8995480,8825659,7789189,7726839,5058793,1350904,20485444,20615707,20655259,20659789,20689807,20712757,19515364,19578796,19817962,20180881,20200426 1302514,1302515 2729 AB516284,BI550814,NM_001197115,AL531593,NM_001498,NG_012071,AF118846,AL033397,AY780794,CH471081,L39773,AB262176,AK094940,AK304288,AK313480,BC022487,BC039894,BG700922,BG704750,M90656,BC047788 BAJ21361,NP_001184044,NP_001489,AAD18031,AAV31778,EAX04425,EAX04426,AAC41751,BAE97618,BAG65146,BAG36264,AAH22487,AAH39894,AAA58499,P48506,Q14TF0,ACE87574,ACE86887 Hs.654465 GCL|GCS|GLCL|GLCLC GCS heavy chain|gamma-ECS|gamma-glutamylcysteine synthetase|glutamate--cysteine ligase catalytic subunit|glutamate-cysteine ligase catalytic subunit protein-coding 731551 GCLM glutamate-cysteine ligase, modifier subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. [provided by RefSeq] 1300048,1580863 19913121,20485444,20598694,20628086,20712757,19153097,19455074,19578796,19584774,19808663,19896490,20200426,16712791,20061124,9841880,16183645,9675072,17353931,9895302,10395918,12081989,12975258,19420105,19126404,19056482,18991850,18614560,18560528,18449862,18066575,17961430,17924854,17643973,17548779,17344309,17333241,16909399,16766924,16710414,16677451,16599007,16081425,15946948,15489334,15451055,14532974,12477932,10674357,9841137,8978789,8825659,7829101,7826375 2730 NG_012072,AL049796,AL117351,AY382196,AY773965,CH471097,AK290449,BC041809,BE269549,BE866085,BF031933,BF213407,BF219130,BF246042,BF541340,BF541441,BF698337,BG291243,BG547387,BI497338,BM468805,NM_002061,BQ049850,BQ224592,BU600458,C17598,C18245,C18878,C18959,C19097,CB114258,CB128427,CK818048,CR541833,D63311,L35546,R69169 NP_002052,CAI21813,CAI22976,AAR29001,AAV28733,EAW73059,EAW73060,EAW73061,EAW73062,BAF83138,AAH41809,CAG46632,AAA65028,P48507,Q5YKL1 Hs.315562 GLCLR GCS light chain|GSC light chain|gamma-ECS regulatory subunit|gamma-glutamylcysteine synthetase regulatory subunit|glutamate cysteine ligase, modifier subunit|glutamate--cysteine ligase modifier subunit|glutamate--cysteine ligase regulatory subunit|glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD)|glutamate-cysteine ligase regulatory protein protein-coding 1348704 GCM1 glial cells missing homolog 1 (Drosophila) This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq] 1580863 19219068,19321927,19890582,15385555,8962155,19204726,18703417,18160678,17646165,16594548,16528103,16166624,16004993,15640526,15489334,15135239,15081636,14574404,12477932,12397062,11071865,10858268,10542267,20484742 8521 NM_003643,AB041716,AB047819,AL512347,CH471081,AB026493,AB041714,AI219562,AK309881,BC096288,BC096289,D88613 NP_003634,BAA94758,BAB18039,EAX04412,BAA77250,BAA94757,AAH96288,BAA13651,Q9NP62 Hs.28346 GCMA|hGCMa GCM motif protein 1|chorion-specific transcription factor GCMa protein-coding 1322420 GCM2 glial cells missing homolog 2 (Drosophila) This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq] 1598942,1580863 12354132,10343099,19257819,19448621,19940031,20190276,20558332,15863676,15728199,9928992,18712808,18583467,18182452,15657585,15489334,14715818,14574404,12477932,20463099,21164298 1598942 9247 FJ655849,NM_004752,NG_008970,AL024498,AL357497,AF079550,AF091149,AI028145,BC069603,BC117316,BC117318 ACV69998,NP_004743,CAI20518,CAI16225,AAC33792,AAC98097,AAH69603,AAI17317,AAI17319,O75603 Hs.227098 GCMB|hGCMb GCM motif protein 2|chorion-specific transcription factor GCMb|glial cells missing 2|glial cells missing homolog b|glide/gcm protein homolog protein-coding 1312843 GCN1L1 GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1580863 11101529,17643375,19615732,17353931,9234705,16541075,15635413,15489334,12477932,12168954,11790298,9039502,20562859,20936779 10985 BK006575,AC004263,AC004812,CH471054,AK297271,BC021129,BC032335,BC040172,BC046177,BC064346,BC153881,BQ929459,BU186578,CR607697,D86973,U77700,U88836,U88837,NM_006836 AAD00656,Q92616,DAA33878,NP_006827,AAC83183,EAW98167,EAW98168,EAW98169,BAG59744,AAH21129,AAH32335,AAH46177,AAH64346,AAI53882,BAA13209,AAC51648,AAD00655 Hs.298716 GCN1|GCN1L|KIAA0219|PRIC295 GCN1 (general control of amino-acid synthesis 1, yeast)-like 1|GCN1 (general control of amino-acid synthesis, yeast, homolog)-like|GCN1-like protein 1|hsGCN1|peroxisome proliferator activated receptor interacting complex protein|translational activator GCN1 protein-coding 1351431 GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863,632804 1329093,18815556,17947642,17530395,16778138,16344560,16179912,15932919,15926890,15882971,15591039,15483269,15342556,15026421,12765965,12626388,12600830,12477932,9915862,9278427,8449405,7579796,20017138,19267921,19524017,20841351 632804 2650 NM_001097634,NM_001490,NM_001097633,NM_001097635,NM_001097636,AL161626,AL590664,CH471089,L41390,L41415,AI445628,AJ420416,AK313343,AL832647,AY196293,AY196294,AY196296,AY196297,BC074885,BC074886,BC109101,BC109102,BP359964,CR614116,DA479942,M97347,AY196295 NP_001091103,NP_001481,NP_001091102,NP_001091104,NP_001091105,CAI39746,EAW62580,AAA96661,BAG36146,CAD89956,AAH74885,AAH74886,AAI09102,AAI09103,AAA35919,Q02742,Q86T81 Hs.521568 C2GNT|C2GNT-L|C2GNT1|G6NT|MGC126335|MGC126336|NACGT2|NAGCT2 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase|beta-1,6-N-acetylglucosaminyltransferase|core 2 GnT|core 2 beta-1,6-N-acetylglucosaminyltransferase I|core 2 beta1,6 N-acetylglucosaminyltransferase-I|core 2 branching enzyme|core 2-branching enzyme|core2-GlcNAc-transferase|glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) protein-coding 1350573 GCNT1P glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) pseudogene 8748164 170517 NG_001039,AL121893,L42230 GCNT1P|bA189K21.2 pseudo 2881094 GCNT1P2 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 2 100421560 AC108089,NG_021841 pseudo 2880987 GCNT1P3 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 3 100421581 AC008249,NG_022287 pseudo 3051019 GCNT1P4 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 4 100462829 AL354913,NG_022356 pseudo 2880986 GCNT1P5 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 5 100421598 AC004921,NG_022567 pseudo 1607088 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 15161861,14702039,14672974,12477932,12468428,12424189,12244172,15489334,11739194,9915862,9417921,9405606,7579796,2791656,438154,8449405,9134435,17855628,16344560,15882971 2651 NM_145649,NM_001491,NM_145655,NG_007469,AL139039,AL358777,CH471087,L41605,L41607,AB078432,AB078433,AF401652,AF401653,AF458024,AF458025,AF458026,AF458027,AF458028,AF458029,AF458030,AK090483,AK098105,AK291195,AK291767,AK307337,AK307373,AK310216,AK313426,AK313903,AL832714,AL832719,AY435145,AY435146,AY435147,BC074801,BC074802,BC130524,BX503586,BX647576,BX647668,CR624014,DB208581,L19659,Z19550 NP_663624,NP_001482,NP_663630,CAH73010,CAI13997,CAI13999,EAW55259,EAW55260,EAW55261,EAW55262,AAA99832,BAC66781,BAC66782,AAL50561,AAL50562,AAM73864,AAM73865,AAM73866,AAM73867,AAM74524,AAM73869,AAM73870,BAC03464,BAC05234,BAF83884,BAF84456,BAG36218,BAG36626,AAR95646,AAR95647,AAR95648,AAH74801,AAH74802,AAI30525,CAI46081,CAQ52588,CAQ52597,ADR82994,AAA81777,CAA79610,Q06430,Q08M29,Q8N0V5,Q8N7N7,Q8NFS5,Q8NFS6,Q8NFS7,Q8NFS8,Q8NFS9,Q8WXK6,Q8WXK7 Hs.519884 CCAT|GCNT2C|GCNT5|IGNT|II|MGC163396|NACGT1|NAGCT1|ULG3|bA360O19.2|bA421M1.1 I beta-1,6-N-acetylglucosaminyltransferase|I-branching beta-1,6-acetylglucosaminyltransferase|I-branching enzyme|Ii blood group|N-acetylglucosaminyltransferase|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase|beta-1,6-N-acetylglucosaminyltransferase 2 protein-coding 1344597 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins. 1580863 9988682,17303715,16418723,15342556,12600830,12477932,9915862,20816165,17207965 9245 NM_004751,AC092755,CH471082,AF038650,AF102542,AK312852,BC017032,BP243086,EF152283,AC092754 NP_004742,EAW77571,EAW77572,AAD21525,AAD10824,BAG35705,AAH17032,ABM21534,O95395,ADQ32751 Hs.194710 C2/4GnT|C24GNT|C2GNT2|C2GNTM|GNTM C2GnT-mucin type|OTTHUMP00000163601|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3|beta1,6-N-acetylglucosaminyltransferase-M|beta1,6GlcNAc-transferase|core 2/core 4 beta-1,6-N-acetylglucosaminyltransferase|hC2GnT-M|mucus-type core 2 beta-1,6-N-acetylglucosaminyltransferase protein-coding 1602489 GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) 10753916 51301 AF132035,NM_016591,AC093259,CH471084 AAF63156,Q9P109,AAI60070,NP_057675,EAW95751 Hs.272404 C2GNT3 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4|core 2 beta-1,6-N-acetylglucosaminyltransferase 3|core 2-branching enzyme 3|core2-GlcNAc-transferase 3|glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) protein-coding 1342918 GCNT6 glucosaminyl (N-acetyl) transferase 6 644378 XM_927529,XM_938492,XM_001718537,AL358777 XP_932622,XP_943585,XP_001718589,CAI13998,Q5T4J0 bA421M1.3 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 6|glucosaminyl (N-acetyl) transferase 6 protein-coding 1354424 GCNT7 glucosaminyl (N-acetyl) transferase family member 7 140687 NM_080615,AL109806,AK131203 BAD18395,Q6ZNI0,NP_542182,CAC03741 Hs.655916 C20orf105|dJ1153D9.2 OTTHUMP00000031350|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7|chromosome 20 open reading frame 105 protein-coding 1606709 GCOM1 GRINL1A complex locus This gene (Gcom1) is part of a complex transcript unit that includes the gene for glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A (GRINL1A). Transcription of this gene occurs at an upstream promoter, with two different groups of alternatively spliced variants: Gup for GRINL1A upstream transcripts and Gcom for GRINL1A combined transcripts. The GRINL1A gene uses a downstream promoter for transcription and also has multiple alternatively spliced variants. [provided by RefSeq] 11474202,18849881,15489334,15233991,15146197,14702039,12477932,20093627 145781 BC050322,BU753055,NM_001018091,NM_001018100,NM_152451,AC025271,AC090651,CH471082,AK055535,AL833028,AL833142,AY207007,AY207459,AY208913,AY237639,AY331564,AY333779,AY334560,NM_001018090,AY334561,AY334562,AY341345,AY350748,AY353056,AY353057,AY353058,AY353060,BC101645,BC112148,BX095570,CN284687,CR610275,CR617486,FJ970029 NP_001018100,NP_001018101,NP_001018110,NP_689664,EAW77522,EAW77523,BAB70944,AAO39707,AAP41548,AAP41549,AAP75897,AAQ76825,AAQ76826,AAQ76828,AAQ76829,AAQ76831,AAQ82541,AAQ76832,AAQ76833,AAQ76834,AAQ76836,AAI01646,AAI12149,P0CAP1,Q6EES4,ADA68358,AAQ76827 Hs.719921,Hs.437256 FLJ30973|GRINL1A|Gcom2|Gup|Gup1|Gup2|MGC126694|MGC138353|MYOZAP GRINL1A combined protein Gcom12|GRINL1A combined protein; GRINL1A upstream protein|GRINL1A complex locus protein 1|GRINL1A upstream protein|NMDAR1 subunit-interacting protein|gcom|glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A combined protein|myocardium-enriched Zo-associated protein|myocardium-enriched zonula occludens-1-interacting protein protein-coding 732423 GCS1 glucosidase I This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. [provided by RefSeq] 704404 7635146,15489334,12626409,12490281,12477932,12145188,11942856,10788335,8786151,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177,1678778,12560567,8794362,8794361,8416962,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,16169070,16344560,18303019 7841 NM_006302,NG_008922,AC005041,AJ422288,CH471053,AA292430,AK292553,AK292719,AK304655,AK307991,AK313355,BC002804,BC028337,BC117250,BC117252,BC143934,DC402060,X87237,DA520534,DC388420,NM_001146158 NP_006293,CAD19636,EAW99652,EAW99653,BAF85242,BAF85408,BAG65430,AAH28337,AAI17251,AAI17253,CAA60683,Q13724,Q58F09,NP_001139630 Hs.516119 CDG2B|GCS1 OTTHUMP00000202622|OTTHUMP00000202623|OTTHUMP00000202624|glucosidase I|mannosyl-oligosaccharide glucosidase|processing A-glucosidase I protein-coding 1348453 GCSH glycine cleavage system protein H (aminomethyl carrier) The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase; MIM 238300), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme; MIM 238310), and L protein (a lipoamide dehydrogenase; MIM 238331). Glycine encephalopathy (GCE; MIM 605899), also called nonketotic hyperglycinemia (NKH), may be due to a defect in any one of these enzymes.[supplied by OMIM] 1580863 11752456,15146197,19844255,3348809,1671321,19299230,16450403,15489334,12477932,12402263,11450847,6790577,6111451,2025283,16169070,16189514 2653 AV696698,CN283805,CN283809,NG_016427,NR_033249,NM_004483,AC092718,AY310735,CH471114,AI656660,AK311978,AY533031,BC000790,BC009065,BC020922,BF798008,BG708388,BT009827,CR457072,CR601763,CR603013,CR603107,CR606547,D00723,M69175 NP_004474,AAP50260,EAW95545,EAW95546,BAG34917,AAS59848,AAH00790,AAH20922,AAP88829,CAG33353,BAA00625,AAA36011,P23434,Q53XL7,Q6IAT2,Q6QN92 Hs.546256 GCE|NKH glycine cleavage system H protein, mitochondrial|lipoic acid-containing protein|mitochondrial glycine cleavage system H-protein protein-coding 1353826 GCSL glycine cleavage system protein L 1993704 2654 1345105 GCTG gamma-glutamylcyclotransferase 2655 1602016 GCUD2 gastric cancer up-regulated-2 12477932 653573 NM_207418,AL109844,AB096683,BC146978,BC146992 NP_997301,BAD20788,AAI46979,AAI46993,Q6L9T8 Hs.535577,Hs.715930 MGC57827 protein-coding 1343914 GCY growth control, Y chromosome influenced 2656 734048 GDA guanine deaminase The protein encoded by this gene is an enzyme that catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia. It is also known as a cytosolic regulator of PSD-95 postsynaptic targeting. [provided by RefSeq] 1300048,1580863 20471030,20379614,17207965,12477932,10595517,10574462,7566098,3966794,2649557,14702039,10075721,10542258,16953063,16953061,15489334,14730308,20877300 9615 AL135924,AL590311,CH471089,AA985376,AB033084,AF019638,AF095286,AJ420441,AK023729,AK097540,AK295716,AK300418,BC012859,BC033310,BC053584,CR620032,R45063,NM_004293,AK315988 NP_004284,CAI16261,CAI16262,CAI16265,CAI12631,CAI12632,CAI12633,CAI12635,EAW62528,EAW62529,EAW62530,BAA86572,AAF13301,AAD25978,BAG53485,BAG58560,BAG62147,AAH53584,Q5SZC3,Q5SZC6,BAH14359,ADQ32583,Q9H335,Q9Y2T3 Hs.494163 CYPIN|GUANASE|KIAA1258|MGC9982|NEDASIN GAH|OTTHUMP00000021464|guanine aminase|guanine aminohydrolase|guanine deaminase|p51-nedasin protein-coding 1319106 GDAP1 ganglioside-induced differentiation-associated protein 1 This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1358634 12868504,12707075,12601710,12566285,12499475,12477932,11743580,11743579,11592034,10217254,54332,19340293,18991200,18504680,18492089,18464913,18421898,18231710,18062449,17903300,17433678,16857173,16607474,16343542,15805163,15772096,15489334,15019704,14561495,20232219,20685671,19089472,19381883,19500985,19720140,19782751,19837996 1358634 54332 NM_018972,NM_001040875,NG_008787,AC103952,CH471068,AK292572,AK295594,AL110252,BC024939,BC035450,BC036496,DB505741,Y17849,AB551556,AB551557,AB551558 NP_061845,NP_001035808,EAW87032,EAW87033,BAF85261,BAG58484,AAH24939,CAA76892,Q8TB36,BAJ65577,BAJ65578,BAJ65579 Hs.168950 CMTRIA ganglioside differentiation associated protein 1|ganglioside-induced differentiation-associated protein 1|truncated ganglioside differentiation associated protein 1 protein-coding 1312703 GDAP1L1 ganglioside-induced differentiation-associated protein 1-like 1 The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. [provided by RefSeq] 15489334,14702039,12477932,11780052,11125086,9373149,8125298,17207965 78997 AL035462,AL117382,CH471077,AF123764,AF123765,AF277566,AK056251,AK225166,AK293484,AK297348,AK299259,AK299700,BC000199,NM_024034,BC009014,CR589980,CR597927,CR603440,CR613531,CR749676,CR620596 NP_076939,CAC36290,CAI23550,CAI23551,CAI23552,CAI23553,CAI23109,CAI23110,CAI23112,EAW75930,EAW75931,EAW75932,EAW75933,EAW75934,EAW75935,AAP97243,AAP97244,AAM73515,BAB71128,BAH11519,BAH12559,BAH12979,BAH13107,AAH00199,AAH09014,CAH18467,Q5TE58,Q5TE61,Q71U70,Q71U71,Q96MZ0,ADQ32351 Hs.517059 DKFZp761K228|dJ881L22.1|dJ995J12.1.1 GDAP1-L1|OTTHUMP00000031056|OTTHUMP00000031058|ganglioside-induced differentiation-associated protein 1-like 1 protein-coding 1314445 GDAP2 ganglioside induced differentiation associated protein 2 16344560,12477932,10217254,20379614 54834 NM_001135589,NM_017686,AL121993,AL122007,CH471122,AA281062,AA825512,AK000149,BC013132,BC013324,BJ992034,BX459360,CR601966,CR608212,DA608938,DB043931 NP_001129061,CAI22737,CAI22738,CAI22655,EAW56682,EAW56683,BAA90976,AAH13132,Q9NXN4,NP_060156 Hs.310809,Hs.594430 FLJ20142|dJ776P7.1 ganglioside-induced differentiation-associated protein 2 protein-coding 734410 GDE1 glycerophosphodiester phosphodiesterase 1 20668064,10760272,18227059,16806233,16472945,15489334,12576545,12477932,10493829,20031211 51573 NM_016641,AC003108,AC012621,AC130456,CH471186,CS185583,U91321,AF212862,AF306697,AF306698,AK312912,AY463154,BC001538,BC012153,BC014981,BC025273,BQ897064,CR590251,CR591783,CR605351,CR605785,CR607083,CR612471,CR620034,CR624901 NP_057725,AAC05803,EAW50283,EAW50284,EAW50285,EAW50286,CAJ42764,AAC05440,AAF65234,BAG35758,AAR25624,AAH14981,AAH25273,Q9NZC3 Hs.512607 363E6.2|MIR16 RGS16-interacting membrane protein|glycerophosphodiester phosphodiesterase 1|membrane interacting protein of RGS16|membrane-interacting protein of RGS16 protein-coding 2302688 GDEP gene differentially expressed in prostate 18454873,18188713,17468839,15299187,14702039,12477932,11917942,11536302 118425 NR_026555,AC118141,AF388200,AF462307,AK056825,BC125139,CH471057 AAK83352,Q96J93,ABM84134,ABM87535,EAX05846,EAX05847 Hs.104215 PCAN1 miscrna 1312261 GDF1 growth differentiation factor 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a bicistronic mRNA that also encodes the longevity assurance gene. [provided by RefSeq] 1580863 20634891,20807224,15057824,19553149,19359031,17924340,12477932,10844590,9872981,8401586,2034669,1704486,20413652,20734064 2657 NM_001492,NG_003110,NG_012070,AC003972,AC005197,CH471106,AB209169,M62302 NP_001483,AAB94786,EAW84743,EAW84744,BAD92406,AAA58501,P27539,Q59GE0 Hs.412355 GDF-1|embryonic growth/differentiation factor 1 protein-coding 1342570 GDF10 growth differentiation factor 10 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice suggest that the protein encoded by this gene plays a role in skeletal morphogenesis. [provided by RefSeq] 1580863 8679252,8670277,18949431,18077449,12477932,10844590,15174051,16385451,20237496,20734064 2662 NM_004962,AL731561,CH471251,D49493,AA018253,AK315322,BC028237,D49492,L42113,AK310360 P55107,Q8N6T2,NP_004953,CAH74047,CAH74048,EAW50661,BAA08453,AAH28237,BAA08452,AAL77527 Hs.2171 BMP-3b|BMP3B BIP|GDF-10|bone morphogenetic protein 3B|bone-inducing protein protein-coding 731907 GDF11 growth differentiation factor 11 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice and Xenopus suggest that this protein is involved in mesodermal formation and neurogenesis during embryonic development. [provided by RefSeq] 704404,1580863 20734064,10075854,10391213,18596030,18535106,18519639,17997109,17912435,15988002,10508689,8889549,16845371,19751112 10220 NM_005811,AC073487,AF028334,CH471054,AA053348,AF028333,AF100907,CR611917 NP_005802,AAF21631,EAW96830,EAW96831,AAF21630,AAC72852,O95390,AAI48592 Hs.600883 BMP-11|BMP11 GDF-11|bone morphogenetic protein 11|growth/differentiation factor 11 protein-coding 1344001 GDF15 growth differentiation factor 15 Bone morphogenetic proteins (e.g., BMP5; MIM 112265) are members of the transforming growth factor-beta (see TGFB1; MIM 190180) superfamily and regulate tissue differentiation and maintenance. They are synthesized as precursor molecules that are processed at a dibasic cleavage site to release C-terminal domains containing a characteristic motif of 7 conserved cysteines in the mature protein.[supplied by OMIM] 1580863 19913121,20385121,20628086,20215826,9426002,9375789,9373149,8125298,15073115,14726168,14662774,14575402,12941831,12900512,12894347,12855642,12624183,12514175,12477932,12139236,12090982,12082608,12011055,11994274,11895857,11445565,11278594,11259636,11141057,11134143,11102463,10811612,10777512,10524241,9593718,18398830,18359786,18264720,18029348,17982462,17909264,17908975,17721544,17637746,17548705,17328047,17050687,16775185,16741990,16699947,16484622,16397141,16388506,16286461,16154591,15900300,15757899,15677629,15670751,15342369,15316060,20966402,9326641,9348093,19505919,19505289,19401523,19375854,19302795,19168526,19152406,19133249,19125423,19100681,19074584,19047680,18824595,18801729,18754039,18676680,18657084,18550273,20357380,20431030,20800603,20855664,20576287,19170196,19341722,19357976,19470878,19515791,19521960,19625176,19692168,19695766,19946339,20024638,20031597,20104227,20130018,20160200,20167682,20193126,20237496,20534737 9518 NM_004864,AC008397,AF008303,CH471106,AB000584,AF003934,AF019770,AF173860,AK225431,AK291530,BC000529,BC008962,BT019465,U51731,U88323 NP_004855,AAC39537,EAW84694,BAA19151,AAC24456,AAB88673,AAF89834,BAF84219,AAH00529,AAH08962,AAV38272,AAB88913,Q99988 Hs.616962 GDF-15|MIC-1|MIC1|NAG-1|PDF|PLAB|PTGFB NRG-1|NSAID (nonsteroidal anti-inflammatory drug)-activated protein 1|NSAID-activated gene 1 protein|NSAID-regulated gene 1 protein|PTGF-beta|growth/differentiation factor 15|macrophage inhibitory cytokine 1|placental TGF-beta|placental bone morphogenetic protein|prostate differentiation factor protein-coding 1353215 GDF2 growth differentiation factor 2 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein plays a role in the adult liver and in differentiation of cholinergic central nervous system neurons. [provided by RefSeq] 1580863 15851468,17068149,19366699,19086053,18986983,18922975,18309101,17549388,17311849,15489334,12477932,11748585,10894782,10849432,16385451,19996292,20237496,20398908,20346360,20406889,20734064 2658 NM_016204,AL731561,CH471251,AF156891,AF188285,AK314956,BC069643,BC074921 NP_057288,CAH74046,EAW50660,AAD40309,AAD56960,BAG37460,AAH69643,AAH74921,Q9UK05,ABZ92149,ABZ92481 Hs.279463 BMP-9|BMP9 GDF-2|bone morphogenetic protein 9|growth/differentiation factor 2 protein-coding 1345464 GDF3 growth differentiation factor 3 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. [provided by RefSeq] 1580863 19396148,19864492,20237496,20734064,20800603,18823971,18480259,16339188,15489334,12975309,12477932,10844590,9467948,8429021,16126341 9573 NM_020634,AC006927,CH471116,AF110641,AF263538,AY358875,BC030959 NP_065685,EAW88659,AAM27000,AAF91389,AAQ89234,AAH30959,Q8NI58,Q9NR23,ABM83587,ABM86827 Hs.86232 KFS3|MCOP7|MCOPCB6 GDF-3|growth/differentiation factor 3 protein-coding 1347948 GDF4 growth differentiation factor 4 23709 1345266 GDF5 growth differentiation factor 5 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq] 1580863 17602228,19393216,19565498,19652338,19754961,19782107,19956691,20170953,20189936,20237151,20237496,20360039,9288091,9057810,8702914,8661040,7980526,8589725,9288098,7961761,19479880,19453261,19229295,19058174,19054821,19038017,19029166,19023570,18979166,18947434,18830904,18697781,18629880,18391952,18391951,18391950,18299287,18283415,18203755,18193045,18075819,17989347,17676627,17616513,17384641,16716349,16532400,16508114,16499717,16127465,16014698,15569154,15489334,14973287,14735582,14660436,12707774,12543931,12477932,12357473,12124730,12121354,11780052,11282024,10844590,10512744,9525338,9451821,20683927,20939878,20546612,20633687 8200 CS406372,CS447086,CS453909,CS715846,GM000454,GM709269,GM014136,NM_000557,NG_008076,A43194,A60247,AB019005,AL121586,CH471077,CS025628,X80915,BC032495,BC111566,BC111859,U13660,GN042430 CAL40861,CAL69822,CAL85395,CAP40148,CAS92879,CAT68524,CAT82626,NP_000548,CAA02710,CAA03553,BAA86941,CAB89416,EAW76208,EAW76209,CAI61691,CAA56874,AAH32495,AAI11567,AAI11860,AAA57007,P43026,Q2NKW7,ACE87521,CAX48923,ADR82729 Hs.1573 BMP14|CDMP1|LAP4|OS5|SYNS2 CDMP-1|GDF-5|OTTHUMP00000030755|cartilage-derived morphogenetic protein 1|cartilage-derived morphogenetic protein-1|growth/differentiation factor 5|radotermin protein-coding 1347722 GDF6 growth differentiation factor 6 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq] 16049014,19240811,19129173,18716610,18425797,17236135,15489334,15246821,12606286,12477932,12027540,10448738,10022976,9525338,9218508,9057810,8145850,7961761,20057906,20494911,19492402,20734064 392255 NM_001001557,NG_008981,AP003465,CH471060,AJ537424,BC043222,BC127947,BC127948 NP_001001557,EAW91747,CAD60934,AAH43222,AAI27948,AAI27949,Q6KF10,AAI56446 Hs.492277 BMP13|CDMP2|KFS|KFS1|KFSL|MCOP4|MCOPCB6|MGC158100|MGC158101|SCDO4|SGM1 GDF-6|growth/differentiation factor 16|growth/differentiation factor 6 protein-coding 1322500 GDF7 growth differentiation factor 7 This gene encodes a member of the bone morphogenetic protein (BMP) family. BMPs belong to the transforming growth factor-beta superfamily of secreted signalling molecules that regulate diverse processes in growth, repair and embryonic development. In mouse, this gene functions as an inductive signal from the roof plate required for the specification of neuronal identity in the dorsal spinal cord. 20102312,16049014,12741987,10022976,9808626,20237496,20339536,20677014,20734064 151449 NM_182828,AC012065,CH471053,AB158468,AF522369 NP_878248,EAX00811,BAD07014,AAP97720,Q75RY1,Q7Z4P5,AAI60118 Hs.447688 BMP12 GDF-7|growth/differentiation factor 7 protein-coding 736579 GDF9 growth differentiation factor 9 Growth factors synthesized by ovarian somatic cells directly affect oocyte growth and function. Growth differentiation factor-9 (GDF9) is expressed in oocytes and is thought to be required for ovarian folliculogenesis. GDF9 is a member of the transforming growth factor-beta superfamily. [provided by RefSeq] 1580863 8849725,7760846,19366876,19111296,18854109,18162287,18006624,17482612,17453295,17156781,17027369,16954162,16645022,16344560,16278619,16169070,15489334,15383276,15372022,14970198,12477932,12446716,12135884,10712517,10443672,8429021,19931079,20547206,20458753,19376510,19438907,19505950,19846738,20067794,20236105,20237496,20451184,20427239,20705511,20734064,20660033 2661 NM_005260,AC004500,CH471062,AK301962,AK315973,BC096228,BC096229,BC096230,BC096231,BX117145,CA488820,DB320693 NP_005251,AAC08450,EAW62309,BAG63375,BAH14344,AAH96228,AAH96229,AAH96230,AAH96231,O60383 Hs.25022 GDF-9|OTTHUMP00000066213|growth/differentiation factor 9 protein-coding 731728 GDI1 GDP dissociation inhibitor 1 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific mental retardation. [provided by RefSeq] 1580863,704404 19570034,20381070,15166316,15592455,15489336,15489334,15480879,15292224,14702039,12802062,12777533,12477932,12198156,11809807,16344560,15647276,11583574,11256614,11076863,10751420,9674910,9668174,9620768,9490022,9106537,8836150,8826463,8733135,8491184,8281148,8175798,7849400,7744738,7585614,7513052,2115118,1286667,11741295,17353931,7543319,18487148,16713569,16596196,16381901,16368544,19996123,20562859 2664 AB101784,AB101785,AB101786,AB101787,AB101788,AB101789,AB101790,AB101801,AB101802,AB101803,AB101804,AB101805,AB101806,AB101807,AB101808,AB101809,AB101810,AB101811,AB101812,AB101813,AB101814,AB101815,AB101816,AB101817,AB101818,AB101819,AB101820,AB101831,AB101832,NG_008954,AB101741,AB101742,AB101743,AB101744,AB101745,AB101746,AB101747,AB101748,AB101749,AB101750,AB101751,AB101752,AB101753,AB101754,AB101755,NM_001493,AB101833,AB101834,AB101835,AB101836,AB101837,AB101838,AB101839,AB101840,AB101841,AB101842,AB101843,AB101844,AB101845,AB101846,AB101847,AB101848,AB101849,AB101850,BX936385,CH471172,L44140,AB101757,AB101758,AB101759,AB101760,AB101771,AB101772,AB101773,AB101774,AB101775,AB101776,AB101777,AB101756,AB101778,AB101779,AB101780,AB101781,AB101782,AB101783,X79354,AB102647,AF400433,AK090746,AK123405,AK131466,AK294893,AK295306,AK303248,AL833629,BC000317,BC012201,BT019884,CR542258,U14623,CR542276,CR592563,CR604675,CR611750,CR620001,D45021,DA133083,DB005169,L05086,X79353 BAC80373,BAC80374,BAC80375,BAC80376,BAC80377,BAC80378,BAC80379,BAC80390,BAC80391,BAC80392,BAC80393,BAC80394,BAC80395,BAC80396,BAC80397,BAC80398,BAC80399,BAC80400,BAC80401,BAC80402,BAC80403,BAC80404,BAC80405,BAC80406,BAC80407,BAC80408,BAC80409,BAC80420,NP_001484,BAC80330,BAC80331,BAC80332,BAC80333,BAC80334,BAC80335,BAC80336,BAC80337,BAC80338,BAC80339,BAC80340,BAC80341,BAC80342,BAC80343,BAC80344,BAC80422,BAC80423,BAC80424,BAC80425,BAC80426,BAC80427,BAC80428,BAC80429,BAC80430,BAC80431,BAC80432,BAC80433,BAC80434,BAC80435,BAC80436,BAC80437,BAC80438,BAC80439,CAI95780,EAW72709,EAW72710,EAW72711,AAA92648,BAC80421,BAC80345,BAC80346,BAC80347,BAC80348,BAC80349,BAC80360,BAC80361,BAC80362,BAC80363,BAC80364,BAC80365,BAC80366,BAC80367,BAC80368,BAC80369,BAC80370,BAC80371,BAC80372,AAA21558,CAA55909,BAC81116,AAK92482,BAG57985,BAG58286,BAG64332,AAH00317,AAH12201,AAV38687,CAG47054,CAG47072,BAA08078,AAC15851,CAA55908,P31150,CAL37538,CAL38104,CAL38477,ABM82975,ABM86169,ABM87842 Hs.74576 FLJ41411|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4 GDI-1|guanosine diphosphate dissociation inhibitor 1|mental retardation, X-linked 41|mental retardation, X-linked 48|oligophrenin-2|protein XAP-4|rab GDI alpha|rab GDP dissociation inhibitor alpha|rab GDP-dissociation inhibitor, alpha protein-coding 1346683 GDI2 GDP dissociation inhibitor 2 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 7543319,16130169,12493773,17507299,16344560,15489334,14702039,12477932,11771757,10996854,10512627,9434952,8575461,7929030,7585614,7513052,11809807,16385451,20562859 2665 NM_001494,NM_001115156,AL596094,CH471072,Y13287,AB451295,AB451429,AF144713,AK094671,AK122841,AK297177,AK297554,AK309360,AK312485,BC005145,BC024168,BT006868,BX648038,CR457073,CR591329,CR593969,CR607897,D13988,DA069966,Y13286 NP_001485,NP_001108628,CAI13360,CAI13361,CAI13362,CAI13363,CAI13364,CAI13365,EAW86430,EAW86431,EAW86432,CAA73735,BAG70109,BAG70243,AAD34588,BAG53755,BAG59669,BAG59947,BAG35388,AAH05145,AAH24168,AAP35514,CAG33354,BAA03095,CAA73734,P50395,Q5SX87,Q5SX88,Q6IAT1,Q8TB95,ABM92190,ABM84659,Q5SX90 Hs.299055 FLJ16452|FLJ37352|RABGDIB GDI-2|OTTHUMP00000019014|guanosine diphosphate dissociation inhibitor 2|rab GDI beta|rab GDP dissociation inhibitor beta|rab GDP-dissociation inhibitor, beta protein-coding 1352473 GDI2P GDP dissociation inhibitor 2 pseudogene 16914728,15249583,11287630,9434952,16354680 2667 NG_001124,AC004899,AC006024,CH236955,Y13298 GDI2P pseudo 3207428 GDI2P2 GDP dissociation inhibitor 2 pseudogene 2 100420259 AL365362,NG_022783 pseudo 735823 GDNF glial cell derived neurotrophic factor This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature form of the protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. In addition to the transcript encoding GDNF, two additional alternative transcripts encoding distinct proteins, referred to as astrocyte-derived trophic factors, have also been described. Mutations in this gene may be associated with Hirschsprung disease. [provided by RefSeq] 704404,1580863,2324925,2324932 20677014,20739562,20479525,20448065,20700745,8493557,8988018,12358785,7830769,8637574,15242795,9811930,19282698,19240061,19188437,19184120,19183406,19086053,18970938,18845535,18652760,18454440,18353777,18343820,18313696,18222320,18081024,18060868,17935603,17897812,17522305,17490619,17470563,17298301,17192954,17023388,17009072,16895582,16820412,16644101,16569669,16497298,16125842,16081799,15870700,15817265,15708562,15489334,15211107,15207271,15106825,15003293,12947332,12837245,12477932,12414995,12397373,11973622,20538960,11932334,11900567,11844483,11844480,11842239,11823451,11790765,11756008,11732574,11600185,11588183,11565554,10917288,10829012,10809797,10366742,9853901,9497256,9482105,9407096,9359036,9098026,8968758,8896568,8674117,8522325,7867768,7830766,7490108,8896569,11181995,19561646,19562947,19584438,19664536,19741036,19825405,19896648,20125088,20237496,8657307,9808338,20601681,20518854 2324925,2324932 2668 AAB33493,AAB33494 NM_199231,NG_011675,AC008869,AF053749,AF063586,AJ001896,CH471119,L19063,AF053748,AJ001897,AJ001898,AJ001899,AJ001900,AY052832,NM_000514,BC069119,BC069369,BC128108,BC128109,CR541923,DQ235474,HI949612,BC008580,NM_001190468,NM_001190469 NP_000505,NP_954701,AAC98782,CAA05074,EAW55963,EAW55964,AAA67910,AAD43139,CAA05075,CAA05076,CAA05077,CAA05078,AAL11017,AAH69119,AAH69369,AAI28109,AAI28110,CAG46721,AAB33493,AAB33494,P39905,CBY79817,AAH08580,NP_001177397,NP_001177398 Hs.248114 ATF1|ATF2|HFB1-GDNF|HSCR3 ATF|OTTHUMP00000221304|OTTHUMP00000221306|OTTHUMP00000221307|astrocyte-derived trophic factor|glial cell line derived neurotrophic factor|glial cell line-derived neurotrophic factor|hGDNF protein-coding 1349545 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 1580863 18991142,15489334,14702039,14612981,12477932,17690467 284161 NM_182569,AC091059,AC099850,CH471109,AK094770,AK131013,AY271346,BC034432,EU192951,AI478202,NM_001165993,NM_001165994 NP_872375,EAW94411,EAW94412,BAC04419,AAQ01751,AAH34432,ABW73991,Q8N9F7,NP_001159465,NP_001159466 Hs.631744 FLJ27503|FLJ37451|GDE4|MGC35046|UGPQ glycerophosphodiester phosphodiesterase 4|glycerophosphodiester phosphodiesterase domain-containing protein 1 protein-coding 1346004 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 737633,1580863 15772651,15489334,14702039,12975309,12933806,12477932,16169070,16344560,19596859 737633 54857 NM_017711,AL139398,CH471132,AB048363,AK000214,AK097293,AK299255,AK301025,AK307778,AK310090,AK316035,AY358986,BC032009,AI277430,DA934769,NG_016413,NM_001171191,NM_001171192,NM_001171193 NP_060181,CAI41020,EAX05339,EAX05340,BAB13350,BAA91014,BAG53448,BAG61286,BAG62641,BAH14406,AAQ89345,AAH32009,Q9HCC8,ACT64459,ACT64460,NP_001164662,NP_001164663,NP_001164664 Hs.438712 FLJ20207|GDE3|OBDPF glycerophosphodiester phosphodiesterase 3|glycerophosphodiester phosphodiesterase domain-containing protein 2|glycerophosphoinositol inositolphosphodiesterase GDPD2|osteoblast differentiation promoting factor protein-coding 1601852 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 15489334,14702039,12477932,9373149 79153 NM_024307,AC012645,CH471238,AK026256,AK225450,BC002714 NP_077283,EAW79918,EAW79919,EAW79920,BAB15414,AAH02714,Q7L5L3 Hs.289015 FLJ22603|MGC4171 glycerophosphodiester phosphodiesterase domain-containing protein 3 protein-coding 1602967 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 220032 NM_182833,AP001855,AP002827,CH471076,AY313782,AY326450 NP_878253,EAW75024,EAW75025,AAQ72549,AAP92403,Q6W3E5,AAI60091 Hs.249795 GDE6 GDPD domain containing protein|glycerophosphodiester phosphodiesterase 6|glycerophosphodiester phosphodiesterase domain-containing protein 4|ugpQ protein-coding 1604590 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 The retinoid-inducible GDPD5 gene encodes a transmembrane protein that is necessary and sufficient to drive spinal motor neuron differentiation (Rao and Sockanathan, 2005 [PubMed 16195461]).[supplied by OMIM] 17578682,16303743,16195461,15498874,15489334,14702039,12975309,12477932,17275818,18667693 81544 NM_030792,AP002815,CH471076,AF217989,AF289614,AF318351,AF318377,AF451987,AK074848,AK091658,AK098808,AK310490,AL833941,AY358477,BC018771,BC020203,BC029416,BC033391,BC090053 NP_110419,EAW74967,EAW74968,EAW74969,EAW74970,EAW74971,EAW74972,AAG17232,AAL55798,AAL55858,AAL55884,AAP97686,BAC11242,BAC05418,AAQ88841,AAH18771,AAH20203,AAH29416,AAH33391,Q8NDN3,Q8WTR4,Q9HBR3,ABM83369,ABW03322,CAD38796 Hs.503297 GDE2|PP1665 glycerophosphodiester phosphodiesterase 2|glycerophosphodiester phosphodiesterase domain-containing protein 5 protein-coding 1601833 GEFT RhoA/RAC/CDC42 exchange factor The Rho family of small GTPases act as molecular switches to control a wide range of cellular processes. Guanine nucleotide exchange factors (GEFs), like GEFT, activate Rho GTPases by accelerating GDP/GTP exchange (Souchet et al., 2002 [PubMed 11861769]).[supplied by OMIM] 20739613,18096806,16496360,16314529,15632174,15322108,15069594,12547822,12477932,11861769,18851832,18936096 115557 NM_182947,NM_001111270,AC025165,AB370196,AF487514,BC012860,BC018536,BC047559,CR599416,CR624415,DB481981 NP_891992,NP_001104740,BAF94999,AAO49463,AAH12860,AAH18536,AAH47559,Q86VW2 Hs.61581 GEFT|p63RhoGEF RAC/CDC42 exchange factor|RhoA/RAC/CDC42 exchange factor|guanine nucleotide exchange factor GEFT|rac/Cdc42/Rho exchange factor GEFT|rac/cdc42 exchange factor|rho guanine nucleotide exchange factor 25|rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT protein-coding 1316557 GEM GTP binding protein overexpressed in skeletal muscle The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. 1580863 7912851,17107948,17052716,16242932,15489334,12477932,11956230,11395774,9115241,8825643,7809057,12093360,16189514,14701738,16344560,19060904,20233927 2669 NM_005261,NM_181702,AP003478,CH471060,AK314017,BC022010,BI759640,CR603445,U10550,U13052,DB018783 NP_005252,NP_859053,EAW91709,EAW91710,BAG36728,AAH22010,AAA64911,AAC50067,P55040,ABM81747,ABM84902 Hs.654463 KIR|MGC26294 GTP-binding mitogen-induced T-cell protein|GTP-binding protein GEM|GTP-binding protein overexpressed in skeletal muscle|RAS-like protein KIR|kinase-inducible Ras-like protein protein-coding 1344278 GEMIN4 gem (nuclear organelle) associated protein 4 The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 17353931,11714716,10725331,15130578,10531003,19138993,19047128,18675250,16301532,14603441,12869526,12668731,12477932,12065586,11748230,11713266,11642406,11522829,11230166,11149922,14970384,11914277,10942426,11509230,20585341,20721975,19596235,19851984,20211803,20231361,20562859,20696395,20732906,20819778 50628 NM_015721,AC087392,AF258545,CH471108,AF173856,AF177341,AK302722,AL080150,AL080167,BC020062,BC032084,BC036024,DB455185 NP_056536,AAG24546,EAW90653,EAW90654,AAF35283,AAG17985,BAG63941,CAB45743,CAB45755,AAH20062,P57678,Q8WUM5,Q9HBB9,Q9HC39,ACE87641 Hs.499620 DKFZp434B131|DKFZp434D174|HC56|HCAP1|HHRF-1|p97 HCC-associated protein 1|component of gems 4|gemin-4 protein-coding 1321352 GEMIN5 gem (nuclear organelle) associated protein 5 GEMIN5 is part of a large macromolecular complex localized to both the cytoplasm and the nucleus that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), and GEMIN4 (MIM 606969).[supplied by OMIM] 1580863 11714716,16857593,15130578,10531003,19377484,18245461,17640873,17640370,17541429,17081983,16964243,16344560,15489334,15302935,14702039,12477932,12065586,11914277,16739988,19750007,20085707,20513430 25929 AC008421,CH471062,AK022748,AK074066,AK315101,AL117665,AY063750,BC008776,BC014147,BC036894,BC040931,BC113614,BC143724,DA328736,DA400244,NM_015465 NP_056280,EAW61623,EAW61624,BAB14222,BAB84892,CAB56035,AAL38980,AAH08776,AAH14147,AAH36894,AAI13615,AAI43725,Q58EZ8,Q8TEQ6 Hs.483921 DKFZp586M1824|MGC142174 gem-associated protein 5|gemin 5 protein-coding 1322484 GEMIN6 gem (nuclear organelle) associated protein 6 GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM] 11748230,15130578,10531003,17023415,15815621,15489334,14702039,12477932,12065586,16189514,15939020,15848170,19596235 79833 NM_024775,AC018693,CH471053,AF453443,AK027112,AK315627,BC018195,BC029584,BM471707 NP_079051,AAY24255,EAX00360,EAX00361,AAL48292,BAB15660,BAG37995,AAH18195,Q8WXD5 Hs.143818 FLJ23459 SIP2|gem-associated protein 6|gemin 6|gemin-6 protein-coding 1354242 GEMIN7 gem (nuclear organelle) associated protein 7 The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. 1580863 12065586,15130578,10531003,17023415,16169070,16159890,15489334,14702039,12477932,16189514,11748230,15848170,16712791 79760 AK024018,AY114106,BC007793,BU602037,CB148876,CR457321,CR595446,W35331,NM_001007270,NM_024707,NM_001007269,AC011489,CH471126 BAB14780,AAM44083,AAH07793,CAG33602,Q9H840,NP_001007271,NP_078983,NP_001007270,EAW57321 Hs.466919 SIP3 gem-associated protein 7|gemin 7|gemin-7 protein-coding 1343150 GEMIN8 gem (nuclear organelle) associated protein 8 17023415,16434402,15489334,14702039,12477932 54960 NM_001042480,NM_017856,NM_001042479,AC003035,CH471074,AK000521,AK095002,AK125062,BC003607,BC014324,BC020785,BX386466,CR457241,CR597144,CR619344,DQ224033,NG_021285 NP_001035945,NP_060326,NP_001035944,EAW98851,EAW98852,EAW98853,EAW98854,EAW98855,EAW98856,BAA91227,BAC86038,AAH03607,AAH14324,AAH20785,CAG33522,ABB46495,Q9NWZ8 Hs.592237 FAM51A1|FLJ20514|FLJ43072 OTTHUMP00000022944|family with sequence similarity 51, member A1|family with sequence similarity 51, member a1|gem-associated protein 8|gemin-8 protein-coding 1350190 GEMIN8P gem (nuclear organelle) associated protein 8 pseudogene 100128431 AC021818,NG_009513 FAM51A2P|GEMIN8P pseudo 3436550 GEMIN8P2 gem (nuclear organelle) associated protein 8 pseudogene 2 644600 AC012183,NG_022523 pseudo 2881092 GEMIN8P3 gem (nuclear organelle) associated protein 8 pseudogene 3 100421535 NG_022678,Z95124 pseudo 3051268 GEMIN8P4 gem (nuclear organelle) associated protein 8 pseudogene 4 12477932 492303 AL391497,AY726571,BC009550,BC041038,BC053364,NR_002830 Hs.550796 pseudo 1606393 GEN1 Gen homolog 1, endonuclease (Drosophila) 20634321,19020614,15576351,14702039,12477932,20040574,20379614,20512659,20610542,20800603 348654 NM_182625,NM_001130009,AC093731,AC097377,CH471053,AK025489,AK098188,AK131387,BC035863,BC117204,BC117206,BX490061,CR936783 NP_872431,NP_001123481,EAX00865,BAC05254,BAD18538,AAI17205,AAI17207,Q17RS7,Q8N1H6,ADR83431 Hs.467793 DKFZp781F0986|FLJ40869|Gen flap endonuclease GEN homolog 1 protein-coding 619574 GFAP glial fibrillary acidic protein This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863,704404 20471030,19170683,20121722,16507904,16458536,16365790,16344560,16303762,16217707,16189514,16168595,16168593,16147953,15979880,15885920,15839736,15837555,15732097,15489334,15477559,15469203,15465095,15284230,15238995,14702039,14557587,12975300,12944715,12931206,12884016,12837269,12581808,12477932,12447932,12177195,12169273,12084347,12058025,12034796,11891800,11867077,11595337,11587071,11567214,11379820,11138011,10510252,9693047,9417904,9373149,9099667,8889548,8125298,7964717,7822264,2780570,2349237,2163003,2155236,2740350,19540848,19521276,19444543,19420941,19405953,19379794,19372295,19283393,19264642,19221847,19129171,19110265,19034380,18977241,18685083,18508349,18276609,18197187,18079314,18054694,18004641,17985264,17981838,17934883,17894839,17805552,17703343,17601350,17515952,17318298,17203480,17008879,16866629,16826512,16773221,16565071,16507909,2114109,1918004,1847665,1636374,1602151,1601131,15285794,8381971,7842474,8318270,17077296,11519482,2201025,15519244,10597774,19019082,19447584,19508443,19618846,19647039,19663312,19668151,19686046,19888461,20048155,21079180,20936779 2670 NM_002055,NM_001131019,NG_008401,AC015936,AY142187,AY142188,AY142191,CH471178,CS088769,M67446,AF419299,AJ306447,AK098380,AK098758,AK128790,AK222683,AK295734,AK296259,AK303728,AK315398,BC012228,BC013596,BC041765,BC062609,BM931499,CR591619,DA254392,J04569,M26638,S40719,U92979,AL133013 NP_002046,NP_001124491,AAN87903,AAN87904,AAN87907,EAW51567,EAW51568,EAW51569,EAW51570,EAW51571,CAI99149,AAL16662,CAC69881,BAC87610,BAD96403,BAG58573,BAG58972,BAG64704,BAG37791,AAH13596,AAH41765,AAH62609,AAA52528,AAA52529,AAB22581,P14136,CAB61354 Hs.514227 FLJ45472 glial fibrillary acidic protein protein-coding 736290 GFER growth factor, augmenter of liver regeneration The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq] 1580863 20593814,11819575,11709497,10982794,10384986,10206950,9813496,8900538,8575761,8076931,6843662,3568764,1552903,16169070,15304329,19616613,19629817,20066738,20382118,19335987,20877624,20393596,20690902,20816831,12681488,19397338,18513187,18272248,17336303,16937489,16865786,16677602,15982324,15894171,15489334,14500725,12681483,12477932,12180965,11925624,11879572 2671 NG_016288,NM_005262,AC005606,AF146394,AF183892,AJ238317,CH471112,AF124603,AF124604,AF208342,AF306863,AY550027,BC002429,BC028348,BG705583,CR616739,U31176 Q9NY86,Q9UQK8,NP_005253,AAD36986,AAD56538,CAB87993,EAW85578,EAW85579,EAW85580,AAD17327,AAD17328,AAG43494,AAG38105,AAS55642,AAH02429,AAH28348,AAA96390,P55789,Q53YM6,Q9H2X5 Hs.726325 ALR|ERV1|HERV1|HPO|HPO1|HPO2|HSS ERV1 homolog|FAD-linked sulfhydryl oxidase ALR|erv1-like growth factor|growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)|growth factor, erv1 -like|hepatic regenerative stimulation substance|hepatopoietin protein|truncated augmenter of liver regeneration protein-coding 733642 GFI1 growth factor independent 1 transcription repressor This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq] 704404,1580863 16713569,19506020,19887785,20075157,20087403,17909014,8441411,19164764,19026687,18805794,18701459,18371060,17646546,17636019,17244686,17213822,17207994,16888099,16716599,16344560,16319680,16287849,15947108,15489334,15131254,14702039,12874834,12778173,12477932,12351384,11060035,10737800,9051000,8754800,7789186,20571393 2672 NM_001127215,NM_001127216,NG_007874,AC104456,CH471097,AB209606,AK123009,AK313876,BC032751,BC074866,BC074867,BE242676,BM150826,BQ336135,DA927584,DB129173,DB137690,NM_005263,U67369 NP_005254,NP_001120687,NP_001120688,EAW73092,EAW73093,EAW73094,BAD92843,BAG53846,AAH32751,AAH74866,AAH74867,AAB37272,Q59F55,Q99684,ABM82199,ABM85387 Hs.73172 FLJ94509|GFI-1|SCN2|ZNF163 growth factor independence-1|growth factor independent protein 1|zinc finger protein 163|zinc finger protein Gfi-1 protein-coding 1323334 GFI1B growth factor independent 1B transcription repressor 1580863 16713569,9566867,17420275,17272506,16177182,15507521,15280509,12477932,12351384,9878267,19360458,19522008,19965638,20124515,20143233,21048031 8328 NM_004188,NM_001135031,AL593851,CH471090,AF081946,AI097490,AY428733,BC035626,BC043371,BC048254,BX113435,CR536546 NP_004179,NP_001128503,CAH73618,CAH73619,EAW88023,EAW88024,EAW88025,AAD08672,AAR06639,AAH43371,CAG38783,Q5VTD9 Hs.553160 OTTHUMP00000022443|OTTHUMP00000022444|growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)|growth factor independent protein 1B|potential regulator of CDKN1A translocated in CML|zinc finger protein Gfi-1b protein-coding 1342920 GFI2 growth factor independent 2 2666 1604558 GFM1 G elongation factor, mitochondrial 1 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq] 17160893,16632485,15537906,15489334,15358359,14702039,12477932,11735030,11374907,3169261,2556394,20877624,19695239,19716793,20843780 85476 NM_024996,NG_008441,AC025033,AC080013,CH471052,AF309777,AF367998,AK000780,AK022724,AK023694,AK092293,AK315031,BC049210,CR617202,CR623235,HQ205226,HQ205227,HQ205229,HQ205230,HQ205231,HQ205234,HQ205237,HQ205238,HQ205240,HQ205241,HQ205243,HQ205244,HQ205245,HQ205247,HQ205248,HQ205249,HQ205251,HQ205252,HQ205255,HQ205258,HQ205261,HQ205262,HQ205263,HQ205264,HQ205265 NP_079272,EAW78677,EAW78678,EAW78679,EAW78680,EAW78681,EAW78682,AAK58877,AAK53402,BAB14205,BAG52523,BAG37516,AAH49210,Q96RP9,Q9H9M0,ADP90694,ADP90695,ADP90697,ADP90698,ADP90699,ADP90702,ADP90705,ADP90706,ADP90708,ADP90709,ADP90711,ADP90712,ADP90713,ADP90715,ADP90716,ADP90717,ADP90719,ADP90720,ADP90723,ADP90726,ADP90729,ADP90730,ADP90731,ADP90732,ADP90733 Hs.518355 COXPD1|EFG|EFG1|EFGM|EGF1|FLJ12662|FLJ13632|FLJ20773|GFM|hEFG1 EF-Gmt|G translation elongation factor, mitochondrial|OTTHUMP00000213512|OTTHUMP00000213514|elongation factor G 1, mitochondrial|elongation factor G, mitochondrial|elongation factor G1|mEF-G 1|mitochondrial elongation factor G|mitochondrial elongation factor G1 protein-coding 1603941 GFM2 G elongation factor, mitochondrial 2 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in at least three transcript variants encoding distinct isoforms. [provided by RefSeq] 18753147,16632485,15489334,12477932,11735030,19716793,20877624 84340 NM_170691,NM_032380,NM_170681,NG_011531,AC093214,CH471084,AF111808,AF367997,AK025314,AK307839,AK308422,AK315705,AY453587,BC015712,BC030612,CR592399,CR607096 NP_733792,NP_115756,NP_733781,EAW95743,EAW95744,EAW95745,EAW95746,EAW95747,EAW95748,AAL39010,AAK53401,BAB15109,AAS49035,AAH15712,AAH30612,Q969S9 Hs.277154 EF-G2mt|EFG2|MRRF2|MST027|RRF2|RRF2mt|hEFG2|mEF-G 2 MSTP027|OTTHUMP00000222951|OTTHUMP00000222952|elongation factor G 2, mitochondrial|mitochondrial elongation factor G2|mitochondrial ribosome recycling factor 2|ribosome-releasing factor 2, mitochondrial protein-coding 1323002 GFOD1 glucose-fructose oxidoreductase domain containing 1 1580863 18821565,15489334,14702039,14574404,12477932,20379614 54438 NM_018988,AL583828,AL589984,AL591969,CH471087,AK000337,AK027010,BC119005,BC124557,BC148295 NP_061861,CAI14822,CAI21577,CAI21578,EAW55331,BAA91093,BAB15624,AAI19006,AAI24558,AAI48296,Q9NXC2 Hs.484686 glucose-fructose oxidoreductase domain-containing protein 1 protein-coding 1604583 GFOD2 glucose-fructose oxidoreductase domain containing 2 17081983,15489334,14702039,12975309,12477932,9373149,8125298,20864672 81577 NM_030819,NR_027398,NR_027399,AC010530,CH471092,AK074382,AK091606,AK225997,AK307280,AL832904,AY358169,BC000757,BC002943,BC107585,BI826603,BQ003788,CR614501,DC368734 NP_110446,EAW83166,BAB85066,BAG52390,CAH10637,AAQ88536,AAH00757,AAH02943,AAI07586,Q3B7J2 Hs.461030,Hs.307084 FLJ23802|MGC11335 glucose-fructose oxidoreductase domain-containing protein 2 protein-coding 1353383 GFPT1 glutamine-fructose-6-phosphate transaminase 1 This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq] 2313352,2313353,2313356,1625423,1624365,1625539,1580863 17941647,17542649,17081983,17024311,16964243,16341674,15878746,15613432,15595739,15489334,15308130,14988277,12802498,12477932,11679416,11587069,10997685,10806197,10198162,9519709,9110174,8619474,7607664,7601477,2037571,20845477,20562859,8144040,1460020,19170765,19059404 2313352,2313353,2313356,1625423,1624365,1625539 2673 NM_002056,AC114772,CH471053,AF131846,AF334737,AF445027,AW079566,BC045641,BG723175,BM744371,CR598871,M90516 NP_002047,AAY14827,EAW99851,EAW99852,EAW99853,AAK15342,AAL38588,AAH45641,AAA58502,Q06210,Q8WYR5 Hs.580300 GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT D-fructose-6-phosphate amidotransferase 1|glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1|glutamine-fructose-6-phosphate transaminase 1|glutamine: fructose-6-phosphate amidotransferase-1|glutamine:fructose 6 phosphate amidotransferase 1|hexosephosphate aminotransferase 1 protein-coding 1351553 GFPT2 glutamine-fructose-6-phosphate transaminase 2 2307362,1580863 10198162,17574229,17542649,17081983,15489334,14764791,14702039,12477932,20353610 2307362 9945 NM_005110,AC008610,CH471165,AB016789,AK001242,AK022507,AK297750,AK314551,BC000012,BT009818 NP_005101,EAW53755,EAW53756,BAA74731,BAG50875,BAG51080,BAG60100,BAG37137,AAH00012,AAP88820,O94808,ABM83102,ABM86297 Hs.696497 FLJ10380|GFAT2 D-fructose-6-phosphate amidotransferase 2|GFAT 2|glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2|glutamine: fructose-6-phosphate aminotransferase 2|glutamine:fructose 6 phosphate amidotransferase 2|hexosephosphate aminotransferase 2 protein-coding 733164 GFRA1 GDNF family receptor alpha 1 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq] 1580863 20669561,10829012,9545641,8674117,19282698,19188437,19019765,18845535,18394855,18353777,18089803,17825269,17298301,16813162,16644101,16551639,16344560,16175604,15489334,14759258,14702039,14566559,14514671,12837245,12624147,12490080,12477932,12065680,11932334,16385451,19896648,20116071,20379614,20424473,20347960,11360200,11182089,10821644,10774729,9740802,9697851,9600247,9482105,9465905,9407096,9192898,9182803,9177201,9108413,8889548,8657309,7829101,20350599 2674 U97144,NM_001145453,NM_145793,AC012470,AC073588,AF038420,AF058999,AL832661,CH471066,AF038421,AF042080,AK001423,AK056108,AK292886,AK302914,AW021438,BC014962,BM675677,BU935138,BX648964,DA742495,U95847,NM_005264,CS417511,CS487670 AAB71811,AAC51646,P56159,ABM83136,ABM86332,NP_005255,NP_001138925,NP_665736,AAC39693,AAC14431,EAW49456,EAW49457,EAW49458,AAC39692,AAB97371,BAF85575,BAH13842,AAH14962,CAL48763,CAM55947 Hs.388347 DKFZp313E1012|DKFZp686J0156|FLJ10561|FLJ31546|GDNFR|GDNFRA|GFR-ALPHA-1|MGC23045|RET1L|RETL1|TRNR1 GDNF family receptor alpha-1|GDNF receptor alpha-1|GDNFR-alpha-1|GPI-linked anchor protein|Glial cell line-derived neurotrophic factor receptor alpha|OTTHUMP00000020560|PI-linked cell-surface accessory protein|RET ligand 1|TGF-beta related neurotrophic factor receptor 1|TGF-beta-related neurotrophic factor receptor 1|glial cell line derived neurotrophic factor family receptor alpha 1 protein-coding 732295 GFRA2 GDNF family receptor alpha 2 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. 61606,1580863,704404 19573479,19860791,20116071,20369355,20800603,10829012,9192898,18521090,17825269,17522305,15489334,12624147,12490080,12477932,11409869,10774729,9407096,9259272,9182803,9177201 61606 2675 AK299623,AP008236,NM_001165038,NM_001165039,NM_001495,AC105186,AC129925,CH471080,AF002700,AY326396,AY941828,BC041688,U93703,U97145,CS487672 BAG61551,NP_001158510,NP_001158511,NP_001486,EAW63742,AAC52036,AAP88378,AAX46325,AAH41688,AAB61922,AAC51647,O00451,Q58J92,CAM55948 Hs.441202 GDNFRB|NRTNR-ALPHA|NTNRA|RETL2|TRNR2 GDNF family receptor alpha-2|GDNF receptor alpha-2|GDNF receptor beta|GDNFR-alpha-2|GDNFR-beta|GFR-alpha 2|GFR-alpha-2|NTNR-alpha|PI-linked cell-surface accessory protein|RET ligand 2|TGF-beta related neurotrophic factor receptor 2|TGF-beta-related neurotrophic factor receptor 2|TRN receptor, GPI-anchored|glial cell line derived neurotrophic factor family receptor alpha 2|glial cell line derived neurotrophic factor receptor, beta|neurturin receptor alpha protein-coding 731370 GFRA3 GDNF family receptor alpha 3 The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq] 1580863,704404 9407096,9576965,9490034,16773224,16765900,15489334,15340161,12975309,12624147,12490080,12477932,11360200,10978357,9883723,7829101,19304517,20116071,18029348 2676 NM_001496,AC106752,CH471062,AF051767,AF086292,AK297693,AK314022,AW020606,AY358997,AY359037,BC037951,CR618834,CS487680 NP_001487,EAW62152,EAW62153,AAC24355,BAG60051,BAG36733,AAQ89356,AAQ89396,AAH37951,O60609,ABM81776,ABM84930,CAM55952 Hs.58042 GDNF family receptor alpha-3|GDNF receptor alpha-3|GDNFR-alpha-3|GFR-alpha-3|GPI-linked receptor|gdnf-family receptor alpha 3|glial cell line-derived neurotrophic factor receptor alpha-3 protein-coding 1343287 GFRA4 GDNF family receptor alpha 4 The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 727298,1580863 15225646,12624147,11780052,11551746,11116144,10958791,9740802 727298 64096 NM_145762,NM_022139,AL356755,CH471133,AF253318,AJ291673,AJ291674,AJ291675 NP_665705,NP_071422,CAC16508,CAI23466,EAX10527,EAX10528,EAX10529,AAG25925,CAC19690,CAC19691,CAC19692,Q9GZZ7,AAI72271,AAI72567 Hs.302025 GDNF family receptor alpha-4|GDNF receptor alpha-4|GDNFR-alpha-4|GFR receptor alpha 4|GFR-alpha-4|persephin receptor protein-coding 1604920 GFRAL GDNF family receptor alpha like 16086688,14574404,12975309 389400 NM_207410,AL592426,CH471081,AY358198 NP_997293,CAH72998,EAX04441,AAQ88565,Q6UXV0 Hs.526967 C6orf144|GRAL|UNQ9356|bA360D14.1 GDNF family receptor alpha-like|IVFI9356 protein-coding 1317154 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15457209,16344560,16996030,19788741,17494868,17151287,17005855,16407204,16303743,15886016,15775984,15615712,15489334,15466887,15461802,15231748,15039775,14973137,14702039,14665628,14660606,14638859,14636058,14567678,12858163,12808037,12767220,12668765,12636914,12578827,12538641,12477932,12135764,12060753,11950392,11859376,11821067,11390366,11387475,11301005,10814529,10749927,10747089,10747088,10591208,9373149,8125298,12221117,11124697,12505986,12679809,15143060,17596511,17506864 26088 DA455573,NM_001172687,NM_001172688,BC029388,NM_001001560,NM_001001561,AL035496,CH471095,CQ783371,Z83844,AF190862,AF218584,AF233521,AK075256,AK092417,AK095427,AK097270,AK122898,AK225157,AK290548,AL110219,BC000538,BC010917,NM_013365,CR456493,CR596724,CR609702,BC044629 CAQ08831,CAQ08832,CAQ08833,CAQ08834,CAQ08835,CAQ08836,CAQ08837,CAQ08838,CAQ08839,CAQ08840,CAQ08841,CAQ08842,NP_001166158,NP_001166159,AAH29388,NP_037497,NP_001001560,NP_001001561,CAI20951,EAW60168,EAW60169,EAW60170,CAF86574,CAB63037,CAI20369,AAF05707,AAF42847,AAF35393,BAC11501,BAG53054,BAG53788,BAF83237,CAB53679,AAH00538,AAH44629,CAG30379,Q5R3N1,Q6IC75,Q86YA9,Q8NCS6,Q9UJY5,CAK54521,CAK54820,AAH10917 Hs.499158 ADP-ribosylation factor binding protein 1|ADP-ribosylation factor-binding protein GGA1|OTTHUMP00000198162|gamma-adaptin related protein 1|gamma-adaptin-related protein 1|golgi associated, gamma adaptin ear containing, ARF binding protein 1|golgi-localized, gamma ear-containing, ARF-binding protein 1 protein-coding 1312455 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq] 1580863 17494868,17451558,16189514,15615712,15489334,15146197,15039775,14665628,14638859,14567678,12808037,12606052,12477932,12429846,12213833,12135764,11950392,11886874,11821067,11390366,11387476,11387475,11331584,11301005,10814529,10747089,10747088,10702286,10493829,10470851,8889548,10749927,12505986,18431031,17596511,14702039,16344560,16996030,19019082,19478182,19788741 23062 NM_015044,AC002400,AC008915,CH471145,AB029003,AF165531,AF190863,AF233522,AF323754,AK024619,AK026350,AK308425,BC000284,BC050620,BU689580,BU855556,CN423115,CR594963,CR624601,CR593083,AK093769,DA439738 NP_055859,AAC05813,EAW55827,EAW55828,EAW55829,BAA83032,AAF42806,AAF05708,AAF35394,AAK38634,AAH00284,Q9UJY4,ABM83460,ABM86671 Hs.460336 FLJ20966|KIAA1080|VEAR ADP-ribosylation factor-binding protein GGA2|VHS domain and ear domain of gamma-adaptin|VHS domain and ear domain-containing protein|gamma-adaptin-related protein 2|golgi associated, gamma adaptin ear containing, ARF binding protein 2|golgi-localized, gamma ear-containing, ARF-binding protein 2 protein-coding 1319955 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq] 1580863 20484053,10749927,12505986,17553422,17494868,16996030,16977309,16135791,15701688,15615712,15494413,15489334,15231748,15143060,15039775,10747088,8590280,12221117,14702039,14665628,14660606,14638859,14567678,12810073,12477932,12215646,12213833,12060753,12032548,11950392,11859375,11387475,11301005,10814529,10747089,17116753,19788741,19815556,8889548,16497223 23163 AK296843,AK301895,AK302278,AK302423,AK304692,AL833603,BC051732,BC063285,BC070044,CR620327,D63876,BM981305,NM_001172703,NM_001172704,NR_033345,NM_138619,AC022211,CH471099,AF190864,AF219138,AF219139,AK124541,AK291651,AK291685,AK293291,NM_014001 BAH11485,BAH12442,BAH13578,BAH13665,BAH13705,BAH14238,AAH70044,BAA09926,Q9NZ52,NP_001166174,NP_001166175,NP_054720,NP_619525,EAW89252,EAW89253,EAW89254,EAW89255,EAW89256,EAW89257,EAW89258,EAW89259,EAW89260,AAF05709,AAF42848,AAF42849,BAF84340,BAF84374 Hs.87726 KIAA0154 ADP-ribosylation factor-binding protein GGA3|Golgi-localized, gamma ear-containing, ARF-binding protein 3|golgi associated, gamma adaptin ear containing, ARF binding protein 3 protein-coding 1312569 GGCT gamma-glutamyl cyclotransferase GGCT (EC 2.3.2.4) catalyzes the formation of 5-oxoproline (pyroglutamic acid) from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis (Oakley et al., 2008 [PubMed 18515354]).[supplied by OMIM] 17207965,18515354,17932939,16765912,15489334,14702039,12690205,12477932,20110353,21136669,19423540,20406964,20438785,20527979 79017 NM_024051,AACC02000087,AC005154,CH471073,AK021779,AK315608,BC000625,BC005356,BC013937,BC019243,CR591557,CR600288,CR612380,CR617385,BE407390,BE885397,BG527593,NM_001199815,NM_001199816,NM_001199817,NR_037669 ADQ33188,NP_076956,EAL24452,EAW93950,EAW93951,EAW93952,EAW93953,BAG51049,BAG37977,AAH00625,AAH05356,AAH13937,AAH19243,O75223,NP_001186744,NP_001186745,NP_001186746 Hs.530024,Hs.728341 C7orf24|CRF21|FLJ11717|GCTG|GGC|Ggc|MGC3077 OTTHUMP00000202475|cytochrome c-releasing factor 21|gamma -glutamyl cyclotransferase|gamma-glutamylcyclotransferase protein-coding 68554 GGCX gamma-glutamyl carboxylase This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. 704404,1598791,1580863 19913121,20628086,20694283,20716240,20811787,19942260,20332604,21057703,1749935,9845520,19436136,19383345,19233910,19116367,18800149,18680736,18498174,18234294,18079608,17786385,17764537,17189218,17144668,17049586,17048007,17029979,16979907,16676068,15900282,15883587,15815621,15489334,15365175,15287948,14660587,14567538,12968027,12963724,12477932,12475254,12034728,11591726,11580082,11570873,11133752,11087858,11071668,10934213,10910912,10556651,10393081,9538022,9373149,9166845,8702425,8647260,8125298,7759116,3944102,2145029,1498334,19652895,19794411,19821094,19958090,20020283,20149073,20193673,20213530,20716530 1598791 2677 NM_000821,NG_011811,AC016753,AF253530,CH471053,U65896,AK130139,AK222827,AK225663,AK297397,AK298982,AK310483,AK313126,BC004422,BC013979,CR607119,DC296316,EU847509,L17128,NM_001142269,M81592 NP_001135741,NP_000812,AAY24340,AAF64245,EAW99509,EAW99510,AAB39832,BAD96547,BAG59837,BAG61076,BAG35946,AAH13979,ACF70731,AAA91834,AAA58643,P38435,Q53GV4,Q9NYE3,ABM83874,ABM87195 Hs.77719 FLJ26629|VKCFD1 peptidyl-glutamate 4-carboxylase|vitamin K gamma glutamyl carboxylase|vitamin K-dependent gamma-carboxylase protein-coding 735324 GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq] 69845,1300048,1580863 2867095,1713122,19307503,19161160,19093297,19016697,18851872,18842806,18830263,18676680,18414409,17409534,17286537,17081065,17009228,16945597,16875718,16141796,15492986,15489334,12643545,12477932,11953431,10598552,10570974,9614206,8816764,8621474,3759978,11005824,19170196,19625176,19636555,19692168,19774638,19815704,19827168,19841321,19858780,20037791,20197200,20453000,20651609 69845 8836 NM_003878,AC120042,AF147082,CH471068,AK290450,AK301094,BC025025,CR592214,CR600078,CR601761,CR605764,CR612261,U55206 NP_003869,AAF03360,EAW86862,BAF83139,BAG62694,AAH25025,AAC05579,Q92820 Hs.78619 GH conjugase|folylpolygammaglutamyl hydrolase|gamma-Glu-X carboxypeptidase|gamma-glutamyl hydrolase protein-coding 1315571 GGN gametogenetin This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq] 15642376,15489334,14702039,12574169,12477932 199720 NM_152657,AC005789,CH471126,AF538035,AF538036,AF538037,AK057356,AK093032,BC035008,HC007004,BK000550 NP_689870,EAW56786,EAW56787,EAW56788,AAP31500,AAP31501,AAP31502,BAC04025,CBH19307,AAH35008,DAA00240,Q86UU3,Q86UU5,ABM82154,ABM85339 Hs.447948 FLJ35713|MGC33369 gametogenetin protein-coding 1642110 GGNBP1 gametogenetin binding protein 1 This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though it is functional in other mammals. [provided by RefSeq] 15642376,15625700,19913121,20628086 449520 NR_028361,CH471081,Z93017,AY383626,AY383627 EAX03743,AAR26430,AAR26431,Q5YKI7 Hs.582973 pseudo 1343556 GGNBP2 gametogenetin binding protein 2 1304483,1580863 16344560,15642376,15145523,14702039,11728448,12477932 1304483 79893 DA494492,DC424145,AC003042,AC126327,CH471199,AF126964,AF268387,AJ404670,AK024883,AK026214,AK124053,AK124084,AK290687,AK292161,NM_024835,AK301614,BC137491,BG393068,CD557886,AC233698 NP_079111,EAW57566,EAW57567,AAG43247,AAK38614,CAC18878,BAB15031,BAB15397,BAG54002,BAF83376,BAF84850,BAG63099,AAI37492,Q9H3C7 Hs.514116 DIF-3|DIF3|FLJ21230|FLJ22561|FLJ42090|LCRG1|LZK1|ZFP403|ZNF403 C3HC4-type zinc finger protein|gametogenetin-binding protein 2|laryngeal carcinoma related gene 1|laryngeal carcinoma-related protein 1|zinc finger protein 403 protein-coding 1343459 GGPS1 geranylgeranyl diphosphate synthase 1 This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 9741684,10026212,17646172,17536018,16806233,16710414,16698791,17207965,12477932,12446740,10931946,10101267,8419360,15489334,18726356,20191015 9453 NM_001037277,NM_004837,AL391994,CH471098,AB016043,AB017971,AB019036,AF057698,AF125394,AI088775,AK025139,AK293278,BC005252,BC067768,BI462253,BI520491,BI963107,CB216084,CR603114,DB473584,NR_036605,CR612465 NP_001032354,NP_004828,CAI13753,EAW70016,EAW70017,EAW70018,EAW70019,EAW70020,BAA76511,BAA75909,BAA77251,AAG45581,AAD43050,BAH11480,AAH05252,AAH67768,O95749,ADQ32621 Hs.647791 GGPPS|GGPPS1 GGPP synthase|GGPPSase|OTTHUMP00000216161|OTTHUMP00000216162|OTTHUMP00000216163|OTTHUMP00000216164|geranylgeranyl pyrophosphate synthase protein-coding 735681 GGT1 gamma-glutamyltransferase 1 The enzyme encoded by this gene catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein, and is present in tissues involved in absorption and secretion. This enzyme is a member of the gamma-glutamyltransferase protein family, of which many members have not yet been fully characterized and some of which may represent pseudogenes. This gene is classified as type I gamma-glutamyltransferase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1601300,1580863,2315577,2315598,2315601,2315604,2315606,2315614,2315593,1300048 20205615,20648472,18715564,19695568,19863187,19896490,20090360,20404051,20484958,20092819,20129611,20452593,20538960,1968061,15528406,2904146,19148121,19057528,19034330,18987455,18977241,18940312,18708042,18483283,18464913,18441507,18357469,18242760,18037420,17965490,17895524,17698237,17652002,17601350,17503391,17260973,17141888,17109502,17095717,16386375,15694941,15528049,15489334,15461802,15084671,15052692,14754911,12835487,12721789,12532447,12480555,12477932,12447480,12144532,12030366,10756096,10591208,10392451,9862348,9738450,9074928,8889548,8827453,8519693,8104871,8104826,8095045,7906515,7759490,7689219,7673200,2907498,2900635,2896486,2885259,2869484,2573352,2568315,2563599,1378736,28899,19463,18198,11940314,20691173,21044991,21125972,20139978 1601300,2315577,2315598,2315601,2315604,2315606,2315614,2315593 2678 NM_013430,NM_005265,NM_001032364,NM_001032365,NG_008111,AC000051,AJ006806,AJ006854,AJ007378,AJ007379,AJ007380,AJ007493,AJ230125,AP000356,AL832738,AU077341,BC025927,BC035341,BC065921,BC069326,BC069473,BC069504,BC128234,BC128238,BC128239,BM673976,BU157907,BU164348,CR456494,DQ000492,J04131,J05235,L20490,L20493,L20494,M24087,M24903,X60069 NP_038347,NP_005256,NP_001027536,NP_001027537,CAA07266,CAA07485,CAA07486,CAA07487,CAA07536,AAH25927,AAH65921,AAH69326,AAH69473,AAH69504,AAI28235,AAI28239,AAI28240,CAG30380,AAA52547,AAA35889,AAA02884,AAA02886,AAA02887,AAA35899,AAA52546,CAA42674,O75693,O76032,O76033,P19440,Q6ISU8,Q6NZY2,Q9UEN8,Q9UEN9,CAK54522,CAK54821,ABM84338,ABM86876 Hs.595809,Hs.645535 CD224|D22S672|D22S732|GGT|GGT 1|GTG|MGC96892|MGC96904|MGC96963 GGT 1|OTTHUMP00000028921|OTTHUMP00000197959|gamma glutamyl-transferase 1|gamma-glutamyl transpeptidase|gamma-glutamyltranspeptidase 1|glutamyl transpeptidase protein-coding 1353052 GGT2 gamma-glutamyltransferase 2 GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM] 1580863 20622017,18486136,18656271,19214177,19670414,19012630,18421185,18357469,18342385,18297606,18071669,17976673,10591208,8104871,2573352 728441 XM_003118822,XM_001129425,XM_001129377,AP000550,M30474 XP_003118870,XP_001129425,XP_001129377,AAA52548,P36268 Hs.568255 GGT|GGT 2 OTTHUMP00000197939|OTTHUMP00000198499|gamma-glutamyltransferase 2|gamma-glutamyltranspeptidase 2 protein-coding 1350985 GGT3P gamma-glutamyltransferase 3 pseudogene 12477932,10737800,8104871,2573352,18357469,14715246 2679 NR_003267,AC008132,BC108264,BC143607,CR613324 A6NGU5 Hs.595809 GGT3 gamma-glutamyltransferase 3 pseudo 2290504 GGT4P gamma-glutamyltransferase 4 pseudogene 18357469 643171 NG_007580,AL356585 pseudo 733414 GGT5 gamma-glutamyltransferase 5 This gene is a member of a gene family that encodes gamma-glutamyl transpeptidase enzymes. This enzyme consists of a heavy and a light chain, and is able to hydrolyze the gamma-glutamyl moiety of glutathione. It converts leukotriene C4 to leukotriene D4, however, it doesn't convert synthetic substrates that are commonly used to assay gamma-glutamyl transpeptidase. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,69846,1300048 1676842,18357469,15489334,15461802,12477932,11063908,10591208,10090893,9374738,9373149,8125298,8095916,6122208 69846 2687 NM_001099782,NM_001099781,NM_004121,AP000353,AP000354,CH471095,AI581436,AK225661,AK226019,AK292006,AK312401,AL117414,BC011362,BC073999,BT009808,BX425817,CR591358,CR602504,CT841518,M64099,AK293683,AK297869,AK304522 NP_001093252,NP_001093251,NP_004112,EAW59643,EAW59644,EAW59645,BAF84695,CAB55910,AAH11362,AAH73999,AAP88810,CAJ86448,AAA58503,P36269,Q53XM9,Q6GMP0,ABM81961,ABM85140,BAG57124,BAG60196,BAG65326 Hs.437156 DKFZp566O011|FLJ92733|GGT-REL|GGTLA1 GGT 5|gamma-glutamyl cleaving enzyme|gamma-glutamyl transpeptidase-related enzyme|gamma-glutamyl transpeptidase-related protein|gamma-glutamyltransferase 5|gamma-glutamyltransferase-like activity 1|gamma-glutamyltranspeptidase 5 protein-coding 1603275 GGT6 gamma-glutamyltransferase 6 GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM] 18357469,16344560,16303743,12477932,8889548 124975 NM_153338,NM_001122890,AC118754,CH471108,CQ783528,AA661618,AK074646,AK129501,AK296645,AK300648,BC063111,BM720407,DA645854 NP_699169,NP_001116362,EAW90432,EAW90433,EAW90434,CAF86704,BAC11110,BAC85168,BAG59245,BAG62336,AAH63111,Q6P531,Q6ZPD7 Hs.130749 FLJ25990|FLJ90165 GGT 6|gamma-glutamyltransferase 6|gamma-glutamyltransferase 6 homolog|gamma-glutamyltransferase 6 homolog (rat)|gamma-glutamyltranspeptidase 6 protein-coding 731694 GGT7 gamma-glutamyltransferase 7 This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq] 1580863 18357469,16344560,14702039,12693554,12562771,12477932,12270127,11780052,8104871,20379614 2686 NM_178026,AL049709,CH471077,AK090413,AK097100,AK124788,AK299494,AY138815,BC033745,BC040030,BC101370,BC101371,BC101372,BC141843,BQ013461,BX401449,CA454346,DA117929 NP_821158,CAB61787,EAW76249,EAW76250,EAW76251,EAW76252,BAC03394,BAC04950,BAC85950,BAG61452,AAN15928,AAH33745,AAI01371,AAI01372,AAI01373,AAI41844,Q6ZVB2,Q9UJ14 Hs.433738 D20S101|GGT4|GGTL3|GGTL5|dJ18C9.2 GGT 7|gamma-glutamyltransferase 4|gamma-glutamyltransferase 7|gamma-glutamyltransferase-like 3|gamma-glutamyltransferase-like 5|gamma-glutamyltranspeptidase 7|gamma-glutamyltranspeptidase-like 3 protein-coding 2290516 GGT8P gamma-glutamyltransferase 8 pseudogene 18357469,14702039 645367 NR_003503,AC027612,AK055838 Hs.650223 FLJ31276|GGT1P1 pseudo 1350501 GGTA1 glycoprotein, alpha-galactosyltransferase 1 Alpha-1,3-galactosyltransferase is a Golgi membrane-bound enzyme involved in the biosynthesis of the carbohydrate chains of glycoproteins and glycolipids. Enzyme levels are developmentally regulated and differentiation dependent. The enzyme is present in most mammals but cannot be detected in man, apes, or Old World monkeys. The carbohydrate structure produced by the enzyme is immunogenic in man, and most normal, healthy individuals have a significant titer of a natural antibody against the enzyme. Aberrant expression of the enzyme in man has been implicated in autoimmune disorders and in the occurrence of certain germ cell tumors.[supplied by OMIM] 17194757,12499400,12477932,11773054,2108966,1559713 2681 NR_003191,AL359644,J05421,AF305838,AF378121,AF378122,AF378123,BC045756,CR593158,CR602791 AAL09374,Q4G0N0 Hs.97469 GGTA|GLYT2|MGC48635|a1/3GTP pseudo 1605884 GGTA1P glycoprotein, alpha-galactosyltransferase 1 pseudogene 10978293,2108966,1901859,1559713 121328 NG_002767,AC012518,AF196986,AF378672,M60263 GGTA1P|GLYT2L|GLYT3|HGT2 pseudo 1353216 GGTL1 gamma-glutamyltransferase-like 1 8104871 2684 1345457 GGTL2 gamma-glutamyltransferase-like 2 8104871 2685 1353524 GGTLA3 gamma-glutamyltransferase-like activity 3 10843999 128831 1343352 GGTLC1 gamma-glutamyltransferase light chain 1 This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 17207965,18357469,16289162,15489334,12477932,11780052,10843999,7689219,20932654 92086 NM_178311,NM_178312,AL133466,CH471133,BC040904,L20491,L20492 ADQ33123,NP_842563,NP_842564,CAC03399,EAX10125,EAX10126,EAX10127,EAX10128,EAX10129,EAX10130,EAX10131,AAH40904,AAA02885,AAA35864,Q9BX51 Hs.355394 GGTL6|GGTLA3|GGTLA4|MGC50550|dJ831C21.1|dJ831C21.2 OTTHUMP00000030455|gamma-glutamyl transpeptidase|gamma-glutamyltransferase light chain 1|gamma-glutamyltransferase-like activity 3|gamma-glutamyltransferase-like activity 4|gamma-glutamyltransferase-like protein 6|gamma-glutamyltranspeptidase-like protein-coding 1345603 GGTLC2 gamma-glutamyltransferase light chain 2 Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC2, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM] 1580863 18357469,12477932,10591208,9074928,8830654,7689219 91227 NM_199127,NG_000002,D87002,AI026655,AW183356,BC069534,BX282400,X98922 NP_954578,BAA20001,AAH69534,CAA67421,Q14390,Q6ISH0 Hs.450000,Hs.632765 GGTL4|MGC96916 OTTHUMP00000205586|gamma-glutamyltransferase light chain 2|gamma-glutamyltransferase-like 4|gamma-glutamyltransferase-like protein 4 protein-coding 2291779 GGTLC3 gamma-glutamyltransferase light chain 3 Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM] 18357469,7906515,2904146 728226 NG_011826,AC023490,L10397 B5MD39 GGT pseudo 2291821 GGTLC4P gamma-glutamyltransferase light chain 4 pseudogene 18357469,7906515,2904146 729838 NG_005992,AP000354,L10395 GGT pseudo 2291814 GGTLC5P gamma-glutamyltransferase light chain 5 pseudogene 18357469,7906515,2904146 653590 NG_007453,AC011718,L10399 GGT pseudo 69101 GH1 growth hormone 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq] 1580863,2315674,2315659,2315655,2315681,2315684,2315685,2315658,2315682,2315688,2315653,704404,1601312,1601313,2315650 17636034,17534663,17496728,17492509,17479231,17405836,17400806,17395896,17392003,17357792,17272398,17272397,17234973,17223997,17211558,17211256,17116217,17090643,17082888,17047377,17044098,17038549,17019066,16914737,16845601,16807684,16762973,16572267,16564564,16543404,16517055,16491012,15004410,15001589,14998943,14997482,14988388,14761840,14673137,14671660,14631161,14595650,14559725,12930995,12721156,12720086,12666876,12655557,12655556,12592062,12590639,12574219,12566947,12477932,12445833,12435888,12428212,12240900,12198566,12000366,11994274,11916628,11914025,11904318,11864603,11836331,11773624,11502836,10931946,10689634,10469016,10445339,10391209,9556914,9276733,9175738,8674830,8552145,8530604,8364549,7862673,7714096,7462247,7356479,7169009,7072716,7028740,6357679,6306568,6269091,19955757,19955758,20858702,20132087,20734064,20351314,20395397,20881960,9353194,20472479,20472480,20598930,20801067,19075184,19064544,19058314,19022915,19016004,19010462,18992148,18974274,18950677,18831980,18800374,18793862,18787048,18785993,18686625,18681778,18640775,18636124,18633341,18631396,18624627,18569023,18567523,18554279,18537700,18504173,18499741,18482854,18464752,18462969,18461004,18432585,18423883,18413425,18409193,18299463,18187617,18178497,18160466,18082739,18054353,18047908,18004746,17998942,17975128,17936052,17927666,17922505,17785368,17726075,17697029,17693614,9360546,5810834,6303755,7984244,8943276,17353931,9144201,8063815,8923468,12552091,7565946,8496314,7782332,11549663,19543094,19453261,19429121,19421410,19407495,19404232,19293581,19278522,19207478,19180878,19144755,19123788,19095751,19094740,19092717,19077426,16424673,16384844,16368752,16368751,16352683,16331968,16322384,16322331,16284391,16214911,16213174,16133148,16109534,16102809,16083754,15950665,15857837,15844470,15784718,15755445,15741328,15701573,15691369,15638293,15591764,15591149,15545704,15489334,15476590,15473132,15472182,15353581,15241820,15118263,15070916,15044591,6262212,5279528,5279046,5144027,4675454,3912261,3447173,3162714,3004851,2820841,2744760,2180927,1980158,1634529,1549776,1322425,386281,377496,7535773,19913121,20580999,20592127,20628086,20427283,17500058,19051037,19067728,19386527,19480608,19491373,19500600,19567515,19567534,19568604,19579232,19587145,19603307,19698976,19761807,19772878,19773097,19773279,19797429,19813164,19837935,19916171,19952226,20020582,20150954,20164039,20164294,20168335,20190159,20190537,20222001,20233782,20333869,20403354,20418654,20453000,2825030,19845749,19472088,20002733,20426845,20682777 2315674,2315659,2315655,2315681,2315684,2315685,2315658,2315682,2315688,2315653,1601312,1601313,2315650 2688 NM_022561,NM_022560,NM_000515,NM_022559,NG_001334,NG_011676,A12770,AC127029,CH471109,EU421712,J03071,M13438,V00520,AF110644,AF185611,NM_022562,AY613431,AY613432,BC062475,BC075012,BC075013,BC090045,M14398,V00519,A00469 NP_072056,NP_072055,NP_072054,NP_000506,NP_072053,CAA01057,EAW94233,EAW94239,EAW94251,EAW94261,ABZ88711,ABZ88712,ABZ88713,ABZ88714,ABZ88715,AAA52549,AAA98618,CAA23779,AAD48584,AAG09699,AAT11508,AAT11509,AAH62475,AAH75012,AAH75013,AAH90045,AAA52554,CAA23778,P01241,Q6IYF0,Q6IYF1,CAA00065 Hs.655229 GH|GH-N|GHN|IGHD1B|hGH-N pituitary growth hormone|somatotropin protein-coding 1344971 GH2 growth hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq] 1580863 19844941,20005926,20403354,8943276,18356738,17701665,15718272,15563602,15531513,15489334,12946357,12477932,12213191,11994274,9820620,9709963,9367422,7384802,7169009,7072716,6306568,6286668,6262212,3379057,2744760,2460050,2196278,1980158,1955498,1378436 2689 NM_022558,NM_002059,NM_022556,NG_001334,AC040958,CH471109,EU421715,J03071,K00470,AB451332,AB451477,AF006060,AF006061,AK312194,NM_022557,BC020760,CR541902,CR541924,CR608232,CR610881,CR621109,J03756,M38451 NP_072051,NP_072052,NP_002050,NP_072050,EAW94238,EAW94248,EAW94252,EAW94258,ABZ88719,ABZ88720,ABZ88721,ABZ88722,AAA52552,AAA98619,BAG70146,BAG70291,AAB71828,AAB71829,BAG35127,AAH20760,CAG46700,CAG46722,AAB59547,AAB59548,AAA35891,O14643,O14644,P01242,Q6FH32,Q6FH54 Hs.406754 GH-V|GHL|GHV|hGH-V growth hormone variant|placenta-specific growth hormone|placental-specific growth hormone 2316339 GLUCO234_H protein-coding 1603379 GHDC GH3 domain containing 16303743,15489334,14702039,12477932,11735219,11161808,16344560 84514 NM_032484,NM_001142622,NR_024573,AC099811,CH471152,CQ783605,AF316997,AK074700,AK075277,AK122777,AK123075,AK298933,AK307058,AK307628,BC011056,BC022784,CR603987,NM_001142623,DB084267 NP_001136095,NP_115873,NP_001136094,EAW60811,EAW60812,EAW60813,EAW60814,EAW60815,EAW60816,CAF86772,AAK15472,BAC11146,BAC11514,BAG53722,BAG61036,AAH22784,Q8N2G8 Hs.38039 D11LGP1|LGP1 D11lgp1e-like|GH3 domain-containing protein|homolog of mouse LGP1 protein-coding 1345873 GHITM growth hormone inducible transmembrane protein 1580863 20819778,20877624,11256614,18417609,16381901,15489336,15489334,15164054,12975309,12477932,11230166,11076863,9373149,9110174,8619474,8125298,16385451,18440869 27069 AC022389,AL603756,CH471142,CS072954,AB009685,AF060923,AF078863,AF131820,AF161400,AK098770,AK130094,AK130097,AK225318,AK292864,AL136713,AL834502,NM_014394,AY358824,BC010354,BC022872,CR533519,CR596934,CR598450,CR607970,CR611455,CR613304,CR614231,CR618105,AK297960,AK298332,AK299937 NP_055209,CAH72660,CAH72661,EAW80367,EAW80368,EAW80369,EAW80370,CAI93684,BAA93049,AAG43135,AAD44495,AAD20052,AAF28960,BAF85553,CAB66648,CAH56398,AAQ89183,AAH10354,CAG38550,Q5VT94,Q658I8,Q6FIA7,Q9H3K2,Q9P099,Q9Y6G2,CAL38307,CAL38561,BAG60272,BAG60581,BAG61770 Hs.352656 DERP2|DKFZp566C0746|FLJ26584|HSPC282|MICS1|My021|PTD010|TMBIM5 dermal papilla-derived protein 2|growth hormone-inducible transmembrane protein|mitochondrial morphology and cristae structure 1|transmembrane BAX inhibitor motif containing 5|transmembrane BAX inhibitor motif-containing protein 5 protein-coding 69149 GHR growth hormone receptor This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. The precise location of this cleavage site has not been determined for the human protein. 2301716,2307367,2307368,2307364,2307366,2307374,2307382,2307363,2307365,2307378,2307370,2307369,2307380,2307376,704404,1601315,1601316,1580863 20734064,20810604,20849725,20855935,21073120,17514010,17462934,17426087,17405847,17350302,17347571,17289896,17287408,17220348,17148568,17137217,17090634,17082603,17003087,16757551,16741161,16722931,16582564,16572267,16394090,16381017,16372230,16352683,16291706,16291702,16246940,16213173,16116438,15891957,15857837,15755445,15751611,15743767,15583394,15563602,15196705,15085728,15061875,15001620,14718574,14678285,14551225,14517972,12907755,12846737,12756585,12735788,12679461,12611612,12586763,12423626,12088868,11924928,11851338,11785980,11158048,10976913,10870033,10866662,10764769,10585430,10567404,10551776,10502458,10391209,9851797,9814495,9632636,9360546,9341147,9140387,9121492,9058373,9024232,8943276,8923468,8901592,8889548,8855247,8702683,8636303,8504296,8488849,8421103,8360189,8063815,7862673,7782332,1549776,2825030,8137822,7565946,2813379,19487270,19486024,19453261,19417039,19407498,19344888,19344073,19336510,19204726,19189684,19116246,19116245,19089622,19084217,19064572,19050057,18974274,18950677,18832799,18820897,18793346,18676680,18648510,18636124,18611972,18488018,18445665,18420710,18404972,18401200,18397980,18299312,18204098,18182091,18160465,18073295,18054353,18031312,18001530,17991764,17986824,17973940,17957148,17925340,17884454,17849745,17764692,17761766,17711923,17706034,17671221,17666591,17622584,17598975,17573420,17555512,17555507,17547682,17546465,17537658,7540178,2779634,2776934,2776481,2406245,2369845,1999489,1955498,1569971,1284474,7535773,7608270,9353194,19913121,20592127,20628086,20634197,12477932,12552091,17274879,17474147,17500058,19167335,19170196,19439509,19447840,19540305,19541519,19584188,19605543,19625176,19634821,19692168,19701549,19730683,19744097,19812236,19815155,19842933,19844941,19850678,19864451,20013551,20039885,20149700,20219401,20382688,20421852,20447065,20453000,20540360,7984244,19681916,1301391,20664532 2301716,2307367,2307368,2307364,2307366,2307374,2307382,2307363,2307365,2307378,2307370,2307369,2307380,2307376,1601315,1601316 2690 HC250959,HC311148,NM_000163,NG_011688,AC093225,AC113368,AC114941,AC116343,AF155912,AF210633,AJ295613,AY579204,CH471119,CQ832616,M28466,AF230800,BC136496,BM719293,BU625645,X06562,Z11849,Z11850,AJ278681,Z11802,CS482307 CBJ05777,CBJ21229,NP_000154,AAF71399,CAC06613,CAC06615,AAY24715,EAW56023,CAH05763,AAA52555,AAI36497,CAA29808,CAA77873,CAA77874,P10912,Q32ZL1,Q9HCW9,Q9NRZ8,CAA77846,CAM36317 Hs.125180,Hs.684631,Hs.684633 GHBP GH receptor|growth hormone binding protein|growth hormone receptor|serum binding protein|somatotropin receptor protein-coding 737566 GHRH growth hormone releasing hormone The protein encoded by this gene belongs to the glucagon family and is a preproprotein that is produced in the hypothalamus. The preproprotein is cleaved to form a 44 aa factor, also called somatocrinin, that acts to stimulate growth hormone release from the pituitary. Variant receptors for somatocrinin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. [provided by RefSeq] 2301425,2289976,2289972,2289974,2301426,2301422,2301423,2301424,1580863 12036966,3002494,2992358,2857452,2854259,18240029,18684444,18996102,19453261,19487270,19622623,20150954,20453000,20734064,20810604,20673733,10537133,3008329,7680413,6192430,1333056,12867592,15538933,18329818,11773624,8421089,19088192,19086053,17546465,17372203,16606630,16214911,15489334,15362970,12511850,12477932,12424433,12364462,12213676,12186980,12126741,11780052,8670892,8020943,6812220,6415488,3918305,3029387,20602615,20634197,19524226,20372804 2301425,2289976,2289972,2289974,2301426,2301422,2301423,2301424 2691 AI631051,BX102214,NM_001184731,NM_021081,AL031659,CH471077,L00134,L00137,AW134884,BC098109,BC098161,BC099727,X00094 NP_001171660,NP_066567,CAB41762,CAI42673,EAW76072,AAA52608,AAA52609,AAH98109,AAH98161,AAH99727,CAA24955,CAA24956,P01286 Hs.37023 GHRF|GRF|INN|MGC119781 OTTHUMP00000030915|growth hormone-releasing factor|growth hormone-releasing hormone|sermorelin|somatocrinin|somatoliberin|somatorelin protein-coding 734452 GHRHR growth hormone releasing hormone receptor This gene, expressed in the pituitary, encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. Many alternate transcriptional splice variants encoding different isoforms have been described, but only two have been characterized to date. [provided by RefSeq] 728477,704404,1580863,1601338,1601337 19913121,20628086,20634197,7680413,1333056,12867592,11773624,8528260,15944917,9482665,17356054,10461027,19487270,19453261,19209235,19086053,19029774,18785993,18255167,18034778,17546465,16820890,16606630,16284391,16214911,15362970,12853948,12794696,12690205,12656663,12606621,12534354,12444890,12424433,12364462,12220735,12220726,12126741,11875102,11232012,10962031,10429879,10084571,9814493,9467553,8188233,7629234,7559877,18577758,19524226,16344560,18240029,18629632,19567534,19622623,19640273,19733620,19897610,19965916,20424473,20453000,20734064,20810604,20819778,12036966 728477,1601338,1601337 2692 NM_000823,AACC02000087,AB065701,AC005155,CH471073,U17579,U42225,AB058895,AF282259,AF282260,AF282261,AF282262,AV750179,AY557192,L01406,L09237,S79912,DB348314,NG_021416 P78470,P78471,Q02643,Q13027,Q16406,Q8N6C4,Q9HB42,Q9HB43,Q9HB44,Q9HB45,AAI66636,NP_000814,EAL24445,BAC05924,AAC23789,EAW93973,EAW93974,EAW93975,EAW93976,EAW93977,AAB18630,AAB18631,AAB18632,AAB37758,BAB40232,AAG15368,AAG15369,AAG15370,AAG15371,AAS59864,AAA35890,AAA58619,AAD14318 Hs.767 GHRFR|GHRHRpsv|GRFR|IGHD1B GHRH receptor|GRF receptor|growth hormone-releasing hormone receptor protein-coding 730950 GHRL ghrelin/obestatin prepropeptide This gene encodes ghrelin-obestatin preproprotein, which generates ghrelin and obestatin. Ghrelin is an endogenous ligand for the growth hormone secretagogue receptor and is involved in regulating growth hormone release. Obestatin was initially reported to be an endogenous ligand for the orphan G protein-coupled receptor GPR39 and was involved in satiety and decreased food intake; however, these findings are controversial. Recent reports show that obestatin is involved in inhibiting thirst and anxiety, improving memory, regulating sleep, affecting cell proliferation, and increasing the secretion of pancreatic juice enzymes. Alternative promoters and alternative splicing result in multiple transcript variants, some of which encode different protein isoforms and some of which do not encode a protein but may regulate the ghrelin-obestatin preproprotein expression. In addition, antisense transcripts for this gene have been identified and may also function in regulation of the ghrelin-obestatin preproprotein expression. [provided by RefSeq] 1642818,2313748,2313750,2313747,2313749,2313745,2313744,704404,1625021 19913121,20586762,20602615,20628086,16394173,19193342,17596538,11549663,15292338,17113048,15039149,15531532,19491387,19453261,19424595,19419933,19397477,19385031,19369431,19367093,19352215,19339394,19337009,19327128,19324904,19318377,19289536,19262695,19246923,19213003,19199214,19198916,20172008,20339027,19863750,19955759,20553778,20595321,20734064,20920174,21047193,19845749,20338210,16754659,20382189,19797396,20367557,20376885,20472480,21113212,19913442,10604470,15350694,15232612,15576457,17494105,16491079,17392603,16511605,15572208,15158140,18329818,12566947,15564328,19191138,19165163,19160571,19154949,19139783,19120912,19112387,19106245,19100004,19077438,19073905,19059729,19058789,19057526,19054628,19049992,19041092,19031219,19028051,19022392,19011469,19004538,18996292,18996102,18992263,18987287,18979162,18973889,18945286,18848536,18831996,18828808,18809976,18797403,18728162,18714814,18703566,18700166,18697865,18677577,18665387,18663995,18636124,18622896,18611262,18602197,18595130,18588931,18584199,18567824,18563283,18561093,18552514,18550870,18547344,18534636,18510797,18492761,18480381,18466078,18461271,18452507,18450953,18448790,18425803,18419786,18416474,18404598,18401836,18401204,18398047,18397989,18380540,18375957,18362297,18350633,18343535,18325633,18308399,18299465,18283260,18280066,18274638,18271694,18271692,18250617,18249219,18246525,18239581,18239577,18205273,18198306,18182091,18178497,18166814,18075283,18071345,18070755,18070417,18064390,18055420,18051927,18049109,18001718,17992644,17992641,17957159,17957153,17952858,17952631,17949242,17923797,17893689,17890503,17884293,17884032,17869379,17766711,17727735,17719561,17717076,17711921,17709151,17689128,17688884,17667848,17666475,17652221,17646723,17635077,17616856,17616759,17609506,17601657,16322325,16322288,16284174,16210421,16207498,16204371,16204363,16198134,16191452,16189175,16188911,16187069,16182310,16181346,16131812,16108842,16014402,15998770,15998659,15972581,15956087,15955378,15894681,15890737,15863960,15855322,15824975,15820771,15795476,15786542,15775713,15758554,15752580,15745452,15699539,15688209,15657368,15648019,14530511,14527669,14521948,14514639,12975309,12974878,12931038,12907757,12892652,12887287,12851720,12829648,12824869,12739020,12732215,12727993,12727973,12727951,12679456,12679444,12679442,12663466,12656662,12606621,12576449,12553549,12547722,12531885,12519848,12519838,12477932,12429880,12414809,12364482,12364442,12181387,12161552,12161511,12153739,12133904,12107502,12107501,12091883,12050285,12050239,11815627,11788653,11724768,15604212,15585547,15579749,15538935,15522942,15522935,15489334,15476444,15472212,15382608,15340161,15292475,15292337,15292322,15292316,15256494,15254759,15248833,15248831,15248830,15231997,15192277,15181097,15181083,15181038,15142980,15132729,15126574,15126531,15117840,15090637,15075452,15070937,15070936,15070928,15070922,15057671,15057670,15057669,15052530,15001628,14962995,14871884,14764817,14763915,14724664,14715878,14715869,14681862,14671163,14671152,14614562,14602798,14602792,14585085,14559725,14551671,17595255,17587401,17562288,17556836,17551399,17544318,17543279,17530417,17495198,17449920,17436104,17405826,17389697,17347386,17344504,17336462,17324965,17317872,17317021,17311892,17289852,17280594,17258885,17201814,17197106,17187020,17184731,17167339,17138722,17119003,17079741,17074331,17068144,16979415,16959833,16957407,16954444,16954159,16949080,16942934,16929151,16929150,16921495,16868147,16865101,16839485,16793966,16759313,16735961,16734390,16720664,16718628,16606630,16601073,16563563,16552751,16549524,16538179,16527811,16483881,16476508,16472909,16459454,16423919,16420657,16391832,16384853,16363872,16341674,16340041,10461027,1619020,11502844,11314756,11306336,11227737,11196643,11159851,11158061,11089560,11061542,10930375,20466571,20509935,18616714,18624998,18667202,18976754,19039650,19054012,19261663,19262995,19282046,19325538,19393347,19406177,19408254,19433492,19491251,19521111,19560502,19587265,19589259,19601914,19617874,19628676,19665916,19666068,19670151,19705241,19770497,19773372,19811274,19834878,19841105,19876004,19884263,19885611,19888469,19899406,19914322,19916170,19952806,19965946,20004655,20010782,20096985,20145424,20150876,20152820,20164039,20180161,20185531,20188316,20194708,20379614,20453000,20468064,20517652,18577758,20537572,20963666,21040709,20157287,20616368,20298456,20421852,20503481,20411479,20581789 1642818,2313748,2313750,2313747,2313749,2313745,2313744,1625021 51738 EF549563,NM_001134944,NM_001134945,NR_024136,NR_024132,NR_024137,NR_024134,NR_024138,NR_024135,NR_024133,NM_016362,NM_001134941,NG_011560,AC022384,AF296558,AY701846,CH471055,AB029434,AB035700,AJ252278,AY184207,AY359053,BC025791,BM854032,EF139854,EF139855,EF139856,EF139857,EF549557,EF549561,EF549562,NM_001134946,EF549564,EF549565,EF549566,EF549567,EF549569,EF549571,EF549572,EF549573,EF549574,EF549575,EU072083,EU072084,EU072085,EU072086,EU072087,HC084376,HC084384 NP_001128418,NP_001128416,NP_001128417,NP_057446,NP_001128413,AAG10300,AAU93610,EAW64074,EAW64075,EAW64076,BAA89371,BAB19045,CAB65733,AAO27351,AAQ89412,AAH25791,ABQ40356,ABQ40357,ABQ40358,ABQ40359,ABQ40360,ABQ40361,ABQ40362,ABV55186,ABV55187,ABV55188,ABV55189,ABV55190,Q5Y392,Q86YP8,Q9UBU3,ABM81944,ABM85124,CBI12214,CBI12216 Hs.590080 MTLRP|obestatin OTTHUMP00000207791|OTTHUMP00000207796|appetite-regulating hormone|ghrelin precursor|ghrelin, growth hormone secretagogue receptor ligand|ghrelin/obestatin preprohormone|growth hormone secretagogue|growth hormone-releasing peptide|motilin-related peptide 2289503,2289518 BW443_H,BW454_H protein-coding 2292056 GHRLOS ghrelin opposite strand (non-protein coding) This gene is an antisense gene of the ghrelin-obestatin prepropeptide gene. Alternatively spliced transcript variants have been identified and they may function as non-coding regulatory RNA. [provided by RefSeq] 18954468,17727735 100126793 NR_004431,NR_024144,NR_024145,NR_024146,AC022384,BM991802,BX118778,EF549558,EF549559,EF549560,EF549568,EF549570,EU072081,EU072082 Hs.672979 GHRLAS|NCRNA00068 miscrna 730941 GHSR growth hormone secretagogue receptor This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. [provided by RefSeq] 1642818,1625252,1625270 19913121,20586762,20628086,18064392,17885924,17601657,17428235,17324965,17229547,17018595,16787234,16606630,16582936,16567594,16527811,16511600,16362631,16020971,15616037,15585554,15489334,15383539,15080774,15062547,14763915,14755130,14719137,14715878,14715843,14701677,12574228,12511847,12477932,12045256,11356716,11322507,11322498,11227737,10604470,9852035,9092793,601898,8688086,15232612,17494105,16511605,12890514,19165163,19088192,19077438,19058789,19056482,19024096,18945286,18828808,18698404,18647811,18573679,18426818,18425803,18375957,19262695,19453261,19487270,19506043,19670151,19782690,19789204,19876004,19887765,20150876,20164039,20185531,20201926,20346234,20404923,20453000,20468064,20881960,20599926,16754659,20616368,20920174 1642818,1625252,1625270 2693 NM_198407,NM_004122,AC069523,AF099083,AF369786,AY322544,CH471052,CS174239,AY429112,BC069068,BC069374,BC113547,U60179,U60181,NG_021159,FB660530 NP_940799,NP_004113,AAC97506,AAK71539,AAK71540,AAP84357,EAW78468,EAW78469,CAJ34548,AAR07907,AAH69068,AAH69374,AAI13548,AAC50653,AAC50654,Q92847,ADR82965,CAS01830 Hs.130212 GH-releasing peptide receptor|GHRP|GHS-R|OTTHUMP00000211093|ghrelin receptor|growth hormone secretagogue receptor type 1 protein-coding 735662 GIF gastric intrinsic factor (vitamin B synthesis) This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq] 704404,1580863 20615890,20237569,8886952,19036097,18338170,17954916,15738392,15736970,15489334,14695536,14576042,12477932,9572993,5044916,4045300,2071148 2694 NM_005142,NG_008120,AP002347,CH471076,AK301290,AK301295,AK314275,BC037958,X76562 NP_005133,EAW73860,BAG62848,BAG62853,BAG36935,AAH37958,CAA54061,P27352,ABM83395,ABM86608 Hs.110014 IF|IFMH|INF|TCN3 gastric intrinsic factor|intrinsic factor protein-coding 1320542 GIGYF1 GRB10 interacting GYF protein 1 17672918,16964243,12771153,12690205,12477932,11239002,9799793,3,16713569 64599 NM_022574,AADB02010717,AC009488,AF053356,CH236956,CH471091,AF086157,AF088067,AF289554,AY176044,BC018563,BC036595,BC129991,BQ069946 NP_072096,AAC78792,EAL23822,EAW76496,EAW76497,EAW76498,AAL55738,AAO46888,AAI29992,O75420,AAI72395 Hs.414396 GYF1|PERQ1 GRB10-interacting GYF protein 1|GYF domain containing 1|PERQ amino acid rich, with GYF domain 1|PERQ amino acid-rich with GYF domain-containing protein 1|postmeiotic segregation increased 2-like 12 protein-coding 1314368 GIGYF2 GRB10 interacting GYF protein 2 The protein encoded by this gene interacts with GRB10 and may be involved in the regulation of tyrosine kinase receptor signaling. This gene contains CAG repeats, and the encoded protein contains stretches glutamine and glutamic acid residues. Defects in this gene are a cause of Parkinson disease type 11 (PARK11). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 16120600,19482505,19429085,19348706,19321232,19279319,19250854,19133664,19117363,18923002,18358451,17081983,15489334,15302935,14702039,12771153,12477932,12168954,9734811,9225980,8889549,12638082,19449032,19562763,19615732,19638301,19845746,20004041,20044296,20060621,20178831,20379614,20685231,20816920,20641165,20696395,20936779 26058 NM_015575,NM_001103146,NM_001103148,NG_011847,AC016692,AC064852,CH471063,AB014542,AK001739,AK027021,AK297162,AK299418,AK302998,AY176045,BC008072,BC012484,BC014047,BC029456,BC043402,BC053684,BC093090,BC108691,BC136251,BC143352,BC146775,BE220828,BG527686,BX537885,NM_001103147,BX538321,BX647172,BX647505,DC346582,BX538172 NP_001096617,NP_001096616,NP_001096618,EAW71016,EAW71017,EAW71018,EAW71020,BAA31617,BAA91873,BAG59659,BAG61400,BAG64133,AAO46889,AAH08072,AAI36252,AAI46776,CAD97881,CAD98095,Q6Y7W6,ACE87189,ACE87193,ACE86508,ACE86512,NP_056390 Hs.565319 DKFZp686I15154|DKFZp686J17223|FLJ23368|GYF2|KIAA0642|PARK11|PERQ2|PERQ3|TNRC15 GRB10-interacting GYF protein 2|GYF domain containing 2|OTTHUMP00000203484|OTTHUMP00000203486|OTTHUMP00000203489|PERQ amino acid rich, with GYF domain 2|PERQ amino acid rich, with GYF domain 3|PERQ amino acid-rich with GYF domain-containing protein 2|trinucleotide repeat containing 15|trinucleotide repeat-containing gene 15 protein protein-coding 1350070 GIMAP1 GTPase, IMAP family member 1 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq] 1303371 16344560,20194894,18701445,15489334,15474311,14702039,12690205,12477932,11814688 1303371 170575 AW029312,CR612038,DA817535,NM_130759,AACC02000108,AC006479,CH471173,AK091818,AJ306287,AK315127,BC040736 NP_570115,EAL24485,EAW54095,BAC03754,CAC83740,BAG37580,AAH40736,Q8WWP7 Hs.662802,Hs.692043,Hs.647087 HIMAP1|IMAP1|IMAP38 GTPase IMAP family member 1|immunity associated protein 1|immunity-associated protein 1 protein-coding 1346525 GIMAP2 GTPase, IMAP family member 2 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq] 1303371,1580863 20516611,15489334,15474311,12690205,12477932,11814688,17207965,20237496 1303371 26157 NM_015660,AACC02000108,AC006479,CH471173,AK074199,AL110151,BC013934,BC032345,BG687383,CR603143,CR616610 NP_056475,EAL24484,EAW54096,EAW54097,EAW54098,EAW54099,CAB53662,AAH13934,AAH32345,Q9UG22,ADQ31716 Hs.647071 DKFZp586D0824|HIMAP2|IMAP2|MGC24275 GTPase IMAP family member 2|immunity associated protein 2|immunity-associated protein 2 protein-coding 1349380 GIMAP3P GTPase, IMAP family member 3 pseudogene 1303371 15474311 1303371 474345 NG_004727,AC006479,AJ580951,NG_026525 GIMAP3 pseudo 1351937 GIMAP4 GTPase, IMAP family member 4 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq] 1303371,1580863 18701445,16509771,15489334,15474311,14702039,12690205,12477932,11964296,11814688,10737800,9828130,17207965,20237496 1303371 55303 NM_018326,AACC02000108,AC069304,CH471173,CQ834256,AF117333,AJ227872,AK001972,AK301441,AK301606,AW836736,BC020657,BC020776,BX476689,CR615293,CR620018 NP_060796,EAL24482,EAW54103,EAW54104,CAH05343,AAO15308,BAA92010,BAG62967,BAG63092,AAH20657,Q9NUV9,ADQ32175 Hs.647101,Hs.648582 FLJ11110|HIMAP4|IAN1|IMAP4|MSTP062|hIAN1 GTPase IMAP family member 4|IAN-1|OTTHUMP00000212212|human immune associated nucleotide 1|immunity associated protein 4|immunity-associated nucleotide 1 protein|immunity-associated protein 4 protein-coding 1349853 GIMAP5 GTPase, IMAP family member 5 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq] 619544 20817506,17641683,17369194,17220214,15489334,15474311,14724691,14702039,12925764,12690205,12477932,11964296,11814688,11238997,19762377,20190135,20237496 619544 55340 NM_018384,AACC02000108,AC006479,AL080068,CH471173,AK002158,AK055568,AK297881,AL557446,AV762634,BC011732,BC033688,CR457280,CR594570,CR594804,CR609182,CR609908,CR611454,CR613837,CR614401,CR621072,CR624545,CA431916,CR597389 NP_060854,EAL24486,EAW54092,EAW54093,EAW54094,BAA92115,BAB70958,BAG60204,AAH11732,CAG33561,Q96F15 Hs.647079 FLJ11296|HIMAP3|IAN-5|IAN4|IAN4L1|IAN5|IMAP3|IROD|hIAN5 GTPase IMAP family member 5|IAN-5|immune associated nucleotide 4 like 1|immunity associated protein 3|immunity-associated nucleotide 4-like 1 protein|immunity-associated nucleotide 5 protein|immunity-associated protein 3|inhibitor of radiation- and OA-induced apoptosis, Irod/Ian5 protein-coding 1603796 GIMAP6 GTPase, IMAP family member 6 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, IAN subfamily genes are located in a cluster at 7q36.1. Two transcript variants, one protein-coding and the other probably non-protein-coding, have been found for this gene. [provided by RefSeq] 20237496,16344560,15474311,14702039,12690205,12477932,11964296,11814688 474344 NM_024711,NR_024115,AACC02000108,AC069304,CH471173,AJ580952,AK026343,AK026396,AK074044,AK294989,AK300445,AK308110,AK314667,AL541003,BC060760,BC069461,BC074744,CR611173,CR749355,DA398401 NP_078987,EAL24483,EAW54101,EAW54102,CAE45757,BAB15455,BAB84870,BAG58056,BAG62167,BAG37224,AAH60760,AAH74744,EAW54100,CAH18208,Q6P9H5,Q8TES8 Hs.647105 DKFZp686A01175|FLJ22690|IAN6|hIAN2 GTPase IMAP family member 6|IAN-2|IAN-6|OTTHUMP00000214149|hIAN6|human immune associated nucleotide 2|immune associated nucleotide 2|immune associated nucleotide 6|immunity-associated nucleotide 2 protein|immunity-associated nucleotide 6 protein protein-coding 1343694 GIMAP7 GTPase, IMAP family member 7 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq] 1303371,1580863 15489334,15474311,12690205,12477932,11964296,11814688,20237496 1303371 168537 NM_153236,AACC02000108,AC069304,AC092025,CH471173,AA854865,BC006010,BC027613,BX440511,CR603844,CR622508 NP_694968,EAL24481,EAW54105,EAW54106,AAH27613,Q8NHV1,ABM81865,ABW03335 Hs.647074 IAN7|MGC27027|hIAN7 GTPase IMAP family member 7|IAN-7|immune associated nucleotide|immunity-associated nucleotide 7 protein protein-coding 1344762 GIMAP8 GTPase, IMAP family member 8 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq] 1303371,1580863 20237496,20379614,16103028,15474311,14702039,12690205,12477932,11964296,11814688 1303371 155038 NM_175571,AACC02000108,AC073111,CH471173,AJ633686,AK057969,AK098320,AK314426,AL834361,AW236696,BC107037,BM906208 NP_783161,EAL24479,EAW54107,EAW54108,CAG17881,CAD39025,AAI07038,Q8ND71 Hs.647121 DKFZp667I133|IAN-9|IAN6|IANT|MGC129545|hIAN6 GTPase IMAP family member 8|IAN-9|human immune associated nucleotide 6|immune associated nucleotide|immune-associated nucleotide-binding protein 9|protein IanT protein-coding 1603218 GIN1 gypsy retrotransposon integrase 1 16344560,16189514,12477932,11470852,9373149,8125298,20379614 54826 CH471086,AK000132,AK225572,AK295796,BC015325,BC151135,BC157835,CR621255,CR627424,DB101499,NM_017676,AC008447 EAW49080,EAW49081,BAA90963,BAG58616,AAH15325,AAI51136,AAI57836,CAH10511,Q9NXP7,NP_060146 Hs.24088 FLJ20125|GIN-1|TGIN1|ZH2C2 Ty3/Gypsy integrase 1|gypsy integrase 1|gypsy retrotransposon integrase-like protein 1|zinc finger H2C2 domain-containing protein|zinc finger, H2C2 domain containing protein-coding 1348237 GINGF2 gingival fibromatosis, hereditary, 2 11386754 64644 1605108 GINS1 GINS complex subunit 1 (Psf1 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM] 10942595,17417653,17127213,16287864,15489334,12477932,11780052,8724849,20103637 9837 NM_021067,AL031672,AL353812,CH471133,AK294593,BC012542,D80008 NP_066545,CAI43019,CAI13764,EAX10087,BAG57781,AAH12542,BAA11503,Q14691 Hs.658464 KIAA0186|PSF1|RP4-691N24.2 DNA replication complex GINS protein PSF1|partner of sld five-1 protein-coding 1602113 GINS2 GINS complex subunit 2 (Psf2 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM] 17525332,16189514,15489334,14702039,12730134,12477932,11042152,10810093,9373149,8125298,17207965 51659 NM_016095,AC123908,CH471114,AF125098,AF151880,AF201939,AK001275,AK091519,AK223123,BC003186,BC010164,BC022839,BC062444,BE514978,CR457186,CR592948,CR595781,CR600014,CR601771,CR618457,HB868338,HB885265,HB889301,HB900781,HC925747,HC942674,HC946710,HC958190 NP_057179,EAW95443,EAW95444,AAD39915,AAD34117,AAF86875,BAA91595,BAD96843,AAH03186,AAH10164,AAH62444,CAG33467,Q53G08,Q9Y248,ADQ31670,CBF58147,CBF66838,CBF68783,CBF79669,CBU83582,CBU91711,CBU93657,CBU99138 Hs.433180 HSPC037|PSF2|Pfs2 DNA replication complex GINS protein PSF2 protein-coding 1604313 GINS3 GINS complex subunit 3 (Psf3 homolog) This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 19305408,17652513,17557111,17545466,17417653,17170760,17127213,16990792,16344560,15342556,14702039,12730134,12477932,19652097,20059967 64785 NM_001126129,NM_022770,NM_001126130,AC009118,CH471092,AK023974,AK127454,AK315622,AL137379,BC005879,BC014437,BP374281,CR457283,CR604342,CR611482,CR613063,CR614103,DA550725 NP_001119601,NP_073607,NP_001119602,EAW82973,EAW82974,EAW82975,EAW82976,BAB14747,BAG37990,AAH05879,AAH14437,CAG33564,Q9BRX5 Hs.605546,Hs.47125 FLJ13912|PSF3 DNA replication complex GINS protein PSF3 protein-coding 1601940 GINS4 GINS complex subunit 4 (Sld5 homolog) The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM] 17417653,16189514,14702039,12477932 84296 NM_032336,AC009630,CH471080,AK095334,AK299207,AK313373,BC005995,BC027454,CR614079,DC376966 NP_115712,EAW63256,EAW63257,BAG53029,BAG61247,BAG36172,AAH05995,AAH27454,Q9BRT9 Hs.656996 MGC14799|SLD5 DNA replication complex GINS protein SLD5|SLD5 homolog protein-coding 1353884 GIP gastric inhibitory polypeptide This gene encodes an incretin hormone and belongs to the glucagon superfamily. The encoded protein is important in maintaining glucose homeostasis as it is a potent stimulator of insulin secretion from pancreatic beta-cells following food ingestion and nutrient absorption. This gene stimulates insulin secretion via its G protein-coupled receptor activation of adenylyl cyclase and other signal transduction pathways. It is a relatively poor inhibitor of gastric acid secretion. [provided by RefSeq] 1580863,2312547,2312548,2312549,2312588,2312587,2312591,2312529,2312592,2312551,2312550,2312553,2312589,2312590,2312554 17609256,17244606,16142014,16010522,15955806,15899957,15655707,15533777,15522230,15489334,15383372,15220248,14988249,12627975,12530694,12530693,12477932,12138104,11820780,8795084,7589426,6745415,2739653,20799012,20200305,20673334,12036966,2890159,19351807,18593849,18054552,17624916,18240029,19229515,19748889,20008019,20061446,20138041,20424473,20468064,17207965,20800603,20595579,20580750 2312547,2312548,2312549,2312588,2312587,2312591,2312529,2312592,2312551,2312550,2312553,2312589,2312590,2312554 2695 NM_004123,AC091133,CH471109,M31679,BC069100,BC069663,BC069686,BC069746,BC096146,BC096147,BC096148,BC096149,M18185,E02006 NP_004114,EAW94697,AAA53192,AAH69100,AAH69663,AAH69686,AAH69746,AAH96146,AAH96147,AAH96148,AAH96149,AAA88043,P09681,ADQ32948 Hs.1454 gastric inhibitory polypeptide|glucose-dependent insulinotropic polypeptide protein-coding 733913 GIPC1 GIPC PDZ domain containing family, member 1 GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM] 68252,1580863 14499480,15459234,9770488,12857860,19016655,18775991,18721486,18721484,18314626,16962991,16240642,16225848,15767424,15489334,15356268,15304335,15231747,14702039,14507927,12893809,12724327,12477932,12011974,11956658,11912251,11852236,11798178,11546783,11479315,11445579,11441007,11251075,10965131,10911369,10827173,10414980,10318831,10198040,9482110,8986788,8895530,12508107,17353931,15819698,19913121,20628086,20634288,14617818,15978582,16316992,16908842,19855435,20091192,16341674 68252 10755 NM_202470,NM_202469,NM_202468,NM_202467,NM_005716,AC008569,AC012318,CH471106,AF028824,AF089816,AI589363,AK022585,AK093820,AK290252,AK290948,BC000410,BC004226,BC012810,NM_202494,BC016169,BI489862,BM764000,BX439219,CB997520,CR597402,CR601609,CR608331,CR614936,CR621243,CR625332,U46448 NP_974223,NP_974199,NP_974198,NP_974197,NP_974196,NP_005707,EAW84423,EAW84424,EAW84425,EAW84426,EAW84427,EAW84428,EAW84429,EAW84430,EAW84431,AAB84249,AAC67548,BAF82941,BAF83637,AAH00410,AAH04226,AAH12810,AAH16169,O14908,ABM85465 Hs.655012 C19orf3|GIPC|GLUT1CBP|Hs.6454|IIP-1|MGC15889|MGC3774|NIP|RGS19IP1|SEMCAP|SYNECTIIN|SYNECTIN|TIP-2 GAIP C-terminus-interacting protein|GLUT1 C-terminal binding protein|IGF-1 receptor interacting protein 1|PDZ domain-containing protein GIPC1|RGS-GAIP-interacting protein|RGS19-interacting protein 1|regulator of G-protein signalling 19 interacting protein 1|regulator of g-protein signaling 19 interacting protein 1|tax interaction protein 2 protein-coding 1603220 GIPC2 GIPC PDZ domain containing family, member 2 18978678,16169070,15489334,14702039,12477932,12011974,11836570,9373149,8125298,17207965 54810 NM_017655,AC093118,AC103591,CH471059,AB073737,AK000082,AK225941,AK307422,BC036075,BI561167 NP_060125,EAX06353,BAB84711,BAA90933,AAH36075,Q8TF65,ADQ32324 Hs.659356 FLJ20075|SEMCAP-2|SEMCAP2 PDZ domain protein GIPC2|PDZ domain-containing protein GIPC2|semaF cytoplasmic domain associated protein 2|semaphorin cytoplasmic domain associated protein 2 protein-coding 1606469 GIPC3 GIPC PDZ domain containing family, member 3 18950845,17525332,15489334,15057824,14702039,12477932,12011974,11836571 126326 NM_133261,AC005175,AC116968,CH471139,AB073738,AK098244,BC117312,BC117314,BX648927 NP_573568,AAC24304,EAW69304,BAB84712,AAI17313,AAI17315,Q8TF64 Hs.266873 C19orf64|DKFZp686J1198|FLJ40925 PDZ domain protein GIPC3|PDZ domain-containing protein GIPC3 protein-coding 732777 GIPR gastric inhibitory polypeptide receptor Gastric inhibitory polypeptide (GIP; MIM 137240), also called glucose-dependent insulinotropic polypeptide, is a 42-amino acid polypeptide synthesized by K cells of the duodenum and small intestine. It was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release potently in the presence of elevated glucose. The insulinotropic effect on pancreatic islet beta-cells was then recognized to be the principal physiologic action of GIP. Together with glucagon-like peptide-1, GIP is largely responsible for the secretion of insulin after eating. It is involved in several other facets of the anabolic response.[supplied by OMIM] 2312618,2312617,2312454,2312603,2312548,2312605,2312615,2312616,2306734,737714,737713,1580863,68929 10698200,20799012,20935630,12036966,7589426,7556958,19386626,19254363,19211686,19195718,18971217,17624916,17395281,17121608,16087722,15666829,15655707,15489334,15111503,15057824,12721154,12627975,12530694,12530665,12477932,10698169,9709947,8795084,8575774,8243312,7490109,17505054,18240029,20061446,20081857,20185807,20424473,20516203,18577758 2312618,2312617,2312454,2312603,2312548,2312605,2312615,2312616,2306734,737714,737713,68929 2696 NM_000164,AC006132,AC007191,CH471126,D49559,BC093723,BC095494,BC101673,BC143300,BC143302,S79852,U39231 NP_000155,AAC97984,AAD22674,EAW57371,EAW57372,BAA08503,AAH93723,AAH95494,AAI01674,AAI43301,AAB35419,AAA84418,P48546,Q4VBP1 Hs.658534 MGC126722|PGQTL2 GIP-R|gastric inhibitory peptide receptor|gastric inhibitory polypeptide receptor|glucose-dependent insulinotropic polypeptide receptor protein-coding 732720 GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 68782,1580863 15383276,17353931,9826657,18029348,19494130,19303398,19023093,18211801,17562871,17467235,17429073,17081983,16825424,16598076,15951569,15923189,15592455,15489334,15302935,15016733,14702039,14523024,12695502,12629171,12522103,12477932,12473661,12153727,11896197,11381105,10938112,10896954,8889548,10428811,16169070,12923177,15793570,20677014,15182672,15324660,16628223,19041750,19923322,19947948 68782 28964 NM_001085454,AC104564,CH471159,AB209537,AF124490,AK000863,AK024826,AK294785,AK297443,AK299615,AK299932,BC001369,BC005031,BC006227,BC018998,BC032098,BC048196,NM_014030,BC067358,BM984210,BQ424386,BX537553,BX537554,BX648097,CF994106,CR605395,DR001908 NP_054749,NP_001078923,EAW51196,EAW51197,BAD92774,AAD28046,BAG57910,BAG59869,BAG61543,BAG61765,AAH05031,AAH06227,AAH32098,AAH48196,CAD97779,CAD97780,Q59FC3,Q6PIN6,Q7Z2E5,Q9BSI3,Q9Y2X7 Hs.514051 ARF GAP GIT1|ARF GTPase-activating protein GIT1|CAT-1|CAT1|G protein-coupled receptor kinase interactor 1|G protein-coupled receptor kinase-interactor 1|GRK-interacting protein 1|cool-associated and tyrosine-phosphorylated protein 1 protein-coding 1345420 GIT2 G protein-coupled receptor kinase interacting ArfGAP 2 This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq] 68782,1580863 17353931,10896954,10942595,17567985,17081983,16628223,16598076,16501306,15592455,15489334,15324660,15212761,15144186,14702039,12477932,12473661,12168954,11251077,11157752,10788515,10428811,10330411,9826657,9373149,8590280,8125298,20694148 68782 9815 NM_014776,NM_057169,NM_057170,NM_139201,NM_001135213,NM_001135214,AC084876,CH471054,AB451294,AB451428,AF124491,AK057814,AK090652,AK091325,AK125441,AK222736,AK303198,AK304240,AK308304,BC001379,BC014223,BC039880,BM557270,BP871813,BT007312,CR533568,CR592552,CR598981,CR619699,CR619794,CR749340,D63482 NP_055591,NP_476510,NP_476511,NP_631940,NP_001128685,NP_001128686,EAW97885,EAW97886,EAW97887,EAW97888,EAW97889,EAW97890,BAG70108,BAG70242,AAD28047,BAD96456,BAG64289,BAG65109,AAH01379,AAH14223,AAP35976,CAG38599,CAH18193,Q68DM7,BAA09769,Q14161,Q6FI58 Hs.434996 CAT-2|CAT2|DKFZp686G01261|KIAA0148|MGC760 ARF GAP GIT2|ARF GTPase-activating protein GIT2|G protein-coupled receptor kinase interactor 2|G protein-coupled receptor kinase-interactor 2|GRK-interacting protein 2|cool-associated, tyrosine phosphorylated protein 2|cool-interacting tyrosine-phosphorylated protein 2 protein-coding 1603444 GIYD1 GIY-YIG domain containing 1 A segmental duplication of the p arm of chromosome 16 created two identical copies of the GIY-YIG domain containing gene, this record represents the more centromeric copy. Exons of this gene overlap with exons of the phenol-preferring sulfotransferase (SULT1A3) gene. Two transcript variants that encode different protein isoforms have been identified through sequence analysis. [provided by RefSeq] 12107412,19595721,19595722,19596235,19596236,15489334,15358107,12477932 548593 AI885276,BI757439,CD673028,NM_001014999,NM_001015000,NG_005305,AC106782,AC133555,BC144462 NP_001014999,NP_001015000,AAI44463,Q9BQ83,AAI41498,AAI48778 Hs.460558,Hs.727513 GIYD1|GIYD2|SLX1B GIY-YIG domain containing 1|GIY-YIG domain-containing protein 1|structure-specific endonuclease subunit SLX1 protein-coding 1604303 GIYD2 GIY-YIG domain containing 2 A segmental duplication of the p arm of chromosome 16 created two identical copies of the GIY-YIG domain containing gene, this record represents the more telomeric copy. Exons of this gene overlap with exons of the phenol-preferring sulfotransferase (SULT1A4) gene. Two transcript variants that encode different protein isoforms have been identified through sequence analysis. [provided by RefSeq] 19595722,19596236,19595721,15358107,12477932,9373149,8125298,19596235 79008 NM_024044,NM_178044,NG_005304,AC133555,AK027092,AK225436,BC000754,BC000803,BC015990,BC019306,BC069007,BC130545,BC130547,CR592624,CR597573,CR599120,CR604965,CR605240,CR606532,CR608222,CR611003,CR613197,CR617039 NP_076949,NP_835145,BAB15654,AAH00754,AAH00803,AAH15990,AAH19306,AAH69007,AAI30546,AAI30548,Q9BQ83,Q9H5H2 Hs.460558 FLJ23439|GIYD1|GIYD2|MGC2532|MGC5178|SLX1A GIY-YIG domain containing 2|GIY-YIG domain-containing protein 1|structure-specific endonuclease subunit SLX1 protein-coding 736925 GJA1 gap junction protein, alpha 1, 43kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations. [provided by RefSeq] 1582666,1582667,1582668,1580863,1580398,704404 19913121,20593197,20628086,20634891,20639392,20668687,20346202,20651379,11031247,18662195,12506110,12907686,19490996,19396169,19297523,19174466,19084810,19056535,19027966,19001515,18988928,18951659,18946008,18839320,18823947,18687515,18675253,18660473,18647409,18636092,18600256,18464913,18445604,18435417,18412120,18405916,18297686,18269311,18267319,18193170,18162583,18162455,18161618,18089569,18085635,18079109,18068673,18056766,18047584,17922338,17901047,17898133,17895291,17885214,17878326,17760848,17687502,17624368,17572641,17551925,17541973,17486593,17420259,17401374,17275998,17259707,17189315,17183550,17143533,17072341,20233983,20413811,16944923,17708781,18396685,18425059,19321666,19423654,19460861,19544087,19556520,19615768,19679555,19706598,19710532,19716642,19726320,19808103,19808665,19820388,19847613,19854014,19860828,19883623,19910046,19935872,20038810,20086016,20117462,20130915,20137634,20167932,20347265,20406988,20606116,1696265,12761501,7715640,15709751,12149451,1850831,11124251,11273731,11035005,10871288,10792506,10764404,10679481,10581143,10331943,9707407,9535909,9535905,9443444,9430691,9373149,9278444,9155619,8873667,8798588,8631994,8389684,8125298,8028021,1646158,11470490,16886200,16823880,16820904,16820096,16816024,16741927,16684925,16677845,16675599,16674815,16647893,16638984,16580773,16480955,16442184,16424398,16407179,16378922,16361362,16319124,16958087,16891658,16219735,16112082,16103109,16010294,15987459,15979566,15978203,15948121,15944608,15870276,15817491,15704645,15576650,15551259,15534005,15489334,15334670,15181016,15140236,15108203,14974090,14766937,14729836,14713573,14702389,14681024,14667880,14639017,14519646,13130072,12881039,12861055,12840075,12804600,12767974,12730291,12717835,12644583,12637502,12619876,12619863,12489165,12484567,12477932,12457340,12452056,12417300,12397213,12270943,12205082,12203365,12064631,12064622,12064615,12042301,12019157,12003820,11980479,11815667,11746825,11741942,11741837,11739633,11557558,11514593,19321193,20375327,20512920,20512937,20684953,20881238,20940304 1582666,1582667,1582668,1580398 2697 NM_000165,NG_008308,AF151980,AL139098,CH471051,U64573,AK223289,AK294670,AK295460,AK297761,AK297764,AK309377,AK309490,AK312324,BC026329,CR541660,CR593006,M65188,X52947 NP_000156,AAD37802,CAI20002,EAW48178,BAD97009,BAG57837,BAG58393,BAG60109,BAG60112,BAG35246,AAH26329,CAG46461,AAA52131,CAA37122,P17302,Q53FJ6,ABM84575,ABM86537 Hs.74471 CX43|DFNB38|GJAL|HSS|ODDD connexin 43|connexin-43|gap junction 43 kDa heart protein|gap junction alpha-1 protein|gap junction membrane channel protein alpha 1|gap junction protein, alpha-like protein-coding 1603289 GJA10 gap junction protein, alpha 10, 62kDa Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 12881038,19773279 84694 NM_032602,AJ414565,AL353692,CH471051,AF296766 NP_115991,CAC93847,CAI16242,EAW48537,AAK51676,Q969M2,AAI40394,AAI46475 Hs.334499 CX62|RP11-63K6.6 connexin 62|connexin-62|gap junction alpha-10 protein protein-coding 1352663 GJA1P1 gap junction protein, alpha 1, 43kDa pseudogene 1 11741837,1646158 2698 NG_003029,AC010228,M65189 gap junction protein, alpha 1, 43kda (connexin 43) pseudogene 1 pseudo 1351768 GJA2 gap junction protein, alpha 2, 38kDa (connexin 38) 2699 1349664 GJA3 gap junction protein, alpha 3, 46kDa 1599824,1580863 11739633,10746562,9664032,9199569,7342922,1964417,1849321,20013805,12808044,12477932,11980479,9413992,10205266,17893674,17615540,17492548,16971895,16885921,16254549,15489334,15467523,15286166,15208569,15057823,14627959,20431721 1599824 2700 NG_016399,NM_021954,AF075290,AL138688,CH471075,BC121137,BF726530,DR003755 CAC16957,NP_068773,AAD42925,EAX08251,AAI21138,Q9Y6H8 Hs.130313 CX46|CZP3 connexin 46|connexin-46|gap junction alpha-3 protein|gap junction protein, alpha 3, 46kda (connexin 46) protein-coding 731518 GJA4 gap junction protein, alpha 4, 37kDa This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq] 1580400,1580863,1626626,1626615,1626412,1580398 19407064,19478091,19578796,20081116,20142115,20452482,7680674,19420105,19282863,19166859,19056482,19023099,18724972,18664489,18605953,18073482,17975119,17922338,17785925,17719307,17531234,17418016,17318613,17196598,16998253,16710414,16677656,16361362,15982495,15504903,15489334,15481066,15234427,15194487,15167446,14667880,12477941,12477932,11744143,11375929,10728596,10447790,9843209,9617570,9546360,9020357,8761439,8586454,2167375,1964417,1688855,1370487,20673868,17207965,20705954,20959880,21044781 1580400,1626626,1626615,1626412,1580398 2701 NM_002060,AF132674,AF139100,AF139101,AF139102,AF139103,AF139104,AF139105,AL121988,CH471059,AF180815,AF181620,AK291563,AU103361,BC027889,BC072389,M96789 NP_002051,AAF62342,AAD31869,AAD31870,AAD31871,AAD31872,AAD31873,AAD31874,CAB90268,CAI20290,EAX07440,EAX07441,AAD56533,AAD56940,BAF84252,AAH27889,AAH72389,AAA52558,P35212,Q5JW71,Q9UBA9,ABM92225,ADQ31997 Hs.296310 CX37 OTTHUMP00000004182|connexin 37|connexin-37|gap junction alpha-4 protein|gap junction membrane channel protein alpha 4 protein-coding 736164 GJA5 gap junction protein, alpha 5, 40kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq] 1580393,1580398,1580863,704404 19913121,20628086,20650941,10728420,10581143,10336839,9617570,9523149,9119381,8561862,7877871,1964417,1310450,20831043,21076161,7966354,19494781,17546509,17189315,16814413,16790700,16710414,16646598,16600287,16545451,16508580,16361362,16189514,16188595,15489334,15297374,19490996,17922338,15193866,15117819,15094345,14766937,12594044,12477932,12435353,12397213,12064615,11557558,10873295,10792506,19808665 1580393,1580398 2702 NM_005266,NM_181703,NG_009369,AF151979,AL365260,CH471223,L34954,U03486,AF074995,BC013313,BQ231177,BT019415,BT019416,CR592992 NP_005257,NP_859054,AAD37801,CAI14124,CAI14125,EAW50929,EAW50930,AAA91833,AAA60457,AAH13313,AAV38222,AAV38223,P36382,ABM82815,ABM86001 Hs.447968 CX40|MGC11185 OTTHUMP00000015905|OTTHUMP00000015906|connexin 40|connexin-40|gap junction alpha-5 protein|gap junction membrane channel protein alpha 5 protein-coding 2291775 GJA6P gap junction protein, alpha 6, pseudogene 15611570 100126825 NG_007152,Z92542 pseudo 732563 GJA8 gap junction protein, alpha 8, 50kDa 1580863,1598963,704409 20582632,12107413,19684000,19756179,20019893,8889548,20806042,20597646,7796604,9497259,18587493,18483562,18334966,18334946,18247306,18006672,17724170,17601931,17412882,16740131,16604058,16397066,15696487,12808044,11944087,11023900,9664032,9479004,8549164,1491428,396131,17546509 1598963,704409 2703 BQ184886,CD674975,DB476698,NG_016242,NM_005267,AF217524,AL445591,CH471223,U34802,AI364417 NP_005258,AAF32309,CAH72387,EAW50926,AAA77062,P48165,AAI40364,AAI46508 Hs.632441 CAE|CAE1|CX50|CZP1|MP70 OTTHUMP00000025757|cell surface glycoprotein|connexin 50|connexin-50|gap junction alpha-8 protein|gap junction membrane channel protein alpha 8|gap junction membrane channel protein alpha-8|lens fiber protein MP70|lens intrinsic membrane protein MP70 protein-coding 1353099 GJA9 gap junction protein, alpha 9, 59kDa Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 1580863 15489334,12881038,12477932,8889548,11941580,20979653,20379614 81025 AK312811,NM_030772,AF179597,AL139260,CH471059,AF271261,BI463634,BU689816,AL705384 NP_110399,AAG09406,CAI23051,EAX07289,AAK55516,BAG35669,P57773 Hs.632402 CX58|CX59|GJA10|MGC50985 OTTHUMP00000000542|connexin 59|connexin-58|connexin-59|gap junction alpha 10|gap junction alpha-10 protein|gap junction alpha-9 protein protein-coding 732555 GJB1 gap junction protein, beta 1, 32kDa This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 704404,1580863 18396685,19335535,19550132,19686581,19691535,19883623,20039784,20128140,20133984,20137634,8390988,8162049,8004109,7833935,7477983,2460334,1674715,1319395,1318266,125246,11980479,7971964,16712791,11031247,20532933,21104867,12477701,12460545,12402337,12362307,12325071,12207932,12205082,12111842,11891346,11835375,11723288,11571214,11562788,11545686,11438991,11437164,11393532,11295246,11180613,11140841,11030070,11024208,10938190,10923043,10894999,10873293,10852921,10737979,10732813,10586284,10581193,10234007,10220155,9888385,9856562,9818870,9633821,9592087,9469569,9401007,9361298,9272161,9187667,9099841,9018031,8990008,8956046,9184217,8266101,2875078,19523148,19448103,19369543,19297523,19265674,19259128,19062535,18949782,18717720,18714809,18676375,18379723,18372303,18353664,18292829,18267319,18058801,17714866,17646144,17620124,17569045,17565422,17546509,17372902,17353473,17200131,17052905,16790356,16373087,16344560,16096811,16079393,15947997,15852376,15782139,15704645,15703409,15685554,15508871,15489334,15470753,15468313,15383278,15334670,15241803,15192806,15006706,14960772,14688024,14663144,14627639,12849984,12775342,12717835,12707076,12542510,12536289,12497641,12477932,8889588,8889549,8842374,8829637,8807343,8757034,8737658,8733054,8698335,8628473,8567789,20628624,20730878,20209499 2705 X04325,NM_001097642,NM_000166,NG_008357,AL590762,CH471132,L47127,S83322,S83323,AA041403,AK313474,BC002805,BC022426,BC039198,BI764356,BT019329,CB155778,DA081668,DA262106 CAA27856,P08034,ABM84441,ABM87493,NP_001091111,NP_000157,EAX05305,EAX05306,AAA75086,BAG36259,AAH02805,AAH22426,AAH39198,AAV38136 Hs.333303 CMTX|CMTX1|CX32 GAP junction 28 kDa liver protein|OTTHUMP00000023505|connexin 32|connexin-32|gap junction beta-1 protein|gap junction membrane channel protein beta 1 protein-coding 1351211 GJB2 gap junction protein, beta 2, 26kDa This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq] 1580863 20583176,11031247,20565955,20372813,20376804,20073550,20441744,20442751,20812880,20835527,20842950,20931531,20953187,20954238,20956747,21042228,21055240,20609484,20736419,12522692,12522556,12505163,12501766,12497637,12490065,12484567,12477932,12420583,12417772,12393046,12384781,12384501,12372058,12239718,12212857,12189493,12189487,12176179,12176036,12174613,12172394,12172392,12169891,12167443,12121355,12112666,12111646,12110573,12107817,12081719,12072059,12068628,12064630,12064627,12042301,11980479,11977173,11968091,11960582,11935342,11912510,11896458,11872644,11872627,11846738,11788203,11748849,11668644,11603757,11587277,11584050,11556849,11493200,11483639,11445873,11439000,11438992,11432967,11409864,11386851,11354642,11313763,11313751,11298683,11216657,11162081,11134236,11076062,11074495,11073548,10982182,10982180,10830906,10807696,10757647,10713833,10633135,10633133,10607953,10422812,10376574,10369869,10218527,9856479,9819448,9620796,9600457,9592087,9529365,9471561,9422505,9373149,9358053,16425640,16407179,16406239,16380907,16379542,16379178,16371502,16344560,16283880,16258398,16243461,16226720,16222667,16158474,16154643,16125251,16088916,16012344,15996220,15967879,15964725,15954104,15932734,15895291,15878206,15870276,15858675,15857852,15857182,15855033,15841999,1324944,9139825,9482292,11719551,19587431,19586875,19558853,19558834,19523148,19491791,19475720,19465004,19371219,19366456,19350503,19340074,19338775,19326169,19254696,19239084,19235794,19190252,19173109,19157576,19125024,19072567,19051073,19050930,19043807,19027966,19027181,19008837,18990456,18988928,18987669,18985073,18983339,18952066,18951659,18950394,18941476,18925674,18843290,18821568,18809214,18787097,18776652,18762573,18758381,18688874,18684989,18668259,18649181,18607988,18585793,18580690,18570691,18570126,18560174,18554165,18519234,18484607,18472371,18454068,18412859,18411733,18368581,18353197,18338563,18324688,18316665,18300439,18294064,18294049,18288393,18274916,18267319,18261328,18245526,18196482,18191019,18167282,18089569,18075246,18024254,17993581,17989577,17949297,17935238,17909436,17903576,17786286,17695503,17672988,17672987,17666888,17661817,17660464,17615163,17614106,17581693,17568408,17567889,17567887,17553572,17551008,17505205,17485979,17455295,17444514,17431919,17428836,17428550,17426645,17406097,17394388,17381453,17369171,17368814,17365058,17357124,17313762,17299707,17290388,17276518,17253936,17227765,17203385,17041943,17041897,17036313,17029193,16877344,16849369,16840571,16777986,16773579,16713631,16650419,16647893,16570074,16532460,15832357,15793769,15770735,15744158,15704645,15700112,15670746,15666300,15656949,15638823,15635064,15633193,15617546,15592461,15577772,15547683,15547423,15547422,15504600,15502644,15489334,15482471,15479191,15464308,15464305,15386363,15365987,15359540,15345117,15337980,15334670,15288505,15274422,15253766,15242756,15236885,15226564,15219044,15148174,15146474,15140236,15138772,15113126,15064611,15057823,15033936,15025729,14985372,14979964,14978038,14759569,14735592,14722929,14719096,14700667,14694360,14681046,14681041,14660916,14643477,14595769,14556203,14534413,14520102,14505035,12925341,12904681,12865758,12851846,12844145,12835856,12833397,12810983,12792423,12786758,12768774,12767933,12752120,12746422,12701741,12684873,12668604,12624506,12560944,12557263,12548749,12530196,12527132,9336442,9328482,8978770,8136828,8125298,7881423,7829101,2956987,1850831,20533257,20553101,20560254,20563649,20586333,20593197,20601923,20613545,20627047,20628624,20634891,20650534,20668687,20673868,20708129,20739942,20739944,20815033,20300122,20937258,19101659,19375528,19384972,19550132,19673989,19686581,19707039,19715470,19715472,19718752,19719946,19723508,19744334,19775242,19793313,19814620,19820388,19844737,19877196,19887791,19902103,19925344,19929407,19929408,19939300,19941053,20022641,20083784,20086291,20086306,20096468,20154630,20201936,20230788,20233142,20234132,20235449,20307501,20359100,20377502,20381175,20452482,20471110,20497192 2706 NG_008358,AF281280,AF479776,AL138688,AY255853,AY275646,AY275648,AY275649,AY275650,AY275651,AY275652,AY275653,AY275654,AY280971,AY953438,AY953441,CH471075,U43932,AA947181,AA962716,AK225966,AK313595,BC017048,NM_004004,BC071703,BI491091,BT006732,DA287424,M86849 NP_003995,AAF91440,AAL87696,CAC16959,AAP34178,AAQ94940,AAQ94942,AAQ94943,AAQ94944,AAQ94945,AAQ94946,AAQ94947,AAQ94948,AAQ17213,AAY25169,AAY25170,EAX08252,EAX08253,AAD14840,BAG36361,AAH17048,AAH71703,AAP35378,AAD21314,P29033,ABM82723,ABM85906 Hs.524894,Hs.714494 CX26|DFNA3|DFNA3A|DFNB1|DFNB1A|HID|KID|NSRD1|PPK OTTHUMP00000018094|connexin 26|connexin-26|gap junction beta-2 protein|gap junction protein, beta 2, 26kda (connexin 26) protein-coding 1347813 GJB3 gap junction protein, beta 3, 31kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1300214,1580863 20593197,20627047,20668687,19523148,19558834,19744334,19755382,19814620,9704026,19254696,19050930,19027966,18988928,18809214,18607988,18338563,17672988,16710414,16549784,16406239,16341674,16297190,16077902,15489334,15276679,14583444,12702148,12630965,12477932,12176042,12165562,12154091,12019212,11309368,10798362,10790215,10757647,10594760,10587579,9843210,9843209,9126484,8035838,17207965,21055240 1300214 2707 NM_024009,NM_001005752,NG_008309,AF099730,AJ004856,AL121988,CH471059,AF052692,AK026139,AK312890,AL547036,BC012918,BC110640,BE673240,BM763034,BM846348 NP_076872,NP_001005752,AAC95471,CAA06165,CAB90269,EAX07442,AAD11816,BAG35737,AAH12918,AAI10641,O75712,ADQ31582 Hs.522561 CX31|DFNA2|DFNA2B|EKV|FLJ22486|MGC102938 connexin 31|connexin-31|gap junction beta-3 protein|gap junction protein, beta 3, 31kda (connexin 31) protein-coding 1352157 GJB4 gap junction protein, beta 4, 30.3kDa 1580863,1598970,1598971 16710414,16297190,15489334,14702039,14583444,12648223,12477932,11933201,11420600,11017804,1512260,148984,19291775,19523148,19578796,20593197 1598970,1598971 127534 NM_153212,AL121988,CH471059,CS300805,AK057628,BC034709,NG_016243 NP_694944,CAB90270,EAX07443,CAK32469,BAG51944,AAH34709,Q9NTQ9,ABM82250,ABM85434 Hs.351203 CX30.3|EKV|MGC21116 OTTHUMP00000004185|connexin 30.3|connexin-30.3|gap junction beta-4 protein|gap junction protein, beta 4 (connexin 30.3) protein-coding 732046 GJB5 gap junction protein, beta 5, 31.1kDa Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family.[supplied by OMIM] 1580863 9843209,19339270,16710414,15489334,12477932,17207965 2709 NM_005268,AF099731,AL121988,CH471059,AF052693,AK129509,BC004379 NP_005259,AAC95472,CAB90271,EAX07444,AAD18005,AAH04379,O95377,ADQ31861 Hs.198249 CX31.1 connexin 31.1|connexin-31.1|gap junction beta-5 protein|gap junction membrane channel protein beta 5|gap junction protein, beta 5 (connexin 31.1) protein-coding 1349249 GJB6 gap junction protein, beta 6, 30kDa Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq] 1580863,1599828 20553101,20593197,20613545,20650534,20668687,20739942,20442751,20812880,21086793,10610709,19523148,19465004,19371219,19338775,19318801,19285977,19254696,19173109,19125024,19051073,19027966,18988928,18809214,18758381,18607988,18585793,18580690,18554165,18338563,18294049,17989577,17786286,17695503,17672988,17666888,17615163,17438853,17426645,17368814,17357124,16773579,16406239,16344560,16303743,16222667,16125251,16076412,15964725,15792634,15656949,15638823,15489334,15464308,15464305,15345117,15342556,15150777,15140236,15064611,15025729,14759569,14595769,14571368,12872268,12865758,12788524,12767933,12477932,12419304,12172392,11896458,11874494,11807148,11668644,11245683,11017065,10737800,10471490,9606177,9215774,8845850,8621942,7737190,18029348,19558834,19715470,19719946,19723508,19744334,19814620,19844737,19877196,19887791,20022641,20086291,20233142,20381175,20536673 1599828 10804 NM_001110220,NM_001110219,NM_006783,NG_008323,AJ005585,AL355984,CH471075,CQ783358,AK075247,AK289592,AK312352,AY297110,NM_001110221,AY789474,AY789475,AY789476,BC038934,BE181310,BE185135,BP227986,CF453597,DA165219,DB339720,DB577868,DC295753,DC337465,DN998505 NP_001103691,NP_001103690,NP_001103689,NP_006774,CAA06611,CAI14832,EAX08254,EAX08255,EAX08256,EAX08257,EAX08258,CAF86564,BAG52094,BAF82281,AAP51162,AAV67951,AAV67952,AAV67953,AAH38934,O95452 Hs.511757 CX30|DFNA3|DFNA3B|DFNB1B|ED2|EDH|HED connexin 30|connexin-30|ectodermal dysplasia 2, hidrotic (Clouston syndrome)|gap junction beta-6 protein|gap junction protein, beta 6 (connexin 30) protein-coding 1346461 GJB7 gap junction protein, beta 7, 25kDa Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 15489334,14574404,12881038,12477932,12108537,8889548,17207965 375519 NM_198568,AJ414563,AL096817,AL139274,AL160258,AK127554,BC057813,BM976147 NP_940970,CAC93845,CAH70467,BAG54522,AAH57813,Q6PEY0,ADQ32510 Hs.146727 CX25|MGC71746|bA136M9.1|connexin25 OTTHUMP00000016827|connexin 25|connexin-25|gap junction beta-7 protein protein-coding 1350984 GJC1 gap junction protein, gamma 1, 45kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq] 1580398,1580863 12064590,10377174,10336839,9523149,11557048,19883623,7966354,17546509,17189315,16463142,16344560,15489334,15146197,14766937,14702039,14667880,12477932,12452056,12064615,19913121,20628086,11031247 1580398 10052 NM_001080383,NM_005497,AC005180,CH471178,U03493,AK098274,AK124339,BC096213,BC096214,BC096215,BC096216,CN299428,CR594677,CR603321,CR933719,DA845933 NP_001073852,NP_005488,EAW51577,AAA60458,BAG54030,AAH96213,AAH96214,AAH96215,AAH96216,CAI46249,P36383,Q5H9P2 Hs.712052,Hs.726252 CX45|DKFZp686P0738|GJA7 connexin 45|connexin-45|gap junction alpha-7 protein|gap junction gamma-1 protein|gap junction protein, alpha 7, 45kDa|gap junction protein, alpha 7, 45kda (connexin 45) protein-coding 1346209 GJC2 gap junction protein, gamma 2, 47kDa This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq] 19056803,18521858,18094336,17344063,17031678,16969684,16710414,15489334,15192806,12843301,12805295,12477932,8889548,19423250,20120347,20537300 57165 NM_020435,NG_011838,AF014643,AL359510,CH471098,AY285161,BC035840,BC089439,BU739494,CF132637 NP_065168,AAB94511,CAI15069,EAW69860,AAP37488,AAH35840,AAH89439,Q5T442 Hs.100072 CX46.6|Cx47|GJA12|HLD2|LMPH1C|MGC105119|PMLDAR|SPG44 connexin 47|connexin-46.6|connexin-47|connexin46.6|gap junction alpha-12 protein|gap junction gamma-2 protein protein-coding 1353703 GJC3 gap junction protein, gamma 3, 30.2kDa Connexins, such as GJC3, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 1580863 18353664,15293232,12881038,12690205,12477932,12151525,19657183,19876648,20593197,20632892 349149 NM_181538,AC011904,CH236956,CH471091,AF503615,AY297109,BC038207,BC038208,BC043381,NG_016852 NP_853516,EAL23863,EAW76624,AAM21145,AAP51161,AAH43381,Q8NFK1,AAI48671,AAI56595 Hs.647524 CX29|CX30.2|CX31.3|Cx29|GJE1 connexin 29|connexin-30.2|connexin-31.3|gap junction epsilon-1 protein|gap junction gamma-3 protein protein-coding 733205 GJD2 gap junction protein, delta 2, 36kDa This gene is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. [provided by RefSeq] 1300300 19095792,19000992,17828386,17427027,16876983,15489334,15235036,15116387,15083701,14565956,12522556,12477932,10462698,16211561,20835239,19418635 1300300 57369 NM_020660,AB037509,AC087457,AF153047,CH471125,BC069131,BC069339,BC112110,BC112114,BC143788 NP_065711,BAA90429,AAD54234,EAW92315,AAH69339,AAI12111,AAI12115,AAI43789,Q9UKL4 Hs.283816 CX36|GJA9|MGC138315|MGC138319 connexin 36|connexin-36|gap junction alpha-9 protein|gap junction delta-2 protein|gap junction membrane channel protein alpha 9 protein-coding 1319005 GJD3 gap junction protein, delta 3, 31.9kDa This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq] 1580863 12154091,19168070,18291099,17142249,16772377,12881038,12176752,12064584 125111 NM_152219,AC080112,AF514298,AY093445,CH471152,AK125254 NP_689343,AAM53649,AAM18801,EAW60660,BAC86102,Q8N144,AAI53090 Hs.444663 CX31.9|Cx30.2|GJA11|GJC1 connexin 31.9|connexin-31.9|gap junction alpha-11 protein|gap junction chi-1 protein|gap junction delta-3 protein|gap junction protein, chi 1, 31.9kda (connexin 31.9) protein-coding 1603351 GJD4 gap junction protein, delta 4, 40.1kDa Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 16303743,12881038,12477932 219770 NM_153368,AL121749,CH471072,CQ782432,AJ414564,AK074504,BC035898 NP_699199,CAH73708,EAW85910,EAW85911,CAF85719,CAC93846,BAC11028,AAH35898,Q8IV12,Q96KN9,AAI56175,AAI57015,AAI60130 Hs.670506,Hs.638922 CX40.1|FLJ90023|RP11-425A6.2 connexin 40.1|connexin-40.1|connexin40.1|gap junction delta-4 protein protein-coding 2302326 GJE1 gap junction protein, epsilon 1, 23kDa 14574404,19657183 100126572 AL033522 A6NN92 CX23 connexin-23|gap junction epsilon-1 protein|gap junction protein, epsilon 1, 23kDa protein-coding 1344759 GK glycerol kinase The product of this gene belongs to the FGGY kinase family of proteins and encodes glycerol kinase. Glycerol kinase is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Defects in this gene are the cause of glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1601343,1580863 8944226,15845384,8401584,18660489,16549535,15489334,14654354,12636049,12477932,10851254,10737976,10736265,9719371,8884278,8651297,8499912,8499898,7987308,2982325,2159212,2081587 1601343 2710 HB936825,HB950504,HC994234,HD007914,NM_203391,NM_001128127,NM_000167,NG_008178,AC005913,AC112496,AC117404,AJ252550,CH471074,AA689298,AK294304,AK294938,AK308238,AK313215,BC018009,BC037549,BC042421,BC071595,BG400692,BM906503,BX647604,L13943,X68285,X69886,CD369459 CBG03251,CBG09940,CBV16771,CBV23462,NP_976325,NP_001121599,NP_000158,CAB54857,CAB54858,CAB54859,EAW99053,EAW99054,EAW99055,EAW99056,BAG57585,BAG58015,BAG36030,AAH37549,AAH42421,AAH71595,AAA52576,CAA48346,CAA49512,P32189,Q6IQ27,ABM82506,ABM85699 Hs.1466 GK1|GKD ATP:glycerol 3-phosphotransferase|glycerokinase|glycerol kinase protein-coding 1353777 GK2 glycerol kinase 2 1580863 20877624,7987308,12477932 2712 HC007006,NM_033214,AC079345,CH471057,AK292241,BC027598,BC029820,BC048274,BC058888,BI830891,X78712 CBH19308,NP_149991,EAX05842,BAF84930,AAH29820,AAH48274,AAH58888,CAA55365,Q14410,ABM82247,ABM85431 Hs.98008 GKP2|GKTA ATP:glycerol 3-phosphotransferase 2|GK 2|glycerokinase 2|glycerol kinase 2|glycerol kinase pseudogene 2|glycerol kinase testis specific 2|glycerol kinase, testis specific 2 protein-coding 1344552 GK3P glycerol kinase 3 pseudogene 1580863 12477932,9847074,7987308 2713 NR_026575,AC055120,AC107059,AK292282,BC066960,X78711 Hs.654557 GKP3|GKTB glycerol kinase pseudogene 3 pseudo 1348347 GK4P glycerol kinase 4 pseudogene 7987308 2716 NG_001127,AL672207,X78714 GKP6 glycerol kinase pseudogene 6 pseudo 1606415 GK5 glycerol kinase 5 (putative) 14702039,12477932 256356 NM_001039547,AC108679,CH471052,AK090901,AK127641,AK130469,AK310761,AK313792,BC032470,BU628781,BX648359,BX648681,CR598125,DR000158,NR_033289 NP_001034636,EAW78974,EAW78975,EAW78976,BAC03542,BAC87068,BAG36529,Q6ZS86,ABM82533,ABM85726,AAH32470 Hs.135904,Hs.706584 FLJ33582|FLJ45739|MGC40579 ATP:glycerol 3-phosphotransferase 5|GK 5|glycerokinase 5|putative glycerol kinase 5 protein-coding 1605845 GK6P glycerol kinase 6 pseudogene 7987308,8499912 201989 NG_004742,AC110373,X78713 GK7P|GKP1 pseudo 1347477 GK7P glycerol kinase 7 pseudogene 8499912,7987308 2711 NG_001126,X78713 GKP1|gkp1 glycerol kinase pseudogene 1 pseudo 1315863 GKAP1 G kinase anchoring protein 1 This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16713569,16189514,16015647,12477932,10671526 80318 NM_025211,NM_001135953,AL354733,AL354920,AL662787,CH471089,CS300686,AB033131,AB033132,AF319476,AJ420456,AK058198,AK302100,BC014476,BI459540,DB454445 NP_079487,NP_001129425,CAI16010,CAI16011,CAH70734,CAH70735,CAH70736,EAW62665,EAW62666,CAK32350,BAB40454,BAB40455,AAG40320,BAB71712,BAG63482,AAH14476,Q5VSY0,Q5VSY1,ABM83176,ABM86376 Hs.522255 FKSG21|FLJ25469|GKAP42 G kinase-anchoring protein 1|cGMP-dependent protein kinase anchoring protein 42kDa|cGMP-dependent protein kinase-anchoring protein of 42 kDa|protein kinase anchoring protein GKAP42 protein-coding 1351595 GKN1 gastrokine 1 The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq] 1302499,1580863 10835488,18927498,18593995,17092786,15961882,15489334,12975309,12851218,12477932,11562744,15924415,17207965,20379614 1302499 56287 NM_019617,AC114802,AY139182,CH471053,AB039886,AJ966789,AK098489,AL833013,AY139184,AY359050,AY456961,BC059778 NP_062563,AAY24066,AAN75447,EAW99859,BAA92433,CAI85015,CAH56295,AAN75449,AAQ89409,AAR21211,AAH59778,Q53YU7,Q658S4,Q9NS71,ADQ32573 Hs.69319 AMP18|BRICD1|CA11|FOV|MGC70354|foveolin 18 kDa antrum mucosa protein|AMP-18|BRICHOS domain containing 1|gastrokine-1 protein-coding 1606131 GKN2 gastrokine 2 18722547,18593995,17982272,16888721,15924415,15774165,12975309,12921637,12477932 200504 NM_182536,AC114802,CH471053,AF494509,AJ966788,AY358664,AY943908,BC110809 NP_872342,EAW99860,AAO85515,CAI85014,AAQ89027,AAY24521,Q86XP6,AAI40336,AAI46485 Hs.16757 GDDR|PRO813|TFIZ1|VLTI465 blottin|down regulated in gastric cancer GDDR|down-regulated in gastric cancer GDDR|gastrokine-2|trefoil factor interactions(z) 1 protein-coding 3378226 GKN3P gastrokine 3, pseudogene 15815621,20138039,20379614 100132413 CH471053,NG_016576,AC097495 EAW99861,P0CG01 pseudo 1351874 GKP4 glycerol kinase pseudogene 4 7987308 2714 1344140 GLA galactosidase, alpha This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq] 1601350,1580863 19913121,20628086,18029348,19468850,19615732,19940122,19941952,19949670,20031620,20110537,20122163,6313412,20444686,17804462,17592721,17555407,17263716,16972173,16899426,16754800,16595074,16531566,16511611,16344560,15895718,15776423,15772651,15712228,15489334,15339079,15003450,12938095,12477932,12471562,12370426,12360745,12360742,12033283,11882018,11828341,11775551,11668641,11295840,11076046,10666480,10208848,10090526,9630664,9620884,9373149,9110171,9105656,18023222,9100224,8931708,8875188,8863162,8834244,8807334,39940,16372133,6256390,1332979,2160973,3029062,19621417,19404287,19357250,19287194,19037253,18979223,18849176,18724168,18698230,18633574,18560446,18472290,18456533,18205205,8543175,8425221,8395937,8380905,8125298,8069316,7959728,7911050,7759078,7626884,7599642,7596372,7575533,7531540,7504405,7503918,3036505,3014515,2892762,2836863,2542896,2539398,2171331,2152885,1846223,1315715,20821055,20505683,20860754 1601350 2717 NM_000169,NG_007119,AL035422,CH471115,M13571,M18242,M20317,U78027,X14448,AK222627,AK291095,AK297148,BC002689,BT006864,CR605654,CR607242,CR617861,D00039,DB370480,X05790,X16889 NP_000160,CAB55878,EAX02862,EAX02863,AAA51676,AAA52514,AAA52559,AAB64203,CAA32617,BAD96347,BAF83784,BAG59647,AAH02689,AAP35510,BAA34059,CAA29232,P06280,Q53HF3,Q53Y83,Q6LER7,ABM81647,ABM84825 Hs.69089 GALA agalsidase alfa|alpha-D-galactosidase A|alpha-D-galactoside galactohydrolase 1|alpha-gal A|alpha-galactosidase A|melibiase protein-coding 1349453 GLAT galactose enzyme activator 1192801,164654 2718 1347574 GLB1 galactosidase, beta 1 This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1598983,1598984,1580863 18704747,19472408,19769716,20379614,20947500,21105107,15907791,15714521,15489334,15365997,14987258,12644936,12515396,12477932,12393180,11511921,10891505,10841810,10839995,10737981,10571006,10338095,9501080,9497360,9373149,9203065,8922281,8910459,8670798,8500799,8383699,8213816,8199591,8198123,8125298,7693577,7586649,6807121,6791574,3922758,3921454,3102233,3084469,2511208,2111707,3143362,15498789,19091613,18976701,18772331,18524657,18353697,18217416,18088383,17664528,17661814,17522702,17353931,17309651,16941474,16626397,16538002,16344560,16314480,16314420,16263699,1928092,1909871,1909089,1907800,1606711,1487238,1353343,113895,110522 1598983,1598984 2720 NM_001079811,NM_001135602,NG_009005,AC112211,CH471055,S59584,AK130133,AK222763,AK223091,AK298985,NM_000404,AK300021,AK300753,AK312988,AU134179,BC007493,BT007147,CR613034,CR622020,CR626233,DA077250,DA261513,DB504658,M22590,M27507,M27508,M34423 NP_000395,NP_001073279,NP_001129074,EAW64442,EAW64443,EAW64444,EAW64445,AAB19814,BAD96483,BAD96811,BAH12915,BAH13196,BAH13341,BAG35825,AAH07493,AAP35811,AAA51822,AAA51819,AAA35599,AAA51823,P16278,Q16007,Q53G40,Q53H18,ABM81615,ABM84797 Hs.443031 EBP|ELNR1 acid beta-galactosidase|beta-galactosidase|elastin receptor 1, 67kDa|lactase protein-coding 1319832 GLB1L galactosidase, beta 1-like 737633,1580863 14702039,12975309,12477932 737633 79411 NM_024506,AC068946,CH471063,AK055098,AK074393,AK299404,AK300215,AY358639,BC003523,BC028370 NP_078782,EAW70711,EAW70712,EAW70713,BAB70855,BAG61387,BAG61983,AAQ89002,Q6UWU2 Hs.181173 MGC10771 OTTHUMP00000205950|beta-galactosidase-1-like protein protein-coding 1606483 GLB1L2 galactosidase, beta 1-like 2 16344560,16303743,12975309,12477932,10737800 89944 NM_138342,AP000859,AP003971,CH471065,AF173889,AK074703,AK074750,AK074855,AK074947,AY358497,BC008326,BC040641,BF923895,BX640934,DB228573 Q8IW92,Q8NCG3,NP_612351,EAW67842,EAW67843,EAW67844,AAQ13636,BAC11149,BAC11179,BAC11247,BAC11309,AAQ88861,AAH08326,AAH40641 Hs.436178 MST114|MSTP114 beta-galactosidase-1-like protein 2 protein-coding 1603928 GLB1L3 galactosidase, beta 1-like 3 16554811,15489334,14702039,12477932,20379614 112937 NM_001080407,AP000859,CQ782642,AK074712,AK124514,BC011001,BC040605,BC063875,BC131702,CX760372 NP_001073876,CAF85896,BAC11155,AAH11001,Q8NCI6 Hs.721382 FLJ90231 OTTHUMP00000205765|beta-galactosidase-1-like protein 3|galactosidase, beta 1 like 3 protein-coding 1345592 GLC1B glaucoma 1, open angle, B (adult-onset) 8812425 2722 1349670 GLC1C glaucoma 1, open angle, C 9012402 2723 1350911 GLC1D glaucoma 1, open angle, D (adult-onset) 2724 1347214 GLC1F glaucoma 1, open angle, F (adult-onset) 2726 1352465 GLC1H glaucoma 1, open angle, H (adult-onset) 399564 1344649 GLC1I glaucoma 1, open angle, I 497188 1345712 GLC2A glaucoma 2, angle closure 2727 1348594 GLC3B glaucoma 3, primary infantile, B 8842741 2728 1345194 GLC3C glaucoma 3, primary congenital, C 399565 1347258 GLCCI1 glucocorticoid induced transcript 1 12853948,18029348,17081983,16964243,15489334,14702039,12690205,12557054,12477932,11591653 113263 AC006042,NM_138426,CH236948,CH471073,AK055741,AK093655,AK126731,AL832860,AL833694,BC011254,BC050291,BG719015 NP_612435,EAL24302,EAW93607,EAW93608,BAG54367,AAH11254,AAH50291,Q86VQ1 Hs.131673 FAM117C|GIG18|TSSN1 OTTHUMP00000200939|glucocorticoid-induced transcript 1 protein protein-coding 1607059 GLCE glucuronic acid epimerase Heparan sulfate (HS) is a negatively charged cell surface polysaccharide required for the biologic activities of circulating extracellular ligands. GLCE is responsible for epimerization of D-glucuronic acid (GlcA) to L-iduronic acid (IdoA) of HS, which endows the nascent polysaccharide chain with the ability to bind growth factors and cytokines (Ghiselli and Agrawal, 2005 [PubMed 15853773]).[supplied by OMIM] 15853773,17985344,14718527,14702039,12477932,11279150,11274177,10048485,8889549,20379614 26035 NM_015554,AC026512,AC026992,CH471082,AA393928,AB020643,AK002188,AY635582,BC026096,N41364,W87397 NP_056369,EAW77837,BAA74859,BAG51026,AAT48654,O94923,AAI60046 Hs.183006 HSEPI|KIAA0836 D-glucuronyl C5-epimerase|UDP-glucuronic acid epimerase|glucuronyl C5-epimerase|heparan sulfate epimerase|heparin/heparan sulfate-glucuronic acid C5-epimerase|heparin/heparan sulfate:glucuronic acid C5-epimerase protein-coding 1318561 GLDC glycine dehydrogenase (decarboxylating) The enzyme system for cleavage of glycine (glycine cleavage system; GCS; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). Glycine encephalopathy (GCE; MIM 605899) may be due to a defect in any one of these enzymes; see MIM 238310, MIM 238330, and MIM 238331.[supplied by OMIM] 1580863 20877624,2268343,1996985,18581728,17361008,16601880,16482509,16450403,16404748,16344560,15864413,15851735,15824356,14552331,12477932,12402263,11592811,11286506,10873393,10798358,6790577,6778858,2773994,1993704,1634607,19615732 2731 NM_000170,AF246134,AL162411,AL353718,CH471071,AI480362,AK308470,AK310534,AK314156,AW593954,BC111993,D90239,DA741442,DR002916,M63635,M64590,BC111995,NG_016397 NP_000161,AAK28443,CAQ10367,CAQ07607,EAW58739,EAW58740,BAG36841,AAI11994,AAI11996,BAA14286,AAA36478,AAA36463,P23378,Q9HDA3 Hs.584238 GCE|GCSP|HYGN1|MGC138198|MGC138200|NKH glycine cleavage system P protein|glycine cleavage system protein P|glycine decarboxylase P-protein|glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein p)|glycine dehydrogenase [decarboxylating], mitochondrial protein-coding 1348388 GLDCP glycine dehydrogenase (decarboxylase) pseudogene 9847074,7945295,2268343 2732 NG_003012,AC108215 GLDCP pseudo 1344164 GLDN gliomedin 1302401 16039564,14702039,12975309,12642876,12477932 1302401 342035 AK310755,AY358144,BC113397,BC113399,BK001262,BX538105,CR590325,AC020891,CH471082,AK023623,AK095128,AK172756,AK308933,NM_181789 AAQ88511,AAI13398,AAI13400,DAA01143,CAD98018,Q14DE1,Q6ZMI3,NP_861454,EAW77418,EAW77419,BAD18742 Hs.526441 CLOM|COLM|CRG-L2|CRGL2|FLJ23917|UNC-112 OTTHUMP00000162542|collomin|colmedin|gliomedin protein-coding 1316460 GLE1 GLE1 RNA export mediator homolog (yeast) This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20379614,18724935,9618489,18204449,16000379,15489334,15164053,14702039,14645504,12668658,12477932,9683599,9373149,8125298,16341674 2733 NM_001003722,NM_001499,NG_012073,AL356481,AL445287,CH471090,AA806769,AF058922,AK001767,AK074801,AK222842,AK222854,AK290533,AL117584,BC030012,BM786801,CR592600 NP_001003722,NP_001490,CAH71402,CAH71403,CAH71064,CAH71065,EAW87802,EAW87803,EAW87804,AAC25561,BAG50972,BAD96562,BAD96574,BAF83222,CAB56006,AAH30012,Q53GS7,ABM86235,ABW03696 Hs.522418 GLE1L|LCCS|LCCS1|hGLE1 GLE1 RNA export mediator-like|GLE1-like protein|GLE1-like, RNA export mediator|nucleoporin GLE1 protein-coding 734388 GLG1 golgi apparatus protein 1 1580863 20562859,7531823,8985126,19148508,18463975,16344560,15797922,14743216,14702039,12754519,12684670,12477932,11404363,9182700,9099943,8530051,2355176,1448090,19844255 2734 NM_001145666,NM_001145667,NM_012201,NR_027264,NR_027265,AC009053,AC009153,AC109599,CH471114,AK025457,AK026972,AK027032,AK057359,AK095842,AK131501,AK172806,AK304156,BC031836,BC040133,BC060822,BG719482,BI561038,BX648396,CR615957,DA493962,U28811,U64791,HC309812 NP_001139138,NP_001139139,NP_036333,EAW95682,EAW95683,EAW95684,EAW95685,EAW95686,BAD18777,BAH14120,AAH60822,AAB02178,AAB06460,Q6ZMF1,Q92896,CBJ21213 Hs.109731 CFR-1|DKFZp686L08213|ESL-1|FLJ23319|FLJ23967|FLJ32797|MG-160|MG160 E-selectin ligand 1|Golgi apparatus protein 1|cysteine-rich fibroblast growth factor receptor|golgi sialoglycoprotein MG-160|selectin, endothelial cell, ligand protein-coding 1344225 GLI1 GLI family zinc finger 1 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20083481,18559511,19191023,19473442,19556240,19593328,19706168,19706761,19859563,19887615,19948058,19996099,20049737,20050020,20081843,20175750,20333644,20445566,9118802,10564661,10806483,11238441,12165851,10504446,19432668,19329935,19219074,19214186,19189974,19071955,19015273,18924150,18829525,18754037,18524848,18475300,18425375,18410405,18378682,18281251,18203291,17638910,17628016,17461467,17392427,17196391,17179732,17115028,17102592,17018598,17007023,16887337,16880536,16786128,16701100,16537020,16434164,16293631,16229683,16003737,15905200,15606671,15555571,15489334,15314219,15175043,15111311,15024701,14555646,12907651,12477932,12426310,12221011,12138125,11948912,11717126,11032829,10951255,10559945,9731531,9524201,8378770,3563490,20603613,20647328,19902354,20711444,19203449,2850480,2832761,2497059,1320124,14611647,11960000,20581802,17035233 2735 GQ890670,NM_001167609,NM_005269,NM_001160045,AC022506,AF316573,CH471054,AK297899,BC013000,X07384 NP_001161081,ACX35434,NP_005260,NP_001153517,AAM13391,EAW97013,BAG60219,AAH13000,CAA30297,P08151 Hs.632702 GLI glioma-associated oncogene family zinc finger 1|glioma-associated oncogene homolog 1 (zinc finger protein)|oncogene GLI|zinc finger protein GLI1 protein-coding 1606840 GLI2 GLI family zinc finger 2 This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq] 12435627,19584075,19593328,19937600,19996099,20081843,20146882,20201926,20379614,20487506,9557682,15175043,15994174,8378770,12165851,19453261,19432668,19015636,18794086,18319260,18264131,18006803,17638910,16953426,16651270,16553965,16434164,16327884,20420697,20488474,20099029,16192985,14691458,14581620,12917489,12477932,11238441,11160734,10806483,10564661,10074179,9731531,8812445,8350401,8150204,2850480,2832761,20660365,20634891,20932654,21095584,20685856,20712011,20939080 2736 DQ004396,DQ004397,DQ004398,DQ086814,NG_009030,AC016764,AC017033,M20672,M20673,AB007295,AB007296,AB007297,AB007298,AB209354,AJ707583,AK300071,AY493737,AY493738,AY493739,BC111410,D14827,D14828,NM_005270 BAA03569,AAY58315,AAY58316,AAY58317,AAY87165,P10070,Q0VGA0,Q1PSW9,Q1PSX1,Q59FV5,Q6RSW0,Q6RSW1,Q6RSW2,AAI72434,NP_005261,AAA35898,BAA25665,BAA25666,BAA25667,BAA25668,BAD92591,BAG61875,AAS72889,AAS72890,AAS72891,AAI11411,BAA03568 Hs.111867 HPE9|THP1|THP2 GLI-Kruppel family member GLI2|OTTHUMP00000204358|OTTHUMP00000204359|glioma-associated oncogene family zinc finger 2|oncogene GLI2|tax helper protein 1|tax helper protein 2|tax-responsive element-2 holding protein|tax-responsive element-25-bp sequence binding protein|zinc finger protein GLI2 protein-coding 1314553 GLI3 GLI family zinc finger 3 This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq] 1599838,1580863 20610541,20634891,20672375,20426846,20425471,20583172,10564661,10806483,11238441,9054938,10077605,16254602,18029348,19453261,19432668,19095771,18655123,18252217,18057317,18057099,18000979,17764085,17400206,17283082,17081983,17029207,16705181,16371461,16344560,15811011,15739154,15390181,14608643,12853948,12794692,12575661,12575660,12545275,12477932,12435627,12414818,12142027,10678662,10441570,10441342,10075717,9847074,9843199,9402960,9354785,9302279,8378770,7829101,7566098,2850480,2118997,1879832,14611647,11960000,17000779,17331723,17426814,18478223,18559511,19084012,19389374,19593328,19729595,19829694,19925654,19996099,20050020,20201963,20711444 1599838 2737 NM_000168,M57609,NG_008434,AC005026,AC005028,AC005158,AC073852,AJ250408,CH236951,CH471073,M20674,AA330409,AI863961,AK299299,AK308429,BC113616,BC117168,BF194991,BI497308,DA713549 NP_000159,AAA52564,P10071,AAP21869,AAS01998,AAS02015,CAB59315,EAL24002,EAW94144,EAW94145,BAG61313,AAI13617,AAI17169 Hs.21509 ACLS|GCPS|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV DNA-binding protein|GLI-Kruppel family member GLI3|OTTHUMP00000159085|glioma-associated oncogene family zinc finger 3|oncogene GLI3|zinc finger protein GLI3 protein-coding 1354466 GLI4 GLI family zinc finger 4 1580863 17081983,15489334,12477932,11181995,8641133,2850480 2738 NM_138465,AC138696,CH471162,M20678,M20679,AB209654,AI829114,AY129020,BC014165,BI761835 EAW82269,NP_612474,EAW82268,EAW82270,EAW82271,AAA35990,BAD92891,AAM98763,AAH14165,P10075,Q59F07,Q6YL39,ABM83871 Hs.400533 HKR4|ZNF928 GLI-Kruppel family member GLI4 (oncogene HKR4)|glioma-associated oncogene family zinc finger 4|krueppel-related zinc finger protein 4|zinc finger protein GLI4 protein-coding 1314328 GLIPR1 GLI pathogenesis-related 1 This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1580863 18199537,18030365,17825796,16714093,15489334,14871827,14702039,12477932,11971968,9482873,8973356,7607567,16712791,19913121,20628086,20356381,17207965 11010 NM_006851,AC022507,AC121761,CH471054,CQ834266,CQ834312,AF400440,AK304847,AK313449,BC005227,BC012510,CA421777,CB123261,EF667354,U16307,X91911 NP_006842,EAW97306,EAW97307,EAW97308,CAH05348,CAH05371,AAK92489,BAG65587,AAH12510,ABV21587,AAA82731,CAA63005,P48060,ADQ31908 Hs.205558 CRISP7|GLIPR|RTVP1 GLI pathogenesis-related 1 (glioma)|gliPR 1|glioma pathogenesis-related protein 1|protein RTVP-1|related to testis-specific, vespid, and pathogenesis proteins 1|testes-specific vespid and pathogenesis protein 1 protein-coding 1605255 GLIPR1L1 GLI pathogenesis-related 1 like 1 16714093,15489334,15340161,12975309,12477932 256710 NM_152779,AC121761,CH471054,AY358731,BC014603 NP_689992,EAW97301,EAW97302,AAQ89093,AAH14603,Q6UWM5,ABM84946,ABW03638 Hs.567788 ALKN2972|MGC26856|PRO7434 GLIPR1-like protein 1 protein-coding 1606963 GLIPR1L2 GLI pathogenesis-related 1 like 2 16714093,14702039,12477932 144321 NM_152436,AC121761,CH471054,AK093175,BC016749,BC029557,BC032022,BX640916 NP_689649,EAW97303,EAW97304,EAW97305,BAC04085,AAH16749,AAH29557,CAE45957,Q4G1C9,ABM82459,ABM85648 Hs.406728 MGC39497 GLIPR1-like protein 2 protein-coding 1316497 GLIPR2 GLI pathogenesis-related 2 20237496,16303743,15489334,15164053,14702039,12477932,12137952,11865038 152007 AK298741,AL158830,CH471071,CQ783112,AJ011129,AK074488,AK075091,AK091288,AK307243,AY039756,BC017918,CR596375,CR615709,CR622270,NM_022343,CR626824,CR749781 BAG60887,NP_071738,CAH73678,CAH73679,EAW58315,EAW58316,EAW58317,CAF86319,CAC12812,BAC11019,BAC11395,AAK83460,AAH17918,CAH18647,Q68CU1,Q9H4G4 Hs.493819 C9orf19|GAPR-1 17kD fetal brain protein|Golgi-associated plant pathogenesis-related protein 1|OTTHUMP00000021372|gliPR 2|glioma pathogenesis-related protein 2|golgi-associated PR-1 protein protein-coding 1343612 GLIS1 GLIS family zinc finger 1 GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM] 1580863 18029348,16417217,14702039,14500813,12477932,12042312,20339536,20379614 148979 NM_147193,AC105280,AL049745,AL591720,AL603915,CH471059,AK090634,AK093474,BC101799,BC104911 NP_671726,EAX06734,BAC03494,BAC04178,AAI01800,AAI04912,Q8NBF1,ABZ92209,CAH72026 Hs.306691 FLJ36155 GLI-similar 1|Gli5-like|Glis1-like|zinc finger protein GLIS1 protein-coding 1345602 GLIS2 GLIS family zinc finger 2 Members of the Kruppel-like zinc finger protein family, such as GLIS2, function as activators and/or repressors of gene transcription.[supplied by OMIM] 1580863 17618285,17344476,17289029,14702039,14500813,12477932,11741991,11738817,11262234,21068128 84662 NM_032575,AC012676,CH471112,AF325914,AK095566,AK096936,AK124985,AK126918,BC033763,AC005356,NG_016391 NP_115964,EAW85317,EAW85318,AAK00954,BAG53086,BAG54396,Q9BZE0,AAI41549,AAI46549 Hs.592087 FLJ38247|NKL|NPHP7 GLI-similar 2|GLI-similar protein 2|Kruppel-like zinc finger protein GLIS2|nephrocystin-7|neuronal Krueppel-like protein|zinc finger protein GLIS2 protein-coding 1348907 GLIS3 GLIS family zinc finger 3 This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq] 737633,1580863 19430480,20081858,20378605,20379614,20419449,14500813,18840781,18519826,16715098,16189514,15489334,14702039,12477932 737633 169792 NM_152629,NG_011782,AL133283,AL137071,AL158012,AL162419,AL359095,AA933816,AB065086,AB209404,AK055907,AK075059,AK096318,BC033899,DQ438877,DQ438878,DQ438879,DQ438880,DQ438881,DQ438882,DQ438886,DQ438887,NM_001042413,DQ438889,DQ438890,DQ438891,DQ438892,DQ438893,DQ438894,DQ438895,DQ438896,DQ438897,DQ438898,DQ438899,DQ438900,DQ438901,DQ438902,DQ438903,DQ438904,DQ438905,DQ438907,DQ438888 NP_001035878,NP_689842,CAH72449,CAI39818,CAH70655,BAB93523,BAD92641,AAH33899,ABE66434,ABE66435,ABE66436,ABE66437,ABE66438,ABE66439,Q1PHJ1,Q1PHJ2,Q1PHJ7,Q1PHJ8,Q1PHK2,Q1PHK3,Q1PHK4,Q59FQ6,Q8NEA6,Q8NI64,ABZ92210,ABE66440,ABE66441,ABE66442,ABE66443,ABE66444,ABE66445,ABE66446,ABE66447,ABE66448,ABE66449,ABE66450,ABE66451,ABE66452,ABE66453,ABE66454,ABE66455,ABE66456,ABE66457,ABE66458,Q1PHI1,Q1PHI2,Q1PHI3,Q1PHJ0 Hs.162125 FLJ38999|FLJ90578|MGC33662|ZNF515 GLI-similar 3|OK/KNS-cl.4|zinc finger protein 515|zinc finger protein GLIS3 protein-coding 1315584 GLMN glomulin, FKBP associated protein This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq] 1598992 11571281,11164950,12604780,11845407,16344560,15489334,12904573,12752563,12477932,11329013,10945476,10364524,10051602,8955134,16169070 1598992 11146 NM_053274,NG_009796,AJ302727,AJ302728,AJ302729,AJ302730,AL451010,CH471097,AJ302735,AJ347709,AK295971,BC001257,BG187128,CR610554,CR624143,DA729622,U73704 NP_444504,CAC88124,CAH70761,EAW73097,EAW73098,CAC82938,CAC69882,BAG58747,AAH01257,AAC50908,Q92990 Hs.49105 FAP|FAP48|FAP68|FKBPAP|GLML|GVM|VMGLOM FK506-binding protein-associated protein|FKBP-associated protein|glomulin protein-coding 1350387 GLO1 glyoxalase I The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq] 1580863 20544845,20554694,20712647,17207965,11489834,10807791,16130169,7684374,19470168,19452310,19412133,19379515,19211689,18721844,18455873,18448827,18413187,18344682,18079478,17722011,17463067,17346350,16803681,16555297,16352396,16344560,16305054,15950319,15489334,14574404,12942785,12604221,12477932,11963573,11785295,11513094,11436564,10564821,10521255,9705294,9593316,9218781,8670058,8449929,1686020,1602151,1150236,910130,511191,141008,20093988,20180986,20185929,20379614,20398646,20398908 2739 NG_012074,AF146651,AL391415,CH471081,AB209801,AK129573,AK130312,AK293345,AK312662,AL833442,BC001741,BC011365,BC015934,BT019987,BT019988,BU954454,CR596001,NM_006708,CR603414,CR610558,CR615049,CR617753,CR618038,CR619737,CR623176,CR625986,D13315,DA342581,L07837,S83285 NP_006699,AAD38008,CAI21586,EAX03964,EAX03965,BAD93038,BAG56861,BAG35544,AAH01741,AAH11365,AAH15934,AAV38790,AAV38791,ADQ33143,BAA02572,AAA52565,AAB49495,Q04760,Q59EL0 Hs.268849 GLOD1|GLYI S-D-lactoylglutathione methylglyoxal lyase|aldoketomutase|glx I|glyoxalase domain containing 1|ketone-aldehyde mutase|lactoyl glutathione lyase|lactoylglutathione lyase|methylglyoxalase protein-coding 1315949 GLOD4 glyoxalase domain containing 4 15489334,14702039,12897971,12621583,12528892,12477932,11642406,10810093,20877624,16344560 51031 NM_016080,AC087392,CH471108,CR615687,CR617060,CR618520,CR619295,CR619919,CR621780,CR623217,AF061730,AF151908,AF177342,AF177343,AK001488,AK122678,AK226083,AK292315,BC008605,BC010902,BC015848,CR592137,CR595057,CR601449,CR603503,CR604225,CR607351,CR609415,CR611267,AA721638,AK296584,AK301751,DA608953 NP_057164,EAW90643,EAW90644,EAW90645,EAW90646,Q9HC38,Q9Y3E8,EAW90649,EAW90650,AAG43141,AAD34145,EAW90647,EAW90648,AAG17986,AAG17987,BAG53661,BAF85004,AAH08605,AAH15848,BAG63213,BAH12389 Hs.279061,Hs.595572 C17orf25|CGI-150|HC71 chromosome 17 open reading frame 25|glyoxalase domain-containing protein 4 protein-coding 1603816 GLOD5 glyoxalase domain containing 5 19377476,18029348,12477932 392465 NG_021291,NM_001080489,AF196970,AC115617,CH471224,AI458936,BC067236,DY655159 NP_001073958,EAW50754,A6NK44 Hs.437539 OTTHUMP00000025804|glyoxalase domain-containing protein 5 protein-coding 736638 GLP1R glucagon-like peptide 1 receptor 1624350,1624351,1624349,1624356,1580863 19913121,20347207,20628086,20805279,15452121,17505054,18240029,19755420,19815559,19820010,19859570,19861722,19890029,20002095,20225248,20468064,20483198,20800603,20374430,20529866,20452396,8405712,7589461,19386626,19077438,18541709,18372345,18287102,17475961,17444618,16931572,16644694,15975668,15686481,15670850,15528268,15489334,15364163,14574404,12477932,12034449,11116211,11076863,10990079,10382665,9213353,8404634,8392011,8216285,8112494,7843404,7517895,20649595,20690636,20823098,18577758,12036966 1624350,1624351,1624349,1624356 2740 NM_002062,AB065685,AL035690,AY439112,CH471081,U66062,BC112126,BC113493,L23503,U01104,U01156,U01157,U10037 NP_002053,BAC05908,CAB71177,AAR05444,EAX03970,EAX03971,EAX03972,EAX03973,EAX03974,AAB64013,AAI12127,AAI13494,AAA17021,AAA03614,AAC50050,AAA62471,AAA63787,P43220,AAI11844 Hs.389103 MGC138331 GLP-1 receptor|GLP-1-R|GLP-1R|glucagon-like peptide 1 receptor protein-coding 731561 GLP2R glucagon-like peptide 2 receptor The GLP2 receptor (GLP2R) is a G protein-coupled receptor superfamily member closely related to the glucagon receptor ans GLP1 receptor. Glucagon-like peptide-2 (GLP2) is a 33-amino acid proglucagon-derived peptide produced by intestinal enteroendocrine cells. Like glucagon-like peptide-1 (GLP1) and glucagon itself, it is derived from the proglucagon peptide encoded by the GCG gene. GLP2 stimulates intestinal growth and upregulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. Moreover, GLP2 prevents intestinal hypoplasia resulting from total parenteral nutrition. GLP2R, a G protein-coupled receptor superfamily member is expressed in the gut and closely related to the glucagon receptor (GCGR) and the receptor for GLP1 (GLP1R). [provided by RefSeq] 632881,1580863 9990065,18829546,16448646,16401478,15817468,15670850,15544847,15471943,12477932,11738243,11238747,10982769,19913121,20628086,12036966,18240029,19861958,20379614,20468064,20800603 632881 9340 NM_004246,AC026591,CH471108,AF105367,AK295765,AK307283,AK314269,BC019818,BC041176,BC043390,BC096261,BC096262,BC096263,BC096264 NP_004237,EAW90015,EAW90016,AAD16895,BAG58590,BAG36931,AAH19818,AAH41176,AAH43390,AAH96261,AAH96262,AAH96263,AAH96264,O95838,Q4VAT2,Q4VAT4,Q86XI5,Q86YG9,Q8WUR8,Q4VAT1 Hs.248202 GLP-2 receptor|GLP-2-R|GLP-2R|glucagon-like peptide 2 receptor protein-coding 730939 GLRA1 glycine receptor, alpha 1 The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Two transcript variants encoding different isoforms have been found for this gene. 704404,1598573,1580863 20198385,20631190,2155780,8137830,15748848,11929858,11973623,8298642,7506679,19286654,19086053,19073849,19049967,18806798,18710260,18690053,18658152,18292428,18043720,18036150,17887775,17655979,17655760,17534957,17469203,17434460,17433503,17181559,17040914,16941485,16832093,16361257,16344560,16144831,16109711,16078201,15952785,15951389,15771552,15489334,15489161,15365143,15287733,15147510,14981077,14698963,14593111,14563849,14525990,12954867,12826676,12766618,12746425,12740384,12679369,12667090,12661758,12477932,12356883,12239220,12237328,12080117,11994009,11981021,11981020,11781706,11702206,11580237,10514101,9920650,9373149,9350397,9067762,8973915,8733061,8651283,8571969,8125298,7981700,7925268,7920629,7881416,7806244,7611730,1845981,1355335,19626554,19705103,19732286,19874574,19959465,8717357 1598573 2741 NM_000171,NG_011764,NM_001146040,AC010312,AC091982,CH471062,U77732,AK226046,AK308539,AK312702,BC074980,BC114947,BC114967,DA749850,X52009 NP_000162,NP_001139512,EAW61656,EAW61657,AAB38405,BAG35580,AAH74980,AAI14948,AAI14968,CAA36258,P23415,Q14C71,Q6LC95 Hs.121490 MGC138878|MGC138879|STHE glycine receptor 48 kDa subunit|glycine receptor strychnine-binding subunit|glycine receptor subunit alpha-1|glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome) protein-coding 731909 GLRA2 glycine receptor, alpha 2 1580863 16169070,19874574,20237295,17207965,2155780,19086053,16344560,16144831,15489334,15302677,15147510,12477932,11409700,9674912,8973915,8889549 2742 AF053487,AF053488,AF053489,AF053490,AF053491,AF053492,AF053493,AF053494,NG_016459,NM_001171942,NM_002063,NM_001118886,NM_001118885,AC003658,AC003683,AF053495,CH471074,U77731,AA081959,AK289561,AK297268,AK297304,AK312591,AY437083,AY437084,BC032864,BC045547,CR450343,DA495302,X52008 NP_001165413,ADQ32486,NP_002054,NP_001112358,NP_001112357,AAC35290,EAW98858,EAW98859,EAW98860,AAB38272,AAB38273,BAF82250,BAH12535,BAH12541,BAG35485,AAR87842,AAR87843,AAH32864,CAG29339,CAA36257,P23416 Hs.2700 GLR glycine receptor alpha 2 subunit|glycine receptor subunit alpha-2|glycine receptor, alpha-2 polypeptide protein-coding 732840 GLRA3 glycine receptor, alpha 3 1580863,704404 19086053,16344560,15489334,12477932,12358726,11496371,10737800,9677400,19661067,19959465,7894176 8001 NM_001042543,NM_006529,AC093868,AC107216,AC131948,AF017724,CH471056,AF018157,BC036086,BI600831,CV381684,DA409556,U93917 NP_001036008,NP_006520,AAY40916,AAC39919,EAX04730,EAX04731,EAX04732,EAX04733,AAC39918,AAH36086,AAC39917,O75311,Q4W595,Q9UPF3,ABM81900,ABM85074 Hs.413099 glycine receptor alpha 3 subunit|glycine receptor subunit alpha-3|glycine receptor, alpha-3 polypeptide|ligand gated ion channel protein-coding 1602141 GLRA4 glycine receptor, alpha 4 11181995,12477932 441509 NM_001024452,AL049610,CH471190,Z93848,AK309010,NG_021199,NM_001172285 NP_001019623,EAW54695,Q5JXX5,NP_001165756 Hs.533289 glycine receptor subunit alpha-4 protein-coding 731361 GLRB glycine receptor, beta The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha (GLRA1, MIM 138491; GLRA2, MIM 305990) and beta subunits.[supplied by OMIM] 1598573,1580863 8717357,15748848,11929858,15215304,19086053,16344560,15489334,14698963,14563849,12477932,11496371,10395998,9676428,7546736,14741407,15028279,18621921,18985319,19020133,19204413,19705103,19834535,19874574,20201926 1598573 2743 NM_000824,AC079403,CH471056,AF094754,AF094755,AK290617,BC022502,BC032635,DA528659,U33267,AY426990,CA437106,CD013911,DA168145,DB479295,NG_015823,NM_001166060,NM_001166061 NP_000815,EAX04872,EAX04873,AAC71033,AAC71034,BAF83306,AAH32635,AAB37750,P48167,ABM81785,ABM84940,NP_001159532,NP_001159533 Hs.32973 OTTHUMP00000220897|glycine receptor 58 kDa subunit|glycine receptor subunit beta|glycine receptor, beta subunit protein-coding 736383 GLRX glutaredoxin (thioltransferase) 1580863 20566629,7851394,16884690,19265039,18977241,18682255,18560520,18309294,17976641,17601350,17272816,17185628,17064412,16893901,16311508,15637068,15489334,15342556,15297967,15184054,12892645,20877624,21078302,12723971,12556467,12477932,12244106,12029072,11832487,11297543,11274078,11222536,11146114,11024467,10737800,10508218,10350489,10037490,9860827,9677297,9417094,9332366,9325327,8838810,8645179,8549805,8019414,8018729,7961993,19578876,19896490 2745 NM_002064,NM_001118890,AC008821,AF115105,CH471084,DQ026062,AF069668,AF162769,AK311868,AW128930,AW792936,BC005304,BC010965,BC106075,BE738446,BP196332,BT006689,BX106369,CR450312,CR542165,CR593859,CR611519,CR618562,D21238,X76648,HB874239,HB874319,HB874794,HB874874,HB881150,HB881230,HB882297,HB882377,HB890896,HB890976,HB892720,HB892800,HB894018,HB894098,HB895368,HB895448,HB903199,HB903279,HC931648,HC931728,HC932203,HC932283,HC938559,HC938639,HC939706,HC939786,HC948305,HC948385,HC950129,HC950209,HC951427,HC951507,HC952777,HC952857,HC960608,HC960688 NP_002055,NP_001112362,AAC98318,EAW96054,EAW96055,EAW96056,EAW96057,AAY29058,AAC35798,AAD43353,BAG34809,AAH05304,AAH10965,AAI06076,AAP35335,CAG29308,CAG46962,BAA04769,CAA54094,P35754,ABM83423,ABM86635,CBF61363,CBF61403,CBF61772,CBF61812,CBF64857,CBF64897,CBF65421,CBF65461,CBF69710,CBF69794,CBF71563,CBF71645,CBF72880,CBF72962,CBF74203,CBF74290,CBF82256,CBF82341,CBU86391,CBU86431,CBU86648,CBU86688,CBU89728,CBU89768,CBU90292,CBU90332,CBU94391,CBU94431,CBU95270,CBU95310,CBU95899,CBU95939,CBU96548,CBU96588,CBV00296,CBV00336 Hs.28988 GRX|GRX1|MGC117407 OTTHUMP00000222609|OTTHUMP00000222610|OTTHUMP00000222611|TTase-1|glutaredoxin 1 (thioltransferase)|glutaredoxin-1|thioltransferase-1 protein-coding 1317443 GLRX2 glutaredoxin 2 Glutaredoxins (e.g., GLRX; MIM 600443) are a family of glutathione-dependent hydrogen donors that participate in a variety of cellular redox reactions.[supplied by OMIM] 11297543,11397793,18076901,17961515,17546662,17121859,17115894,17065220,16710414,15917333,15649413,15489334,15328416,15297967,15184054,14676218,12477932,10810093,9325327,18029348,20877624,20929858,18816065,19292455,20547138 51022 HB874295,HB874309,HB874850,HB874864,HB881206,HB881220,HB882353,HB882367,HB890952,HB890966,HB892776,HB892790,HB894074,HB894088,HB895424,HB895438,HB903255,HB903269,HC931704,HC931718,HC932259,HC932273,HC938615,HC938629,HC939762,HC939776,HC948361,HC948375,HC950185,HC950199,HC951483,HC951497,HC952833,HC952847,HC960664,HC960678,NM_197962,NM_016066,AL136370,CH471067,DQ194815,AF132495,AF151891,AF290514,AY038988,BC009669,BC028113,BU157087 CBF61391,CBF61398,CBF61800,CBF61807,CBF64885,CBF64892,CBF65449,CBF65456,CBF69768,CBF69783,CBF71621,CBF71635,CBF72937,CBF72952,CBF74264,CBF74280,CBF82314,CBF82330,CBU86419,CBU86426,CBU86676,CBU86683,CBU89756,CBU89763,CBU90320,CBU90327,CBU94419,CBU94426,CBU95298,CBU95305,CBU95927,CBU95934,CBU96576,CBU96583,CBV00324,CBV00331,NP_932066,NP_057150,CAI10820,CAI10821,EAW91248,EAW91249,ABA03170,AAF37320,AAD34128,AAK83089,AAK72499,AAH09669,AAH28113,Q9NS18 Hs.458283 GRX2|bA101E13.1 bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)|glutaredoxin-2, mitochondrial protein-coding 69462 GLRX3 glutaredoxin 3 69393,1580863 20800603,21160409,20498481,10636891,17353931,18528843,15489334,14702039,12477932,11124703,9373149,8125298,16169070,16189514,16385451,19797004,20170406,20226171,11774602,15342556 69393 10539 AF118649,AF118652,AJ010841,NM_006541,AL139123,CH471066,AK022131,AK225609,BC005289,BC014372,CR602310,CR608749,CR625408,CR625572,BI256922,BP347054,NM_001199868,AA995117 EAW49152,EAW49153,EAW49154,EAW49155,AAF28841,AAF28844,NP_006532,CAC40691,CAA09375,BAG51067,AAH05289,AAH14372,O76003,NP_001186797 Hs.42644 FLJ11864|GLRX4|GRX3|GRX4|PICOT|TXNL2|TXNL3|bA500G10.4 OTTHUMP00000020747|PKC-interacting cousin of thioredoxin|PKC-theta-interacting protein|PKCq-interacting protein|glutaredoxin 4|glutaredoxin-3|thioredoxin-like 2|thioredoxin-like protein 2 protein-coding 1318119 GLRX5 glutaredoxin 5 19731322,20364084,20379614,17485548,16110529,15489334,12477932,9325327,21029046,20877624 51218 NM_016417,AL133467,CH471061,CS185633,AB223038,AF113691,AI089763,BC023528,BC047680,BC071690,BC105275,NG_021217,BI259789,BI834047,BX248075,CR598908,CR622540,DQ083331 NP_057501,EAW81606,EAW81607,CAJ42814,BAF02301,AAF29586,AAH23528,AAH47680,CAD62364,AAZ30731,Q86SX6,Q9P1N5 Hs.532683,Hs.728210 C14orf87|FLB4739|GRX5|MGC14129|PR01238|PRO1238 chromosome 14 open reading frame 87|glutaredoxin 5 homolog|glutaredoxin-related protein 5, mitochondrial|monothiol glutaredoxin-5 protein-coding 1346424 GLRXP glutaredoxin (thioltransferase) pseudogene 11702225,11696981 170522 NG_001013,AF227512,AL109614 GLRXP|bA425M5.1 pseudo 1347944 GLRXP2 glutaredoxin pseudogene 2 11702225 171418 NG_001323,AF358259,AL355074 pseudo 2292183 GLRXP3 glutaredoxin (thioltransferase) pseudogene 3 100132510 NG_009942,AC091944,CH471062 EAW61540,EAW61541 GLRXL pseudo 736636 GLS glutaminase Sahai (1983) [PubMed 6825316] demonstrated phosphate-activated glutaminase (EC 3.5.1.2) in human platelets. It is the major enzyme yielding glutamate from glutamine. Significance of the enzyme derives from its possible implication in behavior disturbances in which glutamate acts as a neurotransmitter (Prusiner, 1981). High heritability of platelet glutaminase was indicated by studies of Sahai and Vogel (1983) [PubMed 6682827] who found an intraclass correlation coefficient of 0.96 for monozygotic twins and 0.53 for dizygotic twins.[supplied by OMIM] 1580863,1300048 20659789,20820037,12629547,19423540,20406964,20438785,20877624,11015561,10719215,19500843,19428810,19428809,19428808,19222703,19219026,19156168,17669570,15642443,15496140,15489334,15246207,14759258,14722097,14702039,12579526,12477932,11163757,11130979,11059811,10620514,10048485,8896557,8499480,6825316,6682827,3531404 2744 NM_014905,AC005540,AC067945,AC079162,CH471058,AB020645,AF097492,AF097493,AF097495,AF158555,AF223943,AF279697,AF327434,AK001220,AK092974,AK289747,AK294927,AK298266,BC038507,BM148085,CR749593,Y08264 NP_055720,AAY24320,AAY24182,AAY14767,EAX10856,EAX10857,EAX10858,EAX10859,EAX10860,BAA74861,AAF00088,AAF00089,AAF00090,AAD47056,AAF33825,AAG17700,AAG47842,BAG50870,BAF82436,BAH11927,BAH12745,AAH38507,CAH18392,O94925,Q53RX0,Q53S89,Q53TX0,Q68D38 Hs.116448 AAD20|DKFZp686O15119|FLJ10358|GLS1|KIAA0838 K-glutaminase|L-glutamine amidohydrolase|glutaminase C|glutaminase kidney isoform, mitochondrial|glutaminase, phosphate-activated protein-coding 1604019 GLS2 glutaminase 2 (liver, mitochondrial) The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. This protein is functionally similar to the kidney glutaminase but is a little smaller in size. Originally thought to be liver-specific, this protein has been found in other tissues as well. At least one transcribed pseudogene has been found for this gene. [provided by RefSeq] 20351271,20378837,20877624,10620514,11163757,19062176,18088378,17669570,16637659,15496140,14675161,12477932,12444921,12163477,11130979,9110174,8619474 27165 BC059370,AC097104,AF348119,CH471054,AF038170,AF110329,AF110330,AF110331,AF223944,AF279698,AK000467,AK289471,AK294822,AK303772,BC025661,BC036929,BC048344,NM_013267,BC119767,BC119768,BI916699,CR624702,HM775422,HM775423,HM775424 NP_037399,AAO13298,EAW96942,EAW96943,EAW96944,EAW96945,AAF21933,AAF21934,AAF33826,AAG17701,BAF82160,BAG57935,BAH14045,AAI19768,AAI19769,Q0VD99,Q8IX91,Q9HB62,Q9UI32,AAI66649,ADR77821,ADR77822,ADR77823 Hs.212606 GA|GLS|LGA|MGC71567|hLGA L-glutaminase|L-glutamine amidohydrolase|breast cell glutaminase|glutaminase GA|glutaminase I|glutaminase liver isoform, mitochondrial|phosphate-activated glutaminase|phosphate-dependent glutaminase|truncated glutaminase 2 protein-coding 1606714 GLT1D1 glycosyltransferase 1 domain containing 1 14702039,12477932,8218172,2649653,2341393,2283726,20379614 144423 NM_144669,AC069262,CH471054,AK056540,BC033953,BC043528,CR626112,AK295333,AK295454 NP_653270,EAW98497,EAW98498,BAB71209,AAH43528,Q96MS3,BAG58307,BAG58388 Hs.655668 FLJ31978 glycosyltransferase 1 domain-containing protein 1 protein-coding 1344980 GLT25D1 glycosyltransferase 25 domain containing 1 737633,1580863 2283726,20470363,2341393,19075007,16303743,14702039,12477932,9373149,8125298,8218172,2649653 737633 79709 AC010618,CH471106,CS051385,AK025982,AK057140,AK074941,AK075541,AK225397,AL831905,BC020492,NM_024656,BC071684,BC081531,BC108308,CR624961 NP_078932,EAW84621,EAW84622,EAW84623,EAW84624,CAI72187,BAB15308,BAG51872,BAC11307,BAC11684,AAH20492,AAH71684,AAI08309,Q6IPW8,Q8NBJ5,Q8WUI9 Hs.418795 FLJ22329|MGC117270 glycosyltransferase 25 family member 1|hydroxylysine galactosyltransferase 1|procollagen galactosyltransferase 1 protein-coding 1602008 GLT25D2 glycosyltransferase 25 domain containing 2 20546612,19075007,18951430,18391951,14702039,12477932,11318611,9628581,8218172,2649653,2341393,2283726,20189936,20379614 23127 NM_015101,AL157943,AL592299,CH471067,AB011156,AF288389,AK095090,AK095192,AK127287,AK293973,BC019709,BC035672,DR761966 NP_055916,CAI17872,CAI14721,CAI14722,CAI14723,EAW91170,EAW91171,EAW91172,BAA25510,AAG60609,BAG52983,BAG53004,BAG54474,BAG57345,AAH19709,AAH35672,Q5SXQ3,Q5SXQ5,Q8IYK4,Q8WUS1 Hs.387995 C1orf17|FLJ37771|FLJ37873|KIAA0584 glycosyltransferase 25 family member 2|hydroxylysine galactosyltransferase 2|procollagen galactosyltransferase 2 protein-coding 1350682 GLT6D1 glycosyltransferase 6 domain containing 1 1580863 19218399,17298992,8218172,2649653,2341393,2283726,19897590,20800603 360203 NM_182974,AL354761,CH471090,AY336054 NP_892019,CAI17203,EAW88171,AAQ01588,Q5T6T3,Q7Z4J2,AAI48648 Hs.522491 GLTDC1|GT6M7 galactosyltransferase family 6 domain containing 1|galactosyltransferase family 6 domain-containing 1|glycosyltransferase 6 domain-containing protein 1 protein-coding 1348884 GLT8D1 glycosyltransferase 8 domain containing 1 This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Three alternatively spliced variants encoding the same isoform have been described. [provided by RefSeq] 18029348,14702039,12975309,12477932,8218172,2649653,2341393,2283726 55830 NM_001010983,NM_152932,AC104446,NM_018446,CH471055,AF157318,AF175227,AF176777,AJ271710,AK027517,AK075031,AK311674,AY358579,BC119671,BF725274,BG700867,BG831844,CR606193,CR614748,CR615891,CR620036,CR621721,CR625296,CR749821,BC119670 NP_001010983,NP_690909,NP_060916,EAW65253,EAW65254,EAW65255,EAW65256,AAF67484,AAQ13652,AAQ13655,CAC19666,BAB55170,BAC11363,AAQ88942,AAI19671,AAI19672,CAH18681,Q68CQ7,Q7Z4D0 Hs.297304 AD-017|DKFZp781O20198|FLJ14611|MSTP139 OTTHUMP00000213401|OTTHUMP00000213439|glycosyltransferase 8 domain-containing protein 1|glycosyltransferase AD-017 protein-coding 1353062 GLT8D2 glycosyltransferase 8 domain containing 2 737633,1580863 12477932,15489334,14702039,12975309,8218172,2649653,2341393,2283726,20379614,17207965 737633 83468 NM_031302,AC078819,CH471054,AJ271711,AK027310,AK056056,AY358763,BC022343 NP_112592,EAW97730,EAW97731,CAC19667,BAB55033,BAB71085,AAQ89123,AAH22343,Q9H1C3,ADQ32211 Hs.631650 FLJ31494 glycosyltransferase 8 domain-containing protein 2|gycosyltransferase protein-coding 1606923 GLT8D3 glycosyltransferase 8 domain containing 3 14702039,12477932,19940119 283464 NM_001099650,NM_173601,AC023513,CH471111,AK021504,AK021752,AK125141,AL832209,BC015597,BC030023,BC039145,CR590862 NP_001093120,NP_775872,EAW57832,EAW57833,BAG54154,AAH15597,AAH30023,AAH39145,Q4G148 Hs.259347 FLJ43151|GLT8D3 glucoside xylosyltransferase 1|glycosyltransferase 8 domain containing 3|glycosyltransferase 8 domain-containing protein 3 protein-coding 1625085 GLT8D4 glycosyltransferase 8 domain containing 4 12477932,19940119 727936 NM_001080393,AC098481,AC114876,BC127733 NP_001073862,AAI27734,A0PJZ3 Hs.710275 GLT8D4 glucoside xylosyltransferase 2|glycosyltransferase 8 domain containing 4|glycosyltransferase 8 domain-containing protein 4 protein-coding 1602720 GLTP glycolipid transfer protein The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq] 15287756,15901739,19270338,18657186,18261224,17980653,17320476,17105344,16169991,15504043,15489334,15329726,12477932,10671554,10653652,8889548,2190982,20694148,17207965,19665998 51228 NM_016433,AC007834,CH471054,AF209704,AK313457,AY372530,AY372531,AY372532,BC009932,BQ227117,CA310913 NP_057517,EAW97880,EAW97881,EAW97882,AAF33210,BAG36244,AAR85984,AAR85985,AAR87373,AAH09932,Q9NZD2,ADQ31615 Hs.381256 glycolipid transfer protein protein-coding 2289752 GLTPD1 glycolipid transfer protein domain containing 1 12477932,19913121,20628086 80772 NM_001029885,AL139287,CH471183,AL122073,BC004366,BC072454,BC098429,CR599582 NP_001025056,CAI23183,EAW56230,EAW56231,CAB59248,AAH98429,Q5TA50,Q9UFH6 Hs.515689 MGC10334 glycolipid transfer protein domain-containing protein 1 protein-coding 1604453 GLTPD2 glycolipid transfer protein domain containing 2 12477932 388323 CD365791,NM_001014985,AC109333,AC233723,CH471108,BC029290,BC150536 NP_001014985,EAW90408,AAI50537,A6NH11 Hs.131035 glycolipid transfer protein domain-containing protein 2 protein-coding 2290027 GLTPP1 glycolipid transfer protein pseudogene 1 18261224 645312 NG_007407,AC090099,AY039109 pseudo 1314970 GLTSCR1 glioma tumor suppressor candidate region gene 1 19279220,20936779,15834925,12477932,12117772,10708517,17474147,20150366,20379614 29998 NM_015711,AC008985,AC010519,CH471126,AA961479,AA994408,AF182077,BC032065,BX362862,AC010331,AC104531 NP_056526,EAW57503,EAW57504,AAF62874,Q9NZM4,AAI56273 Hs.97244 glioma tumor suppressor candidate region gene 1 protein protein-coding 1353107 GLTSCR2 glioma tumor suppressor candidate region gene 2 1580863 18029348,10196275,18729076,17890897,17657248,16971513,15635413,15489334,15355975,14702039,12477932,12429849,11790298,10708517,9373149,8125298,16169070,19596235,19615732,20042497,20185249 29997 CR590467,CR591907,CR595527,CR597440,CR598229,CR598483,CR600044,CR600868,CR601341,CR602831,CR602925,CR603780,CR604074,CR604535,CR605735,CR609531,CR610138,CR611227,CR611242,CR613245,CR614208,CR614362,CR615162,CR617912,CR618822,CR618849,CR619993,CR620661,CR620917,CR622359,CR624154,CR624324,CX866974,AC008745,CH471126,AF161389,AF182076,AF296124,AI540063,AK024486,AK225915,AK297877,AK301117,AK303918,AK309788,AL122063,AL359335,AL359336,AY535000,BC004229,BC006311,BC007248,BC010095,BC013203,BC013235,BC013307,BC014009,BC039869,NM_015710 Q53YP0,Q7L4X7,Q96CS0,Q9H7J4,Q9NZM5,ABM83650,ABM86899,NP_056525,EAW57508,EAW57509,EAW57510,AAF28949,AAF62873,AAG30413,BAB15776,BAG60201,BAG62713,BAG64846,CAB59242,CAB94786,CAB94787,AAS46028,AAH04229,AAH06311,AAH07248,AAH10095,AAH14009,Q9P0B0 Hs.421907 PICT-1|PICT1 glioma tumor suppressor candidate region gene 2 protein|p60|protein interacting with carboxyl terminus 1 protein-coding 733213 GLUD1 glutamate dehydrogenase 1 L-glutamate dehydrogenase (EC 1.4.1.3) has a central role in nitrogen metabolism in plants and animals. Glutamate dehydrogenase is found in all organisms and catalyzes the oxidative deamination of 1-glutamate to 2-oxoglutarate (Smith et al., 2001 [PubMed 11254391]). Glutamate, the main substrate of GLUD, is present in brain in concentrations higher than in other organs. In nervous tissue, GLUD appears to function in both the synthesis and the catabolism of glutamate and perhaps in ammonia detoxification (Mavrothalassitis et al., 1988 [PubMed 3368458]).[supplied by OMIM] 1601353,1300048,1580863,1302513 20659789,16385451,16959573,19690084,19826036,19890003,20164212,20201926,20381070,20877624,12742085,12193607,429360,15578726,11903050,11032875,11502802,18688271,19500843,19448744,19156168,19046187,19046183,18321734,16492972,16151898,15750346,15609325,15489334,15378063,15273247,15164054,15044002,14760703,14702039,12653548,12477932,12324473,12054821,12022886,11950837,11872671,11840195,11297618,11254391,11214910,10636977,10338089,9571255,9373149,8486350,8314555,8244384,8125298,6121377,3997814,3585334,3426581,3399399,3377777,3368458,2757358,1286669,20736409 1601353,1302513 2746 AF086070,DB460681,NG_013010,AK122685,AK222818,AK294685,AK297441,AK297456,AK303458,AK311722,BC040132,BC112946,J03248,M17697,M20867,M37154,X07674,X07769,NM_005271,AL136982,CH471142,S60498,X66300,X66312,AB209406,AK094782,GU727646,HH961834 BAG53667,BAD96538,BAG57846,BAG59867,BAG59880,BAG64501,AAH40132,AAI12947,AAA52523,AAA52524,AAA52526,AAA52525,CAA30521,CAA30598,P00367,Q14400,Q53GW3,Q59FQ4,Q9UQV0,NP_005262,CAI17120,EAW80300,EAW80301,EAW80302,EAW80303,EAW80304,CAA46994,CAA46996,BAD92643,BAG52930,ADU87647,CBX51390 Hs.500409 GDH|GDH1|GLUD|MGC132003 GDH 1|glutamate dehydrogenase (NAD(P)+)|glutamate dehydrogenase 1, mitochondrial protein-coding 3322040 GLUD1P2 glutamate dehydrogenase 1 pseudogene 2 2364112,8244384,8486350 100381203 AL731733,NG_016765,X66313,X66315,X66319 GLUDP2 pseudo 2837562 GLUD1P9 glutamate dehydrogenase 1 pseudogene 9 100131281 AL031117,NG_016578 pseudo 1352274 GLUD2 glutamate dehydrogenase 2 Glutamate dehydrogenase (EC 1.4.1.3) catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate using NAD and/or NADP as cofactors. See also GLUD1 (MIM 138130).[supplied by OMIM] 1580863 19826450,20194501,12742085,11032875,8207021,15578726,18688271,19448744,19428807,19393024,19156168,17924438,15952740,15772651,15750346,15489334,15378063,15044002,12477932,12054821,11999891,11950837,9674910,9109504,8486350,8288265,2365355,16169070 2747 NG_016456,NM_012084,AC006144,U08997,X66310,AK313356,BC005111,BC050732 NP_036216,AAD05030,AAA20969,CAA46995,BAG36157,AAH05111,AAH50732,P49448,Q9BSD0 Hs.368538 GDH2|GLUDP1 GDH 2|glutamate dehydrogenase 2, mitochondrial|glutamate dehydrogenase pseudogene 1 protein-coding 1344222 GLUDP2 glutamate dehydrogenase pseudogene 2 8486350,8244384,8111403,2364112 2748 NG_001128,AL391137,X73122 pseudo 1348207 GLUDP3 glutamate dehydrogenase pseudogene 3 8486350,8244384 2749 NG_002763,AC022400,X66316,X66317,X66318 GLUDP3 pseudo 1346498 GLUDP4 glutamate dehydrogenase pseudogene 4 8486350,3368458 2750 NG_005046,AC098847,X66314 GLUDP4 pseudo 1353618 GLUDP5 glutamate dehydrogenase pseudogene 5 15489334,15164054,12653548,12054821,11903050,11297618,11254391,11214910,10636977,10338089,9571255,8486350,8401522,8314555,3585334,3426581,3399399,3377777,3368458,1286669,429360 2751 X69219,NG_001129,X67491,AL161935 CAA47830 GLUDP5 pseudo 1343185 GLUDP6 glutamate dehydrogenase pseudogene 6 414209 1345817 GLUDP7 glutamate dehydrogenase pseudogene 7 414212 1350734 GLUDP8 glutamate dehydrogenase pseudogene 8 414213 730955 GLUL glutamate-ammonia ligase (glutamine synthetase) Glutamine is a main source of energy and is involved in cell proliferation, inhibition of apoptosis, and cell signaling (Haberle et al., 2005 [PubMed 16267323]). Fetal glutamine requirements are very high and depend largely on active glutamine synthesis and the release of glutamine into the fetal circulation by the placenta. Glutamine synthetase (EC 6.3.1.2), also called glutamate-ammonia ligase (GLUL), is expressed throughout the body and plays an important role in controlling body pH and in removing ammonia from the circulation. The enzyme clears L-glutamate, the major neurotransmitter in the central nervous system, from neuronal synapses (see references in Clancy et al., 1996 [PubMed 8975719]).[supplied by OMIM] 1300048,1580863,2301427,2301429,2301554,2301479,2301553,2301547,2301548,2301556,2301555 20233882,20525558,20471030,19447967,18029348,19500843,19231003,19204801,19183851,19156168,19125103,18662667,18555765,18192886,18005987,17627080,17197094,16710414,16609938,16537434,16267323,16189514,16095760,15642443,15489334,15231748,14760703,14702039,12477932,12160938,10681395,10520940,9263280,9260745,9107685,8975719,8921392,7923146,7909780,2888076,2856920,1681907,20936779,16344560,8889548 2301427,2301429,2301554,2301479,2301553,2301547,2301548,2301556,2301555 2752 NM_001033044,NM_002065,NM_001033056,AL139344,AY486123,CH471067,AK092874,AK122784,AK301600,AL161952,AY486122,AY513283,AY947343,BC010037,BC011700,BC011852,BC018992,BC031964,BC051726,BC127883,BG771732,BX537384,CD688156,CR593676,CR607019,CR608505,CR614928,S70290,X59834,Y00387,BM662182,DA151535,DA456371,NG_013347 NP_001028216,NP_002056,NP_001028228,CAI19842,AAS57905,EAW91116,EAW91117,EAW91118,EAW91119,EAW91120,EAW91121,EAW91122,BAG52617,BAG53728,BAG63088,CAB82304,AAS57904,AAT08036,AAY57874,AAH10037,AAH11700,AAH11852,AAH18992,AAH31964,AAH51726,AAI27884,CAD97626,AAB30693,CAA42495,CAA68457,P15104,Q2TU80,Q9NSP3,ABM84204,ABM87608,ACE87749,ACE87067 Hs.518525 GLNS|GS|PIG43|PIG59 cell proliferation-inducing protein 59|glutamate decarboxylase|glutamate--ammonia ligase|glutamate-ammonia ligase (glutamine synthase)|glutamine synthase|glutamine synthetase|proliferation-inducing protein 43 protein-coding 1349044 GLULL1 glutamate-ammonia ligase (glutamine synthetase)-like 1 8921392 2753 NG_003030,AC091982 GLULL1 glutamate-ammonia ligase (glutamine synthase)-like 1 pseudo 1350062 GLULL2 glutamate-ammonia ligase (glutamine synthetase)-like 2 8921392 2754 NG_009859,AC011092 GLULL2 pseudo 1343638 GLULL3 glutamate-ammonia ligase (glutamine synthetase)-like 3 8921392 401708 NG_007180,AP002469 GLULL3 pseudo 1345808 GLULP glutamate-ammonia ligase (glutamine synthetase) pseudogene 8921392 392305 NG_005208,AL355377 GLULP pseudo 2859014 GLULP5 glutamate-ammonia ligase (glutamine synthetase) pseudogene 5 100421694 AC010183,NG_021735 pseudo 3379550 GLULP6 glutamate-ammonia ligase (glutamine synthetase) pseudogene 6 343981 AC068129,AC068135,AC093389,NG_021543 pseudo 1316190 GLYAT glycine-N-acyltransferase The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. 9202629,7802672,15489334,15342556,13174534,12477932,10630424,8660675,7833837,931988,16169070,19252341,16712791,20877624,20925583 10249 NM_201648,NM_005838,AP000445,CH471076,AB013093,AF023466,AI253073,AI793012,AI793201,AW024233,BC009785,BG401676,BG617408,BP277146,CB161978,CR456927,DR004166 NP_964011,NP_005829,EAW73822,EAW73823,EAW73824,AAB81453,AAH09785,CAG33208,Q6IB77,ABM83638,ABM86890 Hs.145384 ACGNAT|CAT|GAT AAc|HRP-1(CLP)|acyl-CoA:glycine N-acyltransferase|aralkyl acyl-CoA N-acyltransferase|aralkyl acyl-CoA:amino acid N-acyltransferase|aralkyl-CoA N-acyltransferase|glycine N-acyltransferase protein-coding 1603595 GLYATL1 glycine-N-acyltransferase-like 1 15489334,14702039,12477932,17207965 92292 NM_080661,AP001636,CH471076,AB207212,AF087878,AK055818,AK091965,AK130017,AK300479,BC008353,BC013929,DQ084381 NP_542392,EAW73828,EAW73829,EAW73830,BAF96748,AAP97178,BAB71023,BAC03779,BAG62195,AAH08353,AAZ31239,Q969I3,ADQ32633 Hs.38085,Hs.616909 FLJ26507|FLJ34646|GATF-C|GNAT|MGC15397|MGC15937 acyl-CoA:glycine N-acyltransferase-like protein 1|glycine N-acyltransferase-like protein 1 protein-coding 3362199 GLYATL1P1 glycine-N-acyltransferase-like 1 pseudogene 1 100129032 AP001636,NG_022951 pseudo 3160486 GLYATL1P2 glycine-N-acyltransferase-like 1 pseudogene 2 100129933 AP001652,NG_022993 pseudo 4144680 GLYATL1P3 glycine-N-acyltransferase-like 1 pseudogene 3 100287520 AADB02014071,ABBA01021495,AP001258 glycine-N-acyltransferase-like 1 pseudogene 3 pseudo 4144623 GLYATL1P4 glycine-N-acyltransferase-like 1 pseudogene 4 643637 AP001258,AP001636,CH471076,XM_001717627,XM_002343101,XM_002343102,XM_926941,XM_937598,XM_003119178,XM_003119497,XM_003120713 EAW73832,XP_001717679,XP_002343142,XP_002343143,XP_932034,XP_942691,XP_003119226,XP_003119545,XP_003120761 glycine-N-acyltransferase-like 1 pseudogene 4|hCG1729961-like pseudo 1606424 GLYATL2 glycine-N-acyltransferase-like 2 15489334,12477932,20305126,17207965 219970 NM_145016,AP001652,CH471076,AB207211,AF426250,AW264415,BC016789,BC021682 NP_659453,EAW73826,EAW73827,BAF63415,AAO73139,AAH16789,AAH21682,Q8WU03,ADQ31722 Hs.254271 BXMAS2-10|GATF-B|MGC24009 acyl-CoA:glycine N-acyltransferase-like protein 2|glycine N-acyltransferase-like protein 2|glycine acyltransferase family-B protein-coding 1353928 GLYB glycine B complementing 2757 1602601 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) 12588680,12057858 644076 NR_003039,AC079310,AJ489589,AJ489590,AJ489591,AJ489592,AJ489593 CAD34030,CAD34031,CAD34032,CAD34033,CAD34034,Q8IVK1 Hs.483519 glycosylation dependent cell adhesion molecule 1 pseudo 1604750 GLYCTK glycerate kinase This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq] 16753811,18029348,16344560,16189514,12477932,8889549,2551543,2537226,19060904,20800603 132158 NG_023246,AI380271,AK074215,AY134474,AY172690,AY295075,BC021896,BC036862,BC042151,BM555864,CR596316,CR605820,CR615748,CR621896,DA586797,DQ352863,NM_145262,NR_026701,NR_026702,NR_026700,NM_001144951,AC092045,CH471055,AA100208,AF448855,AF529373,NR_026699 AAQ09607,BAB85018,AAM95456,AAO17719,AAP51132,AAH21896,AAH36862,AAH42151,ABD22985,Q8IVS8,ABZ92208,NP_660305,NP_001138423,EAW65205,EAW65206,EAW65207,EAW65208,EAW65209,EAW65210,EAW65211,EAW65212,AAP41923 Hs.415312 HBEBP2|HBEBP4|HBeAgBP4A CG9886-like|HBeAg binding protein 4|HBeAg-binding protein 2|HBeAg-binding protein 4|OTTHUMP00000212858|glycerate kinase protein-coding 1345588 GLYD glycerate-2-dehydrogenase 2758 1354017 GLYS1 glycosuria 1, renal 6524599 2759 1353976 GM2A GM2 ganglioside activator This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. [provided by RefSeq] 1598993,1580863 18029348,17215249,16341674,15489334,15485660,14728689,21036149,12909021,12576516,12477932,11672434,11508694,11090283,10987359,10752311,10364519,9568910,9217013,9204879,8900233,8503891,8288250,8244332,6848657,6724528,3935131,2753159,2209618,2059210,1915858,1915857,1554364,1427911,115863,20379614 1598993 2760 NM_000405,NG_009059,AC008385,AF124717,AF173832,CH471062,AK298867,AK312494,BC009273,BM834780,BX473154,CR626644,L01439,M76477,X16087,X61094,X61095,X62078,NM_001167607 NP_000396,AAD25741,AAF63788,EAW61680,EAW61681,BAG60987,BAG35396,AAH09273,AAA52767,AAA35907,CAA34215,CAA43407,CAA43408,CAA43993,CAA43994,P17900,Q14427,Q6LBL5,ABM82840,ABM86024,NP_001161079 Hs.483873 SAP-3 GM2-AP|cerebroside sulfate activator protein|ganglioside GM2 activator|shingolipid activator protein 3|sphingolipid activator protein 3 protein-coding 1342990 GM2AP GM2 ganglioside activator pseudogene 16478472,16216074,1427911 2761 NG_001130,AB051291,AC069435,L01440 GM2AP pseudo 3028790 GM2AP2 GM2 ganglioside activator pseudogene 2 100287900 AL049762,NG_022818 pseudo 1605349 GMCL1 germ cell-less homolog 1 (Drosophila) This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq] 15489334,14702039,12954656,12927808,12493765,12477932,11591818 64395 NM_178439,AC019206,CH471053,AK023119,AK023261,AK024042,BC007420,CR622496 NP_848526,AAY14865,EAW99842,BAB14416,BAB14494,BAB14796,AAH07420,Q53SE7,Q96IK5,ACE87736,ACE87054 Hs.293971 BTBD13|GCL|GCL1 germ cell-less protein-like 1 protein-coding 1605348 GMCL1L germ cell-less homolog 1 (Drosophila)-like This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq] 16189514,16201836,16094384,15489334,12477932,18614560 64396 NR_003281,AC136632,CH471165,DQ120624,AF198534,AK315701,BC024184,BC024185,BC033886 EAW53846,ABB92410,AAG28529,BAG38063,Q2VIQ8,Q8NEA9,Q9HBV8,ABM81793,ABM84949,ABM84951 Hs.591738 GCL|GMCL2 pseudo 1322234 GMDS GDP-mannose 4,6-dehydratase GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM] 1580863 11698403,9525924,19361506,19027726,16189514,15489334,14702039,14574404,12477932,11831876,9603974,20237496,20379614 2762 GM744695,NM_001500,AL033517,AL034344,AL035693,AL137179,AL158139,AL354670,AL451141,AL591048,CH471087,AF040260,AF042377,AK057484,AK130651,AK313953,AL561275,BC000117,CR541929,CR541947 CAV31710,NP_001491,CAI20018,CAI20019,CAI19400,CAI19401,CAB65990,CAI16872,CAI22880,EAW55075,AAC24501,AAC13553,BAG36670,AAH00117,CAG46727,CAG46745,O60547,Q5TGM9,ABM83715,ABM87035 Hs.144496,Hs.660919 GMD|SDR3E1 GDP-D-mannose dehydratase|GDP-mannose 4,6 dehydratase|short chain dehydrogenase/reductase family 3E, member 1 protein-coding 1603227 GMEB1 glucocorticoid modulatory element binding protein 1 This gene is a member of KDWK gene family. The product of this gene associates with GMEB2 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. Two alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq] 10386584,18455874,16964243,16497673,15555560,15489334,15231748,14702039,12702733,12477932,11927605,11812797,11743720,10894151,10734202,10692587,10523663,18222470 10691 NM_024482,NM_006582,AL645729,CH471059,AF099013,AF173868,AF203694,AK000892,AK023126,AK315195,AK315436,BC001473,CR609157 NP_077808,NP_006573,CAH72426,CAH72427,CAH72428,EAX07676,EAX07677,EAX07678,EAX07679,AAD39355,AAD51352,AAG01189,BAA91410,BAG37635,BAG37824,AAH01473,Q9Y692,ABZ92483 Hs.632373 P96PIF|PIF96 DNA-binding protein p96PIF|GMEB-1|OTTHUMP00000035905|PIF p96|glucocorticoid modulatory element-binding protein 1|parvovirus initiation factor p96 protein-coding 736932 GMEB2 glucocorticoid modulatory element binding protein 2 This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq] 1580863 18029348,10523663,16713569,15489334,12477932,11812797,11780052,11743720,10894151,10574462 26205 BQ954281,DB474085,NM_012384,AL121907,AL353715,CH471077,AB033095,AF173867,AK298927,AL117510,AL133646,BC036305,CR593931 NP_036516,CAI22264,CAI22265,CAI17955,CAI17956,EAW75252,EAW75253,EAW75254,BAA86583,AAD51351,BAG61032,CAH56403,CAB63765,AAH36305,Q659E7,Q9UKD1,ABZ92228 Hs.473286 KIAA1269|P79PIF|PIF79 DNA-binding protein p79PIF|GMEB-2|OTTHUMP00000031574|OTTHUMP00000031575|PIF p79|glucocorticoid modulatory element-binding protein 2|parvovirus initiation factor p79|parvovirus initiation factor, p79 protein-coding 1343495 GMFA glia maturation factor, alpha 2763 735553 GMFB glia maturation factor, beta 9030586,18171522,20547056,8798479,8639570,7598724,1712830,18029348,19086053,16115230,15592455,12477932,9545571 2764 NM_004124,AL359792,CH471061,AB001106,AB209240,AI342496,AK311753,BC005359,BG622077,BI547506,BT006784,BX647679,CR542113,CR603571,M86492 NP_004115,EAW80638,EAW80639,BAA19232,BAD92477,BAG34696,AAH05359,AAP35430,CAG46910,AAA58614,P60983,Q59G69,Q9BS35 Hs.151413 GMF GMF-beta|glia maturation factor beta protein-coding 4109593 GMFBP1 glia maturation factor, beta pseudogene 1 100499251 AC069223,NG_023431 pseudo 736890 GMFG glia maturation factor, gamma 1298632,1580863 16169070,8798479,8639570,7598724,18029348,17127212,15489334,12591611,12477932,11042152,10541589,9653160,9545571 1298632 9535 CR456967,CR542114,EB387540,NM_004877,AB040440,AC011445,AF108027,CH471126,AB001993,AF038956,BC022207,BC032819,BC061922,BC080180,BC093799,BC101818,BC143543,BC143546,BC143548 CAG33248,CAG46911,O60234,Q6IB37,Q8TDZ6,NP_004868,BAB86591,AAD27807,EAW56874,BAA25572,AAC39870,AAH32819,AAH80180,AAH93799,AAI01819,AAI43544,AAI43547,AAI43549 Hs.5210 GMF-GAMMA|MGC126867 glia maturation factor gamma protein-coding 1344953 GMIP GEM interacting protein This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternatively spliced variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 20351714,12093360,16143398,16086184,15375573,12477932,8889548,19913121,20628086 51291 AF132541,NM_016573,AC011458,CH471106,AF086104,AI073975,AK297220,BC032057,BC126436,BC144142,BM666941,BX362896 NP_057657,EAW84838,EAW84839,EAW84840,EAW84841,EAW84842,EAW84843,EAW84844,EAW84845,AAF61330,BAG59703,AAI26437,AAI44143,Q9P107 Hs.49427 GEM-interacting protein protein-coding 1317284 GML glycosylphosphatidylinositol anchored molecule like protein 1580863 20237496,8934543,15489334,12477932,9169150,20800603 2765 NM_002066,AB000381,AC083841,CH471162,BC074930,BC126336,BC126338,D84290 NP_002057,BAA19961,EAW82296,AAH74930,AAI26337,AAI26339,BAA12300,Q99445,ADR82818 Hs.661218 LY6DL GPI anchored molecule like protein|Glycosylphosphatidylinositol-anchored molecule-like protein|glycosyl-phosphatidylinositol-anchored molecule-like protein|gpi anchored molecule like protein protein-coding 1317736 GMNN geminin, DNA replication inhibitor 1580863 20800603,17207965,8125298,18162579,15558010,15260975,11125146,15232106,9635433,19487297,19074885,18798731,18650381,18508524,18404646,18288374,17716975,17029205,16924111,16629645,16464175,16273206,15489334,15389519,15313623,15291814,15284237,15282313,15257290,15159417,14993212,14973489,14973488,14702039,14574404,12745091,12551974,12477932,12429841,9671596,17261582,9373149,20497246,19913121,20628086,16052631,16482215,17318181,19906994 51053 NM_015895,AL133264,CH471087,AF067855,AK021685,AK222992,AK315743,AL558330,BC005185,BC005389,BF977182,CR597438,CR609155,CR615209,CR617635,HC732448 ADQ32794,NP_056979,CAC21511,EAW55465,EAW55466,AAC39787,BAG51040,BAD96712,AAH05185,AAH05389,O75496,Q53GD9,CBL95030 Hs.234896 Gem|RP3-369A17.3 OTTHUMP00000016097|OTTHUMP00000214411|geminin protein-coding 1607034 GMPPA GDP-mannose pyrophosphorylase A This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq] 15146197,15342556,14702039,12477932,11082198,9373149,8125298,16189514 29926 BP284488,BP366441,CN309976,NM_013335,NM_205847,AC053503,CH471063,AB209592,AF135422,AK000999,AK022578,AK222951,AK290671,AK296193,BC007456,BC014266,CR591326,CR593058,CR594561,CR596716,CR603625,CR610071,CR612168,CR615722,CR617537,CR623396,CR623459,CR625729,CR626618,CR606483 NP_037467,NP_995319,AAY15053,EAW70755,EAW70756,EAW70757,EAW70758,EAW70759,BAD92829,AAD38517,BAA91460,BAG51096,BAD96671,BAF83360,BAG58922,AAH07456,Q59F69,Q96IJ6,ABM83799,ABM87120 Hs.27059 GTP-mannose-1-phosphate guanylyltransferase alpha|OTTHUMP00000199572|mannose-1-phosphate guanyltransferase alpha|mannose-1-phosphate guanylyltransferase (GDP) protein-coding 1607035 GMPPB GDP-mannose pyrophosphorylase B This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 15489334,14702039,12975309,12843293,12477932,11347906,11082198,16189514,20307617,20877624 29925 NM_013334,NM_021971,AC099668,CH471055,AF135421,AK024319,AK026582,AK291700,BC001141,BC008033,CR590227,CR597958,CR601262,CR608536,CR618430,CR618645,CR618829,CR622850,HB882073,HB899650,HC939482,HC957059 NP_037466,NP_068806,EAW65012,EAW65013,EAW65014,EAW65015,AAD38516,BAB14882,BAF84389,AAH01141,AAH08033,Q9Y5P6,CBF65311,CBF78479,CBU90182,CBU98600 Hs.567488 KIAA1851 GTP-mannose-1-phosphate guanylyltransferase beta|OTTHUMP00000212649|mannose-1-phosphate guanyltransferase beta|mannose-1-phosphate guanylyltransferase protein-coding 733310 GMPR guanosine monophosphate reductase Guanosine monophosphate reductase (EC 1.7.1.7) catalyzes the irreversible NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). GMPR is able to convert guanosine nucleotides to the pivotal precursor of both guanine (G) and adenine (A) nucleotides. It plays an important role in maintaining the intracellular balance of A and G nucleotides.[supplied by OMIM] 1300048,1580863 9813009,15489334,14574404,12477932,12009299,8750194,8188226,2758468,2570640,2364435,2194676,1757097,1694726,1661705,17207965,16359702,19936222,20864672 2766 NM_006877,AL009031,AL138883,CH471087,L35304,M27941,BC008281,CR594139,CR610393,M24470,NG_013303 NP_006868,CAI21422,CAI19917,EAW55368,EAW55369,AAA52503,AAA53106,AAH08281,AAA52498,P36959,ACE87415,ACE86729,ADQ32308 Hs.484741 GMPR1 GMP reductase 1|guanine monophosphate reductase|guanosine 5'-monophosphate oxidoreductase 1|guanosine monophosphate reductase 1 protein-coding 1343245 GMPR2 guanosine monophosphate reductase 2 1580863 21048031,15489334,12669231,12477932,12009299,11752456,10737800,17207965 51292 NM_001002001,NM_016576,NM_001002002,AL096870,CH471078,AB032903,AF086919,AF135159,AF419346,AK226166,AV660418,BC003053,BC008021,NM_001002000,CR612508,CR611443,CR612422,CR613737,CR615540,CR616348,CR617057,CR620494,CR622349,CR623481,BC009832,BC093039,BE003291,BI259066,BX161436,BX161518,BX247993,BX375671,CA447126,CR457156,CR591357,CR591647,CR592501,CR598318,CR599237,CR599715,CR601664,CR601976,CR604436,CR605753,CR606755,CR607109,CR609928,CR611311 NP_001002001,NP_057660,NP_001002002,EAW66051,EAW66052,EAW66053,EAW66054,EAW66055,EAW66056,EAW66057,EAW66058,BAA93080,AAP97149,AAG09132,AAN32701,AAH03053,AAH08021,NP_001002000,Q6PKC0,Q7Z527,Q86SZ5,Q86T14,Q9P2T1,AAH09832,AAH93039,CAD61908,CAD61951,CAD62327,CAG33437,ADQ32069 Hs.368855 MGC15084|MGC830 GMP reductase 2|guanosine 5'-monophosphate oxidoreductase 2|guanosine monophosphate reductase isolog protein-coding 1320749 GMPS guanine monphosphate synthetase In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq] 1598998,1580863 16712791,8089153,16236267,15489334,12477932,11110714,9373149,9195163,8125298,7706277,7559506,6698284,20562859,1574589,15749019,19615732,20045992,20201926,20659789 1598998 8833 NM_003875,AC067721,AC104472,AC140753,CH471052,AK223399,AK291504,AK300787,AK302148,AK315832,BC012178,BG721087,CB159072,U10860,HB946314,HD003724,NG_023247 NP_003866,EAW78740,EAW78741,BAD97119,BAF84193,BAG62449,BAG63519,BAF98723,AAH12178,AAA60331,P49915,Q53F90,ABM87620,ABW03913,CBG07889,CBV21411 Hs.591314 GMP synthase|GMP synthase [glutamine-hydrolyzing]|GMP synthetase|MLL/GMPS fusion protein|OTTHUMP00000213049|glutamine amidotransferase|guanosine 5'-monophosphate synthase protein-coding 4890559 GMPSP1 guanine monphosphate synthetase pseudogene 1 728564 AC104650,CH471131,NG_023314 EAW82356 pseudo 1342605 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 1579891,1580863 16365309,16350855,16297597,15863506,15693018,15632174,15623527,15489334,15322542,15057824,14702039,12759536,12670961,12477932,12401211,12130679,11916537,11524429,11507095,10789830,10718832,10598579,10446129,9858594,9481484,9462300,9152406,8836152,8621713,8552586,7797501,7492305,1902575,1302014,15507206,8530500,9175863,18713748,17552882,17535809,17056873,16723377,16611642,11118617,1322796,18240029,7937899,18936096,16102047,21083380 1579891 2767 AB209435,AF011497,AF493900,AK091639,AL110227,BC001528,BC089041,BC096225,BC096226,BC096227,CR457004,CR615254,L40630,M69013,NM_002067,AC005262,CH471139 AAA58624,P29992,Q1ED46,Q59FM5,Q659F3,EAW69340,BAD92672,AAB64303,AAM12614,CAH56407,AAH89041,AAH96225,AAH96226,AAH96227,CAG33285,AAA99949,NP_002058,AAC25615,EAW69339 Hs.650575,Hs.654784 GNA-11 G-protein subunit alpha-11|g alpha-11|guanine nucleotide-binding protein G(y) subunit alpha|guanine nucleotide-binding protein subunit alpha-11|guanine nucleotide-binding protein, Gq class, GNA11 protein-coding 732491 GNA12 guanine nucleotide binding protein (G protein) alpha 12 1580863 20546612,10787407,11069896,12123608,17595347,19226283,19343178,19422395,19716891,19772916,20160064,20189936,20379614,7937899,18391951,18367648,18541530,18320579,18307725,17878759,17565996,17510313,16787920,16705036,16612612,16247467,15980433,15746095,15525651,15489334,15240885,15221642,14702039,12853948,12690205,12623966,12594220,12515866,12477932,12297512,12176367,12117999,11976333,11598136,11136230,11094164,9796816,9485474,8647866,8552586,8423800,7829508,7791744,8824244,12761884,14636890,14634662,11546812,8290554,10026210,10477691,10648409,11313914,19008857,18713748 2768 NM_007353,AC004933,AC006028,CH236953,CH471144,AF493901,AI381970,AK024696,AK024834,AK025582,AK025894,AK122830,AK127842,AK128701,AK295830,AL512719,BC007400,BC009457,BC063396,BC087537,BC111464,BI553022,BM557907,CA446135,CR622889,L01694 NP_031379,AAD05026,AAP21870,AAP21871,EAL23961,EAW87272,EAW87273,EAW87274,AAM12615,BAG54584,BAC87579,BAH12193,AAH87537,AAI11465,AAA35867,Q03113,Q5PPR5,Q6ZQV4 Hs.487341 MGC104623|MGC99644|NNX3|RMP|gep G-protein subunit alpha-12|WUGSC:H_GS165O14.2|g alpha-12|guanine nucleotide binding protein, alpha 12|guanine nucleotide-binding protein subunit alpha-12 protein-coding 1320997 GNA13 guanine nucleotide binding protein (G protein), alpha 13 1580863 7791744,10026210,8999798,19074425,18922893,18713748,18703424,18541530,18320579,17878759,17595347,17510313,17493936,17449226,17081065,17056591,16787920,16601072,16212421,16046415,15761153,15735747,15489334,14702039,14634662,12767884,12681510,12623966,12594220,12515866,12509430,12477932,12399457,12297512,12176367,12135322,12117999,11994484,11976333,11696326,11136230,11094164,11062019,10922491,10821841,10816569,10747909,10644457,10598579,10488065,10395940,9641916,9092554,8824244,8552586,8290554,10648409,12123608,16418336,18577758,19093215,19226283,19422395,19615732,19654325,19772916,20075254,20160064,20379614,7937899 10672 NM_006572,AC037487,CH471099,AB075500,AF493902,AK002117,AK026902,AK301699,AK302400,AK313672,BC036756,DC335364,L22075,CR611712 NP_006563,EAW88993,EAW88994,EAW88995,EAW88996,AAM12616,BAG63171,BAH13696,BAG36424,AAH36756,AAA74235,Q14344,ABM84498,ABM85374 Hs.515018 G13|MGC46138 G-protein subunit alpha-13|g alpha-13|guanine nucleotide-binding protein subunit alpha-13 protein-coding 1317712 GNA14 guanine nucleotide binding protein (G protein), alpha 14 This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors. 1580863 10191087,1946421,18360038,17620339,16115892,15489334,12477932,10644457,10625681,8626727,8316840,9862775,7797501,8982657,19913121,20628086,11118617,11264236,1322796,16102047,18240029,19687291,20379614,7937899 9630 NM_004297,AL158159,AL353794,AL355535,AL359849,CH471089,AF105201,AF493903,AI263118,AI629022,AK312460,BC027886,CR595826 NP_004288,CAI40937,CAH74055,CAI14668,EAW62603,AAD17944,AAM12617,BAG35367,AAH27886,O95837,ABM81875,ABM81880,ABM85042,ABW03688 Hs.657795 G-protein subunit alpha-14|g alpha-14|guanine nucleotide-binding protein 14|guanine nucleotide-binding protein subunit alpha-14 protein-coding 732130 GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 1580863 11118617,1322796,18240029,18755267,19687291,7937899,20445134,17207965,7797501,10571060,8415674,16218966,15489334,15057824,14551213,14535952,12885252,12748287,12670499,12647293,12477932,12401211,12095632,11686331,10973974,10644723,9988720,9843397,9742207,9572309,8863838,7703490,7608160,1905813,1302014,20736409,16102047 2769 AK291329,AK300481,GU727637,NM_002068,AC005262,AC005264,CH471139,AF493904,BC013585,BG178215,BT009850,CR594417,M63904,GU727645 BAF84018,BAG62197,ADQ32735,ADU87639,NP_002059,AAC25616,AAC25612,EAW69338,AAM12618,AAH13585,AAP88852,AAA35860,P30679,ADU87646 Hs.73797 GNA16 G-protein subunit alpha-15|G-protein subunit alpha-16|g alpha-15|g alpha-16|guanine nucleotide-binding protein subunit alpha-15|guanine nucleotide-binding protein subunit alpha-16 protein-coding 730824 GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 Guanine nucleotide-binding proteins (G proteins) form a large family of signal-transducing molecules. They are found as heterotrimers made up of alpha, beta, and gamma subunits. Members of the G protein family have been characterized most extensively on the basis of the alpha subunit, which binds guanine nucleotide, is capable of hydrolyzing GTP, and interacts with specific receptor and effector molecules. The G protein family includes Gs (MIM 139320) and Gi, the stimulatory and inhibitory GTP-binding regulators of adenylate cyclase; Go, a protein abundant in brain (GNAO1; MIM 139311); and transducin-1 (GNAT1; MIM 139330) and transducin-2 (GNAT2; MIM 139340), proteins involved in phototransduction in retinal rods and cones, respectively (Sullivan et al., 1986 [PubMed 3092218]; Bray et al., 1987 [PubMed 3110783]). Suki et al. (1987) [PubMed 2440724] concluded that the human genome contains at least 3 nonallelic genes for alpha-i-type subunits of G protein; see, e.g, GNAI2 (MIM 139360), GNAI3 (MIM 139370), and GNAIH (MIM 139180).[supplied by OMIM] 1642020 19913121,20628086,2834384,15537540,3110783,3139448,18984596,18519563,18378672,18083345,18037379,17646583,17416965,17267663,17013094,16775006,16381901,16371464,16004878,15863506,15837785,15657046,15489336,15489334,15242332,14625285,14623889,14602724,14581469,14576516,14530282,12853948,12711604,12629551,12496284,12477932,12297512,12068084,11976690,11955952,11916537,11732925,11507164,11387333,11259487,11256614,11230166,11168387,11076863,10978845,10690676,10644671,10598591,10488065,10471510,10364213,9748257,9660808,9572280,9207071,9110174,8986788,8619474,8552586,8504751,8183236,8107314,7914078,3130752,3092218,2440724,1953657,1902575,15972662,12509430,10840027,8626678,11253162,12860983,10878019,12538595,14656218,11842095,10973974,11069896,11306274,15569929,20679342,20716524,10506573,11196645,11369763,11980706,11981043,12379657,12761884,14993377,15251452,15488169,16298104,16530190,16892066,17215244,18240029,18577758,19369247,19494521,19641626,19666700,19951712,20468064,7937899,8208289,8521505,11118617,16484338,20696855 1642020 2770 CR616478,CR621915,M17219,AC004159,AC080066,CH236949,CH471091,M20594,AF055013,AF493905,AI878901,AK292953,AK304442,AL049933,BC026326,BT019775,CD299597,CR594203,CR595689,CR600756,NM_002069 AAA52581,O43383,P63096,CAL38533,ABM83311,ABM86524,ABM86525,NP_002060,AAC03418,EAW77009,EAW77010,EAW77011,EAW77012,AAA35893,AAC09361,AAM12619,BAF85642,BAG65263,CAB43212,AAH26326,AAV38580 Hs.134587 Gi Gi1 protein alpha subunit|OTTHUMP00000208047|adenylate cyclase-inhibiting G alpha protein|guanine nucleotide-binding protein G(i) subunit alpha-1 protein-coding 730993 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 704404,1598461,1580863 19913121,20628086,11196645,16892066,17215244,18240029,18577758,19282110,19542234,8208289,8521505,16344560,9637720,16189514,8587610,7961880,19367581,19169048,18940181,18854172,17550964,16565233,16298104,15640523,15489334,15331550,15312896,15251452,15126921,14702039,14701866,14634662,14623802,12860983,12748287,12624107,12509430,12477932,12359238,12088413,12068084,11955952,11950062,11387333,11369591,11286993,11168387,11120746,11055978,10978845,10906137,10840027,10727522,10644723,10598579,10493819,10471929,9660808,9647645,9237368,9092559,9079700,8986788,8982657,8973305,8903513,8663226,8663057,8663053,8662698,8621645,8554519,8552586,8473899,8362897,8190105,8098045,7962171,7887906,7882989,7737262,3120178,3100330,2837412,2834384,2512386,2502457,2169434,2121366,2116665,2114093,1733849,1718802,1671672,11253162,16169070,14993377,7937899,11118617 1598461 2771 DB044421,NG_016002,NM_001166425,CR610539,CR618994,J03004,X04828,AK126708,AK131062,AK302330,AK304473,AY677118,BC012138,BC014627,BC016995,CR456783,CR593068,CR599468,CR603761,CR604433,CR606737,CR609921,CH471055,M20593,U73166,U73169,X07854,AF493906,AK055574,AK096299,AK096595,NM_002070 NP_001159897,AAA52556,CAA28512,P04899,Q6B6N3,Q6LCB5,Q93020,Q96C71,ABM83709,ABM86834,BAG54363,BAG63662,BAG65287,AAT78421,AAH12138,AAH14627,AAH16995,CAG33064,BAG53334,NP_002061,EAW65051,EAW65052,EAW65053,EAW65054,EAW65055,EAW65056,AAA35894,AAD12230,AAD12229,CAA30703,AAM12620,BAG51536,BAG53252 Hs.77269 GIP|GNAI2B|H_LUCA15.1|H_LUCA16.1 GTP-binding regulatory protein Gi alpha-2 chain|OTTHUMP00000211066|OTTHUMP00000211067|OTTHUMP00000211070|adenylate cyclase-inhibiting G alpha protein|guanine nucleotide-binding protein G(i) subunit alpha-2|guanine nucleotide-binding protein G(i), alpha-2 subunit protein-coding 1349450 GNAI2L guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2-like 1733849,1733849 2772,2772 AC092112,NG_027930 GNAI2A|GNAI2L pseudo 731003 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 1580863 3109953,7608168,2452165,18663145,18628988,17100651,16511171,16298104,15489334,15251452,12925752,12860983,12826607,12509430,12477932,11961076,11955952,11752444,11563974,11443111,11387333,11168387,11055978,10978845,10644457,10633085,10598579,10508224,10092682,10072511,9858594,9647645,9600933,9079700,8986788,8806649,8774883,8663053,8650218,8626678,14993377,8552586,8524874,8504751,8316840,8218170,3132707,3120178,2834384,2440724,2108158,1902575,10364213,20607800,11196645,11253162,12379657,15488169,16892066,17215244,18240029,18577758,19808657,20065032,20125088,20190146,20379614,7962171,8208289,8521505,11118617 2773 NM_006496,AL355310,CH471122,M20604,AF493907,AK130069,AK311691,AK312252,BC025285,BT019973,BT019974,CR590664,CR608095,J03005,J03238,M27543,J03198 NP_006487,CAI19303,EAW56393,AAA35895,AAM12621,BAG35184,AAH25285,AAV38776,AAV38777,AAA52557,AAA35896,AAA35939,AAA52579,P08754,Q5TZX1,ABM83788,ABM87110 Hs.73799 87U6|FLJ26559 g(i) alpha-3|guanine nucleotide-binding protein G(k) subunit alpha protein-coding 1349997 GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 1580863 14993377,19615732,20379614,7937899,8663304,10026232,1302014,17207965,8243272,19328558,19245791,17166517,16818375,16344560,16044173,15342556,14702039,12782961,12477932,12037684,11901355,11032382 2774 NM_182978,NM_002071,NM_001142339,AP005137,AP001120,CH471113,AP001269,CQ759976,U55184,AF493893,AK090868,AK290054,AK295088,AK307260,AK313902,AK316141,BC050021,BP230966,BX097239,CR597962,DA190390,DC336037,L10665 ADQ32485,NP_892023,NP_002062,NP_001135811,EAX01573,EAX01574,CAF32888,AAD00085,AAM12607,BAC03535,BAF82743,BAG58129,BAG36625,BAH14512,AAH50021,AAC37535,P38405,Q86XU3,Q8N2B4 Hs.136295 adenylate cyclase-stimulating G alpha protein, olfactory type|guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory typ|guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type|guanine nucleotide-binding protein G(olf) subunit alpha protein-coding 731076 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 1300048,1580863,1302571 20602615,1322796,1899283,9050846,18262754,16344560,15251452,14702039,12925752,12911629,12860983,12711604,12509430,12477932,12039967,11916537,11732925,11395521,11259487,11124982,11069896,10973974,10926822,10598591,10521440,10330115,10196137,10066808,9660808,9647645,9572280,9359829,9271201,9079700,8986788,8869990,8552586,8393523,8107314,8078296,7887906,7705473,3124840,2518353,1901650,1899868,1556134,1349607,10753665,10364213,16169070,11253162,15215290,16892066,18240029,18407463,19497306,19666700,20097574,20379614,8208289,8521505,11118617 1302571 2775 DA115582,DA500625,DA529437,M19182,NM_138736,AC009102,AC079411,CH471092,M59927,M60156,M60162,M60164,AF493894,AF493895,AK056008,AL512686,BC012202,BC030027,BX647214,CR936770,NM_020988,Y18213,AK295680 NP_066268,NP_620073,EAW82849,EAW82850,AAA52586,AAA52585,AAM12608,AAM12609,BAG51601,AAH30027,CAH10548,AAA52584,CAB46639,P09471,Q6AWC5,Q8N6I9,ACE87618,ACE86931,BAG58537 Hs.644524 DKFZp686O0962|G-ALPHA-o|GNAO guanine nucleotide binding protein, alpha activating polypeptide O|guanine nucleotide-binding protein G(o) subunit alpha protein-coding 731425 GNAQ guanine nucleotide binding protein (G protein), q polypeptide Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GTP for GDP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM] 1642020,1579891,737757,1598475,1580863 20562673,20631239,11118617,11375483,11875076,11981043,12130679,12650852,1322796,15251452,16102047,18240029,18577758,18672896,18936096,19332487,19445628,19551532,19654573,19718445,19903011,20007712,20379146,20399743,7937899,9481484,9770463,9700850,9685625,9660808,9488690,9405622,9152406,9061052,8923415,8836152,8664309,8655576,8552586,8504751,8227063,8188646,7791744,7629074,7492305,1333286,12652642,12509430,14634662,12748287,8863838,15735747,20237586,21083380,20664004,21056896,9238049,8825633,9175863,1851174,2841328,9198220,10633085,19426503,19078957,19074441,19074439,18991294,18989526,18851832,18719078,18632858,18514160,18434368,18424071,18326504,18322150,18096806,17720980,17606614,17535809,17307333,17197445,16995904,16893886,16860758,16650966,16481068,16381901,16218966,16038796,15794946,15698833,15694379,15611106,15489336,15471870,15466861,15383626,15322542,15115661,14617636,14561750,12885252,12807915,12714438,12711604,12704201,12670961,17552882,12670932,12629551,12626493,12496284,12477932,12193606,12016230,11955952,11916537,11848441,11812005,11753430,11686331,11443126,11408001,11278452,11253162,11194358,11076863,10728414,10598591,10550060,10488065,10446129,20590159 1642020,1579891,737757,1598475 2776 CV570171,DB474490,NG_027904,NM_002072,FB511250,AL160268,AL160278,AL355535,CH471089,AF011496,AF329284,AF493896,AK298579,BC057777,BC067850,BC069520,BC075096,BC075097,L40629,L76256,U40038,U43083 NP_002063,CAI12197,CAV33030,CAI12198,CAI15999,CAI14669,EAW62605,EAW62606,EAW62607,EAW62608,EAW62609,EAW62610,AAB64301,AAG61117,AAM12610,BAH12817,AAH57777,AAH67850,AAH69520,AAH75096,AAH75097,AAA99950,AAB39498,AAC50363,AAB06875,P50148,CAL37720,CAL38271,CAL38639 Hs.269782 G-ALPHA-q|GAQ guanine nucleotide-binding protein G(q) subunit alpha|guanine nucleotide-binding protein alpha-q|heterotrimeric guanine nucleotide-binding protein alpha q subunit protein-coding 1353631 GNAQP guanine nucleotide binding protein (G protein), q polypeptide pseudogene 8825633 2777 NG_000862,AC022629,AC073869,U40037 GNAQP pseudo 736916 GNAS GNAS complex locus This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq] 1580401,1580402,1580403,1580404,1580405,1580406,1601375,1601376,1601378,1625210,2315004,2312654,2313211,1580407,1331525,704404,1601377,1601379,2312469,1579891,2312656,2317256,4140391 19913121,20565774,20628086,18070145,18240029,18642089,19381065,19381884,19412439,19494712,19513951,19542315,19550078,19826830,19948975,20008020,20023040,20027678,20061437,20133939,20150876,20201926,20336923,20459687,20468064,9417641,20427508,12374764,12364467,12215464,12199346,12147228,12119276,12116190,12106601,12030931,12024004,11968001,11926205,11916537,11910300,11836449,11812005,11784876,11780052,11779226,11729322,11600516,11600515,11583900,11583302,11450852,11447126,11297617,11294873,11241472,11095461,10931851,10749992,10598591,10571700,10521440,10493819,10487696,10200251,10190480,9876352,9860993,9794454,9707596,9647645,9626141,9525885,9506752,9373149,9328353,9268375,9267696,9228084,8766942,8702665,8663226,8621513,8552586,8388883,8126161,17207965,19593725,20804925,20443919,19858129,20803660,20015054,9159128,17353931,10729789,12626323,7997272,3018580,11256614,19449667,19429701,19351817,19287459,19274060,19243996,19237173,19189654,19169048,19136681,19073398,19029852,19029774,18951142,18812479,18806481,18755267,18700313,18697996,18694911,18634020,18597624,18553568,18451148,18367996,18362425,18354007,18347176,18258741,18192900,18184921,18182455,18181202,18075835,18038328,18006055,17991745,17982386,17982384,17962410,17937059,17672918,17652219,17595244,17594522,17566083,17514647,17427647,17388805,17356712,17186357,17164301,17161328,17101633,17062894,17045734,17020971,17008315,16876683,16789633,16789629,16789628,16789627,16789620,16575178,16484323,16467086,16442859,16406317,16344560,16315032,16210433,16110341,16081638,16033819,16004878,15894831,15824158,15711092,15701569,15592469,15564881,15537666,15531240,15489334,15479166,15368366,15361543,15242332,15234971,15181091,15148396,15147378,15126527,15112914,15070926,15053924,14991457,14702039,14694347,14561710,14500986,13678786,12970318,12970307,12970263,12862199,12858292,12771991,12756386,12749029,12748287,12719376,12672054,12665801,12656668,12652642,12624854,12621129,12619926,12605446,12488443,12477932,8072545,8037842,8011597,7815417,7797570,7751320,7739708,7737262,7523385,3131741,3127824,3093273,3024154,2549426,2122458,2109828,1944469,1908089,1769666,1716359,1594625,1505964,18948082,15782186,8125298,20346714,20537689,20203101,16460020,20119640,20689139,21046636,19874199,20531296,12036966 1580401,1580402,1580403,1580404,1580405,1580406,1601375,1601376,1601378,1625210,2315004,2312654,2313211,1580407,1331525,1601377,1601379,2312469,1579891,2312656,2317256,4140391 2778 AK314549,NG_016194,NM_001077490,NM_080425,NR_003259,NM_001077489,NM_000516,NM_080426,NM_001077488,AF107846,AJ009849,AJ224868,AJ251760,AL109840,AL121917,AL132655,AY898804,CH471077,M21139,M21142,U12466,NM_016592,AF064092,AF088184,AF088185,AF105253,AF493897,AF493898,AJ224867,AK026564,AK054862,AK093534,AK122771,AK225818,AK315860,AK315874,BC002722,BC008855,BC022875,BC036081,BC066923,BC089157,BC104928,BC108315,BT009905,CA335150,CR590357,CR592583,CR593409,CR593521,CR595856,CR600603,CR600905,CR601034,CR601981,CR603550,CR604005,CR604615,CR604694,CR604909,CR605974,CR606529,CR608368,CR609100,CR609306,CR609386,CR610196,CR611023,CR611320,CR611596,CR612941,CR615348,CR618575,CR619300,CR619319,CR620225,CR621928,CR623718,CX869731,DB037677,M14631,M77026,X04408,X04409,X07036,X56009,CR597302 BAG37135,ADQ32746,NP_057676,NP_001070958,NP_536350,NP_001070957,NP_000507,NP_536351,NP_001070956,AAD11804,CAA08889,CAA12165,CAB83214,CAB83215,CAI42914,CAI42915,CAI42916,CAI42917,CAI42932,CAI42933,CAI42934,CAI42935,CAI42936,CAI42546,CAI42547,CAI42548,CAI42549,CAI42550,CAI42566,CAI42567,CAI42569,CAI42570,CAI42571,CAI43073,CAI43074,CAI43076,CAI43077,CAI43078,AAX51890,EAW75457,EAW75458,EAW75459,EAW75460,EAW75461,EAW75462,EAW75463,EAW75464,EAW75465,EAW75466,EAW75467,EAW75468,EAW75469,EAW75470,EAW75471,AAA53146,AAA53147,AAA53148,AAA53149,AAC16860,AAC34896,AAC34897,AAF63226,AAM12611,AAM12612,CAA12164,BAF98751,BAF98765,AAH02722,AAH08855,AAH22875,AAH66923,AAH89157,AAI04929,AAI08316,AAP88907,AAB60334,AAA52583,CAA27996,CAA27997,CAA30084,CAA39484,O60726,O75632,O75633,O95467,P63092,P84996,Q14455,Q5FWY2,Q5JW64,Q5JWE8,Q5JWE9,Q5JWF2,ACE87520,ACE86834,Q5JWD1 Hs.125898,Hs.694849 AHO|C20orf45|GNAS1|GPSA|GSA|GSP|MGC33735|NESP|PHP1A|PHP1B|PHP1C|POH|dJ309F20.1.1|dJ806M20.3.3 OTTHUMP00000031742|OTTHUMP00000174399|OTTHUMP00000174400|OTTHUMP00000196028|OTTHUMP00000196029|OTTHUMP00000196030|adenylate cyclase-stimulating G alpha protein|alternative gene product encoded by XL-exon|extra large alphas protein|guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1|guanine nucleotide regulatory protein|guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas|neuroendocrine secretory protein|protein ALEX|secretogranin VI 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H protein-coding 2300358 GNASAS GNAS antisense RNA (non-protein coding) GNASAS is a paternally expressed antisense transcript of the GNAS complex locus (MIM 139320) (Hayward and Bonthron, 2000 [PubMed 10749992]).[supplied by OMIM] 19656776,16344560,11889554,11056047,10749992,10716699 149775 NG_021433,NR_002785,AL132655,AJ251759,BF589977,DB067618 Hs.122718 GNAS-AS|GNAS1AS|GNASAS|NCRNA00075|NESPAS|SANG miscrna 1312271 GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1600001,1599006,1580863 1898771,1614872,1302014,20801516,17584859,8673138,2534964,16641997,15489334,12477932,12119397,12107411,11032890,10878019,10583385,8917514,8889548,8307584,2902634,2748346,16892066,17222360,18240029,7822269,8208289,8521505,11118617 1600001,1599006 2779 NM_144499,NM_000172,NG_009831,AC000063,AC002077,CH471055,X63749,AF493908,BC095505,BQ637667,BU727496,BU728210,BX953950,X15088 NP_653082,NP_000163,AAB54048,EAW65047,EAW65048,CAB37839,AAM12622,AAH95505,CAA33196,P11488 Hs.517978 CSNBAD3|GBT1|GNATR guanine nucleotide-binding protein G(T), alpha-1 subunit|guanine nucleotide-binding protein G(t) subunit alpha-1|rod-type transducin alpha subunit|transducin alpha-1 chain|transducin, rod-specific protein-coding 1319893 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq] 1580863,1599034 1322796,2534964,1936270,15557429,15489334,15094710,12477932,12205108,12077706,9008644,8406495,8112713,3118369,2902634,1905716,1713215,1655754,1302014,16892066,18240029,19592100,20125088,8208289,8521505,11118617 1599034 2780 AF493909,BC000233,BT009844,NM_005272,NG_009099,AL355310,CH471122,D10384,S70567,U66698,Z18859 CAA79310,AAM12623,AAH00233,AAP88846,P19087,Q16162,Q5T697,ABM83786,ABM87108,NP_005263,CAI19304,EAW56394,EAW56395,BAA01211,AAD14063 Hs.36973 ACHM4|GNATC cone-type transducin alpha subunit|guanine nucleotide-binding protein G(t) subunit alpha-2|guanine nucleotide-binding protein G(t), alpha-2 subunit|transducin alpha-2 chain|transducin, cone-specific, alpha polypeptide protein-coding 1604949 GNAT3 guanine nucleotide binding protein, alpha transducing 3 2302147 20660057,11118617,17724332,17724330,17021831,16728727,12853948,12690205,11917125,8015379,10570481,12477932,16892066,18240029,8208289,8521505,20858777 2302147 346562 NM_001102386,AC004862,AC073182,AC092108,CH236949,CH471091,BC147016,BC147017 NP_001095856,EAL24192,EAL24193,EAW77007,AAI47017,AAI47018,A8MTJ3 Hs.335049 GDCA guanine nucleotide-binding protein G(t) subunit alpha-3|gustducin alpha-3 chain protein-coding 733341 GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq] 1302584,1300048,1580863 12379657,15488169,16892066,18240029,19946729,8208289,8521505,11118617,11313909,2117645,2456569,3129724,18029348,18391951,15489334,15461802,15326221,12477932,12414994,11950062,10906137,10593970,10092682,9748279,9647645,9603210,9166747,8986788,8975005,8774883,8475115,8429024,7559455,2902634,2153964,2115889,1908722,1902575,1302014 1302584 2781 NM_002073,AC000029,CH471095,D90150,AF493899,AK126747,AK293653,AK312519,BC026342,BC037333,BC078163,BC096828,CR456495,CR597272,CR607632,CR624484,J03260 NP_002064,EAW59559,BAA14180,AAM12613,BAG57104,BAG35418,AAH26342,AAH37333,AAH78163,AAH96828,CAG30381,AAA52580,P19086,Q8IY73,Q8N652,CAK54523,CAK54822,ABM83312,ABW03313 Hs.584760 g(x) alpha chain|guanine nucleotide-binding protein G(z) subunit alpha|gz-alpha|transducin alpha protein-coding 732785 GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene uses alternative polyadenylation signals. [provided by RefSeq] 1300048 3095147,8717044,12626323,7649993,19110265,18729826,18596232,18045877,17548351,17492941,17356515,17167406,17110384,16371464,16368546,16221676,16099817,15953418,15889144,15489334,15331550,15105422,14702039,14512443,12887923,12743112,12527722,12512701,12486123,12486122,12477932,12359736,11698416,11294873,10819326,10744734,10644457,10570481,10518015,9238069,9110174,9108307,9009193,8619474,8982657,8552196,8521505,8308009,7972043,7829508,7665596,1979057,16884933,15782186,11196645,12507995,1543505,15611108,16102047,16225846,16418336,16892066,17215244,18240029,18577758,19727342,19917775,20007712,20048162,20381070,7624799,8208289,8290554,8636150,9152406 2782 BC005888,BC008991,BC114618,BT007305,CR456784,CR591784,CR592893,CR595196,CR606385,CR613667,CR619305,CR621569,CR623427,M36430,X04526,AL031282,AL109917,CH471183,AF070597,AF070603,AF501882,AK096614,AK122949,AK312614,BC004186,NM_002074 AAH04186,AAH05888,AAH08991,AAI14619,AAP35969,CAG33065,AAA63265,CAA28207,P62873,Q1RMY8,Q5QPT1,Q71UM6,Q71UM7,NP_002065,CAI20029,CAI20051,CAI95651,CAI95652,CAI95653,CAI95654,EAW56147,EAW56148,EAW56149,EAW56150,AAC28652,AAC28655,AAM15918,BAG53814,BAG35501 Hs.430425,Hs.721030 G protein, beta-1 subunit|beta subunit, signal-transducing proteins GS/GI|guanine nucleotide binding protein, beta 1|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 1|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1|transducin beta chain 1 protein-coding 1322292 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq] 1580863 11350118,11072084,19011233,18755269,18003636,15489334,15461802,15268862,12477932,11258795,10591208,20538345 54584 NM_053004,AB049212,AC000076,AC000089,CH471176,AB051432,AF238328,AF301895,AY007378,BC012060,BF510806,CA425124,CR456496,CR604918,CR612767,CR621951,CR623885,CR626303,CR590999 NP_443730,BAB68408,EAX03020,BAB33315,AAG36826,AAG53933,AAG12162,AAH12060,CAG30382,Q9BYB4,CAK54524,CAK54823,ACE87689,ACE87000 Hs.105642 DGCRK3|FKSG1|GY2|KIAA1645|WDR14|WDVCF G-protein beta subunit-like protein|OTTHUMP00000196854|OTTHUMP00000196856|WD repeat-containing protein 14|WD40 repeat-containing protein deleted in VCFS|g protein subunit beta-like protein 1|guanine nucleotide binding protein beta-subunit-like polypeptide|guanine nucleotide-binding protein subunit beta-like protein 1 protein-coding 733685 GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq] 1300048 19615732,20381070,16884933,14499622,14679154,17207965,2902634,7649993,12626323,16973746,16498633,16341674,15955845,15761153,15489334,14702039,12665801,12512701,12486123,12477932,11675383,11591653,10644457,10409705,9921901,9799793,9648884,8308009,7782277,7665596,3114742,3108879,1946378,1602151,8636150,16169070,17185339 2783 AC009488,AF053356,CH471091,M16514,AF064853,AF501883,AK056750,AK291592,AL535249,BC010073,BC012348,BC068003,BM763069,CR541729,CR591490,CR595270,CR595768,CR596122,CR596263,CR599855,CR600615,CR605173,CR605713,CR606173,CR607124,CR608300,CR610423,CR614935,CR617794,NM_005273,CR617841,CR618808,CR619507,CR619728,CR621645,CR621759,CR621794,CR622435,CR622608,CR623391,CR624304,CR624493,CR625150,CV569909,M16538,M36429 ADQ32731,NP_005264,AAC78794,EAW76499,EAW76500,EAW76501,AAA03179,AAM15919,BAG51803,BAF84281,AAH10073,AAH12348,AAH68003,CAG46530,AAA35922,AAA63264,P62879,Q6FHM2 Hs.185172 G protein, beta-2 subunit|OTTHUMP00000174602|OTTHUMP00000174603|OTTHUMP00000174604|OTTHUMP00000174605|OTTHUMP00000211369|OTTHUMP00000211370|g protein subunit beta-2|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2|signal-transducing guanine nucleotide-binding regulatory protein beta subunit|transducin beta chain 2 protein-coding 733289 GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 68785 19946739,20819076,20410295,20697360,20020495,11278757,12809483,19451233,19251694,19010305,19000751,18755685,18621736,18596232,18567578,18557705,18442364,18420585,18088317,18057008,17965024,17936896,17900862,17875659,17875644,17574549,17515463,17409124,17361105,17269730,17201176,17166942,17072338,16997272,16920332,16849317,16757810,16705158,16702786,16689683,16382134,16381901,16236267,16212959,16189514,16169070,16061178,15952740,15611085,15596539,15592455,15577927,15548575,15489336,15489334,15467455,15254245,15252133,15202772,15159402,14966116,14963031,14724252,14702039,14699138,14654845,14559993,12960323,12958311,12884273,12761493,12524444,12477932,12435334,12400005,12391233,12388589,12359736,11964397,11956211,11943848,11934885,11884618,11824616,11733189,11709417,11516626,11350068,11301323,11279199,11256614,11076863,11046044,10820259,10490850,10480917,10329691,9876970,9765275,9584165,9442085,9373149,8302854,8290562,8125298,7782277,2499885,1602151,1326322,11312657,18954305,11801604,12692135,10708423,12193273,20689807,12521306,17718421,19423701,19767770,19785988,19966859,20099848,20103773,20875397,19892429,20529362,16449650,16455055,19454010,20736409,15166316 68785 10399 AC008443,CH471165,AK095666,AK222488,AK301029,AK301468,NM_006098,AK310916,AY336089,BC000214,BC000366,BC010119,BC014256,BC014582,BC014788,BC017287,AK303316,BC019093,BC019362,BC021993,BC029996,BC032006,BC035460,CR456978,CR541909,CR590014,CR593549,CR594004,CR594601,CR594655,CR595309,CR597784,CR597855,CR600581,CR601263,CR602411,CR603958,CR604041,CR604224,CR604544,CR605891,CR607176,CR608645,CR609042,CR609331,CR610245,CR610585,CR610887,CR613365,CR614554,CR614855,CR616147,CR616532,CR616617,CR619321,CR619604,CR621372,CR621495,CR623655,CR623659,CR624382,CR625098,CR625157,M24194,GU727632 NP_006089,EAW53692,EAW53693,EAW53694,EAW53695,EAW53696,EAW53697,EAW53698,EAW53699,EAW53700,EAW53701,EAW53702,BAG53102,BAD96208,BAG62644,BAG62988,ABM85522,BAG64385,AAR24619,AAH00214,AAH00366,AAH10119,AAH14256,AAH14788,AAH17287,AAH19093,AAH19362,AAH21993,AAH32006,CAG33259,CAG46707,AAA59626,P63244,CAL38537,ABM82348,ADU87634 Hs.5662 Gnb2-rs1|H12.3|HLC-7|PIG21|RACK1 OTTHUMP00000223870|OTTHUMP00000223891|OTTHUMP00000223893|OTTHUMP00000223900|OTTHUMP00000223901|OTTHUMP00000223902|OTTHUMP00000223930|OTTHUMP00000223931|Receptor for Activated C Kinase 1|cell proliferation-inducing gene 21 protein|guanine nucleotide-binding protein subunit beta-2-like 1|guanine nucleotide-binding protein subunit beta-like protein 12.3|human lung cancer oncogene 7 protein|lung cancer oncogene 7|proliferation-inducing gene 21|protein homologous to chicken B complex protein, guanine nucleotide binding|receptor of activated protein kinase C 1 protein-coding 1346162 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Additional splice variants may exist for this gene, but they have not been fully described. [provided by RefSeq] 1580408,1580410,1580411,1580409,2313204,2313206,1358639,1580863,2313205 19913121,20536507,20570668,20577119,20577224,20588308,20602615,20628086,20629643,20652353,20660057,20673868,20733583,20814328,19437226,19456220,19479237,19491387,19559392,19560507,19574959,19578796,19597293,19620885,19687782,19772422,19779330,19779464,19811352,19876010,19885780,19948975,19956635,19968497,20096003,20102604,20144152,20145952,20170352,20185488,20204402,20213484,20235788,20337945,20351714,20359253,20416077,20452482,20459474,20473689,20488209,20537417,20539277,16314886,16314202,16302021,16284746,16276364,16178055,16141801,16139171,16139102,16133558,16110247,16019105,16015130,16002097,15996174,15978856,15961981,15920455,15855877,15831363,15824464,15761153,15678704,15614196,15536455,15531240,15489334,15389246,15369653,15337465,15332573,15287194,15226674,15212839,15200440,15179018,15138483,15090636,15076154,15057736,15055253,12566975,12512701,12511541,12486123,12477932,12476328,12460053,12454992,12446192,12431187,12424427,12409514,12384823,12270649,12172218,12165748,12154107,12149126,12113397,12109775,12082592,12075862,12052841,12011775,12000471,11992559,11985260,11978662,11930987,11927836,11910300,11816511,11775125,11770079,11768721,11748488,11688759,11586049,11520049,11447495,11439289,11434508,11322658,11283377,11244012,11230982,11230366,12595577,12576843,11116112,10904009,10644457,10513993,15042113,15037876,15033462,15019160,14744475,14742836,14692527,14647404,14604448,14586390,14557282,14512207,13679998,12947562,12930636,12893983,12891286,12844135,12825146,12818251,12756405,12730030,12724620,12697327,12668921,12658019,12654703,12650956,12634518,12624609,12624279,12618278,9425898,2107550,12626323,18029348,19420911,19328558,19309415,19303909,19301222,19263529,19254215,19247266,19243996,19242491,19238444,19193342,19174793,19168127,19155782,19148102,19145770,19141860,19139061,19131662,19103106,19086053,19065529,19056482,18990763,18855531,18849222,18793692,18783529,18725220,18698227,18660489,18656447,18551105,18551043,18513389,18511740,18493717,18439224,18426866,18413308,18413224,18331431,18325652,18325076,18308786,18248681,18242170,18215653,18192837,18071056,18058092,17978878,17972053,17971028,17958314,17943025,17825147,17726725,17717746,17701674,17621167,17584726,17564628,17559964,17544870,17521439,17460549,17361120,17341998,17330058,17299381,17299380,17278960,17189961,17161225,17136758,17066254,17066084,17044851,17044850,17036337,16961612,16938762,16908025,16897596,16871746,16867916,16783490,16762621,16736244,16713434,16710319,16707857,16615274,16600389,16600156,16569552,16513451,16497648,16493638,16487269,16464220,16450155,16449941,16443564,16424860,16354603,9074930,8723724,8636150,8550614,7822269,1979057,16884933,20129829,17185339,20538960,20691427,20734064,20826553,20833658,20860462,20877298,20944660,20952631,20959405,21034538 1580408,1580410,1580411,1580409,2313204,2313206,1358639,2313205 2784 NM_002075,NG_009100,A93384,AF519545,AY631872,CH471116,U47924,Y12050,Y12058,Y14140,AB209283,AF501884,AK313091,BC000115,BC002454,BC015920,BT009800,M31328,U47930,U47931 NP_002066,CAB69546,AAN77120,AAT38116,EAW88730,AAB51313,CAA72779,BAD92520,AAM15920,AAH00115,AAH02454,AAH15920,AAP88802,AAA52582,AAC50468,P16520,Q59G26,Q8IWZ9,Q96B71,ABM82885,ABM86075 Hs.631657 G protein, beta-3 subunit|GTP-binding regulatory protein beta-3 chain|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3|hypertension associated protein|transducin beta chain 3 protein-coding 1348614 GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq] 1580863 12626323,19414374,18815590,15489334,14702039,12782285,12512701,12486123,12477932,12454992,11842130,11294873,10644457,10570481,10409705,8888689,8636150,16884933,17215244,17207965 59345 NM_021629,AC007620,CH471052,AF300648,AK001890,AK022599,AK091332,AK290571,AK297174,AK310009,BC000873,CR591019,CR603437 NP_067642,EAW78403,EAW78404,AAG18442,BAG50987,BAF83260,BAG59667,AAH00873,Q9HAV0,ADQ32360 Hs.173030 G protein beta-4 subunit|guanine nucleotide binding protein beta subunit 4|guanine nucleotide-binding protein subunit beta-4|transducin beta chain 4 protein-coding 731985 GNB5 guanine nucleotide binding protein (G protein), beta 5 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq] 1580863 9606987,19376773,18094259,16867977,16381901,16169070,16135253,15489336,15489334,15474482,14702039,12477932,12119397,11675383,11256614,11230166,11076863,10644457,10521509,10339615,10051672,9789084,9315921,8910430,8636150,16884933,19773279 10681 NM_016194,NM_006578,AC010674,AC023906,CH471082,AF017656,AF300650,AF501885,AK094776,AK125702,AK290330,AK314775,AL117471,AW967075,BC011671,BC013997,CR622646,CR624892 NP_057278,NP_006569,EAW77436,EAW77437,EAW77438,EAW77439,EAW77440,EAW77441,EAW77442,EAW77443,EAW77444,AAC63826,AAG18444,AAM15921,BAG54236,BAF83019,BAG37312,CAB55946,AAH11671,AAH13997,O14775,Q96F32,CAL37903 Hs.155090 FLJ37457|FLJ43714|GB5 G protein, beta subunit 5L|G protein, beta-5 subunit|gbeta5|guanine nucleotide binding protein beta 5|guanine nucleotide-binding protein subunit beta-5|guanine nucleotide-binding protein, beta subunit 5L|transducin beta chain 5 protein-coding 732554 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq] 68786,704404,1580863,1300048 17118363,19841673,19845164,20175955,19917666,9305888,10330343,10334995,18029348,18815882,18698493,18653764,18560563,18373408,17718674,17704511,17698786,17597614,16847058,16810679,15987957,15833430,15748884,15670773,15489334,15342556,15164053,15146476,15136692,14972325,14707127,12927803,12921793,12913203,12811782,12743242,12612874,12497639,12477932,12473780,12473769,12473753,12409274,12325084,12177386,11916006,11749051,11528398,11326336,10431835,10356312,9305887,8889548,8789455,8439453,2808337,2443758,20300792,20346669,20059379 68786 10020 DC418354,NM_001190383,NM_001190384,NM_001190388,AY531127,AY531128,BC121179,BF197948,BM996750,BM999446,BP201585,BQ217959,CA503236,CR621697,DC416534,EU093084,NM_005476,NG_008246,AF317635,AL158830,CH471071,AF051852,AF155663,AJ238764,AK295562,AK296687,AK312539,AL701451,AM697708,AM697709,AY531126,NM_001128227 NP_001177312,NP_001177313,NP_001177317,AAS59257,AAS59258,AAS59259,AAI21180,ABU55403,Q6QNY5,Q6QNY6,Q6QNY7,Q9Y223,NP_001121699,NP_005467,AAG31661,CAD13389,EAW58307,EAW58308,EAW58309,AAD32251,AAD38197,CAB42607,BAH12108,BAH12414,BAG35438,CAM91424,CAM91425 Hs.5920 DMRV|GLCNE|IBM2|NM|Uae1 N-acylmannosamine kinase|UDP-GlcNAc-2-epimerase/ManAc kinase|UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase|UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase|bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase|udp-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase protein-coding 1606839 GNG10 guanine nucleotide binding protein (G protein), gamma 10 17207965,7665596,12626323,15489334,15164053,12477932,17185339 2790 NM_001017998,AL135787,CH471105,AF493877,BC010384,BC015206,BC016319,BC072671,BC107574,BG708408,CR599029,CR608208,CR617193,U31383,AW583403,DB504443,NM_001198664 ADQ32430,NP_001017998,CAC22155,EAW59079,EAW59080,EAW59083,EAW59087,AAM12591,AAH10384,AAH16319,AAH72671,AAI07575,AAC50205,P50151,NP_001185593 Hs.534196,Hs.656890 guanine nucleotide binding protein 10|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 protein-coding 735931 GNG11 guanine nucleotide binding protein (G protein), gamma 11 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq] 1302231,1300048 7665596,12626323,17092487,16189514,15914563,15761153,15489334,12853948,12690205,12486123,12477932,10644457,9847074,16169070 1302231 2791 NM_004126,AC002076,CH236949,CH471091,AF493878,AK312037,BC009709,BG255463,BT007141,CR590486,CR592688,CR596301,CR603702,CR622777,U31384 NP_004117,AAS02020,EAL24138,EAW76804,AAM12592,BAG34974,AAH09709,AAP35805,AAC50206,P61952,Q53Y01,ABM82353,ABM85528 Hs.83381 GNGT11 G protein gamma-11 subunit|guanine nucleotide binding protein gamma subunit 11|guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 protein-coding 1319444 GNG12 guanine nucleotide binding protein (G protein), gamma 12 1580863 14702039,12486123,12477932,11714923,10931946,10409705,9373149,9003074,8125298,7493986,17185339,15078334,12626323,10819326,17081983,15489334,15342556 55970 BP236699,BU151184,NM_018841,AF188181,AL136120,AL391703,AL499611,CH471059,AF119663,AF123766,AF365871,AF493879,AK055914,AK092014,AK223000,AK293101,AL049367,AL832431,BC005940,BC013090,BP236225,BU620098,CR593144,CR605876,FB775498 NP_061329,AAF04571,CAI23496,EAX06484,EAX06485,EAX06486,AAF17220,AAP97245,AAK53385,AAM12593,BAD96720,BAF85790,CAH10645,AAH05940,Q53GD1,Q69YP5,Q9UBI6,CAV30706 Hs.431101,Hs.726103 FLJ31352|FLJ34695 G-protein gamma-12 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 protein-coding 1318585 GNG13 guanine nucleotide binding protein (G protein), gamma 13 1580863 20660057,12626323,16473877,16344560,15616553,15489334,15078334,12486123,12477932,12454992,11675383,11157797,10570481,8889548 51764 NM_016541,AE006465,AL031033,CH471112,AB030207,AF493880,AK312139,AY029486,BC093760,BC095525,BM931126,DA111448 NP_057625,AAK61257,CAB53059,EAW85702,EAW85703,BAA92768,AAM12594,BAG35075,AAK40269,AAH93760,AAH95525,Q9P2W3 Hs.247888 G(gamma)13|h2-35 G gamma subunit, clone:h2-35|guanine nucleotide binding protein 13, gamma|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 protein-coding 736477 GNG2 guanine nucleotide binding protein (G protein), gamma 2 Heterotrimeric G proteins play vital roles in cellular responses to external signals. The specificity of a G protein-receptor interaction is primarily mediated by the gamma subunit.[supplied by OMIM] 1580863 12626323,18029348,18045877,17492941,16344560,16099817,15761153,15747776,15489334,15105422,14702039,14512443,12853961,12527722,12486123,12477932,11698416,11483580,11294873,10833460,10744734,10518015,9286705,9238069,9063897,9009193,8636150,7972043,7782277,15889144,15782186,11313909,19913121,20628086,11196645,12507995,15451670,15611108,16102047,16418336,16892066,18240029,18577758,20007712,7624799,8208289,8290554,8521505,9152406 54331 NM_053064,AL358333,CH471078,AB074180,AF130106,AF493870,AK001024,AK026424,AK026425,AK092371,AK307171,AL832878,BC020774,BC041446,BC060856,BQ025819,CR620222,CR621932,DA322879 NP_444292,EAW65663,EAW65664,EAW65665,AAG35531,AAM12584,CAI46198,AAH20774,AAH60856,P59768,Q9H373 Hs.187772 g gamma-I|guanine nucleotide binding protein gamma 2|guanine nucleotide binding protein, gamma 2|guanine nucleotide-binding protein G(I)/G(O) gamma-2 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 protein-coding 1350428 GNG3 guanine nucleotide binding protein (G protein), gamma 3 G proteins are heterotrimers of alpha, beta, and gamma subunits. Gamma subunits, such as GNG3, contribute to the specificity of the hundreds of receptor signaling pathways involving G proteins (Schwindinger et al., 2004 [PubMed 15314181]).[supplied by OMIM] 20534534,10075696,12626323,15489334,15314181,15078334,12486123,12477932,11294873,10819326,10644457,9003074,8636150,8550614,7822269,17185339 2785 NM_012202,AF188177,AP001458,CH471076,AF075042,AF087900,AF092129,AF493871,AK311933,BC015563,CK004020,CR620191,CR625883 NP_036334,AAF04567,EAW74082,AAP97199,AAD40371,AAM12585,BAG34874,AAH15563,P63215,ABM82816,ABM86002 Hs.179915 NBP gamma-3|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3|guanine nucleotide-binding protein gamma-3 subunit protein-coding 1353997 GNG4 guanine nucleotide binding protein (G protein), gamma 4 1302231,1580863 17185339,12626323,15824735,7665596,17903295,16344560,15489334,14702039,12486123,12477932,10644457,8636150,7782277,16884933 1302231 2786 HI573886,HI573888,HI573890,NM_004485,NM_001098721,NM_001098722,AL390765,AL583844,AL672238,CH471098,AF493872,AK074383,AK311781,AL832564,BC022485,CR592582,CR593666,CR607248,CX784976,DA122711,DA230013,DB501745,U31382 CBX47432,CBX47433,CBX47434,NP_004476,NP_001092191,NP_001092192,CAH73033,CAH72087,EAW70030,EAW70031,AAM12586,BAG34724,AAH22485,AAC50204,P50150 Hs.159711 DKFZp547K1018|FLJ23803|FLJ34187 guanine nucleotide binding protein 4|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 protein-coding 737441 GNG5 guanine nucleotide binding protein (G protein), gamma 5 1300048 10819326,12626323,9790912,16710414,16341674,15489334,12665801,12486123,12477932,11042152,9653160,8636150,7606925,1549114,3113327,17185339,20877624 2787 NM_005274,AF085709,AL359762,CH471097,AF038955,AF493873,AK312111,BC003563,BM809260,BM834854,BT006823 NP_005265,AAC72203,CAH70203,EAW73236,AAC39869,AAM12587,BAG35047,AAH03563,AAP35469,P63218 Hs.645427 FLJ92393 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 protein-coding 1346549 GNG5P guanine nucleotide binding protein (G protein), gamma 5 pseudogene 728411 1549114 728411 2789 NG_006561,AL121956 GNG5P pseudo 1626539 GNG5P2 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2 15772651,10819326 347687 NG_002699,AF188178,AL031319 AAF04568,CAB41647 GNG5ps|dJ364I1.1 pseudo 1626592 GNG5P3 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3 100101932 NG_006562,AP001781 pseudo 1626591 GNG5P4 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4 100101933 NG_006563,AC074008 pseudo 1626590 GNG5P5 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5 100101935 NG_006564,AL354814 pseudo 1348974 GNG7 guanine nucleotide binding protein (G protein), gamma 7 1580863 20379614,12626323,9600093,18219292,16344560,15489334,15057824,14702039,12477932,11181995,8636150,16169070,8308009,20543539,17185339 2788 NM_052847,AC005512,AC005756,AC006538,AC092068,AC104432,AC104537,CH471139,AB010414,AF493874,AK024465,AK123863,AK311750,BC010463,BC014466,BC037318,BC053630,DA106844,DA247608 NP_443079,AAC32595,EAW69374,BAA28348,AAM12588,BAB15755,BAG34693,AAH14466,AAH53630,O60262 Hs.515544 FLJ00058 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 protein-coding 735730 GNG8 guanine nucleotide binding protein (G protein), gamma 8 1580863 19913121,20628086,10819326,12626323,15489334,12486123,12477932,17185339 94235 CH471126,AF493875,BC095514,NM_033258,AC093503,AF188179 EAW57434,AAM12589,AAH95514,Q9UK08,AAF04569,NP_150283 Hs.283961 g-protein gamma 8 subunit|gamma-9|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 protein-coding 1351801 GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et al., 1984 [PubMed 6438626]; Scherer et al., 1996 [PubMed 8661128]).[supplied by OMIM] 8661128,17548351,17110384,15901556,15489334,15368366,12853948,12690205,12486123,12477932,10636894,10585447,10360181,8636150,8500562,7665596,6438626,1706334,20098747,20048162,17185339 2792 AC002076,CH236949,CH471091,S62026,U41492,U41493,AF493869,BC029367,CR456912,S62027,NM_021955 NP_068774,AAS02021,EAL24139,EAW76805,EAW76806,AAD13931,AAB92386,AAB92387,AAM12583,AAH29367,CAG33193,AAB26896,Q6LCP6,ABM83486,ABM86701,P63211 Hs.702084 GNG1 OTTHUMP00000208599|guanine nucleotide-binding protein G(T) subunit gamma-T1|transducin gamma chain protein-coding 1343902 GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. There is evidence for use of multiple polyadenylation sites by this gene. [provided by RefSeq] 1580863 17207965,9286705,18729826,16973746,15489334,12743112,12486123,12477932,11714923,9108307,8943291,8889548,8636150,10570481,16344560,17185339 2793 NM_031498,NG_009841,AC069454,AF001158,AF001159,AF001160,CH471109,AF365870,AF493876,AI857683,AK312839,BC008663,BU742490,BM723861,DA248836,NM_001198754,NM_001198755,NM_001198756 ADQ33186,NP_113686,AAB70039,EAW94688,EAW94689,AAK53384,AAM12590,BAG35693,AAH08663,O14610,NP_001185683,NP_001185684,NP_001185685 Hs.181781 G-GAMMA-8|G-GAMMA-C|GNG8|GNG9|GNGT8 G protein cone gamma 8 subunit|G-gamma-9|OTTHUMP00000220019|OTTHUMP00000220020|OTTHUMP00000220021|OTTHUMP00000220022|g gamma-C|gamma-T2 subunit|guanine nucleotide binding protein gamma 9|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 protein-coding 1352530 GNL1 guanine nucleotide binding protein-like 1 The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq] 1580863 14702039,16344560,19851445,19912639,8180467,17525332,16702430,12477932,8889548,16341674 2794 AI433804,AK095071,AL831892,AL831942,BQ188153,DA044212,NM_005275,AB103601,AB202092,AL662800,AL662825,BA000025,BX000357,BX248518,BX927220,CH471081,CR388372,CR759912,CR936927,AK026391,AK293596,AK298042,AK301738,AK302480,AK316391,BC006343,BC013959,BC018366,BC063657,BM833876,BT006648,BU687484,CR592198,CR611263,CR625080,L25665,AL662822,CR847863 NP_005266,BAF31262,BAE78611,CAI18152,CAI17831,BAB63327,CAI18558,CAM26012,CAQ09053,EAX03294,EAX03295,CAQ07868,CAQ09920,CAQ09921,CAQ08501,BAG57062,BAG60340,BAG63202,BAG63768,BAH14762,AAH13959,AAH18366,AAH63657,AAP35294,AAA66492,P36915,Q0EFC6,Q6P458,Q86Z07,Q96QB8,ABM81689,ABM84852,ABM87095 Hs.118354,Hs.83147 DKFZp547E038|DKFZp547E128|FLJ37752|HSR1 GTP-binding protein HSR1|HSR1 GTP-binding protein|guanine nucleotide-binding protein-like 1 protein-coding 1343978 GNL2 guanine nucleotide binding protein-like 2 (nucleolar) 1580863 8822211,17353931,17081983,15635413,15489334,12477932,12429849,11790298,19615732,18029348 29889 NM_013285,AL034379,AL513220,CH471059,AA766044,AK130697,AK298358,AK307352,AK312915,BC000107,BC009250,DB452094,L05425 NP_037417,CAI20546,CAI15784,EAX07333,BAG60601,BAG35761,AAH00107,AAH09250,AAC37588,Q13823,ABM83109,ABW03493 Hs.75528 FLJ40906|HUMAUANTIG|NGP1|Ngp-1 autoantigen NGP-1|novel nucleolar guanosine 5'-triphosphate binding protein autoantigen|nucleolar G-protein gene 1|nucleolar GTP-binding protein 2|nucleolar GTPase protein-coding 1606313 GNL3 guanine nucleotide binding protein-like 3 (nucleolar) 15489334,15112336,14702039,14648588,12477932,12464630,12429849,11790298,11085516,16169070,19416921,19367581,19106111,19033382,18519946,18448670,18426907,18419830,17494866,17310849,17000763,17000083,16670719,16282439,16097049,16012751,15857956,15657390,15595646,19454010,20664182,17353931,18646696,19648109,19706044,19823871,20021940,20572164 26354 NM_206825,NM_014366,NM_206826,AC104446,CH471055,AF191018,AI028402,AK027514,AK027516,AK315484,AY825265,BC001024,BF732788,CF272475,CR598596,CR607914,CR608648,NG_027871 NP_996561,NP_055181,NP_996562,EAW65249,EAW65250,EAW65251,EAW65252,AAF09482,BAB55168,BAB55169,AAV74413,AAH01024,Q9BVP2,ACE87410,ACE86724,BAG37868 Hs.313544 C77032|E2IG3|MGC800|NS E2-induced gene 3 protein|NNP47|estradiol-induced nucleotide binding protein|guanine nucleotide-binding protein-like 3|novel nucleolar protein 47|nucleolar GTP-binding protein 3|nucleostemin protein-coding 1346519 GNL3L guanine nucleotide binding protein-like 3 (nucleolar)-like 737633,1580863 17034816,16251348,16189514,14702039,12477932 737633 54552 NM_019067,AL391139,CH471154,AK001475,AK022325,AK128277,BC003603,BC011720,BC022829,BQ674906,NG_021314,NM_001184819,HI574280 NP_061940,CAI40396,EAW93182,EAW93183,EAW93184,EAW93185,BAA91712,AAH03603,AAH11720,Q05DU1,Q9NVN8,NP_001171748,CBX47629 Hs.654677 FLJ10613|RP11-353K22.1 guanine nucleotide-binding protein-like 3-like protein|novel GTPase protein-coding 1605036 GNL3LP guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 12477932,14702039 80060 NG_005649,AC104113,AK022657,BC093802,BC112227 Q52LT0 Hs.435237 FLJ12595|GNL3LP pseudo 1342846 GNLY granulysin The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 9756476,2212946,19258923,19243819,19111751,19106590,19029983,18688023,18584314,18490721,18192122,17703412,17596262,17038537,16980658,16344560,15843520,15778384,15489334,15223905,12884856,12626573,12488100,12483306,12477932,12421959,12145461,11418670,10644038,10449094,9194222,9058801,8423048,2434598,2209093,20660289,19454696,19687290,19861007,20237496,20503287,20889547 10578 BC023576,BC063245,CR541859,DA932688,X05044,X54101,NM_012483,NM_006433,A00142,A07389,AC012454,CH471053,M85276,AA883466,AK296106,AK304728,AK308781,AK310057,AK311012,AK311537,AK311538,AK311657,GN344067 AAH23576,CAG46657,CAA28715,CAA38035,P22749,ABM83193,ABM86394,NP_036615,NP_006424,CAA00015,CAA00661,EAW99483,EAW99484,EAW99485,EAW99486,AAA59935,BAG58856,BAG65491,CAY55969 Hs.105806 519|D2S69E|LAG-2|LAG2|NKG5|TLA519 T-cell activation protein 519|T-lymphocyte activation gene 519|granulysin|lymphocyte-activation gene 2|lymphokine LAG-2 protein-coding 732912 GNMT glycine N-methyltransferase The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. The encoded protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). [provided by RefSeq] 1580863,1300048 15340920,10843803,19439180,19161160,19146867,19048631,19035462,18624901,17660255,17332283,16317120,16189514,15489334,14739680,14651980,12697024,12566309,12477932,11810299,11596649,9495250,9261130,6157075,2722853,20634891,18029348 27232 NM_018960,NG_008396,AF101475,AL158815,CH471081,AF101477,BC032627,X62250 NP_061833,AAF78289,CAI19462,EAX04123,EAX04124,AAF78290,AAH32627,CAA44164,Q14749,ABM81745,ABM84900 Hs.144914 glycine N-methyltransferase protein-coding 733936 GNPAT glyceronephosphate O-acyltransferase This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. [provided by RefSeq] 1580863,704404 9459311,9536089,10215861,16997000,16710414,15687349,15489334,14702039,12477932,11237722,11152660,10456321,9373149,9110174,8619474,8186247,8125298,6528320,2804060,16756494,16169070 8443 NM_014236,NG_008240,AF218233,AL117352,AL137801,CH471098,AB209882,AF035285,AF043937,AJ002190,AK222773,AK223304,AK297982,AK309994,AK311386,AK314181,BC000450,BE222957 NP_055051,AAG17547,CAI23093,CAI23094,CAI21987,CAI21988,CAI21989,EAW69953,BAD93119,AAB88177,AAC24505,CAA05242,BAD96493,BAD97024,BAG60291,BAG36862,AAH00450,O15228,Q53FI2,Q53H08,Q59EC9,Q5TBH8,Q71V38 Hs.498028 DAP-AT|DAPAT|DHAPAT DHAP-AT|OTTHUMP00000036148|acyl-CoA:dihydroxyacetonephosphateacyltransferase|acyl-coa:dihydroxyacetonephosphate acyltransferase|dihydroxyacetone phosphate acyltransferase|glycerone-phosphate O-acyltransferase protein-coding 2291823 GNPATP glyceronephosphate O-acyltransferase pseudogene 100130060 NG_007472,AC018555 pseudo 1349274 GNPDA1 glucosamine-6-phosphate deaminase 1 1580863 10964516,8747459,7584044,7577655,9438414,9714720,18029348,16344560,16189514,15489334,15372022,14702039,12965206,12616532,12477932,17207965 10007 AK296452,NM_005471,AC005740,AF035809,CH471062,AF029914,AF048826,AJ002231,AK022779,AK290686,BC001717,BC012853,BC020769,BC022322,BC024664,CA432951,CR597584,CR609510,CR619056,D31766,DA661926 BAH12360,NP_005462,AAC62119,AAB88748,EAW61890,EAW61891,EAW61892,EAW61893,AAB84217,AAC05123,CAA05259,BAG51114,BAF83375,AAH12853,AAH20769,AAH22322,BAA06544,P46926,ADQ32271 Hs.633853 GNP1|GNPDA|GNPI|GPI|HLN|KIAA0060 GNPDA 1|OTTHUMP00000222767|OTTHUMP00000222768|OTTHUMP00000222769|OTTHUMP00000222770|OTTHUMP00000222771|OTTHUMP00000222773|OTTHUMP00000222774|OTTHUMP00000222775|glcN6P deaminase 1|glucosamine-6-phosphate isomerase 1|oscillin protein-coding 1313596 GNPDA2 glucosamine-6-phosphate deaminase 2 1580863 20520848,20712903,20724581,20725061,20816152,20843981,20935630,18029348,19164386,19079261,14702039,12965206,12477932,20571754,20816195,19692490,19746409,19812171,19851340,19910641,19910938,20215397,17207965 132789 NM_138335,AC096586,CH471069,AB209904,AF247786,AK055639,AK129655,AK296051,AL834506,AY173948,BC015532 NP_612208,EAW93019,EAW93020,BAD93141,AAL95691,BAB70977,BAG58815,CAD39163,AAO49718,AAH15532,Q2VYF1,Q8TDQ7,ADQ31863 Hs.21398 GNP2|SB52 4921523I18Rik|GNPDA 2|OTTHUMP00000218298|OTTHUMP00000219325|OTTHUMP00000219326|glcN6P deaminase 2|glucosamine-6-phosphate isomerase 2|glucosamine-6-phosphate isomerase SB52|putative glucosamine-6-phosphate isomerase protein-coding 1351197 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 1580863,1625539 15489334,14702039,12477932,9972309,18675810 1625539 64841 NM_198066,AL139317,CH471061,AK001469,AK025575,AK090577,BC012179,BG717628,BQ182796,CA489597,CR617215,CR620026,CR622641,CA435370 NP_932332,EAW80614,EAW80615,EAW80616,EAW80617,BAC03482,AAH12179,Q96EK6 Hs.702056 FLJ10607|GNPNAT|Gpnat1 glucosamine 6-phosphate N-acetyltransferase|phosphoglucosamine acetylase|phosphoglucosamine transacetylase protein-coding 1346016 GNPTA glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase (mucolipidoses II and III) 2795 1603959 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase; EC 2.7.8.15) catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. GlcNAc-phosphotransferase is an alpha-2/beta-2/gamma-2 hexameric complex. Also see GNPTG (MIM 607838).[supplied by OMIM] 19617216,19197337,18190596,16835905,16630736,16465621,16299590,16200072,16120602,16116615,16094673,15489334,14702039,12477932,12168954,10574462,20881960,15342556,19634183,19659762,20147709,20379614,20489197 79158 NM_024312,AC063950,CH471054,AB033034,AI418963,AI479646,AK001821,AK056137,AL359588,AL832172,AM085438,AY687932,BC002779,BC042615,BC071687,BC094884,BC131787,CR749871,BP276948,BU754017,NG_021243 NP_077288,EAW97682,EAW97683,EAW97684,BAA86522,BAA91926,BAB71102,CAB94874,CAJ30014,AAV98624,AAH02779,AAH42615,AAH71687,AAH94884,AAI31788,CAH18711,Q3T906,Q68CM9,Q9BUA5,Q9NPW9,Q9NV34 Hs.46850 DKFZp762B226|GNPTA|ICD|KIAA1208|MGC4170 GlcNAc phosphotransferase|N-acetylglucosamine-1-phosphotransferase subunits alpha/beta|UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine|glcNAc-1-phosphotransferase subunits alpha/beta|glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase|stealth protein GNPTAB protein-coding 1353704 GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. GlcNAc-phosphotransferase is an alpha-2/beta-2/gamma-2 hexameric complex, the enzyme product of 2 genes, 1 encoded by a gene on chromosome 16 (GNPTG) and the other by a gene on chromosome 12 (GNPTAB; MIM 607840).[supplied by OMIM] 737633,1580863,1599045 15231747,19370764,18029348,15616553,15498874,15489334,12477932,12107412,11157797,10712439,3019310,17213182,19659762,19708128,19955174,20034096,20147709 737633,1599045 84572 CR612240,CR618970,CR606005,AE006467,AL031709,CH471112,AA513392,AF302786,AK126110,AK312067,AY203933,BC014592,BC131525,BU145878,BX398427,CD671181,CR597542,NM_032520,DT219524,NG_016985 Q96RZ2,Q9UJJ9,ABM81753,ABM84907,NP_115909,AAK61277,CAB56184,EAW85666,EAW85667,EAW85668,AAG27706,BAG35003,AAP34456,AAH14592,AAI31526 Hs.241575 C16orf27|GNPTAG|LP2537|RJD9 N-acetylglucosamine-1-phosphotransferase subunit gamma|UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma|glcNAc-1-phosphotransferase subunit gamma|n-acetylglucosamine-1-phosphotransferase, gamma subunit protein-coding 69083 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 2292541,704404,1580863 20634197,19453261,19489874,19535795,19567835,19640273,19849976,20118984,20424473,10832105,11875100,11278902,10391209,9484912,9414473,9202214,8889548,8784072,8529206,8145771,6760865,6090951,3511544,2863757,2671939,1767338,1682898,20484732,20734064,16754659,20529119,20138117,20188792,20389089,1310542,2867548,8692981,19403562,19190109,19086053,19064572,18980792,18959739,18959738,18477660,18467526,18463157,17692113,17680884,17605472,17557168,17456575,17220347,17202595,16359986,16157590,16061872,15809743,15578334,15562029,15546906,15490304,15489334,15283968,15229199,15138251,15062568,15001648,14726258,14594454,14565958,12969578,12788881,12770744,12633791,12477932,12447356,12054733,12040003,20400076 2292541 2796 NG_016457,NM_000825,NM_001083111,AC091185,CH471080,X15215,AL047164,BC067290,BC126437,BC126463,CB243067,M12578,X01059 NP_000816,NP_001076580,EAW63591,EAW63592,CAA33285,AAI26438,AAI26464,AAA35916,CAA25526,P01148,ADR82781 Hs.82963 GNRH|GRH|LHRH|LNRH GnRH-associated peptide 1|gonadotropin-releasing hormone 1|gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)|luliberin I|progonadoliberin I|progonadoliberin-1|prolactin release-inhibiting factor protein-coding 1347634 GNRH2 gonadotropin-releasing hormone 2 The protein encoded by this gene is a preproprotein that is cleaved to form a secreted 10 aa peptide hormone. The secreted decapeptide regulates reproduction in females by stimulating the secretion of both luteinizing- and follicle-stimulating hormones. Three transcript variants that encode unique proproteins but the same peptide hormone have been found for this gene. [provided by RefSeq] 1580863 17202595,15578334,15562029,15489334,15001648,14726258,12969578,12770744,12663744,12477932,12447356,11931351,11889221,11861490,11780052,11459794,1727812,9419371,19086053,19064572,18599546,18477660,18467526,17914092,17451432,17296196,16754659,19453261,19608641,20018426,20379614 2797 NM_001501,NM_178331,NM_178332,AF036329,AL121905,CH471133,AF036330,AF190640,BC069362,BC115399,BC115400,BF062277 NP_001492,NP_847901,NP_847902,AAC02980,CAC10338,CAC29100,CAC29101,EAX10557,EAX10558,EAX10559,AAC02981,AAG17539,AAH69362,AAI15400,AAI15401,O43555,Q9HBX7 Hs.129715 GnRH-II|LH-RHII OTTHUMP00000030076|OTTHUMP00000030077|luliberin II|luteinizing hormone-releasing hormone II|progonadoliberin II|progonadoliberin-2 protein-coding 737339 GNRHR gonadotropin-releasing hormone receptor This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq] 1580863,704404 16754659,20628612,11997175,11994356,11981042,11397871,11397842,11318785,11278883,10999776,10523035,10366411,10084584,10022417,9425890,9414473,9371856,9272108,9259321,8472841,7958384,7768323,7613048,7534732,1333190,12040003,8386108,10686191,19489874,19453261,19449676,19246515,19190109,19095769,19086053,19064572,18980792,18682503,18541137,18463157,18356273,18252959,17942747,17710733,17452338,17179725,17170088,16968799,16613990,16364974,16359986,16322390,16301116,16213849,15886197,15761034,15563546,15546906,15529183,15489334,15149726,15105440,14726258,14565958,14551223,12947046,12843188,12788881,12679486,12568864,12477932,12446597,12161512,12089350,12062898,12054603,12050282,20507982,20400076,20634197,18240029,19372239,19640273,19724914,19787259,19858197,20182875,20236028,20734064 2798 NM_000406,NM_001012763,NG_009293,AC079880,AF001952,CH471057,CS052866,U19602,U19603,Z99995,AY392011,BC113546,L03380,L07949,S60587,S77472,Z81148 NP_000397,NP_001012781,AAB71348,EAX05557,EAX05558,CAI72249,AAA63884,AAA63885,CAB17082,AAR92228,AAI13547,AAA35918,AAA35917,AAB26287,AAB33884,CAB03541,P30968,ADR83139 Hs.407587 GNRHR1|GRHR|LHRHR|LRHR gnRH receptor|gnRH-R|gonadotropin-releasing hormone (type 1) receptor 1|gonadotropin-releasing hormone receptor|leutinizing hormone releasing horomone receptor|leutinizing-releasing hormone receptor|luliberin receptor|type I GnRH receptor protein-coding 1343814 GNRHR2 gonadotropin-releasing hormone (type 2) receptor 2 The receptor for gonadotropin releasing hormone 2 (GnRH2) is encoded by the GnRH2 receptor (GnRHR2) gene. In non-hominoid primates and non-mammalian vertebrates, GnRHR2 encodes a seven-transmembrane G-protein coupled receptor. However, in human, the N-terminus of the predicted protein contains a frameshift and premature stop codon. In human, GnRHR2 transcription occurs but whether the gene produces a functional C-terminal multi-transmembrane protein is currently unresolved. Alternative splice variants have been reported. An untranscribed pseudogene of GnRHR2 is also on chromosome 14. [provided by RefSeq] 1580863 18577758,16754659,17296196,16406723,16189182,15761034,12538601,12444048,11861490,11707068,11352653,10396028,19453261,19086053,18240029,20398908,19657181 114814 AF403014,AL160282,AB239331,AY077708,AY081843,AY233132,DQ266410,AY233133,NR_002328 AAL27000,BAF35581,AAL89821,ABB82942,Q2MZ38,Q6XGY1,Q96P88,AAP74658 Hs.725150,Hs.711567 GnRH-II-R pseudo 4890150 GNRHR2P1 gonadotropin-releasing hormone (type 2) receptor 2 pseudogene 1 11013075,11707068 404718 AF403013,AL132778,NG_003256 pseudo 1314172 GNS glucosamine (N-acetyl)-6-sulfatase The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq] 1580863,1599248 15962010,17474147,19650410,3689315,17998446,16990043,16344560,15489334,14702039,12754519,12573255,12477932,9373149,8125298,3391615,3196333,1755850,1463457,20232353,12624138 1599248 2799 AK296759,AK300350,AK302443,AK304158,NG_008955,NM_002076,AC025262,CH471054,AA725727,AK054660,AK223484,AK291771,AK308094,AK308454,BC012482,BC017742,BC038967,BX486076,BX537363,CA447080,CR596768,CR612218,CR612741,DA333542,DA437901,Z12173 BAG59340,BAG62092,BAG63740,BAG65046,NP_002067,EAW97138,EAW97139,EAW97140,BAD97204,BAF84460,AAH12482,CAD97608,CAA78164,P15586,Q7Z3X3 Hs.334534 G6S|MGC21274 N-acetylglucosamine-6-sulfatase|glucosamine-6-sulfatase protein-coding 1322690 GOLGA1 golgi autoantigen, golgin subfamily a, 1 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This encoded protein is associated with Sjogren's syndrome. [provided by RefSeq] 1580863 20583170,9324025,17276477,16262725,15654769,15269279,14702039,12972563,12477932,10209123,16344560,17872946,20379614,8889549 2800 NM_002077,AL050012,AL354928,AL451125,CH471090,AB208858,AK302445,AK307789,AW237629,BC032853,BG699932,U51587,AA027278,DA324844 NP_002068,CAI39632,CAI39642,CAI14345,CAI14346,EAW87605,EAW87606,BAD92095,BAG63742,AAH32853,AAB81549,Q59HA1,Q5T165,Q92805,ABM83387 Hs.133469,Hs.59504 MGC33154|golgin-97 Golgin subfamily A member 1|gap junction protein, alpha 4, 37kD|golgi autoantigen, golgin subfamily a, 1 protein-coding 1347402 GOLGA2 golgi autoantigen, golgin subfamily a, 2 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq] 1580863 15194699,15229288,19242490,19109421,18167358,18045989,16964243,16489344,16189514,16097034,15796781,15489334,15164053,15037601,12665801,12477932,12270925,12111718,11855815,11781572,11739402,11739401,11718716,11703931,11696556,11591729,11306556,11285137,11035033,10769027,10744704,10560974,10487747,10209123,9753325,9628863,9478999,9346242,9150144,8557739,8315394,10931861,12788069,16169070,14623284,20197635,20936779,15101818,18029348,20086247 2801 NM_004486,AL590708,CH471090,CQ834570,AF248953,AW583140,AY823636,BC006381,BC014188,BC069268,BQ181201,BT007248,BX647920,L06147 NP_004477,CAX14866,CAX14867,EAW87762,EAW87763,EAW87764,EAW87765,CAH05500,AAF65550,AAV76025,AAH14188,AAH69268,AAP35912,CAI46071,AAA35920,Q08379,Q5HYE0,Q5PXD5,Q6ZPB4,CAI13841 Hs.155827 GM130|MGC20672 130 kDa cis-Golgi matrix protein|GM130 autoantigen|Golgi matrix protein GM130|Golgin subfamily A member 2|SY11 protein|golgi autoantigen, golgin subfamily a, 2|golgin-95 protein-coding 1604610 GOLGA2L1 golgi autoantigen, golgin subfamily a, 2-like 1 16344560,14702039,12477932,10737800 55592 BC127181,BC141930,BX504274,BX647364,DB014223,BQ366018,NR_036632,NR_024261,AC010203,CH471054,AF217995,AK124885,AK131330,AL137680,AL137720,AL359652,BC034587,BC048272,BC092435,BC109389,BC110077 AAI41931,Q32LX7,Q6ZN85,Q9HBQ8,EAW97621,EAW97622,AAG17237,BAD18490,CAB70892,AAI09390 Hs.524660,Hs.645240 DKFZp434A0411|DKFZp434K1926|DKFZp434M0331|GOLGA2L1 Golgin subfamily A member 2B|golgi autoantigen, golgin subfamily a, 2-like 1|golgin A2-like 1|golgin subfamily A member 2-like protein 1 pseudo 1343463 GOLGA2LY1 golgi autoantigen, golgin subfamily a, 2-like, Y-linked 1 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq] 12815422 84559 NR_001555,NG_004755,AC012005,AF332229,NG_017010 AAK13481 Hs.531603 GOLGA2LY|GOLGA2LY1|GOLGA2P2 golgi autoantigen, golgin subfamily a, 2-like, y-linked pseudo 1603462 GOLGA2LY2 golgi autoantigen, golgin subfamily a, 2-like, Y-linked 2 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq] 12815422 401634 NR_002195,NG_004755,AC006328,AF332229 AAK13481,Q96RM8 Hs.531603 GOLGA2LY2|GOLGA2P3 pseudo 1313187 GOLGA3 golgi autoantigen, golgin subfamily a, 3 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. 1580863 8315394,9295333,17118120,17081983,16870622,16341674,15951434,15829563,15489334,14702039,14522980,12477932,12130652,12036294,10791974,10737800,10209123,8889548,16714286,20562859,16543716,17643375,17711851,20379614,20170975 2802 NM_005895,AC127070,AC136467,CH471218,AB027133,AF485338,AK092223,BC037937,BC060826,BC142658,BC146675,BF902971,BM842318,BM981309,BQ898615,D63997,L06148,NM_001172557 NP_005886,EAW54817,EAW54818,EAW54819,EAW54820,BAB71953,AAL93149,AAH60826,AAI42659,AAI46676,BAA23661,AAA35921,Q08378,NP_001166028 Hs.507333 GCP170|MEA-2 Golgi complex-associated protein of 170 kD|Golgi membrane associated protein|Golgi peripheral membrane protein|Golgin subfamily A member 3|SY2/SY10 protein|golgi autoantigen, golgin subfamily a, 3|golgi complex-associated protein of 170 kDa|golgin-160|golgin-165|male enhanced antigen-2 protein-coding 1352947 GOLGA4 golgi autoantigen, golgin subfamily a, 4 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 11303027,11149944,10231028,10209123,9013329,8537393,8626529,1400343,18849489,18394601,18308930,17081983,15870108,15654769,15302935,15265687,14718928,14718574,14702039,12972563,12477932,10737800 2803 NM_002078,AC097359,CH471055,AA779873,AB209693,AF273047,AK022389,AK290550,AK300192,AK307429,AY531221,BC023648,BC045543,BC050444,BX640663,U31906,U41740,X76942,X82834,AW881112,NM_001172713 NP_002069,EAW64494,EAW64495,EAW64496,BAD92930,AAG34907,BAF83239,BAG61965,AAS98194,AAH45543,AAH50444,AAC51791,AAC50434,CAA54261,CAA58041,Q13439,Q49A56,Q59EW8,Q5GHI6,Q86W71,Q9H2G3,AAI72405,NP_001166184 Hs.344151 GCP2|GOLG|MU-RMS-40.18|p230 256 kDa golgin|72.1 protein|Golgin subfamily A member 4|OTTHUMP00000208897|OTTHUMP00000209805|golgi autoantigen, golgin subfamily a, 4|golgin-240|golgin-245|protein 72.1|trans-Golgi p230 protein-coding 1349989 GOLGA4P1 GOLGA4 pseudogene 1 9841928 192131 NG_001019,AB019439 pseudo 1351575 GOLGA4P2 GOLGA4 pseudogene 2 378711 1317779 GOLGA5 golgi autoantigen, golgin subfamily a, 5 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins, whose members localize to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. 1580863,1599259 12538640,9915833,17081983,15718469,15592455,15489334,15144186,15004235,12699642,12656988,12508121,12477932,9443391,2734021,18029348 1599259 9950 NG_023248,BX248744,CR608254,NM_005113,AL132987,CH471061,AF085199,AJ132949,AL702150,AW103620,AY644768,BC010134,BC023021,AK293077,AK303789 AAH23021,CAD66551,Q8TBA6,NP_005104,EAW81502,AAD09753,CAB36967,AAV85456,BAF85766,BAG64746 Hs.104320 GOLIM5|RFG5|ret-II Golgin subfamily A member 5|RET-fused gene 5 protein|cell proliferation-inducing gene 31 protein|golgi autoantigen, golgin subfamily a, 5|golgi integral membrane protein 5|golgin-84 protein-coding 1606654 GOLGA6 golgi autoantigen, golgin subfamily a, 6 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq] 16344560,12915487,12477932,11896453,11509185,11161787,11156619 342096 NM_001038640,AC013486,AF266285,AF263742,AK292574,BC131515,DB039513 NP_001033729,AAF72535,AAF72196,BAF85263,AAI31516,Q9NYA3,AAI56410,AAI57133 Hs.546408,Hs.672474 FLJ75859|GLP|GOLGA6 Golgin linked to PML|Golgin subfamily A member 6A|golgi autoantigen, golgin subfamily a, 6|golgi autoantigen, golgin subfamily a, 6A|golgi autoantigen, golgin subfamily a, member 6|golgin-like protein protein-coding 1354461 GOLGA6B golgi autoantigen, golgin subfamily a, 6B This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq] 16572171,12915487,11896453,11509185,11161787,11156619 55889 NM_018652,AC100827,CH471136,AC009712 NP_061122,EAW99264,EAW99265,EAW99266,EAW99267,EAW99268,EAW99269,A6NDN3,AAI69330 Hs.546408 GOLGA|GOLGA6D Golgin subfamily A member 6B|Putative golgin subfamily A member 6D|golgi autoantigen, golgin subfamily a, 6B|golgin-like protein|putative golgin subfamily A member 6B|putative golgin subfamily A member 6D protein-coding 2299186 GOLGA6C golgi autoantigen, golgin subfamily a, 6C 16572171 653641 NM_001164404,AC068338 NP_001157876,A6NDK9 Hs.540230 Golgin subfamily A member 6C|golgi autoantigen, golgin subfamily a, 6C|putative golgin subfamily A member 6C protein-coding 2299185 GOLGA6D golgi autoantigen, golgin subfamily a, 6D 16572171 653643 NM_001145224,AC068338 P0CG33,NP_001138696 Hs.672474 golgi autoantigen, golgin subfamily a, 6D|golgin A6 family, member D|putative golgin subfamily A member 6D protein-coding 3517752 GOLGA6L1 golgin A6 family-like 1 12477932,14702039 283767 AC116165,AK097517,BC127816,NM_001001413 AAI27817,NP_001001413,Q8N7Z2 Hs.531569 FLJ36131|FLJ40198 Golgin subfamily A member 6-like protein 1|golgi autoantigen, golgin subfamily a, 6-like 1|golgi autoantigen, golgin subfamily a-like protein-coding 2881210 GOLGA6L10 golgin A6 family-like 10 16572171 647042 AC139425,NM_001164465 A6NI86,NP_001157937 Hs.459120 golgi autoantigen, golgin subfamily a, 6-like 10|golgin subfamily A member 6-like protein 10-like|putative golgin subfamily A member 6-like protein 10 protein-coding 2881562 GOLGA6L11P golgin A6 family-like 11, pseudogene 12815422 360024 AC023274,NG_004755 GOLGA6L15P pseudo 2881560 GOLGA6L12P golgin A6 family-like 12, pseudogene 12815422 360025 AC012005,NG_004755 pseudo 2881559 GOLGA6L13P golgin A6 family-like 13, pseudogene 12815422,9847074 360026 AC006328,NG_004755 pseudo 2881541 GOLGA6L14P golgin A6 family-like 14, pseudogene 12815422,9847074 360027 AC006328,NG_004755 pseudo 3077624 GOLGA6L15P golgin A6 family-like 15, pseudogene 100287730 AC023274 pseudo 3051034 GOLGA6L16P golgin A6 family-like 16, pseudogene 100287845 AC006328,NG_021930 pseudo 3207436 GOLGA6L3 golgin A6 family-like 3 16572171 100133220 AC044860,AK301968,XM_002343391,XM_003118679 A6NEY3,BAG63381,XP_002343432,XP_003118727 Hs.454625 FLJ61448 Putative golgin subfamily A member 6-like protein 3|golgi autoantigen, golgin subfamily a, 6-like 3|golgin A6 family-like 3|hypothetical golgin-like LOC100133220 protein-coding 3460527 GOLGA6L4 golgin A6 family-like 4 12477932,14702039 161527 AC136698,AK090778,AK098200,BC101294,XM_929030 A6NEF3,AAI01295,XP_934123 Hs.534573 golgi autoantigen, golgin subfamily a, 6-like 4|golgin A6 family-like 4 protein-coding 2816669 GOLGA6L6 golgin A6 family-like 6 14702039 727832 AC131280,AK093450,NM_001145004 BAC04170,NP_001138476,Q8N9W7 Hs.125917,Hs.569472 FLJ36131 golgi autoantigen, golgin subfamily a, 6-like 6|golgi autoantigen, golgin subfamily a-like|golgin A6 family-like 6 protein-coding 4107324 GOLGA6L7P golgin A6 family-like 7 (pseudogene) 728310 AC055876,AK302238,XR_110303,XR_111486 BAH13656 Hs.589351 GOLGA6L7 pseudo 1351077 GOLGA7 golgi autoantigen, golgin subfamily a, 7 737633 14522980,12477932,11827452,11752456,11042152,16000296,15489334,19913121,20628086 737633 51125 NM_016099,NM_001002296,AC009630,CH471080,AB104615,AF068291,AF125102,AK026613,AL695304,AV650886,BC001227,BC012032,BG939345,BI553491,CR596558,CR606993,CR609818,CR616191,CR617602,NM_001174124 NP_057183,NP_001002296,EAW63258,EAW63259,BAC82368,AAF65180,AAD39919,AAH12032,Q7Z5G4,NP_001167595 Hs.654773 GCP16|GOLGA3AP1|GOLGA7A|HSPC041|MGC21096|MGC4876 Golgi complex-associated protein of 16kDa|Golgin subfamily A member 7|golgi autoantigen, golgin subfamily a, 7|golgi complex-associated protein of 16 kDa protein-coding 1312882 GOLGA7B golgi autoantigen, golgin subfamily a, 7B 15489334,15164054,12477932 401647 NM_001010917,AL358938,CH471066,BC008047,BC020255,BC110810 NP_001010917,CAI14276,EAW49893,AAI10811,Q2TAP0 Hs.567524 C10orf132|C10orf133|MGC131701|bA451M19.3|bA459F3.4 Golgin subfamily A member 7B|golgi autoantigen, golgin subfamily a, 7B|golgi autoantigen-like protein-coding 1604639 GOLGA8A golgi autoantigen, golgin subfamily a, 8A The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 14702039,12477932,10677249,10660574,10048485 23015 NM_181077,NR_027409,AC025678,AB020662,AF163441,AF204231,AK123221,AL117569,AL137686,BC032774,BC064341,BC093673,BC104800,BC144609,BC150329,BC152410,BX648160,BX648575,CR749361 NP_851422,BAA74878,AAF34136,AAF28463,CAH56400,CAH56372,AAH32774,AAH93673,AAI04801,AAI44610,AAI50330,AAI52411,CAH18214,A7E2F4,Q52M46,Q659D1,Q659E6 Hs.182982,Hs.720151 GM88 88 kDa Golgi matrix protein|88-kDa golgi protein|GM88 autoantigen|Golgin subfamily A member 8A|OTTHUMP00000160034|golgi autoantigen, golgin subfamily a, 8A|golgin-67 protein-coding 1602144 GOLGA8B golgi autoantigen, golgin subfamily a, 8B 16572171,15489334,14702039,10677249,10660574,12477932,20835239 440270 NM_001023567,NR_027410,AC027139,AK097551,AL133593,BC143254,BC144610,BX647673,CR594874 NP_001018861,AAI43255,AAI44611,A8MQT2 Hs.720151 GOLGA5|KIAA0855 Golgin subfamily A member 8B|OTTHUMP00000159946|golgi autoantigen, golgin subfamily a, 8B|golgin-67 protein-coding 1603464 GOLGA8C golgi autoantigen, golgin subfamily a, 8C 16344560,16572171,12477932 729786 DB085317,NR_027411,AC131280 A6NN73 Hs.648235 pseudo 1625096 GOLGA8D golgi autoantigen, golgin subfamily a, 8D 15489334,12477932 100132979 BC110417,NR_027407,AC116165,AK292534 BAF85223,AAI10418,Q0D2H9 Hs.648235,Hs.510812 FLJ77521|GOLGA8D|MGC102859 pseudo 1605499 GOLGA8E golgi autoantigen, golgin subfamily a, 8E 12477932 390535 AC100757,AK310240,AL041315,BC063309,DB516755,DQ309037,NR_033350 ABD73921,Q1A5Y0 Hs.454647,Hs.567922,Hs.648235 pseudo 1604677 GOLGA8F golgi autoantigen, golgin subfamily a, 8F 18226259,17672918,16344560,15489334,14702039,12477932 100132565 AC091304,AC139511,AK057241,AL833871,BC144672,BC150302,DB071191,DQ309038,NR_033351,XM_003118475,XM_003118476,XM_003118477,XM_003118478 CAD38728,AAI50303,ABD73922,XP_003118523,XP_003118524,XP_003118525,XP_003118526 Hs.510812,Hs.648235 DKFZp434P162|FLJ32679|FLJ77521|MGC102859|MGC104696|MGC167066 pseudo 1606114 GOLGA8G golgi autoantigen, golgin subfamily a, 8G 14702039,12477932 283768 AC138749,AL137398,BC066774,BC125193,BC125194,BC099913,NR_033353 AAI25194,AAI25195,Q08AF8,AAH99913 Hs.169639,Hs.510812 DKFZp434K052 pseudo 4106655 GOLGA8H golgin A8 family, member H 16572171 728498 AC026150,XM_001724395,XM_002343357,XM_003118674 A6NC78,XP_001724447,XP_002343398,XP_003118722 Hs.665282 GOLGA6L11 Golgin subfamily A member 8-like protein 1|golgi autoantigen, golgin subfamily a, 6-like 11|golgin A8 family, member H protein-coding 4105865 GOLGA8J golgin A8 family, member J 16572171 653073 AC120045,XM_001724382,XM_001724383,XM_002343337,XM_003118666 A6NMD2,XP_001724434,XP_001724435,XP_002343378,XP_003118714 Golgin subfamily A member 8-like protein 3|golgin A8 family, member J protein-coding 2299191 GOLGA9P golgi autoantigen, golgin subfamily a, 9 pseudogene 14702039,12477932 283796 NR_024074,AC091565,AK093104 BAC04058 Hs.375441 FLJ35785|GOLGA8I|GOLGA9P pseudo 1351894 GOLGB1 golgin B1, golgi integral membrane protein 1580863 16169070,7691276,15308636,8198703,18487259,17475246,15231748,15004235,20936779,12429822,14718574,12477932,11927603,11590181,11035033,10931861,10744704,9490716,7802676,15718469,18029348 2804 AC119736,AC133750,CH471052,AB371588,AK296903,NM_004487,AK298986,AK300437,BC065301,BF061034,BM475510,D25542,X75304 NP_004478,EAW79502,EAW79503,EAW79504,BAG48317,BAG59460,BAG61079,BAG62161,BAA05025,CAA53052,Q14789,Q6PG47 Hs.213389 GCP|GCP372|GIANTIN|GOLIM1 372 kDa Golgi complex-associated protein|Golgin subfamily B member 1|golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1|golgi integral membrane protein 1|golgin B1, golgi integral membrane protein|macrogolgin protein-coding 1322138 GOLIM4 golgi integral membrane protein 4 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq] 1580863 9201717,18029348,18391951,17605763,16344560,15331763,15004235,12207053,20130081,12191016,11598199,12477932 27333 NM_014498,AC069243,AC117467,CH471052,AK307557,AK307718,BC143232,BC143233,BC171748,BF130574,BM925724,C18867,DA028346,U55853 NP_055313,EAW78564,EAW78565,EAW78566,AAB58419,O00461 Hs.143600 GIMPC|GOLPH4|GPP130|P138 130 kDa golgi-localized phosphoprotein|Golgi integral membrane protein 4|OTTHUMP00000213060|cis Golgi-localized calcium-binding protein|golgi integral membrane protein, cis|golgi phosphoprotein 4|golgi phosphoprotein of 130 kDa|golgi-localized phosphoprotein of 130 kDa|type II Golgi membrane protein protein-coding 1322921 GOLM1 golgi membrane protein 1 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes protein synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this encoded protein has been observed to be upregulated in response to viral infection. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 1580863 12029628,20501332,10831838,19291786,19204163,19008260,18953438,18781151,18543251,18004786,17662025,16740002,16335952,16303743,16169070,15489334,14702039,12975309,12754519,12477932,12359426,12191016,12133958,20570408,20574532,20592574,19403029,19399652,17207965,16344560,17998437,18029348,19596473,19749441,20379614 51280 NM_016548,AF460419,AF460486,AJ426326,AL161447,CH471089,CS051441,CS300831,AF236056,AI929234,AJ420432,AK027717,AK074188,AK075542,NM_177937,AK075557,AK092943,AL533767,AY358593,BC001740,BQ216766,CR457201,CR623888,CA446701,DA116177 NP_808800,NP_057632,AAM87790,AAM87857,CAD32484,CAH73152,EAW62705,EAW62706,CAI72214,CAK32495,AAF44663,BAG51371,BAB85012,BAC11685,BAG52167,AAQ88956,AAH01740,CAG33482,Q5VZE3,Q8NBJ4,Q8TED8,ADQ32385 Hs.494337 C9orf155|FLJ22634|FLJ23608|GOLPH2|GP73|PSEC0257|bA379P1.3 Golgi membrane protein 1|golgi membrane protein GP73|golgi phosphoprotein 2|golgi protein, 73-kD protein-coding 1349293 GOLPH3 golgi phosphoprotein 3 (coat-protein) The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq] 1580863 19553991,16263763,15489334,14702039,12477932,11042173,19624311,19837035,20026658,20379614 64083 AC022444,AC025178,AC025181,CH471118,NM_022130,CQ783228,AJ296152,AK057544,AK075077,AK075156,AK092604,AK128510,AK293368,AK301588,AL133078,BC012123,BC033725,BC063586,CR598328,CR605605,CR616025,CR624070 NP_071413,EAX10780,EAX10781,EAX10782,CAF86422,CAC13124,BAG51933,BAG52061,BAC11438,BAG52580,BAG54686,BAG56882,BAG63078,CAB61398,AAH12123,AAH33725,AAH63586,Q9H4A6 Hs.408909 FLJ90675|GOPP1|GPP34|MIDAS Golgi phosphoprotein 3|coat protein GPP34|coat-protein|golgi peripheral membrane protein 1, 34 kDa|golgi protein|golgi-associated protein|mitochondrial DNA absence factor protein-coding 1347625 GOLPH3L golgi phosphoprotein 3-like The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq] 16344560,14702039,12477932,11042173,17207965,20379614 55204 NM_018178,AL356292,AL356356,CH471121,AJ296153,AK001549,AK315594,BC013870,BI550986,BQ130668,BQ268076,CR622887,DA513375,AK300635 NP_060648,CAI13650,CAI15495,EAW53526,EAW53527,CAC13125,BAA91750,BAG37966,AAH13870,Q9H4A5,ADQ31898,BAH13319 Hs.203699 FLJ10687|GPP34R GPP34-related protein|Golgi phosphoprotein 3-like|OTTHUMP00000032941 protein-coding 1604347 GOLSYN Golgi-localized protein Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM] 17611281,16750881,16344560,16157705,15656992,15459722,14702039,12477932,12107410,10819331,8889548,16169070,16713569,20379614 55638 NM_001099744,NM_001099743,NM_001099746,NM_001099745,NM_001099749,NM_001099748,NM_001099747,NM_001099750,NM_017786,NM_001099752,NM_001099751,NM_001099755,NM_001099754,NM_001099753,NM_001099756,BG702715,BU607867,CA395128,CR607313,DA155137,DA530258,DA773983,DA787454,DA803330,DB127917,DB155885,DC350594,DN993094,AC079061,AB040905,AB195676,AB195677,AB195678,AB195679,AK000373,AK055246,AK090559,AK091374,AK096558,AK290469,AL713645,CH471060,AL834406,AY705385,BC012082,AK297182 NP_001093214,NP_001093213,NP_001093216,NP_001093215,NP_001093219,NP_001093218,NP_001093217,NP_001093220,NP_060256,NP_001093222,NP_001093221,NP_001093225,NP_001093224,NP_001093223,NP_001093226,Q9NX95,EAW91935,EAW91936,EAW91937,BAA95996,BAD72976,BAD72977,BAD72978,BAD72979,BAA91121,BAG52185,BAG52343,BAG53323,BAF83158,CAD28457,CAD39068,AAU93914,AAH12082,BAH12518 Hs.390738 FLJ20366|GOLSYN|KIAA1472|OCSYN|SNPHL|SYBU GOLSYN A protein|GOLSYN B protein|GOLSYN C protein|Golgi-localized protein|golgi-localized syntaphilin-related protein|implicated in syntaxin trafficking in neurons|microtubule-associated protein|syntabulin|syntaphilin-like|syntaxin-1-binding protein protein-coding 1346868 GOLT1A golgi transport 1 homolog A (S. cerevisiae) 737633 16710414,15489334,15221005,14702039,12477932,10406798,17207965,19536175 737633 127845 NM_198447,AL592114,CH471067,AB075871,AK124645,BC058832 NP_940849,CAH71227,EAW91508,BAD38653,BAC85915,AAH58832,Q6ZVE7,ADQ32124 Hs.532401 CGI-141|FLJ42654|GOT1|HMFN1187|MGC62027|RP11-203F10.3|YMR292W hGOT1b|putative protein product of HMFN1187|vesicle transport protein GOT1A protein-coding 1349948 GOLT1B golgi transport 1 homolog B (S. cerevisiae) 17207965,11256614,16344560,15489334,12975309,12477932,12414650,11230166,10810093,10406798,12761501 51026 NM_016072,AC006559,CH471094,AA910170,AB097020,AF068292,AF151899,AK026999,AK309736,AK310889,AK311331,AK311920,AL136571,AY358975,BC012455,CR457389,DA579356 ADQ32664,NP_057156,EAW96439,EAW96440,EAW96441,EAW96442,EAW96443,BAC77373,AAF65181,AAD34136,BAG34861,CAB66506,AAQ89334,AAH12455,CAG33670,Q9Y3E0 Hs.62275 CGI-141|GOT1|YMR292W hGOT1a|putative NF-kappa-B-activating protein 470|vesicle transport protein GOT1B protein-coding 1606548 GON4L gon-4-like (C. elegans) 18029348,16710414,16545939,15489334,14702039,12477932,11230166,10997877,9373149,8125298,17297563,20379614 54856 NM_001037533,NM_032292,AL139128,AL162734,CH471121,AB046826,AB195687,AB195688,AB232668,AK000210,AK022985,AK026693,AK098734,AK222851,AK315191,AL136565,AY335490,AY335491,AY335492,BC036740,BC052260,BC064933,BC071650,BC114629,BC115703,BC117557,BX537764,BX648043,BX648802,CR598521,CR618164 NP_001032622,NP_115668,CAH69947,EAW53029,EAW53030,EAW53031,EAW53032,EAW53033,EAW53034,EAW53035,EAW53036,BAB13432,BAF51556,BAF51557,BAF51560,BAA91011,BAB14347,BAB15528,BAC05397,BAD96571,BAG37631,CAB66500,AAR01260,AAR01261,AAR01262,AAH36740,AAH52260,AAH64933,AAH71650,AAI14630,AAI15704,AAI17558,CAD97829,CAH10549,Q14BN2,Q1ED43,Q3T8J9,Q53GT0,Q6PHZ4,Q8N7A2,Q9H5U2,Q9H986,Q9NXJ9,CAX15001,CAX15049 Hs.656361 DKFZp761I241|FLJ12923|FLJ20203|FLJ23040|GON-4|GON4|KIAA1606|MGC138817|MGC138818|RP11-101O6.1|RP11-243J18.4 2610100B20Rik|GON-4-like protein|YY1AP-related protein1|gon-4 homolog protein-coding 1319891 GOPC golgi associated PDZ and coiled-coil motif containing PIST is a PDZ domain-containing Golgi protein. PDZ domains contain approximately 90 amino acids and bind the extreme C terminus of proteins in a sequence-specific manner.[supplied by OMIM] 1580863 20130090,11707463,11384996,18754678,17158866,16882988,16646955,16192284,16189514,16012170,15951434,15546864,15489334,15358775,15317815,15144186,14574404,14570915,12885772,12661006,12538861,12477932,12471024,12372286,12149515,11520064,11162552,9843494,16344560,18029348,16316992,17207965 57120 NM_001017408,NM_020399,AL589939,CH471051,Z85999,AB209385,AF287894,AF450008,AJ420540,AK025074,AK314486,AY033606,BC009553,BX419592,DA109449 NP_001017408,NP_065132,CAH70198,CAH70199,EAW48204,EAW48205,CAI43172,CAI43173,BAD92622,AAG00572,AAL47160,AAK57733,AAH09553,Q9HD26,ADQ31799 Hs.191539 CAL|FIG|GOPC1|PIST|dJ94G16.2 CFTR-associated ligand|Golgi associated PDZ and coiled-coil motif containing protein|Golgi-associated PDZ and coiled-coil motif-containing protein|PDZ protein interacting specifically with TC10|PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10|dJ94G16.2 PIST|fused in glioblastoma protein-coding 1603372 GORAB golgin, RAB6-interacting This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq] 18997784,16710414,15781263,15489334,14702039,12783284,12477932,20849854,18029348,19681135,19951712 92344 NM_152281,NG_012237,NM_001146039,NR_027397,AL162399,CH471067,AF143889,AK021814,AK057661,AK308339,BC035999,BC047476,BC064945 NP_689494,NP_001139511,CAI15420,CAI15421,EAW90878,EAW90879,EAW90880,AAD32702,BAB13903,BAG51949,AAH47476,AAH64945,Q5T7V8 Hs.183702 FLJ11752|GO|MGC51263|MGC70512|NTKLBP1|SCYL1BP1 N-terminal kinase-like-binding protein 1|NTKL-binding protein 1|OTTHUMP00000033165|RAB6-interacting golgin|SCY1-like 1 binding protein 1|SCY1-like 1-binding protein 1|SCYL1-BP1|SCYL1-binding protein 1|hNTKL-BP1 protein-coding 1348402 GORASP1 golgi reassembly stacking protein 1, 65kDa The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Several alternatively spliced transcript variants of this gene have been identified, but their full-length natures have not been determined. [provided by RefSeq] 1580863 15678101,16489344,15888544,15834132,15576368,15489334,15231748,14702039,12839990,12543795,12477932,12111718,11815631,11781572,11739402,11739401,11706049,11447294,11285137,11050165,9628863,9346242,10487747,19913121,20628086,20937827,19581411,19840934,20083603,20214750,17207965 64689 NM_031899,AC138124,CH471055,AJ409349,AK001574,AK027096,AK057043,AK091168,AK124755,AK300271,AK303847,AW082955,BC008928,BC064624,BC075854,BC103826,BC103827,CR603340 NP_114105,EAW64552,EAW64553,EAW64554,EAW64555,EAW64556,EAW64557,EAW64558,EAW64559,EAW64560,CAC35160,BAG51850,BAC03598,BAG54090,BAG62032,BAG64790,AAH08928,AAH75854,AAI03827,AAI03828,Q9BQQ3,ADQ31932 Hs.613614 FLJ23443|GOLPH5|GRASP65|MGC118894|MGC118897|P65 Golgi peripheral membrane protein p65|Golgi phosphoprotein 5|Golgi reassembly and stacking protein 1|Golgi reassembly and stacking protein, 65 kDa|Golgi reassembly-stacking protein 1|OTTHUMP00000208961|golgi reassembly-stacking protein of 65 kDa protein-coding 736034 GORASP2 golgi reassembly stacking protein 2, 55kDa The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in establishing the stacked structure of the Golgi apparatus. [provided by RefSeq] 632865 19734545,19840934,20083603,18434598,17081983,16964243,16501559,16189514,15489334,14702039,12477932,11815631,11739402,11739401,11408587,11101516,10487747,9373149,8125298,18385516,21235525,20608975,20595579 632865 26003 NM_015530,AC010092,CH471058,AI052563,AK023082,AK023201,AK027202,AK027349,AK125761,AK225810,AK293640,AK296698,AK298020,AK298771,AK315508,AL117430,BC001408,BC007770,BG034906,CR608108,BQ004408,DC399516,NM_001201428 NP_056345,AAY15076,EAX11225,EAX11226,EAX11227,BAB14395,BAB14459,BAB55054,BAG57095,BAG59292,BAG60323,BAG60913,CAB55919,AAH07770,Q9H8Y8,ABM83641,ABM86891,NP_001188357 Hs.431317 DKFZp434D156|FLJ13139|GOLPH6|GRASP55|GRS2|p59 Golgi reassembly-stacking protein 2|golgi phosphoprotein 6|golgi reassembly stacking protein 2|golgi reassembly-stacking protein of 55 kDa protein-coding 737606 GOSR1 golgi SNAP receptor complex member 1 This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 70749,1298632,1580863 10747018,15215310,8636227,16571679,15489334,15004235,14702039,12477932,12388752,11042152,10198168,9653160,8638159,11927603,12121660,9647643,9325254,9094723,20562859 70749,1298632 9527 NM_001007024,NM_004871,NM_001007025,AC006050,AC011840,AF229797,CH471159,AF047438,AF073926,AK000606,AK074298,AK128816,AK291381,AK298714,AL049346,BC012620,BC040072,BC040471,BE785872,BG654545,CB054624 NP_001007025,NP_004862,NP_001007026,AAK01856,EAW51229,EAW51230,EAW51231,AAC39889,AAD12945,BAF84070,BAG60870,AAH12620,AAH40471,O95249,Q96QI9,Q9BZZ3 Hs.462680 GOLIM2|GOS-28|GOS28|GOS28/P28|GS28|P28 28 kDa Golgi SNARE protein|28 kDa cis-Golgi SNARE p28|Golgi SNAP receptor complex member 1|Golgi SNARE 28 kDa|cis-golgi SNARE|golgi integral membrane protein 2 protein-coding 731739 GOSR2 golgi SNAP receptor complex member 2 This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 68203,1580863 19584346,20379614,9349823,19057520,16341674,15781476,15489334,12477932,11927603,11035026,10198168,9647643,9094723,10903204,21076409 68203 9570 NM_004287,NM_054022,NM_001012511,AC005670,CH471231,AF007548,AF229796,BC009710,BC034762,BM846811,CR592527,AK290890 NP_004278,NP_473363,NP_001012529,EAW57694,EAW57695,EAW57696,EAW57697,EAW57698,EAW57699,EAW57700,AAB82651,AAK01855,BAF83579,AAH09710,AAH34762,O14653,Q8N4B8,ABM82387,ABM85564 Hs.463278 Bos1|GS27 27 kDa Golgi SNARE protein|Golgi SNAP receptor complex member 2|membrin protein-coding 735827 GOT1 glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq] 1300048,2302802,1580863 20205615,2241899,2182221,2731362,6391741,8396422,7060339,19393479,19370784,19012630,18752324,18242760,17907318,16681433,16344560,15489334,15306699,15164054,12480555,12477932,10360399,9110174,8619474,6397370,3207426,2777255,2225456,1974457,225064,8349677,16169070,17877759,20201926,20029029 2302802 2805 EB387028,M37400,HB922155,HC979564,AF080467,AL391684,CH471066,AF052153,AK293483,AK301916,AK309174,AK312684,AY513279,BC000498,CR598904,CR601723,CR605482,CR606661,CR615083,CR616132,CR619243,CR620721,CR621846,CR622320,CR625110,CR625122,CR626608,DA581933,NM_002079 AAA35563,P17174,Q2TU84,CBF96059,CBV09579,NP_002070,AAC32851,CAH73859,EAW49868,EAW49869,AAC28622,BAH11518,BAH13585,BAG35564,AAT08032,AAH00498 Hs.500756 GIG18 aspartate aminotransferase, cytoplasmic|glutamate oxaloacetate transaminase 1|growth-inhibiting protein 18|transaminase A protein-coding 1602185 GOT1L1 glutamic-oxaloacetic transaminase 1-like 1 17494625,12477932 137362 NM_152413,AC130304,CH471080,BC029504,BM559469,HC902758,HC914859,FJ695190 NP_689626,EAW63345,EAW63346,AAH29504,Q8NHS2,CBN65834,CBN71667 Hs.380740 MGC33309 glutamate oxaloacetate transaminase 1-like protein 1|putative aspartate aminotransferase, cytoplasmic 2|transaminase A-like protein 1 protein-coding 734091 GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. 1300048,2302802,1580863 6930651,6397370,5450376,3997814,3207426,2899080,2777255,752471,376500,16169070,17353931,4052435,2182221,2567216,2731362,9537447,17728674,17442055,16212419,15489334,14702039,12477932,9373149,8125298,7559589,7225087,7114792,17877759,19305408,19834535,8349677,20877624 2302802 2806 NM_002080,AC012183,CH471092,AK098313,AK223271,AK290847,AK307598,AL516773,BC000525,CR600716,CR612588,M22632,AK295993,AK302249 NP_002071,EAW82988,EAW82989,BAG53610,BAD96991,BAF83536,AAH00525,AAA35568,P00505,ABM82809,ABM85994,BAG58768,BAG63601 Hs.599470 FLJ40994|KAT4|KATIV|mitAAT FABP-1|FABPpm|aspartate aminotransferase, mitochondrial|fatty acid-binding protein|glutamate oxaloacetate transaminase 2|kynurenine aminotransferase IV|mAspAT|plasma membrane-associated fatty acid-binding protein|transaminase A protein-coding 1347290 GOT2L1 glutamic-oxaloacetic transaminase 2-like 1 pseudogene 645538 NG_008826,AL049710 GOT2L1 pseudo 1344778 GOT2L2 glutamic-oxaloacetic transaminase 2-like 2 pseudogene 391139 NG_008831,AL022310 GOT2L2 pseudo 1351834 GOT2L3 glutamic-oxaloacetic transaminase 2-like 3 2809,644138 AC010186,NG_008820 GOT2L3|GOT2L3P pseudo 3007026 GOT2P4 glutamic-oxaloacetic transaminase 2 pseudogene 4 121520 AC007552,NG_008829 GOT2L4 pseudo 3436159 GOT2P5 glutamic-oxaloacetic transaminase 2 pseudogene 5 100422625 AC013412,NG_021934 GOT2Y pseudo 1321026 GP1BA glycoprotein Ib (platelet), alpha polypeptide Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that are linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and platelet-type von Willebrand disease. [provided by RefSeq] 1580432,1580433,1580444,1580446,1580863 19913121,20520840,20532885,20628086,20667040,20673868,20696943,15039442,20153024,3353370,15297306,1939645,8608228,19420105,19388931,19336370,19250145,19132198,19110485,19082798,19067792,19017648,19008959,19002047,18848323,18815197,18792563,18791947,18725999,18674540,18612104,18550847,18528467,18502778,18489431,18450753,18417193,18403734,18383324,18339097,18283530,18260892,18225582,18057877,17962622,17922811,17873907,17786291,17763149,17728329,17634946,17630485,17619827,17598011,17597992,17494758,17414217,17408410,17379771,17346829,17303802,17261793,17196570,17143557,17105818,17100656,7721887,12855810,9410473,17096706,11776327,11776304,11751671,11700320,11698306,11686325,11583876,11514372,11437595,11418460,11307841,11260063,11222377,11167769,11159511,10899906,10801853,10627461,10499919,10429193,10391209,10089893,9651345,9639514,9454760,9269768,9088113,8631758,8486780,8400294,8384898,7873390,7819107,7690959,7690774,7632942,6336654,3759960,3497398,3303030,2946332,2933256,2845978,2628181,2557900,2436691,17083647,17029210,16986133,16806233,16774914,16723382,16373331,16263699,16260637,16179345,16118501,15978109,15933060,15892865,15841318,15564935,15546585,15512545,15501784,15489334,15477207,15386532,15375170,15355504,15346842,15319289,15317813,15311155,15269835,15249683,15166939,15054037,15045135,14968555,14961148,14711733,14675395,14639140,14592833,14521606,14521605,12952972,12881531,12871600,12871418,12855811,12791664,12724616,12719784,12665801,12637314,12590614,12522011,12499711,12477932,12463594,12393736,12362242,12183630,12091342,12087105,12082590,12073410,12070018,12038791,12036879,12036871,11994555,11981108,11943773,11937271,11859854,11858499,11858495,11812775,2070794,2052556,1730602,1730088,1702906,1586750,1577776,9092683,19778317,20498367,20216992,20725043,11024046,11739968,19181367,19448529,19515580,19558434,19562259,19570064,19578796,19591434,19619477,19656281,19702628,19718474,19726719,19729601,19740098,19751194,19820200,19840363,19948007,20063990,20076847,20149160,20157117,20161734,20227257,20452482,20472470,8467233,9425086,20367574,20139978,10887121 1580432,1580433,1580444,1580446 2811 AB576652,AB576653,AB576654,AB576651,NM_000173,NG_008767,AB038516,AB086948,AC109333,AF395009,AM709890,CH471108,D85894,L39103,M22403,S34436,S34439,BC027955,BE463855,J02940,AC233723,GU133003 BAJ15418,BAJ15420,BAJ15419,BAJ15417,NP_000164,BAB12038,BAC10305,AAK71325,CAM97225,EAW90393,BAA12911,AAA69491,AAA52596,AAB22152,AAB22153,AAH27955,AAA52595,P07359,Q06AK0,ABM81869,ABM85031,ACY72565 Hs.1472 BSS|CD42B|CD42b-alpha|GP1B|MGC34595 GP-Ib alpha|GPIb-alpha|GPIbA|antigen CD42b-alpha|glycoprotein Ibalpha|platelet glycoprotein Ib alpha chain|platelet membrane glycoprotein 1b-alpha subunit protein-coding 1345881 GP1BB glycoprotein Ib (platelet), beta polypeptide Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal within a separate gene (septin 5) located upstream of this gene. In the absence of polyadenylation from its own imperfect site, the septin 5 gene uses the consensus polyA signal of this gene. [provided by RefSeq] 1580863,1580446 20667040,9611266,11943773,3353370,12871509,1939645,8608228,18825380,18752571,18674540,18637125,17922811,17597992,15477207,15213102,12958615,12860973,12665801,12648286,12529755,12522011,12477932,12463594,12361948,12036872,11816714,11816713,11812775,10887115,10627461,10429193,9425086,9116284,9022087,8703016,8200976,8034572,8021244,7782333,7690959,3632685,3161731,2557900,2504723,9454760,18064328,19566547,19570064,4044584,8467233,12855811,10887121 1580446 2812 NM_000407,NG_007974,AB086231,AC000093,AF006988,J03259,HI552219 NP_000398,BAC00777,AAC39781,AAA52594,P13224,AAI60146,CBX54455 Hs.283743 CD42C|CD42c|GPIBB GP-Ib beta|GPIb-beta|GPIbB|antigen CD42b-beta|nuclear localization signal deleted in velocardiofacial syndrome|platelet glycoprotein Ib beta chain protein-coding 737446 GP2 glycoprotein 2 (zymogen granule membrane) 1580863 16000323,12477932,12324456,11853552,11039464,10760606,8666297,7519402,7503984,2076702,2011597,1651706,1531535,1284286,9605860,18029348,19627615,19907495,19919903,19959969,20335779,20383146 2813 NM_001007242,NM_001007241,NM_001502,NM_001007240,AB135541,AB135542,AC106796,CH471186,AB035541,AB035542,AK312277,BC032693,BG661274,BX646730,BX647831,BX648023,BX648201,BX649067,CR749600,D38225,U36221,AK293384 NP_001007243,NP_001007242,NP_001493,NP_001007241,EAW50310,EAW50311,EAW50312,EAW50313,BAA88166,BAA88167,BAG35207,AAH32693,CAH18396,BAA07400,AAB19240,P55259,Q68D34,Q8N1A3,BAH11498 Hs.53985 DKFZp779K0533|ZAP75 pancreatic secretory granule membrane major glycoprotein GP2|pancreatic zymogen granule membrane associated protein GP2|pancreatic zymogen granule membrane protein GP-2 protein-coding 736629 GP5 glycoprotein V (platelet) Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 193400) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder.[supplied by OMIM] 1580446,1580863 7690959,1939645,8608228,10429193,18612104,18450753,16263699,16179345,15691827,15477207,11686325,9425086,9326233,9269768,9129030,8519770,8407908,7900083,7782333,2372284,2350580,1730602,12855811,19874464,20379614,8467233,9616133,10887121,19913121,20628086 1580446 2814 NM_004488,AC125362,CH471052,Z23091,L11238,HI552221,GU138099 NP_004479,EAW78053,CAA80637,AAA03069,P40197,AAI52811,CBX54456,ACZ44929 Hs.73734 CD42d GPV|OTTHUMP00000197119|glycoprotein 5|platelet glycoprotein V protein-coding 1343427 GP6 glycoprotein VI (platelet) Glycoprotein VI (GP6) is a 58-kD platelet membrane glycoprotein that plays a crucial role in the collagen-induced activation and aggregation of platelets. Upon injury to the vessel wall and subsequent damage to the endothelial lining, exposure of the subendothelial matrix to blood flow results in deposition of platelets. Collagen fibers are the most thrombogenic macromolecular components of the extracellular matrix, with collagen types I, III, and VI being the major forms found in blood vessels. Platelet interaction with collagen occurs as a 2-step procedure: (1) the initial adhesion to collagen is followed by (2) an activation step leading to platelet secretion, recruitment of additional platelets, and aggregation. In physiologic conditions, the resulting platelet plug is the initial hemostatic event limiting blood loss. However, exposure of collagen after rupture of atherosclerotic plaques is a major stimulus of thrombus formation associated with myocardial infarction or stroke (Jandrot-Perrus et al., 2000 [PubMed 10961879]).[supplied by OMIM] 1580863 18983487,18955485,18848323,18795891,18569861,18528467,18431526,18419742,18382762,18064326,17958751,17848620,17764536,17663743,17110603,17105818,17096705,17085439,17068334,16956881,16876821,16861347,16847120,16493486,16405521,16219796,16113793,16102042,16080811,16014566,15946524,15939050,15923400,15886326,15841318,15701720,15701717,15507524,15489334,15466473,15456756,15339851,15308568,15306180,15280902,15277394,15265786,15231520,15203713,15203711,15142951,15057824,14656994,14563646,14504096,12871362,12871331,12850831,12847105,12649139,8617742,19030108,19209849,19228693,19465689,19530321,19578796,19583823,19622836,19630798,19700402,19740098,19757325,19786296,19815551,19850043,20007810,20162250,20227257,20237496,20379614,20400514,20367574,11027634,10822077,9153205,9028946,9280292,9295288,19420105,19336370,19278955,19235048,19190951,19164598,19132198,12594225,12560230,12477932,12377757,12362238,12359731,12356768,12049640,12010829,11990697,11964287,11943772,11825911,10961879,10825177,10506151,2808700,1715582,20414836,20526338,19913121,20628086,20691446,20723028,20351310,20002543,20040043,20122713,20522022,20585042 51206 NM_001083899,NM_016363,AB043943,AC011476,AF521646,CH471135,AB035073,AB043819,AB043820,AB043821,BC069485,BC104832,BC111963,BQ216894 NP_001077368,NP_057447,BAB12248,AAN86273,EAW72324,EAW72325,EAW72326,BAA89353,BAB12245,BAB12246,BAB12247,AAI04833,AAI11964,Q9HCN5,Q9HCN6 Hs.661752 GPIV|GPVI|MGC138168 glycoprotein 6|platelet collagen receptor|platelet glycoprotein VI protein-coding 1351167 GP9 glycoprotein IX (platelet) This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq] 1580446,1599275,1580863 17474147,9432024,2771955,1939645,8608228,10429193,19404517,18674540,18638089,18612104,18450753,18057877,17922811,17804902,17763149,15477207,15351858,14510954,12665801,12477932,12463594,12447957,12361948,12100158,12036872,11812775,11758225,11686325,11167791,10583255,9886312,9269768,9184424,9163595,8811076,8481514,8429020,8049428,7782333,3056407,2557900,2436691,2253772,19377075,19558434,19566547,19874464,8467233,10887121,12855811 1580446,1599275 2815 NM_000174,NG_008715,AC108673,CH471052,D88290,D89621,M80478,AA701315,BC030229,M25827,X52997,HI552223 NP_000165,EAW79285,BAA13580,BAA24428,AAB40042,AAH30229,AAA36809,CAA37186,O43705,P14770,ABM84263,ABM87654,CBX54457 Hs.1144 CD42a|GPIX GP-IX|glycoprotein 9|platelet glycoprotein IX protein-coding 1315484 GPA33 glycoprotein A33 (transmembrane) The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq] 1580863 9012807,19064610,18236042,17227111,15489334,12853980,12477932,12114523,9542130,9245713,17207965,19536175,20379614 10223 NM_005814,AL158837,CH471067,AK312833,BC069705,BC069723,BC069745,BC069761,BC069789,BC074830,BC074876,BC107164,BC107165,U79725 ADQ31934,NP_005805,CAH69957,EAW90783,BAG35687,AAH69705,AAH69723,AAH69745,AAH69761,AAH69789,AAH74830,AAH74876,AAI07165,AAI07166,AAC50957,Q5VZP6,Q99795 Hs.651244 A33|MGC129986|MGC129987 cell surface A33 antigen|transmembrane glycoprotein A33 protein-coding 1353728 GPAA1 glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq] 1580863 14660601,9468317,10793132,11483512,15713669,12052837,1846368,18028549,16642471,15489334,12802054,12582175,12477932,10393431,9828142,16169070 8733 NM_003801,AB002137,AB017267,AC109322,CH471162,CQ834368,AB002135,AB006969,AK312759,BC003171,BC004129,BC006383,CR610462,AL157437 NP_003792,BAA82590,BAA82587,EAW82161,EAW82162,EAW82163,EAW82164,EAW82165,CAH05399,BAA82588,BAA24035,BAG35625,AAH03171,AAH04129,AAH06383,O43292,CAB75660,ABM85965,ABW03763 Hs.627962 GAA1|hGAA1 GAA1 protein homolog|GPAA1P anchor attachment protein 1 homolog|GPI anchor attachment protein 1|GPI transamidase subunit|anchor attachment protein 1 (Gaa1p, yeast) homolog|glycophosphatidylinositol anchor attachment 1|glycosylphosphatidylinositol anchor attachment 1 protein|gpaa1p anchor attachment protein 1 homolog (yeast) protein-coding 1345601 GPAA1P1 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 1331365 10393431 1331365 22945 NG_001245,AB017268,AC013268 pseudo 1345985 GPAM glycerol-3-phosphate acyltransferase, mitochondrial Glycerol-3-phosphate acyltransferase (GPAT; EC 2.3.1.15), which catalyzes the initial and committing step in glycerolipid biosynthesis, is predicted to play a pivotal role in the regulation of cellular triacylglycerol and phospholipid levels. Two mammalian forms of GPAT have been identified on the basis of localization to either the endoplasmic reticulum or mitochondria.[supplied by OMIM] 1580863,2313652,2313659 8944226,2242030,11546763,18238778,19209188,18660489,16381901,16344560,15489336,15164054,12477932,11230166,11076863,10997877,9434961,8369314,2303421,20877624,16385451,20453000 2313652,2313659 57678 NM_020918,AL391986,CH471066,AB046780,AK025752,AK172782,AK172799,AL832464,AL833061,AL833093,BC030783,BQ694715,BX647451,DA313962 NP_065969,CAH73716,CAH73717,EAW49543,EAW49544,EAW49545,BAB13386,BAD18763,BAD18772,CAD89967,CAD89932,AAH30783,Q5VW52,Q6ZMF6,Q6ZMG4,Q86T70,Q8N1G6,Q9HCL2,CAL37491 Hs.42586 GPAT|GPAT1|KIAA1560|MGC26846|RP11-426E5.2 GPAT-1|OTTHUMP00000020487|glycerol 3-phosphate acyltransferase, mitochondrial|glycerol-3-phosphate acyltransferase 1, mitochondrial protein-coding 1601718 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial 16344560,12477932,17689486,18658143 150763 NM_207328,AC013272,CH471207,AK122580,AK122734,AK131194,AK131197,AK298131,AK302887,BC042847,BC064574,BC068596,CB961934,DB168291 NP_997211,EAW71391,EAW71392,EAW71393,BAC56921,BAC85508,BAD18390,BAD18392,BAG60411,BAG64065,AAH68596,Q6NUI2,Q86YV7,EAW71394 Hs.679801,Hs.348629 CT123 GPAT-2|OTTHUMP00000207415|OTTHUMP00000207416|cancer/testis antigen 123|glycerol-3-phosphate acyltransferase 2, mitochondrial|xGPAT1 protein-coding 1318991 GPATCH1 G patch domain containing 1 737633 20379614,14702039,12477932 737633 55094 AK315712,AL834465,NM_018025,AC008521,AF434677,AK001068,AK091835,AK096005,AK292503,BC006108 BAG38071,NP_060495,AAN63596,BAA91489,BAF85192,CAD39124,AAH06108,Q9BRR8 Hs.466436 ECGP|FLJ10206|FLJ34516|FLJ38686|GPATC1 G patch domain-containing protein 1|evolutionarily conserved G patch domain containing|evolutionarily conserved G-patch domain containing|evolutionarily conserved G-patch domain-containing protein protein-coding 1318884 GPATCH2 G patch domain containing 2 737633,1580863 19432882,17081983,15489334,15375528,14702039,12477932,20379614 737633 55105 NM_018040,AC096641,AL354659,CH471100,AK001114,AK024701,AK291238,AK310304,BC027719,BC042193,BC063474,CS401370 NP_060510,CAH70663,CAH70664,EAW93333,BAA91509,BAF83927,AAH27719,AAH42193,AAH63474,Q6PIX0,Q9NW75,CAL40333 Hs.420757 CT110|FLJ10252|FLJ21048|GPATC2|MGC74998|RP11-361K17.1 G patch domain-containing protein 2|cancer/testis antigen 110 protein-coding 1347677 GPATCH3 G patch domain containing 3 16710414,16344560,15489334,14702039,12477932 63906 AL034380,AL356390,CH471059,AK022517,AK057930,AK303183,AK308100,AL833886,AW137695,BC007767,CR601046,CR619450,CR936767,DA513389,NM_022078 Q5JYG5,Q96I76,ACE87616,ACE86929,NP_071361,CAI21617,CAI21618,CAI21630,CAI13564,EAX07783,BAB14074,BAG64277,CAD38742,AAH07767 Hs.10903 DKFZp686E0221|FLJ12455|GPATC3 G patch domain-containing protein 3 protein-coding 1606544 GPATCH4 G patch domain containing 4 15635413,14702039,12477932,16344560,16712791,19913121,20628086 54865 NM_182679,NM_015590,AL365181,CH471121,AK000256,AK055377,AK125763,AK293026,AK301232,BC032436,BC040147,BC056904,BF669837,BM997996,BQ214732,CR605231,BE326312,CB109133,DA087471 NP_872620,NP_056405,CAI13052,CAI13053,EAW52935,EAW52936,EAW52937,EAW52938,BAA91036,BAC86278,BAF85715,BAG62804,AAH32436,AAH40147,Q5T3I0,Q9UFQ7,AAI52775 Hs.193832 GPATC4 G patch domain-containing protein 4|OTTHUMP00000031986 protein-coding 1604390 GPATCH8 G patch domain containing 8 19913121,20628086,17081983,16713569,16565220,15498521,15302935,12477932,10477733,9628581,19729601,16712791,16344560 23131 NM_001002909,AC007722,AC103703,AF160252,CH471178,AB011125,AK025600,BC017808,BC024147,BC063601,BC136629,BC144323,CB161089,CD709791,CR605384,CA443965,DB021837,NR_036474 NP_001002909,AAF03681,EAW51593,BAA25479,AAH24147,AAI36630,Q9UKJ3 Hs.463129 GPATC8|KIAA0553 G patch domain-containing protein 8 protein-coding 1351664 GPB glycerol phosphatase, beta- 2833154 2816 736919 GPBAR1 G protein-coupled bile acid receptor 1 This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 634464,1580863 17326144,17214962,17178880,16400329,15489334,14702039,12524422,12477932,12419312,12044878,19582812,19716570,19723493,19944697,12036966,18577758,20811628,20623999 634464 151306 NM_001077194,NM_170699,AB083601,AC021016,CH471063,AB086170,AB089307,AK122658,AK122660,BC033625,BI834364,CR604439,NM_001077191,CR625402,FJ695195 NP_001070659,NP_001070662,NP_733800,BAB89314,EAW70598,BAC65343,BAC55235,BAG53647,BAG53648,AAH33625,Q8TDU6,ABM82266,ABM85448 Hs.160954 BG37|GPCR|GPCR19|GPR131|M-BAR|MGC40597|TGR5 G-protein coupled bile acid receptor 1|G-protein coupled bile acid receptor BG37|G-protein coupled receptor GPCR19|hBG37|hGPCR19|membrane bile acid receptor|membrane-type receptor for bile acids protein-coding 1607008 GPBP1 GC-rich promoter binding protein 1 17672918,16381901,16344560,15489336,14612417,12842993,12477932,11256614,11230166,11076863,8889548,15146197 65056 NM_022913,NM_001127235,NM_001127236,AC008435,AC034244,CH471123,AK024807,AK307505,AK311625,AL136844,AL161991,AY226828,BC000267,BC070132,BC113004,BM985337,CR592663,DB089516,DB271841,AI200911,BQ023353,CN358821,CR621588 EAW54962,NP_075064,NP_001120707,NP_001120708,EAW54961,EAW54963,EAW54964,EAW54965,EAW54966,BAB15013,CAB66778,CAB82324,AAO34124,AAH00267,AAH70132,AAI13005,Q86WP2,CAL37429,CAL38320 Hs.444279 DKFZp761C169|GPBP|MGC126339|VASCULIN GC-rich promoter-binding protein 1|OTTHUMP00000221902|OTTHUMP00000221903|vascular wall-linked protein|vasculin protein-coding 1605641 GPBP1L1 GC-rich promoter binding protein 1-like 1 16344560,16189514,12477932,9373149 60313 AL604028,CH471059,AF177334,AK024972,AK027212,AK225197,AL834194,BC015713,BC022218,BC022863,BC052257,BC068578,BU627076,NM_021639,CR610679,CR617948,CR625342,DA243695 NP_067652,CAI16664,EAX06956,EAX06957,EAX06958,EAX06959,EAX06960,AAG17978,BAB15047,CAD38884,AAH15713,AAH22218,AAH52257,Q9HC44,ABM83410,ABM86621 Hs.725955 RP11-767N6.1|SP192 GC-rich promoter-binding protein 1-like 1|OTTHUMP00000038560|vasculin-like protein 1 protein-coding 730930 GPC1 glypican 1 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq] 1580863 2148568,19023125,18634034,18536657,18064304,17016645,16723715,15547662,15489334,15297422,15249209,15084524,14702039,12972423,12477932,12084716,11968010,11454708,11375980,11336704,10527946,10364234,10196157,9802880,9373149,8125298,7774946,1417860,19166823,19479373,10892742 2817 NM_002081,AC110619,CH471063,CS072948,AK095397,AK096638,AK223516,BC008123,BC045712,BC051279,BG825129,CR598136,CR600471,CR601353,CR611835,X54232 NP_002072,AAY24160,EAW71180,EAW71181,EAW71182,EAW71183,EAW71184,CAI93681,BAG53043,BAG53345,BAD97236,AAH51279,CAA38139,P35052,Q05C97,Q53EX3,Q59GI7 Hs.328232,Hs.725965 FLJ38078|glypican OTTHUMP00000201548|glypican proteoglycan 1|glypican-1 protein-coding 731703 GPC2 glypican 2 728608,1580863 11256614,16381901,15489336,15489334,14702039,12690205,12477932,11230166,11076863,8294498 728608 221914 NM_152742,AC073842,CH236956,CH471091,AK096281,AL834418,AY093588,BC027972,CR615288 EAW76578,NP_689955,EAL23846,BAC04745,CAD39080,AAH27972,Q8N158,CAL37787,ABM84251,ABM87640 Hs.211701 DKFZp547M109|FLJ38962 cerebroglycan|glypican proteoglycan 2, cerebroglycan proteoglycan|glypican-2 protein-coding 737615 GPC3 glypican 3 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome. [provided by RefSeq] 704404,1580863 19838081,20546340,20701957,8589713,7657705,19513517,19496787,19329941,19231003,19215053,18976006,18813403,18813128,18785116,18511877,18469798,18462363,18413366,18277882,18264086,18029348,17949790,17949778,17603795,17581422,17549790,16682817,16675560,16299239,16227623,15772651,15475451,15083193,14661052,12824919,12816733,12478660,12477932,12085187,11893651,11320054,11193214,10814714,9950367,9931407,9853964,9787072,9630066,9373149,9371521,9339360,9133586,9021160,8125298,7909248,17087938,20725905,20653060,16344560,19141032,19243386,19405109,19574883,19793164,19816934,20845507 2719 HB867196,CS610131,BC035972,CR593041,CR594389,CR600770,CR611970,CR620091,CR624507,DQ349136,DQ349137,DQ349138,L47125,L47176,U50410,Z37987,NM_004484,NG_009286,AC002420,AF003529,AL008712,AL009174,AL034401,AL662851,CH471107,CS208011,L47124,Z97196,Z99570,AK222761,AK222766,AK300168,AK310196,AK310689,BX329946,DB107651,NM_001164617,NM_001164618,NM_001164619 CBF57584,CAO00500,AAH35972,ABC72125,ABC72126,ABC72127,AAA98132,AAB58806,AAA93471,CAA86069,P51654,Q2L880,Q2L882,Q53H15,Q8IYG2,ABM84584,ABM86748,NP_004475,AAB87062,CAA15490,CAI43110,CAA15663,CAI42761,EAX11769,EAX11770,EAX11771,CAJ44931,AAA98131,CAI42277,BAD96481,BAD96486,BAG61950,NP_001158089,NP_001158090,NP_001158091 Hs.644108 DGSX|GTR2-2|MXR7|OCI-5|SDYS|SGB|SGBS|SGBS1 glypican proteoglycan 3|glypican-3|heparan sulphate proteoglycan|intestinal protein OCI-5|secreted glypican-3 protein-coding 1347282 GPC4 glypican 4 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq] 1580863 20562859,9787072,9931407,15772651,15489334,12975309,12477932,12009023,11066092,10814714,10585884,7657705,11336704,7925270 2239 NM_001448,NG_012498,AF030195,AL034400,AL109623,CH471107,AF030186,AF064826,AF088063,AK304207,AK312605,AY052833,AY358507,BC017166 NP_001439,AAF22364,CAI42076,CAB86664,EAX11772,AAC69991,AAC31899,BAG65082,BAG35494,AAL11018,AAQ88871,AAH17166,O75487,Q86SV6,ABM82735,ABM85918 Hs.58367 K-glypican dJ900E8.1 (glypican 4)|glypican proteoglycan 4|glypican-4 protein-coding 1318835 GPC5 glypican 5 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq] 1580863 19590514,19834535,19865102,20189936,20304703,20360844,20379614,20692050,7657705,19556317,19422935,19174780,19043545,19022413,19010793,18195134,17846126,15489334,15057823,12721791,12477932,11292377,9331333,9070915,11566272,20688270,20205591,20886065,20944657,20966902 2262 NM_004466,NG_009370,AL138714,AL157363,AL157768,AL157815,AL157821,AL159152,AL162456,AL163537,AL354871,AL356118,AL356737,AL596221,CH471085,AF001462,AK312815,BC030584,BC039730,U66033 NP_004457,CAH70260,CAH71865,CAC34558,CAI17090,CAI13232,EAX08927,AAC12261,BAG35673,AAH39730,AAC51118,P78333 Hs.655675 bA93M14.1|glypican proteoglycan 5|glypican-5 protein-coding 1352914 GPC6 glypican 6 The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. [provided by RefSeq] 1580863 20692050,10329016,19481194,17903302,15489334,15057823,12975309,12477932,10480909,7657705,20634892,18839057,19726429,19834535,20379614 10082 NM_005708,NG_011880,AL137144,AL138700,AL139798,AL160036,AL160159,AL161426,AL162455,AL354762,AL354811,AL356598,AL357275,AL450425,AL606810,CH471085,AF105267,AF111178,AK074741,AK130013,AK290144,AK304338,AY358462,BC106947,BQ009005,BQ182216,BX640888 NP_005699,CAH71332,CAC39445,CAI15668,CAH71606,CAC40695,CAC21820,EAX08931,EAX08932,EAX08934,AAD55749,AAD31392,BAF82833,BAG65183,AAQ88827,AAI06948,Q9Y625,EAX08933 Hs.444329,Hs.615434 MGC126288|OMIMD1 glypican proteoglycan 6|glypican-6 protein-coding 733156 GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) 1580863 8944226,16460752,7772607,19425502,16849634,16169070,15489334,14674682,12477932,11822825,10190973,9851831,9247308,2398890,1052094,19296078,20404019 2819 NM_005276,AC025154,CH471111,M36917,AK130162,AK295911,AK312516,BC017429,BC032234,CR593251,L34041 NP_005267,EAW58128,EAW58129,AAA35925,BAG58699,BAG35417,AAH32234,AAA92863,P21695,ABM92243,ABM84719 Hs.524418 FLJ26652 GPD-C|GPDH-C|glycerol 3-phosphate dehydrogenase|glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic|glycerol-3-phosphate dehydrogenase, soluble protein-coding 1345791 GPD1L glycerol-3-phosphate dehydrogenase 1-like 737633 18029348,16344560,19666841,19745168,20379614,18762705,17967977,17967976,12477932,7788527 737633 23171 NG_023375,AI080105,BX283865,DA318838,NM_015141,AC094019,CH471055,AK074221,AK125404,AK292808,BC006168,BC028726,D42047 NP_055956,EAW64421,EAW64422,BAG54194,BAF85497,AAH06168,AAH28726,BAA07648,Q8N335 Hs.82432 GPD1-L|KIAA0089 glycerol-3-phosphate dehydrogenase 1-like protein protein-coding 737186 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) Mitochondrial glycerophosphate dehydrogenase (EC 1.1.99.5), or GPD2, is located on the outer surface of the inner mitochondrial membrane and catalyzes the unidirectional conversion of glycerol-3-phosphate (G-3-P) to dihydroxyacetone phosphate (DHAP) with concomitant reduction of the enzyme-bound FAD. Together with a cytosolic NAD-linked GPD (GPD1; MIM 138420), GPD2 forms the glycerol phosphate shuttle, which uses the interconversion of G-3-P and DHAP to transfer reducing equivalents into mitochondria, resulting in the reoxidation of NADH formed during glycolysis.[supplied by OMIM] 704404,1580863 20339536,9070847,19011903,17886033,16344560,16341674,15967408,15456763,14702039,12477932,11243726,9110174,8682323,8619474,8549872,7821823,6790537,6406231,3943520,2065091,167714,20877624 2820 NM_001083112,NM_000408,AC011308,AC092686,CH471058,U40367,AB209399,AF311325,AK022596,AK027840,AK093198,AK123563,AK290057,AK291065,AK292817,AK299645,AL699359,AL703918,BC019874,BM750374,DA220999,U12424,U36310,U79250,NG_016606 NP_001076581,NP_000399,AAY24329,AAY24073,EAX11452,EAX11453,AAC50556,BAD92636,AAG33851,BAG52671,BAF82746,BAF83754,BAF85506,BAH13087,AAH19874,AAA65701,AAB60403,AAB50200,P43304,Q53RD0,Q53T76,Q8WUQ0 Hs.512382 GDH2|GPDM|mGPDH GPD-M|GPDH-M|OTTHUMP00000204458|glycerol-3-phosphate dehydrogenase 2|glycerol-3-phosphate dehydrogenase, mitochondrial|mitochondrial glycerophosphate dehydrogenase|mtGPD 2314777,2314985 GLUCO106_H,INSUL32_H protein-coding 1345276 GPDS1 glaucoma-related pigment dispersion syndrome 1 9076212 7986 735664 GPER G protein-coupled estrogen receptor 1 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum. The protein binds estrogen, resulting in intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq] 1580863,4892084,4892064 8920907,19432902,19179659,19153601,18794456,18566127,18467441,18467434,18289622,17878253,17655271,17638621,16520733,16344560,16280047,16239258,16210518,16125968,15994455,15771623,15761144,15705806,15539556,15511221,15489334,15245432,15090535,14675202,14632195,12744705,12690205,12477932,12446589,12193550,12027886,11897506,11773440,11043579,9479505,9398636,9367686,9141481,9070864,8889548,20211987,20596598,20197310,19902352,19911269,18240029,19342448,19549922,19744559,19749156,19767412,20086172,20508064,2834384,20203690,20819778 4892084,4892064 2852 NM_001505,NM_001098201,AC091729,AF007171,AF027956,CH236953,CH471144,U77827,AB451427,AF015257,AK289588,AY265807,AY265808,AY265809,BC011634,BC067849,BC082766,BM672716,CR541655,CR541741,DA014990,DC381205,U58828,U63917,X98510,Y08162,NM_001039966 Q7Z7A8,Q7Z7A9,Q99527,ABM82828,ABM86014,NP_001035055,NP_001496,NP_001091671,AAC52027,EAL23938,EAW87194,EAW87195,AAC51173,BAG70241,AAC51904,BAF82277,AAP40320,AAP40321,AAP40322,AAH11634,AAH82766,CAG46456,CAG46541,AAB02736,AAB88017,CAA67133,CAA69354,Q63ZY2,Q6FHU6,Q7Z7A7 Hs.20961 CEPR|CMKRL2|DRY12|FEG-1|GPCR-Br|GPR30|LERGU|LERGU2|LyGPR|MGC99678 G protein-coupled receptor 30|G-protein coupled estrogen receptor 1|G-protein coupled receptor 30|IL8-related receptor DRY12|OTTHUMP00000200079|chemoattractant receptor-like 2|chemokine receptor-like 2|constitutively expressed peptide-like receptor|flow-induced endothelial G-protein coupled receptor 1|g protein-coupled receptor 30|heptahelix receptor|leucine rich protein in GPR30 3'UTR|lymphocyte-derived G-protein coupled receptor|mER|membrane estrogen receptor protein-coding 1346484 GPHA2 glycoprotein hormone alpha 2 GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM] 1580863 12089349,18433898,17363077,16376481,15890769,15489334,12477932,12045258,11809971 170589 NM_130769,AP001187,CH471076,CS172789,AF260739,BC093960,BC093962,BC101523,CS469763 NP_570125,EAW74326,EAW74327,CAJ32901,AAK51638,AAH93960,AAH93962,AAI01524,Q96T91,CAM33585 Hs.436119 A2|GPA2|MGC126572|ZSIG51 cysteine knot protein|glycoprotein alpha 2|glycoprotein hormone alpha-2|putative secreted protein Zsig51|thyrostimulin subunit alpha protein-coding 1342611 GPHB5 glycoprotein hormone beta 5 GPHB5 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM] 18433898,16210345,15890769,15489334,12508121,12477932,12089349,12045258,19095738 122876 NM_145171,AL049871,CH471061,AF403430,AF467770,BC069113,BC133702 NP_660154,EAW80825,AAM53261,AAO33390,AAH69113,AAI33703,Q86YW7 Hs.375028 B5|GPB5|ZLUT1 glycoprotein beta 5|glycoprotein hormone beta subunit|glycoprotein hormone beta-5|thyrostimulin subunit beta protein-coding 69477 GPHN gephyrin This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq] 69377,1300048,1580863,1300220,1625104,1558665 19913121,20628086,18403029,18334916,17293395,16964243,15489334,14751928,14622920,12967995,12754701,12684523,12535948,12477932,12097491,11727829,11554796,11418245,11095995,10947798,10900017,10839351,10718198,10607391,10325225,10037506,9473484,7546736,1657993,1319186,14760703,17347650,19615732,19874574,20379614,20468064,18315564,20206270,20622020,21071388,9990024 69377,1300220,1625104,1558665 10243 NM_020806,NM_001024218,NG_008875,AL049835,AL117667,AL133241,AL135978,AL139295,AL159179,AL355093,CH471061,AB037806,AF272663,AJ272033,AJ272343,AK025169,AK315569,BC030016,BQ575870,CR626254,AK294532,AK295577,AK297447 NP_065857,NP_001019389,EAW80923,EAW80924,EAW80925,EAW80926,BAA92623,AAF81785,CAC81240,CAC10537,BAG37944,AAH30016,Q96KU4,Q9NQX3,ABM83389,ABM86601,BAH11801,BAH12110,BAH12583 Hs.208765 GEPH|GPH|GPHRYN|KIAA1385 gephyrin protein-coding 1344852 GPI glucose phosphate isomerase This gene belongs to the GPI family whose members encode multifunctional phosphoglucose isomerase proteins involved in energy pathways. The protein encoded by this gene is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. The protein functions in different capacities inside and outside the cell. In the cytoplasm, the gene product is involved in glycolysis and gluconeogenesis, while outside the cell it functions as a neurotrophic factor for spinal and sensory neurons. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. [provided by RefSeq] 1625539,1600633,1600631,1600632,1580863 8575767,7435496,3020690,19064002,18485900,18311788,17925402,17690101,17071500,18029348,20845477,17041899,16949042,16563432,15850830,15637053,15570012,15489334,15369782,15290745,15059907,15034067,14715248,14566819,12783864,12737943,12573240,12527360,12517804,12477932,12054796,11896393,11896391,11688991,11431735,11418246,11264592,11004567,10916680,10727272,10216265,9856489,9616041,9446754,8822954,8822952,8499925,7989588,7545951,3352745,2544027,2387591,2547084,17875708,18992137,19531650,19787266,19801670,19819066,20237496,8889548 1625539,1600633,1600631,1600632 2821 AC010504,AC092073,AY324386,M55538,M61214,X83456,X83457,X83458,X83459,X83460,X83461,X83462,X83463,X83464,AB209575,AK025421,AK129884,AK130102,AK293446,AK294396,AK301103,BC004982,BC006342,CR599066,CR600477,CR600588,CR603258,CR606478,CR614183,CR620238,CR620767,NM_000175,CR624212,K03515,X16539,BM664761,BX641158,DC299841,DC342043,NG_012838,NM_001184722 NP_000166,AAP72966,AAA52593,BAD92812,BAG56947,BAG57650,BAG62702,AAH04982,AAA36368,P06744,Q59F85,ABM83850,ABM87172,NP_001171651 Hs.466471 AMF|DKFZp686C13233|GNPI|NLK|PGI|PHI|SA-36|SA36 autocrine motility factor|glucose phosphate isomerase|glucose-6-phosphate isomerase|hexose monophosphate isomerase|hexosephosphate isomerase|neuroleukin|oxoisomerase|phosphoglucose isomerase|phosphohexomutase|phosphohexose isomerase|phosphosaccharomutase|sperm antigen 36|sperm antigen-36 protein-coding 1606107 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 Dietary fats are packaged by intestine into triglyceride-rich lipoproteins called chylomicrons. The triglycerides in chylomicrons are hydrolyzed by lipoprotein lipase (LPL: MIM 609708) along the luminal surface of capillaries, mainly in heart, skeletal muscle, and adipose tissue. GPIHBP1 is a capillary endothelial cell protein that provides a platform for LPL-mediated processing of chylomicrons (Beigneux et al., 2007 [PubMed 17403372]).[supplied by OMIM] 19304573,18713736,17997385,17883852,17620854,17403372,12477932,20026666,20966398,17207965,19542565,20237496 338328 NM_178172,AC138696,CH471162,AF088057,AY245915,BC035810,BC063857 NP_835466,AAO86519,AAH35810,AAH63857,Q8IV16,EAW82276,ADQ31965 Hs.426410 GPI-HBP1 GPI anchored high density lipoprotein binding protein 1|GPI-anchored HDL-binding protein 1|glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1|high density lipoprotein-binding protein 1 protein-coding 1343451 GPKOW G patch domain and KOW motifs 737633 18029348,17081983,16271871,16189514,15489334,12477932,8938429,17207965 737633 27238 NG_021310,AF196779,CH471224,AB209806,NM_015698,BC000397,BC003148,CR591633,CR592275,CR594773,CR600514,CR602335,CR606999,CR607315,CR613138,CR614725,CR615301,CR625229,U66359,CR619271,CR619819,CR621425,CR625222 NP_056513,EAW50694,BAD93043,AAH00397,AAH03148,AAB18640,Q92917,ADQ32429 Hs.503666 GPATC5|GPATCH5|Spp2|T54 G patch domain and KOW motifs-containing protein|protein MOS2 homolog protein-coding 1606585 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq] 18940312,18298948,17949898,17467053,16831865,16335952,15814706,15500962,15500911,15489334,14767861,14574404,12536633,12477932,12367767,12090469,11989719,11939719,11939716,11938765,11254757,11072085,10752311,7512501,2017684,1606959,20858461,19135435,20648472 2822 NM_001503,NM_177483,AJ400872,AJ400873,AJ400874,AJ400875,AJ400876,AL031230,AL359713,CH471087,AJ308108,AK308639,AK310692,AY007546,BC007614,BC020748,BC093645,BC112001,CR593011,L11701,L11702 NP_001494,NP_803436,CAC14844,CAD92520,CAI22602,CAI17103,EAW55448,EAW55449,EAW55450,EAW55451,CAC87068,AAG16627,AAH07614,AAH20748,AAH93645,AAI12002,AAA36444,AAA36445,P80108,AAI56272,AAI57057 Hs.533291 GPIPLD|GPIPLDM|MGC22590|PIGPLD|PIGPLD1 GPI-PLD|GPI-specific phospholipase D|PI-G PLD|glycoprotein phospholipase D|glycosyl-phosphatidylinositol-specific phospholipase D|glycosylphosphatIdylinositol-specific phospholipase D|glycosylphosphatidylinositol specific phospholipase D1, isoform 2|phosphatidylinositol-glycan-specific phospholipase D|phospholipase D, phosphatidylinositol-glycan-specific protein-coding 736321 GPM6A glycoprotein M6A 1580863 12493773,19298174,18574501,18163405,15822905,15489334,12477932,12359212,8893821,8807448,8661015,20379614,20400778,21041608 2823 AC093819,AC097537,AC110794,CH471056,AI609188,AK226176,AK299788,BC010461,BC022508,BC022528,BC032904,BC037853,BC044612,BC053954,BI544825,BI546539,BI596896,BI670059,D49958,H16369,U45956,NM_201592,NM_005277,NM_201591 NP_963885,EAX04724,EAX04725,BAH13128,AAH22508,AAH22528,AAH37853,AAH44612,BAA08712,AAB16889,P51674,Q49AH3,Q86YB0,ABM83298,ABM86507,NP_963886,NP_005268 Hs.75819 GPM6|M6A OTTHUMP00000218926|OTTHUMP00000218929|OTTHUMP00000218932|neuronal membrane glycoprotein M6-a protein-coding 1349867 GPM6B glycoprotein M6B This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions, such as membrane trafficking and cell-to-cell communication. [provided by RefSeq] 1580863 8661015,18581270,18029348,17918249,16416265,16381901,15489336,15489334,15214007,14702039,12477932,11749036,11230166,11076863,10397631,9674909,8398137,20029029 2824 NM_001001995,NM_001001994,NM_005278,NM_001001996,NG_011988,AC003035,AC003037,AF037347,AF047197,CH471074,AA991690,AB209525,AK095657,AK127103,AK294314,AK299675,AL119977,BC008151,BC047295,BF525674,BG532134,BI548345,BI599457,BI669888,CR592796,CR594784,CR601360,CR610603,U45955 NP_001001995,NP_001001994,NP_005269,NP_001001996,AAC19165,AAC19166,AAD13718,EAW98842,EAW98843,EAW98844,EAW98845,EAW98846,EAW98847,EAW98848,EAW98849,EAW98850,BAD92762,BAC04600,BAH11734,BAH13099,AAH08151,AAH47295,AAB16888,Q13491,Q59FD5,Q86X43,Q8N956,CAL37405,CAL37489,CAL37578,CAL37632,CAL37742,CAL37821,CAL37835,CAL37846,CAL37852,CAL37926,CAL38093,CAL38447,CAL38453,CAL38616,CAL38645,CAL38658,CAL38697,ABM82467,ABM85655,ACE87484,ACE86797,CAL37745 Hs.495710 M6B|MGC17150|MGC54284 OTTHUMP00000215023|OTTHUMP00000215024|neuronal membrane glycoprotein M6-b|protolipid M6B protein-coding 1319547 GPN1 GPN-loop GTPase 1 This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 11058119,17643375,16189514,15489334,12588985,12477932,11124703,19615732 11321 NM_001145047,NM_001145048,NM_001145049,NM_007266,NR_026735,AC074091,CH471053,AB044661,AJ010842,AK298827,AK298866,AK302131,AK310340,AK311423,AK312992,AK316404,BC007451,CR602623,CR608298,CR612976,CR617699 NP_001138519,NP_001138520,NP_001138521,NP_009197,AAX93201,EAX00557,EAX00558,BAB17612,CAA09376,BAG60957,BAG60986,BAG63506,BAG35829,BAH14775,AAH07451,Q53RZ9,Q9HCN4,ABM84206,ABM87610 Hs.18259 ATPBD1A|FLJ51176|MBDIN|NTPBP|XAB1 ATP(GTP)-binding protein|GPN-loop GTPase 1|MBD2-interacting protein|OTTHUMP00000219545|OTTHUMP00000219546|XPA binding protein 1, GTPase|XPA-binding protein 1|xpa binding protein 1 protein-coding 1603309 GPN2 GPN-loop GTPase 2 16710414,15489334,14702039,12975309,12477932,17207965 54707 NM_018066,AL034380,CH471059,AK001211,AK022535,AY358864,AY364261,BC007815,BC008634,BC020272,BI766621,CR611767,CR617892 NP_060536,CAB92117,CAI21619,CAI21620,EAX07784,BAA91556,BAB14084,AAQ89223,AAQ76820,AAH07815,AAH08634,Q9H9Y4,ADQ33167 Hs.14333 ATPBD1B|FLJ10349 ATP binding domain 1 family, member B|ATP-binding domain 1 family member B|GPN-loop GTPase 2 protein-coding 1606002 GPN3 GPN-loop GTPase 3 11256614,16381901,15489336,12975309,12477932,11230166,11076863,9373149,8125298,17643375,19615732 51184 DB455987,AM992619,AM992620,NM_001164373,CR613385,NM_001164372,AC002350,AC144548,CH471054,AF117229,AK223209,AK314946,AY359078,AY364262,BC008416,BC031024,BI546381,BX537973,NM_016301 Q9UHW5,CAL37887,CAL38696,CAQ52399,CAQ52400,NP_001157845,NP_057385,NP_001157844,EAW97914,AAF17210,BAD96929,BAG37451,AAQ89437,AAQ76821,AAH08416,AAH31024,CAD97937 Hs.634680 ATPBD1C|MGC14560|MGC32810 ATP binding domain 1 family, member C|ATP-binding domain 1 family member C|GPN-loop GTPase 3|protein x 0004 protein-coding 736300 GPNMB glycoprotein (transmembrane) nmb The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20711474,12638126,12609765,12477932,12176896,9847074,20215530,7814155,19453261,19350579,18983539,17951401,17845721,17081065,16609006,16341674,16247014,15763343,15684612,15489334,15231748,14696968,12975309,12853948,12690205,12643545,20375921,19320736,19834535,20056711,20379614 10457 NM_002510,AC005082,CH236948,CH471073,AF322909,AI952217,AJ505015,AK292078,AK296779,NM_001005340,AK297051,AK297055,AK297803,AK303071,AK304671,AK312279,AY359124,BC011595,BC025297,BC032783,BM750843,BT007074,BU537639,CD105306,AK297031,CR620418,CR625459,CR626032,X76534 NP_001005340,NP_002501,AAP22336,AAP22337,EAL24259,EAW93781,EAW93782,EAW93783,EAW93784,AAG42839,CAD43718,BAF84767,BAG59357,BAG59559,BAG59577,BAG59580,BAG60141,BAG64187,BAG65446,BAG35208,AAQ89481,AAH11595,AAH32783,AAP35737,CAA54044,Q14956,Q8IXJ5,Q96F58,ABM83010,ABM86203 Hs.190495 HGFIN|NMB glycoprotein NMB|glycoprotein nmb-like protein|osteoactivin|transmembrane glycoprotein HGFIN|transmembrane glycoprotein NMB protein-coding 732710 GPR1 G protein-coupled receptor 1 1580863 7851889,18029348,16938805,16344560,16303743,15919664,15815621,15489334,12837283,12477932,10233994,10916084,17558413,19343178,20334567 2825 NM_005279,NM_001098199,AC007383,CH471063,U13666,AK075130,AK290976,AK312917,AL550780,BC058005,BC067833,BX094581,BX389743,CA446989,CB269800,CR601592,CR612018,DA692381,DA988428,EF577403 NP_005270,NP_001091669,AAY15063,EAW70383,AAA64592,BAG52070,BAF83665,AAH67833,ABQ52423,P46091 Hs.184907 OTTHUMP00000206357|OTTHUMP00000206358|OTTHUMP00000206359|OTTHUMP00000206360|OTTHUMP00000206361|OTTHUMP00000206362|OTTHUMP00000206363|probable G-protein coupled receptor 1 protein-coding 1344763 GPR101 G protein-coupled receptor 101 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 18029348,15489334,12477932,12044878,11574155 83550 NM_054021,AB065937,AF411115,AL390879,CH471150,BC069439,AB083588,NG_016367 NP_473362,BAC06152,BAB89301,AAL26486,CAI40047,EAW88450,AAH69439,Q96P66 Hs.350569 GPCR6 probable G-protein coupled receptor 101 protein-coding 1314180 GPR107 G protein-coupled receptor 107 17454009,15164053,14702039,12477932,10997877,9373149,8125298 57720 NM_020960,NM_001136557,NM_001136558,AL136141,AL360004,AL392105,CH471090,AB046844,AF308603,AF376725,AJ420422,AJ420428,AK000825,AK021506,AK024651,AK025836,AK026244,AK074380,AK131317,AK293092,AL834359,BC007544,BC030147,BC039728,BC110518,BC143655,BM920552,BU618007,CR593570,AK225456 NP_066011,NP_001130029,NP_001130030,CAI12152,CAI12153,CAI16952,CAI16953,CAH71210,CAH71211,EAW87920,EAW87921,EAW87922,EAW87923,EAW87924,EAW87925,BAB13450,AAQ14541,AAK57695,BAB15408,BAF85781,CAI46205,AAI10519,AAI43656,Q5VW38,Q71SA9 Hs.512461 DKFZp667C222|FLJ16312|FLJ20998|FLJ22591|GCDRP|KIAA1624|LUSTR1|MGC126118|MGC15440|RP11-88G17|bA138E2.2 OTTHUMP00000022357|lung seven transmembrane receptor 1|protein GPR107 protein-coding 1344702 GPR108 G protein-coupled receptor 108 1580863 17454009,12477932,16169070,19423540,20406964,20438785 56927 NM_001080452,NM_020171,AC008760,CH471139,AI740753,AK291968,AL365404,AL522595,BC007862,BC146909,BC150657,BX400757,CA425869,CB961886,CR593607,CR602050,CR609369,CR613643,CR622510,EB387948 NP_001073921,NP_064556,EAW69066,EAW69067,EAW69068,BAF84657,CAB96950,AAH07862,AAI46910,AAI50658,Q96I30,Q9NPR9 Hs.167641 LUSTR2|MGC14393 lung seven transmembrane receptor 2|protein GPR108 protein-coding 1321097 GPR110 G protein-coupled receptor 110 1302390 15203201,14702039,14623098,14574404,12679517,12477932,12435584,12044878,9373149,8889548,8125298,20149256 1302390 266977 CR627234,NM_153840,NM_025048,AB065679,AB083618,AL355518,CH471081,AB045123,AK026337,AK055208,AK095348,AK225460,AL698860,AY140952,AY255595,BC029358,BC104214,BC104215,BC113634,BC113636,BU675866,CD685935,BC144253 Q3SXM8,Q5T601,Q8TDT4,NP_722582,NP_079324,BAC45260,BAB89331,CAI13873,CAI13874,CAI13875,EAX04311,EAX04312,EAX04313,BAD83599,BAB15452,BAB70874,AAN46666,AAO85107,AAH29358,AAI04215,AAI13635,AAI13637,AAI60016 Hs.256897 FLJ22684|FLJ30646|KPG_012|MGC125952|PGR19|hGPCR36 G protein-coupled receptor PGR19|G-protein coupled receptor 110|G-protein coupled receptor KPG_012|G-protein coupled receptor PGR19|probable G-protein coupled receptor 110|seven transmembrane helix receptor protein-coding 1343922 GPR111 G protein-coupled receptor 111 1580863 15203201,14574404,12679517,12565841,12435584,12044878 222611 NM_153839,AB065684,AB083617,AL356421,CH471081,AK126683,AY140953,AY255612,DQ315369 NP_722581,BAC05907,BAB89330,CAI15578,EAX04320,AAN46667,AAO85124,ABC41928,Q8IZF7,AAI56187,AAI57026 Hs.724860 PGR20|hGPCR35 G protein-coupled receptor PGR20|OTTHUMP00000217380|OTTHUMP00000217381|probable G-protein coupled receptor 111 protein-coding 1346347 GPR112 G protein-coupled receptor 112 1580863 15203201,12679517,12435584,18953328 139378 NM_153834,AL078638,AL136167,AL161778,CH471150,AY140954,AY255581,AY882585,CR936801,NG_021219 NP_722576,CAM21579,CAM21580,CAI40998,EAW88471,EAW88472,AAN46668,AAO85093,AAW78659,Q8IZF6,AAI56127,CAM21249,CAM28220,CAM28221 Hs.381354 DKFZp781E1948|PGR17|RP1-299I16 OTTHUMP00000183578|OTTHUMP00000183579|probable G-protein coupled receptor 112 protein-coding 1314157 GPR113 G protein-coupled receptor 113 1580863 15203201,14702039,12975309,12679517,12477932,12435584,12044878 165082 T92048,NM_001145169,NM_001145168,AB065959,AB083619,AC010896,CH471053,AA459569,AK122995,AK293887,AY140955,AY255611,AY358172,BC043211,NM_153835 Q8IZF5,AAI48417,AAI52989,NP_722577,NP_001138641,NP_001138640,BAC45265,BAB89332,AAY14645,EAX00694,EAX00695,EAX00696,EAX00697,EAX00698,EAX00699,BAG53841,BAG57276,AAN46669,AAO85123,AAQ88539 Hs.631878 FLJ16767|PGR23|hGPCR37 G protein-coupled receptor PGR23|G-protein coupled receptor 113|G-protein coupled receptor PGR23|OTTHUMP00000196644|probable G-protein coupled receptor 113|seven transmembrane helix receptor protein-coding 1313657 GPR114 G protein-coupled receptor 114 1580863 20600896,15203201,15489334,14702039,12975309,12679517,12477932,12435584 221188 NM_153837,AC004382,AC027349,CH471092,AK128298,AK160368,AK172765,AK292783,AK301357,AK303661,AY140956,AY255609,AY358447,BC032401 NP_722579,EAW82936,EAW82937,EAW82938,BAG54657,BAD18711,BAD18748,BAF85472,BAG62902,BAG64660,AAN46670,AAO85121,AAQ88812,AAH32401,Q8IZF4,ABM85701 Hs.187884 PGR27 G protein-coupled receptor PGR27|G-protein coupled receptor 114|G-protein coupled receptor PGR27|OTTHUMP00000164666|probable G-protein coupled receptor 114 protein-coding 1315496 GPR115 G protein-coupled receptor 115 1580863 16344560,14702039,14574404,12679517,12435584,8889548,15203201 221393 NM_153838,AB065474,AL356421,CH471081,AK095395,AY140957,AY255556,BU683873,DA445316,DB313938,DQ315370 NP_722580,BAC45257,CAI15579,CAI15581,EAX04321,EAX04322,BAG53042,AAN46671,AAO85068,ABC41929,Q8IZF3,AAI56188,AAI56925 Hs.150131 FLJ38076|PGR18 G-protein coupled receptor 115|G-protein coupled receptor PGR18|OTTHUMP00000016563|OTTHUMP00000016564|probable G-protein coupled receptor 115|seven transmembrane helix receptor protein-coding 1347693 GPR116 G protein-coupled receptor 116 1580863 10048485,9872452,11076863,15203201,18519826,18314133,18308334,16381901,16344560,16335952,16303743,15489336,15489334,14702039,12679517,12477932,12435584,11230166,19913121,20628086,20379614 221395 CH471081,AY498875,NM_015234,NM_001098518,AL096772,AB018301,AB031421,AI796309,AK075121,AK092043,AK289503,AK296948,AK300380,AL050295,AL832125,AY140958,AY255552,BC036002,BC050087,BC066121,CR626483,DA588699,DB230925 NP_056049,NP_001091988,CAB61578,EAX04307,EAX04308,EAX04309,BAA34478,BAD83582,BAF82192,BAG59494,BAG62115,CAB43394,AAN46672,AAO85064,AAH50087,AAH66121,Q4G0K7,Q8IZF2,CAL38391,ACE87667,ACE86978,AAS21061 Hs.362806 DKFZp564O1923|FLJ90640|KIAA0758|KPG_001 Ig-Hepta homolog|OTTHUMP00000016557|probable G-protein coupled receptor 116 protein-coding 736973 GPR119 G protein-coupled receptor 119 GPR119 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390,1580863 16517404,15772651,15489334,14623098,12477932,12044878,17900700,18037923,18202141,18698756,19562648,19660440,19780700,19817784,19901198,19920139 1302390 139760 NM_178471,AB065936,AB083584,AL035423,AY288416,BC095502,BC101166,BC101167,BC101168,BC126179,BC126181,NG_016404,CS538152 NP_848566,BAC06151,BAB89297,CAI42442,AAP72125,AAH95502,AAI01167,AAI01168,AAI01169,AAI26180,AAI26182,Q8TDV5,ADR82941,CAM84963 Hs.496762 GPCR2|MGC119957|hGPCR2 G-protein coupled receptor 119|G-protein coupled receptor 2|glucose-dependent insulinotropic receptor protein-coding 68465 GPR12 G protein-coupled receptor 12 632854,632853,1580863 8530049,15489334,15057823,14702039,12649592,12477932,8889548 632854,632853 2835 AL159978,CH471075,U18548,AK055229,AK290220,AK294378,AK307756,AK311107,AK312602,AW015633,BC067448,BC067449,BC067450,BC067451,BC067452,BC112144,BC112146,BM727022,NM_005288 NP_005279,CAI14692,EAX08390,AAA91630,BAF82909,BAG57636,BAG35492,AAH67448,AAH67449,AAH67450,AAH67451,AAH67452,AAI12145,AAI12147,P47775,Q6NWS6,Q6NWS7,Q6NWS8 Hs.123034,Hs.727289 FLJ18149|FLJ97704|GPCR12|GPCR21|MGC138349|MGC138351 G-protein coupled receptor 12|OTTHUMP00000018159|g-protein coupled receptor 12 protein-coding 1317919 GPR120 G protein-coupled receptor 120 GPR120 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390 20471368,16344560,20677014,19723586,16341674,15619630,15164054,14623098,12679517,12477932,19460454 1302390 338557 AI469384,AI732606,BX647721,DA986310,NM_001195755,AK301525,NM_181745,AL356214,CH471066,AB115768,AY255573,AY288417,BC101175,BM757151,CR620860 NP_001182684,BAG63028,NP_859529,CAH72326,CAH72327,EAW50069,EAW50070,BAD83368,AAO85085,AAP72126,AAI01176,Q5NUL3 Hs.661022 DKFZp686F0824|GPR129|GT01|MGC119984|PGR4 G protein-coupled receptor 129|G protein-coupled receptor PGR4|G-protein coupled receptor 120|G-protein coupled receptor 129|G-protein coupled receptor GT01|G-protein coupled receptor PGR4|G-protein-coupled receptor GT01 protein-coding 1317902 GPR123 G protein-coupled receptor 123 1580863 16385451,12565841,17212699,15203201,18682798,16344560,15164054,14702039,12679517,11347906 84435 NM_001083909,AL445199,CH471211,AB058731,AK090982,AK094675,AK098741,AK124728,AY181241,AY255564,BC044247,BG818167,CB045391,DA398101,EF536972 NP_001077378,CAO03417,CAO03418,EAW61312,EAW61313,BAB47457,AAO27353,AAO85076,ABQ08572,Q86SQ6,AAI46321 Hs.435183 FLJ25875|FLJ37356 probable G-protein coupled receptor 123 protein-coding 1312494 GPR124 G protein-coupled receptor 124 1580863 16344560,15203201,16982628,15021905,14702039,12565841,12477932,12168954,11559528,10819331,19448619,19853600 25960 AI346793,DA569569,NM_032777,AC138356,CH471080,AB040964,AF378755,AK027296,AK074099,AL110244,AL137610,AL832524,AL832959,AY090637,AY181242,BC146774,CR603687 NP_116166,EAW63354,EAW63355,EAW63356,EAW63357,EAW63358,EAW63359,BAA96055,AAL11992,BAB55022,BAB84925,CAB53694,CAD38629,CAH56283,AAM09084,AAO27354,AAI46775,Q658W4,Q6YN44,Q96PE1 Hs.274136 DKFZp434C211|DKFZp434J0911|FLJ14390|KIAA1531|TEM5 probable G-protein coupled receptor 124|tumor endothelial marker 5 protein-coding 1312627 GPR125 G protein-coupled receptor 125 1580863 20677014,15203201,17457313,17081983,15489334,15021905,14702039,12975309,12565841,12477932 166647 NM_145290,AC093735,AC093814,CH471069,AK027494,AK095866,AK299168,AL832257,AY181243,AY358306,AY360366,BC026009,BC035645,BX416923,BX648287,CR592300 NP_660333,EAW92801,BAG53149,BAG61215,AAO27355,AAQ88673,AAH35645,Q6JN45,Q8IWK6,AAR11374 Hs.99195 PGR21|TEM5L OTTHUMP00000219295|TEM5-like|probable G-protein coupled receptor 125 protein-coding 1318390 GPR126 G protein-coupled receptor 126 This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq] 20546612,20677014,19343178,20010835,20379614,20397748,18304421,19266077,18391951,18391950,17109822,16335952,16303743,15225624,15189448,15084671,14702039,12565841,12477932,12119602,11410839,8076819,15203201 57211 NM_198569,NM_020455,NM_001032394,NM_001032395,NG_011839,AL033377,AL360007,CH471051,AB183546,AB183547,AB183548,AB183549,AF216967,AK027843,AK075087,AK092519,AK122617,AK299785,AK307543,AL080079,AY181244,AY426673,BC036008,BC075798,BX640873,BX640971,BX648315,CR602390 NP_940971,NP_065188,NP_001027566,NP_001027567,CAI20053,EAW47875,EAW47876,EAW47877,EAW47878,EAW47879,EAW47880,EAW47881,BAD27571,BAD27572,BAD27573,BAD27574,AAO13250,BAB55406,BAC11393,BAG61666,AAO27356,AAR88427,AAH75798,CAE45930,CAE45986,Q86SQ4 Hs.726094 APG1|DREG|PS1TP2|VIGR G-protein coupled receptor 126|HBV PreS1-transactivated protein 2|developmentally regulated G-protein-coupled receptor|vascular inducible G protein-coupled receptor|vascular-inducible G protein-coupled receptor protein-coding 1316279 GPR128 G protein-coupled receptor 128 1580863 15203201,17081983,15342556,14702039,12565841,12477932 84873 NM_032787,AC069223,CH471052,AK027360,AK122804,AK131069,AK172769,AK172774,AK295345,AY181246,BC113451,BC130388,BP270648 NP_116176,EAW79818,BAB55061,BAD18752,BAD18756,BAH12039,AAO27358,AAI13452,AAI30389,Q6ZMH0,Q6ZMH4,Q96K78,ADR83395 Hs.334511 FLJ14454|FLJ16382|FLJ29035|MGC142011|MGC163260 probable G-protein coupled receptor 128 protein-coding 1321937 GPR132 G protein-coupled receptor 132 This gene encodes a subfamily member of the G-protein couple receptor (GPCR) superfamily. The encoded protein is a high-affinity receptor for lysophosphatidylcholine (LPC), a major phospholipid component of oxidized low density lipoprotein. This protein may react to LPC levels at sites of inflammation to limit the expansion of tissue-infiltrating cells. A similar protein in mouse is involved in cell cycle progression. [provided by RefSeq] 1580863 18174230,18089568,18034171,17475884,16236715,15665078,15489334,15280385,12805023,12586833,12482833,12477932,12086852,9770487,19855098,19948975,16754659 29933 NM_013345,AL512356,CH471061,CQ859766,AB465599,AB465600,AF083955,AK292142,AK303654,BC004555,BC084546,BT007257,EU432121,EU543705 NP_037477,EAW81898,CAH25933,BAG84609,BAG84610,AAD47380,BAF84831,BAG64656,AAH84546,AAP35921,ABY87920,ACC61682,Q9UNW8 Hs.532504 G2A|MGC99642 G protein-coupled receptor G2A|G2 accumulation protein|OTTHUMP00000178739|probable G-protein coupled receptor 132 protein-coding 1344919 GPR133 G protein-coupled receptor 133 19729412,20031603,15203201,18464913,16344560,15489334,14702039,12679517,12477932,20379614 283383 NM_198827,AC073862,AC078925,AC126564,AK131538,AL162032,AY255587,AY278561,AY532280,BC047951,BC112307,BC112309,BC143775,BX649116,DA520615,EU523118 NP_942122,BAD18674,CAB82385,AAO85099,AAP35063,AAS37682,AAI12308,AAI12310,AAI43776,ACB20802,Q6QNK2,Q9NSM3 Hs.719239 DKFZp434B1272|FLJ16770|MGC138512|MGC138514|PGR25 G-protein coupled receptor PGR25|probable G-protein coupled receptor 133 protein-coding 736248 GPR135 G protein-coupled receptor 135 1302390,1580863 15489334,14623098,12679517,12477932,16169070,20198315 1302390 64582 NM_022571,AB065563,AL159140,CH471061,AY255588,AY288418,BC032831,BX094623,M76676 NP_072093,BAC05800,EAW80751,AAO85100,AAP72127,AAH32831,AAB97766,Q14968,Q8IZ08,ABM84287,ABM87679 Hs.647573 HUMNPIIY20 OTTHUMP00000179032|probable G-protein coupled receptor 135 protein-coding 1604608 GPR137 G protein-coupled receptor 137 15489334,14702039,12477932,10873569,8889548 56834 NM_020155,AP001453,CH471076,AJ250392,AK056094,AK300209,AK302256,BC020396,BC029297,BC033920,BC035002,BI830247,BU730608,BU730610,BX119209,NM_001170726,NM_001170880,NM_001170881,NM_001177358 NP_064540,EAW74237,EAW74238,EAW74239,EAW74240,CAB96540,BAB71093,BAG61979,BAH13657,AAH33920,AAH35002,Q96N19,Q9NQC5,NP_001164197,NP_001164351,NP_001164352,NP_001170829 Hs.523763 C11orf4|GPR137A|TM7SF1L1 integral membrane protein GPR137|transmembrane 7 superfamily member 1-like 1 protein protein-coding 1316484 GPR137B G protein-coupled receptor 137B 1580863 9521871,15489334,12477932,12446740,9373149,8125298,21107309 7107 CR614154,NM_003272,AL122018,AL139162,CH471098,AF027826,AI634648,AK223632,AK295408,AK301552,AK312908,AY242135,BC012100,CR541770,CR602894,CR608564,CR610907 CAI23523,NP_003263,CAI22684,CAI23524,CAI23528,EAW70043,EAW70044,AAC39669,BAD97352,BAG58359,BAG63048,BAG35754,AAO92302,AAH12100,CAG46569,O60478,Q5TAF0,Q5TAF1 Hs.498160 TM7SF1 OTTHUMP00000036107|integral membrane protein GPR137B|transmembrane 7 superfamily member 1 (upregulated in kidney)|transmembrane 7 superfamily member 1 protein protein-coding 1603253 GPR137C G protein-coupled receptor 137C 16341674,12679517 283554 NM_001099652,AL133453,AL157971,CH471078,AK123953,AK293812,AL834372,AW470753,AY255590,BM842962,BX647179 NP_001093122,EAW65648,BAG53984,BAG57218,CAD39035,AAO85102,CAH10564,Q6AWC7,Q8N3F9,AAI60121 Hs.416214 DKFZp762F0713|TM7SF1L2 G protein-coupled receptor TM7SF1L2|integral membrane protein GPR137C|transmembrane 7 superfamily member 1-like 2 protein protein-coding 1323337 GPR139 G protein-coupled receptor 139 15845401,15777626,12679517,12044878,11863363,12477932 124274 NM_001002911,AC021089,AJ303165,CH471186,AB196529,AK291384,AY255545,AY635179,BC137237,BC137238 NP_001002911,CAC33085,EAW50306,BAD97440,BAF84073,AAO85057,AAT65818,AAI37238,AAI37239,Q6DWJ6,Q9BYT4 Hs.446875 GPRg1|PGR3 G protein-coupled receptor PGR3|G-protein-coupled receptor PGR3|g(q)-coupled orphan receptor GPRg1|probable G-protein coupled receptor 139 protein-coding 736698 GPR141 G protein-coupled receptor 141 GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390 15489334,14623098,12690205,12679517,12477932 1302390 353345 CH471073,AY255538,AY288420,BC120951,BC120952,NM_181791,AC083865,CH236951 EAL23980,EAW94082,AAO85050,AAP72129,AAI20952,AAI20953,Q7Z602,NP_861456 Hs.688230 PGR13 G-protein coupled receptor PGR13|OTTHUMP00000128301|OTTHUMP00000207130|probable G-protein coupled receptor 141 protein-coding 1352818 GPR142 G protein-coupled receptor 142 GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390,1580863 18029348,15845401,14623098,12679517,12477932 1302390 350383 NM_181790,AB065914,AC055863,AC103809,CH471099,AB196530,AY255622,AY288421,BC143807 NP_861455,BAC06129,EAW89157,EAW89158,BAD97441,AAO85134,AAP72130,Q7Z601,Q8NGB0,AAI52735,AAI52988 Hs.574368 PGR2 G-protein coupled receptor PGR2|probable G-protein coupled receptor 142 protein-coding 1353035 GPR143 G protein-coupled receptor 143 Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes. [provided by RefSeq] 1580863 20649618,10471510,7647783,19390656,19123159,18978956,18828673,18798082,18523664,17960122,17822861,17516023,17081065,16754205,16646960,12868035,12643545,12538723,12477932,11793467,11214907,11115845,10094567,9887374,9529334,8634705,8230160,2573275,16524428,16621890,19604113,19610097,19717472 4935 NM_000273,NG_009074,AC003036,AC090481,CH471074,BC015657,BC068977,Z48804,BU188283 NP_000264,EAW98773,AAH68977,CAA88742,P51810 Hs.74124 NYS6|OA1 G-protein coupled receptor 143|OTTHUMP00000022884|OTTHUMP00000022885|ocular albinism type 1 protein protein-coding 1345193 GPR143P G protein-coupled receptor 143 pseudogene 12815422 352896 NG_002814,AC012068 OA1P pseudo 1350453 GPR144 G protein-coupled receptor 144 20379614,15203201,15164053,14702039,12679517 347088 NM_001161808,AB065601,AL137846,CH471090,AK022431,AY255620,AY278562,EF107715,EF107716,EF107717,EF107718 NP_001155280,BAC05829,CAI10884,EAW87586,EAW87587,EAW87588,EAW87589,EAW87590,AAO85132,AAP35064,ABK96967,ABK96968,ABK96969,ABK96970,Q7Z7M1 Hs.454099 PGR24 G protein-coupled receptor PGR24|G-protein coupled receptor GPR144|G-protein coupled receptor PGR24|probable G-protein coupled receptor 144 protein-coding 1345247 GPR146 G protein-coupled receptor 146 1580863 15777626,15489334,12690205,12679517,12477932 115330 AC073957,CH236965,CH471144,AK300166,AK313171,AY255535,BC014241,NM_138445 NP_612454,EAL23710,EAW87191,BAG61948,BAG35988,AAO85047,AAH14241,Q96CH1,ABM83585,ABM86825 Hs.585007,Hs.718624 PGR8 G protein-coupled receptor PGR8|G-protein coupled receptor PGR8|OTTHUMP00000115491|OTTHUMP00000200092|OTTHUMP00000200093|probable G-protein coupled receptor 146 protein-coding 1347773 GPR148 G protein-coupled receptor 148 15777626,15688318,15489334,12679517,12477932,12044878 344561 NM_207364,AB083589,AC140481,CH471250,AY255532,AY280965,AY569570,BC105013,BC105041 NP_997247,BAB89302,EAW51274,AAO85044,AAP34196,AAS76892,AAI05014,AAI05042,Q8TDV2 Hs.452574 BTR|PGR6 G protein-coupled receptor PGR6|G-protein coupled receptor PGR6|brain and testis restricted GPCR|probable G-protein coupled receptor 148 protein-coding 1346454 GPR149 G protein-coupled receptor 149 1580863 12679517,20379614 344758 NM_001038705,AC092946,CH471052,AY255534,DQ318360 NP_001033794,EAW78760,AAO85046,ABC49857,Q2MKA6,Q86SP6,AAI56850 Hs.688231 IEDA|PGR10 G protein-coupled receptor PGR10|G-protein coupled receptor PGR10|probable G-protein coupled receptor 149 protein-coding 1315368 GPR15 G protein-coupled receptor 15 1580863 8838812,15650194,15489334,12566994,12555203,12477932,11696454,10985245,9236192,9230441,15992849,17207965 2838 NM_005290,AC021660,CH471052,U34806,AK313375,BC069437,BC101779,BC101781,FJ348263 NP_005281,EAW79855,AAC50826,BAG36173,AAH69437,AAI01780,AAI01782,P49685,ACI96307,ADQ31969 Hs.563128 MGC126828|MGC126830 BOB|G-protein coupled receptor 15|brother of Bonzo protein-coding 1343055 GPR150 G protein-coupled receptor 150 1580863 15777626,12679517,12477932 285601 NM_199243,AB065678,AC008547,CH471084,BC030197 AAH30197,Q05C22,Q8NGU9,AAI56089,NP_954713,BAC05903,EAW96041 Hs.143315 PGR11 probable G-protein coupled receptor 150|seven transmembrane helix receptor protein-coding 1350857 GPR151 G protein-coupled receptor 151 1580863 15111018,12679517,12044878 134391 NM_194251,AB065674,AB083592,AC011375,CH471062,AY255557,AY351676 NP_919227,BAC05899,BAB89305,EAW61839,AAO85069,AAQ62567,Q8TDV0,AAI40431,AAI56568 Hs.483732 GALR4|GALRL|GPCR|PGR7 G-protein coupled receptor PGR7|GPCR-2037|galanin receptor 4|galanin receptor-like|probable G-protein coupled receptor 151|putative G-protein coupled receptor protein-coding 1354216 GPR152 G protein-coupled receptor 152 1580863 15777626,15489334,12679517,12477932,12044878 390212 NM_206997,AB065853,AB083620,AP003419,AY255600,AY569571,BC119779,BC122869 NP_996880,BAC06071,BAB89333,AAO85112,AAS76893,AAI19780,AAI22870,Q8TDT2 Hs.567997 MGC148162|PGR5 G protein-coupled receptor PGR5|probable G-protein coupled receptor 152 protein-coding 1319513 GPR153 G protein-coupled receptor 153 16710414,15777626,15489334,12679517,12477932 387509 NM_207370,AL031847,CH471130,AY255529,BC068275,CR613469,CR627473,BQ575651 NP_997253,CAI19434,EAW71526,AAO85041,AAH68275,CAH10674,Q6NV75 Hs.531581,Hs.724283 DKFZp762B2210|PGR1 G-protein coupled receptor PGR1|probable G-protein coupled receptor 153 protein-coding 1319348 GPR155 G protein-coupled receptor 155 1580863 16381901,15815621,15489336,15489334,14702039,12679517,12477932,11230166,11076863,20379614 151556 NM_001033045,AC010894,AC018470,CH471058,AK056381,AK091200,AK096665,AK307896,AK315125,AL834154,NM_152529,AY255528,BC028730,BC035037,BC036681,BI548910,BX537947 Q49AJ5,Q7Z3F1,CAL38088,ABM82655,ABM85832,NP_689742,NP_001028217,AAY14707,AAY24218,EAX11137,EAX11138,EAX11139,BAB71170,BAC03609,BAC04835,BAG37579,CAH10683,AAO85040,AAH28730,AAH35037,AAH36681,CAD97915 Hs.516604 DEP.7|DEPDC3|FLJ31819|FLJ39346|PGR22 G-protein coupled receptor PGR22|integral membrane protein GPR155 protein-coding 736790 GPR156 G protein-coupled receptor 156 G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM] 1299444,1580863 15489334,12679517,12591167,12477932,20677014,15203218 1299444 165829 NM_153002,AC092897,CH471052,AB209362,AF488739,AY255565,BC113701,BC143606,AI201720,BX115336,CD638213,NM_001168271 NP_694547,EAW79530,BAD92599,AAN03795,AAO85077,AAI13702,AAI43607,Q59FU7,Q8NFN8,ADR83404,NP_001161743 Hs.333358 GABABL|MGC142261|PGR28 G protein-coupled receptor PGR28|G-protein coupled receptor PGR28|GABAB-related G-protein coupled receptor|OTTHUMP00000215176|OTTHUMP00000215177|ZK180.1-like|gabab-related g-protein coupled receptor|probable G-protein coupled receptor 156 protein-coding 1322370 GPR157 G protein-coupled receptor 157 12477932,10574461,16710414,15489334,14702039 80045 NM_024980,AL158048,AK022194,AK026883,AK292888,AK304154,AY768808,BC018691 NP_079256,CAM12842,BAB13982,BAF85577,BAG65043,AAV35060,Q5UAW9,AAI56510,AAI72507,ABM83730,ABM87050 Hs.632367 FLJ12132 probable G-protein coupled receptor 157 protein-coding 1314117 GPR158 G protein-coupled receptor 158 16385451,20379614,18649358,16229975,15164054,14702039,12168954,10574461,18655026 57512 NM_020752,AL139821,AL161654,AL354976,AL355587,AB032962,AK095120,AY528411 NP_065803,CAI16833,CAI16106,CAI15725,BAA86450,AAS18315,Q5T848,AAI56399,AAI57125 Hs.499108 FLJ37801|KIAA1136|RP11-59G22.1 probable G-protein coupled receptor 158 protein-coding 1345785 GPR160 G protein-coupled receptor 160 1580863 15489334,12477932,12044878,11466977,19851296,20198315 26996 NM_014373,AB083583,AC008040,CH471052,AJ249248,AK311293,BC000181,CR595782,AI560646,BX366931,BX400356,BX414005 NP_055188,BAB89296,EAW78524,EAW78525,EAW78526,CAB55314,AAH00181,Q9UJ42 Hs.231320 GPCR1|GPCR150 G-protein coupled receptor GPCR1|OTTHUMP00000213456|OTTHUMP00000213457|OTTHUMP00000213458|OTTHUMP00000213459|OTTHUMP00000213460|hGPCR1|probable G-protein coupled receptor 160|putative G protein-coupled receptor protein-coding 1607069 GPR161 G protein-coupled receptor 161 Upon ligand binding, G protein-coupled receptors, such as GPR161, activate cytoplasmic G proteins (see GNAS, MIM 139320), allowing the receptors to transduce extracellular signals across the plasma membrane into the cell. Phosphorylation of the receptor attenuates signaling (Matteson et al., 2008 [PubMed 18250320]).[supplied by OMIM] 19064610,18250320,16710414,15489334,14702039,12477932,11987825,11959142,9932290,19536175 23432 NM_153832,AL033532,CH471067,AF091890,AK056040,AK091271,AK122656,AK298797,AK298850,AK299634,AK310019,AY275468,BC028163 NP_722561,CAI22622,CAI22623,EAW90818,EAW90819,AAC61598,BAG51611,BAC03624,BAG53646,BAH12873,BAH12884,BAH13082,AAP32300,AAH28163,Q8N247,Q8N6U8,ABM84295,ABM87688 Hs.271809,Hs.632453 FLJ33952|RE2 G-protein coupled receptor 161|G-protein coupled receptor RE2|OTTHUMP00000032586|OTTHUMP00000032587|OTTHUMP00000032588 protein-coding 1603661 GPR162 G protein-coupled receptor 162 This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 15777626,15489334,12477932,9074930,8723724,19773279 27239 NM_014449,CH471116,U47924,AB209836,AK296359,AK315938,AK316512,BC002353,BC007918,BC080585,CR610872,U47925,U47928,U47929,NM_019858 NP_062832,NP_055264,EAW88735,EAW88736,EAW88737,AAB51310,AAB51311,BAD93073,BAH12329,BAH14309,BAH14883,AAH02353,AAH07918,AAH80585,AAC50463,AAC50466,AAC50467,Q13513,Q16538,Q96I00 Hs.631654 A-2|FLJ78837|GRCA gene rich cluster, A|gene-rich cluster gene A protein|probable G-protein coupled receptor 162 protein-coding 1603814 GPR165P G protein-coupled receptor 165 pseudogene 15777626 392486 NG_005303,AL592049,AX229902 PGR15 pseudo 1606358 GPR166P G protein-coupled receptor 166 pseudogene 12044878 442206 AB083591,NG_005635,NG_025935,Z85996 BAB89304,Q8TDV1 GPCR|PGR9 pseudo 1347471 GPR17 G protein-coupled receptor 17 1580863 8558062,18533035,16990797,16344560,15489334,12477932,9523551,9092554,2834384,19625605,16754659,20148890 2840 NM_005291,NM_001161415,NM_001161416,NM_001161417,AC010976,AC074114,CH471103,U33447,AK126849,AK292725,AK313949,BC013202,BC031653,BC039595,BX538082,DA154324,DA314295,DA366480,DA390892,Y12546,Z94154,Z94155 NP_005282,NP_001154887,NP_001154888,NP_001154889,EAW95337,AAB16746,BAG54380,BAF85414,BAG36667,AAH31653,CAD98006,CAA73144,CAB08107,CAB08108,Q13304,Q7Z369,ABM83379,ABM86591 Hs.46453,Hs.688940 DKFZp686M18273 G-protein coupled receptor 17|OTTHUMP00000203864|P2Y-like receptor|R12|UDP/CysLT receptor|uracil nucleotide/cysteinyl leukotriene receptor protein-coding 1353149 GPR171 G protein-coupled receptor 171 737633,1580863 9370294,12477932,11524702,7566098 737633 29909 NM_013308,AC078816,AF411849,CH471052,AA353758,AF002986,BC036815,HI574190 NP_037440,AAL47763,EAW78811,EAW78812,AAC51846,AAH36815,O14626,ABM81867,ABM85027,CBX47584 Hs.549152 H963 F730001G15Rik|G-protein coupled receptor H963|OTTHUMP00000216782|platelet activating receptor homolog|probable G-protein coupled receptor 171 protein-coding 1349767 GPR172A G protein-coupled receptor 172A GPCR41 and GPCR42 (MIM 607883) act as receptors for porcine endogenous retrovirus subgroup A (PERV-A).[supplied by OMIM] 737633,1580863 20463145,15489334,14702039,12740431,12477932,12044878 737633 79581 CR606512,AC233992,AB083623,AF205589,CH471162,AK021918,AK027888,AK291581,AK303822,AY070774,BC002917,BQ772207,BQ888729,BU603018,CR591091,CR592004,CR598433,NM_024531,CR614911,CR617610,CR625605 NP_078807,BAB89336,EAW82115,EAW82116,BAB13936,BAB55433,BAF84270,BAG64770,AAL59882,AAH02917,Q8TDT0,Q9HAB3 Hs.6459 D15Ertd747e|GPCR|GPCR41|PAR1|RFT3|hRFT3 PERV-A receptor 1|porcine endogenous retrovirus A receptor 1|putative G-protein coupled receptor GPCR41|riboflavin transporter 3 protein-coding 1346677 GPR172B G protein-coupled receptor 172B GPCR41 (MIM 607882) and GPCR42 act as receptors for porcine endogenous retrovirus subgroup A (PERV-A).[supplied by OMIM] 737633,1580863 18632736,16344560,15489334,14702039,12740431,12477932,12044878,21089064 737633 55065 NM_001104577,NM_017986,AB083624,AC012146,CH471108,AB362533,AB362534,AK000922,AK023570,AK123566,AY070775,BC060810,BC092473,BU752646,CR617996,DA383729 NP_001098047,NP_060456,BAB89337,EAW90364,EAW90365,BAG71128,BAG71129,BAA91427,BAG53914,AAL59883,AAH60810,AAH92473,Q8TDS9,Q9NWF4,ACE86763,EAW90363 Hs.632247 FLJ10060|GPCR|GPCR42|PAR2|RFT1|hRFT1 G-protein coupled receptor GPCR42|PERV-A receptor 2|porcine endogenous retrovirus A receptor 2|riboflavin transporter 1 protein-coding 1347737 GPR173 G protein-coupled receptor 173 70648,1580863 10833454,18029348,15489334,12477932,8889548,19377476 70648 54328 NM_018969,BX322635,CH471154,AB040801,BC009861,BI602566,BM670611,CA445634,NG_015966,CS382016,FB764508 NP_061842,CAI42530,EAW93142,BAA96647,AAH09861,Q9NS66,ABM84202,ABM87606,CAL39132,CAV30662 Hs.193011 SREB3 OTTHUMP00000023334|g-protein coupled receptor 173|probable G-protein coupled receptor 173|super conserved receptor expressed in brain 3 protein-coding 1345699 GPR174 G protein-coupled receptor 174 1580863 15772651,15489334,12477932,12044878 84636 NM_032553,AB083599,AL590222,AY242133,CH471104,AF345567,BC104922,BC104924,NG_016565 NP_115942,BAB89312,CAD13458,AAO92300,EAW98593,AAK29070,AAI04923,AAI04925,Q9BXC1 Hs.326713 FKSG79 probable G-protein coupled receptor 174 protein-coding 737562 GPR176 G protein-coupled receptor 176 Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM] 20677014,20379614,7893747,15489334,12477932 11245 AK302715,NM_007223,AC012377,AC023908,CH471125,BC067106,D38449 NP_009154,EAW92385,EAW92386,BAG63935,AAH67106,BAA07481,Q14439 Hs.37196 GPR|Gm1012 HB-954|probable G-protein coupled receptor 176|putative G protein coupled receptor protein-coding 1605334 GPR177 G protein-coupled receptor 177 15489334,14702039,12975309,12761501,12477932,16710414,16678095,16303743,19801982,20200978,20214800,20548944,17804805,16344560 79971 AK309779,AW137622,AY359035,BC007211,BC110826,BC137109,BC137113,BG701224,BX538320,BX648748,CR591378,CR602492,CR624611,DQ323735,NM_001002292,NM_024911,AL157407,AL513284,CH471059,CQ782961,AB097018,AI217373,AK026744,AK074583,AK074984,AK301613,BX537492,CA438784,DA753300,DB478499,NM_001193334 AAQ89394,AAH07211,AAI10827,AAI37110,AAI37114,CAD98094,ABD58927,Q5JRS7,Q5T9L3,Q7Z430,Q8N2N3,Q96IV8,Q9H5T0,NP_001002292,NP_079187,CAI21993,CAI15023,CAI15024,CAI15025,CAI15026,CAI15027,EAX06479,EAX06480,EAX06481,CAF86190,BAC77371,BAB15540,BAC11072,BAC11333,BAH13523,NP_001180263 Hs.647659 C1orf139|DKFZp686I0788|EVI|FLJ23091|GPR177|MGC131760|MGC14878|MRP|WLS G protein-coupled receptor 177|integral membrane protein GPR177|protein evenness interrupted homolog|protein wntless homolog|putative NF-kappa-B-activating protein 373|putative NFkB activating protein 373 protein-coding 1601901 GPR179 G protein-coupled receptor 179 16625196,16229975 440435 NM_001004334,AC115992,AC183084,AY584611 Q6PRD1,AAI72753,NP_001004334,AAS91740 Hs.462915 GPR158L1 GPR158-like 1|probable G-protein coupled receptor 158-like 1|probable G-protein coupled receptor 179 protein-coding 1344300 GPR18 G protein-coupled receptor 18 1580863 9205118,16844083,15489334,15057823,12477932,11991713,18577758 2841 NM_001098200,NM_005292,AL160155,CH471085,L42324,AA825595,AF261135,AF339781,BC008569,BC050646,BC066927,BI770379,BT009907 NP_001091670,NP_005283,CAI14306,CAI14307,EAX09017,AAB65819,AAG44671,AAH08569,AAH50646,AAH66927,AAP88909,Q14330,Q5JUH9 Hs.631765 G-protein coupled receptor 18|N-arachidonyl glycine receptor|NAGly receptor|OTTHUMP00000018613|OTTHUMP00000018614 protein-coding 1604518 GPR180 G protein-coupled receptor 180 This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. 15489334,15057823,14702039,12730718,12538434,12477932,11991713 160897 AL359708,CH471085,AI016274,AK024059,AK126794,AK289850,BC033906,BC052243,BG112926,BI856811,BX348762,CA435391,CD110068,NM_180989,AL832739 NP_851320,CAI12412,EAX08942,EAX08943,EAX08944,BAC86697,BAF82539,AAH52243,Q5JPG5,Q6ZT96,Q86V85,CAI46124 Hs.657472 ITR integral membrane protein GPR180|intimal thickness related receptor|intimal thickness-related receptor protein-coding 736455 GPR182 G protein-coupled receptor 182 Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq] 704371,1580863,1625768 11883938,9367907,17939601,15489334,14720432,12646214,12477932,12419522,11956648,11754983,11728267,11712085,10449538,9535752,9389548,9016306,7621913,19847298 704371,1625768 11318 NM_007264,AC026120,AY268434,CH471054,Y15287,BC034761,Y13583 NP_009195,AAP23201,EAW96970,CAC79687,AAH34761,CAA73910,O15218,Q6LAJ3,ABM81779,ABM87805 Hs.483909 7TMR|ADMR|AM-R|AMR|G10D|MGC34399|gamrh|hrhAMR G-protein coupled receptor 182|adrenomedullin receptor protein-coding 1346200 GPR183 G protein-coupled receptor 183 This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq] 1580863 9373149,8383238,18628402,16540462,15489334,12477932,8125298,16169070 1880 AL160155,CH471085,AI740732,AK223390,AK292091,AK313443,AW402166,AW574697,AW575283,BC020752,CR592718,CR597919,CR609579,CR614065,L08177,NM_004951 ABM82294,ABM85474,NP_004942,CAI14308,EAX09018,EAX09019,BAD97110,BAF84780,BAG36232,AAH20752,AAA35924,P32249 Hs.784 EBI2 EBV-induced G-protein coupled receptor 2|Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)|G-protein coupled receptor 183|epstein-Barr virus-induced G-protein coupled receptor 2 protein-coding 1344105 GPR19 G protein-coupled receptor 19 1580863 8830667,16344560,16303743,14702039,10480372,12477932,18029348 2842 NM_006143,AC008115,CH471094,CQ782654,U55312,U64871,AK074729,AK096388,BC150599,CR456832,DB022290 NP_006134,EAW96271,CAF85902,AAB00316,AAB49751,BAG51993,AAI50600,CAG33113,Q15760,Q6IBH2 Hs.657862 GPR-NGA|probable G-protein coupled receptor 19 protein-coding 733771 GPR20 G protein-coupled receptor 20 1580863 9073069,18347022,12477932 2843 NM_005293,AC100803,CH471060,U66579,AA601037,AB209066,BC117409,DR006873 NP_005284,EAW92227,AAC51302,BAD92303,AAI17410,Q59GP3,Q99678 Hs.188859 G-protein coupled receptor 20 protein-coding 1351876 GPR21 G protein-coupled receptor 21 1580863 9073069,15489334,12477932 2844 NM_005294,AC007066,CH471090,U66580,AK299686,AK313539,BC066885,BC066886,BC067532,BC067533,BC067534 NP_005285,EAW87559,AAC51303,BAG61593,BAG36316,AAH66885,AAH66886,AAH67532,AAH67533,AAH67534,Q6NWM5,Q99679 Hs.271341,Hs.727598 OTTHUMP00000022075|probable G-protein coupled receptor 21 protein-coding 1321987 GPR22 G protein-coupled receptor 22 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq] 1580863 9073069,18539757,16344560,15955843,14702039,12853948,12690205,12477932,20112360,21068099 2845 HC289746,NM_005295,AC002381,CH236947,CH471070,U66581,AB209270,AK122621,AK307393,BC045823,BC107128,BX647649,DA519131 CBJ06468,NP_005286,AAB63815,EAL24394,EAW83398,AAC51304,BAD92507,BAG53625,AAI07129,Q3KNS9,Q59G39,Q99680 Hs.657277 MGC129847 probable G-protein coupled receptor 22 protein-coding 1323161 GPR25 G protein-coupled receptor 25 1580863 9020062,17386346,15489334,12477932 2848 NM_005298,AC099756,CH471067,U91939,BC126386,BC126388,AK315339 NP_005289,EAW91322,AAB50155,AAI26387,AAI26389,O00155 Hs.534316 probable G-protein coupled receptor 25 protein-coding 736769 GPR26 G protein-coupled receptor 26 1580863 18037267,15489334,14702039,12477932,11854302,10684976,8401585,17363172,19787267,20379614 2849 NM_153442,AC009987,CH471066,AI076749,AJ505757,AK091093,AL713636,BC112011,BC113462 NP_703143,EAW49281,EAW49282,CAD44281,AAI12012,AAI13463,Q8NDV2 Hs.12751 DKFZp761H2121|FLJ33774|MGC138216 G-protein coupled receptor 26 protein-coding 733557 GPR27 G protein-coupled receptor 27 70648,1580863 10833454 70648 2850 NM_018971,AC096970,CH471055,AB040799,CS382012,FB764504 NP_061844,EAW65505,BAA96645,Q9NS67,AAI60129,CAL39130,CAV30660 Hs.591653 SREB1 probable G-protein coupled receptor 27|super conserved receptor expressed in brain 1 protein-coding 1350754 GPR3 G protein-coupled receptor 3 1580863 20158988,7639700,17953967,16710414,15489334,12649592,12477932,8530049,7851889,7832990,7698767 2827 NM_005281,AL096774,CH471059,L32831,U13668,U18550,X83956,AK291185,AK314868,BC032702 NP_005272,CAC18517,EAX07754,AAA73560,AAA64594,AAB60402,CAA58787,BAF83874,BAG37383,AAH32702,P46089,ABM81758,ABM84913 Hs.66542 ACCA ACCA orphan receptor|G-protein coupled receptor 3|adenylate cyclase constitutive activator protein-coding 1313066 GPR31 G protein-coupled receptor 31 1580863 9205127,14574404,12477932 2853 NM_005299,AL121935,CH471051,U65402,BC095537,CD246167 NP_005290,CAB99329,EAW47505,AAC51375,AAH95537,O00270,Q4VBL3,AAI67778 Hs.248124 bA517H2.2 (G protein-coupled receptor 31)|probable G-protein coupled receptor 31 protein-coding 1343074 GPR32 G protein-coupled receptor 32 1580863 9653656,15489334,12477932,20080636 2854 AC010325,AF045764,CH471135,BC067453,BC067454,BC095544,NM_001506 AAC39801,EAW71898,AAH67453,AAH67454,AAH95544,O75388,NP_001497 Hs.515555 probable G-protein coupled receptor 32 protein-coding 1343447 GPR32P G protein-coupled receptor 32, pseudogene 9653656 2855 NG_001131,AC010325,AF045765 GPR32P1 pseudo 1351733 GPR33 G protein-coupled receptor 33 (gene/pseudogene) GPR33 is related to chemokine and chemoattractant receptors that control leukocyte chemotaxis. The most common GPR33 allele in humans contains a premature stop codon (Rompler et al., 2005 [PubMed 15987686]).[supplied by OMIM] 15987686,9653656,20399748 2856 GQ981321,GQ981322,NR_036675,AF045767,AL163973,AY494000,NM_001197184 ADJ17324,AAR98754,Q49SQ1,NP_001184113 Hs.727479 G protein-coupled receptor 33|G protein-coupled receptor 33 pseudogene|G protein-coupled receptor 33, pseudogene|g protein-coupled receptor 33, pseudogene|probable G-protein coupled receptor 33 protein-coding 1349710 GPR34 G protein-coupled receptor 34 G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM] 1580863 10036181,16341674,16303743,15489334,14702039,12477932,10982042,10395919,8889549,16338117 2857 NM_005300,AF118670,AL627402,CH471141,AA130392,AF039686,AK027780,AK074627,AK075217,AK122945,AW292321,BC020678,BM798913,CR597947,NM_001097579,CR603494,CR609581,CR626343,DQ106398,DQ106399,DQ106400,DQ106401,DQ106402,H03136,N40174 NP_001091048,NP_005291,AAD17248,CAH71242,EAW59396,EAW59397,AAD50531,BAB55362,BAG51978,BAG52087,BAG53811,AAH20678,AAZ99227,AAZ99228,AAZ99229,AAZ99230,AAZ99231,Q3SAH0,Q3SAH2,Q5VT14,Q9UPC5,ABM84024,ABM87369 Hs.495989 probable G-protein coupled receptor 34 protein-coding 1344931 GPR34P G protein-coupled receptor 34 pseudogene 2858 1319732 GPR35 G protein-coupled receptor 35 1580863 20599711,9479505,18271057,17940199,15489334,14965362,12477932,11017071,947955,16341674,16344560,16754668,20361937 2859 CR541765,AC124862,AF027957,AY275467,CH471063,AF089087,AK131540,AK290256,BC095500,BC117453,BC117455,NM_005301,AK172786,AK314002,AW000832,BM857130,DB011311,NM_001195381,NM_001195382 CAG46564,Q6ZMP9,Q9HC97,NP_005292,AAX88945,AAC52028,AAP32299,EAW71209,EAW71210,AAG17965,BAD18676,BAF82945,AAH95500,AAI17454,AAI17456,BAG36714,NP_001182310,NP_001182311 Hs.112218,Hs.728559 G-protein coupled receptor 35|KYNA receptor|OTTHUMP00000201393|OTTHUMP00000201394|OTTHUMP00000201395|kynurenic acid receptor protein-coding 1347063 GPR36 G protein-coupled receptor 36 2860 735262 GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like) 1580863 9144577,19218498,18691389,17059562,16539653,15489334,14532270,12853948,12690205,12670421,12477932,12150907,11439185,9526070,9339362,19799451,20237496,20424473 2861 NM_005302,AC004925,CH236947,CH471070,Y12476,AF017262,AF502281,BC040007 NP_005293,AAD08853,EAL24325,EAW83613,CAA73080,AAB70008,AAM18625,AAH40007,O15354 Hs.725956 EDNRBL|PAELR|hET(B)R-LP ETBR-LP-1|Parkin-associated endothelin receptor-like receptor|endothelin B receptor-like protein 1|endothelin receptor type B-like|probable G-protein coupled receptor 37 protein-coding 1606828 GPR37L1 G protein-coupled receptor 37 like 1 9539149,15489334,12477932,9373149,8125298,20237496,20360844 9283 NM_004767,AJ310210,AL592300,AK222639,AK295576,AK313044,BC050334,Y16280 NP_004758,CAI13106,BAD96359,BAG58475,BAG35876,AAH50334,CAA76153,O60883 Hs.132049 ET(B)R-LP-2|ETBR-LP-2 G-protein coupled receptor 37 like 1|G-protein coupled receptor 37-like 1|endothelin B receptor-like protein 2|endothelin type b receptor-like protein 2 protein-coding 1315539 GPR39 G protein-coupled receptor 39 1580863 9441746,18588883,18180304,17885920,17488974,17054911,16959833,16344560,15815621,15489334,15383539,14702039,12477932,8889548,18815158,19920139,20379614,20424473,20522546 2863 AC079773,AC098800,AC104405,CH471058,CS323625,AF034633,AI459805,AK122643,AK314895,BC125046,BC125047,BK005609,NM_001508,BM981455,DA596795,DA636860,DA653793,EU076432,FJ348258,FB667670 NP_001499,AAX93106,AAY24154,EAX11678,EAX11679,EAX11680,CAK96158,AAC26082,BAG53636,BAG37409,AAI25047,AAI25048,DAA06055,ABU53902,O43194,Q53RU7,ACI96302,CAS92673 Hs.727787,Hs.432395 MGC149541 G-protein coupled receptor 39 protein-coding 1323148 GPR4 G protein-coupled receptor 4 1580863 7498459,8595909,17462861,17437524,17364894,16461426,16344560,15857892,15489334,15221007,14567679,12955148,12805023,12477932,7832990,20211729,18029348,16754659 2828 NM_005282,AC011480,CH471126,L36148,U21051,AK290698,BC038450,BC067535,BC067536,BE669939,DA858082,EU432116 NP_005273,EAW57368,AAA63180,AAA98457,BAF83387,AAH67535,AAH67536,ABY87915,P46093 Hs.17170 G-protein coupled receptor 19|G-protein coupled receptor 4 protein-coding 1352673 GPR42P G protein-coupled receptor 42 pseudogene 1580863 15684720,15057824,12496283,12477932,9344866,19460454,19630535 2866 NG_008348,AC002511,AF024689 AAB67885,AAB86712,AAI56086,AAI56954 FFAR1L|FFAR3L|GPR41L|GPR42|GPR42P pseudo 1323730 GPR44 G protein-coupled receptor 44 G protein-coupled receptors (GPCRs), such as GPR44, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM] 1580863 19913121,20628086,9973380,10036181,19494281,19392992,19290788,19247692,19230460,19010788,18835884,18802357,18777142,17910949,17878378,17714552,17541272,17016057,16378605,16030019,15789622,15507393,15489334,15345705,15065763,14668348,12477932,12230502,11801628,11208866,20491797,18577758,19423540,20035740,20107720,20406964,20438785,19796209,19839971,2834384 11251 NM_004778,AF118265,AP000777,CH471076,AB008535,AF144308,AK291371,AK313849,AY507142,BC096841,NG_016170 NP_004769,AAD21055,EAW73902,BAA74518,AAD34539,BAF84060,AAR92484,AAH96841,Q9Y5Y4 Hs.299567 CD294|CRTH2|DL1R|DP2 chemoattractant receptor homologous molecule expressed on T helper type 2 cells|chemoattractant receptor-homologous molecule expressed on TH2 cells|putative G-protein coupled receptor 44 protein-coding 1314767 GPR45 G protein-coupled receptor 45 This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq] 17474147,15815621,15489334,12477932,11027575,11027574,10036181 11250 NM_007227,AC012360,AF118266,CH471127,BC066879,BC066880,BC067455,EU883573,U92642 NP_009158,AAY15009,AAD21056,EAX01766,AAH66879,AAH66880,AAH67455,ACG60647,AAB93884,O43898,Q9Y5Y3 Hs.590903 PSP24|PSP24(ALPHA)|PSP24A PSP24-1|PSP24-alpha|high-affinity lysophosphatidic acid receptor|probable G-protein coupled receptor 45 protein-coding 1346636 GPR50 G protein-coupled receptor 50 1580863 8647286,18400093,18075476,16778767,16436372,15452587,15342556,12767050,12477932,9933574,20210849,20657642,20733416,19699797,20050988,20351714,20371266,20377855,20424473 9248 AY114101,AY114102,BC103696,BC105683,BC105684,BP245442,EU432118,U52219,NM_004224,AF003625,CH471169,NG_016405 AAM78368,AAM78369,AAI03697,AAI05684,AAI05685,ABY87917,AAC50614,Q13585,Q7Z581,Q7Z582,NP_004215,EAW99402 Hs.567390 H9|MGC125342|Mel1c melatonin-related receptor protein-coding 1353875 GPR52 G protein-coupled receptor 52 Members of the G protein-coupled receptor (GPR) family play important roles in signal transduction from the external environment to the inside of the cell.[supplied by OMIM] 1580863 9931487,16710414,16344560,15489334,12477932 9293 AF096784,AL022171,CH471067,BC067456,BC067457,BC067458,BC067459,BC067460,BC069460,BC095532,NM_005684,DB168074,DA174341 NP_005675,AAD22409,CAA18160,EAW90976,AAH67456,AAH67457,AAH67458,AAH67459,AAH67460,AAH69460,AAH95532,Q9Y2T5 Hs.673850 MGC111751 probable G-protein coupled receptor 52 protein-coding 1343401 GPR53P G protein-coupled receptor 53, pseudogene 9931487 9292 NG_001217,AF096785,AL662826,AL662860,BX000688,BX247947,BX927223,CR759768,CR759770,CR788300,CR942274 PsiGPR53|dJ271M21.8 pseudo 1348516 GPR55 G protein-coupled receptor 55 Members of the G protein-coupled receptor (GPR) family, such as GPR55, play important roles in signal transduction from the external environment to the inside of the cell (Sawzdargo et al., 1999 [PubMed 9931487]).[supplied by OMIM] 9931487,18757503,18445684,18263732,17876302,17765871,15489334,12477932,20051382,18240029,19723626,19805329,20506567,19913121,20628086,18577758 9290 NM_005683,AC012507,AF096786,CH471063,AK292223,BC032694,CR541776,FJ348259 NP_005674,AAD22410,EAW70940,BAF84912,AAH32694,CAG46575,ACI96303,Q9Y2T6,ABM81807,ABM84961,EAW70939 Hs.114545 G-protein coupled receptor 55|OTTHUMP00000164296|OTTHUMP00000204443|OTTHUMP00000204444 protein-coding 1352005 GPR56 G protein-coupled receptor 56 This gene encodes a member of the G protein-coupled receptor family. The protein contains 7 transmembrane domains and a mucin-like domain in the N-terminal region. The gene is implicated in the regulation of brain cortical patterning. The protein binds specifically to transglutaminase 2 in the extracellular space. Expression of this gene is downregulated in melanoma cell lines, and overexpression of this gene can suppress tumor growth and metastasis. Mutations in this gene result in bilateral frontoparietal polymicrogyria. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 708336 10049584,15004227,15044805,15674329,18042463,17932623,17314516,16757564,16344560,16303743,15916848,15340161,12975309,12477932,11845408,10100861,15489334,20874003,19016831,19525879,20008459,20424473 708336 9289 NM_005682,NM_001145770,NM_001145772,NM_201524,NM_001145771,NM_001145773,NM_201525,NM_001145774,NG_011643,AB065909,AC018552,CH471092,AF106858,AJ011001,AK074399,AK075270,AK075555,AK131550,AK297236,AK299110,AK311156,AK312405,AL137591,AY358400,BC008770,BC013207,BE893273,BT007311,CR936747,DA245676,DA386131,DC369393,EU432119 NP_005673,NP_001139242,NP_001139244,NP_958932,NP_001139243,NP_001139245,NP_958933,NP_001139246,BAC06124,EAW82939,EAW82940,EAW82941,EAW82942,EAW82943,EAW82944,EAW82945,AAD30545,CAB37294,BAG52099,BAG52166,BAD18684,BAG59718,BAG61166,AAQ88766,AAH08770,AAP35975,ABY87918,Q6ZMP1,Q9Y653 Hs.513633 BFPP|DKFZp781L1398|TM7LN4|TM7XN1 7-transmembrane protein with no EGF-like N-terminal domains-1|EGF-TM7-like|G-protein coupled receptor 56 protein-coding 737528 GPR6 G protein-coupled receptor 6 632853,1580863 7832990,15489334,14574404,12649592,12477932,8530049,20677014 632853 2830 AL591076,CH471051,L36150,U18549,BC043414,BC117298,BC126301,CF147782,NM_005284,AK295250 NP_005275,CAI17125,EAW48331,AAA63181,AAA91631,AAH43414,AAI17299,AAI26302,P46095,BAG58241,ADR82964,ADR82970 Hs.46332 G-protein coupled receptor 6|sphingosine 1-phosphate receptor GPR6 protein-coding 1320923 GPR61 G protein-coupled receptor 61 This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq] 1580863 16710414,16344560,15615699,15489334,12477932,12044878,11690637,11165367,19025769,19834535 83873 NM_031936,AB083585,AL355145,AL355310,CH471122,AF258342,AF317652,AK290027,BC067464,BC095507,BX491451,DA176879,AB209096 NP_114142,BAB89298,CAI19302,EAW56392,AAK97826,AAK12637,BAF82716,AAH67464,Q59GL3,Q9BZJ8,BAD92333 Hs.709782 BALGR|GPCR3 biogenic amine receptor-like G-protein coupled receptor|biogenic amine receptor-like GPCR|probable G-protein coupled receptor 61 protein-coding 1351718 GPR62 G protein-coupled receptor 62 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 12477932,12044878,11165367 118442 AB083590,AC115284,AF317653,NM_080865,AB032600,AI951672,BC026357,CH471055 NP_543141,BAB89303,AAK12638,EAW65164,BAD83591,AAH26357,Q8TAM0,Q9BZJ7 Hs.232213 GPCR8|KPG_005|MGC26943 G-protein coupled receptor GPCR8|G-protein coupled receptor KPG_005|hGPCR8|probable G-protein coupled receptor 62 protein-coding 1315091 GPR63 G protein-coupled receptor 63 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 17474147,16344560,15489334,14574404,12618218,12477932,11165367,11027575,11027574 81491 NM_030784,NM_001143957,AF317654,AL033379,AL159985,CH471051,AB030566,AB209347,AK289839,AK313535,BC067465,BC067466,BC067467,BC067468,BC067469,DA242987,DB119067,FJ348260 NP_110411,NP_001137429,AAK12639,CAB55871,EAW48502,BAB20031,BAD92584,BAF82528,BAG36312,AAH67465,AAH67466,AAH67467,AAH67468,AAH67469,ACI96304,Q59FW2,Q6NWR7,Q6NWR8,Q6NWR9,Q9BZJ6 Hs.632612 PSP24(beta)|PSP24B OTTHUMP00000016881|PSP24-2|PSP24-beta|brain expressed G-protein-coupled receptor PSP24 beta|probable G-protein coupled receptor 63 protein-coding 735317 GPR64 G protein-coupled receptor 64 9150425,18029348,17081983,12477932,12420295,9739419 10149 NM_005756,NM_001079860,NM_001079858,AL732509,AL732578,CH471074,CS223389,AF538954,NM_001079859,AF539455,AF539456,AK090402,AK291012,AK309439,AY143364,AY143365,AY143366,AY143367,AY148343,BC063315,BC099901,BC113978,BC113979,X81892,NG_021304,NM_001184833,NM_001184834,NM_001184835,NM_001184836,NM_001184837 Q8IZP9,Q8NF77,Q499H0,NP_001073328,NP_005747,NP_001073329,NP_001073327,CAI41675,CAI41676,CAI41677,CAI41678,CAI41679,CAI40668,CAI40669,CAI40670,CAI40671,CAI40672,EAW98952,EAW98953,EAW98954,EAW98955,EAW98956,EAW98957,CAJ46934,AAN33056,AAN33064,AAN33065,BAC03383,BAF83701,AAN38971,AAN38972,AAN38973,AAN38974,AAN75702,AAH99901,AAI13979,AAI13980,CAA57479,Q14CE0,Q14CE1,NP_001171762,NP_001171763,NP_001171764,NP_001171765,NP_001171766 Hs.146978 EDDM6|FLJ00282|HE6|MGC104454|MGC138738|MGC138739|TM7LN2 G protein-coupled receptor, epididymis-specific (seven transmembrane family)|G-protein coupled receptor 64|OTTHUMP00000023009|OTTHUMP00000215233|epididymal protein 6|human epididymis-specific protein 6 protein-coding 1323495 GPR65 G protein-coupled receptor 65 9655242,19234222,15665078,15618224,15489334,15326175,15221007,12508121,12477932,11309421,20855608,21102463,16754659 8477 NM_003608,AL157955,CH471061,U95218,AK313797,BC035633,BC071715,EU883574 NP_003599,EAW81365,AAC31794,BAG36533,AAH35633,AAH71715,ACG60648,Q8IYL9,ABM81760,ABM84915 Hs.443243 TDAG8|hTDAG8 G-protein coupled receptor 65|T-cell death-associated gene 8 protein|psychosine receptor protein-coding 1319965 GPR68 G protein-coupled receptor 68 1580863 20237496,20622109,16754659,8661159,7498459,18302504,17728215,16087674,15665078,15489334,15146197,14567679,12955148,12477932,12069813,8889548,17207965 8111 NM_001177676,NM_003485,AL135818,CH471061,U48405,AY615372,BC067470,BC067471,BC067472,BC069592,BC096071,BC096072,BC096073,BC096074,BC098567,BC128536,BM723705,CN287036,U35398,EU883575 NP_001171147,NP_003476,EAW81447,EAW81448,AAC50596,AAT38917,AAH67470,AAH67471,AAH67472,AAH69592,AAH96071,AAH96072,AAH96073,AAH96074,AAH98567,AAI28537,ACG60649,AAA79060,Q15743,Q6NWR5,Q6NWR6,ADQ31978 Hs.8882 GPR12A|MGC111379|MGC156983|OGR1 G-protein coupled receptor 68|ovarian cancer G protein-coupled receptor, 1|ovarian cancer G-protein coupled receptor 1|sphingosylphosphorylcholine receptor protein-coding 1343209 GPR75 G protein-coupled receptor 75 GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM] 1580863 10381362,15815621,15489334,12477932 10936 NM_006794,AC008068,AF101472,CH471053,AF072693,AK314885,BC067475,BC067476,BC110915 NP_006785,AAY15018,AAD22770,EAX00162,AAD19849,BAG37399,AAH67475,AAH67476,O95800 Hs.720428,Hs.40763 GPRchr2|MGC132002|WI31133 probable G-protein coupled receptor 75 protein-coding 1354173 GPR77 G protein-coupled receptor 77 The anaphylatoxins C3a (see MIM 120700), C4a (see MIM 120810), and C5a are cationic fragments generated during the complement cascade that participate in host defense. In the case of inappropriate complement activation, anaphylatoxins may be involved in autoimmunity and sepsis. C5L2 is coexpressed with the C5a receptor, C5AR (C5R1; MIM 113995), on polymorphonuclear neutrophils and may modulate C5AR activity (Gerard et al., 2005 [PubMed 16204243]).[supplied by OMIM] 1580863 17158873,17068344,16204243,15833747,15634936,15489334,14570896,12540846,12477932,11773063,11165367,11090875,17322907,19100624,19615750,19767107,20044484 27202 NM_018485,AC008754,AC099491,AF317655,AY268430,CH471126,AB038237,AK313994,BC067477,BC067478,BC067479,BC067480,CS173027 NP_060955,AAK12640,AAP23197,EAW57472,CAJ33695,BAA95414,BAG36706,AAH67477,AAH67478,AAH67479,AAH67480,Q6NWQ8,Q6NWQ9,Q6NWR0,Q9P296 Hs.534412 C5L2|GPF77 C5a anaphylatoxin chemotactic receptor C5L2|G protein-coupled receptor C5L2|G-protein coupled receptor 77 protein-coding 1351563 GPR78 G protein-coupled receptor 78 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 17363172,19842229,19328558,16389273,15489334,12975309,12477932,11574155,10708769 27201 NM_080819,AB065673,AC105345,CH471131,AF411107,AK128807,AK307281,AK313038,AY359107,BC057778,BC069343,BC069813 NP_543009,BAC05898,EAW82336,AAL26479,BAG54739,BAG35871,AAQ89465,AAH57778,AAH69343,AAH69813,Q96P69 Hs.350588 G-protein coupled receptor 78 protein-coding 1350376 GPR79 G protein-coupled receptor 79 pseudogene 11574155 27200 NG_001272,AC092999,AF411108 pseudo 1316071 GPR81 G protein-coupled receptor 81 G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 19633298,15831516,19047060,18952058,15489334,15177553,12477932,12044878,11574155,19913121,20628086 27198 NM_032554,AB065866,AB083631,AC026333,AF411110,CH471054,DQ157221,AF345568,AF385431,AF385432,AK289557,AK313955,AY507143,BC066881,BC066882,BC066883,BC067484,BC095506,EU809458 ACT64401,ACT64402,NP_115943,BAC06084,BAB89344,AAL26481,EAW98337,AAZ67915,AAK29071,AAM43832,AAM43833,BAF82246,BAG36671,AAR92485,AAH66881,AAH66882,AAH66883,AAH67484,AAH95506,ACJ03844,Q9BXC0 Hs.610873,Hs.711001 FKSG80|GPR104|LACR1|TA-GPCR G protein-coupled receptor 104|G-protein coupled receptor 104|G-protein coupled receptor 81|T-cell activation G protein-coupled receptor|lactate receptor 1 protein-coding 1354119 GPR82 G protein-coupled receptor 82 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 15489334,12477932,12044878,11574155 27197 NM_080817,AB065935,AB083595,AF411111,AL627402,CH471141,AJ319076,AK122626,AK313702,AL832460,BC070180,NG_016566 NP_543007,BAC06150,BAB89308,AAL26482,CAH71243,EAW59395,CAC87490,BAG53628,BAG36448,AAH70180,Q5VT13,Q96P67 Hs.567457 probable G-protein coupled receptor 82 protein-coding 1352259 GPR83 G protein-coupled receptor 83 1580863 10760605,16785516,16344560,12477932,11060465,10819331,17207965,20200545 10888 NM_016540,AP000765,CH471065,AB040973,AF236081,AI914177,AK315161,BC067473,BC067474,BE670361,DA317535,EU432120,Y19228 NP_057624,EAW66929,CAC19039,BAA96064,AAF43705,BAG37605,AAH67473,AAH67474,ABY87919,Q6NWR3,Q9H011,Q9NYM4,ADQ32055 Hs.272385 GIR|GPR72 G protein-coupled receptor 72|G-protein coupled receptor 72|glucocorticoid induced receptor|probable G-protein coupled receptor 83 protein-coding 1323208 GPR84 G protein-coupled receptor 84 1331358,1580863 15489334,12477932,12044878,11404393,11273702,15342556,19460454 1331358 53831 NM_020370,AB083586,AC078778,CH471054,AF237762,AF282693,AK290394,BC020614,CR611934,FJ348261,BP303386,CD366881 NP_065103,BAB89299,EAW96776,AAK01857,AAF91467,BAF83083,AAH20614,ACI96305,Q9NQS5,ABM84143,ABM87545 Hs.306199 EX33|GPCR4 G-protein coupled receptor 84|inflammation-related G protein-coupled receptor EX33|inflammation-related G-protein coupled receptor EX33 protein-coding 736296 GPR85 G protein-coupled receptor 85 Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM] 70648 10833454,18951430,18413613,16381901,16344560,15893849,15489336,12853948,12477932,12408996,11256614,11230166,11076863,10978537,9847074 70648 54329 DA768938,DC305161,NM_018970,NM_001146265,NM_001146266,NM_001146267,AB065688,AC073346,CH236947,CH471070,AB040800,AF250237,AK297464,AK302769,AK309392,AK312587,AL161959,BC030577,CR609708,DA151528,DA483702,DA596250,CS382014,FB764506 P60893,Q8NEN2,CAL38405,CAL38430,NP_061843,NP_001139737,NP_001139738,NP_001139739,BAC05911,AAQ93365,EAL24372,EAW83476,BAA96646,AAF79956,BAG59886,BAG63977,BAG35481,CAB82307,AAH30577,CAL39131,CAV30661 Hs.152009 FLJ50993|FLJ51159|FLJ99433|SREB|SREB2 OTTHUMP00000211044|OTTHUMP00000211045|OTTHUMP00000211046|OTTHUMP00000211047|probable G-protein coupled receptor 85|seven transmembrane helix receptor|super conserved receptor expressed in brain 2 protein-coding 1317287 GPR87 G protein-coupled receptor 87 G protein-coupled receptors play a role in cell communication. They are characterized by an extracellular N terminus, 7 transmembrane regions, and an intracellular C terminus.[supplied by OMIM] 1331358 18183596,18057535,17905198,15489334,15342556,14702039,12477932,11273702,11574155,19602589,20424473 1331358 53836 NM_023915,AC024886,AC078816,CH471052,CQ859808,AB031548,AF086432,AF237763,AF345566,AF411114,AK027784,BC009540,BC112941,BC117565,BC132888,BC132890,BP226924,EU883576 NP_076404,EAW78808,CAH25954,BAD83583,AAK01858,AAK29069,AAL26485,BAB55366,AAH09540,AAI12942,AAI17566,AAI32889,AAI32891,ACG60650,Q9BY21,ADR82963 Hs.591292 FKSG78|GPR95|KPG_002|MGC131898 G protein-coupled receptor 95|G-protein coupled receptor 87|G-protein coupled receptor 95|orphan GPCR 87 protein-coding 735493 GPR88 G protein-coupled receptor 88 1580863 11056049,12477932,9373149,8125298 54112 NM_022049,AB042411,AC099670,AY336999,CH471097,AB042410,AF086060,AK225748,BC036775 NP_071332,BAB18248,AAQ76787,EAW72954,BAB18247,AAH36775,Q9GZN0,AAI72248 Hs.170053 STRG G protein coupled receptor 88|G-protein coupled receptor 88|probable G-protein coupled receptor 88|striatum-specific G-protein coupled receptor protein-coding 1642209 GPR89A G protein-coupled receptor 89A 12761501,16710414,15489334,14702039,12975309,12477932,11042152,10810093,9373149,8125298,18794847,19135895 653519 NM_001097612,AL390725,AX881564,BX511042,AB097024,AB097025,AF132947,AK001354,AK021758,AK094228,AK223223,AK297145,NM_001097613,AK299995,AK301939,AK316371,AY358966,BC003187,BC067816,BC146880,BT006679,DC349534,NR_036541,CR628408 NP_001091082,NP_001091081,CAI13712,CAE91312,CAI13224,BAC77377,BAC77378,AAD27722,BAG51045,BAD96943,BAG59645,BAG61815,BAG63359,BAH14742,AAQ89325,AAH03187,AAH67816,AAI46881,AAP35325,ABM84756,CAM28366,B7ZAQ6 Hs.559115,Hs.504320 FLJ10492|FLJ11696|FLJ36909|FLJ79270|GPR89B|MGC688|MGC87324|UNQ192 Golgi pH regulator A|protein GPR89|putative MAPK-activating protein PM01|putative NF-kappa-B-activating protein 90 protein-coding 1348396 GPR89B G protein-coupled receptor 89B 1580863 18794847,16710414,15489334,14702039,12975309,12761501,12477932,11042152,10810093,9373149,8125298 51463 NM_016334,AL445591,BX537254,AF151035,AL133020,CR590313,CR620581,CR625868,DC305701,U78723,AK302266 NP_057418,CAH72386,CAI18821,AAF36121,CAH56393,AAF21463,AAI56844,ABM81576,BAG63613,P0CG08 Hs.645432 FLJ55546|GPHR|GPR89|SH120 Golgi pH regulator A|Golgi pH regulator B|g protein-coupled receptor 89|protein GPR89|putative MAPK-activating protein PM01|putative NF-kappa-B-activating protein 90 protein-coding 1625469 GPR89C G protein-coupled receptor 89C 16710414 728932 NM_001097616,AL356004,CD102528 NP_001091085,CAI17085,A6NKF9 Hs.559115 Putative protein GPR89C|putative Golgi pH regulator C protein-coding 1346240 GPR89P G protein-coupled receptor 89 pseudogene 394254 NG_000934,AL009179 C11H1.2-Lp|SH120P pseudo 1344521 GPR90 G protein-coupled receptor 90 56669 1313843 GPR97 G protein-coupled receptor 97 1580863 14702039,15203201,15489334,15340161,12679517,12477932,12435584,222487,20424473 222487 NM_170776,AC018552,CH471092,AB049169,AK172801,AK301258,AK310124,AK310311,AY140959,AY255601,BC044222,BC064508,BE672513 NP_740746,EAW82946,BAC67700,BAD18774,BAG62824,AAN46673,AAO85113,AAH64508,Q86Y34 Hs.383403 PB99|PGR26 EGF-TM7-like|G-protein coupled receptor PGR26|probable G-protein coupled receptor 97 protein-coding 1318161 GPR98 G protein-coupled receptor 98 This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq] 1580863 11606593,10976914,15671307,12402266,14740321,16434480,15203201,19357117,18854872,18463160,17903296,16344560,15203218,14702039,12477932,12217514,12168954,11853319,11545713,11230166,10745043,10587582,9734811,10234513,7901420,19683999,19730683,20195266,20200978,20379614,19913121,20628086,20801516 84059 BI758469,BX493741,CD633594,DA503892,NR_003149,NG_007083,AC027323,AC034215,AC074132,AC093281,AC093529,AC094109,AC099512,CH471084,AB014586,AB075823,AF055084,AF435925,AK024416,AL133041,AL136541,BC034748,NM_032119 Q8WXG9,Q9UFD2,NP_115495,EAW95986,EAW95987,EAW95988,EAW95989,EAW95990,EAW95991,EAW95992,EAW95993,EAW95994,BAA31661,BAB85529,AAD55586,AAL30811,BAG51297,CAB61369,CAB66476 Hs.591777 DKFZp761P0710|FEB4|KIAA0686|MASS1|USH2B|USH2C|VLGR1|VLGR1b G-protein coupled receptor 98|monogenic audiogenic seizure susceptibility protein 1 homolog|monogenic, audiogenic seizure susceptibility 1 homolog|monogenic, audiogenic seizure susceptibility 1 homolog (mouse)|usher syndrome type-2C protein|very large G protein-coupled receptor 1|very large G-protein coupled receptor 1 protein-coding 1349786 GPRASP1 G protein-coupled receptor associated sorting protein 1 19237393,16344560,16049099,15772651,15489334,15452121,15086532,12477932,12142540,11274227,9455477,16169070,11597585,17197383,19615732,20468064,20394773 9737 NM_014710,NM_001099410,NM_001099411,AL035427,CH471190,AB007903,AW293629,AY044233,BC114552,BP193624,CR596060,DA094297,DA104338,DA222893,BX489726,BX954816,NG_021332,NM_001184727 NP_055525,NP_001092880,NP_001092881,CAB55683,EAW54730,BAA23715,AAK95578,AAI14553,Q5JY77,NP_001171656 Hs.522729 GASP|GASP-1|GASP1|KIAA0443 G-protein coupled receptor-associated sorting protein 1 protein-coding 1346303 GPRASP2 G protein-coupled receptor associated sorting protein 2 737633,1580863 15383276,16835690,16381901,15772651,15489336,15489334,15086532,14702039,12477932,11076863,16344560,19615732,20479760 737633 114928 NM_001004051,NM_138437,AL035427,CH471190,AA906216,AK092981,AK094646,AK096067,AK123832,AL832187,BC013576,BC036772,BC051707,BG719561,BX509838,AL522674,DA776293,DA231935,DA238794,DA333852,DA389655,NG_021322,NM_001184874,NM_001184875,NM_001184876 NP_001004051,NP_612446,CAI43060,EAW54727,EAW54728,EAW54729,BAG53967,AAH13576,AAH36772,Q96D09,CAL38493,NP_001171803,NP_001171804,NP_001171805 Hs.522729 FLJ35662|FLJ37327|GASP2 G-protein coupled receptor-associated sorting protein 2 protein-coding 1603705 GPRC5A G protein-coupled receptor, family C, group 5, member A This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq] 9857033,18029348,18000218,17055459,16565220,15951569,20563252,15659406,15489334,14706456,14702039,12477932,10945465,10783259,8832110,19279407,19552806 9052 NM_003979,AC007688,CH471094,AF095448,AF506289,AI587426,AK001761,AK122672,AK172760,AK291171,BC003665,CR597125,CR620367 NP_003970,EAW96289,AAC98506,AAM77594,BAA91890,BAG53657,BAF83860,AAH03665,Q8NFJ5 Hs.631733 GPCR5A|RAI3|RAIG1 G-protein coupled receptor family C group 5 member A|RAIG-1|orphan G-protein-coupling receptor PEIG-1|retinoic acid induced 3|retinoic acid responsive|retinoic acid-induced gene 1 protein|retinoic acid-induced protein 3 protein-coding 1319887 GPRC5B G protein-coupled receptor, family C, group 5, member B The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. [provided by RefSeq] 16303743,15489334,14702039,12477932,10945465,10783259,10493829,18029348,20424473,20935630 51704 NM_016235,AC004131,AC134300,CH471186,AF181862,AF202640,AJ276101,AK075119,AL137684,BC034467,CR591472,AK294680,AK295204,AK296754,AK302838,AK315989 NP_057319,AAC27544,EAW50302,EAW50303,EAW50304,EAW50305,AAF05331,AAF67321,CAC00632,BAC11414,AAH34467,Q9NZH0,ABM81777,ABM84932,BAH11846,BAH12012,BAH12426,BAH13817,BAH14360 Hs.148685 RAIG-2|RAIG2 A-69G12.1|G protein-coupled receptor, family C, group 1, member B|G-protein coupled receptor family C group 5 member B|retinoic acid responsive gene protein|retinoic acid-induced gene 2 protein protein-coding 1322855 GPRC5C G protein-coupled receptor, family C, group 5, member C The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10783259,14667819,16303743,15489334,14702039,12477932,11311935,10945465,9373149,8125298 55890 NM_018653,AC079325,CH471099,AB451470,AF207989,AJ276102,AK000249,AK075397,AK126429,AK131210,AK222909,BC004925,BC016860,BC069202,BC110848,NM_022036,BC125080,BC125081,BT007435,CR592340,CR595715,CR597806,CR622350,CS051199 NP_071319,NP_061123,EAW89160,EAW89161,EAW89162,EAW89163,EAW89164,BAG70284,AAF72870,CAC00633,BAA91030,BAC11595,BAG54752,AAH04925,AAH16860,AAI10849,AAI25081,AAI25082,AAP36103,Q9BSP0,Q9NQ84,Q9NXI0,ABM82557,ABM85747,CAI72095 Hs.446438 MGC131820|RAIG-3|RAIG3 G-protein coupled receptor family C group 5 member C|OTTHUMP00000070880|orphan G-protein coupled receptor|retinoic acid responsive gene protein|retinoic acid-induced gene 3 protein protein-coding 1344418 GPRC5D G protein-coupled receptor, family C, group 5, member D The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. 1580863 11311935,15489334,12477932,12044878,20424473 55507 BC107077,BC107078,AB083629,AC007688,CH471094,AB099817,AF209923,BC069341,NM_018654 AAI07078,AAI07079,Q9NZD1,NP_061124,BAB89342,EAW96294,BAC79169,AAF72873,AAH69341 Hs.644599 MGC129713|MGC129714 G-protein coupled receptor family C group 5 member D|orphan G-protein coupled receptor protein-coding 1352441 GPRC6A G protein-coupled receptor, family C, group 6, member A 19874200,16199532,15576628,15194188,14574404,12044878,11329013,20654748,20676098,17478059,16754659 222545 NM_148963,AB065680,AB083615,AL354716,CH471051,AF502962,AY435125,AY435126,AY435127,BG191110 NP_683766,BAC05904,BAB89328,CAI16922,EAW48214,AAM22230,AAS13465,AAS13466,AAS13467,Q5T6X5,AAI41420 Hs.266745 GPCR|bA86F4.3 G-protein coupled receptor GPCR33|G-protein coupled receptor family C group 6 member A|hGPCR33|hGPRC6A|predicted with SOSUI analysis|seven transmembrane helix receptor protein-coding 1606183 GPRIN1 G protein regulated inducer of neurite outgrowth 1 15488195,15302935,12477932,11572484,10480904,15489334 114787 NM_052899,AC091934,CH471195,AB067480,AL834165,BC052950 NP_443131,EAW85065,CAD38868,AAH52950,Q7Z2K8,BAB67786 Hs.150549 GRIN1|KIAA1893 G protein-regulated inducer of neurite outgrowth 1 protein-coding 1318969 GPRIN2 G protein regulated inducer of neurite outgrowth 2 16189514,15489334,15488195,15164054,12477932,10480904,9628581 9721 NM_014696,AL356056,AL645529,AB011086,BC011672 NP_055511,CAI14956,BAA25440,AAH11672,O60269 Hs.523375 GRIN2|KIAA0514|MGC15171 G protein-regulated inducer of neurite outgrowth 2|OTTHUMP00000019519 protein-coding 1604710 GPRIN3 GPRIN family member 3 15488195,14702039,12477932 285513 NM_198281,AC093862,AC105388,CH471057,AB095947,AK091461,AK124616,BC126371 NP_938022,EAX06032,EAX06033,BAC23123,BAC85902,AAI26372,A0AVI5,Q6ZVF9,ADR83257 Hs.605082 FLJ42625|GRIN3 G protein-regulated inducer of neurite outgrowth 3 protein-coding 732073 GPS1 G protein pathway suppressor 1 This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16036220,8943324,17353931,16964243,15489334,15304329,14702039,12732143,12628923,12477932,12324474,12220626,11337588,11285227,11114242,9535219,9373149,8125298,9707402,12615944,16169070,16949367,19615732 2873 NM_212492,NM_004127,AC135056,CH471099,AB209596,AK026610,AK093283,AK222508,AK225248,AK289435,AK297872,BC000155,BC064503,BG775520,BT009834,CR591155,CR600436,CR603984,CR604026,CR606254,CR608007,CR608545,CR610362,CR612542,CR617458,U20285 NP_997657,NP_004118,EAW89741,EAW89742,BAD92833,BAC04120,BAF82124,BAG60198,AAH00155,AAH64503,AAP88836,AAC50906,Q13098,Q59F65,ACE87569,ACE86882,ADR83311 Hs.268530 COPS1|CSN1|MGC71287 COP9 signalosome complex subunit 1|GPS-1|JAB1-containing signalosome subunit 1|SGN1|signalosome subunit 1 protein-coding 1317604 GPS2 G protein pathway suppressor 2 This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq] 1302232,1580863 8943324,16189514,18218630,17895379,16169070,17210713,16122992,15489334,15159402,14702039,12628926,12477932,11931768,11486030,11347906,11230166,11119584,10846067,9325311,14527417,17353931,19481530,19858209,19917673,20159957 1302232 2874 NM_004489,AC026954,AK301877,BC013652,BC014192,BC103901,BC103902,BC103903,BC107738,BT006998,CR541723,CR541750,CR604106,U28963 NP_004480,BAG63313,AAH13652,AAI03902,AAI03903,AAI03904,AAI07739,AAP35644,CAG46524,CAG46550,AAB60432,Q13227,Q3SY98,Q6FHM8 Hs.438219 AMF-1|MGC104294|MGC119287|MGC119288|MGC119289 G protein pathway suppressor 2|GPS-2|OTTHUMP00000128385|OTTHUMP00000163158 protein-coding 1348855 GPSM1 G-protein signaling modulator 1 (AGS3-like, C. elegans) G proteins propagate intracellular signals initiated by G protein-coupled receptors. GPSM1, a receptor-independent activator of G protein signaling, is one of several factors that influence the basal activity of G protein signaling systems (Pizzinat et al., 2001 [PubMed 11278352]).[supplied by OMIM] 1304224,1580863 20065032,20126274,20237496,18566450,17991770,16458856,16189514,15537540,15489334,14530282,12925752,12642577,12477932,11278352,11024022,10969064,12826607,20716524 1304224 26086 NG_028088,NM_001145638,NM_015597,NM_001145639,AL592301,BX649589,CH471090,AL117478,AY173053,BC009943,BC009979,BC017257,BC017353,BC048343,BI766024,BQ214873,BU631041,CR603710,AC174065,AL545250,NM_001200003 NP_001139110,NP_056412,NP_001139111,CAI19338,CAI19339,CAM27654,EAW88216,EAW88217,EAW88218,CAB55951,AAO17260,AAH09979,AAH17353,AAH48343,Q86YR5,NP_001186932 Hs.239370 AGS3|DKFZp727I051 1810037C22Rik|AGS3 homolog|G-protein signaling modulator 1 (AGS3-like, C. elegans)|G-protein signalling modulator 1 (AGS3-like, C. elegans)|G-protein-signaling modulator 1|OTTHUMP00000022584|OTTHUMP00000022585|OTTHUMP00000022586|activator of G-protein signaling 3 protein-coding 1351498 GPSM2 G-protein signaling modulator 2 (AGS3-like, C. elegans) Heterotrimeric G proteins transduce extracellular signals received by cell surface receptors into integrated cellular responses. GPSM2 belongs to a group of proteins that modulate activation of G proteins (Blumer et al., 2002 [PubMed 11832491]).[supplied by OMIM] 631949,1580863 12748287,12477932,11832491,11781568,20479129,15537540,8973305,16458856,15632202,15489334,12925752,18029348,20056645,20508983,20589935,20602914 631949 29899 NM_013296,AL449266,CH471122,AB445462,AI224972,AK295563,AK314249,AY136740,BC027732,CR456786,CR602234,DC341689,U54999,NG_028108 NP_037428,CAI14360,CAI14361,CAQ09802,CAQ09803,CAQ09804,EAW56340,EAW56341,EAW56342,EAW56343,EAW56344,BAH84760,BAG58463,BAG36915,AAN01266,AAH27732,CAG33067,AAB40385,P81274,Q5T1N9,ABM82955,ABM85856 Hs.584901,Hs.658489 DFNB82|LGN|PINS|Pins G-protein signaling modulator 2 (AGS3-like, C. elegans)|G-protein signalling modulator 2 (AGS3-like, C. elegans)|G-protein-signaling modulator 2|OTTHUMP00000013436|mosaic protein LGN protein-coding 1343729 GPSM3 G-protein signaling modulator 3 (AGS3-like, C. elegans) 1580863 17207965,2259622,14667819,15489334,15096500,14656218,14574404,12477932,19913121,20628086,20452976,19659809,19851445 63940 NM_022107,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89335,U89336,AF155657,AJ243937,AJ243938,AK313922,BC018724,CR604341,CR623296 ADQ32457,NP_071390,CAI17541,CAI18360,CAI41816,CAM26229,CAQ06601,EAX03617,EAX03620,EAX03623,CAQ10705,CAQ09630,AAC63096,AAB47489,AAF67476,CAB51287,CAB51288,CAB51289,BAG36643,AAH18724,P78548,Q9Y4H3,Q9Y4H4,Q9Y4H5 Hs.520046 AGS4|C6orf9|G18|G18.1a|G18.1b|G18.2|NG1 G-protein signaling modulator 3 (AGS3-like, C. elegans)|G-protein signalling modulator 3 (AGS3-like, C. elegans)|G-protein-signaling modulator 3|OTTHUMP00000029351|activator of G-protein signaling 4 protein-coding 734191 GPT glutamic-pyruvate transaminase (alanine aminotransferase) Glutamate-pyruvate transaminase (EC 2.6.1.2), also known as alanine aminotransferase, catalyzes the reversible conversion of L-alanine and alpha-ketoglutarate to L-glutamate and pyruvate. It has 2 distinct molecular and genetic forms: one cytoplasmic (soluble) (GPT1) and one mitochondrial (GPT2; MIM 138210). See ALTQTL1 (MIM 612363) and ALTQTL2 (MIM 612364) for information on quantitative trait loci influencing the plasma level of alanine aminotransferase.[supplied by OMIM] 1300048,1580863 20433554,9119391,1931970,19393479,19370784,19360321,19217453,19100265,19065605,19012630,18774966,18763311,18708042,18508279,18473412,18432999,18315552,18242760,18178283,18090161,17934148,17907318,17907292,17766001,17764776,17570354,17405346,17378732,17134955,16652026,15489334,15342556,15306699,14506613,12774006,12480555,12477932,12358155,11863375,9373149,8125298,5581908,20205615,17877759,19159884,19232448,19303161,19687577,19938201,20032584,20190678,20387481,3192219,49232,7114790,7114791,7361762,20872970 2875 AC084125,CH471162,EF444981,U70732,AI283141,AK225562,AK298488,AK303779,BC018207,BP275218,BT006992,D10355,NM_005309,HB901540,HC958949,NG_015828 NP_005300,EAW82077,EAW82078,EAW82079,ACA05996,AAC51155,BAG60697,BAG64738,AAH18207,AAP35638,BAA01186,P24298,CBF80470,CBU99504,ABM92213,ABM84690 Hs.103502 AAT1|ALT1|GPT1 GPT 1|alanine aminotransferase 1|glutamate pyruvate transaminase 1|glutamic--alanine transaminase 1|glutamic--pyruvic transaminase 1|glutamic-alanine transaminase 1 protein-coding 1313502 GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 GPT (MIM 138200) and GPT2 (EC 2.6.1.2), also known as alanine transaminases, are pyridoxal enzymes that catalyze the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. By mediating the conversion of these 4 major intermediate metabolites, these transaminases have roles in gluconeogenesis and in amino acid metabolism.[supplied by OMIM] 1580863 19360321,17596883,17109502,16344560,15616553,15489334,14702039,12477932,11863375,19615732,20877624 84706 NM_133443,NM_001142466,AC007225,AC018845,CH471092,AI990701,AK090957,AK094971,AL833351,AY029173,BC051364,BC062555,DA400677 NP_597700,NP_001135938,EAW82690,EAW82691,EAW82692,BAG52252,BAC04465,AAK31794,AAH62555,Q8TD30 Hs.460693 ALT2 GPT 2|alanine aminotransferase 2|glutamate pyruvate transaminase 2|glutamic--alanine transaminase 2|glutamic--pyruvic transaminase 2|glutamic-pyruvate transaminase 2 protein-coding 737005 GPX1 glutathione peroxidase 1 This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidase functions in the detoxification of hydrogen peroxide, and is one of the most important antioxidant enzymes in humans. This protein is one of only a few proteins known in higher vertebrates to contain selenocysteine, which occurs at the active site of glutathione peroxidase and is coded by UGA, that normally functions as a translation termination codon. In addition, this protein is characterized in a polyalanine sequence polymorphism in the N-terminal region, which includes three alleles with five, six or seven alanine (ALA) repeats in this sequence. The allele with five ALA repeats is significantly associated with breast cancer risk. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 2306609,2306608,2306610,2306611,2306161,2306607,2306624,2306606,2306616,2306612,1600704,1600708,1600662,1600671,1600677,1625122,1580863,1300048,1302578 12893824,12829378,8428933,12751788,17097614,12221075,16132718,16945136,12810669,19573080,19505917,19428448,19428376,19424819,19423521,19415410,19347979,19285650,19254950,19228881,19195803,19195504,19161995,19125369,19124506,19056482,19035188,19026164,19012493,18977241,18940188,18853169,18806750,18676680,18600213,18563616,18541588,18541150,18483336,18469277,18449862,18417962,18298806,18267129,18186040,17850515,17825092,17693525,17634480,17625244,17601350,17548672,17526193,17334644,17275003,17171548,17149600,17052796,16979635,16956821,16868544,16797832,16627788,16615267,16614101,16543247,16538174,16523188,16424062,16413612,16354666,16287877,16230136,15990458,15946795,15878749,15829318,15774926,15489334,15331559,15318035,15298967,15295091,15247771,15203190,15192016,15167446,15149466,15125229,14962975,14962293,14744747,14671197,14573732,12893830,12832449,12787913,12732844,12655278,12531513,12496980,12477932,12470500,12447480,11823528,11368344,11112379,11103801,10880344,10833429,10652368,10220143,9605859,9501919,9373149,9126277,8125298,8001233,3697069,3658677,2976939,2955287,2307470,1556108,16871233,15910762,20727719,20802378,20813000,20851292,20852007,20877264,20877624,20878976,21045266,21048031,21052528,21053180,21055077,21102463,20578157,20219985,20303587,19913121,20301895,20530237,20628086,20643115,20644561,20724907,19170196,19488773,19527700,19560448,19578796,19625176,19692168,19705749,19733578,19773279,19819955,19826042,19896490,19929244,19944066,19946932,20041472,20082261,20097730,20109103,20178852,20200426,20306294,20307617,20378690,20441054,20444272,20477822,20480816 2306609,2306608,2306610,2306611,2306161,2306607,2306624,2306606,2306616,2306612,1600704,1600708,1600662,1600671,1600677,1625122,1302578 2876 NM_201397,NM_000581,NG_012264,AC121247,AY327818,CH471055,M83094,Y00483,AK130160,AK225835,BC000742,BC007865,BC070258,CR595371,CR601795,CR614747,CR620255,CR626479,M21304,X13709,X13710,Y00433 NP_958799,NP_000572,AAP80181,EAW64976,EAW64977,AAA67540,CAB37833,AAH00742,AAH07865,AAH70258,AAA75389,CAA31992,CAA31993,CAA68491,P07203,Q6NSD4 Hs.76686 GSHPX1|MGC14399|MGC88245 GPx-1|GSHPx-1|OTTHUMP00000210766|cellular glutathione peroxidase|glutathione peroxidase 1 protein-coding 1345750 GPX2 glutathione peroxidase 2 (gastrointestinal) This gene is a member of the glutathione peroxidase family and encodes a selenium-dependent glutathione peroxidase that is one of two isoenzymes responsible for the majority of the glutathione-dependent hydrogen peroxide-reducing activity in the epithelium of the gastrointestinal tract. Studies in knockout mice indicate that mRNA expression levels respond to luminal microflora, suggesting a role of the ileal glutathione peroxidases in preventing inflammation in the GI tract. [provided by RefSeq] 1580863 8428933,19161995,19047153,18676680,18483336,18479189,18056462,17937616,17277236,16794261,16446369,15923610,15489334,12751789,12674495,12477932,11811519,11373322,11368344,10806356,10652368,9501919,9373149,8833155,8287691,8125298,2388849,15910762,20813000,19913121,20628086,19170196,19573080,19625176,19692168,19773279,20200426 2877 NM_002083,AF199441,AL139022,AY785560,CH471061,X91863,AK225871,BC005277,BC016756,BC022820,BC039850,BC046164,BC067221,X53463,X68314 NP_002074,AAF74026,AAV31780,EAW80889,EAW80890,EAW80891,EAW80892,AAH05277,AAH16756,AAH22820,AAH67221,CAB43534,CAA48394,P18283 Hs.2704 GI-GPx|GPRP|GSHPX-GI|GSHPx-2 GPRP-2|GPx-2|GPx-GI|gastrointestinal glutathione peroxidase 2|glutathione peroxidase 2|glutathione peroxidase-gastrointestinal|glutathione peroxidase-related protein 2 protein-coding 1343858 GPX3 glutathione peroxidase 3 (plasma) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq] 2312629,2312621,2312626,2312635,1580863,2307430,2312631,2312632,2312633,2312634 1897960,3693360,2491950,8056346,19375609,19161995,19020706,18936159,18676680,18483336,18096833,17937619,17804715,17122425,16937131,16229808,15489334,15375613,15096516,12732844,12674495,12553559,12477932,11983108,11934214,11368344,11149894,10970826,10652368,9501919,8287691,8262911,3619451,2229017,1339300,15910762,20303587,19913121,20485444,20576521,20628086,20712757,19170196,19573080,19625176,19692168,19766714,19773279,20043075,20200426,20813000,20946167 2312629,2312621,2312626,2312635,2307430,2312631,2312632,2312633,2312634 2878 NM_002084,AC008641,AY310878,CH471062,D16360,D16361,D16362,AF217787,AK310242,AL036834,BC013218,BC013601,BC025956,BC035841,BC050378,BC066949,BI522602,CR590253,CR590594,CR591081,CR591367,CR591549,CR591707,CR591749,CR592896,CR593150,CR594135,CR620123,CR621207,CR621477,CR621904,CR622704,CR623260,CR623261,CR623599,CR623606,CR623805,CR623984,CR623985,CR624624,CR624695,CR625290,CR625755,CR626765,D00632,X58295,CR594536,CR596498,CR596721,CR597297,CR597434,CR597736,CR598094,CR598624,CR598855,CR599318,CR599488,CR599527,CR599819,CR600420,CR601235,CR601731,CR601895,CR602168,CR603874,CR605862,CR606740,CR607596,CR608662,CR609961,CR610586,CR612204,CR612224,CR612826,CR613209,CR613346,CR613980,CR614185,CR615321,CR615361,CR615751,CR615956,CR615996,CR616153,CR617470,CR617790,CR618599,CR618652,CR619761 NP_002075,AAP50261,EAW61692,EAW61693,BAA03862,BAA03863,BAA03864,AAF43005,AAH13601,AAH35841,AAH50378,AAH66949,BAA00525,CAA41228,P22352,Q6NXQ3 Hs.386793 GPx-P|GSHPx-3|GSHPx-P GPx-3|extracellular glutathione peroxidase|glutathione peroxidase 3|plasma glutathione peroxidase protein-coding 736049 GPX4 glutathione peroxidase 4 (phospholipid hydroperoxidase) Glutathione peroxidase catalyzes the reduction of hydrogen peroxide, organic hydroperoxide, and lipid peroxides by reduced glutathione and functions in the protection of cells against oxidative damage. Human plasma glutathione peroxidase has been shown to be a selenium-containing enzyme and the UGA codon is translated into a selenocysteine. Through alternative splicing and transcription initiation, rat produces proteins that localize to the nucleus, mitochondrion, and cytoplasm. In humans, experimental evidence for alternative splicing exists; alternative transcription initiation and the cleavage sites of the mitochondrial and nuclear transit peptides need to be experimentally verified. [provided by RefSeq] 1300048,1302561,1580863 19913121,20485444,20628086,20628624,9705830,8039723,19285650,19161995,19124506,18977241,18676680,18636124,18483336,18400727,17634480,17630701,17601350,17516241,17052796,17020817,16979635,16872467,16868544,20813000,20852007,20877624,21052528,16424062,16341674,15978628,15489334,15474074,15308634,15256721,15225122,15149466,15057824,14642406,12958179,12868489,12732844,12606444,12490284,12477932,12427732,12193409,12152199,11368344,10652368,10464096,9501919,9373149,8889548,8287691,8125298,15910762,20303587,19170196,19524426,19573080,19615732,19625176,19692168,19744930,19773279,20378690,20379614,20477822 1302561 2879 NM_002085,NM_001039848,AC004151,NM_001039847,AC005390,AF060972,AY324108,CH471139,AK225859,BC010157,BC011836,BC021567,BC022071,BC032695,BC039849,BC046163,BC058329,BM764133,BQ648717,CF127510,CR591093,CR595286,CR608332,CR617590,CR618930,CR619467,X71973 NP_001034936,NP_002076,NP_001034937,AAC03239,AAC28920,AAC32261,AAP72965,EAW69543,EAW69544,EAW69545,EAW69546,AAH10157,AAH11836,AAH21567,AAH22071,AAH32695,AAH39849,AAH46163,CAA50793,P36969,Q6PI42,Q6PJX4 Hs.433951 MCSP|PHGPx|snGPx|snPHGPx GPx-4|GSHPx-4|glutathione peroxidase 4|phospholipid hydroperoxidase|phospholipid hydroperoxide glutathione peroxidase, mitochondrial|sperm nucleus glutathione peroxidase protein-coding 1352844 GPX5 glutathione peroxidase 5 (epididymal androgen-related protein) This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike mRNAs for other characterized glutathione peroxidases, this mRNA does not contain a selenocysteine (UGA) codon. Thus, the encoded protein is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 19913121,20628086,9639555,16344560,14702039,14574404,12477932,12211066,11368344,11076863,10652368,9783843,9501919,9110319,1386734,15910762,20200426 2880 NM_001509,NM_003996,AL049543,AY882013,CH471081,AJ005277,AK093099,BC128159,BC128160,BX103177,DB336279 NP_001500,NP_003987,CAB71121,AAW56939,EAX03168,EAX03169,CAA06463,BAG52653,AAI28160,AAI28161,O75715,AAI11376 Hs.248129 EGLP|GPx-5|GSHPx-5|epididymal androgen-related protein|epididymal secretory glutathione peroxidase|epididymis-specific glutathione peroxidase-like protein protein-coding 735998 GPX6 glutathione peroxidase 6 (olfactory) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Expression of this gene is restricted to embryos and adult olfactory epithelium. [provided by RefSeq] 1580863 19913121,20628086,10652368,12775843,11368344,9501919,15910762,12477932,20200426 257202 NM_182701,AL049543,CH471081,AY324826,BC133691,BC148315 NP_874360,EAX03167,AAP85543,AAI33692,P59796,ABM81789 Hs.448570 GPX5p|GPXP3|GPx-6|GSHPx-6|dJ1186N24|dJ1186N24.1 glutathione peroxidase 6|glutathione peroxidase pseudogene 3 protein-coding 1315932 GPX7 glutathione peroxidase 7 19913121,20628086,16713569,16710414,16189514,15489334,15294905,14702039,12975309,12477932,10652368,9501919,15910762,11368344,20819778,20200426 2882 NM_015696,AL356976,CH471059,DQ096732,AF091092,AF320068,AK027683,AY358402,BC032788,BI550170,BU627166,CR602700,CR621624 NP_056511,CAI22476,EAX06777,AAY88741,AAC72961,AAN76501,BAB55294,AAQ88768,AAH32788,Q96SL4,ABM84944 Hs.43728 CL683|FLJ14777|GPX6|GPx-7|GSHPx-7|NPGPx glutathione peroxidase 6|glutathione peroxidase 7|non-selenocysteine containing phospholipid hydroperoxide glutathione peroxidase protein-coding 1603792 GPX8 glutathione peroxidase 8 (putative) 18498225,14702039,12975309,12477932,17207965 493869 NM_001008397,AC091977,CH471123,AK022110,AK074216,AK298545,AK307365,AY358715,BC029424,BX537894,BX647770,CR620005,CR623605 NP_001008398,EAW54908,EAW54909,BAB85019,BAG60742,AAQ89077,AAH29424,Q8TED1,ADQ32216 Hs.289044 UNQ847 EPLA847|GPx-8|GSHPx-8|OTTHUMP00000222386|probable glutathione peroxidase 8 protein-coding 1352560 GPXP1 glutathione peroxidase pseudogene 1 2883 1343113 GPXP2 glutathione peroxidase pseudogene 2 10830953,1487153 2884 NG_001134,AP001603,M93083 GPXL1|GPXL2|GPXP2|GPXP2P pseudo 1347107 GPXP3 glutathione peroxidase pseudogene 3 394215 1322253 GRAMD1A GRAM domain containing 1A 737633 18029348,16303743,14702039,12477932,10819331 737633 57655 NM_020895,NM_001136199,AC020907,AB040966,AK026064,AK074827,AK074864,AK074914,AK097215,BC014077,BC041618,CR601407,CR612061,CR617236 NP_065946,NP_001129671,BAA96057,BAG52019,BAC11289,BAG53435,AAH14077,Q96CP6 Hs.515351 FLJ22411|FLJ90346|KIAA1533 GRAM domain-containing protein 1A protein-coding 1606522 GRAMD1B GRAM domain containing 1B 20731705,18758461,12975309,12477932,12107411,10574462,20332261 57476 BC063616,NM_020716,AP000841,AP002765,AB033027,AI815988,AK127457,AK297606,AK307795,AY358924,BC011969,BC035131,BC040970,BC105741,BC105931,BC105932,BC107480,BQ636364 NP_065767,BAA86515,BAG54507,BAH12625,AAQ89283,AAI05742,AAI05932,AAI05933,AAI07481,Q3KR37 Hs.144725 KIAA1201|MGC125622|MGC125623|MGC125625 GRAM domain-containing protein 1B protein-coding 1606791 GRAMD1C GRAM domain containing 1C 14702039,12975309,12477932 54762 NM_017577,AC079944,AC128687,CH471052,AK093181,AK097783,AK292846,AK292964,AK293884,AK304142,AL133661,AY358725,BC028972,BC035040,BX648633,CV575069,DC416411,NM_001172105 NP_060047,EAW79621,EAW79622,EAW79623,EAW79624,BAG52669,BAG53527,BAF85535,BAF85653,BAG57273,BAH14115,CAB63774,AAQ89087,AAH28972,AAH35040,CAH10770,Q8IYS0,NP_001165576 Hs.24583 DKFZp434C0328|DKFZp686K06117|FLJ35862|FLJ40464 GRAM domain-containing protein 1C|OTTHUMP00000214932 protein-coding 1605266 GRAMD2 GRAM domain containing 2 16344560,14702039,12477932,8889548 196996 NM_001012642,AC020779,CH471082,AK002016,AK095072,AK096501,AK303724,BC008057,BC024783,BC038451,BM663624,DA854662 NP_001012660,EAW77882,EAW77883,BAG52980,BAG64700,AAH38451,Q8IUY3,AAI60185 Hs.596332,Hs.706272 GRAM domain-containing protein 2 protein-coding 1604604 GRAMD3 GRAM domain containing 3 17081983,15489334,14702039,12477932,9373149,8125298,17207965,20379614 65983 NM_023927,NM_001146319,NM_001146320,NM_001146321,NM_001146322,AC008546,AC093535,CH471086,AK024966,AK225829,AK293307,AK294656,AK296267,AK298009,AK298349,AK300154,AK303857,AK316288,AL157454,AL583910,AY116970,BC008590,CR592715,DC371647,DC413835,DC424558 NP_076416,NP_001139791,NP_001139792,NP_001139793,NP_001139794,EAW48852,EAW48853,EAW48854,EAW48855,BAB15045,BAH11488,BAH11836,BAH12297,BAH12704,BAH12763,BAH13224,BAH14068,BAH14659,CAC29494,AAM77213,AAH08590,Q96HH9,Q9BYJ8,ADQ32738 Hs.363558 FLJ21313|NS3TP2 GRAM domain-containing protein 3|HCV NS3-transactivated protein 2|OTTHUMP00000223032|OTTHUMP00000223033|OTTHUMP00000223036|OTTHUMP00000223037|hepatitis C virus nonstructural protein 3-transactivating protein 2 protein-coding 1604385 GRAMD4 GRAM domain containing 4 20379614,15565177,15461802,12477932,11937641,9872452 23151 HI573874,R39786,AL021392,NM_015124,AL096766,CH471138,AB018310,AI399959,AL137628,BC011984,BC063558,BC080189,BC129837,CR456470 CBX47426,CAI20966,NP_055939,CAI18820,EAW73432,EAW73433,EAW73434,EAW73435,EAW73436,EAW73437,BAA34487,AAH80189,AAI29838,CAG30356,Q6IC98 Hs.475150 DIP|KIAA0767|MGC149847|MGC90497|dA59H18.1|dJ439F8.1 GRAM domain-containing protein 4|OTTHUMP00000197288|death-inducing protein|death-inducing-protein protein-coding 1353606 GRAP GRB2-related adaptor protein This gene encodes a member of the GRB2/Sem5/Drk family. This member functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. [provided by RefSeq] 1580863 8647802,18295596,15489334,15174222,12819203,12491092,12477932,11741599,9489702,9484780,8995379,10391903,12186560,19836472 10750 NM_006613,AC003957,AC007952,BC035856,BC063035,BQ056077,BT019981,CR541941,CR541966,CR595033,CR600595,CR615744,CR624975,U52518 NP_006604,AAH35856,AAH63035,AAV38784,CAG46739,CAG46764,AAC50541,Q13588 Hs.567416 MGC64880 GRB2-related adapter protein|OTTHUMP00000065766|growth factor receptor-bound protein 2-related adaptor protein protein-coding 1316895 GRAP2 GRB2-related adaptor protein 2 This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq] 1580863 9878555,12359715,11048639,11607830,17652306,18029348,19027225,17235283,16818765,16730941,16189514,15489334,15461802,15144186,15063762,12917638,12554803,12522270,12496419,12487779,12477932,12084069,12062812,11997510,11741599,11641407,11313918,10820259,10224278,10209041,10021361,9872323,9857184,15696170,10801854,10591208,18295596,10811803,12176364,12773374,15100220,19817957,20079431,20237496,20379614 9402 NM_004810,CH471095,Z82206,AF042380,AF090456,AF102694,AF121002,AF129476,AF236119,AF236120,AJ011736,AK303280,AK303332,AK303470,AK303512,AK303657,AK312830,AY069959,BC025692,BC026002,CR456498,CR536524,CR541849,CR604186,Y18051 NP_004801,EAW60356,EAW60357,EAW60358,EAW60359,EAW60360,EAW60361,CAI42713,CAQ07277,AAC69273,AAD13027,AAD04926,AAF31758,AAD41782,AAF60319,AAF60320,CAA09757,BAH13929,BAH13944,BAH13969,BAH13978,BAH14008,BAG35685,AAL58573,AAH25692,AAH26002,CAG30384,CAG38761,CAG46647,CAA77021,O75791,Q6FHA6,Q6FI14,CAK54526,CAK54825,ABM84070,ABM87430 Hs.517499 GADS|GRAP-2|GRB2L|GRBLG|GRID|GRPL|GrbX|Grf40|Mona|P38 GRB-2-like protein|GRB2-related adapter protein 2|GRB2-related protein with insert domain|SH3-SH2-SH3 adapter Mona|SH3-SH2-SH3 adaptor molecule|adapter protein GRID|grf-40|grf40 adapter protein|growth factor receptor-binding protein|growth factor receptor-bound protein 2-related adaptor protein 2|hematopoietic cell-associated adapter protein GrpL|hematopoietic cell-associated adaptor protein GRPL protein-coding 3255320 GRAPL GRB2-related adaptor protein-like 12477932 400581 AC007952,BC026233,BC060883,BC157869,NM_001129778 AAH26233,AAI57870,NP_001123250,Q8TC17 Hs.661470,Hs.677674 GRB2-related adapter protein LOC400581|GRB2-related adapter protein-like protein-coding 733545 GRASP GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 1580863 17396155,15489334,12586822,12477932,11850456,10828067,9828130,20016009 160622 NM_181711,AC025259,CH471111,AJ227899,BC035500,BC052967,BC053666,CR591341,HC025810 NP_859062,EAW58220,EAW58221,AAH35500,AAH52967,AAH53666,Q7Z6J2,CBH19836 Hs.407202 TAMALIN GRP1-associated scaffold protein|general receptor for phosphoinositides 1-associated scaffold protein|grp1 (general receptor for phosphoinositides)-associated scaffold protein protein-coding 1602534 GRASPOS GRP1-associated scaffold protein opposite strand 12477932 692159 BC028005 Hs.621295 protein-coding 1352618 GRB10 growth factor receptor-bound protein 10 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1625124,1580863 9006901,15664450,8798570,17474147,17846126,17376403,16964243,16644667,16434550,16344560,15952796,15870923,15722337,15506681,15489334,15060076,14702039,12853948,12771153,12697834,12551896,12493740,12477932,11812778,11809791,11527390,11494124,10871840,10861285,10856193,10585452,10454568,9881709,9847074,9753425,9747873,9632636,9553107,9506989,9360986,9070953,9039502,20174874,8798417,8764099,8621530,8403458,7665556,7479769,1633648,8776723,12421765,10446181,11223174,11551902,12853971,19487367,19648926 1625124 2887 HC025764,NM_001001549,NM_005311,NM_001001550,NG_012305,AC004920,AC005153,AC007089,AC080092,AF073363,AF073364,AF073365,AF073366,AF073367,AF073368,AF073369,AF073370,AF073371,AF073372,AF073373,AF073374,AF073375,AF073376,AF073377,AF073378,CH236955,CH471128,AB000731,AF000017,AF000018,AF001534,AI360831,AJ271366,AK021643,AK289511,BC024285,NM_001001555,BQ006601,BU598359,BX649028,CR624299,CX757289,D86962,DA634556,U34355,U66065,U69276 CBH19814,NP_001001555,NP_001001549,NP_005302,NP_001001550,AAS00377,AAS07426,AAC83655,AAC83654,EAL23897,EAW60964,EAW60965,EAW60966,EAW60967,EAW60968,BAF76353,AAC19748,AAC19749,AAB81134,CAB96542,BAF82200,AAH24285,BAA13198,AAA88819,AAC50671,AAB08431,O00428,Q13322,Q75M93,Q75MT1,ABM82626,ABM87845 Hs.164060 GRB-IR|Grb-10|IRBP|KIAA0207|MEG1|RSS GRB10 adapter protein|GRB10 adaptor protein|OTTHUMP00000197988|OTTHUMP00000197989|OTTHUMP00000197990|OTTHUMP00000197991|OTTHUMP00000197993|OTTHUMP00000197994|growth factor receptor-bound protein 10|insulin receptor-binding protein Grb-IR|maternally expressed gene 1 protein-coding 732013 GRB14 growth factor receptor-bound protein 14 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Transcript variants have been reported for this gene, but their full-length natures have not been determined to date. 61620,1625124,1580863 20339536,8647858,16849634,16246733,15489334,15372466,15322292,15210700,12477932,12242277,11726652,11607834,11278563,11235915,10713090,10521483,9748281,8812444,12853971,16582879,19268276,19359342,19648926,20379614,20935629,20932831 61620,1625124 2888 NM_004490,AC107075,AC110086,CH471058,AK074599,AK307744,AK309590,AK313153,BC053559,CR612679,L76687,AK301961,AK302129 ACE86896,NP_004481,AAY14768,AAY24176,EAX11342,EAX11343,BAG35971,AAH53559,AAC15861,Q14449,Q53QM9,Q53QQ0,BAH13595,BAH13632 Hs.411881 GRB14 adapter protein|OTTHUMP00000204702|growth factor receptor bound protein 14|growth factor receptor-bound protein 14 2314777 GLUCO106_H protein-coding 732473 GRB2 growth factor receptor-bound protein 2 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1642762,2299174,1302563,1302565,1299201,1581313,1300048,2317988 19913121,20628086,11882361,11877424,11827484,11741929,11741599,11739737,11733534,11923305,11897833,11726515,11711534,11707405,11707404,11606575,11571277,11551923,11551227,11546790,11533253,11527382,11509578,11483358,11466354,11439336,11433379,11432792,11384839,11371563,11352655,11314042,11292345,11278754,11278583,11173924,11157975,11152963,11133830,11127814,11094073,11071869,11063574,10982817,10973965,10970810,10942756,10940929,10940627,10903901,10900203,10899172,10820378,10790433,10781592,10781580,10748052,10747847,10706702,10660596,10636929,10602027,10559276,10521483,10490839,10488157,10477741,10469124,10467411,10455176,10395476,10377264,10359574,10354709,10339567,10330178,10329689,10319320,10318918,10224664,10090780,10087612,10086340,10080542,10077576,10068651,10051406,10022833,10022120,9927207,9891069,9891051,9856458,9852124,9846481,9843378,9830057,9824671,9788432,9733714,9722576,9716598,9705962,9697839,9694876,9670936,9668219,9660791,9660480,9642078,9632781,9632636,9590294,9569023,9553137,9544989,9516488,9507006,9489702,9484780,9480847,9422736,9395447,9393871,9388224,9380408,9368064,9346925,9344857,9341187,9307968,9299436,9295052,9281317,9233773,9182757,9178913,9178909,9178760,9171350,9135065,9108392,9079622,9062191,9050991,9045692,9045636,8253073,12577067,8388384,11520933,1322798,7739560,8479541,8493579,8621719,8810325,9356464,9690470,10567358,9038219,9019171,9016807,9013873,9009162,8995445,8994038,8986819,8955163,8943348,8918464,8887653,8816480,8798570,8794768,8780727,8723348,8702859,8700507,8695800,8670803,8670205,8663276,8662998,8662907,8662889,8662748,8649391,8649368,8647288,8633037,8631894,8630373,8621483,8585965,8585605,8576157,8570203,8547634,8536716,8491186,8262059,8188688,8178156,8119878,8112292,8063801,8041791,8022809,7997267,7982917,7970715,7935391,7929073,7881903,7809090,7806216,7806213,7799925,7798267,7759531,7744812,7737969,7737275,7716522,10648629,10734310,10913131,11606067,11823423,11894095,14560030,14665621,15574420,14722116,19323566,19289468,19273609,18789888,18778683,18660489,18467332,18425376,18420583,18307981,18258597,18231572,18192688,18003605,17991782,17849173,17689925,17616655,17466257,17081983,16955467,16906159,16818765,16760435,16730941,16729043,16407827,16382132,16344560,16339550,16298995,16249387,16038803,15879090,15688026,15635092,15556869,15546961,15489334,15467741,15368963,15326489,15314156,15187135,15182856,15173068,15122321,14702039,14679214,14667819,13129930,12852788,12748278,12730204,12624098,12531430,12529371,12522133,12514734,12486104,12485888,12477932,12441060,12424224,12402043,12400011,12399475,12388170,12359715,12345679,12242309,12242006,12220636,12186904,12171928,12162872,12149229,12112020,12023017,12007418,12006650,11997436,11997181,11964172,11960376,10386953,7706237,7675451,7675449,7664271,7642542,7629168,7629138,7559579,7556090,7544353,7535773,7534299,7527043,7524086,7518772,7511210,7510700,7500025,7488107,7488076,7486658,7478529,1384039,917890,11006130,10906142,16436505,17904548,8647802,17971399,10085134,10026169,8647858,18273061,10570290,10204582,9872323,9461587,9367879,9174058,8083187,17974561,9407116,7926767,9614102,15143164,10887132,9747873,7529874,11505033,11302736,9126968,9083103,8662733,8294403,8195171,7514169,11279207,9428629,11287610,11827972,10921882,11449366,12186560,11368773,10092678,11782427,10391903,8805332,10747947,10716926,10207103,9344843,10212213,9362449,8995399,8632004,8940134,12558988,12005431,10806474,10085298,8649427,10224278,8985255,12173038,8900182,8183561,7665556,7512734,8596638,9710588,7797522,11431473,9742218,11394904,10822386,12615911,8657152,10748054,7862111,15735675,9047383,9148935,12470648,11053437,15782189,10571082,9374537,11878897,15782196,7597091,10891441,8939605,7515480,8084588,8305738,21048031,20596655,20936779,7523381,8195176,10206341,10871282,10980613,11278465,11353842,12006576,14725908,14968112,14985334,14993658,15558030,15784897,15834155,16103119,16219545,16374509,16696976,16799092,16899217,16938345,16966330,17276458,17409413,17474147,18624398,19172738,19337752,19523899,19615732,19668218,19682241,19716163,19735729,19805522,19914172,19924227,20005866,20124721,20379614,20468064,7518560,9032261,9632734,20554525 1642762,2299174,1302563,1302565,1299201,1581313,2317988 2885 NM_002086,AC011933,AF063618,CH471099,AA452034,AF171699,AF246238,AF302079,AF498925,AK024539,AK091010,AK315565,BC000631,BC009417,BC019082,BC033644,BC039827,BC043007,BI459414,BQ073225,BQ962129,CR450363,CR541942,DA458680,L29511,M96995,X62852,NM_203506,EU332843 NP_987102,NP_002077,AAC72075,EAW89270,EAW89271,EAW89272,AAQ13606,AAG44485,AAG27442,AAM21073,BAB14923,BAG52262,BAG37940,AAH00631,CAG29359,CAG46740,AAC37549,AAA58448,CAA44664,P62993,Q6ICN0,ABM82756,ABM85849,ABY87532 Hs.444356,Hs.708119 ASH|EGFRBP-GRB2|Grb3-3|MST084|MSTP084|NCKAP2 HT027|OTTHUMP00000166097|OTTHUMP00000166098|SH2/SH3 adapter GRB2|abundant SRC homology|adapter protein GRB2|epidermal growth factor receptor-binding protein GRB2|growth factor receptor bound protein 2|growth factor receptor-bound protein 2|growth factor receptor-bound protein 3|protein Ash 2289580,2289581,2289583 BW461_H,BW460_H,BW462_H protein-coding 733273 GRB7 growth factor receptor-bound protein 7 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Alternative splicing results in multiple transcript variants encoding different isoforms, although the full-length natures of only two of the variants have been determined to date. [provided by RefSeq] 1580863 9710451,10664463,15806159,19124506,17916906,17705331,17634422,17426702,17117180,16595785,16354586,15930003,15841400,15489334,15470489,15010812,14702039,14585167,12975581,12853971,12852788,12477932,12061724,12021278,11897833,11809769,11607834,11075810,10893408,10803466,10521483,10446223,10377264,9516479,9373149,9360986,9125150,9079677,8988034,8940081,8631863,8125298,1409582,15778465,20388850,12223469,14968112,19473962,19648926,19717535,20370637,20126311,20622016 2886 NM_005310,NM_001030002,AC079199,AF274875,CH471152,AB008789,AB008790,AK027729,AK125544,AK222849,AK222870,AK290115,AK294620,AK314368,BC006535,BE247550,BT006686,CR590154,D43772,D87513 NP_005301,NP_001025173,AAG25938,EAW60600,EAW60601,BAA29059,BAA29060,BAG51372,BAG54211,BAD96569,BAD96590,BAF82804,BAG57803,BAG36998,AAH06535,AAP35332,BAA07827,BAA13412,Q14451,Q53YD3,ABM84787,ABW03622 Hs.86859 B47|GRB7 adapter protein|OTTHUMP00000164351|epidermal growth factor receptor GRB-7|growth factor receptor binding protein grb7|growth factor receptor-bound protein 7 protein-coding 1605705 GREB1 GREB1 protein This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 17666587,17463000,16496412,15986123,15001666,14702039,12477932,11103799,9628581,19240061,18794456,19842031 9687 NM_148903,NM_033090,AC011994,AC110754,CH471053,AB011147,AF245388,AF245389,AF245390,AK056886,BC034455,BC054502,BC071853,NM_014668 AAI72757,NP_055483,NP_683701,NP_149081,AAX88907,EAX00925,EAX00926,EAX00927,EAX00928,EAX00929,EAX00930,BAA25501,AAG39036,AAG39037,AAG39038,AAH54502,AAH71853,Q4ZG55,Q6IPM5 Hs.467733 KIAA0575 OTTHUMP00000180581|gene regulated by estrogen in breast cancer protein|gene regulated in breast cancer 1 protein|protein GREB1 protein-coding 1346462 GREM1 gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis) This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. [provided by RefSeq] 632526,1580863 20659471,16545136,9660951,18545679,18469115,18314105,17980714,17975199,17403698,17015616,17003113,16606614,16234815,15957132,15539560,15528323,15489334,15340161,14702039,12885271,12808456,12477932,12135612,10894942,10744662,10026205,17207965,20660291,20610440,15064755,16816361,19031438,19453261,19505925,19577778,19597895,20023658,20042676,20150533 632526 26585 NM_013372,AB032372,AC090877,CH471125,DQ100070,AF045800,AF110137,AF154054,AK095741,AK095890,AK095972,AK312265,AL359059,AL359060,AY232290,BC069525,BC093778,BC101611,NM_001191322,NM_001191323,W19275 NP_037504,BAA84462,EAW92267,EAW92268,EAW92269,AAZ29612,AAC39725,AAF06677,AAG23891,BAC04643,BAG53181,BAG35196,AAP69985,AAH69525,AAH93778,AAI01612,O60565,ADQ32880,NP_001178251,NP_001178252 Hs.726775,Hs.40098 CKTSF1B1|DAND2|DRM|GREMLIN|IHG-2|MGC126660|PIG2 DAN domain family member 2|cell proliferation-inducing gene 2 protein|cysteine knot superfamily 1, BMP antagonist 1|down-regulated in Mos-transformed cells protein|gremlin 1, cysteine knot superfamily, homolog|gremlin 1-like protein|gremlin-1|increased in high glucose protein 2|increased in high glucose-2|proliferation-inducing gene 2 2289561 BW440_H protein-coding 1350364 GREM2 gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis) This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq] 15621726,17029022,16710414,15489334,15254711,15039429,14702039,14525956,12477932,19626040,20379614 64388 NM_022469,AL358176,CH471098,AK024848,BC046632,BQ005641 NP_071914,CAH74074,EAW70083,EAW70084,BAB15026,AAH46632,Q9H772 Hs.98206 CKTSF1B2|DAND3|PRDC DAN domain family member 3|cysteine knot superfamily 1, BMP antagonist 2|gremlin 2 homolog, cysteine knot superfamily (xenopus laevis)|gremlin 2, cysteine knot superfamily, homolog|gremlin-2|protein related to DAN and cerberus protein-coding 1313942 GRHL1 grainyhead-like 1 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq] 1580863 18029348,18004979,16344560,15815621,15489334,12549979,12477932,12393799,12175488,10644752 29841 NM_198182,AC010969,CH471053,AA234992,AF198489,AF411210,AI686262,AK293855,AK296982,AK312950,BC063299,BC067519,BC067520,BC067521,BC098456,BE537504,BF573452,CB048030,CB960104,CD559574,DA860769 NP_937825,AAX93273,EAX00973,AAF32276,AAM22616,BAH11612,BAG59523,BAG35791,AAH67519,AAH67520,AAH67521,Q9NZI5 Hs.418493 LBP32|MGR|NH32|TFCP2L2 LBP protein 32|OTTHUMP00000200390|OTTHUMP00000213819|grainyhead-like protein 1 homolog|mammalian grainyhead|transcription factor CP2-like 2|transcription factor LBP-32 protein-coding 1342517 GRHL2 grainyhead-like 2 (Drosophila) The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28). 18029348,19015635,18752864,17921507,15489334,14702039,12549979,12477932,12393799,12175488,20379614,20978075,20938050 79977 NM_024915,NG_011971,AP000426,AP001207,CH471060,AK002034,AK023844,AK292853,AK296817,BC069618,BC069633,BC069638,BC129822,BC129823,AK310221,HC289750 NP_079191,EAW91833,EAW91834,BAB14699,BAF85542,BAG59390,AAH69618,AAH69633,AAH69638,AAI29823,AAI29824,Q6ISB3,CBJ06470 Hs.661088 BOM|DFNA28|FLJ11172|FLJ13782|MGC149294|MGC149295|TFCP2L3 OTTHUMP00000195102|brother of mammalian grainyhead|grainyhead-like protein 2 homolog|transcription factor CP2-like 3|transcription factor cp2-like 3 protein-coding 1318023 GRHL3 grainyhead-like 3 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein interacts with leader-binding protein 32 (LBP-32) and brother of mammalian grainyhead (BOM), and may function as a transcription factor during development. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Additional transcript variants have been described, but their biological nature has not been determined. [provided by RefSeq] 16344560,18814840,16710414,15489334,14702039,12549979,12477932 57822 DA714132,NM_001195010,NM_198173,NM_021180,NM_198174,NG_009308,AL031431,AL138902,CH471134,AK074386,AK315164,AL137763,AY231160,AY231161,BC036890,BU848928 NP_001181939,NP_937816,NP_067003,NP_937817,CAI21406,CAI21407,CAM12855,CAI22857,CAI22858,CAM12854,EAW95120,EAW95121,EAW95122,EAW95123,BAB85067,BAG37608,CAB70911,AAO67370,AAH36890,Q8TE85,Q9NST3,ABZ92406 Hs.657920 MGC46624|SOM|TFCP2L4 OTTHUMP00000003072|grainyhead-like protein 3 homolog|sister of mammalian grainyhead|sister-of-mammalian grainyhead|transcription factor CP2-like 4|transcription factor cp2-like 4|transcription factor hSOM1 protein-coding 1318860 GRHPR glyoxylate reductase/hydroxypyruvate reductase This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq] 1580863,1599318 10484776,10524214,15231747,11256614,19296982,17510093,16756993,16381901,15489336,15489334,15327387,14702039,12477932,11076863,11030416,10679197,15956068 1599318 9380 NM_012203,NG_008135,AF146689,AL158155,CH471071,AF113215,AF113251,AF134895,AF146018,AK024386,AK025978,AK026287,AK026752,AK307325,AK307902,AK315690,BC000605,BC003131,BC088360,CR590962,CR591687,CR592206,CR592742,CR597201,CR598870,CR599135,CR599399,CR602677,CR610353,CR616405,CR617672,CR621288,CR624268,CR626677 NP_036335,AAD46517,CAI13847,CAI13848,EAW58283,EAW58284,EAW58285,EAW58286,AAG39286,AAD54066,AAF00111,AAD45886,BAB15430,BAG38053,AAH00605,AAH88360,Q5M7Z5,Q5T945,Q9H636,Q9UBQ7,CAL38281,CAL38505 Hs.725132 GLXR|GLYD|PH2 glycerate-2-dehydrogenase|glyoxylate reductase/hydroxypyruvate reductase protein-coding 731547 GRIA1 glutamate receptor, ionotropic, AMPA 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,704404,4107070,4108489,4107726,2325963,2325284,4107069,4107719,2326034 20859245,1311100,19295509,19260139,19156168,19086053,18957620,18484081,18444252,18317690,18305116,17545169,17483093,17208968,16526023,15866042,15858065,15673434,15489334,15145077,15144856,14614461,14610080,12888558,12609872,12603841,12573530,12477932,12368290,12125045,11916847,11891216,11751897,11567040,11418862,11140673,11050113,10896157,10751563,1320959,1319477,12933808,8288598,10575214,10461883,10364548,10358037,10023812,9808458,9677374,9466455,9407043,9069287,8663994,8420792,8163463,7919190,7877986,1652753,20579352,12172541,16055064,17409242,18311135,19004011,19217372,19536293,19773551,19805317,20237279,20379614,20398908,20468064,9481670,9648857,21037582,20592726 4107070,4108489,4107726,2325963,2325284,4107069,4107719,2326034 2890 NM_000827,NM_001114183,AC010613,AC025156,AC091960,AC091962,CH471062,AB209094,AK289565,AK294011,AK294773,AK295039,AK295184,AK295827,AK310189,AK315934,AL120214,BC111734,DC335107,M64752,M81886,X58633 NP_000818,NP_001107655,EAW61649,EAW61650,EAW61651,BAD92331,BAF82254,BAH11647,BAH11879,BAH11956,BAH12004,BAH12192,BAH14305,AAI11735,AAA58613,AAA58395,CAA41491,P42261,Q59GL5 Hs.519693 GLUH1|GLUR1|GLURA|GluA1|HBGR1|MGC133252 AMPA 1|AMPA-selective glutamate receptor 1|gluR-1|gluR-A|gluR-K1|glutamate receptor 1|glutamate receptor, ionotropic, ampa1 (alpha 1) protein-coding 732446 GRIA2 glutamate receptor, ionotropic, AMPA 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq] 737715,1580863 8003671,19156168,19102704,19086053,18403631,18163426,17942280,16344560,16215279,16045445,15489334,15342556,15145077,15144856,15071096,15006707,14985749,14630051,12859334,12805550,12694394,12477932,12130635,12125045,12062022,11931740,11860506,11086992,11007883,10985351,10688364,10501226,8420792,8269514,7919190,7545935,7523595,1717158,1699275,1319477,1311100,10576550,11891216,8288598,11140673,10358037,12573530,16990550,10027300,11466413,12058067,14687553,15858065,16055064,17409242,19004011,19448189,19558602,19651138,19933774,20347265,20398908,20409611,20468064,8848293,9481670,9648857,9697855,9768844 737715 2891 NM_001083619,NM_000826,NM_001083620,AC079233,AC112240,AF201343,CH471056,AB209567,AK294458,AK308775,AK309067,AL708924,AL832605,BC010574,BC028736,BP202382,BP202686,DA228330,DA810082,L20814,FJ460423,FJ460424,FJ460425,FJ460429 NP_001077088,NP_000817,NP_001077089,AAF23955,EAX04865,EAX04866,EAX04867,EAX04868,EAX04869,EAX04870,EAX04871,BAD92804,BAH11774,AAH10574,AAH28736,AAA58631,P42262,Q59F93,Q9UHB0,ACJ74177,ACJ74178,ACJ74179,ACJ74183 Hs.32763 GLUR2|GLURB|GluA2|GluR-K2|HBGR2 AMPA-selective glutamate receptor 2|OTTHUMP00000165324|OTTHUMP00000220942|OTTHUMP00000220943|gluR-2|gluR-B|glutamate receptor 2|glutamate receptor, ionotropic, 2 protein-coding 737336 GRIA3 glutamate receptor, ionotrophic, AMPA 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq] 1580863 1709304,19548263,19449417,19295509,19156168,19086053,18593792,18163426,17989220,17202328,16368877,16344560,15772651,15145077,15144856,14687553,14663150,12682273,12477932,12125045,11931740,11891216,11725645,11160179,10688364,10644433,10602120,9892356,9697855,8951883,8036512,7918660,1319477,16990550,20689760,20859245,20579352,20564826,10027300,12172541,16055064,17409242,18311135,19004011,19217372,19736351,19933774,19945495,9481670,9648857,9768844 2892 NM_007325,NM_000828,NG_009377,AF159277,AF166365,AF167332,AF201349,AL035426,AL356213,AL590139,CH471107,Z82899,Z83848,AK297136,AW166130,BC032004,BC117464,BE504553,BY799542,DA158269,DA179917,DA180344,DA191279,DB505790,U10301,U10302 NP_000819,NP_015564,AAF61847,AAF61848,AAF97857,AAF97858,AAF97859,AAF23961,CAI95683,CAI95684,CAI95643,CAI95644,CAI95164,CAI95165,EAX11865,EAX11866,EAX11867,CAI95664,CAI95665,CAI95710,CAI95711,BAH12506,AAH32004,AAI17465,AAA67922,AAA67923,P42263,Q17R51,Q4TT43,Q5XKG2,Q9P0H1,Q9P0H2,Q9UHA9,CAI95709,ADR83410 Hs.377070 GLUR-C|GLUR-K3|GLUR3|GLURC|GluA3|MRX94 AMPA-selective glutamate receptor 3|OTTHUMP00000024262|dJ1171F9.1|gluR-3|glutamate receptor 3|glutamate receptor C|glutamate receptor ionotropic, AMPA 3|glutamate receptor subunit 3|glutamate receptor, ionotropic, ampa3 (alpha 3) protein-coding 733821 GRIA4 glutamate receptor, ionotrophic, AMPA 4 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq] 1580863,1358642 20859245,8589990,19156168,19125103,19086053,18521090,18163426,17233759,16344560,16190873,15823042,15450689,15306133,12603841,12574408,12497607,12477932,12471040,12393905,12125045,11891216,11140673,10688364,10366608,9466455,8889548,8163463,7992055,7518497,1319477,10027300,12172541,16055064,17409242,18311135,19217372,19573479,9481670,9648857 1358642 2893 BC142654,BC146816,BC150209,BM675457,BM723114,DA077870,DA391203,DB298333,DB305322,DB473702,DB548729,U16129,AB209092,NM_001077244,NM_001077243,NM_000829,NM_001112812,AP000641,AP000673,AP000813,AP001023,AP001561,CH471065,AB115416,AK311193,BC015199,BC035610,BC045546,BC114549,FJ947075,FJ947076 AAI14550,AAI42655,AAI46817,AAI50210,AAA95962,P48058,Q1WWK6,Q59GL7,Q6L8Q8,Q86XE8,BAD92329,AAI67786,NP_001070712,NP_001070711,NP_000820,NP_001106283,EAW67066,EAW67067,EAW67068,EAW67069,BAD23796,AAH45546,ACR45952,ACR45953 Hs.503743 GLUR4|GLUR4C|GLURD|GluA4 AMPA-selective glutamate receptor 4|gluR-4|gluR-D|glutamate receptor 4|glutamate receptor ionotropic, AMPA 4|glutamate receptor, ionotropic, 4 protein-coding 68523 GRID1 glutamate receptor, ionotropic, delta 1 This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity. 1580863 19346103,17490860,16380905,15489334,12477932,12372286,11829466,10574462,10234023,9828146,1372507,19584346,20379614 2894 NM_017551,NG_011875,AC022028,AC073162,AC079955,AL451059,AL596135,AL683834,AL732479,AL844892,CH471142,AB033046,AK127168,AK293104,AK302192,BC039263,BC047948,DR001156 NP_060021,CAI39475,CAI39587,EAW80338,EAW80339,EAW80340,EAW80341,BAA86534,BAG54447,BAF85793,BAH13646,AAH39263,Q5JQ58,Q9ULK0 Hs.530653 KIAA1220 OTTHUMP00000020003|gluR delta-1 subunit|glutamate receptor delta-1 subunit protein-coding 68527 GRID2 glutamate receptor, ionotropic, delta 2 Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. A point mutation in mouse GRID2, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This strongly suggests a role for GRID2 in neuronal apoptotic death. [provided by RefSeq] 1580863,704404 9465309,17027646,12589829,12573530,12477932,12372286,11829466,10748123,10234023,9847074,7506541,11826110,20859245,18256267,14572453,20379614,20487506 2895 NM_001510,AC020699,AC022317,AC093596,AC093733,AC095059,AC096769,AC104077,AC105315,AC105452,AC108158,AC110800,AC112695,AC115111,AC115537,CH471057,AB209318,AF009014,AK302355,AK308611,AK310262,BC099652,BC099653,BC099654 Q4W5S4,NP_001501,AAY40938,AAY41014,AAY40921,AAY41015,EAX06044,BAD92555,AAC39579,BAG63681,AAH99652,AAH99653,AAH99654,O43424,Q4KKU8,Q4W5B7,Q4W5F4,Q4W5L9 Hs.480281 MGC117022|MGC117023|MGC117024 GluR-delta-2|OTTHUMP00000219270|gluR delta-2 subunit|glutamate receptor delta-2 subunit protein-coding 1351156 GRID2IP glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM] 17027646,16835239,14612983,12690205,11826110 392862 NM_001145118,AC072052,CH236963 NP_001138590,EAL23724,A4D2P6 Hs.512174 DELPHILIN OTTHUMP00000208190|OTTHUMP00000208191|OTTHUMP00000208192|delphilin|glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1|glutamate receptor, ionotropic, delta 2-interacting protein 1 protein-coding 1345419 GRIFIN galectin-related inter-fiber protein 70755 18087242,17999360,15146197,12853948,12690205,9786891,19296714 70755 402635 AC004840,CH236953,CN281639 EAL23956 pseudo 731546 GRIK1 glutamate receptor, ionotropic, kainate 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq] 1642476,1642498,1642496,704404,1358334,1580863 20339536,20859245,20978832,9335499,10580501,8260617,19331489,19095219,19086053,18519826,17903305,17698324,15974569,14527949,12597860,11943148,11891216,11702055,11418862,10830953,10828597,10023812,9808458,9259378,9069287,8589992,8468067,8419920,8163463,7696618,20602751,16221857,18821565,19320626,19342380,19874574,19893199,19941835,20201926,20379614,20453000 1642476,1642498,1642496,1358334 2897 AF107257,AF107259,AP000091,AP000236,AP000237,AP000238,AP000239,CH471079,AA404271,AJ249208,AK294353,AK296404,BC028238,L19058,U16125,NM_175611,NM_000830 NP_000821,AAD03059,AAD04931,BAA97452,EAX09906,EAX09907,EAX09908,EAX09909,EAX09910,CAC80546,BAH11742,BAH12343,AAA52568,AAA95961,P39086,Q71UA3,Q9UNN1,AAI52728,AAI56976,NP_783300 Hs.664641 EAA3|EEA3|GLR5|GLUR5 OTTHUMP00000096570|OTTHUMP00000096571|OTTHUMP00000096572|OTTHUMP00000096573|OTTHUMP00000096574|excitatory amino acid receptor 3|gluR-5|glutamate receptor 5|glutamate receptor, ionotropic kainate 1 protein-coding 733691 GRIK2 glutamate receptor, ionotropic, kainate 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive mental retardation. [provided by RefSeq] 1580863,1358638,704404 20859245,20863077,15537878,7536611,19295509,19268276,19260141,19225180,19086053,18692513,18690046,18664604,18658129,18593792,18519826,17847003,17712621,17428563,17379418,17167233,16959037,16847693,15305151,15094479,14567698,12954862,12821179,12597860,12573530,12477932,12467946,12151522,12070168,11920157,11744724,11675011,11279111,11276111,10358037,9808460,9651532,9466455,9108071,9099808,8889548,8618850,8288598,8188697,8163463,8094892,8034316,7696618,7675232,7523595,11891216,16221857,18289788,19342380,19617541,19920140,20230879,20370803,20379614,20442744 1358638 2898 HM149336,HM149337,HM149338,HM149339,NM_175768,NM_021956,NG_009224,AL109919,AL355532,AL357058,AP002528,AP002529,AP002530,CH471051,AI087397,AJ252246,AJ301608,AJ301609,AJ301610,AK289542,AK291965,AK303721,AW949408,BC037954,BC063814,BM722353,BQ717946,S75105,U16126,HM149335,NM_001166247 ADH93570,ADH93571,ADH93572,ADH93573,NP_786944,NP_068775,CAC25104,EAW48446,EAW48447,EAW48448,CAC81020,CAC67485,CAC67486,CAC67487,BAF82231,BAF84654,BAH14032,AAH37954,AAH63814,AAC50420,Q13002,Q6P3V6,Q8IY40,Q9BZ15,ADH93569,NP_001159719 Hs.98262 EAA4|GLR6|GLUK6|GLUR6|MGC74427|MRT6 OTTHUMP00000017950|OTTHUMP00000017951|bA487F5.1|excitatory amino acid receptor 4|gluR-6|glutamate receptor 6|glutamate receptor form A|glutamate receptor form B|glutamate receptor form C|glutamate receptor form D|glutamate receptor form E|glutamate receptor, ionotropic kainate 2 protein-coding 735713 GRIK3 glutamate receptor, ionotropic, kainate 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq] 1580863 11891216,20859245,9144652,7719709,19320626,19221446,19169939,19125103,19086053,19022628,18423838,17213182,16958029,16356644,16325263,16314883,15897672,15094479,11986986,11943148,11124978,10737800,9466455,8163463,8128318,20052609,19342380,19921975,19995671,20379614 2899 NM_000831,NG_011447,AC117945,AJ308525,AJ308526,AL355386,AL591883,CH471059,S69349,U16128,AJ249210,AJ299451,AW898512,BG057125,BG818719,BI544689,BQ446793,DR003075,DT217951,U16127 NP_000822,CAC40655,CAC40656,CAC40657,CAC40697,CAI19119,EAX07350,EAX07351,AAB30157,AAC50421,CAC80548,CAC44965,AAB60407,Q13003,Q96QG5,Q96SC0,Q96SC1,Q96SC2,AAI56722 Hs.128848 EAA5|GLR7|GLUR7|GluR7a dJ1090M5.1 (glutamate receptor, ionotropic, kainate 3 (GLUR7))|excitatory amino acid receptor 5|gluR-7|glutamate receptor 7|glutamate receptor, ionotropic kainate 3 protein-coding 733741 GRIK4 glutamate receptor, ionotropic, kainate 4 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. [provided by RefSeq] 1580863 19125103,19086053,18824690,18289755,16819533,16325263,12954862,12477932,11334999,8288598,7527545,8263508,19384319,19328558,20859245,19342380,19924111,20110084,20125193,20201926,20379614 2900 NM_014619,AP000796,AP001929,AP002348,AP004147,CH471065,AK292726,AK314284,BC146652,BC150173,S67803 NP_055434,EAW67511,EAW67512,BAF85415,BAG36943,AAI46653,AAI50174,AAB29311,Q16099 Hs.568901 EAA1|GRIK|KA1 excitatory amino acid receptor 1|glutamate receptor KA-1|glutamate receptor KA1|glutamate receptor, ionotropic kainate 4 protein-coding 730907 GRIK5 glutamate receptor, ionotropic, kainate 5 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. [provided by RefSeq] 734533,1358334,1580863,2316538 1321949,19125103,19086053,18247129,16325263,15254951,14511640,12573530,12477932,11279111,9808460,9466455,9099808,9039653,7527545,8288598,16169070,19342380 734533,1358334,2316538 2901 NM_002088,AC010616,AC020946,AC022515,CH471126,AJ249209,BC037358,BC052975,BC131717,S40369 NP_002079,EAW57090,EAW57091,CAC80547,AAB22591,Q16478,AAI68375 Hs.367799 EAA2|GRIK2|KA2 excitatory amino acid receptor 2|glutamate receptor KA-2|glutamate receptor KA2|glutamate receptor, ionotropic kainate 5 protein-coding 731784 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq] 727540,1580863,1642190,1642372,704404,2326049,2325954 20097831,20414717,20634195,19422642,7679115,7685113,17047094,18445116,10480938,10749211,19328558,19156168,19095845,18991843,18990687,18792810,18644839,18606955,18296432,18182392,18068304,17728671,17506933,17284422,17255096,16969270,16767099,16476413,16332682,16289038,16272960,16189506,16140270,15888440,15841096,15635650,15564900,15531111,15448144,15338240,15265015,15030493,15030408,14973229,14970236,14732708,14644469,14575242,14573320,12893641,12775422,12753088,12746393,12707933,12679240,12646920,12610658,12414113,12408866,12363394,12210277,12191494,12082569,12068077,11803122,11754835,11606043,11588171,11506858,11483648,11160393,11140838,11136979,11109007,10862698,10518580,10197777,10049997,9952395,9835392,9728925,9670010,9651389,9620802,9502803,9482789,9425014,9231706,9030583,9009191,8783260,8768735,8625412,8406459,8406025,8316301,8139656,7926821,7695237,7681588,7622053,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16697675,16489129,12391275,12008020,11140673,15069201,11279200,15721239,20722663,19784770,10373510,12815021,14622581,17997397,19488045,19602553,19635471,19874574,20007519,20237496,20438806,20468064,8615909,8665664,8889548,9481670 727540,1642190,1642372,2325954 2902 NM_007327,NM_021569,NM_000832,NG_011507,AL929554,CH471090,AB208918,AB208999,AF015730,AF015731,D13515,L05666,L13266,L13267,L13268,S57708,U08106,U08107,BU728516,NM_001185090,NM_001185091 NP_015566,NP_067544,NP_000823,CAH72873,CAH72874,CAH72875,CAH72876,CAH72877,CAH72878,CAH72879,EAW88350,EAW88351,EAW88352,EAW88353,EAW88354,EAW88355,EAW88356,EAW88357,EAW88358,EAW88359,EAW88360,BAD92155,BAD92236,AAB67723,AAB67724,BAA02732,AAA21180,AAB59360,AAA36198,AAB59361,AAB25917,AAA62111,AAA62112,Q05586,Q59GW0,Q59H41,Q5VSF4,Q5VSF5,Q5VSF9,Q9UPF8,Q9UPF9,AAI56098,AAI56962,CAM17671,NP_001172019,NP_001172020 Hs.558334 NMDA1|NMDAR1|NR1 N-methyl-D-aspartate receptor channel, subunit zeta-1|N-methyl-D-aspartate receptor subunit NR1|NMD-R1|glutamate [NMDA] receptor subunit zeta 1|glutamate [NMDA] receptor subunit zeta-1 protein-coding 732269 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate-gated ion channels. These receptors have been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C) and NMDAR2D (GRIN2D). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1642190,1642204,1642198,1642207,1358644,734740,704404,2326049,2325954,2325284,4107070,2325867,2325949,2325963 8768735,17997397,18445116,10480938,18029348,19352218,19268276,19156168,19088076,19086053,19058789,18991843,18990687,18606955,18178157,17942280,17922030,17569088,17519952,17433503,17255096,17105731,17081983,17018562,17011703,16637659,16476413,16266783,15888440,15830322,15774266,15742215,14966475,14732708,14702039,14699423,14644469,12956718,12933808,12932824,12893641,12890763,12775422,12724619,12697264,12531901,12477932,12419528,12414113,12391275,12191494,12147342,12127670,12082569,12070168,12068077,12008020,11985816,11937501,11854440,11803122,11675505,11606043,11483648,11478920,11222640,11104776,10884433,10862698,10846184,10748123,10648730,10479680,10458595,10336672,10197777,10195142,9651389,9647694,9480759,9286858,9231720,8601796,8267632,8163463,8139656,8061049,7816096,7695237,7569905,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8724036,8581564,8563977,16697675,16489129,12576483,9278515,9892651,12923170,15681389,11279200,8804048,20677014,10373510,12815021,14622581,15254094,16990796,18570704,19834457,19874574,20041166,20070378,20148871,20379614,20398908,20468064,8615909,8665664,9481670,20448061,20890276 1642190,1642204,1642198,1642207,1358644,734740,2325954,2325284,4107070,2325867,2325949,2325963 2903 NM_000833,NM_001134407,NM_001134408,NG_011812,AC006531,AC007218,AC022168,AC026423,AC133565,AF443868,CH471112,AB209695,AK124698,AK295620,BC117131,BC143273,CR749843,R43097,U09002,U90277,AK308862 NP_000824,NP_001127879,NP_001127880,AAN75825,EAW85187,BAD92932,BAG58499,AAI17132,AAI43274,AAB60343,AAB49992,Q12879,Q17RZ6,Q547U9,Q59EW6,ADR83436 Hs.411472 NMDAR2A|NR2A N-methyl D-aspartate receptor subtype 2A|N-methyl-D-aspartate receptor channel, subunit epsilon-1|N-methyl-D-aspartate receptor subunit 2A|NMDA receptor subtype 2A|OTTHUMP00000160135|OTTHUMP00000174531|glutamate [NMDA] receptor subunit epsilon-1|hNR2A protein-coding 731079 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. [provided by RefSeq] 727540,1580863,1642197,1642200,1642201,1642204,1642207,1642190,1642372,704404,4107024,2325954,2325284,2326049,4107020,2325867,2326032,2326034,4107025 15083261,15030493,14662797,14644469,14573320,12893641,12890763,12857875,12824739,12775422,12753378,12738960,12650977,12556902,12531901,12524444,12477932,12476325,12414113,12391275,12191494,12147342,12127670,12082569,11997254,11979061,11956967,15211626,15180478,11937501,11844890,11807413,11799243,11679592,11606043,11588171,11483655,11483648,11459059,11317224,11306676,11029657,11024032,10884433,10846184,10748157,20421849,19336002,20427279,20347576,8768735,17047094,17997397,18445116,10480938,19605943,19591125,19562769,19523047,19453375,19367581,19350219,19328558,19324536,19279257,19268276,19156168,19095845,19088076,19086053,19011431,19005876,18991843,18983893,18606955,18303265,18068304,18007143,17962190,17942280,17669510,17620329,17569088,17506987,17506933,17255096,17224684,17010153,16911840,16870468,16766085,16549338,16436603,16380905,16289038,16266783,16120608,15866054,15841096,15812607,15742215,15673434,15542698,15489334,10620012,10488080,10485705,10479680,10458595,10381539,10341223,10197777,9806853,9651389,9647694,9620694,9581762,9547169,9427503,9326658,9231720,9009191,8940188,8780649,8601796,8163463,8139656,7999784,7959773,7695237,7569905,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16697675,16489129,9278515,11278603,15721239,20175224,10373510,12815021,14622581,15254094,16990796,18583979,19167335,19726645,19734545,19874574,20197096,20201926,20379614,20399867,20438806,20464528,20468064,20537720,8615909,8665664,9481670,18836292,20890276,21116278,19784770,20859245,20882066,20945430,20957330 727540,1642197,1642200,1642201,1642204,1642207,1642190,1642372,4107024,2325954,2325284,4107020,2325867,2326032,2326034,4107025 2904 NM_000834,AC007397,AC007535,AC007784,AC007916,CH471094,AB208850,BC113618,BC113620,U11287,U28758,U28861,U28862,U88963,U90278 NP_000825,EAW96311,BAD92087,AAI13619,AAI13621,AAB60368,AAA74930,AAA69919,AAA69920,AAD00659,AAB49993,Q13224,Q59HA9 Hs.654430 MGC142178|MGC142180|NMDAR2B|NR2B|hNR3 N-methyl D-aspartate receptor subtype 2B|N-methyl-D-aspartate receptor subunit 3|NR3|glutamate [NMDA] receptor subunit epsilon-2|glutamate receptor subunit epsilon-2 protein-coding 736076 GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C 1580863,704404 9798920,19156168,18444252,14644469,12775422,12477932,12414113,12082569,11937501,11606043,11483648,10479680,10197777,9651389,9647694,9480759,9037519,8267632,7695237,7569905,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16697675,16489129,11278603,10373510,12815021,14622581,19874574,8615909,8665664,9481670,9694864 2905 NM_000835,AC068874,CH471099,AB208799,BC031077,BC041128,BC059384,BC140801,BC144586,L76224,U77782 NP_000826,EAW89202,EAW89203,EAW89204,BAD92036,AAH31077,AAH41128,AAH59384,AAI40802,AAA88096,AAB71624,Q14957,Q59HF9,Q6PCC5,Q8IW23 Hs.436980 NMDAR2C|NR2C N-methyl D-aspartate receptor subtype 2C|N-methyl-D-aspartate receptor subunit 2C|glutamate [NMDA] receptor subunit epsilon-3|glutamate receptor, ionotropic, nmda2c protein-coding 732718 GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D 1580863,737806,2325945 17474147,9480759,19156168,19125103,18444252,16328341,16094258,14644469,12775422,12414113,12191494,12082569,11606043,11483648,10862698,10777567,10479680,10216082,10197777,9651389,9647694,9489750,9418891,9258910,8613785,7695237,7569905,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16697675,16489129,10373510,12815021,14622581,8615909,8665664,9481670 737806,2325945 2906 NM_000836,AB007621,AC008403,AC011527,CH471177,AB209292,AW139866,U77783 NP_000827,EAW52346,BAD92529,AAC15910,O15399,Q59G17 Hs.445015 EB11|NMDAR2D|NR2D N-methyl D-aspartate receptor subtype 2D|N-methyl-d-aspartate receptor subunit 2D|estrogen receptor binding CpG island|glutamate [NMDA] receptor subunit epsilon-4 protein-coding 733376 GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq] 1642190 17502428,17320117,17997397,18445116,17658481,11880201,19386922,19295509,19156168,19086053,18649358,18296432,18075478,17617428,17214563,17047094,14760703,14684485,14644469,12775422,12477932,12414113,12391275,11853319,11735224,11606043,11588171,11483648,11160393,10197777,9651389,9620802,7569905,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16489129,7695237,19913121,20628086,19488045,19665356,20016182,20084518,20379614,17082780 1642190 116443 NM_133445,AL356516,AL591377,CH471105,AB075853,AF416558,AJ416950,AK127342,AL137422,AL359651,BC029757,BC132866,BC132868,BC167432,HH956596 NP_597702,CAI16651,CAH69962,EAW58958,EAW58959,EAW58960,BAB85559,AAL40734,CAC95229,AAI32867,AAI32869,AAI67432,Q8TCU5,CBX51242 Hs.654783 FLJ45414|NMDAR-L|NR3A N-methyl-D-aspartate receptor subtype 3A|NMDAR3A|glutamate [NMDA] receptor subunit 3A protein-coding 1353575 GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 632842,1580863 12008020,7695237,11735224,19156168,17687115,17543277,15722182,15057824,11717388,8889548,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16489129,14644469,12775422,12414113,11606043,11483648,10197777,9651389,20016182,20153313,20398908,7569905 632842 116444 NM_138690,AC004528,AX223863,CH471139,AY507106,AY507107,BK000070,BK004079,CB243197 NP_619635,AAC12680,CAC69380,EAW69576,AAS87020,AAS87021,DAA00018,DAA04570,O60391,Q5F0I4,Q5F0I5,AAI56391 Hs.660378 NR3B N-methyl-D-aspartate receptor subtype 3B|NMDA receptor subunit 3B|NMDA type glutamate receptor subunit NR3B|NMDAR3B|OTTHUMP00000042007|glutamate [NMDA] receptor subunit 3B protein-coding 1606337 GRINA glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 8563977,16341674,12761501,12477932,8786101,8406459,1719427,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,18440869 2907 HB925977,HB937983,HB942716,HB954087,HB966685,HC983386,HC995392,HD000126,HD011497,HD024095,NM_000837,NM_001009184,AC109322,CH471416,AB097026,AK127640,AL157442,BC041788,BC065834,BC084553,BM762447,BQ682451,U44954,AK294127 CBF97932,CBG03816,CBG06126,CBG11699,CBG17985,CBV11452,CBV17338,CBV19648,CBV25213,CBV31340,NP_000828,NP_001009184,EAW52304,EAW52305,EAW52306,BAC77379,BAG54539,CAB75662,AAH41788,AAH84553,AAB94292,Q7Z429,BAG57457 Hs.594634 HNRGW|LFG1|MGC99687|NMDARA1|TMBIM3 NMDA receptor glutamate-binding subunit|glutamate [NMDA] receptor-associated protein 1|glutamate receptor, NMDA subtype, glutamate-binding subunit|putative MAPK-activating protein PM02|transmembrane BAX inhibitor motif containing 3 protein-coding 731440 GRINL1A glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A This gene (GRINL1A) is part of a complex transcript unit that includes the gene for GRINL1A combined protein (Gcom1). Transcription of this gene occurs at a downstream promoter, with at least three different alternatively spliced variants, grouped together as Gdown for GRINL1A downstream transcripts. The Gcom1 gene uses an upstream promoter for transcription and also has multiple alternatively spliced variants. [provided by RefSeq] 18669648,17361039,17317662,16769904,16572171,16381901,16189514,16112646,15489336,15489334,15233991,15175163,14702039,12477932,11474202,11256614,11076863,9373149,8125298,16169070,20412299 81488 NM_001018102,NM_015532,NR_027390,AC090651,CH471082,CQ783776,AF086209,AF326773,AK074767,AK074955,AK128618,AK223571,AK308873,AL050091,AY339380,AY341344,AY353061,BC001510,BI833260,BQ072611,CR600323,CR618518 NP_001018112,NP_056347,EAW77525,EAW77527,CAF86856,AAK92284,BAC11193,BAC11313,BAC87533,BAD97291,CAB43263,AAQ82540,AAQ76830,AAQ76837,AAH01510,P0CAP2,Q53ER8,Q6EEV4,CAL37599,ABM83961,ABM87275 Hs.437256 DKFZp586F1918 GRINL1A downstream protein Gdown4|Glutamate receptor-like protein 1A|Protein GRINL1A|glutamate receptor, ionotropic|protein GRINL1A|protein GRINL1A, isoforms 4/5 protein-coding 1347865 GRINL1B glutamate receptor, ionotropic, N-methyl D-aspartate-like 1B 1580863 18987736,15815621,12063407 339970 NG_009901,AC096727,AF326970 AAG50023,Q9BZD3 GLURR2 pseudo 1345662 GRIP1 glutamate receptor interacting protein 1 632959,1580863 15572661,10197531,19086053,19074285,18950845,18499756,18155042,17303296,16649994,16541075,16344550,15557560,15226318,14702039,12477932,12114525,12060666,12011465,11641419,12458226,10896157,11891216,12597860,10652338,10607837,11477071,12571287,20877300,18315564,14966289,16055064,16344560,16362036,19736351,19805480,20379614,9883737 632959 23426 NM_021150,AC022508,AC078888,AC078889,AC090710,AC122686,AC135251,AJ133439,AK095519,AK307576,BC029871,BC115393,BC115394,AK295565,AI190011,DA801887,NG_021400,NM_001178074 NP_066973,CAB39895,BAG58465,AAI15394,AAI15395,Q9Y3R0,NP_001171545 Hs.505946 GRIP glutamate receptor-interacting protein 1 protein-coding 1354510 GRIP2 glutamate receptor interacting protein 2 1580863 17474147,14702039,12168954,11641419,11214971,11214970,10574462,9110174,8619474,12629171,12923177,12458226,16055064,19734545,20379614,9768844 80852 NM_001080423,AC090952,AB051506,AF052177,AK024507,AK074145,AK095762 NP_001073892,BAB21810,BAB15797,BAB84971,Q9C0E4 Hs.517819 GRIP-2|glutamate receptor-interacting protein 2 protein-coding 732724 GRIPAP1 GRIP1 associated protein 1 GRASP1 is a neuron-specific guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF) and is associated with the GRIP/AMPA receptor complex in brain (Ye et al., 2000 [PubMed 10896157]).[supplied by OMIM] 632892 15761153,15507123,17761173,15897011,15772651,15489334,12571287,12477932,12207967,11891216,11704662,11230166,10896157,10574461,16169070 632892 56850 NM_020137,NM_207672,AF207550,BX530088,CH471224,AA679202,AB032993,AJ297364,AK292158,AL136847,BC001522,BC101544,BC101546,BC110636,BX640704,BX647801,BX647804,CD109978,NG_016263 NP_064522,NP_997555,CAI95785,CAI95786,CAI95787,EAW50715,EAW50716,EAW50717,EAW50718,EAW50719,BAA86481,CAB95949,BAF84847,AAH01522,AAI01545,AAI01547,CAE45824,CAI45985,Q4V328,ABM83652,ABW03542 Hs.109929 DKFZp434P0630|GRASP-1|KIAA1167|MGC126593|MGC126595 GRIP1-associated protein 1|MPMGp800B12492Q3|grip-associated protein 1 protein-coding 1345543 GRK1 G protein-coupled receptor kinase 1 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq] 2298875,2298876,1580863,1600000,1600001,1600002,1600004 12477932,16473576,19753316,1656454,9147475,9020843,18266817,17765441,17524610,16478881,17070587,16407241,16319817,15946941,12939331,11910029,11717351,11498053,11394879,10085129,9753452,9501174,9478965,9419375,9268593,9099669,8889548,8812493,8617805,1527025,10852916 2298875,2298876,1600000,1600001,1600002,1600004 6011 AY327580,BX537316,CH471085,L77502,AK289912,BC140945,BM702747,BX647503,L77503,U63973,NM_002929,AC187648,AF019764,AF019765 AAQ94192,EAX09222,AAT00534,BAF82601,AAI40946,AAG50439,AAB05929,O95098,Q15835,Q6VTF2,Q71VB6,AAC97161,NP_002920,AAC97160 Hs.721727,Hs.103501 GPRK1|RHOK|RK rhodopsin kinase protein-coding 1606583 GRK4 G protein-coupled receptor kinase 4 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. [provided by RefSeq] 8125298,20098747,1338872,19119263,18711008,18711006,18413491,18190783,17259440,17044852,16940246,16636198,16461192,16338988,15815621,15489334,15097232,12881416,12477932,12446468,12164861,11517230,10379886,9373149,9092566,8889548,8626439,8135832,19520868,19842931,19948975,20308035,20424473,20448640,20537417,20153824,19913121,20577119,20628086 2868 NM_001004057,NM_001004056,AL390065,CH471131,L03718,U33168,Z68192,AK223581,AK292390,BC027597,BC117320,BI465220,BM725978,U33054,U33055,U33056,NM_182982,X75897,X97879,X97880,X97881,X98118 NP_892027,NP_001004057,NP_001004056,EAW82479,EAW82480,EAW82481,EAW82482,EAW82483,EAW82484,EAW82485,AAB04045,AAC50409,AAC50410,AAC50411,AAC50412,CAA92341,BAD97301,BAF85079,AAI17321,AAC50406,AAC50407,AAC50408,CAA53506,CAA66468,CAA66469,CAA66470,CAA66802,P32298,ADR83217 Hs.32959 GPRK2L|GPRK4|GRK4a|IT11 G protein-coupled receptor kinase 2-like|G protein-coupled receptor kinase 4|G-protein coupled receptor kinase 4|ITI1|OTTHUMP00000216993|g protein-coupled receptor kinase GRK4 protein-coding 1348499 GRK5 G protein-coupled receptor kinase 5 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq] 1580863,4140391,4140399 20443868,9813065,17986524,8626574,8288567,7685906,19092051,19008357,18855542,18622265,18425130,18034461,16849637,15542828,15489334,15146197,14976207,14691047,12507501,12477932,12067742,11700307,11517230,11504827,10858434,10852916,10617630,10467231,10085129,9826657,8889548,8662852,8662816,8144599,7789183,10625670,9211925,9092566,21046632,14702039,16385451,19487588,19628119,19661922,19801552,19842931,20023040,20038610,20124405,20201926,20468064,20730384,19913121,20628086,20677014 4140391,4140399 2869 NM_005308,AL355273,AL355861,AL583824,CH471066,AK298261,AK301450,AK309761,AK313012,BC018116,BC064506,BC114448,BQ184611,CN290123,L15388,AF370369,AK097099,HI179064 NP_005299,CAI16487,CAI15804,CAI16759,EAW49393,EAW49394,EAW49395,BAG60525,BAG62974,BAG35847,AAH64506,AAI14449,AAA58620,P34947,Q24JT8,AAQ15205,CBX53840 Hs.524625 FLJ39780|GPRK5 FP2025|G protein-coupled receptor kinase 5|g protein-coupled receptor kinase GRK5 protein-coding 1350771 GRK6 G protein-coupled receptor kinase 6 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 20383146,8077221,17538017,17081983,16613860,15498832,15489334,14702039,12552191,12507501,12477932,12077128,12007830,11856737,11517230,11504827,10861009,10852916,10506199,10467231,10446210,10379886,10334944,9826657,9819198,9341194,9211925,8415712,8366096,7961702,7789183,16169070,19423652,19801552,19956569,19996089,20038610,20424473,20468064,19913121,20628086 2870 NM_002082,NM_001004106,NM_001004105,AC145098,CH471195,AF040751,AF040752,AK056697,BC009277,BC017272,BE965975,BI258860,BU507609,BX382886,CR594106,CR619325,CR621714,L16862,U00686 NP_002073,NP_001004106,NP_001004105,EAW84997,EAW84998,EAW84999,EAW85000,EAW85001,AAC09273,AAC09274,BAG51787,AAH09277,AAH17272,AAA60175,AAA03565,P43250,Q96AD6 Hs.235116 FLJ32135|GPRK6 G protein-coupled receptor kinase 6|OTTHUMP00000223835|g protein-coupled receptor kinase GRK6 protein-coding 1344318 GRK6PS G protein-coupled receptor kinase 6 pseudogene 9016947,7789183 2871 NG_001133,AL139380,U48958 GPRK6L|GPRK6P|GRK6PS pseudo 1347561 GRK7 G protein-coupled receptor kinase 7 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq] 1580863 18266817,15946941,15087239,12601058,11754336,11717351,19913121,20628086,16473576,20379614 131890 AC112504,CH471052,AF282269,AF439409,NM_139209 NP_631948,EAW78990,AAL33880,AAL48216,Q8WTQ7,AAI48328,AAI52978 Hs.680654 GPRK7 G protein-coupled receptor kinase 7|g protein-coupled receptor kinase GRK7 protein-coding 1603059 GRLF1 glucocorticoid receptor DNA binding factor 1 The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq] 20675588,1894621,19393245,19293150,19086053,18922893,18829532,18642445,18567581,18282590,17562701,17081983,16341674,16308318,16210701,16188938,15592455,15302935,14702039,12477932,12168954,11214970,11054565,8702520,12441060,9548756,9034330,20530197,20534586,20634891,11309200,16513268,19435801,9819392 2909 NM_004491,AC008755,AC008895,CH471126,AB051509,AF159851,AK096123,AK097314,AK298356,AL831914,BC003514,BC065491,BC131565,BC150257,BE871213,BM855708,CA429690,CX163309,M73077 NP_004482,EAW57450,EAW57451,EAW57452,EAW57453,BAB21813,AAF80386,BAG60600,AAI31566,AAI50258,AAA58618,Q9NRY4 Hs.509447 ARHGAP35|GRF-1|KIAA1722|MGC10745|P190-A|P190A|p190ARhoGAP|p190RhoGAP glucocorticoid receptor DNA-binding factor 1|glucocorticoid receptor repression factor 1|rho GAP p190A|rho GTPase-activating protein 35 protein-coding 736303 GRM1 glutamate receptor, metabotropic 1 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. The canonical alpha isoform of the metabotropic glutamate receptor 1 gene is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which may have distinct functions. [provided by RefSeq] 704404,1580863 7476890,9076744,19295155,19156168,19146831,18059092,17609672,17430891,17332361,16091361,15949941,15945063,15870073,15745950,15660124,15466247,15383311,15330338,15184389,15155843,14574404,12704387,12477932,12444084,11961143,11961129,11951051,11905408,11850456,11847215,11535235,11278325,11076863,10945991,10828618,10823959,10530810,10349865,10202136,9886087,9808459,9808458,9651375,9582347,9488690,9376535,20149785,9069287,8824806,16697675,16489129,14614461,19913121,20628086,20705606,20859245,15452121,19571223,19717561,19843246,19874574,19924463,20379614,20464528 2911 NM_000838,NM_001114329,AL031769,AL035698,AL096867,AL592423,CH471051,AB208837,AK308550,BC136280,BC143777,BC143779,L76627,L76631,U31215,U31216,NG_012839 NP_000829,NP_001107801,CAI22468,CAI22469,CAI20335,CAI20336,CAH71181,CAH71182,EAW47834,EAW47835,BAD92074,AAI36281,AAB05337,AAB05338,AAA87843,AAA87844,Q13255,Q59HC2,AAI11845 Hs.32945 GPRC1A|GRM1A|MGLUR1|MGLUR1A|mGlu1 OTTHUMP00000017365|OTTHUMP00000017366|OTTHUMP00000222175|OTTHUMP00000222176|metabotropic glutamate receptor 1 protein-coding 732930 GRM2 glutamate receptor, metabotropic 2 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,704404 7620613,19386277,19367581,19156168,19086053,19026996,18853337,18297054,16678921,16344560,15837331,15489334,15330338,15246118,12477932,11897108,11840499,11641422,11317221,9651375,8863838,8824806,15035981,11850456,19402024,19635471,19945495,20211215 2912 NM_000839,NM_001130063,AB045011,AC099050,CH471055,AK289984,AK313056,AK315816,AY999299,BC041447,BC113615,BC113619,BX648951,DA391442,EU432122,L35318,AB209164 NP_000830,NP_001123535,BAB19817,EAW65150,BAF82673,BAF98707,AAY14640,AAH41447,AAI13616,AAI13620,ABY87921,AAA76855,Q14416,Q59GE5,Q86YG3,BAD92401,ADR83425 Hs.121510 GLUR2|GPRC1B|MGLUR2|mGlu2 glutamate metabotropic receptor 2|glutamate receptor homolog|metabotropic glutamate receptor 2 protein-coding 732815 GRM3 glutamate receptor, metabotropic 3 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq] 1580863 17948896,17684500,17636131,17531207,17006672,16904291,16585454,16417579,16380905,15913960,15892884,15652990,15567072,15489334,15310849,15246118,15178451,15158450,14663150,12853948,12786977,12782962,12690205,12477932,11891216,11850456,11840505,11744707,11535235,11500049,11342382,8887960,8824806,8840013,19482054,19403271,19386277,19367581,19328558,19156168,19125103,19086053,18853337,18614340,18541626,18412850,18256595,18197082,18075480,20957330,21041608,19913121,20628086,20638435,15494036,18583979,19439994,20379614,20132315 2913 NM_000840,AC002081,AC004829,AC005009,CH236949,CH471091,AK291406,AK294178,AK294701,BC022496,BC041407,DQ315361,DQ315362,DQ315363,EU432123,X77748 NP_000831,AAC60379,AAD15616,EAL24182,EAW76971,EAW76972,BAF84095,BAH11690,BAH11851,AAH22496,AAH41407,ABC47402,ABY87922,CAA54796,Q14832,Q2PNZ6,ABM83322,ABM84213,ABM87618 Hs.590575 GLUR3|GPRC1C|MGLUR3|mGlu3 OTTHUMP00000204701|glutamate metabotropic receptor 3|metabotropic glutamate receptor 3 protein-coding 731311 GRM4 glutamate receptor, metabotropic 4 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq] 1580863,704404 9473604,15102938,8738157,19351574,19328558,19156168,19086053,17884634,16899734,16582932,16380905,20859245,15867225,15217955,15184361,14702039,14574404,11994312,11943148,11847215,11801738,11525421,10828590,10779504,8863838,8824806,7617140,12477932,15494036,20201926,20338729 2914 AAB34891 NM_000841,AL590403,CH471081,AB209104,AK122836,AK122982,AK126746,AK131536,AK289524,AK289534,AK289563,AK293913,AK293949,AK312300,BC130526,BC130528,EU432124,U92457,X80818,BC144057 NP_000832,CAI17348,EAX03759,EAX03760,BAD92341,BAG53752,BAG53831,BAG54370,BAD18673,BAF82213,BAF82223,BAF82252,BAH11625,BAH11632,AAI30527,AAI30529,ABY87923,AAB51762,CAA56784,AAB34891,Q14833,Q59GK5,Q6ZMQ2,AAI44058,ADR83416,ADR83420 Hs.654847 GPRC1D|MGC177594|MGLUR4|mGlu4 glutamate metabotropic receptor 4|metabotropic glutamate receptor 4 protein-coding 730960 GRM5 glutamate receptor, metabotropic 5 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7908515,19156168,19086053,18991960,18606955,18541671,18337251,18182392,17998106,17627080,17311919,15894802,15184389,15158450,15076751,14561742,12786977,12783878,12736269,12531526,12531512,12477932,12119301,11326300,9110174,8619474,8532169,7688218,9651375,11953448,9242710,9069287,9808458,20149785,19913121,20628086,11850456,11943148,15452121,15745950,19340012,19694902,20041166,20379614,20398908,20468064 2915 NM_000842,NM_001143831,AP000626,AP001482,AP001828,AP003120,AP006214,AP006215,CH471185,AF052171,AK291362,AW297388,AY608336,BC031602,BC047497,BX282658,D28538,D28539,DR002861,S64316,U79242 NP_000833,NP_001137303,EAW59358,EAW59359,BAF84051,AAT37960,BAA05891,BAA05892,AAD13954,P41594,Q6J164 Hs.147361,Hs.680431 GPRC1E|MGLUR5|mGlu5 OTTHUMP00000165953|OTTHUMP00000165956|OTTHUMP00000165957|metabotropic glutamate receptor 5 protein-coding 70075 GRM6 glutamate receptor, metabotropic 6 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq] 1580863,704404 9215706,19156168,19086053,18195715,17405131,16249515,15781871,11179672,11124982,20560679,19666700,19862333,20379614,20801516 2916 NM_000843,NG_008105,AB065467,AC104117,CH471165,U82083,AJ245871,AJ245872,BX647168 NP_000834,BAC05726,EAW53821,AAB82068,CAB65106,CAB65107,O15303,Q5HYM4,Q8NHA9,Q9UGK1,Q9UGK2,CAI46028,AAI72277 Hs.248131 CSNB1B|DKFZp686H1993|GPRC1F|MGLUR6|mGlu6 metabotropic glutamate receptor 6 protein-coding 1603058 GRM7 glutamate receptor, metabotropic 7 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 9473604,12052533,19351574,19328558,19156168,19086053,19047183,18821564,18329248,17167337,14702039,11953448,11943148,11912074,11891216,11163549,11007882,10828612,10550060,10488094,9144652,8840028,19913121,20628086,12477932,12746871,15494036,18599484,19165232,19638256,19736351,20038947,20068591,20078931,20201926,20379614,20398908,9630572 2917 NM_181874,NM_000844,AC023485,AC026199,AC026204,AC027121,AC034194,AC066585,AC066606,AC068313,AC077690,CH471055,AB209214,AI701722,AK097817,AK312488,AW511101,BC136458,BC136459,X94552,AK123326 NP_870989,NP_000835,EAW63933,EAW63934,EAW63935,BAD92451,BAG35390,AAI36459,AAI36460,CAA64245,Q14831,Q59G95 Hs.606393,Hs.660131 FLJ40498|GLUR7|GPRC1G|MGLU7|MGLUR7|mGlu7 OTTHUMP00000206961|OTTHUMP00000214674|OTTHUMP00000214675|metabotropic glutamate receptor 7 protein-coding 1350769 GRM8 glutamate receptor, metabotropic 8 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1358645,1580863 17684544,17167337,16144832,15489334,15211621,12477932,11943148,11912074,11329013,10216218,9299241,8824806,9473604,11166323,19268276,19156168,19058789,19023099,18618593,18195715,17975119,17955477,20560679,20800221,20237162,15452121,20009918,20201926,20379614,20398908 1358645 2918 HC309802,AC002424,AC002496,AC002497,AC002533,CH236947,CH471070,CS223369,AJ236921,AJ236922,AK123053,AK290197,AK315203,AY608335,BC093725,BC101675,BC143344,BG202742,BG211606,EU432125,U92459,U95025,NM_001127323,NM_000845,NR_028041,AC000099,AC000354,AC000355,AC000356,AC000361,AC000362,AC000363,AC000364,AC000365,AC000366,AC000367,AC000369,AC000370,AC000373,AC000374,AC002048,AC002057,AC002063,AC002083,AC002084,AC002113,AC002114 CBJ21208,EAL24322,EAW83621,EAW83622,EAW83623,EAW83624,CAJ46924,CAB36968,CAB36969,BAF82886,AAT37959,AAH93725,AAI01676,ABY87924,AAB51764,AAB72040,O00222,Q99997,NP_001120795,NP_000836,AAB46348 Hs.449625 FLJ41058|GLUR8|GPRC1H|MGC126724|MGLUR8|mGlu8 OTTHUMP00000024506|OTTHUMP00000069010|OTTHUMP00000199504|OTTHUMP00000212423|glutamate metabotropic receptor 8|metabotropic glutamate receptor 8 protein-coding 1345254 GRN granulin Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq] 1580863 19913121,20479936,20628086,20711061,20489155,20798611,20858962,21047645,20215705,20045477,20570546,20682318,21087763,1542665,19473366,19255408,19237611,19179604,19158106,19101631,19091059,19056610,19049508,19016491,19012866,18955727,18855025,18848708,18838661,18771956,18768919,18752597,18723524,18706200,18593276,18565828,18551524,18543312,18479928,18464284,18442119,18413474,18413467,18392865,18378771,18359860,18322394,18245784,18234697,18223198,18192287,18184915,18183624,18166610,18157829,17984093,17950702,17949857,17826340,17698705,17620546,17572900,17522386,17458552,17439980,17436289,17417739,17383054,17371905,17353379,17345602,17291356,17278999,17266030,17261172,17228326,17210807,17202431,17166276,17157414,16983685,16983677,16950801,16862116,16862115,16857791,16713569,16533762,16189514,15653695,15569995,15489334,15231748,14977833,14702039,14652816,12931033,12914763,12900424,12588988,12538450,12526812,12477932,12031912,11846389,11549288,11068878,10728698,10715107,10477733,10397269,10079180,9826678,9373149,9110174,8912679,8619474,8496151,8471426,8471244,8125298,2268320,1618805,1417868,18276110,20087814,18029348,18314228,18723384,19020205,19133655,19321167,19487464,19618231,19625741,19632744,19649643,19730170,19730171,19749415,19795409,19847305,19858458,19863344,19864668,19938685,19963041,20020531,20028451,20054825,20061636,20142524,20142525,20154673,20171924,20197700,20237496,20387302,20463744,19940479,21107132 2896 NM_002087,NG_007886,AC003043,CH471178,AF055008,AK000607,AK023348,AK222522,AK296090,AK303830,AY124489,BC000324,BC010577,BT006844,CR590771,CR591645,CR592712,CR594600,CR594708,CR601091,CR602616,CR604991,CR606406,CR613011,CR616538,M75161,X62320 NP_002078,EAW51599,EAW51600,EAW51601,AAC09359,BAB14535,BAD96242,BAG58844,BAG64777,AAM94026,AAH00324,AAH10577,AAP35490,AAA58617,CAA44196,P28799,Q53HQ8,Q9H8S1 Hs.514220 GEP|GP88|PCDGF|PEPI|PGRN PC cell-derived growth factor|acrogranin|granulin-epithelin|granulins|proepithelin|progranulin protein-coding 737598 GRP gastrin-releasing peptide This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. Its preproprotein, following cleavage of a signal peptide, is further processed to produce either the 27 aa gastrin-releasing peptide or the 10 aa neuromedin C. These smaller peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 8756537,3027901,19357287,19086053,18452185,18350254,18289674,16920698,16909108,16641105,15899028,15849504,15750618,15664365,15638385,15489334,15203211,14764456,13679857,12820319,12820318,20596631,12477932,12474049,11960700,11906707,11696365,11278902,10657515,8137267,8008632,7838118,6207529,3211139,3027902,3003116,3001723,1557184,16754659,18240029,19506400,19907206,20468064 2922 NM_002091,NM_001012512,NM_001012513,AC067859,CH471096,M12511,M12512,AB102889,AK307264,BC004488,BT006803,CK903483,K02054,M12550,W01859 NP_002082,NP_001012530,NP_001012531,EAW63091,EAW63092,AAA52610,AAA52611,AAA52612,BAD89418,AAH04488,AAP35449,AAA52613,P07492,Q5FBX9,Q6LDX5,ABM84377,ABM87222 Hs.153444 BN|GRP-10|preproGRP|proGRP bombesin|gastrin-releasing peptide|neuromedin C|pre-progastrin releasing peptide protein-coding 1345534 GRPEL1 GrpE-like 1, mitochondrial (E. coli) 1580863 9110174,8619474,11311562,15489334,12840016,12477932,20877624 80273 NM_025196,AC097382,CH471131,AF070525,AF087896,AF298592,AK098475,AK301695,AK312882,BC024242,CR601403,CR621363,CR622705 NP_079472,EAW82370,EAW82371,AAP97195,AAG31605,BAG63167,BAG35730,AAH24242,Q9HAV7,ABM82449,ABM85639 Hs.443723 FLJ25609|HMGE GrpE-like protein cochaperone|grpE protein homolog 1, mitochondrial|mt-GrpE#1 protein-coding 1342740 GRPEL2 GrpE-like 2, mitochondrial (E. coli) 1580863 20877624,15489334,14702039,12477932,9694873,18029348,17207965 134266 NM_152407,AC131025,CH471062,AK074293,AK091237,AK096445,AK294005,AL704536,AL832325,BC036678,BC070090 NP_689620,EAW61786,BAB85040,BAG57367,CAD38619,AAH36678,AAH70090,Q8N3S0,Q8TAA5,ADQ31967 Hs.511816 DKFZp451C205|FLJ23713|FLJ33918|Mt-GrpE#2 OTTHUMP00000223957|grpE protein homolog 2, mitochondrial protein-coding 731959 GRPR gastrin-releasing peptide receptor Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq] 1580863 20211708,8391296,7838118,1655761,9674911,9259269,8406441,7759104,19478282,19343734,19204726,18753628,18676680,18663369,18497507,18483184,18452185,18393381,17726264,17349623,16344560,15967120,15941862,15489334,15361544,14747448,14729406,12771999,12720295,12526815,12477932,12474049,12409226,12220644,11960700,11245983,10620630,16754659,20596631,18240029,19170196,19631337,19642024,19692168 2925 AAB27329 NM_005314,NG_012512,AC004025,AC078993,AF293321,AF293322,AF293323,CH471074,AK313588,AU125660,BC074733,M73481,U57365 NP_005305,AAL96377,EAW98909,BAG36357,AAH74733,AAA88050,AAB40612,AAB27329,P30550,Q99642 Hs.567282 GRP-R|GRP-preferring bombesin receptor|gastrin-releasing peptide receptor protein-coding 1602464 GRRP1 glycine/arginine rich protein 1 16344560,14702039,12477932 79927 NM_024869,AL391650,CH471059,AK024112,AK290715,AU119858,BC025658,CR594191,CR612361 NP_079145,CAI17136,EAX07844,BAB14829,BAF83404,AAH25658,Q8TAY7 Hs.694119 FAM110D|FLJ14050|RP11-96L14.5 glycine/arginine-rich protein 1 protein-coding 1322002 GRSF1 G-rich RNA sequence binding factor 1 The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20877624,8036161,14702039,12477932,12239318,10359774,8751379 2926 NM_002092,NM_001098477,AC021989,CH471057,AI151431,AK023187,AK055499,AK056891,AK090755,AK094806,AK095799,AK097055,AK124124,AK124242,AK127161,AK294612,AK296287,AK298883,AV739732,BC040485,BC043201,CR598934,CR623192,DN990192,U07231 NP_002083,NP_001091947,AAY40942,EAX05631,EAX05632,EAX05633,EAX05634,BAG51526,BAG51822,BAC03513,BAG52934,BAG53131,BAG53414,BAG54012,BAC86863,BAH11824,BAH12303,BAH12895,AAH40485,AAC95399,Q12849 Hs.309763 FLJ13125 G-rich sequence factor 1|GRSF-1|OTTHUMP00000219149|OTTHUMP00000219150|OTTHUMP00000219151 protein-coding 1319426 GRTP1 growth hormone regulated TBC protein 1 19077034,12477932,8889548 79774 NM_024719,AL136221,CH471085,CS300716,AB449887,AK026127,AK300897,AK309959,BC033071,BC062461,BC080640,BC112123,BC112125,BC143682,CB242314,CR595430,CX788865 NP_078995,CAI13799,CAI13800,EAX09204,EAX09205,EAX09206,CAK32380,BAH16630,BAB15368,BAG62536,AAH33071,AAH62461,AAH80640,AAI12124,AAI12126,Q5TC63 Hs.170904 FLJ22474|MGC138328|MGC138330|TBC1D6 TBC1 domain family member 6|TBC1 domain family, member 6|growth hormone-regulated TBC protein 1 protein-coding 1344190 GRWD1 glutamate-rich WD repeat containing 1 GRWD1 is a component of the 50S and 80S preribosomal complexes and plays a role in ribosome biogenesis (Gratenstein et al., 2005 [PubMed 15885502]).[supplied by OMIM] 1580863 17081983,17041588,16344560,15885502,15635413,15489334,12549820,12477932,12429849,11853319,18162579 83743 NM_031485,AC008403,CH471177,CQ783568,AF337808,AK074676,AK131055,AK300225,AK315625,AL713729,BC002440,BC036281,BC047351,CR616744,DA200417,DA714522,EF011614 NP_113673,EAW52347,CAF86737,AAK17998,BAC11130,BAG61993,BAG37993,CAD28519,AAH02440,ABK41104,Q8NCK5,Q8TCJ8,Q9BQ67,ABM83556,ABM86794 Hs.400625 CDW4|GRWD|KIAA1942|RRB1|WDR28 CUL4- and DDB1-associated WDR protein 4|WD repeat domain 28|glutamate rich WD repeat protein GRWD|glutamate-rich WD repeat-containing protein 1|regulator of ribosome biogenesis 1 homolog protein-coding 2298825 GRXCR1 glutaredoxin, cysteine rich 1 20137778,15815621,9847074,11329013 389207 NG_027718,NM_001080476,AC098861,AC106896,AC108035,AA588868,BG213384,DT932651,DY654338 NP_001073945,A8MXD5,AAI48673,AAI53210 Hs.162559 DFNB25 glutaredoxin domain-containing cysteine-rich protein 1 protein-coding 2301277 GRXCR2 glutaredoxin, cysteine rich 2 15372022 643226 NM_001080516,AC011359,CH471062 NP_001073985,EAW61855,A6NFK2 Hs.570895 GRXCR1-like protein|Glutaredoxin domain-containing cysteine-rich protein 1-like protein|glutaredoxin domain-containing cysteine-rich protein 2 protein-coding 736937 GSC goosecoid homeobox This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq] 704404 19875614,19935299,20195123,7916327,18074379,17142318,15761153,15489334,15014966,12642491,12477932,9417125 145258 NM_173849,AL121612,CH471061,AY177407,BC063580 NP_776248,EAW81594,AAO18645,AAH63580,P56915 Hs.440438 homeobox protein goosecoid protein-coding 1313301 GSC2 goosecoid homeobox 2 Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq] 1580863 9700206,9150167,10822263,9441739 2928 NM_005315,AC004463,CH471176,U96402 NP_005306,EAX03052,AAC39544,O15499 Hs.534318 GSCL GSC-2|GSC-L|goosecoid-like|homeobox protein goosecoid-2|homeobox protein goosecoid-like protein-coding 1351273 GSDM2 gasdermin 2 432402 1344122 GSDM3 gasdermin 3 432403 1347779 GSDMA gasdermin A 17471240,19051310,17350798,15010812,14702039,12883658,12477932,10967128,19820697,20860503 284110 NM_178171,AC090844,CH471152,AA826386,AB093591,AF307953,AK096439,BC109197 NP_835465,EAW60624,BAC75636,AAL14426,BAC04790,AAI09198,Q96QA5 Hs.448873 FKSG9|FLJ39120|GSDM|GSDM1|MGC129596 gasdermin 1|gasdermin-1|gasdermin-A protein-coding 1346441 GSDMB gasdermin B 19760754,20816195,20860503,19133921,19068216,19051310,19029000,18038310,17350798,15342556,15010812,14702039,12883658,12477932,11483580,16712791,20601676,17611496,19430480,19732864,20378605,20228799,20639880 55876 NM_018530,AC090844,CH471152,AF119884,AF258572,AK000409,AK057588,AK296607,BC025682,BP366854,BX538068,BX647700,CA488357,NM_001042471,CB136981,EU526753,EU526754,EU526755,EU526756,NG_015804,NM_001165958,NM_001165959 NP_001035936,NP_061000,EAW60612,EAW60613,EAW60614,EAW60615,AAF69638,AAG23775,BAA91146,BAG59219,AAH25682,CAD97998,ACB37349,ACB37350,ACB37351,ACB37352,Q8TAX9,ACE87661,ACE86971,NP_001159430,NP_001159431 Hs.306777 GSDML|PP4052|PRO2521 OTTHUMP00000164331|OTTHUMP00000164332|gasdermin-B|gasdermin-like protein protein-coding 1319081 GSDMC gasdermin C 1580863 11223543,19270707,19051310,20881960,17350798,16344560,15489334,12477932,18029348 56169 AJ245876,BC035321,BC063595,DA437012,NM_031415,AC022849,CH471060,AB042405 CAC21571,AAH35321,AAH63595,Q9BYG8,Q9H1C8,NP_113603,EAW92124,BAB40331 Hs.133244 MLZE gasdermin-C|melanoma-derived leucine zipper, extra-nuclear factor|melanoma-derived leucine zipper-containing extranuclear factor protein-coding 1316349 GSDMD gasdermin D 737633 19051310,17350798,16421571,15592455,15489334,15289881,14702039,12477932 737633 79792 DC398191,NM_001166237,AC067930,CH471162,NM_024736,AF318341,AK022212,AK093858,AK096216,AK123985,AK127941,AK291817,AK303615,AY008304,BC008904,BC069000,CR591078,CR596587,CR600090,CR602447,CR602948,CR603320,CR604130,CR613262,CR616645,CR617523,CR621325,CR623742 NP_001159709,NP_079012,EAW82242,EAW82243,EAW82244,EAW82245,EAW82246,EAW82247,EAW82248,AAL55848,BAB13986,BAG53233,BAG53989,BAC87201,BAF84506,BAG64625,AAG22861,AAH08904,AAH69000,P57764,Q6ZRV8,Q8WYV7 Hs.118983 DF5L|DFNA5L|FKSG10|FLJ12150|GSDMDC1 gasdermin domain containing 1|gasdermin domain-containing protein 1|gasdermin-D protein-coding 1315222 GSG1 germ cell associated 1 16344560,16303743,14702039,12975309,12477932,11181995,9337410,20379614 83445 NM_001080554,NM_001080555,NM_031289,NM_153823,AC023790,AC079628,CH471094,CQ783930,AK027894,AK058045,AK075288,AK075311,AK075322,AW959540,AY358513,BC001796,BC033854,BC112896,BG721146,BI827923,BI830401,DA370135 NP_001074023,NP_001074024,NP_112579,NP_722545,EAW96299,EAW96300,EAW96301,EAW96302,EAW96303,CAF86930,BAB55437,BAB71638,BAC11524,BAC11540,BAC11548,AAQ88877,AAH01796,AAH33854,AAI12897,Q2KHT4,ABM83007,ABM86200 Hs.240053 MGC111023|MGC3146 germ cell-specific gene 1 protein protein-coding 1604995 GSG1L GSG1-like 16344560,15489335,12975309,12477932 146395 NM_001109763,NM_144675,AC008732,AC009030,AC130449,CH471145,AI418246,AK128775,AY302134,AY358206,BC016460,CV024949,DB306756 NP_001103233,NP_653276,EAW55740,EAW55741,EAW55742,BAG54729,AAP57626,AAQ88573,AAH16460,Q6UXU4,ABM84515,ABM85880 Hs.91910 MGC18079|PRO19651 GSG1-like protein|KTSR5831|germ cell-specific gene 1-like protein protein-coding 1353091 GSG2 germ cell associated 2 (haspin) 1580863 19997740,20237496,19910498,11228240,17084365,16565220,15681610,15489334,14702039,12477932,11311556,20705812,20929775 83903 NM_031965,AC116914,CH471108,AB039834,AF289865,AK056691,AK292715,BC016626,BC036181,BC047457,BC050662,CR615999 NP_114171,EAW90481,BAB21938,AAK30300,BAB71255,BAF85404,AAH16626,AAH47457,Q8TF76 Hs.534059 HASPIN H-haspin|germ cell-specific gene 2 protein|haploid germ cell-specific nuclear protein kinase|serine/threonine-protein kinase haspin protein-coding 1353864 GSK1 glycogen synthase kinase 1 2929 1345279 GSK2 glycogen synthase kinase 2 2930 731783 GSK3A glycogen synthase kinase 3 alpha Glycogen synthase kinase 3-alpha (GSK3A; EC {2.7.1.37}) is a multifunctional protein serine kinase, homologous to Drosophila 'shaggy' (zeste-white3) and implicated in the control of several regulatory proteins including glycogen synthase (see GYS1, {138570}) and transcription factors (e.g., JUN, {165160}). It also plays a role in the WNT ({164820}) and PI3K (see PIK3CG, {601232}) signaling pathways (see review by {1:Ali et al. (2001)}).[supplied by OMIM] 2306093,1580863 11035810,16446437,17569761,8524413,19507191,19336475,19156168,19142874,19136008,18955053,18829575,18516299,18500637,18450971,18285345,18042454,17609434,17325032,17192257,17158447,17052453,16987514,16984735,16934436,16912034,16806170,16757548,16611631,16543145,15631989,15592455,15489334,15194499,15057824,14550568,12890758,12761548,12675919,12665592,12477932,12379450,12086949,12054501,11884598,11749387,11500362,10448973,9809441,8725894,7931292,7715701,15361837,15469820,20368287,20371704,20541704,19759537,11481324,14635195,15302935,15324660,16537926,16543730,17139249,19323791,19464003,19656851,19706605,20080974,20113358,7706316,8404858,9468292,20831597,16365045,19705135 2306093 2931 CR610570,CR615336,CR749620,D63424,L40027,CR597295,NM_019884,AC006486,CH471126,BC027984,BC051865,CR593340 CAH18414,BAA23608,AAA62432,P49840,Q68D16,ABM81940,ABM84255,ABM85121,ABM87623,NP_063937,AAD11986,EAW57114,EAW57115,AAH27984,AAH51865 Hs.466828 DKFZp686D0638 GSK-3 alpha|OTTHUMP00000198368|glycogen synthase kinase-3 alpha protein-coding 733891 GSK3B glycogen synthase kinase 3 beta Glycogen synthase kinase-3 (GSK3) is a proline-directed serine-threonine kinase that was initially identified as a phosphorylating and inactivating glycogen synthase (see GYS1, MIM 138570). Two isoforms, alpha (GSK3A; MIM 606784) and beta, show a high degree of amino acid homology (Stambolic and Woodgett, 1994 [PubMed 7980435]). GSK3B is involved in energy metabolism, neuronal cell development, and body pattern formation (Plyte et al., 1992 [PubMed 1333807]).[supplied by OMIM] 1641844,1581696,1641929,1641931,2293188,2306093,1358650,1300048,1580863,1358649,1302533,1302569 15465828,14744935,11035810,9601641,8638126,14749367,11104755,16188939,8524413,11955436,12000790,12820959,15327769,16753179,19581563,19453261,19429245,19429119,19321622,19289791,19274078,19265551,19237556,19190323,19188159,19180470,19156168,19154537,19148484,19142874,19116273,19107203,19104043,19060929,19050253,19022564,19007860,18996844,18996102,18991351,18955053,18955029,18952601,18855532,18852354,18852124,18838540,18829575,18806775,18804163,18801732,18787224,18786229,18782353,18769147,18768676,18708403,18689794,18687691,18676680,18660489,18632640,18628988,18615589,18606491,18602000,18588978,18552505,18500637,18451303,18450971,18437054,18408738,18391982,18391981,18316598,18316369,18263590,18252708,18243662,18223684,18221734,18219478,18218855,18201972,18195729,20599907,20178594,20709358,16115820,16199882,19757160,20204404,20368287,20457218,20562859,20800594,20934407,19505532,20127713,18178198,18167338,18156211,18083346,18055457,17991738,17990294,17976739,17972518,17951252,17912008,17908237,17717075,17711861,17697341,17681942,17671694,17628506,17621269,17621172,17609434,17590240,17565981,17562708,17522055,17486076,17475833,17438332,17434145,17389597,17387146,17483602,17368486,17357145,17325032,17283049,17273789,17270183,17241872,17233643,17192257,17160944,17159916,17150190,17139249,17107957,17098228,17081983,17072303,17052453,17050006,17046823,17028556,17016438,16987514,16987250,16984735,16982692,16981698,16964243,16959574,16951223,16942622,16934436,16916907,16912034,16893889,16882987,16861141,16788573,16787706,16767496,16757548,16705181,16645641,16611631,16601113,16571670,16551619,16543730,16543145,16537926,16528748,16519508,16462886,16428884,16428445,16421604,16420965,16397405,16371352,16365045,16344560,16341242,16315267,16289845,16282323,16278684,16257959,16210249,16198352,16174773,16107342,16076840,16055726,16043125,16027724,16007092,15993040,15981102,9731200,9570753,9566905,9565682,9546672,9482734,9468292,9353289,9199504,8999860,8889548,8861947,8764598,8404858,8382613,8247524,7980435,7706316,7642555,7566346,7514173,6772446,1333807,1330687,1324914,1181841,12183362,18198341,15963640,15951569,15942663,15940626,15799972,15752768,15719395,15631989,15609321,15592455,15555766,15522877,15517997,15489334,15469820,15456937,15379854,15375789,15351432,15345747,15302935,15254796,15252116,15231747,15179015,15178691,15178331,15147888,15132987,15073173,15026145,15020233,14991743,14988390,14988008,14985354,14729229,14729058,14691449,14660640,14617795,14561750,14550568,14536078,14523002,14520463,14518171,12969793,12900420,12885254,12871932,12829841,12819195,12808104,12796505,12794074,12778079,12761178,12663502,12603528,12584189,12566926,12554650,12477932,12434148,12387897,12387894,12379450,12376533,12364325,12244165,12228224,12226093,12182887,12167628,12162494,12147701,12133000,12130654,12123574,12114015,12095675,12086949,12064478,12063245,12054501,12051714,12048243,11986994,11980723,11967263,11903055,11877389,11818547,11812770,11809746,11781156,11738041,11524435,11500362,11495916,11483158,11481324,11440715,11427888,11425860,11320080,11311121,11181841,11004522,10966653,10936190,10910956,10826493,10753899,10671552,10653665,10587587,10581160,10523816,10488109,10486203,10428961,10428053,10090741,9832503,9832145,9819408,9809441,9771888,9736715,9735171,18172167,18367454,10330181,10330403,11251183,12511557,9734785,11152665,16009706,17353931,15824731,15448698,15829978,15383283,15688030,14636947,20541704,20497256,16890161,19411070,20160451,20167573,20226637,19913121,20602615,20605420,20618448,20628086,20644561,20682308,20371704,20357815,10567568,11166179,12927815,15361837,15652488,16141410,16247449,16814287,16936772,17078951,17318175,17360711,18045539,19003984,19170196,19249679,19303846,19323791,19401395,19454488,19457211,19472218,19477245,19501118,19528467,19557001,19584164,19607922,19625176,19639192,19656851,19657367,19659461,19681904,19682504,19692168,19706605,19711366,19717166,19727391,19751508,19797085,19823589,19833727,19841191,19874574,19903789,20007971,20008284,20015462,20031160,20033742,20039940,20080974,20103767,20154711,20159967,20190034,20219685,20308328,20333643,20351102,20399743,20453000,20468064,20508983,20513428,19882709,20454507,20510151,20648061,20649541,15647282,18029348,19754670,20679343,20831597,21038412,20352103,20615469,20525681,20531236,21105670 1641844,1581696,1641929,1641931,2293188,2306093,1358650,1358649,1302533,1302569 2932 NM_001146156,AC069444,AC078856,AC092910,AF074333,AF098789,CH471052,AB451356,AK290897,BC000251,BC012760,CA312249,CR536510,CR615239,CR617019,DA477189,EU302497,L33801,NM_002093,HH982569,HH982571,NG_012922,BX640779 NP_002084,NP_001139628,AAD48517,AAC69340,EAW79533,EAW79534,EAW79535,EAW79536,BAG70170,BAF83586,AAH00251,AAH12760,CAG38748,ABX89591,AAA66475,P49841,Q6FI27,ABM83427,ABM86640,CBX51856,CBX51857 Hs.445733 GSK-3 beta|GSK3beta isoform|glycogen synthase kinase-3 beta protein-coding 1349905 GSM1 geniospasm 1 9382105 2933 1346375 GSN gelsolin (amyloidosis, Finnish type) The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1599858,1599864,1599866,1599869,1599872,1599873,1580863 1321812,12732734,17353931,17373842,17620599,3020431,14718574,19389844,19246681,19002257,18848913,18822171,18802097,18704746,18656242,18584046,18204200,17982131,17720986,17556051,17534828,17258204,17254575,17178161,17130841,16882345,16556605,16475811,16344560,16217750,16008344,15922735,15538717,15527423,15526166,15489334,15377282,15310273,15281090,15215896,15213223,15033777,14702039,14652020,14596804,14527665,14527664,12966145,12941811,12833632,12752443,12665801,12655044,12613021,12592377,12578912,12477932,12460571,12270712,12027462,11925941,11753432,11733011,11577104,11171090,11093254,11039896,10945978,10809769,10802062,10793131,10583954,10521462,10329371,10210201,9819354,9671712,9323209,9109384,9003812,8703941,8599675,8395021,8310295,7868127,7849017,7550233,6282935,6092370,2831714,2176481,2175344,2157434,2153578,1658654,1652889,1338910,1322359,1315718,1311149,16526095,9164868,16169070,14563843,14530271,19561443,20740538,20810916,20937821,19465002,19549824,19601795,19625752,19666512,19883430,19904968,19956804,20093811,20379614 1599858,1599864,1599866,1599869,1599872,1599873 2934 NM_000177,NM_001127662,NM_001127663,NM_001127664,NM_001127665,NM_001127666,NM_001127667,AL049930,AL513122,CH471090,AI742454,AK092797,AK096280,AK125819,AK295201,AK295572,AK297870,AK299453,NM_198252,AK300631,AK304629,AK304675,AK307859,AK315494,AL832070,BC017491,BC026033,BU151663,BX647999,CR596569,CR618098,DA294394,DA394782,DA450851,DB170452,DB250757,DC316173,DC341948,DC370937,X04412,NG_012872 NP_937895,NP_000168,NP_001121134,NP_001121135,NP_001121136,NP_001121137,NP_001121138,NP_001121139,CAI14413,CAI14414,CAI14415,CAI14416,CAI14417,CAI14418,EAW87489,EAW87490,EAW87491,BAG52611,BAG53247,BAG54252,BAH12010,BAH12109,BAH12682,BAH13037,BAH13318,BAH14228,BAH14236,BAG37878,CAH10407,AAH17491,AAH26033,CAA28000,P06396,Q5T0H7,Q5T0H8,Q5T0I0,Q5T0I1,Q5T0I2,Q69YR8,ABM83113,ABW03494,CAM20459 Hs.522373 DKFZp313L0718 ADF|AGEL|OTTHUMP00000022014|OTTHUMP00000162202|actin-depolymerizing factor|brevin|gelsolin protein-coding 1344503 GSPT1 G1 to S phase transition 1 1580863 15326224,9620853,9712840,12489690,2511002,19424636,19165527,18083835,17700517,17562865,16713569,16582619,16452507,16344560,15987998,15987717,15908960,14702039,12865429,12477932,10493829,10358005,9928949,8889548,2841115,1574740,20562859,17577209,18539146,19963113 2935 NM_001130007,NM_002094,NM_001130006,AC007216,CH471112,U95742,AK095367,AK095483,AK096386,AK290382,AK315267,AU132091,BC008391,BC009503,BM666324,BT006722,CR593395,CR594646,DC384910,X17644 NP_001123479,NP_002085,NP_001123478,EAW85130,EAW85131,EAW85132,AAB67250,BAF83071,BAG37683,AAH09503,AAP35368,CAA35635,P15170,Q7KZX8,Q96GF2 Hs.528780 551G9.2|ETF3A|FLJ38048|FLJ39067|GST1|eRF3a G1 to S phase transition protein 1 homolog|eukaryotic peptide chain release factor GTP-binding subunit ERF3A|eukaryotic peptide chain release factor subunit 3a protein-coding 1354196 GSPT2 G1 to S phase transition 2 GSPT2 is closely related to GSPT1 (MIM 139259), a GTP-binding protein that plays an essential role at the G1- to S-phase transition of the cell cycle in yeast and human cells. GSPT1 is a positive regulator of translational accuracy and, in a binary complex with eRF1 (MIM 600285), functions as a polypeptide chain release factor.[supplied by OMIM] 1580863 16754297,9712840,19417105,18264098,16344560,15987998,12354098,10575220,10358005,14702039,12477932 23708 BF514488,DB173006,NG_016857,NM_018094,AL929101,CH471230,AI191874,AJ251548,AK001303,AK023155,AK298868,BC036077,CR623122,DA712335 NP_060564,CAH71524,EAW62898,CAB91089,BAA91612,BAG60988,AAH36077,Q8IYD1 Hs.59523 ERF3B|FLJ10441|GST2|eRF3b eukaryotic peptide chain release factor GTP-binding subunit ERF3B|eukaryotic peptide chain release factor subunit 3b protein-coding 732221 GSR glutathione reductase 1580863,1600697,1600704,1600708,1625122 20877624,947404,19377255,19124506,18977241,18638483,18341267,17601350,17206382,16868544,16424062,16421571,15978628,15592455,15489334,15149466,14637279,12901426,12838770,12838767,12826156,12630007,12533953,12516882,12477932,12447480,12095224,11710935,11273669,11204445,10708558,9546215,9174360,9151953,8626496,7663973,7334521,7060551,6822532,3656429,2379581,2185014,923580,302667,16169070,19913121,20485444,20628086,16341674,19527700,19560448,19806191,19896490,20200426,20379614,2306116,17185460,8889548,20628807 1600697,1600704,1600708,1625122 2936 NM_000637,AC009314,AC103959,AF228703,AY338490,CH471080,AF228704,BC035691,BC069244,BM478942,BM838919,CR597200,CR603039,X15722,X54507,NG_027719,AB519179,AB519180,AB519181,BM148117,CA944703,NM_001195102,NM_001195103,NM_001195104 NP_000628,AAF37572,AAF37573,AAP88037,EAW63442,EAW63443,EAW63444,EAW63445,AAF37574,AAH69244,CAA33744,CAA38367,P00390,Q03504,BAI43437,BAI43438,BAI43439,NP_001182031,NP_001182032,NP_001182033 Hs.271510 MGC78522 GR|GRase|glutathione reductase, mitochondrial protein-coding 735330 GSS glutathione synthetase Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq] 1300048,1580863,1599324,1302516 7646467,8896573,465367,19111905,18977241,17601350,17503480,17234469,17206463,15890065,15489334,15173170,14990577,12638941,12477932,11780052,11167850,10861239,10652368,10450861,9501919,9215686,8825653,6137189,6112263,1518371,19913121,20485444,20628086,20413906,20800579,20439344,10369661,19672693,20200426 1599324,1302516 2937 NM_000178,NG_008848,AF485789,AL133324,CH471077,DQ074975,AB459500,AK293144,AK298292,AK311421,AK311567,AK312492,BC007927,CR596201,CR602068,CR611077,CR617218,CR620374,U34683 NP_000169,AAL91591,CAB93423,EAW76239,EAW76240,EAW76241,AAY57328,BAG75452,BAH11461,BAH12750,BAG35394,AAH07927,AAB62390,P48637,Q8TDA8,ABM84164,ABM87567 Hs.82327 GSHS|MGC14098 GSH synthetase|GSH-S|glutathione synthase|glutathione synthetase protein-coding 1349200 GSTA1 glutathione S-transferase alpha 1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq] 1641938,1580863 1731620,11851347,3800996,19515364,19448608,19376514,19343046,19076156,19062541,19027952,18992148,18977241,18854779,18791061,18784548,18644106,18641537,18635758,18496131,18476723,18430527,18414193,18300949,18224491,18214047,18186040,18161889,18066575,18065725,17899366,17716224,17644396,17631926,17601350,17425746,17374652,17333241,17197702,17086718,17071629,17021248,16865249,16786188,16624829,16599007,16365014,16280386,16190865,16116487,15952767,15900282,15893769,15808404,15797627,15757902,15746160,15616829,15525789,15489334,15319294,15202795,15182170,15128049,14690442,12871945,12524083,12516103,12477932,12473455,12447480,12211029,12206662,12139976,12093480,12087351,11931663,11747461,11692074,11668220,11550208,11535243,11152686,10213291,10053036,9503014,8889548,8598105,8591048,8431482,8331657,8307579,8242618,8185623,7888077,3678589,3138230,3036131,3031680,2604726,2018473,1530570,17207965,20102361,1330133,20529827,20672371,19491810,19584821,19618965,19639209,19696793,19786980,19789190,19896490,19902075,19953622,19959275,20032816,20056632,20100551,20200426,20207535,20216541,20237496,20331903,20367187,20368715,20374258,20377137,20391138,20437058 1641938 2938 NM_145740,AL590363,CH471081,S76235,AK293371,AK310324,AY532928,BC053578,BC110891,BG430521,BI762344,BM973137,CA841071,CR407656,CR601373,CR605001,CR610102,DC339498,M14777,M15872,M21758,M25627,S49975 NP_665683,CAI13812,EAX04385,AAB20973,BAH11495,AAT06769,AAH53578,AAI10892,CAG28584,AAA52618,AAA70226,AAA52615,AAA36174,AAB24012,P08263,Q5GHF8,Q5SZC1,ADQ32574 Hs.446309 GST2|GSTA1-1|GTH1|MGC131939 GST HA subunit 1|GST class-alpha member 1|GST, class alpha, 1|GST-epsilon|S-(hydroxyalkyl)glutathione lyase A1|glutathione S-alkyltransferase A1|glutathione S-aryltransferase A1|glutathione S-transferase 2|glutathione S-transferase A1|glutathione S-transferase Ha subunit 1 protein-coding 737133 GSTA2 glutathione S-transferase alpha 2 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq] 1641938,1358120,1300048,1580863 3138230,19343046,19339270,19074885,18977241,17601350,17290392,17259654,16006997,15778998,15489334,15128049,14574404,12477932,12139976,12093480,20434437,12023294,11692074,11668220,10676639,9230131,8889548,8431482,8307579,8242618,7892174,3901925,3800996,3678589,3036131,3031680,2604726,1627661,1530570,1330133,1497629,1329668,19913121,20628086,19639209,19751749,19859803,20083122,20200426,20237496,20437850,20453000 1641938,1358120 2939 NM_000846,AL109918,CH471081,S45640,X65727,AK292602,AK313601,BC002895,BE795593,BE796134,BU685446,H62933,M16594 NP_000837,CAB92770,EAX04384,AAB23672,CAA46642,CAA46643,BAF85291,BAG36367,AAH02895,AAA52616,P09210,Q12760,ABM83917,ABM87238 Hs.94107 GST2|GSTA2-2|GTA2|GTH2|MGC10525 GST HA subunit 2|GST class-alpha member 2|GST, class alpha, 2|GST-gamma|HA subunit 2|S-(hydroxyalkyl)glutathione lyase A2|glutathione S-alkyltransferase A2|glutathione S-aralkyltransferase A2|glutathione S-aryltransferase A2|glutathione S-transferase 2|glutathione S-transferase A2|glutathione-s-transferase, alpha type2|liver GST2 protein-coding 1351230 GSTA3 glutathione S-transferase alpha 3 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq] 1641938,1580863 9480897,19343046,18977241,18426392,17601350,16876319,15595823,15489334,15454730,14574404,12477932,11872752,11418619,8307579,20083122,20200426,20237496 1641938 2940 AL121969,CH471081,DQ993361,L13275,AA846513,AF020919,AF508266,AI199811,BC020619,BG573805,CR601508,DT932587,NM_000847 NP_000838,CAC10389,CAI42453,CAI42454,EAX04390,EAX04391,ABI75350,AAA74634,AAD04712,AAM33360,AAH20619,Q16772,Q5JW84,Q5JW85,ABM82315,ABM85490 Hs.102484 GSTA3-3|GTA3|MGC22232 GST class-alpha member 3|OTTHUMP00000016614|S-(hydroxyalkyl)glutathione lyase A3|glutathione S-alkyltransferase A3|glutathione S-aralkyltransferase A3|glutathione S-aryltransferase A3|glutathione S-transferase A3|glutathione S-transferase A3-3 protein-coding 1320601 GSTA4 glutathione S-transferase alpha 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq] 1641942,1358120,1580863 11851347,19343046,19240061,18977241,18930016,18767114,18676680,18485437,18080870,18065725,17601350,17553661,17290392,16344560,16189514,16054170,16006997,16005854,15489334,14761685,14702039,14574404,12477932,12093480,11884396,11724905,11687296,11640913,11368510,10329152,9820822,9587421,9480897,9461507,20485444,20634891,19170196,19625176,19692168,19751749,20085333,20097730,20150287,20157331,20200426,20237496,20966433 1641942,1358120 2941 AF050059,AL121969,AL162581,AY878121,CH471081,AA709059,AF020918,AF025887,AF125271,AF125272,AF125273,AK054804,AK315369,BC015523,BC063439,BC096817,BG716171,CR594939,CR597241,CR599141,CR604578,CR608427,CR613653,CR625957,CR749474,DA521337,Y13047,NM_001512 NP_001503,AAC72706,CAI42451,CAI42455,CAI42456,CAI19517,AAW56075,EAX04393,EAX04394,EAX04395,EAX04396,EAX04397,EAX04398,EAX04399,AAD04711,AAC39695,AAD27704,AAD27705,AAD27706,BAG51425,BAG37762,AAH15523,AAH63439,CAH18304,CAA73482,O15217,Q5JW88,Q6P4G1,ABM81587,ABM84767 Hs.485557 DKFZp686D21185|GSTA4-4|GTA4 GST class-alpha member 4|S-(hydroxyalkyl)glutathione lyase A4|glutathione S-alkyltransferase A4|glutathione S-aralkyltransferase A4|glutathione S-aryltransferase A4|glutathione S-transferase A4|glutathione S-transferase A4-4|glutathione transferase A4-4 protein-coding 1344623 GSTA5 glutathione S-transferase alpha 5 The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM] 1580863 10676639,18977241,17601350,14574404,12042665,19664689,20200426,20237496 221357 NM_153699,AL590363,BK000212,CH471081 NP_714543,CAI13814,DAA00071,EAX04386,EAX04387,Q7RTV2,AAI46333,AAI48817 Hs.646984 GST class-alpha member 5|OTTHUMP00000016610|glutathione S-transferase A5|glutathione S-transferase A5-5|glutathione transferase A5 protein-coding 1606335 GSTAP1 glutathione S-transferase alpha pseudogene 1 14726935,8307579,8185623 2942 NG_001135,AL590363,L13269 GSTAP1 pseudo 1350888 GSTAP2 glutathione S-transferase A pseudogene 2 1329668,16344560,1329668 2943,730152 DB320793,AL109918,NR_033760 Hs.94107 GSTAP2 pseudo 1602688 GSTCD glutathione S-transferase, C-terminal domain containing 14702039,12477932,9373149,8125298,20010834,20010835,20332099 79807 NM_024751,NM_001031720,AC008243,AC105391,CH471057,AK023335,AK225563,AK292355,AK303547,BC032942,BX648355 NP_079027,NP_001026890,EAX06191,EAX06192,EAX06193,BAB14532,BAF85044,BAH13983,AAH32942,Q8NEC7 Hs.161429 DKFZp686I10174|FLJ13273 OTTHUMP00000219810|glutathione S-transferase C-terminal domain-containing protein protein-coding 1606879 GSTK1 glutathione S-transferase kappa 1 This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants. 17353931,11256614,19225211,18774560,18154451,17601350,16381901,16081649,15607001,15489336,14742434,14709161,14702039,12720545,12690205,12477932,11230166,11076863,11042152,8920976,20472488,18029348,19639233 373156 NM_001143679,AY520571,BC001231,BC050715,BC063425,BC110600,BQ436828,CR533445,CR597274,CR600089,CR605600,CR613327,CR614943,CR615801,NM_015917,NM_001143680,NM_001143681,AC073342,AY486465,CH236959,CH471198,AF068287,AF070657,AF087849,AK000640,AK095263,AK289570,AK289580,AK295592,AK299968,AL136938 AAS00610,AAH01231,AAH50715,AAH63425,AAI10601,CAG38476,Q2NLC8,Q6FII1,Q9Y2Q3,CAL38607,NP_057001,NP_001137152,NP_001137153,AAS01180,EAL23783,EAW51877,EAW51878,EAW51879,EAW51880,AAF65506,AAD20963,AAP97160,BAG53018,BAF82259,BAF82269,BAG58483,BAG61794,CAB66872,NP_001137151 Hs.390667 GST|GST 13-13|GST13|GST13-13|GSTK1-1|hGSTK1 GST class-kappa|OTTHUMP00000202104|glutathione S-transferase k1|glutathione S-transferase kappa 1|glutathione S-transferase subunit 13 homolog protein-coding 736060 GSTM1 glutathione S-transferase mu 1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 2293828,2293798,2293823,2293824,2293826,2293830,2306625,2306627,2306628,2306629,2306633,2293800,2293827,2293831,2306632,2293825,2293845,1331525,1358668,1358120,4140941,4140939,4142528,4140943,4142509,4142538,4140921,4140927,4142513,4140932,2314952,4142512 19591959,19589847,19589345,19584821,19582785,19564823,19561157,19555437,19549811,19548560,19538885,19537956,19535834,19528963,19528831,19521675,19515364,19513514,19506726,19498054,19491810,19486347,19484507,19481674,19473562,19469640,19469619,19464563,19443391,19440446,19430957,19428381,19428374,19427967,19424794,19419718,19412423,19407363,19401526,19394866,19391035,19383894,19380028,19376514,19362955,19358278,19347979,19343046,19338664,19338043,19336732,19336475,19334053,19332728,19330259,19317600,19307236,19303722,19303595,19287511,19286687,19279659,19270789,19267064,19265530,19258736,19256768,19253001,19252926,19252342,19247656,19246429,19244254,19228880,19223573,19222528,19219857,19218107,19209780,19203783,19190172,19183974,19177501,19174490,19169061,19161404,19160101,19157724,19151739,19147266,19143011,19131562,19124514,19124506,19124497,19117770,19115684,19114965,19102712,19102379,19086569,19074750,19062541,19057715,19057702,19056870,17333241,17318627,17318621,17307803,17307802,17301692,17298885,17296590,17291352,17290402,17290392,17284320,17277043,17265526,17250723,17228018,17221058,17217536,17206640,17203516,17195228,17194620,17194543,17191090,17187162,17182005,17180579,17179680,17178637,17171211,17167268,17160315,17158763,17158087,17123660,17119198,17119046,17118447,17084623,17083362,17072629,17071629,17069592,17064856,17059341,17059334,17035385,17034008,17026750,17023730,17022435,17020091,17016589,17005168,16998606,16995867,16424825,16416283,16415899,16413497,16409207,16395669,16393248,16390810,16380991,16365014,16361831,16360200,16357600,16357593,16353154,16338071,16334806,16328000,16321221,16318999,16318816,16316639,16314088,16308270,16302194,16291859,16284498,16283344,16282887,16273625,16270381,16238106,16235998,16235991,16235985,19055448,19051221,19032232,19027952,19026998,19024313,19017460,19012698,19009239,19005482,18993042,18992263,18992148,18990750,18990742,18990008,18988661,18986377,18979064,18977241,18976645,18952980,18950733,18948376,18850183,18840420,18839526,18838881,18836923,18834935,18829006,18816171,18800292,18784548,18779738,18778871,18774560,18768784,18768514,18768509,18760837,18725054,18720901,18713495,18712965,18706519,18698632,18690546,18683505,18666559,18666253,18645668,18644106,18642288,18641537,18641208,18635758,18630481,18630123,18628429,18618215,18610829,18608187,18601742,18597073,18596959,18594869,18593984,18591888,18590468,18589596,18583868,18581889,18580952,18577398,18574688,18573513,18572765,18569591,18569590,18569587,18566013,18559562,18551009,18550589,18544910,18544563,18542066,18521819,18507060,18507050,18496222,18496134,18495522,18493876,18492019,18491076,18477036,18472644,18463401,18461673,18455004,18449862,18449058,18447907,18444911,18443805,18425393,18416133,18415801,18414197,18413200,18411704,18409821,18398695,18397238,18392488,18387669,18385010,18365908,18365755,18334963,18328165,18325667,18305556,18304461,18304215,18303971,18300949,18298341,18287869,18285692,18282563,18280004,18270371,18269668,18268125,18262724,18261353,18254710,18241825,18240903,18224491,18214047,18207572,18203021,18199464,18177825,18162130,18161889,18159984,18155166,18094897,18093316,18090121,18082227,18080216,18078203,16985033,16977512,16977343,16973661,16973168,16939958,16938565,16927413,16921513,16917939,16914185,16911024,16906563,16898590,16887863,16886896,16884947,16882827,16870661,16870093,16869871,16865249,16864595,16847185,16839232,16837240,16830058,16829689,16823842,16804018,16798650,16788846,16788422,16788248,16771603,16765145,16760134,16758119,16740387,16721740,16720291,16707601,16703596,16702390,16697254,16676598,16676594,16642467,16638627,16631467,16625286,16624155,16622263,16621679,16620591,16620556,16620396,16618661,16615268,16614120,16614107,16614106,16614101,16611538,16599007,16596290,16580705,16574194,16567317,16551760,16551674,16550944,16536303,16535827,16535824,16531839,16523188,16521944,16520888,16519766,16517545,16509765,16504378,16496253,16493615,16488119,16484137,16484136,16481407,16472391,16471212,16466991,16459354,16456144,16452581,16438295,16427734,18074677,18070799,18067039,18066575,18065725,18061941,18058229,18057098,18056202,18053222,18035413,18035380,18035379,18033323,17996038,17985662,17982751,17980001,17979505,17965781,17953974,17937745,17922436,17916905,17916600,17914442,17912498,17908297,17900751,17897446,17896209,17885617,17880378,17879833,17874314,17873299,17870518,17869325,17853809,17716707,17714740,17711870,17707637,17700360,17696741,17693660,17684133,17683074,17653748,17653713,17652311,17651144,17646057,17644396,17643058,17631926,17624589,17617661,17617021,17611777,17610937,17603900,17601350,17581325,17572208,17568619,17565746,17565649,17563610,17548691,17536768,17531965,17525473,17524385,17514530,17513527,17513317,17508968,17507624,17505575,17502835,17497028,17479278,17477782,17476458,17469025,17465707,17461521,17454600,17450230,17449559,17448506,17445838,17439673,17438538,17437619,17431481,17429172,17428724,17428572,17420047,17418613,17416773,17416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2293828,2293798,2293823,2293824,2293826,2293830,2306625,2306627,2306628,2306629,2306633,2293800,2293827,2293831,2306632,2293825,2293845,1331525,1358668,1358120,4140941,4140939,4142528,4140943,4142509,4142538,4140921,4140927,4142513,4140932,2314952,4142512 2944 NM_000561,NM_146421,NG_009246,AC000031,AC000032,S62935,X51451,X68676,AY510272,AY532926,AY532927,BC024005,BC036805,BC095463,BQ436476,CR541868,DB459176,J03817,X08020 NP_000552,NP_666533,AAD13938,CAA35817,CAA48636,AAR85979,AAT06767,AAT06768,AAH24005,CAG46666,AAA59203,CAA30821,P09488,Q16041,ACT64407,ACT64408,ADQ32855 Hs.301961 GST1|GSTM1-1|GSTM1a-1a|GSTM1b-1b|GTH4|GTM1|H-B|MGC26563|MU|MU-1 GST HB subunit 4|GST class-mu 1|HB subunit 4|OTTHUMP00000013348|OTTHUMP00000013349|S-(hydroxyalkyl)glutathione lyase|glutathione S-alkyltransferase|glutathione S-aralkyltransferase|glutathione S-aryltransferase|glutathione S-transferase M1|glutathione S-transferase Mu 1|glutathione s-transferase, mu 1 protein-coding 1349551 GSTM1L glutathione S-transferase mu 1-like 2737666 2945 NG_012650,AC091492 GST1L|GSTM1L pseudo 735264 GSTM2 glutathione S-transferase mu 2 (muscle) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq] 2302178,1358120,1580863 2034681,19343046,19168034,19151192,18551009,18510611,18308613,18065725,16549767,18007994,17197702,16344560,16002077,15725629,15489334,14634838,12871945,12486119,12477932,12192076,10676639,9761928,9452477,9164836,8373352,8317488,8242618,8182750,6500576,2345169,2006920,1602151,1530570,19913121,20485444,20628086,19696791,19856098,19859803,20200426,20417188 2302178,1358120 2946 NM_000848,NM_001142368,AC000031,CH471122,X56838,AK299482,AK309796,BC017836,BC105038,BC105066,BC110380,BM924181,BT019947,CR593978,CR602220,CR605073,CR605552,CR610968,CR613986,CR614262,CR620137,DA528798,M63509 NP_000839,NP_001135840,EAW56406,CAA40168,BAG61446,AAI05039,AAI05067,AAI10381,AAV38750,AAA60963,P28161,Q0D2I8,Q9UE37 Hs.279837 GST4|GSTM|GSTM2-2|GTHMUS|MGC117303 GST class-mu 2|GST, muscle|OTTHUMP00000013350|OTTHUMP00000013353|S-(hydroxyalkyl)glutathione lyase M2|glutathione S-alkyltransferase M2|glutathione S-aralkyltransferase M2|glutathione S-aryltransferase M2|glutathione S-transferase 4|glutathione S-transferase M1|glutathione S-transferase M2 (muscle)|glutathione S-transferase Mu 2|glutathione s-transferase, mu 2 protein-coding 3322399 GSTM2P1 glutathione S-transferase mu 2 (muscle) pseudogene 1 442245 AL357515,AY532924,AY532925,NR_002932 AAT06765,AAT06766 Hs.551627 pseudo 1349768 GSTM3 glutathione S-transferase mu 3 (brain) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 19151192,19074885,19062541,18992148,18990750,18977241,18850183,18676680,18668224,18569590,18551009,18510611,18447907,18423940,18258609,18204928,18177825,18065725,17922434,17904251,17716224,17617661,17601350,17565746,2345169,17353931,10037815,19521675,19486347,19424794,19407363,19343046,19339270,19336475,17449559,17372252,17290392,17259654,17220350,17083362,17034008,16985026,16886896,16765145,16760134,16598069,16509765,16488179,16328000,16189514,16172217,16112301,16006997,15914277,15829318,15665284,15654505,15621212,15525789,15489334,15459020,15338373,15115915,15069685,14968442,14735473,14634838,12548461,12477932,12359356,12063626,12016153,11927838,11740339,11692073,11535247,11511301,11408349,11303592,11289100,11173863,11081456,11040079,10587441,9882431,9797707,9230131,8824514,8473333,8404061,8373352,8317488,8242618,8218382,1530570,19913121,20485444,20549140,20577141,20628086,20634891,20661821,19060904,19170196,19692168,19696791,19751749,19786980,19789190,19822571,19856098,19860743,19898482,19922706,20029944,20032816,20131310,20136364,20200426,20237496,20391138,20391338,20437850,20461808,20819778,20847076,20970553,21072184 2947 NR_024537,NM_000849,AF043105,AL158847,CH471122,EU136188,AB209816,AI201498,AI570401,AK304300,AK313444,BC000088,BC008790,BC030253,BE392471,BG285419,BT019945,CR542108,CR591709,CR594709,CR596255,CR614504,CR615961,CR617393,CR620381,EF363096,J05459 NP_000840,AAC17866,CAI22581,EAW56409,ABV02583,BAD93053,BAG65154,BAG36233,AAH00088,AAH08790,AAV38748,CAG46905,ABO72589,AAA60964,P21266,Q59EJ5,Q6FGJ9,ABM82760,ABW03438 Hs.2006 GST5|GSTB|GSTM3-3|GTM3|MGC3310|MGC3704 GST class-mu 3|OTTHUMP00000013355|S-(hydroxyalkyl)glutathione lyase M3|brain GST|brain type mu-glutathione S-transferase|glutathione S-alkyltransferase M3|glutathione S-aralkyltransferase M3|glutathione S-aryltransferase M3|glutathione S-transferase M3 (brain)|glutathione S-transferase Mu 3|glutathione S-transferase, Mu-3|hGSTM3-3 protein-coding 1349886 GSTM3P glutathione S-transferase mu 3 pseudogene 170523 AL133325,NG_001040 GSTM3P|dJ984P4.2 pseudo 3003935 GSTM3P2 glutathione S-transferase mu 3 pseudogene 2 100421057 AC010093,NG_021533 pseudo 1606334 GSTM4 glutathione S-transferase mu 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq] 8349586,19343046,19336475,19151192,18977241,18551009,17601350,16854533,16344560,16169070,15489334,12477932,12140136,11508575,10905636,10587441,8889548,8471052,8373352,8284940,8276420,8203914,3174634,2006920,1530570,20485444,20529827,20628086,19913121,19584075,19718047,19856098,19898482,20200426,20237496 2948 M99421,M99422,NM_147148,NM_000850,NR_024538,AC000031,CH471122,M96233,X56837,X68677,AI949679,AK291880,BC015513,BC108729,BI458242,BI791533,BM673461,CR541869,CR613309,CR621776,DA895954,DQ062813,M96234 AAA58623,Q03013,Q4JNT8,ABM81584,ABM81585,ABM84765,NP_671489,NP_000841,EAW56402,EAW56403,EAW56404,EAW56405,AAA57346,CAA40167,CAA48637,BAF84569,AAH15513,AAI08730,CAG46667,AAY98515,AAA57347 Hs.348387 GSTM4-4|GTM4|MGC131945|MGC9247 GST class-mu 4|GST-Mu2|GTS-Mu2|S-(hydroxyalkyl)glutathione lyase M4|glutathione S-alkyltransferase M4|glutathione S-aralkyltransferase M4|glutathione S-aryltransferase M4|glutathione S-transferase M4|glutathione S-transferase Mu 4 protein-coding 1343128 GSTM5 glutathione S-transferase mu 5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq] 1580863 8473333,19343046,19336475,19151192,18977241,18551009,17601350,16344560,15489334,14702039,12477932,11684093,9452477,9230131,8317488,20485444,19856098,20200426,20237496,17207965,20819778 2949 NM_000851,AC000032,AL158847,CH471122,AK125820,AK127250,AK289673,AK315260,BC058881,BI824480,BX281326,DB089682,L02321 NP_000842,CAI22578,CAI22579,CAI22580,EAW56407,EAW56408,BAC86900,BAF82362,BAG37677,AAH58881,AAA20040,P46439,Q5T8Q9,Q5T8R1,Q5T8R2,Q6ZSP8,ADQ32648 Hs.75652 GSTM5-5|GTM5 GST class-mu 5|S-(hydroxyalkyl)glutathione lyase M5|glutathione S-alkyltransferase M5|glutathione S-aralkyltransferase M5|glutathione S-aryltransferase M5|glutathione S-transferase M5|glutathione S-transferase Mu 5 protein-coding 1345331 GSTO1 glutathione S-transferase omega 1 This gene encodes a member of the theta class glutathione S-transferase-like (GSTTL) protein family. In mouse, the encoded protein acts as a small stress response protein, likely involved in cellular redox homeostasis. [provided by RefSeq] 1580863 10783391,19513904,19152805,19148497,18986335,18977241,18941778,18799873,18720901,18571971,18449862,18427999,18414634,18414193,18400112,18216717,18186040,18065725,17717316,17637926,17617905,17601350,17548696,17158763,16169070,15992993,15917099,15901998,15623683,15489334,15164054,15159516,15040808,14570706,12928150,12618591,12565892,12477932,11457926,11271497,9988762,9786866,8076819,17450230,17194543,21094982,20800603,19913121,20628086,20670920,20818931,17484623,15146197,17213182,8889548,16385451,19624857,19635583,19686770,19859803,19914269,20106899,20200426,20210239,20237496,20367187,20374258,20472488,20532380,20547570,20113212,20562859 9446 NG_023362,NM_004832,AL139341,AY817669,CH471066,AF212303,AK313680,BC000127,BX537431,U90313,CA431506,CF130513,CN283947,DB501888,DT220068,NM_001191002,NM_001191003 NP_004823,CAI17224,CAI17225,CAI17226,AAV68046,EAW49601,EAW49602,EAW49603,EAW49604,AAF73376,BAG36430,AAH00127,CAD97673,AAB70109,P78417,Q5TA02,NP_001177931,NP_001177932 Hs.190028 DKFZp686H13163|GSTTLp28|P28 GSTO-1|OTTHUMP00000020430|OTTHUMP00000020431|glutathione S-transferase omega 1-1|glutathione S-transferase omega-1|glutathione transferase omega 1|glutathione-S-transferase like protein-coding 1321858 GSTO2 glutathione S-transferase omega 2 The omega class glutathione transferases (GST; EC 2.5.1.18) have poor activity with common GST substrates, but exhibit novel glutathione-dependent thioltransferase, dehydroascorbate reductase, and monomethylarsonate reductase activities, and they modulate Ca(2+) release by ryanodine receptors (e.g., RYR1, MIM 180901) (Whitbread et al., 2003 [PubMed 12618591]). For background information on GSTs, see MIM 605482.[supplied by OMIM] 1358120 20800603,17207965,17194543,19513904,19430957,19152805,18986335,18977241,18941778,18427999,18414634,18398695,18065725,17978102,17601350,17505575,16788846,16761626,15992993,15942673,15917099,15489334,15164054,15159516,15040808,12618591,12477932,20547570,8889548,19913121,20628086,16385451,19635583,19686770,19731014,19914269,20200426,20210239,20367187,20374258,20379614,20472488,21094982,19859803,20113212,20045512 1358120 119391 NM_183239,AL139341,AL162742,CH471066,AK291886,AK296266,AK297522,AK300508,AY191318,AY209189,AY350731,BC023583,BC046194,BC056918,BM708208,DC341647,NM_001191013,NM_001191014,NM_001191015,NG_023363 ADQ32540,EAW49598,NP_899062,CAC16040,CAI12107,EAW49599,EAW49600,BAF84575,BAG58978,BAG59926,BAG62221,AAO23573,AAP47743,AAR02452,AAH56918,Q5JU15,Q9H4Y5,NP_001177942,NP_001177943,NP_001177944 Hs.203634 bA127L20.1 GSTO-2|OTTHUMP00000020440|OTTHUMP00000020441|bA127L20.1 (novel glutathione-S-transferase)|glutathione S-transferase omega-2|glutathione-S-transferase-like protein protein-coding 1347598 GSTO3P1 glutathione S-transferase omega 3 pseudogene 1 12618591 344813 NG_005668,AC097105 GSTO3P1 pseudo 732257 GSTP1 glutathione S-transferase pi 1 Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq] 1357965,1641942,1358669,1331525,737707,1580863,4142524,4142515,4142523,4140935,4140942,4140944,2317823,4140946,4140948,4140949,4140950,2317805,4140947,4142520,4142527,2317804,2317808,2317806,2317809,4140945,4142517,4142522,4140940,4142514,2317811,4142525,4142526,4140951,4140938,4142516,4142519,4142521,2317198 20668305,20140262,20701904,20723587,20734048,20800603,20802378,20824655,20827430,20836743,20840864,20843117,20843134,20845989,20847076,20850372,20854097,20858151,20878130,20922139,20935060,20951227,20966642,20970553,20977336,20979931,21029695,21048041,21051083,21057378,21072184,21079113,20606036,20470393,17445471,20470789,20471030,2327795,1991033,1885604,1880950,1522586,14499622,11433346,15765097,19643173,19635899,19621425,19618282,19595155,19590686,19584821,19575027,19564823,19546880,19538885,19533864,19527514,19521675,19515364,19506726,19504558,19498054,19498008,19491810,19486347,19484507,19473562,19470943,19469640,19454503,19443378,19424794,19424636,19406142,19403501,19401526,19396019,19395695,19391035,19383894,19383368,19379515,19376514,19362955,19357030,19347979,19343046,19339270,19338043,19332728,19303595,19282111,19267064,19265530,19264973,19258736,19256768,19247692,19247656,19240225,19223573,19222528,9802272,19643601,19219857,19203783,19190172,19183974,19179423,19177501,19174490,19169061,19159663,19157859,19157724,19143011,19131562,19124514,19114965,19111454,19102379,19098406,19084393,19076156,19074885,19074750,19062541,19057715,19057702,19051221,19032232,19031960,19027952,19027876,19019335,19017876,19009239,19006072,19005482,18993042,18992148,18990742,18990698,18988661,18979064,18977241,18976645,18962899,18950799,18930278,18854779,18854777,18851872,18818748,18797464,18797455,18796433,18784548,18784359,18776599,18768784,18768509,18720901,18712057,18709160,18691570,18690546,18683505,18665932,18644106,18642288,18641537,18635758,18632608,18618215,18604726,18604713,18603015,18601742,18594869,18590468,18584351,18580952,18574688,18572765,18569592,18569591,18569587,18569579,18560528,18559562,18559526,18550614,18550589,18544563,18542066,18540691,18524839,18521819,18510611,18509181,18507060,18505928,18505590,18496131,18495522,18493876,18492019,18472644,18453734,18449862,18449058,18447907,18430527,18430179,18425393,18425080,18415801,18413363,18413200,18411704,18385010,18384787,18374411,18365908,18365755,18351395,18335111,18328165,18327668,18326615,18298341,18288203,18280004,18269668,18267032,18258609,18240903,18215156,18214047,18204928,18204073,18203021,18199464,18188076,18177897,18162130,18161889,18159215,18095031,18093316,18086266,18085999,18080216,18067039,18066575,18065725,18061666,18058812,18058229,18057098,18035380,17980933,17980001,17964545,17960617,17925548,17922436,17922231,17916905,17916600,17914442,17912498,17892615,17886251,17885617,17823364,17764884,17716224,17711870,17707637,17696749,17696741,17693660,17690329,17686149,17683074,17665167,17652311,17651144,17646057,17644396,17643058,17642299,17631926,17624589,17619844,17617661,17617021,17608547,17601350,17593927,17593093,17588204,17584018,17565746,17560037,17551301,17548864,17548691,17536768,17532303,17513610,17512053,17508968,17508213,17507624,17505575,17502835,17498780,17497028,17479284,17479278,17476458,17476281,17469025,17454600,17453001,17449559,17439673,17431481,17428724,17428572,17424838,17418613,17416773,17416769,17415778,17412371,17409981,17409936,17409824,17404745,17404387,17404132,17403528,17401013,17374652,17372252,17369149,17365145,17363767,17363580,17342328,17336217,17333241,17301692,17296590,17291695,17291352,17290392,17284320,17277236,17265526,17250723,17234469,17228018,17217536,17206640,17197702,17195228,17194543,17191090,17190945,17181111,17180579,17179690,17179680,17167268,17160265,17159790,17158763,17158087,17133316,16295782,16284498,16282887,16272961,16240451,16236267,16235992,16235991,16199080,16195240,16176403,16173971,16173036,16169070,16164441,16162701,16157826,16157195,16147638,16125881,16112301,16109392,16098500,16097394,16079101,16047490,16043197,16039055,16030123,16030117,16027873,16020292,16006997,16005379,16000570,15999103,15952740,15952134,15940757,15938845,15934438,15932063,15928955,15927971,15923250,15900595,15900216,15896461,15891640,15888825,15878920,15864623,17113562,17108810,17084623,17083362,17071629,17069592,17067754,17064856,17059341,17035385,17034008,17029404,17023730,17022435,16998606,17123660,17119046,16995867,16985032,16985026,16977512,16973168,16933328,16927413,16923217,16921513,16914185,16893516,16886896,16882827,16875718,16870661,16870093,16869871,16865249,16839232,16837240,16829689,16791478,16788846,16788248,16771603,16765145,16760134,16740387,16707601,16672066,16638627,16631467,16622263,16621679,16618661,16615268,16614120,16614106,16599007,16597834,16531839,16509765,16496253,16492918,16488119,16484137,16478744,16459354,16456144,16425401,16401067,16395669,16369102,16365014,16361831,16353154,16342067,16338071,16328000,16322291,16317430,16316639,16297214,15862746,15851553,15849806,15845652,15837751,15832776,15829318,15808399,15805147,15801491,15788669,15788664,15780023,15770723,15746160,15738600,15736440,15734972,15729709,15725081,15717687,15717164,15693909,15668931,15668493,15661806,15649863,15642394,15640066,15638917,15637738,15616829,15612961,15585627,15565566,15546237,15544594,15542263,15538743,15533900,15531593,15528218,15527908,15526353,15525789,15499621,15489334,15488121,15479622,15473001,15471539,15466980,15459020,15382272,15375523,15365959,15355982,15355699,15352038,15347687,15342448,15341277,15339690,15334395,15328191,15319294,15309405,15298956,15288444,15256483,15254763,15246186,15231573,15226677,15215328,15213713,15195126,15192016,15184197,15182232,15177664,15161912,15161530,15159312,15159014,15131792,15125256,15122594,15120911,15120366,15115915,15111988,15105047,15102663,15095308,15093273,15080568,15069692,15069685,15069679,15066569,15061915,15047486,15006924,14991750,14963830,14751678,14748821,14740231,14735473,14732228,14726935,14726165,14724908,14719475,14719182,14714299,14714091,14693745,14693733,14678959,14676828,14665706,14642067,14634838,14628089,14623254,14607333,14534616,14521761,14501269,12943817,12928118,12926131,12926120,12883749,12883385,12879272,12871945,12871931,12854128,12835616,12827651,12818186,12814998,12794689,12791655,12789263,12787298,12781423,12775499,12759747,12753710,12746833,12736537,12725062,12718576,12717779,12716303,12711112,12691788,12670526,12665801,12660004,12646564,12640684,12632497,12631667,12589975,12579334,12563680,12548461,12937133,12543808,12540498,12536075,12524158,12518868,12500666,12497653,12485534,12485442,12478542,12477932,12473455,12443843,12440523,12439226,12435115,12419832,12414796,12397416,12376511,12376472,12360105,12359356,12297838,12241105,12210727,12204870,12189190,12175548,12172904,12172391,12153968,12153964,12148855,12139976,12127421,12112555,12112003,12091121,12072547,12063626,12036913,12029283,12019159,12010858,12010828,11994713,11967624,11960994,11956078,11948486,11943609,11927838,11912447,11906705,11895912,11862479,11844594,11809677,11796315,11788897,11783115,11773866,11757669,11751440,11751372,11740339,11727264,11726546,11700265,11692073,11686891,11562107,11553769,11550208,11535253,11535248,11535247,11511301,11470996,11434510,11408954,11408349,11406608,11389067,11307147,11303592,11291049,11279197,11196146,11191882,11186134,11186133,11169956,11159743,11131031,11097238,11086181,11081456,11059750,11045797,11044240,11040079,11013238,10856703,10493261,10441116,10413721,9973324,9485454,9407047,9398518,9351803,9245401,9150948,9092542,9012673,8433974,8340390,8188229,8175801,7587384,3979555,3864155,3664469,3395118,3196325,2625719,2542132,2468363,2466554,16636664,16130169,20338046,19913121,20156772,20529763,20529827,20530282,20554493,20568049,20568895,20577625,20592457,20597111,20608166,20628086,20634891,20644561,20656020,20661602,20661821,20661823,20663217,20670164,20672371,20674822,20688591,20728566,20731606,20739761,20740495,20805158,20673515,15323418,19254954,19568750,19571817,19580344,19636001,19661073,19692168,19696791,19696793,19701675,19701760,19705749,19710200,19738092,19741031,19741569,19748847,19750576,19760040,19778234,19780048,19786118,19786980,19789190,19799358,19800766,19811334,19818869,19822571,19826048,19826491,19842992,19850945,19850963,19856314,19858398,19892789,19895170,19896490,19899130,19903800,19912051,19914269,19915149,19917083,19921428,19922504,19923826,19933216,19933708,19940364,19947517,19948975,19953622,19956635,20017670,20029944,20032267,20032816,20041472,20047135,20047209,20047584,20049130,20049212,20056632,20069434,20082271,20091863,20100738,20110814,20117922,20131310,20136364,20170971,20173083,20180013,20187096,20190330,20194081,20197727,20200426,20207535,20210814,20214802,20216541,20232390,20233420,20237496,20303013,20308030,20331623,20331903,20367187,20368715,20375710,20377137,20381444,20385995,20387634,20391138,20391338,20395963,20409775,20430047,20437850,20453000,20459366,20459448,20459474,20459744,20461808,20467983,20472488,20478633,20480816,20481548,20499266,20501762,20505681,20514304,20525719,20526719,20526737,20540773,1540159 1357965,1641942,1358669,1331525,737707,4142524,4142515,4142523,4140935,4140942,4140944,2317823,4140946,4140948,4140949,4140950,2317805,4140947,4142520,4142527,2317804,2317808,2317806,2317809,4140945,4142517,4142522,4140940,4142514,2317811,4142525,4142526,4140951,4140938,4142516,4142519,4142521,2317198 2950 NG_012075,AP001184,AY324387,CH471076,M24485,U12472,U21689,X08058,X08094,AY579414,BC010915,BC044846,BT019949,BT019950,CA946272,CR450361,CR593425,CR596191,CR602934,CR604216,CR604255,CR609234,CR621327,GQ141553,GQ141554,U30897,U62589,X06547,X15480,NM_000852 NP_000843,AAP72967,EAW74648,EAW74649,EAW74650,AAA56823,AAA64919,AAC13869,CAA30847,CAA30894,AAH10915,AAV38752,AAV38753,CAG29357,ACT66687,ACT66688,AAC51280,AAC51237,CAA29794,CAA33508,P09211,ABM83664,ABM86911 Hs.523836 DFN7|FAEES3|GST3|GSTP|PI GST class-pi|GSTP1-1|deafness, X-linked 7|fatty acid ethyl ester synthase III|glutathione S-transferase P|glutathione S-transferase pi|glutathione s-transferase, pi 2 protein-coding 1343931 GSTPP glutathione S-transferase pi 1 pseudogene 1427860 2951 NG_004638,AC023055,X65032 GST3L|GSTP1P|GSTPL|GSTPP pseudo 736934 GSTT1 glutathione S-transferase theta 1 Glutathione S-transferase (GST) theta 1 (GSTT1) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1 and GSTT2. The GSTT1 and GSTT2 share 55% amino acid sequence identity and both of them were claimed to have an important role in human carcinogenesis. The GSTT1 gene is located approximately 50kb away from the GSTT2 gene. The GSTT1 and GSTT2 genes have a similar structure, being composed of five exons with identical exon/intron boundaries. [provided by RefSeq] 2293828,2293799,2293829,2293830,2306625,2306627,2306630,2306633,2293800,2293823,2293825,2306631,2293845,704404,1358120,1580863,4140939,4142539,4140924,4140928,4142512,4140932,4140921,4142518 18463401,18461673,18455004,18449862,18449058,18447907,18444911,18443805,18425393,18416133,18415801,18414197,18413200,18409821,18398695,18397238,18394656,18392488,18387669,18385010,18365908,18365755,18334963,18328165,18327668,18325667,18320229,18308775,18305556,18303971,18300949,18298341,18287869,18285692,18280004,18254710,18242955,18224491,18214047,18207572,18203021,18199464,18197300,18186040,18177825,18163994,18162130,18161889,18155166,18097510,18094897,18093316,18090121,18080216,18078203,18074677,18070799,18067039,18066575,18065725,18061941,18061666,18058229,18057098,18056202,18035413,18035380,17996038,17985662,17980001,17979505,17965781,17953974,17937745,17922436,17919612,17916905,17916600,17914442,17912498,17896209,17885617,17880951,17880378,17296590,17291352,17290402,17290392,17284320,17265526,17228018,17221058,17217536,17206640,17195228,17194620,17194543,17191090,17182005,17180579,17178637,17167268,17164366,17160896,17160315,17158763,17158087,17140374,17123660,17119198,17119046,17118447,17084623,17083362,17078101,17072629,17071629,17069592,17064856,17059341,17034008,17026750,17022435,17020091,17016589,17005168,17000715,16998606,16995867,16985033,16977512,16977343,16973661,16973168,16939958,16938565,16927413,16923217,16921513,16914185,16911024,16906563,16898590,16886896,16884947,16874663,19017460,19012698,19009239,19005482,18993042,18992148,18990750,18990742,18986377,18979064,18977241,18976645,18952980,18950733,18850183,18840420,18839526,18836923,18834935,18818748,18816171,18779738,18778871,18774560,18768784,18768514,18768509,18760837,18725054,18720901,18713495,18706519,18698632,18690546,18683505,18666559,18666253,18645668,18642288,18642130,18641537,18630481,18630123,18628429,18618215,18610829,18608187,18601742,18597073,18594869,18593984,18591888,18590468,18589596,18583868,18581889,18580952,18577398,18574688,18573513,18572765,18569591,18569587,18566013,18559562,18550589,18544910,18544563,18542066,18521819,18507060,18507050,18503826,18496134,18495522,18493876,18492019,18491076,18472644,17879833,17874314,17873299,17869325,17853809,17823442,17716707,17711870,17707637,17693660,17683074,17659824,17653748,17653713,17651144,17646057,17644396,17631926,17617661,17617021,17611777,17610937,17603900,17602170,17601350,17592232,17586054,17581325,17572208,17569254,17568619,17565746,17565649,17563610,17536768,17524385,17514530,17513527,17513317,17507624,17505575,17502835,17498780,17497028,17479278,17476458,17469025,17465707,17454600,17452905,17450230,17449559,17448506,17445838,17439673,17438538,17437619,17431481,17428724,17428572,17420047,17418613,17416773,17416769,17412371,17408703,17403528,17401013,17400324,17397002,17384900,17381051,17374652,17372252,17367411,17365577,17363580,17361553,17342328,17340208,17336217,17333241,17330842,17318627,17318621,17307803,17307802,17301692,15866612,15864623,15862746,15861041,15849806,15845652,15840612,15838728,15832776,15829318,15805147,15801491,15801482,15790417,15777500,15777499,15770723,15764300,16720291,16707601,16703596,16702390,16697254,16676594,16638627,16631467,16624155,16622263,16621679,16620591,16620556,16620396,16618661,16615268,16614120,16614106,16611538,16599007,16596290,16574194,16567317,16551674,16550944,16536303,16535827,16535824,16531839,16523188,16521944,16520888,16517545,16509765,16507781,16504378,16501997,16496253,16493615,16484137,16475728,16471212,16466991,16459354,16438295,16427734,16424825,16415899,16413497,16409207,16406813,16393248,16390810,16386599,16380991,16361831,16360200,16357600,16357593,16353154,16341674,16338071,16321221,16318999,16316639,16314088,16308270,16298388,16291859,16284498,16283344,16282887,16235998,16235982,16228113,16227674,16214926,16199080,16195240,16173971,16173036,16164441,16160620,16135950,16132793,16125881,16124895,16112301,16098500,16097394,16091114,16079101,16051638,16049806,16047490,16043197,16030123,16030117,16027873,16020292,16009381,16005379,16002077,16000570,15991278,15981231,15974302,15953982,15952134,15940757,15934438,15932176,15932063,15928955,15927971,15923250,15916660,15914277,15914211,15901999,15900216,15894422,15891640,15878757,15870154,15866637,16721740,16870093,16869871,16865249,16864595,16847185,16839232,16837240,16830058,16829689,16823842,16798650,16788846,16788422,16788248,16771603,16765145,16763966,16760134,16740387,16734729,15633230,15627678,15616829,15612961,15588859,15582598,15579657,15570292,15565566,15559321,15548945,15546237,15538046,15536330,15533900,15531593,15528218,15526353,15525789,15499621,15492856,15489334,15478298,15475730,15474467,15473001,15472409,15468052,15461802,15459223,15459020,15455371,15450429,15382273,15764294,15756908,15748501,15747169,15746160,15738600,15736440,15734972,15734960,15734083,15725614,15725081,15721419,15719050,15717164,15714076,15694665,15688399,15688397,15668931,15668493,15667866,15661806,15661231,15646021,15642394,15640066,15639977,15638917,15637738,15634519,15382272,15368334,15365959,15365958,15355699,15352038,15342448,15339690,15338373,15334395,15333250,15327835,15319294,15315337,15309405,15302996,15300848,15298956,15288444,15284178,15279067,15273962,15258326,15256483,15256146,15246186,15226677,15223862,15219943,15215328,15213713,15206494,15202795,15199549,15197518,15195682,15195126,15194533,15194507,15192016,15184245,20686491,20701904,20723587,20734807,20812880,20824655,20842440,20843117,20845989,20847076,20850372,20853551,20854097,20855412,20878130,20878561,20884258,20890814,20922139,20935060,20942828,20951227,20954980,20957336,20966642,20970553,20977336,21037224,21038299,21045267,21051083,21053180,21058530,21075030,21079384,21086258,21089003,20647132,8198545,19643719,19643173,19640174,19635899,19629346,19621425,19618282,19610060,19589847,19589345,19564823,19555437,19548560,19538885,19537956,19528831,19527514,19521675,19515364,19506726,19504558,19491810,19484507,19481674,19473562,19469640,19469619,19440446,19430957,19424794,19419718,19407363,19401526,19399747,19394866,19391035,19383894,19380028,19376514,19362955,19347979,19338664,19336732,19336370,19332728,19317600,19307236,19303722,19303595,19287511,19286687,19270789,19267064,19265530,19258736,19253001,19252342,19244254,19223573,19222528,19209780,19203783,19190172,19183974,19177501,19174490,19169061,19157724,19151739,19148781,19147266,19143011,19131562,19124514,19124497,19117770,19115684,19114965,19103108,19102712,19102379,19086569,19074750,19062541,19057715,19057702,19055448,19051221,19032232,19027952,19026998,19024313,14688020,14688016,14681495,14669454,14666648,14665706,14662420,14656945,14646292,14644396,14643449,14637136,14626895,14607752,14607333,14568289,14562023,14534704,14519756,14504370,12972061,12960134,12943165,12926131,12883749,12883385,12879272,12875700,12860276,12859033,12854128,12851839,12835615,12827651,12814998,12814450,12811412,12794689,12781423,12767525,12762073,12760253,12759747,12759104,12750240,12748560,12747608,12739102,12736537,12732844,12718704,12718576,12717779,12716303,12713578,12690010,12682546,12670526,12668919,12657030,12631667,12631536,12624497,12620480,12611461,12606593,12579490,12579334,12563680,12556960,12552997,1848757,12552971,12175548,12175533,12173466,12172927,12172391,12171760,12170467,12163326,12153968,12153964,12150456,12145701,12139735,12091121,12083949,12082022,12072547,12070010,12063626,12055050,12034316,12029283,12018173,12016165,12016153,12010862,12010828,11977425,11967624,11966948,11943609,11936216,11934439,11927838,11906705,11898621,11895912,11884241,11862323,11859435,11854392,11844594,11840286,11825664,11819818,11819562,11808883,11792413,11779261,11773866,11773864,11766168,11760815,11757669,11751442,11751440,11740339,11731429,11719393,11700265,11692073,11675474,11641039,11595069,11588132,11585745,11564581,11562107,11535253,11535248,11525595,11520401,11511301,11505167,11503278,11488937,11487538,11477481,11473392,11470996,11470992,11470760,11459424,11447041,11440964,11434510,11422615,11418090,11410321,11408954,11406608,11389067,11330960,11328408,11325850,11307147,11303592,11291049,11283827,11279306,11275366,11259393,11257276,11246217,11234415,11230469,11191882,11186134,11186133,11165755,11162685,11159743,11142418,11131031,11097350,11081456,11052546,11051261,11045782,11044240,11040079,10975610,10760690,10625170,10591208,10426791,9729470,9434735,8889548,8761485,8617495,8569364,12536075,12530094,12524158,12519635,12500684,12500666,12485442,12477932,12460800,12439221,12435115,12433731,12430181,12429337,12421502,12548461,12540498,12419832,12406553,12397416,12376511,12365037,12359356,12355548,12351375,12296511,12241105,12210502,12204870,12189190,12183419,15184197,15182232,15177667,15177664,15165083,15148962,15142875,15136237,15131792,15125229,15122594,15120911,15120366,15115915,15113959,15112335,15111988,15105047,15102663,15099925,15095308,15093273,15090724,15090717,15088107,15069692,15069685,15069679,15066574,15066569,15064808,15061915,15059587,15057507,15047486,15047208,15038404,15036125,15033463,15006924,15004652,14992466,14991750,14980314,14973092,14973088,14968442,14963830,14752874,14751678,14740231,14735473,14726165,14724908,14719475,14716779,14714091,14696128,14694720,14693745,14693733,19254865,19264525,19424928,19571817,19651439,19656722,19662515,19663315,19664521,19664997,19669596,19692168,19696793,19700502,19701675,19701760,19705749,19710200,19718946,19731014,19741031,19741569,19748847,19750077,19752172,19760040,19768671,19774638,19778234,19779959,19782926,19786118,19786980,19798506,19799150,19799358,19800766,19811334,19816935,19818869,19823950,19838709,19842992,19843381,19843669,19850945,19860557,19863340,19874347,19884712,19892789,19896490,19899130,19900941,19902106,19914269,19917083,19921428,19922706,19927646,19933708,19947517,19948975,19953622,19956635,19960261,19960570,19963114,20012094,20017670,20026093,20029178,20029944,20032267,20032816,20036620,20042523,20049130,20049212,20049629,20056207,20056567,20056632,20061204,20063011,20069434,20073549,20074657,20083259,20088379,20091863,20093049,20095411,20097269,20100551,20109103,20110814,20120433,20130515,20131310,20134034,20136364,20177288,20187096,20190330,20194072,20194081,20197727,20200426,20203006,20207535,20214911,20216541,20226777,20297661,20300859,20303013,20306695,20331623,20335620,20354063,20357201,20359083,20367187,20368715,20370484,20373852,20375710,20377137,20381444,20385995,20390895,20391126,20391138,20391338,20401725,20402821,20409775,20426969,20430047,20437058,20444272,20459366,20459474,20459744,20461808,20464961,20472488,20484876,20488846,20495862,20501762,20505681,20514077,20517701,20521623,20534171,20540773,20542754,8799324,9307035,19576039,20156772,20301895,20529827,20547701,20554493,20561699,20563767,20563854,20568049,20568895,20574021,20577141,20577625,20597111,20599479,20608166,20610557,20621079,20634891,20637790,20638463,20644561,20656020,20656381,20658008,20661602,20661821,20661823,20663906,20670164,20672314,20672371,20674986,20675267,20676536,20683151,20688591,20705574,20708344,20728566,20731606,20739761,20740495,20802377,20805158,20817763 2293828,2293799,2293829,2293830,2306625,2306627,2306630,2306633,2293800,2293823,2293825,2306631,2293845,1358120,4140939,4142539,4140924,4140928,4142512,4140932,4140921,4142518 2952 NM_000853,AB057594,AF240786,AP000351,CH471095,Z84718,AF435971,AJ867757,AJ874719,BC007065,BC050410,BM765626,BT019951,CA313466,CR456499,CR597354,CR599021,CR602213,CR622903,X79389 NP_000844,BAB39498,AAG02374,EAW59629,EAW59630,EAW59631,EAW59632,EAW59633,EAW59634,EAW59635,AAL31549,CAI30331,CAI44003,AAH07065,AAV38754,CAG30385,CAA55935,P30711,Q4GZS9,Q4W252,Q6IC69,CAK54527,CAK54826,ABM84406,ABM87756 Hs.268573,Hs.720100 GST class-theta-1|OTTHUMP00000198549|glutathione S-transferase theta-1|glutathione s-transferase, theta 1|glutathione transferase T1-1 protein-coding 1349485 GSTT2 glutathione S-transferase theta 2 Glutathione S-transferase (GSTs) theta 2 (GSTT2) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: Alpha, Mu, Pi, Theta, and Zeta. The theta class members GSTT1 and GSTT2 share 55% amino acid sequence identity and both are thought to have an important role in human carcinogenesis. The theta genes have a similar structure, being composed of five exons with identical exon/intron boundaries. [provided by RefSeq] 1580863 7789971,18029348,19339270,19019335,18977241,18449862,18268125,18258609,18186040,17250773,16006997,15654505,15489334,15461802,12871945,12477932,11181995,10975610,10760690,10591208,10426791,9729470,9551553,9037717,8889548,8761485,8617495,8617493,1417752,19528963,19582785,19696791,19751749,19860743,20200426,20437850 2953 NM_000854,AF057172,AF057173,AF057174,AF057176,AF240786,AP000351,CH471095,AA682380,AK312043,BC002415,BC146929,BC146940,BC146943,BM976631,BU584249,CR456374,CR456500,CR456929,CR590685,CR601749,CR612277,L38503 NP_000845,AAC13317,AAG02373,EAW59625,EAW59626,BAG34980,AAH02415,AAI46930,AAI46941,AAI46944,CAG30260,CAG30386,CAG33210,AAB63956,Q6IB75,Q6ICJ4,CAK54510,CAK54528,CAK54809,CAK54827,ABM81668,P0CG29,P0CG30 Hs.654462 GSTT2B|MGC182032 GST class-theta-2|Glutathione S-transferase theta-2B|glutathione S-transferase theta-2 protein-coding 1625818 GSTT2B glutathione S-transferase theta 2B (gene/pseudogene) 19424424,12477932,11181995,9729470,7789971 653689 NM_001080843,AF057175,AF240786,AP000350,AP000351,BC071700,BC146936 NP_001074312,AAH71700,AAI46937 Hs.656498 GSTT2P|MGC87963 glutathione S-transferase theta 2|glutathione S-transferase theta 2B protein-coding 1602006 GSTTP1 glutathione S-transferase theta pseudogene 1 12477932 25774 NR_003081,AP000351,CH471095,AL050257,BC096726,BC098108,BC098364,BC099710 EAW59627,CAB43359 Hs.652490 HS322B1A|MGC119755|MGC119756 pseudo 1641970 GSTTP2 glutathione S-transferase theta pseudogene 2 653399 NR_003082,AP000351,AK127991 Hs.652398 FLJ46109 pseudo 1352057 GSTZ1 glutathione transferase zeta 1 This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme also plays a significant role in the catabolism of phenylalanine and tyrosine. Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq] 1580863 17207965,9396740,11327815,10373324,17474147,9417084,19343046,19074885,18977241,18776599,18676680,18628685,18373941,17601350,17034008,16609361,16189514,15489334,15288444,15173170,14702039,12508121,12485442,12477932,11737895,11692075,11640913,10739172,9925947,9815194,9531472,15889141,18029348,19170196,19625176,19692168,19859803,20200426,20201926,20214911,20453000,20675267 2954 NM_145871,NM_001513,AC007954,AF053545,AF098318,AY316305,CH471061,AB209360,AJ001838,AK094344,AK309054,AK315154,AK315609,BC001453,BC052245,NM_145870,BE958109,BG330365,BG772450,BI559916,BI829992,CR456987,CR609385,CR613546,CR622694,CR624227,U86529 NP_665877,NP_665878,NP_001504,AAF62559,AAC33591,AAD43007,AAP69526,EAW81278,EAW81279,EAW81280,EAW81281,BAD92597,CAA05045,BAG37600,BAG37978,AAH01453,ADQ33195,CAG33268,AAB96392,O43708,Q59FU9 Hs.655292 GSTZ1-1|MAAI|MAI|MGC2029 S-(hydroxyalkyl)glutathione lyase|glutathione S-alkyltransferase|glutathione S-aralkyltransferase|glutathione S-aryltransferase|glutathione s-transferase Zeta 1|maleylacetoacetate isomerase|maleylacetone isomerase protein-coding 1320681 GSX1 GS homeobox 1 1580863 11731616,18951430,15057823,19460469 219409 NM_145657,AB044158,AL390738,CH471075,AB044157 NP_663632,BAB78693,CAC12721,EAX08418,BAB78692,Q9H4S2,AAI60140 Hs.351785 GSH1|Gsh-1 GS homeo box protein 1|GS homeobox 1|genomic screened homeo box 1|homeobox protein Gsh-1 protein-coding 1602642 GSX2 GS homeobox 2 15489334,12477932,12205114,11861295,17474147,19709628 170825 AB028838,AI360912,BC075089,BC075090,EU596451,NM_133267,AC110298,AF306344,AF439445,CH471057 EAX05456,BAB84822,AAH75089,AAH75090,ACC61188,Q9BZM3,ABZ92381,NP_573574,AAK00880,AAM08285 Hs.371899 GSH2 GS homeobox 2|OTTHUMP00000218644|homeobox protein GSH-2 protein-coding 1346537 GTA galactosyltransferase activator 1580863 3097639 2955 M14624 AAA35488,Q13540 GGTB1 protein-coding 1354274 GTDC1 glycosyltransferase-like domain containing 1 15068588,14702039,12477932,19826048,20379614 79712 NM_001006636,AC009957,AC010681,AC016910,CH471058,AB112440,AB201269,AF090899,AK021815,AK091684,AK291357,AY281366,NM_024659,BC017741,BC061699,BX647436,BX647773,AC010130,AF086278,AK126774,NM_001164629 NP_078935,NP_001006637,AAX93056,AAX93131,AAY14764,EAX11579,EAX11580,EAX11581,EAX11582,EAX11583,EAX11584,EAX11585,BAE16560,AAF24023,BAB13904,BAF84046,AAQ16408,AAH17741,AAH61699,Q4AE62,Q9UI81,NP_001158101 Hs.44780,Hs.724028,Hs.724213 FLJ44822|mat-Xa OTTHUMP00000162654|OTTHUMP00000204553|OTTHUMP00000204554|OTTHUMP00000204555|glycosyltransferase-like 1|glycosyltransferase-like domain-containing protein 1|mannosyltransferase candidate protein-coding 733620 GTF2A1 general transcription factor IIA, 1, 19/37kDa 1580863 12972251,12538582,12508121,12477932,12054857,11564872,11509574,11340159,11278496,10570139,10454579,10364255,9812988,9618479,9603936,8889548,8577725,8224848,7958900,7958899,7724559,1876184,8849451,8764062,10567404,17353931,15601843,19235719,19336002,20936779,8224850,8006019,9405375,8946909,18029348,1939271,2449431,17681538,17596959,17081983,16537915,15489334,15257296,14702039,14570910,17643375,18950845,19724865,8626665,9880542 2957 NM_201595,NM_015859,AC010582,AL136040,CH471061,AK021641,BC050703,BC107155,BC107156,BX493028,CB240876,CR617713,D14886,D14887,X75383,X77225 NP_963889,NP_056943,AAF26776,EAW81334,EAW81335,AAI07156,AAI07157,BAA03603,BAA03604,CAA53151,CAA53152,CAA54442,P52655,ABZ92147,ABZ92422 Hs.592334,Hs.593630 MGC129969|MGC129970|TF2A1|TFIIA TFIIA alpha, p55, isoform 1|TFIIA-42|TFIIAL|general transcription factor 2a, 1|general transcription factor IIA subunit 1|glucose regulated protein, 58kD pseudogene|transcription initiation factor IIA subunit 1|transcription initiation factor TFIIA 42 kDa subunit protein-coding 1602495 GTF2A1L general transcription factor IIA, 1-like The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of TFIIA on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq] 11329013,20211142,21151128,10364255,16966320,16646664,16525715,15489334,12477932,12107178,11889132,11784080,11159353,9482861,9373149,8759016,8125298,20379614 11036 BG207854,NM_001193487,NM_006872,AC073082,AC087816,CH471053,AF106857,AI037906,AK223350,AK302220,BC025991,BC064585,BG717289 NP_001180416,NP_006863,EAX00193,EAX00194,AAD39634,BAD97070,BAG63576,AAH25991,AAH64585,Q53FD9,Q5D050,Q9UNN4,ABM82492,ABM85682 Hs.44385 ALF|MGC26254 GTF2A1-like factor|OTTHUMP00000159452|OTTHUMP00000200508|OTTHUMP00000201165|OTTHUMP00000201180|TFIIA alpha/beta like factor|TFIIA large subunit isoform ALF|TFIIA-alpha and beta-like factor|TFIIA-alpha/beta-like factor|general transcription factor II A, 1-like factor protein-coding 737167 GTF2A2 general transcription factor IIA, 2, 12kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM] 1580863 9405375,8946909,1939271,2449431,15489334,14570910,12477932,12107178,11564872,11509574,11340159,11005381,10570139,10567404,10364255,9603936,8849451,8764062,8577725,8224850,8224848,17353931,7724559,8626665,7958900,7958899,17643375 2958 NM_004492,AC092755,CH471082,AK312015,BC000287,BC001919,BT007362,CR542192,U14193,U21242,X81713 EAW77574,NP_004483,EAW77573,BAG34953,AAH00287,AAH01919,AAP36026,CAG46989,AAA64951,AAB58247,CAA57357,P52657,ABM82171,ABM85357 Hs.512934 HsT18745|TF2A2|TFIIA OTTHUMP00000196512|TFIIA p12 subunit|TFIIA-12|TFIIA-gamma|TFIIAS|general transcription factor IIA subunit 2|general transcription factor iia, 2 (12kd subunit)|transcription initiation factor IIA gamma chain|transcription initiation factor IIA subunit 2 protein-coding 731364 GTF2B general transcription factor IIB This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq] 1580863 19235719,7848298,7757816,7707528,7707527,7706261,7675079,7651839,7641693,7609079,7608968,7597030,1946368,1876184,1517211,15353294,15265780,15142377,9159119,9089417,9305922,11416169,9295363,9315662,11864601,11782371,12660246,15710329,8621548,20226668,7671313,8006019,15207693,9405375,8946909,1939271,2449431,19193635,18768974,16878124,16710414,16595664,15989968,15635413,15489334,15342556,15249124,15037660,15024075,14963322,14641108,14612417,14585974,12972613,12931194,12791683,12665589,12578358,12535529,12529369,12477932,12392551,12167624,11959865,11149922,11118327,11113176,11080476,11045620,11029584,11005381,10704334,10478848,10409729,10359081,10220372,9892017,9874563,9841876,9812988,9765293,9765201,9722567,9292011,9267036,9121429,9058380,8889549,8870495,8849451,8800208,8754792,8662660,8598193,8566795,8413269,8162052,7913207,16449650,20880846,10330164,10449590,10756192,15013781,15604728,17643375,19590095,8414971,8524305 2959 NM_001514,AL445991,CH471097,AA031701,AB451296,AI457606,AK289822,BC020597,BP379342,CR590496,CR592227,CR598774,CR600115,CR619060,F07886,M76766,S44184 NP_001505,CAI41341,CAI41342,CAI41343,EAW73159,EAW73160,BAG70110,BAF82511,AAH20597,AAA61149,AAB23144,Q00403,ABZ92423 Hs.481852 TF2B|TFIIB OTTHUMP00000012348|OTTHUMP00000012349|RNA polymerase II transcription factor IIB|S300-II|general transcription factor TFIIB|transcription initiation factor IIB protein-coding 1315703 GTF2E1 general transcription factor IIE, polypeptide 1, alpha 56kDa 1580863 7926747,9405375,8946909,1956398,1939271,2449431,18354501,18160537,16344560,15385556,12665589,12477932,11509574,11416139,11113176,10827951,9765293,9677423,9632676,9418848,9373149,9305922,9121429,9054383,8934526,8849451,8162052,8152490,8125298,7829083,7667268,7651391,3029109,2251258,2026628,1956403,1454543,9159119,16547462,17643375,18950845,9271120,19106100 2960 NM_005513,AC117472,CH471052,AK223401,BC005917,DA498425,S67859,X63468 NP_005504,EAW79519,BAD97121,AAH05917,AAB20413,CAA45068,P29083,Q05DN6,Q53F88,AAI56225,AAI56998 Hs.445272 FE|TF2E1|TFIIE-A TFIIE-alpha|general transcription factor IIE 56 kDa subunit|general transcription factor IIE subunit 1|transcription initiation factor IIE subunit alpha protein-coding 1320859 GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa 1580863 19106100,9271120,7926747,8999876,9405375,8946909,1956398,1939271,2449431,19210545,15489334,12665589,12477932,11509574,11416139,11113176,10827951,10792464,10777215,9677423,9618479,9418848,9121429,9089417,9054383,8934526,8849451,8786118,8152490,7876263,7651391,3029109,2251258,2026628,1956404,8628277,16547462,17643375,19861958,20125193 2961 NM_002095,AC102945,AC103959,AF292062,CH471080,BC001775,BC030572,CR594329,CR606311,CR606679,CR611388,CR626793,S67861,X63469 NP_002086,AAG39077,EAW63446,EAW63447,EAW63448,EAW63449,AAH30572,AAB20414,CAA45069,P29084 Hs.77100 FE|TF2E2|TFIIE-B TFIIE-beta|general transcription factor IIE subunit 2|transcription initiation factor IIE subunit beta protein-coding 1343690 GTF2F1 general transcription factor IIF, polypeptide 1, 74kDa 1580863 7854423,7590250,7667268,9405375,12226669,8946909,1734284,1939271,2449431,9409616,9512541,9790902,12676794,1734283,19215094,18950845,18284209,17848138,17081983,16964243,16905668,16097034,16083285,15831464,15635413,15489334,15351637,15023052,12732728,12721286,12591941,12578358,12477932,12354769,12351650,11509574,11248041,11183778,11118325,11113176,10777215,10704353,10567562,10454543,10428810,9765293,9765201,9677423,9660973,9265625,9238003,9121429,8934526,9858607,9482861,11118327,10490622,9089417,8628277,9159119,7926747,8794892,9315662,9305922,16169070,9710619,15893730,18029348,20211142,8849451,8755740,8662660,8625415,8486367,8441635,8106390,7566098,1559613,12775419,12089333,15723517,16548883,16878124,17137291,17643375,7890767 2962 NM_002096,AC011491,CH471139,AA323384,AK293124,AK302178,AK315240,BC000120,BC013007,BT007097,CR456798,X64002,X64037 NP_002087,EAW69098,EAW69099,BAG56676,BAG63544,BAG37667,AAH00120,AAH13007,AAP35761,CAG33079,CAA45404,CAA45408,P35269,Q6IBK5,ABM92214,ABM84692 Hs.68257 BTF4|RAP74|TF2F1|TFIIF TFIIF-alpha|general transcription factor IIF 74 kDa subunit|general transcription factor IIF subunit 1|transcription initiation factor IIF subunit alpha|transcription initiation factor RAP74 protein-coding 733447 GTF2F2 general transcription factor IIF, polypeptide 2, 30kDa 1580863 7929273,9405375,12226669,8946909,18029348,1939271,2449431,9409616,9512541,9790902,12676794,19215094,16344560,16169872,16083285,15635413,15489334,14612417,12737519,12477932,11278533,11113176,10704353,10523626,10454543,9765201,9689043,9677423,9295363,9265625,9238003,9121429,9089417,8934526,8849451,8794892,8758937,8662660,8628277,8577725,8441635,8162052,3860504,2477704,1840667,1559613,12775419,12089333,7926747,9305922,16878124,17643375,16712791 2963 NM_004128,AL138693,AL138963,CH471075,AK291545,BC001771,BT019525,CA429230,CB124466,CR598374,CR609785,DB252856,X16901,X59745 NP_004119,CAH72459,CAH72032,EAX08726,EAX08727,EAX08728,EAX08729,BAF84234,AAH01771,AAV38332,CAA34775,CAA42419,P13984,ACE87412,ACE86726 Hs.654582 BTF4|RAP30|TF2F2|TFIIF ATP-dependent helicase GTF2F2|TFIIF-beta|general transcription factor IIF 30 kDa subunit|general transcription factor IIF subunit 2|transcription initiation factor IIF subunit beta|transcription initiation factor RAP30 protein-coding 1347219 GTF2F2L general transcription factor IIF, polypeptide 2-like 14506279,12370301,9847074,7835093 2964 NG_003013,AC093908 GTF2F2L|TFIIF pseudo 4145165 GTF2F2P2 general transcription factor IIF, polypeptide 2 pseudogene 2 728633 AL031289,NG_022719 pseudo 1317878 GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa 1580863 7533895,9118947,8652557,9405375,10583946,8692841,8946909,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,18692935,18270339,15909982,15625236,15489334,15220921,14702039,14569024,12665589,12477932,12453423,12392551,12379213,11266437,11259578,11239393,11118327,11113176,11071939,10949034,10866664,10777215,10734143,10734072,10490622,10467411,10438593,10428966,10082552,10066804,9837719,9774388,9765293,9765201,9710619,9698541,9651670,9630526,9570510,9334327,9311822,9184228,9130708,9121429,9054383,8934526,8849451,8692842,8628270,8194528,14500720,8162052,7789978,7724549,7935417,1529339,16169070,11062469,17643375,20522537,8152490,8521393,9305922,9852112,20211142,21124955,20974803,20677014 2965 AAB23294 AI275181,AK027003,AK127204,AK299621,AK299730,AK312974,BC000365,BC004452,CR457368,CR600783,M95809,NM_005316,NM_001142307,AC084117,AJ131959,AY163770,CH471064 EAW68400,EAW68401,BAB15621,BAG54452,BAG61549,BAG61628,BAG35811,AAH00365,AAH04452,CAG33649,AAA58399,AAB23294,P32780,ABM82334,ABM85510,NP_005307,NP_001135779,CAC00685,AAN46740,EAW68399 Hs.577202 BTF2|TFB1|TFIIH BTF2 p62|TFIIH basal transcription factor complex p62 subunit|basic transcription factor 2 62 kDa subunit|general transcription factor IIH polypeptide 1|general transcription factor IIH subunit 1 protein-coding 1321435 GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq] 1580863 8652557,8194529,9405375,10583946,8946909,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,19154529,17332483,15790571,15635413,15489334,15220921,14980221,14569024,12477932,12080057,11319235,10866664,10438593,10082552,10066804,9771713,9765201,9651670,9570510,9503025,9334327,9311822,9184228,9130708,9121429,9118947,9063743,17207965,9054383,8981949,8934526,8870499,8849451,8692842,8692841,8628270,7664335,7552146,11062469,11445587,15775968,17438371,17643375,9852112 2966 AK296578,NM_001515,AC044797,AC142525,U80017,AF078847,BC005345,BG283896,BM083743,BT006773,U21910,U21911,Z30094 ADQ32613,BAG59198,NP_001506,AAC52046,AAD44479,AAH05345,AAP35419,AAA64503,AAA64502,CAA82910,Q13888,Q86U80,AAI40304,AAI41604 Hs.191356,Hs.655216 BTF2|BTF2P44|MGC102806|T-BTF2P44|TFIIH BTF2 p44|TFIIH basal transcription factor complex p44 subunit|basic transcription factor 2 44 kDa subunit|general transcription factor IIH polypeptide 2|general transcription factor IIH subunit 2|general transcription factor IIH, polypeptide 2, 44kD subunit protein-coding 2298824 GTF2H2B general transcription factor IIH, polypeptide 2B 14702039,12477932,15252450 653238 AC145034,AC146944,AF086359,AK093949,BX537982,BC171919,NR_033417,DQ786239 AAI71919 Hs.655216,Hs.693282 DKFZp686M0199|DKFZp686P18101|MGC198634 pseudo 2302830 GTF2H2C general transcription factor IIH, polypeptide 2C 12477932 728340 NM_001098728,AC145102,AC147575,AK292361,AK315282,BC105980,BC157894,BC171860 NP_001092198,BAF85050,BAG37691,AAI05981,AAI71860,Q6P1K8 Hs.422901 DKFZp686P18101|FLJ77682|GTF2H2D|MGC102806|MGC198575 OTTHUMP00000221911|OTTHUMP00000221912|OTTHUMP00000221932|general transcription factor IIH polypeptide 2-like protein|general transcription factor IIH subunit 2-like protein|general transcription factor IIH, polypeptide 2, 44kDa-like protein-coding 2302833 GTF2H2D general transcription factor IIH, polypeptide 2D 12477932,15372022 730394 NM_001042490,AC138827,BC064557,BC065021,BX647445,CR614250 NP_001035955,AAH64557,AAH65021,Q6P1K8 Hs.422901 DKFZp686M0199|GTF2H2C|MGC75049|MGC75050 OTTHUMP00000221911|OTTHUMP00000221912|OTTHUMP00000221932|general transcription factor IIH polypeptide 2-like protein|general transcription factor IIH subunit 2-like protein|general transcription factor IIH, polypeptide 2, 44kDa-like protein-coding 1313552 GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa 1580863 8692841,8628270,7724549,10583946,8946909,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,18270339,15489334,15220921,14569024,12477932,10866664,10673506,10438593,10082552,10066804,9765201,9651670,9570510,9334327,9311822,9184228,9121429,9118947,9054383,8934526,8849451,8692842,8652557,8194529,9405375,17643375,9852112 2967 NM_001516,AC117503,AF548661,CH471054,AK313200,BC013216,BC014570,BC031030,BC039726,BC047868,BC065250,CR593503,Z30093,AK298128 NP_001507,AAN40702,EAW98426,EAW98427,EAW98428,EAW98429,BAG36016,AAH31030,AAH39726,AAH47868,AAH65250,CAA82909,Q13889,Q8NEI1,ABZ92424,BAG60408 Hs.355348 BTF2|TFB4|TFIIH BTF2 p34|TFIIH basal transcription factor complex p34 subunit|basic transcription factor 2 34 kDa subunit|general transcription factor IIH polypeptide 3|general transcription factor IIH subunit 3 protein-coding 1352501 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 1331680,1580863 12590132,12477932,11113176,10866664,10677310,10438593,10082552,10066804,9765201,9651670,9570510,9373149,9334327,9311822,9184228,9130708,9121429,9054383,8934526,8849451,8692842,8628270,8125298,11062469,9159119,17466626,9118947,9405375,10583946,8946909,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,18676829,18614043,18391197,18354501,17466625,17242193,16874302,16702430,16246722,15601838,15533047,15489334,15220921,14569024,17643375,19681155,19851445,19945377,20522537,9852112,20587610 1331680 2968 AB032121,AB088103,AB103609,AB202101,AL662854,AL662870,AL669830,AL773541,AY124590,BA000025,BX927194,CH471081,CR759747,CR936875,AK222607,NM_001517,AK298058,AK300239,AK309869,BC004935,BC016302,BI460355,BT007321,CR593757,CR597850,CR598798,CR606017,CR606652,CR609671,CR610075,CR619568,CR622991,Y07595 NP_001508,BAC54936,BAF31271,BAE78622,CAI17435,CAI18003,CAI18452,AAM64222,BAB63317,CAQ09772,EAX03347,CAQ06761,CAQ10923,BAD96327,BAG60352,BAG62007,AAH04935,AAH16302,AAP35985,CAA68870,Q53HH3,Q76KU4,Q92759,ABM84091,ABM87462 Hs.485070 TFB2|TFIIH BTF2 p52|TFIIH basal transcription factor complex p52 subunit|basic transcription factor 2 52 kDa subunit|general transcription factor IIH polypeptide 4|general transcription factor IIH subunit 4 protein-coding 1345695 GTF2H5 general transcription factor IIH, polypeptide 5 This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq] 18270339,17350038,16669699,16427011,15489334,15220921,15146197,14702039,14574404,12477932,11062469,20522537,9461396 404672 AL133347,NM_207118,NG_011758,AL590703,CH471051,CS300615,AJ634743,AK055106,BC004568,BC038848,BC056906,BC060317,BQ004444,CN403888,AK024874,AK129771,U92024,U92025 NP_997001,CAH70241,EAW47663,CAK32279,CAG25512,AAH56906,AAH60317,Q6ZYL4,ABZ92133 Hs.356224 C6orf175|TFB5|TFIIH|TGF2H5|TTD|TTD-A|TTDA|bA120J8.2 TFB5 ortholog|TFIIH basal transcription factor complex TTD-A subunit|TFIIH basal transcription factor complex TTDA subunit|general transcription factor IIH subunit 5 protein-coding 1347498 GTF2I general transcription factor IIi This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21. [provided by RefSeq] 1580863 9334314,9012831,15231747,17353931,19182516,19111598,19097122,18976654,18579769,18445785,17081983,17023658,16964243,16943425,16738337,16314517,16166082,16055724,15941713,15767439,15664986,15635413,15561718,15489334,15302935,14743216,14702039,14623887,14556246,12865760,12853948,12493763,12477932,12393887,12239342,12193603,12082086,11934902,11373296,11313464,11287625,10854432,10648599,10373551,9837922,9671454,9584171,9466987,9384587,8377829,1961251,11278762,19897463,17643375,17970752,19615732,19701889,19880526,18029348,19486527 2969 NM_033001,NM_033000,NM_001518,NM_032999,NG_008179,NM_001163636,AC004883,AC005231,AC083884,CH471200,AF015553,AF035737,AF038967,AF038968,AF038969,AK057670,AK096095,AK292832,AK294935,AK297238,BC004472,BC070484,BC099907,BT007450,CR599201,U77948,Y14946 NP_127492,NP_127494,NP_127493,NP_001509,NP_001157108,AAL93085,AAS07460,AAS07461,AAS07462,AAS07463,AAS07464,EAW69594,EAW69595,EAW69596,EAW69597,EAW69598,AAB70791,AAC08312,AAC08313,AAC08314,AAC08315,BAF85521,BAG58013,BAG59719,AAH04472,AAH70484,AAH99907,AAP36118,AAB48826,CAA75163,P78347,Q499G6,Q86U51 Hs.647041 BAP135|BTKAP1|DIWS|FLJ38776|FLJ56355|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR6 BTK-associated protein 135|BTK-associated protein, 135kD|Bruton tyrosine kinase-associated protein 135|OTTHUMP00000209509|SRF-Phox1-interacting protein|Williams-Beuren syndrome chromosome region 6|general transcription factor II-I|williams-Beuren syndrome chromosomal region 6 protein protein-coding 1345691 GTF2IP1 general transcription factor IIi, pseudogene 1 15252450,14702039,12477932,9466987 2970 NR_002206,AC124781,AC138783,AF036613,AK057750,AK093663,AK095645,AK098799,AK299175,BC045632,BQ021719,DQ786291 BAG61221 Hs.654705,Hs.488624 WBSCR7 pseudo 1343970 GTF2IP2 general transcription factor II, i, pseudogene 2 338448 733836 GTF2IRD1 GTF2I repeat domain containing 1 The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants. [provided by RefSeq] 1580863 9774679,15231747,17474147,10575229,11438732,19240061,19205026,18326499,17346708,17081983,16494860,16293761,15941713,15527767,15489334,15302935,12865760,12857748,12853948,12477932,12475981,12239342,12193603,10642537,10573005,10198167,19897463,18508765,20007321 9569 NG_027954,NM_016328,NM_005685,AC004851,AC005015,AC005231,CH471200,AB209389,AF089107,AF104923,AF118270,AF151354,AF156489,AK308242,AY648295,BC018136,CR594398,CR622355,NM_001199207 NP_057412,NP_005676,AAS00361,AAS00362,AAP21877,EAW69599,EAW69600,EAW69601,BAD92626,AAF21796,AAD27668,AAD14687,AAF19786,AAF17358,AAT68469,AAH18136,Q59FS0,Q6DSU6,Q75MX6,Q9UHL9,ABM82097,ABM85280,NP_001186136 Hs.647056 BEN|CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1 GTF2I repeat domain-containing 1|GTF2I repeat domain-containing protein 1|OTTHUMP00000213172|USE B1-binding protein|Williams-Beuren syndrome chromosome region 11|binding factor for early enhancer|general transcription factor 3|general transcription factor II-I repeat domain-containing protein 1|general transcription factor III|general transcription factor ii i repeat domain-containing 1|musTRD1/BEN|muscle TFII-I repeat domain-containing protein 1 alpha 1|slow-muscle-fiber enhancer-binding protein|williams-Beuren syndrome chromosomal region 11 protein|williams-Beuren syndrome chromosomal region 12 protein protein-coding 1604573 GTF2IRD2 GTF2I repeat domain containing 2 This gene is unusual in that its coding sequence is mostly derived from Charlie8 repeat elements. However, there is mRNA and EST evidence to suggest that this gene is transcribed, and the encoded protein has a homolog in mouse, with which it shares 78% sequence identity. The exact function of this gene product is not known. It is inferred to be a transcription factor based on the presence of GTF2I-like repeats (containing helix-loop-helix motifs), also found in other proteins such as GTF2IRD1 and GTF2I. These three genes are clustered together on chr 7q11.23. [provided by RefSeq] 15388857,15243160,15100712,14702039,12477932,9373149,8125298 84163 AC004166,AC083884,AF447876,AK095257,AK095572,AK098269,AK225845,AL833932,AL834153,AY260739,AY312853,AY312854,AY336979,AY336980,AY336981,BC038098,BC047706,BC061590,BC067859,NM_173537 NP_775808,AAQ04651,BAC04576,BAG53604,CAD38788,CAD38861,AAP14955,AAQ19673,AAQ19674,AAR36865,AAR36866,AAR36867,AAH47706,AAH61590,AAH67859,Q71MG1,Q86UP8 Hs.647017,Hs.647039 FLJ21423|FLJ37938|FP630|GTF2IRD2A|MGC75203 GTF2I repeat domain-containing protein 2A|GTF2IRD2 alpha|OTTHUMP00000160880|OTTHUMP00000209156|general transcription factor II i repeat domain 2 alpha|general transcription factor II-I repeat domain-containing protein 2A|transcription factor GTF2IRD2|transcription factor GTF2IRD2-alpha protein-coding 1604691 GTF2IRD2B GTF2I repeat domain containing 2B This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 15388857,15146197,15100712,12477932 389524 NM_001003795,AC124781,AK025076,AK291431,AY312850,AY312851,BC048252,BC136849,BX647624,CN286208 NP_001003795,BAB15060,BAF84120,AAR36863,AAR36864,AAH48252,AAI36850,Q6EKJ0,Q86Y00 Hs.647039 GTF2I repeat domain-containing protein 2B|GTF2IRD2 beta|OTTHUMP00000209066|OTTHUMP00000209069|general transcription factor 2 I repeat domain-containing 2 beta|general transcription factor II-I repeat domain-containing protein 2B|transcription factor GTF2IRD2-beta protein-coding 1602026 GTF2IRD2P GTF2I repeat domain containing 2 pseudogene 15100712 401375 NR_002164,AC006995,AY312852 Hs.651178 GTF2IRD2P pseudo 732489 GTF3A general transcription factor IIIA The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq] 1580863 8063702,17474147,7789179,15342556,12711686,11814676,10756201,9171097,8610146,7622052,2912980,11170396,12775724,20935630,12477932,1589293,16730941,18029348,18573876 2971 NM_002097,AL137059,CH471075,AK057993,AW627732,BC143711,BP254755,CR595440,CR596081,CR600569,CR603004,CR612806,CR614643,D32257,U14134,U20272 NP_002088,EAX08403,EAX08404,EAX08405,BAA06988,AAA21873,AAA75623,Q92664,CAX15100,CAX15101 Hs.445977 AP2|TFIIIA OTTHUMP00000200771|general transcription factor iii a|transcription factor IIIA protein-coding 1351483 GTF3BAP1 general transcription factor IIIB, associated protein 1 9281 1342932 GTF3BAP2 general transcription factor IIIB, associated protein 2 9280 1347967 GTF3BAP3 general transcription factor IIIB, associated protein 3 9279 736274 GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa 632988,1580863 17081983,16964243,15489334,15342556,15302935,14702039,12711686,12477932,11741993,10493829,9660958,8164661,8127861,1447193,1403646,16169070,10523658,10373544,11965497,17409385,18644873,20543138,20562859,19299493 632988 2975 NM_001520,AC002303,AC002551,AC025275,CH471145,AK091032,AK123999,AK131479,BC044857,BC052642,BC137229,BC151847,BP283960,BX648143,CA414192,CR627430,U02619,U06485 NP_001511,AAB67637,AAC05811,EAW55744,EAW55745,AAH44857,AAH52642,AAI37230,CAH10771,CAH10517,AAA17985,AAA85638,Q12789,Q6AHZ7,Q6AWA4,Q7Z7H4 Hs.371718 DKFZp686A111|TFIIIC|TFIIIC220|TFIIICalpha TF3C-alpha|TFIIIC 220 kDa subunit|TFIIIC box B-binding subunit|general transcription factor 3C polypeptide 1|general transcription factor IIIC, polypeptide 1 (alpha subunit)|general transcription factor iii c 1|transcription factor IIIC 220 kDa subunit|transcription factor IIIC subunit alpha protein-coding 1343562 GTF3C2 general transcription factor IIIC, polypeptide 2, beta 110kDa 1580863 17409385,7729686,17081983,16964243,16822860,15489334,15342556,12477932,10523658,10373544,9660958,9171097,9169441,9110174,8619474,7584028,7584026,1403646 2976 NM_001035521,NM_001521,AC013413,AC074117,AC109828,CH471053,AF054988,AK307656,BC000212,BC020981,BP249089,BP278201,BT009799,BX647092,CR618803,D13636 NP_001030598,NP_001512,AAY24299,AAY24049,EAX00594,EAX00595,EAX00596,AAC09349,AAH00212,AAH20981,AAP88801,BAA02800,Q53QN0,Q53SY8,Q8WUA4 Hs.75782 KIAA0011|TFIIIC-BETA|TFIIIC110 OTTHUMP00000123422|TF3C-beta|TFIIIC 110 kDa subunit|general transcription factor 3C polypeptide 2|transcription factor IIIC 110 kDa subunit|transcription factor IIIC subunit beta protein-coding 1319385 GTF3C3 general transcription factor IIIC, polypeptide 3, 102kDa 1580863 17409385,15489334,14702039,12477932,11965497,10373544,8573604,1403646,10523658,17353931,20562859,17643375,19596235 9330 AF085850,AF133123,AF465407,AK025560,AK027050,AK314718,AL137453,BC015995,BC026889,BC036952,BC043347,S81493,NM_012086,AC012486,CH471063 EAW70134,AAD41475,AAL73493,BAB15638,BAG37262,CAB70745,AAH15995,AAH43347,Q9Y5Q9,EAW70133,NP_036218,AAX88853,EAW70132 Hs.470996 TFIIIC102|TFIIICgamma|TFiiiC2-102 TF3C-gamma|TFIIIC 102 kDa subunit|general transcription factor 3C polypeptide 3|transcription factor IIIC 102 kDa subunit|transcription factor IIIC subunit gamma|transcription factor IIIC, 102 kD protein-coding 1349733 GTF3C4 general transcription factor IIIC, polypeptide 4, 90kDa 1580863 17409385,10523658,17081983,15489334,15302935,14702039,12477932,10373544,1403646,20487506 9329 NM_012204,AL160165,CH471090,AF142328,AK024655,AK027509,BC011619,BC022787,BC060821,BC094774,BC104755,BC112245,CX755755 NP_036336,CAH70534,EAW88010,EAW88011,AAF05087,BAG51334,AAH11619,AAH22787,AAH94774,AAI04756,AAI12246,Q05CN7,Q9UKN8 Hs.656646 FLJ21002|KAT12|MGC138450|TFIII90|TFIIIC290|TFIIIC90|TFIIICDELTA TF3C-delta|TFIIIC 90 kDa subunit|general transcription factor 3C 4|general transcription factor 3C polypeptide 4|transcription factor IIIC 90 kDa subunit|transcription factor IIIC subunit delta protein-coding 1313045 GTF3C5 general transcription factor IIIC, polypeptide 5, 63kDa 17409385,16344560,15489334,12477932,10523658,10373544,9373149,9110174,8619474,8125298,1403646,14702039,19913121,20628086,17643375 9328 AK055092,AK097295,AK225761,AK293980,AK311481,AY007123,BC006409,BC009741,BC011355,BC017337,BC030157,CR604474,CR610972,CR614381,DB194811,NM_012087,AL162417,CH471090,AF133124,AJ420443,AK000194,AK024510,NM_001122823 BAG51466,BAC04993,BAH11639,AAG01991,AAH09741,AAH11355,AAH17337,AAH30157,Q5T7U0,Q5T7U1,Q5T7U4,Q9NXK9,Q9Y5Q8,ABM82997,ABM86191,NP_001116295,NP_036219,CAI13405,CAI13406,CAI13407,CAI13408,CAI13409,CAI13410,CAI13411,EAW88026,EAW88027,EAW88028,EAW88029,AAD41476,BAA91001 Hs.495417 FLJ20857|TFIIIC63|TFIIICepsilon|TFiiiC2-63 TF3C-epsilon|TFIIIC 63 kDa subunit|general transcription factor 3C polypeptide 5|transcription factor IIIC 63 kDa subunit|transcription factor IIIC subunit epsilon|transcription factor IIIC, 63 kD protein-coding 1316627 GTF3C6 general transcription factor IIIC, polypeptide 6, alpha 35kDa RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM] 15489334,14702039,12477932,17409385 112495 NM_138408,AL357515,CH471051,AF361492,AF361496,AK057977,BC011593,BC104655,BQ269752,CR615266,EF137904 NP_612417,CAH73393,EAW48305,AAL57217,AAL57221,BAB71624,AAH11593,AAI04656,ABO33431,Q3SWV5,Q969F1 Hs.418520 C6orf51|TFIIIC35|bA397G5.3 TFIIIC 35 kDa subunit|general transcription factor 3C polypeptide 6|transcription factor IIIC 35 kDa subunit|transcription factor IIIC 35kDa|transcription factor IIIC subunit 6 protein-coding 1315559 GTPBP1 GTP binding protein 1 This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq] 1580863 9070279,17081983,15461802,14702039,12477932,11042152,10938096,10833435,10591208,9820815,15489334 9567 NM_004286,AL021707,CH471095,AF077204,AF370385,AI570660,AK095950,AK096647,AK315704,BC001701,BC014075,BC016030,BC046350,BF001482,CR456501,U87964 NP_004277,CAI21603,EAW60261,EAW60262,EAW60263,EAW60264,AAD26999,AAQ15221,BAG38066,AAH14075,CAG30387,AAB51273,O00178,Q71RF2,Q9Y2S8,CAK54529,CAK54828,ACE87171,ACE86490 Hs.276925 GP-1|GP1|HSPC018|MGC20069 G-protein 1|GTP-binding protein 1 protein-coding 1606997 GTPBP10 GTP-binding protein 10 (putative) Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM] 17054726,16189514,14702039,12477932,17567994 85865 NM_001042717,NM_033107,AC002064,AC006153,CH236949,CH471091,AF351613,AK095561,AK125553,AK294325,AL525056,BC004923,BC021573,BC107714,BC144162,CR605742,CR614815,CR621162,CR933597,T65158 NP_001036182,NP_149098,AAD15550,EAL24164,EAW76878,EAW76879,EAW76880,EAW76881,EAW76882,AAN76513,BAC04573,BAG57597,AAH04923,AAH21573,AAI07715,CAI45922,A4D1E9 Hs.709271,Hs.593547 DKFZp686A10121|FLJ38242|MGC104191|ObgH2|UG0751c10 GTP-binding protein 10|OTTHUMP00000206403|protein obg homolog 2 protein-coding 1314943 GTPBP2 GTP binding protein 2 GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM] 1580863 15489334,14702039,14574404,12477932,11054535,10833435,8889548 54676 NM_019096,AL353602,CH471081,AB024574,AF168990,AJ420518,AK000430,AK290267,AL834331,BC020980,BC028347,BC032315,BC064968,BU736981,CR604253,CR607185 NP_061969,CAC36269,CAI12782,CAI12783,CAI12784,CAI12785,EAX04213,EAX04214,EAX04215,EAX04216,EAX04217,EAX04218,BAB12431,AAF78884,BAA91160,BAF82956,CAD38999,AAH20980,AAH28347,AAH64968,Q9BX10,Q9P1K2 Hs.485449 MGC74725 GTP-binding protein 2 protein-coding 1313350 GTPBP3 GTP binding protein 3 (mitochondrial) 20877624,11256614,18852288,16713569,16344560,16341674,16189514,15542390,15489334,14702039,14680828,12477932,12370316,1290633,19209188 84705 NM_001128855,NM_133644,NM_032620,NG_027824,AC010463,AF361481,CH471106,AF360742,AF360743,AF360744,AK027606,AK091035,AK291929,AK311442,AY078987,AY078988,BC008924,BC017207,BC019261,BI856784,BM789389,CR593057,CR624592,DA490131,DA666199,AK297953,AK298485,AK310794,DA044241,DC339966,NM_001195422 NP_598399,NP_116009,NP_001122327,AAK37568,EAW84597,EAW84598,EAW84599,AAK39555,AAK39556,AAK39557,BAB55228,BAF84618,AAL85492,AAL85493,AAH08924,AAH17207,AAH19261,Q969Y2,Q96H44,ABM83143,ABM86339,BAH12694,BAH12799,NP_001182351 Hs.334885 FLJ14700|FLJ17836|GTPBG3|MSS1|MTGP1|THDF1 GTP-binding protein 3|mitochondrial GTP binding protein|mitochondrial GTP-binding protein 1|tRNA modification GTPase GTPBP3, mitochondrial protein-coding 732875 GTPBP4 GTP binding protein 4 GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq] 632611,1580863 14702039,12477932,12429849,11316846,9373149,8125298,17210637,17353931,17081983,15489334,20308539,15324660,16385451 632611 23560 AC022536,AF065393,AL359878,CH471072,AF120334,AF325353,AI740474,AK001548,AK001552,AK097093,AK222861,AK295231,AK301721,AK302219,BC008683,BC021243,BC033784,BC038975,CR613289,NM_012341,DQ496111 NP_036473,AAC24364,CAI13664,CAI13665,EAW86526,EAW86527,EAW86528,AAD09830,AAK13444,BAG50937,BAA91752,BAD96581,BAG58224,BAH13539,BAG63575,AAH33784,AAH38975,O60747,Q5T3R7,Q8N4P8,Q9BZE4,Q53GS0,ABF55254 Hs.215766 CRFG|FLJ10686|FLJ10690|FLJ39774|NGB|NOG1 G protein-binding protein CRFG|GTP-binding protein NGB|chronic renal failure gene protein|g protein-binding protein crfg|nucleolar GTP-binding protein 1 protein-coding 1344224 GTPBP5 GTP binding protein 5 (putative) Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM] 1580863 14702039,12477932,11780052,16712791,20877624,17054726,16344560,15489334,17207965 26164 NM_015666,AL078633,CH471077,AK001603,AK124572,AK299147,AK299189,AK299726,AK316027,AK316325,AL117498,BC007885,BC012073,BC036716,BC040178,BI087669,BU857001,CA976010,CB127579,DA970672 NP_056481,CAC04015,CAI18834,EAW75386,EAW75387,EAW75388,BAA91783,BAG61197,BAG61233,BAG61624,BAH14398,BAH14696,CAB55963,AAH36716,Q5JXJ0,Q9H4K7,ADQ32222 Hs.340636 FLJ10741|MGC29512|ObgH1|dJ1005F21.2 GTP-binding protein 5|GTP-binding protein 5 (putative)|OTTHUMP00000031455|protein obg homolog 1 protein-coding 1353569 GTPBP6 GTP binding protein 6 (putative) 737633,1580863 8125298,9466997,12477932,9373149 737633 8225 NM_012227,BX000483,CH471225,AK024630,AK026462,AK074528,AK223412,AK296003,AK298260,BC014636,BT007360,Y14391,XM_003120137,XM_003120165,XM_003121023,XM_003121024,BG437484,DN997384,XM_003119188,XM_003119189,XM_003119198,XM_003119199 CAI41972,EAW66820,BAC11041,BAD97132,BAG58777,BAG60524,AAH14636,AAP36024,CAA74749,O43824,Q8N2Q6,NP_036359,XP_003120185,XP_003120213,XP_003121071,XP_003121072,XP_003119236,XP_003119237,XP_003119246,XP_003119247 Hs.437145 FLJ20977|FLJ22809|FLJ56662|FLJ56805|FLJ90047|PGPL OTTHUMP00000024276|pseudoautosomal GTP-binding protein-like|putative GTP-binding protein 6|putative GTP-binding protein 6-like protein-coding 1606015 GTPBP8 GTP-binding protein 8 (putative) 14702039,12477932,11042152,20877624,20379614 29083 BC037163,BG655089,BI830308,BX354218,CA429378,CK818022,CR594357,CR624891,NM_138485,AC074044,CH471052,AF161484,AI367201,AK093419,AK289611,AK292651,BC000003,BC010137,NM_014170 AAH37163,Q8N3Z3,Q9P025,ABM83233,ABM86432,NP_054889,NP_612494,EAW79652,EAW79653,EAW79654,EAW79655,EAW79656,AAF29099,BAF82300,BAF85340 Hs.127496 HSPC135 GTP-binding protein 8|OTTHUMP00000214632|OTTHUMP00000214633|OTTHUMP00000214634 protein-coding 1348058 GTS Gilles de la Tourette syndrome 2973 1349539 GTSCR1 Gilles de la Tourette syndrome chromosome region, candidate 1 12682296 220158 Q86UQ5 XM_496277,XM_936478,AC091646,AY262164 XP_496277,XP_941571,AAP13553,Q86UQ5 Hs.448217 protein-coding 1350308 GTSE1 G-2 and S-phase expressed 1 The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq] 1580863 10974554,16964243,16344560,15998911,15790807,15489334,15461802,15302935,15146197,14707141,14702039,12750368,12477932,10984615,10591208,9373149,8889548,8125298,20577264,19913121,20628086,19615732,20018861,20800603 51512 NM_016426,AL031588,AL031844,CH471138,Z93024,AF223408,AK025563,AK222806,AK303087,AK315550,AY927425,AY927426,AY927427,BC006325,BC069212,BC075828,BE390871,BG718574,BG770679,BQ049956,BU621031,BX329502,CA419902,CF145254,CN333997,CT841519,CX866545,CX871575,DA697736,DB091686,DB152041 NP_057510,EAW73418,EAW73419,EAW73420,EAW73421,AAF31459,BAD96526,BAG64198,BAG37928,AAH06325,AAH75828,CAJ86449,Q9NYZ3,CAK54530,CAK54829,ABM83697,ABM87019 Hs.386189,Hs.439524 B99 G2 and S phase-expressed protein 1|OTTHUMP00000197503|protein B99 homolog protein-coding 1605883 GTSF1 gametocyte specific factor 1 15489334,14702039,12477932 121355 NM_144594,AC079313,CH471054,AK057504,AK098819,BC021179,BC105587,BE503352 NP_653195,EAW96783,EAW96784,EAW96785,BAG51922,BAC05423,AAH21179,AAI05588,Q8WW33 Hs.524476 FAM112B|FLJ32942 family with sequence similarity 112, member B|gametocyte-specific factor 1 protein-coding 1314719 GTSF1L gametocyte specific factor 1-like 12477932 149699 NM_001008901,NM_176791,AL121886,CH471077,AA723626,AA813527,AK058060,BC040049,BQ428678,BX355734,CR613553,HC006828 NP_001008901,NP_789761,CAC08393,CAI18926,EAW75949,EAW75950,AAH40049,Q5JWH5,Q9H1H1,CBH19220 Hs.447626,Hs.710523 C20orf65|FAM112A|MGC50820|dJ1028D15.4 chromosome 20 open reading frame 65|family with sequence similarity 112, member A|gametocyte-specific factor 1-like protein-coding 1318644 GUCA1A guanylate cyclase activator 1A (retina) This gene plays a role in the recovery of retinal photoreceptors from photobleaching. In the recovery phase, the phototransduction messeneger cGMP is replenished by retinal guanylyl cyclase-1 (GC1). GC1 is activated by decreasing Ca(2+) concentrations following photobleaching. The protein encoded by this gene, guanylyl cyclase activating protein 1 (GCAP1), mediates the sensitivity of GC1 to Ca(2+) concentrations. GCAP1 promotes activity of GC1 at low Ca(2+) concentrations and inhibits GC1 activity at high Ca(2+) concentrations. Mutations in this gene cause autosomal dominant cone dystrophy (COD3); a disease characterized by reduced visual acuity associated with progressive loss of color vision. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia. [provided by RefSeq] 1599353,1580863 9425234,7983048,18541533,16344560,15953638,15790869,15735604,15505030,15504042,15489334,14574404,12732716,12477932,12445466,12390029,11484154,20801516,11146732,11108966,9702199,9651312,9119368,19459154,9931003 1599353 2978 NM_000409,NG_009938,AL096814,CH471081,L36861,AK125780,AK313865,BC031663,DB049592,L36859 NP_000400,CAB89167,CAD92530,CAO03542,EAX04084,AAA60542,BAG54246,BAG36593,AAH31663,AAA60541,P43080,ABM82228,ABM85413 Hs.92858 C6orf131|COD3|CORD14|GCAP|GCAP1|GUCA|GUCA1|dJ139D8.6 GCAP 1|OTTHUMP00000016397|cone dystrophy 3|guanylate cyclase-activating protein, photoreceptor 1|guanylin 1, retina|guanylyl cyclase-activating protein 1 protein-coding 1317826 GUCA1B guanylate cyclase activator 1B (retina) 1580863 1409606,1327879,15901556,15505030,15452722,14574404,12477932,12107411,10507726,9931003,9698373,9119368,9114059 2979 BX537393,NM_002098,AF173227,AL096814,CH471081,BQ636025,NG_016216 CAD97635,Q7Z3V9,Q9UMX6,AAI66640,NP_002089,AAD47279,CAB89166,EAX04085 Hs.446529 DKFZp686E1183|GCAP2|GUCA2|RP48 GCAP 2|guanylate cyclase-activating protein, photoreceptor 2|guanylyl cyclase-activating protein 2 protein-coding 1350559 GUCA1C guanylate cyclase activator 1C 1580863 10037746,16626734,12477932,11860507 9626 NM_005459,AC016948,AC080135,AF110001,CH471052,AF110002,AF110003,AV732101,BC103993,BC103994,C20850 NP_005450,AAD19943,EAW79715,EAW79716,AAD19944,AAD19945,ACT64433,AAI03994,AAI03995,O95843,Q3SY23,ACE87770 Hs.233363 GCAP3|MGC120158|MGC120159 GCAP 3|OTTHUMP00000214339|guanylyl cyclase-activating protein 3 protein-coding 735414 GUCA2A guanylate cyclase activator 2A (guanylin) 1580863 1327879,8095028,7947768,15901896,15780094,14988827,12707255,12463760,12163390,11889121,10601865,9272623,7892222,7601480,7566098,1409606,19742348,20213926 2980 NM_033553,AC114492,CH471059,X74322,M95174,M97496,T28160 NP_291031,EAX07168,CAC22258,AAA58625,AAA35915,Q02747,AAI40429,AAI56567 Hs.778 GCAP-I|GUANYLIN|GUCA2|STARA GCAP-I|guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable)|guanylate cyclase-activating protein 1|guanylate cyclase-activating protein I|guanylin protein-coding 736719 GUCA2B guanylate cyclase activator 2B (uroguanylin) Uroguanylin and guanylin (GUCA2A; MIM 139392), peptide homologs of the bacterial heat-stable enterotoxins (e.g., the E. coli ST toxin; STa), are endogenous activators of the guanylate cyclase-2C receptor (GUCY2C; MIM 601330), which synthesizes cyclic GMP (cGMP), a key component of several intracellular signal transduction pathways.[supplied by OMIM] 704404,1580863 8605041,18037771,17582287,15780094,15489334,12548407,12477932,11889121,11431160,11380922,9774236,9698373,9622502,9328941,9268639,7589507,8519795,8141334 2981 NM_007102,AC114492,CH471059,U55058,Z70295,BC069301,BC093779,BC093781,U34279,Z50753 NP_009033,EAX07169,AAC51729,CAA94311,AAH69301,AAH93779,AAH93781,AAC50416,CAA90629,Q16661 Hs.32966 GCAP-II|UGN guanylate cyclase activator 2B|uroguanylin protein-coding 732908 GUCY1A2 guanylate cyclase 1, soluble, alpha 2 Soluble guanylyl (or guanylate) cyclases are heterodimeric enzymes consisting of an alpha subunit, such as alpha-2 (GUCY1A2), and a beta subunit, typically beta-1 (GUCY1B3; MIM 139397), which are activated by nitric oxide (NO) and which catalyze conversion of GTP to 3-prime, 5-prime-cyclic GMP and pyrophosphate (Harteneck et al., 1991 [PubMed 1683630]).[supplied by OMIM] 1300048,1580863 1683630,19240061,15094474,12477932,11752394,11572861,11158065,10512742,8660992,7673142,19948239,20978832,17873020,20379614,20589678 2977 NM_000855,AP001282,AP001881,AP003078,AP005014,CH471065,BC130484,BC130488,BC144033,X63282,Z50053 NP_000846,EAW67081,AAI30485,AAI30489,AAI44034,CAA44921,CAA90393,P33402 Hs.654555 GC-SA2|GUC1A2 GCS-alpha-2|guanylate cyclase soluble subunit alpha-2|soluble guanylyl cyclase alpha2 subunit protein-coding 68653 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 Soluble guanylate cyclase (sGC), a heterodimeric protein consisting of an alpha subunit, such as alpha-1 (GUCY1A3), and a beta subunit, typically beta-1 (GUCY1B3; MIM 139397), catalyzes conversion of GTP to the second messenger cGMP and functions as the main receptor for nitric oxide and nitrovasodilator drugs (Zabel et al., 1998 [PubMed 9742212]).[supplied by OMIM] 1300048,1580863 9742212,1352257,18550612,16344560,15489334,15201957,14702039,12477932,12107412,10828587,10717483,8613461,8097486,15381706 2982 NM_000856,NM_001130682,NM_001130683,NM_001130684,NM_001130685,NM_001130686,NM_001130687,AC104083,AF233750,CH471056,AK096588,AK226125,AK309950,AK312952,BC012627,BC028384,BC095395,BX647200,BX649180,CD671731,CR614534,CR618242,DA793192,DA908917,U58855,X66534,Y15723,AK124244,BC039414 NP_000847,NP_001124154,NP_001124155,NP_001124156,NP_001124157,NP_001124158,NP_001124159,AAF64043,EAX04892,EAX04893,EAX04894,EAX04895,EAX04896,EAX04897,BAG53331,AAH12627,AAH28384,AAB94794,CAA47145,CAA75738,Q02108,Q6PJR4,Q9NNW8 Hs.24258 GC-SA3|GUC1A3|GUCA3|GUCSA3|GUCY1A1 GC-S-alpha-1|GCS-alpha-1|GCS-alpha-3|OTTHUMP00000220600|OTTHUMP00000220601|OTTHUMP00000220603|OTTHUMP00000220604|OTTHUMP00000220606|guanylate cyclase soluble subunit alpha-3|soluble guanylate cyclase large subunit protein-coding 732506 GUCY1B2 guanylate cyclase 1, soluble, beta 2 1300048,1580863 18565106,10777682,10717006,10677588,10449911,9889008,1980215,20451256 2974 NR_003923,AF218383,AL137881,AL160157,CH471075,AF038499,AK296746,CR615161,AI247180 AAF66105,CAI15432,EAX08865,AAD09440,BAG59330 Hs.411573 GC-SB2 pseudo 731814 GUCY1B3 guanylate cyclase 1, soluble, beta 3 Soluble guanylate cyclase (sGC), a heterodimeric protein consisting of an alpha subunit and a beta subunit, typically GUCY1B3, catalyzes conversion of GTP to the second messenger cGMP and functions as the main receptor for nitric oxide (NO) and nitrovasodilator drugs (Zabel et al., 1998 [PubMed 9742212]).[supplied by OMIM] 1300048,1580863 20024606,20063108,9742212,1352257,16528291,15489334,15381706,12676772,12477932,11572861,10977868,8889548,8613461,8097486,1680753,20105301,18029348 2983 AC104083,AC114761,CH471056,AF020340,AK296680,AK299916,AK300296,AK307838,AK315199,AK315944,BC026332,BC047620,BC060835,BM673988,NM_000857,DC317683,X66533 NP_000848,EAX04888,EAX04889,EAX04890,EAX04891,AAB94877,BAH12412,BAH13171,BAH13254,BAG37638,BAH14315,AAH47620,CAA47144,Q02153 Hs.77890 GC-S-beta-1|GC-SB3|GUC1B3|GUCB3|GUCSB3|GUCY1B1 GCS-beta-1|GCS-beta-3|OTTHUMP00000220584|OTTHUMP00000220586|OTTHUMP00000220587|OTTHUMP00000220588|OTTHUMP00000220591|OTTHUMP00000220593|guanylate cyclase soluble subunit beta-1|guanylate cyclase soluble subunit beta-3|soluble guanylate cyclase small subunit protein-coding 732111 GUCY2C guanylate cyclase 2C (heat stable enterotoxin receptor) 1300048,1580863 1680854,11950846,16899600,16618413,15825168,14748740,14581363,12649275,12444076,12163327,11889121,11478887,11431160,11042348,10737800,10601865,8962140,8661067,8605253,8381596,7761400,1718270,12477932,19620276,19648115,19694825,19895223 2984 NM_004963,AC007545,AC010168,CH471094,U20230,AK310034,AW848739,BC136544,BC136545,M73489,S57551 NP_004954,EAW96324,AAC50381,AAI36545,AAI36546,AAA36655,AAB19934,P25092 Hs.524278 GUC2C|STAR GC-C|STA receptor|guanylate cyclase 2c|guanylyl cyclase C|hSTAR|heat-stable enterotoxin receptor|intestinal guanylate cyclase protein-coding 1343485 GUCY2D guanylate cyclase 2D, membrane (retina-specific) This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq] 1580863,1599624 11485301,9888789,17474147,1356371,7777544,18541533,18487367,18332321,17724218,17684531,17651254,17041576,16505055,16272259,15556616,15512997,15123990,15111605,12623820,12552567,12365911,11709018,11565546,18500817,19111294,19753312,19959640,20201926,20453000,8554074,11035546,10037711,9931003,9698373,9683616,9618177,9391039,9097965,8944027,8889548,8641699,8586428,7806240,20588308,20801516 1599624 3000 NG_009092,NM_000180,AC104581,AJ222657,CH471108,L26921,BM931704,M92432 NP_000171,CAA10914,EAW90103,AAA60366,AAA60547,Q02846,AAI48422 Hs.592109 CORD5|CORD6|CYGD|GUC1A4|GUC2D|LCA|LCA1|RCD2|RETGC-1|ROS-GC1|ROSGC|retGC ROS-GC|guanylate cyclase 2D, retinal|retinal guanylyl cyclase 1|rod outer segment membrane guanylate cyclase protein-coding 1606377 GUCY2E guanylate cyclase 2E This olfactory specific guanylyl cyclase is part of the mammalian olfactory system and and encodes a protein involved in chemosensation in rodents. The gene has become inactivated to become a pseudogene is humans and most primates. [provided by RefSeq] 18085818,17849013,8838319,9153227,20012162 390226 NR_024042,AP001189,AB231718 BAE46879,Q3C1W8 Hs.440026 GC-E|GCD pseudo 731765 GUCY2F guanylate cyclase 2F, retinal The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq] 1300048,1580863,704404 8838319,9153227,7777544,19351817,17868328,16941478,15772651,9698373,12477932 2986 NM_001522,NG_009175,AL031387,CH471120,BC144241,L37378 NP_001513,CAB41303,EAX02681,AAA74451,P51841,AAI56675 Hs.123074 CYGF|GC-F|GUC2DL|GUC2F|RETGC-2|ROS-GC2 guanylate cyclase 2D-like, membrane (retina-specific)|guanylate cyclase F|retinal guanylyl cyclase 2|rod outer segment membrane guanylate cyclase 2 protein-coding 1606865 GUCY2G guanylate cyclase 2G homolog (mouse) pseudogene 19089325,19828552,20210993 390003 NR_028134,AL157786,DY655407,DY655429,EG327740 Hs.722998 GUCY2G pseudo 1602319 GUF1 GUF1 GTPase homolog (S. cerevisiae) 18029348,17203973,16344560,15489334,14702039,12477932,9373149,8553703,8125298,20877624 60558 NM_021927,AC096586,CH471069,AK001607,AK023282,AK025248,AK225314,AK308667,BC012338,BC036768,BX647242,DA997676 NP_068746,EAW93017,EAW93018,BAB14507,BAB15090,AAH36768,Q8N442 Hs.546419 EF-4|FLJ13220 GTP-binding protein GUF1 homolog|GTPase GUF1|GTPase of unknown function 1|elongation factor 4 homolog|ribosomal back-translocase|translation factor GUF1, mitochondrial protein-coding 1320084 GUK1 guanylate kinase 1 1580863 8663313,211390,16832584,16341674,15489334,12477932,12107411,8647247,6260205,6249178,2164269 2987 NM_001159390,NM_001159391,AL359510,CH471098,AK124677,AK125698,AK303845,AL832986,AW083682,BC006249,NM_000858,BC007369,BC009914,BC069001,BC091480,BE780558,BM790067,BQ638787,BU162698,BU931096,CR456836,CR542006,L76200,U66895 NP_000849,NP_001152862,NP_001152863,CAI15061,CAI15062,CAI15063,CAI15064,CAI15065,CAI15066,CAI15067,CAI15068,EAW69851,EAW69852,EAW69853,EAW69854,EAW69855,EAW69856,EAW69857,EAW69858,EAW69859,BAG64788,CAH56207,AAH06249,AAH07369,AAH09914,AAH91480,CAG33117,CAG46803,AAC37598,AAC50659,Q16774,Q658U3,Q6IBG8,Q96IN2 Hs.376933 FLJ42686|FLJ43710|GMK GMP kinase|OTTHUMP00000037738|OTTHUMP00000037739|OTTHUMP00000037740|OTTHUMP00000037741|OTTHUMP00000037742|OTTHUMP00000037743|OTTHUMP00000037746|OTTHUMP00000037747|OTTHUMP00000037748|OTTHUMP00000037750|OTTHUMP00000037751|guanylate kinase protein-coding 1349301 GUK2 guanylate kinase 2 2988 1349088 GULOP gulonolactone (L-) oxidase pseudogene L-gulono-gamma-lactone oxidase is an enzyme that catalyzes the last step of ascorbic acid biosynthesis in most mammalian species. The enzyme catalyzes the reaction of D-glucuronolactone with oxygen to L-xylo-hex-3-gulonolactone and uses FAD as a cofactor. This gene has been inactivated by mutation and is nonfunctional in humans and other primates. 14703305,8175804,3214183,20210993 2989 NG_001136,AF311103,D17460 GULO|SCURVY pseudo 1314963 GULP1 GULP, engulfment adaptor PTB domain containing 1 The prompt clearance of cells undergoing apoptosis is critical during embryonic development, normal tissue turnover, inflammation, and autoimmunity. CED6 is an evolutionarily conserved adaptor protein required for efficient engulfment of apoptotic cells by phagocytes.[supplied by OMIM] 1580863 19122200,19721717,20237496,18029348,11729193,10574763,10574771,18230608,15203218,14702039,12477932,15749123,20599701 51454 AC092598,AC104131,AC108493,AC125490,AC133606,CH471058,AB209890,AF075014,AF191771,AF200715,NM_016315,AK023668,AK055718,AK298626,AK314498,AL080142,AW149992,BC001103,BC068525,CD627760,CR619595 NP_057399,AAX93242,AAY24122,EAX10913,EAX10914,EAX10915,EAX10916,EAX10917,BAD93127,AAF18975,AAF08006,BAG51214,BAG60802,BAG37098,AAH01103,Q59EC1,Q9UBP9 Hs.470887,Hs.712910 CED-6|CED6|FLJ31156|GULP OTTHUMP00000205909|OTTHUMP00000205910|OTTHUMP00000205915|PTB domain adapter protein CED-6|PTB domain adaptor protein CED-6|PTB domain-containing engulfment adapter protein 1|cell death protein 6 homolog|engulfment adapter protein protein-coding 737258 GUSB glucuronidase, beta The GUSB gene encodes beta-glucuronidase (EC 3.2.1.31), a lysosomal hydrolase involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans (Shipley et al., 1993 [PubMed 7680524]). It is a tetrameric glycoprotein composed of identical subunits (Oshima et al., 1987 [PubMed 3468507]). The GUSB gene is mutated in mucopolysaccharidosis type VII (MPS7; MIM 253220).[supplied by OMIM] 704404,1580863,1300048 1702266,1311180,401508,12695355,1916806,3468507,1465145,19224584,18591914,16335952,16272959,15489334,15342556,15314220,14718574,14702039,14612292,14502216,12905469,12754519,12716937,12690205,12522561,12477932,11513863,11238657,10961372,10562416,9373149,9268591,9152401,9016822,8889548,8644704,8599764,8537326,8505339,8348154,8125298,8111413,8111412,7680524,3987656,3924735,2833520 2990 NM_000181,AC073261,CH236961,CH471140,M65002,S72462,AK096764,AK223406,AK300223,AK303819,AK311273,AK312752,BC014142,BM719712,BP284405,CR593823,M10618,M15182,DC346632,NG_016197 NP_000172,AAQ96851,EAL23740,EAX07949,EAX07950,EAX07951,AAA52622,AAD14101,BAD97126,BAG61991,BAG64768,BAG35619,AAH14142,AAA52621,AAA52561,P08236,ABM83867,ABM87189 Hs.255230 BG|FLJ39445|MPS7 OTTHUMP00000210106|beta-D-glucuronidase|beta-G1|beta-glucuronidase protein-coding 1604454 GUSBL1 glucuronidase, beta-like 1 14574404,12477932,7680524 387036 NR_003504,AL133255,BC034017,BC067351,BC140728,BC171739 AAI71739 Hs.675815 GUSBP2|GUSBP4|MGC22265|SMA3-L|SMAC3L|SMAC3L2|b55C20.1|bA239L20.1|bA239L20.5|bGLU-Lp pseudo 1350401 GUSBL2 glucuronidase, beta-like 2 16344560,14702039,12477932,10737800,7680524 375513 NR_003660,AL021368,CH878343,AK023611,AK026691,AL162041,AW955360,BC011838,BC017330,BC030061,BC065547,BC144584,BC144585,BE146054,BI907421,BM553931,BQ574062,CR599178,DB060896,AL831827 EAW50460,EAW50461,EAW50462,EAW50463,EAW50464,EAW50465,EAW50466,EAW50467,EAW50468,EAW50469,EAW50470 Hs.561539,Hs.727000 C6orf216|DKFZp547L1213|FLJ13549|FLJ23038|GUSBL2|SMA3-L|SMAC3L|b55C20.2 pseudo 1606696 GUSBP1 glucuronidase, beta pseudogene 1 7977382,15489334,15372022,14702039,12477932,8565635,7894161,16169070,16344560 728411 AC138951,AC091946,AK095656,AK290693,BC038977,BC052307,BC064850,BC070045,BC094818,BC147000,BQ012501,BX109638,DA358891,NR_027026,NR_027027,NR_027028 BAF83382,BAG53099 Hs.88181 SMA3 pseudo 2796334 GUSBP3 glucuronidase, beta pseudogene 3 12477932,14702039,15342556,17213182,7552146,7977382 653188 AC139495,AK124130,AK289965,BC051369,BT006760,DT218991,NR_027386,U21555,X83299,AC118459 AAP35406,ABM92191,BAF82654,CAA58278 Hs.631974,Hs.652536,Hs.654588 FLJ42136|MGC22265 pseudo 1351052 GUSM glucuronidase, beta (mouse) modifier 2991 1602952 GVIN1 GTPase, very large interferon inducible 1 19369598,14702039,12874213 387751 NR_003945,AC091564,AL833700,AK023435,BX538318,BX538342,AL834507 BAB14573,CAD98105,Q7Z2Y8 Hs.494757,Hs.721746 FLJ13373|GVIN1|GVIN1P|VLIG-1|VLIG1 pseudo 4145629 GVINP2 GTPase, very large interferon inducible pseudogene 2 19369598 100128135 AADB02013600,ABBA01028671 pseudo 1348748 GYG1 glycogenin 1 1302293,2303736,2304070,1580863 1281472,12051921,17055998,2493642,8613547,10924520,17311895,16189514,15870102,15860684,15489334,12477932,11916970,10721716,10395894,9857012,9346895,8661012,8602861,8325847,20357282,20562859 1302293,2303736,2304070 2992 AC021059,AF065481,CH471052,NM_004130,AF087942,AK299962,AK312283,BC000033,BC031096,CR536547,CR592226,CR593401,CR594956,CR601242,CR602596,CR604931,CR619386,CR622007,CR623853,CR626037,U31525,U44131,X79537,NG_027677,AA191440,BG702275,NM_001184720,NM_001184721 AAD31084,EAW78894,EAW78895,EAW78896,EAW78897,NP_004121,EAW78898,EAW78899,EAW78900,EAW78901,AAD52093,BAG61788,BAG35212,AAH00033,AAH31096,CAG38784,AAB09752,AAB00114,CAA56073,P46976,Q8N5Y3,NP_001171649,NP_001171650 Hs.477892 GSD15|GYG GN-1|GN1|OTTHUMP00000215734|OTTHUMP00000215737|glycogenin-1 protein-coding 1344312 GYG2 glycogenin 2 1580863 12051921,9346895,8613547,9691087,18029348,15489334,14702039,12477932,11840567,10721716,9857012,1281472,16189514,20098747 8908 NM_003918,NM_001079855,AC005295,AC138085,AF179624,CH471074,AK098046,AK292496,BC023152,CB410312,DQ424901,U94357,U94358,U94360,U94361,U94362,U94363,NG_021257,NM_001184702,NM_001184703,NM_001184704 BAF85185,NP_003909,NP_001073324,AAF61855,EAW98705,EAW98706,EAW98707,EAW98708,EAW98709,EAW98710,EAW98711,EAW98712,BAG53568,AAH23152,ABD83666,AAB84373,AAB84374,AAB84375,AAB84376,AAB84377,AAB84378,O15488,Q1ZYL7,ABM82032,ABM85213,NP_001171631,NP_001171632,NP_001171633 Hs.567381,Hs.701629 GN-2|GN2 OTTHUMP00000022855|glycogenin-2 protein-coding 1346797 GYG2P glycogenin 2 pseudogene 12815422,10542153,16344560,18487259 352887 AC002992,AB371555,BF026648,BX280068,DA362627,NR_033667 Hs.546221,Hs.624707 GYG2P pseudo 1605885 GYLTL1B glycosyltransferase-like 1B 16341674,15958417,15752776,15661757,15498874,15489334,14702039,12477932,19724895,19851296,20198315 120071 NM_152312,AC068385,CH471064,AF258588,AK055829,AK092526,AK096021,BC037291,BM840813,CR597410,CR619128 NP_689525,EAW68020,EAW68021,AAG23791,BAG51581,BAC03909,BAC04675,AAH37291,Q8N3Y3,ABM82471,ABM85277,ABM87867 Hs.86543 FLJ35207|LARGE2|PP5656 glycosyltransferase-like protein LARGE2|like-glycosyltransferase 2|ortholog of mouse glycosyltransferase-like 1B protein-coding 1342753 GYPA glycophorin A (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq] 1580863 1059087,16179731,8953647,1421409,14681217,3456608,8245024,19438409,19071041,18510579,17456399,17452518,17372674,16424825,16205834,16003235,15819453,15783300,15761857,15754970,15489334,14604989,14550622,12949139,12813056,12492375,12477932,12189808,12165956,11936216,11861881,10729812,10644812,9490702,9269716,9082985,8535438,8444872,8286855,7798177,7762218,7718894,7622054,7040988,3809885,3477806,3345758,3198123,3196288,2792104,2753361,2734312,2386609,2216775,2016325,2015404,1932122,1737789,1611092,1560003,20560530,16344560,19300500,19907019,20010834,20010835,20074546,20173748,20233359,20434428,8785502,20603102 2993 AY950613,AY950615,CH471056,M24128,M60707,M60712,M60714,M60716,M81079,M81826,M87884,X15823,AK290561,AY950614,AY297550,NG_007470,AC107223,AF090739,AF325923,AJ309704,AJ309705,AJ309706,AJ309707,AJ309828,AJ309829,AJ309830,AJ309831,AJ309832,AJ309833,AJ309834,AJ309835,AJ309836,AJ309837,AJ309838,AJ309839,AJ309840,AJ309841,AJ309842,AJ309843,AJ309844,AJ309845,AJ311318,AJ311319,AJ311320,AJ311321,AJ311322,AJ311323,AJ311324,AJ311325,AJ311326,AJ311327,AJ311328,AJ311329,AJ311330,AJ311331,AJ311332,AY297541,AY297542,AY297543,AY297544,AY297545,AY297546,AY297547,AY297548,AY297549,NM_002099,BC005319,BC013328,BX649043,CR619929,EU338231,EU338232,EU338233,EU338234,L07251,L07253,L31860,M12857,M36281,S77077,S77082,U00177,U00178,U00179,X08054,X51798,X57023,DA537533 AAR05998,AAX53134,AAX53136,EAX05061,EAX05062,AAA52768,AAC34718,AAC34311,AAC36494,AAC64486,AAC36159,AAC27543,AAA58616,CAA33821,BAF83250,NP_002090,AAC36314,AAG59990,CAC83868,CAC83869,CAC83870,CAC83871,CAC82326,CAC82327,CAC82328,CAC82329,CAC82330,CAC82331,CAC82332,CAC83934,CAC83935,CAC83936,CAC83937,CAC83938,CAC83939,CAC83940,CAC83941,CAC83942,CAC83943,CAC83944,CAC85281,CAC85282,CAC85268,CAC85269,CAC85270,CAC85271,CAC85272,CAC85273,CAC85274,CAC85275,CAC85276,CAC85277,CAC85278,CAC85279,CAC85280,AAR05989,AAR05990,AAR05991,AAR05992,AAR05993,AAR05994,AAR05995,AAR05996,AAR05997,Q58HE7,Q6WBG7,Q7KZ29,Q8WTS2,Q8WWP1,Q8WWP2,Q8WWP3,Q8WWP4,Q9BZD9,Q9UE44,Q9UM93,ABM83972,Q58HE6,AAX53135,AAH05319,AAH13328,ACA96789,ACA96790,ACA96791,ACA96792,AAC46257,AAC46258,AAA88051,AAA88044,AAA52624,AAB34407,AAB34408,AAC50057,AAA18258,CAA30843,CAA36095,CAA40340,P02724,Q03867,Q03870,Q13030,Q14419,Q14420,Q14421,Q14423,Q14424,Q14438,Q14440,Q14446,Q14447,Q16308,Q16336,AAC50058,Q58HE5 Hs.434973 CD235a|GPA|GPErik|GPSAT|GpMiIII|HGpMiIII|HGpMiV|HGpMiX|HGpMiXI|HGpSta(C)|MN|MNS|PAS-2 MN sialoglycoprotein|Mi.V glycoprotein (24 AA)|OTTHUMP00000220154|OTTHUMP00000220156|OTTHUMP00000220158|OTTHUMP00000220159|PAS-2|erythroid-lineage-specific membrane sialoglycoprotein|glycophorin A (MN blood group)|glycophorin A, GPA|glycophorin Erik|glycophorin MiI|glycophorin MiIII|glycophorin MiV|glycophorin MiX|glycophorin SAT|glycophorin Sta type C|glycophorin a (includes mn blood group)|glycophorin-A|recombinant glycophorin A-B Miltenberger-DR|sialoglycoprotein alpha protein-coding 1352730 GYPB glycophorin B (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq] 1580863 7798177,3595615,3571235,3477806,3196288,2016325,2015404,1971625,1611092,7622054,2295603,2734312,19279206,18510579,18284304,18067501,17561857,17372674,15489334,14641872,14638759,12949139,12869123,12477932,11239234,9269716,8563755,8535438,8444872,8193374,8144668,7806496,17207965,19564639,19856717,20431033 2994 NG_007483,AC093890,AF096710,AJ309709,AJ309710,AJ309711,AJ309712,AY297551,AY297552,AY297553,AY297554,AY297555,AY297556,AY297557,AY297558,AY297559,CH471056,L31861,L31862,M24137,M33505,M60708,M60709,U05254,AY509882,AY509883,AY950609,AY950610,AY950611,BC069310,BC121077,BC121078,EU338223,EU338224,EU338225,EU338226,EU338227,EU338228,EU338229,EU338230,NM_002100,EU338235,EU338236,EU338237,EU338238,J02982,U05255,X08055 NP_002091,AAD03045,CAC83873,CAC83874,CAC83875,CAC83876,AAR05999,AAR06000,AAR06001,AAR06002,AAR06003,AAR06004,AAR06005,AAR06006,AAR06007,EAX05058,AAC41695,AAC41696,AAA58626,AAA53152,AAC63048,AAA35928,AAC50503,AAR97607,AAR97608,AAX53130,AAX53131,AAX53132,AAH69310,AAI21078,AAI21079,ACA96781,ACA96782,ACA96783,ACA96784,ACA96785,ACA96786,ACA96787,ACA96788,ACA96793,ACA96794,ACA96795,ACA96796,AAA52573,AAA19251,CAB42645,P06028,Q12831,Q12832,Q14461,Q53X25,Q58HE8,Q6R6M5,Q6R6M6,Q6WBF6,Q7LDD6,Q8WTQ3,Q8WWP0,Q99066,ADQ32898 Hs.654368 CD235b|GPB|GPB.NY|GYPHe.NY|HGpMiVI|MNS|PAS-3|SS OTTHUMP00000220160|OTTHUMP00000220163|OTTHUMP00000220168|PAS-3|SS-active sialoglycoprotein|Ss blood group|glycophorin HeP2|glycophorin MiVI|glycophorin b (includes ss blood group)|glycophorin-B|sialoglycoprotein delta protein-coding 1321115 GYPC glycophorin C (Gerbich blood group) Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. [provided by RefSeq] 1580863 2416746,8219208,15815621,15489334,14695625,12576308,12477932,12469115,12058555,11423550,9305870,9153243,7683929,7106126,6712635,4074499,3793105,3606576,3595602,3571235,3544149,2917976,2818576,2776757,2584223,2349119,1991173,1719701,1413665,20932076,21061946,16669616,19149918,19679754,20306291 2995 NM_002101,NM_016815,NG_007479,AC013474,AY838876,CH471103,M29662,X13890,X14242,AK312032,BC016653,BC104246,BC104247,BC106051,CR600006,CR600264,CR614686,CR622291,CR625319,M11802,M28335,M36284,X12496,X51973 NP_002092,NP_058131,AAY14660,AAV80423,EAW95275,EAW95276,AAA52626,CAA32093,CAA32458,BAG34969,AAI04247,AAI04248,AAI06052,AAA60023,AAA52574,AAA52625,CAA31016,CAA36235,P04921 Hs.59138 CD236|CD236R|GE|GPC|GPD|GYPD|MGC117309|MGC126191|MGC126192|PAS-2|PAS-2' GPD|PAS-2'|glycoconnectin|glycophorin-C|glycophorin-D|glycoprotein beta|sialoglycoprotein D protein-coding 1353887 GYPE glycophorin E The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 1580863 12949139,12477932,10862083,7798177,7521873,7622054,2295603,15489334,2390989,2249783,1591491,1421409 2996 NM_002102,NG_009173,AC093890,AC109812,AF239849,AF239850,AY297560,AY297561,AY297562,AY297563,AY297564,AY297565,AY297566,AY297567,AY297568,AY297569,CH471056,L31858,L31863,M29604,M29605,M29606,M29607,M29608,M29609,M57232,M57233,M57234,X53004,X53005,X53006,X53008,NM_198682,X53009,X53010,AF085899,BC017864,BC064396,BG528203,BX091225,CR602358,CR617175,M29610,N38976 NP_941391,NP_002093,AAF97047,AAR06008,AAR06009,AAR06010,AAR06011,AAR06012,AAR06013,AAR06014,AAR06015,AAR06016,AAR06017,EAX05065,EAX05066,EAX05067,AAC41697,AAA52766,AAA35923,AAA63179,CAA37189,CAA37191,AAH17864,AAA52575,P15421,Q6WBE2,Q6WBE7,Q9NRB2,ABW03465 Hs.654368 GPE|MNS|MiIX glycophorin-E protein-coding 1320086 GYS1 glycogen synthase 1 (muscle) Glycogen is a high molecular mass polysaccharide that serves as a repository of glucose for use in times of metabolic need. Glycogen synthase (EC 2.4.1.11) catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages (Pederson et al., 2004 [PubMed 15282316]).[supplied by OMIM] 1642743,2304106,2313176,2313172,1580863 16115820,20562859,2493642,10924520,16282323,17055998,17353931,19420105,19339242,18996102,18544618,17928598,17356695,17137217,16189514,15955076,15855312,15489334,15342556,15282316,15194499,12870167,12732844,12477932,12411100,11427888,11251056,11147787,11092303,9628874,9373149,9346895,9010351,8449521,8125298,8062946,7657035,7631777,6772446,2117608,20300197,19578796,19615732,19773279,19837931,20017397,20384434,19913121,20602615,20628086 1642743,2304106,2313176,2313172 2997 NM_001161587,NR_027763,AC008687,AC026803,AC098792,CH471177,Z33622,AK223579,AK291672,AK294349,AK300369,AK302738,AK303712,NM_002103,BC002617,BC003182,BC007688,BP313940,CR617414,CR618373,J04501,U32573,NG_012923 NP_002094,NP_001155059,EAW52424,EAW52425,CAA83916,BAD97299,BAF84361,BAH11741,BAH13272,BAH13792,BAH14026,AAH02617,AAH03182,AAH07688,AAA88046,AAB60385,P13807,Q53ER0,Q9BTT9 Hs.386225 GSY|GYS glycogen [starch] synthase, muscle 2289232 BW89_H protein-coding 733991 GYS2 glycogen synthase 2 (liver) 1580863,1300048,2304106,1642743,1582633,704404,1600764 9691087,1731614,18996102,16344560,15489334,12732844,12477932,11752456,8203908,20691427,20800603,8188280,2169698,20379614,20602615 2304106,1642743,1582633,1600764 2998 AK308373,AV653197,BC126310,BC126312,D29685,DB185936,S70004,NM_021957,AC006559,AC010197,AC022072,AJ003087,AJ003088,AJ003089,AJ003090,AJ003091,AJ003092,AJ003093,AJ003094,AJ003095,AJ003096,AJ003097,AJ003098,AJ003099,AJ003100,AJ003101,AJ003102,CH471094,NG_016167 EAW96447,AAI26311,AAI26313,BAA06154,AAB30886,P54840,NP_068776,CAA05859,EAW96446,ADR83307 Hs.82614 glycogen [starch] synthase, liver|glycogen synthase 2 protein-coding 1318777 GZF1 GDNF-inducible zinc finger protein 1 1580863 17674968,16049025,14702039,14522971,12477932,11780052,8889548 64412 NM_022482,AL096677,CH471133,AA062926,AB100265,AK025447,AK056159,AK056477,AK289814,AK293942,AK295362,AK314599,BC016049,BC125188,BC154409,BE348947,BM975844 NP_071927,CAC03438,CAI20155,EAX10159,EAX10160,EAX10161,BAC98464,BAB15134,BAB71107,BAG51726,BAF82503,BAG57319,BAG58326,BAG37170,Q5JXG1,Q9H116 Hs.709462 ZBTB23|ZNF336 GDNF-inducible zinc finger protein 1|zinc finger and BTB domain-containing protein 23|zinc finger protein 336 protein-coding 1348122 GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq] 1580863 19506301,19875524,20503287,12819770,12524539,11331782,11909973,19343046,19258923,19059912,19014932,18951048,18776661,18485875,18317234,17703412,17308307,17138956,17116752,16440001,15998831,15489334,15342556,15238416,12819769,12721789,12555094,12477932,11555662,9531325,9256474,8288245,7751653,3533635,3263427,3262682,3257574,3237717,3047119,1860869,7912927,15911377,20536382,21068403 3001 NM_006144,AC091977,CH471123,U40006,BC015739,BP330335,CR456968,M18737,NG_027996 NP_006135,EAW54900,AAD00009,AAH15739,CAG33249,AAA52647,P12544,ABM83997,ABM87325 Hs.90708 CTLA3|HFSP CTL tryptase|Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)|HF|cytotoxic T-lymphocyte proteinase 1|fragmentin-1|granzyme A|granzyme-1|h factor|hanukkah factor protein-coding 1353495 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein encoded by this gene is crucial for the rapid induction of target cell apoptosis by CTL in cell-mediated immune response. [provided by RefSeq] 1580863 20449762,20027633,12721789,12648453,12648450,12645627,12483306,12477932,12388539,12384430,12218164,12200377,12135665,12009596,11802788,11665980,11406587,11325591,11266473,11209755,11160179,11085743,11081635,11050075,10228010,9852092,9727491,9694885,9651578,9642276,9586635,9464839,9337844,9233763,8910377,8900201,8770355,8631895,8156655,3263427,3262682,3261871,3258865,2953813,2788607,2402757,2365998,2332171,2323780,2300587,2193684,2049336,1985927,1067155,15911377,15650747,19458908,19592644,19759420,19796544,19801510,19956856,20035050,20038786,20087581,20194725,20371822,20410501,19175398,20503287,11911826,12524539,11331782,18029348,11114298,11909973,19543056,19446661,19343046,19258923,19157637,19145036,19141860,19141320,19079360,18836177,18814951,18785318,18772390,18675462,18580471,18568772,18523274,18317234,18311812,18275349,18024321,17996944,17976318,17869012,17825804,17785818,17703412,17620340,17568588,17493234,17485116,17437484,17283187,17258890,17224449,17202328,17198275,17116752,17077322,17055354,17015688,16952444,16908262,16794249,16611405,16547254,16547231,16524880,16415351,16336214,16166746,16107729,15998831,15880044,15843372,15818305,15788411,15699075,15673968,15641052,15569669,15528317,15494398,15489334,15340161,15302935,15238416,15069086,15014070,14996347,14967307,14752093,14739229,14697980,14696402,14635036,14512315,14499262,12919092,12913938,20388708,20536562,20800603,20959405,20394077 3002 NM_004131,AL136018,CH471078,J03072,M28879,M38193,AY232654,AY232655,AY232656,AY372494,BC030195,BX283601,CB528665,J03189,J04071,M17016 NP_004122,EAW66002,EAW66003,AAB59528,AAA75490,AAA67124,AAP70244,AAP70245,AAP70246,AAR23323,AAH30195,AAA36603,AAA52118,AAA36627,P10144,Q67BC3,Q6XGZ2,Q6XGZ3,Q6XGZ4,ABW03325 Hs.1051 CCPI|CGL-1|CGL1|CSP-B|CSPB|CTLA1|CTSGL1|HLP|SECT C11|CTLA-1|OTTHUMP00000028189|T-cell serine protease 1-3E|cathepsin G-like 1|cytotoxic T-lymphocyte proteinase 2|cytotoxic serine protease B|fragmentin 2|fragmentin-2|granzyme B|granzyme-2|human lymphocyte protein|lymphocyte protease 2315792 GLUCO171_H protein-coding 1348061 GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) 1580863 2193684,2402757,19039329,17766182,17765974,17409270,17363894,15489334,15069086,12515723,12477932,10521426,9920846,2300587,2049336,2007574,209336,20800603,19913121,20628086 2999 NM_033423,AL136018,CH471078,J02907,M57888,M59718,M72150,AY232657,AY232658,BC027974,M36118 NP_219491,EAW66004,EAW66005,AAA76859,AAA03514,AAA74885,AAP70247,AAP70248,AAH27974,AAA03248,P20718,Q6XGZ0,Q6XGZ1,ABM82994,ABM86187 Hs.348264 CCP-X|CGL-2|CSP-C|CTLA1|CTSGL2 cathepsin G-like 2|cytotoxic T-lymphocyte proteinase|cytotoxic T-lymphocyte-associated serine esterase 1|cytotoxic serine protease C|cytotoxin serine protease-C|granzyme H protein-coding 68588 GZMK granzyme K (granzyme 3; tryptase II) This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq] 1580863 19201868,19059912,20377743,17438453,17308307,17008916,15489334,12477932,12387726,12384499,8929545,8656064,8039831,7758581,3262682,1460416 3003 NM_002104,AC034238,CH471123,AK312074,BC035802,U26174,U35237 NP_002095,EAW54899,BAG35010,AAH35802,AAA74578,AAA79063,P49863,ABM85019,ABW03654 Hs.277937 TRYP2 NK-Tryp-2|NK-tryptase-2|fragmentin-3|granzyme 3|granzyme K|granzyme K (serine protease, granzyme 3; tryptase II)|granzyme k|granzyme-3|tryptase II protein-coding 1344003 GZMM granzyme M (lymphocyte met-ase 1) Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and Met-ase, also known as granzyme M. [provided by RefSeq] 1580863 19896187,8119738,7713495,20406824,19542453,19103589,18523284,16818775,15494398,15489334,15028722,12506019,12477932,8929545,8245461 3004 NM_005317,AC011556,CH471242,L36922,L36936,BC025701,L23134 ADR82740,NP_005308,EAW61189,AAA57262,AAA57257,AAH25701,AAA59582,P51124 Hs.465511 LMET1|MET1 HU-Met-1|Met-1 serine protease|granzyme M|lymphocyte met-ase 1|met-ase|natural killer cell granular protease protein-coding 1604187 H19 H19, imprinted maternally expressed transcript (non-protein coding) This gene expresses a non-coding RNA, and functions as a tumor suppressor. The gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. Expression of this gene and IGF2 are imprinted so that this gene is only expressed from the maternally-inherited chromosome, and IGF2 is only expressed from the paternally-inherited chromosome. A region of paternal-specific methylation upstream of this gene is required for the imprinting of these genes. Mutations in this gene are associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. [provided by RefSeq] 2306171,2306178,2306181,2306185,2306187,2306176,1342455,2306177,2306182,2306169,1642758,2306175,2306179,2306168,2306183,2306180,2306184,2306170 12569573,12477932,12439823,12419837,11971967,11889182,11813134,10810089,9716667,2595451,1953776,1688465,19513555,19499149,19342096,19066168,19017756,18709478,18708391,18632606,18627058,18604514,18573128,18358696,18262338,18245780,18159214,18006818,16708166,16608903,16603642,15885138,15645136,15314640,15158633,14702039,12937131,12682647,12605037,8385745,20418667,20661447,20483645,20007505,17294726,17786216,19711451,19843670,19876907,19950580,19956766,19956846,20042264,20145138,20104244,20554749,20587610,20639793 2306171,2306178,2306181,2306185,2306187,2306176,1342455,2306177,2306182,2306169,1642758,2306175,2306179,2306168,2306183,2306180,2306184,2306170 283120 NR_002196,AC051649,AF087017,AF091107,AF125183,M32053,AK056774,CR624646,CR624919,CR625840,CR626002,CR626400,CR596119,CR597604,CR598052,CR598390,CR598893,CR599037,CR600015,CR600700,CR600817,CR600913,CR600980,CR602619,CR604451,CR605337,CR605396,CR605723,CR605971,CR606076,CR606538,CR606571,CR607033,CR607245,CR607292,CR608274,CR609090,CR610115,CR610768,CR610911,CR613250,CR613458,CR614241,CR615643,CR616415,CR618478,CR619598,CR620363,CR621921,CR622025,CR623044,AK092486,AK123560,AL546946,AL548405,BC006831,BC007513,BC009853,BC010185,BC013067,BC015952,BC023213,BC040073,BC040852,BC053636,BC053637,BC063564,BC063626,BC069247,BC098439,BC106078,BC110657,BC115700,CR590990,CR591157,CR594207,CR594418,CR594717,CR596050,AC123789,NG_016165 Hs.533566 ASM|ASM1|BWS|D11S813E|MGC4485|NCRNA00008|PRO2605|WT2 miscrna 736127 H1F0 H1 histone family, member 0 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H1 family. [provided by RefSeq] 1580863 20628624,20098747,18029348,17081983,15489334,15461802,14702039,12477932,12406094,12149419,12080050,10591208,10529182,10471283,10228156,9770363,9582379,8325638,7511470,4595808,3084796,16169070 3005 CR615517,CR615993,CR617321,CR619372,CR620114,CR623269,CR623443,CR623479,CR624468,CR613392,NM_005318,CH471095,X03473,Z97630,AA206831,AK091372,AK312583,BC000145,BC029046,BI462123,BX490432,CR456502,CR542220,CR591666,CR591712,CR594003,CR596843,CR597945,CR598601,CR598888,CR601737,CR604452,CR604812,CR606708,CR606842,CR606855,CR609515,CR610156 P07305,CAK54531,CAK54830,ABM81903,ABM85077,NP_005309,EAW60188,CAA27190,CAB42829,BAG35477,AAH00145,AAH29046,CAG30388,CAG47016 Hs.727646 H10|H1FV|MGC5241 H1.0, H1(0), H1-0|histone H1'|histone H1(0)|histone H1.0 protein-coding 1604474 H1FNT H1 histone family, member N, testis-specific 15710904,16533358,12477932,16055721 341567 NM_181788,AC024257,AY496854,AB121028,AY302593,BC118635,BC119787 NP_861453,AAS49492,BAD13382,AAP60022,AAI18636,AAI19788,Q75WM6 Hs.155833 H1T2 HANP1|haploid germ cell-specific nuclear protein 1|histone H1t2|testis-specific H1 histone protein-coding 1347696 H1FOO H1 histone family, member O, oocyte-specific Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The protein encoded is a member of the histone H1 family. The related mouse gene is expressed only in oocytes. 1580863 19147139,15371275,14729479,14729478,12711322,12477932,12408966 132243 NM_153833,AC080007,CH471052,AY158091,BC047943 NP_722575,EAW79242,AAN46899,AAH47943,Q8IZA3,EAW79243 Hs.97358 MGC50807|osH1 histone H1oo|oocyte-specific histone H1|oocyte-specific linker histone H1 protein-coding 1354284 H1FX H1 histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H1 family. [provided by RefSeq] 1580863 12477932,8964515,12698000,17868027,17632103,17081983,16006241,15635413,15595731,15489334,15302935,19108733,19710015 8971 NM_006026,AC137695,CH471052,BC000426,BC010435,D64142 NP_006017,EAW79264,AAH00426,AAH10435,BAA11018,Q92522 Hs.75307 H1X|MGC15959|MGC8350 histone H1x protein-coding 1346656 H2AFB1 H2A histone family, member B1 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq] 15257289,11266453,8528212,12477932 474382 NM_001017990,NG_005114,BX842559,BC128034,CR542230 NP_001017990,CAI41667,AAI28035,CAG47026,P0C5Y9 Hs.592246 H2A.Bbd H2A Barr body-deficient|histone H2A-Bbd type 1 protein-coding 1349803 H2AFB2 H2A histone family, member B2 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq] 16287874,15772651,15489334,15257289,12477932,11266453,8528212 474381 NM_001017991,NG_005114,BX682237,BC101409,BC101415,BC101417,BC101418,BC130510,BC134365,BC130512 NP_001017991,CAI41332,AAI01410,AAI01416,AAI01418,AAI01419,AAI30511,AAI34366,P0C5Z0,AAI30513 Hs.534498,Hs.632841 H2A.Bbd|H2AFB3 H2A Barr body deficient|H2A Barr body-deficient|histone H2A-Bbd type 2/3 protein-coding 1344236 H2AFB3 H2A histone family, member B3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. [provided by RefSeq] 16287874,15772651,15489334,15257289,12477932,11266453,8528212,14657027,11689053,11080476,9566873 83740 NM_080720,NG_005114,BX276110,CH471172,X86012,AF254576,BC101415,BC101417,BC101418,BC130510,BC130512 NP_542451,CAH71440,EAW72649,CAA59998,AAL01652,AAI01416,AAI01418,AAI01419,AAI30511,AAI30513,P0C5Z0,ADR82798 Hs.632841,Hs.534498 H2ABBD|H2AFB|H2AFB2 H2A Barr body-deficient|H2A.Bbd|histone H2A-Bbd type 2/3|histone variant H2A, Barr-body deficient protein-coding 1343634 H2AFJ H2A histone family, member J Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. [provided by RefSeq] 1580863 17207965,16344560,15900300,14702039,14657027,12477932,11689053,11331621,11080476,9566873,8889548,16618726 55766 NM_177925,NR_027716,AC010168,CH471094,AK001765,AK303301,AL133626,BC003602,BM689354,BQ438653,BU594879,CR625218,DA808847,DB084616 ADQ32434,NP_808760,EAW96326,EAW96327,BAA91894,BAG64375,AAH03602,Q9BTM1 Hs.524280,Hs.725431 FLJ10903|FLJ52230|H2AJ|MGC921 H2a/j|histone H2A.J protein-coding 1322551 H2AFV H2A histone family, member V Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq] 16916647,16457589,16344560,16341674,15489334,14702039,14657027,12853948,12477932,11689053,11080476,9566873,16712791 94239 BC014885,BC070169,BF242439,BG679983,BG754026,BG773256,BI257891,BM452844,BM453663,BM850777,BX644511,CB148943,CR602318,CR615278,DA456475,DB460745,NM_201436,NM_201517,NM_201516,NM_012412,AC004854,AL110212,CH236960,CH471128,AB209001,AF081192,AK023973,AK025785,AK129989,AL049324,AL520785,AL520811,BC000098,BC004274,NM_138635 AAH14885,AAH70169,Q71UI9,ABM83332,ABM86544,NP_619541,NP_958844,NP_958925,NP_958924,NP_036544,AAS00365,EAW61074,EAW61075,EAW61076,EAW61077,BAD92238,AAC31938,BAG51243,AAH00098,AAH04274 Hs.488189,Hs.624870 FLJ26479|H2AV|MGC10170|MGC10831|MGC1947 H2A.F/Z|OTTHUMP00000208719|OTTHUMP00000208720|histone H2A.F/Z|histone H2A.V|purine-rich binding element protein B protein-coding 2303437 H2AFVP H2A histone family, member V, pseudogene 654500 NG_009543,AC091544 H2AFVP|HsT19970 pseudo 1346464 H2AFX H2A histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq] 1580863 19234442,17974976,2587254,10959836,12419185,12556884,19638463,19536649,19513550,19500350,19477424,19401347,19397442,19377486,19377482,19351884,19338747,19273588,19265496,19202324,19180575,19146767,19107196,19092802,19064695,19020308,19005492,18955500,18829552,18727058,18656236,18638378,18622584,18616816,18614045,18536151,18457664,18406329,18328813,18285460,18206537,18001825,17957241,17925396,17904670,17874213,17851762,17709392,17668632,17634426,17594478,17548670,17498979,17372987,17327276,17276133,17227291,17203247,17110439,17106266,17064697,16953663,16927366,16909103,16872365,16820894,16788066,16678501,16628006,16494516,16494514,16426422,16310392,16240122,16153602,16046194,15905198,15816840,15733840,15707990,15655354,15613478,15604234,15574327,15489334,15489221,15485898,15389585,15279782,15201865,15059890,14657027,14627815,14519663,12926989,12915485,12792649,12697768,12689589,12660252,12607005,12551934,12477932,12372432,12220643,12033261,11927591,11893489,11689053,11673449,11571274,11331621,11110662,11080476,10734083,10477747,9566873,9488723,8076949,7929075,7769017,15364958,12447390,12485996,15723802,15064416,16382446,20150765,20488183,16522924,20573551,20921231,20053681,20811699,20051134,20569192,20372780,15149599,16169070,16377563,16820410,19305155,19446503,19651821,19707781,19805520,19859659,19861731,19895790,19903578,19910469,19952118,19996277,20023412,20028875,20046100,20062073,20101220,20118229,20157507,20173316,20224553,20351298,20356835,20360682,20461094,20506293,21142613,17145805,19845771,20681785,16932743,19666485,20448412 3014 NM_002105,AP003391,CH471065,DQ015918,BC004915,BC011694,BC013416,CR457079,X14850 NP_002096,EAW67451,AAY22178,AAH04915,AAH11694,AAH13416,CAG33360,CAA32968,P16104 Hs.477879 H2A.X|H2A/X|H2AX H2AX histone|histone H2A.x protein-coding 731902 H2AFY H2A histone family, member Y Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1298632,1580863 19648962,19680243,20008927,20201926,20379614,9714746,15053874,11331621,18227505,18053270,17570398,17158748,17081983,16428466,16210244,16129414,16107708,15965484,15902274,15621527,15489334,14702039,14657027,12800201,12718888,12477932,12082075,11689053,11080476,11042152,9653160,9566873,12419249,12183056,15897469,9634239 1298632 9555 NM_138609,NM_138610,NM_001040158,AC026691,CH471062,AB209490,AF041483,AF044286,AF054174,AK023409,AK023833,AK092944,AK123153,AK296014,AY134746,BC013331,BC045570,BC095406,BE262597,CR597742,CR599382,CR600032,CR600350,CR602262,NM_004893,CR607865,CR607903,CR618025,CR618845,CR622086,CR622217,CR624310,CR624606,CR607311 NP_004884,NP_613075,NP_613258,NP_001035248,EAW62218,EAW62219,EAW62220,EAW62221,EAW62222,BAD92727,AAC33433,AAC33434,AAC39908,BAB14565,BAG58785,AAN08620,AAH13331,AAH95406,O75367,Q59FH0,ABZ92484 Hs.420272,Hs.599225 H2A.y|H2A/y|H2AF12M|H2AFJ|MACROH2A1.1|mH2A1|macroH2A1.2 OTTHUMP00000223176|core histone macro-H2A.1|histone H2A.y|histone macroH2A1|histone macroH2A1.1|histone macroH2A1.2|medulloblastoma antigen MU-MB-50.205 protein-coding 1347144 H2AFY2 H2A histone family, member Y2 1580863 11331621,15621527,15489334,15164054,14702039,14657027,12477932,11689053,11262398,11080476,9566873,16385451,19648962,20080650 55506 NM_018649,AC024601,AL731540,CH471083,AF151534,AF336304,AK022475,AK022776,AK131057,BC016172,BF439798,CR592495,CR601217,CR613322,CR613570,CR623698,CX752382 NP_061119,CAI13682,CAI13683,EAW54372,EAW54373,EAW54374,AAF72101,AAK52471,BAB14049,BAB14239,AAH16172,Q9HA11,Q9P0M6,ABZ92485 Hs.499953 macroH2A2 OTTHUMP00000019736|core histone macro-H2A.2|core histone macroH2A2.2|histone macroH2A2|mH2A2 protein-coding 731613 H2AFZ H2A histone family, member Z Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq] 19515975,19385636,19261190,18414489,17671089,17636032,17194760,16916647,16809769,16627869,16457589,16319397,15878876,15815621,15489334,14759373,14702039,14657027,12660166,12477932,11835281,11689053,11516949,11380948,11157489,11101893,11080476,11059755,10975868,9566873,8605251,8020992,7880446,7821789,3344202,1697587,11331621,17137291,19246569,19834540,19856965,20023423,20364108,19666485,20864037 3015 NM_002106,AC097460,AF304516,AJ406669,AJ406684,CH471057,L10138,AK056803,AK315413,AY597416,BC018002,BC020936,BC032524,BC039005,BC103743,CD685635,CR457415,CR599577,CR611014,CR616797,D28450,M37583,X52317 NP_002097,AAY41013,AAG25670,CAC10733,CAC10748,EAX06118,AAC61625,BAG37803,AAH18002,AAH20936,AAI03744,CAG33696,BAA05816,AAA35984,CAA36553,P0C0S5,ABM84142,ABM87544 Hs.119192 H2A.z|H2A/z|H2AZ|MGC117173 H2AZ histone|histone H2A.Z protein-coding 1347889 H2AFZP H2A histone family, member Z, pseudogene 10830953 54049 NG_000922,AB001523,AP001753,U61521 GT334|H2AFZP pseudo 1603841 H2AFZP2 H2A histone family, member Z, pseudogene 2 346990 NG_005179,AC084251 pseudo 3563843 H2AFZP3 H2A histone family, member Z pseudogene 3 728023 AL160155,NG_011430 FLJ30001 pseudo 3077583 H2AFZP4 H2A histone family, member Z pseudogene 4 100462795 AP002336,NG_021792 pseudo 2923058 H2AFZP5 H2A histone family, member Z pseudogene 5 100288330 AL391421,NG_022973 pseudo 3051028 H2AFZP6 H2A histone family, member Z pseudogene 6 100462800 AL096701,NG_022870 pseudo 1602818 H2BFM H2B histone family, member M 15772651,14702039 286436 NM_001164416,Z73497,AI018051,AK093522 NP_001157888,CAA97844,P0C1H6 Hs.376474 H2B/s|histone H2B type F-M|histone H2B.s protein-coding 1347011 H2BFO H2B histone family, member O 6326092 10339 NG_001226,AL591493,K01887,K01888 H2B/o pseudo 1351367 H2BFS H2B histone family, member S 1580863 16916647,16713563,16627869,16307923,16283522,15489334,15019208,12860195,12757711,12477932,11859126,10830953,8620898,14657027,11689053,11080476,9566873 54145 NG_006504,AB041017,AP001051,AP001751,CH471079,BC126339,BC126369 BAD74065,BAA95538,EAX09487,P57053 Hs.473961 pseudo 1606133 H2BFWT H2B histone family, member W, testis-specific Testis-specific histones, like H2BFWT, are synthesized and accumulate at specific stages of mammalian spermatogenesis. Their proposed functions range from facilitation of the replacement of somatic histones by protamines to epigenetic control of gene transcription (Churikov et al., 2004 [PubMed 15475252]).[supplied by OMIM] 19583817,16449661,15489334,15475252,15237208,12477932 158983 NM_001002916,AL034485,AY283369,CH471120,AY283370,BC038109,BC118604,BC121816,NG_016406 NP_001002916,CAI43100,AAP37489,EAX02765,EAX02766,AAP37490,AAH38109,AAI18605,AAI21817,Q7Z2G1 Hs.127778 MGC148130|MGC148131 histone H2B type W-T protein-coding 1602137 H2BFXP H2B histone family, member X, pseudogene 11181995 767811 NR_003238,AL034485,CH471120,AY730279 Hs.496530 pseudo 1317993 H3F3A H3 histone, family 3A Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq] 17172641,15669143,20153629,8889548,17194708,17189264,17052464,16916647,16710414,16497732,16457588,16341674,16267050,16258499,16185088,15851689,15776021,15684425,15681610,15674325,15664198,15616580,15525939,15498874,15489334,15471871,15345777,14718166,14657027,12909349,12871727,12773393,12560483,12529330,12477932,11856369,11850414,11751582,11689053,11591653,11562345,11278789,11242053,11080476,10911986,10464286,9566873,9441765,9334241,8586426,7821789,7309716,3031613,2859593,15834423,19633291,20110566,20211137 3020 AL512343,CH471098,X05855,X05856,X05857,AK293541,AK311905,BC013857,BC029405,BC038989,BC081561,BC095447,BM760856,CR592641,CR594694,CR600004,CR621187,D28384,NM_002107,CA310975,M11353,M11354 NP_002098,CAH73371,CAH73372,EAW69770,EAW69771,EAW69772,EAW69773,CAA29288,BAG57022,BAG34846,AAH29405,AAH38989,AAH81561,AAH95447,BAA05750,AAA52654,AAA52653,P84243,ABM83541,ABM86781 Hs.726012,Hs.728147,Hs.533624 H3.3A|H3F3|H3F3B|MGC87782|MGC87783 OTTHUMP00000035619|OTTHUMP00000035621|histone H3.3 protein-coding 1626138 H3F3AP1 H3 histone, family 3A, pseudogene 1 654505 NG_006444,AC012377,AC025168 HsT18159 pseudo 1626136 H3F3AP2 H3 histone, family 3A, pseudogene 2 664611 NG_006445,AL049829 H3F3CP pseudo 733608 H3F3B H3 histone, family 3B (H3.3B) Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is poyadenylated, unlike most histone genes. The protein encoded is a member of the histone H3 family. [provided by RefSeq] 11278789,11591653,15616580,15664198,15674325,16728976,9334241,20110566,20504901,7557364,1748304,16381901,16189514,15489336,14702039,14657027,14527345,12909349,12477932,11751582,11689053,11230166,11080476,11076863,10096020,9731536,9566873,9188772,8889548,8586426 3021 BC020466,BC108701,BM723811,BX537379,BX647280,CR591387,CR591461,CR595062,CR595544,CR595774,CR597711,CR599200,CR602412,CR602581,CR602780,CR603175,CR603793,CR603889,CR604778,CR605171,CR606388,CR608885,CR610507,CR611244,CR612972,CR613143,CR614120,CR615382,CR616111,CR617433,CR618076,CR618082,CR619729,CR621009,CR621264,CR622564,CR622957,CR624690,AC087289,CH471099,Z48950,AF218029,AK054591,AK130772,AK304607,AK312762,BC001124,BC006497,BC012813,BC017558,NM_005324,CR625366,CR625547 AAH17558,AAI08702,CAD97621,NP_005315,EAW89317,EAW89318,EAW89319,CAA88778,AAG17271,BAG65392,BAG35628,AAH01124,AAH06497,AAH12813,P84243,CAL38070,ABZ92486 Hs.699316,Hs.180877 H3.3B|H3F3A H3 histone, family 3A|histone H3.3 protein-coding 1350519 H4F3 H4 histone, family 3 3023 X60653 1315252 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq] 1625067,1580863 19935835,20200332,20211231,12477932,10497882,7106784,4169027,950237,10349511,19121282,19010388,18963204,18665910,18586838,18029348,17062770,16710414,16091483,16079116,16079115,15827106,15767211,15489334,15280030,14702039,14671302,12858176,12831846,20228249,20800603,21050867 1625067 9563 NM_004285,NG_012218,AL832271,AY409284,CH471130,Z98044,AJ012590,AK024548,AK026460,AK091191,AL833024,BC007368,BC026099,BC044256,BC069028,BC081559,BC098450,CR749282 NP_004276,EAW71613,CAI95702,CAA10071,AAH81559,CAH18137,O95479 Hs.463511 DKFZp686A01246|G6PDH|GDH|MGC87643 6-phosphogluconolactonase|G6PD, H form|GDH/6PGL endoplasmic bifunctional protein|glucose 1- dehydrogenase|glucose dehydrogenase|glucose dehyrogenase|glucose-6-phosphate dehydrogenase, salivary protein-coding 731775 HAAO 3-hydroxyanthranilate 3,4-dioxygenase 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq] 1300048,1580863 7514594,12007609,14704851,2967497,19240061,17213182,16189514,15815621,15489334,19724865,20211485,20468071,12477932,9291104,8889548 23498 NM_012205,AC098824,CH471053,AK295693,BC029510,BI602406,CB850657,CR457063,CR624693,DT215851,Z29481 NP_036337,AAY14701,EAX00309,EAX00310,EAX00311,BAG58544,AAH29510,CAG33344,CAA82618,P46952,ABM82094,ABM85276 Hs.368805 3-HAO|HAO 3-hydroxyanthranilate 3,4-dioxygenase|3-hydroxyanthranilate oxygenase|3-hydroxyanthranilic acid dioxygenase|HAD protein-coding 1350340 HABP2 hyaluronan binding protein 2 The protein encoded by this gene is an extracellular serine protease that binds hyaluronic acid and is involved in cell adhesion. The encoded protein is synthesized as a single chain, but then undergoes an autoproteolytic event to form the functional heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This protease is known to cleave urinary plasminogen activator, coagulation factor VII, and the alpha and beta chains of fibrinogen, but not prothrombin, plasminogen, or the gamma chain of fibrinogen. [provided by RefSeq] 1304486,1580863 19446554,19105210,18394684,18278202,17540775,17482622,17479202,17145954,17003923,16461761,16332249,16153533,15933067,15654766,15543324,15489334,15486068,15164054,12578864,12477932,12452440,12437095,12386823,12138371,11379758,11217080,9443814,1724753,19817990,8827452,14718574,19913121,20532885,20558613,20628086,16385451,20042707,20818495 1304486 3026 NM_004132,NG_008956,AL390197,AY534754,CH471066,AK290832,AK303759,AK303761,AK303948,BC031412,D49742,DC413026,S83182,NM_001177660 NP_004123,CAH71108,AAS16352,EAW49505,BAF83521,BAH14041,BAH14042,BAH14081,AAH31412,BAA08576,AAB46909,Q14520,ABM81746,ABM84901,NP_001171131 Hs.422542 FSAP|HABP|HGFAL|PHBP factor VII activating protein|factor VII-activating protease|factor seven-activating protease|hepatocyte growth factor activator-like protein|hyaluronan-binding protein 2|hyaluronic acid binding protein 2|plasma hyaluronan binding protein|plasma hyaluronan-binding protein protein-coding 1315131 HABP4 hyaluronan binding protein 4 1580863 16879614,16455055,16169070,15862299,15489334,15164053,15146197,14702039,14699138,12505151,12477932,10887182,9523163,1310832,20551049,14630798,18788774,19523114,6457647 22927 NM_014282,AL133477,CH471174,AA593631,AF241831,AK000610,AK025144,AK055161,AK091242,BC018788,BI757571,BQ962055,CN287447,CR596448,CR607840,CR613476,CR613789,U77327 AAC31117,Q5JVS0,NP_055097,CAI39620,CAI39621,EAW92651,EAW92652,EAW92653,AAF62546,BAG51477,BAG52315,AAH18788 Hs.494567 IHABP4|Ki-1/57|MGC825|SERBP1L IHABP-4|chromodomain helicase DNA binding protein 3 interacting protein|intracellular antigen detected by monoclonal antibody Ki-1|intracellular hyaluronan-binding protein 4|ki-1/57 intracellular antigen protein-coding 1314539 HACE1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 18630515,18391951,17903292,17694067,15489334,15254018,14574404,12477932,12421765,10718198,20546612,19448622,19528486,19965620 57531 AL357315,AL513472,AL590402,CH471051,AB037741,AJ420474,AK131207,AK291760,AK292683,AK294164,AK300314,AK311633,AK316091,AL834202,NM_020771,BC034982,BC038119,BC041919 NP_065822,CAI16815,CAH71889,CAH71890,CAH74023,CAH74024,EAW48437,EAW48438,EAW48439,BAA92558,BAG54751,BAF84449,BAF85372,BAG57487,BAG62066,BAH14462,CAD38890,AAH34982,Q8IYU2,ABM82661 Hs.434340 E3 ubiquitin-protein ligase HACE1|HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1|OTTHUMP00000016907 protein-coding 1607054 HACL1 2-hydroxyacyl-CoA lyase 1 16756494,10468558,16189514,14561759,16344560,15644336,15489334,14702039,12477932,11042152 26061 NM_012260,AC027129,CH471055,AF161397,AJ131753,AK056977,AK301546,AK301990,AK302086,BC001627,BC007440,CR608246,CR609501,DA609383,DB049608 NP_036392,EAW64251,EAW64252,EAW64253,AAF28957,CAB60200,BAG51836,BAG63043,BAG63397,BAG63473,AAH01627,AAH07440,Q7Z773,Q9UJ83,ABM86484,ABW03818 Hs.63290 2-HPCL|FLJ55041|HPCL|HPCL2|PHYH2 1600020H07Rik|2-hydroxyacyl-CoA lyase 1|2-hydroxyphytanol-CoA lyase|2-hydroxyphytanoyl-CoA lyase|phytanoyl-CoA 2-hydroxylase 2|phytanoyl-CoA hydroxylase 2 protein-coding 1351201 HADH hydroxyacyl-Coenzyme A dehydrogenase This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene. [provided by RefSeq] 2302228,2302229,2302232,2306664,2302227 9716664,8889548,8825408,1835339,975867,8687463,11256614,19318379,17065362,16344560,16176262,15489334,14702039,14693719,12477932,11489939,10931422,10840044,10347277,10231530,10068455,11451959,20332099,9185222,20562859,20877624 2302228,2302229,2302232,2306664,2302227 3033 CR590438,CR591982,CR592199,CR593079,CR616506,CR618120,DA825380,X96752,NG_008156,NM_005327,AC114733,AC118062,AF001904,AF026853,AF095703,CH471057,AF001902,AF001903,AK096018,AK314444,BC000306,BM682975,AI017358,NM_001184705 CAA65528,Q16836,ABM82345,ABM85519,NP_005318,AAY41050,AAB58153,AAD13581,EAX06218,EAX06219,EAX06220,AAB54008,AAB54009,BAG53198,BAG37053,AAH00306,NP_001171634 Hs.438289 HAD|HADH1|HADHSC|HCDH|HHF4|M/SCHAD|MGC8392|MSCHAD|SCHAD L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain|OTTHUMP00000162626|OTTHUMP00000219688|hydroxyacyl-coenzyme A dehydrogenase, mitochondrial|medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase|short-chain 3-hydroxyacyl-CoA dehydrogenase protein-coding 733877 HADHA hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq] 1599882,1599884,1600572,1580863,2317625 20532202,20589231,20814823,18029348,19064571,19170196,19615732,19625176,19692168,19737925,18063578,18676680,18485779,18045290,18031367,17313315,17199921,17143551,17081983,15952740,15489334,15347768,15146197,14630990,12971430,12754706,12477932,12413376,12118083,11978893,10075708,9739053,9605857,9266371,9003853,8921383,8865274,8770876,8163672,7958339,7918661,7846063,7811722,7738175,1550553,8135828,20562859,20736409,20877624,20825197 1599882,1599884,1600572,2317625 3030 NM_000182,NG_007121,AB020811,AC010896,AC011742,CH471053,AI972144,AK293398,AK299258,AK302532,AK313027,BC009235,CN264228,CR622711,CR626125,D16480,FJ626228,U04627,GU727642 NP_000173,BAA76735,AAY14643,AAX93141,EAX00703,EAX00704,BAG56906,BAG61288,BAG63804,BAG35861,AAH09235,BAA03941,AAA56664,P40939,Q53T69,Q53TA2,Q9UQC5,ABM83702,ABM87022,ADU87643 Hs.516032 ECHA|GBP|HADH|LCEH|LCHAD|MGC1728|MTPA|TP-ALPHA 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit|3-oxoacyl-CoA thiolase|78 kDa gastrin-binding protein|gastrin-binding protein|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a hiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit|long-chain 2-enoyl-CoA hydratase|long-chain-3-hydroxyacyl-CoA dehydrogenase|mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit|mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit|mitochondrial trifunctional enzyme, alpha subunit|mitochondrial trifunctional protein, alpha subunit|trifunctional enzyme subunit alpha, mitochondrial protein-coding 1353536 HADHAP hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase pseudogene (gastrin binding protein pseudogene) 19565490,7918661 3031 NG_000863,AC012504,U04628 HADHAP pseudo 3378737 HADHAP2 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 399994 AC092184,NG_005587 pseudo 736480 HADHB hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. Mutations in this gene result in trifunctional protein deficiency. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq] 1600786,1600572,1600779,1600782,1600788,1580863,2317625 19699128,1550553,8135828,18063578,17199921,16344560,15815621,15489334,15242332,14702039,14630990,12933794,12754706,12721663,12665801,12477932,9739053,9605857,9259266,8921383,8651282,8163672,20877624,7958339,11430884,20825197,20562859 1600786,1600572,1600779,1600782,1600788,2317625 3032 NM_000183,NG_007294,AB020811,AC010896,CH471053,D86850,AF113209,AK095278,AK130072,AK293142,AK302322,AK304455,AK314455,BC014572,BC017564,BC030824,BC066963,CR596000,CR596672,CR597780,CR598353,CR599982,CR608278,CR609244,CR626668,D16481,DA835045,DB477128 NP_000174,AAY14644,EAX00700,EAX00701,EAX00702,BAA22061,AAG39280,BAG56690,BAG63658,BAG65272,BAG37063,AAH14572,AAH17564,AAH30824,AAH66963,BAA03942,P55084,ABM83648,ABM86897 Hs.515848 ECHB|MGC87480|MSTP029|MTPB|TP-BETA 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit|3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit|acetyl-CoA acyltransferase|beta-ketothiolase|hydroxyacyl-Coenzyme A (CoA) dehydrogenase, beta subunit|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit|mitochondrial trifunctional enzyme, beta subunit|mitochondrial trifunctional protein, beta subunit|trifunctional enzyme subunit beta, mitochondrial protein-coding 736814 HAGH hydroxyacylglutathione hydrolase The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. [provided by RefSeq] 1300048,1580863 16289162,20237496,11157797,10508780,7585456,7327557,6463589,3663711,3382669,3025077,2164460,1459997,1192606,20877624,8550579,19413286,18344682,16831876,16803681,15616553,15489334,15117945,12477932,12204678,12012344,11368412 3029 NG_023249,NM_005326,NM_001040427,AC012180,AE006639,CH471112,AK290155,AK298174,AK299173,AK299993,AK308825,AY576804,BC000840,BC002627,BG703401,BI758286,BU176541,CR611189,CR612350,CR614453,CR620966,DB502986,DR006636,X90999 NP_005317,NP_001035517,AAK61294,EAW85609,EAW85610,EAW85611,BAF82844,BAG60445,BAG61219,BAG61813,AAH00840,AAH02627,CAA62483,Q16775,ABM82146,ABM82147,ABM85329,ABW03710 Hs.157394 GLO2|GLX2|GLXII|HAGH1 glx II|glyoxalase II|hydroxyacyl glutathione hydrolase|hydroxyacylglutathione hydrolase, mitochondrial|hydroxyacylglutathione hydroxylase protein-coding 1317582 HAGHL hydroxyacylglutathione hydrolase-like 14702039,12477932,11157797,17207965,20237496 84264 NM_207112,NM_032304,AE006464,CH471112,AB209331,AK054841,AK098340,BC004353,BC015008,BC033796,BC036747,BG338261,BG469685,BI333301,BI818409,CR592523,AK293575 NP_996995,NP_115680,AAK61250,EAW85725,EAW85726,EAW85727,EAW85728,EAW85729,EAW85730,EAW85731,EAW85732,EAW85733,BAD92568,BAB70814,AAH04353,AAH15008,AAH33796,Q6PII5,ADQ32666,BAG57045 Hs.124015 MGC2605 GLO2-like/ RJD12|hydroxyacylglutathione hydrolase-like protein protein-coding 68517 HAL histidine ammonia-lyase Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids [provided by RefSeq] 1300048,1580863 20237496,15806399,18641401,18280705,15741241,15489334,12477932,8530107,7916645,2055114 3034 AK297004,NM_002108,NG_008180,AB042217,AB191160,AB191161,AB191162,AB191163,AB191164,AB191165,AB191166,AB191167,AC007298,AC126174,CH471054,D43619,AK298736,AK303544,BC096096,BC096097,BC096098,BC096099,D16626 BAG59540,NP_002099,BAB61863,BAE72109,BAE72110,BAE72111,BAE72112,BAE72113,BAE72114,BAE72115,BAE72116,EAW97554,EAW97555,EAW97556,BAG60883,BAG64570,AAH96096,AAH96097,AAH96098,AAH96099,BAA04047,P42357,Q2PH55,Q2PH56,Q2PH57,Q2PH58,Q2PH59,Q2PH60,Q2PH61,Q4VB95 Hs.190783 HIS|HSTD histidase|histidine ammonia lyase|histidine ammonia-lyase protein-coding 736414 HAMP hepcidin antimicrobial peptide The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq] 727307,704404,1599358,1580863 19681654,20587610,11113131,11034317,19679815,19610021,19589941,19478464,19414861,19292870,19291818,19254567,19252486,19214511,19150361,19070948,19059216,19032104,18970934,18827264,18809758,18775801,18762941,18758412,18694648,18680715,18676162,18671304,18641032,18603562,18556388,18544472,18541040,18495462,18462824,18421430,18333366,18326817,18322945,18278547,18073346,18023212,17962361,17951471,17905609,17905608,17847004,17768112,17766053,17721544,17613866,17559363,17488680,17331161,17229647,17229646,17112858,16962038,16952548,16946298,16937259,16929540,16835372,16769583,16769573,16737972,16460831,16315135,16204153,16103673,15998830,15933050,15831700,15797999,15725899,15685557,15671438,15514116,15489334,15198949,15178582,15124018,15124013,15057824,14702039,14670915,14630809,12975309,12915468,12663437,12637325,12477932,12469120,12433676,12393428,12138110,12010514,11836175,11113132,18304682,17577979,19093740,19231148,19287179,19346972,19387685,19423366,19454498,19483160,19541813,19553669,20937842,20653062,20679527,20800515,20655381,21039223,20007134,19652026,19652645,19656379,19711434,19715836,19729219,19734422,19740974,19787796,19850683,19882752,19907144,19924283,20019408,20026331,20113314,20124516,20191031,20102409,20620527,19816411,19890342,20299375,20502037,20526394,20660052 727307,1599358 57817 AF131292,AF147355,AF309489,AJ277280,AK096110,AY358669,BC020612,NM_021175,NG_011563,AD000684,DQ496109 AAK14912,AAG23966,CAC09419,AAQ89032,AAH20612,P81172,NP_066998,ABF47098 Hs.8821 HEPC|HEPCIDIN|HFE2B|LEAP-1|LEAP1|PLTR hepcidin|liver-expressed antimicrobial peptide 1|putative liver tumor regressor protein-coding 737010 HAND1 heart and neural crest derivatives expressed 1 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq] 1580863 9931445,19060921,18276607,16043483,15509787,15489334,14636580,12858532,21076409,11802795,10924525,10837146,10611232,10189962,9337404,8012384,1182795,12477932,11812799,19586923 9421 NM_004821,AC026688,AF063012,CH471062,Z63841,AF061756,BC021190,CR591821,CR594436,CR623464 NP_004812,AAD19283,EAW61636,AAD19280,AAH21190,O96004,ABZ92217 Hs.152531 Hxt|Thing1|bHLHa27|eHand class A basic helix-loop-helix protein 27|extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1|heart- and neural crest derivatives-expressed protein 1 protein-coding 731603 HAND2 heart and neural crest derivatives expressed 2 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq] 9500550,9878849,19348682,19008477,16467358,16280598,15351717,14702039,14636580,14506227,12858532,12477932,11994297,11812799,11076755,10924525,10189962,20634891,20819618 9464 NM_021973,AC093849,AF087941,CH471056,AF087940,AK122739,BC101406,BC101974,BC109383,BF313018,FJ226608 NP_068808,AAD13186,EAX04749,EAX04750,AAD13185,BAG53697,AAI01407,AAI01975,AAI09384,ACI42790,P61296,Q32LY2,Q3T1D5,Q494T1 Hs.388245 DHAND2|FLJ16260|Hed|MGC125303|MGC125304|Thing2|bHLHa26|dHand OTTHUMP00000218982|basic helix-loop-helix transcription factor HAND2|class A basic helix-loop-helix protein 26|deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2|dhand protein|heart- and neural crest derivatives-expressed protein 2 protein-coding 1353845 HAO1 hydroxyacid oxidase (glycolate oxidase) 1 This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq] 1580863 10777549,18215067,17669354,15489334,12477932,11780052,10978532,9891009,14623081,15956068,20054120,20189245 54363 AF244134,AK289423,AK308963,AK313839,AL121739,BC113665,BC113667,NM_017545,AL021879,CH471133,AB024079,AF231916,HB890852,HC948261 AAF40199,AAF63219,BAF82112,BAG36571,CAB57329,AAI13666,AAI13668,Q9UJM8,NP_060015,CAC34364,EAX10379,EAX10380,EAX10381,BAA82872,ADR82966,CBF69668,CBU94371 Hs.193640 GOX|GOX1|HAOX1|MGC142225|MGC142227 (S)-2-hydroxy-acid oxidase|glycolate oxidase|hydroxyacid oxidase 1 protein-coding 1346012 HAO2 hydroxyacid oxidase 2 (long chain) This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed predominantly in liver and kidney and has the highest activity toward the substrate 2-hydroxypalmitate. Two alternatively spliced variants encoding the same isoform have been described. [provided by RefSeq] 1580863 10777549,16710414,15489334,12477932,16712791,19692168,20877624 51179 CB121424,NM_016527,NG_011967,AL139346,AL359553,CH471122,AF203975,AF231917,AK298289,AY513277,BC020863,BG428999,NM_001005783 Q5QP00,Q9NYQ3,ABM86089,ABW03772,NP_001005783,NP_057611,CAC19798,CAI23077,CAI23078,EAW56698,EAW56699,AAF14000,AAF40200,BAG60549,AAT08030,AAH20863 Hs.659767 GIG16|HAOX2 (S)-2-hydroxy-acid oxidase, peroxisomal|cell growth-inhibiting gene 16 protein|glycolate oxidase|growth-inhibiting protein 16|hydroxyacid oxidase 2|long chain alpha-hydroxy acid oxidase|long-chain L-2-hydroxy acid oxidase protein-coding 736448 HAO3 hydroxyacid oxidase (glycolate oxidase) 3 1300048 51273 68454 HAP1 huntingtin-associated protein 1 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 68261,1302538,1580863,1300048 9361024,18922795,18192679,17569884,16713569,16344560,16169070,15737634,14702039,12881483,12021262,10974549,10087300,9798945,9742138,9668110,9599014,9454836,7477378,15654337,16712791,15383276,19262167,19996106,20512606 68261,1302538 9001 U38371,NM_001079870,NM_001079871,NM_177977,AC109319,AJ012824,AJ224877,CH471152,AB209105,AF040723,AK022007,CB128405,DA203084,DA231862 AAC50297,P54257,AAI56729,NP_001073339,NP_001073340,NP_817084,CAC09418,CAB82785,EAW60757,EAW60758,EAW60759,EAW60760,EAW60761,BAD92342,AAC39861,BAB13952 Hs.158300 HAP2|HIP5|HLP|hHLP1 HAP-1|huntingtin-associated protein 1|huntingtin-associated protein 2|neuroan 1 protein-coding 1346855 HAPLN1 hyaluronan and proteoglycan link protein 1 1580863 20584105,2286376,19556317,19351750,17903305,15590670,15489334,15456769,14724283,12888576,12663660,12429048,11493848,11038300,11027579,10198161,9712087,7945259,7694569,2738916,2336413,2320422,2030970,1725805,17207965,20950796,20953637,12477932,19834535,20453000 1404 NM_001884,AC020899,CH471084,AK313713,BC057808,CR597704,CR605965,M63579,U43328,X17405,X78076 NP_001875,EAW95912,EAW95913,EAW95914,BAG36456,AAH57808,AAA85216,CAA35462,P10915,ADQ32992 Hs.2799 CRTL1 Cartilage link protein|OTTHUMP00000222407|OTTHUMP00000223069|cartilage linking protein 1|cartilage-link protein|cartilage-linking protein 1|hyaluronan and proteoglycan link protein 1|proteoglycan link protein protein-coding 1351001 HAPLN2 hyaluronan and proteoglycan link protein 2 1580863 19034380,15489334,14702039,12663660,12477932,11873941,11817897,11027579,19633295,20950796 60484 NM_021817,AB049061,AL365181,CH471121,AB049054,AK090712,AK293797,AK294131,AK308805,AK308980,AK310758,BC029864 NP_068589,BAB17669,CAI13054,CAI13055,EAW52933,EAW52934,BAB17662,BAG52217,BAH11597,BAH11680,AAH29864,Q5T3J0,Q5T3J1,Q9GZV7 Hs.410719 BRAL1 OTTHUMP00000031988|brain link protein 1|brain link protein-1|hyaluronan and proteoglycan link protein 2 protein-coding 1317673 HAPLN3 hyaluronan and proteoglycan link protein 3 This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq] 1580863 12975309,15489334,12663660,12477932,17207965,20664984,20950796 145864 NM_178232,AC067805,AC103982,CH471101,AK292055,AK292103,AY037161,AY262759,AY358500,BC053689,BC062320,CR613805 NP_839946,EAX02022,EAX02023,EAX02024,BAF84744,BAF84792,AAK67639,AAP22051,AAQ88864,AAH62320,Q96S86,ADQ32130 Hs.447530 EXLD1|HsT19883 extracellular link domain containing, 1|hyaluronan and proteoglycan link protein 3 protein-coding 1348635 HAPLN4 hyaluronan and proteoglycan link protein 4 1580863 19633295,14550776,12663660,12477932,11572484,20950796 404037 NM_023002,AC138430,CH471106,AB107883,AL389941,AY262756,BC142644,BC142698 NP_075378,EAW84804,BAC79077,AAP22048,AAI42645,AAI42699,Q86UW8 Hs.367829 BRAL2|KIAA1926 brain link protein 2|hyaluronan and proteoglycan link protein 4 protein-coding 1346103 HAPP huntingtin-associated protein 1, pseudogene 68261 68261 8304 P54255 U38372 1601892 HAR1A highly accelerated region 1A (non-protein coding) 18054202,16915236,12477932 768096 NR_003244,AL096828,BC035016,BC047717,DQ860409 Hs.549606 HAR1F|NCRNA00064 miscrna 1601891 HAR1B highly accelerated region 1B (non-protein coding) 16915236 768097 NR_003245,AL096828,DQ860410,DQ860411 Hs.635159 HAR1R|NCRNA00065 miscrna 1601808 HARBI1 harbinger transposase derived 1 20694011,18339812,16341674,15489334,15169610,14702039,12477932 283254 NM_173811,AC127035,CH471064,AK057237,BC036925,BM768489 NP_776172,EAW67992,EAW67993,EAW67994,BAB71391,AAH36925,Q96MB7 Hs.714463 C11orf77|FLJ32675 harbinger transposase-derived nuclease|putative nuclease HARBI1 protein-coding 1350214 HARS histidyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. 1580863 1549469,7755634,17785330,17665459,15489334,14702039,12802020,12477932,12471150,12056811,11829477,9373149,8929351,8406012,8125298,8049265,3554142,2996334,2023220,3464104 3035 NM_002109,AC116353,CH471062,M96646,U18936,AK000498,AK055917,AK124831,AK225776,AK307669,AY995220,BC011807,BC080514,CR595110,CR596101,CR607453,CR608398,CR609422,X05345,Z11518,AK293154,AK293531,AK295219,AK302295,AK303778 NP_002100,EAW62021,EAW62022,EAW62023,AAA58668,AAA73973,BAG54103,AAX99363,AAH11807,AAH80514,CAA28956,CAA77607,P12081,Q52NV4,BAG56699,BAG57013,BAG58213,BAG63635,BAG64737 Hs.528050 FLJ20491|HRS HisRS|OTTHUMP00000223661|OTTHUMP00000223662|histidine tRNA ligase 1, cytoplasmic|histidine translase|histidine--tRNA ligase|histidine-tRNA ligase|histidyl-tRNA synthetase, cytoplasmic protein-coding 1352732 HARS2 histidyl-tRNA synthetase 2, mitochondrial (putative) Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes share a bidirectional promoter. [provided by RefSeq] 1580863 20381070,17081983,8406012,1549469,7755634,15489334,12477932,10430027,9445076,20877624 23438 NG_021415,NM_012208,AC116353,CH471062,U18936,AK293269,AK293390,AK298661,AK299971,AK309832,AK311277,AK312976,BC007680,BC014982,CR613950,CR617548,U18937 NP_036340,EAW62019,EAW62020,AAA73972,BAG56799,BAG56899,BAG60829,BAG61797,BAG35813,AAH07680,AAH14982,AAA73974,P49590,ABM83567,ABW03517 Hs.432560 HARSL|HARSR|HO3 HARS-related|OTTHUMP00000223668|hisRS|histidine tRNA ligase 2, mitochondrial (putative)|histidine translase|histidine-tRNA ligase homolog|histidyl-tRNA synthetase-like|histidyl-trna synthetase-like|probable histidyl-tRNA synthetase, mitochondrial protein-coding 1343910 HAS1 hyaluronan synthase 1 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. [provided by RefSeq] 1580863 17353931,8798544,9169154,19435493,19362966,19148550,18815290,18400745,18199543,17922656,17904513,17611197,16786194,16723203,16564133,16258173,15870928,15794859,15731173,14636845,12720129,12477932,12239172,11790779,10093717,8651928,3099751,19451652,19577615,19737932,20072653 3036 NM_001523,AC018755,CH471135,AY916554,AY916555,AY916556,BC035837,CR602106,D84424,U59269 NP_001514,AAF87845,EAW72038,EAW72039,AAY52130,AAY52131,AAY52132,AAH35837,BAA12351,AAC50706,Q4VHE4,Q4VHE5,Q4VHE6,Q8IYH3,Q92839,ABM82145,ABM85328 Hs.57697 HAS HA synthase 1|huHAS1|hyaluronan synthase 1|hyaluronate synthase 1|hyaluronic acid synthase 1 protein-coding 732743 HAS2 hyaluronan synthase 2 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq] 1580863 19416972,19577615,20072653,20379614,9169154,19435493,19231585,18587729,17872502,17611197,17315194,17307735,16807238,16786194,16687630,16603733,16564133,15922739,15843373,15722343,15677552,15642402,15489334,14988410,14752026,14636845,12477932,11790779,10093717,8798477,20522558 3037 NM_005328,AC022909,AC104233,CH471060,CS279104,AK297724,BC069353,BC109071,BC109072,U54804,CS389034,CS409308,CS410366 NP_005319,EAW92010,CAJ87378,BAG60078,AAH69353,AAI09072,AAI09073,AAC50692,Q92819,CAL40919,CAL44783,CAL47700 Hs.159226 MGC126241|MGC126242 HA synthase 2|hyaluronan synthase 2|hyaluronate synthase 2|hyaluronic acid synthase 2 protein-coding 2300354 HAS2AS HAS2 antisense RNA (non-protein coding) 15843373,17903294 594842 NR_002835,AC104233,AY941178,BX101304 HAS2-AS|HAS2AS|HASNT|NCRNA00077 miscrna 1350380 HAS3 hyaluronan synthase 3 The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,9169154,19435493,19231585,18587729,16786194,16564133,14636845,14566823,12477932,11851874,11790779,11431361,11378333,11278609,9083017,10794710,18821565 3038 NM_138612,NM_005329,AC009027,CH471092,U86409,AF232772,AF234839,AW294351,BC021853,FJ648810,FJ648811,AK291400,NM_001199280 NP_619515,NP_005320,EAW83247,EAW83248,AAC51209,AAF36984,AAK73797,BAF84089,AAH21853,ACN41863,ACN41864,O00219,Q8WTZ0,Q96RV2,NP_001186209 Hs.592069 HA synthase 3|hyaluronan synthase 3|hyaluronate synthase 3|hyaluronic acid synthase 3 protein-coding 1313912 HAT1 histone acetyltransferase 1 The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq] 1580863,2316578 9427644,18458078,17081983,17052979,16344560,15815621,15489334,12477932,12408818,11585814,11492997,11329013,10911985,12775419,17207965,19815555,20562859,19615732,19862764 2316578 8520 NM_003642,NR_027862,AC015976,AC114745,CH471058,AF030424,AK127840,AK309001,AK313699,BC018682,BC045673,BC063003,BG184638,CR592532,CR600659,CR608151,DB050336 NP_003633,AAY14731,AAX93247,EAX11194,EAX11195,AAC02425,AAH18682,AAH63003,O14929,Q6P594,Q8WWB9,ADQ32532 Hs.632532 KAT1 histone acetyltransferase type B catalytic subunit protein-coding 1346730 HAUS1 HAUS augmin-like complex, subunit 1 737633,1580863 19427217,15489334,15232106,15082789,14702039,12477932,18443220,19369198,19615732 737633 115106 AK097403,AK315605,AY360137,BC005958,BC014003,CR599261,CR601181,AK024747,NR_026978,NM_138443,AC012569,CH471088 BAC05036,BAG37974,AAQ63649,AAH05958,AAH14003,Q96CS2,EAX01469,NP_612452 Hs.436617 CCDC5|FLJ21094|FLJ40084|HEI-C|HEIC|HsT1461 HAUS augmin-like complex subunit 1|coiled-coil domain containing 5 (spindle associated)|coiled-coil domain-containing protein 5|enhancer of invasion-cluster protein-coding 1321425 HAUS2 HAUS augmin-like complex, subunit 2 737633 14654843,19427217,16344560,15489334,14702039,12477932,12434312,16169070,11076968,12221128,12852856,16462731,18443220,19369198,7790358 737633 55142 NM_018097,NM_001130447,AC018362,CH471125,CS300643,CS300644,AI368236,AK001322,AK022939,BC010903,DA923763,DB450370 NP_060567,NP_001123919,EAW92566,EAW92567,EAW92568,EAW92569,EAW92570,EAW92571,EAW92572,CAK32307,CAK32308,BAA91623,BAB14319,AAH10903,Q9NVX0 Hs.14347 C15orf25|CEP27|FLJ10460|HsT17025 HAUS augmin-like complex subunit 2|centrosomal protein 27kDa|centrosomal protein of 27 kDa|chromosome 15 open reading frame 25 protein-coding 1312658 HAUS3 HAUS augmin-like complex, subunit 3 737633 19369198,19427217,14702039,12477932,19812674,18443220 737633 79441 NM_024511,AL158068,CH471131,AF040964,AK056134,AK293948,BC003648,BC025356,CR749640 NP_078787,EAW82537,AAB97010,BAG57325,AAH03648,AAH25356,CAH18434,Q68CZ6,Q8TAZ5 Hs.665869 C4orf15|DKFZp686I1868|IT1|MGC4701|dgt3 HAUS augmin-like complex subunit 3 protein-coding 1313228 HAUS4 HAUS augmin-like complex, subunit 4 19427217,15790807,15489334,14702039,12477932,19369198 54930 NM_017815,AL132780,CH471078,AK000431,AK026016,AK057779,AY927599,BC001916,BC002554,BX247981,BX247995,BX248256,CR592027,CR595913,CR598312,CR607287,CR609131,CR616246,CR618417,CR620038,CR621122,AK097980,BQ066232,NM_001166269,NM_001166270 NP_060285,EAW66206,EAW66207,EAW66208,EAW66209,EAW66210,EAW66211,EAW66212,EAW66213,EAW66214,EAW66215,BAA91161,BAB15322,AAH01916,AAH02554,CAD62315,CAD62328,CAD62584,Q9H6D7,NP_001159741,NP_001159742 Hs.442782,Hs.727321 C14orf94|FLJ20424|FLJ40661 HAUS augmin-like complex subunit 4|OTTHUMP00000164554|homologous to Augmin subunits protein-coding 1317198 HAUS5 HAUS augmin-like complex, subunit 5 737633 19427217,15489334,12477932,10048485,18443220,19369198 737633 23354 NM_015302,AC002115,AB020648,AK307703,BC013947,BC064390,BC157882,BC171905 NP_056117,BAA74864,AAH13947,AAH64390,AAI57883,O94927,AAI60190 Hs.7426 KIAA0841|dgt5 HAUS augmin-like complex subunit 5 protein-coding 1320176 HAUS6 HAUS augmin-like complex, subunit 6 737633 19427217,19029337,18443220,16964243,16565220,16381901,15489336,15489334,15164053,14702039,12477932,11230166,11076863,10997877,9373149,8125298,18029348,19369198,20379614 737633 54801 NM_017645,AL356000,AL591206,CH471071,AB046794,AF533709,AF537091,AK000067,AK022964,AK023068,AK056458,AK225209,AK301852,AL832495,BC010632,BC026178,BC065935,BC071625,BC111041,BC113981,BC114492 NP_060115,CAH72132,CAH72133,CAI12262,CAI12263,CAI12264,EAW58652,BAB13400,AAQ09022,AAN05700,BAA90922,BAB14334,BAB14388,BAG51716,BAG63294,AAH10632,AAH26178,AAH65935,AAH71625,AAI11042,AAI13982,AAI14493,Q05CG1,Q14CB6,Q2TA91,Q5SYF9,Q5VY60,Q7Z4H7,CAL38345 Hs.533468 Dgt6|FAM29A|MGC102696|MGC138798|MGC138799|RP11-296P7.3 HAUS augmin-like complex subunit 6|OTTHUMP00000021101|dim gamma-tubulin homolog|family with sequence similarity 29, member A protein-coding 1604614 HAUS7 HAUS augmin-like complex, subunit 7 This gene encodes a protein identified by interaction with ubiquitin C-terminal hydrolase 37, which functions to edit polyubiquitin chains on ubiquitinated substrates. This protein is a subunit of the multisubunit augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. [provided by RefSeq] 9099879,17426129,19447967,11163772,19369198,19427217,18029348,16395595,16381901,16344560,15489336,15489334,12477932,11256614,11076863,16189514 55559 NM_017518,NG_012688,CH471172,AF267739,AK125219,AK296147,AK300650,AK302066,AL122036,BC008141,BC047613,BC113839,CA441020,CR614042,DA272550 NP_059988,EAW72866,EAW72868,EAW72869,EAW72871,EAW72874,AAF75785,BAC86087,BAG58886,BAG62338,BAG63456,CAB59176,AAH08141,Q99871,CAL38035 Hs.170835 HSXQ28ORF|UCHL5IP|UIP1 26S proteasome-associated UCH interacting protein 1|26S proteasome-associated UCH37-interacting protein 1|HAUS augmin-like complex subunit 7|UCH37 interacting protein 1|UCHL5 interacting protein|UCHL5-interacting protein|X-linked protein STS1769|expressed-Xq28STS protein protein-coding 1604254 HAUS8 HAUS augmin-like complex, subunit 8 19427217,18362163,12601173,12477932,18443220,19369198,19776357 93323 NM_033417,NM_001011699,AC020908,CH471106,AK295994,AY211919,BC004398,BC010176,BC040564,BI829542,BM563712,BX111116,CR594325,CR594374,CR605479,CR615424,CR622261 NP_219485,NP_001011699,EAW84570,EAW84571,BAG58769,AAO65172,AAH04398,AAH10176,Q9BT25 Hs.404088 DGT4|HICE1|MGC20533|NY-SAR-48 HAUS augmin-like complex subunit 8|HEC1/NDC80 interacting, centrosome associated 1|HEC1/NDC80-interacting centrosome-associated protein 1|Hec1-interacting and centrosome-associated 1|sarcoma antigen NY-SAR-48 protein-coding 1352552 HAVCR1 hepatitis A virus cellular receptor 1 1580863 20571754,20304168,19494522,19476019,19424017,19264973,19258923,19247692,19173034,19060906,18802347,18769021,18715847,18466531,18453570,18294362,18273441,18165774,18082433,18052965,17703412,17570927,17371991,17229699,17205356,17117951,16940744,16713569,16481347,16344560,15867855,15489334,15300647,15086915,15007635,14637143,14630400,14534576,12893810,12618867,12477932,12138159,11725301,9658108,9557657,20447817,20233133,19167431,19387469,19480659,19522876,19572801,20070602,20232767,20237496,20331378,20479636,20503287,20549518,20972250 26762 NM_012206,NM_001099414,AC026777,CH471062,AF043724,AK298259,AW604297,BC013325,CR457114,DA378449,DA384612,NG_017001,NM_001173393,AB607987 NP_036338,NP_001092884,EAW61615,EAW61616,AAC39862,BAG60523,AAH13325,CAG33395,Q96D42,ABM83696,ABM87018,NP_001166864,BAJ61033 Hs.129711 HAVCR|HAVCR-1|KIM-1|KIM1|TIM-1|TIM1|TIMD1 T cell immunoglobin domain and mucin domain protein 1|T-cell membrane protein 1|TIM|TIMD-1|hepatitis A virus cellular receptor 1|kidney injury molecule 1 protein-coding 1313140 HAVCR2 hepatitis A virus cellular receptor 2 CD4 (MIM 186940)-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells and their associated cytokines are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. The 2 types of cells also cross-regulate the functions of the other. TIM3 is a Th1-specific cell surface protein that regulates macrophage activation and enhances the severity of experimental autoimmune encephalomyelitis in mice.[supplied by OMIM] 1580863 19566956,19494522,19414817,19332093,19258923,19104436,19100864,19005181,19001139,18785518,18485114,18401547,18354161,18294362,18052965,18006747,20133006,17703412,17665973,17430399,17096021,17069754,16940744,16754722,16685421,16456792,16286920,16159638,15867855,15603868,15489334,15325803,15153541,14702039,14556006,14556005,12477932,11823861,20656318,17207965,21048031,20819923,21084749,19913121,20574007,20628086,20811886,19395088,19480659,19587053,19676072,19768575,19789190,20083673,20176801,20331378,20503287 84868 NM_032782,AC011377,CH471062,AF251707,AF450242,AF450243,AK027334,AK130144,AK314406,AY069944,BC020843,BC063431,CQ834184 NP_116171,EAW61613,EAW61614,AAM19100,AAL65157,AAL65158,BAB55044,BAG37029,AAL55401,AAH20843,AAH63431,Q8TDQ0,ADQ32599,CAH05307 Hs.710500 FLJ14428|KIM-3|TIM3|TIMD3|Tim-3 HAVcr-2|T cell immunoglobulin mucin 3|T cell immunoglobulin mucin-3|T-cell immunoglobulin and mucin domain-containing protein 3|T-cell membrane protein 3|TIMD-3|hepatitis A virus cellular receptor 2|kidney injury molecule-3 protein-coding 1607073 HAX1 HCLS1 associated protein X-1 The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20220065,11554782,10760273,9058808,19298594,19254774,18971376,18611981,18513342,18472110,18399350,18337561,18330843,18319618,18055975,17929250,17187068,16971486,16857965,16189514,15489334,15159385,12787133,12477932,16169070,20388708,17207965,19913549,20631090,15339924,17010949,19524642,19605487,19679660,19680265,19796188,19928538,20171186,20406461,20696135,20196840 10456 NM_006118,NM_001018837,NG_007369,AL354980,CH471121,AK290626,AK294298,AK300676,AK310000,AK311450,AK313291,BC005240,BC014314,BC015209,BC016730,BF668367,CR593289,CR602994,CR603784,CR609915,CR611031,CR618741,EU190982,EU190983,U68566 NP_006109,NP_001018238,CAH70479,CAH70480,CAH70481,EAW53212,BAF83315,BAG57580,BAG62359,AAH05240,AAH14314,AAH15209,AAH16730,ABW73998,ABW73999,AAB51196,O00165,ADQ31612 Hs.199625 FLJ17042|FLJ18492|FLJ93803|HCLSBP1|HS1BP1|SCN3 HAX-1|HCLS1 (and PKD2) associated protein|HCLS1-associated protein X-1|HS1 binding protein|HS1-associating protein X-1|HS1-binding protein 1|HSP1BP-1|OTTHUMP00000034191|OTTHUMP00000034192 protein-coding 1351471 HBA1 hemoglobin, alpha 1 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq] 1600805,1600800,1600808,1600818,1600802,1600810 20308881,18932071,19533865,19390853,19371220,19359777,19341324,19288145,19215610,19189299,19168253,19135755,19119852,19096518,3839774,3839772,3781866,3754246,3754245,3667323,3654264,3623974,3583765,3454663,3384699,3384694,3236367,3142772,3026948,2869010,2833478,2831226,2752146,2703370,2649166,2634670,2634669,2634665,2606724,2599879,2599878,2574721,2500435,2411938,2347082,2283295,2272835,2117321,2108715,2101836,2079432,2079430,1983218,1975428,1802885,1802882,1686260,1671772,1634363,1634357,1634355,1618774,1549498,1512262,1511986,1486044,1428951,1428950,1428941,1259994,1225585,1191675,1182166,1177322,1174563,1164512,1138883,1115799,1115797,949045,949043,902765,901812,893135,893131,893128,852596,849454,822353,750553,740406,701092,701083,640856,640847,640841,604316,508945,478977,478976,478975,270752,234399,108887,31339,16169070,6644819,12646258,7275668,7275663,7275660,7238857,7216818,7213661,7161110,7161109,7068437,7055587,7010180,6946451,6882779,6874377,6874376,6860428,6841125,6815131,6814490,6805217,6783600,6691995,6618889,6548207,6547932,6547117,6526652,6500991,6469697,6469696,6452630,6403040,6317690,6308667,6297773,6244294,6188720,6153381,6089189,6082248,6038433,6034517,6032878,5988206,5972865,5967288,5927878,5913291,5870555,5782754,5782115,5780195,5714528,5696551,5675638,5650416,5639009,5460202,5453914,5436649,5410724,5356548,5129592,5122655,5115619,5085670,5085669,5081617,5033650,4986187,4982774,4971935,4961849,4834679,4824923,4744335,4743350,4719146,4646552,4600474,4550395,4528583,4429803,4429670,4347947,4228361,4212045,4135409,3997545,3973024,3937826,3937825,3935608,3841101,3839776,3839775,18932070,18809301,18772456,18694998,18689979,18667812,18654888,18609043,18582194,18571503,18485513,18458302,18215251,18211634,18166800,17938644,17916326,17724704,17691822,17626702,17512924,17394396,17351274,17191128,17132905,17129226,17070510,17040989,16933182,16898315,16822864,16760505,16728641,16545695,16540409,16466950,16370488,16302974,16123516,16042697,15941417,15921165,15921163,15882059,15824313,15768555,15616553,15495251,15489334,15481890,15365991,15182057,15008266,15008263,15008259,14649316,14649314,14576901,14508795,14236737,14093912,13954546,13872627,13863929,13703277,13500096,13454817,13260359,12779278,12673836,12667291,12665801,12525687,12477932,12200073,12054662,11939522,11939517,11877072,11833853,11791872,11570726,11558897,11499613,11410421,11402454,11304851,11157797,10722119,10722118,10569723,10569720,10477710,10206681,9665850,9494049,9494044,9373149,9322075,9269086,9215129,9054936,8745434,8537233,8537232,8537231,8448109,8294200,8294199,8195005,8195004,8148419,8125298,7811728,7786798,7713747,7615398,7558876,7555018,7518430,7470621,7448866,7448125,7402334,7390865,7389895,7380113,7378457,7373648,7358733,7338471,20353346,21062041,20682466,20854119,19492149,20598923,18343267,19482015,19535894,19614793,19651813,19657833,19667949,19766903,19774216,19843387,19929282,20080971,20103712,20144437,20171600,20190015,20215002,20398260 1600805,1600800,1600808,1600818,1600802,1600810 3039 NG_000006,AE006462,AF230076,AF351127,AF363956,AF525460,AF536204,AY178732,AY178733,AY183122,AY196787,AY261678,AY298911,AY605050,CH471112,DQ011235,DQ431198,DQ499018,J00153,J00157,M22813,M22814,V00491,NM_000558,CR613306,CR613529,CR613936,CR614093,CR616078,CR616339,CR616441,CR616628,CR617808,CR618113,CR618304,CR618751,CR618898,CR619429,CR619550,CR619822,CR620969,CR622618,CR623359,CR623372,CR624135,CR624459,CR624742,CR624781,CR624782,CR625613,CR625739,CR626195,V00493,V00492,Z84721,AF097635,AF105974,AF147332,AF281258,AF349571,AK223392,BC005931,BC008572,BC032122,BC050661,BC101846,BC101848,CR590384,CR590419,CR590481,CR590719,CR591330,CR591912,CR592289,CR592332,CR592452,CR592662,CR593261,CR593790,CR594455,CR594768,CR594781,CR595290,CR595530,CR595536,CR597175,CR597255,CR597819,CR599410,CR600653,CR601289,CR601323,CR601946,CR602364,CR603054,CR603287,CR603647,CR604936,CR605579,CR605748,CR606053,CR606087,CR606337,CR606457,CR606669,CR607347,CR607972,CR608113,CR608818,CR610186,CR610372,CR611699,CR612274,CR612399,CR612540,CR612601 CAA23750,NP_000549,AAK61215,AAK61216,AAF72612,AAK15770,AAK50822,AAM83102,AAN04486,AAO22463,AAO22464,AAO24131,AAO42516,AAP44005,AAP56246,AAT36649,EAW85863,AAY30253,ABD95910,ABD95911,ABF56145,AAB59408,AAA52632,AAA52631,CAA23752,P69905,P78461,Q4ZGM8,Q6J1Z9,Q7Z6G4,Q7Z7B4,Q86YL2,Q86YQ1,Q86YQ4,Q86YQ5,Q96T46,Q9BX83,Q9NQT3,ABM85871,ABM87382,CAA23751,CAB06555,AAC72839,AAC97373,AAF90195,AAK37554,BAD97112,AAH05931,AAH08572,AAH32122,AAH50661,AAI01847,AAI01849 Hs.449630,Hs.654744 CD31|MGC126895|MGC126897 alpha one globin|alpha-1 globin|alpha-1-globin|alpha-globin|hemoglobin alpha 1 globin chain|hemoglobin alpha chain|hemoglobin alpha-1 chain|hemoglobin subunit alpha protein-coding 737064 HBA2 hemoglobin, alpha 2 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq] 1599361 16169070,19657833,19843387,19912309,19958194,19958200,20036801,20054848,478977,12072504,7518430,8706699,7555018,19479992,19245215,19205971,19048483,18768527,18591626,18026953,17996867,17920577,17916326,17715390,17589844,17587614,17512924,17486499,16847316,16798639,16436049,16418531,16103716,15813858,15768558,15658192,15550245,15481895,15481894,15481888,15481883,15449937,15365991,15128423,15008265,14649319,14649316,14204459,13999302,12779276,12779274,12779273,12779272,12730694,12673836,12665801,12659864,12603095,12603094,12603093,12484636,12484634,12477932,12360531,12192002,12144065,12144061,12122004,11939522,11939521,11836160,11791875,11791870,11570724,11307949,11186269,11186266,11186265,11186260,11154980,10930828,10910890,10870886,10722113,10569726,10569723,10081983,9895333,9886305,9665850,9629496,9441940,9255611,9175734,8980683,8943885,8756078,8635221,8294199,8195006,8195005,8193381,7928378,7615398,7558871,7407925,7402334,7070526,7010180,6994493,6985477,6726807,6671902,6646217,6644819,6547932,6505702,6490612,6469697,6452630,6317690,6308667,6297773,6244294,5794113,5639009,5587575,5577460,4944483,4550395,4422784,4212045,4135409,3620699,3597771,3384700,3191134,3177365,2752146,2649166,2606724,2384313,2372512,2265255,2101838,2101836,2079431,1988759,1975428,1726096,1634363,1581238,1549498,1517104,1512262,1487423,1268216,1155453,1115799,1062801,909779,822353,486536,13856,20580289,20682466,20642333,20691621,20639625,19740759 1599361 3040 NM_000517,NG_000006,DQ499017,J00153,M24793,V00488,V00489,V00516,Z84721,AF097635,AF105974,AF147332,AF281258,AK223392,BC005931,BC008572,BC032122,BC050661,BC101846,BC101848,CR590384,CR590419,CR590481,CR590719,CR591330,CR591912,CR592289,CR592332,CR592452,CR592662,CR593261,CR593790,CR594455,CR594768,CR594781,CR595290,CR595530,CR595536,CR597175,CR597255,CR597819,CR599410,CR600653,CR601289,CR601323,CR601946,CR602364,CR603054,CR603287,CR603647,CR604936,CR605579,CR605748,CR606053,CR606087,CR606337,CR606457,CR606669,CR607347,CR607972,CR608113,CR608818,CR610186,CR610372,CR611699,CR612274,CR612399,CR612540,CR612601,AF349571,CR613306,CR613529,CR613936,CR614093,CR616078,CR616339,CR616441,CR616628,CR617808,CR618113,CR618304,CR618751,CR618898,CR619429,CR619550,CR619822,CR620969,CR622618,CR623359,CR623372,CR624135,CR624459,CR624742,CR624781,CR624782,CR625613,CR625739,CR626195,V00493 NP_000508,ABF56144,AAB59407,AAA52630,CAA23748,CAA23749,CAA23774,CAB06554,AAC72839,AAC97373,AAK37554,BAD97112,AAH05931,AAH08572,AAH32122,AAH50661,AAI01847,AAI01849,AAF90195,CAA23752,P69905,ABM82687,ABM84035 Hs.449630,Hs.654744 alpha globin|alpha-2 globin|alpha-globin|hemoglobin alpha chain|hemoglobin subunit alpha|hemoglobin, alpha 1 protein-coding 1606036 HBAP1 hemoglobin, alpha pseudogene 1 7407925,7402334,6308667,6297773,6089189,4135409,2831226,2411938,1549498,822353 3041 NG_000006,J00153 pseudo 736606 HBB hemoglobin, beta The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq] 1600891,1600894,704404,1600888,1600886,1600889,1600890,1600893,1600895,1600892,1600896 18392554,17565724,8718696,1567857,20353347,18381244,18369441,18339318,18308336,18294253,18291005,18266765,18257074,18245381,18235968,18096416,18081706,18080800,18071703,18056715,18026953,18022136,17961316,17925082,17920577,17918249,17916326,17894837,17881306,17724704,17720709,17688704,17665502,17654503,17654072,17654071,17612748,18391696,1517102,1511986,1507231,1487420,1301199,1247583,1195378,1177322,1138922,1115799,1019344,992050,893142,891976,873928,826083,822353,728996,721609,668922,635569,429365,271989,88735,68958,67897,11163187,16169070,15910003,15565158,19740759,20830473,20943106,21034280,21068433,21086180,20642332,20353350,20353351,20353353,1512262,11747442,8292032,1540659,7965120,10588683,19556751,19533614,19479992,19474452,19397368,19373586,19373584,19359777,19346882,19333781,19320245,19317913,19288145,19254853,19247486,19245215,19230568,19215610,19205978,19205976,19205975,19205970,19149873,19127788,19066892,19122960,19087310,19065337,19055866,18951049,18932071,18772456,18759082,18752444,18728021,18694524,18667698,18654889,18654885,18603555,18586828,18498386,18473944,18473248,18473247,18473240,18461170,18458302,18443145,18428016,18419131,18414926,18392622,11778661,11741197,11582643,11570721,11499613,11486027,11480785,11300351,11300346,11300344,11186256,11132233,11132230,11111119,11076863,11043018,10954746,10930828,10856700,10791557,10666717,10398311,10233364,9843411,9830011,9761252,9521756,9006104,8980683,8811317,8745430,15956966,15948210,15921164,15885239,15882059,15870261,15858131,15839736,15795925,15795541,15793780,15780970,15767753,15741796,15727901,15727248,15713129,15692663,15658186,15615768,15609277,15607699,15599663,15591902,15565159,15555579,15538648,15528150,15489336,15489334,15482674,15481897,15481886,15481884,15476181,15385559,15327529,15315795,15307413,15256071,15198986,15153712,15147217,15108284,15084587,15073633,15060158,14738432,14722738,14649320,14649318,14649317,14649315,14649314,14645507,14642006,14627823,14587041,14585970,14555305,14529320,13897827,13872627,12955718,12941700,12920025,12908805,17564253,17519411,17516066,17508724,17490901,17486497,17486493,17445142,17394396,17339197,17301974,17196618,17160997,17158930,17140342,17135308,17133428,17096035,17095853,17056066,16990440,16956833,16943425,16916647,16898315,16885058,16877501,16859949,16858401,16855288,16848606,16798637,16722361,16637741,16537808,16508016,16480967,16470532,16466947,16418531,16381901,16356170,16254903,16227618,16199858,16184579,16175509,16156939,16156863,16132905,16103715,16085752,15979088,15973412,12865230,12846902,12799453,12736816,12709369,12709368,12629213,12603091,12581188,12581187,12555809,12477932,12454462,12419253,12394345,12360531,12242335,12217813,12217699,12144064,12144057,12122004,12082507,12054662,12034837,11999355,11997516,11971871,11965279,11939520,11939519,11939518,11939515,11939514,11939513,11939512,11939511,11939510,11939509,11939508,11920200,11909945,11890201,11877258,11869935,11860449,11857746,11843884,11843288,11833853,11827978,11823440,11822023,11812133,11804364,11804203,11800015,11782463,8718692,8642597,8641705,8602627,8522332,8330979,8330974,8330972,8144352,7907422,7693620,7555018,7378053,7373648,7358733,7338469,7338468,7238856,7173395,7162987,7161106,7151176,6985481,6985477,6985475,6895866,6857757,6726807,6714226,6701091,6687721,6652684,6644819,6629824,6629823,6629822,6618888,6587773,6526653,6457059,6434492,6330670,6327288,6324786,6303333,6297279,6292840,6272205,6270663,6264391,6254664,6210198,6194897,6292831,6280057,6194893,6184621,6166590,6165992,6155216,6095301,6086605,4852224,4850241,4639022,4531009,4129558,4123689,4053691,3937824,3879975,3879973,3857622,3838976,3754244,3744871,3718478,3707969,3691763,3666141,3654265,3623975,3620470,3557994,3455755,3384710,3384709,3384708,3384707,3382401,3267215,2933810,2921315,2649166,2634671,2599880,2581851,2578620,2578619,2513289,2399911,2384314,2101840,2079435,1917539,1917537,1917530,1814856,1787097,1634367,1602151,19913121,20552021,20557680,20598923,20628086,20628988,20676097,17637845,19269866,19290524,19372376,19465909,19488752,19503809,19609526,19615732,19618018,19657833,19775947,19843387,19903589,19954365,19958184,19958185,19958186,19958187,19958196,19958198,19958201,20036801,20068219,20080971,20099768,20113286,20113295,20113296,20181291,20193381,20230396,20231425,20305663,20336466,20353593,20395516,9441940,20406103,20798489,20938172 1600891,1600894,1600888,1600886,1600889,1600890,1600893,1600895,1600892,1600896 3043 NG_000007,A01592,AC104389,AF007546,AF059180,AF083883,AF104901,AF105973,AF186606,AF186607,AF186608,AF186609,AF186610,AF186611,AF186612,AF186613,AF186614,AF186615,AF186616,AF186617,AF186618,AF186619,AF186620,AF305829,AF319479,AF348448,AF527577,AF540397,AJ871593,AJ877913,AY013299,AY013301,AY013302,AY027509,NM_000518,AY136511,AY163866,AY260740,AY261679,AY264346,AY310318,AY341055,AY341056,AY356351,AY605051,AY605052,AY738615,AY744274,AY998983,CH471064,DQ026227,DQ029041,DQ074764,DQ118155,DQ126270,DQ126271,DQ126272,DQ126273,DQ126274,DQ126275,DQ126276,DQ126277,DQ126278,DQ126279,DQ126280,DQ126281,DQ126282,DQ126283,DQ126284,DQ126285,DQ126286,DQ126287,DQ126288,DQ126289,DQ126290,DQ126291,DQ126292,DQ126293,DQ126294,DQ126295,DQ126296,DQ126297,DQ126298,DQ126299,AY027800,DQ659148,EF450778,EU760912,EU760913,EU760915,EU760916,EU760918,EU760919,EU760920,EU760922,EU760923,EU760924,EU760925,EU760926,EU760928,EU760929,EU760930,EU760931,EU760932,EU760933,EU760935,EU760936,EU760940,EU760941,EU760942,EU760943,EU760944,EU760945,EU760946,EU760947,EU760948,EU760949,EU760952,EU760954,EU760955,EU760957,DQ192018,EU760960,K01899,L26462,L26463,L26464,L26465,L26466,EU760958,L26467,L26468,L26469,L26470,L26471,L26472,L26473,L26474,L26475,L26476,L26477,L26478,L48213,L48214,L48215,L48216,L48217,L48220,L48931,L48932,M25660,M34059,M36640,S82767,U01317,U20223,V00498,V00499,AF117710,AF181832,AF181989,AF349114,AK311825,AY136510,AY509193,BC007075,DQ126300,DQ126301,DQ126302,DQ126303,DQ126304,DQ126305,DQ126306,DQ126307,DQ126308,DQ126309,DQ126310,DQ126311,DQ126312,DQ126313,DQ126314,DQ126315,DQ126316,DQ126317,DQ126318,DQ126319,DQ126320,DQ126321,DQ126322,DQ126323,DQ126324,DQ126325,DQ150585,CR536530,CR541913,CR590940,CR594264,CR603426,CR609101,CR621681,EU694432,M11428,M25079,M25113,V00497,V00500 AAK20080,AAH07075,NP_000509,CAA00182,AAB62944,AAD30656,AAL68978,AAC97372,AAC97959,AAF08258,AAF08259,AAF08260,AAF08261,AAF08262,AAF08263,AAF08264,AAF08265,AAF08266,AAF08267,AAF08268,AAF08269,AAF08270,AAF08271,AAF08272,AAG28779,AAK28066,AAK30154,AAM92001,AAN16468,CAI40296,CAI47563,AAG46182,AAG46184,AAG46185,AAK15811,AAN11321,AAN84548,AAP21062,AAP44006,AAP03091,AAP74754,AAQ24847,AAQ24848,AAQ63175,AAT36650,AAT36651,AAU85261,AAW66689,AAY15222,EAW68806,AAY51976,AAY46275,AAY84735,AAZ30391,AAZ39745,AAZ39746,AAZ39747,AAZ39748,AAZ39749,AAZ39750,AAZ39751,AAZ39752,AAZ39753,AAZ39754,AAZ39755,AAZ39756,AAZ39757,AAZ39758,AAZ39759,AAZ39760,AAZ39761,AAZ39762,AAZ39763,AAZ39764,AAZ39765,AAZ39766,AAZ39767,AAZ39768,AAZ39769,AAZ39770,AAZ39771,AAZ39772,AAZ39773,AAZ39774,ABA19233,ABG47031,ABO36678,ACF16747,ACF16748,ACF16750,ACF16751,ACF16753,ACF16754,ACF16755,ACF16757,ACF16758,ACF16759,ACF16760,ACF16761,ACF16763,ACF16764,ACF16765,ACF16766,ACF16767,ACF16768,ACF16770,ACF16771,ACF16775,ACF16776,ACF16777,ACF16778,ACF16779,ACF16780,ACF16781,ACF16782,ACF16783,ACF16784,ACF16787,ACF16789,ACF16790,ACF16792,ACF16793,ACF16795,AAA52635,AAA21100,AAA21101,AAA21102,AAA21103,AAA21104,AAA21105,AAA21106,AAA21107,AAA21108,AAA21109,AAA21110,AAA21111,AAA21112,AAA21113,AAA21114,AAA21115,AAA21116,AAA88063,AAA88061,AAA88059,AAA88065,AAA88067,AAA88057,AAA99224,AAA88054,AAA53153,AAA35952,AAA52634,AAD14420,AAA16334,AAA16335,AAB60348,CAA23757,CAA23758,AAD19696,AAF00488,AAF00489,AAK29639,BAG34767,AAN11320,AAR96398,AAZ39776,AAZ39777,AAZ39778,AAZ39779,AAZ39780,AAZ39781,AAZ39782,AAZ39783,AAZ39784,AAZ39785,AAZ39786,AAZ39787,AAZ39788,AAZ39789,AAZ39790,AAZ39791,AAZ39792,AAZ39793,AAZ39794,AAZ39795,AAZ39796,AAZ39797,AAZ39798,AAZ39799,AAZ39800,AAZ81986,AAZ39775,Q14484,Q3L3Q5,Q3LR79,Q3Y9I8,Q4JLR8,Q4TWB7,Q4TZM4,Q52MT0,Q5GMQ1,Q5XTR9,Q6J1Z7,Q6J1Z8,Q6V0K9,Q6VFQ5,Q6VFQ6,Q7Z2K5,Q7Z7B3,Q86VF0,Q8IUL9,Q8IZI0,Q9BWU5,Q9BWV6,Q9BXA2,Q9GZL9,Q9H1I6,Q9HAR8,Q9UBV6,Q9UE59,Q9UK54,Q9UM85,Q9UP81,CAL37415,CAL38229,ABM84085,ABM87452,ABW03575,CAG38767,CAG46711,ACD39349,AAA52633,AAA35597,AAA35966,CAA23756,CAA23759,O95408,O95412,P68871,Q0Z944,Q14473,Q14477 Hs.523443 CD113t-C|beta-globin beta globin chain|hemoglobin beta chain|hemoglobin beta chain complex|hemoglobin subunit beta 2314986 INSUL33_H protein-coding 1345937 HBBP1 hemoglobin, beta pseudogene 1 19924444,20183929,15108284,6098690,2649166 3044 NR_001589,AC104389,X02133,N55205,NG_000007 Hs.20205 pseudo 1353990 HBD hemoglobin, delta The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq] 1580863 1787103,7555018,18932068,18615450,18603555,18221842,17145605,16370491,16370490,15921167,15757827,15489334,15449937,15234005,15108284,14478740,14236725,13968954,13892631,12736816,12477932,12402333,11939506,11860449,9101295,8537235,8401543,8364213,8330984,8118467,7713748,7438204,7162987,7151176,7129931,6985481,6985477,6985475,6895866,6714226,6701091,6652684,6629826,6629825,6548205,6469695,6457059,6397774,6330670,6327288,6324786,6311816,6303333,6297279,6292840,6292831,6280057,6272205,6270663,6264391,6210198,6194897,6194893,6184621,6165992,6155216,6095301,6086605,5956309,5909792,5824070,5678016,4995018,4852213,4850239,4625560,3879975,3879973,3857622,3841531,3620470,3455755,3401592,3382401,3267215,2933810,2869009,2649166,2581851,2578620,2578619,2477064,2066116,2018846,1802885,1802883,17207965,1742490,1515647,1398286,1309671,1301204,1257702,1148221,952968,873928,822353,728996,680638,88735,19609526,19657833,19924444 3045 NM_000519,NG_000007,AC104389,AF339401,AF339402,AF339403,AF339404,AF339405,AF339406,AF339407,AF339408,AF339409,AF339410,AF339411,AF339412,AF339413,AF339414,AF339415,AF339416,AF339417,AY695366,CH471064,DQ106871,DQ157442,EF051730,EF051731,EF058046,U01317,V00505,V00506,AY034468,BC069307,BC070282,BU664913 NP_000510,AAL72102,AAL72103,AAL72104,AAL72105,AAL72106,AAL72107,AAL72108,AAL72109,AAL72110,AAL72111,AAL72112,AAL72113,AAL72114,AAL72115,AAL72116,AAL72117,AAL72118,AAU08171,EAW68805,AAZ16491,AAZ83699,ABK79071,ABK79072,ABK42072,AAA16333,CAA23763,CAA23764,AAK68847,AAH69307,AAH70282,P02042,Q4F786,Q670S4,Q9UE58,ADQ32913 Hs.699280 delta globin|delta-globin chain|hemoglobin delta chain|hemoglobin subunit delta protein-coding 1312957 HBE1 hemoglobin, epsilon 1 The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq] 1580863 18940720,19924444,15114532,6172865,7555018,19323016,18787944,18654872,17548470,17003365,16620781,16514181,16432873,15489334,15449937,15157738,15108284,12659864,12477932,11494285,11304851,11132230,10381533,9665850,9220539,7162987,7151176,6985481,6985477,6985475,6930885,6895866,6714226,6701091,6652684,6457059,6330670,6327288,6324786,6303333,6297279,6292840,6292831,6280057,6272205,6270663,6264391,6254663,6210198,6194897,6194893,6184621,20734064,6165992,6155216,6095301,6086605,3879975,3879973,3857622,3455755,3382401,3267215,2933810,2921315,2649166,2581851,2578620,2578619,873928,822353,160554,88735 3046 NM_005330,NG_000007,AC104389,CH471064,M25037,U01317,V00508,BC015537,CR541912 NP_005321,EAW68802,AAA35954,AAA16330,CAA23766,AAH15537,CAG46710,P02100,Q14475,ABM85544,ABW03731 Hs.655195 HBE OTTHUMP00000069642|epsilon globin|epsilon-globin|hemoglobin epsilon chain|hemoglobin subunit epsilon protein-coding 1605733 HBEGF heparin-binding EGF-like growth factor 2317963,1581908 19913121,20586269,20628086,20130271,18852147,18725202,18691754,18686008,18463770,18093224,17962208,17960400,17928891,17855771,17717322,17668298,17654528,17637826,17548351,17525275,17472728,17392284,17001310,16996055,16923819,18925469,16901467,10749879,8300582,8347598,1840698,15289334,15389565,19127210,19064678,18929421,16687414,16557002,16470170,16407398,16034135,15988409,15979989,15827558,15755902,15562026,15509542,15489334,15372022,15331606,15274392,15219838,15169883,15062539,14764442,14738873,14634113,14597771,14573593,12958167,12952982,12882762,12835543,12768307,12725245,12612909,12568494,12477932,12466384,12230876,12163414,12149405,12112577,12099696,12095415,11983897,11943653,11922634,11920609,20946474,20351696,7532176,3436221,1939101,1577791,1556128,11825873,11769972,11761337,11735113,11432822,11340068,11125426,10576204,9659904,9373149,9135143,8125298,8060360,8051092,7836353,7590736,16837648,11846885,12743035,17655843,19218109,19389413,19559571,19609315,19671876,19682489,19919524,19996587,20131286,20424473,8194524,19961362,20332144,20739660,20889674 2317963,1581908 1839 NM_001945,AC004634,AY164533,CH471062,L17030,L17031,AK222688,AK307310,AK313202,BC033097,D55114,M60278,GM880654 NP_001936,AAC15470,AAN46738,EAW62069,AAA50563,AAA50564,BAD96408,BAG36018,AAH33097,AAA35956,Q14487,Q53H93,Q99075,Q9UMJ6,ACE87738,ACE87056,CAV28318 Hs.799,Hs.592942 DTR|DTS|DTSF|HEGFL OTTHUMP00000223860|diphtheria toxin receptor (heparin-binding EGF-like growth factor)|diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)|heparin-binding epidermal growth factor|proheparin-binding EGF-like growth factor protein-coding 1345458 HBG1 hemoglobin, gamma A The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq] 1600575 19327156,19712585,19924444,19958188,19958189,16631597,2419280,17353931,19220418,18718799,18615450,18347053,18096417,17976188,17916326,17612629,17212360,16849648,15831451,15666429,15613485,15489334,15108284,14649320,14645237,12488461,12477932,12393583,12393499,12093744,11960008,11514664,11172039,9703422,8566966,8194849,7928382,7555018,7438203,7332928,7162987,7151176,6985481,6985477,6985475,6895866,6714226,6701091,6652684,6457059,6330670,6327288,6324786,6303333,6297279,6292840,6292831,6280057,6272205,6270663,6264391,6210198,6199326,6198905,6197997,6194897,6194893,6188719,6186637,6184621,6183236,6175602,6165992,6163752,6155216,6095301,6091051,6086605,6038320,6019034,5554303,5491586,4765089,4676910,4455303,3879975,3879973,3857622,3455755,3382401,3377986,3267215,3181130,2933810,2649166,2581920,2581851,2578620,2578619,2469505,2467893,2454900,2452784,2448269,2448268,2442092,2441598,2423160,2420697,20439494,2417989,2417646,2413469,2412617,2411679,2224140,1802881,1714434,1704803,1703137,1698280,1487421,1379347,1374633,1342932,1283810,1138921,881729,873928,822353,808940,318163,291015,88735,20676097 1600575 3047 NM_000559,NG_000007,AC104389,AF487523,AY534688,CH471064,J00176,M32249,M32724,M91036,M91037,U01317,V00513,V00514,BC010913,BC010914,BC020719,CR593382,CR594720,CR596479,CR604256,CR608640,CR608786,CR609411,CR614139,CR619706,CR619879,CR619938,CR620360,CR621032,CR622267,CR625875,CR626236,CR626417,CR626466,V00512,X55655 NP_000550,AAL99545,AAS48085,EAW68804,AAA52637,AAA58609,AAA35953,AAB59429,AAA58493,AAA16332,CAA23771,CAA23772,AAH10913,AAH10914,AAH20719,P69891,ABM83591,ABM83727,ABM87047,CAA39188,CAA23770 Hs.712539 HBGA|HBGR|HSGGL1|PRO2979 A-gamma globin|gamma A hemoglobin|gamma globin|gamma-1-globin|hb F Agamma|hemoglobin gamma-1 chain|hemoglobin gamma-a chain|hemoglobin subunit gamma-1|hemoglobin, gamma, regulator of protein-coding 1351638 HBG2 hemoglobin, gamma G The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq] 1600594,1600598 2581919,18951049,18932071,18667698,18467329,18443038,18266208,18096417,17916326,17365007,16956833,16370494,15798211,15645283,15489334,15476181,15231748,15108284,14649320,14087393,12543931,12488461,12477932,11827978,11791877,11514664,11172039,11132233,10722116,10722115,10722114,10335983,8718701,8718700,8566966,8144355,7741137,7713741,7687855,7687241,7558873,7438203,7332928,7250702,7162987,7151176,6985481,6985477,6985475,6895866,6814491,6714226,6701091,6652684,6457059,6330670,6327288,6324786,6303333,6297279,6292840,6292831,6280057,6272205,6270663,6264391,6210198,6208955,6206897,6194897,6194893,6192110,6186636,6186635,6186522,6184621,6172403,6165992,6158500,6155216,6095301,6091051,6086605,5792729,5554303,4846278,4837284,4429671,4403130,3879975,3879973,3857622,3455755,3382401,3267215,3120456,2933810,2649166,19050890,2581851,2579547,2578620,2578619,2483933,2470017,2459083,2459082,2442123,2442122,2441598,2435680,2420748,2416635,2413469,1726095,1714434,1706691,1703139,1703138,1698280,1127124,881729,873928,836882,822353,88735,20439494,20688955,19861239,19892574,19924444,19958193,20113294,20472475 1600594,1600598 3048 CR615907,M11427,M15386,X55656,X55657,NM_000184,NG_000007,AC104389,AY662983,M32250,M32723,M91036,M91037,U01317,V00515,X06490,AF110493,AK290492,BC029387,BC130457,BC130459,CR593022,CR593357,CR593470,CR593826,CR594576,CR595029,CR595535,CR599317,CR602719,CR602897,CR603041,CR604223,CR607395,CR609361,CR610392,CR613701,CR613883,FJ948815 AAA35957,AAB50159,CAA39189,CAA39190,P69892,Q14402,Q14403,Q14412,Q14476,Q9UJ01,Q9UNL6,ABM86835,NP_000175,AAT98611,AAA58610,AAA35955,AAB59428,AAA58492,AAA16331,CAA23773,CAB58151,AAD19655,BAF83181,AAH29387,AAI30458,AAI30460,ADB93137 Hs.302145 FLJ76540 G-gamma globin Paulinia|OTTHUMP00000069638|abnormal hemoglobin|gamma-2-globin|hb F Ggamma|hemoglobin gamma-2 chain|hemoglobin gamma-G chain|hemoglobin subunit gamma-2|methemoglobin protein-coding 1348198 HBM hemoglobin, mu The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq] 19199228,15855277,12477932,3952001,2825132,2649166 3042 NM_001003938,NG_000006,DQ431198,X03583,AY698022,BC035682,BC067870,CR597411 NP_001003938,ABD95909,AAT92513,AAH35682,Q6B0K9 Hs.647389 HBAP2 alpha globin pseudogene 2|hemoglobin mu chain|hemoglobin subunit mu|hemoglobin, alpha pseudogene 2|mu-globin protein-coding 733921 HBP1 HMG-box transcription factor 1 10958660,10562551,9178770,9030690,17616670,17092945,16966377,16713569,16495219,16210625,16179914,15489334,15235594,15231748,15024088,14872137,14702039,12853948,12477932,11500377,11486012,20383199,20581871,20008325 26959 NM_012257,AC004492,CH236947,CH471070,AF019214,AF182038,AK025284,AK074353,AK122785,AK295910,AK298504,BC017069,BC022329,CR590649,CR594009,CR617831 NP_036389,AAC08317,EAW83392,EAW83393,EAW83394,AAB71862,AAD56225,BAB85059,BAG53729,BAG58698,BAG60711,AAH17069,AAH22329,O14790,O60381,ABM82502 Hs.162032 FLJ16340 HMG box transcription factor 1|HMG box-containing protein 1|HMG-box containing protein 1|OTTHUMP00000212319|OTTHUMP00000212325|high mobility group box transcription factor 1|hmg-box containing protein 1 protein-coding 1313995 HBQ1 hemoglobin, theta 1 Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq] 1580863 7555018,16728641,15489334,12477932,11157797,3422341,3408475,2921315,2649166,2569721,16138310 3049 M33022,M91453,X06482,BC056686,NM_005331,NG_000006,AE006462,CH471112,DQ431198 ABD95912,AAA52640,AAA58362,CAA29776,AAH56686,P09105,NP_005322,AAK61217,EAW85861 Hs.247921 hemoglobin subunit theta-1|hemoglobin theta-1 chain|theta-1-globin protein-coding 1318318 HBS1L HBS1-like (S. cerevisiae) This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq] 1580863 9872408,19148297,18839276,18667698,17712044,17592125,16344560,15489334,14702039,14574404,12477932,10470851,20472475,21068433,19696200,19820697,19862010,19924444,20183929,20927387,19853236,20139978 10767 AK293573,AK295545,AK298336,AL137664,BC001465,BC040849,BX648033,CR607684,DB051030,U87791,NM_006620,NM_001145207,NG_012002,AL353596,AL445190,CH471051,AB028961,AF161394,AJ420551,AJ459826,AJ459827,AK024258,NM_001145158,GU324927 BAG51281,BAH11538,BAH12101,BAH12760,CAB70865,AAH01465,AAH40849,AAD00645,Q5T7G1,Q9NSX9,Q9P0A5,Q9Y450,ACE87422,ACE86736,NP_001138630,NP_006611,NP_001138679,CAI17912,CAI17914,CAI17915,CAI95160,CAI95161,EAW47980,EAW47981,EAW47982,EAW47983,EAW47984,BAA82990,AAF28954,CAD30873,CAD30874,ADL14498 Hs.378532 DKFZp686L13262|EF-1a|ERFS|HBS1|HSPC276 ERF3-similar protein|HBS1-like protein|Hsp70 subfamily B suppressor 1-like protein|OTTHUMP00000017253|OTTHUMP00000017254 protein-coding 1312775 HBXIP hepatitis B virus x interacting protein This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq] 1580863 20811532,12773388,9499022,18158869,18032378,17428866,17303008,17050029,16176273,16169070,16055925,15955450,15489334,14702039,12477932,11925594,11788598,14578865,18029348,19885569,20877624 10542 NM_006402,AL390797,CH471122,AA443738,AF029890,AK054769,AK056679,AY623819,BC062619,BX092018,CR456866,CR542130,CR602221 NP_006393,CAH71488,EAW56447,AAC52032,BAG51783,AAV30683,AAH62619,CAG33147,CAG46927,O43504,ADR82678 Hs.439815 MGC71071|XIP HBV X-interacting protein|HBx-interacting protein|hepatitis B virus X-interacting protein|hepatitis B virus x-interacting protein (9.6kD) protein-coding 1316709 HBZ hemoglobin, zeta Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult like. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq] 1580863 7555018,15755797,15555579,15489334,12477932,11747442,11494285,11157797,10381533,9054936,7402334,6963223,6308667,6297773,6179844,6172357,6171809,6089189,4135409,2649166,2411938,1549498,822353,16169070,20098747 3050 NM_005332,NG_000006,AE006462,CH471112,DQ431198,J00182,Z84721,BC027892,CR456848,M24173 NP_005323,AAK61214,EAW85864,ABD95908,AAB59406,CAB06552,AAH27892,CAG33129,AAA61306,P02008,Q1W6G9,ABM85006,ABW03672 Hs.585357 HBAZ|hemoglobin subunit zeta|hemoglobin zeta chain|zeta-globin protein-coding 1353128 HBZP hemoglobin, zeta pseudogene 6745241,6308667,6297773,2825132,2649166 3051 J00184 HBZP pseudo 1602095 HCCA2 HCCA2 protein 15489334,15067004,14702039,12477932,11223154,11181995,20624913,20379614,20889853 81532 NM_053005,AC091196,CH471158,AB028173,AB066564,AJ580639,AK057350,AK296658,BC035317,BC047291,BC058934,BC067785,BX537373,CR591411,CR592866,CR607171,CR623644,AW874617,DC413532,NM_001172223,AK300235 NP_443731,BAB18568,BAB62266,CAE45271,BAB71443,BAG59255,AAH47291,AAH67785,CAD97615,Q70IA6,NP_001165694,BAG62003 Hs.370360 HCCA2|MOB2 HCCA2 protein|mob2 homolog|mps one binder kinase activator-like 2 protein-coding 1352684 HCCS holocytochrome c synthase (cytochrome c heme-lyase) 1600417,1580863 8661044,11827457,17893649,17033964,16263763,15489334,14702039,12477932,12444108,9674913,8364577,16344560,18029348,19734545,17207965 1600417 3052 AF053015,NM_005333,NM_001122608,AC003657,CH471074,AK097815,AU310864,BC001691,BC095455,CR594352,CR615500,CR749578,U36787,AI027533,DB253108,NG_016460,NM_001171991 NP_005324,NP_001116080,AAC35274,EAW98783,EAW98784,EAW98785,BAG53533,AAH01691,AAH95455,CAH18370,AAB19007,P53701,Q68D50,ACE87589,ACE86902,NP_001165462,ADQ31712 Hs.211571 CCHL|DKFZp779I1858|MCOPS7 cytochrome c heme-lyase|cytochrome c-type heme lyase|holocytochrome c-type synthase protein-coding 1345622 HCFC1 host cell factor C1 (VP16-accessory protein) This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1580863 1448082,15960975,17643375,18585351,19188440,19615732,19763085,19815555,20018852,20126307,20133788,20200153,9271389,20805357,12670868,10675337,8392914,10623756,19377461,7876203,19292868,19131338,18520591,18343819,17612494,17578910,17567994,17081983,16964243,16633736,16624878,16042417,15966902,15931389,15705566,15522876,15489334,15200950,15190068,14532282,12743030,12477932,12271126,12244100,12235138,11340173,10976766,10958670,10871379,10779346,10637318,10629049,9889203,9315674,8661027,7829097,7590226,9658067,9389645,11733490,8454622,12149646,15199122,10821850,7597030,9822615,14983011,19913121,20628086,18838386,18838538,18029348,20211142,17998332 3054 AAB27583 NM_005334,NG_012513,CH471172,X79198,BC010606,BC019887,BC030560,BC063435,DQ655939,L20010 ACX32326,NP_005325,EAW72767,EAW72768,EAW72769,CAA55790,AAH19887,AAH30560,AAH63435,AAB27583,P51610,Q05C05 Hs.83634 CFF|HCF-1|HCF1|HFC1|MGC70925|VCAF C1 factor|HCF|VP16 accessory protein|host cell factor 1 protein-coding 1351730 HCFC1R1 host cell factor C1 regulator 1 (XPO1 dependent) 16169070,16341674,12477932,12235138,17207965,19913121,20628086 54985 NM_001002017,NM_017885,NM_001002018,AC108134,CH471112,AK000575,AK293768,AY116892,BC064026,BC065514,BC080178,BM790570,BM925785,CR457245,CR594889,CR612406,FB775554,FB775556,FB775558 NP_001002017,NP_060355,NP_001002018,EAW85424,EAW85425,EAW85426,EAW85427,BAA91265,BAG57184,AAM49798,AAH64026,AAH80178,CAG33526,Q9NWW0,ADQ32014,CAV30734,CAV30735,CAV30736 Hs.728247 FLJ20568|HPIP|MGC70711|MGC99622 HCF-1 beta-propeller interacting protein|HCF-1 beta-propeller-interacting protein|host cell factor C1 regulator 1|host cell factor C1 regulator 1 (XPO1 dependant)|host cell factor c1 regulator 1 (xpo1 dependant) protein-coding 1316555 HCFC2 host cell factor C2 This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq] 737633,1580863 10196288,18029348,16344560,15489334,15199122,12477932,9373149,8125298 737633 29915 NM_013320,AC078819,AC084359,AC089983,CH471054,AF117210,AI247087,AK223342,AK296523,AK313466,BC006558,BC033799,DB030069 NP_037452,EAW97736,EAW97737,AAD27814,BAD97062,BAG59154,BAG36252,AAH06558,AAH33799,Q53FE7,Q9Y5Z7,ABZ92020 Hs.506558 FLJ94012|HCF-2|HCF2 C2 factor|host cell factor 2 protein-coding 1354379 HCG10P HLA complex group 10 pseudogene 493819 1344561 HCG11 HLA complex group 11 14702039 493812 AK024111,NR_026790,AL121936 Hs.272939 FLJ14049|FLJ30357|bK14H9.3 miscrna 1347135 HCG12 HLA complex group 12 12477932 493826 NR_002831,AL590705,BC058829,BC070371 Hs.648180 bA457M11.2 miscrna 1344045 HCG13P HLA complex group 13 pseudogene 493813 1354076 HCG14 HLA complex group 14 414760 AI859157,AL662871,AW270927 Hs.211005 dJ111M5.4 HLA complex group 14 protein-coding 1344551 HCG15 HLA complex group 15 414761 1347152 HCG16 HLA complex group 16 414766 1352352 HCG17 HLA complex group 17 (non-protein coding) 414778 AB023055,AL662782,AI194060 Hs.485041 NCRNA00046 miscrna 1342994 HCG18 HLA complex group 18 14702039 414777 NR_024053,NR_024052,AL662795,AL662832,AL773535,AL844220,AL845452,BX248419,BX248580,BX927189,BX927214,CR759281,CR759928,CT009538,AK023334,AK055657,AK056160,AK098416,BC035165,BC040058,CR599963,CR606587,CR624833 Hs.485041 FLJ25550|FLJ31095|FLJ31598 miscrna 1345560 HCG19P HLA complex group 19 pseudogene 414776 1346831 HCG20 HLA complex group 20 414774 1350067 HCG21 HLA complex group 21 414775 1353415 HCG22 HLA complex group 22 14702039,20981447,21051598,19851445 285834 NR_003948,AL663093,AL669830,AL805909,AK094433,AB560771,CR759964,CT009481,BX247900,BX927139,CR753812,CR759772 BAJ24155 Hs.207528 FLJ37114|PBMUCL2 pseudo 1348807 HCG23 HLA complex group 23 414764 1351536 HCG24 HLA complex group 24 414768 1348434 HCG25 HLA complex group 25 414765 1350954 HCG26 HLA complex group 26 (non-protein coding) 16702430,10557312,7806210 352961 NR_002812,AB088105,AL645933,AL662866,BX001040,BX005439,CR753820,CR753864,L29376 Hs.132807 3.8-1|NCRNA00191|bCX205D4.4|bPG181B23.4 miscrna 1353303 HCG27 HLA complex group 27 737633 14702039,12477932,20585627,16344560,19851445 737633 253018 NR_026791,AL662833,AL662844,AL845458,BX088580,BX322539,CH471081,CR388229,CR759815,AK097442,BC041465,BC104432,BC104433,DB027671 EAX03370,EAX03371,EAX03372,Q5U5P9 Hs.659818 FLJ40123|MGC129794|MGC129795|bCX101P6.9|bPG299F13.9|bQB115I13.2 miscrna 1351896 HCG2P1 HLA complex group 2 pseudogene 1 387484 1343348 HCG2P2 HLA complex group 2 pseudogene 2 387502 1348287 HCG2P4 HLA complex group 2 pseudogene 4 387501 1351882 HCG2P6 HLA complex group 2 pseudogene 6 10557312,20593013 353006 AL645935,AL845454,BX005091,CR382333,CR388220,CR759762,CR759913,AB023056,NG_016118,AL671277,BA000025 HCGII-6|HCGII.1 pseudo 1344810 HCG2P7 HLA complex group 2 pseudogene 7 16702430,10557312 80867 NR_001318,AB023057,AB201551,AL645929,AL645935,AL845454,BX284699,BX927141,CR388220,CR759913,CT009496,CT009517,X81001 Hs.720720 HCGII-7|HCGII.2 pseudo 1346547 HCG2P8 HLA complex group 2 pseudogene 8 10557312 353012 NG_002737,AL671561,AL844851,BA000025,AL645939,BX005428,BX927141,CR759769,CR788234,CR925767 HCGII-8|HCGII.3 pseudo 1348159 HCG4 HLA complex group 4 19569244,17971048,12477932 54435 NR_002139,AL645939,AL671561,AL844851,BX005428,BX927182,CR759769,CR788234,CR925767,AF036977,BC011879,BC021249 AAD02090 Hs.660431 HCGIV.9 pseudo 1351991 HCG4P1 HLA complex group 4 pseudogene 1 387503 1350129 HCG4P10 HLA complex group 4 pseudogene 10 10557312 353017 BX005428,BX927182,CR759769,CR788234,CR925767,NG_002741,AL645939,AL671561,AL844851,BA000025 HCGIV-10|HCGIV.9 pseudo 1348171 HCG4P11 HLA complex group 4 pseudogene 11 10557312 353020 BX005428,BX927250,CR753818,CR759790,NG_002744,AL645939,AL669813,AL844851,BA000025 HCGIV-11|HCGIV.10 pseudo 1348369 HCG4P2 HLA complex group 4 pseudogene 2 387504 1344229 HCG4P3 HLA complex group 4 pseudogene 3 10557312 353001 AL671277,BA000025,AB023056,NG_016112,AL645935,AL845454,BX005091,BX927229,CR388205,CR759763,CR759943,CR759960 HCGIV-03|HCGIV-3|HCGIV.2 pseudo 1343995 HCG4P4 HLA complex group 4 pseudogene 4 10557312 353002 AL671277,BA000025,AB023056,NG_016113 HCGIV-04|HCGIV-4|HCGIV.3 pseudo 1353380 HCG4P5 HLA complex group 4 pseudogene 5 10557312 353003 AL671277,AB023056,BA000025,NG_016115,AL645935,CR759913 HCGIV-05|HCGIV-5|HCGIV.4 pseudo 1349547 HCG4P6 HLA complex group 4 pseudogene 6 14702039,10557312 80868 NR_001317,AB023056,AL645935,AL671277,AL845454,BX005091,CR382333,CR388220,CR759913,AK056727,X81005 BAB71265,Q96MM2 Hs.181244,Hs.661198 HCGIV-06|HCGIV-6|HCGIV.5|bCX67J3.3|bPG309N1.1|bQB90C11.3 pseudo 1346603 HCG4P7 HLA complex group 4 pseudogene 7 10557312 353004 AB023057,AL671561,BA000025,NG_016116,AL845454,CR388220,CT009496,CT009517,AL645929 HCGIV-07|HCGIV-7|HCGIV.C pseudo 1352669 HCG4P8 HLA complex group 4 pseudogene 8 10557312,20593013 353005 AL645929,AL645939,AL022723,AL671561,BA000025,NG_016117,BX001005,BX247949,BX927141,CR759769,CR788234 HCGIV-08|HCGIV-8|HCGIV.7 pseudo 1604944 HCG4P9 HLA complex group 4 pseudogene 9 10557312 353014 AL671561,AL844851,BX005428,BX927141,CR759769,CR788234,CR925767,NG_002739,AL645939,BA000025 HCGIV-09|HCGIV-9 pseudo 1347465 HCG8 HLA complex group 8 10557312,8575815,10557312,12477932,12975309,16702430,8575815 80869,80869 X92110,AB088086,AL845454,AY358246,BC036766,CR933629,X92110,XR_041146 AAQ88613,Q6UXQ7 Hs.653168 HCGVIII|HCGVIII-1 miscrna 1345986 HCG9 HLA complex group 9 This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq] 20593013,16702430,16344560,10727083,10557312,8753856,8575815,19851445,20410501 10255 NR_028032,AB023056,AB088085,AB103591,AB202080,AF055066,AL645935,AL671277,AL845454,BA000025,BX005091,BX927229,CH471081,CR388205,CR759762,X92109,AK289926,DA293452,X95289 BAC54918,BAF31255,BAE78599,AAC24824,BAB63335,EAX03247,CAA63081,BAF82615,CAA64611,Q93065,Q96QB4,AAI48574,AAI56750 Hs.656251 HCGIX|HCGIX4 miscrna 1351443 HCG9P1 HLA complex group 9 pseudogene 1 387505 1351523 HCG9P2 HLA complex group 9 pseudogene 2 387506 1345524 HCG9P3 HLA complex group 9 pseudogene 3 387507 1352356 HCG9P5 HLA complex group 9 pseudogene 5 10557312 353019 NG_002743,AL645939,AL669813,BA000025,AL844851,BX005428,BX927182,CR753818,CR788234 HCGIX-5|dJ377H14.6 pseudo 1347510 HCHOLA4 hypercholesterolemia, autosomal dominant 4 246132 732471 HCK hemopoietic cell kinase The protein encoded by this gene is a protein-tyrosine kinase that is predominantly expressed in hemopoietic cell types. The encoded protein may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Alternate translation initiation site usage, including a non-AUG (CUG) codon, results in the production of two different isoforms, that have different subcellular localization. [provided by RefSeq] 1580863 9407116,16849330,12734410,7859737,12029088,3453117,3496523,18794796,17893228,17668209,17535448,17141806,17081983,17024369,16271895,16210316,15952790,15626739,15489334,15263807,15144186,15010462,14969582,14702039,14551213,14551197,12900520,12769846,12748290,12734187,12626508,12600646,12592324,12576423,12538589,12522270,12496276,12477932,12244095,12235133,12181444,11994282,11976726,11940572,11904303,11780052,11741929,11689697,11500821,11350938,11294897,11278465,11239464,11097855,11071635,10973280,10967098,10934191,10918587,10858437,10849448,10799548,10749872,10586033,10527858,10318861,10092522,10068673,9890970,9837776,9790917,9778343,9742969,9571048,11328823,12138090,11896602,14993658,20670214,20936779,9400828,9373149,9268059,9218412,9195918,9178913,9109402,9024658,9020138,8955135,8885868,8657103,8626374,8125298,8064233,8058772,7791757,7782336,7682059,1875927,1720539,1689310,1572549,1373873,15595833,15491611,10388555,12033791,10364375,9656992,11533201,12076760,11448168,16454711,10574946,10642173,9024665,10547288,8599760,15638726,15078178,11463741,10544125,9705913,7588629,20798061,10428862,15784897,16169070,16344560,16374509,19211505,19585521,19807924,20056178,20488787,20181660 3055 AK314335,BC014435,BC094847,BC108930,BC108931,BC113854,BC114463,CR594271,M16592,AL049539,AL353092,CH471077,M73233,X58741,AK026432,AK225819,AK289896,AK290928,AK298726,NM_002110,AW139272,BC073748,DA465978,NM_001172129,NM_001172130,NM_001172131,NM_001172132,NM_001172133 AAH14435,AAH94847,AAI08931,AAI08932,AAI13855,AAI14464,AAA52644,P08631,NP_002101,CAI22966,CAI22967,CAI19694,CAI19695,EAW76392,EAW76393,EAW76394,CAA41565,BAB15482,BAF82585,BAF83617,BAG60878,AAH73748,NP_001165600,NP_001165601,NP_001165602,NP_001165603,NP_001165604,Q6GMY6 Hs.655210 JTK9 OTTHUMP00000030579|p59-HCK/p60-HCK|tyrosine-protein kinase HCK protein-coding 1342481 HCL1 hair color 1 (brown) 3056 1348375 HCL2 hair color 2 (red) 3057 1350821 HCL3 hair color 3 (brown) 8875191 3058 1312380 HCLS1 hematopoietic cell-specific Lyn substrate 1 1580863 20530793,2587259,8978766,17508001,16713569,16189514,16157603,16094384,15795233,15754022,15710041,15570572,15489334,15166239,15144186,15022330,14702039,12534372,12522270,12477932,11988074,11689006,10806407,10590261,10233887,10066823,9373149,9104825,9058808,8713105,8125298,7927516,7682714,9670936,18029348,20211142 3059 NM_005335,AC133750,CH471052,AK124015,AK298663,AK298696,AK225633,AK300301,AK312750,BC016758,BT006824,CA447092,CR456794,DC407066,X16663 NP_005326,EAW79505,EAW79506,BAG60831,BAG60854,BAG62054,BAG35617,AAH16758,AAP35470,CAG33075,CAA34651,P14317,ABM81590,ABM84770 Hs.14601 CTTNL|HS1 cortactin-like|hematopoietic lineage cell-specific protein|lckBP1|p75 protein-coding 733930 HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1 Hyperpolarization-activated cation channels of the HCN gene family, such as HCN1, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM] 1580863 9405696,19232126,18454440,18081024,17931874,16382102,14702039,12928435,12890777,12668666,12598605,12034718,11133998,9921901,9634236,9630217,8889548,17529967,20145138 348980 NM_021072,AC099514,AC114975,AC117529,AC138520,CH471119,AF064876,AF488549,AK094523,BM931647,BX537747,CR601376 NP_066550,EAW56077,EAW56078,AAC39759,AAO49469,O60741,Q86WJ6,AAI56455,AAI72530 Hs.650434 BCNG-1|BCNG1|HAC-2 brain cyclic nucleotide gated channel 1|brain cyclic nucleotide-gated channel 1|hyperpolarization-activated, cyclic nucleotide-gated potassium channel 1 (hcn1)|potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 protein-coding 732305 HCN2 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 1580863 20437590,9630217,19471099,18768480,18458081,17931874,17043149,16777944,16382102,15980171,15961404,15932727,15687126,15057824,12928435,12890777,12813043,12640457,12477932,12194012,12034718,11133998,11076863,10524219,9921901,9405696,17474147,10228147,19913121,20628086 610 NM_001194,AC004449,AC005559,AJ133727,CH471242,AF064877,AF065164,AJ012582,BC039619,DQ854815 NP_001185,AAC33280,CAB42630,EAW61179,AAC39760,AAC28444,CAB42602,ABI75145,Q09ND3,Q9UL51,AAI18002 Hs.124161 BCNG-2|BCNG2|HAC-1 brain cyclic nucleotide gated channel 2|brain cyclic nucleotide-gated channel 2|potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 protein-coding 1605973 HCN3 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 16710414,16382102,16043489,15489334,14702039,12477932,10819331,9634236,9405696,12928435 57657 NM_020897,AL713999,CH471121,AB040968,AF488550,AK055840,AK299333,BC000066,BC028024,BC111364,CR625647 NP_065948,CAI95100,EAW53081,EAW53082,EAW53083,EAW53084,EAW53085,EAW53086,BAA96059,AAO49470,BAH13004,AAH00066,AAH28024,AAI11365,Q2T9L6,Q86WJ5,Q9P1Z3,AAI56231,AAI57071 Hs.706960 KIAA1535|MGC131493 potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 protein-coding 737126 HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq] 1580863 19165230,19748888,16777944,16407510,16382102,16079136,15687126,15342556,15123648,14724293,14720471,14657344,12928435,12856183,12813043,12750403,12194012,11675786,10430953,8889548,16484306,17474147,10228147,19570998,19471099,19238754,18458081,18383475,18375593,18162181,17977941,17646576,19913121,20628086,19796353 10021 NM_005477,NG_009063,AC009660,AC068397,CH471082,AJ132429,AJ238850,BM979827,BP291686,DQ854814 NP_005468,EAW77925,CAB42604,CAB52754,Q9Y3Q4,AAI56299,AAI72471 Hs.86941 SSS2 hyperpolarization activated cyclic nucleotide-gated cation channel 4|hyperpolarization-activated, cyclic nucleotide-gated k+ 4|potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 protein-coding 1349217 HCP5 HLA complex P5 1580863 21051598,19935381,19115949,19050382,18982067,18684101,14702039,12477932,10553908,10199916,8462994,9799336,16344560,18369459,19483685,19851445,20041166,20534626,21084992 10866 NM_006674,AL645933,AL662866,CH471081,D88650,AK093953,AK290875,BC106759,BC114462,BX640979,CR626077,L06175,BC113853,BX005439,DA501560,CR753864 NP_006665,EAX03398,EAX03399,EAX03400,BAF83564,AAI06760,CAE45991,AAA59986,Q6MZN7 Hs.130838 6S2650E|D6S2650E|P5-1 HLA class I histocompatibility antigen protein P5|HLA complex protein P5|MHC class I region ORF|occurs in MHC class I region; ORF|protein P5-1 protein-coding 1605218 HCP5P10 HLA complex P5 pseudogene 10 12477932,10727083,10557312,7894158 352990 AL645935,AL928614,BX005091,BX284699,BX927141,CR759913,CT009496,AB023057,AL645929,AL671561,AL845454,BA000025,BC035659,BC035828,NR_031762 Hs.662200 P5-10|P5.9 pseudo 1348560 HCP5P12 HLA complex P5 pseudogene 12 10557312,10553908 353011 NG_002736,AL671561,BA000025,BX001005,AL645939,BX247949,BX927141,CR759769,CR788234 P5-12|P5.5|dJ377H14.11 pseudo 1352692 HCP5P13 HLA complex P5 pseudogene 13 10557312 353016 NG_002740,AL645939,BA000025,AL671561,AL844851,BX005428,BX927182,CR759769,CR788234,CR925767 J377H14.12|P5-13|P5.10|dJ377H14.12 pseudo 1344703 HCP5P14 HLA complex P5 pseudogene 14 10557312 353018 NG_002742,AL645939,AL669813,AL844851,BA000025,BX005428,BX927182,CR759769,CR788234,CR925767 P5-14|P5.6|dJ377H14.13 pseudo 1353649 HCP5P15 HLA complex P5 pseudogene 15 10557312,10553908 353021 NG_002745,AL669813,BA000025,AL645939,BX005428,CR753818,CR759790,AL844851,BX927250 P5-15|P5.11|bPG170G13.1|dJ377H14.10 pseudo 1347531 HCP5P2 HLA complex P5 pseudogene 2 10557312,7894158,20041166 352998 AB023056,AL671277,BA000025,NG_016109,AL645935,BX005091,BX927229,CR388205,CR759763,CR759943 P5-02|P5-2|P5.2 pseudo 1344209 HCP5P3 HLA complex P5 pseudogene 3 10557312,7894158 352997 AB023056,AF055066,AL671277,BA000025,NG_016108,AL645935,CR759913 P5-03|P5-3|P5.3 pseudo 1342635 HCP5P6 HLA complex P5 pseudogene 6 10557312,10553908,7894158 352993 AL845454,BX005091,BX927141,CR388220,CR759913,AB023056,AL645935,AL928614,BA000025,NG_016010 P5-06|P5-6|P5.4|bPG8G10.1 pseudo 1349202 HCP5P8 HLA complex P5 pseudogene 8 387508 731040 HCRT hypocretin (orexin) neuropeptide precursor This gene encodes a hypothalamic neuropeptide precusor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq] 1298943,728644,1642016,1642020,1358428,1358427,1358429,1358430,1600922,1600925,1600933,1600936,704404,1600919,1600923,1600935,1600932,1580863 9419374,19193897,19158946,19058789,18505777,18498421,18450961,18006690,17868933,17576097,17376528,16429482,16338760,16202475,16157481,16135994,16124668,15985489,15978554,15070969,12873798,12732338,12609745,12477932,12414876,11854267,11723284,11340621,11283317,11076863,10973318,10583376,10364220,9527442,16754659,20116928,20854137,21056546,20655364,9491897,9491885,19383226,19460850,19549926,19847903,19874574,19922146,20003098,20129934,20193740,20305645,20468064,20531237,16008971,11148249,21071097,20595012 1298943,728644,1642016,1642020,1358427,1358429,1358430,1600922,1600925,1600933,1600936,1600919,1600923,1600935,1600932 3060 NM_001524,NG_011448,AC099811,AF118885,CH471152,AF041240 NP_001515,AAD24459,EAW60810,AAC39600,O43612,AAI11916 Hs.158348 NRCLP1|OX|PPOX orexin protein-coding 734418 HCRTR1 hypocretin (orexin) receptor 1 The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq] 728644,1642020,1642016,1580863 19661287,20002100,20398908,20468064,16754659,20621130,9491897,19464259,19118115,19086053,19058789,18714784,18450961,18198212,17999203,17089135,16344560,16282319,16157481,15978554,15797953,15611118,15070969,12690115,12477932,11856342,11723285,11443222,11340621,11283317,10973318,9527442,9491885,9419374,21071097 728644,1642020,1642016 3061 NM_001525,AC114488,AF202084,AY062030,AY070269,CH471059,AF041243,AK290521,BC035686,BC074796,CO960455,CR605321,DA803650 NP_001516,AAG28020,AAL47214,AAL50221,EAX07600,EAX07601,EAX07602,AAC39601,BAF83210,AAH74796,O43613 Hs.388226 OX1R OTTHUMP00000003952|hypocretin receptor 1|hypocretin receptor type 1|hypocretin receptor-1|orexin receptor 1|orexin receptor type 1|orexin receptor-1|ox-1-R|ox1-R protein-coding 1351591 HCRTR2 hypocretin (orexin) receptor 2 The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq] 728644,1642020,1642016,1580863 9491897,19086053,19058789,18714784,18599270,18399985,17883525,17645762,17563843,17376114,16554494,15978554,15797953,15477554,15274044,15070969,12477932,11830291,11723285,11600545,11549701,11443222,11340621,11297593,11283317,11158046,11076863,10981966,10973318,9527442,9491885,9419374,19913121,20628086,19751316,20041166,20156195,20468064,16754659,20538960,21071097 728644,1642020,1642016 3062 NM_001526,NG_012447,AF202085,AF202086,AF202087,AF202088,AF202089,AF202090,AF202091,AL449104,AL591718,AY062031,CH471081,AF041245,AK307819,AK314279,BC035858,EF633107,EF633108,EF633109,EF633110 NP_001517,AAG28021,CAI19665,CAH73407,AAL47215,EAX04440,AAC39602,BAG36939,ABR23648,ABR23649,ABR23650,ABR23651,O43614,Q548Y0,AAI11377 Hs.151624,Hs.699147 OX2R hypocretin receptor type 2|orexin receptor type 2|ox-2-R|ox2-R protein-coding 1350033 HCST hematopoietic cell signal transducer This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 19329438,19075187,16339517,15048706,12740575,12477932,12426565,12426564,11398969,11239445,11015446,10528161,10426994,12975309 10870 NM_014266,NM_001007469,AD000864,AF072845,AF072844,AF122904,AF172929,AF285447,AL050163,AY359058,BC035931,BC046348,BC065224 NP_055081,NP_001007470,AAD46987,AAD46986,AAD47911,AAD50293,AAG29425,CAB43303,AAQ89417,AAH35931,AAH46348,AAH65224,Q9UBK5 Hs.117339 DAP10|DKFZP586C1522|KAP10|PIK3AP DNAX-activation protein 10|hematopoietic cell signal transducer|kinase assoc pro of ~10kDa|kinase assoc protein|membrane protein DAP10|phosphoinositide-3-kinase adaptor protein|transmembrane adapter protein KAP10 protein-coding 1346273 HCVS human coronavirus sensitivity 6285532 3063 1320330 HDAC1 histone deacetylase 1 Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq] 2306215,2306216,2306200,2306214,2306218,2306205,2306219,1580863,2316155 20731616,15615716,15640443,15831498,16865259,16963455,16964284,16982778,17000776,17008050,17074803,18029348,18851995,18936100,18948152,19011633,19029947,19041848,19561196,19617623,19729656,19738286,19759913,19793920,19800870,19819974,11062478,11136718,12711221,9150135,8646880,15509593,10777477,10846170,19424621,19416910,19383825,19252524,19182791,19064572,19015268,18850007,18806873,18789002,18765668,18714364,18708058,18671804,18644983,18588874,18552382,18408217,18372343,18362831,18347167,18342621,18212746,18093978,18037904,18004079,17996965,17961987,17923479,17935135,17910034,17897615,17850504,17786334,17670825,17663720,17609203,17548428,17470557,17395887,17371848,17369852,17239852,17081983,17056544,17022812,17005678,16960727,16914734,16914725,16870149,16569215,16528103,16377629,16374504,16337145,16319923,16287849,16172792,16166625,15927959,15829968,15826950,15722551,15668237,15653507,15635413,15592455,15590418,15489334,15469820,15467736,15456747,15451426,15361834,15333839,15325272,15316101,15298701,15273251,15235594,15207703,15199155,15194748,15155736,15138260,15077161,15042618,15016876,14968110,14691252,14647463,14645718,14645126,14633989,14530259,14506250,13679859,12972430,12947414,12943729,12920132,12890497,12847090,12829790,12821938,12808109,12789259,12724404,12705869,12670868,12665570,12634383,12612053,12590135,12586827,12579268,12567184,12493763,12482978,12477932,10220405,16407974,20400511,20609223,11350943,11331609,11319226,11302704,11287668,11285237,11259576,11238932,11226163,11146623,11118440,11102443,11099047,11013263,11006275,10969803,10944117,10933397,10904264,10898795,10888886,10888618,10873456,10840944,10734134,10704340,10688671,10669754,10655483,10615135,10581039,10490602,10487760,10471500,10471499,10444591,10409740,10357820,12466959,12464179,12450794,12426395,12398767,12393750,12374985,12354758,12242670,12202768,12198165,12177302,12176973,12124384,12091390,12087472,12052894,12045192,12032298,12032081,11994312,11960997,11959842,11940654,11931769,11929879,11919195,11909966,11896613,11867749,11855854,11836251,11788710,11749695,11739383,11684023,11641275,11641274,11602581,11568182,11564889,11552981,11532945,11486045,11438660,11430826,11427533,11390640,10199400,9804427,9790534,9724731,9722949,9694793,9651585,9650586,9627120,9520398,9491888,9468140,9468139,9373149,9371597,9150134,9150133,8602529,8602525,8289393,8125298,7760804,16838299,17934516,18206970,10611298,12788099,11784859,9765306,11470869,11171972,10220385,10779361,14637159,11101889,12198164,11022042,10995736,11533236,12015313,11266540,11931768,10640275,12015309,16169070,11238380,11804585,11777905,11466315,15148359,10545197,12242305,12183469,12393887,11756549,12665568,12150997,9346952,14668799,15388328,15710329,11447271,15711539,15120635,15688037,15775975,15619633,15735762,15674334,14506733,9486654,12419806,20415600,20498639,20049841,20398369,10983972,11863372,12371150,12473678,12529400,12711603,12904571,14593184,14678988,14752048,15060175,15140878,15173318,15899845,15970276,16197452,16306601,16331260,16387653,16464847,16511565,16540471,16565076,16728974,16762839,16766265,16919237,16959611,17158748,17172643,17255935,17353187,17468742,17540176,17827154,18156491,18172012,18316616,18326024,18850004,18854353,19049980,19081374,19099586,19124609,19339282,19339613,19343227,19438744,19497860,19503603,19531758,19561124,19581286,19644445,19683447,19686092,19740981,19801684,19802013,19819149,19822520,19828482,19855430,19912635,20037577,20081843,20144149,20154723,20379614,11553631,18822204,20438716,14559791,14612411,14670976,14673164,16428440,16478997,16481466,16483679,16611996,16630892,16645043,16649994,16651408,16652147,16697957,16699503,16728531,16734381,16738318,16787918,16820529,18619497,18634613,18644863,18722353,19061646,19351825,19394292,19433865,19454010,20967026,20802485,16107876,17182846,19062177,19070599,19081376,19101520,19235719,19244234,20001970,20022962,20478393,20702731 2306215,2306216,2306200,2306214,2306218,2306205,2306219,2316155 3065 U50079,BX648055,NM_004964,AL109945,CH471059,AB451297,AB451430,AK225555,AK296308,AK299241,AK299792,AK313061,AY627042,BC000301,CR541717,CR604646,CR611580,CR616540,CR624142,D50405 AAC50475,Q13547,Q5HYD4,Q6IT96,CAI46269,ABM82324,ABM85503,BAA08909,NP_004955,CAI22885,CAI22886,EAX07540,EAX07541,BAG70111,BAG70244,BAH12310,BAG61272,BAG61671,AAT44863,AAH00301,CAG46518 Hs.88556 DKFZp686H12203|GON-10|HD1|RPD3|RPD3L1 histone deacetylase 1|reduced potassium dependency, yeast homolog-like 1 protein-coding 1314168 HDAC10 histone deacetylase 10 Acetylation of histone core particles modulates chromatin structure and gene expression. The opposing enzymatic activities of histone acetyltransferases and histone deacetylases, such as HDAC10, determine the acetylation status of histone tails (Kao et al., 2002 [PubMed 11677242]).[supplied by OMIM] 1580863 8889548,11861901,11677242,17892858,15489334,15461802,15305372,14759258,12477932,11739383,11726666,10591208,14578343,20680488,17172643,20032463,20471694,19913121,20628086 83933 CR618050,NM_032019,NM_001159286,AL022328,CH471138,AB209419,AF393962,AF407272,AF407273,AF426160,AL512711,AY450395,BC032049,BC032423,BC094734,BC125082,BC125083,BI916349,BM983038,CA424576,CR456465,CR607842,CR609920,CR625146 NP_114408,NP_001152758,EAW73511,EAW73512,EAW73513,EAW73514,EAW73515,EAW73516,EAW73517,EAW73518,EAW73519,EAW73520,BAD92656,AAK84023,AAK92205,AAK92206,AAL30513,CAC21653,AAS48345,AAI25083,AAI25084,CAG30351,Q08AP5,Q59FP1,Q969S8,CAK54446,CAK54745 Hs.26593 DKFZp761B039|HD10|MGC149722 histone deacetylase 10 protein-coding 1323302 HDAC11 histone deacetylase 11 This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants. 1580863 11948178,12711221,11256614,19276081,19088734,19011628,18413790,17230502,17201809,16381901,16344560,16142391,16121216,15489336,15489334,14702039,12477932,11076863,16169070,20467334 79885 NM_024827,NM_001136041,AC027124,CH471055,AK025426,AK025890,AK293223,AK299021,AL137362,AL834223,AW291816,BC009676,BG708402,CR457341,CR603019,CR612266,DB025431,DB556939 CAH56375,NP_079103,NP_001129513,EAW64157,EAW64158,EAW64159,EAW64160,EAW64161,EAW64162,EAW64163,EAW64164,EAW64165,EAW64166,EAW64167,EAW64168,EAW64169,BAB15127,BAB15272,BAG56762,BAG61100,CAB70712,AAH09676,CAG33622,Q658J9,Q6IA14,Q96DB2,CAL37920,CAL38700 Hs.404802 FLJ22237|HD11 OTTHUMP00000197644|OTTHUMP00000197649|OTTHUMP00000209466|histone deacetylase 11 protein-coding 1312509 HDAC2 histone deacetylase 2 This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes and are responsible for the deacetylation of lysine residues on the N-terminal region of the core histones (H2A, H2B, H3 and H4). This protein also forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus it plays an important role in transcriptional regulation, cell cycle progression and developmental events. [provided by RefSeq] 2306214,2306215,2306200,2306205,1580863 19913121,20628086,20731616,10713181,10777477,12371150,12403844,12626569,12711603,14752048,14966270,15140878,16254079,16387653,16642021,16919237,17468742,18029348,18156491,18172012,18806873,19041327,19099586,19124609,19182791,19276356,19339282,19372552,19383825,19410558,19411311,19416910,19438744,19446037,19497860,19531758,19561124,19644445,19706751,19724929,19740981,19754958,19801684,19802013,19822520,19880520,19881542,19912635,19935709,20071335,20081843,20133912,20178884,20190809,20346000,20467334,12183469,11238380,12374985,11804585,11777905,11564889,11466315,11533236,12393887,12527756,11756549,12354758,15388328,15467736,15619633,20421305,15522123,15831498,16963455,19041848,19486889,19561196,19686092,19729656,19759913,19793920,20211142,20972425,11788710,11779848,11739383,11641274,11532945,11486036,11331609,11302704,11287668,11259576,11171972,11146623,11102443,11022042,11013263,10933397,10904264,10888872,10766745,10669754,10644367,10581039,10545197,10508171,10490602,10471500,10471499,10444591,10357820,10220405,9874765,9804427,9790534,9782097,9722949,9520398,9346952,9150135,9150134,11641275,9016636,16407974,11101889,11784859,9651585,12198550,11062478,12711221,8917507,19155214,19124506,19088080,19064572,19015268,19010907,18950845,18851967,18834886,18708058,18671804,18408217,18347167,18316616,18264134,18212746,17935135,17827154,17786334,17322895,17081983,17043312,16951198,16595694,16565220,16464847,15927959,15775975,15665816,15653507,15635413,15489334,15456770,15456747,15451426,15342556,15325272,15146197,15144953,15138260,15120635,15060175,15016876,14702039,14574404,14512427,12975471,12972430,12947414,12943729,12920132,12829790,12788942,12724404,12705869,12682367,12670868,12634383,12586827,12493763,12477932,12419806,12398767,12198164,12176973,12151407,12140263,12138131,12124384,12091390,12082111,12032298,12015313,12007404,11923873,11919195,11867749,11836251,20415600,20398369,19081374,19139378,19244234,20534591,20802485 2306214,2306215,2306200,2306205 3066 NR_033441,NM_001527,AL590398,AL671967,CH471051,AA704179,AB209190,AK092156,AK097376,AK296856,AV719958,BC013141,BC031055,BM550464,BP201509,CN304190,CN315003,CR606645,CR610322,U31814 NP_001518,CAI14206,CAI14207,CAI15363,EAW48252,EAW48253,EAW48254,EAW48255,BAD92427,BAG52487,BAG53457,BAG59420,AAH31055,AAC50814,Q59GB9,Q92769,AAI46377,AAI48798 Hs.3352 HD2|RPD3|YAF1 OTTHUMP00000017046|YY1-associated factor 1|histone deacetylase 2|transcriptional regulator homolog RPD3 protein-coding 731326 HDAC3 histone deacetylase 3 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq] 2306215,2306214,2306205,1580863 20473547,20049841,17141982,17182846,17227585,19081374,19204783,19244234,19279113,20563766,20415600,12711221,10777477,19453261,19341714,19121623,19032343,19015268,18832068,18789002,18769117,18542060,18523274,18403372,18347167,18326024,18212746,18097041,17956871,17925399,17908689,17849419,17786334,17675290,17158926,17101790,17008592,17007107,16980585,16849648,16730330,16712523,16569215,16528103,16432238,16298343,16249187,16129885,16033423,16022908,15927959,15917248,15805470,15761026,15653507,15572445,15561719,15489334,15469820,15356147,15333839,15297880,15292260,15184363,14684825,14525983,14521922,12972430,12943985,12861000,12590135,12502735,12479814,12477932,12419806,12393887,12242670,12239342,12150997,12048199,12032081,11931768,11923873,11867749,11867539,12853483,12628926,11861901,11804585,11788710,11779848,11777905,11641275,11641274,11567998,11533489,11509652,11470869,11466315,11463856,11302704,11259576,11013263,11006275,10944117,10898795,10860984,10809664,10669754,10655483,10581039,10575214,10490602,10220385,10051405,9722949,9501169,9464271,9360932,9346952,18655026,11486036,11533236,14527417,12015313,10869435,15558026,14668799,17353931,15467736,11022042,15711539,15619633,15494311,10983972,11889044,12371150,12403844,15016912,15140878,16917504,16919237,16924111,16987993,17053781,17172643,17255935,17970752,18585351,18854353,19099586,19855430,19912635,19956841,20026773,20200160,20471694,15831498,16371367,16481466,16532030,16652147,16820529,16847267,16865259,16943425,17075044,17079677,18619497,18667423,18940814,18948102,19463978,19583777,19738286,20211142,21030595,20731616 2306215,2306214,2306205 8841 NM_003883,AC008781,AF053137,AF053138,AF053139,AF059650,CH471062,AF005482,AF039703,AY429538,BC000614,BM461585,CR592966,CR594024,CR603837,CR615606,CR618922,CR623951,CR624340,DB456387,U66914,U75696,U75697 Q9H368,NP_003874,AAC08351,AAC08352,AAC26509,EAW61915,EAW61916,EAW61917,EAW61918,AAB87752,AAC98927,AAH00614,AAC52038,AAB88240,AAB88241,O15379,ABM82842,ABM86027 Hs.519632 HD3|RPD3|RPD3-2 SMAP45|histone deacetylase 3 protein-coding 1316832 HDAC4 histone deacetylase 4 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq] 1580863 19913121,20628086,10523670,12711221,19355988,19115247,19071119,19015268,18952052,18850004,18780762,18632985,18614528,18227124,18045992,17975112,17885209,17636017,17610967,17383980,17373667,17360518,17179159,16922677,16767219,16528103,16415175,16166628,16051668,16033423,15829968,15537544,15467736,15324660,15205465,15194749,15184363,15138260,15075374,12943985,12709441,12668657,12590135,12477932,12421765,12242305,12032081,11929873,11804585,11792813,11568182,11509672,11504882,11486037,11474199,11470791,11466315,11463856,11451954,11114197,11114188,11081517,10958686,10944117,10898795,10869435,10825153,10487761,10220385,10206986,9179496,9150131,9139815,9110174,8619474,18691969,11509652,12015313,10640275,10748098,14668799,15778465,11022042,15619633,19389706,20691407,16951198,16980613,19013255,20211142,20846395,10983972,12917325,15964851,16147992,16236793,16919237,16955485,17011572,17491593,17696781,19276356,19281832,19509297,19679847,19700647,19716643,19956841,20079608,20097749,20110259,20116378,20159555,20383178,20471694,16332688,16356933,16613856,17158926,17210713,17218271,19893013,20936779 9759 NG_009235,AC017028,AC062017,CH471063,AB006626,AF070607,AF132607,AI199675,AI654062,AK302719,AK303368,AK303467,AK303617,BC039904,BQ576173,CR607186,CR625452,NM_006037,AK308791,AK310488,AK310603,AK311582 Q53SM2,Q86YH7,NP_006028,AAX93070,AAX93254,EAW71165,EAW71166,BAA22957,AAD29046,BAH13789,BAH13951,BAH13968,BAH13999,AAH39904,P56524,Q53SB4 Hs.20516 AHO3|BDMR|HA6116|HD4|HDAC-A|HDACA|KIAA0288 histone deacetylase 4|histone deacetylase A protein-coding 1604649 HDAC5 histone deacetylase 5 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 10737771,10983972,12007404,12917325,15140878,15964851,16528103,16678093,16919237,18768922,19351956,19666599,19801982,20042720,20188095,10640275,11931768,11804585,10748098,12150997,15467736,11567998,12896970,14668799,15367659,15060175,11022042,11466315,15138260,15184363,15619633,15829968,12015313,12711221,10220385,10869435,19071119,18332134,18288090,18218981,18184930,17975112,16236793,16221676,15590418,15491607,15489334,15194749,15146197,14702039,12626519,12477932,12354939,12242305,12168954,12019172,11929873,11509672,11114197,11081517,11018260,10898795,9628581,9610721,11641275,16169070,19913121,20628086,16613856,19893013,15831498,16980613,17011572,17075044,18951085,20211142,21048031,20716686 10014 NM_005474,AC023855,BK000028,CH471178,AB011172,AB177853,AF039691,AF132608,AK027734,AK075095,AK093150,AK294760,BC011260,BC013140,BC038423,BC041914,BC051824,BM564861,BM998071,CN290533,NM_001015053 NP_001015053,NP_005465,DAA00017,EAW51633,EAW51634,BAA25526,BAD66831,AAC18040,AAD29047,BAB55329,BAG57895,AAH13140,AAH51824,Q5W9G6,Q96K29,Q9UQL6 Hs.438782 FLJ90614|HD5|NY-CO-9 antigen NY-CO-9|histone deacetylase 5 protein-coding 1351463 HDAC6 histone deacetylase 6 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq] 2306200,1580863 19321449,20029029,17389687,16964243,16738306,16192271,16148047,15937340,15916966,15806142,15501975,15469820,15467736,15347674,15302935,15102857,14743216,14702039,14670976,12792815,12477932,12391164,12354939,12032081,12024216,11689694,11677242,11474198,10898795,10220385,10048485,9150131,9139815,11533236,15831498,16951198,18029348,19737819,20181727,18591380,21044318,19961433,12620231,11861901,18316616,11948178,19596000,19438744,19383825,19344692,19228685,19158084,19036992,19033385,18996840,18794144,18781140,18697214,18671804,18644987,18636984,18606987,18568448,18499657,18413721,18356165,18079183,17851643,17846173,17643370,19913121,20628086,12606581,14675537,16919237,17474147,17512543,17588522,18852123,19167333,19744931,19855091,19893491,19910924,20008322,20018896,20102703,20133936,20159555,20308065,20696758,20720006 2306200 10013 BT006649,NG_012560,AF196971,CH471224,AB020708,AF132609,AF174499,AJ011972,AK001543,AK024083,AK095124,AK122954,AK127118,AK131286,AK295884,AK302926,AK303012,AK309058,AL137696,BC005872,BC011498,BC013219,BC013737,BC069243,NM_006044,CR595700 NP_006035,EAW50744,EAW50745,EAW50746,EAW50747,EAW50748,BAA74924,AAD29048,AAF36540,CAA09893,BAG50935,BAG51263,BAG52988,BAG53817,BAG54760,BAG58680,BAG64088,BAG64143,CAB70878,AAH05872,AAH11498,AAH13737,AAH69243,AAP35295,Q6NT75,Q7L3E5,Q9BRX7,Q9NSW6,Q9NZS3,Q9UBN7 Hs.6764 FLJ16239|HD6|JM21 histone deacetylase 6 protein-coding 1349346 HDAC7 histone deacetylase 7 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 708314,1580863 19913121,20628086,19355988,19240061,18625722,18617643,18509061,18506539,18463162,18458084,18339811,18285338,17997710,17947801,16980613,16860317,16541075,15738054,15623513,15489334,15364908,15324660,15302935,15280364,15166223,12753745,12711221,12551922,12477932,12239305,14702039,12970571,11929873,11466315,11262386,10922406,10640276,9373149,8125298,12015313,15778465,18029348,16956611,17360565,19351956,19784544,19917725,19966789,20224040,16980305,19029091,19738286,21048031 708314 51564 BT009771,CR615119,DC376749,BC064840,NM_001098416,NM_015401,AC004466,CH471111,AF239243,AK001032,AK001190,AK024387,AK024469,AK026767,AK027781,AK122588,AK128383,AK225910,AK299292,AK301545,AK303481,AK309547,AL117455,AY302468,AY321367,BC006453,BC020505 AAH64840,AAP88773,Q8WUI4,Q9H5S4,NP_001091886,NP_056216,EAW57952,EAW57953,EAW57954,EAW57955,EAW57956,EAW57957,EAW57958,AAF63491,BAA91474,BAA91545,BAB15759,BAB15546,BAB55363,BAC56929,BAG54670,BAG61307,BAG63042,BAG64517,CAB55935,AAQ18232,AAP84704,AAH06453,AAH20505 Hs.200063 DKFZp586J0917|FLJ99588|HD7A|HDAC7A HD7|histone deacetylase 7|histone deacetylase 7A protein-coding 1344478 HDAC8 histone deacetylase 8 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. [provided by RefSeq] 1580863 12711221,10748112,19355988,19118036,19070599,19053282,18256683,17786334,17721440,16809764,16681389,15772115,15590418,15477595,14701748,14684825,12509458,12477932,11533236,10926844,10922473,10756090,14578343,19913121,20628086,15342556,20029090,20545365,8889548,19140693 55869 NM_018486,AL133500,BX295542,CH471213,AF212246,AF230097,AF245664,AJ277724,AK074326,AK294903,AK296641,AK298767,AK300895,AY429539,BC050433,CR611822,AI651236,AI916593,BF514915,BP229332,BQ189619,BQ632790,DC352390,NG_015851,NM_001166418,NM_001166419,NM_001166420,NM_001166422,NM_001166448 NP_060956,EAW71821,EAW71822,EAW71823,EAW71824,AAK14930,AAF73076,AAF73428,CAB90213,BAG57992,BAG59242,BAG60909,BAG62534,AAH50433,Q9BY41,ABZ92351,ACE87811,ACT64512,NP_001159890,NP_001159891,NP_001159892,NP_001159894,NP_001159920 Hs.310536 CDA07|HD8|HDACL1|RPD3 OTTHUMP00000023544|OTTHUMP00000023549|histone deacetylase 8|histone deacetylase-like 1 protein-coding 1353912 HDAC9 histone deacetylase 9 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq] 1580863 19893013,20936779,18549475,12711221,18438919,17980413,17360565,17081983,16980305,16611996,16399788,15567413,15489334,15194749,14702039,14684825,12853948,12706107,12590135,12477932,12242305,12054582,12032081,11535832,11466315,11022042,10922406,10825153,10655483,10487761,10487760,9872452,9847074,11486045,10748098,11959865,14506250,15060175,15711539,10523670,19913121,20628086,19303849,19351956,19522008,19723072,20031566,20298200,20379614,15138260,16356933,20947501,20211142,20844743 9734 NM_014707,NM_178425,NM_058176,AC002088,AC002124,AC002410,AC002433,AC004744,AC004994,CH236948,CH471073,AA405905,AB018287,AF124924,AJ459808,AK095820,AK097178,AK296214,NM_178423,AK297404,AK304298,AK304343,AK304410,AK316109,AY032737,AY032738,AY197371,AY429540,BC111735,BC150328,BC152405,CR749550,NG_023250 NP_848510,NP_055522,NP_848512,NP_478056,AAS07422,AAS07423,AAS07424,AAS07401,AAS07402,AAS07409,AAD15364,AAC78618,EAW93701,EAW93702,EAW93703,EAW93704,EAW93705,EAW93706,EAW93707,EAW93708,EAW93709,EAW93710,BAA34464,AAF04254,CAD30851,BAC04630,BAC04971,BAH12283,BAH12570,BAH14153,BAH14164,BAH14176,BAH14480,AAK66821,AAK66822,AAO27363,AAI11736,AAI50329,AAI52406,CAH18349,Q68D71,Q75N08,Q75N09,Q75N10,Q75N14,Q75N15,Q75N16,Q8N879,Q8N926,Q9UKV0,Q9Y6V1,ACE87504,ACE86817,ACE86818 Hs.196054 DKFZp779K1053|HD7|HD7b|HD9|HDAC|HDAC7|HDAC7B|HDAC9B|HDAC9FL|HDRP|KIAA0744|MITR MEF-2 interacting transcription repressor (MITR) protein|MEF2-interacting transcription repressor MITR|OTTHUMP00000201768|OTTHUMP00000201927|histone deacetylase 4/5-related protein|histone deacetylase 7|histone deacetylase 7B|histone deacetylase 9|histone deacetylase-related protein protein-coding 736253 HDC histidine decarboxylase The biogenic amine histamine is an important modulator of numerous physiologic processes, including neurotransmission, gastric acid secretion, and smooth muscle tone. The biosynthesis of histamine from histidine is catalyzed by the enzyme L-histidine decarboxylase (HDC; EC 4.1.1.22). This homodimeric enzyme is a pyridoxal phosphate (PLP)-dependent decarboxylase and is highly specific for its histidine substrate.[supplied by OMIM] 1580863,704404 20608921,1487235,19156168,19133005,17672918,16919600,16849647,16822545,16760908,16344560,16297195,15928846,15167966,14670968,12768436,12679420,12477932,12372397,12371609,12020851,11566179,11556524,11411619,11380149,10785554,10350177,10224444,9865502,9654597,8786082,8288622,7851890,2216786,1768863,1425659,17703412,19258923,19266161,20379614,20445167,20503287 3067 NM_002112,AC009753,AC022087,CH471082,D16583,AK027221,AK308833,AK310479,AK311072,BC130527,BC144173,DA916790,M60445,X54297,NG_027487,AL041199 NP_002103,EAW77387,BAA04015,AAI30528,AAI44174,AAC41698,CAA38196,P19113,ADR83232 Hs.1481 MGC163399 histidine decarboxylase 2289561 BW440_H protein-coding 1316830 HDDC2 HD domain containing 2 20877624,15342556,12477932,10810093 51020 NM_016063,AL121938,CH471051,AF151888,AF529363,BC001671,BC003357,BC061520,BC066332,BE743302,BP257644,CR595765,DB447428 NP_057147,CAI19646,EAW48136,EAW48137,EAW48138,EAW48139,EAW48140,EAW48141,AAD34125,AAQ09597,AAH01671,AAH03357,AAH66332,Q7Z4H3 Hs.32826 C6orf74|CGI-130|MGC87330|NS5ATP2|dJ167O5.2 HCV NS5A-transactivated protein 2|HD domain-containing protein 2|OTTHUMP00000017137|hepatitis C virus NS5A-transactivated protein 2 protein-coding 1606390 HDDC3 HD domain containing 3 16572171,16189514,15489334,14702039,12477932,17207965,20818390 374659 NM_198527,AC068831,CH471101,AK057584,BC033794,CR625970 NP_940929,EAX02125,EAX02126,AAH33794,Q8N4P3,ADQ32799 Hs.349979 MESH1|MGC45386 (ppGpp)ase|HD domain-containing protein 3|guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1|metazoan SpoT homolog 1|metazoan SpoT homolog-1|penta-phosphate guanosine-3'-pyrophosphohydrolase protein-coding 735331 HDGF hepatoma-derived growth factor (high-mobility group protein 1-like) This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. This gene was thought initially to be located on chromosome X, however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 7929202,19144156,18651222,18331345,17974029,17487837,17473954,17062679,16344560,15560738,15489334,15146197,15017145,14751852,14702039,14535987,12972397,12477932,11751870,8833162,15870924,19432814,15761153,16710414,18478933,19162039,19710540 3068 CN392158,CN396181,CR593023,CR608806,CR614061,CR626656,D16431,DA207052,DA367806,DR159090,F36780,NM_001126050,NM_001126051,AL590666,CH471121,AK096411,AK292325,AK298342,AK304468,AK315514,AL833592,AU131311,BC018991,NM_004494 BAA03903,P51858,Q5SZ07,Q5SZ08,ABM84332,ABM87723,NP_004485,NP_001119522,NP_001119523,CAI16347,CAI16348,CAI16349,EAW52910,EAW52911,EAW52912,BAG53283,BAF85014,BAH12761,BAH14194,BAG37895,AAH18991 Hs.506748 DKFZp686J1764|FLJ96580|HMG1L2 HMG-1L2|hepatoma-derived growth factor|high mobility group protein 1-like 2|high-mobility group protein 1-like protein-coding 1606489 HDGF2 hepatoma-derived growth factor-related protein 2 This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. Two alternatively spliced transcript variants encoding slightly different isoforms have been found for this gene. [provided by RefSeq] 17353931,16337983,14702039,12975309,12477932,9299445,15797927 84717 NM_001001520,NM_032631,AC011498,CH471139,AB208892,AF294267,AK027353,AY358600,BC000755,BC009449,BE745571,BI826321,BI905780,BM147540,CR590767,CR611041 NP_001001520,NP_116020,EAW69215,EAW69216,BAD92129,AAP97281,AAQ88963,AAH00755,AAH09449,Q59H67,Q7Z4V5,ABM83101,ABM86296 Hs.43071 HDGF2|MGC2641 HDGF-2|HRP-2|hepatoma-derived growth factor 2|hepatoma-derived growth factor-related protein 2 protein-coding 1344578 HDGFL1 hepatoma derived growth factor-like 1 20509080,16344560,14702039 154150 NM_138574,AL033539,CH471087,AK056824,CD358518,DB020205,HC007252,HC044527 NP_612641,CAB75688,EAW55436,BAB71292,Q5TGJ6,AAI72324,CBH19431,CBH30593 Hs.629246 PWWP1|dJ309H15.1 HDGF (hepatoma-derived growth factor) like|PWWP domain containing 1|PWWP domain-containing protein 1|hepatoma-derived growth factor-like protein 1|pwwp domain containing 1 protein-coding 1347851 HDGFP hepatoma-derived growth factor (high-mobility group protein 1-like) pseudogene 474167 NG_004722,AL109853 HDGFP pseudo 1606795 HDGFRP3 hepatoma-derived growth factor, related protein 3 10581169,15761153,15489334,15371438,14702039,12477932,10810093,16337983,19237540 50810 NM_016073,AC024270,AC103876,CH471188,AB029156,AF110642,AF151900,AK001280,AL109689,BC015483,BC040554,CR596986,CR598906,CR611705 NP_057157,EAW62425,EAW62426,EAW62427,BAA90477,AAM27001,AAD34137,BAA91597,CAB52021,AAH15483,Q9UMB4,Q9Y3E1 Hs.513954 CGI-142|HDGF2 HDGF-2|HRP-3|hepatoma-derived growth factor 2|hepatoma-derived growth factor-related protein 3 protein-coding 1344399 HDHD1A haloacid dehalogenase-like hydrolase domain containing 1A 1580863 9055824,16344560,15489334,12477932,11337467,9373149,8125298,1734713,1284467,20722631 8226 NG_021256,NM_001178135,NM_001178136,AK300985,AK307088,AK313155,AU099056,AU141098,BC012494,BE019082,BG419948,CR607831,CR616592,DA653367,DC388394,DR156836,M86934,NM_012080,NM_001135565,AC073583,CH471074,AA262524,AK223405,AK300740 NP_001171606,NP_001171607,BAH13339,BAG62605,BAG35973,AAH12494,AAA58622,Q08623,NP_036212,NP_001129037,EAW98746,EAW98747,EAW98748,BAD97125 Hs.185910 DXF68S1E|FAM16AX|GS1|HDHD1A family with sequence similarity 16, member A, X-linked|haloacid dehalogenase-like hydrolase domain containing 1A|haloacid dehalogenase-like hydrolase domain-containing protein 1|haloacid dehalogenase-like hydrolase domain-containing protein 1A protein-coding 1354012 HDHD1BP HDHD family member 1B, pseudogene 9847074,1284467 327658 NG_002612,AC006998 FAM16AY|HDHD1BP pseudo 1347832 HDHD1CP HDHD family member 1C, pseudogene 1284467 327659 NG_002613,AL589986 FAM16B|HDHD1CP pseudo 2947562 HDHD1DP HDHD family member 1D, pseudogene 391242 AL121756,NG_021980 HDHD1DP pseudo 1348609 HDHD2 haloacid dehalogenase-like hydrolase domain containing 2 737633,1580863 16381901,15489336,14702039,12477932,11230166,11076863,9373149,8125298,16169070 737633 84064 NM_032124,AC012254,AC051635,CH471096,AK054590,AK292098,AL136681,BC011894,BC033031,BC038100,CR533487,CR596274,CR610751,CR626039 NP_115500,EAW62905,EAW62906,EAW62907,EAW62908,BAB70768,BAF84787,CAB66616,AAH11894,AAH33031,AAH38100,CAG38518,Q9H0R4,CAL38357 Hs.465041 3110052N05Rik|DKFZP564D1378|DKFZp564D1378 haloacid dehalogenase-like hydrolase domain-containing protein 2 protein-coding 1351910 HDHD3 haloacid dehalogenase-like hydrolase domain containing 3 737633,1580863 16189514,14702039,12477932,19060904 737633 81932 AL137066,CH471090,AJ420424,AK097067,AK315401,BC005048,BC031878,CR590490,CR602117,CR609038,CR620220,CR622772,NM_031219 Q9BSH5,NP_112496,CAH70098,EAW87375,EAW87376,EAW87377,EAW87378,BAG53418,BAG37794,AAH05048,AAH31878 Hs.7739 2810435D12Rik|C9orf158|MGC12904 haloacid dehalogenase-like hydrolase domain-containing protein 3 protein-coding 732166 HDLBP high density lipoprotein binding protein High density lipoprotein-binding protein, also known as vigilin, is a 110-kD protein that specifically binds HDL molecules and may function in the removal of excess cellular cholesterol.[supplied by OMIM] 1580863 19913121,20628086,18029348,19878569,19950580,20442750,14702039,15231748,15109574,14500828,12543931,12488461,12477932,12107412,11284697,10657246,9409201,8681952,8605996,8477745,8390966,8168838,3034894,1318310,17353931,18648073,17081983,15723802,15592455,15489334,15302935,20936779,20974809 3069 AK300312,AK309075,AK312335,AL701577,BC001179,BC007961,BC009422,BC014305,BC021817,BC038965,BC058826,BC113120,BG476584,BG720303,BG769363,BX647759,CD672674,M64098,BX648235,NM_203346,AC104841,CH471063,CQ834792,X92544,X92545,AF116718,AK026138,AK092755,AK127833,AK131375,AK296684,NM_005336 BAG59280,BAG62064,BAG35256,AAH01179,AAH14305,AAI13121,AAA35962,Q00341,Q2HJC8,Q5HYC5,Q6ZN49,Q6ZS03,Q96CF6,Q9P1C0,CAI46262,ABM82813,ABW03453,NP_005327,NP_976221,AAY14717,EAW71253,EAW71254,EAW71255,EAW71256,CAH05611,AAF71138,BAC87153,BAD18526 Hs.471851 FLJ16432|HBP|PRO2900|VGL HDL-binding protein|OTTHUMP00000200290|high density lipoprotein-binding protein|lipoprotein-binding protein|vigilin protein-coding 1349697 HDLCQ1 high density lipoprotein cholesterol level QTL 1 11743583 192144 1348226 HDX highly divergent homeobox 14702039,12477932,16344560 139324 NM_144657,AL022160,AL035552,AL450471,CH471104,AK055240,AK290050,BC101720,BC101722,BC143522,BX538112,BX649166,DA719263,NG_017158,NM_001177478,NM_001177479 NP_653258,CAI42095,CAI42096,CAI42056,EAW98572,EAW98573,EAW98574,BAB70886,BAF82739,AAI01721,AAI01723,AAI43523,CAD98024,Q7Z353,NP_001170949,NP_001170950 Hs.559546 CXorf43|D030011N01Rik|FLJ30678|MGC126769|MGC126771 OTTHUMP00000023619|OTTHUMP00000217521|highly divergent homeobox protein-coding 1605668 HEATR1 HEAT repeat containing 1 15231747,17353931,16710414,15146197,15028280,12477932,12429849,10737800,16344560,14702039 55127 NM_018072,AL359921,AX067150,CH471098,AK001221,AK001857,AK095692,AK098212,AK125663,AK304129,AK316413,AL599555,BC011983,BC035302,BC062442,BC065205,BC130000,BC150614,BQ376007,BU102172,CK002719,CN357968,CR626198,DB067322 NP_060542,CAI13775,CAI13776,CAI13777,CAC26776,EAW70060,EAW70061,EAW70062,EAW70063,BAA91564,BAC05261,BAG54233,BAG65025,BAH14784,AAH11983,AAH62442,AAH65205,AAI30001,AAI50615,Q5T3Q7,Q6P664,Q8N7L7,Q96ES5,Q9H583 Hs.708114 BAP28|FLJ10359|MGC72083|RP11-385F5.3 HEAT repeat-containing protein 1|protein BAP28 protein-coding 1606283 HEATR2 HEAT repeat containing 2 18838000,17353931,16341674,15489334,14702039,12477932,9373149,8125298,16169070 54919 NM_017802,AC144411,CH236965,CH471144,AK000404,AK054595,AK056233,AK096700,AK098430,AK225507,AL832914,BC010850,BC047240,BC072425,BC094840,BM743055,CB238804 NP_060272,EAW87168,EAW87169,EAW87170,EAW87171,EAW87172,EAW87173,BAA91142,BAG51395,BAG51654,BAG53353,CAH10624,AAH10850,AAH47240,Q86Y56 Hs.535896 FLJ20397|FLJ25564|FLJ31671|FLJ39381 HEAT repeat-containing protein 2|OTTHUMP00000199962 protein-coding 1602884 HEATR3 HEAT repeat containing 3 15489334,14702039,12477932 55027 NM_182922,AC007610,CH471092,AF462442,AK000725,AK289949,BC014415,BC018730,BC033077 NP_891552,EAW82743,EAW82744,EAW82745,AAP97710,BAA91342,BAF82638,AAH14415,AAH18730,AAH33077,Q7Z4Q2 Hs.313917 FLJ20718 HEAT repeat-containing protein 3|OTTHUMP00000164229 protein-coding 1602622 HEATR4 HEAT repeat containing 4 18029348,15489334,14702039,12477932,20736409 399671 NM_203309,AC005225,AC005280,CH471061,AK093515,BC047590,GU727638,AK302564 NP_976054,EAW81116,EAW81117,AAH47590,Q86WZ0,ADU87640,BAH13745 Hs.660774 MGC48595 HEAT repeat-containing protein 4 protein-coding 1347266 HEATR5A HEAT repeat containing 5A 14702039,12477932,11181995,10718198 25938 NM_015473,AL136418,AL139353,CH471078,AB037737,AK000343,AK023789,AK092400,AK092933,AK302829,AL117511,BC045764,BC062720,BC063867,CR749444 NP_056288,EAW65947,EAW65948,EAW65949,BAA92554,BAA91098,BAG64024,CAB55971,AAH45764,AAH62720,AAH63867,CAH18282,Q86XA9 Hs.370299 C14orf125|DKFZp781E083|MGC72028 HEAT repeat-containing protein 5A protein-coding 1604000 HEATR5B HEAT repeat containing 5B 19023099,17975119,14702039,10718198,21076409,12477932,20379614 54497 AC007404,AC007899,CH471053,AB037835,AK001513,AK026928,AK096637,AL832880,AV759566,BC150605,BX538008,BX648805,CR618236,NM_019024 NP_061897,EAX00412,EAX00413,BAA92652,BAA91733,AAI50606,CAD97959,Q9P2D3 Hs.727583 KIAA1414 HEAT repeat-containing protein 5B protein-coding 1606785 HEATR6 HEAT repeat containing 6 16344560,12755490,12477932 63897 NM_022070,AC005702,AC025048,CH471109,AF349752,AK025740,AK026070,AK127708,AK314655,BC119771,BC119813,BX640819,BX640831,CR627418,DA375099 NP_071353,EAW94369,EAW94370,AAL83912,BAB15229,BAB15348,BAG54555,AAI19772,AAI19814,CAE45895,CAE45906,CAH10506,Q0VD96,Q6AI08 Hs.591183 ABC1|DKFZp686D22141|FLJ22087|MGC148096 HEAT repeat-containing protein 6|amplified in breast cancer 1|amplified in breast cancer protein 1 protein-coding 2302193 HEATR7A HEAT repeat containing 7A 16344560,15146197,14702039,12477932,11347906,20379614 727957 NM_032450,NM_001099280,NM_001099281,AC104592,AC145291,CH471162,AB058736,AK023386,AK092861,AK093563,AK093585,AK124551,AK295740,AL834145,AL834309,BC017118,BC040742,BC057824,BC067855,BC092486,BC146603,CN333563,CR625503,DA934047 NP_115826,NP_001092750,NP_001092751,EAW82134,EAW82140,EAW82143,BAB47462,BAG58577,CAD38858,CAD38979,AAH17118,AAH40742,AAH57824,AAH67855,AAH92486,Q8NDA8,Q96AG6 Hs.443139 DKFZp434I0113|DKFZp434P167|FLJ13324|FLJ35542|FLJ36244|FLJ36266|FLJ42560|KIAA1833|MGC50841 HEAT repeat-containing protein 7A protein-coding 2302189 HEATR7B1 HEAT repeat containing 7B1 20379614,12477932 339766 XM_291007,XM_939706,XM_001721240,AC005538,AC006985,CH471063,BC042133 A6NES4,XP_291007,XP_944799,XP_001721292,EAW71063,AAH42133,Q8IUR1 Hs.361778 HEAT repeat-containing protein 7B1|OTTHUMP00000065067 protein-coding 1604530 HEATR7B2 HEAT repeat family member 7B2 19221116,14702039,12477932,20379614 133558 NM_173489,AC114967,CH471119,AF432068,AK097562,AK126005,AK128183,AL832763,BC026008,BC034600,BC044937,BC052962,BF979306,CR749346,HC006994 NP_775760,EAW56009,EAW56010,EAW56011,AAP97306,BAC05103,BAG54275,BAG54644,AAH34600,AAH52962,CAH18199,Q4G0Z6,Q7Z745,CBH19302 Hs.97714 DKFZp781F0822|FLJ40243 HEAT repeat family member 7B2|HEAT repeat family member B2|HEAT repeat-containing protein 7B2 protein-coding 1312101 HEBP1 heme binding protein 1 The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. 10640688,15623572,15489334,12477932,17237393,12413491,8889548,20379614,19913121,20628086,18577758 50865 AC007688,CH471094,AA699304,AF117615,AF167473,AW452041,BC016277,NM_015987,BI550915,BT007294,CF126276,CR613893,CR621039,AK289877 NP_057071,EAW96295,EAW96296,AAD32098,AAF89618,AAH16277,AAP35958,Q9NRV9,ABM83264,ABM86469,BAF82566 Hs.642618 HBP|HEBP heme-binding protein 1|p22HBP protein-coding 1323071 HEBP2 heme binding protein 2 17098234,16189514,15489334,14574404,12477932,11827465,10640688,2018407,19574650,19901022 23593 NM_014320,AL031003,AL391669,CH471051,AF117616,AF411610,AK057928,AY427823,BC008205,BC010290,BC016806,BC016807,BC093037,BF974311,CR602643,CR614177 NP_055135,CAI20538,CAI20539,EAW47917,AAD32099,AAL07394,AAR88624,AAH08205,AAH10290,AAH16806,AAH16807,AAH93037,Q05DB4,Q9Y5Z4 Hs.486589 C6ORF34B|C6orf34|KIAA1244|PP23|RP3-422G23.1|SOUL heme-binding protein 2|placental protein 23 protein-coding 1312483 HECA headcase homolog (Drosophila) This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq] 1580863 11696983,19240061,16525680,15489334,14574404,12477932,19643820 51696 NM_016217,AB033496,AL031772,AL117651,CH471051,AB033492,AJ420550,BC070068 NP_057301,BAA85333,CAB94782,EAW47901,BAA85322,AAH70068,Q9UBI9 Hs.197644 HDC|HDCL|HHDC|dJ225E12.1 headcase protein homolog protein-coding 1350415 HECTD1 HECT domain containing 1 1580863 16344560,15489334,15324660,14702039,12477932,12421765,10574461,19615732 25831 AL121808,AL136418,CH471078,AB032957,AK024847,AK095634,AK125788,AL110222,AY254380,AY739714,BC006237,BC011658,NM_015382,BC063686,BC072441,BC083494,CR618282,DA440215,DA818448 AAH11658,NP_056197,EAW65950,EAW65951,EAW65952,BAA86445,BAG54248,CAB53681,AAP13073,AAW65983,AAH06237,AAH63686,AAH83494,Q2KQ74,Q5XJ19,Q9BRJ0,Q9ULT8,AAI72391 Hs.708017 FLJ38315|KIAA1131 E3 ligase for inhibin receptor|E3 ubiquitin-protein ligase HECTD1|EULIR|HECT domain-containing protein 1 protein-coding 1313620 HECTD2 HECT domain containing 2 19214206,15489334,15164054,14702039,12477932,9110174,8619474,16385451,19754925 143279 NM_182765,NM_173497,AC023902,AL161798,CH471066,AF131793,AK094625,AK122629,AK295723,AL713675,AL832073,BC036487,BC040187,BX537856 NP_877497,NP_775768,CAH70050,CAH70052,CAH70053,EAW50109,EAW50110,EAW50111,BAC04388,BAG53630,BAG58564,CAD28480,CAH10405,AAH40187,Q5U5R9,Q5VZ98,Q69YR7,Q8N1X7,ACE87644,ACE86953 Hs.596096 FLJ16050 HECT domain-containing protein 2|probable E3 ubiquitin-protein ligase HECTD2 protein-coding 1606229 HECTD3 HECT domain containing 3 18194665,16710414,16344560,15489334,14702039,12665801,12477932,8889549,8889548,18821010 79654 AA001245,AK056545,AK056873,AK091583,AK096462,AK301124,AW170440,BC012829,BC019105,BC126352,BC130470,BQ215795,CA314393,CR618738,DA332198,NM_024602,AL359473,CH471059 EAX07010,BAG51742,BAG51819,BAG52386,BAG53296,BAG62718,AAH19105,AAI26353,AAI30471,Q5T447,NP_078878,CAI16437,CAI16438,EAX07009 Hs.525084 FLJ21156|FLJ31983|MGC161630|RP11-69J16.1 E3 ubiquitin-protein ligase HECTD3|HECT domain-containing protein 3|probable E3 ubiquitin-protein ligase HECTD3 protein-coding 1352203 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1580863 18029348,18223681,14702039,14684739,12690205,12168954,9205841,11244092,16713569 23072 NM_015052,AC004455,AC004692,AC005537,AC006365,CH236951,CH471073,AB002320,AB048365,AK022679,AK090799,AK294918,AL079731,AL536075,BC151227,CR594355 NP_055867,EAL24007,EAW94158,EAW94159,EAW94160,BAA20780,BAB13352,BAG52230,BAG58003,AAI51228,Q76N89 Hs.164453 KIAA0322|NEDL1 E3 ubiquitin-protein ligase HECW1|HECT type E3 ubiquitin ligase|HECT, C2 and WW domain-containing protein 1|NEDD4-like E3 ubiquitin-protein ligase 1|NEDD4-like ubiquitin-protein ligase 1|OTTHUMP00000207413|hNEDL1 protein-coding 1349400 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 15489334,12890487,12477932,10718198,20379614 57520 NM_020760,AC020571,AC068544,AC073905,AC074090,AC093379,CH471063,AB037722,BC117194,BC117198,CR749424,AL390186 NP_065811,EAW70123,BAA92539,CAB99103,AAI17195,AAI17199,CAH18262,Q9P2P5 Hs.654742 DKFZp686M17164|NEDL2 E3 ubiquitin-protein ligase HECW2|HECT, C2 and WW domain-containing protein 2|NEDD4-like E3 ubiquitin-protein ligase 2|NEDD4-related E3 ubiquitin ligase NEDL2|OTTHUMP00000205738 protein-coding 1603204 HEG1 HEG homolog 1 (zebrafish) 16303743,14680629,12477932,10574462,20379614 57493 NM_020733,AC026342,AC092983,AC117488,AB033063,AF173887,AK074987,BC004539,BC014053,BC047661,BC067235,DR003209 NP_065784,BAA86551,AAQ13634,BAC11336,AAH04539,AAH67235,Q7Z2S9,Q9ULI3 Hs.477420 HEG|KIAA1237|MGC72175|MST112|MSTP112 protein HEG homolog 1 protein-coding 1344471 HELB helicase (DNA) B The protein encoded by this gene is a DNA helicase. A dominant-negative mutant of this protein blocks chromosomal DNA replication and suggests that its function is required for S phase entry. [provided by RefSeq] 1580863 8889549,17148452,12181327,12477932,11557815 92797 BC037946,NM_033647,AC078889,CH471054,AA070301,AF319995,AK290894,BC143409,BC143411 NP_387467,EAW97165,EAW97166,EAW97167,AAM73554,BAF83583,Q8NG08,AAI48593,AAI57020 Hs.505941 DNA helicase B|hDHB|helicase B protein-coding 1346644 HELLS helicase, lymphoid-specific This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 17643375,19561196,19064572,18948754,17967891,15489334,15164054,15105378,14702039,12880961,12477932,10910076,9878251,9110174,8889549,8619474,15305370 3070 AB074174,AB102716,AB102717,AB102718,AB102719,AB102720,AB102721,AB102722,AB102723,AB113248,AB113249,AF155827,AK001201,AK022928,AK308331,AK314485,AY007108,BC015477,BC029381,BC030963,BC031004,BC068440,BC105606,BC111789,BX538033,NM_018063,AC090439,AL138759,CH471066 EAW50035,EAW50036,EAW50037,EAW50038,BAE45737,BAD10844,BAD10845,BAD10846,BAD10847,BAD10848,BAD10849,BAD10850,BAD10851,BAD24804,BAD24805,EAW50034,AAF82262,BAA91550,BAG37088,AAG01987,AAH15477,AAH29381,AAH30963,AAH31004,AAI05607,CAD97978,Q0VGL2,Q6I7N8,Q76H82,Q9NRZ9,Q9NW36,AAI46309,ACE87386,ACE86702,NP_060533,CAD13191,CAH70222,CAH70224,EAW50026,EAW50027,EAW50028,EAW50029,EAW50030,EAW50031,EAW50032,EAW50033 Hs.655830 FLJ10339|LSH|Nbla10143|PASG|SMARCA6 SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6|SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6|lymphoid-specific helicase|proliferation-associated SNF2-like protein protein-coding 1605893 HELQ helicase, POLQ-like HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM] 18270339,16344560,12794064,12477932,11751861,20379614,20800603 113510 NM_133636,AC096768,CH471057,AF436845,AK126255,AK128665,AK308395,AK312725,AL512702,BC011863,BC015428,BC065814,BC095473,BC111502,CK905810,DB081240 NP_598375,EAX05934,EAX05935,EAX05936,AAL85274,BAC87559,CAH56359,AAH15428,AAH95473,Q8TDG4,AAI41525 Hs.480101 HEL308|MGC20604 DNA helicase HEL308|OTTHUMP00000219793|POLQ-like helicase|helicase POLQ-like|mus308-like helicase protein-coding 2292703 HELT HES/HEY-like transcription factor 16644143,15815621,15489334,15375612,14764602,12477932 391723 NM_001029887,AC093824,CH471056,BC140795,BC144567,BC144569 NP_001025058,EAX04657,EAX04658,AAI40796,AAI44568,AAI44570,A6NFD8,AAI60136 Hs.531242 HCM1228|HESL|Mgn|bHLHb44 HES-like|Heslike|Hey-like transcription factor|Hey-like transcriptional repressor|Megane bHLH factor|OTTHUMP00000218305|hairy and enhancer of split-related protein HELT protein-coding 1316013 HELZ helicase with zinc finger HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM] 1580863 15342556,15302935,15235609,12691822,12477932,10471385,7584044,12615363,20378664,20936779 9931 NM_014877,AC005544,AC007448,CH471099,AA885317,AI271466,AK310217,AL110161,AL832149,BC056895,BC094881,BC130582,BC144083,BP353830,D29677 NP_055692,EAW89023,EAW89024,AAH56895,AAH94881,AAI30583,AAI44084,BAA06147,P42694,Q6PGP6 Hs.370140,Hs.569824 DHRC|DKFZp586G1924|DRHC|HUMORF5|KIAA0054|MGC163454 down-regulated in human cancers protein|helicase with zinc finger domain|probable helicase with zinc finger domain protein-coding 1351335 HEMGN hemogen 1580863 18599389,17671716,16437149,15920494,15489334,15332117,15164053,14730214,14648837,12477932,11483580,11404085,20564185,19197348,19779022 55363 BC048324,BG571634,BG717036,AY255672,NM_018437,NM_197978,AL354726,AL499604,CH471105,AF116617,AF228713,AF306681,AF306682,AF306683,AF322875,AK292441,AL833094,AY244805 AAP81221,AAH48324,Q9BXL5,NP_060907,NP_932095,CAI12808,EAW58861,EAW58862,EAW58863,AAF71041,AAF67133,AAK26295,BAF85130,AAP75762 Hs.176626 EDAG|EDAG-1 OTTHUMP00000021758|erythroid differentiation-associated gene protein|hemogen|hemopoietic gene protein|negative differentiation regulator protein protein-coding 1343848 HEMK1 HemK methyltransferase family member 1 1580863 20877624,18541145,15489334,12477932,10690633 51409 NM_016173,AC096920,AL137466,CH471055,AF131220,AF172244,AK025973,AK124369,AK314023,BC000781,BX537562,CR600760 NP_057257,EAW65125,EAW65126,AAD26417,AAD51328,BAG36734,AAH00781,Q9Y5R4,ABM83079,ABM83084,ABM86279 Hs.517987,Hs.599362 FLJ22320|HEMK|MTQ1 HEMK homolog 7kb|hemK methyltransferase family member 1|m.HsaHemKP protein-coding 1605560 HEPACAM hepatocyte cell adhesion molecule 19142852,19059381,18845560,18293412,18082421,16344560,15917256,15885354,12477932,12971969,19507233,20205955,20237496,20593288,20514407 220296 NM_152722,AP003501,CH471065,AK098396,AK122595,AL834419,AY047587,BC037810,BC104831,BC113562,DA239226 NP_689935,EAW67614,EAW67615,EAW67616,BAC05297,BAC85486,CAD39081,AAQ93018,AAI04832,AAI13563,Q14CZ8 Hs.727850 FLJ25530|GlialCAM cancer susceptibility|hepatocyte cell adhesion molecule|protein hepaCAM protein-coding 1602173 HEPACAM2 HEPACAM family member 2 14702039,12975309,12477932 253012 NM_198151,NM_001039372,AC000119,AC002453,CH236949,AK096002,AK298361,AY358345,BC046365,BC136300,BC136301,BC139906 NP_937794,NP_001034461,BAG53196,BAG60603,AAQ88711,AAI36301,AAI36302,AAI39907,A8MVW5 Hs.443169 HEPACAM family member 2|OTTHUMP00000208682 protein-coding 734284 HEPH hephaestin The protein encoded by this gene is similar to an iron transport protein found in mouse. The mouse protein is similar to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects in this gene can lead to severe microcytic anemia. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 18022819,17486601,16274220,16137899,15489334,14702039,12975309,12949720,12477932,12168954,11932491,11891802,10843811,9988272,9734811,20932654,20587610,15146197,19452451,20019163 9843 AK311043,NM_138737,NM_001130860,NM_014799,AL030998,AL157698,CH471132,DQ496100,AB014598,AF075034,AF148860,AJ296162,AK022472,AK294278,AK295456,AK307761,AK316231,AY358990,BC011561,CN361718,NG_016265 CAI42810,NP_620074,NP_001124332,NP_055614,CAI42807,CAI42808,CAI42809,CAI41471,CAI41472,EAX05384,EAX05385,EAX05386,EAX05387,EAX05388,ABF47089,BAA31673,AAK08131,CAC35365,BAG57564,BAG58390,BAH14602,AAQ89349,AAH11561,Q5JZ07,Q5JZ08,Q9BQS7,ABM84554,ABW03479,ACE87178,ACE86497 Hs.31720 CPL|KIAA0698 OTTHUMP00000023444|OTTHUMP00000023446|OTTHUMP00000210958|hephaestin protein-coding 1345614 HEPHL1 hephaestin-like 1 20379614 341208 NM_001098672,AP002795,AP003966,AB231719,BX641008,EG328157 NP_001092142,BAE46880,CAE46009,Q6MZM0 Hs.669645 DKFZp686F22190 hephaestin-like protein 1 protein-coding 2298739 HEPN1 HEPACAM opposite strand 1 15917256,15885354,15489334,12971969 641654 NM_001037558,AP003501,AY275431 NP_001032647,AAQ19120,Q6WQI6,AAI48522,AAI56584 Hs.159863 cancer susceptibility gene HEPN1|putative cancer susceptibility gene HEPN1 protein protein-coding 1314942 HERC1 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 The protein encoded by this gene stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein is throught to be involved in membrane transport processes [provided by RefSeq] 1580863 8861955,19618402,16344560,15642342,14960311,14702039,12650930,12477932,10516438,9949213,9233772,9110174,8889548,8619474,17353931,15231748,16051665 8925 AK296690,NM_003922,AC015914,AC073167,AC118274,CH471082,AF131824,AK091624,AK226162,AK310519,AL041045,AW576595,AY030081,BC040929,BM727478,BQ216911,BQ883457,DB117652,U50078 NP_003913,EAW77654,EAW77655,EAW77656,BAG59284,AAH40929,AAD12586,Q15751 Hs.210385 p532|p619 HECT domain and RCC1-like domain-containing protein 1|guanine nucleotide exchange factor p532|hect domain and RCC1-like domain 1|probable E3 ubiquitin-protein ligase HERC1 protein-coding 1317498 HERC2 hect domain and RLD 2 1580863 9949213,19472299,19422935,19208107,19174780,19068216,18528436,18483556,18438405,18252222,18252221,18172690,17952075,17081983,15203218,15146197,14702039,12477932,11752456,10737800,10720573,10441737,9205841,17353931,20936779,15231748,17148452,19615732,20176734,20304803,20379614,20457063,20463881,19913121,20585627,20616560,20628086,20629734,20631078,20886065 8924 AC091304,AC126332,AC135329,AF224243,AF224245,AF224249,AF224251,AF224252,AF224253,AF224255,AF224257,AF225401,AF225404,AF225407,AF225409,AF071172,AI820017,AK122977,AK125229,AL834183,AV692570,AW504156,AW897649,BC015486,BC045544,BC142951,BC148318,BF332492,BQ059143,BX440995,BX451582,CD619122,CN302846,NM_004667,NG_016355 AAO27473,AAO27474,AAO27475,AAO27476,AAO27477,AAO27478,AAO27479,AAO27480,AAO27481,AAO27482,AAO27483,AAO27484,AAD08657,CAD38880,AAI48319,O95714,Q8ND39,NP_004658 Hs.434890,Hs.610412 D15F37S1|DKFZp547P028|KIAA0393|SHEP1|jdf2|p528 E3 ubiquitin-protein ligase HERC2|hect domain and RCC1-like domain-containing protein 2|probable E3 ubiquitin-protein ligase HERC2 protein-coding 1348344 HERC2P1 hect domain and RLD 2 pseudogene 1 9730612,9949213,9730612 8917,8923 AC091304,NG_005644,AC138747 D15F37S2 pseudo 1348486 HERC2P2 hect domain and RLD 2 pseudogene 2 16344560,14702039,12477932,9949213,9730612,9205841,1608955,19615732 400322 NR_002824,AC091565,AC100757,AA976147,AB002391,AF041080,AK095014,AK307870,AK308640,AK309255,AL512684,BC128547,CR749409,DB069140,AF041081 BAA20846,CAH18252,Q68DG8 Hs.458334,Hs.531509 D15F37S3|MN7 pseudo 1606115 HERC2P3 hect domain and RLD 2 pseudogene 3 15146197,12477932,9949213,9730612,1608955 283755 BC144698,NR_036432,X69636,AC026495,AC138748,BC000975,BC033888,BC094757,CN398998,AK294470,AK294795 Q9BVR0,AAI66678,BAH11780,BAH11887 Hs.531509,Hs.655732 D15F37S4 pseudo 1343541 HERC2P4 hect domain and RLD 2 pseudogene 4 12477932,9730612 440362 NR_002827,AC133485,BC038215 Hs.531536 D16F37S5 pseudo 1346601 HERC2P5 hect domain and RLD 2 pseudogene 5 9730612 388254 NG_005349,AC137761,AC138907 D16F37S6 pseudo 1348261 HERC2P6 hect domain and RLD 2 pseudogene 6 10417280,9949213 8918 NG_005348,AC100756,AF140516,AF140517 pseudo 1350245 HERC2P7 hect domain and RLD 2 pseudogene 7 9949213 100132101 AC100757,BC012949,NR_036470,AF071178 Hs.525680 pseudo 4140028 HERC2P8 hect domain and RLD 2 pseudogene 8 9730612 440366 AC145350,NG_009637 pseudo 1351757 HERC3 hect domain and RLD 3 HERC3 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM] 1580863 15676274,12477932,11163799,10702688,7584028,7584026,18535780,20379614 8916 NM_014606,AC098582,AC108065,CH471057,AK289990,AK296379,AK296397,BC038960,D25215 BAA04945,NP_055421,AAY41038,EAX06024,BAF82679,BAG59053,BAG59064,AAH38960,Q15034,Q4W5H5,Q8IXX3,AAI66672 Hs.35804 KIAA0032 HECT domain and RCC1-like domain-containing protein 3|OTTHUMP00000197355|probable E3 ubiquitin-protein ligase HERC3 protein-coding 1322175 HERC4 hect domain and RLD 4 HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM] 737633,1580863 16385451,20379614,15676274,15489334,15164054,14702039,12477932,10997877,18535780 737633 26091 NM_015601,NM_022079,AC024258,AL133551,AL356741,CH471083,AB046813,AK021844,AK026808,AK027835,AK292809,AL096715,AY221963,AY650033,AY650032,AY650034,BC015043,BC018114,BC039465,BC039600,BX537563,CR591553,DB459623 CAH74146,CAH74148,NP_056416,NP_071362,CAI16031,CAI16032,EAW54260,EAW54261,EAW54262,EAW54263,EAW54264,EAW54265,EAW54266,BAB13419,BAF85498,CAB46371,AAV66578,AAV66579,AAV66580,AAH39600,Q5GLZ8,Q5VXS9,Q9Y4U2,AAO65480 Hs.51891 DKFZp564G092|KIAA1593 HECT domain and RCC1-like domain-containing protein 4|OTTHUMP00000217541|probable E3 ubiquitin-protein ligase HERC4 protein-coding 1346007 HERC5 hect domain and RLD 5 This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. 1580863 12477932,18535780,20308324,10581175,17471231,16884686,16815975,16407192,15676274,15331633,14702039,11752456,18057259 51191 AK301756,AK302142,NM_016323,AC083829,CH471057,AB027289,AK093155,AV657231,AY337518,BC140716 BAG63217,BAG63515,NP_057407,EAX06020,BAA88519,BAG52666,AAR00320,AAI40717,Q9UII4 Hs.26663 CEB1|CEBP1 E3 ISG15--protein ligase HERC5|HECT E3 ubiquitin ligase|HECT domain and RCC1-like domain-containing protein 5|OTTHUMP00000219488|cyclin-E binding protein 1|cyclin-E-binding protein 1|probable E3 ubiquitin-protein ligase HERC5 protein-coding 1348683 HERC6 hect domain and RLD 6 HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM] 1580863 15676274,15489334,14702039,12477932,9373149,8125298,18535780 55008 NM_017912,AC083829,CH471057,FJ695209,AF336798,AK000644,AK092403,AK097168,AK225506,AK295832,AL832670,AL833664,AY653201,AY653202,AY653203,BC035775,BC042047,BX647121,NM_001165136 Q8IVU3,CAI46056,NP_060382,EAX06018,EAX06019,AAQ14893,BAC03879,BAG53428,BAG58647,CAI46151,AAV66895,AAV66896,AAV66897,AAH35775,AAH42047,BAA91303,NP_001158608 Hs.529317 FLJ20637 HECT domain and RCC1-like domain-containing protein 6|potential ubiquitin ligase|probable E3 ubiquitin-protein ligase HERC6 protein-coding 733943 HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq] 704470,1580863 19447887,19788048,20031564,20054003,20147634,20694148,18656546,10708769,10922362,19251110,18307982,18042451,17420289,17020760,16940180,16713569,16289116,16189514,15489334,14550564,12477932,12370023,12153396,11799129,11112790,9373149,9110174,8619474,8125298,7584026,16169070,20838585,20936779 704470 9709 NM_001010989,NM_001010990,AB034990,AC012181,CH471092,AB034989,AF055001,AF055003,AF217990,AK223233,AK291565,AK292088,AK302167,NM_014685,AK304800,BC000086,BC008320,BC009739,BC032673,BG685245,BI520043,CD358537,CR457116,CR625367,D14695,DQ837586 NP_055500,NP_001010989,NP_001010990,BAB19010,EAW82892,EAW82893,EAW82894,BAB07891,AAC09355,AAC09357,AAG17233,BAD96953,BAF84254,BAF84777,BAG63534,BAG65550,AAH00086,AAH08320,AAH09739,AAH32673,CAG33397,BAA03521,ABI18163,Q15011,Q53FP9,Q9HBR2,ABM82793,ABW03443 Hs.146393 HERP|KIAA0025|Mif1|SUP MMS-inducible|homocysteine-inducible endoplasmic reticulum stress-inducible ubiquitin-like domain member 1 protein|homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein|methyl methanesulfonate (MMF)-inducible fragment protein 1 protein-coding 1605640 HERPUD2 HERPUD family member 2 19240061,16344560,15489334,14702039,12477932,17207965 64224 NM_022373,AC018647,CH236951,CH471073,AK025966,AK055708,AK315685,BC005091,BC020264,DA282706,DA778088 NP_071768,EAL23973,EAW94050,EAW94051,EAW94052,EAW94053,EAW94054,EAW94055,BAB15300,BAG51558,BAG38050,AAH05091,AAH20264,Q9BSE4,ADQ31762 Hs.727674 FLJ22313|FLJ31032 OTTHUMP00000158869|homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2|homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein protein-coding 1606632 HERV-FRD HERV-FRD provirus ancestral Env polyprotein Human endogenous retroviruses (HERVs) make up approximately 8% of the human genome. Although most HERVs are nonfunctional, the HERV-W (ERVWE1; MIM 604659) and HERV-FRD envelope (env) proteins can induce cell-cell fusion when expressed in cells possessing appropriate receptors (Blaise et al., 2003 [PubMed 14557543]).[supplied by OMIM] 18650494,18215254,18077339,16714059,16303743,16140326,15489334,14702039,14694139,14574404,14557543,12975309,12970426,12477932,16344560,19616006 405754 NM_207582,AL136139,CQ890942,AK075092,AK123938,AY358244,BC068585,DA863475 NP_997465,CAH68778,BAC11396,BAC85731,AAQ88611,AAH68585,P60508,Q8NC12,ACT64419,ACT64420 Hs.631996 FLJ41944|FLJ90611|GLLL6191|HERV-FRD|MGC87585|UNQ6191 HERV-FRD_6p24.1 provirus ancestral Env polyprotein|OTTHUMP00000214319|envelope polyprotein|syncytin 2|syncytin-2 protein-coding 1605434 HES1 hairy and enhancer of split 1, (Drosophila) This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq] 2302205 7906273,19453261,19321451,19118200,19116245,19058789,19039095,18821565,18719287,18599525,18550849,18524252,18491256,18274550,17822320,17388915,17301032,17072841,16894395,16365048,16322473,16253247,16214363,15563463,15536134,15492808,15156153,14722248,14702039,12972610,12535671,12477932,12406868,11756408,11748221,19891787,11486045,11238932,10851137,9745030,9389649,8687460,8020957,9874198,15546612,12065598,15467735,16160079,17681138,19322650,19603167,19724860,19808903,19861684,19880519,19935883,20022559,20091184,20515776,20832754 2302205 3280 NM_005524,AC080129,CH471052,L19314,AF264785,AK000415,AK300482,BC005178,BC039152,CR541843,CR609648,CR610974,CR616000 NP_005515,EAW78058,AAA65220,AAF73060,BAA91149,BAG62198,AAH05178,AAH39152,CAG46641,Q14469,Q8IXV0,Q9BS99,AAI56517,AAI72546,ABM82254,ABM84280,ABM87672 Hs.250666 FLJ20408|HES-1|HHL|HRY|bHLHb39 class B basic helix-loop-helix protein 39|hairy homolog|hairy-like protein|transcription factor HES-1 protein-coding 736308 HES2 hairy and enhancer of split 2 (Drosophila) 1580863 16710414,15489334,15254753,14702039,12477932,9570950,8889548 54626 NM_019089,AL031848,CH471130,AK023754,AK091122,BC012091,BC132698,BC136963,BC142687,BU729177 NP_061962,CAB46198,CAB46199,EAW71533,EAW71534,BAG52286,AAH12091,AAI32699,AAI36964,AAI42688,Q9Y543 Hs.118727 bHLHb40 class B basic helix-loop-helix protein 40|transcription factor HES-2 protein-coding 1604433 HES3 hairy and enhancer of split 3 (Drosophila) 18162467,16710414,15254753,15146197 390992 NM_001024598,AL031847,CH471130,CN413592,CX755241,CN370501 NP_001019769,CAI19439,EAW71525,Q5TGS1,AAI56116,AAI56913 Hs.532677 bHLHb43 class B basic helix-loop-helix protein 43|transcription factor HES-3 protein-coding 1354442 HES4 hairy and enhancer of split 4 (Drosophila) 1580863 16710414,15489334,15254753,12477932,11260262,8889548,20211142 57801 BC012351,BI757407,BM128269,BM713553,DB485006,HI574164,NM_021170,NM_001142467,AL645608,CH471183,AB048791 AAH12351,Q9HCC6,ABM86416,CBX47571,NP_066993,NP_001135939,CAI15572,EAW56296,BAB13510 Hs.154029 bHLHb42 OTTHUMP00000221118|bHLH factor Hes4|class B basic helix-loop-helix protein 42|hHES4|transcription factor HES-4 protein-coding 1353774 HES5 hairy and enhancer of split 5 (Drosophila) This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq] 2302205 12477932,16365048,16214363,18524252,18354251,17388915,17093926,17072841,16710414,15254753,15156153,20091184 2302205 388585 NM_001010926,AL139246,CH471183,BC087840,BX104111,DQ272660 NP_001010926,EAW56096,AAH87840,ABB83829,Q5M8T3,Q5TA89,CAX30820 Hs.57971 bHLHb38 class B basic helix-loop-helix protein 38|transcription factor HES-5 protein-coding 1323828 HES6 hairy and enhancer of split 6 (Drosophila) This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 19891787,10851137,19058789,18160400,17826772,17301032,17300753,17213182,15896295,15815621,15489334,14702039,12972610,12957362,12477932,11551980,11044617,19481584 55502 NM_018645,NM_001142853,AC016757,CH471063,CS061206,AB035179,AF260237,AK075040,AK293111,BC007939,CR610232,DT217800 NP_061115,NP_001136325,AAY24337,EAW71149,EAW71150,EAW71151,EAW71152,CAI79369,BAA96082,AAK51634,BAC11368,BAF85800,AAH07939,Q96HZ4 Hs.42949 HES-6|bHLHb41|bHLHc23 C-HAIRY1|OTTHUMP00000202611|OTTHUMP00000202612|OTTHUMP00000202613|class B basic helix-loop-helix protein 41|transcription cofactor HES-6 protein-coding 1314231 HES7 hairy and enhancer of split 7 (Drosophila) In mouse, Hes7 expression is associated with somitogenesis and is controlled by Notch (see MIM 190198) signaling (Bessho et al., 2001 [PubMed 11260262]).[supplied by OMIM] 2302205,1580863 11260262,18775957,17081983,19423540,20406964,20438785,19913121,20087400,20628086 2302205 84667 NM_032580,AC129492,CH471108,AB049064,BC039887,BU620502,CA432402,BI259590,NG_015816,NM_001165967 NP_115969,EAW90092,BAB39525,Q9BYE0,AAI56908,NP_001159439 Hs.434828 SCDO4|bHLHb37 bHLH factor Hes7|class B basic helix-loop-helix protein 37|hHes7|transcription factor HES-7 protein-coding 1353119 HESX1 HESX homeobox 1 This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq] 1601424,1580863 16940453,16424673,15489334,14714741,14646405,14561704,14557462,12519827,12477932,12424431,12063185,11748154,11731482,11283314,11136712,9373136,8696006,7876132,17148560,20181723,17587179,9620767,18728160,17931718,19561080,20534763 1601424 8820 NM_003865,NG_008242,AC093928,AF059734,CH471055,U65437,AI652412,BC069515,BC093979,BC112089 NP_003856,AAC24523,EAW65333,EAW65334,AAB39561,AAH69515,AAH93979,AAI12090,Q9UBX0,ABZ92199 Hs.171980 ANF|CPHD5|MGC138294|RPX OTTHUMP00000213130|OTTHUMP00000213131|Rathke pouch homeobox|hAnf|homeo box (expressed in es cells) 1|homeobox expressed in ES cells 1|homeobox protein ANF|homeobox, ES cell expressed 1 protein-coding 1352150 HEXA hexosaminidase A (alpha polypeptide) This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq] 1580863 16169070,17474147,6230359,19298806,18490185,18425478,18217416,16776631,16710745,16698036,16212960,16088929,15953731,15489334,15345116,15342556,14727180,14648242,14566483,12477932,12413610,12180151,11180612,11170098,10571007,9603435,9401008,9375850,9373149,9338583,9272736,9222766,9217013,9150157,9090523,8757036,8673609,8663217,8652542,8634145,8581357,8490625,8445615,8328470,8125298,7951261,7902672,7898712,7887427,7837766,7717398,3754980,3375249,3362213,3013851,2973311,2971395,2970528,2965147,2964446,2952641,2933746,2848800,2837213,2531748,2522679,2522660,2278539,2220821,2144098,2141777,2140574,2137287,1996872,1837283,1833974,1832817,1830584,1829032,1827945,1825792,1825014,1533633,1532289,1483696,1384323,1318511,1307230,1302612,1301938,1301190,1301189,1054503,808963,19858779,19876898 3073 NG_009017,AC009690,CH471082,M16411,M16424,S62076,AK222502,AK296528,AK297678,AK301000,AK301138,AK307770,AK310154,BC001138,BC018927,BC021030,BC034424,BC084537,BP356349,BX537989,CR591651,CR594225,CR598860,CR599467,CR599909,CR600893,CR603314,CR612015,CR616042,CR616988,CR622279,CR622531,CR622580,CR622636,CR623191,CR625480,CR625539,CR626315,CR627386,NM_000520,DC356933,S61298,S76980,M13520 NP_000511,EAW77902,AAB00965,AAD13932,BAD96222,BAG59159,BAG60039,BAG62619,BAG62730,AAH01138,AAH18927,AAH21030,AAH84537,CAH10482,AAA51827,AAD13927,AAB33748,P06865,Q16017,Q6PJ76,Q9BVJ8,ABM83622,ABW03529 Hs.604479,Hs.709495 MGC99608|TSD N-acetyl-beta-glucosaminidase subunit alpha|beta-N-acetylhexosaminidase subunit alpha|beta-hexosaminidase subunit alpha|hexosaminidase subunit A protein-coding 1316898 HEXB hexosaminidase B (beta polypeptide) Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). [provided by RefSeq] 1599422,1599424,1580863 19913121,20628086,8663217,6230359,19278737,18930675,18758829,18588514,18552385,18217416,18204279,18180457,17251047,16710745,16352452,15953731,15489334,15485660,15459180,14702039,12754519,12706724,12662933,12477932,12413610,2579389,2525487,2522450,2170400,2147427,2147027,2139028,1967020,1825792,1720305,1531140,1487253,1386607,1054503,11447134,10982028,10591618,10571007,9888387,9856491,9694901,9401004,8950198,8673609,8634145,8357844,8106452,8045559,7633435,7626071,7557963,7299841,7177110,6959123,3013851,2977375,2971395,2971039,2966076,2965147,2964638,2948136,2921040,19615986,20800603 1599422,1599424 3074 NG_009770,AC026405,AC093214,CH471084,M23282,M23294,AF378118,AK122992,AK130002,AK130375,AY643499,BC017378,BE907813,NM_000521,BT009919,CR591164,CR593680,CR594662,CR595990,CR596988,CR598936,CR601804,CR601840,CR602387,CR602879,CR605235,CR605256,CR605813,CR605818,CR605885,CR606849,CR606930,CR608425,CR609405,CR610802,CR611028,CR611913,CR612759,CR613188,CR613644,CR614304,CR615381,CR618468,CR620268,CR622691,CR624261,CR624982,CR625484,CR626531,CR626674,CR626778,M13519,M19735,M34906 NP_000512,EAW95741,EAW95742,AAA52645,AAM46114,AAV48875,AAH17378,AAP88921,AAA51828,AAA68620,AAA51829,P07686,Q5URX0 Hs.69293 ENC-1AS HCC-7|N-acetyl-beta-glucosaminidase subunit beta|OTTHUMP00000222053|beta-N-acetylhexosaminidase subunit beta|beta-hexosaminidase subunit beta|cervical cancer proto-oncogene 7 protein|hexosaminidase subunit B protein-coding 1602417 HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 19040401,16169070,12477932 284004 NM_173620,AC132938,CH471099,AK074405,AK295197,AK316085,BC018205,BC035561,CR607308,DN999062,FM204887 NP_775891,EAW89771,EAW89772,EAW89773,EAW89774,EAW89775,BAB85072,BAH12009,BAH14456,AAH18205,AAH35561,CAR57925,Q8WVB3 Hs.444743 FLJ23825 N-acetyl-beta-galactosaminidase|beta-N-acetylhexosaminidase|beta-hexosaminidase D|hexosaminidase D|hexosaminidase domain-containing protein protein-coding 1606576 HEXIM1 hexamethylene bis-acetamide inducible 1 Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq] 20453883,20029029,20808803,14580347,15713661,15941832,12581153,18801933,18757415,18407829,18371977,17937499,17724342,17709395,16382153,16362050,16222702,15994294,15992410,15965233,15940264,15855166,15713662,15201869,15169877,15109492,14702039,12832472,12477932,12119119,10737800,16980611,17643375,18029348,18039861,19430483,19617712,19883659,20201073,20210365 10614 NM_006460,AC142472,AB021179,AI092623,AK023624,AK313557,AL521530,AL562001,AW881781,BC006460,BQ777682,BX111838,CA448958,CA946973,CR614564,CR617663,CV810471,DB539383 NP_006451,BAA36166,BAG51211,BAG36332,AAH06460,O94992,ABM84198,ABM87157,ABM87602 Hs.15299,Hs.586945,Hs.634944 CLP1|EDG1|FLJ13562|HIS1|MAQ1 HMBA-inducible|cardiac lineage protein 1|estrogen down-regulated gene 1 protein|hexamethylene bis-acetamide-inducible protein 1|hexamethylene bisacetamide-inducible protein|hexamethylene-bis-acetamide-inducible transcript 1|hexamthylene bis-acetamide inducible 1|menage a quatre 1|menage a quatre protein 1|protein HEXIM1 protein-coding 1601726 HEXIM2 hexamthylene bis-acetamide inducible 2 18029348,15994294,17643375,19430483,19883659,15713662,15713661,15965233,15334068,15302935,14702039,12832472,12477932,15992410,17207965 124790 NM_144608,AC138150,CH471178,AK056946,AY598322,BC003531,BC012474,BC025970 Q96MH2,NP_653209,EAW51541,EAW51542,BAB71319,AAT06733,AAH03531,AAH12474,AAH25970,ADQ32160 Hs.56382 FLJ32384|L3 MAQ1 paralog|hexamethylene bis-acetamide-inducible protein 2|hexamethylene-bis-acetamide-inducible transcript 2|protein HEXIM2 protein-coding 735762 HEY1 hairy/enhancer-of-split related with YRPW motif 1 This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,2302205,1334460 11585921,15231748,16043483,19802006,19917614,19857617,10415358,19453261,19369342,18986983,18363832,18239137,17496152,17028039,16344560,16165016,15749835,15684393,15680351,15489334,15342556,15314183,14702039,12548545,12477932,12453432,11486044,11095750,10964718,10860664,10692439,10403790,9373149,8125298,11279181 2302205,1334460 23462 NM_001040708,NM_012258,AC016240,AJ277506,CH471068,AF151522,AF176422,AF232239,AF254637,AF311883,AJ272214,AK074641,AK092437,AK226041,AK313271,BC001873,BP283540,BT020065,CR598609,CR607416,CR622924,DA561783 NP_001035798,NP_036390,CAB90212,EAW87066,AAD38967,AAD51749,AAF37297,AAL06278,AAG31156,CAB75715,BAG51980,BAC03890,BAG36080,AAH01873,AAV38868,Q8NAM2,Q96PR6,Q9Y5J3 Hs.234434 BHLHb31|CHF2|HERP2|HESR1|HRT-1|MGC1274|OAF1 HES-related repressor protein 1|HES-related repressor protein 2|basic helix-loop-helix protein OAF1|cardiovascular helix-loop-helix factor 2|class B basic helix-loop-helix protein 31|hHRT1|hairy and enhancer of split-related protein 1|hairy-related transcription factor 1|hairy/enhancer-of-split related with YRPW motif protein 1 protein-coding 1354369 HEY2 hairy/enhancer-of-split related with YRPW motif 2 This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq] 2302205,1580863 16043483,16189514,16165016,16151017,15680351,15643620,15489334,15389319,14574404,12548545,12535671,12477932,11486045,11486044,11095750,10924525,10860664,10710309,10692439,10415358,18266235,18239137,16329098,16293227 2302205 23493 NM_012259,AL078594,CH471051,AB044755,AF173901,AF232238,AF237949,AF311884,AJ249545,AK289943,AK303890,BC007707,BI549391,BT020067,BT020068,CR596074 NP_036391,CAB87581,CAI20068,EAW48135,BAA96781,AAF20173,AAF37296,AAF44781,AAG31157,CAB56839,BAF82632,BAG64825,AAH07707,AAV38870,AAV38871,Q5TF93,Q9UBP5 Hs.144287 CHF1|GRIDLOCK|GRL|HERP1|HESR2|HRT2|MGC10720|bHLHb32 HES-related repressor protein 1|HES-related repressor protein 2|HESR-2|HRT-2|OTTHUMP00000017139|cardiovascular basic helix-loop-helix factor 1|cardiovascular helix-loop-helix factor 1|class B basic helix-loop-helix protein 32|hCHF1|hHRT2|hairy and enhancer of split-related protein 2|hairy-related transcription factor 2|hairy/enhancer-of-split related with YRPW motif protein 2|protein gridlock homolog protein-coding 1312805 HEYL hairy/enhancer-of-split related with YRPW motif-like This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq] 1580863,2302205 10415358,16189514,16165016,15231748,12548545,12477932,11095750,10924525,10860664,8889548 2302205 26508 NM_014571,AL035404,CH471059,AF311885,AJ272215,AK300463,AL541019,BC006087,BM682076 NP_055386,CAI19572,EAX07260,AAG31158,CAB75716,BAG62182,AAH06087,Q9NQ87,ABZ92400 Hs.472566 HEY3|HRT3|MGC12623|bHLHb33 HEY-like protein|HRT-3|class B basic helix-loop-helix protein 33|hHRT3|hHeyL|hairy-related transcription factor 3|hairy/enhancer-of-split related with YRPW motif 3|hairy/enhancer-of-split related with YRPW motif-like protein protein-coding 1345296 HFE hemochromatosis The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq] 1601449,1601452,1601460,1580863,1582673,1358657,1582684,1582695,1582697,1582671,1582685,1582687,1582672 19913121,20485444,20555268,20560808,20563578,20575041,20583211,20586792,20587610,20594259,20607553,20628086,20640879,20642366,20642794,20659343,20669231,20673159,20714725,20722701,20739079,20800508,20813792,20814896,20817350,19706067,19759876,20858683,20927387,20950210,20954257,20957336,20974500,21039223,21067572,10638746,10085150,19433916,19429178,19422651,19420105,19384175,19359997,19291797,19271219,19267193,19264516,19258483,19254567,19237423,19228389,19222337,19165391,19159930,19115475,19084217,19074885,19059216,19030706,19018338,19008010,19002551,19001803,18987350,18848943,18846434,18842428,18820912,18810584,18809758,18795173,18762941,18705322,18689356,18683048,18676680,18675463,18665827,18657084,18633618,18593631,18566337,18565609,18565178,18542962,18525129,18524764,18521456,18500222,18470614,18462792,18460494,18452683,18429050,18419350,18403938,18395717,18363869,18353247,18327584,18325820,18317757,18300942,18289891,18284459,18276042,18273820,18263976,18201677,18199861,18194242,18182079,18164971,18079565,18073584,18061976,18061182,18054440,18042412,18036208,18025780,18005180,17976429,17973580,17959863,17956864,17949288,17924859,17916170,17895769,17878720,17847004,17828789,17767550,17729389,17724144,17722428,17718867,17710673,17687449,17680648,17661915,17661761,17654685,17650303,17637512,17628213,17626021,17598005,17597476,17589946,17585191,17573946,17565641,17543888,17525682,17474269,17420932,17410459,17401564,17389307,17362299,17313717,17308297,17303462,17299255,17298224,17297430,17284543,17279416,17240320,17235517,17228846,17212677,17210810,17194693,17160266,17160239,17145987,17137171,17135308,17116317,17108759,17107905,17101320,17079357,17067586,17065702,17062032,17061732,17058523,17056630,17047092,17042772,17013646,17011669,17006922,17003003,17001480,16990695,16979952,16968463,16964543,16950433,16936157,16935420,16893896,16878186,16849282,16847405,16841247,16838333,16824219,16806233,16802538,12198660,12190182,12180078,12148086,12145797,12140659,12117686,12098643,12085358,12077102,12064915,12059121,12045778,12036461,12010659,12003382,12002748,11960577,11960574,11953685,11943417,11940510,11939483,11938026,11929045,11904676,11903355,11903354,11901060,11887210,11886966,11886425,11875012,11874997,11869934,11857056,11855561,11840200,11836162,11812557,11809727,11804665,11800564,11788568,11783942,11781701,11774187,11763282,11738096,11730630,11722599,11700156,11686223,11680538,11673657,11579943,11564085,11545759,11529872,11500066,11500061,11499833,11495086,11488107,11479183,11478530,11474212,11469076,11454185,11446670,11445256,11436126,11423500,11399207,11394651,11386022,11380589,11358905,11358395,11358357,11332643,11325323,11260010,11257277,11242801,11199371,11168438,11159767,11151887,11114141,11108765,11096344,11079015,11069625,11057879,11051367,11040018,11027676,11018711,11001625,10791995,10612845,10575540,10431233,10401000,10381492,10194428,10094552,10079302,9869618,9620340,9585606,9548560,9546397,9465039,9462220,9439654,9425935,9371823,9356458,9341868,9326341,9321765,9211748,9162021,9149941,9138148,9122230,9106528,9024376,8896550,8696333,16802007,16755236,16728543,16678024,16672055,16649670,16638105,16615226,16615007,16584391,16583477,16537242,16520984,16503999,16468045,16454835,16451136,16433696,16414021,16399493,16393683,16364490,16337066,16324464,16315134,16314188,16306377,16285477,16273299,16225403,16222171,16216474,16210711,16186539,16178952,16174659,16174459,16157826,16140024,16138214,16123136,16113552,16113534,16105133,16103673,16102632,16055358,16047841,16043695,16039334,16012706,16011012,16003728,15995871,15991291,15990686,15965644,15956653,15955425,15941956,15941661,15929798,15929796,15914210,15894659,15894495,15885363,15880641,15863667,15863206,15858186,15840699,15834437,15817857,15815212,15802547,15789881,15785438,15780041,15777346,15775751,15763983,15740492,15727249,15710569,15698609,15684872,15673318,15668853,15668490,15654232,15643457,15642540,15637751,15610558,15607698,15581829,15570296,15566515,15546588,15538648,15531451,15528154,15517265,15503019,15498100,15489334,15483651,15477198,15467009,15447900,15389541,15388046,15377292,15363617,15352740,15347835,15338274,15319650,15304122,15304010,15302000,15293136,15287851,15280838,15273174,15266614,15259508,15223008,15222129,15182337,15175819,19214511,15151632,15141324,15136693,15121519,15101996,15099342,15075083,15070663,15061375,15060098,15056661,15044462,15042317,15025725,15018631,15017669,15017658,15013567,14996353,14973098,14972004,14966054,14765621,14759258,14752836,14742317,14740507,14729817,14706682,14703689,14703688,14675248,14673107,14671617,14671616,14670915,14667749,14648375,14642607,14641999,14636644,14635204,14633868,14618419,14557859,14503989,14499790,12972035,12972032,12961032,12952143,12948285,12942784,12940442,12923017,12915468,12907432,12902032,12885340,12874382,12870733,12865759,12865278,12851225,12850493,12850485,12846904,12792703,12791037,12783844,12779071,12770794,12763366,12746412,12745279,12737949,12714823,12714263,12714262,12712916,12707938,12707220,12699243,12691865,12681966,12673276,12673077,12667993,12667138,12662406,12656741,12651261,12635863,12624489,12622622,12614226,12601293,12591066,12589228,12586300,12584430,12568299,12557137,12547216,12542741,12542499,12537659,12529348,12514663,12512743,12508966,12508400,12505233,12482402,12477932,12464008,12446481,12445428,12445415,12445172,12436244,12429850,12427496,12406023,12394323,12384978,12380399,12377814,12364722,12361551,12241803,12241015,12207823,3460331,2307464,1517564,896549,678784,20805500,20027482,20670400,21149283,20618438,20007136,19853236,19170196,19375516,19380292,19481774,19487139,19500086,19515364,19541813,19554541,19602897,19625176,19640812,19656448,19673882,19681031,19692168,19711434,19715939,19731820,19732172,19734422,19747287,19787796,19799358,19806355,19819738,19820015,19820697,19820698,19820699,19822954,19852572,19862010,19874572,19876870,19879168,19884647,19893773,19931264,19948245,19958990,19960042,20008199,20019189,20029940,20031541,20031565,20060900,20073670,20084012,20097100,20099304,20101754,20107990,20117027,20145272,20160468,20164577,20178892,20190684,20193033,20194081,20196837,20199637,20208481,20216079,20218273,20337854,20345568,20400082,20424537,20437058,20447705,20464957,20478760,20503453,20675164 1601449,1601452,1601460,1582673,1358657,1582684,1582695,1582697,1582671,1582685,1582687,1582672 3077 AJ298840,AJ404378,AK293393,AK300933,AK316502,AY205604,BC074721,BC117201,BC117203,U60319,NM_139004,NM_139003,NM_139009,NM_139007,NM_139008,NM_139010,NM_139011,NM_139006,NG_001335,NG_008720,AF184234,AF204869,AF331065,AF525359,AF525499,CH471087,CS187189,EU523119,U80914,U91328,Y09801,Z92910,AF079407,AF079408,AF079409,AF109385,AF115264,AF115265,AF144238,AF144239,AF144240,AF144241,AF144242,AF144243,AF144244,AF144245,AF147392,AF149804,AF150664,AJ249335,AJ249336,AJ249337,AJ249338,AJ250635,AJ298839,NM_000410 BAG56902,BAG62562,BAH14873,AAO47091,AAH74721,AAI17202,AAI17204,AAC51823,Q30201,Q6B0J5,Q86WL1,Q8MH46,Q96KU6,Q9BXI5,Q9HC63,Q9HC65,Q9HC66,Q9HC67,Q9HC69,Q9HC71,Q9HC72,Q9TQ79,Q9UK37,Q9UM46,NP_000401,NP_620573,NP_620572,NP_620578,NP_620576,NP_620577,NP_620579,NP_620580,NP_620575,AAF01222,AAK16502,AAM82608,AAM91950,EAW55516,EAW55517,EAW55518,EAW55519,EAW55520,EAW55521,EAW55522,EAW55523,EAW55524,EAW55525,EAW55526,EAW55527,CAJ42862,ACB21042,AAD00449,AAB82083,CAA70934,CAB07442,AAC62646,AAC62647,AAC62648,AAD52104,AAG29571,AAG29572,AAG29573,AAG29574,AAG29575,AAG29576,AAG29577,AAG29578,AAG29579,AAG29580,AAG29342,AAG29343,CAC67792,CAC67793,CAC67794,CAC67795,CAC80805,ADR82951 Hs.233325 HFE1|HH|HLA-H|MGC103790|MVCD7|dJ221C16.10.1 MHC class I-like protein HFE|OTTHUMP00000215792|OTTHUMP00000215816|OTTHUMP00000215817|OTTHUMP00000215818|hereditary hemochromatosis protein|hereditary hemochromatosis protein HLA-H|high Fe 2301165 PRSTS379_H protein-coding 1320952 HFE2 hemochromatosis type 2 (juvenile) The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq] 1599478 20704562,17207965,20593054,21039223,20530805,20549515,20587610,19252486,19214511,19029439,18827264,18762941,18725184,18445598,18421430,18335997,18326817,18287331,17938254,17869549,17847004,17768121,17339196,17264300,16932966,16344560,16103673,16103117,15998830,15710580,15685557,15611318,15610558,15590393,15489334,15461631,15315789,15254010,15194541,15138164,14982873,14982867,14702039,14647275,12477932,10205270,9465039,9373149,8125298,19287179,19564337,19787796,19847924,20937842 1599478 148738 CS573001,CS607654,GN062681,GN081991,AL355505,NM_213653,NM_145277,NM_202004,NM_213652,NG_011568,AL138842,CH471244,DQ309445,AA479148,AK092682,AK092692,AK096905,AK124273,AK223575,AK290831,AK292742,AK315852,AY372521,BC017926,BC085604,CR616174,DB035674 ADQ32250,CAN86494,CAO00462,CAX62674,CAX86829,NP_998818,NP_660320,NP_973733,NP_998817,CAI22349,CAI22350,CAI22091,CAI22092,EAW71407,EAW71408,EAW71409,ABC40718,BAC03944,BAC03947,BAC04890,BAC85823,BAF83520,BAF85431,BAF98743,AAR22390,AAH17926,AAH85604,Q6ZVN8 Hs.632436 HFE2A|HJV|JH|MGC23953|RGMC OTTHUMP00000218197|RGM domain family member C|haemojuvelin|hemochromatosis type 2 protein|hemojuvelin|repulsive guidance molecule c protein-coding 1606438 HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 17286053,14702039,12477932,20800603,20379614 164045 NM_001017975,AC098691,BX323048,CH471097,AB074274,AB204867,AK094079,AK096330,AK294754,AK302582,BC062793,BC130525,BC132823,BC144172,BC144198,BX649037,DT932601,AB044787,AB044788,AB058636,AB058637 NP_001017975,CAO03501,EAW73116,BAF45466,BAC04281,BAG53262,BAG57893,BAG63837,AAI44173,AAI44199,A2PYH4,BAI63262,BAI63263,BAI63264,BAI63265 Hs.454818 FLJ36760|FLJ39011|MER3|MGC163397|RP11-539G11.1|SEC63D1|Si-11|Si-11-6|helicase SEC63 domain containing 1|SEC63 domain-containing protein 1|helicase-like protein HFM1|probable ATP-dependent DNA helicase HFM1 protein-coding 1318713 HGD homogentisate 1,2-dioxygenase (homogentisate oxidase) Homogentisate 1,2-dioxygenase (HGD) gene mutations are the molecular cause of alkaptonuria, a rare hereditary disorder of the phenylalanine catabolism. The highest expression of HGD is in the prostate, small intestine, colon, and liver. The HGD gene contains 14 exons. Conflicting reports have placed the gene at 3q2, 3q13.3-q21, 3q21-q24, 3q21-q23, or 3q25-q26. [provided by RefSeq] 1580863,1599472 19862842,20201926,20301627,20462779,8782815,18945288,16344560,16085442,15489334,14702039,12872836,12477932,11181995,10876237,10594001,10482952,10340975,10205262,9674916,9630082,9529363,9244427,9154114,9069115,8581831,8252048,8188241,17207965 1599472 3081 AA861603,DB231845,BC071757,DA872983,U63008,Z75048,NM_000187,NG_011957,AADB02004670,AC009289,AC126182,AC133474,AF000573,CH471052,AF045167,AK124291,AK290782,AK313563,BC020792 AAH20792,AAH71757,AAB16836,CAA99340,Q8WW71,Q93099,ACE87203,ACE86524,NP_000178,AAC51650,EAW79522,EAW79523,EAW79524,AAC02698,BAG54026,BAF83471,BAG36337,ADQ32072 Hs.368254 AKU|FLJ94126|HGO homogentisate 1,2-dioxygenase|homogentisate oxidase|homogentisate oxygenase|homogentisic acid oxidase|homogentisicase protein-coding 70837 HGF hepatocyte growth factor (hepapoietin A; scatter factor) Hepatocyte growth factor regulates cell growth, cell motility, and morphogenesis by activating a tyrosine kinase signaling cascade after binding to the proto-oncogenic c-Met receptor. Hepatocyte growth factor is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. Its ability to stimulate mitogenesis, cell motility, and matrix invasion gives it a central role in angiogenesis, tumorogenesis, and tissue regeneration. It is secreted as a single inactive polypeptide and is cleaved by serine proteases into a 69-kDa alpha-chain and 34-kDa beta-chain. A disulfide bond between the alpha and beta chains produces the active, heterodimeric molecule. The protein belongs to the plasminogen subfamily of S1 peptidases but has no detectable protease activity. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. [provided by RefSeq] 1642702,1642762,1642064,1642706,1642704,2313565,2313566,2313567,2313568,2313569,2313570,2299174,2313573,1580863,704404,2317904,2317903,2317899,2317909,2317925,2317895 14512973,17520376,18024311,18504429,18979225,19281453,19423096,19423540,19468262,19508152,19515220,19525225,19526316,19533745,19542190,19553700,19615360,19625133,19628037,19661216,19661350,19692652,19713535,19720831,19749787,19797611,19817696,19858036,19888551,19956874,20005573,20007454,20015050,20019837,20061986,20066125,20122738,20129249,20203323,20406964,20424473,20438785,20200025,20852387,20930612,1321034,14704632,14699503,14697967,14694016,14688531,14672920,14647442,14626426,14555767,14524531,14519655,14500721,12932865,12918110,12883672,12879228,12875981,12865405,12853948,12847110,12837293,12837287,12821940,12817761,12812389,12792760,12757411,12732844,12713878,12707786,12695295,12694198,12690205,12682635,12645668,12619035,12524084,12493396,12482615,12477932,12456016,12419930,12413766,12393863,12379223,12374695,12372819,12368906,12244174,12233882,12209727,12168776,12163032,12151314,12151078,12124772,12051906,11999653,11994287,11943656,11929792,11928807,11909963,11867177,11839685,11836782,11830493,11821397,11799124,11781826,11597998,11342433,10962009,10871856,10848592,10725250,10421795,9886295,9817840,9493272,9352114,9314600,8994391,8898205,8889548,8662798,8631970,8603858,8288571,8175137,8157651,8041760,7822318,7608139,7593211,7489981,7487981,3276728,2528952,2524251,2145836,1838014,1837534,1837206,1835383,1832556,1831432,1831266,1826837,1826653,1824873,1720571,1655405,1535333,1531136,1482348,1386343,1334458,1328193,2531289,15167892,18585357,14679171,14517989,19576567,19521120,19478261,19471602,19470725,19426716,19416273,19389925,19386985,19321255,19318497,19281086,19249525,19230022,19223316,19223201,19188684,19184985,19154948,19127344,19118941,19114710,19060265,19050584,19047046,19023030,19021204,19021063,19020737,19020551,19010854,18992144,18973760,18956268,18844210,18813782,18812567,18789327,18787186,18774952,18691255,18628208,18569024,18564920,18539758,18501120,18495663,18491380,18424072,18422749,18326526,18319552,18291418,18274928,18264938,18251163,18234969,18164961,18096875,18091351,18065658,18063891,18059365,18053801,18021988,16723436,16709855,16709175,16684952,16677802,16651617,16648972,16627020,16621453,16505200,16498238,16469801,16403414,16338307,16303761,16279944,16278380,16246197,16216128,16144920,16136515,16102116,16083876,16052207,16039997,16019534,16014626,16006475,16000876,15913806,15880501,15875782,15824471,15792801,15781227,15777839,15770726,15760460,15717924,15678502,15659325,15637066,15613483,15608673,15602080,15590419,15550554,15537870,15528455,15525877,15505094,15504940,15504551,15502712,15492846,15489334,15474099,15359093,15334679,15292253,15287857,15250830,15241561,15240510,15239259,15229174,15226629,15203188,15192042,15191880,15172968,15160305,15156160,15153617,15127882,15120936,15112327,15087580,15064106,15059978,15019814,14989981,14983012,14764801,18004740,18003605,17992475,17981731,17973092,17971014,17967179,17942284,17921114,17911637,17907155,17901400,17876341,17872495,17765959,17702746,17626784,17625596,17625116,17599773,17597814,17593080,17518673,17464544,17452892,17435158,17384084,17372204,17322284,17307814,17262819,17244893,17215249,17203235,17178341,17154373,17143015,17099727,17062664,16951184,16902162,16885407,16861928,16859527,16849525,16807517,16790083,16740060,16728464,20534479,19939200,19961885,20699604,20568106,20584902,20728428,1280830,16554660,8380735,15695515,15161915,19959938,20200161,19913121,20178463,20628086,19563076,20150826,20372801,20580899,20021260,20483455,20819770,20937841,20519660,20977675,17981115,20131016,20177149,20185166,20533298 1642702,1642762,1642064,1642706,1642704,2313565,2313566,2313567,2313568,2313569,2313570,2299174,2313573,2317904,2317903,2317899,2317909,2317925,2317895 3082 FJ830861,FJ830862,NG_016274,M77227,U46010,X16323,X57574,NM_000601,NM_001010932,NM_001010931,NM_001010933,NM_001010934,AC004960,AY246560,CH236949,CH471091,D90334,M75971,M75983,M75984,AB208900,AK291674,AK313694,BC022308,BC063485,BC105797,BC130284,BC130286,BM153501,BM971901,BU533235,CR593759,CR600867,L02931,M29145,M55379,M60718,M73239,M73240 ACX45437,ACX45438,AAA35980,AAC50539,CAA34387,CAA40802,P14210,Q59H59,NP_000592,NP_001010932,NP_001010931,NP_001010933,NP_001010934,AAC71655,AAO61091,EAL24189,EAW76992,EAW76993,BAA14348,AAG53459,AAG53460,BAD92137,BAF84363,AAH22308,AAH63485,AAI05798,AAI30285,AAI30287,AAA52649,AAA52650,AAA52648,AAA64239,AAA64297,ADR83265 Hs.396530 DFNB39|F-TCF|HGFB|HPTA|SF OTTHUMP00000206710|OTTHUMP00000206730|fibroblast-derived tumor cytotoxic factor|hepatocyte growth factor|hepatopoeitin-A|lung fibroblast-derived mitogen protein-coding 1350664 HGFAC HGF activator The protein encoded by this gene belongs to peptidase family S1. It is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. [provided by RefSeq] 1580863 15713485,7683665,8226803,14718574,18691255,18422749,18221492,16335952,16189274,15340161,15172968,12477932,11201608,11013244,9874200,9346890,9045658,8631970,1838014,1368819,19456860,20424473 3083 NM_001528,AL590235,CH471131,D50030,Z69923,AK314099,BC112190,BC112192,CR626692,D14012 NP_001519,CAM21456,EAW82464,BAA74450,AAI12191,AAI12193,BAA03113,Q04756 Hs.104 HGFA|MGC138395|MGC138397 OTTHUMP00000217082|hepatocyte growth factor activator protein-coding 1350126 HGPPS horizontal gaze palsy with progressive scoliosis 12177379 338404 733649 HGS hepatocyte growth factor-regulated tyrosine kinase substrate 1580863 17138565,17014699,16832584,16713569,16707569,16516194,16462748,16448788,16429130,16352611,16212419,16189514,15944737,15828871,15772161,15592455,15509564,15489334,15240819,15212941,15113837,12953068,12900395,12847087,12802020,12554698,12551915,12477932,12444101,12230472,12151521,12021262,11916981,11687594,11532964,11397816,11285248,11110793,11094085,10970851,10825299,10809762,10514494,9630564,8380735,18508924,19019082,12207904,15218037,17101784,18029348,12900394,14702039,15071556,19624486,19874558,20159979,20224683,20420830,20505072,11984006,10861283,12444102,9407053,15611048,12218189,15962011,18767904,18675823,18445679,18362181,17804729,17675298,17624298,17545595,17445799,17320394,17182674,19158374,14519844,16716190,16735510,16771824,20936779,20463881 9146 AI365104,AK021483,AK097197,DR001213,AC139530,CH471099,AF260566,AK294190,AK303800,BC003565,BT009754,D84064,U43895,NM_004712 O14964,ABM83477,ABM86688,NP_004703,EAW89675,EAW89676,EAW89677,EAW89678,EAW89679,AAF82361,BAG57506,BAG64754,AAH03565,AAP88756,BAA23366,AAC51929 Hs.514590,Hs.661056 FLJ11421|FLJ39878|HRS|Vps27|ZFYVE8 hepatocyte growth factor-regulated tyrosine kinase substrate|hgf-regulated tyrosine kinase substrate|human growth factor-regulated tyrosine kinase substrate|protein pp110 protein-coding 1606456 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq] 18518886,17397050,17033958,16960811,16421571,20650889,16303743,15591281,14702039,12477932,16344560,20583299,19479962,19823584 138050 NM_152419,NG_009552,AC113191,AK025895,AK057293,AK074839,AK304441,AK308922,AL355714,AL832870,BC012452,BC042037,BC050672,BC056149,BE327420,CR457352,CR602692,CR749838,DA395558,DB128369 NP_689632,BAB15273,BAB71412,BAG65262,AAH12452,AAH42037,CAG33633,CAH18694,Q68CP4,Q6IA03,Q8IVU6,Q96ED6,Q96M97,Q9H6I6 Hs.600384 DKFZp686G24175|FLJ22242|FLJ32731|HGNAT|MPS3C|TMEM76 heparan-alpha-glucosaminide N-acetyltransferase|transmembrane protein 76 protein-coding 1351064 HHAT hedgehog acyltransferase 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM] 16710414,16344560,15489334,14702039,12477932,11486055,11160356,20379614 55733 NM_018194,NM_001122834,AC096636,AL034351,AL035414,AL590653,AL691441,BX255872,CH471100,AK001586,AK092186,AL049848,BC039071,BC051191,BC117130,CR936628,DA336461,DB077466,AK295130,AK297193,AK298991,AK299200,AK302955,AK316190,AK316524,DB080645,NM_001170564,NM_001170580,NM_001170587,NM_001170588 NP_060664,NP_001116306,CAI23102,CAI23103,CAI23104,CAI22284,CAH70522,CAH70523,CAI17038,CAI17039,EAW93426,EAW93427,EAW93428,EAW93429,EAW93430,BAA91772,BAG52495,CAB42852,AAH39071,AAI17131,CAI56771,Q05BM0,Q5VTY9,BAH11984,BAH12521,BAH12917,BAH12967,BAH13854,BAH14561,BAH14895,NP_001164035,NP_001164051,NP_001164058,NP_001164059,ADR83019 Hs.58650 FLJ10724|FLJ34867|GUP2|MART-2|MART2|SIT|SKI1|Skn|rasp|ski OTTHUMP00000034611|melanoma antigen recognized by T cells 2|melanoma antigen recognized by T-cells 2|protein-cysteine N-palmitoyltransferase HHAT|skinny hedgehog protein 1 protein-coding 1344894 HHATL hedgehog acyltransferase-like 20646595,15489334,12477932,11374908,10574461 57467 NM_020707,NR_027753,AC006059,CH471055,AB032999,AB042554,AF109356,BC022529,BI544867,BI596471 NP_065758,EAW64666,EAW64667,EAW64668,BAA86487,BAB17758,AAQ13504,AAH22529,Q5QTR4,Q9HCP6 Hs.476041 C3orf3|GUP1|KIAA1173|MBOAT3|MSTP002|OACT3 GUP1 glycerol uptake/transporter homolog|GUP1, glycerol uptake/transporter homolog|OTTHUMP00000164037|OTTHUMP00000209595|chromosome 3 open reading frame 3|glycerol uptake/transporter homolog|hedgehog acyltransferase-like protein|membrane bound O-acyltransferase domain containing 3|protein-cysteine N-palmitoyltransferase HHAT-like protein protein-coding 1344080 HHC2 hypocalciuric hypercalcemia 2 8317484 3086 1343441 HHC3 hypocalciuric hypercalcemia 3 (Oklahoma type) 9915958 9151 1350411 HHEX hematopoietically expressed homeobox This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq] 1580863 20703447,12554669,10871399,15016828,12655000,12826010,19380854,19368707,19336475,19324937,19279076,19258437,19258404,19247372,19228808,19225753,19172244,19139842,19117022,19082521,19072826,19033397,19020324,19020323,19008344,19002430,18991055,18984664,18755198,18719881,18713067,18633108,18618095,18598350,18597214,18591388,18544707,18516622,18477659,18469204,18461161,18437351,18426861,18388181,18372903,18231124,18210030,18162508,18039816,17971426,17928989,17827400,17804762,17786204,17632701,17618412,17463249,17463248,17463246,17293876,16854221,16582099,16540119,16189514,15489334,15242862,15187083,15062550,15024728,14555989,14517947,12588764,12477932,11889211,11701950,11551904,10597310,8103988,8096636,7911091,7858254,1360645,20571754,20580033,20597906,20616309,20647405,20724036,20802253,20550665,20581827,20862305,19053027,19324893,19401414,19502414,19592620,19602701,19622614,19720844,19741166,19741467,19794065,19808892,19862325,19892838,19933996,19956635,20028982,20041287,20043145,20075150,20080751,20161779,20176809,20203524,20215779,20384434,20424228,20460429,20490451,20503258,20509872,20712903,20816152,20879858,20889853,20927120,20929593,21056935,21059810 3087 NM_002729,AF182950,AL590080,CH471066,AA810064,AK314891,BC014336,BC015110,BC050638,BI823658,BM543214,DB504532,L16499,X67235,Z21533 NP_002720,AAK12833,CAH74086,EAW50087,EAW50088,BAG37405,AAH14336,AAH15110,AAH50638,AAA02988,CAA47661,CAA79730,Q03014,Q9C057,ABZ92007 Hs.118651 HEX|HMPH|HOX11L-PEN|PRH|PRHX hematopoietically-expressed homeobox protein HHEX|homeobox protein HEX|homeobox protein PRH|homeobox, hematopoietically expressed|proline-rich homeodomain-containing transcription factor protein-coding 1354150 HHG hypergonadotropic hypogonadism 2791656 3088 1354359 HHIP hedgehog interacting protein This gene encodes a protein similar to the mouse hedgehog-interacting protein, a regulatory component of the hedgehog signalling pathway. Members of the hedgehog family are evolutionarily conserved proteins which are involved in many fundamental processes in embryonic development, including anteroposterior patterns of limbs and regulation of left-right asymmetry. [provided by RefSeq] 20546612,20656943,19561611,19561609,19300482,19266077,18559595,18391952,18391951,18391950,15970691,15754313,15489334,15294024,14702039,12975309,12477932,11731473,11435703,10050855,20846217,19300500,19343178,19893584,19915594,19996190,20010834,20010835,20173748,20379614,20397748 64399 NM_022475,HC087070,NG_011496,AC098588,AF326471,CH471056,CS319970,AK024645,AK074711,AK098525,AK291849,AY009317,AY009951,AY358747,BC009298,BC015636,BC025311 NP_071920,CBI67672,ABM84544,AAK18182,EAX05054,CAK96038,BAB14945,BAC11154,BAF84538,AAG35411,AAG34731,AAQ89107,AAH09298,AAH25311,Q96QV1 Hs.507991 FLJ20992|FLJ90230|HIP hedgehog-interacting protein protein-coding 1349549 HHIPL1 HHIP-like 1 1580863 14702039,12975309,12477932,11347906 84439 NM_001127258,NM_032425,AL160313,CH471061,AB058725,AK095603,AY358173,BC132877,BC136577 NP_001120730,NP_115801,EAW81676,EAW81677,BAB47451,AAQ88540,AAI32878,AAI36578,Q96JK4,ADR83333 Hs.288522 KIAA1822|UNQ9245 ARAR9245|HHIP-like protein 1 protein-coding 1605638 HHIPL2 HHIP-like 2 16344560,14702039,12975309,12477932,11181995,20379614 79802 NM_024746,AL592148,CH471100,AK023902,AY358602,BC007638,BC015167,BC015201,BC016552,DA868891 NP_079022,CAI40465,EAW93274,BAB14717,AAQ88965,AAH07638,AAH15167,AAH15201,AAH16552,Q6UWX4 Hs.665660 FLJ13840|KIAA1822L|RP11-378J18.1 HHIP-like protein 2|KIAA0319-like|KIAA1822-like|hedgehog interacting protein-like 2 protein-coding 1353531 HHLA1 HERV-H LTR-associating 1 14702039,10329003,8382789,20585627 10086 NM_001145095,AC100868,AC131042,CH471060,AF110315,AK022619 NP_001138567,EAW92139,EAW92140,AAD13107,C9JL84 Hs.285026 PLA2L HERV-H LTR-associating protein 1|OTTHUMP00000179159 protein-coding 1350112 HHLA2 HERV-H LTR-associating 2 1580863 15489334,14702039,12477932,10444326 11148 NM_007072,AC078855,AC135308,CH471052,AF126162,AK000692,AK027132,AK296644,AK315109,BC035971 NP_009003,EAW79727,EAW79728,AAD48396,BAA91323,BAG59244,AAH35971,Q9UM44,ABM83536,ABM86776 Hs.252351 HERV-H LTR-associating protein 2|OTTHUMP00000214399|OTTHUMP00000214400|OTTHUMP00000214401|OTTHUMP00000214402|OTTHUMP00000214403|human endogenous retrovirus-H long terminal repeat-associating protein 2 protein-coding 1351999 HHLA3 HERV-H LTR-associating 3 17207965,16189514,16710414,15489334,12477932,10444326 11147 NM_001036645,NM_001031693,NM_001036646,NR_027404,AL158839,CH471059,AF126163,AF126164,BC010922,BG773961,BI868263,BQ009559,CR595442 ADQ33158,NP_001031722,NP_001026863,NP_001031723,CAH70972,CAH70973,EAX06452,EAX06453,EAX06454,EAX06455,AAD33288,AAD33289,AAH10922,Q5VZP2,Q9XRX5 Hs.142245 HERV-H LTR-associating protein 3|human endogenous retrovirus-H long terminal repeat-associating 3|human endogenous retrovirus-H long terminal repeat-associating protein 3 protein-coding 1313218 HIAT1 hippocampus abundant transcript 1 1580863 16303743,15489334,14702039,12477932,9299464 64645 NM_033055,AC093019,CH471097,AF427492,AK057172,AK075208,AK096669,AL137576,BC033696,BC064409,BC107768 NP_149044,EAW72976,AAL25115,BAB71375,BAC11473,BAC04836,CAB70819,AAH64409,AAI07769,Q32Q64,Q96MC6,AAI56408,AAI72469 Hs.124156 DKFZp564L0864 hippocampus abundant gene transcript 1|hippocampus abundant transcript 1|tetracycline transporter-like protein protein-coding 1606770 HIATL1 hippocampus abundant transcript-like 1 15231747,15489334,15164053,14702039,12477932,9373149,8125298 84641 AL158827,AL358232,NM_032558,AL691447,CH471174,AF255650,AK027659,AK222836,AK300615,AL832415,BC021093,BC106062,BU507687,BX359483,BX648846,CR604727,CR610965 NP_115947,CAH72564,CAI13281,EAW92610,EAW92611,EAW92612,EAW92613,AAG44638,BAB55274,BAD96556,BAG62308,AAH21093,AAI06063,Q5SR56,Q9H2M7,CAI15197 Hs.555996,Hs.727498 FLJ14753|MGC117350 hippocampus abundant transcript-like 1 protein-coding 1347103 HIATL2 hippocampus abundant transcript-like 2 737633 15489334,15164053,12477932 737633 84278 NR_002894,AL158827,AL445670,AK127385,BC005058,CR620736 CAI15052,Q5VZR4 Hs.610084 FLJ45467|MGC12945 pseudo 732658 HIBADH 3-hydroxyisobutyrate dehydrogenase 3-hydroxyisobutyrate dehydrogenase (3-hydroxy-2-methylpropanoate:NAD(+) oxidoreductase, EC 1.1.1.31) is a dimeric mitochondrial enzyme that catalyzes the NAD(+)-dependent, reversible oxidation of 3-hydroxyisobutyrate, an intermediate of valine catabolism, to methylmalonate semialdehyde.[supplied by OMIM] 1580863 15489334,12853948,12690205,12477932,9847074,8313870,3335502,2647728,18222470,15342556,13416257,19834535,15967462,20877624 11112 CR612191,CR616489,BP343005,CA449571,NM_152740,AC005091,AC007130,CH236948,CH471073,CS300494,AB050000,AF529362,AK025558,AK316605,BC013855,BC020167,BC032324,BQ051350,CR591074,CR593267,CR600318,CR607688,CR608754,CR611219 P31937,Q546Z2,ABM85603,NP_689953,EAL24214,EAW93897,EAW93898,EAW93899,EAW93900,CAK32158,BAF42045,AAQ09596,BAG38192,AAH32324 Hs.406758 MGC40361|NS5ATP1 3'-hydroxyisobutyrate dehydrogenase|3-hydroxyisobutyrate dehydrogenase, mitochondrial protein-coding 1318134 HIBCH 3-hydroxyisobutyryl-Coenzyme A hydrolase Beta-hydroxyisobutyryl-CoA hydrolase (EC 3.1.2.4) is responsible for the specific hydrolysis of HIBYL-CoA, a valine catabolite, as well as the hydrolysis of beta-hydroxypropionyl-CoA, an intermediate in a minor pathway of propionate metabolism.[supplied by OMIM] 1580863 20877624,8824301,17474147,17160907,12477932,11580916,9373149,8125298,15342556,16344560 26275 NM_198047,NM_014362,AC010679,AC092178,CH471058,AI767349,AK222979,AK223023,AK308042,AK313651,BC005190,BC067822,BI764401,CA448468,CA453768,CR598902,CR602055,CR609485,CR610664,CR615079,CR618975,CR623866,U66669,BP193393,DB034438,NG_017062 NP_932164,NP_055177,AAX93234,AAY24178,EAX10873,EAX10874,EAX10875,EAX10876,EAX10877,BAD96699,BAD96743,AAH05190,AAH67822,AAC52114,Q6NVY1 Hs.656685 HIBYL-COA-H|HIBYLCOAH 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial|3-hydroxyisobutyryl-Coenzyme A hydrolase|HIB-CoA hydrolase|HIBYL-CoA-H protein-coding 1316774 HIC1 hypermethylated in cancer 1 1580863 9572497,7585125,19486893,19015639,17982487,17283066,17213307,17079468,16762039,16724116,16386221,16301995,15488761,15231840,15007385,14688019,14656076,14506157,12621583,12477932,12052894,11554746,11073960,10611298,9838134,20634891,20547755,16269335,19491197,19525223,19649206,19819984,20682398 3090 NM_001098202,AC090617,AJ007314,AJ404688,CH471108,L41919,AJ550616,AJ583693,AJ583694,BC030208,BQ004706,DQ187313,NM_006497,NG_027689 NP_006488,NP_001091672,CAA07453,EAW90562,EAW90563,EAW90564,AAD09201,CAD79467,AAH30208,ABA60890,O95459,Q14526,Q70SM2,AAI56195,AAI57028 Hs.72956,Hs.695682 ZBTB29|ZNF901|hic-1 hypermethylated in cancer 1 protein|zinc finger and BTB domain-containing protein 29 protein-coding 1313307 HIC2 hypermethylated in cancer 2 1580863 18029348,16169070,19838193,12052894,15489334,15461802,15146197,14702039,12944466,12477932,12168954,10591208,10470851,8889548,11554746,20139978 23119 AP000556,AP000557,CH878607,AB028943,AF349035,AJ313204,NM_015094,AK023021,AL162003,BC009207,BC009216,BC094787,BM675330,CN373403,CR456377 NP_055909,EAW50621,BAA82972,AAK72951,CAC70715,CAB82344,AAH94787,CAG30263,Q96JB3,CAK54513,CAK54812 Hs.632767 HRG22|KIAA1020|ZBTB30|ZNF907 HIC1-related gene on chromosome 22 protein|OTTHUMP00000198510|OTTHUMP00000198511|hic-2|hic-3|hypermethylated in cancer 2 protein|zinc finger and BTB domain-containing protein 30 protein-coding 730935 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) Hypoxia-inducible factor-1 (HIF1) is a transcription factor found in mammalian cells cultured under reduced oxygen tension that plays an essential role in cellular and systemic homeostatic responses to hypoxia. HIF1 is a heterodimer composed of an alpha subunit and a beta subunit. The beta subunit has been identified as the aryl hydrocarbon receptor nuclear translocator (ARNT). This gene encodes the alpha subunit of HIF-1. Overexpression of a natural antisense transcript (aHIF) of this gene has been shown to be associated with nonpapillary renal carcinomas. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq] 1601553,1626317,1626323,625730,1626327,1626334,1626330,1626332,1626322,1626331,1334463,1334466,1580561,1626320,1626324,2301848,2306222,2306224,2306225,2306226,2291911,2293195,2306227,2306223,1580863 12778114,15474027,16011198,16424018,16511565,16638120,16736613,16777103,17024177,17047048,17220880,17236590,17294729,17403672,17418410,17439941,17545054,17718430,17903293,18246800,18250065,18315897,18422279,18570733,18835792,18979225,19007879,19028566,19130303,19180921,19188659,19188818,19254160,19303436,19381167,19383558,19386601,19390242,19403384,19406746,19419319,19423615,19449077,19456861,19470762,19489936,19491109,19502554,19524065,19529947,19549898,19549990,19552765,19558170,19563493,19580347,19580810,19589398,19589782,19590529,19602254,19604478,19637235,19640849,19648120,19651758,19657231,19660915,19668230,19671674,19671685,19671876,19680224,19691832,19694616,19696166,19707816,19712049,19714248,19717330,19720740,19723043,19724277,19724845,19726677,19727403,19742344,19760195,19763399,19766100,19768395,19768695,19779103,19779281,19782034,19782666,19786016,19788888,19789263,19790048,19790065,19801454,19801684,19802003,19802386,19804771,19813243,19819950,19828020,19834107,19837381,19838207,19841637,19841638,19845827,19846525,19858293,19880520,19880525,19887373,19892848,19893619,19901273,19903792,19915370,19919690,19934275,19940151,19940550,19948069,19949104,19957875,19962963,19995553,19996311,20003271,20005538,20011601,20018172,20019845,20026874,20028790,20028863,20032376,20035632,20036816,20037203,20042684,20059631,20078552,20097172,20104680,20105288,20110409,20123452,20127031,20145132,20149310,20154717,20154724,20164027,20165885,20166137,20169663,20184881,20194722,20194889,20198320,20204822,20206160,20232298,20232316,20299614,20303950,20307196,20308562,20346360,20389299,20392253,20392254,20403915,20414936,20427666,20453000,20513003,20540786,15776016,20538960,20678440,20691219,20800603,20832699,20848794,20926496,20931543,20943999,20952631,20952681,18484090,18297062,17927572,16951198,19046997,19030229,19030186,19028544,19028277,19021062,19018560,19018165,19016766,19016246,18998488,18996491,18996102,18987249,18985005,18984585,18983642,18980686,18950958,18949419,18945963,18945681,18936945,18936210,18927085,18922940,18844219,18842833,18841476,18838541,18835464,18834862,18832593,18813785,18799519,18792019,18790176,18790175,18787502,18785001,18784753,18780286,18779379,18775313,18772337,18763582,18762723,18728026,18720385,18718909,18713836,18713068,18704463,18703592,18694926,18687685,18658046,18655183,18648372,18644974,18641302,18638657,18632605,18630523,18621534,18619649,18617693,18606657,18593917,18592007,18588890,18574470,18563715,18563339,18561315,18554951,18551130,18546529,18528739,18521687,18506785,18493321,19048182,9079689,8387214,7539918,8756616,15261140,12239177,16956324,18370914,8089148,1448077,18254728,9887100,9576906,11782478,12411310,18419598,18029348,19676145,19602906,19546348,19541609,19528298,19504235,19492421,19487287,19484260,19458911,19447872,19445542,19436307,19417024,19414801,19401150,19362550,19360424,19359588,19347037,19336661,19321184,19307182,19306159,19304911,19303878,19302703,19293442,19287962,19287200,19279559,19268443,19266161,19265035,19255431,19254710,19252526,19251694,19244104,19240858,19238077,19235921,19223895,19223463,19212642,19212630,19211927,19211554,19204000,19184477,19183269,19179443,19179292,19176596,19172095,19168635,19165496,19151763,19147754,19147752,19142800,19141292,19132225,19128456,19123465,19121088,19109240,19106642,19105964,19098000,19097995,19097132,19096962,19096126,19091459,19080330,19077391,19077164,19074848,19071119,19061835,19057015,19054610,19107364,20727020,20729179,20932347,21059928,21073737,19575963,20363910,20624928,20631377,20631454,20811474,21061787,21095582,19602039,19808899,20001759,20032301,20039880,17362638,19919679,20237132,20368331,20374513,20412701,20021862,20348876,20380593,20453713,20509143,20596845,18476949,18473128,18465238,18462799,18459144,18452596,18447926,18440561,18426857,18424783,18424433,18422749,18418234,18413745,18411415,18398039,18393939,18385176,18384112,18381358,18381294,18376310,18370960,18365547,18362831,18354193,18351386,18347341,18342368,18339685,18325389,18314489,18309031,18299578,18294451,18292935,18290322,18279708,18269201,18258605,18256363,18240292,18239067,18225753,18222538,18221327,18209490,18199003,18184961,18184809,18178340,18172354,18172309,18172210,18166158,18163427,18160046,18159247,18154573,18097583,18094421,18083891,18081507,18065728,18055454,18050252,18050215,18295594,18047470,18037992,18035072,18031949,18030615,18025805,18024825,18024476,18021370,18006690,18000826,17999410,17990984,17989922,17984117,17982282,17978497,17967880,17967866,17967865,17965024,17956732,17947829,17942596,17932327,17916562,17898080,17893997,17891484,17889387,17881647,17875644,17852557,17848618,17828303,17826745,17822384,17805961,17785433,17726031,17725546,17721610,17714861,17713282,17684492,17676480,17674038,17666400,17662481,17653093,17640715,17637739,17634230,17624927,17617866,17606258,17597020,17591803,17576198,17570486,17568584,17563752,17562866,17562539,17595907,17592963,17558023,17555795,17544543,17532031,17525282,17519789,17519536,17511040,17507435,17495954,17490410,17488873,17487356,17482131,17477366,17474992,17473988,17458899,17452775,17451682,17442736,17442277,17438103,17437013,17426252,17426247,17418979,17418790,17407091,17404022,17400550,17387384,17382325,17382205,17376295,17360382,17343848,17336340,17335808,17325032,17320759,17310851,17307335,17292638,17290185,17289897,17289019,17268888,17245699,17189520,17179985,17143338,17135241,17102633,17102128,17097641,17461470,17097563,17077301,17075581,17067582,17066447,17060462,17060326,17055760,17043658,17015745,17015263,17010341,16998808,16979927,16970912,16969516,16954218,16951228,11593383,15721254,9704006,16937436,16920734,16901993,16899602,16899596,16890383,16885164,16883594,16873253,16871792,16865676,16854377,16849522,16847054,16837101,16828081,16826581,16826425,16815840,16779673,16775835,16775626,16769565,16768548,16760477,16756955,16738327,16735500,16721291,16682946,16631533,16629644,16627691,16612574,16611863,16596228,16579968,16555123,16554418,16552335,16543245,16543242,16543236,16533170,16516853,16516166,16515634,16506055,16490744,16482104,16452478,16438736,16421254,16408279,16407835,16396931,16344560,16341243,16338068,16337862,16331995,16304044,16288748,16288478,16284786,16278385,16278378,16263938,16261165,16253768,16246222,16242072,16229017,16227395,16208522,16205110,16195397,16189514,16170370,16168127,16161047,16157596,16149050,16144691,16142350,16140212,16139409,16136514,16136272,16110315,16109785,16100168,16046581,16035955,16007214,16005427,15994306,15987702,15987493,15983061,15978586,15970466,15967109,15964822,15962286,15947089,15935515,15902299,15897903,15878343,15864753,15862307,15862159,15850830,15838334,15838297,15832512,15831177,15814637,15811877,15809750,15805242,15805230,15770733,15750626,15741220,15735682,15718424,15709180,15696961,15674338,15669079,15665520,15656883,15652751,15629713,15623945,15615775,15611064,15611046,15598882,15598682,15561954,15556623,15543236,15538748,15492789,15489637,15489334,15485863,15479785,15475194,15474452,15466858,15388333,15385570,15374877,15350301,15342781,15342390,15331549,15328163,15322093,15280370,15280364,15252039,15247232,15240563,15240510,15217953,15199161,15199132,15199114,15191555,15175080,15170665,15169887,15160341,15156561,15155569,15146197,15135470,15135259,15111179,15084514,15084243,15082785,15071503,15064771,15062033,15031145,15024078,15024076,14981919,14757845,14744852,14744756,14742449,14734545,14729605,14726529,14712484,14702039,14699081,14681237,14680833,14680803,14672622,14671307,14662854,14657004,14645546,14638687,14636255,14559790,14556007,14523474,14521712,14512791,12966423,12944107,12937141,12919954,12914934,12914933,12912907,12900407,12885785,12883692,12876287,12871382,12865501,12858534,12855680,12823854,12821113,12810083,12781449,12764143,12761217,12743597,12727858,12697836,12682018,12673675,12670503,12651620,12632503,12606552,12588875,12586627,12560087,12488445,12485909,12485908,12482858,12482756,12477932,12468553,12464182,12451989,12446723,12401798,12376345,12351678,12296651,12242281,12237125,12228247,12215445,12213806,12213597,12209691,12207089,12202863,12154057,12149254,12136249,12124396,12123724,12099689,12084725,12080085,12062197,12050673,12042299,12016145,12004076,11992540,11980639,11971899,11959990,11959977,11943784,11940656,11886167,11868612,11861398,11852072,11823643,11739718,11734856,11726537,11707426,11641274,11598268,11566883,11504942,11389899,11382768,11292862,11292861,11278891,11089639,11006129,10961998,10950862,10944113,10906065,10903152,10823831,10777486,10758161,10702253,10640274,10594042,10551817,10425220,10202154,9923855,9828130,9822602,9782081,9653127,9537326,9235919,8927054,8816435,8786149,8753788,8107114,7836384,18305400,17981124,17973296,15780936,8663540,18476562,20117921,20228066,20347817,20429620,20459575,17045016,19913121,20158574,20393480,20398057,20525878,20526373,20581113,20599538,20602615,20628086,20628624,20651398,20634891,20635169,20644561,20656543,20659427,20007689,20075985,20470445,20478051,20515450,20398289,20526721,20569445,17445471,20020496,20150769,20347035,20427288,20620956,20648588,20661221,20716529,20876310,20888814,20962622,20559438,20572162,16407130,16507982,18307947,18307948,20217131,20383692,20388348,20407014,20427344,20473281,20496369,20562859,20574527,20644645,20651983,20668552,20675386,20706634,15147973,15382039,15465032,19898961,20300531,20498255,20661931,20667978,20711226,20723413,20813154,20889502,19958256,20001745,20136501,20174965,20416395,20427574,20514449,20514457,20544685,20556833,20624301,20021945,20845004,20864819,18060642,19335985,20724477,20888838,20965423,20972335 1601553,1626317,1626323,625730,1626327,1626334,1626330,1626332,1626322,1626331,1334463,1334466,1580561,1626320,1626324,2306222,2306224,2306225,2306226,2291911,2293195,2306227,2306223 3091 AB500182,NM_181054,AF050127,AF208487,AL137129,CH471061,AB073325,AF207601,AF207602,AF304431,AJ227916,AK093749,AK296876,AK299551,AK304315,AK304436,AK312397,AU123241,BC012527,BT009776,BX648795,CN264295,DC344032,FJ790247,U22431,U29165,X72726,NM_001530 BAI49183,NP_001521,NP_851397,AAC68568,AAF20149,EAW80806,EAW80807,EAW80808,EAW80809,BAB70608,AAF20139,AAF20140,AAG43026,BAG59438,BAG61496,BAG65167,BAG65259,BAG35314,AAH12527,AAP88778,ACN88547,AAC50152,AAC51210,Q16665 Hs.719495,Hs.597216 HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 ARNT interacting protein|ARNT-interacting protein|HIF-1-alpha|OTTHUMP00000179063|PAS domain-containing protein 8|basic-helix-loop-helix-PAS protein MOP1|class E basic helix-loop-helix protein 78|hypoxia-inducible factor 1 alpha isoform I.3|hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)|hypoxia-inducible factor 1-alpha|member of PAS protein 1|member of PAS superfamily 1 protein-coding 1317966 HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 1580863,1334466 20727020,12446723,19074848,18936059,18927305,18676680,18611856,18398039,18299578,18280659,18096060,17682059,17573339,17003112,16189514,15489334,15280364,14734545,14702039,14701857,12482756,12477932,12432100,12080085,12042299,11959990,11823643,11641274,16385451,17382325,17636018,19170196,19245366,19401150,19615732,19625176,19692168,19696166,19726677,20145132,20453000 1334466 55662 NM_017902,AL133352,CH471066,AF395830,AK000622,AK025680,AK295353,AL359615,AW015561,BC007719,BC015574,CR621864 NP_060372,CAH73566,EAW49817,EAW49818,AAL27308,BAA91291,BAB15213,BAG58320,CAB94885,AAH07719,Q9H6P2,Q9NWT6,ABM83693,ABM87012 Hs.500788 DKFZp762F1811|FIH1|FLJ20615|FLJ22027 FIH-1|factor inhibiting HIF-1|factor inhibiting HIF1|hypoxia-inducible factor 1-alpha inhibitor|hypoxia-inducible factor asparagine hydroxylase|peptide-aspartate beta-dioxygenase protein-coding 1605351 HIF3A hypoxia inducible factor 3, alpha subunit The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. At least three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 17998805,17121608,16775626,16344560,16182248,16126907,14702039,12538644,12477932,12119283,11734856,11573933,15474027,19694616,20416395,20551700 64344 AF463492,AK021421,AK021653,AK021881,AK024095,AK027725,AK297828,AK299699,AK304747,AK314680,AL541807,BC026308,BC080551,BE250712,BI772109,BQ706970,CR612598,CR615892,DA562618,DB176660,DN989983,NM_152795,NM_022462,NM_152794,AC007193,CH471126,AB054067,AB118749,AB295039,AF079154 AAL69947,BAB13819,BAB13865,BAB14824,BAB55324,BAG60164,BAG61601,BAG65505,BAG37233,AAH26308,AAH80551,O95262,Q9HAM5,Q9UPH7,Q9Y2N7,AAC99397,NP_690008,NP_071907,NP_690007,AAD22667,AAD22668,EAW57408,EAW57409,EAW57410,EAW57411,EAW57412,EAW57413,EAW57414,BAB69689,BAD93355,BAG07185 Hs.420830 HIF-3A|HIF-3A2|HIF-3A4|IPAS|MOP7|PASD7|bHLHe17 HIF-3-alpha|HIF3-alpha|HIF3-alpha-1|OTTHUMP00000180609|PAS domain-containing protein 7|basic-helix-loop-helix-PAS protein MOP7|class E basic helix-loop-helix protein 17|hypoxia-inducible factor 3-alpha|hypoxia-inducible factor-3 alpha 4|inhibitory PAS domain protein|member of PAS protein 7 protein-coding 1603666 HIGD1A HIG1 hypoxia inducible domain family, member 1A 15489334,15342556,12477932,11230166,11076863,11042152,10690527,9373149,8889548,8125298,17353931,11256614,16381901,16344560,15489336,20877624 25994 NM_001099669,NM_014056,NM_001099668,AC099329,CH471055,AF077034,AF145385,AK225461,AK225571,AK311815,AL110233,BC000601,BC009583,BC009594,BC070277,BG708126,BM983292,BM983580,BP208784,BP370118,CR457385,CR594522,CR597875,CR604953,CR612196,CR613730,CR617676,CR620520,CR623256,CR624636,DA428926,CR593020 NP_001093139,NP_054775,NP_001093138,EAW64673,EAW64674,EAW64675,EAW64676,EAW64677,AAD27767,AAD33954,BAG34758,CAB53686,AAH00601,AAH09583,AAH09594,AAH70277,CAG33666,Q9Y241,CAL38705 Hs.7917,Hs.593134 DKFZp564K247|HIG1 2210020B17Rik|7420700H20Rik|HIG1 domain family member 1A|HIG1 domain family, member 1A|OTTHUMP00000209624|hypoxia inducible gene 1|hypoxia-inducible gene 1 protein protein-coding 1601998 HIGD1B HIG1 hypoxia inducible domain family, member 1B 15489334,12477932,16169070 51751 NM_016438,AC015936,CH471178,CS185587,AB038021,AB038022,BC020667 NP_057522,EAW51575,EAW51576,CAJ42768,BAA90725,BAA90726,AAH20667,Q9P298 Hs.287963 CLST11240|CLST11240-15 CLST 11240 protein|CLST 11240-15 protein|HIG1 domain family member 1B|HIG1 domain family, member 1B|protein CLST 11240 protein-coding 1602019 HIGD1C HIG1 hypoxia inducible domain family, member 1C 16541075,15869325,17554300 613227 NM_001109619,AC008121,DQ029494,DW009649 NP_001103089,A8MV81,AAI72304 Hs.702849 GM921|UBIE|UBIE2 HIG1 domain family member 1C|HIG1 domain family, member 1C protein-coding 2303458 HIGD1D HIG1 hypoxia inducible domain family, member 1D 15869325 100129086 NG_009611,AC073573,DQ052161 HIG1|HIGD1D pseudo 1603886 HIGD2A HIG1 hypoxia inducible domain family, member 2A 15489334,12477932,20877624 192286 NM_138820,AC138956,CH471195,BC007502 NP_620175,EAW85081,EAW85082,AAH07502,Q9BW72,ABM82819,ABM86006 Hs.534575 MGC2198 HIG1 domain family member 2A|HIG1 domain family, member 2A protein-coding 1603920 HIGD2B HIG1 hypoxia inducible domain family, member 2B (pseudogene) 12477932 123346 NR_002780,AC009712,CH471082,BC040890 EAW77911,Q4VC39 Hs.434111 HIGD2BP pseudo 1604942 HILS1 histone linker H1 domain, spermatid-specific 1 This locus is the ortholog of a mouse protein-coding gene that displays characteristics of a linker histone and is expressed in nuclei of late maturing spermatids. The human locus is expressed; however, the open reading frame has been disrupted by a frameshift so it is unlikely to encode a functional protein. [provided by RefSeq] 19896661,12920187,14636221,17852044,12477932 373861 NR_024192,AC015909,AY286318,BC033456,BC048250,BC109047,BC109048,NR_024193 AAQ23050,P60008 Hs.25934 pseudo 1603667 HINFP histone H4 transcription factor MIZF interacts with methyl-CpG-binding protein-2 (MBD2; MIM 603547), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression.[supplied by OMIM] 19170105,18850719,17974976,17176114,17163457,17049487,16786000,16189514,15988025,15541338,15489334,14752047,14702039,14585971,12477932,11553631,12665568,17577209,9540062,19913121,20628086 25988 AK300288,AK301452,AK092869,AL080201,BC001073,BC001945,BC012856,BC017234,BF726036,BG821695,CR599076,NM_015517,NM_198971,AP002956,AP003391,CH471065,AK056362 BAG62045,BAG62976,CAB45773,AAH01073,AAH01945,AAH12856,AAH17234,Q9BQA5,ABM85573,NP_056332,NP_945322,EAW67460,EAW67461,EAW67462,EAW67463,BAG51688 Hs.504091 DKFZp434F162|HiNF-P|MIZF|ZNF743 MBD2 (methyl-CpG-binding protein)-interacting zinc finger protein|MBD2-interacting zinc finger 1|MBD2-interacting zinc finger protein|histone H4 gene-specific protein HiNF-P|histone H4 transcription factor|histone nuclear factor P|methyl-CpG-binding protein 2-interacting zinc finger protein protein-coding 1606034 HINT1 histidine triad nucleotide binding protein 1 20468064,20514075,9770345,8812426,19240791,19112177,19089909,19081673,20499681,18799291,18593937,17978999,17939685,17126529,16835243,16344560,15489334,14702039,12665801,12477932,12119013,11805111,11771757,10409428,9323207,8889549,8643579,7644499,12775419 3094 NM_005340,NR_024610,NR_024611,AC004650,CH471062,AA076103,AK026557,AK054976,AK056902,BC001287,BC007090,BC028300,BG527380,BG708765,BG942577,CK002748,CR457048,DA352878,DB125655,DB289264,U27143,U51004 NP_005331,EAW62376,BAB15500,AAH01287,AAH07090,CAG33329,AAA82926,AAC71077,P49773 Hs.483305 FLJ30414|FLJ32340|HINT|PKCI-1|PRKCNH1 adenosine 5'-monophosphoramidase|histidine triad nucleotide-binding protein 1|protein kinase C inhibitor 1|protein kinase C-interacting protein 1 protein-coding 2974749 HINT1P1 histidine triad nucleotide binding protein 1 pseudogene 1 12119013,12690205 730647 AC073342,CH236959,NG_009195 EAL23785 HINTP1 pseudo 1318948 HINT2 histidine triad nucleotide binding protein 2 Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM] 1580863 17207965,20877624,18653718,15489334,12477932,12119013,9373149,8125298,16762638 84681 AF490476,AL133410,CH471071,AF085236,AF356515,AF356875,AK222582,AY033094,BC033538,BC047737,NM_032593,CR594233,BM764627,BI759951 NP_115982,AAM09526,CAI10991,EAW58331,EAW58332,EAW58333,EAW58334,AAL40394,AAK37562,AAM00221,BAD96302,AAK53455,ADQ33064,AAH47737,Q53HJ8,Q8WYJ5,Q9BX68 Hs.70573 HIT-17 HINT-2|HINT-3|HIT-17kDa|PKCI-1-related HIT protein|histidine triad nucleotide-binding protein 2, mitochondrial|protein kinase C inhibitor-2 protein-coding 1347010 HINT3 histidine triad nucleotide binding protein 3 Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM] 17870088,16344560,14702039,12477932,12119013,11805111,18029348 135114 NM_138571,AL035689,CH471051,AJ420577,AK056858,AK057688,AK309857,AY035387,AY035388,AY486460,AY486461,BC015732,BX647228,CR616633,CX755653,DA393891,DA997963 NP_612638,CAB92728,EAW48128,EAW48129,BAG51953,AAK71347,AAK71348,AAR89533,AAR89534,AAH15732,Q9NQE9,ABM83127,ABM86322 Hs.72325 FLJ33126|FLJ99898|HINT4|MGC22976 HINT-3|HIT-like protein|histidine triad nucleotide-binding protein 3 protein-coding 736003 HIP1 huntingtin interacting protein 1 The product of this gene is a membrane-associated protein that colocalizes with huntingtin. This protein has similarities to cytoskeleton proteins and its interaction with huntingtin is thought to play a functional role in the cell filament network. Loss of normal huntingtin-HIP1 interaction in Huntington disease may contribute to a defect in membrane-cytoskeletal integrity in the brain. This gene could help in the understanding of the normal function of huntingtin and also the pathogenesis of Huntington disease. It also has been implicated in the pathogenesis of hematopoietic malignancies. An alternative splice variant of this gene has been described but its full length sequence has not been determined. [provided by RefSeq] 1580863 18029348,19838193,20179344,11604514,11577110,14732715,9140394,11788820,11889126,11007801,11532990,21109226,9147654,19626275,18790740,18155047,17452370,16979168,16847693,16169070,16027218,15581353,15533940,15383276,15122254,15059611,14702039,12853948,12477932,12163454,11517213,11063258,10222105,9616134,9417924,1189126 3092 NM_005338,AC004491,AC018720,AF052288,CH471220,AF365404,AF486833,AI978782,AK094866,AK296390,AK302382,AK304738,BC110545,BC139786,BE389909,BG027957,BM550560,BM556334,BM739599,BQ581346,CA427404,U79734,Y09420,NG_023251 NP_005329,AAC33564,EAW71767,EAW71768,AAL87037,AAL93198,BAG59058,BAG63699,BAG65499,AAI10546,AAI39787,AAC51257,CAA70574,O00291,Q8TDA4 Hs.329266,Hs.619089 ILWEQ|MGC126506 HIP-1|HIP-I|OTTHUMP00000209130|huntingtin-interacting protein 1|huntingtin-interacting protein I protein-coding 733372 HIP1R huntingtin interacting protein 1 related 14732715,11889126,15533940,19255499,18790740,18165318,17928447,17452370,16415883,15588756,15581353,14760703,14742709,14702039,12477932,11063258,9734811,1189126,9852681,17318189,20379614 9026 AC027290,CH471054,AB013384,AB014555,AK024062,AK090537,AK295389,AK298387,AK307446,AK308538,AW962010,BC011354,NM_003959,BC038981,BC067085,CF454957,CH236948 NP_003950,EAW98346,EAW98347,BAA33713,BAA31630,BAG51260,BAG52180,BAG58343,BAG60622,AAH67085,O75146,Q6NXG8,Q6ZNW4 Hs.524815,Hs.714965,Hs.725278 FLJ14000|FLJ27022|HIP12|HIP3|ILWEQ|KIAA0655|MGC47513 HIP-12|HIP1-related protein|huntingtin interacting protein 12|huntingtin-interacting protein 1-related protein|huntingtin-interacting protein 12 protein-coding 1312671 HIPK1 homeodomain interacting protein kinase 1 The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq] 12529400,12702766,15701637,15489334,15231748,14702039,12968034,12477932,9748262,9734811,16917507,18029348,19646965,20936779 204851 NM_198268,NM_152696,NM_198269,NM_181358,AL137856,AL731797,CH471122,AB014530,AB089957,AK122662,AK302726,AL833829,BC028408,BC033012,BC033339,BC036057,BC052493,CR614463,AA995033 NP_938009,NP_689909,NP_938010,NP_852003,CAI22792,CAI22793,CAI22794,CAI22795,CAI22796,EAW56585,EAW56586,EAW56587,EAW56588,EAW56589,EAW56590,EAW56591,EAW56592,EAW56593,BAA31605,BAC57075,BAG53650,BAG63945,CAD38689,AAH28408,AAH33012,AAH36057,Q5SQL1,Q5SQL3,Q86Z02 Hs.532363 KIAA0630|MGC26642|MGC33446|MGC33548|Myak|Nbak2 OTTHUMP00000013766|OTTHUMP00000013768|OTTHUMP00000218031|homeodomain interacting protein kinase 1-like protein|homeodomain-interacting protein kinase 1|nuclear body associated kinase 2b protein-coding 1319649 HIPK2 homeodomain interacting protein kinase 2 HIPK2 is a conserved serine/threonine nuclear kinase that interacts with homeodomain transcription factors.[supplied by OMIM] 1580863 18395248,11593421,12220523,9748262,14990717,14647468,15122315,14678985,18029348,19438900,19128456,19046997,19043406,19015637,18996371,18809579,18695000,18644116,18536714,18483253,18408760,18093972,17960875,17627287,17533375,17349959,17332358,17290307,17245128,17018294,16738336,16601678,16467083,16407227,16343438,16253240,16212962,15958389,15896780,15766567,15708980,15146197,14626429,14609633,12907596,12874272,12853948,12851404,12690205,12477932,11925430,11798164,11780126,11740489,20624637,11438542,11267674,11120354,11032752,10559189,10535925,9110174,8619474,18765672,15082531,14667819,11532197,19950553,11875057,16730941,16917507,19448668,19567674,19668373,19714248,19794125,19820693,19828042,20379614,16055500,20936779,20849851 28996 NM_022740,NM_001113239,AC005531,AC073184,AC141932,CH236950,CH471070,CQ967477,AF055019,AF207702,AF208291,AF326592,AI580907,AK074291,BC041926,BC043184,BC043652,BC045719,BX647377,CK818532,CN413736 NP_073577,NP_001106710,AAS00368,EAL24035,EAW83925,EAW83926,EAW83927,EAW83928,EAW83929,CAI38625,AAG35710,AAG41236,AAL37371,Q9H2X6,Q9UI21,AAI68360 Hs.728141 DKFZp686K02111|FLJ23711|PRO0593 hHIPk2|homeodomain-interacting protein kinase 2 protein-coding 731500 HIPK3 homeodomain interacting protein kinase 3 20936779,18029348,11034606,14766760,17210646,16554811,16000324,15592455,15231748,10961991,10737800,10640824,10640736,9748262,9725910,9373137,20677014,10919273,20347265 10114 NM_005734,NM_001048200,AL122015,AL136126,CH471064,AA456456,AF004849,AF305239,AK293009,AK304063,AK315277,AL597397,AW819916,AY425958,BF332205,DR000092,Y09306 NP_005725,NP_001041665,CAC13164,CAJ55828,EAW68198,EAW68199,AAC64294,AAG25990,BAF85698,BAG64970,AAR07951,CAA70489,Q6TAR1,Q9H422,AAI46312,AAI56874 Hs.201918 DYRK6|FIST3|PKY|YAK1 ANPK|FIST|androgen receptor-interacting nuclear protein kinase|fas-interacting serine/threonine-protein kinase|homeodomain-interacting protein kinase 3|homolog of protein kinase YAK1 protein-coding 1316795 HIPK4 homeodomain interacting protein kinase 4 1580863 18022393,15489334,14702039,12477932 147746 NM_144685,AC010271,CH471126,CQ891383,AK057380,AK292228,AK301713,AK302301,BC034501,HC007020,HC044799 NP_653286,EAW56960,EAW56961,CAH68679,BAB71458,BAF84917,BAG63184,BAG63641,AAH34501,Q8NE63,CBH19315,CBH30729 Hs.79363 FLJ32818 homeodomain-interacting protein kinase 4 protein-coding 1346310 HIRA HIR histone cell cycle regulation defective homolog A (S. cerevisiae) This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq] 1580863 11342215,9731536,7633437,9710638,19046189,19029251,17242207,16980972,16024922,15621527,15561718,15489334,15461802,15231747,12477932,11238922,8995764,8681138,8111380,19913121,20628086,20211137 7290 NM_003325,NG_009231,AC000079,AC000085,AC000092,CH471176,X91501,AK289809,AK299950,AK302835,AK308642,BC032721,BC039835,CR456503,X75296,X77633,X81844,X89887 NP_003316,EAX03043,EAX03044,CAA62800,BAF82498,BAG61778,BAH13816,AAH32721,AAH39835,CAG30389,CAA53044,CAA54721,CAA57436,CAA61979,P54198,CAK54532,CAK54831 Hs.474206 DGCR1|TUP1|TUPLE1 DiGeorge critical region gene 1|TUP1-like enhancer of split protein 1|protein HIRA protein-coding 1315096 HIRIP3 HIRA interacting protein 3 The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Recently, several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the HIRIP3 gene product binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. [provided by RefSeq] 1580863 9710638,17391060,17081983,16964243,16083285,15489334,15302935,12477932,16344560,8889548,16169070,19242545 8479 NM_003609,AC093512,CH471238,AJ223349,AJ223350,AJ223351,AK075145,AK312504,BC000588,CR623473,CR624147,BU730222,DA784706 NP_003600,EAW79960,EAW79961,CAA11273,CAA11274,CAA11275,BAG52072,BAG35406,AAH00588,Q9BW71 Hs.592046 HIRA-interacting protein 3 protein-coding 1604040 HISPPD1 histidine acid phosphatase domain containing 1 Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as cell signaling molecules. HISPPD1 has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC 2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8), respectively (Fridy et al., 2007 [PubMed 17690096]).[supplied by OMIM] 17702752,17690096,12477932,9455477,18981179,20379614 23262 NM_015216,AC008447,AC011362,CH471086,AB007893,AK025159,AK027116,AK294787,BC024591,CR597259 NP_056031,EAW49076,EAW49077,EAW49078,EAW49079,BAA24863,BAG57912,AAH24591,O43314 Hs.212046 FLJ21506|FLJ23463|HISPPD1|IP7K2|KIAA0433|PPIP5K2|VIP2 OTTHUMP00000222706|VIP1 homolog 2|histidine acid phosphatase domain containing 1|histidine acid phosphatase domain-containing protein 1|hsVIP2|inositol heptaphosphate kinase 2|inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2|insP6 and PP-IP5 kinase 2 protein-coding 1605707 HISPPD2A histidine acid phosphatase domain containing 2A Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as cell signaling molecules. HISPPD2A has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC 2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8), respectively (Fridy et al., 2007 [PubMed 17690096]).[supplied by OMIM] 17412958,17702752,17690096,16344560,12825070,12477932,9205841,16110330,18636086,18981179 9677 BX647814,BX647870,DB065605,DB228266,AB002375,AF502586,AF502587,AF502588,AF502589,AF543190,AI214309,AI656736,AK307438,BC035611,BC050263,BC057395,BX538022,CH471125,NM_014659,NG_005156,NM_001130858,NM_001130859,AC011330,AC019011,DQ102768,AI638651,NG_022929,NM_001190214 CAI46011,Q6PFW1,EAW92609,BAA20831,AAP30842,AAP30843,AAP30844,AAP30845,AAN40768,AAH50263,AAH57395,CAD97968,NP_055474,NP_001124330,NP_001124331,AAZ78114,Q3YL88,NP_001177143 Hs.156814,Hs.679911 DKFZp313L0221|HISPPD2A|IP6K|IPS1|KIAA0377|MGC51871|PPIP5K1|VIP1|hsVIP1 IP6 kinase|OTTHUMP00000066120|OTTHUMP00000066123|OTTHUMP00000066263|OTTHUMP00000196869|VIP1 homolog|histidine acid phosphatase domain containing 2A|histidine acid phosphatase domain-containing protein 2A|inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1|inositol pyrophosphate synthase 1|insP6 and PP-IP5 kinase 1 protein-coding 2290510 HISPPD2B histidine acid phosphatase domain containing 2B (pseudogene) 12825070 554224 NG_005156,AC011330 HISPPD2B|HISPPD2BP pseudo 1313894 HIST1H1A histone cluster 1, H1a Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 20356835,9247342,9325046,17214964,7989039,15595731,15489334,14985337,12477932,12408966,11266453,11130728,10893414,10523312,10022855,9760185,9119399,8814229,8325638,7499230,2759094,1989977,8565853,14595808,8463339,15205535,17048991,20800603 3024 NG_001335,AF531299,CH471087,X57130,BC069492,BC101593,BC112140,NM_005325 NP_005316,AAN06699,EAW55507,CAA40409,AAH69492,AAI01594,AAI12141,Q02539,ABZ92487 Hs.150206 H1.1|H1A|H1F1|HIST1|MGC126642|MGC138345 H1 histone family, member 1|histone 1, H1a|histone 1, h1a|histone H1.1 protein-coding 1351111 HIST1H1B histone cluster 1, H1b Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 19136008,17081983,16377619,16216881,16185066,15635413,15595731,15489334,15469825,14574404,12686141,12477932,12408966,11266453,9873047,9439656,9119399,9031620,8325638,7629134,6719136,3782055,3182772,2829131,2613692,11581402,17540172,20800603 3009 NG_000009,NM_005322,AF531304,CH471081,K02570,M23203,X06757,X83509,Z98744,BC069101,BC101581,BC101583 NP_005313,AAN06704,EAX03119,AAA35943,CAA29930,CAA58498,CAB11421,AAH69101,AAI01582,AAI01584,P16401,Q14463,ABZ92488 Hs.131956 H1|H1.5|H1B|H1F5|MGC126630|MGC126632 H1 histone family, member 5|histone 1, H1b|histone 1, h1b|histone H1.5|histone H1a protein-coding 1343160 HIST1H1C histone cluster 1, H1c Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 1580863 18568448,18258596,17879944,17081983,16854430,15635413,15595731,15489334,12477932,12408966,10997781,10893414,9439656,8325638,8055927,2759094,2613692,20587610,16169070,20800603 3006 NM_005319,NG_001335,AF531300,CH471087,X57129,AB451259,AB451385,AK290947,BC002649 NP_005310,AAN06700,EAW55515,CAA40408,BAG70073,BAG70199,BAF83636,P16403,ABZ92489,ACE87439,ACE86751 Hs.7644 H1.2|H1C|H1F2|MGC3992 H1 histone family, member 2|histone 1, H1c|histone 1, h1c|histone H1.2|histone H1d protein-coding 1343145 HIST1H1D histone cluster 1, H1d Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 1580863 18391950,17081983,15635413,15595731,15489334,14574404,12477932,12408966,11478838,9439656,9119399,8325638,2613692,2071153,1916825,19266077,19343178,19893584,20846217 3007 NM_005320,NG_001335,AF531303,AL031777,CH471087,M60747,AK312845,BC104874,BC111971 NP_005311,AAN06703,CAB39189,EAW55548,AAA63186,BAG35698,AAI04875,AAI11972,P16402,ABZ92490 Hs.136857 H1.3|H1D|H1F3|MGC138176 H1 histone family, member 3|histone 1, H1d|histone 1, h1d|histone H1.3|histone H1c protein-coding 1345558 HIST1H1E histone cluster 1, H1e Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 1580863 15469825,17474147,17540172,19144645,18314153,17081983,16127177,15635413,15595731,15489334,14574404,12498347,12477932,12408966,9439656,9119399,8325638,7607502,3782055,1916825,20800603 3008 NM_005321,NG_001335,AF531302,AL353759,CH471087,M60748,AK313681,BC096168,BC096169,BC096170,BC099632,EF065554,EF065555 NP_005312,AAN06702,CAC04132,EAW55534,AAA63187,BAG36431,AAH96168,AAH96169,AAH96170,AAH99632,ABN72276,P10412,Q4VB24,ABN72277 Hs.248133 H1.4|H1E|H1F4|MGC116819|dJ221C16.5 H1 histone family, member 4|histone 1, H1e|histone 1, h1e|histone H1.4|histone H1b protein-coding 1348498 HIST1H1PS1 histone 1, H1, pseudogene 1 387325 1346974 HIST1H1PS2 histone cluster 1, H1, pseudogene 2 9119399,9031620,20966902 10338 NG_001335,X67080 H3FEP|pH3/e pseudo 737047 HIST1H1T histone cluster 1, H1t Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 20587610,19820698,1889752,17081983,15489334,12477932,12408966,10529182,9809674,9765591,9119399,8325638,8175896 3010 NM_005323,NG_001335,AF531301,CH471087,M60094,M97755,BC069517,BC130350 NP_005314,AAN06701,EAW55529,AAA35944,AAA19936,AAH69517,AAI30351,P22492,ABZ92491,ADR82850 Hs.533293 H1FT|H1t|MGC163222|dJ221C16.2 H1 histone family, member T (testis-specific)|histone 1, H1t|histone 1, h1t|histone H1t|testicular H1 histone protein-coding 1349225 HIST1H2AA histone cluster 1, H2aa Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq] 1580863 16702407,16359901,15823041,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11689053,11080476,9566873,17207965 221613 NM_170745,AL512384,AY131982,CH471087,BC062211 NP_734466,CAC44614,AAN59963,EAW55489,AAH62211,Q96QV6,ADQ32036 Hs.406739 H2AA|H2AFR|bA317E16.2 H2A histone family, member R|histone 1, H2aa|histone H2A type 1-A|histone H2A/r protein-coding 1345991 HIST1H2AB histone cluster 1, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 6647026,16702407,16359901,15823041,15635413,15386022,15078818,15010469,14993289,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,20379614,9149941 8335 NM_003513,NG_001335,AY131983,CH471087,X00089,Z83741,AK311785,BC125140,U91328 NP_003504,AAN59964,EAW55512,CAA24951,CAB06036,BAG34728,AAI25141,P04908,Q08AJ9,AAI66650 Hs.248174 H2A/m|H2AFM|HIST1H2AE H2A histone family, member M|histone 1, H2ab|histone 1, h2ab|histone H2A type 1-B/E|histone H2A.2|histone H2A/a|histone H2A/m protein-coding 1345959 HIST1H2AC histone cluster 1, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 1580863 16702407,16457589,16359901,16319397,15489334,15823041,15635413,15386022,15078818,15010469,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9149941,9119399,16169070,20085707 8334 NM_003512,NG_001335,AL353759,AY131984,CH471087,U91328,Z80778,AK311811,BC017379,BC050602,BC085010,U90551 NP_003503,AAN59965,EAW55532,EAW55533,AAB82086,CAB02540,BAG34754,AAB53429,Q93077 Hs.484950 H2A/l|H2AFL|MGC99519|dJ221C16.4 H2A histone family, member L|OTTHUMP00000016145|histone 1, H2ac|histone 1, h2ac|histone H2A type 1-C|histone H2A/l|histone H2AC protein-coding 1342566 HIST1H2AD histone cluster 1, H2ad Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 14657027,12477932,12408966,11689053,11080476,10384058,9566873,9439656,9119399 3013 NG_001335,AL031777,AY131985,CH471087,Z80776,AK312127,BC093807,BC093809,BC128035,CR541970,NM_021065,CR541999 NP_066409,CAB39197,AAN59966,EAW55542,CAB02538,BAG35063,AAH93807,AAH93809,AAI28036,CAG46768,CAG46796,P20671,ABZ92492 Hs.626666,Hs.679229 H2A.3|H2A/g|H2AFG|HIST1H3D H2A histone family, member G|histone 1, H2ad|histone 1, h2ad|histone H2A type 1-D|histone H2A.3|histone H2A/g|histone H2AD protein-coding 1353821 HIST1H2AE histone cluster 1, H2ae Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 14993289,16702407,16457589,16359901,16319397,15823041,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11709551,11689053,11080476,9566873,9439656,9325046,9119399,1916825 3012 NM_021052,NG_001335,AL031777,AY131986,CH471087,M60752,BC093836,BC093862 NP_066390,CAB39192,AAN59967,EAW55546,AAA63191,AAH93836,AAH93862,P04908,ABZ92493 Hs.121017 H2A.1|H2A.2|H2A/a|H2AFA|HIST1H2AB H2A histone family, member A|histone 1, H2ae|histone 1, h2ae|histone H2A type 1-B/E|histone H2A.2|histone H2A/a|histone H2A/m|histone H2AE protein-coding 1344301 HIST1H2AG histone cluster 1, H2ag Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,10384058,10064132,9566873,9439656,8179821,11799066,17980597,19571809 8969 NM_021064,NG_000827,AL021807,AY131987,CH471081,AK312124,BC016677,BC067782,L19778 NP_066408,CAA16948,AAN59968,EAX03083,BAG35060,AAH16677,AAC24466,P0C0S8,ABM81950,ABM85130,ABM85212 Hs.51011 H2A.1b|H2A/p|H2AFP|HIST1H2AI|HIST1H2AK|HIST1H2AL|HIST1H2AM|pH2A/f H2A histone family, member P|H2A.1|histone 1, H2ag|histone H2A type 1|histone H2A/p protein-coding 1349795 HIST1H2AH histone cluster 1, H2ah Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq] 1580863 17074886,16702407,16359901,16319397,15823041,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11689053,11080476,10384058,10064132,9566873 85235 NM_080596,NG_000827,AL021807,AY131988,CH471081,AK312232,BC093849,BC093851,BC134366,BC148293 NP_542163,CAA16944,AAN59969,EAX03087,BAG35165,AAH93849,AAH93851,AAI34367,AAI48294,Q96KK5,AAI41470 Hs.352225 H2A/S|H2AFALii|MGC171151|dJ86C11.1 H2A histone family member|histone 1, h2ah|histone H2A type 1-H|histone H2A/s protein-coding 1346479 HIST1H2AI histone cluster 1, H2ai Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,10064132,9566873,9439656 8329 NM_003509,NG_000009,AL009179,AY131989,CH471081,Z83742,AK311766,BC112254,BC112256 NP_003500,CAA15669,AAN59970,EAX03107,CAB06037,BAG34709,AAI12255,AAI12257,P0C0S8,ABZ92494 Hs.534035 FLJ92027|H2A/c|H2AFC|HIST1H2AG|HIST1H2AK|HIST1H2AL|HIST1H2AM H2A histone family, member C|H2A.1|histone 1, H2ai|histone 1, h2ai|histone H2A type 1|histone H2A/p protein-coding 1342935 HIST1H2AJ histone cluster 1, H2aj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 14657027,12477932,12408966,11790298,11689053,11080476,10064132,9566873,9439656,8814229,17207965 8331 NM_021066,NG_000009,AL049822,AY131990,CH471081,Z83736,BC066232,BC066233,BC066234,BC066235,BC066236,BC066237,BC133048,BC133050 NP_066544,CAB81656,AAN59971,EAX03109,CAB06031,AAH66232,AAH66233,AAH66234,AAH66235,AAH66236,AAH66237,AAI33049,AAI33051,ADQ31933 Hs.406691 H2A/E|H2AFE|dJ160A22.4 H2A histone family, member E|histone 1, H2aj|histone 1, h2aj|histone cluster 1, H2aj protein-coding 1312612 HIST1H2AK histone cluster 1, H2ak Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 16702407,16457589,16359901,16319397,15823041,15635413,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11689053,11080476,10064132,9566873,9439656 8330 NM_003510,NG_000009,AY131991,CH471081,Z83739,Z98744,AK311941,BC034487,BC104198,BC104199 NP_003501,AAN59972,EAX03113,CAB06034,CAB11417,BAG34882,AAH34487,AAI04199,AAI04200,P0C0S8,Q99878 Hs.558421 H2A/d|H2AFD|HIST1H2AG|HIST1H2AJ|HIST1H2AL|HIST1H2AM H2A histone family, member D|H2A.1|histone 1, H2ak|histone 1, h2ak|histone H2A type 1|histone H2A type 1-J|histone H2A/e|histone H2A/p protein-coding 1319217 HIST1H2AL histone cluster 1, H2al Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 14657027,12489984,12477932,12408966,11689053,11080476,10064132,10022855,9651585,9566873,9439656,9031620,1989977,17207965 8332 NM_003511,NG_000009,AY131992,CH471081,X83549,Z98744,BC069306,BC112072 ADQ32946,NP_003502,AAN59973,EAX03118,CAA58539,CAD24073,AAH69306,AAI12073,P0C0S8 Hs.233568 H2A.i|H2A/i|H2AFI|HIST1H2AG|HIST1H2AI|HIST1H2AK|HIST1H2AM|dJ193B12.9 H2A histone family, member I|H2A.1|histone 1, H2al|histone 1, H2am|histone 1, h2al|histone H2A type 1|histone H2A/p protein-coding 1323073 HIST1H2AM histone cluster 1, H2am Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 16702407,16457589,16359901,16319397,15823041,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11709551,11689053,11080476,10064132,9566873,9439656,8179821,7410338,1768865 8336 NM_003514,NG_000009,AY131993,CH471081,X57138,BC032756,Z98744 NP_003505,AAN59974,EAX03123,CAA40417,P0C0S8,ABM82113,ABM85296,ADR82801,CAD24077 Hs.134999 H2A.1|H2A/n|H2AFN|HIST1H2AG|HIST1H2AI|HIST1H2AK|HIST1H2AL|dJ193B12.1 H2A histone family, member N|histone 1, H2am|histone 1, h2am|histone H2A type 1|histone H2A/p protein-coding 1343258 HIST1H2APS1 histone 1, H2a, pseudogene 1 387319 1344934 HIST1H2APS2 histone cluster 1, H2a, pseudogene 2 10384058 85303 NG_002685,AF098457,AL138726 H2A/T|H2AFTP|dJ139G21.2 histone 1, h2a, pseudogene 2 pseudo 1348318 HIST1H2APS3 histone 1, H2a, pseudogene 3 387323 1348354 HIST1H2APS4 histone cluster 1, H2a, pseudogene 4 9119399 8333 NG_001335,AL031777,Z80777 CAB02539,Q92646 H2A/k|H2AFK|H2AFKP|dJ34B20.2|pH2A/k histone 1, h2a, pseudogene 4 pseudo 1344950 HIST1H2APS5 histone cluster 1, H2a, pseudogene 5 8227173 10341 NG_001335,X57131 H2AFFP|pH2A/f pseudo 1352004 HIST1H2BA histone cluster 1, H2ba Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq] 1580863 16916647,16713563,16307923,16283522,15709765,15489334,14657027,14574404,12477932,12408966,12213818,11689053,11080476,9566873,8565853,12786946 255626 NM_170610,AF397301,AF531284,AL512384,CH471087,AK312055,BC066238,BC066239,BC066240,BC066241,BC066242,BC066243 NP_733759,AAK84040,AAN06684,CAC44615,EAW55490,BAG34991,AAH66238,AAH66239,AAH66240,AAH66241,AAH66242,AAH66243,Q96A08 Hs.591786 H2BFU|STBP|TSH2B|bA317E16.3 H2B histone family, member U, (testis-specific)|histone 1, H2ba|histone H2B type 1-A|histone H2B, testis|testis-specific histone H2B protein-coding 1343461 HIST1H2BB histone cluster 1, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 9439656,16916647,16713563,16319397,16307923,16283522,15489334,14993289,14657027,12757711,12477932,12408966,11709551,11689053,11080476,9566873,9119399,8227173,1916825 3018 NM_021062,NG_001335,AF531285,CH471087,X57127,BC096728 NP_066406,AAN06685,EAW55513,CAA40406,AAH96728,P33778,ABZ92495 Hs.553494 H2B.1|H2B/f|H2BFF|MGC119804 H2B histone family, member F|histone 1, H2bb|histone 1, h2bb|histone H2B type 1-B|histone H2B.1|histone H2B.f protein-coding 1344863 HIST1H2BC histone cluster 1, H2bc Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 422550,9119399,17353931,14657027,12477932,12408966,11689053,11080476,9566873,9439656,19414484 8347 NM_003526,NG_001335,AF531286,AL353759,CH471087,Z80783,BC009612,BC105595,BC106899 NP_003517,AAN06686,CAC04130,EAW55530,EAW55531,CAB02545,AAI05596,AAI06900,P62807,AAI60109 Hs.726509,Hs.658713 H2B.1|H2B/a|H2B/g|H2B/h|H2B/k|H2B/l|H2BFL|HIST1H2BE|HIST1H2BF|HIST1H2BG|HIST1H2BI|MGC104246|dJ221C16.3 H2B histone family, member L|OTTHUMP00000016141|histone 1, H2bc|histone 1, h2bc|histone H2B type 1-C/E/F/G/I|histone H2B.1 A|histone H2B.a|histone H2B.g|histone H2B.h|histone H2B.k|histone H2B.l protein-coding 1316135 HIST1H2BD histone cluster 1, H2bd Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 16916647,16713563,16627869,16457587,16319397,16307923,16283522,15635413,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,9710638,9566873,9439656,9119399,1916825 3017 NM_021063,NM_138720,NG_001335,AF531287,AL353759,CH471087,M60751,AJ223353,AK292712,BC002842,BC096122 NP_066407,NP_619790,AAN06687,CAC04133,EAW55535,EAW55536,AAA63190,CAA11277,BAF85401,AAH02842,AAH96122,P58876 Hs.591797 H2B.1B|H2B/b|H2BFB|HIRIP2|MGC90432|dJ221C16.6 H2B histone family, member B|HIRA-interacting protein 2|OTTHUMP00000016143|histone 1, H2bd|histone 1, h2bd|histone H2B type 1-D|histone H2B.1 B|histone H2B.b protein-coding 1350317 HIST1H2BE histone cluster 1, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 11689053,11080476,9566873,9439656,9119399,1768865,422550,16916647,16713563,16627869,16319397,16307923,16283522,15489334,14657027,14574404,12757711,12477932,12408966 8344 NM_003523,NG_001335,AF531288,AL353759,CH471087,Z80780,BC101748,BC101750 NP_003514,AAN06688,EAW55537,CAB02542,AAI01749,AAI01751,P62807,ABZ92496 Hs.534369 H2B.h|H2B/a|H2B/g|H2B/h|H2B/k|H2B/l|H2BFH|H2BFN|HIST1H2BC|HIST1H2BF|HIST1H2BG|HIST1H2BI|dJ221C16.8 H2B histone family, member H|histone 1, H2be|histone 1, h2be|histone H2B type 1-C/E/F/G/I|histone H2B.1 A|histone H2B.a|histone H2B.g|histone H2B.h|histone H2B.k|histone H2B.l protein-coding 1346859 HIST1H2BF histone cluster 1, H2bf Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,10064132,9566873,9439656,9119399,422550 8343 NM_003522,NG_001335,AF531289,AL031777,CH471087,Z80779,BC056264,BC096120,BC096123 NP_003513,AAN06689,EAW55543,CAB02541,AAH96120,AAH96123,P62807 Hs.182137 H2B/a|H2B/g|H2B/h|H2B/k|H2B/l|H2BFG|HIST1H2BC|HIST1H2BE|HIST1H2BG|HIST1H2BI H2B histone family, member G|histone 1, H2bf|histone 1, h2bf|histone H2B type 1-C/E/F/G/I|histone H2B.1 A|histone H2B.a|histone H2B.g|histone H2B.h|histone H2B.k|histone H2B.l protein-coding 1346575 HIST1H2BG histone cluster 1, H2bg Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 16916647,16713563,16627869,16457587,16319397,16307923,16283522,15489334,15019208,14657027,14595808,14574404,12860195,12757711,12477932,12408966,11859126,11790298,11689053,11080476,9973324,9566873,9439656,9119399,8814229,8620898,1916825,422550 8339 NM_003518,NG_001335,AF531290,AL031777,CH471087,M60750,AK311935,BC082232 NP_003509,AAN06690,CAC03411,CAC03417,CAC03420,EAW55545,AAA63189,BAG34876,P62807,ABZ92497 Hs.591809 H2B.1A|H2B/a|H2B/g|H2B/h|H2B/k|H2B/l|H2BFA|HIST1H2BC|HIST1H2BE|HIST1H2BF|HIST1H2BI|dJ221C16.8 H2B histone family, member A|histone 1, H2bf|histone 1, H2bg|histone 1, H2bi|histone 1, h2bg|histone H2B type 1-C/E/F/G/I|histone H2B.1 A|histone H2B.a|histone H2B.g|histone H2B.h|histone H2B.k|histone H2B.l protein-coding 1343164 HIST1H2BH histone cluster 1, H2bh Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 1580863 9119399,16916647,16713563,16627869,16457587,16319397,16307923,16283522,14657027,14574404,12757711,12477932,12408966,11689053,11080476,9566873,9439656 8345 NM_003524,NG_001335,AF531291,AL031777,CH471087,Z80781,AK312052,BC096116,BC096117,BC096118,BC096119 NP_003515,AAN06691,CAB39185,EAW55552,CAB02543,BAG34988,AAH96116,AAH96117,AAH96118,AAH96119,Q93079 Hs.247815 H2B/j|H2BFJ H2B histone family, member J|histone 1, H2bh|histone 1, h2bh|histone H2B type 1-H|histone H2B.j protein-coding 1312785 HIST1H2BI histone cluster 1, H2bi Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 20442396,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,20800603 8346 NM_003525,NG_001335,AF531292,AL031777,CH471087,Z80782,BC101653,BC101655 NP_003516,AAN06692,EAW55554,CAB02544,AAI01654,AAI01656,P62807,ABZ92498 Hs.553506 H2B/a|H2B/g|H2B/h|H2B/k|H2B/l|H2BFK|HIST1H2BC|HIST1H2BE|HIST1H2BF|HIST1H2BG H2B histone family, member K|histone 1, H2bi|histone 1, h2bi|histone H2B type 1-C/E/F/G/I|histone H2B.1 A|histone H2B.a|histone H2B.g|histone H2B.h|histone H2B.k|histone H2B.l protein-coding 1348596 HIST1H2BJ histone cluster 1, H2bj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq] 1580863 19571809,11799066,6647026,19084217,16916647,16713563,16627869,16319397,16307923,16283522,15019208,14657027,14574404,12860195,12757711,12686141,12477932,12408966,11859126,11709551,11689053,11080476,10384058,10064132,9566873,9439656,8620898,2917990 8970 NM_021058,NG_000827,AF531293,AL021807,CH471081,X00088,AK311849,BC014312 NP_066402,AAN06693,CAA16949,EAX03080,EAX03081,EAX03082,CAA24950,BAG34791,P06899 Hs.591807,Hs.656567 H2B/r|H2BFR H2B histone family, member R|histone 1, H2bj|histone H2B type 1-J|histone H2B.1|histone H2B.r protein-coding 1353528 HIST1H2BK histone cluster 1, H2bk Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq] 1580863 16916647,16713563,16627869,16457587,16319397,16307923,16283522,15951514,15635413,15489334,15019208,14657027,14574404,12860195,12757711,12477932,12408966,11859126,11689053,11080476,10384058,10064132,9710638,9566873,8620898,1768865,16344560 85236 NM_080593,NG_000827,AF531294,AL021807,CH471081,AJ223352,AK292062,BC000893,BC051872,BC064959,BC108737,DA873786 NP_542160,AAN06694,CAA16945,EAX03084,EAX03085,CAA11276,BAF84751,AAH00893,AAH51872,AAH64959,AAI08738,O60814,ABZ92499 Hs.437275,Hs.689116 H2B/S|H2BFAiii|H2BFT|MGC131989 H2B K|H2B histone family, member T|HIRA-interacting protein 1|OTTHUMP00000016177|histone 1, H2bk|histone H2B type 1-K|histone family member protein-coding 1316667 HIST1H2BL histone cluster 1, H2bl Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 9439656,16916647,16713563,16627869,16319397,16307923,16283522,15635413,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,10064132,9566873,20800603,19615732 8340 NM_003519,NG_000009,AF531295,AL009179,CH471081,Z83740,AK312114,BC093759,BC093761 NP_003510,AAN06695,CAA15668,EAX03106,CAB06035,BAG35050,Q99880,ABZ92500 Hs.137594 H2B/c|H2BFC|dJ97D16.4 H2B histone family, member C|histone 1, H2bl|histone 1, h2bl|histone H2B type 1-L|histone H2B.c protein-coding 1346747 HIST1H2BM histone cluster 1, H2bm Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 9439656,16916647,16713563,16457587,16319397,16307923,16283522,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,10064132,9566873 8342 NM_003521,NG_000009,AF531296,AL049822,CH471081,Z83738,BC066244,BC067485,BC067486,BC067487,BC067488,BC067489 NP_003512,AAN06696,CAB81655,EAX03110,CAB06033,AAH66244,AAH67485,AAH67486,AAH67487,AAH67488,AAH67489,Q0D2M2,Q99879 Hs.182432 H2B/e|H2BFE|dJ160A22.3 H2B histone family, member E|histone 1, H2bm|histone 1, h2bm|histone H2B type 1-M|histone H2B.e protein-coding 1317658 HIST1H2BN histone cluster 1, H2bn Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 9439656,16916647,16713563,16627869,16307923,16283522,16189514,15635413,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,10064132,9566873 8341 BC101413,NG_000009,AF531297,CH471081,Z83336,Z98744,AK312228,BC009783,BC011372,BC101411,BC101412,NM_003520 AAI01414,Q99877,ABM81954,ABM85133,NP_003511,AAN06697,EAX03114,EAX03115,EAX03116,EAX03117,CAB05938,CAB11418,BAG35161,AAI01412,AAI01413 Hs.534368,Hs.673851 H2B/d|H2BFD|HIST1H3I|MGC125414|MGC125415|MGC125416|MGC9388 H2B histone family, member D|histone 1, H2bn|histone 1, h2bn|histone H2B type 1-N|histone H2B.d protein-coding 1343166 HIST1H2BO histone cluster 1, H2bo Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 12477932,12408966,11689053,11080476,9566873,9439656,1768865,16916647,16713563,16627869,16319397,16307923,16283522,15635413,15489334,14657027,14574404,12757711,20085707 8348 NM_003527,NG_000009,AF531298,CH471081,X57138,BC106720,Z98744 NP_003518,AAN06698,EAX03124,CAA40416,AAI06721,P23527,ABZ92501,CAD24078 Hs.673856 H2B.2|H2B/n|H2BFN|MGC119806|dJ193B12.2 H2B histone family, member N|histone 1, H2bo|histone 1, h2bo|histone H2B type 1-O|histone H2B.2|histone H2B.n protein-coding 1344705 HIST1H2BPS1 histone 1, H2b, pseudogene 1 387318,100288742 AL512384,NG_027974 H2BFVP|bA317E16.4 pseudo 1348661 HIST1H2BPS2 histone cluster 1, H2b, pseudogene 2 9031620 10340 NG_000009,X83547 H2BFIP|pH2B.i|pH2B/i pseudo 1345402 HIST1H3A histone cluster 1, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 16829959,16829960,16858404,16946699,16956976,17041588,17043108,17048991,17050672,17207965,19567704,19624289,19729656,19801601,19808672,14993289,14657027,14595808,12823900,12477932,12408966,11882902,11791185,11689053,11242053,11080476,10975519,10949293,10384058,9566873,9439656,9119399,1916825,19172748,20084102,20167597,20208542,17210640,19834512 8350 NM_003529,NG_001335,AF531274,CH471087,Z46261,BC066245,BC066246,BC066247,BC067490,BC067491,BC069303,CR541858 ADQ32889,NP_003520,AAN10051,EAW55508,CAA86403,AAH66245,AAH66246,AAH66247,AAH67490,AAH67491,AAH69303,CAG46656,P68431 Hs.546315 H3/A|H3FA|HIST1H3B|HIST1H3C|HIST1H3D|HIST1H3E|HIST1H3F|HIST1H3G|HIST1H3H|HIST1H3I|HIST1H3J H3 histone family, member A|histone 1, H3a|histone 1, h3a|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1347747 HIST1H3B histone cluster 1, H3b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 20442396,14574404,12560483,12477932,12408966,11856369,11791185,11689053,11242053,11080476,10975519,10464286,9566873,9119399,9031620,8227173,7309716,6647026,3013246,1916825,9439656,20920473,17194708,17189264,16916647,16678110,16627869,16497732,16457588,16372014,16267050,16246723,16185088,15983376,15951514,15684425,15681610,15525939,15489334,15471871,15345777,14657027,15664198,17081972,20379614,20864036,19279000,20587610 8358 NM_003537,NG_001335,AF531275,CH471087,M26150,X00090,BC069133,BC096132,BC096133,BC096134,BC099630 NP_003528,AAN10052,EAW55511,AAA52651,CAA24952,AAH69133,AAH96132,AAH96133,AAH96134,AAH99630,P68431 Hs.533292 H3/l|H3FL|HIST1H3A|HIST1H3C|HIST1H3D|HIST1H3E|HIST1H3F|HIST1H3G|HIST1H3H|HIST1H3I|HIST1H3J H3 histone family, member L|histone 1, H3b|histone 1, h3b|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1348947 HIST1H3C histone cluster 1, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 12408966,11882902,11791185,11689053,15282608,14657027,12842904,12477932,11242053,11080476,10975519,10759893,9566873,9439656,9119399,8227173 8352 NM_003531,NG_001335,AF531276,CH471087,X57128,BC058834,BC127610 NP_003522,AAN10053,EAW55514,CAA40407,AAI27611,P68431,AAI60079 Hs.248176 H3.1|H3/c|H3FC|HIST1H3A|HIST1H3B|HIST1H3D|HIST1H3E|HIST1H3F|HIST1H3G|HIST1H3H|HIST1H3I|HIST1H3J H3 histone family, member C|histone 1, H3c|histone 1, h3c|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1349026 HIST1H3D histone cluster 1, H3d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 14702039,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8351 NM_003530,NG_001335,AF531277,AL031777,CH471087,Z80784,AK316611,BC031333,BQ051491 NP_003521,AAN10054,CAC03412,EAW55539,CAB02546,BAG38198,AAH31333,ABM83721,ABM87041 Hs.532144 H3/b|H3FB H3 histone family, member B|OTTHUMP00000016149|histone 1, H3d|histone 1, h3d|histone cluster 1, H3d protein-coding 1351707 HIST1H3E histone cluster 1, H3e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 17052464,15664198,14657027,12477932,12408966,11689053,11080476,9566873,9439656,1916825,9119399,19919681,17355966,19034380,19797895,20223770 8353 NG_001335,AF531278,AL031777,CH471087,M60746,CR542014,NM_003532 NP_003523,AAN10055,CAC03413,EAW55547,AAA63185,CAG46811,P68431,ABZ92502 Hs.443021,Hs.586261 H3.1|H3/d|H3FD|HIST1H3A|HIST1H3B|HIST1H3C|HIST1H3D|HIST1H3F|HIST1H3G|HIST1H3H|HIST1H3I|HIST1H3J H3 histone family, member D|histone 1, H3e|histone 1, h3e|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1343932 HIST1H3F histone cluster 1, H3f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 20089855,20213041,10949293,11242053,11791185,16415881,17353931,14657027,12823900,12540855,12477932,12408966,11689053,11080476,10975519,9566873,9439656,9119399,1916825 8968 NM_021018,NG_001335,AF531279,AL031777,CH471087,Z80786,AK314142,BC062305,BC067492,BC069818,BC096131,CR541983,CR542011 NP_066298,AAN10056,CAC03416,EAW55551,CAB02548,BAG36832,AAH67492,AAH69818,AAH96131,CAG46780,CAG46808,P68431 Hs.247814 H3/i|H3FI|HIST1H3A|HIST1H3B|HIST1H3C|HIST1H3D|HIST1H3E|HIST1H3G|HIST1H3H|HIST1H3I|HIST1H3J H3 histone family, member I|histone 1, H3f|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1346430 HIST1H3G histone cluster 1, H3g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 16189514,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8355 NM_003534,NG_001335,AF531280,AL031777,CH471087,Z80785,BC012185,BC079835 NP_003525,AAN10057,CAC03421,EAW55553,CAB02547,P68431,ABZ92503 Hs.247813 H3/h|H3FH|HIST1H3A|HIST1H3B|HIST1H3C|HIST1H3D|HIST1H3E|HIST1H3F|HIST1H3H|HIST1H3I|HIST1H3J H3 histone family, member H|histone 1, H3g|histone 1, h3g|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1345148 HIST1H3H histone cluster 1, H3h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 16189514,14657027,12477932,12408966,11689053,11080476,9566873,9439656 8357 NM_003536,NG_000009,AF531281,AL009179,CH471081,Z83735,AK311991,BC096128,BC096129,BC096130,BC143046,BC148243,BC148250,BC007518 NP_003527,AAN10058,CAA15670,EAX03108,CAB06030,BAG34929,AAH96128,AAH96129,AAH96130,AAI43047,AAI48244,AAI48251,P68431,ABZ92504 Hs.591778 FLJ92264|H3/k|H3F1K|H3FK|HIST1H3A|HIST1H3B|HIST1H3C|HIST1H3D|HIST1H3E|HIST1H3F|HIST1H3G|HIST1H3I|HIST1H3J H3 histone family, member K|histone 1, H3h|histone 1, h3h|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1322682 HIST1H3I histone cluster 1, H3i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 17668447,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9031620 8354 NM_003533,NG_000009,AF531282,CH471081,X83550,Z98744,BC066884,BC067493,BC067494,BC069305,AK313905 NP_003524,AAN10059,EAX03120,CAA58540,CAB11424,AAH66884,AAH67493,AAH69305,P68431,BAG36628 Hs.132854,Hs.586261 H3.f|H3/f|H3FF|HIST1H3A|HIST1H3B|HIST1H3C|HIST1H3D|HIST1H3E|HIST1H3F|HIST1H3G|HIST1H3H|HIST1H3J H3 histone family, member F|histone 1, H3i|histone 1, h3i|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1349112 HIST1H3J histone cluster 1, H3j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,11076863,9566873,9439656 8356 NM_003535,NG_000009,AF531283,CH471081,Z83737,Z98744 NP_003526,AAN10060,EAX03122,CAB06032,CAD24076,P68431,AAI11922,ADR82713 Hs.484990 H3/j|H3FJ|HIST1H3A|HIST1H3B|HIST1H3C|HIST1H3D|HIST1H3E|HIST1H3F|HIST1H3G|HIST1H3H|HIST1H3I H3 histone family, member J|histone 1, H3j|histone 1, h3j|histone H3.1|histone H3/a|histone H3/b|histone H3/c|histone H3/d|histone H3/f|histone H3/h|histone H3/i|histone H3/j|histone H3/k|histone H3/l protein-coding 1348994 HIST1H3PS1 histone 1, H3, pseudogene 1 387324 1315697 HIST1H4A histone cluster 1, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 15864311,14657027,12628926,12477932,12408966,11689053,11310559,11080476,9710638,9566873,9439656,9119399,3035717,17148447,19862764,20129055,20167597 8359 AY128654,CH471087,X60481,BC066248,BC066249,BC067495,BC069654,NM_003538,NG_001335 AAN01439,EAW55509,CAA43011,AAH66248,AAH66249,AAH67495,AAH69654,P62805,ABZ92505,NP_003529 Hs.248178 H4/a|H4FA|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4 H4 histone family, member A|histone 1, H4a|histone 1, h4a|histone H4 protein-coding 1342856 HIST1H4B histone cluster 1, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,1916825,17207965 8366 NM_003544,NG_001335,AY128655,CH471087,X67081,BC069467 NP_003535,AAN01440,EAW55510,CAA47464,AAH69467,P62805,ADQ32864 Hs.143080 H4/I|H4FI|HIST1H4A|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4 H4 histone family, member I|histone 1, H4b|histone 1, h4b|histone H4 protein-coding 1352928 HIST1H4C histone cluster 1, H4c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,7626218,15556009,20800603,20587610 8364 NM_003542,NG_001335,AY128656,CH471087,X60486,BC054014,BC130558,BC130560 NP_003533,AAN01441,EAW55528,CAA43016,AAH54014,AAI30559,AAI30561,P62805,ABZ92506 Hs.46423 H4/g|H4FG|HIST1H4A|HIST1H4B|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4|dJ221C16.1 H4 histone family, member G|histone 1, H4c|histone 1, h4c|histone H4 protein-coding 1347367 HIST1H4D histone cluster 1, H4d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 15504738,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,3035717 8360 NM_003539,NG_001335,AL353759,AY128657,CH471087,X60482,BC128104,BC143045 NP_003530,CAC04128,AAN01442,EAW55538,CAA43012,AAI28105,AAI43046,P62805,AAI56843 Hs.248179 H4/b|H4FB|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4|dJ221C16.9 H4 histone family, member B|histone 1, H4d|histone 1, h4d|histone H4 protein-coding 1316645 HIST1H4E histone cluster 1, H4e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8367 NM_003545,NG_001335,AL031777,AY128658,CH471087,Z80787,BC012587,BC056868,CR542180,CR542189,BC050615 NP_003536,CAC03414,AAN01443,EAW55544,CAB02549,CAG46977,CAG46986,P62805,ABZ92507 Hs.662174 H4/j|H4FJ|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4 H4 histone family, member J|histone 1, H4e|histone 1, h4e|histone H4 protein-coding 1354264 HIST1H4F histone cluster 1, H4f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 15601853,15504738,15282608,14657027,12842904,12628926,12477932,12408966,11689053,11080476,10759893,9566873,9439656,9119399,3035717,1916825 8361 NM_003540,NG_001335,AL031777,AY128659,CH471087,M60749,BC069288,BC093763,BC093765 NP_003531,CAC03418,AAN01444,EAW55549,AAA63188,AAH69288,AAH93763,AAH93765,P62805,ABM83531,ABM86771 Hs.247816 H4|H4/c|H4FC|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4 H4 histone family, member C|histone 1, H4f|histone 1, h4f|histone H4 protein-coding 1350829 HIST1H4G histone cluster 1, H4g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 1580863 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8369 NM_003547,NG_001335,AL031777,AY128660,CH471087,Z80788,BC126276,BC126278 NP_003538,CAB39187,AAN01445,EAW55550,CAB02550,AAI26277,AAI26279,Q99525,ADR82789 Hs.553507 H4/l|H4FL H4 histone family, member L|histone 1, H4g|histone 1, h4g|histone H4-like protein type G protein-coding 1314497 HIST1H4H histone cluster 1, H4h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8365 NM_003543,NG_001335,AL021917,AY128661,CH471087,X60487,BC120939,CR542169,CR542187,BC010926 NP_003534,CAC69642,AAN01446,EAW55555,EAW55556,CAA43017,AAI20940,CAG46966,CAG46984,P62805,ABM83716,ABM87036 Hs.591790 H4/h|H4FH|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4 H4 histone family, member H|OTTHUMP00000016169|histone 1, H4h|histone 1, h4h|histone H4 protein-coding 1342673 HIST1H4I histone cluster 1, H4i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq] 17081983,16916647,16807684,16678110,15782174,15504738,15489334,14657027,14574404,12477932,12408966,11689053,11080476,10384058,10064132,9566873,9439656,9119399,9031620,8988030,7626218,6314274,3340182,3035717,2474456,1916825,17207965 8294 NG_000827,AB000905,AL021807,AY128662,CH471081,BC066250,BC067496,BC067497,CR599017,NM_003495,BC016336,BC075806 NP_003486,BAA19208,CAA16946,AAN01447,EAX03086,AAH66250,AAH67496,AAH67497,P62805,ADQ33135 Hs.248172 H4/m|H4FM|H4M|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4 H4 histone family, member M|Histone 4 family, member M|histone 1, H4i|histone 1, h4i|histone H4|histone family member protein-coding 1315785 HIST1H4J histone cluster 1, H4j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,9566873,9439656,6265100 8363 NM_021968,NG_000009,AL049822,AY128663,CH471081,X60484,BC017361,BC148271 NP_068803,CAC03427,AAN01448,EAX03111,CAA43014,AAH17361,AAI48272,P62805,AAI40250,AAI46524 Hs.278483 H4/e|H4F2iv|H4FE|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4|MGC166960|MGC29783|dJ160A22.2 H4 histone family, member E|histone 1, H4j|histone 1, h4j|histone H4 protein-coding 1349552 HIST1H4K histone cluster 1, H4k Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 14657027,12408966,11689053,11080476,9566873,9439656 8362 NM_003541,NG_000009,AL049822,AY128664,CH471081,X60483 NP_003532,CAC03426,AAN01449,EAX03112,CAA43013,P62805,AAI48486,AAI53082 Hs.528055 H4/d|H4F2iii|H4FD|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4L|HIST2H4A|HIST2H4B|HIST4H4|dJ160A22.1 H4 histone family, member D|histone 1, H4k|histone 1, h4k|histone H4 protein-coding 1318739 HIST1H4L histone cluster 1, H4l Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9031620,17207965 8368 NM_003546,NG_000009,AY128665,CH471081,X83548,Z98744,BC069392 NP_003537,AAN01450,EAX03121,CAA58538,CAD24074,AAH69392,P62805,ADQ32876 Hs.533295 H4.k|H4/k|H4FK|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST2H4A|HIST2H4B|HIST4H4 H4 histone family, member K|histone 1, H4l|histone 1, h4l|histone H4 protein-coding 1348139 HIST1H4PS1 histone cluster 1, H4, pseudogene 1 9439656 10337 NG_000009,AL009179,X60485 H4FFP|dJ97D16.3|pH4/f pseudo 1316194 HIST2H2AA3 histone cluster 2, H2aa3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq] 8543049,8179821,6326092,2071153,12628926,16710414,16702407,16457589,16359901,16319397,15823041,15635413,15527963,15489334,15386022,15078818,15010469,14759373,14657027,12477932,12408966,11689053,11375490,11181995,11080476,9566873,9439656,8858345,19615732 8337 NM_003516,NG_005594,AL591493,AY131971,CH878687,K01889,BC001629,BC019308,BC096705,BC096739,BC098171,CR536525,CR541872,L19779,AK312163 NP_003507,CAI12562,AAN59957,EAW50859,AAA35945,AAH96705,AAH96739,AAH98171,CAG38762,CAG46670,AAC24465,Q6FI13,AAI52788,BAG35097 Hs.530461,Hs.706714 H2A|H2A.2|H2A/O|H2A/q|H2AFO|H2a-615|HIST2H2AA|HIST2H2AA4 H2A histone family, member O|histone 2, H2aa3|histone 2, h2aa|histone H2A type 2-A|histone H2A.2|histone H2A/o protein-coding 1604408 HIST2H2AA4 histone cluster 2, H2aa4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq] 15527963,12477932,12408966,8179821,2071153 723790 NM_001040874,NG_005594,AL591493,BC001629,BC019308,BC096705,BC096739,BC098171,CR536525,CR541872,L19779,AK312163 NP_001035807,CAI12565,AAH96705,AAH96739,AAH98171,CAG38762,CAG46670,AAC24465,ACE87167,ACE86486,Q6FI13,BAG35097 Hs.706714 H2A/R|HIST2H2AA3 histone 2, H2aa4|histone H2A type 2-A|histone H2A.2|histone H2A/o|histone H2A/r|histone cluster 2, H2aa4 protein-coding 1350646 HIST2H2AB histone cluster 2, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq] 1580863 16710414,16702407,16359901,15823041,15386022,15078818,15010469,14657027,12408966,11689053,11080476,9566873,11927591,16712789 317772 AL591493,AY131972,CH471121,NM_175065 NP_778235,CAI12570,AAN59958,EAW53603,Q8IUE6,AAI72330 Hs.664173 histone 2, H2ab|histone H2A type 2-B protein-coding 1353344 HIST2H2AC histone cluster 2, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. [provided by RefSeq] 1580863 9439656,1469070,9447982,11927591,19385636,18593899,18206972,16710414,16702407,16473935,16457589,16359901,16319397,15823041,15527963,15489334,15386022,15078818,15010469,14657027,12786946,12628926,12477932,12408966,12072557,11689053,11080476,10096020,9566873,16714294,17179179,19203578,11073993,19500350,19667409 8338 NM_003517,AL591493,AY131973,AY648852,CH471121,X57985,BC060324 NP_003508,CAI12569,AAN59959,AAT68255,EAW53604,CAA41050,AAH60324,Q16777,ABZ92508 Hs.408067 H2A|H2A-GL101|H2A/q|H2AFQ|MGC74460 H2A histone family, member Q|histone 2, H2ac|histone H2A type 2-C|histone H2A-GL101|histone H2A/q|histone IIa protein-coding 1345343 HIST2H2BA histone cluster 2, H2ba 12477932,12408966,20194426 337875 NR_027337,AL357493,AY131975,BC106916,BC126904 Hs.585427 MGC126029|MGC126031 pseudo 1344053 HIST2H2BB histone cluster 2, H2bb 12408966,20194426 338391 NG_002652,AL357493,AY131976 histone 2, h2bb pseudo 1354148 HIST2H2BC histone cluster 2, H2bc 16916647,16283522,15527963,12757711,12408966,20194426 337873 AL591493,AY131977,AY656810,AY648853,NR_036461,AK299891,NG_005594 AAT68256,AAT72343,BAH13163 Hs.666643 H2B/t|HIST2H2BD pseudo 1350930 HIST2H2BD histone cluster 2, H2bd 16916647,16283522,15527963,12757711,12408966,6326092,20194426 337874 NG_005594,AL591493,AY131978,AY648853 Q6DRA6 H2B/o|H2B/s|H2BFO pseudo 1343213 HIST2H2BE histone cluster 2, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq] 1580863 1469070,17353931,19425504,18682386,18206972,17074886,16916647,16713563,16710414,16627869,16457587,16307923,16283522,15635413,15601853,15489334,15019208,14702039,14657027,12888554,12860195,12786946,12757711,12628926,12489984,12477932,12408966,11859126,11824786,11689053,11375490,11310559,11266453,11241673,11080476,10821277,10022855,9973324,9973250,9748265,9724719,9710638,9651585,9566873,9325046,8620898,8180162,1993178,18206970,17179179,20936779,17938195,19410543,17207965 8349 BC107084,BC107085,CR541895,CR615793,M60756,AL591493,AY131979,CH471121,X57985,AK093747,AK289725,BC005827,BC069193,BC096121,BC098112,BC098289,NM_003528 AAA63192,Q16778,AAH98289,AAI07085,AAI07086,CAG46693,NP_003519,CAI12568,AAN59961,EAW53605,CAA41051,BAF82414,AAH05827,AAH69193,AAH96121,AAH98112,ADQ32024 Hs.2178 GL105|H2B|H2B.1|H2BFQ|H2BGL105|H2BQ|MGC119802|MGC119804|MGC129733|MGC129734 H2B histone family, member Q|histone 2, H2be|histone 2, h2be|histone H2B type 2-E|histone H2B-GL105|histone H2B.q protein-coding 1603451 HIST2H2BF histone cluster 2, H2bf 16916647,16713563,16710414,16344560,16319397,16307923,16283522,15489334,14702039,12757711,12477932 440689 NM_001024599,NM_001161334,AL591493,AK092418,AK289664,AK296916,AK299108,BC110793,DA042901 NP_001019770,NP_001154806,CAI12558,BAC03883,BAF82353,BAG59471,BAG61164,AAI10794,Q5QNW6,Q8NAM9 Hs.726907 FLJ35099|FLJ56780|FLJ56787|MGC131639 histone 2, H2bf|histone H2B type 2-F protein-coding 1342896 HIST2H3A histone cluster 2, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq] 19250906,19250903,18840606,18712172,17950276,17353931,17194708,17189264,16916647,16829960,16829959,16710414,16678110,16627869,16497732,16267050,16185088,15684425,15681610,15527963,15525939,15489334,15471871,15345777,12560483,12489984,12477932,12408966,11856369,11242053,10523658,10464286,7309716,6494913,3013246,11336697,17704213,12015309,11959841,12590135,12786946,12888554,12427740,14985713,15339660,17320160,17320161,17468742,19747413,19801601 333932 NM_001005464,NG_005594,AF531305,AL591493,AY648851,BC015544,BC074969,BC130635,BC130637 NP_001005464,CAI12566,AAT68254,AAH74969,AAI30636,AAI30638,Q71DI3 Hs.647745,Hs.706618 H3/n|H3/o|HIST2H3C|HIST2H3D histone 2, H3a|histone H3.2|histone H3/m|histone H3/o protein-coding 1354031 HIST2H3B histone cluster 2, H3b 12408966,12888554 333931 NG_002616,AF531306 HIST2H3PS1 pseudo 1349967 HIST2H3C histone cluster 2, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq] 1580863 19411844,19363025,19041150,18452652,17353931,17194708,17189264,16916647,11080476,10464286,10384058,9566873,9439656,8814229,7309716,6494913,3013246,12482968,12419249,16678110,16627869,16497732,16362057,16267050,16189514,16185088,15684425,15681610,15527963,15525939,15489334,15471871,15345777,14657027,12628926,12560483,12477932,12408966,11856369,11689053,11509556,11242053,16710414,11073993,16415881,17938195,18082152,18381289,18500820,19187766,19818718,17179179 126961 NG_005594,AF531307,AL591493,BC015544,BC074969,BC130635,BC130637,NM_021059 AAN39283,CAI12561,AAH74969,AAI30636,AAI30638,Q71DI3,AAI48479,AAI53075,NP_066403 Hs.647745,Hs.706618 H3|H3.2|H3/M|H3F2|H3FM|H3FN|HIST2H3A|HIST2H3D|MGC9629 H3 histone family, member M|H3 histone, family 2|histone 2, H3c|histone 2, h3c|histone H3.2|histone H3/m|histone H3/o protein-coding 1604125 HIST2H3D histone cluster 2, H3d 17353931 653604 NM_001123375,AL591493 Q71DI3,NP_001116847,CAI12559 HIST2H3A|HIST2H3C histone 2, H3d|histone H3.2|histone H3/m|histone H3/o protein-coding 1603452 HIST2H3PS2 histone cluster 2, H3, pseudogene 2 17194708,17189264,16916647,16710414,16678110,16627869,16497732,16267050,16185088,15684425,15681610,15527963,15525939,15489334,15471871,15345777,12560483,12477932,12408966,11856369,11242053,10464286,7309716 440686 NG_012783,AL109948 CAI23568 MGC126031 pseudo 1346198 HIST2H4A histone cluster 2, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq] 12477932,12408966,11790298,11689053,11163245,11080476,10096020,9566873,9439656,9325046,8814229,7675449,6494913,6314274,3035717,11799066,17179179,19234465,15823041,15527963,15345777,14993289,14657027,14595808,12861021,12628926,12556504,10022855,10926844,11498536,12072557,12489984,14578449,14731392,15010469,15664198,16782091,16917504,17190600,17540172,18026117,18082152,18500820,9651585 8370 NM_003548,NG_005594,AF525682,AL591493,M16707,X00038,BC019846,BC093969,BC108260,BC112193,CR542172 NP_003539,AAM83108,CAI12560,AAA52652,CAA24918,AAH93969,AAI12194,P62805,AAI46449,AAI53064,CAG46969 Hs.55468,Hs.655235 FO108|H4|H4/n|H4F2|H4FN|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4|HIST2H4B|HIST4H4 H4 histone family, member N|H4 histone, family 2|histone 2, H4a|histone 2, h4|histone H4|histone IV, family 2 protein-coding 1605451 HIST2H4B histone cluster 2, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq] 3035717,10220385,15933069,17540172,17666011,15504738,16166375,16131487,15823041,15527963,12556504,12477932,12408966,6494913,14585971,18408754,18474616,19862764,9540062 554313 NM_001034077,NG_005594,AL591493,BC019846,BC093969,BC108260,BC112193,CR542172 NP_001029249,CAI12567,AAH93969,AAI12194,P62805,ADR82736,ADR83444,CAG46969 Hs.55468,Hs.655235,Hs.706635 H4/o|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST4H4 histone 2, H4b|histone H4 protein-coding 1320935 HIST3H2A histone cluster 3, H2a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq] 12786946,16710414,16702407,16359901,16189514,15823041,15489334,15386022,15078818,15010469,14657027,12477932,12408966,11689053,11080476,9566873,11336697 92815 NM_033445,AL139288,AY131974,CH471098,AK311930,BC001193,BC082269 NP_254280,CAI23331,AAN59960,EAW69878,BAG34871,Q7L7L0 Hs.700190,Hs.26331 MGC3165 histone 3, H2a|histone H2A type 3 protein-coding 1343698 HIST3H2BA histone cluster 3, H2ba 12408966,20210993 337872 NG_002618,AL139288,AY131980 pseudo 1312718 HIST3H2BB histone cluster 3, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq] 1580863 18958350,16916647,16878981,16713563,16710414,16627869,16319397,16307923,16283522,15489334,15010469,14731392,14702039,14657027,12757711,12477932,12408966,11689053,11080476,10469656,9566873,11336697,10405893,8647104,14595808,15749019,19834552,19906922 128312 NM_175055,AL139288,AY131981,CH471098,AK091220,BC100855,BC100856,BC100857,BC100858,BC137467,BC137468 NP_778225,CAI23330,AAN59962,EAW69879,BAC03613,AAI00856,AAI00857,AAI00858,AAI00859,AAI37468,AAI37469,Q8N257 Hs.376691 H2B type 12|histone 3, H2bb|histone 3, h2bb|histone H2B type 3-B protein-coding 1317808 HIST3H3 histone cluster 3, H3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is located separately from the other H3 genes that are in the histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq] 1580863 20498094,16166375,16858404,17157298,17540172,17643117,17761849,19585526,9566873,9439656,9325046,8986613,8980232,8834248,8798650,3697355,15611041,12482968,15019994,15546622,15345777,15469825,15674330,15619633,14595808,15680324,15494311,9651585,12540855,12514135,12489984,12477932,12408966,12389038,12372304,12123582,11959841,11864602,11850410,11824786,11779497,11689053,11602260,11310559,11266453,11163245,11080476,10926844,10911985,10523658,10469656,10436156,10022855,9748265,9710638,17537733,17567753,18439419,18418385,18281699,18048344,17320048,16710414,16354694,16127177,15922600,15782174,15664198,15635413,15620353,15489334,15235609,14993289,14718166,14657027,14633678,14594813,12789342,12786946,12773393,12577067,20448663 8290 NM_003493,AF531308,AL139288,CH471098,Z49861,AK312217,BC069079,BC101837,BC101839,CR542013 NP_003484,AAN39284,CAI23333,EAW69877,CAA90020,BAG35150,AAH69079,AAI01838,AAI01840,CAG46810,Q16695 Hs.248171 H3.4|H3/g|H3FT|H3t|MGC126886|MGC126888 H3 histone family, member T|H3/t|histone 3, H3|histone 3, h3|histone H3.1t protein-coding 1346703 HIST4H4 histone cluster 4, H4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq] 11163245,12840145,18671804,19348949,19438744,19536143,19578722,19667075,19747413,19805290,19818714,20512922,18974389,18684714,18408754,18319261,18001726,17848202,17666011,17548343,17540172,17522015,16782888,16531610,16469925,16322686,16177192,16131487,15933069,15664198,15527963,15504738,15345777,15095300,15010469,14731392,14657027,14578449,12786946,12489984,12477932,12408966,12385581,12072557,11689053,11498536,11266453,11080476,10926844,10022855,9651585,9566873,3035717,11336697,12015309,11959841,12590135,15992539,15864311,15834423,15710329,15019994,15546622,15765097,15469825,8647104,15688037,15688035,15616580,15502823,14595808,15674325 121504 AC010168,AY128653,AY648850,CH471094,BC020884,NM_175054 NP_778224,AAN01438,AAT68253,EAW96325,P62805,Q0VAS5,Q6B823 Hs.727976 H4/p|HIST1H4A|HIST1H4B|HIST1H4C|HIST1H4D|HIST1H4E|HIST1H4F|HIST1H4H|HIST1H4I|HIST1H4J|HIST1H4K|HIST1H4L|HIST2H4A|HIST2H4B|MGC24116 histone 4, H4|histone 4, h4|histone H4 protein-coding 1347918 HIVE1 human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1 3095 736425 HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 Members of the ZAS family, such as ZAS1 (HIVEP1), are large proteins that contain a ZAS domain, a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specific DNA sequences, including the kappa-B motif (GGGACTTTCC), in the promoters and enhancer regions of several genes and viruses, including human immunodeficiency virus (HIV). ZAS genes span more than 150 kb and contain at least 10 exons, one of which is longer than 5.5 kb (Allen and Wu, 2004).[supplied by OMIM] 1580863 20936779,2106471,16713569,16582099,15302935,15231748,12477932,8289330,7650680,2504707,2248949,2108316,2037300,1727488,1694016,1567844,16169070,19615732,20226436,20734064 3096 NM_002114,AL157373,AL391828,AL137221,CH471087,Z98050,AK294338,AY673640,BC028111,BC140816,CA430819,J05011,M32019,X51435 NP_002105,CAI14769,CAH73982,CAH73983,CAH73909,CAH73910,CAI14768,EAW55309,EAW55310,EAW55311,EAW55312,CAI21070,CAI21071,BAG57608,AAV85766,AAI40817,AAA17533,AAA17534,CAA35798,P15822,Q5VW59,Q82133 Hs.567284 CIRIP|CRYBP1|MBP-1|PRDII-BF1|Schnurri-1|ZAS1|ZNF40|ZNF40A GAAP|HIV-EP1|Zinc finger protein 40 (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex binding protein 1) (MBP-1) (Positive regulatory domain II binding factor 1) (PRDII-BF1)|cirhin interaction protein|gate keeper of apoptosis-activating protein|human immunodeficiency virus type I enhancer-binding protein 1|human immunodeficiency virus type i enhancer-binding protein 1|major histocompatibility complex binding protein 1|major histocompatibility complex-binding protein 1|positive regulatory domain II binding factor 1|positive regulatory domain II-binding factor 1|zinc finger protein 40 protein-coding 734342 HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 Members of the ZAS family, such as ZAS2 (HIVEP2), are large proteins that contain a ZAS domain, a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specific DNA sequences, including the kappa-B motif (GGGACTTTCC), in the promoters and enhancer regions of several genes and viruses, including human immunodeficiency virus (HIV). ZAS genes span more than 150 kb and contain at least 10 exons, one of which is longer than 5.5 kb (Allen and Wu, 2004).[supplied by OMIM] 1580863 19615732,2022670,2247438,16344560,14574404,12477932,10642512,10207097,8889549,1733857,1409593,20936779 3097 AK296531,AA465317,AK226163,AW197846,BC032679,CR936782,DA216380,DQ231041,M61744,X65644,NM_006734,AF153836,AL023584,AL355304,AL355307,CH471051,M60119,AA041301 BAG59161,ABB16331,AAA36202,CAA46596,P31629,Q38G99,AAI67801,NP_006725,AAF81365,CAA19042,EAW47873,AAB88218 Hs.510172 HIV-EP2|MBP-2|MIBP1|SHN2|ZAS2|ZNF40B MHC binding protein-2|MHC-binding protein 2|OTTHUMP00000017321|OTTHUMP00000017322|Schnurri-2|c-myc intron binding protein 1|c-myc intron-binding protein 1|human immunodeficiency virus type 1 enhancer-binding protein 2|human immunodeficiency virus type I enhancer-binding protein 2|transcription factor HIVEP2 protein-coding 1322610 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 Members of the ZAS family, such as ZAS3 (HIVEP3), are large proteins that contain a ZAS domain, a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine -rich sequence. These proteins bind specific DNA sequences, including the kappa-B motif (GGGACTTTCC), in the promoters and enhancer regions of several genes and viruses, including human immunodeficiency virus (HIV). ZAS genes span more than 150 kb and contain at least 10 exons, one of which is longer than 5.5 kb (Allen and Wu, 2004).[supplied by OMIM] 15790681,17388942,16344560,15627499,14999091,14707112,14702039,12477932,11804591,11161801,10997877,2247438,19913121,20628086,20379614 59269 NM_001127714,NM_024503,AC105268,AC119676,AL356455,AL445933,AL451006,CH471059,AB046775,AF278765,AI246631,AK122991,BC152563,DA093318,M61743,AF278766 NP_001121186,NP_078779,CAI14537,CAI14538,EAX07173,BAB13381,AAK01082,BAG53838,AAI52564,AAA36137,Q5T1R4,Q99302,AAI72754 Hs.648369 FLJ16752|KBP-1|KBP1|KIAA1555|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C OTTHUMP00000007073|OTTHUMP00000007074|human immunodeficiency virus type I enhancer-binding protein 3|kappa-B and V(D)J recombination signal sequences-binding protein|kappa-binding protein 1|kappabinding protein-1|transcription factor HIVEP3|zinc finger protein ZAS3 protein-coding 2292108 HJURP Holliday junction recognition protein 19410545,17823411,16622419,12477932,16169070,20211017,20595579,18029348,19410544,20080577 55355 NM_018410,AC005538,CH471063,AB101211,AB162218,AK074809,AK301643,AK303109,AL162048,BC001940,BE535238,BM148072,BM475244,BQ225710,CA441903,CR594599,CR621677 NP_060880,EAW71064,EAW71065,BAF82039,BAD36741,BAC11221,BAG63122,BAG64216,CAB82391,AAH01940,Q8NCD3 Hs.532968 DKFZp762E1312|FAKTS|URLC9|hFLEG1 14-3-3-associated AKT substrate|Holliday junction recognition protein|OTTHUMP00000065203|fetal liver expressing gene 1|fetal liver-expressing gene 1 protein|up-regulated in lung cancer 9 protein-coding 737450 HK1 hexokinase 1 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq] 2302804,2302784,2302851,1601527,1601519,1300048 9493266,3207429,19651813,19554504,19165527,19096518,19049977,19034380,18308720,18212354,17494625,17080299,16344560,16169070,16166083,15489334,15164054,14702039,12477932,12432216,12393545,10978502,10686099,10574795,10356311,9735292,9531504,9450953,9414310,9028305,8722688,8720117,8706938,8420959,7655856,6848140,2297576,2059200,1985912,1637300,1572668,20562859,20732627,20139978,16385451,18029348,19536174,19608687,19862010,20347420,20379614,20858683,20877624 2302804,2302784,2302851,1601527,1601519 3098 NG_012077,NM_033500,NM_033498,NM_033497,NM_033496,NM_000188,AC016821,AF016349,AF016365,AF029305,AF029306,AF163908,AF163909,AF163910,AF163911,AF163912,AF163913,AL596223,AL672126,CH471083,AB209526,AF073786,AK091267,AK128226,AK292012,AK294428,AK309904,BC008730,BX406321,CR598171,CR601325,CR605003,CR608450,DB088955,M75126,U38226,U38227,U38228,X66957 NP_277035,NP_277033,NP_277032,NP_277031,NP_000179,AAC15863,AAC15862,AAF82319,AAF82320,AAC00173,AAC00172,CAH71502,CAH71504,CAH71505,CAH71506,EAW54319,EAW54320,EAW54321,EAW54322,EAW54323,BAD92763,AAC25424,BAG52321,BAG54651,BAF84701,BAG57673,AAH08730,AAA52646,AAB40527,AAB40528,AAB40529,CAA47379,P19367,P78542,Q59FD4,Q71V75,Q99609,ABM84207,ABM87761 Hs.370365 HK1-ta|HK1-tb|HK1-tc|HKI|HXK1 HK I|brain form hexokinase|glycolytic enzyme|hexokinase type I|hexokinase-1 protein-coding 733090 HK2 hexokinase 2 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq] 2302784,2313227,1580863,1624365,632917,1300048,2313229 19003546,19681047,19723875,19770592,20159966,20346347,20347420,8786021,9278438,7622509,19579598,19558793,19554504,19049977,19033437,18772588,18579725,18535403,18271924,17785433,16713569,16551620,16396496,16189514,15967114,15710218,15489334,14747281,14672622,12663490,12477932,11688991,11068878,9447955,9056853,8889548,8567628,8307259,8250948,7883123,7883122,7883120,7518342,16712791,20453422,20846459,18350175,20845004,20845477,20877624 2302784,2313227,1624365,632917,2313229 3099 NM_000189,AC019069,AC104135,AY623118,CH471053,D25412,Z46354,Z46360,AF086198,AF148513,AI085541,AI278414,AK290357,AW134604,BC021116,BC064369,BM706373,BM912287,CB160837,CR600120,CR749202,HB877664,HC935073 NP_000180,AAX93084,AAY24209,AAT38114,EAW99601,EAW99602,EAW99603,BAA04999,CAA86476,CAA86482,AAD30174,BAF83046,AAH21116,AAH64369,CAH18060,P52789,Q09LL6,Q53QX9,Q53SG7,Q68E10,Q7Z7Q6,ABM86696,ABW03812,CBF63160,CBU88036 Hs.406266,Hs.591588 DKFZp686M1669|HKII|HXK2 HK II|OTTHUMP00000202738|hexokinase type II|hexokinase-2|hexokinase-2, muscle|muscle form hexokinase protein-coding 1351995 HK2P hexokinase 2 pseudogene 7999069,7590357 642546 NG_009860,AL512504,U28387 HK2P pseudo 736939 HK3 hexokinase 3 (white cell) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq] 2302784,1580863,1300048 7150652,19554504,12543931,12488461,12477932,11068878,9468341,8941369,8812439,8717435,4058069,1190733,19448621,20877624 2302784 3101 NM_002115,AC027318,CH471195,L37749,BC028129,BX644742,U42303,U51333,AB208951 NP_002106,EAW85047,EAW85048,EAW85049,AAB03512,AAH28129,AAC50422,AAC50732,P52790,Q16779,Q59H08,BAD92188,ABM82004,ABM85186 Hs.411695 HKIII|HXK3 ATP:D-hexose 6-phosphotransferase|HK III|hexokinase 3|hexokinase type III|hexokinase-3 protein-coding 1354446 HKDC1 hexokinase domain containing 1 14702039,12477932,16385451,18029348,20379614,20732627,20800603 80201 NM_025130,AL596223,CH471083,AK026414,AK095086,AK291024,AK303408,BC012337,BC021278,BC069201,BC110504,BC110505,BX538078 NP_079406,CAH71500,EAW54317,EAW54318,BAB15478,BAG52982,BAF83713,BAG64461,AAH12337,AAH21278,AAI10505,AAI10506,CAD98002,Q2TB90 Hs.522988 FLJ22761|FLJ37767|MGC125688 hexokinase domain-containing protein 1|putative hexokinase HKDC1 protein-coding 1344548 HKR1 GLI-Kruppel family member HKR1 1580863 2850480,15489334,14702039,12477932,9813242,9373149,8812445,8125298 284459 NM_181786,AC008806,AC016590,CH471126,M20675,AB013897,AK056243,AK128116,AK223616,AK299969,AK301601,AK307852,BC004513,BC010024,BC017256,BC053845 NP_861451,EAW56721,EAW56722,EAW56723,EAW56724,EAW56725,EAW56726,BAA86058,BAG51656,BAD97336,BAG61795,BAG63089,AAH04513,AAH17256,AAH53845,P10072,Q53EM3,Q7Z6E1 Hs.657027 ZNF875 GLI-Kruppel family member HKR1|Krueppel-related zinc finger protein 1|oncogene HKR1|zinc finger protein 875 protein-coding 1349444 HLA-A major histocompatibility complex, class I, A HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq] 1580863 20141578,20003137,20549830,20550778,20559009,20567513,20595243,20600442,20600444,20608062,20610889,20613458,20619457,20631027,20637045,20660184,20666704,20668555,20670332,20678810,20679961,20684489,20692483,20713950,20722701,20723328,20736246,20739684,20798335,20715101,20868569,19883394,20454561,20813390,1431115,2437024,2715640,6609814,8188325,12414957,17353931,15569716,19429597,19409091,19407364,19392852,19392836,19364514,19350523,19349081,19348686,19299434,19278738,19276793,19265139,19254258,19246116,19235017,19232441,19227412,19223392,19219503,19214504,19200828,19199259,19196481,19180512,19167759,19165231,19159415,19155500,19148489,19143818,19143813,19143812,19140832,19127112,19112225,19104471,19100395,19096254,19063987,19054371,19052350,19047245,19046300,19033208,19030725,19024262,19023492,19019964,19000146,19000143,19000142,19000140,18987644,18982067,18976440,18976432,18971283,18958335,18949728,18939942,18936542,18922348,18852273,18848853,18846964,18801059,18797890,18786593,18782112,18778326,18770861,18769915,18768435,18761557,18755927,18721271,18718089,18716994,18689790,18684953,18684101,18683155,18613417,18589099,18583252,18582515,18580606,18578977,18571006,18566379,18544086,18521626,18520158,18517005,18502829,18501999,18486765,18458507,18451182,18434400,18399156,18396213,18385790,18385451,18381784,18370845,18363871,18361931,18359130,18347914,18344933,18340360,18332066,18320121,18301962,18295677,18273034,18256425,18244920,18241227,18240960,18236804,18223493,18201363,18190553,18186801,18093280,18088468,18086267,18085998,18082573,18078206,18074415,18070207,18069934,18065518,18064508,18057683,18035044,18022727,18004301,18001297,17997746,17989838,17989341,17971052,17971048,17964196,17961775,17956696,17927716,17924859,17922429,17911430,17909631,17900288,17891921,17869653,17853492,17845299,17825227,17785583,17763415,17726164,17719062,17715334,17701131,17668896,17662350,17662002,17661908,17653284,17652849,17630352,17629023,17624664,17620420,17610418,17609824,17604825,17603847,17584771,17581864,17578051,17573956,17554059,17546694,17509453,17509091,17504510,17498269,17493347,17491685,17489060,17487448,17471440,17462512,17462511,17460569,17458393,17437273,17433060,17429413,17428358,17407088,17389024,17389023,17389019,17388919,17383044,17378697,17373939,17360168,17349876,17317585,17311253,17306585,17299710,17290883,17288808,17284222,17258541,17257318,17243956,17234427,17227111,17215337,17212710,17212707,17209778,17207712,17186951,17182537,17142892,17142764,17142760,17117954,17106278,17102800,17101473,17092262,17062033,17055361,17026471,17021767,16948651,16948650,16926287,16922942,16916654,16893386,16883565,16878186,16866891,16866885,16866883,16857416,16786814,16767661,16731854,16720216,16704965,16702430,16698425,16675560,16671946,16611249,16609350,16608404,16604503,16583211,16538176,16533342,16532100,16493087,16481299,16473309,16463424,16459714,16456803,16456797,16451204,16451199,16451198,16441495,16441494,16441493,16441492,16441491,16441487,16441486,16405603,16386651,16386646,16365741,16361713,16343061,16331567,16331510,16322289,16310048,16307312,16305683,16267409,16235173,16216678,16216676,16215957,16215732,16185849,16185336,16185330,16185329,16185325,16174649,16173256,16156661,16143070,16129034,16120569,16113298,16103458,16101834,16101833,16095491,16086925,16086295,16086294,16053028,16041067,16029435,16029431,16019679,15983206,15982259,15982258,15982254,15975271,15968843,15952133,15940053,15935891,15896206,15896205,15884673,15858601,15854278,15853906,15853904,15853903,15853898,15847654,15836703,15809757,15807454,15793795,15787723,15784468,15772003,15743917,15740492,15726104,15701833,15683420,15681828,15666025,15662734,15640334,15631661,15629059,15621102,15613143,15607698,15596859,15567775,15555263,15554365,15546341,15534563,15498100,15496201,15496200,15491536,15489334,15483462,15480178,15471368,15459953,15455355,15385740,15362660,15361135,15361126,15323271,15323134,15321756,15314693,15307871,15304010,15301866,15301865,15280452,15275783,15251317,15245541,15245377,15245373,15243926,15239092,15236755,15228651,15220037,15215855,15211110,15202948,15191952,15191527,15166527,15144462,15140038,15140031,15131131,15128924,15128805,15124939,15122136,15113995,15100263,15086350,15072129,15070694,15061705,15057902,15046556,15034213,15009808,15009803,15009432,15000695,14989713,14969772,14871250,14748996,14727382,14722266,14705987,14700599,14700598,14700597,14700596,14693734,14686115,14674935,14673570,14656748,14651518,14648147,14617038,14617036,14601650,14595379,14581545,14574404,14563323,14551034,14527733,14527201,14522093,14510801,14504973,14501786,12975536,12974801,12956878,12956877,12941076,12917841,12897781,12866921,12859597,12859593,12857887,12853576,12850493,12826378,12826374,12825172,12811505,12803653,12774051,12768083,12753667,12753666,12753657,12717621,12714268,12694583,12694575,12691707,12665835,12651075,12648281,12594841,12590984,12584329,12578601,12574360,12574356,12516093,12507828,12507825,12507823,12507820,1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3105 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30,BAA08783,BAA11935,ABC55710,ABC55711,ABC55712,ABC55713,ABC55714,ABC59610,ABC59611,ABC59612,AAA17012,AAB59614,AAA52656,AAA17889,AAA59598,AAB47873,AAA59653,AAA59655,AAA36227,AAA59636,AAA59637,AAA59602,AAA36234,AAA59600,AAA59599,AAA59603,AAA59604,AAA59606,AAA35991,AAA03720,AAC04322,AAA03605,AAA80569,AAA87076,AAA73518,AAB63980,AAA80238,AAB41292,AAA87570,AAA87571,AAA87572,AAB38491,AAB60406,AAB08574,AAB17465,AAB53373,CAA26297,CAA31503,CAA31504,CAA41022,CAA42702,CAB56609,CAA43869,CAA43872,CAA43873,CAA43880,CAA62745,CAA65442,CAA65501,CAA66389,CAA69599,CAA72245,CAA73473,CAA73716,CAB38056,CAB38057,CAA80612,CAA81644,CAA86602,A0EVJ8,A0EVJ9,A0EVK0,A0FKC6,O02860,O02922,O02968,O15506,O19520,O19521,O19558,O19559,O19560,O19561,O19562,O19600,O19601,O19602,O19603,O19604,O19607,O19608,O19609,O19610,O19611,O19612,O19613,O19618,O19620,O19633,O19642,O19671,O19672,O19689,O19690,O19796,O19797,O43828,O46852,O46853,AAA59611,ABF54961,ABI31649,ABI34469,ABI64161,ABK97607,ABN45878,ABP01670,ABR08289,ABS18723,ABV66222,ABW38319,ABY21173,ACI15742,ACJ71678,ACN89842,ACN89846,ACN91039,ACS12755,ACU02151,ACU46618,ACV89431,BAA11936,BAF46251,BAG12800,BAG15909,BAG58845,CAC00689,CAL34150,CAL59585,CAM12702,CAP20082,Q9MY57,CBW44123 Hs.181244,Hs.713441 Aw-68|Aw-69|FLJ26655|HLAA HLA class I histocompatibility antigen, A-1 alpha chain|HLA class I histocompatibility antigen, A-10 alpha chain|HLA class I histocompatibility antigen, A-23 alpha chain|HLA class I histocompatibility antigen, A-24 alpha chain|HLA class I histocompatibility antigen, A-25 alpha chain|HLA class I histocompatibility antigen, A-26 alpha chain|HLA class I histocompatibility antigen, A-28 alpha chain|HLA class I histocompatibility antigen, A-29 alpha chain|HLA class I histocompatibility antigen, A-31 alpha chain|HLA class I histocompatibility antigen, A-34 alpha chain|HLA class I histocompatibility antigen, A-36 alpha chain|HLA class I histocompatibility antigen, A-43 alpha chain|HLA class I histocompatibility antigen, A-66 alpha chain|HLA class I histocompatibility antigen, A-80 alpha chain|HLA class I histocompatibility antigen, A-9 alpha chain|MHC class I antigen A*1|MHC class I antigen A*11|MHC class I antigen A*2|MHC class I antigen A*23|MHC class I antigen A*24|MHC class I antigen A*25|MHC class I antigen A*26|MHC class I antigen A*29|MHC class I antigen A*3|MHC class I antigen A*31|MHC class I antigen A*32|MHC class I antigen A*34|MHC class I antigen A*36|MHC class I antigen A*43|MHC class I antigen A*66|MHC class I antigen A*68|MHC class I antigen A*69|MHC class I antigen A*80|MHC class I antigen HLA-A heavy chain|MHC leukocyte antigen|OTTHUMP00000161059|antigen presenting molecule|aw-19|aw-24|aw-34|aw-36|aw-43|aw-66|aw-80|leucocyte antigen A|leucocyte antigen class I|leukocyte antigen class I-A 1643399 BMD5_H protein-coding 1352836 HLA-B major histocompatibility complex, class I, B HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq] 1580863 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Hs.77961,Hs.654404 AS|Bw-58|HLA-B-7301|HLA-B27|HLA-B73|HLA-C|HLAB|HLAC|MGC111087|SPDA1 HLA class I histocompatibility antigen, B alpha chain|HLA class I histocompatibility antigen, B-12 alpha chain|HLA class I histocompatibility antigen, B-21 alpha chain|HLA class I histocompatibility antigen, B-5 alpha chain|HLA class I histocompatibility antigen, B-7 alpha chain|HLA class I histocompatibility antigen, B-73 alpha chain|HLA class I histocompatibility antigen, B-8 alpha chain|HLA class I histocompatibility antigen, Cw-5 alpha chain|HLA-B alpha chain (HLA-B*7301)|MHC Class I HLA heavy chain|MHC HLA-B cell surface glycoprotein|MHC class I antigen B*13|MHC class I antigen B*14|MHC class I antigen B*15|MHC class I antigen B*18|MHC class I antigen B*27|MHC class I antigen B*35|MHC class I antigen B*37|MHC class I antigen B*38|MHC class I antigen B*39|MHC class I antigen B*40|MHC class I antigen B*41|MHC class I antigen B*42|MHC class I antigen B*44|MHC class I antigen B*46|MHC class I antigen B*49|MHC class I antigen B*51|MHC class I antigen B*52|MHC class I antigen B*53|MHC class I antigen B*54|MHC class I antigen B*55|MHC class I antigen B*57|MHC class I antigen B*58|MHC class I antigen B*7|MHC class I antigen B*73|MHC class I antigen B*78|MHC class I antigen B*8|MHC class I antigen B*81|MHC class I antigen Cw*5|MHC class I antigen GN00104|MHC class I antigen HLA-B heavy chain|MHC class I antigen SHCHA|b'DT|bw-22|bw-4|bw-41|bw-44|bw-46|bw-52|bw-53|bw-54|bw-55|bw-57|bw-60|leukocyte antigen class I-B|lymphocyte antigen|major histocompatibility complex, class I, B protein-coding 1343149 HLA-C major histocompatibility complex, class I, C HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq] 1580863 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3107 NG_002397,AB008136,AB032096,AB088111,AB196344,AB196345,AB196346,AB202106,AB247153,AB247154,AB248242,AB253624,AB257505,AB257506,AF002270,AF002271,AF003284,AF009682,AF009684,AF009685,AF015557,AF015559,AF016304,AF017322,AF017323,AF017324,AF017325,AF017326,AF017330,AF017331,AF019568,AF036551,AF036553,AF036555,AF036557,AF037075,AF037077,AF037079,NM_002117,AJ318865,AJ418708,AJ420242,AJ420243,AJ420245,AJ420247,AJ420248,AJ420251,AJ420252,AJ438882,AJ440717,AJ440718,AJ506097,AJ506196,AJ507389,AJ507431,AJ507797,AJ507798,AJ515217,AJ535690,AJ549184,AJ549185,AJ550622,AJ550623,AF038574,AF039198,AF062587,AF062588,AF069961,AF076476,AF082801,AF100320,AF102689,AF105241,AF138277,AF139728,AF144665,AF145467,AF145761,AF145763,AF147702,AF165851,AF165853,AF172868,AF176082,AF179632,AF189726,AF205537,AF220291,AF245437,AF250557,AF281056,AF284583,AF289031,AF316036,AF323844,AF323846,AF323854,AF335315,AF480614,AF497547,AF509727,AF510721,AF525406,AF525408,AF529191,AF535212,AF037450,AF539619,AF541997,AF541998,AJ001977,AJ010322,AJ010323,AJ011881,AJ011882,AJ011883,AJ011884,AJ131194,AJ133100,AJ133473,AJ133475,AJ133476,AJ237703,AJ238694,AJ242661,AJ243434,AJ249163,AJ249164,AJ277100,AJ278494,AJ278509,AJ291815,AJ292559,AJ293016,AJ293017,AJ293511,AJ298116,AJ298837,AJ300765,AJ304496,AJ306617,AJ558127,AJ558128,AJ558129,AJ558130,AJ558132,AJ566950,AJ579644,AJ579645,AJ579646,AJ579787,AJ579997,AJ579998,AJ580001,AJ580002,AJ616764,AJ616766,AJ616770,AJ616772,AJ616774,AJ617511,AJ617512,AJ617783,AJ617785,AJ620461,AJ621024,AJ628733,AJ628735,AJ628737,AJ628741,AJ558126,AJ629313,AJ629315,AJ635295,AJ635299,AJ697649,AJ697650,AJ697852,AJ810176,AJ831405,AJ851863,AJ851864,AJ851865,AJ865388,AJ871635,AJ878877,AJ971029,AL662833,AL671883,AM039493,AM087019,AM087957,AM087958,AM157129,AM158319,AM180629,AM180647,AM180648,AM180649,AM180651,AM180722,AM180941,AM236221,AM260635,AM261030,AM285029,AM419012,AY028706,AY028708,AY064404,AY078079,AY093610,AY158888,AJ879943,AY181042,AY217669,AY229982,AY230857,AY233979,AY323834,AY354908,AY363885,AY363887,AY364410,AY368486,AY368504,AY371078,AY371080,AY373452,AY429571,AY429604,AY429725,AY429727,AY434500,AY438570,AY438572,AY484703,AY509614,AY509615,AY509618,AY530953,AY536515,AY603356,AY607028,AY618875,AY619989,AY623606,AY643837,AY714373,AY839182,AY887667,AY918170,AY918171,AY929155,AY973960,AY973961,BA000025,BX322539,CH471081,D12472,D64153,D83957,D89334,DQ003053,DQ020591,DQ086795,DQ086799,DQ135946,DQ135948,DQ200949,DQ206991,AY162385,DQ244130,DQ244132,DQ244134,DQ270211,DQ289052,DQ289054,DQ314860,DQ314861,DQ327710,DQ334740,DQ334744,DQ359691,DQ372912,DQ400515,DQ400525,DQ400527,DQ400531,DQ401175,DQ401181,DQ401183,DQ417103,DQ417105,DQ417109,DQ453525,DQ514599,DQ648006,DQ648007,DQ780571,DQ782328,DQ784564,DQ788797,DQ833439,L54059,M16272,M16273,M24030,M26432,M28172,M59865,U31373,U38975,U38976,U44064,U52176,U56260,U60217,U60218,U60321,U60322,U60323,U60324,U60422,U61273,U61274,U80671,U81012,U88251,U88252,U88253,U88839,U96785,U96787,DQ244128,U97345,U97347,X00495,Y14684,Y15745,Y15746,Y15842,Y16411,Y16412,Y16418,Y17064,Y17065,Y18139,Y18141,Y18142,Y18143,Y18145,Y18146,Y18499,Y18656,Z22752,Z72007,Z75172,Z79751,Z80228,AF168611,AF196489,AF405691,AJ005199,AJ010748,AJ010749,AJ440716,AJ537578,AK024836,AK130592,AK301283,AK304527,AM237285,AY732487,BC002463,BC004489,BC007814,BC008457,BC010542,BC033293,BC041078,CA395932,CR590624,CR591580,CR592947,CR593350,CR595198,CR596955,CR597526,CR598290,CR598918,CR599470,CR600524,CR601147,CR601998,CR602127,CR602442,CR603910,CR604220,CR605658,CR606564,CR606802,CR606838,CR607146,CR607446,CR607744,CR608009,CR608133,CR608445,CR608734,CR610206,CR610282,CR610894,CR611167,CR611253,U96789,CR612894,CR613417,CR617532,CR619374,CR619491,CR619732,CR620918,CR622501,CR623932,CR625377,CR626083,CR626476,CR626681,D38526,D49552,D49819,D50852,D50853,D50854,D64145,D64146,D64147,D64148,D64150,D64151,D64152,D83029,D83030,D83741,L38251,L77114,M11886,M12679,M21963,M24031,M24096,M24097,M26429,M26430,M26431,M26712,M28160,M28206,M28207,M84171,M84172,M84173,M84174,M84386,M99389,M99390,S74115,U06695,U06696,U07230,U09853,U41386,U41420,U57028,U62824,U91179,X58536,X70856,X70857,X76189,X82122,X83394,X97321,X98742,CR611808,X99704,Y10520,Y11843,Z15144,Z33459,Z46809,Z46810,Z83247,XM_003119244,XM_003119245,XM_003119246,XM_003119247,XM_003119248,XM_003119249,XM_003119250,XM_003119251,XM_003119252,XM_003119253,XM_003119254,XM_003119255,XM_003119256,XM_003119257,XM_003119359,XM_003119360,XM_003119361,XM_003119362,XM_003119363,XM_003119364,XM_003119365,XM_003119366,XM_003119367,XM_003119368,XM_003119369,XM_003119370,XM_003119371,XM_003119372,XM_003119373,XM_003119405,XM_003119406,XM_003119407,XM_003119408,XM_003119409,XM_003119410,XM_003119411,XM_003119412,XM_003119413,XM_003119414,XM_003119415,XM_003119416,XM_003119417,XM_003119418,XM_003119419,BX248310,BX927178,CR388229,CR759828,AM422979 NP_002108,BAA22919,BAA84115,BAC54942,BAD77815,BAD77816,BAD77817,BAE78631,BAE76021,BAE76022,BAE78656,BAE87034,BAE93431,BAE93432,AAC14581,AAB62539,AAC17716,AAB66708,AAB66710,AAB66711,AAC17722,AAC17724,AAB80724,AAB70288,AAB70289,AAB70290,AAB70291,AAB70292,AAB70296,AAC14579,AAC17721,AAC17727,AAC17725,AAC17713,AAC17720,AAC17717,AAC17718,AAC17715,CAC79613,CAD12801,CAD12427,CAD12428,CAD12430,CAD12432,CAD12433,CAD12436,CAD12437,CAD27616,CAD29450,CAD29451,CAD44569,CAD44641,CAD45440,CAD45557,CAD47827,CAD47856,CAD56468,CAD59685,CAD70710,CAD70711,CAD79471,CAD79472,CAC36100,AAC17710,AAC17723,AAD37816,AAC16245,AAF23073,AAC27626,AAD52014,AAF04638,AAF04743,AAF29567,AAF64391,AAF65514,AAD38379,AAD38672,AAD38673,AAD38674,AAD53513,AAF89551,AAF89554,AAD48066,AAD51747,AAD52687,AAF04581,AAF19427,AAF33239,AAG53741,AAG53742,AAK69510,AAF91475,AAG10048,AAG49322,AAG40881,AAG40882,AAG42272,AAK07655,AAL87225,AAM46846,AAP30863,AAM44831,AAM83098,AAM91947,AAN04004,AAN33107,AAN10165,AAN10166,CAA05125,CAB45917,CAB45918,CAB65545,CAB65546,CAB65547,CAB65548,CAC11132,CAB38942,CAB37942,CAB37944,CAB37945,CAB40352,CAB41889,CAB44356,CAB46485,CAB53538,CAB53539,CAB86064,CAB95011,CAC01936,CAC19191,CAC05372,CAC04321,CAC04322,CAB97130,CAC18746,CAC12745,CAC24483,CAC19018,AAN07187,CAD90006,CAD90007,CAD90008,CAD90009,CAD90010,CAD90012,CAD98751,CAE22463,CAE22464,CAE22465,CAE30287,CAE30455,CAE30456,CAE30459,CAE30460,CAE84097,CAE84099,CAE84103,CAE84105,CAE84107,CAE85468,CAE85469,CAE92337,CAE92338,CAF05030,CAF18233,CAF32225,CAF32226,CAF32227,CAF33342,CAF33343,CAG25672,CAG25674,CAG26752,CAG26753,CAG26974,CAH17687,CAH40829,CAH65480,CAH65479,CAH65478,CAI29271,CAI40345,CAI48027,CAF32229,CAI53896,CAI94871,CAI17409,CAM24814,CAM24815,CAM24816,CAM24817,CAI18144,CAJ01384,CAJ31318,CAJ32664,CAJ32665,CAJ42902,CAJ43601,CAJ55687,CAJ55680,CAJ55681,CAJ55682,CAJ55690,CAJ55741,CAJ56101,CAJ84823,CAJ97443,CAK02799,CAK96162,CAL91416,AAK31618,AAK31619,AAL49978,AAL82717,AAM14725,AAO49822,AAN84536,AAO24136,AAO62346,AAO74627,AAO73564,AAO84019,AAP84346,AAR28201,AAR19086,AAR19102,AAR15062,AAR28679,AAQ72735,AAR15147,AAR15148,AAQ81571,AAR06856,AAR08453,AAR10880,AAR10881,AAR12134,AAR06668,AAR06669,AAR87009,AAR99590,AAR99591,AAR99594,AAS98883,AAS45436,AAV39503,AAT46360,AAT39426,AAT41622,AAT39989,AAT65966,AAU14145,AAW21339,AAW88385,AAX18631,AAX18632,AAX98239,AAX94769,AAX94770,BAB63310,EAX03374,EAX03375,EAX03376,EAX03377,EAX03378,EAX03379,EAX03380,EAX03381,EAX03382,BAF96505,BAA11022,BAA22206,BAA13946,AAY23010,AAY46194,AAZ28915,AAZ28917,AAZ53371,AAZ53372,ABB16354,ABB16355,ABB52621,ABB52622,ABB52623,ABB52624,ABB55457,ABC02064,ABC02065,ABC47332,ABC47333,ABC59292,ABC61964,ABC61966,ABD60574,ABD62869,ABD62874,ABD62875,ABD62877,ABD64573,ABD64576,ABD64577,ABE00935,ABE00936,ABE00938,ABD95971,ABF60562,ABG43099,ABG43100,ABG79048,ABG91051,ABG81862,ABG81776,ABH03035,AAB04639,AAA59700,AAA59702,AAA59671,AAA59648,AAA59670,AAA59659,AAA74583,AAA81370,AAA81371,AAB02773,AAB82334,AAB01210,AAB03578,AAB03579,AAB03581,AAB03582,AAB03583,AAB03584,AAB03587,AAB03623,AAB03624,AAB38971,AAB40998,AAB48495,AAB48496,AAB48497,AAB48516,AAC17737,AAC17719,AAC17728,AAC17714,AAC17711,CAA25190,CAA75000,CAA75755,CAA75756,CAB44777,CAA76197,CAA76198,CAA76206,CAA76613,CAA76614,CAB71932,CAB71934,CAB71935,CAB71936,CAB71938,CAB71939,CAB71315,CAB71940,CAA80437,CAA96520,CAA99487,CAB02077,CAB02409,AAD50823,AAM76870,AAL03994,CAA06438,CAA09340,CAA09341,CAD29433,CAD61205,BAG62842,BAG65328,CAJ86551,AAV33126,AAH02463,AAH07814,AAH08457,AAH10542,AAH33293,BAA07531,BAA08500,BAA08625,BAA32611,BAA32610,BAA32612,BAA19531,BAA19532,BAA19533,BAA19534,BAA19535,BAA19536,BAA19537,BAA11747,BAA32613,BAA32615,AAF26750,AAL40067,AAA52665,AAA59699,AAA59847,AAA00027,AAA59654,AAA59656,AAA59657,AAA59701,AAA59703,AAA59704,AAA52666,AAA36235,AAA57258,AAA53259,AAA59685,AAA59686,AAA59687,AAA59688,AAA59705,AAA88088,AAA88089,AAD14147,AAA92995,AAA92996,AAA17037,AAA50217,AAC32743,AAC32742,AAD11469,AAB67322,AAC51396,CAA41427,CAA50209,CAA50210,CAA53783,CAA57634,CAA58313,CAA65986,CAA68035,CAA71531,CAA72592,CAA78850,CAA83881,CAA86839,CAA86840,CAB05845,O19514,O19515,O19553,O19571,O19572,O19573,O19574,O19575,O19579,O19580,O19617,O19635,O19636,O19654,O19655,O19657,O19677,O19761,O19784,O78066,O78071,O78089,O78164,O78176,O78179,O78213,O95957,P04222,P10321,P30499,P30501,P30504,P30505,P30508,P30510,P79497,P79558,P79560,P79617,P79618,P79619,Q001P2,Q001S2,Q06AC8,Q08GD3,Q08GM9,Q09GE6,Q0E9Q9,Q0E9R0,Q0MT77,Q0P6S6,Q0PHP6,Q0PMJ9,Q0PMK0,Q0PPT7,Q0PQ42,Q0PQ78,Q0ZAW8,Q0ZAW9,Q0ZP94,Q0ZP95,Q14838,Q14QQ1,Q1G102,Q1M2U3,Q1M2X9,Q1W0Z3,Q1WAA7,Q1WAA9,Q209I4,Q27I59,Q27W00,Q29645,Q29658,Q29729,Q29730,Q29752,Q29753,Q29866,Q29914,Q29954,Q29958,Q29960,Q29962,Q29963,Q29987,Q29988,Q2L4E9,Q2L4W1,Q2L6G3,Q2LDD5,Q2LDD7,Q2P9S5,Q2UV94,Q2UVJ3,Q2XPN2,Q30193,Q30194,Q30196,Q30203,Q30204,Q30205,Q306H8,Q3KT81,Q45FZ2,Q45FZ3,Q45YI9,Q45YJ2,Q4QZ30,Q4U0W2,Q4ZJJ0,Q52QV2,Q52QV3,Q53X46,CAA67294,Q53YN9,Q53YP1,Q53YY2,Q545Z1,Q545Z8,Q546A4,Q546E2,Q546I6,Q546I7,Q5C9P9,Q5D1W7,Q5D1W8,Q5EFR2,Q5F2L3,Q5K018,Q5K095,Q5MBP4,Q5QT33,Q5R1M1,Q5R1M2,Q5R1M3,Q5UGI4,Q5W1M0,Q5W1M1,Q5W1M2,Q5ZGL9,Q64EU5,Q6A0F4,Q6A3P4,Q6DUF1,Q6GYF7,Q6IUU7,Q6IVK0,Q6IVY5,Q6R739,Q6R742,Q6R743,Q6T391,Q6T392,Q6T614,Q6T715,Q6T716,Q6UFS6,Q6UJZ6,Q6UQM7,Q6V116,Q6ZXT8,Q6ZXX0,Q6ZXX1,Q6ZYB9,Q700L6,Q700Z4,Q700Z5,Q700Z6,Q700Z7,Q704P8,Q704Y6,Q706I6,Q707T7,Q707T8,Q708F0,Q708F1,Q708F2,Q708F3,Q708F4,Q70NZ9,Q70P01,Q70P02,Q70P03,Q70P04,Q70P05,Q7JFH7,Q7YNW6,Q7YNX6,Q7YNY4,Q7YNY7,Q7YNY8,Q7YP29,Q7YP80,Q7YQ06,Q7YQ61,Q7YQB1,Q7YQB2,Q7YQB3,Q85ZX8,Q860A5,Q860A8,Q860B0,Q860B3,Q860R7,Q860R8,Q860S4,Q861B1,Q861F9,Q8HWE9,Q8HWG1,Q8HWL9,Q8HWM4,Q8HWM5,Q8HWP3,Q8HWP4,Q8HWP7,Q8HWR1,Q8HWT1,Q8HWT2,Q8HWT3,Q8HWT6,Q8HWT7,Q8MH57,Q8MHM3,Q8MHM5,Q8MHN2,Q8MHN5,Q8MHP9,Q8SNA8,Q8SNA9,Q8SNB0,Q8SNB1,Q8SNC7,Q8SP56,Q95604,Q95HC2,Q95HN1,Q96FQ5,Q9BCN2,Q9BCN6,Q9BD09,Q9BD29,Q9BD45,Q9BD46,Q9GIN8,Q9GIN9,Q9GIP1,Q9GJ39,Q9GJF2,Q9GJG5,Q9GJM4,Q9MY32,Q9MY34,Q9MY41,Q9MY58,Q9MY63,Q9MYB1,Q9MYB6,Q9MYF9,Q9MYH6,Q9MYH7,Q9MYH9,Q9MYI1,Q9TNT2,Q9TNT3,Q9TNT5,Q9TNT6,Q9TNU1,Q9TNZ7,Q9TP43,Q9TPT9,Q9TPU1,Q9TPU5,Q9TQ33,Q9TQ34,Q9TQ35,Q9TQ36,Q9TQA8,Q9UEY2,Q9UIP2,Q9UM43,Q9UQT3,Q9Y4H9,ABM82822,ABM86008,XP_003119292,XP_003119293,XP_003119294,XP_003119295,XP_003119296,XP_003119297,XP_003119298,XP_003119299,XP_003119300,XP_003119301,XP_003119302,XP_003119303,XP_003119304,XP_003119305,XP_003119407,XP_003119408,XP_003119409,XP_003119410,XP_003119411,XP_003119412,XP_003119413,XP_003119414,XP_003119415,XP_003119416,XP_003119417,XP_003119418,XP_003119419,XP_003119420,XP_003119421,XP_003119453,XP_003119454,XP_003119455,XP_003119456,XP_003119457,XP_003119458,XP_003119459,XP_003119460,XP_003119461,XP_003119462,XP_003119463,XP_003119464,XP_003119465,XP_003119466,XP_003119467,A0AAB7,CAM23872 Hs.654404,Hs.656020 D6S204|FLJ27082|HLA-Cw|HLA-Cw12|HLA-JY3|HLC-C|PSORS1 HLA class I antigen|HLA class I heavy chain|HLA class I histocompatibility antigen, C alpha chain|HLA class I histocompatibility antigen, Cw-1 alpha chain|HLA class I histocompatibility antigen, Cw-12 alpha chain|HLA class I histocompatibility antigen, Cw-14 alpha chain|HLA class I histocompatibility antigen, Cw-16 alpha chain|HLA class I histocompatibility antigen, Cw-17 alpha chain|HLA class I histocompatibility antigen, Cw-2 alpha chain|HLA class I histocompatibility antigen, Cw-4 alpha chain|HLA class I histocompatibility antigen, Cw-6 alpha chain|HLA class I histocompatibility antigen, Cw-7 alpha chain|HLA class I histocompatibility antigen, Cw-8 alpha chain|HLA-C (Cw*1201)|HLA-Cw*050x|MHC class I HLA-C|MHC class I HLA-Cw*0803|MHC class I antigen Cw*1|MHC class I antigen Cw*12|MHC class I antigen Cw*14|MHC class I antigen Cw*16|MHC class I antigen Cw*17|MHC class I antigen Cw*2|MHC class I antigen Cw*3|MHC class I antigen Cw*4|MHC class I antigen Cw*6|MHC class I antigen Cw*7|MHC class I antigen Cw*8|MHC class I antigen HLA-C|MHC class I antigen heavy chain HLA-C|MHC class I protein HLA-C heavy chain|OTTHUMP00000165154|class I MHC antigen HLA-B heavy chain|human leukocyte antigen-C alpha chain|leucocyte antigen C|leucocyte antigen Cw|leukocyte antigen-C alpha chain|major histocompatibility antigen HLA-C protein-coding 1346716 HLA-DMA major histocompatibility complex, class II, DM alpha HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq] 1582700,1580863 19913121,20408893,20628086,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,8376762,10631952,11048639,11827988,15489916,17652306,19115949,18779172,18348411,17015729,16864101,16737583,16435885,15723810,15547089,15547082,14754527,12928384,12858445,12794545,12786997,12742663,12728471,12663675,12648225,12477932,12392850,11956296,11881821,11775239,11743588,11739502,11441095,11337467,11180452,11168931,11118314,11070170,10716924,10661406,10322421,9879837,9768757,9759843,9551909,9371817,9311912,8947036,8890155,8849454,8574855,8568858,8225438,8139690,8034636,8026867,1922385,1922365,8084338,9079699,19851445,20237496 1582700 3108 CR936913,U04877,U04878,X76775,X87344,AA649861,AK291858,AU100342,BC011447,BC026279,CR450324,X62744,NG_012006,AL645941,AL662845,NM_006120,AL935042,BX088556,BX908719,CH471081,CR759798,CR752645 CAQ09468,CAQ09469,CAQ08786,CAQ08787,CAQ08788,AAA56993,AAA56994,CAA54169,CAA54170,CAA60781,BAF84547,AAH11447,AAH26279,CAG29320,CAA44606,P28067,Q29878,Q31604,Q6ICR9,ABM83765,ABM87085,CAI18109,NP_006111,CAI17491,CAI18687,CAM26276,CAM26277,CAM26278,CAQ09032,CAQ09033,CAQ09034,EAX03658,EAX03659,EAX03660,CAQ09467 Hs.351279 D6S222E|DMA|HLADM|RING6 HLA class II histocompatibility antigen, DM alpha chain|MHC class II antigen DMA|class II histocompatibility antigen, M alpha chain|really interesting new gene 6 protein protein-coding 1349438 HLA-DMB major histocompatibility complex, class II, DM beta HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq] 1582700,1580863 19913121,20408893,20628086,8406617,8225438,8139690,8034636,7648393,7528727,1922365,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,11048639,11827988,15489916,17652306,19047092,18779172,18506881,18348411,17015729,16864101,16737583,16335952,15787724,15547089,15547082,15489334,14754527,12932352,12858445,12786997,12742663,12663675,12648225,12477932,12392850,11956296,11881821,11775239,11743588,11591653,11441095,11168931,11118314,10885572,10716924,10661406,10631952,10519369,10322421,10209506,9879837,9768757,9759843,9551909,9371817,9311912,9157091,8947036,8920889,8890155,8849454,8757605,8574855,8568858,19767569,19851445,20038641,20237496 1582700 3109 AK295872,AK315979,AY645722,BC017508,BC027175,BC035650,CR407606,CR591828,CR594625,CR611765,U15085,Z23139,NM_002118,AF004827,AF072680,AF134890,AL645941,AL662845,AL935042,AY972536,BX088556,BX927138,CH471081,CR752645,CR759798,CR936913,U00700,U16762,U31743,U32663,X76776,X87344,AB209577,CD742571,DC389968,EL948395 BAD92814,BAG58670,BAH14350,AAV97947,AAH27175,CAG28534,AAB60387,CAA80670,O02952,P28068,Q29702,Q29709,Q52RG1,Q59F83,Q6LEU6,ABM82067,ABM85246,NP_002109,AAB61609,AAC26112,AAD30279,CAI18108,CAI17490,CAI18685,AAX84974,CAQ08457,CAQ08458,EAX03657,CAQ09834,CAQ09835,CAQ08780,CAQ08781,AAA03296,AAC50514,AAC50515,AAC50517,CAA54171,CAA60782 Hs.351279 D6S221E|RING7 HLA class II histocompatibility antigen, DM beta chain|MHC class II HLA-DMB|MHC class II antigen DMB|MHC class II antigen HLA-DM beta chain|OTTHUMP00000178732|class II histocompatibility antigen, M beta chain|really interesting new gene 7 protein protein-coding 1342704 HLA-DOA major histocompatibility complex, class II, DO alpha HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq] 1580863 19913121,20628086,7512597,1978941,1967269,1869305,3000765,11048639,11827988,15489916,17652306,18639552,16806233,16101837,15847654,15817706,15489334,15265882,14574404,12477932,12439622,11118314,10661406,10323340,9311912,9088974,8890155,2991382,2499532,2370084,1999352,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,19458622,19741715,19851445,20237496 3111 NG_012007,AB005991,AB005992,AB005993,AB005994,AB005995,AB005996,AB005997,AB005998,AL645931,AL662845,AL805913,BX005422,CH471081,CR759795,CR759829,CR936909,X02882,NM_002119,AJ420585,AK290714,AK301404,AK310153,AK313551,AY947479,AY947480,AY947481,AY947482,BC013183,M26039,M29335,M31525,M38056,Z81310 CAA26635,NP_002110,BAA81787,BAA81788,BAA81789,BAA81790,BAA81791,BAA81792,BAA81793,BAA81794,CAI18036,CAI17494,CAI18546,CAM26122,EAX03667,EAX03668,CAQ07430,CAP58470,CAQ07150,CAB03594,CAC70064,BAF83403,BAG62939,BAG36327,AAX49509,AAX49510,AAX49511,AAX49512,AAH13183,AAA59716,AAA36253,AAA60075,AAA35992,P06340,Q14535,Q30011,Q5STC8,ABM81974,ABM85152 Hs.631991 HLA-DNA|HLA-DZA|HLADZ HLA class II histocompatibility antigen, DO alpha chain|HLA-D0-alpha|MHC DN-alpha|MHC DZ alpha|MHC class II antigen DOA|lymphocyte antigen|major histocompatibility complex, class II, DN alpha protein-coding 1346079 HLA-DOB major histocompatibility complex, class II, DO beta HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq] 1580863 2998758,8890155,11048639,11827988,15489916,17652306,15847654,15730525,15489334,15265882,12477932,12445321,12439622,11823510,11118314,10661406,9311912,9088974,8568858,8458375,3036827,2499532,1453454,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,9759843,19851445,20237496,20379614 3112 NM_002120,NG_012008,AB035249,AL669918,AL671681,CH471081,CR762476,CT009502,L29472,X66401,X87344,AK301415,AK316197,AY645723,BC006097,BC020226,BM152694,BQ010608,CR541811,CR541832,M26040,X03066,BX296564,CR788227 NP_002111,CAI18134,CAI17709,EAX03638,EAX03639,EAX03640,EAX03641,CAQ08488,CAQ07775,AAA59717,CAA47028,CAA60789,BAH13478,BAH14568,AAV97948,AAH06097,CAG46610,CAG46631,AAA59718,CAA26870,P13765,Q5QNS2,Q6FHE3 Hs.1802 DOB|FLJ57033 HLA class II histocompatibility antigen, DO beta chain|MHC class II antigen DOB protein-coding 1605730 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq] 19913121,20595243,20628086,20668555,2461352,11048639,11827988,15489916,17652306,19349983,19200828,19143818,19143812,18784467,18593440,17785583,17234427,17060025,16465617,16098233,16042197,15713216,15663751,15603877,15304007,15191952,15121303,15041165,12956878,12910711,12899833,12778461,12707403,12580031,12477932,12445315,12073072,11777970,11556979,11118314,11019928,10958363,10661406,10090623,9694359,9366419,8773319,8649448,8454872,7912458,7725312,6584734,6325928,6300884,3266023,3036829,2997750,2987832,2578218,10729169,8084338,9079699,8376762,7602119,3489470,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,16242130,19589487,19722042,19795399,19851445,19896518,20237496,20376809,20424227,20462405,20470845 3113 AY375833,AY375834,AY375835,AY375836,AY375837,AY375838,AY375839,AY375840,AY603382,AY603383,AY603384,AY603385,AY603386,AY618552,AY618553,AY650051,BX005422,BX120009,CH471081,CR759795,CR759829,CR759904,CR762479,AF013767,AF015295,AF074847,AF074848,AF076284,AF076285,AF092049,AF098794,AF165160,AF346471,AL645931,AL662824,AL805913,AY335522,AY335523,AY335524,AY335525,AY335526,AY335527,AY335528,AY335529,AY335530,AY335531,AY335532,AY335533,AY335534,AY335535,AY335536,AY335537,AY335538,AY335539,AY335540,AY335541,AY335542,AY335543,AY335544,AY375760,AY375761,AY375762,AY375763,AY375764,AY375765,AY375766,AY375767,AY375768,AY375769,AY375770,AY375771,AY375775,AY375780,AY375781,AY375787,AY375791,AY375827,AY375828,AY375829,AY375830,AY375831,AY375832,NM_033554,CR847849,DQ274060,DQ274061,K00514,M23903,M23904,U87556,X02228,X03100,X78199,X82393,X82394,AK292709,BC009956,CR601798,CR617728,M27487,X00457 AAQ84202,AAQ84203,AAQ84204,AAQ84205,AAQ84206,AAQ84207,AAQ84208,AAQ84209,AAT39912,AAT39913,AAT39914,AAT39915,AAT39916,AAT92096,AAT92097,AAT67468,CAM26119,CAM25980,CAM25981,CAM25982,CAM25983,EAX03669,EAX03670,EAX03671,CAQ07433,CAQ07261,CAQ09865,CAQ10344,Q67AU8,Q67AU9,Q95HB9,Q9TPP2,Q9TQA9,Q9TQB0,Q9XS09,ABM84389,ABM87323,Q67AU7,NP_291032,AAC64233,AAC61669,AAD39684,AAD39685,AAD42927,AAD42928,AAF00051,AAC72845,AAD47826,AAK27152,CAI18040,CAI18041,CAI17598,CAI17600,CAI18549,AAR01827,AAR01829,AAR01831,AAR01833,AAR01835,AAR01837,AAR01839,AAR01841,AAR01843,AAR01845,AAR01847,AAR01849,AAR01851,AAR01853,AAR01855,AAR01857,AAR01859,AAR01861,AAR01863,AAR01865,AAR01867,AAR01869,AAR01871,AAQ84179,AAQ84180,AAQ84181,AAQ84182,AAQ84183,AAQ84184,AAQ84185,AAQ84186,AAQ84187,AAQ84188,AAQ84190,AAQ84189,AAQ84191,AAQ84192,AAQ84193,AAQ84194,AAQ84195,AAQ84196,AAQ84197,AAQ84198,AAQ84199,AAQ84200,AAQ84201,CAQ10345,CAQ10346,CAQ10347,CAQ07485,ABB88406,ABB88407,AAA59786,AAB97110,CAA26148,CAA26887,BAF85398,AAH09956,AAA63220,CAA25143,O19680,O78000,O98050,P20036,Q29ZN0,Q29ZN1,Q29ZN2,Q29ZN3,Q29ZN4,Q49U27,Q49U29,Q49U31,Q49U33,Q49U35,Q49U37,Q49U39,Q49U41,Q49U43,Q49U45,Q49U47,Q49U49,Q49U51,Q49U53,Q49U55,Q49U57,Q49U59,Q49U61,Q49U63,Q49U65,Q49U67,Q49U69,Q49U71,Q59GQ1,Q5EY04,Q5STN9,Q5STP1,Q67AL9,Q67AM0,Q67AM1,Q67AM2,Q67AM3,Q67AM4,Q67AM5,Q67AM6,Q67AM7,Q67AM8,Q67AM9,Q67AN0,Q67AN1,Q67AN2,Q67AR8,Q67AS2,Q67AS8,Q67AS9,Q67AT4,Q67AT8,Q67AT9,Q67AU0,Q67AU1,Q67AU2,Q67AU3,Q67AU4,Q67AU5,Q67AU6 Hs.347270 HLA-DP1A|HLADP|HLASB|PLT1 DP(W3)|DP(W4)|HLA class II histocompatibility antigen, DP alpha 1 chain|HLA class II histocompatibility antigen, DP alpha chain|HLA-SB alpha chain|MHC class II DP3-alpha|MHC class II DPA1|MHC class II HLA-DPA1 antigen|MHC class II antigen|OTTHUMP00000029066|OTTHUMP00000029067|OTTHUMP00000178770|Primed lymphocyte test-1 protein-coding 1344682 HLA-DPA2 major histocompatibility complex, class II, DP alpha 2 (pseudogene) 6597088 646702 NG_009861,AL645931,X01634,AL662824,AL845446,BX120009,CR759795,CR759904,CR762479,CR847849 HLA-DP2A pseudo 1348324 HLA-DPA3 major histocompatibility complex, class II, DP alpha 3 (pseudogene) 10452889 267013 NG_011547,AL031228,AL645940,AL662824,BX120009,CR759733 dJ1033B10.14 pseudo 1347386 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq] 1580863 20595243,20628086,20668555,19913121,20136549,16242130,19439981,19565552,19589487,19596691,19635517,19761839,19851445,19896518,19950302,19965521,20073992,20139279,20191588,20237496,20298583,20300120,20376809,20424227,20462405,20466734,20518290,20522202,11048639,11827988,15489916,17652306,19392621,19349983,19299434,19200828,19180512,19165231,19148140,19143818,19143813,19140826,19104471,19027490,18997170,18976440,18976432,18958335,18952831,18830248,18778327,18652916,18569076,18544086,18486765,18334973,18309376,18186799,18167262,18001300,17989893,17977207,17967832,17964196,17900288,17785583,17726164,17697965,17653770,17622527,17559577,17554059,17513705,17493157,17388766,17349874,17317585,17311339,17153701,17117948,17060025,17026464,17014432,16937440,16890179,16866899,16866883,16796127,16792590,16714073,16698425,16459716,16453260,16441488,16386646,16322289,16317094,16234356,16189666,16147881,16096810,16019679,15982263,15982255,15969672,15784113,15750822,15730526,15712014,15703957,15703453,15655774,15640334,15603877,15446291,15361135,15361132,15343265,15304007,15277401,15273960,15194283,15112906,15104683,15041165,15007363,14662898,14576061,14508706,12956878,12892399,12890000,12878786,12878363,12844410,12823769,12778461,12774051,12721173,12694588,12694578,12651073,12615603,12542744,12477932,12464650,12445315,12445309,12390706,12175732,12144625,12144621,12100571,12075003,12047363,11984513,11975985,11972883,11953976,11929590,11782272,11716174,11668578,11592043,11556983,11556979,11532022,11401923,11393660,11318984,11298597,11294566,11291046,11285127,11260508,11169249,11169242,11118314,11050177,11034567,11027344,10958363,10661406,10090623,9756411,9756410,9174146,8851734,8781129,8773318,8649448,8525482,8420834,8244783,8236237,8106267,8105536,8085260,7940502,7912859,7901923,7839356,7817379,7806296,6330724,6325928,6310612,6098459,6088068,3866218,3474276,3036829,3015787,2998758,2997750,2987832,2878910,2838415,2714855,2542966,2512583,2460556,2456351,2242906,1832848,1713190,1529429,1412416,1362295,1358867,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8356059,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,20013806,20981823,21049023 3115 AF336227,AF336228,AF336229,AF336230,AF336231,AF372451,AF372452,AF462072,AF489518,AF492636,AF492637,AF492638,AF492639,AF492640,AF492641,AF492642,AF492643,AF517128,AF536241,AF549409,AJ238005,AJ245640,AJ271373,AJ292074,AJ297820,AJ514871,AJ563603,AJ563604,AJ581676,AJ810847,AL645931,AL662824,AL805913,AL845446,AM039828,AM158320,AM408787,AY029777,AY033075,AY335522,AY335523,AY335524,AY335525,AY335526,AY335527,AY335528,AY335529,AY335530,AY335531,AY335532,AY335533,AY335534,AY335535,AY335536,AF549410,AY335537,AY335538,AY335539,AY335540,AY335541,AY335542,AY335543,AY335544,AY374100,AY375772,AY375774,AY375776,AY375779,AY375782,AY375783,AY375784,AY375785,AY375788,AY375790,AY375796,AY375797,AY375800,AY375804,AY375805,AY375806,AY375807,AY375808,AY375809,AY375810,AY375811,AY375812,AY375813,AY375814,AY375815,AY375816,AY375817,AY375818,AY375819,AY375820,AY375821,AY375822,AY375823,AY375824,AY375826,AY425707,AY572830,AY582141,AY618897,AY823995,AY855160,AY855161,BX120009,CH471081,CR762479,D10478,D10479,D10834,D10882,D13174,D14344,D28809,DQ089022,DQ100371,DQ148299,DQ206450,DQ282119,DQ386161,DQ485789,K03014,L07768,L09236,L17310,L17311,L17313,L17314,L22076,L22077,L23400,L29174,M23675,M23676,M23677,M23678,Y18498,Z92523,AK313305,AY656678,AY656679,AY656680,AY804132,AY804133,AY804134,AY804135,AY804136,AY804137,AY804138,AY804139,AY804140,AY804141,AY804142,AY804143,AY831401,AY831402,AY831403,AY831404,BC007963,BC013184,BC015000,BT019780,CR602959,CR605846,CR608651,CR619088,DQ284441,J03041,K00409,K01615,L29173,M21886,M28200,M28201,M28202,M57466,M83664,X00532,X01426,X03067,CR759795,CR759904,CR847849,M83916,M83917,M83918,M83919,M84014,M85222,M85223,S53170,S70106,S72495,U22311,U22312,U22313,U29534,U34033,U59437,U59438,U59439,U59440,U59441,U59442,X02228,X03022,X03023,X03024,X03025,X03026,X03027,X03028,X03100,X80331,X80752,X82123,X96986,X97406,Y08862,Y09327,Y13900,Y14230,Y16095,GQ891549,XM_003119096,XM_003119097,XM_003119098,XM_003119099,XM_003119100,XM_003119101,XR_113857,AK291986,AB247517,AF041252,AF074845,AF074846,AF077015,AF180970,AF184168,AF211979,AF234538,AF280405,AF288354,AF288355,AF326565,AF335225,AF335226,AF335227,AF335228,AF335229,AF336222,AF336223,AF336224,AF336225,AF336226,NM_002121,M23679,M23680,M23681,M23682,M23683,M23685,M23686,M23687,M23906,M23907,M23908,M31778,M31780,M31781,M58608,M62326,M62327,M62328,M62329,M62330,M62331,M62332,M62333,M62334,M62335,M62337,M62338,M62340,M62341,M62342,M62343,M62344,M63508,M83912,M83913,M83914,M83915 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Hs.485130 DPB1|HLA-DP1B|HLA-DPB HLA DP14-beta chain|HLA class II histocompatibility antigen, DP beta 1 chain|HLA class II histocompatibility antigen, DP(W4) beta chain|HLA-DP histocompatibility type, beta-1 subunit|MHC HLA DPB1|MHC class II HLA-DP-beta|MHC class II HLA-DP-beta-1|MHC class II HLA-DRB1|MHC class II antigen DP beta 1 chain|MHC class II antigen DPB1|MHC class II antigen DPbeta1|MHC class II antigen beta chain|OTTHUMP00000029091|beta1 domain MHC class II HLA DPB|major histocompatibility complex class II HLA DPB1 protein protein-coding 1350878 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) 20587610,18682748,12477932,3036829,19950302,20031603 3116 NR_001435,AL645931,AL645940,AL662824,AL845446,M23909,M23910,M23911,AK301188,BC017967,XM_003119335,BX120009,CR759733,CR759795,CR847849,CR936877,CT009497 BAG62770,XP_003119383 Hs.665450 DP2B|DPB2|DPbeta2|HLA-DP2B pseudo 1351810 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq] 2301816,2301812,2301814,2301815,2301817,2301813,2301811,2301818,1580863 19913121,20561992,20569042,20587610,20595243,20608062,20617178,20628086,20639878,20668555,20718347,20798335,20800921,20410501,20694011,15476152,15471368,15448101,15361135,15347442,15346196,15336779,15323271,15310011,15309343,15307871,15305487,15303984,15301863,15300424,15298337,15259342,15257408,15250035,15245541,15243926,15237447,15231205,15227724,15219382,15192842,15191952,15191519,15174785,15164528,15121303,15120193,15120190,15112906,15109436,15107633,15089901,15083289,15077289,15070884,15059369,15055351,15049049,15041165,15030582,15027205,15019597,15016191,15009387,15009181,15003812,14990915,14964841,14752708,14740435,14734754,14700596,14700595,14651526,14651525,14641517,14623754,14607903,14602216,14592217,14581805,14574404,14562382,14550622,14527201,14522093,13130476,12974796,12974555,12956878,12948297,12944708,12941548,12941547,12921878,12911285,12890388,12823770,12786999,12778461,12771724,12765483,12753657,12734793,12687342,12667357,12666382,12665014,12665010,12665009,12651074,12651073,12648281,12639765,12594107,12507821,12493453,12485471,12477932,12464650,12453977,12445319,12443029,12421937,12370403,12364641,12358854,12242468,12242463,12212201,12209609,12189808,12165956,12151439,12149602,12144633,12144622,12139680,12137324,12125959,12121676,12100571,12074713,12070003,12063795,12050583,12039527,12027934,12021152,12021150,12021143,12021139,12021137,12021131,12021129,11997714,11994765,11972882,11181188,11179016,11171832,11169241,11168337,11165718,11157139,11146462,11118314,11118029,11115839,11098934,11097225,11082517,11082516,11082515,11034591,11024583,11014350,10661406,10395113,9497251,9349615,9271631,8929711,8896565,7974465,6815651,6585297,6584734,6576979,3879967,3610256,3372263,3259543,3129499,3036828,2892884,2888727,2777341,2513578,11972877,11972875,11953202,11950806,11935333,11929591,11929590,11929589,11920855,11916169,11916167,11914753,11904677,11903620,11900275,11895223,11891937,11862400,11845225,11841488,11839711,11836690,11836687,11819534,11802952,11798899,11783381,11782273,11780465,11776160,11776098,11724418,11718025,11716174,11704285,11704283,11678832,11678027,11672906,11580849,11556984,11555411,11543893,11543892,11532022,11502807,11495087,11482129,11477477,11476905,11454644,11428493,11424637,11334677,11318984,11294926,11294566,11289148,11272094,11263477,11261221,11260506,11257148,11246532,11222331,11218373,11195230,11182227,2493052,2212675,1362295,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,15853900,15853899,15842729,15834022,15826953,15789899,15780746,15756536,15750822,15735807,15725578,15713222,15703957,15699512,15699508,15699500,15691311,15688398,15660729,15652424,15643010,15642902,15622476,15613143,15603874,15602651,15572392,15565951,15548263,15535834,15530631,15529361,15522921,15498363,15496201,15489334,15479890,3584986,6415485,2300572,11048639,11827988,15489916,17652306,19429597,19410617,19407364,19401421,19380721,19349081,19332095,19299434,19295542,19286445,19255754,19254257,19254248,19251712,19210322,19207936,19200845,19200828,19196481,19167759,19159415,19154326,19143821,19143820,19143818,19143812,19143811,19143810,19124916,19120278,19120276,19116923,19055605,19052351,19052350,18987854,18987644,18932050,18930994,18852273,18780165,18774995,18769865,18758464,18756979,18728522,18726686,18721466,18694972,18668548,18593440,18592918,18585974,18569076,18565729,18562179,18535809,18523354,18509540,18504544,18449200,18427198,18401547,18381784,18356750,18347100,18339073,18331414,18316396,18292987,18292551,18282752,18279642,18273034,18273032,18257894,18252895,18241227,18240225,18236804,18211635,18204098,18200971,18198357,18177450,18084828,18073310,17387388,17350686,17344279,17329717,17306585,17305280,17257319,17234427,17203524,17182961,17133612,17062033,17029208,17021767,17016821,16964961,16941709,16922942,16916661,16911023,16891216,16890179,16890076,16883543,16883532,16879749,16878175,16875346,16866887,16865785,16849401,16836882,16831288,16829307,16803690,16792673,16733891,16731854,16720217,16720211,16712649,16709874,16698430,16691379,16690412,16629714,16609350,16579847,16567828,16540751,16507114,16484124,16464953,16451208,16433795,16430717,16409268,16390391,16386646,16343061,16331578,16277897,16276008,16267409,16254435,16234023,16231148,16225776,16169070,16142706,16112029,16101833,16096857,16049290,16042197,15996167,15993714,15935893,15908298,15900489,15871822,15863864,15853903,18039812,18038917,18036312,18028350,18007983,18003662,17997607,17919990,17919266,17911430,17906106,17900288,17893434,17869653,17845309,17785583,17722299,17714903,17714036,17678725,17673320,17662590,17661909,17652848,17641683,17604825,17584581,17578052,17559688,17558408,17541908,17505501,17498269,17489940,17484621,17460569,17445173,17445172,17406854,18057383,20559009,20725783,20739684,20843162,20849903,20966625,20981823,21049023,21059899,21067613,21072187,21131588,16242130,17554300,18978792,19122664,19474744,19478349,19479859,19493426,19500688,19539001,19543113,19544559,19561379,19565552,19571809,19571811,19585166,19587357,19589487,19596691,19597844,19654877,19698125,19722042,19769302,19811310,19833889,19837788,19845915,19851445,19858318,19884265,19890026,19895409,19896518,19906105,19956635,19961590,20014019,20018961,20031464,20061363,20073143,20075704,20138312,20169624,20190752,20210919,20337975,20380523,20443243,20445565,20462039,20472930,20492597,20492599,20522202 2301816,2301812,2301814,2301815,2301817,2301813,2301811,2301818 3117 AK297065,AB006908,AF109734,AF126253,AF322870,AF395700,AF515807,AF515808,AF515809,AF515810,AF515811,AF515812,AF515813,AJ296092,AL662789,AL928759,AM042559,AM042560,AM286275,AM286276,AM286277,AY180974,AY197775,AY206406,AY375878,AY375879,AY375880,NM_002122,AY375881,AY375883,AY375885,AY375887,AY375889,AY375891,AY375893,AY375895,AY375896,AY375898,AY375900,AY375902,AY375904,AY375905,AY375907,AY375909,AY375911,AY375912,AY375913,AY375914,AY375915,AY375916,AY375917,AY375918,AY375919,AY375920,AY375921,AY375922,AY375931,AY375932,AY375933,AY375934,AY375935,DQ178407,DQ178411,DQ178415,M17236,M29613,M29616,M34999,M83887,S75685,U03675,U85035,U92032,U97555,Z84489,AB209628,AF012768,AF522250,AF533895,AF533896,AF533897,AF533898,AF533899,AF533900,AF533901,AF533902,AF533903,AF533904,AF533905,AF533906,AF533907,AF533908,AF533909,AF533910,AF533911,AF533912,AF533913,AF533914,AF533915,AF533916,AF533917,AF533918,AF533919,AF533920,AF533921,AF533922,AF533923,AF533924,AF533925,AF533926,AF533927,AF533928,AF533929,AF533930,AF533931,AF533932,AF533933,AF533934,AF533935,AF533936,AF533937,AF533938,AF533939,AY375937,AY375938,AY375939,AY375940,AY375941,AY375942,AY375943,AY375944,AY375945,AY375946,AY375947,AY375948,AY375949,AY375951,AY375952,AY375953,AY375954,AY375955,AY375956,AY375957,AY375958,AY375959,AY375960,AY375961,AY375962,AY375963,AY375964,AY375965,AY375970,AY375972,AY375973,AY375974,AY375978,AY375979,AY375980,AY375981,AY375982,AY375983,AY375984,AY375985,AY375986,AY375987,AY547314,AY585236,AY663394,AY663395,AY663396,AY663397,AY663400,AY663405,AY663406,AY663408,AY663409,AY663411,AY663412,AY663413,AY663414,AY663415,CH471415,DQ178403,AY375936,AF533940,AK130598,AK130811,AK130838,AK313975,BC008585,BC051832,BC073977,BC125044,BC125045,BU617246,CR450297,DQ284436,DQ284437,DQ284438,DQ284439,DQ284440,L34082,L34083,L34084,L34085,L34086,L34087,L34088,L34090,L34091,L34092,L34093,L34094,L42625,L46875,M16995,M17846,M17847,M18935,M20431,M20506,M26041,M33906,M34996,M59802,U77589,X00033,X00370,X00452 BAG59586,NP_002113,BAA22189,AAD56720,AAD49219,AAK11577,AAM69677,AAM74914,AAM74915,AAM74916,AAM74917,AAM74918,AAM74919,AAM74920,CAC88114,CAI18230,CAJ14960,CAJ14961,CAL08011,CAL08012,CAL08013,AAO23559,AAO45622,AAO47362,AAQ91106,AAQ91107,AAQ91109,AAQ91110,AAQ91111,AAQ91112,AAQ91113,AAQ91114,AAQ91115,AAQ91433,AAQ91390,AAQ91434,AAQ91435,AAQ91436,AAQ92909,AAQ91391,AAQ92910,AAQ92911,AAQ92912,AAQ91392,AAQ91393,AAQ91394,AAQ91395,AAQ91396,AAQ91397,AAQ91398,AAQ91399,AAQ91400,AAQ91401,AAQ91402,AAQ91411,AAQ91412,AAQ91413,AAQ91414,AAQ91108,ABA86856,ABA86857,ABA86858,AAA59756,AAA59759,AAA74633,AAA59757,AAB32621,AAB60341,AAB41891,AAB91990,AAB58310,CAB06491,BAD92865,AAB70189,AAP80750,AAM94809,AAM94810,AAM94811,AAM94812,AAM94813,AAM94814,AAM94815,AAM94816,AAM94817,AAM94818,AAM94819,AAM94820,AAM94821,AAM94822,AAM94823,AAM94824,AAM94825,AAM94826,AAM94827,AAM94828,AAM94829,AAM94830,AAM94831,AAM94832,AAM94833,AAM94834,AAM94835,AAM94836,AAM94837,AAM94838,AAM94839,AAM94840,AAM94841,AAM94842,AAM94843,AAM94844,AAM94845,AAM94846,AAM94847,AAM94848,AAM94849,AAM94850,AAM94851,AAM94852,AAQ91415,AAQ91416,AAQ91417,AAQ91418,AAQ91419,AAQ91420,AAQ91421,AAQ91422,AAQ91423,AAQ91424,AAQ91425,AAQ91426,AAQ91427,AAQ91428,AAQ91429,AAQ92913,AAQ91430,AAQ91431,AAQ91432,AAQ89959,AAQ89960,AAQ89961,AAQ89962,AAQ89963,AAQ89964,AAQ89965,AAQ89966,AAQ89967,AAQ89968,AAQ89969,AAQ89974,AAQ89976,AAQ89977,AAQ89978,AAQ89982,AAQ89983,AAQ89984,AAQ89985,AAQ89986,AAQ89987,AAQ89988,AAQ89989,AAQ89990,AAQ89991,AAS49496,AAT09985,AAU87975,AAU87978,AAU87981,AAU87984,AAU87992,AAU88004,AAU88007,AAU88013,AAU88016,AAU88022,AAU88025,AAU88028,AAU88031,AAU88034,EAW50504,EAW50505,ABA86855,Q67AA5,Q67AA6,Q67AA7,Q67AA8,Q67AA9,Q67AB0,Q67AB1,Q67AB2,Q67AB3,Q67AB4,Q67AB5,Q67AB6,Q67AB7,Q67AB8,Q67AB9,Q67AC0,Q67AC1,Q67AC2,Q67AC3,Q67AC4,Q67AC5,Q67AC6,Q67AC7,Q67AC8,Q67AC9,Q67AD0,Q67AD1,Q67AD2,Q67AD3,Q67AD4,Q67AD5,Q67AD6,Q67AD7,Q67AD8,Q67AD9,Q67AE0,Q67AE1,Q67AE2,Q67AE3,Q67AE4,Q67AE5,Q67AE6,Q67AE7,Q67AE8,Q67AE9,Q67AF0,Q67AF1,Q67AF2,Q67AF3,Q67AF4,Q67AF5,Q67AF6,Q67AF7,Q67AF8,Q67AF9,Q67AG0,Q67AG1,Q67AG2,Q67AG3,Q67AG4,Q67AG5,Q67AG6,Q67AG7,Q67AG8,Q67AG9,Q67AH0,Q67AH1,Q67AH2,Q67AH3,Q67AH4,Q67AH5,Q67AH6,Q67AH7,Q67AH8,Q67AH9,Q67AI0,Q67AI1,Q67AI2,Q67AI3,Q67AI4,Q67AI5,Q67AI6,Q6DKG8,Q7YPT8,Q861G0,Q8MH00,Q8MH01,Q8MH02,Q8MH03,Q8MH04,Q8MH05,Q8MH06,Q8MH07,Q8MH08,Q8MH09,Q8MH10,Q8MH11,Q8MH12,Q8MH13,Q8MH14,Q8MH15,Q8MH16,Q8MH17,Q8MH18,Q8MH19,Q8MH20,Q8MH21,Q8MH22,Q8MH23,Q8MH24,Q8MH25,Q8MH26,Q8MH27,Q8MH28,Q8MH29,Q8MH30,Q8MH31,Q8MH32,Q8MH33,Q8MH34,Q8MH35,Q8MH36,Q8MH37,Q8MH38,Q8MH39,Q8MH40,Q8MH41,Q8MH42,Q8MH43,Q8MH44,Q8MH45,Q8MH50,Q8MH51,Q8MH52,Q8MH53,Q8MH54,Q8MH55,Q8MH56,Q9TQ69,Q9UEF5,Q9UM30,ABM82461,ABM85650,AAM94854,BAG36689,AAH08585,AAH73977,AAI25045,AAI25046,CAG29293,ABC66202,ABC66203,ABC66204,ABC66205,ABC66206,AAC41950,AAC41951,AAC41952,AAC41953,AAC41954,AAC41955,AAC41956,AAC41958,AAC41959,AAC41960,AAC41961,AAC41962,AAA85334,AAA59760,AAA59707,AAA59708,AAA59784,AAA59758,AAA59774,AAA36267,AAA52671,AAA35771,AAA64233,AAB51233,CAA24917,CAA25141,O19501,O19522,O19703,O19704,O19705,O19760,O19765,P01909,Q08AS3,Q08AS4,Q14K62,AAM94853,Q14K63,Q14K64,Q29782,Q29882,Q29885,Q29995,Q2LIQ8,Q2LIR1,Q30062,Q30063,Q30065,Q30066,Q30069,Q30085,Q30125,Q30216,Q59F33,Q5Y7A8,Q5Y7C3,Q5Y7C6,Q5Y7C9,Q5Y7D2,Q5Y7F8,Q5Y7G1,Q5Y7H0,Q67A92,Q67A93,Q67A94,Q67A95,Q67A96,Q67A97,Q67A98,Q67A99,Q67AA0,Q67AA1,Q67AA2,Q67AA3,Q67AA4 Hs.591798,Hs.387679 CD|CELIAC1|DQ-A1|FLJ27088|FLJ27328|GSE|HLA-DQA|MGC149527 DC-1 alpha chain|DC-alpha|HLA class II histocompatibility antigen, DQ alpha 1 chain|HLA class II histocompatibility antigen, DQ(W3) alpha chain|HLA-DCA|MHC HLA-DQ alpha|MHC class II DQA1|MHC class II HLA-D alpha glycoprotein|MHC class II HLA-DQ-alpha-1|MHC class II antigen|MHC class II surface glycoprotein|OTTHUMP00000178551|leucocyte antigen DQA1|leukocyte antigen alpha chain protein-coding 1350485 HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 1580863 20711174,20587610,15489916,17652306,19116923,18668548,18065200,12477932,11535811,11376336,11118314,10661406,9036956,8026991,6584734,6300884,3610256,3372263,2513578,1612647,1362295,10729169,8084338,12427289,8168144,7541827,2846691,2543930,9079699,8376762,7602119,3489470,3036828,11048639,11827988,7512597,1978941,1967269,1869305,17554300,19851445,20159242,20237496,20305777,20596022 3118 NM_020056,AL672104,AL713890,AL773543,BX248406,BX927131,BX927160,BX927168,CR753846,CR759848,CR936921,K00513,M17237,M29614,M29615,M34997,M76219,X00453,Z84490 NP_064440,CAI18437,CAI17623,CAI18490,CAQ09761,CAQ07312,AAA36249,AAA59605,AAA59834,AAA35772,AAA59761,CAA25142,CAB06493,O19697,P01906,Q30087 Hs.591798 DX-ALPHA|HLA-DXA DX alpha chain|HLA class II histocompatibility antigen, DQ alpha 2 chain|HLA class II histocompatibility antigen, DQ(6) alpha chain|HLA-DQA1|MHC class II DQA2 protein-coding 1353906 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-DQB1 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq] 1580863,4144113,4144112 20141578,20549830,20550778,20561992,20586801,20595243,20595679,20603341,20606439,20608062,20614846,20631027,20639878,20666704,20668555,20670354,20684489,20685690,20691532,20711174,20719952,20798335,20805278,18824733,18821214,18820539,18801688,18780165,18778327,18774995,18769865,18756979,18728523,18728522,18852273,18839133,18726686,18722491,18721466,18706091,18689790,18652916,18636124,18599937,18593440,18573919,18569076,18565729,18562179,18561316,18556337,18554163,18552411,18544086,18537178,18535809,18523354,18509540,18504544,18496418,18495081,18481581,18451182,18450852,18449200,18447907,18433881,18427198,18408266,18401547,18396213,18390988,18385790,18372357,18356750,18356404,18352820,18351579,17681393,17678725,17673320,17662002,17661909,17653284,17652848,17641683,17631742,17629023,17610416,17605936,17592398,17588142,17586554,17584585,17584581,17578052,17578051,17576097,17573956,17559688,17559577,17554059,17541908,17538887,17531857,17513705,17498269,17489940,17489060,17484883,17484621,17461431,17460569,17445173,17445172,17438108,17437273,17433060,17407088,17406941,17406854,17406641,17392350,17389030,17389015,17389012,17388766,17387388,17379283,17378697,17370149,17364902,17350686,17349874,17344279,17334650,17329717,17325942,17318773,17311339,17310371,17306585,17305280,17301827,17297265,17287608,17257319,17257313,17256150,17237562,17234427,17212715,17212706,17207713,17203524,17203517,17190762,17180363,17162989,17153701,17144392,17143607,17130569,17130566,17130528,17129633,17126830,17124999,17119950,17106278,17062033,17050030,17047287,17026464,17016821,17002906,17002902,18345414,16988007,16112029,16109069,16107953,16107511,16101833,16096857,16096810,16078082,16053028,16049290,16043129,16042197,16042135,16029431,16025255,16019679,16011982,16005527,16005098,15996167,15993720,15993714,15991024,15985473,15982255,15969672,15958261,15941540,15935893,15908298,15906352,15902698,15885635,15871822,15858601,15854524,15853909,15853903,18339073,18332098,18331414,18316396,18312480,18312478,18301962,18295738,18292987,18289678,18282752,18279642,18279373,18273034,18273032,18272668,18259107,18257894,18252895,18248305,18241860,18241227,18236804,18211635,18200971,18198357,18177450,18155707,18086267,18085741,18084828,18073310,18070207,18065518,18065200,18057383,18053473,18039812,18038917,18036860,18036312,18036100,18028350,18022727,18007983,18003662,18001300,17999653,17997607,17989838,17971177,17967566,17964196,17956579,17936227,17927716,17919990,17919266,17911430,17906106,17900288,17893434,17875181,17869653,17845309,17785916,17785583,17767551,17767549,17726164,17722421,17714903,17714036,17688234,17686102,19255754,19254257,19254255,19254248,19251712,19246116,19230186,19227412,19223392,19210322,19208355,19207936,19204159,19200845,19200828,19188433,19184295,19176112,19154326,19143821,19143820,19143818,19143814,19143813,19143812,19143811,19143810,19127454,19124916,19122664,19120278,19120276,19120272,19117368,19116923,19104471,19055605,19052351,19041429,19030725,19027490,19027045,19023492,19013100,19005023,19000139,18987854,18987644,18976440,18976432,18958335,18955792,18955791,18932050,18930994,18854880,16966600,16964961,16948649,16941709,16939368,16922942,16916662,16916661,16911023,16905561,16893387,16891216,16890179,16890076,16883543,16883536,16883535,16879749,16879301,16878175,16875346,16866885,16866883,16865785,16857416,16849401,16836882,16829309,16829307,16803690,16803516,16802776,16799707,16796128,16792673,16783473,16781300,16769963,16731854,16720217,16720210,16712649,16709874,16698430,16691379,16640876,16629714,16614815,16604509,16579847,16573562,16567828,16540751,16509868,16507114,16484124,16473309,16464953,16453260,16451208,16441489,16441488,16437632,16433795,16430717,16426242,16425277,16420246,16409268,16405603,16393997,16390391,16386650,16386646,16365741,16358956,16352685,16343061,16337001,16320082,16303674,16297186,16277691,16276008,16267776,16261886,16254435,16245224,16237774,16234023,16231148,16225776,16208405,16201295,16188098,16180280,16158194,16157380,16148166,16142706,16133177,16125818,16122986,16112030,11914751,11904677,11903620,11900275,11895223,11894970,11888582,11881821,11872662,11872237,11864433,11862400,11845225,11841486,11841366,11839711,11812768,11804200,11802952,11802942,11783381,11782273,11782272,11780465,11776160,11776098,11752507,11736906,11724419,11724418,11723075,11704285,11683403,11679920,11678832,11678027,11672906,11600541,11592043,11588129,11580849,11556984,11555411,11543893,11532022,11502807,11495087,11484084,11477477,11476906,11476905,15104683,15096192,15095040,15089901,15089899,15083289,15070884,15061705,15059369,15057902,15055351,15049049,15041165,15037989,15030582,15019597,15016191,15014429,15013978,15009808,15009387,15009181,15003812,14995006,14990915,14988284,14967485,14964841,14769912,14762600,14752708,14740435,14718045,14702039,14700596,14700595,14694619,14693734,14686115,14680508,14679080,14677183,14675393,14669136,14662898,14655281,14648147,14623754,14617034,14602216,14592217,14581805,14567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4144113,4144112 3119 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NP_002114,BAA19528,BAD95610,AAD39697,AAC64403,AAC64605,AAD23990,AAD23991,AAD54423,AAD56412,AAF63192,AAK17120,AAK17121,AAK17122,AAK17123,AAM53072,AAL35222,AAL66389,AAL77085,AAM09472,AAM28883,CAA04630,CAA04631,CAA09928,CAA09929,CAA09990,CAA11215,CAC27418,CAD47822,CAD59445,CAD89801,CAD97476,CAH69441,CAI79639,CAI18445,CAI18446,CAJ57391,CAJ76977,CAJ76978,CAJ90955,CAJ90956,CAK50560,CAL25326,CAL64838,AAK01944,AAK96012,AAK96013,AAM14401,AAM94360,AAP78473,AAP93137,AAP94731,AAQ88016,AAQ88017,AAQ88018,AAQ88019,AAQ88020,AAQ88021,AAQ88022,AAQ88023,AAQ88024,AAQ88025,AAQ88026,AAQ88027,AAQ88028,AAQ88029,AAQ88030,AAQ88031,AAQ88032,AAQ88033,AAQ88034,AAQ88035,AAQ88036,AAQ88037,AAQ88038,AAQ88039,AAQ88040,AAQ88041,AAQ88042,AAQ88043,AAQ88044,AAQ88045,AAQ88046,AAQ88047,AAT39543,AAU87973,AAU87977,AAU87980,AAU87982,AAU87986,CAI18231,AAC41970,AAC41971,AAC41972,AAC41973,AAC41974,AAC41975,AAC41976,AAA92331,AAA92332,AAA85335,AAA59807,AAA36268,AAA59823,AAA59770,AAA59698,AAA59696,AAA59697,AAA59764,AAA59765,AAA59766,AAA36269,AAA52319,AAA59769,AAA59773,AAA59767,AAA59820,Q30133,Q30146,Q30153,Q30155,Q30202,Q3LTJ5,Q45FY0,Q4VC54,Q4VC55,Q4VC56,Q4VC57,Q4VC58,Q59F23,Q59F80,Q5BLN0,Q5BLN1,Q5BLN2,Q5BLN3,Q5BLN4,Q5BLN5,Q5BLN6,Q5BLN7,Q5BLN8,Q5BLN9,Q5BLP0,Q5BLP1,Q5SP12,Q5Y7A9,Q5Y7B2,Q5Y7B5,Q5Y7D0,Q5Y7D3,Q5Y7D6,Q5Y7F1,Q5Y7F6,Q67AI7,Q67AI8,Q67AI9,Q67AJ0,Q67AJ1,Q67AJ2,Q67AJ3,Q67AJ4,Q67AJ5,Q67AJ6,Q67AJ7,Q67AJ8,Q67AJ9,Q67AK0,Q67AK1,Q67AK2,Q67AK3,Q67AK4,Q67AK5,Q67AK6,Q67AK7,Q67AK8,Q67AK9,Q67AL0,Q67AL1,Q67AL2,Q67AL3,Q67AL4,Q67AL5,Q67AL6,Q67AL7,Q67AL8,Q6IVL2,AAA59772,AAD14316,AAB05807,AAB51698,AAB41231,AAC02814,CAA23788,CAA26872,CAA65280,A0AQY9,O19506,O19632,O19707,O19709,O19710,O19711,O19712,O19714,O19715,O19741,O19764,O46871,O78045,O78198,O78219,O78220,O78222,O78224,O98202,AAA59771,AAA36236,AAA59792,AAA59793,AAA59675,AAA59676,AAA59677,AAA36270,AAA59768,AAA52672,AAA59763,AAA36251,AAA63217,AAA63216,AAA64235,AAA64234,AAA59755,AAA59821,O98214,P01920,Q0E4W4,Q0JW41,Q0VJC4,Q12862,Q14QT3,Q1HCM3,Q1HCM4,Q1HCN6,Q1M313,Q29712,Q29755,Q29784,Q29785,Q29883,Q29900,Q29916,Q29917,Q29922,Q29965,Q29967,Q29969,Q29970,Q29996,Q29997,Q29998,Q29999,Q2A662,Q2A663,Q30001,Q30002,Q30003,Q30004,Q30005,Q30007,Q30074,Q30077,Q30078,Q30079,Q30088,Q30090,Q30091,Q30092,Q30093,Q30094,Q30096,Q30097,Q30098,Q30099,O98213,Q30100,Q30102,Q30121,Q30132,AAU87988,AAU87991,AAU87994,AAU88002,AAU88006,AAU88009,AAU88012,AAU88015,AAU88017,AAU88020,AAU88024,AAU88027,AAU88030,AAU88032,AAU88036,AAT77952,AAU33811,AAV97949,AAX22127,AAX22128,AAX22129,AAX22130,AAX22131,AAX22132,AAX22133,AAX22134,AAX22135,AAX22136,AAX22137,AAX22138,AAY33730,AAY33731,AAY33732,AAY33733,AAY33734,CAQ08746,EAW50577,EAW50578,EAW50579,EAW50580,EAW50581,CAQ09754,CAQ09755,CAQ09756,CAQ09757,BAA11413,AAY89656,AAZ20753,ABA06597,ABB05231,ABF50985,ABF56580,ABF56581,AAA98746,AAA75521,AAA59577,AAA36271,AAA59775,AAA59776,AAA59762,BAA06217,AAA03249,AAA36237,AAA36238,AAA36239,AAA36240,AAA36241,AAA36242,AAA36243,AAA36245,AAA36246,AAA36247,AAA59709,AAA59710,AAA59711,AAA59712,AAA59778,AAB25221,AAB60325,AAA77049,AAA93181,AAB02682,AAB02681,AAD00003,AAD00006,AAD00007,AAD00008,AAB19215,AAB91991,CAA71450,CAC19575,CAA84482,BAD92817,BAD92875,AAB86436,AAD17203,AAF28315,AAK91824,BAG58244,BAG58403,BAG58545,BAG59223,BAG65340,BAH14704,AAV71028,AAV71029,AAV71030,AAH12106,AAI28596,AAZ67362,AAA59788,AAC41963,AAC41964,AAC41965,AAC41966,AAC41967,AAC41968,AAC41969,CAQ09239,Q7YP59,Q7YPW2,Q7YQ08,Q860H9,Q8HWM9,Q8MGZ6,Q8MHQ2,Q8SNB9,Q8WLT6,Q95466,Q95HL3,Q95IH2,Q9BCT8,Q9BCT9,Q9BCU0,Q9BCU1,Q9GIK3,Q9MYG8,Q9TNT9,Q9TPA8,Q9TQ76,Q9TQ90,Q9TQE3,Q9TQE4,ABM83224,ABM86423 Hs.696211,Hs.409934 CELIAC1|HLA-DQB|IDDM1 HLA class II histocompatibility antigen, DQ beta 1 chain|MHC DQ beta|MHC class II DQ beta chain|MHC class II HLA-DQ beta glycoprotein|MHC class II antigen DQB1|MHC class II antigen HLA-DQ-beta-1|MHC class2 antigen|OTTHUMP00000178570|lymphocyte antigen|major histocompatibility complex class II beta protein-coding 1354401 HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 1580863 20587610,19180512,14730600,14702039,14574404,12477932,11334674,11118314,10661406,8568858,3858830,3036828,2564844,10729169,8084338,9079699,8376762,7602119,3489470,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,19851445,20237496 3120 CH471081,M24920,M24921,M24922,M24923,M83890,X87344,Z84490,AK098007,BC031995,NM_001198858,NR_003937,AL671681,AL672104,AL713890,AL773543,BX927168,BX296564,BX927160,CR753846,CR759848,CR788227,CR936921 EAX03635,EAX03636,EAX03637,AAA52667,AAA52668,AAA52669,AAA52670,CAA60790,CAD20258,BAG53563,NP_001185787,CAI17706,CAI17707,CAI18438,CAI18439,CAI17620,CAI17621,CAI18491,CAI18493,CAI18494,CAI41828,CAQ08747 Hs.719990 HLA-DQB1|HLA-DXB DV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB))|major histocompatibility complex, class II, DQ beta 1|major histocompatibility complex, class II, DQ beta 2 protein-coding 1344963 HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 1580863 3372263,2571586,2495625,1529427 3121 M35000 AAA35774,Q29783 D6S205|D6S205E|DQB3|DVB|DVbeta|HLA-DVB major histocompatibility complex, class II, DQ beta 3 protein-coding 1344093 HLA-DRA major histocompatibility complex, class II, DR alpha HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq] 1580863 19913121,20546939,20587610,20628086,20711177,18305173,6304715,6812963,8890155,11048639,11827988,15489916,11260509,11239948,11181188,11168931,11118314,11070170,10716924,10661406,10480952,9782128,9759843,9371817,9354468,9310842,8920889,8773319,8649448,8574855,8454872,8316295,8152483,8145819,7912458,7835916,7648393,7629508,7519244,7477400,6955253,6955026,6952234,17652306,19247692,19204726,19188433,19143821,19120278,19117940,19116923,19047245,19046302,18987644,18939942,18932050,18846964,18836448,18371160,18270567,17662350,17660530,16341674,15836703,15688398,15536412,15489334,15467430,15361126,15301866,15105429,14976194,14736971,14574404,12932352,12707403,12580031,12477932,12445311,12373032,12370403,12244309,12230470,12202216,12117677,12074713,12073071,12006557,11927549,11854199,11777970,11751963,11742191,11464148,11361223,11320565,11298540,11294926,6952207,6821129,6811954,6422542,6416803,6403940,6324094,3266023,2212658,1905983,1512535,1448091,8084338,9079699,8376762,7602119,3489470,15784911,10729169,16973583,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305,16454711,16354571,16091223,12970439,15194762,15078178,12836198,11593029,9700202,21037568,21072187,20410501,16242130,18931722,19122664,19287509,19430480,19525953,19648278,19660582,19820697,19834503,19851445,19861958,20041166,20118277,20159113,20202859,20228798,20232575,20237496,20362271,20378664 3122 BC032350,BC071659,BM849755,CR457013,CR590143,CR594558,CR596644,CR613451,CR622870,J00193,J00194,K01171,M35979,M60333,M60334,V00523,V00528,NG_002392,AF481359,AL662796,AL670296,AL935032,BX120007,CH471081,J00201,J00203,J00204,V00524,X00274,Z84814,AI492718,AK297032,AK301134,AK301354,AK310161,AK313123,NM_019111,AK301190,BG548634,CR354545,CR753634,CR759779 AAH32350,AAH71659,CAG33294,AAA36272,AAA36275,AAA59785,AAA36283,AAA59787,AAA59783,CAA23782,CAA23787,O19670,O19716,O19720,P01903,Q29868,Q30118,Q59GE3,Q5SP06,ABM82521,ABM85715,NP_061984,AAO23887,CAI18266,CAI18267,CAI17571,CAI17572,CAI18476,CAI18477,CAM26203,CAM26204,EAX03629,EAX03630,EAX03631,AAA36301,AAA36302,CAA23783,CAA25076,CAB06609,BAG59560,BAG62726,BAG62899,BAG35943,BAH13427 Hs.520048 FLJ51114|HLA-DRA1|MLRW HLA class II histocompatibility antigen, DR alpha chain|MHC cell surface glycoprotein|MHC class II antigen DRA|histocompatibility antigen HLA-DR alpha protein-coding 1349823 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq] 2314697,2314699,2314701,2314703,2306231,2314694,2314698,2314704,2314705,2314706,2306232,2306229,2306230,2314693,2314695,2314702,2306233,2314700,2306228,2314696,4144181,4144844,4144826,4144196,4144816 20003137,20549830,20550778,20559009,20560812,20561992,20569042,20580654,20580995,20584722,20586801,20591987,20592276,20593013,20594918,20595243,20670332,20595679,20600444,20603341,20603497,20606439,20617178,20627832,20629714,20631027,20634196,20637045,20639266,20639878,20666704,20668555,20670354,20671941,20678810,20684489,20685690,20685768,20686866,20691532,20692483,20694011,20711174,20719952,20722010,20723328,20735759,20736246,20739684,20797713,20798335,20800921,20810130,18945361,18941528,18939942,18932050,18930994,18922348,18854880,18846964,18838388,18835879,18832704,18824733,18822201,18821214,18820539,18812394,18801688,18799094,18797890,18794853,18794605,18791284,18789688,18780165,18779568,18778327,18768435,18765817,18764812,18761557,18726686,18722491,18721466,18721277,18721271,18718089,18716994,18713991,18706091,18694972,18689790,18684978,18684745,18683155,18656179,18635594,18623133,18615093,18613417,18599937,18593440,18589099,18588574,18583252,18582515,18580885,18576341,18571007,18569076,18565729,18565258,18565246,18561316,18554163,18544086,18537178,18535809,18523354,18521924,18520346,18520158,18513341,18504544,18501999,18489735,18487476,18482373,18481581,18466541,18466515,18466483,18466466,18465452,19058789,19055605,19052351,19052350,19047245,19046304,19046302,19046300,19041429,19032829,19031816,19030725,19024262,19023492,19022862,19005023,19003916,19002558,19000143,19000142,19000140,19000139,18998014,18996998,18987644,18976440,18976433,18976432,18958335,18955792,18955791,18952831,18381784,18378005,18372357,18371160,18370845,18367833,18356404,18352820,18351579,18347100,18345414,18338763,18334870,18332098,18332066,18331414,18320121,18316396,18312480,18312478,18309376,18307784,18301962,18301070,18300568,18295738,18295677,18292987,18289678,18279373,18277084,18275683,18273034,18272866,18272668,18270855,18267980,18259107,18258695,18257894,18256425,18252895,18248305,18244920,18381799,18241227,18240960,18240242,18240241,18236804,18223493,18222012,18203322,18196245,18186801,18177450,18176993,18167262,18164964,18163478,18162709,18156150,18093280,18088469,18088468,18087043,18086267,18086264,18085998,18085741,18084828,18082572,18077428,18071880,18070336,18070287,18070207,18069933,18065518,18064508,18058064,18057683,18057383,18057318,18053473,18039812,18038917,18036860,18036100,18032542,18028350,18022727,18022570,18007983,18003662,18001300,18001297,18000641,17997607,17992468,17989838,17989341,17987563,17982455,17977208,17972102,17971177,17971052,17971048,17964196,17961971,17961775,17956579,17947711,17941906,17936227,17935228,17928868,17927716,17922429,17911430,17910142,17907045,17901090,17900288,17895416,17893434,17891921,17878210,17876645,17875181,17869653,17845310,17845076,17826339,17825227,17804836,17785916,17785583,17767551,17763436,17763415,17761456,17728335,17726164,17722421,17722299,17715334,17714903,17686102,17681614,17680546,17673491,18463715,18451182,18450852,18449568,18449200,18438843,18433881,18416774,18413431,18412308,18408266,18408250,18401352,18399156,18398946,18397187,18396213,18395773,18395261,18390988,18385790,17513705,17510796,17509453,17505501,17498269,17493347,17493158,17489940,17489060,17488703,17469103,17469097,17463066,17462511,17460569,17458393,17455230,17453717,17445173,17445172,17437273,17436241,17433060,17428358,17412364,17407088,17406941,17406641,17401504,17396103,17392574,17392350,17389015,17389014,17389012,17388766,17387388,17384941,17383044,17378697,17376212,17364902,16390390,16386651,16386650,16386648,16386646,16385499,16366416,16365741,16362659,16361713,16358956,16356649,16352685,16343061,16337001,16321988,16320316,16320082,16314951,16303674,16297186,16292086,16286957,16282347,16279844,16277897,16277843,16277691,16276008,16269080,16267776,16267409,17350686,17349874,17345114,17341507,17341285,17334650,17329717,17328818,17325942,17324966,17318773,17311339,17311253,17310371,17309450,17309132,17306585,17305280,17304884,17301827,17299710,17294607,17288808,17287608,17285557,17285554,17284224,17284220,17266100,17265477,17257320,17257319,17257318,17256150,17252545,17237562,17234427,17227111,17223660,17215337,17212710,17212707,17212706,17207714,17207713,17207378,17198869,17186951,17182961,17180363,17174751,17153701,17144392,17143607,17133612,17130569,17130566,17130528,17126830,17124999,17119950,17116345,17113829,17106689,17106278,17105585,17092866,17086601,17075829,17075818,17074598,17060025,17056584,17055527,17054449,17050030,17047287,17028803,17666451,17665209,17662890,17662350,17662002,17661910,17661909,17661908,17660221,17658488,17653770,17653284,17652849,17652848,17631742,17629023,17622942,17610417,17610416,17604825,17603847,17592398,17589850,17588142,17584771,17584585,17584581,17583734,17673320,17672065,17578052,17578051,17573956,17561243,17559688,17559577,17554341,17554300,17554059,17546694,17543145,17541908,17538887,17537386,17534404,17531857,17516530,16829309,16829307,16826237,16815190,16802776,16799707,16796128,16793843,16792590,16786764,16778420,16774552,16773677,16769963,16767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2314697,2314699,2314701,2314703,2306231,2314694,2314698,2314704,2314705,2314706,2306232,2306229,2306230,2314693,2314695,2314702,2306233,2314700,2306228,2314696,4144181,4144844,4144826,4144196,4144816 3123 NG_002433,NG_002392,NG_002432,AB007634,AB046526,AB049829,AB087875,AB087876,AB106127,AB176445,AB196528,AF016225,AF028011,AF029267,AF029269,AF029270,AF029271,AF029272,AF029273,AF029274,AF029275,AF029277,AF029278,AF029279,AF029289,AF029290,AF029292,AF030439,AF049875,AF092562,AF101127,AF112876,AF121971,AF142444,AF142447,AF142449,AF142450,NM_002124,AF142452,AF142453,AF142454,AF142455,AF142456,AF142457,AF142458,AF142461,AF142462,AF142464,AF142467,AF142468,AF144105,AF169238,AF172070,AF172071,AF190132,AF191104,AF217961,AF225565,AF239244,AF243536,AF278701,AF297459,AF327742,AF327743,AF330103,AF335231,AJ309930,AJ311892,AJ430192,AJ430382,AJ431718,AJ441130,AJ507782,AJ539472,AJ543433,AJ555156,AJ555541,AJ556173,AJ558180,AJ558181,AJ566209,AJ579780,AJ581744,AJ581747,AJ850053,AJ870972,AJ884667,AJ969417,AL137064,AL713966,AM000026,AM109975,AM109976,AM109977,AM109978,AM109979,AM109980,AM109981,AM109982,AM109984,AM109985,AM109986,AM109987,AM109988,AM109992,AM109993,AM109994,AM109996,AM109997,AM109999,AM110000,AM110001,AM233907,AF352291,AF352292,AF352293,AF352296,AF363727,AF363728,AF373015,AF400066,AF406781,AF439712,AF479570,AF491843,AF497643,AJ001252,AJ001253,AJ001254,AJ010982,AJ133492,AJ238154,AJ238410,AJ242985,AJ243327,AJ249626,AJ276711,AJ278491,AJ293861,AJ295845,AJ306419,GQ245755,GQ245756,GQ245757,GQ245758,GU811811,GU811812,GU811813,GU811814,GU811815,GU811816,GU811817,GU811818,GU811819,AM933133,AY028515,AY028517,AY028519,AY034875,AY036907,AY152671,AY158889,AY174180,AY174183,AY179369,AY259125,AY265414,AY271987,AY428811,AY429729,AY504815,AY504962,AY525097,AY660006,AY663395,AY663400,AY663404,AY663405,AY663406,AY663408,AY663409,AY663411,AY663413,AY663414,AY663415,AY714542,AY730638,AY766103,AY776333,AY912075,CH471081,D45046,D49823,D64041,D86504,D89917,DQ060441,DQ112549,DQ179043,AM910430,AY961063,AY961065,AY961066,AY961068,AY961072,AY961073,AY961076,AY961077,AY961078,BC007920,BC008403,BC018832,BC018834,BC018835,BC024269,BC031023,BC033827,BC108922,D86415,DQ002917,DQ090958,DQ140279,L02545,L42143,L76133,M11161,M11867,M14191,AY961062,DQ333353,DQ525631,DQ835614,EF495129,K02776,L06847,L10402,L14481,L22341,L23963,L27216,L27217,L29082,L34025,L79973,M13278,M22050,M27511,M27645,M35003,DQ235685,M14661,M14662,M15069,M15074,M16957,M16958,M16959,M17378,M17381,M17384,M20138,M20430,M20504,M21008,M25265,M25266,M26038,M27635,M28583,M28584,M30179,M33600,U37582,U56640,U65585,U95817,X00699,X00700,X02902,X03069,U09201,M35005,M57599,M60216,M63196,M63202,M63337,M63338,M64794,M81170,M84446,M86694,M94460,M96128,S69987,U02561,U24179,U26691,U33325,U36571,U36836,U45999,U59460,U63802,U88135,X16649,X52451,X64546,X74343,X88854,X99840,Y09665,Y15404,Y17272,Y17273,Z38072,AF010142,AF017440,AF017441,AF291675,AF436097,AJ297583,AJ297585,AJ297586,AJ297587,AJ697892,AJ697893,AK289463,AK291987,AY626551,AY770514,AY935719,AL662842 NP_002115,BAA22609,BAB03347,BAB16681,BAC02938,BAC02939,BAC66086,BAD15071,BAD80735,AAB70217,AAB94613,AAF65477,AAF65479,AAF65480,AAF65481,AAF65482,AAF65483,AAF65484,AAF65485,AAF65486,AAF65487,AAF65488,AAF65498,AAF65499,AAF65501,AAB92519,AAC05276,AAD03597,AAD16437,AAD29581,AAD24059,AAD31288,AAD31291,AAD31293,AAD31296,AAD31297,AAD31298,AAD31299,AAD31300,AAD31301,AAD31302,AAD31305,AAD31306,AAD31308,AAD31311,AAD31312,AAD38374,AAD51314,AAD51969,AAD51970,AAF08286,AAF03162,AAF32310,AAF65542,AAF59946,AAG00413,AAF87751,AAG17449,AAK08492,AAK08493,AAK08504,AAD31294,CAC33572,CAC44767,CAD22866,CAD23046,CAD24479,CAD29646,CAD47818,CAD62436,CAD65908,CAD87537,CAD88257,CAD89003,CAD90053,CAD90054,CAD92860,CAE30289,CAE46451,CAE46444,CAH61416,CAI35917,CAI59633,CAI94542,CAC19360,CAI18081,CAJ00865,CAJ33582,CAJ33583,CAJ33584,CAJ33585,CAJ33586,CAJ33587,CAJ33588,CAJ33589,CAJ33591,CAJ33592,CAJ33593,CAJ33594,CAJ33595,CAJ33599,CAJ33600,CAJ33601,CAJ33603,CAJ33604,CAJ33606,CAJ33607,CAJ33608,CAJ80873,CAC32843,Q13750,Q14FK6,Q14FK7,Q14FK8,Q19A33,Q19K82,Q19K83,Q19K84,Q1EIR2,Q1G0Z7,Q1G0Z8,Q1G100,Q1JRP4,Q202I5,Q29632,Q29648,Q29649,Q29650,Q29685,Q29688,Q29690,Q29692,Q29706,Q29711,Q29713,Q29719,Q29723,Q29725,Q29727,Q29744,Q29769,Q29791,Q29796,Q29798,Q29799,Q29802,Q29804,Q29805,Q29814,Q29816,Q29821,Q29830,Q29834,Q29901,Q29905,Q29918,Q29919,Q29957,Q29974,Q29979,Q2HPT8,Q2LDE4,Q2PBC3,Q2PZR1,Q30110,Q30113,Q30114,Q30119,Q30122,Q30123,Q30124,Q30127,Q30128,Q30129,Q30130,Q30134,Q30156,Q30157,Q30164,Q30165,Q30167,Q31638,Q31640,Q31643,Q3LA85,AAK27708,AAK27709,AAK27710,AAK27713,AAK51524,AAK51525,AAK54252,AAK85431,AAK96249,AAL35224,AAM09473,AAM09543,AAM18713,CAA04626,CAA04627,CAA04628,CAA09450,CAB76922,CAB41972,CAB42824,CAB45249,CAB56638,CAB56284,CAB87811,CAB95662,CAC05373,CAC08181,AAK20873,Q3LA86,Q3LAA3,Q3LAA4,Q3LAA5,Q3LAA6,Q3LAA7,Q3LAA8,Q3LAA9,Q3LAB0,Q3LAB1,Q3LAB2,Q3LAB3,Q3LAB4,Q3LAB5,Q3LAC2,Q3LAC3,Q3LAG4,Q3LRY0,Q3LTJ3,Q3LTJ4,Q3LTJ8,Q3LTK0,Q3T976,Q45FZ4,Q45G73,Q45G74,Q45G75,Q45W57,Q4A1G9,Q4A1S0,Q4F6M6,Q4JH26,Q4PRC4,Q4U4M7,Q4ZJJ2,Q546B9,Q56FN4,Q56FN6,Q56FP7,Q5CC31,Q5DKQ6,Q5DUF5,Q5ID26,Q5K3W3,Q5NDA2,Q5NT90,Q5U8S4,Q5XWD6,Q5Y7C5,Q6DMR0,Q6GYF6,Q6J8I8,Q6LBW7,Q6LBW8,Q6PYB1,Q6QUQ1,Q6RCM2,Q6RCP7,CAP45391,CAP69806,AAK31608,AAK31609,AAK31610,AAK61607,AAK67648,AAN38832,AAO49837,AAO17052,AAO17055,AAO23240,AAP21611,AAP21813,AAP23231,AAR29079,AAR10883,AAR98646,AAR98758,AAS19443,AAT72340,AAU87979,AAU87993,AAU88003,AAU88005,AAU88008,AAU88014,AAU88018,AAU88023,AAU88029,AAU88033,AAU88035,AAW57989,AAU44812,AAW47394,AAV52249,AAY17288,EAX03633,BAA08086,BAA08628,BAA10906,BAA13099,BAA20564,AAY59543,AAZ16488,ABA06601,AAX63450,AAX63451,AAX63453,AAX63454,AAX63456,AAX63460,AAX63461,AAX63464,AAX63465,AAX63466,AAH07920,AAH08403,AAH24269,AAH31023,AAH33827,AAI08923,BAA13086,AAY21682,AAY96423,AAZ76539,AAA59777,AAA67104,AAL40069,AAA59781,AAA36274,ABB52004,ABC59115,ABF74596,ABH03635,ABP01682,AAA59808,AAA75387,AAA51400,AAB59623,AAA93192,AAA67123,AAA59789,AAA99889,AAA93191,AAA74994,AAL40075,AAA59798,AAA59713,AAA59817,AAA72783,AAA59799,AAA59800,AAA59809,AAA59810,AAA36279,AAA36280,AAA36281,AAA59801,AAA59805,AAA36295,AAA59832,AAA59831,AAA59827,AAA59780,AAA57260,AAA57259,AAA59794,AAA81550,AAA59680,AAA59681,AAA59842,AAA59782,AAA36289,AAA17992,AAA79205,AAC02715,AAD43827,AAD00817,CAA25295,CAA25296,CAA26660,CAA26873,A0AQX7,A0AQX8,A0AQX9,A0AQY0,A0AQY2,A0AQZ0,A0AQZ1,A0AQZ2,A0AQZ3,O00430,O19502,O19517,O19547,O19587,O19592,O19594,O19599,O19660,O19664,O19696,O19723,O19731,O19786,O19791,O46873,O62890,O77962,O77970,O77971,O78037,O78048,O78080,O78184,O95729,O98046,P01912,P04229,P20039,P79494,P79548,P79550,P79604,P79605,P79606,Q06653,Q06RK2,Q07122,Q0GB79,Q0Z850,Q13365,AAA35776,AAA36290,AAA36298,AAA52321,AAA52324,AAC41708,AAC41709,AAA36273,AAA91837,AAA59481,AAA59779,AAA03142,AAD14052,AAA53174,AAA91986,AAA67990,AAA75372,AAA79784,AAA79830,AAA87226,AAB06950,AAB08761,AAB63317,CAA34642,CAA36690,CAA45844,CAA52390,CAA61324,CAA68151,CAA70858,CAA75604,CAA76721,CAA76722,CAA86217,AAB81176,AAB70554,AAB70555,AAK91825,AAL30416,CAC08823,CAC08825,CAC08826,CAC08827,CAG27025,CAG27026,BAF82152,BAF84676,AAV34808,AAV28303,AAX33315,AAA35775,Q9GJ59,Q9GJE9,Q9GJG1,Q9MXZ1,Q9MXZ3,Q9MXZ4,Q9MY03,Q9MY04,Q9MY05,Q9MY06,Q9MY16,Q9MY17,Q9MY29,Q9MY46,Q9MY65,Q9MY77,Q9MY83,Q9MYC2,Q9MYD6,Q9MYD9,Q9MYG3,Q9TP92,Q9TP93,Q9TP94,Q9TPB7,Q9TPW2,Q9TPW8,Q9TPX0,Q9TQ23,Q9TQ38,Q9TQ39,Q9TQ40,Q9TQ43,Q9TQ45,Q9TQ46,Q9TQ48,Q9TQ49,Q9TQ50,Q9TQ51,Q9TQ52,Q9TQ53,Q9TQ54,Q9TQ55,Q9TQ57,Q9TQ58,Q9TQ61,Q9TQ63,Q9TQ70,Q9TQ83,Q9UM29,Q9UM34,Q9UQT8,Q9XRW9,Q9Y4H8,Q6T713,Q6T718,Q6T862,Q6WIG6,Q6WIG7,Q702H0,Q70IU8,Q75NJ4,Q7YPW3,Q7YPZ4,Q7YQ27,Q7YQ99,Q7YQA6,Q7YQA7,Q860E1,Q860E4,Q860E6,Q860I2,Q860I3,Q860I8,Q860S9,Q860T0,Q860V5,Q860Y4,Q860Y8,Q861A4,Q861B0,Q861C6,Q861F8,Q861G1,Q861G3,Q861H3,Q861H6,Q8HWN2,Q8HWN3,Q8HWS6,Q8HWS9,Q8MGY2,Q8MGY6,Q8MGZ2,Q8MGZ7,Q8SNC0,Q8SNC2,Q8SND0,Q8SP67,Q8SP68,Q8WLQ7,Q8WLR9,Q8WLS0,Q8WMA1,Q95354,Q95379,Q95381,Q95382,Q95384,Q95HK2,Q95HK6,Q95HK7,Q95HL8,Q95HN2,Q95HN3,Q95IF0,Q95IF1,Q95IG7,Q95IT4,Q99947,Q9BCM2,Q9BCM3,Q9BCN3,Q9BCP4,Q9BCP6,Q9BCP7,Q9BCP8,Q9BCP9,Q9BCS7,Q9BD02,Q9BD24,Q9BD27,Q9BD34,Q9GIL1,Q9GIY6,Q9GIY9,Q9GJ37,ADE73096,ADE73097,ADE73098,ADE73099,ADE73645,ADE73646,ADE73647,ADE73648,ADE73649,ADE73650,ADE73651,ADE73652,ADE73653,ADQ31887 Hs.534322,Hs.696211 DRB1|DRw10|FLJ75017|FLJ76359|HLA-DR1B|HLA-DRB|HLA-DRB1*|SS1 DR-16|DR-8|DR1|DR16|DR5|DR8|DRw11|DRw8|HLA class II antigen beta chain|HLA class II histocompatibility antigen, DR-1 beta chain|HLA-DR-beta 1|MHC class II HLA-DR beta 1 chain|MHC class II HLA-DR-beta cell surface glycoprotein|MHC class II HLA-DRw10-beta|MHC class II antigen HLA-DR13|human leucocyte antigen DRB1|leucocyte antigen DR beta 1 chain|leucocyte antigen DRB1|lymphocyte antigen DRB1|major histocompatibility complex, class II, DR beta 1 protein-coding 1352496 HLA-DRB2 major histocompatibility complex, class II, DR beta 2 (pseudogene) 18466483,12477932,12133402,8436426,6947956,3571980,3129499,3032786,1541486,20095337 3124 NG_002392,AL049740,AL662842,M16274,M16275,M86691,AL929581 HLA-DR2B|MGC120245 pseudo 1343169 HLA-DRB3 major histocompatibility complex, class II, DR beta 3 HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq] 1580863 20606439,20371654,6414998,11144299,10609818,8775462,11048639,11827988,15489916,17652306,19286445,19235017,19233472,19223392,19136661,18846964,18537178,18520346,18486765,18258695,18223493,17927716,17911430,17910142,17763415,17714554,17714418,17583734,17559577,17509091,17182961,17153701,17106278,17052889,17006990,17002906,16929349,16916662,16879749,16815190,16426242,16405603,16320316,16200610,15908298,15902698,15896200,15652424,15620466,15531903,15496209,15496200,15489334,15041167,14677183,14574404,14508706,12956878,12694584,12477932,12392858,12296785,12230470,12209103,12202216,12144632,12144619,12144077,12133402,12008082,11997714,11894954,11872240,11782380,11751963,11380956,11182227,11169267,11169247,11118314,11098940,11082517,11027344,10958362,10902611,10661406,9802612,9389331,9373149,9243765,18569076,9234494,9234492,9223324,9162096,8500529,8462990,8125298,8016840,7477400,6589154,6415003,3476943,3466180,3459965,3372263,3110774,3020126,3012569,2497068,2493052,2471740,1908841,1905983,8084338,9079699,8376762,7602119,3489470,15784911,16973583,10729169,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305,20331476,19487887,19776016,19830726,19851445,19922436,20149160,20307907,20395221,20933106,20972469,18305173,17207965 3125 NG_002392,AF026467,AF028012,AF028589,AF058294,AF081677,AF092089,AF092176,AF132810,AF148518,AF152844,AF152845,AF177216,AF208484,AF208485,AF361865,AF427138,AF427139,AF455114,AF461431,AJ001255,AJ238155,AJ242860,NM_022555,AJ242861,AJ242862,AJ290395,AJ315477,AJ441058,AJ507784,AJ507785,AJ555542,AJ564210,AL662842,AL929581,AY033875,AY036908,AY042679,AY094138,AY271986,AY291205,AY958608,CH471081,DQ011880,DQ064701,DQ179035,DQ179037,DQ250650,DQ309438,DQ311653,DQ343834,DQ518875,M13561,M13562,M35004,U36826,U94590,A06800,X04055,X04058,X04059,X65558,X65559,X65560,X95760,X99771,Y08063,Y10180,Y10553,Y13715,Z84814,AF000448,AF192258,AF192259,AF199236,AK226043,AY138123,BC001023,BC008987,BC106057,CR592036,CR600239,CR609601,CR609994,CR625333,M16941,M17380,M28991,M28992,U66825,U95819,U95820,V00522,CR788283 NP_072049,AAC05599,AAB94614,AAB84139,AAC13718,AAC32202,AAC64135,AAC64137,AAD30528,AAF67837,AAD45285,AAD45286,AAD53911,AAF23165,AAF23166,AAK38297,AAL26538,AAL26539,AAL57866,AAL66370,CAA04629,CAB41973,CAB62391,CAB62392,CAC27417,CAC86562,CAD29670,CAD47820,CAD47821,CAD88258,CAD91915,CAI17549,CAI18691,AAK59387,AAK67649,AAK94514,AAM14399,AAP23230,AAP43643,AAY28717,EAX03632,AAY40255,AAY59415,ABA06593,ABA06595,ABC59072,ABC40506,ABC33924,ABC70992,ABG33842,AAA59796,AAA59797,AAA52326,AAB63531,AAB53324,CAB62390,Q95IF8,Q9TQ22,Q9TQD7,Q9TQP2,Q9UBW6,Q9UIN4,Q9UQT9,CAA00596,O62902,O78187,O78188,O78199,P13761,P79483,Q0PQ40,Q15BP8,Q2F6I0,Q30131,Q30135,Q30137,Q3LTJ7,Q3LTJ9,Q4PNL5,Q4U4M5,Q6LBW5,Q6LBW6,Q6LBW9,Q7JFU8,Q7YPT7,Q860Y7,Q8HWN0,Q8HWN1,Q8MGY5,Q8SNB6,Q95358,Q95HM7,Q95IE9,CAE82045,CAE82072,CAE82039,CAA46528,CAA46529,CAA46530,CAA65066,CAA68104,CAA69301,CAA71253,CAA71585,CAA74043,CAB06607,AAB86437,AAF26358,AAF26359,AAF13065,AAN15205,AAH01023,AAH08987,AAI06058,AAA36282,AAA59804,AAA36291,AAA36285,AAD43828,AAD00819,AAD00820,CAA23781,O19507,O19593,O19726,ADQ31672 Hs.696211 HLA-DR3B|HLA-DR52|HLA-DRB1|MGC117330 DR7|HLA class II histocompatibility antigen, DR beta 3 chain|HLA class II histocompatibility antigen, DRB1-7 beta chain|MHC class II HLA-DR beta 3 chain|MHC class II antigen DR beta 3 chain|MHC class II antigen DRB3|human leucocyte antigen DRB3|major histocompatibility complex, class II, DR beta 3 protein-coding 1345500 HLA-DRB4 major histocompatibility complex, class II, DR beta 4 HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB4 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq] 1580863 20606439,10425186,8775462,19235017,19233472,19223392,19052923,19035513,18846964,18569076,18523312,18520346,18223493,18053473,17910142,17893434,17763415,17491100,17310371,17237562,17182961,17174751,17153701,17106278,17052889,17021767,17002906,16815190,16690413,16634878,16629714,16441501,16405603,15982264,15908298,15902698,15896200,15730527,15721314,15513680,15191532,15188377,15140072,15055474,15046556,14677183,14574404,14558083,14508706,12956878,12859598,12541760,12477932,12392858,12391221,12358860,12296785,12230470,12209103,12202216,12144632,12144077,12121280,12008082,11997714,11972878,11751963,11532019,11118314,11082517,11034566,10717810,10703621,10661406,10551425,9952022,9500545,9373149,9354468,9243754,9234493,9223324,9162096,9098937,9062971,9027964,8344726,8125298,8085262,7792759,7652736,7528725,3875800,3860851,3596674,3476943,3467350,3458223,20371654,3372263,3174462,3110774,3099214,3036826,3020127,3015788,2592019,2511168,2466818,2212675,2023919,1905983,1612646,1428007,1358866,8084338,9079699,8376762,7602119,3489470,15784911,16973583,10729169,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305,11782380,19487610,19811438,19922436,20164547,20193583,20307907,11827988,11048639,18305173 3126 NM_021983,NG_002433,AB049459,AB107960,AB112911,AB207269,AF028010,AF029284,AF029287,AF036944,AF142448,AF144081,AF177215,AF207709,AF214572,AF227518,AF305212,AF324240,AF335233,AF352295,AF450317,AJ131789,AJ223124,AJ242833,AJ243701,AJ252282,AJ289123,AJ292564,AJ293725,AJ297503,AJ401236,AJ812566,AJ870921,AL929581,AM086025,AM109974,AY033428,AY043181,AY174091,AY174092,AY195616,AY195618,AY283604,AY339246,AY394720,AY428805,AY465114,AY663410,AY724685,AY750899,AY772533,AY899825,BX120007,BX296568,BX571807,CR788250,D50865,D64042,D86502,D86503,D89879,D89918,DQ011879,DQ136035,DQ179038,DQ358688,EF536016,K02775,L08621,L14852,L34353,M15838,M20555,M27509,M27510,M27644,M35006,M63195,M63200,M74030,M74031,M81176,M96130,U03291,U03721,U09200,U26659,U36827,U39087,U41490,U41491,U59686,U70545,X65567,X99839,Y09313,AF017439,AF048707,AF361548,AI829825,AK225683,AK225690,AK291499,AK293020,AY961064,AY961067,AY961070,BC005312,BF974249,CR610561,DQ284431,DQ284433,M14190,M15071,M15178,M16732,M16942,M17385,M17388,M30180,M59803,S48645,U17379,AF361549,U35375,U35729,U37433,U47028,U70544,U29342,AADB02027554,AK292151,BX927235,GQ891550 NP_068818,BAB16298,BAC75547,BAD02942,BAD91204,AAB94612,AAF65493,AAF65496,AAC05578,AAD31292,AAD53054,AAD53910,AAG22593,AAF32284,AAF61218,AAG22826,AAN52494,AAK20875,AAK27712,AAL48256,CAB65073,CAA11127,CAC20415,CAB65103,CAB65735,CAC19015,CAC00534,CAC28260,CAC27124,CAB96577,CAH23708,CAI35044,CAJ30431,CAJ33581,AAK55114,AAK81687,AAO20088,AAO20089,AAO43050,AAO43051,AAQ18120,AAQ18913,AAQ96922,AAR07616,AAR28666,AAU88021,AAW59561,AAV38129,AAV38108,AAW82078,CAM26205,CAM25996,CAM25971,CAQ07647,BAA09461,BAA10907,BAA13097,BAA13098,Q6UB42,Q6Y1S2,Q7JFU9,Q7YPZ5,Q7YQ30,Q860C0,Q860S8,Q861F4,Q861G2,Q8HWT8,Q8MGZ9,Q8MH61,Q8NEI3,Q8SNB5,Q8SNC3,Q8WLU0,Q95465,Q95HL4,Q95IE3,Q95IE4,Q95IE6,BAA14037,AAY40254,AAZ67361,ABA06596,ABC84557,ABQ08747,AAA59802,AAA59691,AAC37561,AAA73900,AAA52769,AAA59830,AAA59815,AAA59816,AAA72782,AAA52327,AAA52320,AAA52323,AAA62840,AAA62839,AAA91843,AAA03144,AAA99536,AAA03486,AAA17991,AAD09441,AAC51629,AAB18636,AAA86243,AAA86244,AAB52230,AAC51630,CAA46536,CAA68150,CAA70497,AAB70553,AAC31951,BAA14036,AAM00252,AAM00253,BAF84188,BAF85709,AAX63452,AAX63455,AAX63458,AAH05312,ABC66198,ABC66200,AAA36288,AAA59813,AAA35995,AAA59825,AAA36296,AAA36300,AAA36299,AAA59714,AAA64237,AAB24005,AAC50165,Q9BCN9,Q9BCQ0,Q9BCS5,Q9BD10,Q9BD12,Q9BD26,Q9GIJ6,Q9GIY3,Q9GJ28,Q9GJ49,Q9GJG2,Q9MXZ6,Q9MXZ9,Q9MY14,Q9MYA0,Q9MYA1,Q9MYB9,Q9MYD7,Q9MYE4,Q9NQ54,Q9TPE1,Q9TQ44,Q9TQ47,Q9TQ59,Q9TQD6,Q9TQD9,Q9TQE1,Q9UEX8,Q9UEY1,Q9UEY3,Q9UM28,AAB63410,AAA75373,AAA79144,AAB63411,AAB63412,A0AQY1,A0AQY4,A0AQY5,A0AQY6,A0AQY7,A0AQY8,A0AQZ4,O00664,O19190,O19503,O19504,O19586,O19621,O19661,O19662,O19663,O19665,O19666,O19668,O19678,O19679,O19681,O19719,O19721,O19725,O19727,O19729,O19733,O19734,O19735,O19736,O19737,O19738,O19740,O19742,O19743,O19759,O19762,O19763,O62870,O62880,O77961,O77963,O78044,O78054,O78117,O78216,P13760,P13762,P79491,P79499,P79552,Q05563,Q0PGS7,Q0VUQ9,Q1KLJ9,Q29635,Q29651,Q29668,Q29671,Q29696,Q29717,Q29726,Q29728,Q29732,Q29735,Q29736,Q29745,Q29786,Q29803,Q29813,Q29818,Q29869,Q29888,Q29890,Q29893,Q29895,Q29902,Q29904,Q2A128,Q2L4U2,Q2LIR3,Q2LIR4,Q2LIR5,Q30008,Q30103,Q30104,Q30106,Q30107,Q30143,Q30147,Q30152,Q30162,Q30179,Q31624,Q31635,Q31639,Q31642,Q31646,Q3LAB6,Q3LAB7,Q3LAB8,Q3LAB9,Q3LAC0,Q3LAC1,Q3LTJ6,Q45FY1,Q45KF7,Q4F6M7,Q4U0U6,Q4U4M6,Q50EW5,Q53YS1,Q53ZR8,Q56FN5,Q56FN7,Q56FN8,Q56FP5,Q58HT8,Q59HP9,Q5IFG9,Q5IWM0,Q5U9D1,Q5Y7A7,Q5Y7C2,Q5Y7D1,Q5Y7D7,Q5Y7G6,Q5Y7G9,Q6QJL9,Q6RCP8,Q6S5I0,ACX50637,BAF84840 Hs.534322,Hs.696211,Hs.716081,Hs.723344 DR-13|DR-14|DR13|DR14|DRB4|HLA-DR4B DR-12|DR-4|DR12|DR4|DRB1 transplantation antigen|HLA class II histocompatibility antigen, DR beta 4 chain|HLA class II histocompatibility antigen, DRB1-12 beta chain|HLA class II histocompatibility antigen, DRB1-4 beta chain|MHC HLA DR-beta chain|MHC class I antigen DRB1*12|MHC class I antigen DRB1*4|MHC class II HLA-DR-beta-7|MHC class II antigen DRB1*12|MHC class II antigen DRB1*13|MHC class II antigen DRB1*14|MHC class II antigen DRB1*4|MHC class II antigen DRB4|MHC class II antigen HLA-DR-beta|MHC class II antigen HLA-DRB1|MHC class2 antigen|class II histocompatibility antigen HLA DR alpha, beta1-0307|human leucocyte antigen DRB4|leucocyte antigen DRB1|leukocyte antigen|major histocompatibility complex, class II, DR beta 1|major histocompatibility complex, class II, DR beta 4 protein-coding 1350012 HLA-DRB5 major histocompatibility complex, class II, DR beta 5 HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq] 1580863 20606439,20639878,11048639,11827988,15489916,17652306,19380721,19235017,19223392,19116923,18846964,18832704,18713991,18569076,18520346,17910142,17559577,17182961,17153701,17106278,16916662,16566202,16441501,16426242,16405603,16305688,16140993,15982265,15902698,15896200,15730527,15245378,15191533,15191532,14989721,14752708,14617041,14508706,12956878,12694577,12694574,12652907,12477932,12392858,12358860,12296785,12244309,12230470,12209103,12202216,12144632,12144077,12133402,12121280,12028548,11997714,11972886,11934390,11798795,11782380,11751963,11704801,11555411,11469465,11380955,11260517,11181995,11181188,11169266,11144300,11118314,11082517,11082515,11034591,10703621,10661406,10609818,10551425,9864034,9820607,9777332,9500545,9349614,9226128,9223324,9162096,9027973,8988548,8864175,8655358,8462990,8362413,8168862,8026992,8016840,7974469,7652736,7547576,3571980,3476943,3466180,3456344,3371836,3259543,3137159,3129499,3099214,3020127,3015788,2885840,2884201,2565895,2511168,2471740,2212675,2023919,1975801,1905983,1612646,1428007,8084338,9079699,8376762,7602119,3489470,15784911,16973583,10729169,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305,20394989,18305173,21131588,19122664,19663932,19811438,20193235,20193583,20307907,17207965 3127 NG_002432,AB010269,AB010270,AB106129,AB112913,AB176444,AF011786,AF029281,AF029282,AF029283,AF029285,AF029286,AF029291,AF029301,AF034858,AF047350,AF052574,NM_002125,AF089719,AF093411,AF112877,AF112878,AF122887,AF142442,AF142445,AF142451,AF142465,AF142466,AF144080,AF164346,AF169239,AF186407,AF186408,AF201762,AF234175,AF234181,AF243537,AF247533,AF247534,AF267639,AF288212,AF306862,AF329281,AF335230,AF442519,AF450093,AJ243897,AJ243898,AJ245714,AJ245715,AJ245717,AJ249726,AJ251984,AJ252281,AJ271159,AJ289124,AJ297705,AJ306404,AJ401148,AJ404618,AJ491301,AJ506201,AJ506752,AJ507382,AJ507425,AJ507780,AJ512947,AJ534885,AJ539471,AJ783982,AJ854064,AJ854250,AJ867236,AJ871009,AJ878425,AL713966,AM000036,AM084908,AM159646,AF081676,AM231063,AY048687,AY141137,AY170862,AY172512,AY174184,AY179366,AY179367,AY179368,AY247411,AY257483,AY259126,AY259128,AY267906,AY277387,AY277391,AY277393,AY296120,AY296121,AY305859,AY307897,AY331806,AY379480,AY396024,AY429723,AY429728,AY457037,AY465115,AY502108,AY504812,AY504813,AY545466,AY641577,AY664400,AY664401,AY765349,AY877348,AY884215,AY899913,CH878642,D13412,D14352,D29836,D49468,DQ135944,DQ179034,DQ179042,DQ514604,DQ525634,DQ535034,DQ643390,DQ837166,EF078986,EF419344,EF495154,L21755,L26306,L41992,M15839,M35159,M57600,M63216,M74032,M81171,M81174,M81180,M98436,U08274,U25442,U25638,U26558,U34602,U37583,U41489,U41634,U59685,U66721,U68391,U72064,U72264,U79025,U79026,U79027,U95115,U96926,X64544,X64548,X64549,X65585,X86803,X95656,X97291,X99841,Y07590,Y09342,Y13727,Y17695,Y17819,Z83201,Z99006,AB062112,AF004817,AF490771,AJ297582,AJ580838,AK292140,AK314834,BC009234,M15992,M16086,M16954,M16955,M16956,M17377,M17379,M17382,M17383,M20429,M20503,M27689,M30181,M30182,M32578,M57648,M59798,S79786,U17381,U31770,U66826,U95818,X99895 NP_002116,BAA36549,BAA36550,BAC66088,BAD02944,BAD15070,AAB65751,AAF65490,AAF65491,AAF65492,AAF65494,AAF65495,AAF65500,AAB88297,AAC24013,AAC05828,AAC05839,Q9MY00,Q9MY01,Q9MY02,Q9MY07,Q9MY08,Q9MY09,Q9MY10,Q9MY11,Q9MY12,Q9MY15,Q9MY22,Q9MY91,Q9MYH1,Q9NPL1,Q9TNV2,Q9TNV3,Q9TP67,Q9TP96,Q9TP97,Q9TPE2,Q9TQ41,Q9TQ42,Q9TQ56,Q9TQ60,Q9TQ62,Q9TQ64,Q9TQ77,Q9TQ78,Q9TQD8,Q9TQE0,Q9UEX9,Q9UIM7,Q9UM35,Q9UM36,Q9UM38,Q9Y454,AAC32201,AAC61746,AAD10735,AAD29582,AAD29583,AAD31766,AAD31286,AAD31289,AAD31295,AAD31309,AAD31310,AAD53053,AAD47814,AAD51315,AAF06175,AAF06176,AAF35306,AAG50193,AAF64297,AAG00414,AAF99607,AAF99608,AAF78946,AAG01005,AAG42258,AAK21117,AAK20872,AAN75784,AAL47161,CAB51474,CAB51475,CAB53343,CAB53344,CAB53346,CAB56285,CAC19085,CAB65734,CAB71144,CAC19016,CAC10354,CAC29238,CAB94833,CAC06089,CAD36477,CAD44639,CAD44945,CAD45639,CAD45638,CAD47817,CAD55599,CAD59236,CAD62435,CAH04455,CAH69440,CAI05916,CAI29455,CAI38569,CAI47597,CAI18079,CAJ01187,CAJ29895,CAJ76979,AAL12226,AAN28924,AAO16556,AAN86038,AAO17056,AAO23237,AAO23238,AAO23239,AAO91660,AAP13509,AAP21612,AAP21614,AAP32697,AAP34691,AAP34695,AAP34697,AAP55804,AAP55805,AAP70485,AAP74221,AAP93590,AAQ85128,AAQ96776,AAR10879,AAR10882,AAR20446,AAR28667,AAR89455,AAR98643,AAR98644,AAS48869,AAT64904,AAT76040,AAT76041,AAV35213,AAW66688,AAW80834,AAW82335,EAW50813,EAW50814,EAW50815,EAW50816,BAA02678,BAA03281,BAA06216,BAA08440,AAZ53370,ABA06592,ABA06600,ABF60567,ABF74599,ABF93212,ABG25965,ABH05946,ABK56696,ABN58745,ABP38039,AAA58657,AAA67471,CAJ43899,AAA58651,AAA59791,AAA36292,AAA52325,AAA63193,AAA91838,AAA91841,AAA91847,AAA59693,AAB87709,AAB50934,AAB02172,AAA67957,AAA75451,AAA79206,AAA86242,AAA84388,AAB52229,AAB52232,AAB08109,AAB17994,AAB17276,AAA65914,AAB52236,AAB52237,AAB58397,AAB71649,CAA45842,CAA45846,CAA45847,CAA46544,CAA60498,CAA64958,CAA65956,CAA68152,CAA68865,CAA70524,CAA74055,CAA76817,CAA76871,CAB05668,CAB11742,BAB84521,AAB61608,AAO85467,CAC08822,CAE45568,BAF84829,BAG37353,AAH09234,AAA59678,AAA59679,AAA36276,AAA36277,AAA36278,AAA59818,AAA59803,AAA59819,AAA36294,AAA59822,AAA59826,AAA59829,AAA59840,AAA59715,AAA59795,AAA63218,AAA64236,AAD14315,AAC50167,AAB63983,AAD43829,AAD00818,CAA68170,AAB52235,A0AQY3,O02867,O02951,O02969,O19518,O19622,O19667,O19728,O19730,O19804,O46698,O62887,O77965,O77978,O78108,O78161,O78167,O78212,O98047,P79486,P79546,P79547,P79613,Q000J6,Q05525,Q06654,Q06663,Q06664,Q07493,Q0PH71,Q0R326,Q15442,Q19K81,Q29646,Q29647,Q29686,Q29687,Q29691,Q29715,Q29737,Q29754,Q29789,Q29891,Q29894,Q29903,Q29906,Q29955,Q29971,Q29972,Q29973,Q2YHL2,Q30009,Q30109,Q30111,Q30136,Q30138,Q30140,Q30141,Q30148,Q30151,Q30154,Q30158,Q30178,Q31637,Q31641,Q31644,Q31645,Q3LTJ1,Q3LTJ2,Q5EEQ8,Q5EGD8,Q5FY46,Q5GMP5,Q5ND94,Q5QQ11,Q5TJ21,Q5W1E2,Q5XKU0,Q5Y7B6,Q5Y7E0,Q6BDC5,Q6BDC8,Q6DV47,Q6QE68,Q6RCP9,Q6RCQ0,Q6S5H9,Q6T714,Q6T717,Q6TKG7,Q70I25,Q75NJ5,Q768U3,Q7JFQ0,Q7JGS8,Q7YP63,Q7YPZ8,Q7YPZ9,Q7YQ31,Q7YQ32,Q7YQ35,Q7YQA2,Q7YQA4,Q7YQA8,Q860B8,Q860E3,Q860I1,Q860S1,Q860S2,Q860S7,Q860Z2,Q861A5,Q861B8,Q861G4,Q861G5,Q861H2,Q861H9,Q8HWG3,Q8HWG4,Q8HWG5,Q8HWH1,Q8HWL8,Q8HWN4,Q8MGY3,Q8MHQ0,Q8WLU1,Q95385,Q95386,Q95388,Q95462,Q95HK3,Q95HK4,Q95HK5,Q95HK8,Q95HK9,Q95HN0,Q95IE2,Q99938,Q99948,Q9BCQ2,Q9BCS6,Q9BCS8,Q9BCT6,Q9BD07,Q9BD35,Q9BD47,Q9GIL4,Q9GIL7,Q9GIX0,Q9GIX7,Q9GJF7,Q9GJM1,Q9MXZ2,Q9MXZ7,Q9MXZ8,ADQ31602 Hs.534322 FLJ76359|HLA-DRB DR beta-5|DR-9|DR2-beta-2|DR9|HLA class II histocompatibility antigen, DR beta 5 chain|HLA class II histocompatibility antigen, DR-5 beta chain|HLA class II histocompatibility antigen, DRB1-9 beta chain|MHC HLA-DR-beta cell surface glycoprotein|MHC HLA-DR-beta chain|MHC class II HLA beta chain|MHC class II antigen DRB1*9|MHC class II antigen DRB5|dw2|human leucocyte antigen DRB5|leukocyte antigen class II|major histocompatibility complex, class II, DR beta 5 protein-coding 1354106 HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) 17910142,12133402,12089714,10436177,9601939,1937579,1529427 3128 NR_001298,NG_002432,AL713966,AF005487,L76565,L76566,U33547 AAC26400,O77966 Hs.723344 pseudo 1602730 HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudogene) 3856276,1529427 3129 NG_002433,AL137064,K02772,K02773,K02774,CR753309,CR753835,CR753841,CR933540,BX296568,BX649210 pseudo 1347117 HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) 3036826,1529427 3130 NG_002433,M20556,Z84477,BX571807,AADB02009981,ABBA01028473,BX927235 pseudo 1345710 HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) 1580863 12133402,7759314,1529427,19820697,20228798 3132 NG_002392,NG_002432,AL670296,AL845554,S78510,FN985099 AAD14284,Q30217,CBN72527 D6S206|D6S206E|HLA-DR1BL|HLA-DRB1L pseudo 1353823 HLA-E major histocompatibility complex, class I, E HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq] 1580863 20546939,20587610,20673868,3260916,11513152,19318419,19239424,19180512,19140831,18987160,18832701,18692948,18448674,18445777,18332182,18292941,18270229,18083576,17961774,17768067,11137220,10898498,10809759,10557312,10203023,10064069,9894856,9886400,9840288,9751712,9660937,9605335,9545232,9486650,9427624,9373149,9218527,9154460,9103421,9103419,8493575,8125298,7751618,7621073,3131426,2825194,2438694,2249951,1977695,1624808,1530866,1401923,12427289,9263011,7539755,10799863,1316930,9373217,7913356,8084338,11932387,10546855,9120272,8877415,8671651,2789433,15316337,10707087,12526811,11289809,11578695,11432755,9586638,9052838,15078178,11270642,17767552,17554300,17445187,17257316,17164714,17157219,16920947,16702430,16573557,16570139,16362895,16341674,16224817,16034073,16003246,15952123,15829309,15751767,15681828,15631661,15620456,15496202,15489334,15226423,14595379,12929994,12874228,12618909,12590976,12477932,12461082,12461076,12411439,12232815,11920559,11774212,11751963,11714810,12836198,12414957,11463741,10982373,10366557,9582271,16272310,16091223,15638726,12734410,8612235,10684310,14965316,16344560,20113960,21057081,20877010,14734748,16169070,17953356,18759005,19198610,19253840,19430480,19571808,19571811,19696636,19780673,19851445,19860682,19860683,19912639,19915572,19935378,20062062,20125193,20167379,20237496,20452482,9815261 3133 AY645741,BA000025,BX936369,CH471081,CR382280,CR762481,CR936916,L79943,M16714,M21533,M32506,M32507,M32508,X64880,AB209870,AJ293263,AJ293264,AK098434,AK225048,AK292391,AK296822,AK298695,AK300906,AK301125,AK314411,AK316327,AY216681,AY221103,BC002578,BC004297,BC040479,BM791769,BX538084,AY645740,CD366016,CR610198,CR619908,CR624610,CR626013,L78455,L78934,M20022,M31183,X56841,X64879,AB014080,AB088094,AB103600,AB202091,AF523274,AF523275,AF523276,AF523277,AF523278,AF523279,AF523280,AF523281,AF523282,AF523283,AJ002533,AJ002534,AJ715787,AL662873,AY645727,AY645731,AY645733,AY645736,AY645737,AY645738,NM_005516,AL662822,AL844213,AY645724,AY645725,AY645726,AY645728,AY645729,AY645730,AY645732,AY645734,AY645735,AY645739,CA439575,DA832616 Q29896,Q29939,Q2L6I5,Q30168,Q30171,Q59EE1,Q6DU44,Q6DU50,Q6KBZ5,Q7Z367,Q9MW44,Q9TNU7,Q9TNU8,ABM82817,ABM86003,AAT73223,AAT73224,BAB63328,EAX03290,EAX03291,EAX03292,CAQ10464,CAQ10328,AAF25962,AAA36305,AAA59835,AAA63223,AAA63224,AAA63225,CAA46099,BAD93107,CAC07212,CAC07213,BAF85080,BAG59393,BAG60853,BAG62542,BAG62719,BAH14698,AAO37688,AAO34408,AAH02578,AAH04297,AAH40479,CAD98008,AAA52655,AAA57146,CAA40172,CAA46098,O19682,O19683,O19744,P13747,NP_005507,BAC54925,BAF31260,BAE78609,AAM74969,AAM74970,AAM74971,AAM74972,AAM74973,AAM74974,AAM74975,AAM74976,AAM74977,AAM74978,CAA05526,CAA05527,CAG29392,CAI18436,AAT73210,AAT73214,AAT73216,AAT73219,AAT73220,AAT73221,AAT73207,AAT73208,AAT73209,AAT73211,AAT73212,AAT73213,AAT73215,AAT73217,AAT73218,AAT73222,CAI17548,CAI18596 Hs.650174 DKFZp686P19218|EA1.2|EA2.1|HLA-6.2|MHC|QA1 HLA class I histocompatibility antigen, E alpha chain|HLA class I histocompatibility antigen, alpha chain E|MHC HLA-E alpha-1|MHC HLA-E alpha-2.1|MHC class I antigen E|lymphocyte antigen protein-coding 1345133 HLA-F major histocompatibility complex, class I, F This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq] 1580863 20593013,1688605,18941505,17971048,17157219,9586638,9052838,15078178,10684310,14965316,12836198,12414957,11463741,10982373,10366557,9582271,16272310,16091223,15638726,12734410,8612235,16709803,16702430,16570139,16341674,16185322,14705989,14702039,14607927,14595379,14574404,12874228,12477932,11751963,11169396,10727083,10605026,9887353,9840288,9751712,9545232,9373149,9247579,9089112,8518796,8493575,8125298,7621073,1707659,10799863,1316930,8084338,9373217,7913356,12427289,9263011,7539755,11932387,10546855,9120272,8877415,8671651,2789433,10707087,12526811,11289809,11578695,18658158,19622345,19664746,19851445,20237496,20483783,20865824 3134 NM_018950,NM_001098478,NG_012009,AB011820,AB088082,AB103588,AB201549,AF055066,AF523284,AF523285,AF523286,AF523287,AF523288,NM_001098479,AY645743,AY645744,AY645745,AY645746,AY645747,AY645748,AY645749,AY645750,AY645751,AY645752,AY645753,AY645754,AY645755,AY645756,AY645757,AY645758,AY645759,BA000025,BX005428,BX927250,CH471081,AY645742,AF523290,AF523289,AF523291,AF523292,AF523293,AF523294,AF523295,AF523296,AF523297,AL645939,AL669813,AL844851,AY328516,CR753818,D78595,X17093,AK096962,AK125274,AK225185,AK298704,AK300090,AK301488,AK302420,AK303670,AK309156,AY216682,AY221102,AY253269,AY253270,AY253271,BC009260,BC062991,BM798587,CA436948,CB528356,CD365590,CD369507,CT002787,DQ367723,CR759790,GQ891552 NP_001091949,NP_061823,NP_001091948,BAA32747,BAC54915,BAF31252,BAE78596,AAC24827,AAM74979,AAM74980,AAM74981,AAM74982,AAM74983,AAT73225,AAT73226,AAT73227,AAT73228,AAT73229,AAT73230,AAT73231,AAT73232,AAT73233,AAT73234,AAT73235,AAT73236,AAT73237,AAT73238,AAT73239,AAT73240,AAT73241,AAT73242,BAB63337,CAI18731,CAI18732,CAQ10721,CAQ10722,EAX03223,EAX03224,EAX03225,EAX03226,AAM74985,AAM74984,AAM74986,AAM74987,AAM74988,AAM74989,AAM74990,AAM74991,AAM74992,CAI18086,CAI18087,CAI18088,CAI17626,CAI17627,CAI17628,CAI18575,CAI18576,CAI18577,AAP94210,CAQ08349,CAQ08350,CAA34947,BAG53400,BAC86108,BAG60861,BAG61893,BAH13496,BAG63725,BAG64668,AAO37689,AAO34407,AAO86773,AAO86774,AAO86775,EAX03227,AAH09260,AAH62991,ABD38924,O78094,P30511,Q5JQI8,Q5SPT7,Q6DU20,Q6DU28,Q6ZUW0,Q7YP62,Q861E9,Q861F0,ACX50639 Hs.519972 CDA12|HLA-5.4|HLA-CDA12|HLAF HLA F antigen|HLA class I histocompatibility antigen, alpha chain F|HLA class I molecule|MHC class I antigen|MHC class I antigen F|MHC class Ib antigen|OTTHUMP00000109209|leukocyte antigen F protein-coding 1347423 HLA-G major histocompatibility complex, class I, G HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq] 1580863 19913121,20448110,20566461,20587610,20588159,20593013,20600443,20610644,20628086,20636826,20646443,20673868,17971055,9539768,19624485,19407850,19378785,19369464,19356145,19341387,19336370,19318395,19317745,19304799,19254259,19247692,19223288,19192345,19141398,19136885,19127811,19098486,19098364,19088262,19038339,18976687,18952696,18937912,18926911,18854100,18830248,18823661,18797896,18782112,18721275,18721274,18700878,18608865,18574769,18538388,18528424,18509163,18499249,18498645,18494931,18480096,18442718,18423887,18380776,18365402,18353802,18334671,18331529,18322247,18314122,18295671,18295670,18292821,18288133,18266268,18257896,18257895,18249584,18243178,18241213,18208868,18059484,18051955,18024326,17982631,17981049,17971051,17971048,17961331,17953947,17951263,20196818,20052552,17932417,12454284,12443029,12440768,12392506,12390865,12390864,12232815,12207326,12183445,12115588,12039526,11975984,11861287,11834945,11807769,11766889,11751963,11719594,11261931,11169254,11137220,11137212,11034559,10843658,10816129,10809759,10727083,10626737,10479058,10479054,10371972,10360962,10330285,10190906,10190900,10082427,10082426,9933109,9855710,9840288,9777333,9751712,9684993,9665340,9637505,9545232,9531263,9405670,9373856,9228302,9221758,9218527,9144223,9129971,9103419,9089111,9023816,8662085,8493575,8376185,8183892,8102125,8020553,7836069,7751618,7621073,7589701,7584149,3480534,2336406,2326636,2295808,2249951,2016528,1908512,1890021,1744000,1624808,1570318,8084338,9373217,7913356,12427289,9263011,7539755,11932387,10546855,9120272,8877415,8671651,2789433,10799863,1316930,10707087,12526811,11289809,11578695,9586638,9052838,15078178,10684310,14965316,12836198,12414957,11463741,10982373,10366557,9582271,16272310,16091223,15638726,12734410,8612235,17897304,17881247,17873550,17854427,17847008,17846022,17845209,17825579,17768067,17767556,17716911,17707652,17702965,17689098,17683947,17681474,17678721,17675239,17673327,17667815,17616704,17559583,17509578,17493150,17490670,17462509,17446213,17445192,17400057,17399800,17371944,17350091,17303922,17257316,17207707,17176444,17169192,17157219,17121749,17118165,17076671,17072500,17067446,17059603,17026466,16933468,16916651,16906016,16867913,16734140,16702430,16698426,16684846,16644675,16616377,16570139,16549178,16501035,16493088,16490253,16459714,16455647,16441481,16426245,16424159,16366734,16362895,16243800,16236759,16210588,15950065,15900488,15837058,15780179,15713211,15670976,15652415,15578261,15556689,15548266,15546345,15514928,15466928,15380940,15373761,15331623,15284117,15219378,15191524,15133645,15090794,15001239,14974449,14711057,14702039,14700594,14697234,14672336,14662880,14639610,14638437,14634138,14628085,14602240,14602238,14602237,14602235,14602233,14602232,14602229,14602228,14602227,14595379,14592815,14500461,12959223,12900514,12878353,12874228,12874224,12874014,12853576,12842408,12721954,12616484,12582157,12552087,12477932,12477705,20487636,15924672,17953356,19193353,19253840,19298722,19401389,19410660,19494525,19531101,19570712,19584149,19619059,19638290,19651177,19651178,19651180,19654030,19656137,19660509,19664669,19665041,19700612,19724893,19728333,19748989,19758196,19762282,19775370,19783164,19798077,19811467,19821846,19841038,19845828,19851445,19860681,19884219,19890057,19913587,19915057,19951440,20017810,20030786,20054107,20070604,20085794,20122941,20167379,20177352,20205591,20228379,20356537,20356990,20452482,20477884,20482523,20492598,20518829,20823837,20969909,20977358,20097242,20113960,20473865,20702625,21057081 3135 AY645773,AB088083,AB201550,AF020714,AF055066,AF132004,AF132006,AF132008,AF132010,AF132012,AF312697,AF523298,AF523300,AF523301,AF523302,AF523303,AF523304,AF523305,AF523306,AF523307,AF523308,AF523309,AF523310,AF523311,AL022723,AL645929,AL671561,AY645760,AY645761,AY645762,AY645763,AY645764,AY645765,AY645766,AY645767,AY645768,AY645769,AY645770,AY645771,AY645772,NM_002127,BX001005,BX247949,BX927141,CH471081,CR759769,CR788234,CT009517,D67005,D67008,D67011,D78000,J03027,L07784,L20777,L78072,L78073,U65234,U65236,U65238,U65242,U65246,U76217,U97035,U97036,U97037,U97038,U97039,X60983,AF071017,AF071018,AF071019,AF071020,AF071021,AF071022,AF196177,AF196178,AF226990,AY645774,AY645775,AY645776,AY661646,AY661647,AY661648,AY661649,AY661650,AY661651,AY661652,AY667429,AY667430,AY667431,AY667432,AY667433,AY672592,AY672593,AY672594,AY672595,AY672596,AY672597,AY672598,AY675175,AY675176,AY675177,AY675178,AY675179,AY675180,AY675181,AY675182,BA000025,AK093478,AK302054,AL551999,AY359818,BC021708,CR606159,CR608458,CR613246,CR623340,DC397107,M32800,M90683,M90684,M90685,M90686,U58024,U58025,U58026,U58027,U58028,U58029,U58094,U88244,X17273,AF436089 NP_002118,BAC54916,BAE78597,AAC51863,AAC24826,AAF24137,AAF24138,AAF24139,AAF24140,AAF24141,AAK38203,AAM74993,AAM74994,AAM74995,AAM74996,AAM74997,AAM74998,AAM74999,AAM75000,AAM75001,AAM75002,AAM75003,AAM75004,AAM75005,CAI18029,CAI18030,CAI18031,CAI17562,CAI17563,CAI17564,AAT73243,AAT73244,AAT73245,AAT73246,AAT73247,AAT73248,AAT73249,AAT73250,AAT73251,AAT73252,AAT73253,AAT73254,AAT73255,CAI18589,CAI18590,CAI18591,CAQ09696,CAQ09697,CAQ09698,EAX03231,EAX03232,EAX03233,EAX03234,EAX03235,EAX03236,CAQ09666,CAQ09667,CAQ09668,CAQ07527,CAQ07528,CAQ07529,CAQ10051,CAQ10052,CAQ10053,CAQ10054,BAA11031,BAA11032,BAA11033,BAA11185,AAA98745,AAA17890,AAB59351,AAL40074,AAF25961,AAC51099,AAC52033,AAC51100,AAC51101,AAC50997,AAC03714,AAC51855,AAC51856,AAC51857,AAC51858,AAC51859,CAA43298,AAC25569,AAC25570,AAC25571,AAC25572,AAC25573,AAC25574,AAF37570,AAT73257,AAT73258,AAT73259,AAT76792,AAT76793,AAT76794,AAT76795,AAT76796,AAT76797,AAT76798,AAT74562,AAT74563,AAT74564,AAT74565,AAT74566,AAT76964,AAT76965,AAT76966,AAT76967,AAT76968,AAT76969,AAT76970,AAT81378,AAT81379,AAT81380,AAT81381,AAT81382,AAT81383,AAT81384,AAT81385,BAB63336,AAT73256,AAL30408,BAG63444,AAQ83724,AAH21708,AAA59846,AAA52673,AAA59836,AAA58653,AAA58654,AAC04369,AAC04370,AAC04371,AAC04372,AAC04373,AAC04374,AAC04375,AAD45397,CAA35174,O02923,O02924,O02925,O02926,O02927,O02928,O02929,O19588,O19658,O19659,O19684,O19745,O19766,O19767,O19768,O19805,O19806,O19807,O19808,O19809,O78131,O78132,O78133,O78134,O78135,O78136,P17693,Q29897,Q30170,Q30182,Q31611,Q68YR8,Q68YR9,Q68YS0,Q68YS1,Q68YS2,Q68YS3,Q68YS4,Q6B844,Q6B845,Q6B846,Q6B847,Q6B848,Q6B849,Q6B850,Q6B851,Q6B9Y0,Q6B9Y1,Q6B9Y2,Q6B9Y3,Q6B9Y4,Q6B9Y5,Q6B9Y6,Q6DL85,Q6DL86,Q6DL87,Q6DL88,Q6DL89,Q6DU08,Q6DU14,Q6UV35,Q7JFN0,Q8MGQ7,Q8MH47,Q8MH48,Q8WLP2,Q8WLS1,Q95347,Q95356,Q95370,Q95391,Q95HM6,Q9BCT7,Q9MW45,Q9MYA2,Q9TP10,Q9TP11,Q9TP12,Q9TP13,Q9TP14,Q9UM45,ABM87808,ABW03643,CAB46612 Hs.512152 MHC-G HLA G antigen|HLA class I histocompatibility antigen, alpha chain G|HLA class I molecule|HLA-G histocompatibility antigen, class I, G|MHC class I antigen|MHC class I antigen G|OTTHUMP00000029220|b2 microglobulin|hla-g histocompatibility antigen, class i, g protein-coding 1349235 HLA-H major histocompatibility complex, class I, H (pseudogene) 1580863 6461010,15359910,15350465,14702039,9866194,2329283,2294403,1517564,20237496 3136 NR_001434,AB023057,AL645929,AL671561,AL845454,M31944,M32104,M32105,M32106,M32107,AK090500,AK299998,AK308374,BX284699,BX927141,CR388220,CT009496,CT009517 BAG52173,BAG61817,P01893 Hs.181244 HLAHP pseudo 1342604 HLA-J major histocompatibility complex, class I, J (pseudogene) 1580863 20593013,16344560,12477932,1602142,2497062 3137 NR_024240,AB023056,AL669914,AL671277,M80468,M80469,M80470,BC020891,BC062324,BC089454,DA965044,AL645935,AL845454,BX005091,BX088647,BX120004,BX927229,CR388205,CR759763,CR759960 AAA66955,Q30175 Hs.720762 CDA12|D6S203|HLA-59|HLA-CDA12|MGC105145|MGC71446 pseudo 1350973 HLA-K major histocompatibility complex, class I, K (pseudogene) 1517564,19851445 3138 BX005091,CR382333,CR388220,CR759913,AB023056,AL645935,AL671277,AL845454,BA000025,M96335,NG_015982 HLA-70|HLA70|HLAK pseudo 1354336 HLA-L major histocompatibility complex, class I, L (pseudogene) 1517564,11181995,12477932,16344560,19851445 3139 AL662782,AL662832,AL844220,M96338,AK127349,BC139904,BC141846,BX248419,BX927189,CH471081,CR388382,DA108297,NR_027822 AAI39905,AAI41847,BAC86939,EAX03278,EAX03279,Q6ZSK9 Hs.656020 FLJ45422|HLA-92|HLA92|HLAL|MGC164773|MGC167006 pseudo 1347571 HLA-N major histocompatibility complex, class I, N (pseudogene) 10452889,1517563 267014 NG_009940,M96329,AL662795,AL662831,AL773535,BX294158,BX927214,CR759281,CR759928 HLA-30 pseudo 1342820 HLA-P major histocompatibility complex, class I, P (pseudogene) 10557312,1517563 352963 NG_002731,AL671561,AL844851,M96333,BX927141,CR759769,CR788234,CR925767,AL645939,BX005428 C6orf101|HLA-90|dJ377H14.3 pseudo 1349267 HLA-S major histocompatibility complex, class I, S (pseudogene) 10452889,1517563 267015 NG_009941,M96339,AL669854,AL671883,AL845443,BX119958,CR318637 HLA-17 pseudo 1347312 HLA-T major histocompatibility complex, class I, T (pseudogene) 16829309,16331567,16292086,10557312,1517563 352964 AB023057,AL645929,AL645935,M96340,AL845454,BX284699,BX927141,CR388220,CT009496,CT009517,NG_015985 HLA-16 pseudo 1351895 HLA-U major histocompatibility complex, class I, U (pseudogene) 10557312,1517563 352965 AL845454,BX005091,CR382333,CR388220,NG_015992,AB023056,AL671277,M96330 HLA-21 pseudo 1349746 HLA-V major histocompatibility complex, class I, V (pseudogene) 10557312,1517563,1517564 352962 NG_002729,AL671561,AL844851,M96332,AL645939,BX005428,BX927182,CR759769,CR788234,CR925767 HLA-75|dJ377H14.4 pseudo 1343069 HLA-W major histocompatibility complex, class I, W (pseudogene) 10557312,1517563,20205591 352966 AB023056,AL671277,M96334,AL645935,AL845454,BX005091,CR382333,CR388220,CR759762,CR759913,NG_015995 HLA-80 pseudo 1344404 HLA-X major histocompatibility complex, class I, X (pseudogene) 9799336,8462994 267016 NG_009943,D88576,AL645933,AL662866,BX005439 pseudo 2292052 HLA-Y major histocompatibility complex, class I, Y (pseudogene) 15219387,10551419 100127173 AY344232,AY436316,Y18651 HLA-DEL|HLA-GOR pseudo 1349791 HLA-Z major histocompatibility complex, class I, Z (pseudogene) 8568858 267017 NG_009944,X87344,AL669918,AL671681,AL935042,BX088556,BX927138,CR752645,CR759798,CR936913 HLA-Z1 pseudo 1320489 HLCS holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) Holocarboxylase synthetase (EC 6.3.4.10) covalently links biotin to propionyl-CoA carboxylase (PCCA; MIM 232000), pyruvate carboxylase (PC; MIM 608786), alpha-methylcrotonyl-CoA carboxylase (MCCC1; MIM 609010), and acetyl-CoA carboxylase (ACACA; MIM 200350).[supplied by OMIM] 1580863 20592104,7842009,16780588,19157941,19048367,18452652,18429047,17904341,17417720,15489334,12477932,12124727,11735028,10830953,10190325,9630604,9503011,9396568,9037601,8817339,8541348,8053691,7753853,6133032,20095979,14613969,18029348,19695181,19740736,19806568,19914215,20026029,20085763,20153287 3141 AB063285,AP000697,AP000698,AP000699,AP000700,AP000701,AP000702,AP000703,AP000704,AP001726,AP001727,CH471079,AJ001864,AK307940,AK314189,NM_000411,BC060787,BI094308,BQ775124,CB049233,D23672,D87328,H17102,X80160,NG_016193 NP_000402,BAB68550,BAA89434,BAA95510,BAA95511,EAX09731,EAX09732,CAA05056,BAG36868,AAH60787,BAA04902,BAA13332,P50747 Hs.371350 HCS biotin apo-protein ligase|biotin--protein ligase|holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) protein-coding 1347027 HLF hepatic leukemia factor This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 20519628,7556072,1516826,1386162,8639829,18239067,17183364,16344560,16215946,16206189,15489334,15070701,12700034,12477932,10216071,10202154,10073576,9742120,9704006,9110174,8889549,8619474,8608207,8164688,8065331,20201926 3131 NM_002126,AC007638,CH471109,AA021027,AF035305,AK074289,AK290043,AK295726,AK315079,BC036093,CR541672,DA104709,DA637609,M95585,X68985 NP_002117,EAW94544,BAF82732,BAG58567,BAG37547,AAH36093,CAG46473,AAA52675,CAA48777,Q16534,Q6FHS9 Hs.196952 MGC33822 hepatic leukemia factor protein-coding 1319146 HLTF helicase-like transcription factor This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq] 1580863 19690564,18825407,7876228,18719106,18584949,18316726,18034322,17094449,17081983,15635413,15489334,15383276,12901794,12766908,12477932,11904375,11058586,10391891,9126292,8672239,8342330,7558014,11810028,17643375,18029348,19614770,19615732,19723507,19948885,20388495 6596 NM_003071,NM_139048,AC021059,AJ418064,CH471052,AB209052,AI971472,AK291231,BC005260,BC014326,BC015498,BC030976,BC044659,CR606295,L34673,S64671 NP_003062,NP_620636,CAD10805,EAW78889,EAW78890,EAW78891,EAW78892,EAW78893,BAD92289,BAF83920,AAH05260,AAH15498,AAH30976,AAH44659,AAA67436,AAB27691,Q05BZ6,Q05DF7,Q14527,Q59GQ7,ABZ92233,Q05DQ5 Hs.3068 HIP116|HIP116A|HLTF1|RNF80|SMARCA3|SNF2L3|ZBU1 DNA-binding protein/plasminogen activator inhibitor 1 regulator|DNA-binding protein/plasminogen activator inhibitor-1 regulator|OTTHUMP00000215741|RING finger protein 80|SNF2-like 3|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3|helicase-like transcription factor|sucrose nonfermenting protein 2-like 3|sucrose nonfermenting-like 3|swi/snf related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 protein-coding 1323685 HLX H2.0-like homeobox 1580863 9073066,8094082,18029348,19362357,19295429,19038437,18402755,17532041,17110450,16902145,16436665,16344560,14702039,12477932,9665637,8095486,7806220,7680402,1712647,1676597,1672660,1375114,1349016,1283323,20554918,19459883,20008130 3142 NM_021958,AF217621,AL445423,CH471100,S56767,S56768,S56769,U14325,U14326,U14327,U14328,U14329,AB208812,AK056326,AK127923,AK313298,BC007294,BC033808,CR591992,DA951303,M60721 NP_068777,AAF65541,CAH72120,CAH72121,EAW93288,EAW93289,AAD13883,AAD13884,AAD13885,AAC51346,BAD92049,BAG54598,BAG36105,AAH07294,AAH33808,Q14774,Q15989,Q5VVT2,ABM84231,ABM87760 Hs.74870 HB24|HLX1 H2.0-like homeo box 1|H2.0-like homeo box-1|H2.0-like homeobox 1|H2.0-like homeobox protein|h2.0-like homeo box 1 (drosophila)|homeobox protein HB24|homeobox protein HLX1 protein-coding 1319013 HM13 histocompatibility (minor) 13 The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 14667819,16834339,16738546,16730383,16303743,15489334,15385547,14988012,14704149,14702039,12972007,12477932,12419218,12145199,12139484,12077416,11780052,14741365 81502 NM_178581,NM_030789,NM_178582,AL110115,AL121751,CH471077,NM_178580,CQ783582,CS255962,AF172086,AF483215,AF515663,AJ345029,AJ420895,AK074686,AK075283,AK314410,AY169310,AY169311,AY169312,BC008938,BC008959,BC062595,BI192962,CR591999,CR601811,CR603351,CR610478,CR621277,DQ168450,HI968237 NP_848695,NP_848696,NP_110416,NP_848697,CAI20173,CAI20174,CAI20175,CAI19152,CAI19153,CAI19154,EAW76435,EAW76436,EAW76437,EAW76438,CAF86750,CAJ75919,AAQ13609,AAM22076,AAN77099,CAC87790,CAD13132,BAC11138,BAC11519,BAG37032,AAO12535,AAO12536,AAO12537,AAH08938,AAH08959,AAH62595,ABA56163,Q8TCT9,ABM87205,CBY88428 Hs.373741 H13|IMP1|IMPAS|IMPAS-1|MSTP086|PSENL3|PSL3|SPP|dJ324O17.1 IMP-1|OTTHUMP00000030530|hIMP1|intramembrane protease 1|minor histocompatibility antigen 13|minor histocompatibility antigen H13|presenilin-like protein 3|signal peptide peptidase beta protein-coding 1603011 HMBOX1 homeobox containing 1 16825764,15489334,14702039,12477932,18983639,19728927,19757162,20379614,20182437 79618 NM_001135726,AC040975,AC091558,AC108449,CH471080,AK025269,AK290683,AK295320,AK310959,NM_024567,AL832296,AY522342,BC009259,BC069242,CR605519,DQ153248,DQ269478 NP_078843,NP_001129198,EAW63496,EAW63497,EAW63498,EAW63499,EAW63500,EAW63501,EAW63502,BAB15099,BAF83372,BAG58297,AAS76643,AAH09259,AAH69242,AAZ81565,ABB82947,Q6NT76,ABZ92410 Hs.591836 FLJ21616|HNF1LA|PBHNF OTTHUMP00000163064|homeobox-containing protein 1|homeobox-containing protein PBHNF protein-coding 733095 HMBS hydroxymethylbilane synthase This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 2301682,2301684,2301681,2301683,1358673,1580863,1578396,4144803,4144806,4144542,4144808 19913121,20628086,18004775,18029348,19292878,19207107,19138865,19021769,18936296,18627369,18554962,18406650,18405488,18070416,17459418,2025226,1981047,1961762,1914516,1714233,1496994,1427766,1301948,17207965,17298217,17298216,16935474,16817012,16390615,16211556,15669678,15643298,15489334,15003823,14995910,14970743,14669009,12773194,12555854,12477932,12406973,12372055,11940707,11857754,11831862,11399210,11202057,11157504,11071386,11030413,11013452,10782018,10657149,10602775,10502788,10494093,10453740,9860299,9654202,9463797,9225970,9199558,8825929,8401516,8270256,8270254,8268934,8262523,8262514,8103755,8081367,7962538,7916736,7866402,7821789,7757070,7592566,6930671,3816774,3422427,2915972,2875434,2789372,2609111,2243128,2227955,20580577,16712791,20536026,12917623,2864531,8340112 2301682,2301684,2301681,2301683,1358673,4144803,4144806,4144542,4144808 3145 NM_000190,NM_001024382,NG_008093,AB162702,AP003391,AP003392,CH471065,D10608,M18799,M18800,M95623,S60381,X68018,AK000628,AK131072,AK290275,AK309544,AK310343,AW139390,BC000520,BC008149,BC019323,BF210364,BQ020524,BX647328,CB128006,CR590157,CR595054,CR596302,CR598526,CR603362,CR606553,CR606864,CR611265,CR611708,CR612613,CR613896,CR614466,CR620096,CR621119,D28419,X04217,X04808 NP_000181,NP_001019553,BAD36778,EAW67447,EAW67448,EAW67449,EAW67450,BAA01463,AAA60028,AAA60029,AAA60030,AAC60602,CAA48156,BAF82964,AAH00520,AAH08149,AAH19323,BAA05785,CAA27801,CAA28499,P08397,Q0G847,Q68Y91,Q6LER4,ADQ32697 Hs.82609 PBG-D|PBGD|PORC|UPS porphobilinogen deaminase|porphyria, acute; Chester type|pre-uroporphyrinogen synthase|uroporphyrinogen I synthase|uroporphyrinogen I synthetase protein-coding 1605323 HMCN1 hemicentin 1 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq] 19229767,17591627,17216616,17157600,17057786,16885922,16710414,15467524,15370542,14702039,14570714,12388743,11222143,9715689,19190085,19948975,20299368 83872 NM_031935,NG_011841,AL118512,AL121996,AL133515,AL133553,AL135796,AL135797,AL391824,BX928748,CH471067,CS161060,AF156100,AJ306906,AK027344,AK056336,AK056557,AK096452,AL833232 NP_114141,CAI17864,CAI17844,CAI17853,CAI17858,CAI17860,CAI17854,CAI17871,CAI17865,CAH74051,EAW91198,EAW91199,EAW91200,CAJ30880,AAK68690,CAC37630,BAB55049,BAB71154,BAB71216,CAH10605,Q5TCP6,Q69YJ3,Q96K89,Q96RW7 Hs.58877 ARMD1|FBLN6|FIBL-6|FIBL6 fibulin 6|fibulin-6|hemicentin-1 protein-coding 1626387 HMCN2 hemicentin 2 12477932,20379614,14702039,12388743 256158 XM_001726942,XM_002347078,XM_001715154,AL354898,AL360004,AK074396,AK093583,AK128020,AK128680,AL834139,BC146865,XM_002346203 Q6ZRS5,Q8NDA2,XP_001726994,XP_002347119,XP_001715206,CAI16954,BAB85069,BAC04201,BAC87234,CAD38854,AAI46866,XP_002346244 Hs.32194,Hs.512559 DKFZp434P0216|FLJ23816|FLJ46139|FLJ46844 hemicentin 2|hemicentin-2|hemicentin-2-like protein-coding 1353988 HMG14P high-mobility group (nonhistone chromosomal) protein 14 pseudogene 12727900,10830953 54048 NG_000921,AP000255 HMG14P|HMGN1L2 pseudo 1349990 HMG17P2 high-mobility group (nonhistone chromosomal) protein 17 pseudogene 2 3441004 3153 NG_001142,X06444 60H|HMG17P2|HMGN2L12 pseudo 1344998 HMG1L high-mobility group (nonhistone chromosomal) protein 1-like 3147 1351924 HMG1P high-mobility group (nonhistone chromosomal) protein 1 pseudogene 3085 1350467 HMG20A high-mobility group 20A 1580863 16189514,10773667,18029348,15489334,15231748,14702039,12477932,9373149,8125298,20531441,20530487 10363 NM_018200,AC090984,CH471136,AB073664,AF146222,AK001601,AK025664,AK096546,AK223100,AK297449,AL355733,AL355737,AL355739,AL832087,BC021959,BT006716,CR610830,AK316281 NP_060670,EAW99201,EAW99202,EAW99203,AAF66706,BAA91782,BAD96820,BAG59873,CAB90816,AAH21959,AAP35362,Q9NP66,BAH14652 Hs.724643 FLJ10739|HMGX1|HMGXB1 HMG box domain containing 1|HMG box-containing protein 20A|HMG domain-containing protein 1|HMG domain-containing protein HMGX1|high mobility group protein 20A protein-coding 1347672 HMG20B high-mobility group 20B 17961134,15489334,15057824,14702039,12809554,12493763,12477932,12083780,12083779,12032298,11997092,11207365,10773667,10486208,12234937,16169070,15325272,16189514,20530487 10362 AC005786,NM_006339,AC116968,CH471139,AF072165,AF072836,AF146223,AF288679,AF318366,AF331191,AK090733,AK129638,AK289500,AK310601,AK314201,AL355691,AL355702,AL355703,AL355709,BC002552,BI561304,CR456754,CR623751,BC003505,BC004408,BC021585,BC134413 AAC62837,NP_006330,EAW69306,EAW69307,EAW69308,AAF76253,AAC26860,AAF66707,AAG01174,AAL55873,AAG60060,BAC03510,BAF82189,CAB90809,AAH02552,CAG33035,Q71RA9,Q8WYT5,Q9P0W2,ABZ92463,AAH03505,AAH04408,AAH21585,AAI34414 Hs.406534 BRAF25|BRAF35|FLJ26127|HMGX2|HMGXB2|PP7706|SMARCE1r|SOXL|pp8857 BRCA2-associated factor 35|HMG box domain containing 2|HMG box-containing protein 20B|HMG domain-containing protein 2|HMG domain-containing protein HMGX2|OTTHUMP00000197362|OTTHUMP00000197364|SMARCE1-related protein|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1-related|Sox-like transcriptional factor|structural DNA-binding protein BRAF35 protein-coding 1345409 HMGA1 high mobility group AT-hook 1 This gene encodes a non-histone protein involved in many cellular processes, including regulation of inducible gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of A+T-rich regions in double-stranded DNA. It has little secondary structure in solution but assumes distinct conformations when bound to substrates such as DNA or other proteins. The encoded protein is frequently acetylated and is found in the nucleus. At least seven transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 19913121,20546612,20628086,20397748,20335021,20530667,20347905,18817785,19759913,20935630,10428834,16157300,12091904,16291214,10871404,15609325,12228227,15479846,19266077,19223528,19074878,19060921,18670638,18473350,18391951,18316571,18279675,18202751,17935122,17903177,17877762,17723105,17654722,17616660,17550233,17434141,17290307,17178855,17081983,17045586,16344560,16256199,16189514,16166307,16033759,15901130,15893306,15835918,15631895,15591590,15569996,15489334,15378028,15350136,15302935,15247513,15213251,14960313,14729942,14702039,14611647,13680222,12761578,12700639,12665574,12653562,12477932,12097287,12002338,11978964,11834421,11593421,11498590,11406267,11279116,11076660,11069991,11034995,10891489,10713105,10428837,10428836,10428835,10357819,10074149,9751634,9545312,9388234,9253416,9188609,9038339,8414980,7862168,7791781,3619901,2920035,2806554,2701943,2505228,1939057,1692833,16403635,16075307,15875659,15924147,16293633,17960875,19250063,19343178,19396169,19609535,19687300,19729480,19739099,19820691,19848064,19893584,19903768,19956671,20004941,20189936,20194618,20201926,20379614,21089648,21156240 3159 NM_145899,NM_002131,NM_145903,NM_145901,NM_145902,NM_145905,AL354740,CH471081,L17131,AF176039,AK096863,AK130027,AK301434,AK308245,BC004924,BC008832,BC008963,BC015662,BC015789,BC063434,BC067083,BC071863,BC071864,BT006774,CR591405,CR595910,CR596333,CR597874,CR598411,CR600575,CR601453,CR605660,CR612153,CR613337,CR613994,CR614979,CR620670,CR626711,DA049639,DA574958,DC338100,DC374225,M23614,M23615,M23616,M23617,M23618,M23619,X14957,X14958,HI519558 NP_665906,NP_002122,NP_665910,NP_665908,NP_665909,NP_665912,CAI14991,CAI14992,EAX03762,EAX03763,EAX03764,EAX03765,EAX03766,EAX03767,EAX03768,EAX03769,EAX03770,EAX03771,EAX03772,EAX03773,EAX03774,AAB00145,AAD53889,BAC85280,BAG62962,AAH04924,AAH08832,AAH15789,AAH63434,AAH67083,AAH71863,AAH71864,AAP35420,AAA88072,AAA88073,AAA88074,AAA88075,AAA88076,AAA35998,CAA33080,CAA33081,P17096,Q5T6U8,Q6IPL9,Q6ZP45,ABM84023,ABW03568,CBX54360 Hs.518805,Hs.703764 HMG-R|HMGA1A|HMGIY|MGC12816|MGC4242|MGC4854 HMG-I(Y)|OTTHUMP00000016223|OTTHUMP00000016224|high mobility group AT-hook protein 1|high mobility group protein A1|high mobility group protein HMG-I/HMG-Y|high mobility group protein R|high-mobility group (nonhistone chromosomal) protein isoforms I and Y|nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y protein-coding 1343766 HMGA1L1 high mobility group AT-hook 1-like 1 11672774,11063803,12727900 203477 NG_002324,AC107293,AF116914 HMGA1L1|HMGIYL1 pseudo 1603546 HMGA1L2 high mobility group AT-hook 1-like 2 17098703,11672774,12727900 171559 NG_001569,AC105757,AF236857 HMGA1L2|HMGIYL2 pseudo 1351848 HMGA1L3 high mobility group AT-hook 1-like 3 11672774,12727900 144712 NG_002323,AC005907,AC144548,BK000551 HMGA1L3|HMGIYL3 pseudo 1345354 HMGA1L5 high mobility group AT-hook 1-like 5 12727900 387063 NG_008009,AC010997 HMGA1L5 pseudo 1344216 HMGA1L6 high mobility group AT-hook 1-like 6 12727900 387064,100130029 AL356287,NG_027901 HMGA1L6 pseudo 1352361 HMGA1L7 high mobility group AT-hook 1-like 7 387065 1348013 HMGA2 high mobility group AT-hook 2 This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1601568,1601569,1580863,1601567,1601592 18832382,18828159,18505920,18452175,18413822,18403645,18391952,18391951,18391950,18375116,18214854,18202751,18193045,17957144,17943974,17935122,17917968,17917958,17854665,17767157,17654722,17624332,17477356,17437991,17426251,17332316,17322030,17222355,17078040,17045619,17005673,16831886,16375854,16341674,16322327,16276091,16271958,16222997,16077985,16061642,15882911,15618963,15618962,15146197,15026339,14647145,14645522,14614053,14603445,13679031,12874787,12799440,12781451,12778070,12693954,12649198,12569368,12505264,12477932,7606786,16293633,19376282,19266077,19262251,19223528,19215040,19179606,19139030,19136928,19132395,19003801,18983959,18980243,18843278,20804914,20804922,20228781,20889853,12419585,11921278,11894114,11839563,11406267,11390395,11066083,11034995,10636877,10586108,10398424,9892177,9772904,9003504,8824803,8198613,7670494,7529547,7501444,1762909,19913121,20461755,20544840,20610542,20628086,20946527,20597139,20551826,18784955,19298872,19317492,19343178,19431195,19454362,19508721,19521953,19549901,19584346,19609535,19837271,19898227,19930247,20004941,20007691,20058197,20195514,20368557,20397748,20581827,16766265,21150874 1601568,1601569,1601567,1601592 8091 Z31595,AB209853,NM_003484,A52568,A80000,AC090673,AC107308,AF326972,CH471054,L41044,L46353,U28750,U28754,AF533651,AF533652,AF533653,AF533654,AI290477,AK311399,AK311443,AK311447,AY601861,AY601862,AY601863,AY601864,AY601865,AY601866,AY601867,BC018139,BM782659,CA422738,CN334368,U28749,U29112,U29113,X92518,NM_003483,NG_016296 CAA63295,CAA83472,P52926,Q1M182,Q1M183,Q1M185,Q1M186,Q1M187,Q1M188,Q59EF8,Q86U91,Q8IZX8,BAD93090,AAI60115,NP_003474,NP_003475,CAA03408,CAB59170,AAN64002,EAW97152,AAA96484,AAA68614,AAO48741,AAO48742,AAU43851,AAU43852,AAU43853,AAU43854,AAU43855,AAU43856,AAU43857,AAA68613 Hs.505924 BABL|HMGI-C|HMGIC|LIPO|STQTL9 High-mobility group protein HMGI-C|high mobility group AT-hook protein 2|high mobility group protein HMGI-C|high-mobility group (nonhistone chromosomal) protein isoform I-C protein-coding 1605729 HMGB1 high-mobility group box 1 2306716 18680137,15766246,15210788,11246022,11748232,16130169,9600082,8006019,12925773,18029348,19476625,19445369,19417608,19223331,19201506,19197071,19158276,19151394,19148477,19139725,19044016,19009026,19005067,18996119,18984601,18974890,18952078,18949384,18846108,18825712,18825489,18822317,18768881,18720262,18715162,18692049,18682735,15743787,15733057,15666359,15496585,15489334,15488733,15201494,15162419,15146429,15130941,15014079,14999020,14739282,14702039,14534709,14532127,14517071,12799451,12785009,12759333,12727838,12665595,12620891,12604365,12565837,12534345,12488489,12477932,12456506,12384917,12231511,12149489,12110890,12062430,11748221,11470162,11299752,11294645,11279268,11099378,10962007,10652254,10617144,10490593,9880542,9812979,9722660,9671457,9628821,9507007,9472015,9150946,9036861,8890171,8661151,8366113,3697355,2922262,1909331,18655026,11106654,18073062,20200191,20350435,20799933,19933377,20579387,20622903,20659154,20430742,20302902,18670905,18644848,18631454,18599803,18577209,18569640,18441281,18431589,18425372,18354232,18346273,18317568,18294942,18288272,18277058,18250463,18239618,18076993,17991152,17975708,17958791,17936030,17918013,17895302,17678959,17617154,17610420,17597834,17504981,17502242,17475879,17346334,17218606,17203009,17142771,17060403,17035340,16997939,16997859,16968820,16966386,16962095,16951227,16916647,16855214,16807371,16802368,16751357,16697213,16570276,16282196,16267105,16169070,16040616,15994314,15944249,15924431,15915542,15802534,15793304,15877951,18239742,18707018,18759291,18788635,19150066,19214652,19247800,19387923,19398086,19446504,19451748,19515846,19530996,19533845,19545550,19564572,19571604,19572890,19616266,19639200,19666121,19679874,19726280,19751520,19786934,19800306,19811284,19819342,19837864,19841752,19876719,19887013,19930620,19948257,19962765,20007974,20044610,20110525,20123074,20123075,20123076,2013279,20185963,20193282,20207250,20231695,20419158,9166431,20414834,18799030,20510002,20959471,10531386,20936104,12935895,20723409,20812762,20826760,21116278 2306716 3146 BT020159,BX647267,CR456863,CR591935,CR592109,CR592914,CR600442,CR601960,CR607900,CR608517,CR610682,CR613151,CR625251,CR625918,CR749614,D63874,X12597,BT006940,NM_002128,AF255609,AF281043,AL353648,CH471075,EF157968,EU012027,U51677,AA430980,AB208998,AK057120,AK122825,AK291494,AK304506,AK310975,AL110194,AY377859,BC003378,BC030981,BC066889,BC067732,BC141844 AAP35586,AAV38961,CAG33144,CAH18408,BAA09924,CAA31110,P09429,Q59GW1,Q5T7C0,Q5T7C4,Q5T7C6,Q9NYD7,AAI40014,AAI40019,NP_002119,AAF71287,AAK64599,CAI15600,CAI15601,CAI15603,CAI15606,EAX08457,EAX08458,EAX08459,EAX08460,EAX08461,EAX08462,ABM47301,ABS29271,AAB08987,BAD92235,BAG51867,BAG53745,BAF84183,BAH14201,AAQ91389,AAH03378,AAH30981,AAH66889,AAH67732,AAI41845 Hs.593339,Hs.596078,Hs.725141 DKFZp686A04236|HMG1|HMG3|SBP-1 Amphoterin|HMG-1|OTTHUMP00000018197|OTTHUMP00000018198|OTTHUMP00000190859|Sulfoglucuronyl carbohydrate binding protein|high mobility group box 1|high mobility group protein 1|high mobility group protein B1|high-mobility group (nonhistone chromosomal) protein 1 protein-coding 1345595 HMGB1L1 high-mobility group box 1-like 1 This gene may represent an evolving retropseudogene of the high-mobility group box 1 gene, which has multiple pseudogenes. This gene has an intact open reading frame as well as strong transcriptional support. The length of encoded protein is conserved, compared to the high-mobility group box 1 protein. The exact function of this gene is unknown. [provided by RefSeq] 12477932,9925949,20200978,20339536 10357 AF076674,AL160176,NG_016433 HMG1L1|HMG1L7|HMGB1L1|dJ579F20.1 pseudo 1344648 HMGB1L10 high-mobility group box 1-like 10 1580863 10591208,18029348 100130561 NG_008794,Z95115 Q9UGV6 HMG1L10|HMGB1L10|bK445C9.3 pseudo 4110492 HMGB1L11 high-mobility group box 1-like 11 12727900 100419996 AL031274,NG_027013 HMGB1L11 pseudo 3207498 HMGB1L12 high-mobility group box 1-like 12 12727900 100129723 AL035067,NG_022690 HMGB1L12 pseudo 1352474 HMGB1L14 high-mobility group box 1-like 14 12727900 319130 NG_002508,AL132989 HMGB1L14|HMGB1P pseudo 1349227 HMGB1L3 high-mobility group box 1-like 3 10766566,9925949 10356 NG_000883,AC010149,AF076675 HMG1L3|HMGB1L3 pseudo 1346593 HMGB1L4 high-mobility group box 1-like 4 9847074,9925949 10355 NG_023630,NG_004767,AC007277,AF076676 AAF19244,Q75MM1 HMG1L4|HMG1L4P|HMGB1L4 pseudo 1345412 HMGB1L5 high-mobility group box 1-like 5 10591208,9925949,8439568 10354 AF076677,L08048,NG_000897,AC121253 AAA64970 HMG-1|HMG1L5|HMGB1L15|HMGB1L5|HMGB1P2 pseudo 1353312 HMGB1L6 high-mobility group box 1-like 6 9925949,12727900 645292 AC068181,AF076678,CR616734,CR621439,NG_006664 Hs.596078 HMG1L6|HMGB1L6 pseudo 1605444 HMGB1L8 high-mobility group box 1-like 8 12727900 692147 NG_005579,AC013565,AF165167 HMG1L8|HMGB1L8 pseudo 1605140 HMGB1L9 high-mobility group box 1-like 9 12727900 654503 NG_005481,AC097483,AF165168 HMG1L9|HMGB1L9 pseudo 4144938 HMGB1P13 high-mobility group box 1 pseudogene 13 12727900 100129706 AL137783,NG_022327 HMGB1L13 pseudo 4145220 HMGB1P16 high-mobility group box 1 pseudogene 16 12727900 646577 AL606467,NG_022656 pseudo 4145166 HMGB1P18 high-mobility group box 1 pseudogene 18 646526 AC095036,NG_022786 pseudo 4145240 HMGB1P20 high-mobility group box 1 pseudogene 20 12727900 100128227 AL512378 pseudo 4145241 HMGB1P25 high-mobility group box 1 pseudogene 25 12727900 644651 AC112723,NG_021494 pseudo 4145180 HMGB1P26 high-mobility group box 1 pseudogene 26 12727900 645201 AL354983,NG_022758 pseudo 4890233 HMGB1P27 high-mobility group box 1 pseudogene 27 12727900 100527948 AC079777,NG_027985 pseudo 4145157 HMGB1P28 high-mobility group box 1 pseudogene 28 100133310 ABBA01014276,ABBA01014277,AC108210 pseudo 4890115 HMGB1P34 high-mobility group box 1 pseudogene 34 12727900 100420100 AL132640,NG_027382 pseudo 4889676 HMGB1P36 high-mobility group box 1 pseudogene 36 12727900 100419968 AC096971,NG_025706 pseudo 4889048 HMGB1P37 high-mobility group box 1 pseudogene 37 12727900 100132863 AL359644,NG_021636 pseudo 4888930 HMGB1P39 high-mobility group box 1 pseudogene 39 12727900 100419972 AL589649,NG_025834 pseudo 4889052 HMGB1P40 high-mobility group box 1 pseudogene 40 11181995,12727900 100506595 AC108005,CH471064,NG_027946,XM_001132385,XM_928515,AC090707,XM_003118638,XM_003120689 EAW68331,EAW68332,XP_001132385,XP_933608,XP_003118686,XP_003120737 high mobility group protein B1-like|high-mobility group box 1 pseudogene 40 pseudo 4888928 HMGB1P43 high-mobility group box 1 pseudogene 43 12727900 100420041 AC087468,NG_025349 pseudo 4889251 HMGB1P44 high-mobility group box 1 pseudogene 44 12727900 100130279 AC114801,NG_022063 pseudo 4889265 HMGB1P45 high-mobility group box 1 pseudogene 45 12727900 100129919 AL596275,NG_022721 pseudo 4889253 HMGB1P46 high-mobility group box 1 pseudogene 46 12727900 100419978 AP000428,NG_026068 pseudo 4889369 HMGB1P48 high-mobility group box 1 pseudogene 48 12727900 100128639 AADB02000499,ABBA01050865,AL355480 pseudo 4889250 HMGB1P49 high-mobility group box 1 pseudogene 49 12727900 100420013 AC009509,NG_024073 pseudo 4888929 HMGB1P7 high-mobility group box 1 pseudogene 7 12727900 100420044 AL390715,NG_025482 pseudo 1605728 HMGB2 high-mobility group box 2 This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq] 1754403,1475204,8339930,11909973,9636147,1551873,9600082,15504738,7797075,12925773,18029348,19369647,19223331,19139395,17964600,17406091,16344560,16341674,15833996,15489334,14739282,14729942,12555809,12524539,12477932,12062430,11748232,11099378,10490593,9722660,9671457,8889548,8824816,7720710,3697355,18239742,19236006,19811285,19965638,20036050,8226934,978439 3148 NM_001130688,NM_001130689,AC097534,CH471056,M83665,AA576809,AK311864,AU129699,BC000903,BC001063,BC100019,BM727941,BM781845,BT019782,BT019783,CR590265,CR592990,CR599927,CR600021,CR603881,CR605441,CR606584,CR622092,CR622334,CR623074,CR624665,CR624893,X62534,Z17240,NM_002129 NP_002120,NP_001124160,NP_001124161,EAX04758,EAX04759,AAA58659,BAG34805,AAH01063,AAI00020,AAV38585,AAV38586,CAA44395,CAA78938,P26583,Q5U071,ABM83214,ABM86413 Hs.434953 HMG2 HMG-2|OTTHUMP00000219011|high mobility group protein 2|high mobility group protein B2|high-mobility group (nonhistone chromosomal) protein 2 protein-coding 4770550 HMGB2P1 high-mobility group box 2 pseudogene 1 729119 AC011544,NG_021754 pseudo 1350742 HMGB3 high-mobility group box 3 HMGB3 belongs to the high mobility group (HMG) protein superfamily. Like HMG1 (MIM 163905) and HMG2 (MIM 163906), HMGB3 contains DNA-binding HMG box domains and is classified into the HMG box subfamily. Members of the HMG box subfamily are thought to play a fundamental role in DNA replication, nucleosome assembly and transcription (Wilke et al., 1997 [PubMed 9370291]; Nemeth et al., 2006 [PubMed 16945912]).[supplied by OMIM] 1580863 9598312,16945912,16381901,15772651,15489336,15489334,12477932,11076863,9370291,2350545,1572546 3149 NM_005342,AF003626,CH471169,BC007608,BC012370,BC037210,BC070482,BX537505,CR596113,DN996967,L05085,Y10043 NP_005333,EAW99397,EAW99398,AAH70482,CAD97768,AAC15850,CAA71143,O15347,Q16466,Q7Z684,CAL38124,CAL38659,ABZ92037 Hs.19114 HMG2A|HMG4|MGC90319 HMG-2a|HMG-4|OTTHUMP00000025866|OTTHUMP00000025867|OTTHUMP00000025868|high mobility group protein 2a|high mobility group protein 4|high mobility group protein B3|high-mobility group (nonhistone chromosomal) protein 4|non-histone chromosomal protein protein-coding 1354014 HMGB3L1 high-mobility group box 3-like 1 12477932,12727900 128872 NR_002165,AL049709,BC103849,BC103850,BC103851 Q3SYE8 Hs.558624 HMG4L|HMGB3L1|MGC118987|MGC118988|MGC118989|dJ18C9.3 pseudo 1348853 HMGB3L2 high-mobility group box 3-like 2 12727900 128879 NG_000979,AL035420 HMG4L2|HMGB3L2|dJ550H1.1 pseudo 4889294 HMGB3P10 high-mobility group box 3 pseudogene 10 12727900 100129320 AADB02000698,ABBA01045449,AC105270 pseudo 4889278 HMGB3P11 high-mobility group box 3 pseudogene 11 12727900 644442 AC068057,NG_021574 pseudo 4889284 HMGB3P13 high-mobility group box 3 pseudogene 13 12727900 100289158 AC010207,NG_022274 pseudo 4889277 HMGB3P15 high-mobility group box 3 pseudogene 15 12727900 644429 AC096746,NG_022021 pseudo 4889256 HMGB3P17 high-mobility group box 3 pseudogene 17 12727900 100419948 AC106792,NG_024626 pseudo 4889266 HMGB3P18 high-mobility group box 3 pseudogene 18 12727900,19396169 644502 NG_022325,Z93931 pseudo 4889224 HMGB3P19 high-mobility group box 3 pseudogene 19 12727900 729635 AL136094,NG_022333 pseudo 4889282 HMGB3P20 high-mobility group box 3 pseudogene 20 12727900 442661 AC073472,CH236948,NG_022531 pseudo 4889225 HMGB3P22 high-mobility group box 3 pseudogene 22 12727900 729595 AADB02009873,ABBA01010032,AC113426,XM_001130734,XM_001714426,XM_001717176 XP_001130734,XP_001714478,XP_001717228 high mobility group protein B3-like|high-mobility group box 3 pseudogene 22 protein-coding 4889362 HMGB3P23 high-mobility group box 3 pseudogene 23 12727900 100288563 AADB02012499,ABBA01065091,AL353728 pseudo 4889379 HMGB3P24 high-mobility group box 3 pseudogene 24 12727900 646993 AADB02012506,ABBA01050430,AL161792,XM_001717725,XM_929965,XM_939877 XP_001717777,XP_935058,XP_944970 Hs.591080 high mobility group protein B3-like|high-mobility group box 3 pseudogene 24 protein-coding 4889247 HMGB3P26 high-mobility group box 3 pseudogene 26 12727900 100130405 AL133367,NG_022849 pseudo 4889366 HMGB3P27 high-mobility group box 3 pseudogene 27 12727900,16625196 441795 AC067852,XM_497547 P0C6E5,XP_497547 Putative high mobility group protein B3-like protein|high mobility group protein B3-like protein-like|high-mobility group box 3 pseudogene 27 protein-coding 4889223 HMGB3P28 high-mobility group box 3 pseudogene 28 12727900 100131036 AP001029,NG_022487 pseudo 4889673 HMGB3P29 high-mobility group box 3 pseudogene 29 12727900 100420015 AC010319,NG_024158 pseudo 4889695 HMGB3P30 high-mobility group box 3 pseudogene 30 12727900 203510 AL034450,CH471120,NG_022892 EAX02628 pseudo 4889693 HMGB3P31 high-mobility group box 3 pseudogene 31 12727900 392545 NG_022638,Z83826 pseudo 4889698 HMGB3P32 high-mobility group box 3 pseudogene 32 12727900 100507549 ABBA01025276,ABBA01025277,AC018552 pseudo 4146228 HMGB3P5 high-mobility group box 3 pseudogene 5 12727900 645360 AL355512,NG_022191 pseudo 4889218 HMGB3P6 high-mobility group box 3 pseudogene 6 12727900 729952 AL357512,NG_022815 pseudo 4889252 HMGB3P7 high-mobility group box 3 pseudogene 7 12727900 100420033 AL160153,NG_024948 pseudo 4889390 HMGB3P8 high-mobility group box 3 pseudogene 8 12727900 100506039 AC011328 pseudo 1606732 HMGB4 high-mobility group box 4 15489334,14702039,12477932,15197164,17207965,20970119 127540 NM_145205,AL121980,CH471059,AK097707,AK130859,AK310465,AK311985,BC021180,BC070148,BI827031,BX099695,DQ207367,CF272581,NR_033264,HC007024,HC044801 NP_660206,EAX07453,BAG34924,AAH21180,AAH70148,ABB22048,Q0QWA4,Q6NSH1,Q8WW32,CBH19317,CBH30730,ADQ31710 Hs.667683,Hs.725491 FLJ40388|MGC88128|dJ1007G16.5 HMG2 like|high mobility group protein B4 protein-coding 733716 HMGCL 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase 1599500,1300048,1580863,2326171,2326093,2326182 8440722,8102917,19177531,19036343,17459752,17173698,16330550,15764642,15752612,15489334,15164951,15122894,14702039,12477932,12464283,11952809,11129331,9463337,8978493,8798725,8617516,8027038,7527399,2116546,16169070,20558737,16344560,19932602,8889548,20877624 1599500,2326171,2326093,2326182 3155 NM_000191,AL031295,AL590728,CH471134,U49719,AI202943,AK122801,AK300733,AK309129,AK313869,BC010570,BC021145,BT009792,CR456884,CR592209,CR593217,CR599768,CR607081,CR608993,CR609177,CR609456,CR612765,CR613735,CR614394,CR623692,CR624928,CR625443,CR626171,FJ472654,L07033,BM981610,CA306929,DA425822,NG_013061,NM_001166059 NP_000182,CAI23161,EAW95094,EAW95095,EAW95096,EAW95097,AAB19099,BAG53736,BAG62406,BAG36597,AAH10570,AAP88794,CAG33165,ACK58684,AAA92733,P35914,Q6IBC0,ABM83009,ABM86202,NP_001159531 Hs.533444 HL 3-hydroxy-3-methylglutarate-CoA lyase|3-hydroxy-3-methylglutaryl coa lyase|3-hydroxy-3-methylglutaryl-CoA lyase|3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase|3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)|HMG-CoA lyase|OTTHUMP00000003004|OTTHUMP00000223530|hydroxymethylglutaricaciduria|hydroxymethylglutaryl-CoA lyase, mitochondrial protein-coding 1352812 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1 1580863 16344560,14702039,12477932,9110174,8619474,8440722,17207965,20379614 54511 NM_001042406,NM_019036,AL590290,AL590406,CH471081,AF131827,AK055075,AK127587,AK293856,AK294210,AK297191,AL137605,BC024194,DA508472,DB179645 NP_001035865,NP_061909,CAI39775,CAI40661,CAI40662,EAX04442,EAX04443,EAX04444,EAX04445,AAD20054,BAG51462,BAC87045,BAH11613,BAH11698,BAH12520,CAB70838,AAH24194,O95896,Q8TB92,Q9NT06,ADQ31715 Hs.147054 DKFZp434G1411|bA418P12.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1|3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1|OTTHUMP00000016648|OTTHUMP00000218063|probable 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2 protein-coding 731579 HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2313760,2313759,2313755,2313753,1580863,2316857,4892116 20571754,20578904,20602615,20628086,20679960,9853754,10698924,2991281,19336370,19327767,19148283,19088433,19067673,19060911,19060906,19053857,18996102,18815589,18802019,18787507,18676680,18660489,18622260,18559695,18459144,18354102,18332269,18261733,18193044,18056971,18024962,17870053,17855807,17652086,17284348,16930778,16054061,15811249,15489334,15473258,15233402,15199031,15146197,15090540,14697242,14684825,14556080,12871602,12860252,12803139,12778445,12535518,12477932,12477733,12213890,11894121,11716764,11349148,10695663,10449533,10391209,8406993,8028508,6491541,6479432,3896758,3866240,3860301,3308873,2998972,2369897,1979742,1755834,20864672,20935630,16014965,17681147,19170196,19197348,19446537,19460711,19554360,19558216,19625176,19667110,19692168,19773416,19906111,19913121,19923996,19948975,20031551,20031582,20031591,20145341,20167577,20235787,20388088,20403997,20409966,20413733,20450896,20540816,20691829,20972250,19887822,16168377 2313760,2313759,2313755,2313753,2316857,4892116 3156 AY429542,AY429543,BC024180,BC033692,CN278665,M11058,M62627,M62633,NM_001130996,NG_011449,AC008897,AF273765,AY321356,CH471084,AA648735,AK292892,AK296499,AK299655,AK312437,AY429541,NM_000859,HB386655 AAH33692,AAA52679,P04035,ABM81781,ABM84935,NP_000850,NP_001124468,AAG21343,AAP72015,EAW95754,EAW95755,EAW95756,BAF85581,BAH12375,BAG61573,BAG35346,CAZ64465 Hs.643495,Hs.628096 LDLCQ3 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)|3-hydroxy-3-methylglutaryl-Coenzyme A reductase|HMG-CoA reductase|OTTHUMP00000222062|hydroxymethylglutaryl-CoA reductase protein-coding 735555 HMGCS1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) 2302233,1300048,1580863,2316857,2326155,2326093,2326108 7913309,19088433,18660489,18636124,17081983,16344560,15489334,14702039,12477932,2877984,2870496,1971108,1358203,20346956 2302233,2316857,2326155,2326093 3157 NM_002130,NM_001098272,AC114947,CH471119,AK095492,AK315593,AL050004,BC000297,BC082234,BC083514,BT007302,CR591410,CR611799,DB078662,L25798,X66435 NP_002121,NP_001091742,EAW56054,EAW56055,EAW56056,BAC04559,BAG37965,AAH00297,AAH83514,AAP35966,AAA62411,CAA47061,Q01581,Q5XJ04,Q8N995 Hs.397729 HMGCS|MGC90332 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase|3-hydroxy-3-methylglutaryl coenzyme A synthase|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)|3-hydroxy-3-methylglutaryl-coenzyme a synthase 1|HMG-CoA synthase|hydroxymethylglutaryl-CoA synthase, cytoplasmic protein-coding 737571 HMGCS2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial) Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (HMGCS2; EC 2.3.3.10) mediates the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for brain, heart, kidney, and other organs during times of carbohydrate deprivation such as fasting (Robinson and Williamson, 1980 [PubMed 6986618]). Also see cytoplasmic HMG-CoA synthase (HMGCS1; MIM 142940), which mediates an early step in cholesterol synthesis.[supplied by OMIM] 1580863,2326126,2326133,2326135,2326121 19913121,20549515,20628086,17387528,16940161,15489334,12647205,12477932,11228257,9305755,7893153,6986618,11479731,7851882,18660489,18636124,20346956,20877624 2326126,2326133,2326135,2326121 3158 AK302276,NM_005518,AL589734,CH471122,U81859,AK301594,AK303777,AK313590,BC044217,BF964973,CR456850,CR618114,U12788,U12789,X83618,AI215948,BP420631,BX104280,GU433940,NG_013348,NM_001166107 NP_005509,CAI22408,EAW56709,EAW56710,AAB72036,BAH13520,BAH13664,BAH14049,AAH44217,CAG33131,AAA92673,AAA92674,CAA58593,P54868,Q6IBF4,ADD21696,NP_001159579 Hs.59889 3-hydroxy-3-methylglutaryl coenzyme A synthase|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)|HMG-CoA synthase|hydroxymethylglutaryl-CoA synthase, mitochondrial|mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase protein-coding 1317138 HMGN1 high-mobility group nucleosome binding domain 1 Chromosomal protein HMG14 and its close analog HMG17 (MIM 163910) bind to the inner side of the nucleosomal DNA, potentially altering the interaction between the DNA and the histone octamer. The 2 proteins may be involved in the process that maintains transcribable genes in a unique chromatin conformation. Their ubiquitous distribution and relative abundance, as well as the high evolutionary conservation of the DNA-binding domain of the HMG14 family of proteins, suggest that they may be involved in an important cellular function.[supplied by OMIM] 1580863 8047885,16780588,19524541,18287527,17938209,16729963,16253989,16061652,15489334,15302935,15147216,14702039,12773393,12477932,12215538,11438671,10830953,10753971,10739259,9852141,8534374,8514795,7563062,4022776,3782107,2563381,2140193,10469656,11025449,20211142 3150 AF064861,AL163279,CH471079,M21339,AB209245,AK056033,AK130775,AK315410,AL582106,BC000075,BC023984,BC070153,BC070154,BC071643,BC072672,BC106080,BC107741,NM_004965,BE779939,BT007337,CR591548,CR597521,CR601793,CR601988,CR614930,CR616640,CR618139,CR619497,CR619783,CR620500,CR625531,CR625629,J02621 NP_004956,CAB90453,EAX09650,EAX09651,EAX09652,EAX09653,EAX09654,EAX09655,EAX09656,AAA52677,BAD92482,BAB71078,AAH00075,AAH23984,AAH70153,AAH70154,AAH71643,AAH72672,AAI06081,AAI07742,AAP36001,AAA52676,P05114,Q3B790,Q6NSG7,Q96N32,ABM82667,ABM85845 Hs.356285,Hs.702472 FLJ27265|FLJ31471|HMG14|MGC104230|MGC117425 OTTHUMP00000069043|OTTHUMP00000109173|high mobility group nucleosome-binding domain-containing protein 1|high-mobility group (nonhistone chromosomal) protein 14|high-mobility group nucleosome binding 1|non-histone chromosomal protein HMG-14|nonhistone chromosomal protein HMG-14 protein-coding 1353111 HMGN1L1 high-mobility group nucleosome binding domain 1-like 1 12727900 319131 NG_002509,AL356801 HMGN1L1|HMGN1P1 pseudo 4889694 HMGN1P11 high-mobility group nucleosome binding domain 1 pseudogene 11 12727900 644534 AADB02006786,ABBA01022841,AC093891 pseudo 4889696 HMGN1P21 high-mobility group nucleosome binding domain 1 pseudogene 21 12727900 728325 AC087441,NG_005987 pseudo 4889720 HMGN1P25 high-mobility group nucleosome binding domain 1 pseudogene 25 100507124 AADB02016105,ABBA01048527,AL845552,XM_003118915,XM_003119584,XM_003120790 XP_003118963,XP_003119632,XP_003120838 high-mobility group nucleosome binding domain 1 pseudogene 25|non-histone chromosomal protein HMG-14-like protein-coding 4889771 HMGN1P26 high-mobility group nucleosome binding domain 1 pseudogene 26 12727900 100128015 AADB02016479,ABBA01038926,AC032011 pseudo 4889364 HMGN1P3 high-mobility group nucleosome binding domain 1 pseudogene 3 12727900 100036574 AL117694,NG_005988 pseudo 4889750 HMGN1P30 high-mobility group nucleosome binding domain 1 pseudogene 30 12727900 100132992 AC090324,NG_027555 pseudo 4889700 HMGN1P31 high-mobility group nucleosome binding domain 1 pseudogene 31 11181995,12727900 728111 AC113137,CH471096,XM_001126567,XM_001130116,XM_001714799,NG_027983 EAW63107,XP_001126567,XP_001130116,XP_001714851 hCG1659830|high-mobility group nucleosome binding domain 1 pseudogene 31 pseudo 4889674 HMGN1P36 high-mobility group nucleosome binding domain 1 pseudogene 36 12727900 728851 AC079337,NG_005985 pseudo 4890128 HMGN1P37 high-mobility group nucleosome binding domain 1 pseudogene 37 11181995,12727900 728776 AC109993,CH471172,CR599156,CR599799,CR603215,CR622902,NG_005984 EAW72653,EAW72654 Hs.463678 pseudo 4890199 HMGN1P38 high-mobility group nucleosome binding domain 1 pseudogene 38 12727900 643790 AC091544,CR623139,NG_005986 Hs.447529 pseudo 4889740 HMGN1P4 high-mobility group nucleosome binding domain 1 pseudogene 4 12727900 100036575 AL450304,NG_005989 pseudo 4889699 HMGN1P7 high-mobility group nucleosome binding domain 1 pseudogene 7 12727900 100129555 AADB02004439,ABBA01026971,AC117474 pseudo 1350424 HMGN2 high-mobility group nucleosomal binding domain 2 1580863 2394451,2040281,2037294,17474147,19524541,18299391,18287527,16710414,15489334,12477932,12032302,11438671,11410162,11337467,11246012,10753971,10640150,10207070,9852141,7563062,4022776,3754870,2565024 3151 AL513365,CH471059,X13546,AK026562,AU100588,BC000378,BC003050,BC003689,BC007124,BC014644,BC020307,BC032140,BC061898,BC064347,BC070297,BC071707,BC072010,BC072011,BC075837,BC081567,BC110390,BU074476,CR542122,CR590487,CR590834,CR592727,CR593313,CR595467,CR595538,CR596866,CR598323,CR599316,CR602382,CR605166,CR606135,CR607698,CR608465,NM_005517,CR609228,CR611141,CR612973,CR614459,CR619884,CR621179,CR622123,CR624004,CR624609,M12623 NP_005508,CAI21489,EAX07803,CAA31898,AAH00378,AAH03050,AAH14644,AAH32140,AAH70297,AAH71707,AAH72010,AAH72011,AAH75837,AAH81567,AAI10391,CAG46919,AAA52678,P05204,ABZ92038 Hs.181163 HMG17|MGC5629|MGC88718 high mobility group nucleosome-binding domain-containing protein 2|high mobility group protein N2|high-mobility group (nonhistone chromosomal) protein 17|non-histone chromosomal protein HMG-17|nonhistone chromosomal protein HMG-17 protein-coding 1352506 HMGN2L high-mobility group nucleosomal binding domain 2-like 12727900 728234 NG_005991,AL513423 A6NN55 HMGN2L pseudo 1353913 HMGN2L1 high-mobility group nucleosomal binding domain 2-like 1 12727900 319132 NG_002510,AL049829 HMGN2L1|HMGN2P pseudo 1342849 HMGN2L10 high-mobility group nucleosomal binding domain 2-like 10 10591208,12727900 23606 NG_000892,Z83840 HMG17L2|HMGN2L10|bK216E10 pseudo 1347323 HMGN2L11 high-mobility group nucleosomal binding domain 2-like 11 3441004 3152 NG_001141,AC074183,CH236949,X06353 28H|HMG17P1|HMGN2L11 pseudo 1343072 HMGN2L2 high-mobility group nucleosomal binding domain 2-like 2 12727900 317726 NG_002460,AC022404 HMGN2L2|HMGN2P2 pseudo 1626548 HMGN2L3 high-mobility group nucleosomal binding domain 2-like 3 10763410,9988767,12727900 728632 NG_005591,AC093509 HMGN2L3|HMGN2P3 pseudo 1626586 HMGN2L4 high-mobility group nucleosomal binding domain 2-like 4 12727900 643744 NG_006596,AC113404 HMGN2L4|HMGN2P4 pseudo 1626584 HMGN2L5 high-mobility group nucleosomal binding domain 2-like 5 12727900 727795 NG_006579,AC022613 HMGN2L5|HMGN2P5 pseudo 1626583 HMGN2L6 high-mobility group nucleosomal binding domain 2-like 6 12727900 643872 NG_006597,AL163052 HMGN2L6|HMGN2P6 pseudo 1626555 HMGN2L7 high-mobility group nucleosomal binding domain 2-like 7 12727900 644498 NG_006600,AC027125 HMGN2L7|HMGN2P7 pseudo 1346737 HMGN2L9 high-mobility group nucleosomal binding domain 2-like 9 10591208,12727900 23605 NG_002646 HMG17L1|HMGN2L9|dJ388M5|dJ388M5.2 pseudo 4889258 HMGN2P13 high-mobility group nucleosomal binding domain 2 pseudogene 13 12727900 100289682 AC117394 pseudo 4889376 HMGN2P15 high-mobility group nucleosomal binding domain 2 pseudogene 15 12727900 100288165 AADB02018456,ABBA01006409,AC100793 pseudo 4889677 HMGN2P17 high-mobility group nucleosomal binding domain 2 pseudogene 17 12727900 100113373 AL139415,NG_006598 pseudo 4889688 HMGN2P18 high-mobility group nucleosomal binding domain 2 pseudogene 18 12727900 648822 AL607067,NG_027556 pseudo 4889660 HMGN2P24 high-mobility group nucleosomal binding domain 2 pseudogene 24 12727900 729505 AC116441,NG_027554 pseudo 4889659 HMGN2P25 high-mobility group nucleosomal binding domain 2 pseudogene 25 12727900 729687 AC112504,NG_027552 pseudo 4889770 HMGN2P28 high-mobility group nucleosomal binding domain 2 pseudogene 28 12727900 100128372 AL031768,AL158139,AL591120,CH471087,NG_027664 EAW55079 pseudo 4889658 HMGN2P30 high-mobility group nucleosomal binding domain 2 pseudogene 30 12727900 100131183 AACC02000040,AADB02010451,ABBA01058171,AC073852,CH236951 pseudo 4889647 HMGN2P31 high-mobility group nucleosomal binding domain 2 pseudogene 31 12727900 645930 AADB02012449,ABBA01065415,AL135786 pseudo 4889661 HMGN2P41 high-mobility group nucleosomal binding domain 2 pseudogene 41 12727900 729564 AC106785,NG_006599 pseudo 4889301 HMGN2P8 high-mobility group nucleosomal binding domain 2 pseudogene 8 12727900,20208534,20379614 100288691 AC022394,AL390786,NG_027510 AC022394.1|HMGN2L8 pseudo 1352330 HMGN3 high mobility group nucleosomal binding domain 3 Thyroid hormone receptors are hormone-dependent transcription factors that regulate expression of a variety of specific target genes. The protein encoded by this gene binds thyroid hormone receptor beta, but only in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,17474147,7776974,17081983,15489334,14702039,14574404,12477932,12033773,11356838,15604093,19651901 9324 NM_004242,AL355796,CH471051,AF274949,AF401520,AK315391,AY043282,BC009529,BI551210,BK000003,BK000006,CR599808,CR604353,L40357,BX648085,NM_138730,AK124181,BF790582,NM_001201362,NM_001201363 NP_004233,NP_620058,CAH74094,CAH74095,EAW48711,EAW48712,EAW48713,EAW48715,AAK07526,AAK92012,BAG37784,AAK85736,AAH09529,DAA00392,DAA00395,AAA73877,Q15651,CAI46267,EAW48714,NP_001188291,NP_001188292 Hs.77558 DKFZp686E20226|FLJ42187|PNAS-24|PNAS-25|TRIP7 TR-interacting protein 7|TRIP-7|high mobility group nucleosome-binding domain-containing protein 3|high-mobility group protein HMGN3|thyroid hormone receptor interacting protein 7|thyroid hormone receptor interactor 7|thyroid receptor-interacting protein 7 protein-coding 4889283 HMGN3P1 high mobility group nucleosomal binding domain 3 pseudogene 1 12727900 100289191 AADB02000926,ABBA01049416,AL135842 pseudo 1344098 HMGN4 high mobility group nucleosomal binding domain 4 The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq] 1580863 16344560,15489334,14574404,12477932,11410162,9149941,20211142 10473 NM_006353,AL121936,CH471087,AK311841,AU143224,BC001282,BC035998,BT009824,CR601032,CR606138,CR613004,CR621282,CR625909,U90549 NP_006344,CAC16803,EAW55586,EAW55587,EAW55588,EAW55589,EAW55590,BAG34783,AAH01282,AAP88826,AAB53427,O00479,ADR82730 Hs.236774 HMG17L3|MGC5145|NHC OTTHUMP00000016171|high mobility group nucleosome-binding domain-containing protein 4|high mobility group protein N4|high-mobility group (nonhistone chromosomal) protein 17-like 3|high-mobility group protein 17-like 3|non-histone chromosomal protein HMG-17-like 3 protein-coding 2302190 HMGXB3 HMG box domain containing 3 9027509,18029348,12477932,8786123,8724849,2524025,16344560,20041166,8889548 22993 AC011382,AC011406,U63963,BC005880,BC035219,BC035434,BC051025,BC063691,BC092520,CR618661,CR625129,D83778,BM974831,DA324742,NG_021389,NM_014983 AAB51697,AAH05880,AAH51025,AAH63691,AAH92520,BAA12107,Q12766,Q562E5,Q6P442,Q9BRX4,NP_055798 Hs.719189 HMGX3|KIAA0194|SMF HMG domain-containing protein 3|OTTHUMP00000224090|OTTHUMP00000224091 protein-coding 1314021 HMGXB4 HMG box domain containing 4 1580863 10329004,18029348,17671966,16455055,15461802,12529303,12477932,10591208,20511232,20379614,20800603 10042 NM_001003681,BC033783,BC040447,BC052624,BC062413,BC080611,BC104754,BC104756,BC111373,CB991207,CR456504,CR608426,DW452042,NR_027780,AL008635,CH471095,AI471703,AJ010069,AJ010070,AK299833,AL079310,BC004194,BC011723,BC017326,BC025303 AAH25303,AAH52624,AAH62413,AAI04755,AAI04757,AAI11374,CAG30390,Q2M3X1,Q2T9L2,Q6P681,Q6PJ09,Q6PJC1,Q7Z641,Q9UGU5,CAK54533,CAK54832,CAI21632,EAW60048,EAW60049,EAW60050,EAW60051,CAA08991,CAA08992,BAG61700,CAB45240,AAH04194,AAH17326,NP_001003681,CAQ11032,CAQ11033 Hs.588815 HMG2L1|HMGBCG|THC211630 HMG box-containing protein 4|HMG domain-containing protein 4|high mobility group protein 2-like 1|high-mobility group protein 2-like 1 protein-coding 1606818 HMHA1 histocompatibility (minor) HA-1 19913121,20628086,19234124,18414982,18093280,17580157,16984283,15593299,15498856,15350465,14702039,14502255,12477932,12091347,11965046,11920221,11095984,10958358,9820596,9039502,8843592 23526 AC004151,AC011558,AC093066,AF092537,AF207595,AF207596,AF207597,AF236756,AF308045,AF308046,AF308047,AF308048,AF308049,AF308050,AF308051,AF308052,AF308053,AF308054,AF308055,NM_012292,BC048129,BC065223,CR603358,CR608309,D86976,AF308057,AF308059,AF308060,AF308061,AF308062,AF308063,AF308064,AF308065,AF308066,CH471139,AK122776,AK128097,AK300341,AK304271,AK304765,AF308056,AF308058,BC035564 NP_036424,AAC03237,AAC64140,AAG02014,AAG02015,AAG02016,AAF91292,AAN04658,AAH35564,AAH48129,AAH65223,BAA13212,O78181,Q8IYN3,Q92619,EAW69551,EAW69552,EAW69553,EAW69554,EAW69555,BAG53721,BAG54629,BAG62086,BAH14146,BAG65520 Hs.465521 HA-1|HLA-HA1|KIAA0223 minor histocompatibility antigen HA-1|minor histocompatibility protein HA-1 protein-coding 1602470 HMHB1 histocompatibility (minor) HB-1 This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq] 19240061,18093280,12477932,9892612,20353833 57824 AC025765,AF233094,CH471062,AF103884,BC096711,BC098145,BC098244,BC098251,BC104412,BC104413,BC113894,BC113971,NM_021182 NP_067005,AAF81110,EAW61867,AAC78642,AAI04413,AAI04414,O97980 Hs.158320 HB-1|HLA-HB1 minor histocompatibility antigen HB-1|minor histocompatibility protein HB-1 protein-coding 1346445 HMI hypomelanosis of Ito 12239727,11074501 3160 737426 HMMR hyaluronan-mediated motility receptor (RHAMM) The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 1580863 19424574,19148505,19092852,19064580,19001852,18971636,18559599,18425326,18354082,18174258,17978170,17922014,17872502,17395888,17392272,17157168,16565220,16344560,16112646,15809329,15705883,12808028,12712331,12477932,12225794,11716065,11448954,11433424,11403955,10216086,9601098,8890751,8595891,7683315,7541721,1602151,10547355,10882722,20619784,12939665,19212667,19580345,19724689,19857547 3161 NM_012484,NM_012485,NM_001142557,AC112205,CH471062,AF032862,AK290577,AK302975,AK303616,AK313603,AW629232,AY623426,NM_001142556,BC030505,BC033568,BC057235,BC070281,BC107869,BC108904,BC108905,CR592683,CR601287,DB091289,U29343,NG_023309,BC017793 NP_001136028,NP_036616,NP_036617,NP_001136029,EAW61521,EAW61522,EAW61523,EAW61524,EAW61525,AAC32548,BAF83266,BAG64118,BAG64626,AAH17793,AAH30505,AAH57235,AAH70281,AAI08905,AAC52049,O75330,Q05D84,Q05DM0,Q6NSC0,Q6PG44,Q6PIR6 Hs.72550 CD168|IHABP|MGC119494|MGC119495|RHAMM OTTHUMP00000196920|hyaluronan mediated motility receptor|intracellular hyaluronic acid binding protein|intracellular hyaluronic acid-binding protein|receptor for hyaluronan-mediated motility protein-coding 730901 HMOX1 heme oxygenase (decycling) 1 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq] 1580454,1580455,1580470,1580472,1300048,1582708,1582709,1582711,1582713,1582715,1598406,1598408,1598409,1598410,1358658,1601607,1601608,1601621,1582701,1580452,1598392,1598393,1598394,1580453,1598395,1598396,1598397,1598398,1598399,1598400,1598401,1598402,1598403,1598404,1598405,1582702,1601606,1547877,1580863,4143390,4140396,4145288,4145326,4145332,4145406,4145366,4145370,4145403,4145404,4145408,4145412,4145131,4145362,4145325,4145338,4145371,4145514,4145286,4145134,4145269,4145296,4145327,4145372,4145384,4145318,4145349,4145350,4145289,4145410,4145283,4145302,4145305,4145306,4145346,4145417,4145353,4145416,4145307,4145300 19913121,20155807,20188821,20345481,20430037,20485444,20526373,20585394,20587610,20597111,20599261,20628086,20682519,20689807,20708634,20796278,18274635,15547665,12709590,12202863,18272347,18261117,18234118,18216050,18202225,18201862,18200441,18195184,18174022,18093274,18077487,18050210,18048809,18045827,18042465,18007994,17991645,17971338,17964723,17927807,17919492,17919491,17896171,17886034,17883332,17873285,17853070,17823375,17726138,17721824,17667816,17657593,17620093,17603281,17601350,17600318,17567933,17558910,17541213,17531161,17526500,17526019,17520317,17511591,17467999,17452746,17413033,17400606,17391133,17389623,17295091,17277740,17254481,17244614,17229906,17219054,17216339,17211576,17204476,17203192,17095719,17081983,17079780,17065227,17064313,17020887,17018862,17018578,17003650,16999951,16971418,16951197,16950787,16945925,16923960,16887359,16882737,16849502,16840713,16804400,16783602,16772700,16771696,16724942,16712795,16697692,16620829,16609364,16596642,16582079,16545694,16540907,16530877,16495813,16485041,16474202,16462769,16455537,16399210,16387424,16374439,16319139,16313248,16309588,16309586,16309585,16271489,16249618,16234431,16232329,16210136,16189191,16181102,16154535,16123320,16117883,16100019,16020495,15964514,15899048,15897578,15885363,15878918,15875813,15849554,15834587,15833736,15817713,15805230,15797755,15797262,15763346,15741166,15690204,15688187,15661856,15652505,15629867,15618017,15611319,15581622,15544924,15525643,15522396,15519649,15474356,15470195,15465821,15461802,15451051,15365571,15337692,15336443,15319861,15316927,15297453,15285018,15284058,15233805,15184199,15166181,15161530,15140586,15084931,15064108,15049686,15028349,15024026,15004156,14992466,14988408,14981149,14733911,14726403,14715242,14691581,14683741,14660632,14647439,14635185,14615405,14587309,14529548,14523007,14521259,13678532,12969148,12947311,12941774,12933701,12927819,12927812,12891549,12872043,12865654,12842469,12832044,12810075,12805077,12783778,12777398,12736395,12730098,12716475,12709592,12153964,12151344,12136229,12133007,12130498,12118938,12117910,12099373,12091240,12086318,11986386,11849436,11829463,11820797,11786534,11727267,11718398,11385506,10952020,10631150,10591208,10467099,10082382,9890653,8650873,8146161,8034330,7778849,2911585,2537723,12182912,20345975,12909459,20705711,20482362,20121710,20232486,15516695,9884342,12761501,12239590,17915953,14525760,17652371,18205746,18289072,3345742,18307065,19676145,19590927,19548360,19526221,19487598,19475336,19457084,19428335,19389234,19371606,19360326,19336475,19325051,19303319,19289500,19282863,19255063,19250338,19246912,19243105,19243019,19238116,19236506,19194559,19165391,19133325,19129475,19122175,19120903,19056482,18983509,18981090,18977241,18975324,18957281,18930811,18923065,18845641,18841019,18811919,18804049,18799519,18787101,18786476,18769149,18757839,18692581,18689604,18665050,18651163,18640487,18620357,18597895,18587252,18586007,18582925,18576916,18566988,18560362,18550526,18544348,18524839,18515325,18508827,18502573,18483307,18461097,18460015,18459998,18443197,18404535,18390757,18381758,18344023,18332044,18312299,18275848,18596041,12709569,12709568,12709566,12690112,12679469,12649161,12626517,12585963,12579334,12566526,12500973,12493432,12480749,12477932,12469218,12433915,12431619,12397597,12396617,12379283,12377749,12376366,12376363,12376298,12222997,12207883,20395442,20811623,20667089,20832528,20846452,21080099,19924377,20504881,20633528,20706680,20021945,21037234,21081499,15342556,17953374,19255829,19399816,19422386,19445907,19457866,19484149,19508729,19522732,19526463,19536150,19556236,19578796,19586801,19587144,19604147,19625608,19669099,19696228,19741031,19777608,19785642,19797297,19808663,19808972,19822148,19850937,19853072,19874887,19884647,19886851,19895178,19903700,19903769,19910578,19925812,19965783,20020468,20039940,20049130,20064636,20110814,20127796,20175935,20190330,20193368,20194081,20223113,20229611,20299368,20346360,20351094,20386498,20404253,20416077,20508205,20509889,20518850,19879747 1580454,1580455,1580470,1580472,1582708,1582709,1582711,1582713,1582715,1598406,1598408,1598409,1598410,1358658,1601607,1601608,1601621,1582701,1580452,1598392,1598393,1598394,1580453,1598395,1598396,1598397,1598398,1598399,1598400,1598401,1598402,1598403,1598404,1598405,1582702,1601606,1547877,4143390,4140396,4145288,4145326,4145332,4145406,4145366,4145370,4145403,4145404,4145408,4145412,4145131,4145362,4145325,4145338,4145371,4145514,4145286,4145134,4145269,4145296,4145327,4145372,4145384,4145318,4145349,4145350,4145289,4145410,4145283,4145302,4145305,4145306,4145346,4145417,4145353,4145416,4145307,4145300 3162 NM_002133,AY460337,CH471095,X14782,Z82244,AF051791,AK313120,BC001491,BT019785,CR456505,CR541945,CR541968,CR590034,CR592402,CR594865,CR595835,CR596243,CR598003,CR600636,CR601640,CR603909,CR605543,CR609687,CR609692,CR611293,CR611539,CR612044,CR612068,CR615425,CR615434,CR615696,CR615878,CR615893,CR617367,CR617513,CR622130,CR623238,CR623301,CR623799,CR624289,CR625550,CR625992,CR626132,M23041,M23042,X06985,BP288767,CA306357,NG_023030 NP_002124,AAR23262,EAW60059,CAA32886,CAB05109,BAG35941,AAH01491,AAV38588,CAG30391,CAG46743,CAG46766,AAA50403,CAA30045,P09601,Q6FH11,Q96DI8,CAK54534,CAK54833,ABM83236,ABM86436,CAQ08826 Hs.517581 HO-1|HSP32|bK286B10 heat shock protein, 32-kD|heme oxygenase 1 protein-coding 68991 HMOX2 heme oxygenase (decycling) 2 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Alternative splice variants encoding the same protein have been identified at this locus. [provided by RefSeq] 1580863 20485444,1575508,15528406,18977241,17965015,17601350,17540772,17510199,17064313,16344560,16169070,16137652,16043027,15489334,15342556,14702039,14615405,14527438,14506930,12578814,12477932,12057765,11572959,11171041,11027601,9373149,9284910,8764571,8125298,8034330,7890772,12775419,20629646,12909459,19246912,19345412,19399816,19473966,19615732,19874887,19886851,20118244,21044367,20502928 3163 NM_001127204,NM_001127205,NM_001127206,AC007606,AY771350,CH471112,AF051306,AK093388,AK222629,AK313660,BC002396,BI225653,BP368949,BT019788,CR456760,NM_002134,CR541839,CR600145,CR603198,CR607350,CR614764,D21243,DA141643,DA694137,S34389 NP_001120676,NP_001120677,NP_001120678,AAV28730,EAW85299,EAW85300,AAC05297,BAG52702,BAD96349,AAH02396,AAV38591,CAG33041,NP_002125,CAG46638,BAA04789,AAB22110,P30519,Q53HF1,Q6FHB5,Q6IBP2,ACE87144,ACE86463 Hs.284279 HO-2 heme oxygenase 2 protein-coding 1602121 HMP19 HMP19 protein 15489334,15383276,12477932,10931946,7829526,16169070 51617 AC093310,AC113423,CH471062,AF113537,AF123767,AF133422,AK098398,AK294383,AK295206,AK297196,AK312359,BC002619,NM_015980,BC018873,CR457142,CR596490,CR598992,CR626441,AK315952 NP_057064,EAW61383,EAW61384,EAW61385,EAW61386,AAF14874,AAP97246,AAD30539,BAG57640,BAG58202,BAG59683,BAG35277,AAH02619,CAG33423,Q6IAL2,Q7Z4X6,Q9Y328,BAH14323 Hs.559412 NSG2|hypothalamus golgi apparatus expressed 19 kDa protein|neuron-specific protein family member 2|p19 protein|protein p19 protein-coding 1344965 HMS1 homosexuality 1 8332896 3165 1602170 HMSD histocompatibility (minor) serpin domain containing 17409267,16177791,8889548 284293 NG_027807,NM_001123366,AC009802,AW205887,BM696260 NP_001116838,A8MTL9 Hs.721604 ACC-6|C18orf53|HSMD-v OTTHUMP00000066998|minor histocompatibility protein HMSD|minor histocompatibility serpin domain-containing protein|serpin-like protein HMSD protein-coding 1312652 HMX1 H6 family homeobox 1 1580863 1360670,10206974,18423520,7647458,12477932 3166 NM_018942,AC116612,U17648,M99587,NG_013062 NP_061815,AAC50156,AAF70205,Q13028,Q9NP08,AAI60031 Hs.104134 H6|NKX5-3 H6 homeodomain protein|homeobox protein H6|homeobox protein HMX1 protein-coding 1344941 HMX2 H6 family homeobox 2 12477932,7647458,19253379 3167 NM_005519,AC012391,CH471066,BC132758,BC137139,BQ929484 NP_005510,EAW49288,AAI32759,AAI37140,A2RU54 Hs.444756 H6L|Nkx5-2 H6 homeo box 2|homeo box (H6 family) 2|homeo box (h6 family) 2|homeobox (H6 family) 2|homeobox protein H6 family member 2|homeobox protein HMX2 protein-coding 1603243 HMX3 H6 family homeobox 3 19253379,15164054,19615732 340784 NM_001105574,AC012391,CH471066,AW088771 NP_001099044,EAW49289,A6NHT5 Hs.531194 NKX-5.1|NKX5.1|Nkx5-1 homeo box (H6 family) 3|homeobox (H6 family) 3|homeobox protein H6 family member 3|homeobox protein HMX3|homeobox protein Nkx-5.1 protein-coding 1348734 HN1 hematological and neurological expressed 1 17081983,16602700,15489334,15094197,12477932,11054553,9373149,8125298,16169070,19145478 51155 CR592277,CR592678,CR594206,CR594240,CR594573,CR596640,CR601210,CR602662,CR604677,CR605404,CR605576,CR605958,CR608252,CR608874,CR610842,CR613024,CR615283,CR615505,CR616877,CR620568,CR623069,CR624118,CR625805,CR626175,CR626249,AF177862,AF266846,AK223321,AK308253,AK312613,AY322169,AY322170,BC001420,BC039343,CD359142,CR590293,CR590555,CR590585,NM_016185,NM_001002032,NM_001002033,AC022211,AF266847,AF348672,CH471099,AF060925,AF086910 Q9H3K0,Q9UK76,ABM82835,ABM86020,ABM87834,AAD53312,AAQ14298,BAD97041,BAG35500,AAP83838,AAP83839,AAH01420,AAH39343,NP_057269,NP_001002032,NP_001002033,AAQ14299,AAL83903,AAP83962,AAP83963,EAW89244,EAW89245,EAW89246,EAW89247,AAG43137,AAP97140,ABW03454 Hs.532803 ARM2|HN1A OTTHUMP00000205897|androgen-regulated protein 2|hematological and neurological expressed 1 protein protein-coding 1312960 HN1L hematological and neurological expressed 1-like 16964243,15489334,15334068,15094197,14702039,12477932,11157797,10718198,16169070,19584346,16341674 90861 AE006639,AL031009,AL031710,AY323831,CH471112,AK023154,AK296888,AK296998,AK303927,AK304025,NM_144570,AK309930,AK316514,AY323978,AY323979,AY598330,BC014438,BC060853,BM474060,BM837125,CR599975,AK309909,CS489579 NP_653171,AAK61288,AAK61289,CAA19770,CAM26365,AAP72616,EAW85634,EAW85635,EAW85636,EAW85637,EAW85638,BAB14434,BAG59447,BAG59536,BAG64855,BAG64940,BAH14885,AAP83791,AAP83792,AAT06741,AAH14438,AAH60853,Q9H910,CAM57895 Hs.513261 C16orf34|FLJ13092|KIAA1426|L11 CRAMP_1 like|HN1 like|HN1-like protein|hematological and neurological expressed 1-like protein protein-coding 1352475 HNB1 hereditary neuroblastoma 1 54111 737153 HNF1A HNF1 homeobox A The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq] 1601479,1601481,2293188,2301829,2301828,2301873,2301863,2301827,1601482,1580863 19913121,20571754,20581827,20628086,20634891,20648472,20679960,20682687,20716378,20727736,20738937,20863361,20971364,21062467,20393147,21196492,21203500,20132997,11269503,1677179,19169489,19264593,19357985,19536331,19578796,19672314,19687008,19741195,19749792,19782160,19794065,19878569,19924231,19933992,20018894,20028982,20031592,20069546,20075150,20096102,20106981,20113359,20133952,20172480,20394740,20416077,20546258,20829431,18671716,18593771,18586913,18513305,18513302,18498634,18440731,18439552,18439548,18433912,18433021,18399756,18391435,18346225,18332101,18221440,18172616,18080173,18003757,17965524,17937063,17932728,17828387,17638895,17601994,17573900,17569132,17475670,17458140,17440429,17440016,17407072,17353931,17327436,17264800,17194452,17192490,17130528,17116178,17049664,17037983,17033837,17021248,16963153,16930618,16893891,16873704,16793932,16788384,16781669,16760222,16752173,16714285,16712787,16675441,16632067,16562587,16443774,16442529,16367885,18672310,10330009,15961790,11980910,15277395,19567438,19564454,19490620,19453261,19388975,19351817,19349540,19336507,19304666,19289501,19280766,19228875,19198612,19188435,19150152,19119252,19060906,18940312,18854284,18811724,18777455,18720549,16297991,16276364,16254374,16249556,16241915,16223942,16186275,16046319,16046299,15983330,15983230,15930087,15928245,15899904,15847654,15841481,15830177,15740590,15660729,15660195,15569134,15542842,15522234,15520459,15489334,15326484,15305805,15300627,15270800,15217781,15194767,15111528,14988562,14747304,14728801,14715527,14583183,14575719,14500717,12934344,12860991,12794133,12788852,12773136,12762846,12743700,12730871,12726923,12712243,12707037,12627330,12605834,12574234,12565907,9754819,9626139,9621514,9604876,9439666,9392505,9313764,9313763,9287055,9287053,9166684,9133564,9112026,9097962,9092652,9075819,9075818,9032114,8945470,8288579,7900999,7795649,2460858,2263635,2044952,1707031,1535333,15616580,12544512,12530534,12488962,12488961,12488960,12477932,12453976,12453975,12453961,12453420,12442280,12378390,12355088,12235114,12107757,12107263,12050210,12012276,12011060,11978637,11938027,11827432,11772903,11668618,11522670,11440371,11266540,11162430,11134330,10944108,10779377,10777539,10677375,10649494,10588527,10482964,10333057,10209158,10102714,10084598,10078571,9867222,9792724,12547858,20460578,20396999,20633866 1601479,1601481,2293188,2301829,2301828,2301873,2301863,2301827,1601482 6927 HM449088,HM449089,NM_000545,NG_011731,AC079602,CH471054,EF641294,U72618,AK298422,AW294801,BC104908,BC104910,BC143483,BE348240,BM854591,CR595845,M57732,X71346,X71347,HM116541,HM116542,HM116543,HM116544,HM116545,HM116546,HM116547,HM116548,HM116552,HM116557,HM116558,HM116559,HM116561,HM116563,HM116549,HM116560 ADK56177,ADK56178,NP_000536,EAW98226,EAW98227,EAW98228,ABR09270,AAC51137,BAG60646,AAI04909,AAI04911,AAA88077,CAB59201,P20823,ABZ92189,ADM43481,ADM43495,ADM43496,ADM43497,ADM43482,ADM43483,ADM43484,ADM43485,ADM43486,ADM43487,ADM43488,ADM43489,ADM43494,ADM43498 Hs.654455 HNF-1A|HNF1|IDDM20|LFB1|MODY3|TCF-1|TCF1 HNF-1-alpha|HNF-1A|HNF1A homeobox A delta 2|HNF1A homeobox A insIVS8|OTTHUMP00000198945|TCF-1|albumin proximal factor|hepatic nuclear factor 1|hepatocyte nuclear factor 1-alpha|interferon production regulator factor|liver-specific transcription factor LF-B1|transcription factor 1|transcription factor 1, hepatic|transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor 1643461,2289480,2316666,2316668 BW105_H,SLEP16_H,GLUCO252_H,GLUCO244_H protein-coding 69136 HNF1B HNF1 homeobox B This gene encodes a member of the transcription factor superfamily. The encoded protein forms heterodimers with another member of this transcription factor family, HNF1A. Multiple alternatively spliced transcript variants have been described, however the biological validity all of these variants needs to be determined. [provided by RefSeq] 2312750,2312751,1601484,2312748,2312749 19913121,20538322,20571754,20590552,20628086,20633866,20682687,20690139,20581827,20676098,16297991,10720943,18029348,19487294,19423541,19389850,19366831,19324937,19320191,19318432,19247372,19228875,19168595,18811724,18794092,18758462,18644064,18536653,18509286,18426861,18418350,18399756,18393978,18332101,18264097,18264096,18212765,18066692,18065799,18037103,17971380,17928287,17924661,17923767,17922147,17878605,17603485,17503391,17327436,17267738,17116179,16971658,16873704,16801329,16793932,16781669,16676400,16562587,16479257,20211142,20712903,20717903,20878950,20879858,20889853,21071540,21160077,20543213,16258507,16249435,15961790,15660195,15647252,15522234,15509593,15489334,15486044,15355349,15111528,15067324,14633622,14583183,12675839,12477932,12161522,12148114,12012276,11918730,11880302,11845238,11845237,11716293,11668623,11206404,11085914,10484768,9671480,9398836,7900999,2081590,2044952,1677179,16443774,19346182,19361964,19417042,19549807,19627283,19741195,19760597,19767753,19767754,19833888,19866473,19900942,19902474,19924231,19959718,19998368,20025686,20026053,20075150,20155289,20161779,20203524,20215779,20378641,20379614,20384434,20450899,20460480,20526366 2312750,2312751,1601484,2312748,2312749 6928 NM_000458,AC091199,AC113211,CH471199,U90287,AI797324,AK290131,AK296633,AK298393,BC017714,BT007126,CR536572,DC340648,X58840,X71348,HM116553,HM116554,HM116555,HM116556,NG_013019,NM_001165923 NP_000449,EAW57602,EAW57603,AAC63388,BAF82820,BAG59235,BAG60628,AAH17714,AAP35790,CAG38809,CAA41652,CAB59223,P35680,Q6FHW6,ABM82454,ABW03416,ADM43490,ADM43491,ADM43492,ADM43493,NP_001159395 Hs.191144 FJHN|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|TCF2|VHNF1 HNF-1-beta|HNF-1B|HNF1 beta A|TCF-2|hepatocyte nuclear factor 1-beta|homeoprotein LFB3|transcription factor 2|transcription factor 2, hepatic|variant hepatic nuclear factor 1 protein-coding 69093 HNF4A hepatocyte nuclear factor 4, alpha The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 2301837,2301838,2301839,2301863,2301836,1601642,1601637,1580863 19913121,20628086,20682687,20670916,20735474,17923767,17920062,17894829,17891372,17885207,17876342,17827402,17805472,17785436,17764444,17601994,17576804,17574576,17563455,17466274,17464991,17407387,17403900,17393984,17353931,17344191,17343826,17327436,17317687,17300672,17291450,17264800,17259399,17052457,17022998,17007050,16980607,16978381,16955255,16946562,16936201,16929032,16893891,16883527,16882880,16873704,16838170,16804065,16771709,16752173,16731861,16731855,16644680,16584384,16562587,16523192,16502298,16488887,16351573,16338932,16223942,16186411,16051671,16007190,15983230,15933212,15928245,15919766,15831710,15830177,15826954,15796896,15794920,15793260,15752752,15735892,15735891,15734869,15728204,15660729,15561969,15547294,15520459,15519277,15504983,15470081,12220494,7615825,12911579,17827783,18163890,10551874,18029348,14563941,19467232,19435525,19406499,19353766,19228884,19228875,19188435,19179483,19154258,19147806,19060906,19048623,18988528,18844932,18829458,18811724,18805788,18765665,18728231,18666237,18660489,18654034,18602983,18561282,18552123,18513302,18513187,18498634,18426912,18395097,18391435,18356407,18346225,18332101,18305375,18305369,18268044,18234786,18199540,18184923,18162503,18056193,18028455,17992261,17991764,17965524,17958743,17932483,20086032,20558840,15358161,15337761,15322103,15281001,15194767,15123688,15047633,15047632,14988562,14722127,14702039,14654354,14551916,12855700,12829997,12740371,12701690,12697672,12669197,12631740,12627330,12551987,12544512,12522137,12519792,12504020,12413008,12235114,12203996,12133007,12110948,12101254,12089346,12086970,12083813,12050210,12036449,11994285,11916906,11834723,11818510,11811951,11780052,11772903,11741883,11733490,11717395,11590126,11549316,11229886,10995777,10786636,10737800,10652338,10609119,10085149,9812974,9795230,9792724,9717844,9449683,9434765,9371825,9313765,9294105,9267996,9243109,9115274,9048927,8964514,8945471,8622695,7926813,7651430,7568236,1899928,10594021,12944908,15616580,20576917,20622021,10330009,12477932,15604093,15651981,15744310,19115260,19302415,19336534,19389810,19454287,19549071,19563409,19575803,19578796,19651776,19748811,19761587,19805548,19846556,19915572,19924231,19934400,19948975,19966299,20003313,20079163,20164212,20167659,20308432,20361036,20379614,20384434,20158877,19740748,20211142,20714348,20863361,20878384,21062274,20463007,20546279,20871093,21047794,16712791 2301837,2301838,2301839,2301863,2301836,1601642,1601637 3172 NM_175914,NM_001030003,NM_001030004,NM_000457,NM_178849,NM_178850,NG_009818,AF509467,AL117382,AL132772,CH471077,U72967,U72969,AB307703,AK096973,AW935533,AY680696,AY680697,AY680698,BC137539,BC137540,CB163637,FJ608822,X76930,X87870,X87871,X87872,Z49825,EF591040 NP_787110,NP_001025174,NP_001025175,NP_000448,NP_849180,NP_849181,AAM34296,CAI23113,CAC01303,CAI18856,CAI18857,CAI18863,EAW75921,EAW75922,EAW75923,EAW75924,EAW75925,AAB48083,AAB48082,BAH02294,AAT91237,AAT91238,AAT91239,AAI37540,AAI37541,ACM50922,CAA54248,CAA61133,CAA61134,CAA61135,CAA89989,P41235,Q5QPB7,Q5TE57,Q8NHY1,ABQ52204 Hs.116462 FLJ39654|HNF4|HNF4a7|HNF4a8|HNF4a9|HNF4alpha|MODY|MODY1|NR2A1|NR2A21|TCF|TCF14 HNF-4-alpha|HNF4alpha10/11/12|TCF-14|hepatic nuclear factor 4 alpha|hepatocyte nuclear factor 4-alpha|nuclear receptor subfamily 2 group A member 1|transcription factor 14|transcription factor HNF-4|transcription factor-14 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,2289429,2289431,2316342 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW177_H,BW178_H,GLUCO236_H protein-coding 1348484 HNF4B hepatocyte nuclear factor 4, beta 8622695 3173 1320814 HNF4G hepatocyte nuclear factor 4, gamma 1580863 8622695,18029348,17684544,16421571,12544512,12477932,12220494,10512380,20211142,20935630,21047794,15604093 3174 AC040917,AF133504,CH471068,AB307704,AK025222,BC054009,BC105009,BC105011,BX571750,CR542091,Z49826,NM_004133 CAA89990,Q14541,Q6FGL6,Q7Z5U9,ACE87623,NP_004124,AAF00110,EAW87040,EAW87041,BAH02295,AAH54009,AAI05010,AAI05012,CAE11875,CAG46888 Hs.241529 NR2A2|NR2A3 HNF-4-gamma|OTTHUMP00000195119|hepatocyte nuclear factor 4-gamma|nuclear receptor subfamily 2 group A member 2 protein-coding 3028810 HNF4GP1 hepatocyte nuclear factor 4, gamma pseudogene 1 18065488 100130462 AL138997,AL590304,NG_016594 pseudo 733644 HNMT histamine N-methyltransferase In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq] 1580863,1300048,1359041 20551163,20602615,7943261,19343046,19258923,19247692,19178400,19156168,19025430,18543121,18266724,18254975,18154359,18086566,17985251,17703412,17651147,16950574,16669609,16554448,16489678,16205835,15953854,15815621,15770103,15693910,15551002,15489334,14667820,12867290,12835614,12755416,12477932,12417108,12358773,12167489,11566133,10803682,9547362,8605025,8145732,21040557,19538200,19773194,19898482,20237496,20379614,20503287 1359041 3176 NM_006895,NM_001024075,NM_001024074,AB041388,AC093674,AF467014,CH471058,U44111,AA935821,AF523356,AF523357,AF523358,AF523359,AF523360,AK301462,AK313804,BC005907,BC020677,CR613970,D16224,U08092,NG_012966 NP_008826,NP_001019246,NP_001019245,BAA94473,AAY24212,AAP42155,EAX11612,EAX11613,EAX11614,AAB18137,AAN33014,AAN33015,AAN33016,AAN33017,AAN33018,BAG62983,BAG36540,AAH05907,AAH20677,BAA03752,AAA17423,P50135,Q8IU56,Q9BRW6,Q9P1Y0,ABM82092,ABM85274 Hs.42151 HMT|HNMT-S1|HNMT-S2 OTTHUMP00000204203|OTTHUMP00000214278|histamine N-methyltransferase protein-coding 1318867 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq] 1580863 16169070,17215244,17643375,7585247,12226669,19165527,15782174,15635413,15592455,15489334,12477932,12456657,11161817,8889549,8889548,8325628,8012384,1602151 10949 BF445078,BM968394,CR456986,CR592229,CR592616,CR592858,CR596658,CR598679,BC030249,CR599659,CR604783,CR605629,CR607192,CR607265,CR607296,CR608582,CR608808,CR611804,CR614650,CR614845,CR617807,CR618572,CR619462,CR619753,CR622742,CR625176,CR625209,CR625349,L10372,U23803,HB887001,HC944410,AC106791,CH471062,Z61116,AA081021,AA442538,BC001008,BC007271,BC009284,BC011972,BC012490,BC012980,BC018800,BC018949,BC019271,BC028976,NM_006805 Q13151,AAH30249,CAG33267,AAA65094,CBF67657,CBU92531,NP_006796,EAW62182,AAH01008,AAH07271,AAH09284,AAH11972,AAH12980,AAH18949,AAH19271,AAH28976 Hs.96996 HNRPA0 heterogeneous nuclear ribonucleoprotein A0|hnRNA binding protein|hnRNP A0 protein-coding 1348965 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is one of the most abundant core proteins of hnRNP complexes and it is localized to the nucleoplasm. This protein, along with other hnRNP proteins, is exported from the nucleus, probably bound to mRNA, and is immediately re-imported. Its M9 domain acts as both a nuclear localization and nuclear export signal. The encoded protein is involved in the packaging of pre-mRNA into hnRNP particles, transport of poly A+ mRNA from the nucleus to the cytoplasm, and may modulate splice site selection. It is also thought have a primary role in the formation of specific myometrial protein species in parturition. Multiple alternatively spliced transcript variants have been found for this gene but only two transcripts are fully described. These variants have multiple alternative transcription initiation sites and multiple polyA sites. [provided by RefSeq] 1580863 19913121,20628086,14667819,15231747,8521471,12226669,9731529,19349988,19339352,19282454,19004954,18846111,18562319,18391021,17950949,17898077,17884807,17558416,17353911,17287399,17229681,17110431,17081983,16990281,16916647,16603717,16600502,16097034,15782174,15703818,15703079,15671034,15635413,15592455,15525641,15489334,15342234,15208309,14729942,14703516,14690413,14645369,14633690,14611647,14559993,12945950,12927788,12799433,12665590,12612063,12477932,12458794,12419255,12212851,12060656,11991638,11893730,11884611,11825891,11790298,11779509,11546873,10843177,10323862,10212141,9925777,9891755,9164463,9144189,9115444,8889548,8883365,8473331,8288564,7769000,7730395,7505766,3023065,2836799,2760922,2176620,1733858,1691095,11313474,11003644,10772858,8663146,10383403,15861128,16169070,17289661,17643375,18029348,18809582,19430204,19667073,19710015,19715280,19737937,19808671,19926721,20010808,20133837,20639884,16449650,20872967 3178 AK298176,AK303303,AK308679,BC002355,BC004945,BC009600,BC012158,BC020442,BC033714,BC035253,BC052296,BC070315,BC071945,BC073162,NM_002136,AC078778,CH471054,X12671,AK129814,AK291113,NM_031157,BC074502,BC078165,BC103707,BC104236,BC104237,BC121133,BQ277208,BU501222,BX425482,CD705336,CF541085,CR590129,CR590800,CR590877,CR591763,CR593319,CR593400,CR595244,CR595283,CR596532,CR597068,CR597174,CR598050,CR598479,CR598845,CR598960,CR600314,CR600495,CR601024,CR601721,CR602906,CR603477,CR603757,CR604435,CR604458,CR605048,CR605418,CR605772,CR607779,CR607943,CR608892,CR609019,CR610363,CR610851,CR610890,CR611042,CR611088,CR611182,CR611606,CR611985,CR612285,CR612776,CR612903,CR613694,CR614407,CR615846,CR616623,CR616984,CR617360,CR617885,CR618106,CR618174,CR618488,CR618573,CR618772,CR619167,CR619770,CR620105,CR620193,CR620719,CR620988,CR621589,CR621950,CR622067,CR622095,CR622443,CR622713,CR624282,CR624350,CR624419,CR624664,CR625195,CR625490,CR625937,CR626448,CR626484,CR626498,CR626543,U00947,X04347,X06747,X79536 BAG60447,BAG64377,AAH02355,AAH04945,AAH09600,AAH12158,AAH33714,AAH52296,AAH70315,AAH71945,NP_112420,NP_002127,EAW96761,EAW96762,EAW96763,EAW96764,EAW96765,EAW96766,EAW96767,EAW96768,EAW96769,EAW96770,CAA31191,BAF83802,AAH74502,AAI03708,AAI04237,AAI04238,AAI21134,AAH73162,CAA27874,CAA29922,CAA56072,P09651,Q0VAC0,Q3MI39,Q6IPF2,Q9BSM5 Hs.546261,Hs.655424 HNRPA1|MGC102835|hnRNP A1|hnRNP-A1 helix-destabilizing protein|heterogeneous nuclear ribonucleoprotein A1|heterogeneous nuclear ribonucleoprotein A1B protein|heterogeneous nuclear ribonucleoprotein B2 protein|heterogeneous nuclear ribonucleoprotein core protein A1|hnRNP core protein A1|nuclear ribonucleoprotein particle A1 protein|single-strand DNA-binding protein UP1|single-strand RNA-binding protein protein-coding 1350329 HNRNPA1L1 heterogeneous nuclear ribonucleoprotein A1-like 1 12477932,1733858 729423 NG_009623,AL445193,BC121134 Hs.657333 HNRNPA1L|HNRNPA1L1|HNRPA1L pseudo 1605285 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1-like 2 14702039,12477932 144983 NM_001011724,NM_001011725,AL137058,CH471124,AK091082,AK094423,AK123081,AK123159,AK126454,BC082242,BC108266,BQ425201,BX477483,CD523364 NP_001011724,NP_001011725,CAI16736,EAW52040,EAW52041,EAW52042,AAI08267,Q32P51 Hs.447506 MGC102957 OTTHUMP00000018460|heterogeneous nuclear ribonucleoprotein A1-like 2|hnRNP A1-like 2|hnRNP core protein A1-like 2 protein-coding 1351717 HNRNPA1P1 heterogeneous nuclear ribonucleoprotein A1 pseudogene 1 645950 NG_008821,AL021918 HNRPA1P1|b34I8.2|hnRNPA1-Lp pseudo 4145402 HNRNPA1P10 heterogeneous nuclear ribonucleoprotein A1 pseudogene 10 15514164,2836799 664709 AC008543,CR590581,CR616053,CR617756,CR626585,NR_002944 Hs.534822 HNRPA1L-2 pseudo 4145503 HNRNPA1P11 heterogeneous nuclear ribonucleoprotein A1 pseudogene 11 100128044 AC011208,NG_022497 pseudo 4145433 HNRNPA1P12 heterogeneous nuclear ribonucleoprotein A1 pseudogene 12 644037 AC026410,NG_021856 pseudo 4145401 HNRNPA1P13 heterogeneous nuclear ribonucleoprotein A1 pseudogene 13 19240791 100131130 AC112178,NG_021898 pseudo 4145505 HNRNPA1P16 heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 12477932 440396 AL450226,NG_009621 pseudo 1345278 HNRNPA1P2 heterogeneous nuclear ribonucleoprotein A1 pseudogene 2 100131609 NG_008818,AL671511,AL845557,BX001039,BX119999,BX927180,CR751604,CR759773,CT009614 HNRPA1P2|dJ372B18.1 pseudo 1354354 HNRNPA1P3 heterogeneous nuclear ribonucleoprotein A1 pseudogene 3 170524 NG_001041,AL050348 HNRPA1P3|dJ447F3.1 pseudo 4891179 HNRNPA1P5 heterogeneous nuclear ribonucleoprotein A1 pseudogene 5 100506712 AC103753 pseudo 4737722 HNRNPA1P8 heterogeneous nuclear ribonucleoprotein A1 pseudogene 8 11181995 402562 AC004957,CH236949,CH471091,NG_006966 EAW76978 pseudo 1321287 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq] 1580863 20471030,15659580,16294306,18377426,17004321,12226669,9731529,2557628,18461365,18391021,18032920,17991743,17067748,16964243,16859514,16775011,16464861,16344560,15782174,15703215,15567486,15375589,15302935,15147968,14692562,14608468,14559993,12945950,12927788,12509629,12477932,12243756,12097415,12065097,12060656,11991638,11790298,11771750,11517223,11510693,10978504,10772824,10441480,10381337,9761751,9187682,8029005,7789969,7503735,3733753,1833625,1699755,1602151,15518812,20232340,20946641,15975576,17289661,17643375,18029348,19609729,19934309,20010808,20133837,20181627,20201926 3181 NM_002137,NM_031243,AC004520,AC010677,CH236948,CH471073,D28877,U09121,U09123,AK026373,AK129839,AK289429,BC000506,BC045724,BX537494,BX538099,BX641084,CR613897,DB244417,M29064,M29065 NP_002128,NP_112533,EAW93834,EAW93835,EAW93836,EAW93837,EAW93838,EAW93839,EAW93840,EAW93841,BAA06031,BAA06032,AAB60650,BAF82118,AAH00506,AAA60271,AAA36574,P22626 Hs.487774 DKFZp779B0244|FLJ22720|HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|RNPA2|SNRPB1 OTTHUMP00000202465|OTTHUMP00000202466|heterogeneous nuclear ribonucleoprotein B1|heterogeneous nuclear ribonucleoproteins A2/B1|hnRNP A2 / hnRNP B1|hnRNP A2/B1|nuclear ribonucleoprotein particle A2 protein protein-coding 1343696 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 625404,737633,1580863 14559993,18029348,8101480,17353931,12226669,17919748,16344560,15815621,15776420,15489334,12477932,11991638,11886857,8093642,20600361 625404,737633 220988 AK293125,AK303208,AK304687,AK316434,NM_194247,AC079305,CH471058,AF517524,AL832246,AY363225,BC032437,BC061894,BC064494,BC069022,BC080591,BC112027,BC113470,BX647217,CR603865,CR620336,DB093606 BAG56677,BAG64298,BAG65458,BAH14805,NP_919223,AAY14709,EAX11063,EAX11064,EAX11065,EAX11066,AAM51824,AAQ63629,AAH80591,AAI12028,AAI13471,P51991,Q66K53 Hs.516539 2610510D13Rik|D10S102|FBRNP|HNRPA3|MGC138232|MGC142030 OTTHUMP00000205092|OTTHUMP00000205139|OTTHUMP00000205141|OTTHUMP00000207979|heterogeneous nuclear ribonucleoprotein A3|hnRNP A3 protein-coding 1350276 HNRNPA3P1 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 This locus shares sequence similarity with heterogeneous nuclear ribonuclear proteins and represents an apparent transcribed pseudogene of the HNRPA3 gene, which maps to chromosome 2. [provided by RefSeq] 15776420,11886857,8101480,8093642,20562859,17643375 10151 NR_002726,AL355989,S63912 Hs.632956 D10S102|FBRNP|HNRPA3|HNRPA3P1 pseudo 1603170 HNRNPA3P2 heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 170526 NG_001042,AL050318 HNRPA3P|HNRPA3P2|dJ977B1.2 pseudo 730896 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 8999813,17353931,16964243,15782174,15489334,14722087,14704337,14702039,12692135,12477932,12388589,11937625,11790298,11313474,9373149,8895530,8125298,1717314,15324660,17289661,17643375 3182 NM_004499,AC136632,CH471165,AI199152,AK054600,AK097657,AK223425,BC001616,BC002625,BC004561,BC009359,BC015556,BC036708,CR590133,NM_031266,CR591328,CR602810,CR606019,CR607074,CR608100,CR609806,CR610440,CR610544,CR610666,CR616453,CR617383,CR619752,CR619932,CR619967,CR620427,CR623272,M65028,U76713,Z36844 NP_112556,NP_004490,EAW53842,EAW53843,EAW53844,EAW53845,BAG51397,BAC05134,BAD97145,AAH01616,AAH02625,AAH04561,AAH09359,AAH36708,AAA36575,AAC50956,Q53F64,Q99729 Hs.591731,Hs.715055 ABBP1|FLJ40338|HNRPAB ABBP-1|APOBEC1-binding protein 1|OTTHUMP00000223972|OTTHUMP00000223974|OTTHUMP00000223975|OTTHUMP00000223976|OTTHUMP00000223977|apobec-1 binding protein 1|apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1-binding protein 1|heterogeneous nuclear ribonucleoprotein A/B|hnRNP A/B|hnRNP type A/B protein protein-coding 1320619 HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq] 1580863 9731529,16189514,3110598,12226669,19405953,18508286,18494499,18471994,18296503,17159903,17081983,17071612,16960656,16807684,16217013,16010978,15936032,15767428,15731220,15687492,15635413,15494373,15489334,15302935,15082759,14559993,12509468,12482981,12477932,11991638,11877401,11790298,11162094,10629032,10409733,9516488,9373149,8473331,8264621,8125298,7821789,7567451,3457372,2587210,2557628,1385725,1380452,10772858,17353931,10964780,12564933,20601959,19759913,17289661,17643375,19447967,19628962,19740742,20164237,20189623,20473314 3183 AB209527,AK126950,AK223517,AK225032,AK292619,AK297482,AK298906,AK299923,AK302213,AK312338,AK312382,AL833432,BC003394,BC007052,BC008364,BC008423,BC066932,BC071943,BC089438,BC092433,BC108658,BX161480,BX247961,D28382,DB449514,M16342,M29063,Z70766,BX247992,CR590393,CR590869,CR593299,CR594564,CR595206,CR596303,CR596572,CR600200,CR600691,CR600838,CR604464,CR605657,CR607544,CR607820,CR608416,CR609418,CR609927,CR610764,CR612035,CR612229,CR613450,CR613941,CR614086,CR614454,CR614691,CR614884,CR614896,CR615305,CR615753,CR615906,CR617382,CR618250,CR618859,CR618906,CR619218,CR619785,CR620056,CR620247,CR620295,CR621771,CR622118,CR622198,CR622546,CR622649,CR622670,CR622833,CR622865,CR623739,CR624217,CR624349,CR624598,NM_001077442,NM_001077443,NM_031314,NM_004500,AL135744,CH471078,CQ834840,BC103758 CAH05635,BAD92764,BAG54408,BAD97237,BAF85308,BAG59903,BAG61014,BAG61758,BAG63570,BAG35259,BAG35300,AAH03394,AAH07052,AAH08364,AAH08423,AAH66932,AAH89438,AAH92433,AAI03759,AAI08659,CAD61934,BAA05748,AAA52680,AAA36576,P07910,Q569J8,CAD62300,CAD62326,NP_001070910,NP_001070911,NP_112604,NP_004491,EAW66392,EAW66393,EAW66394,EAW66395,EAW66396,EAW66397,EAW66398,EAW66399,EAW66400,ADR82775 Hs.508848 C1|C2|HNRNP|HNRPC|MGC104306|MGC105117|MGC117353|MGC131677|SNRPC heterogeneous nuclear ribonucleoproteins C1/C2|hnRNP C1/C2|nuclear ribonucleoprotein particle C1 protein|nuclear ribonucleoprotein particle C2 protein protein-coding 1603848 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C-like 1 16710414,12477932 343069 NM_001013631,AL022101,CH471130,BC002696,BC137258,BC171866,BX283835 NP_001013653,CAA17879,EAW71752,AAH02696,AAI37259,AAI71866,O60812,Q6PKD2 Hs.502617 HNRPCL1|RP5-845O24.4 heterogeneous nuclear ribonucleoprotein C-like 1|hnRNP C-like-1|hnRNP core protein C-like 1 protein-coding 733451 HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq] 1580863 20489206,20571027,8321232,3754960,12107167,12674497,15231747,16556936,16902409,1433497,10205060,12226669,19074427,19015635,18844578,18842733,18650551,18573886,18240226,18202450,17878526,17486099,17081983,17030625,16954375,16835382,16494882,16289864,16236267,16155006,16144962,16109718,16094384,15951444,15815621,15782174,15734733,15659558,15514034,15489334,15302935,15257295,14711832,14585195,14559993,12819195,12819194,12477932,12388589,12356764,11903055,11856759,11531333,17626845,11051545,10933876,10900464,10080887,10024518,9632798,9615222,9521873,9234743,8661052,8246982,7673195,16341674,19759913,12136087,19454010,20926381,17289661,17643375,18029348,19574297,20102719 3184 NM_031369,NM_002138,NM_031370,AC124016,AF026126,CH471057,AF039575,AK057836,AK292707,AK300149,AK303552,NM_001003810,BC002401,BC023977,BC026015,BF693760,BG180865,BG180941,BG325979,BM825808,BM832779,CR599364,CR621925,D55671,D55672,D55673,D55674,M94630,X03910,HB887011,HC944420 NP_001003810,NP_112737,NP_002129,NP_112738,AAY40913,AAC23474,AAC23475,AAC23476,EAX05872,EAX05873,EAX05874,EAX05875,EAX05876,EAX05877,EAX05878,EAX05879,EAX05880,EAX05881,EAX05882,EAX05883,AAB96683,BAF85396,BAG61935,BAG64576,AAH02401,AAH23977,AAH26015,BAA09522,BAA09523,BAA09524,BAA09525,AAA35781,CAA27544,Q12771,Q14103,ABM83166,ABM86366,CBF67662,CBU92536 Hs.480073 AUF1|AUF1A|HNRPD|P37|hnRNPD0 ARE-binding protein AUFI, type A|AU-rich element RNA-binding protein 1|OTTHUMP00000219401|OTTHUMP00000219403|OTTHUMP00000219469|heterogeneous nuclear ribonucleoprotein D0|hnRNP D0|rna binding protein p45auf1 protein-coding 1352411 HNRNPDP heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 8661052 8251 NG_000874,AL356003 AUF1B|AUF1P|HNRPDP pseudo 1349083 HNRNPF heterogeneous nuclear ribonucleoprotein F This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 7499401,9111328,12226669,17081983,16885237,16713569,16424007,16344560,16236267,15635413,15592455,15489334,15302935,15164054,14980514,14702039,12477932,11991638,11827452,11158309,11054566,11003644,10620016,10456323,9858532,7512260,1351868,12388589,20526337,16385451,16568080,17220478,18029348,18377426,19244236,19926108,20308064,20308327 3185 NM_004966,NM_001098205,NM_001098206,NM_001098207,NM_001098208,AL450326,AL512654,CH471160,AB062287,AI133166,AK001364,AK296696,AL542769,AW069399,BC001432,BC004254,BC015580,BC016736,BC106008,CR604764,CR608803,CR616917,CR976524,DA535143,NM_001098204,DA594075,DA679417,DB011453,DB049909,L28010 NP_001091674,NP_004957,NP_001091675,NP_001091676,NP_001091677,NP_001091678,CAI17066,EAW86595,EAW86596,EAW86597,EAW86598,EAW86599,BAB93470,BAG50896,BAG59290,AAH01432,AAH04254,AAH15580,AAH16736,AAI06009,AAC37584,P52597,Q8NI96,ABM86307,ABW03801 Hs.808,Hs.712955 HNRPF|MGC110997|OK/SW-cl.23|mcs94-1 HnRNP F protein|heterogeneous nuclear ribonucleoprotein F|nucleolin-like protein mcs94-1 protein-coding 1347066 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. It is very similar to the family member HNRPF. This gene is thought to be potentially involved in hereditary lymphedema type I phenotype. [provided by RefSeq] 1580863 7499401,9111328,12226669,18029348,19425502,19244236,17081983,16344560,16236267,16169070,15635413,15592455,15489334,15456888,15324660,15302935,15144186,14980514,14702039,14559993,12477932,12388589,11991638,11790298,11003644,10456323,9973292,9858532,7512260,1602151,1286667,20028692,16946708,17220478,17289661,17643375,18377426,19299493,19926721,20100605,20145135,20308327 3187 NM_005520,AC136604,CH471165,AK092273,AK124530,AK298193,AK307693,AK311021,BC001348,BX647205,CR456778,CR749414,DA603645,L22009 NP_005511,EAW53807,EAW53808,EAW53809,BAG54048,BAG60463,AAH01348,CAG33059,CAH18256,AAA91346,P31943,Q68DG4 Hs.604001 DKFZp686A15170|HNRPH|HNRPH1|hnRNPH OTTHUMP00000161513|OTTHUMP00000223421|OTTHUMP00000223422|heterogeneous nuclear ribonucleoprotein H|hnRNP H protein-coding 1605724 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 19913121,20628086,7499401,12226669,18029348,17081983,16171461,15772651,14980514,14729942,11571276,11054566,10456323,9110171,8425221,8380905,7959728,12477932,17643375,18377426,18809582,16344560 3188 NM_001032393,AL035422,CH471115,U78027,AK294144,AK298133,BC130343,BC130345,BM997703,BU167621,CR624721,NM_019597,U01923,NG_016327,AA758785,DA686966 NP_062543,NP_001027565,CAB55879,EAX02864,AAB64202,BAG57470,BAG60412,AAI30344,AAI30346,ADR82989,ADR83160,P55795 Hs.632828 FTP3|HNRPH'|HNRPH2|hnRNPH' FTP-3|heterogeneous nuclear ribonucleoprotein H'|heterogeneous nuclear ribonucleoprotein H-prime|heterogeneous nuclear ribonucleoprotein H2|hnRNP H'|hnRNP H2 protein-coding 1320680 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. 1580863 11790298,14702039,12477932,11152131,11004512,9373149,9110174,8619474,8125298,1286667,10858537,17353931,8999868,17081983,16344560,16169070,15635413,15592455,15489334,15975576,16385451,17643375,18377426 3189 NM_012207,NM_021644,AC016395,AF132360,CH471083,AF052131,AF132361,AF132362,AF132363,AF132364,AK091411,AK093710,AK223441,AK291547,AL117395,AW189387,BC004511,BC039824,CR606530,DA486117,AK295316 NP_036339,NP_067676,AAF68843,AAF68844,AAF68845,AAF68846,AAF68847,AAF68848,EAW54280,EAW54281,EAW54282,EAW54283,EAW54284,EAW54285,EAW54286,EAW54287,EAW54288,EAW54289,AAF68849,AAF68850,AAF68851,AAF68852,BAG52353,BAD97161,BAF84236,CAB55897,AAH04511,AAH39824,P31942,Q53F48,BAG58293 Hs.643472 2H9|FLJ34092|HNRPH3 heterogeneous nuclear ribonucleoprotein 2H9|heterogeneous nuclear ribonucleoprotein H3|hnRNP 2H9|hnRNP H3 protein-coding 733485 HNRNPK heterogeneous nuclear ribonucleoprotein K This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq] 8107114,12029088,16713569,20936779,18377426,12226669,16130169,18029348,1729596,19548310,19401687,19330019,19258514,19249676,19170760,19165527,19101556,19015635,18854308,18854243,18559600,18472002,18441016,17672864,17667925,17561226,17483488,17191129,17081983,16964243,16564677,16496041,16492668,16404425,16360036,16344560,16293596,16189514,16004877,15860232,15782174,15671036,15635413,15514164,15489334,15486205,15302935,15170860,15039586,14702039,14562022,14559993,12951515,12529443,12477932,12411317,12388589,12370808,12183465,12093748,12052863,11991638,11867641,11840567,11790298,11748221,11741984,11557983,11259409,11231586,10809782,10772858,10749975,10369774,10329716,9651361,9553145,9185665,8889548,8833161,8810341,8628302,8398153,8152927,8051112,7862126,7516469,18655026,12183049,10506147,19653139,17643375,19520842,19609950,19747914,19808671,19880579,20371611,20408130,19394292,20224598,20548952,20888333 3190 NM_002140,NM_031262,NM_031263,AL354733,CH471089,AB209562,AB451263,AB451390,AK096385,AK123117,AK291336,AK294067,AK300744,AK307962,AY911506,BC000355,BC013220,BC014980,BC025321,BU736090,CR456771,CR590155,CR592028,CR595399,CR608126,CR608448,CR621069,CR622928,CR625621,DA394419,DC407458,S74678,X72727 NP_002131,NP_112552,NP_112553,CAI16018,CAI16019,CAI16020,CAI16021,CAI16022,EAW62675,EAW62676,EAW62677,EAW62678,EAW62679,EAW62680,EAW62681,BAD92799,BAG70077,BAG70204,BAG53278,BAG53872,BAF84025,BAG57412,BAG62413,AAW84289,AAH00355,AAH14980,CAG33052,AAB20770,CAA51267,P61978,Q5EC54,Q5T6W1,Q5T6W2,Q5T6W5,Q6IBN1,ABM81653,ABM84828 Hs.522257 CSBP|FLJ41122|HNRPK|TUNP OTTHUMP00000021554|OTTHUMP00000021555|OTTHUMP00000021558|dC-stretch binding protein|heterogeneous nuclear ribonucleoprotein K|hnRNP K|transformation up-regulated nuclear protein|transformation upregulated nuclear protein protein-coding 737263 HNRNPL heterogeneous nuclear ribonucleoprotein L Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10809782,19946215,2687284,17353931,12226669,19464723,19332550,19298794,19124611,19061868,19017650,18202450,18073345,16024770,15790807,14702039,14528909,12869704,12576095,12477932,12447348,12130696,11809897,11280764,10772858,10737800,10441480,9880507,9563502,8871564,2576798,1286667,11118435,16169070,15889141,16236267,17289661,17643375,18669861,19912651,20122404 3191 NM_001005335,NM_001533,AC008982,CH471126,AB044547,AK092828,AK094966,AK097975,AK292115,AK298384,AK301062,AK313652,AV743120,AY927544,BC069184,BI256815,BI461733,BM997815,BQ334900,X16135 NP_001005335,NP_001524,EAW56826,EAW56827,EAW56828,BAB18649,BAF84804,BAG60620,BAG62670,BAG36406,AAH69184,CAA34261,P14866,Q6NTA2 Hs.644906 FLJ35509|HNRPL|P/OKcl.14|hnRNP-L heterogeneous nuclear ribonucleoprotein L|hnRNP L protein-coding 731710 HNRNPM heterogeneous nuclear ribonucleoprotein M This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Multiple alternatively spliced transcript variants are known for this gene but only two transcripts has been isolated. [provided by RefSeq] 1580863 17643375,18726360,19874820,20467437,18029348,9731529,11984006,12226669,8088785,18790094,17353931,17081983,16964243,16189514,15635413,15561718,15489334,15456888,15345747,15324660,15175327,15146197,14667819,14597422,12477932,11991638,11823437,11790298,11406629,8692693,8441656,7558047,20936779 4670 NM_005968,AC136469,CH471139,AB209733,AF061832,AK024911,AK293612,AK309659,AL713781,BC000138,BC008895,BC018916,BC019580,BC038753,BC045573,BC058893,BC064588,CN350489,CN350526,DB481659,L03532,L32611,X72018,NM_031203 NP_005959,NP_112480,EAW68919,EAW68920,EAW68921,EAW68922,EAW68923,BAD92970,AAC16002,BAG57075,CAD28541,AAH00138,AAH08895,AAH19580,AAH64588,AAA36192,AAL31359,CAA50897,P52272,Q59ES8,Q6P2D7,Q7KYM9,Q8TCM5 Hs.465808,Hs.666214 DKFZp547H118|HNRNPM4|HNRPM|HNRPM4|HTGR1|NAGR1|hnRNP M M4 protein|N-acetylglucosamine receptor 1|heterogeneous nuclear ribonucleoprotein M|heterogenous nuclear ribonucleoprotein M|heterogenous nuclear ribonucleoprotein M4|hnRNA-binding protein M4 protein-coding 736504 HNRNPR heterogeneous nuclear ribonucleoprotein R This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs and also contains a nuclear localization motif. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 9421497,17353931,12226669,17672918,16710414,16344560,15858414,15635413,15188402,12477932,12388589,12183049,11991638,11773003,11574476,16169070,17289661,17474147,17643375,19581295,19808671,19902070 10236 NM_001102399,NM_005826,NM_001102398,AL109936,CH471134,AF000364,AK098580,AK297382,AK297405,AK300029,AK311519,AK313142,BC001449,BC110389,BX538163,NM_001102397,BX640912,BX647784,DA773186,DQ351905 Q2L7G6,Q6MZS5,Q7Z334,ABM83094,ABM86288,NP_001095867,NP_001095869,NP_005817,NP_001095868,CAI19026,CAI19027,EAW95040,EAW95041,EAW95042,AAC39540,BAG59823,BAG59843,BAG61840,BAG35961,AAH01449,AAI10390,CAD98043,CAE45953,ABC73063,O43390,Q0VGD6 Hs.373763 FLJ25714|HNRPR|hnRNP R|hnRNP-R heterogeneous nuclear ribonucleoprotein R protein-coding 731482 HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq] 1580863 1628625,17220478,12226669,7509195,19351595,19165527,18710935,18618731,17081983,16924231,16916646,16710414,15782174,15711563,15592455,15489334,15364944,15121898,15096513,14702039,14559993,12855701,12840015,12686378,12477932,12388589,11991638,11909954,11850407,11850402,11813259,10862698,10671544,10490622,10348913,9563502,9405365,9353307,9105675,9079809,8943344,8670859,8068679,7993898,7831290,7753047,15778465,20382278,20554522,16568080,17289661,17643375,19029303,19617346,19808671,20150277,19578763 3192 NM_004501,BX323046,CH471148,AF068846,AF461014,AK095525,AK126868,AK130669,AK297119,AK307661,BC003367,BC003621,BC007950,NM_031844,BC015782,BC024767,BC034925,CR602578,CR608250,CR614336,CR624054,X65488,CH236957 NP_114032,NP_004492,CAI11055,CAI11056,CAI11057,CAI11058,EAW77126,EAW77127,AAC19382,AAP97707,BAG54384,BAG59625,AAH03367,AAH03621,AAH07950,AAH15782,AAH24767,AAH34925,CAA46472,Q00839,Q5RI17,Q5RI18,Q5RI19,Q7Z4Q5,Q96BA7,Q9UEL2,ABM84242,ABM87630,ACE87155,ACE86474 Hs.106212 HNRPU|SAF-A|U21.1|hnRNP U heterogeneous nuclear ribonucleoprotein U|hnRNP U protein|p120 nuclear protein|pp120|scaffold attachment factor A|transporter protein; system n1 na+ and h+-coupled glutamine transporter protein-coding 1316659 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U-like 1 This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus E1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by E1B-55kDa in adenovirus-infected cells. Two transcript variants encoding different isoforms have been found for this gene. Additional variants have also been found, but their full-length natures have not been determined. [provided by RefSeq] 19913121,20628086,9733834,15907477,17353931,12226669,19166692,19056482,18599554,18480432,17121608,17081983,16690874,16169070,15489334,15302935,15242333,15231748,15144186,14702039,12489984,12477932,11513728,11073998,10668806,9373149,8889548,8125298,20211142,17643375,19710015 11100 BC009988,BC014232,BC027713,BM976139,CR594584,CR621310,DC318049,DC366321,DC403921,NM_007040,AC011462,AC011510,CH471126,AJ007509,AK001229,AK021455,AK022863,AK023006,AK127057,AK225850,AK290729,AK291315,AK291762,AK297127,AK308078,AK308156,AL050146,BC000860,BC002564,BC004242,CS674266,CS805739,NM_144732,HC919736,HC919947 AAH09988,AAH14232,AAH27713,Q9BTB7,Q9BUJ2,ACE87139,ACE87174,ACE86458,ACE86493,NP_008971,EAW57024,EAW57025,EAW57026,EAW57027,EAW57028,EAW57029,CAA07548,BAG50872,BAB13831,BAG51129,BAC86806,BAF83418,BAF84004,BAF84451,BAH12504,CAB43291,AAH02564,AAH04242,CAP12293,CAP40174,NP_653333,CBN73465,CBN73470 Hs.155218,Hs.718642 E1B-AP5|E1BAP5|FLJ12944|HNRPUL1 E1B 55kDa associated protein 5|E1B-55 kDa-associated protein 5|E1B-55kDa-associated protein 5|adenovirus early region 1B-associated protein 5|heterogeneous nuclear ribonucleoprotein U-like protein 1 protein-coding 1606938 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U-like 2 17081983,16964243,14702039,12477932,8068679,17643375 221092 NM_001079559,AP001160,AP001458,CH471076,AL834470,BC029105,BC032369,DQ470474 NP_001073027,EAW74084,ABF00125,Q1KMD3,AAI67844 Hs.714969 DKFZp762N1910|HNRPUL2 SAF-A2|heterogeneous nuclear ribonucleoprotein U-like protein 2|scaffold-attachment factor A2 protein-coding 1347288 HNRPA1L3 heterogeneous nuclear ribonucleoprotein A1-like 3 2836799 388275 NG_005529,AC021224 HNRPA1L3 pseudo 1602034 HNRPA1P4 heterogeneous nuclear ribonucleoprotein A1 pseudogene 4 389674 NG_005789,AC022260,AC060765,AC069359 HNRPA1P4 pseudo 1343036 HNRPCP heterogeneous nuclear ribonucleoprotein C pseudogene 319133 NG_002511,AL133312,AL135752 pseudo 1320569 HNRPDL heterogeneous nuclear ribonucleoprotein D-like This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Two alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein encoded by this gene is similar to its family member HNRPD. [provided by RefSeq] 9538234,17353931,10072754,18381662,18095154,17592041,15302935,15190078,14702039,12477932,11705999,9847074,9524220,19019082,16011250,17643375 9987 X75683,AY453824,BC007392,BC011714,BC018961,BC071944,CR407623,CR590310,CR593853,CR594812,CR598033,CR600214,CR604391,CR605042,CR606578,CR607924,CR611909,CR614067,CR614785,CR615355,CR615922,CR616930,D89092,D89678,NR_003249,AB017018,AC110787,AC124016,CH471057,AB017019,AB066484,AK057480,AK294683,AK300122,NM_031372,HB886865,HC944274 BAA22860,O14979,ABM83797,ABM87118,AAR17782,AAH07392,AAH11714,AAH71944,CAG28551,BAA24361,BAG61914,NP_112740,BAA75239,BAA75240,AAY40914,EAX05885,EAX05886,EAX05887,EAX05888,EAX05889,EAX05890,EAX05891,BAA75241,BAB62188,BAG57844,CBF67589,CBU92463 Hs.527105 HNRNP|JKTBP|JKTBP2|laAUF1 A+U-rich element RNA binding factor|AU-rich element RNA-binding factor|JKT41-binding protein|OTTHUMP00000219470|heterogeneous nuclear ribonucleoprotein D-like|hnRNP D-like|hnRNP DL|protein laAUF1 protein-coding 1353271 HNRPLL heterogeneous nuclear ribonucleoprotein L-like HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM] 1580863 18719244,18669861,16713569,16344560,15635413,15489334,15256261,12477932,8889548,20505149,14667819 92906 AY236962,NM_001142650,AC011247,AF461716,AF461722,CH471053,AK000155,AK291462,AK292259,AL512692,NM_138394,AY236963,BC008217,BC017480,BM972334,CR600541,DA760455 NP_612403,NP_001136122,AAY24302,AAN76189,AAN76190,EAX00368,EAX00369,EAX00370,EAX00371,EAX00372,BAF84151,BAF84948,CAH56358,AAQ20083,AAQ20084,AAH08217,AAH17480,Q5JB52,Q8WVV9 Hs.445497 SRRF|hnRNPLL OTTHUMP00000128260|OTTHUMP00000203881|heterogeneous nuclear ribonucleoprotein L-like|stromal RNA regulating factor|stromal RNA-regulating factor protein-coding 1352653 HNRPUP heterogeneous nuclear ribonucleoprotein U pseudogene 319134 NG_002512,AL583809 pseudo 1348517 HOAC hypoacusis 2 (autosomal recessive) 2791656 3193 1354218 HOMER1 homer homolog 1 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq] 633024,633023,1580863 16979624,19648775,20333726,20379614,9808458,9808459,19376111,19165527,19086053,18193045,16314758,16189514,15745950,15691715,15673434,15489334,15033484,14660561,14528310,14505576,12887973,12815733,12810060,12477932,12223488,12107410,11418862,10851183,10833436,10464340,10433269,9373149,9069287,8889549,8125298,11679592,21172614,20598711,20673876 633024,633023 9456 AC020898,AC093270,CH471084,CS301484,AA029302,AF093262,AK223471,AK312481,AY189939,AY189940,AY189941,BC015502,BC047438,BT009846,BU933636,CA396459,CB052446,Y17829,NM_004272 NP_004263,EAW95835,EAW95836,CAK31441,AAC71026,BAD97191,BAG35385,AAO38999,AAO39000,AAO39001,AAH15502,AAH47438,AAP88848,CAA76877,Q53F18,Q5U5K4,Q86YM6,Q86YM7,ABM82204,ABM85392 Hs.591761 HOMER|HOMER1A|HOMER1B|HOMER1C|SYN47|Ves-1 OTTHUMP00000222577|homer protein homolog 1|homer, neuronal immediate early gene, 1|homer-1 protein-coding 1354175 HOMER2 homer homolog 2 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein may be involved in cell growth. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 633024,633023 18387811,9808458,19086053,18218901,16314758,15944415,15489334,12815733,12676529,12477932,12378015,10653696,9808459,12223488,9069287,14528310,19914345,20333726,20531441 633024,633023 9455 NM_199332,NM_004839,NM_199331,AC022558,AC044907,CH471188,AF081530,AF093263,AF093264,AK292772,AY062316,BC012109,Y19025,Y19026,Y19027,Y19028,NM_199330 Q9NSB8,NP_955362,NP_955364,NP_004830,NP_955363,EAW62435,EAW62436,AAD13748,AAC71027,AAC71028,BAF85461,AAL65744,AAH12109,CAB75537,CAB75538,CAB75539,ABM86452,CAB75540,ABM83250 Hs.578443 ACPD|CPD|HOMER-2|HOMER2A|HOMER2B|Vesl-2 cupidin|homer homolog 3|homer protein homolog 2|homer, neuronal immediate early gene, 2 protein-coding 1349435 HOMER2P1 homer homolog 2 (Drosophila) pseudogene 1 317768 1352201 HOMER2P2 homer homolog 2 (Drosophila) pseudogene 2 317769 731655 HOMER3 homer homolog 3 (Drosophila) This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants. 633024 16098226,19345194,10653696,9808458,18387811,18218901,16979624,16189514,15489334,15146197,15057824,14645007,12815733,12477932,12223488,9808459,9069287,14505576,20693425 633024 9454 Y18894,Y18895,Y18896,NM_001145721,NM_001145722,NR_027297,NM_001145724,AC002985,CH471106,AF093265,AK124450,AK313995,AL529052,AW606967,BC012113,BM915739,BT019464,CN284196,CR601631,CR604554,CR604813,CR617622,CR618184,CR626845,Y17573,NM_004838 CAB75543,CAB75544,CAB75545,Q5U0L9,Q9NSC1,Q9NSC5,ABM83483,ABM86697,NP_004829,NP_001139193,NP_001139194,NP_001139196,AAB81545,EAW84762,EAW84763,EAW84764,EAW84765,AAC71029,BAG54040,BAG36707,AAH12113,AAV38271,CAB75536 Hs.720208 HOMER-3|VESL3 Homer, neuronal immediate early gene, 3|homer protein homolog 3|homer, neuronal immediate early gene, 3 protein-coding 735425 HOMEZ homeobox and leucine zipper encoding 15489334,15302935,14702039,12925734,12477932,11948623,10718198 57594 NM_020834,AL049829,CH471078,AB037864,AF463523,AK296927,BC045733,BC130392,DC398645 NP_065885,EAW66175,EAW66176,EAW66177,BAA92681,AAN76991,BAG59479,AAI30393,Q8IX15 Hs.632332 KIAA1443 homeobox and leucine zipper protein Homez|homeodomain leucine zipper-containing factor|homeodomain-leucine zipper protein homez protein-coding 1320626 HOOK1 hook homolog 1 (Drosophila) This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 15471887,18799622,16964243,16710414,16189514,15882442,15823567,15489334,14702039,12477932,12075009,11238449,9927460,17353931,20379614 51361 AC113175,AL035416,CH471059,AA576610,AF044923,AK027250,AK097735,AK098561,AK292314,AK301768,BC011621,BC107857,NM_015888 NP_056972,CAI22778,CAI22779,EAX06615,EAX06616,AAC09298,BAF85003,BAG63227,AAH11621,AAI07858,Q32Q39,Q9UJC3,ABM82883,ABM86069 Hs.378836 HK1|MGC10642 h-hook1|hHK1|protein Hook homolog 1 protein-coding 1320916 HOOK2 hook homolog 2 (Drosophila) Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM] 16189514,9927460,17540036,15882442,15489334,12477932,11238449,18799622,19793914 29911 NM_001100176,NM_013312,AC018761,CH471106,AF044924,AK129729,BC012443,CR590832,DB474423 NP_001093646,NP_037444,EAW84305,EAW84306,AAC09299,BAC85229,AAH12443,Q6ZP90,Q96ED9,ABM82265,ABM84286,ABM85447,ABM87678 Hs.30792 FLJ26218|HK2 h-hook2|hHK2|protein Hook homolog 2 protein-coding 1346925 HOOK3 hook homolog 3 (Drosophila) Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM] 1580863 11238449,17237231,17639057,16964243,15882442,15489334,15075236,14702039,12950921,12477932,8889548,9927460,18799622,20152126,18029348 84376 NM_032410,AC009634,AC110275,CH471080,AK055620,AK090540,AK309224,BC012030,BC013679,BC023658,BC048304,BC056146,BM716064 NP_115786,EAW63196,EAW63197,EAW63198,EAW63199,EAW63200,BAC03473,AAH48304,AAH56146,Q86VS8 Hs.162852 FLJ31058|HK3 h-hook3|hHK3|protein Hook homolog 3 protein-coding 1603377 HOPX HOP homeobox The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq] 20226564,17576768,17192267,19173292,18507846,18234960,18052042,17498662,16939210,16381901,16344560,15489336,15489334,15457851,15381369,15307938,15213722,14702039,14522464,14516659,12975471,12759545,12573257,12477932,11076863,20211142,21061432,20228841,12297045 84525 NM_032495,NM_139211,NM_001145459,NM_001145460,AC108215,CH471057,AA504137,AB019573,AB059408,AB059409,AB059410,AF454763,AF492675,AF492676,NM_139212,AF492677,AF492678,AF492679,AF492680,AF492681,AK096707,AK123318,AK289707,AW955211,BC014225,CB996541,CK002567,CR600537,CR611831,CR626269,DA512059,DB180848,EB386856 NP_631958,NP_115884,NP_631957,NP_001138931,NP_001138932,EAX05503,EAX05505,EAX05511,BAB40926,BAB40927,BAB40928,AAL56613,AAM46827,AAM46828,AAM46829,AAM46830,AAM46831,AAM46832,AAM46833,BAF82396,AAH14225,Q9BPY8,CAL38525,ABM83119,ABW03470 Hs.619396 CAMEO|HOD|HOP|LAGY|MGC20820|NECC1|OB1|SMAP31|TOTO OTTHUMP00000219000|OTTHUMP00000219002|OTTHUMP00000219003|OTTHUMP00000219004|OTTHUMP00000219005|OTTHUMP00000221050|homeodomain-only protein|lung cancer-associated Y protein|not expressed in choriocarcinoma clone 1|not expressed in choriocarcinoma protein 1|odd homeobox 1 protein|odd homeobox protein 1 protein-coding 1346134 HORMAD1 HORMA domain containing 1 737633 16331256,18089785,11256614,16381901,15999985,15567723,15489336,14702039,12477932,11230166,11076863 737633 84072 HC044603,NM_032132,AL356292,CH471121,AK097390,AK098633,AL136755,AY626344,BC033014,BC047406,CR533505,AA991355,BU570274,NM_001199829 CBH30631,NP_115508,CAI13652,CAI13653,CAI13654,CAI13655,CAI13656,EAW53520,EAW53521,EAW53522,EAW53523,EAW53524,EAW53525,BAG53463,CAB66689,AAT45740,AAH33014,AAH47406,CAG38536,Q86X24,CAL37439,CAL37857,NP_001186758 Hs.298312 CT46|DKFZp434A1315|NOHMA|RP11-363I22.1 HORMA domain containing protein|HORMA domain-containing protein 1|cancer/testis antigen 46|newborn ovary HORMA protein protein-coding 1348799 HORMAD2 HORMA domain containing 2 737633 15461802,12477932,19915574,20473688 737633 150280 NM_152510,AC002378,AC003071,CH471095,AK098703,BC030013,CR456341,CS568998 NP_689723,EAW59859,EAW59860,BAC05388,AAH30013,CAG30227,Q8N7B1,CAK54483,CAK54782,CAN59692 Hs.120391 MGC26710 HORMA domain-containing protein 2 protein-coding 2293809 HOTAIR hox transcript antisense RNA (non-protein coding) Long noncoding RNAs (ncRNAs), such as HOTAIR, have roles in gene regulation, especially in epigenetic control of chromatin (Rinn et al., 2007 [PubMed 17604720]).[supplied by OMIM] 20616235,17604720,17604716,16344560,20393566 100124700 NR_003716,AC012531,AK123741,BF109906,DA567507,DQ926657 Hs.197076 FLJ41747|HOXAS|NCRNA00072 miscrna 737614 HOXA1 homeobox A1 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq] 1358730,1580863 20678259,7622051,19086053,19018953,19018235,18412118,18276758,17967182,17875913,17213808,17171652,17167333,17131398,16597639,16528738,16373333,16344560,16189514,16168961,16155570,15489334,14960295,12908836,12853948,12690205,12482855,12477932,12349873,12210285,11857506,11840501,11091361,11070089,10529419,9582372,9463349,8646877,7488013,1973146,19336002,18482256,19598235,20227628 1358730 3198 NM_005522,NM_153620,NG_011813,AC004079,CH236948,CH471073,AK308067,AK313514,BC032547,DB246535,S79869,S79910,U10421,U37431,S79871,FB571437,FB571439 NP_005513,NP_705873,AAS00374,EAL24228,EAL24229,EAW93861,EAW93862,BAG36294,AAH32547,AAB35425,AAB35423,AAA86954,AAC50248,AAC50249,AAC50250,P49639,ABM81810,ABM84964,AAB35424,CAR95136,CAR95137 Hs.67397 BSAS|HOX1|HOX1F|MGC45232 HOX A1 homeodomain protein|Hox 1.6-like protein|homeo box A1|homeo box a1|homeobox 1F|homeobox protein Hox-1F|homeobox protein Hox-A1|lab-like protein protein-coding 1320375 HOXA10 homeobox A10 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 19017365,20151152,8972230,7700356,19453261,19084499,19022774,18832725,18829447,18456676,18339267,18190961,17709569,17688409,17482600,17439948,17173899,16861351,16647375,16597639,16424022,16344560,16210632,16098858,15905361,15749785,15731295,15674412,15489334,15236964,15213244,14973489,14966272,14960020,14607569,14512427,12853948,12764384,12519859,12493691,12482956,12477932,12215336,12145285,11875117,11857506,11830466,11752456,11585930,11443215,11290589,10766757,10374871,9525980,9408238,9343407,8646877,7906121,7556525,7527557,2574852,2573064,1973146,1676505,1358459,18692240,18930214,19131054,19727442,19736237,19778996,19849868,19854516,19938081,19956865,20009888,20036708,20457539,20478621,20400074,20211142,17828513,20463357 3206 NM_018951,AC004080,AF040714,CH236948,CH471073,X58430,AK312450,AL710880,AV687088,BC007600,BC013971,BC071843,BC094807,BF196481,BQ215499,BX439708,CR606804,DB267919,M30599,S69027,S69029,NM_153715 NP_714926,NP_061824,AAB96917,EAW93883,EAW93884,EAW93885,EAW93886,CAB86198,BAG35357,AAH07600,AAH13971,AAH71843,AAH94807,AAA36006,AAD14030,AAD14031,P31260,Q504T1,Q5I0Y5,ABM82832,ABM86018,ABM87835 Hs.110637,Hs.659350 HOX1|HOX1.8|HOX1H|MGC12859|PL homeo box A10|homeo box a10|homeobox protein 1H|homeobox protein HOXA10|homeobox protein Hox-1.8|homeobox protein Hox-1H|homeobox protein Hox-A10 protein-coding 735680 HOXA11 homeobox A11 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq] 1580863 9745033,19453261,19255789,18274672,15731295,15674412,15489334,15467538,15167850,14973489,12853948,12690205,12477932,12060755,12050232,11937757,11857506,11841440,11830496,11585930,11396649,11299969,11101832,10084606,8646877,8570656,2574852,1973146,1358459,15260975,15617687,16087734,19609949,19727442,19938081,20457539,20695189 3207 NM_005523,NG_012079,AC004080,AF039307,AF071164,CH236948,CH471073,AK313921,AL551705,BC033706,BC040948,CR611111,CR612696 NP_005514,AAB94761,AAC80455,EAL24220,EAW93887,EAW93888,BAG36642,AAH40948,P31270,ABZ92009 Hs.249171 HOX1|HOX1I homeo box 1I|homeobox a2|homeobox protein HOXA11|homeobox protein Hox-1I|homeobox protein Hox-A11 protein-coding 2300356 HOXA11AS HOXA11 antisense RNA (non-protein coding) 16344560,12690205,12477932,12050232,9745033 221883 NR_002795,AC004080,AF071165,AF071166,AF071167,AF071168,AF071169,BC025338,BI753022,DA421792 Hs.587427 HOXA11-AS|HOXA11AS|HOXA11S|NCRNA00076 miscrna 1346914 HOXA13 homeobox A13 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq] 1599526,1580863 9020844,19491265,19453261,18483557,18245445,17935235,17274802,15617687,14675924,12853948,12690205,12477932,12414828,12112533,12073020,11968094,11857506,11830496,11688568,11206481,10839976,10835276,10656931,10569982,9847074,8646877,1973146,1358459,2574852,16087734,19145497,19423998,19591980 1599526 3209 BC075791,NM_000522,NG_008181,AC004080,CH236948,CH471073,U82827,AL597666,BC016712 AAH75791,P31271,Q6DI00,NP_000513,EAL24218,EAW93890,AAC50993 Hs.592172 HOX1|HOX1J homeo box 1J|homeo box A13|homeo box a13|homeobox protein HOXA13|homeobox protein Hox-1J|homeobox protein Hox-A13|transcription factor HOXA13 protein-coding 1353431 HOXA2 homeobox A2 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq] 1580863 11857506,8646877,1358459,19453261,18394579,14702039,12853948,12690205,18029348,20542577,12477932,15617687,19938081 3199 NM_006735,NG_012078,AC004079,CH236948,CH471073,AI581335,AI796505,AK096742,AL079274,AW079894,AW292406,BC130571,BC136500,BE465040,BF509655 NP_006726,AAS00375,EAL24227,EAW93864,BAG53357,AAI30572,AAI36501,O43364 Hs.445239,Hs.592177 HOX1K homeo box a2|homeobox protein Hox-1K|homeobox protein Hox-A2 protein-coding 1344896 HOXA3 homeobox A3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 19453261,17972163,16582099,15489334,14702039,12853948,12690205,12477932,11857506,11823429,9894676,9847074,9520319,8889548,8646877,1973146,1358459,15782160,18029348,20211142 3200 BM984673,NM_153631,NM_030661,AC004079,AC004080,AC010990,CH236948,CH471073,AK056567,AK094200,BC015180 AAH15180,O43365,ABM81898,ABM85073,NP_705895,NP_109377,AAS00376,EAL24225,EAL24226,EAW93865,EAW93866,BAG51750,BAG52842 Hs.659337 HOX1|HOX1E|MGC10155 Hox-1.5-like protein|homeo box 1E|homeo box A3|homeo box a3|homeobox protein Hox-1E|homeobox protein Hox-A3 protein-coding 736245 HOXA4 homeobox A4 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq] 1580863 9457903,8688592,9202392,8646877,7654365,2576652,2571574,1981366,1973146,1358459,1675427,19453261,18410541,17003840,16688227,12853948,12520199,12477932,12031912,11857506,9847074,9665340,19563517,19723874 3201 NM_002141,AC004080,CH236948,CH471073,M28199,AI277552,AW445008,BC126994,M74297 NP_002132,EAL24224,EAW93872,AAA53290,AAI26995,AAA58664,Q00056,AAI60036 Hs.533357,Hs.721126 HOX1|HOX1D Dfd-like protein|Hox-1.4-like protein|homeo box A4|homeo box a4|homeobox protein Hox-1.4|homeobox protein Hox-1D|homeobox protein Hox-A4 protein-coding 734224 HOXA5 homeobox A5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq] 1580863 20846263,20211142,19453261,18538349,17957028,17804711,17785556,17167183,16756717,16379594,15757903,15684390,15545268,15489334,14701762,12853948,12690205,12642491,12477932,12163409,11857506,11238043,10879542,10875927,10737800,10397719,9457903,8657138,8646877,8570656,2576652,2568583,1973146,1358459,15617687,19554572,19938081 3202 NM_019102,AC004080,CH236948,CH471073,M26679,AW802886,BC013682,BI822268,BT009744,CR542256,CR542277 NP_061975,EAL24223,EAW93873,AAA58663,AAH13682,AAP88746,CAG47052,CAG47073,P20719,Q6FG31,ABM92210,ABM84687 Hs.655218 HOX1|HOX1.3|HOX1C|MGC9376 homeo box 1C|homeo box A5|homeo box a5|homeobox protein HOXA5|homeobox protein Hox-1C|homeobox protein Hox-A5 protein-coding 1352106 HOXA6 homeobox A6 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq] 1580863 17207965,19453261,19157684,15489334,12853948,12690205,12477932,11857506,9247466,8646877,2576652,1973146,1358459 3203 NM_024014,AC004080,CH236948,CH471073,BC069497,BC104915,BC104917,BG749730 ADQ32869,NP_076919,EAL24222,EAW93874,EAW93875,AAH69497,AAI04916,AAI04918,P31267 Hs.679517 HOX1|HOX1.2|HOX1B homeo box 1B|homeo box A6|homeo box a6|homeobox protein HOXA6|homeobox protein Hox-1B|homeobox protein Hox-A6 protein-coding 1343560 HOXA7 homeobox A7 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq] 1580863 20336696,12853948,9804983,11435435,19453261,17959889,16597639,14704364,14702039,14562113,12477932,11857506,10911612,10737800,9847074,9539109,9405651,8646877,7654365,2576652,2574852,2568891,1973146,1358459,12690205,20634891,14973489,17972163,18973687,20540809 3204 NM_006896,AC004080,AF032095,CH236948,CH471073,U92543,X84803,AF026397,AW793597,BC061916 NP_008827,AAD01939,EAL24221,EAW93877,AAD00727,CAA59270,AAB94604,P31268,AAI40402,AAI48693 Hs.660918 ANTP|HOX1|HOX1.1|HOX1A homeo box A7|homeobox protein HOX-1A|homeobox protein Hox 1.1|homeobox protein Hox-A7 protein-coding 1320652 HOXA9 homeobox A9 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. [provided by RefSeq] 1580863 20141430,20565746,16189514,8563754,19453261,19346496,19157684,19056693,18668134,18474618,18410541,18337761,18068911,17885552,17761289,17623056,17586512,17452460,17327400,17178874,16803519,16630659,16381901,16105979,15960975,15681849,15657436,15489336,15489334,15479723,15454493,15254242,15161102,15160920,14764452,14738146,14701735,14562113,14561764,12923056,12853948,12649177,12477932,12138901,12112533,12082612,11857506,11830496,11551904,11076863,11042172,10082572,9880515,9657735,9628584,9058712,8646877,8563753,2574852,1973146,1358459,9343407,12393433,15960974,11256614,19060904,19620287,19696924,19938081,20068170,20379614,20389018 3205 NM_152739,AC004080,AF010258,CH236948,CH471073,U81511,AW612618,BC006537,BC010023,BG258601,BT006990,CA442923,U41813,U82759 NP_689952,AAD08713,EAW93880,AAC23704,AAC23705,AAH06537,AAH10023,AAP35636,AAC50364,AAB40867,O75805,O75806,P31269,CAL38404,ABM86962,ABM83674 Hs.716765,Hs.659350 ABD-B|HOX1|HOX1.7|HOX1G|MGC1934 homeo box A9|homeo box a9|homeobox protein HOXA9|homeobox protein Hox-1G|homeobox protein Hox-A9|homeodomain protein HOXA9 protein-coding 1348178 HOXA@ homeo box A cluster 1973146,1358459 3197 1321119 HOXB1 homeobox B1 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq] 1580863 20678259,11091361,11069920,10671062,10373562,10331985,9482740,8646877,8570656,7913891,2576652,2574852,1973146,1358459,8890171,10052460,17713478,17167333,12487626,12477932,11972344,11857506,11840501,11278854,20371328,11585930,123121,19477923,20195514 3211 NM_002144,AC103702,AF287350,CH471109,BC096191,BC096192,BC096193,BC099633,X16666 NP_002135,AAG31762,EAW94746,AAH96191,AAH96192,AAH96193,AAH99633,CAA34656,P14653,Q4VB01,Q4VB03,Q9HB13 Hs.99992 HOX2|HOX2I|Hox-2.9|MGC116843|MGC116844|MGC116845 homeo box 2I|homeo box B1|homeo box b1|homeobox protein Hox-2I|homeobox protein Hox-B1 protein-coding 1319269 HOXB13 homeobox B13 This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq] 2314726,2314729,2314730,2314731,2314727,2314728,1580863 9665387,18794098,18499701,18163187,17975144,17972163,17942676,17453342,17145863,17008703,16792730,16609019,16609001,15928669,15756448,15604291,15489334,15126340,12761847,12477932,11857506,9373149,9343407,8756292,8125298,20504375,19917249,20018680 2314726,2314729,2314730,2314731,2314727,2314728 10481 NM_006361,AC091179,CH471109,AK225234,AK313266,AY937237,BC007092,BC070233,BT007410,U57052,U81599 NP_006352,EAW94714,BAG36075,AAY17396,AAH07092,AAH70233,AAP36078,AAC50664,AAB39863,Q4KR72,Q92826,ABM84443,ABM87495 Hs.66731,Hs.727772 PSGD homeo box B13|homeo box b13|homeobox protein Hox-B13 protein-coding 1320419 HOXB2 homeobox B2 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq] 1580863 1871139,7876223,17805056,16458891,15867264,15489334,12802276,12477932,11857506,11835749,11585930,11238043,10595394,10230789,9556594,7913891,2901346,2576652,2574852,2570724,1973146,1358459,20628624,16079151,19477923,20195514 3212 BC074806,M73999,X14571,X16665,NM_002145,AC103702,CH471109,U12590,X16176,X78978,AA450237,BC038968,BC074805 AAH74806,AAB00778,CAA32709,CAA34655,P14652,Q14548,ABZ92010,NP_002136,EAW94743,EAW94744,EAW94745,AAA21150,CAA34298,CAA55581,AAH74805 Hs.514289 HOX2|HOX2H|Hox-2.8|K8 K8 home protein|homeo box 2H|homeo box B2|homeobox protein Hox-2.8|homeobox protein Hox-2H|homeobox protein Hox-B2 protein-coding 1321880 HOXB3 homeobox B3 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq] 1580863 17972163,16344560,15674412,15146197,15085154,14966272,14702039,11971819,11857506,9774637,9556594,9052833,8920965,8646877,7913891,2576652,2574852,2570724,1973146,1358459,8890171,11585930,19477923,19854132 3213 NM_002146,AC103702,AF016029,AF287967,CH471109,X16175,AI633956,AK027609,AK291182,AK299226,AK299265,AK309721,AK315102,AK316245,CN358294,DA735249,U59298,X16667 NP_002137,AAG31555,EAW94739,EAW94740,EAW94741,CAA34297,BAG51359,BAF83871,BAH12974,BAH12984,BAG37563,BAH14616,AAD10852,CAA34657,P14651,AAI72242,AAI72550 Hs.654560 HOX2|HOX2G|Hox-2.7 OTTHUMP00000217027|OTTHUMP00000217028|OTTHUMP00000217029|OTTHUMP00000217030|OTTHUMP00000217031|OTTHUMP00000217032|OTTHUMP00000217034|homeo box 2G|homeo box B3|homeobox protein Hox-2.7|homeobox protein Hox-2G|homeobox protein Hox-B3 protein-coding 1344417 HOXB4 homeobox B4 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq] 1580863 18617691,18511880,17962697,17784829,17510218,15489334,14966272,14578882,12791656,12761847,12701098,12477932,12406897,12130496,11984874,11585930,11250656,11085749,10904875,8889548,8688592,2576652,2574852,2570724,1981366,1973146,1358459,1351762,20599537,15617687,19878058 3214 NM_024015,AC103702,AF287967,AF307160,CH471109,X16174,AL137449,BC049204,BM972328,BU161354,CR604653 NP_076920,AAG31554,AAG45052,EAW94742,CAA34296,CAB70742,AAH49204,P17483 Hs.664706 HOX-2.6|HOX2|HOX2F homeo box 2F|homeo box B4|homeo box b4|homeobox protein Hox-2.6|homeobox protein Hox-2F|homeobox protein Hox-B4 protein-coding 1342680 HOXB5 homeobox B5 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq] 1580863 8101633,6091895,4075393,3453105,3186746,2878432,2576652,2574852,2570724,1981366,1973146,1358459,1355360,3000607,17623056,15489334,14632303,12950074,12897140,12477932,11857506,11839528,8930688,8688592,8646877 3215 NM_002147,AC103702,AF287967,CH471109,K02572,AK314964,BC004454,BC008940,BC117247,BE621135,BQ001097,BQ073272,M86726,M92299,X03794 NP_002138,AAG31553,EAW94737,AAA52681,BAG37466,AAI17248,AAB59430,AAA52682,CAA27420,P09067 Hs.654456 HHO.C10|HOX2|HOX2A|HU-1|Hox2.1 homeo box 2A|homeo box B5|homeo box b5|homeobox protein HHO.C10|homeobox protein Hox-2A|homeobox protein Hox-B5|homeobox protein Hu-1 protein-coding 1602502 HOXB6 homeobox B6 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq] 17003840,16189514,15489334,13678718,12477932,12094253,11857506,11585930,11238043,10906782,10833444,10327653,9922051,9126347,9108390,8696343,8646877,7906121,7729685,6091895,2888083,2576652,2574852,2573064,2570724,1981366,1973146,1672751,1358998,1358459,15269212,19477923,17207965 3216 NM_018952,AC103702,AF287967,CH471109,K02571,X58431,AI283987,AI352188,AK292200,AW370639,BC014651,M30597,S69023 NP_061825,AAG31552,EAW94728,EAW94729,EAW94730,EAW94731,CAA41335,CAA41336,BAF84889,AAH14651,AAA36004,AAD14028,P17509,Q16124,ABM81658,ADQ31671 Hs.98428 HOX2|HOX2B|HU-2|Hox-2.2 OTTHUMP00000216975|homeo box 2B|homeo box B6|homeobox protein Hox-2.2|homeobox protein Hox-2B|homeobox protein Hox-B6|homeobox protein Hu-2 protein-coding 1349103 HOXB7 homeobox B7 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq] 1580863 2885844,17308091,1678287,17514648,17274802,17203973,17018609,16673309,16597639,15756441,15342556,12697323,12477932,11857506,11522651,11290787,10435624,10233891,10208421,10026139,9681827,9457903,9373149,9366523,8756643,8646877,8570656,8125298,8105782,7738096,7530503,2576652,2574852,2573064,2570724,1981366,1973146,1358459,7729685,20480203,11585930,14973489,19878270,19956843 3217 NM_004502,AC103702,AF284825,AF287967,AJ414528,CH471109,AK223249,AK290653,BC015345,BG118354,BM923808,BP342702,BQ233410,M16937,M30598,S49765 NP_004493,AAG29814,AAG31551,CAC93674,EAW94725,EAW94726,BAD96969,BAF83342,AAH15345,AAA36003,AAA36005,AAB19469,P09629,Q9HB12,Q9HB28 Hs.436181 HHO.C1|HOX2|HOX2C|Hox-2.3 homeo box 2C|homeo box B7|homeo box c1 protein|homeobox protein HHO.C1|homeobox protein Hox-2C|homeobox protein Hox-B7 protein-coding 1345658 HOXB8 homeobox B8 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq] 1580863 14702039,11857506,11779477,11571641,11438208,10737800,9126347,8646877,2576652,2574852,2570724,1981366,1973146,1358459,15617687 3218 NM_024016,AC103702,AY014293,AY014294,CH471109,X16173,AI277015,AI672407,AK096222,AW612644,BF761142 NP_076921,AAG42143,EAW94723,EAW94724,CAA34295,BAC04730,P17481,Q8N8T3,AAI41561 Hs.514292 HOX2|HOX2D|Hox-2.4 homeo box 2D|homeo box B8|homeobox protein Hox-2.4|homeobox protein Hox-2D|homeobox protein Hox-B8 protein-coding 1314613 HOXB9 homeobox B9 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq] 1580863 10617598,19341834,17148583,16344560,16189514,15839736,15489334,18029348,20211142,14702039,12477932,11857506,11585930,11485933,11070089,9922051,8646877,2576652,2574852,2570724,1981366,1973146,1712647,1358459,19060904,19576624,20080567 3219 NM_024017,AC103702,AY014295,AY014296,CH471109,X16172,AK026084,AK056123,AK056414,AK315480,BC015565,BF305592,BX114117,CA426693,DA696753,DA712230 NP_076922,AAG42144,EAW94721,CAA34294,BAG51703,BAG37864,AAH15565,P17482 Hs.463350 HOX-2.5|HOX2|HOX2E homeo box 2E|homeo box B9|homeo box b9|homeobox protein Hox-2.5|homeobox protein Hox-2E|homeobox protein Hox-B9 protein-coding 1344128 HOXB@ homeo box B cluster 1973146,1358459 3210 1316332 HOXC10 homeobox C10 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq] 1580863 10835276,11445587,19522674,17974957,15489334,12853486,12477932,11857506,9357979,8646877,2878432,2574852,1358459,16799092 3226 AC012531,CH471054,AF255675,AK313759,AL558161,BC001293,BT009921,CR600861,CR622939,X99684,X99685,NM_017409 Q9NYD6,NP_059105,EAW96738,EAW96739,EAW96740,AAF67759,BAG36498,AAH01293,AAP88923,CAA67999,CAA68000,Q53XI4 Hs.44276 HOX3I|MGC5259 homeo box C10|homeobox protein Hox-3I|homeobox protein Hox-C10|homeoprotein C10 protein-coding 1313485 HOXC11 homeobox C11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq] 1580863 17488478,15489334,12477932,11857506,9357979,8646877,2878432,2574852,1973146,1358459,9582375,20145129,17207965 3227 NM_014212,AC012531,CH471054,AJ000041,AK291946,BC001543,CR602963,X99630 NP_055027,EAW96736,CAA03876,BAF84635,AAH01543,O43248,ADQ31878 Hs.127562 HOX3H|MGC4906 homeo box C11|homeobox protein Hox-3H|homeobox protein Hox-C11 protein-coding 1321500 HOXC12 homeobox C12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. 1580863 11857506,9357979,2574852,1973146,1358459 3228 NM_173860,AC012531,AF328962,AF328963,CH471054,AK125569,X99631 NP_776272,AAK16717,EAW96735,P31275,AAI60004 Hs.381267,Hs.587727 HOC3F|HOX3|HOX3F homeo box 3F|homeo box C12|homeobox protein Hox-3F|homeobox protein Hox-C12 protein-coding 1349214 HOXC13 homeobox C13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq] 1580863 20460270,10835276,19182517,15489334,15385554,14702039,12477932,12461755,11857506,11118201,10674376,9357979,8646877,2878432,2574852,1973146,1358459,15617687,17331444,18692240,19665070,20211142,20935629 3229 NM_017410,AC012531,CH471054,AA722686,AF255676,AF263466,AK024027,BC002754,BC090850,BT009908,BU158600,CR611726,X99679 NP_059106,EAW96734,AAF67760,AAF73439,BAB14786,AAH90850,AAP88910,CAA67995,P31276,Q6LAM3,Q86TI1 Hs.118608 HOX3|HOX3G NUP98/HOXC13|homeo box 3G|homeo box C13|homeo box c13|homeobox protein Hox-3G|homeobox protein Hox-C13 protein-coding 1351931 HOXC4 homeobox C4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq] 1580863 19363484,16582099,16344560,16215934,15674412,1358459,17207965,15252056,12672812,12477932,11857506,11279128,9327740,8646877,7915745,7718879,7566098,2898768,2878432,2576652,2574852,1973146,20855884 3221 CH471054,AA331371,AA621965,BC050442,BQ893403,CR615968,DA905719,X07495,NM_014620,NM_153633,NG_005542,AC012531,AC023794,AY014297,AY014298 EAW96744,EAW96749,AAH50442,CAA30376,P09017,Q86TF7,ADQ33042,NP_055435,NP_705897,AAG42145 Hs.549040 HOX3|HOX3E|cp19 homeo box 3E|homeo box C4|homeobox protein CP19|homeobox protein Hox-3E|homeobox protein Hox-C4 protein-coding 1344989 HOXC5 homeobox C5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq] 1580863 1346761,16344560,16215934,12477932,11857506,8646877,7913891,2898768,2878432,2576652,2574852,1973146,1358459,18029348 3222 NR_003084,NM_018953,NG_005542,AC012531,AC023794,CH471054,X61755,BC034922,BC044635,X52402 NP_061826,EAW96745,EAW96748,CAA43894,CAA36647,Q00444,Q14543,AAI40273,AAI41644 Hs.549040 CP11|HOX3|HOX3D homeo box C5|homeobox protein CP11|homeobox protein Hox-3D|homeobox protein Hox-C5 protein-coding 1348360 HOXC6 homeobox C6 This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. 1580863 8870653,17488478,16344560,15839736,15637592,15489334,12477932,11857506,8646877,7738096,2898768,2885844,2878432,2576652,2574852,1973146,1358459,8890171 3223 NM_153693,NM_004503,NG_005542,AC012531,CH471054,AK314829,AW445186,BC074844,BC074845,BF034547,BF108967,CR456954,M16938,S82986 Q6IB50,ABZ92011,NP_710160,NP_004494,EAW96746,EAW96747,BAG37349,AAH74844,AAH74845,CAG33235,AAA36007,AAB46892,P09630 Hs.549040 CP25|HHO.C8|HOX3|HOX3C OTTHUMP00000217385|homeo box 3C|homeo box C6|homeo box C8 protein|homeo box c6|homeobox protein CP25|homeobox protein HHO.C8|homeobox protein Hox-3C|homeobox protein Hox-C6 protein-coding 1353627 HOXC8 homeobox C8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. 1580863 16637071,15489334,14973489,12925734,12477932,11857506,11813208,11551904,11139569,10722652,10617598,10224145,9357979,8646877,8104467,2886047,2885844,2878432,2576652,2574852,1973146,1358459,15960974,17474147,9111364,20736365 3224 NM_022658,AC012531,AY014299,AY014300,CH471054,AK290959,BC053898,BU156590,BU618342,X99680,X99681 NP_073149,AAG42146,EAW96743,BAF83648,AAH53898,CAA67996,CAA67997,P31273 Hs.664500 HOX3|HOX3A Hox-3.1, mouse, homolog of|homeo box 3A|homeo box C8|homeo box c8|homeobox protein Hox-3A|homeobox protein Hox-C8 protein-coding 1314056 HOXC9 homeobox C9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq] 1580863 18305892,17588684,15489334,14973489,14702039,12477932,11857506,9357979,8646877,8570656,7967520,2878432,2576652,2574852,1973146,19506903,17207965,20211142 3225 NM_006897,AC012531,AY014301,AY014302,CH471054,AK000445,AK315194,BC021265,BC032769,BC053894,CR600750,CR617045,X99682 NP_008828,AAG42151,EAW96741,EAW96742,BAG37634,AAH32769,AAH53894,CAA67998,O15222,P31274,Q8N561,ADQ32563 Hs.658823 HOX3|HOX3B OTTHUMP00000217391|homeo box C9|homeobox protein Hox-3B|homeobox protein Hox-C9 protein-coding 1345222 HOXC@ homeo box C cluster 1973146,1358459 3220 1319375 HOXD1 homeobox D1 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. 1580863 12477932,11857506,11731253,11455954,11060466,10908280,10364522,8104620,7913891,7501971,2576652,1973146,1358459,19453261,19938081,20852632,20211142 3231 NM_024501,AC009336,AF202118,CH471058,AF241528,AK314120,BC014477,BC028190 NP_078777,AAG29939,EAX11080,AAG44444,BAG36811,AAH14477,AAH28190,Q8IZ25,Q96CA4,Q9GZZ0,ABM83163,ABM86363 Hs.83465 HOX4|HOX4G|Hox-4.7 homeo box 4G|homeo box D1|homeo box d1|homeobox protein Hox-D1|homeobox protein Hox-GG protein-coding 1315169 HOXD10 homeobox D10 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq] 1580863 1756725,18922890,17417092,17236141,16331564,16103068,15489334,15368082,15146389,14973489,12954737,12477932,12466126,12357469,11857506,11778160,11585930,11060466,10523646,10364522,9773404,8100684,7967520,7913891,2576652,2574852,1981366,1973146,1363084,1358459,1351871,8890171,19453261 3236 NM_002148,NG_008133,AC009336,CH471058,AA653427,AI651040,AL526269,AW243295,AW299531,BC069619,BC074760,BX114645,X59373 NP_002139,EAX11091,AAH69619,AAH74760,CAA42017,P28358,ABZ92012 Hs.123070 HOX4|HOX4D|HOX4E|Hox-4.4 homeo box 4D|homeo box D10|homeo box d10|homeobox protein Hox-4D|homeobox protein Hox-4E|homeobox protein Hox-D10 protein-coding 1346896 HOXD11 homeobox D11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq] 1580863 17236141,12477932,12357469,12217321,11857506,11782354,11778160,11493536,11060466,10364522,10075849,9343407,9323126,2574852,1973146,1358459,8890171,19255789,19453261,19540081,19938081,20085705 3237 CH471058,BC109394,BE260674,NM_021192,AC009336,AF154915 EAX11092,AAI09395,P31277,Q14DW8,AAI60135,NP_067015,AAF79045 Hs.421136 HOX4|HOX4F Hox-4.6, mouse, homolog of|homeo box 4F|homeo box D11|homeo box d11|homeobox protein Hox-4F|homeobox protein Hox-D11 protein-coding 1320327 HOXD12 homeobox D12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq] 1580863 17236141,16331564,12477932,12357469,11857506,11778160,11060466,11036080,10364522,9343407,9323126,2574852,1973146,1675198,1358459,19453261,19540081,19938081,20085705 3238 NM_021193,AC009336,AF154915,CH471058,BC069088,BC121103,BC121104,BG031716 NP_067016,AAF79044,EAX11093,EAX11094,AAI21104,AAI21105,P35452,Q0VAD7,Q0VAD8 Hs.450028 HOX4H Hox-4.7, mouse, homolog of|OTTHUMP00000217531|homeo box D12|homeo box d12|homeobox protein Hox-4H|homeobox protein Hox-D12 protein-coding 1318172 HOXD13 homeobox D13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq] 1599534,1580863 9207113,8614804,19540081,19488988,19453261,19060004,18758158,18566322,18399101,18244901,18072967,17853405,17656229,17236141,17216618,16861351,16331564,16222680,15952114,15696469,12900906,12649808,12620993,12414828,11857506,11778160,11329013,11060466,9758628,9323126,9005557,8817328,7581388,2574852,1973146,1675198,1358459,12357469,15617687,16087734,19686284,19703996 1599534 3239 NM_000523,NG_008137,AB032481,AC009336,AF005219,AF005220,CH471058,BG204577,BX100910 NP_000514,BAA95352,AAC51635,EAX11095,P35453,AAI48864,AAI52761 Hs.152414 BDE|BDSD|HOX4I|SPD homeo box 4I|homeo box D13|homeo box d13|homeobox protein Hox-4I|homeobox protein Hox-D13 protein-coding 1344554 HOXD3 homeobox D3 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq] 1580863 8890171,19283074,17785556,17126050,15545924,15489334,14633614,14610084,12477932,12405287,11857506,11060466,10648567,10364522,9520319,7913891,7742539,2886047,2576652,2574852,1973146,1712489,1358459,1358204,20212450,12836255,19453261,19938081,20211142,20852632 3232 NM_006898,AC009336,CH471058,D11117,Y09980,BC005124,BC008789 NP_008829,EAX11085,BAA01891,CAA71102,AAH05124,AAH08789,P31249,ABM83900,ABM87221 Hs.93574 HOX1D|HOX4|HOX4A|Hox-4.1|MGC10470 Hox-4.1, mouse, homolog of|OTTHUMP00000205238|OTTHUMP00000217533|homeo box D3|homeo box d3|homeobox protein Hox-4A|homeobox protein Hox-D3 protein-coding 1320172 HOXD4 homeobox D4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq] 1580863 2879245,19232136,15776434,15489334,12477932,11857506,11778160,11585930,11060466,10523646,10364522,9748262,7913891,2576652,1975093,1973146,1358459,11279128,20686522,19453261,19938081 3233 NM_014621,NG_012080,AC009336,CH471058,X17360,AK313885,BC016763,BC074797,X04706 NP_055436,EAX11086,CAA35237,BAG36610,AAH16763,AAH74797,CAA28411,P09016 Hs.591609 HHO.C13|HOX-5.1|HOX4|HOX4B|Hox-4.2 Hox-4.2, mouse, homolog of homeo box X|homeo box d4|homeobox protein HHO.C13|homeobox protein Hox-4B|homeobox protein Hox-5.1|homeobox protein Hox-D4 protein-coding 1351859 HOXD8 homeobox D8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. [provided by RefSeq] 1580863 2568311,12477932,12357469,11857506,11060466,10364522,8100165,7913891,7501971,1973146,1358459,1351871,19453261,19825936,19938081,8890171 3234 NM_019558,AC009336,AY014303,CH471058,X15507,AL530925,BC038709,BC090853,BI764317,CR613054,CR613626,AW140108,BQ429720,NM_001199746,NM_001199747 NP_062458,AAG42152,EAX11089,CAA33529,AAH38709,AAH90853,P13378,Q5BL00,Q8IXZ1,NP_001186675,NP_001186676 Hs.301963,Hs.700870 HOX4|HOX4E|HOX5.4 Hox-4.5|Hox-4.5, mouse, homolog of|OTTHUMP00000205237|homeo box 4E|homeo box D8|homeobox protein 5.4|homeobox protein Hox-4E|homeobox protein Hox-5.4|homeobox protein Hox-D8 protein-coding 1354432 HOXD9 homeobox D9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq] 1580863 20700443,7926763,7779685,2574852,2568311,1973146,1358459,10523646,1756725,17236141,15770739,12520199,12477932,12060849,11857506,11778160,11060466,10642795,10364522,9079695,8890171,8889548,19453261,19938081 3235 NM_014213,NG_009225,AC009336,CH471058,X15506,AI264311,BC044855,BF055327,BU732638,X59372 NP_055028,EAX11090,CAA33528,AAH44855,CAA42016,P28356 Hs.236646 HOX4|HOX4C|Hox-4.3|Hox-5.2 Hox-4.3, mouse, homolog of|homeo box D9|homeo box d9|homeobox protein Hox-4C|homeobox protein Hox-5.2|homeobox protein Hox-D9 protein-coding 1349678 HOXD@ homeo box D cluster 1973146,1358459 3230 737269 HP haptoglobin This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1626355,1626365,1626394,1626335,1626340,1626361,1626378,1626350,1626353,1626356,1626362,1626381,1626348,1626351,1626344,1626352,1626363,1626370,1626374,1626375,1626391,1626341,1626346,1626366,1626337,1626342,1626349,1626354,1626360,1626367,1626339,1626343,1626345,1626347,1626376 20376581,12074569,12018475,11967116,11909563,11865982,11865981,11865979,11865978,11854028,11565553,11564959,11529861,11436564,11427216,11380078,11196644,11109501,10493829,9463309,9352226,8945641,8889549,7378053,6997877,6688992,6546723,6330675,6325933,6310599,6310515,4573324,4018023,3519135,3455911,2987228,2820712,2787245,1478675,20521439,20371432,20943062,20881411,20926521,21053180,15490286,12113290,7036344,14718574,19569003,19569002,19474129,19457062,19455468,19446743,19440331,19404920,19402793,19367581,19356838,19347351,19306859,19296903,19296479,19291877,19259359,19210891,19131549,19108738,19101688,19074141,18959750,18951869,18848136,18787013,18760271,18691072,18636124,18563533,18554871,18413152,18332093,18291005,18258668,18257091,18082523,18032779,17918239,17910034,17880628,17822661,17764509,17678914,17525367,17460152,17426810,17357835,17304451,17275123,17220636,17102136,17087019,17082477,16879055,16740002,16681422,16644889,16637741,16436647,16407342,16335952,16224193,16176058,16123372,16086594,16009149,15960705,15866595,15489334,15385675,15333469,15306193,15274115,15103512,15049697,15019547,14999562,14967153,14760718,14711515,14702039,14657203,14629808,14616769,14597045,12942785,12941748,12941730,12938813,12867276,12792358,12754519,12477932,12388365,12372461,12187922,12174790,16712791,19913121,20417195,20552021,20587610,20602615,20628086,16099106,18583979,19171342,19379511,19433579,19444643,19682981,19720796,19740759,19743954,19751729,19785722,19801537,19804773,19805376,19879940,19956848,20017911,20064496,20066028,20109103,20351714,20368232,20444272,20372805 1626355,1626365,1626394,1626335,1626340,1626361,1626378,1626350,1626353,1626356,1626362,1626381,1626348,1626351,1626344,1626352,1626363,1626370,1626374,1626375,1626391,1626341,1626346,1626366,1626337,1626342,1626349,1626354,1626360,1626367,1626339,1626343,1626345,1626347,1626376 3240 K00422,K01763,L29394,T71743,X00637,NM_005143,NM_001126102,NG_012651,AC004682,AC009087,CH471166,DQ314870,M10935,M69197,X00606,X01793,AK055872,AK314700,BC017862,BC058031,BC070299,BC107587,BC121124,BC121125,CB117006,CB134891,CR591153,CR592280,CR592814,CR593594,CR596989,CR597047,CR599000,CR601129,CR601475,CR601602,CR608843,CR611366,CR611613,CR611617,CR613780,CR615236,CR615568,CR616676,CR620944,CR622185,CR622621,CR622783 AAA52687,AAA52684,AAA52685,CAA25267,P00738,Q0VAC5,Q6NSB4,Q6PEJ8,NP_005134,NP_001119574,AAC27432,EAW59194,EAW59195,EAW59196,EAW59197,ABC40729,AAA88080,AAA88078,CAA25248,CAA25926,BAG51589,BAF98793,AAH17862,AAH58031,AAH70299,AAI07588,AAI21125,AAI21126 Hs.513711,Hs.708058 BP|HP2-ALPHA-2|HP2ALPHA2|HPA1S|MGC111141 binding peptide|haptoglobin|haptoglobin alpha(1S)-beta|haptoglobin alpha(2FS)-beta|haptoglobin, alpha polypeptide|haptoglobin, beta polypeptide protein-coding 1606796 HP1BP3 heterochromatin protein 1, binding protein 3 19165527,14702039,12477932,20042602,20379614,20800603 50809 NM_016287,AL606477,AL663074,CH471134,AF113534,AK023129,AK025754,AK291252,AK303456,AK304065,AL833978,BC032139,BC045660,BC046170,BC053327,BE247224,BM312215,CK000759,CR599334,CR621795 NP_057371,CAI12528,CAI12529,CAI12530,CAI12531,CAI12532,CAI12533,CAQ10949,CAQ10950,CAQ10951,CAQ10952,CAQ10953,CAI23387,CAI23388,CAI23389,EAW94950,EAW94951,EAW94952,EAW94953,AAF14871,BAG51160,BAF83941,BAG64500,BAG64972,CAD38822,AAH32139,AAH45660,Q5SSJ5,Q5SWC8,ACE87698 Hs.142442 HP1-BP74|MGC43701|RP5-930J4.3 HP1-BP74|OTTHUMP00000002717|OTTHUMP00000002719|OTTHUMP00000002720|heterochromatin protein 1-binding protein 3 protein-coding 1353721 HPC1 hereditary prostate cancer 1 8910276,9497242 5513 AF172072 2293407,2293442,2299879,2299880,2299882 PRSTS277_H,PRSTS198_H,PRSTS314_H,PRSTS313_H,PRSTS312_H 735421 HPCA hippocalcin The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq] 728546 11964161,8387172,16053445,15489334,14638856,12477932,11836243,10899114,9931466,8360179,8166736,1280427,9427749,19332348,19686238 728546 3208 NM_002143,AB015202,AC114493,CH471059,AK313907,BC001777,BT019750,BT019789,D16593 NP_002134,BAA74456,EAX07494,EAX07495,EAX07496,EAX07497,EAX07498,BAG36630,AAH01777,AAV38555,AAV38592,BAA04019,P84074,Q5U068,ACE87759,ACE87079 Hs.632391 BDR2 calcium-binding protein BDR-2|neuron specific calcium-binding protein hippocalcin|neuron-specific calcium-binding protein hippocalcin protein-coding 1348150 HPCAL1 hippocalcin-like 1 The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. There are two alternatively spliced transcript variants of this gene, with multiple polyadenylation sites. [provided by RefSeq] 1580863 8038222,16713569,16703469,16381901,16189514,15834280,15489336,15489334,14739275,14694264,12477932,12445467,11964161,11173883,11076863,10851344,10683417,9110174,8619474,8387172,20098747,21059989 3241 CR616250,CR623935,CR749837,D16227,NM_134421,AC007240,AC007249,CH471053,AF070616,AK000596,AK292280,BC009846,BC017028,BC017482,BT009835,CR541975,CR591594,CR593075,CR594189,CR599816,CR599915,CR605568,NM_002149,CR607303,CR613842 CAH18693,BAA03754,O75544,P37235,Q68CP5,Q6FGY1,CAL37431,CAL37471,CAL37587,CAL37806,CAL38180,CAL38266,NP_002140,NP_602293,AAY15033,EAX00960,EAX00961,EAX00962,EAX00963,EAX00964,EAX00965,EAX00966,AAC25387,BAF84969,AAH09846,AAH17028,AAH17482,AAP88837,CAG46773 Hs.467696,Hs.580427 BDR1|HLP2|VILIP-3 calcium-binding protein BDR-1|hippocalcin-like protein 1|visinin-like protein 3 protein-coding 1348718 HPCAL4 hippocalcin like 4 The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. [provided by RefSeq] 10520747,11256614,16710414,16381901,16189514,15489336,15489334,12477932,11230166,11076863,20379614 51440 NM_016257,AL035404,CH471059,AB001105,AK294412,AK294813,AK312314,AL136591,BC030827 NP_057341,CAI19574,EAX07257,EAX07258,BAA86892,BAG57662,BAG57930,BAG35239,CAB66526,AAH30827,Q9UM19,CAL37539,CAL38465,ABM83266,ABM86471 Hs.724402 DKFZp761G122|HLP4 hippocalcin-like protein 4 protein-coding 1345191 HPCX hereditary prostate cancer, X-linked 9771711 9566 2293413 PRSTS210_H 731782 HPD 4-hydroxyphenylpyruvate dioxygenase 1300048,1580863 9325050,8521727,8504803,7851880,17560158,15489334,14702039,12477932,12107413,11073718,10942115 3242 AC069503,NM_002150,AC079360,CH471054,D31628,U29895,AK057510,AK290826,BC014790,BC024287,CD675915,X72389,NG_016461,NM_001171993 NP_002141,EAW98291,EAW98292,BAA06498,AAC73008,BAG51925,BAF83515,AAH24287,CAA51082,P32754,ABM83590,ABM87048,NP_001165464 Hs.2899 4-HPPD|4HPPD|GLOD3|HPPDASE|PPD 4-hydroxyphenylpyruvate dioxygenase|4-hydroxyphenylpyruvic acid dioxygenase|4-hydroxyphenylpyruvic acid oxidase|glyoxalase domain containing 3 protein-coding 1606204 HPDL 4-hydroxyphenylpyruvate dioxygenase-like 16710414,15489334,12477932 84842 NM_032756,AL359540,CH471059,AI808699,AK313714,BC007293,BQ069740,CR597681,CR602636,CR620904,CR622386 NP_116145,CAI21712,EAX07002,BAG36457,AAH07293,Q96IR7 Hs.162717 4-HPPD-L|GLOXD1|MGC15668|RP4-534D1.1 4-hydroxyphenylpyruvate dioxygenase-like protein|glyoxalase domain containing 1|glyoxalase domain-containing protein 1 protein-coding 1351929 HPE1 holoprosencephaly 1, alobar 7485157 3244 1345391 HPFH2 hereditary persistence of fetal hemoglobin, heterocellular, Indian type 3247 736886 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20635443,2025296,10198228,15581601,15531523,15574495,18029348,19494278,19336370,19138967,19034772,19027726,19010907,18987618,18805827,18660489,18632593,18593902,18500342,18328086,18212353,18174234,17463062,19820419,1635910,16997128,16880406,16632868,15680906,15489334,15181076,14718596,12914529,12788907,12679466,12664592,12477932,12144871,11889207,11702189,10650939,9920098,9099873,9048936,8482380,8157731,7557451,2337593,1697582,16828555,19568269,19584167,19608733,19667156,19667157,19917058,20042636,20086108,20093479,20452482,20643784,20304053,21047993,19913121,20628086,20673868,20689807 3248 NM_000860,NG_011689,NM_001145816,NR_027332,AC096751,AF177983,CH471056,DQ903072,AI435471,AK058013,AK296642,AK300125,AK300524,AK300940,AK314624,BC007691,BC018986,CR590250,CR594801,CR598443,CR600709,CR602985,CR603356,CR603849,CR604844,CR605509,CR606077,CR608377,CR618581,CR619023,J05594,L76465,U63296,X82460,GN344027 NP_000851,NP_001139288,AAF29493,EAX04734,EAX04735,EAX04736,EAX04737,ABI75347,BAH12408,BAG61916,BAG62236,BAG62569,BAG37190,AAH18986,AAA89174,AAA89175,AAB53034,CAA57843,O00749,P15428,Q12998,Q9NZQ5,CAY55949 Hs.596913 15-PGDH|PGDH|PGDH1|SDR36C1 15-hydroxyprostaglandin dehydrogenase|15-hydroxyprostaglandin dehydrogenase [NAD+]|NAD+-dependent 15-hydroxyprostaglandin dehydrogenase|nad-dependent 15-hydroxyprostaglandin dehydrogenase|prostaglandin dehydrogenase 1|short chain dehydrogenase/reductase family 36C, member 1 protein-coding 732845 HPGDS hematopoietic prostaglandin D synthase Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq] 68838,1300048 19913121,20628086,9353279,10781097,19276290,19247692,19181746,19124506,18946232,15489334,15113825,12895599,12707014,12627223,12477932,12002745,11672424,11068878,10998423,10824118,9475419,9425264,20074808,18029348 68838 27306 AB008830,AC096746,AC109925,AC110297,CH471057,AK290075,BC020734,CB988786,CR541662,CR541679,CR619711,CR622166,D82073,NM_014485 NP_055300,BAA96854,AAY40905,EAX06052,BAF82764,AAH20734,CAG46463,CAG46480,BAA25545,O60760,Q4W5C6 Hs.128433 GSTS|PGDS GST class-sigma|glutathione S-transferase sigma|glutathione-dependent PGD synthase|glutathione-dependent PGD synthetase|glutathione-requiring prostaglandin D synthase|hematopoietic prostaglandin D synthase|hematopoietic prostaglandin D2 synthase|prostaglandin-H2 D-isomerase protein-coding 1352750 HPLH1 hemophagocytic lymphohistiocytosis 1 9915955 27259 732957 HPN hepsin This gene encodes a type II transmembrane serine protease. The encoded protein has an extracellular region that consists of two domains, a catalytic serine protease domain and a non-catalytic scavenger receptor cysteine-rich domain. This protein may be involved in diverse cellular functions including blood coagulation, maintenance of cell morphology and the growth and progression of certain cancers, particularly prostate cancer. Alternative splicing results in multiple transcript variants. 1580863 15489334,14702039,12962630,12629351,12477932,11171558,8346233,7814421,2835076,18029348,1885621,18784072,18698500,18487557,18383840,18381435,17569629,17309599,16908524,16783571,15792801,15583422,19911255,20015050,20166135,20673210 3249 NM_182983,NM_002151,AC020907,AK091988,AK095160,AK293622,AK315655,BC025716,CR592189,CR597177,EU644753,M18930,X07002,X07732 NP_892028,NP_002142,BAH11550,BAG38021,AAH25716,ACD02430,AAA36013,CAA30058,CAA30558,P05981,ABM83045,ABM86240 Hs.182385 TMPRSS1 hepsin|serine protease hepsin|serine protease hepsin catalytic chain|serine protease hepsin non-catalytic chain|transmembrane protease serine 1|transmembrane protease, serine 1 protein-coding 1343438 HPR haptoglobin-related protein 1580863 2987228,16682745,19324878,17845074,17360487,16778136,11814582,11752456,10493829,10085035,9461571,8945641,8889549,7716520,4018023,2876426,1478675,20800603,16712791,19913121,20628086 3250 NM_020995,AC004682,AC009087,CH471166,K03431,M10935,M13908,M69197,X01794,AV698541,BM547990,CB115435,CB147217,H93376,N55255,T71114 NP_066275,AAC27433,EAW59193,AAA88081,AAA52686,AAA88079,CAA25927,P00739,Q14552,AAI60066 Hs.655361 A-259H10.2|HP Haptoglobin-related locus|haptoglobin-related protein protein-coding 731296 HPRT1 hypoxanthine phosphoribosyltransferase 1 HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (Keebaugh et al., 2007 [PubMed 16928426]).[supplied by OMIM] 1300048,1580863 7107641,6930669,6853716,6853490,6706936,6572373,6343377,6309910,6204922,6087154,3921964,3909940,3527873,3384338,3358423,3320967,3265398,3198771,3148064,3023844,3008106,2928313,2910902,2909537,2896620,2835825,2760209,2738157,2358296,2347587,2341149,2246854,2071157,2018042,1937471,1840476,6300847,9521733,10360366,8044844,9824441,8643611,18835879,18779430,18600559,18600506,18494542,18409516,18407966,18316217,18288319,17934765,17700363,17697207,17628775,17454734,17353931,17027311,16951156,16928426,16458330,16355393,16240158,16216473,16189514,16138897,15990111,15987524,15862284,15862283,15779006,15601998,15571224,15571223,15571222,15571220,15491638,15489334,15277709,15204312,15178494,15146465,14767555,12874812,12616531,12477932,12376523,12175903,11891689,11714443,11668636,11591653,11434773,11219770,10338013,9003484,8524221,8485579,7627191,1551676,1487231,1301916,14499622,19060904,19342420,19672249,19706768,19995283,20038437,20045992,20544510,20544509,20544511,18029348 3251 CR614617,L29382,L29383,M24772,M31642,S60300,AC004383,AY780550,CH471107,M12452,M26434,S79313,AK313435,BC000578,BT019350,CR407645,NM_000194,NG_012329 AAB59392,AAB59391,AAA52690,AAC60591,P00492,Q6LET3,ABM86033,ABM86035,ABW03767,ABW03456,NP_000185,AAV31777,EAX11760,EAX11761,AAA52691,AAA36012,AAB21289,BAG36226,AAH00578,AAV38157,CAG28573 Hs.412707 HGPRT|HPRT HGPRTase|hypoxanthine guanine phosphoribosyl transferase|hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)|hypoxanthine-guanine phosphoribosyltransferase protein-coding 1343384 HPRT2 hypoxanthine phosphoribosyltransferase 2 3252 1347588 HPRTP1 hypoxanthine phosphoribosyltransferase pseudogene 1 87146452,6089358 3253 1351283 HPRTP2 hypoxanthine phosphoribosyltransferase pseudogene 2 6089358,1675192 3254 NG_003031,AC114300 pseudo 1342808 HPRTP3 hypoxanthine phosphoribosyltransferase pseudogene 3 3255 NG_007296,AP002795 pseudo 1345593 HPRTP4 hypoxanthine phosphoribosyltransferase pseudogene 4 100128522 NG_007297,AP002795 pseudo 1605436 HPS1 Hermansky-Pudlak syndrome 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq] 1625056 12663659,10625677,11836498,8896559,19320733,19023099,18463683,17975119,17365864,16431308,16417222,16020891,12847290,12756248,12477932,12442288,12125811,10971344,10798370,9579545,9497254,9182823,8541858,7573033,16385451,19665357,19865097,20048159,20514622,17207965 1625056 3257 NM_182639,NG_009646,AF450133,AL139243,CH471066,U79136,AK295821,AL702912,AL833734,BC000175,BC002514,BC127087,BI518436,BQ100915,CR592714,CR593063,CR593191,CR596924,CR598347,CR600212,CR609635,CR620028,CR625584,U65676,U96721,NM_000195 Q658M9,Q8WXE5,Q92902,AAI66631,NP_000186,NP_872577,AAL50684,CAI14150,CAI14151,CAI14152,CAI14153,EAW49877,EAW49878,EAW49879,EAW49880,EAW49881,EAW49882,EAW49883,AAB70662,BAG58638,CAH56230,AAH00175,AAB17869,AAC52074,Q5TAA8,ADQ32329 Hs.404568 HPS|MGC5277 Hermansky-Pudlak syndrome 1 protein|Hermansky-Pudlak syndrome type 1 protein-coding 1321513 HPS3 Hermansky-Pudlak syndrome 3 This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq] 1599538 17365864,16417222,16159387,15632015,15489334,15030569,14702039,12847290,12477932,12125811,11707070,11590544,11455388,9497254,20562649 1599538 84343 AY033141,BC016901,BC022062,BC040359,BG618578,CR600710,CR622327,NG_009847,AC021059,AC131209,AF375663,CH471052,AK026357,AK055245,AK056575,AK291631,AK298478,AL832735,AL833878,NM_032383 CAD38735,AAK53457,AAH16901,AAH22062,AAH40359,Q8N3N1,Q969F9,ABM82104,ABM85286,NP_115759,AAK84131,EAW78885,EAW78886,EAW78887,EAW78888,BAB15459,BAB71221,BAF84320,BAG60689 Hs.591311 DKFZp686F0413|FLJ22704|SUTAL Hermansky-Pudlak syndrome 3 protein|OTTHUMP00000215797 protein-coding 1317629 HPS4 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599546,1580863 8889548,20936779,20048159,12663659,11836498,12756248,18463683,17365864,16431308,15489334,15461802,14702039,12847290,12664304,12529303,12477932,11258795,10591208 1599546 89781 NM_022081,NM_152841,NG_009763,CH471095,Z99714,AB051454,AK054717,AK057648,AK095406,AK097529,AK097886,AK123691,AK290211,AL365512,AL713795,AY043416,BC028625,BC035614,BC050285,BC065030,BM975247,CR456392,CR601317 NP_071364,NP_690054,EAW59717,EAW59718,EAW59719,EAW59720,CAI17880,BAB33337,BAB71540,BAG53049,BAF82900,CAB97208,CAD28549,AAK95330,AAH65030,CAG30278,Q6ICH6,Q6P1K3,Q9NQG7,CAK54398,CAK54697 Hs.474436 KIAA1667|LE|bK1048E9.4|bK1048E9.5 Hermansky-Pudlak syndrome 4 protein|light-ear protein homolog protein-coding 1323623 HPS5 Hermansky-Pudlak syndrome 5 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq] 15030569,17365864,17301833,15489334,15296495,14702039,12548288,12477932,12168954,10231032,10094488,21124955 11234 NM_007216,NM_181507,NM_181508,NG_008877,AC084117,AC107948,CH471064,AA886415,AB023234,AF534400,AF534401,AF534402,AJ131721,AK024320,AK291663,AK292436,BC033640,CR626720 NP_009147,NP_852608,NP_852609,EAW68402,EAW68403,EAW68404,EAW68405,EAW68406,EAW68407,BAA76861,AAO25962,AAO25963,AAO25964,CAB38232,BAG51290,BAF84352,BAF85125,AAH33640,Q9UPZ3 Hs.437599 AIBP63|KIAA1017 Hermansky-Pudlak syndrome 5 protein|alpha integrin binding protein 63|alpha-integrin-binding protein 63|ruby-eye protein 2 homolog protein-coding 1347712 HPS6 Hermansky-Pudlak syndrome 6 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq] 632833 15489334,15030569,14702039,12548288,12477932,16169070,16385451,19843503 632833 79803 NM_024747,NG_012029,AL500527,CH471066,AF536238,AK026154,BC009258,BC011594,BC014993,BC064917 NP_079023,CAH72214,EAW49725,EAW49726,AAO25965,BAB15378,AAH11594,AAH14993,Q86YV9 Hs.125133 FLJ22501|MGC20522|RP11-302K17.1 Hermansky-Pudlak syndrome 6 protein|Hermansky-Pudlak syndrome-6 protein (HPS6)|ruby-eye protein homolog protein-coding 736250 HPSE heparanase 19835469,20403028,10395325,10446189,19437318,19406828,19401035,19305494,19096032,18812315,18809970,18798279,18773863,18704599,18662687,18647407,18646256,18618498,20388348,20653782,20619346,20798248,11027606,20578081,18609704,16093249,18557927,18545691,18512775,18487013,18450756,18329709,18305555,18288398,18217145,18212251,18167611,18064313,17989358,17634531,17611567,17524042,17519955,17481627,17467664,17437011,17419711,17339423,17284253,17261577,17217623,17208203,17141400,17095861,17051139,16982797,16890383,16867222,16855356,16826429,16790442,16709798,16514606,16429446,16391819,16303743,16288472,16263699,16217746,16112651,16097072,14573609,14522979,12927802,12904690,12837765,12824922,12746471,12713442,12679316,12509917,12477932,12441129,12219030,12213822,12097647,12065771,12029075,12027584,11973358,11798780,11779847,11759110,11547900,11406531,11351242,11123890,10940554,10764835,10405343,10395326,9668050,9373149,8125298,15264223,16007175,15983219,15848168,15760902,15737842,15728796,15682491,15659389,15645118,15625607,15610235,15489334,15471949,15368349,15334672,15292202,15144715,15109255,15100255,15040016,15034597,14989983,14967027,14769819,14676122,14633698,20660327,19715595,19749739,19802384,19916174,19955948,19956890,20007507,20075159,20097882,20164500,20339231,14558943,15475937,15709168,15837740,16879396,17715045,18058084,18246800,18390199,19180921,20434010,20309870 10855 NM_001098540,NM_006665,AC114781,CH471057,CQ840768,CQ840860,CQ971645,AF084467,AF144325,AF152376,AF155510,AF165154,AK075400,AK222986,AM419200,AY948074,BC029464,BC051321,CR604689,CR610536,FJ517659,FJ517660,GQ337901,GQ337902,AW293069,NG_028037,NM_001199830,HM187643,NM_001166498 NP_001092010,NP_006656,EAX05932,EAX05933,CAH05691,CAH05695,CAI40110,AAD54516,AAD41342,AAD45669,AAD54941,AAD45379,BAG52128,BAD96706,CAL91960,AAX47106,AAH51321,ACT98237,ACT98238,Q9Y251,NP_001186759,ADK11282,NP_001159970 Hs.44227 HPA|HPA1|HPR1|HPSE1|HSE1 OTTHUMP00000219799|OTTHUMP00000219801|OTTHUMP00000219802|endo-glucoronidase|heparanase|heparanase exon 9&10 deletion|heparanase exon10-deletion|heparanase-1|hpa1 protein-coding 1317455 HPSE2 heparanase 2 1580863 11027606,18058084,17989358,16879396,15837740,15709168,15475937,15164054,14702039,12477932,20031192,20560209,20560210,16385451,18528290,18617780,19955924,20182872,20379614 60495 AL139243,AL356220,AL356268,AL360075,AL365210,AL391260,AL445251,AL590036,CH471066,AF282885,NM_021828,NG_023416,AF282886,AF282887,AJ299719,AJ299720,AK094037,AK314759,BC112356,AK021746,AK126010,NM_001166244,NM_001166245,NM_001166246 NP_068600,CAI14146,CAI14147,CAI14148,CAI17160,CAI17161,CAI17162,CAH70448,CAH70449,CAH70450,CAI16472,CAI16473,CAI16474,CAH73137,CAH73138,CAH73139,EAW49872,EAW49873,EAW49874,AAG23421,AAG23422,AAG23423,CAC82491,CAC82492,BAG52801,BAG37297,AAI12357,Q2M1H9,Q8WWQ2,NP_001159716,NP_001159717,NP_001159718 Hs.500750,Hs.676960,Hs.689544 FLJ11684|FLJ44022|HPA2|HPR2|MGC133234|UFS OTTHUMP00000020251|heparanase 3|heparanase-2|heparanase-like protein protein-coding 1348163 HPT hypoparathyroidism 3258 1350321 HPV18I1 human papilloma virus (type 18) integration site 1 3028716 3260 1347895 HPV18I2 human papillomavirus (type 18) integration site 2 3033295 3261 1347100 HPV6AI1 human papillomavirus (type 6a) integration site 1 8118820 3259 X77607 miscrna 1354452 HPVC1 human papillomavirus (type 18) E5 central sequence-like 1 7581372 3262 AC092848,CH236957,X85042,NR_004422 HPV18E5L|PE5L miscrna 737150 HPX hemopexin This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq] 1580863 20149159,20610401,3855550,14718574,18044975,17968708,17636883,17229156,17185359,16740002,16335952,16199891,16079987,16014037,15697213,15697212,15558018,15084671,14760718,12675843,12477932,12042069,11752456,10981817,10737728,10443938,8855948,8647924,8612795,8474687,8463269,8175675,6510521,6371807,4105917,3661561,3455011,3372522,3220477,3036819,2989777,2842511,2833500,2735186,620056,19913121,20628086,19863188,19966041 3263 AC084337,CH471064,CS185535,M36796,M36798,M36799,M36800,M36801,M36802,M36803,AK303758,AK313648,AV655383,BC005395,CR595529,CR597029,CR601115,CR611907,CR614628,CR617142,CR617755,J03048,X02537,NM_000613 NP_000604,EAW68718,EAW68719,EAW68720,EAW68721,CAJ42716,AAA58678,BAH14040,BAG36404,AAH05395,AAA52704,CAA26382,P02790,Q9BS19 Hs.426485 FLJ56652|HX beta-1B-glycoprotein|hemopexin protein-coding 1350210 HPYR1 Helicobacter pylori responsive 1 (non-protein coding) 11598072 93668 NR_026684,AC018540,AF200341 Hs.545218 HPRG1|NCRNA00027 miscrna 1344984 HR hairless homolog (mouse) This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by multiple regulatory ORFs that exist upstream of the primary ORF. Mutations in one of these upstream ORFs, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599575,1599576 9445480,19122663,18709303,18164595,17958788,17869066,17609203,17372750,16344560,16269453,15900300,15489334,14702039,12477932,12406339,12271294,11966690,11410842,10469319,10205263,10051399,9758627,9736769,9463324,8889548,8357006,11641275,20512927,11748221,12403844,12847098,19540091,19747330,19819974,19897589,20087431,20055871 1599575,1599576 55806 NM_018411,NM_005144,NG_008166,AC105206,CH471080,AF039196,AJ277165,AK098053,AK308839,AL833253,AW291630,BC008946,BC067128,BM982749,BX109092,DA114279,DA326731 NP_060881,NP_005135,EAW63716,EAW63717,EAW63718,AAC32258,CAB86602,AAH67128,O43593 Hs.272367 ALUNC|AU|FLJ98880|HSA277165|MUHH|MUHH1 protein hairless protein-coding 730881 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq] 2314833,2314834,2314836,2314838,2314840,2314841,2314832,1358733,1580863 20425820,20491778,18383861,18355852,18330889,18325324,18310288,18296105,18284919,18247425,18176964,18094044,18077377,18048363,18042262,18039947,18021740,17979197,17974970,17943694,17912430,17767136,17712732,17699159,17638918,17635919,17601930,17518771,17488404,17428306,17412879,17388810,17374253,17324647,17264303,17255356,17237388,17230191,17210246,17196792,17164262,17096025,17094109,17056636,18425390,17018607,16969868,16945398,9219684,11520933,9020890,10848592,10842192,7972015,8493579,9069260,9690470,9880516,19628422,19487299,19443408,19406145,19369630,19351817,19347028,19326463,19303097,19289583,19276157,19254697,19240121,19218240,19206176,19160018,19146951,19140325,19133693,19107910,19107228,19101897,19089619,19075190,19064572,19048123,19035362,19029954,19021766,18922970,18790720,18783589,18771652,18769120,18757346,18677112,18676755,18660489,18655729,18641685,18621636,18577512,18555006,18485440,18465119,18454158,11335720,11303621,11257115,11156605,11136978,11097227,11022048,10998413,10989457,10922060,10891505,10862698,10848576,10783161,10677502,10574788,10545207,10514505,10504264,10490827,10485711,10369681,10212255,9699522,9674433,9582122,9525745,9488663,9235916,9150145,9144171,9113989,9099670,9038168,8939933,8911690,8753867,8663024,8628317,8626715,8621645,8607982,8554611,8530446,8280380,8142349,8137421,8035810,7969158,7916576,7862125,7744247,7730360,7706312,7628625,7177195,6866079,6844927,6616621,6587382,6312329,6308640,6298635,6290897,6098458,6087347,6086315,3932274,3856237,3670300,3476115,3295562,3276402,3131765,3109943,3102434,3088563,3034404,3011420,2999610,2998510,2991860,2833817,2661017,2654810,12878090,12874025,12867418,12838617,12750467,12748287,12740440,12732644,12727991,12717016,12695509,12668284,12628188,12620389,12589428,12569357,12540507,12477932,12379659,12135390,12134164,12115522,12034322,11980706,11977185,11948427,11934900,11920220,11904419,11880369,11788888,11744690,11739523,11709720,11695563,11695562,11560935,11525649,11487538,11352655,2476675,8665852,20583607,21115922,20375073,20392691,20188103,20936779,20038817,20479006,20824703,20860430,21072204,16923573,16890591,16881968,16857742,16849642,16831126,16806262,16774944,16761621,16760302,16738062,16717102,16645632,16644864,16598313,16598312,16573741,16569214,16552541,16532025,16531227,16518851,16518842,16488657,16436381,16434492,16384911,16356174,16329078,16286246,16268778,16268414,16264231,16187291,16174078,16170316,16170018,16081426,16007212,16005186,16000296,15980150,15963850,15950068,15940260,15855817,15831492,15816642,15784896,15761501,15757891,15721486,15705808,15702478,15697248,15684418,15677464,15638373,15597105,15528212,15496409,15489334,15320975,15211515,15202051,15187129,15098441,15031297,15031288,14767509,14737103,14729607,14724641,14693748,14688016,14662018,14576295,14500341,12970366,12915131,2448879,2217184,2196171,2121270,1970154,1924354,1899707,1549493,1459726,9344703,9269777,16436505,11958689,10748182,9154803,7809086,11389730,16803888,14724584,14654780,10882715,9523700,10402467,15854902,11786539,10334923,12581858,15469846,15664191,9516482,8637706,7689150,11585923,8307946,7523381,10712923,11709168,11857081,14622581,15451670,15688026,16301319,16316996,16810318,17260967,17380122,17533377,17540175,19062714,19295453,19420344,19438459,19494114,19543317,19596959,19638574,19638615,19681119,19723872,19752775,19787260,19787272,19802010,19802012,19815050,19849697,19855393,19855428,19888426,19890398,19936293,19966300,20042089,20046837,20108024,20147967,20150643,20184776,20354187,20406971,20437058,20526288,2122974,8332187,8332195,9054499,9069267,9261098,9297626,9765203,20173673,20871217,20012784,20828432,20503341,20579853,20720444,20937837,20413844,20489206,20515613,20569235,20581865,20581871,20729618,20676142 2314833,2314834,2314836,2314838,2314840,2314841,2314832,1358733 3265 NM_005343,NM_176795,NG_007666,AC137894,AF375987,CH471158,EF015887,J00277,K00654,M17232,M19990,M25876,M30539,X01227,X16438,AB451336,AB451485,AF493916,AJ437024,BC006499,BC095471,BM801632,BQ574535,BQ674260,BT019421,CR536579,CR542271,DN990077,NM_001130442,CS566142,HD032931 Q96T27,Q9BR65,NP_001123914,NP_005334,NP_789765,AAK56963,EAX02337,EAX02338,EAX02339,EAX02340,EAX02341,ABI97389,AAB02605,AAA35687,AAA35685,AAA52693,AAA35683,AAA36557,CAA25624,CAA34461,BAG70150,BAG70299,AAM12630,CAD24594,AAH06499,AAH95471,AAV38228,CAG38816,CAG47067,P01112,P78460,Q14007,Q92468,CAN37622,CBV35641 Hs.37003 C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|K-RAS|N-RAS|RASH1 GTP- and GDP-binding peptide B|GTPase HRas|H-Ras-1|Ha-Ras1 proto-oncoprotein|OTTHUMP00000162769|OTTHUMP00000166053|OTTHUMP00000166055|Ras family small GTP binding protein H-Ras|c-has/bas p21 protein|c-ras-Ki-2 activated oncogene|ha-Ras|p19 H-RasIDX protein|p21ras|transformation gene: oncogene HAMSV|transforming protein p21 protein-coding 1319850 HRASLS HRAS-like suppressor 20837014,12477932,11474175,10542256,9771974 57110 NM_020386,AC092966,AC105057,CH471052,AB030816,AY251533,BC048095,BX098792,AB510981 NP_065119,EAW78078,EAW78079,BAB08110,AAP20056,AAH48095,Q6X7C0,Q86WS9,Q9HDD0,BAI63210 Hs.36761 A-C1|H-REV107|HRASLS1|HSD28 H-REV107 protein-related protein|HRAS-like suppressor|phospholipase A protein-coding 1344464 HRASLS2 HRAS-like suppressor 2 18163183,14702039,19615464,19913121,20628086 54979 NM_017878,AP001591,CH471076,AB453251,AK000563 NP_060348,EAW74157,BAH22445,BAA91256,Q9NWW9,AAI52863 Hs.272805 FLJ20556|PLA1/2-2 HRAS-like suppressor 2 protein-coding 1606473 HRASLS5 HRAS-like suppressor family, member 5 19000777,17158102,14702039,12477932,17207965 117245 DB460110,NM_001146728,NM_001146729,AP000484,AP001591,CH471076,AB298804,AI208471,AJ416558,AK055392,AK302312,BC034222,NM_054108 AAH34222,Q8NE88,Q96KN8,NP_473449,NP_001140200,NP_001140201,EAW74149,EAW74150,BAH08633,CAC94942,BAG63650,ADQ32507 Hs.410316 HRLP5|RLP1|iNAT H-rev107-like protein 5|HRAS-like suppressor 5|calcium-independent phosphatidylethanolamine N-acyltransferase|lecithin-retinol acyltransferase (LRAT)-like protein-1 protein-coding 1343095 HRC histidine rich calcium binding protein This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq] 1580863 2037293,18029348,18617481,17526652,15489334,15191886,15082771,12543931,12488461,12480542,12477932,11741309,11504710,10462052,2498310 3270 NM_002152,AC008891,CH471177,FJ000070,AK300706,BC069795,BC069802,BC094691,BC112355,M60052 NP_002143,EAW52458,EAW52459,ACH88003,BAG62385,AAH69795,AAH69802,AAH94691,AAI12356,AAA88071,P23327,Q2M1I0,Q6ZP78 Hs.436885 MGC133236 sarcoplasmic reticulum histidine-rich calcium-binding protein protein-coding 2301113 HRCT1 histidine rich carboxyl terminus 1 12975309 646962 NM_001039792,AL135841,AY358408 NP_001034881,AAQ88774,Q6UXD1,CAX15137 Hs.208081 LGLL338|PRO537|RP11-327L3.6|UNQ338 histidine-rich carboxyl terminus protein 1 protein-coding 1346832 HRD hypoparathyroidism, growth and mental retardation, and dysmorphism 9634513 3271 1348901 HRES1 HTLV-1 related endogenous sequence 1783388 3272 NM_001007238,X16660 736906 HRG histidine-rich glycoprotein This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq] 1599656,1580863 6414553,14718574,19285951,17229145,16436387,16335952,16107330,15489334,15269838,15220341,15138272,12764609,12477932,12391183,10514432,10421785,10050040,9414276,9276466,9184145,8478593,8478589,8348977,8188234,6438154,4116337,3958188,3819648,3011081,2566603,2524479,2347592,1678514,1561009,1459097,20573803,19913121,20628086,19674792,19712047,20071662,20237496,20303064 1599656 3273 NM_000412,AB005803,AC109780,CH471052,Z17218,AI800281,AK313381,BC069574,BC150591,CR749302,M13149,NG_021485 NP_000403,BAA21613,EAW78183,EAW78184,CAA78925,BAG36179,AAH69574,AAI50592,CAH18157,AAA52694,P04196,Q68DR3 Hs.1498 DKFZp779H1622|HPRG|HRGP histidine-proline-rich glycoprotein|histidine-rich glycoprotein protein-coding 736085 HRH1 histamine receptor H1 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene was thought to be intronless until recently. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 2670975,7925364,10818238,8280179,19443731,19193342,19156168,18814859,18682391,18548114,18511496,18498711,18446005,18366640,18345497,18258331,17637176,17627982,17547532,17517105,17243823,17122961,16888049,16760260,16705383,16547808,16491014,16484687,16408006,16344560,16027157,15953854,15928843,15928828,15820830,15542600,15342556,15328002,12757445,12755404,12680587,12477932,12429384,12218662,11994709,11898002,11603849,10973974,10569698,9794809,9311023,8666296,8590995,8045566,8003029,2891264,2886904,18240029,19271144,19913013,20237496,18029348,20800603,18577758,16754659,19913121,20602615,20628086 3269 AK292157,AK312879,AY136743,BC060802,BM905371,BP366267,D28481,DA372691,DB073635,DC300229,Z34897,AK289412,NM_001098213,NM_001098212,NM_001098211,NM_000861,AB041380,AC083855,AF420434,AJ000742,CH471055,D14436,U37761,X76786,AF026261 BAF82101,BAF84846,BAG35729,AAN01269,AAH60802,BAA05840,CAA84380,P35367,NP_001091683,NP_001091682,NP_001091681,NP_000852,BAA94465,CAA04289,EAW64092,BAA03319,AAD14833,CAA54182,AAB95156 Hs.1570 H1-R|hisH1 H1R|HH1R|OTTHUMP00000160133|OTTHUMP00000209395|histamine H(1) receptor|histamine H1 receptor|histamine receptor h 1|histamine receptor, subclass H1 protein-coding 735725 HRH2 histamine receptor H2 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18802338,18691388,18617631,18258331,17627982,17347323,16888049,16203768,15961859,15953854,15928843,15848191,15820830,15191551,15167968,15086532,14523557,12824943,12757445,12680587,12477932,12429384,11898002,11728449,11641433,11603849,11466390,10837353,10371214,9374694,9311023,8817552,7794271,7755641,7575521,7511596,9725260,1714721,19193342,19156168,19026982,20012462,18240029,20237496,12036966,19913121,20602615,20628086 3274 NM_001131055,AB023486,AB041384,AC010219,CH471062,D49783,M64799,X98133,AB023487,AB451483,AY136744,BC054510,CF147823,NM_022304 NP_071640,NP_001124527,BAA84279,BAA94469,EAW61369,BAA08618,AAA58647,CAA66832,BAG70297,AAN01270,AAH54510,P25021,Q7Z5R9 Hs.247885 H2R HH2R|gastric receptor 1|gastric receptor I|histamine H2 receptor|histamine receptor h 2 protein-coding 732356 HRH3 histamine receptor H3 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq] 1626428,1626432,1626433,1626431,1626405,1626416,1626418,1626421,1626426,1626408,1626409,1626425,1580863 15597144,20602615,17561422,16565470,15665857,15489334,15191551,12971961,12477932,12069903,11956964,11780052,11752397,11284713,11118334,10637648,9670104,9311023,20864503,18577758,17627982,10347254,19413576,19413572,19193342,19156168,18996102,18802338,18564330,18345506,18240029,19824886,19825989 1626428,1626432,1626433,1626431,1626405,1626416,1626418,1626421,1626426,1626408,1626409,1626425 11255 AB019000,NM_007232,AJ278250,AJ296652,AL078633,CH471077,AF140538,AF321910,AF321911,AF321912,AF321913,AF346903,AF346904,AF363791,AK074730,BC096840 NP_009163,CAC39434,CAC51025,CAC04014,EAW75381,EAW75382,EAW75383,EAW75384,EAW75385,AAD38151,BAB17030,AAL71911,AAL71912,AAL71913,AAL71914,AAM43828,AAM43829,AAK50040,BAC11167,AAH96840,Q548M6,Q8NCH4,Q8NI49,Q8NI50,Q8WXZ9,Q8WY00,Q8WY01,Q9Y5N1 Hs.251399 GPCR97|HH3R G protein-coupled receptor 97|G-protein coupled receptor 97|H3R|histamine H3 receptor protein-coding 735405 HRH4 histamine receptor H4 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10973974,11118334,19281909,19166345,19156168,19053770,19046950,18635748,18582456,18572901,18452403,18345506,18345495,18345487,18258331,18239617,17978505,17806182,17806168,17681365,17627982,17507084,16547812,16547802,16203768,15489334,15265943,15191551,12477932,11394877,11181941,11179436,11179435,11179434,18240029,19271148,19662098,20192225,20199554,20237496,18577758,19958313,20800603,20618322 59340 NM_021624,NM_001143828,NM_001160166,AC007922,CH471088,EF444982,AB044934,AB045370,AF307973,AF312230,AF325356,AF329449,AJ298292,AY008280,AY136745,BC069136,BC112348,DQ835186,DQ835187 NP_067637,NP_001137300,NP_001153638,EAX01189,ACA05997,BAB13698,BAB20091,AAG32052,AAK12081,AAL01684,AAK43542,CAC83493,AAL09297,AAN01271,AAH69136,AAI12349,ABI54174,ABI54175,Q96LD9,Q9H3N8 Hs.287388 AXOR35|BG26|GPCR105|GPRv53|H4|H4R|HH4R|MGC133027 G-protein coupled receptor 105|SP9144|histamine H4 receptor|histamine h4 receptor|pfi-013 protein-coding 731025 HRK harakiri, BCL2 interacting protein (contains only BH3 domain) Activator of apoptosis Hrk regulates apoptosis through interaction with death-repressor proteins Bcl-2 and Bcl-X(L). The HRK protein lacks significant homology to other BCL2 family members except for an 8-amino acid region that was similar to the BCL2 homology domain-3 (BH3) motif of BIK. HRK interacts with BCL2 and BCLXL via the BH3 domain, but not with the death-promoting BCL2-related proteins BAX, BAK, or BCLXS. HRK localizes to membranes of intracellular organelles in a pattern similar to that previously reported for BCL2 and BCLXL. [provided by RefSeq] 70327,2290488,2314029,1580863 15694340,16697956,9130713,18037991,18008329,15031724,14695142,14596824,12606589,12477932,12217801,11796190,11483855,11331593,11076863,10075695,9228060,15721256,19641496,20379614,20855536 70327,2290488,2314029 8739 NM_003806,AC083806,CH471054,D83699,U76376 NP_003797,EAW98093,AAC34931,O00198,AAI11924 Hs.87247 DP5|HARAKIRI BCL2-interacting protein|BH3-interacting domain-containing protein 3|activator of apoptosis Hrk|activator of apoptosis harakiri|death protein 5|neuronal death protein DP5 protein-coding 1349514 HRMT1L5 HMT1 hnRNP methyltransferase-like 5 (S. cerevisiae) 415048 1603898 HRNBP3 hexaribonucleotide binding protein 3 16260614,14702039,12477932,11181995,8889548,19713214,20379614 146713 NM_001082575,AC020689,AC021534,AC055858,AC073624,CH471099,AK054893,AK124644,AK128131,AK293617,AK293905,BC093713,BM714144,BU741507,BX452143,DN990270 NP_001076044,EAW89563,EAW89564,BAG57077,BAG57290,AAH93713,A6NFN3,Q4G0H5 Hs.135229 FLJ56884|FLJ58356|FOX-3|FOX3|HRNBP3|NEUN OTTHUMP00000196558|fox-1 homolog C|hexaribonucleotide binding protein 3|hypothetical protein loc146713|neuronal nuclei protein-coding 1603472 HRNR hornerin 19020553,16710414,15507446,17353931,17643375,19601998 388697 AY396741,BR000036,NM_001009931,AL589986,AB104446,AB180729 AAR91619,FAA00004,Q5DT20,Q5W8V9,Q86YZ3,BAD67177,NP_001009931,CAH70026,BAC57496 Hs.490162 S100A16|S100a18 hornerin|intermediate filament-associated protein protein-coding 1351385 HRPT1 hyperparathyroidism 1 3278 1343199 HRSP12 heat-responsive protein 12 1580863 8530410,16198412,15489334,14997576,12477932,10961346,10400702,9767104,9463573,9405234,8973653,18029348,20877624,18276110 10247 NM_005836,AP003439,AY026764,CH471060,CS185579,BC010280,BC012592,BC093059,BX348173,CR456844,CR541652,CR619148,D62115,X95384 NP_005827,AAK01939,EAW91774,EAW91775,CAJ42760,AAH10280,AAH12592,AAH93059,CAG33125,CAG46453,CAA64670,P52758,Q6IBG0,ABM83723,ABM87043 Hs.18426 P14.5|PSP|UK114 14.5 kDa translational inhibitor protein|UK114 antigen homolog|perchloric acid-soluble protein|ribonuclease UK114|translational inhibitor p14.5|translational inhibitor protein p14.5 protein-coding 1602467 HS1BP3 HCLS1 binding protein 3 The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq] 19524641,16116142,15699368,14702039,12477932,10590261,8889549 64342 NM_022460,AC012065,CH471053,AK024311,AK123411,AK314383,BC027947,BC038847,BC050636,BC057389,BG753647,BX354596,CR596701,N62141 NP_071905,AAX93235,EAX00812,EAX00813,EAX00814,EAX00815,EAX00816,EAX00817,BAB14878,BAG37009,AAH50636,Q53T59,Q9H7U7 Hs.531785 ETM2|FLJ14249|HS1-BP3 HCLS1-binding protein 3|HS1-binding protein 3|HSP1BP-3 protein-coding 1313348 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq] 17227754,16710414,15489334,15317737,14702039,12477932,10731680,10677367,9455484,20379614,21048031 9653 NM_001134492,AC093155,AL121989,CH471097,AB007917,AB024568,AF086247,AK023260,BC025384,BC025990,BC108735,BF431947,NM_012262,AL139139 NP_036394,NP_001127964,CAC04187,EAW73170,EAW73171,EAW73172,EAW73173,BAA32293,BAA89250,BAG51177,AAH25384,AAH25990,AAI08736,Q7LGA3,CAI19004 Hs.726055 FLJ11317|KIAA0448|MGC131986|dJ604K5.2 2-O-sulfotransferase|2OST|heparan sulfate 2-O-sulfotransferase 1 protein-coding 731446 HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq] 1580863 17207965,9988767,9346953,18029348,15489334,15096036,14702039,12477932,11006120,9988768,8900198,7744762 9957 NM_005114,AC006230,CH471069,AA825270,AF019386,AI478981,AK096823,BC025735,BC057803,BM547276 ADQ33038,NP_005105,EAW92699,EAW92700,EAW92701,EAW92702,AAB84388,BAG53368,AAH25735,AAH57803,O14792,Q05CH3 Hs.507348,Hs.605349 3OST|3OST1 3-OST-1|OTTHUMP00000218044|OTTHUMP00000218045|h3-OST-1|heparan sulfate 3-O-sulfotransferase 1|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1|heparan sulfate glucosamine 3-O-sulfotransferase 1|heparin-glucosamine 3-O-sulfotransferase protein-coding 1346040 HS3ST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq] 1580863,2317633 9988767,18757372,17482450,16336986,15489334,12975309,12527896,12477932,9988768,7744762,19850283,20379614 2317633 9956 AC027102,AC130450,AC130466,CH471145,AB209794,AF105374,AF105375,AK313463,AY359095,BC093734,NM_006043,BC093736,CR620513 NP_006034,EAW55840,BAD93031,AAD30206,AAD30207,BAG36249,AAQ89453,AAH93734,AAH93736,Q59EL7,Q9Y278 Hs.115830,Hs.727158 30ST2|3OST2 3-OST-2|h3-OST-2|heparan sulfate 3-O-sulfotransferase 2|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2|heparan sulfate glucosamine 3-O-sulfotransferase 2|heparin-glucosamine 3-O-sulfotransferase protein-coding 1322170 HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq] 1580863 10520990,9988768,7744762,9988767,17903302,15489334,15304505,12975309,12477932,12384783,10608887,20487506 9955 NM_006042,AC005375,AC005411,CH471108,AF105376,AK292047,AY358838,BC044647 NP_006033,EAW89959,AAD30208,BAF84736,AAQ89197,AAH44647,Q9Y663 Hs.724020 30ST3A1|3OST3A1 3-OST-3A|h3-OST-3A|heparan sulfate 3-O-sulfotransferase 3A1|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1|heparan sulfate glucosamine 3-O-sulfotransferase 3A1|heparin-glucosamine 3-O-sulfotransferase protein-coding 1354172 HS3ST3A2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A2 9988767 9954 1316454 HS3ST3B1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq] 1580863 20797317,10520990,9988768,20705311,9988767,18464913,15489334,15304505,14702039,12477932,12384783,7744762 9953 NM_006041,AC005224,CH471108,AF105377,AK023723,BC063301,BC069664,BC069725 NP_006032,EAW89953,EAW89954,AAD30209,BAG51220,AAH63301,AAH69664,AAH69725,Q9Y662 Hs.48384 30ST3B1|3OST3B1 3-OST-3B|h3-OST-3B|heparan sulfate 3-O-sulfotransferase 3B1|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1|heparan sulfate glucosamine 3-O-sulfotransferase 3B1 protein-coding 1350015 HS3ST3B2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B2 9988767 9952 1352921 HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq] 9988767,18757372,17482450,16259945,12080045,20379614 9951 NM_006040,NG_005591,AC092141,AC093509,AC093511,AC093516,AC093524,AY476736,CH471145,AF105378,AL834283,EF063601,EF063602,EF063603,EF063604,EF063605,EF063606,EF063607,EF063608 NP_006031,AAS58324,EAW55764,AAD30210,CAD38957,ABN79912,ABN79913,ABN79914,ABN79915,ABN79916,ABN79917,ABN79918,ABN79919,Q9Y661,AAI56388,AAI57118 Hs.711140 3-OST-4|30ST4|3OST4 h3-OST-4|heparan sulfate 3-O-sulfotransferase 4|heparan sulfate 3-O-sulfotransferase-4|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4|heparan sulfate glucosamine 3-O-sulfotransferase 4 protein-coding 1314962 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM] 1580863 12477932,12740361,12138164,18978678,16099108,15489334,15026143,14702039 222537 NM_153612,AL355498,CH471051,AB074164,AF503292,AK091074,AK126930,AK289907,BC093911,BC093913 EAW48251,BAE45734,AAN37737,BAF82596,AAH93911,AAH93913,Q3LID4,Q8IZT8,NP_705840 Hs.645477 3-OST-5|3OST5|HS3OST5|NBLA04021 Nbla04021 product-like|h3-OST-5|heparan sulfate 3-O-sulfotransferase 5|heparan sulfate 3-OST-5|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5|heparan sulfate glucosamine 3-O-sulfotransferase 5 protein-coding 1344226 HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 1580863 15616553,15303968,12907690,12740361,12138164,11157797 64711 NM_001009606,AE006640,AL031723,CH471112 NP_001009606,AAK61299,CAC42157,EAW85602,EAW85603,Q96QI5,AAI56439,AAI72540 Hs.670144 HS3ST5 3-OST-6|OTTHUMP00000045529|h3-OST-6|heparan sulfate (glucosamine) 3-O-sulfotransferase 5|heparan sulfate 3-O-sulfotransferase 6|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 6|heparan sulfate glucosamine 3-O-sulfotransferase 6|heparan sulphate D-glucosaminyl 3-O-sulfotransferase-3B like protein-coding 1319437 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq] 1580863 9535912,15815621,15489334,15342556,12492399,12477932,20379614 9394 CH471103,AB006179,AK058121,AL831893,BC001196,BC019025,BC047087,BC063521,BC096239,BC096240,BC099638,BC099639,CV569969,DR005030,NM_004807,AC017079,BP219645 AAY14736,EAW95357,EAW95358,EAW95359,BAA25760,AAH01196,AAH96239,AAH96240,AAH99638,AAH99639,O60243,NP_004798 Hs.512841 DKFZp547H098|FLJ25392|HS6ST|MGC116899|MGC116901 HS6ST-1|heparan-sulfate 6-O-sulfotransferase 1|heparan-sulfate 6-sulfotransferase protein-coding 1346869 HS6ST1P heparan sulfate 6-O-sulfotransferase 1 pseudogene 388605 NG_005670,AL592309 HS6ST1P pseudo 1605906 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 10644753,16303743,15772651,15489334,14702039,12492399,12477932 90161 NM_147175,NG_012840,Z82205,NM_001077188,AL022159,AL022309,Z86064,AB067776,AB067777,AI253113,AK027720,AK056706,AK075402,AK295041,AK295118,AK298956,AL049679,AL831923,BC037325,BC094718,BC110620,BC110621 NP_671704,NP_001070656,CAI42774,CAI42775,BAC07183,BAC07184,BAB55322,BAB71260,BAC11597,BAH11957,BAH11981,BAH12912,CAB41248,CAD38583,AAH37325,AAH94718,AAI10621,AAI10622,Q96MM7,Q9Y3P2 Hs.385956 MGC130022|MGC130023 HS6ST-2|OTTHUMP00000211170|heparan-sulfate 6-O-sulfotransferase 2 protein-coding 1314189 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM] 1580863 14702039,12477932,11991713,10644753,15226404,15057823,20379614 266722 NM_153456,AL138816,AL139087,AL158192,AL159979,AL160253,AL353581,AL356098,CH471085,AF339796,AF339824,AF539426,AK091343,AK124236,AK126947,BC037795,CR749677,XM_003119560 NP_703157,CAH71574,CAI13709,EAX08963,AAN33062,BAG54407,CAH18468,Q8IZP7,AAI56338,AAI57126,XP_003119608 Hs.171001 DKFZp761K2315 HS6ST-3|heparan-sulfate 6-O-sulfotransferase 3 protein-coding 736685 HSBP1 heat shock factor binding protein 1 The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq] 1580863 15489334,12477932,11679589,9493008,20562859,9649501,18767159,16303743,16189514 3281 NM_001537,AC009119,CH471114,AF068754,AK026575,AK172732,AY320409,BC007515,BX366956,BX537440,BX648972,CR590813,CR592902,CR603985,CR605356,CR606398,CR608180,CR613945,CR617031,CR617568,CR623333,CR626052,CR626207 NP_001528,EAW95514,AAC25186,AAP73809,AAH07515,CAD97682,O75506,ACE86514 Hs.250899,Hs.705549 DKFZp686D1664|DKFZp686O24200|NPC-A-13 heat shock factor-binding protein 1|nasopharyngeal carcinoma-associated antigen 13 protein-coding 2902676 HSBP1L1 heat shock factor binding protein 1-like 1 12477932,14702039,16344560 440498 AC090360,AC114341,AK001829,BC017654,BC040056,BC157848,CA444419,CH471117,CR619894,DA919112,NM_001136180 AAI57849,C9JCN9,EAW66638,NP_001129652 Hs.191582 FLJ10967|MGC189743 heat shock factor binding protein 1-like|heat shock factor-binding protein 1-like protein 1 protein-coding 1348838 HSBP1P1 heat shock factor binding protein 1 pseudogene 1 326296 NG_002548,AL139021 pseudo 2902401 HSBP1P2 heat shock factor binding protein 1 pseudogene 2 9847074 100288483 AC108145,NG_012919 pseudo 1602295 HSCB HscB iron-sulfur cluster co-chaperone homolog (E. coli) 12938016,18713742,16952052,15489334,15461802,12477932,10591208,20729852,20668094,20877624 150274 NM_172002,AL023494,AL117330,CH471095,AY191719,BC065569,CR456462 NP_741999,CAI20339,CAH73876,EAW59758,EAW59759,EAW59760,AAN85282,AAH65569,CAG30348,Q8IWL3 Hs.632780 DNAJC20|HSC20|JAC1|MGC2637|MGC74462|dJ366L4.2 DnaJ (Hsp40) homolog, subfamily C, member 20|J-type co-chaperone HSC20|dnaJ homolog subfamily C member 20|iron-sulfur cluster co-chaperone protein HscB, mitochondrial protein-coding 737091 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1300048,1625067,1625071,1625075,1331525 12414862,12390875,12202416,12109593,11956655,11755176,11114699,10962348,10645953,10497258,10497248,9543163,9034789,7670488,7545619,9555943,18592327,18665910,19235128,19535162,19540999,19542242,19549748,19564704,19567539,19571556,19598235,19651257,19675138,19690925,19876004,19880789,19934376,20041117,20045052,20100573,20214802,20416077,20486282,20140262,15583024,1885595,19527514,19491387,19453261,19429429,19336370,19282465,19251840,19167490,19158196,19129713,19121282,19088256,19027726,19022912,19022342,19019335,19010388,18963204,18837961,18818748,18778749,18769825,18716005,18633104,18611262,18573267,18434359,18388900,18379559,18313835,18261751,18031327,17922306,17912154,17825335,17766714,17588937,17519316,17495191,17467270,17306259,17062770,17032748,16996097,16914598,16855188,16710414,16622297,16603347,16580270,16551740,16469798,16412558,16406280,16368752,16343739,16236446,16091483,15941907,15855321,15827106,15591536,15536220,15513927,15489334,15466942,15455200,15452033,15280030,15181046,15172126,15167446,15156315,15152005,15095019,14742837,14682470,14583441,14557491,12960005,12915696,12915682,12861241,12858176,12788882,12530692,12530648,12477932,20739946,20826586,19913121,20628086,20800085 1625067,1625071,1625075,1331525 3290 NM_181755,NM_005525,NG_012081,AL022398,AL031316,AY044084,CH471100,M76661,M76662,M76663,M76664,M76665,AK313973,BC012593,BG619051,BM994393,CR594617,CR603384,CR609467,CR618163,CR622047 NP_861420,NP_005516,CAA18541,CAI20063,AAK83653,EAW93445,EAW93446,AAC31757,BAG36688,AAH12593,P28845,ABM83838,ABW03522 Hs.195040 11-DH|11-beta-HSD1|HDL|HSD11|HSD11B|HSD11L|MGC13539|SDR26C1 11-beta-hydroxysteroid dehydrogenase 1|OTTHUMP00000034650|corticosteroid 11-beta-dehydrogenase isozyme 1|hydroxysteroid 11-beta dehydrogenase 1|short chain dehydrogenase/reductase family 26C, member 1 protein-coding 1605800 HSD11B1L hydroxysteroid (11-beta) dehydrogenase 1-like 15342248,12477932,19436836 374875 BC053546,BC062777,BC072434,BC093950,BC094798,BC112187,CR607228,CR622145,NM_198705,NM_198704,NM_198533,NM_198707,NM_198706,NM_198708,AC011499,CH471139,AK308206,AY268351,AY268352,AY268353,AY268354,AY313894,AY313895,AY313896,BC018336 AAH18336,AAH53546,AAH72434,AAH93950,AAI12188,Q7Z5J1,AAI52754,NP_941994,NP_941993,NP_940935,NP_941996,NP_941995,NP_941997,EAW69156,EAW69157,AAP42285,AAP42286,AAP42287,AAP42288,AAP83166,AAP83167,AAP83168 Hs.631840 SCDR10|SDR26C2 11-DH3|11-beta-HSD3|11-beta-hydroxysteroid dehydrogenase type 3|hydroxysteroid 11-beta-dehydrogenase 1-like protein|short chain dehydrogenase/reductase 10|short chain dehydrogenase/reductase family 26C, member 2|short-chain dehydrogenase/reductase 10 protein-coding 737468 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 1625083,2308925,2308939,2308941,2308922,2308923,2308924,2308940,1300048,1625078,1580863 18061258,18032417,17551100,17519316,17515840,17028049,16979406,16872738,16804865,16778331,16406280,16272800,16271275,16144812,16109323,16061836,15673310,15643127,15643119,15591138,15489962,15489334,15466942,7859916,19535674,19336370,19218882,19150652,19048413,19027726,19022342,18837962,18716005,18573267,18456686,18421276,18408592,18388900,18378698,18178212,15305225,15172126,15167446,14981055,14681848,14629298,12911547,12860834,12788846,12788832,12642869,12574226,12519895,12477932,12417987,12364476,12161498,12109593,12015312,11956655,11916625,11850421,11787058,11755176,11711524,11350956,11238516,10948076,10523339,10489390,9851783,9707624,9661590,9398712,9034789,8611186,8611140,8547170,8530071,7670488,7656579,7608290,7593417,2889032,2845584,9683587,19909806,20571110,20624455,19292059,19542242,19811365,19880179,20214802,20486282,20800085,20597806 1625083,2308925,2308939,2308941,2308922,2308923,2308924,2308940,1625078 3291 NM_000196,AC009061,AY046280,CH471092,EF694683,FJ515828,U27317,BC036780,BC064536,CR599954,CR623797,CR626533,U14631,U26726,NG_016549 NP_000187,AAK91586,EAW83134,ABS29267,ACS13714,AAB48544,AAH36780,AAH64536,AAA91969,AAC50356,P80365 Hs.1376 AME|AME1|HSD11K|HSD2|SDR9C3 11-DH2|11-beta-HSD2|11-beta-hydroxysteroid dehydrogenase type 2|NAD-dependent 11-beta-hydroxysteroid dehydrogenase|corticosteroid 11-beta-dehydrogenase isozyme 2|hydroxysteroid 11-beta dehydrogenase 2|short chain dehydrogenase/reductase family 9C member 3 protein-coding 736216 HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 1580863,1300048,4890946,4889549 19170196,19401349,19556422,19574343,19625176,19627379,19630952,19679043,19692168,19776291,19929851,20151319,20151320,20193327,20214802,20381444,20382160,20432167,20453000,20729390,20734064,8547176,19453261,19429452,19429442,19415745,19061935,19050176,19027726,19015200,18984855,18843021,18820009,18817841,18676680,18636124,18593984,18483327,18467089,18415690,18086758,18083510,17953976,17588204,17507624,17457667,17454161,17301695,17110639,16969494,16954436,16949391,16896040,16489054,16480815,16467490,16311626,16260521,15733111,15640252,15489334,15241822,14973105,18723074,14966133,12584742,12527905,12519881,12519880,12490543,12477932,12223444,11212283,10625652,10460007,9927655,9525918,9435439,8855807,8805577,8756321,8703123,8389226,8206323,7663947,7648200,7626483,6578212,5045524,4719204,2846351,2779584,2584224,2547159,2330005,2197970,1977681,1327779,20172961,20586553,20634197,15583024,19027824 4890946,4889549 3292 NM_000413,AC067852,CH471152,M27138,M29037,M84472,U34879,AK127832,AK300143,AK300159,AK300452,AK316292,BC019592,BC033110,BC037415,BC104752,BF112114,BQ575124,CR597719,CR602152,CR606541,CR608305,CR610391,CR611891,CR612773,CR614131,CR614494,CR615508,CR616431,CR617984,CR620160,CR623810,DQ469954,M36263,X13440,BC111935 NP_000404,EAW60836,AAB16941,AAB17014,AAB16942,AAD05019,BAG54583,BAG61929,BAG61942,BAG62173,BAH14663,AAH33110,AAI04753,AAI11936,ABF13478,AAA35600,CAA31792,P14061,Q13034,Q8N512 Hs.654385,Hs.655222 EDH17B2|EDHB17|HSD17|MGC138140|SDR28C1 17-beta-HSD 1|17-beta-hydroxysteroid dehydrogenase type 1|20 alpha-hydroxysteroid dehydrogenase|20-alpha-HSD|E2DH|estradiol 17-beta-dehydrogenase 1|estradiol 17-beta-dehydrogenase-1|hydroxysteroid (17-beta) dehydrogenase 1 isoform|hydroxysteroid 17-beta dehydrogenase 1|placental 17-beta-hydroxysteroid dehydrogenase|short chain dehydrogenase/reductase family 28CE, member 1 1643462,2289501,2289511 BW108_H,BW444_H,BW453_H protein-coding 732223 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq] 1358426,704404,1580863,1300048 20638476,9553139,9338779,18984158,19449377,19422801,19343046,19027726,18765932,18692800,18252223,17917077,17707551,17618155,17236142,16899120,16344560,16176262,16148061,16021519,15804423,15665036,15489334,15342248,15087549,14672739,12917011,12696021,12477932,11869808,11559359,11430884,11403151,10600649,10371197,10329704,9890977,9851691,9712734,9671743,9061028,8687463,19601895,19706438,19735314,19756307,20077426 1358426 3028 NM_004493,NM_001037811,NG_008153,AF037438,CH471154,Z97054,AF035555,AF069134,AU132847,AY092415,BC000372,BC000829,BC008708,CR456723,CR599230,CR600470,CR603411,CR615410,CR622026,CR622206,CR624141,U73514,U96132 NP_004484,NP_001032900,AAC16419,EAW93157,EAW93158,EAW93159,CAI42651,CAI42652,CAI42653,AAC15902,AAC39900,AAM18189,AAH00372,AAH08708,CAG33004,AAB68958,AAC51812,Q5H928,Q6IBS9,Q99714 Hs.171280 17b-HSD10|ABAD|CAMR|DUPXp11.22|ERAB|HADH2|HCD2|MHBD|MRPP2|MRX17|MRX31|MRXS10|SCHAD|SDR5C1 3-hydroxy-2-methylbutyryl-CoA dehydrogenase|3-hydroxyacyl-CoA dehydrogenase type-2|AB-binding alcohol dehydrogenase|amyloid-beta peptide binding alcohol dehydrogenase|endoplasmic reticulum-associated amyloid beta-peptide-binding protein|mitochondrial ribonuclease P protein 2|short chain L-3-hydroxyacyl-CoA dehydrogenase type 2|short chain dehydrogenase/reductase family 5C, member 1|short chain type dehydrogenase/reductase XH98G2 protein-coding 1352920 HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11 1580863 18804447,16344560,16303743,15489334,14996095,12975309,12477932,11165019,10800688,9888557,18029348,19469652,12697717,19027726,16712791 51170 NM_016245,AC108516,AY062939,CH471057,AF126780,AF273056,AK075348,AY358553,BC008650,BC011995,BC014327,BC016367,BC021673,BC036001,CA775960,CB163647,CR590939,CR598640,CR602713,CR603100,CR607201,DA265697 NP_057329,AAL48315,EAX05987,AAF06939,AAM44459,BAC11560,AAQ88917,AAH08650,AAH14327,AAH16367,AAH21673,AAH36001,Q8NBQ5 Hs.594923 17BHSD11|DHRS8|PAN1B|RETSDR2|SDR16C2 17-BETA-HSD11|17-BETA-HSDXI|17-beta-HSD 11|17-beta-HSD XI|17-beta-hydroxysteroid dehydrogenase 11|17-beta-hydroxysteroid dehydrogenase XI|17-beta-hydroxysteroid dehydrogenase type XI|CTCL tumor antigen HD-CL-03|CTCL-associated antigen HD-CL-03|OTTHUMP00000219651|T-cell lymphoma-associated antigen HD-CL-03|cutaneous T-cell lymphoma-associated antigen HD-CL-03|dehydrogenase/reductase (SDR family) member 8|dehydrogenase/reductase (sdr family) member 8|dehydrogenase/reductase SDR family member 8|estradiol 17-beta-dehydrogenase 11|retinal short-chain dehydrogenase/reductase 2|short chain dehydrogenase/reductase family 16C, member 2 protein-coding 1346748 HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 The enzyme 17-beta hydroxysteroid dehydrogenase-12 (HSD17B12) uses NADPH to reduce 3-ketoacyl-CoA to 3-hydroxyacyl-CoA during the second step of fatty acid elongation.[supplied by OMIM] 19533843,19429442,19190350,19027726,16621523,16166196,16113833,15489334,15342556,14702039,12482854,12477932,9373149,8125298,8944226,19460435,20562859,20677014 51144 NM_016142,AC068205,AC087521,CH471064,CQ783872,CQ783997,AF078850,AK027882,AK074952,AK075011,AK075216,AK092938,AK222881,AK292625,AK301663,BC012043,BC012536,BP359822,BX537496 NP_057226,EAW68080,EAW68081,EAW68082,EAW68083,EAW68084,EAW68085,EAW68086,EAW68087,EAW68088,EAW68089,CAF86901,CAF86962,AAD44482,BAG52039,BAG52052,BAG52086,BAD96601,BAF85314,BAG63138,AAH12043,AAH12536,Q53GQ0,Q96EA9,ABW03509 Hs.132513 KAR|SDR12C1 17-beta-HSD 12|17-beta-hydroxysteroid dehydrogenase 12|17beta-HSD type 12|3-ketoacyl-CoA reductase|estradiol 17-beta-dehydrogenase 12|short chain dehydrogenase/reductase family 12C, member 1|steroid dehydrogenase homolog protein-coding 1342842 HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13 12477932,19027726,17311113,15489334,15221005,12975309 345275 NM_001136230,NM_178135,AC108516,CH471057,AB073347,AK292784,AY186249,AY186250,AY268355,AY358575,BC112303,BC112305,DR004209 NP_001129702,NP_835236,EAX05985,EAX05986,BAD38632,BAF85473,AAO72313,AAO72314,AAP42289,AAQ88938,AAI12304,AAI12306,Q7Z5P4,ADR83118 Hs.284414 HMFN0376|MGC138508|MGC138510|NIIL497|SCDR9|SDR16C3 17-beta hydroxysteroid dehydrogenase|17-beta-HSD 13|17-beta-hydroxysteroid dehydrogenase 13|short chain dehydrogenase/reductase family 16C, member 3|short-chain dehydrogenase/reductase 9 protein-coding 1312097 HSD17B14 hydroxysteroid (17-beta) dehydrogenase 14 737633,1580863 17207965,18029348,17067289,19027726,16189514,15489334,12975309,12477932,10800688,19060904 737633 51171 NM_016246,AC026803,CH471177,AF126781,AK307437,AY358430,BC006283,BC006294,BI602824 ADQ32519,NP_057330,EAW52404,AAF06940,AAQ88796,AAH06283,AAH06294,Q9BPX1 Hs.18788 DHRS10|SDR47C1|retSDR3 17-beta-HSD 14|17-beta-hydroxysteroid dehydrogenase 14|17-beta-hydroxysteroid dehydrogenase DHRS10|dehydrogenase/reductase (SDR family) member 10|dehydrogenase/reductase SDR family member 10|retinal short-chain dehydrogenase/reductase 3|retinal short-chain dehydrogenase/reductase retSDR3|short chain dehydrogenase/reductase family 47C, member 1 protein-coding 1353008 HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 1580863 19170196,19401349,19453261,19556422,19574343,19598235,19625176,19692168,19729830,19797119,20148360,20200332,20214802,20379614,20453000,20734064,16595205,16344560,15489334,15342556,15199113,14666693,14634838,12957669,12477932,12161528,11940569,11672453,10999824,9783542,9435439,9373149,9360554,8889548,8855807,8125298,7824086,7759109,7626483,7546291,16807381,17538076,8099587,19415745,19027726,18996480,18984855,18980759,18794456,18676680,18636124,18510611,18372405,18348690,17993718,17953976,17510238,17507624,17505937,17260097,17081983,16954436,20634197 3294 NM_002153,AC092142,AY325910,CH471114,L40802,AK223001,AK313109,AU139034,BC009581,BC059170,BM670647,BP270993,CR590260,CR591324,CR591737,CR595269,CR595758,CR599647,CR600847,CR601534,CR614043,CR615010,CR623916,CR624530,L11708 NP_002144,AAP78485,EAW95519,AAC41917,BAD96721,BAG35931,AAH09581,AAH59170,AAA03562,P37059,Q53GD0,ABM84026,ABM87371 Hs.162795 EDH17B2|HSD17|SDR9C2 17-beta-HSD 2|17-beta-hydroxysteroid dehydrogenase type 2|20 alpha-hydroxysteroid dehydrogenase|20-alpha-HSD|E2DH|estradiol 17-beta-dehydrogenase 2|microsomal 17-beta-hydroxysteroid dehydrogenase|short chain dehydrogenase/reductase family 9C, member 2|testosterone 17-beta-dehydrogenase protein-coding 1344400 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq] 1599964,1580863,4889108,4889107,2325883 8075637,15583024,19429456,19027726,18510611,17509588,17466011,16174723,15654505,15489334,14634838,12477932,12210481,11158067,9758445,9709959,9467575,8626842,8550739,6310248,19453261,19505920,19574343,19598235,20059664,20214802,20453000,2918056,598011,20634197,20677014,20734064 1599964,4889108,4889107,2325883 3293 NM_000197,NG_008157,AL160269,AY341031,CH471174,BC034281,BT019371,CR541894,U05659,HC007028 NP_000188,CAH71615,AAP88937,EAW92645,AAH34281,AAV38178,CAG46692,AAC50066,P37058,Q5U0Q6,Q6FH62,ABM82738,ABM85921,CBH19319 Hs.477 EDH17B3|SDR12C2 17-beta-HSD 3|17-beta-HSD3|17-beta-hydroxysteroid dehydrogenase type 3|short chain dehydrogenase/reductase family 12C, member 2|testicular 17-beta-hydroxysteroid dehydrogenase|testosterone 17-beta-dehydrogenase 3 1643473 BW102_H protein-coding 731284 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. [provided by RefSeq] 1599968,1580863,1300048 2303409,20562859,8902629,9880674,17220478,7487879,19100308,19027726,18794456,18676680,18415690,18281655,18086758,16766224,16385454,16344560,15644212,15635413,15489334,14702039,12477932,11992265,11964182,11743515,11700068,10419023,10402265,10400999,10343282,10199776,9915948,9783542,9482850,9345094,9197465,9133619,9089413,8938456,8547189,8279468,2921319,19913121,20628086,20634197,20734064,20877624,20673864,20566640,16756494,19170196,19453261,19574343,19598235,19625176,19627379,19692168,19776291,20214802,20453000 1599968 3295 AF057740,CH471086,Y11393,AK094049,AK293254,AK295440,AK298075,AK299685,AK301212,AK308968,AK312449,BC003098,CR592643,AF057739,CR596907,CR613136,DA296575,DA426062,X87176,NM_000414,NG_008182,AC024564,AF057720,AF057721,AF057722,AF057723,AF057724,AF057725,AF057726,AF057727,AF057728,AF057729,AF057730,AF057731,AF057732,AF057733,AF057735,AF057736,AF057737,AF057738,CX782401,DA508630,DC325873,NM_001199291,NM_001199292 EAW48910,EAW48911,CAA72203,BAG52804,BAG56786,BAG58380,BAG60363,BAG61592,BAG62787,BAG35356,AAH03098,CAA60643,P51659,Q59H27,Q9UBA4,ABM82792,ABM85981,NP_000405,AAD08652,NP_001186220,NP_001186221 Hs.406861 DBP|MFE-2|MPF-2|SDR8C1 17-beta-HSD 4|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|17beta-estradiol dehydrogenase type IV|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|D-3-hydroxyacyl-CoA dehydratase|D-bifunctional protein, peroxisomal|OTTHUMP00000222964|OTTHUMP00000222966|OTTHUMP00000222967|OTTHUMP00000222969|beta-hydroxyacyl dehydrogenase|beta-keto-reductase|multifunctional protein 2|peroxisomal multifunctional enzyme type 2|peroxisomal multifunctional enzyme type ii|peroxisomal multifunctional protein 2|short chain dehydrogenase/reductase family 8C, member 1 1643508 BW262_H protein-coding 1602229 HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. Transcript variants utilizing alternative polyadenylation signals exist. [provided by RefSeq] 19837928,20200332,9188497,11513953,19027726,17289849,17070195,12477932,11360992,11306067,11165032,10896656,20526338,17207965,21039282 8630 NM_003725,AC117378,AC121758,CH471054,AF016509,AF223225,AI760144,AK313423,BC020710,U89281 NP_003716,EAW96963,EAW96964,EAW96965,EAW96966,AAB67236,AAF81017,BAG36215,AAH20710,AAB88252,O14756,ADQ32110 Hs.524513 HSE|RODH|SDR9C6 17-beta-HSD 6|17-beta-HSD6|17-beta-hydroxysteroid dehydrogenase type 6|3(alpha->beta)-hydroxysteroid epimerase|3(alpha->beta)-hydroxysteroid epimerasel|3-alpha->beta-HSE|3-alpha->beta-hydroxysteroid epimerase|3-hydroxysteroid epimerase|NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase|oxidative 3-alpha hydroxysteroid dehydrogenase|oxidative 3-alpha-hydroxysteroid-dehydrogenase|oxidoreductase|retinol dehydrogenase|short chain dehydrogenase/reductase family 9C, member 6 protein-coding 735953 HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7 The 17-beta-hydroxysteroid dehydrogenase enzyme (EC 1.1.1.62) oxidizes or reduces estrogens and androgens in mammals and regulates the biologic potency of these steroids.[supplied by OMIM] 1580863,1300048 11969204,10544267,19027726,19019335,18660489,12732193,12477932,10419022,3855619,20140262,17498944,17454161,16901934,16356630,15862973,15489334,14702039,12975309,12829805,19429442,19460435,19536175,20214802,20215536 51478 AF162759,AF162760,AF162761,AF162762,AF162763,AF162764,AF162765,AF162766,AF162767,AJ250550,AL392003,AL445197,CH471067,AF098786,AF145023,AJ249179,NM_016371,AK022929,AK290741,AY358962,BC007068,BC065246,BT007075,CR625699 NP_057455,AAF14537,CAC88111,CAI15944,CAI15946,CAI15947,CAI15948,EAW90716,EAW90720,AAF09266,AAP97275,CAC20418,BAB14312,BAF83430,AAQ89321,AAH07068,AAH65246,AAP35738,P56937,Q5T248,Q5T249,Q5T250,Q9H9C0,ACT64500,ACT64501,CAI13457,CAI13458 Hs.492925 MGC12523|MGC75018|PRAP|SDR37C1 17 beta-hydroxysteroid dehydrogenase type VII|17-beta-HSD 7|17-beta-hydroxysteroid dehydrogenase 7|17beta hydroxysteroid dehydrogenase|3-keto-steroid reductase|estradiol 17-beta-dehydrogenase 7|short chain dehydrogenase/reductase family 37C, member 1 protein-coding 1349616 HSD17B7P1 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 1 148818 NG_001308,AJ297815,AC099571 pseudo 1347247 HSD17B7P2 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 15862963,12829805,12732193,12477932,10544267 158160 NR_003086,AL133216,AL133217,AF165514,AF165517,AK293968,AK295332,AK307174,AY829267,BC071987,BM148133 AAF86644,AAF86647,BAG57340,BAG58306,AAV87307,Q5MGS6,Q9NRW5,Q9NRW6 Hs.652484 FLJ40773|HSD17B7|Hsd17b_2|MGC88684|bA291L22.1 pseudo 1351353 HSD17B8 hydroxysteroid (17-beta) dehydrogenase 8 In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq] 1580863 16930994,16381901,15489336,15489334,14574404,12477932,12136098,11165015,11076863,9712896,9205114,8812499,19343046,19027726,18794456,17978863,17583490,19913121,20587610,20628086,20877624,18852215,19571038,19851445,20214802 7923 NM_014234,AJ328015,AL031228,AL645940,AL662824,AL713971,AL844527,CH471081,CR759733,CR759786,CR847841,D84401,BC008185,BT007239,CR593502,D82061 NP_055049,CAC38444,CAI18068,CAI17616,CAI17657,CAI41840,EAX03682,CAQ10302,CAQ08245,CAQ10313,AAH08185,AAP35903,BAA11529,Q92506,CAL38385 Hs.415058 D6S2245E|FABG|FABGL|H2-KE6|HKE6|KE6|RING2|SDR30C1|dJ1033B10.9 17-beta-HSD 8|17-beta-hydroxysteroid dehydrogenase 8|3-oxoacyl-[acyl-carrier-protein] reductase|beta-ketoacyl-[acyl-carrier-protein] reductase-like|estradiol 17-beta-dehydrogenase 8|estrogen 17-oxidoreductase|ke-6|protein Ke6|really interesting new gene 2 protein|short chain dehydrogenase/reductase family 30C, member 1|testosterone 17-beta-dehydrogenase 8 protein-coding 1343605 HSD17BP1 hydroxysteroid (17-beta) dehydrogenase pseudogene 1 8703123,2779584 643646 NG_006749,AC067852,U34879 EDH17B1|EDHB17|HSD17|HSD17BP1 pseudo 1347893 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 1626438,1580863,4889549,1599701,4889559 1944309,8274411,19429456,19336370,19197249,19148546,19027726,18955108,18778748,18723074,18676680,18636124,18524572,18281655,18223326,17826523,17689071,17627014,17624763,17589376,17507624,16302261,15797861,15489334,15291757,15291746,15097232,14764797,12832414,12530676,12530651,12477932,12438565,12205101,12054649,12050213,11912155,11174850,10810285,10391209,10067877,8908375,8043598,7673125,2779585,2243100,2139411,2082186,2066113,1920284,1737804,1673569,1401999,20420909,15583024,19170196,19414525,19453261,19505920,19574343,19625176,19692168,20056642,20086173,20184498,20214802,20453000,20729390,20734064,20877624,19913121,20628086,20634197,20660004 1626438,4889549,1599701,4889559 3283 NM_000862,AL121995,CH471122,M28392,M38180,M63397,AK291556,AL544564,BC031999,CR590386,CR592176,CR592878,CR592971,CR593000,CR593718,CR594828,CR595151,CR597734,CR599088,CR600450,CR601348,CR601599,CR602148,CR603707,CR606137,CR608233,CR608288,CR609339,CR611232,CR612272,CR612644,CR613080,CR613981,CR614968,CR615472,CR615721,CR615908,CR616641,CR617417,CR617775,CR617799,CR618495,CR619906,CR621102,CR622398,CR623220,CR625130,CR626548,M27137,M35493,CR611960,S45679,X53321,X55997,HC007030 NP_000853,CAI23359,EAW56703,EAW56704,AAA36001,AAA51831,AAA51662,BAF84245,AAH31999,AAA36015,AAA51538,AAB23543,CAA37408,CAA39469,P14060,Q5TDG2,ABM82087,ABM85268,CBH19320 Hs.364941 3BETAHSD|HSD3B|HSDB3|HSDB3A|I|SDR11E1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I|3-beta-HSD I|3-beta-hydroxy-5-ene steroid dehydrogenase|3-beta-hydroxy-Delta(5)-steroid dehydrogenase|delta-5-3-ketosteroid isomerase|hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 1|progesterone reductase|short chain dehydrogenase/reductase family 11E, member 1|steroid Delta-isomerase|trophoblast antigen FDO161G 1643449 BW98_H protein-coding 1318588 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 1625114,1625113,1580863,4761326,4888511,4889108,4889549,4889596,4833436,4889527,4889107,4145934,2325883,632873 15585552,15498889,15489334,15208301,15131259,14764821,14764797,14671206,12530651,12477932,12205101,12050213,11912155,11287026,10843183,10651755,10599696,9719627,9373149,8943802,8316254,8284113,8185809,1944309,19059462,19027726,19022561,18778748,18676680,18636124,18524572,18505908,18252794,18000308,17823934,17689071,17589376,17507624,17220347,16846535,16710414,16648810,15928316,15767343,15615861,20734064,8126127,8125298,8060486,7962268,7893703,7833923,7633460,7633426,7608265,2066113,1741954,1363812,295036,15342556,15583024,19158234,19170196,19414525,19453261,19505920,19574343,19625176,19692168,20453000,2243100,19913121,20628086,20634197,20660004 1625114,1625113,4761326,4888511,4889108,4889549,4889596,4833436,4889527,4889107,4145934,2325883,632873 3284 NM_000198,AL359553,CH471122,M77144,S60309,S60310,AK222997,AK313413,BC038419,BC131488,CF596786,CR595742,M67466,AV705363,BP197992,NG_013349,NM_001166120 NP_000189,CAC19799,CAI23079,EAW56700,EAW56701,EAW56702,AAA36014,AAC60599,AAC60600,BAD96717,BAG36207,AAH38419,AAI31489,AAA36016,P26439,Q5QP01,ABM82690,ABM85874,NP_001159592 Hs.654399 HSD3B|HSDB|SDR11E2 3 beta-HSD type II|3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II|3-beta-HSD II|3-beta-hydroxy-5-ene steroid dehydrogenase|3-beta-hydroxy-Delta(5)-steroid dehydrogenase|OTTHUMP00000014490|delta 5-delta 4-isomerase type II|progesterone reductase|short chain dehydrogenase/reductase family 11E, member 2 1643449 BW98_H protein-coding 734010 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 737780,1599971 20531254,21044367,11067870,19027726,16344560,16341674,15489334,14702039,12679481,12477932 737780,1599971 80270 NM_001142777,NM_025193,NM_001142778,NG_012346,AC135048,CH471192,AF277719,AK057436,AK290950,AK292068,BC004929,BM744211,CA413388,DB336146 NP_001136249,NP_079469,NP_001136250,EAW52183,AAG37824,BAB71486,BAF83639,BAF84757,AAH04929,Q96M28,Q9H2F3,ABW03858,ABW03859 Hs.460618 PFIC4|SDR11E3 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase|3 beta-hydroxysteroid dehydrogenase type 7|3 beta-hydroxysteroid dehydrogenase type VII|3-beta-HSD VII|3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase|C(27)-3BETA-HSD|c(27) 3-beta-HSD|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase|short chain dehydrogenase/reductase family 11E, member 3 protein-coding 1352915 HSD3BP1 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1 10552929,10552929 3285,391076 AL359553,NG_022802 pseudo 1343430 HSD3BP2 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2 10552929,10552929,7588414 3286,440606 AL359553,NG_005676,S80140 AAD14329 pseudo 1348084 HSD3BP3 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3 10552929,10552929 3287,441900 AL121995,NG_027848,XM_003118965,XM_003119810,XM_003120452 XP_003119013,XP_003119858,XP_003120500 pseudo 1350891 HSD3BP4 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 10552929,10552929,7588414,7603471 3288,128102 AF252254,AL109966,NR_033781,S80139 AAD14328,AAM08704,Q8TDP9,Q99889 Hs.681806 pseudo 1343192 HSD3BP5 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5 10552929,10552929 3289,391081 AL109966,NG_022803 pseudo 1354077 HSDL1 hydroxysteroid dehydrogenase like 1 20877624,17353931,19027726,19026618,14702039,12477932,12153137,9373149,8125298 83693 BC104218,BC104219,BC106917,DB525323,DC306668,H40440,NM_001146051,AC040169,CH471114,CQ782843,AF237684,AK025626,AK074878,AK098199,AK299798,AY028377,BC018084,NM_031463 AAI04219,AAI04220,AAI06918,Q3SXM5,NP_113651,NP_001139523,EAW95502,EAW95503,EAW95504,CAF86070,AAK15047,BAC11262,BAG61674,AAK16927,AAH18084 Hs.555992 MGC125994|MGC125995|MGC126032|SDR12C3 inactive hydroxysteroid dehydrogenase-like protein 1|short chain dehydrogenase/reductase family 12C, member 3|steroid dehydrogenase-like protein protein-coding 1350650 HSDL2 hydroxysteroid dehydrogenase like 2 1580863 16344560,16501878,18369455,19703561,19027726,14702039,12834046,12477932,9373149,8125298,20583170,20877624 84263 CR614573,DB052480,NM_001195822,NR_036651,HH961796,NM_032303,AL162732,CH471105,AK090940,AK098721,AK225946,AK289929,AK292486,AK301469,AK303645,AK313605,AL833735,AY093428,BC004331,BC036620,BC047074,BC095451 NP_001182751,CBX51371,NP_115679,CAM17151,CAM17152,EAW59104,EAW59105,EAW59106,EAW59107,BAF82618,BAF85175,BAG62989,BAG64648,BAG36370,CAH56256,AAM14670,AAH04331,AAH95451,Q6YN16 Hs.59486 C9orf99|FLJ25855|MGC10940|SDR13C1 OTTHUMP00000021934|hydroxysteroid dehydrogenase-like protein 2|short chain dehydrogenase/reductase family 13C, member 1 protein-coding 730995 HSF1 heat shock transcription factor 1 The product of this gene is a heat-shock transcription factor. Transcription of heat-shock genes is rapidly induced after temperature stress. Hsp90, by itself and/or associated with multichaperone complexes, is a major repressor of this gene. [provided by RefSeq] 1580863 1871106,1628823,14751250,16169070,9155018,20630999,20459615,11005381,1871105,10821850,18029348,19486883,19338268,19335068,19229036,19129477,19097133,18813348,18725048,18682744,18657505,18474607,18457423,18398426,18286539,17922035,17897941,17889646,17873279,17273789,17244614,17216044,17213196,17081983,16678833,16624816,16525201,16428449,16382149,16344560,16303760,16293251,16278218,16051598,15777846,15760475,15702990,15661742,15489334,15457556,15364926,15358168,15302935,15152009,15081420,14960326,14766217,14707147,14702039,14699143,12917326,12878154,12865437,12813038,12665592,12659875,12646186,12621024,12477932,12468538,11994473,11877455,11851405,11820785,11801594,11583998,11527157,11486022,11447121,11162511,10867642,10747973,9880553,9727490,9699716,9649501,9499401,9373149,9359875,9325337,9222609,8940068,8856972,8125298,7639722,15016915,15576338,17884799,19221897,19401454,19517141,19597476,19609719,19668225,19758120,19793920,19817876,19844581,20152833,20176657,20185824,20198330,20396959,20834230 3297 AC233992,CS542425,NM_005526,AC110280,AC142402,AF205589,CH471162,AF299094,AK054762,AK125467,AK126580,AK222497,AK290975,AK300205,BC014638,BT007351,CR613149,CR623211,DA481620,M64673 CAM91162,NP_005517,EAW82131,AAG23698,BAG51421,BAG54202,BAD96217,BAF83664,BAG61976,AAH14638,AAP36015,AAA52695,Q00613,Q3KQR6,Q53HT3,Q9HAV2,ABM84785 Hs.530227 HSTF1 HSF 1|HSTF 1|heat shock factor protein 1 protein-coding 68578 HSF2 heat shock transcription factor 2 HSF2, as well as the related gene HSF1, encodes a protein that binds specifically to the heat-shock element and has homology to HSFs of other species. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Although the names HSF1 and HSF2 were chosen for historical reasons, these peptides should be referred to as heat-shock transcription factors. [provided by RefSeq] 1580863 11278381,12477932,11795475,10224043,9651507,9373149,9367915,9118008,8339932,8125298,1717345,19768582,20379614,1871106,19129477,19017645,18978678,18570919,18211895,17915561,17688198,17213196,16428449,16344560,15662014,15489334,14699143,14574404,12865437,12813038 3298 CS542427,NM_004506,NM_001135564,AL121954,CH471051,DQ492684,Z99129,AK225593,AK225594,AK294624,AK316377,BC005329,BC064622,BC112323,BC121050,BC121051,BC128420,CR597278,CR604546,CR623759,CR626481,DA741774,M65217 CAM91163,NP_004497,NP_001129036,CAC14262,EAW48174,EAW48175,EAW48176,EAW48177,ABF47087,CAI20560,BAG57805,BAH14748,AAH05329,AAH64622,AAI12324,AAI21051,AAI21052,AAI28421,AAA36017,Q03933,Q0VAH9,Q9BS48,ABZ92426 Hs.158195 HSF 2|HSTF 2|MGC117376|MGC156196|MGC75048 heat shock factor 2|heat shock factor protein 2 protein-coding 1349418 HSF2BP heat shock transcription factor 2 binding protein HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq] 1580863 9651507,16780588,15489334,12477932,10830953,20379614 11077 NM_007031,NG_011491,AP001050,AP001051,AP001052,AP001751,AP001752,CH471079,AB007131,AK301795,AK314121,BC000153,CR457067 NP_008962,BAA95537,BAA95539,EAX09485,EAX09486,BAA31967,BAG63248,BAG36812,AAH00153,CAG33348,O75031,Q6IAT7,ABZ92301 Hs.406157 OTTHUMP00000109451|heat shock factor 2-binding protein protein-coding 1321924 HSF4 heat shock transcription factor 4 Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq] 1580863,1599774 8972228,19014451,18941546,16876512,16552721,16344560,16341674,15959809,15308659,15277496,12477932,12089525,10737800,10488131,9373149,8125298,16581800,20564821,19913121,20628086,20670914 1599774 3299 NM_001538,NM_001040667,NG_009294,AB029347,AC074143,CH471092,AB029348,AK225152,AK293631,AK296210,AK307211,AK308638,BC130383,BG980713,BI001524,BM768246,BM805441,BX348481,CA412687,D87673,DA111974,DA372008 AAI53062,NP_001529,NP_001035757,BAA84581,EAW83083,EAW83084,EAW83085,EAW83086,BAA84582,BAG57087,BAG58936,BAA13433,Q9ULV5,AAI46447 Hs.512156,Hs.710714 CTM HSF 4|HSTF 4|hHSF4|heat shock factor protein 4 protein-coding 1604244 HSF5 heat shock transcription factor family member 5 12477932 124535 HC007032,NM_001080439,AC005666,AC023992,AL137385,BC033017,BC033020,BC115385,BC115386 CBH19321,NP_001073908,AAH33017,AAH33020,AAI15386,AAI15387,A0AUM3,Q4G112 Hs.380061 FLJ40311|HSF 5|HSTF 5|MGC134827 heat shock factor protein 5|heat shock transcription factor 5 protein-coding 1605081 HSFX1 heat shock transcription factor family, X linked 1 16713569,15044259,12477932 51402 NM_016153,AC016939,AC232272,AF139981,AF139982,CH471169,AF139980,AK310305,BC021706 NP_057237,EAW99371,AAD45879,AAH21706,Q9UBD0,ABM84571,ABW03316,AAD45880 Hs.709146 FLJ17347|HSFX2|LW-1 heat shock transcription factor, X-linked protein-coding 1625803 HSFX2 heat shock transcription factor family, X linked 2 11256614,15489334,15044259,12477932 100130086 NM_001164415,AC016940,AC233288,AF139981,AF139982,AF139980,AK310305,BC021706 NP_001157887,AAD45880,AAD45879,AAH21706,Q9UBD0 Hs.709146,Hs.656936 FLJ17347|HSFX1|MGC26102 heat shock transcription factor, X-linked protein-coding 1323575 HSFY1 heat shock transcription factor, Y-linked 1 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 15489334,15044259,14985478,14702039,12815422,12477932 86614 NM_033108,BC117382,BX281920,NM_152584,NG_004636,NG_012030,AC022486,CH471202,AF332226,AF332227,AJ566404,BC036567,BC055414,BC117380,NR_003510 NP_149099,AAI17383,Q96LI6,ABZ92078,NP_689797,EAW54676,EAW54677,EAW54678,AAK13478,AAK13479,CAD98806,AAH36567,AAH55414,AAI17381 Hs.662281 HSF2L|HSFY|HSFY2 HSF2-like|heat shock transcription factor 2-like protein|heat shock transcription factor, Y-linked protein-coding 1348679 HSFY2 heat shock transcription factor, Y linked 2 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 737633 15489334,15044259,14985478,14702039,12815422,12477932 737633 159119 NR_003509,NM_001001877,NM_153716,NG_004636,AC007379,AK058182 BAB71706,Q96LI6,AAI48446,AAI53036,NP_001001877,NP_714927,ADR83170 Hs.592255 FLJ25453|HSF2L|HSFY|HSFY1 HSF2-like|heat shock transcription factor 2-like protein|heat shock transcription factor, Y-linked protein-coding 2802462 HSFY4P heat shock transcription factor, Y-linked 4, pseudogene 9847074 643987 AC009494,NG_016562 pseudo 1342854 HSFYP1 heat shock transcription factor, Y-linked-like pseudogene 1 11381032 27437 NR_003607,AC007064,AY026053 Hs.143955 CECR8|HSFYL1|HSFYP1|NCRNA00016 pseudo 2311617 HSFYP2 heat shock transcription factor, Y-linked-like pseudogene 2 9847074 442479 NG_012371,AC006040 HSFYP2 pseudo 1313876 HSH2D hematopoietic SH2 domain containing T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM] 737633,1580863 16169852,15489334,15284240,14702039,12960172,12477932,11700021,19913121,20628086,20080636,20237496,20471366 737633 84941 NM_032855,AC008894,AC020911,CH471106,AK027792,AK131222,AK298682,AK300027,AK307563,AY319652,BC016826,BC025237 NP_116244,EAW84528,EAW84529,EAW84530,EAW84531,EAW84532,BAB55372,BAD18408,BAG60845,BAG61838,AAQ81285,AAH16826,AAH25237,Q96AS3,Q96JZ2,ABM83091,ABM86285 Hs.631617 ALX|FLJ14886|HSH2 adaptor in lymphocytes of unknown function X|hematopoietic SH2 domain-containing protein|hematopoietic SH2 protein protein-coding 1347187 HSN2 hereditary sensory neuropathy, type II This intronless gene is poorly expressed and lies within an intron of WNK1 gene (GeneID:65125) on chr 12. Mutations in this gene are associated with hereditary sensory and autonomic neuropathy, type II, an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. It is proposed that this gene product may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells. [provided by RefSeq] 1303985 8889549,4351257,15060842,19651702,18521183,16713569,16541075,16534117,15911806,15455397,12477932 1303985 378465 NM_213655,NG_007984,AC004765,BK004108,BC130467,BC130469,BJ997509,N57692 NP_998820,DAA04494,AAI30468,AAI30470,Q6IFS5 Hs.656067,Hs.701055 HSAN2 protein-coding 1347335 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. There are 2 major cytosolic HSP90 proteins, HSP90AA1, an inducible form, and HSP90AB1 (MIM 140572), a constitutive form. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]).[supplied by OMIM] 2326084,4892102 19913121,20089831,20226014,20628086,20634891,20558745,20138989,11036079,10995457,10913161,10903152,10786835,10744744,10617616,10578053,10508479,10400612,10376793,10197982,10076566,10066374,9837941,9817749,9749880,9685350,9602032,9452498,9392437,9334248,9269769,9261129,9195923,9148915,9111057,9108479,9083006,9079689,9001212,8898375,8776728,8645634,8621522,8486648,8408024,8404044,7961671,7876093,7813446,7794926,7588731,2780322,2591742,2507541,2492519,2469626,1740332,1525041,1406681,1368637,1310678,15020715,15710247,17873020,17974989,1540595,18394702,18655187,19011619,11297531,12093808,17028174,11013261,12481031,15843522,12489981,9222609,10934467,17728246,17707089,17698952,17569659,17548610,17427945,17397257,17336451,17327415,17324930,17304350,17299090,17222799,17218278,17211576,17148781,17088927,17083915,17081983,17081065,17030621,16949366,16938294,16923571,16844778,16807684,16774932,16741950,16698020,16682002,16644868,16611982,16583711,16565516,16531226,16495214,16478993,16403413,16396496,16394098,9020169,12621024,11707406,12930902,14697242,14559896,14499622,15782129,12614460,15643424,15618521,15664193,12471035,20668552,15538384,16951198,20688913,11470816,9660753,12526792,15644312,2527334,9580552,10781589,19350847,19329795,19293389,19254810,19245816,19193894,19159681,19147678,19142186,19138996,19136058,19110265,19090995,19061638,19047110,19028451,18988734,18957107,18950863,18922470,18836734,18820283,18820127,18800240,18695913,18638579,18591668,18511558,18497978,18485364,18412542,18400751,18386162,18373550,18343820,18320023,18285346,18270269,18245548,18229454,18211808,18037622,17978573,17977914,17975158,17957250,17956728,17915561,17908693,17826744,16344560,16330544,16300468,16280321,16278218,16269234,16263121,16171778,16169070,16132836,16118214,16049054,16038408,15972449,15951401,15937123,15894266,15850399,15822905,15791211,15782121,15777846,15647277,15613472,15529360,15526284,15489334,15358771,15358769,15247219,15235609,15231747,15182205,15062560,15046863,15009113,15001580,14743216,14739935,14724288,14718169,14702039,14668798,14614132,14570880,14557268,12871950,12855682,12853476,12676772,12670868,12644583,12604615,12586360,12559950,12538866,12504007,12482853,12482202,12477932,12446770,12427754,12226087,12220519,12176997,12167617,12145316,12124224,12117999,12077419,11988487,11912194,11911945,11888936,11864612,11812147,11809754,11805120,11779851,11751894,11751892,11751878,11748628,11744239,11598136,11583998,11557750,11507088,11447118,11333259,11284722,11237709,11146632,11099500,11071886,19738418,11076968,12221128,12852856,15146192,15189447,16093354,16275660,16293251,16307917,16462731,16888650,16919237,16968706,17178836,17220478,18347946,18550537,19001379,19356729,19458189,19560753,19569046,19576239,19598015,19656872,19682504,19696785,19740745,19758187,19759002,19764559,19855434,19875381,19913553,19952119,19952121,19965370,20007907,20048054,20129057,20159553,20210521,20451233,20508983,7790358,9880522,20373063,20663926,20694452,20237157,20553606,15147973,15344906,15383005,16507982,18591380,20651072,20801936,20924358,20937817,20864038,16036220,16037132,16196087,16314389,16504566,16621797,16740632,17210713,19158084,20546334,20806039,20936779 2326084,4892102 3320 NM_005348,AL133223,CH471061,DQ314871,M27024,M30626,AF028832,AI250920,AJ890082,AJ890083,AK056446,NM_001017963,AK129557,AK291115,AK291607,AK300126,BC000987,BC001695,BC007989,BC017233,BC023006,BC108695,BC121062,BX247955,BX248761,CR589993,CR593964,CR594716,CR596117,CR599002,CR604052,CR605488,CR607053,CR610614,CR611827,CR611873,CR613014,CR615580,CR619460,CR621835,CR623660,DA237149,DC303876,X07270,X15183 NP_001017963,NP_005339,EAW81765,EAW81766,EAW81767,EAW81768,ABC40730,AAA63194,AAA36023,AAC25497,CAI64495,CAI64496,BAG51711,BAF83804,BAF84296,BAG61917,AAH00987,AAH07989,AAH23006,AAI08696,AAI21063,CAD62296,CAD66568,CAA30255,CAA33259,O75322,P07900,Q2VPJ6,Q86SX1,Q86U12,Q8TBA7,Q96HX7 Hs.700831,Hs.525600 FLJ31884|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp89|Hsp90|LAP2 HSP 86|heat shock 86 kDa|heat shock 90kD protein 1, alpha|heat shock 90kD protein 1, alpha-like 4|heat shock 90kD protein, alpha-like 4|heat shock 90kDa protein 1, alpha|heat shock 90kda protein 1, alpha|heat shock protein HSP 90-alpha|renal carcinoma antigen NY-REN-38 protein-coding 1316342 HSP90AA2 heat shock protein 90kDa alpha (cytosolic), class A member 2 HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. HSP90AA2 is a cytosolic HSP90 protein. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]). See HSP90AA1 (MIM 140571) for further information on HSP90 proteins.[supplied by OMIM] 1580863 19383717,19234166,19130193,19091746,18798074,17724475,16269234,15146192,2591742,1740332,14743216,17643375,20170530,20694586,20558142,18559531,20937816 3324 NG_005856,AC103796,M30627 AAA36024,Q14568 Hs.728180 HSP90ALPHA|HSPCA|HSPCAL3 heat shock 90kda protein 1, alpha-like 3 pseudo 1348010 HSP90AA3P heat shock protein 90kDa alpha (cytosolic), class A member 3 (pseudogene) 16269234,1740332 3322 NG_005218,AL365440 HSPCAL1 heat shock 90kda protein 1, alpha-like 1 pseudo 1348889 HSP90AA4P heat shock protein 90kDa alpha (cytosolic), class A member 4 (pseudogene) 16269234,9847074,1740332 3323 AC020698,AY956760,NR_036692 AAX38247,Q58FG1 Hs.553481 HSP90Ad|HSPCAL2 heat shock 90kda protein 1, alpha-like 2 pseudo 1605779 HSP90AA5P heat shock protein 90kDa alpha (cytosolic), class A member 5 (pseudogene) 16269234 730211 NG_005673,AC131235,AY956761 AAX38248,Q58FG0 Hs.581644 HSP90Ae pseudo 1606064 HSP90AA6P heat shock protein 90kDa alpha (cytosolic), class A member 6 (pseudogene) 16269234 441051 AC096571,AY956762,NR_036751 AAX38249,Q58FF9 HSP90Af pseudo 1346893 HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. There are 2 major cytosolic HSP90 proteins, HSP90AA1 (MIM 140571), an inducible form, and HSP90AB1, a constitutive form. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]).[supplied by OMIM] 1580863,2326084,4892102 2768249,19047110,18591256,18412542,18400751,18285346,18239673,17764690,17081983,17081065,16964243,16916647,16582619,16565220,16280321,16269234,16094384,15952740,15822905,15791211,15635413,15592455,15581363,15497503,15489334,15324660,15302935,15284248,14743216,14697242,14574404,14532285,12559950,12477932,11795466,11707401,11230166,11099500,10995457,10376793,9150948,8180474,7588731,7581991,3301534,2492519,2469626,16169070,20451655,20936779,20226818,15642353,15870294,16314389,16330544,16650407,17643375,18347946,19022436,19254810,19327008,19380486,19576239,19773279,19802386,19858214,19996313,19913121,20628086 2326084,4892102 3326 NM_007355,AL139392,CH471081,D17804,DQ314872,J04988,S70561,AF275719,AK025370,AK130494,AK290734,AK294643,AK297367,AK312255,AL136543,AY359878,BC004928,BC007327,BC009206,BC012807,BC014485,BC016753,BC068474,BX649079,CR596772,CR597716,CR605481,CR612013,CR613983,CR618851,M16660,XR_113895,XR_108652,XR_112882 NP_031381,CAI20094,CAI20095,CAI20096,CAI20097,CAI20098,EAX04257,EAX04258,EAX04259,EAX04260,BAA22050,ABC40731,AAA36026,AAD14062,AAF82792,BAB15121,BAF83423,BAG57821,BAG59814,BAG35187,CAB66478,AAQ63401,AAH04928,AAH07327,AAH09206,AAH12807,AAH14485,AAH16753,AAH68474,AAA36025,O14942,P08238,Q6PK50,Q9H6X9,ABM83950,ABM87267 Hs.509736 D6S182|FLJ26984|HSP90-BETA|HSP90B|HSPC2|HSPCB HSP 84|HSP 90|HSP84|heat shock 84 kDa|heat shock 90kD protein 1, beta|heat shock 90kDa protein 1, beta|heat shock 90kda protein 1, beta|heat shock protein HSP 90-beta|heat shock protein beta protein-coding 1602950 HSP90AB2P heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene) 16507910,16288044,16269234 391634 NR_003132,AC006226,AY956763 AAX38250,Q58FF8 Hs.725874 HSP90BB pseudo 1348468 HSP90AB3P heat shock protein 90kDa alpha (cytosolic), class B member 3 (pseudogene) 16269234,9847074,8288256,19801982 3327 NR_036694,AC093768,AY956764 AAX38251,Q58FF7 Hs.720330 HSP90BC|HSPCP1 heat shock 90kda protein 1, beta pseudogene 1 pseudo 1602939 HSP90AB4P heat shock protein 90kDa alpha (cytosolic), class B member 4 (pseudogene) 16269234 664618 NR_002927,AC091046,AY956765 AAX38252,Q58FF6 Hs.670224 HSP90Bd|HsHsp90Bd pseudo 1606854 HSP90AB5P heat shock protein 90kDa alpha (cytosolic), class B member 5 (pseudogene) 16269234 442083 NG_005680,AC016930,AY956766 Hs.627167 HSP90BE pseudo 1604670 HSP90AB6P heat shock protein 90kDa alpha (cytosolic), class B member 6 (pseudogene) 16269234 541611 NG_005682,AL353581,AY956767 AAX38254,Q58FF4 Hs.627166 HSP90Bf pseudo 1321409 HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. HSP90B1 is an endoplasmic reticulum HSP90 protein. Other HSP90 proteins are found in cytosol (see HSP90AA1; MIM 140571) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]).[supplied by OMIM] 1580863 11958450,10497210,15082773,15192333,16130169,15845869,15620698,9596688,19212831,18941243,18662321,18554719,18482745,18411291,18340425,18331622,18273841,18264092,18190237,18178560,18155754,17805476,17726464,17612505,17545519,17431395,17347446,17082602,17081065,16754684,16630554,16497268,16288044,16269234,16263699,16015374,15962384,15952740,15728573,15637761,15489334,15257553,15107540,14500642,12754519,12665801,12654781,12643545,12477932,12475965,12470827,12397072,12167617,11912201,11861214,11584270,11557039,10049727,9694898,9006956,8617772,7768954,7523574,2546060,2378869,2377606,2325637,1512535,18239673,11907036,10887119,14499622,11726552,15082718,20232284,19000834,18029348,19578160,19615732,19724918,19752220,19875450,19895174,20237496,20300187,20351288,20029029,20562859,20936779,15166316,20352117,20721957,20704820,19913121,20176102,20599762,20628086 7184 NM_003299,AC078819,CH471054,CS288589,M26596,M33716,AB209534,AF087988,AJ890084,AK025459,AK025862,AK295262,AK298996,AK300521,AY040226,BC009195,BC066656,CR606918,X15187 NP_003290,EAW97723,EAW97724,CAK18765,AAA58621,AAA68201,BAD92771,CAI64497,BAG58251,BAG61085,BAG62233,AAK74072,AAH09195,AAH66656,CAA33261,P14625,Q59FC6,Q5CAQ5,Q96GW1 Hs.192374 ECGP|GP96|GRP94|TRA1 94 kDa glucose-regulated protein|GRP-94|Tumor rejection antigen-1 (gp96)|endoplasmin|endothelial cell (HBMEC) glycoprotein|glucose regulated protein, 94 kDa|gp96 homolog|heat shock protein 90 kDa beta member 1|tumor rejection antigen (gp96) 1|tumor rejection antigen 1 protein-coding 1347885 HSP90B2P heat shock protein 90kDa beta (Grp94), member 2 (pseudogene) 16269234 7190 NG_005740,AC022819,AY956768 AAX38255,Q58FF3 Hs.656611 GRP94P1|GRP94b|HSP|HSPCP2|HsGrp94b|TRA1P1|TRAP1 tumor rejection antigen (gp96) 1 pseudogene 1 pseudo 1351324 HSP90B3P heat shock protein 90kDa beta (Grp94), member 3 (pseudogene) 16269234,20395239 343477 NR_003130,AC099334,AY956769 Hs.591435 GRP94C|TRA1P2|TRAP2 pseudo 1313610 HSPA12A heat shock 70kDa protein 12A 1580863 18977241,17601350,15601604,14702039,12552099,12477932,9455477,8889548 259217 NM_025015,AC016825,CH471066,AB007877,AK023936,BC041412,BU738372,AK294672,AK294884 NP_079291,EAW49443,BAA24847,O43301,AAI56092,AAI56890,BAH11843,BAH11914 Hs.654682 FLJ13874|KIAA0417 heat shock 70 kDa protein 12A|heat shock 70kD protein 12A protein-coding 1323758 HSPA12B heat shock 70kD protein 12B The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. [provided by RefSeq] 1580863 19913121,20628086,12832005,18977241,17601350,15489334,14702039,12552099,12477932,11780052,7906708 116835 NM_052970,AL109804,CH471133,AK056712,AK297120,AK301294,BC090857,BC110881,BC117284,BC126263,BC143932,BF056643,NM_001197327 NP_443202,CAC17544,CAI18841,EAX10515,EAX10516,BAB71261,BAG59626,BAG62852,AAH90857,AAI10882,AAI17285,AAI26264,AAI43933,Q5BKZ8,Q5JX83,Q96MM6,NP_001184256 Hs.516854 C20orf60|FLJ32150|MGC131912|dJ1009E24.2 OTTHUMP00000030120|heat shock 70 kDa protein 12B protein-coding 735529 HSPA13 heat shock protein 70kDa family, member 13 The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq] 1580863 10675567,9373149,8889549,8889548,8825657,8125298,16189514,8131751,18793616,16087163,15489334,14702039,12477932,12107410,11319647,10830953,16713569,19793966 6782 NM_006948,AF130249,AL163206,CH471079,AA018751,AA767266,AI912654,AK128540,AK223282,AK299004,AK312396,BC017580,BC036370,BE467288,BI548162,CA392315,CF141775,CR603870,U04735 NP_008879,AAD21091,CAB90390,EAX10055,EAX10056,EAX10057,BAG54692,BAD97002,BAG61088,BAG35313,AAH36370,AAA16954,P48723,Q53FK2 Hs.352341 STCH heat shock 70 kDa protein 13|microsomal stress 70 protein ATPase core|microsomal stress-70 protein ATPase core|stress 70 protein chaperone, microsome-associated, 60kD|stress 70 protein chaperone, microsome-associated, 60kDa|stress-70 protein chaperone microsome-associated 60 kDa protein protein-coding 1350459 HSPA14 heat shock 70kDa protein 14 737633,1580863 19019335,18818748,15146197,14702039,14592822,12477932,10786835,9373149,8125298,12832005,7906708,16002468,16385451,19527514,20689807 737633 51182 AC069544,CH471072,EF444968,AA782088,AF112210,AF143723,AK000880,AK225265,AK225651,AK226065,AK292323,AK302452,BC015696,BC026226,BC038845,BC065281,BC108738,BC119690,BC119691,BQ424016,CN308284,CR590065,CR610820,NM_016299 NP_057383,EAW86258,EAW86259,EAW86260,EAW86261,EAW86262,ACA05968,ACA05969,ACA05970,AAF17198,AAF66640,BAG50835,BAF85012,BAG63747,AAH26226,AAH65281,AAI08739,AAI19691,Q0VDF9,Q6P155,Q8TAQ0 Hs.534169 HSP70-4|HSP70L1|MGC131990 HSP70-like protein 1|heat shock 70 kDa protein 14|heat shock protein HSP60|heat shock protein hsp70-related protein protein-coding 1349475 HSPA1A heat shock 70kDa protein 1A This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq] 1580863 20415540,11798084,11790298,11785981,11779758,11741305,11696222,11679576,11595173,11584023,11533664,11527400,11500375,11415446,11356186,11310559,11215307,11133992,11101523,10980614,10964507,10934467,10862698,10786835,10651811,10629618,10617616,10593983,10376524,10354271,10330192,10216320,10205060,10092532,9920933,9873016,9830037,9699716,9649501,9373149,9305631,9261129,9252351,9250404,9148915,8887650,8125298,7811761,7529764,3931075,3786141,3470951,3019832,2880793,2858050,2538825,1700760,1628823,1478667,12832005,7906708,15331702,15142379,15832179,15817944,15166037,15780175,15638722,11230127,12481031,9499401,14499622,14517289,1540595,20601427,19875982,20029029,20806039,20936779,20471030,16806014,16804002,16713569,16679378,16647242,16624816,16543726,16538176,16538175,16492383,16441767,16400691,16344560,16333988,16202503,16201310,16172114,16133872,16012946,15963589,15963462,15952740,15832029,15748471,15735699,15735003,15662014,15632129,15569319,15544165,15489334,15456888,15324660,15292002,15280693,15232679,15207703,15190186,15165109,15079808,14993262,14981913,14702039,14656967,14605873,14574404,14527417,14503850,14501185,12963728,12941774,12935469,12930708,12865437,12840151,12724406,12687213,12682040,12677068,12670868,12526792,12490434,12477932,12411538,12397061,12391142,12207910,12167701,12167617,12161444,12150907,12149123,12093808,12082592,12082088,12080070,12077419,12008944,11971973,11932435,11912194,11888936,11877453,16896546,11864979,11821413,19626584,19546256,19527514,19486887,19405961,19367718,19351530,19336004,19333379,19241595,19165527,19158413,19019335,19018093,19001088,18987644,18986301,18977241,18975920,18845908,18839337,18819021,18818748,18813331,18772114,18712940,18704483,18607949,18579131,18518860,18508912,18425350,18387829,18382667,18372927,18350254,18323737,18299791,18274635,18166694,18158591,18155754,17977914,17915559,17915554,17891901,17873279,17668636,17645866,17601350,17591867,17582394,17555092,17471537,17428599,17364813,17332370,17278879,17235439,17158748,17081983,17009596,16964243,16948906,20633729,19913121,20430459,20542028,20558613,20568452,20587610,20628086,20692469,20704535,11909948,15189447,15870294,15877962,15967112,16306228,19041431,19085089,19089598,19221897,19339340,19351493,19357992,19439993,19549684,19666596,19771447,19817876,19840767,19851445,19921986,20007907,20012387,20062073,20093746,20300187,20368414,20388090,20498198,20694452,19582769,20199785 3303 AB018045,AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,CR388202,CR759915,DQ388429,DQ451402,M11717,M24743,M59828,X04676,X04677,AB209818,AK096017,AK225692,AK225699,AK291295,AK294182,AK298056,AK301243,AK301574,AK303980,AK304618,AK304652,BC002453,BC009322,NM_005345,BC018740,CR591386,CR593858,CR595673,CR598680,CR599258,CR600856,CR603812,CR605652,CR605852,CR606370,CR606872,CR608110,CR609094,CR609187,CR610055,CR618761,CR620700,CR621778,CR624878,CR626292,DA256622,DA486842 NP_005336,BAA77235,AAD21816,CAI17737,CAI17738,CAI18216,CAI18217,CAM25532,CAI18464,CAI18465,CAI18466,BAB63300,EAX03528,ABD48956,ABD96830,AAA52697,AAA59844,AAA63226,CAA28381,CAA28382,BAD93055,BAG53197,BAF83984,BAG57500,BAG60350,BAG62811,BAG63067,BAG64898,BAG65400,BAG65428,AAH02453,AAH09322,AAH18740,P08107,Q59EJ3,Q9UQC1,ABW03885 Hs.702139,Hs.274402 FLJ54303|FLJ54370|FLJ54392|FLJ54408|FLJ75127|HSP70-1|HSP70-1A|HSP70I|HSP72|HSPA1|HSPA1B HSP70-1/HSP70-2|HSP70.1/HSP70.2|dnaK-type molecular chaperone HSP70-1|heat shock 70 kDa protein 1/2|heat shock 70 kDa protein 1A/1B|heat shock 70kD protein 1A|heat shock-induced protein protein-coding 736398 HSPA1B heat shock 70kDa protein 1B This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq] 1626649,1626646,1626642,1580863 16804002,16713569,16525348,16441767,16344560,16333988,16236267,16202503,16165702,15992611,15963589,15963462,15748471,15714129,15489334,15324660,15236755,15232679,15223990,15165109,14656967,14605873,14574404,14506234,12967056,12730033,12703993,12691826,12544996,12490434,12477932,12411538,12391142,12207910,12082592,12008944,11971973,11932435,11864979,11779758,11730740,11696222,11533664,11231577,10964507,10617616,10216320,3931075,3786141,3470951,3019832,2880793,2858050,16130169,10205060,10859165,19527514,19351530,19085089,19046306,19019335,18987644,18844219,18818748,18813331,18759004,18580445,18551993,18529014,18518860,18478330,18344806,18299791,18191480,17940904,17582394,17558451,17532782,17428599,17364813,17314700,17311111,17301649,17158748,17081983,16964243,16953332,19335985,19759913,20140262,2538825,1700760,1478667,12832005,7906708,16169070,15603737,15671022,16275660,17289661,17342744,18975920,19299493,19439993,19626584,19643584,19661373,19731315,19754858,19840767,19851445,20012387,20043082,20207250,20388090,20498198,9553041,18822209,20568452,20587610,20692469,20704535,20714140 1626649,1626646,1626642 3304 NM_005346,AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,CR388202,CR759915,M24744,M59830,AK295398,AK303967,AL360193,BC001876,BC057397,BC063507,CR602771,CR612907,CR625958,DB015158 NP_005337,AAD21815,BAB63299,EAX03529,CAQ09504,CAQ09505,CAQ09510,CAQ07257,CAQ07258,CAQ07259,AAA59845,AAA63227,BAG58351,BAG64891,AAH57397,AAH63507,P08107,ABM87425 Hs.719966 FLJ54328|HSP70-1B|HSP70-2|HSPA1A HSP70-1/HSP70-2|HSP70.1/HSP70.2|heat shock 70 kDa protein 1/2|heat shock 70 kDa protein 1A/1B|heat shock 70kD protein 1B|heat shock 70kd protein 1a 1643377 BW325_H protein-coding 1353078 HSPA1L heat shock 70kDa protein 1-like This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq] 1580863 9685725,19374512,19351530,19143821,19116923,19085089,19019335,18987644,18977241,18818748,18813331,18551993,18518860,18299791,17934269,17601350,17591867,17582394,17578680,17428599,17060867,17009596,16611259,16565291,16538176,16538175,16525348,16381901,16333988,16202503,15963589,15818324,15489336,15489334,15236755,15165109,14656967,14605873,14574404,12742533,12544996,12477932,12082592,12008944,11779758,11696222,11599570,11334675,11076863,11040178,9373149,9349405,8125298,3927293,3470951,20800603,2880793,1356099,2538825,1700760,17643375,19299493,19439993,19527514,19626584,19643584,19731315,19789190,19840767,19851445,20012387,20069064,20096741,20388090,20498198,19913121,20568452,20587610,20628086,20704535,20714140 3305 AK302179,AK315227,BC034483,BG717447,BX115051,CA443193,D85730,NG_011855,AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,CR388202,DQ383515,M11236,M59829,AK223386,AK295416,NM_005527,CR759915 BAG58366,BAG63545,BAG37656,AAH34483,BAA32521,P34931,Q53FA3,CAL37423,CAL37689,CAL38291,NP_005518,AAD21817,CAI17736,CAI18215,CAI18463,BAB63301,EAX03527,CAQ09503,ABC88476,AAA52696,AAA63228,BAD97106 Hs.690634 HSP70-1L|HSP70-HOM|HSP70T|hum70t heat shock 10kDa protein 1-like|heat shock 70 kDa protein 1-Hom|heat shock 70 kDa protein 1-like|heat shock 70 kDa protein 1L|heat shock 70kD protein-like 1 protein-coding 735843 HSPA2 heat shock 70kDa protein 2 1580863 3037489,8622925,7829106,12493773,18029348,19167759,18977241,18813331,18452162,17940904,17922431,17601350,17532782,17369882,17009596,17007855,16875346,16713569,16517558,16344560,16189514,15489334,15146197,14702039,12782964,12771604,12730033,12477932,11932435,11790298,11334675,11196683,11040178,10964507,10617616,9247342,8601336,7849706,1474216,12832005,7906708,17643375,19661373,16497536 3306 NM_021979,AL049869,CH471061,DQ489378,L26336,U10149,AK097824,BC001752,BC034365,BC036107,BG772858,BI461827,BT009815,CD300159,CN356507,CR592476,CR596961,CR601304,CR601466,DB042367 NP_068814,EAW80864,EAW80865,ABE96830,AAA52698,AAC50076,BAG53534,AAH01752,AAH36107,AAP88817,P54652,ABM83464,ABM86675 Hs.703917 HSP70-2|HSP70-3 OTTHUMP00000180664|heat shock 70kD protein 2|heat shock-related 70 kDa protein 2|testis-specific heat shock protein-related gene hst70 protein-coding 1345994 HSPA3 heat shock 70kDa protein 3 3307 733190 HSPA4 heat shock 70kDa protein 4 1580863,4892102 20569278,8335910,15644312,19116451,19026123,19019335,18977241,18818748,18813348,18799101,18790094,18686014,18651163,18608178,18587674,18550409,18505677,18489731,18456818,18439902,18418731,18322243,18297536,18258197,18162458,17988935,17715156,17616937,17601350,17580361,17553457,17311516,17278883,17278882,17240362,17211576,17206383,17012257,17010992,7529764,9222609,1628823,10934467,11821413,11584023,16169070,12167701,12677068,12670868,12930902,14594945,14503850,14506234,14527417,14559896,15215856,15456888,14743216,17154545,15654337,15603737,16598923,15525661,15538384,16951198,19001415,19486527,20735358,16845230,16790501,16713569,16584808,16579839,16021519,15992611,15950770,15818324,15677475,15592455,15529360,15507967,15378924,14987991,12754272,12526792,12485826,12477932,12356871,11932435,11777905,11707406,10964507,10617616,10524232,9694873,9392437,9161406,9115634,8889548,12832005,7906708,18573886,10330192,9649501,9305631,11116152,9452498,11912194,12482202,19017364,12963786,15556606,15792802,16093354,16293251,16697380,16884686,16919237,16943429,16954220,17024176,17158748,17167422,17274640,17512523,17873020,18029348,18088459,18223694,18248624,18426646,18806873,19205928,19231003,19420297,19475432,19527514,19529862,19543852,19544471,19598015,19604401,19620938,19716411,19758187,19764559,19766166,19802386,19919883,20026329,20069064,20132183,9247342,15198682,15254225,15344906,15358145,15383005,15466472,20300983,16135753,16169850,16314389,16507982,16621797,16714300,20029029,20498198,20516149,20632817,20426530,18657505,20801936,20809635 4892102 3308 AC113410,CH471062,X67640,AB023420,AB209151,AK294859,AK295847,AK297762,AK299710,AK300050,AK300770,AK303382,AK304578,AK311097,AK311125,AK311135,AK311224,AK311299,AK311316,AK311422,AK311457,AK311465,AK311466,AK311471,NM_002154,AK311483,AK311615,AK311632,AK315862,AK315871,AK315875,AK315887,BC002526,BC110861,BC126122,BC126124,BG723797,BQ431980,BT007375,BU171424,BU686725,CF145856,CR601827,L12723,X67643 NP_002145,EAW62294,EAW62295,CAA47885,BAA75062,BAD92388,BAG57963,BAG58655,BAG60110,BAG61610,BAG61859,BAG62435,BAG64438,BAG65366,BAF98753,BAF98762,BAF98766,BAF98778,AAH02526,AAI10862,AAI26123,AAI26125,AAP36039,AAA02807,CAA47886,O14992,P34932,Q59GF8,Q7KYN0,Q9BUK9,ADR83280 Hs.90093 APG-2|HS24/P52|MGC131852|RY|hsp70|hsp70RY heat shock 70 kDa protein 4|heat shock 70 kda protein 4|heat shock 70-related protein APG-2|heat shock 70kD protein 4|heat shock protein, 110 kDa protein-coding 1350877 HSPA4L heat shock 70kDa protein 4-like 1580863 15489334,14702039,12952923,12477932,12423363,11389747,10524232,17353931,19169850,15815621,17024176,20800603 22824 NM_014278,AC093591,CH471056,AB023421,AK027822,AK302115,AK303053,AK307464,AY290862,BC040560,EF197155 NP_055093,AAY40975,EAX05197,EAX05198,BAA75063,BAG51382,BAG63494,BAG64172,AAP44471,AAH40560,ABM69040,O95757,Q53ZP9 Hs.135554 APG-1|Osp94 OTTHUMP00000219888|OTTHUMP00000219889|OTTHUMP00000219890|heat shock 70 kDa protein 4-like protein|heat shock 70 kDa protein 4L|heat shock 70-related protein APG-1|heat shock protein (hsp110 family)|osmotic stress protein 94 protein-coding 736447 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) When Chinese hamster K12 cells are starved of glucose, the synthesis of several proteins, called glucose-regulated proteins (GRPs), is markedly increased. Hendershot et al. (1994) [PubMed 8020977] pointed out that one of these, GRP78 (HSPA5), also referred to as 'immunoglobulin heavy chain-binding protein' (BiP), is a member of the heat-shock protein-70 (HSP70) family and is involved in the folding and assembly of proteins in the endoplasmic reticulum (ER). Because so many ER proteins interact transiently with GRP78, it may play a key role in monitoring protein transport through the cell.[supplied by OMIM] 1580863 20145413,20176102,12665508,16130169,10085239,15308636,12493773,19533686,19470730,19411306,19309398,19228285,19212831,19188365,19165527,19164805,19151922,19107326,19103594,19097122,19014922,18977241,18842681,18840615,18790759,18781276,18776923,18757373,18720263,18708359,18708056,18556570,18482745,18411300,18403493,18343577,18331622,18278507,18268478,18192872,18083346,18064632,18022401,17991893,17942541,17936241,17932454,17931354,17906960,17848573,17805346,17728248,17670764,17640713,17601350,17431395,17220478,17081065,17062670,17002502,16912197,16912156,16731524,16543232,16497268,16488447,16472112,16428306,16400691,16329989,16282978,16236267,16182273,16169070,16168956,15952740,15949590,15899857,15817150,15778089,15664986,15657421,15635413,15618547,15525676,15514946,15489334,15456888,15324660,15146195,15077298,15009096,12840015,12713871,12643545,12637535,12621026,12552023,12516782,12514190,12480769,12477932,12475965,12411443,12397072,12383251,12359150,12356756,12194978,12097557,12076252,11943137,11932435,11907036,11790298,11752154,11751874,11719466,11476899,11294872,11162507,11160188,11013075,10964928,10964507,10906332,10887119,10777498,10760948,10617616,10461883,10397760,10197448,10049727,9885241,9492298,9409741,9305856,9150948,9150946,9006956,8020977,7957306,7878056,7724523,3122216,3087629,2840249,2294010,1649196,1602151,1480470,12832005,10514465,1900540,7906708,11162551,10970892,11765911,20605795,20735358,19017364,20979610,11181571,16223484,17215244,17337485,17643375,18264092,18502753,19128512,19296942,19386345,19421146,19482905,19546472,19616278,19626590,19632185,19671925,19713465,19718440,19722195,19741001,19776128,19786088,19816510,19823030,19838160,19838163,19842229,19845896,19950238,20017148,20072656,20204278,20208072,20213805,20360535,20525207,8666824,15166316,20720212,16344560,20672702,20492754,20506407,20651985,20664690,20739513,20936779,20484513,16522924,20473863,20082722,20497865 3309 BC020235,X87949,NM_005347,AL354710,CH471090,CS288575,DQ385847,M19645,X59969,AF188611,AF216292,AJ271729,AK129617,AK293604,AA433933,DA549454,NG_027761 BAG57068,AAH20235,CAA61201,P11021,ABM83099,ABM86294,NP_005338,EAW87620,EAW87621,CAK18759,ABD04090,AAA52614,CAA42595,AAF13605,AAF42836,CAB71335,CAQ08732 Hs.728157 BIP|FLJ26106|GRP78|MIF2 heat shock 70kd protein 5|78 kDa glucose-regulated protein|GRP-78|Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD)|endoplasmic reticulum lumenal Ca(2+)-binding protein grp78|glucose-regulated protein, 78-kD|heat shock 70 kDa protein 5|heat shock 70kD protein 5 (glucose-regulated protein, 78kD)|immunoglobulin heavy chain-binding protein protein-coding 1346401 HSPA6 heat shock 70kDa protein 6 (HSP70B') 1580863 20140262,2327978,19019335,18977241,18818748,18579131,18229458,17601350,15489334,14702039,12477932,11932435,10964507,10617616,10413683,9373149,8125298,7545947,3184191,1346391,12832005,7906708,17643375,18347947,18372927,19074885,19423540,19527514,19773279,20348092,20406964,20438785,20084477,16497536 3310 NM_002155,AL590385,DQ521571,X51757,AK093925,AK223362,AK295212,AK312756,BC004279,BC035665,BQ008960,BQ217460,X51758,CR623806 NP_002146,CAI16120,ABF47108,CAA36061,BAG52788,BAD97082,BAG58207,BAG35622,AAH04279,AAH35665,CAA36062,P17066,Q53FC7,ABM83372,ABM86583 Hs.654614 heat shock 70 kDa protein 6|heat shock 70 kDa protein B'|heat shock 70kD protein 6 (HSP70B') protein-coding 1349004 HSPA7 heat shock 70kDa protein 7 (HSP70B) 1580863 18584345,17915556,17915554,17163517,17044073,11072087,3927293,1346391,12107410,8889548 3311 NR_024151,AF093759,AL451067,BM677874,CA391777,DR004990 P48741 Hs.662180 HSP70B pseudo 736219 HSPA8 heat shock 70kDa protein 8 The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Two alternatively spliced variants have been characterized to date. [provided by RefSeq] 1580863,2326084 19913121,20628086,16037132,16497536,16621797,16740632,20029029,20032463,20516149,20806039,8530083,10954706,16531398,11093761,12493773,8713105,19397879,19321452,19254810,19110265,19098309,19056482,19014922,19009367,18988734,18977241,18772114,18684711,18667436,18600213,18500754,18493267,18434395,18380807,18307834,18299791,18261988,18231578,17954934,17934269,17929041,17878160,17876681,17785435,17636261,17601350,17569659,17397964,17296233,17284448,17240362,17081065,17022977,16903783,16817320,16696853,16365278,16324147,16236267,16169070,16100000,15972823,15963462,15952740,15795242,15694383,15644312,15635413,15625011,15592455,15497503,15489334,15456888,15336565,15324660,15302935,15292236,15194794,15086793,15048123,15009096,14993262,14991745,14760703,14702039,14684748,14612456,14532270,12890148,12850307,12840151,12670868,12502735,12477932,12421917,12356871,11932435,11909948,11790298,11741305,11679576,11276205,11241348,10976766,10964507,10722728,10635329,10625686,10617616,10330192,10205060,10197448,10075921,9873016,9830037,9694898,9675148,9463375,9373149,9305631,9269769,8892974,8663341,8125298,7826371,7673249,7639722,7578144,7559589,7545947,3037489,2966179,2155506,1975516,1586970,1286667,12832005,7906708,18573886,19019082,12150907,11101529,12391170,11297531,16189514,12481031,11116152,11707406,12724406,14499622,9738006,8940078,9235949,15802566,12750892,20471030,11031247,11230127,11252894,14557246,15870294,15936278,16093354,16225871,16275660,16293251,17289661,17620599,17643375,18550537,19041431,19551494,19578796,19686046,19802014,20003465,20018937,20300519,20457599,20084477,20729196,20804732 2326084 3312 NM_006597,NM_153201,AP000926,CH471065,Y00371,AB034951,AB073886,AF217511,AF352832,AK000571,AK096100,AK129885,AK222628,AK222785,AK292067,AK300404,AK303935,AK310467,BC007276,BC008907,BC015699,BC016179,BC016660,BC019816,BC042163,CR597390,CR598352,CR598455,CR599778,CR605894,CR609237,CR614382,CR617847,CR618452,CR618855,CR619085,CR623327 NP_006588,NP_694881,EAW67539,EAW67540,EAW67541,EAW67542,CAA68445,BAB18615,AAF67622,AAK17898,BAA91262,BAG53212,BAD96348,BAD96505,BAF84756,BAG62134,BAG64863,AAH07276,AAH08907,AAH15699,AAH16179,AAH16660,AAH19816,P11142,Q53GZ6,Q53HF2,Q96BE0,Q96H53,Q96IS6,Q9NWW3,Q9NZ87,ABM82071,ABM85251 Hs.180414 HSC54|HSC70|HSC71|HSP71|HSP73|HSPA10|LAP1|MGC131511|MGC29929|NIP71 LPS-associated protein 1|N-myristoyltransferase inhibitor protein 71|constitutive heat shock protein 70|heat shock 70kD protein 8|heat shock 70kd protein 10|heat shock cognate 71 kDa protein|heat shock cognate protein 54|heat shock cognate protein, 71-kDa|heat shock protein 8|lipopolysaccharide-associated protein 1 protein-coding 1323451 HSPA9 heat shock 70kDa protein 9 (mortalin) The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein plays a role in the control of cell proliferation. It may also act as a chaperone. [provided by RefSeq] 1580863 16130169,12493773,7684501,18063578,18977241,18829503,18770009,18219256,17934217,17719568,17635236,17601350,17573779,17460192,17050040,16619038,16425258,16344560,16329989,16236267,16176931,15957980,15635413,15489334,15324660,14702039,12827241,12729798,12646231,12477932,12470827,11932435,11900485,11869473,11790298,11187902,10964507,10838077,10617616,10510314,9373149,20152901,20392697,20877624,20199942,9150948,8313870,8125298,8076819,7829505,7698336,1286669,12832005,7906708,12009301,10411904,15520177,17643375,18029348,19280369,19657588,19739077,19940151,20053669,20153329,7896880,20100649 3313 NM_004134,AC011385,AC113340,CH471062,DQ531046,AK023317,AK222758,AK225488,AK293990,AK297795,AK297897,AK315177,AU130219,BC000478,BC024034,BC030634,BX426279,CR599268,CR603588,CR618446,DQ185038,L11066,L15189,DC356852,DQ480334 NP_004125,EAW62128,EAW62129,ABF50973,BAD96478,BAH11643,BAH12669,BAH12688,BAG37618,AAH00478,AAH24034,AAH30634,ABD14419,AAA67526,P38646,Q2F839,Q8N1C8,ABZ92510,ABF19573 Hs.184233 CSA|GRP-75|GRP75|HSPA9B|MGC4500|MOT|MOT2|MTHSP75|PBP74|mot-2 75 kDa glucose-regulated protein|heat shock 70 kDa protein 9|heat shock 70kD protein 9B|heat shock 70kda protein 9b (mortalin-2)|mortalin, perinuclear|mortalin-2|p66-mortalin|peptide-binding protein 74|stress-70 protein, mitochondrial protein-coding 1349371 HSPA9A heat shock 70kDa protein 9A (mortalin-1) 23707 1353927 HSPA9P heat shock 70kDa protein 9 pseudogene 9847074 266724 NG_002380,AC009302 HSPA9BP|HSPA9P heat shock 70kda protein 9b pseudogene pseudo 1350097 HSPAP1 heat shock 70kDa protein pseudogene 1 3001086,3684609 3314 NG_001144,M12119,AC002377,Y00481 HSPAP1 pseudo 732480 HSPB1 heat shock 27kDa protein 1 The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq] 1580863 19464326,20363977,16840786,16790501,16624816,16598774,16574891,16565220,16487519,16436384,16407830,16400691,16368711,16340246,16339078,16240287,16215937,16169070,16126176,16114012,16097034,16087758,16039988,15976317,15969449,15952740,15806174,15790570,15728188,15662019,15649839,15581903,15542604,15489334,15342556,15302935,15274119,15272315,15265704,15122254,15122253,15013707,14715258,14594798,12917439,12897149,12855565,12853948,12838549,12740362,12506142,12489163,12482203,12477932,12100179,12087068,11836590,11779227,11740592,11700327,11546764,11528513,11342557,11193028,11158571,11042204,10980706,10777697,10751411,10421803,9628874,9344682,9110174,8774846,8619474,8325890,7799959,3714473,2743305,2295696,2243808,1763035,1730670,1602151,1560006,20385876,20439495,11003656,16130169,10859165,12493773,19461484,19373869,19350847,19335999,19214136,19176359,19088045,19020532,18952241,18950704,18949417,18832141,18800238,18720982,18692580,18587268,18573886,18477563,18472181,18465403,18442089,18418731,18390476,18344398,18167217,18167130,18096692,18089808,18066588,18031542,18007587,17974989,17949744,17928890,17916631,17915561,17823891,17673262,17661346,17650072,17623484,17622316,17616692,17597071,17576382,17570131,17522120,17446863,17353931,17350752,17342744,17277149,17254968,17213227,17206383,17202147,17081983,17004241,16964243,16935933,16923754,16916647,16906418,1332886,11784858,15692053,20410505,16548883,18320359,18423118,19384818,19506078,19597476,19615732,19643972,19656944,19675578,19707199,19767773,19955928,19961396,20007907,20054128,20093746,20149037,20178975,20209605,20231684,20299368,20304146,20378850,20382164,20694586,20557877,19842058,20491124,21084594,19540014,20540527,20694452 3315 NM_001540,NG_008995,AC006388,CH471220,DQ379985,L39370,AB020027,AK296890,AK311446,AK311894,AL050380,BC000510,BC012292,BC012768,BC014920,BC073768,BP231480,BT019888,CR407614,CR536489,CR591310,CR603713,CR605148,CR606208,CR607252,CR608836,S74571,U90906,X16477,X54079 NP_001531,EAW71803,ABC88475,AAA62175,BAB17232,BAG59449,BAG34835,AAH00510,AAH12292,AAH12768,AAH14920,AAH73768,AAV38691,CAG28542,CAG38728,AAB20722,AAB51056,CAA34498,CAA38016,P04792,ABM82230,ABM84275,ABM85415,ABM87668 Hs.520973 CMT2F|DKFZp586P1322|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27 28 kDa heat shock protein|HSP 27|estrogen-regulated 24 kDa protein|heat shock 27 kDa protein|heat shock 27kD protein 1|heat shock protein beta-1|stress-responsive protein 27 protein-coding 1345374 HSPB11 heat shock protein family B (small), member 11 737633 17207965,18154656,17275951,15489334,12477932,11042152,9373149,8125298,2018407,16189514,19253336 737633 51668 AF100747,AF416725,AF417114,AK225916,BC005245,BC045699,NM_016126,AL031427,CH471059 ADQ32445,EAX06718,EAX06719,AAD43011,AAQ03618,AAQ03994,AAH05245,Q9Y547,NP_057210,EAX06717 Hs.525462,Hs.624686 C1orf41|HSPCO34|IFT25|PP25 heat shock protein beta-11|intraflagellar transport 25 homolog|placental protein 25 protein-coding 731772 HSPB2 heat shock 27kDa protein 2 70771,1580863 20592365,19464326,9490724,14594798,9344664,19429074,19325007,19238749,19132982,18755499,18701018,18651163,18624915,18471985,18440775,18390793,18387368,18299320,18061943,17916352,16598774,15489334,14963027,14729728,12897149,12832059,12829720,12748284,12705895,12700631,18566345,18494762,12611892,12510153,12503731,12477932,12473058,11926998,11697892,11313745,10625651,9687510,8227983,17974989,18950704,11342557,9628874,19513626,19224398,19331697,19520919,19656912,19680556,19901540,19930842,20043073,20065497,20101233,20378664,20336542,17524270,16598923,20456980 70771 3316 NM_001541,AP000907,AY208910,CH471065,EF444955,EF444984,U75898,AB096250,AI131288,BC109393,CR457408,D89617,S67070 NP_001532,AAO18081,EAW67168,EAW67169,ACA05948,ACA06000,AAB82757,AAI09394,CAG33689,BAA24004,AAB28816,Q16082 Hs.709660 HSP27|Hs.78846|LOH11CR1K|MGC133245|MKBP DMPK-binding protein|heat shock 27kD protein 2|heat shock protein beta-2|heat-shock protein beta-2 protein-coding 68484 HSPB3 heat shock 27kDa protein 3 1302323,1580863 19464326,12477932,8972725,9858786,16225851,16169070,10625651,20142617 1302323 8988 BX106905,N74672,NG_027758,NM_006308,AC092366,CH471123,AK314215,BC126272,BC132869,CR450314,U15590,Y17782 NP_006299,EAW54893,BAG36889,AAI26273,AAI32870,CAG29310,AAD05360,CAA76848,Q12988,Q6ICS9,ADR82829 Hs.41707 DHMN2C|HMN2C|HSPL27 HSP 17|heat shock 17 kDa protein|heat shock 27kD protein 3|heat shock protein beta-3|protein 3 protein-coding 1343256 HSPB6 heat shock protein, alpha-crystallin-related, B6 HSPB6 is associated with actin (see MIM 102540) and modulates smooth muscle relaxation (Tessier et al., 2003 [PubMed 12842460]).[supplied by OMIM] 1580863 16225851,18790732,18787533,18755793,17109079,17084643,15489334,15057824,14717697,14702039,12842460,12820654,12477932,8195168,1602151,19491193,19646995,19845507,19850943,19464326 126393 AK297852,BC068046,CR603021,CR607202,CR618274,NM_144617,AC002398,AJ278121,AK026458,AK056951 BAG60184,AAH68046,O14558,Q8IVN0,NP_653218,AAB81196,CAC81952,BAB71323 Hs.534538 FLJ32389|Hsp20 heat shock 20 kDa-like protein p20|heat shock protein beta-6 protein-coding 736091 HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) 61631,1580863 19913121,20628086,20124441,19464326,20038796,20877624,20975947,10593960,16710414,16189514,15489334,14702039,12477932,14594798 61631 27129 CR749419,NM_014424,AL096775,AL355994,CH471167,AF155908,AJ243191,AK057295,AK075151,AK092275,AK095911,AL832181,BC006319,BX537990,CR749298 CAH18260,Q5T5Q0,Q5T5Q1,Q5T5Q2,Q68DG0,Q7Z3C1,Q8N241,Q9UBY9,ABM83642,ABM86892,ABW03834,ACE87371,ACE86687,NP_055239,CAB86671,CAI16133,CAI16134,CAI16135,CAI16136,EAW51760,EAW51761,EAW51762,AAF20022,CAB63258,BAG51899,BAG52075,BAC03846,AAH06319,CAD97949,CAH18153 Hs.502612 DKFZp779D0968|FLJ32733|cvHSP OTTHUMP00000011124|OTTHUMP00000011125|cardiovascular heat shock protein|heat shock 27kD protein family, member 7 (cardiovascular)|heat shock protein beta-7 protein-coding 1346187 HSPB8 heat shock 22kDa protein 8 The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq] 1580863 14594798,10833516,11256614,19246680,18676680,18298377,18229450,18094623,18006821,18006506,17922839,17722063,17304582,17173073,17033167,16935933,16795043,16709864,16485107,16225851,16189514,16086267,15879436,15541337,15498874,15489334,15122253,15021985,14702039,12832417,12477932,12456486,11816564,11591653,11470154,11342557,11295034,11230166,11180006,11085516,10777663,8817349,8433103,7125978,5813127,3789668,3022865,1517763,20858900,19464326,19170196,19625176,19692168,19783089,19845507,20237496,20819778,20157854,20570967 26353 NM_014365,NG_007953,AC084880,CH471054,AF133207,AF191017,AF217987,AF250138,AK312501,AL136936,BC002673,BT006876,CR533453,CR590762,CR591785,CR594671,CR597922,CR599692,CR604459,CR607849,CR608992,CR611633,CR611944,CR612820,CR613252,CR614248,CR614666,CR616260,CR617456,CR621727,AK001825 NP_055180,EAW98144,AAD55359,AAF09481,AAG17230,AAF65562,BAG35403,CAB66870,AAH02673,AAP35522,CAG38484,Q9UJY1,ABM87403,ABW03880 Hs.400095 CMT2L|DHMN2|E2IG1|H11|HMN2|HMN2A|HSP22 E2-induced gene 1 protein|alpha-crystallin C chain|heat shock 27kDa protein 8|heat shock protein beta-8|protein kinase H11|small stress protein-like protein HSP22 protein-coding 1319285 HSPB9 heat shock protein, alpha-crystallin-related, B9 1580863 12477932,11470154,5503857,15503857,15489334,14702039,12820654,19464326 94086 NM_033194,AC105024,AJ302068,CH471152,AK093488,AK130947,BC093991,BC093993,BX280091 NP_149971,CAC35727,EAW60804,BAG52728,AAH93991,AAH93993,Q9BQS6 Hs.620611 CT51|FLJ27437 cancer/testis antigen 51|heat shock protein beta-9|small heat shock protein B9 protein-coding 1352308 HSPBAP1 HSPB (heat shock 27kDa) associated protein 1 17568411,14702039,12477932,11978969,16169070 79663 CR617201,NM_024610,AC048348,CH471052,AF400663,AK026276,AK096705,AK289410,BC011897,BC017763,BC063629,CR598288 Q96EW2,Q9H641,ABM83992,ABM87318,NP_078886,EAW79463,EAW79464,EAW79465,EAW79466,AAM64044,BAB15425,BAC04847,BAF82099,AAH11897,AAH17763,AAH63629 Hs.29169 FLJ22623|FLJ39386|PASS1 27 kDa heat shock protein-associated protein 1|HSPB1-associated protein 1|heat shock 27 kDa associated protein|protein associated with small stress protein 1|protein associating with small stress protein PASS1 protein-coding 1347241 HSPBL1 heat shock 27kDa protein-like 1 2538929 3317 1354470 HSPBL2 heat shock 27kDa protein-like 2 pseudogene 12838549,2538929 653553 AL138751,NG_013115 HSPBL2 pseudo 1345010 HSPBL3 heat shock 27kDa protein-like 3 pseudogene 2538929 653364 NG_008236,AF235097 HSPBL3 pseudo 734029 HSPBP1 HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 20694586,9830037,16169070,19183265,18987994,18986301,18261988,17855353,17208201,16950797,16713569,16677834,16341674,16303743,16189514,16169850,15694338,15489334,15215316,14761400,14702039,14503850,12651857,12477932,12417338,10786638,9727490,16831871,19659607 23640 NM_012267,NM_001130106,AC008974,AC116338,AC116342,CH471135,CQ783429,AB020592,AF093420,AF187859,AF217996,AK075293,AK129755,AK130636,AK130781,AK294358,BC001236,BC002373,BU630679,CR457118,CR590595,CR596554,CR599157,CR600655,CR604616,CR605388,CR606031,CR606354,CR608022,CR608420,CR608487,CR609194,CR614475,CR615211,CR615309,CR615864,CR617551,CR618161,CR619038,CR619558,CR620558,CR620770,CR621049,CR625784,BM853303 NP_036399,NP_001123578,EAW72355,EAW72356,EAW72357,EAW72358,CAF86633,BAB18742,AAC79703,AAF35833,AAG17238,BAG52102,BAC85399,BAG57622,AAH01236,AAH02373,CAG33399,Q9NZL4,ABM84496,ABM85350,ABW03719 Hs.53066 FES1 Hsp70 binding protein 1|heat shock protein-binding protein 1|hsp70 interacting protein|hsp70-binding protein 1|hsp70-binding protein 2|hsp70-interacting protein 1|hsp70-interacting protein 2|hspBP2 protein-coding 2303690 HSPC072 hypothetical LOC29075 16344560,14702039,12477932,11042152 29075 NR_026883,NR_026884,AL035563,CH471133,AF161557,AK094606,BC029555,DA760399,DB097906 EAX10225,EAX10226,AAF29044,Q9NZW7 Hs.584899 miscrna 1604820 HSPC152 hypothetical protein HSPC152 15231747,17353931,15635413,15489334,12477932,11042152,10931946,18539146 51504 NM_016404,AP001453,CH471076,AF110774,AF161501,AF229068,AK312050,BC017172,BC029482,BC105294,CS488887 NP_057488,EAW74251,EAW74252,EAW74253,AAF14857,AAF29116,AAF82266,BAG34986,AAH17172,AAH29482,AAI05295,Q9UI30,ABM83187,ABM86389,CAM55961 Hs.333579 HSPC152|HSPC170|TRM112|TRMT11-2 HSPC170 protein|TRM112-like protein|tRNA methyltransferase 112 homolog protein-coding 1606012 HSPC159 galectin-related protein 11256614,18320588,18219197,16682780,16381901,15489336,12477932,11076863,11042152 29094 NM_014181,AC008074,CH471053,AF161508,AK025603,AK314656,BC036082,BC062691,CR593568,CR625876,DR001728 NP_054900,EAW99942,EAW99943,AAF29123,BAG37215,AAH36082,AAH62691,Q3ZCW2,CAL38047 Hs.372208 GRP|MGC33751|MGC71953 OTTHUMP00000202181|OTTHUMP00000202188|galectin-related protein protein-coding 1343669 HSPCAL4 heat shock 90kDa protein 1, alpha-like 4 1740332 3325 1348479 HSPCP2 heat shock 90kDa protein 1, beta pseudogene 2 3328 733895 HSPD1 heat shock 60kDa protein 1 (chaperonin) This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Two pseudogenes, both located on chromosome 8, have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq] 1624212,1580863,1624216,1624229,1624218,1624228,1624230,1624200,1624204,1581882,1624213,1624232,1624234,1624236,1624240,1624244,1624243,1624250,1624217,1624233,1624238,1624246 20362058,20471030,11862386,11860186,11790298,11689615,11591125,11488911,11337467,11230124,11145923,11144526,10960671,10811634,10731000,10677329,10632533,10499815,10467106,10449265,10382997,10326659,10231004,10231001,10205159,9890926,9724719,9150948,9150946,9051195,8979276,8976559,8882520,8845058,8689794,8678928,8676499,8671282,16320351,16254226,16253146,16236267,16215457,16130169,16116071,15957980,15952740,15879154,15784682,15763499,15661886,15635413,15592455,15590416,15546885,15529360,15489334,15324660,15251360,15249499,15242332,14500649,12965262,12942564,12890148,12869561,12813381,12768547,12686536,12665801,12611882,12594256,12552239,12515899,12493773,12483302,12477932,12461076,12406306,12387818,12218165,12215374,12195124,12105158,12070120,11932435,11898127,11888933,11807771,10205158,18086682,11050098,16148103,17823127,17164250,10663613,9243807,11445587,18229457,19369584,19346294,19336475,19306954,19264393,19261350,19210880,19207939,19132982,19110265,19109096,19106391,19022255,19008717,18987317,18815895,18790094,18692161,18571143,18458233,18400758,18399535,18372523,18322079,18320357,18240224,17925998,17915559,17715156,17675567,17670764,17588138,17553457,17420924,17420921,17206383,17202307,17174952,17075864,17072495,16978514,16964243,16887805,16843693,16767222,16705742,16482509,20806039,20936779,20351780,20877624,8559246,7911805,7895732,7518175,2907406,2568584,7907543,2079031,1980192,1972619,1602151,1516759,1347942,1286669,14634555,16075307,15875659,17681147,12234937,10508170,11777905,14968112,15371451,17540176,17643375,18029348,18256040,18319262,19004824,19205928,19386281,19423133,19475432,19565483,19568603,19576649,19706612,19764566,19875724,19913588,20193073,20694586,20708221,20082317,20169074 1624212,1624216,1624229,1624218,1624228,1624230,1624200,1624204,1581882,1624213,1624232,1624234,1624236,1624240,1624244,1624243,1624250,1624217,1624233,1624238,1624246 3329 NM_199440,NM_002156,NG_008915,AC010746,AC020550,AC114809,AF380943,AJ250915,CH471063,DQ217936,AK297305,AK298368,AK298632,AK298844,AK312240,AU098504,BC002676,BC003030,BC047350,BC067082,BC073746,BG701476,BX647145,CR593187,CR599532,CR619688,CR621020,EU719626,M22382,M34664,AK301276,CS611909 NP_955472,NP_002147,AAX93145,AAY24018,AAK60260,CAB75426,EAW70148,EAW70149,EAW70150,EAW70151,EAW70152,EAW70153,ABB01006,BAH12542,BAH12768,BAH12833,BAH12883,BAG35173,AAH02676,AAH03030,AAH67082,AAH73746,ACE06961,AAA60127,AAA36022,P10809,Q53QD5,Q53SE2,Q96RI4,ABM84340,ABM87770,BAH13448,CAO02240 Hs.727543,Hs.595053 CPN60|GROEL|HLD4|HSP60|HSP65|HuCHA60|SPG13 60 kDa chaperonin|60 kDa heat shock protein, mitochondrial|HSP-60|P60 lymphocyte protein|chaperonin 60|heat shock protein 60 (liver)|heat shock protein 65|mitochondrial matrix protein P1|short heat shock protein 60 Hsp60s1 protein-coding 2301501 HSPD1P1 heat shock 60kDa protein 1 (chaperonin) pseudogene 1 20193073 643300 NG_008757,AC138940 HSPD1-2P pseudo 3563938 HSPD1P10 heat shock 60kDa protein 1 (chaperonin) pseudogene 10 20193073 644016 AL096817,AL160258,NG_021117 HSPD1-4P pseudo 3497316 HSPD1P11 heat shock 60kDa protein 1 (chaperonin) pseudogene 11 11237011,15372022,15496913,20193073 100359396 AC008840,NG_016480 HSPD1-11P pseudo 2301275 HSPD1P12 heat shock 60kDa protein 1 (chaperonin) pseudogene 12 20193073 283320 NG_003217,AC006511 HSPD1-10P pseudo 3028763 HSPD1P13 heat shock 60kDa protein 1 (chaperonin) pseudogene 13 11237011,15496913,16554811,20193073 100462987 AP000641,NG_023061 HSPD1-16P pseudo 3231841 HSPD1P14 heat shock 60kDa protein 1 (chaperonin) pseudogene 14 20193073 100287140 AC116993,AL121980,NG_022774 HSPD1-17P pseudo 3077860 HSPD1P15 heat shock 60kDa protein 1 (chaperonin) pseudogene 15 20193073 646273 AC106803,NG_016584 HSPD1-15P pseudo 3028765 HSPD1P16 heat shock 60kDa protein 1 (chaperonin) pseudogene 16 11237011,14574404,15496913,20193073 100462985 AL390960,NG_023060 HSPD1-13P pseudo 3028764 HSPD1P17 heat shock 60kDa protein 1 (chaperonin) pseudogene 17 11237011,15164054,15496913,20193073 100462986 NG_023064,AL138760 HSPD1-19P pseudo 3497315 HSPD1P18 heat shock 60kDa protein 1 (chaperonin) pseudogene 18 11237011,15372022,15496913,20193073 100359397 NG_016481,AC063980 HSPD1-1P pseudo 2946602 HSPD1P19 heat shock 60kDa protein 1 (chaperonin) pseudogene 19 11237011,11780052,15496913,20193073 100463288 AL354984,NG_023062 HSPD1-18P pseudo 1352375 HSPD1P2 heat shock 60kDa protein 1 (chaperonin) pseudogene 2 20193073,1980192 645808 NG_001146,AC130365,M34662 HSP60P2|HSPD-9P|HSPDP2 pseudo 3028762 HSPD1P20 heat shock 60kDa protein 1 (chaperonin) pseudogene 20 11237011,15496913,16541075,20193073 100462989 AC074270,NG_023065 HSPD1-20P pseudo 3028761 HSPD1P21 heat shock 60kDa protein 1 (chaperonin) pseudogene 21 11237011,11780052,15496913,20193073 100462990 AL031663,NG_023059 HSPD1-3P pseudo 1351221 HSPD1P3 heat shock 60kDa protein 1 (chaperonin) pseudogene 3 1980192,20193073 3332 NG_001145,AC130360,M34660,M34661,M34663 HSP60P1|HSP60P3|HSP60P4|HSPD1-7P|HSPDP1|HSPDP3|HSPDP4 pseudo 2301488 HSPD1P4 heat shock 60kDa protein 1 (chaperonin) pseudogene 4 20193073 644745 NG_008756,AC097104 HSPD1-5P pseudo 1344367 HSPD1P5 heat shock 60kDa protein 1 (chaperonin) pseudogene 5 1980192,20193073 345041 NG_008700,AC109811 HSPD1-8P|HSPDP5 pseudo 1346956 HSPD1P6 heat shock 60kDa protein 1 (chaperonin) pseudogene 6 1980192,20193073 645548 NG_008828,AC105749 HSPD1-6P|HSPDP6 pseudo 1347192 HSPD1P7 heat shock 60kDa protein 1 (chaperonin) pseudogene 7 20193073,10830953 54047 NG_000920,AF227510 HSPD1-22P|HSPDP7 pseudo 2837641 HSPD1P8 heat shock 60kDa protein 1 (chaperonin) pseudogene 8 20125193,20193073 647298 AL354869,NG_011337 HSPD1-12P pseudo 2902551 HSPD1P9 heat shock 60kDa protein 1 (chaperonin) pseudogene 9 20193073 646910 AL356495,NG_016588 HSPD1-14P pseudo 1349707 HSPDP1 heat shock 60kDa protein 1 (chaperonin) pseudogene 1 1980192 3330 NG_001145,M34660 HSP60P1 pseudo 1353921 HSPDP4 heat shock 60kDa protein 1 (chaperonin) pseudogene 4 1980192 3333 NG_001148,M34663 HSP60P4 pseudo 733544 HSPE1 heat shock 10kDa protein 1 (chaperonin 10) This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. [provided by RefSeq] 20877624,10205158,7916212,12483302,7698325,19520060,19142874,18987317,18500265,18465204,18329043,17419711,17278877,17072495,16979655,16502466,16253146,16169070,16100270,15978542,15816004,15635413,15590416,15546885,15489334,15146197,15059967,14525625,12970367,12967636,12860287,12703979,12477932,12387818,12220543,11898127,11689615,11329013,11210183,11050098,10763410,7914093,7912672,17353931,18319262,19004824,19903031,9989505 3336 NM_002157,NG_008914,AC020550,AF107894,AF109872,AJ250915,CH471063,AK312104,BC023518,BG188453,CN264788,CR407688,CR625606,U07550,X75821 NP_002148,AAX93146,AAC95387,AAC96332,CAB75425,EAW70154,EAW70155,EAW70156,EAW70157,EAW70158,EAW70159,EAW70160,EAW70161,EAW70162,EAW70163,BAG35040,AAH23518,CAG28616,AAA50953,CAA53455,P61604,Q9UNM1,ABM83886,ABM87206 Hs.1197 CPN10|GROES|HSP10 10 kDa chaperonin|10 kDa heat shock protein, mitochondrial|EPF|OTTHUMP00000205751|OTTHUMP00000205752|chaperonin 10|early-pregnancy factor|heat shock 10 kda protein 1|heat shock 10kD protein 1 (chaperonin 10) protein-coding 1354138 HSPEP1 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 1 140895 NG_001006,AL133419 HSPEP1|bA101E14.1 pseudo 1350790 HSPEP2 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 2 326300 NG_002552,AL136038 HSPEP2 pseudo 1351428 HSPG2 heparan sulfate proteoglycan 2 Heparan sulfate proteoglycan is a major component of basement membranes, where the molecule may be involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. This form of HSPG, known as HSPG2 or perlecan, is encoded by a gene that maps to chromosome 1. The gene for the form of HSPG associated with the cell surface of fibroblasts has been mapped to human chromosome 8 (MIM 142460).[supplied by OMIM] 1624255,1624258,1624267,1624254,1624265,1580863 20507176,1569102,11956183,19506372,19066875,18658137,18024432,17356275,16984910,16914267,16620836,16407285,16335952,16283481,16269412,16129435,15905187,15657057,15567441,15240572,15211644,15081423,15031130,14974815,14973356,14702039,14630925,14625044,14563633,12900424,12811819,12754519,12477932,12435733,12036876,11968010,11941538,11847221,11847210,11493006,11279527,11148217,11101850,10702276,10579711,10545953,9733643,9692901,9688542,9431988,9313766,9307034,9136074,8541852,8234307,7500359,2745554,2687294,1730768,1685141,1679749,11574465,12604605,15231748,15591058,16713569,16927315,19553700,19669783,19788922,19789387,19839757,19889475,20053631,20072119,20074558,20452482,20690028,19913121,20628086,20673868 1624255,1624258,1624267,1624254,1624265 3339 AL445795,AL590103,AL590556,CH471134,U41286,AA507437,AB209851,AF479675,AI131329,AK126516,BC033152,BC109204,BG056875,CA407545,CD518822,CR621055,M64283,M85289,S76436,X62515,NM_005529,NG_016740 NP_005520,CAC18534,CAI12125,CAI12129,CAI12130,CAI12131,CAI12132,CAI12134,CAI12135,CAI12136,CAH71870,EAW94994,EAW94995,EAW94996,EAW94997,AAB95116,BAD93088,AAL79552,AAI09205,AAA52699,AAA52700,AAB21121,CAA44373,O43834,P98160,Q2VPA1,Q59EG0,Q5SZI5,Q8TEU3 Hs.562227 PLC|PRCAN|SJA|SJS|SJS1 HSPG|basement membrane-specific heparan sulfate proteoglycan core protein|endorepellin (domain V region)|heparan sulfate proteoglycan 2 (perlecan)|perlecan proteoglycan protein-coding 1323157 HSPH1 heat shock 105kDa/110kDa protein 1 1580863 20542028,16169070,14563843,9931472,19476517,18477890,18083346,17081983,16964243,16232202,16083285,15489334,15345747,15057823,14733918,14534695,12853125,12749852,12558502,12477932,10865058,10772927,9675148,9610721,9039502,1602151 10808 AL137142,NM_006644,CH471075,AB003333,AB003334,AF039695,AK293955,AK302294,AK302430,AK302832,AK303029,AK307597,AK311464,AK314576,BC018124,BC037553,BX648125,BX648623,CD251908,D86956 CAI12425,CAI12428,CAI12429,CAI12430,NP_006635,EAX08477,EAX08478,EAX08479,EAX08480,EAX08481,EAX08482,BAA34779,BAA34780,AAC18044,BAG57329,BAG63634,BAG63733,BAG64026,BAG64155,AAH37553,BAA13192,Q92598,ABM82653,ABM85830 Hs.36927 DKFZp686M05240|HSP105|HSP105A|HSP105B|KIAA0201|NY-CO-25 antigen NY-CO-25|heat shock 105kD alpha|heat shock 105kD beta|heat shock 105kDa protein 1|heat shock 110 kDa protein|heat shock protein 105 kDa protein-coding 1320556 HTATIP2 HIV-1 Tat interactive protein 2, 30kDa 9482853,15282309,10611237,9174052,11313954,19349353,19104151,19027726,19010857,18972434,18537194,18528861,18519672,17997990,17097132,16799960,16615932,15728189,15633220,15493507,15489334,15342556,15124103,15073177,14695192,12477932,10892349,10698937,10395547,9373149,8125298,19798571,20374651,18029348,19839715 10553 NM_001098521,NM_001098520,NM_001098522,NM_001098523,AC025972,CH471064,AF039103,AF092095,AI193677,AK130473,AK222969,NM_006410,AK223010,AK292092,AW963626,BC002439,BC015358,BF681178,BP382529,CR456821,DB450790,U69161 NP_006401,NP_001091991,NP_001091990,NP_001091992,NP_001091993,EAW68337,EAW68338,EAW68339,EAW68340,EAW68341,AAC39694,AAC78331,BAD96689,BAD96730,BAF84781,AAH02439,AAH15358,CAG33102,AAB84360,Q9BUP3,ABZ92511 Hs.90753 CC3|FLJ26963|SDR44U1|TIP30 30 kDa HIV-1 TAT-interacting protein|HIV-1 TAT-interactive protein 2|Tat-interacting protein (30kD)|oxidoreductase HTATIP2|short chain dehydrogenase/reductase family 44U, member 1 protein-coding 1344524 HTATSF1 HIV-1 Tat specific factor 1 Whereas most DNA sequence-specific transcription factors increase the rate of initiation and interact with enhancer or promoter DNA, human immunodeficiency virus-1 (HIV-1) Tat predominantly stimulates elongation and interacts with the trans-acting responsive (TAR) RNA element. Tat is essential for HIV replication.[supplied by OMIM] 1580863 15905670,15772651,15564463,15489334,15485897,15345747,15050687,12477932,11780068,11420046,10964778,10913173,10393184,9765201,9710584,9649438,9373149,8849451,8125298,16169070,10454543,17353931,18029348,19479034,17081983,16565220,16512786,19952111 27336 NM_014500,NM_001163280,CH471150,Z97632,AB209303,AK225870,AK299403,BC009896,BT006886,BU633070,U76992,NG_013235 NP_055315,NP_001156752,EAW88468,EAW88469,CAB10730,CAI42403,CAI42404,BAD92540,BAG61386,AAH09896,AAP35532,AAB18823,O43719,Q5H918,Q5H919,ABW03796 Hs.204475 TAT-SF1|dJ196E23.2 HIV TAT specific factor 1|HIV Tat-specific factor 1|cofactor required for Tat activation of HIV-1 transcription protein-coding 1345521 HTATSF1P HIV TAT specific factor 1 pseudogene 387039 1351970 HTC1 hypertrichosis 1 (universalis, congenital) 3341 1350965 HTC2 hypertrichosis 2 (generalised, congenital) 3342 1343388 HTL high L-leucine transport 6717430 3343 1345515 HTLVR human T-cell leukemia virus (I and II) receptor 9330634,3201246 3345 1353028 HTN1 histatin 1 1580863 8600179,3944083,2773933,2719677,2372245,9109822,10728974,16203048,3286634,8336540,19060311,18650243,17503797,15489334,12832472,12711380,12477932,12060866,11570863,20237496,2303595 3346 BC017835,NM_002159,L05512,AC063956,CH471057,L04131,L04132,CR627329,M26664 AAH17835,NP_002150,EAX05607,AAA02745,AAA58645,P15515 Hs.250959 HIS1 OTTHUMP00000219877|PPB|histatin-1|histidine-rich protein 1|post-PB protein protein-coding 1347774 HTN3 histatin 3 This gene encodes a member of the histatin family of small, histidine-rich salivary proteins. Histatins exhibit non-immunological, anti-microbial activity in the oral cavity. [provided by RefSeq] 1580863 20487276,12761219,12477932,12183519,11816973,11226423,11179305,10794615,10728974,8945538,7951254,3426601,2773933,2719677,2372245,2344289,2303595,16203048,3286634,8336540,19321452,18650243,18230684,17999963,17176059,15489334,15342556,15272024,14966203,19753800,20237496 3347 BC009791,BC095438,BP332860,CB957931,M18372,M26665,NM_000200,NG_012279,AC063956,CH471057,L05514,S74382 AAB32411,AAH09791,AAH95438,AAA51830,AAA58646,P15516,ABM83790,ABM87112,NP_000191,EAX05606,AAA02746 Hs.654442 HIS2|HTN2|HTN5 PB|basic histidine-rich protein|histatin 5|histatin-3|histidine-rich protein 3|hst protein-coding 1346030 HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator 3349 69020 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A 737702,1580863,737704 19800133,20451351,20734064,20521763,18577758,2834384,9736659,1330092,3138543,19455600,19439818,19381154,19339052,19330775,19326813,19309202,19278673,19224112,19170664,19162119,19156168,19124686,19105200,19095219,19086053,19077664,19060480,19052756,19032968,18982004,18971477,18962444,18937842,18855532,18849890,18848359,18841018,18832011,18826444,18796187,18761712,18727636,18715570,18707693,18706198,18675780,18663369,18644006,18639564,18606193,18593952,18583156,18573276,18562131,18561871,18484082,18394726,18387740,18387137,18334271,18308786,18286597,18270970,18268499,18181968,18163385,18079067,18047755,17906010,17888419,17724868,17661792,17655760,17570737,17543959,17540717,17507923,17504248,17493586,17466494,17438519,17426452,17420412,17417740,17408646,17401528,17217240,17208318,17203973,17203304,17192951,17123166,17092965,15498580,15489334,15469667,15458611,15447813,15211620,15148501,15111672,15052272,15048689,14998306,14984628,14744462,14736842,14666415,14573316,14507979,12969265,12759158,12650852,12559389,12522576,12477932,12181435,12062903,11992564,11989622,11854302,11814436,11163544,11140838,9754630,8626793,8393041,7755630,3041227,2591972,2052135,1766875,1685484,1559993,17012696,17009264,16856120,16770336,16756688,16722981,16677618,16633140,16626484,16538182,16504134,16467535,16464220,16458487,16316476,16302021,16154547,16081372,15952185,15940302,15864118,15758168,15728438,15716853,15683551,15539859,15521063,20935630,19900711,18240029,19086022,19352591,19353636,19423080,19533293,19560507,19590397,19617338,19636338,19639876,19723504,19725031,19730445,19736291,19747927,19780043,19781522,19829169,19874574,19894072,19897250,19903365,19936617,19962444,19997044,20010450,20022223,20025927,20026342,20043001,20075642,20124538,20170167,20171159,20351714,20388441,20403354,20435093,20453658,20454985,20468064,20470849,20515362,20533011,8218170,20577624,20594600,20609217,20633049,20638825,20817074 737702,737704 3350 AB041403,AC122707,AJ781317,CH471137,M28269,M83181,X13556,X57829,Z11168,AF498978,AK291429,NM_000524,BC069159,BC136263,S64045,AK314187 NP_000515,BAA94488,CAH03197,EAW51377,AAA36440,AAA66493,CAA31908,CAA40962,CAA77560,AAM21125,BAF84118,AAH69159,AAI36264,AAD13945,P08908,Q5ZGX3 Hs.247940 5-HT1A|5HT1a|ADRB2RL1|ADRBRL1 5-HT-1A|5-HT1a receptor|5-hydroxytryptamine receptor 1A|G protein coupled receptor|G-21|OTTHUMP00000221821|guanine nucleotide-binding regulatory protein-coupled receptor|serotonin receptor 1A protein-coding 731005 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B The neurotransmitter serotonin (5-hydroxytryptamine; 5-HT) exerts a wide variety of physiologic functions through a multiplicity of receptors and may be involved in human neuropsychiatric disorders such as anxiety, depression, or migraine. These receptors consist of 4 main groups, 5-HT-1, 5-HT-2, 5-HT-3, and 5-HT4, subdivided into several distinct subtypes on the basis of their pharmacologic characteristics, coupling to intracellular second messengers, and distribution within the nervous system (Zifa and Fillion, 1992 [PubMed 1359584]). The serotonergic receptors belong to the multigene family of receptors coupled to guanine nucleotide-binding proteins.[supplied by OMIM] 1626449,1626447,1626451,1626450,1626470,1626473,1626445,1626453,1580863,1358660,1358661 17353931,1315531,1559993,1351684,19352218,19350534,19325252,19156168,19086053,19058789,19038234,19032968,18937842,18855532,18821566,18676680,18430065,18349694,18283276,18270970,18253134,18035351,17948897,17563839,17525973,17510950,17503984,17501935,17501853,17427194,17417740,17325714,17241828,17093889,17011639,16958036,16856120,16847428,16770336,16443280,2834384,18577758,20538960,16400147,16344719,16310769,16197923,15944142,15717291,15700286,15698927,15670397,15489334,15365222,15318027,15211620,15109354,15108179,14744462,14730192,14714219,14593427,14574404,14504413,12898580,12877392,12627464,12556913,12497617,12496953,12477932,12192616,12022963,11956970,11854302,11827742,11751038,11690602,11578619,11496363,11378847,11140838,11104852,8700126,8218242,7802650,1610347,1565658,1359584,1348246,1328844,11247661,18240029,18583979,19170196,19455600,19506906,19519719,19625176,19626271,19639876,19673036,19692168,19721846,19756364,19829169,19874574,19897250,19936617,20010449,20071033,20388441,20398908,20435093,20468064,20545463,8882600,19913121,20565774,20628086,20638825 1626449,1626447,1626451,1626450,1626470,1626473,1626445,1626453,1358660,1358661 3351 NM_000863,AB041370,AL049595,AY225227,CH471051,D10995,L09732,M75128,M83180,AK290080,AK315325,BC069065,BC096206,BC096207,BC096208,M81590 NP_000854,BAA94455,CAB51537,AAO67712,EAW48722,BAA01763,AAA36030,AAA58675,AAA36029,BAF82769,BAG37726,AAH69065,AAH96206,AAH96207,AAH96208,AAA60316,P28222 Hs.123016 5-HT1B|5-HT1DB|HTR1D2|HTR1DB|S12 5-HT-1B|5-HT-1D-beta|5-hydroxytryptamine receptor 1B|serotonin 1D beta receptor|serotonin receptor 1B protein-coding 736440 HTR1D 5-hydroxytryptamine (serotonin) receptor 1D 1580863 18577758,2541503,1662665,1315531,20946355,21079607,1565658,1652050,19156168,19086053,19032968,18855532,18676680,18582865,18557979,17940576,17501853,17203304,17099886,17068621,16806108,16710414,16059583,15489334,15109354,12740597,12650952,12627464,12477932,11854302,11140838,10391209,18240029,19170196,19455600,19625176,19692168,19878438,20468064,20545463,9186750,20602615,20633049 3352 NM_000864,AL049576,CH471134,M89955,AF498979,BC007720,BT007027,M81589 NP_000855,CAB81617,EAW95037,AAA35491,AAM21126,AAH07720,AAP35673,AAA60315,P28221,ABM84801,ABW03623 Hs.121482 5-HT1D|HT1DA|HTR1DA|HTRL|RDC4 5-HT-1D|5-HT-1D-alpha|5-hydroxytryptamine receptor 1D|OTTHUMP00000003270|serotonin receptor 1D protein-coding 1350130 HTR1DP1 5-hydroxytryptamine (serotonin) receptor 1D pseudogene 1 8444354 3353 1350220 HTR1E 5-hydroxytryptamine (serotonin) receptor 1E 1580863 14574404,12627464,12477932,10391209,9316030,8001977,1513320,2834384,18577758,1733778,17353931,1608964,19156168,19086053,19058789,18937842,18821565,18079067,15489334,18240029,19455600 3354 NM_000865,AB041373,AL157777,CH471051,M92826,Z11166,AF498980,AL521170,BC069751,CR596923,CR618239,M91467 NP_000856,BAA94458,CAC10582,EAW48616,EAW48617,AAA58355,CAA77558,AAM21127,AAH69751,AAA58353,P28566 Hs.1611 5-HT1E 5-HT-1E|5-hydroxytryptamine receptor 1E|OTTHUMP00000016823|S31|serotonin receptor 1E protein-coding 734005 HTR1F 5-hydroxytryptamine (serotonin) receptor 1F 70767,1580863 11888546,9632173,8384716,1328180,18577758,8380639,19156168,19086053,16856120,16254601,15489334,15190056,12627464,12477932,11916537,18240029,19455600,2834384 70767 3355 AF498981,BC069125,BC096838,BX357988,CR606112,NM_000866,A74286,AB037533,AC119733,AC132004,CH471110,L04962,L05597 AAM21128,AAH69125,P30939,Q9P2Q4,NP_000857,CAB58517,BAA90453,EAW68865,AAA36646,AAA36605 Hs.248136 5-HT1F|5HT6|HTR1EL|MR77 5-HT-1F|5-hydroxytryptamine receptor 1F|serotonin receptor 1F protein-coding 734107 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 1580863,1624376,1624367,1624370,1624371,1624393,1624369,1624392,1624374,1624375,1600503,1331525,1624379 19913121,20565774,20580209,20589614,20594303,20602615,20623453,20628086,20673868,20677439,20807249,20817074,18577758,20451351,17617023,17614196,17601350,17590256,17564514,17544547,17525976,17521439,17510953,17506229,17504248,17503984,17487576,17481814,17440930,17420819,17407792,17406648,17401157,17339524,17291660,17280648,17240119,17225991,17221846,17221840,17203304,17622759,11121203,20385906,20734064,20736957,20827275,20862259,20888323,20930387,20937529,21035274,21041608,21049304,21055833,21089166,20538960,18783799,18775534,18771483,18771015,18762964,18761744,18712714,18707693,18657250,18618671,18611292,18609439,18602445,18579595,18573276,18562401,18552399,18516948,18513383,18511303,18502553,18480698,18460771,18454098,18436425,18430065,18420180,18405062,18389501,18379473,18370802,18368410,18366104,18364387,18359159,18349694,18336767,18334271,18314859,18297054,18288096,18270970,18253134,18247315,18241316,18215653,18198266,18197272,18196244,18191318,18182772,18181968,18163387,18086475,18079067,18063936,18006541,17964050,17956758,17944104,17938636,17924589,17922252,17899021,17804117,17728663,17715398,17713649,17697394,17688403,17655760,17625040,7582481,9109547,19647327,19647026,19639876,19590397,19584773,19560507,19556740,19545856,19506906,19494443,19493540,19457377,19455600,19445671,19439249,19435465,19428704,19420105,19387614,19381154,19365399,19361869,19352591,19352218,19339052,19328558,19328219,19221690,19213611,19193342,19192439,19184136,19170664,19162119,19156168,19142110,19111907,19111403,19102423,19095219,19086053,19077664,19077438,19060480,19058789,19037529,19032968,19026982,19000940,18982172,18982004,18977241,18958185,18937842,18937294,18855532,18849890,18832011,18826444,18821565,18802937,18801406,18797395,12454564,12231269,12202283,12167522,12140776,12109966,12105278,12079891,12063151,12057029,11992560,11989622,11983190,11956670,11920859,11920858,11918989,11916537,11891796,11842624,11814537,11803534,11803452,11771315,11732859,11725820,11702058,11702051,11566166,11526996,11526993,11525423,11490436,11489292,11444684,11431075,11421130,11409694,11378836,11317230,11317228,11317227,11311507,11300730,11172633,11150294,11140838,15000807,14988405,14967409,14744462,14744461,14741324,14730199,14699448,14698468,14681967,14668201,14623359,14610521,14566344,14566219,14531760,14514498,14508013,12957335,12927326,12898571,12886034,12877392,12875919,12874600,12830506,12815744,12759158,12714112,12711403,12707936,12695524,12685303,12682061,12650952,12624948,12607287,12606842,12606840,12605580,12585698,12579508,12532038,12522576,12477932,12476319,12475403,17185512,17102980,17098333,17093889,17092965,17056873,17003810,17000047,16967466,16958038,16899354,16876316,16874005,16856120,16806099,16778329,16770336,16767413,16762472,16762419,16741915,16710319,16701945,16699051,16642436,16640790,16633140,16580628,16545942,16537434,16491645,16464220,16449821,16443280,16434999,16397402,16382194,16362639,16328014,16314884,16302021,16281377,16272956,16258205,16231475,16215954,16187138,16179957,16127283,16087994,15999344,15965969,15950062,15915764,15893580,15891581,15857569,15826503,15722960,15722953,15722190,15717291,15659047,15581469,15564892,15562295,15550673,15533210,15489334,15483560,15476175,15469201,15383158,15364038,15341275,15313842,15309313,15285608,15274035,15245785,15241435,15232358,15211639,15211529,15190056,15167698,15140279,15083167,15057823,15052272,15048655,15048642,15037867,15005715,11121202,11121191,11121184,10581480,10391209,9635956,9169451,9153397,9130948,8655141,8622505,8035173,2300586,2032718,1980030,1722404,1330647,1323014,20338635,15831837,15862800,16344560,16517693,18240029,18583979,18703043,19057895,19321655,19353636,19389456,19474802,19559762,19566713,19636338,19672240,19693267,19712556,19727210,19742166,19758204,19758789,19763327,19764480,19820407,19829168,19842167,19844076,19855357,19863848,19874574,19897250,19910872,19913072,19924111,19936617,19937159,19956635,19959344,19997080,20006992,20010450,20022223,20025927,20039947,20043006,20047709,20071033,20075642,20125193,20177409,20179740,20198576,20203198,20211215,20218802,20351714,20379614,20396435,20403506,20407490,20421848,20431430,20436453,20452482,20452754,20453658,20464528,20468064,20471101,20478362,20515362,20521326,20545463,19690620,16754659,20628446,20660194 1624376,1624367,1624370,1624371,1624393,1624369,1624392,1624374,1624375,1600503,1331525,1624379 3356 M86841,S71229,X57830,A23337,NM_000621,AB037513,AL136958,AL160397,CH471075,S42168,S50130,AA418604,AF498982,AK302787,AK314132,BC069356,BC069576,BC074848,BC074849,BC096839,BX647777,DA233936,DC321645,NG_013011,NM_001165947 AAA58354,AAB31320,CAA40963,P28223,Q9P2Q9,CAA01675,NP_000612,BAA90433,CAI12227,CAI16877,EAX08770,AAB22791,AAB24166,AAM21129,BAG63991,BAG36822,AAH69356,AAH69576,AAH74848,AAH74849,AAH96839,NP_001159419 Hs.654586 5-HT2A|HTR2 5-HT-2|5-HT-2A|5-HT2 receptor|5-hydroxytryptamine receptor 2A|serotonin 5-HT-2A receptor|serotonin receptor 2A 1643282,1643520,2289411 BW199_H,BW259_H,BW193_H protein-coding 731795 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B Multiple receptor subtypes of serotonin neurotransmitters with multiple physiologic functions have been recognized. The 5-HT-2 receptors mediate many of the central and peripheral physiologic functions of serotonin. Cardiovascular effects include contraction of blood vessels and shape changes in platelets; central nervous system effects include neuronal sensitization to tactile stimuli and mediation of hallucinogenic effects of phenylisopropylamine hallucinogens.[supplied by OMIM] 1580863 20564397,7926008,8143856,12761501,19156168,19095219,19086053,19023134,18079067,15815621,15608559,15489334,12767050,12477932,11916537,11877320,11859080,11150294,10734074,10722792,8786115,8621713,8078486,7582481,12970106,15625277,15862800,15925089,16517693,18240029,18703043,19057895,19308295,19455600,19874574,20346360,7599919,8882600,9186750,16754659,19913121,20628086 3357 AAB31827 NM_000867,AC009407,AF156160,CH471063,AK313741,AY136751,BC063123,X77307,Z36748 NP_000858,AAX93128,AAD39259,EAW70949,BAG36482,AAN01277,AAH63123,CAA54513,CAA85319,AAB31827,P41595 Hs.421649 5-HT(2B)|5-HT2B 5-HT 2B receptor|5-HT-2B|5-hydroxytryptamine 2B receptor|5-hydroxytryptamine receptor 2B|serotonin receptor 2B protein-coding 736842 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. [provided by RefSeq] 2292548,1358737,1624991,1624982,1624993,1625000,1358736,1624996,1624998,1580863 16741915,16682118,16633140,16464220,16433010,16382194,16258205,16195233,16157158,16021472,15953671,15935077,15927089,15864111,15772651,15717291,15695058,15666332,15635667,15581469,15562295,15551195,15518545,15489334,15381968,15318026,15313842,15309390,15304380,15241435,15167695,15147464,15109354,15102340,15052272,15048662,14722258,14699441,14602721,14574222,12877392,12858032,12767050,12759158,12707936,12682077,12668355,12650852,12627464,12518270,12477932,12454564,12425817,12192608,12145300,12111480,12086765,12007749,12006486,11988167,11916537,11888546,11526472,11525423,11502363,11343611,11300730,11205431,11150294,11140838,11140333,10816555,10581480,10391209,10206230,9928237,9537516,9153397,8812491,7895773,7557992,1722404,1302605,20345755,20538960,20734064,16770336,18336767,18303585,18270970,18211617,18205001,18192901,18086475,18083778,18079067,17964050,17901921,17848916,17767148,17728663,17702092,17697626,17632216,17625040,17558446,17291373,17275977,17192951,17102980,17098333,17055531,17039480,17016522,16959425,16914526,16857671,16319069,7582481,7700379,9241279,18029348,19496825,19474754,19455600,19445671,19439249,19416518,19339052,19193342,19156168,19142110,19142101,19086053,19077438,19058789,19038234,19032968,19005330,18855532,18768750,18718676,18715570,18593952,18562401,18515891,18504633,18499489,18460774,18389501,12970106,15831837,18240029,18703043,18802918,19057895,19106782,19411841,19434072,19614978,19636338,19653017,19690620,19829168,19874574,19956635,19997080,20010449,20010450,20015120,20022223,20045196,20060656,20065966,20071033,20075642,20092861,20195292,20351714,20407490,20415561,20435093,20452754,20453482,20468064,20494452,20504252,20520301,20545463,16754659,19913121,20394819,20562674,20628086,20680028 2292548,1358737,1624991,1624982,1624993,1625000,1358736,1624996,1624998 3358 NG_012082,AC004822,AC007022,AC007025,AL355812,AL590097,AL591402,CH471120,X80763,AF208053,AF498983,AK295753,AK308766,BC028688,BC095543,BX648587,M81778,U49516,NM_000868 NP_000859,AAC71658,CAI41334,CAI41335,CAH70192,CAH70193,EAX02623,EAX02624,CAB59978,AAF35842,AAM21130,BAG58583,AAH95543,AAA60317,AAB40898,P28335 Hs.149037 5-HT2C|5-HTR2C|HTR1C 5-HT-1C|5-HT-2C|5-HT1C|5-hydroxytryptamine receptor 1C|5-hydroxytryptamine receptor 2C|OTTHUMP00000023868|serotonin 5-HT-2C receptor|serotonin receptor 2C 1643316 BW239_H protein-coding 731037 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 20516728,7565620,19457066,19455600,19185213,19184136,19156168,19095219,19086053,19081678,19032968,19008750,18982004,18681779,18622264,18614545,18593952,18359159,18331431,18330705,18292429,18197086,18184810,18063656,17697394,17509016,17496724,17401153,17260949,17259209,17200121,17192651,17052218,17010535,16931691,16874005,16825485,16595668,16534507,16487942,16407231,16314763,16000636,15887114,15809299,15489334,15452106,15293096,15131114,15115912,20538960,20838391,18079067,15102340,14626451,14557147,12867984,12791692,12750374,12661769,12549905,12477932,12457738,12363396,12359150,12059035,11505217,11495540,11207027,10670426,9950429,9928262,8848005,8530095,8112471,15028279,19713259,19741568,19874574,19904001,19933756,20021265,20075642,20168265,20356718,20468064,19794330,19913121,20522555,20602613,20602615,20628086,20694966,20728877 3359 NM_213621,NM_000869,NM_001161772,AJ005205,AP000908,CH471065,U73443,AF498984,AJ003078,AJ003079,AJ003080,AK299973,AK304630,AK313896,BC002354,BC004453,BT007204,CD014118,CR626153,D49394,S82612,NG_013058 NP_998786,NP_000860,NP_001155244,CAA06442,EAW67237,EAW67238,EAW67239,EAW67240,AAB71736,AAM21131,CAA05851,CAA05852,CAA05853,CAA05854,BAG61798,BAG65410,BAG36619,AAH02354,AAH04453,AAP35868,BAA08387,AAB37533,P46098,Q7KZM7,Q9UE69,Q9UEP2,AAP36958,ABM82929,ABM86119 Hs.413899 5-HT-3|5-HT3A|5-HT3R|5HT3R|HTR3 5-HT3-A|5-hydroxytryptamine receptor 3|5-hydroxytryptamine receptor 3A|5HT3 serotonin receptor|OTTHUMP00000218318|OTTHUMP00000218319|OTTHUMP00000218320|serotonin receptor 3A|serotonin-gated ion channel receptor protein-coding 730958 HTR3B 5-hydroxytryptamine (serotonin) receptor 3B The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. [provided by RefSeq] 1580863 19713259,19741568,19874574,20021265,20075642,20168265,20351714,20356718,9950429,19328558,19185213,19156168,19086053,19058789,19008750,18982004,18937842,18807291,18698232,18518925,18389280,18300944,18187416,18184810,18079067,17697394,17010535,16874005,16534507,16487942,16314763,15887114,15389765,15293096,15115912,14557147,12867984,12775740,12750374,12363396,12359150,10521471,19794330,19913121,20602613,20602615,20628086,20538960,20838391 9177 EF444985,NM_006028,NG_011483,AP001874,CH471065,AF080582,AF169255,AK314268,AM293589 ACA06001,NP_006019,EAW67236,AAD12242,AAF03691,BAG36930,CAL25321,O95264,AAI41516 Hs.241377 5-HT3B 5-HT3-B|5-hydroxytryptamine 3 receptor B subunit|5-hydroxytryptamine receptor 3B|serotonin receptor 3B|serotonin-gated ion channel subunit protein-coding 1353896 HTR3C 5-hydroxytryptamine (serotonin) receptor 3, family member C The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq] 1580863 18681779,18389280,15157181,14597179,12801637,19794330,12477932,19035560,20021265,20356718,20538960 170572 NM_130770,NG_012749,AC131235,CH471052,AF459285,BC131799 NP_570126,EAW78305,AAL66182,AAI31800,Q8WXA8 Hs.632579 5-HT3-C|5-HT3C|5-hydroxytryptamine receptor 3 subunit C|5-hydroxytryptamine receptor 3C|serotonin receptor 3C protein-coding 1344328 HTR3D 5-hydroxytryptamine (serotonin) receptor 3 family member D The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 14597179,12801637,12477932,20021265,20356718,20538960,19794330,19913121,20602613,20628086 200909 NM_182537,NM_001145143,NM_001163646,NG_012750,AC068644,AC131235,AJ437318,AY159812,BC101090,BC101091,BK001746 NP_872343,NP_001138615,NP_001157118,CAD24817,AAO38166,AAI01091,AAI01092,Q70Z44 Hs.448004 5HT3D|MGC119636|MGC119637 5-HT3-D|5-HT3D|5-hydroxytryptamine receptor 3 subunit D|5-hydroxytryptamine receptor 3D|OTTHUMP00000210833|serotonin 5-HT-3D receptor|serotonin receptor 3D protein-coding 1347568 HTR3E 5-hydroxytryptamine (serotonin) receptor 3, family member E The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes a subunit E of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq] 20538960,12477932,18614545,18573276,15157181,14597179,12801637,19794330,20602613,20522555,20021265,20356718 285242 NM_182589,NG_012452,AC131235,CH471052,AY159813,AY349352,AY349353,BC101182,BC101183,BC101184,BC101185,DQ644022,EU165354 NP_872395,EAW78304,AAO38167,AAQ93476,AAQ93477,AAI01183,AAI01184,AAI01186,ABG35128,ABW05298,A5X5Y0 Hs.449179 5-HT3c1|MGC120035|MGC120036|MGC120037 5-HT3 receptor subunit E splice variant HTR3Ea|5-HT3-E|5-HT3E|5-hydroxytryptamine receptor 3 subunit E|5-hydroxytryptamine receptor 3E|serotonin receptor 3E protein-coding 736061 HTR4 5-hydroxytryptamine (serotonin) receptor 4 This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described, but the full-length nature of some transcript variants has not been determined. [provided by RefSeq] 16102731,9603189,9276448,19455600,19352218,19328558,19156168,19086053,19081678,19053287,19002436,18846035,18359159,18322379,18270970,18079067,17603679,17572776,17509016,17418812,17379184,17377064,16563621,16322401,16209130,15950987,15925089,15919661,18577758,12399948,11989623,11750916,11716477,11406291,11218067,10683202,10646498,10220570,9724925,9371406,9351641,9349523,7656980,15896782,15825078,15710402,15575821,15489334,15118808,12898568,12855812,12519861,12477932,12446729,18240029,19892407,20010834,20010835,12036966 3360 NM_199453,NM_000870,NM_001040173,NM_001040172,AC008627,AC011390,AC091971,AC114939,AJ243213,CH471062,AJ011371,AJ131724,AJ131725,AJ131726,AJ278979,AJ278980,NM_001040169,AJ278981,AJ278982,AJ519673,AJ633645,AK308471,AM712912,BC074755,BC095497,DR000612,Y08756,Y09586,Y10437,Y12505,Y12506,Y12507,Y13584,Z48150 NP_001035259,NP_955525,NP_000861,NP_001035263,NP_001035262,CAB71316,EAW61799,EAW61800,EAW61801,EAW61802,EAW61803,EAW61804,CAA09600,CAC20411,CAC79533,CAC79538,CAC22248,CAC22249,CAC22250,CAC22251,CAD58392,CAG17627,CAN84676,AAH74755,AAH95497,CAA70002,CAA70774,CAA71462,CAA73107,CAA73108,CAA73109,CAA73911,CAA88167,Q13639,Q546Q1,Q684M0,Q712M9,Q8IXH9 Hs.483773 5-HT4|5-HT4R 5-HT-4|5-hydroxytryptamine receptor 4|5-hydroxytryptamine4 receptor|cardiac 5-HT4 receptor protein-coding 735325 HTR5A 5-hydroxytryptamine (serotonin) receptor 5A The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq] 1580863 19086053,18802937,18253134,18079067,17881091,17203304,16701945,16516972,15921820,15581469,15489334,14702039,12930153,12853948,12690205,12627464,12558985,12477932,11916537,11343685,11317225,11287788,10779389,9847074,8978771,19156168,20734064,2834384,7988681,19455600,19381154,19328558,18240029,20388841,20468064,18577758 3361 NM_024012,AC092628,AC093726,CH236962,CH471149,X81411,X81412,AF498985,AK094255,BC112021,BC113468,BX538209 ADR82961,NP_076917,AAS07542,AAP21864,EAL23726,EAX04526,CAA57168,AAM21132,BAG52850,AAI12022,AAI13469,P47898,Q14D80,Q75LH0,Q86UN1 Hs.65791 5-HT5A|MGC138226 5-HT-5|5-HT-5A|5-hydroxytryptamine receptor 5A|serotonin receptor 5A protein-coding 69153 HTR5B 5-hydroxytryptamine (serotonin) receptor 5B 11343685 645694 NG_008325,AB065453,AC009404,AJ308679,AJ308680 5-HT5B|GPR134 pseudo 733226 HTR6 5-hydroxytryptamine (serotonin) receptor 6 729295,1580863,1358662 8522988,17189269,19455600,19193342,19156168,19095219,19086053,18855532,18253134,18197272,18079067,16770336,16701945,16682118,16640790,16633140,16094384,15896229,15823158,15737640,15531082,15489334,15482912,15048641,14741325,14698468,12650852,12627464,12618306,12579508,12477932,12057822,12023056,11916537,11889255,11888546,11725820,11524147,11287786,11163544,11140838,7656980,18240029,18583979,19590397,19636338,19782122,19936617,19997080,20093369,20170099,20394784,20464528,20468064,12036966,18577758,20602615,20705401,20737521 729295,1358662 3362 NM_000871,AL031727,CH471134,AB209129,AY429105,BC074995,BC074996,L41147,Z49119 NP_000862,CAI19020,EAW94896,BAD92366,AAR07900,AAH74995,AAH74996,AAA92622,CAA88929,P50406,Q59GI0 Hs.22180 5-HT6|5-HT6R 5-HT-6|5-hydroxytryptamine receptor 6|serotonin receptor 6 protein-coding 1346949 HTR7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq] 1580863 8226867,8398139,19455600,21046636,19439818,19233240,19156168,19086053,18855532,18243350,18079067,17936759,17428232,17406648,17321075,16935469,16870886,16192982,15896881,15581469,15489334,15086532,14741325,12767050,12477932,12446729,11916537,11906971,11888546,11163544,10490701,9298538,9154233,9084407,7656980,7601444,16385451,18240029,20468064,12036966,18577758,20602615 3363 NM_000872,NM_019859,AL360011,CH471066,U68492,AB451482,AK292606,AY493988,NM_019860,BC047526,BG108256,L21195,U68487,U68488 NP_062874,NP_000863,NP_062873,CAH69965,CAH69966,CAH69967,CAH69968,EAW50118,EAW50119,EAW50120,AAB48397,AAF07217,AAF07218,BAG70296,BAF85295,AAR87480,AAH47526,AAC37538,AAB48393,AAB48394,P34969,Q5VX03,Q5VX04 Hs.73739 5-HT7 5-HT-7|5-HT-X|5-hydroxytryptamine receptor 7|serotonin 5-HT-7 receptor|serotonin receptor 7 protein-coding 1604760 HTR7P 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 9473718 93164 NR_002774,AC007688,AK125093,U86813 Hs.593282,Hs.722632 HTR7P pseudo 732659 HTRA1 HtrA serine peptidase 1 This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq] 1580863 15101818,16385451,19117936,19470753,19636338,19657146,19680273,19688690,19783326,19796758,19798546,19845562,19933195,19948975,20132989,20140183,20157352,20238042,20346514,20378180,20379614,20381870,20388781,20445115,20456446,20533271,20538655,21115960,20469960,20688737,20881291,20888482,21031019,21060055,21067572,9852107,19491722,19424634,19387015,19375943,19301262,19259132,19255159,19202148,19187590,19169232,19065273,19056122,19026638,19001225,18939352,18806297,18718667,18682812,18682806,18681782,18515590,18511946,18452160,18436811,18427598,18362109,18316707,18301036,18241672,18207215,18206206,18164066,18162041,18161619,18156628,18079691,17962403,17904186,17884985,17718385,17692272,17679948,17568988,17438519,17426452,17292962,17094466,17072861,17053109,17053108,16767218,16650464,16377621,16344560,15917099,15855271,15231748,14973287,14716297,14702039,14500695,12513693,12477932,12242667,9344681,9110174,8977104,8619474,19913121,20576771,20606025,20628086,20664794,20678803,20385819,20385826,20861866 5654 NM_002775,NG_011554,AF157623,BX842242,CH471066,AF070555,AF097709,AI423369,AK091944,AK092476,AK290089,BC011352,BC031082,BM993893,CR590731,CR593682,CR596858,CR597732,CR603877,CR605013,CR611805,CR613636,CR623030,CR624458,CR624921,D87258,DA633502,Y07921 NP_002766,AAD41525,EAW49312,EAW49313,AAC97211,BAG52446,BAG52557,BAF82778,AAH11352,BAA13322,CAA69226,Q05DJ8,Q92743,AAI56553,AAI72536 Hs.501280 ARMD7|HtrA|L56|ORF480|PRSS11 IGFBP5-protease|OTTHUMP00000020664|protease, serine, 11|protease, serine, 11 (IGF binding)|serine protease HTRA1 protein-coding 1318943 HTRA2 HtrA serine peptidase 2 This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. [provided by RefSeq] 2314385,1580863 10873535,10644717,10971580,10995577,15044455,19424634,19224617,19076428,18979398,18800009,18790661,18769594,18662332,18606591,18401856,18364387,18362145,18259191,18241672,18060880,17922292,17718385,17684015,17311912,17266347,17130845,16968707,16713569,16413409,15961413,15815621,15489334,15328349,15294909,15236609,15201285,15200957,15036614,14645012,14605674,12835328,12815069,12477932,11967569,11803371,11801603,11606597,11604410,20651226,20125124,11583623,9373149,8125298,12865429,15300255,20202124,17297443,19355862,19502560,19570340,19656851,19680265,19763263,20012177,20036034,20122399,20562859,11602612,20469960,20877624 2314385 27429 NM_145074,NG_012163,AC005041,CH471053,AF020760,AF141305,AF141306,AF141307,AF184911,AK225932,AK291977,AK310163,BC000096,NM_013247,BF939362,CR593199,CR606695,CR611201,CR611713,CR624436 NP_037379,NP_659540,EAW99617,EAW99618,EAW99619,EAW99620,EAW99621,AAB94569,AAF66596,AAF66597,AAF66598,AAG13126,BAF84666,AAH00096,O43464,ABM82748,ABM85935,ABW03759 Hs.469045 OMI|PARK13|PRSS25 HtrA-like serine protease|OTTHUMP00000202723|Omi stress-regulated endoprotease|high temperature requirement protein A2|protease, serine, 25|serine protease 25|serine protease HTRA2, mitochondrial|serine proteinase OMI protein-coding 1354015 HTRA3 HtrA serine peptidase 3 1580863 20469960,19424634,18241672,17962403,16650464,16251496,15489334,14500695,12513693,12477932,19359045,19951697,20068077,20154083,20379614 94031 NM_053044,AC113611,CH471131,AY040094,AY280665,AY280666,BC034390,BC035717,CR604057,AL547377 NP_444272,EAW82345,EAW82346,AAK71475,AAP42282,AAP42283,AAH34390,AAH35717,P83110,ABM82114,ABM85297 Hs.479119 Prsp|Tasp high-temperature requirement factor A3|pregnancy-related serine protease|probable serine protease HTRA3|serine protease HTRA3 protein-coding 1350689 HTRA4 HtrA serine peptidase 4 This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq] 16303743,15489334,14702039,12477932,12408815 203100 NM_153692,AC108863,CH471080,CQ783299,AK075205,AK300197,AY188774,BC057765,CR590249,CR601506,DC423042 NP_710159,EAW63290,CAF86511,BAC11470,BAG61969,AAH57765,P83105 Hs.661014 FLJ90724 probable serine protease HTRA4 protein-coding 68472 HTT huntingtin Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq] 1358375,1304431,1302537,1580863,1302572,1300048 20097678,20204693,20710011,12379151,12881722,16169070,18166084,19451134,19488402,19566678,19628478,19661690,19710014,19726651,19748341,19752198,19776381,19915590,19916101,19933700,19969308,20016493,20016831,20018729,20026071,20056037,20064390,20145253,20154145,20232225,20360314,20379614,9466992,20126661,20800603,18029348,20864123,14617779,14572927,14570907,14570710,14527999,12956863,12952868,12873381,12824708,12810713,12807877,12799135,12784292,12783847,12682342,12657678,12604778,12569151,12555240,12548366,12477932,12466534,12427879,12393793,12393306,12354780,12354289,12204002,12191472,12135980,12062094,11988536,11973620,11971872,11939977,11906693,11870213,11854752,11839795,11807410,11792860,11788820,11745989,11739372,11738012,11642542,11595021,11487199,11461154,11442349,11432963,11379408,11264541,11172033,11149616,11137014,19498170,19492089,19386911,19361448,19289118,19270701,19270310,19268537,19266143,19250382,19249009,19240033,19204007,19196932,19133136,19130884,19115052,19059613,19039036,19027857,19026253,19018245,18992820,18981372,18922795,18831068,18772195,18718937,18651325,18649400,18640989,18632688,18609118,18586675,18558632,18504298,18445618,18400894,18380890,18337408,18267960,18255062,18157708,18091069,18078716,18068007,18065495,18063376,18029446,18006506,17989880,17975550,17952586,17948889,17947297,17941857,17902043,17708681,17687393,17660463,17611284,17610899,17548833,17519223,17500595,17433700,17409200,17403029,17361007,17299753,17276991,17240517,17208201,17201528,17189290,17161366,17151278,17141218,17135277,17126554,17124493,17115386,17098699,17012230,16973623,16968735,16835690,16782707,16777606,16729030,16606912,16595690,16522639,16473015,16452635,16417581,16391387,16365166,16324236,16286508,16278683,16204350,16192271,16183657,16162412,16115812,16115810,16085648,16006135,15994095,15951191,15916486,15911879,15890517,15843398,15832309,15815621,15809304,11121205,11105061,11092755,11063258,11035034,11013077,11008591,10974549,10958656,10801775,10770929,10441327,10434301,10410676,10332029,9809064,9700202,9668110,9599014,9535906,9454836,9147654,9079622,8702625,8696339,8612237,8458085,8197474,7951324,7903579,7759106,7647777,1302016,12456676,12881483,15383276,15996546,15936278,15603740,11468270,14713958,11319238,15064418,15225551,20444706,20494921,20858895,20864533,7568002,7477378,10823891,9778247,7774020,10353249,15837803,19667213,19525941,15716522,15689617,15654337,15610167,15496672,15468075,15359012,15351733,15340079,15338298,15316797,15312898,15273431,15261377,15240759,15163634,15140196,15140195,15032971,14985437,14978262,14743370,14714490,15717026,14657499,20531388,16456924,17704510,18669659,7748555,20140226 1358375,1304431,1302537,1302572 3064 NM_002111,NG_009378,AL390059,CH471131,L27416,L34020,Y07983,Z49154,Z49155,Z49769,Z69837,AB016794,AB209506,AK025918,AK290544,BC014028,L12392,L20431 NP_002102,EAW82474,EAW82475,EAW82476,EAW82477,EAW82478,CAA89024,CAA89025,CAA89839,BAA36753,BAD92743,BAF83233,AAB38240,AAA52702,P42858,Q59FF4,AAI72756 Hs.518450 HD|IT15 huntingtin|huntington disease gene homolog|huntington disease protein protein-coding 1346871 HTX2 heterotaxy 2 (autosomal dominant) 7747776 3348 2293810 HULC highly up-regulated in liver cancer (non-protein coding) 17241883 728655 NR_004855,AL133261,AL161437,AY914050 Hs.214343 NCRNA00078 miscrna 1344314 HUNK hormonally up-regulated Neu-associated kinase 1580863 10662544,17203973,15575376,11129044,10830953,21107309,19717424,19890347,20133759,20379614 30811 NM_014586,AP000256,AP000257,AP000258,AP000259,AP000260,CH471079,AF086072,AJ271722 NP_055401,EAX09883,CAB71146,P57058,AAI56533,AAI72525 Hs.109437 B19|hormonally up-regulated neu tumor-associated kinase|hormonally upregulated Neu-associated kinase|hormonally upregulated neu tumor-associated kinase|serine/threonine protein kinase MAK-V|serine/threonine-protein kinase MAK-V protein-coding 1318030 HUS1 HUS1 checkpoint homolog (S. pombe) The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. [provided by RefSeq] 1580863 15489334,20188637,10359610,10846170,10884395,9878245,9872989,19193627,18950845,18794804,18676680,18156970,17855402,17583730,17493829,17395641,16814252,16731526,16216273,15897895,15871698,15556996,15314187,15122316,14611806,14500360,12791985,12690205,12578958,12477932,12228248,11944979,11920544,11907025,11573955,11077446,10852904,10777662,9828130,9524127,11994305,17353931,19170196,19523882,19535328,19615952,19625176,19692168,20453000,20545769,18029348 3364 NM_004507,AC069282,AF503165,CH236958,CH471128,AF076844,AF110393,AJ227901,AK290459,AK294117,BC007013,BG286955,BT019481,BT019482,CR536552,CR619988,Y16893 NP_004498,AAM18968,EAL23807,EAW61001,EAW61002,AAC95526,AAD25350,BAF83148,BAG57450,AAH07013,AAV38288,AAV38289,CAG38789,CAA76518,O60921 Hs.152983 OTTHUMP00000208365|OTTHUMP00000208366|OTTHUMP00000208378|checkpoint protein HUS1|hHUS1|hus1+-like protein protein-coding 1346290 HUS1B HUS1 checkpoint homolog b (S. pombe) The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq] 15489334,14611806,14574404,14500360,12477932,11944979,20453000 135458 NM_148959,AL357054,CH471087,AF508547,AI446694,BC101697,BC101699 NP_683762,CAI15190,EAW55063,AAM28904,AAI01698,AAI01700,Q8NHY5 Hs.669039 MGC126746|MGC126748|RP11-532F6.1 checkpoint protein HUS1B|hHUS1B protein-coding 1343412 HUWE1 HECT, UBA and WWE domain containing 1 15989956,15989957,15767685,18029348,19148187,19047128,18923429,18488021,18252223,17567951,17081983,16964243,16269333,16213503,15772651,15567145,15489334,15302935,14702039,12477932,11042152,10998601,10997877,9373149,9205841,8125298,7968380,7478539,20534529,15231748,17478428,18598940,19596235,19615732,19713937,19851984,20007713,7943042 10075 NM_031407,AL592046,CH471154,CS228272,Z94044,Z97054,AB002310,AB071605,AF057569,AF161390,AK056671,AK091352,AK223167,AK294575,AL162050,AY772009,AY929612,BC002602,BC018750,BC038184,BC063505,BC072421,BC107576,CR456813,CR620443,DQ097177,NG_016261 NP_113584,CAI39578,CAI39579,EAW93160,EAW93161,EAW93162,EAW93163,EAW93164,EAW93165,EAW93166,CAJ47378,CAI42351,CAI42352,CAI42353,CAI42354,CAI42644,CAI42654,CAI42656,BAA20771,BAC06833,AAC62492,AAF28950,BAD96887,BAG57767,CAB82393,AAV90838,AAX24125,AAH02602,AAH18750,AAH38184,AAH63505,AAI07577,CAG33094,AAY98258,Q3B7K0,Q53FW4,Q5H924,Q5H935,Q5H962,Q5H963,Q7Z6Z7,Q8IWJ0,Q9NXW1,CAI39580,CAI39581 Hs.136905 ARF-BP1|HECTH9|HSPC272|Ib772|KIAA0312|LASU1|MULE|UREB1 ARF binding protein 1|ARF-binding protein 1|BJ-HCC-24 tumor antigen|E3 ubiquitin-protein ligase HUWE1|HECT domain protein LASU1|HECT, UBA and WWE domain-containing protein 1|Mcl-1 ubiquitin ligase E3|OTTHUMP00000023356|OTTHUMP00000023357|URE-B1|URE-binding protein 1|homologous to E6AP carboxyl terminus homologous protein 9|large structure of UREB1|upstream regulatory element-binding protein 1 protein-coding 1351495 HV1S herpes simplex virus type 1 sensitivity 1034214 3365 1353766 HVBS4 hepatitis B virus integration site 4 3016335 3367 1345845 HVBS6 hepatitis B virus integration site 6 2847975 3368 1349150 HVBS7 hepatitis B virus integration site 7 3369 1352470 HVBS8 hepatitis B virus integration site 8 2845134 3370 AC005375 protein-coding 1603943 HVCN1 hydrogen voltage-gated channel 1 HVCN1 is a voltage-gated proton channel highly expressed in immune tissues. Channels like HVCN1 mediate the proton conductances required by phagocytic leukocytes for the oxidative burst that underlies microbial killing (Ramsey et al., 2006 [PubMed 16554753]).[supplied by OMIM] 20543828,16554753,16556803,19255483,19233200,18509058,18356202,17948262,16344560,15342556,12975309,12477932,20018719,20037153,20144758,20147290,20961760 84329 NM_001040107,NM_032369,AC144522,CH471054,AK293543,AY359054,BC007277,BC009731,BC032672,BP369986,BP375483,CR596429,DB310328,GU211002 NP_001035196,NP_115745,EAW97933,EAW97934,EAW97935,EAW97936,EAW97937,BAG57024,AAQ89413,AAH07277,AAH09731,AAH32672,Q96D96,ADA61023 Hs.211511,Hs.334637 HV1|MGC15619|VSOP voltage sensor domain-only protein|voltage-gated hydrogen channel 1 protein-coding 1352194 HYAL1 hyaluronoglucosaminidase 1 This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599811,1580863 9223416,18029348,19435493,19201751,19140316,18718911,18677769,18281563,18083358,17503783,17502371,17415544,17227790,17145867,16831275,16713680,16641997,15489334,14702039,12845686,12684632,12477932,12084718,11929860,10702795,10339581,9503017,9409739,8793927,8603390,19345473,19478093,19567141,20072653,20558613,20572808,20634891 1599811 3373 NM_153281,NM_153282,NM_033159,NM_153283,NM_153285,NM_007312,NG_009295,AC002455,CH471055,U73167,U90094,AF118821,AF173154,AF502904,AF502905,AF502906,AF502907,AF502908,AK097287,AK290816,BC025774,BC035695,CR541933,CR592113,CR602123,U03056,U96078 NP_695013,NP_695014,NP_149349,NP_695015,NP_695017,NP_009296,AAB67046,EAW65083,EAW65084,EAW65085,EAW65086,EAW65087,EAW65088,EAW65089,EAW65090,EAW65091,AAC02730,AAD24460,AAD53277,AAM60770,AAM60771,AAM60772,AAM60773,AAM60774,BAG53447,BAF83505,AAH25774,AAH35695,CAG46731,AAD09137,AAD04190,Q12794,ABM85009,ABW03328 Hs.75619 HYAL-1|LUCA1|MGC45987|NAT6 OTTHUMP00000211076|hyaluronidase 1|hyaluronidase-1|hyaluronoglucosaminidase-1|luCa-1|lung carcinoma protein 1|plasma hyaluronidase|tumor suppressor LUCA-1 protein-coding 733698 HYAL2 hyaluronoglucosaminidase 2 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. Varying functions have been described for this protein. It has been described as a lysosomal hyaluronidase which is active at a pH below 4 and specifically hydrolyzes high molecular weight hyaluronan. It has also been described as a GPI-anchored cell surface protein which does not display hyaluronidase activity but does serve as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR. [provided by RefSeq] 1580863 9712871,19443707,19435493,19140316,19081476,17229709,16837837,16641997,16344560,15923194,15596803,15489334,14702039,12684632,12676986,12584308,12477932,12174938,11731268,11296287,11085536,10989127,9933825,9790770,9373149,9110174,8619474,8603390,8125298,20554532,16990026,20072653,20864512 8692 NM_033158,AC002455,CH471055,AF070608,AJ000099,AJ844619,AK092449,AK127945,AK225635,AK310963,BC000692,BU626745,CR592783,CR595904,CR596831,CR597406,CR597868,CR601925,CR602763,CR606405,CR609590,CR609703,CR612024,CR616710,CR619200,CR623761,DB033601,DC384113,U09577,NM_003773,AJ844620,DC358776 NP_003764,NP_149348,AAB67045,EAW65092,EAW65093,EAW65094,AAC28656,CAA03924,CAH59903,BAG52554,BAG54602,AAH00692,AAC62823,Q12891,Q5ZF00,ABM84764,ABW03621,CAH59742 Hs.76873 LUCA2|LuCa-2 OTTHUMP00000210888|OTTHUMP00000210889|PH-20 homolog|PH20 homolog|hyal-2|hyaluronidase 2|hyaluronidase-2|hyaluronoglucosaminidase-2|lung carcinoma protein 2|lysosomal hyaluronidase protein-coding 1344724 HYAL3 hyaluronoglucosaminidase 3 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. [provided by RefSeq] 1580863 16344560,17170110,18639473,20849445,10989127,11731267,11944887,14514708,16203124,16641997,15489334,12684632,12477932,12084718,11929860,10493834,10339581,20586096 8372 NM_003549,CH471055,U73167,U90094,AF036035,AF040710,AF502909,AF502910,AF502911,AF502912,AK313455,BC005896,DB319349,NM_001200029,NM_001200030,NM_001200031,DB269188,NM_001200032,CR608020,CR621832,BC012892 NP_003540,EAW65071,EAW65072,EAW65073,EAW65074,EAW65075,EAW65076,AAC02729,AAD04257,AAC70915,AAM60775,AAM60776,AAM60777,AAM60778,BAG36242,AAH05896,NP_001186958,NP_001186959,NP_001186960,NP_001186961,AAH12892,O43820,ABM82218,ABM85402 Hs.129910 HYAL-3|LUCA-3|LUCA14|LUCA3|Minna14 OTTHUMP00000211054|hyal-3|hyaluronidase 3|hyaluronidase-3|hyaluronoglucosaminidase-3|lung carcinoma protein 3 protein-coding 1347409 HYAL4 hyaluronoglucosaminidase 4 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq] 19889881,20379614,10493834,12477932,10989127,10737800,9847074 23553 AB470346,NM_012269,AC006029,CH236947,CH471070,AF009010,BC104788,BC104790,BC143654,BF085228,BG013757 BAI49593,NP_036401,AAD43186,EAL24331,EAW83603,AAC98883,AAI04789,AAI04791,Q2M3T9 Hs.28673 CSHY OTTHUMP00000212007|chondroitin sulfate hydrolase|hyal-4|hyaluronidase 4|hyaluronidase-4|hyaluronoglucosaminidase-4 protein-coding 1346836 HYALP1 hyaluronoglucosaminidase pseudogene 1 20210993,12690205,10493834 26062 NR_002731,AC006029,CH236947,AF149304 EAL24332 Hs.381305 HYAL6 pseudo 1352418 HYD2 hypodontia, autosomal recessive (2) 9529357 8137 1347981 HYDIN hydrocephalus inducing homolog (mouse) 634487 16938426,14702039,12719380,12477932,11347906,15342556,16344560,20379614 634487 54768 NM_032821,NM_017558,AC027281,AC099495,AC138625,CH471166,AK022933,AK026688,AK057467,AK074472,AK299016,AK299348,AK308296,AL122038,AL133042,AL137259,AL705531,BC028351,BC043273,CR611620,BP228881,DB079205,DB339472,NM_001198542,NM_001198543 NP_116210,NP_060028,EAW59249,BAB14314,BAB15527,BAG61096,BAG61346,CAB59178,CAB61370,CAB70660,AAH28351,AAH43273,Q4G0P3,NP_001185471,NP_001185472 Hs.461229,Hs.720911,Hs.721940 DKFZp434D0513|DKFZp434L0850|FLJ12871|FLJ14665|HYDIN1|HYDIN2|KIAA1864 hydrocephalus inducing|hydrocephalus-inducing protein homolog protein-coding 1605738 HYDIN2 hydrocephalus inducing homolog 2 (mouse) 17974005,16938426,15616553,15489334,14702039,11347906 100288805 AC109135,AC137783,AL360154,AB058767,AK027571,AL833826,AL834340,XR_110941 BAB47493,BAB55207,CAD38687,CAD39007 Hs.720911 DKFZp761B238|DKFZp761M1613|FLJ14665|KIAA1864 pseudo 1601737 HYI hydroxypyruvate isomerase homolog (E. coli) 14702039,12477932,10561547,16189514,17207965,12107412,8889548 81888 NM_031207,AL583862,CH471059,AF284750,AF284751,AK096244,AY037165,AY775560,BC006140,BC019041,BM715679,CA433653,CD672533,NM_001190880 NP_112484,CAI14889,CAI14890,CAI14891,CAI14892,CAI14893,EAX07090,EAX07091,EAX07092,EAX07093,EAX07094,AAG59852,AAG59853,BAG53238,AAK67642,AAV84474,AAH06140,AAH19041,Q5T013,Q5T014,ADQ32181,NP_001177809 Hs.709864 HT036|MGC20767|RP11-506B15.5 OTTHUMP00000008689|OTTHUMP00000008690|OTTHUMP00000008691|OTTHUMP00000008692|OTTHUMP00000008693|endothelial cell apoptosis protein E-CE1|hydroxypyruvate isomerase homolog|putative hydroxypyruvate isomerase protein-coding 1606679 HYLS1 hydrolethalus syndrome 1 This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 18648327,15843405,14702039,12477932,10486328,8889548,16169070,20379614,17207965 219844 NM_145014,NM_001134793,NG_011842,AP000842,CH471065,AK057477,AK127394,BC015047,BM970011,CR593293,CR599589,CR610025,CR617648,CR625776 NP_659451,NP_001128265,EAW67665,EAW67666,BAB71503,BAG54500,AAH15047,Q96M11,ADQ31909 Hs.585071 FLJ32915|HLS hydrolethalus syndrome protein 1 protein-coding 1345477 HYMAI hydatidiform mole associated and imprinted (non-protein coding) The gene, which generates an untranslated mRNA, exhibits differential DNA methylation between the 2 parental alleles at an adjacent CpG island and is expressed only from the paternal chromosome. This gene believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq] 16928428,16873690,15286800,12477932,11935319,10936046 57061 NR_002768,AL109755,AF241534,BC059359,NG_016174 Hs.657760,Hs.727108 NCRNA00020 miscrna 1606826 HYOU1 hypoxia up-regulated 1 The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. [provided by RefSeq] 19913121,20628086,17353931,9020069,19106412,18404158,17481612,17330988,17131193,16543725,16335952,16263699,15952740,15342556,15240565,12754519,12553534,12477932,11690552,11231630,10965054,10837345,10037731,9645760,9373149,9006956,8878445,8125298,19225868,19812200 10525 NM_006389,NM_001130991,AB009979,AP003392,CH471065,EF444986,AA580314,AK127324,AK222756,AK294905,AK297260,AK299648,AK301514,AK304264,AK307624,AK314178,BC004560,BC017726,BC072436,BE733065,BE791468,BP236985,BP358970,CR600509,CR601394,CR749610,DQ350134,DQ372932,U65785 NP_006380,NP_001124463,BAF80348,EAW67440,EAW67441,EAW67442,EAW67443,ACA06002,BAG54482,BAD96476,BAH11920,BAH12532,BAH13088,BAH13502,BAH14145,BAG36860,AAH04560,AAH17726,AAH72436,CAH18405,ABC75106,ABD14370,AAC50947,Q05D91,Q68D25,Q6IN67,Q9BST8,Q9Y4L1 Hs.277704 DKFZp686N08236|FLJ94899|FLJ97572|Grp170|HSP12A|ORP150 150 kDa oxygen-regulated protein|170 kDa glucose-regulated protein|GRP-170|ORP-150|glucose-regulated protein 170|hypoxia up-regulated protein 1|oxygen regulated protein (150kD) protein-coding 1605825 IAH1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 14702039,12477932 285148 NM_001039613,AC080162,CH471053,AK092982,AK291984,AK297648,BC019061,BC039709,BC059410,BC067865,BC111025,CR621865 NP_001034702,EAX00983,EAX00984,BAF84673,BAG60015,AAH19061,AAH59410,AAH67865,AAI11026,Q05D21,Q2TAA2,Q6NVV8,Q6PCA9 Hs.727610 MGC102860 isoamyl acetate-hydrolyzing esterase 1 homolog protein-coding 737044 IAPP islet amyloid polypeptide Islet, or insulinoma, amyloid polypeptide is commonly found in pancreatic islets of patients suffering diabetes mellitus type II, or harboring an insulinoma. While the assosciation of amylin with the development of type II diabetes has been known for some time, a direct causative role for amylin has been harder to establish. Studies suggest that amylin, like the related beta-amyloid (Abeta) associated with Alzheimer's disease, can induce apoptotic cell-death in particular cultured cells, an effect that may be relevant to the development of type II diabetes. [provided by RefSeq] 2313356,2313357,2311446,2313359,1580863 20630475,20923655,20735358,1282806,12717720,12717671,12706321,12706318,12679865,12611974,12589759,12588049,12540610,12477932,12441106,12367525,12298020,12221327,12086946,11979402,11786016,11318791,11246872,11145957,11076863,10931181,10385705,9794116,9115263,8845235,8772735,8771910,8605675,8557106,8468047,8307253,7929615,3535798,3317417,3181427,3053705,3035556,2690069,2651160,2546670,2365085,2223885,2189768,2039456,8152488,2608057,10342886,19346479,19554505,19427320,19244249,19151199,19148619,19002432,18989933,18989932,18815541,18751967,18710262,18624122,18615201,18556473,18497871,18486611,18483616,18408164,18291688,17911343,17804609,17722920,17660321,17617411,17563070,17495860,17475933,17374526,17353506,17213278,17212787,17123962,16950544,16866369,16804082,16531504,16403520,16331989,16303136,16204373,16142909,15983227,15929864,15878744,15811365,15778964,15710403,15638806,15527771,15522881,15358791,15342243,15321714,15292167,14659752,14656003,14613923,14578294,14532296,12767835,20186753,18240029,19146426,19338997,19402658,19538245,19573128,19578796,19647738,19720065,19794060,19810772,19817482,19948124,20028124,20416077,12036966,20509034,20887731,20421596,20429571,18577758,19931436,20536124,19913121,20628086 2313356,2313357,2311446,2313359 3375 AC006559,CH471094,M21785,M26650,M27503,X13859,X14902,X14903,X52818,X52819,X55634,X56030,X68830,BQ548699,CK905016,DQ516082,J04422,X14904,X14905,NM_000415 NP_000406,EAW96426,EAW96427,AAA51728,AAA35983,AAA35524,CAB57803,CAA33031,CAB57804,CAA37002,CAA39504,CAA48724,ABG27010,AAA52281,CAA33032,CAA33033,P10997,AAI11850 Hs.46835 AMYLIN|DAP|IAP Islet amyloid polypeptide (diabetes-associated peptide; amylin)|amylin|diabetes-associated peptide|insulinoma amyloid peptide|islet amyloid polypeptide protein-coding 1317850 IARS isoleucyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Two alternatively spliced variants have been isolated that represent alternate 5' UTRs. [provided by RefSeq] 1580863 18541383,7721108,16344560,15164053,12477932,9878398,9556618,9466989,8816763,8812440,8052601,1651330,17353931,10669760,10913161,11714285,16055448,19615732,20379614,8078941,8188258,8449960,9278442,18029348 3376 NM_002161,NM_013417,AL136097,CH471089,AB209234,AF113680,AK057920,AK293014,AK301272,AK308202,BC008318,BC065552,BX537417,BX537429,BX538109,BX647071,BX647236,BX647430,BX648567,CR608663,D28473,DA335066,U04953 NP_002152,NP_038203,CAI16197,CAI16198,CAI16199,CAI16200,CAI16201,CAI16202,CAI16203,EAW62809,EAW62810,EAW62811,EAW62812,EAW62813,BAD92471,AAF29582,BAF85703,BAG62834,AAH08318,AAH65552,CAD97659,CAD97671,CAD98022,BAA05835,AAA80153,P41252,Q59G75,Q5TCC4,Q5TCC6,Q5TCD1,Q6P0M4,Q7L4K8,Q7Z355,Q7Z3U5,Q9P1N9,ACE87393,ACE86708 Hs.445403 FLJ20736|IARS1|ILERS|ILRS|IRS|PRO0785 isoleucine tRNA ligase 1, cytoplasmic|isoleucine--tRNA ligase|isoleucine-trna synthetase|isoleucyl-tRNA synthetase, cytoplasmic protein-coding 1604336 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 19209188,17081983,16710414,15489334,14702039,12477932,9466989,20877624 55699 NM_018060,AC103590,CH471100,AK001188,AK001726,AK022665,AK291432,AY267462,AY952883,BC010218,BC040376,BC047880,BC137438,BI459732,BM149097,CR606160,CR621413,CR622315,D28500 NP_060530,EAW93305,BAA91544,BAB14164,BAF84121,AAP94033,AAH10218,AAH40376,AAH47880,AAI37439,BAA95147,Q9NSE4 Hs.262823 FLJ10326|ILERS OTTHUMP00000035401|isoleucine tRNA ligase 2, mitochondrial|isoleucine--tRNA ligase|isoleucine-tRNA synthetase 2, mitochondrial|isoleucyl-tRNA synthetase, mitochondrial|mitochondrial isoleucine tRNA synthetase protein-coding 1345507 IBD2 inflammatory bowel disease 2 8841195,9634527 3378 1348870 IBD3 inflammatory bowel disease 3 10577918 30829 1345387 IBD4 inflammatory bowel disease 4 10747815 50608 1346937 IBD5 inflammatory bowel disease 5 10777714 50941 1350571 IBD6 inflammatory bowel disease 6 10777714 50942 1352590 IBD7 inflammatory bowel disease 7 10814724,9636179 57042 1348016 IBD8 inflammatory bowel disease 8 170595 1351354 IBD9 inflammatory bowel disease 9 12354785 317669 1349696 IBGC1 idiopathic basal ganglia calcification 1 10441584 23706 1345945 IBM3 inclusion body myopathy 3, autosomal dominant 10205275,9708547 3380 735575 IBSP integrin-binding sialoprotein The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq] 1580863 20654748,2461939,2404984,20967421,3597437,19453261,19386107,19127545,19079262,18302613,17956871,17213971,17050866,16995818,16000302,15795688,14524533,12750290,12477932,11979972,11968014,11459848,11076863,8406493,8401509,8061918,10640428,19376608,19492334,20164292 3381 NM_004967,AC093768,CH471057,CS025624,L09554,L09558,L24756,L24759,AA452255,AI751848,BQ573754,DV462680,J05213 NP_004958,EAX05998,EAX05999,EAX06000,CAI61689,AAA60549,AAC37560,AAC95490,P21815,AAI11921 Hs.518726 BNSP|BSP|BSP-II|SP-II BSP II|bone sialoprotein 2|bone sialoprotein II|cell-binding sialoprotein|integrin binding sialoprotein|integrin-binding sialoprotein (bone sialoprotein, bone sialoprotein II) protein-coding 1323289 IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene binds to Bruton's tyrosine kinase (BTK) and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. [provided by RefSeq] 11577348,17353931,18596081,17081983,15489334,14574404,12477932,10718198,18029348,19782003 25998 BC092410,BC112929,BC113696,BC113698,BC143736,BC143745,BC143748,CB265364,CR600707,DQ005633,DQ005634,DQ005635,AL050333,CH471051,AB037838,AF235049,AJ420588,AJ420593,AK123460,AK126777,AL050018,BC012551,BC027483,BC027490,BC035860,BC038244,BC042171,NM_015525 AAH42171,AAI13697,AAI13699,AAI43737,AAI43746,AAY55906,AAY55907,AAY55908,Q9P2D0,NP_056340,CAI23414,CAI23416,EAW48685,EAW48686,EAW48687,EAW48688,BAA92655,AAG27170,BAG54372,CAB43239,AAH27490,AAH38244 Hs.306425 BTKI|KIAA1417|MGC142256|MGC142258|RP1-93K22.1 BTK-binding protein|Bruton agammaglobulinemia tyrosine kinase inhibitor|OTTHUMP00000220770|OTTHUMP00000220771|inhibitor of Bruton tyrosine kinase|inhibitor of Bruton's tyrosine kinase|inhibitor of Bruton's tyrosine kinase-alpha|inhibitor of Bruton's tyrosine kinase-beta|inhibitor of Bruton's tyrosine kinase-gamma protein-coding 2816631 IBTKP1 IBTK pseudogene 1 100127883 AC083760,NG_022990 pseudo 733652 ICA1 islet cell autoantigen 1, 69kDa This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 2311486,2311487,633043,2311488,1580863 12477932,12409289,12383988,11076863,10433084,9693970,9028728,8975715,8889548,8781774,8777998,8679127,8603775,8162706,7918678,7840858,7822811,7758883,7497880,17353931,12682071,8326004,18187231,16381901,16344560,15489336,15303579,20379614,20526340,18029348,20962850 2311486,2311487,633043,2311488 3382 NM_004968,NM_022307,NM_001136020,AC006042,AC007009,CH236948,CH471073,U71251,U71254,U71264,AA581444,AI346099,AK292106,BC005922,BC008640,BM716117,CR601104,CR605198,CR620744,CR624499,DB040266,EU416199,L01100,L21181,U26591,U26592,U37183,U38260,GN344071,GN344073 NP_004959,NP_071682,NP_001129492,AAD50515,EAW93610,EAW93611,EAW93612,EAW93613,EAW93614,EAW93615,EAW93616,EAW93617,EAW93618,EAW93619,AAB94738,AAB94737,BAF84795,AAH08640,ACB47390,AAA02564,AAA64927,AAB19033,AAB19034,AAC50935,AAC50936,Q05084,Q6LCR0,Q6LCT9,Q96HG3,Q9UDQ6,CAL37894,ABM82431,ABW03414,EAW93620,CAY55971,CAY55972 Hs.487561 ICA69|ICAp69 69 kDa islet cell autoantigen|OTTHUMP00000200934|OTTHUMP00000200941|diabetes mellitus type I autoantigen|islet cell autoantigen 1|islet cell autoantigen 1 isoform|islet cell autoantigen 1, 69 kda|islet cell autoantigen p69|p69 protein-coding 1346474 ICA1L islet cell autoantigen 1,69kDa-like 16344560,15815621,15489334,14702039,12477932,11586298,20379614 130026 NM_138468,NM_178231,AC010900,AC098831,AC131950,CH471063,AB053316,AB053317,AK055978,AK092310,AK124756,AL833904,BC000993,BC063876,BC093902,BC112235,DB097704,DB496884 NP_612477,NP_839945,AAY24286,AAY24091,AAY15007,EAW70313,EAW70314,EAW70315,EAW70316,BAB69024,BAB69025,BAB71062,CAD38760,AAH00993,AAH63876,AAH93902,AAI12236,Q8NDH6,BAG52528 Hs.516629 ALS2CR14|ALS2CR15|DKFZp434E1919|MGC138440 Ica69-related protein|OTTHUMP00000206072|OTTHUMP00000206073|OTTHUMP00000206264|OTTHUMP00000208098|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein|islet cell autoantigen 1-like protein protein-coding 69659 ICAM1 intercellular adhesion molecule 1 This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq] 2313467,2313468,2313469,2313472,2313474,2313475,2312765,2313476,2312766,2313470,2313471,2306987,2306988,2313473,1358664,1625758,1625756,1625753,1580863,4145465,4145348,4145368,4145375,4145405,4145427,4145485,4145501,4145436,4145493,4145407,4145429,4140425,4145336,4144131,4145520,4145507,4145511,4145621,2325165,4145364,4145388,4145510,4145328,4145390,4145519,4145521,4145331,4145532,4145329,2325163,4145365,4145518,4145522,4145335,4145516,4145409,4145422,4145440,4145459,4145464,4145490,2308951,4145377,4145414,4145446,4145497,4145502,4145509,4145463,4145444,4145449,4145536,4145523 20529672,18683786,19913121,20485444,20536507,20574001,20585554,20588308,20602615,20603037,20628086,20712868,18710612,20184510,20193033,20511548,20596527,19074885,19074768,19064572,19055786,19050286,19048183,19030842,19028820,19022587,19021457,18996288,18979153,18974842,18974840,18942221,18851856,18848929,18842965,18828734,18820595,18809679,18801041,18791855,18791689,18787016,18768924,18761738,18751468,18707907,18703796,18703101,18692491,18676680,18667484,18647548,18636124,18633131,18627514,18613029,18604267,18597403,18574676,18539414,18528404,18523306,18513389,18508964,18505543,18504269,18486623,18474291,18473826,18454303,18446055,18440309,18420209,18415799,18403635,18401716,18392953,18363879,18362147,18361930,18322230,18297282,18295170,18284603,18260262,18256065,18233990,18230913,18227124,18212564,18200516,18199704,18197885,18186794,18164036,18057581,18045607,18028430,17990298,17982228,17977219,17974148,17963163,17962718,17962597,17956423,17954174,17943642,17942534,17913807,17908278,17891599,17885215,17875742,17873320,17868277,17803991,17786132,17785844,17710630,17708604,17706953,17706337,17704297,17703412,17677000,17657162,17640650,17609265,17607549,17598660,17593226,17591781,17591777,17583675,17564956,17560459,17551301,17531998,15334773,15334673,15331736,15331359,15313174,15308783,15304054,15294853,15290909,15279951,15272865,15246972,15221034,15212674,15210758,15208262,15169768,15140794,15123348,15094060,15081401,15080580,15059493,15057477,15048650,15013836,15009098,14993495,14984317,14975197,14763979,14763917,16041273,16023325,16021473,16004874,16002039,15958383,15958080,15952122,15948767,15919214,15917409,15914533,15896355,15886114,15883744,15866119,15864742,15854776,15853902,15831709,15817812,15800027,15774488,15760456,15756053,15736117,15724813,15713910,15682683,15666579,15665526,15654951,15650392,15611342,15607204,15593054,15583842,15572059,15560890,15550998,15548573,15545280,15489334,15448102,15389590,15387368,15379751,15361125,15353596,15342556,14742996,14741380,14737745,14734737,14722298,14714557,14695458,14643123,14634129,14609725,14605444,14572618,14572449,14557478,14551606,14550782,14534081,14533030,14504278,12958678,12954625,12946329,12940514,12939654,12918698,12915579,12871600,12829919,12808331,12798307,12788528,12783123,12783117,12768436,12745437,12714566,12714373,12673844,12660796,12660163,12645577,12637697,12624779,12600815,12595908,12590979,17082600,17062505,17056576,17051589,17012367,17012252,17008592,16978373,16970684,16963052,16951376,16938116,16937502,16931899,16930678,16920698,16920492,16916660,16916657,16914605,16857989,16844085,16824729,16820586,16773720,16759306,16750586,16741608,16733712,16705652,16680245,16625213,16622032,16611655,16604499,16604496,16604055,16570073,16512757,16507929,16506060,16497620,16492228,16482425,16471223,16434609,16432463,16429128,16428725,16426244,16358956,16335952,16332693,16320110,16317091,16313300,16299052,16288711,16270299,16266408,16184405,16177322,16177300,16158332,16152613,16152588,16122754,16100282,16097065,16043164,17521325,12533701,12530121,12529420,12526797,12524171,12509902,12506144,12498973,12496412,12480084,12477932,12477764,12402194,12393699,12391099,12370391,12368450,12220988,12207164,12192299,12181421,12175089,12172576,12172318,12147222,12127369,12117984,12097820,12097408,12095649,12086338,12082592,12039084,12027924,12020443,12011765,11983205,11983194,11963839,11956618,11953106,11936473,11935152,11929876,11922919,11922836,11914659,11911111,11893710,11882338,11881155,11877286,11847011,11838958,11837795,11831864,11831440,11817671,11786177,11776680,11751911,11726228,11716965,11508575,11469468,11441079,11409120,11361181,11354638,11279101,11250042,11073102,11072593,10985244,10699175,10602408,10562537,10493852,10477700,17517105,17497038,17476188,17429072,17397790,17390085,17389327,17361014,17340048,17337890,17334226,17328035,17309130,17292586,17278022,17255534,17237434,17237399,17195014,17192354,17190650,17184150,17174307,17142773,17136392,17126824,17116732,17115895,17112530,17090406,17089918,10198043,9792375,9705328,9539703,9539702,9488691,9269771,9259284,8821031,8568270,8557254,8432525,8095960,7822297,7794538,7642561,7525451,3871395,3340213,3257922,2566624,2544880,2453850,1983003,1976256,1722744,20459645,20409464,20409465,18231758,20362293,20662732,20951945,20570633,20430730,20568250,20587315,20819778,20940515,21037509,21067572,20107176,20389059,20647315,19078988,18656701,10391210,1712819,15829968,1448173,12716892,2538243,2477710,12082081,12902516,16038038,18029348,9290466,11857637,3349522,19597294,19587357,19587009,19573080,19559392,19554506,19548631,19501575,19497039,19479237,19429776,19420105,19419934,19407978,19407977,19357230,19353432,19351910,19340565,19338980,19332210,19306055,19263529,19262138,19258923,19237221,19225705,19225544,19212205,19211748,19203796,19169973,19154405,19141396,19136619,19131662,19129609,19114730,19102398,19092999,19088500,1705751,1683685,1683616,1680919,1680698,1680025,1677359,1625472,1374132,1361527,17083721,7917519,9865497,8558011,14691297,14581566,11517385,7913356,15183063,8450224,12775419,11896203,7904170,16272310,12853962,8086129,10352278,12208882,19249917,20151764,20219985,16799092,16809613,17311092,18243419,18834676,18930765,19136145,19170196,19175829,19217936,19219419,19278584,19330816,19373518,19423540,19434537,19483084,19494354,19500134,19520829,19524015,19524923,19540498,19564823,19578796,19615354,19625176,19692168,19701669,19701972,19714575,19717975,19724852,19729601,19747913,19764564,19773279,19822019,19825506,19882756,19896127,19898481,19906207,19914206,19917355,19922364,19935876,19948975,19949084,19954409,20004360,20056088,20056178,20056442,20110463,20137698,20160446,20164172,20167578,20191078,20237496,20304924,20331378,20360547,20406964,20416077,20422421,20432452,20438785,20445114,20494378,20503287,20508517,18626404,20405289,20552237,20665551,21078912,21102463,21039424,19567179,20837907 2313467,2313468,2313469,2313472,2313474,2313475,2312765,2313476,2312766,2313470,2313471,2306987,2306988,2313473,1358664,1625758,1625756,1625753,4145465,4145348,4145368,4145375,4145427,4145485,4145501,4145436,4145493,4145407,4145429,4140425,4145336,4144131,4145520,4145507,4145511,4145621,2325165,4145364,4145510,4145328,4145390,4145519,4145521,4145331,4145532,4145329,2325163,4145365,4145518,4145522,4145335,4145516,4145409,4145422,4145440,4145459,4145464,4145490,2308951,4145377,4145414,4145446,4145497,4145502,4145509,4145463,4145444,4145449,4145536,4145523 3383 NM_000201,NG_012083,AC011511,AY225514,CH471106,M65001,U86814,X57151,X59286,AF340038,AF340039,AK130659,AK298054,AK298983,AK301412,AK312636,BC015969,BG149901,BP346334,BT006854,CR617464,J03132,M24283,M55038,M55091,S82847,X06990 NP_000192,AAO30128,EAW84086,EAW84087,AAA52710,AAB51145,CAA40441,CAA41977,AAQ14901,AAQ14902,BAG60348,BAG61077,BAG62944,BAG35520,AAH15969,AAP35500,AAA52709,AAA52708,AAA60393,AAB46863,CAA30051,O00177,P05362,Q14601,Q15463,Q5NKV8,Q99930,ABM92232,ABM84711 Hs.643447 BB2|CD54|P3.58 ICAM-1|cell surface glycoprotein P3.58|human rhinovirus receptor|intercellular adhesion molecule 1|intercellular adhesion molecule 1 (CD54), human rhinovirus receptor|major group rhinovirus receptor protein-coding 1351795 ICAM2 intercellular adhesion molecule 2 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 11857637,20955708,2497351,18978946,18842965,18155766,17609265,17059578,16987074,16857989,16335952,15572059,15548573,15545280,15489334,14970226,12477932,12193230,12097408,11869363,11375520,11017109,10352278,10077629,10050664,9786897,9759625,9726832,9705328,9638475,9473377,9472040,9378774,9373149,9153399,8889548,8870715,8858161,8125298,7916296,7905020,7553659,7526720,1769660,1676048,1448173,18768213,19175829,19423540,19524015,20237496,20406964,20438785 3384 NM_001099787,NM_001099786,NM_001099789,NM_001099788,NM_000873,AC005803,AF212826,CH471109,M32331,M32334,AB209878,AF340052,AF340053,AK223219,AK293110,BC003097,BM695682,BX363874,CA841927,CR541812,CR541834,CR596124,CR599245,CR599573,CR599930,CR600674,CR615927,CR621141,X15606,GN336652 NP_001093257,NP_001093256,NP_001093259,NP_001093258,NP_000864,AAF34580,EAW94216,EAW94217,EAW94218,EAW94219,EAW94220,AAA36035,BAD93115,AAQ14909,AAQ14910,BAD96939,BAF85799,AAH03097,CAG46611,CAG46633,CAA33630,P13598,Q59ED3,Q6FHE2,Q9NZC6,ABM82769,ABM85957,CAY39145 Hs.431460 CD102 ICAM-2|intercellular adhesion molecule 2 protein-coding 1343048 ICAM3 intercellular adhesion molecule 3 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. [provided by RefSeq] 1580863 19913121,20628086,1448174,8459213,11857637,1448173,18354203,18261116,17913807,17591777,17570115,17145745,16335952,15958383,15880373,15572059,15163761,14970226,14726630,14718574,14704632,12743567,12600815,12571844,12477932,12021323,11799126,11784723,11353828,11257134,11179968,11017109,10721994,10626904,10380912,9661300,9638475,9539703,9473377,9373149,9298994,9268366,8889548,8777714,8605703,8325327,8125298,7876557,7851905,7836774,7822326,7553659,7523142,7482494,12082081,15728350,16169070,19225705,19423540,19801714,19898481,19956847,20086017,20331378,20406964,20438785,9705328,21102463 3385 AC011511,AC114271,CH471106,DQ217937,AF340060,AF340061,AK226023,AK309643,AK312826,BC034409,BC040123,BC046121,BC058903,BM676382,CR590853,CR594982,CR623746,DC425414,S50015,X69711,X69819,NM_002162 P32942,Q5NKU1,NP_002153,EAW84092,EAW84096,ABB01007,AAQ14917,AAQ14918,BAG35683,AAH58903,AAB24331,CAA49369,CAA49473 Hs.654563 CD50|CDW50|ICAM-R ICAM-3|intercellular adhesion molecule 3|intercellular adhesion molecule-3 protein-coding 1319054 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 19913121,20622166,20628086,20568250,8566017,6431896,11857637,17609430,16985175,16564726,15847654,15489334,15355350,15308566,14551135,12694184,12477932,12477717,11435317,10846180,9638475,8639917,8563755,8202485,7632968,18549656,19423540,19729601,19773279,20167578,20331378,20406964,20416077,20438785,18604267 3386 NM_022377,NM_001544,NM_001039132,NG_007728,AC011511,CH471106,DQ011692,X93093,BC000046,BC029364,BT009816,L27670,L27671,S78852 NP_071772,NP_001535,NP_001034221,EAW84088,EAW84089,EAW84090,AAY16986,CAA63646,AAH00046,AAH29364,AAP88818,AAA59537,AAA59538,AAB35046,Q14773,Q9BWR0,ABM83576,ABM86815 Hs.706750 CD242|LW CD242 antigen|ICAM-4|LW blood group protein|Landsteiner-Wiener blood group antigen a|Landsteiner-Wiener blood group glycoprotein|intercellular adhesion molecule 4|intercellular adhesion molecule 4 (LW blood group)|intercellular adhesion molecule 4, landsteiner-wiener blood group protein-coding 1312830 ICAM5 intercellular adhesion molecule 5, telencephalin The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq] 1580863 20568250,8995416,19124506,18223167,17293864,16733712,16434609,15144186,12665801,12477932,11719200,10893271,10741396,10592287,10402269,9828136,9717930,9638475,9556028,7724062,19913121,20628086,20644561,19423540,19773279,20237496,20331378,20406964,20438785 7087 AC011511,AF082802,CH471106,AI199660,AI568610,BC026338,BC030132,U72671,NM_003259 NP_003250,AAC97931,EAW84091,AAH26338,AAH30132,AAC50959,Q8N6I2,Q8TAM9,Q9UMF0 Hs.465862 TLCN|TLN ICAM-5|intercellular adhesion molecule 5|telencephalin protein-coding 1353321 ICCA infantile convulsions and paroxysmal choreoathetosis 9382100 3387 1345110 ICK intestinal cell (MAK-like) kinase Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq] 10699974,19240061,19185282,18029348,16344560,15988018,15489334,15231748,14574404,12477932,12103360,10231032,16954377,19696144,20459822 22858 NM_014920,NM_016513,NG_012159,AL031178,CH471081,AB023153,AF152469,AF225919,AL162581,AI699136,AJ420557,AK074892,BC035807,BC136420,BC136421,BC152464,BX647493,CR608568,DA456873 NP_055735,NP_057597,CAI20261,CAI19518,EAX04400,EAX04401,EAX04402,EAX04403,EAX04404,BAA76780,AAG43364,AAF37278,BAG52026,AAH35807,AAI36421,AAI36422,AAI52465,Q9UPZ9 Hs.417022 ECO|KIAA0936|LCK2|MGC46090|MRK MAK-related kinase|hICK|laryngeal cancer kinase 2|serine/threonine protein kinase|serine/threonine-protein kinase ICK protein-coding 1603405 ICMT isoprenylcysteine carboxyl methyltransferase This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq] 10441503,9614111,19161160,19158273,17347446,15489334,15146197,14966563,14702039,12750467,12631708,12477932,12006387,11906819,10649571,10412982,19651782,19841875 23463 AL564343,BC017037,BC028168,BU616418,CN343480,CR541671,CR541711,CR595162,CR605804,NM_012405,AL031847,CH471130,AF064084,AF173157,AK092890,AL117548 AAH28168,CAG46472,CAG46512,O60725,Q6FHT0,Q7Z750,Q9NRT1,NP_036537,CAI19441,EAW71522,EAW71523,AAC16554,AAF89831,BAG52623 Hs.515688 HSTE14|MGC39955|MST098|MSTP098|PCCMT|PCMT|PPMT prenylated protein carboxyl methyltransferase|prenylcysteine carboxyl methyltransferase|protein-S isoprenylcysteine O-methyltransferase|protein-S-isoprenylcysteine O-methyltransferase protein-coding 1344621 ICOS inducible T-cell co-stimulator The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq] 1624274,1624268,1624276,1624269,1624275,1580863 20596022,9930702,19380800,19376499,19376178,19333938,19332044,19265111,19247692,19222422,19202444,19194830,19175887,19095735,19020530,18973208,18641334,18396212,18337305,18292519,18174230,18172933,18051214,17481737,17414714,17323353,17242332,17197413,17077177,16996590,16790364,16670305,16638702,16563187,16512757,16237465,16112024,16081771,16005527,15953005,15941568,15699127,15657618,15629449,15507387,15489334,15339883,15265908,15100277,14988837,14610488,14550257,12919091,12864987,12784384,12753665,12577056,12477932,12207353,12195015,12456021,11956294,11904679,11771526,11735222,11169414,11104797,11023515,11006126,10964520,10779774,10657606,10617205,12538664,19547759,19672595,19824886,19913589,19931508,19959217,20113255,20190752,20237496,20331378,20435510,20453000,20817864,17207965,21084022,20207847 1624274,1624268,1624276,1624269,1624275 29851 NG_011586,AC009965,AC103880,AF411058,AF411059,AF488347,AJ535718,CH471063,CS008892,CS008894,EF064727,AB023135,AJ277832,AK314985,BC028006,BC028210,CB528580,NM_012092,GN093455,HH957989,HI574348 NP_036224,AAX93073,AAL40933,AAL40934,AAM00909,CAD59742,EAW70355,EAW70356,EAW70357,CAI53650,CAI53651,ABK41910,BAA82129,CAC06612,BAG37484,AAH28006,AAH28210,Q53QY6,Q9Y6W8,ADQ32686,CAX87085,CBX47663,CBX51258 Hs.56247 AILIM|CD278|CVID1|MGC39850 OTTHUMP00000208080|activation-inducible lymphocyte immunomediatory molecule|inducible T-cell costimulator|inducible costimulator protein-coding 1354040 ICOSLG inducible T-cell co-stimulator ligand 11429535,11983910,12145647,19347721,19202444,18587394,18294651,17242332,16951355,16335952,16221208,16115907,15489334,15131796,15047568,14702039,14603470,12960306,12800259,12707012,12477932,12456022,11956294,11390480,11023515,11007762,10779774,10657606,9734811,17207965,19760754,21072187,19913121,20628086,20677014,19395451,19726311,19737469,20176734,20190752,20217071 23308 CH471079,EF064726,AB014553,AF199028,AF216749,AF289028,AI659611,AK090492,AK290192,AK294031,AK311496,AK314369,AK316143,AK316176,AL355690,BC064637,CR595366,GN093450,NM_015259,AP001058,AP001059,AX100595 CAC36465,EAX09446,EAX09447,EAX09448,ABK41909,BAA31628,AAF34739,AAK16241,AAG01176,BAG52170,BAF82881,BAH11654,BAG36999,BAH14514,BAH14547,AAH64637,O75144,ADQ32610,CAX87084,NP_056074 Hs.14155 B7-H2|B7H2|B7RP-1|B7RP1|CD275|GL50|ICOS-L|ICOSL|KIAA0653|LICOS B7 homolog 2|B7-like protein Gl50|B7-related protein 1|ICOS ligand|transmembrane protein B7-H2 ICOS ligand protein-coding 1353855 ICR1 ichthyosis congenita I, erythromatous lamellar ichthyosis, ichthyosiform erythroderma 3388 1345761 ICR2B ichthyosis congenita II, lamellar ichthyosis B 3389 1344536 ICR3 ichthyosis congenita III, vulgaris-like recessive ichthyosis 3390 1353770 ICR4 ichthyosis congenita IV, ichthyosis-prematurity syndrome 3391 1349639 ICR5 ichthyosis congenita V, Sjogren-Larsson-like 3392 1345035 ICS1 immotile cilia syndrome 1 1601418 3393 1317429 ICT1 immature colon carcinoma transcript 1 The adult colon epithelium contains 3 differentiated cell types that arise from a multipotent stem cell. Deviation from the normal maturation pathway by neoplastic transformation is thought to initiate in stem cells or their early descendants. One potential marker is ICT1 whose mRNA and protein were more highly expressed in undifferentiated than in differentiated cells. [provided by RefSeq] 1580863 15489334,12477932,9373149,8575443,8125298,7545548,20877624,20598281,20186120 3396 AC087651,CH471099,AK222553,AK314138,BC015335,BT007111,X81788,NM_001545 NP_001536,EAW89227,BAD96273,BAG36828,AAH15335,AAP35775,CAA57387,Q14197,ABM81581,ABM84760 Hs.407955 DS-1 digestion substraction 1|immature colon carcinoma transcript 1 protein|peptidyl-tRNA hydrolase ICT1, mitochondrial protein-coding 736819 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15575081,15494533,15489884,15489334,15370294,15322112,15163661,15064751,15041724,15026801,14755252,14742319,14690332,14688027,12949053,12947323,12881706,12823438,12787042,12719589,12718878,12576450,12547711,12477932,12296825,12203366,12020803,12016143,11940648,11896613,11780052,11756408,11729207,11591653,11234019,11085505,10419887,10022839,9242638,9235903,9070860,8586447,8294468,8086456,7637581,15361847,15029197,12145280,9528857,8380166,9584154,19951400,19766362,20211142,15138269,15694377,17855368,17891176,14522471,19491902,19453261,19330020,19288008,19217708,19201527,19079362,19079342,19014499,19002177,18922905,18842581,18752043,18674781,18648363,18583319,18559972,18556654,18436795,18413773,18372912,18353975,18240291,18202790,18158619,18072288,18000500,17916352,17599389,17565736,17537403,17426247,17202424,17145808,17102133,17072841,16894355,16682435,16552541,16525633,16506209,16469432,16287090,16271072,16189525,16123120,16115231,16029118,16007194,16002046,15905202,15877825,15744343,15701714,15645115,15579766,19031736,19423615,19438642,19515385,19551863,19567783,19571317,19643984,19644139,19710505,19843640,19906510,19926394,20003244,20010941,20070914,20195544,20388787,20515335,20522807,18542061,20186495,20887552,16556596,19125693,20697353 3397 NM_002165,AL110115,AL117381,CH471077,U57645,AK291152,AK313786,BC000613,BC012420,BG546814,BT007443,CR591965,CR592689,CR593062,CR599901,CR600217,CR610338,CR615862,CR621997,NM_181353,CR626444,D13889,D13890,S78825,S78986,X77956 NP_851998,NP_002156,CAC14950,CAI20171,CAI23029,CAI23030,EAW76432,EAW76433,EAW76434,AAC13882,AAC13883,BAF83841,AAH00613,AAH12420,AAP36111,BAA02988,BAA02989,AAB35038,AAB35037,CAA54920,P41134,ABM82219,ABM84268,ABM85403,ABM87656,ABW03909,ABW03919,ABW03609 Hs.504609 ID|bHLHb24 DNA-binding protein inhibitor ID-1|class B basic helix-loop-helix protein 24|dJ857M17.1.2 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein)|inhibitor of differentiation 1|inhibitor of dna binding 1, helix-loop-helix protein (splice variation) protein-coding 732001 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein The protein encoded by this gene belongs to the inhibitor of DNA binding (ID) family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the ID family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene has been identified for this gene. [provided by RefSeq] 1580863 20628624,16556596,20565746,16776654,20861012,18029348,10915743,15249128,14627819,1741406,19330020,19321746,19269192,19260835,19257909,19129913,19099554,19043732,19010462,18806828,18490653,18436795,18281534,18085637,18000500,17631285,17630394,17431671,16877363,16810178,16705184,16682435,16549780,16311606,16223775,16169070,15744343,15701714,15691830,15645115,15489334,15252039,15041724,14733935,14612502,14582708,12878164,12824180,12670915,12657241,12598895,12545167,12527902,12483209,12477932,12447693,11940648,11782392,11756408,11591653,11560778,11301021,11134340,11034201,10891368,10585876,10502414,10067894,10022839,9373149,9242638,9029153,8649364,8586447,8294468,8224921,8125298,7926730,9584154,8576241,17274640,19180920,19368689,19417068,19423615,19453261,19733838,19950294,20388805,20483740 3398 NM_002166,AC011747,CH471053,AK222682,AK311988,AY634687,BC030639,BE222494,CR607131,CR611001,CR614653,CR620423,CR620531,CR623038,CR626410,D13891,M97796 NP_002157,AAY14810,EAX01018,EAX01019,BAD96402,BAG34927,AAV35470,AAH30639,BAA02990,AAA58681,Q02363,Q53H99,Q53T66,ABM81784,ABM84939 Hs.180919 GIG8|ID2A|ID2H|MGC26389|bHLHb26 DNA-binding protein inhibitor ID-2|DNA-binding protein inhibitor ID2|OTTHUMP00000140258|OTTHUMP00000200297|cell growth-inhibiting gene 8|class B basic helix-loop-helix protein 26|helix-loop-helix protein ID2|inhibitor of differentiation 2 protein-coding 1349998 ID2B inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene) 1580863 8224921 84099 NR_026582,AC104849,M96843 AAA16865 Hs.591670 pseudo 734069 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein Members of the ID family of helix-loop-helix (HLH) proteins lack a basic DNA-binding domain and inhibit transcription through formation of nonfunctional dimers that are incapable of binding to DNA.[supplied by OMIM] 1580863 8437843,1628620,14627819,19054058,18477564,18374504,18281048,17537403,16710414,16682435,16449966,16271072,15645115,15583422,15494533,15489334,16556596,15370294,15342556,12952978,12547711,12477932,12054881,11940648,11756408,11591653,10593873,10585876,10022839,9821964,9525934,9372912,9242638,8999959,8804437,8798572,8759016,8645731,8632670,7828896,7821789,7777541,19477940,19515385,19948975,20185798 3399 A17546,A17548,AL021154,CH471134,X73428,AK290003,BC003107,BM921819,BP193075,BT006791,CR597388,CR603067,CR611504,CR612668,CR615457,D28449,X66924,X69111,NM_002167 CAA48862,Q02535,CAA01342,CAA01343,ABM83430,ABM86465,ABM86643,NP_002158,CAA15950,EAW95060,EAW95061,CAA51827,BAF82692,AAH03107,AAP35437,BAA05815,CAA47360 Hs.76884 HEIR-1|bHLHb25 DNA-binding protein inhibitor ID-3|ID-like protein inhibitor HLH 1R21|class B basic helix-loop-helix protein 25|helix-loop-helix protein HEIR-1 protein-coding 736051 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein Transcription factors containing a basic helix-loop-helix (bHLH) motif regulate expression of tissue-specific genes in a number of mammalian and insect systems. DNA-binding activity of the bHLH proteins is dependent on formation of homo- and/or heterodimers. Dominant-negative HLH proteins encoded by Id-related genes, such as ID4, also contain the HLH-dimerization domain but lack the DNA-binding basic domain. Consequently, Id proteins inhibit binding to DNA and transcriptional transactivation by heterodimerization with bHLH proteins (Pagliuca et al., 1995 [PubMed 7665172]).[supplied by OMIM] 1580863 17474147,7665172,11136250,19543515,18807039,18676808,18575765,18513385,17940204,17510533,16682435,15876350,15723065,15569977,15489334,14633621,14574404,14534543,12969807,12477932,11756408,9872455,9418957,8759016,18088456,18426657,18549611,19783986,19853913,20201924,20339536 3400 NM_001546,AL022726,CH471087,AK130851,BC014941,U16153,U28368,Y07958 NP_001537,CAA18779,EAW55416,AAH14941,AAA82882,AAA73923,CAA69255,P47928 Hs.519601 IDB4|bHLHb27 DNA-binding protein inhibitor ID-4|class B basic helix-loop-helix protein 27 protein-coding 1348687 IDDM10 insulin-dependent diabetes mellitus 10 734541 734541 3409 1354194 IDDM11 insulin-dependent diabetes mellitus 11 8617492 3410 1344899 IDDM12 insulin-dependent diabetes mellitus 12 8817351 3411 1347272 IDDM13 insulin-dependent diabetes mellitus 13 8650584 3412 1350047 IDDM14 insulin-dependent diabetes mellitus 14 3413 1348722 IDDM15 insulin-dependent diabetes mellitus 15 8981961 3414 1352929 IDDM16 insulin-dependent diabetes mellitus 16 3415 1353800 IDDM17 insulin-dependent diabetes mellitus 17 734512 734512 8691 1345918 IDDM18 insulin-dependent diabetes mellitus 18 57044 1346720 IDDM2 insulin-dependent diabetes mellitus 2 1944595 3401 1349326 IDDM3 insulin-dependent diabetes mellitus 3 7842018 3402 1351919 IDDM4 insulin-dependent diabetes mellitus 4 7842018,8072542 3403 1348820 IDDM5 insulin-dependent diabetes mellitus 5 8072542 3404 1351545 IDDM6 insulin-dependent diabetes mellitus 6 1298359 1298359 3405 1345102 IDDM7 insulin-dependent diabetes mellitus 7 7813807 3406 1347496 IDDM8 insulin-dependent diabetes mellitus 8 7573053 3407 1350561 IDDM9 insulin-dependent diabetes mellitus 9 3408 732801 IDE insulin-degrading enzyme This gene may belong to a protease family responsible for intercellular peptide signalling. Though its role in the cellular processing of insulin has not yet been defined, insulin-degrading enzyme is thought to be involved in the termination of the insulin response. [provided by RefSeq] 1626696,1626697,1626698,737718,737717,1580863 19913121,20628086,20724036,20581827,20703447,16385451,17613531,17715127,19053027,19396426,19592050,19592620,19602701,19606063,19622614,19741166,19785409,19794065,19808678,19808892,19809796,19862325,19864391,19864659,19889475,19896952,19933996,20082125,20098734,20161779,20203524,20362553,20380468,20384434,20460429,20490451,20816152,20877624,20880607,20927120,20663017,20033747,2293021,3059494,9830016,8425612,19453261,19383491,19321446,19239107,19228808,19139842,19082521,18996360,18986166,18984664,18977241,18813847,18783335,18719881,18633108,18621727,18618095,18591388,18448515,18426861,18411275,18226493,18212765,17971426,17964527,17953957,17913278,17827400,17804762,17601350,17579348,17496198,17463249,17293876,17244626,17192785,17192720,17143514,17055432,17051221,16914266,16876916,16675064,16574064,16511862,16380485,16344560,15911128,15858821,15858813,15850385,15718037,15590928,15489232,15285718,15277615,15277398,15181249,15088150,15024728,14764804,14755451,14702039,14517947,12850277,12765971,12746301,12716770,12634421,12507914,12477932,12161276,11809755,11145591,10684867,9070242,8077210,8051160,7731996,6401723,1743072,1733942,1607078,758022,20364150,19019493,20971110 1626696,1626697,1626698,737718,737717 3416 AL356128,CH471066,AB209204,AK093287,AK302578,NM_004969,AK312810,AK316407,BC036188,BC096336,CF780766,CK824565,DA879845,DB219527,DB445060,NG_013012,NM_001165946,HB485919,BC096337,BC096338,BC096339,BX648462,DA643304,DB204538,M21188 CAI13669,CAI13670,EAW50090,EAW50091,EAW50092,EAW50093,BAD92441,BAG52680,BAH13752,NP_004960,BAG35668,BAH14778,NP_001159418,CBA13324,AAH96336,AAH96337,AAH96339,AAA52712,P14735,Q59GA5 Hs.500546 FLJ35968|INSULYSIN Abeta-degrading protease|insulin degrading enzyme|insulin protease|insulin-degrading enzyme|insulinase 2314830 INSUL25_H protein-coding 737145 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. [provided by RefSeq] 1626475,1300048,1580863 20131059,20560678,20567020,20603105,20625116,20634891,20651067,20659156,20667415,20678218,20702649,20805365,9866202,19636000,19554337,19543740,19469031,19411854,19378339,19359588,19351817,19340432,19246647,19228619,19117336,18985363,18772396,16751257,16381901,16236267,15936593,15489336,15489334,15173171,12923220,12477932,11256614,11230166,11076863,10521434,7551812,4422176,4388365,3861566,16169070,21130701,21173122,20975057,16756494,20077503,20459648,20485375,20171147,19350208,19435942,19657110,19667985,19755387,19765000,19805672,19915015,19915484,19933982,19935646,20097881,20129251,20133500,20160062,20171178,20227112,20367200,20368538,20368543,20376084,20376086,20410924,20427748,20494930,20508616,20538800,19903171,20127344,20465388,20661018,20692206,21083371,20142433,20510884,20514489,20174854,20877624,20880116,20946881,20962861,21061328,21075857,21079611,21080178,21088844 1626475 3417 CR594054,CR608733,CR622041,DQ403082,U62389,AC016697,AF197566,CH471063,AF020038,AF113917,AK302105,AK312242,AL136702,BC012846,BC021046,BC093020,BX537411,CR533522,CR536499,CR541695,NM_005896,NG_023319 CAG46496,ABD77215,AAB17375,O75874,Q0QER2,Q567U4,Q6FHQ6,Q6FI37,Q6FIA4,Q9H302,CAL37462,CAL37490,CAL38069,ABM82361,ABW03396,NP_005887,AAX93221,AAG43470,EAW70439,EAW70440,EAW70441,EAW70442,AAD02918,AAD29284,BAG63486,BAG35175,CAB66637,AAH12846,AAH93020,CAD97653,CAG38553,CAG38738 Hs.714620,Hs.593422 IDCD|IDH|IDP|IDPC|PICD NADP(+)-specific ICDH|NADP+-specific ICDH|NADP-dependent isocitrate dehydrogenase, cytosolic|NADP-dependent isocitrate dehydrogenase, peroxisomal|cytosolic NADP-isocitrate dehydrogenase|isocitrate dehydrogenase 1|isocitrate dehydrogenase [NADP] cytoplasmic|oxalosuccinate decarboxylase protein-coding 1313391 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. [provided by RefSeq] 1580863 20131059,20567020,20603105,20625116,20659156,20678218,20171147,8954790,19228619,18484410,18096511,17854715,16396496,15489334,12665801,12477932,9373149,8707889,8125298,3363531,970033,965003,752528,564083,11969,20465388,20847235,20975057,21173122,18029348,19350208,19469031,19530255,19554337,19667985,19765000,19915015,19915484,19933982,20160062,20367200,20368543,20376084,20410924,20421455,20427748,20494930,20508616,20538800,20485375,20692206,20861910,21130701,20142433,20510884,20877624,20880116,20929327,20946881,20962861,21075857,21079611,21080178 3418 NG_023302,CR607742,CR610749,CR610676,CR610921,CR613707,CR615856,CR616318,CR617229,CR617266,CR617370,CR619261,CR619410,CR622745,CR625291,CR625730,CR625817,X69433,NM_002168,AC087284,AC092769,CH471101,AK222916,AK294148,AK299987,AK312627,AK316388,BC009244,BC071828,CR590507,CR593087,CR593589,CR594870,CR595435,CR597564,CR597829,CR598530,CR599159,CR599284,CR600286,CR600938,CR602079,CR602902,CR604829,CR606440,CR606745,CR607058,CR607159,HC895649,HC898572 CAA49208,P48735,Q13584,Q53GL5,ABM83743,ABM87062,NP_002159,EAX02082,EAX02083,BAD96636,BAG57473,BAG61808,BAG35513,BAH14759,AAH09244,AAH71828,CBN62262,CBN63691 Hs.596461 D2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH NADP(+)-specific ICDH|NADP+-specific ICDH|isocitrate dehydrogenase [NADP], mitochondrial|isocitrate dehydrogenase, mitochondrial|oxalosuccinate decarboxylase protein-coding 733177 IDH3A isocitrate dehydrogenase 3 (NAD+) alpha Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq] 2306828,1580863 7755589,8833160,14555658,17432878,16737955,16236267,15489334,14702039,12543931,12488461,12477932,10677231,10601238,9373149,8125298,19615732,20306291,20562859,20877624 2306828 3419 NM_005530,AC090260,CH471136,AK093531,AK222973,AK296002,AK299970,AL110096,AL442090,BC021967,BC036227,CR599067,CR624257,CR749548,U07681,AK315963,AK316051 NP_005521,EAW99181,EAW99182,BAD96693,BAG58776,BAG61796,CAC09449,AAH21967,CAH18348,AAA85639,P50213,Q53GF8,Q68D72,ABM83700,ABM84455,ABM87021,BAH14334,BAH14422 Hs.591110 H-IDH alpha|NAD(+)-specific ICDH subunit alpha|NAD(H)-specific isocitrate dehydrogenase alpha subunit|NAD+-specific ICDH|isocitrate dehydrogenase (NAD+) alpha chain|isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial|isocitric dehydrogenase subunit alpha protein-coding 1349945 IDH3B isocitrate dehydrogenase 3 (NAD+) beta Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 2306828,1580863 10601238,14555658,19498431,18806796,17432878,16737955,16713569,15653693,15489334,14702039,12477932,11780052,20435888,16169070,20877624,10677231,10575215 2306828 3420 NM_174856,NM_006899,NM_174855,NG_012149,AF046929,AL049712,CH471133,AK001905,AK300485,AK309488,AK315641,AL050094,BC001960,BC019037,BX647393,CR611698,CR614771,CR615180,CR615874,CR616056,CR618774 NP_777281,NP_008830,NP_777280,AAF20164,CAC01442,CAC01443,EAX10578,EAX10579,EAX10580,EAX10581,EAX10582,EAX10583,BAA91971,BAG62200,BAG38008,CAB43266,AAH01960,O43837,Q9NUZ0,Q9UIC5,ABM83487,ABM86702,ABM86742,ACE87365,ACE86681 Hs.436405 FLJ11043|H-IDHB|MGC903|RP46 NAD(+)-specific ICDH subunit beta|NAD+-specific ICDH|NAD+-specific isocitrate dehydrogenase b subunit|NAD+-specific isocitrate dehydrogenase beta|isocitrate dehydrogenase [NAD] subunit beta, mitochondrial|isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit|isocitric dehydrogenase subunit beta protein-coding 731354 IDH3G isocitrate dehydrogenase 3 (NAD+) gamma Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq] 1302383,2306828,1580863 9286695,14555658,18029348,17432878,16737955,16381901,15489336,15489334,12477932,11256614,11076863,10677231,10601238,8661155 1302383,2306828 3421 CR626830,U40272,U69268,U69269,Z68907,NM_004135,CH471172,U52111,Z68129,AB209206,BC000933,BC001902,CR590006,CR595957,CR595975,CR599559,CR605410,CR606786,CR608068,CR612798,CR614068,CR615747,CR616395,NM_174869,CR616620 AAD09357,AAB70115,AAB70116,CAA93143,O15384,O15385,P51553,Q59GA3,CAL38011,CAL38125,NP_777358,NP_004126,EAW72793,CAA92214,BAD92443,AAH00933,AAH01902 Hs.410197 H-IDHG IDH-gamma|NAD (H)-specific isocitrate dehydrogenase gamma subunit|NAD(+)-specific ICDH subunit gamma|NAD+-specific ICDH|OTTHUMP00000025984|OTTHUMP00000025987|OTTHUMP00000025988|isocitrate dehydrogenase 3, gamma|isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial|isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, gamma subunit|isocitric dehydrogenase subunit gamma protein-coding 735459 IDI1 isopentenyl-diphosphate delta isomerase 1 IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq] 1300048,1580863,2316857 20877624,8020941,8806705,8188698,18660489,16806233,15489334,14629038,12860252,12477932,9373149,8125298,20955688 2316857 3422 NM_004508,AC022536,AF271724,AF291755,CH471072,AF271720,AK222875,AK303669,AK311110,BC005247,BC006999,BC019227,BC022418,BC025375,BC057827,BC107893,BE891119,BT006761,BX537663,BX648472,CR590015,CR591790,CR596142,CR596871,CR597870,CR600177,CR602134,CR605332,CR613243,CR613434,CR614669,CR620656,CR622955,CR624844,CR625468,CR625705,X17025 NP_004499,AAK49434,AAK29357,EAW86520,EAW86521,AAK49435,BAD96595,BAG64667,AAH05247,AAH06999,AAH19227,AAH22418,AAH25375,AAH57827,AAI07894,AAP35407,CAA34890,Q13907 Hs.727514,Hs.644603 IPP1|IPPI1 IPP isomerase 1|OTTHUMP00000018949|isopentenyl diphosphate dimethylallyl diphosphate isomerase 1|isopentenyl pyrophosphate isomerase 1|isopentenyl-diphosphate Delta-isomerase 1|isopentenyl-diphosphate delta isomerase protein-coding 1317828 IDI2 isopentenyl-diphosphate delta isomerase 2 737633,1580863 16385451,17202134,15489334,14702039,14629038,12477932,8806705,20955688,17207965 737633 91734 NM_033261,AC022536,AF271729,AF291755,CH471072,AF271725,AK056950,BC017778,BC040651 NP_150286,AAK49436,AAK29358,EAW86525,AAK49437,BAB71322,AAH17778,Q9BXS1,ADQ32277 Hs.9270,Hs.591325 IPPI2 IPP isomerase 2|diphosphate dimethylallyl diphosphate isomerase 2|isopentenyl pyrophosphate isomerase 2|isopentenyl-diphosphate Delta-isomerase 2 protein-coding 1346818 IDO1 indoleamine 2,3-dioxygenase 1 Gamma-interferon (IFNG; MIM 147570) has an antiproliferative effect on many tumor cells and inhibits intracellular pathogens such as Toxoplasma and Chlamydia, at least partly because of the induction of indoleamine 2,3-dioxygenase (INDO; EC 1.13.11.52). This enzyme catalyzes the degradation of the essential amino acid L-tryptophan to N-formyl-kynurenine.[supplied by OMIM] 2290313,2290190,1580863 20522587,20570568,21030093,8406467,2109605,16477023,14704851,9712583,19448397,19353519,19306922,19264674,19168733,19155537,19106591,19074858,19058839,19050070,19010841,19004406,18832696,18802343,18776940,18660700,18639339,18622801,18438685,18370410,18332894,18299324,18274832,18205804,18176870,18055547,18045970,18036645,18008147,17951526,17911610,17711549,17674321,17626075,17535808,17433037,17393386,17321596,17318080,17294609,17229698,17202379,17192467,17182891,17170728,17038913,17015408,16842443,16834326,16686756,16513157,16511306,16489067,16421220,16406698,16319139,16176799,16135011,15967116,15950064,15947091,15919929,15711557,15528322,15489334,15374002,15254595,15245429,15102781,15070879,15001472,14969766,14871294,14502282,13678429,12963490,12938169,12766158,12738417,12477932,12471139,12444143,12228717,12186837,11987129,11912287,11876748,11867636,11230514,11180976,8817290,8404046,2848333,2549057,2501398,2482041,2326172,1716396,1449503,17158233,16169070,20648630,20484731,21028817,17605849,19363598,19434461,19465693,19487045,19489917,19514129,19564344,19597340,19604093,19604349,19693771,19695096,19737010,19740345,19783182,19815714,19828629,19829303,19844741,19929471,19933867,20128646,20192952,20201926,20331378,20635895,20689575,17207965,20361220,20663292 2290313,2290190 3620 AC007991,CH471080,AK313259,AY221100,BC027882,CD690354,CR591703,CR613807,CR614485,CR616634,CR621546,M34455,X17668,NM_002164,HI179038 CAA35663,P14902,NP_002155,EAW63270,EAW63271,EAW63272,BAG36069,AAO34405,AAH27882,AAA36081,CBX53828,ADQ31773 Hs.840 CD107B|IDO|INDO IDO-1|indole 2,3-dioxygenase|indoleamine 2,3-dioxygenase 1|indoleamine-pyrrole 2,3 dioxygenase|indoleamine-pyrrole 2,3-dioxygenase protein-coding 1602972 IDO2 indoleamine 2,3-dioxygenase 2 Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM] 21084489,17499941,17671174,17430106,14702039,12477932,19476837,19487973,19799997 169355 NM_194294,AC007991,AC087518,CH471080,AK092502,AK128691,BC031685,BC113496,BC113498,EF052681 NP_919270,EAW63269,BAC87573,AAI13497,AAI13499,ABM69260,Q6ZQW0 Hs.676257 INDOL1 IDO-2|OTTHUMP00000223617|indoleamine 2,3-dioxygenase 2|indoleamine 2,3-dioxygenase-like 1 protein|indoleamine 2,3-dioxygenase-like protein 1|indoleamine-pyrrole 2,3 dioxygenase-like 1|indoleamine-pyrrole 2,3-dioxygenase-like protein 1 protein-coding 1351665 IDS iduronate 2-sulfatase Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked Mucopolysaccharidosis Type II, also known as Hunter Syndrome. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. A splice variant of this gene has been described. [provided by RefSeq] 1599819,1580863 19913121,20628086,3104200,2122463,18546295,17657858,17655837,17616540,17284421,17091340,17063374,16735228,16699754,16617305,16480701,16133661,15909065,15772651,15614569,15500445,15146464,14702039,12794697,12655569,12477932,11731225,11683780,11462244,11256614,11015461,10838181,10737977,10671065,10447264,10220152,10215411,9950361,9921913,9875019,9762601,9660053,9501270,9375851,9337875,9266380,9222763,9147653,8940265,8830188,8717057,8664909,8566953,8530090,8528670,8490623,8364592,8318991,8281149,8244397,8111411,7981716,7887413,7866405,7728156,7599640,7581397,6418082,2222422,1906048,1901826,1639384,1550586,1355630,1303211,1284597,16344560,19602578,19933090,20125193,20104590 1599819 3423 NM_000202,NM_006123,NG_011900,AC233288,AF011889,CH471171,L04586,L13321,L13329,L38660,AF050145,AK055600,AK057191,AK294541,AK295815,AL117536,BC006170,BX647357,CR625022,DB500211,EF363095,L40586,M58342,AI242974,DA325538,NM_001166550,HH961810 NP_000193,NP_006114,AAC77828,EAW61280,EAW61281,EAW61282,EAW61283,EAW61284,EAW61285,AAA59192,AAA16877,AAB64180,AAC05984,BAG57748,BAG58633,AAH06170,AAA92014,AAA63197,O60597,P22304,Q14603,NP_001160022,CBX51378 Hs.460960 MPS2|SIDS OTTHUMP00000216438|alpha-L-iduronate sulfate sulfatase|iduronate 2-sulfatase|iduronate 2-sulfatase 14 kDa chain|iduronate 2-sulfatase 42 kDa chain|idursulfase protein-coding 1347874 IDSP1 iduronate 2-sulfatase pseudogene 1 7814022,7633410 3424 NG_001149,AC233288,AF011889,L36846 IDS2 pseudo 1322129 IDUA iduronidase, alpha-L- This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq] 1580863,1599894 2470345,19396826,18340403,17570076,16435195,16344560,16169070,15862278,15521993,15300847,12818523,12559846,12477932,11861306,11825626,11735025,11555618,10738517,10735634,10466419,9391892,8680403,8664897,8554071,8477267,8401515,8328452,8242073,8213840,8019563,7951228,7550242,7550232,6821579,4221470,2220820,2170400,1946389,1883197,1832239,1550122,1505961,1362562,1301941,19751987,19839758 1599894 3425 BC099922,CD367032,DA057148,M74715,NM_000203,NG_008103,AC019103,CH471131,M95740,AB208901,AK098805,AK125223,AK291816,BC029959 AAA81589,P35475,Q56A80,Q59H58,NP_000194,EAW82616,EAW82617,EAW82618,EAW82619,EAW82620,EAW82621,EAW82622,EAW82623,EAW82624,EAW82625,EAW82626,EAW82627,AAA51698,BAD92138,BAG54168,BAF84505,AAH29959 Hs.89560 IDA|MPS1 OTTHUMP00000217309|alpha-L-iduronidase protein-coding 1343257 IER2 immediate early response 2 737633 19584537,15489334,12477932,2061303 737633 9592 NM_004907,AC011446,CH471106,BC003625,BC072432,BC110647,BT019466,CR450352,CR592233,CR593038,CR595420,CR595783,CR595984,CR596913,CR596965,CR597130,CR601806,CR602141,CR602346,CR603024,CR603448,CR606790,CR606860,CR606997,CR607279,CR607809,CR608502,CR608672,CR610628,CR613150,CR613699,CR614886,CR619168,CR620054,CR621121,CR622473,CR625470,CR625552,CR625573,M62831 NP_004898,EAW84358,EAW84359,EAW84360,AAH03625,AAH72432,AAI10648,AAV38273,CAG29348,AAA35814,Q9BTL4,ABM83218,ABM86418 Hs.501629 ETR101|MGC111472|MGC15265 immediate early response gene 2 protein protein-coding 1347080 IER3 immediate early response 3 This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq] 1580863 15451437,9196025,9703517,19285955,19152102,8125298,18482256,20713914,18564103,8603392,18026799,17704804,16973576,16960879,16567805,16344560,15855159,15781630,15767410,15489334,15120418,12761504,12743274,12682234,12510147,12477932,12356731,12032839,11910304,11844788,11782530,11455449,10448082,9878538,9791001,9781666,9588170,9373149,8653710,20587610,16456541,19690192,19773435,19837266,19851445 8870 BC000844,BC005080,BM915952,BT006703,CR594838,CR594999,CR599121,CR599601,CR605389,CR613281,CR625889,DA893782,S81914,Y14551,AK314162,NM_003897,AB088101,AB202099,AF071596,AL662797,AL662848,AL845353,BA000025,BX248307,CH471081,CR936878,CT009501,X96438,Y16736,AF039067,AF083421,AK222588 BAG36846,AAH00844,AAH05080,AAP35349,AAB36278,CAA74886,O75353,P46695,Q53HJ2,Q5ST77,Q5ST79,Q6LAI3,NP_003888,BAC54933,BAE78619,AAC72344,CAI18208,CAI18210,CAI17444,CAI17446,CAI41897,CAI41899,BAB63319,CAM25943,CAM25944,EAX03329,EAX03330,EAX03331,CAQ06828,CAQ06829,CAQ10470,CAQ10471,CAA65304,CAA76350,AAC32558,AAC33793,BAD96308 Hs.591785 DIF-2|DIF2|GLY96|IEX-1|IEX-1L|IEX1|PRG1 PACAP-responsive gene 1 protein|anti-death protein|differentiation-dependent gene 2 protein|expressed in pancreatic carcinoma|gly96, mouse, homolog of|immediate early protein GLY96|immediate early response 3 protein|immediately early gene X-1|protein DIF-2|radiation-inducible immediate-early gene IEX-1 protein-coding 1352833 IER3IP1 immediate early response 3 interacting protein 1 1580863 18029348,16341674,15489334,15276200,12477932,11256614,11230166,11042152,10931946,18476594,19885854 51124 NM_016097,AC051635,CH471096,AF119875,AF125100,AF164798,AF371963,AK027108,AL136667,BC010888,BC017391,BM829309,CR533488,CR596209,CR596950,CR599998,CR614259 NP_057181,EAW62909,AAF69629,AAD39917,AAF80762,AAK53816,CAB66602,AAH10888,AAH17391,CAG38519,Q9P171,Q9Y5U9,ABM83792,ABM87114,ACE87253,ACE86570 Hs.130917 HSPC039|PRO2309 immediate early response 3-interacting protein 1 protein-coding 737469 IER5 immediate early response 5 This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq] 19238419,16710414,15498874,15489334,12477932,11102586,10049588,8889549 51278 AL356267,CH471067,AA235294,AF178984,AF258581,AI696140,AJ251089,BC000128,BC108253,CR591624,CR611489,CR618453,CR622335,NM_016545 NP_057629,CAH72306,EAW91099,AAF44348,AAG23784,CAB91983,AAH00128,AAI08254,Q32P56,Q5VY09 Hs.15725 MGC102760|SBBI48 immediate early response gene 5 protein protein-coding 1349464 IER5L immediate early response 5-like 15146197,12477932,8889548,16341674 389792 NM_203434,AL158151,CH471090,BC013070,BC064028,BM763373,BQ574938,BU676697,BX458317,CN293040,CR610382,CR620204 NP_982258,CAI12875,EAW87886,AAH64028,Q5T953 Hs.529857 MGC70833|bA247A12.2 immediate early response gene 5-like protein protein-coding 1603680 IFFO1 intermediate filament family orphan 1 This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Alternative splicing has been observed for this gene and three transcript variants encoding different isoforms have been identified. Other alternatively spliced transcripts may exist, but their biological validity has not been confirmed. [provided by RefSeq] 16344560,17207965,16713569,16189514,14702039,12477932,8771189,3052284 25900 AI423929,AL548672,DA268043,DA744744,DA969856,NM_001193457,NR_036467,NM_001039670,AC006064,CH471116,AF124432,AI969315,AK000710,AK095106,AK298905,AL080214,AW075280,BC001790,BC002857,BC004384,BC010431,BC023664,BC063004,BC071170,BC103817,NM_080730,BC103819,BC110387,BC113848,BC114454,BM922290,BX327856,BX648701,BX648743,CR616146,AA251428,BM147696,BC103818 NP_001180386,ADQ32404,NP_542768,NP_001034759,EAW88781,EAW88782,EAW88783,EAW88784,EAW88785,BAA91335,BAG52986,BAG61013,CAB45778,AAH02857,AAH04384,AAH63004,AAH71170,AAI03818,AAI03819,AAI10388,AAI13849,AAI14455,CAH56164,CAH56183,Q0D2I5,Q63HK6,Q6P593,Q9NWP4,Q9Y4M3 Hs.15243 DKFZp586I2223|FLJ20703|HOM-TES-103|IFFO|MGC117359 HOM-TES-103 tumor antigen-like|OTTHUMP00000180568|OTTHUMP00000180570|intermediate filament family orphan 1|intermediate filament-like MGC:2625|tumor antigen HOM-TES-103 protein-coding 2301100 IFFO2 intermediate filament family orphan 2 14702039,12477932 126917 NM_001136265,AL080251,CH471134,AK024480,BC063709 NP_001129737,CAI23419,CAI23420,EAW94862,BAB15770,Q5TF57,Q5TF58 Hs.466625 OTTHUMP00000002592|OTTHUMP00000002593|intermediate filament family orphan 2 protein-coding 1344171 IFI16 interferon, gamma-inducible protein 16 This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. [provided by RefSeq] 1580863 20628624,20595294,17981541,17699163,17510972,17339605,16964243,16710414,16494870,16344560,15728246,15572361,15569046,15489334,15302935,17981573,14990579,14729471,17981542,14702039,12925527,12894224,12682910,12539042,12477932,12184920,11146555,11115400,9718316,7959953,7806273,1526658,20214740,11940648,12513910,19170058,19553003,19635103,19885868,20052289,20379614,7890747,8910340,7536752,14654789,9642285,9766636,18029348,19338980,18974396,18598717,18472023,18231640,17981596,20504932,20890285 3428 NM_005531,AL359753,CH471121,S75415,S75433,AB208989,AF086545,AF208043,AK094968,AK296228,AK307957,AY138863,BC017059,BM993134,CR603557,CR620182,CR621058,DA990524,M63838 NP_005522,CAI15081,CAI15082,CAI15083,CAI15084,CAI15085,CAI15086,EAW52797,EAW52798,EAW52799,EAW52800,EAW52801,EAW52802,EAW52803,AAB32519,BAD92226,AAF20997,BAC04462,BAG58950,AAM96005,AAH17059,AAA58683,Q16666,ABM81988,ABM85168 Hs.380250 IFNGIP1|MGC9466|PYHIN2 OTTHUMP00000035197|gamma-interferon-inducible protein 16|ifi-16|interferon-gamma induced protein IFI 16|interferon-inducible myeloid differentiation transcriptional activator protein-coding 1351661 IFI27 interferon, alpha-inducible protein 27 1580863 17166282,16381901,15489336,15489334,15063762,15014966,14728724,14719078,14702039,12878323,12539042,12477932,11722583,11375929,11256614,11230166,11076863,9837900,8358738,18953482,18361427,18330707,18329281,18814951,19558503,19817957,20237496 3429 NM_005532,NM_001130080,AL079302,AL121838,CH471061,AI799552,AJ294851,AK095039,AK097084,AK289535,AK312089,AU103232,AY126456,AY126457,AY126458,BC015492,BN000227,BT006781,BU601451,BX647330,CB993374,X67325 NP_005523,NP_001123552,EAW81556,EAW81557,EAW81558,CAC10503,BAF82224,BAG35025,AAM95743,AAM95744,AAM95745,AAH15492,CAE00394,AAP35427,CAA47739,P40305,Q7Z5R0,Q7Z5R1,Q7Z5R2,Q9H4B1,CAL37985,CAL38654,ABM84742 Hs.532634 FAM14D|ISG12|ISG12A|P27 2310061N23Rik|ISG12(a)|interferon alpha-induced 11.5 kDa protein|interferon alpha-inducible protein 27|interferon alpha-inducible protein 27, mitochondrial|interferon-stimulated gene 12a protein protein-coding 1347783 IFI27L1 interferon, alpha-inducible protein 27-like 1 1580863 16344560,15489334,15014966,14728724,12477932,8889548,19260139,20237496 122509 NM_206949,NM_145249,AL079302,CH471061,BC015423,BN000225,BU739372,CR625015,DA693965 NP_996832,NP_660292,EAW81553,EAW81554,EAW81555,AAH15423,CAE00392,Q96BM0,ACT64524,ACT64525 Hs.19414 FAM14B|ISG12C ISG12(c) protein|family with sequence similarity 14, member B|interferon alpha-inducible protein 27-like protein 1|interferon-stimulated gene 12c protein protein-coding 1344421 IFI27L2 interferon, alpha-inducible protein 27-like 2 1580863 14728724,15489334,15014966,12477932 83982 NM_032036,AL121838,CH471061,AF208232,AF238978,BC022800,BC032626,BE737110,BN000226 NP_114425,EAW81559,EAW81560,AAG35730,AAF65760,AAH22800,AAH32626,CAE00393,Q9H2X8 Hs.94695 FAM14A|ISG12B|MGC44913|TLH29 ISG12(b) protein|family with sequence similarity 14, member A|interferon alpha-inducible protein 27-like protein 2|interferon-stimulated gene 12b protein|pIFI27-like protein protein-coding 1321848 IFI30 interferon, gamma-inducible protein 30 The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq] 1580863 20668223,3136170,19240061,18410276,18343923,12477932,12198183,12021307,11491538,10852914,10639150,1069150,16170,18029348 10437 NM_006332,AC007192,AC068499,AC093080,CH471106,AB049659,AF401212,AK123477,AK291551,BC021136,BC031020,BE515053,CR604887,CR611745,CR617281,CR622428,CR622693,DQ884410 NP_006323,AAD22672,EAW84661,EAW84662,EAW84663,EAW84664,EAW84665,EAW84666,BAC98466,AAL02170,BAF84240,AAH21136,AAH31020,ABI63377,P13284,Q76MF9,Q8NEI4,Q8WU77,Q96P99,Q9UPH8,ABM82942,ABM86132 Hs.14623 GILT|IFI-30|IP30|MGC32056 gamma-interferon-inducible lysosomal thiol reductase|gamma-interferon-inducible protein IP-30|interferon gamma-inducible protein 30 preproprotein protein-coding 1312056 IFI35 interferon-induced protein 35 1580863 20628624,8954125,8288566,18305040,17197158,16341674,15489334,12665801,12539042,12477932,11911807,10950963,10779520,8938427,7753812,18624398 3430 AA740882,AA832092,BU571030,NM_005533,AC055866,CH471152,L78833,AA827287,AK025406,BC001356,BM050205,BM748764,U72882 NP_005524,EAW60914,EAW60915,EAW60916,AAC37597,AAH01356,AAB61703,P80217,ABM83524,ABM86752 Hs.632258 FLJ21753|IFP35 IFP 35|ifi-35|interferon-induced 35 kDa protein protein-coding 1350219 IFI4 interferon-induced protein 4 3175763 3427 1321473 IFI44 interferon-induced protein 44 1580863 18953482,17784819,16886895,15489334,12539042,12477932,7925411,20237496,18029348,17207965 10561 NM_006417,AC104837,CH471059,D28915,AK302527,AK316476,BC022870,CA426666,CR621445,DC300799,DN994910 NP_006408,EAX06347,EAX06348,BAA06043,BAG63800,BAH14847,AAH22870,Q8TCB0,ADQ32248 Hs.82316 MTAP44|p44 interferon-induced protein 44|interferon-induced, hepatitis C-associated microtubular aggregate protein (44kD)|microtubule-associated protein 44 protein-coding 1352700 IFI44L interferon-induced protein 44-like 20237496,8125298,16344560,12477932,9373149 10964 AC104837,CH471059,AB000115,AB116553,AK223087,AK225442,AK293385,AK303187,AK312272,AK316232,AL832618,AW015958,BC015932,DA699730,NM_006820 EAX06349,BAA19056,BAF51962,BAD96807,BAG56895,BAG64281,BAG35202,BAH14603,CAD90004,AAH15932,Q53G44,NP_006811 Hs.724492 C1orf29|GS3686 interferon-induced protein 44-like protein-coding 1342870 IFI6 interferon, alpha-inducible protein 6 This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq] 1580863 20628624,17823654,18838000,20237496,20377629,1303280,15502823,15685448,3017706,18029348,15489334,14728724,12477932,7596809,6548414,3359997,1713665,1695131 2537 NM_022873,NM_022872,NM_002038,AJ426287,AL445490,CH471059,CQ834276,U22970,AF430686,AK024814,AK314488,BC011601,BC015603,BN000257,BT006850,X02492 NP_075011,NP_075010,NP_002029,CAD19977,CAH72020,CAH72021,CAH72022,EAX07744,EAX07745,EAX07746,CAH05353,AAC50159,AAC50160,AAC50161,AAL26623,BAG37089,AAH11601,AAH15603,CAE12275,AAP35496,CAA26322,P09912,Q5VVR2,Q6IE95 Hs.382212,Hs.523847 6-16|FAM14C|G1P3|IFI-6-16|IFI616 interferon alpha-inducible protein 6|interferon, alpha-inducible protein clone IFI-6-16|interferon-induced protein 6-16 protein-coding 1347526 IFIH1 interferon induced with helicase C domain 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon (IFNB) and a protein kinase C-activating compound, mezerein (MEZ). Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. [provided by RefSeq] 1580863 19913121,20595247,20628086,20647273,20668468,20694011,19620789,19539001,19531363,19403670,19324880,19264985,19211564,19164550,19156166,19154402,19073967,19016379,18927125,18684960,18285833,18071670,18026693,17554260,17541283,17535987,17442111,17267501,16797201,16782388,16699517,16575407,16177806,16127453,16116171,15563593,15489334,14702039,14676839,14645903,19380577,19430480,19565506,19615405,19742420,19797678,19838195,19841890,19846522,19881509,19890046,19951419,19961590,20033399,20116863,20203524,20467774,20644636,19450885,12477932,12015121,11805321,20538742,18029348,20953190,20719949,20739519,11002417 64135 NM_022168,NG_011495,AC007750,AC010876,CH471058,AF095844,AK056293,AK292941,AK314611,AY017378,BC007966,BC046208,BC078180,BC111750,BU902097 NP_071451,AAY24206,AAX93137,EAX11352,AAG34368,BAB71141,BAF85630,AAG54076,AAH46208,AAH78180,AAI11751,Q53TB6,Q53TP4,Q9BYX4 Hs.163173 Hlcd|IDDM19|MDA-5|MDA5|MGC133047 CADM-140 autoantigen|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide|RNA helicase-DEAD box protein 116|clinically amyopathic dermatomyositis autoantigen 140 kDa|helicard|helicase with 2 CARD domains|interferon-induced helicase C domain-containing protein 1|interferon-induced with helicase C domain protein 1|melanoma differentiation associated protein-5|melanoma differentiation-associated protein 5|murabutide down-regulated protein protein-coding 1312562 IFIT1 interferon-induced protein with tetratricopeptide repeats 1 1580863 20628624,3753936,19008854,16973618,16344560,16189514,15489334,14702039,12708317,12477932,11152506,11118224,10662616,10644362,9826176,6186990,3585080,3360121,3175763,3121313,1377167,16385451,19416887 3434 CR623965,DA822484,X03557,NM_001548,AL353146,CH471066,X06559,AK092813,AK308688,AK314588,AL548182,AL711085,BC007091,BT006667,CA306581,CD106320,CR591778,CR593386,CR601585,CR617896,CR621649 CAA27244,P09914,Q5T7J1,ABM84460,ABM84681,NP_001539,CAI12379,EAW50136,EAW50137,EAW50138,CAA29802,BAG52612,BAG37163,AAH07091,AAP35313 Hs.20315 C56|G10P1|GARG-16|IFI-56|IFI-56K|IFI56|IFIT-1|IFNAI1|ISG56|RNM561 Interferon, alpha-inducible protein (MW 56kD)|interferon-induced 56 kDa protein|interferon-induced protein 56|interferon-induced protein with tetratricopeptide repeats 1 protein-coding 1344579 IFIT1L interferon-induced protein with tetratricopeptide repeats 1-like 3175763,12477932 439996 NM_001010987,AL353751,CH471066,BC137368,BC137369,BC150189,BX647300 NP_001010987,CAI12242,EAW50139,AAI37369,AAI37370,AAI50190,Q5T764 Hs.500491 DKFZp781M1841|IFIT1L|bA149I23.6 interferon-induced protein with tetratricopeptide repeats 1-like protein|interferon-induced protein with tetratricopeptide repeats 1B protein-coding 1342851 IFIT1P interferon-induced protein with tetratricopeptide repeats 1, pseudogene 10978293,3175763 8373 NG_001215,AF196987,AL445212 G13P1|IFI56P|IFIT1P|II56P pseudo 1317209 IFIT2 interferon-induced protein with tetratricopeptide repeats 2 1580863 3175763,3119591,2454816,1377167,16189514,18029348,17081983,17030862,16973618,16344560,12708317,12477932,9391139,8889549,3466167,3360121,16385451,18819931,19416887 3433 NM_001547,AL353751,CH471066,M14659,M14660,X07557,AA143609,AA765174,AK300431,AK312831,BC005987,BC032839,DA631671,EB387611 NP_001538,CAI12238,EAW50145,AAA59191,CAA30438,BAG62157,AAH05987,AAH32839,P09913,Q05DN2,Q8IZ03 Hs.437609 G10P2|GARG-39|IFI-54|IFI-54K|IFI54|IFIT-2|ISG-54 K|ISG-54K|ISG54|cig42 Interferon, alpha-inducible protein (MW 54kD)|interferon-induced 54 kDa protein|interferon-induced protein 54|interferon-induced protein with tetratricopeptide repeats 2 protein-coding 1353716 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 1580863 20533260,18706081,17933493,16964243,16344560,16341674,16189514,15489334,12539042,12477932,9828129,9391139,9207104,14499622,16385451,19351818,16449650,20686046 3437 NM_001031683,AL353751,CH471066,AF026939,AF083470,AK290427,AK297137,AK312675,BC001383,BC004977,BM790031,BT007284,BX101054,CR618361,CR626380,DA081546,DB268497,U52513,NM_001549 O14879,Q5T765,NP_001540,NP_001026853,CAI12239,CAI12240,EAW50143,EAW50144,AAB95160,AAC63524,BAF83116,BAG59639,AAH01383,AAH04977,AAP35948,AAB40606 Hs.703668 CIG-49|GARG-49|IFI60|IFIT4|IRG2|ISG60|RIG-G CIG49|IFI-60K|IFIT-3|IFIT-4|ISG-60|interferon-induced 60 kDa protein|interferon-induced protein with tetratricopeptide repeats 3|interferon-induced protein with tetratricopeptide repeats 4|retinoic acid-induced gene G protein protein-coding 1348146 IFIT5 interferon-induced protein with tetratricopeptide repeats 5 1580863 15489334,12477932,9398535,16169070,16385451,19615732 24138 NM_012420,AL353146,CH471066,BC025786,CR457031,CR624828,U34605,AK293346,AK312358,DC392439 NP_036552,CAI12381,EAW50135,AAH25786,CAG33312,AAA84934,Q13325,Q6IAX3,BAG35276,BAG56862 Hs.252839 FLJ53857|FLJ92678|RI58 IFIT-5|interferon-induced protein with tetratricopeptide repeats 5|retinoic acid- and interferon-inducible 58 kDa protein|retinoic acid- and interferon-inducible protein (58kD) protein-coding 3476341 IFIT6P interferon-induced protein with tetratricopeptide repeats 6, pseudogene 100128465 AL353751,NG_022187 pseudo 1316889 IFITM1 interferon induced transmembrane protein 1 (9-27) 1580863 14667819,7559564,18202764,15808405,15661263,15489334,12926988,12477932,7680491,6548414,3935435,2492664,2398277,1383329,18829488,19304549,19499152,20064371,20099975,20331378,20428811,20628624 8519 AAB25699 NM_003641,AC136475,CH471278,AK290480,BC000897,BT007173,J04164,X84958 NP_003632,EAW61218,EAW61219,BAF83169,AAH00897,AAP35837,AAA35494,CAA59337,AAB25699,P13164,Q53XZ0,ABM82020,ABM85202 Hs.458414 9-27|CD225|IFI17|LEU13 interferon-induced protein 17|interferon-induced transmembrane protein 1|interferon-inducible protein 9-27|leu-13 antigen protein-coding 1352409 IFITM2 interferon induced transmembrane protein 2 (1-8D) 1580863 20628624,20534863,6548414,15231747,1906403,15489334,12477932,3935435,16169070,19544527 10581 AC136475,CH471278,CS300517,BC009696,BG164993,BG257141,BT009859,CR456894,CR541874,CR604902,X02490,X57351,NM_006435 ABM85541,NP_006426,EAW61220,EAW61221,CAK32181,AAH09696,AAP88861,CAG33175,CAG46672,CAA26321,CAA40625,Q01629,Q14617,Q6FH82,Q6IBB0,ABM82593 Hs.709321 1-8D interferon-induced transmembrane protein 2|interferon-inducible protein 1-8D protein-coding 1343642 IFITM3 interferon induced transmembrane protein 3 (1-8U) 1580863 1906403,18029348,11256614,18470904,18177740,16381901,16344560,16326387,15489336,15489334,12477932,11076863,10950117,19901966,19946179,20534863 10410 NM_021034,AC136475,CH891444,AI355192,AK292173,BC006794,BC008417,BC022439,BC070243,BT006892,CR611877,DB261103,X57352 NP_066362,EAW50866,BAF84862,AAH06794,AAH08417,AAH22439,AAH70243,AAP35538,CAA40626,Q01628,Q53Y76,CAL37601,CAL38570,ABM82024,ABM85206 Hs.374650 1-8U|IP15 interferon-induced transmembrane protein 3|interferon-inducible protein 1-8U protein-coding 1602166 IFITM4P interferon induced transmembrane protein 4 pseudogene 16344560 340198 DB311150,AL844851,BX005428,BX927182,CR759769,CR788234,NR_001590,AL022723,AL645939,AL669813 Hs.450189 dJ377H14.5 pseudo 1606092 IFITM5 interferon induced transmembrane protein 5 18442316,12659663,11106657,12477932 387733 NM_001025295,AC136475,CH471278,BC150562,BC150563 NP_001020466,EAW61222,AAI50563,AAI50564,A6NNB3,AAI56101,AAI56993 Hs.443469 BRIL|Hrmp1|fragilis4 bone-restricted interferon induced transmembrane protein-like protein|bone-restricted interferon-induced transmembrane protein-like protein|interferon-induced transmembrane protein 5 protein-coding 1604413 IFITM8P interferon induced transmembrane protein 8 pseudogene 15869325 613204 NG_005307,AC011124,DQ031534 pseudo 2289755 IFITM9P interferon induced transmembrane protein 9 pseudogene 390218 NG_006210,AP005232 pseudo 1602644 IFLTD1 intermediate filament tail domain containing 1 16344560,15688036,14702039,12477932 160492 NM_152590,NM_001145728,NR_027296,NM_001145727,NM_001145729,AC022367,CH471094,AK296816,AK093323,AK302292,AK310411,BC037957,DB029156,DB039294,DB054364,DW009862 NP_689803,NP_001139200,NP_001139199,NP_001139201,EAW96516,EAW96517,BAC04132,EAW96518,BAG59389,BAG63632,AAH37957,Q8N9Z9 Hs.44647 FLJ36004|Pas1c1 intermediate filament tail domain-containing protein 1 protein-coding 1345385 IFN1@ interferon, type 1, cluster 3438 1354356 IFNA1 interferon, alpha 1 Leukocyte interferon is produced predominantly by B lymphocytes. Immune interferon (IFN-gamma; MIM 147570) is produced by mitogen- or antigen-stimulated T lymphocytes.[supplied by OMIM] 1580863 19913121,20465564,20554782,20565368,20574843,20588308,20592282,20628086,18606657,18576315,18405996,18318750,18311820,18283629,18272764,18218993,18184042,18071879,18050196,17968926,17968925,17956986,17933493,17911607,17785816,17703412,17597478,17572490,17517919,16948893,16859998,16797201,16785534,16426578,16253303,16175599,16005433,15989801,15941912,15883164,15795269,15790787,15699120,15674657,15634924,15621727,15585849,15571260,15489334,15240148,15233997,15188363,15164053,15087447,15056668,14734746,14500632,12967644,12817009,12804771,12761564,12759354,12749388,12682235,12620797,12581491,12543882,12538683,12530117,12477932,12435568,12410802,12393722,12323007,12242445,12162875,12097384,12091360,12070711,11991671,11986939,11744801,11315919,11032395,9520456,9425112,9271440,9181467,8668211,8454630,7932753,7532202,6479148,6310510,6163083,6159536,6157600,6157095,4057246,3262520,2985969,2014240,1849076,1708818,1385305,9343822,9865497,7913356,17180012,16278001,15481145,8345204,7904170,7526537,1381203,8661419,7583919,1905933,2552026,16160188,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16418394,8438572,16375755,20980519,20817881,18708672,19401392,19651532,19657094,19754307,19796531,19796549,19817985,19857525,20018632,20112359,20149251,20164424,20174557,20237496,20299058,20303780,20331378,20503287,20860222,20959405,19434718,19339987,19258923,19158240,19124763,19095736,19050236,19000144,18926293,18771758,18633131,20506305,20810735,20964804,20182777,20473322 3439 NM_024013,AF439447,AL353732,CH471071,CQ847555,DQ185447,J00210,M29884,BC074928,BC074929,BC112002,BC112300,BC112302,V00537,V00538,E00175 NP_076918,AAL35223,CAH72911,EAW58609,CAH18030,ABA03167,AAB59403,AAA52714,AAH74928,AAH74929,AAI12003,AAI12301,AAI12303,CAA23798,CAA23799,P01562,ADR83489 Hs.37026 IFL|IFN|IFN-ALPHA|IFN-alphaD|IFNA13|IFNA@|MGC138207|MGC138505|MGC138507 IFN-alpha 1b|IFN-alpha-1/13|interferon alpha 1b|interferon alpha-1/13|interferon alpha-D|leIF D protein-coding 1348367 IFNA10 interferon, alpha 10 1580863 20574843,20588308,20722470,20331378,4057246,2526839,1385305,8605876,15489334,12477932,9425112,8668211,6397400,6181262,6163083,11694501 3446 NM_002171,AL512606,CH471071,M10200,V00531,X02961,BC069409,BC103972,BC103973,V00551 NP_002162,CAH71191,EAW58619,AAH69409,AAI03973,AAI03974,CAA23812,P01566 Hs.282275 IFN-alphaC|MGC119878|MGC119879 IFN-alpha-10|interferon alpha-10|interferon alpha-6L|interferon alpha-C|leIF C protein-coding 1352734 IFNA13 interferon, alpha 13 1580863 17207965,11694501,4057246,15489334,15233997,15164053,12477932,11032395,9425112,8668211,6479148,6310510,6163083,6159536,6157600,6157095,2985969,1385305,1371992,17703412,19258923,20237496,20503287,7510216,20588308 3447 NM_006900,AL353732,CH471071,X00803,X75934,BC069427,BC093988 ADQ32903,NP_008831,CAH72904,EAW58612,CAA25381,CAA53538,AAH69427,AAH93988,P01562 Hs.533471 IFNA1 IFN-alpha-1/13|interferon alpha-1/13|interferon alpha-D|leIF D protein-coding 1348999 IFNA14 interferon, alpha 14 1580863 20574843,20588308,20331378,20503287,15489334,12477932,9425112,8910771,8668211,6165082,4057246,1602151,1385305,1371992,6163083,19258923,17703412,11694501,7510216 3448 NM_002172,AL162420,CH471071,V00533,X02959,BC074956,BC104159,BC104160,V00542 NP_002163,CAH73187,EAW58616,CAA23794,CAA26705,AAH74956,AAI04160,AAI04161,CAA23803,P01570 Hs.93907 IFN-alphaH|LEIF2H|MGC125756|MGC125757 IFN-alpha-14|interferon alpha-14|interferon alpha-H|interferon lambda-2-H|leIF H protein-coding 1352583 IFNA16 interferon, alpha 16 1580863 6548765,6397400,6387705,4057246,1385305,1371992,9343822,9865497,7913356,8661419,17180012,16278001,15481145,8345204,7904170,7526537,1381203,7583919,1905933,2552026,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16418394,8438572,16160188,11694501,7510216,20574843,20588308 3449 NM_002173,AL512606,CH471071,K02055,M10201,X02957,M28585,X00140 NP_002164,CAH71193,EAW58618,AAA52727,AAA52732,CAA26703,AAA36042,CAA24970,P05015,Q14618,Q9UMJ2,AAI40291,AAI46501 Hs.56303 IFN-alphaO IFN-alpha-16|IFN-alpha-N-protein|interferon alpha-16|interferon alpha-WA protein-coding 1354164 IFNA17 interferon, alpha 17 1580863 20574843,20588308,20722470,20331378,7510216,3891272,18539711,17956450,15004750,12490311,12477932,9712362,9425112,8668211,6397400,6165082,4008999,3767336,1634550,1385305,1371992,11694501 3451 NM_021268,AL162420,CH471071,V00532,BC096732,BC098355,M11026,M38289,M71246 NP_067091,CAH73185,EAW58617,CAA23793,AAH96732,AAH98355,AAA52725,AAA59165,AAA52713,P01571 Hs.282276 IFN-alphaI|IFNA|INFA|LEIF2C1 IFN-alpha-17|interferon alpha-17|interferon alpha-88|interferon alpha-I'|interferon alpha-T|interferon alpha-WA|leIF I protein-coding 1350795 IFNA2 interferon, alpha 2 1580863 20574843,20588308,9108403,8764000,7815507,7511078,16418394,8438572,7759950,19345260,19564411,19621225,19790049,20159042,20237496,20331378,20503287,20532927,8366289,8234245,7627809,6310510,6170983,6164056,6163083,6162107,6159538,6159537,3906813,2049076,1834641,1385305,9343822,9865497,7913356,17180012,16278001,8994971,15481145,8345204,7904170,8668211,7526537,1381203,7583919,1905933,2552026,8661419,16160188,12089333,9658081,9225992,6158094,10477584,19574459,19258923,19153447,19055755,19000144,18937499,18729739,18584346,18032529,18027911,18005734,17880940,17703412,17477817,17181634,17116765,16920161,16697656,16171819,15233997,15004750,12477932,12010658,11888273,10339405,9694076,9425112,9417943,11694501 3440 AL353732,AY532915,CH471071,J00207,M28028,M29883,S64979,S64991,S64994,Y11834,AY255838,BC074936,BC074937,BC104163,BC104164,CR541921,M54886,V00544,V00548,V00549,NM_000605 Q9UMA4,NP_000596,CAH72906,AAS92248,EAW58611,AAB59402,AAA36119,AAA52715,AAD13960,AAD13961,AAD13962,CAA72532,AAP20099,AAH74936,AAH74937,AAI04164,AAI04165,CAG46719,AAA59181,CAA23805,CAA23809,CAA23810,P01563,Q14645,Q16054,Q16055,Q6DJX8,Q6QNB6,Q86UP4 Hs.211575 IFN-alphaA|IFNA|INFA2|MGC125764|MGC125765 IFN-alpha-2|alpha-2a interferon|interferon alpha 2b|interferon alpha A|interferon alpha-2|interferon alpha-A|leIF A protein-coding 1344688 IFNA21 interferon, alpha 21 1580863 20574843,20588308,20677014,20237496,20331378,6163083,15489334,12477932,9425112,9027905,8910771,8668211,6548765,1385305,11694501,7510216 3452 NM_002175,AL390882,CH471071,BC069329,BC069372,BC069408,BC096699,BC101638,BC101640,M12350,M28586,V00540,X00145 NP_002166,CAH70157,EAW58623,AAH69329,AAH69372,AAH69408,AAH96699,AAI01639,AAI01641,AAA52718,AAA36041,CAA23801,CAA24980,P01568 Hs.113211 IFN-alphaI|MGC126687|MGC126689 IFN-alpha-21|interferon alpha-21|interferon alpha-F|leIF F|leukocyte interferon protein protein-coding 1314896 IFNA4 interferon, alpha 4 1580863 20588308,3891272,15489334,15164053,15163721,12477932,9425112,9335434,8668211,6089830,4057246,1385305,20237496,11694501,7510216 3441 NM_021068,AL512606,CH471071,CS054853,X02955,BC074965,BC074966,BC113640,BC113642,M27318 NP_066546,CAH71188,EAW58621,CAI75147,CAA26701,AAH74965,AAH74966,AAI13641,AAI13643,AAA52726,P05014,ADR82856,ADR83497 Hs.1510 IFN-alpha4a|INFA4|MGC142200 IFN-alpha-4|interferon alpha-4|interferon alpha-4B|interferon alpha-76|interferon alpha-M1 protein-coding 1352508 IFNA5 interferon, alpha 5 1580863 20574843,20588308,20237496,20331378,20503287,11694501,6163083,19258923,19000144,18953482,17703412,15489334,15340161,15164053,12477932,10395669,8668211,4057246,1385305,7510216 3442 NM_002169,AL162420,CH471071,X02956,BC093755,BC093757,V00541 NP_002160,CAH73189,EAW58615,CAA26702,AAH93755,AAH93757,CAA23802,P01569 Hs.37113 IFN-alphaG|INFA5 IFN-alpha-5|interferon alpha-5|interferon alpha-61|interferon alpha-G|leIF G protein-coding 1350617 IFNA6 interferon, alpha 6 1580863 20574843,20588308,19258923,17703412,15489334,15340161,15233997,12477932,9425112,8668211,4057246,1385305,20237496,20331378,20503287,11694501,7510216 3443 NM_021002,AL353732,CH471071,X02958,BC069471,BC096697,BC096710,BC096730,BC098357 NP_066282,CAH72903,EAW58613,CAA26704,AAH69471,AAH96697,AAH96710,AAH96730,AAH98357,P05013 Hs.533470 IFN-alphaK IFN-alpha-6|interferon alpha-54|interferon alpha-6|interferon alpha-K|leIF K protein-coding 1347304 IFNA7 interferon, alpha 7 1580863 2995168,15489334,12477932,9425112,8910771,8668211,6181262,4057246,1385305,9343822,9865497,7913356,17180012,16278001,15481145,8345204,7904170,7526537,1381203,8661419,7583919,1905933,2552026,16160188,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16418394,8438572,20237496,20331378,11694501,7510216 3444 NM_021057,AL512606,CH471071,V00531,X02960,BC074991,BC074992,BC113994,BC114000,M34913 NP_066401,CAH71190,EAW58620,CAA23792,CAA26706,AAH74991,AAH74992,AAI13995,AAI14001,AAA36039,P01567 Hs.282274 IFN-alphaJ|IFNA-J IFN-alpha 7|IFN-alpha-7|IFN-alpha-J1|interferon alpha-7|interferon alpha-J|interferon alpha-J1|leIF J protein-coding 1345453 IFNA8 interferon, alpha 8 1580863 20574843,20588308,6163083,19258923,17703412,17517919,15233997,12477932,9425112,8836918,8668211,6325303,6164048,4057246,1385305,20237496,20331378,20503287,8969169,11694501 3445 NM_002170,AL353732,CH471071,X03125,BC104828,BC104830,K01900,V00545,V00550 NP_002161,CAH72909,EAW58610,CAA26903,AAI04829,AAI04831,AAA52716,CAA23806,CAA23811,P32881 Hs.73890 IFN-alphaB IFN-alpha-8|interferon alpha type 201|interferon alpha-8|interferon alpha-B|interferon alpha-B'|interferon alpha-B2|leIF B protein-coding 1344393 IFNAP22 interferon, alpha pseudogene 22 8001965,6163083,1385305 3453 AL162420,V00539,NR_036676 Hs.545842 IFNAP22 pseudo 1313408 IFNAR1 interferon (alpha, beta and omega) receptor 1 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq] 1580863 19913121,20565290,20588308,20628086,19124753,19103527,18953482,18937499,18801736,18761606,18535656,18474601,18362156,18338947,18250407,18166147,18056411,17823081,17703412,17667505,17517919,17310065,17125879,17027223,17001036,16624932,16338279,16171819,15990456,15946680,15885318,15589821,19434718,19258923,15489334,15449939,15337770,15063762,14727154,14647450,14532120,12761564,12697242,12620806,12618863,12554654,12477932,12220192,11786546,11167825,10830953,10542297,9733772,9677371,9373149,9174595,9029147,8626489,8605876,8125298,7559568,7526154,2148760,1834641,1370833,20811626,17923090,7665574,2153461,8181059,1350660,9225992,9121453,19957332,11301323,15389589,19220955,19299650,19453261,19501422,19559055,19561067,19730683,19773451,19796549,19805514,19817957,19879773,19948722,20020050,20065083,20237496,20331378,20378664,20503287,7932753,8524272,9403695,11694501 3454 NM_000629,AF039907,AP000296,AP000297,AP000298,AY654286,CH471079,X60459,AK123813,AK222770,AK222812,AK298051,AK312631,BC002590,BC014338,BC021825,BC035603,BC065751,BG116121,BG548299,BX537636,CA309858,CR607541,J03171,R15745 NP_000620,AAT49100,EAX09837,EAX09838,EAX09839,CAA42992,BAD96490,BAD96532,BAG60345,BAG35516,AAH02590,AAH21825,AAA52730,P17181,ABM82249,ABM85433 Hs.529400 AVP|IFN-alpha-REC|IFNAR|IFNBR|IFRC CRF2-1|IFN-R-1|IFN-alpha/beta receptor 1|alpha-type antiviral protein|beta-type antiviral protein|cytokine receptor class-II member 1|cytokine receptor family 2 member 1|interferon alpha/beta receptor 1|interferon-alpha/beta receptor alpha chain|interferon-beta receptor 1|type I interferon receptor 1 protein-coding 1346107 IFNAR2 interferon (alpha, beta and omega) receptor 2 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq] 1580863 10339405,9121453,8889548,8181059,7759950,7665574,7570186,10395669,20811626,11046044,17923090,8798579,7588638,8969169,19434718,19401692,19258923,18971450,18801736,18715339,18676680,18456658,18456457,18338947,18027911,17703412,17697365,17667505,17572016,17517919,17095088,16624932,16518956,16106266,16054712,16000408,15885318,15717316,15449939,15389589,15287740,15286706,15063762,14980076,14647450,12960323,12842042,12618863,12477932,12220192,12218119,12133952,12105218,11888273,11786546,11301323,10830953,16710296,19170196,19299650,19362011,19453261,19505916,19625176,19667218,19692168,19714778,19773279,19773451,19796549,19817957,20065083,20087947,20237496,20331378,20453000,20503287,17567994,11694501,19913121,20485444,20588308,20628086 3455 NM_000874,NM_207584,AP000292,AP000293,AP000294,AP000295,AY740397,CH471079,L42237,L42238,L42239,L42240,L42241,L42242,L42243,AK293059,BC002793,BC013156,BG715143,BI520056,BM677386,CR541817,CR593774,CR596140,NM_207585,CR603546,CR611634,L41942,L41943,L41944,U29584,X77722,X89772,X89814,NG_016003 NP_997468,NP_000865,NP_997467,AAU21038,EAX09842,EAX09843,EAX09844,EAX09845,EAX09846,AAB46419,AAB46417,AAB46418,BAF85748,AAH02793,CAG46616,AAB46413,AAB46414,AAB46415,AAC50202,CAA54785,CAA61914,CAA61940,P48551,Q9BUA0,ABM83941,ABM87259 Hs.708195 IFN-R|IFN-alpha-REC|IFNABR|IFNARB IFN-R-2|IFN-alpha binding protein|IFN-alpha/beta receptor 2|OTTHUMP00000067674|OTTHUMP00000067675|OTTHUMP00000206687|human interferon alpha/beta receptor|interferon alpha binding protein|interferon alpha/beta receptor 2|interferon-alpha/beta receptor beta chain|type I interferon receptor 2 protein-coding 736615 IFNB1 interferon, beta 1, fibroblast 1580863 18708672,19351494,19449179,19546225,19564073,19564411,19667093,19728309,19758707,19795416,19804729,19833099,19846511,19898481,19934272,20007272,20048166,20127681,20154210,20174559,20181693,20237496,20331378,20404187,17182689,12089333,7913356,8661419,15481145,9225992,8107259,8083608,16375755,20375222,20519382,20711230,20187765,11694501,19416887,20699220,21068253,10482360,17560375,17548221,17328045,17215277,17167270,17142768,17079289,16989575,16984921,16954376,16951313,16697656,16631220,16593086,16545883,16505900,16504464,16504056,16338279,16185826,16002711,15767399,15752772,15737993,15652402,15621727,15557158,15489334,15340234,15280450,15163721,15163707,15107417,15004750,14747551,14727154,14519765,14519761,12847277,12761564,12581491,12477932,12405292,12184914,12097388,12096926,12068083,12050353,11972054,11781186,10395669,10229237,9713311,9342320,7532202,6762376,6500557,6183692,6178110,6171735,6164984,6162107,6159597,6159584,6159580,6157601,6157094,3667593,1834641,1708818,2414376,16873258,3135963,11337497,10918594,10640778,11987821,3872918,10963806,8805651,12120696,19453261,19380831,19353519,19240061,19201909,19056675,19017994,19017982,19017631,18989459,18823997,18781139,18771559,18715339,18653650,18653385,18641315,18614628,18614013,18611945,18581327,18571728,18437017,18420941,18382694,18381783,18370868,18322185,18272195,18209079,17985330,17968926,17968925,17675303,17652396,17574024,20844191,20850164,19008854,20518826,8605876,19913121,20538852,20554782,20573816,20574843,20588308,20592282,20628086 3456 NM_002176,AL390882,CH471071,EF064725,V00534,V00535,AB451323,AB451452,BC069314,BC096150,BC096151,BC096152,BC096153,M25460,M28622,V00546,V00547 NP_002167,CAH70160,EAW58625,ABK41908,CAA23795,CAA23796,BAG70137,BAG70266,AAH69314,AAH96150,AAH96151,AAH96152,AAH96153,AAC41702,AAA36040,CAA23807,CAA23808,P01574,Q15943,Q5VWC9 Hs.93177 IFB|IFF|IFNB|MGC96956 IFN-beta|fibroblast interferon|interferon beta|interferon, beta 1 protein-coding 1346018 IFNB3 interferon, beta 3, fibroblast 12009575,6304727,1440058 3457 K03196 protein-coding 1606106 IFNE interferon, epsilon 18842358,18362232,17878351,17287131,15546383,15233997,12975309,12477932,20574843,20588308,20601674 338376 NM_176891,AL353732,AY190045,AY358570,BC100871,BC100872,BC100873 NP_795372,AAO38686,AAQ88933,AAI00872,AAI00873,AAI00874,Q86WN2 Hs.682604 IFN-E|IFNE1|IFNT1|MGC119018|MGC119020|PRO655 IFN-epsilon|interferon epsilon|interferon epsilon 1|interferon epsilon-1|interferon tau-1|interferon-epsilon protein-coding 737487 IFNG interferon, gamma Interferon-gamma (IFNG), or type II interferon, is a cytokine critical for innate and adaptive immunity against viral and intracellular bacterial infections and for tumor control. Aberrant IFNG expression is associated with a number of autoinflammatory and autoimmune diseases. The importance of IFNG in the immune system stems in part from its ability to inhibit viral replication directly, but most importantly derives from its immunostimulatory and immunomodulatory effects. IFNG is produced predominantly by natural killer (NK) and natural killer T (NKT) cells as part of the innate immune response, and by CD4 (MIM 186940) and CD8 (see MIM 186910) cytotoxic T lymphocyte (CTL) effector T cells once antigen-specific immunity develops (Schoenborn and Wilson, 2007 [PubMed 17981204]).[supplied by OMIM] 2311489,2311493,2308950,2311498,2311494,2311495,2311491,2311492,2311490,1358738,1331525,1580863,2317258 21084489,21229844,20345984,20368278,20368273,18806746,18805021,18802113,18802076,18793860,18793716,18792803,18789440,18787531,18776133,18773331,18712791,18708162,18693134,18684979,18680515,18678988,18678243,18676680,18672993,18663124,18660489,18655181,18641361,18639520,18633332,18633131,18632425,18627514,18620489,18600325,18593367,18593330,18589089,18582197,18580959,18579762,18576303,18572307,18568448,18560870,18560378,18556463,18550653,18548239,18533937,18522869,18521569,18519231,18514317,18502564,18497880,18485114,18426658,18414898,18410260,18390192,18388249,18388182,18385764,18385742,18368485,18366487,18365030,18361939,18361934,18339897,18339625,18337305,18332247,18322182,18312596,18307517,18300344,18287963,18287876,18286551,18279717,18276105,18275349,18275276,18266836,18263601,18249037,18230112,18209488,18209080,18205804,18199975,18199828,18199488,18506884,17612762,17582674,17572155,17566759,17553352,17552041,17546485,17544674,17532201,17521731,17521325,17509455,17498265,17495004,17477815,17470541,17456233,17454884,17444864,17441979,17405833,17392368,17392024,17388919,17376993,17373677,17363736,17363708,17355643,17348243,17347451,17304101,17301401,17300840,17276141,17266440,17262717,17261759,17257312,17238853,17237409,17227821,17217140,17215524,17215375,17215337,17211638,17209781,17207568,17198275,17182600,17159260,17154717,17152005,17148586,17145371,17142760,17142750,17138064,17138053,17136124,17121582,17117487,17110450,17097497,17082625,17049266,17035315,17033822,17028199,17026468,17021766,17015683,17013806,17006334,16984280,16970687,16966412,16962335,16961714,16950634,16944293,16938650,16938461,16930778,16919160,16916659,16914208,16903774,16897354,16889932,16873363,16863661,16861684,16861661,16824159,16820703,16785527,16762155,16754651,16730575,16724074,16723718,16720107,16718821,16704689,16690980,16689860,16681592,16678358,16672072,16621981,16616105,16574426,16567828,16540751,16538877,16504056,16493441,16487180,16487026,16484229,16478776,16476013,16474934,16434471,16433832,16430971,16427044,16425360,17627763,16421220,18174382,18174256,18174230,18158121,18091521,18077789,18070901,18062910,18062835,18056971,18051824,18041006,18039196,17996064,17994425,17989610,17988330,17988266,17986321,17986123,17981204,17976320,17974504,17960405,17953379,17947510,17940602,17937104,17936906,17922402,17916356,17911610,17900510,17889143,17885647,17878156,17875674,17852079,17846855,17845304,17827383,17728221,17719815,17714919,17713715,17709420,17703412,17700165,17697357,17697145,17682837,17674321,17656678,17655693,17654453,17641061,17641021,17640674,15322002,15316224,15297269,15271977,15265425,15251440,15247172,15235581,15215891,15214940,15207246,15200452,15194285,15189946,15182335,15170937,15166131,15162834,15135368,15120189,15115662,15078471,15068623,15066699,15051500,15041164,15019280,15018649,15322007,15004750,14993214,14992891,14988089,14978096,14976609,14969768,14962095,14959851,14872501,14753294,14734771,14734640,14704034,14698136,14694183,14692664,14690454,14688135,14681912,14675398,14675394,14661818,14631168,14625191,14607968,14607900,14607827,14602571,14601649,14566095,14558082,14522096,14499500,12975380,12968017,12965263,12960156,12944981,12938195,12928400,12917425,12914676,12909463,12890425,12854077,12851716,12850811,12819637,12818128,12813035,12804771,12794718,12788577,12788307,12761564,12754213,12751024,12750172,12738388,12727483,12727482,14511565,12700631,12645529,12633940,12615834,12609526,12595908,12594832,12590978,12588705,12581491,12579348,12558814,12555203,12552499,12548511,12542496,12533683,12531774,12531694,12526950,12507818,12486605,12479817,12477932,12473063,12471139,12451269,12444137,12441140,12438388,12438348,12420205,12401479,12394188,12393446,12389079,12377943,12370385,12370350,12368207,12366695,12358843,12296868,12239181,12232842,12223516,12223098,12219025,12209087,12203138,12192641,12191570,12170266,12165521,12162874,12162871,12105273,12102661,12097398,12089714,12084660,12070781,12060750,12050152,12047360,12042661,12020266,12011077,12006410,11991675,11986939,11986281,11984595,11981433,11980899,11970958,11966872,11964313,11953317,11947926,11943142,11936954,11920321,11906646,11900986,11876761,11865054,11861290,11857344,11857052,11854210,11854199,11841489,11831440,11830476,11821159,11796707,11786536,11781192,11781187,11774563,11772518,11755617,11751951,11700035,11544434,11544427,11528517,11404167,11391238,11316066,11315919,11298547,11298489,11292301,11266928,11266927,11240951,10986460,10860730,10775602,10446807,10438928,9916748,9743208,8809126,8760410,8679287,8619916,8065455,7818827,7617032,7590734,7587386,6427223,6329718,6305337,6180322,6176945,6173769,3109913,2860101,2514776,2504704,1905983,1902591,1708818,1662603,1525157,1400376,8247028,17023015,16160188,15481145,12089333,9658081,9225992,9108403,8764000,7815507,7511078,15936090,15320903,2452186,10933622,8648753,8706326,8661419,9534962,7583919,1905933,17180012,8537091,8345204,7904170,7526537,16375755,15737643,16427155,16014948,9712080,752301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2311489,2311493,2308950,2311498,2311494,2311495,2311491,2311492,2311490,1358738,1331525,2317258 3458 AC007458,AF375790,CH471054,J00219,AB451324,AB451453,AF506749,AM903379,AY044154,AY255837,AY255839,BC070256,V00543,X01992,X13274,X62468,X62469,X62470,X62471,X62472,X62473,X62474,X87308,NM_000619,NG_015840 NP_000610,AAK53058,EAW97180,AAB59534,BAG70138,BAG70267,AAM28885,CAP17327,AAK95388,AAP20098,AAP20100,AAH70256,CAA23804,CAA26022,CAA31639,CAA44325,CAA44326,CAA44327,CAA44328,CAA44329,CAA44330,CAA44331,P01579,Q14609,Q14610,Q14611,Q14612,Q14613,Q14614,Q14615,Q8NHY9,Q96LA2 Hs.856 IFG|IFI IFN-gamma|immune interferon|interferon gamma protein-coding 1349807 IFNGR1 interferon gamma receptor 1 This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq] 1624283,1580863 19913121,20587546,20588308,20628086,20673868,20677014,20799037,11250200,19170196,19269302,19279332,19488747,19575238,19625176,19681704,19692168,19712753,19723394,19734231,19739012,19948975,20015550,20055726,20070287,20196868,20237496,20331378,20399512,20412699,20452482,20453000,20500698,15756299,15527154,15522878,15494521,15489334,15207788,15182327,15047947,15004750,14763782,14734726,14574404,12851715,12753505,12743658,12543882,12516030,12477932,12454749,12438563,12244188,12165521,12133952,12034035,12027427,12023780,12020266,11865431,11857344,11585785,11438544,11240951,11139207,10986460,10811850,10192386,10022928,9389728,9373149,16233916,16115485,15952126,9367779,9112336,8960475,8960473,8889548,8500521,8456300,8443182,8156998,8136357,8125298,7673114,7617032,7514165,7499845,2532616,1826725,10415122,2971451,2954953,19247692,19172849,19141860,18953482,18931463,18809513,18702743,18676680,18633131,18620489,18593809,18555234,18548239,18414508,18287876,17986123,17697357,17618444,17572155,17546485,17513528,17477815,17431682,17392024,17348823,17339358,17251453,17166914,17152005,17136124,17030574,17023216,16944293,16867043,16785527,16690980,16563189,16491350,16476014,8631301,20959405,20980339 1624283 3459 NG_007394,AJ490331,AL050337,AY594694,CH471051,U19247,AF056979,AK127636,AK222803,AK294252,AK297052,AK312674,BC005333,BT006814,BU674317,CR594485,CR601864,CR624388,CR625186,DC349115,EF535103,J03143,NM_000416 NP_000407,CAD35933,CAB53062,CAI21592,CAI21593,AAS89302,EAW47931,EAW47932,AAC52064,AAK30623,BAD96523,BAG57548,BAG59578,BAG35556,AAH05333,AAP35460,ABQ00413,AAA52731,P15260,Q14936,Q53GX8,Q5TFD1,Q7Z687,Q9BY69 Hs.520414 CD119|FLJ45734|IFNGR AVP, type 2|CD119 antigen|CDw119|IFN-gamma receptor 1|IFN-gamma-R1|OTTHUMP00000017286|antiviral protein, type 2|immune interferon receptor 1|interferon gamma receptor 1|interferon-gamma receptor alpha chain protein-coding 1316782 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq] 1580863 16670301,19170196,19269302,19505916,19625176,19657228,19692168,19789190,19948975,20039824,20237496,20378664,20452482,20453000,20503287,8349631,9616207,8124716,16780588,8910544,19258923,19247692,19172849,19141860,19012493,18676680,18633131,18620489,18249187,17703412,17697357,17618444,17546485,17220333,16944293,16885196,16867043,16690980,16467883,16467876,16115485,15979955,15952126,15924140,15585559,15489334,15182327,15004750,14651967,12477932,12420205,12020266,11679576,11585785,11240951,10830953,7673114,7514165,3136170,2141727,15103018,8631301,20952689,20959405,20980339,19913121,20554027,20587546,20588308,20628086,20673868 3460 NM_005534,NG_007570,AP000299,AP000300,AY644470,CH471079,U68755,AI824138,AK292246,AK314005,BC003624,BG391103,BQ008968,CB992729,CR592484,CR592823,CR596056,CR598065,CR600779,CR602883,CR607346,CR607841,CR614391,CR617048,CR617094,CR617691,CR618682,CR621659,CR624031,U05875,U05877 NP_005525,AAT45458,EAX09834,EAX09835,AAC52066,BAF84935,BAG36717,AAH03624,AAA16955,AAA16956,P38484,ABM83246,ABM86448 Hs.634632 AF-1|IFGR2|IFNGT1 IFN-gamma receptor 2|IFN-gamma-R2|OTTHUMP00000067751|interferon gamma receptor 2|interferon gamma receptor accessory factor 1|interferon gamma receptor accessory factor-1|interferon gamma receptor beta chain|interferon gamma transducer 1 protein-coding 1319166 IFNK interferon, kappa This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq] 1580863 20479716,11514542,18615156,15340161,15164053,12975309,12391192,20574843,20588308,20634891,20706608,19734901,19887612,20694011,20801718 56832 NM_020124,AF384048,AL451123,CH471071,AF146759,AF315688,AY358855 NP_064509,AAK63835,CAI13042,EAW58563,AAF67468,AAK01623,AAQ89214,Q9P0W0,AAI40281,AAI41648 Hs.591083 RP11-27J8.1 IFN-kappa|interferon kappa|interferon-like protein protein-coding 2303318 IFNNP1 interferon, nu 1 (pseudogene) 15922016 654783 NG_009495,AL390882 pseudo 1353177 IFNP11 interferon pseudogene 11 4057246 3461,3461 AL353732,NG_027866 IFNP11 pseudo 1343819 IFNP12 interferon pseudogene 12 15233997,4057246 3462,158011 AL353732,NG_004681 IFNP12|IFNWP12 pseudo 1352704 IFNP20 interferon pseudogene 20 3463,3463 AL162420,NG_027867 FLJ13568|IFNP20 pseudo 1346971 IFNP23 interferon pseudogene 23 3464 1350385 IFNP24 interferon pseudogene 24 8001965 3465 1351291 IFNR interferon production regulator 1906174,1193239 3466 1350481 IFNW1 interferon, omega 1 1580863 20237496,20331378,19863576,1647209,10835682,16504056,15621727,15489334,15340161,12477932,3895159,2985969,1834641,1693148,1385305,12089333,7913356,20574843,20588308,20677014 3467 NM_002177,AL390882,CH471071,CQ847553,M11003,U25670,X58822,AY780805,BC069095,BC117290,BC117292,X02669,A12140 NP_002168,CAH70158,EAW58624,CAH18028,AAA52724,AAA70091,CAA41626,AAV49320,AAH69095,AAI17291,AAI17293,CAA26501,P05000,CAA01011,ADR82862 Hs.73010 IFN-omega 1, interferon omega-1|interferon alpha-II-1|interferon omega-1 protein-coding 1342707 IFNWP15 interferon, omega 15 (pseudogene) 4057246,3857460,1385305 100130866 NG_001150,K03013,AL512606 pseudo 1342493 IFNWP18 interferon, omega 18 (pseudogene) 15489334,9425112,8910771,6397400,6181262,4057246,2995168,1385305 360001 NG_002922,AL512606,V00531 LEIF-M pseudo 1345875 IFNWP19 interferon, omega 19 (pseudogene) 15233997,1385305 3474 AL353732,NG_005641 pseudo 1349798 IFNWP2 interferon, omega 2 (pseudogene) 15233997,8001965 3468,646581 AL353732,NG_011585 pseudo 1349149 IFNWP4 interferon, omega 4 (pseudogene) 3469 1353743 IFNWP5 interferon, omega 5 (pseudogene) 19373437,8001965 3470,392292 AL162420,NG_016582 pseudo 1343854 IFNWP9 interferon, omega 9 (pseudogene) 1385305,1385305,8001965 3471,100130671 AL512606,NG_016396 pseudo 69163 IFRD1 interferon-related developmental regulator 1 729090,1580863 7756174,19409521,19242412,17317687,16204248,15743821,15489334,12878157,12853948,12691737,12690205,12477932,12198164,12107410,9822615,9722946,9373149,8889548,8125298,8028043,2797820,2467301,16169070,20080976,20195544,20400778,17207965 729090 3475 NM_001007245,NM_001550,AC002459,AC005192,AC079741,CH236947,CH471070,AK225222,AK297509,AK298894,AK308066,AK313211,AK315967,AU280361,BC001272,BI915700,BT019889,BT019890,BX648799,CA389949,CA503278,CR602983,CR614885,CR616001,BF061555,DC314572,DC352698,NG_027799,NM_001197079,NM_001197080 NP_001007246,NP_001541,AAC24562,AAS07421,AAS02003,AAS02004,EAL24375,EAW83462,EAW83463,BAH12596,BAH12897,BAH14338,AAH01272,AAV38692,AAV38693,O00458,Q75M98,Q75M99,Q75MS4,ADQ31820,NP_001184008,NP_001184009 Hs.7879,Hs.664153 PC4|TIS7 12-O-tetradecanoylphorbol-13-acetate-induced sequence 7|TPA induced sequence 7|interferon-related developmental regulator 1|nerve growth factor-inducible protein PC4|pheochromocytoma cell-4 protein-coding 1320999 IFRD2 interferon-related developmental regulator 2 1580863 9050919,16303743,15489334,14702039,12477932,11085536,9722946,19615732,20689807 7866 CH471055,U73167,AI292274,AK074763,AK097765,AK309114,BC001327,BC001676,BC007265,BC007437,BI825477,BT019999,CR590665,CR592164,CR599544,NM_006764,CR604048,CR604200,CR609322,CR609875,U09585,Y12395 NP_006755,EAW65069,EAW65070,AAC02728,BAG51999,AAH01327,AAH01676,AAH07265,AAH07437,AAV38802,AAC16924,CAA73027,Q12894,Q5TZV8,Q9UJ88,ACE87717,ACE87031 Hs.315177,Hs.727574 FLJ40446|IFNRP|SKMc15|SM15 OTTHUMP00000211050|interferon-related developmental regulator 2|interferon-related protein protein-coding 1602869 IFRG15 interferon responsive gene 15 12477932 64163 NM_022347,AL359853,CH471067,AJ299406,AK289793,BC032790,BC096704,BC098170,BC098309,BC098348 NP_071742,EAW91065,CAC13974,BAF82482,AAH32790,AAH96704,AAH98170,AAH98309,AAH98348,Q9H496 Hs.655655,Hs.716051 MGC120074|MGC120077 protein-coding 1349473 IFT122 intraflagellar transport 122 homolog (Chlamydomonas) This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 16344560,14702039,12477932,11242542,9373149,8125298,20493458 55764 NM_052989,NM_052990,NM_018262,AC080007,AL449212,CH471052,AF244930,AF244931,AF302154,AK000773,AK001759,AK001955,AK022525,AK023000,AK024435,AK057162,AK093440,AK094922,AK096891,AK122965,AK124140,NM_052985,AK223095,AK293852,AK294515,AK298526,AK299903,AK307463,AK315103,AL133565,AL833851,AU123134,BC003045,BC004238,BC028353,CR614053,DC343174,NG_023392 Q7L8K0,Q8NDL0,Q8TC06,Q9BTY4,Q9H7P3,Q9H9Z0,Q9HBG5,Q9HBG6,Q9NUW6,Q9NV68,ACE87036,BAG54015,Q53G36,ACE87720,NP_443711,NP_443715,NP_443716,NP_060732,EAW79245,EAW79246,EAW79247,EAW79248,EAW79249,EAW79250,AAG15427,AAG15428,AAG13415,BAA91888,BAA92000,BAB14077,BAG51146,BAB15725,BAG52955,BAG53393,BAG53823,BAD96815,BAG57250,BAG57728,BAG60729,BAG61744,CAB63718,CAD38710,AAH03045,AAH04238,AAH28353 Hs.655284 CED|SPG|WDR10|WDR10p|WDR140 OTTHUMP00000215613|OTTHUMP00000222388|WD repeat domain 10|WD repeat-containing protein 10|WD repeat-containing protein 140|intraflagellar transport protein 122 homolog protein-coding 1605413 IFT140 intraflagellar transport 140 homolog (Chlamydomonas) 20936779,15489334,14702039,12477932,12421765,11157797,9628581 9742 AE006467,AE006639,AL031705,AL031719,AL031720,AL133297,CH471112,Z97633,Z97652,AB011162,AB209020,AK001168,AK001797,AK055133,AK299035,AK299115,AL080069,AW245075,BC035577,NM_014714,DC401677 NP_055529,AAK61285,AAK61287,CAM26342,CAM26447,EAW85642,EAW85643,EAW85644,CAM26352,CAM26430,BAA25516,BAD92257,BAG51475,BAG61110,BAG61170,CAB45696,AAH35577,Q59GT9,Q96RY6,Q96RY7,Q9UG52,CAM26410 Hs.389438 DKFZp564L232|FLJ10306|FLJ30571|KIAA0590|WDTC2|c305C8.4|c380F5.1|gs114 OTTHUMP00000158737|WD and tetratricopeptide repeats 2|WD and tetratricopeptide repeats protein 2|intraflagellar transport protein 140 homolog protein-coding 731569 IFT172 intraflagellar transport 172 homolog (Chlamydomonas) 20383146,20705733,10574461,14702039,12477932,10788441,20379614 26160 NM_015662,AC074117,CH471053,AB033005,AK055826,AK299576,AK304658,AK310417,AL110218,AL117421,BC008024,BC014849,BC038461,BC047294,BC137126,BC142675,BC142729,BC144491,CR603740 NP_056477,EAX00571,EAX00572,EAX00573,EAX00574,EAX00575,BAA86493,BAG51580,BAG61513,BAG65433,CAB53678,CAB55914,AAH08024,AAH47294,AAI37127,AAI42676,AAI42730,Q9UG01 Hs.127401 DKFZp434A163|KIAA1179|SLB|osm-1|wim intraflagellar transport protein 172 homolog|selective LIM binding factor homolog|wimple homolog protein-coding 1605017 IFT20 intraflagellar transport 20 homolog (Chlamydomonas) 16189514,16775004,15489334,17207965,15337773,14672413,12821668,12477932,9110174,8619474 90410 NM_174887,AC002094,CH471159,AF070643,AY224601,BC002640,BC038094,CR612328 NP_777547,EAW51070,EAW51071,EAW51072,EAW51073,EAW51074,EAW51075,EAW51076,AAP50265,AAH02640,AAH38094,Q8IY31,ADQ32813 Hs.705431 hIFT20|intraflagellar transport protein 20 homolog|intraflagellar transport protein 20-like|intraflagellar transport protein IFT20 protein-coding 1322228 IFT52 intraflagellar transport 52 homolog (Chlamydomonas) 15489334,14702039,12477932,11780052,11549316,11337467,10810093 51098 AL121886,NM_016004,CH471077,Z98752,AF151811,AK001436,AU100321,BC039831,CR594560,CR603535,CR605992,CR610272,CR617796,AK301915 NP_057088,CAI18925,EAW75953,EAW75954,CAI42316,AAD34048,BAG50913,AAH39831,Q9Y366,BAG63339 Hs.444332 C20orf9|CGI-53|NGD2|NGD5|dJ1028D15.1 chromosome 20 open reading frame 9|intraflagellar transport protein 52 homolog|protein NGD5 homolog protein-coding 1314279 IFT57 intraflagellar transport 57 homolog (Chlamydomonas) 1580863 11788820,18188704,17173859,17142908,16364650,16344560,15314642,14702039,12821668,12745083,12477932,11807533,9140394,16169070 55081 NM_018010,AC012020,AC078855,AC133475,CH471052,AB014762,AF139576,AF245220,AK001009,AK298854,BC009690,BC011899,CR457251,CR592400,CR597683,CR605606,CR619481,CR626087,DA362330 NP_060480,EAW79730,BAB87803,AAK13588,AAK28373,BAA91466,BAG60977,AAH09690,AAH11899,CAG33532,Q9NWB7,ABM83976,ABM87297 Hs.412196 ESRRBL1|FLJ10147|HIPPI|MHS4R2 HIP1 protein interactor|HIP1-interacting protein|dermal papilla-derived protein 8|estrogen-related receptor beta like 1|estrogen-related receptor beta-like protein 1|huntingtin interacting protein-1 interacting protein|intraflagellar transport protein 57 homolog protein-coding 1342560 IFT74 intraflagellar transport 74 homolog (Chlamydomonas) 8125298,11683410,9373149,17383054,16344560,15489334,14702039,12477932 80173 NM_001099223,NM_001099222,NM_025103,NM_001099224,AL355432,AL356133,CH471071,AA888911,AI919195,AK023707,AK026274,AK225570,AY040325,BC023634,BC056875,BC107742,BC113524,BC113526,CR617782,CR621331,DA617917,DB049275,DB451450 NP_001092693,NP_001092692,NP_079379,NP_001092694,CAH72643,EAW58573,BAB14650,BAB15423,AAK77221,AAH23634,AAI07743,AAI13525,Q3B789,Q8IUV3,Q96LB3 Hs.145402 CCDC2|CMG-1|CMG1|FLJ22621|MGC111562 capillary morphogenesis gene 1 protein|capillary morphogenesis protein 1|coiled-coil domain containing 2|coiled-coil domain-containing protein 2|intraflagellar transport protein 74 homolog protein-coding 1606252 IFT80 intraflagellar transport 80 homolog (Chlamydomonas) The IFT80 gene encodes a protein with 7 WD40 domains that is a component of the intraflagellar transport (IFT) complex B (Beales et al., 2007 [PubMed 17468754]). The IFT is essential for the development and maintenance of motile and sensory cilia.[supplied by OMIM] 18601909,17468754,16641997,14702039,12477932,12421765,10718198 57560 CA421514,DR000297,NG_022932,NM_001190241,NM_001190242,NM_020800,AC024221,AC079594,CH471052,AB037795,AK025109,AK055904,AK125342,AK303410,AL133045,BC030774,BC036596,BC042027,BC101494,BC113669 NP_001177170,NP_001177171,NP_065851,EAW78643,EAW78644,EAW78645,EAW78646,EAW78647,EAW78648,BAA92612,BAG64463,CAB61372,AAH42027,AAI01495,AAI13670,Q9P2H3,ADR83267 Hs.478095 ATD2|KIAA1374|MGC126543|WDR56 OTTHUMP00000213729|OTTHUMP00000213730|OTTHUMP00000221710|WD repeat domain 56|WD repeat-containing protein 56|intraflagellar transport protein 80 homolog protein-coding 1606304 IFT81 intraflagellar transport 81 homolog (Chlamydomonas) 15489334,15342556,14702039,12549821,12477932,11130971,17207965 28981 NM_014055,NM_031473,NM_001143779,AC007546,AC009730,CH471054,AF078932,AF139540,AF250326,AF332010,AK000874,AK091549,AK291043,BC004536,BC005396,BC029349,BC108257,BP351086,CR608549 NP_054774,NP_113661,NP_001137251,EAW97897,EAW97898,EAW97899,EAW97900,EAW97901,AAD48091,AAP97269,AAL50343,AAO32947,BAC03690,BAF83732,AAH04536,AAH05396,AAH29349,AAI08258,Q05DP9,Q8WYA0,ADQ31808 Hs.528382 CDV-1|CDV-1R|CDV1|CDV1R|MGC102777|MGC4027 carnitine deficiency-associated gene expressed in ventricle 1|carnitine deficiency-associated protein expressed in ventricle 1|intraflagellar transport 81-like|intraflagellar transport protein 81 homolog protein-coding 1320207 IFT88 intraflagellar transport 88 homolog (Chlamydomonas) This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 14667819,7633404,17264151,16043481,12477932,11329013,11251073,10462374,10200981,9362446,8597639,8191288,20379614,20713499 8100 AL161772,AL590096,CH471075,AK058172,AK126668,AK300769,AK303853,AK308281,AK310223,BC030776,BC059357,BG182322,BX640833,U20362,NM_175605,NM_006531 CAH70874,CAI14390,CAI14391,EAX08266,EAX08267,EAX08268,EAX08269,EAX08270,EAX08271,EAX08272,EAX08273,BAG54354,BAG62434,BAG64794,AAH30776,CAE45907,AAA86720,Q13099,Q5SZJ5,Q6MZX0,ABW03641,ABW03295,NP_783195,NP_006522 Hs.187376 D13S1056E|DAF19|MGC26259|RP11-172H24.2|TG737|TTC10|hTg737 TPR repeat protein 10|intraflagellar transport protein 88 homolog|polaris homolog|probe hTg737 (polycystic kidney disease, autosomal recessive)|recessive polycystic kidney disease protein Tg737 homolog|tetratricopeptide repeat domain 10|tetratricopeptide repeat protein 10 protein-coding 1347418 IGAD1 immunoglobulin A (IgA) deficiency susceptibility 1 10090895 10986 732872 IGBP1 immunoglobulin (CD79A) binding protein 1 The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq] 1580863 11371618,10508479,10441131,9441740,16085932,18782753,18715871,11806752,9647778,16769727,18186651,18029348,16517231,15772651,15489334,14702039,14556245,12477932,17438131,18949047,19553685,20237496,20544796 3476 NM_001551,NG_012084,AL139111,AL158141,CH471132,AK054596,AK315660,BC004137,BT006736,CR456782,CR591988,CR593604,CR596975,CR597289,CR597909,CR603491,CR604445,CR606253,CR606503,CR613988,Y08915,EF064724 NP_001542,CAI41587,CAD13488,EAX05355,EAX05356,BAG51396,BAG38026,AAH04137,AAP35382,CAG33063,CAA70119,P78318,ABM83248,ABM86450,ABK41907 Hs.496267 ALPHA-4|IBP1 B cell signal transduction molecule alpha 4|B-cell signal transduction molecule alpha 4|CD79a-binding protein 1|bA351K23.1 (immunoglobulin binding protein 1 (CD79A) )|immunoglobulin binding protein 1|immunoglobulin-binding protein 1|protein alpha-4|protein phosphatase 2A, regulatory subunit alpha-4|renal carcinoma antigen NY-REN-16 protein-coding 1316476 IGDCC3 immunoglobulin superfamily, DCC subclass, member 3 1580863 20379614,15489334,14702039,12477932,11591653,9922388 9543 NM_004884,AC105129,CH471082,AF063936,AI740721,AK095529,BC042054,BC067107,BX389424,CB988291,CR623830 NP_004875,EAW77722,AAD13399,BAG53078,AAH42054,AAH67107,Q8IVU1 Hs.128292 HsT18880|PUNC immunoglobulin superfamily DCC subclass member 3|putative neuronal cell adhesion molecule protein-coding 1602692 IGDCC4 immunoglobulin superfamily, DCC subclass, member 4 20139978,18029348,12477932,10997877,10708514 57722 AK124045,BC040648,NM_020962,AC105129,CH471082,AB046848,AB052622 Q8TDY8,AAI52806,BAB86306,NP_066013,EAW77723,EAW77724,EAW77725,BAB13454 Hs.458607 DDM36|FLJ42051|KIAA1628|NOPE hDDM36|immunoglobulin superfamily DCC subclass member 4|likely ortholog of mouse neighbor of Punc E11|neighbor of Punc E11 protein-coding 1351192 IGES immunoglobulin E concentration, serum 8178175 3478 70506 IGF1 insulin-like growth factor 1 (somatomedin C) The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Several transcript variants encoding different isoforms have been found for this gene. 1580477,1626121,1626333,2313764,2313765,2313767,2313768,2313769,2311504,2306694,2306696,2306687,2306697,2306713,2306715,2306690,2306671,2306688,2311502,1580863,1598411,1598413,1598415,1598420,1582623,1598442,1598445,1598446,1598454,1598419,1598421,1598422,1598423,1598424,1598425,1598426,1598427,1624297,1580473,1580474,2317639,2317643,2306689,2317647,4142788 20472480,20668042,20013551,20051649,20356932,20423985,17006543,16998819,16981855,16970944,16969385,16962112,16955207,16953217,16940243,16939403,16935391,16926156,16924115,16888814,16887362,16873705,16868142,16847815,16846747,16840657,16831875,16825188,16820871,16807888,16785149,16778368,16776662,16728464,16724947,16720666,16716629,16716263,16670160,16648498,16645019,16635594,16516166,16498050,16489531,16448675,16433617,16418517,16418515,16412381,16404426,16400188,16394092,16369467,16361587,16352686,16352683,16332723,16330010,16322331,16306230,16306136,16297654,16294334,16244494,16215864,16195423,16189249,16161053,16159864,16133873,16115888,16111879,16051222,16044163,16041536,16030120,16019437,16015705,16000303,15986122,15956340,15954927,15950665,15941947,15932773,15927083,15894673,15894537,15891958,15888547,15879687,15867218,15849510,15848608,15845624,15844470,15820831,15809062,17484040,17470458,17458902,17447118,17425608,17418605,17412783,17410466,17396438,17396115,17388800,17387582,17385724,17377412,17377396,17376820,17363459,17363178,17350302,17330866,17320874,17320297,17317669,17311016,17300730,17289909,17289286,17265493,17264182,17255202,17254778,17234973,17218729,17211256,17187018,17179726,17179152,17174724,17166846,17164408,17164371,17156777,17148586,17142521,17133354,17119061,17116217,17113753,17108398,17107821,17096324,17090643,17082888,17066319,17063263,17062892,17051426,17045571,17044098,17033713,17033263,17015410,17010800,17010055,18059035,18054929,18052685,18050312,18045956,18037753,18031946,18026134,18022169,18006928,18006148,18003755,17997337,17991453,17989724,17975158,17957164,17953960,17936052,17921143,17920708,17916769,17912004,17911177,17904522,17895313,17888024,17879951,17851271,17827393,17827385,17785698,17761791,17724372,17721831,17709895,17702838,17689128,17668637,17666480,17666477,17666470,17666408,17652764,17651480,17624368,17622956,17617058,17597610,17597108,17581609,17574386,17569567,17566087,17561390,17560756,17560457,17560154,17556532,17555512,17546465,17545516,17520698,17509524,17499363,17499312,17497031,17492509,17486636,18064566,14749262,14744783,14715837,14714750,14710359,14710346,14710345,14697248,14693733,14691340,14691011,14690534,14684690,14684598,14681231,14674122,14673951,14668202,14657423,14647921,14633859,14631161,14605256,14604834,14602779,14557458,14504195,13130502,12970325,12960100,12949013,12948293,12943991,12937290,12937269,12930919,12919702,12915683,12909598,12891709,12870155,12867429,12865482,12861174,12858577,12843187,12843179,12843178,12842994,12810534,12800944,12791939,12759337,12746292,12734180,12732844,12730416,12729801,12727948,12716875,12716855,14757186,12716804,12714114,12679458,12642873,12631341,12612059,12610514,12592062,12590636,12590635,12571183,12562960,12555073,12545204,12519841,12511011,12509920,12508940,12508929,12508918,12508917,12508916,12508915,12477932,12424437,12419777,12397390,12394769,12389335,12388463,12381752,12364325,12356750,12240900,12237896,12236578,12218293,12217887,12213898,12201212,12186542,12175483,12164325,12135360,12135130,15784711,15780948,15767261,15756256,15735081,15734965,15731363,15726267,15695599,15692088,15688209,15678496,15668488,15668470,15661050,15657590,15653207,15641264,15641262,15625284,15618451,15616898,15616244,15611844,15611085,15586244,15579776,15576456,15556609,15548698,15537892,15528386,15522943,15517912,15514031,15509657,15505506,15489542,15485651,15477425,15451424,15386404,15358562,15350139,15345670,15331555,15304489,15302607,15302582,15302288,15292338,15276114,15272914,15272501,15256976,15256490,15254679,15247132,15240644,15231015,15223841,15221971,15221500,15217931,15211595,15210945,15205474,15187095,15181035,15140223,15135045,15134305,15105834,15098919,15090033,15087580,15086466,15082485,15072640,15067513,15049048,15047131,15044591,15033949,15033176,14973173,14961074,14764950,14761840,7511544,6382022,6358902,6189745,4550398,3683205,3455760,3242681,3002851,2982726,2937782,2935423,2082190,2036417,2018498,1852007,1791841,1733942,1372070,1370435,1319992,632300,12787886,12735930,9446566,1383255,11749962,14521955,10407151,19506539,20395543,20559971,15862031,20355242,20801067,20927124,20633033,20734064,20810604,20920870,20935157,21039458,21046444,21047277,21078522,19276999,18975254,18067523,15797461,12127559,9681507,8452530,10749889,10766744,10848592,10448861,10191278,17531227,16942485,7692086,7688386,9722506,12746903,7188854,7782332,8421089,10459853,2752154,14718574,19634821,19634593,19603014,19598235,19551864,19543094,19533653,19530221,19527514,19474142,19470623,19470380,19470256,19453261,19417744,19417076,19346585,19340002,19336370,19330922,19318457,19308628,19304869,19300521,19293581,19293573,19251054,19250636,19246485,19240240,19235591,19229608,19228610,19223521,19217707,19207031,19194113,19167357,19160571,19147602,19136503,19129715,19127217,19124510,19124506,19103645,19094228,19091070,19085695,19077426,19075184,19070892,19064572,19064563,19064126,19050262,19038795,19021034,19019335,19012097,19010705,19004037,18996102,18992263,18992148,18991569,18981102,18979395,19269948,18948617,18924579,18852162,18831980,18828733,18818748,18814240,18812263,18785005,18781172,18774952,18762812,18761080,18757322,18703768,18697743,18676680,18675202,18666027,18665784,18662893,18658030,18653547,18648544,18636198,18636124,18631396,18623088,18618736,18616667,18615538,18614962,18603571,18598695,18596909,18577518,18568888,18567578,18567511,18562769,18560445,18552658,18547344,18544576,18538283,18537700,18535190,18534134,18520331,18507054,18502759,18499368,18490653,18482854,18466350,18464752,18461658,18451573,18437163,18432585,18432248,18420583,18413316,18410545,18403642,18401200,18398029,18377765,18375957,18372285,18365879,18349294,18335323,18317720,18316725,18316619,18311789,18308828,18301972,18299470,18283040,18259111,18250100,18246120,18237549,18236213,18215216,18215180,18199734,18199422,18188667,18178497,18177247,18174288,18166823,18163429,18082739,18079751,18079201,18079194,12122101,12115549,12111701,12102164,12095637,12086966,12070137,12062094,12050240,12032677,12011225,12011046,12006706,12005306,11994678,11994280,11988840,11972897,11964397,11953210,11943599,11937187,11924928,11914026,11914023,11909998,11907830,11904589,11903419,11897674,11896491,11877670,11877395,11867942,11858767,11857446,11834727,11825899,11822578,11787050,11768601,11762714,11735247,11600567,11344214,11319179,11246885,11175789,11161840,11063745,10823924,10391209,10381171,10350456,10226805,10205209,10084601,9857239,9853872,9831081,9722589,9497324,9453236,9138096,8939990,8857020,8495408,7916968,7720641,7683646,19572220,19932628,20031461,20163445,20427254,19728079,19797396,20132087,20378848,20389101,20603485,1147105,16008890,17236585,17343577,17419944,17953371,18481170,19027918,19067728,19138871,19170196,19190540,19207313,19238412,19246276,19254914,19323791,19332270,19346116,19386527,19398211,19406747,19423701,19424673,19426107,19434535,19467892,19472023,19482057,19488994,19491931,19526274,19560785,19563785,19567392,19568604,19571555,19578119,19585556,19605357,19618660,19625176,19626396,19639489,19658040,19672706,19680783,19690970,19692168,19709092,19729319,19751734,19759555,19770497,19773182,19773405,19784788,19813164,19833751,19843326,19846733,19858071,19887603,19891769,19893584,19895315,19906888,19917654,19919531,19938957,19942582,19944347,19948975,19966181,19966862,20010316,20010501,20016970,20022575,20039319,20044479,20048152,20080855,20081858,20086250,20098680,20098959,20100838,20119675,20142246,20145156,20157552,20176597,20185807,20189936,20190159,20190537,20190549,20199671,20202860,20206398,20207740,20214787,20215395,20230795,20300125,20302654,20306690,20351102,20360006,20379614,20403354,20403997,20414942,20416304,20418654,20419449,20435602,20437058,20452482,20453000,20468064,20484221,20490824,20487628,19845745,20220546,10512690,20670935,18284609,20372799,19863750,19955757,20150439,20818748,20858702,20220555,20363874,20047081,20099280,20182617,20534752,20426845,20002733,20155489,20231902,20473871,20486202,20810576,20872173,19786462,19913121,20089844,20519361,20571236,20571754,20580999,20587610,20602615,20628086,20634197,20673868,20730440 1580477,1626121,1626333,2313764,2313765,2313767,2313768,2313769,2311504,2306694,2306696,2306687,2306697,2306713,2306715,2306690,2306671,2306688,2311502,1598411,1598413,1598415,1598420,1582623,1598442,1598445,1598446,1598454,1598419,1598421,1598422,1598423,1598424,1598425,1598426,1598427,1624297,1580473,1580474,2317639,2317643,2306689,2317647,4142788 3479 NM_000618,NM_001111283,NM_001111284,NM_001111285,NG_011713,AC010202,AC068648,AY260957,AY790940,CH471054,M12659,M14155,M14156,S85346,X03420,X03421,X03422,X03563,AB209184,AK312231,BC148266,BC152321,CR541861,M11568,M27544,M29644,M37484,U40870,X00173,X56773,X56774,X57025,GN335338 NP_000609,NP_001104753,NP_001104754,NP_001104755,AAO74829,AAV40833,EAW97695,EAW97696,EAW97697,EAW97698,AAA52538,AAA52537,AAB21519,CAA27152,CAA27153,CAA27154,CAA27250,BAD92421,BAG35164,AAI48267,AAI52322,CAG46659,AAA52539,AAA52787,AAA52543,AAA52789,AAA96152,CAA24998,CAA40092,CAA40093,CAA40342,P05019,Q13429,Q14620,Q59GC5,Q5U743,Q6LD41,Q9NP10,AAI60082,CAY39134 Hs.160562 IGF-I|IGF1A|IGFI IGF-IA|IGF-IB|MGF|OTTHUMP00000195082|OTTHUMP00000195084|insulin-like growth factor 1|insulin-like growth factor I|insulin-like growth factor IA|insulin-like growth factor IB|mechano growth factor|somatomedin-C 1643258,1643266,1643270,1643277,1643452,2289513 BW205_H,BW201_H,BW198_H,BW203_H,BW104_H,BW449_H protein-coding 68997 IGF1R insulin-like growth factor 1 receptor This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. [provided by RefSeq] 1626333,2311504,2306690,2311509,2311524,2311503,2311502,2311505,2311506,1624299,1580863,1581313,2317640,2317642,2317645,2317652,2317649,2317651,4142788 16619240,20417685,20670935,20009360,17307140,17296734,17277889,17264177,17196841,17164371,17145858,17097318,17066319,17065200,17063263,17044098,17016438,17014845,16983186,16981855,16981720,16962112,16891453,16831875,16827799,16805964,16804965,16793764,16750336,16648580,16647191,16595699,16584539,16407661,16382134,16362313,16344560,16328478,16181796,16172123,16127155,16087727,16053920,16037379,16035620,16000560,15954927,15932773,15921396,15914670,15878855,15867218,15820831,15805544,15797461,15689620,15671548,15638375,15629149,15623623,15595626,15564321,15522217,15489334,15472208,15358139,15345673,15334055,15324660,15256055,15254679,15253384,15205474,15181035,15146197,15127203,15059221,15043778,14973173,14769130,14764897,14744783,14737113,14729630,14726697,14722023,14710368,14710366,14710360,14710359,14710355,14710354,14697248,14691011,14684825,14657428,14654552,14651979,14633695,14627343,14615489,14597618,14575710,14559999,14551153,14522909,12937141,12884909,12876069,12843179,12821780,12820418,12784091,12771153,12730241,12697834,12644306,12634644,12613967,12603530,12593846,12556535,12493743,12483226,12482592,12477932,12444079,12379772,12220227,12198159,12147227,12138114,12127559,12105987,12031683,12019176,19064572,19033715,19020730,18992263,18949375,18938767,18931647,18832736,18829558,18788919,18768899,18766208,18723765,18711691,18708119,18693051,18676680,18660489,18636198,18636124,18632619,18616667,18611244,18599112,18593464,18566589,18562769,18538283,18537183,18535748,18508432,18492705,18491034,18483367,18477064,18469701,18458087,18452152,18451178,18418709,18413316,18349294,18316725,18267106,18263593,18249219,18216278,18196535,18178561,18095062,18079201,18079194,18064302,18059487,18050122,17975158,17972051,17956902,17918158,17899316,17898946,17846171,17786320,17766039,17761519,17724138,17649826,17640993,17634559,17627944,17620336,17586502,17568996,17560756,17525128,17524361,17486080,17442315,17418605,17349528,17320820,19124506,12005306,11956190,11884618,11867942,11782378,11754068,11724822,11694888,11591350,11463827,11445579,11423532,11316748,11250706,11120746,11094073,11071852,10747872,10655455,10644671,10358067,10026153,9972281,9857239,9852124,9745438,9727029,9642287,9581554,9553137,9524259,9506989,9492017,9491374,9480911,9415396,9389554,9355755,9111084,8999839,8940173,8889548,8875975,8776723,8764099,8697095,8662806,8648195,8621530,8550552,8530377,8247543,8111378,7895674,7642582,7559507,3107886,2948220,2877871,1852007,1851182,1850606,1711844,1316909,15103018,16113100,10082579,17047074,17353931,8626379,19759555,20397262,20620597,20104520,20818434,20927124,20395438,20713879,11448933,8452530,7541045,7679099,8710868,16886151,10829031,7692086,12138094,10749889,1846292,11162456,3003744,19453261,19406106,19391107,19381485,19330903,19318572,19241236,19240157,19190347,19176870,19153117,19139090,19136503,19124510,20389101,20592355,17406664,17419944,18683043,18762812,19170196,19351509,19423729,19460140,19473988,19488994,19500509,19509240,19524379,19545541,19578119,19582762,19584075,19625176,19657367,19658040,19664602,19669768,19672856,19679045,19680556,19692168,19703789,19713175,19749460,19767315,19806209,19812598,19817984,19834535,19835884,19838209,19843326,19853071,19855090,19874825,19877134,19950226,19966862,19996272,20061696,20061986,20078550,20080972,20103628,20103656,20103837,20119675,20131294,20145208,20154720,20178321,20179633,20193554,20200332,20201926,20204283,20233590,20302654,20351332,20357178,20360006,20403354,20416304,20417200,20452482,20453000,20504360,20432247,20736806,20837466,20881960,20847162,20569071,20734064,20800603,20819078,20935157,21046444,21047277,21048031,19913121,20347606,20580999,20587610,20628086,20634197,20644561,20673868 1626333,2311504,2306690,2311509,2311524,2311503,2311502,2311505,2311506,1624299,1581313,2317640,2317642,2317645,2317652,2317649,2317651,4142788 3480 NM_000875,NG_009492,AC055807,AC069029,AC118658,AC118660,AY332722,CH471101,CS238517,M69229,AB425196,AF020763,AK310188,AY429545,BC010607,BC078157,BC088377,BC107089,BC111046,BC113610,BC113612,BC143721,BM264223,BQ185364,BX093045,CN414655,CR624013,DA486252,DR007209,EU826611,EU826612,X04434 NP_000866,AAP81165,EAX02220,EAX02221,EAX02222,CAJ55819,AAB59399,BAG11657,AAB97676,AAI07090,AAI13611,AAI13613,AAI43722,ACF47647,ACF47648,CAA28030,O43467,P08069,Q3B833 Hs.643120,Hs.714012,Hs.653608 CD221|IGFIR|IGFR|JTK13|MGC142170|MGC142172|MGC18216 IGF-I receptor|insulin-like growth factor 1 receptor|insulin-like growth factor I receptor|soluble IGF1R variant 1|soluble IGF1R variant 2 protein-coding 737149 IGF2 insulin-like growth factor 2 (somatomedin A) This gene encodes a member of the insulin family of polypeptide growth factors that is involved in development and growth. It is an imprinted gene and is expressed only from the paternally inherited allele. It is a candidate gene for eating disorders. There is a read-through, INS-IGF2, which aligns to this gene at the 3' region and to the upstream INS gene at the 5' region. Alternatively spliced transcript variants, encoding either the same or different isoform, have been found for this gene. [provided by RefSeq] 1626333,2290454,2311513,2311523,2311512,2311502,2311511,2292665,2311520,1624301,1580863 20472480,19333718,19957330,20007505,19513555,19499149,19453261,19421925,19417744,19390492,19367319,19365888,19336370,19317253,19293570,19242102,19218281,19208780,19127217,19124506,19121847,19066168,19064572,19064563,19034281,18980977,18955703,18931647,18832656,18803353,18794369,18788888,18786438,18772331,18728168,19962924,20089431,20427254,20338046,20842449,16166779,1656956,12138094,1845984,10611375,8968759,6382022,11500939,12881524,8298652,19598235,19560381,19549920,19546867,18719053,18701505,18676680,18636124,18619647,18616667,18611974,18607558,18604514,18573128,18562769,18541649,18537183,18524796,18520331,18467708,18464243,18428028,18372285,18358696,18350600,18349294,18308616,18297687,18287964,18259111,18245780,18199734,18159214,18085551,18035699,18022169,18006818,17972051,17919721,17786320,17700581,17667841,17640993,17639583,17635080,17620336,17591929,17569086,17560154,17556377,17488802,17475626,17440932,17407457,17369847,17360667,17341887,17339271,17325026,17310846,17289909,17285535,17072986,17029194,16935391,16926156,16888814,16868148,16857788,16750516,16716263,16612114,16603642,16531418,16525660,16518847,16489075,16344718,16344560,16330588,16303743,16251897,16247461,15140223,15003992,14996863,14764950,14749349,14749262,14718574,14710345,14695992,14645508,14645199,14614750,13679437,12804776,12782403,12765950,12732844,12727212,12719950,12702581,12700030,12637750,12610512,12605037,12586351,12579496,12575534,12558805,12548223,12532445,12519841,12477932,12446294,12388463,12270940,12243757,12127559,12125963,12075589,12032304,12006706,12005306,11969341,11937266,11903044,11889182,11849996,11811790,11793026,11522816,11448941,11049980,10884343,10810289,10731720,10407151,10342887,10336724,10084601,9972281,9722981,9722589,9497324,9144427,8939990,8889548,8781553,8589713,8424751,7797478,7730145,7683646,7680905,7527339,6382021,6189745,3881277,3683205,3653397,3652904,3476948,3167054,3002851,2722836,2465304,2450353,1733942,1730789,1714916,1684848,16040806,16037384,16018936,15987847,15970649,15956340,15954927,15935984,15809062,15799974,15797461,15769738,15731405,15706404,15701574,15645136,15642732,15621215,15528386,15498874,15489334,15471867,15359740,15355996,15342556,15298990,15217931,15205474,15191555,15181035,15163116,16115888,16102992,1569071,658418,11749962,11600567,9446566,10512690,17294726,17554260,17632545,18481170,19170196,19207313,19276395,19407853,19427670,19502451,19584898,19588890,19625176,19672298,19692168,19713175,19724140,19737423,19749460,19767753,19769965,19843644,19876004,19919531,19924280,19938957,19948975,19950580,19953105,19956766,19956846,20027339,20042264,20057340,20119675,20157191,20388800,20403354,20403997,20416304,20452482,20453000,20468064,20483645,20206398,20651370,19259766,20479215,20637510,8385745,20010889,20418667,20661447,19586133,20540659,20443017,20937833,19689072,20734064,21078522,19786462,19913121,20564319,20628086,20634197,20639793,20673868 1626333,2290454,2311513,2311523,2311512,2311502,2311511,2292665,2311520,1624301 3481 NM_001127598,NM_000612,NG_008849,AC132217,AF517226,CH471158,M22373,X03425,X03426,X03427,X03562,X07868,AF318382,AK025719,AK074614,AK126688,AK313938,AY971350,BC000531,BC011786,BC042127,BC053318,BC073756,BE270173,BM667567,BP233290,BT007013,CR592114,CR594359,CR594851,CR601636,CR603060,CR605635,CR607507,CR607524,CR609976,CR614777,CR615897,CR620042,CR622488,CR623431,NM_001007139,HM481219,HM481220,CR624006,CR626475,DA641853,DQ104203,J03242,M17426,M17863,M29645,S77035,X00910,X06159,X06161,X06160,FB571441,GM741469 NP_001007140,NP_001121070,NP_000603,AAM51825,EAX02485,AAA52536,CAA27155,CAA27156,CAA27157,CAA27249,CAA30717,AAL55889,BAG54360,BAG36657,AAY40360,AAH00531,AAP35659,ADO21454,ADO21455,ABD93451,AAA52545,AAA60088,AAA52443,AAA52544,AAB34155,CAA25426,CAA29516,CAA29518,P01344,CAA29517,ABM83647,ABM86896,CAR95138,CAV31678 Hs.272259,Hs.718427 C11orf43|FLJ22066|FLJ44734|IGF-II|INSIGF|PP9974|pp9974 IGF-II|OTTHUMP00000220677|insulin-like growth factor 2|insulin-like growth factor II|insulin-like growth factor type 2|putative insulin-like growth factor II associated protein|somatomedin A|somatomedin-A protein-coding 1344250 IGF2AS insulin-like growth factor 2 antisense This gene expresses a paternally imprinted antisense transcript of the insulin-like growth factor 2 gene. The transcript is overexpressed in Wilms' tumor. This gene is predicted to be non-coding because the predicted protein is not conserved in any other species and the majority of transcripts would be candidates for non-sense mediated decay (NMD) if a protein were expressed. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 18676680,17289909,12702581,12603530,12477932,10731720,17554260,19170196,19625176,19692168,19767753,19948975,19913121,20564319,20628086,17632545,11181995,20819778 51214 NR_028043,NR_028044,AC132217,AY375532,CH471158,AB030733,AL521915,AL545164,AY149295,AY149296,BC136585,BC142634,CR595930,CR602283 Q7Z711,AAQ86595,EAX02487,BAA90470,AAP50262,AAP50263,AAI36586,AAI42635,Q6U949,EAX02484,EAX02486 Hs.716962 MGC168198|PEG8 miscrna 1606571 IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1 This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 9891060,17353931,18029348,19647520,19541769,19038974,18490442,18454174,18385235,18252897,17546046,17296566,17289661,17255263,17212783,17081983,16964243,16778892,16541107,16356927,16344560,16306994,16049158,15769738,15601260,15355996,15342556,15314207,15282548,15159028,15121863,14767552,14702039,12921532,12532419,12024010,11992722,11973350,10875929,10850408,9801297,8132663,20819778,20308539,20627640,17101699,17643375,19029303,19661680,19726068,19887615,20195514 10642 NM_006546,NM_001160423,AC091133,AC105030,CH471109,AF117106,AF198254,AK022617,AK022784,AK074915,AK095573,AK313229,BP238821,CR624172,DA758608,DQ227344 NP_006537,NP_001153895,EAW94693,EAW94694,EAW94695,EAW94696,AAD09826,AAF37203,BAG52029,BAG36040,ABB46294,Q9NZI8,AAI52771,AAI56958 Hs.144936 CRD-BP|CRDBP|IMP-1|IMP1|VICKZ1|ZBP1 IGF II mRNA binding protein 1|IGF-II mRNA-binding protein 1|IGF2 mRNA-binding protein 1|VICKZ family member 1|ZBP-1|coding region determinant-binding protein|insulin-like growth factor 2 mRNA-binding protein 1|zip code-binding protein 1|zipcode-binding protein 1 protein-coding 1606569 IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2 This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains several four KH domains and two RRM domains. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 9891060,12674497,17353931,15618018,19279076,19258437,19258404,19247372,19228808,19225753,19148120,19139842,19082521,19033397,19020324,19020323,19018773,19008344,19002430,18991055,18984664,18853134,18719881,18694974,18633108,18618095,18598350,18597214,18591388,18544707,18516622,18477659,18469204,18443202,18430866,18426861,18372903,18259684,18162508,17928989,17827400,17804762,17463249,17463248,17463246,17426251,17296566,16049158,15601260,15225648,12477932,10190901,20881960,19913121,20550665,20580033,20616309,20627640,20628086,20802253,17289661,17643375,18711366,19401414,19502414,19592620,19602701,19720844,19741166,19741467,19794065,19808892,19862325,19892838,19933996,20043145,20075150,20142250,20161779,20203524,20215779,20384434,20424228,20490451,20509872,20523342,20581827,20956565,20712903,20816152,20879858,20889853,20929593 10644 NG_011602,AC016961,AC108670,CH471052,AF117107,AI336648,AK290664,AK296703,AK309611,AW193691,BC021290,CD110066,EU408701,EU408702,EU408703,NM_001007225,NM_006548,EU408704,GN341812 EAW78209,EAW78210,EAW78211,AAD09827,BAF83353,BAG59297,AAH21290,ACB86625,ACB86626,ACB86627,NP_001007226,NP_006539,ACB86628,Q9Y6M1,ABM83087,ABW03490,CAY39325 Hs.35354 IMP-2|IMP2|VICKZ2|p62 IGF-II mRNA-binding protein 2|IGF2 mRNA-binding protein 2|VICKZ family member 2|hepatocellular carcinoma autoantigen p62|insulin-like growth factor 2 mRNA-binding protein 2 protein-coding 1606570 IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq] 17353931,20178612,18223334,9178771,9891060,19427669,19357927,19192721,19136932,19047899,18835627,18802962,18618724,18499984,18347170,18337447,18260086,18204432,17885673,17521698,17316760,17296566,17192788,16814207,16541107,16339295,16049158,15753088,15644775,15601260,15489334,12921532,12690205,12477932,12161597,11992722,11465943,10525192,19913121,20627640,20628086,17289661,17643375,18029348,19698973,20004948,20379614,20472848,20881960,19788446 10643 NM_006547,AC005082,AC021876,AC079780,CH236948,CH471073,AF117108,BC019258,BC051296,BC065269,BX640800,BX648488,U76705,U97188,CS805584 O00425,AAC35208,NP_006538,EAL24257,EAW93786,EAW93787,AAD09828,AAH65269,CAE45883,CAH56186,AAD09223,CAP40171 Hs.700696 CT98|DKFZp686F1078|IMP-3|IMP3|KOC1|VICKZ3 IGF II mRNA binding protein 3|IGF-II mRNA-binding protein 3|IGF2 mRNA-binding protein 3|KH domain containing protein overexpressed in cancer|KH domain-containing protein overexpressed in cancer|VICKZ family member 3|cancer/testis antigen 98|hKOC|insulin-like growth factor 2 mRNA-binding protein 3 protein-coding 732660 IGF2R insulin-like growth factor 2 receptor The protein encoded by this gene is a receptor for both, insulin-like growth factor 2 (IGF2) and mannose 6-phosphate (M6P). The IGF2 and M6P binding sites are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of IGF2. In mice, the homologous gene is expressed only from the maternal chromosome. [provided by RefSeq] 1298968,2311502,2311514,2311519,2311611,2311622,2311623,2311630,2311631,1581739,1624323,737793,1580863 20104244,20110184,20347606,20634197,20639793,20644561,20673868,10900005,18029348,19170196,19435860,19578796,19615732,19625176,19626700,19692168,19789190,20119675,20302654,20416304,20452482,20453000,10799489,7753549,15078902,19453261,19414391,19400954,19240061,19236480,19208780,19195023,19074885,19064572,19037107,19010793,18832656,18789384,18676680,18636124,18616667,18611974,18604514,18602895,18596235,18562769,18434368,18322954,18174267,18037232,17927214,17850746,17684144,17676485,17620336,17507477,17475626,17407457,17149973,17101778,17081983,17069798,16977309,16868148,16304558,16179614,16172012,15506681,15258139,15181035,15167696,15156403,15003389,14710346,14574404,12959977,12934103,12857727,12754519,12736721,12665524,12603530,12586773,12543777,12399424,12223346,12165733,12149131,12127559,12021353,12005306,11913773,11867533,11811790,11438990,11390366,11387476,11387475,11331585,11081635,10908666,10358067,9892739,9722981,9695949,9590177,9566979,9362483,9361090,8162705,7797478,7511544,7493029,2963003,2957598,1380437,1370435,10829017,12032303,11359012,15782153,8111387,8220428,8267611,20734064 1298968,2311502,2311514,2311519,2311611,2311622,2311623,2311630,2311631,1581739,1624323,737793 3482 NM_000876,NG_011785,AF069333,AF109291,AL035691,AL353625,AY293855,CH471051,AB209668,AK300848,J03528,Y00285 NP_000867,AAL04402,AAF16870,CAI19940,CAH72014,AAP37954,EAW47607,BAD92905,BAG62499,AAA59866,CAA68395,P11717,Q59EZ3,AAI72256 Hs.487062 CD222|CIMPR|M6P-R|MPR1|MPRI 300 kDa mannose 6-phosphate receptor|CI Man-6-P receptor|CI-MPR|IGF-II receptor|M6P/IGF2 receptor|M6P/IGF2R|M6PR|MPR 300|cation-independent mannose-6 phosphate receptor|cation-independent mannose-6-phosphate receptor|insulin-like growth factor II receptor 2289445,2314977,2314981,2314987,2314988,2314994,2314995,2314996 BW415_H,BW515_H,SLIPL24_H,SLEP23_H,INSUL38_H,INSUL40_H,GLUCO127_H,INSUL31_H protein-coding 68640 IGFALS insulin-like growth factor binding protein, acid labile subunit The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1626121,1626333,1624335,1580863 19170196,19207313,19625176,19729943,20142246,20155489,20302654,1379671,1384485,14718574,19453261,19129715,18676680,18463107,18362293,18349294,18303074,17726072,17546465,17063263,16404426,16344560,16335952,16114275,15616553,15126567,14762184,12477932,12364447,11914026,11591653,10823924,10650966,9786878,9497324,9446566,2473065,10512690,20734064,20591980,20634197,20810604 1626121,1626333,1624335 3483 NM_004970,NG_011778,NM_001146006,NR_027389,AC012180,AF192554,AL031724,CH471112,AK292182,AK303146,AK313198,AK315808,BC025681,DA642067,M86826 NP_004961,NP_001139478,AAF06774,CAC36078,EAW85612,BAF84871,BAG64250,BAG36014,BAF98699,AAH25681,AAA36047,P35858,Q8TAY0,ABM82460,ABM85649 Hs.839 ALS insulin-like growth factor binding protein complex acid labile chain|insulin-like growth factor-binding protein complex acid labile subunit protein-coding 69038 IGFBP1 insulin-like growth factor binding protein 1 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq] 1580863,1626333,2301716,2301715,1625238 18793810,19170196,19193607,19308628,19434535,19463807,19539506,19551864,19625176,19692168,19730683,19732896,19765076,19843326,19858071,19917654,19948975,20039319,20144192,20149700,20155489,20416304,20453000,20484221,20102313,20143870,2454104,19453261,19158202,19124510,19064572,18924579,18828733,18772238,18701096,18676680,18665784,18636124,18596909,18513511,18496669,18305566,18259111,18166823,17972510,17972051,17914103,17890489,17640761,17634530,17566087,17485842,17465992,17341623,17300730,17264182,17164371,17113753,17062566,17035411,16973813,16924115,16868142,16809446,16776662,16687408,16404426,16338475,16337840,16306374,16293667,16222695,16118248,16041536,16002526,15987847,15987820,15972819,15959422,15890677,15797461,15736102,15613433,15598684,15489334,15166120,15070959,15070833,14764802,14726451,14718574,14715837,14624764,14568572,12933666,12882925,12870155,12861174,12853948,12843192,12843178,12746836,12746292,12690205,12679458,12571183,12556485,12519841,12493691,12489207,12477932,12466191,12351482,12163461,12135130,12119297,12082253,12006706,11972304,11969341,11956162,11834727,11793026,11762714,11752456,11397868,11297622,11050672,10987657,10965886,10810289,10691413,10364674,10352394,10350456,10329650,9408744,8754754,7694877,7683525,7683522,7678248,7504269,3419931,2971653,2849945,2478445,2474129,2466665,2461294,2458522,2457513,1718783,1701175,1691735,1373120,10407151,12153746,12150454,20734064,20810604,21078522,17655506,20413521,20711952,19913121,20587581,20628086,20634197,20637724 1626333,2301716,2301715,1625238 3484 AV695706,CR616205,CR616234,CR616235,CR616351,CR616402,CR616424,CR616577,CR616674,CR616903,CR616959,CR617244,CR616079,CR617631,CR617806,CR617824,CR617913,CR617981,CR618103,CR618173,CR618294,CR618587,CR618725,CR618802,CR618972,CR619099,CR619129,CR619351,CR619516,CR619548,CR619565,CR619689,CR619896,CR619910,CR619921,CR620024,CR620278,CR620526,CR620546,CR621001,CR621476,CR621807,CR621967,CR621982,CR622062,CR622288,CR622311,CR622795,CR623462,CR623910,CR623952,CR624055,CR624100,CR624572,CR625190,CR625230,CR625382,CR625425,CR625430,CR625453,CR625654,CR625677,CR625686,CR625906,CR625916,CR625929,CR626019,CR626184,CR626214,CR626313,CR626530,CR626753,CR626850,FJ795026,M20841,M31145,X12385,X13405,X15002,Y00856,HC007038,HI179158,NM_000596,AC091524,AY434089,CH236958,CH471128,CS138146,M23592,M23593,M23594,M23595,M59316,M74587,AK314925,CR598846,CR598858,CR599338,CR599420,CR599505,CR599566,CR599693,CR599844,CR599914,CR600017,CR600132,CR600152,CR600677,CR600719,CR600747,CR600995,CR601164,CR601177,CR601473,CR601666,CR601760,CR602010,CR602077,CR602114,CR602158,CR602198,CR602277,CR602289,CR602661,CR602679,CR602685,CR603126,CR603129,CR603353,CR603560,CR603667,CR603723,CR603912,CR603923,CR604704,CR604841,CR605002,CR605113,CR605273,CR605451,CR605700,CR605762,CR605866,CR606006,CR606011,CR606129,CR606400,CR606620,CR606723,CR606856,CR606977,CR607108,CR607209,CR607229,CR607276,CR607496,CR607533,CR608231,CR608409,CR608815,CR609672,CR609679,CR609741,CR609768,CR609939,CR609990,CR610214,CR610351,CR610645,CR610858,CR610941,CR611438,CR611759,CR611770,CR611935,CR611997,CR612513,CR612646,CR612764,CR613214,CR613237,CR613310,CR613347,CR613395,CR614129,CR614193,CR614258,CR614303,CR614704,CR614706,CR614863,CR615008,CR615190,CR615567,CR615815,BC035263,BC057806,BT019685,CA429917,CR590296,CR590446,CR590810,CR590828,CR591020,CR591191,CR591333,CR591460,CR591493,CR591523,CR591646,CR592108,CR592210,CR592395,CR592435,CR592564,CR592840,CR592847,CR593064,CR593140,CR593474,CR593624,CR593681,CR593730,CR593732,CR593890,CR594263,CR594657,CR594876,CR594968,CR594970,CR594981,CR595235,CR595308,CR595377,CR595563,CR595722,CR595849,CR595859,CR595923,CR595943,CR595981,CR596031,CR596115,CR596125,CR596242,CR596353,CR596942,CR596959,CR596968,CR597423,CR597823,CR597836,CR597884,CR597940,CR598148,CR598241,CR598358,CR598506,CR615923 ACO37638,AAA52540,AAA52542,CAA30942,CAA31771,CAA33110,CAA68770,P08833,Q6PEY6,CBH19324,CBX53887,NP_000587,AAS07553,AAQ96599,EAL23800,EAW61030,EAW61031,CAJ21549,AAA52785,AAA52783,AAA52784,BAG37433,AAH35263,AAH57806,AAV38491 Hs.642938 AFBP|IBP1|IGF-BP25|PP12|hIGFBP-1 IBP-1|IGF-binding protein 1|IGFBP-1|OTTHUMP00000214348|OTTHUMP00000214349|alpha-pregnancy-associated endometrial globulin|amniotic fluid binding protein|binding protein-25|binding protein-26|binding protein-28|growth hormone independent-binding protein|insulin-like growth factor-binding protein 1|placental protein 12 protein-coding 737357 IGFBP2 insulin-like growth factor binding protein 2, 36kDa 1580863,1598911,1626512,1626492,1626482,1626333,1626478,1626479,1626481 19845745,11358513,19164435,19170196,19276395,19625176,19679880,19692168,19764562,19843326,19846739,19862325,19877176,19948975,19956906,20306690,20468064,19962924,20858761,15147770,2465304,19081843,19453261,19324937,19127217,19124510,19095771,19064572,18980989,18953566,18952587,18676680,18556354,18524796,18461161,18437351,18373644,18259111,18217408,18210156,18210030,17985932,17970029,17827400,17655506,17606927,17485236,17475624,17395163,17372210,17369847,17352648,17341887,17289850,17285230,17280861,17113753,17102589,17072950,17071580,17020769,16901920,16893667,16884361,16569642,16543235,16444283,16306230,16183342,15994346,15956340,15932773,15686601,15661050,15651061,15643522,15489334,15171717,14744083,14710363,14691340,12955485,12907597,12839944,12810534,12794762,12727212,12672024,12575534,12519841,12477932,12102164,12006706,11297622,11063745,10912521,9408744,9156044,8781553,8675597,7680905,7511544,2479552,1726837,1716260,1714916,1712312,1710112,1697583,1380437,1376411,15735679,10407151,20515648,20150439,20514406,20541521,20734064,20810604,20819778,20634197 1598911,1626512,1626492,1626482,1626333,1626478,1626479,1626481 3485 CR606610,CR606726,CR606776,CR607166,CR610845,CR611812,CR613919,CR614828,CR617002,CR618404,CR623237,CR624731,CR625396,CR625740,M35410,X16302,A09809,CR605199,NM_000597,AC007563,AC073321,AY398667,CH471063,M69241,S37730,AB209509,AL559513,BC004312,BC009902,BC012769,BC071967,CR590929,CR592781,CR593872,CR594311,CR595316,CR596315,CR601197,CR602232,CR603359,CR603558,CR603833,HI574226 AAA03246,CAA34373,P18065,Q59FF1,CAA00862,ABM84376,ABW03553,NP_000588,AAY14661,AAY15079,AAQ87876,EAW70573,AAA36048,AAB22308,BAD92746,AAH04312,AAH09902,AAH12769,AAH71967,CBX47602 Hs.438102 IBP2|IGF-BP53 IBP-2|IGF-binding protein 2|IGFBP-2|OTTHUMP00000207753|insulin-like growth factor binding protein 2|insulin-like growth factor-binding protein 2 protein-coding 736042 IGFBP3 insulin-like growth factor binding protein 3 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863,1626117,1626118,1626120,1626121,1626333,2313765,2313767,2290013,2290003,2290012,2290015,2313768,2313769,2290009,2290011,2290028,2290008,2290021,2290004,2290018,2301465,2301715,2301716,2289159,2313766,2301466,2301468,2313762,2301467 19960406,20051649,20102313,20423985,19004037,18992263,18992148,18984657,18929499,18818748,18812263,18676680,18636124,18624627,18618736,18615538,18602100,18596909,18562769,18534134,18498652,18471292,18459102,18450319,18398029,18375957,18335323,18329388,18287864,18259111,18178497,18177247,18171112,18163429,18162523,18084616,18059035,18031946,18006928,17997337,17972510,17959403,17957164,17952116,17912004,17879951,17827406,17823260,17763192,17761791,17724372,17719815,17689128,17668637,17655506,17635417,17627014,17624927,17597108,17593323,17567756,17566087,17560154,17555512,17546465,17457048,17453001,17447118,17446556,17434446,17396438,17388800,17350302,17300730,17297462,17293864,17289909,17287408,17264182,17237715,17210081,17187018,17172410,17119061,17113753,17096329,17085968,17070193,17063263,17056474,17051426,17047053,17044098,17035411,17018785,16969385,16965600,16935391,16915540,16887362,16825320,16793770,16776662,16775172,16763062,16723126,16645643,16617154,16614079,16552541,16543235,16541420,16540651,16489531,16489075,16455777,16448675,16404426,16394092,16335952,16322329,16306136,16303743,16275148,16215864,16211216,16210470,16189260,16189247,16181731,16049980,16030120,16015705,15987847,15986122,15959422,15941947,15927849,15894694,15894673,15844718,15817480,15809062,15802501,15800934,15781645,15769996,15734965,15703779,15681824,15668470,15661050,15651061,15642732,15642160,15641264,15641262,15625284,15517912,15489334,15448002,15379965,15340161,15302288,15298948,15282325,15247904,15247132,15221971,15198293,15178549,15140235,15126567,15086466,15070968,15069073,15067329,15066922,15059907,15047131,15014034,14760718,14751238,14744783,14710345,14702039,14693733,14674122,14644829,14598881,14597676,14576164,14561895,12962157,12937269,12926118,12925957,12907612,12870155,12865482,12853948,12810534,12810533,12735930,12730416,12725526,12690205,12590636,12575534,12571851,12571183,15485880,20357812,20427254,19786971,20501753,20599318,20801067,20734064,20860465,20920870,21078522,10766744,14576163,11940579,17591901,11971816,12599210,14718574,17434920,19527514,19492232,19491931,19453261,19414355,19258508,19240240,19223521,19217707,19194113,19158946,19129715,19127217,19124510,19124506,19121847,19077426,19064572,19064126,19036873,19020726,19019335,12519841,12508918,12506097,12477932,12473575,12242693,12220677,12219010,12213898,12210764,12200149,12163384,12150454,12135130,12127836,12122101,12111701,12068000,12054563,12051736,12011225,12006706,11997031,11959812,11953210,11948969,11914026,11914023,11886859,11804742,11801256,11784719,11762714,11751851,11749962,11600567,11375929,11344214,11319179,11297622,11264294,11238520,10874028,10849447,10811646,10770214,10650937,10512690,10511594,10407151,10352394,10226805,10218588,10076184,9688635,9497324,9446566,9408744,9389554,9337997,9275067,9252371,8964576,8843739,8708531,8675597,8550744,7566179,7538844,7523391,7508771,2464130,1697583,1695633,1383255,1373120,1293182,1280211,10823924,11095942,16169070,17577982,18410545,18481170,19138871,19170196,19190540,19207313,19257984,19332270,19449212,19455605,19477944,19509068,19540231,19551141,19551864,19556345,19568604,19588500,19591553,19596932,19625176,19633297,19634593,19672706,19692168,19734278,19764562,19784788,19789190,19800385,19833751,19846909,19858071,19917654,19919528,19938081,19941883,19944347,19948975,20003326,20023704,20039319,20084546,20099974,20119675,20121533,20144192,20145156,20155489,20204283,20215856,20228135,20302654,20350746,20403354,20416304,20453000,20468064,20484221,20540360,9388210,20307522,19845745,20378848,19863750,20613589,20851879,21076409,19786462,19913121,20219400,20513670,20580999,20587610,20628086,20628624,20634197,20677014,20810604 1626117,1626118,1626120,1626121,1626333,2313765,2313767,2290013,2290003,2290012,2290015,2313768,2313769,2290009,2290011,2290028,2290008,2290021,2290004,2290018,2301465,2301715,2301716,2289159,2313766,2301466,2301468,2313762,2301467 3486 NM_000598,NG_011508,AC091524,CH236958,CH471128,DQ301819,M35878,AF370418,AI142967,AK055632,AK056274,AK075483,AK091706,AK091745,AK092447,AK095408,AK095864,AK095869,AK095900,AK095907,AK095974,AK095991,AK097201,AK122873,AK123735,AK125224,AK127537,AK129951,AK130884,AK297767,NM_001013398,AK298143,AK315668,AL540642,AU102436,BC000013,BC018962,BC064987,BX640961,CR592956,CR595168,CR598830,CR603591,CR604414,CR605771,CR610513,CR613455,CR615539,CR617495,CR618433,CR619612,CR620276,CR621347,CR625907,DQ884396,DQ884397,DQ884398,M31159,S56205,X64875 NP_001013416,NP_000589,AAS07554,EAL23801,EAW61025,EAW61026,EAW61027,EAW61028,EAW61029,ABB96247,AAA52706,AAQ15254,BAG51662,BAG52153,BAG52402,BAG52410,BAG52553,BAG53151,BAG53162,BAG53182,BAG53189,BAG53771,BAG53948,BAG54169,BAC87023,BAG60115,BAG60419,BAG38033,AAH00013,AAH18962,AAH64987,ABI63363,ABI63364,ABI63365,AAA52541,CAA46087,P17936,Q6ZSD0,Q71RC0,ABM86270 Hs.450230 BP-53|IBP3 IBP-3|IGF-binding protein 3|IGFBP-3|OTTHUMP00000207992|OTTHUMP00000207994|OTTHUMP00000207995|acid stable subunit of the 140 K IGF complex|binding protein 29|binding protein 53|growth hormone-dependent binding protein|insulin-like growth factor-binding protein 3 protein-coding 69043 IGFBP4 insulin-like growth factor binding protein 4 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq] 1626333,1580863 12241545,19453261,19956906,1377672,19038974,19025658,17824980,17312271,17177834,17071580,17070193,16973813,16924115,16685432,16586492,16540175,15661050,15489334,15204833,15146551,15146197,15062981,14996716,14767471,14705967,12970325,12904166,12733722,12477932,12193384,12163000,11297622,11052994,9751498,9722589,9615225,9408744,9275067,9138096,8964576,8889548,8648179,7778269,7689953,7680905,7511544,7507078,1709585,1709161,1707125,1704481,1380437,1375185,1370941,7683646,11068878,10407151,20734064,20810604,20628624,20634197,20654748 1626333 3487 NM_001552,AC018629,AY442346,CH471152,U20982,Y12508,AK290810,AK304572,BC016041,BT019891,BT019892,BU683435,CN431519,CR603382,M38177,M62403 NP_001543,AAR05443,EAW60664,EAW60665,AAA62670,CAA73110,BAF83499,BAG65363,AAH16041,AAV38694,AAV38695,AAB06189,P22692 Hs.462998 BP-4|HT29-IGFBP|IBP4|IGFBP-4 IBP-4|IGF-binding protein 4|insulin-like growth factor-binding protein 4 protein-coding 732384 IGFBP5 insulin-like growth factor binding protein 5 1580863,1626120,1626121,1626333 10766744,15700281,7525452,14718574,19476635,19453261,19341485,19250630,18809517,18805800,18775916,18762576,18710598,18676680,18665784,18624948,18602100,18373644,18311789,18210156,18161051,18085517,17892529,17823924,17804819,17651454,17595320,17496250,17316888,17312271,17290407,17242174,17071587,17067554,16865675,16716263,16543235,16344560,16311053,16195401,16007340,15930103,15802501,15780948,15777798,15681824,15661050,15650232,15618969,15534875,15489334,15155755,15140223,15001525,14645245,12810534,12777377,12766061,12477932,12466191,12005306,11973331,11923300,11905402,11874691,11821401,11751588,11297622,11264294,11095942,10811646,10698186,10336724,9883900,9822601,9786878,9528953,9497324,9202242,9110174,8817691,8619474,7511611,7511544,1850258,1850257,1710112,1709938,20508032,20734064,20810604,20819778,20949447,16169070,10407151,1147105,18957933,19170196,19610136,19625176,19628764,19692168,19808657,19843326,19877176,19948051,19950226,20354179,20379614,20416304,20468064,20583135,20628624,20634197 1626120,1626121,1626333 3488 NM_000599,AC007563,AY534685,CH471063,CS138154,L27559,AF055033,AF147308,AK314992,AU132181,AV710460,BC008099,BC011453,BC018427,BC032366,BC039838,BC046102,BC073984,BC089383,BE795293,BM920595,BQ717583,BQ940805,BT019706,BT019707,CD679409,CR456809,DA691367,L27560,M62782,M65062,R71383 NP_000590,AAY14662,AAS16353,EAW70574,EAW70575,CAJ21553,AAA72051,AAC09368,BAG37488,AAH08099,AAH11453,AAH18427,AAV38512,AAV38513,CAG33090,AAA53505,AAD04730,P24593,Q8WV97,Q96HT5 Hs.607212 IBP5 IBP-5|IGF-binding protein 5|IGFBP-5|insulin-like growth factor-binding protein 5 protein-coding 735616 IGFBP6 insulin-like growth factor binding protein 6 1580863,1626333,2301712,2301717,2301715,2301708,2301716 19170196,19625176,19692168,19950226,18957410,7539002,10087296,19453261,18985860,18982452,20734064,20810604,10407151,18676680,18395833,18039785,17978469,17519236,16713569,15889232,15797461,15661050,15489334,15366928,15308688,14710364,12558805,12477932,12006706,11914024,11297622,11267670,10414596,10329650,9572875,7692907,7683646,7683540,7511544,2551732,2154495,1850258,1850257,1719383,1709161,1697583,20432455,19913121,20628086,20634197 1626333,2301712,2301717,2301715,2301708,2301716 3489 NM_002178,AC073573,AF297519,AJ006952,AY443494,CH471054,CS138156,AK313158,BC003507,BC005007,BC010162,BC011708,BQ925731,CB048388,CR541791,CR590705,M62402,M69054 NP_002169,AAG37059,CAA07346,AAR05445,EAW96664,CAJ21554,BAG35976,AAH03507,AAH05007,AAH10162,AAH11708,CAG46590,AAB06187,AAA88070,P24592,Q9H2B5,ABM83921,ABM87242 Hs.274313 IBP6 IBP-6|IGF binding protein 6|IGF-binding protein 6|IGFBP-6|insulin-like growth factor-binding protein 6 protein-coding 1314683 IGFBP7 insulin-like growth factor binding protein 7 1580863,1626516,1626565,1626551 21040219,8117260,8939990,19019211,18711401,18267069,17972510,17465992,17312390,17136345,17048309,16873698,16302002,15708897,15489334,15340161,15077158,14633696,14521955,12847218,12843194,12679483,12592389,12477932,12407018,12065244,11549700,10985926,10859029,10820148,10595934,10502291,9388210,9313760,19919630,19542015,9100611,7980422,7694637,7538673,20440262,20433702,18981723,19374835,19638426,19710688,19829302,20029996,20407444,20478260,20535151,20599521 1626516,1626565,1626551 3490 NM_001553,AC069307,AC111197,AY518539,CH471057,CS138158,AF540057,AK303915,AK316082,BC017201,BC066339,BT006654,CR599263,CR607474,CR612946,CR615138,CR619194,CR619713,CR626227,L19182,S75725 NP_001544,AAR89912,EAX05520,EAX05521,CAJ21555,AAN23122,BAG64844,BAH14453,AAH17201,AAH66339,AAP35300,AAA16187,AAB32370,Q16270 Hs.479808 AGM|FSTL2|IBP-7|IGFBP-7|IGFBP-7v|IGFBPRP1|MAC25|PSF|TAF IBP-7|IGF-binding protein 7|IGFBP-rP1|PGI2-stimulating factor|TAF|angiomodulin|insulin-like growth factor-binding protein 7|prostacyclin-stimulating factor|tumor-derived adhesion factor protein-coding 1313812 IGFBPL1 insulin-like growth factor binding protein-like 1 17884839,17634530,15845387 347252 NM_001007563,AL135785,CH471071,AK131521 NP_001007564,CAD13245,EAW58251,Q8WX77,AAI46372 Hs.349705 IGFBP-RP4|bA113O24.1 IGFBP-related protein 10|insulin-like growth factor binding protein related protein 4|insulin-like growth factor-binding protein-like 1|insulin-like growth factor-binding-related protein 4 protein-coding 1602630 IGFL1 IGF-like family member 1 IGFL1 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 19147602,16890402,15340161,12975309 374918 NM_198541,AC006262,AY359013,AY672111 NP_940943,AAQ89372,AAT77785,Q6UW32,AAI52956 Hs.546554 UNQ644 APRG644|insulin growth factor-like family member 1 protein-coding 1604232 IGFL2 IGF-like family member 2 IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 16890402,14702039,12975309,12477932 147920 NM_001002915,NM_001135113,AC007785,CH471126,AK093330,AK125754,AW009166,AY358692,AY672112,BC130490,BC130492 NP_001002915,NP_001128585,EAW57405,BAC86275,AAQ89055,AAT77786,AAI30491,AAI30493,Q6UWQ7 Hs.99376 UNQ645|VPRI645 insulin growth factor-like family member 2 protein-coding 1603833 IGFL3 IGF-like family member 3 IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 16890402,15340161,14702039,12975309,12477932 388555 NM_207393,AC007785,CH471126,AY358434,AY672113,BC130593,BC130597 NP_997276,EAW57403,EAW57404,AAQ88800,AAT77787,AAI30594,AAI30598,Q6UXB1,ADR82805 Hs.365496 UNQ483 RPRC483|insulin growth factor-like family member 3 protein-coding 1606353 IGFL4 IGF-like family member 4 IGFL4 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 16890402,14702039 444882 NM_001002923,AC007785,AY672114 NP_001002923,AAT77788,Q6B9Z1 Hs.531310 insulin growth factor-like family member 4 protein-coding 1606752 IGFN1 immunoglobulin-like and fibronectin type III domain containing 1 18756455,12477932,15385448,20379614 91156 AC103925,CH471067,AY245430,BC033185,BC131529,AL137493,NM_001164586,BC028184 EAW91347,EAW91348,EAW91349,AAO92932,AAI31530,Q86VF2,CAB70770,NP_001158058 Hs.519024 DKFZp434B1231|EEF1A2BP1 EEF1A2-binding protein 1|KY-interacting protein 1|OTTHUMP00000033847|eEF1A2 binding protein|immunoglobulin-like and fibronectin type III domain-containing protein 1 protein-coding 735342 IGH@ immunoglobulin heavy locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V, D, J, and C segments are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq] 19443409,19454496,19679010,20093404,20160358,20164537,20491880,19369625,19264231,19250848,19129688,18818706,18667363,18656697,18538438,17940204,16860443,16215945,16194898,15716988,15703784,15607820,15191563,15010366,14702039,12477932,12370427,12114543,9841928,9294139,7486559,6817141,6101209,3243276,3144456,2518659,19965626,20471030,20177145,20544842,20552631 3492 NG_001019,AB019437,AB019438,AB019439,AB019440,AB019441,AL122127,AL901608,AL928742,AL928761,AL928762,AL928765,AL928767,AL928768,AL928769,DQ535074 Q0ZCI1,Q6GMX6,Q6MZU6,Q6P089,Q96QR9,Q96QS0,ABG38437 DKFZp686C15213|IGH|IGH.1@|IGHDY1|MGC72071|MGC88774 immunglobulin heavy chain variable region|immunoglobulin heavy locus protein-coding 1346650 IGHA1 immunoglobulin heavy constant alpha 1 1580863 3493 P01876 J00220 1348714 IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) 1580863 3494 P01877 J00221 1350194 IGHD immunoglobulin heavy constant delta 3922054 3495 K02875 1345249 IGHD1-1 immunoglobulin heavy diversity 1-1 28510 X97051 1354042 IGHD1-14 immunoglobulin heavy diversity 1-14 28508 X13972 1351176 IGHD1-20 immunoglobulin heavy diversity 1-20 28507 X97051 1350759 IGHD1-26 immunoglobulin heavy diversity 1-26 28506 X97051 1349058 IGHD1-7 immunoglobulin heavy diversity 1-7 28509 X13972 1349991 IGHD1OR15-1A immunoglobulin heavy diversity 1/OR15-1A 28335 X55575 1353423 IGHD1OR15-1B immunoglobulin heavy diversity 1/OR15-1B 28334 X55576 1342526 IGHD2-15 immunoglobulin heavy diversity 2-15 28503 J00234 1354181 IGHD2-2 immunoglobulin heavy diversity 2-2 28505 J00232 1344020 IGHD2-21 immunoglobulin heavy diversity 2-21 28502 J00235 1345450 IGHD2-8 immunoglobulin heavy diversity 2-8 28504 X13972 1349984 IGHD2OR15-2A immunoglobulin heavy diversity 2/OR15-2A 28333 X55577 1354189 IGHD2OR15-2B immunoglobulin heavy diversity 2/OR15-2B 28332 X55578 1343093 IGHD3-10 immunoglobulin heavy diversity 3-10 28499 X13972 1345636 IGHD3-16 immunoglobulin heavy diversity 3-16 28498 X93614 1343339 IGHD3-22 immunoglobulin heavy diversity 3-22 28497 X93616 1346423 IGHD3-3 immunoglobulin heavy diversity 3-3 28501 X13972 1350367 IGHD3-9 immunoglobulin heavy diversity 3-9 28500 X13972 1347540 IGHD3OR15-3A immunoglobulin heavy diversity 3/OR15-3A 28331 X55579 1352575 IGHD3OR15-3B immunoglobulin heavy diversity 3/OR15-3B 28330 X55580 1352299 IGHD4-11 immunoglobulin heavy diversity 4-11 28495 X13972 1343733 IGHD4-17 immunoglobulin heavy diversity 4-17 28494 X97051 1349127 IGHD4-23 immunoglobulin heavy diversity 4-23 28493 X97051 1343295 IGHD4-4 immunoglobulin heavy diversity 4-4 28496 X13972 1346326 IGHD4OR15-4A immunoglobulin heavy diversity 4/OR15-4A 28329 X55581 1345433 IGHD4OR15-4B immunoglobulin heavy diversity 4/OR15-4B 28328 X55582 1343288 IGHD5-12 immunoglobulin heavy diversity 5-12 28491 X13972 1347741 IGHD5-18 immunoglobulin heavy diversity 5-18 28490 X97051 1345663 IGHD5-24 immunoglobulin heavy diversity 5-24 28489 X97051 1342624 IGHD5-5 immunoglobulin heavy diversity 5-5 28492 X13972 1347784 IGHD5OR15-5A immunoglobulin heavy diversity 5/OR15-5A 28327 X55583 1349051 IGHD5OR15-5B immunoglobulin heavy diversity 5/OR15-5B 2114977 28326,28326 AC037471,X55584,X55584 IGHD5OR155B pseudo 1345774 IGHD6-13 immunoglobulin heavy diversity 6-13 28487 X13972 1352860 IGHD6-19 immunoglobulin heavy diversity 6-19 28486 X97051 1345741 IGHD6-25 immunoglobulin heavy diversity 6-25 28485 X97051 1350749 IGHD6-6 immunoglobulin heavy diversity 6-6 28488 X13972 1343137 IGHD7-27 immunoglobulin heavy diversity 7-27 28484 J00256 1344397 IGHD@ immunoglobulin heavy diversity group 50648 1342512 IGHDOR15@ immunoglobulin heavy diversity orphans on chromosome 15 3496 735929 IGHE immunoglobulin heavy chain (epsilon polypeptide) 1580863 3497 P01854 J00222 1343761 IGHEP1 immunoglobulin heavy constant epsilon P1 pseudogene 6811139 3498 NG_001019,AL901608,J00223 pseudo 1347177 IGHEP2 immunoglobulin heavy constant epsilon P2 pseudogene 6964396,6327276 3499 NG_003254,AL161450,K01241 pseudo 1344505 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) 1580863 3500 P01857 J00228 1346969 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) 1580863 3501 P01859 J00230 1344522 IGHG3 immunoglobulin heavy constant gamma 3 (G3m marker) 1580863 6808505 3502 P01860 M12958 1346926 IGHG4 immunoglobulin heavy constant gamma 4 (G4m marker) 1580863 3503 P01861 K01316 1353476 IGHGP immunoglobulin heavy constant gamma P (non-functional) 3130612 3505 NG_001019,AL928761,AL928769,X06766 IGHGP1 pseudo 1343195 IGHJ1 immunoglobulin heavy joining 1 28483 J00256 1346458 IGHJ1P immunoglobulin heavy joining 1P pseudogene 6795593,6101209 28482 NG_001019,AL122127,J00256,X97051 J-psi-1|Jpsi1 pseudo 1345753 IGHJ2 immunoglobulin heavy joining 2 28481 J00256 1351196 IGHJ2P immunoglobulin heavy joining 2P pseudogene 6795593,6101209 28480 NG_001019,AL122127,J00256,X97051 Jpsi2 pseudo 1348500 IGHJ3 immunoglobulin heavy joining 3 28479 J00256 1348203 IGHJ3P immunoglobulin heavy joining 3P pseudogene 6795593,6101209 28478 NG_001019,AL122127,J00256,X97051 Jpsi3 pseudo 1345182 IGHJ4 immunoglobulin heavy joining 4 28477 J00256 1353534 IGHJ5 immunoglobulin heavy joining 5 28476 J00256 1344075 IGHJ6 immunoglobulin heavy joining 6 28475 J00256 1345981 IGHJ@ immunoglobulin heavy joining group 3506 1350926 IGHM immunoglobulin heavy constant mu 1580863 2115996 3507 P01871 X14940 68450 IGHMBP2 immunoglobulin mu binding protein 2 This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq] 737748,1580863 19157874,19299493,20031928,20441787,8349627,15231747,8493094,19158098,18802676,18187479,16964485,16752224,15797190,15599641,15290238,15106121,14702039,14681881,12547203,12477932,11528396,11292846,10049831,9507986,9439975,9110174,8619474,1714899 737748 3508 NM_002180,NG_007976,AP000808,CH471076,L24544,AB208802,AF052128,AK091539,AK123166,AK312565,BC000290,BC015666,BC025299,BC041808,BC052278,BC062312,BC080519,BC105088,BC105090,BE302389,DB448398,L14754,M64979 NP_002171,EAW74729,AAA70430,BAD92039,BAG35460,AAH00290,AAH25299,AAI05089,AAI05091,AAA53082,AAA58611,P38935 Hs.503048 CATF1|FLJ34220|FLJ41171|HCSA|HMN6|SMARD1|SMUBP2 ATP-dependent helicase IGHMBP2|DNA-binding protein SMUBP-2|GF-1|cardiac transcription factor 1|glial factor 1|immunoglobulin mu-binding protein 2 protein-coding 1347621 IGHR immunoglobulin heavy chain regulator 314310 8117 1348528 IGHV1-12 immunoglobulin heavy variable 1-12 pseudogene 3396540 28471 NG_001019,AB019440,X92210 1-12P|IGHV112 pseudo 1343395 IGHV1-14 immunoglobulin heavy variable 1-14 pseudogene 8490662 28470 NG_001019,AB019440,M99639 1-14P|IGHV114 pseudo 1348399 IGHV1-17 immunoglobulin heavy variable 1-17 pseudogene 8490662 28469 NG_001019,AB019440,M99640 1-17P|IGHV117 pseudo 1344964 IGHV1-18 immunoglobulin heavy variable 1-18 28468 M99641 1343919 IGHV1-2 immunoglobulin heavy variable 1-2 28474 X07448 1347610 IGHV1-24 immunoglobulin heavy variable 1-24 28467 M99642 1346480 IGHV1-3 immunoglobulin heavy variable 1-3 28473 X62109 1348342 IGHV1-45 immunoglobulin heavy variable 1-45 28466 X92209 1344951 IGHV1-46 immunoglobulin heavy variable 1-46 28465 X92343 1352108 IGHV1-58 immunoglobulin heavy variable 1-58 28464 M29809 1343652 IGHV1-67 immunoglobulin heavy variable 1-67 pseudogene 3396540 28463 NG_001019,AB019437,X92212 1-67P|IGHV167 pseudo 1346241 IGHV1-68 immunoglobulin heavy variable 1-68 pseudogene 9841928 28462 NG_001019,AB019437 1-68P|IGHV168 pseudo 1348898 IGHV1-69 immunoglobulin heavy variable 1-69 8469934 28461 L22582 1353470 IGHV1-8 immunoglobulin heavy variable 1-8 28472 M99637 1352686 IGHV1-C immunoglobulin heavy variable 1-C (provisional) 28460 Z18904 1353582 IGHV1-F immunoglobulin heavy variable 1-F (provisional) 28458 Z12305 1348025 IGHV1OR15-1 immunoglobulin heavy variable 1/OR15-1 pseudogene 2841108,7951227,7681398 388077 AC010760,Z29631 P23083 IGHV1/OR15-1|IGHV1OR151 pseudo 1345401 IGHV1OR15-2 immunoglobulin heavy variable 1/OR15-2 pseudogene 9847074,7959766 100287128 AC127381,L25543 IGHV1OR152 pseudo 1354167 IGHV1OR15-3 immunoglobulin heavy variable 1/OR15-3 pseudogene 8801417,7951227 646370 AC010760,Z29595 IGHV1OR153 pseudo 1349977 IGHV1OR15-4 immunoglobulin heavy variable 1/OR15-4 pseudogene 7951227 646379 AC025884,Z29596 IGHV1OR154 pseudo 1347404 IGHV1OR15-5 immunoglobulin heavy variable 1/OR15-5 pseudogene 7951227,3123998,1404388 100384884 Z12314,Z29633 CAA78184 IGHV1OR155 pseudo 1343504 IGHV1OR15-6 immunoglobulin heavy variable 1/OR15-6 pseudogene 7951227 28320 AC131280,Z29634 IGHV1OR156 pseudo 1346109 IGHV1OR15-9 immunoglobulin heavy variable 1/OR15-9 (non-functional) 9847074,7959766 651963 AC127381,L25542 AAA79020 IGHV1OR159 pseudo 1347538 IGHV1OR16-1 immunoglobulin heavy variable 1/OR16-1 pseudogene 7951227 28315 AC142381,NG_027716,Z29599 IGHV1OR161 pseudo 1345090 IGHV1OR16-2 immunoglobulin heavy variable 1/OR16-2 pseudogene 7951227 28314 Z29600 IGHV1OR162 pseudo 1346809 IGHV1OR16-3 immunoglobulin heavy variable 1/OR16-3 pseudogene 7951227 28313 Z29639 IGHV1OR163 pseudo 1353063 IGHV1OR16-4 immunoglobulin heavy variable 1/OR16-4 pseudogene 7951227 28312 Z17397 IGHV1OR164 pseudo 4752521 IGHV1OR21-1 immunoglobulin heavy variable 1/OR21-1 (non-functional) 10830953,1404388,3123998 390530 AF254982,NG_011680,X92282 A6NJS3 pseudo 1347037 IGHV2-10 immunoglobulin heavy variable 2-10 pseudogene 8490662 28456 NG_001019,AB019440,M99647 2-10P|IGHV210 pseudo 1352011 IGHV2-26 immunoglobulin heavy variable 2-26 28455 M99648 1343940 IGHV2-5 immunoglobulin heavy variable 2-5 28457 X62111 1347322 IGHV2-70 immunoglobulin heavy variable 2-70 28454 L21969 1342973 IGHV2OR16-5 immunoglobulin heavy variable 2/OR16-5 (non-functional) 7959766 100129631 AC142086,CH878714,L25544 EAW50869,AAA79021 IGHV2OR165 pseudo 1347525 IGHV3-11 immunoglobulin heavy variable 3-11 28450 M99652 1342657 IGHV3-13 immunoglobulin heavy variable 3-13 28449 X92217 1349268 IGHV3-15 immunoglobulin heavy variable 3-15 28448 X92216 1352635 IGHV3-16 immunoglobulin heavy variable 3-16 28447 M99655 1350977 IGHV3-19 immunoglobulin heavy variable 3-19 pseudogene 8490662 28446 NG_001019,AB019440,M99656 3-19P|IGHV319 pseudo 1346799 IGHV3-20 immunoglobulin heavy variable 3-20 28445 M99657 1348697 IGHV3-21 immunoglobulin heavy variable 3-21 28444 Z14073 1344900 IGHV3-22 immunoglobulin heavy variable 3-22 pseudogene 8490662 28443 NG_001019,AB019439,M99659 3-22P|IGHV322 pseudo 1348199 IGHV3-23 immunoglobulin heavy variable 3-23 28442 M99660 1348527 IGHV3-25 immunoglobulin heavy variable 3-25 pseudogene 8490662 28441 NG_001019,AB019439,M99661 3-25P|IGHV325 pseudo 1353560 IGHV3-29 immunoglobulin heavy variable 3-29 pseudogene 8490662 28440 NG_001019,AB019439,M99662 3-29P|IGHV329 pseudo 1343472 IGHV3-30 immunoglobulin heavy variable 3-30 28439 M83134 1346450 IGHV3-30-2 immunoglobulin heavy variable 3-30-2 pseudogene 9841928 28438 NG_001019,AB019439 3-30.2P|IGHV3302 pseudo 1344854 IGHV3-30-3 immunoglobulin heavy variable 3-30-3 57290 X92283 1352029 IGHV3-30-5 immunoglobulin heavy variable 3-30-5 89770 M83134 1351122 IGHV3-32 immunoglobulin heavy variable 3-32 pseudogene 8490662 28435 NG_001019,AB019439,M99664 3-32P|IGHV332 pseudo 1353105 IGHV3-33 immunoglobulin heavy variable 3-33 28434 L06618 1348003 IGHV3-33-2 immunoglobulin heavy variable 3-33-2 pseudogene 9841928 28433 NG_001019,AB019439 3-33.2P|IGHV3332 pseudo 1349084 IGHV3-35 immunoglobulin heavy variable 3-35 28432 M99666 1352462 IGHV3-36 immunoglobulin heavy variable 3-36 pseudogene 8490662 28431 NG_001019,AB019439,M99667 3-36P|IGHV336 pseudo 1343901 IGHV3-37 immunoglobulin heavy variable 3-37 pseudogene 8490662 28430 NG_001019,AB019439,M99668 3-37P|IGHV337 pseudo 1347017 IGHV3-38 immunoglobulin heavy variable 3-38 28429 M99669 1347203 IGHV3-41 immunoglobulin heavy variable 3-41 pseudogene 8490662 28428 NG_001019,AB019438,M99670 3-41P|IGHV341 pseudo 1350820 IGHV3-42 immunoglobulin heavy variable 3-42 pseudogene 8490662 28427 NG_001019,AB019438,M99671 3-42P|IGHV342 pseudo 1354279 IGHV3-43 immunoglobulin heavy variable 3-43 28426 M99672 1344678 IGHV3-47 immunoglobulin heavy variable 3-47 pseudogene 28425 Z18900,NG_001019,AB019438 CAA79337 3-47P|IGHV347 pseudo 1347962 IGHV3-48 immunoglobulin heavy variable 3-48 28424 M99675 1350036 IGHV3-49 immunoglobulin heavy variable 3-49 28423 M99676 1349926 IGHV3-50 immunoglobulin heavy variable 3-50 pseudogene 8490662 28422 NG_001019,AB019438,M99677 3-50P|IGHV350 pseudo 1343056 IGHV3-52 immunoglobulin heavy variable 3-52 pseudogene 8490662 28421 NG_001019,AB019438,M99678 3-52P|IGHV352 pseudo 1346658 IGHV3-53 immunoglobulin heavy variable 3-53 28420 M99679 1345313 IGHV3-54 immunoglobulin heavy variable 3-54 pseudogene 8490662 28419 NG_001019,AB019437,AB019438,M99680 3-54P|IGHV354 pseudo 1353392 IGHV3-57 immunoglobulin heavy variable 3-57 pseudogene 3097326 28418 NG_001019,AB019437,AB019438,M29815 3-57P|IGHV357 pseudo 1349278 IGHV3-6 immunoglobulin heavy variable 3-6 pseudogene 8490662 28453 NG_001019,AB019440,M99650 3-06P|IGHV36 pseudo 1348267 IGHV3-60 immunoglobulin heavy variable 3-60 pseudogene 3097326 28417 NG_001019,AB019437,AB019438,M29813 3-60P|IGHV360 pseudo 1353459 IGHV3-62 immunoglobulin heavy variable 3-62 pseudogene 3097326 28416 NG_001019,AB019437,M29814 3-62P|IGHV362 pseudo 1344815 IGHV3-63 immunoglobulin heavy variable 3-63 pseudogene 8490662 28415 NG_001019,AB019437,M99681 IGHV363|V3-63P pseudo 1343103 IGHV3-64 immunoglobulin heavy variable 3-64 28414 M99682 1345177 IGHV3-65 immunoglobulin heavy variable 3-65 pseudogene 7920635 28413 NG_001019,AB019437,Z27503 3-65P|IGHV365 pseudo 1349969 IGHV3-66 immunoglobulin heavy variable 3-66 28412 X92218 1349213 IGHV3-7 immunoglobulin heavy variable 3-7 28452 M99649 1346092 IGHV3-71 immunoglobulin heavy variable 3-71 pseudogene 9841928,7920635,1404388 28411 NG_001019,AB019437,Z12336,Z29985 3-71P|IGHV3-G|IGHV371|IGHV3G pseudo 1349216 IGHV3-72 immunoglobulin heavy variable 3-72 28410 X92206 1352640 IGHV3-73 immunoglobulin heavy variable 3-73 28409 Z27508 1354426 IGHV3-74 immunoglobulin heavy variable 3-74 28408 Z12353 1345151 IGHV3-75 immunoglobulin heavy variable 3-75 pseudogene 19913121,20628086,7920635 28407 NG_001019,AB019437,Z27510 3-75P|IGHV375 pseudo 1343224 IGHV3-76 immunoglobulin heavy variable 3-76 pseudogene 1404388 28406 NG_001019,AB019437,Z12341 3-76P|IGHV376 pseudo 1342713 IGHV3-79 immunoglobulin heavy variable 3-79 pseudogene 9841928 28405 NG_001019,AB019437 3-79P|IGHV379 pseudo 1348416 IGHV3-9 immunoglobulin heavy variable 3-9 28451 M99651 1349343 IGHV3-D immunoglobulin heavy variable 3-D (provisional) 28404 Z18898 1342573 IGHV3-G immunoglobulin heavy variable 3-G pseudogene (provisional) 1404388 28403 Z12336 IGHV3G pseudo 1350957 IGHV3-H immunoglobulin heavy variable 3-H (provisional) 16133446,7920635 28402,28402 Z29981,Z29981 CAA82871 IGHV3H pseudo 1350117 IGHV3OR15-7 immunoglobulin heavy variable 3/OR15-7 pseudogene 7951227 28318 Z29597 CAA82714 IGHV3OR157 pseudo 1350716 IGHV3OR16-10 immunoglobulin heavy variable 3/OR16-10 (non-functional) 7951227 28306 AC142086,Z29607 CAA82724 IGHV3OR1610 pseudo 1353123 IGHV3OR16-11 immunoglobulin heavy variable 3/OR16-11 pseudogene 7951227 28305 AC140658,Z29608 IGHV3OR1611 pseudo 1345362 IGHV3OR16-12 immunoglobulin heavy variable 3/OR16-12 (non-functional) 7951227 28304 AC136428,Z29609 CAA82726 IGHV3OR1612 pseudo 1347647 IGHV3OR16-13 immunoglobulin heavy variable 3/OR16-13 (non-functional) 7951227 28303 AC136428,Z29610 CAA82727 IGHV3OR1613 pseudo 1352012 IGHV3OR16-14 immunoglobulin heavy variable 3/OR16-14 pseudogene 7951227 100287372 AC136428,Z29611,NG_011771 IGHV3OR1614 pseudo 1349167 IGHV3OR16-15 immunoglobulin heavy variable 3/OR16-15 pseudogene 7959766 28301 AC140658,L25546 IGHV3OR1615 pseudo 1352619 IGHV3OR16-16 immunoglobulin heavy variable 3/OR16-16 pseudogene 7951227 28300 AC142086,Z29613 IGHV3OR1616 pseudo 1353699 IGHV3OR16-6 immunoglobulin heavy variable 3/OR16-6 pseudogene 7959766 647187 AC142086,L25545 IGHV3OR166 pseudo 1344354 IGHV3OR16-7 immunoglobulin heavy variable 3/OR16-7 pseudogene 7951227 28309 AC140658,Z29604 IGHV3OR167 pseudo 1349246 IGHV3OR16-8 immunoglobulin heavy variable 3/OR16-8 28308 Z29605 1352799 IGHV3OR16-9 immunoglobulin heavy variable 3/OR16-9 (non-functional) 7951227 28307 AC142381,Z29606 CAA82723 IGHV3OR169 pseudo 1342874 IGHV4-28 immunoglobulin heavy variable 4-28 28400 X05714 1348229 IGHV4-30-1 immunoglobulin heavy variable 4-30-1 28399 L10098 1345933 IGHV4-30-2 immunoglobulin heavy variable 4-30-2 8454861 28398 L10089 1350942 IGHV4-30-4 immunoglobulin heavy variable 4-30-4 28397 Z14238 1344694 IGHV4-31 immunoglobulin heavy variable 4-31 28396 L10098 1352297 IGHV4-34 immunoglobulin heavy variable 4-34 28395 X92278 1352456 IGHV4-39 immunoglobulin heavy variable 4-39 28394 L10094 1349744 IGHV4-4 immunoglobulin heavy variable 4-4 28401 X62112 1351387 IGHV4-55 immunoglobulin heavy variable 4-55 pseudogene 8490662 28393 NG_001019,AB019437,AB019438,M99685 4-55P|IGHV455 pseudo 1348956 IGHV4-59 immunoglobulin heavy variable 4-59 28392 L10088 1352591 IGHV4-61 immunoglobulin heavy variable 4-61 28391 M29811 1346822 IGHV4-80 immunoglobulin heavy variable 4-80 pseudogene 9841928 28390 NG_001019,AB019437 4-80P|IGHV480 pseudo 1350807 IGHV4-B immunoglobulin heavy variable 4-B (provisional) 28389 Z12367 1343362 IGHV4OR15-8 immunoglobulin heavy variable 4/OR15-8 28317 Z29598 1344364 IGHV5-51 immunoglobulin heavy variable 5-51 28388 M99686 1344683 IGHV5-78 immunoglobulin heavy variable 5-78 pseudogene 3396540,12477932,1373880,1903431 28387 NG_001019,AB019437,X92213,BC002792,X58398,X58399 AAH02792,CAA41297 Hs.81221 5-78P|IGHV578|MGC3963 pseudo 1349679 IGHV5-A immunoglobulin heavy variable 5-A (provisional) 28386 X92227 1352160 IGHV6-1 immunoglobulin heavy variable 6-1 28385 X92224 1344982 IGHV7-27 immunoglobulin heavy variable 7-27 pseudogene 8490662 28383 AB019439,M99643,NG_001019 7-27P|IGHV727 pseudo 1349724 IGHV7-34-1 immunoglobulin heavy variable 7-34-1 pseudogene 9841928 28382 NG_001019,AB019439 7-34.1P|IGHV7341 pseudo 1345574 IGHV7-4-1 immunoglobulin heavy variable 7-4-1 57289 L10057 1351214 IGHV7-40 immunoglobulin heavy variable 7-40 pseudogene 8490662 28381 NG_001019,AB019439,M99644 7-40P|IGHV740 pseudo 1347539 IGHV7-56 immunoglobulin heavy variable 7-56 pseudogene 3097326 28380 NG_001019,AB019437,AB019438,M29810 7-56P|IGHV756 pseudo 1351699 IGHV7-81 immunoglobulin heavy variable 7-81 28378 Z27509 1346861 IGHV@ immunoglobulin heavy variable group 1580863 1649888,3141924 3509 P01764 1350344 IGHVII-1-1 immunoglobulin heavy variable (II)-1-1 pseudogene 9841928 28377 NG_001019,AB019441 4-01.1P|IGHVII11 pseudo 1353411 IGHVII-15-1 immunoglobulin heavy variable (II)-15-1 pseudogene 9841928 28376 NG_001019,AB019440 4-15.1P|IGHVII151 pseudo 1352159 IGHVII-20-1 immunoglobulin heavy variable (II)-20-1 pseudogene 9841928 28375 NG_001019,AB019440 4-20.1P|IGHVII201 pseudo 1352214 IGHVII-22-1 immunoglobulin heavy variable (II)-22-1 pseudogene 9841928 28374 NG_001019,AB019439 4-22.1P|IGHVII221 pseudo 1343081 IGHVII-26-2 immunoglobulin heavy variable (II)-26-2 pseudogene 9841928 28373 NG_001019,AB019439 4-26.2P|IGHVII262 pseudo 1345337 IGHVII-28-1 immunoglobulin heavy variable (II)-28-1 pseudogene 9841928 28372 NG_001019,AB019439 4-28.1P|IGHVII281 pseudo 1343403 IGHVII-30-1 immunoglobulin heavy variable (II)-30-1 pseudogene 9841928 28371 NG_001019,AB019439 4-30.1P|IGHVII301 pseudo 1352213 IGHVII-31-1 immunoglobulin heavy variable (II)-31-1 pseudogene 9841928 28370 NG_001019,AB019439 BAA75041 4-31.1P|IGHVII311 pseudo 1354053 IGHVII-33-1 immunoglobulin heavy variable (II)-33-1 pseudogene 9841928 28369 NG_001019,AB019439 4-33.1P|IGHVII331 pseudo 1350523 IGHVII-40-1 immunoglobulin heavy variable (II)-40-1 pseudogene 9841928 28368 NG_001019,AB019438 4-40.1P|IGHVII401 pseudo 1350298 IGHVII-43-1 immunoglobulin heavy variable (II)-43-1 pseudogene 9841928 28367 NG_001019,AB019438 4-43.1P|IGHVII431 pseudo 1353840 IGHVII-44-2 immunoglobulin heavy variable (II)-44-2 pseudogene 9841928 28366 NG_001019,AB019438 4-44.2P|IGHVII442 pseudo 1347468 IGHVII-46-1 immunoglobulin heavy variable (II)-46-1 pseudogene 9841928 28365 NG_001019,AB019438 4-46.1P|IGHVII461 pseudo 1352185 IGHVII-49-1 immunoglobulin heavy variable (II)-49-1 pseudogene 9841928 28364 NG_001019,AB019438 4-49.1P|IGHVII491 pseudo 1343001 IGHVII-51-2 immunoglobulin heavy variable (II)-51-2 pseudogene 9841928 28363 NG_001019,AB019438 4-51.2P|IGHVII512 pseudo 1352222 IGHVII-53-1 immunoglobulin heavy variable (II)-53-1 pseudogene 9841928 28362 NG_001019,AB019438 4-53.1P|IGHVII531 pseudo 1353730 IGHVII-60-1 immunoglobulin heavy variable (II)-60-1 pseudogene 9841928 28361 NG_001019,AB019437 4-60.1P|IGHVII601 pseudo 1350113 IGHVII-62-1 immunoglobulin heavy variable (II)-62-1 pseudogene 9841928 28360 NG_001019,AB019437 4-62.1P|IGHVII621 pseudo 1353897 IGHVII-65-1 immunoglobulin heavy variable (II)-65-1 pseudogene 9841928 28359 NG_001019,AB019437 4-65.1P|IGHVII651 pseudo 1349091 IGHVII-67-1 immunoglobulin heavy variable (II)-67-1 pseudogene 9841928 28358 NG_001019,AB019437 4-67.1P|IGHVII671 pseudo 1342623 IGHVII-74-1 immunoglobulin heavy variable (II)-74-1 pseudogene 9841928 28357 NG_001019,AB019437 4-74.1P|IGHVII741 pseudo 1346536 IGHVII-78-1 immunoglobulin heavy variable (II)-78-1 pseudogene 9841928 28356 NG_001019,AB019437 4-78.1P|IGHVII781 pseudo 1354316 IGHVIII-11-1 immunoglobulin heavy variable (III)-11-1 pseudogene 9841928 28352 NG_001019,AB019440 3-11.1P|IGHVIII111 pseudo 1343818 IGHVIII-13-1 immunoglobulin heavy variable (III)-13-1 pseudogene 9841928 28351 AB019440,NG_001019 3-13.1P|IGHVIII131 pseudo 1346164 IGHVIII-16-1 immunoglobulin heavy variable (III)-16-1 pseudogene 9841928 28350 NG_001019,AB019440 3-16.1P|IGHVIII161 pseudo 1351788 IGHVIII-2-1 immunoglobulin heavy variable (III)-2-1 pseudogene 9841928 28355 NG_001019,AB019441 3-02.1P|IGHVIII21 pseudo 1349609 IGHVIII-22-2 immunoglobulin heavy variable (III)-22-2 pseudogene 9841928 28349 NG_001019,AB019439 3-22.2P|IGHVIII222 pseudo 1348317 IGHVIII-25-1 immunoglobulin heavy variable (III)-25-1 pseudogene 9841928 28348 NG_001019,AB019439 3-25.1P|IGHVIII251 pseudo 1351840 IGHVIII-26-1 immunoglobulin heavy variable (III)-26-1 pseudogene 9841928 28347 NG_001019,AB019439 3-26.1P|IGHVIII261 pseudo 1353669 IGHVIII-38-1 immunoglobulin heavy variable (III)-38-1 pseudogene 9841928 28346 NG_001019,AB019439 3-38.1P|38-1|IGHVIII381 pseudo 1352642 IGHVIII-44 immunoglobulin heavy variable (III)-44 pseudogene 8490662 28345 NG_001019,AB019438,M99673 3-44P|IGHVIII44 pseudo 1351752 IGHVIII-47-1 immunoglobulin heavy variable (III)-47-1 pseudogene 9841928 28344 NG_001019,AB019438 3-47.1P|IGHVIII471 pseudo 1346545 IGHVIII-5-1 immunoglobulin heavy variable (III)-5-1 pseudogene 9841928 28354 NG_001019,AB019440 3-05.1P|IGHVIII51 pseudo 1343316 IGHVIII-5-2 immunoglobulin heavy variable (III)-5-2 pseudogene 9841928 28353 NG_001019,AB019440 3-05.2P|IGHVIII52 pseudo 1351684 IGHVIII-51-1 immunoglobulin heavy variable (III)-51-1 pseudogene 9841928 28343 NG_001019,AB019438 3-51.1P|IGHVIII511 pseudo 1347559 IGHVIII-67-2 immunoglobulin heavy variable (III)-67-2 pseudogene 9841928 28342 NG_001019,AB019437 3-67.2P|IGHVIII672 pseudo 1350346 IGHVIII-67-3 immunoglobulin heavy variable (III)-67-3 pseudogene 9841928 28341 NG_001019,AB019437 3-67.3P|IGHV(III)-6|IGHVIII673 pseudo 1353158 IGHVIII-67-4 immunoglobulin heavy variable (III)-67-4 pseudogene 9841928 28340 NG_001019,AB019437 3-67.4P|IGHVIII674 pseudo 1342992 IGHVIII-76-1 immunoglobulin heavy variable (III)-76-1 pseudogene 9841928 28339 NG_001019,AB019437 3-76.1P|IGHVIII761 pseudo 1348621 IGHVIII-82 immunoglobulin heavy variable (III)-82 pseudogene 9841928 28338 NG_001019,AB019437 3-82P|IGHVIII82 pseudo 1349016 IGHVIV-44-1 immunoglobulin heavy variable (IV)-44-1 pseudogene 9841928 28337 NG_001019,AB019438 (IV)-44|4-44.1P|IGHVIV441 pseudo 1351217 IGHVOR15@ immunoglobulin heavy variable orphans on chromosome 15 7829065 3510 1342980 IGHVOR16@ immunoglobulin heavy variable orphans on chromosome 16 7829065,7959766 3511 1320892 IGJ immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 1580863 20237496,2984306,14718574,16740002,16335952,15342556,15084671,12477932,8683109,8666793,8253928,8196286,8168154,7664491,6774844,6417260,3146624,3016707,2415140,2120591,2113434,1472500,1292512,407930,115892 3512 NM_144646,AC009570,CH471057,M12759,AK312014,BC038982,BP221304,BP261870,BP418109,DQ884395,HD066556 NP_653247,EAX05626,AAA58902,BAG34952,AAH38982,ABI63362,P01591,CBU30463 Hs.715953,Hs.643431 IGCJ|JCH OTTHUMP00000216416|OTTHUMP00000219133|OTTHUMP00000219134|OTTHUMP00000219135|immunoglobulin J chain protein-coding 1353698 IGJP1 immunoglobulin J polypeptide pseudogene 1 7916122 3513 NG_009863,AC142447,S74134 pseudo 1342699 IGK@ immunoglobulin kappa locus 12100030,19072568,17600686,17546032,16622520,16508097,15517630,15356136,12615002,12552516,12477932,20505143 50802 AP001246,AP001248,AP001249,AK129807,BC016380,BC030813,BC032451,BC062704,CR609605,NG_000833,AC009958,AC073416,AC096579,AC096767,AC110080,AC113612,AC116654,AP001209,AP001210,AP001211,AP001212,AP001213,AP001215,AP001216,AP001217,AP001218,AP001219,AP001220,AP001221,AP001222,AP001223,AP001224,AP001225,AP001226,AP001228,AP001229,AP001230,AP001231,AP001232,AP001233,AP001235,AP001236,AP001238,AP001239,AP001240,AP001241,AP001242,AP001243,AP001244,AP001245,NG_000834,AC233264 BAC85236,AAH16380,AAH30813,AAH32451,AAH62704,Q6P5S8,Q6PJF2,AAY24201,AAY14814 Hs.449621 FLJ26296|IGK|IGKC|MGC22645|MGC27376|MGC40426|MGC71990 immunoglobulin kappa locus protein-coding 1345887 IGKC immunoglobulin kappa constant 1580863 10354514 3514 P01834 J00241 1353657 IGKDEL immunoglobulin kappa deleting element or like 3086844 3515 X03957 1353506 IGKJ1 immunoglobulin kappa joining 1 28950 J00242 1344808 IGKJ2 immunoglobulin kappa joining 2 28949 J00242 1343953 IGKJ3 immunoglobulin kappa joining 3 28948 J00242 1350357 IGKJ4 immunoglobulin kappa joining 4 28947 J00242 1349186 IGKJ5 immunoglobulin kappa joining 5 28946 J00242 1351180 IGKJ@ immunoglobulin kappa joining group 7842 1346316 IGKV1-12 immunoglobulin kappa variable 1-12 28940 V01577 1348867 IGKV1-13 immunoglobulin kappa variable 1-13 28939 Z00010 1350693 IGKV1-16 immunoglobulin kappa variable 1-16 28938 J00248 1353950 IGKV1-17 immunoglobulin kappa variable 1-17 28937 X72808 1606309 IGKV1-22 immunoglobulin kappa variable 1-22 pseudogene 8011175 28936 NG_000834,AC110080,AP001222,AP001243 A25|IGKV122 pseudo 1348888 IGKV1-27 immunoglobulin kappa variable 1-27 28935 X63398 1606310 IGKV1-32 immunoglobulin kappa variable 1-32 pseudogene 8011175 28934 NG_000834,AC110080,AP001219,AP001226 A15|A15a|IGKV132 pseudo 1348598 IGKV1-33 immunoglobulin kappa variable 1-33 28933 M64856 1353789 IGKV1-35 immunoglobulin kappa variable 1-35 pseudogene 8011175 28932 NG_000834,AC110080,AP001217,X71890 IGKV135|O16 pseudo 1347935 IGKV1-37 immunoglobulin kappa variable 1-37 28931 X59316 1353503 IGKV1-39 immunoglobulin kappa variable 1-39 28930 X59315 1346135 IGKV1-5 immunoglobulin kappa variable 1-5 1580863 28299 P01602 Z00001 1353729 IGKV1-6 immunoglobulin kappa variable 1-6 28943 M64858 1348780 IGKV1-8 immunoglobulin kappa variable 1-8 28942 Z00014 1346056 IGKV1-9 immunoglobulin kappa variable 1-9 28941 Z00013 1346046 IGKV1D-12 immunoglobulin kappa variable 1D-12 28903 X17263 1348481 IGKV1D-13 immunoglobulin kappa variable 1D-13 28902 X17262 1345259 IGKV1D-16 immunoglobulin kappa variable 1D-16 28901 K01323 1347822 IGKV1D-17 immunoglobulin kappa variable 1D-17 28900 X63392 1606559 IGKV1D-22 immunoglobulin kappa variable 1D-22 11298326,8011175 28899 NG_000833,AC009958,AP001232 A9|IGKV1D22 pseudo 1343491 IGKV1D-27 immunoglobulin kappa variable 1D-27 11298326,6087279 28898 AC233264,NG_000833,AC009958,AP001216,AP001224,Z00004 A4|A4a|IGKV1D27 pseudo 1606560 IGKV1D-32 immunoglobulin kappa variable 1D-32 11298326 28897 AC233264,NG_000833,AC009958,AP001220,AP001235 IGKV1D32|O9 pseudo 1346586 IGKV1D-33 immunoglobulin kappa variable 1D-33 28896 M64855 1351934 IGKV1D-35 immunoglobulin kappa variable 1D-35 pseudogene 11298326 28895 NG_000833,AC009958,AP001220,X71894,AC233264 IGKV1D35|O6 pseudo 1350906 IGKV1D-37 immunoglobulin kappa variable 1D-37 28894 X71893 1346160 IGKV1D-39 immunoglobulin kappa variable 1D-39 28893 X59312 1343408 IGKV1D-42 immunoglobulin kappa variable 1D-42 28892 X72816 1352839 IGKV1D-43 immunoglobulin kappa variable 1D-43 28891 X72817 1352280 IGKV1D-8 immunoglobulin kappa variable 1D-8 28904 Z00008 1602135 IGKV1OR-1 immunoglobulin kappa variable 1/OR-1 pseudogene 2853098 3531 M20813 IGKV1/OR-1|IGKV1OR1|IGKVPZ1 pseudo 1353188 IGKV1OR-2 immunoglobulin kappa variable 1/OR-2 pseudogene 1596359 3532 NG_011657,AL359955,X64640 IGKV1/OR-2|IGKV1OR2|IGKVPZ2 pseudo 1352379 IGKV1OR-3 immunoglobulin kappa variable 1/OR-3 pseudogene 1596359 644731 XM_927829,BX284632,X64641 XP_932922 IGKV1/OR-3|IGKV1OR3|IGKVPZ3 pseudo 1347385 IGKV1OR-4 immunoglobulin kappa variable 1/OR-4 pseudogene 1596359 3534 X64642 IGKV1/OR-4|IGKV1OR4|IGKVPZ4 pseudo 1345957 IGKV1OR1-1 immunoglobulin kappa variable 1/OR1-1 pseudogene 2853099 3525 NG_011766,M20809 AAA36094 IGKV1/OR1-1|IGKV1OR11|IGKVP1 pseudo 1350476 IGKV1OR15-118 immunoglobulin kappa variable 1/OR15-118 pseudogene 2853099 339562 XM_001713985,NG_011659,AC018696,M20812 XP_001714037,AAA36095 Hs.449972 IGKV1OR118|IGKVP2 pseudo 1342629 IGKV1OR2-0 immunoglobulin kappa variable 1/OR2-0 28867 Y08392 1342671 IGKV1OR2-108 immunoglobulin kappa variable 1/OR2-108 28862 X51887 1344205 IGKV1OR2-11 immunoglobulin kappa variable 1/OR2-11 pseudogene 2111145 28863 X51885 IGKV1OR211 pseudo 1354448 IGKV1OR2-3 immunoglobulin kappa variable 1/OR2-3 pseudogene 3037085 28866 X05102 IGKV1/OR2-3|IGKV1OR23 pseudo 1352698 IGKV1OR2-6 immunoglobulin kappa variable 1/OR2-6 pseudogene 3037085 28865 X05103 IGKV1/OR2-6|IGKV1OR26 pseudo 1353773 IGKV1OR2-9 immunoglobulin kappa variable 1/OR2-9 pseudogene 2111145 28864 X51879 IGKV1/OR2-9|IGKV1OR29 pseudo 1346651 IGKV1OR22-1 immunoglobulin kappa variable 1/OR22-1 pseudogene 3083265 3530 NG_011658,AC006548,Z00040 IGKV1OR221|IGKVP5 pseudo 1348301 IGKV1OR22-5 immunoglobulin kappa variable 1/OR22-5 6087279 28850 Z00003 3029189 IGKV1ORY-1 immunoglobulin kappa variable 1/ORY-1 pseudogene 9847074 439957 AC134879,XM_001714338,XM_001716705 XP_001714390,XP_001716757 IGKV1/ORY-1 pseudo 1353891 IGKV2-10 immunoglobulin kappa variable 2-10 pseudogene 6086934 28928 NG_000834,AC096767,AP001209,AP001231,Z00012 IGKV210|L7 pseudo 1353601 IGKV2-14 immunoglobulin kappa variable 2-14 pseudogene 8223863 28927 NG_000834,AC116654,AP001228,X72810 IGKV214|L3 pseudo 1351012 IGKV2-18 immunoglobulin kappa variable 2-18 pseudogene 1551402 28926 NG_000834,AC116654,AP001243,X63400 A29|IGKV218 pseudo 1349374 IGKV2-19 immunoglobulin kappa variable 2-19 pseudogene 3351922 28925 NG_000834,AC116654,AP001243,X12692 A28|IGKV219 pseudo 1606311 IGKV2-23 immunoglobulin kappa variable 2-23 pseudogene 8011175 28924 NG_000834,AC110080,AP001222,AP001243 A24|IGKV223 pseudo 1348441 IGKV2-24 immunoglobulin kappa variable 2-24 28923 X12684 1342503 IGKV2-26 immunoglobulin kappa variable 2-26 pseudogene 17847085,8011175 28922 NG_000834,AC110080,AP001222,AP001238,X71884 A21|IGKV226 pseudo 1349377 IGKV2-28 immunoglobulin kappa variable 2-28 28921 X63397 1354436 IGKV2-29 immunoglobulin kappa variable 2-29 (gene/pseudogene) 1551402 28920 NG_000834,AC110080,AP001226,X63396 A18|A18b|IGKV229 pseudo 1349568 IGKV2-30 immunoglobulin kappa variable 2-30 28919 X63403 1347129 IGKV2-36 immunoglobulin kappa variable 2-36 pseudogene 8011175 28918 NG_000834,AC110080,AP001217,X71889 IGKV236|O15 pseudo 1349614 IGKV2-38 immunoglobulin kappa variable 2-38 pseudogene 8011175 28917 NG_000834,AC110080,AP001239,X71888 IGKV238|O13 pseudo 1352208 IGKV2-4 immunoglobulin kappa variable 2-4 pseudogene 8223863 28929 NG_000834,AC096767,AP001240,X72814 CAA51333 IGKV24|L13 pseudo 1347989 IGKV2-40 immunoglobulin kappa variable 2-40 28916 X59314 1346744 IGKV2D-10 immunoglobulin kappa variable 2D-10 pseudogene 11298326,8223863,3927006 28890 NG_000833,AC073416,AP001210,AP001223,X17265 IGKV2D10|L21 pseudo 1345468 IGKV2D-14 immunoglobulin kappa variable 2D-14 pseudogene 11298326,8223863 28889 NG_000833,AC073416,AP001213,X72811 IGKV2D14|L17 pseudo 1353283 IGKV2D-18 immunoglobulin kappa variable 2D-18 pseudogene 11298326,1551402 28888 NG_000833,AC009958,AP001212,AP001236,X63395 A13|IGKV2D18 pseudo 1353585 IGKV2D-19 immunoglobulin kappa variable 2D-19 pseudogene 11298326,8011175 28887 NG_000833,AC009958,AP001212,AP001236,X71882 A12|IGKV2D19 pseudo 1606561 IGKV2D-23 immunoglobulin kappa variable 2D-23 pseudogene 11298326,8011175 28886 NG_000833,AC009958,AP001232 A8|IGKV2D23 pseudo 1354043 IGKV2D-24 immunoglobulin kappa variable 2D-24 28885 X63401 1342921 IGKV2D-26 immunoglobulin kappa variable 2D-26 11298326,3351922 28884 NG_000833,AC009958,AP001216,X12689,AC233264 A5|IGKV2D26 pseudo 1349736 IGKV2D-28 immunoglobulin kappa variable 2D-28 28883 X12691 1353346 IGKV2D-29 immunoglobulin kappa variable 2D-29 28882 M31952 1349672 IGKV2D-30 immunoglobulin kappa variable 2D-30 28881 X63402 1606562 IGKV2D-36 immunoglobulin kappa variable 2D-36 pseudogene 11298326,8011175 28880 NG_000833,AC009958,AP001221,AC233264 IGKV2D36|O5 pseudo 1353082 IGKV2D-38 immunoglobulin kappa variable 2D-38 pseudogene 11298326,8011175 28879 NG_000833,AP001221,X71892,AC233264 IGKV2D38|O3 pseudo 1348984 IGKV2D-40 immunoglobulin kappa variable 2D-40 28878 X59311 1345030 IGKV2OR2-1 immunoglobulin kappa variable 2/OR2-1 pseudogene 8011175,3037085 28861 X05101,X76074 IGKV2/OR2-1|IGKV2OR2-1A|IGKV2OR21|IGKV2OR21A pseudo 1348675 IGKV2OR2-10 immunoglobulin kappa variable 2/OR2-10 pseudogene 2111145 28855 AC092683,NG_011661,AC159540,X51886 IGKV2OR210 pseudo 1343795 IGKV2OR2-2 immunoglobulin kappa variable 2/OR2-2 pseudogene 2111145 28859 AC018892,X51884 IGKV2/OR2-2|IGKV2OR22 pseudo 1350358 IGKV2OR2-4 immunoglobulin kappa variable 2/OR2-4 pseudogene 2111145 28858 X51883 IGKV2/OR2-4|IGKV2OR24 pseudo 1353656 IGKV2OR2-7 immunoglobulin kappa variable 2/OR2-7 pseudogene 2111145 652873 NG_011671,AC159540,X51881,AC092683 IGKV2/OR2-7|IGKV2OR27 pseudo 3398733 IGKV2OR2-7D immunoglobulin kappa variable 2/OR2-7D pseudogene 100310869 AC092683 pseudo 1351765 IGKV2OR2-8 immunoglobulin kappa variable 2/OR2-8 pseudogene 2111145 28856 NG_011662,AC159540,X51880 IGKV2/OR2-8|IGKV2OR28 pseudo 1345359 IGKV2OR22-3 immunoglobulin kappa variable 2/OR22-3 pseudogene 3083265 3529 NG_011670,AC006548,Z00041 IGKV2OR223|IGKVP4 pseudo 1351147 IGKV2OR22-4 immunoglobulin kappa variable 2/OR22-4 pseudogene 2853099 28847 AC006548,M20707,NG_011660 AAA36093 IGKV2OR224|IGKVP6 pseudo 1353908 IGKV3-11 immunoglobulin kappa variable 3-11 28914 X01668 1349622 IGKV3-15 immunoglobulin kappa variable 3-15 28913 M23090 1345528 IGKV3-20 immunoglobulin kappa variable 3-20 28912 X12686 1343856 IGKV3-25 immunoglobulin kappa variable 3-25 pseudogene 2825139 28911 NG_000834,AC110080,AP001222,AP001238,X06583 A22|IGKV325 pseudo 1606312 IGKV3-31 immunoglobulin kappa variable 3-31 pseudogene 8011175 28910 NG_000834,AC110080,AP001219,AP001226 A16|A16a|IGKV331 pseudo 1348791 IGKV3-34 immunoglobulin kappa variable 3-34 pseudogene 8011175 28909 NG_000834,AC110080,AP001217,X71891 IGKV334|O17 pseudo 1353867 IGKV3-7 immunoglobulin kappa variable 3-7 28915 X02725 1348489 IGKV3D-11 immunoglobulin kappa variable 3D-11 28876 X17264 1349711 IGKV3D-15 immunoglobulin kappa variable 3D-15 28875 X72815 1343767 IGKV3D-20 immunoglobulin kappa variable 3D-20 28874 X12687 1346075 IGKV3D-25 immunoglobulin kappa variable 3D-25 pseudogene 11298326,8011175 28873 NG_000833,AC009958,AP001216,X71886,AC233264 A6|IGKV3D25 pseudo 1606563 IGKV3D-31 immunoglobulin kappa variable 3D-31 pseudogene 11298326 28872 NG_000833,AC009958,AP001220,AP001235,AC233264 IGKV3D31|O10 pseudo 1348180 IGKV3D-34 immunoglobulin kappa variable 3D-34 pseudogene 11298326 28871 NG_000833,AC009958,AP001220,X71895,AC233264 IGKV3D34|O7 immunoglobulin kappa variable 1d-34|immunoglobulin kappa variable 3D-34 pseudo 1351936 IGKV3D-7 immunoglobulin kappa variable 3D-7 28877 X72820 1351330 IGKV3OR2-268 immunoglobulin kappa variable 3/OR2-268 7959772 3523 X74459 1348328 IGKV3OR2-5 immunoglobulin kappa variable 3/OR2-5 pseudogene 2111145 28854 X51882 IGKV3/OR2-5|IGKV3OR25 pseudo 1348380 IGKV3OR22-2 immunoglobulin kappa variable 3/OR22-2 pseudogene 3083265 3527 NG_011767,Z00042,AC006548 IGKV3OR222|IGKVP3 pseudo 1346817 IGKV4-1 immunoglobulin kappa variable 4-1 1580863 28908 P06312 Z00023 1354155 IGKV5-2 immunoglobulin kappa variable 5-2 28907 X02485 1344381 IGKV6-21 immunoglobulin kappa variable 6-21 28906 X63399 1353245 IGKV6D-21 immunoglobulin kappa variable 6D-21 28870 X12683 1343087 IGKV6D-41 immunoglobulin kappa variable 6D-41 28869 X12688 1343063 IGKV7-3 immunoglobulin kappa variable 7-3 pseudogene 3137458 28905 NG_000834,AC096767,AP001211,AP001240,X12682 CAA31193 B1|IGKV73 pseudo 1348502 IGKV@ immunoglobulin kappa variable group 3519 1347699 IGKVOR2@ Immunoglobulin kappa variable orphans on chromosome 2 2114012,2111145 3524 1347208 IGL@ immunoglobulin lambda locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. There are two classes of light chains, kappa and lambda. This region represents the germline organization of the lambda light chain locus. The locus includes V (variable), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V segments and three C segments are known to be incapable of encoding a protein and are considered pseudogenes. The locus also includes several non-immunoglobulin genes, many of which are pseudogenes or are predicted by automated computational analysis or homology to other species. [provided by RefSeq] 3122211,6273747,10591208,18005388,17675156,16508097,12749909,12477932,11955599,11872955,9074928,8951372,7673721,7655473,6802926,6795508,6783958,3923432,3133312,2115572,1904362,1249422,814163,20637260 3535 NG_000002,D86989,D86991,D86993,D86994,D86996,D86998,D86999,D87000,D87002,D87003,D87004,D87006,D87007,D87009,D87010,D87011,D87013,D87014,D87015,D87016,D87017,D87018,D87020,D87021,D87022,D87024,D88269,D88270,D88271,D87023 ABM83568,ABM86805,ABM87078 IGL|IGLC6|MGC88804 ig lambda-6 chain C region|immunoglobulin lambda gene cluster protein-coding 1349723 IGLC1 immunoglobulin lambda constant 1 (Mcg marker) 1580863 3537 P01842 J00252 1352037 IGLC2 immunoglobulin lambda constant 2 (Kern-Oz- marker) 1580863 3538 P01842 J00253 1353213 IGLC3 immunoglobulin lambda constant 3 (Kern-Oz+ marker) 1580863 3539 P01842 J00254 1346758 IGLC4 immunoglobulin lambda constant 4 pseudogene 9074928,6273747,3122211 3540 NG_000002,D87023,J03009 IGLC pseudo 1347985 IGLC5 immunoglobulin lambda constant 5 pseudogene 6273747,3122211 3541 NG_000002,D87017,J03010 IGLC pseudo 1350362 IGLC6 immunoglobulin lambda constant 6 (Kern+Oz- marker) 3542 J03011 1351535 IGLC7 immunoglobulin lambda constant 7 28834 X51755 1352227 IGLC@ immunoglobulin lambda constant group 3536 1350177 IGLCOR22-1 immunoglobulin lambda constant/OR22-1 84096 AL008723 1353616 IGLCOR22-2 immunoglobulin lambda constant/OR22-2 pseudogene 84086 AL021937 IGLC/OR22-2 pseudo 1344872 IGLJ1 immunoglobulin lambda joining 1 28833 X04457 1346085 IGLJ2 immunoglobulin lambda joining 2 28832 M15641 1348665 IGLJ3 immunoglobulin lambda joining 3 28831 M15642 1352982 IGLJ4 immunoglobulin lambda joining 4 28830 X51755 1343526 IGLJ5 immunoglobulin lambda joining 5 28829 X51755 1350061 IGLJ6 immunoglobulin lambda joining 6 28828 M18338 1354222 IGLJ7 immunoglobulin lambda joining 7 28827 X51755 1348216 IGLJ@ immunoglobulin lambda joining group 8217 1348633 IGLJCOR18 immunoglobulin lambda joining-constant/OR18 pseudogene 6801526 204777 NG_004787,AP001025,J00255 IGLJ-C/OR18|IGLJ-COR18 pseudo 1344157 IGLL1 immunoglobulin lambda-like polypeptide 1 The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 2501791,18391951,16289162,15489334,12477932,11976493,11564802,10887125,10799888,10421777,9419212,9074928,9029104,8406611,7961773,3139558,3003227,2511029,2128466,2117639,1903358,1760403,1703205 3543 NM_152855,NM_020070,NG_009791,AP000345,CH471095,M34513,X03528,X03530,BC012293,BC030239,CR597509,CR619006,M27749 NP_690594,NP_064455,EAW59583,EAW59584,AAA36096,CAA27229,CAA27231,AAH12293,AAH30239,AAA36100,P15814,Q0P681,ABM84504,ABM85566 Hs.348935 14.1|AGM2|CD179b|IGL1|IGL5|IGLJ14.1|IGLL|IGO|IGVPB|VPREB2 CD179 antigen-like family member B|CD179b antigen|OTTHUMP00000198228|Pre-B lymphocyte-specific protein-2|ig lambda-5|immunoglobulin lambda-like polypeptide 1|immunoglobulin omega polypeptide chain|immunoglobulin-related 14.1 protein|immunoglobulin-related protein 14.1|lambda5 protein-coding 1349654 IGLL2 immunoglobulin lambda-like polypeptide 2 pseudogene 8406611,3003227 3544 L02326,AP000346,NG_016464 AAA16174 16.2|FLAMBDA1|IGLL1P|IGLL2 pseudo 1606196 IGLL3 immunoglobulin lambda-like polypeptide 3 8406611,3003227,1703205 91353 AL022324,CH471095,M34514,M34516,X03529,EG327472,NR_029395 EAW59689,AAA36097,CAA27230 Hs.651077 16.1|IGLL3 pseudo 3129514 IGLL4 immunoglobulin lambda-like polypeptide 4 pseudogene 3003227 100287528 AC007050,NG_021207,X04458 IGLL4 pseudo 3362168 IGLL5 immunoglobulin lambda-like polypeptide 5 This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1703205,1900243 100423062 AA847784,AJ318021,AJ319669,AJ319670,AJ319671,BG756003,M34515,M34518,NG_000002,NM_001178126,NR_033661,AJ318022 AAA36098,AAA99887,CAC50882,CAC51026,NP_001171597 Hs.449585 immunoglobulin lambda-3 surrogate light chain|immunoglobulin lambda-like polypeptide 5|omega light chain protein 14.1 protein-coding 2302828 IGLON5 IgLON family member 5 15057824 402665 NM_001101372,AC063977,CH471135,CR592222 NP_001094842,EAW72000,A6NGN9 Hs.546636 Ig-like domain-containing protein ENSP00000270642|hCG1651476|igLON family member 5 protein-coding 1346144 IGLP1 immune response to synthetic polypeptides 1 7925 1349431 IGLP2 immune response to synthetic polypeptides 2 7926 1344721 IGLV1-36 immunoglobulin lambda variable 1-36 28826 Z73653 1348756 IGLV1-40 immunoglobulin lambda variable 1-40 28825 M94116 1346087 IGLV1-41 immunoglobulin lambda variable 1-41 pseudogene 9074928,1495496 28824 NG_000002,D87010,M94118 IGLV141|V1-14P pseudo 1350159 IGLV1-44 immunoglobulin lambda variable 1-44 28823 Z73654 1351121 IGLV1-47 immunoglobulin lambda variable 1-47 28822 Z73663 1343227 IGLV1-50 immunoglobulin lambda variable 1-50 28821 M94112 1351842 IGLV1-51 immunoglobulin lambda variable 1-51 28820 Z73661 1349090 IGLV1-62 immunoglobulin lambda variable 1-62 pseudogene 9074928 28819 NG_000002,D87022 IGLV162|V1-23P pseudo 1344651 IGLV10-54 immunoglobulin lambda variable 10-54 28772 Z73676 1353309 IGLV10-67 immunoglobulin lambda variable 10-67 pseudogene 9074928,8951372 28771 NG_000002,D86993,Z73651 IGLV1067|V1-25P pseudo 1348002 IGLV11-55 immunoglobulin lambda variable 11-55 28770 D86996 1345280 IGLV2-11 immunoglobulin lambda variable 2-11 28816 Z73657 1352679 IGLV2-14 immunoglobulin lambda variable 2-14 28815 Z73664 1351160 IGLV2-18 immunoglobulin lambda variable 2-18 28814 Z73642 1345620 IGLV2-23 immunoglobulin lambda variable 2-23 28813 X14616 1348337 IGLV2-28 immunoglobulin lambda variable 2-28 pseudogene 9074928,8951372 28812 NG_000002,D86994,X97466 IGLV228|V1-8P pseudo 1345246 IGLV2-33 immunoglobulin lambda variable 2-33 28811 Z73643 1343548 IGLV2-34 immunoglobulin lambda variable 2-34 pseudogene 9074928 28810 NG_000002,D87013 IGLV234|V1-10P pseudo 1342960 IGLV2-5 immunoglobulin lambda variable 2-5 pseudogene 9074928,8951372 28818 NG_000002,D87024,Z73641 IGLV25|V1-1P pseudo 1350535 IGLV2-8 immunoglobulin lambda variable 2-8 28817 X97462 1354157 IGLV3-1 immunoglobulin lambda variable 3-1 28809 X57826 1347728 IGLV3-10 immunoglobulin lambda variable 3-10 28803 X97464 1353164 IGLV3-12 immunoglobulin lambda variable 3-12 28802 Z73658 1343146 IGLV3-13 immunoglobulin lambda variable 3-13 pseudogene 9074928,8951372 28801 NG_000002,D86998,D87015,X97463 IGLV313|V2-9P pseudo 1348035 IGLV3-15 immunoglobulin lambda variable 3-15 pseudogene 9074928 28800 NG_000002,D87015 IGLV315|V2-10P pseudo 1351814 IGLV3-16 immunoglobulin lambda variable 3-16 28799 X97471 1343091 IGLV3-17 immunoglobulin lambda variable 3-17 pseudogene 9074928,8951372 28798 NG_000002,D87015,X97472 IGLV317|V2-12P pseudo 1348212 IGLV3-19 immunoglobulin lambda variable 3-19 28797 X56178 1350085 IGLV3-2 immunoglobulin lambda variable 3-2 pseudogene 9074928,8951372 28808 NG_000002,D87024,X97468 IGLV32|V2-2P pseudo 1353004 IGLV3-21 immunoglobulin lambda variable 3-21 28796 X71966 1344674 IGLV3-22 immunoglobulin lambda variable 3-22 28795 Z73666 1349653 IGLV3-24 immunoglobulin lambda variable 3-24 pseudogene 9074928,8028600 28794 NG_000002,D86994,X71968 IGLV324|V2-16P pseudo 1351612 IGLV3-25 immunoglobulin lambda variable 3-25 28793 X97474 1342666 IGLV3-26 immunoglobulin lambda variable 3-26 pseudogene 9074928,8951372 28792 NG_000002,D86994,X97467 IGLV326|V2-18P pseudo 1352617 IGLV3-27 immunoglobulin lambda variable 3-27 28791 D86994 1346104 IGLV3-29 immunoglobulin lambda variable 3-29 (pseudogene) 9074928,8951372 28790 NG_000002,D87002,Z73644 IGLV329 pseudo 1351461 IGLV3-30 immunoglobulin lambda variable 3-30 pseudogene 9074928,8951372 28789 NG_000002,D87014,Z73646 IGLV330|V2-21P pseudo 1346403 IGLV3-31 immunoglobulin lambda variable 3-31 pseudogene 9074928,8951372 28788 NG_000002,D87014,X97469 IGLV331|V2-22P pseudo 1344557 IGLV3-32 immunoglobulin lambda variable 3-32 28787 Z73645 1343976 IGLV3-4 immunoglobulin lambda variable 3-4 pseudogene 9074928 28807 NG_000002,D87024 IGLV34|V2-3P pseudo 1348922 IGLV3-6 immunoglobulin lambda variable 3-6 pseudogene 9074928,8951372 28806 NG_000002,D87024,X97465 IGLV36|V2-4P pseudo 1345637 IGLV3-7 immunoglobulin lambda variable 3-7 pseudogene 9074928,8951372 28805 NG_000002,D87024,X97470 IGLV37|V2-5P pseudo 1344709 IGLV3-9 immunoglobulin lambda variable 3-9 28804 X97473 1351470 IGLV4-3 immunoglobulin lambda variable 4-3 28786 X57828 1349096 IGLV4-60 immunoglobulin lambda variable 4-60 28785 Z73667 1349935 IGLV4-69 immunoglobulin lambda variable 4-69 28784 Z73648 1345795 IGLV5-37 immunoglobulin lambda variable 5-37 28783 Z73672 1344666 IGLV5-39 immunoglobulin lambda variable 5-39 28782 Z73668 1345111 IGLV5-45 immunoglobulin lambda variable 5-45 28781 Z73670 1343851 IGLV5-48 immunoglobulin lambda variable 5-48 28780 Z73649 1351515 IGLV5-52 immunoglobulin lambda variable 5-52 28779 Z73669 1345923 IGLV6-57 immunoglobulin lambda variable 6-57 28778 Z73673 1350740 IGLV7-35 immunoglobulin lambda variable 7-35 pseudogene 9074928,8951372 28777 NG_000002,Z73660 IGLV735|V3-1P pseudo 1346910 IGLV7-43 immunoglobulin lambda variable 7-43 28776 X14614 1344991 IGLV7-46 immunoglobulin lambda variable 7-46 28775 Z73674 1344347 IGLV8-61 immunoglobulin lambda variable 8-61 28774 Z73650 1350125 IGLV8OR8-1 immunoglobulin lambda variable 8/OR8-1 pseudogene 9174619 28756 Y08831 IGLV8/OR8-1|IGLV8OR81 pseudo 1352179 IGLV9-49 immunoglobulin lambda variable 9-49 28773 Z73675 1351415 IGLV@ immunoglobulin lambda variable group 3923432 3546 1347357 IGLVI-20 immunoglobulin lambda variable (I)-20 pseudogene 9074928 28769 NG_000002,D87007 IGLV(I)-20|IGLVI20|V1-6P pseudo 1606798 IGLVI-38 immunoglobulin lambda variable (I)-38 pseudogene 9074928 28768 NG_000002,D87010 IGLV(I)-38|IGLVI38|V1-12P pseudo 1350879 IGLVI-42 immunoglobulin lambda variable (I)-42 pseudogene 9074928,2499871,1909789 28767 NG_000002,D86999,X14613 IGLV(I)-42|IGLVI42|V1-15P pseudo 1350053 IGLVI-56 immunoglobulin lambda variable (I)-56 pseudogene 9074928 28766 NG_000002,D86996 IGLV(I)-56|IGLVI56|V1-21P pseudo 1348293 IGLVI-63 immunoglobulin lambda variable (I)-63 pseudogene 9074928 28765 NG_000002,D87022 IGLV(I)-63|IGLVI63|V1-24P pseudo 1343173 IGLVI-68 immunoglobulin lambda variable (I)-68 pseudogene 9074928 28764 NG_000002,D86993 IGLV(I)-68|IGLVI68|V1-26P pseudo 1345137 IGLVI-70 immunoglobulin lambda variable (I)-70 pseudogene 9074928 28763 NG_000002,D86993 IGLV(I)-70|IGLVI70|V1-27P pseudo 1346812 IGLVIV-53 immunoglobulin lambda variable (IV)-53 pseudogene 9074928 28762 NG_000002,D86996 IGLV(IV)-53|IGLVIV53|V4-5P pseudo 1345396 IGLVIV-59 immunoglobulin lambda variable (IV)-59 pseudogene 9074928 28761 NG_000002,D87000 IGLV(IV)-59|IGLVIV59|V4-7P pseudo 1343273 IGLVIV-64 immunoglobulin lambda variable (IV)-64 pseudogene 9074928 28760 NG_000002,D87022 IGLV(IV)-64|IGLVIV64|V4-8P pseudo 1350516 IGLVIV-65 immunoglobulin lambda variable (IV)-65 pseudogene 9074928 28759 NG_000002,D87022 IGLV(IV)-65|IGLVIV65|V4-9P pseudo 1604768 IGLVIV-66-1 immunoglobulin lambda variable (IV)-66-1 pseudogene 9074928 84097 NG_000002 pseudo 1349537 IGLVIVOR22-1 immunoglobulin lambda variable (IV)/OR22-1 84088 AL008721 1353385 IGLVIVOR22-2 immunoglobulin lambda variable (IV)/OR22-2 84087 AL021937 1350373 IGLVV-58 immunoglobulin lambda variable (V)-58 pseudogene 9074928 28758 NG_000002,D87000 IGLV(V)-58|IGLVV58|V5-3P pseudo 1606799 IGLVV-66 immunoglobulin lambda variable (V)-66 pseudogene 9074928 28757 NG_000002 IGLV(V)-66|IGLVV66|V5-5P pseudo 1343450 IGLVVI-22-1 immunoglobulin lambda variable (VI)-22-1 84091 X71351 1604769 IGLVVI-25-1 immunoglobulin lambda variable (VI)-25-1 pseudogene 9074928 84090 NG_000002 lambdavg3 pseudo 1345116 IGLVVII-41-1 immunoglobulin lambda variable (VII)-41-1 pseudogene 2499871 84089 NG_000002,X99568 lambdavg1 pseudo 1353839 IGSF1 immunoglobulin superfamily, member 1 Members of the immunoglobulin (Ig) superfamily (see MIM 147100), which includes IGSF1, have a variety of functions, but all appear to play a role in cell recognition and the regulation of cell behavior.[supplied by OMIM] 1580863 11266516,18981173,16381901,16344560,15489336,12477932,12421765,11854097,11344214,11076863,9729118,9521868,9373149,9205841,8125298 3547 NM_001555,NM_205833,AL590806,CH471107,AB058894,AF034198,AK057916,AK226008,AK295438,AK307871,AL137369,BC028312,BC063884,CR614008,DA195297,Y10523,NG_021190,NM_001170961,NM_001170962,NM_001170963,HC250963,HC311152 NP_001546,NP_991402,CAI41248,CAI41249,CAI41250,EAX11791,EAX11792,BAB40235,AAC52057,BAG58378,CAB70713,AAH63884,CAA71535,Q8N6C5,CAL37686,CAL37995,CAL38206,CAL38268,NP_001164432,NP_001164433,NP_001164434,CBJ05779,CBJ21231 Hs.22111 IGCD1|IGDC1|INHBP|KIAA0364|MGC75490|PGSF2|p120 OTTHUMP00000024027|OTTHUMP00000024028|immunoglobulin superfamily member 1|immunoglobulin-like domain-containing protein 1|inhibin-binding protein|pituitary gland-specific factor 2 protein-coding 1352652 IGSF10 immunoglobulin superfamily, member 10 737633,1580863 14702039,12477932,16344560 737633 285313 AC024886,CH471052,AK093069,AK098838,AK128160,AY273815,BC031063,BC045734,NM_178822,DB051634,DB054913,NM_001178145,NM_001178146 EAW78798,EAW78799,BAC04042,BAC05429,BAC87305,AAQ16156,AAH31063,AAH45734,Q6WRI0,Q6ZRK5,AAI56532,NP_849144,NP_001171616,NP_001171617 Hs.727746 CMF608|FLJ25972 calvaria mechanical force protein 608|immunoglobulin superfamily member 10 protein-coding 1318715 IGSF11 immunoglobulin superfamily, member 11 IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM] 1580863 16108831,15795899,14702039,12975309,12851705,12477932,12207903 152404 NM_152538,NM_001015887,AC007023,AC012032,AC068984,AC083800,CH471052,CQ789642,AA292896,AB071618,AB079879,AK097667,AK122611,AK292387,AK296503,AL834256,AY358141,BC034411,BI828564 NP_689751,NP_001015887,EAW79579,EAW79580,CAG24381,BAD90695,BAC07546,BAC05139,BAG53622,BAF85076,BAG59136,CAD38931,AAQ88508,AAH34411,Q5DX21,ACE87572,ACE86885 Hs.112873 BT-IgSF|CT119|CXADRL1|Igsf13|MGC35227|VSIG3 CXADR like 1|OTTHUMP00000215225|OTTHUMP00000215226|V-set and immunoglobulin domain containing 3|V-set and immunoglobulin domain-containing protein 3|brain and testis-specific immunoglobin superfamily protein|brain and testis-specific immunoglobulin superfamily protein|cancer/testis antigen 119|immunoglobulin superfamily member 11 protein-coding 1322923 IGSF2 immunoglobulin superfamily, member 2 1580863 7722300,16344560,15737213,15342556,12477932,11504738,11093127,10692025,9389317,9233604,7722299,16169070,9647226,19898481 9398 NM_004258,AL445231,CH471122,AI791963,AK298237,AK307542,BC130327,BC136484,BC171768,BP300139,DA955029,Z33642 NP_004249,CAH71959,EAW56664,EAW56665,BAG60504,AAI30328,AAI36485,AAI71768,CAA83923,Q93033 Hs.654598 CD101|IGSF2|V7 EWI-101|OTTHUMP00000013817|cell surface glycoprotein V7|glu-Trp-Ile EWI motif-containing protein 101|immunoglobulin superfamily member 2|immunoglobulin superfamily, member 2|leukocyte surface protein protein-coding 1602849 IGSF21 immunoglobin superfamily, member 21 19240061,16710414,16303743,16169070,15489334,14702039,12477932,20379614,20932654 84966 CR610302,AL050342,AL356101,AL359738,AL365209,CH471134,CQ783449,AK075316,AK092618,AK123172,AK294121,BC007618,CR593587,NM_032880,NG_027535,BF939845 NP_116269,CAI22204,CAI22205,CAH70255,CAH70256,CAH71695,CAH70900,EAW94848,CAF86651,BAC11542,BAG53875,BAG57454,AAH07618,Q96ID5,ACE87599,ACE86912 Hs.212511 FLJ41177|MGC15730|RP11-121A23.1 immunoglobulin superfamily member 21 protein-coding 1601807 IGSF22 immunoglobulin superfamily, member 22 16344560,14702039,12477932 283284 NM_173588,AC103974,AA255875,AI952274,AK095113,BC115396,BC115397,DA338373 NP_775859,BAC04488,AAI15398,Q8N9C0 Hs.434152 FLJ37794 OTTHUMP00000218334|OTTHUMP00000218335|immunoglobulin superfamily member 22 protein-coding 1317196 IGSF3 immunoglobulin superfamily, member 3 14702039,12477932,9790749,9455484 3321 NM_001007237,NM_001542,AL355794,AL356748,CH471122,AB007935,AF031174,AK097809,BC110651,BC130279,BU189125,BC144132 NP_001007238,NP_001533,CAI22421,CAI22422,EAW56657,EAW56658,EAW56659,BAA32311,AAC72013,BAC05175,AAI10652,AAI30280,O75054,ACE87446,ACE86759,AAI44133,CAI22765,CAI22766 Hs.171057 EWI-3|MGC117164|V8 OTTHUMP00000024368|glu-Trp-Ile EWI motif-containing protein 3|immunoglobin superfamily, member 3|immunoglobulin superfamily member 3 protein-coding 1352549 IGSF5 immunoglobulin superfamily, member 5 14702039,12477932,12773569,16832352,20379614,10830953 150084 NM_001080444,AF121782,AL163280,AK092516,BC114922,CR606754 NP_001073913,CAB90447,BAG52565,Q9NSI5,AAI56233,AAI57007 Hs.422120 GSF5|JAM4 JAM-4|immunoglobulin superfamily 5 like|immunoglobulin superfamily member 5|junctional adhesion molecule 4 protein-coding 1343123 IGSF6 immunoglobulin superfamily, member 6 633060,1580863 9809579,12786995,12477932,11132146,9373149,8125298 633060 10261 NM_005849,AC092719,AJ278581,CH878403,AJ223183,AK223286,AK290910,AK293703,AK313860,AV717532,BC017844 O95976,NP_005840,CAC20440,EAW50523,CAA11155,BAD97006,BAF83599,BAH11575,BAG36588,AAH17844,ABM82939,ABM86128,ABW03678,ABW03775 Hs.530902 DORA down-regulated by activation (immunoglobulin superfamily)|immunoglobulin superfamily member 6 protein-coding 1322991 IGSF8 immunoglobulin superfamily, member 8 11504738,19107234,18382656,17785435,16690612,16537545,15489334,15070678,14702039,14662754,12752121,12750295,12708969,12477932,11673522 93185 NM_052868,AL121987,CH471121,AF311906,AF407274,AK055843,AK090396,AK308115,AY044845,AY157579,BC004108,BC011896,BC023649,BC053881 NP_443100,CAI15269,CAI15270,EAW52743,EAW52744,EAW52745,EAW52746,AAM94901,AAL01052,BAB71027,BAC03377,AAK92220,AAO13163,AAH04108,AAH11896,AAH23649,AAH53881,Q8NF83,Q969P0,Q96EW3 Hs.332012 CD316|CD81P3|EWI-2|EWI2|KCT-4|LIR-D1|PGRL CD81 partner 3|glu-Trp-Ile EWI motif-containing protein 2|immunoglobulin superfamily member 8|keratinocytes-associated transmembrane protein 4 protein-coding 1312078 IGSF9 immunoglobulin superfamily, member 9 14702039,12975309,12477932,11991715,10718198,8889548,16169070 57549 NM_001135050,NM_020789,AL513485,CH471121,AB037776,AI758999,AK056650,AY203932,AY358128,BC030141,CK299326 NP_001128522,NP_065840,CAI14605,CAI14606,EAW52756,EAW52757,EAW52758,BAA92593,AAP34455,AAQ88495,AAH30141,Q6XYD8,Q9P2J2,ABM84562,ABM87853 Hs.591472 FP18798|IGSF9A|KIAA1355|Nrt1 immunoglobulin superfamily member 9A|protein turtle homolog A protein-coding 1604824 IGSF9B immunoglobulin superfamily, member 9B 14702039,12975309,10470851 22997 NM_014987,AP000911,AP001979,AB028953,AB231704,AK097578,AY358228 NP_055802,BAA82982,BAE46874,BAC05109,AAQ88595,Q3C1X3,Q6UXS3,Q8N7W7 Hs.204121 KIAA1030 immunoglobulin superfamily, member 9B protein-coding 1346066 IHG1 iris hypoplasia with glaucoma 1 3548 1350368 IHH Indian hedgehog homolog (Drosophila) 1600032,1600033,1580863 11455389,11435703,10462495,10050855,9811851,9186520,8824192,7720571,7590746,20683927,20846217,11476578,19453261,19445942,19213939,19074837,18829534,18788453,18629882,18391952,18391951,17962696,17486609,17387386,17360475,16871364,16335952,16322088,15839736,15489334,15146555,15105288,14770182,14651602,14520411,12917489,12632327,12525541,12477932,12384778,12368206,12176676,20546612,20724312,18698484,19277064,19464397,19856079,20007344,20189936,20400458,20854074,20881264 1600032,1600033 3549 NM_002181,AB018076,AC097468,CH471063,CS126482,BC034757,BC136587,BC136588,L38517,AI802733,NG_016741,CS464812 NP_002172,BAA33523,AAX88920,EAW70675,CAJ18810,AAH34757,AAI36588,AAI36589,AAA62178,Q14623,Q4ZFW8,CAM31803 Hs.654504 BDA1|HHG2 HHG-2|Indian hedgehog homolog|indian hedgehog protein protein-coding 1347168 IK IK cytokine, down-regulator of HLA II The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq] 1580863 8125298,14499622,7970704,19064678,16169070,14702039,12477932,11407974,10216252,9373149,9160666,9110174,8619474,20677014,19845895,20237496 3550 NM_006083,AC005369,AC116353,CH471062,AF182645,AJ005579,AK097968,AK225924,AK293626,AK308730,AK312363,AL050296,AY007094,BC013005,BC051295,BC071964,CR612510,S74221 NP_006074,EAW62028,EAW62029,EAW62030,AAD55447,CAA06607,BAG57083,BAG35281,CAB43395,AAG01985,AAH13005,AAH71964,AAB32531,Q13123,Q95HA6,Q9H4P6,Q9UK43,Q9Y3Z5 Hs.421245 CSA2|MGC59741|RED IK factor|RD element|chondrosarcoma-associated protein 2|cytokine IK|prer protein|protein Red protein-coding 734035 IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq] 1580863 11747609,19651702,20098615,20361209,20503287,11714725,11818576,10094049,14667819,15383276,19185337,9751059,19262425,19258923,19247692,19015235,18434448,18303054,18264947,18091349,17703412,17644305,17591626,17206408,17137217,16964593,16713582,16344560,14743216,14702039,12774215,12577200,12477932,12116234,12102458,12058026,11179021,11179008,9373149,8125298,8102296,16169070,19834596,19913121,20628086 8518 NM_003640,NG_008788,AL354797,AL359692,BX648204,CH471105,AB210033,AF044195,AF153419,AK001641,AK022559,AK024223,AK123257,AK127237,AK225798,AK289962,AK304742,AL049945,BC033094,BF968300,CR749385,DA400136 NP_003631,CAI39465,CAI40569,EAW59027,EAW59028,EAW59029,EAW59030,EAW59031,BAE06115,AAC64258,AAG43369,BAG50955,BAG51092,BAG51274,BAG53883,BAG54459,BAF82651,BAG65501,CAB43219,AAH33094,CAH18235,O95163,Q4LE38,Q68DI5,Q8N516 Hs.494738 DKFZp781H1425|DYS|ELP1|FD|FLJ12497|IKAP|IKI3|TOT1 IKK complex-associated protein|elongator complex protein 1|ikappaB kinase complex-associated protein|inhibitor of kappa light polypeptide enhancer in b-cells, kinase complex-associated protein|p150 protein-coding 733968 IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008, or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 2292150,2292172,1580863 9346485,9813230,15790681,9744859,10723127,19453261,19270264,19258923,19202066,19141566,19109741,19104039,19050262,18990758,18952604,18657515,18636537,18600306,18571841,18490760,18434448,18411264,18408758,18316610,18308615,18266324,18260825,18163512,18037881,18029348,17997719,17962807,17947699,17939994,17703412,17693255,17684021,17616684,17466952,17446166,17419715,17363905,17244613,17237423,17145747,17114296,17079871,17016640,16998237,16989899,16982623,16966325,16938294,16728640,16583354,16365431,16280329,16267042,16207722,16177806,16135815,16126728,16123045,16082226,16046471,16024783,15951441,15880043,15837793,15761153,15749833,15564333,15492226,15489334,15489227,15456791,15383283,15319427,15254232,15226300,15217951,15140882,15128824,15084260,14990741,14743216,14715628,14702039,14625285,14585990,14585847,14585846,14560022,14514672,12890679,12842894,12707358,12657630,12645577,12637324,12589056,12547194,12492477,12486112,12477932,12411322,12393548,12351658,12070292,11971985,11954826,11945026,11864612,11839743,11815618,11777949,11606564,11594795,11585904,11527961,11460167,11429546,11359906,11158290,11120819,11002417,10968790,10962033,10848580,10783893,10779355,10755617,10722755,10713178,10521409,10485711,10469655,10356400,10195894,10022904,9878263,9819420,9763654,9751060,9751059,9721103,9689078,9346241,9214631,8657102,8601309,17182689,11959143,17891179,18207244,11057907,18180283,11096118,19150425,11278268,10807933,9891086,9632806,15856023,15802604,15494311,12210728,12133833,15808510,20347815,20568250,20933503,21048031,20176108,20627395,16319058,9346484,10733566,11976329,14654787,15389287,15601829,16286467,16291755,16344560,16997282,17047224,18692471,19488402,19526344,19573080,19591457,19594441,19675099,19716809,19728335,19730683,19773279,19786027,19818716,20007573,20051109,20056178,20068038,20145131,20152798,20331378,20448286,20503287,9252186,9520446,19243472,20410276,20448038,20421348,15276183,20465575,20529849,20657549,20371626,12482991,16424386,20098747,20693425,19656241 2292150,2292172 3551 NM_001556,AC083973,AY663108,CH471080,AB209090,AF029684,AF031416,AF080158,AK091297,AK097828,AK290952,AK298241,AK302723,AK303294,AK303528,AK316418,AL708460,BC006231,BC090865,BC108694,BC127663,BC141978,BC144080,BX648165,CR607076,AI379342,AK091090,AK093537,AK095687,DA105584,DA159382,DA709000,NM_001190720,NM_001190721,NM_001190722,NR_033818,NR_033819,NR_033820 NP_001547,AAT65965,EAW63222,EAW63223,EAW63224,EAW63225,EAW63226,BAD92327,AAC51860,AAC64675,AAD08997,BAG52329,BAF83641,BAG60507,BAG63942,BAG64369,BAG64556,BAH14789,AAH06231,AAI08695,AAI27664,AAI41979,O14920,Q32ND9,Q59GL9,NP_001177649,NP_001177650,NP_001177651 Hs.597664 FLJ33771|FLJ36218|FLJ38368|FLJ40509|IKK-beta|IKK2|IKKB|MGC131801|NFKBIKB I-kappa-B kinase 2|I-kappa-B-kinase beta|IKK-B|inhibitor of nuclear factor kappa-B kinase subunit beta|nuclear factor NF-kappa-B inhibitor kinase beta protein-coding 1318072 IKBKE inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 1580863 19913121,20588308,20628086,20634891,10882136,16177806,17353931,10421793,12761501,19497997,19481526,19153231,18434448,18353649,17574021,17328045,17327220,17003035,16888014,16840782,16731946,16710414,16380379,16299251,15879144,15767399,15695821,15550384,15489334,15489227,15367631,14743216,14702039,14560022,12736252,12692549,12676577,12477932,12133833,11902829,11839743,11470787,10759890,8590280,11959143,18636086,16344560,8889548,15556946,15939554,16281057,17823124,19380491,19786281,19940156,16914100,18029348,15276183 9641 NM_014002,AL354681,CH471100,DQ667176,AB016590,AF241789,AK093798,AK310737,AL706097,AY660028,BC105923,BC105924,BC107591,BC107812,D63485,CB243308,DA990116,DA999897,DB152295,NM_001193321,NM_001193322,FB750148 NP_054721,CAI15250,EAW93547,EAW93548,EAW93549,ABG25921,BAA85155,AAF45307,AAI05924,AAI05925,AAI07813,BAA09772,Q14164,Q3B754,NP_001180250,NP_001180251,CAT02203 Hs.321045 IKK-E|IKK-i|IKKE|IKKI|KIAA0151|MGC125294|MGC125295|MGC125297 I-kappa-B kinase epsilon|IKK-epsilon|IKK-related kinase epsilon|inducible I kappa-B kinase|inducible IkappaB kinase|inhibitor of nuclear factor kappa-B kinase subunit epsilon protein-coding 1347094 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [supplied by RefSeq] 2292150,2292172,1600008,1580863 15125833,16831874,11047757,9751060,9744859,10723127,19453261,19365808,19327867,19305025,19185524,19149237,19033441,18957422,18851874,18841575,18685082,18511905,18350553,18313693,18287044,18266324,18207244,18201555,17977820,17932497,17910706,17766391,17702576,17468758,17401626,17401323,17314097,17244613,17145747,17043643,17000764,16906147,16794254,16737960,16684768,16611882,16583354,16497931,16379012,16360037,16319058,16148947,15870263,15749833,15601896,15578091,15489334,15456791,15356572,15341735,15229184,15184390,15100680,14764716,14754897,14743216,14726382,14695475,14684825,14651848,14597638,14585847,12943667,12917691,12867425,12657630,12612076,12530972,12477932,12192055,12138192,12133833,12045264,11971985,11971901,11877453,11864612,11830587,11709543,11673821,11590134,11551959,11495908,11418127,11410370,11256614,11242109,11224521,11080499,11064457,18029348,20211142,20724660,11113112,15601829,9927690,10968790,10962033,10962024,10944468,10880512,10839543,10755617,10364167,10087442,9891086,17891179,17942533,18216269,18617513,18180283,18347055,11057907,14585990,14653779,15327770,15802604,12435599,20529958,10980203,11389905,12459277,12808104,15231748,15620648,15833158,16227629,16267042,16301747,16697380,17047224,17135271,19373245,19404319,19603533,19656162,19687056,19763089,19854204,19948975,19956647,20026645,20065354,20098747,20164171,20167598,20301198,20353939,20368414,20380930,20434027,20542322,16424386,16543241,20932476,11002417,20923877,15276183 2292150,2292172,1600008 8517 NM_001099857,NM_001145255,NM_003639,NM_001099856,NG_009896,AF277315,AJ271718,CH471172,AF062089,AF074382,AF091453,AF261086,AK000593,AK308366,AY114157,AY429546,AY429547,BC000299,BC012114,BC046922,BC050612,BT019621,CR600010,CR603029,CR604149,CR612085,DC410130 NP_001093326,NP_001093327,NP_001138727,NP_003630,AAL27012,CAB93146,EAW72677,EAW72678,EAW72679,EAW72680,EAW72681,AAD12183,AAC36330,AAD38081,AAF99679,AAM44073,AAH00299,AAH12114,AAH46922,AAH50612,AAV38427,Q7LBY6,Q7Z7F1,Q9Y6K9,ABM82309,ABM85486 Hs.43505 AMCBX1|FIP-3|FIP3|Fip3p|IKK-gamma|IP|IP1|IP2|IPD2|NEMO I-kappa-B kinase subunit gamma|IKKAP1|IKKG|IkB kinase gamma subunit|NF-kappa-B essential modifier|NF-kappa-B essential modulator|NFkappaB essential modulator|OTTHUMP00000207079|OTTHUMP00000212188|ikB kinase subunit gamma|ikB kinase-associated protein 1|incontinentia pigmenti|inhibitor of nuclear factor kappa-B kinase subunit gamma protein-coding 1626258 IKBKGP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 11709543 246210 NG_001576,AF277315 IKBKGP|deltaNEMO pseudo 1605589 IKIP IKK interacting protein 15389287,14702039,12477932,17207965 121457 NM_201613,NM_201612,NM_153687,AC013283,CH471054,AJ539425,AJ539426,AJ539427,AK055613,AK123069,BC029415,BC051372,BC058933,BC107572,CR622083 NP_963907,NP_963906,NP_710154,EAW97601,EAW97602,CAD62380,CAD62381,CAD62382,CAD62383,BAB70970,BAC85528,AAH29415,AAH51372,AAH58933,AAI07573,Q3B7K3,Q70UQ0,ADQ32545 Hs.252543 FLJ31051|IKIP I kappa B kinase interacting protein|IKBKB-interacting protein|IKK interacting protein|IKK-interacting protein|i kappa-B kinase-interacting protein|inhibitor of nuclear factor kappa-B kinase-interacting protein protein-coding 1345718 IKZF1 IKAROS family zinc finger 1 (Ikaros) 1580863 17207965,19760754,21048031,20919861,20596648,20445578,20508609,8543809,19285729,19282287,19131787,19129520,19116116,19114560,18838475,18650450,18483254,18408710,18332232,17681952,17476278,17383641,17357110,16364975,16205638,16189514,16081070,15618287,15489334,15390181,12799380,12690205,12626565,12477932,12412579,12200376,12127581,12094252,12015313,11959865,11937265,11908734,11812772,11799125,11489963,10978333,10766745,10753856,10577847,10357820,10218586,10204490,9892693,9560339,9155026,8964602,7935426,1439790,20139093,18464116,19589926,19620299,19620627,19668339,19684603,19684604,19770381,19796813,19838193,19862010,20042726,20233627,20346360,20432734,20516000 10320 AC124014,AC233268,CH236955,CH471128,AF116605,AF432219,AM085310,AY377974,BC018349,BC064594,BC075820,BF797348,BT009836,BU665456,S80876,U40462,NM_006060,AK303586,AK308411 ADQ32789,NP_006051,EAL23900,EAW60977,EAW60978,EAW60979,EAW60980,EAW60981,EAW60982,AAF71030,AAL99925,CAJ29975,AAR84585,AAH18349,AAP88838,AAB50683,AAC50459,Q13422,Q3T907,Q69BM4,Q8TDG7,Q9P1M1,BAG64603 Hs.435949,Hs.488251 Hs.54452|IK1|IKAROS|LYF1|PRO0758|ZNFN1A1|hIk-1 CLL-associated antigen KW-6|DNA-binding protein Ikaros|Ikaros (zinc finger protein)|ikaros family zinc finger protein 1|lymphoid transcription factor LyF-1|zinc finger protein, subfamily 1A, 1 (Ikaros) protein-coding 1318602 IKZF2 IKAROS family zinc finger 2 (Helios) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 1580863 12752680,12477932,12153174,12115658,11937265,10978333,10541817,9560339,9512513,12015313,12943985,18332232,17681952,17297655,15489334,19913121,20628086,19198610,19860791,20226531,20432734 22807 AF130863,AI458439,AK301503,AY008294,AY587062,AY587063,AY587064,AY587065,AY587066,AY587067,AY587068,AY587069,AY587070,AY587071,AY587072,AY587073,BC028936,NM_001079526,NM_016260,AC013736,AC079610,AC108066,AL157504,CH471063 EAW70512,EAW70513,EAW70514,AAF09441,BAG63014,AAG22856,AAS99855,AAS99856,AAS99857,AAS99858,AAS99859,AAS99860,AAS99861,AAS99862,AAS99863,AAS99864,EAW70511,AAS99865,AAS99866,AAH28936,Q53QP1,NP_001072994,NP_057344,AAY24238,AAX93263,AAY24327,EAW70502,EAW70503,EAW70504,EAW70505,EAW70506,EAW70507,EAW70508,EAW70509,EAW70510,Q53RV5,Q53SU9,Q53YJ5,Q6PQC4,Q6PQC5,Q6PQC6,Q6PQC7,Q6PQC8,Q6PQD0,Q6PQD1,Q6PQD3,Q96LD7,Q9UKS7,ABZ92398 Hs.604950 HELIOS|MGC34330|ZNF1A2|ZNFN1A2 OTTHUMP00000163964|OTTHUMP00000163965|OTTHUMP00000206709|ikaros family zinc finger protein 2|zinc finger DNA binding protein Helios|zinc finger protein Helios|zinc finger protein, subfamily 1A, 2 (Helios)|zinc finger protein, subfamily 1a, 2 (helios) protein-coding 1315971 IKZF3 IKAROS family zinc finger 3 (Aiolos) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. At least six alternative transcripts encoding different isoforms have been described. [provided by RefSeq] 1580863 20453842,20639880,10552935,19124506,18978678,18332232,18206652,18184862,17646674,17383641,17296582,17117180,12477932,12015313,11997672,11937265,11745366,11714801,10978333,10766745,10369681,9806640,9155026,9560339,16189514,10204490,12574333,19458352,19540588,20432734 22806 NM_183231,NM_183228,NM_183232,NM_183229,NM_183230,NM_012481,AC079199,AC090844,CH471152,AF129512,AJ292565,AJ292566,AJ292567,AJ292568,AJ292569,AK301250,AK303495,AY377973,AY377975,AY377976,AY377977,AY377978,AY377979,AY377980,AY377981,AY377982,BC032707 NP_899054,NP_899051,NP_899055,NP_899052,NP_899053,NP_036613,EAW60604,EAW60605,EAW60606,EAW60607,EAW60608,EAW60609,AAF13493,CAC80427,CAC80429,CAC80430,CAC80431,BAG62817,BAG64529,AAR84584,AAR84586,AAR84587,AAR84588,AAR84589,AAR84590,AAR84591,AAR84592,AAR84593,AAH32707,Q69BL6,Q69BL7,Q69BL8,Q69BL9,Q69BM0,Q69BM1,Q69BM2,CAC80428,Q69BM3,Q69BM5,Q9UKT9,ABZ92305 Hs.444388 AIO|AIOLOS|ZNFN1A3 OTTHUMP00000164336|OTTHUMP00000164345|OTTHUMP00000164346|ikaros family zinc finger protein 3|zinc finger protein Aiolos|zinc finger protein, subfamily 1A, 3 (Aiolos)|zinc finger protein, subfamily 1a, 3 (aiolos) protein-coding 1312328 IKZF4 IKAROS family zinc finger 4 (Eos) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM] 20596022,10978333,18198356,16344560,14702039,12444977,12015313,11347906,10218586,15494726 64375 NM_022465,AC034102,CH471054,AB058685,AF230809,AK055063,AK122880,AK314543,BX647761,DA797441 EAW96872,EAW96873,EAW96874,BAB47411,AAG39221,BAG53777,BAG37131,Q9H2S9,AAI60169,NP_071910 Hs.553221 EOS|KIAA1782|ZNFN1A4 ikaros family zinc finger protein 4|zinc finger protein Eos|zinc finger protein, subfamily 1A, 4 (Eos)|zinc finger protein, subfamily 1a, 4 (eos)|zinc finger transcription factor Eos protein-coding 1322164 IKZF5 IKAROS family zinc finger 5 (Pegasus) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM] 1580863 16189514,14702039,12477932,12094252,10978333,12511597,18029348 64376 NM_022466,AC073585,CH471066,AF230808,AK026626,AK122899,AK226143,BC022564,BX647958,CR591039,CR602407,CR749800 NP_071911,EAW49292,EAW49293,EAW49294,AAG39220,BAB15512,BAG53789,CAH56199,CAH18660,Q9H5V7,ABM83326,ABM86540 Hs.501289 DKFZp781B0249|FLJ22973|PEGASUS|ZNFN1A5 ikaros family zinc finger protein 5|zinc finger protein Pegasus|zinc finger protein, subfamily 1A, 5 (Pegasus)|zinc finger protein, subfamily 1a, 5|zinc finger transcription factor Pegasus protein-coding 735591 IL10 interleukin 10 The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. [provided by RefSeq] 1579929,1580478,1580479,1580480,1580481,1580494,2307272,2308946,2308951,2308943,2308948,2308949,2311048,2311054,2311056,2311057,2308950,2311060,2311058,2311052,2311053,2306925,2311059,2308942,2308945,2308947,2307061,1580863,1598487,1358665,1598465,1598466,1598469,1598471,1598472,1598477,1598480,1598481,1598483,1598484,1598486,1598621,1598622,1598623,1598624,1598625,1598626,1598627,1598628,1598629,1598630,1598632,2311047,2317660,2317654,2317655,2317658,2317659,2317653,4142510,4140426,4140460,4143221,4140458,4140459,4140451,4140463,4140425,4142511,4142530,4140398,4140400,4143231,4140421,4140467,4140470,4140417,4140396,4140420,4140455,4140471 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1579929,1580478,1580479,1580480,1580481,1580494,2307272,2308946,2308951,2308943,2308948,2308949,2311048,2311054,2311056,2311057,2308950,2311060,2311058,2311052,2311053,2306925,2311059,2308942,2308945,2308947,2307061,1598487,1358665,1598465,1598466,1598469,1598471,1598472,1598477,1598480,1598481,1598483,1598484,1598486,1598621,1598622,1598623,1598624,1598625,1598626,1598627,1598628,1598629,1598630,1598632,2311047,2317660,2317654,2317655,2317658,2317659,2317653,4142510,4140426,4140460,4143221,4140458,4140459,4140451,4140463,4140425,4142511,4142530,4140398,4140400,4143231,4140421,4140467,4140470,4140417,4140396,4140420,4140455,4140471 3586 NM_000572,NG_012088,AF295024,AF418271,AL513315,CH471100,DQ217938,U16720,X78437,AF043333,AY029171,BC022315,BC104252,BC104253,CR541993,CR542028,M57627,GQ405199 NP_000563,AAK19173,AAL06594,CAH71813,EAW93524,ABB01008,AAA80104,CAA55201,AAC03534,AAK38162,AAI04253,AAI04254,CAG46790,CAG46825,AAA63207,P22301,Q6FGS9,Q6FGW4,Q6LBF4,Q71UZ1,Q9BXR7,ACV30066 Hs.193717 CSIF|IL-10|IL10A|MGC126450|MGC126451|TGIF cytokine synthesis inhibitory factor|interleukin-10 1643243 BW132_H protein-coding 731000 IL10RA interleukin 10 receptor, alpha The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq] 1580863,2316323 19798061,15489334,15340161,15063762,12759436,12673894,12591723,12496489,12477932,12374810,12133952,12093920,12023331,11717514,11591769,11490020,11254683,10563471,10433356,10231374,9312047,8897595,8662928,8248239,7814035,7759550,7544437,7540068,20568250,20811626,20976276,8120391,11485736,15837194,8407942,19527514,19409109,19336370,19258923,19019335,19016528,19012493,18818748,18800073,18676680,18674658,18633131,18365030,18344594,18308712,17988330,17961716,17845543,17703412,17331973,17152005,17115186,17066477,16971956,16961803,16491350,15729365,19170196,19573080,19625176,19692168,19738620,19772791,19773279,19773451,19890111,20232770,20237496,20299965,20331378,20424473,20452482,20453000,20463618,20478055,20503287,20531015,19913121,20588308,20617924,20628086,20673868 2316323 3587 NM_001558,AP002962,AY195619,CH471065,EF444988,AB209626,AK291645,AK301260,AK301484,AK301492,AK313049,AK316146,AK316342,BC028082,NR_026691,BM193545,CA307153,U00672,NG_016275 NP_001549,AAN86349,EAW67343,ACA06005,BAD92863,BAF84334,BAG62826,BAG62998,BAG63003,BAH14517,BAH14713,AAH28082,AAA17896,Q13651,Q59F35,ABM81957,ABM84646 Hs.504035 CDW210A|HIL-10R|IL-10R1|IL10R IL-10 receptor subunit alpha|IL-10R subunit 1|IL-10R subunit alpha|IL-10RA|interleukin-10 receptor alpha chain|interleukin-10 receptor subunit 1|interleukin-10 receptor subunit alpha protein-coding 1345772 IL10RB interleukin 10 receptor, beta The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq] 1580863 11485736,11450494,11416224,10875937,10830953,10077530,9047351,7563119,18588853,17703412,17567994,17152005,17062437,16344560,16109775,15985167,15489334,15340161,15178681,12477932,12469119,20140262,20568250,20800603,20811626,20976276,10954742,12483210,8314576,9463407,9312047,19527514,19409109,19295315,19258923,19019335,18818748,18715339,18675824,18674658,19573080,19577285,19714778,19773279,19773451,19890111,20087947,20237496,20424473,20503287,19913121,20628086 3588 NM_000628,NG_012089,AP000295,AY323826,CH471079,U08988,AK124057,AK299961,AK313348,AU133530,BC001903,BT009777,CR601076,CR618901,Z17227 NP_000619,AAP72016,EAX09840,EAX09841,AAA86872,BAC85761,BAG61787,AAH01903,AAP88779,CAA78933,Q08334,Q6ZVU9,ABM83478,ABM86689 Hs.654593 CDW210B|CRF2-4|CRFB4|D21S58|D21S66|IL-10R2 IL-10 receptor subunit beta|IL-10R subunit 2|IL-10R subunit beta|IL-10RB|OTTHUMP00000221101|cytokine receptor class-II CRF2-4|cytokine receptor class-II member 4|cytokine receptor family 2 member 4|cytokine receptor family II, member 4|interleukin-10 receptor subunit 2|interleukin-10 receptor subunit beta protein-coding 736550 IL11 interleukin 11 The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. [provided by RefSeq] 1580863 2145578,1828438,7867561,7508917,19258923,19121317,18987331,18941632,18490653,18433382,18204920,17713553,17703412,17702845,17332920,17325843,17295091,17000646,16964382,16759877,16709613,16614887,16189514,16149067,15784719,15614128,15613426,15543003,15504551,15489334,15389536,15381181,15377473,15307108,15121272,15025215,15004839,14734714,12819039,12760902,12740032,12629504,12584029,12569176,12486609,12477932,12197884,12032273,12005542,11940481,10948192,10725745,10504396,10026196,8940087,8913282,8383296,7670098,7499280,1386338,1292471,20553623,19213836,19223152,19251839,19548631,19647472,19716605,19801577,19913506,20008143,20360315,20503287 3589 NM_000641,AC020922,AY207429,CH471135,M81890,AK290572,AK298973,AK315294,BC012506,M57765,X58377 NP_000632,AAO13493,EAW72371,BAF83261,BAG61067,BAG37700,AAH12506,AAA59132,CAA41266,P20809 Hs.467304 AGIF|IL-11 adipogenesis inhibitory factor|interleukin-11|oprelvekin protein-coding 732444 IL11RA interleukin 11 receptor, alpha Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Alternative splicing has been observed at this locus, and three variants encoding two different isoforms have been identified. [provided by RefSeq] 20553623,7670098,18941632,17332920,16964382,16614887,16344560,16291580,15512823,15489334,14744752,14702039,14701802,12569176,12477932,12200462,11498264,11315919,11241561,11181995,11141475,10504396,10026196,9632650,8786120,8808281,18987331,19423540,20406964,20438785,19913121,20628086 3590 NM_004512,NM_147162,NM_001142784,AL162231,AY532110,CH471071,U32323,Z46596,AI377039,AK075530,AK094689,AK292073,BC003110,BT009864,CR605741,CR626348,DA917660,U32324,Z38102,Z46595 NP_004503,NP_671518,NP_001136256,CAH69857,CAH69858,AAS00093,EAW58422,EAW58423,EAW58424,EAW58425,EAW58426,AAB36491,BAG52913,BAF84762,AAH03110,AAP88866,AAB36492,CAA86224,CAA86570,Q14626,Q5VZ79,ABM83268,ABM86474 Hs.591088 MGC2146 IL-11 receptor subunit alpha|IL-11R subunit alpha|IL-11R-alpha|IL-11RA|interleukin 11 receptor, alpha chain 1|interleukin-11 receptor alpha chain|interleukin-11 receptor subunit alpha protein-coding 1349516 IL11RB interleukin 11 receptor, beta 3591 1351047 IL12A interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq] 1580863 18419254,18413324,18385764,18311140,18300344,18190588,18159163,18092318,18050195,17947455,17922692,17881511,17846855,17703412,17671745,17653830,17640324,17627763,17564777,17553352,17509455,17461482,17444864,17361014,17304101,17257312,17236132,17225924,17152005,17062130,17007011,17002904,16961803,16938461,16885196,16803996,16754651,16702372,16573560,16544245,16230423,15963597,15937086,15863393,15810889,15741223,15643599,15489234,15448160,15361128,15356557,15170937,15087447,15051764,14962816,14675394,14660053,14629328,14566095,12944981,7605994,8557999,14718574,19594368,19573080,19566870,19543959,19508433,19505916,19470040,19458352,19454678,19408823,19376105,19339796,19332120,19299334,19297619,19258923,19230467,19200845,19148899,19144161,19126646,19118071,19117745,19074885,19073967,19031096,19012493,18976327,18972297,18805825,18773331,18717726,18676680,18672993,18671862,18633131,18632425,18628242,18606709,18588867,18566447,18554158,20634089,20555355,20568250,20716621,20960273,21044109,21086908,8992506,12911539,1674604,1673147,9342359,10899108,16942485,7903063,1357073,9789052,2204066,12372421,12672403,12633940,12576336,12558814,12542496,12477932,12472178,12444143,12358856,12270766,12242445,12213961,12117904,11940489,11751963,10320373,10089131,9671213,9616161,9603732,9516412,9334723,8760829,8700208,7695626,1358798,1350290,10352291,9712080,9158092,15331709,14764743,11087201,9225992,8648753,12719551,7867080,9108403,17077296,14597672,12370346,15956545,15817944,15780175,15142381,934235,7527811,20551083,20372811,16482511,19088061,16456693,16548883,16862120,19170196,19525953,19625176,19646340,19692168,19693089,19710469,19773279,19789190,19797506,19798410,19879194,19885559,19950173,19956842,20027291,20054003,20060272,20061784,20082482,20190752,20213229,20237496,20331378,20350312,20418110,20452482,20453000,20503287,20521253,20544370,7516408,11114383,20231901,19913121,20485444,20581146,20603050,20628086,20639880,20647273,20673868,20818961 3592 AF404773,NM_000882,AC010370,AF050083,CH471052,AF101062,AF180562,AW472810,BC035571,BC104982,BC104984,BG702253,M65271,M65291,HH821934,CS498405 NP_000873,AAC05211,AAC05212,AAK84425,EAW78656,EAW78657,EAW78658,AAD16432,AAD56385,AAI04983,AAI04985,AAA35694,AAA59937,P29459,Q7LDP2,CBX32667,CAM82732 Hs.673 CLMF|IL-12A|NFSK|NKSF1|P35 CLMF p35|IL-12 subunit p35|IL-12, subunit p35|NF cell stimulatory factor chain 1|NK cell stimulatory factor chain 1|OTTHUMP00000213704|OTTHUMP00000213705|cytotoxic lymphocyte maturation factor 1, p35|cytotoxic lymphocyte maturation factor 35 kDa subunit|interleukin 12, p35|interleukin-12 alpha chain|interleukin-12 subunit alpha|natural killer cell stimulatory factor 1, 35 kD subunit protein-coding 1353629 IL12B interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq] 1600042,1600043,1580863,4145421,4145430,4831840,4888529,4889581,4888507,4145426,4145423,4145428,4145438 1674604,10899108,9789052,1673147,16942485,7903063,8992506,19573080,19557577,19554267,19525409,19505916,19495883,19487916,19435421,19422935,19419334,19342681,19328947,19279357,19274925,19264456,19262574,19258923,19249008,19247692,19210338,19185507,17388919,17347151,17327408,17236132,17172248,17152005,17148969,16966828,16948912,16789008,16772281,16750991,16712658,16681592,16637265,16600026,16574246,16514412,16216674,16210052,16100774,16039994,16005098,15993716,15988104,15941730,15937086,15871664,15869883,15858599,15837792,15644581,15620465,15603869,15523691,15489334,15483662,15482860,15464247,15448160,15356557,15322986,15295696,15285014,15102082,15057902,15007350,15004750,14976188,14962816,14746806,14679201,14675396,14551880,12914676,12876411,12857749,12672403,12542496,12477932,12472178,12424627,12424624,12413772,12297341,12270766,12241719,12207325,12202149,12117918,12117904,12100467,12086971,12065887,11978670,11972887,11940489,11820460,11813133,11753820,11751963,11197695,11196715,11114383,11110796,10890924,10419056,10320373,19760754,20568250,20711808,20716621,20802378,20811626,20953186,21072187,20953190,20236616,19174780,10207176,9108403,20372811,19169255,19169254,19134014,19118071,19035472,19019824,19012493,18834321,18827961,18821674,18800148,18717726,18703108,18680750,18676680,18633131,18632587,18631256,18628242,18619507,18606709,18588591,18587394,18563338,18557702,18522869,18512797,18497679,18485489,18449199,18438406,18422730,18413324,18389618,18383521,18369459,18367309,18341612,18319400,18300039,18240960,18219280,18192685,18190588,18163209,18092318,18086266,18082575,18075513,18048021,18034172,17994425,17993580,17945537,17932439,17901940,17889143,17881511,17846855,17703412,17653830,17644387,17587057,17579859,17567674,17564777,17554261,17513774,17509455,17504509,17477815,17445208,17403771,17392024,9854038,9700192,9671213,9603733,9603732,9516412,8799158,8760829,8551218,7843232,7836910,7698768,7695626,7565674,7527811,7527439,2204066,2070420,1358798,10352291,9712080,9158092,15331709,14764743,11087201,9225992,8648753,12719551,7867080,20483637,20551083,12421946,15114670,15265908,16482511,16751425,17888176,19088061,19170196,19258635,19516896,19625176,19646340,19683555,19692168,19705136,19733878,19773279,19773451,19782084,19819209,19832040,19838195,19860911,19861958,19956104,20003322,20014019,20016509,20027321,20054003,20060272,20105444,20145925,20217072,20237496,20331378,20350312,20371868,20387064,20395963,20399512,20416077,20452482,20453000,20503287,20521253,20525402,20953188,20349123,20621951,17207965,20061784,20653817,20570966,12023369,18675459,21055733,19913121,20485444,20530519,20544370,20628086,20653995,20658240,20673868 1600042,1600043,4145421,4145430,4831840,4888529,4889581,4888507,4145426,4145423,4145428,4145438 3593 NM_002187,NG_009618,AC011418,AF512686,AY008847,AY064126,CH471062,U89323,AF180563,AY046592,AY046593,BC067498,BC067499,BC067500,BC067501,BC067502,BC074723,M65272,M65290 NP_002178,AAM34792,AAG32620,EAW61576,AAD56386,AAL05890,AAL05891,AAH67498,AAH67499,AAH67500,AAH67501,AAH67502,AAH74723,AAA35695,AAA59938,P29460,Q8N0X8,ADQ32054 Hs.674 CLMF|CLMF2|IL-12B|NKSF|NKSF2 CLMF p40|IL-12 subunit p40|IL12, subunit p40|NK cell stimulatory factor chain 2|cytotoxic lymphocyte maturation factor 40 kDa subunit|interleukin 12, p40|interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2|interleukin-12 beta chain|interleukin-12 subunit beta|natural killer cell stimulatory factor, 40 kD subunit protein-coding 1349194 IL12RB1 interleukin 12 receptor, beta 1 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The lack of expression of this gene was found to result in the immunodeficiency of patients with severe mycobacterial and Salmonella infections. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 20568250,20716621,20811626,20345976,8943050,7911493,19258923,19249008,19247692,19240061,19074885,18940359,18591412,18493823,18478121,17703412,17403771,17392024,17284226,17236132,17222831,17152005,16159888,16088278,16084898,15993716,15941730,15243935,15178580,15063762,15004750,12743658,12719941,12671732,12596048,12594833,12496448,12477932,12023369,12020266,11857344,11424023,11114383,10415122,9637763,9603733,9469420,9373149,9284929,8958915,8125298,7843232,7527811,9038232,12421946,14635048,15114670,19460324,19573080,19773279,19773451,19817957,19839503,20060272,20237496,20350312,20399512,20424473,20452482,20453000,20503287,20525402,20855390,19913121,20628086,20639880,20673868 3594 NM_005535,NM_153701,NG_007366,AC020904,AJ297688,AJ297689,AJ297690,AJ297691,AJ297692,AJ297693,AJ297694,AJ297695,AJ297696,AJ297697,AJ297698,AJ297699,AJ297700,AJ297701,AY771996,CH471106,AK225919,AK290423,BC029121,BC137404,BC137406,BX647221,U03187 NP_005526,NP_714912,CAC10446,AAV28734,EAW84653,EAW84654,EAW84655,EAW84656,BAF83112,AAH29121,AAI37405,AAI37407,AAA21340,P42701,ACE87635,ACE87683,ACE86947,ACE86994 Hs.567294 CD212|IL-12R-BETA1|IL12RB|MGC34454 IL-12 receptor beta component|IL-12 receptor subunit beta-1|IL-12R subunit beta-1|IL-12R-beta-1|IL-12RB1|interleukin-12 receptor beta-1 chain|interleukin-12 receptor subunit beta-1 protein-coding 1346577 IL12RB2 interleukin 12 receptor, beta 2 The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. [provided by RefSeq] 1580863 20568250,20716621,8943050,19258923,18927311,18771340,18715339,18474725,18353079,17703412,17622942,17236132,17152005,15976343,15901746,15489334,15140029,15004750,14559241,12804004,12768436,12743658,12719941,12477932,11940489,11441083,11438525,11306945,10663559,10600539,10415122,10198225,9890938,9605872,9498755,9284929,9120388,8401589,7911493,9038232,17602269,19458352,19573080,19604093,19720917,19773279,20060272,20237496,20350312,20424473,20452482,20503287,20525402,20639880,11114383,19913121,20622878,20622879,20628086,20673868 3595 NM_001559,AF349574,AL358512,AL389925,AY640177,CH471059,AK294494,AK300020,AK310837,AK316525,BC104772,BC104774,BC143248,BC143249,BC143250,BC143252,U64198 NP_001550,CAH69960,CAH70407,CAH70409,AAT45456,EAX06499,EAX06500,BAG57715,BAG61833,BAH14896,AAI04773,AAI04775,AAI43250,AAB36675,Q99665 Hs.479347 RP11-102M16.1 IL-12 receptor beta 2|IL-12 receptor subunit beta-2|IL-12R subunit beta-2|IL-12R-beta-2|IL-12RB2|interleukin-12 receptor beta-2 chain|interleukin-12 receptor subunit beta-2 protein-coding 69008 IL13 interleukin 13 This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq] 2301685,2301686,2290344,1580863,2317669,2317670,2290347,4146242,4765128,4145600,4145596,4763761,4145453,4145474,4145777,4206706,4220633,4145506,4145512,4888530,4889497,4145639,4145664,4145714,4145737,4145775,4146241,4312589,4321828,4145627,4145765,4888529,4145665,4145776,4145508,4159171,4145524,4145601,4145641,4145647,4145650,4145454,2307110,1581860,4145774,4145779,4145649,4145652,4761594,4142792,4145526,4145668,4145500,4759835,4145466,4145534,2314537,4145528,4145637,4145496,4145767,4782826,4763153,4145593,4145654 19739097,17560640,17548690,17543424,17517104,17451413,17418380,17388919,17355643,17347445,17346294,17313976,17303923,17303794,17291854,17287067,17284225,17264150,17251453,17235327,17209513,17201240,17183946,17182591,17142763,17097743,17091279,17090525,17082655,17016624,17006604,17001290,16987060,16961803,16951338,16918506,16914241,16867043,16849505,16832637,16751012,16750991,16702372,16681592,16522370,16493441,16461126,16428771,16403098,16388492,16387595,16327802,16315031,16303333,16272823,16236836,16210662,16200868,16195814,16166103,16133987,16101942,16046318,16034134,16024972,16024651,16001979,15969687,15951665,15919378,15904474,15879126,15870068,15869882,15845862,15820084,15731584,15728267,15713213,15711639,15699166,15687724,15661077,15660293,15642470,15634905,15596681,15528258,15488706,15483090,15474066,15388001,15361241,15356573,15356556,15315330,15308043,15229217,15191916,15187156,15163899,15163701,15155645,15155567,15146247,15014952,15007355,15007352,15005726,15004182,14984938,14983029,14764428,14756548,14734771,14669230,14634100,14564352,14561191,14551608,14512310,14510917,12944981,12935900,12928861,10753117,10699178,10651852,10227975,9856950,9856949,9139718,8605348,8099936,8097324,7721105,7530359,7521694,1408833,10623799,12089333,9226003,16375755,20194818,20140262,20568250,20703737,20800603,20802378,20811626,20942272,20975284,21061265,21071541,20589076,10725748,18243101,8096327,9177784,19527514,19515749,19505916,19479237,19420105,19417211,19333920,19326508,19264973,19263529,19262574,19258923,19254294,19251840,19247692,19225544,19222422,19220774,19192232,19190772,19178408,19169254,19131662,19131452,19122650,19116009,19109239,19074885,19019335,19011907,19005922,18989750,18974840,18949100,18941246,18931892,18931077,18927306,18849614,18818748,18815020,18712166,18699941,18691306,18688040,18676870,18676680,18674658,18633131,18625055,18551035,18545091,18506597,18497474,18441098,18441092,18418228,18417506,18410779,18410415,18403443,18395486,18385759,18348727,18341619,18312531,18296848,18296657,18273035,18263811,18251702,18243827,18204280,18186920,18073124,18056382,18037162,18028994,18006935,17911623,17883727,17868461,17717322,17703412,17644317,17623648,17615386,17603012,17597813,17563406,17561245,12884288,12794003,12748907,12748293,12704784,12682264,12654630,12594065,12548511,12525574,12477932,12441140,12424628,12413765,12396617,12377947,12370400,12370393,12223527,12207328,12189139,12165514,12163193,12152987,12145428,12097410,12089714,12067309,12063528,11980568,11940068,11830476,11825773,11786536,11709756,12920029,12897746,11678850,11588017,11396683,11278629,11197307,11149986,11003391,19575932,19796199,19913121,20406594,20530519,20536507,20572918,20603037,20628086,20644561,20368097,16275384,19141347,19170196,19231232,19332998,19470259,19487697,19507063,19536153,19554022,19555572,19559392,19573080,19578876,19586918,19602238,19625176,19635933,19654941,19659863,19674346,19692168,19706316,19706623,19726720,19729601,19759281,19772762,19773279,19773451,19789190,19840389,19862939,19910508,19933216,19948975,19968504,19995275,20051514,20085599,20093796,20107485,20159242,20177070,20198887,20207250,20208004,20219689,20224668,20236697,20237496,20299965,20306654,20332709,20358028,20394509,20395963,20403202,20403914,20418110,20418295,20444155,20453000,20484924,20485362,20503287,20860503,20543112,20652946 2301685,2301686,2290344,2317669,2317670,2290347,4146242,4765128,4145600,4145596,4763761,4145453,4145474,4145777,4206706,4220633,4145506,4145512,4888530,4889497,4145639,4145664,4145714,4145737,4145775,4146241,4312589,4321828,4145765,4888529,4145665,4145776,4145508,4159171,4145524,4145601,4145641,4145647,4145650,4145454,2307110,1581860,4145774,4145779,4145649,4145652,4761594,4142792,4145526,4145668,4145500,4759835,4145466,4145534,2314537,4145528,4145637,4145496,4145767,4782826,4763153,4145593,4145654 3596 NM_002188,NG_012090,AC004039,AF172149,AF172150,AF193838,AF193839,AF193840,AF377331,AF416600,AY008331,AY008332,CH471062,L13029,L42079,L42080,U10307,U31120,AF043334,BC096138,BC096139,BC096140,BC096141,L06801,X69079,HI573912 NP_002179,AAK53823,EAW62324,EAW62325,EAW62326,EAW62327,AAA83738,AAB01681,AAC03535,AAH96138,AAH96139,AAH96140,AAH96141,AAA36107,CAA48823,CAA48824,P35225,Q4VB50,Q4VB51,Q4VB53,CBX47445 Hs.845 ALRH|BHR1|IL-13|MGC116786|MGC116788|MGC116789|P600 interleukin-13 protein-coding 1347132 IL13RA1 interleukin 13 receptor, alpha 1 The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq] 1580863 21071541,12935900,18243101,9013879,9083087,19258923,18029348,17703412,17392323,17006604,16918506,15870068,15489334,14527737,12594065,12522691,12477932,12354755,12223527,11939409,11278629,11058569,11003391,10409622,8910586,7569905,19913121,20628086,19586918,19654941,20237496,20503287 3597 NM_001560,AB031393,AL391280,CH471161,AB209849,AK123515,AK296958,AK313467,BC009960,BC015768,CR603161,U81379,U81380,Y09328,Y10659,NG_012841 NP_001551,CAI41409,CAI41410,EAW89893,EAW89894,BAD93086,BAC85635,BAG59502,BAG36253,AAH09960,AAH15768,AAD00510,AAD00511,CAA70508,CAA71669,P78552,Q59EG2,Q5JSL4,Q6ZW70,Q96BB4,Q9UDY5,ABM84380,ABM87295 Hs.496646 CD213A1|IL-13Ra|NR4 CD213a1 antigen|CT19|IL-13 receptor subunit alpha-1|IL-13R subunit alpha-1|IL-13R-alpha-1|IL-13RA1|IL13 receptor alpha-1 chain|bB128O4.2.1 (interleukin 13 receptor, alpha 1)|cancer/testis antigen 19|interleukin-13 receptor subunit alpha-1 protein-coding 1347847 IL13RA2 interleukin 13 receptor, alpha 2 The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq] 1580863 20014020,9725226,9083087,19491224,19258923,19149920,19010904,18802068,18694590,18677476,18564628,18559603,18430795,18307523,21071541,18172271,18028464,18024961,17917751,17804706,17703412,17560640,16981293,16902988,16751396,16327802,15870068,15772651,15489334,12816724,12485861,12477932,12445201,12231526,11786536,11352909,11003391,9177784,9130652,8663118,20673868,19654941,19887609,20007572,20068108,20237496,20452482,20503287,20729386,20543112,20805641,20971924 3598 NM_000640,NG_012514,AL121878,AY656702,CH471120,AK291957,AK308523,AK309444,BC020739,BC033705,CR594473,CR623092,U70981,X95302,Y08768,GQ494004 NP_000631,CAD18962,AAT49099,EAX02621,EAX02622,BAF84646,AAH20739,AAH33705,AAB17170,CAA64617,CAA70021,Q14627,ABM85056,ABW03720,ACX47590 Hs.336046 CD213A2|CT19|IL-13R|IL13BP IL-13 receptor subunit alpha-2|IL-13R subunit alpha-2|IL-13R-alpha-2|IL-13RA2|OTTHUMP00000023871|cancer/testis antigen 19|interleukin 13 binding protein|interleukin 13 receptor alpha 2 chain|interleukin-13 receptor subunit alpha-2|interleukin-13-binding protein protein-coding 737535 IL15 interleukin 15 The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq] 1626609,1626612,1626618,1626616,1626610,2313573,2313574,2313575,2313577,2313578,1580863 20166880,20671116,17537415,17363780,17324400,17158609,17142786,17110377,17001647,16791279,16772281,16670327,16629787,16606671,16507118,16474399,16333313,16273100,16148110,16136475,16109314,16098919,16060678,16024007,15993713,15976176,15943034,15778359,15770395,15713701,15710591,15598425,15563472,15557159,15536127,15531573,15489334,15358647,15353479,15347678,15328153,15284244,15225634,15131572,15039446,15034035,14984938,14982947,14967307,14762166,14702039,14684414,14662842,14648805,20414345,20331472,20381491,20732850,20736143,20140262,20568250,20631381,21048031,21049047,14617758,12421959,16284400,8178155,10851076,7759105,14718574,19593212,19573080,19527514,19505916,19414780,19414770,19414768,19406127,19325034,19258923,19247692,19240061,19237603,19233474,19188921,19176441,19133918,19088135,19047106,19019335,18981132,18840707,18818748,18782269,18706446,18697873,18676680,18656487,18633131,18583567,18580966,18524812,18523245,18514540,18509087,18505820,18493981,18493613,18482208,18431516,18424079,18419254,18365236,18348982,18311795,18295891,18280748,18275895,18086532,17986095,17982063,17964972,17947730,17938255,17703412,17655329,17635814,17616399,17554368,14607946,14607929,14581351,14499665,12960322,12865812,12857602,12847234,12826231,12805064,12759422,12757260,12747456,12734346,12623850,12598649,12571184,12542496,12477932,12453470,12401478,12393488,12391205,12379638,12297341,12237122,12165497,12147628,12115611,12114302,12089714,11972069,11919076,11876762,11830476,11814312,11807773,11751999,11746271,11702064,11680634,11581322,11369758,11287118,11168804,11134366,11134140,10869346,10784451,9405632,9176231,8977197,8932977,8668345,8568232,8026467,7641685,7568001,12089333,17077296,11122241,10388525,16427155,19913121,20622171,20628086,19170196,19546878,19570824,19592095,19625176,19657406,19692168,19696432,19710458,19756346,19773279,19796965,19835475,19949092,20007590,20043070,20083555,20153259,20190192,20237496,20444155,20453000,20483740,20503287,16482511,19703339,20430958,20142427,20538758 1626609,1626612,1626618,1626616,1626610,2313573,2313574,2313575,2313577,2313578 3600 NM_172174,NM_000585,AC096774,AC118480,AF176907,CH471056,CS112464,CS163144,X91233,AF031167,AK122993,AK290619,AY720442,BC018149,BC100961,BC100962,BC100963,CA443264,CR541980,CR542007,CR617455,CR617480,CX761071,CX785233,U14407,X94222,X94223,Z38000,HC087890,CS401671,GM040149 NP_751914,NP_000576,EAX05083,EAX05084,EAX05085,EAX05086,EAX05087,CAJ13397,CAJ32191,CAA62616,AAB97518,BAG53839,BAF83308,AAU21241,AAH18149,AAI00962,AAI00963,AAI00964,CAG46777,CAG46804,AAA21551,CAA63913,CAA63914,CAA86100,P40933,Q6FGX7,ABM92165,ABM84635,ABM84636,CBI67687,CAL40354,CAS97649 Hs.654378 IL-15|MGC9721 interleukin-15 protein-coding 1313009 IL15RA interleukin 15 receptor, alpha The protein encoded by this gene is a cytokine receptor that specifically binds IL15 with high affinity. The receptors of IL15 and IL2 share two subunits, the IL2R beta and IL2R gamma chains. This forms the basis of many overlapping biological activities of IL15 and IL2. The IL2 receptor requires an additional IL2-specific alpha subunit for high affinity IL2 binding. This protein is structurally related to IL2R alpha, but is capable of binding IL15 with high affinity independent of other subunits, which suggests the distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported. The full length sequences of only two variants encoding distinct isoforms are available. [provided by RefSeq] 1580863 17703412,17655329,17363735,17121316,16757567,16377614,16308569,16060678,15531573,15489334,15265897,15263076,15164054,15039446,12477932,12115611,12114302,12045244,11777964,11714793,11418623,11160322,11064452,10480910,9110174,8619474,8104057,17948125,7641685,16284400,8530383,19309557,19258923,19240061,18676680,18656487,18633131,18514540,18505820,18483276,18287585,16385451,19170196,19406127,19505916,19625176,19692168,19696432,20237496,20424473,20453000,20503287,20671116 3601 NM_172200,NM_002189,AF283296,AL137186,AY316538,CH471072,AK304211,AF035279,BC065506,BC074726,BC107777,BC121140,BC121141,BM546106,CR457064,CR542023,CR607367,CR609337,U31628,AA847313,DC298692,NR_033494 NP_751950,NP_002180,CAI41076,CAI41078,CAI41079,CAI41080,CAI41081,CAI41082,CAI41083,CAI41084,AAP69528,EAW86415,EAW86416,EAW86417,EAW86418,EAW86419,EAW86420,EAW86421,EAW86422,AAB88175,BAG65084,AAH65506,AAH74726,AAI07778,AAI21141,AAI21142,CAG33345,CAG46820,AAC50312,Q13261,Q3B769,Q5JVA0,Q5JVA1,Q5JVA3,Q5JVA6,Q5JVA7,Q5JVA8,Q6P0Q3 Hs.524117 MGC104179 OTTHUMP00000019023|OTTHUMP00000019024|OTTHUMP00000019026|interleukin-15 receptor subunit alpha protein-coding 1349175 IL15RB interleukin 15 receptor, beta 3602 1351288 IL16 interleukin 16 (lymphocyte chemoattractant factor) The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9144227,19476022,19298795,19258923,19240061,19074885,19073878,19066394,18768901,18676870,18633131,18446062,18394967,18264096,18097041,18006695,17703412,17577790,18029348,20800603,20802378,20811626,21071540,15682385,16271292,6729885,17576577,17537415,17303923,17221335,16455991,16447204,16387589,16189514,16178875,16177102,16144798,15886011,15820794,15784111,15619436,15560757,15383572,15342983,15253385,15187155,15175077,14755377,14734747,14718574,14705216,14702039,14657881,12923170,12620798,12477932,12450396,12191564,11999883,11937573,11714796,11032842,10479680,10477592,10438516,10343113,9990060,9743378,9699630,9422780,9373149,9271307,8977168,8609984,8125298,7910967,7615501,1851800,8599832,16375755,16344560,17551575,18821565,19232499,19758567,19773451,19789190,19906316,20079227,20237496,20503287,20529140,21036918,19913121,20628086,20662556 3603 AY324389,BC040272,BC050362,BC064911,BC136660,CR749286,FJ032370,M90391,S81601,U82972,AL833554,NM_004513,AC036196,AC103858,AF077011,AF121105,AY497901,CH471136,AF053412,AK124565,AK124725,AK126222,AK128740,AK131530,AK222512,AK303659,AK308440,AL109669,NM_172217,AL109774,DB141707,NM_001172128 Q8IUU6,Q9UME6,AAQ86961,AAH40272,AAH50362,AAI36661,CAH18141,ACI00236,AAD04636,AAB36371,AAB58261,Q05BE6,Q14005,Q53HR8,Q68DS9,Q6ZTT5,Q6ZVH3,NP_757366,NP_004504,AAD15990,AAR89904,EAW99098,EAW99099,EAW99100,EAW99101,AAC12732,BAC85888,BAC86494,BAG54724,BAD18668,BAD96232,BAH14009,NP_001165599 Hs.459095 FLJ16806|FLJ42735|FLJ44234|HsT19289|IL-16|LCF|NIL16|PRIL16|prIL-16 OTTHUMP00000185571|OTTHUMP00000190849|OTTHUMP00000190850|lymphocyte chemoattractant factor|neuronal interleukin 16|pro-interleukin-16|prointerleukin 16 protein-coding 735883 IL17A interleukin 17A The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq] 729041,1580863,4839043,4841878,4846398,4831836,4832829,4781444,4888509,4781448,4781452,4889102,4889153,4888523,4888529,4831923,4837793,4831840,4888507,4888519,4888522,4888524,4888527,4888531,4889101,4889103,4889110,4889847,4888520,4889113,4889146,4889105,4889114,4889115,4889130,4889132,4889137,4889143,4889139,4143277,4889144,4888525,4889104,4889106,4889151,4838736,4888521,4889152,4888528,4889150,4888526,2325816,4888513 7499828,8390535,16982811,19627579,19620772,19587005,19535626,19479869,19476112,19457169,19439651,19428338,19426392,19424201,19414056,19343046,19339380,19333939,19329213,19325128,19322214,19273860,19265168,19265112,19258923,19255340,19244159,19242409,19240794,19239321,19235914,19234216,19210369,19208686,19201028,19199539,19187277,19177575,19131064,19127457,19124735,19079215,19075290,19056110,19050297,19050268,19014637,18992745,18941244,18941201,18941172,18926293,18832156,18802458,18802076,18793860,18786233,18769923,18684981,18684971,18669891,18663128,18617638,18615114,18602680,18600325,18591412,18591410,18588867,18585926,18579762,18512780,18501882,18483277,18446062,18440075,18434325,18432274,18400187,18392953,18373953,18362142,18337720,18329249,18311821,18311793,18203309,18157139,18156204,18097022,18092129,18079209,18075825,17982039,17965778,17912466,17876645,17828618,17703412,17682667,17644317,17635957,17613395,17545490,17384030,17083726,16859642,16533341,16419159,15972674,15916703,15845864,15811056,15811054,15642151,15535837,15489334,15459204,15388258,15340161,15321994,15305382,15218177,15025215,14718574,12772186,12721789,12667656,12477932,12421973,12417590,12297109,12183057,12165487,20167120,20515574,20395418,20445554,20825419,21048031,21062626,20357253,20357258,16207434,20106535,20107878,20350814,20511548,20511558,20810982,20848848,20207161,20563617,21044126,17486092,11936535,11472426,10328864,10225978,9973514,9878122,9765276,9764847,9518462,9367539,8676080,19968632,19485773,20299682,20581151,20592279,20620187,20646637,20493423,20664052,21091665,17888176,16008887,19174010,19226302,19247658,19260856,19295614,19347604,19404732,19431078,19476435,19479806,19483719,19487306,19536281,19543237,19545679,19550095,19589271,19628296,19672092,19692128,19700754,19724898,19728295,19737863,19741026,19741298,19748982,19797506,19822653,19825828,19830738,19835883,19838198,19843935,19844129,19857751,19878510,19895848,19904747,19907660,19912248,19912249,19912251,19912252,19917178,19929695,19931506,19936899,19940509,19969371,20016509,20026736,20026744,20032993,20042592,20061410,20070409,20099977,20112373,20127054,20159251,20173024,20173782,20200272,20228195,20228199,20228201,20237496,20352428,20379614,20418110,20437253,20503287,20665551,20685755,20974984,17207965,20533542,20596087,20720207,20814021,20305686,20334681,20624941,20596075,20718783 729041,4839043,4841878,4846398,4831836,4832829,4781444,4888509,4781448,4781452,4889102,4889153,4888523,4888529,4831923,4837793,4831840,4888507,4888519,4888522,4888524,4888527,4888531,4889101,4889103,4889110,4889847,4888520,4889113,4889146,4889105,4889114,4889115,4889130,4889132,4889137,4889143,4889139,4143277,4889144,4888525,4889104,4889106,4889151,4838736,4888521,4889152,4888528,4889150,4888526,2325816,4888513 3605 NM_002190,AL391221,AY460616,CH471081,BC066251,BC066252,BC066253,BC067503,BC067504,BC067505,U32659,Z58820,HC025843,CS399132,GM832009 NP_002181,CAI16678,AAR23263,EAX04362,AAH66251,AAH66252,AAH66253,AAH67503,AAH67504,AAH67505,AAC50341,CAA91233,Q16552,Q6NZ94,CBH19852,CAL44889,CAV28580,ADQ32019 Hs.41724 CTLA8|IL-17|IL-17A|IL17 CTLA-8|cytotoxic T-lymphocyte-associated antigen 8|cytotoxic T-lymphocyte-associated protein 8|cytotoxic T-lymphocyte-associated serine esterase 8|interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)|interleukin-17A protein-coding 1352071 IL17B interleukin 17B The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. 724416,1580863 10639155,16805377,15713213,15489334,12975309,12477932,11738356,10749887,16169070,19845895 724416 27190 NM_014443,AC131025,AF386077,CH471062,AF110385,AF152098,AF184969,AF212311,AF218727,AY358931,BC113925,BC113946,CR457192,HC025847,GM663283 NP_055258,AAK60336,EAW61781,EAW61782,AAG39637,AAF28104,AAF01318,AAF78775,AAG44136,AAQ89290,AAI13926,AAI13947,CAG33473,Q6IAG3,Q9UHF5,CBH19854,CAV33843 Hs.156979 IL-17B|IL-20|MGC138900|MGC138901|ZCYTO7 cytokine Zcyto7|cytokine-like protein ZCYTO7|interleukin 20|interleukin-17 beta|interleukin-17B|interleukin-20|neuronal interleukin-17 related factor|neuronal interleukin-17-related factor protein-coding 1351651 IL17C interleukin 17C The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq] 724416,1580863 19913121,20628086,21048031,10639155,15489334,12975309,12477932,11984595,19423540,20056178,20237496,20406964,20438785 724416 27189 NM_013278,AC116552,CH471184,CQ847631,AF152099,AY358471,BC069152,BC069410,BC101835,BC112196,CS407900,CS613997,FB726961,GM008009 NP_037410,EAW66798,CAH18037,AAF28105,AAQ88835,AAH69152,AAI01836,AAI12197,Q9P0M4,CAL40892,CAO02250,CAS97406,CAT03419 Hs.278911 CX2|IL-17C|IL-21|MGC126884|MGC138401 cytokine CX2|interleukin-17C protein-coding 1348652 IL17D interleukin 17D The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq] 1580863 16670296,17068156,15489334,14702039,12975309,12477932,12097364,20237496 53342 NM_138284,AL161772,AL512652,CH471075,AF458062,AF479775,AK123964,AY078238,AY359113,BC036243,FB726946,FB734925,GM040353 NP_612141,CAH70875,CAH71796,EAX08274,EAX08275,EAX08276,AAM77566,AAM12734,AAL86911,AAQ89471,AAH36243,Q8TAD2,ABM81646,CAS97650,CAT03412,CAV30992 Hs.655142 FLJ30846|IL-17D|IL-22|IL-27|IL27 interleukin 27|interleukin-17D|interleukin-27 protein-coding 1322840 IL17F interleukin 17F The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq] 1580863 19724898,19838108,19838198,19904747,20127054,20173782,20210523,20237496,18088064,11591732,11574464,19414056,19263269,19155467,19019635,18830271,18774769,18769923,18684971,20493423,17912466,17828618,17418381,17346928,16961709,16630936,15972674,15703761,15340161,14574404,12477932,11891214,11591768,21044126,20800603,19913121,20618772,20620187,20628086 112744 NM_052872,AL034343,CH471081,AF332389,AF384857,BC070124,CS399130,GM832011 NP_443104,CAD92646,EAX04363,EAX04364,AAL14427,AAK83350,AAH70124,Q96PD4,CAL44888,CAV28581 Hs.272295 IL-17F|ML-1|ML1 IL-24|cytokine ML-1|interleukin-17F|interleukin-24 protein-coding 1315246 IL17RA interleukin 17 receptor A Interleukin 17A (IL17A)is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. [provided by RefSeq] 1580863 9367539,19258923,19244213,18768888,18684971,18348982,18097068,17876645,17703412,17456598,17346928,16805377,16785495,16533341,15972674,15489334,15461802,15340161,12772186,12477932,11966773,11706037,11371660,10591208,11381032,20729198,19235914,20237496,20503287 23765 BU585070,CB044543,XR_109693,XR_112219,XR_115439,NM_014339,AC006946,CH471193,AF021799,BC011624,BC012071,BE242733,CR594472,CT841520,U58917,CS399134,GM832013 NP_055154,EAW57738,EAW57739,EAW57740,EAW57741,AAH11624,CAJ86450,AAB99730,Q96F46,ABM82888,ABM86078,CAL44890,CAV28582 Hs.48353,Hs.129751 CD217|CDw217|IL-17RA|IL17R|MGC10262|hIL-17R IL-17 receptor A|interleukin 17 receptor|interleukin-17 receptor A protein-coding 1322830 IL17RB interleukin 17 receptor B The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq] 1580863 20800603,20545698,10815801,10749887,19118269,18794098,17975144,17453342,17008703,16609019,16609001,16344560,15489334,15340161,14759258,12975309,12477932,11058597,10748240,19913121,20628086,20237496,20453000 55540 NM_018725,AC012467,AY518533,CH471055,CS135264,AF208110,AF208111,AF212365,AF250309,AK307749,AY359122,BC000980,BI458542,CR615594,DA093617 NP_061195,AAR89910,EAW65298,EAW65299,CAJ21520,AAF86051,AAF86052,AAF78776,AAK37428,AAQ89956,AAH00980,Q9NRM6,ABM81855,ABM85016 Hs.654970 CRL4|EVI27|IL17BR|IL17RH1|MGC5245 IL-17 receptor B|IL-17 receptor homolog 1|IL-17B receptor|IL-17RB|IL-17Rh1|OTTHUMP00000212737|cytokine receptor CRL4|cytokine receptor-like 4|interleukin 17 receptor homolog 1|interleukin 17B receptor|interleukin-17 receptor B|interleukin-17B receptor protein-coding 1314983 IL17RC interleukin 17 receptor C This gene encodes a single-pass transmembrane protein that shares limited similarity with the interleukin-17 receptor. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, but the full-length nature of only three have been determined to date. [provided by RefSeq] 18684971,18097068,17911633,16785495,16688746,15489334,15340161,14702039,14504135,12975309,12477932,11706037,9373149,8125298,20173024 84818 BC006411,DC381087,EF676032,EF676033,EF676034,AK075534,AK092907,AK094746,AK096824,AK225650,AK290670,AK294616,AK295377,AK303171,AK308241,AK315024,AK315053,AY358840,AY359098,AF458065,NM_153461,NM_153460,NM_032732,AC018809,CH471055,CS399136,CS399138,GM832015,GM832017,GM832034 AAQ89456,ABV44615,ABV44616,ABV44617,Q8N2D7,Q8NAC3,AAM77569,BAC11677,BAC04001,BAF83359,BAG57799,BAG58336,BAG64270,AAQ89199,NP_703191,NP_703190,NP_116121,EAW64021,EAW64022,EAW64023,EAW64024,EAW64025,EAW64026,EAW64027,EAW64028,EAW64029,EAW64030,EAW64031,EAW64032,CAL44891,CAL44892,CAV28583,CAV28584,CAV28588 Hs.129959 FLJ95963|FLJ96005|IL17-RL|IL17RL|MGC10763 IL-17 receptor C|IL-17RL|IL17F receptor|IL17Rhom|OTTHUMP00000180659|OTTHUMP00000207644|OTTHUMP00000207646|interleukin 17 receptor-like|interleukin-17 receptor C|interleukin-17 receptor homolog|interleukin-17 receptor-like protein|zcytoR14 protein-coding 1353408 IL17RD interleukin 17 receptor D Fibroblast growth factors (FGFs; see MIM 603726) are secreted proteins involved in cellular proliferation, migration, differentiation, and survival. FGF activity is negatively regulated by members of the 'sprouty' family (e.g., SPRY1, MIM 602465). The SEF protein is a modulator of FGF signaling.[supplied by OMIM] 1580863 19079364,18096367,17420726,17035228,16859641,16474841,15489334,15277532,15239952,15146197,14742870,14702039,12975309,12958313,12807873,12604616,12477932,11802165,11802164,10737800,20800603 54756 AC097358,CH471055,AF458067,AF494208,AF494211,AK001251,AK092579,AK093074,AK125591,AK302045,AL133097,AL833913,NM_017563,AY489047,BC038369,BC111702,BF803798,BQ017683,CN302483,AY358774 NP_060033,EAW65329,EAW65330,AAM77571,AAM74077,AAM74080,BAG63437,CAB61408,CAD38769,AAQ89134,AAS15051,AAI11703,Q8NFM7 Hs.150725 DKFZp434N1928|FLJ35755|IL-17RD|IL17RLM|MGC133309|SEF IL-17 receptor D|IL17Rhom|OTTHUMP00000213733|hSef|interleukin-17 receptor D|interleukin-17 receptor-like protein|sef homolog protein-coding 1602300 IL17RE interleukin 17 receptor E This gene encodes a protein that shares limited similarity with the interleukin-17 receptor. The function of the encoded protein has not yet been determined. Three alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq] 20459687,14702039,12975309,12477932,16344560 132014 NM_153480,AC018809,CH471055,AF458069,AK074238,AK096793,AK096801,AK297697,AK298025,AK314476,AY358451,BC035478,BC063110,NM_153483,BC137077,BC137078,DA592287,NM_001193380,CS407885,CS407894,CS613982,CS613991,GM007994,GM008003 NP_705616,NP_705613,EAW64016,EAW64017,EAW64018,EAW64019,EAW64020,AAM77573,BAB85028,BAC04863,BAC04864,BAG60055,BAG60327,BAG37081,AAQ88816,AAH63110,AAI37078,AAI37079,Q8NFR9,NP_001180309,CAL40887,CAL40890,CAO02245,CAO02248,CAS97401,CAS97404 Hs.390823 FLJ23658|MGC71884 IL-17 receptor E|OTTHUMP00000207617|interleukin-17 receptor E protein-coding 1605488 IL17REL interleukin 17 receptor E-like 20228798 400935 NM_001001694,AL022327,CH471138,AK123987 NP_001001694,CAO03519,EAW73487,EAW73488,BAC85743,Q6ZVW7 Hs.526712 FLJ41993 IL-17 receptor E-like|IL-17RE-like|OTTHUMP00000196724|putative interleukin-17 receptor E-like protein-coding 730894 IL18 interleukin 18 (interferon-gamma-inducing factor) The protein encoded by this gene is a proinflammatory cytokine. This cytokine can induce the IFN-gamma production of T cells. The combination of this cytokine and IL12 has been shown to inhibit IL4 dependent IgE and IgG1 production, and enhance IgG2a production of B cells. IL-18 binding protein (IL18BP) can specifically interact with this cytokine, and thus negatively regulate its biological activity. [provided by RefSeq] 2315917,1580863,4889913,4889836,4889841,4889862,4889863,4889585,4889590,4889903,4889964,4889917,4889927,4889475,4889574,4889856,4889900,4889908,4889924,4889415,4889548,4889401,4889404,4889454,4889575,4889823,4889417,4889491,4889510,4889526,4889542,4889550,4889581,4889883,4889916,4889923,4889960,2315887,4889416,2317284,4889543,4889546,4889547,4889910,4889159,4889402,4889898,4889400,729222,4889473,2311084,4889556,4889578,4889403,4889158,4889576,4891154,4889500,4889815,4889551,4889584,729357,4889555,4889865,2315889,4889503,4889825,4889844 18286551,18279187,18250135,18237555,18235016,18225563,18225542,18200581,18178861,18165223,18163476,18160936,18160214,18093181,18092318,18064631,18050226,18050195,18043444,18024284,17988833,17984243,17981284,17965486,17964972,17962365,17959666,17951325,17948066,17922692,17919265,17907957,15471361,15463896,15371332,15358638,15327523,15326478,15308504,15302292,15277983,15230817,15225625,15212675,15140035,15104599,15005726,14998974,14991611,14960579,14764217,14738910,14734463,14725568,14718574,14709415,14697936,14679107,14662834,14660053,14640907,14630085,14617033,14605444,14584052,14581397,14561165,14556808,14504095,12947340,12941729,12938205,12911784,12874316,12858406,12857602,12847274,12819633,12796418,12794718,12788305,12759422,12748489,12738632,12679613,12654091,12616343,12594843,12572878,12571842,12527894,12517977,12482935,12477932,12472673,12472176,12456593,12438388,12424620,12401730,12390326,12387830,12381835,12377944,12366781,12207348,12172382,12149432,12105209,11960649,11958300,11936774,11920321,11907126,11895335,11894141,17893261,17854431,17851835,17851127,17845300,17767553,17765248,17708609,17703412,17691022,17688413,17687255,17683383,17674327,17671745,17658666,17626902,17625598,17611971,17611643,17611614,17610422,17597823,17597334,17586702,17530707,17517876,17517100,17487222,17461482,17445542,17399992,17396252,17373930,17364073,17361200,17355643,17343316,17336309,17301041,17299019,17262717,17252172,17237446,17235324,17225924,17225121,17222831,17192354,17142727,17117487,17077020,17075246,17072982,17055358,17027359,17016692,17001321,16979683,16971411,16948912,16943580,16909454,16903774,16883062,16842597,16839849,16827865,16820919,16806233,16772281,16767839,16759385,16738942,16671950,16650813,16635219,16621994,16584830,16571086,16563174,16556702,16516851,16514436,16493047,16492204,16443795,16433859,16433722,16428475,16424284,16420594,16406656,16406079,16405895,16373926,16358956,16339124,16325763,16316892,16315783,16306765,16306764,16306550,16273766,16266857,16260350,16243298,16215941,16186395,16084898,16078996,16061751,16059673,16053025,16052331,16051062,16049975,16043644,16024007,15963597,15955098,15932380,15927856,15896202,15894108,15863395,15860756,15860738,15842270,15826815,15816833,15806006,15802534,15789055,15786533,15760905,15753257,15731584,15728489,15710458,15674367,15663745,15646011,15645140,15644127,15643599,15585330,15581980,15555533,15489334,11805151,11798931,11790772,11781190,11770036,11714826,11714750,10681439,10639148,10460493,9693051,9334240,9325300,9108085,8999548,8666798,7477296,12096920,20233133,20617584,20140262,20558561,20568250,20885390,20960175,20964873,20971720,21061265,20414054,20374388,20412718,19208460,20627039,20482998,21035858,11598150,8999896,8766574,11905033,11466388,9792649,10653850,10227975,10000000,11477102,11506998,19638090,19633236,19622039,19584085,19573080,19527514,19508433,19473509,19470251,19453784,19443970,19420105,19390575,19387647,19347053,19342689,19339355,19309308,19288449,19265133,19263242,19258923,19247692,19230467,19229765,19178691,19176284,19152241,19138654,19126646,19110334,19102398,19097518,19092166,19091595,19077897,19074885,19074166,19073159,19064572,19036565,19031096,19019335,19016763,18983635,18949051,18940019,18930181,18922682,18853133,18835036,18821674,18819819,18818761,18818748,18803662,18781864,18780764,18777510,18773860,18706445,18685607,18684981,18683145,18662786,18632660,18628791,18599493,18594952,18566306,18562922,18555694,18523012,18520705,18514661,18514203,18504197,18484687,18464913,18442334,18433937,18399311,18391570,18386818,18359638,18336908,18307517,18297714,18295340,18295214,18287807,11888846,11855785,19913121,20485444,20530519,20538124,20628086,20673868,20735470,20797704,20818961,16780720,20140691,20689079,20586818,20565717,16482511,19088061,16647017,17605864,17666338,18538088,18678419,18937548,19131059,19200605,19265174,19285156,19394601,19403407,19455410,19466545,19469892,19509137,19538326,19550095,19553661,19581111,19593889,19605669,19637196,19638429,19639049,19642044,19657406,19669125,19669363,19684151,19687159,19692203,19699611,19712260,19740312,19745201,19757044,19758166,19773279,19789190,19796548,19811440,19816189,19817957,19865096,19879772,19900154,19907017,19961286,19961892,20003764,20017708,20056178,20060272,20061784,20083555,20096599,20097272,20137369,20150558,20169140,20216908,20227257,20227263,20237496,20304021,20306652,20306665,20331838,20331879,20339966,20350254,20399512,20416077,20418295,20424918,20441695,20452482,20478055,20490717,20490891,20522205,20525402,20545903,20349123 2315917,4889913,4889836,4889841,4889862,4889863,4889585,4889590,4889903,4889964,4889917,4889927,4889475,4889574,4889856,4889900,4889908,4889924,4889415,4889548,4889401,4889404,4889454,4889575,4889823,4889417,4889491,4889510,4889526,4889542,4889550,4889581,4889883,4889916,4889923,4889960,2315887,4889416,2317284,4889543,4889546,4889547,4889910,4889159,4889402,4889898,4889400,729222,2311084,4889556,4889578,4889403,4889158,4889576,4891154,4889500,4889815,4889551,4889584,729357,4889555,4889865,2315889,4889503,4889825,4889844 3606 NM_001562,AB015961,AJ295724,AP002007,AP002884,CH471065,AF077611,AF380360,AK311301,AY044641,AY266351,BC007007,BC007461,BC015863,CR541973,CR542001,D49950,U90434 NP_001553,CAC01436,EAW67184,EAW67185,AAC27787,AAK57024,AAK95950,AAP92112,AAH07007,AAH07461,CAG46771,CAG46798,BAA08706,AAB50010,Q14116,Q6WWJ7,Q96KJ8,Q9NQ49 Hs.83077 IGIF|IL-18|IL-1g|IL1F4|MGC12320 IFN-gamma-inducing factor|IL-1 gamma|iboctadekin|interferon gamma-inducing factor|interleukin-1 gamma|interleukin-18 protein-coding 1348622 IL18BP interleukin 18 binding protein The protein encoded by this gene is an inhibitor of the proinflammatory cytokine IL18. This protein binds to IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production. This protein is constitutively expressed and secreted in mononuclear cells. The expression of this protein can be enhanced by IFN-gamma. An elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,4889578,4889551,4889400 10023777,11890646,18594952,18092318,17951325,16341674,16043644,15489334,15340161,15188356,14702039,12960225,12874202,12482935,12477932,12381835,11907126,11739524,10737800,10655506,10329540,10094485,21078084,16712791,19046253,20140691,19394601,19699611,19961286,20072626,20331378,20452482,20673868,17207965 4889578,4889551,4889400 10068 AB019504,AF086560,AF110799,AF110800,AF110801,AF122906,AF215907,AK098255,AW295729,BC044215,BF934342,BM819966,BX357194,CB154498,CR605363,CR606710,NM_001039659,NM_001039660,NM_173042,NM_001145057,NM_001145055,AF110798,AF122908,AP002490,CH471076 EAW74820,BAA76374,AAD17190,AAD17191,AAD17192,AAD41051,AAF31697,BAG53602,AAH44215,O95998,Q9UNH2,NP_001034748,NP_001034749,NP_766630,NP_001138529,NP_001138527,AAD17187,AAD17188,AAD17189,AAD41053,EAW74812,EAW74813,EAW74814,EAW74815,EAW74816,EAW74817,EAW74818,EAW74819,ADQ33099 Hs.591967 IL18BPa IL-18BP|MC51L-53L-54L homolog gene product|OTTHUMP00000179143|OTTHUMP00000196341|interleukin-18-binding protein|tadekinig-alfa protein-coding 1318449 IL18R1 interleukin 18 receptor 1 The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. [provided by RefSeq] 1580863 9325300,19473509,20627039,20833839,19258923,19249008,19180518,18774397,18715339,18382474,18311140,17703412,17403771,16979683,16971411,16467876,16236915,16043644,15860756,15815621,15760905,15489334,15323361,15202785,15063762,15044087,15009178,14734551,14662859,14662834,12477932,12096920,10925275,10227969,10191101,8898719,8626725,20860503,21102463,20816195,19394601,19592492,19817957,19879772,19910030,20190752,20237496,20353565,20354066,20379614,20424473,20503287 8809 NM_003855,AC007248,CH471127,AK313967,AY192162,BC069575,BC093975,BC093977,BC143403,BC143405,U43672 NP_003846,AAY15048,EAX01792,EAX01793,EAX01794,BAG36682,AAO41718,AAH69575,AAH93975,AAH93977,AAI43404,AAC50390,Q13478,Q86YL8 Hs.469521 CD218a|CDw218a|IL-1Rrp|IL18RA|IL1RRP CD218 antigen-like family member A|IL-18R-1|IL-18R1|IL1 receptor-related protein|IL1R-rp|OTTHUMP00000161340|OTTHUMP00000203113|cytokine receptor|interleukin-18 receptor 1 protein-coding 1315691 IL18RAP interleukin 18 receptor accessory protein The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for IL18. This protein enhances the IL18 binding activity of IL18R1 (IL1RRP), a ligand binding subunit of IL18 receptor. The coexpression of IL18R1 and this protein is required for the activation of NF-kappaB and MAPK8 (JNK) in response to IL18. [provided by RefSeq] 1580863 9792649,19473509,19336475,19180518,19103669,19073967,18805825,18774397,18439550,18311140,18092318,17897836,16043644,15815621,15760905,15489334,12477932,11788557,11046021,10951141,10925275,19542083,19693089,19714583,20176734,20190752,20237496,20353565,19760754,21072187,21102463,20647273 8807 NM_003853,NG_011481,AC007248,AC007278,CH471127,AF077346,AK300026,BC069630,BC106764,BC106765,BC137474,BC137475,DQ116957 NP_003844,AAY15049,AAY15080,EAX01791,AAC72196,BAG61837,AAH69630,AAI06765,AAI06766,AAI37475,AAI37476,AAZ52551,O95256,Q2QDE5,Q3KPE8 Hs.158315 ACPL|CD218b|CDw218b|IL18RB|MGC120589|MGC120590 CD218 antigen-like family member B|IL-18 receptor accessory protein|IL-18 receptor beta|IL-18R-beta|IL-18RAcP|IL-18Rbeta|IL-1R accessory protein-like|IL-1R-7|IL-1R7|IL-1RAcPL|OTTHUMP00000203106|accessory protein-like|interleukin-1 receptor 7|interleukin-18 receptor accessory protein|interleukin-18 receptor accessory protein-like|interleukin-18 receptor beta protein-coding 1315107 IL19 interleukin 19 The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq] 1580863 11196675,19087313,18809337,18669613,18479293,18246602,18006695,17522354,17465720,17449492,17263806,17083366,16778150,16710414,16631120,15827959,15815689,15557163,15340161,15120647,14675174,14580208,12486876,12477932,12403790,12370360,12351624,12023331,11929132,11564763,11163236,15857508,20966397,17703412,19258923,19430480,19573080,19773279,19786281,20237496,20379614,20503287,20228799,21102463,20603037,20806065,20568250,20800603,20976276 29949 NM_153758,NM_013371,AF276915,AF390905,AL049615,AL513315,CH471100,AF192498,AF453946,AY040367,CA306526 NP_715639,NP_037503,AAG16755,AAK64498,CAB72342,CAH71814,EAW93522,EAW93523,AAF06663,AAN40906,AAK91776,Q5VUT3,Q9UHD0,AAI48535,AAI53128,AAI72584 Hs.661017 IL-10C|MDA1|NG.1|ZMDA1 interleukin-19|melanoma differentiation associated protein-like protein|melanoma differentiation-associated protein-like protein protein-coding 735707 IL1A interleukin 1, alpha The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq] 2311062,2311084,2311094,2311069,2311083,2311098,2311065,2311066,2311100,2311064,2311067,2311075,2311076,2311092,2311088,2307061,2311080,1300048,1358667,1580863,2317657,4142849,4143183,4142860,2314952,4142804,4142835,4142838,4891398,4142803,4142790,4142788,4142792,4142832,4142854,4142859,4142809,4142818,4142806,4143222,4142855,4142811,4142802,4142805,4142793 20565898,10861041,18329368,10748004,1924307,2989698,6209582,3493774,1739124,19594368,19573080,19563289,19559392,19546559,19527514,19505916,19497711,19479237,19470040,19453261,19435817,19431193,19408823,18587204,18576312,18510611,18498295,18496214,18484691,18484169,18469698,18441098,18416756,18416755,18395750,18393655,18361934,18322311,18321309,18315433,18306451,18292602,18288454,18284424,18278133,18271063,18211631,18199150,18166103,18158110,18157711,18086816,18085494,18063673,18052703,18038187,18024394,17997719,17986158,17978470,17964974,17960403,17954336,17949817,17948066,17941080,17932347,17926179,17919610,17907045,17889143,17823082,12746488,12746420,12742380,12737276,12730545,12729191,12714264,12710950,12702109,12673844,12667716,12651617,12641660,12631337,12626603,12622850,12613995,12598547,12562360,12558933,12558814,12530978,12528119,12528118,12519748,12477932,12453471,12445604,12445219,12425801,12404162,12390476,12370389,12362317,12242547,12220547,12218254,12212456,12210881,12209090,12195069,12164325,12161036,12149413,12140751,12115182,12115161,12102486,12101079,12100571,12082592,12070246,12052541,12052540,12051868,12047332,12037600,12034804,12028539,11991722,11991668,11956022,11940570,11930657,11921766,11911995,11895546,11895290,11858158,11840488,11790645,11784248,11777547,11774564,11774556,11737511,11703512,11669478,11640949,11574262,11554782,11466363,11453239,11448121,11436125,11427627,11423389,11350506,11350500,11278614,11241561,11233912,11145836,11145356,11138328,11093146,11079552,11065142,10998424,10953177,10860666,10744718,10625660,10512743,10441334,9820540,9169134,8621446,8436814,8370968,8346241,8188271,7878046,7857652,7818827,7695626,7566121,7526541,7499244,7494249,3486405,3485152,3281727,2994016,2783369,2635664,2346741,1675504,1584804,8938574,8892361,7706435,1993354,16160188,15481145,12089333,9658081,9225992,9108403,8764000,7815507,7511078,7561697,1905933,1548758,8458986,16934308,9185130,2536171,16792821,16375755,16410064,16403098,16389181,16384981,16378839,16369899,16361815,16318580,16317381,16304445,16291395,16268484,16246569,16230423,16226351,16206345,16159520,16155691,16115908,16106254,16101131,16100774,16078996,16046471,16030091,16021081,15986200,15974847,15954918,15951664,15931231,15854776,15836820,15830637,15797878,15777329,15745939,15737206,15733644,15732864,15727567,15726267,15723707,15694997,15679582,15679580,15638425,15633328,15592292,15587751,15581980,15566952,15563458,15562910,15562658,15561982,15551344,15514971,15489334,15489227,15476179,15468358,15465625,15381245,15377701,15361128,15351436,15341923,15338333,15308963,15270852,15248873,15238767,15220553,15219382,15201366,15190266,15170937,15130917,15117956,15082121,15068111,15050696,15039285,15036245,15009111,15007345,14997019,14986816,14984963,14983027,14974822,14735144,14705223,14693849,14688369,14674121,14673470,14672899,14664464,14656692,14644395,14639688,14634838,14633625,14612453,14584862,14566095,14533660,14514232,13679381,12974682,12947160,12946945,12931024,12930389,12930304,12928381,12928052,12913118,12901853,12899665,12890860,12874528,12869004,12824054,12801479,12794386,12782964,12759172,12752325,12752101,12749050,16410066,16945028,16938461,16931944,16930778,16918024,16911569,16907768,16905534,16900886,16888077,16885196,16879223,16856121,16842617,16814297,16788102,16733901,16720107,16719905,16708852,16702372,16684536,16636934,16619041,16573560,16567828,16564703,16564702,16546408,16517748,16510430,16508980,16504015,16478776,16464738,16433908,16428739,16411061,11264025,20140262,20568250,20800603,20811626,20844546,20848459,20934174,20940514,20942594,20959405,20961668,21035110,21037510,21048327,21054222,21070631,21086908,20182449,19348329,17717316,16961803,19336475,19336370,19332120,19307598,19294239,19290009,19280228,19279357,19267917,19263529,19258923,19247983,19247692,19240061,19225544,19204921,19194673,19191034,19188531,19184295,19180798,19180518,19158434,19155622,19141860,19141488,19131662,19117745,19110536,19099590,19088500,19086955,19076825,19074885,19066720,19053923,19046297,19042953,19035492,19028820,19026558,19019335,19013788,19012493,18974842,18974840,18971305,18952231,18941541,18838388,18834321,18832862,18821666,18818748,18815552,18787502,18773331,18763028,18760325,18723088,18717723,18716798,18714935,18709454,18702109,18676870,18676680,18676404,18673406,18666137,18633131,18632425,18631256,18628526,18628242,18624935,18615110,18607773,17703412,17638785,17627763,17622713,17621543,17610660,17596594,17584583,17575917,17573384,17549071,17541168,17532232,17507369,17500214,17492470,17477815,17473736,17471097,17460270,17458495,17449468,17448042,17444864,17444587,17440718,17436000,17391495,17388919,17378887,17371964,17369174,17360358,17355643,17353161,17348886,17335373,17335371,17335370,17331078,17309781,17293495,17290104,17257312,17244613,17214636,17205326,17716546,17711477,17197697,17179726,17149369,17141301,17140155,17138334,17083033,17034724,17012236,17002905,16978691,16971486,16965825,16965524,18336824,18583979,18615092,18708672,19170196,19625176,19648252,19658300,19661089,19671938,19680808,19683555,19684156,19692168,19701653,19702713,19708438,19729601,19733643,19738620,19742166,19764937,19773279,19773451,19775068,19786079,19789190,19792847,19805069,19811432,19820020,19844779,19860911,19889475,19892918,19917630,19926874,19934104,19948975,20005085,20011938,20027454,20056178,20059417,20059631,20065999,20070880,20080142,20113359,20113413,20116409,20127018,20131253,20141484,20157068,20169140,20173430,20178882,20192980,20196868,20200332,20207250,20213229,20217044,20220089,20227257,20237496,20335539,20347268,20353565,20371868,20400062,20413850,20418110,20427258,20452482,20453000,20459687,20472930,20490891,20495422,20503287,20536609,2946959,10854325,20490394,20889944,21107309,19913121,20299682,20445556,20534741,20536507,20551628,20561568,20574532,20594066,20595916,20602615,20603037,20603050,20628086,20630038,20673868,20677014,20725607 2311062,2311084,2311094,2311069,2311083,2311098,2311065,2311066,2311100,2311064,2311067,2311075,2311076,2311092,2311088,2307061,2311080,1358667,2317657,4142849,4143183,4142860,2314952,4142804,4142835,4142838,4891398,4142803,4142790,4142788,4142792,4142832,4142854,4142859,4142809,4142818,4142806,4143222,4142855,4142811,4142802,4142805,4142793 3552 NM_000575,NG_008850,AC079753,AC112235,AF536338,BN000002,CH471217,X03833,AK314850,BC013142,BC035169,BT007014,CA307202,CR457414,M15329,X02531,X02851,X56086 NP_000566,AAX93054,AAM96189,CAD29871,EAW73604,CAA27448,BAG37367,AAH13142,AAP35660,CAG33695,AAA59133,CAA26371,CAA26604,CAA39566,P01583,Q53QF9,ABM81601,ABM84782 Hs.1722 IL-1A|IL1|IL1-ALPHA|IL1F1 IL-1 alpha|OTTHUMP00000203692|hematopoietin-1|interleukin 1 alpha|interleukin-1 alpha|preinterleukin 1 alpha|pro-interleukin-1-alpha protein-coding 730981 IL1B interleukin 1, beta The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq] 1626623,1626631,1626681,1626624,1626635,1626644,1626620,1625405,1626629,1626652,1626658,1626673,1626633,1626634,1626671,1626679,1626655,1626672,1626676,1626677,1626632,1626645,1626627,1626628,1626637,1626641,1626680,1626682,1626636,1626638,1626661,1626625,1626657,2311092,2311094,2311069,2315919,2311103,2311084,2311098,2311100,2307061,1358741,1358742,1580863,2317215,2317216,4143189,4143180,4142534,4142822,4143167,4142537,4142869,4142807,4142850,4142814,4142837,4142820,4142826,4142842,4142870,4143184,4143190,4143192,4142812,4143211,4143217,4143226,4143227,4142530,4143181,4143193,4142817,4142825,4143179,4142815,4142828,4142844,4142821,4142829,4142831,4143222,4142819,4142866,4142868,4142808,4142813,4142827,4142830,4142845,4143169,4142536,4143172,4142535,4142836,4142531,4142810,4142873,4142529,4142864,4142872,4143205,4143214 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1626623,1626631,1626681,1626624,1626635,1626644,1626620,1625405,1626629,1626652,1626658,1626673,1626633,1626634,1626679,1626655,1626672,1626676,1626677,1626632,1626645,1626627,1626628,1626637,1626641,1626680,1626682,1626636,1626638,1626661,1626625,1626657,2311092,2311094,2311069,2315919,2311103,2311084,2311098,2311100,2307061,1358741,1358742,2317215,2317216,4143189,4143180,4142534,4142822,4143167,4142537,4142869,4142807,4142850,4142814,4142837,4142820,4142826,4142842,4142870,4143184,4143190,4143192,4142812,4143211,4143217,4143226,4143227,4142530,4143181,4143193,4142817,4142825,4143179,4142815,4142828,4142844,4142821,4142829,4142831,4143222,4142819,4142866,4142868,4142808,4142813,4142827,4142830,4142845,4143169,4142536,4143172,4142535,4142836,4142531,4142810,4142873,4142529,4142864,4142872,4143205,4143214 3553 NM_000576,NG_008851,AC079753,AY137079,BN000002,CH471217,M15840,X04500,X52430,X52431,AB451494,AF043335,AK313983,BC008678,BT007213,CR407679,K02770,M15330,M54933,X02532,X56087 NP_000567,AAX88888,AAM88883,CAD29872,EAW73605,EAW73606,EAW73607,AAA74137,CAA28185,BAG70308,AAC03536,AAH08678,AAP35877,CAG28607,AAA36106,AAA59135,AAA59136,CAA26372,CAA39567,O43645,P01584,ABM81599,ABM84780 Hs.126256 IL-1|IL1-BETA|IL1F2 IL-1 beta|OTTHUMP00000203693|OTTHUMP00000203694|OTTHUMP00000203695|catabolin|interleukin-1 beta|preinterleukin 1 beta|pro-interleukin-1-beta protein-coding 1313781 IL1F10 interleukin 1 family, member 10 (theta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 1580863 12477932,11991723,11991722,11747621,11574262,11466363,11278614,11145836,11093146,10860666,10744718,10625660,10512743,9169134,8188271,18484691,18361937,18063673,17975119,16361275,15815621,15489334,12975309,20800603,20975573,18464913,19023099,20141484,20237496,19913121,20628086 84639 NM_173161,NM_032556,AC016724,AY972854,BN000002,CH471217,AF334755,AY026753,AY029413,AY358846,BC103966,BC103967,BC103968,AF334756 NP_775184,NP_115945,AAY14991,AAK68049,AAX59032,CAD29878,EAW73619,EAW73620,AAK68048,AAK01948,AAK33010,AAQ89205,AAI03967,AAI03968,AAI03969,Q8WWZ1 Hs.306974 FIL1-theta|FKSG75|IL-1HY2|IL1-theta|MGC119831|MGC119832|MGC119833 FIL1 theta|IL-1 theta|IL-1F10 (canonical form IL-1F10a)|interleukin-1 HY2|interleukin-1 family member 10|interleukin-1 receptor antagonist FKSG75|interleukin-1 receptor antagonist-like FIL1 theta|interleukin-1 theta protein-coding 1322552 IL1F5 interleukin 1 family, member 5 (delta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 1580863 10512743,18484691,17975119,16978071,16918024,16211343,16189514,15815621,15489334,15231748,14702039,14644395,12975309,12477932,11991722,11841485,11574262,11466363,11278614,11145836,11093146,10866108,10860666,10744718,10625660,9169134,8188271,19913121,20628086,19023099,20141484,20237496,20379614 26525 BC000945,BC024747,CR613851,NM_012275,NM_173170,AC016724,AF216693,AJ271338,AY972853,BN000002,CH471217,AF186094,AF201830,AF230377,AJ242737,AJ242738,AK002125,AK290249,AY359117 AAQ89475,AAH24747,Q9UBH0,ABM81628,ABM84812,NP_775262,NP_036407,AAY14990,AAF76981,CAB67704,AAX59031,CAD29877,EAW73617,EAW73618,AAF02757,AAF25210,AAF91274,CAB59822,CAB59823,BAF82938 Hs.516301 FIL1|FIL1(DELTA)|FIL1D|IL1HY1|IL1L1|IL1RP3|MGC29840 FIL1 delta|IL-1 delta|IL-1 related protein 3|IL-1-related protein 3|IL-1F5 (IL-1HY1, FIL1-delta, IL-1RP3, IL-1L1, IL-1-delta)|IL-1HY1|IL-1L1|IL-1ra homolog 1|IL1F5 (Canonical product IL-1F5a)|OTTHUMP00000203698|family of interleukin 1-delta|interleukin 1, delta|interleukin-1 HY1|interleukin-1 delta|interleukin-1 family member 5|interleukin-1 receptor antagonist homolog 1|interleukin-1-like protein 1 protein-coding 1315732 IL1F6 interleukin 1 family, member 6 (epsilon) 1580863 10625660,18484691,17908936,16777052,15815621,15489334,14734551,12477932,12110411,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10744718,10512743,9169134,8188271,19913121,20628086,20141484,20237496 27179 NM_014440,AC016724,AY944686,BN000002,CH471217,AF201831,AK314149,BC107042,BC107043 NP_055255,AAY14988,AAX20113,CAD29875,EAW73614,AAF25211,BAG36836,AAI07043,AAI07044,Q9UHA7 Hs.278910 FIL1|FIL1(EPSILON)|FIL1E|IL-1F6|IL1(EPSILON)|MGC129552|MGC129553 FIL1 epsilon|IL-1 epsilon|IL-1F6 (FIL-1-epsilon)|interleukin 1, epsilon|interleukin-1 epsilon|interleukin-1 family member 6 protein-coding 1346334 IL1F7 interleukin 1 family, member 7 (zeta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 21072596,10625660,10744718,18484691,18390730,15815621,15527767,15489334,12496389,12477932,12381835,12096920,11991723,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10512743,9169134,8188271,19874811,20141484,20237496,17207965,20935647 27178 NM_014439,NM_173204,NM_173202,NM_173203,NM_173205,AC079753,AY973625,BN000002,CH471217,AB451333,AB451478,AF167368,AF200496,AF201832,AF251118,AF251119,AF251120,AY071840,AY071841,BC020637 NP_055254,NP_775296,NP_775294,NP_775295,NP_775297,AAX88889,AAX59036,CAD29873,EAW73608,EAW73609,EAW73610,EAW73611,EAW73612,BAG70147,BAG70292,AAG29344,AAF69252,AAF25212,AAG14420,AAG14421,AAG14422,AAL67151,AAL67154,AAH20637,Q7RU00,Q9NZH6,ABM82314,ADQ32131 Hs.166371 FIL1|FIL1(ZETA)|FIL1Z|IL-1F7|IL-1H4|IL-1RP1|IL1H4|IL1RP1 FIL1 zeta|IL-1 zeta|IL-1F7b (IL-1H4, IL-1H, IL-1RP1)|IL-1X protein|IL1F7 (canonical product IL-1F7b)|interleukin 1 family member 7|interleukin 1, zeta|interleukin-1 family member 7|interleukin-1 homolog 4|interleukin-1 superfamily z|interleukin-1 zeta|interleukin-1-related protein protein-coding 1317278 IL1F8 interleukin 1 family, member 8 (eta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 10744718,18484691,16646978,15815621,14734551,12477932,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10625660,10512743,9169134,8188271,20141484,20237496 27177 NM_014438,NM_173178,AC016724,BN000002,CH471217,DQ224343,AF200494,AF201833,BC101831,BC101833,CA441070 NP_055253,NP_775270,AAY14989,CAD29876,EAW73615,EAW73616,ABA60896,AAF69250,AAF25213,AAI01832,AAI01834,Q9NZH7 Hs.278909 FIL1|FIL1-(ETA)|FIL1H|IL-1F8|IL-1H2|IL1-ETA|IL1H2|MGC126880|MGC126882 FIL1 eta|IL-1 eta|IL-1F8 (FIL1-eta)|IL1F8 (Canonical product IL-1F8a)|Interleukin-1 Superfamily e|family of interleukin 1-eta|interleukin 1, eta|interleukin-1 eta|interleukin-1 family member 8|interleukin-1 homolog 2 protein-coding 1351778 IL1F9 interleukin 1 family, member 9 The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq] 1580863 10744718,18484691,15815621,15701729,15489334,15331687,14734551,12975309,12477932,11991723,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10625660,10512743,9169134,8188271,20141484,20237496 56300 NM_019618,AC016724,AY968311,BN000002,CH471217,AF200492,AF206696,AY359111,BC096721,BC098130,BC098155,BC098337 NP_062564,AAY14987,AAX59035,CAD29874,EAW73613,AAF69248,AAG35670,AAQ89469,AAH96721,AAH98130,AAH98155,AAH98337,Q9NZH8 Hs.211238 IL-1F9|IL-1H1|IL-1RP2|IL1E|IL1H1|IL1RP2 IL-1 epsilon|IL-1 related protein 2|IL-1(EPSILON)|IL-1-epsilon|IL-1-related protein 2|interleukin 1-related protein 2|interleukin-1 epsilon|interleukin-1 family member 9|interleukin-1 homolog 1 protein-coding 735430 IL1R1 interleukin 1 receptor, type I The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein is a receptor for interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA). It is an important mediator involved in many cytokine induced immune and inflammatory responses. This gene along with interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 2 (IL1RL2), and interleukin 1 receptor-like 1 (IL1RL1) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq] 2311107,2311068,1598407,2311106,1580863 9120302,16477012,9062193,9062194,12721283,16286467,2530587,11508575,11506478,11427627,11390630,11380940,11380474,11278614,11233912,11220627,11197691,11127457,11083263,11040178,10903327,10854325,10373529,10191101,9374458,9371760,9360994,7818827,2946959,2532321,2521881,1672292,7878046,20140262,20568250,20800603,20811626,20819778,20956022,20959405,21086908,20523065,18576303,18484169,18322311,18321953,18052726,17889143,17703412,17688691,17627763,17622942,17607501,17584583,17517439,17480058,17477815,17413037,17324958,17257312,17083033,16938461,16937503,16911713,16573560,16564702,16354686,16323614,16305343,16301860,16258158,16100774,15919456,15866876,15797878,15789892,15723707,15653174,15489334,15481335,15472211,15388348,15375600,15361128,15300624,15190266,15188516,15170937,14872281,14758530,14735144,14734209,14680589,14644395,14563376,14557872,12925853,12890860,12804791,12752101,12729621,12659850,12595908,12558814,12477932,12477576,12472674,12425801,12424621,12412204,12363051,12240899,12212456,12164325,12145738,12138282,12136897,12133437,12095061,12082592,12077269,12038885,12028539,11956022,11851889,11849463,11846196,11838837,11820460,11790645,11762793,11752505,11742191,11665666,1833184,10383454,19431193,19408823,19339270,19332120,19290009,19258923,19232518,19211154,19180518,19142372,19141860,19117745,19076825,19064572,19019335,18996842,18818748,18810365,18773331,18763028,18632425,18624935,11641511,11578018,11527622,17113392,19428986,19453261,19470040,19488045,19527514,19573080,19594368,19683555,19684156,19702713,19716405,19729601,19738620,19773279,19773451,19801678,19819943,19822442,19844779,19860911,19940113,19948975,19950169,19965648,20066156,20120526,20213229,20237496,20349753,20353565,20400062,20452482,20503287,19913121,20602615,20603050,20628086,20628624,20673868,20709104,20799037,20806065,20816195,20818961,8327496 2311107,2311068,2311106 3554 NM_000877,AC007271,AF531102,CH471127,AK026803,AK314433,BC067506,BC067507,BC067508,BC075062,BC075063,CR595183,CR621155,M27492,X16896 NP_000868,AAX81988,AAM88423,EAX01799,AAH67506,AAH67507,AAH67508,AAH75062,AAH75063,AAA59137,CAA34773,P14778,Q6NWP5,Q6NWP6 Hs.701982 CD121A|D2S1473|IL-1R-alpha|IL1R|IL1RA|P80 CD121 antigen-like family member A|IL-1R-1|IL-1RT-1|IL-1RT1|OTTHUMP00000161344|OTTHUMP00000203887|OTTHUMP00000203888|OTTHUMP00000203889|OTTHUMP00000203891|OTTHUMP00000207977|antigen CD121a|interleukin 1 receptor alpha, type I|interleukin receptor 1|interleukin-1 receptor alpha|interleukin-1 receptor type 1|interleukin-1 receptor type I protein-coding 1352690 IL1R2 interleukin 1 receptor, type II The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 1580863 8898719,19527514,19453261,19401759,19336370,19258923,19180518,19026558,19019335,18818748,18315432,18096476,17919610,17703412,17702847,17517439,17482186,17413037,17324958,17307738,16971486,16596202,15815621,15705625,15653174,15489334,14674121,12794127,12530978,12477932,12377932,12372465,12363051,12356774,11846196,11804955,11520075,11023264,10210771,10191101,9862719,9168406,9166705,9159157,8985204,8894439,8786316,8702856,8698397,8634411,8332913,8294881,7989776,7963543,7878046,7564267,1834697,1834644,1833184,9417814,17207965,20140262,20568250,21041274,19913121,20628086,20652271,20654748,20673868,19489917,19573080,19773279,19948975,20062062,20237496,20353565,20452482,20503287 7850 NM_004633,NM_173343,AC005035,AC007165,AY124010,CH471127,CS068590,AK130412,AK309161,BC012346,BC027733,BC039031,CR616861,U64094,U74649,X59770,CS435061,HI582479 NP_004624,NP_775465,AAK52072,AAM64221,EAX01800,EAX01801,EAX01802,EAX01803,CAI84626,AAH27733,AAH39031,AAB05878,AAD00242,CAA42441,P27930,Q6LCE6,Q6PIW7,ADQ33008,CAL63915,CBX46851 Hs.25333 CD121b|IL1RB|MGC47725 CD121 antigen-like family member B|CDw121b|IL-1R-2|IL-1R-beta|IL-1RT-2|IL-1RT2|OTTHUMP00000207969|antigen CDw121b|interleukin-1 receptor beta|interleukin-1 receptor type 2|interleukin-1 receptor type II|type II interleukin-1 receptor, beta protein-coding 732294 IL1RAP interleukin 1 receptor accessory protein Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes an interleukin 1 receptor accessory protein. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. [provided by RefSeq] 1580863 17207965,20140262,12721283,9065432,7775431,19527514,19481478,19240061,19019335,18818748,18385676,18299313,18156980,17949817,17889143,17507369,16519819,15849357,15528363,15489334,15231748,14734551,14702039,12781872,12659850,12530978,12483539,12477932,12393699,11880380,11416133,11279295,10854325,10799889,10373529,9923604,9862719,9820540,9479509,9371760,11544529,8626725,16341674,16344560,20237496,20379614,8889548,20966902,20805474,8837778,19913121,20628086,20730440 3556 NM_134470,AC008249,AC108747,AF016261,AF167340,AF167342,CH471052,AB006537,AF029213,NM_002182,AF167343,AF487335,AF538730,AF538731,AF538732,AF538733,AF538734,AK095107,AK291669,BC016141,BC053621,CR591396,EF591790,FJ998418,BG032519,BM194193,BM760155,BM973472,DA024801,DN990628,NM_001167928,NM_001167929,NM_001167930,NM_001167931 NP_002173,NP_608273,AAC39609,AAF71688,AAF71689,EAW78100,EAW78101,EAW78102,EAW78103,BAA25421,AAB84059,AAF71687,AAO49451,AAQ01755,AAQ01756,AAQ01757,AAQ01758,AAQ01759,ADQ32601,BAC04487,BAF84358,AAH53621,ABU90811,ACR82488,Q8N9C1,Q9NPH3,NP_001161400,NP_001161401,NP_001161402,NP_001161403 Hs.478673 C3orf13|FLJ37788|IL-1RAcP|IL1R3 IL-1 receptor accessory protein|IL-1R-3|IL-1R3|OTTHUMP00000209486|OTTHUMP00000209487|OTTHUMP00000209488|OTTHUMP00000209489|OTTHUMP00000209490|OTTHUMP00000209491|OTTHUMP00000209492|interleukin-1 receptor 3|interleukin-1 receptor accessory protein|interleukin-1 receptor accessory protein beta protein-coding 735979 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. [provided by RefSeq] 1302409,1601578,1580863 19913121,20628086,20673868,10471494,19012350,18801879,18467032,18253029,16470793,15300857,15123616,12783849,12777533,12477932,11076863,10882729,10757639,8964912,8826442,8230164,1605216,19736351,20452482,20479760,20838585 1302409,1601578 11141 NM_014271,NG_008292,AB101891,AB101892,AB101893,AB101894,AB101895,AB101896,AB101897,AB101898,AB101900,AB101901,AB101902,AB101903,AB101904,AB101905,AB101906,AB101907,AB101908,AB101909,AB101910,AC002367,AC003659,AC005748,AC112495,AC121343,AC121344,AC129851,AC129852,AC134149,AB101899,AL008710,AL031368,AL031466,AL031575,AL031803,AL049178,CH471074,AB102650,AF181284,AF284435,AJ243874,BC126345,BC126347,DN994486 BAC80457,NP_055086,BAC80450,BAC80451,BAC80452,BAC80453,BAC80454,BAC80455,BAC80456,BAC80458,BAC80459,BAC80460,BAC80461,BAC80462,BAC80463,BAC80464,BAC80465,BAC80466,BAC80467,BAC80468,BAC80469,EAW99046,BAC81119,AAF59411,AAG21369,CAB56046,AAI26346,AAI26348,Q7Z2H0,Q7Z2K4,Q9NZN1,AAI11919,ADR83342 Hs.658912 IL1R8|IL1RAPL|MRX10|MRX21|MRX34|OPHN4|TIGIRR-2 IL-1-RAPL-1|IL-1RAPL-1|IL1RAPL-1|OTTHUMP00000023097|X-linked interleukin-1 receptor accessory protein-like 1|interleukin 1 receptor-8|interleukin-1 receptor accessory protein-like 1|mental retardation, X-linked 10|oligophrenin-4|three immunoglobulin domain-containing IL-1 receptor-related 2 protein-coding 1349606 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. [provided by RefSeq] 1580863 10757639,17265504,16596202,12477932,11587848,11031108,10882729,7959766,20237496 26280 NM_017416,NG_012566,AL008642,AL021812,AL022168,AL050401,AL121866,AL133272,AL133276,AL133381,AL391070,AL391071,AL442225,AL512445,CH471120,Z68328,Z68330,Z68872,Z68908,Z69367,Z69721,Z69724,Z70040,Z70051,Z70225,Z70232,Z71182,Z73967,Z74477,Z74619,Z75745,Z75747,Z75957,Z80774,Z81144,Z95333,Z99706,AF181285,AF212016,AF284436,AJ272208,BC104786,AJ290436,AK290196,BC104784 NP_059112,CAI42894,EAX02752,CAI42001,CAI42006,CAI41987,CAI41981,CAI41995,CAI41989,CAI41969,AAF59412,AAF61307,AAG21370,CAB86868,AAI04787,Q9NP60,CAB89867,BAF82885,AAI04785 Hs.675519 IL-1R9|IL1R9|IL1RAPL-2|TIGIRR-1 IL-1 receptor accessory protein-like 2|IL-1-RAPL-2|IL-1R-9|IL-1RAPL-2|IL1RAPL-2-related protein|OTTHUMP00000023775|X-linked interleukin-1 receptor accessory protein-like 2|interleukin 1 receptor 9|interleukin-1 receptor 9|three immunoglobulin domain-containing IL-1 receptor-related 1 protein-coding 736158 IL1RL1 interleukin 1 receptor-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1580863 16286016,1482686,18029348,19493384,19254249,19247692,19198610,19180518,19169993,19074885,19017513,18802081,18794051,18774397,18375488,18311140,18226917,17623648,16426569,16381901,16118232,15815621,15489336,15489334,15481335,15340161,15063762,15004556,14991091,14759258,20363761,19520469,19671251,19852851,19860791,19898481,19910030,19927353,20190752,20237496,20331378,20353565,20435187,20503266,12578875,12492487,12477932,12368275,12355452,11531955,11478810,11359817,11076863,10936050,10527832,10491084,10191101,9811530,9794420,9618516,9207179,9058198,8621446,12665801,20800603,20860503,20625511,18827826,18941187,18995177,19756962,20385815,20816195,21102463 9173 NM_003856,AB022176,AC007248,CH471127,D12764,AB012701,AB029084,AK291578,AK303389,BC012580,BC030975,D12763,NM_016232 NP_057316,NP_003847,AAY15047,EAX01795,BAA20539,BAA82405,BAA85894,BAF84267,BAG64445,AAH30975,BAA02233,Q01638,CAL37814 Hs.66 DER4|FIT-1|IL33R|MGC32623|ST2|ST2L|ST2V|T1 OTTHUMP00000202992|growth stimulation-expressed|homolog of mouse growth stimulation-expressed|interleukin 1 receptor-related protein|interleukin-1 receptor-like 1 protein-coding 1353187 IL1RL2 interleukin 1 receptor-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq] 729063,1580863 8332913,1833184,19180518,19074885,16546408,12477932,11466363,10882729,10191101,9325300,8898719,19684156,19773279,20190752,20237496,20353565,20800603 729063 8808 AK315334,BC107064,U49065,AC007248,AC007271,CH471127,DQ131903,AF284434,NM_003854 BAG37734,AAI07065,AAB53237,Q9HB29,AAG21368,NP_003845,AAY15046,AAX81989,EAX01798,AAZ38712 Hs.659863 IL1R-rp2|IL1RRP2 IL-1Rrp2|interleukin-1 receptor-like 2|interleukin-1 receptor-related protein 2 protein-coding 1344540 IL1RN interleukin 1 receptor antagonist The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863,1626666,1626667,1626674,1626672,1626673,1626680,1626668,1626664,1626665,1626677,1626671,1626679,1358741,4142816,4143183,4143222,4142864,4143181,4143167,4143204,4142853,4143213,4143228,4143178,4142802,4143206,4143177,4143231,4143190,4143191,4143168,4143217,4142861,2311107,4142874,4143192,4143199,4143201,4143202,4143224,4143226,4143174,4143175,4143176,4143179,4143194,4143209,4143216,4143227,4142852,4142862,4142865,4142868,4143198,4143203,4143215,4143225,4143163,4143172,4143180,4143197,4143233,4143193,4143207,4143208,4142871,4143205 10443688,7629520,9062194,1385987,19644155,19643686,19638314,19618316,19607807,19603010,19594368,19573080,19550417,19544973,19544559,19527514,19506726,19505919,19505916,19497711,19495883,19494218,19489682,19470040,19453261,19431193,19427781,19419456,19418669,19408823,19399323,19347053,19338208,19336475,19336370,19334424,19332120,19322919,19295440,19290417,19290009,19280228,19272615,19269948,19267917,19258923,19258032,19247692,19203086,19191798,19151976,19142372,19141860,19135625,19132772,19129082,19127455,19125864,19117745,19111743,19102413,19086955,19076825,18386294,18385937,18364273,18361937,18354254,18333945,18332090,18329282,18322311,18321309,18299273,18288454,18288276,18278133,18272394,18271063,18243027,18239554,18186699,18180150,18165865,18086767,18069935,18063673,18052726,18052703,18047563,18038187,18008080,17993728,17964974,17963170,17959519,17948066,17926179,17914732,17907045,17903994,17900737,17899305,17867984,17847930,17846855,17760842,17716546,17703412,17656565,17645476,17640324,17627763,17618436,17611673,17611547,17610660,17607547,17607501,17596285,17593860,17592300,17584583,17572155,17548705,17532232,17483707,17482260,17459217,17454884,17453104,17448214,17446060,17444864,17444587,17443229,17413037,17391700,17388919,17380888,17373677,17359523,17351514,17348243,17335371,17332449,17327408,17324969,17314118,17309751,17295877,17292896,17290743,17286233,17258699,17257312,17256873,17235630,17224277,17222831,17207379,17182583,17177339,17176440,17174563,17115419,17114844,17113632,17107994,17096351,17083033,17074546,17069782,17068065,17035400,17034724,17026469,17005410,17002905,16985030,16984283,16980335,16938461,16937503,16921503,19074885,19073760,19066720,19058789,19053923,19046297,19031173,19030199,19026700,19026124,19019335,19013788,19012493,19009622,19004046,18987561,18942754,18940468,18926055,18853133,18838927,18832862,18821666,18818748,18815552,18814951,18810365,18808736,18807132,18805892,18782283,18779738,18773331,18771989,18763028,18761558,18754838,18728809,18723088,18715339,18702109,18688110,18676680,18666137,18665932,18633131,18632425,18624935,18597398,18589098,18581280,18579366,18572364,18565646,18551993,18545091,18496214,18494930,18484691,18484169,18471873,18468936,18464913,18455629,18451331,18423886,18416755,18396210,18389618,10512743,9933103,9710237,9597123,9514884,9169134,8992991,8852605,8726668,8432529,8188271,8175703,8045306,7867645,2147937,2143761,2139180,2137201,2137200,1834644,1828896,1827201,1534997,1479000,1386337,20621920,11264025,20140262,20734064,20802378,20568250,20839488,20863445,20880168,20880945,20934174,20940514,20942594,20975573,21035110,21037510,21048327,21049406,21054807,21086908,19925477,16911569,15878285,15223609,12913327,10625660,16906455,16905295,16907768,16900886,16886894,16885604,16879054,16873708,16856121,16842617,16839849,16824064,16820919,16820326,16817913,16815316,16804398,16777324,16769128,16766392,16764597,16741227,16699452,16698387,16638698,16637265,16636119,16635751,16635219,16596202,16595248,16579840,16573560,16553947,16550552,16549749,16540751,16538639,16519819,16510430,16456536,16454826,16436009,16423338,16414081,16409203,16405550,16403098,16389181,16369899,16362796,16361815,16361275,16335952,16319982,16318998,16301842,16284379,16284368,16268484,16263000,16246569,16244470,16226351,16217062,16202742,16200608,16195370,16183821,16174285,16172101,16164697,16159520,16142351,16128937,16126303,16115908,16114018,16109659,16106254,16100774,16098232,16096333,16088107,16078996,16053468,16043936,16026159,16025481,16019233,16019127,15986200,15954918,15943888,15931231,15927855,15923123,15900570,15885804,15884119,15866604,15851404,15836820,15830637,15803022,15800325,15797878,15766560,15733644,15730917,15727567,15723707,15717635,15704154,15694997,15679582,15672946,15670034,15644653,15610073,15602586,15579481,15574426,15570075,15566952,15562761,15551344,15540224,15539764,15535834,15530901,15512788,15507961,15507960,15489334,15485792,15476179,15457475,15379752,15339690,15338333,15325407,15318032,15305821,15292002,15286433,15270852,15266130,15250242,15247172,15241561,15236174,15235132,15233701,15231136,15205567,15201366,15190266,15188516,15184943,15181037,15171792,15170937,15144571,15141093,15127646,15082121,15077300,15056081,15036607,15036245,15030461,15020290,14997019,14986816,14984963,14982742,14758530,14753487,14750640,14735144,14734209,14673228,14672899,14669220,14664464,14657427,14656692,14652282,14647192,14644395,14634582,14634579,14633943,14632761,14611908,14586324,14585879,14568678,14566095,14533660,14522096,14521725,14514232,14504049,12958619,12938145,12930389,12919285,12901853,12891537,12854083,12847695,12828754,12824054,12820354,12801479,12794527,12788304,12775358,12768436,12764021,12746914,12746420,12730860,12730545,12729191,12722027,12718576,12714264,12694213,12686792,12679428,12667286,12667023,12645941,12626603,12624309,12618859,12609525,12595908,12593203,12578333,12568735,12551827,12547728,12530098,12519748,12496176,12477932,12472674,12468823,12454835,12453918,12452470,12445604,12445219,12441323,12355453,12240899,12239970,12220547,12165808,12164325,12161099,12161036,12160520,12140751,12136897,12133467,12115182,12115161,12114904,12111633,12105837,12102486,12095061,12082592,12082590,12070246,12044341,11991722,11876758,11876744,11858187,11846196,11841553,11841485,11840488,11816697,11803448,11802774,11793861,11784248,11770040,11762793,11686217,11665981,11641511,11640949,11606496,11606494,11600466,11574262,11531943,11466363,11448121,11423389,11278614,11247888,11233912,11171832,11145836,11138328,11127488,11093146,11045853,11033452,11027520,11023482,10988299,10948677,10860666,10786823,10744718,10673296,18029348,18336824,18583979,18703194,19134476,19170196,19375283,19574724,19625176,19664671,19683555,19684156,19692168,19701653,19702713,19706048,19711225,19729601,19733643,19733878,19764937,19773279,19784523,19804405,19811432,19811433,19811434,19818512,19820020,19822419,19822442,19839644,19844779,19850242,19860911,19876593,19889076,19892918,19900796,19904560,19909950,19930406,19934104,19948975,20002810,20005085,20012999,20032313,20034444,20056442,20070880,20080142,20087638,20092400,20113413,20131253,20141484,20169140,20175886,20178882,20185814,20188863,20192980,20193596,20196868,20200422,20207250,20213229,20213597,20237151,20237496,20305143,20334849,20335539,20347268,20353565,20364673,20378664,20379614,20399384,20400062,20427258,20450372,20452482,20453000,20463618,20467172,20472930,20482626,20484876,20486195,20495422,20503287,20536609,20412719,20837746,19913121,20485444,20551628,20564140,20572897,20581747,20592454,20595916,20603050,20626741,20628086,20630038,20631624,20650788,20654748,20673868 1626666,1626667,1626674,1626672,1626673,1626680,1626668,1626664,1626665,1626677,1626679,1358741,4142816,4143183,4143222,4142864,4143181,4143167,4143204,4142853,4143213,4143228,4143178,4142802,4143206,4143177,4143231,4143190,4143191,4143168,4143217,4142861,2311107,4142874,4143192,4143199,4143201,4143202,4143224,4143226,4143174,4143175,4143176,4143179,4143194,4143209,4143216,4143227,4142852,4142862,4142865,4142868,4143198,4143203,4143215,4143225,4143163,4143172,4143180,4143197,4143233,4143193,4143207,4143208,4142871,4143205 3557 AJ005835,AK290898,AK290926,BC009745,BC068441,BI766516,CR605915,CR606622,CR616671,CR619093,CR625646,M55646,X52015,X53296,X84348,NM_173841,NM_173843,NM_000577,NM_173842,A49726,A50144,AC024704,AF057168,AY196903,BN000002,CH471217,M63099,U65590,X64532,AF043143,NG_021240,HI656437 AAC39672,CAA06730,BAF83587,BAF83615,AAH09745,AAA59138,CAA36262,CAA37386,CAA59087,P18510,Q53SC2,Q9UP87,ABM83492,ABM86707,NP_776213,NP_776215,NP_000568,NP_776214,CAA03191,CAA03210,AAX93278,AAC13499,AAN87150,CAD29879,EAW73621,EAW73622,EAW73623,EAW73624,EAW73625,AAB41943,AAB92268,AAB92269,AAB92270,CAA45832,CBY45189 Hs.81134 DIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MGC10430|MVCD4 IL1 inhibitor|IL1RN (IL1F3)|OTTHUMP00000203730|interleukin-1 receptor antagonist protein|intracellular IL-1 receptor antagonist type II|intracellular interleukin-1 receptor antagonist (icIL-1ra)|type II interleukin-1 receptor antagonist protein-coding 730858 IL2 interleukin 2 The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq] 2313574,1600060 20225066,20562654,20193755,17115417,17110377,17097050,17077180,17052299,17002904,16984280,16966412,16961803,16938461,16920920,16889932,16885196,16864906,16864905,16824159,16805135,16783532,16690518,16678358,16621991,16606671,16584887,16573560,16567828,16518704,16478922,16477002,16389181,16361891,16333313,16323127,16293754,16293250,16169852,16164695,16148026,16132828,16125242,16100774,16091861,16060678,15976176,15964333,15951664,15910743,15904474,15895884,15841456,15841182,15814282,15749888,15733644,15728489,15710467,15686714,15676209,15563472,15562014,15539078,15514847,15489334,15458467,15361128,15353479,15347678,15339934,15271977,15259063,15247007,15238074,15191519,15187164,15170937,15152368,11981437,11940709,11914641,11911478,11841848,11826762,11743717,11714800,11689614,11544437,11525806,11385624,11354638,11315919,11261789,11254713,11114167,11093171,11035066,10662798,10570282,10207088,10201969,9811677,9517986,9516115,9334723,9311917,9209269,9187267,9065434,9045614,8824916,8757311,8402910,8207793,8183373,8118889,8095514,8049354,7999066,7983746,7963560,7734194,7722480,7695626,7591871,7529123,6403867,6333684,6330695,6324170,6321163,6318318,6312994,6306584,6201860,3877307,3500515,3491296,3265909,3264184,3262520,3260003,2793860,2109157,1993646,1631562,1510960,1396583,1394441,1316918,9534962,1832084,16393999,12605694,7697734,1905933,8706326,2842093,7957556,17177332,11350667,9007200,2315327,1888898,1346976,2552026,9226175,10985305,10618429,8769094,7589092,9712080,9045910,7642615,15120188,15104679,15100259,15057902,15005726,15001467,14975604,14722108,14715519,14707112,14688528,14687725,14680494,14675394,14607929,14607923,14566095,14522096,14499500,12960316,12944981,12884288,12864971,12851716,12826231,12826155,12816983,12808095,12759392,12727483,12727482,12717025,12687247,12646760,12633940,12610796,12604780,12582206,12557940,12542496,12536241,12504009,12486027,12480696,12477932,12464620,12456594,12409183,12393431,12392859,12358847,12354383,12354082,12200381,12193716,12176041,12171778,12162871,12144536,12121273,12105273,12089714,12072494,12055219,7523014,2052609,1527859,10196292,15638726,8765022,8598486,8102828,16354571,10393966,11418623,8626603,2303462,15175153,20227890,20568250,20716621,20802378,20811626,20839488,20942272,20960273,20962850,20973039,21035858,21061265,21072155,21086908,20557936,20236616,16482511,19088061,18418394,17142786,10072077,3925347,8476561,10929056,2342538,9184696,6608729,19638314,19594368,19573080,19543959,19527514,19523143,19522766,19505916,19497711,19495883,19494280,19471255,19470040,19414780,19408823,19404967,19364969,19339796,19332120,19302705,19284443,19279357,19258923,19250279,19234188,19201773,19200845,19141488,19126646,19117745,19105930,19099187,19073967,19058987,19058298,19019335,18972297,18942754,18932275,18818748,18805825,18794598,18780949,18780166,18776133,18773331,18769450,18768844,18761558,18755820,18714042,18676770,18676680,18663124,18650128,18633131,18632425,18628433,18624934,18614637,18593762,18576303,18574615,18566561,18543227,18522869,18496418,18481948,18430737,18423386,18348982,18331736,18324310,18311140,18309287,18299274,18275276,18271063,18239807,18209044,18207244,18192685,18174230,18165865,18097023,18077789,18073500,18023521,18021981,18021367,17994425,17985312,17981806,17981641,17956522,17949552,17913045,17900510,17889143,17761346,17728221,17714919,17703412,17651815,17627763,17592174,17571248,17558408,17541281,17537734,17460561,17457216,17444587,17439892,17396252,17355643,17337059,17336597,17327408,17257312,17237447,17222831,17215524,17203290,17175263,17152005,20542085,15654770,17715020,18095604,19170196,19351491,19406689,19427348,19430480,19450160,19453859,19502081,19625176,19648290,19675167,19683555,19692168,19693089,19693092,19707465,19710466,19718824,19733878,19773279,19773451,19787624,19832038,19860911,19889958,19892918,19925666,19938203,19951419,19965651,20027321,20049409,20060205,20072139,20082482,20100932,20112382,20129796,20145925,20177758,20179739,20182632,20184734,20190192,20190752,20203524,20213229,20219786,20221423,20222161,20233754,20331378,20378664,20418110,20424473,20438365,20444755,20452482,20453000,20484443,20498205,20503287,8262055,20814620,20544350,20671116,20679529,20870937,20883322,8493579,20453842,20465575,21037099,19913121,20485444,20594918,20595916,20596022,20599261,20603050,20626741,20628086,20673868,17207965,20553587 2313574,1600060 3558 AC022489,AF031845,AF359939,CH471056,CQ847559,J00264,K02056,M13879,M22005,M33199,X00695,X61155,AB451325,AB451454,AF228636,AF532913,AY283686,AY523040,NM_000586,BC066254,BC066255,BC066256,BC066257,BC070338,DQ231169,DQ861285,S77834,S77835,S82692,U25676,V00564,X01586,A14844,NG_016779,GM863577,HC025835,HI574002 P60568,NP_000577,AAB86861,AAK26665,EAX05227,CAH18032,AAD48509,AAA98792,AAA59141,AAA59140,AAA59139,CAA25292,BAG70139,BAG70268,AAG53575,AAM97916,AAP35033,AAS17753,AAH66254,AAH66255,AAH66256,AAH66257,AAH70338,ABB20900,ABI20697,AAD14263,AAD14264,AAB46883,AAA70092,CAA23827,CAA25742,Q0GK43,Q13169,Q16334,Q309Q7,Q6NZ91,Q6NZ93,Q6QWN0,Q71V48,Q7Z7M3,Q8NFA4,Q9C001,CAA01199,CAT16485,CBH19848,CBX47490,ADQ32007 Hs.89679 IL-2|TCGF|lymphokine T cell growth factor|aldesleukin|interleukin-2|involved in regulation of T-cell clonal expansion protein-coding 1353403 IL20 interleukin 20 The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq] 1580863 11470428,19342680,19258923,19087313,18771958,18758357,18479293,18281438,18061474,19430480,19481430,19802007,19830738,20061404,20237496,20503287,17703412,17465720,17263806,17255956,17083366,16908179,16778121,16709143,16645593,16511554,15950941,15815689,15489334,15340161,14675174,14580208,12975309,12855566,12667095,12477932,12351624,12023331,11163236,15857508,20976276 50604 BC069425,BC069449,BC069487,BC069523,BC069559,BC074948,BC074949,BC117386,BC117390,BC069398,NM_018724,AC098935,AF402002,CH471100,AF224266,AY358320,AY876922,BC069311,BC069364 AAH69398,AAH69425,AAH69449,AAH69487,AAH69523,AAH69559,AAH74948,AAH74949,AAI17387,AAI17391,Q2THG6,Q9NYY1,NP_061194,AAK84423,EAW93520,EAW93521,AAF36679,AAQ88686,AAW78348,AAH69311,AAH69364,ADR83490 Hs.272373 IL-20|IL10D|MGC96907|ZCYTO10 OTTHUMP00000034618|cytokine Zcyto10|four alpha helix cytokine|interleukin-20 protein-coding 1316471 IL20RA interleukin 20 receptor, alpha The protein encoded by this gene is a receptor for interleukin 20 (IL20), a cytokine that may be involved in epidermal function. The receptor of IL20 is a heterodimeric receptor complex consisting of this protein and interleukin 20 receptor beta (IL20B). This gene and IL20B are highly expressed in skin. The expression of both genes is found to be upregulated in Psoriasis. [provided by RefSeq] 1580863 18480827,15340161,15178681,14764663,14702039,14580208,14574404,12975309,12477932,12351624,11706020,11564763,11163236,10875937,8889548,20800603,19666410,19926456,20237496,19913121,20628086 53832 NM_014432,AL135902,CH471051,AF184971,AJ420490,AK098312,AK297121,AK307072,AK315293,AY358883,BC113574,BC113602,BM713319 NP_055247,CAC38375,CAC38376,EAW47936,EAW47937,EAW47938,AAF01320,BAG59627,BAG37699,AAQ89242,AAI13575,AAI13603,Q9UHF4,ADR83206 Hs.445868 FLJ40993|IL-20R1|ZCYTOR7 CRF2-8|IL-20 receptor subunit alpha|IL-20R-alpha|IL-20RA|class II cytokine receptor ZCYTOR7|cytokine receptor class-II member 8|cytokine receptor family 2 member 8|interleukin-20 receptor I|interleukin-20 receptor subunit alpha protein-coding 1349896 IL20RB interleukin 20 receptor beta IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM] 18480827,16703417,15489334,15340161,14580208,12975309,12477932,12351624,11564763,11181995,11163236,17207965,19043545,19666410 53833 HI651134,NM_144717,AC011597,CH471052,CS109193,CS110198,CS253333,AK296832,AK316084,AY358305,BC027449,BC033292,BC063696,CR590848,CR604488,HC305538,CS465983 CBX89254,NP_653318,EAW79099,EAW79100,EAW79101,EAW79102,EAW79103,EAW79104,CAJ09895,CAJ09909,CAJ65781,BAG59402,BAH14455,AAQ88672,AAH33292,AAH63696,Q6UXL0,Q8IYY5,CBJ18627,ADQ31941,CAM31821 Hs.61232 DIRS1|FNDC6|IL-20R2|MGC34923 IL-20 receptor subunit beta|IL-20R-beta|IL-20RB|fibronectin type III domain containing 6|interleukin-20 receptor II|interleukin-20 receptor subunit beta protein-coding 1316553 IL21 interleukin 21 1580863 20594126,20423656,17207965,20186935,16482511,12504082,14635054,15207081,15765404,11081504,19592644,19592276,19523143,19471255,19404967,19302705,19258923,19234181,19233474,19201773,19073967,19026702,18981102,18947877,18829491,18805825,18802358,18788946,18773086,18684866,18641314,18593762,18482208,18469800,18418394,18311140,18299268,18296629,18222514,18209077,18182577,18056361,17988587,17947662,17938255,17921346,17888893,17785794,17720724,17713571,17712836,17703412,17698559,17673207,17672918,17624663,17565991,17509926,17462506,17442980,17241869,17178921,17142735,17130531,17015709,17015683,16551679,16424177,16406655,16339522,16138102,16081794,16002671,15919378,15684054,15494482,15489334,15178704,15147560,15100251,12893770,12759422,12477932,12244150,11418623,11267886,8626603,17558408,19998455,19997967,20079789,20519650,20453842,20553587,20596022,20848568,20881011,20962850,21048031,15546387,19447148,19561536,19608866,19617351,19648290,19675172,19684581,19693089,19762555,19774453,19797296,19949086,20048285,20049410,20072139,20103765,20112382,20190192,20190752,20203524,20219786,20233754,20237496,20444755,20498205,20503287,21064084 59067 NM_021803,AC053545,AY763518,CH471056,CS080568,CS237090,AF254069,BC066258,BC066259,BC066260,BC066261,BC066262,BC069124,DQ645417,CS450761,CS582814,FB677173,GM619752,HB976773,HC196689,HC203173,HC203434,HC686913 NP_068575,AAU88182,EAX05226,CAI94500,CAJ47524,AAG29348,AAH66258,AAH66259,AAH66260,AAH66261,AAH66262,AAH69124,ABG36529,Q9HBE4,ADQ31944,CAL81203,CAN87399,CAS03522,CAV33288,CBE74752,CBI70418,CBI85469,CBI85472,CBL93962 Hs.567559 IL-21|Za11 interleukin-21|interleukin-21 isoform protein-coding 1312687 IL21R interleukin 21 receptor The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1600111,1580863 11081504,19230867,19075398,17624663,17462506,17032244,17015683,16867043,16391014,16260592,15751077,15489334,15340161,15146416,12975309,12700598,12477932,11418623,11016959,7566098,16344560,19322899,19617351,19644854,19851296,19874204,20059963,20072140,20193734,20198315,20237496,21048031 1600111 50615 NM_181078,NM_181079,NM_021798,NG_012222,AC002303,AC004525,AY064474,CH471145,CS080576,AA354979,AF254067,AF269133,AK292663,AK312825,AY358826,BC004348,BC007946,BQ215949,BX401767,AW576566,DB115361,CS450755,FB702445,HB976766,HC005802,HC196703,HC202963,HC203224,HC686703,HI574132,HI574134,HI574136 NP_851564,NP_851565,NP_068570,AAL39168,EAW55746,EAW55747,EAW55748,EAW55749,CAI94502,AAG29346,AAG23419,BAF85352,BAG35682,AAQ89185,AAH04348,AAH07946,Q9HBE5,ABM87726,ABW03862,CAL81201,CAS03334,CBE74748,CBG76750,CBI70421,CBI85467,CBI85470,CBL93960,CBX47555,CBX47556,CBX47557 Hs.210546 MGC10967|NILR IL-21 receptor|IL-21R|interleukin-21 receptor|novel interleukin receptor protein-coding 1344987 IL22 interleukin 22 1580863 10875937,11481447,10954742,19620772,19479869,19469905,19449309,19285080,19258923,19244159,19046958,18978771,18927282,18675824,18675809,18615114,18599299,18509351,18391423,18264110,18191408,17845543,17703412,17442982,17204547,17182579,16537974,16143135,15765404,15489334,15340161,15122762,15039135,12975309,12477932,12176383,12087100,11856845,11390453,11197690,11035029,10657629,17207965,20671117,20305686,19122664,19481975,19811428,19830738,19864591,19920355,20032993,20061404,20065946,20237496,20339910,20503287,20220564 50616 NM_020525,AC007458,AC022511,AF387519,AJ277248,CH471054,CQ889879,CQ889941,AF279437,AJ277247,AY358890,BC066263,BC066264,BC066265,BC066266,BC067509,BC067510,BC069112,BC069308,BC070261,CD559617,CS425140,CS719533,HC679523,HC888910 NP_065386,AAK62468,CAC19409,EAW97182,CAH61624,CAH61629,AAG22064,CAC06085,AAQ89249,AAH66263,AAH66264,AAH66265,AAH67509,AAH67510,AAH69112,AAH69308,AAH70261,Q6NWP4,Q6NZ83,Q6NZ84,Q9GZX6,ADQ32907,CAL60104,CAP40185,CBL86572,CBM42922 Hs.287369 IL-21|IL-22|IL-D110|IL-TIF|IL21|ILTIF|MGC79382|MGC79384|TIFIL-23|TIFa|zcyto18 IL-10-related T-cell-derived inducible factor|IL-10-related T-cell-derived-inducible factor|cytokine Zcyto18|interleukin 21|interleukin-22 protein-coding 1352751 IL22RA1 interleukin 22 receptor, alpha 1 The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq] 19240061,19393422,19285080,18675824,18675809,18599299,18376313,17906500,12477932,11035029,10875937,9373149,8125298,20671117,19632985,19666410,19731362,20237496 58985 AL590683,AL591178,CH471134,AF286095,AK226001,AK292204,AK304454,AK308522,AK313971,BC014096,BC029273,NM_021258 NP_067081,CAH70116,CAH72088,EAW95111,AAG22073,BAF84893,BAG65271,BAG36686,AAH29273,Q8N6P7 Hs.110915 CRF2-9|IL22R|IL22R1 IL-22 receptor subunit alpha-1|IL-22R-alpha-1|IL-22RA1|cytokine receptor class-II member 9|cytokine receptor family 2 member 9|interleukin-22 receptor subunit alpha-1|zcytoR11 protein-coding 1322028 IL22RA2 interleukin 22 receptor, alpha 2 The protein encoded by this gene is a soluble class II cytokine receptor. This protein has been shown to specifically bind to interleukin 22 (IL22), block the interaction of IL22 with its cell surface receptor, and thus inhibit IL22 activity. This protein functions as an IL22 antagonist, and may be important in the regulation of inflammatory response. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 11390454,11390453,19285080,19240061,18675824,15340161,15201862,14574404,12975309,12700595,11607789,11481447,21041731,12477932,19193995,19393422,19926456,20237496 116379 AJ313162,AY040566,AY040567,AY040568,AY044429,AY358111,AY358737,BC125167,BC125168,AJ313161,NM_181310,NM_181309,NM_052962,AL050337,AY779023,CH471051,CQ889886,CQ889948,AI824338,AJ297262,CS425147,CS719540,HC888917 CAC85634,CAC85635,AAK85714,AAK85715,AAK85716,AAK91775,AAQ88478,AAQ89097,AAI25168,AAI25169,Q969J5,NP_851827,NP_851826,NP_443194,CAI21589,CAI21590,CAI21591,AAV31775,EAW47933,EAW47934,EAW47935,CAH61626,CAH61631,CAC83097,CAL60107,CAP40188,CBM42925 Hs.126891 CRF2-10|CRF2-S1|CRF2X|IL-22BP|IL-22RA2|MGC150509|MGC150510 IL-22 receptor subunit alpha-2|IL-22R-alpha-2|class II cytokine receptor|cytokine receptor class-II member 10|cytokine receptor family 2 member 10|cytokine receptor family type 2, soluble 1|interleukin 22-binding protein|interleukin-22 receptor subunit alpha-2|interleukin-22-binding protein|zcytoR16 protein-coding 731906 IL23A interleukin 23, alpha subunit p19 This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq] 20956338,20682175,20953190,18606709,18579762,18497880,18490716,18408745,18373953,18319400,18311793,18190588,18180107,18054783,18029348,17945537,17763202,17606463,17564777,17236132,17187052,17182554,17021762,17007011,16772281,16751425,16688182,16670765,16424222,16342235,16339539,16300465,15731058,15583831,15489334,15486065,15114670,15070757,14707118,12975309,12847224,12525561,12477932,12421946,12162874,12023369,11390512,11114383,8570611,19605880,19587005,19542431,19426392,19333939,19322214,19264456,19262574,19201028,19169254,19088061,19040306,19034457,18825388,18786233,18752933,18708069,18680750,12671732,19915944,20428758,20154336,15265908,16482511,17888176,18754016,19247658,19431078,19479806,19542049,19657406,19705136,19797506,19845828,19900478,19929695,20027291,20054003,20071030,20331378,20106535,20603238,16341674,20624950,18675459,20840651,17207965 51561 NM_016584,AB030001,AC025574,CH471054,AB030000,AF301620,AJ506993,AY359083,BC066267,BC066268,BC066269,BC067511,BC067512,BC067513,BM851337,U38443,HI574128,CS498403 NP_057668,BAA93687,EAW96933,BAA93686,AAG37232,CAD45088,AAQ89442,AAH66267,AAH66268,AAH66269,AAH67511,AAH67512,AAH67513,Q9NPF7,CBX47553,CAM82731,ADQ32075 Hs.98309,Hs.382212 IL-23|IL-23A|IL23P19|MGC79388|P19|SGRF IL-23 subunit alpha|IL-23-A|IL-23p19|JKA3 induced upon T-cell activation|interleukin 23 p19 subunit|interleukin-23 subunit alpha|interleukin-23 subunit p19 protein-coding 1351657 IL23R interleukin 23 receptor The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq] 19422935,19369463,19334001,19317742,19306001,19294505,19276991,19262574,19262523,19258923,19240061,19235913,19189980,19175939,19174780,19169254,19165485,19122664,19103559,19103525,19035472,19021011,18824555,18800148,18779654,18758464,18715515,18713787,18698678,18650833,18615094,18587394,18560602,18521924,18521914,18647855,19034457,19235914,19522770,19525409,19590455,19690863,19700857,19705136,19757086,19861958,19877036,19895338,19896081,19915572,19917163,19918037,20014019,20024904,20062062,20066736,20082483,20082850,20116410,20157760,20173782,20177049,20192940,20197757,20367798,20375120,20379614,20380008,20428899,20485703,20503287,20537165,20541026,20953190,12421946,15114670,18030204,18022867,17993580,17952073,17901940,17894849,17877509,17854611,17804789,17786191,17703412,18034172,17678845,17678723,17661912,17618837,17606463,17587057,17554300,17534574,17508420,17484863,17447842,17435756,17337463,17309073,17236132,17068223,16710414,16372191,15489334,12477932,12023369,18512797,18499543,18470928,18438406,18383521,18383363,18383179,18369459,18368064,18338763,18219280,18209723,18200510,18199597,18180107,18166373,18164077,18162085,18088064,18082575,18075513,18073300,18047540,19913121,20549515,20607725,20622878,20622879,20622911,20628086,20228799,20570966,11114383,21102463,19760754,20846217,20863779,20886065,20962850,20978829,21068102,21072187 149233 AY937251,AY937252,AY937253,AY937254,AY937255,BC016829,BC040720,BC142955,FM212237,FM212238,FM212239,FM212240,FM212241,NG_011498,AL109843,AL389925,CH471059,AF461422,AM990313,AM990314,AM990315,AM990316,AM990317,AM990318,AM990319,AM990320,AM990321,AM990322,AM990323,AM990324,AM990325,AM990326,AM990327,AM990328,AM990329,AM990330,AM990331,AM990332,AM990333,AM990334,AM990335,AM990336,AM990337,AY937250,NM_144701 AAY18345,AAY18346,AAY18347,AAY18348,AAY18349,AAY18350,AAH16829,AAH40720,CAR79024,CAR79025,CAR79026,CAR79027,CAR79028,Q5VWK5,AAI66698,NP_653302,CAI22678,CAI22679,CAH70406,CAH70408,EAX06501,EAX06502,AAM44229,CAQ51232,CAQ51233,CAQ51234,CAQ51235,CAQ51236,CAQ51237,CAQ51238,CAQ51239,CAQ51240,CAQ51241,CAQ51242,CAQ51243,CAQ51244,CAQ51245,CAQ51246,CAQ51247,CAQ51248,CAQ51249,CAQ51250,CAQ51251,CAQ51252,CAQ51253,CAQ51254,CAQ51255,CAQ51256 Hs.677426 IL-23 receptor|interleukin-23 receptor protein-coding 1605405 IL24 interleukin 24 This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 9826712,19535621,19087313,19056673,18941194,18842498,18723497,18599461,18511292,18376144,18281516,18281515,18278464,18061474,18029348,18025283,17828282,17703412,17627414,17305874,17263806,17178890,17178884,17083366,16912197,16264231,15851011,15815689,15709189,15580305,15564140,15489334,15383566,15340161,15334067,15304100,15273727,12907144,12907143,12811827,12606943,12533668,12485618,12477932,12395925,12351624,12182458,12114539,12085234,12055212,11844832,11706020,11704829,11163236,10942517,8799171,8545104,20962850,20976276,15342556,16313301,19276652,19666410,19734147,19802007,19916746,19965640,20061404,20072629,20103619,20163249,20179672,20187794,20189296,20216471,20383178,20406981,20501829,20503287,20858700 11009 BC009681,BT007156,CR601530,U16261,NM_006850,AC098935,AF217405,AF235005,AF276916,AY062931,CH471100,CS284546,AI521306,AW949784,AY237723,AY641440,AY641441,BP222545,BP222651,NM_001185156,NM_001185157,NM_001185158,GN337314,GN368442 AAH09681,AAP35820,AAA91780,Q13007,Q2YHE5,Q2YHE6,Q53XZ7,Q5YLN8,ABM81582,ABM81583,ABM84762,ABM84769,NP_006841,AAK52589,AAG41401,AAL34146,EAW93518,EAW93519,CAJ98561,AAO67513,AAV52800,AAV52801,NP_001172085,NP_001172086,NP_001172087,CAY39296,CAY86021 Hs.58831,Hs.728324 C49A|FISP|IL-24|IL10B|MDA7|MOB5|Mob-5|ST16|mda-7 interleukin-24|melanocyte-associated Mda-7|melanoma differentiation association protein 7|melanoma differentiation-associated gene 7 protein|suppression of tumorigenicity 16 (melanoma differentiation) protein-coding 1344819 IL25 interleukin 25 The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. This cytokine can induce NF-kappaB activation, and stimulate the production of IL8. Both this cytokine and IL17B are ligands for the cytokine receptor IL17BR. Studies of the similar gene in mice suggested that this cytokine may be a proinflammatory cytokine favoring Th2-type immune response. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 11058597,17207965,19329997,19129540,19095584,17889290,17719653,17635955,16950278,16522458,15489334,15340161,12975309,12477932,12239140,11754819,11714825,19968632,20237496,20861853,20729468 64806 NM_022789,NM_172314,AL049829,CH471078,AF305200,AF458059,AF461739,AY359127,BC069565,BC104929,BC104931,FB726952,GN034129 NP_073626,NP_758525,EAW66161,EAW66162,AAG40848,AAL57622,AAN39038,AAQ89484,AAH69565,AAI04930,AAI04932,Q9H293,ACE87341,ACE86659,ADQ32926,CAT03415,CAX36792 Hs.302036 IL-17E|IL-25|IL17E interleukin 17E|interleukin-17E|interleukin-25 2315792 GLUCO171_H protein-coding 1346180 IL26 interleukin 26 This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. 1580863 11197690,10729163,18332247,15489334,15178681,14764663,14558082,12477932,11528524,17703412,18483078,19122664,19258923,20176734,20237496,20379614,20503287,20228799,17207965 55801 NM_018402,AC007458,AJ251550,AJ251551,AY509906,CH471054,AJ251549,BC066270,BC066271 NP_060872,CAB77049,AAR87776,EAW97181,CAB76942,AAH66270,AAH66271,Q9NPH9,ADQ32042 Hs.272350 AK155|IL-26 interleukin-26 protein-coding 1343577 IL27 interleukin 27 The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq] 1580863 12734330,19582813,19549909,19523673,19380822,19258923,19148899,19124747,18557702,18554158,18482209,18453571,18424756,18191724,18178151,18167155,17985330,17703412,17318299,17068156,16751375,16670765,15793300,14764690,14657353,12477932,12121660,20375623,20604932,20435892,20952070,20971923,20974984,21102463,20817868,20519510,17207965,19430480,19556424,19620301,19625647,19657406,19686419,19798410,19915574,19924133,20112358,20176734,20301193,20503287,20454646 246778 NM_145659,AC138894,CH471279,EF064720,BC062422,AY099296 NP_663634,EAW52277,ABK41903,AAM34498,AAH62422,Q8NEV9,ADQ32049 Hs.528111 IL-27|IL-27A|IL27p28|IL30|MGC71873|p28 IL-27 p28 subunit|IL-27 subunit alpha|IL-27-A|IL27-A|interleukin 30|interleukin-27 subunit alpha protein-coding 1312815 IL27RA interleukin 27 receptor, alpha In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq] 9600072,19549909,19258923,18003935,17703412,15489334,14764690,12975309,12734330,12477932,12121660,11057672,19386761,20503287 9466 AF053004,AF106912,AF265242,AI983115,AW298502,AY358876,BC028003,NM_004843,AC022098,CH471106,EF064719,FB507086,HH829741 AAC39755,AAG26090,AAG27297,AAQ89235,AAH28003,Q6UWB1,ABM81977,ABM85156,ABK41902,NP_004834,EAW84389,EAW84390,CAV32862,CBX32720 Hs.132781 CRL1|IL27R|TCCR|WSX1|zcytor1 IL-27 receptor subunit alpha|IL-27R subunit alpha|IL-27R-alpha|IL-27RA|T-cell cytokine receptor type 1|class I cytokine receptor|cytokine receptor-like 1|interleukin-27 receptor subunit alpha|type I T-cell cytokine receptor protein-coding 1351993 IL28A interleukin 28A (interferon, lambda 2) This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq] 1580863 19304895,19193806,17367910,16618774,16539846,16478884,16413080,16146571,16051921,15899585,15850793,12483210,12477932,12469119,20576307,19749758,19798076,20060832,20235331 282616 NM_172138,AY129148,AY184373,AC011445,CH471126,CS055921,CS183953,DQ126336,AY336715,BC113581,BC113583,DQ126337,CS364714,FB742068,GM040592,HI658878,HI659149 NP_742150,EAW56870,CAI75182,CAJ41835,AAZ38827,AAN28263,AAN86126,AAR24510,AAI13582,AAI13584,AAZ38828,Q45KQ8,Q8IZJ0,CAL33801,CAS97663,CAT02301,CBY45347,CBY45407 Hs.567792 IFNL2|IL-28A IFN-lambda-2|cytokine Zcyto20|interferon lambda 2|interferon lambda-2|interferon-lambda 2|interleukin-28A protein-coding 1348657 IL28B interleukin 28B (interferon, lambda 3) This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq] 1580863 19304895,18987645,16618774,16539846,16478884,16413080,20578254,21038423,12483210,12477932,12469119,20621700,20637200,20648473,20659305,20708617,20723035,20728570,20803561,20804372,19457860,19684573,19749757,19749758,19759533,20060832,20176026,20235331,20346265,20389235,20399780,20434452,20455677,20576307,20887330,20889274,20890887,20924369,20931559,20964522,20977343,21048934,21068134,21070502 282617 NM_172139,AC011445,CH471126,AY129149,AY184374,AY336714,AY336717,BC130314,BC130316 NP_742151,EAW56869,AAN28264,AAN86127,AAR24509,AAQ01561,AAI30315,AAI30317,Q8IZI9,ADR82849 Hs.406744 IFNL3|IL-28B|IL28C IFN-lambda-3|IFN-lambda-4|IL-28C|cytokine Zcyto22|interferon lambda-3|interferon lambda-4|interferon, lambda 3|interferon, lambda 4|interleukin 28C|interleukin-28B|interleukin-28C protein-coding 1603554 IL28RA interleukin 28 receptor, alpha (interferon, lambda receptor) The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 20953190,20934432,12483210,12469119,19240061,16819289,16618774,15231747,15166220,14702039,12521379,12477932,1248321,19724244,19798076,20057073,20237496 163702 NM_173065,NM_170743,NM_173064,AL590683,CH471134,CS183947,AF439325,AJ534330,AJ534331,AK160364,AY129151,AY129152,AY129153,BC101407,BC101408,BC101975,BC139722,BC140872,GM662570 NP_775088,NP_734464,NP_775087,CAH70117,CAH70118,CAH70119,CAH70120,CAH70121,EAW95113,EAW95114,EAW95115,EAW95116,EAW95117,EAW95118,CAJ41832,AAN63632,CAD58829,CAD58830,BAD18707,AAN28266,AAN28267,AAN28268,AAI01409,AAI01976,AAI39723,AAI40873,Q3MIC3,Q3ZCM1,Q5VTX7,Q5VTX9,Q8IU57,Q8IV66,CAV33829 Hs.221375 CRF2/12|IFNLR|IFNLR1|IL-28R1|LICR2 CRF2-12|IFN-lambda receptor 1|IFN-lambda-R1|IL-28 receptor subunit alpha|IL-28R-alpha|IL-28RA|class II cytokine receptor CRF2/12|cytokine receptor class-II member 12|cytokine receptor family 2 member 12|interferon lambda receptor 1|interferon lambda, receptor 1|interleukin 28 receptor A|interleukin or cytokine receptor 2|interleukin-28 receptor subunit alpha|likely interleukin or cytokine receptor 2 protein-coding 1347142 IL29 interleukin 29 (interferon, lambda 1) This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq] 1580863 12469119,16014923,15166220,15899585,12483210,19304895,19193806,19155475,18830264,18757365,18698163,18281438,17367910,17252004,17082759,16618774,16539846,16478884,16051921,15850793,15489334,12477932,20934432,20103601,19759281,19798076,20057073,20060832,20592090 282618 NM_172140,AC011445,CH471126,CS055923,CS183955,AY129150,AY184372,AY336716,BC074985,BC117482,BC126183,CS364716,CS443042,CS443044,FB742070,GM040594,GM615402,GM615404,HC206738,HC206740,HI658880,HI659151,HQ214053 NP_742152,EAW56871,CAI75183,CAJ41836,AAN28265,AAN86125,AAR24511,AAH74985,AAI17483,AAI26184,Q8IU54,ADR82839,CAL33802,CAL68893,CAL68894,CAS97664,CAT00937,CAT00938,CAT02302,CBI85489,CBI85490,CBY45348,CBY45408,ADO12077 Hs.406745 IFNL1|IL-29 IFN-lambda-1|cytokine Zcyto21|interferon lambda-1|interferon, lambda 1|interleukin-29 protein-coding 735947 IL2RA interleukin 2 receptor, alpha The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. [provided by RefSeq] 2311527,2311528,2311529,2311530,2311526,1600117,1580863 20562654,17523134,17462597,17420929,17395754,17389235,17372588,17371467,17313446,17304105,17302593,17294624,17275508,17237241,17205058,17175221,17152005,17074352,17062437,16955142,16920911,16911870,16889540,16758122,16750991,16690518,16491350,16477002,16410445,16380476,16339919,16293754,16226465,16126178,16087671,16060678,16034095,16003241,15985167,15972448,15964425,15885081,15776395,15731180,15714205,15713622,15649306,15619904,15617342,15503821,15365604,15353339,15328201,15263076,15197226,14680494,12970897,12698200,12581498,12525482,12486319,12374985,12230826,12200381,12171778,11986281,11960393,11886175,11856346,11485747,11416131,10848593,10815800,10602027,9373149,9268307,9223324,9203962,8943338,8896456,8752938,8530186,20403730,20140262,20716621,20849903,20973039,21048031,20448211,20539016,21131424,19565500,17543960,16698664,8364583,1394441,9096364,2983318,2467293,19527514,19522766,19506219,19505389,19499289,19471255,19377213,19375175,19327240,19289595,19265545,19264985,19258923,19240061,19231135,19192224,19155519,19155502,19139102,19125193,19119414,19116909,19106270,19077408,19073967,19034005,19019335,18978792,18818748,18780166,18715339,18641304,18641303,18593762,18556337,18451325,18390743,18376303,18354419,18287585,18261176,18204854,18174382,18162781,18089681,18059223,18021968,17985312,17981806,17975141,17944116,17878392,17712998,17703412,17676041,17661330,17660530,17645467,17615291,17592174,17591854,8125298,8098618,7862168,7734194,7588634,7539755,7529123,6096720,6090949,6090948,3925551,3135323,3134887,3097520,3030566,2999698,2996141,2990220,2941417,2901720,2785715,2497520,2308942,2153927,2083254,2016116,1993646,1976256,1693645,1685671,1511461,9637477,9341758,2843775,2315327,7903128,7853525,2303462,15784911,1832084,19951265,16385451,18650830,19141347,19303058,19430480,19447046,19523791,19525953,19525955,19637754,19664391,19667946,19667950,19701192,19715524,19734224,19794070,19798683,19822714,19833889,19834503,19849846,19865102,19879194,19923221,19956099,19956753,20032294,20033399,20063526,20164820,20179739,20203524,20213609,20219786,20237496,20346270,20362271,20368992,20378605,20410501,20424473,20452482,20498205,20503287,20930173,20483636,20484297,20453842,20224778,20545784,21102463,19913121,20596022,20599261,20615141,20628086,20673868,20810507,20595929,8493579 2311527,2311528,2311529,2311530,2311526,1600117 3559 NM_000417,NG_007403,AL137186,AL157395,AY563103,BN000945,CH471072,M11066,M15864,X03131,X03138,AF008556,AK223313,AK313847,K03122,M14098,X01057,HI573910 NP_000408,CAI41069,CAI41070,CAI41085,CAH73595,CAH73596,AAS55572,CAK26553,EAW86412,EAW86413,EAW86414,AAA67527,AAA59162,CAA26906,AAB63458,BAD97033,BAG36576,AAB59535,AAA59142,CAA25525,O15163,P01589,Q53FH4,Q5W006,AAI52890,AAI56628,CBX47444 Hs.231367 CD25|IDDM10|IL2R|TCGFR IL-2 receptor subunit alpha|IL-2-RA|IL-2R subunit alpha|IL2-RA|OTTHUMP00000019031|TAC antigen|interleukin 2 receptor, alpha chain|interleukin-2 receptor subunit alpha|p55 2315438 INSUL41_H protein-coding 737611 IL2RB interleukin 2 receptor, beta The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. [provided by RefSeq] 1580863 17115417,17108990,16477002,16380905,16293754,16284400,16084898,15489334,15461802,15350462,15191519,15063762,14680494,12960323,12676936,12477932,12230826,12200137,12133952,11886175,11856346,11750878,11463390,11238664,11133764,11035066,10825200,10602027,10591208,10514520,10373548,10214954,9774657,9553136,9520455,9176231,8700888,8648694,8483935,8294403,8049354,8026467,7973659,7734194,7693677,7641685,7600304,7529123,3925551,2333293,2047859,1973832,1915291,1639773,1557373,1394441,9637477,9341758,2843775,2315327,7973658,2303462,17152005,2467293,7736574,2785715,8514792,19258923,19240061,19019335,18829468,18818748,18791162,18774388,18715339,18592269,18589435,18490721,18445679,18299274,17703412,20495002,20140262,20811626,20860503,20973039,19471255,19527514,19602517,19773451,19817957,19822714,19923221,20049410,20179739,20219786,20237496,20379614,20424473,20498205,20503287,8493579,20585888,19913121,20628086,20728947 3560 CH471095,AK312860,AW193701,BC025691,CR456506,M26062,NM_000878,AF517934,AL022314 CAA18444,CAQ07365,EAW60144,BAG35712,AAH25691,CAG30392,AAA59143,P14784,CAK54535,CAK54834,ABM85025,NP_000869,AAM54040 Hs.474787 CD122|P70-75 CD122 antigen|IL-2 receptor subunit beta|IL-2R subunit beta|IL-2RB|OTTHUMP00000197767|high affinity IL-2 receptor beta subunit|high affinity IL-2 receptor subunit beta|interleukin 2 receptor, beta chain|interleukin-2 receptor subunit beta|p75 protein-coding 731533 IL2RG interleukin 2 receptor, gamma (severe combined immunodeficiency) The interleukin 2 (IL2) receptor gamma chain (IL2RG), an important signalling component of many interleukin receptors (IL2,IL4,IL7,IL9, and IL15), is thus referred to as the common gamma chain. Mutations in this X-chromosome-linked gene cause X-linked severe combined immunodeficiency (XSCID). [provided by RefSeq] 1580863,1600009 16004964,8266076,8266078,8266077,12504082,8514792,19615332,19494261,19258923,19234229,18829468,18791162,18589435,18417356,17703412,17363735,17082603,16477002,16308569,16293754,15702055,15489334,14726805,14680494,12477932,12370829,12207328,12200137,12036606,11886175,11858939,11750878,11426455,11418669,11418623,10662798,9797872,9399950,9326644,9169421,9150740,9010926,8900089,8648694,8643566,8568232,8462096,8401490,8378320,8299698,8088810,8049354,8027558,7973658,7937790,7883965,7860773,7706294,7668284,7641685,7557965,7529123,1976256,1631559,9637477,9341758,2843775,2315327,7973659,9799097,11856346,17474147,19011158,19734221,19802382,19812686,19859091,19923221,20237496,20503287,20592278,8493579 1600009 3561 NM_000206,NG_009088,AL590764,AY692262,CH471132,D16358,L12183,L19546,AB102793,AB102794,AB102795,AB102797,AK298656,AK314932,BC014972,BC071710,CR591866,CR597140,CR599537,CR617630,CR624448,D11086,AB102796,DC345219,GN051377,GN061222 NP_000197,AAT85803,EAX05319,BAA03861,AAA59145,AAC37524,BAD89384,BAD89385,BAD89386,BAD89388,BAH12839,BAG37438,AAH14972,BAA01857,P31785,Q5FC09,Q5FC11,Q5FC12,Q5FC13,Q6LER1,ABM86377,ABW03788,BAD89387,Q5FC10,CAX52142,CAX52189 Hs.84 CD132|IL-2RG|IMD4|P64|SCIDX|SCIDX1 CD132 antigen|IL-2 receptor subunit gamma|IL-2R subunit gamma|common cytokine receptor gamma chain|common gamma-chain|cytokine receptor common subunit gamma|gamma(c)|interleukin 2 receptor, gamma (severe combined immunodeficiency)|interleukin 2 receptor, gamma chain|interleukin-2 receptor subunit gamma|severe combined immunodeficiency protein-coding 737391 IL3 interleukin 3 (colony-stimulating factor, multiple) The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq] 1580863,2317663,2317666,2317665 2544122,18692472,3497400,9736740,9722506,19262575,19258923,19247692,19201898,19158269,19131452,19074885,18829683,18826654,18804346,18768389,18676680,18633131,17703412,17624239,17541278,17507237,17362254,17273755,17179997,16785501,15988318,15878977,15585837,15576295,15489334,15372320,15372022,20472554,20381581,20738848,17207965,20800603,21071541,20516062,10477722,15060062,14755254,14675189,14628073,14615378,14564341,14551608,12943658,12884288,12855588,12759409,12612065,12477932,12423306,12165512,12135758,12093816,12055233,12002675,11994280,11861295,11763346,11714768,11700046,11486081,11399510,11179015,9659156,9629242,9551928,9278420,9113989,8676386,8649415,8516290,3497843,3489530,3127463,2268499,1833064,12089333,8018916,7642615,9209414,7957082,19913121,20628086,20673868,10677502,19170196,19529981,19578876,19625176,19692168,19730683,19829692,19845895,20147630,20210668,20237496,20332709,20424473,20452482,20453000,20503287,9030599,21102463 2317663,2317666,2317665 3562 NM_000588,AC004511,AC034228,AF365976,CH471062,BC066272,BC066273,BC066274,BC066275,BC066276,BC069472,M14743,M17115,M20137,HI574160 NP_000579,AAC08706,AAK38378,EAW62354,AAH66272,AAH66273,AAH66274,AAH66275,AAH66276,AAH69472,AAA59146,AAA35725,AAA59147,P08700,Q6NZ78,Q6NZ79,ADQ32937,CBX47569 Hs.694 IL-3|MCGF|MGC79398|MGC79399|MULTI-CSF P-cell stimulating factor|P-cell-stimulating factor|hematopoietic growth factor|interleukin 3|interleukin-3|mast cell growth factor|mast-cell growth factor|multilineage-colony-stimulating factor|multipotential colony-stimulating factor protein-coding 1353267 IL31 interleukin 31 IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM] 19281909,18926762,18802341,18678344,18439099,17900679,17487427,17030248,16461143,16461142,15925362,15184896,12477932,19889120,18839421,19920145,20190140,20410259,20163453,21057749 386653 NM_001014336,AC048338,CH471054,CS456685,AY499343,BC132998,BC133000,HC731045,HH829734,CS398406,CS399446,CS401255,CS720082,FB507079,FB753876,GM989492,GN088750 NP_001014358,EAW98310,CAL91842,AAS86448,AAI32999,AAI33001,Q6EBC2,CBL94048,CBX32717,CAL44872,CAL44939,CAL44950,CAP40193,CAT05434,CAV32859,CAX21673,CAX86999 Hs.569071 IL-31 interleukin-31 protein-coding 1344882 IL31RA interleukin 31 receptor A IL31RA is related to gp130 (IL6ST; MIM 600694), the common receptor subunit for IL6 (MIM 147620)-type cytokines. Oncostatin M receptor (OSMR; MIM 601743) and IL31RA form the heterodimeric receptor through which IL31 (MIM 609509) signals. Expression of IL31RA and OSMR mRNA is induced in activated monocytes, and both mRNAs are constitutively expressed in epithelial cells (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM] 1580863 11877449,18926762,18580959,16461143,15627637,15489334,15340161,15194700,15184896,14504285,12975309,12477932,19690585,19730683,20237496,20379614,20849534 133396 HC731049,NM_139017,AC008914,CH471123,AF106913,AF486620,AK297938,AY358117,AY358740,AY499339,AY499340,AY499341,AY499342,BC110490,GM989496,GN088754 CBL94050,NP_620586,EAW54930,EAW54931,EAW54932,EAW54933,EAW54934,AAL36452,AAM27958,BAG60254,AAQ88484,AAQ89100,AAS86444,AAS86445,AAS86446,AAS86447,AAI10491,Q8NI17,CAX21675,CAX87001 Hs.55378 CRL|CRL3|GLM-R|GLMR|GPL|IL-31RA|MGC125346|PRO21384|hGLM-R GP130 like receptor|IL-31 receptor subunit alpha|IL-31R subunit alpha|IL-31R-alpha|OTTHUMP00000195058|OTTHUMP00000221877|class I cytokine receptor|cytokine receptor-like 3|gp130-like monocyte receptor|gp130-like receptor|interleukin-31 receptor subunit alpha|soluble type I cytokine receptor CRL3|zcytoR17 protein-coding 1350575 IL32 interleukin 32 This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 20889550,20400971,19364659,19386602,19628777,19740314,19880327,20112365,20190143,20227751,20237496,20541181,20888796,20615213,1729377,19291698,19248119,19228941,19017495,18768856,18414668,18296636,18289868,18287021,17619821,16903774,16492735,16488976,16410314,16341674,15664165,15489334,12477932,9653642,16303761,20480520,20470879,20221440 9235 BM759359,BM822755,CR609549,CR612743,CR614804,EU339107,M59807,W57940,NM_001012718,NM_001012631,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636,AC108134,AY495334,CH471112,CS300610,AK296143,AK307158,AK310053,AY495331,AY495332,AY495333,BC009401,BC018782,BC105602,BF568456,BG748458,FJ985780 ACA50721,AAA36367,P24001,NP_001012736,NP_001012649,NP_004212,NP_001012651,NP_001012653,NP_001012652,NP_001012650,NP_001012654,AAS80146,AAS80147,AAS80148,EAW85405,EAW85406,EAW85407,EAW85408,EAW85409,EAW85410,EAW85411,EAW85412,CAK32274,BAG58883,AAS80143,AAS80144,AAS80145,AAH09401,AAH18782,AAI05603,ACS74769 Hs.943 IL-32alpha|IL-32beta|IL-32delta|IL-32gamma|NK4|TAIF|TAIFa|TAIFb|TAIFc|TAIFd IL-32|interleukin-32|interleukin-32 theta|natural killer cell transcript 4|natural killer cells protein 4|tumor necrosis factor alpha-inducing factor protein-coding 1322461 IL33 interleukin 33 20338108,20406635,20534741,20708824,20816195,19439663,19393621,19372185,19266498,19248109,19204726,19198610,19037964,18955562,18941187,18836528,18827826,18802081,18787100,18762778,18688256,18539196,18250453,17853410,17700564,17675461,17623648,20072851,20860503,20926795,20689058,16286016,19596270,19559631,15489334,15164053,12819012,12477932,10566975,19506243,17185418,16169070,19465481,19756962,19801525,19841166,19860791,19888696,19906013,19913053,19918048,20029461,20035719,20153038,20379614,20385815,20305685,19508382,20532808,20405148 90865 AI610794,DB477860,NM_001199640,NM_001199641,HQ641439,NM_033439,AL353741,CH471071,AB024518,AK295908,AK303943,AK313414,AL080211,AY905581,BC047085,BQ878541,CR407619 NP_001186569,NP_001186570,ADR77828,NP_254274,CAI16003,EAW58748,EAW58749,EAW58750,EAW58751,BAA75892,BAG58697,BAG64871,BAG36208,AAX86998,AAH47085,CAG28547,O95760 Hs.348390 C9orf26|DKFZp586H0523|DVS27|NF-HEV|NFEHEV|RP11-575C20.2 DVS27-related protein|IL-1F11|IL-33|interleukin-1 family member 11|interleukin-33|nuclear factor from high endothelial venules protein-coding 1602184 IL34 interleukin 34 Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM] 18467591,16713569,12477932,20504948 146433 AC106804,NM_152456,AC020763,CH471241,AK172744,AK307727,AK308799,AK314913,CR592247,CR615780,EU599219,EU636994,BC029804,AW292500,BQ709387,CD248375,CD515627,NM_001172771,NM_001172772 NP_689669,EAW51800,EAW51801,EAW51802,BAD18731,BAG37425,AAH29804,ACD13474,ACD13452,Q6ZMJ4,NP_001166242,NP_001166243 Hs.461214 C16orf77|IL-34|MGC34647 interleukin-34 protein-coding 1348134 IL3RA interleukin 3 receptor, alpha (low affinity) The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. [provided by RefSeq] 1580863 12943658,12604332,12504125,12477932,12384414,12351411,12044522,11207369,11120855,11034417,10515868,9574547,9278420,8948019,8943237,8649415,8599840,8213838,8100720,7957082,7887951,7796808,7651724,14500898,10477722,1833064,17474147,19281803,18555589,18547720,18047539,17522711,16007196,15988755,15795318,15489334,14671644,20673868,19257981,19454491,19614769,19730683,19762535,20452482,20888334 3563 AL683870,AY789109,BX119906,BX296563,BX901885,CH471074,D49410,AK290568,AW452270,BC035407,M74782,NM_002183 NP_002174,CAI39845,AAV40832,CAI41506,CAI39694,CAI39695,CAI95777,EAW98679,BAA08393,BAF83257,AAH35407,AAA59148,P26951,Q9UEH7,ABW03424 Hs.632790 CD123|IL3R|IL3RAY|IL3RX|IL3RY|MGC34174|hIL-3Ra CD123 antigen|IL-3 receptor subunit alpha|IL-3R subunit alpha|IL-3R-alpha|IL-3RA|interleukin-3 receptor subunit alpha protein-coding 736306 IL4 interleukin 4 The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 1580863,1358745,2317286,2317291,2317300,2317264,2317290,2317270,2317271,2317285,2317673,2317265,2317261,2317263,2317267,2307059,2317296,2317282,2317284 20620947,19552791,19575932,20367137,17576577,17566759,17563406,17548690,17541280,17540990,17536219,17530998,17524861,17523428,17460561,17454884,17451413,17444864,17433443,17428692,17420820,17405833,17389870,17389011,17388919,17379175,17371990,17369174,17355643,17327605,17311314,17309781,17303923,17303794,17299718,17295710,17291854,17284225,17257312,17237413,17222831,17213232,17209513,17208210,17207024,17203290,17177148,17159260,17152005,17148075,17143971,17141086,17133536,17121586,17117487,17097641,17063753,17015735,17015714,17014622,17006724,16987060,16973957,16950634,16938461,16931887,16930576,16916659,16914241,16877367,16867043,16864907,16810739,16759385,18568476,18568448,18566561,18558283,18547691,18538381,18533937,18522869,18497474,18485518,18455629,18454680,18448485,18441098,18439079,18433468,18425216,18422436,18418228,18410779,18403443,18396027,18389618,18385759,18371377,18351434,18342537,18322173,18310157,18295676,18294957,18286287,18276105,18273643,18273035,18263811,18251702,18243101,18239807,18230112,18211631,18210751,18206261,18204280,18202702,18179773,18179754,18174230,18165865,18156980,18088017,18064451,18058260,18056382,18042256,18031948,18008330,17968425,17961771,17938902,17937745,17916900,17916404,17914408,17908769,17889143,17882904,17855802,17851828,17714919,17703412,17678726,17662651,17656331,17655693,17653830,17644317,17640674,17640324,17631734,17627763,17623648,12121273,12115161,12107748,12105273,12102661,12089714,12082592,12072494,12066847,12063527,12039414,12030894,12020266,11994288,11980568,11968047,11960309,11953141,11950517,11930331,11922633,11920312,11907068,11897999,11897522,8151703,7963560,7806280,7695626,7664036,3257560,3016727,2535858,1993171,1946344,1932028,1609277,1569578,1567881,1567880,1511746,1400355,1197194,16547227,17151125,15215692,10853974,10710213,10623799,8764000,1346976,7589092,7523014,16429138,16375755,10714547,9799097,11881490,11872954,11842291,11841848,11811777,11786020,11777980,11728464,11704810,11678851,11587989,11528525,11502824,11496248,11466338,11396683,11350513,11320251,11316069,11316066,11315919,11298547,11294568,11258696,11258628,11233912,11167377,11149986,11122213,11035134,11023480,10753117,10473513,10438901,10219247,9856950,9334723,9130652,9130521,9113989,8603435,8602263,8516290,20112007,20506498,20533927,20713631,20719954,20808855,18574615,16750993,15869882,14522096,12124654,11886168,20304823,11418631,8266078,11676128,10725748,11971948,11967989,19594368,19578876,19573080,19559392,19555572,19544973,19544559,19536153,19527514,19515749,19508433,19505916,19497039,19495883,19479237,19470040,19421745,19419769,19409508,19408823,19382262,19375306,19372547,19351467,19347053,19336370,19332120,19279357,19264973,19263529,19262574,19261373,19258923,19254294,19251840,19249119,19247692,19222422,19200845,19193442,19190772,19185507,19169254,19168731,19131662,19131452,19129082,19126646,19122650,19117745,19116009,19074885,19066394,19058839,19058298,19050632,19028820,19019335,19008611,18974840,18974110,18971305,18971287,18955794,18941246,18936436,18931892,18927306,18924208,18834248,18818748,18781131,18776133,18716132,18696265,18694328,18688110,18682601,18676870,18676680,18674658,18662263,18651887,18641314,18636124,18635180,18633131,18632425,18629290,18628242,18626468,18625055,18624944,18610832,18610831,18599603,18597704,18596736,18593330,16750991,16720107,16707627,16702372,16690518,16681592,16640778,16601843,16596275,16574063,16573560,16551465,16547693,16544245,16522370,16520888,16511411,16492782,16487180,16466711,16461126,16449530,16427155,16403098,16388492,16387595,16380445,16343431,16315031,16313681,16313303,16301860,16289646,16249002,16232344,16230423,16215326,16195814,16193177,16190985,16184405,16166103,16164695,16100774,16091861,16083600,16083175,16053729,16046318,16044136,16043936,16034134,16004996,16002690,16001979,15970635,15969687,15951665,15941525,15932621,15919378,15904474,15900573,15900570,15885323,15883744,15825027,15816837,15811521,15778356,15755291,15733644,15723707,15714203,15713213,15695802,15687724,15679809,15678501,15676220,15661875,15660293,15660235,15644127,15627726,15596681,15592292,15591113,15570643,15528258,15527169,15501397,15489334,15474066,15373917,15367434,15361128,15322832,15298559,15297269,15292002,15274656,15241348,15213252,15210741,15191519,15187156,15178889,15177147,15170937,15166131,15163899,15128803,15123681,15122773,15100288,15087090,15086621,15084933,15063762,15057902,15051937,15042002,15041089,15021309,15014952,15013759,15007352,15004182,15001290,14986816,14983029,14767810,14764715,14746805,14729510,14725568,14697936,14697238,14693849,14692664,14688371,14681304,14675394,14654080,14652008,14634100,14634065,14610476,14583474,14568946,14561191,14551608,14530362,14523823,14499500,12973929,12944981,12940513,12911786,12902508,12900808,12897746,12884288,12877559,12851716,12813360,12753568,12748907,12738651,12715242,12700447,12694433,12689929,12687247,12687213,12667657,12663328,12660931,12626590,12613995,12600829,12595908,12587822,12578333,12574355,12552499,12542496,12525574,12517954,12515722,12513914,12509382,12508786,12508140,12504082,12479817,12477932,12470598,12442007,12441140,12435565,12426308,14503851,12420205,12402189,12368275,12366695,12363051,12358844,12220533,12207324,12165514,12162874,12161424,12144536,12133437,11877044,18394346,18614592,18708672,19141349,19164348,19170196,19332998,19370405,19385959,19426601,19437232,19521787,19566553,19586918,19586939,19625176,19657367,19682920,19683555,19692168,19698128,19699526,19706316,19707465,19718656,19718824,19721012,19726720,19735490,19753334,19762488,19772762,19773279,19773451,19799628,19804407,19811408,19817957,19818512,19835477,19840389,19845895,19857574,19860911,19862939,19878651,19882211,19892918,19910025,19915002,19933216,19938203,19948975,19959237,20003246,20010912,20016407,20027321,20030788,20039421,20049266,20053586,20056178,20059579,20082482,20093796,20100010,20128416,20139223,20145925,20147633,20177758,20192866,20213229,20217044,20219689,20222161,20237496,20299965,20305143,20332709,20349753,20364398,20394509,20395963,20403914,20413987,20416077,20418110,20424473,20442634,20444155,20452482,20453000,20459687,20485362,20503287,20517665,20525402,20530519,20140262,20349326,20568250,20703737,20711808,20716621,20811626,20839488,20852371,20880001,20921925,20942272,21048327,21054877,21061265,21067483,21071541,21086908,20814620,19541591,20524005,20859068,20970781,18579517,19913121,20406299,20536507,20565368,20580039,20603037,20603050,20618516,20628086,20644561,20673868,20736038 1358745,2317286,2317291,2317300,2317264,2317290,2317270,2317271,2317285,2317673,2317265,2317261,2317263,2317267,2307059,2317296,2317282,2317284 3565 NM_000589,NM_172348,AC004039,AF395008,AF465829,CH471062,CS255762,M23442,X06750,AB102862,AF043336,AM937235,BC066277,BC066278,BC067514,BC067515,BC070123,M13982,X81851,NG_023252,FJ807883,FB507239,HC679221,HH829894 NP_000580,NP_758858,AAK71324,EAW62322,EAW62323,CAJ75955,AAA59150,CAA29925,BAD89396,AAC03537,CAP72493,AAH66277,AAH67514,AAH67515,AAH70123,AAA59149,CAA57444,P05112,Q5FC01,Q6NWP0,Q6NZ77,Q9UPB9,ADD60204,CAV32874,CBL86566,CBX32734 Hs.73917 BCGF-1|BCGF1|BSF1|IL-4|MGC79402 B cell growth factor 1|B-cell stimulatory factor 1|BSF-1|B_cell stimulatory factor 1|binetrakin|interleukin-4|lymphocyte stimulatory factor 1|pitrakinra protein-coding 1312498 IL4I1 interleukin 4 induced 1 The protein encoded by this gene shares the limited similarity with L-amino acid oxidase, and contains the conserved key amino acid residues thought to be involved in catalysis and binding of the flavin adenine dinucleotide cofactor. The expression of this gene can be induced by interleukin 4 in B cells. Two alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq] 1580863 17356132,16029492,15489334,15340161,12975309,12477932,12446450,12031486,19436310,20683900 259307 AJ880388,AJ880389,AY358933,BC026103,BC064378,BC090852,BC131625,BQ672052,CR592016,CR622916,CR625444,DQ079587,DQ079588,DQ079589,NM_172374,NM_152899,AC011452,AC118342,AF293463,CH471177,AF293462,AJ880386,AJ880387,NG_021170 CAI54293,AAQ89292,AAH64378,AAH90852,AAI31626,AAZ32711,AAZ32712,AAZ32713,Q1WMJ3,Q96RQ9,NP_758962,NP_690863,AAK73363,EAW52574,EAW52575,AAK73362,CAI54291,CAI54292 Hs.574492 FIG1 Fig-1 protein|IL4-induced protein 1|L-amino-acid oxidase|LAAO|LAO|hFIG1|interleukin four induced 1 protein-coding 735615 IL4R interleukin 4 receptor This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by an alternate splice variant or by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Two transcript variants encoding different isoforms, a membrane-bound and a soluble form, have been found for this gene. [provided by RefSeq] 1358313,1580863,2317263,2317669,2317264,4890352,4889983,4889995,4889996,4890393,4890011,4889985,4890349,4890348,4890404,4890351,4890395,4890005,4890346,4890394,4890024,4890387,4890021,4890389,4890003,4890390,4890406,4889847,4890022,4890347,4889981,4142792 15194285,15170937,15161635,15122773,15057902,15021309,15007352,15007345,15005726,14984008,14745651,14615367,14523823,12973929,12960323,12940513,12900808,12897746,12871855,12753568,12748907,12743452,12594065,12558814,12508140,12477932,12459556,12454749,12442007,12422339,12420205,12401728,12242343,12207328,12171893,12133990,12133952,12115161,12100043,12082592,12047365,12047364,12020266,11991671,11922633,11811777,11801567,11786020,11773030,11714803,11709756,11678851,11544427,11528525,11513543,11491529,11354638,11285129,11233912,11164908,11035134,10856136,10809862,10677312,10652211,10590262,10493829,10421786,10390422,10369419,10358772,10341317,10233717,10219247,10201973,9761767,9697832,9670964,9620765,9545332,9515586,9392697,9373149,9190938,8954948,8916957,8910586,8891114,8804422,8624803,8609418,8599766,8266076,8222329,8125298,20140262,20568250,20703737,20716621,20811626,21054877,21061265,21070662,21071541,15298559,9070874,8124718,2307934,8266078,19594368,19590686,19573080,19559392,19555572,19548368,19544559,19527514,19515749,19508433,19505916,19479237,19470040,19447482,19421745,19420105,19414811,19408823,19382262,19332120,19279357,19264973,19263529,19258923,19131662,19117745,19109239,19074885,19028820,19019335,19011907,18974840,18957266,18936436,18931892,18927306,18849614,18818748,18813073,18809513,18781131,18774776,18773331,18715339,18691306,18676680,18674658,18636124,18633131,18632425,18628242,18625055,18610832,18610831,18576348,18547691,18538381,18448485,18433792,18425216,18389618,18263811,18179773,18095154,18031948,18006935,17988330,17901851,17900677,17889143,17823973,17714919,17703412,17688234,17627763,17600229,17586032,17548690,17536219,17523428,17444864,17420820,17362266,17315188,17303794,17291854,17284225,17258448,17257312,17209513,17201240,17179726,17170387,17152005,17143971,17121586,17115186,17091279,17083349,17045041,17006724,17001290,16961803,16950281,16938461,16917945,16914241,16867043,16842617,16757160,16750991,16699452,16681592,16646030,16640778,16625214,16613701,16600026,16551465,16538488,16503977,16403098,16387595,16313681,16313303,16280132,16264039,16226465,16189667,16184405,16100774,16046318,16024651,15981567,15969687,15842262,15737301,15733644,15712015,15661890,15660293,15566952,15564773,15526032,15521376,15497451,15479272,15367225,15361128,15356556,7775445,7721895,7538655,7518439,2278997,2114443,1679753,1617647,16169070,8816495,8101483,19170196,19531027,19625176,19641626,19657898,19674346,19683555,19692168,19729601,19739012,19773279,19773451,19783684,19819209,19862939,19863607,19956098,20002627,20040389,20072140,20085599,20128416,20163933,20176658,20213229,20219689,20237496,20298583,20299965,20378664,20394509,20416077,20417488,20424473,20444266,20452482,20453000,20459687,20484924,20503287,20517665,19860911,20729386,18243101,19913121,20536507,20603037,20603050,20628086,20654748,20673868 1358313,2317263,2317669,2317264,4890352,4889983,4889995,4889996,4890393,4890011,4889985,4890349,4890348,4890404,4890351,4890395,4890005,4890346,4890394,4890024,4890387,4890021,4890389,4890003,4890390,4890406,4889847,4890022,4889981,4142792 3566 NM_000418,NM_001008699,NG_012086,AC004525,AC106739,AF421855,AJ293647,AJ293648,AJ293649,AJ293650,AJ293651,AJ293652,AJ293653,AJ293654,CH471145,CS104810,AA838318,AK223591,AK303255,AK314863,BC110343,BC136365,BC151131,BX479288,CR616481,X52425 NP_000409,NP_001008699,AAC23495,AAL12163,CAC20445,CAC20446,CAC20447,CAC20448,CAC20449,CAC20450,CAC20451,CAC20452,EAW55750,CAJ01243,BAD97311,BAG64338,BAG37378,AAI36366,AAI51132,CAA36672,P24394,Q53EP8 Hs.513457 CD124|IL4RA IL-4 receptor subunit alpha|IL-4R subunit alpha|IL-4R-alpha|IL-4RA|OTTHUMP00000122506|interleukin-4 receptor alpha chain|interleukin-4 receptor subunit alpha protein-coding 730927 IL5 interleukin 5 (colony-stimulating factor, eosinophil) The protein encoded by this gene is a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. This cytokine is a main regulator of eosinopoiesis, eosinophil maturation and activation. The elevated production of this cytokine is reported to be related to asthma or hypereosinophilic syndromes. The receptor of this cytokine is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene, together with those for interleukin 4 (IL4), interleukin 13 (IL13), and CSF2, form a cytokine gene cluster on chromosome 5. This cytokine, IL4, and IL13 are found to be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq] 1580863,2307110,4890941,4890962,4890938,4890940,4890960,4890942,4890956,4890939,4890948,4145461,4890954,4890963,4890961,4889106,4890947 19050632,19019335,18996999,18925696,18849614,18844613,8483502,8438156,8419187,7721873,7534492,2824500,2823259,2563351,2361960,2037074,1833065,1732409,1698795,7957082,15735688,1495999,20523065,10477722,20568250,20952689,3024129,3498940,19578876,19573080,19533685,19527514,19486544,19419945,19379606,19360850,19336370,19299749,19258923,19247692,19222422,19200845,19180571,19168731,19152965,19131452,18818748,18772129,18712166,18687755,18676870,18633131,18519231,18395252,18383036,18273035,18206982,18056382,18028994,17845581,17703412,17690326,17623648,17620072,17620002,17581195,17567994,17517104,17362254,17015735,16922677,16879311,16596275,16556602,16449530,16243713,16236836,16036415,16001979,15964392,15951665,15935984,15845862,15842590,15826950,15826943,15805995,15802551,15713213,15549733,15534922,15528381,15489334,15367434,15271374,15155645,15007355,14634065,14630612,14581138,14564341,12915771,12910312,12851716,12771545,12759409,12581193,12575459,12534990,12525574,12477932,12444155,12393708,12366695,12354764,12202242,12097386,11897983,11877300,11842300,11830476,11763346,11101310,10973484,10880230,10753117,10417272,9136909,8892648,18686101,19141349,19198610,19478474,19698128,19773279,19773451,19840389,19845895,19860791,19914334,20237496,20332709,20403914,20418110,20452482,20453000,20503287,20943047,19913121,20530519,20628086,20673868 2307110,4890941,4890962,4890938,4890940,4890960,4890942,4890956,4890939,4890948,4145461,4890954,4890963,4890961,4889106,4890947 3567 NM_000879,AC116366,AF353265,CH471062,J02971,J03478,X12706,BC066279,BC066280,BC066281,BC066282,BC069137,DQ655974,X04688,X12705 NP_000870,AAK19759,EAW62331,AAA98620,AAA74469,CAA31211,AAH66282,CAA28390,CAA31210,P05113 Hs.2247 EDF|IL-5|TRF B cell differentiation factor I|B-cell differentiation factor I|T-cell replacing factor|eosinophil differentiation factor|interleukin-5 protein-coding 735921 IL5RA interleukin 5 receptor, alpha The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Six alternatively spliced transcript variants encoding three distinct isoforms have been reported. [provided by RefSeq] 1580863 1495999,17474147,1732409,19263529,19258923,19247692,19131662,19074885,19028820,18974840,18511572,18326494,18256354,17983872,17914408,17703412,17620072,17362254,17227823,16625214,16430207,16344560,16217591,12943658,12752323,12496276,12477932,12444155,12444154,12202242,12082592,11897983,11842302,11498591,11101310,10880230,10688814,9516124,9378992,8568239,10949031,10477722,20800603,20811626,8228251,7836416,7721873,1833065,1505961,1477296,1427903,7957082,19913121,20536507,20603037,20628086,20673868,19170670,19479237,19559392,19654410,19729601,20237496,20452482,20503287 3568 NM_000564,NM_175728,NM_175725,NM_175727,NM_175724,A24587,A26249,A26251,AC022002,AC024060,AY642135,CH471055,U18373,AB288089,AB288090,AK304256,BC027599,BI520196,DB229011,M75914,M96651,M96652,X61176,X61178,X62156,NM_175726 NP_783853,NP_000555,NP_783855,NP_783852,NP_783854,NP_783851,CAA01731,CAA01793,CAA01794,AAT45457,EAW63879,EAW63880,EAW63881,EAW63882,EAW63883,EAW63884,BAG49561,BAG49562,BAG65122,AAH27599,AAA36110,AAA59151,AAA59152,CAA43483,CAA43485,CAA44081,Q01344,Q14631,Q14632,Q8NHV7 Hs.68876 CD125|CDw125|HSIL5R3|IL5R|MGC26560 CD125 antigen|IL-5 receptor subunit alpha|IL-5R subunit alpha|IL-5R-alpha|IL-5RA|OTTHUMP00000115373|OTTHUMP00000206892|OTTHUMP00000206896|OTTHUMP00000206919|interleukin 5 receptor type 3|interleukin-5 receptor alpha chain|interleukin-5 receptor alpha subunit|interleukin-5 receptor subunit alpha protein-coding 1352582 IL6 interleukin 6 (interferon, beta 2) This gene encodes a cytokine that functions in inflammation and the maturation of B cells. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. [provided by RefSeq] 1580484,1580485,1580486,1580487,1580488,1580493,1580863,2307269,2306981,2307287,2307251,2307265,2307282,2306984,2307291,2307250,2307292,2307264,2307267,2307257,2307270,2307179,2307182,2307180,2307193,2307252,2307256,2307274,2307275,2307266,2307272,2307278,2307279,2307284,2308810,2307280,2307412,2307187,2307188,2307186,2307258,2307273,2307281,2307283,2307285,2307290,2307293,2307194,2307191,1601588,1601585,1601582,2317166,2317160,2317165,2317167,4143243,4143253,4142530,4143263,4143275,4143255,4143241,4143242,4143244,4143246,4143257,4143265,4143268,4143271,4143250,4143256,4140400,4143251,4143249,4143245,4143252,4143259,4143277,4143266,4142788 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1580484,1580485,1580486,1580487,1580488,1580493,2307269,2306981,2307287,2307251,2307265,2307282,2306984,2307291,2307250,2307292,2307264,2307267,2307257,2307270,2307179,2307182,2307180,2307193,2307252,2307256,2307274,2307275,2307266,2307272,2307278,2307279,2307284,2308810,2307280,2307412,2307188,2307258,2307273,2307281,2307283,2307285,2307290,2307293,2307194,2307191,1601588,1601585,1601582,2317160,2317165,2317167,4143243,4143253,4142530,4143263,4143275,4143255,4143241,4143242,4143244,4143246,4143257,4143265,4143268,4143271,4143250,4143256,4140400,4143251,4143249,4143245,4143252,4143259,4143277,4143266,4142788 3569 NM_000600,NG_011640,AC073072,AF372214,CH236948,CH471073,X04402,Y00081,AA721478,AK298013,AK298077,AK301141,BC015511,BT019748,BT019749,CR450296,CR590965,CR626263,M14584,M18403,M29150,M54894,S56892,X04403,X04430,X04602,A09363,CS352987 NP_000591,AAS07539,AAK48987,EAL24265,EAW93756,EAW93757,EAW93758,CAA27990,CAA68278,BAG60317,BAG60365,BAG62733,AAH15511,AAV38553,AAV38554,CAG29292,AAA52728,AAA52729,AAA59154,AAC41704,AAD13886,CAA27991,CAA28026,CAA28268,P05231,Q75MH2,Q8N6X1,CAA00839,ABM82389,ABM85565,CAL23031 Hs.654458 BSF2|HGF|HSF|IFNB2|IL-6 B cell stimulatory factor-2|B-cell differentiation factor|B-cell stimulatory factor 2|BSF-2|CDF|CTL differentiation factor|IFN-beta-2|OTTHUMP00000158544|OTTHUMP00000198486|OTTHUMP00000198490|hybridoma growth factor|interferon beta-2|interleukin BSF-2|interleukin-6 1643391,1643402 BW322_H,BMD2_H protein-coding 736525 IL6R interleukin 6 receptor Interleukin 6 (IL6) is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in immune response. The protein encoded by this gene is a subunit of the receptor complex for IL6. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1625433,1625431,1625434,1625435,1625441,1625444,1625429,1625430,729416,1625428,1625432,1580863 20438838,12643274,12748171,2261637,12633863,12829785,12832423,16034137,18719127,10510402,15100312,12372336,11884403,19573080,19567438,19527514,19505916,19503017,19495883,19480857,19453261,19420002,19406470,19336475,19280716,19258923,19124510,19088723,19026125,19019335,18980999,18971377,18853133,18852330,18818748,18784373,18781131,18676680,18543249,18538149,18508242,18490707,18464913,18439548,18276608,18065760,17984249,17908769,17903307,17898129,17703412,17671508,17652155,17619842,17570254,17519976,17357077,17346257,17313958,17310346,17160948,16973585,16912152,16899024,16817825,16794539,16731080,16710414,16557588,16372246,16270750,16127269,15895091,15837717,15816827,15641051,20823887,20839491,19422646,19713205,20600579,20140262,20568250,20727736,20800603,20811626,20856253,20951753,20974296,15579373,15562008,15561970,15489334,15456942,15306846,15297310,15284182,15213442,15166129,15063602,15041717,14718574,14592826,14557255,12917504,12857602,12789531,12748876,12574959,12553555,12553038,12477932,12472176,12461182,12445803,12419823,12414855,12412787,12079407,12008038,12002769,11017875,10982829,10785334,10462375,10066782,9927325,9373149,9169421,8467812,8428753,8265649,8125298,8056053,3136546,2788034,2529343,2157217,2112585,1889804,1872801,1381187,1281789,17151125,8450224,15857508,19913121,20551110,20599261,20628086,20661738,20673868,20463041,15625895,18320358,19170196,19277666,19396608,19625176,19633828,19665805,19671870,19692168,19733878,19773279,19773451,19790045,19877065,19914334,19926672,19966016,20017315,20026129,20031577,20083667,20145925,20157327,20159251,20197062,20237496,20379614,20452482,20453000,20484876,20503287,20698883 1625433,1625431,1625434,1625435,1625441,1625444,1625429,1625430,729416,1625428,1625432 3570 NM_000565,NM_181359,NG_012087,AF104230,AL162591,CH471121,CS068586,AK223582,AK293013,AK312730,BC035327,BC089410,BC132684,BC132686,BM911928,S72848,X12830,X58298,EF064723 NP_000556,NP_852004,CAH72853,EAW53199,EAW53200,EAW53201,CAI84624,BAD97302,BAF85702,BAG35601,AAH89410,AAI32685,AAI32687,AAC60635,CAA31312,CAA41231,P08887,ADR83189,ADR83368,ABK41906 Hs.709210 CD126|IL-6R-1|IL-6R-alpha|IL6RA|MGC104991 CD126 antigen|IL-6 receptor subunit alpha|IL-6R 1|IL-6R subunit alpha|IL-6RA|OTTHUMP00000217870|gp80|interleukin 6 receptor alpha subunit|interleukin-6 receptor subunit alpha|membrane glycoprotein 80 2314803 GLUCO119_H protein-coding 1343808 IL6RL1 interleukin 6 receptor-like 1 7579586,1889804 157916 NG_002785,AL161629,X79982 IL6RL1 pseudo 731409 IL6ST interleukin 6 signal transducer (gp130, oncostatin M receptor) The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggested a critical role of the gene encoding this protein in regulating myocyte apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1627571,1627572,1626687,1626706,1627046,1627568,1626686,1625428,1625432,737752,737751,1580863 20489211,15677447,15292206,12643274,12707266,14764690,2261637,8999038,8390097,12829785,17530315,10744750,12372336,19453261,19379608,19336475,19330911,19240061,19213859,19124510,19074885,19020503,18986700,18775332,18684959,18573283,18549508,18519587,18469182,18292582,18246092,18223637,18060032,17997171,17979974,17961593,17926108,17885560,17664290,17652155,17619842,17519976,17436251,17404609,17081983,17053039,17028186,16973585,16909117,16774741,16728717,16524883,16335952,16274960,16254248,16141642,15944400,15895091,15809742,15754404,15721840,10504396,10219240,10026196,9501088,9388212,9353320,9256256,9195977,9188471,9013873,8547494,8511589,8353278,7736792,2788034,1617725,9126968,20585009,20600579,20568250,15184896,15133123,15129430,15081423,14764685,14718574,14676217,14557255,14504285,12917504,12830005,12819039,12782602,12707269,12477932,12472176,12434062,12403768,12386808,12361954,12234945,12161539,12047380,12039911,12030375,11952536,11920233,11884403,11834704,11821958,11786531,11781191,11742534,11689697,11557047,11468294,11285233,11251120,11098061,10982829,10954742,10946280,10880057,10811661,10800945,10579793,19422646,19913121,20584990,20628086,20628624,16344560,16646038,11877042,16051226,18320358,19386761,19573080,19623024,19665497,19665805,19730683,19773279,19915009,20103703,20200229,20237496,20348091,20453842,20728947,20554759 1627571,1627572,1626687,1626706,1627046,1627568,1626686,1625428,1625432,737752,737751 3572 NM_002184,AC016596,CH471123,EF064722,U70617,AB015706,AB102801,AB102802,AB102804,AW015107,BC071555,BC117402,BC117404,BC143842,M57230,S80479,U58146,NM_175767,AC008914,AB102799,AB102800,AB102803,AC008857,AL049265,BQ013034,CR621148,DA863210,DA877322,NM_001190981,AB074172 NP_786943,NP_002175,EAW54936,EAW54937,EAW54938,ABK41905,BAA78112,BAD89392,BAD89393,BAD89395,AAI17403,AAI17405,AAA59155,AAB35921,AAB63010,O15281,P40189,Q13514,Q17RA0,Q5FC02,Q5FC04,Q5FC05,Q5FC03,Q5FC06,Q5FC07,BAD89390,BAD89391,BAD89394,NP_001177910,ADR83277 Hs.532082,Hs.706627 CD130|CDW130|CDw130|DKFZp564F053|GP130|GP130-RAPS|IL-6RB|IL6R-beta CD130 antigen|IL-6 receptor subunit beta|IL-6R subunit beta|IL-6R-beta|IL-6RB|IL6ST nirs variant 3|OTTHUMP00000122545|OTTHUMP00000221874|OTTHUMP00000221875|gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form|gp130 transducer chain|interleukin 6 signal transducer|interleukin receptor beta chain|interleukin-6 receptor subunit beta|interleukin-6 signal transducer|membrane glycoprotein 130|membrane glycoprotein gp130|oncostatin M receptor|oncostatin-M receptor subunit alpha protein-coding 1346615 IL6STP interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 7736792,15754404 3573 NG_002748,AC015922 IL6STP pseudo 737457 IL7 interleukin 7 The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. This cytokine is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. Knockout studies in mice suggested that this cytokine plays an essential role in lymphoid cell survival. [provided by RefSeq] 1580863 20465565,20815339,20673240,21048031,2643102,8266077,19432535,19366834,19299724,19279003,19258923,19248116,19240061,19230961,19155487,19141282,19092841,19008454,19002156,19001329,18949045,18441236,18431516,18401975,18390701,18322183,18289383,18158957,17956896,17913246,17909291,17894415,17703412,17665400,17656007,17635814,17584976,17524612,17438097,17373935,17328044,17296584,17284597,17110377,17053062,16923550,16709829,16626395,16344560,16322477,16284535,16162475,15993713,15964403,15911446,15598813,15489334,15353558,15247003,15226432,15133032,15048088,14978141,14607751,14601648,14530372,12882655,12847229,12816983,12792903,12742982,12477932,12441142,12433286,12427286,12149213,12072494,12027403,12010786,11929775,11927620,11858939,11672535,11564764,11447288,10850801,10390077,9561370,9493287,9475337,9407080,9373149,9215626,9200446,9010926,8862549,8840152,8473051,8125298,7769137,7686307,2786840,2329282,2320434,9158092,16967044,15630452,19913121,20386468,20628086,17205128,18976766,19147839,19675167,19714586,19770269,19796902,19847194,19864382,19889552,19904747,19923894,20035760,20089933,20131250,20167604,20190192,20190194,20200205,20226540,20237496,20503287,20546594,20067635,20505146,20382196,20595579,15028279 3574 AC083837,CH471068,M29053,AB102879,AB102880,AB102882,AB102883,AB102885,AB102893,AK226000,AK291538,NM_000880,AU136355,BC032487,BC047698,J04156,EF064721,GQ919059,CD013923,NM_001199886,NM_001199887,NM_001199888 NP_000871,EAW87060,EAW87061,EAW87062,AAC63047,BAD89408,BAD89409,BAD89411,BAD89412,BAD89414,BAD89422,BAF84227,AAH47698,AAA59156,P13232,Q5FBX5,Q5FBY3,Q5FBY5,Q5FBY6,Q5FBY8,Q5FBY9,ABK41904,ACX53627,NP_001186815,NP_001186816,NP_001186817 Hs.591873 IL-7 IL7 nirs variant 6|interleukin-7 protein-coding 1320295 IL7R interleukin 7 receptor The protein encoded by this gene is a receptor for interleukine 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukine 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in the V(D)J recombination during lymphocyte development. This protein is also found to control the accessibility of the TCR gamma locus by STAT5 and histone acetylation. Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes. The functional defects in this protein may be associated with the pathogenesis of the severe combined immunodeficiency (SCID). [provided by RefSeq] 1600151,1580863 9495344,8266077,9843216,19349467,19253027,19240061,19239367,17363735,17173927,17079288,17045841,16951331,16837861,16818678,16818676,16709829,16614257,16435014,16357322,16075257,16004964,15947093,15879083,15728501,15674389,14726805,14607751,12792903,12477932,12354940,12149213,11858939,11728342,11418668,11023514,10702271,10485656,10390077,9850848,9215624,8709637,7515933,2317865,2038316,1634235,1378163,16967044,20815339,20187771,20539016,21131424,20800603,20952689,20962850,20304824,19231135,19141282,19096522,18847371,18774388,18721276,18687755,18676680,18633131,18563381,18390743,18390701,18354419,18292507,18272905,18025189,17956896,17928869,17909291,17894415,17660817,17660816,17660530,17609371,17591854,17579041,17554260,17504502,17442928,20812848,15996891,19011158,19170196,19494261,19505916,19506219,19523791,19525953,19525955,19605492,19625176,19626041,19667968,19690616,19692168,19714586,19744146,19798683,19834503,19865102,19866484,19874827,19879194,19940860,20035760,20060740,20072139,20072142,20097866,20112030,20167604,20190194,20194581,20219786,20226540,20237496,20368992,20378664,20379614,20424473,20466416,7481769,7522165,7719938,8647212,17207965 1600151 3575 NM_002185,NG_009567,AC112204,AF043123,AF043129,AY449709,CH471119,AA485865,AF373204,AK301220,AK315251,AL713738,BC020717,BC067537,BC067538,BC067539,BC067540,BC069999,FJ529208,M29696,GN344075 NP_002176,AAC83204,AAR08908,EAW55924,EAW55925,BAG62793,BAG37673,AAH20717,AAH67537,AAH67538,AAH67539,AAH67540,AAH69999,ACL80333,AAA59157,P16871,ADQ31999,CAY55973 Hs.591742,Hs.635723 CD127|CDW127|IL-7R-alpha|IL7RA|ILRA CD127 antigen|IL-7 receptor subunit alpha|IL-7R subunit alpha|IL-7RA|OTTHUMP00000221223|interleukin 7 receptor alpha chain|interleukin 7 receptor isoform H5-6|interleukin-7 receptor subunit alpha protein-coding 1345686 IL8 interleukin 8 The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. [provided by RefSeq] 1580863 2664463,2663993,2659722,2655583,2648569,2648135,2555418,2523801,2456256,2212672,2200751,2184886,2182630,2170450,2145175,2005614,1988949,1895676,1673289,1639201,1391327,1281554,16934308,11226151,16697675,16375755,17197385,16273337,15481145,12089333,12021366,8995686,17077296,12370346,11509627,15133028,15494311,12364441,12359770,12239630,12225945,12223528,12195386,12187073,12186913,12186702,12169272,12169092,12165085,12164325,12163591,12151344,12151316,12150710,12149127,12139952,12133438,12126643,12123753,12117995,12117969,12117926,12117737,12115500,12101072,12100025,12096927,12096924,12093676,12091490,12090473,12081586,12067976,12060853,12056817,12055326,12055238,12039947,12720537,12707271,12702497,12662377,12660426,12654834,12654635,12653788,12646250,12637525,12634636,12633940,12632066,12628493,12626597,12615831,12594058,12594001,12586630,12584113,12576442,12573991,12565901,12548717,12547728,12543081,12533683,12530093,12529421,12524080,12520365,12513912,12502445,12496258,12485855,12480084,12477932,12453441,12415593,12410798,12393171,12391099,12388959,12388718,12384994,12382118,12366401,18615482,18609140,18607537,18599499,18593988,18571457,18568476,18566434,18563170,18550579,18549840,18547996,18545091,18542040,18536738,18524891,18523665,18523031,18515987,18512730,18511707,18506929,18502748,18502145,18501560,18487355,18487223,18486623,18479302,18474653,18469140,18467491,18463682,18458115,18457043,18448485,18441098,18426885,18424663,18416756,18413205,18406509,18397859,18395088,18391842,18391721,18385984,18380907,18370868,18363812,18322253,18314475,18314120,18310311,18307536,18305316,18301299,18299272,18284424,18283335,18282421,18276095,18275043,18274637,18273643,18266131,18264801,18260266,18259970,18258920,18252863,18252714,18251157,18249366,18235016,18234802,18211687,18206243,18617617,17513150,17498967,17498253,17494793,17488320,17471497,17466952,17462092,17458901,17456336,17444864,17433258,17420005,17400536,17388919,17380888,17356794,17355643,17351514,17346315,17336597,17327408,17314689,17309748,17307204,17307163,17304101,17296422,17277102,17268170,17257314,17244794,17240051,17222831,17220369,17215524,17211588,17207890,17207568,17204468,17203209,17202379,17189320,17174061,17141246,17141217,17124436,17115422,17078003,17075576,17061983,17035306,17024463,17022986,17020928,17020755,17008880,16996240,16990258,16978071,16973972,16959787,16939660,16937534,16937502,16928771,16927373,16926411,16897191,16890267,16873245,16864908,16864907,16846747,16825597,16824064,18192685,18191274,18190463,18184679,18182303,18164040,18156286,18090907,18086816,18086782,18086557,18080864,18079209,18074095,18073500,18065201,18060802,18057554,18054497,18031543,18028768,18025101,18023202,18019737,17997161,17974147,17953379,17949231,17947704,17944600,17936667,17931612,17914409,17908789,17908769,17883593,17869651,17854923,17854143,17850672,17848618,17845205,17805211,17802898,17786963,17767856,17761353,17761179,17725646,17720627,17710424,17709599,17709521,17707405,17703412,17681858,17680645,17671716,17671691,17667842,17639289,17638896,17630697,17624583,17621625,17620090,17618838,17617741,17599774,17592301,17581316,17581194,17565687,17550933,17543146,17540779,17538964,17517062,17513455,16322472,16317381,16313297,16299055,16293707,16293628,16289597,16284368,16280123,16270354,16251427,16251188,16240219,16220540,16204411,16202743,16197369,16195815,16195477,16185356,16168518,16166417,16164755,16134994,16125276,16110031,16107886,16107255,16101867,16098254,16098041,16096323,16088182,16085794,16052590,16039610,16038986,16038881,16029496,16007706,16004996,15989802,15987860,15979992,15976326,15976103,15972644,15962221,15945132,15917409,15914533,15902922,15897801,15894298,16820307,16806015,16797773,16795034,16794530,16793206,16788380,16777061,16775170,16769764,16757060,16720107,16719905,16702372,16698420,16687414,16679918,16679868,16635219,16632517,16620395,16618781,16581825,16573784,16554734,16552751,16552338,16547804,16547413,16545602,16541418,16525644,16503988,16499908,16498082,16491014,16487026,16429233,16411061,16406804,16403098,16394009,16387844,16373669,16365152,15489334,15489227,15469436,15454487,15453805,15385484,15379213,15364108,15358661,15356575,15356171,15342208,15337758,15331599,15321998,15321994,15302608,15300588,15297389,15292066,15280372,15280021,15273081,15271933,15265021,15222686,15220553,15218164,15214047,15209388,15208668,15208657,15203565,15203561,15196572,15194816,15181190,15178703,15178568,15169673,15158775,15152368,15146413,15143062,15120188,15102084,15096327,15085176,15079071,15077296,15072962,15069060,15063730,15057743,15047831,15039334,15021975,15001458,14977935,14767470,14756945,14730209,14729508,14725568,14718619,14714557,14711052,14688120,14676125,14675394,14672330,14669337,14657869,14645117,14641180,14634584,14634582,14630611,14625302,14623984,14604894,14578856,14550286,14530367,14500479,14500470,14500465,13129857,12960242,12034575,12033786,12027404,11999552,11989790,11978786,11973337,11966578,11964077,11960393,11956621,11950481,11911801,11910304,11896938,11888846,11884459,11884401,11876744,11868823,11855786,11854210,11814358,11784713,11756416,11328384,11160671,11083887,11069235,11023497,10985253,10985244,10982368,10929056,10775602,10707023,10620615,10491366,10376933,10368283,10361232,10343098,9921412,9828130,9659156,9510190,9464567,9378998,9363947,9323208,9141135,8702798,8663179,8662698,8631339,8626516,8081002,8077676,7695626,7673721,3480540,3322281,3279957,3260265,3223947,3057503,2953813,2681204,18763295,18710930,18703508,18691435,18690522,18689272,18679168,18678662,18678243,18676870,18676680,18671849,18667484,18665932,18662984,18650551,18644894,18635816,18635170,18633131,18628251,18628242,18623207,19506726,19505916,19494510,19474090,19470239,19467703,19454705,19448676,19427781,19410569,19404719,19390575,19383348,19377236,19376162,19369450,19364277,19363120,19360326,19359602,19358850,19357773,19357230,19349617,19348790,19347053,19345795,19343203,19339032,19338485,19336370,19303321,19300393,19286927,19272692,19267370,19258923,19247692,19246943,19246914,19239421,19238444,19238009,19234105,19233564,19232500,19229069,19203362,19201759,19189859,19185507,19184985,19180796,19176759,19170075,19162161,19158563,19157552,19156359,19147919,19136823,19120897,19118103,19112107,19109405,19109168,19103522,19096229,19086996,19086264,19077731,19074885,19074641,19066394,19064995,19055487,19053024,19047751,19046427,19035451,19029276,19028451,19026125,19021203,19019335,19015376,19013788,19013427,19012493,19010917,19009622,18992148,18990769,18985541,18977990,18974369,18942752,18936229,18926718,18854173,18850010,18837094,18830271,18827892,18824549,18818748,18800145,18799285,18799095,18789871,18786178,18785913,18780829,18772138,12952969,12933891,12919697,12909591,12902511,12901801,12898448,12898436,12876073,12871882,12870115,12857601,12855659,12850808,12849706,12839942,12839933,12820969,12818188,12802400,12797546,12792476,12782302,12777373,12748173,12748056,12744776,12738388,12729795,12727029,15866212,15862344,15854776,15845864,15845476,15845475,15831558,15828019,15805227,15803062,15784717,15760676,15760459,15746434,15731050,15710978,15708897,15701651,15679580,15667946,15664665,15661856,15659384,15652492,15652404,15650394,15650393,15641067,15630732,15630185,15627645,15615716,15613411,15609321,15607368,15607204,15598788,15591054,15585673,15585560,15583145,15579481,15579377,15579374,15569594,15564333,15556942,15542429,15541716,15534087,15531763,15529362,15528384,15521010,15514971,15498828,15496610,19328242,20591742,20704821,21033124,20568250,20715983,20811626,20839488,20884746,20942272,21037509,21037537,21042230,19751561,20441409,20540976,20634942,20711410,21058913,21048327,21061265,18657231,20039880,20298300,20400187,20410302,20523065,20379392,20483454,20562101,20607798,19514335,10881932,1840701,10880251,8381837,11483765,11877327,11564821,10820279,10734056,9551928,2007144,10823949,19622587,19596978,19573080,19527514,18953959,18953964,19913121,20218918,20485444,20540853,20546607,20564140,20571236,20574123,20621718,20628086,20628624,20631636,20644561,20673868,20709566,20799037,20733339,20102417,20501448,18577758,20952496,21179282,10764593,16862120,17416748,18240029,18315921,18637012,18673463,18796448,18983460,19170196,19254160,19285667,19325234,19333684,19346317,19350238,19372628,19376732,19401270,19423540,19426598,19436689,19446037,19460731,19460789,19484147,19496969,19506876,19527294,19535567,19556613,19561378,19570208,19570915,19578117,19588509,19591568,19597126,19597830,19608729,19617600,19625176,19646263,19661010,19661014,19667085,19668110,19668231,19674346,19681642,19688109,19692168,19692203,19694638,19699525,19714766,19719901,19720161,19726162,19726280,19732956,19733855,19734226,19734969,19747898,19755917,19760027,19773182,19773279,19773451,19777350,19786303,19787256,19789190,19794965,19799797,19801670,19805069,19816813,19819266,19819989,19834107,19835476,19837667,19838218,19842025,19852851,19855073,19858310,19874800,19887538,19890050,19898747,19904283,19906815,19914270,19929572,19932683,19948975,19950606,19956874,19994728,19995941,19996617,19996656,20004360,20005738,20008399,20015396,20026745,20037740,20038977,20044268,20056178,20061995,20084405,20103651,20106902,20107186,20118277,20127012,20148189,20150959,20162422,20166885,20172018,20181930,20185670,20194723,20198307,20206550,20207250,20217044,20222161,20227257,20237496,20300863,20306660,20363151,20363644,20369436,20380014,20384861,20384872,20399512,20400292,20405297,20406964,20418110,20431935,20437058,20438785,20444155,20452482,20453000,20463618,20470938,20473875,20486195,20487506,20488171,20503287,20540789,18070438,20190550,20194818,20378727,20465445,20483667,20510674,16207434,18646527,19567187,20187772,20595617,20595649,20626862,20630874,20872800,20889674,21048114,21060150,20636397,2834384,20592029,20598369,20698984 3576 NM_000584,AC112518,AF385628,CH471057,D14283,M28130,AJ227913,AK131067,AK311874,BC013615,BT007067,CR542151,CR594973,CR595357,CR600500,CR601533,CR601902,CR603686,CR619554,CR623683,CR623827,M17017,M26383,Y00787,Z11686,HC462818,HI519526 NP_000575,EAX05687,EAX05688,EAX05689,BAA03245,AAA59158,BAG34815,AAH13615,AAP35730,CAG46948,AAK60276,AAA35611,AAA36323,CAA68742,CAA77745,P10145,ABM92181,ABM84653,AAA74722,CBK51144,CBX54344 Hs.624 CXCL8|GCP-1|GCP1|LECT|LUCT|LYNAP|MDNCF|MONAP|NAF|NAP-1|NAP1 C-X-C motif chemokine 8|OTTHUMP00000199825|T cell chemotactic factor|T-cell chemotactic factor|beta-thromboglobulin-like protein|chemokine (C-X-C motif) ligand 8|emoctakin|granulocyte chemotactic protein 1|interleukin-8|lymphocyte-derived neutrophil-activating factor|monocyte-derived neutrophil chemotactic factor|monocyte-derived neutrophil-activating peptide|neutrophil-activating peptide 1|small inducible cytokine subfamily B, member 8 protein-coding 1353194 IL8RA interleukin 8 receptor, alpha The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq] 1580863 8486366,8384312,8316840,8195702,8077663,7929358,7868904,7829970,7650389,7527448,1427896,1379593,1303245,20811626,21037537,21042230,2834384,18577758,1840701,8381837,10734056,10725748,19401689,19151925,19118103,19019335,19012493,18818748,18676870,18676680,18667484,18059279,18025257,17996233,17876799,17672867,17604950,17596666,17361014,17360650,17296422,17295203,17207897,17204468,17169533,17026468,16987681,16950632,16897191,16679868,16500343,16411061,16406804,16205979,16098254,15946947,15902300,15815621,15793866,15772681,15764156,15641067,15618253,15598788,15579377,15556942,15545821,15489334,15454487,15292066,15265017,15133028,15028716,14713106,14688334,12870115,12651900,12628493,12576754,12535747,12477932,12442335,12239185,12077146,12055238,12002274,11397869,11196695,11007922,10843722,10593335,10570306,10368283,9843397,9692902,9260277,8903513,8702798,8662698,8500355,19913121,20628086,11564821,17786197,18240029,19423540,19505916,19527514,19573080,19585580,19625176,19681642,19692168,19735481,19773279,19773451,19890050,20016196,20016852,20044480,20089160,20237496,20406964,20438785,20452482,20453000,20630874,21048114 3577 AY651785,AY916762,AY916763,AY916764,AY916765,AY916766,AY916769,AY916772,AY916773,CH471063,L19592,U11870,X65858,AK298647,AK309632,AK312668,BC028221,BC072397,CA425329,CR541994,CR542029,CR617846,L19591,U11871,NM_000634,NG_011814,AB032728,AB032729,AB032730,AB032731,AB032732,AC097483 AAT46689,AAY21512,AAY21513,AAY21514,AAY21515,AAY21516,AAY21519,AAY21522,AAY21523,EAW70590,AAA59160,AAA64378,CAA46688,BAG60821,BAG35550,AAH28221,AAH72397,CAG46791,CAG46826,AAB59436,AAA64379,P25024,Q6LCZ9,ABM82644,ABM85821,NP_000625,BAA92290,BAA92291,BAA92292,BAA92293,BAA92294,AAX93212 Hs.194778 C-C|C-C-CKR-1|CD128|CD181|CDw128a|CKR-1|CMKAR1|CXCR1|IL8R1|IL8RA|IL8RBA C-X-C chemokine receptor type 1|CXC-R1|CXCR-1|IL-8 receptor type 1|IL-8R A|high affinity interleukin-8 receptor A|interleukin 8 receptor, alpha|interleukin-8 receptor type 1|interleukin-8 receptor type A protein-coding 735299 IL8RB interleukin 8 receptor, beta The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq] 1580863 20429924,12633567,12628493,12620646,12606476,12496258,12477932,12453441,12442335,12239185,12176324,12164325,11818437,11751889,11524231,11435493,11397869,11278485,11196695,11170396,11138777,11023990,11007922,10943863,10881932,10734056,10688807,10593335,9843397,9692902,9651375,9464567,9260277,9079638,9058825,8940121,8702798,8662698,8626516,8550564,8384312,8316840,8294449,8195702,8194768,8036519,7929358,7829970,7512557,1891716,1840701,1427896,1379593,1303245,20140262,20568250,20802378,21037537,21042230,20519647,20818377,2834384,18577758,10438939,10725748,9725262,10878382,19573080,19435811,19401689,19258923,19155217,19151925,19147552,19118103,19067586,19057948,19035451,19026125,19012493,19010874,18852457,18780829,18755694,18676870,18633131,18555777,18307412,18292390,18244953,18208820,18199703,18025257,17996233,17949231,17939034,17709521,17703412,17672867,17630697,17604950,17435771,17360650,17295203,17272812,17204468,17142783,17003486,16990258,16987681,16897191,16793206,16702372,16679868,16411061,16406804,16272353,16260092,16098254,16086366,15946947,15793866,15772681,15630732,15626158,15618253,15598788,15545821,15489334,15479720,15454487,15364949,15358660,15265017,15063762,15028716,15004234,14967163,14713106,12975484,12888558,10820279,12870115,19913121,20485444,20628086,20673868,15452121,16344560,18240029,18462836,19170196,19423540,19435808,19549892,19585580,19750480,19773279,19887480,19890050,19904283,20005738,20016196,20016852,20044480,20056178,20070156,20089160,20237496,20406964,20438785,20452482,20453000,20468071,20503287,20540789,20580690,20630874,20505188 3579 AAA15417,AAB24742 NM_001557,AB032733,AB032734,AC124768,AY714242,CH471063,M99412,U11866,U11869,AK290906,AK312664,BC037961,L19593,M73969,M94582,U11872,U11873,U11874,U11875,U11876,U11877,U11878,AJ710879,DA670033,DA674925,NM_001168298,HI519532 NP_001548,BAA92295,BAA92296,AAY24026,AAT97985,EAW70589,AAC14460,AAB60656,BAF83595,BAG35546,AAH37961,AAB59437,AAA83148,AAA36108,AAA64380,AAA64381,AAA64382,AAA64383,AAA64384,AAA64385,AAA64386,AAA15417,AAB24742,P25025,Q53PC4,Q6LCZ7,ABM84587,ABM86597,NP_001161770,CBX54347 Hs.846,Hs.724268 CD182|CDw128b|CMKAR2|CXCR2|IL8R2|IL8RA|IL8RB C-X-C chemokine receptor type 2|CXC-R2|CXCR-2|CXCR2 gene for IL8 receptor type B|GRO/MGSA receptor|IL-8 receptor type 2|IL-8R B|OTTHUMP00000207450|OTTHUMP00000207451|OTTHUMP00000207452|OTTHUMP00000207453|OTTHUMP00000207454|OTTHUMP00000207455|chemokine (CXC) receptor 2|high affinity interleukin-8 receptor B|interleukin 8 receptor B|interleukin 8 receptor type 2|interleukin 8 receptor, beta|interleukin-8 receptor type B protein-coding 1349760 IL8RBP interleukin 8 receptor, beta pseudogene 12477932,8486366,1427896,1303245 3580 NR_002712,AC010136,M98335,X65859,BC033255 Hs.647858 CXCR2P|IL8RBP pseudo 735276 IL9 interleukin 9 The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq] 1580863 8379467,7666875,7544789,2508790,2129501,1971295,1908723,1903074,1901233,15735688,20020328,20568250,8516290,9371819,1680606,19573080,19559392,19536153,19387455,19263529,19258923,19131662,19028820,19005922,18974840,18633131,18349591,18339896,18298822,18032114,17703412,17541281,17517104,17083349,16763206,16611254,16322282,15713213,15699153,15621723,15489334,15372022,15289339,15128795,15007348,14722888,12789235,12646606,12594054,12588703,12482498,12477932,12082592,11937570,11842292,11588013,11115404,10464327,8756628,19913121,20595916,20628086,20673868,20674401,19729601,19773279,19845895,20159257,20237496,20306823,20332709,20452482,20503287,20498357 3578 AC002428,AC004763,AF361105,CH471062,M30135,M86593,BC066283,BC066284,BC066285,BC066286,BC066287,M30134,NM_000590,S63356,X17543 NP_000581,AAB66904,AAC17735,AAK26666,EAW62204,AAA35887,AAA59161,AAH66283,AAH66284,AAH66285,AAH66286,AAH66287,AAA36400,AAB19823,CAA35581,P15248,Q6NZ74,Q6NZ75 Hs.960 HP40|IL-9|P40 T-cell growth factor p40|cytokine P40|homolog of mouse T cell and mast cell growth factor 40|interleukin-9|p40 T-cell and mast cell growth factor|p40 cytokine protein-coding 735670 IL9R interleukin 9 receptor The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1376929,19401191,19258923,19139102,18829468,18633131,18339896,17919707,17703412,17083349,15621723,15591265,12477932,11868823,11588013,11418623,11160343,11039580,10657622,10655549,10642536,10486269,10329852,9535918,9002663,8756628,8666384,8193355,7718508,19692168,19723899,20424473,20452482,20503287,17207965,20595916,20673868 3581 NR_024033,NM_002186,AJ271736,AY071830,CH471247,L39064,S71420,BC025298,BC051337,M84747,S71404,NG_013238 NP_002177,CAB96817,AAL55435,EAW55884,EAW55885,EAW55886,AAC29513,AAD14081,AAA58679,AAB30844,Q01113,AAH51337,ADQ32195 Hs.406228 CD129 IL-9 receptor|IL-9R|OTTHUMP00000024331|interleukin-9 receptor protein-coding 1343712 IL9RP1 interleukin 9 receptor pseudogene 1 8666384 3582 1352385 IL9RP2 interleukin 9 receptor pseudogene 2 8666384 439945 NG_009864,AL713922,L39063 FLJ40100 pseudo 1342838 IL9RP3 interleukin 9 receptor pseudogene 3 8666384 729486 Z84723,NG_009865,L39062 pseudo 1352105 IL9RP4 interleukin 9 receptor pseudogene 4 8666384 3585 NG_002764,AF270566,AF270567,AP001005 pseudo 1348957 ILDR1 immunoglobulin-like domain containing receptor 1 737633,1580863 14702039,12477932,15489334,15381095,20379614 737633 286676 NM_001199799,NM_001199800,NM_175924,AC080098,CH471052,AK129974,AY134857,AY672837,AY672838,AY672839,BC044240 NP_001186728,NP_001186729,NP_787120,EAW79495,BAC85264,AAN10256,AAT77412,AAT77413,AAT77414,AAH44240,Q86SU0 Hs.98484 ILDR1alpha|ILDR1alpha'|ILDR1beta|MGC50831 ILDR1alpha'|OTTHUMP00000215510|immunoglobulin-like domain-containing receptor 1|immunoglobulin-like domain-containing receptor 1 alpha|immunoglobulin-like domain-containing receptor 1 alpha'|immunoglobulin-like domain-containing receptor 1 beta protein-coding 1345788 ILDR2 immunoglobulin-like domain containing receptor 2 19064610,16710414,19536175,20379614 387597 NM_199351,AL009182,CH471067,AF503509,XR_108301,XR_111960,XR_114930 NP_955383,CAI22773,EAW90779,AAQ07593,Q71H61,AAI48433 Hs.493589 C1orf32|RP4-782G3.2|dJ782G3.1 LISCH-like|immunoglobulin-like domain-containing receptor 2 protein-coding 1313940 ILF2 interleukin enhancer binding factor 2, 45kDa Nuclear factor of activated T-cells (NFAT) is a transcription factor required for T-cell expression of the interleukin 2 gene. NFAT binds to a sequence in the interleukin 2 gene enhancer known as the antigen receptor response element 2. In addition, NFAT can bind RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. NFAT is a heterodimer of 45 kDa and 90 kDa proteins, the smaller of which is the product of this gene. The encoded protein binds strongly to the 90 kDa protein and stimulates its ability to enhance gene expression. [provided by RefSeq] 1580863 20808282,7519613,10574923,9442054,11739746,11790298,18458058,16710414,16189514,16055709,15817156,15635413,15489334,14559993,12477932,12429849,11958450,11438540,11101529,10320367,9373149,8974006,8125298,11804788,16169070,17289661,17643375,18029348,19398578,19893574,20051514,20237496 3608 NM_004515,AL592150,AL713889,AY099265,CH471121,AK223326,AK302214,AK310615,AK313364,BC000382,BM800544,CR590138,CR590641,CR591072,CR591829,CR593106,CR593428,CR598787,CR599153,CR599497,CR601055,CR602645,CR603695,CR603919,CR606140,CR606686,CR607965,CR607979,CR608248,CR610317,CR610359,CR610897,CR611903,CR613973,CR613974,CR616375,CR616749,CR617374,CR618172,CR618428,CR618729,CR620610,CR621446,CR623082,CR623344,CR624512,U10323 NP_004506,CAI18796,CAI13610,CAI13611,CAI13612,AAM45141,EAW53285,EAW53286,BAD97046,BAG63571,BAG36164,AAH00382,AAA20993,Q12905,Q53FG3,ABM82304,ABM85481 Hs.75117 MGC8391|NF45|PRO3063 interleukin enhancer-binding factor 2|nuclear factor of activated T-cells 45 kDa|nuclear factor of activated T-cells, 45-kDa protein-coding 731671 ILF3 interleukin enhancer binding factor 3, 90kDa This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein was first discovered to be a subunit of the nuclear factor of activated T-cells (NFAT); a transcription factor required for T-cell expression of interleukin 2. NFAT is a heterodimer of 45 kDa and 90 kDa proteins, the larger of which is the product of this gene. These proteins have been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth; possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 7519613,10574923,9442054,11739746,8885239,18029348,10400669,19116932,18490444,18458058,18337511,18097023,18039850,17565699,17125513,17081983,16964243,16189514,16094384,16055709,15811368,15782174,15635413,15489334,15302935,15254228,14702039,14654356,14570900,12946349,12504009,12477932,12429849,11958450,11777942,11438540,11438536,11167023,11161820,10749851,10684936,10607473,10320367,9843854,9620363,9110174,8889548,8619474,1438302,16169070,11850402,19913121,20628086,17220478,17289661,17643375,19398578,19494010,19710015,20051514,20668518 3609 AF147209,AF167569,AF167570,AJ271744,AJ271745,AJ271746,AK000018,AK023222,AK025821,AK291205,AK291617,AK293170,AK294084,AL832528,AW576353,AY240961,BC001770,BC003086,BC014221,BC018633,BC048314,BC064836,AF141870,BM973331,CR457223,CR614313,CR618513,CR620107,DC320902,U10324,X98264,X98265,NM_004516,NM_153464,NM_001137673,NM_017620,AC011475,AF202445,AF320244,AF320247,AJ271741,CH471106,AB209062,AF007140,NM_012218 AAD37575,AAD33966,AAD51098,AAD51099,CAC01404,CAC01405,CAC01406,BAA90887,BAB15245,BAF83894,BAF84306,BAG56714,BAG57425,AAP68989,AAH48314,AAH64836,CAG33504,AAA20994,CAA66917,CAA66918,Q12906,Q59GP7,Q9NXX0,NP_036350,NP_004507,NP_703194,NP_001131145,NP_060090,AAF82685,AAF82686,AAF82687,AAK07424,AAK07425,CAC01121,CAC01122,CAC01123,CAC01124,EAW84131,EAW84132,EAW84133,EAW84134,EAW84135,EAW84136,EAW84137,BAD92299,AAC19152 Hs.465885 CBTF|DRBF|DRBP76|MMP4|MPHOSPH4|MPP4|NF-AT-90|NF110|NF90|NFAR|NFAR-1|NFAR2|TCP110|TCP80 M-phase phosphoprotein 4|double-stranded RNA-binding protein 76|double-stranded RNA-binding protein, 76 kD|dsRNA binding protein NFAR-2/MPP4|interleukin enhancer binding factor 3|interleukin enhancer-binding factor 3|nuclear factor associated with dsRNA|nuclear factor of activated T-cells 90 kDa|nuclear factor of activated T-cells, 90 kD|translational control protein 80 protein-coding 1346718 ILF3L interleukin enhancer binding factor 3-like 7519613 3610 732855 ILK integrin-linked kinase Transduction of extracellular matrix signals through integrins influences intracellular and extracellular functions, and appears to require interaction of integrin cytoplasmic domains with cellular proteins. Integrin-linked kinase (ILK), interacts with the cytoplasmic domain of beta-1 integrin. This gene encodes a serine/threonine protein kinase with 4 ankyrin-like repeats, which associates with the cytoplasmic domain of beta integrins and acts as a proximal receptor kinase regulating integrin-mediated signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 633110,2301729,2302091,2301734,2301731,2301733,2300344,1580863 19074270,10871859,19489119,19478459,19334037,19147542,19118218,19118217,19020711,18823942,18813944,18773488,18660489,18635968,18505933,18464290,18339839,18327965,18283114,18252715,18214046,18080083,18037995,17951996,17656471,17646580,17575101,17563721,17553790,17498677,17468516,17420447,17353931,17335036,17298394,17213807,17187779,17143519,17107957,16951248,16936772,16818815,16799642,16648553,16611685,16517730,16421303,16407822,15905178,15882985,15867245,15802621,15722199,15565145,15489334,15467740,15313908,15304053,15284246,15073119,15044083,14749128,14679308,14555513,14551191,14500673,12960424,12925691,12884912,12778079,12771992,12686550,12665801,12654898,12642872,12629168,12600888,12477932,12432066,12372433,12220642,12176337,12167643,12164932,12152651,12149249,12060675,12020826,12020426,11931630,11856758,11724787,11696434,11694518,11546794,11445557,11402068,11331582,11331308,11313365,11304546,11278835,11078733,10712922,10601309,10022929,9737788,9736715,9366252,9177792,8538749,11825911,16189514,20493167,16712791,20857141,16987993,19153670,19409087,19463178,19541809,19567202,19633364,19676046,19885839,20005845,20091050,20113654,20164304,20232298,20305688,20460506,20546345,20827300,20725137,20838384 633110,2301729,2302091,2301734,2301731,2301733,2300344 3611 NM_001014795,AC091564,AF244139,AJ404847,CH471064,AB209416,AK293474,AK296628,AK314843,BC001554,CB113885,CR407673,CR598952,CR599632,CR601713,CR604127,CR608758,CR611887,CR615121,CR619697,CR622983,CR624967,CR625625,CR625972,CR749220,U40282,NM_004517,NM_001014794,AJ277481 NP_001014795,AAF74449,CAB99253,EAW68688,EAW68689,EAW68690,BAD92653,BAH11516,BAH12404,AAH01554,CAG28601,NP_001014794,CAH18077,AAC16892,Q13418,Q59FP4,ABM82098,ABM85281,NP_004508,CAB94832 Hs.706355 DKFZp686F1765|ILK-2|P59 59 kDa serine/threonine-protein kinase|ILK-1|integrin-linked kinase-2|integrin-linked protein kinase|p59ILK protein-coding 731849 ILKAP integrin-linked kinase-associated serine/threonine phosphatase 2C The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq] 2300344,1580863 17081983,15815621,15489334,14990992,14702039,12477932,11230166,9857069,19019082,18635968,11331582 2300344 80895 AC016757,CH471063,AK001043,AK055417,AL136850,AY024365,BC006576,BC035746,BC050422,CR533533,CR602640,CR605643,CR617282,CR618491,FJ491380,FJ491381,NM_030768 ACE86849,ACE87536,NP_110395,AAY24336,EAW71145,EAW71146,BAG50851,CAB66784,AAK07736,AAH06576,CAG38564,ACL54845,ACL54846,Q9H0C8,ABM83726,ABM87046 Hs.92033 DKFZp434J2031|FLJ10181|MGC4846|PP2C-DELTA integrin-linked kinase-associated serine/threonine phosphatase 2C|protein phosphatase 2c|protein phosphatase 2c, delta isozyme protein-coding 1317496 ILVBL ilvB (bacterial acetolactate synthase)-like The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq] 1580863 12477932,8954801,16169070,20562859 10994 AC003956,AC004794,CH471106,AB209065,BC000109,BC011722,BC011761,BC126913,CR607363,CR608986,CR609878,CR615100,U61263,NM_006844 NP_006835,AAB94632,EAW84464,BAD92302,AAH00109,AAH11722,AAH11761,AAI26914,AAC50934,A1L0T0,Q59GP4 Hs.78880 209L8|AHAS|ILV2H|MGC1269|MGC19535 acetolactate synthase homolog|acetolactate synthase-like protein|ilvB-like protein protein-coding 1601796 IMAA SLC7A5 pseudogene 12477932,12009310 387254 NR_002594,AC005632,BC071656,BI758996,BM904244 Q9GIP4 Hs.448808,Hs.664952 IMAA|MMAA pseudo 1601711 IMMP1L IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM] 19913121,20628086,16554811,15814844,15489334,14702039,12477932 196294 NM_144981,AC108456,AL133295,CH471064,AK057788,AK310496,AK311611,BC023595 NP_659418,CAC39221,EAW68239,EAW68240,BAB71573,AAH23595,Q96LU5 Hs.502223 FLJ25059|IMP1|IMP1-LIKE mitochondrial inner membrane protease subunit 1 protein-coding 1350569 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 (IMMP1L; MIM 612323) and IMP2 are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM] 1580863 19546859,19401682,19734545,20379614,20398908,19058789,15814844,15489334,12853948,12690205,12477932,11254443,9847074,19240061,18029348,20877624 83943 NM_032549,AC003989,AC004142,AC005161,AC005166,AC006002,AC006392,AC006993,AC006997,AC073326,AC073980,AC092613,AC106866,CH236947,CH471070,AF359563,AK311968,BC008497 NP_115938,AAS07432,AAS02043,AAS07496,AAS07497,AAS07528,EAL24378,EAW83444,EAW83445,EAW83446,EAW83447,AAK52905,BAG34907,AAH08497,Q96T52 Hs.655722 IMP2|IMP2-LIKE IMP2 inner mitochondrial membrane protease-like|OTTHUMP00000207148|OTTHUMP00000207168|OTTHUMP00000207189|imp2 inner mitochondrial membrane protease-like (s. cerevisiae)|inner mitochondrial membrane peptidase 2 like|mitochondrial inner membrane protease subunit 2 protein-coding 1321729 IMMT inner membrane protein, mitochondrial (mitofilin) 1580863 19615732,14667819,16169070,17043677,9168817,17624330,16713569,15647377,15489334,15383276,12477932,12469345,11239393,10830953,9373149,8889549,8889548,8125298,8039717,1602151,14623284,20562859,20880836,19762472,20877624 10989 AK312251,AY232292,AY921637,BC002412,BC005983,BC027458,BC107419,BU729109,BX537369,CR456793,CR610445,CR749590,D21091,D21092,D21093,D21094,DC403234,L42572,NM_001100169,NM_001100170,AC009309,CH471053,AF148646,AK225780,AK296676,AK299014,AK299596,AK300017,AK304197,AK309004,NM_006839 BAG35183,AAP69987,AAX10024,AAH02412,AAH05983,AAH27458,AAI07420,CAD97612,CAG33074,CAH18389,BAA04653,BAA04654,BAA04655,BAA04656,AAA85336,Q05DN3,Q16891,Q3B7X4,ACE87159,ACE86478,NP_006830,NP_001093639,NP_001093640,EAW99462,EAW99463,AAF73126,BAG59273,BAG61094,BAG61528,BAG61832,BAG65077 Hs.148559 DKFZp779P1653|HMP|MGC111146|P87|P87/89|P89|PIG4|PIG52 OTTHUMP00000203279|OTTHUMP00000209559|OTTHUMP00000209560|cell proliferation-inducing gene 4/52 protein|cell proliferation-inducing protein 52|mitochondrial inner membrane protein|mitofilin|motor protein|proliferation-inducing gene 4 protein-coding 1345312 IMMTP inner membrane protein, mitochondrial (mitofilin) pseudogene 10830953 54045 NG_000919,AL773602 IMMTP pseudo 1315660 IMP3 IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq] 12655004,16381901,16344560,16189514,15635413,15489336,15489334,14702039,12477932,11790298,11543634,11256614,11230166,11076863,9373149,8889548,8125298,8012384,7566098,19426599,19449140,19467694,19620937,19672661,19695680,20382408,16712791 55272 DA375950,NM_018285,AB051628,AC105020,CH471136,Z55621,Z55622,AA365493,AK001830,AK223121,AL136913,AY050497,BC006487,BC011745,BC020557,BM970419,CB141947,CR590019,CR599893,CR601431,CR604682 NP_060755,BAB54955,EAW99244,BAA91929,BAD96841,CAB66847,AAL06639,AAH06487,AAH11745,Q96Q46,Q9NV31,CAL38460 Hs.513043 BRMS2|C15orf12|DKFZp586L0118|FLJ10968|MRPS4 OTTHUMP00000183524|U3 small nucleolar ribonucleoprotein protein IMP3|U3 snoRNP protein 3 homolog|U3 snoRNP protein IMP3|chromosome 15 open reading frame 12 protein-coding 1605599 IMP4 IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) IMP4 forms a ternary complex with IMP3 (MIM 612980) and MPP10 (MPHOSPHO10; MIM 605503) that interacts with U3 small nucleolar RNA (snoRNA), which is required for the early cleavage steps in pre-rRNA processing (Granneman et al., 2003 [PubMed 12655004]).[supplied by OMIM] 12655004,15815621,15635413,15489334,14565981,12477932,11790298,9110174,8619474 92856 NM_033416,AC132479,CH471263,AF054996,AK289878,AK292345,AK312808,AY364245,BC010042,CR593468,CR619192,CR621399 NP_219484,AAY24076,EAW55613,EAW55614,EAW55615,EAW55616,BAF82567,BAF85034,BAG35666,AAQ76804,AAH10042,Q3ZTT3,Q96G21,ABM87593,ABW03901 Hs.91579 BXDC4|MGC19606 OTTHUMP00000204519|OTTHUMP00000204520|OTTHUMP00000204521|OTTHUMP00000204523|U3 small nucleolar ribonucleoprotein protein IMP4|U3 snoRNP protein 4 homolog|U3 snoRNP protein IMP4|brix domain-containing protein 4 protein-coding 1606947 IMP5 intramembrane protease 5 19915575,20070850,16415175,15385547,15293277,12477932,12139484 162540 NM_175882,AC003662,AC217770,AC217771,AY169316,CH471233,BC022041,BC025401 AAO12541,NP_787078,EAW93564,AAH22041,AAH25401,Q8IUH8 Hs.144491 SPPL2c IMP-5|SPP-like 2C|signal peptide peptidase-like 2C protein-coding 737559 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 1300048,1580863 1377913,17068342,16344560,16189514,15489334,15342556,14699425,12477932,12176979,11959401,11911470,11281967,9339367,9210592,8718889,8068621,8068620,6253491,1332026,20153384,17207965,19447967 3612 AK312823,BC008381,BC009565,BP270804,CR606000,DB299262,DC375686,X66922,NM_005536,NM_001144878,AC090255,CH471068,Y11360,Y11361,Y11362,Y11363,Y11364,Y11365,Y11366,Y11367,AF042729,AI921211,AK297078,AK300750,NM_001144879,NG_015829 BAG35680,AAH08381,AAH09565,CAA47359,P29218,NP_001138351,NP_005527,NP_001138350,EAW87095,EAW87096,EAW87097,EAW87098,EAW87099,EAW87100,CAA72195,AAB97468,BAG59595,BAH13340,ADQ31614 Hs.656694 IMP|IMPA IMP 1|IMPase 1|inositol (myo)-1(or 4)-monophosphatase 1|inositol monophosphatase 1|inositol-1(or 4)-monophosphatase 1|lithium-sensitive myo-inositol monophosphatase A1 protein-coding 2293175 IMPA1P inositol(myo)-1(or 4)-monophosphatase 1 pseudogene 650747 NG_007612,AC090255 pseudo 1347157 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 1580863 9322233,17434096,17388992,17340635,17251911,17068342,15557493,15505643,15489334,14699425,14624008,12477932,11673796,10822344,8889548,10822345,20153384,11317223,20800640,16169070,19066393,19910543,20398908 3613 AF025880,AF025882,AF025884,AF025886,AF085628,AF085630,AF085632,AF157102,AP001269,AP001542,CH471113,CQ964657,EF444990,AF014398,AF200432,BC017176,BC031560,BT007061,CF134610,CR594604,CR612025,CR622241,CR623705,CR626000,NM_014214,BE219864,NG_028104 Q9UNV6,Q9UPE5,Q9UPE6,Q9UPE7,Q9UPE8,NP_055029,AAD22135,AAD22136,AAD22137,AAD22138,AAD22141,AAD22139,AAD22140,AAD40683,EAX01558,EAX01559,EAX01560,CAI30710,ACA06007,ACA06008,AAB70915,AAF07824,AAH17176,AAH31560,AAP35710,O14732,Q6PIP6,Q9UNV4,Q9UNV5 Hs.726124 IMP 2|IMPase 2|inosine monophosphatase 2|inositol monophosphatase 2|inositol monophosphatase 2 variant 1|inositol monophosphatase 2 variant 2|inositol-1(or 4)-monophosphatase 2|myo-inositol monophosphatase A2 protein-coding 1605062 IMPACT Impact homolog (mouse) 15937339,15871461,15752730,12477932,11244491,11116084,20237496,20648630 55364 NM_018439,AC007922,AF232229,CH471088,AB026264,AF208694,AK292533,AK312727,BC034016,BC036074,BP384088,CR605287,CR623681,GM959946,HB883439,HC940848 NP_060909,AAG23917,EAX01184,EAX01185,EAX01186,EAX01188,BAA95160,AAG35736,BAF85222,AAH34016,AAH36074,Q9P2X3,ABM84067,ABW03572,EAX01187,CAV24109,CBF65942,CBU90814 Hs.515317 MGC33718 imprinted and ancient gene protein homolog|protein IMPACT protein-coding 1603038 IMPAD1 inositol monophosphatase domain containing 1 18029348,14702039,12754519,12477932,18695242 54928 NM_017813,AC032027,CH471068,AI095394,AK000428,AK090988,AY032885,BC017797,BC067814 NP_060283,EAW86789,EAW86790,EAW86791,BAA91158,BAC03563,AAK52336,AAH17797,AAH67814,Q8N287,Q9NX62 Hs.438689 FLJ20421|IMPA3 IMP 3|IMPase 3|inositol monophosphatase 3|inositol monophosphatase domain-containing protein 1|inositol-1(or 4)-monophosphatase 3|myo-inositol monophosphatase A3 protein-coding 1322388 IMPDH1 IMP (inosine monophosphate) dehydrogenase 1 The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599608,1580863 7903306,1969416,18974094,18552984,18295591,17851563,17713475,17001353,16936083,16384941,16344560,16272056,16214101,16038673,15851576,15489334,15465556,15028279,14702039,12690205,12477932,11875049,9020170,8513324,7896827,7896275,7814030,7763314,7635473,2902093,1356621,11875050,20136638,20801516,1574589,20045992,20061166,20238028,20649757,20679962 1599608 3614 NM_183243,NM_001102605,NM_001142576,NM_000883,NM_001142575,NM_001142573,NM_001142574,NG_009194,AC010655,CH236947,CH471070,AK054640,AK054667,AK092452,AK122994,AK131294,AK293413,AK297943,BC033622,BX406207,CD014008,CD014010,CR603937,CR609676,CR625154,CR933672,DA566139,DA980797,DC299597,DC326380,J05272 NP_899066,NP_001096075,NP_001136048,NP_000874,NP_001136047,NP_001136045,NP_001136046,EAL24310,EAL24311,EAW83649,EAW83650,EAW83651,EAW83652,EAW83653,BAB70780,BAG51409,BAG53840,BAD18464,BAG56920,BAG60259,AAH33622,CAI45968,AAA36114,P20839,Q5H9Q6,Q6ZNB1 Hs.654401 DKFZp781N0678|IMPD|IMPD1|LCA11|RP10|sWSS2608 IMP (inosine monophosphate) dehydrogenase 1|IMP dehydrogenase 1|IMPD 1|IMPDH 1|IMPDH-I|OTTHUMP00000212385|OTTHUMP00000212386|OTTHUMP00000212390|inosine-5'-monophosphate dehydrogenase 1 protein-coding 1602426 IMPDH1P1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1 340499 NG_005146,AL354989 bA537H15.4 pseudo 1353295 IMPDH1P11 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11 12477932,7905856 727833 NG_001152,AC133565,L19709,BC127892 Hs.647352 IMPDH1|IMPDHL1 pseudo 2289751 IMPDH1P2 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2 402394 NG_005150,AC091807 pseudo 2289880 IMPDH1P3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3 136307 NG_005144,AC008265,AC025593,CH236950 pseudo 2289774 IMPDH1P4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4 139334 NG_005145,AL591587,AL022158 pseudo 2289873 IMPDH1P5 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5 340780 NG_005147,AL450306 pseudo 2289759 IMPDH1P6 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6 392267 NG_005149,AC021305 pseudo 2289772 IMPDH1P7 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7 391467 NG_005148,AC018735 pseudo 2289738 IMPDH1P8 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8 131961 NG_005143,AC090945 pseudo 2289745 IMPDH1P9 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9 441132 NG_005151,AL138725 pseudo 1353070 IMPDH2 IMP (inosine monophosphate) dehydrogenase 2 This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq] 1580863 20808934,7903306,1969416,17353931,19367581,18976158,18677108,18583139,18444945,18043470,17713475,17660802,17496727,15670151,15621150,15592455,15489334,12477932,11181995,10930578,10194364,10097070,9858805,9278455,8098009,7999076,7910933,7896827,7763314,2902093,8681386,20679962,15383276,1574589,16236267,16713569,19597826,19617864,19770842,19810816,20045992,20061166 3615 HI179056,NM_000884,NG_012091,AC137630,AY491522,AY491523,CH471055,L08114,L33842,L39210,AK293397,AY545560,BC006124,BC009236,BC012840,BC015567,J04208 CBX53836,NP_000875,AAR84630,AAR84631,EAW64946,EAW64947,AAA36113,AAA67054,AAB70699,BAH11500,AAS50155,AAH06124,AAH12840,AAH15567,AAA36112,P12268,Q6QE17,Q6RUP8,Q6RUP9,ABM84329,ABM87720 Hs.654400 IMPD2|IMPDH-II IMP (inosine monophosphate) dehydrogenase 2|IMP oxireductase 2|IMPD 2|IMPDH 2|OTTHUMP00000210556|inosine 5' phosphate dehydrogenase 2|inosine monophosphate dehydrogenase type II|inosine-5'-monophosphate dehydrogenase 2 protein-coding 1352807 IMPG1 interphotoreceptor matrix proteoglycan 1 1580863 12477932,10601738,9813076,9719680,9719369,14574404,9691169,16354621,15489334,14691150,20201926,20379614 3617 NM_001563,AF017776,AL356962,AL392166,CH471051,AF047492,BC117450,BC117452,CR749572 NP_001554,AAC68835,CAC36327,CAI41297,CAI41298,EAW48725,EAW48726,EAW48727,AAC03789,AAI17451,AAI17453,CAH18367,Q17R60,Q68D53,ADR83115 Hs.590893 GP147|IPM150|SPACR IPM-150|interphotoreceptor matrix proteoglycan 1|interphotoreceptor matrix proteoglycan of 150 kDa|sialoprotein associated with cones and rods protein-coding 1348827 IMPG2 interphotoreceptor matrix proteoglycan 2 Interphotoreceptor matrix proteoglycan-2 is part of an extracellular complex occupying the interface between photoreceptors and the retinal pigment epithelium in the fundus of the eye.[supplied by OMIM] 10702256,10542133,12477932,20673862 50939 NM_016247,AC068764,AC093008,AF271379,CH471052,AF157624,AF173155,AL713046,AW963481,BC144092 NP_057331,AAG49889,EAW79803,AAF13154,AAF06999,Q9BZV3,AAI56203,AAI56946 Hs.272380 IPM200|RP56|SPACRCAN IPM 200|interphotoreceptor matrix proteoglycan 2|interphotoreceptor matrix proteoglycan 200|interphotoreceptor matrix proteoglycan of 200 kDa|sialoprotein associated with cones and rods proteoglycan protein-coding 69037 INA internexin neuronal intermediate filament protein, alpha Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq] 1580863 20213320,20562859,16385451,7769995,19139367,19110265,18528283,16722980,15673434,15489334,15161649,12477932,10862698,9435256,8889548,7690783,2201753,15121898,12209604 9118 NM_032727,NG_012318,AL591408,CH471066,AB209785,AK293490,AK311620,AY034000,BC006359,BM679369,CR591335,S78296 NP_116116,CAI16744,EAW49653,EAW49654,BAD93022,BAG56977,AAK57543,AAH06359,AAB34482,Q16352,Q59EM6,Q96J72,ABM83659,ABM86906 Hs.500916 FLJ18662|FLJ57501|MGC12702|NEF5|NF-66|TXBP-1 66 kDa neurofilament protein|alpha-Inx|alpha-internexin|internexin, alpha|neurofilament 5 (66kD)|neurofilament-66, tax-binding protein protein-coding 1604056 INADL InaD-like (Drosophila) This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq] 9280290,19255144,19138174,18824598,17287269,17235357,16710414,16678097,16637659,16129888,15489334,15241471,12771187,12527193,12477932,12021270,11964389,11927608,11509564,11374908,10079096,9647694,8617505,11872753,18596123,19563532,20379614,16169070 10207 AK308665,BC021135,BC142661,BC142723,BC144135,CD356816,AL590374,CH471059,AB044807,AF397170,AJ001306,AJ224747,AJ224748,AK130492,AK293519,AK294187,AK304355,AK307713,AK308428,AL449143,NM_176877,AC097064,AL136458,AL353802 AAH21135,AAI42662,AAI42724,Q8NI35,CAI15923,CAI15925,CAH70416,CAH70418,CAH70420,EAX06593,EAX06594,EAX06595,EAX06596,BAB19683,AAM28433,CAA04666,CAA12112,CAA12113,BAG57001,BAG57503,BAG65197,NP_795352,CAI21733,CAI21734,CAI21737,CAI22258,CAI22260,CAI22262 Hs.478125 Cipp|FLJ26982|InaD-like|PATJ|hINADL OTTHUMP00000194786|PALS1-associated tight junction protein|PDZ domain protein|channel-interacting PDZ domain protein|inaD-like protein|inactivation no after-potential D-like protein|protein associated to tight junctions protein-coding 1604452 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 12477932,18756329,15159402,15800920,16148011 388324 NM_213726,AC004771,AY601906,AY601907,AY604176,BC119781,BC122873,NM_001167985,NM_001167986,NM_001167987 NP_998891,AAT09152,AAT09153,AAT36739,AAI19782,AAI22874,Q0VD86,NP_001161457,NP_001161458,NP_001161459 Hs.658926 HSD45|MGC148150|MGC148151 protein INCA1 protein-coding 1313235 INCENP inner centromere protein antigens 135/155kDa In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM] 1580863 18752045,17956729,17623812,17081983,16764853,16571674,16565220,16378098,15917996,15796717,15489334,15316025,15249581,14702039,12925766,12660166,12584241,12477932,11516652,11453556,11139336,10737800,10369859,9914378,8088460,18773538,20619651,9864353,14610074,16239925,1860899,17322402,11084331,16760428,17681274,19494039,19951914 3619 NM_001040694,NM_020238,AP002793,CH471076,AF282265,AK056195,AK307633,AK310714,AW839685,AY714053,BC032678,BC098576,BC111732,CR599315,CV569756 NP_001035784,NP_064623,EAW74003,EAW74004,EAW74005,AAF87584,BAG51645,AAU04398,AAH98576,Q9NQS7 Hs.142179 FLJ31633|MGC111393 binds and activates aurora-B and -C in vivo and in vitro|chromosomal passenger protein|inner centromere protein|inner centromere protein INCENP protein-coding 1350074 INE1 inactivation escape 1 (non-protein coding) X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene was identified because its transcription escapes X inactivation in females. [provided by RefSeq] 16344560,12477932,9618446,9244435 8552 NR_024616,AL513366,BC069671,BC069696,BC069772,BC112149,BC112175,DA439607,Y10696,NG_021353 CAI41709,CAA71702 Hs.657350 MGC97326|MGC97335|MGC97386|NCRNA00010 miscrna 1347419 INE2 inactivation escape 2 (non-protein coding) 9244435 8551 NR_002725,AC096510,Y10697 Hs.653287 NCRNA00011 miscrna 1343033 INF2 inverted formin, FH2 and WH2 domain containing Actin filaments grow only when actin monomers have access to the fast-growing barbed end of the filament. The geometry of the filament network depends on the actions of the ARP2/3 complex (MIM 604221) and members of the formin family, such as INF2. The ARP2/3 complex binds to the sides of preexisting filaments and nucleates filaments whose barbed ends are quickly blocked by capping proteins, producing brush-like structures, such as those found at the leading edges of crawling cells. In contrast, formins bind to the barbed ends of growing filaments and protect them from capping, creating long filaments that can be cross-linked into bundles, such as those found in actin cables of yeast. Interaction of formins with actin barbed ends occurs through the formin homology-2 (FH2) domain. FH2 domains accelerate filament nucleation, move with the barbed end as the filament grows, and block capping of the barbed end by proteins such as gelsolin (GSN; MIM 137350). The FH1 domain of formins binds to profilin (see MIM 176610) and accelerates elongation from the FH2-bound barbed ends (Bindschadler and McGrath, 2004 [PubMed 15466701]; Chhabra and Higgs, 2006 [PubMed 16818491]).[supplied by OMIM] 18029348,16818491,16344560,15466701,15203218,12665801,12477932,11181995,9373149,8125298,20023659 64423 NM_001031714,NM_032714,AL583722,CH471061,AF318379,AK025709,AK027105,AK225325,AK290083,AL832905,BC006173,BC008756,BC064828,BG335490,BG820892,BI489810,BQ961756,BU538960,BX248757,CD631414,CR612331,DA500952,DQ395338,NM_022489,DQ395339,DQ395340,DQ499599,NG_027684 NP_071934,NP_001026884,NP_116103,EAW81871,EAW81872,EAW81873,EAW81874,EAW81875,AAL55886,BAB15224,BAB15659,BAF82772,CAH10628,AAH06173,AAH08756,AAH64828,CAD66564,ABD59343,ABD59344,ABD59345,ABF54970,Q1HDL1,Q27J81,Q8WYS3,Q9H5G7,AAI72394 Hs.24956 C14orf151|C14orf173|DKFZp762A0214|FLJ22056|FSGS5|MGC13251|pp9484 HBEAG-binding protein 2 binding protein C|HBEBP2-binding protein C|OTTHUMP00000183468|inverted formin 2|inverted formin-2 protein-coding 1314890 ING1 inhibitor of growth family, member 1 This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1600155 8944021,10866301,19132896,19085961,18836436,18801192,18655775,18533182,18388957,17949449,17929852,17805569,17585055,17379210,16607280,16581770,16465410,16325212,16273637,15800978,15677627,15662138,15601862,15534913,15526165,15451426,15375504,15201991,14676120,14665632,14581367,12963728,12637159,12632089,12477932,12243754,12208736,12147653,12015309,12008079,11784859,11682605,11481424,11118440,10807544,10779953,10754201,10679922,10626813,10554029,9440695,9330636,9186514,9121449,9102209,11991811,16728974,18450387,18691180,19680556,20066899 1600155 3621 NM_198217,NM_198218,NM_198219,NM_005537,NG_012197,AB024403,AB024404,AB024405,AB037387,AF078837,AF167551,AL157820,CH471085,AA450055,AB024401,AB024402,AB031269,AB037594,AF001954,AF044076,AF078835,AF149721,AF149722,AF149723,AF181849,AF181850,AI016573,AJ310392,AK302353,BC018348,BC093942,BC093944,BF435293,BF510437,BG703874,HI179024,HI179026,HI179028,HI179030 NP_937860,NP_937861,NP_937862,NP_005528,BAA82888,BAA82889,BAA83462,BAA82890,BAB08101,BAB08102,BAB08103,AAG12175,AAG02578,AAG02579,CAI16972,CAI16973,CAI16974,CAI16975,EAX09127,EAX09128,EAX09129,EAX09130,EAX09131,BAA82886,BAA82887,BAA83496,BAB20992,AAB60879,AAC00501,AAG12174,AAF37422,AAF37423,AAF07920,AAF37421,AAF07921,CAC38067,BAG63679,AAH93942,AAH93944,Q5T9H0,Q9UK53,CBX53821,CBX53822,CBX53823,CBX53824 Hs.709738,Hs.46700 p24ING1c|p33|p33ING1|p33ING1b|p47|p47ING1a growth inhibitor ING1|growth inhibitory protein ING1|inhibitor of growth protein 1|tumor suppressor ING1 protein-coding 1348017 ING2 inhibitor of growth family, member 2 This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. [provided by RefSeq] 1580863 15243141,10072587,16387653,19437536,18998165,18951897,18513492,18451145,18334480,18160212,17929852,17469822,16782091,16755297,16488987,16465410,16024799,15761153,15748897,15489334,15356280,15005689,12859901,12477932,11784859,11481424,8889548,16728974,18029348,19730436,17207965,20676127 3622 AC107214,AF062747,CH471056,AB012853,AB196793,AF053537,AJ006851,AK294310,AK314000,BC030128,BM929984,NM_001564 NP_001555,AAG11396,EAX04689,EAX04690,BAA36419,BAF30476,AAG11395,CAC20567,BAH11731,BAG36712,AAH30128,Q9H160,ADQ32258 Hs.107153 ING1L|p33ING2 ING1Lp|inhibitor of growth 1-like protein|inhibitor of growth family, member 1-like|inhibitor of growth protein 2|p32 protein-coding 1321527 ING3 inhibitor of growth family, member 3 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq] 14966270,19401682,18081876,17634537,15647280,15489334,15196461,14702039,12963728,12853948,12545155,12477932,12080476,9847074,8889548,15604093,16387653,16728974,19935701 54556 NM_198267,AC004537,CH236947,CH471070,AF074968,AF161419,AF180298,AK000096,AK291905,NM_019071,AK293682,AY007790,BC009776,BC009777,BC010851,BC062634,BC073865,BC093091,BC093689,BC101609,BC143316,BU677936,BU684039,CA442734,CR598359,CR618547,CR621026,AL603623,NG_023322 NP_061944,NP_938008,AAQ93373,AAQ93374,EAW83546,EAW83547,EAW83548,EAW83549,AAG12172,AAF28979,AAQ13674,BAA90942,BAF84594,BAG57123,AAG23285,AAH09776,AAH09777,AAH10851,AAH62634,AAH73865,AAH93091,AAH93689,AAI01610,AAI43317,Q5GRH6,Q9NXR8,CAC48260,AAI46418,AAI53172 Hs.489811 Eaf4|FLJ20089|ING2|MEAF4|p47ING3 OTTHUMP00000211234|OTTHUMP00000211235|OTTHUMP00000211236|inhibitor of growth protein 3 protein-coding 1319738 ING4 inhibitor of growth family, member 4 This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq] 12750254,15029197,15251430,19250543,19034511,18789575,18779315,18775696,18399550,18394746,17848618,17517644,17325660,16973615,16920330,16916647,16096374,15935570,15897452,15882981,15528276,15489334,15342556,12477932,10931946,8889548,20707719,21056991,20705953,20501848,19775294,20211142,20716169,16387653,16728974,17157298,17363573,17954561,18381289,19430401,19571607,20053357,20381459 51147 AB197696,AB197697,AF063594,AF110645,AF156552,AK293169,AK303354,AK313621,AW515338,AW614868,BC007781,BC013038,BC095434,BG705367,BG718170,BM727982,BM922497,BP303219,BQ066994,CR596785,CR614525,CR616048,EF152349,EF152350,EF152351,EF152352,NM_001127582,NM_001127583,NM_001127584,NM_001127585,NM_001127586,AC125494,AC135892,CH471116,AB197695,NM_016162 BAF30478,BAF30479,AAG43153,AAD48585,AAL79773,BAG56713,BAG64415,AAH07781,AAH13038,AAH95434,ABO61139,ABO61140,ABO61141,ABO61142,Q0EF62,Q0EF63,Q4VBQ6,Q9UNL4,NP_057246,NP_001121054,NP_001121055,NP_001121056,NP_001121057,NP_001121058,EAW88762,EAW88763,EAW88764,EAW88765,EAW88766,EAW88767,EAW88768,EAW88769,EAW88770,EAW88771,EAW88772,EAW88773,BAF30477 Hs.524210 MGC12557|my036|p29ING4 OTTHUMP00000180576|brain my036 protein|candidate tumor suppressor p33 ING1 homolog|inhibitor of growth protein 4 protein-coding 1317373 ING5 inhibitor of growth family, member 5 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in TP53-dependent regulatory pathway. [provided by RefSeq] 1580863 20936779,12750254,18623064,17081983,16189514,15489334,15383276,14702039,12477932,8889548,16169070,16387653,16728974,17954561,18794358,19187766,20131318,20379614,17207965,20182888 84289 NM_032329,AC114730,AC133528,CH471063,AF189286,AI701412,AK074422,AK128322,AK289958,BC005370,BC039028,BC071899,BI962551,BQ187350,CR603493 NP_115705,AAX82019,AAY14921,EAW71287,EAW71288,EAW71289,AAL68979,BAB85078,BAF82647,AAH05370,AAH71899,Q53NU6,Q57Z54,Q8WYH8,ADQ32039 Hs.529172 FLJ23842|p28ING5 inhibitor of growth protein 5 protein-coding 1347843 INGX inhibitor of growth family, X-linked, pseudogene 1580863 15489334,15356280,12859901,12477932,10626813 27160 NR_002226,AL590763,AF149724,BC101123,BC101124,BC117297 AAF73156 Hs.721806 ING1-like|ING2|MGC119770|MGC119771 pseudo 736727 INHA inhibin, alpha The inhibin alpha subunit joins either the beta A or beta B subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumour-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. However, in prostate cancer, expression of the inhibin alpha-subunit gene was suppressed and was not detectable in poorly differentiated tumor cells. Furthermore, because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. [provided by RefSeq] 1580863,2290369,2290383,2290367,2290380,1579943,2301687,2301690,2290381,2290368,2290379,2290384,2290390 21115906,20704626,20716560,20734064,14596968,12857425,12721183,12697670,12682233,12679471,12660265,12651901,12587530,12576745,12493718,12477932,12456605,12385827,12093833,11818495,11344232,11134153,11098038,9506758,8885240,3758355,3754442,3345731,3035540,3016724,2770810,2767687,2575216,2036994,1448148,1423490,14667886,12456957,12324653,1310063,8267637,3267209,10320815,9166111,9032295,10865214,7890768,10746731,19574343,19542176,19436293,19412349,19391217,19363042,19324345,19195690,19079962,19064572,19003635,18852530,18826955,18630123,18460206,18423626,18413775,18397882,18249384,18091323,18047273,17933751,17847007,17603052,17457606,17272393,17074342,16989826,16778388,16758344,16723387,16670820,16650414,16621788,16423381,16396934,16390856,16195413,16161415,16048795,15950648,15816368,15745937,15578072,15562017,15551748,15489334,15451570,15374731,15236099,15227735,15214825,15205401,14967395,20634197,19107499,19589860,19615428,19752047,20188029,20209104 2290369,2290383,2290367,2290380,1579943,2301687,2301690,2290381,2290368,2290379,2290384,2290390 3623 BT006954,NM_002191,A14420,AC009955,CH471063,X04445,BC006391,BC039076,CR617999,M13144,M13981,AW025787 NP_002182,CAA01158,EAW70774,CAA28040,AAH06391,AAP35600,AAA59167,AAA59166,P05111,ABM92219,ABM84699 Hs.407506 A-inhibin subunit|inhibin alpha|inhibin alpha chain protein-coding 732688 INHBA inhibin, beta A The inhibin beta A subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumor-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta A subunit forms a homodimer, activin A, and also joins with a beta B subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. Finally, it has been shown that the beta A subunit mRNA is identical to the erythroid differentiation factor subunit mRNA and that only one gene for this mRNA exists in the human genome. [provided by RefSeq] 1580863,2313385,2313391,2301688 8125298,7887917,3758355,3754442,3345731,2767687,1777673,1646080,8015550,20036850,10932194,20704626,20734064,20926007,19574343,19383344,19308293,19240652,19196915,19158274,19141859,19128983,19095948,19091310,19086053,19064572,19028479,19027859,18854336,18768470,18719101,18695873,18608101,18600473,18535106,18460206,18450971,18423626,18413775,18381582,18359784,18353928,18319260,18299275,18166170,18156495,18089557,18077449,18001154,17968943,17954979,17929017,17909904,17681301,17478557,17462637,17436000,17384470,17204604,16988001,16820918,16643884,16423381,16344560,16081641,15950648,15737465,15580313,15489334,15451571,15374731,15292256,15205401,15188178,15123686,15123352,15094188,15070957,9884026,16198295,12324653,12456957,2575216,1310063,8267637,3267209,10320815,9166111,9032295,12702211,10865214,7890768,12213882,15031321,14993131,14738881,14671321,14671202,14613548,12877256,12853948,12721183,12697670,12690205,12660162,12651901,12587530,12524226,12477932,12414903,12399529,12161551,12149426,12088879,11969340,11459787,11344232,11266516,11134153,10859029,10746731,9872992,9373149,9202237,8955111,8397373,20610541,20628624,20634197,20634891,20203128,20660033,11948405,15451575,19200970,19257827,19324968,19386982,19539911,19615428,19641514,19733294,19885849,20028875,20043075,20194748,20200332,20226172,20379614,20309641,21102462 2313385,2313391,2301688 3624 NM_002192,A14422,AC005027,CH236951,CH471073,CS274788,X04447,X57578,X57579,AF218018,AK222742,AK290584,AU137531,BC007858,BX648811,D49743,J03634,M13436,X72498 NP_002183,CAA01159,AAQ96861,EAL24001,EAW94139,EAW94140,EAW94141,CAJ84003,CAA28041,CAA40805,CAA40806,AAG17260,BAD96462,BAF83273,AAH07858,CAI46003,BAA08577,AAA35787,AAA59168,CAA51163,P08476,Q53H39,Q5HYA2,Q9HBP0,ABM84084,ABM87451 Hs.583348 EDF|FRP FSH-releasing protein|Inhibin, beta-1|OTTHUMP00000207260|activin beta-A chain|erythroid differentiation factor|erythroid differentiation protein|follicle-stimulating hormone-releasing protein|inhibin beta A chain|inhibin beta-a|inhibin, beta A (activin A, activin AB alpha polypeptide) protein-coding 735395 INHBB inhibin, beta B The inhibin beta B subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumour-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta B subunit forms a homodimer, activin B, and also joins with the beta A subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. [provided by RefSeq] 1580863 12543931,12493718,12477932,12414903,12032389,11344232,11266516,11134153,9202237,3754442,3345731,2767687,2739657,2364091,1646080,20149358,20734064,3122219,12456957,2575216,10320815,12419948,12790766,19198021,19064572,18927237,18826955,18593767,18555227,18423626,18413775,18381568,17991484,17914098,17761145,17681301,17666595,17628551,17525068,17376219,17272393,16989826,16935389,16758344,16728349,16670820,16650820,16650414,16423381,16195413,16048795,16024538,15910540,15851553,15757857,15562017,15551748,15489334,15374731,15319819,15205401,15196700,15070953,12857425,12651901,12571168,20634197,20634891,12697670,19061996,19539911,19574343,19589860,20200332,20630504,20713036 3625 NM_002193,AC012363,CH471103,M31668,M31669,AA416873,AI659282,BC030029,BC127815,BF938974,CK430845,M13437,M31682 NP_002184,AAY14801,EAW95243,AAA59451,AAH30029,AAI27816,AAA59169,AAA59170,P09529,Q53T31,ABM81634 Hs.1735 MGC157939 Inhibin, beta-2|activin AB beta polypeptide|activin beta-B chain|inhibin beta B chain|inhibin beta-b protein-coding 733811 INHBC inhibin, beta C This gene encodes the beta C chain of inhibin, a member of the TGF-beta superfamily. This subunit forms heterodimers with beta A and beta B subunits. Inhibins and activins, also members of the TGF-beta superfamily, are hormones with opposing actions and are involved in hypothalamic, pituitary, and gonadal hormone secretion, as well as growth and differentiation of various cell types. [provided by RefSeq] 1580863 7826378,19095948,19064572,18413775,16627954,12960042,12651901,11237224,11134153,9428386,8838799,1646080,20458061,20734064,20884846,21063444,20012305,12477932 3626 NM_005538,AC022506,AC126614,CH471054,AK314849,BC020693,BC130324,BC130326 NP_005529,EAW97011,BAG37366,AAI30325,AAI30327,P55103 Hs.632722 IHBC activin beta-C chain|activin/inhibin beta c|inhibin beta C chain protein-coding 737308 INHBE inhibin, beta E INHBE is a member of the activin beta family (see INHBA; MIM 147290) that plays a role in pancreatic exocrine cell growth and proliferation (Hashimoto et al., 2006 [PubMed 16426570]).[supplied by OMIM] 737633,1580863 18413775,16426570,16303743,15489334,14702039,12477932,12242034,20734064,20012305,20033758 737633 83729 NM_031479,AC022506,CH471054,CQ783417,AF412024,AK075285,BC005161,BF305618 NP_113667,EAW97012,AAN03682,BAC11521,AAH05161,P58166,ACE87106,ACE86431,CAF86622 Hs.632713 MGC4638 activin beta E|activin beta-E chain|inhibin beta E chain protein-coding 1316407 INMT indolethylamine N-methyltransferase N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. [provided by RefSeq] 1580863 19913121,20628086,15489334,12853948,12477932,11322482,10552930,192352,16095048,16344560,18394749 11185 NM_006774,AACC02000087,AB041362,AC006022,AF128848,AF128846,AF128847,AK309519,AK313832,BC033813,BC103712,BC106902,BC106903,DA920005,NM_001199219 NP_006765,EAL24447,BAA94451,AAD04723,AAF18306,AAF18304,AAF18305,AAH33813,AAI03713,AAI06903,AAI06904,O95050,Q3MIB5,NP_001186148 Hs.632629 MGC125940|MGC125941 OTTHUMP00000202348|amine N-methyltransferase|aromatic alkylamine N-methyltransferase|arylamine N-methyltransferase|indolamine N-methyltransferase|indolethylamine N-methyltransferase|nicotine N-methyltransferase|thioester S-methyltransferase-like protein-coding 1607029 INO80 INO80 homolog (S. cerevisiae) INOC1 is the human homolog of S. cerevisiae Ino80, the catalytic ATPase subunit of the INO80 chromatin remodeling complex (Shen et al., 2000 [PubMed 10952318]; Bakshi et al., 2004 [PubMed 15207721]). INOC1 defines a subfamily of SWI2/SNF2 chromatin remodeling proteins; see SMARCA (MIM 600014) for background information.[supplied by OMIM] 20687897,16298340,18922472,18388905,18376411,17721549,17101442,16230350,15207721,14702039,12477932,10952318,10574462,20197409,20237820,20302916,20306291,20379614 54617 AC020661,AC021753,CH471125,AB033085,AK002176,AK024777,AK026050,AK057582,AK290371,AL137280,BC012578,BC046115,BC057299,BC068054,BC105993,BC144681,BC146785,BX350023,NM_017553,NG_017163 Q9NUK2,NP_060023,EAW92468,EAW92469,EAW92470,EAW92471,BAA86573,BAA92122,BAB14997,BAF83060,CAB70675,AAI46786,Q6N074,Q9H7A1,Q9ULG1 Hs.292949 INO80A|INOC1|hINO80 INO80 complex subunit A|homolog of yeast INO80|putative DNA helicase INO80 complex homolog 1 protein-coding 1347975 INO80B INO80 complex subunit B 1580863 15146197,12477932,16230350,15556297,15489334,9847074,16169070,19095771 83444 NM_031288,AC005041,CH471053,AB054538,AI978697,AK295889,AK295901,BC039617,BC050666,BC064425,CN260703,CR600070,CR625948 NP_112578,EAW99668,BAB21111,BAG58684,BAG58693,AAH50666,AAH64425,Q9C086 Hs.410786 HMGA1L4|HMGIYL4|IES2|PAP-1BP|PAPA-1|ZNHIT4|hIes2 IES2 homolog|INO80 complex subunit B|OTTHUMP00000202629|OTTHUMP00000202630|OTTHUMP00000202631|OTTHUMP00000202632|OTTHUMP00000202634|PAP (Pim-1 associated protein) associated protein 1|PAP-1 binding protein|PAP-1-associated protein 1|high mobility group AT-hook 1-like 4|high mobility group at-hook 1-like 4|zinc finger HIT domain-containing protein 4|zinc finger, HIT type 4 protein-coding 1320959 INO80C INO80 complex subunit C 737633 16368877,16341674,16230350,15489334,14702039,12477932,16169070,15960975 737633 125476 NM_194281,NM_001098817,AC007998,CH471088,AK095502,BC039404,BC048989,BF475320,BM758571,BQ887287,BY800049,CR623740,EC520842,AK300660 NP_919257,NP_001092287,EAX01357,EAX01358,BAC04560,AAH39404,Q6PI98,BAG62346 Hs.464903 C18orf37|FLJ38183|IES6|hIes6 IES6 homolog|INO80 complex subunit C protein-coding 1606537 INO80D INO80 complex subunit D 16344560,16230350,14702039,12477932,9373149,8125298,19553259 54891 BC011687,BC017290,BC136278,CR746991,CR933609,DB233201,NM_017759,AC007383,AC007679,AC092677,CH471063,AK000316,AK096585,AK225339,BC004193 AAH04193,AAH11687,AAH17290,AAI36279,Q53TQ3,NP_060229,AAX93069,EAW70374,EAW70375,BAA91079,BAG53330 Hs.445036 FLJ20309 INO80 complex subunit D|OTTHUMP00000206351 protein-coding 1605827 INO80E INO80 complex subunit E 16230350,15489334,14702039,12477932,17643375,19615732,17207965 283899 NM_173618,AC093512,CH471238,CQ783841,AK074033,AK074137,AK075133,AK130409,AK309498,AY189289,BC035693,BC047712,CR591225,CR592457,CR592458,CR596568,CR596765,CR597344,CR617333,CR618846,CR620186,CR620749,CR626828 NP_775889,EAW79953,EAW79954,EAW79955,EAW79956,EAW79957,EAW79958,EAW79959,CAF86887,BAB84859,BAB84963,BAC11424,AAO86733,AAH47712,Q6Y2K3,Q8NBZ0,Q8TEI7,Q8TET7,ADQ33092 Hs.434864 CCDC95|FLJ00079|FLJ90652 INO80 complex subunit E|coiled-coil domain containing 95|coiled-coil domain-containing protein 95 protein-coding 1314476 INPP1 inositol polyphosphate-1-phosphatase This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq] 1580863 14702039,8390685,19086053,19058789,17570738,16787706,16344560,15489334,14671192,14574455,12477932,11901356,11812139,10780272,9682271,9599410,2225061,16169070 3628 NM_002194,NM_001128928,AC092178,AF141325,CH471058,AB451298,AI680695,AK093560,AW015766,BC015496,BC106006,BQ100772,CR456840,CR541707,CR600162,DA272809,L08488 NP_002185,NP_001122400,AAY24179,AAD46766,EAX10869,EAX10870,EAX10871,EAX10872,BAG70112,BAG52740,AAH15496,AAI06007,CAG33121,CAG46508,AAA36117,P49441,Q6IBG4 Hs.32309 MGC110984 IPP|IPPase|OTTHUMP00000205563|OTTHUMP00000205568|OTTHUMP00000205570|OTTHUMP00000205573|inositol polyphosphate 1-phosphatase protein-coding 1353464 INPP3 inositol polyphosphate-3-phosphatase 3629 68560 INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 68266,633135,1580863 12477932,11485317,10702694,10097090,9599410,9295334,9110986,7608176,19264973,18187694,15815621,15716355,15489334,15231748,14702039,18562305,20463662 68266,633135 3631 NM_004027,NM_001566,NM_001134224,NM_001134225,AC010134,CH471127,AF368319,AK057550,AK307823,BC005082,BC028361,CR596131,U26398,U96919,AB462500 NP_004018,NP_001557,NP_001127696,NP_001127697,AAX93230,EAX01904,EAX01905,EAX01906,EAX01907,EAX01908,EAX01909,EAX01910,AAK58870,AAH28361,AAB01068,AAB72150,Q96PE3,ABM86241 Hs.469386 INPP4|TVAS1 inositol polyphosphate 4-phosphatase type I|inositol polyphosphate-4-phosphatase, type 1|type I inositol-3,4-bisphosphate 4-phosphatase protein-coding 734292 INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq] 633135,1580863 9295334,19647222,17846126,15489334,15342556,12477932,10097090,9599410,7608176,21070662,20379614 633135 8821 NM_003866,AC093860,AC093885,AC108060,AC108077,AC138657,AC139720,CH471056,AK298118,AK300891,AK302936,AY753912,BC005273,BC005274,BC017924,NM_001101669,BC072447,BC110918,BC133005,BC144255,BP360389,BX649090,U96922 NP_001095139,NP_003857,EAX05081,BAH12726,BAH13368,BAH13850,AAV28485,AAH05273,AAH17924,AAH72447,AAI10919,AAI33006,AAB72153,O15327,Q5XLE7,Q9BS68 Hs.658245 MGC132014 OTTHUMP00000220065|OTTHUMP00000220066|OTTHUMP00000220068|OTTHUMP00000220069|OTTHUMP00000220070|OTTHUMP00000220071|inositol polyphosphate 4-phosphatase II; 4-phosphatase II|inositol polyphosphate 4-phosphatase type II|inositol polyphosphate-4-phosphatase, type ii, 105kd|type II inositol-3,4-bisphosphate 4-phosphatase protein-coding 1314631 INPP5A inositol polyphosphate-5-phosphatase, 40kDa The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq] 1580863 8006039,15489334,15164054,14996095,12477932,11210186,9398266,8999861,8889548,8808294,8013665,20876729 3632 BC096281,BC117515,BM467443,BM666428,CB960907,CR597084,X77567,Z31695,AF184215,AL356603,AL392043,AL451069,CH471211,AF273055,BC052265,BC062300,BC096280,NM_005539 AAH96280,AAH96281,AAI17516,CAA54676,CAA83500,Q14642,Q149S6,Q4VAR4,Q5T1B5,Q86V83,Q8N6C1,Q9C055,NP_005530,AAK13252,CAI40940,CAI40941,CAI40942,CAI40944,CAI39941,CAI39942,CAI39944,CAI39945,CAI39947,CAI14120,CAI14121,CAI14123,EAW61306,EAW61307,AAM44458,AAH52265,AAH62300 Hs.523360,Hs.715308 5PTASE|DKFZp434A1721|MGC116947|MGC116949 43 kDa inositol polyphosphate 5-phophatase|CTCL tumor antigen HD-CL-02|InsP3 5-phosphatase|OTTHUMP00000020777|inositol trisphosphate-5-phosphatase, 40kD|type I inositol-1,4,5-trisphosphate 5-phophatase|type I inositol-1,4,5-trisphosphate 5-phosphatase protein-coding 1342739 INPP5B inositol polyphosphate-5-phosphatase, 75kDa Cellular calcium signaling is controlled by the production of inositol phosphates (IPs) by phospholipase C in response to extracellular signals. The IP signaling molecules are inactivated by a family of inositol polyphosphate-5-phosphatases (5-phosphatases). This gene encodes the type II 5-phosphatase. The protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 1718960,7721860,17956944,16710414,16344560,15761153,15489334,14702039,12477932,8530037,8529643,8125013,2542294,19536138,19700499,18029348,20808825 3633 NM_005540,AJ251881,AL603790,AL929472,BX296560,CH471059,AK022846,AK093261,AK295062,AK310824,AL833055,BC042529,BC058932,BC062317,DA125087,M74161 NP_005531,CAH69926,CAH69927,CAH69929,CAH70076,CAH70079,EAX07307,EAX07308,EAX07309,EAX07310,EAX07311,BAG51126,BAG58111,CAH56301,AAH42529,AAH58932,AAA79207,P32019,CAH69928,CAH70080 Hs.449942 5PTase|MGC65156|MGC71303 75 kDa inositol polyphosphate-5-phosphatase|OTTHUMP00000004727|OTTHUMP00000004728|phosphoinositide 5-phosphatase|type II inositol-1,4,5-trisphosphate 5-phosphatase protein-coding 1350841 INPP5C inositol polyphosphate-5-phosphatase, 120kDa 3634 1348251 INPP5D inositol polyphosphate-5-phosphatase, 145kDa This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. Overall, the protein functions as a negative regulator of myeliod cell proliferation and survival. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 2302068,1580863 8769125,12029088,10350061,17657219,17371259,16818760,16682172,16619039,16428799,16406061,16038794,15953601,15944314,15735664,15604218,15492005,15470047,15184070,15166241,14993273,14702039,14688341,12882960,12829595,12477932,12421919,12393695,12217402,12024011,11724799,11714803,11692111,11443118,11402314,11071635,10900203,10875931,10822173,10748054,10733577,10704825,10660611,10229804,9918857,9531585,9422771,9341117,9110989,9108392,9058707,8874179,8723348,8654924,8643691,11287610,10194451,11247302,15644415,19041431,19473701,19641183,19682241,19839650,19890474,20041145,20331378,20379614,9148918,19913121,20628086 2302068 3635 NM_001017915,NM_005541,AC013726,AC108511,AC114729,AC141929,CH471063,AK023492,BC027960,BC062985,BC099920,BC113580,BC113582,BE247227,BM800110,U50040,U50041,U53470,U57650,U84400,X98429,AC233715,AK298651,AK309644 NP_001017915,NP_005532,EAW71029,EAW71030,EAW71031,AAH62985,AAH99920,AAI13581,AAI13583,AAC50453,AAC50454,AAD00081,AAB53573,AAB49680,CAA67071,Q92835,BAG60823 Hs.601911,Hs.262886 MGC104855|MGC142140|MGC142142|SHIP|SHIP1|SIP-145|hp51CN OTTHUMP00000165069|OTTHUMP00000165070|OTTHUMP00000165071|OTTHUMP00000165072|OTTHUMP00000203442|SH2 containing inositol phosphatase, isoform b|SH2 domain-containing inositol phosphatase 1|SH2 domain-containing inositol-5'-phosphatase 1|SHIP-1|inositol polyphosphate-5-phosphatase of 145 kDa|p150Ship|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1|signaling inositol polyphosphate 5 phosphatase SIP-145 protein-coding 1343997 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4, 5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. [provided by RefSeq] 1580863 10764818,15324660,12477932,10806194,15465916,19668215,19668216,21068128 56623 NM_019892,AL592301,CH471090,AF187891,AL832846,BC028032,BC110356,BE314630,U45974,NG_016126 NP_063945,CAI13947,EAW88233,EAW88234,EAW88235,AAF81404,AAH28032,AAI10357,AAB03215,Q2YD81,Q9NRR6 Hs.120998 CORS1|JBTS1|MGC117201|MORMS|PPI5PIV 72 kDa inositol polyphosphate 5-phosphatase|phosphatidylinositol (4,5) bisphosphate 5-phosphatase|phosphatidylinositol polyphosphate 5-phosphatase type IV|phosphatidylinositol-4,5-bisphosphate 5-phosphatase protein-coding 1314013 INPP5F inositol polyphosphate-5-phosphatase F The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants have been observed, but most of them are not thought to be protein-coding. [provided by RefSeq] 18281508,15146197,14702039,12805586,12477932,11274189,10231032,16385451,19875726 22876 NM_014937,NR_003251,NR_003252,AC027672,AL133461,AL158014,CH471066,AB023183,AF109361,AF113227,AI492073,AK091448,AK123633,AK307758,AL137528,BC052367,BC067820,BC082755,BC111493,BF476150,CD642547,CN362016,H15412 NP_055752,CAH72973,CAH72974,CAI16957,CAI16958,EAW49379,EAW49380,EAW49381,BAA76810,AAQ13509,AAG39298,BAG52363,CAB70792,AAH52367,AAH67820,AAH82755,AAI11494,Q5T993,Q5W135,Q9Y2H2 Hs.369755 FLJ13081|KIAA0966|MGC131851|MGC59773|MSTP007|MSTPO47|SAC2|hSAC2 Sac domain-containing inositol phosphatase 2|inositol polyphosphate 5-phosphatase F|phosphatidylinositide phosphatase SAC2|sac domain-containing phosphoinositide 5-phosphatase 2 protein-coding 1349321 INPP5J inositol polyphosphate-5-phosphatase J 1580863 15489334,14702039,12477932,12536145,10593988,10591208,10023782,9847074 27124 NM_001002837,AC005005,CH471095,AK092859,AK095944,AK126610,AK293992,AK308921,AK309548,BC041652,BC109288,CR599279,CR604969,CR610046,CR611668,CR615040,CR615918,CR617561,CR617784,CR624482,CR625511,U45975 NP_001002837,AAD15618,EAW59936,EAW59937,EAW59938,EAW59939,EAW59940,BAG52616,BAC04657,BAC86611,BAG57356,AAI09289,AAB03216,Q15735 Hs.517549 INPP5|MGC129984|PIB5PA|PIPP OTTHUMP00000199393|inositol polyphosphate 5-phosphatase J|phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A|phosphatidylinositol 4,5-bisphosphate 5-phosphatase A protein-coding 1604357 INPP5K inositol polyphosphate-5-phosphatase K This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 18573875,16189514,12621583,12556481,12536145,12477932,8968500,8968499,11509665,10753883,16002321,17353931,18774950 51763 NM_016532,NM_130766,NM_001135642,AB036831,AC100748,CH471108,AB036829,AB036830,AK297955,AK303907,AK307293,AK312585,AK312844,BC004362,BG722885,BM510617,CR590219,CR596159,CR623148,U45973 NP_057616,NP_570122,NP_001129114,BAA92342,EAW90614,EAW90615,EAW90616,EAW90617,EAW90618,BAA92340,BAA92341,BAH12695,BAH14079,BAG35479,BAG35697,AAH04362,AAB03214,Q9BT40,ABM83741,ABM87060 Hs.632238 PPS|SKIP OTTHUMP00000198133|inositol polyphosphate 5-phosphatase K|skeletal muscle and kidney enriched inositol phosphatase|skeletal muscle and kidney-enriched inositol phosphatase protein-coding 68580 INPPL1 inositol polyphosphate phosphatase-like 1 The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq] 1626127,2312440,633161,2302068,2312442,737755,1580863 9824312,9660833,20530248,19895833,8530088,9367831,19065064,19033458,18991394,18692052,18660489,18061583,17893231,17672824,17671700,17557929,17314030,17219406,16842970,16804414,16302969,15777721,15735664,15668240,15557176,15492005,15316017,15220217,12690104,12522270,12504111,12477932,12370370,12235291,12147234,12086927,11739414,11349134,11238900,11158326,10789675,10610720,10494849,10194451,19477690,19518129,19765305,19825976,19839650,19880507,20114020,20114025,20236936,20453000,5668240,20654688 1626127,2312440,633161,2302068,2312442,737755 3636 NM_001567,AP000593,CH471076,BC140853,BG236320,CR591731,L24444,L36818,Y14385,NG_023253 NP_001558,EAW74854,EAW74855,AAI40854,AAA50503,AAA96658,CAA74743,O15357 Hs.523875 SHIP2 51C protein|INPPL-1|SH2 domain-containing inositol phosphatase 2|SH2 domain-containing inositol-5'-phosphatase 2|SHIP-2|inositol polyphosphate phosphatase-like protein 1|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 2|protein 51C protein-coding 731056 INS insulin After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into two chains (peptide A and peptide B) that are covalently linked via two disulfide bonds. Binding of this mature form of insulin to the insulin receptor (INSR) stimulates glucose uptake. A variety of mutant alleles with changes in the coding region have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq] 1580863,2313694,2311115,2298713,2311111,2311114,2311137,2311109,2311131,2311112,1625118,1625120,1625121,1625124,2317259,2317245,2317247,2317253,2317262,2317273,2317268,2317266,2317248,2317250,2317260,4142788 14986111,7556975,9388210,8452530,9773776,9092559,8702995,14739855,10604997,15194403,1184755,381941,14615391,15792832,11443198,16604263,11742412,8524413,3553851,12946932,7688386,11500939,12138094,17925406,15473891,12135947,11278339,3518947,14744991,12881524,9498508,9667398,19491387,19445897,19434426,19367319,19336408,19324891,19321446,19321436,19321435,19247282,19190820,19188609,19188433,19152242,19141582,19115062,19094425,19073967,19073905,19064572,19052261,19051206,19020323,19000992,19000139,18996102,18983503,18981553,18951876,18940880,18853485,18839133,18834984,15305767,15277396,15240646,15237706,15230641,15220214,15220197,15185208,15170498,15163889,15161800,15126243,15111508,15095040,15070567,15047631,15046555,15028719,14979729,14749349,14715866,14707040,14693412,14679083,14671204,14671189,14671163,14659752,14657411,14651526,14647005,14633852,14616883,14607844,14551916,14426955,6424111,6382002,6351842,6312455,6253909,6248962,6243748,5560404,5101771,4803504,4698555,4698553,4443293,4019786,3537011,3511099,3470784,2550426,2271664,2196279,2036420,1959628,1851182,1646635,1601997,1433291,1406615,503234,195962,15616007,15265780,6927840,12479880,12477932,12441313,12404181,12392301,12378388,12364457,12189018,12186542,12182905,12133430,12111440,12101177,12086926,12079889,12072386,12051853,12047362,12032154,12029093,12021212,11978629,11953210,11937112,11912547,11866509,11800057,11779865,11779231,11739440,11738155,11606170,11511079,11502799,11398136,11376336,11347740,11145591,11140838,11101842,10969839,10966857,10909971,10497219,10084601,9235985,9141561,8971927,8496180,8421693,8358440,7716547,7477119,7350438,7027261,19602055,20628762,20734064,20849903,20863361,20138117,20357430,20587420,20679359,17337306,17327454,17327422,17311896,17310371,17299081,17291451,17284223,17279313,17242212,17192483,17192475,17157312,17130532,17127405,17116217,17105729,17103462,17068290,17065334,17053071,17052889,17011566,17011062,16996478,16951936,16949073,16885156,16868061,16866381,16835468,16800793,16799400,16751187,16741735,16736556,16731859,16731532,16691379,16629714,16614815,16608900,16595598,16552513,16531418,16519889,16497805,16418171,16390390,16380501,16362283,16344925,16344718,16307231,16276008,16251897,16246845,16123374,16081366,16025839,16025255,16006430,15983206,15956745,15956217,15949705,15936461,15929679,15928253,15922332,15920061,15919610,15889096,15880482,15834700,15705917,15705595,15699505,15684637,15678496,15632182,15613433,15610006,15591776,15589123,15583859,15581831,15561961,15538935,15529622,15489334,15367890,15351621,18719673,18716398,18692115,18662362,18660489,18620562,18582564,18520331,18483566,18451997,18441389,18417529,18404969,18388898,18375961,18310307,18307789,18305020,18294642,18292987,18284601,18283260,18283256,18283245,18279373,18220656,18216377,18211635,18198311,18198306,18192540,18171712,18162506,18157793,18093308,18090240,18085551,18083784,18077505,18072146,18070774,18057381,18040865,18039812,18039179,18029348,18029081,17993259,17972051,17957153,17937736,17923791,17920639,17914103,17901401,17898179,17890489,17855560,17846745,17828388,17805200,17726611,17700581,17698984,17675047,17667841,17652220,17632545,17620332,17616349,17586504,17554260,17553505,17520407,17513702,17506723,17497031,17479246,17473382,17471492,17468256,17464100,17461431,17437081,17433504,17416760,17348446,17344504,17342078,17341563,12952878,12930990,12821730,12803245,12750767,12721156,12715715,12709672,12654724,12639765,12637980,12631734,12624089,12620428,12610512,12589110,12529491,21094141,20655470,19025443,19913121,20361993,20564319,20607677,20628086,20647273,20805278,19249902,20142200,20738396,20808760,20566319,10938588,12660731,13658959,15342556,17051221,19037607,19146426,19214176,19338578,19430480,19463742,19466592,19556358,19578600,19578796,19680231,19683528,19688775,19709092,19727662,19742322,19767753,19769745,19778377,19785038,19833889,19845278,19885595,19913026,19935854,19948072,19950226,20007936,20033399,20034470,20054344,20106974,20119675,20133622,20133841,20190549,20203524,20208155,20226046,20232313,20332111,20345871,20357092,20378605,20468064,20535137,7818556,9631292,20098959,20391195,19898946,21036154 2313694,2311115,2298713,2311111,2311114,2311137,2311109,2311131,2311112,1625118,1625120,1625121,1625124,2317259,2317245,2317247,2317253,2317262,2317273,2317268,2317266,2317248,2317250,2317260,4142788 3630 NM_000207,NG_007114,AC132217,AJ009655,AY138590,CH471158,J00265,L15440,M10039,V00565,AY899304,BC005255,BM510748,BT006808,X70508,BM510347,BP322143,NM_001185097,NM_001185098 NP_000198,CAA08766,AAN39451,EAX02488,EAX02489,AAA59172,AAA59179,AAA59173,CAA23828,AAW83741,AAH05255,AAP35454,CAA49913,P01308,ABM83966,ABM87282,NP_001172026,NP_001172027 Hs.272259 IDDM2|ILPR|IRDN|MODY10 OTTHUMP00000196036|OTTHUMP00000196038|OTTHUMP00000217519|insulin|proinsulin protein-coding 1642400 INS-IGF2 INS-IGF2 readthrough transcript This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq] 19913121,20628086,16531418,16344560,15146197,10737800,20967262,17554260,17632545,10431232,11855150,15008838,17667841,17700581,2902788,7672495,7913866,8565331 723961 NR_003512,NM_001042376,AC130303,AC132217,AI133461,AL568676,AW878608,AW878688,AW880662,BE161581,BF205917,BF438519,BI042755,BX369936,CB988622,CN338133,DA775768,DA840311,DA851509,DA858680,DQ104204,DQ104205,BQ128162 NP_001035835,ABD93452,ABD93453,Q1WM24,AAI48489,AAI53084 Hs.272259,Hs.716962 INSIGF OTTHUMP00000200116|insulin- insulin-like growth factor 2|insulin- insulin-like growth factor 2 read-through|insulin- insulin-like growth factor 2 read-through product protein-coding 1354308 INSAF insulin activator factor (insulin control element-binding transcription factor) 1580863 7935390 3637 S73205 AAB31986,Q16219 protein-coding 1606091 INSC inscuteable homolog (Drosophila) In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM] 20065032,20379614,16458856,12477932,12469229 387755 NM_001031853,NM_001042536,AC090744,AB231744,AB231745,AB231746,AB231747,AB231748,AB231749,AB236158,AB236159,BC117561,BC127700 NP_001027024,NP_001036001,BAE46891,BAE17133,BAE17134,BAE17135,BAE17136,BAE46892,BAE93463,BAE93464,AAI27701,Q1MX18,Q3C1V5,AAI56333,AAI57084 Hs.591997 protein inscuteable homolog protein-coding 1347615 INSIG1 insulin induced gene 1 Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. It encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations in cells. This protein binds to the sterol-sensing domains of SREBP cleavage-activating protein (SCAP) and HMG CoA reductase, and is essential for the sterol-mediated trafficking of the two proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 2308857,2308858,1580863,2317203 12842885,12690205,12535518,12482938,12477932,12242342,12242332,12202038,12115587,15782218,20877301,16168377,9268630,18989534,18835813,18660489,18195716,18187584,17106696,17043353,16606821,16549805,16399501,16344560,15899885,15489334,15304479,15247248,15085196,14702039,14660594,12963821,12869692,19638338,19740467,19815544,19965593,20444954,19913121,20628086 2308857,2308858,2317203 3638 NM_198336,NM_005542,NM_198337,AC144438,AC144652,AC231970,CH236962,CH471149,U96876,AA565248,AF086365,AK095977,AK291675,AL541939,AY112745,BC001880,BI550548,BI918342,BM995866,BQ059075,BT007227,CR596868,DA590854,DA738378,DN996424 NP_938150,NP_005533,NP_938151,EAL23728,EAL23729,EAL23730,EAX04529,EAX04530,EAX04531,EAX04532,AAB69121,BAF84364,AAM44086,AAH01880,AAP35891,O15503 Hs.520819 CL-6|CL6|MGC1405 INSIG-1 membrane protein|OTTHUMP00000216471|insulin-induced gene 1 protein protein-coding 735428 INSIG2 insulin induced gene 2 The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq] 2308857,2317203 19399648,19360016,19263810,19224890,19197262,16606821,19197259,19105843,18989534,18839134,18682847,18660489,18615239,18570692,18514965,18464289,18426866,18398047,18347269,18319320,18270535,18239574,18223638,18195716,18162505,18070740,18003761,17489846,17471297,17465681,17428920,17137505,16614226,16549805,14702039,12842885,12624180,12482938,12477932,12242332,19523229,19638338,19740467,19772594,19851442,19948975,20007308,20028541,20045156,20083228,20092643,20145255,20373477,20504252,19913121,20628086,20645959,20653998,20816152,20538960,20712903,20816195,20877301,20920244,20955599 2308857,2317203 51141 NM_016133,AC009303,CH471103,AF125392,AF527632,AK021692,AK291433,AK298599,AL080184,BC022475,BX647805,CR595929 NP_057217,AAX93280,EAW95199,EAW95200,AAD43048,AAN28333,BAF84122,BAG60785,AAH22475,Q9Y5U4 Hs.7089 MGC26273 INSIG-2|INSIG2 membrane protein|insulin induced protein 2|insulin-induced gene 2 protein protein-coding 736797 INSL3 insulin-like 3 (Leydig cell) The protein encoded by this gene is an insulin like hormone produced mainly in gonadal tissues in males and females. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. It may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. The mutations in this gene may lead to, but not a frequent cause of, cryptorchidism. [provided by RefSeq] 1600162,1580863 8253799,8020942,19416220,19416190,19416188,19416166,19086273,19017913,18772597,18611973,18433302,18310050,18063691,17666478,17559848,17549672,17473281,17437853,17356050,17028442,17014531,16867980,16687567,16467267,16394084,16010410,15956751,15956746,15755855,15708846,15592455,15579790,15579743,15489334,15340161,15057824,14615376,12970298,12684664,12601553,12477932,12200137,12114498,11746019,11383919,11380919,11182749,11147585,11095425,10982185,10899310,10759163,10729310,10451226,10391220,9753072,9354668,8662778,8034302,8022790,8022486,7852540,7659163,17314233,7559633,12036966,20570702,12506116,15649866,19067106,19226271,19329805,19423540,19755411,19773279,20082125,20200332,20406964,20438785,19950223,20713036 1600162 3640 NM_005543,NG_012092,AC005952,AC007201,CH471106,X73637,AK302780,AY082014,BC032810,BC040435,BC053345,BC061886,BC071706,BC106721,BC106722,BX334591,CR608936,S72482,HC007042 NP_005534,AAD22740,EAW84633,EAW84634,EAW84635,EAW84636,CAA52017,BAG63984,AAL92559,AAH32810,AAH53345,AAH71706,AAI06722,AAI06723,AAB31371,P51460,Q6YNB5,CBH19326 Hs.37062 MGC119818|MGC119819|RLF|RLNL insulin-like 3|ley-I-L|leydig insulin -like hormone|leydig insulin -like peptide|leydig insulin-like peptide|relaxin-like factor b protein-coding 1354230 INSL4 insulin-like 4 (placenta) INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq] 1580863 8666396,8702754,18035692,15958731,15489334,15340161,15164053,12606452,12477932,12414911,9740319,9730618,9284764,19915573 3641 HC007044,HC044711,NM_002195,AL133547,CH471071,AK291543,BC026254,CR601901,L34838 CBH19327,CBH30685,NP_002186,CAH70506,EAW58772,BAF84232,AAH26254,AAB08516,Q14641 Hs.418506 EPIL|PLACENTIN early placenta insulin-like peptide|early placenta insulin-like peptide (EPIL)|insulin-like peptide 4 protein-coding 1350939 INSL5 insulin-like 5 The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq] 1580863 12975309,12477932,10458910,8702754,19178384,15525639,15489334,15340161,20800603,2834384,18577758 10022 NM_005478,AL354978,CH471059,AF133816,AY359030,BC101646,BC101648 NP_005469,CAH71844,EAX06516,AAD29686,AAQ89389,AAI01647,AAI01649,Q9Y5Q6 Hs.251380 MGC126695|MGC126697|PRO182|UNQ156 insulin-like peptide 5|insulin-like peptide INSL5 protein-coding 737125 INSL6 insulin-like 6 The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq] 61639,1580863 10598589,15489334,15164053,12477932,10819760,19915573 61639 11172 HC007046,HC044515,NM_007179,AL161450,CH471071,AF135824,AF156094,AW117587,BC126473,BC126475 ADR82756,CBH19328,CBH30587,NP_009110,CAD13336,EAW58773,AAF29604,AAD39003,AAI26474,AAI26476,Q9Y581 Hs.632648 RIF1 insulin-like peptide 5|insulin-like peptide 6|insulin-like peptide INSL6|relaxin/insulin-like factor 1 protein-coding 1319934 INSM1 insulinoma-associated 1 Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq] 1580863 16169070,19604042,18417529,18205207,16569215,12890672,12079283,11854618,11842116,11780052,9245732,8188699,1634555,19246490,20215568 3642 NM_002196,AL161658,U07172,BM503821,M93119 NP_002187,CAC36065,AAA20938,AAA58680,Q01101 Hs.89584 IA-1|IA1 insulinoma-associated protein 1|zinc finger protein IA-1 protein-coding 1315853 INSM2 insulinoma-associated 2 1580863 14702039,12477932,20091020 84684 NM_032594,AL160231,CH471078,AB037912,AF260323,AK096639,BC130377,BC130379 NP_115983,EAW65872,BAB69042,AAK49393,BAC04830,AAI30378,AAI30380,Q96T92 Hs.62813 IA-6|mlt1 insulinoma-associated protein 2|insulinoma-associated protein IA-6|zinc finger protein IA-6 protein-coding 69029 INSR insulin receptor After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2290465,2290446,2290447,2313694,2290454,2290460,2307338,2307339,2307341,2307335,2307343,2307333,2307336,2307025,2307334,2307342,2307344,2290462,1302524,1300048,1302526,1625124,1302525,1302523,1580863,1299201,1580595,1302575 8135823,8114715,8101305,8096518,8082780,8027066,7997262,7983039,7929343,7926007,7906861,7895674,7860063,7836419,7815442,7806540,7794689,7657032,7626603,7613486,7592607,7538143,7535775,7529876,7512963,7493946,7479769,7028018,3680248,3546306,3447155,3283938,3166375,3109943,3101064,2983222,2859121,2842060,2834824,2806055,2777789,2573522,2566545,2550426,2544998,2544997,2538124,2479553,2460770,2369896,2365819,2280779,2211730,2210055,2168397,2121734,2040394,2002058,1993068,1986371,1971035,1963473,1956339,1890161,1730625,1657953,1648089,1644241,1607076,1607067,1563582,1472036,1373652,1331107,1324934,1321605,1321126,1315125,1314826,1304913,185872,8912646,10871840,9006901,12504111,12031982,11604231,15924147,15735664,8603569,20009360,20620597,12477518,12468540,12456798,12420346,12270939,12237775,12237455,12193537,12153558,12125099,12112020,12107746,12031977,12023989,11997497,11994298,11875066,11866509,11735220,11726652,11694516,11606564,11551902,11506178,11409918,11401470,11374898,11342531,11279102,11266508,11260230,11232039,11208515,11158333,11094073,11075717,11071852,10978177,10921922,10896916,10830280,10816433,10805733,10803466,10764799,10733238,10650943,10635327,10598578,10594240,10482988,10453981,10443650,10437794,10196204,10084586,10026153,9819414,9756945,9748281,9742218,9741627,9722981,9710204,9703342,9658397,9524259,9507031,9506989,9492017,9449692,9446569,9428692,9398630,9355745,9312016,9299395,9249867,9199575,9197239,9195949,9175790,9122188,9121430,9092546,9083103,8916919,8900242,8890729,8826975,9092559,7559478,8276809,8440175,7537849,8452530,12138094,6849137,17001305,7556070,7693131,11500939,17925406,3518947,11001060,10747347,1898103,12881524,15182363,2986535,15069075,19387820,19246519,19211708,19139090,19135752,19064572,19047369,18996102,18991400,18925540,18828733,18785179,18767165,18716398,18711691,18708119,18693051,18676680,18660489,18616667,18556968,18535540,18455362,18348886,18318661,18249389,18048361,17965293,17957771,17914103,17855343,17854350,17658524,17577576,17563366,17563065,17556377,17475934,17434141,17416760,17374711,17348446,17344070,17340225,17325037,17275003,17229154,17221153,17201797,17102568,17078079,16962112,16946708,16831875,16814253,16806206,16761106,16510536,16473310,16382134,16314505,16137651,16127460,16084832,15951569,15938783,15862945,15799978,15745246,15738637,15715521,15708546,15694368,15632081,15629149,15590636,15588985,15582274,15581831,15563471,15522217,15498182,15485753,15337529,15240646,15233842,15205474,15192089,15169905,15161766,15114529,15061947,14729945,14722023,14693412,14690593,14568990,14551916,12970295,12878213,12850828,12738810,12734206,12732844,12730241,12711007,12665574,12654724,12634852,12613967,12612081,12575209,12560330,12538626,12493740,12477932,10615944,8702728,8692915,8662806,8639568,8636294,8626379,8621530,8557631,8513978,8504096,8496180,8463311,8463287,8458533,8454633,8432414,8419945,8390949,8388389,8385099,8347587,8326490,8314008,8288049,8243830,8242067,8188715,10340378,20421297,20568733,20624623,11289049,12660731,16582879,17159996,18834871,19051206,19167335,19170196,19170714,19219452,19326042,19406747,19459609,19541767,19560451,19575708,19578796,19625176,19654240,19688022,19692168,19720790,19815552,19817984,19835884,19926323,19948975,19950604,19996272,20068229,20200332,20348418,20360006,20416077,20468064,20493471,7935368,9819385,20734064,20849815,20855565,20857837,20971123,21082232,19898946,16434550,20339196,19913121,20602615,20628086,20634197 2290465,2290446,2290447,2313694,2290454,2290460,2307338,2307339,2307341,2307335,2307343,2307333,2307336,2307025,2307334,2307342,2307344,2290462,1302524,1302526,1625124,1302525,1302523,1299201,1580595,1302575 3643 NM_000208,NG_008852,AC010311,AC010526,AC010606,AC125387,CH471139,DQ021481,DQ311687,DQ311689,DQ311690,DQ333191,DQ333192,DQ333193,DQ333194,DQ333195,DQ333196,J03466,J05043,M27197,M29929,M29930,M32972,M76592,S76825,AB208861,AL365454,BC047591,BC117172,M10051,M24555,X02160,NM_001079817 NP_001073285,NP_000199,EAW69042,EAW69043,EAW69044,EAW69045,EAW69046,EAW69047,AAY44085,ABC55359,ABC55361,ABC55362,ABC46548,ABC46549,ABC46550,ABC46551,ABC46552,ABC46553,AAA59175,AAA59190,AAA86791,AAA59176,AAA59177,AAA59452,AAC37604,AAB33426,BAD92098,AAH47591,AAI17173,AAA59174,AAA59178,CAA26096,P06213,Q2MKN9,Q2MKP0,Q2MKP2,Q2PJC1,Q2PJC2,Q2PJC3,Q2PJC4,Q2PJC5,Q4U0V1,Q86WY9 Hs.465744 CD220|HHF5 IR|insulin receptor protein-coding 1352498 INSRL insulin receptor-like 3644 1346961 INSRR insulin receptor-related receptor 1580863 10226785,18660489,16195402,15629149,14654552,10640820,10535406,10329736,8916919,7829525,7649121,2768234,2249481,1326521,20734064 3645 NM_014215,AL158169,CH471121,AF064078,AK310760,J05046 NP_055030,CAH70009,EAW52903,EAW52904,AAC17167,AAC31759,P14616,AAI56082,AAI57045 Hs.248138 IRR IR-related receptor|insulin receptor-related protein protein-coding 1346059 INSSA1 insulin synthesis associated 1 50607 1342587 INSSA2 insulin synthesis associated 2 50606 AW600301 protein-coding 1606801 INTS1 integrator complex subunit 1 INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 15489334,14702039,12975309,12477932,10718198,16421571,16344560,16239144,16169070,17643375 26173 NM_001080453,AC093734,AC102953,CH236953,AB037861,AI935093,AK128368,AL050110,AL137358,AY358482,BC004286,BC013367,BC018777,BC069262,BF346658,BK005720,BM547069,BM553299,BX324321,CR590499,CR600617,DB113520 NP_001073922,EAL23941,EAL23942,BAA92678,CAB43278,CAB70710,AAQ88846,AAH04286,AAH13367,AAH18777,AAH69262,DAA05720,Q8N201,Q9BT91 Hs.532188 DKFZp586J0619|FLJ46624|INT1|KIAA1440|NET28 integrator complex subunit 1 protein-coding 1602701 INTS10 integrator complex subunit 10 INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 12620389,16239144,18193046,15489334,12477932,14702039 55174 NM_018142,AC107964,CH471080,AI479676,AK001431,AK092931,AL442078,BC001915,BC006209,BC051282,BK005727,BM547763,CR457262,CR598741,CR601199,CR606025 NP_060612,EAW63765,EAW63766,EAW63767,EAW63768,EAW63769,BAA91687,CAC09444,AAH01915,AAH06209,AAH51282,DAA05727,CAG33543,Q9NVR2 Hs.512627 C8orf35|FLJ10569|INT10 integrator complex subunit 10 protein-coding 1601748 INTS12 integrator complex subunit 12 INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,15489334,12477932,20010835,20332099,17207965 57117 NM_001142471,NM_020395,AC105391,CH471057,CS300539,AF242524,AK314939,BC014442,BK005729,CR596020,CR621057,CR626660 NP_001135943,NP_065128,EAX06189,EAX06190,CAK32203,AAF99604,BAG37445,AAH14442,DAA05729,Q96CB8,ADQ31768 Hs.480454 INT12|PHF22|SBBI22 PHD finger protein 22|integrator complex subunit 12 protein-coding 1606257 INTS2 integrator complex subunit 2 INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,11256614,16381901,15489336,11230166,11076863,10574462 57508 NR_026641,NM_020748,AC060798,CH471179,AB033113,AK299032,AK308307,AL136800,BK005721,CR533582 NP_065799,EAW51434,EAW51435,EAW51436,BAA86601,BAG61107,CAB66734,DAA05721,CAG38656,Q9H0H0,CAL38257 Hs.279646 INT2|KIAA1287 integrator complex subunit 2 protein-coding 1603299 INTS3 integrator complex subunit 3 INTS3 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16710414,15489334,15302935,14702039,12477932,11483580,9373149,8125298,17643375,18449195,19605351,19683501,19759019,19786574 65123 AL513523,BK005722,CH471121,AF130066,AK025572,AK055174,AK074979,AK126799,AK225294,AK290025,AL080172,AL832133,BC025254,BC054513,BC073985,BC098431,BC105092,NM_023015,BX640950,CR591900,CR623345,CR627233,CR749212,CR749376,BC105094,BC116458,BX640786,AK298746,AK304874 NP_075391,CAH71415,CAH71416,CAH71417,CAH71418,DAA05722,EAW53279,EAW53280,EAW53281,EAW53282,EAW53283,AAG35494,BAB15174,BAC11329,BAF82714,CAH10398,AAH25254,AAH54513,AAH73985,AAH98431,CAE45974,CAH10366,CAH18069,CAH18229,Q5VUQ9,Q68E01,Q9H3A6,AAI05093,AAI05095,AAI16459,CAE45876,BAG60890,BAG65611 Hs.516522 C1orf193|C1orf60|DKFZp686E1950|DKFZp686O20115|DKFZp781I1253|FLJ21919|FLJ44849|INT3|RP11-216N14.2|SOSS-A OTTHUMP00000038687|OTTHUMP00000222672|RP11-216N14.4|SOSS complex subunit A|integrator complex subunit 3|sensor of single-strand DNA complex subunit A|sensor of ssDNA A|sensor of ssDNA subunit A protein-coding 1603936 INTS4 integrator complex subunit 4 INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 17010949,17643375,16239144,15489334,12477932 92105 AP002812,AP003032,CH471076,AF172822,AK000455,AK290866,AL834171,BC006369,BC008013,BC009859,BC009995,BC015664,BC018672,BE727962,BK005723,NM_033547 NP_291025,EAW75041,AAQ13616,BAF83555,AAH06369,AAH08013,AAH09859,AAH09995,AAH15664,DAA05723,Q96HW7,ABZ92084 Hs.533723 INT4|MGC16733|MST093 MSTP093|integrator complex subunit 4 protein-coding 1603513 INTS4L1 integrator complex subunit 4-like 1 12477932 285905 NR_027393,AC104073,AK057766 BAB71563,Q96LV5 Hs.567827 FLJ25037|MGC133166 pseudo 2306249 INTS4L2 integrator complex subunit 4-like 2 15489334,12477932,9847074 644619 NR_027392,AC104057,BC111554,AC073107 AAI11555,Q2T9F4 Hs.676517 MGC133166 pseudo 1603295 INTS5 integrator complex subunit 5 INTS5 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,15489334,15302935,14702039,12477932,11214970 80789 NM_030628,AP001458,CH471076,AB051485,AK074261,AK123587,BC028025,BC060841,BK005724,CR623757 NP_085131,EAW74051,BAB21789,AAH28025,AAH60841,DAA05724,Q6P9B9 Hs.458390 INT5|KIAA1698 integrator complex subunit 5 protein-coding 1319842 INTS6 integrator complex subunit 6 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and located in the critical region of loss of heterozygosity (LOH). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 17310990,10467397,16239144,18029348,16271964,16007164,15489334,15254679,15057823,14702039,12527901,12477932,11939413 26512 NM_001039937,NM_001039938,AL137780,AL354820,CH471075,AF097645,AF141326,AK074946,AK096696,AK128795,AK296801,NM_012141,AK303869,AK304218,AL117626,AL833524,BC013358,BC018725,BC032386,BC039829,BC040581,BC094745,BK005730,CR607963 NP_036273,NP_001035026,NP_001035027,CAI12905,CAI15586,EAX08873,EAX08874,EAX08875,EAX08876,EAX08877,EAX08878,EAX08879,EAX08880,EAX08881,AAF03046,AAD39481,BAG52037,BAG53352,BAG54738,BAG59375,BAG64807,BAG65090,CAB56020,AAH13358,AAH18725,AAH32386,AAH39829,DAA05730,Q9UL03 Hs.439440 DBI-1|DDX26|DDX26A|DICE1|DKFZp434B105|HDB|INT6|Notchl2 DEAD box protein|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26|OTTHUMP00000215036|OTTHUMP00000215038|OTTHUMP00000215039|RNA helicase HDB|integrator complex subunit 6|protein deleted in cancer 1 protein-coding 1604023 INTS7 integrator complex subunit 7 INTS7 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16381901,15489336,15489334,14702039,12477932,11230166,11076863,17643375,20379614,16344560,18213392,20457598 25896 AC092814,CH471100,AK001363,AK001598,AK022509,AK022589,AK297225,AL117576,AL133049,BC009918,BC020523,NM_015434,BC030716,BC033918,BC036009,BK005725,DB062625,NM_001199809,NM_001199811,NM_001199812,NR_037667 AAH20523,AAH33918,NP_056249,EAW93400,EAW93401,EAW93402,EAW93403,EAW93404,EAW93405,EAW93406,BAA91650,BAA91779,BAB14067,BAB14116,BAG59708,CAB56000,CAB61376,AAH30716,DAA05725,Q9NVH2,CAL37532,NP_001186738,NP_001186740,NP_001186741 Hs.369285 C1orf73|DKFZp434B168|INT7 integrator complex subunit 7 protein-coding 1604344 INTS8 integrator complex subunit 8 INTS8 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,17081983,15489334,14702039,12477932,9373149,8889549,8125298,20379614 55656 NM_017864,AP003692,CH471060,AB161944,AK000537,AK001403,AK091278,AK225533,BC050536,BC064915,BC099915,BC136754,BC144396,BC144397,BK005731,BM474137,BX538203,CA867295 NP_060334,EAW91726,BAD10863,BAA91238,BAA91671,BAG52322,AAH50536,AAH64915,AAI36755,DAA05731,CAD98067,Q75QN2 Hs.727669 C8orf52|FLJ20530|INT8|MGC131633 integrator complex subunit 8|protein kaonashi-1 protein-coding 1603989 INTS9 integrator complex subunit 9 INTS9 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16421571,15684398,15489334,14702039,12477932,10493829,9373149,8125298 55756 NM_001145159,NM_018250,AC040975,AC131969,CH471080,U96629,AK001733,AK225072,AK225530,AK295977,AK298468,AK300593,AK304525,BC016687,BC025267,BK005674,BK005726,CR593686,CR600799,CR617525,NR_026826,CR625514,DC339488,AA825242,NG_016981,NM_001172562 ACE86526,NP_001138631,NP_060720,EAW63504,EAW63505,EAW63506,AAB67601,BAA91867,BAH12233,BAH12796,BAH13311,BAH14206,AAH25267,DAA05670,DAA05726,Q9NV88,ACE87205,NP_001166033 Hs.162397 CPSF2L|FLJ10871|INT9|RC-74|RC74 integrator complex subunit 9|protein related to CPSF subunits of 74 kDa protein-coding 1319793 INTU inturned planar cell polarity effector homolog (Drosophila) 737633,1580863 10574462,16493421,15815621,15489334,14702039,12477932,16344560 737633 27152 NM_015693,AC093591,AC097462,AC110797,CH471056,CS300683,AB033110,AK123320,AK291481,BC051698,BC130611,BC144182,DB195553,DB302901 NP_056508,AAY41002,EAX05201,EAX05202,CAK32347,BAA86598,BAG53888,BAF84170,AAH51698,AAI30612,Q9ULD6,ADR83432 Hs.391481 FLJ41326|INT|KIAA1284|PDZD6|PDZK6 PDZ domain containing 6|PDZ domain-containing protein 6|homolog of inturned protein-coding 1604022 INVS inversin This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 19177160,18218308,17216245,16642442,16522655,16189514,15852005,15489334,15164053,12872123,12477932,12221118,11941489,9792867,8480178,15723066,15533716,19066617,18371931,21068128 27130 NM_014425,NM_183245,NG_008316,AF084382,AL137072,AL356798,AL445214,CH471105,AF039217,AF084367,AI792224,AK304851,AK312795,BC006370,BC041665,BC056897,BC063847,BC072429,BC111761,BC112351,CR610694 NP_899068,AAC79456,AAC79457,CAH72173,CAH72174,CAI40807,CAI40808,CAI39744,CAI39745,EAW58924,EAW58925,EAW58926,AAD02131,AAC79436,BAG65590,AAH06370,NP_055240,Q2M1I4,Q2NKL0,Q9Y283,AAH41665,AAI11762,AAI12352 Hs.558477 INV|KIAA0573|MGC133080|MGC133081|NPH2|NPHP2 inversin|inversion of embryo turning homolog|inversion of embryonic turning|nephrocystin 2|nephrocystin-2 protein-coding 1348101 IOSCA infantile onset spinocerebellar ataxia (autosomal recessive) 3648 1348932 IP1 incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements) 1346242 IP2 incontinentia pigmenti 2 (familial, male-lethal type) 1343323 IP6K1 inositol hexakisphosphate kinase 1 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing occurs for this gene; however, the full-length nature of all transcript variants has not yet been described. [provided by RefSeq] 1580863 16712791,10574768,16189514,15489334,15221640,12477932,11502751,10827188,10567691,9776982,9039502,11516400,19208622,20307617 9807 NM_001006115,NM_153273,AC099668,AC139451,AC141000,CH471055,AK289772,AK295689,AL561521,BC012944,BE387671,BG720032,BI193048,CB152138,CR598761,CR609527,CR621384,D87452 NP_001006115,NP_695005,EAW65016,EAW65017,EAW65018,EAW65019,EAW65020,BAF82461,BAG58541,AAH12944,BAA13393,Q92551 Hs.386168 IHPK1|MGC9925|PiUS ATP:1D-myo-inositol-hexakisphosphate phosphotransferase|OTTHUMP00000212677|OTTHUMP00000212678|Pi uptake stimulator|inositol hexakisphosphate kinase 1|inositol hexaphosphate kinase 1|insP6 kinase 1 protein-coding 731328 IP6K2 inositol hexakisphosphate kinase 2 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1302730 15146197,18029348,10574768,11337497,11502751,17379600,16344560,15533939,15489334,15342556,14702039,12477932,11896621,10827188,9776982,9110174,8889548,8619474,16189514,16712791 1302730 51447 AK290526,AK304714,CA488567,CD248129,CN362780,DA083858,NM_001190316,NM_001190317,NM_016291,NM_001005909,NM_001005910,NM_001005911,NM_001146178,NM_001146179,NR_027437,NR_027438,AC141002,CH471055,AF177145,AK024045,AK097016,AK315204,AL117458,AL137514,AY007091,BC001864,BC004469,BC019694,BC065533,BP262706,BX537544,CB144374,CF139656,CR591987,CR592174,CR595425,CR595634,CR603467,CR607564,CR616816,CR618536,CR622751,CR624222,DB039955,AK291501,CR606469 BAF83215,BAG65478,NP_001177245,NP_001177246,NP_057375,NP_001005909,NP_001005910,NP_001005911,NP_001139650,NP_001139651,EAW64920,EAW64921,EAW64922,EAW64923,EAW64924,AAF15057,BAG51257,BAG37641,CAB55936,CAB70780,AAG01984,AAH04469,AAH19694,AAH65533,Q9UHH9,ABM82707,ABM85891,BAF84190 Hs.595983 IHPK2|PIUS|PiUS ATP:1D-myo-inositol-hexakisphosphate phosphotransferase|OTTHUMP00000210229|inositol hexakisphosphate kinase 2|inositol hexaphosphate kinase 2|insp6 kinase 2|pi uptake stimulator|pius protein protein-coding 1350328 IP6K3 inositol hexakisphosphate kinase 3 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein. 1580863 20558539,14702039,12477932,9373149,8125298,11502751,19851445 117283 NM_054111,NM_001142883,AL139044,CH471081,AF393812,AK056586,AK223572,AK289935,BC089389,CR623666 NP_473452,NP_001136355,CAI16459,EAX03746,EAX03747,EAX03748,EAX03749,AAL17053,BAB71225,BAD97292,BAF82624,AAH89389,Q53ER7,Q5TAQ4,Q96PC2 Hs.17253 IHPK3|INSP6K3|MGC102928 ATP:1D-myo-inositol-hexakisphosphate phosphotransferase|InsP6 kinase 3|inositol hexakisphosphate kinase 3|inositol hexaphosphate kinase 3 protein-coding 1603404 IPCEF1 interaction protein for cytohesin exchange factors 1 11919282,11320098,14702039,12920129,12477932,11804589,20016009,9455477,17067457,20379614,19913121,20628086 26034 NM_001130700,NM_015553,NM_001130699,AL033376,AL132774,AL445220,CH471051,AB007863,AJ310566,AK093997,AK289917,BC105015,BC105043,BC143623,BC143629,BU075081,BX647254 NP_001124172,NP_056368,NP_001124171,CAI20459,CAH72408,EAW47701,EAW47702,BAA23699,CAC83949,BAF82606,AAI05016,AAI05044,AAI43624,AAI43630,CAI46054,Q8WWN9 Hs.146100 KIAA0403|PIP3-E|RP3-402L9.2 interaction protein for cytohesin exchange factors 1 Interaction protein for cytohesin exchange factors 1|interactor protein for cytohesin exchange factors 1|phosphoinositide binding protein PIP3-E|phosphoinositide-binding protein PIP3-E protein-coding 737355 IPMK inositol polyphosphate multikinase 1580863 15101685,15659385,16247451,16293229,17981594,15489334,14702039,12477932,12223481,12027805 253430 NM_152230,AC016396,AC026884,CH471083,AF432853,AK096839,BC016612,BC065709,BK000580 NP_689416,EAW54161,AAM97838,BAG53373,AAH65709,DAA01362,Q8NFU5 Hs.499690 inositol 1,3,4,6-tetrakisphosphate 5-kinase|inositol polyphosphate multikinase protein-coding 4889662 IPMKP1 inositol polyphosphate multikinase pseudogene 1 401730 AL162853,NG_011396 KIAA0263 pseudo 1322430 IPO11 importin 11 Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM] 17353931,16344560,16189514,15489334,14702039,12975309,12477932,11809816,11032817,12767927,17643375,20379614 51194 NM_001134779,NM_016338,AC008859,AC016637,AC114982,CH471137,AF111109,AK001696,AK023177,AK124969,AK302781,AL162083,AL705962,BC031694,BC033776,BC043163,BM966917,CR619272,DA473424,FJ695194 NP_001128251,NP_057422,EAW51379,EAW51380,EAW51381,AAF21936,BAA91843,BAG51165,BAG63985,CAB82416,AAH31694,AAH33776,Q5HY91,Q9UI26,ABM85459,ABW03725 Hs.482269 RanBP11 OTTHUMP00000205607|Ran binding protein 11|imp11|importin-11|ran-binding protein 11 protein-coding 731320 IPO13 importin 13 This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A. 1580863 16189514,19218565,17828378,17652081,16809634,15964792,15489334,15143176,14702039,12600309,12477932,11447110,10745026,9872452,19593795,19619331,20379614 9670 NM_014652,AL357079,CH471059,AB018267,AF267987,AK023441,AK091565,AK290173,AL117501,BC002608,BC008194,BX116797 NP_055467,CAI16798,CAI16799,EAX07072,EAX07073,BAA34444,AAF73471,BAB14575,BAG52382,BAF82862,CAB55966,AAH02608,AAH08194,O94829,Q6PKD4 Hs.158497 IMP13|KAP13|KIAA0724|LGL2|RANBP13 Ran binding protein 13|importin-13|karyopherin 13|karyopherin-13|late gestation lung 2|ran-binding protein 13 protein-coding 1313095 IPO4 importin 4 1580863 19615732,19788888,17353931,11823430,16964243,16207705,15489334,14702039,12610148,12477932,20805509 79711 NM_024658,AL136295,CH471078,AB208897,AF411122,AK026991,AK027871,AK056527,AK056702,AK057044,AK057277,AK074743,AK094107,AK094897,AK095306,AK302097,AK314305,BC003690,BC110804,BC136759,BC144399,BC144400,BF001674,BX248267,CR457367,CR592033,CR598877,CR625105 CAD62595,NP_078934,EAW66078,EAW66079,EAW66080,EAW66081,EAW66082,EAW66083,EAW66084,EAW66085,EAW66086,EAW66087,EAW66088,BAD92134,AAL78660,BAB15616,BAB55421,BAG51791,BAG51851,BAG51895,BAC11174,BAG52816,BAG52950,BAG53025,BAG63479,AAH03690,AAI10805,AAI36760,CAG33648,Q59FI4,Q59H62,Q6I9Y8,Q8TEX9 Hs.411865 FLJ23338|Imp4|MGC131665 imp4b|importin-4|importin-4b|ran-binding protein 4|ranBP4 protein-coding 1603712 IPO5 importin 5 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq] 20562859,12368302,11991713,11751052,11389849,11278458,11035935,10888652,10860744,10822175,10772949,10525473,10366569,10228156,9891055,9817747,9687515,9621063,9582382,9562972,9463369,9436978,9430704,9405152,9373149,9366553,9275210,8889548,8125298,8105392,1631159,11682607,10799599,9271386,9114010,15282309,18562802,18455505,18295457,17458142,17081983,17005651,16704975,16644122,15964792,15507604,15489334,15364420,14702039,12861017,12620808,12614157,12477932,12414950,15034937,17143267,17148452,17643375,19581934,19615732,20542336,20828572 3843 BM666295,BU618294,BX648222,CR609014,U72761,Y08890,AL137120,AL356580,CH471085,AF339834,AK125031,AK225286,AK302812,AK303494,AL705630,BC000947,BC001497,BC019309,BC045640,NM_002271 AAH45640,AAC51317,CAA70103,O00410,Q5T576,Q5T577,Q9BVS9,ABM83959,ABW03556,NP_002262,CAI16520,CAI13757,CAI13758,CAI13759,EAX08977,EAX08978,EAX08979,EAX08980,EAX08981,BAG54128,BAG64012,BAG64528,AAH00947,AAH01497,AAH19309 Hs.712598 DKFZp686O1576|FLJ43041|IMB3|KPNB3|MGC2068|RANBP5 OTTHUMP00000018584|OTTHUMP00000214877|OTTHUMP00000214878|RAN binding protein 5|Ran_GTP binding protein 5|imp5|importin beta-3 subunit|importin subunit beta-3|importin-5|karyopherin (importin) beta 3|karyopherin beta-3|ran-binding protein 5 protein-coding 1321989 IPO7 importin 7 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq] 1580863 9214382,19193229,18519565,18003734,17848547,16704975,16344560,15964792,15592455,15489334,15282309,12853482,12665801,12477932,12080050,11682607,10228156,10209022,9687515,8889548,17020411,19435463,19609347,19615732,19788888,20085707,18029348 10527 BC026754,NM_006391,AC055845,AC132192,AJ295844,CH471064,AF098799,AK027487,AK027892,AK074908,AK312885,AL117596,AL137335,BC114929,BM980653,BX342418,CR612559,DA780921 NP_006382,CAC17609,EAW68591,EAW68592,EAW68593,AAC68903,BAG51331,BAG51391,BAG52028,BAG35733,CAB70698,AAI14930,O95373 Hs.523470 FLJ14581|Imp7|MGC138673|RANBP7 RAN-binding protein 7|importin-7 protein-coding 1343350 IPO8 importin 8 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. [provided by RefSeq] 1580863 9214382,19167051,19014639,18519565,16344560,12477932,11682607,10737800,16713569,17903295 10526 NM_006390,AC012673,AC023426,CH471094,AB209602,AK000201,AK130090,AK302260,AU132276,BF947771,BQ435282,BX953637,U77494,AA620453,AK025607,BG574795,DB067822,DB072643,DB088518,DC400226,EB387074,NM_001190995 NP_006381,EAW96607,BAD92839,BAH13659,AAB67052,O15397,Q59F59,AAI67853,NP_001177924 Hs.505136 FLJ21954|FLJ26580|RANBP8 RAN binding protein 8|imp8|importin-8|ran-binding protein 8 protein-coding 1321497 IPO9 importin 9 1580863 11823430,16344560,15489334,14702039,12670497,12477932,11493596,11042152,10574461,9110174,8619474,15282309,17148452,17643375,19615732 55705 AL513217,AL645504,CH471067,AB033018,AF070633,AF161391,AF410465,AK001264,AK027532,AK055940,AK074740,AK094276,AK124260,AL834323,NM_018085,BC003604,DA861528,DB232332 NP_060555,CAI17015,CAI17016,EAW91375,EAW91376,EAW91377,BAA86506,AAF28951,AAL01416,BAA91588,BAB55181,BAC11173,CAD38991,AAH03604,Q96P70,AAI56332 Hs.596014 DKFZp761M1547|FLJ10402|Imp9 importin-9|ran-binding protein 9|ranBP9 protein-coding 1314841 IPP intracisternal A particle-promoted polypeptide The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 10072760,16344560,14702039,12477932,11536049,8432546,1906605,1905535,15522220 3652 NM_001145349,NM_005897,AL604028,BX664740,CH471059,CR589949,AF156857,AK023880,BC032544,DA905423 CAM12885,CAM12886,CAM12889,NP_001138821,NP_005888,CAI23599,EAX06950,EAX06951,EAX06952,AAD39007,BAG51233,AAH32544,Q8N5C3,Q9Y573 Hs.699548 KLHL27 actin-binding protein IPP|kelch-like protein 27 protein-coding 1322638 IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase 15979280,12084730,15967797,15489334,15164053,14702039,12477932,20881960 64768 NG_027879,NM_022755,AL137074,AL157827,CH471089,AF351200,AF351201,AF351202,AF520811,AK023225,AK024267,AK096392,AK123694,BC026154 NP_073592,CAI14368,CAI12586,CAI12593,EAW62826,AAK69692,AAM75353,BAB14476,BAB14866,BAG53939,AAH26154,Q9H8X2 Hs.459896,Hs.713775 C9orf12|FLJ13163|INSP5K2|IP5K|IPK1|KIAA0699|bA476B13.1 1,3,4,5,6-pentakisphosphate 2-kinase|IPK1 homolog|bA476B13.1 (novel protein)|chromosome 9 open reading frame 12|inositol-1,3,4,5,6-pentakisphosphate 2-kinase|inositol-pentakisphosphate 2-kinase|ins(1,3,4,5,6)P5 2-kinase|insP5 2-kinase protein-coding 1342539 IPW imprinted in Prader-Willi syndrome (non-protein coding) 15146197,9601023,7849716 3653 NG_002690,NR_023915,AC124303,CN332356,U12897,NG_021193 Hs.555970 NCRNA00002 miscrna 1349054 IQCA1 IQ motif containing with AAA domain 1 737633 15815621,15489334,14702039,12477932,9373149,8125298,20339536 737633 79781 AK090907,BC043504,NM_024726,AC019068,AC079611,AC093915,CH471063,AK026180,AK054711,AK225433,AK294105,AK295566,BC008085,BC018494,BC028699 AAH28699,AAH43504,Q53SG8,Q86XH1,NP_079002,AAX93149,AAX93085,AAY24064,EAW71087,EAW71088,EAW71089,EAW71090,EAW71091,BAB15384,BAB70798,BAG57440,BAG58466 Hs.591594,Hs.621320,Hs.711488 4930465P12Rik|FLJ22527|FLJ33588|IQCA IQ and AAA domain-containing protein 1|OTTHUMP00000203008 protein-coding 2303439 IQCA1L IQ motif containing with AAA domain 1-like 12690205,12853948 392843 AC010973,AC021097,AACC02000108,DY654655,HM370405,XR_108789,XR_110768,XR_113087,XR_114111 EAL24505,EAL24506,A6NCM1,ADM86751 Hs.649589 TCAG_9762 pseudo 1320759 IQCB1 IQ motif containing B1 1580863 15723066,16322217,15723349,15661758,15489334,12477932,12244321,8889548,7584028,7584026,18723859,19118152,21068128 9657 NM_001023570,NM_001023571,AC119736,CH471052,AB062481,AL042102,AY714228,AY964667,AY964668,BC005806,BG721354,BM682018,BQ068103,BX393165,CR603196,D25278,NG_015887 NP_001018864,NP_001018865,EAW79499,EAW79500,EAW79501,BAB93506,AAW47233,AAY46029,AAY46030,AAH05806,BAA04968,Q15051,Q3KS08,Q3KS09 Hs.604110 NPHP5|PIQ|SLSN5 IQ calmodulin-binding motif containing 1|IQ calmodulin-binding motif-containing protein 1|iq calmodulin-binding motif containing 1|nephrocystin 5|p53 and DNA damage-regulated IQ motif protein protein-coding 1343299 IQCB2P IQ motif containing B2 pseudogene 493814,340192 AL121944,NG_005320 IQCB1P1|dJ313I6.1 pseudo 1343946 IQCC IQ motif containing C 16710414,16344560,15489334,14702039,12477932,9373149,8125298 55721 NM_001160042,AL049795,CH471059,AK001409,AK223272,AK299235,AK307853,BC029986,BC098250,BC098260,BC098317,BC098366,NM_018134,DA746781,DB324323 NP_060604,NP_001153514,CAI22058,EAX07562,BAA91674,BAD96992,BAG61267,AAH98250,AAH98260,AAH98317,AAH98366,Q4KMZ1 Hs.274356 FLJ10547|MGC120341|RP4-622L5.6 IQ domain-containing protein C protein-coding 1346446 IQCD IQ motif containing D 737633,1580863 16541075,15489334,14702039,12477932,17207965 737633 115811 NM_138451,AC089999,CH471054,AK127152,BC013151 NP_612460,EAW98043,EAW98044,EAW98045,BAC86856,AAH13151,Q96DY2,ADQ31666 Hs.568276 4933433C09Rik IQ domain-containing protein D protein-coding 1350439 IQCE IQ motif containing E 16381901,16344560,15489336,14702039,12477932,11076863,10470851,8889548,20877624 23288 NM_152558,NM_001100390,AC073462,AC092488,CH236953,CH471144,AB028946,AK092404,AK293372,AK302053,AK309646,AL136792,AL137525,BC043150,BC052992,BC061518,BC071858,BM681165,CR596730,DA246430 NP_689771,NP_001093860,EAW87261,EAW87262,EAW87263,EAW87264,BAA82975,BAG52546,BAG56885,BAG63443,CAB66726,AAH43150,AAH71858,Q6IPM2,CAL37749,CAL38113,AAH61518 Hs.520627 1700028P05Rik|KIAA1023|MGC41907 IQ domain-containing protein E|OTTHUMP00000201095|OTTHUMP00000201100 protein-coding 1348129 IQCF1 IQ motif containing F1 737633 15489334,12477932,17207965 737633 132141 BC034228,NM_152397,AC097636,CH471055,AK131018,BC029595 AAH34228,AAH29595,Q8N6M8,NP_689610,EAW65158,ADQ32688 Hs.671210 FLJ27508|MGC39725 IQ domain-containing protein F1 protein-coding 1350039 IQCF2 IQ motif containing F2 15489334,17207965,14702039,12477932 389123 NM_203424,AC097636,CH471055,AK128883,BC040047,HC007050 NP_982248,EAW65156,AAH40047,Q8IXL9,ADQ33076,CBH19330 Hs.412294 MGC50809 IQ domain-containing protein F2 protein-coding 1353537 IQCF3 IQ motif containing F3 14702039,12477932 401067 NM_001085479,AC097636,CH471055,AK057432,BC021188,BC146874,BC146889,BC171811,BC171818,HC007052 NP_001078948,EAW65154,AAI46875,AAI46890,AAI71811,AAI71818,P0C7M6,CBH19331 Hs.254808 IQ domain-containing protein F3|OTTHUMP00000210999|OTTHUMP00000211000 protein-coding 2303477 IQCF5 IQ motif containing F5 16641997 389124 NM_001145059,AC097636,AW138546,BX106781,HC044653 NP_001138531,A8MTL0,CBH30656 Hs.666604 IQ domain-containing protein F5|OTTHUMP00000211011 protein-coding 2302686 IQCF6 IQ motif containing F6 440956 NM_001143833,AC099050,CH471055,BX093815 NP_001137305,EAW65151,A8MYZ5 Hs.444316 IQ domain-containing protein F6 protein-coding 1345008 IQCG IQ motif containing G 737633 16344560,15489334,14702039,12477932,11230166,16169070 737633 84223 NM_032263,NM_001134435,AC135893,CH471252,AI564330,AK021729,AK027224,AK095094,AL136889,BC004816,BC016156,BC068973,BC136253,CD692782,CR533515,CR611369,DA358032,DA566107 NP_115639,NP_001127907,EAW92246,EAW92247,BAB13881,BAB15699,CAB66823,AAH04816,AAI36254,CAG38546,Q9H095,Q9H5C8,ACE87265,ACE86580 Hs.591675 DKFZp434B227|FLJ11667|FLJ23571|FLJ37775 IQ domain-containing protein G protein-coding 1604310 IQCH IQ motif containing H 18491143,15897968,15489334,14702039,12477932,20379614,21102462 64799 NM_001031715,NM_022784,AC012568,AC016355,AC106000,AC110292,CH471082,AK022538,AK292478,AK304303,AL133556,AY014282,BC031041,BC039292,BC039463,BC048964 NP_001026885,NP_073621,EAW77794,EAW77795,EAW77796,EAW77797,BAB14087,BAF85167,BAG65156,CAB63711,AAK27307,AAH31041,AAH39292,AAH48964,Q86VS3 Hs.657894 DKFZp434F2114|FLJ12476|NYDSP5 IQ domain-containing protein H|testis development protein NYD-SP5 protein-coding 1605141 IQCJ IQ motif containing J 17045569,14702039,12477932,16344560,18550753 654502 NM_001042705,NM_001042706,AC092997,AC107312,CH471052,AK309049,BC137464,BC137469,BC144658,DQ309553,DQ309554,DA305468,NM_001197100 NP_001036170,NP_001036171,EAW78670,AAI37465,AAI37470,AAI44659,ABC26018,ABC26019,Q1A5X6,NP_001184029 Hs.570685 IQ domain-containing protein J|OTTHUMP00000213589|OTTHUMP00000213608|calmodulin binding protein protein-coding 1605300 IQCK IQ motif containing K 15489334,15302935,14702039,12477932,11790298,10493829,19913121,20628086,20935630 124152 NM_153208,AC002550,AC027130,AC134300,CH471186,AF520569,AF520570,AK000122,AK093894,AK301933,AK303998,AK311216,AK315672,BC010515,BC034823,CR605335 NP_694940,AAC05807,EAW50295,EAW50296,EAW50297,EAW50298,EAW50299,EAW50300,EAW50301,AAM77339,AAM77340,BAG52781,BAG63353,BAG64915,BAG38037,AAH10515,AAH34823,Q8N0W5,Q96FR4,ACT64471,ACT64472 Hs.460217 FLJ20115|FLJ36575|MGC35048 IQ domain-containing protein K protein-coding 1323573 IQGAP1 IQ motif containing GTPase activating protein 1 This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq] 1580863 20562859,16190873,16179592,16135787,16105843,15695813,15634346,15592455,15572129,15572120,15521075,15389538,15355962,15302935,15263019,15252131,15217908,15121898,15081409,14970219,14702039,14699063,12938160,12900413,12745076,12603848,12477932,12446675,12377780,12110184,11948177,11809768,11790459,11734550,11289714,10793131,10608854,9712880,9199170,9182573,8798539,8756646,16245300,8670801,16380380,8051149,18029348,19454477,19366706,19321438,19155310,19134119,19036171,18809683,18587628,18575779,18567582,18541705,17981797,17853893,17693642,17620407,17563371,17544257,17517894,17255093,17085436,17081983,16964243,16622255,16387427,8702968,7584044,9535855,12577067,17353931,20127691,17050673,20530982,20644981,20875083,15166316,19079338,19615732,19856315,20017185,9368021 8826 AC018946,AC103739,CH471101,AF401205,AI924000,AK055054,AK125643,AK130574,AK298000,AK304337,AK307643,AL110106,BC005906,BC016714,BC020549,BC037425,BC064971,BC089385,BC110811,BC139731,BC151834,D29640,NM_003870 Q6P1N4,Q96PA3,NP_003861,EAX02102,EAX02103,AAL02166,BAG60306,BAG65182,AAH05906,AAH20549,AAH37425,AAH64971,AAH89385,AAI10812,AAI39732,AAI51835,BAA06123,P46940,Q05DN7,Q5FWG8 Hs.430551 HUMORFA01|KIAA0051|SAR1|p195 RasGAP-like with IQ motifs|ras GTPase-activating-like protein IQGAP1 protein-coding 1350713 IQGAP2 IQ motif containing GTPase activating protein 2 This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq] 1580863 20562859,8756646,17957782,16344560,15621655,15458922,14743216,12665801,12515716,12376551,8702968,17353931,11554782,20800603,20628086,19913121,17254974,20068591,20379614 10788 NM_006633,AC025188,AC026706,AC026725,AC093251,AC112173,CH471084,AB208856,AK291066,AK307555,AK307626,AK311619,AY351902,BI481276,CR601162,DB075371,U51903,AK302510,AK302599,AK302981,AK303054 AAB37765,Q13576,Q59HA3,NP_006624,EAW95775,EAW95776,EAW95777,BAD92093,BAF83755,AAQ81291,BAH13732,BAH13758,BAH13867,BAH13890 Hs.291030 OTTHUMP00000222010|OTTHUMP00000222013|ras GTPase-activating-like protein IQGAP2 protein-coding 1314286 IQGAP3 IQ motif containing GTPase activating protein 3 1580863 17244649,14702039,12477932,20800603 128239 NM_178229,AL365181,CH471121,AB105103,AK122653,AY253300,BC033549,BC131536,BG722726,BM910515 NP_839943,CAI13046,EAW52945,EAW52946,EAW52947,BAC78211,BAC85501,AAP06954,AAI31537,Q86VI3 Hs.591495 MGC10170|MGC10831|MGC1947 ras GTPase-activating-like protein IQGAP3 protein-coding 1343743 IQSEC1 IQ motif and Sec7 domain 1 20613766,20601426,18084281,16807291,16461286,15489334,15302935,12477932,11226253,9872452,9110174,8619474 9922 NM_014869,AC018836,AC069271,CH471055,AB018306,AF055004,AK294525,AY653734,BC010267,BC008088,BC024645,BQ004209,NM_001134382 NP_055684,EAW64147,EAW64148,BAA34483,BAG57736,AAT72063,AAH10267,Q6DN90,NP_001127854 Hs.475506 ARFGEP100|KIAA0763 ADP-ribosylation factors guanine nucleotide-exchange protein 100|ADP-ribosylation factors guanine nucleotide-exchange protein 2|IQ motif and SEC7 domain-containing protein 1|OTTHUMP00000207923|OTTHUMP00000207924|brefeldin-resistant Arf-GEF 2 protein protein-coding 1353175 IQSEC2 IQ motif and Sec7 domain 2 18029348,17623647,17045249,15772651,15669143,15197169,14742722,14702039,12477932,9628581,20473311 23096 NM_015075,NM_001111125,NR_024449,AL139396,AL161779,AL590123,CH471154,AB011094,AK095232,BC038213,BC044252,BC108674,BX119489,FJ154890,FJ154891,FJ154892,NG_021296 NP_055890,NP_001104595,CAI39832,CAI39839,CAI42091,EAW93147,BAA25448,BAG53009,Q5JU85,Q5JUX1,AAI56684,ACR15955,ACR15956,ACR15957 Hs.496138 BRAG1|KIAA0522|MRX1 IQ motif and SEC7 domain-containing protein 2|brefeldin A resistant Arf-guanine nucleotide exchange factor 1|brefeldin A resistant Arf-guanine nucleotide exchange factor 1b|brefeldin A resistant Arf-guanine nucleotide exchange factor 1c protein-coding 1605175 IQSEC3 IQ motif and Sec7 domain 3 17981261,14702039,12477932,10470851 440073 NM_015232,AC026369,CH471116,AB029033,AK091953,BC024764,BC042067,NM_001170738,AC007406 NP_056047,EAW88980,EAW88981,EAW88982,EAW88983,EAW88984,BAA83062,AAH24764,Q9UPP2,NP_001164209 Hs.536319,Hs.722301 KIAA1110|MGC30156 IQ motif and SEC7 domain-containing protein 3 protein-coding 1606694 IQUB IQ motif and ubiquitin domain containing 16344560,16189514,15489334,14702039,12477932,20602751 154865 NM_178827,AC073323,CH236947,CH471070,AK093153,AK093393,AK127736,BC026173,BC032838,BC036121,BC057256,BC068607,BC091520,BC128181,BC128182,DA112303 NP_849149,EAL24336,EAW83583,EAW83584,EAW83585,BAC04074,BAC04153,AAH26173,AAH36121,AAH91520,AAI28182,AAI28183,Q8NA54 Hs.159650 FLJ35834|MGC149284|MGC149285 IQ and ubiquitin-like domain-containing protein|OTTHUMP00000212000 protein-coding 1348457 IRAK1 interleukin-1 receptor-associated kinase 1 This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1582271 16024789,19505919,19453261,19329491,19288030,19282863,19264973,19181383,19166933,19166926,19025640,18987746,18566305,18474871,18411265,18347055,18276832,18079163,18070982,18050247,17997719,17920759,17905570,17878161,17785851,17675297,17548806,17382928,17276401,17053167,16907704,16690127,16537705,16528020,16477006,16381901,16286016,16203735,16107720,16094384,16052631,15829295,15767370,15691841,15647277,15523691,15489336,15489334,15465816,15084582,15069085,14752294,14684752,12925853,12874243,12860405,12856330,12724322,12721283,12619925,12566447,12496252,12477932,12391239,12370331,12242293,12055225,12034707,11976320,11960013,11953430,11937546,8599092,10383454,11397809,16831874,10854325,10465784,12138165,20562859,20400509,20890200,11828002,11701612,11518704,11287640,11096118,11076863,10899313,10723722,10395695,10395652,10191251,9918122,9625770,9374458,9371760,8837778,18326498,18180283,18724939,18234474,11259596,11777917,11744690,10920205,11544529,10747026,15894263,10022904,10346818,11244088,12054681,15276183,16884718,16997282,17113392,19104650,19716405,19754427,19838195,19948975,20044140,20056178,20448286,20463618,20500689,9252186,9575168,9915784,14625308,20937840,20542134,19913121,20619458,20628086 1582271 3654 NM_001025243,NM_001569,NM_001025242,NG_008387,AF030876,CH471172,U52112,AF346607,BC014963,BC054000,BE276817,CR604638,CR611861,CR619624,DQ054788,L76191 NP_001020414,NP_001560,NP_001020413,AAC08756,EAW72760,EAW72761,EAW72762,EAW72763,EAW72764,EAW72765,AAK62888,AAH14963,AAH54000,AAY88246,AAC41949,P51617,Q96C06,CAL37502,CAL38089,ACE87114,ACE86439 Hs.522819 IRAK|pelle IRAK-1|Pelle homolog|interleukin-1 receptor-associated kinase 1 protein-coding 1312787 IRAK1BP1 interleukin-1 receptor-associated kinase 1 binding protein 1 17079333,15485901,12477932,11096118 134728 NM_001010844,AL450327,CH471051,AK098678,AK309003,BC112253,BC112255 NP_001010844,CAH70883,EAW48721,AAI12254,AAI12256,Q5VVH5 Hs.656212 AIP70|MGC138458|MGC138460|SIMPL 4921528N06Rik|ActA binding protein 3|interleukin-1 receptor-associated kinase 1-binding protein 1 protein-coding 1319999 IRAK2 interleukin-1 receptor-associated kinase 2 IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq] 1580863 20332216,9374458,10383454,12493773,19240061,18996842,17878161,11744690,11544529,10191251,9918122,12721283,20800603,21048031,15670593,15489334,12477932,12659850,15761153,17675297,19423540,19453261,20056178,20200953,20379614,20406964,20438785,20485341,9625770,15276183,20937840,19913121,20628086 3656 NM_001570,AC022384,CH471055,AF026273,AJ496794,AK299033,AK312841,AL538890,AL556221,BC125184,BG682610 NP_001561,EAW64069,AAB87669,CAD43180,BAG61108,BAG35695,AAI25185,O43187 Hs.449207 IRAK-2|MGC150550 interleukin-1 receptor associated kinase-2|interleukin-1 receptor-associated kinase-like 2 protein-coding 1318853 IRAK3 interleukin-1 receptor-associated kinase 3 1580863 19913121,20628086,10383454,17379480,21098228,18156187,12477932,12150927,15728517,19453261,19423540,19414798,19372141,19264973,19114913,19013233,18987746,18354163,17982103,17558906,17503328,16437636,16432636,16344560,15489334,15342556,14702039,14592437,12721283,12054681,19561104,20237496,20331378,20406964,20438785,20448286 11213 NM_007199,NM_001142523,AC078889,AC078927,CH471054,AF113136,AK023663,AK298645,AK314040,AL049435,BC029493,BC047399,BC057800,BC069388,BP292474,BQ009433,DA594800,NG_021194 NP_009130,NP_001135995,EAW97164,AAD40879,BAG60819,BAG36749,AAH57800,AAH69388,Q9Y616 Hs.369265 ASRT5|FLJ13601|IRAK-M|IRAKM IL-1 receptor-associated kinase M|interleukin-1 receptor-associated kinase 3 protein-coding 1313252 IRAK4 interleukin-1 receptor-associated kinase 4 This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [supplied by RefSeq] 1600199 12860405,16286016,15276183,18029348,14625308,16024789,19505919,19258923,19254290,19181383,19074885,19006693,18987746,18503546,18174872,18079163,17997719,17917042,17893200,17878374,17703412,17675297,17548806,17507369,17217339,17161373,17141195,17046325,16907704,16537705,16344560,16286015,15905496,15825022,15489334,15292196,15084582,14702039,12925671,12721283,12637671,12496252,12477932,12297423,11960013,11923871,10508479,3772297,10854325,16169070,19120481,19423540,19592493,19703016,19898481,20056178,20104875,20406964,20438785,20448286,20485341,20503287,20105294,20400509,19913121,20588308,20621347,20628086,18438411 1600199 51135 AK304583,AK314288,AY283670,AY283671,AY340962,AY340963,AY340964,AY340965,AY340966,AY340967,AY730682,BC013316,DA290809,NM_001114182,NM_001145256,NM_016123,NM_001145257,NM_001145258,NG_009892,AC093012,AY186092,CH471111,AF155118,AF445802,AI126481,AK000528,AK027301,AK299944 BAG61774,BAG65371,BAG36946,AAP57089,AAP57090,AAR02358,AAR02359,AAR02360,AAR02361,AAR02362,AAR02363,AAX22228,AAH13316,Q69FE1,Q69FE3,Q7Z6A7,Q7Z6A8,Q9NWZ3,ABM83811,ABM87133,NP_001107654,NP_001138728,NP_057207,NP_001138729,NP_001138730,AAN75440,EAW57867,AAD42884,AAM15772,BAA91232 Hs.138499 IPD1|NY-REN-64|REN64 IRAK-4|interleukin-1 receptor-associated kinase 4|renal carcinoma antigen NY-REN-64 protein-coding 733858 IREB2 iron-responsive element binding protein 2 1580863 20877624,7983023,19223469,18582596,18574241,17822790,17760563,17613866,17604281,17200797,16914832,16503547,15938636,15777842,15146197,15057521,14673166,12888568,12855587,12477932,12465072,12200453,12192037,11783942,7622457,7523370,7489724,2172968,1421965,19300482,19762596,19762597,19800047,20173748,20587604,20587610 3658 NM_004136,AC011270,AC027228,CH471136,DQ496102,AB209403,AK027033,AK027034,AK292992,AL133439,BC017880,BC117481,BC117483,BC143948,BX340905,CN290278,CR593632,CR610815,M58511,U20180 NP_004127,EAW99169,EAW99170,EAW99171,ABF47091,BAD92640,BAF85681,CAB62825,AAH17880,AAI17482,AAI17484,AAA69901,AAA79926,P48200,Q8WVK6,ADR83414 Hs.436031 ACO3|FLJ23381|IRP2|IRP2AD IRE-BP 2|iron regulatory protein 2|iron-regulatory protein 2|iron-responsive element-binding protein 2 protein-coding 735989 IRF1 interferon regulatory factor 1 IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq] 1580863,1600013,1600014 18688264,18678606,18676680,18655181,18454680,18401423,18381204,18338947,18316378,18216101,18200030,18084608,18079498,17985330,17970693,17947510,17924060,17918184,17869652,17852336,17703412,17617740,17516545,17498560,17328074,17255955,17213842,17177148,17121613,17016442,16961714,16944293,16914093,16894313,16857162,16679314,16636311,16512786,16483648,16223733,16195814,16085646,15907481,15878912,15863386,15778351,15710386,15576464,15560761,15548708,15511228,15509808,15489334,15489234,15331704,15265939,15241475,15226432,15173018,15078941,14993214,14764039,14675396,14599866,12788988,12759449,12732645,12711307,12677441,12545159,12482935,19463200,19433065,19428110,19295429,19258923,19247692,19145247,19131452,19056926,19028144,19012493,18986693,18694960,12477932,12433281,12420214,12420205,12191570,12162881,12115600,12105194,12067985,11970993,11948194,11909852,11846974,11846972,11804954,11721695,11716756,11559933,11483597,11315919,11304541,11240951,11069564,10764778,10438822,12479817,10357819,10022868,9865487,9865486,9742224,9679752,8746784,8438156,7768900,7507207,3409321,2726461,2475256,1680796,1382447,16703666,11675348,17942705,15893730,9649509,20435892,19697121,20457620,20177805,19858727,20177960,20525893,20861350,20211142,20980339,19880820,18641303,19129219,19170196,19345417,19404407,19426920,19450680,19502235,19536153,19548631,19574175,19625176,19642896,19692168,19805480,19845895,19851330,20031576,20031577,20459687,20485362,20503287,20817723,14662860,21102463,20533260,20588308 1600013,1600014 3659 NM_002198,NG_011450,AC003959,AC116366,CH471062,DQ789232,L05072,AA402319,AB103081,AB209624,AK298770,AK314025,BC009483,BT019755,BT019756,CR541713,CR594837,CR626580,X14454 NP_002189,AAB93488,EAW62332,ABH05670,AAA36043,BAD89424,BAD92861,BAG60912,BAG36735,AAH09483,AAV38560,AAV38561,CAG46514,CAA32624,P10914,Q59F37,Q5FBX3,Q6FHN8,Q75MZ8,ABM84195,ABM87598 Hs.436061 IRF-1|MAR OTTHUMP00000065832|OTTHUMP00000199798|interferon regulatory factor 1 protein-coding 1312641 IRF2 interferon regulatory factor 2 IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq] 1580863 7507207,8438157,18514056,18395009,17200120,16582966,15778351,15560761,15496418,15489334,15342556,15226432,14962090,12799427,12479817,12477932,12474233,11748221,11721886,11304541,11264730,11025449,10609788,10482277,10102295,10022868,9865487,9865486,9213219,8550813,8106512,7768900,7566098,2813069,2475256,11420046,19247692,19756143,20034464,20129639,20379614,9540062,18029348,20980339,1630448 3660 NM_002199,AC099343,CH471056,D14082,AA361545,AK312953,BC015803,BP200998,BQ017798,BT007264,BX648934,CR457077,X15949 NP_002190,EAX04677,EAX04678,EAX04679,EAX04680,BAG35793,AAH15803,AAP35928,CAG33358,CAA34073,P14316,Q6IAS7 Hs.654566 DKFZp686F0244|IRF-2 OTTHUMP00000218576|OTTHUMP00000218580|interferon regulatory factor 2 protein-coding 1318010 IRF2BP1 interferon regulatory factor 2 binding protein 1 18511908,17121613,14702039,12799427,12477932,11067960,9373149,8125298,18671972 26145 AC008623,AJ305209,CH471126,AK092407,AK223622,AK315060,AL080159,AY278022,BC005834,BC038222,BC039002,BC078181,NM_015649,CR623029 NP_056464,CAC43219,EAW57396,BAD97342,BAG37535,CAB45750,AAP78943,AAH05834,AAH38222,AAH39002,AAH78181,Q8IU81 Hs.515477 DKFZp434M154 IRF-2-binding protein 1|interferon regulatory factor 2-binding protein 1 protein-coding 1603839 IRF2BP2 interferon regulatory factor 2 binding protein 2 This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 20702774,18029348,17121613,15302935,14702039,12799427,12477932 359948 NM_182972,NM_001077397,AL160408,AL161640,CH471098,AK054864,AK056930,AY278023,AY278024,BC020516,BC041989,BC053539,BC065759,BE408503,CD640986,CR600231,CR624437 NP_892017,NP_001070865,CAI22767,CAI22768,EAW69996,AAP78944,AAP78945,AAH20516,AAH65759,Q7Z5L9,AAI60054 Hs.350268 MGC72189 IRF-2-binding protein 2|interferon regulatory factor 2-binding protein 2 protein-coding 1344104 IRF3 interferon regulatory factor 3 IRF3 encodes interferon regulatory factor 3, a member of the interferon regulatory transcription factor (IRF) family. IRF3 is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. [provided by RefSeq] 1580863 20501320,19858727,20711230,16988763,16984921,16940530,16585524,16537515,16513254,16501100,16394098,16344560,16199137,16189514,16182584,16154084,16153868,15955070,15919920,15767394,15764595,15761153,15695821,15510218,15489334,15452220,15303122,15251447,15220448,15107417,14982987,14747536,14747533,14739303,14703513,14702039,14557267,14555996,14555995,14517278,12883638,12829839,12829834,12702806,12582166,12524442,12477932,12473110,12354379,11972054,11940575,11907205,11884139,11846977,11724783,11303025,11162841,11124948,11035028,10920266,10805757,10521456,10492399,9865487,9803267,9566918,9488451,9463386,17182689,18636086,15502848,9649509,15315758,8524823,15276183,12692549,19434718,19258923,19239434,19213861,19211751,19201840,19153595,19152337,19124752,19038458,19028691,19017982,19012493,18927075,18818105,18781139,18713996,18711448,18676680,18641315,18635538,18579584,18539711,18450748,18440553,18362887,18272581,18272195,18252870,18216110,18203148,18082865,18029348,17761676,17703412,17652396,17641046,17626075,17608743,17560375,17540767,17526488,17449641,17393359,17328045,17251580,17215277,17142768,17126870,17121613,17079482,20418377,20933442,12138184,16143103,16362036,17823124,19170196,19349300,19380831,19426920,19445677,19515829,19553679,19625176,19646728,19692168,19701189,19706707,19710021,19854139,19890046,19955181,19956647,20048147,20048166,20154210,20308324,20331378,20351107,20360684,20381110,20483755,20485298,20503287,12604599,20211142,20826620,19826915,15342556,20511230,20631144,20980500,21084487,19913121,20628086 3661 NM_001571,AC011495,AF112181,CH471177,U86636,AB102884,AB102886,AB102887,AK057577,AK292027,AK314421,BC000660,BC009395,BC071721,BM477213,CB961512,CR590897,CR596241,CR608119,CR613061,CR613940,CR615920,CR624964,Z56281,BP347627,BU859806,DA999381,HM357932,HM357933,HM357934,HM357935,HM357936,HM357937,NM_001197122,NM_001197123,NM_001197124,NM_001197125,NM_001197126,NM_001197127,NM_001197128 NP_001562,AAD05262,EAW52510,EAW52511,EAW52512,EAW52513,AAC68818,BAD89413,BAD89415,BAD89416,BAF84716,BAG37040,AAH00660,AAH09395,CAA91227,Q14653,Q5FBY1,Q5FBY2,Q5FBY4,Q71U93,Q7Z5G6,Q96GL3,ABM84381,ABM87305,AAH71721,ADN86147,ADN86148,ADN86149,ADN86150,ADN86151,ADN86152,NP_001184051,NP_001184052,NP_001184053,NP_001184054,NP_001184055,NP_001184056,NP_001184057 Hs.75254,Hs.289052 IRF-3|interferon regulatory factor 3 protein-coding 1317594 IRF4 interferon regulatory factor 4 1600211,1580863 19396635,19340012,19144381,19047678,18987657,18962896,18758461,18483556,18417578,18235046,18231914,17952075,17768115,17690696,17502719,17296585,17150500,17121613,16272311,16236719,16189514,15829558,15489334,15242870,14574404,12920225,12676954,12566414,12477932,12372320,12218129,11956291,11846984,11749693,11342629,10714679,8921401,12374808,18029348,20211142,20568250,20731705,20855867,18815567,19448593,19656156,19787248,19925052,10601358,10453013,10196196,10022840,9326949,8657101,20123861,19573080,19604093,19710684,19717648,19773279,19812605,19897031,19955181,20054341,20090783,20190752,20332261,20408839,19804451,20553269,20585627,20587610,20602913,20647408,20674401 1600211 3662 NM_002460,AL365272,AL512308,AL589962,CH471087,U52683,AK130762,AK310149,BC015752,D78261,U52682,U63738,AW197089,BG230623,BM551611,CR977713,NM_001195286,NR_036585,NG_027728 NP_002451,CAH72537,CAH71554,EAW55056,EAW55057,EAW55058,EAW55059,EAW55060,AAH15752,BAA11335,AAC50779,AAB37258,Q15306,Q99419,ABM84398,ABM87301,NP_001182215 Hs.401013 LSIRF|MUM1 IRF-4|NF-EM5|interferon regulatory factor 4|lymphocyte-specific interferon regulatory factor|multiple myeloma oncogene 1 protein-coding 1321354 IRF5 interferon regulatory factor 5 This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative splice variants encoding different isoforms exist. [provided by RefSeq] 1580863 18824541,18752149,18668568,18579578,18505922,18438842,18408250,18332133,18323517,18311811,18288123,18285424,18260169,18204446,18204098,18200047,18063667,18050197,17881657,17703412,17609264,17599733,17568788,17557928,17476532,17412832,17393452,17389033,17189288,17166181,17158136,17133578,17121613,16642019,15805103,15695821,19479858,19258923,19228650,19129183,19116937,19092842,19028697,19019891,18843785,18843782,15665823,15657875,15556946,15489334,15308637,14559832,12690205,12600985,12477932,12138184,11997525,11846976,11303025,9865487,20211142,20797713,20848568,20861858,20861862,20881011,20935208,20962850,20973039,20980283,21040166,20453440,19043711,19430534,19565491,19567624,19644876,19644887,19758313,19778284,19786094,19816589,19838193,19851296,19854706,19877059,19918036,20015215,20049410,20080916,20090783,20112383,20127100,20131273,20137629,20197570,20198315,20231204,20237317,20351107,20383147,20439292,20453842,20479942,20503287,19913121,20588308,20616560,20628086,20639879,20639880 3663 NM_001098630,NM_032643,NM_001098627,NG_012306,AC025594,CH236950,CH471070,EF064718,AK293654,NM_001098629,AK297083,AL713733,AY504946,AY504947,AY693665,AY693666,AY693667,AY693668,AY693669,BC004139,BC004201,BU540632,BU950658,CR610038,DC427600,DQ277633,DQ277634,EU258895,EU258896,EU258897,EU258898,U51127 NP_001092099,NP_001092100,NP_116032,NP_001092097,EAL24107,EAL24108,EAW83703,EAW83704,EAW83705,EAW83706,EAW83707,ABK41901,BAH11558,BAG59600,AAR90325,AAR90326,AAU12877,AAU12878,AAU12879,AAU12880,AAU12881,AAH04139,AAH04201,ABB88960,ABB88961,ABX54712,ABX54713,ABX54714,ABX54715,AAA96056,Q13568,Q1A7B4,Q64GA8,Q64GA9,Q64GB0,Q64GB1,Q64GB2,Q6RCM8,ABM84563,ABW03485 Hs.521181 SLEB10 IRF-5|OTTHUMP00000212907|interferon regulatory factor 5 protein-coding 1320095 IRF6 interferon regulatory factor 6 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. This protein is involved in palate formation. [provided by RefSeq] 1580863,1600214 19536891,19527266,19419265,19388848,19270707,19115793,19036739,18978678,18836445,18813858,18798331,18506368,18452891,18278815,18247422,18212048,18209213,17937438,17702008,17551329,17549393,17438386,17318851,17122170,17041603,16998136,16710414,16211254,16160700,16132054,16049006,15994871,15647839,15489334,15317890,15300989,15013698,14757865,14618417,12964020,12920575,12477932,12219090,10645953,10593995,5317890,3812594,11544322,19780991,20211142,20848922,21039277,14640113,19734457,19842205,19929101,19937600,20023658,20032603,20121942,20424325,20436469,20544801,19282774,19372376,19449419,19536562,20803643,20564431,20572854,20634891,20652317,20672350,20799332 1600214 3664 NM_006147,NG_007081,AL022398,CH471100,AF027292,AK296960,AK312857,BC014852,BI770148,CR601385 NP_006138,CAA18545,CAI95692,EAW93438,EAW93439,AAB84111,BAG59504,BAG35709,AAH14852,O14896 Hs.719361 LPS|OFC6|PIT|PPS|VWS IRF-6|OTTHUMP00000034678|interferon regulatory factor 6 protein-coding 1317251 IRF7 interferon regulatory factor 7 IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. [provided by RefSeq] 1580863 9315633,9786932,19152337,19017798,18987133,18710948,18635538,18539711,18505922,18397234,18227218,17522209,17404045,17393359,17374731,17121613,17079482,16778376,16344560,16341674,16237059,15695821,15664995,15361868,15308637,15265881,14759258,14747533,14517278,12915551,12604599,12539042,12374802,11884139,11877397,11846980,11162841,11124948,11073981,11031102,10924517,9865487,9660935,15664159,20668674,20689596,19858727,20962850,12477932,12692549,14739303,14968112,15251447,15767370,16153868,17823124,19349300,19404407,19426920,19515829,20112359,20154210,20331378,20381110,20392859,20483755,15276183,20209099,16484229,20810735,20844090,20980500,21084487,19880818,20588308,20628624 3665 NM_004029,NM_001572,NM_004031,AF277159,AP006284,CH471158,AF076494,AK303752,BC136555,BC144242,BM849172,DA601567,DA967682,U53830,U53831,U53832,U73036 NP_004020,NP_001563,NP_004022,AAG30003,EAX02355,EAX02356,EAX02357,EAX02358,EAX02359,EAX02360,AAC70999,BAG64723,AAI36556,AAB80686,AAB80688,AAB80690,AAB80691,AAB17190,Q92985,Q9HB64 Hs.166120 IRF-7H|IRF7A IRF-7|OTTHUMP00000162886|OTTHUMP00000162888|interferon regulatory factor 7|interferon regulatory factor-7H protein-coding 1351360 IRF8 interferon regulatory factor 8 Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq] 20435892,20573402,16918696,16914719,16886895,16504056,16484229,15837792,15761153,15489334,15489234,15371411,12477932,11997525,10991940,10734131,10102295,10092656,9742224,7768900,8550813,20980339,1460054,8861914,19542426,19525953,19074829,18922617,18701018,18596738,18580679,18469857,18316378,18246201,18195016,17687331,17386941,17200120,17121613,12904288,17579016,18029348,19801548,19865102,19879194,20062064,20201926,20430450,21131588,20634887,20679491 3394 NM_002163,AC092723,CH471114,AA232881,AI307662,AK313524,BC126247,BF110315,BG107396,BI835080,CB214983,CR599608,M91196 NP_002154,EAW95435,BAG36304,AAI26248,AAB63813,Q02556 Hs.137427 H-ICSBP|ICSBP|ICSBP1|IRF-8 interferon consensus sequence binding protein 1|interferon consensus sequence-binding protein|interferon regulatory factor 8 protein-coding 1318730 IRF9 interferon regulatory factor 9 1580863 20964804,20211142,20980339,17923090,1630447,19258923,18456457,18370868,17703412,17559358,17121613,16849320,16689942,16595158,16318580,15714000,15668228,15489334,15194680,15093743,14702039,12693554,12509459,12477932,12060499,11997525,11846981,10860992,10702714,10199920,9417904,9242679,8943351,8454630,7829101,8550813,18029348,19604093,19752753,20331378,20389019,20503287,20634891,17351669 10379 NM_006084,AL136295,CH471078,G13571,AK295467,AK308347,BC035716,BI497082,BI919023,CR596057,CR602478,CR603020,CR609755,CR610511,CR619285,M87503,U92994 NP_006075,EAW66092,EAW66093,EAW66094,BAG58398,AAH35716,AAA58687,A0A962,Q00978,ABZ92221 Hs.1706 IRF-9|ISGF3|ISGF3G|p48 IFN-alpha-responsive transcription factor subunit|ISGF-3 gamma|ISGF3 p48 subunit|OTTHUMP00000164692|interferon regulatory factor 9|interferon-stimulated gene factor 3 gamma|interferon-stimulated transcription factor 3, gamma (48kD)|interferon-stimulated transcription factor 3, gamma 48kDa|transcriptional regulator ISGF3 subunit gamma 2315792 GLUCO171_H protein-coding 2292071 IRG1 immunoresponsive 1 homolog (mouse) 730249 XM_001133269,AC000403,AC001226,CH471093 XP_001133269,EAW80560,A6NK06 immune-responsive gene 1 protein homolog|immunoresponsive 1 homolog (mouse) protein-coding 1606259 IRGC immunity-related GTPase family, cinema 12477932,20237496 56269 NM_019612,AC005622,CH471126,BC033853,BC066939,HC007054,HC044623 NP_062558,AAC34467,EAW57221,EAW57222,AAH33853,AAH66939,Q6NXR0,CBH19332,CBH30641 Hs.515444 CINEMA|IRGC1|Iigp5|R30953_1 immunity-related GTPase cinema 1|immunity-related GTPase family, cinema 1|interferon inducible GTPase 5|interferon-inducible GTPase 5 protein-coding 1601797 IRGM immunity-related GTPase family, M Members of the p47 immunity-related GTPase (IRG) family, including IRGM, play an important role in the murine immune system; however, in humans this resistance system is greatly reduced. There is evidence that human IRGM plays a role in autophagy and control of intracellular mycobacteria (Bekpen et al., 2005; Singh et al., 2006 [PubMed 16888103]).[supplied by OMIM] 21102437,21102463,19491842,19422935,19266026,19174780,19165925,19098858,18985712,18936107,18587394,18580884,18438406,17921695,17554300,17554261,16888103,16277747,14576437,12477932,7561525,19120485,19683022,19750224,20024904,20106866,20360734,20395867,20547146,20210993,19760754,20886065,20962850,21049557,21072187 345611 NG_027809,NM_001145805,AC010441,FJ824056,BC038539,BC128167,BC128168,EU742619 NP_001139277,ACO88909,AAI28168,AAI28169,ACF21844,A1A4Y4 Hs.519680,Hs.652148 IFI1|IRGM1|LRG-47|LRG47|MGC149263|MGC149264 LPS-stimulated RAW 264.7 macrophage protein 47 homolog|LRG-47-like protein|immunity-related GTPase M|immunity-related GTPase family M protein|immunity-related GTPase family M protein 1|immunity-related GTPase family, M1|interferon-inducible protein 1 protein-coding 1606733 IRGQ immunity-related GTPase family, Q 17353931,15146197,14702039,12477932,8889548,19773279 126298 NM_001007561,AC006276,CH471126,AF322648,AK022583,AK096168,AK124786,AK128554,BC137020,BC137021,BM669904,CN315405,BC144451 NP_001007562,EAW57205,AAL33884,BAC85949,BAC87498,AAI37021,AAI37022,Q6ZR23,Q6ZVB3,Q8WZA9,AAI44452 Hs.6217 FKSG27|FLJ12521|FLJ38849|FLJ42796|FLJ46713|IRGQ1 immunity-related GTPase family Q protein|immunity-related GTPase family, Q1 protein-coding 733473 IRS1 insulin receptor substrate 1 728920,2302071,1624973,1624974,1624975,1580863,1580595,1581310,1581313 16367885,16354680,16284649,16284438,16233930,16230374,16131083,16129690,16129678,16128672,16127460,16084882,16037106,16030120,16020478,15985484,15965906,15940190,15926113,15849359,15802620,15781195,15759454,15705377,15678496,15665022,15636429,15634339,15629149,15604215,15592455,15590636,15588985,15582274,15581831,15561966,15561965,15489334,15474880,15364919,15324660,15318176,15316008,15308584,15247132,15240653,15222685,15209769,11147812,11120660,11063744,11035789,11006284,10856136,10843189,10722755,10679027,10660596,10497255,10455176,10417350,10411883,10206679,9837978,9822703,9792713,9756938,9748281,9422753,9415396,9312143,9174053,9111084,8810325,8732688,8723689,8662806,8633037,8631859,15161794,15155816,15127203,15069075,15044323,15003536,15001544,14988278,14966273,14707024,14693412,14671192,14668342,14642408,14633864,14604996,14602724,14583092,14559999,12960006,12934392,12910680,12843189,12821935,12819898,12765939,12763374,12732844,12679424,12624099,12606535,12588284,12565902,12560071,12554758,12524443,12510059,12493740,12477932,12477526,12475767,12417588,12414625,12409308,12370850,12358865,12354757,12351658,12228220,12220227,12213887,12173038,12107745,12031982,12006586,11978177,11877394,11874945,11872698,11775217,11739394,11694888,11606564,11522686,11317670,11289056,11287026,11208867,11162588,8626671,8621590,8599766,8557683,8550573,8530377,8505282,8349691,8240352,8104271,8020946,7935386,7559507,7542745,7499365,7499194,7488107,1381348,9843575,8536716,8491186,11912194,11969417,11579209,12730242,12107746,9492017,8626379,10082579,8776723,8621530,11287630,11604231,15778465,9202037,10026153,8524391,7935368,11172806,20363874,15516986,15522123,20538960,20730618,20738937,20824664,20855565,20977583,7537849,7559478,7541045,7782332,16043515,8388384,9295312,11018022,1311924,8513971,1648180,16814735,17925406,15182363,12167717,19453261,19420105,19418728,19391107,19375584,19261680,19140314,19124510,19117011,19053277,19038974,18996102,18992263,18992148,18952604,18851963,18834857,18716398,18710329,18676680,18663085,18660489,18642444,18615538,18615395,18611262,18498745,18398029,18316360,18305032,18285345,18264722,18222120,18216326,18208559,18059035,17914103,17908691,17905199,17898946,17868644,17827393,17827156,17721885,17719609,17647275,17640984,17638892,17591841,17575262,17570749,17465001,17459875,17446166,17443311,17416760,17374994,17361103,17360977,17332342,17279354,17222824,17222321,17179152,17124363,17081983,17075427,17068339,17051426,17046546,17044098,17030631,17030605,17020651,16970908,16914728,16752222,16648810,16603055,16522427,16516141,16489531,16448675,16418171,12660731,14968112,15572028,16582879,17721511,18521741,19170196,19259821,19328476,19447894,19557384,19561084,19578796,19625176,19639489,19671924,19692168,19716569,19730683,19734900,19803812,19843326,19843521,19926323,19956100,20012307,20170352,20176643,20207740,20210696,20229450,20384434,20416077,20416304,20437058,20437825,20452482,20453000,20490451,20540360,20540670,19924529,20351777,16734387,20581827,20685959,19913121,20571754,20602615,20628086,20634197,20673868,20682687 728920,2302071,1624973,1624974,1624975,1580595,1581310,1581313 3667 NM_005544,AC010735,CH471063,S85963,AW469017,BC053895,S62539,NG_015830,HC477893 NP_005535,EAW70838,EAW70839,AAB21608,AAH53895,AAB27175,P35568,ACE87211,ACE86532,CBL64020 Hs.471508 HIRS-1 IRS-1|insulin receptor substrate 1 2289299,2289306,2289315,2289332 BW375_H,BW373_H,BW374_H,BW376_H protein-coding 736204 IRS2 insulin receptor substrate 2 This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq] 1625023,1580863,2302071,1625025,1331525,1299201,1580595 9535722,9334184,9312143,9295312,9195949,9113989,8954948,8938433,8910607,8732688,8662806,8626379,8621590,8550573,12660731,19259821,19377890,19447894,19509476,19604268,19690174,19755487,19818665,19875459,19878940,19887537,19926323,19929986,20184486,20210696,20354165,20416077,20416304,7675087,9495343,16814735,17925406,12167717,19332049,19190347,19124510,19109239,19038974,18992263,18802016,18660489,18611262,18506362,18079194,18059035,17914103,17901049,17898946,17416760,17374994,17361103,17353931,17222321,17081983,17068339,17051426,17030631,16964243,16839840,16652127,16489531,16448675,16150916,16127164,16086274,16030120,15940190,15926113,15811564,15678496,15588985,15514089,15324660,15316008,15308584,15302935,15292987,15247132,15155816,15127203,15123681,15057823,14978080,14653106,14604996,14534541,12960006,12821935,12765968,12732844,12687350,12554758,12519871,12493740,12477932,12475767,12379806,12228220,12213887,12198247,12189449,12107746,12052866,11872698,11641236,11600548,11522686,11505033,11481324,11147812,11054408,11030756,10856136,10679027,10594015,10480623,10417350,10077005,9852124,9651378,9651339,9648831,9609109,7876077,7559579,7499365,11912194,15778465,20685959,19913121,20628086,20634197 1625023,2302071,1625025,1331525,1299201,1580595 8660 NM_003749,NG_008154,AB000732,AB050954,AF074850,AF080254,AF288517,AF322114,AF322115,AF385932,AF385933,AL162497,AF073310,AF161416,BC012414,BC026044,BC042858,BC063516,BC110638,CA416129,CA952668,CR615148 NP_003740,BAA24500,BAB84688,AAD50546,AAD55239,AAK83053,AAG50013,AAK66750,AAK66751,CAH72369,AAD21531,AAF28976,Q8TF73,Q96RG4,Q96RG5,Q9P084,Q9UP29,Q9Y4H2 Hs.442344 IRS-2 insulin receptor substrate 2 1643276,1643297,1643588,2314799 BW200_H,BW204_H,GLUCO4_H,GLUCO116_H protein-coding 1606062 IRS3L insulin receptor substrate 3-like 14702039,12488959,12477932,9799793,20226764 442338 NG_005538,AC069281,AF053356,CH236956 IRS3L pseudo 1352224 IRS4 insulin receptor substrate 4 IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq] 1580863 9261155,9553137,19029952,18660489,18165436,17965023,17408801,15870689,15331607,15324660,15316024,15155816,12774026,12732844,12639902,12052866,11912194,11316748,10594015,9614078,9609109,19913121,20628086,14968112,17215244,17720279,20416304 8471 NM_003604,AL035425,CH471120,AF007567,NG_013239 NP_003595,CAB90290,EAX02682,AAC51738,O14654,AAI56189,AAI56978 Hs.460872 IRS-4|PY160 160 kDa phosphotyrosine protein|insulin receptor substrate 4|phosphoprotein of 160 kDa|pp160 protein-coding 1349465 IRX1 iroquois homeobox 1 IRX1 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM] 1580863 19240061,18559491,18421076,15489334,12477932,11435706,10370142,8889548,20029986,20306291,20440264 79192 AC016595,AY335947,CH471102,AY335938,BC029160,U90307,NM_024337 NP_077313,AAQ16553,EAX08131,AAQ16544,AAH29160,AAB50005,P78414,AAI66635 Hs.424156 IRX-5|IRXA1 homeodomain protein IRXA1|iroquois homeobox protein 1|iroquois-class homeodomain protein IRX-1 protein-coding 1606345 IRX1P1 iroquois homeobox 1 pseudogene 1 646390 NG_009487,AL391560 pseudo 1346652 IRX2 iroquois homeobox 2 IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM] 1580863 18421076,16752383,12477932,11435706,10370142,8889548,15133517 153572 NM_033267,NM_001134222,AC091891,AF319967,AY335939,CH471102,AB188492,AI131378,AI928035,AY335940,BC065189,BM969863 NP_150366,NP_001127694,AAK01202,AAQ16545,EAX08136,BAD37140,AAQ16546,AAH65189,Q9BZI1 Hs.282089 IRXA2 homeodomain protein IRXA2|iroquois homeobox protein 2|iroquois-class homeodomain protein IRX-2 protein-coding 1316613 IRX3 iroquois homeobox 3 IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM] 1580863 19240061,15489334,12477932,10370142,9427753,20080751 79191 NM_024336,AC018553,AY335942,CH471092,AK309146,AY335943,BC023667,BC034328,U90308 AAH23667,NP_077312,AAQ16548,EAW82815,AAQ16549,AAH34328,AAB50006,P78415,Q8N4G7,ABM82934,ABW03467 Hs.499205 FLJ99187|IRX-1|IRXB1 homeodomain protein IRXB1|iroquois homeobox protein 3|iroquois-class homeodomain protein IRX-1|iroquois-class homeodomain protein IRX-3 protein-coding 1319589 IRX4 iroquois homeobox 4 1582289,1580863 19913121,20628086,10625552,18497553,12477932,11382777,10370142 1582289 50805 NM_016358,AC025183,AY335941,CH471102,AF124733,AI566193,BC110912,BC136505,BC136506,BC144204,U90306 NP_057442,AAQ16547,EAX08138,EAX08139,AAF23887,AAI10913,AAI36506,AAI36507,AAB50004,P78413 Hs.196927 IRXA3|MGC131996 OTTHUMP00000220473|OTTHUMP00000220474|OTTHUMP00000220475|OTTHUMP00000220476|homeodomain protein IRXA3|iroquois homeobox protein 4|iroquois-class homeodomain protein IRX-4 protein-coding 1320389 IRX5 iroquois homeobox 5 IRX5 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM] 1580863 18519790,16527195,12477932,11435706,10370142,17396150 10265 HI574210,NM_005853,AC106738,AY335944,AY335945,BC074850,BC131510,U90304,U90309 CBX47594,NP_005844,AAQ16550,AAQ16551,AAI31511,AAB50002,AAB50007,P78411 Hs.435730 IRX-2a|IRXB2 homeodomain protein IRX-2A|homeodomain protein IRXB2|iroquois homeobox protein 5|iroquois-class homeodomain protein IRX-5 protein-coding 1344383 IRX6 iroquois homeobox 6 1580863 14702039,11435706,10370142,8889548,12477932 79190 NM_024335,AC109462,AF319966,AY335946,CH471092,AK125053,AK309149,AW449920,AY335937,BC136573,BC136576,BM667197 NP_077311,AAK01201,AAQ16552,EAW82822,EAW82823,BAC86033,AAQ16543,AAI36574,AAI36577,P78412,Q9BZI2 Hs.369907 IRX-3|IRX7|IRXB3 homeodomain protein IRXB3|iroquois homeobox protein 1-like|iroquois homeobox protein 6|iroquois homeobox protein 7|iroquois-class homeodomain protein IRX-6 protein-coding 1350652 ISCA1 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM] 15489334,15262227,15164053,14702039,12477932,9373149,9110174,8619474,8125298,20877624,19656490,19864422,20302570 81689 NM_030940,AL137849,CH471089,AA745613,AF038186,AF284752,AI436792,AK055643,AK225937,AK296093,AL834356,AY015642,BC002675,BC053900,BC071621,BG772866,CR604050,CR616889 NP_112202,CAI14924,CAI14925,CAI14926,EAW62712,EAW62713,AAG59854,BAG51546,BAG58847,CAD39021,AAG40950,AAH02675,AAH71621,Q5TBE2,Q5TBE9,Q9BUE6 Hs.449291 HBLD2|ISA1|MGC4276|RP11-507D14.2|hIscA HESB like domain containing 2|HESB-like domain-containing protein 2|OTTHUMP00000021592|hesb like domain containing 2|iron sulfur assembly protein IscA|iron-sulfur assembly protein IscA|iron-sulfur cluster assembly 1 homolog, mitochondrial protein-coding 1625835 ISCA1L iron-sulfur cluster assembly 1 homolog (S. cerevisiae)-like 20379614,20877624 389293 AC025477,NG_021247 ISCA1L pseudo 2881178 ISCA1P2 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 2 100288517 AL137793,NG_022828 pseudo 2881179 ISCA1P3 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 3 100131092 AC010767,NG_022956 pseudo 3563726 ISCA1P4 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 4 100128012 AC020661,NG_022952 pseudo 2946936 ISCA1P5 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 5 100288250 AC011477,NG_023026 pseudo 3003950 ISCA1P6 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 6 100130549 AC012451,NG_023024 pseudo 1319881 ISCA2 iron-sulfur cluster assembly 2 homolog (S. cerevisiae) 19913121,20628086,15489334,12477932,20877624 122961 NM_194279,AC005479,CH471061,AK290728,BC015771,BC032893,BX248252,CR606164 NP_919255,EAW81179,EAW81180,BAF83417,AAH15771,AAH32893,CAD62580,Q86U28 Hs.291079 HBLD1|ISA2|c14_5557 HESB-like domain-containing protein 1|HesB like domain containing 1|hesb like domain containing 1|iron-sulfur cluster assembly 2 homolog, mitochondrial protein-coding 3231816 ISCA2P1 iron-sulfur cluster assembly 2 homolog (S. cerevisiae) pseudogene 1 20031603 100287193 pseudo 1607067 ISCU iron-sulfur cluster scaffold homolog (E. coli) Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. [provided by RefSeq] 11256614,19567699,19808020,20877624,15489334,11060020,16527810,8875867,18425540,18304497,18296749,16517407,16344560,16091420,15342556,14702039,12477932,15778465,20498629 23479 CR607729,NM_213595,NG_011857,AC008119,CH471054,EU334585,FJ695196,AK000574,AK022758,AK057251,AK293202,AK297862,AY009127,AY009128,BC003522,BC011906,BC061903,BG621612,BI597126,BM423850,BM921073,BP378051,BQ002528,BQ020993,BU602914,CR604295,NM_014301,CR612054,CR621989,CR622204,DB095495,DB493673,EU329002,U47101 NP_055116,NP_998760,EAW97818,EAW97819,EAW97820,EAW97821,EAW97822,ACA52543,BAG51892,BAG56742,BAG60191,AAG37427,AAG37428,AAH11906,AAH61903,ACA34743,AAC50885,Q9H1K1,ABM87293,ABW03871 Hs.615131 2310020H20Rik|HML|ISU2|MGC74517|NIFU|NIFUN|hnifU IscU iron-sulfur cluster scaffold homolog|NifU-like N-terminal domain containing|iron-sulfur cluster assembly enzyme ISCU, mitochondrial|nifU-like N-terminal domain-containing protein|nifU-like protein|nitrogen fixation cluster-like protein-coding 3051017 ISCUP1 iron-sulfur cluster scaffold homolog (E. coli) pseudogene 1 100462833 AL445203,NG_022742 pseudo 1321144 ISG15 ISG15 ubiquitin-like modifier ISG15 is a ubiquitin-like protein that becomes conjugated to many cellular proteins upon activation by interferon-alpha (IFNA; MIM 147660) and -beta (IFNB; MIM 147640) (Zhao et al., 2005 [PubMed 16009940]).[supplied by OMIM] 1580863 20157543,17653289,17719635,19656964,19846672,19956859,20035788,20093371,20133869,20164219,20219937,20308324,19959962,20946978,20542004,18606809,18597038,18583345,18566215,18356159,18305167,18287095,17692280,17289916,17222803,17097911,17069755,16884686,16641915,16434471,16428300,16424026,16254333,16189514,16169070,16139798,16112642,16009940,15917233,15684817,15670748,15489334,15131269,14976209,12539042,12477932,12067988,12055236,11788588,11157743,10866800,10508226,16122702,19430494,19378789,19357168,19074853,19073728,19043203,18953482,18627608,10476939,8892645,8889548,8550581,7526157,7490683,3476954,3350799,3087979,2477469,2440890,2005397,1695131,1373138,17353931,19913121,20628086,20628624,18057259,20639253 9636 NM_005101,AL645608,CH471183,M21786,AY168648,BC009507,BM712238,BT007297,BU161226,M13755 NP_005092,CAI15574,EAW56295,AAA36128,AAN86983,AAH09507,AAP35961,AAA36038,P05161,ABM83640,ABW03539 Hs.458485 G1P2|IFI15|IP17|UCRP|hUCRP interferon, alpha-inducible protein (clone IFI-15K)|interferon, alpha-inducible protein (clone ifi-15k)|interferon-induced 15 kDa protein|interferon-induced 17 kDa protein|interferon-induced 17-kDa/15-kDa protein|interferon-stimulated protein, 15 kDa|ubiquitin cross-reactive protein|ubiquitin-like protein ISG15 protein-coding 1315002 ISG20 interferon stimulated exonuclease gene 20kDa 11401564,9569007,12594219,9235947,15527770,15489334,12539042,12477932,9605874,18278447,21036379 3669 NM_002201,AC104259,CH471101,AB209639,AK307769,BC007922,BC016341,BT006952,CR456942,CR619922,CR625782,U88964,X89773 NP_002192,EAX02013,EAX02014,EAX02015,EAX02016,BAD92876,AAH07922,AAH16341,AAP35598,CAG33223,AAB53416,CAA61915,Q59F22,Q96AZ6 Hs.459265 CD25|HEM45 estrogen-regulated transcript 45 protein|interferon-stimulated gene 20 kDa protein|promyelocytic leukemia nuclear body-associated protein ISG20 protein-coding 1601738 ISG20L2 interferon stimulated exonuclease gene 20kDa-like 2 18065403,16710414,16189514,15489334,14702039,12477932,12429849,18029348,17474147,19060904 81875 BC000575,NM_030980,AL590666,CH471121,AK021901,AK022733,AK095697,AL096734,AY391837 AAS55433,AAH00575,Q9H9L3,NP_112242,CAI16341,EAW52919,EAW52920,BAB14212 Hs.301904 FLJ12671 OTTHUMP00000038734|interferon-stimulated 20 kDa exonuclease-like 2 protein-coding 736062 ISL1 ISL LIM homeobox 1 This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq] 2311117,2311116 7912209,15843409,19571884,18583962,18454440,18239644,18081024,20211142,21060249,17519333,17363077,17022998,16873704,16713999,16321656,15839736,15489334,15161765,12477932,11882901,11043578,10431247,9849969,9452425,9000074,8889548,8565076,7907017,7789634,1685766,19619559,19896915,20306291,20520780,20807224 2311117,2311116 3670 NM_002202,AC010478,CH471123,AK290742,BC017027,BC031213,BM680522,S70721,U07559,NG_023040 NP_002193,EAW54861,BAF83431,AAH31213,AAD14064,AAA81946,P61371,ABM82484,ABM85672,ABW03420 Hs.505 ISLET1|Isl-1 ISL1 transcription factor, LIM/homeodomain|OTTHUMP00000221834|insulin gene enhancer protein ISL-1|isl1 transcription factor, lim/homeodomain 1|islet-1 2289466 SLEP14_H protein-coding 732662 ISL2 ISL LIM homeobox 2 1580863 17091338,15489334,15302935,14702039,12477932,9452425 64843 NM_145805,AC027243,CH471136,AK001022,BC011967,BC012136,CR610026 NP_665804,EAW99220,BAG50849,AAH11967,AAH12136,Q96A47,ABZ92375 Hs.444677 FLJ10160 ISL2 transcription factor, LIM/homeodomain, (islet-2)|insulin gene enhancer protein ISL-2|islet-2 protein-coding 1602010 ISLR immunoglobulin superfamily containing leucine-rich repeat 9325048,12975309,12477932,10512678,9373149,8125298 3671 NM_005545,NM_201526,AB024537,AC023545,CH471136,CQ783558,AB003184,AB024536,AK000817,AK074668,AK223267,AK225606,AY358871,BC022478,BC111013,CR592993,CR620951 NP_005536,NP_958934,BAA85971,EAW99357,EAW99358,CAF86725,BAA22848,BAA85970,BAG51985,BAD96987,AAQ89230,AAH22478,AAI11014,O14498,ABW03651,ABW03652,ABW03309 Hs.710506,Hs.699822 HsT17563|MGC102816 immunoglobulin superfamily containing leucine-rich repeat protein protein-coding 1605977 ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2 16344560,14702039,12975309,12477932,10819331 57611 NM_001130136,NM_001130137,NM_001130138,NM_020851,AC010931,CH471136,AB040898,AK092297,AK092302,AK096602,AK290467,AY358316,BC028042,BC114551,BC152429,BI917487,DA791954,DA911394 EAW99359,NP_001123608,NP_001123609,NP_001123610,NP_065902,EAW99360,EAW99361,BAA95989,BAG52525,BAG52527,BAG53336,BAF83156,AAQ88682,AAI14552,AAI52430,Q24JQ5,Q6UXK2,AAI69327 Hs.254775 KIAA1465 immunoglobulin superfamily containing leucine-rich repeat protein 2|leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein protein-coding 1351413 ISM1 isthmin 1 homolog (zebrafish) 16344560,15489334,12477932,12128218,11780052,19915575 140862 NM_080826,AL050320,AL133463,AK307409,BC017997,BQ771595,CR982468,DB169194,DB202450 NP_543016,CAC36074,CAC16127,AAH17997,B1AKI9 Hs.559353 C20orf82|ISM|Isthmin|bA149I18.1|dJ1077I2.1 OTTHUMP00000030295|isthmin-1 protein-coding 1603577 ISM2 isthmin 2 homolog (zebrafish) The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 16344560,16303743,15194193,14702039,12477932,7687569 145501 HC007338,NM_182509,NM_199296,AF111168,CH471061,AJ583024,AK056709,AK075445,AK291600,AK300214,BC033140,BC101019,BC101020,BC101021,BC101022,BX248277,BX248280,BX248770,BX248771,CR591527,CR593679,CR597238,CR601544,CR604661,CR606304,CR606820,CR609209,CR615195,CR618365,CR621416,CR749863,DB025298,R93324 CBH19474,Q6H9L7,Q86TQ6,NP_872315,NP_954993,AAD09622,EAW81293,EAW81294,EAW81295,EAW81296,CAE47313,BAG51795,BAC11626,BAF84289,BAG61982,AAH33140,AAI01020,AAI01021,AAI01022,AAI01023,CAD62605,CAD62608,CAD66577,CAD66578,CAH18707 Hs.29742 DKFZp686E0215|FLJ32147|MGC119416|TAIL1|THSD3 isthmin-2|thrombospondin and AMOP containing isthmin-like 1|thrombospondin and AMOP domain-containing isthmin-like protein 1|thrombospondin type-1 domain-containing protein 3|thrombospondin, type I domain-containing 3|thrombospondin, type I, domain containing 3 protein-coding 1347473 ISOC1 isochorismatase domain containing 1 737633 14561759,18566572,15489334,12477932,10810093 737633 51015 NM_016048,AC008679,CH471062,AF151869,AK025787,BC008367,BC014105,BG715081,CR623281 NP_057132,EAW62386,AAD34106,AAH08367,AAH14105,Q96CN7,Q9Y3B5,ABM83152,ABM86353 Hs.483296 CGI-111 OTTHUMP00000223221|isochorismatase domain-containing protein 1 protein-coding 1350867 ISOC2 isochorismatase domain containing 2 737633 15231747,17658461,15489334,15342556,14718380,14702039,12477932,16169070,17207965 737633 79763 NM_001136202,NM_024710,NM_001136201,AC008735,AC135592,AY207046,CH471135,CS072409,AK027122,AK131324,AK311540,BC017344,BP226043,CR457377,CR597494,CR608760,CR609552,CS463826 NP_001129674,NP_078986,NP_001129673,EAW72379,EAW72380,EAW72381,EAW72382,EAW72383,CAI93547,BAB15666,BAD18484,AAH17344,CAG33658,Q96AB3,CAM12696,ADQ33205 Hs.467306 FLJ18582 isochorismatase domain-containing protein 2, mitochondrial protein-coding 3160581 ISPD isoprenoid synthase domain containing 10737800,11181995,12690205,20379614,9847074,19913121,20628086 729920 AC004741,AC006035,AC073629,AC079155,AK124805,BE092109,CH236948,CH471073,DT932748,DY654823,NM_001101417,NM_001101426 A4D126,BAC85954,EAL24288,EAW93668,NP_001094887,NP_001094896,Q6ZVA8 Hs.636502 FLJ42815|Nip|hCG_1745121 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein|4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog|isoprenoid synthase domain-containing protein|notch1-induced protein protein-coding 1605896 ISX intestine-specific homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq] 18093975,12477932 91464 NM_001008494,AL024494,CH471095,Z83853,AB219123,AK025181,BC112212,BC113633,CR749372 NP_001008494,CAI19818,EAW60047,CAI18752,BAG12059,AAI12213,AAI13634,CAH18225,Q2M1V0,ACE87562,ACE86874,ADR82886 Hs.567637 DKFZp781N2395|MGC138417|Pix-1|RAXLX OTTHUMP00000198816|RAX-like homeobox|intestine-specific homeobox|pancreas-intestine homeodomain transcription factor protein-coding 1606526 ISY1 ISY1 splicing factor homolog (S. cerevisiae) 18029348,16103217,15489334,14702039,12477932,11991638,10574461 57461 NM_020701,AC108673,AK024035,BC004122,BC004442,BC007409,BC019849,CR614909,BG282120,NM_001199469 AAH04442,AAH07409,AAH19849,Q9ULR0,NP_065752,NP_001186398 Hs.512661 KIAA1160|fSAP33 OTTHUMP00000219427|functional spliceosome-associated protein 33|pre-mRNA-splicing factor ISY1 homolog protein-coding 1605077 ISYNA1 inositol-3-phosphate synthase 1 Myoinositol, the most common naturally occurring form of inositol, is a component of plasma membrane phospholipids and functions as a cell signaling molecule. ISYNA1 (EC 5.5.1.4), or IPS, is a rate-limiting enzyme that catalyzes the de novo synthesis of myoinositol 1-phosphate from glucose 6-phosphate (Seelan et al., 2004 [PubMed 15464731]).[supplied by OMIM] 15464731,15024000,14702039,12941308,12477932,16169070,16344560 51477 AC008397,AF220259,CH471106,AF086921,AF207640,AF220530,AK001325,AK021526,AK092179,AK092433,AK093461,AK296022,AL137749,BC004320,BC018952,BC066902,NM_016368,CR599696,CR600268,CR606285,CR606341,AI983065,BP392170,DB056699,DC371373,NM_001170938,NM_001170939 NP_057452,AAF26739,EAW84703,EAW84704,EAW84705,EAW84706,AAP97151,AAG35698,AAF26444,BAA91626,BAB13837,BAG52493,BAG52722,BAH12239,CAB70904,AAH04320,AAH18952,AAH66902,Q9NPH2,ABM84391,ABM87335,NP_001164409,NP_001164410 Hs.405873 INO1|INOS|IPS IPS 1|MI-1-P synthase|MIP synthase|hINO1|hIPS|inositol-3-phosphate synthase 1|myo-inositol 1-phosphate synthase A1|myo-inositol-1-phosphate synthase protein-coding 1343086 ITCH itchy E3 ubiquitin protein ligase homolog (mouse) Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. The protein encoded by this gene interacts with atrophin-1. This encoded protein is a closely related member of the NEDD4-like protein family. This family of proteins are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. This encoded protein contains four tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. It can act as a transcriptional corepressor of p45/NFE2 and may participate in the regulation of immune responses by modifying Notch-mediated signaling. It is highly similar to the mouse Itch protein, which has been implicated in the regulation and differentiation of erythroid and lymphoid cells. [provided by RefSeq] 9647693,10940313,12450395,9462742,19343052,19341794,19116316,19096009,19090833,19073138,19016753,19001863,18805400,18718449,18718448,18701449,18628966,17947233,17115028,17110928,17038327,17028573,16888620,15946939,15703212,15678106,15489334,15469925,15051726,14602072,12477932,12226085,11826757,11782481,11780052,11356981,11318614,11046148,15013426,18544533,18334649,18559494,12682059,19131965,11244092,15778465,15252135,14559117,20491914,21093410,18029348,20682038,16387660,11526121,14684745,16055720,16901904,17110958,17463226,17592138,17719543,19580544,19592251,19615732,19881509,20068034,20143240,20170897,20395198,20300110 83737 AL109923,AL356299,CH471077,AB056663,AB209747,AF038564,AF095745,NM_031483,AK297809,AK304090,AK315212,BC006848,BC011571,DC307047,NG_023206 NP_113671,CAI21458,CAI21459,CAI17959,CAI17960,EAW76272,EAW76273,EAW76274,EAW76275,EAW76276,EAW76277,EAW76278,BAB39389,BAD92984,AAC04845,AAK39399,BAG60147,BAG64996,BAG37647,AAH06848,AAH11571,Q59ER4,Q96J02 Hs.632272 AIF4|AIP4|NAPP1|dJ468O1.1 E3 ubiquitin-protein ligase Itchy homolog|NFE2-associated polypeptide 1|atrophin-1 interacting protein 4|atrophin-1-interacting protein 4|dJ468O1.1 (atrophin 1 interacting protein 4 (AIP4))|itchy homolog E3 ubiquitin protein ligase|ubiquitin protein ligase ITCH protein-coding 735534 ITFG1 integrin alpha FG-GAP repeat containing 1 17384681,15489334,14702039,12598909,12477932,20379614 81533 NM_030790,AC007494,AC007533,AC007599,CH471092,AF212247,AF503339,AK027596,AK295228,AK299641,AK301908,AK309475,AL833705,BC006321,BC024162,CR606399,CR622193 ABM84440,NP_110417,EAW82698,EAW82699,AAG41782,AAN31655,BAB55220,BAG58221,BAG61564,BAG63334,AAH06321,AAH24162,Q8TB96,ABM87492 Hs.42217 CDA08|TIP 2310047C21Rik|T cell immunomodulatory protein|T-cell immunomodulatory protein|hypothetical protein cda08|integrin-alpha FG-GAP repeat-containing protein 1 protein-coding 1603635 ITFG2 integrin alpha FG-GAP repeat containing 2 12477932,17353931,16169070 55846 NM_018463,AC005841,CH471116,AF220048,AK027483,AK130319,AK291110,AK297189,AK300905,AY599883,BC006552,BC013399,CR611942,CR616872,CR621819,BI261823,BQ003916,BQ058412 NP_060933,EAW88886,EAW88887,AAF67641,BAB55145,BAF83799,BAG59678,BAG62541,AAT09136,AAH06552,AAH13399,Q6PKU5,Q969R8,Q9NZ46,ABM83637,ABM86889 Hs.446098,Hs.448720 MDS028 integrin-alpha FG-GAP repeat-containing protein 2 protein-coding 1345598 ITFG3 integrin alpha FG-GAP repeat containing 3 16381901,15489336,15489334,15146197,14702039,12477932,11230166,11157797,11076863,9054936,19862010,20379614 83986 AK294581,AK310766,AL136542,BC009214,BC010521,BC013047,BC032112,CN262982,CR619764,CR623171,NM_032039,AC004754,AE006462,CH471112,AK057165 BAG57772,CAB66477,AAH10521,AAH13047,AAH32112,Q96S31,Q9H0X4,CAL38523,NP_114428,AAK61219,AAK61220,EAW85844,EAW85845,EAW85846,EAW85847,EAW85848,EAW85849,BAB71374 Hs.513225 C16orf9|DKFZp761D0211|FLJ32603|gs19 OTTHUMP00000067160|chromosome 16 open reading frame 9|protein ITFG3 protein-coding 69006 ITGA1 integrin, alpha 1 This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq] 729264,2300381,2302120,2302133,1302875 8428973,18587047,18454440,18269595,18081024,18048918,17982677,17931993,17891451,17669516,17603494,17312461,16472776,16412752,16335952,16043429,15679046,15592458,15485856,15372022,15132990,15109703,12694973,14660600,12734939,12662928,12482545,12477932,12078857,12042322,11937138,11877061,11572855,11454259,11336656,11307375,10714390,10713152,10684262,10666376,10595787,10457223,10455165,10196235,10094488,9699516,9688542,9154536,9139675,8898357,8814241,8717325,8557756,8387021,7897185,7806264,7493648,3033641,2341567,2229189,2169872,2144294,2099238,1827128,1807406,1429908,16008586,3546305,1693624,1690718,20531279,20436081,14627618,16754661,18377961,18647959,18813796,19730683,19780039,19850917,20232313,19913121,20628086 729264,2300381,2302120,2302133,1302875 3672 X68742,NM_181501,NG_002793,AC022133,AC025180,AC026230,AC027326,AK300423,BC050277,BC137121,BC137122 AAI37123,P56199,NP_852478,BAG62150,AAI37122 Hs.644352 CD49a|VLA1 CD49 antigen-like family member A|VLA-1|integrin alpha 1|integrin alpha-1|laminin and collagen receptor|very late activation protein 1 protein-coding 1313014 ITGA10 integrin, alpha 10 Integrins are integral membrane proteins composed of an alpha chain and a beta chain, and are known to participate in cell adhesion as well as cell-surface mediated signalling. The I-domain containing alpha 10 combines with the integrin beta 1 chain (ITGB1) to form a novel collagen type II-binding integrin expressed in cartilage tissue. [provided by RefSeq] 1358329,2300381,1580863 9685391,16684505,12975309,12477932,11731273,10702680,9822998,9359872,15713743 1358329,2300381 8515 NM_003637,AF172723,AL160282,CH471244,AF074015,AF112345,AK304155,AK304183,AK314255,AY358325,BC140831,BC144637 NP_003628,AAF61638,EAW71424,EAW71425,AAC31952,AAF21944,BAG65044,BAG65063,BAG36921,AAQ88691,AAI40832,AAI44638,O75578,AAI60008 Hs.158237 PRO827 integrin alpha-10 protein-coding 1323311 ITGA11 integrin, alpha 11 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq] 1358329,2300381,1580863 19913614,10464311,10486209,19390575,18990704,11518510,18519826,17600088,16697656,15146197,14702039,12496264,12392762,18839057,19641149,19789190,20379614 1358329,2300381 22801 NM_001004439,AC021553,AC100825,CH471082,AF109681,AF111799,AF137378,AK095863,AK292445,AK304778,AL359064,BX496541,CN358985 NP_001004439,EAW77820,EAW77821,AAF01258,AAL39001,AAD51919,BAG53148,BAF85134,BAG65532,CAB94392,Q9UKX5,AAI67840 Hs.436416 HsT18964 integrin alpha-11 protein-coding 1348738 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) This gene product belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane glycoproteins composed of a distinct alpha chain and a common beta chain. They are found on a wide variety of cell types including, T cells, fibroblasts and platelets. Integrins are involved in cell adhesion and also participate in cell-surface mediated signalling. [provided by RefSeq] 1581029,2300381,2307419,2307425,2307420,2307422,2307421,2307423,2307424,1582296,1582298,1582305,1582294,1582302,1582299,1582295,1582297,1582303,1582304,1582306,1582300,1582301,1580863 9391074,14681217,2933589,10201960,10942362,2545729,10778855,1763388,19530321,19479237,19451223,19420105,19388931,19350519,19336370,19263529,19204726,19202951,19132198,19131662,19110485,19082798,19008959,18990704,18983487,18974842,18936436,18836731,18830231,18826391,18820259,18806884,18638089,18613064,18608122,18587047,18554474,18513389,18502778,18491034,18448666,18417478,18413316,18362184,18231737,18057877,18026855,17890945,17855352,17728329,17669516,17638891,17630485,17598123,17538005,17534386,17498594,17495265,17408410,17346829,17331499,17312461,17264949,17196570,17184645,17179151,17164499,17160992,17157856,17127487,17092301,17070428,17036337,17023078,17003923,16972245,16908762,16905953,16882656,16875034,16828471,16820192,9461325,9402003,9353312,9281592,9223755,9211352,9198193,8889548,8387021,8276836,7994488,7916494,7901236,7861330,7545357,7503723,3546305,2156854,1693624,1690718,10094488,10741407,9813091,9812906,9789327,9746778,9731077,9688542,9676575,9632739,9509387,19827952,20351310,20436081,19778317,16732726,16697311,16634766,16622460,16573563,16513317,16421008,16390868,16380674,16357324,16344560,16341674,16317580,16304451,16263699,16214444,16157382,16140647,16113793,16055706,16043429,15978110,15978109,15947241,15892865,15847651,15777792,15730528,15699160,15647274,15630502,15546585,15522237,15514009,15355504,15355503,15350465,15342556,15304053,15292257,15265786,15240572,15227729,15205592,15146197,15132990,15104219,14746139,14701832,14687991,14679206,14671618,14563646,14556196,13679375,12928694,12915563,12871600,12871362,12791669,12788934,12724616,12717361,12690916,12681287,12657625,12615788,12544734,12540964,12529399,12499711,12486862,12482545,12412731,12392763,12372459,12208476,12181354,12082592,12082590,12073410,12071877,12070018,12042322,12038776,11978651,11958806,11856343,11835340,11812069,11809527,11776052,11775028,11728949,11698306,11572092,11568114,11555674,11472360,11395045,11359786,11359774,11323022,11307375,11246537,11238113,11169447,11030148,10944199,10918561,10744142,10737800,10666376,10465258,10429193,10397731,10381815,10339462,19235843,20806289,11877061,12477932,16754661,16754960,18787945,19395705,19411307,19422573,19500323,19549780,19559392,19570064,19578796,19587357,19622836,19635510,19700757,19702628,19724904,19729601,19740098,19757325,19789264,19789387,19927126,19948007,19995941,20048261,20063990,20076847,20149160,20178602,20201926,20204402,20336352,20453000,7639691,9645947,21034162,19913121,20485444,20532885,20536507,20598296,20628086,20667040,20691446 1581029,2300381,2307419,2307425,2307420,2307422,2307421,2307423,2307424,1582296,1582298,1582305,1582294,1582302,1582299,1582295,1582297,1582303,1582304,1582306,1582300,1582301 3673 NM_002203,NG_008330,AC008966,AF035968,AF062039,AF512556,CH471123,L24121,S72155,AK307952,AU126174,BC143505,BC143508,BC143509,BC143511,BC143512,BE048389,BF355124,BG288116,BG494837,BG771368,BM828183,BM979113,BP280760,BP381403,CA442768,CK904145,CN272390,DA343078,DA545055,X17033 NP_002194,AAC94975,AAF77577,AAM34795,EAW54872,EAW54873,AAA16619,AAD14096,CAA34894,P17301,Q16183,Q71V33,Q9NNZ2,AAI48597,AAI56716 Hs.482077 BR|CD49B|GPIa|VLA-2|VLAA2 CD49 antigen-like family member B|OTTHUMP00000221525|OTTHUMP00000221526|VLA-2 subunit alpha|collagen receptor|integrin alpha 2|integrin alpha-2|platelet antigen Br|platelet glycoprotein GPIa|platelet glycoprotein Ia|platelet membrane glycoprotein Ia|very late activation protein 2 receptor, alpha-2 subunit protein-coding 1349627 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq] 2300381,1580863,2316362,2316360,2316358,2316361 11606749,2439501,10429193,3607284,10605720,19570064,19562259,19329429,19286442,19279667,19262211,19172520,19132198,19117493,19082798,18990338,18989530,18979363,18979362,18976939,18826388,18796633,18791937,18646302,18641368,18638089,18573917,18502778,18433460,18405917,18399841,18396070,18383324,18334487,18331836,18328539,18317590,18316775,18316480,18237139,18211801,18201749,18174155,18088350,18064323,18057877,18041653,17954176,17922435,17872456,17767046,17763154,17728329,17721619,17714854,17644514,17635696,17630485,17615290,17561290,17538005,17495265,17488698,17468108,17414216,12408998,12399140,12393463,12388784,12297512,12200372,12181054,12140290,12083483,12071877,12049640,12042322,12038797,12031826,12023286,11994301,11964172,11918133,11858493,11812775,11798398,11776052,11728949,11719362,11698306,11583324,11575217,11487023,11467947,11460491,11367863,11359786,11341496,11260064,11260063,11204574,10772239,10607701,10391209,10212286,9920835,9809974,9809890,9789327,9763559,9736129,9734640,9722314,9473221,9288464,9215749,9030514,8704171,8663236,8631894,8620874,8612741,8400294,8282784,8132607,7878622,7706461,7688323,7559457,7520045,7508443,3801670,3534886,3479442,3422188,2845986,2775232,2476117,2444974,2351656,2350579,2345548,2322558,1953640,1737795,1702098,1639797,1429573,1375923,11238109,15075326,17332246,17320454,17160992,17138951,17032655,17018384,16923192,16905953,16895913,16879224,16879215,16877710,16825200,16822941,16806233,16773503,16716076,16636497,16582881,16573563,16487966,16469512,16359515,16357324,16335952,16324093,16322781,16248996,16228296,16115959,16102042,16051597,15978110,15976180,15917997,15890274,15886807,15863506,15847651,15842360,15748238,15730528,15701721,15701653,15678278,15634267,15630502,15355503,15316595,15227729,15226180,15219201,15205468,15166241,15134555,15131115,15121870,15099289,15067009,15056669,14675395,14671618,14597981,14525764,14521607,12938014,12911597,12871600,12871468,12871379,12871362,12860973,12827240,12799374,12736272,12730600,12724616,12719784,12668663,12637342,12609844,12586134,12511588,12506038,12477932,12446192,12426312,12424194,17346829,17337041,12411794,20828133,19778317,20002543,20020534,9351824,20584077,20230421,20819594,21071690,20486118,14681217,14985176,16005629,16546176,16581250,16933105,19170775,19232685,19527732,19691478,19702628,19765213,19804783,19805198,19863457,19884334,19888429,19903699,19948007,19996122,20075254,2010551,20149160,20308600,20363746,8467233,19729601,20153702,20514618,20615878,20652946,19913121,20628086,20667040 2300381,2316362,2316360,2316358,2316361 3674 NM_000419,NG_008331,AC003043,AC007722,CH471178,M22568,M22569,M33320,M34344,M54799,AB209552,AF098114,AK297155,AK303081,AK315335,BC117443,BC126442,BE409167,BM148153,DQ841705,J02764,M18085,M34480,X06831 NP_000410,EAW51594,EAW51595,EAW51596,EAW51597,AAA52587,AAA52588,AAA53150,AAA52598,AAA52599,BAD92789,AAC98507,BAG59654,BAH13896,BAG37735,AAI17444,AAI26443,ABI15196,AAA60114,AAA52597,AAA35926,CAA29987,P08514,Q0MVN7,Q59FA8,Q6LDK5 Hs.411312 CD41|CD41B|GP2B|GPIIb|GTA|HPA3 GPalpha IIb|integrin alpha-IIb|integrin, alpha 2b (platelet glycoprotein iib of iib/iiia complex, antigen cd41b)|platelet fibrinogen receptor, alpha subunit|platelet membrane glycoprotein IIb|platelet-specific antigen BAK protein-coding 1321177 ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) The protein encoded by this gene belongs to the family of integrins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain, and function as cell surface adhesion molecules. This gene encodes alpha 3 subunit, which undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 subunit to form an integrin that interacts with many extracellular-matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1358329,2300381,1580863,2325818,2325829,2325666,2325851,2325287 12919677,12887919,12717361,12699087,12615788,12480921,12477932,12452046,12445830,12397374,12372459,11988844,11936878,11907260,11884516,11853674,11679509,11387256,11358957,11344212,11327697,11307375,11278628,11165569,10994995,10929059,10906324,10852818,10811835,10801807,10734060,10694273,10684262,10487289,10094488,10082751,10065872,9950675,9809676,9733622,9704023,9402008,9360996,9360995,9350325,9223324,9111516,8889548,8757325,8407358,8187758,8006073,7591201,7545357,7542504,6593709,3033641,1714443,12775419,12119179,3546305,1693624,1690718,14676841,1655803,19451223,19339270,19297475,19230171,19074885,18839319,18695939,18550570,18492066,18464290,18384059,18224668,17997226,17888902,17630833,17498594,17481915,17475774,17265493,16785564,16732726,16731529,16707493,16571677,16537545,16510444,16475024,16459165,16390868,16373174,16344560,16339173,16307893,16273094,16103120,16055706,15983209,15919367,15878864,15805105,15677332,15361064,15351855,15346842,15302884,15280429,15254262,15194015,15181153,15109703,15024036,14706682,14702039,14666169,14662754,14645603,14612440,14607975,14602071,14596610,20412552,10982388,11888933,11964076,16326706,1911778,19130304,19411307,19730683,19752234,19755493,19759146,20352300,16878156,20926544 1358329,2300381,2325818,2325829,2325666,2325851,2325287 3675 DA655978,M59911,NM_002204,NM_005501,AC002401,AC009720,CH471109,AB209658,AK091950,AK092023,AK289961,AK293323,AK303384,BC015344,BC043917,BC136636,BC144328,BC150190,BM978115,D01038 BAA00845,AAA36120,P26006,Q59F03,Q86SW1,NP_002195,NP_005492,EAW94645,EAW94646,EAW94647,EAW94648,BAD92895,BAF82650,BAG56841,BAG64440,AAH43917,AAI36637,AAI44329,AAI50191 Hs.265829 CD49C|FLJ34631|FLJ34704|GAP-B3|GAPB3|MSK18|VCA-2|VL3A|VLA3a CD49 antigen-like family member C|FRP-2|VLA-3 subunit alpha|antigen identified by monoclonal antibody J143|galactoprotein B3|integrin alpha-3|very late activation protein 3 receptor, alpha-3 subunit protein-coding 1348031 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) The product of this gene belongs to the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an alpha 4 chain. Unlike other integrin alpha chains, alpha 4 neither contains an I-domain, nor undergoes disulfide-linked cleavage. Alpha 4 chain associates with either beta 1 chain or beta 7 chain. [provided by RefSeq] 2300381,1580863 14681217,1715889,19579970,19542447,19454674,19353432,19345424,19318232,19259978,19074885,19064666,19011162,19000758,18941119,18850009,18846500,18697840,18697202,18641015,18635536,18632734,18628406,18614994,18549800,18519809,18501656,18448868,18390735,18351655,18348195,18326820,18292781,17964871,17959854,17689671,17609118,17597073,17530710,17472576,17352405,17274987,17150024,17015707,16920711,16818733,16365170,16249234,16227616,16158049,16002725,16001979,15990174,15987366,15872091,15749880,15731179,15572366,15448154,15308572,15292185,15263094,15257952,15226304,15166232,15090462,15070678,15051489,14699013,14666169,14657342,14645084,14623330,14525968,12904899,12844491,12837751,10229664,11083865,11435317,10702270,9873398,11724793,8757325,9541595,12682249,11010812,9117345,3546305,1693624,1373725,20357260,12794117,12694973,12686501,12659685,12477932,12218055,12171996,12163503,12097820,12054567,11966761,11929789,11929779,11877275,11777963,11533025,10604475,9789327,9488735,9086434,8643114,8611173,8440915,7587632,3033641,2788572,2034655,1824634,1730718,1551405,1537388,9263011,10852818,9765275,11919182,12234367,15622747,17369818,19460753,19604093,19655168,19748482,19815047,20007695,20097761,20190752,20379614,20388801,9079671,9547293,21037509,19913121,19933330,20628086 2300381 3676 AAB25486 AC020595,CH471058,M62841,M62842,AB208885,AJ504733,AJ508356,AJ510246,AJ510247,AJ510248,AJ510249,AK303220,AK303478,AK310610,AK311738,BC016671,BC055419,BC080190,CR608570,CR618928,L12002,X16983,NM_000885 NP_000876,EAX10985,EAX10986,EAX10987,AAA51557,BAD92122,CAD43289,CAD48165,CAD53326,CAD53327,CAD53328,CAD53329,BAG64307,BAG64514,AAH16671,AAH55419,AAH80190,AAB59613,CAA34852,AAB25486,P13612,Q13682,Q59H74,Q68EM9,Q6PJE7,Q7Z4L6,Q8IU66,Q8IU71,Q8IUA2,AAI46278,AAI56713 Hs.440955 CD49D|IA4|MGC90518 269C wild type|CD49 antigen-like family member D|VLA-4 subunit alpha|antigen CD49D, alpha-4 subunit of VLA-4 receptor|integrin alpha 4|integrin alpha-4|integrin alpha-4 subunit|integrin alpha-IV|very late activation protein 4 receptor, alpha 4 subunit protein-coding 1351478 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq] 2300381,1580863 20471683,19276077,19179533,19036703,18992284,18845630,18775869,18707587,18687805,18676743,18613064,18611961,18590706,18583538,18464290,18452157,18445685,18328539,18243286,17664272,17664256,17624082,17596295,17498594,17490870,17482311,17472576,17406357,17359518,17300927,17286276,17133443,17027088,17012251,16959765,16940508,16920931,16818733,16756721,16569642,16547007,16457822,16430945,16344560,16341674,16005200,15987366,15983209,15881415,15757908,15737747,15728256,15699160,15684035,15509657,15500293,15489334,15389531,15331608,15187087,15100006,15090462,15051489,14998999,14684825,14610084,14596610,12970173,12871973,12865438,12807887,12799374,12682293,12639965,12595495,12486108,12477932,12359771,12220988,12174366,12138201,12115183,12081894,12067900,12042322,11937138,11919189,11893752,11877275,11852236,11801679,11741954,11555674,11479315,11462216,11158588,11149921,10982404,10888683,10871287,10848623,10713718,10626908,10397733,10091938,10082751,10072872,10065872,9916748,9864377,9809676,9790314,9789327,9509387,9361020,9314546,9238676,9223324,9211865,8980606,8757349,8658014,8599839,8562338,8537347,8387021,8034133,7861330,7690138,7592829,7542116,2454952,14970227,18029348,19564406,19454674,19443705,19416892,19404550,19297531,7539135,7532190,7504269,3033641,2958481,2944883,2846588,2450560,2202737,1834647,1694173,1693626,10094488,1532572,8538749,15028619,12868002,11877390,3546305,1693624,1690718,20133364,20643357,20565758,20686611,20713621,20528248,20564209,10022831,10673366,15781448,16051604,18186923,19267251,19460753,19478484,19497979,19502598,19579970,19617714,19706683,19710103,19747169,19822142,19843692,19847290,19887442,19950288,20097172,20118200,20332114,20332668,20379614,20339539,20352103,20172014,20514406,20522645 2300381 3678 NM_002205,AC079313,CH471054,AK291570,AK304696,AK311051,AK312414,AU133210,AY429549,BC008786,BM787112,BX647780,CR598441,M13918,X06256,HI574152 NP_002196,EAW96780,EAW96781,EAW96782,BAF84259,BAG65466,BAG35324,AAH08786,AAA52467,CAA29601,P08648,ABM83616,ABW03523,CBX47565 Hs.505654 CD49e|FNRA|VLA5A CD49 antigen-like family member E|VLA-5|fibronectin receptor subunit alpha|fibronectin receptor, alpha subunit|integrin alpha-5|integrin alpha-F|very late activation protein 5, alpha subunit protein-coding 731429 ITGA6 integrin, alpha 6 The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1358329,2300381,1600016,1302259,1580863 20508204,19827952,20452317,20878950,9185503,19491258,19138983,19124484,19107504,18974120,18971471,18958175,18687805,18831072,18614994,18550570,18451146,18436868,18270579,18818395,18155160,17979890,17935134,17652716,17475774,17332515,17303120,17085437,16973601,16965770,16940506,16870608,16732726,16571677,16537545,16504015,16436605,16424229,16344560,16339173,16263699,16258729,16228294,15983209,15897878,15885076,15679046,15579904,15557282,15361064,15302884,15194479,15161909,14707725,14607975,14602071,14517202,12931024,12919677,12909644,12826661,12791251,12499048,12477932,12429829,12397374,12364323,12105188,12033289,11988844,11959811,11884516,11861761,11852236,11809527,11739652,11728829,11684709,11479315,11389095,11359780,11251584,11238109,10811835,10713718,10711425,10671376,10657249,10525545,10477615,10094488,9660880,9500991,9425259,9360996,9360995,9158140,8838570,8757325,8496190,8360143,8253814,8163531,7681434,7629079,7583007,7556090,2649503,2542022,2070796,1976638,1946438,1476731,2138612,1693624,2967289,1690718,20855525,10637308,12482924,12802069,16581764,16757171,18814027,18842099,19130304,19242489,19579970,19586553,19767753,19775453,19808905,20432448,20441998,19364818,21115897,20485444,20564319,20628624 1358329,2300381,1600016,1302259 3655 NM_000210,NM_001079818,NG_008853,AC078883,AF166343,CH471058,S52135,AB208842,AK294436,AK296496,AK307777,AK311695,BC007002,BC050585,BC136455,BC136456,BX537483,DA760250,DQ858220,S66196,S66213,X53586,X59512 NP_000201,NP_001073286,AAX93133,AAD48469,EAX11175,EAX11176,EAX11177,AAB24829,BAD92079,BAG57680,BAG59130,AAH50585,AAI36456,AAI36457,ABH11650,AAB20354,AAB20355,CAA37655,CAA42099,P23229 Hs.133397 CD49f|DKFZp686J01244|FLJ18737|ITGA6B|VLA-6 CD49 antigen-like family member F|OTTHUMP00000205045|OTTHUMP00000205046|OTTHUMP00000205048|OTTHUMP00000205049|integrin alpha-6|integrin alpha6B protein-coding 734343 ITGA7 integrin, alpha 7 The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 2300381,1600024,1600025,1580863,70774 9354797,9590299,18029348,19416897,18940796,17641293,17618648,17551147,17054947,16344560,16289162,15340161,15117962,14702039,12975309,12941630,12477932,12057917,11884516,11361006,10910772,10906324,10694445,10459022,10403775,9570924,9473524,9402008,9352853,9307969,8626012,8253814,8126096,7607681,1839357,1315319,20651226,20453000,20460506,11054877 2300381,1600024,1600025,70774 3679 NM_002206,NM_001144996,NG_012343,AC009779,AJ228836,CH471054,AB210036,AF032108,AF034833,AF052050,AF072132,AK022548,AK057949,AK304864,NM_001144997,AY358882,BC050280,DA096702,DA398527,X74295 NP_001138469,NP_002197,NP_001138468,CAB41534,CAB41535,EAW96819,EAW96820,EAW96821,EAW96822,EAW96823,BAE06118,AAC39708,AAB87696,AAC18968,AAC80458,BAG51088,BAG65602,AAQ89241,AAH50280,CAA52348,Q13683,Q4LE35,Q86W93 Hs.524484 FLJ25220 integrin alpha 7|integrin alpha 7 chain|integrin alpha-7 protein-coding 736147 ITGA8 integrin, alpha 8 2302241,2300381,1580863,633055 16385451,19197348,19527220,19915575,7541634,9614184,7768999,19342381,18277079,15592496,15579315,15164054,12787402,12415008,12060755,11668187,11470831,10742111,10504498,7559467,20678483 2302241,2300381,633055 8516 EF444991,NM_003638,AL359645,AL590636,AY371697,CH471072,AK297740,AK308240,L36531 ACA06009,NP_003629,CAH73424,CAI14955,AAQ56848,EAW86235,BAG60090,AAA93514,P53708,AAI48353 Hs.171311 integrin alpha 8|integrin alpha-8 protein-coding 1322518 ITGA9 integrin, alpha 9 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq] 1358329,2300381,1580863 8245132,19494327,19403822,19346516,19140316,18973153,18794852,18230652,16430945,16005200,15590642,15479742,15247268,20362630,12477932,11882657,11598204,11462216,10593924,8381220,8290272,8798654,10209034,11773029,19478819,19608669,19686679,19796635,20159768,20379614,20414254,20479155,9565552,20412120,20435742 1358329,2300381 3680 NM_002207,AC092055,AC093415,AP006240,CH471055,AK026826,AK123884,BC030198,BX647350,D25303,L24158,NG_016166 NP_002198,EAW64501,AAH30198,BAA04984,AAA16099,Q13797,Q8N6H6 Hs.113157 ALPHA-RLC|ITGA4L|RLC integrin alpha-9|integrin alpha-RLC|integrin, alpha 4-like protein-coding 731798 ITGAD integrin, alpha D 1358329,2300381,1580863 10438935,9598326,8777714,8666289,9841932,15561714,14702039,12429998,10722744,19571252,19710015 1358329,2300381 3681 HC734518,NM_005353,AC026471,AC093520,AF187881,CH471192,U40274,U40275,U40276,U40277,U40279,AB208945,AK097160,U37028,AK301028 CBL95066,NP_005344,AAF62875,EAW52139,AAB60634,AAB60635,AAB60636,AAB60637,AAB60638,BAD92182,BAC04967,AAB38547,Q13349,Q59H14,Q8N882,AAI56096,BAH13393 Hs.679163 ADB2|CD11D|FLJ39841 CD11 antigen-like family member D|integrin alpha x|integrin alpha-D|leukointegrin alpha D protein-coding 1346113 ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq] 2300381,1580863 8119947,19150377,19074885,19023099,18492951,18182176,17975119,17325197,16920912,16216886,16177076,15489334,15196058,14532999,12477932,12414996,12370249,11311556,10978890,10837471,10790430,10673275,9765275,9676575,8580465,8526015,7614974,3498635,1542691,12434297,16169070,18839057,19604725,20237496,20379614,20417566,20588308 2300381 3682 NM_002208,AC116914,AF168787,CH471108,AF289864,BC113436,BC117207,CD368046,L25851 NP_002199,AAF43107,EAW90480,AAI13437,AAI17208,AAB59359,P38570,ADR83440 Hs.513867 CD103|HUMINAE|MGC141996 HML-1 antigen|antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide|integrin alpha-E|integrin alpha-IEL|mucosal lymphocyte 1 antigen protein-coding 1352170 ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2300381,1580863 14722085,14695458,14688105,14676297,12855590,12847234,12845325,12815062,12694184,12616499,12516552,12477932,12392323,12368450,12207338,12202941,12171996,12163503,12163056,12139949,12117984,12036881,12020947,11953106,11929876,11882033,11867690,11812992,11792712,11786177,11353828,10493852,10493829,9789327,9743356,9676575,8995416,8805579,8099450,8097887,7691868,7576051,7542116,7479767,3301632,3284962,2894392,2537322,1762294,1702722,7917519,15183063,9341793,8450224,7904170,2543075,1967280,1757107,9263011,8086129,12526797,11279101,11544294,10602019,9442085,1448173,2477710,8103515,10477596,11857637,19268609,19050286,19029120,18922916,18339898,18199751,18195072,18156711,18079697,17913807,17785425,17673459,17591777,17486117,17468108,17430469,17078873,17045822,17038526,16963559,16920795,16918410,16855029,16705652,16622014,16505487,16492228,16472601,16301335,16249234,16207819,16100282,16038038,16037628,16002691,15983060,15958383,15946252,15851656,15834409,15730520,15728350,15693793,15611342,15356110,15308572,15240749,15208262,15113754,20574620,20445017,20511548,15622747,19135988,19502238,20338181,20403997,20953905,19913121,20628086 2300381 3683 NM_002209,NM_001114380,AC002310,AC116348,CH471192,DQ131904,M95609,Z22804,AK298674,AK303190,AK314246,BC008777,CA430398,DC324373,Y00796 NP_002200,NP_001107852,AAC31672,EAW52243,EAW52244,EAW52245,AAZ38713,AAA16474,CAA80461,BAG60839,BAG64283,BAG36913,AAH08777,CAA68747,P20701,Q96HB1 Hs.174103 CD11A|LFA-1|LFA1A CD11 antigen-like family member A|LFA-1 alpha|LFA-1A|antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide|integrin alpha-L|integrin gene promoter|leukocyte adhesion glycoprotein LFA-1 alpha chain|leukocyte function-associated molecule 1 alpha chain|lymphocyte function-associated antigen 1 protein-coding 1343608 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2300381,1580863 15485828,15454120,15304494,15294914,15277376,15217824,15073035,14769799,14751053,14532278,12960243,12847278,12816955,12760968,12731070,12694184,12665127,12600815,12576754,12516552,12495676,12485936,12477932,12466503,12444150,12393719,12393547,12390020,12377937,12377763,12244179,12234260,12208882,12165526,12145463,12107753,12042322,12036876,12009501,11967116,11953106,11941318,11937770,11893077,11881155,11843895,11701612,11073102,10946284,10899906,10846180,10748078,10744708,10352278,9844058,9712878,9687375,9569238,9560195,9558116,9488691,9211902,15004192,2563162,19587009,19387459,19286673,19250688,19246218,19135988,19129174,19110536,19086264,19073595,18941116,18842294,18762778,18714035,18685529,18684982,18678668,18676132,18644795,18617697,18541300,18509085,18496641,18495781,18414903,18375764,18204448,18204446,18204098,18164590,18156711,18096476,18065787,18029348,17957461,17927697,17721605,17445870,17372166,17346796,17228360,17202407,17202372,17172930,16915040,16782049,16614246,16508260,16389569,16357311,16260637,16249234,16239529,16037628,15976367,15778383,15741160,15730520,15718918,15641787,15615722,15585684,15489334,9142045,8747460,8573344,8458080,8419480,7867070,9175709,4062888,3539202,3284962,2833753,2457584,2454931,1683702,1346576,1967280,12682255,20483667,20580686,20826754,19800635,16246332,19052753,19480860,19546439,19550115,19578722,19747912,19748962,19811837,19833726,19863185,19939855,20185670,20190138,20228269,21135163,19165918,20848568,20881011,20962850,21068098,19913121,20628086,20629846,20666624 2300381 3684 NM_000632,NG_011719,NM_001145808,AC093520,CH471192,M76724,M84477,S52227,AA436312,AK057856,AK127637,AY187247,AY187248,BC096346,BC096347,BC096348,BC099660,BM194233,J03925,J04145,M18044 NP_000623,NP_001139280,EAW52143,EAW52144,AAA58410,AAA51960,AAB24821,BAG54538,AAH96346,AAH96347,AAH96348,AAH99660,AAA59544,AAA59903,AAA59491,P11215,Q4VAK1 Hs.172631 CD11B|CR3A|MAC-1|MAC1A|MGC117044|MO1A|SLEB6 CD11 antigen-like family member B|CR-3 alpha chain|antigen CD11b (p170)|cell surface glycoprotein MAC-1 subunit alpha|integrin alpha-M|integrin, alpha m (complement component receptor 3, alpha; also known as cd11b (p170), macrophage antigen alpha polypeptide)|leukocyte adhesion receptor MO1|macrophage antigen alpha polypeptide|neutrophil adherence receptor alpha-M subunit protein-coding 1321618 ITGAV integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) ITAGV encodes integrin alpha chain V. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The I-domain containing integrin alpha V undergoes post-translational cleavage to yield disulfide-linked heavy and light chains, that combine with multiple integrin beta chains to form different integrins. Among the known associating beta chains (beta chains 1,3,5,6, and 8; 'ITGB1', 'ITGB3', 'ITGB5', 'ITGB6', and 'ITGB8'), each can interact with extracellular matrix ligands; the alpha V beta 3 integrin, perhaps the most studied of these, is referred to as the Vitronectin receptor (VNR). In addition to adhesion, many integrins are known to facilitate signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1358329,1627651,1627644,1627640,1627642,2300381,1582453,1582446,1582450,1582452,1582449,1582447,1582461,1625134,1582458,1580863 11877390,2430295,15215180,19590686,19475568,19371633,19334037,19255147,19212638,19212436,12893184,12875973,12874388,12807887,12765524,12754519,12750158,12695522,12691260,12682293,12660257,12645863,12642872,12639965,12553378,12486108,12477932,12427871,12399420,12384999,12372811,12372469,12370491,12364323,12358597,12356872,12324470,12324452,12270930,12237321,12237112,12210725,12198771,12196561,12193380,12177807,12168086,12161360,12143051,12082152,12063036,12042322,12031826,11988838,11970960,11959660,11953315,11934894,11927607,11884718,11882657,11872628,11858476,11848444,11821050,11741954,11724803,11706074,11683411,11577104,11546839,11435317,11331301,11287419,11278329,11162558,11134507,10965141,10871287,10837460,10835423,10821835,10749942,10715259,10549293,10545994,10537314,10438928,10397733,10037797,9916748,9813179,9789327,9686320,9626063,9517988,9256940,9251239,9133434,9108459,8757349,8599839,8294396,8034133,7690138,7689573,7682219,7678549,7545239,7539135,7522056,2478219,2467745,2454952,2450560,2443500,2202737,2138612,1918072,1694173,1690718,1532572,12083833,16166568,12459484,8798654,1693624,15700281,18345483,18331351,18310319,18247041,18211678,18191107,18090124,18084301,18079201,18064530,18062611,18045938,18029348,17879163,17854909,17641225,17621633,17615072,17550972,17483236,17446174,17408468,17369840,17331499,17300927,17275949,17175151,17158881,17034033,16973584,16877343,16835373,16818691,16790523,16731529,16702213,16675963,16672769,16631833,16631740,16614246,16496302,16448724,16407244,16400188,16385340,16186116,16150802,16105876,16100012,16099422,16024014,16005200,15998788,15921657,15914035,15897908,15866865,15834425,15828940,15815621,15795319,15695828,15647827,15638730,15609323,15557124,15509546,15489334,15361064,15299032,15269586,15194773,15051489,15044441,14966135,14766759,14741360,14666169,14596610,14524530,12917446,12902636,20121756,20558745,20033473,20477989,19164533,18349127,19141530,19118218,19088289,19074851,19061491,19037107,19017937,18927433,18854176,18844213,18821851,18814143,18781095,18698261,18695916,18694400,18648521,18635536,18550570,18549690,18451156,18445685,18441324,18427826,18394009,18364349,18353785,18353318,20638909,20400979,10640428,11997396,17925226,18221819,18310446,19267182,19435649,19448673,19487690,19541645,19549907,19581046,19617625,19695571,19704023,19710103,19751734,19808093,19808644,19815712,19818132,19837659,19882657,19888429,19888537,19889638,19910644,19998373,20019187,20306691,20379614,7505120,8120056,9443892,20857483,21098231,21135163,19811096,20715172,20826760,20719960,20926544,19913121,20026907,20519501,20554778,20600001,20615244,20628086,20628624 1358329,1627651,1627644,1627640,1627642,2300381,1582453,1582446,1582450,1582452,1582449,1582447,1582461,1625134,1582458 3685 AK302990,AK309711,BC047454,BC072686,BC126231,BC136442,BC144100,BQ129340,EF560727,M14648,N83286,AK302550,NM_002210,NM_001145000,NM_001144999,AC017101,AF251818,AF251819,AF251820,AF251821,AF251822,AF251823,AF251824,AF251825,AF251826,AF251827,AF251828,AF251829,AF251830,AF251831,AF251832,AF251833,AF251834,AF251835,AF251836,AF251837,AF251838,AF251839,AF251840,AF251841,CH471058,U07375,AB209894,EU332844 BAG63819,BAH13869,AAI26232,AAI36443,AAI44101,ABQ59037,AAA36808,P06756,NP_002201,NP_001138472,NP_001138471,AAY24257,AAG03000,EAX10933,EAX10934,AAA61631,BAD93131,ABY87533 Hs.436873 CD51|DKFZp686A08142|MSK8|VNRA antigen identified by monoclonal antibody L230|integrin alpha-V|vitronectin receptor subunit alpha 2303086 MAMTS44_H protein-coding 1350525 ITGAW integrin, alpha W 3686 1348968 ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. [provided by RefSeq] 2300381,1580863 20574620,21030716,20382884,2303426,3327687,19237023,18580071,18541300,18386786,18204098,18047418,17726260,17726152,17045822,16716806,16037628,15900581,15730520,15665082,15489334,14702039,12576324,12477932,12351396,12208882,12100475,12083416,11937543,11845978,11840270,11799095,11460493,11369639,11174197,9885225,9598326,9473377,9250811,9176697,8645576,8598231,8573344,8045597,7621072,7512600,3549901,3284962,1976870,1967280,4062888,19129174,20660331,19800635,20888334,19257981,19910635,20032971,20033057,20479115,20679211,20962850,20610651 2300381 3687 L19440,M29482,M29483,M29484,M29485,M29486,M29487,AK074047,AK293367,AK296666,AK309642,AW014280,BC037577,BC038237,BM149283,CA308944,M81695,NM_000887,NG_011451,AC093520,CH471192 EAW52142,AAA35661,AAA51620,BAB84873,BAG56881,BAG59263,AAH38237,AAA59180,P20702,Q6LED2,Q8TES5,ABM83412,ABM86623,NP_000878,EAW52140,EAW52141 Hs.248472 CD11C|SLEB6 CD11 antigen-like family member C|integrin alpha-X|integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|integrin, alpha x (antigen cd11c (p150), alpha polypeptide)|leu M5, alpha subunit|leukocyte adhesion glycoprotein p150,95 alpha chain|leukocyte adhesion receptor p150,95|leukocyte surface antigen p150,95, alpha subunit|myeloid membrane antigen, alpha subunit|p150 95 integrin alpha chain protein-coding 736631 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq] 633055,2300381,1625134,1302874,2325851,2325666,2325325,2325322 9660880,12175627,2156854,12639940,7559467,8798654,2967289,2649503,10464311,15611085,15156152,20650890,20686611,18156211,19960514,20051050,20183869,20510000,20643357,8567725,20531279,20624912,20634879,20650901,18947333,20362630,20565758,15723043,16878156,20063417,20522645,15961545,15949469,15947241,15919367,15905178,15881415,15878864,15872091,15805105,15795318,15777792,15757908,15737747,15731179,15713750,15699160,15684035,15677455,15677332,15647827,15647274,15645131,15633218,15590642,15583842,15572366,15567743,15539082,15522237,15514009,15509657,12947314,12941630,12931024,12919677,12918102,12915563,12909644,12907437,12904899,12893831,12893184,12883474,12871973,12865438,12844491,12826661,12807887,12803239,12799374,12791669,12788934,12699087,12695522,12694355,12682293,12681287,12662928,12639965,12637511,12606711,12595495,12578911,12574205,12517798,12514714,12509413,12500944,12496264,12486108,12480921,12477932,12456677,12445830,12427871,12411441,12397575,12397374,12393420,12392763,12376466,12372459,14681217,9552005,1715889,17704059,10201960,14970227,9415431,19564406,19454674,19416892,19404550,19359599,19350017,19346516,19342381,19323811,19307303,19297531,19261610,19250636,19240021,19228923,19190332,19179533,18794852,18760454,18755811,18707587,18695939,18687805,18676743,18676377,18648521,18644869,18635536,18632734,18615555,18614994,18613064,18611961,18587047,18583538,18577581,18567578,18554474,18549800,18519809,18512729,18501656,18499669,18492066,18491034,18477477,18462748,18448666,18445685,18425341,18425328,18413316,18383324,18378436,19176753,19170051,19169646,19164533,19123990,19115199,19074826,19073896,19064666,19057841,19026687,19020712,19005162,18992284,18990704,18984674,18983487,18973153,18957620,18945876,18940913,18850009,18845630,18844239,18826391,18820259,11728829,11716783,11668187,11553610,11507094,11462216,11435317,11387256,11358957,11313964,11309411,11279249,11278628,11256614,11238109,11230166,11208159,11149921,11076863,11010812,10944520,10944199,10906324,10852818,10811835,10804218,10741407,10734060,10694273,10684262,10623819,10613898,10593924,10506186,10486209,10459022,10397733,10397731,10229664,10209034,10065872,9916748,9914169,9889149,16547007,16537545,16510444,16504015,16501085,16459165,16457822,16448724,16430945,16421008,16415171,16390868,16385340,16381901,16373174,16365170,16363250,16357324,16344560,16341674,16335952,16301336,16258728,16247454,16228294,16213489,16195423,16157583,16148152,16113793,16105875,16103120,16099422,16076904,16055706,16055535,16043429,16005200,16002725,15987639,15983209,15978110,15978109,18375753,18356158,18326820,18322799,18310319,18250451,18243286,18230652,18155697,18057877,18054915,18048918,18048360,18037995,18032709,18026855,17997226,17991734,17968567,17960115,17901052,17899316,17888902,17760843,17726369,17706641,17671519,17664272,17638891,17634906,17630833,17609118,17603494,17597073,17573778,17560548,17538005,17530710,17521731,17515951,17514628,17498594,17490870,17481915,17469136,17408410,17407140,17380111,17371832,17352405,17331499,17318179,17312461,17311314,17300927,17286276,17186162,17141917,17110618,17081065,17060328,17015707,17012251,16984420,16972245,16940508,16920931,16916750,16908762,16908668,16882656,16820945,16807379,16773720,16762342,16732726,16731529,16707493,16705158,16569430,16547500,15507484,15500293,15489336,15485856,15466867,15389531,15304053,15302884,15292257,15292185,15280429,15276642,15276495,15265786,15256055,15254262,15247268,15240572,15226304,15181153,15171717,15166232,15158122,15117962,15100006,15090462,15070678,15024036,14998999,14983010,14766759,14722085,14699139,14699013,14679206,14676841,14675422,14671618,14666169,14662754,14645603,14633626,14623330,14612932,14612440,14610084,14607975,14602071,14563646,14562042,14550305,14532964,14525968,14522909,14512423,14502569,12970173,12969374,12954625,9813091,9812906,9736715,9722563,9688542,9686320,9685391,9565552,9517988,9501082,9494094,9442085,9431988,9425259,9360996,9360995,9295027,9281592,9281591,9117345,8889548,8838570,8831898,8757599,8757349,8757325,8649427,8630057,8538749,8537347,8444890,8428973,8387021,8245132,8163531,7768999,7690138,7681433,7657702,7545396,7544298,7539135,7523423,7504269,3546305,2958481,2572537,2527614,2524991,2249781,2202737,2138612,2116421,12372334,1693624,1690718,1551917,12435334,12364323,12221126,12218055,12209735,12200131,12181354,12181350,12174366,12171996,12163503,12140560,12138201,12138200,12118253,12097820,12091396,12070135,12054567,12020426,11996105,11989791,11981820,11980922,11967148,11941451,11934885,11932920,11931654,11919189,11918217,11914080,11909975,11907260,11893752,11884618,11884516,11882657,11861761,11807098,11805102,11779688,11776052,11775028,11751905,11741908,20075392,19913121,20435742,20485444,20598296,20628086,20628624,20678483,18846341,20133364,20351310,20427540,10388537,10673366,10676904,10778855,10982388,11054877,11888933,11964076,11997396,14559906,15713743,16326706,16385451,16754661,16754960,18186923,18787945,19064571,19130304,19168626,19395705,19411307,19434537,19435806,19448673,19458194,19467326,19469865,19478484,19502598,19516006,19527220,19527712,19574430,19579970,19608669,19617714,19622836,19641149,19646550,19670701,19700757,19710103,19714342,19717562,19724904,19725119,19747169,19752234,19755493,19768654,19775453,19776755,19780039,19796635,19815047,19822142,19847290,19850917,19885568,19887442,19887601,19889638,19927126,19930715,19940135,19995941,20007695,20063990,20127017,20145038,20171211,20178602,20213106,20231384,20232313,20237496,20237901,20333644,20352300,20388801,20432448,20472470,7541634,8120056,9547293,9614184,9645947,19364818,19811096,20352103,20723423,20802515,20811680,20889506,20336352,20616308,20639577,20660204,20407016,20725651,20800221,19679609,20613771,20713715 633055,2300381,1625134,1302874,2325851,2325666,2325325,2325322 3688 AI261443,AK291697,AL710802,BC020057,BC113901,BM791591,BM973433,BX537407,CR618169,CX868374,CX871886,DA600874,DB063946,DB292597,M34189,M84237,U28252,X07979,NM_002211,NM_133376,NM_033668,AL365203,CH471072,U33879,U33880,U33882,X68969 BAF84386,AAH20057,AAI13902,CAD97649,AAA59182,AAA74402,AAA74403,AAA81366,CAA30790,P05556,Q5T3E4,Q5T3E5,Q5T3E6,CAL38075,ABM81995,ABM85177,NP_002202,NP_596867,NP_391988,CAI14426,CAI14427,CAI14428,CAI14429,EAW85948,EAW85949,EAW85950,EAW85951,EAW85952,EAW85953,EAW85954,EAW85955,EAW85956,EAW85957,EAW85958,EAW85959,EAW85960,AAA79832,AAA79833,AAA79834,AAA79835 Hs.643813 CD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLAB VLA-4 subunit beta|fibronectin receptor beta subunit|fibronectin receptor subunit beta|integrin VLA-4 beta subunit|integrin beta 1|integrin beta-1|very late activation protein, beta polypeptide protein-coding 1317220 ITGB1BP1 integrin beta 1 binding protein 1 The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. [provided by RefSeq] 1580863 9281591,11919189,9813144,19124506,18812969,17133355,16741948,16344560,16341674,15703214,15489334,15166238,14759258,14702039,12477932,11854171,11741908,11741838,10827173,9110174,8710854,8619474,20616313 9270 NM_004763,AC080162,CH471053,AF012023,AF012024,AK092115,AK093179,AK094221,AK289817,AK299017,BC012264,BG032225,BM823938,BQ425555,BX647099,CR457006,CR593803,CR604571,DA751320,NM_022334 ABM85411,ABW03723,NP_071729,NP_004754,AAY14857,EAX00991,EAX00992,EAX00993,EAX00994,EAX00995,EAX00996,EAX00997,EAX00998,EAX00999,EAX01000,EAX01001,AAB88671,AAB88672,BAF82506,BAG61097,AAH12264,CAG33287,O14713,Q53RS0,Q6IAZ8 Hs.467662 DKFZp686K08158|ICAP-1A|ICAP-1B|ICAP-1alpha|ICAP1|ICAP1A|ICAP1B ICAP-1|OTTHUMP00000195586|OTTHUMP00000214081|OTTHUMP00000214084|OTTHUMP00000214085|OTTHUMP00000214088|bodenin|integrin beta-1-binding protein 1|integrin cytoplasmic domain-associated protein 1|integrin cytoplasmic domain-associated protein 1-alpha|integrin cytoplasmic domain-associated protein 1-beta protein-coding 1350069 ITGB1BP2 integrin beta 1 binding protein (melusin) 2 1580863,1582491 10506186,12514714,12477932,11997396,9388239,15604093,20017903 1582491 26548 NM_012278,AL590762,CH471132,AF110225,AF140690,BC108901 NP_036410,EAX05296,EAX05297,AAL36913,AAF01676,AAI08902,Q32N04,Q9UKP3 Hs.109999 CHORDC3|ITGB1BP|MELUSIN|MGC119214|MSTP015 integrin beta-1-binding protein 2 protein-coding 1344874 ITGB1BP3 integrin beta 1 binding protein 3 1580863 12809483,15489334,15137942,14702039,12941630,12477932,10613898,8889548,16169070 27231 NM_170678,AC011488,CH471139,AF190819,AK001663,AK022514,AL365377,AY611481,BC093637,BC101575,BC143329,CS463840,BM669267 NP_733778,EAW69277,EAW69278,EAW69279,AAF26711,BAA91820,BAB14071,CAB96949,AAT11929,AAH93637,AAI01576,AAI43330,CAM12701,Q9NPI5 Hs.135458 MGC126624|MIBP|NRK2 NRK 2|RNK 2|integrin beta-1-binding protein 3|muscle integrin-binding protein|muscle-specific beta 1 integrin binding protein|nicotinamide riboside kinase 2|nicotinic acid riboside kinase 2|nmR-K 2|ribosylnicotinamide kinase 2|ribosylnicotinic acid kinase 2 protein-coding 1313694 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) The product of this gene belongs to the integrin beta chain family of proteins. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. This gene encodes the integrin beta chain beta 2. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Defects in this gene are the cause of leukocyte adhesion deficiency type I (LAD1). Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1581183,1581184,1581185,1358329,2300381,1600220,1580863 11745332,11714770,11703955,11700305,11544294,11477072,11353828,11279101,10961871,10906324,10846180,10845911,10835351,10830953,10766246,10712675,10602019,10591186,9884339,9786897,9736715,9442085,9373149,8995416,8757599,8649427,8568270,8125298,7822326,7686755,7642561,7621072,7514637,3594570,3305706,3073708,3028646,2954816,2454931,2150484,14722085,14702343,14702039,14676297,14576361,14512306,13679375,12960243,12952972,12885870,12878157,12847278,12824186,12816955,12771186,12760968,12731070,12694184,12682249,12676940,12643440,12617168,12600815,12576754,12529399,12516552,12477932,12444150,12393547,12390020,12379807,12377941,12377937,12377933,12377763,12368274,12324470,12244179,12207338,12200369,12183834,12171996,12163503,12145463,12139949,12097820,12082592,12056825,12055249,12050191,11986332,11967116,11953106,11937543,11935032,11931654,11922836,11914080,11896403,11882363,11843895,11838958,11831866,11823004,11818440,11781316,11753075,11751951,19139946,19136961,19135988,19086264,19073595,19056482,19029120,18955128,18941116,18922916,18842294,18829897,18820737,18818407,18802065,18789886,18755982,18714035,18685529,18676132,18675632,18644795,18636124,18617697,18568448,18550856,18509085,18495784,18414903,18397383,18375764,18369341,18367725,18322203,18306933,18279666,18199704,18191791,18174366,18164590,18076013,18065787,18057877,18032709,17996943,17900957,17875809,17726152,17721605,17719638,17716608,17703412,17676580,17673459,17644514,17635865,17591777,17531998,17522381,17468108,17346796,17311314,17222807,17107954,17016617,16963453,16915040,16901728,16846215,16782049,16774752,16764927,16506060,16505487,16492228,16467205,16415171,16403785,16344560,16335952,16239529,16037628,15965234,15958383,15802551,15741160,15665082,15641787,15615722,15558232,15489334,15485828,15454120,15328156,15304494,15294914,15258348,15241561,15235127,15187162,15181567,15090462,14769799,14748512,16831868,12885943,1694220,18029348,11857637,19423540,19420105,19372141,19360456,19353432,19307784,19290459,19264679,19261694,19258923,19234188,19175917,1968911,1683838,1674496,1590804,1352501,1347532,1346613,8558011,1967280,10352278,8777714,9765275,11707406,10388537,19728062,20580686,21030716,20445017,20511548,20802378,21037509,20826754,18626404,20529581,20628086,20677014,19913121,19800635,20409465,12606711,17321526,19052753,19340879,19353220,19372628,19446361,19568411,19571252,19578796,19617577,19647987,19730683,19750481,19821948,19863185,19864611,20007244,20008295,20033057,20130240,20201926,20233927,20237496,20362473,20406964,20438785,20503287,8706128,9419363,21135163,20739459,21078912,20679211 1581183,1581184,1581185,1358329,2300381,1600220 3689 NM_001127491,NM_000211,NG_007270,AF016894,AL163300,AL773603,AL844907,AL844908,CH471079,X64072,AB208909,AK095992,AK097216,AK097864,AK128344,AK222505,AK303488,AU279404,BC005861,BC021077,CR606739,CR621205,CR624713,DA200537,L78790,M15395,S81234,Y00057 NP_001120963,NP_000202,AAL14027,CAB90553,EAX09381,EAX09382,EAX09383,EAX09384,EAX09385,CAA45427,BAD92146,BAG53190,BAD96225,BAG64523,AAH05861,AAH21077,AAL40068,AAA59490,AAB21404,CAA68266,P05107,Q59H50,Q6PJ75,Q8WWJ8,Q96PT7,ABM83610,ABM86853,ACE87708,ACE87021 Hs.375957 CD18|LAD|LCAMB|LFA-1|MAC-1|MF17|MFI7 OTTHUMP00000115279|OTTHUMP00000115282|cell surface adhesion glycoprotein LFA-1/CR3/P150,959 beta subunit precursor)|cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta|complement receptor C3 beta-subunit|complement receptor C3 subunit beta|integrin beta chain, beta 2|integrin beta-2|integrin, beta 2 (antigen cd18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)|leukocyte cell adhesion molecule CD18|leukocyte-associated antigens CD18/11A, CD18/11B, CD18/11C protein-coding 1345363 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq] 1580489,2300381,1580496,1625134,1580863,2316358,2316360,2316362,2316361 19255147,19245802,19238444,19235843,19230252,19212638,19212436,19207108,19205270,19197137,19184277,19141530,19132198,19131662,19123042,19118218,19118033,19117493,19110485,19106083,19104837,19074851,19072566,19071013,19061491,19037107,19019827,19018779,19017937,19008959,19001202,18989530,18979363,18978678,18974842,18936436,18930220,18927546,18927433,18854176,18841997,18836731,18836720,18832906,18826388,18824633,18821851,18814143,18803625,18796633,18791937,18728123,18712091,18709641,18685811,18674955,18673340,18665040,18657307,18648521,18641368,18638089,18635536,18577523,18573917,18550570,18549690,18516040,18513389,18512729,18503143,18484951,18458155,18441324,18433460,18419255,18405917,18399841,18396070,18383324,18375753,18364349,18353785,18353318,18345483,18343248,18334487,18331836,18331351,18321071,18317590,18316775,18312855,18310319,18260892,18247041,18237139,18230083,18214290,18211801,18208809,18201749,18200665,18191725,18175315,18174155,18162078,18160589,18160561,18156175,18088350,18084301,18067652,18065693,18064323,18062611,18057877,18056258,18045938,18045606,18045240,18041653,18035074,18031296,18021403,17959856,17957566,17954176,17928472,17912026,17907177,17855352,17854909,17827388,17763154,17728329,17714854,17681328,17679464,17665449,17644514,17642204,17641225,17635696,19559392,19530321,19526385,19515580,19475568,19463119,19463111,19461049,19395327,19390575,19388931,19374152,19371633,19368146,19361361,19350519,19345676,19336370,19336355,19334037,19329429,19286442,19279667,19264973,19263529,19262211,17621633,17615290,17607710,17561290,17559347,17556058,17550972,17538005,17515951,17483236,17482311,17468108,17446174,17439948,17432927,17414216,17406648,17376438,17369840,17357883,17346829,17337041,17334320,17332246,17320454,17290027,17278970,17272505,17264806,17258347,17230042,17220212,17206538,17203304,17203213,17196570,17175151,17160992,17158881,17111197,17092301,17074516,17034033,17032655,17138951,16969099,16935858,16905953,16895913,17127487,16879215,16877710,16875034,16859511,16831169,16822941,16818691,16790523,16756721,16731529,16724005,16723352,16721604,10982404,10964931,10896934,10837460,10835423,10749942,10497223,10438928,10397733,10391209,10233432,10037797,9916748,9790984,9686320,9684783,9517988,9376589,9256940,9215749,9195946,9030514,8831898,8781422,8757599,8663236,8649427,8631894,8400294,8387021,8298129,8244378,8198553,8132570,8093349,7878622,7694683,7690138,7682219,7593198,7539135,7532190,3828395,3801670,3494014,3165296,2787511,2565345,2478219,2454952,2392682,2345548,2341395,2202737,2145280,2001252,1967954,11812069,11807098,11776310,11723131,11714857,11704375,11686325,11683411,11588040,11583324,11577104,11568114,11546839,11545752,11533523,11460491,11454259,11447076,11397354,11341749,11331301,11257275,11235724,11151063,11053714,11028489,1953640,1694173,1602006,1549507,1430225,1429573,1382574,1371279,16339753,16166568,11238109,11927607,9169439,11877390,12606711,8132607,2138612,1693624,10964917,15156152,16702043,16676352,16675000,16636497,16635210,16634766,16582881,16573563,16567932,16513293,16504741,16469512,16444441,16412752,16407244,16400188,16385340,16380674,16359515,16357324,16353042,16340127,16335952,16322781,16322334,16317580,16317099,16307159,16263699,16248996,16228296,16213489,16195248,16158739,16157382,16153930,16150802,16133898,16115959,16113799,16105876,16102042,16100725,16091654,16051597,16035619,16005200,15998788,15990752,15978110,15976180,15970922,15921657,15917997,15890274,15886806,15863506,15847651,15842360,15840736,15834589,15834425,15826939,15817799,15795319,15748237,15730528,15705408,15701721,15701653,15699036,15695828,15676177,15663601,15638730,15634267,15627799,15609125,15590407,15583747,15575508,15565371,15564935,15546585,15509546,15489334,15468167,15456946,15355504,15355503,15344881,15331787,15299032,15227729,15226180,15219201,15187087,15178823,15166949,15166947,15166939,15166241,15147527,15134555,15131115,15076187,15056669,15045135,15044441,14992889,14987913,14966135,14963283,14746139,14691579,14691438,14690453,14681220,14675395,14669168,14634961,14629479,14614355,14593208,14557872,14525764,14524530,14521607,14517343,14499914,13678940,12957761,12952967,12941045,12932598,12911597,12902636,12902444,12899665,12874388,12871600,12871468,12855229,12827240,12826159,12818251,12818249,12807887,12799374,12791034,12771130,12765524,12750158,12738509,12736272,12730600,12720308,12719784,12716314,12714203,12694355,12691260,12690916,12690117,12682293,12668663,12665801,12660257,12645863,12639965,12637342,12609844,12586134,12578602,12553378,12518110,12514663,12511588,12499711,12486108,12460991,12427871,12426312,12399420,12393510,12372811,12372469,12372433,12370491,12364323,12362250,12358597,12353082,12297512,12237321,12237112,12218055,12210725,12209993,12200372,12198771,12168086,12161360,12152651,12152649,12140290,12083483,12082592,12082590,12073410,12071877,12049640,12038797,12036875,12031826,12008962,11994301,11962738,11959660,11953315,11940607,11934894,11932255,11897046,11891802,11884718,11875117,11867691,11864709,11858493,11858476,11812775,20717043,20739287,20802378,20828133,20846430,20873239,21034162,21039385,21044892,19038456,20020534,20702409,21054877,21080081,20546203,19778317,20565758,20002543,20106508,19562259,17630485,17146626,16716076,11606749,1438206,2452834,10429193,15215180,3607284,10605720,19637098,19588468,19570064,20584077,19913121,20485444,20519501,20532885,20554778,20592457,20600001,20628086,20634891,20667040,20673868,20691446,20739877,20033473,20477989,20230421,20638909,20819594,20929856,21071690,10022831,10640428,10684262,10747940,10822899,10848816,11279932,11470407,11739968,12477932,12535520,14681217,15067009,15897908,15968394,16005629,16051604,16275649,16581250,16933105,1693626,17218263,18310446,19232685,19267251,19336737,19350618,19366731,19469865,19487690,19527712,19527732,19541645,19546854,19604247,19617625,19630800,19633306,19635510,19654300,19656390,19670701,19691478,19695571,19702628,19704023,19729601,19730003,19740098,19751734,19757325,19765213,19789190,19804783,19805198,19808093,19808644,19815712,19816083,19821948,19824427,19837659,19860767,19863457,19876733,19882657,19888429,19889638,19903699,19906129,19923980,19934566,19948007,19956635,19959486,19996122,20048261,20075254,20076847,20078877,2010551,20149160,20161734,20162297,20181715,20192979,20204402,20237496,20306691,20308600,20363746,20369606,20379614,20406466,20425806,20452482,20458832,20538554,7505120,7592818,8467233,8798654,8837777,20857483,21135163,20339539,20438394,20679525,20826760,21091771,21109038,20138334,20595101,20615878 1580489,2300381,1580496,1625134,2316358,2316360,2316362,2316361 3690 NM_000212,NG_008332,AC068234,CH471231,DQ454156,L28832,M32686,M57494,S49379,U03881,AY826979,BC127666,BC127667,BE389074,BE893993,BG170864,BQ437000,J02703,M20311,M25108,M35999,S70348,U95204 NP_000203,EAW57679,EAW57680,EAW57681,EAW57682,ABE67092,AAA20880,AAA67537,AAA52600,AAB23689,AAA16076,AAX33645,AAI27667,AAI27668,AAA52589,AAA60122,AAA36121,AAA35927,AAB30847,AAB71380,P05106,Q16157,Q1PBM2,Q2YFE1 Hs.218040 CD61|GP3A|GPIIIa integrin beta-3|platelet glycoprotein IIIa|platelet membrane glycoprotein IIIa 1643091 BP90_H protein-coding 1320718 ITGB3BP integrin beta 3 binding protein (beta3-endonexin) 12787561,14960584,15721744,16252010,16630834,20379614,10490654,7593198,18521086,16710414,16622420,16622419,16189514,15489334,15254226,15082778,12477932,12244126,11864709,11713274,10673397,10579726,9182673,16169070,18029348 23421 NM_014288,AL592218,BX004807,CH471059,AF175306,AK309622,AK312944,BC009929,BC014385,CR596268,CR602272,U37139 NP_055103,CAI18958,CAI18959,CAI15771,CAI15772,EAX06561,EAX06562,EAX06563,EAX06564,EAX06565,EAX06566,EAX06567,AAF00239,BAG35785,AAH09929,AAH14385,AAC50294,AAC50295,Q13352 Hs.166539 CENP-R|CENPR|HSU37139|NRIF3|TAP20 OTTHUMP00000015410|beta 3 endonexin|beta-3-endonexin|centromere protein R|integrin beta-3-binding protein|nuclear receptor-interacting factor 3 protein-coding 733257 ITGB4 integrin, beta 4 Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 729025,2300381,1580863 10504457,10484780,10477766,10428948,9892956,9837976,9792864,9660880,9546354,9428518,9422533,9374518,9344615,9207246,9194858,9171350,9166594,8444901,7982032,7556090,2542022,2311578,2070796,1976638,12119179,9500991,2649503,2138612,1693624,20510671,20307589,16878156,20364299,11375975,2311577,7545057,19151752,19138983,19124484,19094228,19087978,19074885,19061949,19005215,18974120,18971471,18959757,18955862,18940803,18824633,18550570,18348258,18299254,18281537,18270579,18224668,17964297,17711859,17515951,16965770,16964243,16914518,16870608,16740748,16713569,16707493,16537545,16436605,16335952,16258729,16007143,15951569,15817481,15707651,15611341,15579904,15542431,15387376,15381079,15367640,15304080,15302884,15194479,15161909,15121854,15009117,14602071,14517202,17314405,14512419,12919677,12865436,12694355,12499048,12485428,12477932,12429829,12397374,12168086,12167101,12110680,12107410,12105188,12023052,11886501,11884516,11848444,11809527,11733063,11684709,11389095,11328943,11320086,11289717,11251584,11044453,10873890,10811835,10792571,10727209,10711425,10671376,10637308,12441134,20512931,19913121,20603614,20628086,20509141,12482924,12802069,14668477,16581764,16757171,18814027,19242489,19403692,19567674,19586553,19597468,19670701,19710103,19923172,20936779,20937830,20729552,20855525 729025,2300381 3691 NM_001005731,NM_001005619,NG_007372,AC087749,AF011376,AJ251004,CH471099,U66541,Y11107,NM_000213,AB208913,AF011375,AI318403,AK304792,AK310952,BC109238,BC118916,BC126411,BC143738,BC143742,CA391583,X51841,X52186,X53587 NP_000204,NP_001005731,NP_001005619,AAB65422,CAB61345,EAW89305,EAW89306,EAW89307,EAW89308,EAW89309,EAW89310,EAW89311,EAW89312,EAW89313,EAW89314,EAW89315,AAC51632,AAC51633,AAC51634,BAD92150,AAB65421,BAG65542,AAI09239,AAI18917,AAI26412,AAI43739,AAI43743,CAA36134,CAA36433,CAA37656,A0AVL6,P16144,Q0VF97,Q2VP98,Q59H46 Hs.632226 CD104 CD104 antigen|GP150|integrin beta 4|integrin beta-4|integrin beta-4 subunit protein-coding 1349145 ITGB5 integrin, beta 5 1580863,2300381 20431064,19502044,19255147,18844213,18648521,18590706,18550570,18445685,18162078,17963729,17074516,16675963,16672769,16614246,16385340,16005200,15979906,15866865,15489334,15456946,15156152,14741360,14702039,12769841,12606711,12477932,12358597,12356872,12270930,11934885,11462216,11435317,11331301,11287419,11278329,11162558,11146654,10995448,10579726,10537314,10438928,9531507,9443892,9442085,8886177,8757599,7689573,7682219,7592829,2371275,2328726,2211615,1918165,1694173,11927607,12459484,20719960,19913121,20026907,20507994,20615244,20628086,20400979,11877043,14627618,16355270,19267182,19695571,19910644,20237496,21098231,16878156,19811096 2300381 3693 NM_002213,AC022336,AC026342,CH471052,EU332848,AK054968,AK130168,AK309551,AK315429,BC006541,CR609293,J05633,M35011,X53002 NP_002204,EAW79405,EAW79406,ABY87537,BAG37817,AAH06541,AAA59183,AAA52707,CAA37188,P18084,ABM83704,ABM87024 Hs.536663 FLJ26658 integrin beta-5 protein-coding 1346382 ITGB6 integrin, beta 6 1580863,2302245,2302244,2300381 11821050,11807098,11668187,11407978,11230166,11095652,11076863,11029766,10906324,10721002,10025398,9741315,9252563,8120056,8081887,7959743,7626292,7537970,1729173,1532572,1382574,8798654,11992542,20889853,12177807,2365683,19590686,19088289,18698261,18349127,17684544,17438134,17275949,16381901,16024014,16005200,15828940,15815621,15489336,15489334,15458435,15194773,12917446,12634787,12477932,20554778,20628086,19913121,18221819,19448673,19549907,19581046,19910543,19920174,20237496,20418489,20854469 2302245,2302244,2300381 3694 NM_000888,A26609,AC080166,AC092153,CH471058,S49380,AK290300,AK304203,AK308325,AK313944,AL831998,BC121178,BC143656,M35198 NP_000879,CAA01832,AAY24053,AAX93093,EAX11390,AAB23690,BAF82989,BAG65080,BAG36662,AAI21179,AAA36122,P18564,CAL38675 Hs.470399 OTTHUMP00000205128|OTTHUMP00000207333|integrin beta-6 protein-coding 1343409 ITGB7 integrin, beta 7 1580863,2300381 16818733,16177076,15749880,15699171,15663557,15489334,15448154,14608374,12682249,12606711,12477932,11781567,11160270,11035069,10837471,10790430,9765275,9655832,16874740,9233649,1777426,14681217,2040616,18829455,17490615,17325197,8119947,7689608,7509610,2083230,1382574,1372909,1373725,1543919,19933330,15225631,19699211 2300381 3695 NM_000889,AC073573,CH471054,L23823,S49378,AK298239,AK300960,AK301523,AK311703,BC015916,CR610718,M62880,M68892,S80335 NP_000880,EAW96675,AAA36118,AAB23688,BAH12742,BAH13382,BAH13505,AAH15916,AAA59185,AAA59184,AAB21332,P26010,ABM86374,ABW03787 Hs.654470 gut homing receptor beta subunit|integrin beta 7 subunit|integrin beta-7 protein-coding 1322799 ITGB8 integrin, beta 8 This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1580863,1358329,2300381 1918072,18549475,16702213,12875973,12853948,12690205,12477932,12324452,11970960,11156415,9847074,9252563,7525578,20519498,19267251,19920174,20019187,20237496,20379614 1358329,2300381 3696 NM_002214,AC004130,CH236948,CH471073,AB209429,AK295044,AW516961,BC002630,BC042028,BI861225,BT006739,M73780 NP_002205,AAQ96845,AAQ96846,EAL24275,EAW93724,EAW93725,BAD92666,BAG58095,AAH02630,AAP35385,AAA36034,P26012,Q59FN1,Q9BUG9 Hs.592171 integrin beta-8 protein-coding 1348863 ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) 1580863 10051402,19240061,14702039,12477932,12364586,19913121,20628086 9358 NM_004791,AE014293,AL139800,AL160153,AL355807,CH471085,AB008375,AF072752,AK075136,AK095875,AK291340,AK297744,AK298571,AK308194,BC036788 NP_004782,AAN16024,CAH71455,CAH73400,CAI14550,EAX09052,EAX09053,BAA22994,AAD17666,BAG53153,BAF84029,BAG60094,BAG60764,AAH36788,O14549,O95965 Hs.696554 OSCP|TIED ITGBL1, integrin beta-like 1|integrin beta-like protein 1|osteoblast-specific cysteine-rich protein|ten integrin EGF-like repeat domain-containing protein|ten integrin EGF-like repeat domains protein protein-coding 1314518 ITIH1 inter-alpha (globulin) inhibitor H1 1580863 2446322,14718574,19416921,19367581,18226209,17675295,15489334,14760718,12754519,12477932,11807786,10100603,9756925,9692908,9677337,9425062,7681778,7592891,7535743,7522574,7513643,7505744,7504674,3663330,2476436,2471637,2465147,1385302,1384548,1380832 3697 NM_002215,AC006254,CH471055,X69532,X75318,AK292750,AK298398,AK298423,AK298455,AK303110,AK303156,AK314198,BC069464,BC109115,CR602479,CR615727,M18192,X16260,X63652,NG_016005,NM_001166434,NM_001166435,NM_001166436 NP_002206,EAW65259,EAW65260,EAW65261,CAA49279,CAA53067,BAF85439,BAH12775,BAH12785,BAH12794,BAH13902,BAH13906,BAG36876,AAH69464,AAA60557,CAA34346,CAA45188,P19827,NP_001159906,NP_001159907,NP_001159908 Hs.420257 H1P|IATIH|IGHEP1|ITIH|MGC126415|SHAP ITI heavy chain H1|ITI-HC1|inter-alpha (globulin) inhibitor, H1 polypeptide|inter-alpha-inhibitor heavy chain 1|inter-alpha-trypsin inhibitor complex component III|inter-alpha-trypsin inhibitor heavy chain H1|serum-derived hyaluronan-associated protein protein-coding 1345234 ITIH2 inter-alpha (globulin) inhibitor H2 1580863 16712791,14718574,18425383,18382897,16702221,16335952,15840581,12754519,12477932,10100603,9677337,9514613,9425062,9373149,8601712,8125298,7682553,7516184,7513643,7504674,3663330,2476436,2465147,2462430,2450046,2446322,1385302,1384548,16169070,10917520,12068291,14744536,16385451,20297716 3698 NM_002216,AL158044,CH471072,AA406494,AK225277,AK225329,AK291379,AK297334,BC132685,BG617651,CB154170,CR624216,M18193,M33033,X07173 NP_002207,CAI12956,CAI12957,CAI12958,EAW86376,EAW86377,EAW86378,BAF84068,BAG59791,AAI32686,AAA60558,AAA59195,CAA30160,P19823,Q5T985 Hs.75285 H2P|SHAP ITI heavy chain H2|ITI-HC2|inter-alpha (globulin) inhibitor, H2 polypeptide|inter-alpha-inhibitor heavy chain 2|inter-alpha-trypsin inhibitor complex component II|inter-alpha-trypsin inhibitor heavy chain H2|serum-derived hyaluronan-associated protein protein-coding 732422 ITIH3 inter-alpha (globulin) inhibitor H3 1580863 20515073,16335952,14702039,12477932,11807786,11716497,10893227,10567446,10100603,10037773,9756925,9373149,9359851,8125298,7681778,7522574,2476436,2465147,16344560,2446322,1898736,1385302,14718574,17898697,17211523,14744536 3699 NM_002217,AC006254,CH471055,X99854,AI683095,AK122858,AK222757,AK223483,AK298450,BC107604,BC107605,BC107814,BX448552,BX495022,DA370870,X14690,X67055 NP_002208,EAW65262,EAW65263,CAC79611,BAD96477,BAD97203,BAG60666,AAI07605,AAI07606,AAI07815,CAA32821,CAA47439,Q06033 Hs.76716 H3P ITI heavy chain H3|ITI-HC3|SHAP|inter-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha-inhibitor heavy chain 3|inter-alpha-trypsin inhibitor heavy chain H3|pre-alpha (globulin) inhibitor, H3 polypeptide|pre-alpha-inhibitor, heavy chain 3|serum-derived hyaluronan-associated protein protein-coding 737492 ITIH4 inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein) 633094,1580863,1627650,1582334 18029348,14718574,19367581,19263524,18455532,16335952,16271702,14760718,14661079,12754519,12147176,9756925,9480842,9126497,8797089,7805892,7775381,7587397,7541790,12477932 633094,1627650,1582334 3700 NM_002218,AC006254,CH471055,U43163,AI217735,AK298407,AK298412,AK298429,AK303769,BC136392,BC136393,BX477542,BX647322,CR591457,D38595,AW291001,DC412911,NG_016006,NM_001166449 NP_002209,EAW65264,EAW65265,AAD05198,BAH12780,BAH12781,BAH12787,BAH14043,AAI36393,AAI36394,BAA07602,Q14624,Q68DH2,NP_001159921 Hs.709406 DKFZp686G21125|H4P|IHRP|ITIHL1|PK120 ITI heavy chain H4|ITI-HC4|OTTHUMP00000197121|OTTHUMP00000213834|OTTHUMP00000213869|PK-120|gp120|inter-alpha-inhibitor heavy chain 4|inter-alpha-trypsin inhibitor family heavy chain-related protein|inter-alpha-trypsin inhibitor heavy chain H4|inter-alpha-trypsin inhibitor, heavy chain-like, 1|inter-alpha-trypsin inhibitor, heavy chain-related protein|plasma kallikrein sensitive glycoprotein 120|plasma kallikrein-sensitive glycoprotein 120 protein-coding 1606774 ITIH5 inter-alpha (globulin) inhibitor H5 18810445,17653090,16303743,14744536,14702039,12975309,12477932,11853319,18226209,19809427,16344560,16385451,20200953,20379614 80760 NM_032817,NM_001001851,AL158044,AL355374,CH471072,AB075833,AF318347,AK027375,AK027547,AK027831,AK027849,NM_030569,AK075381,AL079707,AL833203,AY238437,AY358426,BC004282,BC050649,BC069714,BC142961,BE898209,CR627109,BC136439,BQ183379,DA246953,DA839345,DB079183,DA833541 NP_085046,NP_116206,NP_001001851,CAI12953,CAI12954,CAI12955,CAI16360,CAI16361,CAI16362,CAI16363,EAW86379,EAW86380,EAW86381,EAW86382,EAW86383,BAB85539,AAL55854,BAB55070,BAB55397,BAB55409,AAO49812,AAQ88792,CAH10363,Q5T663,Q86UX2,Q96JV8,Q96JW9,AAI67770 Hs.498586 DKFZp686F0145|ITI-HC5|MGC10848|PP14776|pp14776 ITI heavy chain H5|ITI-HC5|inter-alpha trypsin inhibitor heavy chain precursor 5|inter-alpha-inhibitor heavy chain 5|inter-alpha-trypsin inhibitor heavy chain H5 protein-coding 1345462 ITIH5L inter-alpha (globulin) inhibitor H5-like 12975309 347365 NM_198510,AL022575,CH471154,Z98046,AY358170,CA413764,NG_013240 NP_940912,CAI42356,EAW93186,EAW93187,EAW93188,CAI42344,AAQ88537,Q6UXX5,AAI56206,AAI57043 Hs.454272 UNQ6369|dJ14O9.1 ITI-like protein|inter-alpha inhibitor H5-like protein|inter-alpha-trypsin inhibitor heavy chain H5-like protein protein-coding 1323169 ITK IL2-inducible T-cell kinase This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq] 1580863 8364206,11048639,17652306,19240061,19222422,18443296,18322190,17897671,17724684,17237383,17192257,17060314,16931156,20457812,15761153,16159638,15489334,15184383,15144186,12573241,12477932,12445832,12186560,12163161,11830645,11598012,11581171,11437596,10958690,10636929,10587356,10586033,10556826,10506192,10048424,10022833,9312162,8992971,8985255,8810341,8630736,8629002,8504851,7829087,7567982,8892607,15388330,9677430,19425169,19523959,19535334,19701889,19714314,19717557,19807924,20439541,20305788,20098747 3702 NM_005546,AC010609,CH471062,AB209622,AK303609,AK311654,AK312846,BC109077,BC109078,BX538196,D13720,NG_016276 NP_005537,EAW61608,BAD92859,BAG64622,BAG35699,AAI09078,AAI09079,CAD98063,BAA02873,Q08881,Q59F39,Q7Z318 Hs.558348 EMT|LYK|MGC126257|MGC126258|PSCTK2 T-cell-specific kinase|homolog of mouse T-cell itk/tsk|kinase EMT|tyrosine-protein kinase ITK/TSK|tyrosine-protein kinase LYK protein-coding 1346201 ITLN1 intelectin 1 (galactofuranose binding) 1580863 19913121,20628086,20682687,16531507,19179460,19000584,18832735,18587394,18174521,17329619,17311679,17295929,16386808,16261254,15777968,15489334,14720597,14702039,12975309,12477932,11747454,11313366,11181563,9373149,8125298,20129687,19665576,20852028,20823688,17207965,19760754,21072187,20014019,20473688 55600 AY358359,AY549722,AY619691,AY619692,BC020664,CR457224,AL354714,CH471121,AB036706,AF271386,AK000029,AK222533,AY065972,AY157361,AY157362,NM_017625 AAO17801,AAQ88725,AAS49907,AAU88047,AAU88048,AAH20664,CAG33505,Q5IWS5,Q8WWA0,ACE87701,ACE87013,ADQ32186,CAH72357,EAW52688,EAW52689,EAW52690,BAA96094,AAM20741,BAA90893,BAD96253,AAL58073,AAO17800,NP_060095 Hs.50813 FLJ20022|HL-1|HL1|INTL|ITLN|LFR|hIntL|omentin ITLN-1|endothelial lectin HL-1|galactofuranose-binding lectin|intelectin-1|intestinal lactoferrin receptor protein-coding 1353033 ITLN2 intelectin 2 1580863 18029348,12975309,12477932,11181563,19913121,20628086,20682687 142683 NM_080878,AL354714,AL591806,CH471121,AY065973,AY358905,BC117225,BC143339,BC143341 NP_543154,CAH72351,CAI15364,EAW52685,AAL58074,AAQ89264,AAI17226,AAI43342,Q17RR2,Q8WWU7,ADR82947 Hs.385631 HL-2|HL2 endothelial lectin HL-2|intelectin-2 protein-coding 1354301 ITM2A integral membrane protein 2A 1580863 15983050,16344560,19541402,10432285,9892734,9653160,9373149,8702637,8570611,8125298,18029348,18391951,15772651,15489334,12975309,12477932,11042152 9452 BM561934,DA365726,NG_016412,NM_001171581,CR606722,CR609050,CR611328,CR618850,CR621564,U38439,CR604015,CR594227,NM_004867,AL009028,AL021786,CH471104,AB209310,AF038953,AK223327,AK303238,AK313154,AY359051,BC010511,BC034485,BC040437,BG506587,CR456875,CR591355 NP_001165052,O43736,Q53FG2,Q59FZ9,Q6IBC9,ABZ92512,NP_004858,CAI42363,CAI43020,EAW98590,EAW98591,BAD92547,AAC39867,BAD97047,BAG64324,BAG35972,AAQ89410,AAH40437,CAG33156 Hs.17109,Hs.694944 BRICD2A|E25A BRICHOS domain containing 2A|integral membrane protein 2A protein-coding 1353059 ITM2B integral membrane protein 2B 1580863,1358403 19072909,19849849,20036644,10391242,19366692,18524908,18282158,17965014,16612984,16344560,16027166,15983050,15968464,15489334,14656991,14586629,12903036,12477932,12196136,12082633,10931946,10781099,9795190,5466275,18029348,21048150,18440095 1358403 9445 NG_013069,CR620534,CR620837,CR621556,CR621906,CR625796,CR626358,DA087198,NM_021999,AL139322,AY341247,CH471075,AF086918,AF092128,AF136973,AF152462,AF246221,AK000503,AK027411,AK130048,BC000554,BC016148,BC018053,BT006863,CR590893,CR592908,CR593958,CR594037,CR594079,CR594256,CR595747,CR598047,CR599660,CR599825,CR599884,CR603570,CR606888,CR608090,CR610320,CR610712,CR612400,CR613483,CR617212,CR618055,CR619102 Q5W0A3,Q7Z528,Q96B24,Q9NX12,Q9Y287,ABM92208,ABM84685,NP_068839,CAH71156,CAH71157,AAP88930,EAX08788,EAX08789,EAX08790,EAX08791,AAP97148,AAD40370,AAG49434,AAD45280,AAF66130,BAA91210,AAH00554,AAH16148,AAP35509 Hs.643683 ABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD ABri/ADan amyloid peptide|BRICHOS domain containing 2B|integral membrane protein 2B|transmembrane protein BRI protein-coding 1319877 ITM2C integral membrane protein 2C 1298632,1580863 11256614,16341674,16303743,16189514,15606899,15489334,14702039,14592447,12477932,11290423,11230166,11042152,9653160,9373149,8702637,8125298,7938007,7757816,7566098,16169070,17215244,18452648,19366692,19849849,19851296,20198315,17207965 1298632 81618 NM_030926,NM_001012516,NM_001012514,AC012507,CH471063,AB003629,AF271781,AF272043,AK056321,AK075361,AK090975,AK126739,AK222697,AK307702,AL136603,AL713651,AY049777,BC002424,BC025742,BC050668,BC098563,BM842614,CR457208,CR593830,CR594449,CR598205,CR600331,CR600725,CR603208,CR604981,CR611572,CR612131,CR613799,CR614347,CR615397,CR619124,CR749389,D87062,AK295503,AK303199 NP_112188,NP_001012534,NP_001012532,EAW70934,EAW70935,EAW70936,EAW70937,EAW70938,BAB46927,AAG44792,AAF89492,BAG51676,BAC11570,BAC03562,BAD96417,CAB66538,CAD28460,AAL15434,AAH02424,AAH25742,AAH50668,AAH98563,CAG33489,BAB46918,Q96JS4,Q9NQX7,ACE87209,ACE87232,ACE86530,ACE87660,ACE86970,BAG58423,BAG64290,ADQ33057 Hs.111577 BRI3|BRICD2C|E25|E25C|ITM3 BRICHOS domain containing 2C|OTTHUMP00000204435|OTTHUMP00000204436|cerebral protein 14|hRPC.1050_D_4|integral membrane protein 2C|integral membrane protein 3|transmembrane protein BRI3 protein-coding 1348154 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) The protein encoded by this gene hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The encoded protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding. [provided by RefSeq] 1300199,1580863 20637204,17113761,12384777,19579612,19229528,19214663,19193698,19129747,18823306,18685564,18240903,18223458,17697198,17530705,17304144,17138556,17077483,16947783,16611274,16431304,16214825,15973722,15946879,15571266,15571265,15564886,15489334,15322947,15167706,12477932,12436200,11780052,11278832,1667585,1204209,487601,19631656,19682085,19858780,19914375,19956635,20045992,20173735,20308917,20393862,20547162,18029348,20977565 1300199 3704 NM_033453,NM_181493,NG_012093,AB196785,AL109976,AL121891,CH471133,AB062127,AF026816,AF063607,AF219116,AF334680,AK309165,BC010138,BM560812,CR591168,CR595616,CR607092,EF199841,EF213026 NP_258412,NP_852470,BAD81025,CAC16798,CAI19399,EAX10540,EAX10541,EAX10542,BAB93459,AAB82608,AAG43165,AAK21848,AAL57168,AAH10138,ABP01354,ABO70316,Q5NT82,Q8WWI0,Q9BY32,ABM87124,ABW03835 Hs.415299 C20orf37|HLC14-06-P|ITPase|dJ794I6.3 My049 protein|inosine triphosphatase-A|inosine triphosphate pyrophosphatase|inosine triphosphate pyrophosphohydrolase|nucleoside triphosphate diphosphatase|putative oncogene protein HLC14-06-P protein-coding 1312967 ITPK1 inositol 1,3,4-triphosphate 5/6 kinase 1580863 8662638,17616525,16189514,15837423,15762844,15489334,12925536,12477932,12324474,11909533,11533064,11042108,19724895,19851296,20198315,20379614 3705 NM_014216,NM_001142593,NM_001142594,AL110118,AL117192,CH471061,AA770154,AF279372,AK293515,AY129028,BC003622,BC007428,BC018192,BC037305,BQ434653,BX420122,CB997740,CR591450,CR594461,CR601388,U51336 NP_055031,NP_001136065,NP_001136066,EAW81507,EAW81508,EAW81509,EAW81510,EAW81511,EAW81512,EAW81513,AAG44835,BAG56998,AAM98771,AAH03622,AAH07428,AAH18192,AAH37305,AAC50483,Q13572,Q8N3Y0,ABM82360,ABM85535 Hs.308122 ITRPK1 inositol 1,3,4-trisphosphate 5/6 kinase|inositol 1,3,4-trisphosphate 5/6-kinase|inositol-tetrakisphosphate 1-kinase|inositol-triphosphate 5/6-kinase|ins(1,3,4)P(3) 5/6-kinase protein-coding 732603 ITPKA inositol 1,4,5-trisphosphate 3-kinase A Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro. ITPKA and ITPKB are 68% identical in the C-terminus region. [provided by RefSeq] 1580863,1300048 1654894,1847047,2176078,16525636,15489334,15350214,12747803,12477932,12202356,11468283,9374536,9155020,2824270,2175886,2167676,1660262,1330886,18498254,20022963 3706 NM_002220,AC087721,CH471125,BC026331,X54938 NP_002211,EAW92493,AAH26331,CAA38700,P23677 Hs.2722 IP3-3KA|IP3KA IP3 3-kinase A|IP3K A|inositol-trisphosphate 3-kinase A|insP 3-kinase A protein-coding 1345915 ITPKB inositol 1,4,5-trisphosphate 3-kinase B The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq] 1580863 19913121,20628086,1654894,16740130,16710414,16354157,16189514,15489334,14702039,12747803,12477932,11846419,11104677,9374536,8889548,2176078,1330886,20379614 3707 NM_002221,AL365444,BX537724,CH471098,AJ242780,AK025304,AK095901,AK289700,AK313801,AY513281,BC015009,BM972039,BQ434913,BQ434930,X57206,Y18024 NP_002212,CAH70187,CAH70188,EAW69793,CAC40650,BAF82389,BAG36537,AAT08034,AAH15009,CAA40491,CAB65055,P27987,Q2TU82 Hs.726323,Hs.659396 IP3-3KB|IP3K|IP3K-B|IP3KB|PIG37 IP3 3-kinase B|IP3K B|OTTHUMP00000035705|inositol-trisphosphate 3-kinase B|insP 3-kinase B|proliferation-inducing protein 37 protein-coding 1345351 ITPKC inositol 1,4,5-trisphosphate 3-kinase C Inositol 1,4,5-trisphosphate 3-kinase (ITPK) catalyzes the phosphorylation of Ins(1,4,5)P3 to Ins(1,3,4,5)P4, both of which are modulators of calcium homeostasis. ITPK isoforms include ITPKA (MIM 147521), ITPKB (MIM 147522), and ITPKC, all of which contain a conserved catalytic unit in their C termini, but have unique N-terminal sequences and tissue distributions.[supplied by OMIM] 1580863 18084290,15489334,12747803,12477932,11085927,16740130,20045869,20379614,20805785 80271 NM_025194,AC010412,AC020945,AC098782,CH471126,AJ290975,AK024596,BC026903,BC060788,D38169,Y11999,NG_012970 NP_079470,EAW56992,EAW56993,CAC40815,AAH60788,BAA22524,CAA72728,Q96DU7 Hs.515415 IP3-3KC|IP3KC IP3 3-kinase C|IP3K C|InsP 3 kinase C|inositol-trisphosphate 3-kinase C|insP 3-kinase C protein-coding 732978 ITPR1 inositol 1,4,5-triphosphate receptor, type 1 1556475,1580863 1693919,7500840,15652484,7852357,19120137,8648241,10828023,11413485,19429868,19325567,20632399,20395455,19934645,20669319,20437544,19147678,18990696,18708078,18657507,18579805,18364356,18303017,18056410,17932120,17690304,17590087,17437169,17256008,17130290,17081983,16844763,16723353,16621795,16344560,16237118,16223735,16091359,15623527,15613488,15148151,15146197,15104175,15067324,14981189,14761954,14707143,14697242,14685260,14635192,14570872,12828938,12766172,12754204,12717445,12676536,12611586,12606542,12529267,12525476,12480535,12477932,12444087,12356940,12196544,12032348,11782428,11723290,11587548,11574661,11524429,11445634,11163362,10874040,10843712,10737800,10724174,10209024,9853757,9808459,9607712,9511764,9346894,8713116,8521476,8132598,8132516,7945203,7559486,16454711,11956293,14505576,16278292,16990611,20082166,20427533,11329013,16990268,19666470,19730683,19854836,20379614,8889548,9278393 1556475 3708 NM_001099952,NM_002222,AC018816,AC024168,AC069248,AC090944,CH471055,AB208868,AI470158,AK293752,AK294594,AK296235,AK309981,AK311008,BC144563,BQ006717,CN431631,CV355426,D26070,DB260851,DB544988,DB576768,L38019,S82269,U23850,AF009963,AL832689,AL832701,AW501800,BG202086,BM695661,DA060305,L47220,NG_016144,NM_001168272 NP_001093422,NP_002213,EAW63908,EAW63909,EAW63910,EAW63911,EAW63912,EAW63913,EAW63914,EAW63915,BAD92105,BAG57174,BAG57782,BAG58955,AAI44564,BAA05065,AAB04947,AAD14386,Q14643,Q59H91,NP_001161744 Hs.567295,Hs.715765 DKFZp313E1334|DKFZp313N1434|INSP3R1|IP3R|IP3R1|SCA15|SCA16 IP3 receptor|IP3R 1|OTTHUMP00000207085|OTTHUMP00000209578|inositol 1,4,5-trisphosphate receptor type 1|type 1 InsP3 receptor|type 1 inositol 1,4,5-trisphosphate receptor protein-coding 734228 ITPR2 inositol 1,4,5-triphosphate receptor, type 2 1580863 19913121,20628086,8081734,19120137,10828023,18936250,18519826,18249094,17827064,17437169,16344560,15342556,14684825,11694504,11336651,11163362,11013462,10970773,10874040,10843712,20935629,20395455,9729462,11413485,11782428,1693919,19193627,19549843,19590686,20379614 3709 NM_002223,AC023051,AC023425,AC024093,AC024145,AC055720,CH471094,AB012610,AK307686,AK307712,AK310504,AL711179,AY429550,BP314401,BP364657,BU173910,BX495410,CR597988,D26350,DB144849 NP_002214,EAW96534,EAW96535,BAA33961,BAA05384,Q14571,AAI72383 Hs.512235 IP3R2 IP3 receptor|IP3R 2|inositol 1,4,5-trisphosphate receptor type 2|insP3R2|type 2 InsP3 receptor|type 2 inositol 1,4,5-trisphosphate receptor protein-coding 733997 ITPR3 inositol 1,4,5-triphosphate receptor, type 3 1580863 20558539,20395455,10611319,8288584,10828023,19193873,19052258,19050248,18826956,18586264,18544901,18539593,18434505,18340361,18275062,18219441,17496801,17437169,17081983,16960798,15623527,15051494,14707143,14702039,14685260,14666665,12606721,12477932,12032348,11524429,11290752,11163362,11149946,11035010,10980191,10874040,10843712,10692497,8388391,8385102,8081734,7559486,19913121,20618519,20628086,20660057,11413485,1693919,19553259,19706527,19730683,19851445,20103623,20379614 3710 NM_002224,AL139044,CH471081,AB209739,AK093524,AL832807,BC146646,CA430212,CR620699,D26351,U01062,NG_027729,HI574292 NP_002215,CAI16455,EAX03744,BAD92976,AAI46647,BAA05385,AAC50064,Q14573,Q59ES2,AAI72406,CBX47635 Hs.65758 FLJ36205|IP3R|IP3R3 IP3 receptor|IP3R 3|Inositol 1,4,5-trisphosphate receptor type 3 (Type 3 inositol 1,4,5-trisphosphate receptor) (Type 3 InsP3 receptor) (IP3 receptor isoform 3) (InsP3R3)|inositol 1,4,5-trisphosphate receptor type 3|insP3R3|type 3 InsP3 receptor|type 3 inositol 1,4,5-trisphosphate receptor protein-coding 1344498 ITPRIP inositol 1,4,5-triphosphate receptor interacting protein 737633 16990268,14702039,12975309,12477932,11214970,16385451,20379614 737633 85450 AL162742,CH471066,AB051541,AK055608,AK056526,AK094802,AY189283,AY358776,BC040536,BC070108,NM_033397,HI574122 Q8IWB1,NP_203755,CAI12108,CAI12109,EAW49596,EAW49597,BAB21845,BAB71204,AAO86727,AAQ89136,AAH40536,AAH70108,Q6Y2K9,CBX47550 Hs.523252 DANGER|KIAA1754|RP11-127L20.4|bA127L20|bA127L20.2 OTTHUMP00000020437|OTTHUMP00000020438|OTTHUMP00000020439|inositol 1,4,5-triphosphate receptor-interacting protein protein-coding 1603562 ITPRIPL1 inositol 1,4,5-triphosphate receptor interacting protein-like 1 16713569,15146197,12477932 150771 NM_001008949,NM_178495,NM_001163523,NM_001163524,AC021188,AI286121,BC034503,BC073153,BI829328,CN263466,CN282838,R37132 NP_001008949,NP_848590,NP_001156995,NP_001156996,AAH34503,AAH73153,Q6GPH6 Hs.65009 KIAA1754L KIAA1754-like|OTTHUMP00000207487|inositol 1,4,5-triphosphate receptor-interacting protein-like 1 protein-coding 1604732 ITPRIPL2 inositol 1,4,5-triphosphate receptor interacting protein-like 2 15146197,14702039,12477932 162073 BX338638,NM_001034841,NR_028028,AC099518,CH471186,AK026647,AK096327,AK097274,BC015343,BC101749,BC101751,BG116542,BX335323,BX382445,CN280807 NP_001030013,EAW50272,AAI01750,AAI01752,Q3MIP1 Hs.530899,Hs.648523,Hs.722565 FLJ22994|MGC126798|MGC126800 inositol 1,4,5-triphosphate receptor-interacting protein-like 2 protein-coding 737072 ITSN1 intersectin 1 (SH3 domain protein) The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq] 1580863 20936779,9799604,12006984,12812986,19356586,19166927,18692052,18539136,17405881,17140284,17081983,16914641,16903783,16874303,16442855,15302935,15203208,14702039,12970366,12960435,12477932,12389031,11690630,11584276,10922467,10830953,10777571,10716926,10482960,10373452,10072581,10064583,9813051,9630982,9465890,11381094,16169070,15256501,11744688,15719014,20946875,19777371,20659428,11756498,12376548,12787561,15231748,15824104,15834155,16696976,18029348 6453 AY138139,AY254341,AY340592,AY340593,AY603418,AY603419,AY605091,AY605092,AY639648,AY639649,AY639651,AY639652,AY639653,BC013578,BC020269,BC039036,BC058925,BC073744,BC116185,BC116186,BC117560,BX538175,DQ340865,DQ386455,DQ679754,DQ679755,DQ679756,DQ679757,EU107386,EU117382,EU120733,NM_003024,NM_001001132,AF064245,AP000308,AP000309,AP000310,AP000311,AP000312,AP000313,CH471079,AF064243,AF064244,AF085873,AF114487,AF114488,AF180522,AI857585,AK027846,AK074554,AK075290,AK300274,EU120734,EU120735,EU120736,EU140799,EU140800,EU152331,EU191901,U61166,GU939616,GU939617,GU939621 BAG62034,AAN11307,AAP13099,AAQ19991,AAQ19992,AAT28305,AAT28306,AAT36645,AAT36646,AAH39036,AAH58925,AAH73744,AAI16186,AAI16187,AAI17561,CAD98050,ABC69037,ABD72328,ABG74695,ABG74696,ABG74697,ABG74698,ABV03351,ABV21755,ABV24866,NP_003015,NP_001001132,AAC80436,AAC80437,EAX09805,EAX09806,EAX09807,EAX09808,AAC78610,AAC78611,AAD29952,AAD29953,AAD53183,ABV24867,ABV24868,ABV24869,ABV58335,ABV58336,ABV69555,ABW71829,AAC50592,Q0PW94,Q0PW95,Q0PW96,Q0PW97,Q14BD3,Q14BD4,Q15811,Q20BK3,Q2LAE2,Q6GMY7,Q6J1T1,Q6J1T2,Q6J333,Q6J334,Q6PD56,Q7Z328,Q7Z452,Q7Z453,Q86VI9,Q8IWH9,Q8IWU0,Q9UET4,ADF97294,ADF97295,ADF97297 Hs.160324 ITSN|MGC134948|MGC134949|SH3D1A|SH3P17 OTTHUMP00000067857|OTTHUMP00000194811|OTTHUMP00000194812|OTTHUMP00000206688|SH3 domain protein-1A|SH3 domain-containing protein 1A|Src homology 3 domain-containing protein|human intersectin-SH3 domain-containing protein SH3P17|intersectin 1 short form variant 3|intersectin 1 short form variant, 11|intersectin short variant 12|intersectin-1 protein-coding 1353883 ITSN2 intersectin 2 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. 1580863 9630982,15231747,17696407,17390067,16394100,16344560,15951569,15592455,15144186,14702039,12766152,12477932,12421765,11748279,11690630,10922467,10574462,9110174,8619474,16169070,20936779,19041431,19622753,19807924,19911011,21107309 50618 NM_006277,NM_019595,NM_147152,AC008073,AC009228,CH471053,AB033082,AF001630,AF038189,AF182198,AF182199,AF248540,AK000302,AK021545,AK025400,AK091859,BC020921,BC038963,BC146779,DA382952,U61167 NP_006268,NP_062541,NP_671494,AAY14668,AAX93122,AAX93123,EAX00750,EAX00751,EAX00752,EAX00753,BAA86570,AAD00899,AAF59903,AAF59904,AAF63600,BAA91068,BAB13841,AAH20921,AAH38963,AAI46780,AAC50593,Q53TK3,Q53TK4,Q53TM3,Q6PJ79,Q8IWI5,Q9NZM3 Hs.432562 KIAA1256|PRO2015|SH3D1B|SH3P18|SWA|SWAP OTTHUMP00000116039|SH3 domain protein 1B|SH3 domain-containing protein 1B|SH3P18-like WASP associated protein|SH3P18-like WASP-associated protein|intersectin-2 protein-coding 1352443 IV inversus situs, viscerum 8114 735606 IVD isovaleryl Coenzyme A dehydrogenase Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300048,1580863,1600039 3446585,2063866,17576084,16376132,15489334,14702039,12665801,12477932,11606439,10713113,10677295,9665741,9214289,9110174,8619474,8468053,8162068,7640268,6401713,2318964,1310317,20877624,20198315,19851296,20519759 1600039 3712 NM_002225,NG_011986,NM_001159508,AC013356,AF038317,AF038318,AF191218,CH471125,AF070531,AI086669,AK022777,AK092168,AK122922,AK315296,AY826821,AY826822,AY826823,BC017202,BT007145,M34192 NP_002216,NP_001152980,AAB92585,AAB92584,AAF20182,EAW92413,EAW92414,EAW92415,BAG53799,BAG37702,AAX18641,AAX18642,AAX18643,AAH17202,AAP35809,AAA52711,O43577,P26440,Q53XZ9,ABM83503,ABM86719 Hs.513646 ACAD2|FLJ12715|FLJ34849 OTTHUMP00000160445|OTTHUMP00000213748|isovaleryl CoA dehydrogenase|isovaleryl Coenzyme A dehydrogenase|isovaleryl-CoA dehydrogenase, mitochondrial protein-coding 1314662 IVL involucrin Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq] 1580863 2461365,10908733,42494,1601889,16639001,19515043,18637039,18259765,18166499,18077140,17968567,17943181,17882273,17662274,17330131,17205062,16982614,16374477,16140218,15805105,15586248,15489334,15304097,15191537,15147942,15044435,15037572,12810719,12477932,12445200,12397374,12126624,11850802,11443109,9804813,9651377,9512462,9159190,9115270,8999895,8554386,8550612,8380829,8276421,7759510,2985954,2873896,19601998,19701759,20208004 3713 NM_005547,AF085346,AL162596,M13902,M13903,M17917,M17918,S52650,S80523,U23404,AK300492,BC046391,BG679040,BM811601 NP_005538,CAI19553,AAA59186,BAG62206,AAH46391,P07476 Hs.516439 involucrin protein-coding 1314824 IVNS1ABP influenza virus NS1A binding protein 20532202,9696811,17996313,16582008,14702039,12477932,11042152,10048485,9847309,16169070,19615732,20379614 10625 AL078644,AL356273,CH471067,AB020657,AF161553,AF205218,AJ012449,AK000931,AK001273,AK001625,AK001824,AK023020,AK023123,NM_006469,AK092912,AK093912,AK292431,AL137640,BC067739,BX648273,BX649183,CR593694,CR621232,DQ443528,DQ443529 NP_006460,CAB72329,CAI17866,CAI17867,CAI22094,EAW91193,EAW91194,BAA74873,AAF29040,AAG43485,CAA10029,BAG50883,BAG51150,BAG52783,BAF85120,AAH67739,CAE46201,ABE03889,ABE03890,Q6MZF3,Q9Y6Y0 Hs.497183 DKFZp686K06216|FLARA3|FLJ10069|FLJ10411|FLJ10962|FLJ35593|FLJ36593|HSPC068|KIAA0850|KLHL39|ND1|NS-1|NS1-BP|NS1BP NCX downstream gene 1|NS1-binding protein|aryl hydrocarbon receptor-associated 3|aryl hydrocarbon receptor-associated protein 3|influenza virus NS1A-binding protein protein-coding 1604340 IWS1 IWS1 homolog (S. cerevisiae) 19141475,17234882,17184735,17081983,16964243,16648364,16565220,16344560,15489334,15302935,14702039,12477932,19615732 55677 NM_017969,AC010976,CH471103,AI638093,AK000868,AK001717,AK027561,AK056881,AK294669,AK295970,AK296848,AK309006,AL834178,BC017012,BC065279,BC110536,BC110537,DA268882 NP_060439,EAW95321,BAA91402,BAA91858,BAB55198,BAB71301,BAG57836,BAG58746,BAG59414,CAD38875,AAH17012,AAH65279,AAI10537,AAI10538,Q7L2V5,Q96ST2 Hs.469879 DKFZp761G0123|FLJ10006|FLJ14655|FLJ32319|MGC126375|MGC126376 IWS1-like protein|interacts with Spt6|protein IWS1 homolog protein-coding 1345868 IYD iodotyrosine deiodinase IYD facilitates iodide salvage in thyroid by catalyzing deiodination of mono- and diiodotyrosine, the halogenated byproducts of thyroid hormone production (Friedman et al., 2006 [PubMed 16316988]).[supplied by OMIM] 19043545,18765512,18434651,17322488,16910871,16316988,15489334,15289438,14702039,14574404,12477932,14671405,19436071,20298747,17207965 389434 AL031010,CH471051,AK129950,AY259176,AY259177,AY424901,AY424902,AY957659,AY957660,AY957661,AY957662,BC056253,NM_203395,AI823392,NG_016007,NM_001164694,NM_001164695 CAI20537,EAW47769,BAC85255,AAP22072,AAP22073,AAR84259,AAR84260,AAY41465,AAY41466,AAY41467,NP_981932,AAH56253,Q2VPV9,Q6PHW0,AAY41468,NP_001158166,NP_001158167,ADQ32120 Hs.310225 C6orf71|DEHAL1|TDH4|dJ422F24.1 IYD-1|chromosome 6 open reading frame 71|iodotyrosine dehalogenase 1 protein-coding 1604485 IZUMO1 izumo sperm-egg fusion 1 The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM] 19658160,15759005,18952059,18082733,17047026,15489334,12477932,21060863 284359 NM_182575,AC009002,CH471177,AB195682,AK301750,AY552609,AY552610,BC034769,BC050460 ABW03608,NP_872381,EAW52395,EAW52396,EAW52397,EAW52398,BAD91012,BAG63212,AAS59145,AAS59146,AAH34769,Q8IYV9,ABM84288,ABM85461,ABM87766 Hs.400688 FLJ61440|IZUMO|MGC34799 OBF|izumo sperm-egg fusion protein 1|oocyte binding/fusion factor|sperm-specific protein Izumo protein-coding 1353888 JAG1 jagged 1 (Alagille syndrome) The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq] 69863,1580651,1334443,2302204,2299152,1582344,1582342,1580863 20040020,9268641,11067884,10679295,8955070,9207788,10329626,12107827,8923452,11549580,11427524,19542446,19453261,19430482,19398721,19393188,19204726,19181211,19150886,19150223,18784255,18632624,18593716,18354251,18266235,18192230,18079963,18060036,17990101,17984306,17822320,17720887,17661408,17507991,17368936,17359939,17301032,16934875,16823852,16791277,16575836,16403414,16307184,16013021,15919944,15905075,15781650,15712272,15489334,15466172,15358557,15280477,15258909,15254769,14769803,14726396,14714274,12842995,12826675,12684674,12649809,12497640,12496248,12482954,12477932,12442286,12427653,12370358,12357247,12297837,12036964,12022040,11999354,11964309,11780052,11745040,11180599,11157803,11152664,11139247,11058898,11006133,10958687,10551863,10533065,20580881,20052673,10220506,10079256,9707552,9585603,9462510,9207787,7697721,11346656,16023595,20554499,19915977,20870935,18563556,19586525,19603167,19728763,19780835,19816565,19935714,19948535,20038814,20096396,20237496,20331378,20437614,20800871,20819075,19913121,20628086,20634891,20683201,20833210 69863,1580651,1334443,2302204,2299152,1582344,1582342 182 NM_000214,NG_007496,AL035456,CH471133,AF003837,AF028593,AI268246,AK302554,AK312722,BC028007,BC098393,BC126205,BC126207,BF056748,U61276,U73936,U77720,U77914 NP_000205,CAC07198,EAX10341,AAC51731,AAB84053,BAG63823,BAG35596,AAH98393,AAI26206,AAI26208,AAB39007,AAC52020,AAC51323,AAC50909,P78504,Q4KMR2,Q99740,ADR83289 Hs.224012,Hs.728366 AGS|AHD|AWS|CD339|HJ1|JAGL1|MGC104644 Alagille syndrome|jagged 1 (Alagille syndrome)|jagged1|protein jagged-1 protein-coding 733495 JAG2 jagged 2 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2302204,1580863,69864,1304492 20572854,20634891,20672350,18439488,16899352,16327884,15292061,12551931,12477932,11006133,10958687,10662552,10079256,9486542,8948600,9315665,10383933,16713569,11056013,10080181,11549580,11700865,10910909,19417136,19054571,19049519,20133585,20237496,20040020,15920166,21048031 2302204,69864,1304492 3714 NM_145159,NM_002226,AF111170,AL512356,CH471061,AB209370,AF003521,AF020201,AF029778,AF029779,BC032053,CR618490,Y14330 NP_660142,NP_002217,AAD15562,EAW81899,EAW81900,EAW81901,BAD92607,AAB61285,AAB71189,AAB84215,AAB84216,CAA74706,Q59FT9,Q9Y219 Hs.433445 HJ2|SER2 protein jagged-2 protein-coding 1342770 JAGN1 jagunal homolog 1 (Drosophila) 737633 16303743,15342556,14702039,12477932,9373149,8125298 737633 84522 NM_032492,AC018809,CH471055,CQ782694,AF212230,AK027508,AK074760,AK225756,BC008507,BC032101,BP262753,CR591616,CR592606,CR598658,CR601340,CR610826,CR615427,CR615913,CR616583,CR621319,CR622444,CR626291,CR626407,CR626609 NP_115881,EAW64015,CAF85930,AAK14916,BAB55163,BAC11188,AAH32101,Q8N5M9,ABM83207,ABM86407 Hs.24054 FLJ14602|GL009 protein jagunal homolog 1 protein-coding 69102 JAK1 Janus kinase 1 Janus kinase 1 (JAK1), is a member of a new class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The second phosphotransferase domain bears all the hallmarks of a protein kinase, although its structure differs significantly from that of the PTK and threonine/serine kinase family members. JAK1 is a large, widely expressed membrane-associated phosphoprotein. JAK1 is involved in the interferon-alpha/beta and -gamma signal transduction pathways. The reciprocal interdependence between JAK1 and TYK2 activities in the interferon-alpha pathway, and between JAK1 and JAK2 in the interferon-gamma pathway, may reflect a requirement for these kinases in the correct assembly of interferon receptor complexes. These kinases couple cytokine ligand binding to tyrosine phosphorylation of various known signaling proteins and of a unique family of transcription factors termed the signal transducers and activators of transcription, or STATs. [provided by RefSeq] 1357935,1625126,1580863,1357942 19913121,20588308,20628086,20697856,8493579,12775419,12777975,12620806,12559972,12551917,12477932,12447867,12374810,12223098,12200137,12133952,12130510,11801527,11786531,11742534,11722592,11557047,11527382,11468294,11418623,11201744,11163768,11162588,11133764,11016959,10993906,10982844,10899310,10875931,10825200,10702271,10586060,10531356,10433356,9774657,9566874,9553136,9516124,9492017,9452495,9446616,9417082,9178903,9020188,8995399,8756628,8702790,8700888,8536716,8272872,8247543,8232552,7973659,7698020,7589562,7512720,7499365,1848670,1581631,1373877,1213395,9510175,12403768,12089333,9388212,7973658,10809230,10954736,9047382,7629131,9774693,11751884,12734330,17353931,11036942,15277531,15063116,18787400,20139093,16474838,16280321,10502458,19559055,19470474,19464057,19457567,19434718,19258923,19239328,19180571,19176360,19139102,19017763,18948751,18789440,18787531,18566411,18559588,18430728,18413761,18362173,18320073,18270328,18266209,18178840,18160671,17982039,17951261,17703412,17686504,17641294,17433443,17158029,16767694,16239216,16102578,15988755,15923602,15894543,15883164,15194700,12960323,20368117,20868368,20974963,10037796,10707961,10856136,10918587,11160325,11294897,11350938,11751854,11839738,11909529,11940572,12163560,12244095,12456798,12576423,12626508,12637327,12738762,12817007,14551213,14674010,14978237,15322115,15526032,15588985,15996891,17290288,18390202,19255588,19604093,19730683,19764985,19802007,19887489,19900094,20052595,20065083,20072651,20128689,20167706,20237496,20379614,20503287,7543024,7657660,7690989,8612580,8626374,8647212,8657151,9133424,9484840,9520455,9597132,20980339,21048031,21051030,20103601,7759950,11694501,7510216 1357935,1625126,1357942 3716 NM_002227,AC093427,AL590436,AL606517,CH471059,AB209057,AB219242,AK128375,AK314257,BC009079,BC023604,BC062431,BC111401,BC132729,BX647675,BX648044,M64174,NG_023402,HC002094 NP_002218,EAX06547,EAX06548,BAD92294,BAE02826,AAH23604,AAH62431,AAI11402,AAI32730,AAA36527,P23458,Q0VGA4,Q4LDX3,Q6P669,Q8IV82,CBG22571 Hs.207538 JAK1A|JAK1B|JTK3 JAK-1|Janus kinase 1 (a protein tyrosine kinase)|tyrosine-protein kinase JAK1 protein-coding 731748 JAK2 Janus kinase 2 This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq] 1300048,1357935,1627655,1627661,1641841,1641809,1600094,1600095,2302071,737719,1624963,1580863,1625125,1625126,737794,1357939 19254349,19913121,20472827,20556390,20588308,20628086,20631743,20650526,20670476,20678218,20681956,20705770,20728437,20621061,20627814,20434300,20228799,17012261,16990780,16990759,16987804,16982687,16959246,16959222,16954506,16932338,16930139,16929538,16926301,16923108,16912864,16904848,16888614,16886215,16885051,16877349,16873677,16871275,16868251,16849644,16847321,16831057,16828865,16804112,16772604,16769584,16762626,16757685,16741247,16728702,16632470,16627272,16620973,16617322,16603627,16598312,16598306,16572200,16572198,16563504,16557239,16537803,16503548,16502590,16497804,16442619,16434499,16434490,16424865,16420986,16373657,16369984,16365288,16293597,16257270,16257269,16247455,16204151,16197451,16174768,16091753,16084495,16084028,16079889,16034466,15988755,15985544,15985214,15927298,15923602,15863514,15860661,15858187,15837627,15805263,15793561,15781101,15688010,15677497,15676212,15666812,15615703,15611059,15604419,15475610,15358195,15322115,15198092,15164053,15156153,15143188,15143187,15121872,14982882,14978237,14565954,14551213,14551204,14522994,14500680,12960006,12817007,12777975,12668872,12637327,12626508,12576423,12552091,12551917,12540842,12538627,12478664,12477932,12456871,12456798,12441334,12370803,12370296,12351625,12244095,12223098,12106016,12023981,12023369,12007403,11971965,11940572,11940567,11934902,11923474,11875116,11839738,11818507,11779507,11731619,11698276,11694501,11679576,11593427,11591716,11585385,11493922,11440634,11438544,11430697,11413148,11373296,11350938,11313464,11294897,11163768,11152457,11134016,11087817,10979953,10954736,10938266,10925297,10918587,10918061,10899310,10872831,10872802,10842319,10842184,10809230,10772872,10757801,10747872,10692450,10635327,10586060,10551884,10531356,10506573,10455176,10421843,10224114,10205168,10198225,10064597,10026141,9837922,9689060,9632636,9618263,9575217,9573010,9553131,9516124,9510175,9492017,9484840,9473212,9452495,9446644,9363897,9355737,9344848,9343427,9326218,9202126,9169451,9162069,9133424,9126968,9111318,9012831,8995399,8943354,8912646,8876196,9727029,11201744,9670957,9590174,16280321,10502458,19643476,19609284,19604233,19603346,19595684,19559071,19549988,19549471,19549399,19549384,19549360,19540590,19531676,19521067,19508864,19503632,19491085,19489438,19474426,19470474,19464057,19462461,19446748,19430293,19375649,19372714,19351817,19350131,19349617,19344365,19336760,19336736,19328546,19299003,19293426,19293402,19287385,19287384,19287382,19287004,19277418,19273837,19261614,19259051,19258923,19258483,19252176,19249008,19236761,19236446,19235016,19234487,19234192,19234114,19229983,19229050,19225136,19223541,19215672,19208099,19196872,19190168,19187074,19181784,19180571,19176988,19176031,19175989,19174256,19167611,19153190,19151790,19151782,19144660,19136931,19135773,19129688,19120368,19120350,19118011,19105233,19105231,19099657,19093167,19088723,19077438,19074595,19074061,19074058,19068216,19047681,19046316,19042918,19017763,19005480,19004076,19003996,18927438,18843287,18841497,18838204,18829531,18829483,18820995,18805579,18802948,18796251,18790796,18781401,18776170,18775810,18771702,18769447,18768782,18766271,18760472,18755984,18754026,18728027,18723264,18720212,18715806,18709972,18701405,18681311,18657084,18644434,18641024,18638010,18632151,18616871,18616510,18612778,18612101,18606683,18600104,18600100,18600099,18594780,18587394,18587010,18575865,18575049,18566540,18555525,18551750,18538168,18528646,18523665,18521518,18519816,18519514,18515659,18503828,18503583,18496561,18482053,18466967,18464114,18461004,18455791,18450736,18426677,18410451,18409076,18398895,18398736,18380991,18380984,18365193,18343999,18336541,18328559,18327418,18326042,18321571,18308368,18306358,18301309,18297539,18297515,18296848,18294066,18292125,18291525,18271926,18270328,18262227,18250227,18245540,18239666,18230964,18223181,18216871,18216297,18200037,18195094,18180923,18166784,18166783,18165278,18160670,18158285,18094555,18092959,18089573,18081705,18079966,18079740,18059484,18059483,18056003,18055983,18055011,18045059,18040685,18035697,18032883,18006699,18003935,18000612,17989398,17984312,17983808,17982107,17976519,17972958,17961178,17949475,17920755,17920754,17919086,17914411,17881638,17875526,17873518,17854308,17851851,17851561,17851549,17849060,17764815,17764814,17761766,17761748,17727557,17726017,17712047,17707884,17706283,17703412,17703302,17689208,17652621,17643100,17639043,17625612,17625610,17625606,17625603,17625156,17613428,17611562,17611555,17597810,17596137,17581610,17577920,17573918,17546465,17540852,17509995,17507998,17507997,17488346,17476276,17476275,17460706,17452518,17443220,17440984,17440677,17439832,17426257,17408106,17403204,17392820,17389763,17389152,17379742,17376889,17363731,17356406,17344916,17344140,17315023,17307838,17296594,17296581,17267906,17266061,17263783,17262192,17249502,17237409,17229652,17229651,17198871,17190855,17169814,17151700,17111143,17110452,17105449,17077140,17068151,17057021,17054914,17052978,17045648,8756581,8702385,8657151,8631962,8626374,8617237,8611693,8609418,8608603,8343951,8063815,7925280,7889566,7812050,7775438,7746328,7690989,7657660,7559603,7543024,7540178,7535773,7534285,7530656,7527392,7514165,7500025,7499845,1848670,1581631,10882725,11713228,10455112,9178903,9211920,8639815,9202403,9553136,9388212,8536716,9047382,11208867,7673114,10358079,11278738,10374881,9038232,19903679,20551270,20139093,20171768,10477722,20503246,20425335,20425393,21180092,8493579,20304997,20616539,20660330,20594592,20615083,20974963,21074499,14968112,16304380,17027227,17474147,18692472,19117597,19167335,19269737,19327411,19329339,19364823,19395028,19440215,19466975,19500139,19541820,19543316,19544471,19562618,19562620,19571317,19572087,19582452,19589925,19604093,19608683,19616600,19657484,19690956,19704259,19705431,19730683,19734476,19741199,19744331,19772888,19773259,19778528,19783980,19801665,19824900,19847198,19847199,19861958,19865112,19877761,19880761,19887489,19900702,19915573,19922437,19929856,19939582,19941738,19942343,19950698,19951533,19965641,19965650,19965680,20008300,20029191,20061559,20072651,20104275,20109474,20113830,20124516,20126644,20128689,20145151,20151976,20153505,20160166,20162546,20182460,20194236,20203004,20214695,20304805,20331577,20331763,20359349,20363735,20379614,20387251,20410924,20417861,20422415,20425802,20472853,20473593,20483636,20489052,20503287,20508616,20536350,20485371,20548334,20621720,20331734,19760754,20628145,20629097,20691622,20880116,20884719,20888389,20890078,20962850,20966521,20980339,21034166,21068102,21072187,20520633,20133898,20652971,19629639,20098747,20667821,20730051,20811399,19799086,20051435,20807819,20943775,21036157,8631301 1357935,1627655,1627661,1641841,1641809,1600094,1600095,2302071,737719,1624963,1625125,1625126,737794,1357939 3717 NM_004972,NG_009904,AL158147,AL161450,AL513350,AY973037,CH471071,EF094945,EF194100,AF001362,AF005216,AF058925,AI923337,AK292525,AK302618,AK308668,AY973034,BC039695,BC043187 NP_004963,CAD13329,AAY16348,EAW58774,ABK91947,ABM69254,AAC23653,AAB82092,AAC23982,BAF85214,BAG63863,AAY22962,AAH39695,O60674,Q506Q0,Q52R86,Q8IXP2 Hs.656213 JTK10 JAK-2|Janus kinase 2 (a protein tyrosine kinase)|tyrosine-protein kinase JAK2 protein-coding 737593 JAK3 Janus kinase 3 The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq] 1357935,1600254,1625126,1580863,1357939 19913121,20628086,20697856,9637477,9133424,11585385,11994288,10872802,20339477,20372811,20568388,20237298,8493579,20478313,9045636,19470474,19464057,19385051,19282076,19248116,19141860,19139084,19017763,19012493,18755984,18676680,18633131,18559588,18397343,18297515,18250158,17938255,17537734,17456055,17252020,17081797,16932349,16843266,16825495,16790275,16763206,16515549,16344560,16308103,16192633,16153455,15831699,15611059,15592455,15584866,15121872,15067075,15057824,14726805,14615376,14593182,12794134,12777975,12613524,12559972,12477932,12351625,12207328,12200137,12145687,11850821,11668621,11668610,11557047,11349123,11278738,11133764,10982185,10899310,10825200,10733938,10531356,10506573,10037026,9822709,9753072,9553136,9512511,9391116,9354668,9226382,9182906,9168059,9047382,8921370,8662778,8022790,8022486,8022485,7973659,7973658,7659163,7559633,7538655,7535338,7499365,7481768,12605694,11485409,10373548,10395671,10875931,11160325,11909529,14968112,15588985,15996891,19170196,19423540,19531027,19573080,19608866,19625176,19692168,19734221,19773279,19859091,19889552,19923221,20040389,20138049,20190194,20406964,20438785,7481769,7662955,9133417,9520455,20098747,20568250,20800603,20959405,21048031 1357935,1600254,1625126,1357939 3718 NM_000215,NG_007273,AC007201,AF513860,CH471106,U70065,AK296383,AK304392,BC028068,BF512748,BM561964,DA405504,U08340,U09607,U31317,U31601,U57096 NP_000206,AAD22741,AAM44860,EAW84637,EAW84638,EAW84639,EAW84640,AAC50950,BAG59055,BAG65227,AAH28068,AAA17743,AAA19626,AAC50225,AAC50226,AAC50542,P52333,Q6LD09,Q8N1E8,Q9UMU1 Hs.515247 JAK-3|JAK3_HUMAN|JAKL|L-JAK|LJAK Janus kinase 3 (a protein tyrosine kinase, leukocyte)|leukocyte Janus kinase|tyrosine-protein kinase JAK3 protein-coding 1605275 JAKMIP1 Janus kinase and microtubule interacting protein 1 18941173,17804789,17761393,17572408,16344560,15324660,15277531,14702039,12477932,20379614,14718537 152789 NM_001099433,NM_144720,AC092442,AC113615,CH471131,AK056126,AK098536,AK124718,AK294356,AK295339,AK307983,AM412307,AM412308,AM412309,AM412310,AW157571,AY382340,BC026343,BC047075,DA155551 NP_001092903,NP_653321,EAW82401,EAW82402,BAB71098,BAC05325,BAG54078,BAG57621,BAG58310,CAL80778,CAL80779,CAL80780,CAL80781,AAR26235,AAH47075,Q96N16 Hs.479066 FLJ31564|Gababrbp|JAMIP1|MARLIN1 GABA-B receptor-binding protein|Jak and microtubule interacting protein 1|OTTHUMP00000217225|OTTHUMP00000217781|janus kinase and microtubule-interacting protein 1|marlin-1|multiple alpha-helices and RNA-linker protein 1|multiple coiled-coil GABABR1-binding protein protein-coding 1605109 JAKMIP2 Janus kinase and microtubule interacting protein 2 17572408,16189514,15489334,14996095,14718537,12477932,9628581,19845895,20379614,20890944 9832 NM_014790,AC011370,AC011415,AC126775,CH471062,AB011127,AF273057,AK291280,AK299724,BC003189,BC017354,EF512550 NP_055605,EAW61820,EAW61821,EAW61822,EAW61823,BAA25481,AAM44460,BAF83969,BAG61622,AAH03189,AAH17354,ABP62932,Q05DV4,Q96AA8 Hs.184323 JAMIP2|KIAA0555|NECC1 CTCL tumor antigen HD-CL-04|Jak and microtubule interacting protein 2|OTTHUMP00000160147|OTTHUMP00000223882|janus kinase and microtubule-interacting protein 2|neuroendocrine long coiled-coil 1|neuroendocrine long coiled-coil protein 1 protein-coding 1316212 JAKMIP3 Janus kinase and microtubule interacting protein 3 17572408,15277531,15164054,14702039,12477932,16385451 282973 NM_001105521,AL162274,AL512622,CH471066,AK095176,AK097818,AK123426,AK126964,AL137551,AL832756,BC045170 NP_001098991,EAW49141,BAC86766,CAH10388,Q5VZ66 Hs.106254 C10orf14|C10orf39|FLJ37857|FLJ41432|Jamip3|NECC2|bA140A10.5 OTTHUMP00000210418|janus kinase and microtubule-interacting protein 3|neuroendocrine long coiled-coil 2|neuroendocrine long coiled-coil protein 2 protein-coding 1343747 JAM2 junctional adhesion molecule 2 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types and may play a role in lymphocyte homing to secondary lymphoid organs. 1580863 17057644,19734545,10779521,17525755,17822725,16381901,16335952,15489336,15489334,15340161,14519386,12975309,12953056,12810109,12477932,12476045,12070135,12036298,11823489,11590146,11076863,10945976,10830953 58494 AK294769,NM_021219,AP000223,AP000224,AP000225,AP000226,CH471079,AF255910,AK312708,AY016009,AY077698,AY358361,BC017779,BM804795,CR599894,CR605305,CR610497,CR612856,CR618843,CR621227,CR621411 BAG57900,NP_067042,EAX09976,EAX09977,EAX09978,AAF81223,BAG35586,AAG49022,AAL82538,AAQ88727,AAH17779,P57087,CAL37679,CAL37748,CAL38686 Hs.517227 C21orf43|CD322|JAM-B|JAMB|PRO245|VE-JAM|VEJAM JAM-2|JAM-IT/VE-JAM|OTTHUMP00000096102|OTTHUMP00000096103|junctional adhesion molecule B|vascular endothelial junction-associated molecule protein-coding 1346212 JAM3 junctional adhesion molecule 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. [provided by RefSeq] 19308021,19204148,18821692,18048693,17822725,17625065,17612407,17429428,17227766,17116731,16916751,16410001,16303743,16195363,16118203,15879142,15489334,15340161,15194813,14702039,12975309,12953056,12810109,12477932,12208882,12070135,11944976,11823489,11739175,11590146,9373149,8125298,15485832,21109224,15811349,17057644,19143587,19461049,20135068,19913121,20592283,20628086 83700 NM_032801,AP000911,AP001775,CH471065,AF356518,AF448478,AJ344431,AJ416101,AK027435,AK074769,AK075309,AK125071,AK225666,AY358335,BC010690,BC012147,BC057284,BC063031,CR609180,CR612469,CR617412,CR624885,W76344,HI574154,CQ782704,CQ783910 NP_116190,EAW67817,EAW67818,EAW67819,EAW67820,AAK27221,AAM20925,CAC69845,CAC94776,BAC11195,BAC11538,BAG54131,AAQ88701,AAH10690,AAH12147,Q9BX67,CBX47566,CAF85939,CAF86920 Hs.150718 FLJ14529|JAM-C|JAMC JAM-2|JAM-3|junctional adhesion molecule C protein-coding 1354253 JARID2 jumonji, AT rich interactive domain 2 This gene is an ortholog of the mouse jumonji gene, which encodes a nuclear protein essential for mouse embryogenesis, including neural tube formation. Overexpression of mouse jumonji negatively regulates cell proliferation. The jumonji proteins contain a DNA-binding domain, called an AT-rich interaction domain (ARID), and share regions of similarity with human retinoblastoma-binding protein-2 and the human SMCX protein. [provided by RefSeq] 1580863 8894700,19010793,18805276,16967465,15542826,15489334,15057990,14574404,12890668,12477932,10913339,10807864,19010785,19759154,19884986,20075857,20123894 3720 AL021938,AL136162,CH471087,AF401209,AK126552,AK292861,AK299349,AK302624,AK303610,BC046184,BC046246,CR590032,U57592,NM_004973 NP_004964,CAI19873,CAI15719,EAW55357,EAW55358,AAL02168,BAF85550,BAH13011,BAH13765,BAH13996,AAH46184,AAH46246,AAC50822,Q92833,Q96PA1 Hs.269059 JMJ jumonji homolog|jumonji-like protein|jumonji/ARID domain-containing protein 2|protein Jumonji protein-coding 1604718 JAZF1 JAZF zinc finger 1 This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq] 15302918,19602701,19592620,19549807,19542872,19502414,19423541,19366831,19343178,19324937,19318432,19258404,19247373,19225753,19139842,19020324,19020323,18952825,18794092,18772439,18722875,18714373,18694974,18591388,18567820,18372903,18264096,18077430,17667554,17197920,16397222,16344560,15489334,15043312,14702039,12690205,12477932,11371647,8401585,19670153,19720844,19741467,19794065,19833888,19838195,19862325,19866473,19900942,19902474,19933996,19998368,20075150,20161779,20203524,20379614,20406958,20450899,20460480,20490451,20581827,20712903,20717903,20816152,20878950,20879858,20889853,20927120,21068098,21071540,20546612,20690139 221895 NG_011499,AC004007,AC004549,AC004885,AC005017,CH236948,CH471073,AK000711,AK091311,AL832491,AL834234,AY372319,BC042441,BC047229,CR619985,DA864624,NM_175061 ABZ92144,NP_778231,EAL24212,EAW93905,BAG52333,CAH10579,CAD38912,AAQ74874,AAH42441,Q69YN3,Q86VZ6 Hs.368944 DKFZp761K2222|TIP27|ZNF802 OTTHUMP00000202334|OTTHUMP00000202336|TAK1-interacting protein 27|juxtaposed with another zinc finger gene 1|juxtaposed with another zinc finger protein 1|zinc finger protein 802 protein-coding 1344750 JBS Jacobsen syndrome 3719 1351723 JBTS1 Joubert syndrome 1 10577920 50955 1602305 JDP2 Jun dimerization protein 2 12650714,17347654,19553667,20452405,18671972,18396163,17545590,16026868,14627710,12707301,12477932,12225289,12101239,12052888,11602244,11231009,9154808,8889548,18307971 122953 NM_001135047,NM_001135048,BE389064,BU740697,BC068196,AF111167,CH471061,AB077880,AI916777,BC051303,NM_130469,NM_001135049,AC009363 NP_001128519,Q8WYK2,AAC98313,EAW81231,EAW81232,EAW81233,BAB83896,AAH51303,NP_001128520,AAF21148,NP_569736,NP_001128521 Hs.196482 JUNDM2 jun dimerization protein 2|progesterone receptor co-activator protein-coding 1606499 JHDM1D jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) 14702039,12477932,11214970,20084082,18029348 80853 CH471070,AB051505,AK057208,AK131497,BC127007,BX641017,BX649115,NM_030647,AC004849,CH236950 EAW83940,BAB21809,BAD18641,AAI27008,CAE46011,Q6ZMT4,NP_085150,AAS00360,EAL24032 Hs.308710 KDM7A|KIAA1718 histone lysine demethylase JHDM1D|jmjC domain-containing histone demethylation protein 1D|jumonji C domain-containing histone demethylase 1 homolog D|lysine-specific demethylase 7 protein-coding 1320591 JMJD1C jumonji domain containing 1C 1580863 20648472,17353003,7776974,18940312,17549425,17290275,14702039,14533015,12477932,10718198,17353931,16385451,19820697,19936222,20379614,20526338 221037 HI574084,HI574086,NM_004241,AC022022,AL590502,AL607128,AL713895,CH471083,AB037801,AK024991,AK027280,AK056660,AK095584,AK123507,AK126040,AL831917,BC026268,BC037981,BC047331,BC065742,BC067238,BC108649,BC126403,BC143722,BF243713,BX537954,CR607761,CR619190,DR002533,EF068222,NM_032776,L40411 CBX47531,CBX47532,NP_116165,NP_004232,CAI14188,CAI10947,CAI10948,CAI10950,EAW54242,EAW54243,BAA92618,CAD38578,AAH26268,AAI43723,CAD97921,AAC41741,Q15652,ABK64187,AAI56415 Hs.413416 DKFZp761F0118|FLJ14374|KIAA1380|RP11-10C13.2|TRIP8 TR-interacting protein 8|TRIP-8|jumonji domain-containing protein 1C|probable JmjC domain-containing histone demethylation protein 2C|thyroid hormone receptor interactor 8|thyroid receptor interacting protein 8|thyroid receptor-interacting protein 8 protein-coding 1607006 JMJD4 jumonji domain containing 4 14702039,12477932 65094 NM_023007,NM_001161465,AL136378,CH471098,AA594981,AK022579,AK023030,AK026908,BC011928,BC109272,CR593629,CR603747 NP_075383,NP_001154937,CAI23067,CAI23068,EAW69818,EAW69819,BAB14109,BAB14366,Q9H9V9 Hs.555974,Hs.720261 FLJ12517|MGC129896 OTTHUMP00000035837|jmjC domain-containing protein 4|jumonji domain-containing protein 4 protein-coding 1602684 JMJD5 jumonji domain containing 5 This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described. 17909537,16858412,16344560,16189514,14702039,12477932,9373149,8125298,20457893 79831 DA497245,NM_001145348,AC092725,AC106739,AC109449,CH471145,AK023860,AK225066,AK297166,AK298410,AK308499,AK310885,AY345239,BC027911,BQ022832,NM_024773,CR608978 Q8N371,NP_079049,NP_001138820,EAW55759,BAB14706,BAG59661,BAG60638,AAQ23080,AAH27911 Hs.145717 FLJ13798 jmjC domain-containing protein 5|jumonji domain-containing protein 5|lysine-specific demethylase 8 protein-coding 1313400 JMJD6 jumonji domain containing 6 This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20684070,17947579,17534701,19574390,14729065,19492415,18564434,16983801,15622002,15489334,15469976,15453906,15345036,15193161,15072554,14702039,14645848,12898702,12559004,12477932,11877474,10811223,9628581,20679243 23210 AK314541,NM_015167,AC005837,CH471099,AA226560,AA775442,AB011157,AB073711,AK021780,AK294816,NM_001081461,BC016837,BC047003,BC066654,CR594304,CR597139,CR598927,CR600929,CR601337,CR602714,CR609667,CR613854,DB451815,EF527406,EF527407 NP_001074930,NP_055982,EAW89429,EAW89430,EAW89431,EAW89432,EAW89433,EAW89434,BAA25511,BAC16755,BAG51050,BAG57932,AAH47003,AAH66654,ABU68576,ABU68577,Q6NYC1 Hs.514505 KIAA0585|PSR|PTDSR|PTDSR1 bifunctional arginine demethylase and lysyl-hydroxylase JMJD6|histone arginine demethylase JMJD6|jmjC domain-containing protein 6|jumonji domain-containing protein 6|lysyl-hydroxylase JMJD6|peptide-lysine 5-dioxygenase JMJD6|phosphatidylserine receptor protein-coding 2298734 JMJD7 jumonji domain containing 7 This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq] 11181995,16617059,16344560,15809658,15489334,12477932,10358058,10085124,9373149,8889548,8125298,19913121,20628086 100137047 CH471125,NM_001114632,AC020659,AK000550,AK000663,AK000814,AK225503,AK289833,AK290051,BC025290,BC067834,BC110415,BC139899,BU739980,CR614883,DA100207 EAW92520,NP_001108104,BAA91385,BAF82522,BAF82740,AAH25290,AAI39900,P0C870,Q9NWJ5 Hs.198161 FLJ20543|FLJ20656|FLJ20807|FLJ77014|FLJ78330 OTTHUMP00000201603|OTTHUMP00000201608|jmjC domain-containing protein 7|jumonji domain-containing protein 7 protein-coding 2290030 JMJD7-PLA2G4B JMJD7-PLA2G4B readthrough transcript This gene transcribes naturally-occurring mRNAs that are co-transcribed products of the neighboring JMJD7 and PLA2G4B genes. Incompletely processed read-through transcripts from these two loci are abundantly expressed in most tissues, but the function of the predicted protein product has not yet been determined. Alternative splicing of this gene results in different transcript variants, some of which are candidates for nonsense-mediated decay (NMD). [provided by RefSeq] 16617059,16344560,15999343,15862967,15489334,15274049,12477932,11741884,10358058,10085124,9705332,9373149,8889549,8889548,8125298,20967262,9745929,9377118,19913121,20628086 8681 NR_015346,NM_005090,AC020659,CH471125,AA064721,BC128426,BI768993,BU688449,DA080158,DA096882,DA121536,NM_001198588 NP_005081,EAW92521,AAI72355,NP_001185517 Hs.198161 HsT16992|PLA2G4B|cPLA2-beta JMJD7-PLA2G4B protein|JMJD7-PLA2G4B read-through|JMJD7-PLA2G4B readthrough transcript|OTTHUMP00000201605|OTTHUMP00000210673|jumonji domain containing 7-phospholipase A2, group IVB (cytosolic) read-through|phospholipase A2, group IVB (cytosolic) protein-coding 1601801 JMJD8 jumonji domain containing 8 12477932,11157797 339123 NM_001005920,AE006464,CH471112,AF370420,AI022970,BC073785,BC094850,BC137100,BC137101,BI463867,CR592573,CR607606,CR608736,CR613585,CR621444,CR624596,CR625506,DQ074695 NP_001005920,AAK61243,EAW85754,EAW85755,AAQ15256,AAH73785,AAH94850,AAI37101,AAI37102,AAY82251,Q96S16 Hs.533771 C16orf20|PP14397 jmjC domain-containing protein 8|jumonji domain-containing protein 8 protein-coding 1345689 JMS Juberg-Marsidi syndrome 3721 1603907 JMY junction mediating and regulatory protein, p53 cofactor 8889548,16344560,15146197,14702039,12477932,15706352,18398821,10518217,19287377,17170761,19897726 133746 NM_152405,AC016559,AC020898,CH471084,AK092475,AK095189,AL708168,BC130624,BX648048,BX648731,CN372786,DB313348,DW425980,BM668734,DA435238 NP_689618,EAW95834,BAC04495,AAI30625,Q8N9B5 Hs.482605 FLJ37870|MGC163496|WHDC1L3 WAS protein homology region 2 domain containing 1-like 3|junction-mediating and -regulatory protein|junction-mediating and regulatory protein protein-coding 1604837 JOSD1 Josephin domain containing 1 18029348,18579725,15489334,15461802,12486728,12477932,10591208,7584044,19615732 9929 NM_014876,AL021707,CH471095,AK291827,BC015026,CR456473,CR456923,CR596979,D31884 NP_055691,CAB42863,CAQ07905,CAQ07906,CAQ07907,CAQ07908,EAW60259,EAW60260,BAF84516,AAH15026,CAG30359,CAG33204,BAA06682,Q15040,Q6IB81,CAK54454,CAK54753 Hs.3094 KIAA0063|dJ508I15.2 Josephin-1|OTTHUMP00000198988|josephin domain-containing 1 protein-coding 1606979 JOSD2 Josephin domain containing 2 15489334,12486728,12477932,19615732 126119 NM_138334,AC008743,CH471135,AF247787,AK131052,BC051380,BC062416 NP_612207,EAW71874,EAW71875,EAW71876,EAW71877,AAL95692,AAH51380,AAH62416,Q7Z7N5,Q8TAC2 Hs.467151 FLJ29018|SBBI54 Josephin-2|josephin domain-containing protein 2 protein-coding 1350132 JPD juvenile periodontitis 3722 1318763 JPH1 junctophilin 1 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq] 1580863 19095005,10891348,17081983,16421571,15146197,12777839,12477932,12135771,10949023,20379614,20308539 56704 NM_020647,AB042635,AC087792,AF110324,CH471068,BC017980,BC049372,BC098299,BC098314,BC099736,BC113856,BC114464,BC139832,BC140875,BC140876,BX537756,CN272069,CR627477 NP_065698,BAB11986,EAW87026,EAW87027,EAW87028,EAW87029,EAW87030,EAW87031,AAH49372,AAH98299,AAI13857,AAI14465,AAI39833,AAI40876,AAI40877,CAD97825,CAH10677,Q4KMX3,Q6AHW6,Q7Z682,Q86VR1,Q9HDC5 Hs.657367 DKFZp762L0313|JP-1|JP1 junctophilin type 1|junctophilin type1|junctophilin-1|mitsugumin72 protein-coding 1313081 JPH2 junctophilin 2 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq] 1580652,1580863 19095005,17509612,17476457,17081983,15541368,14702039,12477932,11780052,10949023,10891348,15782160,20095964,20379614 1580652 57158 NM_020433,NM_175913,AL034419,AL035447,CH471077,AK098288,AK098303,AK304863,AL132999,AW014086,BC029957,BC043206 NP_065166,NP_787109,CAI42199,CAC18785,CAI19380,EAW75940,EAW75941,EAW75942,EAW75943,BAG65601,CAB61347,AAH43206,Q86VZ3,Q9BR39,AAI72751 Hs.441737 FLJ40969|JP-2|JP2 junctophilin type 2|junctophilin-2 protein-coding 1318170 JPH3 junctophilin 3 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. [provided by RefSeq] 1580863 18816802,18651325,17708569,16858508,15876586,15527767,15489334,14702039,12805114,12477932,11914418,11694876,10949023,9225980,11145944,17353931,19095005,10891348,19724895,19851296,20198315,20379614 57338 NM_020655,NG_009797,AB042640,AC010536,AC092720,AF429315,CH471114,AB042636,AK055486,AK126663,AK295518,AK297215,BC008690,BC036533,BI553267,CR613927 NP_065706,BAB11987,AAL40941,EAW95386,EAW95387,BAB11983,BAG51525,BAG58433,BAG59698,AAH08690,AAH36533,Q8WXH2,Q96HD8,ABM84495,ABM85346 Hs.725123 CAGL237|FLJ44707|HDL2|JP-3|JP3|TNRC22 junctophilin type 3|junctophilin-3|trinucleotide repeat containing 22|trinucleotide repeat-containing gene 22 protein protein-coding 1315305 JPH4 junctophilin 4 This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 19095005,16344560,15489334,14702039,14559359,12477932,11347906 84502 NM_032452,NM_001146028,AL135999,CH471078,AB058734,AK055345,AK091572,AK290511,AK304514,AL834411,AY344068,BC055429,BC109228,CR611477,CR615538,DA108605 NP_115828,NP_001139500,EAW66135,EAW66139,BAB47460,BAB70905,BAF83200,BAH14203,CAD39073,AAS47836,AAH55429,Q69F39,Q96JJ6 Hs.597841 FLJ34253|JP4|JPHL1|KIAA1831 JP-4|OTTHUMP00000027957|junctophilin like 1|junctophilin-4|junctophilin-like 1 protein protein-coding 1314867 JRK jerky homolog (mouse) This gene is the human homolog of the mouse jerky gene. The encoded protein has similarity to several nuclear regulatory proteins, including centromere protein B, suggesting that it might function as a DNA-binding protein. Insertional inactivation of this gene in transgenic mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene, making this gene a strong candidate for CAE. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16344560,14702039,12477932,11463517,9675132,20379614 8629 NM_001077527,NG_012215,AC108002,AC145123,AF072469,CH471162,AB209002,AF072467,AF072468,AK024145,AK024975,AK025687,AK127631,NM_003724,BC024297,BC030566,BC036794,BC043351,BC071862,BX640755,DB083591 NP_003715,NP_001070995,AAC32354,EAW82315,EAW82316,EAW82317,BAD92239,AAC32352,AAC32353,BAC87064,AAH43351,CAE45862,O75564,O75566,Q59GV7,Q6N011,Q6ZS90,Q86XJ5 Hs.535903,Hs.683465 DKFZp686C24207|FLJ45729|JH8 jerky protein homolog protein-coding 1319078 JRKL jerky homolog-like (mouse) The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. [provided by RefSeq] 1580863 9240447,16344560,12477932,8889548 8690 NM_003772,AC018702,AP003781,CH471065,AF004715,AK290579,AK314216,BC109202,CA503357,DB030091,DB084056 NP_003763,EAW66986,AAB65833,BAF83268,BAG36890,AAI09203,Q9Y4A0 Hs.722414,Hs.105940 HHMJG|MGC129608 OTTHUMP00000207000|erky homolog-like|human homolog of mouse jerky gene protein|jerky protein homolog-like protein-coding 1603184 JSRP1 junctional sarcoplasmic reticulum protein 1 The sarcoplasmic reticulum (SR) is an intracellular membrane compartment that controls intracellular calcium concentration and therefore plays a role in excitation-contraction coupling. In mouse skeletal muscle, Jp45 interacts with key proteins involved in excitation-contraction coupling at the SR (Anderson et al., 2003 [PubMed 12871958]).[supplied by OMIM] 16423849,14702039,12871958,12477932,16344560,20442750 126306 NM_144616,AC005263,AC138127,CH471139,AK056978,BC021201,AW137573,DA897543,DA898560 NP_653217,EAW69396,BAB71330,AAH21201,Q96MG2,ACE87095,ACE86420 Hs.712901 FLJ32416|JP-45 2310032K21Rik|homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45|junctional sarcoplasmic reticulum protein 1|junctional-face membrane protein of 45 kDa homolog|skeletal muscle sarcoplasmic reticulum protein JP-45 protein-coding 736325 JTB jumping translocation breakpoint 69865,1580863 8619474,9110174,10321732,18029348,15489334,12586295,12477932,11042152,10762645,12897160,19487072 69865 10899 NM_006694,AB016492,AB016493,AL358472,CH471121,AB016488,AF115850,AF131797,AF151056,AK312106,BC000499,BC000996,BC001363,BC001667,BC004239,BC019277,BM907938,BT007285,BU527541,CR456985,CR595312,CR599832,CR603308,CR608719,CR613105,CR618181,CR620505,CR625103 NP_006685,BAA33735,BAA33736,CAI14028,CAI14029,CAI14030,EAW53242,BAA33731,AAD09822,AAD20045,AAF36142,BAG35042,AAH00499,AAH00996,AAH01363,AAH01667,AAH04239,AAH19277,AAP35949,CAG33266,O76095,Q6IB19,Q9P0Q4 Hs.6396 HJTB|HSPC222|PAR|hJT jumping translocation breakpoint protein|prostate androgen-regulated protein|protein JTB protein-coding 1351606 JTK5A JTK5A protein tyrosine kinase 3723 1344537 JTK5B JTK5B protein tyrosine kinase 3724 1343876 JUB jub, ajuba homolog (Xenopus laevis) 1580863 18805794,18710370,16713569,16413547,15870274,15870270,15728191,14702039,13678582,12477932,12417594,11860269,11029037,10330178,15778465,17621269,16712791,20133701,20508983 84962 NM_032876,NM_198086,AL132780,CH471078,AK025567,AK096128,AY169959,BC007580,BC016733,BC034968,BU543883,CB105505 NP_116265,NP_932352,EAW66204,EAW66205,BAG53217,AAO37641,AAH07580,AAH34968,Q96IF1,ABM84439,ABM87485 Hs.655832 Ajuba|MGC15563 protein ajuba protein-coding 734356 JUN jun oncogene This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq] 1549443,2290482,2290481,2290480,2293758,2290478,2290479,2290484,1580863,4889994,4890001,2290593,4890002,4889999 9732876,9443941,11804590,2825349,10973489,16007074,9030721,10918580,19435822,19433309,19334540,19306295,19281909,19258923,19249008,19238531,19219074,19215067,19206162,19193763,19176525,19166930,19165171,19164581,19131506,19123467,19035162,19028685,19022561,19020743,19018257,19015316,18992165,18957410,18952102,18950845,18940179,18936204,18931081,18923650,18845538,18844221,18838675,18805449,18775869,18757369,18725194,18708361,18692129,18664273,18653705,18653452,18650425,18644981,18621151,18619508,18617512,18600430,18597608,18572021,18570890,18543249,18515365,18497564,18494816,18487146,18485515,18467434,18448277,18443043,18443042,18435914,18414033,18410487,18384814,18352974,18351441,18347071,18322962,18316603,18316037,18281687,18262488,18253836,18239671,18234454,18192274,18180316,18180292,18174157,18172215,18171671,18073204,18065414,18062835,18032824,17978573,17968316,17952113,17940019,17920329,17914574,17845581,17804415,17761353,17703412,17702894,17681951,17672916,17658605,17652081,17651785,17639289,17637753,17636030,17634427,17588603,17510314,17506864,17495958,17466952,17403042,17401435,17390236,17317669,17314269,17283046,17283040,17237407,17237388,17235455,17215518,17130130,17121851,17101801,17097050,17088247,17085440,17074809,17009014,16980310,16951171,16928756,16911523,16905771,16895791,16887814,16844113,16786139,16710414,16702224,16690925,16676006,16620772,16586042,16582099,16571680,16569638,16410250,16380075,16361535,16343055,16341687,16328781,16303762,16289409,16285957,16253992,16243842,16236267,16223572,16199533,16158054,16140218,16123044,16055710,16049073,16023596,15994313,15991283,15944151,15941782,15936718,15923644,15923621,15922298,15897893,15894171,15870692,15863510,15840658,15746191,15718494,15708845,15702969,15701643,15654976,15642950,15586248,15579469,15550679,15544846,15530430,15528994,15514030,11903046,11891317,11891228,11877416,11867732,11823437,11801649,11739718,11708771,11704680,11689449,11641401,11551904,11477071,11448159,11432833,11397794,11371641,11331585,11316804,11278891,11278640,11278277,11274169,11260070,11254713,11053448,11022789,10878360,10799874,10644332,10637231,10523647,10509564,10506225,10497212,10490649,10488148,10478848,10428834,10421840,10357819,10330159,10220381,10196196,10188588,10026157,9872330,9786917,9685505,9671405,9670954,9642216,9628874,9621077,9566900,9545246,9510247,9488446,9468519,15507668,15489334,15480426,15469925,15385474,15383523,15378002,15351693,15333603,15314185,15314183,15302935,15302867,15271374,15262961,15249231,15226448,15191540,15158360,15087451,15034932,15001576,14739464,14667575,14654548,14652666,14645224,14638681,14532268,14530285,14522952,14511403,14500675,12963995,12963547,12954631,12949493,12909593,12875982,12853483,12815619,12805554,12799614,12798298,12700665,12692226,12682910,12618758,12615916,12600818,12592382,12554755,12547826,12485413,12477932,12446585,12441106,12437352,12186939,12183893,12167088,12165517,12145210,12119282,12091339,12087103,12080089,12077347,12052862,12034730,11983170,11956220,11948398,11914583,11912197,11909859,9160889,9681824,14633987,12052834,11479302,9774977,9207092,8621542,8586671,12419228,10777532,10847592,10567404,11331419,8945519,9837938,10903323,11287617,14506227,16023595,16007099,15806162,15706351,15696159,9155018,9020136,8816797,8816798,9374537,15688015,15674337,15240010,15175153,20508969,20607803,20837772,18304423,19105933,20939893,20222112,20482821,9445037,9405416,9346889,9334186,9235954,9223324,9211894,9154808,9129988,8974016,8837781,8798722,8763994,8733011,8663478,8663380,8662824,8654373,8649793,8628277,8617242,8570175,8557686,8464713,8440710,8397339,8387155,8380166,8302594,8137421,8108109,8087846,7848298,7823959,7816143,7738014,7690421,7666555,7662174,3194415,2320002,2138276,1922387,1827203,1651323,1631061,1516134,1448082,1310896,12775419,12089333,10581001,10027715,16179804,16001969,7642615,8621941,7957556,12419805,10388555,8480425,15258149,18716056,18671972,8027667,8622660,20543003,20225236,20306472,20353996,20430872,19913121,20051654,20331627,20505831,20507572,20510020,20531301,20590529,20628086,20628624,20683948,20688351,10346818,10567391,11431474,11738026,12676957,14645924,14701856,15334056,15626733,15867431,16291755,16511568,16533805,16901904,16983342,17110928,17592138,18165900,19231233,19357699,19384981,19495976,19499154,19513521,19528235,19531482,19578717,19591174,19595408,19616043,19653276,19654329,19714312,19723051,19734233,19734545,19758340,19758438,19782465,19787273,19794957,19795388,19806201,19811296,19837979,19841138,19859790,19860880,19874574,19878434,19885545,19898747,19910471,19921846,19937141,19937979,19939924,19944700,19959471,19965873,20044606,20053993,20074357,20093361,20102411,20133937,20185758,20193273,20198339,20331972,20331980,20333648,20353950,20371606,20395206,20432452,20483790,20503287,2833704,7623830,8224842,9973222,16880509,16980615,17056544,17082780,18823944,20619956,20952681,20170659,20448330,20698984,18646516,20557936,19701800,20227498,20519498,20554528,16569633,16714286,16740711,17182846,20936779,15276183,16478997,16611996,20203690,20511396 1549443,2290482,2290481,2290480,2293758,2290478,2290479,2290484,4889994,4890001,2290593,4890002,4889999 3725 NM_002228,AL136985,AY217548,CH471059,J04111,BC002646,BC006175,BC009874,BC068522,BG831943,BI793062,BT019759,BU782554,CD370800,CR541724,CR541752,CS542415 NP_002219,CAC10201,AAO22993,EAX06628,AAA59197,AAH06175,AAH09874,AAH68522,AAV38564,CAG46525,CAG46552,P05412,Q6FHK0,Q6FHM7,ABM87431,CAM91157 Hs.696684 AP-1|AP1|c-Jun Jun activation domain binding protein|activator protein 1|enhancer-binding protein AP1|jun oncogene|p39|proto-oncogene c-Jun|transcription factor AP-1|v-jun avian sarcoma virus 17 oncogene homolog|v-jun sarcoma virus 17 oncogene homolog protein-coding 737195 JUNB jun B proto-oncogene 2293758,2293780,1580863 2513129,19151755,18977241,18843287,18628455,18424718,18391017,17965727,17690253,17681951,17601350,17495958,17306025,17204476,17081983,16880520,16552541,16189514,15507668,15489334,15302935,15231748,14499865,12907627,12907453,12592382,12522006,12506033,12477932,12393503,12165517,12145210,12080089,11726656,11477071,11036094,10903323,10777209,10764760,10220381,9889198,9872330,9405416,9373149,9154808,8917518,8649827,8570175,8530030,8432525,8125298,2112242,1899335,12371906,1633872,1406655,8954125,8945519,11053448,15240010,15867431,18029348,19409613,19666408,19923172,20006998,20056077,20132737,9128241 2293758,2293780 3726 NM_002229,AC018761,AY751746,CH471106,M29039,U20734,AK222532,AK313737,BC004250,BC009465,BC009466,BT019760,CR590747,CR593398,CR594023,CR594713,CR597506,CR598191,CR600570,CR601699,CR602325,CR603499,CR604051,CR606286,CR606700,CR607954,CR610072,CR611695,CR611906,CR612594,CR612640,CR612733,CR613405,CR614703,CR614974,CR614983,CR616502,CR617154,CR617771,CR619014,CR619026,CR620377,CR621592,CR623369,CR624830,CR625280,CR626547,X51345,CR624580 NP_002220,AAU43800,EAW84307,AAA59198,AAA74915,BAD96252,BAG36478,AAH04250,AAH09465,AAH09466,AAV38565,CAA35738,P17275,Q53HP8,Q5U079,ABM83947,ABM87265 Hs.25292 AP-1 activator protein 1|transcription factor jun-B protein-coding 735346 JUND jun D proto-oncogene The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. It has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternate translation initiation site usage results in the production of different isoforms. [provided by RefSeq] 2293758,1580863 1903194,19470832,19211927,19166930,18952102,18562690,18454173,18443593,18386285,18321953,18095154,18078517,18071306,17681951,17651017,17495958,17205062,17204476,17081983,16423552,16264271,16129800,16007120,15563473,15507668,15302935,15044019,14559791,12727841,12615916,12477932,12226747,12193410,12165517,12105216,12082101,12080089,12054733,12052862,12052834,12032852,11903046,11221882,10942775,10934195,10713367,10523647,10220381,9989505,9872330,9739985,9373149,8945519,8889548,8837781,8570175,8432525,8152431,8125298,7848298,2112242,1899335,18671972,9154808,15706351,10500243,15688015,11431474,11477071,14676207,15867431,17577209 2293758 3727 NM_005354,AC008397,CH471106,EF044249,AK223630,CA502969,X51346,X56681 NP_005345,EAW84684,ABJ53425,BAD97350,CAA35739,CAA40010,P17535,AAI69272,AAI69273,AAI69274 Hs.2780 AP-1 JunD-FL isoform|activator protein 1|transcription factor jun-D protein-coding 732396 JUP junction plakoglobin This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq] 2291873,2291872,2291883,2291890,2291864,2291880,2291866,2291876,2291882,2301235,2301748,2301746,2301747,2301745,2289818,2291881,1600286,1580863 1639850,8663237,19348003,18937352,18837082,18568994,18469796,18245958,17998942,17924338,17081983,17002498,16537559,16306047,16189514,15951569,15942628,15916880,15781623,15701841,15231748,14739224,14661058,14661054,14517306,12939402,12847106,12808048,12604612,12477932,12386812,12370829,12068170,12003790,11984022,11790773,11711551,11710948,11707392,11348595,11274246,11136974,11016852,10959047,10902626,10803460,10801826,10769211,10769205,10488109,9739078,9606214,9443898,9348293,9298899,9245795,9168809,9139698,9110993,8749329,8743961,8576101,8314871,8207061,7971964,7890674,7876318,7738346,7702605,7650039,7604000,2726765,1889810,9762469,9434630,14625392,9535896,8074697,7542250,7651399,16169070,12639940,12707304,10910767,17353931,11712088,12426320,20529814,20529828,10403777,10460003,10825188,10868478,11226248,19060904,19584275,19615732,20031617,20101217,20130592,20400443,7806582,7983064,20525856,20936779,20737155 2291873,2291872,2291883,2291890,2291864,2291880,2291866,2291876,2291882,2301235,2301748,2301746,2301747,2301745,2289818,2291881,1600286 3728 NM_002230,NM_021991,NG_009090,AC109319,AF233882,AF306723,AJ249711,CH471152,D50808,AK226051,AY243535,BC000441,BC011865,CR608656,CR612481,M23410,Z68228,CS673474,CS690857,FB665610,GM706822 NP_002221,NP_068831,AAG16727,CAC04246,EAW60762,EAW60763,EAW60764,EAW60765,BAA09435,AAO85780,AAH00441,AAH11865,AAA64895,CAA92522,P14923,Q7KZ86,ABM82346,ABM85520,CAP07504,CAP11472,CAR97086,CAT82323 Hs.514174 ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB catenin (cadherin-associated protein), gamma (80kD)|catenin (cadherin-associated protein), gamma 80kDa|catenin gamma|desmoplakin III|desmoplakin-3|gamma-catenin|junction plakoglobin protein-coding 1342755 K12T K12 temperature sensitivity complementing 455493 3729 1350579 KAAG1 kidney associated antigen 1 1580863 10601354,15489334,14574404,12477932 353219 NM_181337,AF181720,AL359713,AF181722,BC119739,BC119740 NP_851854,AAF23611,CAI17106,AAF23613,Q9UBP8,AAI52887 Hs.697888 MGC78738|RU2AS RU2 antisense gene protein|kidney-associated antigen 1 protein-coding 1350490 KAL1 Kallmann syndrome 1 sequence Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq] 1580863 20362962,1922361,8842728,1913827,8832397,18723471,18682503,18463157,18160472,17603054,17223984,17213338,17054399,16876430,15949815,15636431,15605412,15548653,15471890,15324302,15146197,15004876,15001591,12627230,12050219,11463336,11297579,10591208,9713559,9589672,8989261,8504298,7590336,1977309,1303284,1302031,12477932,19696444,19734936,19844165,20219326,20734064 3730 NM_000216,NG_007088,AC005184,AC006062,AC096511,CH471074,X82034,AI582702,BC137426,BC137427,CN417843,M97252,S60085,S60088,X60299 NP_000207,EAW98759,CAA57554,AAI37427,AAI37428,AAA59202,AAB20108,CAA42841,P23352 Hs.521869 ADMLX|HHA|KAL|KALIG-1|KMS Kallmann syndrome interval gene 1|Kallmann syndrome-1 sequence (anosmin-1)|adhesion molecule-like X-linked|anosmin-1|kallmann syndrome protein protein-coding 1350651 KAL2 Kallmann syndrome 2 (autosomal dominant) 3731 1343715 KAL3 Kallmann syndrome 3 (autosomal dominant) 3733 1352931 KALP Kallmann syndrome sequence pseudogene 12815422,1303285 3734 NG_001153,AC006370,X68743 ADMLY|KAL-Y pseudo 1601887 KALRN kalirin, RhoGEF kinase Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 9285789,10023074,18839057,18199770,17851188,17640372,17357071,16964243,16713569,16620772,16344560,15950621,15489334,14742910,14702039,12546821,12477932,11891045,11181995,10777487,10737800,9139723,8889548,14623284,20730383,11756498,12376548,12787561,18936096,19706030,19807924,20080650,20107840,20379614,21041834 8997 CH471052,AB011422,AI024603,AK022394,AK123068,AK125979,AK126954,AK128223,AK131379,AK296657,AK311154,AK311581,AK314126,AL137629,BC026865,BC037924,BC058015,BM930007,BQ345377,CB045666,CR605792,CR608638,DA756158,DB450617,U94190,NM_001024660,NM_003947,NM_007064,NR_028136,NG_012742,AC022336,AC069233,AC080008,AC112129,AC117401 EAW79410,EAW79414,EAW79415,EAW79416,EAW79417,EAW79418,EAW79419,EAW79420,EAW79421,EAW79422,EAW79423,BAA76314,BAC86373,BAD18530,BAG59254,CAB70850,AAH26865,AAH58015,AAC15791,O60229,AAI66705,NP_001019831,NP_003938,NP_008995 Hs.8004 ARHGEF24|DUET|DUO|FLJ12332|FLJ16443|FLJ18196|FLJ18623|HAPIP|TRAD OTTHUMP00000165774|OTTHUMP00000215857|huntingtin-associated protein interacting protein (duo)|kalirin|serine/threonine kinase with Dbl- and pleckstrin homology domains|serine/threonine-protein kinase with Dbl- and pleckstrin homology domain protein-coding 1317065 KANK1 KN motif and ankyrin repeat domains 1 This gene encodes a protein containing four ankyrin repeat domains in its C-terminus. The suggested role for this protein is in tumorigenesis of renal cell carcinoma. Two alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 2315654 19171758,19559006,19834503,20164854,20379614,19506219,18458160,18029348,17996375,16968744,15823577,15596059,15489334,15231748,15164053,12477932,12133830,8724849 2315654 23189 NG_016331,NM_015158,NM_153186,AL136979,AL161725,AL392089,CH471071,AB205106,AB205107,AB205108,AB205109,AB205110,AK025428,AK025636,AK026421,AK290028,AK292989,AL039663,AL832454,AL833015,AL833161,BC020040,BC037495,BC038116,BX648931,CR594759,D79994 NP_055973,NP_694856,CAH70387,CAH70388,CAH70389,CAH70390,CAM13084,EAW58821,EAW58822,BAD97395,BAD97396,BAD97397,BAD97398,BAD97399,BAF82717,BAF85678,CAD90003,CAH56292,AAH20040,AAH37495,AAH38116,BAA11489,Q14678,Q53U93,Q5W0W1,Q5W0W3,Q658S3,Q6PIB3,Q86TE2,Q8WUM7 Hs.306764 ANKRD15|DKFZp451G231|KANK|KIAA0172|MGC43128 KN motif and ankyrin repeat domain-containing protein 1|OTTHUMP00000020957|OTTHUMP00000020959|ankyrin repeat domain 15|ankyrin repeat domain-containing protein 15|kidney ankyrin repeat-containing protein protein-coding 1352192 KANK2 KN motif and ankyrin repeat domains 2 737633 17996375,17476305,17081983,16344560,15489334,15146197,14702039,12477932,12107410,10819331,9373149,8125298 737633 25959 NM_001136191,AC009000,AC011485,CH471106,AB040951,AB284125,AK000011,AK002094,AK023332,AK225038,AL117489,AL701379,NM_015493,BC030030,BC032745,BC049201,BC082762,BC098105,BC098286,BC098312,BC105989,BQ631109,CA394858,CN306249,CR457388,CR595669,DA991654,AY639929,BC019078,BQ007409,DA889034,DB282630 NP_056308,EAW84175,EAW84176,EAW84177,EAW84178,BAA96042,BAG06864,BAA90882,BAA92081,BAB14531,CAB55958,AAH82762,AAH98105,AAH98286,AAH98312,AAI05990,CAG33669,Q63ZY3,Q9NXX5,Q9UFS0,AAT57879,NP_001129663 Hs.284208,Hs.723365,Hs.726146 ANKRD25|DKFZp434N161|FLJ20004|KIAA1518|MGC119707|MXRA3|SIP KN motif and ankyrin repeat domain-containing protein 2|SRC-1 interacting protein|SRC-1-interacting protein|SRC1-interacting protein|ankyrin repeat domain 25|ankyrin repeat domain-containing protein 25|kidney ankyrin repeat-containing protein 2|matrix-remodeling-associated protein 3|matrix-remodelling associated 3 protein-coding 1602171 KANK3 KN motif and ankyrin repeat domains 3 17996375,15489334,14702039,12477932,9110174,8619474 256949 NM_198471,AC010323,CH471139,AB284126,AK128815,AY203940,BC035849,BC066124,BC066775 NP_940873,EAW68932,BAG06865,BAC87620,AAP34463,AAH35849,AAH66124,AAH66775,Q6NY19,Q6XYD0 Hs.727658 ANKRD47|FLJ46061 KN motif and ankyrin repeat domain-containing protein 3|ankyrin repeat domain 47|ankyrin repeat domain-containing protein 47|kidney ankyrin repeat-containing protein 3 protein-coding 1603552 KANK4 KN motif and ankyrin repeat domains 4 17996375,16710414,15489334,14702039,12477932 163782 NM_181712,AL139343,AL162739,CH471059,AB284127,AK091941,AK096259,AK127461,AL832644,BC033147,BC041418,BC060866 NP_859063,CAI19091,CAI19092,CAI19093,CAI19094,CAI19293,CAI19295,CAI19297,CAI19298,EAX06587,EAX06588,EAX06589,BAG06866,BAC03774,BAC04741,BAG54508,CAD89966,AAH41418,AAH60866,Q5T7N3,Q8N8S2 Hs.283398 ANKRD38|FLJ10884|KIAA0172|RP5-1155K23.5|dJ1078M7.1 KN motif and ankyrin repeat domain-containing protein 4|OTTHUMP00000010528|ankyrin repeat domain 38|ankyrin repeat domain-containing protein 38|kidney ankyrin repeat-containing protein 4 protein-coding 1345099 KARS lysyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10952987,9278442,18272479,17724017,17560997,16702215,16341674,16169070,15489334,15220430,12869526,12819782,12756246,12729910,12477932,11829477,11333884,9878398,9525626,8812440,7584044,1651330,15183344,15078180,15888436,16120388,15142377,16189514,15479637,20920668,11714285,16055448,18715867,19844255,20056178,8052601,8078941,8188258,8449960,20699648,20877624 3735 CR601961,CR604139,CR608423,CR611117,CR617122,CR622561,D31890,D32053,NM_005548,NM_001130089,AC025287,CH471114,AA503390,AF285758,AK126584,AK309168,AK315687,BC004132,BC013246,BM781594,CR593300,NG_028025 BAA06688,BAA22084,Q15046,Q6ZTI3,ABM83227,ABM86426,NP_005539,NP_001123561,EAW95619,EAW95620,EAW95621,EAW95622,EAW95623,EAW95624,AAG30114,BAC86604,AAH04132 Hs.3100 CMTRIB|KARS2|KIAA0070|KRS lysRS|lysine tRNA ligase|lysine--tRNA ligase|lysyl-tRNA synthetase protein-coding 4889280 KARSP1 lysyl-tRNA synthetase pseudogene 1 100419558 AL442203,NG_024918 pseudo 4889279 KARSP2 lysyl-tRNA synthetase pseudogene 2 100419560 AL137002,NG_024951 pseudo 4889169 KARSP3 lysyl-tRNA synthetase pseudogene 3 100132079 AADB02017599,AC040162 pseudo 1316319 KAT2A K(lysine) acetyltransferase 2A 1580863 15115762,16494529,17643375,17664281,19491097,19615732,19683498,20226045,10373431,11564863,12887892,8552087,18206972,19343071,19339690,19124466,18936164,18842595,18838386,18418385,18250157,17967894,17301242,16260778,15715965,15592455,14767476,14657027,12660246,12477932,12391296,12374802,12154097,11956210,11931763,11438666,11406595,11384967,11090279,10747963,10611234,9742083,9722949,9611240,9488450,9073520,8972232,8684459,7670491,10022868,11839798,20937768,16510874 2648 NM_021078,AC105024,CH471152,U57316,AF029777,BC032743,BC039907,BC105977,CR595219,DB497139 NP_066564,EAW60801,EAW60802,EAW60803,AAC50641,AAC39769,AAH32743,AAH39907,AAI05978,Q92830 Hs.463045 GCN5|GCN5L2|MGC102791|PCAF-b|hGCN5 GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 2|General control of amino acid synthesis, yeast, homolog-like 2|STAF97|general control of amino acid synthesis protein 5-like 2|histone acetyltransferase GCN5|histone acetyltransferase KAT2A|hsGCN5|lysine acetyltransferase 2A protein-coding 1314209 KAT2B K(lysine) acetyltransferase 2B CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq] 1580863 11509179,12815053,11486036,15992539,15350211,9223281,15044952,20589832,20663886,20213728,12887892,12435739,8684459,10365964,18669648,11250901,10891508,19351588,19188449,19176998,19158279,19084499,19056724,19015268,18957410,18950845,18838386,18834332,18782771,18710935,18697823,18663001,18660489,18599479,18574470,18497079,18443043,18400184,18250157,18247445,17982102,17908689,17884818,17882273,17611664,17468105,17317667,17293853,17226766,16904069,16878158,16829519,16696975,16630892,16543236,16415179,16332960,16096645,16060659,16055439,16050810,15834423,15647279,15616580,15611041,15572685,15489334,15482860,15286281,15273251,15153330,15123636,14980312,14769800,14767476,14752096,14747462,14661947,14657027,14645221,14614455,14581481,14500836,12937166,12917345,12888487,12813456,12601814,12501250,12486002,12477932,12419806,12391158,12374802,12154097,12101239,12082103,12068014,12032084,12015309,11994312,11956210,11937047,11931765,11748222,11741939,11689696,11581372,11568182,11564863,11547919,11509661,11463815,11404076,11304541,11118214,11058129,11046145,10944526,10852958,10811635,10779504,10777601,10777539,10766811,10753971,10747963,10619020,10545121,10373431,10318892,10207070,10025406,10022868,9892017,9891054,9880483,9824164,9744860,9742083,9733796,9722949,9674425,9659901,9445475,9346901,9296499,9267036,8945521,1602151,17168834,16838299,16146763,16046164,16035254,15719065,15183343,16135803,16362936,15171254,17977830,18987336,11163245,9710619,11864601,12660246,21062767,20663877,16537920,16678111,17707232,18586263,20530585,16285943,16613856,17141982,17158926,19276081,15509593,15604093,16917507,17643375,19303849,19525977,19589782,19950226,19996091,20363750,20379614,9687573 8850 NM_003884,AC099057,CH471055,CS330046,AL832173,BC060823,BC070075,CR592587,U57317 NP_003875,EAW64305,EAW64306,CAL00151,AAH60823,AAH70075,AAC50890,Q92831 Hs.533055 CAF|P|P/CAF|PCAF CREBBP-associated factor|histone acetylase PCAF|histone acetyltransferase KAT2B|histone acetyltransferase PCAF|lysine acetyltransferase 2B|p300/CBP-associated factor protein-coding 732354 KAT5 K(lysine) acetyltransferase 5 The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1580863,2316155 15572661,15383276,16169070,17110330,18485870,10966108,8607265,14966270,19308289,19169279,19150978,19048121,18985155,18625847,18499675,18458078,18414493,18397884,18285460,18264029,18263878,18239623,18096664,17996965,17980166,17967892,17851107,17728759,17709392,17636029,17551969,17368826,17189186,17126496,16705183,16698308,16603769,16601686,16455055,16341205,16189514,16141325,16001085,15985650,15829968,15647280,15572685,15502158,15489334,15310756,15196461,15121871,15042092,15017382,12963728,12888553,12801643,12776177,12737628,12551922,12477932,12468530,12464179,12154097,12150997,12036595,12032152,11994312,11927554,11441186,11416127,11275565,11262386,11111051,10720489,10486269,10393559,10364196,10362352,10096020,9388189,9373149,8125298,18451177,11509179,11839798,16844118,20507282,20796290,20542002,15474031,16260778,16387653,17360565,17418098,18029348,19176879,19783983,19800870,19819149,19846935,19895790,19909775,19938016,20100829,20159953,20351180,20383146 2316155 10524 AK313297,BC000166,BC013211,BC064912,BC093032,BC117167,BC143290,BC143296,BG720537,BI463394,CR611711,CR623846,U40989,U67734,U74667,AK304664,NM_182710,NM_006388,NM_182709,AP001266,AY214165,CH471076,AB209813,AK130717,AK225100,AK226002 BAG65439,BAG36104,AAH00166,AAH64912,AAH93032,AAI17168,AAI43297,AAB02683,AAD00163,AAB18236,Q59EJ8,Q92993,ADR83372,NP_874369,NP_006379,NP_874368,AAO21130,EAW74427,EAW74428,EAW74429,EAW74430,EAW74431,EAW74432,BAD93050 Hs.397010 ESA1|HTATIP|HTATIP1|PLIP|TIP|TIP60|cPLA2 60 kDa Tat-interactive protein|HIV-1 Tat interacting protein, 60kDa|HIV-1 Tat interactive protein, 60kDa|K-acetyltransferase 5|Tat interacting protein, 60kDa|cPLA(2)-interacting protein|cPLA2 interacting protein|histone acetyltransferase HTATIP|histone acetyltransferase KAT5|hiv-1 tat interactive protein, 60 kd|lysine acetyltransferase 5 protein-coding 1353857 KATNA1 katanin p60 (ATPase-containing) subunit A 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. [provided by RefSeq] 1580863 10751153,18490357,15489334,14574404,12477932,11870226,10445032,10209026,9658175,9568719,8907702,8221885,20339000,20508983 11104 NM_007044,AL078581,BX276089,CH471051,AF056022,AK292090,BC050428,CR590166,CR600129,CR601101 NP_008975,CAI19504,CAI19505,CAI19506,CAI19507,CAI16431,CAI16432,CAI16433,CAI16434,EAW47793,EAW47794,EAW47795,AAC25114,BAF84779,AAH50428,O75449 Hs.450175 katanin p60 (ATPase-containing) subunit A 1|katanin p60 ATPase-containing subunit A1|katanin p60 subunit A1|p60 katanin protein-coding 1346255 KATNAL1 katanin p60 subunit A-like 1 737633,1580863 16189514,15489334,15057823,14702039,14623284,12477932,7829101 737633 84056 NM_032116,NM_001014380,AL356750,CH471075,AK097423,AK291439,AK315724,AW019882,BC000612,BX647147 NP_115492,NP_001014402,CAI13718,CAI13720,CAM18107,EAX08452,EAX08453,BAG53469,BAF84128,BAG38080,AAH00612,Q5T558,Q9BW62,ABM83565,ABM86803 Hs.243596 MGC2599 katanin p60 ATPase-containing subunit A-like 1|p60 katanin-like 1 protein-coding 1350599 KATNAL2 katanin p60 subunit A-like 2 737633,1580863 15146197,12477932,8889548,17207965,21173776 737633 83473 NM_031303,AC012254,AC090373,CH471096,AK309134,AL512748,BC034999,CA311572,CN303333,CR593634 NP_112593,EAW62901,EAW62902,EAW62903,EAW62904,CAC21672,AAH34999,Q8IYT4,Q9H038,ADQ31811 Hs.404137 DKFZp667C165|MGC33211 katanin p60 ATPase-containing subunit A-like 2|p60 katanin-like 2 protein-coding 1322615 KATNB1 katanin p80 (WD repeat containing) subunit B 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq] 1580863 10751153,18490357,17081983,16203747,15489334,15215300,12477932,10209026,9658175,9568719,8907702,8221885,6646120,15761153,19261606,20508983 10300 NM_005886,AC018552,AC092118,CH471092,AB209250,AF052432,BC001353,BT007022,BU501165,CA306372,CR456762 NP_005877,EAW82950,EAW82951,EAW82952,BAD92487,AAC09328,AAH01353,AAP35668,CAG33043,Q59G59,Q9BVA0,ABM81693 Hs.275675 KAT katanin (80 kDa)|katanin p80 (WD40-containing) subunit B 1|katanin p80 WD40-containing subunit B1|katanin p80 subunit B1|p80 katanin protein-coding 1321754 KAZALD1 Kazal-type serine peptidase inhibitor domain 1 This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. It contains an N-terminal insulin growth factor-binding domain, a central Kazal-type serine protease inhibitor and follistatin-like domain, and a C-terminal immunoglobulin-like domain. Studies of the mouse ortholog suggest that this gene product may have a function in bone development and bone regeneration. [provided by RefSeq] 737633,1580863 16385451,16344560,15555553,15489334,15340161,15261838,15164054,14702039,12975309,12477932,9373149,8125298 737633 81621 AL133215,CH471066,AF333487,AK172862,AK172864,AK225949,AY014271,AY359087,BC007758,NM_030929,DA422973,XR_110446,XR_111127,XR_114421 NP_112191,CAI10937,CAI10938,EAW49782,EAW49783,EAW49784,EAW49785,AAG50291,BAD18818,AAG50354,AAQ89445,AAH07758,Q96I82,ABM83683,ABM86979 Hs.534859,Hs.632079 BONO1|FKSG28|FKSG40|FLJ24094|IGFBP-rP10 IGFBP-related protein 10|Kazal-type serine protease inhibitor domain 1|bone- and odontoblast-expressed gene 1|kazal-type serine protease inhibitor domain 1|kazal-type serine protease inhibitor domain-containing protein 1|novel kazal-type serine protease inhibitor domain and immunoglobulin domain containing protein protein-coding 1351992 KBTBD10 kelch repeat and BTB (POZ) domain containing 10 737633,1580798,1580863 9655184,16396496,15489334,12477932,11583900,10713668,8889549,15983046,12692149,18029348 737633,1580798 10324 NM_006063,AC093899,CH471058,AA194290,AF056929,AF333387,AK316571,AY364252,BC006534 NP_006054,AAY24117,EAX11275,AAC13686,AAG52886,BAG38160,AAQ76811,AAH06534,O60662,Q3ZTS6,ABM86980,ABW03848 Hs.50550 FLJ60989|SARCOSIN kel-like protein 23|kelch repeat and BTB domain-containing protein 10|kelch-related protein 1|sarcomeric muscle protein protein-coding 1604839 KBTBD11 kelch repeat and BTB (POZ) domain containing 11 15592455,14508709,9872452,9314494 9920 NM_014867,AC019257,CH471181,AB018254,AF009203,AY762229 NP_055682,EAW51487,BAA34431,AAW83120,O94819,AAI69331,AAI69332 Hs.5333 KIAA0711|KLHDC7C chronic myelogenous leukemia-associated protein|kelch domain-containing protein 7B|kelch repeat and BTB domain-containing protein 11 protein-coding 3130125 KBTBD13 kelch repeat and BTB (POZ) domain containing 13 The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq] 11181995,16207353,16344560,21109227 390594 AC013553,CH471082,DB331058,NG_021411,NM_001101362 C9JR72,EAW77711,NP_001094832 Hs.586890,Hs.705349 HCG1645727 kelch repeat and BTB domain-containing protein 13 protein-coding 1321151 KBTBD2 kelch repeat and BTB (POZ) domain containing 2 1580863 15489334,12477932,10819331,10810093 25948 NM_015483,AACC02000103,AC018648,CH471073,AB040922,AF004292,AF151831,AF161402,AK024557,AK292802,AL117562,BC014633,BC032367,BC037887,BC047107,CR595245 NP_056298,EAL24459,EAW94000,EAW94001,EAW94002,BAA96013,AAD34068,AAF28962,BAF85491,CAB55994,AAH37887,AAH47107,Q8IY47,Q9P097 Hs.372541 BKLHD1 BTB and kelch domain containing 1|BTB and kelch domain-containing protein 1|kelch repeat and BTB domain-containing protein 2 protein-coding 1322060 KBTBD3 kelch repeat and BTB (POZ) domain containing 3 15489334,14702039,12477932,20353815 143879 NM_152433,NM_198439,AP001001,CH471065,AK055247,AK092993,AK124540,AK289915,BC047311,BC062667,BC107691,BC117466,BX640672,BX647830,CD104687 NP_689646,NP_940841,EAW67072,EAW67073,EAW67074,EAW67075,EAW67076,BAC04012,BAF82604,AAI07692,AAI17467,CAE45804,Q3B7C0,Q8NAB2,ACE87362,ACE86677,ADR83076 Hs.101949 BKLHD3|FLJ30685 BTB and kelch domain containing 3|BTB and kelch domain-containing protein 3|kelch repeat and BTB domain-containing protein 3 protein-coding 1321017 KBTBD4 kelch repeat and BTB (POZ) domain containing 4 16344560,15489334,14702039,12477932,11042152,9373149,16169070 55709 AK091607,AK222550,AK222985,AK225062,AL713735,BC002736,CR457270,CR611741,CR616082,DA016320,DA170281,DA559313,NR_024222,NM_016506,AC104942,CH471064,AF151086,AI282006,AK001312,AK001749,NM_018095 BAG52391,BAD96270,CAD28521,AAH02736,CAG33551,Q53HN0,Q8TB35,Q9NVX7,Q9P0M7,NP_060565,NP_057590,EAW67898,EAW67899,EAW67900,EAW67901,EAW67902,EAW67903,AAF36172,BAA91616,BAA91880 Hs.718483 BKLHD4|FLJ10450|HSPC252 BTB and kelch domain containing 4|BTB and kelch domain-containing protein 4|kelch repeat and BTB domain-containing protein 4 protein-coding 1313352 KBTBD5 kelch repeat and BTB (POZ) domain containing 5 12477932,14702039,15489334 131377 NM_152393,AC006059,CH471055,AI659482,AK056577,AK291294,AK300682,AY176040,AY177390,BC110491 NP_689606,EAW64664,EAW64665,BAB71222,BAF83983,BAG62365,AAO22141,AAO06908,AAI10492,Q2TBA0 Hs.350288 FLJ32015|MGC125350|SRYP kelch repeat and BTB domain-containing protein 5|sarcosynapsin protein-coding 1346287 KBTBD6 kelch repeat and BTB (POZ) domain containing 6 737633 15489334,14702039,12477932,20562859,19615732 737633 89890 NM_152903,AL354696,AL359577,AK023475,AK056633,AK095195,AK096608,AK299627,AL833839,BC000560,BC051349,BU928896,CD109431,CD557535,CR749688 NP_690867,CAI16611,BAB71238,BAC04826,CAD38699,AAH00560,AAH51349,Q86V97,ACE87695,ACE87007,BAG61555 Hs.534040 DKFZp547E1912|DKFZp547M073|FLJ58260 kelch repeat and BTB domain-containing protein 6 protein-coding 1312909 KBTBD7 kelch repeat and BTB (POZ) domain containing 7 737633 20562859,16381901,16189514,16169070,15489336,15489334,14702039,12477932,11230166,11076863,20132730 737633 84078 AL354696,CH471075,AK091344,AK299614,AK315589,NM_032138,AL136782,BC022033,CR533558,FJ150424 Q8WVZ9,CAL37913,CAL38452,ABM81764,ABM84920,NP_115514,CAI16613,EAX08647,BAC03641,BAG61542,BAG37961,CAB66716,AAH22033,CAG38589,ACH92650,Q6FI68 Hs.63841 DKFZp434E2318 kelch repeat and BTB domain-containing protein 7 protein-coding 1606999 KBTBD8 kelch repeat and BTB (POZ) domain containing 8 16344560,15489334,14702039,12477932,11347906,19893584 84541 NM_032505,AC020655,CH471055,AB058745,AF385438,AK096640,AK300397,BC117487,DA246470,DB065239 ADR83380,NP_115894,EAW65454,BAB47471,AAM43839,BAG62128,AAI17488,Q8NFY9 Hs.116665 FLJ57592|KIAA1842|TA-KRP T-cell activation kelch repeat protein|kelch repeat and BTB domain-containing protein 8 protein-coding 1315004 KCMF1 potassium channel modulatory factor 1 1580863 16314831,15581609,14702039,12810064,12477932,9110174,8619474 56888 AC022210,AC078974,CH471053,AB083199,AF131740,AF155652,AK023403,AK311099,AK314761,AL122115,AW466865,BC000178,NM_020122,BU844982,CR607426,CR617449,CR619076,CT004343 NP_064507,AAY24192,AAX88897,EAW99544,EAW99545,EAW99546,BAC43745,AAF67009,BAB14563,BAG37299,CAB59274,AAH00178,Q9P0J7,ABM85005 Hs.654968 DEBT91|DKFZp434L1021|FIGC|PCMF|ZZZ1 E3 ubiquitin-protein ligase KCMF1|FGF-induced in gastric cancer|FGF-induced ubiquitin-protein ligase in gastric cancers|ZZ-type zinc finger-containing protein 1|differentially expressed in branching tubulogenesis 91|zinc finger, ZZ domain containing 1 protein-coding 1346938 KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq] 1580863 8938729,8871592,8821794,8541859,7477295,8845167,7842011,19307729,19202350,18926884,18474843,17912752,17136396,16382104,16344560,15837928,15532032,15486093,15351427,15136567,12944270,12907802,12893943,12799903,12477932,12435606,11960817,11773313,11097830,11026449,11013453,10624965,10355668,9600245,2128063,1349297,10428084,14592966,19913121,20628086,20660867,19205071,19903818,19912772 3736 NM_000217,NG_011815,AC006063,CH471116,BC101733,BC112180,DA236475,L02750 NP_000208,EAW88833,AAI01734,AAI12181,AAA36139,Q09470 Hs.416139 AEMK|EA1|HBK1|HUK1|KV1.1|MBK1|MGC126782|MGC138385|MK1|RBK1 potassium voltage-gated channel subfamily A member 1|voltage-gated K(+) channel HuKI|voltage-gated potassium channel HBK1|voltage-gated potassium channel subunit Kv1.1 protein-coding 1312242 KCNA10 potassium voltage-gated channel, shaker-related subfamily, member 10 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq] 1580863 19913121,20628086,9177773,16382104,12477932,12444201,12060596,10836990,7789190 3744 NM_005549,AL358215,CH471122,S77547,U96110,BC074990,CA309199 NP_005540,CAH74103,EAW56454,AAB34663,AAC51333,AAH74990,Q16322,Q7KYZ7 Hs.248140,Hs.622910 Kcn1|Kv1.8 cyclic GMP gated potassium channel|potassium voltage-gated channel subfamily A member 10|voltage-gated potassium channel subunit Kv1.8 protein-coding 735518 KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq] 1580863 1715584,2251283,18474843,18053989,18042681,18003609,17959782,17576778,17234891,16382104,15588985,15215309,14592966,12944270,12911333,12815189,12477932,12435606,12395204,12151401,11739373,11401852,10896669,10624965,10516156,10428758,10428084,9878055,9635436,8938729,8889548,8662756,8636142,8002006,7905852,7477295,2722779,21044565,11551945,12213813,12569367,12917345,19403695,19435843,19713757,19883299,19912772 3737 NM_004974,AL365361,CH471122,AK290061,BC043564,BI907383,BM682747,L02752,NG_027997 NP_004965,CAH71982,EAW56455,EAW56456,BAF82750,AAH43564,P16389,Q86XG6,AAA36141 Hs.248139,Hs.657199 HBK5|HK4|HUKIV|KV1.2|MGC50217|MK2|NGK1|RBK2 potassium channel|potassium voltage-gated channel subfamily A member 2|voltage-gated K(+) channel HuKIV|voltage-gated potassium channel HBK5|voltage-gated potassium channel protein Kv1.2|voltage-gated potassium channel subunit Kv1.2 protein-coding 1342945 KCNA3 potassium voltage-gated channel, shaker-related subfamily, member 3 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq] 1580863 1986382,1373731,19489042,19409928,19295169,19104661,18818304,18611390,17878353,17854350,17582781,17579055,17242956,17160583,17088564,16729292,16382104,16317062,16043714,15632141,15489334,14745040,12909584,12850541,12807917,12632187,12604782,12477932,12150982,7829094,2251283,1547020,9341123,10428084,12944270,10479680,12435606,19371328,19465885,19574640,19590190,19712592,19841189,19850126,19959227,19961728,20060838,20371822,7477295,8938729,20798505,20114030 3738 NM_002232,AL365361,CH471122,M38217,M55515,AA811374,BC035059,BC064595,CA438434,L23499,M85217 NP_002223,CAH71983,EAW56457,AAB88073,AAA36425,AAH35059,AAH64595,AAC31761,AAA59457,P22001,Q6P2D3,ABM82589,ABM85776 Hs.169948 HGK5|HLK3|HPCN3|HUKIII|KV1.3|MK3|PCN3 potassium channel 3|potassium voltage-gated channel subfamily A member 3|type n potassium channel|voltage-gated K(+) channel HuKIII|voltage-gated potassium channel protein Kv1.3|voltage-gated potassium channel subunit Kv1.3 protein-coding 731771 KCNA4 potassium voltage-gated channel, shaker-related subfamily, member 4 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influnce the duration of cardiac action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq] 1580863 9786987,2001794,18640987,17959711,17156368,16637659,16382104,16308273,16169070,15955806,15136567,12860415,12435606,12065763,11997254,11744724,11723117,11389904,11352924,10428758,10428084,9581762,9024696,8938729,8601796,8449523,7905852,7477295,2263489,1986382,1487251,1362562,11278603,19453640,19912772,19961828 3739 NM_002233,AC124657,AK311228,BE467209,L02751,M55514,M60450 NP_002224,AAA36140,AAA60034,AAA61275,P22459,AAI66685 Hs.592002 HBK4|HK1|HPCN2|HUKII|KCNA4L|KCNA8|KV1.4|PCN2 cardiac potassium channel|fetal skeletal muscle potassium channel|potassium channel 2|potassium voltage-gated channel subfamily A member 4|potassium voltage-gated channel, shaker-related subfamily, member 4-like|rapidly inactivating potassium channel|shaker-related potassium channel Kv1.4|type A potassium channel|voltage-gated K(+) channel HuKII|voltage-gated potassium channel HBK4|voltage-gated potassium channel HK1|voltage-gated potassium channel subunit Kv1.4 protein-coding 731065 KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. [provided by RefSeq] 1627654,1627659,1627651,1580863 12970345,12850541,12815189,12601085,12477932,12435606,12130714,12021261,11389904,11149959,10921884,10812072,9760292,9271355,8953041,8821794,8242092,7838127,7615797,2001794,1349297,12860415,1986382,16780588,19443837,19343045,19029374,18987637,18755741,18485768,18385285,18281375,18245566,18218624,18209767,18157847,18083891,18068743,17868645,17428690,17344312,17267549,16956964,16902793,16765315,16729292,16466689,16411137,16382104,16236819,16051887,15735608,15623896,15588985,15353504,15217912,15140747,14578345,14527939,13679372,20581043,20798505,19913121,20556823,20628086,20646426,19332619,19675065,19706553,19961828,20018952,20025600,20133392,20346360,20357183,20638934,20184887 1627654,1627659,1627651 3741 NM_002234,NG_012198,AC005906,CH471116,BC096357,BC096358,BC099665,BC099666,M55513,M60451,M83254 NP_002225,EAW88830,AAH96357,AAH96358,AAH99665,AAH99666,AAA36422,AAA61276,AAA60146,P22460 Hs.150208 ATFB7|HCK1|HK2|HPCN1|KV1.5|MGC117058|MGC117059|PCN1 cardiac potassium channel|insulinoma and islet potassium channel|potassium channel 1|potassium channel protein|potassium voltage-gated channel subfamily A member 5|voltage-gated potassium channel HK2|voltage-gated potassium channel protein Kv1.5|voltage-gated potassium channel subunit Kv1.5 protein-coding 731012 KCNA6 potassium voltage-gated channel, shaker-related subfamily, member 6 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq] 1580863 18474843,18162557,16382104,15489334,12477932,8821794,2347305,20379614,17207965 3742 NM_002235,AC005833,CH471116,AI369246,AK057863,BC069355,X17622,AC006063 NP_002226,EAW88834,AAH69355,CAA35623,P17658,ADQ31926 Hs.306190 FLJ25134|HBK2|KV1.6 human brain potassium channel-2|potassium voltage-gated channel subfamily A member 6|voltage-gated potassium channel HBK2|voltage-gated potassium channel protein Kv1.6|voltage-gated potassium channel subunit Kv1.6 protein-coding 1320074 KCNA7 potassium voltage-gated channel, shaker-related subfamily, member 7 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq] 1580863 16382104,15639836,11896454,11368907,9488722,12477932 3743 NM_031886,AC008687,CH471177,AF315818,AJ310479,AY779768,BC140906 NP_114092,EAW52444,AAK63002,CAC29065,AAX11186,AAI40907,Q96RP8 Hs.306973 HAK6|KV1.7 potassium voltage-gated channel subfamily A member 7|voltage-dependent potassium channel Kv1.7|voltage-gated potassium channel KCNA7|voltage-gated potassium channel subunit Kv1.7 protein-coding 1607081 KCNAB1 potassium voltage-gated channel, shaker-related subfamily, beta member 1 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes three distinct isoforms which are encoded by three alternatively spliced transcript variants of this gene. These three isoforms are beta subunits, which form heteromultimeric complex with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq] 10477520,20379614,7499366,18987637,17913586,17903295,16344560,15489334,14702039,14592966,12477932,11401852,10756096,9857044,9341123,8938711,8838324,8636142,7890764,7890032,7649300,7603988,8001150,17207965,20800603 7881 NM_003471,NM_172159,AC022013,AC069413,AC084036,AC091607,AC092927,AC112772,CH471052,AI344124,AK057059,AK127240,AK292693,AK292999,AK296728,AK303287,AU076410,AY780786,BC043166,BQ721076,DA331209,DA408045,DC410397,L39833,L47665,U16953,U17968,U33428,NM_172160 Q5MJQ3,NP_751892,NP_003462,NP_751891,EAW78732,EAW78733,EAW78734,EAW78735,EAW78736,BAG51856,BAG54461,BAF85382,BAF85688,BAH12421,BAH13931,AAV98356,AAH43166,AAC37573,AAC41926,AAC50122,AAC50113,AAC50953,Q14722,ADQ33020 Hs.654519,Hs.703187 AKR6A3|KCNA1B|KV-BETA-1|Kvb1.3|hKvBeta3|hKvb3 K(+) channel subunit beta-1|OTTHUMP00000213125|OTTHUMP00000213127|potassium channel beta 3 chain|potassium channel beta3 subunit|potassium channel shaker chain beta 1a|potassium voltage-gated channel beta subunit|voltage-gated potassium channel beta-1 subunit|voltage-gated potassium channel subunit beta-1 protein-coding 1354203 KCNAB2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 10477520,7649300,16713569,16710414,15592455,15489334,14702039,12893943,12477932,12431995,10624965,10428084,9760292,8838324,8636142,8001150,16344560 8514 AK315858,BC110351,BC126424,BC130413,BI907219,CR542264,CR542287,U33429,NM_172130,AL035406,CH471130,CS252321,CS252323,AF029749,AF044253,AK124696,AK131252,AK289819,AK290044,AK312395,AK312871,AK315811,NM_003636,DA340179,NM_001199860,NM_001199861,NM_001199862,NM_001199863,AW327942 BAF98702,BAF98749,AAI10352,AAI26425,AAI30414,CAG47060,CAG47082,AAC50955,Q13303,Q2YD85,Q5TG78,Q5TG79,Q5TG80,Q5TG81,Q5TG84,Q6FG22,Q6FG44,Q6ZNE4,NP_003627,NP_742128,CAC08512,CAI19884,CAI19885,CAI19886,CAI19887,CAI19888,CAI19889,EAW71512,EAW71513,EAW71514,EAW71515,CAJ58415,CAJ58416,AAB84170,AAB99859,BAG54071,BAD18431,BAF82508,BAF82733,BAG35312,BAG35723,NP_001186789,NP_001186790,NP_001186791,NP_001186792,ADR82976 Hs.440497 AKR6A5|HKvbeta2|HKvbeta2.1|HKvbeta2.2|KCNA2B|KV-BETA-2|MGC117289 K(+) channel subunit beta-2|K+ channel beta-2 subunit|OTTHUMP00000000874|OTTHUMP00000000875|OTTHUMP00000000877|OTTHUMP00000000878|OTTHUMP00000000885|potassium channel shaker chain beta 2|voltage-gated potassium channel subunit beta-2 protein-coding 1350747 KCNAB3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member and the KCNA5 gene product assemble into a heteromultimeric A-type channel that inactivates completely and is significantly faster than other A-type Kv channels. [provided by RefSeq] 1580863 9857044,17081983,15489334,12477932,8889548,7649300 9196 NM_004732,AC104581,CH471108,AF016411,AK309807,AL079287,BC096232,BC096233,BC096234,BC099634,BM727261 NP_004723,EAW90112,AAB92499,AAH96232,AAH96234,AAH99634,O43448 Hs.435074 AKR6A9|KCNA3.1B|KCNA3B|KV-BETA-3|MGC116886 K(+) channel subunit beta-3|K+ channel beta-3 subunit|potassium channel, voltage-dependent, beta-3 subunit|voltage-gated potassium channel subunit beta-3 protein-coding 732211 KCNB1 potassium voltage-gated channel, Shab-related subfamily, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq] 2311121,1580863 10484328,11852086,19265782,19074135,18690023,18212012,16880266,16382104,16008572,15827117,15353504,15024041,12615930,12560340,12477932,12403834,12060745,12021261,11780052,10921884,10551266,9362476,8980147,8670833,8081723,7774931,19223394,19454037,19717445,20379614,20709754,20566856 2311121 3745 NM_004975,AL035685,CH471077,X68302,AF026005,BC110572,BC110573,L02840 NP_004966,CAB89417,EAW75656,CAA48374,AAB88808,AAI10573,AAI10574,AAA36156,Q14721,Q2NLD5,AAI56167,AAI72466 Hs.84244 DRK1|KV2.1|h-DRK1 delayed rectifier potassium channel 1|delayed rectifier potassium channel Kv2.1|h-DRK1 K(+) channel|potassium channel protein DRK1|potassium voltage-gated channel subfamily B member 1|voltage-gated potassium channel subunit Kv2.1 protein-coding 732631 KCNB2 potassium voltage-gated channel, Shab-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq] 1580863 9612272,17474147,19010793,18676988,17903301,16382104,14988243,8670833,20125193,20379614 9312 NM_004770,AC011131,AC013562,AC022881,AC022893,AC090735,CH471068,AF338730,AF450111,U69962 NP_004761,EAW86988,AAK16585,AAP46292,AAB08433,Q92953,AAI40388 Hs.661102 KV2.2 delayed rectifier potassium channel protein|potassium channel Kv2.2|potassium voltage gated channel, shab-related subfamily, member 2|potassium voltage-gated channel subfamily B member 2|voltage-gated potassium channel subunit Kv2.2 protein-coding 735437 KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Multiple transcript variants encoding different isoforms have been inferred for this gene based on orthologous loci. [provided by RefSeq] 1580863 8449507,1400413,16382104,16344560,14702039,12805291,12477932,12060745,7559593,19913121,20628086,19332619,21106837 3746 NM_004976,NM_001112741,AC124056,AC124078,AC124301,CH471064,AI201688,AK123157,AK124243,AK125480,AW452561,BC107129,DA495469,DN993192,L00621,M96747,S56770 NP_004967,NP_001106212,EAW68425,EAW68426,AAI07130,AAA59458,AAB25764,P48547,Q3KNS8 Hs.552896 FLJ41162|FLJ42249|FLJ43491|KV3.1|KV4|MGC129855|NGK2 potassium voltage-gated channel subfamily C member 1|voltage-gated potassium channel protein KV3.1|voltage-gated potassium channel subunit Kv3.1|voltage-gated potassium channel subunit Kv4 protein-coding 736950 KCNC2 potassium voltage-gated channel, Shaw-related subfamily, member 2 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 1580863 16382104,14702039,12477932,8111118,12805291,19332619 3747 NM_139136,NM_139137,AC073525,AC091534,AC130405,CH471054,AB209994,AF268896,AF268897,AK094720,AK309245,AY118169,AY243473,BC093635,BC111991,NM_153748,AK294269 NP_631874,NP_631875,EAW97287,EAW97288,EAW97289,EAW97290,EAW97291,EAW97292,EAW97293,EAW97294,BAE06076,AAL27272,AAL27273,BAC04407,AAM81577,AAO89503,AAH93635,AAI11992,Q96PR1,NP_715624,BAH11717 Hs.27214 KV3.2|MGC138196 potassium voltage-gated channel subfamily C member 2|voltage-gated potassium channel Kv3.2 protein-coding 733063 KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. [provided by RefSeq] 1580863 1740329,18592334,16501573,16382104,15148151,10820125,10712820,8917565,8111118,19953606 3748 NM_004977,NG_008134,AC008655,CH471135,Z11585,AB208930,AF055989,AK127492 NP_004968,EAW71844,CAA77671,BAD92167,AAC24118,BAC87004,Q14003,Q59H29,Q6ZSE9,AAI56303 Hs.467146 KSHIIID|KV3.3|SCA13 OTTHUMP00000042078|Shaw-related voltage-gated potassium channel protein 3|potassium voltage-gated channel subfamily C member 3|voltage-gated potassium channel protein KV3.3|voltage-gated potassium channel subunit Kv3.3 protein-coding 1348258 KCNC4 potassium voltage-gated channel, Shaw-related subfamily, member 4 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20707712,1920536,1381835,16710414,16449802,16382104,15489334,15485486,12477932,9649584,7993631,1740329,16341674,16344560,20378681,20593490,20093253 3749 NM_004978,NM_001039574,AL137790,CH471122,AK125567,AK310193,BC025377,BC101769,BF969982,BX098184,BX537638,M64676,AI369490,DA111555,DA404087,DA936036,BM765446,CK823243,DA902474,NR_036437 NP_004969,NP_001034663,CAI18831,EAW56433,EAW56434,EAW56435,EAW56436,AAI01770,AAA57263,Q03721 Hs.153521 HKSHIIIC|KSHIIIC|KV3.4|MGC126818 K+ channel subunit|potassium voltage-gated channel subfamily C member 4|voltage-gated potassium channel subunit KV3.4 protein-coding 1347714 KCND1 potassium voltage-gated channel, Shal-related subfamily, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This gene is expressed at moderate levels in all tissues analyzed, with lower levels in skeletal muscle. [provided by RefSeq] 724442,1581430 14702039,12477932,11423117,10729221,10479680,19401188,16382104,15489334,15454437 724442,1581430 3750 AK315092,NM_004979,NG_012515,AF166006,AF207550,CH471224,AB021865,AF166003,AJ005898,AK094431,BC045659 Q9NSA2,NP_004970,AAF65617,EAW50720,EAW50721,BAA96454,AAF65516,CAA06755,BAG52865,BAG37557,AAH45659 Hs.55276 KV4.1 OTTHUMP00000025806|potassium voltage-gated channel subfamily D member 1|shal-type potassium channel|voltage-gated potassium channel Kv4.1|voltage-gated potassium channel subunit Kv4.1 protein-coding 68574 KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq] 1581430,1580863 11287421,11102480,12493773,19401682,19213956,19171772,18463498,18364354,17981906,17102134,16934482,16820361,16382104,16260497,15991246,15563876,15489334,15454437,15358149,15184042,14980207,14980201,14623880,14559911,12853948,12690205,12477932,12451113,12435606,11847232,11606724,10942109,10729221,10676964,10551270,10479680,10470851,9843794,20498229,19596445,20031566,20379614,19453640,20709747 1581430 3751 NM_012281,AC004888,AC004946,AC006332,AC007026,AC073884,AC092020,AF142568,AF166007,AF166008,CH236947,CH471070,AB028967,AF121104,AJ010969,BC110449,BC110450 NP_036413,AAC83405,AAS07530,AAD52159,AAF65618,EAL24350,EAW83541,BAA82996,AAD22053,CAB56841,AAI10450,AAI10451,Q75LS7,Q9NZV8 Hs.654739 KIAA1044|KV4.2|MGC119702|MGC119703|RK5 potassium voltage-gated channel subfamily D member 2|voltage-gated potassium channel Kv4.2|voltage-gated potassium channel subunit Kv4.2|voltage-sensitive potassium channel protein-coding 68576 KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq] 1581430 8734615,19213956,18678642,18620005,18052691,17725712,17506992,16782062,16710414,16382104,15890703,15578212,15563876,15498806,14980207,14645239,12928444,12477932,12297301,10942109,10729221,10200233,9843794,20354865,20550899,19927631,20379614,20649599 1581430 3752 NM_172198,NM_004980,AF137071,AF166009,AF166011,AL049557,AL390070,AL450997,AL512665,CH471122,AF048712,AF048713,AF120491,AF187963,AF187964,AF205856,AF205857,BC113475,BC113477,BC143390 NP_751948,NP_004971,AAF68177,AAF68178,CAB55687,CAI22711,CAI19096,CAI19097,CAI16955,CAI16956,EAW56510,EAW56511,EAW56512,AAC05121,AAC05122,AAD38898,AAF01044,AAF01045,AAF20924,AAF20925,AAI13476,AAI13478,AAI43391,Q9UK17,ADR83090 Hs.666367 KCND3L|KCND3S|KSHIVB|KV4.3|MGC142035|MGC142037 OTTHUMP00000013772|potassium ionic channel Kv4.3|potassium voltage-gated channel subfamily D member 3|sha1-related potassium channel Kv4.3|voltage-gated K+ channel|voltage-gated potassium channel Kv4.3|voltage-gated potassium channel subunit Kv4.3 protein-coding 736969 KCNE1 potassium voltage-gated channel, Isk-related family, member 1 The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580498,1580499,1580502,1580863 20139709,9354802,9230439,9020846,8900283,9445165,16780588,19660109,19523148,19521339,19372218,19340287,19322600,19305639,19305408,19219384,19218243,19202166,19156197,19149796,19139916,19131515,19019189,18956684,18931301,18803136,18757482,18674739,18611041,18504315,18441444,18426444,18398469,18279388,18157847,18079560,17980676,17895974,17892302,17646758,17626898,17545244,17534376,17443681,17384445,17341399,17310097,17275752,17227789,17210839,17165161,17141204,17065152,17905336,17016049,16823764,16818214,16631607,16610241,16563243,16487842,16487223,16414944,16374062,16344560,16308347,16303284,16266404,16132053,15840476,15746444,15698834,15489334,15389592,15176425,15051636,14761891,14760488,14702039,14661677,14527430,12634932,12477932,12228786,12084623,11891569,11874988,11799244,11714488,11697903,11692163,11289718,11104781,10973849,10830953,10493825,10400998,9354783,9328483,9312006,8899564,8432548,7828904,7622063,2730656,11101505,16155735,20920651,20962273,21063070,21063774,21070882,19913121,20553101,20628086,1553557,19695459,19716085,19860128,19907016,19940153,20034061,20062063,20108749,20117060,20185111,20215044,20298200,20386770,20400777,20424473,20479109 1580498,1580499,1580502 3753 NM_001127668,NM_001127669,NM_001127670,NG_009091,AP000323,AP000324,AP000325,AP000326,CH471079,DQ784803,L33815,M26685,AF135188,AK095442,AK304336,AK311384,AK313543,AY789479,AY789480,BC036452,BC046224,BC069055,CD370857,CR541756,DB089177,EF514882,EF514883,EU008568,EU008569,EU008570,L28168,NM_000219,EF514881 NP_001121140,NP_001121141,NP_001121142,EAX09783,ABQ01238,AAA63905,AAA36129,AAD25096,BAG65181,BAG36319,AAX11417,AAX11418,AAH36452,AAH46224,CAG46556,ABS84250,ABS84251,ABS31132,ABS31133,ABS31134,AAA58418,P15382,Q5DI96,Q6FHJ6,NP_000210,ABS84249 Hs.121495 FLJ18426|FLJ38123|FLJ94103|ISK|JLNS|JLNS2|LQT2/5|LQT5|MGC33114|MinK IKs producing slow voltage-gated potassium channel subunit beta Mink|OTTHUMP00000108624|OTTHUMP00000108626|cardiac delayed rectifier potassium channel protein|delayed rectifier potassium channel subunit IsK|minimal potassium channel|potassium voltage-gated channel subfamily E member 1|potassium voltage-gated channel, Isk-related subfamily, member 1|voltage gated potassiun channel accessory subunit protein-coding 1345038 KCNE1L KCNE1-like Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. [provided by RefSeq] 1580863 10493825,18313602,16303284,16054468,15489334,15368194,15193977,12477932,9373149,8125298 23630 NG_013241,NM_012282,AL118496,CH471120,DQ784807,AF086499,AJ012743,AK223306,AK314923,BC035330,DQ192294,EF535525 NP_036414,CAD19002,EAX02676,ABQ01242,CAB58359,BAD97026,BAG37431,AAH35330,ABB00307,ABQ08564,Q2N1H9,Q53FI0,Q5JWV7,Q9UJ90,ABM82213,ABM85397,ABM87648,ABM87655,ABM87658,ABM87663 Hs.522753 KCNE5 AMME syndrome candidate gene 2 protein|AMMECR2 protein|cardiac voltage-gated potassium channel accessory subunit 5|potassium voltage-gated channel subfamily E member 1-like protein|potassium voltage-gated channel, Isk-related family, member 1-like protein-coding 731917 KCNE2 potassium voltage-gated channel, Isk-related family, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq] 633041,1580501,1580502,1580863 20738937,20920651,20971364,21063070,21063774,10219239,16780588,19372218,19322600,19219384,19198609,19149796,19077539,18752142,18676988,18501111,18221016,17905336,17895974,17676362,17534376,17310097,17275752,17210839,16818214,16631607,16487842,16487223,16414944,16303284,15840476,15746444,15489334,15368194,15176425,15066947,15051636,14760488,14661677,12923204,12856183,12477932,12185453,11874988,11329013,11313306,11289718,11278781,11101505,11034315,10830953,19913121,20628086,19716085,20042375,20108749,20298200,20386770,20400777,20625512 633041,1580501,1580502 9992 NM_172201,NG_008804,AP000320,CH471079,DQ784804,AF071002,AF086086,AF302095,BC093892,BC112087,BG221966,DQ192290 NP_751951,EAX09790,EAX09791,ABQ01239,AAD28086,AAG13416,AAH93892,AAI12088,ABB00303,Q2N1I3,Q9Y6J6 Hs.551521,Hs.679753 ATFB4|LQT5|LQT6|MGC138292|MIRP1 cardiac voltage-gated potassium channel accessory subunit 2|minK-related peptide 1|minK-related peptide-1|minimum potassium ion channel-related peptide 1|potassium channel subunit beta MiRP1|potassium channel subunit, MiRP1|potassium voltage-gated channel subfamily E member 2|voltage-gated K+ channel subunit MIRP1 protein-coding 1347000 KCNE3 potassium voltage-gated channel, Isk-related family, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq] 633041,1580863,1600040 19122847,19961415,20034061,20040519,19306396,19077539,18209471,17495071,16782062,16449802,16374062,16341674,16308347,16303284,15489334,15212652,15037716,14504341,12477932,12414843,11956246,11874988,11680623,11207363,11104781,10646604,10219239,8889548,19913121,20628086 633041,1600040 10008 NG_011833,AP001372,CH471076,DQ784805,AF076531,AF302494,AK311876,BC032235,BC110612,BC113743,BM757131,CD709836,CK301015,CR457209,CR936625,DQ192291,DQ192292,DR006135,NM_005472 NP_005463,EAW74938,ABQ01240,AAD28089,AAG16255,BAG34817,AAI10613,AAI13744,CAG33490,CAI56768,ABB00304,ABB00305,Q2N1I1,Q6IAE6,Q9Y6H6,ABM81941 Hs.523899 DKFZp781H21101|HOKPP|HYPP|MGC102685|MGC129924|MiRP2 cardiac voltage-gated potassium channel accessory subunit|minK-related peptide 2|minimum potassium ion channel-related peptide 2|potassium channel subunit beta MiRP2|potassium voltage-gated channel subfamily E member 3|voltage-gated K+ channel subunit MIRP2 protein-coding 1346142 KCNE4 potassium voltage-gated channel, Isk-related family, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq] 633041,1580863 12477932,12096056,10219239,8889548,20498229,20966902,18029348,19029186,18463315,18279388,17016049,16303284,15815621,15707997,15489334,15342556,12944270,16563243,12670483,19684603,19773357 633041 23704 NM_080671,AC017014,CH471063,DQ784806,AK294423,AK313203,AY065987,BC014429,BM662449,BP348485,BP359441,BP362695,DQ192293 NP_542402,AAX93228,EAW70810,ABQ01241,BAH11761,BAG36019,AAL49979,AAH14429,ABB00306,Q2N1I0,Q8WWG9,ABM83442,ABW03499 Hs.348522 MGC20353|MIRP3 MINK-related peptide 3|cardiac voltage-gated potassium channel accessory subunit 4|minimum potassium ion channel-related peptide 3|potassium channel subunit beta MiRP3|potassium voltage-gated channel subfamily E member 4 protein-coding 735852 KCNF1 potassium voltage-gated channel, subfamily F, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq] 1580863 9434767,16382104,15489334,12477932,12060745 3754 NM_002236,AC019041,CH471053,AF029780,AF033382,BC026110 NP_002227,AAX81991,EAX00946,AAG43055,AAC05597,AAH26110,Q9H3M0,ABW03736 Hs.23735 IK8|KCNF|KV5.1|MGC33316|kH1 potassium channel KH1|potassium channel Kv5.1|potassium voltage-gated channel subfamily F member 1|voltage-gated potassium channel subunit Kv5.1 protein-coding 1604067 KCNG1 potassium voltage-gated channel, subfamily G, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq] 9434767,16382104,16344560,15489334,15146197,12477932,11780052,8980147 3755 AL050404,AL121785,CH471077,AF033383,AK290689,AW162513,BC006367,BC046629,BG029104,NM_002237,CN301212,CN480356,DA576272,DA580190,DA684016 NP_002228,CAB51753,CAI23445,CAI23446,EAW75605,AAC05635,BAF83378,AAH06367,AAH46629,Q5JXL4,Q5JXL5,Q86Y85,Q9UIX4 Hs.118695,Hs.713353 K13|KCNG|KV6.1|MGC12878|kH2 OTTHUMP00000165779|potassium channel KH2|potassium channel Kv6.1|potassium voltage-gated channel subfamily G member 1|voltage-gated potassium channel subunit Kv6.1 protein-coding 1319904 KCNG2 potassium voltage-gated channel, subfamily G, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq] 1580863 10551266,16382104 26251 NM_012283,AC114341,AJ011021,GM674295 NP_036415,CAB56834,Q9UJ96,AAI69276,AAI69278,CAV32986 Hs.247905 KCNF2|KV6.2 cardiac potassium channel subunit|potassium voltage-gated channel subfamily G member 2|voltage-gated potassium channel subunit Kv6.2 protein-coding 735863 KCNG3 potassium voltage-gated channel, subfamily G, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq] 727345,1580863 11852086,12060745,19074135,16382104,15489334,15046870,12477932,17207965 727345 170850 NM_133329,NM_172344,AC025750,CH471053,AB070604,AF348982,AF454547,AF454548,BC071558 NP_579875,NP_758847,AAY24039,EAX00318,EAX00319,BAB85520,AAL83909,AAM93548,AAM93549,AAH71558,Q8TAE7,ADQ31921 Hs.352633 KV10.1|KV6.3 OTTHUMP00000201478|OTTHUMP00000201479|potassium voltage-gated channel subfamily G member 3|voltage-gated potassium channel 6.3|voltage-gated potassium channel Kv10.1|voltage-gated potassium channel subunit Kv10.1|voltage-gated potassium channel subunit Kv6.3|voltage-gated potassium channel subunit Kv6.4 protein-coding 1318394 KCNG4 potassium voltage-gated channel, subfamily G, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq] 1580863 19074135,16382104,16096342,15489334,12477932,12060745,8889548,20379614,19717558 93107 NM_172347,AC009123,CH471114,AF348984,AF450108,BC008969,BC109203,BQ185567 NP_758857,EAW95488,EAW95489,EAW95490,AAL83911,AAP46289,AAH08969,AAI09204,Q32MC1,Q547S7,Q8TDN1,ABM84180,ABM87582 Hs.335877,Hs.560407 KV6.3|KV6.4|MGC129609|MGC4558 potassium voltage-gated channel subfamily G member 4|potassium voltage-gated channel, subfamily G, member 4, isoform 1|voltage-gated potassium channel Kv6.3|voltage-gated potassium channel subunit Kv6.4 protein-coding 68584 KCNH1 potassium voltage-gated channel, subfamily H (eag-related), member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 9738473,19172261,18927085,18650019,18222922,18080766,17873312,17520698,17451210,17360457,17022811,16537547,16478480,16382104,15548764,15466192,12477932,12060745,11943152,11834728,10880439,10523298,9722534,8159766,20708613,20523736,19932096,20083228,20105281,20116193,20201926,20379614,20933057,20126398 3756 NM_172362,NM_002238,AC092017,AC096636,AC099755,AL590132,AL603791,CH471100,AF078741,AF078742,AJ001366,BC113709,BC143599,AK127526 NP_758872,NP_002229,CAH71752,CAH71753,EAW93424,EAW93425,AAC68668,AAC68669,CAA04700,AAI13710,AAI43600,O95259 Hs.553187 EAG|EAG1|Kv10.1|MGC142269|h-eag EAG channel 1|ether-a-go-go potassium channel 1|ether-a-go-go, Drosophila, homolog of|hEAG1|potassium channel, voltage-gated, subfamily H, member 1|potassium voltage-gated channel subfamily H member 1|voltage-gated potassium channel subunit Kv10.1 protein-coding 732101 KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580503,1580502,1580863 20660661,20662825,17895974,17852802,17823114,17763876,17762170,17709632,17693551,17624316,17576861,17569659,17560885,17534376,17531263,17516459,17444521,17429906,17420287,17363390,17311278,17293393,17275752,17272276,17239714,17227789,17210839,17171344,17120019,17056009,17042915,16923798,16914520,16883575,16880338,16818214,16771953,16769794,16723117,16556651,16550488,16524878,16506891,16487842,16487223,16474003,16472284,16467651,16432067,16414944,16407206,16399053,16382104,16265378,16263765,16253915,16244363,16166152,16155735,16132053,16011830,15973763,15961404,15851119,15840476,15828882,15800067,15778703,15760896,15746444,15699249,15572050,15534720,15528201,15522280,15489334,15475579,15367556,15365637,15365094,15364333,15304481,15231497,15211519,15202000,15181157,15176425,15120823,15051636,14998624,14975928,14973143,14760488,14744775,14714110,14676148,14674677,14661677,14525949,12902341,12885765,12853948,12849668,12829173,12804575,12736144,12695533,12690509,12690205,12634931,12626667,12621127,12593854,12560090,12527373,12477932,12442276,12431979,12427763,12402336,12354768,12270925,12209010,12151390,12142119,12063277,12062363,12021266,11864985,11854117,11743032,11741928,11374908,11289718,11278781,11170080,11136691,10996323,10973849,10862104,10862094,10837251,10790218,10735633,10517660,10220144,10219239,10187793,10086971,9845367,9765245,9714291,9693036,9600240,9544837,9511785,9509262,9351462,9351446,9230439,11997281,11953308,9024139,8914737,8877771,8635257,8587608,8159766,7889573,7842012,7604285,16169070,20097192,20547678,20693282,20712994,20831043,20833965,20851114,20855658,20875080,21063070,21063774,21070882,20947828,21044581,20920651,20931094,7736582,19551538,19501051,19490382,19479660,19439805,19424205,19413965,19412172,19409379,19406877,19324319,19322600,19305409,19305408,19244476,19234087,19187913,19172259,19160088,19149796,19088443,19088442,19070294,19065538,19034806,19034039,19034038,19032804,19029296,19027781,19019189,19002712,18987434,18984536,18948620,18923542,18848812,18808722,18791070,18785031,18776039,18774102,18752142,18708743,18690032,18680509,18675227,18634834,18617000,18616963,18599551,18596570,18593567,18590565,18570888,18559421,18551196,18504605,18441445,18426444,18414380,18386051,18362022,18345496,18272172,18222980,18209470,18192214,18191158,18162604,18096051,18048364,18042732,17976575,17938585,17905336,19913121,20544339,20605793,20628086,18781376,19215240,19305991,19490267,19495974,19577877,19617705,19654002,19668779,19671703,19690348,19716085,19720020,19726881,19765650,19843919,19859662,19878047,19892732,19926013,19940115,19949665,19955179,19956635,20004623,20062061,20062063,20071715,20108749,20116193,20133899,20140874,20144677,20215044,20226272,20363888,20386770,20400777,20470906,20479154,20507645,20541041,20574821,20375276,20549940,20126398,20876384,21055387 1580503,1580502 3757 NM_000238,NM_172057,NM_172056,BC127673,BQ890248,BT007336,CR616390,DQ120124,DQ120125,DQ525913,FJ938021,U04270,AACC02000108,NG_008916,AB009071,AC006343,AC011234,AJ010538,AY380044,AY380045,AY380046,AY380047,AY380048,AY380049,AY380050,AY380051,AY380052,AY380053,AY380054,AY380055,AY380056,CH471173,CS114788,CS114790,CS124199,CS124201,AB044806,AF052728,AF363636,AJ512214,AJ609614,BC001914,BC004311,DQ784808 NP_000229,NP_742054,AAI27674,AAP36000,AAZ40507,AAZ40508,ABF71886,ACR24650,AAA62473,Q12809,Q15BH2,Q45QN4,Q45QN5,Q6U279,Q6U283,Q6U287,Q708S9,Q75MK8,Q75MK9,Q86U57,AAI67862,NP_742053,EAL24491,EAL24492,EAL24493,BAA37096,AAS07566,AAS07567,CAA09232,AAQ91589,AAQ91590,AAQ91591,AAQ91592,AAQ91593,AAQ91594,AAQ91595,AAQ91596,AAQ91597,AAQ91598,AAQ91599,AAQ91600,AAQ91601,EAW54071,EAW54072,EAW54073,EAW54074,EAW54075,CAJ13411,CAJ13412,CAJ18800,CAJ18801,BAB19682,AAC69709,AAL37559,CAD54447,CAE82156,AAH01914,AAH04311,ABQ01243 Hs.647099 ERG1|HERG|HERG1|Kv11.1|LQT2|SQT1 ERG-1|H-ERG|eag homolog|eag-related protein 1|ether-a-go-go-related gene potassium channel 1|ether-a-go-go-related potassium channel protein|ether-a-go-go-related protein 1|hERG-1|potassium voltage-gated channel subfamily H member 2|voltage-gated potassium channel subunit Kv11.1 protein-coding 733984 KCNH3 potassium voltage-gated channel, subfamily H (eag-related), member 3 70783,1580863 12477932,19923296,10455180,16382104,12890647,10574462,20638388 70783 23416 CH471111,NM_012284,AC020612,AB022696,AB033108,BC033141,BC144254,BC150602 NP_036416,EAW58073,EAW58074,BAA83590,BAA86596,AAH33141,AAI50603,Q8N500,Q9ULD8 Hs.64064 BEC1|ELK2|KIAA1282|Kv12.2 ELK channel 2|brain-specific eag-like channel 1|ether-a-go-go K(+) channel family member|ether-a-go-go-like potassium channel 2|potassium voltage-gated channel subfamily H member 3|voltage-gated potassium channel subunit Kv12.2 protein-coding 733889 KCNH4 potassium voltage-gated channel, subfamily H (eag-related), member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq] 70783,1580863 19913121,20628086,10455180,16382104,12890647 70783 23415 NM_012285,AC099811,CH471152,AB022698,AW084816 BAA83592,NP_036417,EAW60809,Q9UQ05,AAI40293 Hs.721566,Hs.304081 BEC2|ELK1|Kv12.3 ELK channel 1|brain-specific eag-like channel 2|ether-a-go-go K(+) channel family member|ether-a-go-go-like potassium channel 1|potassium voltage-gated channel subfamily H member 4|voltage-gated potassium channel subunit Kv12.3 protein-coding 731415 KCNH5 potassium voltage-gated channel, subfamily H (eag-related), member 5 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. This gene is not expressed in differentiating myoblasts. Alternative splicing results in three transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 19172261,18349282,16382104,16303743,15489334,14702039,12477932,12135768,11943152,10524757,9738473,18655026,19850283,20379614,20800603 27133 NM_172375,NM_139318,NM_172376,AL109985,AL132666,AL137191,AL355101,CH471061,AF418206,AF472412,AF493798,AK074484,AW628656,BC043409,BC073979,BU147537,U69185 NP_758963,NP_647479,NP_758964,EAW80818,EAW80819,AAM28435,AAM49565,AAM49574,BAC11016,AAH43409,AAH73979,Q86XI1,Q8NCM2 Hs.27043 EAG2|H-EAG2|Kv10.2 ether-a-go-go potassium channel 2|ether-a-go-go-related potassium channel 2|hEAG2|potassium channel HEAG2|potassium voltage-gated channel subfamily H member 5|voltage-gated potassium channel EAG2|voltage-gated potassium channel subunit Kv10.2 protein-coding 737542 KCNH6 potassium voltage-gated channel, subfamily H (eag-related), member 6 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq] 1580863 16382104,15489334,14702039,12634931,12477932,10414305,20144677,21048031 81033 NM_173092,NM_030779,AC113554,CH471109,AF311913,AK090969,AK091877,AK296498,AK298363,BC006334 NP_775115,NP_110406,EAW94308,EAW94309,EAW94310,AAG40871,BAC03559,BAC03764,BAG59132,BAG60605,AAH06334,Q9H252 Hs.591177 ERG2|HERG2|Kv11.2 ERG-2|eag related protein 2|eag-related gene member 2|eag-related protein 2|ether-a-go-go related gene potassium channel 2|ether-a-go-go-related gene potassium channel 2|ether-a-go-go-related protein 2|hERG-2|potassium voltage-gated channel subfamily H member 6|voltage-gated potassium channel subunit Kv11.2 protein-coding 734396 KCNH7 potassium voltage-gated channel, subfamily H (eag-related), member 7 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq] 1580863 20953190,17474147,19156166,18285833,16382104,15961404,12634931,12477932,10414305,19913121,20628086,20379614 90134 DR002425,NM_033272,NM_173162,AC007740,AC010876,AC011900,AC093082,AC104822,AC139719,CH471058,AF032897,AK098545,BC035815 NP_150375,NP_775185,AAX93153,AAX93139,AAY24106,EAX11346,AAD01946,AAH35815,Q9NS40 Hs.657413 ERG3|HERG3|Kv11.3|MGC45986 ERG-3|eag related protein 3|eag-related protein 3|ether-a-go-go related gene potassium channel 3|ether-a-go-go-related gene potassium channel 3|ether-a-go-go-related protein 3|potassium channel erg3|potassium channel subunit HERG-3|potassium voltage-gated channel subfamily H member 7|voltage-gated potassium channel subunit Kv11.3 protein-coding 1352658 KCNH8 potassium voltage-gated channel, subfamily H (eag-related), member 8 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq] 1580863 17903296,16382104,12890647,12477932,11897058,19913121,20628086 131096 AC015542,AC061958,AC099538,AC116098,AC135452,AC138315,CH471055,AB209053,AK294417,AK294759,AK295633,AK309034,AY053503,BC031226,NM_144633 Q96L42,AAI52894,NP_653234,EAW64296,EAW64297,BAD92290,BAH11759,BAH11873,BAH12134,AAL15429 Hs.475656 ELK|ELK1|Kv12.1|elk3 ELK channel 3|ether-a-go-go-like potassium channel 1|ether-a-go-go-like potassium channel 3|hElk1|potassium voltage-gated channel subfamily H member 8|voltage-gated potassium channel subunit Kv12.1 protein-coding 732298 KCNIP1 Kv channel interacting protein 1 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Alternative splicing results in multiple transcript variant encoding different isoforms. [provided by RefSeq] 1580863 15358149,10676964,19010793,18393943,17057713,16112838,15489334,15184042,14980207,14572458,12829703,12477932,12136098,11423117,11287421,19913121,20628086,19550036 30820 NM_001034837,NM_014592,NG_011538,AC008619,AC008719,AC027306,AC027312,AC034199,AC113432,AC134820,AJ324960,CH471062,AF199597,AK074390,AK301775,AY170821,AY780424,BC035032,BC050375,CR602258,CR602352,DQ148476,DQ148477,NM_001034838,DQ148479,DQ148478 NP_001030010,NP_001030009,NP_055407,EAW61470,EAW61471,AAF33682,BAH13550,AAN77491,AAV51968,AAH50375,AAZ77793,AAZ77794,AAZ77795,AAZ77796,Q3YAD0,Q3YAD1,Q3YAD2,Q3YAD3,Q9NZI2 Hs.484111 KCHIP1|MGC95|VABP A-type potassium channel modulatory protein 1|Kv channel-interacting protein 1|kv channel-interacting protein 1|potassium channel interacting protein 1|potassium channel-interacting protein 1|vesicle APC-binding protein protein-coding 734096 KCNIP2 Kv channel interacting protein 2 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq] 737786 11287421,15358149,10676964,18957440,18501111,18393943,16951992,16820361,16381901,16177826,16112838,15578212,15498806,15489336,15489334,15356203,14980201,14702039,14623880,12928444,12829703,12477932,12297301,12135940,11747815,11684073,11351020,11263977,11230166,11076863,17353931,15184042,20498229,20649599,20354865,16385451,18585502,19927631,20709747 737786 30819 AK315042,AL136722,AY026328,AY302141,BC034685,BG911444,CR599605,CR610606,DQ148480,DQ148481,DQ148482,DQ148483,DQ148484,DQ862463,AK314536,NM_173195,NM_173192,NM_014591,NM_173191,NM_173194,NM_173197,AC010789,AY026329,AY026330,AY026331,NM_173193,CH471066,AB044584,AB044585,AF199598,AF295076,AF295530,AF347114,AF367018,AF367019,AF367020,AF367021,AJ276317,AK027347,AK055089,AK094668,AK125382,AK130689,AK295324,AK301433,AK309368 BAG37523,CAB66656,AAK07674,AAP57633,AAH34685,AAZ77797,AAZ77798,AAZ77799,AAZ77800,AAZ77801,ABI51986,Q09MK0,Q3YAC5,Q3YAC6,Q3YAC7,Q3YAC8,Q3YAC9,Q9NS61,CAL37694,NP_775285,NP_775287,NP_775284,NP_055406,NP_775283,NP_775286,NP_775289,AAK21972,EAW49730,EAW49731,EAW49732,EAW49733,EAW49734,EAW49735,EAW49736,EAW49737,EAW49738,EAW49739,EAW49740,BAA96740,BAA96741,AAF33683,AAG02120,AAG02121,AAK70356,AAK53707,AAK53708,AAK53709,AAK53710,CAB77054,BAB55052,BAG51465,BAG52907,BAG58301,BAG62961 Hs.97044 DKFZp566L1246|KCHIP2|MGC17241 A-type potassium channel modulatory protein 2|Kv channel-interacting protein 2|OTTHUMP00000020334|OTTHUMP00000020335|cardiac voltage gated potassium channel modulatory subunit|cardiac voltage-gated potassium channel modulatory subunit|kv channel-interacting protein 2|potassium channel interacting protein 2|potassium channel-interacting protein 2 protein-coding 735835 KCNIP3 Kv channel interacting protein 3, calsenilin This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 15086516,14720210,14702039,12837631,12829703,12648752,12477932,12451113,12217801,12207970,12198160,12006572,11988022,11792319,11535596,11278424,11259376,11094064,11072133,10676964,9819380,9771752,10854253,15184042,10078534,10900016,18957440,18664571,18628663,18507845,18393943,18269347,17962406,17102134,16840549,16306395,16189514,16177826,16112838,15815621,15770150,15489334,19299442,19730683 30818 NM_013434,NM_001034914,AC009238,CH471219,AF120102,AF199599,AF367022,AJ131730,AK095539,AK315437,BC012850,BI755669,BT020075,BX491997,DQ148485,DQ148486 NP_038462,NP_001030086,AAY14752,EAX10723,EAX10724,EAX10725,EAX10726,EAX10727,AAD20350,AAF33684,AAK53711,CAB56835,CAB56836,BAG37825,AAH12850,AAV38878,AAZ77802,AAZ77803,Q3YAC3,Q3YAC4,Q9Y2W7,ABM83004,ABM86197,ABM86242 Hs.437376 CSEN|DREAM|KCHIP3|MGC18289 A-type potassium channel modulatory protein 3|DRE-antagonist modulator|calsenilin|calsenilin, presenilin binding protein, ef hand transcription factor|calsenilin, presenilin-binding protein, EF hand transcription factor|kv channel-interacting protein 3|potassium channel interacting protein 3 protein-coding 733209 KCNIP4 Kv channel interacting protein 4 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 17353931,19240061,18957440,18519826,18393943,18269347,17981209,16951992,16112838,15815621,15489334,12477932,11847232,11805342,15184042,19910543,20045463,20379614,20670164,20877300 80333 NM_147181,BI596848,BX648990,CR610239,DQ148487,DQ148488,DQ148489,DQ148490,DQ148491,DQ148492,NM_025221,NM_147182,NM_001035003,NM_001035004,NM_147183,AC096576,AC097505,AC098597,AC104065,AC107462,AC108147,AC109360,AC109636,AC110296,AC110612,AC113606,AC116641,AF453244,CH471069,AF302044,AF305072,AF367023,AF367024,AF453246,AK289661,AK289922,AK290998,AK294188,AY029176,AY118170,BC032520,AK314058 AAH32520,AAZ77804,AAZ77805,AAZ77806,AAZ77807,AAZ77808,AAZ77809,Q3YAB7,Q3YAB8,Q3YAB9,Q3YAC0,Q3YAC1,Q3YAC2,Q4W5B5,Q6PIL6,Q8TDF2,ABZ92064,NP_079497,NP_671710,NP_671711,NP_001030175,NP_001030176,NP_671712,AAY40911,AAY40952,AAL86767,EAW92797,EAW92798,AAG36974,AAG36977,AAK53712,AAK53713,AAL86769,BAF82350,BAF82611,BAF83687,BAG57504,AAK31594,AAM81578 Hs.655705 CALP|KCHIP4|MGC44947 Kv channel-interacting protein 4|OTTHUMP00000218116|OTTHUMP00000219284|a-type potassium channel modulatory protein 4|calsenilin-like protein|potassium channel interacting protein 4|potassium channel-interacting protein 4 protein-coding 732016 KCNJ1 potassium inwardly-rectifying channel, subfamily J, member 1 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 729173,1580799,1580863 9015377,19349416,19272129,19244242,19170254,18755144,18550644,18443236,18391953,18211905,17401586,17380208,16428287,16382105,15987778,15895241,15489334,7635463,10479680,7680431,14604981,12684516,12589089,12477932,12381810,12221079,9727001,9099852,9002665,8841184,8621594,8190102,7929082,19913121,20628086,20219833,16543716,19096086,19706464,19710010,20379614,20424473 729173,1580799 3758 NM_153764,NM_153766,NM_153765,NM_153767,NM_000220,NG_009379,AP000920,AP001122,CH471065,U65406,AK290797,AK308032,AK308033,AK314267,BC063109,BC074752,BC136360,BC136361,BE466312,S78737,U03884,U12541,U12542,U12543,U12544,U12545 NP_722448,NP_722450,NP_722449,NP_722451,NP_000211,EAW67721,EAW67722,EAW67723,EAW67724,EAW67725,AAC51220,AAC51221,AAC51222,BAF83486,AAH74752,AAI36361,AAI36362,AAB35012,AAA20594,AAA61712,AAA61713,AAA61714,AAA61715,AAA61716,P48048 Hs.527830 KIR1.1|ROMK|ROMK1 ATP-regulated potassium channel ROM-K|ATP-sensitive inward rectifier potassium channel 1|OTTHUMP00000045938|inward rectifier K(+) channel Kir1.1|inwardly rectifying K+ channel|potassium channel, inwardly rectifying subfamily J member 1 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 731912 KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10 This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq] 1580863,2326035 8995301,19420365,19289823,18391953,18191638,17727731,17122384,16710414,16382105,15911117,15725393,15489334,15120748,12923169,12477932,12456399,12401729,11927671,10659995,10479680,9647694,9367690,9148889,20621367,20651251,16344560,19426954,19523148,19864112,8889548,17185339,21088294,20933057,21106816 2326035 3766 NM_002241,AF344826,AF482710,AL121987,AL513302,CH471121,U73192,AK312383,BC034036,BC037840,BC131627,BE466069,U52155,U73193,BM675618,DA958759,NG_016411 NP_002232,AAK27517,AAL89708,CAH71493,EAW52748,EAW52749,EAW52750,AAC50923,BAG35301,AAH34036,AAI31628,AAB07046,AAC50924,P78508,Q547K1,Q9BXC5,ABM83318,ABM86533 Hs.408960 BIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1|SESAME ATP-dependent inwardly rectifying potassium channel Kir4.1|ATP-sensitive inward rectifier potassium channel 10|glial ATP-dependent inwardly rectifying potassium channel KIR4.1|inward rectifier K(+) channel Kir1.2|inward rectifier K+ channel KIR1.2|potassium channel, inwardly rectifying subfamily J member 10 2314798,2314801 GLUCO117_H,GLUCO120_H protein-coding 69098 KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). [provided by RefSeq] 2313628,2311063,2311536,2301911,2311533,2311534,2311535,2313610,2311538,1625277,1580863,1625256,1625279,1598644,1598645 20431170,20595581,18598350,18597214,18596924,18591388,18566517,18559200,18556340,18544102,18516622,18504616,18498634,18426861,18372903,18335204,18290324,18281290,18243136,18221420,18212765,18162508,18162506,18159846,17994213,17978456,17977958,17965318,17965292,17923772,17922473,17919178,17901525,17898091,17894829,17890419,17855752,17825556,17823772,17720745,17668386,17659066,17652641,17635943,17601994,17570749,17535866,17475937,17463249,17463248,17463246,17446535,17431820,17395632,17380317,17378627,17342155,17327377,17316607,17296510,17259403,17259376,17257281,17213273,17192490,17192350,17137217,17065345,17047922,17021801,17020404,16873704,16733889,16732049,16731860,16731833,16670688,16636122,16609879,16595597,16455067,16429405,16416420,16382105,16367885,16357843,16339180,16332676,17976307,16320083,16142506,16087682,15998776,15983208,15962003,15956217,15930170,15855351,15842514,15838686,15807877,15797964,15784703,15760904,15735229,15718250,15580558,15579791,15579781,15562009,15504982,15489334,15448107,15448106,15292329,15111507,15004210,14988278,14871556,14681552,14656703,14642445,14551916,14514649,12934053,12860923,12819904,12540638,12540637,12524280,12477932,12388475,12364426,12356945,12351459,12213829,12199344,12196481,11825905,11424233,11318841,10391210,10338089,10204114,9703328,9144288,9032109,8897013,8549873,7847376,7502040,12941953,11136227,12145195,18752747,20036918,20540435,8923010,15115830,18073297,15583126,19602701,19592620,19502414,19498446,19491206,19481058,19475716,19380854,19368707,19357197,19336475,19324937,19279076,19264985,19258437,19247372,19225753,19214942,19139842,19139106,19082521,19056611,19033397,19020324,19020323,19002430,18998097,18984664,18972257,18958766,18796522,18767144,18758683,18719881,18710329,18664331,18662362,19913121,19921246,20550665,20571754,20597906,20616309,20628086,20682687,20802253,10093054,10559219,16902404,18391953,19254908,19345438,19401414,19435956,19578796,19587354,19685080,19692135,19720844,19766903,19794065,19808892,19862325,19876004,20043145,20054294,20075150,20079163,20161779,20164212,20203524,20215779,20361036,20384434,20424228,20437825,20490451,20503258,20540670,20712903,20816152,20863361,20879858,20923526,20929593 2313628,2311536,2301911,2311533,2311534,2311535,2313610,2311538,1625277,1625256,1625279,1598644,1598645 3767 NM_000525,NG_012446,AC124798,CH471064,D50582,AI377272,AK314943,BC040617,BC064497,BC112358,BE019467,AK301550,GU170814,NM_001166290 NP_000516,EAW68438,BAA09131,BAG37449,AAH40617,AAH64497,AAI12359,Q14654,Q8IW96,ACZ56124,BAG63046,NP_001159762 Hs.248141 BIR|HHF2|IKATP|KIR6.2|MGC133230|PHHI|TNDM3 ATP-sensitive inward rectifier potassium channel 11|beta-cell inward rectifier subunit|inward rectifier K(+) channel Kir6.2|inwardly rectifying potassium channel KIR6.2|potassium channel inwardly rectifing subfamily J member 11|potassium channel, inwardly rectifying subfamily J member 11 protein-coding 733298 KCNJ12 potassium inwardly-rectifying channel, subfamily J, member 12 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1581471,1580863,1580800 7859381,8647284,19016473,18391953,16382105,16373386,16344560,16258766,15958527,15489334,15024025,14960569,14702039,12794312,12598232,12477932,12417321,12034888,12032359,11181181,9533018,9430667,9027495,5024025,17185339,20676672,20921230 1581471,1580800 3768 NM_021012,AB074970,AB181299,AC068418,CH471221,U53143,AB182123,AF005214,BC027982,BM799671,DA115102,L36069 NP_066292,BAC02718,BAD22701,EAW49109,AAC50615,BAD23901,AAC01951,AAH27982,AAA65122,Q14500,Q6L5N3 Hs.200629 FLJ14167|IRK2|KCNJ18|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x ATP-sensitive inward rectifier potassium channel 12|IRK-2|inward rectifier K(+) channel Kir2.2|inward rectifier K(+) channel Kir2.2v|inward rectifier K(+) channel Kir2.6|potassium channel, inwardly rectifying subfamily J member 12|potassium channel, inwardly rectifying subfamily J member 18|potassium inwardly-rectifying channel, subfamily J, inhibitor 1 protein-coding 734216 KCNJ13 potassium inwardly-rectifying channel, subfamily J, member 13 1580863 9738472,19240061,18976636,18391953,18179896,18094146,18035352,16382105,16344560,15557460,15489334,12477932,10455019,9878260,9786970,9620703 3769 NM_002242,AC064852,AF082182,CH471063,AF061118,AJ006128,AJ007557,AK314019,AY758240,AY758241,BC037290,CB410257,DA278958,DB547266,DB173405,DN993097,NG_016742,NM_001172416,NM_001172417 NP_002233,AAX93190,AAD08673,EAW71019,AAC15769,CAA06878,CAA07552,BAG36730,AAX08098,AAX08099,AAH37290,O60928,Q53SA1,ABM82650,ABM85827,NP_001165887,NP_001165888 Hs.467338 KIR1.4|KIR7.1|MGC33328|SVD OTTHUMP00000203613|OTTHUMP00000203614|OTTHUMP00000203615|OTTHUMP00000203616|inward rectifier K(+) channel Kir7.1|inward rectifier potassium channel 13 protein-coding 735432 KCNJ14 potassium inwardly-rectifying channel, subfamily J, member 14 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 633149,1581471,1580863 11853319,10942728,10723734,8889548,9592090,18391953,17347781,16382105,15958527,15489334,12477932,20424473 633149,1581471 3770 NM_013348,NM_170720,AC008403,AF181988,CH471177,AF081466,BC032682,BC035918,BC042033,BM710116 NP_037480,NP_733838,AAF97619,EAW52348,AAD51376,AAH35918,Q9UNX9 Hs.590945,Hs.644912 IRK4|KIAA1942|KIR2.4|MGC46111 ATP-sensitive inward rectifier potassium channel 14|IRK-4|inward rectifier K(+) channel Kir2.4|inwardly rectifying potassium channel KIR2.4|potassium channel, inwardly rectifying subfamily J member 14 protein-coding 731050 KCNJ15 potassium inwardly-rectifying channel, subfamily J, member 15 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 8995301,18029348,19420109,18391953,17122384,16382105,15489334,15068243,12477932,11927671,11804844,11306656,10830953,10479680,9882736,9647694,9299242,9037601,20085713,17185339 3772 NM_002243,NM_170736,NM_170737,AJ012369,AP001422,AP001434,AP001438,CH471079,AI344546,AK292812,BC013327,BI832561,D87291,U73191,Y10745,Y13895,Y13896 NP_002234,NP_733932,NP_733933,EAX09683,EAX09684,EAX09685,BAF85501,AAH13327,BAA13326,AAC50922,CAA71734,Q99712,ABM87860 Hs.411299 IRKK|KIR1.3|KIR4.2|MGC13584 ATP-sensitive inward rectifier potassium channel 15|OTTHUMP00000115741|OTTHUMP00000115742|OTTHUMP00000115743|OTTHUMP00000115744|OTTHUMP00000115745|OTTHUMP00000115746|OTTHUMP00000115747|inward rectifier K(+) channel Kir1.3|inward rectifier K(+) channel Kir4.2|inward rectifier K+ channel KIR4.2|potassium channel, inwardly rectifying subfamily J member 15 protein-coding 1343172 KCNJ16 potassium inwardly-rectifying channel, subfamily J, member 16 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may be involved in the regulation of fluid and pH balance. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19240061,19234473,18391953,16382105,12923169,12477932,12456399,11988170,11306656,11240146,11060447,9882736,9373149,8125298,20379614,17185339 3773 NM_018658,NM_170741,NM_170742,AC005208,AF153814,CH471099,AF153815,AF153816,AF153817,AF179353,AK225944,AK290799,BC030961,BC033038 NP_061128,NP_733937,NP_733938,AAF73244,EAW89090,EAW89091,AAF73238,AAF73239,AAF73240,AAG09401,BAF83488,AAH33038,Q8N538,Q9NPI9,ABM83397 Hs.463985 BIR9|KIR5.1|MGC33717 inward rectifier K(+) channel Kir5.1|inward rectifier K+ channel KIR5.1|inward rectifier potassium channel 16|potassium channel, inwardly rectifying subfamily J member 16 protein-coding 4144939 KCNJ18 potassium inwardly-rectifying channel, subfamily J, member 18 Inwardly rectifying potassium channels, such as KCNJ18, maintain resting membrane potential in excitable cells and aid in repolarization of cells following depolarization. KCNJ18 is primarily expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone (Ryan et al., 2010 [PubMed 20074522]).[supplied by OMIM] 20074522 100134444 AC233702,FJ434338,NM_001194958 ACJ64506,NP_001181887 Hs.200629 KIR2.6|TTPP2 inward rectifier potassium channel 18|potassium inwardly-rectifying channel, subfamily J, member 18|thyrotoxic periodic paralysis susceptibility ion channel protein-coding 1352992 KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq] 1581471,1580802 11287423,12923176,7696590,19305409,19234473,19002489,18854645,18690034,18391953,18216177,18182162,18178799,17619200,17582433,17551083,17341397,17324964,17211524,17210839,16895905,16834334,16831831,16777940,16637659,16571646,16541386,16533896,16419128,16407206,16382105,16373386,16258766,15958527,15922306,15831539,15795311,15761194,15618275,15465033,15304517,15084602,15024025,14522976,14500755,12598232,12459783,12163457,12148092,12045162,12032359,11809752,11688996,11371347,11287009,11240146,11181181,10627592,10559219,10479680,9533862,9490857,8821791,7840300,7680768,7590287,19913121,20628086,20634891,19608980,19841300,19843922,20195514,20921230,17185339,20676672 1581471,1580802 3759 NM_000891,NG_008798,AC005242,AF153818,AF153819,CH471099,CS173015,AF011904,AF021139,AF153820,U12507,U16861,U22413,U24055 NP_000882,AAF73242,EAW89092,CAJ33689,AAC39555,AAB88797,AAF73241,AAC50072,AAA91781,AAA64282,AAB50277,P63252,AAI52812 Hs.1547 HHBIRK1|HHIRK1|IRK1|KIR2.1|LQT7|SQT3 IRK-1|cardiac inward rectifier potassium channel|hIRK1|inward rectifier K(+) channel Kir2.1|inward rectifier K+ channel KIR2.1|inward rectifier potassium channel 2|potassium channel, inwardly rectifying subfamily J member 2 protein-coding 733789 KCNJ3 potassium inwardly-rectifying channel, subfamily J, member 3 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq] 1580863 12297500,19151997,19135528,18498071,18391953,16382105,16109170,15489334,9765280,9119365,9108307,9023358,8929423,8868049,8088798,17185339,8804710,15142872,12743112,12477932,12458027,12034888,11741896,10889209,9891030,20512921,20110696,20468064 3760 NM_002239,AC061961,AC093633,AC107060,CH471058,AK293824,AK293924,AW949825,BC022495,U50964,GU068048,GU074515 NP_002230,AAX93197,EAX11461,BAG57228,BAG57305,AAH22495,AAB42176,P48549,Q53R59,ABM83289,ABM86498,ADB11081,ADB11083 Hs.591606 GIRK1|KGA|KIR3.1 G protein-activated inward rectifier potassium channel 1|GIRK-1|inward rectifier K(+) channel Kir3.1|inward rectifier K+ channel KIR3.1|potassium channel, inwardly rectifying subfamily J member 3 2314777,2314985 GLUCO106_H,INSUL32_H protein-coding 733316 KCNJ4 potassium inwardly-rectifying channel, subfamily J, member 4 Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1581471,1580863 11742811,11713246,11306688,11181181,10627592,10591208,10479680,10206975,8943291,8893032,8034048,7607694,14960569,15024025,8016146,8051145,18503768,18453743,18391953,18180291,16382105,16373386,16258766,15958527,15489334,15461802,12477932,12032359,11997254,19635485,20424473,16855024,17185339 1581471 3761 NM_004981,CH471095,Z97056,BC032562,BC039618,BC113506,BC113508,BM475496,CR456507,S72503,U07364,U24056,NM_152868 Q58F07,CAK54537,CAK54836,AAA66076,P48050,NP_690607,NP_004972,EAW60235,EAW60236,CAB09790,AAH32562,AAI13507,AAI13509,CAG30393,AAC60632,AAA19962 Hs.32505 HIR|HIRK2|HRK1|IRK-3|IRK3|Kir2.3|MGC142066|MGC142068 hippocampal inward rectifier potassium channel|inward rectifier K(+) channel Kir2.3|inward rectifier K+ channel Kir2.3|inward rectifier potassium channel 4|potassium channel, inwardly rectifying subfamily J member 4 protein-coding 1349904 KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq] 1580863,1581701 8834003,18391953,18289755,18239147,17967416,16382105,16109170,15694835,15489334,15142872,12477932,12297500,11879649,11741896,10659995,9765280,9642257,9245502,9891030,9169438,9108307,8868049,8558261,7590741,20560207,17185339,19135528,19208499,19805912,20110696,17207965 1581701 3762 NM_000890,AP000920,CH471065,AK312837,BC069386,BC069482,BC069499,BC069571,BC074838,BC074839,BC096834,D50134,L47208,U39195,X83582,NG_023406 NP_000881,EAW67726,EAW67727,BAG35691,AAH69386,AAH69482,AAH69499,AAH69571,AAH74838,AAH74839,AAH96834,BAA08814,AAB07269,AAB53093,CAA58565,P48544,Q4QRJ2,ADQ31914 Hs.632109 CIR|GIRK4|KATP1|KIR3.4|LQT13 G protein-activated inward rectifier potassium channel 4|G protein-activated inward rectifier potassium channel 4 (GIRK4) (Potassium channel, inwardly rectifying, subfamily J, member 5) (Inward rectifier K+ channel Kir3.4) (Heart KATP channel) (KATP-1) (Cardiac inward rectifier) (CIR)...|GIRK-4|IRK-4|KATP-1|cardiac ATP-sensitive potassium channel|cardiac inward rectifier|heart KATP channel|inward rectifier K(+) channel Kir3.4|inward rectifier K+ channel KIR3.4|potassium channel, inwardly rectifying subfamily J member 5 protein-coding 1313992 KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq] 1580863 7550338,7796919,16780588,18391953,18303085,17135278,16382105,16109170,15772902,15489334,15142872,15068243,14724209,12743112,12477932,12458027,12297500,12034888,10956667,10830953,10659995,10619846,10562331,9503011,9108307,9037601,9023358,8929423,7926018,7729621,7592809,20943350,15218035,17185339,20655490,19135528,19567891,19756153,20220551,20379614,20424473 3763 AP001407,NM_002240,AP001408,AP001411,AP001416,AP001424,AP001427,AP001430,AP001433,AP001436,CH471079,S78685,AJ001894,AK313997,BC101547,BF110130,D87327,U24660 NP_002231,EAX09692,AAB34738,BAG36709,AAI01548,BAA13331,AAC50258,P48051 Hs.658533 BIR1|GIRK-2|GIRK2|KATP-2|KATP2|KCNJ7|KIR3.2|MGC126596|hiGIRK2 G protein-activated inward rectifier potassium channel 2|inward rectifier K(+) channel Kir3.2|inward rectifier potassium channel KIR3.2|potassium channel, inwardly rectifying subfamily J member 6 protein-coding 731904 KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. [provided by RefSeq] 1581700,1580863,1581599,1581698,1581699,1581697,1598645,1598652,729109 12217870,7890693,19139106,18996111,18663158,18391953,17081983,16964409,16820413,16382105,15821440,15489334,12964027,12934053,12738227,12477932,12356945,11984590,11956191,11825905,11160857,11136227,11007308,10559219,10516647,9573340,9434770,8595887,20558321,19952277,19959479 1581700,1581599,1581698,1581699,1581697,1598645,1598652,729109 3764 NM_004982,AC010185,CH471094,D50315,AK291821,AL546327,BC000544,BQ009215,CR593376,CR605484,D50312 NP_004973,EAW96450,EAW96451,BAA08852,BAF84510,AAH00544,BAA08851,Q15842,ABM82839,ABM86023 Hs.102308,Hs.619408 KIR6.1|uKATP-1 ATP-sensitive inward rectifier potassium channel 8|inward rectifier K(+) channel Kir6.1|inwardly rectifying potassium channel KIR6.1|potassium channel, inwardly rectifying subfamily J member 8 protein-coding 1343442 KCNJ9 potassium inwardly-rectifying channel, subfamily J, member 9 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq] 1580863 18391953,17727731,16710414,16382105,16109170,15911117,12297500,11350189,10956667,10913335,10659995,10341034,8575783,20610389,19995671,17185339 3765 NM_004983,AF193615,AL121987,CH471121,U52152 NP_004974,AAF89098,CAI15268,EAW52747,AAB07043,Q92806,AAI67777 Hs.66726 GIRK3|KIR3.3 G protein-activated inward rectifier potassium channel 3|G protein-coupled inward rectifier potassium channel|GIRK-3|inward rectifier K(+) channel Kir3.3|inwardly rectifier K+ channel KIR3.3|potassium channel, inwardly rectifying subfamily J member 9 2314798,2314801,2315765,2315816,2316338 GLUCO117_H,GLUCO120_H,GLUCO149_H,GLUCO177_H,GLUCO223_H protein-coding 731790 KCNK1 potassium channel, subfamily K, member 1 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq] 1580863,2316516 11165377,11053038,9832487,9462864,9362344,8978667,8661042,8605869,19571146,16382106,15820677,15489334,14702039,12855359,12477932,11256078,19948975,19959478 2316516 3775 NM_002245,AL356357,CH471098,AK090902,AK314016,BC018051,BQ022191,CR590911,U33632,U76996,U90065 NP_002236,CAI21792,CAI21793,CAI21794,EAW69989,EAW69990,BAG36727,AAH18051,AAB01688,AAB97878,AAB51147,O00180,Q5T5E7,ABM83309,ABM86521 Hs.208544 DPK|HOHO|K2P1|K2p1.1|KCNO1|TWIK-1|TWIK1 inward rectifying potassium channel protein TWIK-1|potassium channel KCNO1|potassium channel subfamily K member 1|potassium inwardly-rectifying channel, subfamily K, member 1 protein-coding 732934 KCNK10 potassium channel, subfamily K, member 10 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 10880510,18516069,17689202,16382106,12477932,11897838,11256078,10747911,9110174,8619474 54207 NM_021161,NM_138317,NM_138318,AL049834,AL133279,CH471061,AF279890,AF385399,AF385400,AI693366,AK125389,AK290518,AK313499,AK315263,BC075021,BC075022,EU978938,EU978939,EU978940,EU978941,U79244 NP_066984,NP_612190,NP_612191,EAW81373,EAW81374,EAW81375,AAG15191,AAL95705,AAL95706,BAF83207,BAG36281,BAG37680,AAH75021,AAH75022,ACH86097,ACH86098,ACH86099,ACH86100,P57789,Q6B014 Hs.560255 FLJ43399|K2p10.1|TREK-2|TREK2 2P domain potassium channel TREK2|TREK-2 K(+) channel subunit|TWIK-related K+ channel 2|outward rectifying potassium channel protein TREK-2|potassium channel TREK-2|potassium channel subfamily K member 10|potassium channel trek-2 protein-coding 68984 KCNK12 potassium channel, subfamily K, member 12 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq] 67928,1580863 18676988,18209473,17081983,15489334,12477932,11263999,11256078,11060316,19890347 67928 56660 NM_022055,AC138655,CH471053,AF287302,BC047749 NP_071338,EAX00212,AAG32313,AAH47749,Q9HB15 Hs.591586 THIK-2|THIK2 potassium channel subfamily K member 12|tandem pore domain halothane-inhibited potassium channel 2|tandem pore domain potassium channel THIK-2 protein-coding 68985 KCNK13 potassium channel, subfamily K, member 13 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming domains. The product of this gene is an open channel that can be stimulated by arachidonic acid. [provided by RefSeq] 67928,1580863 18516069,18209473,16683720,16382106,15489334,12477932,11256078,11060316,20400778,20379614 67928 56659 NM_022054,AL137128,AL355074,CH471061,AF287303,BC012779,EU978942 NP_071337,EAW81417,AAG32314,AAH12779,ACH86101,Q9HB14,ABM84033,ABM87379 Hs.510191 K2p13.1|THIK-1|THIK1 K2P13.1 potassium channel|potassium channel subfamily K member 13|tandem pore domain halothane-inhibited potassium channel 1|tandem pore domain potassium channel THIK-1 protein-coding 1345243 KCNK15 potassium channel, subfamily K, member 15 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq] 1580863 11409881,11749039,17081983,16382106,12477932,11780052,11680614,11431495,12433946 60598 NM_022358,AF294352,AL118522,CH471077,AF257081,AF294350,AF294351,AF336342,BC093874,BC143282 NP_071753,AAK97093,CAC14068,EAW75900,AAG33127,AAK97091,AAK97092,AAK37518,AAH93874,AAI43283,Q9H427 Hs.528664 K2p15.1|KCNK11|KCNK14|KIAA0237|KT3.3|TASK-5|TASK5|dJ781B1.1 TWIK-related acid-sensitive K(+) channel 5|acid-sensitive potassium channel protein TASK-5|potassium channel subfamily K member 15|potassium channel, subfamily K, member 14|two pore K(+) channel KT3.3|two pore potassium channel KT3.3 protein-coding 1319410 KCNK16 potassium channel, subfamily K, member 16 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 11263999,12724142,18516069,16382106,14574404,12477932,11256078 83795 NM_001135107,NM_032115,NM_001135106,AL136087,CH471081,AF358909,AY253145,AY253146,AY253147,BC111860,BP387644,NM_001135105,CA843225,EU978943,FB764117 NP_001128577,NP_001128579,NP_115491,NP_001128578,CAI19537,EAX03982,EAX03983,EAX03984,EAX03985,AAK49532,AAP82866,AAP82867,AAP82868,AAI11861,ACH86102,Q96T55,CAV30657 Hs.287765 K2p16.1|MGC133123|TALK-1|TALK1 2P domain potassium channel Talk-1|OTTHUMP00000223328|TWIK-related alkaline pH-activated K(+) channel 1|pancreatic potassium channel Talk-1|potassium channel subfamily K member 16 protein-coding 1349439 KCNK17 potassium channel, subfamily K, member 17 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11248242,18516069,16382106,14574404,12975309,12477932,11263999,15489334,15342556,19647252,19910543 89822 NM_031460,NM_001135111,AL136087,CH471081,AF339912,AF358910,AK310582,AK315273,AY358853,BC025726,BP317866,CR613884,CR622971,CR626629,EU978944 NP_113648,NP_001128583,CAI19536,EAX03981,AAK28551,AAK49533,BAG37686,AAQ89212,AAH25726,ACH86103,Q96T54,ABM82638,ABM85815 Hs.162282 K2p17.1|TALK-2|TALK2|TASK-4|TASK4 2P domain potassium channel Talk-2|TWIK-related acid-sensitive K(+) channel 4|TWIK-related alkaline pH-activated K(+) channel 2|acid-sensitive potassium channel protein TASK-4|potassium channel subfamily K member 17 protein-coding 1346775 KCNK18 potassium channel, subfamily K, member 18 1580863 18506476,18397886,16382106,15761153,15123670,14981085,12754259,20871611,16385451,20006580,20379614,16569637,20215114 338567 NM_181840,AL731557,AB087138,NG_028085 NP_862823,CAI14827,BAC78527,Q7Z418,AAI48338,AAI52980 Hs.449650 K2p18.1|MGR13|TRESK|TRESK-2|TRESK2|TRIK TWIK related spinal cord K+ channel|TWIK-related individual K+ channel|TWIK-related individual potassium channel|TWIK-related spinal cord K+ channel|TWIK-related spinal cord potassium channel|potassium channel subfamily K member 18 protein-coding 1354126 KCNK2 potassium channel, subfamily K, member 2 This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19130888,18854423,18676988,18579077,18579071,18519826,18474599,18288090,17375039,17035301,16382106,16344560,16250016,16006563,15883010,15685212,15203218,14522822,12878157,12477932,12368289,11319556,11319549,11256078,10784345,10321245,9721223,9003761,19913121,20628086,19621370,19741570,19837167,19948975,20083228,20362547,20379614,20811500 3776 DR001358,EF165334,EF165335,NM_001017425,NM_014217,AC092804,AC099675,AL583830,CH471100,AF004711,AF129399,AF171068,AK123409,AK291483,AK294780,AK315249,AU280191,AY552980,AY552981,BC069462,BC101693,BC101695,BC143586,CD625291,CD625297,CD625301,DA475072,NM_001017424 ABM47413,ABM47414,O95069,Q5DP47,Q6ZW95,NP_001017424,NP_001017425,NP_055032,EAW93347,EAW93348,EAW93349,AAD01203,AAD47569,AAF89743,BAC85609,BAF84172,BAG57907,BAG37671,AAT49015,AAT49016,AAH69462,AAI01694,AAI01696,AAI43587 Hs.497745 K2p2.1|MGC126742|MGC126744|TPKC1|TREK|TREK-1|TREK1|hTREK-1c|hTREK-1e K2P2.1 potassium channel|OTTHUMP00000216605|OTTHUMP00000216609|TREK-1 K(+) channel subunit|TWIK-related potassium channel 1|outward rectifying potassium channel protein TREK-1|potassium channel subfamily K member 2|potassium inwardly-rectifying channel, subfamily K, member 2|tandem-pore-domain potassium channel TREK-1|two pore domain potassium channel TREK-1|two pore potassium channel TPKC1|two-pore potassium channel 1 protein-coding 1345497 KCNK3 potassium channel, subfamily K, member 3 This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq] 1580863,2316516,2316522 10575216,9312005,18824070,18678320,18375952,17945357,16574908,16382106,15695101,15197476,15099524,12837685,12437930,12198146,12003807,11907168,11886861,11803450,11680614,11256078,10748056,10321245,9721223,15099514,20049674,12433946,12477932,16420525,19188660,19657056 2316516,2316522 3777 NM_002246,AC015977,CH471053,AF006823,AF065163,BC140701 NP_002237,AAY24312,EAX00678,EAX00679,AAC51777,AAG29340,AAI40702,O14649,Q53SU2 Hs.645288 K2p3.1|OAT1|TASK|TASK-1|TBAK1 TWIK-related acid-sensitive K(+) channel 1|TWIK-related acid-sensitive K+ channel|acid-sensitive potassium channel protein TASK|acid-sensitive potassium channel protein TASK-1|cardiac potassium channel|potassium channel subfamily K member 3|potassium inwardly-rectifying channel, subfamily K, member 3|two P domain potassium channel|two pore K(+) channel KT3.1|two pore potassium channel KT3.1 protein-coding 733987 KCNK4 potassium channel, subfamily K, member 4 Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The encoded protein homodimerizes and functions as an outwardly rectifying channel. It is expressed primarily in neural tissues and is stimulated by membrane stretch and polyunsaturated fatty acids. [provided by RefSeq] 1580863 10767409,18516069,16382106,16381901,16344560,15489336,14996553,14759258,12477932,12191490,11256614,11256078,11230166,11172753,11076863,11042359,20811500,19913121,20628086 50801 NM_033310,AP001453,CH471076,AF248242,AF259500,AK296021,BC033577,BC067791,BC110327,CR603880,DB273064,EU978935,AK309443 NP_201567,EAW74242,EAW74243,AAG31731,AAK49389,BAG58791,AAI10328,ACH86094,Q2YDA1,Q9NYG8,AAI60128 Hs.647233 K2p4.1|TRAAK|TRAAK1 K2P4.1 potassium channel|TWIK-related arachidonic acid-stimulated potassium channel protein|potassium channel subfamily K member 4|potassium inwardly-rectifying channel, subfamily k, member 4|two pore K(+) channel KT4.1|two pore K+ channel KT4.1|two pore potassium channel KT4.1 protein-coding 1345390 KCNK5 potassium channel, subfamily K, member 5 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq] 1580863 20582984,11256078,10839924,8889548,9812978,18516069,18157847,16382106,15489334,15197476,14702039,12851074,12634929,12477932,20631251 8645 NM_003740,AL451185,CH471081,AF084830,AK001897,AK314298,BC060793,BC069573,BU608155,EU978936 NP_003731,CAH70466,EAX03979,EAX03980,AAC79458,BAG36953,AAH60793,AAH69573,ACH86095,O95279 Hs.444448 FLJ11035|K2p5.1|TASK-2|TASK2 K2P5.1 potassium channel|TWIK-related acid-sensitive K(+) channel 2|TWIK-related acid-sensitive K+ channel 2|acid-sensitive potassium channel protein TASK-2|potassium channel subfamily K member 5|potassium channel, subfamily K, member 1 (TASK-2) protein-coding 735903 KCNK6 potassium channel, subfamily K, member 6 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq] 1580863 20029952,10075682,18516069,16382106,15489334,14702039,14689445,12477932,11256078,10887187,10393428,10359073,10206991,9373149,1088718,8125298 9424 NM_004823,A94721,AC026806,AJ297404,AJ297405,CH471126,AF117708,AF134149,AF281302,AF281303,AK022344,AK222545,AK315653,BC004367,CR614493,EU978937 NP_004814,CAB70443,CAC15489,EAW56776,AAD24000,AAD22980,AAG10506,AAG10507,BAD96265,BAG38019,AAH04367,ACH86096,Q53HN5,Q9Y257,ABM84348,ABM87739 Hs.240395 FLJ12282|K2p6.1|KCNK8|TOSS|TWIK-2|TWIK2 K2P6.1 potassium channel|TWIK-originated similarity sequence|TWIK-originated sodium similarity sequence|inward rectifying potassium channel protein TWIK-2|potassium channel subfamily K member 6|potassium channel, subfamily k, member 6 (twik-2) protein-coding 1604643 KCNK7 potassium channel, subfamily K, member 7 This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 10206991,16382106,12477932,11256078,11165377 10089 NM_005714,NM_033455,NM_033347,NM_033348,AP001362,CH471076,AF110522,AF110523,AF110524,BC103809,BC103810,BC103811 NP_005705,NP_258416,NP_203133,NP_203134,EAW74411,EAW74412,EAW74413,EAW74414,EAW74415,EAW74416,AAD29578,AAD29579,AAD29580,AAI03810,AAI03811,AAI03812,Q3MI97,Q3SYI1,Q9Y2U2 Hs.175218 K2p7.1|MGC118782|MGC118784|TWIK3 potassium channel subfamily K member 7|potassium channel, subfamily K, member 7, isoform B|two pore domain K+ channel protein-coding 734260 KCNK9 potassium channel, subfamily K, member 9 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This open channel is highly expressed in the cerebellum. It is inhibited by extracellular acidification and arachidonic acid, and strongly inhibited by phorbol 12-myristate 13-acetate. [provided by RefSeq] 729095,1580863 20049674,11042359,18854423,18824070,18678320,18417474,18375952,18217213,18094996,17704508,17547699,17013562,16382106,15601307,15489334,15284350,15197476,12782791,12676587,12477932,12433946,11886861,11431495,11256078,10747866,10734076,19703964,20379614 729095 51305 NM_016601,AC007869,CH471060,AF212829,AF248241,AF257080,AF279809,AY190605,BC075079,BC075080,BC112063,BC112065,NG_012842 NP_057685,EAW92196,EAW92197,EAW92198,AAF63708,AAG31730,AAG33126,AAF85982,AAO38739,AAH75079,AAH75080,AAI12064,AAI12066,Q9NPC2 Hs.493037 K2p9.1|KT3.2|MGC138268|MGC138270|TASK-3|TASK3 TWIK-related acid-sensitive K(+) channel 3|TWIK-related acid-sensitive K+ channel 3|acid-sensitive potassium channel protein TASK-3|potassium channel TASK3|potassium channel subfamily K member 9|potassium channel, subfamily k, member 9 (task-3)|two pore K(+) channel KT3.2|two pore potassium channel KT3.2 protein-coding 731981 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20400778,7993625,10692449,15528406,7877450,12388065,11245614,7573516,17706472,18458941,18180950,10840032,11641143,19482008,19456106,19344525,19204046,19168436,19118164,19096717,19052171,18854754,18719396,18559348,18480178,18414909,18404672,18385281,18367663,18345016,18316727,18227273,18162557,18084004,17989352,17901123,17591990,17591987,17586600,17521822,17483867,17468961,17166942,17150299,17146446,16951373,16895996,16790810,16396928,16382103,16100257,16042390,20959415,19738431,20630939,15937479,15849354,15703204,15489334,15280542,15194822,15164054,14715246,14702039,14631046,14584897,14523450,14522958,12566537,12477932,12438308,12434576,12391293,12223479,12161564,12016222,12009018,11986367,11880513,11880485,11832330,11604135,10489376,10097176,9829973,9391153,8962157,8821792,8612769,8006036,7987297,7687074,10758170,20427280,20677014,20012488,20479001,15251455,16081418,16385451,19430934,19552602,19617704,19640305,19718020,20037152,20051533,20379614,20424473,20457834,20574420,20624858,20808839,20508092 3778 NM_002247,NG_012270,NM_001161352,NM_001161353,AC011439,AC021032,AC067745,AL157833,AL607069,AL627447,AL731556,AL731560,AL731575,CH471083,AB113382,AB113575,AB209488,AF025999,AF118141,AK024857,AK055362,AK124355,AK128392,AK310379,AY040849,AY445624,BC009695,BC024965,BC062659,BC137115,BC137137,BC144496,NM_001014797,BQ574058,BX648925,U02632,U09384,U11058,U11717,U13913,U23767,AB524033 NP_001014797,NP_002238,NP_001154824,NP_001154825,CAI39728,CAI39729,CAI39730,CAI39731,CAI39732,CAI39733,CAI39734,CAI39735,CAI39736,CAI39737,CAI39738,CAI16162,CAI16163,CAI16164,CAI16165,CAI16166,CAI16168,CAI16169,CAI16170,CAI16171,CAI16172,CAI14072,CAI14073,CAI14074,CAI14075,CAI14076,CAI14077,CAI14078,CAI14079,CAI14081,CAI14082,CAI40868,CAI40869,CAI40870,CAI40871,CAI40872,CAI40873,CAI40874,CAI40875,CAI40877,CAI40878,CAI40879,CAI40880,CAI40881,EAW54597,EAW54598,EAW54599,EAW54600,EAW54601,EAW54602,BAD06365,BAD06397,BAD92725,AAB88802,AAD31173,AAK91504,AAS01054,AAH62659,AAI37116,AAI37138,AAI44497,AAA50173,AAA50216,AAB65837,AAC50353,AAA85104,AAA92290,Q12791,Q59FH2,Q5JQ19,Q5JQ20,Q5JQ21,Q6JJ72,BAJ07308 Hs.144795 BKTM|DKFZp686K1437|KCa1.1|MGC71881|MaxiK|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|mSLO1 BK channel|BKCA alpha subunit|Drosophila slowpoke-like|OTTHUMP00000019905|OTTHUMP00000019906|OTTHUMP00000019908|OTTHUMP00000019909|OTTHUMP00000019910|OTTHUMP00000019912|OTTHUMP00000019913|OTTHUMP00000019914|calcium-activated potassium channel subunit alpha-1|calcium-activated potassium channel, subfamily M subunit alpha-1|hSlo|k(VCA)alpha|maxi K channel|slo homolog|slowpoke homolog|stretch-activated Kca channel protein-coding 733456 KCNMB1 potassium large conductance calcium-activated channel, subfamily M, beta member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq] 69871,1581719,1581718,1580863,1298970 8612769,8799178,19295429,19282863,19204046,19057512,19050450,18854753,18660489,18535015,18496125,18418400,17700361,17496725,16446507,16293791,16189514,16155733,15671602,15528406,15489334,15057310,14522958,12962281,12893878,12670831,12477932,12434576,12223479,12136044,12011654,11994272,11790768,10792058,10489376,9888999,8764643,8006036,19913121,20628086,16002321,19289549,19430934,19801679,20424473,20457834,20966391,20861615 69871,1581719,1581718,1298970 3779 AAB39373 NM_004137,NG_011452,AC134820,AF035046,CH471062,U42601,U42603,U61537,AF026002,AK313979,AY044441,AY515264,BC025707,U25138,U38907,U42600,U61536 NP_004128,EAW61474,EAW61475,EAW61476,AAB16825,AAB16826,AAB61397,AAB88805,BAG36693,AAK95827,AAS20193,AAH25707,AAB02394,AAA81327,AAB16827,AAB61396,AAB39373,Q16558 Hs.484099 K(VCA)beta|SLO-BETA|hslo-beta BK channel beta subunit|BK channel subunit beta-1|BKbeta|BKbeta1|Maxi K channel beta subunit|calcium-activated potassium channel subunit beta|calcium-activated potassium channel subunit beta-1|calcium-activated potassium channel, subfamily M subunit beta-1|charybdotoxin receptor subunit beta-1|hbeta1|k(VCA)beta-1|large conductance Ca2+-activated K+ channel beta 1 subunit|maxi K channel subunit beta-1|slo-beta-1 protein-coding 1343870 KCNMB2 potassium large conductance calcium-activated channel, subfamily M, beta member 2 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Two variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 10692449,10097176,17521822,17460083,16446507,15489334,14522958,12566540,12477932,12136044,11517232,10792058,10766764,10377337,10758170,19204046,19684603 10242 NM_181361,NM_005832,AC024220,AC092929,AC117457,AC139661,CH471052,AB193524,AB193525,AB193526,AB193527,AB193528,AB193529,AB193530,AF099137,AF209747,BC017825,AK298291 NP_852006,EAW78428,EAW78429,BAG69602,BAG69603,BAG69604,BAG69605,BAG69606,BAG69607,BAG69608,AAD23380,AAF36562,NP_005823,AAH17825,Q9Y691,ABM82937,ABM86126,BAH12749 Hs.478368 MGC22431 BK channel subunit beta-2|BKbeta2|MaxiK channel beta 2 subunit|OTTHUMP00000211869|OTTHUMP00000211870|OTTHUMP00000211871|OTTHUMP00000211872|OTTHUMP00000211874|calcium-activated potassium channel subunit beta-2|calcium-activated potassium channel, subfamily M subunit beta-2|charybdotoxin receptor subunit beta-2|hbeta2|hbeta3|k(VCA)beta-2|large conductance calcium-activated potassium channel beta 2 subunit|large-conductance Ca2+-activated K+ channel beta2 subunit|maxi K channel subunit beta-2|slo-beta-2 protein-coding 1323526 KCNMB3 potassium large conductance calcium-activated channel, subfamily M beta member 3 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq] 1580863 10692449,10766764,10792058,19204046,18591419,16958040,14612589,12740608,12477932,12136044,11382809,11382808,10864947,10828459,10585773,10758170 27094 NM_171830,NM_014407,NM_171828,NM_001163677,NR_028135,AC007823,AC076966,AF204159,AF204160,AF204161,AF204162,CH471052,AF139471,AF160968,AF170916,AF214561,NM_171829,AI990131,AK304837,BC082272,BC113851 NP_741980,NP_741981,NP_055222,NP_741979,NP_001157149,AAF97031,AAF97032,AAF97033,AAF97034,EAW78417,EAW78418,EAW78419,EAW78420,EAW78421,AAD54771,AAF67811,AAF89698,AAF36598,BAH14265,Q9NPA1,AAI52861 Hs.591285 BKBETA3|HBETA3|KCNMB2|KCNMBL|SLOBETA3 BK channel subunit beta-3|K(VCA)beta-3|OTTHUMP00000211972|OTTHUMP00000211973|calcium-activated potassium channel subunit beta-3|calcium-activated potassium channel, subfamily M subunit beta-3|charybdotoxin receptor subunit beta-3|large conductance, voltage and Ca2+ activated potassium channel Maxi K beta 3 subunit|maxi K channel subunit beta-3|slo-beta-3 protein-coding 1347636 KCNMB3L potassium large conductance calcium-activated channel, subfamily M, beta member 3-like 1580863 15461802,10585773,20424473 27093 NG_002679,AP000365,AP000547 A8MYL6 KCNMB2L|KCNMB3L|KCNMB3L1|KCNMBLP pseudo 1343155 KCNMB4 potassium large conductance calcium-activated channel, subfamily M, beta member 4 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq] 10692449,18981408,18559348,17913586,15489334,12477932,12223479,12136044,11790768,10828459,10804197,10792058,10758170,19204046,19578543 27345 NM_014505,A94697,AC025569,CH471054,AF160967,AF207992,AF215891,BC042446,BC050621,BM805224,BU556960,CR613566,CR614941 NP_055320,CAB70439,EAW97251,AAF69805,AAF28333,AAF75596,AAH42446,AAH50621,Q86W47 Hs.525529 BK channel subunit beta-4|BKbeta4|calcium-activated potassium channel subunit beta-4|calcium-activated potassium channel, subfamily M subunit beta-4|charybdotoxin receptor subunit beta-4|hbeta4|k(VCA)beta-4|large conductance calcium-dependent potassium ion channel beta 4 subunit|maxi K channel subunit beta-4|slo-beta-4 protein-coding 731634 KCNN1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq] 69872,1580863 8781233,16382103,15489334,12598727,12477932,11844726,11258935,11146124,10683185,10516439,10758170,17474147 69872 3780 NM_002248,AC005602,AC020904,AF131948,CH471106,AB198191,AK298170,BC075037,BE504989,U69883 NP_002239,AAD37507,EAW84646,EAW84647,BAD86831,BAG60442,AAH75037,AAB09562,Q92952 Hs.158173 KCa2.1|SK1|SKCA1|hSK1 SKCa 1|small conductance calcium-activated potassium channel protein 1|small-conductance calcium-activated potassium channel protein-coding 734125 KCNN2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10991935,17452806,17110593,16396931,16382103,15362045,14702039,13679367,12778407,12477932,11395478,11323678,11146124,10713270,10758170,19139040,19815520 3781 NM_021614,NM_170775,AC025761,AC109482,CH471086,AF239613,AF397175,AK090521,AK289948,AY258141,BC015371,BC040722,BC117454,BC117456 NP_067627,NP_740721,EAW48975,EAW48976,AAG16728,AAK84039,BAF82637,AAP45946,AAH15371,AAI17455,AAI17457,Q6PJI0,Q6X2Y2,Q9H2S1 Hs.98280 KCa2.2|SK2|SKCA2|hSK2 OTTHUMP00000222906|SKCa 2|apamin-sensitive small-conductance Ca2+-activated potassium channel|small conductance calcium-activated potassium channel protein 2 protein-coding 733381 KCNN3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. This gene is a member of the KCNN family of potassium channel genes. Two transcript variants encoding two different isoforms have been found for this gene. One of the variants lacks the CAG repeat regions. [provided by RefSeq] 1358338,1358671 19336370,19058789,18519826,18227067,17869187,17101631,17061167,9491810,8896557,8781233,10758170,17207965,20933057,16162291,16086287,15389773,14638680,14559917,12960745,12898569,12808432,12778407,12497613,12477932,12457234,12434576,12007452,11807415,11803450,11532529,11526470,11501944,11395478,11369031,11311923,11146124,11121173,10732800,16393881,16382103,10395215,19472917,19646982,20173747,20360009,20379614,20468064 1358338,1358671 3782 NM_002249,NM_170782,AF336797,AL390204,AL606500,AL954342,AY138901,CH471121,AA284005,AF031815,AF438203,AJ251016,AK310077,AY049734,AY138900,AY258142,BC042147,CR595038,Y08263,NG_016807 NP_002240,NP_740752,AAK15345,CAH71149,CAH71150,CAH71151,CAH71909,CAH71910,CAH71911,CAH72737,CAH72738,CAH72739,AAN46637,EAW53179,EAW53180,EAW53181,EAW53182,AAC26099,AAL40801,CAB61331,AAL10706,AAN46636,AAP45947,AAH42147,CAA69590,Q6JXY2,Q86VF8,Q86VF9,Q96DJ3,Q99415,Q9UGI6,ADQ32897 Hs.490765 KCa2.3|SK3|SKCA3|hSK3 OTTHUMP00000035371|SKCa 3|small conductance calcium-activated potassium channel protein 3 protein-coding 732698 KCNN4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq] 729207,1580863 10880439,20808839,9407042,19644414,19409928,19406468,19270724,19052260,18796614,18792407,18690018,18688283,18547995,18367588,18287336,18227067,18184876,17762175,17585114,17474152,17470662,17353352,17310992,17157250,17151145,16766578,16382103,16251351,15965951,15817638,15489334,15452196,15339840,15039018,14754884,14724753,12773623,12612194,12609997,12493744,9380751,12477932,12434576,12421833,11425865,10961988,10026195,9693050,9326665,10758170,20501432,19587117,19608980,19823864,20407432,20712009,20036632,20720181 729207 3783 NM_002250,A95651,AC115522,AF305731,AF305735,CH471126,AF000972,AF022150,AF022797,AF033021,AF053403,AF395661,BC015337,BT007426,CR598085,CR617778,CR626849,AB128983,AB128984,AB128985,HC874393 NP_002241,CAB70490,AAG26917,EAW57229,EAW57230,AAB82739,AAC23541,AAC51913,AAC36804,AAC35281,AAK81862,AAH15337,AAP36094,O15554,ABM82419,ABM85610,BAI52725,BAI52726,BAI52727,CBM42811 Hs.10082 IK1|IKCA1|KCA4|KCa3.1|SK4|hIKCa1|hKCa4|hSK4 SKCa 4|SKCa4|intermediate conductance calcium-activated potassium channel protein 4|putative Gardos channel|putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel protein-coding 1353354 KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 This gene encodes a protein for a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome, Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that contains a large number of contiguous genes that are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. Two alternative transcripts encoding distinct isoforms have been described. [provided by RefSeq] 1580507,1580508,1580509,1580502,1580863,2317967 20368164,20421371,8900283,17474147,8528244,9020846,19584308,19556355,19551538,19523148,19521339,19516902,19502414,19490272,19372218,19366866,19348785,19340287,19322600,19308350,19305409,19305408,19261104,19252135,19247372,19218243,19202166,19198868,19167356,19160088,19156197,19149796,19139916,19131515,19114714,19077539,19056345,19029186,19027783,19006182,18991055,18931301,18808722,18803136,18774102,18757482,18752142,18713323,18711367,18711366,18651418,18611041,18599533,18596570,18590565,18580685,18567635,18504315,18464913,18441444,18426444,18400097,18390900,18308161,18279388,18266681,18192214,18174212,18093912,18079560,17999538,17997361,17984373,17980676,17932138,17916649,17905336,17853647,17698596,17676362,17646758,17626898,17596298,17544529,17534376,17482572,17470695,17467630,17443681,17384445,17310097,17292394,17227916,17210839,17161064,17130521,17016049,17010804,16987820,16880338,16823764,16818214,16723781,16631607,16610241,16563243,16556866,16556865,16487842,16487223,16414944,16382104,16308347,16253915,16246960,16155735,16132053,16129795,15904893,15851119,15840476,15746444,15707997,15696484,15649981,15534720,15511625,15459184,15389592,15367556,15340049,15242738,15234419,15226366,15176425,15159330,15051636,15028050,14998624,14761891,14760488,14756674,14743216,14731347,14678125,14661677,14576198,14510661,12849668,12820704,12690509,12670483,12612194,12524525,12522251,12511562,12482884,12477932,12442276,12402336,12080180,12051962,11997281,11877438,11799244,11761407,11743032,11289718,11136691,11104781,11101505,11076863,10973849,10970817,10728423,10713961,10704188,10654932,10646604,10482963,10409658,10367071,10220146,10220144,10090886,10024302,9927399,9799083,9781056,9702906,9693036,9641694,9570196,9482580,9386136,9323054,9312006,9305853,9302275,9272155,9164812,9108097,9024139,8872472,8818942,20526338,19617707,20533308,9020845,20833965,20851114,20855658,20875080,20879858,20889853,20962273,21063070,21063774,21070882,19934648,19913121,20553101,20581827,20606385,20628086,20682687,20701788,20802253,20816152,15924777,19289549,19401414,19448982,19540844,19575309,19590188,19632626,19646991,19714318,19716085,19741467,19798621,19808498,19825999,19841300,19843919,19850681,19880070,19892838,19907016,19933996,19940153,19956635,20031635,20040519,20044973,20056949,20062063,20071715,20085748,20108749,20138589,20174558,20186784,20203524,20226272,20379614,20386770,20400777,20424473,20470906,20490451,20509872,20512086,20541041,16540748,19959132,20479109,20139709,20920651,19817925,19913547 1580507,1580508,1580509,1580502,2317967 3784 NM_181798,NM_000218,NG_008935,AB015163,AC013791,AC021424,AC124055,AC124057,AJ006343,AJ006345,AP006463,CH471158,AF000571,AF003743,AF051426,AI473902,AK129678,AK290618,AY114213,BC017074,BC113545,CR608266,EF010934,EF010935,U86146,U89364,AJ006344 NP_861463,NP_000209,BAA34738,BAA34739,CAB44649,CAB44650,EAX02517,EAX02518,EAX02519,EAX02520,EAX02521,AAC51776,AAC00066,AAC05705,BAF83307,AAM94040,AAH17074,AAI13546,ABJ98773,ABJ98774,AAB53974,AAC51781,A0FIK7,A0FIK8,O00550,P51787,Q14D14,Q96AI9,AAI11848,ADR83214 Hs.95162 ATFB1|ATFB3|FLJ26167|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1|KQT-like 1|kidney and cardiac voltage dependend K+ channel|potassium voltage-gated channel subfamily KQT member 1|slow delayed rectifier channel subunit|voltage-gated potassium channel subunit Kv7.1 protein-coding 1349570 KCNQ1DN KCNQ1 downstream neighbor Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM] 15489334,12477932,11063728,11056398 55539 NR_024627,AC013791,CH471158,AB039920,AJ404617,BC098159,BC098256,BC098319,BC098344 EAX02523,CAB95125,Q9H478 Hs.127821 BWRT|HSA404617 miscrna 1349407 KCNQ1OT1 KCNQ1 overlapping transcript 1 (non-protein coding) Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains a promoter that drives expression of the KCNQ1OT1 transcript exclusively from the paternal allele. The KCNQ1OT1 transcript is thought to be non-coding, and regulates bidirectional gene silencing and the spreading of DNA methylation on the paternally-inherited chromosome. This transcript is thought to be unspliced and extend over more than 60 kb, but its exact nature has not been determined. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and also occurs in some forms of cancer. [provided by RefSeq] 19494037,19711451,12439823,12136243,11813134,10393948,10369866,10220444,8889549,7566098,19617707,19178079,18762571,18299392,18249379,18079696,16965397,16950814,16575194,15952111,15888726,15851119,15340049,15233993,15007390,14702039,14627666,12772698 10984 NG_016178,NR_002728,AC021424,AC124055,AA155694,AF086011,AK123073 Hs.604823 FLJ41078|KCNQ10T1|KvDMR1|KvLQT1-AS|LIT1|NCRNA00012 miscrna 736657 KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq] 1580863 11572947,17044971,9677360,9425895,18625963,18545987,18448631,18353052,18246739,18166285,18089837,18006581,17993630,17872363,17724161,17675531,17475800,17382933,16990515,16721610,16691402,16464983,16382104,16319223,16260777,16235065,15596769,15489334,15483133,15304482,15249611,15178210,15030501,14985406,14759258,14534157,12975309,12890507,12847176,12832524,12754513,12742592,12640002,12524525,12477932,12458027,12395102,12223552,12032157,11780052,11726784,11175290,11160379,11034315,10953053,10908292,10788442,10781098,10713961,10713399,10684873,10479678,10323247,9872318,9836639,9827540,9430594,9039501,16169070,19464834,19494108,19559753,19818940,20119593 3785 NM_172106,NM_172107,NM_172108,NM_004518,NM_172109,NG_009004,AL121827,AL121829,AL353658,CH471077,AF033348,AF074247,AF110020,AK293727,AY358189,BC000699,BC020384,BC127262,BT007043,CR621726,D82346,Y15065 NP_742104,NP_742105,NP_742106,NP_004509,NP_742107,CAI95052,CAI95053,CAI95054,CAI95056,CAI95057,CAI95738,CAI95739,CAI95740,CAI95741,CAI95742,CAI95744,CAI95745,CAI95746,CAH72955,CAH72956,CAH72958,CAH72959,CAH72960,CAH72961,CAH72962,EAW75271,EAW75272,EAW75273,EAW75274,EAW75275,EAW75276,EAW75277,EAW75278,EAW75279,EAW75280,EAW75281,EAW75282,AAB97315,AAC25921,AAD16988,BAG57155,AAQ88556,AAH00699,AAP35692,BAA11557,CAA75348,O43526,Q6UXV8,AAI46295 Hs.161851,Hs.652468 BFNC|EBN|EBN1|ENB1|HNSPC|KCNA11|KV7.2|KVEBN1 KQT-like 2|OTTHUMP00000031682|OTTHUMP00000031684|OTTHUMP00000031687|OTTHUMP00000031689|neuroblastoma-specific potassium channel protein|neuroblastoma-specific potassium channel subunit alpha KvLQT2|potassium voltage-gated channel subfamily KQT member 2|voltage-gated potassium channel subunit Kv7.2 protein-coding 735595 KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3 The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). [provided by RefSeq] 1580863 9677360,9425900,18790849,18786918,18676988,18625963,18425618,18249525,18166285,18089837,16990515,16735477,16721610,16382104,16319223,16235065,15483133,15304482,14534157,12928862,12890507,12832524,12640002,12524525,12223552,12147327,12032157,11159685,11034315,10953053,10908292,10852552,10788442,10781098,10713961,10713399,10684873,10479678,10025409,9872318,9836639,8102508,1859177,19913121,20628086,20610766,12477932,19464834,20379614 3786 NM_004519,NG_008854,AC018540,AC123776,AC131042,AC136373,AF071478,AF071491,CH471060,CS327666,AB208890,AF033347,AK296293,BC128576 Q59H69,AAI52756,NP_004510,AAC96101,EAW92141,EAW92142,CAL00146,BAD92127,AAB97314,BAG58996,AAI28577,O43525 Hs.374023 BFNC2|EBN2|KV7.3 KQT-like 3|potassium channel subunit alpha KvLQT3|potassium channel, voltage-gated, subfamily Q, member 3|potassium voltage-gated channel subfamily KQT member 3|voltage-gated potassium channel subunit Kv7.3 protein-coding 736263 KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4 The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1600303 20739290,10025409,19523148,18941426,18797286,18786918,18030493,17329207,17237198,17033161,16382104,15660259,15304482,12524525,12484650,12112653,11245603,11042367,10925378,10713961,10571947,10369879,16344560,17568767,20301388,20200978,16917933,16823764 1600303 9132 NM_004700,NM_172163,NG_008139,AC119677,AF105216,CH471059,AF105202,AK074957,CA411644,DA782056 NP_004691,NP_751895,AAD14681,EAX07197,AAD14680,BAG52040,P56696 Hs.473058 DFNA2|DFNA2A|KV7.4 KQT-like 4|OTTHUMP00000220901|OTTHUMP00000220902|potassium channel KQT-like 4|potassium channel subunit alpha KvLQT4|potassium voltage-gated channel subfamily KQT member 4|potassium voltage-gated channel, subfamily q, member 4|voltage-gated potassium channel subunit Kv7.4 protein-coding 1351630 KCNQ5 potassium voltage-gated channel, KQT-like subfamily, member 5 This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19910673,20379614,10787416,18786918,18457656,11159685,10816588,17237198,16382104,16344560,15489334,15304482,14574404,12890507,12506198,12477932,12032157,19913121,20628086 56479 NM_019842,NM_001160130,NM_001160132,NM_001160133,NM_001160134,AJ272506,AL049845,AL360232,AL360236,AL365232,AL445569,AL513522,AL671823,CH471051,AF202977,AF249278,AF263835,AK299550,AK299741,AK316070,BC050689,BC117359,BC143554,BC143555,BF513800,DA801374 NP_062816,NP_001153602,NP_001153604,NP_001153605,NP_001153606,CAC88112,CAH73176,CAH73177,CAI39828,CAO03582,CAH70463,CAH70464,EAW48782,EAW48783,AAF69797,AAF91335,AAF73446,BAG61495,BAG61636,BAH14441,AAH50689,AAI17360,AAI43555,Q9NR82,CAO03369,CAO03370,CAO03371 Hs.445324 Kv7.5 KQT-like 5|OTTHUMP00000196167|potassium channel protein|potassium channel subunit alpha KvLQT5|potassium voltage-gated channel subfamily KQT member 5|voltage-gated potassium channel subunit Kv7.5 protein-coding 1316250 KCNRG potassium channel regulator KCNRG is a soluble protein with characteristics suggesting it forms heterotetramers with voltage-gated K(+) channels (see MIM 176260) and inhibits their function (Ivanov et al., 2003 [PubMed 12650944]).[supplied by OMIM] 1580863 16189514,18029348,19251657,16819283,16499869,15489334,15188451,14702039,12650944,12477932,19447967,19968958,20237900 283518 BC020887,BC032343,NM_173605,AL137060,CH471075,AF086244,AK313401,AY129653,AY129654,AY169387,AY169388,AY190921,AY190922,NM_199464 AAH20887,AAH32343,Q8N5I3,ABM82527,ABM85722,NP_955751,NP_775876,CAM17621,CAM17622,EAX08849,EAX08850,AAN06090,AAN06091,AAO11777,AAO11778,AAO27464,AAO27465 Hs.660161 DLTET putative potassium channel regulatory protein protein-coding 735720 KCNS1 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq] 737625,1580863 10484328,16382104,15489334,12477932,11780052,11549316,9305895,20724292 737625 3787 NM_002251,CH471077,Z93016,AF043473,AK289735,BC075033,BC075034,BC132957,BC132959,BC144234 NP_002242,EAW75879,EAW75880,CAB07507,AAC13165,BAF82424,AAH75033,AAH75034,AAI32958,AAI32960,AAI44235,Q96KK3 Hs.117780 KV9.1 delayed-rectifier K(+) channel alpha subunit 1|delayed-rectifier K+ channel alpha subunit 1|potassium voltage-gated channel subfamily S member 1|voltage-gated potassium channel protein Kv9.1|voltage-gated potassium channel subunit Kv9.1 protein-coding 1342899 KCNS2 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 737625,1580863 16382104,15489334,12477932,10574461,9305895,8640222 737625 3788 NM_020697,AP003355,CH471060,AB032970,AK293096,BC027932,BC034778 NP_065748,EAW91780,BAA86458,BAF85785,AAH27932,AAH34778,Q9ULS6 Hs.388045 KV9.2 delayed-rectifier K(+) channel alpha subunit 2|potassium voltage-gated channel subfamily S member 2|voltage-gated potassium channel subunit Kv9.2 protein-coding 731286 KCNS3 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq] 1580863 16382104,15827117,15714333,15489334,12477932,9704029,9373149,9362476,8125298,10484328,18676988,18029348 3790 NM_002252,AC093731,CH471053,AF043472,AK075088,AK225833,AK314451,BC004148,BC004987,BC015947,CR615536,NG_012873 NP_002243,EAX00861,EAX00862,AAC13164,BAG37059,AAH04148,AAH04987,AAH15947,Q4ZFY1,Q9BQ31,ABM82038,ABM82041,ABM85218 Hs.414489 KV9.3|MGC9481 OTTHUMP00000200487|Shab-related delayed-rectifier K+ channel alpha subunit 3|delayed-rectifier K(+) channel alpha subunit 3|potassium voltage-gated channel delayed-rectifier protein S3|potassium voltage-gated channel subfamily S member 3|voltage-gated potassium channel protein Kv9.3|voltage-gated potassium channel subunit Kv9.3 protein-coding 734382 KCNT1 potassium channel, subfamily T, member 1 16382103,16344560,15164053,14702039,12477932,10718198 57582 NM_020822,AL158822,CH471090,AB037843,AK123276,AK124588,AK127272,BC136618,BC144304,BC171770,BX110871,DA095802 NP_065873,CAI39240,EAW88177,EAW88178,EAW88179,EAW88180,EAW88181,EAW88182,BAA92660,BAG54469,AAI36619,AAI71770,Q5JUK3 Hs.104950 FLJ41282|KCa4.1|SLACK|bA100C15.2 OTTHUMP00000022558|OTTHUMP00000215618|OTTHUMP00000215619|OTTHUMP00000215620|OTTHUMP00000215622|OTTHUMP00000215624|potassium channel subfamily T member 1|potassium channel subunit (slack) protein-coding 1351112 KCNT2 potassium channel, subfamily T, member 2 21116278,16687497,16382103,14684870,12477932 343450 NM_198503,AL138931,AL139137,AL358853,AL591604,CH471067,AK127807,AK131498,AK309729,AY359444,BC103947,BC103948,BC103949,BC103950,BX647852,EU251076 NP_940905,CAI15623,CAI15624,CAI16091,CAI16092,CAH71957,CAH71958,CAH72932,CAH72933,EAW91255,EAW91256,BAC87144,BAD18642,AAR06170,AAI03948,AAI03949,AAI03950,AAI03951,CAI46099,ABX11496,Q3SY61,Q6UVM3,Q6ZS12 Hs.657046 KCa4.2|MGC119610|MGC119611|MGC119612|MGC119613|RP11-58O13.1|SLICK|SLO2.1 potassium channel subfamily T member 2|sequence like an intermediate conductance potassium channel subunit|sodium activated potassium channel|sodium and chloride activated ATP sensitive potassium channel|sodium and chloride-activated ATP-sensitive potassium channel Slo2.1|sodium- and chloride-activated ATP-sensitive potassium channel|sodium-and chloride-activated ATP-sensitive potassium channel (SLICK) protein-coding 1348220 KCNU1 potassium channel, subfamily U, member 1 16421571,16382103,16344560,12477932,9452476,20379614 157855 NM_001031836,AC090453,AC124076,AC138136,AK302391,BC028701,DB089392,DC401954 NP_001027006,BAG63706,A8MYU2 Hs.13861 KCNMC1|KCa5|KCa5.1|Kcnma3|Slo3 Calcium-activated potassium channel subunit alpha-3|Calcium-activated potassium channel, subfamily M subunit alpha-3|Slowpoke homolog 3|potassium channel subfamily U member 1 protein-coding 731335 KCNV1 potassium channel, subfamily V, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. 1580863 14697513,12477932,12383276,9079713,8670833,16382104 27012 NM_014379,AB032013,AB105051,AC027451,CH471060,AF167082,AK308123,AK313469,BC028739,AK297393 NP_055194,BAA92316,BAC85099,EAW91938,AAD48031,BAG36254,AAH28739,Q6PIU1,Q76FP2,ABM83339,ABM86553,BAG59833 Hs.13285 HNKA|KCNB3|KV2.3|KV8.1 neuronal potassium channel alpha subunit HNKA|potassium channel Kv8.1|potassium voltage-gated channel subfamily V member 1|voltage-gated potassium channel subunit Kv8.1 protein-coding 1319524 KCNV2 potassium channel, subfamily V, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq] 1580863 19952985,18708743,18400204,18235024,17896311,16909397,16382104,15489334,15164053,12477932,12107411,12060745 169522 NM_133497,NG_012181,AL354723,CH471071,AF348983,AK302215,BC101352,BC101353,BQ638061 NP_598004,CAI15124,EAW58803,AAL83910,BAG63572,AAI01353,AAI01354,Q8TDN2 Hs.624689,Hs.660831 KV11.1|Kv8.2|MGC120515|RCD3B potassium voltage-gated channel subfamily V member 2|voltage-gated potassium channel Kv8.2|voltage-gated potassium channel subunit Kv8.2 protein-coding 1601689 KCP kielin/chordin-like protein 15793581,14702039 375616 NM_001135914,NM_199349,AC025594,CH236950,CH471070,AK090684,AK090715,AK095464,AK122706 NP_001129386,NP_955381,EAW83694,BAC03505,BAC04553,BAC85504,Q6ZWJ8 Hs.371746 CRIM2|KCP1|NET67 CRIM-2|KCP-1|cysteine rich BMP regulator 2 (chordin-like)|cysteine-rich BMP regulator 2|cysteine-rich motor neuron 2 protein|kielin|kielin-like|kielin/chordin-like protein|kielin/chordin-like protein 1 protein-coding 1344387 KCS Kenny-Caffey syndrome 9806825 3771 1352985 KCTD1 potassium channel tetramerisation domain containing 1 20379614,19115315,15561718,15489334,15345747,15146197,12477932,11181995,17207965 284252 NM_198991,NM_001136205,NM_001142730,AC007996,AC090206,CH471088,AF542549,AK289870,AW575702,BC042371,BC063652,BQ129398,BU153387,BX366041,CN290475,CR604274 EAX01224,NP_945342,NP_001129677,NP_001136202,EAX01222,EAX01223,EAX01225,EAX01226,AAQ09532,BAF82559,AAH63652,Q719H9,ADQ31963 Hs.526630 C18orf5 BTB/POZ domain-containing protein KCTD1|potassium channel tetramerization domain-containing protein 1 protein-coding 1347079 KCTD10 potassium channel tetramerisation domain containing 10 737633 15489334,14702039,12477932,9373149,8125298,15982757,19154347,19125419,20570916,18029348,18193043,19060906,19605566,19615732,20379614,20864672 737633 83892 NM_031954,AC007570,CH471054,AB209358,AF113208,AK027543,AK056912,AK092170,AK123733,AK222548,AK309783,AY205299,AY597809,BC040062,CR596034,CR597653,CR601770 NP_114160,EAW97860,EAW97861,EAW97862,EAW97863,EAW97864,BAD92595,AAG39279,BAB55188,BAG52491,BAG53947,BAD96268,AAO47716,AAT09002,AAH40062,Q9H3F6 Hs.524731 FLJ41739|MSTP028|ULRO61 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3|BTB/POZ domain-containing protein KCTD10|potassium channel tetramerization domain-containing protein 10 protein-coding 1316133 KCTD11 potassium channel tetramerisation domain containing 11 15489334,15249678,14702039,12477932,12186855,20081843,20591193 147040 NM_001002914,AC026954,CH471108,AK056227,AY646650,BC019929,BC063604,BC103744,BC110598 NP_001002914,EAW90208,BAG51652,AAT75307,AAH19929,AAI10599,Q693B1 Hs.592112 C17orf36|MGC129844|REN|REN/KCTD11 BTB/POZ domain-containing protein KCTD11|potassium channel tetramerization domain containing 11|retinoic acid, EGF, NGF induced gene protein|retinoic acid, EGF, NGF induced gene/potassium channel tetramerization domain containing 11 protein-coding 1319755 KCTD12 potassium channel tetramerisation domain containing 12 737633,1580863 17353931,19336475,18347171,18210030,16344560,15489334,15357420,15345747,14702039,12477932,9110174,8889548,8619474,20386566,20562859 737633 115207 NM_138444,AC000403,CH471093,AF052169,AF359381,AK057635,AK128363,BC013764,BU742274,DB153209 NP_612453,EAW80558,AAQ15187,BAG54666,AAH13764,Q96CX2 Hs.644125 C13orf2|FLJ33073|KIAA1778|PFET1|PFETIN BTB/POZ domain-containing protein KCTD12|OTTHUMP00000018517|predominantly fetal expressed T1 domain protein-coding 1345683 KCTD13 potassium channel tetramerisation domain containing 13 1302826,737633,1580863 15726626,16239304,16189514,15498874,15489334,14702039,12477932,12136098,11593007,19615732,19782033 1302826,737633 253980 NM_178863,AC120114,AJ328335,CH471238,AF289573,AF401315,AK097407,AK289630,AY027918,BC036228,CR625548 NP_849194,EAW79969,EAW79970,AAL55757,AAL14962,BAF82319,AAK27301,AAH36228,Q8WZ19,ABM82481,ABM85668 Hs.534590 FKSG86|PDIP1|POLDIP1|hBACURD1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1|BTB/POZ domain-containing protein KCTD13|TNFAIP1-like protein|polymerase delta-interacting protein 1 protein-coding 1315042 KCTD14 potassium channel tetramerisation domain containing 14 737633,1580863 15489334,12477932 737633 65987 NM_023930,AP003032,CH471076,BC001062,BC001929,BU631809,CB993622,CR613975 NP_076419,EAW75043,EAW75044,AAH01062,AAH01929,Q9BQ13,ABM83668,ABM86914 Hs.709780 MGC2376 BTB/POZ domain-containing protein KCTD14 protein-coding 1313572 KCTD15 potassium channel tetramerisation domain containing 15 737633,1580863 17207965,20712903,20724581,20725061,20816152,20816195,15146197,19164386,19079261,19079260,15489334,15345747,15342556,14702039,12477932,9373149,8125298,16169070,19692490,19746409,19812171,19851340,19910641,19910938,20215397,20386550,20520848,20935630,20571754 737633 79047 NM_024076,NM_001129994,NM_001129995,AC005615,AC008556,AI741557,AK025590,AK027901,AK096843,AK225793,AK291465,AK294543,BC001185,BC009335,BP339379,CN301512,CX752088 ADQ32680,NP_076981,NP_001123466,NP_001123467,BAB55443,BAG53375,BAF84154,BAG57750,AAH01185,AAH09335,Q96SI1 Hs.221873,Hs.606506 MGC25497|MGC2628 BTB/POZ domain-containing protein KCTD15 protein-coding 1320838 KCTD16 potassium channel tetramerisation domain containing 16 20379614,15489334,12477932,10718198 57528 NM_020768,AC008383,AC008652,AC008716,AC010584,AC109441,AB037738,AK292477,BC111962,BC113435,CR749266 NP_065819,BAA92555,BAF85166,AAI11963,AAI13436,CAH18122,Q68DU8,ADR82992 Hs.661870 DKFZp781A1155|KIAA1317|MGC138167 BTB/POZ domain-containing protein KCTD16|OTTHUMP00000223246|OTTHUMP00000223247|potassium channel tetramerization domain-containing protein 16 protein-coding 1353287 KCTD17 potassium channel tetramerisation domain containing 17 737633 16189514,16344560,15489334,15342556,14702039,12477932,10591208 737633 79734 NM_024681,AL022314,CH471095,AA761637,AK022304,AK308720,BC009961,BC025403,BC031038,BP362002,CR596515,DA258908 NP_078957,CAQ07355,CAQ07356,CAQ07357,CAQ07358,EAW60136,EAW60137,EAW60138,EAW60139,EAW60140,BAB14007,AAH25403,AAH31038,Q8N5Z5 Hs.517597 FLJ12242|FLJ98761 BTB/POZ domain-containing protein KCTD17|OTTHUMP00000197758 protein-coding 1346294 KCTD18 potassium channel tetramerisation domain containing 18 15815621,15489334,14702039,12477932 130535 NM_152387,AC012459,CH471063,AK055884,AK095137,AK290867,BC045189,BC059366,BC067755,BU181789,CB960352,CR596892 NP_689600,AAY24308,AAY24309,EAW70203,EAW70204,EAW70205,EAW70206,BAB71035,BAF83556,AAH45189,AAH67755,Q6PI47 Hs.605775 6530404F10Rik|FLJ31322|FLJ37818 BTB/POZ domain-containing protein KCTD18 protein-coding 1349783 KCTD19 potassium channel tetramerisation domain containing 19 14702039,12477932 146212 NM_001100915,AC009061,AC040160,AK097481,AK302567,AK302748,BC070103,BC094790,BC117335 NP_001094385,BAC05072,BAH13746,BAG63961,AAI17336,Q17RG1,ADR83413 Hs.299127 FLJ40162 BTB/POZ domain-containing protein KCTD19 protein-coding 1348745 KCTD2 potassium channel tetramerisation domain containing 2 1580863 12620391,12477932,9110174,8724849,21130836,8619474 23510 NM_015353,AC087651,AC111186,CH471099,AF055014,AK307083,AK310690,BC009633,BC033329,BC047910,BC072404,BC080561,BM906741,D79998 NP_056168,EAW89230,AAH33329,BAA11493,Q14681,Q8IYY2,AAI60142 Hs.514468 KIAA0176 BTB/POZ domain-containing protein KCTD2|potassium channel tetramerization domain-containing protein 2 protein-coding 1320472 KCTD20 potassium channel tetramerisation domain containing 20 15489334,14676191,14574404,12477932,20379614 222658 BC023525,AL136135,CH471081,Z85986,AK295717,AK302861,AK304377,AK316456,AL049282,AL832381,AY305862,NM_173562,BC035879 NP_775833,CAH72192,EAX03892,EAX03893,CAI19118,BAG58561,BAG64045,BAG65215,BAH14827,CAH10583,AAP74385,AAH23525,Q7Z5Y7 Hs.188757 C6orf69|MGC14254|dJ108K11.3 BTB/POZ domain-containing protein KCTD20|chromosome 6 open reading frame 69 protein-coding 1603870 KCTD21 potassium channel tetramerisation domain containing 21 15489334,14702039,12477932 283219 NM_001029859,AP002985,CH471076,AK095233,AK300320,BC036058,CR619406 NP_001025030,EAW75053,EAW75054,BAG62072,AAH36058,Q4G0X4 Hs.528439 BTB/POZ domain-containing protein KCTD21 protein-coding 1321690 KCTD3 potassium channel tetramerisation domain containing 3 15231747,16710414,15489334,14702039,12477932,10508479,19615732 51133 NM_016121,AC092799,AL365315,CH471100,AK024547,AK055925,AK296275,AK316272,AL833887,AL834389,BC013868,BC037896,BC094879,BC117188,BC126173,BC143963,CR614111,CR618107 NP_057205,CAD20310,CAH71926,EAW93344,EAW93345,BAG51592,BAG58984,BAH14643,CAD38743,CAD39051,AAH13868,AAH37896,AAH94879,AAI17189,AAI26174,Q9Y597,ADR83251 Hs.335139 MGC43935|NY-REN-45 BTB/POZ domain-containing protein KCTD3|NY-REN-45 antigen|renal carcinoma antigen NY-REN-45 protein-coding 1353413 KCTD4 potassium channel tetramerisation domain containing 4 1580863 16344560,16189514,15489334,12477932 386618 NM_198404,AL138693,AL138963,CH471075,AK290675,BC018063,BQ575935,DA683655,DB557284 NP_940686,CAH72460,EAX08730,BAF83364,AAH18063,Q8WVF5,ABM86213,ABW03658 Hs.23406,Hs.693242 bA321C24.3 BTB/POZ domain-containing protein KCTD4|OTTHUMP00000018343 protein-coding 1312748 KCTD5 potassium channel tetramerisation domain containing 5 737633,1580863 14702039,17353931,19361449,18573101,17239418,16501559,16344560,15489334,12477932 737633 54442 NM_018992,AC092117,CH471112,AK000047,BC007314,DA134449 NP_061865,EAW85488,EAW85489,EAW85490,EAW85491,BAA90906,AAH07314,Q9NXV2 Hs.61960 FLJ20040 BTB/POZ domain-containing protein KCTD5 protein-coding 1317853 KCTD6 potassium channel tetramerisation domain containing 6 737633 16344560,16303743,15489334,14702039,12477932,19615732,17207965 737633 200845 NM_001128214,NM_153331,AC116036,CH471055,CQ783437,CQ783758,AA721100,AK027572,AK074934,AK075297,BC022893,CR613146,DA359951 NP_001121686,NP_699162,EAW65374,CAF86641,CAF86847,BAG51347,BAC11301,BAC11531,AAH22893,Q8NC69,ADQ32205 Hs.13982 MGC27385 BTB/POZ domain-containing protein KCTD6|OTTHUMP00000214222|OTTHUMP00000214223 protein-coding 1314738 KCTD7 potassium channel tetramerisation domain containing 7 The KCTD gene family, including KCTD7, encode predicted proteins that contain N-terminal domain that is homologous to the T1 domain in voltage-gated potassium channels (see KCNA1; MIM 176260). KCTD7 displays a primary sequence and hydropathy profile indicating intracytoplasmic localization. EST database analysis showed that KCTD7 is expressed in human and mouse brain (Van Bogaert et al., 2007 [PubMed 17455289]).[supplied by OMIM] 737633,1580863 17455289,16344560,15489334,14702039,12690205,12477932,15146197,16368877,8889548 737633 154881 NM_153033,AC006001,CH236961,CH471140,AK055201,AK056631,BC042482,DB095774,CN371295,DA493191,NM_001167961,NG_028110,AK127790,BU682845,BY795857 NP_694578,EAL23735,EAX07918,EAX07919,EAX07920,BAB71236,AAH42482,Q96MP8,NP_001161433 Hs.546627 EPM3|FLJ32069|FLJ45891 BTB/POZ domain-containing protein KCTD7|OTTHUMP00000210530|OTTHUMP00000210531 protein-coding 1323784 KCTD8 potassium channel tetramerisation domain containing 8 14702039,12477932 386617 NM_198353,AC093861,AC131951,AK123347,AK298831,BC132743,BC136793,DB561746 NP_938167,BAC85588,BAG60961,AAI32744,AAI36794,Q6ZWB6,ADR83369 Hs.479644 BTB/POZ domain-containing protein KCTD8 protein-coding 1323768 KCTD9 potassium channel tetramerisation domain containing 9 737633 15489334,14702039,12477932,11483580,19032868,16344560,17207965 737633 54793 NM_017634,AC103779,CH471080,AF075015,AK000045,AK025995,AK298518,AL117436,BC021216,BC068518,BG249272,BQ022851,BU149129,CR621533,DA115324 NP_060104,EAW63587,EAW63588,EAW63589,EAW63590,BAA90904,BAG60722,AAH21216,AAH68518,Q7L273,ADQ32270 Hs.72071,Hs.188763 FLJ20038 BTB/POZ domain-containing protein KCTD9 protein-coding 1625839 KCTD9P2 potassium channel tetramerisation domain containing 9 pseudogene 2 20029029,15772651 643535 NG_011074,AL391071 KCTD9L pseudo 1312273 KDELC1 KDEL (Lys-Asp-Glu-Leu) containing 1 This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. [provided by RefSeq] 16344560,15635705,15489334,15057823,12975309,12477932,11167020,9373149,8125298 79070 NM_024089,AL157769,CH471085,AK074974,AK222567,AK225103,AK309238,AY358959,BC001297,BC051860,CR605114,CR607417,CR608890,CR609732,CR625522,DA885954,DB204842 NP_076994,CAI14525,EAX09067,EAX09068,EAX09069,BAD96287,AAQ89318,AAH01297,Q6UW63,ABM82133,ABM85316 Hs.408629 EP58|KDEL1|MGC5302 ER protein 58|ERp58|KDEL motif-containing 1|KDEL motif-containing protein 1|endoplasmic reticulum resident protein 58 protein-coding 4889171 KDELC1P1 KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1 100144494 AC011332,NG_007523 pseudo 1347684 KDELC2 KDEL (Lys-Asp-Glu-Leu) containing 2 737633 15489334,14702039,12975309,12477932 737633 143888 NM_153705,AP005718,CH471065,AF533708,AI628702,AK098206,AK123743,AK125519,AK313534,AY358616,BC036526,BX648867,CR591240,DN999478 NP_714916,EAW67119,EAW67120,AAQ09021,BAC05260,BAC86191,BAG36311,AAQ88979,AAH36526,Q7Z4H8 Hs.83286 MGC33424 KDEL motif-containing protein 2 protein-coding 1315569 KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq] 1580863 2172835,17353931,15308636,15489334,12975382,12821650,12761501,12477932,11703931,10708517,9405360,9118249,8392934,1310258 10945 AB097047,AK075185,AK312647,BC008958,BC018778,CR592201,CR592306,CR592570,CR592609,CR594589,CR598227,CR598646,CR599333,CR599929,CR600499,CR600547,CR601065,CR601161,CR601178,CR602424,CR603648,CR604864,CR605541,CR605607,CR606699,CR607205,CR607377,CR608454,CR612670,CR614343,CR614727,CR616779,CR617980,CR619315,CR620582,CR621018,CR621761,CR623592,CR624245,CR625086,X55885,NM_006801,AC011514,CH471177 EAW52342,EAW52343,EAW52344,EAW52345,BAC77400,BAC11457,BAG35531,AAH08958,AAH18778,CAA39371,P24390,Q8NBW7,Q96H29,ABM82918,ABM86108,NP_006792,EAW52340,EAW52341 Hs.515515 ERD2|ERD2.1|HDEL|PM23 ER lumen protein retaining receptor 1|KDEL endoplasmic reticulum protein retention receptor 1|KDEL receptor 1|putative MAPK-activating protein PM23 protein-coding 1312161 KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 1316805,17353931,1325562,16344560,15489334,14702039,12853948,12690205,12477932,12071860,11752456,9118249 11014 NM_001100603,NM_006854,AC072052,CH236963,CH878731,AK093917,AK124072,AK315702,AL547016,AV660600,BC008081,BC012994,BC071982,CR595066,CR601220,CR605592,CR607926,CR615882,CR616528,CR617298,CR620529,CR625166,CR625485,DA713413,M88458,X63745 NP_001094073,NP_006845,AAS02002,EAL23722,EAW55029,EAW55030,EAW55031,BAG38064,AAH08081,AAH12994,AAH71982,CAA45277,P33947,ABM83805,ABM87127 Hs.705873,Hs.654552 ELP-1|ERD2.2|FLJ45532 (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2|ER lumen protein retaining receptor 2|ERD-2-like protein|ERD2-like protein 1|KDEL endoplasmic reticulum protein retention receptor 2|KDEL receptor 2 protein-coding 1323044 KDELR3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified, and it encodes a protein highly homologous to KDELR1 and KDELR2 proteins. Two transcript variants of KDELR3 that arise by alternative splicing, and encode different isoforms of KDELR3 receptor, have been described. [provided by RefSeq] 1580863 15489334,15461802,12529303,12477932,10591208,9373149,9118249,8125298 11015 NM_006855,NM_016657,CH471095,CS300667,AK129888,AK222930,AK223238,AK292102,AL035081,BC001277,BC096722,BC098131,BC098156,BC098336,CR456509,CR590826,CR594497,CR594712,CR600149,CR612711,CR613642,CR614427,AL035082,Z97056 NP_006846,NP_057839,EAW60237,EAW60238,EAW60239,EAW60240,CAK32331,BAD96650,BAD96958,BAF84791,CAA22673,CAA22674,AAH01277,AAH96722,AAH98131,AAH98156,AAH98336,CAG30395,O43731,CAK54539,CAK54838,ABM82666,ABM85843,CAB09791 Hs.727678 ERD2L3 ER lumen protein retaining receptor 3|KDEL endoplasmic reticulum protein retention receptor 3|KDEL receptor 3 protein-coding 1346422 KDM1 lysine (K)-specific demethylase 1 This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 737633 18197256,17805299,17687328,17537733,17529991,17511474,17504018,17409384,17367163,17277772,19497860,19223552,19124609,19052240,18806873,18391013,18343668,18216119,16987819,16956976,16914725,16885027,16799558,16710414,16531230,16223729,16169070,16140033,16079795,16079794,15811342,15620353,15489334,14702039,12493763,12477932,12032298,11102443,9628581,9179496,11171972,9804427,15325272,17145880,17081983,20562920,20448663,19242095,20189264,20616235,18573881,18625718,19394292,20333681,17643375,18156491,19522008,19703393,19880879,19896696,19934284,20042638,20127736,20164337,20228790,20331966 737633 23028 NM_015013,NM_001009999,AL031428,CH471134,AA664447,AB011173,AK128669,AK290328,AL833812,BC016639,BC025362,BC040194,BC048134,BG717076,BQ006926,HI929453,HI964241 NP_055828,NP_001009999,CAI19707,CAI19708,EAW95031,EAW95032,EAW95033,BAA25527,BAF83017,CAD38675,AAH16639,AAH40194,AAH25362,AAH48134,O60341,CBY79414,CBY88366 Hs.591518 AOF2|BHC110|KDM1|KIAA0601|LSD1|RP1-184J9.1 BRAF35-HDAC complex protein BHC110|FAD-binding protein BRAF35-HDAC complex, 110 kDa subunit|amine oxidase (flavin containing) domain 2|flavin-containing amine oxidase domain-containing protein 2|lysine (K)-specific demethylase 1|lysine-specific histone demethylase 1|lysine-specific histone demethylase 1A protein-coding 1319753 KDM2A lysine (K)-specific demethylase 2A This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least 6 highly degenerated leucine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 15070733,19001877,17081983,16362057,15635413,15489334,15231748,14702039,12477932,12168954,11214971,10945468,10531037,10531035,10231032,19805303,20080798,20379134,20417597,20936779 22992 BC056905,BC064360,BE675843,CR613662,CR625974,NM_012308,NR_027473,AP000729,AP001885,CH471076,AB023221,AF179221,AK022684,AK024505,AK128293,AK299725,AL117517,BC001203,BC027467,BC047371,BC047486,AB490246 AAH47486,AAH64360,Q9Y2K7,NP_036440,EAW74578,EAW74579,EAW74580,BAA76848,AAD56012,BAB15795,BAG61623,CAH10721,AAH01203,AAH47371,BAJ05817 Hs.124147 CXXC8|DKFZp434M1735|FBL11|FBL7|FBXL11|FLJ00115|FLJ46431|JHDM1A|KIAA1004|LILINA|SF-KDM2A CXXC-type zinc finger protein 8|F-box and leucine-rich repeat protein 11|F-box protein FBL11|F-box protein FBL7|F-box protein Lilina|F-box/LRR-repeat protein 11|[Histone-H3]-lysine-36 demethylase 1A|jmjC domain-containing histone demethylation protein 1A|jumonji C domain-containing histone demethylase 1A|lysine-specific demethylase 2A protein-coding 1320989 KDM2B lysine (K)-specific demethylase 2B This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq] 737633,1580863 16362057,15520277,15489334,15302935,14702039,12477932,19202064,10799292,16943429,17994099,17704768,17672918,20379614 737633 84678 NM_001005366,AC048337,AC073650,AC145422,CH471054,AA504464,AB031230,AJ459424,AK027440,AK027692,AK074718,AK097933,AK127328,AK299827,NM_032590,AK316470,AL133572,BC008735,BC028612,BC115379,BC115380,BX648928,CA430876,CR622952 NP_115979,NP_001005366,EAW98266,EAW98267,EAW98268,BAA97672,CAD30700,BAB55112,BAB55301,BAC11159,BAG54483,BAG61696,BAH14841,CAB63721,AAH08735,AAI15380,AAI15381,Q1RLM6,Q1RLM7,Q8NHM5 Hs.524800 CXXC2|FBXL10|Fbl10|JHDM1B|PCCX2 CXXC-type zinc finger protein 2|F-box and leucine-rich repeat protein 10|F-box protein FBL10|F-box/LRR-repeat protein 10|JEMMA (Jumonji domain, EMSY-interactor, methyltransferase motif) protein|[Histone-H3]-lysine-36 demethylase 1B|jmjC domain-containing histone demethylation protein 1B|jumonji C domain-containing histone demethylase 1B|jumonji domain-containing EMSY-interactor methyltransferase motif protein|lysine-specific demethylase 2B|protein containing CXXC domain 2|protein-containing CXXC domain 2 protein-coding 1346048 KDM3A lysine (K)-specific demethylase 3A This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 16603237,18984585,18713068,18538129,15815621,15489334,15302935,14702039,12477932,9872452,16344560,19471969,19615732,19858293,20042601,20127736,20378615 55818 BX647271,BX647752,BX648841,BX649109,CR749581,DB087171,DB453517,AL832150,NM_001146688,AC068288,CH471053,AB018285,AI911797,AK074314,AK125045,AK304276,BC038297,BG723267,BX537674,BX640698,NM_018433 CAH18373,Q9P0K0,Q9Y4C1,CAH18459,AAI56519,AAI72547,NP_060903,NP_001140160,AAY24210,EAW99453,EAW99454,EAW99455,EAW99456,BAA34462,BAG65137,CAE45820 Hs.557425 DKFZp686A24246|DKFZp686P07111|JHDM2A|JHMD2A|JMJD1|JMJD1A|KIAA0742|TSGA OTTHUMP00000160707|OTTHUMP00000203309|jmjC domain-containing histone demethylation protein 2A|jumonji C domain-containing histone demethylase 2A|jumonji domain containing 1|jumonji domain containing 1A|jumonji domain-containing protein 1A|lysine-specific demethylase 3A|testis-specific protein A protein-coding 1343523 KDM3B lysine (K)-specific demethylase 3B 17081983,16603237,15635413,15489334,15302935,15138608,12477932,12168954,11687974,11161817,11087669,10737800,10470851,18029348,19615732,20379614,21102462 51780 NM_016604,AC104116,AC113403,CH471062,AB029005,AF251039,AF338242,AK025755,AK304371,BC000539,BC001202,BC073869,BC117693,BC146788,BG390435,BI037147,BU149311,BU506660,BU752879,CR596928,CR615541,W28844 NP_057688,EAW62141,EAW62142,BAA83034,AAF63765,AAK13499,BAG65210,AAH00539,AAH01202,AAI17694,AAI46789,Q7LBC6 Hs.483486 5qNCA|C5orf7|JMJD1B|KIAA1082|NET22 jmjC domain-containing histone demethylation protein 2B|jumonji domain containing 1B|jumonji domain-containing protein 1B|lysine-specific demethylase 3B|nuclear protein 5qNCA protein-coding 1314960 KDM4A lysine (K)-specific demethylase 4A This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq] 1580863 16024779,17567753,18029348,19144645,18084306,17611647,17589523,17589501,17555712,16732292,16710414,16677698,16603238,16601153,16415788,16094384,15927959,15489334,15342556,15146197,15138608,12477932,9734811,8889548,14527417,19615732,17207460 9682 NM_014663,AC092815,AL451062,CH471059,AB014577,AK294596,AK300039,AK310295,BC002558,BP198064,CA944984,CN361683,CR596058 NP_055478,CAH71021,EAX07085,BAA31652,BAG57784,BAG61850,AAH02558,O75164 Hs.155983 JHDM3A|JMJD2|JMJD2A|KIAA0677 jmjC domain-containing histone demethylation protein 3A|jumonji C domain-containing histone demethylase 3A|jumonji domain containing 2|jumonji domain containing 2A|jumonji domain-containing protein 2A|lysine-specific demethylase 4A protein-coding 1349901 KDM4B lysine (K)-specific demethylase 4B 1580863 18984585,18713068,17611647,16603238,16344560,15927959,15489334,15302935,15138608,15057824,12477932,12168954,10737800,10048485,9110174,8619474,20682797,16169070,20379614 23030 AC005595,AC022517,AC053467,AC093033,AC104520,CH471139,AB020683,AF052144,AK026040,AK126854,AL133622,BC015378,BC040014,BC046167,BC063889,BC136611,BC144292,BF917212,CR592462,DA379611,NM_015015,DB636535 NP_055830,AAF31271,EAW69180,EAW69181,EAW69182,EAW69183,BAA74899,BAG54381,CAB63748,AAH63889,AAI36612,AAI44293,O94953 Hs.654816 FLJ44906|JMJD2B|KIAA0876 jmjC domain-containing histone demethylation protein 3B|jumonji domain containing 2B|jumonji domain-containing protein 2B|lysine-specific demethylase 4B protein-coding 1316776 KDM4C lysine (K)-specific demethylase 4C This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein with one JmjC domain, one JmjN domain, two PHD-type zinc fingers, and two Tudor domains. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form. Chromosomal aberrations and increased transcriptional expression of this gene are associated with esophageal squamous cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 17207460,19339270,18927281,18713068,18649358,17611647,17277772,16732293,16603238,16344560,15489334,15164053,15138608,12477932,10987278,9872452,20923822,18066052,19784073,20127736,20379614,20410850 23081 NM_015061,NM_001146694,NM_001146695,NM_001146696,AL137020,AL161443,AL354707,AL445592,AL513412,CH471071,AB018323,AB037901,AF085959,AI017056,AK296401,AK303651,AK304032,AK304095,AK310439,AK314355,BC008296,BC036628,BC053678,BC060771,BC104859,BC104861,BC143571,BX111090,CR600819,DA470476 NP_055876,NP_001140166,NP_001140167,NP_001140168,CAI39532,CAI39606,CAI39607,CAH73283,CAH73284,CAQ07510,CAI16322,CAI16323,EAW58730,EAW58731,EAW58732,EAW58733,EAW58734,BAA34500,BAB16102,BAH12342,BAG64654,BAG64946,BAG65001,AAI04860,AAI04862,AAI43572,Q9H3R0 Hs.709425 FLJ25949|GASC1|JHDM3C|JMJD2C|KIAA0780|bA146B14.1 GASC-1 protein|JmjC domain-containing histone demethylation protein 3C|gene amplified in squamous cell carcinoma 1 protein|jumonji domain containing 2C|jumonji domain-containing protein 2C|lysine-specific demethylase 4C protein-coding 1353550 KDM4D lysine (K)-specific demethylase 4D 18951430,17555712,16603238,16554811,15489334,15138608,14702039,12477932,8889548,17207460 55693 AP002383,CH471065,AK001113,AK056162,AL137545,AW593120,BC031862,BC074739,BC119010,BC122858,CA311555,NM_018039 NP_060509,EAW66952,BAA91508,BAG51636,CAB70803,AAH74739,AAI19011,AAI22859,Q6B0I6 Hs.503598 FLJ10251|JMJD2D|MGC141909 jmjC domain-containing histone demethylation protein 3D|jumonji domain containing 2D|jumonji domain-containing protein 2D|lysine-specific demethylase 4D protein-coding 2311613 KDM4DL lysine (K)-specific demethylase 4D-like 12477932 390245 AP002383,BC157851,BC157889,BC171916,NM_001161630 AAI57852,AAI57890,AAI71916,B2RXH2,NP_001155102 Hs.714692 MGC189713|MGC189746|MGC198631 KDM4D-like protein|lysine (K)-specific demethylase 4D-like|lysine-specific demethylase 4D-like protein-coding 1313452 KDM5A lysine (K)-specific demethylase 5A The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein which regulates cell proliferation. This protein also interacts with rhombotin-2 which functions distinctly in erythropoiesis and in T-cell leukemogenesis. Rhombotin-2 is thought to either directly affect the activity of the encoded protein or may indirectly modulate the functions of the retinoblastoma protein by binding to this protein. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 15640446,19430464,19762557,1857421,11358960,8414517,11445587,18029348,18722178,17573780,17320161,17081983,16645588,16541399,16344560,15302935,14702039,12477932,9373149,9129143,9110174,8889549,8619474,8530100,8125298,7935440,15949438,20383146 5927 AC005844,AC007406,CH471116,AA101935,AB209999,AF007135,AK057703,AK225060,AK301150,AK301273,AK307580,AK307689,AL133026,BC048307,NM_001042603,BC053893,BC092417,BC110916,DB079061,S66431 NP_001036068,EAW88970,EAW88971,BAE06081,BAG62741,BAG62835,AAH48307,AAH53893,AAI10917,AAB28544,P29375,AAI56462,AAI72533 Hs.76272 JARID1A|RBBP-2|RBBP2|RBP2 Jumonji, AT rich interactive domain 1A (RBBP2-like)|Jumonji, AT rich interactive domain 1A (RBP2-like)|histone demethylase JARID1A|jumonji, AT rich interactive domain 1A|jumonji, at rich interactive domain 1a (rbbp2-like)|jumonji/ARID domain-containing protein 1A|lysine-specific demethylase 5A|retinoblastoma binding protein 2|retinoblastoma-binding protein 2 protein-coding 1322449 KDM5B lysine (K)-specific demethylase 5B 1580863 12657635,10336460,19536175,19336002,18048344,17973255,17709396,17373667,17363312,16541399,15640446,14702039,12237901,11483573,11478881,10878660,19242095,20403335,20832725,15803180,19615732,20226085,20478252,18029348,20863814 10765 NM_006618,AC098934,AC104463,AY370676,CH471067,AB015348,AF087481,AJ132440,AJ243706,AK001400,AK022521,AK022553,AK074250,AK122752,AK125746,AL133040,AL133048,AL133072,AL137622,CF593335,CR610637 NP_006609,AAQ82849,EAW91432,EAW91433,EAW91434,EAW91435,BAA34803,AAD16061,CAB43532,CAB63108,BAG50904,BAG51084,BAG51090,BAG53706,CAB61368,CAB61375,CAB61395,CAB70847,O94800,Q6UGB8,Q9NSZ7,Q9UFC7,Q9UFD3,Q9UGL1,Q9UIW7,AAI56050,AAI57032 Hs.443650 CT31|FLJ10538|FLJ12459|FLJ12491|FLJ16281|FLJ23670|JARID1B|PLU-1|PLU1|PUT1|RBBP2H1A OTTHUMP00000197658|RBP2-H1|RBP2-like|cancer/testis antigen 31|histone demethylase JARID1B|jumonji, AT rich interactive domain 1B|jumonji, at rich interactive domain 1b (rbp2-like)|jumonji/ARID domain-containing protein 1B|lysine-specific demethylase 5B|putative DNA/chromatin binding motif|retinoblastoma-binding protein 2 homolog 1|retinoblastoma-binding protein 2, homolog 1A protein-coding 1349337 KDM5C lysine (K)-specific demethylase 5C This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 17320161,19826449,20054297,20538609,16964243,16538222,17320160,19346402,18697827,18078810,17468742,17081983,16541399,16344560,15772651,15586325,15302935,14660691,12477932,8162017,7951230 8242 NM_004187,NG_008085,NM_001146702,AL139396,CH471154,AI221739,AK304732,AK308077,BC047751,BC054499,BI711169,CR602759,CR605926,DB229140,EF613277,L25270,Z29650 CAQ07215,NP_004178,NP_001140174,CAI39836,CAI39837,CAI39838,EAW93145,EAW93146,BAG65494,AAH54499,ABR13544,AAA61302,CAA82758,P41229,ABZ92271,ACE87476,ACE86790 Hs.723833,Hs.631768 DXS1272E|JARID1C|MRXJ|MRXSJ|SMCX|XE169 JmjC domain-containing protein SMCX|Jumonji, AT rich interactive domain 1C (RBP2-like)|Jumonji/ARID domain-containing protein 1C|Smcx homolog, X chromosome|Smcy homolog, X-linked|histone demethylase JARID1C|jumonji, AT rich interactive domain 1C|lysine-specific demethylase 5C|protein SmcX|selected cDNA on X|smcy homolog, x-linked (mouse) protein-coding 1346764 KDM5D lysine (K)-specific demethylase 5D This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 17320160,19223392,18459961,17320162,16988213,16541399,19541808,16344560,15613541,14702039,14660691,12815422,12477932,10861003,10747295,9798702,9678364,9143681,9060413,9039502,8841177,7667640,7524912 8284 NM_004653,NM_001146705,NM_001146706,AC010889,AF134849,AF273841,CH471202,AA864889,AK095923,AK127269,AK304027,BC011053,BC132721,BC144101,BC144102,BC146767,BM052719,BM455812,BX648643,D87072,DA940867,U52191,U52365 NP_004644,NP_001140177,NP_001140178,AAK27839,AAG00951,EAW54663,EAW54664,BAG54468,BAG64942,AAI32722,AAI44103,AAI46768,BAA13241,AAC50806,AAC51135,Q9BY66 Hs.80358 HY|HYA|JARID1D|KIAA0234|SMCY H-Y|Jumonji, AT rich interactive domain 1D (RBP2-like)|OTTHUMP00000034667|SMC homolog, Y chromosome|Smcy homolog, Y chromosome|Smcy homolog, Y-linked|histocompatibility Y antigen|histone demethylase JARID1D|jumonji, AT rich interactive domain 1D|jumonji/ARID domain-containing protein 1D|lysine-specific demethylase 5D|protein SmcY|selected mouse cDNA on Y, human homolog of|smcy homolog, y-linked (mouse) protein-coding 2794502 KDM5DP1 lysine (K)-specific demethylase 5D pseudogene 1 12815422,9847074 359796 AC007678,NG_002818 SMCYP pseudo 1354488 KDM6A lysine (K)-specific demethylase 6A 1580863 19377476,20054297,20123895,20442750,17178841,18029348,19330029,18003914,17851529,17761849,17713478,17500065,15758204,15345747,15302935,15231748,14660691,12477932,10767340,9854018,9499428,9381176 7403 NG_016260,DQ062676,DQ062677,AC136488,AL133545,AL138744,AY591397,CH471141,AB208795,AF000992,AF000993,AK294456,AK303430,AK304114,AK307691,AL041377,AL831996,BC093868,BC113381,BC143272,BC143275,BC143277,BC143278,BX640694,CR598760,CR749602,DC381812,NM_021140,DQ062678 AAZ06655,AAZ06656,CAI40508,CAI41479,AAT86073,EAW59368,BAD92032,AAC51839,AAC51840,BAG57692,BAG64480,BAG65015,CAD89904,AAH93868,AAI13382,AAI43273,AAI43278,AAI43279,CAE45817,CAH18397,O15550,Q590H7,Q59HG3,Q68D33,Q6N053,Q86TD1,NP_066963,AAZ06657 Hs.522616 DKFZp686A03225|MGC141941|UTX|bA386N14.2 bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))|histone demethylase UTX|lysine-specific demethylase 6A|ubiquitously transcribed TPR protein on the X chromosome|ubiquitously transcribed X chromosome tetratricopeptide repeat protein|ubiquitously transcribed tetratricopeptide repeat protein X-linked|ubiquitously-transcribed TPR gene on the X chromosome|ubiquitously-transcribed TPR protein on the X chromosome|ubiquitously-transcribed X chromosome tetratricopeptide repeat protein protein-coding 1316934 KDM6B lysine (K)-specific demethylase 6B 1580863 19451217,18628393,18003914,17923864,17713478,12477932,10662545,9205841 23135 AC104581,NM_001080424,CH471108,AB002344,BC009994,BC035897 NP_001073893,EAW90127,EAW90128,BAA21572,AAH09994,O15054 Hs.726628 JMJD3|KIAA0346 jmjC domain-containing protein 3|jumonji domain containing 3, histone lysine demethylase|jumonji domain-containing protein 3|lysine demethylase 6B|lysine-specific demethylase 6B protein-coding 731018 KDR kinase insert domain receptor (a type III receptor tyrosine kinase) Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq] 1626621,1334463,2292019,2291926,2291951,2298727,2313728,2313724,2291925,2291936,2291934,2291949,2291950,2289964,2301252,2298729,2301761,2301756,2301760,2313725,2301758,2301757,2301759,2301755,2301848,2291929,2291952,1580863,1581717,1304323,1581706,1581713 19595210,20463083,20548028,20103598,20124452,20158393,20484670,20824203,15638384,14724572,1417831,7929439,1656371,19563658,19521715,19520980,19453261,19435508,19419943,19372461,19287991,19267251,19265684,19246491,19244479,19199116,19179362,19177438,19176370,19160077,19141860,19136612,19110567,19082506,19066962,19058181,19023980,19021062,19020728,19014781,18996102,18987662,18975312,18931684,18922344,18840653,18824714,18818406,18785001,18784964,18719373,18692535,18656381,18651620,18645275,18628209,18609713,18594014,18593464,17721629,17707181,17702744,17651148,17646929,17641225,17640715,17631646,17599955,17584927,17577783,17575273,17490619,17470361,17462601,17456229,17372230,17336974,17293873,17242158,17222790,17088944,17018613,17013089,16951193,16930552,16914267,16914140,15625130,15610528,15522955,15507525,15500293,15492987,15474514,15470196,15342556,15291808,15284224,15247219,15217908,15183893,15175347,15166498,15135259,15135240,15111490,15082792,15060076,15051508,15026417,15016828,14996703,14967383,14764537,14760936,14726393,15637071,19834490,20501673,20529868,20695190,20538805,20686603,20367253,19929443,18509004,18421240,18396391,18379357,18356031,18337563,18317954,18261985,18223683,18218912,18211808,18194650,18175243,18164591,18162457,18037047,18035072,18006432,17999592,17979890,17961532,17928406,17927494,17891484,17881084,17850794,17765237,17722983,15962006,15962004,15941713,15845615,15806151,15714119,15693894,15673613,18564921,16909199,16893970,16870555,16835828,16835467,16807673,16787925,16786116,16782059,16763549,16761623,16684957,16682007,16678129,16648151,16630933,16617095,16574784,16557278,16530705,16516857,16513643,16467880,16453023,16439688,16361360,16339483,16322069,16308314,16260429,16226108,16169405,16105658,16049137,16007196,15980434,15975559,14687619,14674128,14654077,14635716,14602571,14532277,12949011,12920240,12810080,12670961,12652295,12649282,12607599,12598525,12560084,12551914,12529448,12464608,12456025,12439912,12426207,12213878,12174363,12154000,12067897,12029087,12023952,11994280,11986954,11960378,11950700,11852061,11824379,11809684,11807987,11693202,11688957,11494124,11409852,11387210,11333271,11332691,11166270,11145723,10961983,10873597,10865839,10749680,10692392,10608891,10590123,10579917,10455194,10428027,10371349,10368301,10329451,10319320,10022831,9973224,9621077,14704231,14691147,9435229,9405464,9398617,9256359,8946838,8621427,8126087,7736781,7559454,1717995,16697675,15528360,15857508,12716911,12796773,14977921,15542434,12810700,14600159,18662404,19913121,20367641,20485168,20602615,20628086,20630084,20706192,20716285,12477932,12820653,16966330,17318185,19200976,19218116,19261502,19324448,19372376,19372622,19375500,19409555,19469899,19558547,19570985,19605404,19633424,19636022,19665480,19695569,19701853,19706677,19706681,19707156,19726758,19741061,19773544,19779861,19782046,19811263,19837659,19837976,19850021,19857463,19860625,19862822,19875757,19881969,19888537,19902430,19924384,19936766,19953880,19965681,20008289,20019880,20026801,20032607,20048182,20084021,20084057,20103629,20135347,20143086,20145116,20164029,20167365,20170163,20179233,20182906,20195243,20215856,20224550,20236940,20389299,20446891,20453000,20471686,20510958,9790910,18377662,19776290,20800603,20959405,21048041,20218294,20395257,20635108,20923780,20963665,21041381,20158395,20222950,20606037,20674013,20615131 1626621,1334463,2292019,2291926,2291951,2298727,2313728,2313724,2291925,2291936,2291934,2291949,2291950,2289964,2301252,2298729,2301761,2301756,2301760,2313725,2301757,2301759,2301755,2291929,2291952,1581717,1304323,1581706,1581713 3791 NG_012004,NM_002253,AC111194,CH471057,X89776,AB209901,AF035121,AF063658,AK293668,BC131822,BP280621,CR606055,EU826563,FJ899739,L04947,X61656,AC021220 CAA43837,NP_002244,EAX05462,EAX05463,EAX05464,CAA61916,BAD93138,AAB88005,AAC16450,BAG57114,AAI31823,ACF47599,ACR78514,AAA59459,P35968,Q59EB0 Hs.479756 CD309|FLK1|VEGFR|VEGFR2 fetal liver kinase 1|fetal liver kinase-1|protein-tyrosine kinase receptor Flk-1|soluble VEGFR2|tyrosine kinase growth factor receptor|vascular endothelial growth factor receptor 2 protein-coding 1317161 KDSR 3-ketodihydrosphingosine reductase The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq] 1598985,1580863 8417785,19027726,19019774,18395445,17420465,16711541,15489334,15328338,14702039,12960700,12477932,7949096,20855565,15364918,19773279 1598985 2531 NM_002035,AC021803,AC036176,CH471096,AF086045,AK025120,AK093874,AK126679,AK297670,AK312360,BC008797,BI458411,BT006782,CR594682,X63657 NP_002026,EAW63140,EAW63141,BAG60032,BAG35278,AAH08797,AAP35428,CAA45197,Q06136 Hs.74050 DHSR|FLJ36555|FLJ92680|FVT1|SDR35C1 3-dehydrosphinganine reductase|3-ketodihydrosphingosine reductase|FVT-1|KDS reductase|follicular lymphoma variant translocation 1|follicular variant translocation protein 1|short chain dehydrogenase/reductase family 35C, member 1 protein-coding 1605110 KEAP1 kelch-like ECH-associated protein 1 This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq] 15166316,15367669,20534738,20600852,20427290,18029348,19424632,18829555,18757741,18692501,18555005,18476723,18316592,18251510,18240569,18062931,17980616,17925401,17903176,17822677,17636022,17603223,17259171,17145701,17046835,17020408,16508120,16507366,16344560,16204884,16189514,16137655,16006525,16000310,15983046,15917255,15601839,15583386,15572695,15475350,15379550,15282312,15231748,14702039,12947090,12477932,12360409,12145307,11921171,11909699,11439354,9887101,8590280,18417180,18358244,14517290,20421418,16888629,17439941,17462537,17510365,19321346,19489739,19520915,19608619,19615732,19671143,19706542,19818716,19967722,20061377,20064547,20196834,20213688,20378532,15985429,20124447,20562859,20801881 9817 NM_203500,NM_012289,AC011461,AF361892,CH471106,AF361886,AK056204,AU130822,BC002417,BC002930,BC003156,BC014118,BC015945,BC021957,CR598894,D50922 NP_987096,NP_036421,AAK43722,EAW84110,EAW84111,EAW84112,AAK51082,BAG51647,AAH02417,AAH02930,AAH15945,AAH21957,BAA09481,Q14145,ABM84565,ABM86523,ABW03660 Hs.465870 INrf2|KIAA0132|KLHL19|MGC10630|MGC1114|MGC20887|MGC4407|MGC9454 cytosolic inhibitor of Nrf2|kelch-like ECH-associated protein 1|kelch-like protein 19 protein-coding 1316929 KEL Kell blood group, metallo-endopeptidase This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq] 1580863 8652402,20609202,7737196,1712490,15769748,19347978,18510579,18067501,17379193,16423827,16189514,15754970,15489334,13477267,12842980,12477932,11375401,11134029,10620363,10556484,10438732,9647734,8669078,7849312,7683930,7570911,2980265,7858266,19747286,20431033 3792 FN998902,NG_007492,AC099652,AF172627,AF279657,AM183928,AM183929,AM183930,AY228336,CH236959,CH471198,S80081,AK314831,AW294875,BC003135,NM_000420,BC050639,M64934,S76770 CBS91665,NP_000411,AAB33459,AAK69488,CAJ75457,CAJ75458,CAJ75459,AAO38053,EAW51891,EAW51892,EAW51893,AAB47018,BAG37351,AAH03135,AAH50639,AAA03192,AAB33389,P23276,Q06AK5,Q09GN6,Q0KH83,Q0KH84,Q0KH85,Q0KH86,Q0KH87,Q0KH88,Q0KH89,Q0KH90,Q0KH91,Q0KH92,Q0KH93,Q0KH95,Q0KH97,Q16297,Q2A680,Q2A681,Q2A682,ABM87775,ABW03867 Hs.368588 CD238|ECE3 kell blood group antigen|kell blood group glycoprotein protein-coding 1314078 KERA keratocan Keratan sulfate proteoglycans (KSPGs) are members of the small leucine-rich proteoglycan (SLRP) family. KSPGs, particularly keratocan, lumican (MIM 600616), and mimecan (MIM 602383), are important to the transparency of the cornea.[supplied by OMIM] 1580863,1600335,1600400 10802664,18620607,17679937,17558846,17011957,16760896,16335952,16157807,15489334,15370545,12477932,11726611,11683372,10899581,10828599,10565548,10416788,8889548,7601455,20357198,19834535,20360993 1600335,1600400 11081 NM_007035,AC078873,AF065988,CH471054,AF063301,AF205403,AK314990,BC032667,BM722433,CV571245,NG_021223 NP_008966,AAC17741,EAW97448,AAC16390,AAF69126,BAG37486,AAH32667,O60938,ABM81817,ABM84972 Hs.125750 CNA2|SLRR2B KTN|keratan sulfate proteoglycan keratocan|keratocan protein-coding 1353242 KERSMCR cytokeratin, Smith Magenis syndrome chromosome region 10615134,1694815 27168 1346346 KFM Klippel-Feil malformation 3793 1347758 KFSD keratosis follicularis spinulosa decalvans 3794 1606385 KGFLP1 keratinocyte growth factor-like protein 1 15809711,14702039,12477932 387628 NR_003674,AL590399,AF523265,AK054997,AY098593,BC101842,BC112977,BC112978,AK307215 CAI94896,AAM82158,AAM34503,Q2TVT4,Q8NFD4 Hs.439341 MGC125746|MGC125747|MGC126891 pseudo 1348536 KHDC1 KH homology domain containing 1 17913455,14702039,12477932,8889548 80759 NM_030568,AC019205,AL365232,CH471051,BC022080,BM725230,DB477180 NP_085045,CAI39831,CAI95051,EAW48776,EAW48777,EAW48778,EAW48779,EAW48780,AAH22080,Q4VXA5,Q5JSQ7 Hs.715645 C6orf148|MGC10818|NDG1|bA257K9.4 KH homology domain-containing protein 1|OTTHUMP00000196140 protein-coding 3340258 KHDC1L KH homology domain containing 1-like 12477932 100129128 AL365232,BC004267,NM_001126063 CAI39830,NP_001119535,Q5JSQ8 Hs.663639 KH homology domain containing 1-like|OTTHUMP00000163305|RP11-257K9.7|putative KHDC1-like protein protein-coding 734416 KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1 1580863 20876280,20936779,20610388,1374686,9045636,11278465,11585385,16341228,18377426,9013542,19150430,18957126,18394557,17855053,17764653,17371836,17179751,17081983,16795043,16710414,16568089,16362077,16179349,16169070,16083285,15782174,15701759,15635413,15619005,15489334,15231748,15021911,14702039,14647465,12529443,12496368,12482964,12478298,12477932,12370810,12370808,12134041,12112020,12029088,11932418,11604231,11483766,11437596,11254726,10962565,10951562,8702753,8576157,7799925,7537265,7516469,1545818,16236470,12163161,11960376,11118435,11604498,10635328,10913193,10820259,10805734,10749975,10748127,10564820,10564280,10467411,10437794,10371501,10332027,9872323,9804166,9743338,9564850,9362449,9315629,9315091,9201297,9010224,8995379,8985255,8810341,8766817,17643375,19041431,19091369,19254361,19535902,19615357,19755649,19912651,20028857,20186122,20186123 10657 NM_006559,AL139249,AL445248,CH471059,AK091346,AK293369,AK303218,AK312916,BC000717,BC010132,BC019109,CR593653,CR606103,CR616264,CR625346,M88108,U78971 NP_006550,CAI21971,CAI21972,CAH71944,CAH71945,EAX07574,EAX07575,EAX07576,EAX07577,BAC03643,BAG56883,BAG64305,BAG35762,AAH00717,AAH10132,AAH19109,AAA59990,AAB47504,Q07666,ABM86249 Hs.445893 FLJ34027|Sam68|p62 GAP-associated tyrosine phosphoprotein p62 (Sam68)|KH domain-containing, RNA-binding, signal transduction-associated protein 1|p21 Ras GTPase-activating protein-associated p62|p68|src associated in mitosis, 68 kda|src-associated in mitosis 68 kDa protein protein-coding 1349535 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 1580863 16189514,18029348,18464913,15345239,14702039,12549823,12529443,12477932,10077576,17207965,17643375 202559 NM_152688,AL049544,AL133459,AL138882,AL161440,AL355347,AL360220,AL391644,AL590202,CH471143,Z93021,AK095983,AK292043,AY077838,BC034043,BI597067,D60325 NP_689901,CAI19918,CAI19748,CAI14907,CAH70882,CAI15262,EAW88489,EAW88490,EAW88491,CAI21649,BAG53185,BAF84732,AAL77219,AAH34043,Q5VWX1,ADQ32350 Hs.519794 FLJ38664|MGC26664|SLM-1|SLM1|bA535F17.1 KH domain-containing, RNA-binding, signal transduction-associated protein 2|Sam68-like mammalian protein 1|hSLM-1 protein-coding 1354239 KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 1580863 10332027,18029348,17081983,16810759,16189514,15901763,15489334,15163637,12921630,12529443,12477932,11741900,11714634,11463515,11118435,10749975,10564820,10077576,16169070,17643375,19447967,19584924 10656 NM_006558,AC040914,AC104371,CH471060,AF051321,AF051322,AF069681,BC032606,BC068536,CR591014 O75525,ABM81812,ABM84967,NP_006549,EAW92182,AAC99294,AAC99295,AAC24857,AAH32606,AAH68536 Hs.444558 Etle|SALP|SLM-2|SLM2|T-STAR|TSTAR|etoile KH domain-containing, RNA-binding, signal transduction-associated protein 3|RNA-binding protein T-Star|Sam68-like phosphotyrosine protein, T-STAR|sam68-like mammalian protein 2 protein-coding 69145 KHK ketohexokinase (fructokinase) This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1300048,2302253,1580863 7833921,17353931,11256614,18029348,19237742,19158351,16381901,16372272,16344560,15489336,15489334,12941785,12477932,11076863,9799106,9373149,8889548,8662230,8125298,2996495,19913121,20628086 2302253 3795 NM_000221,NM_006488,NG_012199,AC013403,AJ005168,CH471053,Y09336,Y09340,Y09341,AB209518,AK130033,AK223075,BC006233,BM681082,BX648873,CR456801,CR591043,CR600808,CR603641,CR604516,CR608955,CR610051,CR612248,CR617023,CR618568,CR622392,CR622479,CR625259,DA068313,X78677,X78678 NP_000212,NP_006479,AAX93167,CAA06409,EAX00640,EAX00641,EAX00642,EAX00643,CAA70516,CAA70521,CAA70522,CAA70523,BAD92755,BAD96795,AAH06233,CAG33082,CAA55346,CAA55347,P50053,Q53G56,Q59FE2,Q6IBK2,CAL38164 Hs.567297 OTTHUMP00000200951|hepatic fructokinase|ketohexokinase protein-coding 1346854 KHRBP1 KH-type RNA binding protein 1 80711 1346672 KHSRP KH-type splicing regulatory protein 20639884,10911989,17353931,17474147,9136930,19198587,19003864,18583400,17908789,17177604,17081983,16964243,16648466,15606899,15514971,15175153,14657238,12477932,11719186,11003644,10781591,10087204,9858532,8940189,8889548,1602151,17643375,19458619,19585652,19775426,20332102 8570 NM_003685,AC011491,AC011539,AF093747,AF093748,CH471139,AA976482,AB209662,AK300957,BC009473,BC085004,BQ186683,CB216491,CF123311,DC388502,U69126,U94832 NP_003676,AAD29861,AAD29862,EAW69095,EAW69096,EAW69097,BAD92899,BAG62585,AAH85004,AAC50892,AAB53222,Q92945 Hs.726172 FBP2|FUBP2|KSRP|MGC99676 FUSE binding protein 2|FUSE-binding protein 2|KH type-splicing regulatory protein|far upstream element-binding protein 2|p75 protein-coding 4889219 KHSRPP1 KH-type splicing regulatory protein pseudogene 1 402359 AL355679,AL359922,NG_006557 pseudo 1318702 KIAA0020 KIAA0020 1580863 10942595,18029348,18093280,17558408,16344560,15635413,15489334,15164053,12477932,12429849,12135428,11790298,11148223,9373149,8125298,7584028,7584026,16169070,20353833 9933 NM_014878,AL354723,AL589675,CH471071,AF490254,AK225953,AK292169,AK315531,AL832239,AL832245,AY047588,AY047589,AY047590,BC016137,CR456957,CR605925,CR607424,D13645,DA358022 NP_055693,CAI15123,CAI12924,EAW58802,AAO85462,BAF84858,BAG37911,AAL06072,AAL06073,AAL06074,AAH16137,CAG33238,BAA02808,Q15397 Hs.493309 HLA-HA8|MGC8749|PEN|PUF6|RP11-526D20.2|XTP5 HBV X-transactivated gene 5 protein|HBV XAg-transactivated protein 5|KIAA0020 protein|minor histocompatibility antigen HA-8|penguin homolog|protein 5 transactivated by hepatitis B virus X antigen (HBxAg) protein-coding 2290033 KIAA0040 KIAA0040 16710414,15489334,12477932,7584028,7584026,16344560 9674 AL008626,CH471067,AK292691,AL049799,AL049800,BC020789,BC032361,BC050374,BC111699,CR602920,CR618094,CR625052,D25539,DA185535,DA337166,DA852435,DB232064,NM_001162893,NM_001162894,NM_001162895,NM_014656 EAW90987,EAW90988,EAW90989,EAW90990,EAW90991,BAF85380,CAB42560,CAB42561,BAA05022,Q15053,ABZ92279,NP_001156365,NP_001156366,NP_001156367,NP_055471 Hs.518138 FLJ75822|MGC133301 hypothetical protein LOC9674 protein-coding 2292468 KIAA0087 KIAA0087 16344560,12690205,12477932,11181995,9847074,7788527,16169070 9808 NR_022006,AC004947,CH236948,CH471073,BC128257,D42038,DB147006 AAQ96877,EAL24233,EAW93856,BAA07639,Q14695 Hs.69749 miscrna 1602125 KIAA0090 KIAA0090 17353931,16710414,16303743,15489334,14702039,12477932,7788527,20095854,20171287 23065 NM_015047,AL035413,AL357564,CH471134,AK025853,AK075563,AK124379,AK124740,AK291618,BC016303,BC034589,BX648627,BX648708,D42044 NP_055862,CAI22234,CAI22235,CAI22236,CAI22237,EAW94870,EAW94871,EAW94872,BAC11702,BAF84307,AAH34589,CAH56140,CAH56165,BAA07645,Q5TG59,Q5TG60,Q8N766 Hs.439200 RP1-43E13.1 OTTHUMP00000215527|hypothetical protein LOC23065 protein-coding 1605423 KIAA0100 KIAA0100 18549609,16289875,15489334,14702039,12477932,7788527 9703 AY943906,BC008591,BC048096,BC050440,BC103726,BC120873,CN482281,CR604364,CR626807,CR933634,D43947,NM_014680,AC005726,CH471159,AK130007,AK307216,AY288965 Q14667,AAY19515,AAH08591,AAH48096,AAI03727,AAI20874,CAI45940,BAA07891,Q08E86,NP_055495,EAW51112,EAW51113,EAW51114,EAW51115,BAC85274,AAQ93061 Hs.151761 BCOX|BCOX1|CT101|DKFZp686M0843|MGC111488|MGC134981 U937-associated antigen|antigen MLAA-22|breast cancer-overexpressed gene 1 protein|cancer/testis antigen 101|hypothetical protein LOC9703 protein-coding 1353661 KIAA0101 KIAA0101 1580863 17875765,18727915,19219066,12477932,11313979,7788527,18068894,16646990,16288740,15789362,15489334,15334068,17207965 9768 NM_001029989,NM_014736,AC087632,CH471082,AF529370,AK290748,AV757440,AY598324,BC005832,BC007101,BC016782,BG502841,CR595526,CR602847,CR604158,D14657 NP_001025160,NP_055551,EAW77679,AAQ09604,BAF83437,AAT06735,AAH05832,AAH07101,AAH16782,BAA03491,Q15004,ADQ32391 Hs.81892 KIAA0101|L5|NS5ATP9|OEATC-1|OEATC1|PAF|p15(PAF) HCV NS5A-transactivated protein 9|PCNA-associated factor|hepatitis C virus NS5A-transactivated protein 9|overexpressed in anaplastic thyroid carcinoma 1|p15PAF protein-coding 1603384 KIAA0114 KIAA0114 12477932,11752456,7788527,15489334 57291 NR_024031,AC104066,BC015222,BC045566,CR611723,D28589 P0C864 Hs.726170 KIAA00167 miscrna 1346014 KIAA0125 KIAA0125 14702039,12477932,8590280,3138112 9834 NG_001019,NR_026800,AB019441,CH471061,X97051,AK125627,AW451894,BC152473,D50915 EAW81976,BAA09474 Hs.649259 MGC176731 miscrna 1353765 KIAA0141 KIAA0141 1580863 10942595,15489334,15146197,14702039,12477932,8590280,17207965,20877624 9812 NM_014773,NM_001142603,AC005740,CH471062,AA760689,AK093504,AK292869,BC007855,BC010452,BC011269,BC011926,BC035486,CN307416,CR592769,CR598527,D50931 NP_055588,NP_001136075,EAW61899,BAF85558,AAH07855,AAH10452,AAH11269,AAH11926,BAA09490,Q14154,ADQ32459 Hs.210532 KIAA0141 OTTHUMP00000222778|hypothetical protein LOC9812 protein-coding 1603315 KIAA0146 KIAA0146 15858003,15502879,15489334,14702039,12477932,8590280 23514 NM_001080394,AC023991,AC024451,AC024649,AC104995,AC142471,AC233269,AK026929,AK055680,AK122820,AK293809,AK293972,AK294248,AK294275,AK297681,AK301677,AK303140,AK303579,AK309842,AK310584,BC015561,CR614430,D63480 NP_001073863,BAG51554,BAG57216,BAG57344,BAG57544,BAG57563,BAG60041,BAG63150,BAG64244,BAG64598,AAH15561,BAA09767,Q14159,AAI56772 Hs.381058 hypothetical protein LOC23514 protein-coding 1605407 KIAA0174 KIAA0174 16713569,10942595,19129480,19129479,19001599,18951430,16189514,15592455,15489334,14702039,12761501,12477932,8724849,20849418,20719964,19525971,17207965 9798 NM_014761,AC009127,CH471166,CQ834564,AB097052,AK057902,AK291388,AK293022,AK293040,AK295066,AK297336,AK301918,AL355695,BC000116,BC000430,BC004359,BC103745,CR592890,CR601400,CR608887,CR623090,D79996,AK297088 NP_055576,EAW59205,EAW59206,EAW59207,EAW59208,EAW59209,CAH05497,BAC77405,BAF84077,BAF85711,BAF85729,BAG58114,BAG59603,BAG59792,BAG63341,AAH00116,AAH00430,AAH04359,AAI03746,BAA11491,P53990,ADQ32167 Hs.232194 IST1|KIAA0174|MGC117220 IST1 homolog|hIST1|increased sodium tolerance-1|putative MAPK-activating protein PM28 protein-coding 1604378 KIAA0182 KIAA0182 16341674,16189514,15489334,15302935,15231747,12493763,12477932,19060904,8889548,8724849,16169070 23199 AC123908,CH471114,AK127344,AK308612,AW500000,BC000753,BC009854,BC037556,BG288870,BM451214,BM747744,BM979951,BQ214916,CR595977,CR616505,CR622627,D80004,H09100,NM_014615,NM_001134473 EAW95445,EAW95446,EAW95447,EAW95448,EAW95449,BAG54489,AAH00753,AAH09854,AAH37556,BAA11499,Q14687,Q59GZ0,NP_055430,NP_001127945 Hs.461647 GSE1 OTTHUMP00000175005|OTTHUMP00000201346|OTTHUMP00000201347|genetic suppressor element 1 protein-coding 1605409 KIAA0195 KIAA0195 20379614,16344560,15489334,15146197,14702039,12477932,9110174,8724849,8619474 9772 AK294526,AK304819,AK316060,NM_014738,AC100787,CH471099,AF070545,AK094864,AK128508,AK308160,BC042942,BC045540,CN307648,CR936809,D83779,DA193442,DB545285,H06743 BAG57737,BAG65567,BAH14431,NP_055553,EAW89274,EAW89275,EAW89276,EAW89277,AAC28636,AAH45540,BAA12108,Q12767 Hs.514474 DKFZp781M1056|FLJ37545|TMEM94 hypothetical protein LOC9772|transmembrane protein 94 protein-coding 1605096 KIAA0196 KIAA0196 17160902,16344560,15489334,14603436,12665801,12477932,9973294,9373149,8724849,8125298,20833645,20339536,19922875,20376207,20379614 9897 NM_014846,AC009908,AC126366,CH471060,AI266595,AK223628,AK291032,BC026951,BC106015,CR620759,D83780,DA185885,AK296970,NG_012636 NP_055661,EAW92080,EAW92081,EAW92082,BAD97348,BAF83721,AAH26951,AAI06016,BAA12109,Q12768,Q53EL1,BAG59514 Hs.270043 MGC111053|SPG8 WASH complex subunit strumpellin|strumpellin protein-coding 1353596 KIAA0226 KIAA0226 737633,4889529 20974968,16641997,16344560,15146197,12477932,11181995,9039502,20826435,15231748,19270693,19270696,19550146,20379614,20562859 737633,4889529 9711 NM_014687,NM_001145642,AC024560,CH471252,AK295625,BC014173,BC033615,BU501990,CN288121,CR601728,D86979,DA007321,DB036516,DB075342,BX647598 NP_055502,NP_001139114,EAW92238,EAW92239,BAG58502,AAH14173,AAH33615,BAA13215,Q5HYI6,Q8N4U6,Q92622,CAI46107,AAI60011 Hs.478868 RUBICON OTTHUMP00000208021|OTTHUMP00000208023|OTTHUMP00000208024|RUBICON|RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein|RUN domain protein as Beclin 1-interacting and cysteine-rich containing|baron|beclin-1 associated RUN domain containing protein|run domain Beclin-1 interacting and cystein-rich containing protein protein-coding 1602497 KIAA0232 KIAA0232 17081983,16344560,14702039,12477932,12168954,9039502,16169070,20936779 9778 NM_014743,NM_001100590,AC106045,CH471131,AF143884,AK124715,BC150286,BU618566,CR457160,CR613368,D86985,DA137144,DA652967,EF553521 NP_055558,NP_001094060,EAW82378,AAD32701,AAI50287,CAG33441,BAA13221,ABQ66267,Q92628,Q9Y349 Hs.79276 hypothetical protein LOC9778 protein-coding 1313851 KIAA0240 KIAA0240 20936779,14702039,14574404,12477932,12421765,9039502 23506 NM_015349,AL035587,AL353716,CH471081,AK091434,AK093526,AK128771,AK294706,AL833540,BC015724,BC033963,BC047630,BC130302,CR627378,D87077 NP_056164,CAI21488,CAI14820,EAX04102,BAH11853,AAI30303,CAH10475,BAA13246,Q6AI39 Hs.658033 DKFZp686P0250 OTTHUMP00000016407|hypothetical protein LOC23506 protein-coding 1349623 KIAA0247 KIAA0247 1580863 15489334,12477932,9039502,17207965,20236627 9766 NM_014734,AL133445,AL355837,CH471061,AK130809,AK309302,BC064697,D87434,DC346928 NP_055549,EAW81001,AAH64697,BAA13378,Q92537,ACE87298,ACE86617,ADQ32970 Hs.440025 KIAA0247 hypothetical protein LOC9766 protein-coding 1345091 KIAA0284 KIAA0284 737633 15489334,15146197,14702039,12508121,12477932,9179496,20562859,16712791 737633 283638 NM_015005,NM_001112726,AL583810,CH471061,AB006622,AK025023,AK091980,AK300834,AL537476,BC047913,BC112928,BU170784,CB156500,CN314060,CR596525,CR616886 NP_055820,NP_001106197,EAW81886,BAA22953,BAG52454,BAG62485,AAH47913,AAI12929,Q9Y4F5 Hs.533721 FAM68C|MGC131679 hypothetical protein LOC283638 protein-coding 1316884 KIAA0317 KIAA0317 1580863 15489334,12508121,12477932,9205841,20379614 9870 NM_001039479,AC007956,CH471061,AB002315,AK296912,AK304217,BC032944,BI459956,BX248747,CR600611 NP_001034568,AAF61276,EAW81186,BAA20775,BAG59467,BAG65089,AAH32944,CAD66554,O15033,Q86TS6 Hs.497417 hypothetical protein LOC9870 protein-coding 1348294 KIAA0319 KIAA0319 Reading disability, or dyslexia, is a major social, educational, and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to the disorder, with heritable variation estimated at 50 to 70% (see MIM 127700).[supplied by OMIM] 18063668,17846832,17597587,17450541,17033633,16600991,15717286,15514892,14574404,12834540,12477932,12421765,9915954,9205841,7939663,1354641,20846247,20923822,19588467,19419997,19362708,19325871,18829873,18810304,16344560,19679544,20068590,20943657 9856 NM_014809,AL031230,AL031775,AL512385,CH471087,AB002317,AF086065,AK295008,AK296310,AK296426,AK307503,AK310289,AL044313,BC140821,BC144628,BC152460,BX646625,DA316925,DA808234,NG_016206,NM_001168374,NM_001168375,NM_001168376,NM_001168377 NP_055624,CAI22601,CAH71730,EAW55455,EAW55456,EAW55457,BAA20777,BAG58068,BAG59008,BAG59087,AAI40822,AAI44629,AAI52461,Q5VV43,NP_001161846,NP_001161847,NP_001161848,NP_001161849 Hs.26441 DLX2|DYLX2|DYX2|MGC176717 KIAA0319|dyslexia susceptibility 2 protein-coding 1605339 KIAA0319L KIAA0319-like This gene is a candidate gene for dyslexia susceptibility. 19085271,14702039,12477932,11347906,19578796 79932 AC004865,AL356362,AL445211,CH471059,AB058740,AF275679,NM_024874,AF289597,AK024287,AK090878,AK097096,AK097107,AK302428,AK314605,AK316252,AL834315,AY163234,BC001858,BC007645,BC014530,BC031672,BX471865,CR620203,DC369564,AK126496 NP_079150,AAD05028,CAI22688,CAI22689,CAI22690,CAI23123,CAI23124,CAI23125,EAX07413,EAX07414,EAX07415,EAX07416,BAB47466,AAG24389,AAL55781,BAB14874,BAC03536,BAG63731,BAG37175,BAH14623,CAD38985,AAN61054,AAH01858,AAH07645,AAH14530,AAH31672,Q8IZA0,Q9H9L2 Hs.456507 FLJ44532|KIAA1837 OTTHUMP00000004590|OTTHUMP00000004591|dyslexia susceptibility 2-like|dyslexia-associated protein KIAA0319-like protein|polycystic kidney disease 1-related protein-coding 1316201 KIAA0323 KIAA0323 20800603,17081983,16344560,15489334,12477932,9205841,16712791,17114934,19561090 23351 NM_015299,AL132800,CH471078,AB002321,AK291680,BC015780,BC042554,BM464048,BX161465,CB115247,DA674601 NP_056114,EAW66013,EAW66014,EAW66015,BAA20781,BAF84369,AAH15780,AAH42554,CAD61924,O15037 Hs.713590 KIAA0323 KH and NYN domain-containing protein|protein KHNYN protein-coding 1318189 KIAA0355 KIAA0355 20215924,20379614,12477932,11337467,10737800,9205841 9710 NM_014686,AC010504,AC010614,AC016627,AC092080,AB002353,AU100313,BC017790,BC104761,BC104763,BC128232,BF760219 NP_055501,BAA20812,AAI04762,AAI04764,AAI28233,O15063 Hs.727650 hypothetical protein LOC9710 protein-coding 1322760 KIAA0367 KIAA0367 737633 16288218,17081983,15489334,15164053,12477932,12168954,9205841 737633 23273 Q58A63,Q5JUB9,Q5T473,Q5T474,Q5T475 CH471089,AB002365,AB050197,AL834213,AY439213,AY439214,NM_015225,AL161626,AL359314,BC022571 CAI10915,EAW62581,EAW62582,EAW62583,EAW62584,EAW62585,EAW62586,EAW62587,EAW62588,BAA20822,BAD93351,AAR15150,AAR15151,NP_056040,CAI39747,CAI39749,CAI39750,CAI39752,CAI10912,CAI10914,AAH22571,Q58A63,Q5JUB9,Q5T473,Q5T474,Q5T475 Hs.262857 A214N16.3|BMCC1|BNIPXL|bA214N16.3 protein-coding 1314598 KIAA0368 KIAA0368 737633 20682791,15496406,15489334,15302935,15164053,14702039,12477932,9205841,9110174,8619474,17353931,16189514,20562859,17643375,20379614 737633 23392 AL159168,AL354661,AB002366,AF052139,AK024705,AK025689,AK027063,AK122712,AK124590,AK127247,AK308313,BC021127,CR617979,NM_001080398 CAH73465,NP_001073867,CAH73240,CAH73241,BAA20823,BAG53684,BAG54464,AAH21127,Q5VYK3,Q5VYK5,AAI72431 Hs.368255 ECM29|FLJ22036|KIAA1962|RP11-386D8.2 ECM29 homolog, proteasome accessory protein|OTTHUMP00000021908|homolog of yeast Ecm29|proteasome-associated protein ECM29 homolog protein-coding 1312913 KIAA0391 KIAA0391 19624571,18984158,12477932,9205841,17114934,20953189 9692 NM_014672,AL121594,CH471078,AB002389,AK301931,AK303508,AK304066,BC001542,BC032221,BC044580,BX161394,BX161487,CR595114,CR596426 NP_055487,EAW65879,EAW65880,EAW65881,EAW65882,EAW65883,EAW65884,BAA20845,BAG63351,BAG64540,BAG64973,AAH32221,AAH44580,CAD61881,CAD61937,O15091,EAW65878 Hs.458487 MRPP3 mitochondrial RNase P protein 3|mitochondrial ribonuclease P protein 3 protein-coding 1605708 KIAA0406 KIAA0406 20810650,17081983,15489334,12477932,11780052,9455477,17643375,20427287,20800603 9675 NM_014657,AL109823,CH471077,BC131759,CR596340,CR607862,AB007866,AK308164,BC013121,BC013755,BC107778,BR000854 NP_055472,CAI19022,EAW76047,EAW76048,EAW76049,AAI31760,O43156,Q3B768,EAW76050,BAA23702,AAH13121,AAH13755,AAI07779,FAA00688 Hs.655481 KIAA0406 OTTHUMP00000030950|TEL2-interacting protein 1 homolog|Tel two interacting protein 1|Tel2 interacting protein 1 homolog protein-coding 1345855 KIAA0408 KIAA0408 16189514,15489334,14702039,14574404,12477932,9455477 9729 AL596809,CH471051,NM_014702,AL096711,AB007868,AK091424,AK125983,AK127114,BC018396,CR591062 EAW48095,NP_055517,CAB65988,BAA23704,BAG52357,BAC86375,AAH18396,Q6ZU52 Hs.319247 FLJ43995|RP3-403A15.2 OTTHUMP00000017174|hypothetical protein LOC9729 protein-coding 1626268 KIAA0415 KIAA0415 20613862,15489334,14702039,12853948,12690205,12477932,9455477,16189514,12107412,18029348 9907 NM_014855,AC092610,CH236953,CH471144,AB007875,AK092068,BC008841,BC014240,BC037399,BI766915,CR616696,CR617705,BQ228738,CD671081,NG_028111 NP_055670,EAL23965,EAW87294,EAW87295,EAW87296,EAW87297,EAW87298,EAW87299,BAA24845,AAH08841,AAH37399,O43299 Hs.558440 SPG48 hypothetical protein LOC9907 protein-coding 1350648 KIAA0427 KIAA0427 1580863 15489334,14702039,12477932,9455477,8889548,18029348,19648179,20379614 9811 NM_014772,NM_001142397,AC022919,AC048380,AC093567,CH471096,AB007887,AK095970,BC042146,BU688371 NP_055587,NP_001135869,EAW62925,EAW62926,EAW62927,EAW62928,BAA24857,BAG53180,AAH42146,O43310 Hs.145230 CTIF|Gm672|KIAA0427 CBP80/20-dependent translation initiation factor protein-coding 1605711 KIAA0430 KIAA0430 17081983,15932519,15616553,15489334,15146197,14702039,12477932,10493829,9455477,8889548,16344560 9665 AC026401,CH471226,U95740,AB007890,AB012134,AK095840,AK124564,AK302667,BC041135,BC064914,BC127740,BC137165,BC137170,BC139919,BC141831,BC144514,BC144515,BU607280,BX510172,CN310535,NM_014647,DB360504,NG_021407,NM_001184998,NM_001184999 NP_055462,EAW53920,EAW53921,EAW53922,EAW53923,AAC31662,BAA24860,BAB82433,BAG63901,AAH64914,AAI37166,AAI37171,AAI44515,AAI44516,Q9Y4F3,NP_001171927,NP_001171928 Hs.173524 A-362G6.1|LKAP limkain b1|limkain-b1 protein-coding 1603692 KIAA0467 KIAA0467 16710414,15489334,14702039,12477932,11181995,9455484 23334 BC041069,BC052802,BC082968,BC151232,AL117402,NM_015284,AL583862,CH471059,AB007936,AK001249,AK027078,AK126972,AK131107 CAB55903,AAH41069,AAH52802,AAH82968,AAI51233,Q5T011,NP_056099,EAX07095,EAX07096,EAX07097,EAX07098,BAA32312,BAB15649,BAC86771,BAC85157,CAI14886 Hs.643560 FLJ00408|FLJ10387|FLJ23425|RP11-506B15.3|SZT2|SZT2B hypothetical protein LOC23334|protein SZT2|seizure threshold 2 homolog B|seizure threshold 2 protein homolog protein-coding 1605111 KIAA0494 KIAA0494 17672918,15489334,14702039,12477932,9455484 9813 NM_014774,AL593856,CH471059,AA974135,AB007963,AK001487,BC002525,BC018842,CR606100,AK295722,AK296777 NP_055589,CAI16979,EAX06893,EAX06894,BAA32328,BAG50924,AAH02525,O75071,BAH12167,BAH12430 Hs.726158 RP11-8J9.3 hypothetical protein LOC9813 protein-coding 1625138 KIAA0495 KIAA0495 20477830,12477932,9455484 57212 NR_033708,NR_033709,NR_033710,NR_033711,NR_033712,AL136528,CH471130,AB007964,AL133648,BC013872,BC035073,BC044603,BC089039,BC093699,BC111984 EAW71471,EAW71472,EAW71473,EAW71474,CAB63767,AAH93699,AAI11985,Q9UF72 Hs.49658 MGC138189|PDAM miscrna 1351889 KIAA0513 KIAA0513 737633 17010949,15489334,12477932,9628581,9110174,8619474,18029348,20379614 737633 9764 NM_014732,AC026469,AC092341,CH471114,AB011085,AF055005,BC030280,CR609367,CR617707,U79288,AK299892 NP_055547,EAW95460,EAW95461,EAW95462,BAA25439,AAH30280,O60268,BAG61737 Hs.301658 hypothetical protein LOC9764 protein-coding 736134 KIAA0528 KIAA0528 17353931,17081983,15489334,15302935,12477932,9628581 9847 NM_014802,AC053513,CH471094,AB011100,AK295862,AK299353,AK310753,AY166851,BC042498,BC053885,BC117143,BC143859,BC143860,BC143878,BX648560 NP_055617,EAW96473,EAW96474,EAW96475,EAW96476,BAA25454,BAG58665,BAG61349,AAO17290,AAH42498,AAH53885,AAI17144,AAI43860,AAI43861,AAI43879,Q86YS7 Hs.271014 DKFZp779N2044 hypothetical protein LOC9847|phosphatidylinositol glycan, class l protein-coding 1604044 KIAA0556 KIAA0556 12477932,12421765,9628581,14702039,19727342 23247 NM_015202,AC002551,AC008732,AC016597,AC025275,AC092330,CH471145,AB011128,AK097485,AK295261,AK315974,BC041053,BC131508,BC150276,BX472933 O60303,NP_056017,EAW55743,BAA25482,BAC05073,BAG58250,BAH14345,AAI50277,Q8N803 Hs.460459 hypothetical protein LOC23247 protein-coding 1605416 KIAA0562 KIAA0562 16710414,16344560,15489334,12477932,9628581,7488117 9731 AL365330,AL691523,NM_014704,CH471130,AB011134,AK302190,AK308191,BC001640,BC026020,BC047450,BC050721,BM052650,DA081362,DA652315,DA482423 NP_055519,CAI42527,CAI42529,CAI17366,CAI17367,CAI17368,CAI17369,EAW71481,EAW71482,EAW71483,EAW71484,BAA25488,BAH13645,AAH01640,AAH47450,AAH50721,O60308 Hs.133089,Hs.509017 GlyBP|RP1-286D6.4 glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein protein-coding 1604630 KIAA0564 KIAA0564 20663923,12477932,14702039,12421765,9628581,19615732,20379614,20528957 23078 NM_015058,NM_001009814,AL160252,AL161417,AL163544,AL354833,AL442203,CH471075,AA648780,AB011136,AK025432,AK095155,AK308568,AL834181,BC042924,BC053674,BC131802 NP_055873,NP_001009814,CAI40564,CAI39490,CAI39491,CAI39586,CAH70372,CAH70373,EAX08665,EAX08666,EAX08667,BAA25490,BAG52993,CAD38878,AAH42924,AAH53674,AAI31803,Q5VW09,A3KMH1,CAI40169,CAI40170 Hs.368282 FLJ21779 OTTHUMP00000018323|hypothetical protein LOC23078 protein-coding 1323087 KIAA0586 KIAA0586 18029348,19144723,16702409,16344560,15489334,15146197,12477932,9628581 9786 AL135752,AL139021,CH471061,AB011158,AK302579,AK302635,AK302718,AK302836,AK310356,AL042761,AY359881,BC000900,BC066647,NM_014749,BX097526,CN281643,CN308043,CR621962,DB271535,DC348119 NP_055564,EAW80739,EAW80740,EAW80741,BAA25512,BAH13753,BAG63877,BAG63938,BAG64028,AAQ63404,AAH00900,AAH66647,Q6NYC6,Q6UV20,Q9BVV6 Hs.232532 Talpid3 ortholog of chicken talpid{3}|talpid3 protein protein-coding 1352865 KIAA0649 KIAA0649 737633 16053918,15231748,14702039,12477932,12421765,9734811 737633 9858 NM_014811,AL161452,CH471090,AB014549,AK022736,BC017511,BC047935,CR606520 NP_055626,CAI14051,CAI14052,EAW88150,EAW88151,BAA31624,AAH17511,AAH47935,Q5T8A6,Q5T8A7 Hs.533260 RP11-426A6.6 1A6/DRIM (down-regulated in metastasis) interacting protein|DRIM/UTP20 interacting protein|OTTHUMP00000022538 protein-coding 1602498 KIAA0652 KIAA0652 4889529 19287211,19258318,19225151,19211835,18936157,18339812,16344560,15489334,15169610,14702039,12477932,9734811,9373149,9110174,8619474,8125298,17207965,17204848,19597335,19690328,20562859,20694011 4889529 9776 BC006191,DA195671,NM_001142673,NM_014741,NR_024587,NR_024588,AC115088,AC127035,CH471064,AB014552,AF052175,AK000705,AK023867,AK223603,AK289641,AK293109,AK294110,AK296526,AK315925,BC001331,BC002378,NR_024589 AAH06191,O75143,Q53EN6,ADQ32740,NP_001136145,NP_055556,EAW67985,EAW67986,EAW67987,EAW67988,EAW67989,EAW67990,EAW67991,BAA31627,BAB14707,BAD97323,BAF82330,BAF85798,BAG57445,BAG59157,BAH14296,AAH01331,AAH02378,ACT64495,ACT64496 Hs.127403,Hs.725051 ATG13|FLJ20698|KIAA0652 autophagy-related protein 13 protein-coding 1601881 KIAA0664 KIAA0664 19913121,20628086,12421765,15489334,15302935,14702039,12477932,9734811 23277 NM_015229,AC005696,CH471108,AB014564,AK023003,AK074252,AK125717,AK308854,AW291521,BC004266,BC033614,BC063786,BX648864,CR590286,CR598422,CR627449 NP_056044,EAW90532,EAW90533,EAW90534,BAA31639,AAH04266,AAH33614,AAH63786,CAH10532,O75153,AAI56058,AAI56941 Hs.22616 CLU1|DKFZp686L05242|DKFZp686M09233|FLJ23672 hypothetical protein LOC23277 protein-coding 3516302 KIAA0664P1 KIAA0664 pseudogene 1 100418708 NG_004636,AC007742 pseudo 4109590 KIAA0664P2 KIAA0664 pseudogene 2 9847074 100418709 AC007241,NG_004636 pseudo 3516301 KIAA0664P4 KIAA0664 pseudogene 4 100418711 NG_022045,U85056 pseudo 3516295 KIAA0664P5 KIAA0664 pseudogene 5 100418745 AL845259,NG_022159 pseudo 1604048 KIAA0746 KIAA0746 protein 20708005,17457313,12477932,9872452,9847074,16169070,20379614 23231 AC020706,AC092436,AC133961,CH471069,AB018289,AK025282,AK123293,AK289687,AK300219,BC009945,BC029422,BC041046,BC060867,NM_015187,CR591434,CR749817,DB479874 NP_056002,EAW92843,EAW92844,BAA34466,BAF82376,BAG61987,AAH09945,AAH29422,AAH60867,CAH18677,Q68CR1 Hs.479384 DKFZp781J1697|FLJ21629|FLJ41299|KIAA0746|Sel-1L3 OTTHUMP00000218047|protein sel-1 homolog 3|suppressor of lin-12-like protein 3 protein-coding 1605107 KIAA0748 KIAA0748 12477932,9872452,19913121,20628086 9840 NM_001098815,NM_001136030,AC079842,CH471054,AB018291,AF161375,AK295026,AK298405,AK303223,AK315972,BC037220,BC044578,BC132732,BC132734,CR600998 NP_001092285,NP_001129502,EAW96799,EAW96800,EAW96801,BAA34468,AAF28935,BAG58082,BAG60635,BAG64310,BAH14343,AAH44578,AAI32733,AAI32735,A2RU30 Hs.33187 HSPC257 hypothetical protein LOC9840 protein-coding 1605106 KIAA0753 KIAA0753 16344560,12477932,9872452 9851 NM_014804,AC004706,AC015916,CH471108,AB018296,AK292876,AK296971,AK300547,AL080108,BC017566,BC113016,BC113017,CR597760,DB075150 NP_055619,EAW90303,BAA34473,BAF85565,BAH12465,BAH13302,CAB45712,AAI13017,AAI13018,Q2KHM9 Hs.28070 MGC130040|MGC130041 hypothetical protein LOC9851 protein-coding 2311475 KIAA0754 KIAA0754 9872452 643314 NM_015038,AL137853,AB018297,BF514886 NP_055853,BAA34474,O94854 Hs.658760 FLJ42354 hypothetical protein LOC643314 protein-coding 1346037 KIAA0774 KIAA0774 19543227,16189514,12477932,9872452,19806667,20379614,17207965 23281 BC129985,BC150245,BM906724,BU788127,BC119654,BC119655,NM_015233,AL160255,AL596092,AL596114,AL607144,CH471075,AB018317,AK293970,AK301633,AK302516,BC032481,NM_001033602 AAI19656,AAI29986,AAI50246,Q5JR59,AAH32481,AAI19655,NP_001028774,NP_056048,CAI41204,CAI40386,CAI39910,CAI39912,CAI40565,CAI40566,EAX08439,EAX08440,BAA34494,BAG57342,BAG63116,BAG63792,ADQ31667 Hs.22287 CAZIP|KIAA0774|TIP150 +TIP of 150 kDa|cardiac zipper protein|microtubule plus-end tracking protein TIP150|microtubule-associated tumor suppressor candidate 2|tracking protein of 150 kDa protein-coding 1319587 KIAA0776 KIAA0776 18029348,20531390,17353931,17081983,15489334,15342556,15302935,14574404,12477932,9872452,20164180 23376 NM_015323,AL132776,AL590404,CH471051,AB018319,AJ420579,AK295934,AK307651,AK316453,BC015377,BC028608,BC036379,BP337693,CR609694 NP_056138,CAI20401,CAH73710,EAW48506,EAW48507,EAW48508,BAA34496,BAG58719,BAH14824,AAH15377,AAH28608,AAH36379,O94874 Hs.149367 NLBP|RP3-393D12.1 E3 UFM1-protein ligase 1|LZAP-binding protein|novel LZAP-binding protein protein-coding 1348438 KIAA0802 KIAA0802 737633 18649358,17081983,16964243,16565220,16177791,15489334,14702039,14676191,12477932,9872452,19615732 737633 23255 NM_015210,AP000864,AP001531,AB018345,AK131528,BC040542,BX648455,BX648911 NP_056025,BAA34522,BAD18666,AAH40542,Q9Y4B5 Hs.650822 hypothetical protein LOC23255 protein-coding 1312148 KIAA0831 KIAA0831 4889529 19050071,18843052,17081983,15489334,14702039,12477932,10048485,19270696,20562859,20713597 4889529 22863 NM_014924,AL158801,AL356801,CH471061,AB020638,AK131251,AK292810,AL049978,BC028015,BC109089,BC109090,BR000826,HI573906 NP_055739,EAW80672,EAW80673,EAW80674,BAA74854,BAD18430,BAF85499,AAI09090,AAI09091,FAA00433,Q6ZNE5,CBX47442 Hs.414809 ATG14|ATG14L|BARKOR|KIAA0831|MGC126291|MGC126292 Barkor|Beclin 1-Interacting protein|autophagy-related protein 14-like protein|beclin 1-associated autophagy-related key regulator protein-coding 1318717 KIAA0892 KIAA0892 16682347,16802858,16368877,15489334,14702039,12477932,10048485,7829101,20379614 23383 NM_015329,AC003030,AC022543,CH471106,AB020699,AK001349,AK025285,AK025896,AK098275,AK125914,AK126227,AK128029,AL110250,BC010222,BC063863,BG149411,BG425236,BI492808,BU617329,BU619900,BY795974 NP_056144,AAD03161,EAW84814,EAW84815,EAW84816,EAW84817,BAA74915,BAC05274,BAC86343,BAC86497,BAC87236,CAB53698,AAH10222,Q6ZRS3,Q6ZU83,Q8N7K4,Q9Y4B3,Q9Y6X3 Hs.654939,Hs.713004 KIAA0892|MAU2L|MGC75361|SCC4|mau-2 MAU2 chromatid cohesion factor homolog|cohesin loading complex subunit SCC4 homolog|protein MAU-2|sister chromatid cohesion 4 protein-coding 1603687 KIAA0895 KIAA0895 16344560,12477932,10048485 23366 NM_015314,AC006960,CH236951,CH471073,AB020702,AK293912,AK294686,AK302559,AK302632,BC028678,BC056191,NM_001100425,BC063658,BC110422,BC136362,BC144032,BE463421,DB060820,DB462178,DC403070,DC403204,NM_001199706,NM_001199707,NM_001199708 NP_001093895,NP_056129,EAW94064,EAW94065,EAW94066,BAA74918,BAG57296,BAG57847,BAG63825,BAG63874,AAH28678,AAH56191,AAI10423,AAI36363,AAI44033,Q8NCT3,NP_001186635,NP_001186636,NP_001186637 Hs.6224 OTTHUMP00000206979|OTTHUMP00000206980|hypothetical protein LOC23366 protein-coding 2302259 KIAA0895L KIAA0895-like 14702039,12477932 653319 NM_001040715,AC040160,AC074143,CH471092,AK092303,AK094787,AK096855,AL834156,BC007594,BC080183,BC128539,BX460002 NP_001035805,EAW83091,BAC03856,CAD38862,AAH07594,AAH80183,AAI28540,Q68EN5 Hs.651201 hypothetical protein LOC653319 protein-coding 1605086 KIAA0907 KIAA0907 18029348,16189514,12477932,10048485,9373149,8125298,19641227 22889 NM_014949,AL355388,CH471121,AB020714,AK225714,AK289902,AY112680,AY112681,AY112682,BC027182,BC062637,CR602947 NP_055764,CAH72623,CAH72624,CAH72625,EAW53021,EAW53022,EAW53023,BAA74930,BAF82591,AAM51855,AAM51856,AAM51857,AAH27182,AAH62637,Q7Z7F0 Hs.24656 BLOM7|RP11-336K24.1 nuclear ribonucleoprotein K homology domain protein protein-coding 1344378 KIAA0913 KIAA0913 16713569,15197164,14702039,12477932,12107410,10737800,10048485,16385451 23053 AC022400,CH471083,AB020720,AK023742,AK091621,AK309136,AL133662,AW997845,BC036835,BC040726,BC063694,BC111006,BC117205,BC137249,BC137250,BC151206,BM193415,CA390537,CF272587,CR610954,NM_015037 NP_055852,EAW54521,EAW54522,EAW54523,EAW54524,BAA74936,BAB14664,BAC03709,AAH36835,AAH40726,AAH63694,AAI11007,AAI17206,AAI37250,AAI37251,AAI51207,A7E2V4,Q8N420,AAI56551 Hs.65135 FLJ34302|MGC168869|MGC168870 4832404P21Rik|OTTHUMP00000019837|hypothetical protein LOC23053 protein-coding 1604047 KIAA0922 KIAA0922 16344560,14702039,12477932,11230166,10231032 23240 NM_001131007,NM_015196,AC106865,AC116648,CH471056,AB023139,AK001454,AK092270,AK096538,AK128028,AK308448,AL136932,BC044932,BC131505,BQ270562,DA778851 NP_001124479,NP_056011,EAX04956,EAX04957,EAX04958,EAX04959,BAA76766,BAG50915,BAG52515,BAG53317,CAB66866,AAH44932,AAI31506,A2VDJ0 Hs.205572 DKFZp586H1322|FLJ10592|TMEM131L OTTHUMP00000205136|transmembrane protein 131-like protein-coding 2311267 KIAA0947 KIAA0947 14702039,12477932,10231032,19615732 23379 NM_015325,AC010253,AC012607,AC091978,AB023164,AK024400,AK025279,AK095073,AK096615,AK130025,AL137260,AL832204,BC004902,BC041002,BX538020,CR749441 NP_056140,BAA76791,CAB70661,AAH04902,CAD97966,CAH18279,Q9Y2F5 Hs.449296 DKFZp781J2344 hypothetical protein LOC23379 protein-coding 1316522 KIAA1009 KIAA1009 16302001,14702039,12522145,12477932,11827452,10231032,11521196,17353931,18029348 22832 NM_014895,AL138742,CH471051,AB023226,AK023613,AK308190,AW069289,BC063632,DC424230 NP_055710,CAI22698,CAO03537,EAW48644,EAW48645,BAA76853,BAG51210,Q5TB80,AAI66703 Hs.485865 C6orf84|FLJ13551|QN1 OTTHUMP00000016806|chromosome 6 open reading frame 84|protein QN1 homolog protein-coding 1319254 KIAA1012 KIAA1012 1580863 16344560,15345747,14702039,12477932,11805826,11230166,10727015,10231032,20562859 22878 NM_014939,AC009831,AC022960,CH471088,AA598869,AB023229,BC059380,BC127109,BC127110,BX642999,DA446379,AK001662,AK292537,AL136749 NP_055754,EAX01271,EAX01272,EAX01273,EAX01274,EAX01275,EAX01276,BAA76856,AAH59380,AAI27110,AAI27111,Q6PCC9,Q9Y2L5,BAG50957,BAF85226,CAB66683 Hs.202001 GSG1|HsT2706|KIAA1012|MGC71660|TRS85 general sporulation gene 1 homolog|protein TRS85 homolog|trafficking protein particle complex subunit 8 protein-coding 1604043 KIAA1024 KIAA1024 12477932,12168954,10470851,9110174,8619474 23251 NM_015206,AC105231,CH471136,AB028947,AF035294,BC144700,BC152466 NP_056021,EAW99137,BAA82976,AAI52467,Q9UPX6,AAI60103 Hs.301654 hypothetical protein LOC23251 protein-coding 2291767 KIAA1024L KIAA1024-like 15372022 100127206 XM_001721301,AC008591,CH471062,DR731264 XP_001721353,EAW62380,P59773 Hs.582534 hypothetical protein LOC100127206 protein-coding 1604041 KIAA1026 kazrin 19727525,20379614,19843585,18840647,18519826,15337775,14702039,16713569,16344560,12477932,10470851,9110174,8619474 23254 NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999,AL031293,AL031732,AL034395,AL035405,AL391215,AL445263,CH471167,AB015329,AB028949,AF052120,AK057155,AK125388,AK293806,AY505119,AY505120,AY505121,AY505122,BC035501,BC101637,BC113621,BC143641,BI916330,DA317442,DN831635,DR003677 NP_963922,NP_056024,NP_001018000,NP_001018001,NP_001017999,CAQ08073,CAI19827,CAQ07836,CAQ07837,CAI13899,CAQ06786,CAQ06787,EAW51704,BAA88115,BAA82978,BAG57213,AAS86434,AAS86435,AAS86436,AAS86437,AAH35501,AAI01638,AAI13622,AAI43642,Q674X7 Hs.368823 DKFZp686D08115|FLJ10199|FLJ32593|FLJ43398|FLJ43806|KIAA1026|MGC126686|MGC142181|RP1-21O18.1 OTTHUMP00000221581|kazrin protein-coding 1603694 KIAA1033 KIAA1033 15489334,14702039,12477932,10470851,19922875,20376207 23325 AK001657,AK001728,AK023146,AK026950,AK027218,AL137753,BC012556,BC031358,BC040936,BC104992,BC104994,BC110850,BC143373,AF075010,NM_015275,AC016257,CH471054,AB028956 BAA91816,AAH31358,AAH40936,AAI04993,AAI04995,AAI10851,AAI43374,Q2M389,BAA82985,NP_056090,EAW97758,EAW97759,EAW97760,EAW97761 Hs.12144 WASH complex subunit 7 protein-coding 1342853 KIAA1045 KIAA1045 1580863 15164053,12477932,10470851 23349 NM_015297,AL355377,CH471071,AB028968,AK294342,AL137621,AY956806,AY956807,AY956808,BC041169 NP_056112,CAI13804,EAW58408,BAA82997,BAH11739,AAX51884,AAX51885,AAX51886,Q58FF1,Q9UPV7 Hs.7989 DKFZp434I2112|RP11-392A14.4 hypothetical protein LOC23349 protein-coding 1604036 KIAA1107 KIAA1107 12477932,10470851 23285 NM_015237,AC104836,AB029030,AF017090,AK302496,BC037317,BX108841,DC331933,EG328259 NP_056052,BAA83059,AAC28132,BAG63780,AAH37317,Q9UPP5 Hs.21554 hypothetical protein LOC23285 protein-coding 1344341 KIAA1109 KIAA1109 737633 20453842,18311140,17999365,17558408,16545529,16386706,14702039,12477932,10718198,10470851,9373149,8125298,19302705,16632497,17554300,18418394,18840430,19061490,19430480,19455118,20190752,20197757,20553587 737633 84162 NM_015312,AC022489,AC104658,AC127089,AB029032,AB037792,AK024043,AK025057,AK095216,AK124902,AK127686,AK127698,AK129931,AK225886,AK303483,AK309063,AL137254,AL137384,AL137532,AL833461,BC018094,BC032408,BC045783,BC108274,CR621256,CR936613,DQ335469,CA413044,CH471056,NG_015813 NP_056127,AAY41044,BAA83061,BAA92609,BAG51255,BAB15057,BAC85988,BAC87084,BAG54552,BAG64519,CAB70656,CAB70718,CAB70795,AAH18094,AAH45783,AAI08275,CAI56756,ABC59821,Q2LD37,EAX05239,EAX05240,EAX05241 Hs.408142 DKFZp781P0474|FSA|MGC110967 OTTHUMP00000196356|fragile site-associated protein protein-coding 1606528 KIAA1143 KIAA1143 17081983,16344560,15489334,12477932,10574461,8889548 57456 BU741967,CR591210,CR613386,DA183520,DA192476,NM_020696,AC098649,CH471055,CS300590,AB032969,AK289549,BC008468,BC016790,BC070360 Q96AT1,NP_065747,EAW64722,EAW64723,CAK32254,BAA86457,BAF82238,AAH08468,AAH16790 Hs.476082 hypothetical protein LOC57456 protein-coding 1603618 KIAA1147 KIAA1147 12477932,10574461 57189 NM_001080392,AC004918,CH236950,CH471070,AB032973,AF116707,AF136629,BC012493,AC211775 NP_001073861,EAL24019,EAW83974,BAA86461,AAF71127,A4D1U4,Q9P1C9,AAI56554,AAI72537,AAH12493 Hs.521240 LCHN|PRO2561 OTTHUMP00000212268|predicted protein of HQ2561|protein LCHN protein-coding 1320364 KIAA1161 KIAA1161 19204726,12477932,10574461 57462 NM_020702,AL356494,CH471071,AB032987,BC070098,BC110493,CB988183 NP_065753,CAI15965,CAI15966,EAW58460,BAA86475,AAH70098,AAI10494,Q6NSJ0 Hs.522083 NET37 OTTHUMP00000021254|hypothetical protein LOC57462 protein-coding 1601743 KIAA1191 KIAA1191 18541383,12477932,10574461,10565538,9373149,16169070,18482256,8125298,17207965 57179 NM_001079685,NM_001079684,NM_020444,AC138956,CH471195,AB033017,AK315428,AL390217,AL567350,AL832558,BC006316,BC010448,BC012848,BC017097,BX648859,CR457331,CR614367,DQ073392 NP_001073153,NP_001073152,NP_065177,EAW85087,EAW85088,EAW85089,EAW85090,EAW85091,EAW85092,EAW85093,EAW85094,EAW85095,EAW85096,BAA86505,BAG37816,CAB99231,AAH06316,AAH10448,AAH12848,AAH17097,CAH56134,CAG33612,AAY82896,Q96A73,ACE87376,ACE86692,ADQ31901 Hs.727519 FLJ21022|KIAA1191|p60MONOX brain-derived rescue factor p60MONOX|hypothetical protein LOC57179 protein-coding 1313176 KIAA1199 KIAA1199 20379614,19434458,16406369,16157444,12477932,12471561,12421765,11247670,10574462,15489334,14577002 57214 AC023302,AC027808,CH471136,AB033025,AB103330,AK000465,AK026540,AK027058,AL049389,AL109718,AL359061,AY007811,BC020256,NM_018689 NP_061159,EAW99111,BAA86513,BAD02451,CAB94391,AAG41059,AAH20256,Q8WUJ3 Hs.459088 CCSP1|TMEM2L KIAA1199|colon cancer secreted protein 1|transmembrane protein 2-like protein-coding 2301934 KIAA1210 KIAA1210 18029348,15772651,10574462 57481 NM_020721,AL441887,AL590376,AL772284,AB033036,BX099098,DT932686,DV080213 NP_065772,BAA86524,Q9ULL0,CAI41521,CAX11955 Hs.97594 RP13-347D8.3 hypothetical protein LOC57481 protein-coding 2303430 KIAA1211 KIAA1211 14702039,12477932,11230166,10574462 57482 AC022267,AC068620,AB033037,AK097530,AK126014,NM_020722,AK302486,AL110138,AL133028,AL137336,BC144536,BC150615,BC171783 NP_065773,BAA86525,BAC86392,BAG63771,CAB61360,CAB70699,AAI44537,AAI50616,AAI71783,Q6ZU35,AAI67851 Hs.596667 DKFZp564H1363 OTTHUMP00000218888|hypothetical protein LOC57482 protein-coding 1352431 KIAA1217 KIAA1217 737633 19338451,16189514,14702039,12477932,10574462,20125193,20379614,20585627 737633 56243 NM_019590,NM_001098501,AC063961,AL157781,AL353583,AL353650,AL355977,AL356113,AL356477,AL391499,AL392104,CH471072,AB033043,AB291616,AK021984,AK024199,AK055179,NM_001098500,AK091142,AK096446,AK125675,AK300422,AK303905,AL157473,AL833280,BC017424,BC018764,BC098577,BC136521,BC144227,BX640796,BX648451 NP_001091970,NP_062536,NP_001091971,CAI12211,CAI12212,CAI12213,CAI12214,CAI12216,CAI14084,CAI14085,CAI14086,CAI14087,CAI40179,CAI40182,CAI40183,CAO03477,CAO03478,CAO03479,EAW86123,EAW86124,EAW86125,BAA86531,BAF63529,BAC86241,BAG62149,BAG64835,CAB75668,AAH18764,AAH98577,AAI36522,AAI44228,CAE45879,Q5T5P0,Q5T5P1,Q5T5P2 Hs.445885 DKFZp761L0424|MGC31990|RP11-324E23.1|SKT OTTHUMP00000019313|OTTHUMP00000019314|OTTHUMP00000019317|OTTHUMP00000019318|OTTHUMP00000196692|OTTHUMP00000196693|OTTHUMP00000196694|likely orthologue of Mus musculus enhancer trap locus 4|sickle tail protein homolog protein-coding 1603624 KIAA1219 KIAA1219 17474147,16490346,15489334,15302935,14702039,12477932,12168954,11780052,10574462,19520869 57148 NM_020336,AL035419,AL049868,CH471077,AB033045,AK026771,AK123576,AK125260,AK125916,AK304242,AL132998,AL834436,BC010916,BC018668,BC036425,BC047482,BX641080,CR936800 NP_065069,CAM27455,CAM27456,CAM27457,CAI23368,CAM28344,CAM28345,EAW76018,EAW76019,EAW76020,EAW76021,EAW76022,EAW76023,EAW76024,BAA86533,BAC85649,BAG54177,BAG65110,CAB61346,CAD39096,AAH10916,AAH18668,AAH47482,CAE46039,Q6MZJ2,Q86X10 Hs.598850 DKFZp686N19168|DKFZp781M2411|FLJ43270|FLJ43928|KIAA1219|RP5-1100H13.1|RalGAPbeta|dJ1100H13.1 OTTHUMP00000178925|p170|ral GTPase-activating protein beta subunit|ral GTPase-activating protein subunit beta protein-coding 1603203 KIAA1239 KIAA1239 10574462,9847074,20379614 57495 NM_001144990,AC022463,AC104690,AC107400,AB033065 NP_001138462,BAA86553,Q9ULI1 Hs.4280 hypothetical protein LOC57495 protein-coding 1320499 KIAA1244 KIAA1244 8889548,19496786,14702039,12477932,10737800,10574462 57221 AK056626,BC022980,BU682567,NM_020340,AL031003,AL031433,AL391240,CH471051,AB033070,AB252196,AF413080,AK000682,AK021955,AK124312,AW300603,BC137174,BF332780,BF744369,BF943924,BX640863,DT932721 AAH22980,Q8TBB3,NP_065073,CAM28244,CAI19661,CAM28242,EAW47918,BAA86558,BAH83562,AAL04174,AAI37175,CAE45924,Q5TH69,Q6MZV3 Hs.194408 A7322|ARFGEF3|BIG3|C6orf92|FLJ32064|RP3-422G23.4|big3|dJ171N11.1|dJ55C23.6 brefeldin A-inhibited guanine nucleotide-exchange protein 3 protein-coding 1604742 KIAA1245 KIAA1245 12477932,11948409,10574462,9110174,8619474 149013 AB033071,AL359176,XM_003119142,XM_003119143,XM_003119144,XM_003119145,XM_003119146,XM_003119147,XM_003119148,XM_003119149,XM_003119150,XM_003119151,XM_003119152,XM_003119153,XM_003119154,XM_003120158,XR_110823 BAA86559,XP_003119190,XP_003119191,XP_003119192,XP_003119193,XP_003119194,XP_003119195,XP_003119196,XP_003119197,XP_003119198,XP_003119199,XP_003119200,XP_003119201,XP_003119202,XP_003120206 Hs.515947 COAS1 KIAA1245|chomosome one amplified sequence 1 cyclophilin|chromosome 1 amplified sequence 1|hypothetical protein LOC149013 protein-coding 1603021 KIAA1257 KIAA1257 18579725,16344560,14702039,12477932,10574462,20379614 57501 AC112484,AB033083,AK056377,BC031632,BC038736,DB086263,DB095211,NM_020741 NP_065792,BAA86571,AAH31632,AAH38736,Q9ULG3 Hs.518247 OTTHUMP00000217115|OTTHUMP00000217116|hypothetical protein LOC57501 protein-coding 1605247 KIAA1267 KIAA1267 15960975,19915575,16189514,18029348,11256614,18509094,19854137,20936779,16227571,16344560,15489336,15489334,15302935,16381901,14702039,12477932,11641718,11230166,11076863,10574462 284058 AC127032,AC217772,AC217773,AC217779,CR936218,NM_015443,AC004139,AC005829,CH471233,AB033093,AK094946,AK291259,AL117476,AL137317,BC035892,BC098376,BX538006,BX648760,AI253068,DA010621,NM_001193465,NM_001193466 NP_056258,EAW93576,EAW93577,BAA86581,BAG52961,BAF83948,CAB55949,CAB70694,AAH35892,AAH98376,CAD97958,CAH10565,Q7Z3B3,CAL37692,CAL38562,NP_001180394,NP_001180395 Hs.648744 DKFZp686P06109|DKFZp727C091|MGC102843|MSL1v1 hypothetical protein LOC284058|male-specific lethal 1 homolog protein-coding 1346451 KIAA1274 KIAA1274 19240061,15146197,14702039,12477932,10574462,19727444 27143 NM_014431,AC022532,AL355344,CH471083,AB033100,AK021806,BC015004,BC040163,BC048195,BC136375,BC136376,CN335744 NP_055246,CAI41274,CAI41275,EAW54404,EAW54405,EAW54406,BAA86588,AAI36376,AAI36377,Q9ULE6 Hs.202351 PALD OTTHUMP00000019757|paladin|palladin protein-coding 1317800 KIAA1279 KIAA1279 16344560,16385451,16225668,16189514,17353931,16713569,15883926,15489334,15164054,12477932,10574462 26128 AI491993,DA292451,NG_017061,NM_015634,AL359844,CH471083,AA913814,AB033105,AK291343,AL050190,BC006427,BC012180,CR593211 NP_056449,CAH72378,EAW54308,BAA86593,BAF84032,CAB43311,AAH12180,Q96EK5 Hs.279580 DKFZp586B0923|KBP|TTC20 KIF1-binding protein protein-coding 1345252 KIAA1305 KIAA1305 1580863 14702039,12477932,10718198,16713569,17114934,19561090 57523 NM_025081,AL132800,AB037726,AK021873,BC008219,BC065283,BX248773,CR596800 NP_079357,BAA92543,BAB13925,AAH08219,AAH65283,CAD66580,Q96HR4,Q9P2P1 Hs.288348 CGIN1|FLJ11811|KIAA1305 Cousin of GIN1|NYN domain and retroviral integrase catalytic domain-containing protein|protein NYNRIN|protein cousin of GIN1 protein-coding 1604339 KIAA1310 KIAA1310 16381901,16344560,15489336,15302935,14702039,12477932,11256614,11230166,11076863,10718198,16169070 55683 NM_017991,NM_001115016,AC079754,CH471207,AB037731,AF311326,AI824694,AK000943,AK023813,AK074379,AK091163,AK302646,AK304011,AK311617,AK314367,AL136849,AY050169,BC015469,BC024276,BC032746,BC051763,BC063792,BC127820,CR602875,CR606028,DB276915 NP_060461,NP_001108488,AAX88890,EAW71347,EAW71348,EAW71349,EAW71350,EAW71351,EAW71352,EAW71353,EAW71354,EAW71355,EAW71356,EAW71357,EAW71358,BAA92548,AAG33852,BAA91437,BAB14688,BAG63887,BAG64926,BAG36997,CAB66783,AAL13159,AAH15469,AAH32746,AAH51763,AAH63792,AAI27821,Q9P2N6,CAL37956,CAL38587 Hs.516341 FLJ10081|FLJ23799|KIAA1310|Rcd1 OTTHUMP00000207554|OTTHUMP00000207555|OTTHUMP00000207556|OTTHUMP00000207557|OTTHUMP00000207558|hypothetical protein LOC55683|serum inhibited-related protein|testis development protein PRTD protein-coding 1606254 KIAA1324 KIAA1324 16322283,16344560,14702039,12975309,12477932,10718198,17475571,20379614,16712791 57535 AK304003,AY358366,BC031648,BC125208,CB142078,CD108482,DA998586,DC402202,AK301598,AL138933,AL356389,CH471122,AB037745,AI923722,AJ512825,AJ512826,AK026832,AK057647,AK122934,AK297221,AK297478,NM_020775 BAG63086,BAG64920,AAQ88732,AAI25209,Q6UXG2,Q70WY4,NP_065826,CAI22280,CAI13596,CAI13597,CAI13598,EAW56359,EAW56360,EAW56361,EAW56362,EAW56363,BAA92562,CAD55147,CAD55148,BAG59704,BAG59899 Hs.708190 EIG121|MGC150624|RP11-352P4.1 OTTHUMP00000013429|OTTHUMP00000013430|OTTHUMP00000013431|estrogen induced gene 121|estrogen-induced gene 121 protein|hypothetical protein LOC57535|maba1 protein-coding 1603535 KIAA1324L KIAA1324-like 14702039,12690205,12477932,16344560,8889548 222223 NM_001142749,NM_152748,AC000122,AC002081,AC004519,CH236949,CH471091,AI797353,AK055902,AK296250,AK303619,BC117309,BX346336,DB500778,DY654933,BM675231,DA240191,DB502291,NR_030672 NP_001136221,NP_689961,EAL24181,EAW76969,BAB71041,BAG58965,BAG64628,AAI17310,A8MWY0 Hs.208093 EIG121L|FLJ31340 EIG121-like|OTTHUMP00000204999|OTTHUMP00000205050|OTTHUMP00000205051|hypothetical protein LOC222223 protein-coding 1343837 KIAA1328 KIAA1328 15489336,12477932,11230166,11076863,10718198,16381901,15656913,20936779 57536 NM_020776,AC009854,AC015961,AC016493,AC023577,CH471088,AB037749,AK292288,AK304230,AL832625,BC008670,BC037903,BC045585,BX648875 NP_065827,EAX01387,BAA92566,BAF84977,BAG65099,CAD89947,AAH08670,AAH37903,Q86T90,CAL37981,CAL38258,AAI46692 Hs.4045 hinderin protein-coding 1606264 KIAA1370 KIAA1370 20936779,16344560,12477932,10718198,14702039 56204 NM_019600,AC009754,AC025917,CH471082,AB037791,AK001842,AK292917,AK293730,AK293920,AK308049,AK308855,AL832519,BC040548,BC058839,BC073908,BC083498,BC109127,BC109128,DB227522 NP_062546,EAW77457,EAW77458,EAW77459,EAW77460,BAA92608,BAA91936,BAF85606,BAG57156,BAG57301,CAH56350,AAH58839,AAH73908,AAH83498,AAI09128,AAI09129,Q32MH5,Q658Z0,Q6DKH7,AAH40548 Hs.152385 FLJ10980|MGC126494|MGC126495 hypothetical protein LOC56204 protein-coding 1606251 KIAA1377 KIAA1377 12812986,15383276,16169070,15489334,14702039,12477932,12107411,10718198,8889548 57562 NM_020802,AP003383,CH471065,AB037798,AK057230,AK095004,AK296350,AK310418,AL045516,BC036525,BC146807,BM690026,BQ267650,BQ637903,BU785174,BX647415,CA848462,DB455438 NP_065853,EAW67007,EAW67008,BAA92615,BAG52970,BAG59033,Q9P2H0,AAI67859 Hs.156352 hypothetical protein LOC57562 protein-coding 1607026 KIAA1383 KIAA1383 17081983,16710414,15489334,12477932,10718198 54627 NM_019090,AL451083,CH471098,AB037804,AK290216,BC036663,BC109122 NP_061963,CAH72001,EAW69975,BAA92621,BAF82905,AAH36663,AAI09123,Q9P2G4 Hs.160373 FLJ75125|MGC126467 OTTHUMP00000035938|hypothetical protein LOC54627 protein-coding 1350923 KIAA1407 KIAA1407 10718198,12477932 57577 NM_020817,AC092896,AC128687,CH471052,AB037828,AF509494,AK125304,AK295855,AK302488,BC150592 NP_065868,EAW79615,BAA92645,AAM34297,BAG58661,BAG63773,Q8NCU4,AAI67836 Hs.477159 FLJ43314 hypothetical protein LOC57577 protein-coding 1322833 KIAA1409 KIAA1409 14702039,10718198,17353931,20158304,20379614 57578 NM_020818,AL122023,AL136338,AL157858,CH471061,AB037830,AK090721,AK125327,AK126626,BX649040 NP_065869,EAW81531,BAA92647,BAC86131,Q9P2D8 Hs.126561 FLJ43337 OTTHUMP00000070354|protein unc-79 homolog protein-coding 1603673 KIAA1429 KIAA1429 15302935,15009096,14702039,12477932,10718198 25962 NM_183009,AC023632,CH471060,AB037850,AF116724,AK000668,AK022906,AL117434,AL832487,BC003701,BC053875,BC069239,BC112288,BC113380,BM462567,CD108987,CR620832,CR627454,NM_015496,AA731668 NP_056311,NP_892121,EAW91715,EAW91716,EAW91717,BAA92667,AAO15300,BAA91316,BAB14301,CAB55922,CAH10773,AAH03701,AAH69239,AAI12289,AAI13381,Q69YN4,CAH10535 Hs.202238,Hs.599800 DKFZp434I116|DKFZp781B2117|MGC138493|MGC141940|MSTP054|fSAP121 functional spliceosome-associated protein 121|protein virilizer homolog protein-coding 1316452 KIAA1430 KIAA1430 737633 14702039,12477932,10718198 737633 57587 NM_020827,AC073344,AC093592,CH471056,AB037851,AK024878,AK091993,AK130263,AL133615,AV709118,BC020772,BC030535 NP_065878,AAY40976,EAX04653,EAX04654,BAA92668,BAG52459,CAB63743,AAH20772,AAH30535,Q9P2B7 Hs.535734 DKFZp434F1728|FLJ21225 hypothetical protein LOC57587 protein-coding 1320674 KIAA1432 KIAA1432 16112082,14702039,12477932,11230166,10718198 57589 NM_001135920,NM_020829,AL136980,AL354744,CH471071,AB037853,AB205401,AK022642,AK074150,AK124394,AL136875,BC023535,BC030576,BC041044,BC136616,BC144296,R44399 NP_001129392,NP_065880,CAI95003,CAI95004,EAW58759,EAW58760,EAW58761,BAA92670,BAE16982,BAB14150,BAB84976,CAB66809,AAH30576,AAI36617,AAI44297,Q4ADV7 Hs.211520 CIP150|FLJ12580|bA207C16.1 OTTHUMP00000214991|connexin 43-interacting protein 150 kDa|connexin-43-interacting protein of 150 kDa|protein RIC1 homolog protein-coding 1346091 KIAA1462 KIAA1462 737633 21088011,19204726,14702039,12477932,10819331 737633 57608 CB988996,NM_020848,AL158036,CH471072,AB040895,AK055602,AK074200,AL050154,AL583916,BC047548,BC071601,BC153865,BX648192,BX648263,BX648773,CR626438,AK308850 NP_065899,CAI17240,EAW86016,EAW86017,BAA95986,CAC29500,AAH47548,CAI46027,Q9P266 Hs.533953 OTTHUMP00000019390|hypothetical protein LOC57608 protein-coding 1605976 KIAA1467 KIAA1467 18029348,12477932,10819331,20379614 57613 AK125278,AK294732,AL832902,BC030126,BC039267,BC132772,BC132774,CD172292,CR936647,NM_020853,AC023790,CH471094,AB040900 BAC86111,BAG57879,CAH10631,AAH39267,AAI32773,AAI32775,CAI56785,A2RU67,Q69YM1,NP_065904,EAW96298,BAA95991 Hs.132660 DKFZp781O012 hypothetical protein LOC57613 protein-coding 1316306 KIAA1468 KIAA1468 737633,1580863 14702039,12477932,11973628,10819331,20379614 737633 57614 NM_020854,AC027514,AC090396,CH471096,AA632129,AB040901,AK025228,AK091160,AK315400,BC011992,BX648481 NP_065905,EAW63120,EAW63121,EAW63122,EAW63123,BAA95992,BAG37793,AAH11992,Q96ES0,Q9P260 Hs.465323 FLJ33841|HsT3308|HsT885 hypothetical protein LOC57614 protein-coding 2311477 KIAA1486 KIAA1486 16344560,14702039,12477932,10819331,20379614,20889853 57624 NM_020864,AC019231,AC016717,AC067961,AC106890,AB040919,AK055226,BC131727,DA230522 NP_065915,BAA96010,BAB70880,AAI31728,Q9P242 Hs.224409 hypothetical protein LOC57624 protein-coding 1316621 KIAA1509 KIAA1509 57641 1602871 KIAA1522 KIAA1522 12477932,10819331 57648 NM_020888,AC114489,CH471059,AB040955,AI587184,AK298965,AL713671,AL833933,BC020306,NM_001198972,NM_001198973 NP_065939,EAX07509,EAX07510,BAA96046,BAG61060,CAD28477,Q9P206,AAI56343,NP_001185901,NP_001185902 Hs.591502 OTTHUMP00000037517|hypothetical protein LOC57648 protein-coding 1343416 KIAA1524 KIAA1524 1580863 17632056,18559589,16381901,15489336,14702039,12477932,12118381,11256614,11230166,11076863,10819331,20964854,19470954,19671842,19959630 57650 NM_020890,AC069499,AC092693,CH471052,AB040957,AF334474,AK022912,AK056933,AK308315,AK310446,AL713689,BC017659,BC063433,BC082961,BC130564,BC136371 NP_065941,EAW79723,EAW79724,BAA96048,AAL11632,BAB14305,CAD28489,AAH17659,AAH63433,AAI30565,AAI36372,Q8TCG1,CAL38128 Hs.591308 CIP2A|FLJ12850|MGC163436|p90 OTTHUMP00000214435|cancerous inhibitor of PP2A|p90 autoantigen|protein CIP2A protein-coding 1343699 KIAA1529 KIAA1529 737633 18978678,14702039,12477932,10819331 737633 57653 NR_036527,NR_036528,NR_036529,AL512590,AL590705 CAH71603 BDAG1|DKFZp434I2420|DKFZp686G1725|KIAA1529|MGC131724|RP11-23J9.1 Behcet's Disease Associated Gene 1|OTTHUMP00000021741|hypothetical protein LOC57653 miscrna 1605974 KIAA1530 KIAA1530 17207965,12477932,10819331 57654 NM_020894,AC078852,AC118281,CH471131,AB040963,AK292661,AL110229,AL390128,BC021930,BC110331,BC140901,EL735271 NP_065945,EAW82584,BAA96054,BAF85350,CAH10662,AAH21930,AAI10332,AAI40902,Q2YD98,Q69YU2 Hs.380475 MGC117169 OTTHUMP00000217694|OTTHUMP00000217695|hypothetical protein LOC57654 protein-coding 1322605 KIAA1539 KIAA1539 737633 11256614,16381901,16189514,15489336,14702039,12477932,11230166,11076863,10819331 737633 80256 AC004472,AL353795,CH471071,AB040972,AK021622,AK022837,AK307682,AL583909,BC004406,CR590745,CR601417,CR619048,NM_025182 NP_079458,AAC07982,CAH70999,CAH71000,CAH71001,EAW58386,EAW58387,EAW58388,EAW58389,EAW58390,EAW58391,EAW58392,EAW58393,BAA96063,BAB13857,BAG51123,CAC29493,AAH04406,Q7L5A3,CAL37915 Hs.301696 FLJ11560|P1.11659_5|RP11-182N22.6|bA182N22.6 OTTHUMP00000021314|OTTHUMP00000021317|hypothetical protein LOC80256 protein-coding 1316325 KIAA1543 KIAA1543 19041755,19041742,16964243,15489334,15302935,12477932,11318610,10819331,8889548,16169070 57662 NM_020902,AC008763,CH471139,AB040976,AF289580,AL833927,BC020431,BC035808,BC036935,BC064490,BC128201,BC128202,BU733578,NM_001080429 NP_001073898,NP_065953,EAW69025,EAW69028,BAA96067,AAL55764,CAD38783,AAI28202,AAI28203,Q8WZ12,Q9P1Y5 Hs.17686 NEZHA calmodulin-regulated spectrin-associated protein 3|protein Nezha protein-coding 2292705 KIAA1549 KIAA1549 18974108,14702039,12477932,10997877,20379614 57670 AC018663,AC083868,AC093144,CH236950,AB046769,AK021793,AK096022,AL136736,AM989468,AM989469,AM989470,AM989471,BC038232,BC069036,BC091523,CR533444,NM_020910,AM989467,NM_001164665 NP_065961,BAB13375,CAB66670,CAQ43107,CAQ43108,CAQ43109,CAQ43110,AAH38232,AAH91523,CAG38475,Q6FII2,Q9HCM3,CAQ43105,CAQ43106,NP_001158137 Hs.605380,Hs.644983 FLJ11731|FLJ38703|FLJ40644|KIAA1549 OTTHUMP00000211716|OTTHUMP00000211809|hypothetical protein LOC57670 protein-coding 1343071 KIAA1586 KIAA1586 12477932,10997877 57691 BC029372,BC041125,BF475674,NM_020931,AL450489,AB046806,AK290988,AK295519,BC012011 AAH29372,AAH41125,Q8N303,NP_065982,CAH71219,BAB13412,BAF83677,BAG58434 Hs.709521 FLJ30162 hypothetical protein LOC57691 protein-coding 1347565 KIAA1598 KIAA1598 737633 17903304,17030985,16344560,14702039,12477932,12421765,10997877,20098747,16385451,18519736,20023658,20379614 737633 57698 NM_018330,NM_001127211,AC023283,CH471066,AB046818,AK001984,AK091381,AK091410,AK091578,AK095419,AK095703,AK095709,AK302705,AK304865,AL157479,BC022348,BC032303,BX537593,BX648065,CR625515,CR749417,CX783645,DA241212,DN993119,EF055487,H17869,CR610238 NP_060800,NP_001120683,EAW49434,EAW49435,EAW49436,EAW49437,EAW49438,BAB13424,BAA92019,BAG52345,BAG52384,BAG53052,BAG53109,BAG53110,BAH13785,BAG65603,AAH22348,AAH32303,CAH18259,ABK56022,A0MZ66 Hs.501140 DKFZp686A0439|MGC40476|SHOOTIN1|shootin-1 shootin-1|shootin1 protein-coding 1605650 KIAA1609 KIAA1609 16189514,14702039,12477932,10997877,8889549,8889548,19060904,16712791 57707 NM_020947,AC022165,CH471114,AA115393,AB046829,AK021995,AK291237,AK297241,AK300132,AK310887,AL137316,AV718305,BC023251,BC060844,BG748167,BI767086,BM674034,BM676714,BM715013,BM715579,BM922004,BQ009692,BU955954,CB160601,CR614446 NP_065998,EAW95478,EAW95479,EAW95480,BAB13435,BAF83926,BAG59721,BAG61921,CAB70693,AAH23251,AAH60844,Q6P9B6 Hs.288274 MGC25024 hypothetical protein LOC57707 protein-coding 1605647 KIAA1614 KIAA1614 16344560,14702039,12805274,11181995,10997877 57710 NM_020950,AL162431,AY270920,CH471067,AB046834,AK055739,AK090668,DA410555,DA807788 NP_066001,CAH74091,CAH74092,EAW91089,EAW91090,BAB13440,BAG52210,Q5VZ46 Hs.647760 FLJ32095|RP11-46A10.3 OTTHUMP00000033136|hypothetical protein LOC57710 protein-coding 1351264 KIAA1618 KIAA1618 12477932,12112524,10997877,15489334,14702039 57714 NM_020954,AC123764,AC124319,CH471099,AB046838,AF397204,AF397205,AK023113,AL832920,BC035987,BC036891,BC040341 NP_066005,EAW89593,EAW89594,BAB13444,AAN63520,AAN63521,BAB14411,CAH10615,AAH36891,AAH40341,Q9H932,Q9HCF4 Hs.514554 protein-coding 1347008 KIAA1632 KIAA1632 737633 18649358,17549423,16344560,15722956,14702039,12477932,10997877,8889548,15231748 737633 57724 NM_020964,AC087685,AC090355,CH471088,AB046852,AK023817,AK094080,AL583915,BC003695,BC036911,BC130614,BC144103,BC144104,BC144105,BM680107,DB065073,DB235183 NP_066015,EAX01465,BAB13458,BAB14689,CAC29499,AAH03695,AAH36911,AAI30615,Q8N401,Q9BTI0,Q9BYJ3,Q9HCE0,AAI72417 Hs.514843 DKFZp667P2311|HEEW1 hypothetical protein LOC57724 protein-coding 2303456 KIAA1644 KIAA1644 11258795,14702039,12477932 85352 NM_001099294,AL022339,AL031595,AL591914,AL671760,AB051431,AK090953,BC068280,BC104183,BC104184 NP_001092764,CAI41964,CAM28349,BAB33314,AAI04184,AAI04185,Q3SXP7 Hs.6829 MGC125851|MGC125852 hypothetical protein LOC85352 protein-coding 2311473 KIAA1671 KIAA1671 15289310,14702039,12477932,11258795 85379 NM_001145206,AL022323,Z99916,AB051458,AI340196,AK025418,AK057551,AL832019,BC171801,BU584987 NP_001138678,CAI17936,CAI17930,BAB33341,AAI71801,Q9BY89 Hs.419171 OTTHUMP00000198606|hypothetical protein LOC85379 protein-coding 1353790 KIAA1683 KIAA1683 11256614,16381901,16344560,16189514,15489336,15489334,15302935,14702039,12477932,11230166,11214970,11076863,20800603,20379614 80726 NM_001145304,NM_001145305,NM_025249,AC008397,CH471106,AB051470,AK057466,AK093064,AK095765,AK095771,AK302431,AL136867,BC034327,BC112932,BC127099,BC127100,BQ006839,DB078391,DC403083 NP_001138776,NP_001138777,NP_079525,EAW84681,BAB21774,BAB71500,BAG63734,CAB66801,AAH34327,AAI12933,AAI27100,AAI27101,Q2KHR5,Q9H0B3 Hs.313471 MGC131731 KIAA1683 protein-coding 1606778 KIAA1688 KIAA1688 protein 15302935,14702039,12477932,11214970,15755809 80728 NM_025251,AC084125,CH471162,AB051475,AK092501,AK296353,AK303851,BC013071 NP_079527,EAW82062,BAB21779,BAG52562,BAG59035,BAG64793,AAH13071,Q6PJQ0,Q9C0H5 Hs.148988 CrGAP|KIAA1688|Vilse RhoGAP93B homolog|crossGAP homolog|rho GTPase-activating protein 39 protein-coding 1316340 KIAA1704 KIAA1704 12477932,11214970 55425 NM_018559,AL359706,CH471075,AB051491,AF145122,AF245045,AJ420573,AK292493,BC017776,BC032333,BC039586,AK304669 NP_061029,CAI12866,CAI12868,EAX08720,EAX08721,EAX08722,EAX08723,BAB21795,AAF70548,AAG44482,BAF85182,AAH17776,AAH32333,AAH39586,Q8IXQ4,BAG65444 Hs.724536 AD029|LSR7|RP11-245H20.2|bA245H20.2 hypothetical protein LOC55425|lipopolysaccharide specific response-7 protein|lipopolysaccharide-specific response protein 7 protein-coding 1318333 KIAA1712 KIAA1712 737633 16344560,14702039,12477932,11214970,16189514,21177773 737633 80817 NM_001145314,AC097653,AC116616,CH471056,AB051499,AK094961,AK292484,AL699124,AY426674,BC038667,BC045590,DA347369,DB211405,NM_001040157 NP_001035247,NP_001138786,EAX04738,EAX04739,EAX04740,BAB21803,BAG52965,BAF85173,AAR88428,AAH38667,Q9C0F1 Hs.555989 PS1TP3 HBV PreS1-transactivated protein 3|OTTHUMP00000218896 protein-coding 1323819 KIAA1715 KIAA1715 17353931,12732147,17081983,15489334,14702039,12477932,11214970 80856 NM_030650,AC016751,AC016915,AB051502,AK056532,AK096916,AK301947,AK302833,AL832947,BC031530,BC064661,BC105132,BC105134,BC110329,BC143681,BC143683,BG702450,CR936742,CH471058 NP_085153,EAX11099,BAB21806,BAB71207,BAH13591,BAH13815,CAH56306,AAH31530,AAI05133,AAI05135,AAI10330,AAI43682,AAI43684,EAX11098,Q9C0E8 Hs.209561 DKFZp686G1442|LNP|MGC102862|Ul|ulnaless 2310011O18Rik|4921514L11Rik|Lunapark|protein lunapark protein-coding 1602084 KIAA1731 KIAA1731 14702039,12477932,11214970,11181995,20379614 85459 NM_033395,AP001273,AP003499,CH471065,AA747565,AB051518,AK057804,AK095218,AK095859,AK098232,BC015989,BC017394,DW414641,XR_110903 NP_203753,EAW66906,EAW66907,EAW66908,EAW66909,EAW66910,BAB21822,BAB71582,BAC04502,BAC04638,BAC05264,Q9C0D2 Hs.458418 FLJ40913 hypothetical protein LOC85459 protein-coding 1319859 KIAA1737 KIAA1737 18029348,15489334,14702039,12477932,11214970,17207965 85457 NM_033426,AC007375,AC007686,CH471061,AB051524,AK024737,AK096603,AK315124,AL834514,BC037300,BI546511 NP_219494,EAW81269,EAW81270,BAB21828,BAG53337,BAG37578,CAD39170,AAH37300,Q9C0C6,ADQ31804 Hs.709066 KIAA1737 hypothetical protein LOC85457 protein-coding 1604563 KIAA1751 KIAA1751 11214970,12477932 85452 NM_001080484,AL109917,AL391845,AB051538,AK127388,BC139754 NP_001073953,CAI95650,CAI15433,CAI15434,CAI15435,BAB21842,BAC86954,AAI39755,Q5T2D8,Q9C0B2 Hs.232092 FLJ45476|RP1-140A9.6 OTTHUMP00000214968|hypothetical protein LOC85452 protein-coding 2289756 KIAA1755 KIAA1755 14702039,12477932,11214970,20379614 85449 NM_001029864,AL031651,CH471077,AB051542,AK096202,BC029137,BC047031,BC011516 NP_001025035,CAI19006,CAI19007,EAW76037,EAW76038,EAW76039,BAB21846,Q5JYT7 Hs.472690 RP5-1054A22.3 hypothetical protein LOC85449 protein-coding 1351643 KIAA1772 KIAA1772 15146197,14702039,12477932,11214970 80000 NM_001142966,AC011774,AC015878,AC022809,CH471088,AA703199,AB051559,AK023749,AK293321,AK309723,BC125017,BE336624,BG774496,CN369824,CN369826,DY655149 NP_001136438,EAX01122,EAX01123,EAX01124,EAX01125,EAX01126,BAB21863,BAB14666,BAG56840,AAI25018,Q9C091 Hs.149020 C18orf6|KIAA1772 GREB1-like protein protein-coding 1601733 KIAA1787 KIAA1787 protein The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq] 19615732,14702039,17353931,12477932,11347906 84461 NM_032442,NM_001005408,AC026954,AB058690,AL136870,AL833570,BC007227,BC073134 NP_115818,NP_001005408,BAB47416,CAB66804,AAH07227,AAH73134,Q96JN8 Hs.654794 FLJ35680|KIAA1787 neuralized-like protein 4 protein-coding 1352316 KIAA1797 KIAA1797 20379614,19204726,16344560,14702039,12477932,11347906,9373149,8125298,20601674 54914 NM_017794,AL354879,AL392163,AL445624,AL662879,CH471071,CQ834730,AB058700,AK000382,AK055116,AK056522,AK172818,AK225483,AL512738,AY139834,BC001246,CR607345,CR608016,CR623397,DB288580 NP_060264,CAH73851,EAW58627,EAW58628,EAW58629,CAH05580,BAB47426,BAA91129,BAG51471,BAB71203,BAD18787,AAN17740,AAH01246,Q5VW36 Hs.136247 FLJ20375 OTTHUMP00000069845|hypothetical protein LOC54914 protein-coding 1601734 KIAA1804 mixed lineage kinase 4 2293875 12477932,18029348,16710414,11347906,20936779 2293875 84451 NM_032435,AL133380,CH471098,AB058707,AJ311797,AJ311798,BC136648,BC136649 NP_115811,CAI23045,CAI23046,CAI23047,EAW69987,EAW69988,BAB47433,CAC84639,CAC84640,AAI36649,AAI36650,Q5TCX8 Hs.547779 MLK4|RP5-862P8.2|dJ862P8.3 mitogen-activated protein kinase kinase kinase|mitogen-activated protein kinase kinase kinase MLK4 protein-coding 1603604 KIAA1826 KIAA1826 20379614,11256614,16381901,15489336,14702039,12477932,11347906,11230166,11076863 84437 NM_032424,AP000813,CH471065,AB058729,AF253976,AI399910,AK027790,AK293050,AL834523,BC041118,CR610578,CR614328 NP_115800,EAW67071,BAB47455,AAG44625,BAB55371,BAF85739,CAD39179,AAH41118,Q8NCY6,CAL38238 Hs.266782 hypothetical protein LOC84437 protein-coding 1606998 KIAA1841 KIAA1841 19240061,16344560,12477932,11347906 84542 NM_032506,NM_001129993,AC016747,CH471053,AB058744,AK131267,AK309749,AL833595,AW088127,BC039298,BC070104,BX647395,CA421892,CR590445,DA222969,DB086916,DB090584 NP_115895,NP_001123465,EAX00013,EAX00014,EAX00015,EAX00016,BAB47470,BAD18445,AAH70104,Q6NSI8,AAH39298 Hs.468653 MGC39557 KIAA1841 protein|OTTHUMP00000201313 protein-coding 1603376 KIAA1853 KIAA1853 14702039,12800201,12477932,11347906,8889548,19737518,20379614 84530 BM680369,NM_194286,AC084361,AC087885,CH471054,AB058756,AK055717,AK125400,AK291361,AY130006,BC152471,BC167162,BC167163,H10301 NP_919262,EAW98142,BAB47482,BAF84050,AAN05090,AAI52472,AAI67162,AAI67163,A7MD48,AAI67787 Hs.726207 KIAA1853|MGC176729|MU-MB-2.76|nSR100 medulloblastoma antigen MU-MB-2.76|neural-specific SR-related protein of 100 kDa|neural-specific serine/arginine repetitive splicing factor of 100 kDa|serine/arginine repetitive matrix protein 4 protein-coding 1601920 KIAA1875 KIAA1875 The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript. [provided by RefSeq] 14702039,11347906,16169070 340390 NR_024207,AC104592,AB058778,AI567202,AK095597,AK124611,AK302485,AL137446,BI757563 BAB47504,BAC85899,BAG63770,CAB70740,A6NE52,Q6ZVG2,Q9NTA2 Hs.98723 miscrna 1347657 KIAA1881 KIAA1881 12840023,12477932,11572484,19638644,20495294 729359 NM_001080400,AC011498,AB067468,AK295236,BC153818 NP_001073869,BAB67774,BAG58229,AAI53819,Q96Q06 Hs.591387 KIAA1881|S3-12 adipocyte protein S3-12|perilipin-4 protein-coding 1321427 KIAA1919 KIAA1919 16344560,14702039,12590146,12477932,11572484 91749 NM_153369,AL080317,CH471051,AB067506,AF161363,AI096577,AI151460,AK093136,AK292735,AK315016,BC036115,BG697347,CR619381,DB024559,DB027926,DB202540 NP_699200,CAI19190,EAW48296,BAB67812,AAF28923,BAG52663,BAF85424,AAH36115,Q5TF39 Hs.400572 MGC33953|NaGLT1 sodium-dependent glucose transporter 1 protein-coding 1605891 KIAA1920 KIAA1920 protein 11572484 114817 NG_006511,AC136704,AB067507 BAB67813 Hs.513096 KIAA1920 pseudo 1319936 KIAA1949 KIAA1949 Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM] 737633 19622346,17374523,17081983,16344560,15489334,15302935,15221005,14702039,12477932,11853319,19851445 737633 170954 XM_003119436,NM_001134870,AL662797,AL662798,AL732442,AL845353,BX119957,BX248307,BX908728,CH471081,CR753328,CR759873,CR788240,CR936878,AB073600,AB075829,AK097089,AK124880,AK125639,AK126182,AL832318,AL832742,BC006176,BC023314,BC047721,BC066644,BX647622,CR604683,CR606220,CR614213,DA788428,DB278980,DQ988947,NM_133471 Q6ZTV1,XP_003119484,Q6NYC8,NP_597728,NP_001128342,CAM25509,CAM25551,CAQ07426,EAX03318,EAX03319,CAQ07800,CAQ08685,CAQ07566,CAQ06808,BAD38640,BAB85535,BAG54110,BAC86229,BAC86478,CAD38613,AAH06176,AAH66644,CAI46080,ABL61261,CAM25008 Hs.101150 HKMT1098 phostensin|protein phosphatase 1 F-actin cytoskeleton targeting subunit|protein phosphatase 1 F-actin cytoskeleton-targeting subunit protein-coding 1322143 KIAA1958 KIAA1958 17081983,15489334,15302935,15164053,14702039,12477932,11853319,20379614 158405 NM_133465,AL162732,AL390067,AL445187,CH471105,AB075838,AK056181,AK096613,BC105048,BC113515,BC143372,BC143424 NP_597722,CAH71933,CAI16023,CAI16024,EAW59109,EAW59110,BAB85544,BAB71114,BAC04827,AAI05049,AAI13516,AAI43425,Q8N8K9 Hs.656619 FLJ39294|MGC142075 hypothetical protein LOC158405 protein-coding 1605357 KIAA1967 KIAA1967 15824730,19126541,18418069,18235502,18235501,17314511,17353931,17473282,17081983,16381901,15489336,15489334,15345747,15302935,14743216,14702039,12477932,12370419,11853319,11230166,11076863,11256614,16344560,17643375,19131338,19218236,19509139,19657230,20071779,20160719,21030595,20562859 57805 NM_021174,AC037459,CH471080,AB075847,AF293335,AK022661,AK095712,AK096547,AK314535,AL137523,AL834162,AL834351,AL834352,BC003172,BC018269,BC065495,BI561261,BX390251,BX640952,CR613641,DA110888,DA721640,NR_033902,HD117867,HH735892 NP_066997,EAW63658,EAW63659,EAW63660,EAW63661,EAW63662,BAB85553,AAG02472,BAB14163,BAG53111,BAG37126,CAB70788,CAD38866,CAD39016,CAD39017,AAH18269,AAH65495,CAE45976,Q8N163,CAL37584,CAL38698,CBW53721,CBX74356 Hs.728138 DBC-1|DBC1|NET35|p30DBC DBC.1|deleted in breast cancer 1|deleted in breast cancer gene 1 protein|p30 DBC protein protein-coding 1350546 KIAA1984 KIAA1984 737633 14702039,12477932,11853319,21048031,16344560,16582619 737633 84960 NM_001039374,AL355987,AK090683,AK092639,BC007542,BC064582,BC137317,BC137318,BF979345,AW572474,DA235138,DB446839 NP_001034463,CAI12681,BAC03504,BAC03931,AAH07542,AAH64582,AAI37318,AAI37319,Q5T5S1,Q8NBE1,Q8WYT4,Q96IG8 Hs.370555,Hs.356744 MGC15438|PARF|RP11-216L13.7|RP11-216L13.9|bA216L13.7 OTTHUMP00000215033|hypothetical protein LOC84960 protein-coding 1602668 KIAA2013 KIAA2013 12477932 90231 NM_138346,AL021155,AL096840,CH471130,AB095933,AL833697,AL833891,BC004501,BC035033 NP_612355,CAI23397,CAI19081,CAI19082,EAW71720,EAW71721,EAW71722,EAW71723,BAC23109,CAD38747,AAH04501,AAH35033,Q8IYS2 Hs.520094 MGC33867|RP5-1077B9.1 KIAA2013 protein protein-coding 1602969 KIAA2018 KIAA2018 11181995,20936779 205717 NM_001009899,AC055740,AC108693,CH471052,AB095938,BC043383,BX537728,CR590163,CR749439 NP_001009899,EAW79632,BAC23114,CAD97821,CAH18277,Q68DE3 Hs.632570 DKFZp781O0144 K06A9.1-like|OTTHUMP00000214838|OTTHUMP00000214839|hypothetical protein LOC205717 protein-coding 1603497 KIAA2022 KIAA2022 An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation. 18029348,16344560,15772651,15466006,12477932 340533 NM_001008537,AL139395,AL390035,CH471104,AB095942,AI167637,AK128651,AK307471,AY563507,BC038798,BC152557,DA776009,NG_027726 NP_001008537,CAI39510,CAI39511,EAW98638,BAC23118,AAT67985,AAI52558,Q5QGS0,AAI67807 Hs.124128 OTTHUMP00000023576|hypothetical protein LOC340533 protein-coding 1323134 KIAA2026 KIAA2026 20936779,16713569,15164053,14702039,12477932 158358 NM_001017969,AL162384,AL353606,AL365360,CH471071,AB095946,AL833370,BC136846,BX648372,DY655479 NP_001017969,CAI95313,EAW58754,BAC23122,AAI36847,CAI45993,Q5HYC2 Hs.535060 putative uncharacterized protein ENSP00000382813 protein-coding 732181 KIDINS220 kinase D-interacting substrate, 220kDa 9069267,16284401,18539593,18501627,18089783,18048355,17079733,16344560,15378608,15167895,14971036,14702039,12477932,11150334,10998417,10574462,16169070 57498 AC012495,CH471053,AB033076,AI088931,AK022873,AK023926,AK025528,AK057125,AK074254,AK294464,AK294832,AK295358,AK296459,AL133620,NM_020738,AL137553,BC039409,BC094714,BC130610,BX538189,BX640878,CR617859,DA507846 NP_065789,EAX01014,EAX01015,EAX01016,BAA86564,BAB14285,BAB14728,BAG57695,BAG57942,BAG58324,BAG59106,CAB63746,CAB70807,AAH94714,AAI30611,CAD98059,CAE45935,Q7Z322,Q9ULH0 Hs.9873 ARMS|MGC163482 OTTHUMP00000214111|OTTHUMP00000214115|OTTHUMP00000214116|ankyrin repeat-rich membrane spanning|ankyrin repeat-rich membrane-spanning protein|kinase D-interacting substrate of 220 kDa protein-coding 1346274 KIF11 kinesin family member 11 This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq] 1580863 20299460,20404347,20558732,21106837,8548803,14718566,18669648,18029348,18845538,18806799,18640125,18512732,18503753,18212765,18037705,17999913,17971426,17827400,17562024,17293876,17251189,17101792,17062577,17014086,16969080,16642039,16604065,16565220,16434397,16344560,16341674,16115880,15858821,15665380,15489334,15247293,15164054,15024728,14517947,12477932,11416179,11328809,9701554,9235942,7776974,1505978,14527417,16385451,17643375,18679583,19545421,19615732,19619321,19793049,19802393,19824700,19862325,19896928,19951065,19996280,20018897,20154092,20508983,19001501 3832 NM_004523,AL356128,AL360222,CH471066,CS174237,AA504625,AA857025,AB208964,AK314258,BC050421,BC126211,BC136474,BM742618,CU446438,DB078134,L40372,U37426,X85137 NP_004514,CAI13671,CAH72288,EAW50089,CAJ34547,BAD92201,BAG36923,AAI26212,AAI36475,AAC41739,AAA86132,CAA59449,P52732,Q59GZ5 Hs.8878 EG5|HKSP|KNSL1|TRIP5 TR-interacting protein 5|TRIP-5|kinesin-like 1|kinesin-like protein 1|kinesin-like protein KIF11|kinesin-like spindle protein HKSP|kinesin-related motor protein Eg5|thyroid receptor interacting protein 5|thyroid receptor-interacting protein 5 protein-coding 1318282 KIF12 kinesin family member 12 KIF12 is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM] 1580863 20237496,15643526,15489334,15164053,12477932,9275178 113220 NM_138424,AL137850,CH471090,BC010626,BC036824,CR617868 NP_612433,CAI15900,CAI15901,EAW87405,EAW87406,EAW87407,EAW87408,EAW87409,EAW87410,AAH10626,Q96FN5 Hs.28149 RP11-56P10.3 kinesin-like protein KIF12 protein-coding 1317245 KIF13A kinesin family member 13A 1580863 17474147,19328558,18391951,16964243,15231748,14574404,12477932,11861365,11374900,11106728,10777215,9373149,8889549,8125298,19094064,19841138,20208530,20379614 63971 NM_001105568,NM_001105567,NM_001105566,NM_022113,AL023807,AL138724,CH471087,AA037612,AJ291578,AJ291579,AK025303,AK225214,AW296537,AY014403,AY014404,BC001730,BC023613,BC062673,BC127115,BC127116,CA308223 NP_001099038,NP_001099037,NP_001099036,NP_071396,CAI21670,CAI21671,CAI40947,CAI40948,CAI40949,EAW55387,EAW55388,EAW55389,EAW55390,EAW55391,CAC20442,CAC20443,BAB15107,AAG38890,AAG38891,AAI27116,AAI27117,Q5JV47,Q9H1H9,Q9H6Z3 Hs.189915 FLJ27232|bA500C11.2 OTTHUMP00000016072|OTTHUMP00000221508|homolog of mouse KIF13A mannose-6-phosphate receptor transporter|kinesin-like protein KIF13A|kinesin-like protein RBKIN protein-coding 1349792 KIF13B kinesin family member 13B 1580863 21057110,10859302,12496241,17696365,16864656,16344560,12477932,9734811,20339536,19615732,20194617,20201926,20379614 23303 AC084262,AC103830,AC108449,CH471080,AB014539,AF279865,AI760125,AK000240,AK129580,AK294837,AK307848,AL583912,BC005977,BC014350,BC028056,BC051859,DA068190,DA437040,NM_015254 Q9NQT8,NP_056069,EAW63486,EAW63487,EAW63488,EAW63489,EAW63490,EAW63491,BAA31614,AAF81263,BAG57946,CAC29496,AAH05977,AAI72411 Hs.444767 GAKIN|KIAA0639 guanylate kinase associated kinesin|kinesin 13B|kinesin-like protein GAKIN|kinesin-like protein KIF13B protein-coding 1321678 KIF14 kinesin family member 14 KIF14 is a member of the kinesin superfamily of microtubule-associated motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM] 1580863 19190782,19123481,17962437,17545527,17203973,17099872,17081983,16648480,16570270,16431929,15897902,12477932,9275178,7584044,16820410,19509238,19609547,20306291 9928 NM_014875,AL445483,CH471067,CQ971990,BC098582,BC113742,D26361,BC144068,HH961790 ADR83299,NP_055690,CAI17049,EAW91315,EAW91316,EAW91317,CAI40582,AAH98582,AAI13743,BAA05392,Q15058,CBX51368 Hs.3104 KIAA0042|MGC142302 kinesin-like protein KIF14 protein-coding 1351410 KIF15 kinesin family member 15 1580863 10878014,16169070,14702039,12747765,12477932,19818618,19818619 56992 NM_020242,AC098649,CH471055,AB035898,AF308294,AK027816,AK098533,AK307674,AL832908,BC117174,BC143752,DR005852 NP_064627,EAW64724,BAB03309,AAG48261,BAB55389,CAH10635,AAI17175,Q9NS87 Hs.658939 FLJ25667|HKLP2|KNSL7|NY-BR-62 OTTHUMP00000209753|kinesin-like 7|kinesin-like protein 2|kinesin-like protein 7|kinesin-like protein KIF15|serologically defined breast cancer antigen NY-BR-62 protein-coding 1320877 KIF16B kinesin family member 16B 17203973,16782399,16084724,15882625,15489334,14702039,12477932,12461558,11780052,10997877,21139019 55614 NM_024704,AL049794,AL117376,AL118509,CH471133,AB046810,AK000142,AK026698,AK095322,AK307399,AY044654,AY166853,BC015384,BC034984,BC050577,BC110317,BC150261,BQ067573,BX647572,BX648426,NG_028043,NM_001199865,NM_001199866 CAI22745,CAM28307,NP_078980,CAI43180,CAI43181,CAI43063,CAM28305,EAX10287,EAX10288,EAX10289,EAX10290,BAB13416,BAA90971,BAB15530,AAK98768,AAO17292,AAH34984,AAI10318,AAI50262,CAI46105,CAI46266,Q2TBF5,Q96L93,NP_001186794,NP_001186795 Hs.101774 C20orf23|KISC20ORF|SNX23 OTTHUMP00000030319|chromosome 20 open reading frame 23|kinesin motor protein|kinesin-like protein KIF16B|sorting nexin 23|sorting nexin-23 protein-coding 1344438 KIF17 kinesin family member 17 1580863 16713569,16710414,15489334,14673085,12514209,12493914,20530208,19679349,20378615,20379614,10846156,10718198,9427749,20696710,12477932,20646681 57576 NM_001122819,AL391357,AL663074,CH471134,AB037826,AB290162,AF009624,AY484427,BC036871,NM_020816,BC040639,BC065927,BX387401,CR604951,CR623989 NP_065867,NP_001116291,CAH73471,CAI23390,EAW94941,EAW94942,EAW94943,EAW94944,EAW94945,EAW94946,BAA92643,BAG06716,AAD01428,AAR33039,AAH65927,Q9P2E2,AAH36871 Hs.130411 KIAA1405|KIF17B|KIF3X KIF17 variant protein|KIF3-related motor protein|OTTHUMP00000002887|kinesin-like protein KIF17 protein-coding 1352766 KIF18A kinesin family member 18A KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM] 737633,1580863 18267093,17346968,16565220,16381901,16344560,15878648,15489336,15489334,15231748,14702039,12477932,11230166,11076863,11256614,17006958,18680169,19625775,20153196,20595236 737633 81930 DB080843,AC023206,AC090159,CH471064,AB062483,AK093850,AK312576,AL136819,AW770226,AY791349,BC026090,BC035917,BC048347,CR610087,NM_031217 Q4G194,Q8NI77,CAL37983,NP_112494,EAW68271,BAB93508,BAG35470,CAB66753,AAX16185,AAH26090,AAH48347 Hs.301052 DKFZp434G2226|MS-KIF18A kinesin-like protein KIF18A protein-coding 2292085 KIF18B kinesin family member 18B 16084724,12477932,20600703 146909 NM_001080443,AC015936,BC044933,BC048263,BC067365,BC136590,BC144271,GU808359 NP_001073912,AAH44933,AAH67365,AAI36591,AAI44272,Q6NWY8,Q86Y91,ADE43428 Hs.135094 kinesin-like protein KIF18B protein-coding 1603919 KIF19 kinesin family member 19 16625196,16344560,15489334,14702039,12477932,11416179,20379614 124602 BC143327,BE219924,DA955730,AW014742,NM_153209,AC103809,CH471099,AA527573,AK094619,AW339468,BC026362,BC067749,BC093631,BC104852,BC110989 AAI43328,Q2TAC6,Q8N2A4,AAI10990,NP_694941,EAW89150,EAW89151,EAW89152,EAW89153,BAC04386,AAH93631,AAI04853 Hs.372773 FLJ37300|KIF19A kinesin-like protein KIF19 protein-coding 1312759 KIF1A kinesin family member 1A The protein encoded by this gene is a member of the kinesin family. This protein is highly similar to mouse heavy chain kinesin member 1A protein which is an anterograde motor protein that transports membranous organelles along axonal microtubules. It is thought that this protein may play a critical role in the development of axonal neuropathies resulting from impaired axonal transport. There are multiple polyadenylation sites found in this gene. [provided by RefSeq] 20162572,7539720,18029348,16946706,15815621,15489334,15014437,14702039,12522103,12477932,12435738,11701947,10737800,10323250,9110174,8889548,8661001,8619474,7937745,1846075,1538749,15722511,15604093 547 AC011298,AC112784,CH471063,AB209138,AB210029,AB290172,AF004425,AF038173,AF052089,NM_004321,AI815863,AI878864,AK054791,AK130880,AK297530,AK307119,AL706949,BC009491,BC021199,BC064906,BC111780,BC111799,BF879579,BF946744,BQ924476,BU732893,BX537556,CR597225,CR610146,L79946,U37194 NP_004312,AAX93238,AAX93239,EAW71214,EAW71215,EAW71216,EAW71217,BAD92375,BAE06111,BAG06726,AAD02917,AAB97363,BAG59932,AAH64906,AAI11781,AAI11800,CAH56161,AAB04640,AAA80352,Q12756,Q53T79 Hs.516802 ATSV|C2orf20|DKFZp686I2094|FLJ30229|HUNC-104|MGC133285|MGC133286|UNC104 OTTHUMP00000201341|axonal transport of synaptic vesicles|axonal transporter of synaptic vesicles|kinesin, heavy chain, member 1A, homolog of mouse|kinesin-like protein KIF1A|microtubule-based motor KIF1A|tmp_locus_27|unc-104- and KIF1A-related protein protein-coding 732615 KIF1B kinesin family member 1B This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq] 1580863 20502484,20676096,10341097,16225668,18997785,18726616,18614535,18334619,17418584,17081983,16637659,16344560,15489334,15342556,15324660,15302935,14702039,14697242,12888911,12629046,12477932,12204119,12097473,11835375,11526494,11389829,10819331,10762626,10198040,9628581,9409358,8854876,7528108,16169070,14578343,20877624,19776380,20067515,20190806,20379614 23095 AU121683,AV726155,AY043362,AY139835,BC001415,BC028114,BC040017,BC047632,BC073883,BC094856,BC115395,BF940695,BI601300,BP239973,BT007174,BU626971,DA113609,DA485632,DA774937,NM_183416,NG_008069,AL139424,AL358013,AX039604,CH471130,AA609163,AB011163,AB017133,AB040881,AB088210,AB088211,AB088212,AB088213,AF257176,AK022977,AK023184,AK025761,AK025771,AK074279,AK297439,AK308121,NM_015074,BC063684 AAK85155,AAN17742,AAH01415,AAI15396,AAP35838,O60333,Q4R9M7,Q4R9M8,Q4R9M9,Q4VXC4,NP_055889,NP_904325,CAI95752,CAI95753,CAI95754,CAI95219,CAI95220,CAI95221,CAI95222,CAC16629,EAW71641,EAW71642,EAW71643,EAW71644,EAW71645,BAA25517,BAB69038,BAA95972,BAE02543,BAE02544,BAE02545,BAE02546,AAK49332,BAB14341,BAG59865 Hs.97858 CMT2|CMT2A|CMT2A1|FLJ23699|HMSNII|KIAA0591|KIAA1448|KLP|MGC134844|NBLST1 OTTHUMP00000001772|OTTHUMP00000001776|kinesin superfamily protein KIF1B|kinesin-like protein KIF1B protein-coding 731799 KIF1C kinesin family member 1C 1580863 9685376,17081983,16964243,16554367,15489334,12477932,10559254,9734811,19996280 10749 NM_006612,AC004771,AC012146,CH471108,AB014606,AK307401,BC025365,BC034993,U91329,BC040307,BM458656 NP_006603,EAW90366,EAW90367,EAW90368,EAW90369,BAA31681,AAH34993,AAC52117,O43896 Hs.435120 KIAA0706|LTXS1 kinesin 1c|kinesin-like protein KIF1C protein-coding 1317032 KIF20A kinesin family member 20A 1580863 9438855,12939256,19303298,17081983,16565220,16381901,15665285,15489336,15489334,15263015,12477932,12469216,11416179,11076863,11071909,11060022,10893188,10806357,10233894 10112 NM_005733,AC106752,AC109442,CH471062,AF070672,AF153329,AK024804,AK025790,AK296879,BC012999,CR598555,DC402781,HH961754 NP_005724,EAW62157,EAW62158,AAC83230,AAD37806,BAG59441,AAH12999,O95235,CAL37661,CBX51350 Hs.718626 FLJ21151|MKLP2|RAB6KIFL GG10_2|OTTHUMP00000223777|RAB6 interacting, kinesin-like (rabkinesin6)|kinesin-like protein KIF20A|mitotic kinesin-like protein 2|rab6-interacting kinesin-like protein|rabkinesin-6 protein-coding 1318298 KIF20B kinesin family member 20B 1580863 16385451,11470801,15489334,15164054,14702039,12740395,12477932,11230166,10695267,8885239,8290587,16712791 9585 AL157389,AL157400,CH471066,AB033337,AK024959,AK025628,AK074336,AK290439,AL117496,AL137392,NM_016195,AY282406,AY282407,AY739715,BC005221,BC012585,BC042130,BC046134,BC058913,BC093089,BC108688,CB130618,L16782,U93121,CS403020,FB749902,GM983782 NP_057279,CAI12885,CAI12886,CAI12887,CAI16829,CAI16830,CAI16831,CAI16832,EAW50126,EAW50127,EAW50128,BAB69456,BAB15043,BAB15194,BAF83128,CAB55962,CAB70720,AAP40330,AAP40331,AAW65984,AAH46134,AAH58913,AAH93089,AAI08689,AAC37542,AAB88727,Q96Q89,CAL40386,CAT02174,CAX21631 Hs.240 CT90|DKFZp434B0435|DKFZp434P0810|KRMP1|MPHOSPH1|MPP-1|MPP1 M-phase phosphoprotein 1|cancer/testis antigen 90|kinesin-like protein KIF20B|kinesin-related motor interacting with PIN1|mitotic kinesin-like protein protein-coding 1312975 KIF21A kinesin family member 21A KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM] 1580863,1600402 19165527,19020088,18363169,18332320,18323871,17511870,16365788,16157808,15827546,15671279,15621877,15621876,15489334,15223798,14702039,14595441,12702216,12477932,11214970,10508479,10225949,9734811,8075644,16344560,16939002,19551685,19559006,19852579,19896199 1600402 55605 NM_017641,AC084373,AC090668,AC121334,CH471111,AB051495,AB290166,AF155117,AF450487,AK000059,AK124704,AM177179,AY368076,BC032344,BC041430,BC047572,BC136414,BX537855,CR621208,CR624190,CR624607,AW131223,DA293947,NG_017067,NM_001173463,NM_001173464,NM_001173465 NP_060111,EAW57802,EAW57803,EAW57804,EAW57805,EAW57806,BAB21799,BAG06720,AAD42883,AAP97680,BAA90916,CAJ45483,AAR04774,AAH41430,AAH47572,AAI36415,CAD97863,Q2UVF1,Q68D13,Q7Z4S6,NP_001166934,NP_001166935,NP_001166936 Hs.374201 CFEOM|CFEOM1|DKFZp779C159|FEOM|FEOM1|FEOM3A|FLJ20052|KIAA1708 kinesin-like protein KIF2|kinesin-like protein KIF21A|renal carcinoma antigen NY-REN-62 protein-coding 1343896 KIF21B kinesin family member 21B KIF21B belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM] 737633,1580863 20587413,16710414,12477932,9455484,20007504,19915572 737633 23046 NM_017596,AC099756,AL358473,AB007918,AK131318,AL137395,AM177180,BC031927,BC052964,BC078676,BC137281,CR596112,CR608417,FB659860,BC144557 NP_060066,CAI12384,BAA32294,CAB70723,CAJ45484,AAI37282,O75037,Q2UVF0,Q9NTB9,CAS01784,AAI44558 Hs.169182 FLJ16314 kinesin-like protein KIF21B protein-coding 1323577 KIF22 kinesin family member 22 The protein encoded by this gene is a member of kinesin-like protein family. This family of proteins are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. [provided by RefSeq] 1580863 16169070,8599929,18329364,18268099,17726374,16565220,16176979,15489334,12805422,12727876,12692123,12606572,12477932,11564754,11416179,11146551,10966105,10966104,10493829,9790757,9685418,9373149,8146198,8125298,17474147,20144232 3835 AB017335,AC002301,AC009133,CH471238,AB017430,AK223431,AK297893,AK312234,BC004352,BC028155,BT007259,CR590954,CR590974,CR596474,CR615759,CR615781,L29095,L29096,NM_007317,AK294380,AK316050,AK316389,CR592785 NP_015556,BAA33063,AAC08711,AAC08712,EAW80004,EAW80005,EAW80006,EAW80007,EAW80008,EAW80009,EAW80010,BAA33019,BAD97151,BAG60214,BAG35167,AAH04352,AAH28155,AAP35923,AAA59960,AAA59961,O60846,Q14807,Q14984,Q14985,Q7LE35,ABM81697,ABM84578,ABM84858,ABM86755,AAC08709,BAH11751,BAH14421,BAH14760 Hs.612151 A-328A3.2|KID|KNSL4|OBP|OBP-1|OBP-2 kinesin-like 4|kinesin-like DNA-binding protein pseudogene|kinesin-like protein 4|kinesin-like protein KIF22|oriP binding protein|origin of plasmid DNA replication-binding protein protein-coding 1318460 KIF23 kinesin family member 23 The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in two transcript variants encoding two different isoforms. [provided by RefSeq] 1580863 10506747,1406973,17353931,18329369,15199097,19015243,17198681,17081983,16964243,16790497,16565220,16461284,16344560,15796717,15592455,15489334,15324660,15302935,15297875,15075367,15009096,12477932,11942621,11877456,11782313,11416179,10403813,8524282,15778465,20562859,20451386,15197175,20508983 9493 NM_138555,NM_004856,AC027237,CH471082,AI131325,AK303874,AK308322,AK308361,AK310402,AU133373,BC017705,BC051826,X67155 NP_612565,NP_004847,EAW77841,EAW77842,BAG64812,AAH17705,AAH51826,CAA47628,Q02241,ABW03421 Hs.270845 CHO1|KNSL5|MKLP-1|MKLP1 kinesin-like 5 (mitotic kinesin-like protein 1)|kinesin-like protein 5|kinesin-like protein KIF23|mitotic kinesin-like 1|mitotic kinesin-like protein 1 protein-coding 1349790 KIF24 kinesin family member 24 14702039,11416179 55265 XM_929828,XM_939512,AL353662,AK001795 XP_934921,XP_944605,CAI15920,BAA91916 Hs.652809 FLJ10933|bA571F15.4 protein-coding 1345652 KIF25 kinesin family member 25 The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. [provided by RefSeq] 1580863 9925916,14574404,12477932,11416179,9925910 3834 NM_030615,NM_005355,AB012723,AB016897,AL589733,CH471051,AB012722,AK289488,BC130489 NP_085118,NP_005346,BAA36418,CAI12327,CAI12328,EAW47474,EAW47475,EAW47476,BAA36417,BAF82177,Q5SZU8,Q9UIL4 Hs.150013 KNSL3|MGC163361 OTTHUMP00000219077|kinesin-like 3|kinesin-like protein 3|kinesin-like protein KIF25 protein-coding 1317452 KIF26A kinesin family member 26A 1580863 12477932,11416179,10574462,19914172,20936779 26153 NM_015656,AL359399,AB033062,AB290161,AK026406,AL117589,BC009415,BC025353,BE540821 NP_056471,BAA86550,BAG06715,BAB15472,CAB56009,AAH09415,AAH25353,Q9H5Z5,Q9ULI4 Hs.134970 DKFZp434N178|FLJ22753|KIAA1236 KIF26A variant protein|OTTHUMP00000207046|kinesin-like protein KIF26A protein-coding 1605983 KIF26B kinesin family member 26B 20379614,14702039,12477932,11181995,20936779,20595579 55083 AC093153,AC104462,AL359983,AL589763,AL592103,AL845334,CH471148,AK001019,AK125187,AK128806,AK293964,AK297303,AY923834,BC035896,BC042481,NM_018012 NP_060482,EAW77136,BAA91469,BAC86076,BAC87614,BAG57336,BAG59771,AAY17361,AAH35896,AAH42481,Q2KJY2 Hs.368096 FLJ10157|MGC35030 OTTHUMP00000037972|kinesin-like protein KIF26B protein-coding 1344489 KIF27 kinesin family member 27 1580863 12477932,15547729,12783626 55582 AK297689,NM_017576,AL354733,CH471089,AL133654,AY237536,AY237537,AY237538,BC140788,HM370398 BAG60047,NP_060046,CAI16012,CAI16013,EAW62667,EAW62668,EAW62669,EAW62670,EAW62671,CAB63770,AAP04413,AAP04414,AAP04415,AAI40789,Q86VH2,ADM86750 Hs.697514 DKFZp434D0917|RP11-575L7.3 kinesin-like protein KIF27 protein-coding 735496 KIF2A kinesin heavy chain member 2A Kinesins, such as KIF2, are microtubule-associated motor proteins. For background information on kinesins, see MIM 148760.[supplied by OMIM] 724431,1580863 18411309,17538014,17394562,16959419,16565220,16243029,15489334,15302853,14684825,12477932,9177777,17332754,19351716,19940135,19996280,20379614,20508983 724431 3796 NM_001098511,NM_004520,AC016637,AC034242,CH471137,AK297347,AK302270,AK307880,AK315866,AY317140,AY429552,BC031828,BC047544,DB452624,DB456309,EF560716,EF560728,Y08319,CR601526 NP_001091981,NP_004511,EAW51387,EAW51388,EAW51389,EAW51390,BAG59797,BAG63616,BAF98757,AAP84320,AAH31828,ABQ59026,ABQ59038,CAA69621,O00139,ABM82273,ABM85453,ACE87821,ACT64380 Hs.558351 HK2|KIF2 Kinesin, heavy chain, 2|OTTHUMP00000123384|OTTHUMP00000221863|kinesin-2|kinesin-like protein KIF2A protein-coding 1351135 KIF2B kinesin family member 2B 12368902,19060894,17538014,15489334,14702039,12893827,12477932,11416179,18029348,20950786,15303970,20852589 84643 NM_032559,AC019315,CH471109,AF333335,AK057272,AK302262,BC033802,DB457485,HC007060,HC044625 NP_115948,EAW94554,AAK20830,BAB71406,BAG63610,AAH33802,Q8N4N8,CBH19335,CBH30642 Hs.226805,Hs.728109 FLJ53902 kinesin protein|kinesin-like protein KIF2B protein-coding 734428 KIF2C kinesin family member 2C The protein encoded by this gene is a member of kinesin-like protein family. Proteins of this family are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein is important for anaphase chromosome segregation and may be required to coordinate the onset of sister centromere separation. [provided by RefSeq] 1580863 9434124,11092768,14718566,19060894,19001124,18843200,18809577,18663358,18506187,18440323,17968321,17944972,17653072,17538014,17081983,16672973,16344560,16243029,15883193,15635413,15489334,15304328,15302853,12477932,12383881,11466324,11416179,10600236,9700166,16751065,20406800,20889715,11256614,14960279,18029348,18434591,19543227,19632184,19931454,19937794,20368358,20508983 11004 NM_006845,AL592166,CH471059,AB264115,AK290688,AK300756,AK302267,AK312606,AL046197,AU130795,AY026505,BC008764,BC014924,BC032038,BT006759,BU615368,CR450302,U63743 NP_006836,CAI12996,CAI12997,CAI12998,CAI12999,CAI13001,EAX07025,BAG50306,BAF83377,BAH13342,BAH13662,AAK20168,AAH08764,AAH14924,AAH32038,AAP35405,CAG29298,AAC27660,Q5JR89,Q8N5N1,Q99661,ABM84726,ABW03629,Q5JR96 Hs.720061 KNSL6|MCAK OTTHUMP00000010067|kinesin-like 6|kinesin-like protein 6|kinesin-like protein KIF2C|kinesin-related protein 2|mitotic centromere-associated kinesin protein-coding 1352051 KIF3A kinesin family member 3A 1580863 20066075,17043677,1447303,19282970,19043453,18957512,17418584,16298999,16262723,15489334,15372022,12477932,12235292,11912492,10631107,10548469,9506951,9450952,9427749,8889548,7559760,1054846,14690447,16043481,19615732,20485362,20936779,20922562 11127 NM_007054,AC004039,AC004237,CH471062,AB209780,AF041853,AK295089,AK313359,AM177178,BC020890,BC032599,BC039592,BC045542,BI561509,BM978559,BX114214,BX953147,CR621012,CR622880 NP_008985,AAC04475,EAW62319,EAW62320,EAW62321,BAD93017,AAC72294,BAG58130,CAJ45482,AAH20890,AAH32599,AAH39592,AAH45542,Q05CT3,Q2UVF2,Q8IWH8,Q9Y496 Hs.43670 OTTHUMP00000066070|OTTHUMP00000198265|kinesin family protein 3A|kinesin-like protein KIF3A|microtubule plus end-directed kinesin motor 3A protein-coding 1315643 KIF3B kinesin family member 3B The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq] 1580863 7559760,9865700,19339549,18957512,17008358,16298999,15231748,12832475,12821668,11912492,11780052,10548469,10395937,9506951,9427749,9205841,16344560,12477932,19940036 9371 AB002357,AK098431,AK299877,BC136310,BC136311,BQ431652,BU621710,CR597580,NM_004798,AL121897,AL354800,CH471077,AL353976,DA805755 EAW76382,BAA20815,BAG61727,AAI36311,AAI36312,O15066,NP_004789,CAC16425,EAW76381 Hs.369670 HH0048|KIAA0359 kinesin-like protein KIF3B|microtubule plus end-directed kinesin motor 3B protein-coding 731540 KIF3C kinesin family member 3C 1580863 9480755,17881655,16344560,15489334,12477932,9487132,9450952,9446808 3797 BC144223,BQ432434,BX571741,DB303776,AC013449,AC064847,AJ002223,AJ002224,AJ002225,AJ002226,AJ002227,AJ002228,AJ002229,CH471053,AF018164,AF035621,AK293738,AK315324,BC018932,BC042486,BC092406,BC130423,BC132783,NM_002254 AAI44224,CAE11867,O14782,Q7Z2W5,NP_002245,AAY24261,AAX88877,CAA05252,CAA05253,CAA05254,CAA05255,CAA05256,CAA05257,CAA05258,EAX00712,EAX00713,EAX00714,AAC05302,AAC39562,BAG57162,AAH42486,AAH92406,AAI30424,AAI32784 Hs.21611 KIF3C variant protein|OTTHUMP00000201377|kinesin-like protein KIF3C protein-coding 1342700 KIF4A kinesin family member 4A Kinesins, such as KIF4A, are microtubule-based motor proteins that generate directional movement along microtubules. They are involved in many crucial cellular processes, including cell division (Zhu and Jiang, 2005 [PubMed 15625105]).[supplied by OMIM] 1580863 18684836,17081983,16964243,16565220,16344560,15772651,15625105,15489334,15326200,15297875,15031677,14702039,12927788,12809554,12477932,11736643,10978527,10773663,10559369,9168136,15148359,18604178,18502200,7929562,17353931,15166316,20711700 24137 NM_012310,AL139398,AL357752,CH471132,AB208797,AF071592,AF179308,AF277375,AJ271784,AK000638,AK022592,AK022717,AK024266,AK313133,BC003664,BC011801,BC038459,BC049218,BC050548,CR614099,DA021880,AW592235,NG_016799 NP_036442,CAI41024,CAI41487,EAX05341,EAX05342,EAX05343,BAD92034,AAD05492,AAD51855,AAF86334,CAB75427,BAG51282,BAG35952,AAH03664,AAH49218,AAH50548,O95239,Q59HG1,Q6PKB2 Hs.648326 FLJ12530|FLJ12655|FLJ14204|FLJ20631|HSA271784|KIF4|KIF4-G1|KIF4G1 chromokinesin-A|chromosome-associated kinesin KIF4A protein-coding 1346328 KIF4B kinesin family member 4B 16201836,10978527,10773663 285643 AF241316,DQ120629,AK302388,NM_001099293,AC008410 ABB92415,BAG63704,Q2VIQ3,AAI67779,NP_001092763 Hs.567824 chromokinesin-B|chromosome-associated kinesin KIF4B protein-coding 3399986 KIF4CP kinesin family member 4C pseudogene 10978527 347363 AL021786,NG_016703 KIF4P1 pseudo 1347916 KIF5A kinesin family member 5A This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq] 1580863 20936779,12477932,12355402,11986669,10964943,10491391,10441583,9858832,9624122,8889548,11278422,15256501,14600269,7514426,18029348,19110536,18853458,18640125,18500496,18245137,18203753,17420921,16489470,16169070,15452312,19913121,20628086,18794853,19644859,19674979,20049410,20219786,20439292,20444755,20498205,20508602,21044781 3798 NM_004984,NG_008155,AC022506,CH471054,AB210045,AB290174,AF063608,AK294881,AK315202,AL118561,AL707807,BC033961,BC035285,BC051752,BC140009,BC146670,BC150208,BM930000,CR603244,U06698 NP_004975,EAW97030,BAE06127,BAG06728,AAG43166,BAH11913,BAG37640,AAI40010,AAI46671,AAI50209,AAA20231,Q12840,Q9H3H7 Hs.151219 D12S1889|MY050|NKHC|SPG10 KIF5A variant protein|kinesin heavy chain isoform 5A|kinesin heavy chain neuron-specific 1|kinesin, heavy chain, neuron-specific|neuronal kinesin heavy chain protein-coding 1344841 KIF5B kinesin family member 5B 1580863 17220478,17353931,1607388,19242560,18984674,18817524,18579780,18514191,17925227,17887960,17394562,16498388,16260607,15489334,15459722,15342556,15324660,15184079,15164054,12477932,12475239,12191989,11986669,10964943,10913441,10491391,9657148,9624122,8606779,7514426,11969417,14600269,15778465,15644324,15905402,16157705,16385451,17643375,19164528,19305391,19348763,19615732,19675065,19773350,19913510,20071331,20562859,20936779 3799 NM_004521,AL161932,CH471072,AK289413,AK299542,AK307502,BC010885,BC065267,BC080604,BC111042,BC126279,BC126281,BP361225,BU633712,DC399931,X65873 NP_004512,CAH71618,EAW85976,EAW85977,BAF82102,BAG61489,AAH65267,AAH80604,AAI11043,AAI26280,AAI26282,CAA46703,P33176,Q2TA90,Q66K46,Q6P164 Hs.327736 KINH|KNS|KNS1|UKHC conventional kinesin heavy chain|kinesin 1 (110-120kD)|kinesin heavy chain|kinesin-1 heavy chain|ubiquitous kinesin heavy chain protein-coding 1318370 KIF5C kinesin family member 5C 1580863 9782088,17353931,19135897,19011756,18682247,17887960,16835241,15644324,12477932,9628581,9361024,7514426,9624122,16169070,20379614 3800 NM_004522,AC073271,AC105402,AC108512,AC144443,AC144611,CH471058,AB011103,AB073396,AB209191,AF010146,AK126689,AL050070,AL117393,BC002721,BC017298,BC025961,BC110287,BC127772,CR612604,AC153810 NP_004513,AAY24013,AAX82030,AAX82036,AAX82035,EAX11544,BAA25457,BAE45725,BAD92428,AAD01436,CAB55895,AAH02721,AAH17298,AAH25961,AAI10288,AAI27773,O60282,Q3LIE3,Q53QT4,Q57YV5,Q57YV6,Q57Z91,Q59GB8,Q6PJC4,Q6PKD1,Q9UFW7 Hs.435557,Hs.660699 FLJ44735|KIAA0531|KINN|MGC111478|NKHC|NKHC-2|NKHC2 Kinesin, heavy chain, neuron-specific|OTTHUMP00000204397|OTTHUMP00000204430|kinesin heavy chain isoform 5C|kinesin heavy chain neuron-specific 2 protein-coding 1346574 KIF6 kinesin family member 6 20044086,19023099,18846501,18510970,18222355,18222354,18222353,18073581,17975119,16189514,15489334,14702039,14574404,12477932,20679960,20659029,20854963,20933357,19060904,19752551,20215968,20379614,20403483,20886236,20927332 221458 NM_145027,AL035464,AL136087,AL160161,AL161439,AL590387,AK123217,AK131471,AL832634,BC022074,BC043552,BC098418,BC117307,BC143444,BC143445,BX649045 NP_659464,CAI42129,CAJ58469,CAJ58470,CAI19535,CAJ58471,CAJ58472,CAJ58473,CAI19716,CAJ58474,CAJ58475,CAJ58476,CAJ58477,CAJ58478,CAJ58479,BAC85560,BAD18616,CAD89950,AAH22074,AAH98418,AAI17308,AAI43445,AAI43446,Q17RI8,Q4KMP8,Q6ZMV9 Hs.588202 C6orf102|DKFZp451I2418|MGC33317|dJ1043E3.1|dJ137F1.4|dJ188D3.1 OTTHUMP00000164048|kinesin-like protein KIF6 protein-coding 1343265 KIF7 kinesin family member 7 15547730,15547729,12975309,12477932,11416179,19615732 374654 NM_198525,AC013787,CH471101,AW451733,AY358384,BC040878,BC042063,BC104044,BC112271,BC112273,BC143461 NP_940927,EAX02057,AAQ88750,AAH40878,AAI04045,AAI12272,AAI12274,AAI43462,Q2M1P5 Hs.513134 MGC120653|MGC138476|MGC138478|UNQ340 EQYK340|kinesin-like protein KIF7 protein-coding 1313687 KIF9 kinesin family member 9 1580863 15489334,14702039,12477932,11483511 64147 NM_022342,NM_182902,NM_001134878,AC104447,CH471055,AF311212,AI741745,AK023894,AK292547,AK302070,AK302974,AK314418,BC015311,BC030657,BC104479 NP_071737,NP_878905,NP_001128350,EAW64813,EAW64814,EAW64815,EAW64816,EAW64817,AAG33849,BAB14713,BAF85236,BAG63460,BAG64117,AAH15311,AAH30657,AAI04480,Q6PJI1,Q9HAQ2,ABM83394,ABM86607 Hs.373947 MGC104186 kinesin protein 9|kinesin-like protein KIF9 protein-coding 1313072 KIFAP3 kinesin-associated protein 3 The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. [provided by RefSeq] 1580863 9506951,8900189,19088126,19064610,17113389,17002498,16713569,16710414,16298999,16262723,16043481,15489334,14702039,19762545,12477932,11912492,9427749,15032605,19451621,20080650,20566859 22920 NM_014970,AL121714,AL356475,CH471067,AK026471,AK122897,AK297368,AK301912,AK303052,AK315586,BC028679,BC048012,BG707718,CR603300,U59919,AL445191,NG_012883 NP_055785,CAH72580,CAH72581,CAH72582,EAW90869,EAW90870,EAW90871,EAW90872,EAW90873,BAH12562,BAH13583,BAH13889,BAG37958,AAH28679,AAC50788,Q92845,ABM81878,ABM85040 Hs.433442 FLJ22818|KAP-3|KAP3|SMAP|Smg-GDS|dJ190I16.1 KAP-3|OTTHUMP00000034159|OTTHUMP00000034160|kinesin-associated protein 3|small G protein GDP dissociation stimulator|smg GDS-associated protein protein-coding 1349353 KIFC1 kinesin family member C1 1580863 8276466,19525938,19190132,19116309,17326138,17081983,15489334,14574404,12477932,11416179,10369922,18082152,19679349,19851445 3833 CR759793,BX088650,BX248088,CH471081,AI990093,AJ010479,AK297378,AK303239,BC000712,BC063567,BC073878,BC098438,BC121041,BC121042,BE885900,CR596317,D14678,NM_002263,AL021366,AL050332,AL662799 CAI18269,CAM26294,CAI41792,CAM25707,EAX03726,EAX03727,EAX03728,CAA09217,BAG59820,BAG64325,AAH00712,AAH63567,AAH73878,AAH98438,AAI21042,AAI21043,NP_002254,CAA16157,CAB63782,Q9BW19,BAA03509 Hs.436912 HSET|KNSL2|MGC1202|MGC149736|MGC149737 kinesin-like 2|kinesin-like protein 2|kinesin-like protein KIFC1|kinesin-related protein HSET protein-coding 1352702 KIFC2 kinesin family member C2 1580863 16169070,17474147,15489334,14702039,12477932,9115737,9110174,8619474 90990 NM_145754,AC084125,CH471162,AK055045,AY007121,BC015171,BC017311 NP_665697,EAW82085,BAB70844,AAH15171,AAH17311,Q96AC6,Q96BU4,Q96NN6,EAW82087,EAW82086 Hs.528713 kinesin-like protein KIFC2 protein-coding 1317029 KIFC3 kinesin family member C3 KIFC3 belongs to the large superfamily of kinesins, molecular motors that use the energy of ATP hydrolysis to translocate cargoes along microtubules. Members share extensive homology within a globular domain containing the microtubule- and ATP-binding sites and have a coiled-coil stalk domain that mediates oligomerization. Different kinesin family members participate in specific and diverse motile processes, such as cell division, organelle transport, and nuclear movement (Hoang et al., 1998 [PubMed 9782090]).[supplied by OMIM] 1580863 9782090,17286855,16344560,15489334,14702039,12477932,12135985,11581287,10375449,8240664,19913121,20628086,19041755,19789344 3801 NM_005550,NM_001130099,NM_001130100,AC092118,CH471092,AB209290,AF004426,AK091891,AK092013,AK291737,AK295926,AK296995,AK299431,AK302743,AK303021,AK304132,AK307846,BC001211,BC008014,BC019057,BC034234,BC041132,BC047051,BX647698,CR615160,DA989120,DC381406,DQ426879 NP_005541,NP_001123571,NP_001123572,EAW82953,EAW82954,EAW82955,EAW82956,BAD92527,AAC24153,BAF84426,BAH12222,BAH12470,BAH13030,BAH13794,BAH13882,BAH14114,AAH01211,AAH08014,AAH34234,AAH41132,AAH47051,CAI46023,ABD90538,Q5HYG9,Q9BVG8,ABM82783,ABM85972 Hs.23131 DKFZp686D23201|FLJ34694 kinesin-like protein KIFC3 protein-coding 1315717 KIN KIN, antigenic determinant of recA protein homolog (mouse) The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. [provided by RefSeq] 1580863 15635413,12853634,12751957,1923796,17045609,12359749,12754299,18029424,16511313,15831485,12525703,12477932,11880372,10964102,10779351,10504327,9266022,16385451 22944 NM_012311,AL158044,CH471072,AJ005273,AK301789,AK309059,BC017309,BX504040,CR595908,CR618602,AK296637 NP_036443,CAI12959,EAW86374,CAA06462,BAG63244,AAH17309,O60870,BAH12407 Hs.397918 BTCD|KIN17 DNA/RNA-binding protein KIN17|antigenic determinant of recA protein homolog|binding to curved DNA protein-coding 1351802 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 15896204,15879158,15730517,15310528,15209394,14607943,12847262,12794140,12559621,12477932,12454284,12393468,12351398,12121272,11904677,11323700,11169255,11163076,11009104,10820396,10429675,10424431,9799338,9768753,9686591,9430221,9430220,9378975,9288975,7716543,20878400,20935224,17207965,7749980,19421224,19326408,19309280,19279038,19218127,19181658,19169284,19120281,19046302,19032228,19000141,18945962,18848853,18830515,18778326,18755860,18718052,18687225,18681957,18668235,18643963,18643961,18632158,18574028,18571006,18543232,18340360,18269867,18186800,17990989,17868255,17522341,17498266,17497034,17493149,17490516,16774543,16709835,16571411,16508981,16403292,16141329,16112031,20580654,20600442,20643584,20650299,20652381,20670355,18604210,19450876,19489269,19493232,19527230,19630074,19664392,19683555,19711124,19761533,19828694,19846535,19850842,19861144,19875891,19897003,19926642,19934297,19936734,19968064,20056126,20082482,20082646,20137308,20173784,20173792,20193031,20200544,20207982,20210918,20210919,20210923,20331834,20356536,20371502,20426625,20483367,20492596,20519398 3802 NG_005994,NG_005990,AC011501,AF133901,AL133414,AY320039,CU041368,DQ466577,AF022045,AF135560,AF285431,AF285432,AY366237,AY366238,AY366239,AY366240,AY366241,AY388471,AY789055,AY789056,BC069344,L41267,U24076,U24078,NM_014218,U96189,DQ371555,DQ371556,DQ371557,DQ371558,DQ371559,DQ371560,DQ371561,DQ371562,GU182340,GU182342,GU182344,GU182348,GU182350,GU182352,GU182354,GU182356,GU182358,GU182360 NP_055033,AAD24474,CAQ07831,ABF13296,AAB95318,AAD48768,AAG34922,AAG34923,AAR16195,AAR16196,AAR16197,AAR16198,AAR16199,AAR26324,AAX23100,AAX23101,AAH69344,AAA69868,AAC50335,ADQ31987,AAC50337,AAB54119,O00381,P43626,Q1KMT8,Q32WE6,Q6H2H1,Q6H2H2,Q6H2H3,Q6H2H4,Q6IST4,Q9UNB9,Q9UNC0,Q9UNC1,Q9UNC2,Q9UNC6,Q9UNC7,Q9UND0,ABD38575,ADJ94526,ADJ94540,ADJ94556,ADJ94592,ADJ94605,ADJ94623,ADJ94638,ADJ94653,ADJ94671,ADJ94687 Hs.654605,Hs.720721 CD158A|KIR-K64|KIR221|NKAT|NKAT1|p58.1 CD158 antigen-like family member A|MHC class I NK cell receptor|NKAT-1|OTTHUMP00000165880|killer Ig receptor|killer cell immunoglobulin-like receptor 2DL1|killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 1|killer inhibitory receptor 2-2-1|natural killer-associated transcript 1|p58 NK cell inhibitory receptor NKR-K6|p58 NK receptor CL-42/47.11|p58 killer cell inhibitory receptor KIR-K64|p58 natural killer cell receptor clones CL-42/47.11|p58.1 MHC class-I-specific NK receptor protein-coding 1347662 KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 17445184,17200871,16929347,16774542,16698433,16698429,16571411,16469873,16403292,16112031,15896204,15879158,15848530,15730517,15699512,15248031,15146426,15140215,14607943,12559621,12473268,12121272,11750651,11169255,10850706,10190900,10097129,9476117,8662091,7749980,20878400,20935224,19326408,19309280,19279038,19234149,19218127,19181658,19169284,19120281,19032228,19000141,18945962,18945643,18848853,18830515,18778326,18755860,18687225,18681957,18668235,18643961,18572300,18571006,18543232,18498296,18322206,18292496,18269867,18091530,17882223,17868255,17498266,19421224,19392800,20580654,20600442,20643584,20650299,20652381,20670355,19046302,19450876,19489269,19493232,19522772,19527230,19552960,19630074,19664392,19683555,19761533,19789864,19846535,19850842,19861144,19875891,19877200,19897003,19926642,19934297,19936734,19968064,20056126,20082482,20082621,20082646,20173784,20173792,20193031,20200544,20207982,20210918,20210919,20331834,20356536,20371502,20426625,20483367,20492596,20519398 3803 NG_005994,NM_014219,AL133414,AY320039,CU464060,CU467816,AF285434,AY366242,L76669,U24075,EU791546,GQ921916 NP_055034,CAC40703,CAX15032,AAG34925,AAR16200,AAB36597,AAC50334,P43627,Q6H2H0,Q8N742,AAI52937,ACI49717,ACX71617 Hs.659860 CD158B1|CD158b|NKAT6|p58.2 CD158 antigen-like family member B1|MHC class I NK cell receptor|NKAT-6|killer cell immunoglobulin-like receptor 2DL2|natural killer-associated transcript 6|p58 NK receptor CL-43|p58 natural killer cell receptor clone CL-43 protein-coding 1351159 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 20875478,20525888,18778326,18830515,18755860,18687225,18681957,18668235,18643961,18632158,18571006,18543232,18322206,18292496,18289678,18269867,18158964,18091530,17882223,17868255,17522341,17498266,17490516,17285553,17200871,17145370,16929347,16571411,16403292,16112031,15896204,15879158,15730517,15489334,15297676,15248031,15227739,15217996,12559621,12477932,12121272,11958591,11904677,11169255,10497191,10424431,10196125,9768753,9751747,9497500,9430221,9430220,9378975,9234478,8692965,8662091,7716543,3501368,9059894,7749980,19421224,19326408,19309280,19279038,19218127,19181658,19169284,19120281,19046302,19032228,19000141,18848853,20580654,20600442,20643584,20650299,20652381,20670355,18604210,19394706,19450876,19489269,19493232,19522772,19527230,19552960,19630074,19664392,19683555,19711124,19761533,19789864,19837691,19846535,19850842,19861144,19875891,19897003,19926642,19934297,19936734,19968064,20056126,20077564,20082482,20082646,20137308,20173784,20173792,20193031,20200544,20207982,20210918,20210919,20356536,20371502,20483367,20492596,20519398,9148918,20331834,20878400,20935224 3804 FJ188688,FJ188689,FJ188690,FJ188691,FJ188692,FJ188693,L76663,U24074,U50546,U73395,U96190,NG_005990,AC006293,AC011501,AF133900,CU041368,CU464054,U97180,AF022048,AF135556,AF135566,AF135567,AF285435,AY789057,BC032422,BC050730,BC110613,L41268,L76662,NM_015868 ADN34697,ADN34698,ADN34699,ADN34700,ADN34701,ADN34702,AAB36591,AAC50333,AAB17730,AAC51147,AAB54120,O00382,P43628,Q32MZ1,Q32WE4,Q92803,Q9UNB4,Q9UNB5,Q9UNC5,Q9UPI8,ABM92239,ABM84717,NP_056952,AAD03160,AAD24477,CAQ07829,AAC51651,AAB95321,AAD48764,AAD48760,AAD48761,AAG34926,AAX23102,AAH32422,AAH50730,AAI10614,AAA69869,AAB36590 Hs.654605,Hs.654608 CD158B2|CD158b|GL183|KIR-023GB|KIR-K7b|KIR-K7c|KIRCL23|MGC129943|NKAT|NKAT2|NKAT2A|NKAT2B|p58 CD158 antigen-like family member B2|MHC class I NK cell receptor|NK-receptor|NKAT-2|killer cell immunoglobulin-like receptor 2DL3|killer inhibitory receptor cl 2-3|natural killer associated transcript 2|natural killer cell inhibitory receptor KIR2DL3|natural killer-associated transcript 2|p58 NK receptor CL-6|p58 natural killer cell receptor clone CL-6|p58.2 MHC class-I specific NK receptor|p58.2 MHC class-I-specific NK receptor protein-coding 1353116 KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 10190900,9430221,9430220,9234477,9059894,17207965,20878400,8946682,19326408,19309280,19304799,19304328,19279038,19218127,19169284,19134329,19046302,19032228,19000141,18945962,18945643,18848853,18778326,18718052,18668235,18643961,18586981,18571006,18347914,18314122,18292514,18186800,18082267,18074414,17868255,17610421,17498266,17490516,17200871,17171757,16403292,16366734,15896204,15853895,15780179,15778373,15778339,15730517,15670976,15580659,15333596,14700593,14500636,12902476,12826375,12794136,12616484,12559621,12538663,12477932,12370356,12055234,11994457,11754000,11489965,11169255,20580654,20600442,20643584,20650299,20652381,20670355,18604210,19394279,19450876,19489269,19509110,19527230,19589363,19630074,19675166,19679155,19683555,19700612,19761533,19846535,19861144,19875891,19897003,19926642,19968064,20082482,20082646,20173784,20173792,20179272,20193031,20200544,20210918,20210919,20331834,20356536,20371502,20426625,20483367,20492596,20519398,17498270 3805 NM_001080772,NM_001080770,NG_005994,NG_005990,AC011501,AF003123,AF110035,AL133414,AY320039,AY721623,AY725063,AY725071,AY725078,AY725085,AY725091,AY725098,AY725105,AY727757,AY727758,AY727759,AY727760,AY727761,AY727762,AY727763,AY727764,CH471135,AF002256,AF002979,AF002980,AF002981,AF002982,AF034771,AF034772,AF034773,AF276292,AF285436,AK309531,AK310066,AY052496,AY052497,AY052498,AY223512,AY223513,AY223514,AY223515,AY250088,AY359817,AY601812,AY789058,AY789059,AY789060,AY789061,AY789062,BC028137,BC041611,BM918119,DQ266438,DQ272466,EU194340,NM_002255,EU194342,U71199,U73394,X97229,X99479,X99480,X99481,Y13054,EU194341,AM404442,DQ371563,DQ371564,DQ371565,DQ371566,DQ371567,DQ371568,DQ371569,GU182341,GU182343,GU182346 NP_002246,NP_001074241,NP_001074239,AAB61926,AAD24763,CAC40705,CAC40706,CAC40707,CAC40708,CAC40709,CAC40710,CAC40711,AAW32125,AAW32128,AAW32130,AAW32131,AAW32129,AAW32132,AAW32127,AAW32126,AAW32088,AAW32089,AAW32090,AAW32091,AAW32092,AAW32093,AAW32094,AAW32095,EAW72279,EAW72280,EAW72281,EAW72282,EAW72283,AAB61282,AAB71387,AAB71388,AAB71389,AAB71390,AAB95164,AAB95165,AAB95166,AAG44820,AAG34927,AAL14211,AAL14212,AAL14213,AAO46034,AAO46035,AAO46036,AAO46037,AAP02958,AAQ83723,AAT11793,AAX23103,AAX23104,AAX23105,AAX23106,AAX23107,AAH41611,ABB73033,ABB84493,ABW73959,ADQ32875,ABW73960,ABW73961,AAB49756,AAC51146,CAA65868,CAA67842,CAA67843,CAA67844,CAA73497,O00547,O43803,Q32WD9,Q32WE0,Q32WE1,Q32WE2,Q5IH82,Q5IH87,Q5IHW5,Q5IHW6,Q5IHW9,Q6UV36,Q86U48,Q86VF1,Q86WL6,Q86WL7,Q8N736,Q8N737,Q8N738,Q8N739,Q8N740,Q8N741,Q8NHK1,Q96L47,Q96L48,Q96L49,Q99706,ABD38576,ADJ94534,ADJ94550,ADJ94574,CAL49524 Hs.651287,Hs.661219 CD158D|G9P|KIR103|KIR103AS CD158 antigen-like family member D|KIR-103AS|MHC class I NK cell receptor KIR103AS|NK cell receptor|OTTHUMP00000068612|OTTHUMP00000068614|OTTHUMP00000068615|killer Ig receptor|killer cell immunoglobulin-like receptor 2DL4|killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 4|killer cell inhibitory receptor 103AS|natural killer cell inhibitory receptor protein-coding 1607012 KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 20528243,20580654,20600442,20643584,20650299,20652381,20670355,16722215,19664392,19683555,19761533,19846535,19850842,19861144,19875891,19897003,19926642,19936734,19968064,20082482,20082646,20137308,20173784,20173792,20193031,20200544,20207982,20210918,20210919,20331834,20356536,20371502,20426625,20456039,20483367,20492596,20519398,19630074,19527230,19493232,19489269,19450876,19421224,19326408,19309280,19279038,19218127,19169284,19120281,19046302,19032228,19000141,18945962,18848853,18830515,18778326,18687225,18668235,18643961,18638658,18571006,18509341,18498296,18461314,18297378,18074414,17868255,17592337,17557377,17498266,17490516,17464504,17371997,17215859,17200871,16774542,16698429,16403292,15896204,15187115,15140215,12185535,12121272,11086080,10820258,20585770,20878400 57292 AM084878,NG_005994,AF204904,AF217485,AL133414,AY320039,CU459006,EF102434,EF473257,EF473258,EF473261,EF473264,AF204903,AF217487,NM_020535,EU031916,FJ804068,GU063856,GU182355 CAJ29894,AAF74055,AAG40152,CAC40714,CAQ10171,ABK97618,ABR88101,ABR88102,ABR88105,ABR88108,AAF72845,AAG37101,Q0KH99,Q8N109,AAI60063,NP_065396,ABW04729,ACY78696,ADI95449,ADJ94650 Hs.676464 CD158F|KIR2DL5|KIR2DL5.1|KIR2DL5.3|KIR2DL5B killer cell immunoglobulin-like receptor 2DL5A|killer cell immunoglobulin-like receptor KIR2DL5A|killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 5A|killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5|killer-cell Ig-like receptor protein-coding 1605151 KIR2DL5B killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 20650299,19218127,19120281,18498296,18461314,17215859,16403292,12185535,11086080,10820258,19450876,19683555,19761533,20193031,20200544,20426625,20492596,20878400 553128 NG_005994,NM_001018081,AF204905,AF217486,AF272157,AL133414,AY320039,AF271607,AF271608,AJ544587 NP_001018091,AAG44797,AAG44777,AAG44778,CAD67580,Q8NHK3,Q8NHK4,AAI56861,Q8NHK5 Hs.676464 KIR2DL5|KIR2DL5.2|KIR2DLX CD158 antigen-like family member F2|killer cell Ig-like receptor|killer cell immunoglobulin-like receptor 2DL5B|killer cell immunoglobulin-like receptor 2DLX protein-coding 1605452 KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 19527230,19493232,19489269,19450876,19421224,19309280,19279038,19218127,19169284,19000141,18945962,18848853,18830515,18778326,18687225,18668235,18643961,18571006,18186800,18074414,17498266,17490516,16403292,10820258,20878400,19683555,19761533,19846535,19850842,19861144,19897003,19926642,20082482,20193031,20200544,20210918,20426625,20492596,20519398,20580654,20600442,20650299,20670355 554300 NG_005990,NG_005994,AC011501,AF204908,AY320039 KIR15|KIR2DL6|KIRY|KIRZ pseudo 1347492 KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 18681957,18668235,18643963,18643961,18571006,18340360,18263639,18074414,17882223,17868255,17617375,17498266,17445179,16829306,16806233,16698429,16504727,16403292,16185272,16141329,16112031,15896204,15310528,15140215,15057824,12559621,12477932,11169255,10527385,10424431,9464792,9430221,9430220,7650491,8627176,19421224,19410616,19326408,19309280,19279038,19218127,19181658,19169284,19120281,19046302,19032228,19000141,18945962,18848853,18778326,18755860,18687225,20528243,20580654,20600442,20643584,20650299,20652381,20670355,19450876,19489269,19493232,19500138,19527230,19630074,19664392,19683555,19761533,19830740,19846535,19850842,19861144,19875891,19877200,19897003,19926642,19934297,19936734,19968064,20082482,20082646,20093094,20137308,20173784,20173792,20193031,20200544,20207982,20210919,20331834,20356536,20371502,20426625,20483367,20492596,20519398,20826009,20878400 3806 NG_005994,AL133414,AY320039,CU459006,AF022046,AF285437,AM999888,BC096725,X89892,X98858,NM_014512,EF690312,GU182339,GU182347,GU182352,GU182355,GU182359 NP_055327,CAC40716,CAQ10173,AAB95319,AAG34928,CAQ53833,CAA61982,CAA67364,Q14954,Q30189,Q9UNC4,AAI66637,ABV55503,ADJ94522,ADJ94588,ADJ94628,ADJ94651,ADJ94681 Hs.720721 CD158H|CD158a|p50.1 CD158 antigen-like family member H|KIR2DL1-KIR2DS1|MHC class I NK cell receptor Eb6 ActI|killer cell immunoglobulin-like receptor 2DS1|killer cell immunoglobulin-like receptor KIRDS1|killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 1|killer-cell immunoglobulin-like receptor protein-coding 1344459 KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 19630074,19664392,19683555,19761533,19830740,19846535,19850842,19861144,19875891,19877200,19897003,19926642,19934297,19936734,19968064,20082482,20082621,20082646,20137308,20173784,20173792,20193031,20200544,20207982,20210918,20210919,20331834,20356536,20371502,20426625,20483367,20492596,20519398,18074414,17882223,17868255,17767567,17498266,17497034,17490516,17445184,17445179,17200871,16929347,16824023,16623599,16504727,16403292,16112031,15896204,15699512,15580655,15356118,15194195,15146426,15057824,14607943,14514651,12668644,12591902,12559621,12477932,11470774,11369787,11172020,11169398,11169255,10658980,10424431,9497500,9490415,8662091,7749980,7716543,18091530,8627176,19527230,19493232,19489269,19450876,19421224,19410616,19326408,19309280,19279038,19218127,19181658,19169284,19120281,19046302,19000141,18976447,18945962,18848853,18830515,18778326,18755860,18687225,18681957,18668235,18643961,18571006,18340360,18292496,18158964,20802150,20528243,20580654,20600442,20643584,20650299,20652381,20670355,20878400 100132285 NM_012312,NG_005994,AL133414,AY320039,CU467816,AF074087,AF135565,AF285438,AJ002102,AJ002103,AJ002104,AJ002105,AM409094,AY366243,AY366244,BC108917,BC119631,BC119632,BC125146,BC126856,L41347,L76667,L76668,U24079,X89893 AAI19632,NP_036444,CAC40717,CAC40718,CAX15031,AAC26790,AAD48759,AAG34929,CAA05182,CAA05183,CAA05184,CAA05185,CAL64379,AAR16201,AAR16202,AAI08918,AAI19633,AAI25147,AAI26857,AAA65225,AAB36595,AAB36596,AAC50338,CAA61983,O43753,O43754,O43755,O43756,O75579,P43631,Q14949,Q14950,Q6H2G8,Q9UNB6 Hs.512572,Hs.654605 183ActI|CD158J|CD158b|MGC120018|MGC120020|MGC149477|MGC149478|NKAT5|cl-49 1060P11.9.2|CD158 antigen-like family member J|MHC class I NK cell receptor|NK receptor 183 ActI|NKAT-5|killer cell immunoglobulin-like receptor 2DS2|killer-cell Ig-like receptor|natural killer associated transcript 5|natural killer cell inhibitory receptor|natural killer-associated transcript 5|p58 KIR|p58 NK receptor CL-49|p58 killer cell inhibitory receptor KIR-K7a|p58 natural killer cell receptor clone CL-49 protein-coding 1350757 KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 18668235,18643961,18571006,18480828,18340360,18074414,17882223,17868255,17498266,17462498,16829306,16508981,16403292,15896204,12559621,9430221,9430220,8662091,7749980,8765026,19630074,19527230,19493232,19489269,19450876,19421224,19410616,19326408,19309280,19279038,19218127,19181658,19169284,19120281,19046302,19032228,19005473,19000141,18848853,18830515,18778326,18764809,18687225,18681957,20528243,20580654,20600442,20643584,20650299,20652381,20670355,19500138,19664392,19683555,19761533,19846535,19850842,19861144,19875891,19897003,19926642,19934297,19936734,19968064,20082482,20082646,20137308,20173784,20193031,20200544,20207982,20210918,20210919,20331834,20356536,20371502,20426625,20483367,20492596,20519398,20173792,20878400,20371915 3808 NG_005994,NM_012313,AL133414,AY320039,AF022047,AY789063,L76670,X97231,GU182339,GU182347,GU182351 NP_036445,AAB95320,AAX23108,AAB36598,CAA65870,Q14952,Q32WD8,AAI56609,ADJ94516,ADJ94582,ADJ94615 Hs.714920 NKAT7 MHC class I NK cell receptor|NKAT-7|killer cell immunoglobulin-like receptor 2DS3|killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 3|natural killer cell inhibitory receptor|natural killer-associated transcript 7 protein-coding 1348050 KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 15730517,15265913,15219381,14607943,12477932,12445308,12391228,11390475,11169255,10816589,10424431,9521070,9378975,8765026,8662091,15896204,20878400,7749980,19421224,19410616,19326408,19309280,19279038,19218127,19181658,19169284,19120281,19046302,19032228,19000141,18945962,18848853,18830515,18778326,18687225,18681957,18668235,18643961,18632158,18571006,18463675,18444913,18340360,18186800,17868255,17498266,17493145,17490516,17257315,17200871,17145370,16641046,16403292,20580654,20600442,20643584,20650299,20652381,20670355,19450876,19489269,19493232,19527230,19552960,19589363,19630074,19664392,19683555,19761533,19846535,19850842,19858347,19859704,19861144,19875891,19897003,19926642,19934297,19936734,19968064,20034528,20082482,20082646,20137308,20173784,20173792,20193031,20200544,20207982,20210918,20210919,20331834,20356536,20371502,20426625,20483367,20492596,20519398,20062104 3809 GU182338,GU182342,GU182344,GU182350,GU182353,GU182354,GU182356,GU182358,GU182360,NG_005990,AC011501,AF134312,AF134316,AL133414,AY523799,AY523801,AY523803,CH471135,CU151839,AF002255,AF135563,AJ417554,AJ417555,AJ620615,AJ620616,AY102623,AY102624,AY366245,AY366246,AY388472,AY789064,BC096694,BC101977,BC103693,BC108918,BC125147,BC127084,BC144566,NM_012314,BC171788,L76671,U24077,U96188,X94609 ADJ94510,ADJ94543,ADJ94559,ADJ94608,ADJ94634,ADJ94640,ADJ94655,ADJ94674,ADJ94692,Q9UQL7,NP_036446,AAD24479,AAS73157,AAS73158,AAS73159,EAW72287,EAW72288,CAQ09200,AAB61281,AAD48757,CAD10378,CAD10379,CAF05810,CAF05811,AAM52329,AAM52330,AAR16203,AAR16204,AAR26325,AAX23109,AAH96694,AAI01978,AAI03694,AAI08919,AAI25148,AAI27085,AAI71788,AAB36599,AAC50336,AAB54118,CAA64317,O00380,P43632,Q32MZ0,Q32WD7,Q4KN55,Q6H2G6,Q6H2G7,Q6QWD7,Q6QWD9,Q86VI5,Q86VI6,Q8NHI9,Q8NHJ0,AAI44567,Q9UNB8 Hs.654608 CD158I|KIR1D|KIR412|KKA3|MGC120019|MGC125315|MGC125317|NKAT8 CD158 antigen-like family member I|KIR antigen 2DS4|MHC class I NK cell receptor|NKAT-8|OTTHUMP00000199030|P58 natural killer cell receptor clones CL-39/CL-17|killer cell immunoglobulin-like receptor 2DS4|killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 4|killer inhibitory receptor 4-1-2|natural killer cell inhibitory receptor|natural killer-associated transcript 8|p58 NK receptor CL-39/CL-17 protein-coding 1345824 KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 16829306,16698433,8662091,19421224,19410616,19326408,19309280,19279038,19218127,19181658,19169284,19120281,19046302,19032228,19000141,18945962,18848853,18830515,18778326,18765192,18687225,18682925,18681957,18668235,18643961,18638658,18624290,18571006,18555529,18498296,18315912,17868255,17592337,17498266,17490516,17174747,16698429,16403292,15896204,14607943,12559621,11144295,8765026,7749980,20865034,20878400,20580654,20600442,20643584,20650299,20652381,20670355,19450876,19493232,19500138,19527230,19630074,19664392,19683555,19761533,19846535,19850842,19861144,19875891,19897003,19926642,19934297,19936734,19968064,20082482,20082646,20137308,20173784,20173792,20193031,20200544,20207982,20210918,20210919,20331834,20356536,20371502,20426625,20483367,20492596,20519398 3810 NM_014513,NG_005994,AL133414,AY320039,CU459006,AF208054,AF272389,AY366247,AY366248,L76672,GU182355 NP_055328,CAC40715,CAQ10172,AAG35724,AAK83693,AAR16205,AAR16206,AAB36600,Q14953,Q6H2G4,Q6H2G5,Q7L8K3,Q8NHK2,AAI60061,ADJ94648 Hs.714920 CD158G|NKAT9 CD158 antigen-like family member G|MHC class I NK cell receptor|NKAT-9|killer cell immunoglobulin-like receptor 2DS5|killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 5|natural killer cell inhibitory receptor|natural killer-associated transcript 9 protein-coding 735895 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 20887224,21115737,19630074,19527230,19522772,19493232,19489269,19450876,19421224,19386717,19326408,19309280,19279038,19218127,19211742,19181658,19169284,19120281,19118512,19116110,19046302,19032228,19019897,19008943,19000148,19000141,18945962,18941220,18848853,18830515,18800608,18778326,18718052,18687225,18668235,18643961,18638658,18632158,18614872,18571006,18515573,18502829,18453594,18385451,18358829,18340360,18331531,18301382,18269867,18186800,17990989,17950922,17868255,17714418,17694054,17498266,17493145,17490516,17462498,17385087,17383044,7716543,17301953,17182560,17182537,16818466,16805919,16508981,16403292,16210627,15896204,15784466,15730517,15580659,15217996,14662867,14607943,12826375,12794136,12559621,12538663,12477932,12244166,11904677,11859120,11733001,11207248,11098931,10774747,9894849,9430221,9430220,9059894,8777725,8760804,8662091,8046332,7749980,17202323,15942906,17200871,7650366,20631304,20528243,20580654,20600442,20643584,20650299,20652381,20670355,20818412,18549610,19151793,19176033,19411600,19664392,19675166,19683555,19752231,19761533,19846535,19850842,19861144,19874556,19875891,19897003,19926642,19934297,19936734,19968064,20061407,20082482,20082646,20131260,20137308,20173792,20193031,20200544,20207982,20210918,20210919,20230527,20331834,20356536,20371502,20426625,20483367,20492596,20519398,19859704,20210921,20664023,20028428,20878400,20935224 3811 BC101540,BC101542,DQ178659,EF462885,EF472674,EF472675,EF472676,EF472677,EF472678,EF472679,L41269,L76664,U30273,U30274,U31416,U33328,X94262,AF262970,NM_013289,NG_005990,AC011501,AF104856,AF105239,AY523806,AY723746,AY760023,AY760024,AY760025,AY760026,AY760027,AY760028,AY760029,AY760030,AY760031,AY760034,AY760035,AY760036,CH471135,AF022049,AF103010,AF103011,AF103012,AF103013,AF208688,AF208689,AF262968,AF262969,AF262971,AF262972,AF262973,AF262974,AJ417556,AJ417557,AY366236,AY366249,AY366250,AY366251,AY366252,AY760050,AY789065,AY789066,AY789072,BC028206,NG_021414,DQ371579,DQ371580,DQ371581,DQ371582,DQ371583,DQ371584,DQ371585,DQ371586,DQ371587,FJ158650,GU182341 AAI01541,AAI01543,ABA56493,ABS53052,ABR88120,ABR88121,ABR88122,ABR88123,ABR88124,ABR88125,AAA69870,AAB36592,AAB52521,AAB52522,AAC23725,AAC23726,CAA63938,P43629,Q14946,Q15702,Q1PSF1,Q5UCD7,Q5UCD8,Q5UCD9,Q5UCE1,Q5UCE2,Q646T8,Q6H2G0,Q6H2G1,Q6H2G2,Q6H2G3,Q6QWD6,Q8N0X6,Q8N0Z7,Q8N152,Q8N6C9,Q8NHK7,Q8NHK8,Q8NHK9,Q8NHL0,Q8NHL7,Q9NZF5,Q9NZF6,Q9UEQ9,Q9UER0,Q9UER1,Q9UER2,ABM82005,ABM85187,AAH28206,NP_037421,AAF61291,AAF61292,AAS73160,AAU29054,AAV32436,AAV32437,AAV32438,AAV32439,AAV32440,AAV32441,AAV32442,AAV32443,AAV32444,AAV32447,AAV32448,AAV32449,EAW72284,EAW72285,EAW72286,AAB95322,AAC83927,AAC83928,AAC83929,AAC83930,AAF29520,AAF29521,AAK30055,AAK30056,AAK30058,AAK30059,AAK30060,AAK30061,CAD10380,CAD10381,AAR16194,AAR16207,AAR16208,AAR16209,AAR16210,AAX89521,AAX23110,AAX23111,AAX23117,AAK30057,ABD38578,ACJ37424,ADJ94535 Hs.645228 CD158E1|KIR|KIR3DL1/S1|MGC119726|MGC119728|MGC126589|MGC126591|NKAT3|NKB1|NKB1B CD158 antigen-like family member E|HLA-BW4-specific inhibitory NK cell receptor|KIR antigen 3DL1|MHC class I NK cell receptor|NK-receptor|NKAT-3|OTTHUMP00000068688|killer Ig receptor|killer cell immunoglobulin-like receptor 3DL1|killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1|natural killer-associated transcript 3|p70 NK receptor CL-2/CL-11|p70 killer cell inhibitory receptor|p70 natural killer cell receptor clones CL-2/CL-11 protein-coding 1343393 KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 iller cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq] 1580863 7716543,19630074,19589363,19527230,19489269,19479859,19450876,19326408,19309280,19279038,19218127,19165527,19046302,19032228,19019897,19000141,18945962,18941190,18848853,18778326,18718052,18668235,18643961,18571006,18347914,18186800,18074414,18061949,17868255,17661911,17498266,17490516,16962036,16948642,16767680,16403292,15896204,15730517,15304002,14607943,14562047,12559621,12538663,12477932,11904677,11859120,11207248,10861046,10774747,9430221,8777725,8760804,8662091,8617928,7749980,20147700,20580654,20600442,20643584,20650299,20652381,20670355,19683555,19761533,19846535,19858347,19861144,19875891,19897003,19926642,19953898,19968064,20082482,20082646,20137308,20173784,20173792,20193031,20200544,20210918,20210919,20331834,20356536,20426625,20483367,20492596,20519398,20878400 3812 NM_006737,NG_005990,AC011501,AY523809,AY523812,CH471135,CU464063,Y11358,AF208683,AF208684,AF208685,AF208686,AF208687,AF208690,AF262965,AF262966,AF262967,AF263617,AJ276125,AY059418,AY059419,AY059420,AY366256,AY789067,AY789068,AY789069,AY789070,AY789071,BC105678,BC107951,CR595187,CR609522,DQ256504,EF582384,L41270,L76665,L76666,U30272,X93595,X93596,X94373,X94374,NG_012802,DQ371620,DQ371621,DQ371622,DQ371623,DQ371624,DQ371625,DQ371626,DQ371627,DQ371628,GU065736,GU182341,GU182348 NP_006728,AAS73161,AAS73162,EAW72289,EAW72290,CAQ08880,CAA72192,AAF29515,AAF29516,AAF29517,AAF29518,AAF29519,AAF29522,AAK30052,AAK30053,AAK30054,AAK30062,CAC35466,AAL27093,AAL27094,AAL27095,AAR16214,AAX23112,AAX23113,AAX23114,AAX23115,AAX23116,AAI05679,AAI07952,ABB71822,ABU62836,AAA69871,AAB36593,AAB36594,AAB52520,CAA63791,CAA63792,CAA64150,CAA64151,O78200,P43630,Q2XSU5,Q32WD0,Q32WD1,Q32WD2,Q6H2F6,Q6QWD4,Q6QWD5,Q8N734,Q8NHI4,Q8NHI5,Q8NHI6,Q8NHK6,Q8NHL1,Q8NHL2,Q95366,Q95368,Q9BQU0,Q9NZF4,Q9NZF7,Q9NZF8,Q9NZF9,Q9NZG0,Q9NZG1,ABD38581,ADI95458,ADJ94537,ADJ94596 Hs.645228 CD158K|MGC125321|NKAT4|NKAT4B|p140 CD158 antigen-like family member K|KIR antigen 3DL2|MHC class I NK cell receptor|NKAT-4|killer Ig receptor|killer cell immunoglobulin-like receptor 3DL2|killer cell immunoglobulin-like receptor KIR3DL2|killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 2|natural killer associated transcript 4|natural killer cell inhibitory receptor|natural killer-associated transcript 4|p70 NK receptor CL-5|p70 killer cell inhibitory receptor|p70 natural killer cell receptor clone CL-5 protein-coding 1352085 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq] 1580863 20580654,20600442,20643584,20650299,20652381,20670355,19630074,19527230,19489269,19450876,19326408,19279038,19309280,19218127,19169284,19046302,19032228,19000141,18945962,18848853,18778326,18668235,18643961,18571006,18347914,18186800,18074414,17900289,17868255,17498266,17490516,16823588,16634863,16403292,16391939,15896204,15778373,15730517,11960306,11513144,9862332,12477932,19683555,19761533,19846535,19861144,19875891,19897003,19926642,19968064,20082482,20082646,20173784,20173792,20193031,20200544,20210919,20331834,20356536,20426625,20483367,20492596,20519398,20210918,20878400 115653 BC136283,NG_005990,NG_005994,AC006293,AF072410,AL133414,AY083461,AY083462,AY320039,AY987937,AY987938,AY987939,AY987940,AY987941,AY987942,AY987943,AY987950,AY987958,CH471135,AF352324,AJ938052,NM_153443,AJ938053,AJ938054,AJ938055,AJ938056,AJ938057,AJ938058,AJ938059,AJ938060,AJ938061,AJ938062,AJ938063,AJ938064,AJ938065,AJ938066,BC143802,AM493896,GU182354 NP_703144,AAD03159,AAC99763,CAC40702,AAM00023,AAM00024,ABC03227,ABC03228,ABC03229,ABC03230,ABC03231,ABC03232,ABC03233,ABC03234,ABC03226,EAW72274,AAK30258,CAI79387,CAI79388,CAI79389,CAI79390,CAI79391,CAI79392,CAI79393,CAI79394,CAI79395,CAI79396,CAI79397,CAI79398,CAI79399,CAI79400,CAI79401,AAI36284,AAI43803,Q8N743,ADJ94637,CAM35484 Hs.645224 CD158Z|KIR3DL7|KIR44|KIRC1 CD158 antigen-like family member Z|killer cell Ig-like receptor KIR3DL7|killer cell immunoglobulin-like receptor 3DL3|killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 3|killer cell inhibitory receptor 1 protein-coding 1603443 KIR3DP1 killer cell immunoglobulin-like receptor, three domains, pseudogene 1 Killer cell Ig-like receptors (KIRs) enable natural killer cells to survey the expression of individual HLA class I molecules. KIR genes cluster in a 150-kb region of chromosome 19q13.4, and the organization of the KIR gene cluster varies extensively among individuals. KIR3DP1 is designated a pseudogene because its RNA is normally undetectable in peripheral blood mononuclear cells (PBMCs). However, some individuals have a duplication of the KIR3DP1-KIR2DL4 (MIM 604945)-KIR3DL1/KIR3DS1 (MIM 604946) gene cluster that is associated with a functional KIR3DP1 gene (Gomez-Lozano et al., 2005 [PubMed 15580659]). For further background information on KIRs, see MIM 604936.[supplied by OMIM] 20600442,20650299,20652381,19527230,19450876,19405872,19309280,19218127,17498266,16403292,15580659,15194195,10820258,19897003,20082482,20082646,20193031,20200544,20210918,20670355,20878400,20426625,20492596,18186800,18347914,18571006,18668235,18687225,18778326,18848853,18945962,19000141,19169284,19279038,19683555,19761533,19846535,19861144 548594 NG_005990,NG_005994,AC011501,AF133901,AF204919,AL133414,AY320039,AJ630586 AAD24475,CAC40704,A8MWS1,Q7L8K4,CAF74822 Hs.690615 CD158c|KIR2DS6|KIR3DS2P|KIR48|KIRX pseudo 1352733 KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq] 1580863 17694054,17687550,17646980,17641029,17592337,17490516,17301953,17202323,17200871,17182560,16805919,16698433,16698429,16508981,15942906,15896204,15580659,12826375,12477932,12134147,11859120,11098931,9430221,9430220,9059894,8662091,19421224,19411600,19326408,19309280,19279038,19218127,19211742,19181658,19169284,19120281,19046302,19032228,19019897,19008943,19000141,18945962,18848853,18830515,18778326,18687225,18668235,18643961,18638658,18571006,18351333,18340360,18331531,18317000,18305035,18297378,18074414,18025129,17997746,17990989,17882223,17868255,20562327,20643584,20650299,20652381,20670355,20818412,20600442,20528243,20580654,19386717,19450876,19454667,19489269,19493232,19522772,19527230,19630074,19664392,19683555,19761533,19846535,19850842,19859704,19861144,19874556,19875891,19897003,19926642,19934297,19936734,19968064,20082482,20082646,20124216,20131260,20137308,20173784,20173792,20193031,20207982,20210918,20210919,20230527,20331834,20356536,20371502,20426625,20483367,20492596,20519398,20878400 3813 NG_005994,AF001883,AL133414,AY320039,AY760032,AF022044,AJ417558,AK301140,BC098107,BC098288,BC105679,EF370406,EF582383,L76661,U73396,X97232,X97233,NM_001083539,AY760055,AY760056,DQ371588,DQ371589,DQ371590,DQ371591,DQ371592,DQ371593,DQ371594,DQ371595,EU156175,GU182339,GU182347,GU182352,GU182355,GU182359 NP_001077008,AAB94765,CAC40712,CAC40713,AAV32445,AAB95317,CAD10382,BAG62732,AAH98107,AAH98288,AAI05680,ABU62835,AAB36589,AAC51148,CAA65871,CAA65872,O43469,P78403,Q0VGG8,Q14943,Q4KN23,Q5UCD2,Q8N735,Q99564,Q99565,Q9UQA2,Q8NHI8,ADJ94684,AAX89526,AAX89527,ABD38579,ABX88986,ADJ94519,ADJ94585,ADJ94625,ADJ94649 Hs.683173 CD158E2|KIR-123FM|KIR-G1|MGC119726|MGC119728|MGC125316|NKAT10 MHC class I NK cell receptor|NKAT-10|killer Ig receptor|killer cell immunoglobulin-like receptor 3DS1|killer cell immunoglobulin-like receptor KIR3DS1|killer cell immunoglobulin-like receptor three domains short cytoplasmic tail 1|natural killer-associated transcript 10 protein-coding 1602993 KIR3DX1 killer cell immunoglobulin-like receptor, three domains, X1 20098747,11441184,12477932,16911775,14702039,20237496 90011 NR_026716,AC009892,AC104536,CH471135,CU024913,CU234142,AK024467,BC033195,BC171827,BC171832,BC171834,BC171838,BC171839,DQ224421 EAW72255,EAW72256,CAQ09340,CAQ09961,BAB15757,ABB53378 Hs.288520 FLJ00060|KIR3DL0|LENG12 pseudo 1349040 KIRREL kin of IRRE like (Drosophila) NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM] 1580863 20507940,18562307,18922801,18258597,17968527,16968734,15489334,15144186,14702039,12865409,12660326,12646566,12578837,12477932,12424224,11416156 55243 NM_018240,AL139010,CH471121,AK001707,AK022708,AK090554,AK297788,AY017369,AY302131,BC025268,BC051356,BC067097,BC082969,BC109192,BC109193 NP_060710,CAH73881,CAH73882,CAH73883,EAW52852,EAW52853,EAW52854,EAW52855,BAA91850,BAB14192,BAC03476,BAG60129,AAK00529,AAP59845,AAH25268,AAH51356,AAH67097,AAH82969,AAI09193,AAI09194,Q5W0F9,Q5W0G0,Q8NBG7,Q96J84 Hs.609291,Hs.657006 FLJ10845|MGC129542|MGC129543|NEPH1 OTTHUMP00000024055|OTTHUMP00000024056|kin of IRRE-like protein 1|kin of irregular chiasm-like protein 1|nephrin related|nephrin-like protein 1 protein-coding 1318234 KIRREL2 kin of IRRE like 2 (Drosophila) 12837264,16741999,15489334,15340161,12975309,12504092,12477932,11230166,8889548,19703278,20237496,19913121,20628086 84063 NM_199180,NM_032123,NM_199179,AC002133,AD000864,AX521478,AK307865,AL136654,AY305301,AY305302,AY358742,BC007312,BC064925,BU730182,CR593108 NP_954649,NP_115499,NP_954648,CAD52967,CAB66589,AAP72166,AAP72167,AAQ89102,AAH07312,AAH64925,Q6UWL6 Hs.145729 DKFZP564A1164|DKFZp564A1164|FILTRIN|MGC15718|NEPH3|NLG1 kin of IRRE-like protein 2|kin of irregular chiasm-like 2|kin of irregular chiasm-like protein 2|nephrin-like 3|nephrin-like gene 1|nephrin-like protein 3 protein-coding 1322814 KIRREL3 kin of IRRE like 3 (Drosophila) NEPH2 is a member of the nephrin-like protein family, which includes NEPH1 (KIRREL; MIM 607428) and NEPH3 (KIRREL2; MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM] 20195266,20585627,12424224,19012874,18951430,18464913,15489334,14702039,12975309,12477932,11347906,8889548,20237496,20379614 84623 AY358760,BC042432,BC065255,BC071838,BC101775,BC101801,BM671831,W75978,NM_001161707,AP000741,AP000806,AP001783,AP002832,AP002833,CH471065,AB058770,AF480410,AK092047,AK300108,AY358743,NM_032531,NG_012971 AAQ89103,AAQ89120,AAI01776,AAI01802,Q8IZU9,NP_115920,NP_001155179,EAW67698,EAW67699,EAW67700,BAB47496,AAN73042,BAG61903 Hs.657065 KIAA1867|KIRRE|MGC126824|MGC126850|MRD4|NEPH2|PRO4502 kin of IRRE-like protein 3|kin of irregular chiasm-like protein 3|nephrin-like 2|nephrin-like protein 2 protein-coding 1352127 KISS1 KiSS-1 metastasis-suppressor This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may function to inhibit chemotaxis and invasion, attenuating metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq] 2292123,2292132,2289400,2292135,2302169,2302170,2292128,2292136,2298668,2292127,1580863 20699467,20734064,9185708,19898965,16754659,20529119,16710414,16650418,16283480,16260418,16146758,16034182,15598687,15596153,15592684,15500545,15498874,15489334,15300798,15219839,15144186,15020672,14977840,12944565,12898236,12879005,12650602,12574233,12547718,12477932,12414911,11994395,11606374,11527393,11457843,11385580,11060311,9806840,11387329,9192814,19212644,19201817,19141682,19112386,19109311,18682503,18644390,18583061,18437914,18434521,18351443,18317999,18211678,18005407,17914099,17695545,17609410,17488799,17334929,17323132,17023533,16964286,16731583,8944003,20534720,20631455,17520389,17562263,17659469,17959544,18252956,18395325,19154616,19286835,19533666,19536175,19582702,19645016,19895172,20022159,20066900,20237166,20303258,20379614,20392988,20362959,19955756,20446240 2292123,2292132,2289400,2292135,2302169,2302170,2292128,2292136,2298668,2292127 3814 AL592114,NM_002256,CH471067,AF218017,AK291695,AY117143,BC022819,CR594921,CR603087,CR609203,CR618718,CR622101,CR625917,U43527,HC007062 NP_002247,CAH71226,EAW91506,EAW91507,AAG17259,BAF84384,AAM78592,AAH22819,AAC79512,Q15726,ABM83725,ABM87045,CBH19336 Hs.95008 KiSS-1|METASTIN|MGC39258 kisspeptin|kisspeptin-1|malignant melanoma metastasis-suppressor|metastasis-suppressor KiSS-1 protein-coding 731975 KISS1R KISS1 receptor The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq] 70752,2292123,2292127,1599279,704404,1599280,1580863 11387329,19506390,19489874,19453261,19331211,19286835,19201817,19112386,18977201,18772143,18682503,18583061,18463157,18005407,17914099,17334928,17700012,17023533,16731583,16322390,16309735,16034182,15598687,15596153,15519892,15057824,15020672,14977840,14573733,12944565,12898236,12788881,12477932,12414911,11994395,11527393,11457843,11414709,11385580,10100623,20734064,20371656,16754659,12879005,18395325,19846537,20237166 70752,2292123,2292127,1599279,1599280 84634 AJ309020,AY029541,AY253981,AY253982,BC140825,BC141812,CA432866,CR621438,EU883577,CQ891716,AA887801,AB051065,AF343725,NM_032551,NG_008277,AC005379,CH471139,CQ878955 CAC40817,AAK33126,AAP82929,AAP82930,AAI40826,AAI41813,ACG60651,Q969F8,CAH60299,CAH68808,BAB55446,AAK83235,NP_115940,EAW69583 Hs.208229 AXOR12|GPR54|HOT7T175 G protein-coupled receptor 54|G-protein coupled receptor 54|G-protein coupled receptor OT7T175|g protein-coupled receptor 54|hypogonadotropin-1|kiSS-1 receptor|kiSS-1R|kisspeptins receptor|metastin receptor protein-coding 731382 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2292419,2292425,2292422,2302173,2292423,2292424,2302172,2302175,2302174,2302176,2292414,2292426,2292421,2292170,2292181,1600050,1600047,1580863,1600045,1600046,2292430 19770581,20119835,20425418,20431920,17662946,19167335,9438854,9990072,18029348,14625290,19652585,19648886,19644024,19620409,19603346,19536093,19501868,19496203,19480722,19461405,19421145,19411681,19390946,19375649,19351817,19343301,19326424,19320733,19309322,19307738,19302534,19291337,19265199,19248967,19221036,19181784,19176456,19176031,19158841,19158834,19155737,19126397,19088079,19049823,19047099,19028276,19018266,19010635,19001805,18983466,18980976,18977345,18955458,18955451,18931652,18840707,18831895,18795925,18766971,18766958,18755984,18754326,18729075,18724245,18724244,18715619,18697750,18648854,18633766,18632627,18622894,18618605,18593464,18592792,18588518,18568298,18542042,18521824,18500266,18488000,18486988,18443272,18436868,18424727,18416137,18413817,18404201,18390729,18385756,18372228,18360281,18350628,18337018,18314612,18314611,18312355,18294292,18270328,17545544,17532173,17526803,17525721,17519280,17495964,17487541,17487504,17448763,17438095,17372901,17367465,17337216,17298867,17289809,17193822,17124503,17119051,17072721,17060458,17024483,17018686,16928224,16905672,16842246,16840725,16830365,16786129,16785193,16784237,16780420,16773696,16760463,16741248,16697720,16685437,16623778,16597595,16551858,16533529,16479070,16460801,16445822,16426921,16373964,16357008,16352739,16335952,16320053,16271084,16242000,16235251,16220461,16188233,16175573,16143141,16135486,16082245,16076867,16029447,16015387,15991300,15897742,15869870,15795882,15791570,15791568,15780567,15725473,15688149,15685537,15671569,15623596,15621809,15618926,15618474,15617841,15583854,15512818,15507676,15507672,15502806,15471556,15370139,15363457,15339674,15337769,15326474,15315962,15308671,15234225,15224284,15217946,15194144,15167915,15161681,15154005,15146197,15145934,15112348,15073598,15073597,15062876,15044924,15033665,15018431,15007095,14994370,14981116,14871970,14745431,14724587,14707129,14695343,14677065,14669790,14657715,14654075,14647465,14634801,12918066,12878163,12824925,12824871,12796027,12759497,12754375,12711118,12666065,12646235,12598308,12592353,12584564,12542597,12522257,12511554,12485499,12477932,12457234,12444928,12429808,12393703,12379771,12374739,12204004,12172985,12134042,12111653,12091362,12072198,12063025,12041664,12036870,12008077,11919394,11861291,11825908,11809791,11805142,11786393,11642722,11517291,11505412,11388751,11380399,11124255,11074500,11071635,11018522,10872802,10679268,10582339,10477727,10397721,10377264,10362788,10358045,10022833,9872323,9847074,9827716,9799234,9788619,9699740,9697690,9657776,9528781,9450866,9355737,9341198,9092574,9038210,9029028,9027509,8950973,8751459,8680409,8647802,8611693,8589724,8527164,7693453,7691885,7687267,7684496,7680037,7539802,7537096,7536744,7527392,7526158,7523489,7523381,7520444,7514077,7514064,7509796,7507133,7506248,7505199,7479840,3360448,2474787,2448137,1720553,1717985,1715789,1712644,1381360,1377810,1376329,1375232,1373482,1371879,1370874,1279971,1279499,9108086,12177062,10353443,8757502,20030644,20594584,20606738,20861712,18521081,20384797,20927104,20064158,20716168,17848411,19280218,20147452,20413811,20177846,20591500,20824047,21072993,19152194,20596251,20651373,20651400,18265649,18265633,18259950,18246046,18245707,18239612,18214972,18212542,18192885,18187489,18183595,18165278,18084259,18066592,18042065,18006222,17993265,17989000,17965221,17960171,17949810,17943970,17928050,17909012,17904548,17894554,17875504,17855052,17850794,17827398,17767956,17726262,17720713,17710669,17691909,17681176,17673922,17658483,17645464,17632543,17623951,17595334,17573850,17551405,17546049,20553795,20685234,20806443,16365291,20861915,21058037,17706113,18492696,18636362,19276970,19283847,19333543,19416921,19430803,19435714,19458628,19540337,19574886,19585492,19592542,19614767,19617878,19624312,19636022,19652583,19660459,19662984,19675092,19675587,19694830,19696981,19718013,19723893,19730683,19734423,19737953,19737976,19755855,19779861,19787330,19789626,19802003,19811659,19847891,19850739,19861442,19862010,19862822,19865100,19893034,19900103,19901887,19912360,19915299,19915372,19943934,19956635,19961019,20001342,20023271,20028869,20039765,20056794,20088873,20099418,20100931,20112369,20123583,20133985,20137753,20146711,20197394,20231303,20305341,20378615,20470368,20477813,20442311,19298525,20566478,20601678,20651610,20140688,20633291,20686603,20425130,20566360,20652953,20688482,21115932,20471335,20484085,20838788,20847314 2292419,2292425,2292422,2302173,2292423,2292424,2302172,2302175,2302174,2302176,2292414,2292426,2292421,2292170,2292181,1600050,1600047,1600045,1600046,2292430 3815 NM_000222,NM_001093772,NG_007456,AC006552,AC092545,CH471057,CS117948,L04143,S67773,S68472,U63834,X65959,X69301,AJ438313,AK304031,BC071593,CN414753,DC376760,EU826594,X06182,CS479297,CS542496,GM868983,GU983671,HM015525,HM015526,HM030712,HM030713 NP_000213,NP_001087241,EAX05460,EAX05461,CAJ15130,AAB29529,AAB29301,AAC50968,AAC50969,CAA46771,CAA46772,CAA49159,CAD27356,BAG64945,AAH71593,ACF47630,CAA29548,P10721,Q14708,Q14709,Q6IQ28,Q8TCG9,CAM35390,CAM91185,CAT16960,ADF36702,ADF50068,ADF50069,ADF50070,ADF50071 Hs.479754 C-Kit|CD117|PBT|SCFR mast/stem cell growth factor receptor|proto-oncogene c-Kit|proto-oncogene tyrosine-protein kinase Kit|soluble KIT variant 1|tyrosine-protein kinase Kit|v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein protein-coding 737118 KITLG KIT ligand This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1299516,1580863 20596251,20543847,10884405,9722506,2208279,10049787,19492092,19483682,19483681,19480722,19416273,19375057,19285034,19197368,19196101,19074504,19001805,18834862,18830255,18684968,18602222,18499891,18372228,18339685,18239612,18166170,18083106,18042633,18026739,17952075,17855052,17687495,17556598,17410437,17289809,17257055,17191042,17175329,17115933,16905672,16780589,16709604,16647379,16616334,16479403,16213778,16181409,16015044,15866728,15781331,15728521,15576295,15526978,15526160,15504551,15504546,15489334,15475566,15474101,15378028,15355893,15337769,15308671,15217825,20384797,20396801,17848411,17662946,19342032,19481739,19570824,19675587,19897599,19912360,20028869,20117079,20237496,20353940,17207965,20131076,15140230,14985355,14702039,14691917,14662725,14654075,14628073,12829027,12753403,12666065,12637332,12556557,12481031,12477932,12445210,12429808,12421569,12393703,12393403,12297464,12123753,12062186,12002675,11999217,11920266,11905054,11159541,11124255,15145934,10901444,10880433,10320642,10224464,9889281,9590652,9371281,9269751,9239726,9113989,8626683,7680037,7545103,7529021,7528592,1724381,1707188,1427906,1383693,1381905,1379846,1378327,1375232,19913121,20337985,20628086 1299516 4254 BX474960,CR613468,CR749222,M59964,S42571,DC320486,NM_003994,NM_000899,NG_012098,AC024941,CH471054,AF119835,AF400436,AF400437,AK025245,AK055903,AK290319,AK293002,BC069733,BC069783,BC069797,BC074725,BC126166,BC143899 CAH18078,AAA85450,AAB22846,P21583,AAI43900,ADQ31957,NP_003985,NP_000890,EAW97416,EAW97417,EAW97418,EAW97419,AAD22048,AAK92485,AAK92486,BAF83008,BAF85691,AAH69733,AAH69783,AAH69797,AAH74725,AAI26167 Hs.1048 DKFZp686F2250|FPH2|KL-1|Kitl|MGF|SCF|SF|SHEP7 c-Kit ligand|familial progressive hyperpigmentation 2|kit ligand|mast cell growth factor|steel factor|stem cell factor protein-coding 732783 KL klotho This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq] 1580863,1581727,1581721,1581730,1581732,1581723,1581599 21093413,20482749,9363890,11792841,17086194,12110410,9464267,19539617,19527514,19453261,19421891,19419323,19349416,19329831,19246844,19121771,19119257,19077115,19019915,19019335,18974842,18818748,18762812,18756295,18682507,18678710,18660672,18591743,18547997,18465812,18308935,18034366,17711860,17710231,17624411,17408468,17339340,17332731,17270470,17205327,17202338,17014852,16979405,16973281,16957409,16955217,16753056,16579981,16325773,16262891,16151675,15784727,15763166,15677572,15135068,15057823,14702039,12771308,12669274,12369777,11162628,11137391,11043382,10631108,19913121,20628086,20654748,10579907,10629055,14534538,18829467,19230844,19480830,19680556,19690404,19756714,19802015,19878569,19890272,19913601,20005218,20068287,20345435,20379614,20394945,20466664,20140262,20685863,20800603 1581727,1581721,1581730,1581732,1581723,1581599 9365 NM_004795,NG_011485,AB009667,AL161898,CH471075,Z84483,Z92540,AA890465,AB005142,AK097349,CB988086,FB571443 NP_004786,BAA24940,BAA24941,CAH71888,EAX08525,EAX08526,CAC94773,CAC94767,BAA23382,BAG53456,Q9UEF7,CAR95139 Hs.524953 klotho 1643403 BMD8_H protein-coding 1604985 KLB klotho beta 19117008,20800603,17627937,19059246,18829467,18259951,17711860,16358222,15489334,12477932,20717167,20657013 152831 NM_175737,AC021148,AC023135,CH471069,AB079373,AK302436,BC033021,BC104871,BC113653,BC143575,BJ993426 NP_783864,EAW92925,BAC56857,BAG63737,AAH33021,AAI04872,AAI13654,AAI43576,Q49AQ7,Q86Z14 Hs.90756 BKL|MGC142213 beta-klotho|betaKlotho|klotho beta like|klotho beta-like protein protein-coding 1352040 KLC1 kinesin light chain 1 Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq] 1580863 11106729,16169070,17353931,15778465,11238452,19046961,17999208,17977659,17917076,17825299,17653041,17611642,17081983,16964243,16344560,16084724,15489334,15364413,15342556,12839500,12800201,12477932,12475239,10806115,9450959,8945637,8786116,8274221,10491391,9624122,11144355,19913121,20601096,20628086,11907332,12594206,12893827,15324660,15905402,15987681,17332754,19717019,19773279,19911314 3831 NM_005552,NM_001130107,NG_012307,AF267530,AL049840,AL139300,CH471061,X69658,AB451299,AB451431,AF527736,AK294508,AY180163,AY180164,AY180165,AY180166,AY180167,AY180168,AY180169,AY180170,AY244715,BC008881,BK000678,BK000679,BK000680,NM_182923,BK000681,BK000682,BK000683,BK000684,BK001163,BK001164,BK001165,BK001166,BK001167,BK001168,BK001169,BK001170,BK001171,BK001172,BM988840,BP274336,BP396130,BQ002171,CA433051,CB050619,CR607419,CR608303,CR613465,CR618577,CR619184,DA501532,L04733,AL133587 NP_891553,NP_005543,NP_001123579,AAF72543,EAW81832,EAW81833,EAW81834,EAW81835,CAA49349,BAG70113,BAG70245,AAP85635,BAG57724,AAO62548,AAO62549,AAO62550,AAO62551,AAO62552,AAO62553,AAO62554,AAO62555,AAO64641,AAH08881,DAA01262,DAA01263,DAA01264,DAA01265,DAA01266,DAA01267,DAA01268,DAA01289,DAA01290,DAA01291,DAA01292,DAA01293,DAA01294,DAA01295,DAA01296,DAA01297,DAA01298,AAA16576,Q07866,Q13865,Q7RTP8,Q7RTQ0,Q7RTQ1,Q7RTQ2,Q7RTQ3,Q7RTQ4,Q7RTQ7,Q7RTQ8,Q7RTQ9,Q7Z5D5,ABM84182,ABM87584 Hs.20107,Hs.657678 KLC|KNS2|KNS2A|MGC15245 KLC 1|kinesin 2 60/70kDa|kinesin light chain 1|medulloblastoma antigen MU-MB-2.50 protein-coding 1603973 KLC2 kinesin light chain 2 Kinesin is a molecular motor that generates ATP-dependent movement of vesicles and organelles along microtubules. Kinesin consists of 2 light chains, such as KLC2, and 2 heavy chains (see KIF5B; MIM 602809) in a 1:1 stoichiometric ratio (Rahman et al., 1998 [PubMed 9624122]).[supplied by OMIM] 17353931,11256614,17081983,16964243,16713569,16381901,16344560,15489336,15489334,15342556,15324660,15302935,15146197,14702039,11230166,11106729,11076863,9624122,15778465,15297625,12477932,10491391,14985359,16169070,17332754,19773350 64837 NM_022822,NM_001134774,NM_001134775,NM_001134776,AP000759,AP001107,CH471076,AK022449,AK022907,AK126489,AK315725,AL136864,BC034373,BE882786,BP214296,CN310361,CR604733,CR625790,DA198727,DA291004,DA773222,DB136312,AK094593 NP_073733,NP_001128246,NP_001128247,NP_001128248,EAW74507,BAB14039,BAB14302,BAG52895,BAG38081,CAB66798,AAH34373,Q9H0B6,CAL38468,ABM82064,ABM85243 Hs.280792 FLJ12387 KLC 2|OTTHUMP00000165218|OTTHUMP00000165219|OTTHUMP00000165220|kinesin light chain 2 protein-coding 1604744 KLC3 kinesin light chain 3 This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq] 15489334,15464570,14702039,12594206,12477932,11319135,9624122,8786141,11969417,17353931,10491391,12427867,15324660,19913121,20628086 147700 NM_177417,CH471126,L47234,AK092481,BC025318,BC062998,BC073841,BC126418,BC133037,BF569806 NP_803136,EAW57338,EAW57339,EAW57340,AAL48324,BAC03901,AAH62998,AAH73841,AAI26419,AAI33038,Q6P597,ADR83029 Hs.298079 KLC2|KLC2L|KLCt|KNS2B KLC2-like|kinesin light chain 2|kinesin light chain 2-like|kinesin light chain 3 protein-coding 1315239 KLC4 kinesin light chain 4 20818331,17353931,16964243,16713569,15489334,15324660,14702039,14574404,12477932,8889548,17643375 89953 NM_201521,NM_138343,NM_201523,NM_201522,AL355385,CH471081,AK055293,AK056393,AK094102,AK127018,AK127894,AK297433,AL162078,BC012357,BC080637,BC103727,BQ688778,BX640717,CA450484 NP_958929,NP_612352,NP_958931,NP_958930,CAI13781,EAX04146,EAX04147,EAX04148,EAX04149,BAG51496,BAG51695,BAG52815,BAC86788,BAC87179,BAG59861,CAB82411,AAH12357,AAH80637,AAI03728,CAE45836,Q96EG6,Q9NSK0,ABM83157,ABM86358,ACE87281,ACE86600 Hs.655123 KNSL8|MGC111777|bA387M24.3 KLC 4|OTTHUMP00000016420|OTTHUMP00000217001|kinesin light chain 4|kinesin-like 8|kinesin-like protein 8 protein-coding 1319723 KLF1 Kruppel-like factor 1 (erythroid) 1580863 18487511,20642331,20686118,8924208,9778250,19251649,19220418,19097174,18523154,14976188,12556498,12477932,12072445,11844803,11259590,11018012,9722526,9119377,7753194,18329016,18195733,16858401,16184297,15937668,15057824,20676097,20676099,20379614,21055716 10661 NM_006563,AC020934,AD000092,CH471106,U37106,BC033580,BC040000,U65404,FJ200444,NG_013087 NP_006554,AAB51173,EAW84323,AAC50562,AAH33580,AAC51108,Q13351,ACM18112 Hs.37860 EKLF|HBFQTL6|INLU Krueppel-like factor 1|erythroid Kruppel-like factor|erythroid krueppel-like transcription factor|erythroid-specific transcription factor EKLF|monoclonal antibody A3D8 protein-coding 1348365 KLF10 Kruppel-like factor 10 10976766,9748269,10816551,8532536,19453261,19240061,18798273,18483178,18359287,17659279,17377371,16964243,15489334,15218362,15087465,12804117,12477932,12173049,12072443,12065093,9721211,9443078,9153278,8584037,11438660,17207965,20863814,20691807,20628624,17931948,20087894,20201926 7071 NM_005655,NM_001032282,AF050110,AP002851,CH471060,AK312894,BC011538,BC095399,BI560615,BQ575313,BT006634,CR598827,S81439,U21847 NP_005646,NP_001027453,AAC34293,AAC34294,EAW91850,BAG35741,AAH11538,AAH95399,AAP35280,AAB36088,AAC50340,O75411,Q13118,ACE87526,ACE86839,ADQ32775 Hs.435001 EGRA|TIEG|TIEG1 EGR-alpha|Krueppel-like factor 10|TGFB inducible early growth response|TGFB-inducible early growth response protein 1|TIEG-1|transforming growth factor-beta-inducible early growth response protein 1 protein-coding 1605424 KLF11 Kruppel-like factor 11 2311540,2311539 9748269,19124506,19122346,18593768,18505768,18199129,17479246,17252542,17130512,17114344,16713569,15774581,15531587,15489334,15300592,15024015,14702039,12477932,12006497,11827452,11438660,11087666,10207080,20709022,17308981,19843526,20002157,20124487,20154088 2311540,2311539 8462 NM_003597,AC104794,CH471053,CQ855663,CQ868162,AF028008,AF272830,AI183650,AI755210,AJ275989,AK002186,AK289816,AK302880,AK315345,AK316439,BC063286,BC069383,BC074922,BM548792,BQ881155,CB990375,CR591795,BG701929,NG_017199,NM_001177716,NM_001177718 NP_003588,AAX93098,EAX00972,CAH23425,AAC61880,AAF75793,CAC06699,BAF82505,BAG64059,BAG37743,BAH14810,AAH63286,AAH69383,AAH74922,O14901,Q53QU8,CAH33945,NP_001171187,NP_001171189 Hs.12229,Hs.694968 FKLF|FKLF1|MODY7|TIEG2|Tieg3 Krueppel-like factor 11|TGFB-inducible early growth response protein 2|TIEG-2|transforming growth factor-beta-inducible early growth response protein 2 protein-coding 1319416 KLF12 Kruppel-like factor 12 Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19588488,19907058,20049410,20101243,20379614,10704285,16615998,19240061,18668548,16344560,16189514,15937668,15489334,15057823,14702039,12477932,11935316,11406275,11373277,11042152,9858544,21076409 11278 AK291397,AF312872,AL138713,AL139036,AL158054,AL159972,AL160032,AL356319,NM_007249,CH471093,CQ834616,AF113122,AF161471,AF330041,AI949908,AJ243274,AK094419,AK096503,AK126412,BC019680,BF515580,DB125574 NP_009180,AAK12082,CAI15634,CAH71998,CAH70670,CAH74171,EAW80528,EAW80529,CAH05523,AAF14863,AAF29086,AAL37478,CAB46982,BAF84086,AAH19680,Q8WWI3,Q9Y4X4,ABM82699,ABM85883 Hs.725970,Hs.373857 AP-2rep|AP2REP|HSPC122 AP-2 repressor|AP-2rep transcription factor|KLF12 zinc finger transcriptional repressor|Krueppel-like factor 12|OTTHUMP00000018503|transcriptional repressor AP-2rep protein-coding 1344641 KLF13 Kruppel-like factor 13 KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM] 1580863 20410205,20539070,10023774,17513757,18056793,17074812,16023392,15937668,15716005,15489334,12477932,12093895,12050170,12036432,11748222,11477107,11087666,10828046,10415854,11438660,20518834 51621 NM_015995,AC012236,AC104759,CH471216,AF132599,AF150628,AL390127,BC010438,BC012741,BC012782,BC013946,BC035503,BC064552,BF797908,BM477172 NP_057079,EAW61265,AAD26864,AAD34020,AAH10438,AAH12741,AAH13946,Q9Y2Y9 Hs.525752 BTEB3|FKLF2|NSLP1|RFLAT-1|RFLAT1 BTE-binding protein 3|Krueppel-like factor 13|RANTES factor of late activated T lymphocytes-1|RANTES factor of late activated T-lymphocytes 1|Sp1 like zinc finger transcription factor|basic transcription element binding protein 3|basic transcription element-binding protein 3|novel Sp1-like zinc finger transcription factor 1|transcription factor BTEB3|transcription factor NSLP1 protein-coding 1343776 KLF14 Kruppel-like factor 14 1580863 19088080,17480121,15820306,12690205,19578363,19936222,20581827,20889853 136259 NM_138693,AC009274,CH236950,CH471070,DQ534756,AF490374,DQ534757,AA455939,NG_016152 NP_619638,EAL24083,EAW83773,ABF82392,AAM08349,ABF82393,Q8TD94,AAI60035 Hs.125240 BTEB5 BTE-binding protein 5|Krueppel-like factor 14|basic transcription element-binding protein 5|transcription factor BTEB5 protein-coding 737261 KLF15 Kruppel-like factor 15 1580863 20375365,20709022,17688680,17438289,15963234,15937668,15489334,12477932,11473619,10982849,18586263,19366843,20141633 28999 NM_014079,AC063919,CH471052,AB029254,BC036733,BX649049 NP_054798,EAW79367,BAA88561,AAH36733,Q9UIH9,ABM81837,ABM84988 Hs.272215 DKFZp779M1320|KKLF Krueppel-like factor 15|kidney-enriched Kruppel-like factor|kidney-enriched krueppel-like factor protein-coding 1314308 KLF16 Kruppel-like factor 16 1580863 17688680,17480121,15937668,12036432,11438660,11390978 83855 NM_031918,AC012615,CH471139,AF327440,AK025941,BE243730,BQ447922,BU594659,CR985546,CV809534 NP_114124,EAW69448,EAW69449,AAK15698,Q9BXK1,AAI48408,AAI48794 Hs.136280 BTEB4|DRRF|NSLP2 BTE-binding protein 4|Krueppel-like factor 16|basic transcription element binding protein 4|basic transcription element-binding protein 4|dopamine receptor regulating factor|novel Sp1-like zinc finger transcription factor 2|transcription factor BTEB4|transcription factor NSLP2 protein-coding 1344784 KLF17 Kruppel-like factor 17 19951400,19801974,16710414,16460907,16344560,15489334,14702039,12477932,12351194 128209 HC044657,NM_173484,AL356653,AL359839,CH471059,AK097479,AK308458,BC035408,BC049844,DB046781 CBH30658,NP_775755,CAI15911,EAX07052,EAX07053,BAC05070,AAH49844,Q5JT82 Hs.567674 FLJ40160|RP4-675G8.1|ZNF393|Zfp393 Krueppel-like factor 17|novel zinc-finger protein|zinc finger protein 393 protein-coding 1351701 KLF2 Kruppel-like factor 2 (lung) 1580863 19047056,18814951,18467642,18362151,18218994,18192240,17927807,17688680,17244683,16988269,7565748,20693579,20651277,15003522,20947822,16617118,16571724,16542423,16466697,16455954,16341264,16116194,16043642,16023392,15980434,15947087,15937668,15878865,15834135,15735666,15718498,15607822,15136591,12477932,12426306,12176889,11750135,11375995,10458913,10217429,9373149,8125298,19491109,19495417,19671192,19696221,19786564,19957349,19968965,20032497,20042720,20525885 10365 NM_016270,AC020917,AF123344,CH471106,AF134053,AF205849,AK225820,BC035342,BC071983,BQ581981,CA950627,HI179182,HI574216 NP_057354,AAD25076,EAW84541,AAD55891,AAF13295,AAH35342,AAH71983,Q8IUN4,Q9Y5W3,CBX47597,CBX53899 Hs.726356 LKLF Krueppel-like factor 2|Kruppel-like factor LKLF|lung Kruppel-like zinc finger transcription factor|lung krueppel-like factor protein-coding 1343244 KLF3 Kruppel-like factor 3 (basic) 1580863 10582345,18391014,17081983,16344560,15937668,15684403,15489334,12812068,12477932,9724649,8889548,19913121,20628086,17207965,12556451,20379614 51274 NM_016531,AC021860,CH471069,AB024523,AF285837,AK313459,BC030662,BC051687,BU689914,DB246277 NP_057615,EAW92895,EAW92896,BAA92271,AAK27329,BAG36246,AAH30662,AAH51687,P57682,ADQ31936 Hs.298658 BKLF|MGC48279 CACCC-box-binding protein BKLF|Krueppel-like factor 3|TEF-2|basic Kruppel-like factor|basic krueppel-like factor|basic kruppel like factor protein-coding 1342656 KLF4 Kruppel-like factor 4 (gut) 1580863 9422764,8940147,8702718,18029348,19549847,19409607,19361279,19327128,19074836,18977346,18390749,18376139,18264726,18157115,18056793,17932114,17908689,17762869,17688680,17671182,17614846,17508399,17339326,17135299,17017123,17016435,16632465,16507986,16372018,15937668,15806166,15805274,15740636,15674344,15561714,15489334,15102675,15051827,15031282,14724568,14702039,14670968,14627709,12919939,12901861,12853980,12776194,12581631,12477932,12439907,12427745,12297499,12087155,11521200,10749849,10666450,10556311,10431239,10392904,9651398,9443972,9428642,9218496,8889548,18655026,10802067,12034813,20519630,19486889,20718868,20727893,21159640,19197145,20385121,20551324,20629177,18768922,19458492,19495417,19503094,19505997,19522013,19541842,19544095,19696409,19717984,19737957,19763260,19779097,19816951,19858207,19968965,20043075,20071344,20072650,20075075,20356845 9314 DQ658241,AF022184,AF105036,AK095134,AK095894,AK313489,BC029923,BC030811,BU739190,CR599303,DN995850,U70663,NM_004235,AL359552,AL360218,CH471105 EAW59019,EAW59020,EAW59021,ABG25917,AAC03462,AAD42165,BAG52991,BAG36271,AAH29923,AAH30811,AAB48399,O43474,Q5T3J6,ABM82719,ABM85901,NP_004226,CAI12256,CAI12254,CAX14961,CAX14962 Hs.376206 EZF|GKLF Krueppel-like factor 4|endothelial Kruppel-like zinc finger protein|epithelial zinc finger protein EZF|gut-enriched krueppel-like factor protein-coding 1345927 KLF5 Kruppel-like factor 5 (intestinal) This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. Since the protein localizes to the nucleus and binds the epidermal growth factor response element, it is thought to be a transcription factor. [provided by RefSeq] 1581748,1304323,1304288,1581746,1580863,1581749 8479902,19056724,18782761,18774944,18660489,18617520,18226501,18054006,18039846,17688680,17603560,17508399,17430902,20388706,17320083,17178721,16638850,16595680,16500892,16341264,16223724,16102754,16102021,16054042,16023392,15937668,15740636,15735697,15668237,15581624,15489334,15077182,14726538,14612398,14587307,14573617,12901861,12682370,12661032,12576331,12477932,12242654,12113473,12101409,12087155,11152667,11076828,10572182,9973612,9089417,19411256,19419955,19448973,19460858,19569049,19668233,19671674,19684017,20086047,20101243,20484041,20639455 1581748,1304323,1304288,1581746,1581749 688 NM_001730,AF184924,AL354720,CH471093,AB030824,AF132818,AF287272,AK131397,AK296900,AK302280,AK304284,BC007695,BC014302,BC042131,BT006641,D14520,EF208215 NP_001721,AAG23126,CAI14871,EAW80524,EAW80525,EAW80526,BAA96461,AAF18307,AAF88068,BAG59458,BAG63623,BAG65143,AAH07695,AAH42131,AAP35287,BAA03393,ABM97548,Q13887,Q5T6X2,Q9HBZ3,ABM92198,ABM84666 Hs.508234 BTEB2|CKLF|IKLF BTE-binding protein 2|GC box binding protein 2|GC-box-binding protein 2|Krueppel-like factor 5|basic transcription element binding protein 2|basic transcription element-binding protein 2|colon krueppel-like factor|colon kruppel-like factor|intestinal-enriched krueppel-like factor|intestinal-enriched kruppel-like factor|transcription factor BTEB2 protein-coding 1349381 KLF6 Kruppel-like factor 6 This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq] 20660366,15917248,15824733,15735005,15489334,15486921,15378003,15342556,15247715,15164054,15131018,15067324,15064720,15057748,12794452,12740910,12651626,12651597,12590140,12508640,12477932,12433697,11752579,10802067,9685731,9503030,8889548,16169070,15172998,21056892,18822210,9083102,9689109,9000136,19435908,19101139,19097929,19020536,18755691,18753303,18719336,18691883,18596922,18521079,18515091,18471523,18250346,18190240,18174288,18053161,17893646,17663506,17621627,17514651,17347668,17347589,17223258,17143513,17125911,17113081,17071613,16988269,16972326,16872311,16856969,16778100,16702959,16598737,16500425,16431954,16189514,16054710,16044160,15937668,16385451,19328586,19333010,19808645,20014424,20116377,20126619,20237496,20453000,17207965,20545576 1316 NG_012277,NM_001160124,NM_001160125,NR_027653,AF284036,AL450322,AL513303,CH471072,AB017493,AF001461,AI355637,AK293259,AK316596,BC000311,BC004301,BC015987,NM_001300,BM544849,BM695496,BP357332,BQ017028,BT006778,BX537374,CD742988,CR603131,CR975091,CR994352,U44975,U51869,FJ619623,HI573934,HI573936 NP_001291,NP_001153596,NP_001153597,AAM73548,CAH71010,CAH74049,CAH74050,EAW86476,EAW86477,EAW86478,EAW86479,BAA33050,AAC39929,BAG56791,BAG38183,AAH00311,AAP35424,CAD97616,AAC23699,AAB94792,AAB94793,O43838,O43839,Q7Z3W8,Q99612,ABM81678,ACU45419,ADQ31593,CBX47456,CBX47457 Hs.4055,Hs.709396 BCD1|CBA1|COPEB|CPBP|DKFZp686N0199|GBF|PAC1|ST12|ZF9 B-cell-derived protein 1|GC-rich binding factor|GC-rich sites-binding factor GBF|Krueppel-like factor 6|Kruppel-like zinc finger protein Zf9|core promoter element binding protein|core promoter element-binding protein|proto-oncogene BCD1|protooncogene B-cell derived 1|suppression of tumorigenicity 12 (prostate)|suppressor of tumorigenicity 12 protein|transcription factor Zf9 protein-coding 1314410 KLF7 Kruppel-like factor 7 (ubiquitous) 1580863 9774444,19147600,17164435,16339272,15937668,14729953,14702039,14644156,12477932 8609 NM_003709,AC007879,AC008062,CH471063,AB015132,AK027371,AK297312,AK314439,BC012919,BX537890,CR542112 NP_003700,AAY15081,AAX88867,EAW70400,EAW70401,EAW70402,EAW70403,BAA33521,BAG51308,BAH12543,BAG37050,AAH12919,CAD97885,CAG46909,O75840,Q4ZG79,Q53TP3,Q7Z3H8,Q96E51 Hs.471221 UKLF Krueppel-like factor 7|OTTHUMP00000206511|OTTHUMP00000206512|OTTHUMP00000206517|ubiquitous Kruppel-like transcription factor|ubiquitous krueppel-like factor protein-coding 2303693 KLF7P kruppel-like factor 7 pseudogene 100128036 NG_009752,AC061708 KLF7P pseudo 1348117 KLF8 Kruppel-like factor 8 This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 20182889,18353772,17671186,17224162,16832343,16023392,15937668,15772651,15489334,12820964,12477932,11836360,10756197,12556451 11279 NM_007250,NG_011949,NM_001159296,AL050309,BX322609,CH471154,AK296156,BC031355,BC063276,BC105130,BC112109,BX098438,BX641066,AB209004 NP_009181,NP_001152768,CAI42343,CAI41397,EAW93230,EAW93231,EAW93232,BAG58895,AAH31355,AAI05131,AAI12110,CAE46033,O95600,Q05BZ3,BAD92241,ABZ92303 Hs.646614 BKLF3|DKFZp686O08126|MGC138314|ZNF741 Krueppel-like factor 8|basic krueppel-like factor 3|basic kruppel-like factor 3|zinc finger protein 741 protein-coding 1350312 KLF9 Kruppel-like factor 9 The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq] 70784 1356762,8051167,19375645,18783612,18477211,18426912,18224337,18056793,17717078,16384861,12672823,12477932,8291025,8269949,8257632,7775404,11438660,15489334,15164053,20410205,20463357 70784 687 AL162390,CH471089,CQ834782,AB451404,AI458659,AI693223,AK313631,BC069431,BC074879,BC074880,BE221978,D31716,S72504,NM_001206 CAB99349,EAW62503,EAW62504,CAH05606,BAG70218,BAG36390,AAH69431,AAH74879,AAH74880,BAA06524,AAD14110,Q13886,ABZ92418,NP_001197 Hs.150557,Hs.602267 BTEB|BTEB1 BTE-binding protein 1|GC-box-binding protein 1|Krueppel-like factor 9|basic transcription element binding protein 1|basic transcription element-binding protein 1|transcription factor BTEB1 protein-coding 1317857 KLHDC1 kelch domain containing 1 20549515,16964437,15489334,14702039,12477932,18029348 122773 NM_172193,AL591767,CH471078,AF111806,AK127202,AL833437,BC031270,BC101595,BC101597,BC143596,BC143597,CK822678 NP_751943,EAW65752,EAW65753,AAL39008,BAG54451,AAI01596,AAI01598,Q8N7A1 Hs.509258 MGC126644|MGC126646|MST025 kelch domain-containing protein 1 protein-coding 1602130 KLHDC10 kelch domain containing 10 12690205,12477932,9039502,20562859 23008 NM_014997,AC087071,CH236950,CH471070,BC009977,BC036464,BC044884,D87454,AF277177 NP_055812,EAL24096,EAW83744,EAW83745,EAW83746,AAH09977,AAH36464,AAH44884,BAA13395,Q6PID8,Q96G43,AAK07537,Q9BZS7 Hs.520710 KIAA0265|slim OTTHUMP00000212347|PNAS-119|kelch domain-containing protein 10|scruin like at the midline homolog protein-coding 1315157 KLHDC2 kelch domain containing 2 17353931,16964437,15489334,14702039,12477932,12097419,11384994,16169070,15778465 23588 NM_014315,AL591767,CH471078,AF113131,AF244137,AK001771,AK056298,BC002335,BC024192,BX161429,CD356831,CF994676,CR457205,CR591808,CR592763,CR592955,CR594220,CR594509,CR597789,CR605309,CR609630,CR614613,CR617895,CR618882,CR622573,CR625292 NP_055130,EAW65749,EAW65750,AAD21038,AAF66246,BAA91898,BAG51671,AAH02335,AAH24192,CAD61901,CAG33486,Q9Y2U9,ABM86302,ABW03800 Hs.509264 HCLP-1|LCP hepatocellular carcinoma-associated antigen 33|host cell factor homolog LCP|host cell factor-like protein 1|kelch domain-containing protein 2 protein-coding 1316101 KLHDC3 kelch domain containing 3 The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2 (RAG2), a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to express specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, which suggests that this gene may be involved in meiotic recombination. 17207965,12606021,12482870,15489334,14702039,14574404,12755172,12477932,12444059,17353931 116138 NM_057161,AL136304,CH471081,AB055925,AK097719,AK290384,AK308917,BC000295,BC001789,BC001793,BC007296,BC009460,BC012987,BC021546,BC041793,BC045612,CR593356,CR598438,CR599856,CR600425,CR602982,CR603335,CR605914,CR608943,CR611186,CR612447,CR614507,CR620802,CR622022,AK302336 NP_476502,CAI19796,EAX04136,EAX04137,EAX04138,EAX04139,EAX04140,EAX04141,EAX04142,BAB63257,BAC05149,BAF83073,AAH00295,ADQ32723,AAH01789,AAH01793,AAH07296,AAH09460,AAH21546,AAH41793,AAH45612,Q8IVW5,Q8N7S8,Q96GH7,Q9BQ90,BAG63666 Hs.412468 PEAS|RP1-20C7.3|dJ20C7.3|hPEAS OTTHUMP00000207001|kelch domain-containing protein 3|protein Peas|testis intracellular mediator protein protein-coding 1322601 KLHDC4 kelch domain containing 4 17081983,15489334,15302935,14702039,12477932,15342556 54758 AC010536,CH471114,AK023986,AK057211,AK097097,AK098630,AL133107,BC001044,BC011680,BC022969,CR600527,NM_017566,BP215584,NM_001184854,NM_001184856 EAW95376,EAW95377,EAW95378,EAW95379,EAW95380,EAW95381,EAW95382,EAW95383,BAB14756,BAG53422,CAB61413,AAH01044,AAH11680,AAH22969,Q8TBB5,Q9H863,Q9UF94,NP_060036,NP_001171783,NP_001171785 Hs.720662 DKFZp434G0522|FLJ00104 kelch domain-containing protein 4 protein-coding 1348247 KLHDC5 kelch domain containing 5 19261606,16713569,16541075,16189514,15489334,14702039,12477932,10718198,19615732 57542 CR621766,CR623164,T83155,NM_020782,AC009511,CH471094,AA687307,AB037761,AK002197,AK095405,AL118635,AL702640,BC028742,BC108669,BC137116,BC137117,BQ218827,BX497104,CA771366,CD521625,CR593861,CR602758 Q9P2K6,ABZ92363,NP_065833,EAW96570,EAW96571,BAA92578,BAG53048,AAH28742,AAI08670,AAI37117,AAI37118 Hs.505104 Ctb9|KIAA1340|MGC131714 kelch domain-containing protein 5 protein-coding 1603549 KLHDC6 kelch domain containing 6 16381901,15489336,12477932,11076863,20379614 166348 NM_207335,AC011311,CH471052,AK128176,AK307108,BC041365,BX537865 NP_997218,EAW79328,BAC87309,AAH41365,CAD97868,Q3ZCT8,Q7Z665,CAL38186,CAL38334 Hs.132087 DKFZp779E2271|FLJ46299|KLHDC6 OTTHUMP00000197688|OTTHUMP00000197689|kelch domain containing 6|kelch domain-containing protein 6|kelch repeat and BTB domain-containing protein 12 protein-coding 1606164 KLHDC7A kelch domain containing 7A 14702039,12477932,20379614 127707 NM_152375,AL591896,CH471134,AK096072,BC101498,BC101500,BC151205 NP_689588,EAW94851,BAC04695,AAI01499,AAI01501,AAI51206,Q5VTJ3 Hs.406913,Hs.710799 FLJ38753|RP11-422P22.2 kelch domain-containing protein 7A protein-coding 1602443 KLHDC7B kelch domain containing 7B 15489334,12477932,8889548,20139978 113730 NM_138433,CH471138,BC009980,CN479146 NP_612442,EAW73566,AAH09980,Q96G42 Hs.137007 MGC16635 kelch domain-containing protein 7B protein-coding 1605377 KLHDC8A kelch domain containing 8A 15489334,14702039,12477932,17207965 55220 AK299227,AK096590,BC036076,CR593027,NM_018203,AC098933,AC098936,CH471067,AK001610 BAH12975,BAG53332,AAH36076,Q8IYD2,NP_060673,EAW91550,EAW91551,EAW91552,EAW91553,BAA91787,ADQ31686 Hs.10414 FLJ10748 OTTHUMP00000035322|kelch domain-containing protein 8A protein-coding 1602285 KLHDC8B kelch domain containing 8B 18029348,15498874,15489334,14702039,12477932,20107318,8401585,21102462,19706467 200942 NM_173546,AC135506,CH471055,CS072427,AK002164,AK294160,AY129011,BC013110,BC039083,T08504,NG_027702 NP_775817,EAW64961,EAW64962,EAW64963,CAI93565,BAG57483,AAM98754,AAH13110,AAH39083,Q8IXV7,Q96DZ8 Hs.13781 FLJ11302|MGC35097 kelch domain-containing protein 8B protein-coding 1605002 KLHDC9 kelch domain containing 9 15159402,14702039,12477932,17207965,12107411,15342556 126823 NM_001007255,NM_152366,AL591806,CH471121,AK093268,AY601914,BC022077,BC032482,BC066896,BI549017,BG718418,BP379202,BQ638407,BU173744,BU622692,NR_033385,NR_033386 NP_001007256,NP_689579,CAI15377,EAW52659,EAW52660,EAW52661,EAW52662,EAW52663,EAW52664,BAC04114,AAT09158,AAH22077,AAH32482,AAH66896,Q8NEP7,ADQ32971 Hs.507290 KARCA1|MGC33338|RP11-544M22.9 kelch domain-containing protein 9|kelch/ankyrin repeat-containing cyclin A1-interacting protein protein-coding 1316652 KLHL1 kelch-like 1 (Drosophila) 1580863 10888605,18708037,17289272,16982692,15761153,15057823,14702039,12477932,10819331,20147652,20379614 57626 AF252279,NM_020866,AF393973,AL160391,AL162378,AL353738,AL356384,AL590554,AL596302,CH471093,AB040923,AF252283,AK054609,AK291435,AK295939,BC022460 AAF81716,NP_065917,AAK69769,CAH70258,CAH73330,CAH71287,CAH73834,EAW80503,BAA96014,AAF81719,BAF84124,Q9NR64,ABM81824,ABM84978,BAH12224,AAH22460,Q8TBJ7,Q96RF4 Hs.508201 FLJ30047|KIAA1490|MRP2 Mayven-related protein 2|kelch-like protein 1 protein-coding 1344199 KLHL10 kelch-like 10 (Drosophila) 17047026,15489334,15342556,15136734,14702039,12477932,20218307 317719 NM_152467,AC091172,CH471152,AK057224,AK301797,AK302141,AY495339,BC067753,BP371285,HC007064 NP_689680,EAW60774,BAB71387,BAG63249,BAG63514,AAS91792,Q6JEL2,AAI60168,CBH19337 Hs.127510 FLJ32662 kelch-like protein 10 protein-coding 1315423 KLHL11 kelch-like 11 (Drosophila) 1580863 15489334,14702039,12477932 55175 AC091172,CH471152,AK001434,AK301952,BC034470,NM_018143 NP_060613,EAW60775,EAW60776,BAA91689,BAG63367,AAH34470,Q9NVR0 Hs.592134 FLJ10572 kelch-like protein 11 protein-coding 1346633 KLHL12 kelch-like 12 (Drosophila) 737633 16189514,16713569,18303015,16547521,16108817,15489334,15383316,14702039,12477932,9373149,8125298,19536175 737633 59349 NM_021633,AC096632,CH471067,AF190900,AF306687,AF306689,AK024412,AK027656,AK130662,AK223072,AK301791,BC003183,BC004175 NP_067646,EAW91444,EAW91445,EAW91446,EAW91447,EAW91448,AAG17175,BAB14914,BAB55271,BAD96792,BAH13554,AAH03183,AAH04175,Q53G59,Q9H7R2,ABZ92369 Hs.706793 C3IP1|DKIR|FLJ27152 CUL3-interacting protein 1|kelch-like protein 12|kelch-like protein C3IP1 protein-coding 1342476 KLHL13 kelch-like 13 (Drosophila) 1580863 19084217,15772651,15489334,14702039,12477932,10718198,15342556,16344560,17543862,18075312,19615732 90293 NM_033495,AC006963,AC006968,CH471161,AB037730,AK001124,AK122724,AK125356,AK296324,AK297523,AK299257,AK302713,AK316509,AL591986,BC008729,BC064576,CR614631,AC003012,AL590114,BP380009,DA214831,DA413195,DB074659,DC343916,DC354391,NG_016759,NM_001168299,NM_001168300,NM_001168301,NM_001168302,NM_001168303 NP_277030,AAF03529,EAW89898,EAW89899,EAW89900,BAA92547,BAA91514,BAG53690,BAG54189,BAH12315,BAH12605,BAH12978,BAH13788,BAH14880,CAC41335,AAH08729,AAH64576,Q96HC9,Q9NW71,Q9P2N7,ABZ92079,NP_001161771,NP_001161772,NP_001161773,NP_001161774,NP_001161775 Hs.348262 BKLHD2|FLJ10262|KIAA1309|MGC74791 BTB and kelch domain containing 2|OTTHUMP00000023881|OTTHUMP00000023882|OTTHUMP00000023883|OTTHUMP00000023885|OTTHUMP00000215715|kelch-like protein 13 protein-coding 1321388 KLHL14 kelch-like 14 (Drosophila) 737633,1580863 19535332,20379614,12477932,10718198 737633 57565 NM_020805,AC012123,AC025887,CH471088,AB037805,AK294996,BC021267,CR604173 NP_065856,EAX01294,EAX01295,EAX01296,BAA92622,BAG58061,AAH21267,Q8WU41,Q9P2G3 Hs.446164 kelch-like protein 14|printor protein-coding 1351915 KLHL15 kelch-like 15 (Drosophila) This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq] 1580863 15870933,15489334,14702039,12477932,11214970,14528312,19615732 80311 AA825676,AB051464,AK057298,AL834313,BC015415,BC109058,BC109059,NM_030624,NG_012625,AC079169,AC079376,CH471074 EAW99008,BAB21768,BAB71415,CAD38983,AAH15415,AAI09059,AAI09060,Q96M94,EAW99007,NP_085127 Hs.495854 KIAA1677|MGC126148|MGC126149 kelch-like protein 15 protein-coding 1348319 KLHL17 kelch-like 17 (Drosophila) 625502 16710414,12477932,12063253 625502 339451 AA774437,CA432461,NG_027546,NM_198317,AL645608,CH471183,AK127585,AK293258,AY423763,BC033192,BC045768,BC105742 NP_938073,CAI15569,EAW56300,EAW56301,EAW56302,EAW56303,BAG54529,BAG56790,AAR03710,AAH45768,AAI05743,Q0VGE6,Q6TDP4,Q86XA8,AAI66618 Hs.109212 RP11-54O7.6 actinfilin|kelch-like protein 17 protein-coding 1351976 KLHL18 kelch-like 18 (Drosophila) 737633,1580863 19615732,16381901,15489336,15489334,14702039,12477932,11230166,11076863,9872452 737633 23276 NM_025010,AC104447,CH471055,AB018338,AB062478,AI356423,AK001337,AK023765,AK291477,AK295292,AY714879,BC015962,BC016388,BC032620,BU625052,BX537953 NP_079286,EAW64818,EAW64819,EAW64820,EAW64821,BAA34515,BAB93503,BAB14670,BAF84166,BAG58276,AAU21222,AAH15962,AAH16388,AAH32620,CAD97920,O94889,Q647K1,Q6PJF0,Q9H8E7,CAL38147,CAL38642 Hs.517946 FLJ13703|FLJ61265|KIAA0795 kelch-like protein 18 protein-coding 1314975 KLHL2 kelch-like 2, Mayven (Drosophila) 1580863 10397770,16344560,16189514,16035103,15735724,15489334,12477932,20379614 11275 NM_007246,NM_001161521,NM_001161522,AC012504,AC055120,AC107059,CH471056,AB209727,AF059569,AI814691,AK025289,AK294103,AK294336,AK308940,AK315372,AL541403,BC022503,BC036468,BX647776,DA250099 NP_009177,NP_001154993,NP_001154994,EAX04822,EAX04823,EAX04824,EAX04825,BAD92964,AAC67502,BAG57438,BAG57606,BAG37765,AAH22503,AAH36468,O95198,Q59ET4,ABM84564,ABM86514 Hs.388668 ABP-KELCH|MAV|MAYVEN OTTHUMP00000219997|OTTHUMP00000219998|actin-binding protein Mayven|kelch|kelch-like protein 2 protein-coding 1343100 KLHL20 kelch-like 20 (Drosophila) The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq] 19615732,20389280,10888605,12493773,17395875,16710414,15489334,14702039,14668487,12477932,10603472,16169070,16712791,18029348 27252 AL109921,BX248409,CH471067,AB026190,AJ844466,AK001430,AK300755,AK308048,BC005253,BC063418,CB143306,NM_014458 NP_055273,CAI20377,CAH73000,EAW90952,EAW90953,EAW90954,EAW90955,BAA77027,CAH59617,BAG50912,BAG62422,AAH05253,AAH63418,Q9BS75,Q9Y2M5 Hs.495035 KHLHX|KLEIP|KLHLX|RP3-383J4.3 Kelch motif containing protein|kelch-like ECT2 interacting protein|kelch-like ECT2-interacting protein|kelch-like protein 20|kelch-like protein X protein-coding 1351698 KLHL21 kelch-like 21 (Drosophila) 1580863 16710414,16303743,14702039,12477932,9455484,19995937 9903 AL591866,CH471130,AB007938,AK057164,AK075305,AK090472,AK307564,BC034039,BC064980,BC091648,BC111766,CR593250,NM_014851 Q9UJP4,NP_055666,CAI16080,CAI16082,EAW71558,EAW71559,BAA32314,BAG52104,BAC03453,AAH34039,AAH91648,AAI11767,Q2NKK7 Hs.7764 KIAA0469|MGC99635 kelch-like protein 21 protein-coding 1602999 KLHL22 kelch-like 22 (Drosophila) 15489334,15461802,14702039,12477932,9373149,8125298,16344560,19615732,19995937 84861 NM_032775,AC007731,CH471176,AK024369,AK027266,AK222850,AK290669,BC015923,CR456352,CR593866,CR601347,CR610643,CR610654,CR625075,AK294682,DA381792,NR_033825 NP_116164,EAX02961,EAX02962,EAX02963,EAX02964,BAB55007,BAD96570,BAF83358,AAH15923,CAG30238,Q53GT1,CAK54493,CAK54792,BAH11847 Hs.517419 KELCHL OTTHUMP00000198518|kelch-like protein 22 protein-coding 1605864 KLHL23 kelch-like 23 (Drosophila) 16765319,15489334,14702039,12477932,10737800,19615732 151230 R08525,NM_144711,AC009967,AC016772,CH471058,AK095131,BC010437,BC016950,BQ343827,AK123454,BE326381,BJ990781,CR602210 Q8NBE8,Q96AM2,NP_653312,EAX11261,BAC04490,AAH10437,AAH16950,ADR82752 Hs.655150 DITHP|FLJ37812|FLJ41460|MGC22679|MGC2610 OTTHUMP00000163068|kelch-like protein 23 protein-coding 1603221 KLHL24 kelch-like 24 (Drosophila) 18692513,17254796,14702039,19615732 54800 NM_017644,AC068769,CH471052,CQ859794,AK000066,AK024270,AK026326,AY422472,BC142993,BX648466,BX648812,DQ925701,AK098662 NP_060114,EAW78319,EAW78320,CAH25947,BAA90921,BAB15447,AAR13703,AAI42994,CAI46031,CAI46002,ABI96896,Q6TFL4,AAI43061 Hs.407709 DRE1|FLJ25796|KRIP6 OTTHUMP00000211002|OTTHUMP00000212605|kainate receptor interacting protein for GluR6|kainate receptor-interacting protein for GluR6|kelch-like protein 24 protein-coding 1605054 KLHL25 kelch-like 25 (Drosophila) 11256614,17903295,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863 64410 NM_022480,AC021739,CH471101,AK022649,AK056663,AK092231,AK126962,AK315541,AL109693,AL136796,AY764034,BC028100,DA337553,DB063745 NP_071925,EAX01979,BAB14155,BAG51779,BAG52499,BAG37919,CAB66730,AAV51405,AAH28100,Q9H0H3,Q9H9R6,CAL37895,CAL38651,ABZ92048 Hs.498371 ENC-2|ENC2|FLJ12587|FLJ45015 BTB/POZ KELCH domain protein|ectoderm-neural cortex protein 2|ectodermal-neural cortex 2|kelch-like protein 25 protein-coding 1602473 KLHL26 kelch-like 26 (Drosophila) 16713569,15489334,14702039,12477932,9373149,8125298,16169070 55295 NM_018316,AC004476,AC008998,CH471106,AK001940,AK222656,BC026319,AK294074 NP_060786,EAW84728,EAW84729,BAA91990,BAD96376,AAH26319,Q53HC5,BAG57416 Hs.250632 FLJ11078 kelch-like protein 26 protein-coding 1322718 KLHL28 kelch-like 28 (Drosophila) 1580863 16344560,15489334,14702039,12477932,9373149 54813 NM_017658,AL049870,CH471078,AK000088,AK225183,AK225211,AK289855,AL713035,BC057794,BC121009,BC121010,BM998529,CA433205,DA247273,DA529695 NP_060128,EAW65792,EAW65793,EAW65794,EAW65795,BAA90937,BAF82544,AAI21010,AAI21011,Q9NXS3 Hs.550906 BTBD5|FLJ20081 BTB (POZ) domain containing 5|BTB/POZ domain-containing protein 5|OTTHUMP00000178912|btb (poz) domain containing 5|kelch-like protein 28 protein-coding 1605890 KLHL29 kelch-like 29 (Drosophila) 19240061,15489334,14702039,12477932,11572484,10737800,19913121,20628086,20379614 114818 NM_052920,AC009242,AC011239,AC012506,CH471053,AA775711,AB067508,AK024168,AK094600,AL834515,BC013982,BC015667,BC069271,BE142100,DR002067 NP_443152,AAY14852,EAX00791,BAB67814,CAD39171,AAH13982,AAH15667,AAH69271,Q53T86,Q6NT65,Q96CT2 Hs.130593,Hs.723419 KBTBD9|KIAA1921 OTTHUMP00000216456|kelch repeat and BTB (POZ) domain containing 9|kelch repeat and BTB domain-containing protein 9|kelch-like protein 29 protein-coding 1346820 KLHL3 kelch-like 3 (Drosophila) 1580863 10843806,16344560,15372022,14702039,12477932,11259487,10734137,10574461 26249 AC106775,CH471062,AB032955,AF208068,AF208069,AF208070,AK300172,AK303916,AK310568,AK311594,AK314707,BC034035,BC045683,CR605632,CR625476,DA083147,NM_017415,AC004021,AC092318 EAW62183,EAW62184,BAA86443,AAF20938,AAF20939,AAF20995,BAH13228,BAH14080,BAG37254,AAH34035,AAH45683,Q49A42,Q8N4I8,Q9UH77,NP_059111,AAB97127 Hs.655084 FLJ40871|KIAA1129|MGC44594 OTTHUMP00000223401|OTTHUMP00000223402|OTTHUMP00000223403|kelch-like protein 3 protein-coding 1606872 KLHL30 kelch-like 30 (Drosophila) 15489334,14702039,12477932 377007 NM_198582,AC016757,CH471063,AK125364,BC103703,BC104749,BC105696,BX280405 NP_940984,EAW71141,BAC86148,AAI05697,Q0D2K2 Hs.591595 FLJ43374 OTTHUMP00000202680|kelch-like protein 30 protein-coding 1348720 KLHL31 kelch-like 31 (Drosophila) 12477932,18719355,15302408,14702039,14574404 401265 NM_001003760,AL157773,CH471081,BC137267,BC137269,EF633513 NP_001003760,CAC16284,EAX04428,AAI37268,AAI37270,ABR23528,Q9H511 Hs.131064 BKLHD6|KBTBD1|KLHL|bA345L23.2 BTB and kelch domain-containing protein 6|OTTHUMP00000016633|kelch repeat and BTB (POZ) domain containing 1|kelch repeat and BTB domain-containing protein 1|kelch repeat and btb (poz) domain containing 1|kelch-like protein 31|kelch-like protein KLHL protein-coding 1321228 KLHL32 kelch-like 32 (Drosophila) 1580863 16344560,14702039,12477932,11572484 114792 AL023656,AL033375,AL356958,CH471051,AB067487,AF351610,AK055292,NM_052904,AK297240,BC031830,BC047491,BC071627,DA296671,DC314842,AK295479 NP_443136,CAI20427,CAI20428,CAI19823,CAI19824,CAI21654,EAW48497,EAW48498,EAW48499,EAW48500,BAB67793,AAN76510,BAB70899,BAH12082,BAH12528,AAH71627,Q6IQ08,Q8IXH0,Q96NJ5 Hs.45056 BKLHD5|KIAA1900|MGC51280|MGC87753|RP1-39B17.1|UG0030H05|dJ21F7.1 BTB and kelch domain containing 5|BTB and kelch domain-containing protein 5|kelch-like protein 32 protein-coding 1642111 KLHL33 kelch-like 33 (Drosophila) 12477932,16368877 123103 NM_001109997,AL355075,CH471078,BC146951,BC146954,BC151130,BY797694 NP_001103467,EAW66474,AAI46952,AAI46955,AAI51131,A6NCF5 Hs.556014 kelch-like protein 33 protein-coding 1603872 KLHL34 kelch-like 34 (Drosophila) 15772651,15489334,14702039,12477932 257240 NM_153270,AL772392,CH471074,AK092279,BC109031 NP_695002,CAI40764,EAW98979,BAC03848,AAI09032,Q8N239 Hs.448572 FLJ34960|MGC125650|RP11-450P7.3 kelch-like protein 34 protein-coding 1603871 KLHL35 kelch-like 35 (Drosophila) 14702039,12477932,15761153 283212 NM_001039548,AP000744,CH471076,AK091109,BC042952,BC057763,BC131539,BC132708,BC132710,BI464945,AL050370 NP_001034637,EAW74964,EAW74965,EAW74966,BAC03585,AAH42952,AAH57763,AAI32709,AAI32711,Q6PF15,ADR82981 Hs.292451 26597|DKFZp566C0546|FLJ33790 OTTHUMP00000164943|kelch-like protein 35 protein-coding 1350475 KLHL36 kelch-like 36 (Drosophila) 12477932,15489334,14702039,20966902 79786 NM_024731,AC009116,CH471114,AK022605,AK074056,AK122745,BC032400,BC033821 NP_079007,EAW95473,EAW95474,BAB14124,BAB84882,AAH32400,AAH33821,Q8N4N3,Q8TER6,ABZ92060,ADR82747 Hs.578546 C16orf44|FLJ12543 kelch-like protein 36 protein-coding 2300033 KLHL38 kelch-like 38 (Drosophila) 12477932,20379614 340359 NM_001081675,AC135166,CH471060,AB196636,BC127886 NP_001075144,EAW92045,BAE53438,AAI27887,Q2WGJ6 Hs.719947 C8ORFK36 kelch-like protein 38 protein-coding 1349490 KLHL4 kelch-like 4 (Drosophila) This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 10888605,18039948,16344560,15772651,14702039,12477932,11499681,11401425,11214970,18029348 56062 NM_057162,AL035424,AL121884,CH471104,Z95400,AB051474,AF284765,AF284766,AK022715,AK023057,AK056457,AL831868,AL832514,BC140839,BC140840,BC142652,BC146677,BC161675,NM_019117,DB083610,NG_012815 NP_061990,NP_476503,CAI42084,CAI42085,EAW98552,EAW98553,CAI42740,CAI42741,BAB21778,AAK49441,AAK49442,BAB14199,BAB14382,BAG51715,CAD38558,CAI46201,AAI40840,AAI40841,AAI42653,AAI46678,AAI61675,Q8N3U5,Q9C0H6,Q9H955 Hs.49075 DKELCHL|KHL4|KIAA1687 kelch-like protein 4 protein-coding 1320120 KLHL5 kelch-like 5 (Drosophila) 1580863 15815621,15489334,14702039,14672410,12477932,11590829 51088 AY172948,BC010867,BC048262,BC053860,BC058884,BC081562,BQ438207,BX478676,AK289785,NM_001007075,NM_015990,NM_199039,AC079921,CH471069,AB208820,AF272976,AK001698,AK001836,AK002174,AA715102,AK002175,AL049385,CR604008,DB451501,DR006899,NM_001171654 BAF82474,AAO39710,AAH48262,AAH53860,AAH58884,AAH81562,Q59HD9,Q642I3,Q6PD75,Q6Y881,Q7Z6D5,Q96PQ7,AAI60163,NP_001007076,NP_057074,NP_950240,EAW92908,EAW92909,EAW92910,EAW92911,EAW92912,EAW92913,EAW92914,BAD92057,AAL08584,BAA91845,BAA91933,BAA92121,NP_001165125 Hs.272251 DKFZp586M1418|FLJ11313 OTTHUMP00000123484|OTTHUMP00000218210|kelch-like protein 5|lymphocyte activation-associated protein protein-coding 1316764 KLHL6 kelch-like 6 (Drosophila) 1580863 15489334,15342556,14702039,12617994,12477932,11214971 89857 NM_130446,AC069211,AC092960,CH471052,AF441792,AK024439,AK097125,AK314473,AL833667,BC032348,BP284594,BX648370 NP_569713,EAW78323,EAW78324,EAW78325,EAW78326,AAL35594,BAB15729,BAC04957,BAG37078,AAH32348,Q8WZ60,Q9H7N9,ABM85714,ABW03726 Hs.659147 FLJ00029 kelch-like protein 6|kelch-like protein KLHL6 protein-coding 1313665 KLHL7 kelch-like 7 (Drosophila) 1580863 11256614,19520207,16918702,15489334,14702039,12853948,12477932,11230166,9847074,20547956,18029348 55975 NM_018846,NM_001031710,AC005082,AC006039,AC073992,CH236948,CH471073,AF111113,AK056390,AK290479,AK296219,AK297369,AK297421,AK297595,AK299006,AL136597,AY028802,BC009555,BC039585,DC370850,EF560731,AA432360,BG704835,NG_016983,NM_001172428,NR_033328,NR_033329 NP_061334,NP_001026880,AAO21916,EAL24261,EAW93770,EAW93771,EAW93772,EAW93773,EAW93774,AAF27196,BAB71175,BAF83168,BAH12285,BAH12563,BAH12577,BAH12623,BAH12925,CAB66532,AAK29099,AAH09555,AAH39585,ABQ59041,Q8IWW9,Q8IXQ5,ACE87231,ACE86550,ACE86588,ACE87822,ACT64372,NP_001165899 Hs.654817 KLHL6|RP42|SBBI26 OTTHUMP00000202036|kelch-like 6|kelch-like protein 7|kelch/BTB protein-coding 1312275 KLHL8 kelch-like 8 (Drosophila) 1580863 16713569,16381901,15489336,15489334,12477932,12168954,11230166,11076863,10718198,19615732,20800603 57563 NM_020803,AC092658,CH471057,AB037799,AK128827,BC041370,BC041384,BC041901,BX538173,BX640727,BX640744,BX647454,BX648367,CR625767,CR749265 NP_065854,EAX05982,EAX05983,EAX05984,BAA92616,BAG54740,AAH41384,AAH41901,CAD98048,CAE45843,CAE45855,CAH18121,Q49A95,Q68DU9,Q6N018,Q7Z330,Q9P2G9,CAL38560 Hs.106601 FLJ46304|KIAA1378 OTTHUMP00000219457|OTTHUMP00000219459|kelch-like protein 8 protein-coding 1347061 KLHL9 kelch-like 9 (Drosophila) 1580863 20574843,9847074,20554658,14702039,12477932,10718198,17543862,19615732,19995937 55958 NM_018847,AL162420,CH471071,AB037775,AK022805,AK023630,AK025468,AK091715,AL713669,AY172949,BC039133,BC052776,BC064958,BC105008,BC113513,BX538121,CR622338,DR978657 NP_061335,CAH73191,EAW58614,BAA92592,BAB14623,BAG52403,CAD28475,AAO39718,AAH39133,AAI05009,AAI13514,CAD98027,Q5JC44,Q7Z350,Q9H8J3,Q9P2J3 Hs.522029,Hs.701778,Hs.710126 FLJ21815|RP11-380P16.6 kelch-like protein 9 protein-coding 1349866 KLK1 kallikrein 1 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq] 1641802,1641805,1641800,1641797,1641812,1580863,1641794,1358144,1641806,1641795,1641799,1581753,1581751,1581752 20482314,16800723,16465461,16129698,15905889,15855348,15765151,15662224,15651049,15611141,15544850,15489334,15364809,15167446,15086490,14988406,14660481,12887060,12670744,12581867,12492488,12477932,12372819,11913965,11912256,11849458,11727832,11258672,11130770,11054574,11016932,11006094,10862973,9857240,9368023,9276160,7916636,7749374,7733886,7492318,3853975,3635530,3163150,3004571,2898948,2666327,1783409,1691151,1684954,1385301,16957554,393608,16800724,2686621,19232384,19082699,18844446,18725990,18713009,18689794,18627303,18577888,18402547,18359858,18327081,18283336,18182238,17804733,17762646,17761919,17699431,17671125,17158887,17050061,19913121,20613781,20628086,18344018,19423540,19558318,19578768,20143645,20225398,20406964,20424135,20438785,20516044,20533273,7749372 1641802,1641805,1641800,1641797,1641812,1641794,1358144,1641806,1641795,1641799,1581753,1581751,1581752 3816 NG_012094,AC010325,AF243527,AF277050,AY094609,CH471135,L10038,M33105,M33109,AY429508,AY703451,BC005313,NM_002257,BT007253,M12706,M25629,S77952,X13561 NP_002248,AAG33353,AAF86333,AAM11874,EAW71912,EAW71913,EAW71914,AAA36135,AAA59455,AAR10467,AAU12569,AAH05313,AAP35917,AAA59201,AAA36136,AAB34120,CAA31912,P06870,Q07277,Q6T776,Q9UE84,ABM83998,ABM87327 Hs.123107 KLKR|Klk6|hK1 glandular kallikrein 1|kallikrein 1, renal/pancreas/salivary|kallikrein serine protease 1|kallikrein-1|kidney/pancreas/salivary gland kallikrein|tissue kallikrein protein-coding 1606032 KLK10 kallikrein-related peptidase 10 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq] 2314845,2314846,2314847,2314848,2314849,2314851,2314850 8764136,19383315,19085836,19064572,18855978,18854834,18515984,17937626,17182177,16928223,16800740,16800735,16800732,16800724,16800723,16647913,16341674,19558318,19560453,19760608,20086175,20424135,16254462,16103744,15489334,15057824,14972646,14696124,12970725,12477932,12185203,12087468,11920956,11705853,11054574,10969073,10675891,9809976,9647736,9533035,8889548,16169070,20686372 2314845,2314846,2314847,2314848,2314849,2314851,2314850 5655 NM_001077500,NM_002776,NM_145888,AC011473,AF055481,AF243527,AY561634,CH471135,AF024605,AK292365,AK309456,AY561635,BC002710,BM830577,BU685208,CR450327,GN341816 NP_001070968,NP_002767,NP_665895,AAG23256,AAC14266,AAG33363,AAS66975,EAW71967,EAW71968,EAW71969,AAB81602,BAF85054,AAS66976,AAH02710,CAG29323,O43240,Q6ICR6,ABM81676,ABM84843,CAY39327 Hs.275464 NES1|PRSSL1 breast normal epithelial cell associated serine protease|kallikrein 10|kallikrein-10|normal epithelial cell-specific 1|protease serine-like 1|protease, serine-like, 1 protein-coding 1318610 KLK11 kallikrein-related peptidase 11 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in two transcript variants encoding two different isoforms which are differentially expressed. [provided by RefSeq] 19383315,19190824,18515984,16911518,16800740,16800724,16800723,15893744,15489334,15329323,15102682,15057824,12975309,12845660,12736044,12539228,12477932,11782391,11550212,11054574,10872828,10662548,9765601,19184568,19242826,19560453,20424135,17207965 11012 NM_006853,NM_144947,NM_001136032,AC011473,AF164623,AF243527,CH471135,AB012917,AB013730,AB041036,AB078780,AB259014,AB261897,AK308207,AY359014,BC015551,BC022068,BG697071,NM_001167605 NP_006844,NP_659196,NP_001129504,AAG23257,AAD47815,AAG33364,EAW71970,EAW71971,EAW71972,BAA33404,BAA88713,BAA96797,BAC54105,BAF02733,BAE95335,AAQ89373,AAH22068,Q0WXX5,Q8IXD7,Q9UBX7,NP_001161077,ADQ31834 Hs.57771 MGC33060|PRSS20|TLSP hK11|hippostasin|kallikrein 11|kallikrein-11|protease, serine, 20 trypsin-like|protease, serine, trypsin-like|serine protease 20|trypsin-like protease protein-coding 1319061 KLK12 kallikrein-related peptidase 12 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq] 11054574,15300858,17391064,16800724,16800723,15057824,12975309,12477932,11056051,11006094,10969073,10675891,10652563,20424135 43849 NM_145895,NM_145894,NM_019598,AC011473,AF135025,AF243527,CH471135,AY358524,BC035385,BC136341,BC143988,BC143990,BC143991,BX648580 NP_665902,NP_665901,NP_062544,AAG23258,AAD26426,AAF06065,AAF06066,AAG33365,EAW71973,EAW71974,EAW71975,EAW71976,EAW71977,EAW71978,AAQ88888,AAH35385,AAI36342,Q49AM7,Q9UKR0,Q9UKR2 Hs.411572 DKFZp686H1078|KLK-L5|KLKL5|MGC42603 kallikrein 12|kallikrein-12|kallikrein-like protein 5 protein-coding 1319630 KLK13 kallikrein-related peptidase 13 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq] 2314862,2314865,1580863 17922479,19558318,19707197,20424135,14687906,10766816,12642628,18627302,16847813,16800724,16800723,15489334,15381110,15057824,12970725,12925213,12477932,11986781,11848466,11054574,11006094,10675891,17207965 2314862,2314865 26085 EU091477,AC011473,AF135024,CH471135,AB108823,AB108824,AB451465,AL050220,AY923171,AY923172,AY923173,AY923174,AY923175,BC069334,BC069543,NM_015596 ABU63130,Q86VI7,Q86VI8,Q9UKR3,NP_056411,AAG23259,AAD26425,EAW71979,EAW71980,EAW71981,BAC75825,BAC75826,BAG70279,CAB43320,AAX30052,AAX30053,AAX30054,AAX30055,AAX30056,AAH69334,AAH69543,Q5BQ95,Q5BQ97,Q5BQ99,ADQ32940 Hs.165296 DKFZp586J1923|KLK-L4|KLKL4 kallikrein 13|kallikrein-13|kallikrein-like gene 4|kallikrein-like protein 4 protein-coding 1318477 KLK14 kallikrein-related peptidase 14 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. An additional transcript variant has been described but its full length nature has not been determined. [provided by RefSeq] 1580863 10969073,19383315,19147544,18627302,18497543,18482984,18056261,17625593,17158887,17110383,16800737,16800724,16800723,16434994,15843175,15654974,15057824,12858357,12477932,12439719,11352573,11309303,16885167,19558318,20155713,20424135 43847 NM_022046,AC011473,AF161221,AF283669,CH471135,AF283670,BC074904,BC074905,BC114614 NP_071329,AAG23260,AAD50773,AAK48523,EAW71982,EAW71983,AAK48524,AAH74904,AAH74905,AAI14615,Q9P0G3 Hs.283925 KLK-L6 OTTHUMP00000184888|hK14|kallikrein 14|kallikrein-14|kallikrein-like protein 6 protein-coding 1322213 KLK15 kallikrein-related peptidase 15 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 20473923,19913121,20628086,11010966,16800724,16800723,15489334,14759258,12915603,12477932,12439720,11901813,11327827,11054574,11006094,10675891,8018728,19423540,19823874,19902474,20067463,20406964,20424135,20438785,20460480,17207965 55554 NM_138563,NM_017509,NM_138564,AC010325,AF242195,AF243527,CH471135,AF303046,AY373373,AY373374,BC069480,BC069507,BC069518,BC126137,BC144045,BC144046,BC144047,X75363 NP_612630,NP_059979,NP_612631,AAG09469,AAG09470,AAG09471,AAG09472,AAG33354,EAW71915,EAW71916,EAW71917,EAW71918,EAW71919,EAW71920,EAW71921,AAK62813,AAQ82620,AAQ82621,AAH69480,AAH69507,AAH69518,AAI26138,AAI44047,CAA53145,Q6ISI0,Q6UBM2,Q96RQ0,Q9H2R5,ADR82887,ADQ32882 Hs.567535 ACO|HSRNASPH ACO protease|kallikrein 15|kallikrein-15|kallikrein-like serine protease|prostinogen protein-coding 1346385 KLK2 kallikrein-related peptidase 2 1580863 1783409,1726490,9016396,10463585,19434652,19372141,19318432,19223501,19003994,18567807,18451133,17657743,17593395,17257635,17085659,16800724,16800723,16388506,16344560,16152616,15643194,15542435,15489334,15203212,15057824,12805332,12477932,12209605,12124798,11834722,11745444,11358513,11130770,11054574,10991942,10969073,10773882,10544017,10411640,10391209,10386814,10209959,10197620,9428387,9368023,9042371,2824146,2468530,14759258,19913121,20620409,20628086,19423540,19558318,19823874,19902474,20406964,20424135,20438785,20460480,21071540 3817 NM_005551,AC037199,AF243527,CH471135,M18157,AF188745,AF188746,AF188747,AF336106,AK300527,AK300549,AK300566,AK309973,AK309982,AK309985,AK315890,AY429509,AY429510,BC005196,BT006650,BX641830,CR589977,DA865689,S39329,NM_001002231 NP_001002231,NP_005542,AAG33356,EAW71937,EAW71938,EAW71939,EAW71940,EAW71941,EAW71942,AAA74454,AAF08275,AAF08276,AAF08277,AAL73209,BAG62239,BAG62255,BAG62272,BAF98781,AAR10468,AAR10469,AAH05196,AAP35296,AAD13816,AAD13817,P20151,Q6T774,Q6T775,Q8WXU4,ABM81598,ABM84779 Hs.515560 KLK2A2|MGC12201|hK2 glandular kallikrein 2|glandular kallikrein-1|hGK-1|kallikrein 2, prostatic|kallikrein-2|tissue kallikrein-2 protein-coding 1343198 KLK3 kallikrein-related peptidase 3 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq] 1580863,2301715 20673345,20180647,16425097,16424004,16398402,16365023,16302261,16247489,16172228,16172196,16152616,16091872,16004602,15936010,15893813,15680901,15599941,15563730,15543614,15531881,15489334,15389580,15350307,15340161,15233555,15203212,15050736,15017213,15014041,14761877,14696124,14693733,14643026,14627807,14607215,14584757,12970746,12970732,12949939,12865450,12782640,12626390,12589022,12496487,12477932,12398228,12376473,12362977,12210484,12209605,12168876,12124798,12111704,12032296,11909978,11839651,11834722,11784334,11735417,11502200,11391681,11342264,11327827,11317942,11299734,11054574,11027412,11017939,10969073,10759471,10646852,10604721,10511594,10374881,10218588,9857240,9751643,9261179,9146608,9092810,9062481,9016396,8849579,8843739,8753751,8732755,8683730,8665956,8583572,7539415,7538844,7535613,7527295,7521173,7509746,3691515,2472789,2471958,2470553,2470373,2467258,2466464,2458104,2456523,2436946,2422647,1702714,1383255,15542435,15829968,16472761,10675891,18029348,14718574,19440015,19440014,19440011,19434657,19434652,19414393,19380444,19318432,19250630,19159616,19155468,19152248,19126541,19116992,19109947,19108411,19095061,19032406,19003994,18977589,18827812,18794092,18768516,18722876,18645681,18645024,18627304,18627292,18619642,18535354,18516323,18515984,18500692,18495332,18491956,18446367,18440312,18431597,18427570,18402773,18356135,18336535,18306354,18264097,18245536,18222179,18202763,18187150,18061650,17987534,17961073,17894328,17721809,17721190,17718721,17657743,17641982,17635240,17593395,17507624,17440964,17426252,17394194,17387315,17257635,17151093,17094454,16934957,16859836,16800724,16800723,16775173,16774685,16741919,16708371,16699296,16675575,16581345,19107370,20558981,20616526,21160077,15174051,19399601,19489685,19542190,19558318,19659608,19690023,19705489,19729499,19823874,19855435,19902474,19937596,20086117,20099974,20215802,20218317,20228531,20424135,20432434,20460480,20299777,20435461,20726802,19913121,20564319,20628086,20632874,20800603,21071540 2301715 354 NM_001648,NM_001030048,NM_001030050,NG_011653,AC011523,AF243527,CH471135,NM_001030047,M24543,M27274,X13940,X13941,X13942,X13943,X13944,X14810,AF335477,AF335478,AJ310937,AJ310938,AJ459782,AJ459783,AJ459784,AJ512346,AK312933,BC005307,BC050595,BC056665,BF679511,BQ932072,BT019862,DQ641251,M21895,M21896,M21897,M26663,S75755,U17040,X05332,X07730 NP_001025218,NP_001639,NP_001025219,NP_001025221,AAG33355,EAW71922,EAW71923,EAW71924,EAW71925,EAW71926,EAW71927,EAW71929,EAW71930,EAW71931,EAW71932,EAW71933,EAW71934,EAW71935,EAW71936,AAA60193,AAA60192,CAA32123,CAA32124,CAB46487,CAA32126,CAA32127,CAA32915,AAL73204,AAL73205,CAC41631,CAC41632,CAD30844,CAD30845,EAW71928,CAD30846,CAD54617,BAG35776,AAH05307,AAH50595,AAH56665,AAV38665,AAA59995,AAA59996,AAA59997,AAA58802,AAD14185,AAA56764,CAA28947,P07288,Q15096,Q15098,Q546G3,Q6LDS3,Q8IXI4,Q8NCW4,Q8WTQ8,Q96A30,ABM81596,ABM84777 Hs.171995 APS|KLK2A1|PSA|hK3 P-30 antigen|gamma-seminoprotein|kallikrein 3, (prostate specific antigen)|kallikrein-3|prostate specific antigen|prostate-specific antigen|semenogelase|seminin protein-coding 1353266 KLK4 kallikrein-related peptidase 4 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Alternate splice variants for this gene have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863,2314853,2314856,2314857,2314852,2314854 17207965,10438493,10077646,19372141,19190825,18714142,18687310,18567807,18308730,18221492,17545602,17221837,16800736,16800724,16800723,16704423,16497155,16322328,16172196,15489334,15235027,15059887,15057824,12477932,12077288,11735417,11506707,11327827,11258672,11124349,11054574,10863090,10575207,10485467,9465170,20180634,20406994,15862967,19423540,19795418,19966041,20009893,20056842,20406964,20424135,20438785,20460480 2314853,2314856,2314857,2314852,2314854 9622 NG_012154,AC011483,AF113141,AF135023,AF148532,AF228497,AF243527,CH471135,AF113140,AF126401,AF259964,AF259965,AF259966,AF259967,NM_004917,AF259968,AF259969,AF259970,AF259971,AY923170,BC069325,BC069403,BC069429,BC069489,BC096175,BC096176,BC096177,BC096178 ADQ32870,NP_004908,AAD21581,AAD26424,AAD38019,AAL14780,AAL14781,AAL14782,AAF70620,AAG33357,EAW71943,EAW71944,EAW71945,AAD21580,AAG43246,AAK71700,AAK71701,AAK71702,AAK71703,AAK71704,AAF81227,AAK71705,AAK71706,AAX30051,AAH69325,AAH69403,AAH69429,AAH69489,AAH96175,AAH96176,AAH96177,AAH96178,Q4VB17,Q4VB18,Q5BQA0,Q96JD7,Q96JD8,Q96JD9,Q96JE0,Q96JE1,Q96JE2,Q96PT0,Q96PT1,Q96RU5,Q9Y5K2 Hs.218366 AI2A1|ARM1|EMSP|EMSP1|KLK-L1|MGC116827|MGC116828|PROSTASE|PRSS17|PSTS androgen-regulated message 1|enamel matrix serine protease 1|enamel matrix serine proteinase 1|kallikrein-4|kallikrein-like protein 1|prostase|serine protease 17 protein-coding 1320514 KLK5 kallikrein-related peptidase 5 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 10608802,11054574,10514489,19453546,19383346,19190824,19118981,19085836,18221492,18163887,17881000,17625593,17459052,17158887,17012259,16800723,16628198,16517595,15766562,15713679,15675955,15654974,15489334,15140227,12890555,12738725,12477932,12385949,11948967,11237385,10969073,10675891,10652563,9373149,8125298,12975309,16885167,19194479,19558318,19560453,19820362,20090765,20424135 25818 AK223421,AY279380,AY279381,AY359010,AY461805,BC008036,BT006867,NM_001077492,NM_001077491,AC011483,AF135028,AF243527,CH471135,AF168768,AF435980,AF435981,NM_012427 AAN63607,BAD97141,AAP42275,AAP42276,AAQ89369,AAR23814,AAH08036,AAP35513,Q53F68,Q53ZR3,Q6S9W8,Q8IU55,Q9Y337,ABM81603,ABM84784,NP_036559,NP_001070960,NP_001070959,AAD26429,AAG33358,EAW71946,EAW71947,EAW71948,EAW71949,EAW71950,EAW71951,EAW71952,AAF03101,AAN63606 Hs.50915 KLK-L2|KLKL2|SCTE kallikrein 5|kallikrein-5|kallikrein-like protein 2|stratum corneum tryptic enzyme protein-coding 736738 KLK6 kallikrein-related peptidase 6 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. The encoded enzyme is regulated by steroid hormones. In tissue culture, the enzyme has been found to generate amyloidogenic fragments from the amyloid precursor protein, suggesting a potential for involvement in Alzheimer's disease. Multiple alternatively spliced transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq] 1358597,2314866,2314855,2314863,2314864,2314865,2314867,1358599,1358604,1358596,1580863 18627290,18359858,17158887,16800739,16800724,16800723,16341674,16321973,16203767,15867230,15837738,15627893,15584920,15557757,15489334,15255184,15207701,16885167,18992199,19423540,19558318,19560453,19707197,20406964,20424135,20438785,12709365,12878203,12589961,11668196,12016211,19383923,19088065,18957059,18854834,12928483,12480753,12477932,12232761,12074831,12023317,11983703,11054574,10610719,9312124,9003450,8898378,14696124,19950700 1358597,2314866,2314855,2314863,2314864,2314865,2314867,1358599,1358604,1358596 5653 NM_002774,CR608439,D78203,DQ223012,U62801,NM_001012964,NG_011825,AC011483,AF149289,AF243527,CH471135,AF013988,AK314897,AY279383,AY318867,AY318868,AY318869,AY318870,AY457039,BC015525,BM763657,BT006852,NM_001012965,GN341818 NP_002765,AAP35498,BAA11306,ABB04464,AAB07113,Q6JIA6,Q92876,ABM84474,ABM84771,NP_001012983,NP_001012982,AAD51475,AAG33359,EAW71953,EAW71954,EAW71955,EAW71956,EAW71957,AAB66483,BAG37411,AAP82446,AAP82448,AAR23148,AAH15525,CAY39328 Hs.79361 Bssp|Klk7|MGC9355|NEUROSIN|PRSS18|PRSS9|SP59|ZYME|hK6 kallikrein 6|kallikrein-6|neurosin|protease M|serine protease 18|serine protease 9|zyme protein-coding 1315024 KLK7 kallikrein-related peptidase 7 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded enzyme is thought to be involved in the proteolysis of intercellular cohesive structures preceding desquamation, which is the shedding of the outermost layer of the epidermis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq] 19118981,19350120,19423540,19453546,19558318,19921697,20090765,20406964,20424135,20438785,8034709,19091121,19085836,18976018,18953252,18774391,18343220,18329042,18325919,18163887,17989887,17909180,17012259,16800724,16800723,16628198,15766562,15675955,15489334,15297163,15191543,15140227,14972646,14691584,12738725,12477932,11054574,10974542,7794273,20944116 5650 NM_005046,NM_139277,A42048,AC011483,AF166330,AF243527,AF332583,CH471135,CQ785390,AF411214,AF411215,AK289660,AK295313,AY601109,AY646152,BC032005,DQ018784,L33404 NP_005037,NP_644806,CAA02644,AAD49718,AAG33360,AAK69624,EAW71958,EAW71959,EAW71960,EAW71961,CAG17626,AAN03662,AAN03663,BAF82349,BAG58291,AAU04540,AAT66047,AAH32005,AAY97797,AAC37551,P49862,Q6DTY1,ABM81672,ABM84842 Hs.151254 PRSS6|SCCE hK7|hSCCE|kallikrein 7 (chymotryptic, stratum corneum)|kallikrein-7|protease, serine, 6|serine protease 6|signal protein|stratum corneum chymotryptic enzyme protein-coding 1314360 KLK8 kallikrein-related peptidase 8 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in four transcript variants encoding four different isoforms. The isoforms exhibit distinct patterns of expression that suggest roles in brain plasticity and ovarian cancer. [provided by RefSeq] 16337200,19125171,19085836,18354391,17487847,17178872,16800733,16800724,16800723,15282331,15138549,15057824,14749636,17207965,20360129,12975309,12477932,11309326,11054574,10969073,10485494,10102990,9714609,17761692,19194479,19558318,20424135,20614312 11202 EU350538,EU350539,NM_144507,NM_144506,NM_144505,NM_007196,AB010780,AB012761,AC011473,AC011483,AF095743,AF243527,AF251125,AY563055,AY563056,AY563057,AY563058,AY563059,AY563060,AY563061,AY563062,AY563063,AY563064,AY563065,AY563066,AY563067,CH471135,AB008390,AB008927,AB009849,AF095742,AY359036,BC040887,CR601157 ACB05869,ACB05870,O60259,Q2XQG5,NP_653090,NP_653089,NP_653088,NP_009127,BAA88684,BAA28676,AAG23254,AAD29574,AAG33361,AAF79144,AAF79145,AAT76913,AAT76914,AAT76915,AAT76916,AAT76917,AAT76918,AAT76919,AAT76920,AAT76921,AAT76922,AAT76923,AAT76924,AAT76925,AAT76926,AAT76927,AAT76928,AAT76929,AAT76930,AAT76931,AAT76932,AAT76933,AAT76934,AAT76935,AAT76936,AAT76937,AAT76938,EAW71962,EAW71963,EAW71964,BAA82665,BAA82666,BAA28673,AAD25979,AAQ89395,ADQ33103 Hs.104570 HNP|NP|NRPN|PRSS19|TADG14 KLK8 protein type 1|KLK8 protein type 2|hK8|kallikrein 8 (neuropsin/ovasin)|kallikrein-8|neuropsin type 1|neuropsin type 2|ovasin|serine protease 19|serine protease TADG-14|tumor-associated differentially expressed gene 14 protein protein-coding 1317964 KLK9 kallikrein-related peptidase 9 KLK9 belongs to the kallikrein subgroup of serine proteases, which have diverse physiologic functions in many tissues. For background information on kallikreins, see MIM 147960.[supplied by OMIM] 1580863 11691797,11054574,16800724,16800723,15057824,10652563,10783266,12477932,20424135 284366 NG_027832,NM_012315,AC011473,AF135026,AF243527,CH471135,CS300780,AY551001 NP_036447,AAG23255,AAD26427,AAG22845,AAG33362,EAW71965,EAW71966,CAK32444,AAS55655,Q2XQG4,Q2XQG6,Q6QA55,Q9UKQ9,AAI40230,AAI41614,AAI72590 Hs.448942 KLK-L3|KLK8|KLKL3|MGC50513 kallikrein 9|kallikrein-9|kallikrein-like protein 3 protein-coding 736915 KLKB1 kallikrein B, plasma (Fletcher factor) 1 Plasma prekallikrein is a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. It is synthesized in the liver and secreted into the blood as a single polypeptide chain. Plasma prekallikrein is converted to plasma kallikrein by factor XIIa by the cleavage of an internal Arg-Ile bond. Plasma kallikrein therefore is composed of a heavy chain and a light chain held together by a disulphide bond. The heavy chain originates from the amino-terminal end of the zymogen and contains 4 tandem repeats of 90 or 91 amino acids. Each repeat harbors a novel structure called the apple domain. The heavy chain is required for the surface-dependent pro-coagulant activity of plasma kallikrein. The light chain contains the active site or catalytic domain of the enzyme and is homologous to the trypsin family of serine proteases. Plasma prekallikrein deficiency causes a prolonged activated partial thromboplastin time in patients. [provided by RefSeq] 1580863 10464316,10226805,9535413,8761966,8555184,8280154,8226803,8025275,7944388,7686159,3636155,3521732,1998666,1466300,694428,291905,2551064,11864713,20725119,1993180,2510163,89876,18029348,14718574,19372141,19342086,18713009,18413232,18160576,17922805,17696780,17318641,16335952,16199530,15489334,15146197,12944405,12887060,12754519,12477932,12372819,11434682,11383556,11031105,10604527,10543447,10068459,10962009,19423540,19583818,19620246,20135073,20406964,20438785,500690,20339536 3818 NM_000892,NG_012095,AC110771,AF232734,AF232735,AF232736,AF232737,AF232738,AF232739,AF232740,AF232741,AF232742,AY190920,CH471056,G41320,AK292624,AK297672,AK313378,AW182528,BC117349,BC117351,BC143911,CN265612,M13143 NP_000883,AAY40900,AAF79940,AAN84794,EAX04622,EAX04623,BAF85313,BAG60034,BAG36176,AAI17350,AAI17352,AAA60153,P03952,ADR83088 Hs.237642 KLK3|PPK Fletcher factor|OTTHUMP00000218135|OTTHUMP00000218136|kininogenin|plasma kallikrein|plasma kallikrein heavy chain|plasma kallikrein light chain|plasma prekallikrein protein-coding 1602787 KLKP1 kallikrein pseudogene 1 18196551,16541416,15498522,20103546 606293 NR_002948,AC011483,AC037199,AY302756,DQ086830,AF355199,AF464754,AY533562,DQ086829,DQ211698 AAZ78652,AAQ15170,AAQ04827,AAZ78651,Q107X0 Hs.643424 KARMA|KLK31P|KRSP1|PsiKLK1|YKLK1 pseudo 1345877 KLRA1 killer cell lectin-like receptor subfamily A, member 1 1580863 18426793,16492762,16344560,15146197,12477932,10783260,10369937,9645365,17207965,10457220,19929986,20237496,20379614,12077248,16132082 10748 NR_028045,AC021049,AF126037,CH471094,AF047445,AK290077,AK296103,AK304677,AK310151,AY334570,BC069672,BC069697,BC069734,BC101471,BC101473,BX950927,CN269037,DA776936 AAD44160,EAW96193,EAW96194,EAW96195,AAC35898,BAF82766,BAG58854,BAG65449,AAP94733,AAH69672,AAH69697,AAH69734,AAI01472,AAI01474,O75889,Q6NSY2,Q7Z556,Q9UNG0,ADQ32950 Hs.159297 KLRA#|KLRA1|LY49L|Ly-49L|Ly49|MGC126520|MGC126522 pseudo 1605582 KLRAQ1 KLRAQ motif containing 1 14702039,12477932 129285 NR_024188,NM_001135629,NM_152994,AC093635,CH471053,AK122900,AK172753,AK172762,AK307755,AY092062,AY134855,NM_001193475,BC011978,BC040721,BC111059,BC117279,BC143463,BC143466,AA449986 NP_001129101,NP_694539,AAX93161,EAX00197,EAX00198,EAX00199,EAX00200,EAX00201,BAD18739,BAD18745,AAN08625,NP_001180404,AAH11978,AAH40721,AAI11060,AAI17280,AAI43464,AAI43467,Q6ZMI0 Hs.654619 CCDC128|FLJ16566|MGC111781 KLRAQ motif-containing protein 1|OTTHUMP00000159450|coiled-coil domain containing 128|coiled-coil domain-containing protein 128|smooth muscle myosin heavy chain 11 isoform SM1-like protein-coding 1343225 KLRB1 killer cell lectin-like receptor subfamily B, member 1 Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq] 1580863 8077657,19273624,18663128,18550855,18453569,18219672,18159636,16925668,16455998,16339513,16339512,15489334,14990792,12858173,12477932,12100027,10458753,10229828,9603467,9394825,9341779,9218532,8647203,14987913,20359956,19506219,19711124,19834503,20133607,20237496,20486123 3820 NM_002258,AC006432,CH471094,AK292022,BC027885,BC113997,BC114516,BF432813,U11276 NP_002249,EAW96108,BAF84711,AAI13998,AAI14517,AAA21605,Q12918 Hs.169824 CD161|CLEC5B|MGC138614|NKR|NKR-P1|NKR-P1A|NKRP1A|hNKR-P1A C-type lectin domain family 5 member B|killer cell lectin-like receptor subfamily B member 1|natural killer cell surface protein P1A protein-coding 1353186 KLRC1 killer cell lectin-like receptor subfamily C, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq] 1580863 20139023,20700504,20696944,18056444,17976318,17927829,17767552,17706207,17545086,16951318,16690409,16434388,15687235,15561299,15550116,15528343,15489334,12618865,12477932,12461076,12444112,12387742,12165520,11238637,10488737,9842883,9598306,9486650,9485206,9218532,2007850,11513152,19124726,18981088,18941190,18700876,18500933,18448674,18332182,18172398,18083576,9034158,8943374,8753859,8436421,20550548,20587610,20648603,10320637,19002424,19395088,19615756,19694640,19782712,20012119,20237496,20379614 3821 NM_213657,NM_213658,NM_007328,NM_002259,AB073871,AC068775,AF023840,U54782,U54783,U54784,U54785,U54786,AF461812,AK310992,BC012550,BC053840,X54867,X54868,DB464226 NP_998822,NP_998823,NP_015567,NP_002250,BAB91356,AAC17488,AAB17133,AAL65234,AAH12550,AAH53840,CAA38649,CAA38650,P26715,Q8NIA5,ABM83666,ABM86912,ABM87729 Hs.512576 CD159A|MGC13374|MGC59791|NKG2|NKG2A C-lectin type II protein|CD159 antigen-like family member A|NK cell receptor A|NKG2-1/B activating NK receptor|NKG2-A/B type II integral membrane protein|NKG2-A/B-activating NK receptor|NKG2-A/NKG2-B type II integral membrane protein|natural killer cell lectin|natural killer group protein 2 protein-coding 1349370 KLRC2 killer cell lectin-like receptor subfamily C, member 2 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 9683661,2007850,8436421,19032228,18700876,17767552,15940674,15550116,15489334,14688071,12618865,12477932,11751968,10894168,10320637,9655483,9598306,9486650,9103421,8943374,19395088,19694640,20132973,20379614 3822 NM_002260,AC068775,AJ001684,AF260134,AK295525,BC093644,BC106069,BC112039,X54869,Y13055 NP_002251,CAA04922,AAF86972,BAG58438,AAH93644,AAI06070,AAI12040,CAA38651,CAA73498,P26717,Q3KQS7 Hs.591157 CD159c|MGC138244|NKG2-C|NKG2C CD159 antigen-like family member C|NK cell receptor C|NKG2-C type II integral membrane protein|NKG2-C-activating NK receptor protein-coding 1346640 KLRC3 killer cell lectin-like receptor subfamily C, member 3 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 9683661,11751968,10201920,9598306,8943374,8276468 3823 NM_002261,NM_007333,AC022075,AC068775,AF027164,AJ001685,CH471094,AF078550,AF350016,AF350017,AF461157,L14542 NP_002252,NP_031359,AAC17490,CAA04923,EAW96184,EAW96185,EAW96186,AAD46108,AAK83803,AAK83804,AAL65232,AAA16833,Q07444,Q71V82,AAI60065 Hs.654362 NKG2-E|NKG2E NK cell receptor E|NKG2-E type II integral membrane protein|NKG2-E-activating NK receptor protein-coding 1342769 KLRC4 killer cell lectin-like receptor subfamily C, member 4 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC4 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. The 3' end of the KLRC4 transcript includes the first non-coding exon found at the 5' end of the adjacent D12S2489E gene transcript. [provided by RefSeq] 1580863 9683661,18006695,16397273,15489334,15140575,12477932,12426565,12426564,12133964,11777960,11751968,11567106,11520456,11323699,10426993,9598306,9394807,8436421,20648603,10783260,20654155,20811687,9887346,20237496 8302 NM_013431,AC022075,AF027164,AJ001686,U96846,AF350018,AF350019,AJ001683,BC017784,U96845 NP_038459,AAC17491,CAA04924,AAC51910,AAK83805,AAK83806,CAA04921,AAH17784,AAC51909,O43908,ABM82904,ABM86095 Hs.721094 FLJ17759|FLJ78582|NKG2-F|NKG2F NK cell receptor F|NKG2-F type II integral membrane protein|NKG2-F-activating NK receptor|natual killer cell group 2-F protein-coding 735531 KLRD1 killer cell lectin-like receptor subfamily D, member 1 Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 17976318,17767552,17706207,16378079,16237464,15940674,15561299,15528343,15489334,14734748,14607929,12618865,12477932,12461076,12444112,12387742,12165520,12149421,11751968,11493613,10320637,10201920,10023772,9886400,9815261,9655483,9601951,9598306,9486650,9485206,9472066,9405670,9034158,8943374,8769479,8046333,7589107,11513152,19303396,19124726,18448674,18363778,18332182,18323797,18083576,20648603,19555665,19782712,19811464,19897577,20132973,20237496 3824 NM_002262,NM_007334,NM_001114396,AB010084,AC022075,AJ000673,CH471094,Y14287,AB009597,AF498040,AF498041,AJ000001,AK291506,AY227806,AY327501,BC028009,BC042884,U30610 NP_002253,NP_031360,NP_001107868,BAA24451,CAA04230,EAW96172,EAW96173,EAW96174,EAW96175,CAA74663,BAA24450,AAM70197,AAM70198,CAA03845,BAF84195,AAP57386,AAQ93007,AAH28009,AAC50291,Q13241,Q53ZY6,Q5YLG5,Q8NFL9,Q8NFM0,ABM81956,ABM85135 Hs.562457 CD94 CD94 antigen|KP43|NK cell receptor|natural killer cells antigen CD94 protein-coding 1345828 KLRE1 killer cell lectin-like receptor family E member 1 3825 1343603 KLRF1 killer cell lectin-like receptor subfamily F, member 1 1580863 10671213,18922855,15489334,12477932,11513955,11265639,20237496 51348 AC007068,CH471094,AF175206,AF175207,AF267244,AF267245,AJ305370,BC096734,BC098166,BC098257,NM_016523,BC098354 NP_057607,EAW96124,EAW96125,EAW96126,AAF37804,AAF37805,AAL14873,AAL14874,CAC29425,AAH96734,AAH98166,AAH98257,AAH98354,Q4KMZ4,Q4KN05,Q4KN30,Q9NZS2 Hs.183125 CLEC5C|MGC119907|MGC119908|MGC119909|NKp80 C-type lectin domain family 5 member C|activating coreceptor NKp80|killer cell lectin-like receptor F1|killer cell lectin-like receptor subfamily F member 1|lectin-like receptor F1 protein-coding 4105863 KLRF2 killer cell lectin-like receptor subfamily F, member 2 20194751 100431172 AC091814,GQ398770,NM_001190765 ADC80446,NP_001177694 Hs.725113 NKp65 killer cell lectin-like receptor subfamily F member 2 protein-coding 737284 KLRG1 killer cell lectin-like receptor subfamily G, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. Alternatively spliced transcript variants have been reported, but their full-length natures have not yet been determined. [provided by RefSeq] 1580863 9765598,9842918,19604491,19406987,17617594,17079288,16461340,16189514,16140789,15879103,15368283,12477932,12393723,9862378,1831652,20237496,20379614,20213756,20394788 10219 NM_005810,AC006581,CH471116,AF034952,AF081675,AF097358,AI433079,AK301367,AK316337,BC012621 NP_005801,EAW88594,EAW88595,AAC34731,AAC32200,AAD03719,BAG62909,BAH14708,AAH12621,Q96E93,ABM83746,ABM87065 Hs.558446 2F1|CLEC15A|MAFA|MAFA-2F1|MAFA-L|MAFA-LIKE|MGC13600 C-type lectin domain family 15 member A|C-type lectin domain family 15, member A|ITIM-containing receptor MAFA-L|MAFA-like receptor|killer cell lectin-like receptor subfamily G member 1|mast cell function-associated antigen (ITIM-containing) protein-coding 1604700 KLRG2 killer cell lectin-like receptor subfamily G, member 2 16344560,12477932,20945404 346689 NM_198508,AC005531,CH236950,CH471070,AA742567,AK126174,BC104963,BC104965,BC110858,DB128604 NP_940910,EAL24036,EAW83921,BAC86473,AAI04964,AAI04966,AAI10859,A4D1S0 Hs.17572 CLEC15B|FLJ44186|MGC131846 C-type lectin domain family 15 member B|C-type lectin domain family 15, member B|killer cell lectin-like receptor subfamily G member 2 protein-coding 1347088 KLRH1 killer cell lectin-like receptor subfamily H, member 1 114698 1345052 KLRI1 killer cell lectin-like receptor subfamily I, member 1 359810 735993 KLRK1 killer cell lectin-like receptor subfamily K, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene encodes a member of the NKG2 family, and the encoded transmembrane protein is characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. [provided by RefSeq] 16081780,9598306,15885603,15814668,15699512,15699119,15657183,15652646,15489334,15328155,15187109,15070686,15065764,15051759,14523385,14508119,12902493,12732206,12679019,12646700,12594848,12477932,12426564,12384702,11973127,11777960,11754823,11751968,11323699,11239445,10426994,10426993,10367903,9683661,9394807,8889548,11520456,20415540,11567106,12133964,12426565,12740575,17217747,18602338,18836475,19286259,19631280,19689730,20536569,20883317,21061445,21115900,15240696,2007850,18676862,19587005,19569244,19555665,19542445,19508374,19489688,19454690,19436053,19424970,19363685,19329438,19319200,19303396,19289577,19237603,19200602,19155520,19140827,19124832,19118515,19087227,19086992,19032228,18941207,18832705,18754036,18700876,18658158,18657862,18619507,18599182,18564160,18508446,18490733,18490724,18417514,18398831,18398827,18394936,18361934,18360276,18354183,18316620,18313361,18287244,18280748,18275895,18230726,18202175,18174257,18097042,18094430,18094399,18024793,18023027,18006849,17991774,17923698,17875681,17661204,17635809,17625602,17609265,17570210,17470428,17405908,17267578,17255258,17202358,17173658,17109473,17043026,16914326,16901903,16887974,16849432,16732291,16690951,16630603,16568261,16517727,16344560,16293707,16272287,16239914,16210654,16136475,20587610,20648603,17584663,19038287,19498463,19658097,19711124,19735685,19861434,20008788,20012119,20024547,20045334,20074451,20080967,20150362,20488792,20926796,20511557,20519648,20530257,20393128,18070447 22914 NG_027762,DA933271,NM_007360,AC022075,AJ001687,CH471094,DQ494172,AF260135,AF260136,AK226161,AK292059,BC039836,CB241686,CR597595,CR607215,DA960048 NP_031386,CAA04925,EAW96178,EAW96180,EAW96182,ABF50044,AAF86973,AAF86974,BAF84748,AAH39836,P26718,Q1HEA1 Hs.387787 CD314|D12S2489E|FLJ17759|FLJ75772|KLR|NKG2-D|NKG2D NK cell receptor D|NKG2-D type II integral membrane protein|NKG2-D-activating NK receptor|nkr-p2, ortholog of human nkg2d protein-coding 737300 KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) Kynurenine 3-monooxygenase (KMO; EC 1.14.13.9) is an NADPH-dependent flavin monooxygenase that catalyzes the hydroxylation of the L-tryptophan metabolite L-kynurenine to form L-3-hydroxykynurenine.[supplied by OMIM] 724408,2290313,2290312,1580863 16710414,19626040,9237672,10672018,14704851,16716206,15950064,15342556,12477932,12402501,11401433,21030213 724408,2290313,2290312 8564 NM_003679,AL133390,AL591898,CH471098,AF056032,AK291558,AK310937,BC005297,BP276365,CR593684,CR601734,CR613404,Y13153 NP_003670,CAM28228,CAI13903,CAI13905,CAI13906,CAI13907,EAW70094,EAW70095,EAW70096,AAC62615,BAF84247,AAH05297,CAA73613,O15229,Q9BS61 Hs.409081 dJ317G22.1 OTTHUMP00000037619|kynurenine 3-hydroxylase|kynurenine 3-monooxygenase protein-coding 1352252 KMS Kabuki make-up syndrome 3826 1604992 KNCN kinocilin 16344560,15855039,14702039,12477932 148930 NM_001097611,AL136373,CH471059,AK056573,BC101295,BC101296,BC101297,BC101298,DA208279,DB324949 NP_001091080,CAO03551,EAX06906,BAB71220,AAI01296,AAI01297,AAI01298,AAI01299,A6PVL3,Q494Z7,Q494Z8,Q96MR4 Hs.350764 FLJ32011|Kino|L5|MGC120370|MGC120371|MGC120372|RP11-49P4.2 kinocilin|likely orthologue of Mus musculus kinocilin (Kncn) protein-coding 1351519 KNDC1 kinase non-catalytic C-lobe domain (KIND) containing 1 12477932,11214970,16344560,16385451 85442 NM_152643,AL445199,AB000781,AB051555,AI146357,AI951527,AK057756,AK074179,AK090457,AK131205,AK294170,BC047924,BQ719533,DA388038 NP_689856,CAI17339,CAM24665,BAD12625,BAB21859,BAB71561,BAB85005,BAC03438,BAD18397,BAG57491,AAH47924,Q5U5J6,Q76NI1,Q8NF24,AAI72419 Hs.530685 C10orf23|FLJ16067|RASGEF2|RP13-439H18.3|bB439H18.3 KIND domain-containing protein 1|RasGEF domain family, member 2|cerebral protein 9|kinase non-catalytic C-lobe domain-containing protein 1|protein very KIND|ras-GEF domain-containing family member 2 protein-coding 1603713 KNG1 kininogen 1 High molecular weight kininogen (HMWK) plays an important role in assembly of the plasma kallikrein (see MIM 147910)-kinin system. The KNG1 gene generates both HMWK and low molecular weight kininogen (LMWK) through alternative splicing. Both HMWK and LMWK contain an identical heavy chain consisting of protein domains 1, 2, and 3. However, HMWK contains a 56-kD light chain that consists of domains 5 and 6H, whereas LMWK contains a unique 4-kD light chain that consists of domain 5L. In both proteins, the heavy and light chains are linked by domain 4, which contains the bradykinin (BK) nonapeptide. BK, which is released by plasma kallikrein, is a potent inflammatory mediator that causes vasodilation and enhanced capillary permeability, induces pain, and stimulates production of nitric oxide and prostacyclin (see MIM 601699) from endothelial cells. During vascular damage, BK stimulates smooth muscle proliferation and intimal hypertrophy. Release of BK from HMWK generates a 2-chain HMWK, termed HMWKa, containing the heavy and light chains joined by a disulfide bond (Merkulov et al., 2008 [PubMed 18000168]).[supplied by OMIM] 2311541 12911595,11290596,11385996,16014619,11970955,12715893,18029348,14718574,19330902,19213944,19126685,19086053,19082699,18810490,18783336,18455532,18330734,18156442,18083112,18000168,17635790,17585065,17065357,17050061,16598774,16344560,16335952,16140359,16091369,15086463,15044324,14764580,14760718,14687935,14629481,14597972,14530218,14517215,14506238,12952972,9276160,9269768,8807575,8764310,8761966,8710908,8706894,8662705,8253784,8125298,7944388,7901207,7686159,7589467,7492318,6441591,6406551,4952632,4054110,3936495,3689342,3484703,3366244,3182782,3045123,3038169,2989294,2989293,2460446,2066106,1733668,1652157,1202089,500690,291905,12887060,12851878,12761213,12754519,12748173,12663668,12594059,12576314,12492488,12477932,12452440,12213329,12090937,12082110,12071855,12051729,11920276,11792853,11689005,11677365,11517935,11434682,10887113,10845911,10464316,10066772,9459346,9428707,9373149,16712791,19913121,20628086,16754659,11278902,12173,15028279,18240029,19584173,19716087,19885862,19923143,19966052,20050188,20303064,20379614,2834384,20876611 2311541 3827 M11528,AI133186,AK223589,AK290839,AK298440,AK303768,AK315230,BC026253,BC060039,BG430928,CB148843,CR590667,CR590668,CR591010,CR606410,CR607387,DA537547,K02566,NM_001102416,AC109780,AC112907,AY248697,CH471052,M11437,M11438,M11521,M11522,M11523,M11524,M11525,M11526,M11527,NM_000893,HC918468,CD014130,DC362362,NG_016009,NM_001166451 BAD97309,BAF83528,BAG60660,BAG64734,BAG37659,AAH26253,AAH60039,AAA35497,P01042,Q05CF8,NP_000884,NP_001095886,AAO61092,EAW78179,EAW78180,EAW78181,AAB59550,AAB59551,CBN73461,NP_001159923 Hs.77741 BDK|KNG HMWK|OTTHUMP00000210109|alpha-2-thiol proteinase inhibitor|bradykinin|fitzgerald factor|high molecular weight kininogen|kininogen-1|williams-Fitzgerald-Flaujeac factor protein-coding 1345529 KNO Knobloch syndrome 8776601 3828 1349296 KNPEP lysyl aminopeptidase (aminopeptidase Co) 3829 1317369 KNTC1 kinetochore associated 1 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq] 1580863 19468067,20379614,11146660,12686595,18065224,14702039,11590237,8889549,8724849,17353931,20677014 9735 NM_014708,AC026333,AC127002,CH471054,AA157787,AI916095,AK093470,AK293403,AK303337,BC150278,D79988 NP_055523,EAW98333,EAW98334,BAG52724,BAG56910,BAG64400,AAI50279,BAA11483,P50748 Hs.300559 FLJ36151|KIAA0166|ROD Rough Deal homolog, centromere/kinetochore protein|hRod|hsROD|kinetochore-associated protein 1 protein-coding 1347998 KPNA1 karyopherin alpha 1 (importin alpha 5) Recombination activating proteins RAG1 and RAG2 regulate and mediate V(D)J recombination, the process by which genes for immunoglobulins and T-cell receptors are generated. Several other ubiquitously expressed proteins are thought to be recruited in the recombination process. Among these are the genes affected in severe combined immune deficiency and genes involved in ds-DNA break repair. The protein encoded by this gene interacts with RAG1 and may play a role in V(D)J recombination. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq] 1580863 20193720,10525473,10366569,9918876,9817747,9695948,9603322,9593140,9582382,9562972,9557700,9548947,9463369,9436978,9366553,9303297,9282826,9275210,9261351,9110174,9020149,9008157,8876228,8692858,8659115,8631802,8619474,8552640,8551560,8529100,8105392,8041786,8041734,7892216,7859280,7831767,7745752,7604027,7585960,7494303,2064827,1631159,15037073,15731250,15142377,10523667,9102465,10951564,8707840,10473610,12861017,15342649,7754385,17353931,17981117,8052633,1985200,7559393,19118899,19066626,19001869,18707546,18238777,17928350,16698996,16439554,16344560,16298512,15489334,14702039,12740372,12610148,12504543,12477932,12414950,12368302,12048190,12011095,11927559,11904219,11824786,11389849,11278458,11152524,11060446,11035935,10964507,10888660,10888652,10860744,10772949,10748034,20406804,11682607,15231748,16713569,17643375,17938174,19596235,19615732,19889762,20705733 3836 NR_026698,NM_002264,AC083798,AC096861,CH471052,AA689229,AF035311,AI216375,AK125626,AK128280,AK299030,AK312713,AL700464,AL710311,BC002374,BC003009,BC029937,BC090864,BG287593,BT006959,CA433573,CR456743,CR620304,DA308391,DN991078,S75295,U20620 NP_002255,EAW79482,EAW79483,BAG54224,BAG54654,BAG61106,AAH02374,AAH03009,AAH90864,AAP35605,CAG33024,AAC60648,P52294,Q5BKZ2,ABM82332,ABM87821 Hs.161008 IPOA5|NPI-1|RCH2|SRP1 OTTHUMP00000215564|RAG cohort protein 2|SRP1-beta|importin alpha 5|importin subunit alpha-1|importin-alpha-S1|karyopherin subunit alpha-1|nucleoprotein interactor 1|recombination activating gene cohort 2 protein-coding 1344039 KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination [provided by RefSeq] 1580863 17070506,16964243,16818692,16752129,16565220,16552725,16380377,16188882,15795315,15731250,15635413,15489334,15383276,15342649,15234975,15194443,14743216,12933681,12909615,12883947,12881431,12631736,12551970,12504543,12504098,12477932,12477715,12414990,12414950,12368302,12176322,12062430,12011095,11988093,11904219,11882654,11840567,11796712,11790298,11735022,11581171,11389849,11310559,11278458,11152524,11114884,11035935,10980193,10964507,10930427,10888660,10888652,10860744,10801418,10772949,10748034,10525473,10497201,10366569,10359596,10353244,10228156,9918876,9817747,9786944,9603322,9593140,9582382,9562972,9557700,9548947,9463369,9436978,9366553,9323134,9303297,9282826,9275210,9261351,9008157,8955125,8876228,8659115,8631802,8617227,8617226,8552640,8551560,8529100,8105392,8041786,8041734,7859280,7745752,7604027,7585960,7494303,2064827,1631159,15037073,15142377,11283257,10523667,15351208,17170104,17081983,15579463,9891055,20362631,20859152,9020106,9497340,9168958,7565597,8016130,7754385,19117056,19103427,18561322,18068677,17899179,17596301,17551513,17537211,17344301,17255955,10869435,15870280,17148452,17643375,18162579,19883659,19950226,19961612,20393006,9275187,15942031 3838 NM_002266,AC134407,AJ303086,CH471099,AK024833,AK058111,AK291954,BC005978,BC013257,BC034443,BC053343,BC067848,BC146905,BT006665,CR595289,CR599710,CR605528,CR606537,CR607334,CR607794,U09559,U28386,AC145081 NP_002257,CAC83080,EAW89040,EAW89041,BAF84643,AAH05978,AAH53343,AAH67848,AAI46906,AAP35311,AAA65700,AAA69957,P52292,Q53YE3,Q6NVW7,Q7Z726,ABM92216,ABM84694 Hs.594238 IPOA1|QIP2|RCH1|SRP1alpha RAG cohort 1|RAG cohort protein 1|SRP1-alpha|importin alpha 1|importin alpha 2|importin subunit alpha-2|importin-alpha-P1|karyopherin subunit alpha-2|pendulin protein-coding 1322742 KPNA3 karyopherin alpha 3 (importin alpha 4) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq] 1580863 10366569,8105392,9435235,15057270,17353931,17981117,9154134,17081983,16713569,16644122,16344560,16189514,15882913,15635413,15489334,14759373,14743216,12740372,12477932,12414950,12368302,11904219,11389849,11278458,11035935,10964507,10888652,10860744,10744690,10525473,10100610,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9395085,9373149,9366553,9303297,9282826,9275210,9008157,8876228,8659115,8552640,8551560,8529100,8125298,8041786,8041734,7859280,7745752,7585960,7494303,2064827,1631159,15037073,10523667,17643375,19615732 3839 NM_002267,AL135901,AL136301,CH471075,AF005263,AF034756,AI309735,AK223480,AK290528,AK291000,AU132188,BC017355,BC024202,BC035090,D89618,DN991804,Y12394 NP_002258,CAI40716,CAI40722,CAH71145,EAX08837,EAX08838,EAX08839,AAQ13404,AAB87693,BAD97200,BAF83217,BAF83689,AAH17355,AAH24202,AAH35090,BAA20378,CAA73026,O00505,Q53F09,Q5JVN1,Q8IYQ9,ABM83570,ABM86808 Hs.527919 IPOA4|SRP1|SRP1gamma|SRP4|hSRP1 SRP1-gamma|importin alpha 4|importin alpha Q2|importin alpha-3|importin subunit alpha-3|importin-alpha-Q2|karyopherin subunit alpha-3|qip2 protein-coding 1322966 KPNA4 karyopherin alpha 4 (importin alpha 3) The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq] 1580863 19927155,20193720,17353931,17981117,9395085,17661348,17081983,16375861,15635413,15489334,14702039,12610148,12477932,12414950,12368302,11904219,11389849,11278458,11035935,10965137,10964507,10888652,10860744,10525473,10366569,10100610,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9366553,9303297,9282826,9275210,9168958,9008157,8876228,8659115,8552640,8551560,8529100,8105392,8041786,8041734,7859280,7745752,7585960,7494303,2064827,1631159,15037073,20554775,10523667,19710421,20936779 3840 NM_002268,AC078868,CH471052,AB002533,AK021602,AK129841,AK291041,BC007458,BC016754,BC028691,BC034493,CR597383,U93240,Y12393 NP_002259,EAW78631,EAW78632,EAW78633,BAA19546,BAF83730,AAH07458,AAH16754,AAH28691,AAH34493,AAC25605,CAA73025,O00629,Q96IJ5,Q96KW7,ABM81792,ABM84947 Hs.288193 IPOA3|MGC12217|MGC26703|QIP1|SRP3 importin alpha 3|importin alpha Q1|importin subunit alpha-4|importin-alpha-Q1|karyopherin subunit alpha-4 protein-coding 1343568 KPNA5 karyopherin alpha 5 (importin alpha 6) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq] 1580863 7494303,2064827,1631159,15037073,17207965,12740372,12610148,12477932,12414950,12368302,11904219,11389849,11278458,11035935,10964507,10888652,10860744,10525473,10366569,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9366553,9303297,9282826,9275210,9008157,8876228,8659115,8552640,8551560,8529100,8105392,8041786,8041734,7859280,7745752,7585960,7566098,15057270,17981117,9395085,16713569,20406804,16919237,17643375 3841 NM_002269,AL132795,AL354716,CH471051,AA332147,AF005361,AK314206,BC047409,BG721781 ADQ32456,NP_002260,CAI20500,CAI20501,CAI20502,EAW48216,AAC51868,BAG36882,AAH47409,O15131,Q5TD89,Q5TD90 Hs.182971 IPOA6|SRP6 OTTHUMP00000017076|importin alpha 6|importin subunit alpha-6|karyopherin subunit alpha-5 protein-coding 1315261 KPNA6 karyopherin alpha 6 (importin alpha 7) Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq] 1580863 10366569,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9366553,9303297,9282826,9275210,9008157,8955125,8876228,8659115,8552640,8551560,8529100,8105392,8041786,8041734,7859280,7745752,7585960,7494303,2064827,1631159,15037073,17353931,17981117,9395085,16713569,16344560,16298512,15489334,15342556,14743216,14702039,12477932,12414950,12368302,11904219,11751052,11389849,11278458,11035935,10964507,10888652,10860744,10822175,10525473,10523667,17643375,20936779 23633 NM_012316,AL049795,AL445248,CH471059,AF060543,AK000724,AK002111,AK128609,AK295615,AK301714,AK315490,AU142228,BC020520,BP374991,BT009843,CR592029 NP_036448,CAI22054,CAI22056,CAH71948,EAX07567,EAX07568,EAX07569,AAC15233,BAG58497,BAG63185,BAG37874,AAH20520,AAP88845,O60684,ABM82513,ABM85707 Hs.470588,Hs.711019 FLJ11249|IPOA7|KPNA7|MGC17918 OTTHUMP00000009075|importin alpha 7 subunit|importin subunit alpha-7|importin-alpha-S2|karyopherin subunit alpha-6 protein-coding 2306472 KPNA7 karyopherin alpha 7 (importin alpha 8) 20701745,12690205,20228798 402569 NM_001145715,AC073468,CH236956,AW193472,EU126604 NP_001139187,EAL23884,ABW96272,A9QM74 Hs.253050 importin subunit alpha-8|karyopherin 7|karyopherin subunit alpha-7 protein-coding 737037 KPNB1 karyopherin (importin) beta 1 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq] 1580863 17172643,14600264,17053781,18655775,19454010,19925438,20711181,13679510,12764225,12614157,12551970,12504010,12477932,12414950,12368302,12176322,12135354,12095920,12062430,12011095,11751052,11401507,11389849,11323423,11310559,11297531,11278458,11257130,11035935,10965137,10951564,10929717,10888652,10860744,10846168,10822175,10811646,10779340,10772949,10749866,10525473,10523667,10473610,10397761,10367892,10366569,10353244,10228156,10209022,10037787,9891056,9891055,9817747,9687515,9670026,9621063,9582382,9562972,9463369,9436978,9435235,9430704,9398662,9366553,9323134,9275210,9275187,9261175,9214382,9144189,7627554,11984006,7615630,1985200,7559393,9405152,19117056,18398821,18238777,18028944,17916694,17646395,17596301,17537211,16982803,16704975,16552725,16380377,15964792,15795315,15572412,15494309,15489334,15388255,15383276,15342649,15297880,15282309,15231748,15194443,15037768,14718574,9102465,9045717,8692944,8617227,8617226,8576188,8105392,1631159,16354571,11283257,11266456,10202161,15889150,15864302,8896452,9135132,15870280,16115628,17148452,17643375,17938174,18162579,19884259,20085707 3837 CS531808,NM_002265,AC015674,AC025682,CH471109,L39793,AK299145,AK301463,AK314780,AK316421,BC003572,BC024045,BC036703,BE046507,BT009797,L38951,L39924 CAM84939,NP_002256,EAW94807,EAW94808,EAW94809,EAW94810,AAA82869,BAH12957,BAH13488,BAG37316,BAH14792,AAH03572,AAH24045,AAH36703,AAP88799,AAC41763,Q14974,ABM83789,ABM87111 Hs.532793 IMB1|IPO1|IPOB|Impnb|MGC2155|MGC2156|MGC2157|NTF97 PTAC97|importin 1|importin 90|importin beta-1 subunit|importin subunit beta-1|importin-90|karyopherin subunit beta-1|nuclear factor p97|pore targeting complex 97 kDa subunit protein-coding 1353027 KPRP keratinocyte proline-rich protein 16710414,16297201 448834 NM_001025231,AL353779,AY960854 NP_001020402,CAI20978,AAX59055,Q5T749,AAI52832 Hs.149386 C1orf45 chromosome 1 open reading frame 45|hKPRP|keratinocyte expressed, proline-rich protein|keratinocyte proline-rich protein protein-coding 1321189 KPTN kaptin (actin binding protein) 1580863 10099934,17353931,1372044,16344560,15489334,14702039,12477932,11409409,9373149,8125298,12019562 11133 NM_007059,AC073548,AF243529,CH471126,AF105369,AK023996,AK225419,AK298672,BC009249,BG388698,CR590339,CR618331,CR619560,DA824599 NP_008990,AAF98790,EAW57487,AAD39358,BAG51248,BAG60838,AAH09249,Q9Y664 Hs.25441 2E4 actin-associated protein 2E4|kaptin|kaptin (actin-binding protein) protein-coding 1350859 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq] 2314907,2314910,2314911,2314912,2314913,2314914,2314909,2314838,628557,2306732,2314836,2314915,1581756,1581769,1600469,1581757,1581768,1600465,1600466,1600467,1600468,1600471,1600472,1600477,1600476,1600499,1581761,4143515 20371679,20421765,20627194,19419940,17712732,11857081,12732644,11520933,7972015,8493579,9069260,9690470,19640859,19639197,19629485,19628078,19603024,19603018,19596959,19584155,19584075,19571709,19571295,19561230,19551857,19549707,19546608,19543899,19533561,19527492,19515263,19490893,19487299,19478384,19473722,19430562,19420344,20616366,20725992,21031422,21129603,21129606,21129611,19874312,20583472,20592359,20495538,20734064,20810036,20819778,20824720,20840818,20842128,20845292,20848649,20855820,20860430,20880116,20881644,20884623,20935157,20937558,20939111,20947270,20949557,20955384,20959826,20972872,20978259,21048031,21051183,21055216,20979647,21072204,21074889,21080251,18836286,20617134,20630999,20699365,20532039,20619739,20628283,20682398,20683036,19020799,19018267,19013894,19013464,19002263,19001320,18957720,18946221,18946061,18945298,18932251,18922928,18843035,18834226,18833187,18832461,18804418,18794099,18794094,18794081,18782444,18776048,18757341,18728651,18701506,18692554,18677542,18676835,18676755,18676680,18669866,18669174,18663146,18641128,18626007,18621636,18614859,18594528,18592405,18592002,18577988,18559541,18549880,18544172,18509354,18500270,18490377,18435933,18432074,18431556,18418864,18418066,18418018,18392710,18386236,18383861,18355852,18343945,18334834,18316791,18303429,18299280,18289366,18268007,18265644,18224685,18221484,18211960,18208799,18202412,18199160,18172263,18075308,18049799,18038880,17998284,17974974,17960171,17943694,17910045,17904685,17875937,17873613,17805054,17729418,17714760,19418727,19398573,19396835,19390304,19380522,19378369,19372139,19369630,19367287,19366826,19362747,19360305,19358724,19358278,19351817,19349489,19344998,19339720,19326463,19309232,19303097,19302287,19295453,19289622,19289583,19284554,19282454,19281127,19273710,19270646,19270482,19247083,19240718,19238633,19238210,19237633,19234440,19228630,19208745,19206169,19196673,19190631,19190129,19190079,19172191,19164452,19164213,19147861,19146951,19144677,19142971,19141999,19137007,19133693,19124802,19121089,19107910,19103203,19101897,19096302,19096301,19087308,19064568,19057271,19056857,19047918,19179548,19047118,19026650,17285540,17270239,17227126,17210246,17198183,17192902,17192038,17184525,17172815,17170014,17149612,17133351,17130841,17071580,17060486,17056636,16988471,16973828,16969076,16953233,16937524,16923573,16918136,16905440,16896030,16889753,16879389,16818665,16808798,16774937,16773572,16765042,16761621,16760301,16756473,10882715,15824172,15815931,15741570,15734482,15608639,15608367,15548565,15534934,15531466,15528212,15523694,15514939,15489648,15489334,15367885,15262995,15221969,15213223,15112354,15112277,15077125,15040037,15037631,15010862,14989985,14966563,14961576,14761400,14724583,14688017,14654903,14612290,14601056,14534542,14520703,14513361,14511407,14508142,12972432,12908779,12882980,12871370,12826308,12824925,12766905,15846069,12727204,12720172,12651912,16687659,16672071,16618717,16575407,16573741,16552337,16534842,16533793,16533526,16520020,16482519,16474405,16474404,16458330,16456810,16448675,16397024,16373972,16356174,16354586,16331576,16257181,16219426,16189514,16169155,16158056,16144912,16142319,16142311,16139926,16112461,16110022,16098678,16091732,16077965,16043828,16015387,15994075,15991278,15958551,15943410,15923430,15923428,12644542,12606951,12606501,12592366,12557259,12477932,12452332,12374986,12372883,12211074,12135058,12093899,12085227,12082617,12034322,12032847,12006650,11948427,11836595,11822784,11746970,11745690,11745231,11668624,11585916,11524732,11278702,11016621,10918068,10783161,10542052,10490827,10398103,9674433,9446616,9180144,8955068,8439212,7916576,7908857,7809086,7773929,16721785,6866079,6695174,6328282,6320174,6308467,6308466,6308465,6298638,6098458,6096811,6092920,3932274,3895297,3856955,3855240,3627975,3476115,3330777,3310850,3276554,3047672,3034404,2453289,2015559,1850383,1553789,9344703,9269777,17710156,17707462,17704924,17704260,17697521,17671710,17663506,17659731,17638924,17636402,17632319,17629419,17607370,17601930,17596643,17592266,17591931,17580276,17575320,17575133,17568059,17554370,17551339,17549340,17534846,17504988,17487504,17487277,17471559,17465446,17459062,17449174,17440063,17436386,17409930,17393356,17366577,17360030,17354229,17352027,17332339,17332249,17324647,17321325,17320764,20610624,20681447,20473902,20559149,20559151,20563851,20571907,20578946,20580219,20583607,20591910,20603437,20630828,20631636,20645028,20646601,20647319,20652941,20661086,20676756,20678218,20686428,20688547,20696815,20702788,20703476,20712532,20736745,20802181,20813562,10712923,15451670,16737746,19162366,19170196,19282104,19307945,19376842,19440799,19474002,19521964,19545448,19549774,19574674,19583261,19625176,19637313,19651236,19661383,19667264,19669908,19671843,19672255,19672874,19678923,19679059,19679400,19681119,19681124,19686742,19692168,19704056,19723643,19724844,19727729,19727962,19734844,19738126,19738388,19740513,19745602,19762526,19765726,19787214,19789336,19797353,19801192,19813061,19815694,19824059,19826477,19833857,19839777,19843849,19847166,19853286,19854533,19854534,19855375,19862647,19865112,19881551,19881948,19884549,19884551,19884556,19888477,19893451,19903786,19908233,19913317,19921572,19934290,19935791,19936766,19936839,19952717,19956635,19960433,19995707,20008640,20010090,20018398,20020061,20022659,20023269,20035238,20038723,20049644,20056178,20068568,20086114,20087229,20098682,20100685,20100958,20100964,20101149,20118768,20137853,20145159,20147298,20150643,20150826,20159991,20162668,20177422,20183914,20184776,20186026,20233436,20234366,20237506,20302979,20303012,20305537,20307197,20309588,20336783,20350743,20361930,20372787,20381121,20383576,20385028,20395213,20398393,20413299,20418097,20432164,20444249,20453000,20459770,20501503,20512148,20526288,20530271,20542658,9069267,9297626,20124452,20675343,20959479,20959488,20012784,20565773,20575464,19702696,20570890,20652953,21073737,20117855,20624322,20673328,20972333,21036740,21036746,20482381,20682656 2314907,2314910,2314911,2314912,2314913,2314914,2314909,2314838,628557,2306732,2314836,2314915,1581756,1581769,1600469,1581757,1581768,1600465,1600466,1600467,1600468,1600471,1600472,1600477,1600476,1600499,1581761,4143515 3845 NM_004985,NM_033360,NG_007524,AC087239,AC092794,AF285779,CH471094,K03210,L00044,L00045,L00048,L00049,M26261,M34904,S64261,X01228,X01669,X02825,AA812162,AF493917,AI539465,AK292510,BC010502,BC029545,BG258021,BT007153,CR625034,M17087,M35504,M35505,M54968,BC013572,HC464412,HC464568,HD032929,EU332849 NP_004976,NP_203524,AAF91482,EAW96511,EAW96512,EAW96513,EAW96514,AAA36554,AAB59444,AAB59445,AAA36148,AAA36149,AAD13953,CAA25828,CAA26593,AAM12631,BAF85199,AAH13572,AAP35817,AAA36555,AAA35689,AAA35690,AAB41942,P01116,Q14014,Q14015,Q15285,Q71SP6,Q7KZ06,Q92668,ABM81575,ABM84755,CBK51852,CBK51925,CBV35640,ABY87538 Hs.505033 C-K-RAS|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|KI-RAS|KRAS1|KRAS2|NS|NS3|RASK2 GTPase KRas|K-Ras 2|K-ras p21 protein|Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog|PR310 c-K-ras oncogene|c-Ki-ras|c-Kirsten-ras protein|cellular c-Ki-ras2 proto-oncogene|oncogene KRAS2|transforming protein p21|v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog protein-coding 1345392 KRAS1P v-Ki-ras1 Kirsten rat sarcoma 1 viral oncogene homolog, processed pseudogene 6672765,6308466,2894641 3844 NG_001154,AL356782,AL512363,K01912 KRAS1P|c-Kras1 pseudo 1603293 KRBA1 KRAB-A domain containing 1 12477932,11347906 84626 NM_032534,AACC02000041,AC004897,CH471146,AB058765,AL831935,BC033229,BC041587,BC142722,BC146667,BC150330,BC152409,BU557058 NP_115923,EAL24434,EAW80035,EAW80036,EAW80037,BAB47491,AAH33229,AAH41587,AAI42723,AAI46668,AAI50331,AAI52410,A5PL33 Hs.299560 KIAA1862|MGC176633 KRAB A domain containing 1|OTTHUMP00000221104|OTTHUMP00000221105|protein KRBA1 protein-coding 1603590 KRBA2 KRAB-A domain containing 2 12477932 124751 NM_213597,AC135178,AK131219,BC024723,BC033390 NP_998762,BAD18406,AAH33390,Q6ZNG9,AAI46331,AAI48757 Hs.304604 KRAB A domain containing 2|KRAB-A domain-containing protein 2 protein-coding 1605393 KRCC1 lysine-rich coiled-coil 1 12477932,19414484,17207965 51315 NM_016618,AC108479,CH471215,AF208845,AF217520,AK025986,BC015927,BC107580,CR604678,CR625257,EF413023 NP_057702,AAY24007,EAW77081,EAW77082,AAF64259,AAF67631,AAH15927,AAI07581,ABN71577,Q9NPI7,ADQ31871 Hs.469254 CHBP2|FLJ22333 cryptogenic hepatitis binding protein|cryptogenic hepatitis-binding protein 2|lysine-rich coiled-coil protein 1 protein-coding 733267 KREMEN1 kringle containing transmembrane protein 1 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq] 633127,2301921,1580863 11267660,18538647,18502762,15489334,15146197,14702039,12477932,12050670,10737800,10591208,19453261,20935629,20634891,20153141,20379614,20846389,17804805 633127,2301921 83999 CH471095,Z95116,AB059618,AI085656,AK056425,AK172861,AL533967,BC063787,BE706705,BG743250,BX433015,BX451207,CB266010,CN310838,NM_032045,NM_001039570,AL021393 CAQ07690,EAW59773,EAW59774,EAW59775,CAM25375,CAQ08609,CAQ08610,BAB40969,BAB71180,CAQ07689,BAD18817,AAH63787,Q96MU8,NP_114434,NP_001034659,CAM25378 Hs.229335 FLJ31863|KREMEN|KRM1 OTTHUMP00000198939|dickkopf receptor|kremen protein 1|kringle domain-containing transmembrane protein 1|kringle-coding gene marking the eye and the nose|kringle-containing protein marking the eye and the nose protein-coding 1321902 KREMEN2 kringle containing transmembrane protein 2 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq] 2301921,1580863 9373149,8125298,16303743,15489334,14702039,12477932,12050670,20846389 2301921 79412 NM_172229,NM_024507,AC004235,CH471112,AB086355,AB086356,AB086357,AB086405,AK027669,AK075033,AK223422,AK301953,BC003533,BC009383,CR601297,CR611298 NP_757384,NP_078783,EAW85445,EAW85446,EAW85447,EAW85448,EAW85449,BAC00823,BAC00824,BAC00825,BAC00872,BAB55281,BAC11365,BAD97142,BAG63368,AAH03533,AAH09383,Q53F67,Q8NCW0,ABM87446 Hs.661128 KRM2|MGC10791|MGC16709 dickkopf receptor 2|kremen protein 2|kringle domain-containing transmembrane protein 2|kringle-containing protein marking the eye and the nose protein-coding 1607005 KRI1 KRI1 homolog (S. cerevisiae) This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq] 16344560,14702039,12878157,12477932,8889548,19240061,16169070,19615732 65095 NM_023008,AC011461,AC011475,CH471106,AK023011,AK025907,AK093879,AK097181,AK300780,AK300850,AL833189,AU280109,BC002890,BC009303,BC009876,BC112249,BC112251,BC143770,BM676050,DA438802 NP_075384,EAW84120,EAW84121,BAB14357,BAB15278,BAC04240,BAG62444,BAG62501,AAH02890,AAH09876,AAI12250,AAI12252,AAI43771,Q8N9T8,AAI66660 Hs.709967 FLJ12949 protein KRI1 homolog protein-coding 1314251 KRIT1 KRIT1, ankyrin repeat containing 1358458,1598379,1580863 17657516,19182478,19453802,19454328,19833796,20308363,20379614,16037064,9285558,19199464,19092252,19088124,19088123,18812969,18300272,17954608,17562932,17440989,17290187,17148043,17043900,16769843,16712798,16529293,16373645,16321204,16239636,15718512,15489334,15079030,15046662,14702039,12877753,12853948,12810002,12690205,12682320,12477932,12204286,12172908,12140362,11941540,11914398,11854171,11831930,11741838,11342228,11161805,11161791,10814716,10545614,10508515,8530042,7604043,12911633,20798775,20306072,20689144 1358458,1598379 889 NG_012964,NM_194456,NM_194455,NM_001013406,NM_194454,NM_004912,AC000120,AY993945,CH236949,CH471091,U90269,AF296765,AF310133,AF388384,AJ294850,AK055305,AK056537,AK226131,AL049325,AY380057,AY380058,AY380059,AY380060,AY993944,BC094684,BQ070587,BX648659,U90268 NP_919438,NP_919437,NP_001013424,NP_919436,NP_004903,AAS07420,AAY25568,EAL24152,EAW76854,EAW76855,AAC01535,AAG10220,AAG47774,AAM19465,CAC17608,BAG51497,BAG51741,AAQ94072,AAQ94073,AAQ94074,AAQ94075,AAY25567,AAH94684,AAB58582,O00522 Hs.531987 CAM|CCM1 ankyrin repeat-containing protein Krit1|cerebral cavernous malformations 1|cerebral cavernous malformations 1 protein|krev interaction trapped 1|krev interaction trapped protein 1 protein-coding 1351218 KRN1L keratin, cuticle, ultrahigh sulphur 1-like 3847 1314657 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 19913121,20628086,15590835,17081983,16341674,16189514,15635413,15489334,14702039,12887920,12477932,12429849,11790298,11359931,11027267,8675026,7505766,15832179,19615732 11103 AK313687,BC005225,BC014034,BC016778,BC026107,BC033887,BM839950,CR593218,CR604914,EF010919,U55766,NM_007043,AC022507,AC121761,CH471054,AK022133,AK297602 BAG36436,AAH05225,AAH16778,AAH26107,AAH33887,ABJ97679,AAB00557,A0FIK6,Q13601,ABM84478,ABM84479,ABM84480,ABM87514,NP_008974,EAW97309,BAG59987 Hs.645517 HRB2|RIP-1 HIV-1 Rev binding protein 2|HIV-1 Rev-binding protein 2|KRR1 small subunit processome component homolog|Rev interacting protein|hiv-1 rev binding protein 2|rev-interacting protein 1 protein-coding 1346930 KRT1 keratin 1 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq] 1600166,1580863 1284546,1281859,14499622,11204562,10942575,10903910,10844506,10688370,10597140,10232403,10066772,10053007,9856846,9520414,9261168,8999895,8780679,7687781,7536183,7528239,7512983,7507152,7507151,2581964,2580302,2470667,2461420,2450142,1602151,11290596,1380725,11549596,1381288,19515043,18795921,18637039,16831889,16789827,16565220,16417221,16361731,16344560,15797458,15489334,15324660,12665801,12648226,12603866,12477932,12406348,12406346,12064938,11982762,11897493,11841545,11591653,11531804,11286630,11286616,17373842,17668073,19470048,19494018,20500210 1600166 3848 HI573920,NM_006121,NG_008364,AC055716,AF237621,AF304164,CH471054,M98776,X69725,X69758,AK313986,BC063697,DB112126,M10938 CBX47449,NP_006112,AAF60327,AAG41947,EAW96642,AAB47721,BAG36698,AAH63697,AAA36153,P04264 Hs.80828 CK1|EHK|EHK1|EPPK|K1|KRT1A|NEPPK 67 kDa cytokeratin|CK-1|cytokeratin 1|cytokeratin-1|epidermolytic hyperkeratosis 1|hair alpha protein|keratin, type II cytoskeletal 1|type-II keratin Kb1 protein-coding 1354394 KRT10 keratin 10 This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq] 1600168,1580863 17373842,2459124,1380725,19515043,18637039,18559605,18259765,18219278,17562024,17542994,16888010,16831889,16505000,15952740,15527767,15489334,15254692,14705805,12566451,12477932,12429849,12427098,12234709,11585925,10542138,10201536,10098704,9856845,9036939,8999895,7526210,7513736,7512983,7509230,7508181,7507152,2464696,2461420,2448602,2182100,1602151,1381287,7507150,7504553,2465278,1378806,1371013,1286667,14645504,20798280,19443303,19474805,19776502,19904223 1600168 3858 NM_000421,NG_008405,AC090283,CH471152,L20218,L20219,X14487,BC034697,CR625014,CU455823,J04029,M19156,M77663 NP_000412,EAW60680,EAW60681,AAB59438,AAB59439,CAA32649,AAH34697,AAA60544,AAA59468,AAA59199,P13645,ABM84282,ABM87674 Hs.99936 BCIE|BIE|CK10|EHK|K10|KPP CK-10|cytokeratin 10|keratin, type I cytoskeletal 10|keratin-10 protein-coding 1312464 KRT12 keratin 12 KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq] 1580863,1600169 9171831,18661274,18245975,17653038,16831889,16352477,16227835,15148206,12665801,12543196,10781519,10644419,9399908,8759347,20577595 1600169 3859 NM_000223,NG_008077,AB007119,AC004231,AF137286,CH471152,AK313747,CV573989,D78367 NP_000214,BAA25063,AAF61432,EAW60685,BAG36487,BAA11376,Q99456,AAI56642 Hs.66739 K12 CK-12|cytokeratin-12|keratin, type I cytoskeletal 12|keratin-12 protein-coding 1348943 KRT121P keratin 121 pseudogene 16831889,10692104 85349 NG_000944,AC021066,Y19216 HBD|KRTHBP4 keratin, hair, basic, pseudogene 4 pseudo 1351826 KRT122P keratin 122 pseudogene 16831889,10692104 85348 NG_000943,AC021066,Y19215 HBC|KRTHBP3 keratin, hair, basic, pseudogene 3 pseudo 1345423 KRT123P keratin 123 pseudogene 16831889,10692104 85344 NG_000940,AC078865,AC121757,Y19214,NG_024086 HBB|KRTHBP2 keratin, hair, basic, pseudogene 2 pseudo 1347780 KRT124P keratin 124 pseudogene 16831889,10692104 85340 NG_000938,AC055736,Y19213,NG_024012 HBA|KRTHBP1 keratin, hair, basic, pseudogene 1 pseudo 1606053 KRT126P keratin 126 pseudogene 16831889,15085952 643865 NG_005685,AC055716,BK003989 KRT pseudo 1349257 KRT13 keratin 13 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq] 1304472,1580863 1385306,7493031,18951949,17081983,16949723,16831889,15489334,14702039,14600690,12477932,11906920,11591653,11379896,10722565,10561721,9714826,9373149,9284906,8125298,6205395,2483837,2477803,2475110,2472374,1385351,16836912,19776502,20936779 1304472 3860 NM_002274,NM_153490,NG_008406,AC019349,AF049259,CH471152,AK092276,AK223051,AK223077,AK290244,AK296806,AK309752,BC002661,BC077718,BC126184,BC136494,CR591347,DR422220,X14640,X52426 NP_002265,NP_705694,AAC35754,EAW60740,EAW60741,BAC03847,BAD96771,BAD96797,BAF82933,BAG59379,AAH02661,AAH77718,AAI26185,AAI36495,CAA32786,CAA36673,P13646,ABM81578,ABM84758,ADR83174 Hs.654550 CK13|K13|MGC161462|MGC3781 CK-13|cytokeratin 13|cytokeratin-13|keratin, type I cytoskeletal 13|keratin-13 protein-coding 1316671 KRT14 keratin 14 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq] 1600173,1600174,1600175,1580863 20936779,16960809,11684708,7525408,11724817,7679677,19651890,19515043,19461998,19190970,19032382,18723014,18717745,18701433,18505935,18364388,18049449,18005116,17891046,17659012,17373842,17159913,17039244,10583131,9989794,9804357,9804355,9457912,9284105,8875963,8636216,8601736,7688405,7682883,7561171,7526933,7526926,7506606,7506097,6210150,6186381,2580298,2451124,2442174,1720261,1717157,1713141,10730767,16831889,16786515,16344560,16098032,15731013,15654986,15489334,14987259,14660619,12930305,12802069,12707098,12655565,12603865,12477932,12230514,12165543,11973334,11710919,10971341,10852826,10820403,10733662,16882168,20151404,20030639,20634891,15731016,16757171,18029348,19616543,19776502,19797037,19847192,19854623,20060687,20147963 1600173,1600174,1600175 3861 NM_000526,NG_008624,AC019349,AF186085,AF186086,AF186087,AF186088,AF186089,AF186090,CH471152,J00124,U11076,BC002690,BC019097,BC042437,BC094830,BT007186,CR598848,CR603127,CR613487,CR613905,CR618580,CR623868,CR624973,CR626072,DB018715,M28646 NP_000517,AAF04034,AAF04035,AAF04036,AAF04037,AAF04038,AAF04039,EAW60745,EAW60746,EAW60747,EAW60748,AAB59562,AAH02690,AAH19097,AAH42437,AAH94830,AAP35850,AAA96689,P02533,Q13092,ABM81659,ABM83923,ABM84831 Hs.654380 CK14|EBS3|EBS4|K14|NFJ CK-14|cytokeratin 14|cytokeratin-14|keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)|keratin, type I cytoskeletal 14|keratin-14 protein-coding 1342709 KRT14L1 keratin 14-like 1 (20kb) 1694815 3863 1353533 KRT14L2 keratin 14-like 2 (10kb) 1694815 3864 1350748 KRT14L3 keratin 14-like 3 (6.6kb) 1694815 3865 1354100 KRT14P keratin 14 pseudogene 729252 NG_007001,AL353997,AK301679 BAG63152 Hs.585811 FLJ56791|KRT14P|KRT16P pseudo 1342638 KRT15 keratin 15 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq] 1580863 16189514,2580298,2452170,19383306,19162247,18789069,16831889,15489334,15060141,14702039,12477932,10623642,10623468,10084315,6186381,2468493,2466616,2424675,1702379,20936779,20050020 3866 NM_002275,NG_012284,AC019349,AF202320,CH471152,AK090604,AK091239,AK122864,AK304059,AL832226,BC002641,BC110649,BT007261,X07696 NP_002266,AAF27047,EAW60742,BAG52193,BAG52314,BAG53767,BAG64966,AAH02641,AAP35925,CAA30535,P19012,ABM83916,ABM87237 Hs.654570 CK15|K15|K1CO CK-15|OTTHUMP00000165060|cytokeratin 15|cytokeratin-15|keratin, type I cytoskeletal 15|keratin-15, basic|keratin-15, beta|type I cytoskeletal 15 protein-coding 1343206 KRT15L keratin 15-like 3867 1345926 KRT16 keratin 16 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq] 1600184,1580863 17623675,16831889,15731018,15489334,15239676,12954631,12477932,11886499,11840567,11359398,10844556,10839714,10606845,10521820,8636216,7509163,7487986,2431270,1286667,20722389,15731013,2451124,8595410,7539673,19515043,18557933,18496701,18489596,18005116,17719747,19785597,20403371,16341674,19759913 1600184 3868 NM_005557,NG_008301,AC130686,AF061809,CH471152,M28432,M28433,M28434,M28435,M28436,M28437,M28438,M28439,S78514,AF061812,AK290853,BC039169,BM786499,CR600543,DC394235,S72493,S79867 NP_005548,AAD15829,EAW60749,AAA59460,AAB34564,AAC99326,BAF83542,AAH39169,AAB30058,AAB35421,P08779,Q16195,ABM82233,ABM87817 Hs.655160 CK16|FNEPPK|K16|K1CP|KRT16A|NEPPK CK-16|cytokeratin 16|cytokeratin-16|focal non-epidermolytic palmoplantar keratoderma|keratin, type I cytoskeletal 16|keratin-16 protein-coding 1350330 KRT16L1 keratin 16-like 1 (16kb) 2451124,1694815 3869 1352785 KRT16L2 keratin 16-like 2 (11kb) 1694815 3870 1343343 KRT16P1 keratin 16 pseudogene 1 1281771 3871 3255328 KRT16P2 keratin 16 pseudogene 2 400578 AK304304,AC022596,NR_029392 BAG65157 Hs.723586 FLJ53570 pseudo 3378630 KRT16P3 keratin 16 pseudogene 3 12477932,16344560 644945 AC015818,BC110641,DB013784,NR_029393,NG_026155 Hs.572477 MGC102966 pseudo 2838287 KRT16P4 keratin 16 pseudogene 4 11997339 339244 AL353997,NG_002779 pseudo 2859651 KRT16P5 keratin 16 pseudogene 5 11997339 353196 AC015818,NG_002782 pseudo 1353171 KRT17 keratin 17 This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq] 1600184,1580863 19882246,16189514,1281771,7539673,18029348,19366057,18547302,17786476,17719747,17388661,16964243,16831889,16638858,15795121,15489334,15342556,15102078,14761598,14702039,12577067,12477932,12466114,12429849,11886499,11874497,11591653,11348474,10571744,10341211,9786956,9767294,9008238,7577575,7529318,7523421,1690428,1372562,9630597,18936942,19102940,19107515,19470054,19558792,19615732,19701759,20936779 1600184 3872 CR598766,CR599390,CR599780,CR600963,CR603789,CR605895,CR608685,CR608860,CR612161,CR615020,CR618671,CR621301,CR621616,CR622158,X05803,X62571,NG_008625,AC130686,CH471152,S78515,Z19574,AK095342,BC000159,BC011901,BC056421,BC072018,BC072019,BP226061,BX647923,CR595280,CR598735,NM_000422,AK304373 CAA29248,CAA44451,Q04695,Q14666,ABM82027,ABM85209,NP_000413,EAW60750,EAW60751,EAW60752,EAW60753,AAB34565,CAA79626,BAC04534,AAH00159,AAH11901,AAH56421,AAH72018,AAH72019,BAG65211 Hs.2785 K17|PC|PC2|PCHC1 39.1|CK-17|cytokeratin-17|keratin, type I cytoskeletal 17|keratin-17 protein-coding 1353793 KRT17P1 keratin 17 pseudogene 1 1281771 3873 1352458 KRT17P2 keratin 17 pseudogene 2 11997339,1281771 339241 NG_002778,AL353997 pseudo 2292114 KRT17P3 keratin 17 pseudogene 3 729682 NG_009683,AC011840 pseudo 735767 KRT18 keratin 18 KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863,1624318 11923318,11917136,11788583,11581269,11356849,11278913,11162351,10891503,10852826,10809736,10747083,10625605,10444072,10022517,9786957,9630597,9560222,9524113,9409741,9373149,9367879,9353322,9298992,9150948,9011570,8522590,8125298,7541767,7538124,7536183,7529764,7523419,2469635,2454862,2454392,2434381,2422083,1705144,1699878,1693358,1374067,12707304,276901,20398190,10954706,11684708,15529338,2434380,18000879,16424149,19419951,19407366,19378390,19302716,19087356,19032382,18941637,18712172,18705345,18577580,18460214,18432282,18349119,18038249,17954264,17891046,17617404,17545523,17542994,17353931,17034788,16892178,16831889,16189514,16143128,16046547,15987600,15952740,15838910,15831101,15822942,15731014,15731013,15489334,15368451,15339273,15316390,15314064,15194421,15102669,14648556,14556659,12724528,12717381,12577067,12477932,12473120,12429849,12388748,12235123,12191991,11955647,20374042,20634891,20659422,14968112,15493875,16836912,18029348,19246484,19249390,19357195,19447876,19529960,19585610,19615732,19639183,19727975,19755983,19770641,19891019,19927353,20035625,20109457,20334631,20538000,20936779,19615282,20372788,20729549 1624318 3875 NM_199187,NM_000224,NG_008351,AC107016,AF179904,CH471054,HC921479,HD063881,CR622676,CR623435,CR623563,CR625199,CR625896,L32537,X12876,X12881,X12883,CR622674,AK129587,AK223093,AK308506,AK313988,AY762101,BC000180,BC000698,BC004253,BC008636,BC009754,BC020982,BC072017,BG753529,BT019412,CD106591,CR594446,CR595810,CR596888,CR597901,CR598014,CR599586,CR600203,CR600648,CR601746,CR603302,CR603470,CR603763,CR603859,CR604760,CR604789,CR605941,CR606789,CR609248,CR609809,CR609857,CR610278,CR610685,CR610807,CR611058,CR613989,CR616576,CR616919,CR619082,CR619165,CR620895,CR621642,CR622312 NP_954657,NP_000215,AAA59461,EAW96655,CBU30436,CBU83085,AAA73889,CAA31369,CAA31375,CAA31377,P05783,Q15899,ABM92172,ABM84641,BAD96813,BAG36700,AAX07828,AAH00180,AAH00698,AAH04253,AAH08636,AAH09754,AAH20982,AAH72017,AAV38219,EAW96656 Hs.406013 CYK18|K18 CK-18|cell proliferation-inducing gene 46 protein|cell proliferation-inducing protein 46|cytokeratin 18|cytokeratin-18|keratin, type I cytoskeletal 18|keratin-18 protein-coding 1349327 KRT18P1 keratin 18 pseudogene 1 8824804 3879 NG_001024,AL662791,AL662865,AL929561,Z84476,BX248109,BX927167 dJ25J6.3 pseudo 1346138 KRT18P10 keratin 18 pseudogene 10 12815422,9847074 360019 NG_002937,AC012667 pseudo 1351883 KRT18P11 keratin 18 pseudogene 11 12477932 3876 NG_005219,AL121869 KRT18L1 pseudo 1603421 KRT18P12 keratin 18 pseudogene 12 643471 NG_009710,AL445305 pseudo 1346728 KRT18P13 keratin 18 pseudogene 13 392371 NG_008362,AL445531 KRT18L3 pseudo 1349462 KRT18P14 keratin 18 pseudogene 14 119722 NG_007002,AC090692 KRT18L4 pseudo 1642764 KRT18P15 keratin 18 pseudogene 15 729211 NG_006999,AC097639 KRT18L5 pseudo 1605494 KRT18P16 keratin 18 pseudogene 16 19578876 391827 NG_009714,AC008541 pseudo 1606103 KRT18P17 keratin 18 pseudogene 17 344866 NG_009663,AC034198 pseudo 1605806 KRT18P18 keratin 18 pseudogene 18 342374 NG_009691,AC004943 pseudo 1605810 KRT18P19 keratin 18 pseudogene 19 339781 NG_009679,AC118063 pseudo 1346679 KRT18P2 keratin 18 pseudogene 2 10830953 54044 NG_000918,AP001254,AP001679 pseudo 1606743 KRT18P20 keratin 18 pseudogene 20 121054 NG_009737,AC090051 pseudo 1604238 KRT18P21 keratin 18 pseudogene 21 132391 NG_009667,AC093657 pseudo 1606354 KRT18P22 keratin 18 pseudogene 22 442252 NG_021116,Z84488 pseudo 1606351 KRT18P23 keratin 18 pseudogene 23 642448 NG_009711,AL022317,AL022333 pseudo 1603853 KRT18P24 keratin 18 pseudogene 24 340460 AL359642,NG_009744 pseudo 1606084 KRT18P25 keratin 18 pseudogene 25 391647 NG_009739,AC098591 pseudo 1606042 KRT18P26 keratin 18 pseudogene 26 729634 XR_039730,XR_016032 pseudo 1605789 KRT18P27 keratin 27 pseudogene 27 390418 NG_009656,AL354915 pseudo 1606653 KRT18P28 keratin 18 pseudogene 28 343326 NG_009661,AL450304 pseudo 1604118 KRT18P29 keratin 18 pseudogene 29 729050 AC009962,NG_009484 pseudo 1342636 KRT18P3 keratin 18 pseudogene 3 170527 NG_001043,AL158175 bA359G22.1 pseudo 1606054 KRT18P30 keratin 18 pseudogene 30 643858 NG_009655,AL122016 pseudo 1605142 KRT18P31 keratin 18 pseudogene 31 646723 NG_007924,AC026741 pseudo 1603817 KRT18P32 keratin 18 pseudogene 32 391179 NG_009477,AL359551 FLJ33910 pseudo 1604126 KRT18P33 keratin 18 pseudogene 33 647162 NG_008761,AC007389,AC007741 pseudo 1606375 KRT18P34 keratin 18 pseudogene 34 391589 NG_009722,AC104411 pseudo 1606376 KRT18P35 keratin 18 pseudogene 35 391584 NG_009721,AC010184 pseudo 1605770 KRT18P36 keratin 18 pseudogene 36 442406 NG_006016,AL590726 pseudo 1604431 KRT18P37 keratin 18 pseudogene 37 392214 NG_009658,AC009630 pseudo 1605774 KRT18P38 keratin 18 pseudogene 38 441133 NG_009671,AL022068 pseudo 1603490 KRT18P39 keratin 18 pseudogene 39 344462 NG_008329,AC010138,AC125238 pseudo 1351868 KRT18P4 keratin 18 pseudogene 4 391256 NG_001044,AL031685 dJ963K23.1 pseudo 1604437 KRT18P40 keratin 18 pseudogene 40 390904 NG_008363,AC008739,CR614289 Hs.611474 pseudo 1604472 KRT18P41 keratin 18 pseudogene 41 345430 NG_009684,AC008660 pseudo 1605495 KRT18P42 keratin 18 pseudogene 42 19578876 391819 NG_009708,AC114287 pseudo 1604228 KRT18P43 keratin 18 pseudogene 43 151825 NG_009654,AC008040 pseudo 1605288 KRT18P44 keratin 18 pseudogene 44 139748 NG_008310,AL031903,CH471107 EAX11838 pseudo 1605496 KRT18P45 keratin 18 pseudogene 45 391803 NG_009703,AC026410 pseudo 1606643 KRT18P46 keratin 18 pseudogene 46 391458 NG_009012,AC062022,CH471058 EAX11366 pseudo 1605192 KRT18P47 keratin 18 pseudogene 47 390634 NG_009743,AC067805 pseudo 1603493 KRT18P48 keratin 18 pseudogene 48 340598 NG_006017,AF274858 pseudo 1603466 KRT18P49 keratin 18 pseudogene 49 392516 NG_008327,AL035088 pseudo 1345001 KRT18P5 keratin 18 pseudogene 5 728300 NG_007006,AC007731 pseudo 1606356 KRT18P50 keratin 18 pseudogene 50 442236 NG_008361,AL034348,CH471051 EAW48513 pseudo 1605788 KRT18P51 keratin 18 pseudogene 51 9847074 391703 AC106871,NG_007562 pseudo 4109154 KRT18P52 keratin 18 pseudogene 52 100418769 AL121652,NG_021498 pseudo 4890232 KRT18P54 keratin 18 pseudogene 54 100418792 AC108867,NG_025165 pseudo 1354362 KRT18P6 keratin 18 pseudogene 6 122592 NG_007005,AL160231 pseudo 1350297 KRT18P7 keratin 18 pseudogene 7 338019 1346931 KRT18P8 keratin 18 pseudogene 8 125242 NG_006995,AP000902 pseudo 1343332 KRT18P9 keratin 18 pseudogene 9 442205 NG_006996,AL354740 bA513I15.2 pseudo 733914 KRT19 keratin 19 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 1580863 16000376,2448790,10037815,19157505,19032382,20920982,20398190,18941637,18833815,18705345,18602664,18571761,18559605,18451221,18409152,18329483,18308654,18095993,18080980,18059224,17955299,17851895,17728499,17697728,17652531,17558891,17509943,17492378,17450257,17071045,16965897,16892178,16879391,16831889,16804977,16736556,16681689,16627685,16344560,16189514,16083285,15952740,15870932,15825149,15737616,15716612,15489334,15342556,14761598,14593079,14556657,12820323,12697249,12477932,11682035,10859317,10809736,10623642,10444072,10212274,9505886,9284906,8661035,7534649,2469734,2468493,2458477,2447559,2428612,1286667,18394347,18577250,18646695,19265690,19383302,19549321,19574886,19585610,19615732,19623181,19776502,19849844,19863186,19926583,20050020,20146580,20350214,20204403,16324274,20198455,20586026,20586028,20936779 3880 BG490639,BG750971,BP328445,DA068330,Y00503,BC084574,HC921481,HD063883,NM_002276,NG_012285,AC019349,AF202321,CH471152,J03607,AB041267,AB041268,AK313261,BC002539,BC007628,BC010409,BC067744 AAH84574,CAA68556,P08727,ABM83105,ABM86299,CBU30437,CBU83086,NP_002267,AAF27048,EAW60743,AAA36044,BAA94607,BAA94608,BAG36071,AAH02539,AAH07628,AAH10409,AAH67744 Hs.654568 CK19|K19|K1CS|MGC15366 40-kDa keratin intermediate filament|CK-19|cytokeratin 19|cytokeratin-19|keratin, type I cytoskeletal 19|keratin, type I, 40-kd|keratin-19 protein-coding 1605772 KRT19P1 keratin 19 pseudogene 1 441160 NG_009680,AL354933 pseudo 1605853 KRT19P2 keratin 19 pseudogene 2 160313 AC117494,U85961,AB041269,AB041270,NR_036685 BAA94609,BAA94610,A0A4R5 Hs.527883 pseudo 1606625 KRT19P3 keratin 19 pseudogene 3 442114 NG_009651,AC005509 pseudo 1342754 KRT2 keratin 2 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq] 1600192,1580863 10564334,10233323,10233306,10084318,9833038,9804344,9204966,9036938,8999895,8077693,7521371,17373842,1380918,7524919,12598329,15737202,18029348,17408392,16831889,15949009,15489334,12477932,11531804,11167982,10688369,10620137,15527767 1600192 3849 NG_008296,AC055715,AC055716,AF019084,NM_000423,CH471054,AL598277,BC096294,BC099643,BC099644,M99061 NP_000414,AAB81946,EAW96641,AAH96294,AAH99643,AAH99644,AAC83410,P35908 Hs.707 CK-2e|K2e|KRT2A|KRT2E|KRTE|MGC116967|MGC116968 cytokeratin-2e|epidermal ichthyosis bullosa of Siemens|epithelial keratin-2e|keratin, type II cytoskeletal 2 epidermal|keratin-2 epidermis|keratin-2e|type-II keratin Kb2 protein-coding 1347381 KRT20 keratin 20 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 1580863,2317676 18029348,16362976,16608857,8359595,12857878,10973561,19188603,19119477,19098678,19074466,18813128,18804101,18705345,18587323,18387990,18265645,18246436,18092953,18072261,18069772,17593078,17525485,17378731,17240035,16831889,16722930,16473461,16286979,16189514,16083285,15871722,15489334,15371952,14631371,12954496,12894563,12636102,12515621,12477932,11962749,11857318,11844829,11642721,11279113,7689500,1696264,20574624,19145500,19287335,19645077,19664394,19724850,19893584,19914229,16344560,20936779 2317676 54474 NM_019010,NG_012286,AC004231,CH471152,X73501,AK312744,BC031559,X73502,DA426874,DB242980 NP_061883,EAW60686,CAA51913,BAG35614,AAH31559,CAA51914,P35900,ABM81709,ABM87753 Hs.84905 CD20|CK-20|CK20|K20|KRT21|MGC35423 cytokeratin 20|cytokeratin-20|keratin, type I cytoskeletal 20|keratin-20|protein IT protein-coding 1342839 KRT22 keratin 22 3154 1606170 KRT222 keratin 222 16831889,15085952,14702039,12477932 125113 NM_152349,AC073508,BK004052,CH471152,AK092967,AK308598,BC032815,BX538083,CV570846,DB465511,DB543411 NP_689562,DAA04486,EAW60672,EAW60673,AAH32815,CAD98007,Q8N1A0,ACE87284,ACE86603,ACE87473,ACE86787 Hs.6920 KA21|KRT222P|MGC45562 OTTHUMP00000164531|keratin 222 pseudogene|keratin-222 pseudogene|keratin-like protein KRT222|truncated type I keratin KA21 protein-coding 1602018 KRT223P keratin 223 pseudogene 16831889 643115 NG_009669,AC090283 pseudo 1318841 KRT23 keratin 23 (histone deacetylase inducible) The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 1580863 19383294,18676680,16831889,15081423,14702039,12477932,12015898,11683385,11135429,9373149,8125298,20936779,19170196,19625176,19692168,19893584 25984 NG_012287,NM_015515,AC004231,CH471152,AF102848,AK002047,AK225866,AK289449,AK302109,AK310880,AK314604,AL117538,BC028356,CR590444,CR595740,CR596166,CR623811,CR624508,CR626661,CR599728,CR601789,CR602144,CR606308,CR607165,CR608150,CR608577,CR608727,CR611282,CR611999,CR612571,CR617267,CR618027,CR618444,CR599508 NP_056330,EAW60687,EAW60688,EAW60689,AAK00050,BAA92054,BAF82138,BAH13628,BAG37174,CAB55984,AAH28356,Q8TC04,Q9C075,Q9UFN7,ABM82566,ABM85755 Hs.9029 CK23|DKFZp434G032|HAIK1|K23|MGC26158 CK-23|cytokeratin 23|cytokeratin-23|histone deacetylase inducible keratin 23|hyperacetylation-inducible type I keratin|keratin, type I cytoskeletal 23|keratin-23|type I intermediate filament cytokeratin protein-coding 1349415 KRT24 keratin 24 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 18029348,17317818,16831889,12477932,12230514 192666 NM_019016,NG_012417,AC090283,CH471152,AK000268,BC111964,BC111968,CR607026,CR609628 NP_061889,EAW60675,BAA91044,AAI11969,Q2M2I5 Hs.87383 FLJ20261|K24|KA24|MGC138169|MGC138173 CK-24|cytokeratin-24|keratin, type I cytoskeletal 24|keratin-24|type I keratin-24 protein-coding 1353851 KRT25 keratin 25 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 1580863 15085952,16831889,15617563,20379614 147183 NM_181534,NG_012414,AC090283,CH471152,AJ564204,AK129503 NP_853512,EAW60676,CAD91904,BAC85169,Q6ZPD6,Q7Z3Z0,AAI40409,AAI46489 Hs.55412 KRT25A CK-25|K25|K25A|OTTHUMP00000164529|cytokeratin-25|keratin 25A|keratin, type I cytoskeletal 25|keratin-25|keratin-25A|type I inner root sheath specific keratin 25 irs1|type I inner root sheath-specific keratin-K25irs1 protein-coding 1343053 KRT26 keratin 26 The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq] 1580863 16874310,16831889,15617563,12477932 353288 NM_181539,AC090283,CH471152,AJ564205,BC132951,BC136896,NG_012487 NP_853517,EAW60677,CAD91905,AAI32952,AAI36897,Q7Z3Y9 Hs.592133 CK26|K25IRS2|K26|KRT25B CK-26|K25B|cytokeratin-26|keratin 25B|keratin 25b|keratin, type I cytoskeletal 26|keratin-25B|keratin-26|type I inner root sheath specific keratin 25 irs2|type I inner root sheath-specific keratin-K25irs2 protein-coding 1345701 KRT27 keratin 27 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 1580863 16831889,15629149,15617563,11591653,10329736 342574 AJ564206,NM_181537,NG_012418,AC090283,CH471152,AF086481 CAD91906,Q7Z3Y8,AAI66634,NP_853515,EAW60678 Hs.59363 KRT25C CK-27|K25C|K27|cytokeratin-27|keratin 25C|keratin, type I cytoskeletal 27|keratin-25C|keratin-27|type I inner root sheath specific keratin 25 irs3|type I inner root sheath-specific keratin-K25irs3 protein-coding 1319917 KRT28 keratin 28 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 1580863 16831889,15617563 162605 NM_181535,NG_012419,AC090283,CH471152,AJ564207,AK129827 NP_853513,EAW60679,CAD91907,BAC85240,Q7Z3Y7,AAI46369,AAI48795 Hs.59736 KRT25D CK-28|K25D|K28|cytokeratin-28|keratin 25D|keratin, type I cytoskeletal 28|keratin-25D|keratin-28|type I inner root sheath specific keratin 25 irs4|type I inner root sheath-specific keratin-K25irs4 protein-coding 1353879 KRT3 keratin 3 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq] 1580863 9171831,18806880,16831889,16227835,15737194,8889548,7510223,6186379,2439698 3850 NM_057088,NG_008350,AC107016,CH471054,X05418,X05419,X05420,X05421,AJ628418,AK314987,BM672628,CV571376 NP_476429,EAW96645,EAW96646,CAA28991,CAA28992,CAA28993,CAA28994,CAA28995,CAA28996,CAF31522,P12035,AAI56126,AAI72453 Hs.680652 CK3|FLJ95909|K3 65 kDa cytokeratin|CK-3|cytokeratin 3|cytokeratin-3|keratin, type II cytoskeletal 3|type-II keratin Kb3 protein-coding 1315199 KRT31 keratin 31 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq] 1580863 17353931,9405442,7578244,16831889,16713569,15140206,12477932,10391933,9756910,9457912,7686952,7528047,2465162,19615732 3881 NM_002277,NG_000018,NG_012288,AC003958,CH471152,S75797,Y16787,AK313419,BC114468,X86570,AC207056 NP_002268,EAW60730,AAB32812,CAA76383,AAI14469,CAA60378,Q15323,Q16275 Hs.41696 HA1|Ha-1|KRTHA1|MGC138630|hHa1 K31|hair keratin, type I Ha1|hard keratin, type I, 1|keratin, hair, acidic,1|keratin, type I cuticular Ha1|keratin-31 protein-coding 1313247 KRT32 keratin 32 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq] 1580863 17353931,7556444,16831889,12543931,10391933,8823373,7686952,2456239 3882 NM_002278,NG_012424,AC019349,CH471152,X90761,AI190798,X81419 NP_002269,EAW60735,CAA62284,CAA57179,Q14532,AAI46287,AAI48741 Hs.41752 HA2|HKA2|KRTHA2|hHa2 K32|hair keratin, type I Ha2|hard keratin, type I, 2|keratin, hair, acidic, 2|keratin, type I cuticular Ha2|keratin-32|type I cuticular hair keratin protein-coding 1314759 KRT33A keratin 33A The protein encoded by this gene is a member of the keratin gene family. It is one of the type I hair keratin genes which are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, KRTHA3A and KRTHA3B. [provided by RefSeq] 1580863 17353931,16831889,15617563,12477932,10391933,9756910,7686952,7565656 3883 NM_004138,NG_000018,NG_012289,AC003958,CH471152,X82650,Y16788,AJ633621,AK314088,BC069135 NP_004129,EAW60727,CAA76384,CAG17613,BAG36784,AAH69135,O76009 Hs.512579 HA3I|Ha-3I|KRTHA3A|Krt1-3|hHa3-I K33A|hair keratin, type I Ha3-I|hard keratin, type I,3I|keratin, hair, acidic, 3A|keratin, type I cuticular Ha3-I|keratin-33A protein-coding 1346723 KRT33B keratin 33B The protein encoded by this gene is a member of the keratin gene family. It is one of the type I hair keratin genes which are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, KRTHA3A and KRTHA3B. [provided by RefSeq] 1580863 17353931,16831889,15489334,14718574,12477932,10391933,9756910,7686952,7565656,19615732 3884 NM_002279,NG_000018,NG_012290,AC003958,CH471152,Y16789,BC009971,X82634 NP_002270,EAW60728,CAA76385,AAH09971,CAA57956,Q14525,ABM84378,ABM87285 Hs.32950 HA3II|Ha-3II|KRTHA3A|KRTHA3B|hHa3-II K33B|hair keratin, type I Ha3-II|hard keratin, type I, 3II|keratin, hair, acidic, 3B|keratin, type I cuticular Ha3-II|keratin-33B|type I hair keratin 3B protein-coding 1350893 KRT34 keratin 34 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq] 1580863 17353931,9756910,16831889,16286979,12477932,10391933,7686952,2431943,19615732 3885 NM_021013,NG_000018,NG_012291,AC003958,CH471152,Y16790,BC033252,BC041070,AC207056,XM_003118486,XM_003118487 NP_066293,EAW60729,CAA76386,AAH33252,AAH41070,O76011,XP_003118534,XP_003118535 Hs.296942 HA4|Ha-4|KRTHA4|hHa4 K34|OTTHUMP00000164635|hair keratin, type I Ha4|hard keratin, type I, 4|keratin, hair, acidic, 4|keratin, type I cuticular Ha4|keratin-34 protein-coding 1354440 KRT35 keratin 35 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq] 1580863 8823373,18021261,16831889,15140206,10391933,9756910,7686952,17353931,19615732 3886 NM_002280,NG_012292,AC019349,CH471152,X90762,Y16791,X90763 NP_002271,EAW60736,EAW60737,CAA62285,CAA76387,CAA62286,Q92764,AAI40366,AAI46509 Hs.73082 HA5|Ha-5|KRTHA5|hHa5 HHa5 hair keratin type I intermediate filament|K35|OTTHUMP00000164623|hair keratin, type I Ha5|hard keratin, type I, 5|keratin, hair, acidic, 5|keratin, type I cuticular Ha5|keratin-35 protein-coding 1314039 KRT36 keratin 36 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq] 1580863 17353931,9756910,17081983,16831889,12477932,10391933,19615732,7979242,7686952 8689 NM_003771,NG_012293,AC019349,CH471152,Y16792,BC043581 NP_003762,EAW60738,EAW60739,CAA76388,AAH43581,O76013 Hs.248189 HA6|KRTHA6|hHa6 K36|hair keratin, type I Ha6|keratin, hair, acidic, 6|keratin, type I cuticular Ha6|keratin-36 protein-coding 1346996 KRT37 keratin 37 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq] 1580863 9756910,16831889,15617563,10391933,7686952 8688 NM_003770,NG_000018,NG_012294,AC003958,CH471152,Y16793,AJ786655,AK123843 NP_003761,EAW60731,EAW60732,EAW60733,CAA76389,CAH10350,BAC85705,O76014,Q6A165,Q6ZW03,AAI40320 Hs.463024,Hs.673852 HA7|KRTHA7|hHa7 K37|hair keratin, type I Ha7|keratin, hair, acidic, 7|keratin, type I cuticular Ha7|keratin-37 protein-coding 1350539 KRT38 keratin 38 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq] 1580863 9756910,16831889,15617563,15248378,10391933,7686952,12477932 8687 NM_006771,NG_012295,AC019349,CH471152,Y16794,AJ786656,BC131715 NP_006762,EAW60734,CAA76390,CAH10351,AAI31716,O76015 Hs.248188 HA8|KRTHA8|hHa8 K38|hair keratin, type I Ha8|keratin, hair, acidic, 8|keratin, type I cuticular Ha8|keratin-38 protein-coding 1604916 KRT39 keratin 39 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 12477932,17301834,16831889,15617563,15085952 390792 NM_213656,NG_012415,AC004231,AC007455,AC037482,CH471152,AJ786657,BC157887,BC171907,BK004054 NP_998821,EAW60690,CAH10352,AAI57888,DAA04487,Q6A163,AAI60073 Hs.28467 CK-39|K39|KA35 cytokeratin-39|keratin, type I cytoskeletal 39|keratin-39|type I hair keratin KA35 protein-coding 1342912 KRT4 keratin 4 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq] 1600193,1580863 2452170,19468300,18992023,17709412,16831889,15489334,14702039,12828738,12477932,11132762,10652003,9727005,9452892,7684424,2466616,2433356,19515043,19468302,20562859,19615732 1600193 3851 X07695,X67683,NM_002272,NG_007380,AC107016,AF066051,AY043326,CH471054,X61028,X97566,AK056254,AK098110,AK296582,AK299394,AK299400,AK299451,AK307941,BC003630,BC012867,BC032132,BC042174 AAH42174,CAA30534,CAA47914,P19013,Q6PIN2,ACE87613,ACE86926,NP_002263,AAC34807,AAL14196,EAW96647,CAA43362,BAG59202,BAG61379,BAG61384,BAG61423,AAH03630,AAH32132 Hs.654610,Hs.706527 CK4|CYK4|FLJ31692|K4 CK-4|cytokeratin 4|cytokeratin-4|keratin, type II cytoskeletal 4|type-II keratin Kb4 protein-coding 1606169 KRT40 keratin 40 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq] 17301834,16831889,15617563,15085952,14702039,12477932 125115 NM_182497,NG_012412,AC007455,AC037482,CH471152,AJ786658,AK093919,BC130396,BC144250,BC150174,BC150191,BK004055 NP_872303,EAW60691,EAW60692,CAH10353,BAC04250,AAI30397,AAI44251,AAI50175,AAI50192,DAA04488,Q6A162,Q8N9S8,ADR83001 Hs.534929 CK-40|FLJ36600|K40|KA36 OTTHUMP00000164963|cytokeratin-40|keratin, type I cytoskeletal 40|keratin-40|type I hair keratin KA36 protein-coding 1348786 KRT41P keratin 41 pseudogene 16831889,9756910 8686 NG_000018,AC003958,Y16795 KRTHAP1 keratin, hair, acidic, pseudogene 1 pseudo 1604961 KRT42P keratin 42 pseudogene 16831889,14702039 284116 AC130686,AK095281,AK125965,NR_033415 BAC86365,Q6ZU61 Hs.725790 pseudo 1343872 KRT5 keratin 5 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq] 1600195,1600196,1580863 8636216,7688477,7686424,7684424,7537780,7534039,7525601,7506097,2476664,2456903,2455002,2447486,1720261,1718160,1713141,1378478,1372711,1284070,8757772,10727209,7520042,7679677,19651890,19605815,19578363,19461998,19366057,19278431,19267394,19023099,18833821,18662989,18499686,18261623,18064689,18035671,17975119,17855059,17650314,17549391,17388661,17229601,17039244,16882168,16831889,16786515,16465624,16152605,16098032,15731015,15731013,15647384,15618924,15489334,15347343,15324323,14723728,14702039,12925204,12802069,12707098,12655565,12648226,12477932,12466114,11973334,11591653,11407989,11407988,11167681,10903910,10852826,10782015,10730767,10494094,10383750,10234505,9989794,9804357,9786957,9740251,9406827,9129237,9036937,8999895,15140024,8807337,8799157,21164283,20151404,20030639,20128788,20877624,16757171,19102940,19156550,19220453,19430419,19529775,19616543,19675450,19691749,19720911,19797037,19847192,20060687,19882246,20936779,20222933,20055872 1600195,1600196 3852 NM_000424,NG_008297,AC055736,AF274874,CH471054,D50666,M28496,S56203,AK093720,AK296823,AK303972,AK310827,AY373434,BC024292,BC042132,BC071906,M19723,M21389 NP_000415,AAF97931,EAW96632,EAW96633,EAW96634,EAW96635,BAA09320,AAD14917,BAG59394,BAG64893,AAQ81588,AAH24292,AAH42132,AAH71906,AAA36145,AAA36143,P13647,Q9UEK9,ABM83772,ABM87091 Hs.433845 CK5|DDD|EBS2|K5|KRT5A 58 kda cytokeratin|CK-5|cytokeratin-5|epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types|keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)|keratin, type II cytoskeletal 5|type-II keratin Kb5 protein-coding 1346482 KRT6A keratin 6A The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq] 1580863 16189514,7543104,7545493,18489596,17719747,17650314,16831889,16344560,15737194,15489334,12477932,11886499,7525601,6191871,1713141,20470930,15731013,15731017,19416275,19720911,19806570,20140871,2410904,19699613,20403371 3853 BT006899,CR612432,DA451441,BG059253,NM_005554,NG_008298,AC055736,CH471054,L42575,L42576,L42577,L42578,L42579,L42580,L42581,L42582,L42583,L42593,L42601,L42610,V01516,AK290245,AK299386,AK299428,AK301686,BC008807,BC014152,BC069269,BC125058,BC139753 AAP35545,P02538,AAP36273,ABM92236,ABM84714,NP_005545,EAW96631,AAC41767,AAC41769,AAB60696,CAA24760,BAF82934,BAG61372,BAG61408,BAG63158,AAH08807,AAH14152,AAH69269,AAI25059,AAI39754 Hs.700779 CK6A|CK6C|CK6D|K6A|K6C|K6D|KRT6C|KRT6D cytokeratin 6A|cytokeratin 6C|cytokeratin 6D|keratin, epidermal type II, K6A|keratin, type II cytoskeletal 6A|type-II keratin Kb6 protein-coding 1349887 KRT6B keratin 6B The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq] 1580863 7543104,2470667,2410904,1713141,1286667,1284199,9618173,16831889,16189514,15489334,12477932,19720911 3854 HI519564,NM_005555,NG_008299,AC055736,CH471054,L00205,L42584,L42585,L42586,L42587,L42588,L42589,L42590,L42591,L42592,M11229,AK296729,BC034535,BG679927,L42612 CBX54363,NP_005546,EAW96626,EAW96627,AAA59466,AAC41768,BAG59316,AAH34535,AAC41771,P04259,ABM82253,ABM85437 Hs.708950 CK6B|K6B|KRTL1|PC2 CK-6B|cytokeratin 6B|cytokeratin-6B|keratin, epidermal, type II, K6B|keratin, type II cytoskeletal 6B|keratin-6B|keratin-like 1 (a type II keratin sequence)|type-II keratin Kb10 protein-coding 1351268 KRT6C keratin 6C Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq] 1580863 16831889,16541075,12477932,11683385,9054461,7543104,19609311,20081885 286887 NM_173086,NG_012416,AC055736,BK000962,CH471054,AK299478,AK313239,BC110639,BC130583,BC130585,L42611 NP_775109,DAA01484,EAW96628,EAW96629,BAG61442,BAG36050,AAI10640,AAI30584,AAI30586,AAC41770,P48668 Hs.709234 K6E|KRT6E|MGC102925|MGC163455|MGC163457 CK-6C|CK-6E|K6C|cytokeratin-6C|cytokeratin-6E|keratin 6E|keratin 6e|keratin K6h|keratin, type II cytoskeletal 6C|keratin-6C|type-II keratin Kb12 protein-coding 1347673 KRT6D keratin 6D 1580863 7543104,16831889 140466 L42610 AAB60696 CK6D|K6D protein-coding 1322014 KRT7 keratin 7 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1580863,2317439,2317307,2317308 8895530,8125298,2436934,2415537,1713141,11591653,20398190,20557372,11169732,12072504,10492017,2459129,19419944,19396034,19302533,19157505,19098678,19032382,18949396,18936968,18604734,18602664,18478571,18317225,18092953,18042078,17593078,17388661,17081983,16879391,16831889,16483709,15894926,15782174,15502805,15489654,15489334,15371952,14631371,14513050,12577067,12477932,12359226,11962749,11888936,11840567,9734130,9614373,9373149,15231748,17715023,18029348,19601945,19614771,20001343,20043065,20574624 2317439,2317307,2317308 3855 NM_005556,NG_012296,AC021066,AF509891,AF509892,CH471111,X13320,AF509887,AJ238246,AK025881,AK128505,AK128848,AK129924,AK225498,BC002700,BC009521,BC042076,BC107082,BC107083,BE740515,BE744321,BU527162,CR599089,X03212,Z36852 NP_005547,AAN64035,EAW58240,EAW58241,CAA31695,AAN64031,CAB41416,BAG54741,AAH02700,AAH09521,AAI07083,AAI07084,CAA26956,P08729,Q3KNV1,Q96GE1,ABM83922,ABM87243 Hs.411501,Hs.670221 CK7|K2C7|K7|MGC129731|MGC3625|SCL CK-7|cytokeratin 7|cytokeratin-7|keratin, 55K type II cytoskeletal|keratin, simple epithelial type I, K7|keratin, type II cytoskeletal 7|keratin-7|sarcolectin|type II mesothelial keratin K7|type-II keratin Kb7 protein-coding 1604251 KRT71 keratin 71 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13. 16831889,14702039,12648212,12477932,11982755 112802 NM_033448,NG_012426,AC055736,CH471054,AJ308599,AJ308600,AJ308601,AK122795,BC103917,BC103918 NP_258259,EAW96636,CAC43429,BAG53733,AAI03918,AAI03919,Q3SY84,ACE87776,ACT64442 Hs.660007 K6IRS1|KRT6IRS|KRT6IRS1|MGC119390|MGC119391 CK-71|K71|cytokeratin-71|hK6irs|hK6irs1|keratin 6 irs|keratin, type II cytoskeletal 71|keratin-71|type II inner root sheath-specific keratin-K6irs1|type-II keratin Kb34 protein-coding 1605869 KRT72 keratin 72 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene. 17388661,16831889,14702039,12648212,12477932,11703281,9630597 140807 NM_080747,NM_001146225,NM_001146226,NG_012427,AC055715,AY033496,CH471054,AK093060,AK293645,AK302016,AY033495,BC113686,BX089867,HC007066 NP_542785,NP_001139697,NP_001139698,AAK55109,EAW96638,EAW96639,BAC04039,BAG57099,BAG63416,AAK55108,AAI13687,Q14CN4,ADR83208,CBH19338 Hs.662013 K6IRS2|K6irs|KRT6|KRT6IRS2|MGC142246 CK-72|K72|cytokeratin-72|keratin 6, inner root sheath, 2|keratin protein K6irs|keratin, type II cytoskeletal 72|keratin-72|type II inner root sheath-specific keratin-K6irs2|type-II keratin Kb35 protein-coding 1605236 KRT73 keratin 73 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13. 16831889,12648212,12477932 319101 NM_175068,NG_012319,AC055715,CH471054,AJ508776,BC109212 NP_778238,EAW96640,CAD48513,AAI09213,Q86Y46 Hs.55410 IRT6IRS3|K6IRS3|KRT6IRS3|MGC129635|MGC129636 CK-73|K73|cytokeratin-73|keratin 6 irs3|keratin, type II cytoskeletal 73|keratin-73|type II inner root sheath-specific keratin-K6irs3|type-II keratin Kb36 protein-coding 1605882 KRT74 keratin 74 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles. 19023099,17975119,16831889,12648212,11683385,14968112,20346438,20379614 121391 NM_175053,AC055715,BK000977,CH471054,AF086480,AI092341,AJ508777,NG_012321 NP_778223,DAA00404,EAW96637,CAD48514,Q7RTS7,AAI60050 Hs.660125 K6IRS4|KRT5C|KRT6IRS4 CK-74|K5C|K74|cytokeratin-74|keratin 5c|keratin 6 irs4|keratin, type II cytoskeletal 74|keratin-5c|keratin-74|type II inner root sheath-specific keratin-K6irs4|type-II keratin Kb37 protein-coding 1603409 KRT75 keratin 75 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq] 19614992,9856802,19366057,18499686,16831889,15292489,15086549,11939812,10692104,9373149,8125298 9119 NM_004693,NG_008403,AC055736,CH471054,Y19212,AK225962,AK298960,Y17282 NP_004684,EAW96625,CAB76832,BAG61056,CAA76730,O95678,AAI60175 Hs.697046 K6HF|KB18|PFB CK-75|K75|cytokeratin type II|cytokeratin-75|hK6hf|keratin, type II cytoskeletal 75|keratin-6 hair follicle|keratin-75|type II keratin-18|type II keratin-K6hf|type-II keratin Kb18 protein-coding 1605387 KRT76 keratin 76 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq] 1282112,16831889,15737194 51350 NM_015848,NG_012420,AC068988,AC139763,AJ564103,CH471054,AK299390,M99063 NP_056932,CAD91891,EAW96644,BAG61375,AAA35746,Q01546,AAI67839 Hs.654392 HUMCYT2A|KRT2B|KRT2P CK-2P|K2P|K76|cytokeratin 2|cytokeratin-2P|keratin 2p|keratin, type II cytoskeletal 2 oral|keratin-76|type-II keratin Kb9 protein-coding 1352886 KRT77 keratin 77 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13. 1580863 11683385,17353931,16831889,16541075,16117782,15737194,12477932,19615732 374454 NM_175078,AC055716,BK000975,CH471054,AJ564104,BC033366,BC118598,BC122558,NG_012322 NP_778253,DAA00402,EAW96643,CAD91892,AAI18599,AAI22559,Q0IIN1,Q147W7,Q7Z794 Hs.334989 K1B|KRT1B|MGC148087 CK-1B|K77|cytokeratin-1B|keratin 1B|keratin 1b|keratin, type II cytoskeletal 1b|keratin-77|type-II keratin Kb39 protein-coding 1606944 KRT78 keratin 78 This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq] 17353931,16831889,16344560,15737194,15085952,14702039,11792552,11683385,2433356,10692104 196374 NM_173352,NG_012297,AC107016,BK000646,CH471054,AI143912,AK096419,AK290901,AK298636,BX647095,DA667429 NP_775487,DAA00377,EAW96649,EAW96650,BAC04782,BAF83590,BAG60811,CAI46001,Q8N1N4,AAI41555 Hs.665267 K5B|Kb40 CK-78|K78|cytokeratin-78|keratin 5b|keratin, type II cytoskeletal 78|keratin-5b|keratin-78|type-II keratin Kb40 protein-coding 1602275 KRT79 keratin 79 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13. 15737194,12477932,11683385,19615732 338785 NM_175834,NG_012323,AC107016,BK000976,CH471054,AJ564105,AK130156,BC039148,BC063648 AAH63648,Q5XKE5,NP_787028,DAA00403,EAW96648,CAD91893,AAH39148 Hs.711471 FLJ26646|K6L|KRT6L CK-79|K79|cytokeratin-79|keratin 6-like|keratin 6L|keratin, type II cytoskeletal 79|keratin-6-like|keratin-6L|keratin-79|type-II keratin Kb38 protein-coding 735536 KRT8 keratin 8 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. [provided by RefSeq] 1600062,1580863 14556659,12868678,12724528,12577067,12477932,12474161,12429849,12388748,12367790,12366696,12235123,12218095,12168793,11923318,11790298,11788583,11781324,11581269,11372009,11076863,10852826,10809736,9988531,9630597,9560222,9459484,9409741,9373149,9211903,9150948,9054461,8895530,8125298,8037842,6186379,2482017,2471065,2467436,2459839,2456993,2434381,1711732,1705144,1692965,1691124,1374067,16169070,1690513,1371500,20398190,20098747,20936779,10954706,11684708,16608857,19419944,19204726,19190970,19115206,19032382,18953437,18941637,18725232,18577580,18497550,18432282,18353540,18343496,18236071,17954264,17509943,17373842,17353931,17213200,17126832,17081983,17039343,17034788,16964243,16911694,16892178,16831889,16818723,16565220,16381901,16344560,16341674,16327287,16143128,16083285,16000376,15972820,15952740,15846844,15838910,15822942,15737616,15731013,15529338,15489336,15489334,15368451,15319370,15314064,15252834,15248378,15235035,15194421,15090596,14756564,14568682,20587546,20659422,20530580,19246484,19585610,19615732,19755983,19845941,20109457,20538000,19188445,20729549 1600062 3856 NG_008402,AC107016,CH471054,M34482,X74981,AI150751,AK222941,AK290938,AK310257,AK315826,BC000654,BC008200,BC011373,BC063513,BC073760,BC075839,BE300986,BM854215,BX417476,CR590215,CR590701,CR590770,CR590847,CR591529,CR591747,CR591891,CR592000,CR592074,CR592661,CR593206,CR593601,CR593725,CR593893,CR593968,CR595061,CR595210,CR595443,CR595521,CR596245,CR596503,CR597041,CR597269,CR597662,CR597872,CR598939,CR599548,CR599921,CR600083,CR600505,CR601186,NM_002273,CR601787,CR602110,CR602175,CR602560,CR602669,CR602866,CR603149,CR603822,CR604045,CR604368,CR605138,CR605238,CR605272,CR605459,CR605586,CR605969,CR606768,CR606810,CR607028,CR607281,CR607513,CR607546,CR607818,CR607975,CR608394,CR609791,CR610669,CR610938,CR611060,CR611526,CR611683,CR611761,CR611843,CR611937,CR611949,CR613740,CR615013,CR615200,CR615554,CR616154,CR616278,CR616496,CR616504,CR617220,CR617828,CR617849,CR618193,CR618935,CR619053,CR619074,CR619675,CR620101,CR620184,CR620608,CR620850,CR621272,CR621908,CR621999,CR622280,CR622722,CR622856,CR623630,CR624027,CR624626,CR624959,CR625626,CR625685,CR625711,CR625900,CR626097,CR626602,CR626612,CR626613,DA825311,M26512,M34225,M77025,U76549,X12882,X74929,X98614,Z36777 NP_002264,EAW96651,EAW96652,EAW96653,EAW96654,AAA35763,CAA52916,BAD96661,BAF83627,BAF98717,AAH00654,AAH08200,AAH11373,AAH63513,AAH73760,AAH75839,AAA51542,AAA35748,AAB18966,CAA31376,CAA52882,CAA67203,P05787,Q7L4M3,Q969I0,CAL37704,CAL37770,ABM83563,ABM86801 Hs.708445,Hs.533782 CARD2|CK8|CYK8|K2C8|K8|KO CK-8|cytokeratin 8|cytokeratin-8|keratin, type II cytoskeletal 8|keratin-8|type-II keratin Kb8 protein-coding 1606454 KRT80 keratin 80 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is weakly expressed in the tongue. The type II keratins are clustered in a region of chromosome 12q13. 16831889,15737194,12477932,20843789,17207965 144501 NG_012324,NM_001081492,NM_182507,AC021066,CH471111,AJ717743,AL162069,BC033114,BC047308,BC065180,BU151185,BX537567,CR596084 NP_001074961,NP_872313,EAW58235,EAW58236,EAW58237,CAG30732,AAH65180,CAD97784,Q6KB66,ADQ32921 Hs.140978 KB20 CK-80|K80|cytokeratin-80|keratin b20|keratin, type II cytoskeletal 80|keratin-80|type II keratin|type-II keratin Kb20 protein-coding 1352979 KRT81 keratin 81 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq] 1580863,1600197 16189514,18021261,16831889,15797458,15489334,15231748,14520698,12477932,11792552,10692104,9665406,9457912,9402962,7528047,7490069,7556444,19615732 1600197 3887 NM_002281,NG_008184,AC121757,AY121753,AY123848,CH471111,S75796,Y13621,Y19206,BC006452,BC021241,BC031978,BC117465,BC117467,X80197,X81420 NP_002272,AAM94951,AAM92877,EAW58243,AAB32813,CAA73943,CAB76826,AAH06452,AAH21241,AAI17466,AAI17468,CAA56488,CAA57180,Q14533,Q8N120,Q9NSB5,ADR83185 Hs.658118 HB1|Hb-1|KRTHB1|MLN137|ghHkb1|hHAKB2-1 K81|MLN 137|ghHb1|hair keratin K2.9|hard keratin, type II, 1|keratin, hair, basic, 1|keratin, type II cuticular Hb1|keratin-81|metastatic lymph node 137 gene protein|type II hair keratin Hb1|type-II keratin Kb21 protein-coding 1350237 KRT82 keratin 82 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq] 1580863 17353931,10692104,16831889,15737194,2431943 3888 NM_033033,NG_012298,AC078865,CH471054,Y19207,AJ628419 NP_149022,EAW96624,CAB76827,CAF31523,Q701L7,Q9NSB4,AAI48498,AAI53100 Hs.134640 HB2|Hb-2|KRTHB2 K82|hard keratin, type II, 2|keratin, hair, basic, 2|keratin, type II cuticular Hb2|keratin-82|type II hair keratin Hb2|type-II keratin Kb22 protein-coding 1318342 KRT83 keratin 83 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq] 1580863 9084137,16831889,15797458,15744029,12477932,11445569,10692104 3889 NM_002282,NG_008352,AC121757,Y19208,AK314904,BC069546,BC126935,BC128063,X99141 NP_002273,CAB76828,BAG37418,AAH69546,AAI26936,AAI28064,CAA67578,P78385 Hs.720768 HB3|Hb-3|KRTHB3|MGC141663 K83|hHb3|hair keratin K2.10|hard keratin, type II, 3|keratin, hair, basic, 3|keratin, type II cuticular Hb3|keratin-83|type II hair keratin Hb3|type-II keratin Kb23 protein-coding 1343377 KRT84 keratin 84 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq] 1580863 10692104,16831889,15737194,15489334,12477932,2431943,19615732 3890 NM_033045,NG_012299,AC078865,CH471054,Y19209,AJ628420,AK314030,BC069647 NP_149034,EAW96623,CAB76829,CAF31524,BAG36740,AAH69647,Q9NSB2 Hs.272336 HB4|KRTHB4 K84|hard keratin, type II, 4|keratin, hair, basic, 4|keratin, type II cuticular Hb4|keratin-84|type II hair keratin 4|type II hair keratin Hb4|type-II keratin Kb24 protein-coding 1350889 KRT85 keratin 85 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq] 1580863 17353931,9084137,18021261,16831889,16525032,10727209,10692104,10391933,8823373,19615732,19865094,20409997,19684603,20562859 3891 NM_002283,NG_008353,AC078865,CH471054,Y19210,AK302303,X99140 NP_002274,EAW96622,CAB76830,BAH13669,CAA67577,P78386,AAI66627 Hs.182507 HB5|Hb-5|KRTHB5|hHb5 K85|hair keratin K2.12|hard keratin, type II, 5|keratin, hair, basic, 5|keratin, type II cuticular Hb5|keratin-85|type II hair keratin Hb5|type-II keratin Kb25 protein-coding 1348087 KRT86 keratin 86 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq] 1600198,1580863 18393232,16831889,15797458,15489334,15183744,12477932,10692104,10594761,10504448,10469314,9457912,9402962,9084137,7556444,19505862,17207965 1600198 3892 NM_002284,NG_008086,AC121757,AF416705,AF416706,AJ000263,AY152543,AY152544,AY152545,Y19211,AK057905,AK292237,AK297794,BC069585,X99142 NP_002275,AAN04663,AAN04664,CAA03979,AAN75225,AAN75226,AAN75227,CAB76831,BAF84926,BAG60134,AAH69585,CAA67579,O43790,Q6YFL2,Q6YFL4,Q9NSB0,ADQ31947 Hs.278658 FLJ25176|HB6|Hb1|KRTHB1|KRTHB6|MNX|hHb6 K86|hair keratin K2.11|hard keratin, type II, 6|keratin protein HB6|keratin, hair, basic, 6 (monilethrix)|keratin, type II cuticular Hb6|keratin-86|type II hair keratin Hb6|type-II keratin Kb26 protein-coding 1347354 KRT8P1 keratin 8 pseudogene 1 338017 NG_007444,AL359950 pseudo 1603845 KRT8P10 keratin 8 pseudogene 10 344320 NG_009650,AC064871 pseudo 1345213 KRT8P11 keratin 8 pseudogene 11 347265 NG_005157,AL137067 CAC08001 KRT8L1|RP11-13B9.3 keratin 8-like 1 pseudo 1605908 KRT8P12 keratin 8 pseudogene 12 12477932 90133 BC125160,NG_005512,AC078868,AL133645,BC125159 Hs.595594 KRT8L2 pseudo 1604854 KRT8P13 keratin 8 pseudogene 13 730023 NG_005969,AC008041 pseudo 1606394 KRT8P14 keratin 8 pseudogene 14 347333 NG_009729,AL034412,AL391134 pseudo 1604128 KRT8P15 keratin 8 pseudogene 15 645834 NG_009732,AC010900 pseudo 1603537 KRT8P16 keratin 8 pseudogene 16 220959 NG_006099,AL139403 pseudo 1603815 KRT8P17 keratin 8 pseudogene 17 392479 NG_005968,AL034396 pseudo 1606855 KRT8P18 keratin 8 pseudogene 18 442078 NG_009736,AC092052,AC096916,AC109585 pseudo 1606615 KRT8P19 keratin 8 pseudogene 19 644998 NG_009706,AC020647 pseudo 1344322 KRT8P2 keratin 8 pseudogene 2 338018 1605481 KRT8P20 keratin 8 pseudogene 20 441218 NG_009704,AC011309,CH236951 pseudo 1605004 KRT8P21 keratin 8 pseudogene 21 126811 AL606535,AL732618,NG_009686 pseudo 1605536 KRT8P22 keratin 8 pseudogene 22 342419 NG_009713,AC079414 pseudo 1605193 KRT8P23 keratin 8 pseudogene 23 390610 NG_009733,AC090181 pseudo 1606847 KRT8P24 keratin 8 pseudogene 24 729344 NG_009475,AC091073 pseudo 1605780 KRT8P25 keratin 8 pseudogene 25 402134 NG_009735,AC130885 pseudo 1606378 KRT8P26 keratin 8 pseudogene 26 390211 NG_005967,AP001266,AP001362 pseudo 1605767 KRT8P27 keratin 8 pseudogene 27 442455 NG_009685,AL356265 pseudo 1604147 KRT8P28 keratin 8 pseudogene 28 391099 NG_009726,AL450992 pseudo 1603818 KRT8P29 keratin 8 pseudogene 29 391155 NG_009747,AC118554 pseudo 1353644 KRT8P3 keratin 8 pseudogene 3 399551 1606641 KRT8P30 keratin 8 pseudogene 30 391485 NG_009677,AC097468 pseudo 1350995 KRT8P4 keratin 8 pseudogene 4 399552 1348279 KRT8P5 keratin 8 pseudogene 5 342732 NG_007003,AC110014 pseudo 1603465 KRT8P6 keratin 8 pseudogene 6 392552 NG_021118,Z81311 pseudo 1603718 KRT8P7 keratin 8 pseudogene 7 729131 NG_009479,AP003393 pseudo 1604904 KRT8P8 keratin 8 pseudogene 8 402429 NG_009749,AC108171 pseudo 1605194 KRT8P9 keratin 8 pseudogene 9 390601 NG_009731,AC090868 pseudo 736715 KRT9 keratin 9 This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq] 1600065,1580863 2140676,17373842,8647270,10218578,7507869,18029348,19106041,18573708,18477167,17362238,16831889,16043929,14675368,12532041,12477932,11774369,9856842,9204965,7532199,7523529,7516304,7512862,7511021,7504553,1385292,15324660,16169070,19451521,19548225,19874353 1600065 3857 NM_000226,NG_008300,AC019349,CH471152,X75015,AB001594,BC121170,S69510,Z29074 NP_000217,EAW60744,CAA52924,BAA19418,AAI21171,AAC60619,CAA82315,P35527,AAI67813 Hs.654569 CK-9|EPPK|K9 cytokeratin 9|cytokeratin-9|keratin, type I cytoskeletal 9|keratin-9|type I cytoskeletal 9 protein-coding 1345098 KRTAP1-1 keratin associated protein 1-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15489334,12477932,12228244,11841537,11279113 81851 NM_030967,AC007455,CH471152,X63337,AB052868,AB052934,AB055057,AJ406926,BC069321,BC069450,BC105069,BC105071 NP_112229,EAW60699,CAA44937,BAB61024,BAB61026,BAB61031,CAC27565,AAI05070,AAI05072,Q07627 Hs.247934 HB2A|KAP1.1|KAP1.1A|KAP1.1B|KAP1.6|KAP1.7|KRTAP1.1|KRTAP1A|hKAP1.7 high sulfur keratin-associated protein 1.1|keratin associated protein 1.7|keratin associated protein 1A|keratin-associated protein 1-1|keratin-associated protein 1.1|keratin-associated protein 1.6|keratin-associated protein 1.7 protein-coding 1351871 KRTAP1-3 keratin associated protein 1-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1279380,15489334,12477932,12228244,11279113 81850 NM_030966,AB081339,AC007455,CH471152,AJ406927,BC069161,BC101150,BC101151,BC101152,BC101153 NP_112228,BAC15620,EAW60698,CAC27566,AAH69161,AAI01151,AAI01152,AAI01153,AAI01154,Q8IUG1 Hs.534495 KAP1.2|KAP1.3|KAP1.6|KAP1.8A|KAP1.8B|KAP1.9|KRTAP1.3|MGC119903|MGC119904|MGC119905 keratin associated protein 1.6|keratin-associated protein 1-3|keratin-associated protein 1.8|keratin-associated protein 1.9 protein-coding 1349275 KRTAP1-4 keratin associated protein 1-4 The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM] 16625196,12228244,11279113 728255 XM_001127005,AC007455,XM_002347760 XP_001127005,P0C5Y4,XP_002347801 KAP1.4|KRTAP1.4 OTTHUMP00000165000|high sulfur keratin-associated protein 1.4|keratin associated protein 1-4|keratin-associated protein 1-4|keratin-associated protein 1.4 protein-coding 1347123 KRTAP1-5 keratin associated protein 1-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15489334,12477932,12228244,11279113 83895 NM_031957,AC007455,CH471152,AJ406928,BC069533,BC093841,BC101555 NP_114163,EAW60697,CAC27567,AAH69533,AAH93841,AAI01556,Q9BYS1 Hs.534499 KAP1.5|KRTAP1.5|MGC126604 OTTHUMP00000164953|high sulfur keratin-associated protein 1.5|keratin associated protein 1.5|keratin-associated protein 1-5|keratin-associated protein 1.5 protein-coding 1605520 KRTAP10-1 keratin associated protein 10-1 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq] 15028290,14962103,12477932,12359730,10830953 386677 NM_198691,AP001067,CH471079,AB076347,AJ566380,BC120959,BC120960 NP_941964,EAX09420,BAD01534,CAD97461,AAI20960,AAI20961,P60331 Hs.688631 KAP10.1|KAP18-1|KAP18.1|KRTAP10.1|KRTAP18-1|KRTAP18.1 high sulfur keratin-associated protein 10.1|keratin-associated protein 10-1|keratin-associated protein 10.1|keratin-associated protein 18-1|keratin-associated protein 18.1 protein-coding 1345335 KRTAP10-10 keratin associated protein 10-10 1580863 15028290,14962103,10830953 353333 NM_181688,AL773602,CH471079,AB076358,AJ566387 NP_859016,EAX09410,BAD01545,CAD97467,P60014,AAI56524,AAI72516 Hs.474001 KAP10.10|KAP18.10|KRTAP18-10|KRTAP18.10 high sulfur keratin-associated protein 10.10|keratin-associated protein 10-10|keratin-associated protein 10.10|keratin-associated protein 18-10|keratin-associated protein 18.10 protein-coding 1354095 KRTAP10-11 keratin associated protein 10-11 15028290,12477932,10830953 386678 NM_198692,AL773602,CH471079,AB076359,AF086314,BC131611,BX103563 NP_941965,EAX09409,BAD01546,AAI31612,P60412 Hs.58076 KAP10.11|KAP18.11|KRTAP18-11|KRTAP18.11 high sulfur keratin-associated protein 10.11|keratin associated protein 18-11|keratin-associated protein 10-11|keratin-associated protein 10.11|keratin-associated protein 18-11|keratin-associated protein 18.11 protein-coding 1350396 KRTAP10-12 keratin associated protein 10-12 15028290,10830953,12477932 386685 NM_198699,AL773604,CH471079,AB076364,BC137339,BC137341 NP_941972,EAX09404,BAD01551,AAI37340,AAI37342,P60413 Hs.297526 KAP10.12|KRTAP18-12|KRTAP18.12 high sulfur keratin-associated protein 10.12|keratin associated protein 18-12|keratin-associated protein 10-12|keratin-associated protein 10.12|keratin-associated protein 18-12|keratin-associated protein 18.12 protein-coding 1605519 KRTAP10-2 keratin associated protein 10-2 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. 15028290,14962103,12359730,10830953 386679 NM_198693,AP001067,CH471079,AB076348,AB076349,AJ566381 NP_941966,EAX09419,BAD01535,BAD01536,CAD97462,P60368,Q76LM9,AAI46373,AAI46566 Hs.664660,Hs.689667 KAP10.2|KAP18-2|KAP18.2|KRTAP10.2|KRTAP18-2|KRTAP18.2 high sulfur keratin-associated protein 10.2|keratin-associated protein 10-2|keratin-associated protein 10.2|keratin-associated protein 18-2|keratin-associated protein 18.2 protein-coding 1605517 KRTAP10-3 keratin associated protein 10-3 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq] 15028290,14962103,12359730,10830953,12477932 386682 NM_198696,AP001067,AB076350,AJ566383,BC133677 NP_941969,BAD01537,CAD97463,AAI33678,P60369 Hs.688630 KAP10.3|KAP18-3|KAP18.3|KRTAP10.3|KRTAP18-3|KRTAP18.3 high sulfur keratin-associated protein 10.3|keratin-associated protein 10-3|keratin-associated protein 10.3|keratin-associated protein 18-3|keratin-associated protein 18.3 protein-coding 1345547 KRTAP10-4 keratin associated protein 10-4 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. 15489334,15028290,14962103,12359730,10830953,12477932 386672 NM_198687,AL773602,CH471079,AB076351,AJ566382,BC125048,BC125049 NP_941960,EAX09416,BAD01538,AAI25049,AAI25050,P60372 Hs.567901 KAP10.4|KAP18-4|KRTAP10.4|KRTAP18-4|KRTAP18.4|MGC149545|MGC149546 high sulfur keratin-associated protein 10.4|keratin associated protein 18-4|keratin-associated protein 10-4|keratin-associated protein 10.4|keratin-associated protein 18-4|keratin-associated protein 18.4 protein-coding 1605518 KRTAP10-5 keratin associated protein 10-5 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq] 15489334,15028290,14962103,12477932,12359730,10830953 386680 NM_198694,AL773602,CH471079,AB076352,AJ566384,BC120949,BC120950 NP_941967,EAX09415,BAD01539,CAD97464,AAI20950,AAI20951,P60370 Hs.688629 KAP10.5|KAP18-5|KAP18.5|KRTAP10.5|KRTAP18-5|KRTAP18.1|KRTAP18.5 high sulfur keratin-associated protein 10.5|keratin-associated protein 10-5|keratin-associated protein 10.5|keratin-associated protein 18-5|keratin-associated protein 18.5 protein-coding 1349451 KRTAP10-6 keratin associated protein 10-6 15028290,14962103,12477932,12359730,10830953 386674 NM_198688,AL773602,CH471079,AB076353,BC140725 NP_941961,EAX09414,BAD01540,AAI40726,P60371,AAI60131 Hs.689666 KAP10.6|KAP18.6|KRTAP18-6|KRTAP18.6 high sulfur keratin-associated protein 10.6|keratin associated protein 18-6|keratin-associated protein 10-6|keratin-associated protein 10.6|keratin-associated protein 18-6|keratin-associated protein 18.6 protein-coding 1605522 KRTAP10-7 keratin associated protein 10-7 15028290,14962103,12477932,12359730,10830953 386675 NM_198689,AL773602,AP001067,CH471079,AB076354,AJ566385,BC119643 NP_941962,EAX09413,BAD01541,CAD97465,AAI19644,P60409 Hs.473999 KAP10.7|KAP18.7|KRTAP18-7 OTTHUMP00000063331|high sulfur keratin-associated protein 10.7|keratin associated protein 18-7|keratin-associated protein 10-7|keratin-associated protein 10.7|keratin-associated protein 18-7|keratin-associated protein 18.7 protein-coding 1342479 KRTAP10-8 keratin associated protein 10-8 15489334,15028290,12477932,10830953 386681 NM_198695,AL773602,CH471079,AB076355,BC127016 NP_941968,EAX09412,BAD01542,AAI27017,P60410 Hs.528021 KAP10.8|KRTAP18-8|KRTAP18.8 high sulfur keratin-associated protein 10.8|keratin associated protein 18-8|keratin-associated protein 10-8|keratin-associated protein 10.8|keratin-associated protein 18-8|keratin-associated protein 18.8 protein-coding 1605521 KRTAP10-9 keratin associated protein 10-9 15028290,14962103,10830953,12477932 386676 NM_198690,AL773602,CH471079,AB076356,AB076357,AJ566386,BC131613 NP_941963,EAX09411,BAD01543,BAD01544,CAD97466,AAI31614,P60411,Q76LM8 Hs.474000 KAP10.9|KAP18.9|KRTAP18-9 high sulfur keratin-associated protein 10.9|keratin associated protein 18-9|keratin-associated protein 10-9|keratin-associated protein 10.9|keratin-associated protein 18-9|keratin-associated protein 18.9 protein-coding 1350814 KRTAP11-1 keratin associated protein 11-1 1580863 15385554,12359730,10830953,12477932 337880 BC130555,AP000244,AB096963,AJ457065,NM_175858,BC130557 NP_787054,BAE46378,CAD29721,AAI30556,AAI30558,Q3LI55,Q8IUC1 Hs.407654 HACL-1|HACL1|KAP11.1 high sulfur keratin-associated protein 11.1|keratin-associated protein 11-1 protein-coding 1343627 KRTAP12-1 keratin associated protein 12-1 1580863 15489334,15028290,14962103,12477932,10830953 353332 NM_181686,AL773604,CH471079,AB076363,AJ566388,BC119713,BC120942,BC127648 NP_859014,EAX09405,BAD01550,CAD97468,AAI19714,AAI20943,AAI27649,P59990 Hs.688628 KAP12.1|KRTAP12.1 high sulfur keratin-associated protein 12.1|keratin-associated protein 12-1|keratin-associated protein 12.1 protein-coding 1352453 KRTAP12-2 keratin associated protein 12-2 1580863 15489334,15028290,14962103,12477932,10830953 353323 NM_181684,AL773602,CH471079,AB076362,AJ566389,BC120941 NP_859012,EAX09406,BAD01549,CAD97469,AAI20942,P59991 Hs.567902 KAP12.2|KRTAP12.2 OTTHUMP00000063332|high sulfur keratin-associated protein 12.2|keratin-associated protein 12-2|keratin-associated protein 12.2 protein-coding 1350615 KRTAP12-3 keratin associated protein 12-3 15028290,10830953 386683 NM_198697,AL773602,CH471079,AB076361 NP_941970,EAX09407,BAD01548,P60328,AAI60116 Hs.528023 KRTAP12.3 high sulfur keratin-associated protein 12.3|keratin-associated protein 12-3|keratin-associated protein 12.3 protein-coding 1347376 KRTAP12-4 keratin associated protein 12-4 15489334,15028290,10830953,12477932 386684 NM_198698,AL773602,CH471079,AB076360,BC125198 NP_941971,EAX09408,BAD01547,AAI25199,P60329 Hs.689664 KRTAP12.4|MGC150594 high sulfur keratin-associated protein 12.4|keratin-associated protein 12-4|keratin-associated protein 12.4 protein-coding 1343187 KRTAP13-1 keratin associated protein 13-1 Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM] 1580863 12477932,12359730,10830953 140258 NM_181599,AP000567,AP001708,CH471079,AB096939,AJ457066,BC113536,BC113538 NP_853630,EAX09899,BAE46354,CAD29722,AAI13537,AAI13539,Q8IUC0 Hs.407653 KAP13.1|KRTAP13.1 high sulfur keratin associated protein 13.1|high sulfur keratin-associated protein 13.1|keratin-associated protein 13-1 protein-coding 1345812 KRTAP13-2 keratin associated protein 13-2 15489334,12477932,12359730 337959 NM_181621,AP000885,AP001708,CH471079,AB096938,BC093934,BC093936,BX104478,W72002 NP_853652,EAX09900,BAE46353,AAH93934,AAH93936,Q52LG2 Hs.58152 KAP13-2 keratin-associated protein 13-2 protein-coding 1352819 KRTAP13-3 keratin associated protein 13-3 15489334,12477932,12359730 337960 NM_181622,AP000567,AP001708,AB096940,BC103965 NP_853653,BAE46355,AAI03966,Q3SY46 Hs.553687 KAP13.3|MGC119828 keratin-associated protein 13-3 protein-coding 1343476 KRTAP13-4 keratin associated protein 13-4 12359730,12477932 284827 NM_181600,AP000567,AP001708,AB096941,BC131691 NP_853631,BAE46356,AAI31692,Q3LI77 Hs.553677 KAP13.4 keratin-associated protein 13-4 protein-coding 1353317 KRTAP13P1 keratin associated protein 13 pseudogene 1 12359730,10830953 337964 NG_002667,AP000567,AP001708 KAP13A|KRTAP13P1 pseudo 1603508 KRTAP13P2 keratin associated protein 13 pseudogene 2 12359730 337965 NG_002668,AP000885 KAP13B|KRTAP13P2 pseudo 1322358 KRTAP15-1 keratin associated protein 15-1 15489334,12477932,12359730 254950 NM_181623,AP000567,AP001708,AB096942,BC104925,BC104927 Q3LI76,NP_853654,BAE46357,AAI04926,AAI04928 Hs.553654 KAP15.1 keratin-associated protein 15-1 protein-coding 1602313 KRTAP16-1 keratin associated protein 16-1 11279113,10830953,11181995,16625196 100288060 AC003958,NM_001146182,CH471152,XM_001719335,XM_001723358,XM_002343516 NP_001139654,A8MUX0,EAW60725,XP_001719387,XP_001723410,XP_002343557 Hs.721600 KAP16.1 putative keratin-associated protein 10-like ENSP00000375147 protein-coding 1343387 KRTAP17-1 keratin associated protein 17-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 20379614,18347808,15489334,12477932,11279113 83902 NM_031964,AC003958,CH471152,AJ406952,BC069078,BC069297 NP_114170,EAW60726,CAC27591,AAH69078,AAH69297,Q9BYP8,AAI46277,AAI46561 Hs.307009 KAP17.1|KRTAP16.1|KRTAP17.1 keratin associated protein 16.1|keratin-associated protein 16.1|keratin-associated protein 17-1 protein-coding 1344074 KRTAP19-1 keratin associated protein 19-1 1580863 12359730,10830953,12477932 337882 NM_181607,AP000567,AP001708,CH471079,AB096943,AJ457067,BC126284,BC126286 NP_853638,EAX09898,BAE46358,CAD29723,AAI26285,AAI26287,Q8IUB9,AAI46601,AAI48507 Hs.61552 KAP19.1 high tyrosine-glycine keratin-associated protein 19.1|keratin-associated protein 19-1 protein-coding 1349642 KRTAP19-2 keratin associated protein 19-2 12359730 337969 NM_181608,AP000567,AP001708,AB180041 NP_853639,BAE46380,Q3LHN2,AAI40342,AAI48696 Hs.553692 KAP19.2 keratin-associated protein 19-2 protein-coding 1345436 KRTAP19-3 keratin associated protein 19-3 12359730,12477932 337970 NM_181609,AP000567,AP001708,CH471079,AB096944,AF139541,BC126280,BC126282 NP_853640,EAX09897,BAE46359,AAP97270,Q7Z4W3,AAI48586,AAI48792 Hs.60480 GTRHP|KAP19.3 GTHRP|glycine/tyrosine-rich protein|keratin-associated protein 19-3 protein-coding 1347700 KRTAP19-4 keratin associated protein 19-4 15489334,12477932,12359730 337971 BC117199,AP000567,AP001708,AB096945,BC117197,NM_181610 AAI17200,Q3LI73,BAE46360,AAI17198,ADR82788,ADR83449,NP_853641 Hs.553693 KAP19.4 keratin-associated protein 19-4 protein-coding 1344454 KRTAP19-5 keratin associated protein 19-5 17353931,12359730,12477932 337972 NM_181611,AP000567,AP001708,AB096946,BC100836,BC100837,BC100838,BC100839,BC113020,BC113021 NP_853642,BAE46361,AAI00837,AAI00838,AAI00839,AAI00840,AAI13021,AAI13022,Q3LI72 Hs.553694 KAP19.5 keratin-associated protein 19-5 protein-coding 1353157 KRTAP19-6 keratin associated protein 19-6 12477932,12359730 337973 NM_181612,AP000567,AP001708,AB096947,AB096948,BC101813,BC101815 NP_853643,BAE46362,BAE46363,AAI01814,AAI01816,Q3LI70,AAI56857 Hs.553695 KAP19.6 KRTAP19-6-V1|KRTAP19-6-V2|keratin-associated protein 19-6 protein-coding 1346372 KRTAP19-7 keratin associated protein 19-7 15489334,12477932,12359730 337974 AB096949,BC103836,BC103837,BC103838,NM_181614,AP001069,AP001708 BAE46364,AAI03837,AAI03838,AAI03839,Q3SYF9,NP_853645 Hs.553696 KAP19.7|MGC118928 keratin-associated protein 19-7 protein-coding 2291778 KRTAP19-8 keratin associated protein 19-8 728299 NM_001099219,AP000245,AB096964 NP_001092689,BAE46379,Q3LI54 Hs.580875 keratin-associated protein 19-8 protein-coding 1603505 KRTAP19P1 keratin associated protein 19 pseudogene 1 12359730 337982 NG_002688,AP000567 KAP19A|KRTAP19P1 pseudo 1603504 KRTAP19P2 keratin associated protein 19 pseudogene 2 12359730 337983 NG_002689,AP000567 KAP19B|KRTAP19P2 pseudo 1603503 KRTAP19P3 keratin associated protein 19 pseudogene 3 12359730 337984 NG_002671,AP000567 KAP19C|KRTAP19P3 pseudo 1350262 KRTAP19P4 keratin associated protein 19 pseudogene 4 12359730,10830953 337985 NG_002672,AP001069,AP001708 KAP19D pseudo 1344432 KRTAP2-1 keratin associated protein 2-1 1580863 12477932,11279113,11181995 81872 NM_001123387,AC007455,AC100808,CH471152,AJ296345 NP_001116859,EAW60700,CAC24555,Q9BYU5 Hs.528921 KAP2.1A|KRTAP2.1A high sulfur keratin-associated protein 2.1|keratin associated protein KRTAP2.1A|keratin-associated protein 2-1|keratin-associated protein 2.1 protein-coding 1352995 KRTAP2-2 keratin associated protein 2-2 16625196,11279113,11181995 728279 NM_033032,AC025904,AC037482,AC100808,AJ302536 NP_149021,CAC27564 Hs.650131 KAP2.2 keratin associated protein 2-2 protein-coding 1351254 KRTAP2-3 keratin associated protein 2-3 16625196,11279113 85295 AC025904 P0C7H8 KAP2.3|KRTAP2.3 Keratin-associated protein 2-3|high sulfur keratin-associated protein 2.4|keratin associated protein 2-3|keratin-associated protein 2-3|keratin-associated protein 2.3 protein-coding 1343099 KRTAP2-4 keratin associated protein 2-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15489334,12477932,11279113 85294 NM_033184,AC025904,AC100808,CH471152,AJ406930,BC101147,BC101148,BC101149 NP_149440,EAW60703,CAC27569,AAI01148,AAI01149,AAI01150,Q9BYR9 Hs.560502 KAP2.4|KRTAP2.4|MGC119882|MGC119884|MGC119885|MGC74790 high sulfur keratin-associated protein 2.4|keratin-associated protein 2-4|keratin-associated protein 2.4 protein-coding 1344445 KRTAP20-1 keratin associated protein 20-1 15489334,12477932,12359730 337975 NM_181615,AP001069,AP001708,AB096955,BC104846,BC104872 NP_853646,BAE46370,AAI04847,AAI04873,Q3LI63 Hs.553697 KAP20.1 keratin-associated protein 20-1 protein-coding 1352336 KRTAP20-2 keratin associated protein 20-2 15489334,12477932,12359730 337976 NM_181616,AP001069,AP001708,AB096957,BC111084 BAE46372,AAI11085,Q3LI61,NP_853647 Hs.553698 KAP20.2|MGC133104 keratin-associated protein 20-2 protein-coding 2293213 KRTAP20-3 keratin associated protein 20-3 100151753 AB096958 BAE46373,Q3LI60 Hs.580878 KAP19D|KAP20.3|KRTAP19P4 protein-coding 2302448 KRTAP20-4 keratin associated protein 20-4 10830953 100151643 NR_023342,AP001069,AP001708 KAP20.4 miscrna 1346788 KRTAP21-1 keratin associated protein 21-1 15489334,12477932,12359730 337977 NM_181619,AP000243,AP001709,AB096960,BC046635,BC105029,BC105031 NP_853650,BAE46375,AAH46635,AAI05030,AAI05032,Q3LI58,Q3ZCR5 Hs.539723,Hs.567837 KAP21.1 keratin-associated protein 21-1 protein-coding 1349542 KRTAP21-2 keratin associated protein 21-2 12359730 337978 NM_181617,AP000243,AP001709,AB096959 NP_853648,BAE46374,Q3LI59,AAI56535,AAI57081 Hs.553699 KAP21.2 keratin-associated protein 21-2 protein-coding 2311719 KRTAP21-3 keratin associated protein 21-3 100288323 NM_001164435,AP000243,AB180042 NP_001157907,BAE46381,Q3LHN1 Hs.580877 OTTHUMP00000155194|keratin-associated protein 21-3 protein-coding 1603502 KRTAP21P1 keratin associated protein 21 pseudogene 1 12359730 337986 NG_002673,AP000243 KAP21A|KRTAP21P1 pseudo 1352120 KRTAP22-1 keratin associated protein 22-1 15489334,12477932,12359730 337979 NM_181620,AP001069,AP001708,AB096953,BC101682,BC101686 NP_853651,BAE46368,AAI01683,AAI01687,Q3MIV0 Hs.553700 KAP22.1|MGC126731|MGC126735 keratin-associated protein 22-1 protein-coding 2311721 KRTAP22-2 keratin associated protein 22-2 100288287 NM_001164434,AP001069,AB096950 NP_001157906,BAE46365,Q3LI68 Hs.580880 KAP22.2 keratin-associated protein 22-2 protein-coding 1354302 KRTAP23-1 keratin associated protein 23-1 12359730,12477932 337963 NM_181624,AP000885,AP001708,BC128435 NP_853655,AAI28436,A1A580 Hs.553688 KAP23.1 keratin-associated protein 23-1 protein-coding 2292073 KRTAP24-1 keratin associated protein 24-1 17235325,16939781 643803 NM_001085455,AP000884,AB096935,AM238513 NP_001078924,BAE46350,CAJ87483,Q3LI83 Hs.580883 KAP24.1 keratin-associated protein 24-1 protein-coding 2293249 KRTAP25-1 keratin associated protein 25-1 10830953 100131902 NM_001128598,AP000884,AP001707,AB180043 NP_001122070,BAE46382,Q3LHN0 Hs.580882 KAP25.1 OTTHUMP00000155133|keratin-associated protein 25-1 protein-coding 1603240 KRTAP26-1 keratin associated protein 26-1 15489334,12477932,17207965 388818 HC007104,HC044565,NM_203405,AP000885,AB096936,AM941740,BC057825,CB996254,CR602838 CBH19357,CBH30612,NP_981950,BAE46351,CAQ03502,AAH57825,Q6PEX3,ADQ32499 Hs.28704 MGC71787 keratin associated protein|keratin-associated protein 26-1 protein-coding 2292072 KRTAP27-1 keratin associated protein 27-1 643812 NM_001077711,AP000885,AB096937 NP_001071179,BAE46352,Q3LI81 Hs.580881 keratin-associated protein 27-1 protein-coding 1348270 KRTAP2P1 keratin associated protein 2 pseudogene 1 11279113 85343 NG_000939,AC025904,AC037482,AC100808 KAP2A|KRTAP2P1 pseudo 1314968 KRTAP3-1 keratin associated protein 3-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15489334,12477932,11279113 83896 NM_031958,AC007455,CH471152,CS300806,AJ406931,BC113077,BC113078 NP_114164,EAW60695,EAW60696,CAK32470,CAC27570,AAI13078,AAI13079,Q9BYR8 Hs.307027 KAP3.1|KRTAP3.1 high sulfur keratin-associated protein 3.1|keratin-associated protein 3-1|keratin-associated protein 3.1 protein-coding 1346288 KRTAP3-2 keratin associated protein 3-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 16189514,15489334,12477932,11279113 83897 NM_031959,AC007455,CH471152,AJ406932,BC034582 NP_114165,EAW60694,CAC27571,AAH34582,Q9BYR7,ABM83329,ABM86541 Hs.307026 KAP3.2|KRTAP3.2 high sulfur keratin-associated protein 3.2|keratin associated protein 3.2|keratin-associated protein 3-2|keratin-associated protein 3.2 protein-coding 1316737 KRTAP3-3 keratin associated protein 3-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 17207965,15489334,12477932,11279113 85293 NM_033185,AC007455,CH471152,AJ406933,BC069099,BC069448,BC093845,BC093847 ADQ32922,NP_149441,EAW60693,CAC27572,AAH69099,AAH69448,AAH93845,AAH93847,Q9BYR6 Hs.662759 KAP3.3|KRTAP3.3|MGC95374 high sulfur keratin-associated protein 3.3|keratin-associated protein 3-3|keratin-associated protein 3.3 protein-coding 1347025 KRTAP3P1 keratin associated protein 3 pseudogene 1 18077133,11279113,9427749 85345 NG_000941,AC007455 KAP3A|KRTAP3P1 pseudo 1349794 KRTAP4-1 keratin associated protein 4-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 15955084,15489334,12477932,11279113 85285 BC103846,NM_033060,AC006070,CH471152,AJ406942,BC065372,BC103845 AAI03846,AAI03847,Q9BYQ7,NP_149049,EAW60715,CAC27581 Hs.437079 KAP4.1|KAP4.10|KRTAP4-10|KRTAP4.10|MGC118980|MGC118981 keratin associated protein 4-10|keratin-associated protein 4-1|keratin-associated protein 4-10|keratin-associated protein 4.1|keratin-associated protein 4.10|ultrahigh sulfur keratin-associated protein 4.10 APPROVED protein-coding 1347351 KRTAP4-11 keratin associated protein 4-11 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 15955084,15489334,12477932,11279113,11181995 653240 NM_033059,AC025904,AC037482,AC100808,CH471152,AJ406944,BC126131,BC130562 NP_149048,EAW60708,CAC27583,AAI26132,AAI30563,Q9BYQ6 Hs.307015 KAP4.11|KAP4.14|KRTAP4-14|KRTAP4.14|MGC161409|MGC163434 keratin associated protein 4-14|keratin-associated protein 4-11|keratin-associated protein 4-14|keratin-associated protein 4.11|keratin-associated protein 4.14|ultrahigh sulfur keratin-associated protein 4.14 protein-coding 1343990 KRTAP4-12 keratin associated protein 4-12 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 16713569,16189514,15489334,12477932,11279113 83755 NM_031854,AC100808,CH471152,AJ406943,BC004180,BC004212,BC101159,BC101160,BC101161,BC101162 NP_114060,EAW60709,CAC27582,AAH04180,AAH04212,AAI01160,AAI01161,AAI01162,AAI01163,Q495H9,Q9BQ66,ABM84555,ABW03482 Hs.572443 KAP4.12|KRTAP4.12 keratin-associated protein 4-12|keratin-associated protein 4.12|ultrahigh sulfur keratin-associated protein 4.12 protein-coding 1354306 KRTAP4-13 keratin associated protein 4-13 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 11279113 85283 AJ296168 CAC27563 Hs.307022 KAP4.13|KRTAP4.13 protein-coding 1350812 KRTAP4-14 keratin associated protein 4-14 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85282 Q9BYQ6 BC130562,NM_033059,AC037482,CH471152,AJ406944,BC126131 AAI30563,Q9BYQ6,NP_149048,EAW60708,CAC27583,AAI26132 Hs.307015 KAP4.14|KRTAP4.14 protein-coding 1346065 KRTAP4-15 keratin associated protein 4-15 1580863 11279113 81871 XM_926610,XM_937152,AC100808,AJ406945 XP_931703,XP_942245,CAC27584,Q9BYQ5 Hs.307014 KAP4.15|KRTAP4.15 protein-coding 1352495 KRTAP4-2 keratin associated protein 4-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15489334,12477932,11279113 85291 NM_033062,AC006070,CH471152,AJ406934,BC127252 NP_149051,EAW60714,CAC27573,AAI27253,Q9BYR5 Hs.380165 KAP4.2|KRTAP4.2|MGC119940 keratin-associated protein 4-2|keratin-associated protein 4.2|ultrahigh sulfur keratin-associated protein 4.2 protein-coding 1344789 KRTAP4-3 keratin associated protein 4-3 1580863 11279113 85290 NM_033187,AC006070,CH471152,AJ406935 NP_149443,EAW60713,CAC27574,Q9BYR4 Hs.307023 KAP4.3 keratin-associated protein 4-3|keratin-associated protein 4.3|ultrahigh sulfur keratin-associated protein 4.3 protein-coding 1347393 KRTAP4-4 keratin associated protein 4-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15955084,11279113 84616 NM_032524,AC100808,CH471152,AJ296168,AJ406936 NP_115913,EAW60712,CAC27563,CAC27575,Q9BYR3,AAI56149,AAI56987 Hs.307022 KAP4.13|KAP4.4|KRTAP4-13|KRTAP4.13|KRTAP4.4 keratin associated protein 4-13|keratin associated protein 4.4|keratin-associated protein 4-13|keratin-associated protein 4-4|keratin-associated protein 4.13|keratin-associated protein 4.4|ultrahigh sulfur keratin-associated protein 4.13|ultrahigh sulfur keratin-associated protein 4.4 protein-coding 1351130 KRTAP4-5 keratin associated protein 4-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 20379614,11279113 85289 NM_033188,AC100808,CH471152,AJ406937 NP_149445,EAW60711,CAC27576,Q9BYR2,AAI60148 Hs.514863 KAP4.5|KRTAP4.5 keratin-associated protein 4-5|keratin-associated protein 4.5|ultrahigh sulfur keratin-associated protein 4.5 protein-coding 1353828 KRTAP4-6 keratin associated protein 4-6 1580863 85288 AJ406938,AC025904 CAC27577,Q9BYR1 Hs.307014 KAP4.15|KAP4.6|KRTAP4-15 protein-coding 1352061 KRTAP4-7 keratin associated protein 4-7 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 16625196,15489334,12477932,11279113,11181995 100132476 NM_033061,AC100808 NP_149050,A8MTL4 Hs.632746 KAP4.7|KRTAP4.7|MGC161699|MGC161701 OTTHUMP00000164949|Ultrahigh sulfur keratin-associated protein 4.7|putative keratin-associated protein 4-X protein-coding 1342775 KRTAP4-8 keratin associated protein 4-8 1580863 16625196,11279113,11181995 728224 NM_031960,AC025904,AC037482,AC100808,CH471152,AJ406940 NP_114166,EAW60705,CAC27579,Q9BYQ9 Hs.307019 KAP4.8|KRTAP4.8 OTTHUMP00000164947|keratin associated protein 4.8|keratin-associated protein 4-8|keratin-associated protein 4.8|ultrahigh sulfur keratin-associated protein 4.8 protein-coding 1347406 KRTAP4-9 keratin associated protein 4-9 1580863 11279113 100132386 NM_001146041,AC025904,AC037482,AC100808,CH471152,AJ406941 NP_001139513,EAW60707,CAC27580,Q9BYQ8 Hs.307018 KAP4.9 keratin-associated protein 4-9|keratin-associated protein 4.9|ultrahigh sulfur keratin-associated protein 4.9 protein-coding 1346080 KRTAP4P1 keratin associated protein 4 pseudogene 1 11279113 85354 NG_005311,AC025904,AC100808 KAP4A|KRTAP4P1 pseudo 1352638 KRTAP5-1 keratin associated protein 5-1 16442267,15144888,12234709 387264 NM_001005922,AP006285,AB126070 NP_001005922,BAD20197,Q6L8H4,AAI48863 Hs.632147 KRN1L|KRTAP5.1 keratin, cuticle, ultrahigh sulphur 1-like|keratin, hair cuticle, ultrahigh-sulfur, 1-like|keratin-associated protein 5-1|keratin-associated protein 5.1|ultrahigh sulfur keratin-associated protein 5.1 protein-coding 1351402 KRTAP5-10 keratin associated protein 5-10 15144888,12477932 387273 NM_001012710,AP000867,AB126079,BC137550,BC137566 NP_001012728,BAD20206,AAI37551,AAI37567,Q6L8G5 Hs.661887 KRTAP5.10 keratin-associated protein 5-10|keratin-associated protein 5.10|ultrahigh sulfur keratin-associated protein 5.10 protein-coding 1605177 KRTAP5-11 keratin associated protein 5-11 12477932,15144888 440051 NM_001005405,AP000867,AB126080,AJ628244,BC130498,BC130502 NP_001005405,BAD20207,Q6L8G4,AAI48464 Hs.679617 KRTAP5-5|KRTAP5-6|KRTAP5.11 keratin associated protein 5-5|keratin-associated protein 5-11|keratin-associated protein 5.11|ultrahigh sulfur keratin-associated protein 5.11 protein-coding 1351556 KRTAP5-2 keratin associated protein 5-2 15144888,12477932 440021 NM_001004325,AP006285,AB126071,AJ628245,BC132882,BC132908 NP_001004325,BAD20198,CAF31637,AAI32883,AAI32909,Q701N4,AAI46602,AAI56417 Hs.673618,Hs.633229 KRTAP5-8|KRTAP5.2 keratin-associated protein 5-2|keratin-associated protein 5-8|keratin-associated protein 5.2|keratin-associated protein 5.8|ultrahigh sulfur keratin-associated protein 5.2 protein-coding 1342991 KRTAP5-3 keratin associated protein 5-3 15144888 387266 NM_001012708,AP006285,AB126072,AJ628246,AY597812 NP_001012726,BAD20199,CAF31638,AAT09005,Q6L8H2,AAI48333,AAI48734 Hs.532471 KRTAP5-9|KRTAP5.3 UHS KerB-like|keratin-associated protein 5-3|keratin-associated protein 5-9|keratin-associated protein 5.3|keratin-associated protein 5.9|ultrahigh sulfur keratin-associated protein 5.3 protein-coding 1347838 KRTAP5-4 keratin associated protein 5-4 15144888 387267 NM_001012709,AC130310,AP006285,AB126073 NP_001012727,BAD20200,Q6L8H1,AAI46562,AAI48330 Hs.539087 KRTAP5.4 OTTHUMP00000063271|keratin-associated protein 5-4|keratin-associated protein 5.4|ultrahigh sulfur keratin-associated protein 5.4 protein-coding 1605485 KRTAP5-5 keratin associated protein 5-5 15144888 439915 NM_001001480,AP006285,AB126074,AJ628247 NP_001001480,BAD20201,CAF31639,Q701N2 Hs.653467,Hs.673618 KRTAP5-11|KRTAP5.5 keratin associated protein 5-11|keratin-associated protein 5-11|keratin-associated protein 5-5|keratin-associated protein 5.11|keratin-associated protein 5.5|ultrahigh sulfur keratin-associated protein 5.5 protein-coding 1605180 KRTAP5-6 keratin associated protein 5-6 15144888,12477932 440023 NM_001012416,AC068580,AB126075,BC130399,BC133035 NP_001012416,BAD20202,AAI30400,AAI33036,Q6L8G9 Hs.534863 KRTAP5.6 keratin-associated protein 5-6|keratin-associated protein 5.6|ultrahigh sulfur keratin-associated protein 5.6 protein-coding 1605178 KRTAP5-7 keratin associated protein 5-7 12477932,15144888 440050 NM_001012503,AP000867,AB126076,AJ628243,BC136967,BC136968 NP_001012521,BAD20203,CAF31636,AAI36968,AAI36969,Q6L8G8,AAI48791 Hs.710675 KRTAP5-3|KRTAP5.7 keratin-associated protein 5-3|keratin-associated protein 5-7|keratin-associated protein 5.3|keratin-associated protein 5.7|ultrahigh sulfur keratin-associated protein 5.7 protein-coding 1605356 KRTAP5-8 keratin associated protein 5-8 10023043,15144888 57830 NM_021046,AJ006692,AP000867,AB126077,AY360461,BX099510 NP_066384,CAA07188,BAD20204,AAQ62965,O75690,AAI60147 Hs.445245 KRTAP5-2|KRTAP5.8|UHSKerB UHS KERB-like protein|UHS KerB|UHS keratin B|keratin, ultra high-sulfur matrix protein B|keratin, ultrahigh sulfur, B|keratin-associated protein 5-8|keratin-associated protein 5.8|ultrahigh sulfur keratin-associated protein 5.8 protein-coding 1603711 KRTAP5-9 keratin associated protein 5-9 1703541,16344560,17207965,15489334,15144888,12477932,10023043,1724400 3846 NM_005553,AJ006693,AP000867,X55293,AB126078,BC069531,BC101744,DB339866,X63755 NP_005544,CAA07189,CAA39005,BAD20205,AAH69531,AAI01745,CAA45283,P26371,ADQ32902 Hs.709220 KRN1|KRTAP5-1|KRTAP5.9|MGC126793 UHS KerA|UHS keratin A|keratin, cuticle, ultrahigh sulfur 1|keratin, cuticle, ultrahigh sulphur 1|keratin, ultra high-sulfur matrix protein A|keratin-associated protein 5-9|keratin-associated protein 5.9|ultrahigh sulfur keratin-associated protein 5.9 protein-coding 1353361 KRTAP5P1 keratin associated protein 5 pseudogene 1 15144888 387275,387275 AP000867,NG_027924 KRTAP5.P1|KRTAP5P1 pseudo 1345328 KRTAP5P2 keratin associated protein 5 pseudogene 2 15144888 387276,387276 AP000867,NG_027925 KRTAP5.P2|KRTAP5P2 pseudo 1344528 KRTAP6-1 keratin associated protein 6-1 16780588,12477932,12359730 337966 BC104426,BC104427,NM_181602,AP001069,AP001708,AB096954 Q3LI64,AAI48583,AAI53092,NP_853633,BAE46369 Hs.194301,Hs.553689 C21orf103|KAP6.1 keratin-associated protein 6-1 protein-coding 1353226 KRTAP6-2 keratin associated protein 6-2 12359730 337967 NM_181604,AP001069,AP001708,AB096952 NP_853635,BAE46367,Q3LI66,AAI41489,AAI48772 Hs.553690 KAP6.2 keratin-associated protein 6-2 protein-coding 1352489 KRTAP6-3 keratin associated protein 6-3 12477932,12359730 337968 NM_181605,AP001069,AP001708,AB096951,BC101121,BC101122,BC118547,BC118624 NP_853636,BAE46366,AAI01122,AAI01123,AAI18548,AAI18625,Q3LI67,AAI60114 Hs.553691 KAP6.3 OTTHUMP00000063468|keratin-associated protein 6-3 protein-coding 1352307 KRTAP7-1 keratin associated protein 7-1 1580863 10830953,12359730 337878 NM_181606,AP000244,AP001709,AB096962,AJ457063 NP_853637,BAE46377,CAD29719,Q8IUC3 Hs.407656 KAP7.1 high tyrosine-glycine keratin-associated protein 7.1|keratin-associated protein 7-1 protein-coding 1354331 KRTAP8-1 keratin associated protein 8-1 1580863 12477932,12359730,10830953 337879 NM_175857,AP000244,CH471079,AB096961,AJ457064,BC130397,BC133033 NP_787053,EAX09896,BAE46376,CAD29720,AAI30398,AAI33034,Q8IUC2 Hs.407655 KAP8.1 high glycine-tyrosine keratin-associated protein 8.1|keratin-associated protein 8-1 protein-coding 1603507 KRTAP8P1 keratin associated protein 8 pseudogene 1 12359730 337980 NG_002669,AP000244 KAP8A|KRTAP8P1 pseudo 1603506 KRTAP8P2 keratin associated protein 8 pseudogene 2 12359730 337981 AP000244,NG_002670 KAP8B|KRTAP8P2 pseudo 1347378 KRTAP9-1 keratin associated protein 9-1 11279113,16625196 728318 AC006070,NM_001190460 A8MXZ3,NP_001177389 Hs.727478 KAP9.1|KRTAP9L3 Putative keratin-associated protein 9-2-like 3|keratin associated protein 9-like 3|keratin-associated protein 9-1|keratin-associated protein 9-2-like 3-like protein-coding 1350529 KRTAP9-2 keratin associated protein 9-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 17353931,12477932,11279113 83899 NM_031961,AC006070,CH471152,AJ406946,BC069560,BC110619,BC117287 NP_114167,EAW60718,CAC27585,AAI10620,AAI17288,Q6ISF6,Q9BYQ4,AAH69560 Hs.307013 KAP9.2|KRTAP9.2|MGC130013 keratin-associated protein 9-2|keratin-associated protein 9.2|ultrahigh sulfur keratin-associated protein 9.2 protein-coding 1347666 KRTAP9-3 keratin associated protein 9-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 17353931,15489334,12477932,11279113 83900 NM_031962,AC006070,CH471152,AJ406947,BC074918,BC074919 NP_114168,EAW60719,CAC27586,AAH74918,AAH74919,Q9BYQ3 Hs.307012 KAP9.3|KRTAP9.3 keratin associated protein 9.3|keratin-associated protein 9-3|keratin-associated protein 9.3|ultrahigh sulfur keratin-associated protein 9.3 protein-coding 1346768 KRTAP9-4 keratin associated protein 9-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15489334,12477932,11279113 85280 NM_033191,AC006070,CH471152,AJ406948,BC121094 NP_149461,EAW60721,CAC27587,AAI21095,Q9BYQ2 Hs.528700 KAP9.4|KRTAP9.4 keratin-associated protein 9-4|keratin-associated protein 9.4|ultrahigh sulfur keratin-associated protein 9.4 protein-coding 1353120 KRTAP9-5 keratin associated protein 9-5 1580863 11279113 85279 Q9BYQ1 XM_926671,XM_937223,AC006070,AJ406949 XP_931764,XP_942316,CAC27588,Q9BYQ1 Hs.307010 KAP9.5 protein-coding 1352438 KRTAP9-6 keratin associated protein 9-6 11279113 85278 AC006070 KAP9.6 keratin associated protein 9-6 protein-coding 1349870 KRTAP9-7 keratin associated protein 9-7 11279113 85277 AC006070 KAP9.7 keratin associated protein 9-7 protein-coding 1348121 KRTAP9-8 keratin associated protein 9-8 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 15489334,12477932,11279113 83901 NM_031963,AC006070,CH471152,AJ406950,BC074981,BC074982 NP_114169,EAW60720,CAC27589,AAH74981,AAH74982,Q9BYQ0 Hs.307011 KAP9.8|KRTAP9.8 keratin associated protein 9.8|keratin-associated protein 9-8|keratin-associated protein 9.8|ultrahigh sulfur keratin-associated protein 9.8 protein-coding 1343161 KRTAP9-9 keratin associated protein 9-9 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq] 1580863 11279113 81870 NM_030975,AC006070,AJ406949,AJ406951 NP_112237,CAC27588,CAC27590,Q9BYP9 Hs.722077 KAP9.5|KAP9.9|KRTAP9-5|KRTAP9.9 keratin-associated protein 9-5|keratin-associated protein 9-9|keratin-associated protein 9.5|ultrahigh sulfur keratin-associated protein 9.9 protein-coding 2800936 KRTAP9L1 keratin associated protein 9-like 1 16625196 728341 AC006070,XM_001719339 A8MTY7,XP_001719391 Putative keratin-associated protein 9-2-like 1|keratin associated protein 9-like 1|keratin-associated protein 9-2-like 1-like protein-coding 2799203 KRTAP9L2 keratin associated protein 9-like 2 16625196 732428 AC006070,XM_001714679 A8MVA2,XP_001714731 Putative keratin-associated protein 9-2-like 2|keratin associated protein 9-like 2|keratin-associated protein 9-2-like 2-like protein-coding 1353696 KRTAP9P1 keratin associated protein 9 pseudogene 1 11279113 85347 NG_000942,AC006070 KAP9A|KRTAP9P1 pseudo 1318165 KRTCAP2 keratinocyte associated protein 2 737633,1580863 16710414,15835887,15489334,14702039,12752121,12477932 737633 200185 NM_173852,AL607067,AK024167,AK311907,AY157577,BC029806,BC048205,BC057233,BX647396 NP_776251,CAH71196,BAG51267,BAG34848,AAO13161,AAH29806,AAH48205,AAH57233,Q8N6L1,ABM81719,ABM84874 Hs.516671,Hs.704676 KCP2 KCP-2|keratinocyte-associated protein 2|keratinocytes associated protein 2 protein-coding 1342898 KRTCAP3 keratinocyte associated protein 3 12752121,12477932,16712791,16341674,15489334 200634 BM794111,CB160871,NM_001168364,NM_173853,AC074117,CH471053,AY157576,AY358993,BC101687,BC101689,BC143574 NP_001161836,NP_776252,AAY14848,EAX00576,EAX00577,AAO13160,AAQ89352,AAI01688,AAI01690,AAI43575,Q53RY4 Hs.59509 KCP3|MGC126736|MGC126738|MRV222|PRO9898 KCP-3|OTTHUMP00000200820|keratinocyte-associated protein 3|keratinocytes associated protein 3 protein-coding 1603836 KRTDAP keratinocyte differentiation-associated protein 16381901,15489336,15140226,12975309,12477932,11076863,11054531,7566098 388533 NM_207392,AD001502,AY359007,BC130501 ADR83458,NP_997275,AAQ89366,AAI30502,P60985,CAL37452,CAL37545,CAL37550,CAL37616,CAL37725,CAL37729,CAL38275,CAL38354 Hs.112457 KDAP|MGC163373|UNQ467 KIPV467|keratinocyte differentiation-associated protein protein-coding 1317686 KSR1 kinase suppressor of ras 1 2293880 14724641,8521512,19188442,18719367,18426801,18332145,17081983,16732322,16625196,15899786,15520853,15489334,12477932,12007434,10764733,11741534,11940661,12105213,15520859,19718030,20379614,9115393,9858547 2293880 8844 NM_014238,AC015688,AC069366,CH471159,AK130719,BC035488,BC037586,BC042106,BI829205,BX396814,U43586 NP_055053,EAW51034,EAW51035,BAC85413,AAH42106,AAC50354,Q6ZNT2,Q8IVT5,AAI67812 Hs.133534 KSR|RSU2 OTTHUMP00000162931|kinase suppressor of Ras 1 protein-coding 1351357 KSR2 kinase suppressor of ras 2 19913121,20628086,17599832,16039990,15489334,14702039,12975377,12477932,12471243,19260141,19563921,20379614 283455 NM_173598,AC073864,AC079127,AC092936,AC127166,CH471054,CQ893713,AK098831,AY345972,BC107106,BC107107,BC127603,BX648958,DW009880,DW009881,AC084291 NP_775869,EAW98111,EAW98112,CAH68720,BAC05426,AAQ24226,AAI07107,AAI07108,AAI27604,Q6VAB6 Hs.375836 FLJ25965 hKSR2|kinase suppressor of Ras 2|kinase suppressor of Ras-2 protein-coding 1352277 KSS Kearns-Sayre syndrome 3894 1604326 KTELC1 KTEL (Lys-Tyr-Glu-Leu) containing 1 16524674,16303743,15489334,15342556,17207965,12975309,12477932,9373149,8125298,19822096,20143914,20190752 56983 NM_152305,AC073352,AC074271,CH471052,CS051265,AF168711,AK027012,AK075444,AK126736,AK222937,AK295984,AK301002,AK315367,AY298903,AY358581,BC030614,BC048810,BP347179,CD517010,CR622651,NR_024265 NP_689518,EAW79570,CAI72128,AAF87313,BAC11625,BAD96657,BAG58759,BAG62621,BAG37760,AAP56253,AAQ88944,AAH30614,AAH48810,Q8NBL1,Q9NRV2,ADQ31708 Hs.231750 C3orf9|CLP46|KDELCL1|KTELC1|MDS010|MDSRP|MGC32995|Rumi|hCLP46 9630046K23Rik|CAP10-like 46 kDa protein|CAP10-like protein, 46 kDa|KDELC family like 1|KTEL (Lys-Tyr-Glu-Leu) containing 1|KTEL motif-containing protein 1|myelodysplastic syndromes relative protein|x 010 protein protein-coding 1603926 KTI12 KTI12 homolog, chromatin associated (S. cerevisiae) 12477932,11929532 112970 NM_138417,AL445685,CH471059,AF327348,AK313746,BC012173,BI909162,CR599183,CR604251,CR609009 NP_612426,CAI17029,EAX06801,AAL56009,BAG36486,AAH12173,Q96EK9,ABM83165,ABM86365 Hs.655082 MGC20419|RP11-91A18.3|SBBI81|TOT4 protein KTI12 homolog protein-coding 1343201 KTN1 kinectin 1 (kinesin receptor) Various cellular organelles and vesicles are transported along the microtubules in the cytoplasm. Likewise, membrane recycling of the endoplasmic reticulum (ER), Golgi assembly at the microtubule organizing center, and alignment of lysosomes along microtubules are all related processes. The transport of organelles requires a special class of microtubule-associated proteins (MAPs). One of these is the molecular motor kinesin (see MIM 148760 and MIM 600025), an ATPase that moves vesicles unidirectionally toward the plus end of the microtubule. Another such MAP is kinectin, a large integral ER membrane protein. Antibodies directed against kinectin have been shown to inhibit its binding to kinesin.[supplied by OMIM] 20936779,7787243,18029348,17081983,17013387,16950774,16890462,16344560,15489334,14743216,14702039,12773547,12508121,12477932,11973345,11689693,11329013,10913441,10850414,10692099,9605849,9535835,8769096,8575822,8039706,7787244,7584028,7584026,11162552,12773565,19472918,19615732,20379614 3895 AL138499,CH471061,AK055870,AK124180,AK125499,AK302797,AK308272,AK309840,AY264265,AY536375,BC050555,BC058736,BC066337,BC104648,BC112337,BC117132,BC143720,BG206718,BQ014936,BX537523,BX537639,D13629,DA452468,DA769269,L25616,Z22551,NM_001079522,NM_001079521,NM_004986,NM_182926,AK300703 EAW80681,EAW80682,EAW80683,EAW80684,EAW80685,BAG51588,BAG54208,BAG64000,AAP20418,AAT66048,AAH50555,AAH58736,AAH66337,NP_004977,AAI04649,AAI12338,AAI17133,AAI43721,BAA02794,AAB65853,CAA80271,Q17RZ5,Q3SWV9,Q5GGW3,Q6NZ46,Q6PDF7,Q86UP2,NP_891556,NP_001072990,NP_001072989,BAH13329 Hs.509414 CG1|KIAA0004|KNT|MGC133337|MU-RMS-40.19 CG-1 antigen|OTTHUMP00000179011|OTTHUMP00000179013|kinectin|kinesin receptor protein-coding 1350027 KWE keratolytic winter erythema (Oudtshoorn skin disease) 9311742 3896 1313421 KY kyphoscoliosis peptidase 20379614,16344560,15385448,14702039,12477932 339855 NM_178554,AC016931,AC109912,CH471052,AF086360,AK090526,AK126993,AK293840,AK294500,BC024014,BC037842,BC136349,DA212239,DA238247 NP_848649,EAW79131,EAW79132,EAW79133,BAC03471,BAC86780,BAH11610,BAG57718,Q8NBH2 Hs.146730 FLJ33207 OTTHUMP00000216502|OTTHUMP00000216503|kyphoscoliosis peptidase protein-coding 734173 KYNU kynureninase (L-kynurenine hydrolase) Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 70787,1580863,2290313,2290312,2303721 9180257,11985583,17334708,9291104,1939450,6468727,16080802,12477932,9373149,8706755,8125298,16712791,17207965,14704851,20379614,20877624 70787,2290313,2290312,2303721 8942 NM_001032998,AC013437,AC013444,CH471058,AK223426,AK290900,AK292095,AK315343,AL548658,AW296221,BC000879,CR457423,CR592463,CR609484,CR615056,U57721,NM_003937,NG_023254,AW290980,CB151988,NM_001199241 NP_003928,NP_001028170,AAX93159,AAY14727,EAX11599,EAX11600,EAX11601,BAD97146,BAF83589,BAF84784,BAG37742,AAH00879,CAG33704,AAC50650,Q16719,Q53F63,Q53SY0,Q9BVW3,Q53SX6,ADQ32345,NP_001186170 Hs.470126 OTTHUMP00000204304|kynureninase|kynureninase (L-kynurenine hydrolase)|l-kynurenine hydrolase protein-coding 4889239 KYNUP1 kynureninase pseudogene 1 729321 AC007952,NG_022445 pseudo 4889240 KYNUP2 kynureninase pseudogene 2 729310 AC007952,NG_022458 pseudo 4889238 KYNUP3 kynureninase pseudogene 3 729323 AC106017,NG_022459 pseudo 1352608 L1CAM L1 cell adhesion molecule The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. [provided by RefSeq] 1580863 9521424,7920659,1769655,19435915,19414364,19401151,19343046,19273627,19260824,19165527,19086053,19018795,18972120,18931829,18847309,18701456,18676824,18555990,18483249,18386459,18332088,18090124,18059459,17952127,17873897,17699774,17420921,17328266,17294222,17211730,17081983,16816908,16650578,16650080,16506207,16401420,16400320,16335952,16229685,16020776,16000162,15820228,15790807,15772651,15716380,15609076,15489334,15368500,15148591,15146195,15128735,14718570,14657231,9268105,9479034,9300653,9195224,9118141,8956051,8947027,8929944,8898967,8663493,8592152,8556302,8509458,8401576,7920660,7881431,7762552,7595520,7562969,7513709,3136168,2387585,1993895,1932117,1923824,1870106,1627459,1303258,16169070,9837910,15647482,20237819,20501614,20799950,12957823,12942088,12777533,12725590,12524354,12490317,12477932,12435569,12139915,12070130,11897831,11857550,11770884,11438988,11425011,11393533,11222639,10934197,10871287,10805190,10797421,10611478,10495434,9832558,9832035,9744477,9570805,19913121,20628086,20447653,12082080,20811670,12558975,19565280,19617634,19639167,19641926,19661372,19720049,19787228,19920102,20940017,20501702 3897 AY167703,AY167704,AY167705,AY167706,AY167707,AY167708,AY167709,AY167710,AY167711,AY167712,AY167713,AY167714,AY167715,AY167716,AY167717,AY167718,AY167719,AY167702,AY167720,AB101966,AB101967,AB101968,AB101969,AB101970,AB101981,AB101982,AB101983,AB101984,AB101985,AB101986,AB101987,AB101988,AB101989,AB101990,AB101991,AB101992,AB101993,AB101994,AB101995,AB101996,AB101997,AB101998,AB101999,AB102000,AB102011,AB102012,AB102013,AB102014,AB102015,AB102016,AB102017,AB102018,AB102019,AB102020,AB102021,AB102022,AB102023,AB102024,AB102025,AB102026,AB102027,AB102028,AB102029,AB102030,AB102041,AB102042,AB102043,AB102044,AB102045,AB102046,AB102047,AB102048,AB102049,AB102050,AB102051,AB102052,AB102053,AB102054,AB102055,AB102056,AB102057,AB102058,AB102059,AB102060,AB102071,AB102072,AB102073,AB102074,AB102075,AB102076,AB102077,AB102078,AB102079,AB102080,AB102081,AB102082,AB102083,AB102084,AY167721,AY167722,AY167723,AY167724,AY167725,AY167726,CH471172,DQ173589,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173597,DQ173598,DQ173599,DQ173600,DQ173601,DQ173602,AB102085,AB102086,AB102087,AB102088,AB102089,AB102090,AB102101,AB102102,AB102103,AB102104,AB102105,AB102106,AB102107,AB102108,AB102109,AB102110,AB102111,AB102112,AB102113,AB102114,AB102115,AB102116,AB102117,AB102118,AB102119,AB102120,NM_001143963,NM_024003,NM_000425,NG_009645,AB101921,AB101922,AB101923,AB101924,AB101925,AB101926,AB101927,AB101928,AB101929,AB101930,AB101931,AB101932,AB101933,AB101934,AB101935,AB101936,AB101937,AB101938,AB101939,AB101940,AB101951,AB101952,AB101953,AB101954,AB101955,AB101956,AB101957,AB101958,AB101959,AB101960,AB101961,AB101962,AB101963,AB101964,AB101965,AY167680,AY167681,AY167682,AY167683,AY167684,AY167685,AY167686,AY167687,AY167688,AY167689,AY167690,AY167691,AY167692,AY167693,AY167694,AY167695,AY167696,AY167697,AY167698,AY167699,AY167700,AY167701,DQ173603,DQ173604,DQ173605,DQ173606,DQ173607,DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,DQ173613,DQ173614,DQ173615,DQ173616,DQ173617,DQ173618,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173631,DQ173632,DQ173633,DQ173634,DQ173635,DQ173636,DQ173637,DQ173638,DQ173639,DQ173640,DQ173641,DQ173642,X58775,X67912,Z29373,AB102653,AK289754,AY927629,BC025843,BC126229,BC136447,CR603016,EF506611,M55271,M74387,M77640,X58776,X59847 ABC25869,AAO17605,AAO17606,AAO17607,AAO17608,AAO17609,AAO17610,AAO17611,AAO17612,AAO17613,AAO17614,AAO17615,AAO17616,AAO17617,AAO17618,AAO17619,AAO17620,AAO17621,AAO17622,BAC80525,BAC80526,BAC80527,BAC80528,BAC80529,BAC80540,BAC80541,BAC80542,BAC80543,BAC80544,BAC80545,BAC80546,BAC80547,BAC80548,BAC80549,BAC80550,BAC80551,BAC80552,BAC80553,BAC80554,BAC80555,BAC80556,BAC80557,BAC80558,BAC80559,BAC80570,BAC80571,BAC80572,BAC80573,BAC80574,BAC80575,BAC80576,BAC80577,BAC80578,BAC80579,BAC80580,BAC80581,BAC80582,BAC80583,BAC80584,BAC80585,BAC80586,BAC80587,BAC80588,BAC80589,BAC80600,BAC80601,BAC80602,BAC80603,BAC80604,BAC80605,BAC80606,BAC80607,BAC80608,BAC80609,BAC80610,BAC80611,BAC80612,BAC80613,BAC80614,BAC80615,BAC80616,BAC80617,BAC80618,BAC80619,BAC80630,BAC80631,BAC80632,BAC80633,BAC80634,BAC80635,BAC80636,BAC80637,BAC80638,BAC80639,BAC80640,BAC80641,BAC80642,BAC80643,AAO17623,AAO17624,AAO17625,AAO17626,AAO17627,AAO17628,AAO17629,EAW72787,EAW72788,EAW72789,ABB58724,ABC25730,ABC25735,ABC25740,ABC25745,ABC25750,ABC25755,ABC25759,ABC25764,ABC25769,ABC25774,ABC25779,BAC80644,BAC80645,BAC80646,BAC80647,BAC80648,BAC80649,BAC80660,BAC80661,BAC80662,BAC80663,BAC80664,BAC80665,BAC80666,BAC80667,BAC80668,BAC80669,BAC80670,BAC80671,BAC80672,BAC80673,BAC80674,BAC80675,BAC80676,BAC80677,BAC80678,NP_001137435,NP_076493,NP_000416,BAC80480,BAC80481,BAC80482,BAC80483,BAC80484,BAC80485,BAC80487,BAC80488,BAC80489,BAC80490,BAC80491,BAC80492,BAC80493,BAC80494,BAC80495,BAC80496,BAC80497,BAC80498,BAC80499,BAC80510,BAC80511,BAC80512,BAC80513,BAC80514,BAC80515,BAC80516,BAC80517,BAC80486,BAC80518,BAC80519,BAC80520,BAC80521,BAC80522,BAC80523,BAC80524,BAC80679,AAO17583,AAO17584,AAO17585,AAO17586,AAO17587,AAO17588,AAO17589,AAO17590,AAO17591,AAO17592,AAO17593,AAO17594,AAO17595,AAO17596,AAO17597,AAO17598,AAO17599,AAO17600,AAO17601,AAO17602,AAO17603,AAO17604,ABC25784,ABC25789,ABC25794,ABC25799,ABC25804,ABC25809,ABC25814,ABC25819,ABC25824,ABC25829,ABC25834,ABC25839,ABC25844,ABC25849,ABC25854,ABC25859,ABC25864,ABC25874,ABC25879,ABC25884,ABC25889,ABC25894,ABC25899,ABC25904,ABC25909,ABC25914,ABC25919,ABC25924,ABC25929,ABC25934,ABC25939,ABC25944,ABC25949,ABC25954,ABC25959,ABC25964,ABC25969,ABC25974,ABC25979,CAA41576,CAA82564,BAC81122,BAF82443,AAH25843,AAI26230,AAI36448,ABP88252,AAA36353,AAA59476,AAC14352,CAB37831,CAA42508,P32004,Q7Z2F9,Q7Z2H2,Q7Z2I3,Q7Z2J0,Q7Z2J6,Q7Z2J8,Q7Z2J9,Q7Z3Z9,Q86SE4 Hs.522818 CAML1|CD171|HSAS|HSAS1|MASA|MIC5|N-CAML1|S10|SPG1 N-CAM-L1|NCAM-L1|OTTHUMP00000025992|OTTHUMP00000063091|antigen identified by monoclonal antibody R1|neural cell adhesion molecule L1 protein-coding 1603640 L1TD1 LINE-1 type transposase domain containing 1 18842996,15146197,14702039,12477932,8889548 54596 AL162739,CH471059,AB211065,AK001746,NM_019079,AK001973,AL834314,BC012555,BC060808,BC111559,BQ429140,BU677875,BX382228,CN428323,DR005055,CX166941,CX167172,NM_001164835 NP_061952,CAI19299,EAX06590,BAD95492,BAA91878,BAA92011,CAD38984,AAI11560,Q5T7N2,NP_001158307 Hs.685462 ECAT11|FLJ10884|MGC133253|RP5-1155K23.3 ES cell-associated protein 11|LINE-1 type transposase domain-containing protein 1|OTTHUMP00000010477 protein-coding 1314761 L2HGDH L-2-hydroxyglutarate dehydrogenase This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. 16005139,18362286,17876720,16134148,15548604,15489334,15385440,14702039,12477932,8241290,6787330,20020533,20052767,20852250,20727073,20877624,18671189,19911013 79944 NG_008092,AL109758,AL359397,CH471078,AK022680,AK292627,AK309294,AY757363,BC006117,CA424871,NM_024884 NP_079160,EAW65725,BAB14174,BAF85316,AAV52330,AAH06117,Q9H9P8 Hs.256034 C14orf160|DURANIN|FLJ12618 2-hydroxyglutarate dehydrogenase|L-2-hydroxyglutarate dehydrogenase, mitochondrial|L-alpha-hydroxyglutarate dehydrogenase|alpha-hydroxyglutarate oxidoreductase|alpha-ketoglutarate reductase protein-coding 1344736 L3MBTL l(3)mbt-like (Drosophila) This gene encodes the homolog of a protein identified in Drosophila as a suppressor of malignant transformation of neuroblasts and ganglion-mother cells in the optic centers of the brain. This gene product is localized to condensed chromosomes in mitotic cells. Overexpression of this gene in a glioma cell line results in improper nuclear segregation and cytokinesis producing multinucleated cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 15566354,18474616,11549316,10737800,10445843,9734811,17540172,18408754,18042461,18026117,15489334,15334543,15123827,12588862,12477932,12842041,11780052,16344560,8889548,19144645,20585043,20870725 26013 NM_032107,NM_015478,NG_009238,AL031681,CH471077,Z98752,AB014581,AK123176,AK299199,AK308334,AK310345,AL110279,BC034398,BC039820,BI040370,CR622260,R42592,BG956397,BU741824,DA204976,DR003568 NP_115479,NP_056293,CAI23042,CAI23043,EAW75957,EAW75958,EAW75959,EAW75960,EAW75961,EAW75962,CAC16800,CAC18508,CAI42311,CAI42317,CAI42318,BAA31656,BAC85548,BAG61241,CAB53714,AAH39820,Q5H8Y9,Q6ZWF5,Q9Y468,ABZ92019 Hs.709356 DKFZp586P1522|FLJ41181|H-L(3)MBT|KIAA0681|L3MBTL|L3MBTL1|dJ138B7.3 OTTHUMP00000031022|OTTHUMP00000031026|l(3)mbt protein homolog|lethal (3) malignant brain tumor l(3)|lethal(3)malignant brain tumor-like protein protein-coding 1318418 L3MBTL2 l(3)mbt-like 2 (Drosophila) 1580863 18029348,19233876,16381901,16189514,15489336,15489334,15461802,14702039,12477932,12004135,11682070,11230166,11076863,10591208,11256614,17540172,19241375 83746 AL035658,AL035681,CH471095,AJ305226,AJ305227,AK056443,AK057177,AK074091,AK097052,AK307763,AL136564,BC017191,BU184979,CR456482,NM_031488 NP_113676,CAI23036,CAI22654,EAW60410,EAW60411,EAW60412,EAW60413,EAW60414,EAW60415,EAW60416,CAC37794,CAC37795,BAG51710,BAB84917,BAC04936,CAB66499,AAH17191,CAG30368,Q969R5,CAL37685,CAL38517,CAK54463,CAK54762,ABM83238,ABM86438 Hs.517641 H-l(3)mbt-l|L3MBT H-l(3)mbt-like protein 2|L(3)mbt-like protein 2|OTTHUMP00000198764|lethal(3)malignant brain tumor-like protein 2 protein-coding 1313522 L3MBTL3 l(3)mbt-like 3 (Drosophila) 18391951,17081983,15889154,15489334,14702039,14574404,12477932,11347906,16344560,20211142,20881960 84456 NM_032438,NM_001007102,AL355581,AL356579,AL583846,CH471051,AB058701,AK092756,AK094137,AK290219,BC060845,CF529850,AI123736,DA927626,DB059438 NP_115814,NP_001007103,CAI95325,EAW48073,EAW48074,BAB47427,BAF82908,AAH60845,Q96JM7,ABZ92070,CAH73677,ADR82676 Hs.658051 MBT-1|MBT1|RP11-73O6.1 H-l(3)mbt-like protein 3|OTTHUMP00000017192|l(3)mbt-like protein 3|lethal(3)malignant brain tumor-like protein 3 protein-coding 1353313 L3MBTL4 l(3)mbt-like 4 (Drosophila) 737633,1580863 8889548,2444974,14702039,12477932,19913121,20628086,20379614,20698951,20694011 737633 91133 NM_173464,AP000874,AP001021,AP005060,AP005228,CH471113,AK026733,AK091075,AK093255,BC039316,CA313345,DB455331 NP_775735,EAX01639,EAX01640,BAG52277,BAC04111,AAH39316,Q8NA19 Hs.128279 HsT1031 H-l(3)mbt-like protein 4|OTTHUMP00000162322|l(3)mbt-like protein 4|lethal(3)malignant brain tumor-like protein 4 protein-coding 1349497 LACE1 lactation elevated 1 This gene encodes a protein with possible ATPase function. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. [provided by RefSeq] 20379614,20877624,18237552,12477932,12079282,19913121,20628086,20872768 246269 NM_145315,AL139106,AL162721,AL353706,AL356121,CH471051,Z98742,AF520418,AL832793,BC018445 NP_660358,CAI95701,CAI95698,CAI95324,EAW48375,EAW48376,EAW48377,CAI95645,AAM74228,AAH18445,Q8WV93 Hs.259666 AFG1 ATPase family gene 1 homolog|CG8520 gene product|OTTHUMP00000196344|lactation elevated protein 1 protein-coding 1344511 LACRT lacritin The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq] 17850790,18334948,18840430,19714880,19770725,17207965,20375347,16982797,16923831,16865190,16740002,16488965,15952718,15851553,15489334,14574570,12613904,12477932,11419941 90070 NM_033277,AC079310,AY005150,CH471054,CS072263,AF238867,BC062217,BC069317 ADQ32912,NP_150593,AAG32949,EAW96793,CAI93401,AAG44392,AAH62217,AAH69317,Q9GZZ8 Hs.307096 MGC71934 extracellular glycoprotein lacritin protein-coding 1312433 LACTB lactamase, beta This gene encodes a protein from the large 39S subunit of the mitochondrial ribosome (mitoribosome). The encoded protein has some sequence similarity to prokaryotic beta-lactamases but most of the residues that are responsible for the beta-lactamase activity are not conserved between the two proteins. [provided by RefSeq] 1580863 18538381,17517902,17081983,15489334,14702039,12975309,12477932,12164938,11707067,11551941,20877624 114294 NM_032857,NM_171846,AC087612,CH471082,AK027808,AY358709,BC037198,BC067288,BG250900,BU624474,CR591560,CR602675,CR617302,CR618824 NP_116246,NP_741982,EAW77637,EAW77638,BAB55384,AAQ89072,AAH67288,P83111 Hs.410388 FLJ14902|G24|MRPL56 mitochondrial 39S ribosomal protein L56|mitochondrial ribosomal protein L56|serine beta lactamase-like protein LACTB|serine beta-lactamase-like protein LACTB, mitochondrial protein-coding 1317324 LACTB2 lactamase, beta 2 12477932,10810093,9373149,20877624,8125298 51110 NM_016027,AC022731,CH471068,AF151841,AK222699,AK290201,BC000878,BC008505,CR623519,DB445101 NP_057111,EAW86969,EAW86970,AAD34078,BAD96419,BAF82890,AAH00878,Q53H82,ACE87314,ACE86632 Hs.118554 CGI-83 beta-lactamase-like protein 2 protein-coding 3077861 LACTBL1 lactamase, beta-like 1 16710414 646262 AL035704,XM_001130038,XM_001715024,XM_002342035 A8MY62,XP_001130038,XP_001715076,XP_002342076 Hs.722768 OTTHUMP00000203816|Putative beta-lactamase-like protein ENSP00000383859|beta-lactamase-like protein ENSP00000383859-like|lactamase, beta-like 1 protein-coding 1321680 LAD1 ladinin 1 The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq] 1580863 9119369,16083285,12477932,9804354,9665393,8983017,8618014,8618013,15778465 3898 NM_005558,AC119427,CH471067,U58994,AK310917,AK313388,BC009742,BC071890,BX647307,U42408 NP_005549,EAW91363,EAW91364,AAD10849,BAG36186,AAH09742,AAH71890,CAH56166,AAB58817,O00515,Q63HQ8,Q6IPJ9,ABM84582,ABM86734 Hs.519035 LadA|MGC10355 lad-1|ladinin-1|linear IgA bullous dermatosis antigen|linear IgA disease antigen homolog protein-coding 1344873 LAG3 lymphocyte-activation gene 3 Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq] 1580863 20568250,1692078,9159144,18322184,17020785,16757686,16519819,15674389,14644131,12825348,12775570,12477932,11937541,11592063,10545478,9780176,9634475,9382927,8097522,1380059,19773279,20237496,20331378,20385810,20421648,20228263 3902 NM_002286,AC125494,CH471116,X51984,Y10211,Y13537,Y13586,AA687676,AI274900,AK292104,BC037962,BC052589,X51985,A21353 NP_002277,EAW88740,EAW88741,CAA36242,CAA73914,BAF84793,AAH52589,CAA36243,P18627,Q7Z643,CAA01547 Hs.409523 CD223 lymphocyte activation gene 3 protein protein-coding 1602901 LAGE3 L antigen family, member 3 This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq] 17353931,15772651,15489334,12477932,12384295,8786131,8733135,17207965 8270 NM_006014,BX936365,CH471172,BC015744,BC019012,BC062330,X92896 CAQ08986,NP_006005,CAI43195,EAW72701,AAH15744,AAH62330,CAA63489,Q14657,ACE87584,ACE86897,ADQ32548 Hs.444619 CVG5|DXS9879E|DXS9951E|ESO3|ITBA2 L antigen family member 3|protein ESO-3 protein-coding 1344054 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including NK cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. [provided by RefSeq] 16754721,18288129,18209062,18063695,17764536,17330824,16380958,15950745,15939744,15489334,15065762,14702039,14604962,14565933,12757266,12477932,12072189,11160222,11069054,10764762,10540327,10453657,10404045,10229813,9692876,9285412,10903717,10660620,18029348,18394348,19345263,19380792,20007810,20237496 3903 NM_021706,NM_002287,AC008746,CH471135,CU207370,CU467018,AF013249,AF109683,AF251509,AF251510,AK093559,AK097869,AK290415,AK303261,AK309895,AK315419,BC027899,CR542051,CR592817,CR602665,CR610686 NP_068352,NP_002278,EAW72233,EAW72234,EAW72235,EAW72236,EAW72237,EAW72238,CAQ07343,CAQ07344,CAQ07345,CAQ52427,CAP58446,CAP58447,CAP58448,CAP58449,AAB69324,AAF17107,AAF71274,AAF71275,BAG53543,BAF83104,BAG64343,BAG37808,AAH27899,CAG46848,Q6GTX8,ABM82998,ABM86192 Hs.572535 CD305|LAIR-1 hLAIR1|leukocyte-associated Ig-like receptor 1|leukocyte-associated ig-like receptor 1|leukocyte-associated immunoglobulin-like receptor 1 protein-coding 1344794 LAIR2 leukocyte-associated immunoglobulin-like receptor 2 The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to LAIR1, an inhibitory receptor present on mononuclear leukocytes. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily, including LAIR1. The function of this protein is unknown, although it is thought to be secreted and may help modulate mucosal tolerance. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17207965,20730098,18209062,17567994,15489334,12477932,10941842,10229813,9285412,8889549,19345263,20237496 3904 HI574262,HI574264,NM_021270,AC008746,CH471135,CU467002,AA133246,AF013250,BC057790,BC069366,NM_002288,BX106365,DQ656002,EF174570,AI262718 ADQ32884,CBX47620,CBX47621,NP_002279,NP_067154,EAW72253,EAW72254,CAQ08961,CAQ08962,AAB69325,AAH69366,ABO69591,Q6ISS4 Hs.43803 CD306|MGC71634 LAIR-2|leukocyte-associated Ig-like receptor 2|leukocyte-associated Ig-like receptor-2|leukocyte-associated immunoglobulin-like receptor 2 protein-coding 1353473 LAKLG lymphokine-activated killer cell ligand 3905 737361 LALBA lactalbumin, alpha- This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq] 1580863 7644538,7708733,19038921,18939797,16851644,16121399,15956205,15558602,15141307,15134431,15075403,14627740,14627739,12888554,12860137,12833543,12594043,12477932,11947697,11718563,11518539,10818224,10366425,10080897,10037730,9925761,9537992,9365923,9346914,9136116,6285305,5049057,3479943,2954544,2002399,20800603,19766656,19968717 3906 NM_002289,AB049976,AC089987,CH471111,X05153,BC069103,BC112316,BC112318,BX281629,CR541987,CR542017,J00270 NP_002280,BAC06860,EAW57990,CAA28799,CAA28800,AAH69103,AAI12317,AAI12319,CAG46784,CAG46814,AAA60345,P00709,ADR82816 Hs.72938 MGC138521|MGC138523 alpha-lactalbumin|lactose synthase B protein|lysozyme-like protein 7 protein-coding 1316264 LAMA1 laminin, alpha 1 1580863 19913121,20589678,20628086,12180907,2733383,14557481,19587235,19416897,18661771,18519826,18436868,18162078,17618648,17307732,16709410,15885076,14702039,12615822,12524166,12477932,12393739,12149247,12111806,11827968,11798066,11311202,10964500,10934193,10837144,10620696,10470109,9688542,9647658,9334356,9169408,9136074,9006922,8999915,8995276,8463343,8360181,7925941,7698745,3488995,2591971,2373692,2049067,1714537,9597096,19672032,20237901,20379614,2099832,8601594,20876614 284217 NM_005559,AP002409,AP005062,AP005210,CH471113,AF351616,AK091949,AK093376,BC016997,BC032758,BC039051,BC041471,BC062318,BC107693,BC144590,X58531 NP_005550,EAX01628,EAX01629,EAX01630,EAX01631,AAN76516,BAG52448,BAG52700,AAH39051,AAH62318,CAA41418,P25391,Q6P6D3,Q7Z5W6,Q8IXG5,AAI72449 Hs.270364,Hs.680444 LAMA S-LAM alpha|S-laminin subunit alpha|laminin A chain|laminin subunit alpha-1|laminin-3 subunit alpha 2315440 INSUL43_H protein-coding 1318918 LAMA2 laminin, alpha 2 Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq] 1600200,1600206,1600207,1580863 12467726,12100448,11938437,11591858,11584042,11311202,11071490,11054877,10616210,10225960,9271224,9158149,9131649,8939648,8910357,8889548,8294519,7925941,7535762,9597096,15210115,2185464,7550355,19294599,18700894,18053718,17426950,16709410,16504180,16344560,16335952,16226104,16216942,16212419,16084089,15452315,15146197,12609502,12601554,12552556,20397748,20207543,14557481,19553699,19692349,19893454,20379614,2099832,20607928 1600200,1600206,1600207 3908 NM_000426,NM_001079823,NG_008678,AL356124,AL445439,AL513527,AL583853,AL589927,AL590613,AL669984,CH471051,U66796,AB208922,AK026829,AL041786,BM984634,CA421469,CN414799,CR610868,DA864571,DB106101,M59832,Z26653 NP_000417,NP_001073291,CAI22470,CAH72952,CAI15185,CAH70492,CAH70771,CAI16682,EAW48080,EAW48081,EAW48082,AAB18388,BAD92159,AAA63215,CAA81394,P24043,Q59H37,AAI72257,AAI72564 Hs.200841 LAMM laminin M chain|laminin subunit alpha-2|laminin-12 subunit alpha|laminin-2 subunit alpha|laminin-4 subunit alpha|merosin heavy chain protein-coding 1345784 LAMA3 laminin, alpha 3 Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 subunit of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1600080,1580863 20936779,19940114,7633458,9597096,11707406,12943669,12915477,12826666,12532327,12477932,12382139,12196012,12136098,11891209,11810295,11775027,11373281,11311202,11278628,10956663,10806203,10801807,9950675,9759651,9395076,9151674,9010770,8939648,8618022,8077230,7921537,7775432,8586427,18664273,18603785,17825249,17466943,17071854,16344560,16297184,16219677,15854126,15695818,15694127,15373767,15316072,15149852,15044476,14702039,14695139,12947106,10637308,10811835,12482924,12802069,16169070,16757171,19724895,19752234,19773554,19834535,19851296,19936049,19945619,20198315,20372818,20036365 1600080 3909 EF444992,NM_198129,NM_001127717,NM_000227,NM_001127718,NG_007853,AB107369,AC010754,AC067796,AC090366,AJ330420,AA001432,AB208853,AF005258,AK024889,AK096422,AY327114,AY327115,AY327116,BC033663,BC043618,BC093406,CA427431,CB990144,CR621377,DA862923,L34155,L34156,X84392,X84900,X85107,X85108 ACA06010,ACA06011,NP_937762,NP_001121189,NP_000218,NP_001121190,BAD13428,BAD92090,AAC51867,AAQ72569,AAQ72570,AAQ72571,AAH33663,AAH93406,AAA59483,AAA59484,CAA59114,CAA59325,CAA59428,CAA59429,O14637,Q14732,Q16787,Q566Q1,Q59HA6,Q6VU67,Q6VU69,Q99533,AAI72402,AAI72580 Hs.436367 BM600|E170|LAMNA|LOCS|lama3a BM600 150kD subunit|epiligrin 170 kda subunit|epiligrin alpha 3 subunit|epiligrin subunit alpha|kalinin 165kD subunit|kalinin subunit alpha|laminin subunit alpha-3|laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)|laminin-5 alpha 3 chain|laminin-5 subunit alpha|laminin-6 subunit alpha|laminin-7 subunit alpha|nicein 150kD subunit|nicein subunit alpha protein-coding 1320894 LAMA4 laminin, alpha 4 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 16344560,16169070,16146715,15915502,15231748,15086543,14980521,14574404,12477932,12454288,12445830,12393739,12133914,11311202,11102753,10934193,9310354,9271224,9060828,8706685,8077230,7921537,7781776,9597096,7959779,19048114,18978678,18496706,18084776,17646580,17533363,16824487,20485444,14557481,19469865,20433883,20936779 3910 NM_001105207,NM_001105206,NM_002290,NM_001105209,NM_001105208,NG_008209,AL590106,CH471051,Y14240,Z99289,AB210027,AJ710266,AK027151,AK304401,BC004241,BC026237,BC066552,BT006690,BX648467,CR407622,DB271101,S78569,U77706,X70904,X76939,X91171 NP_001098677,NP_001098676,NP_002281,NP_001098679,NP_001098678,CAI12948,CAI12949,CAI12950,EAW48266,EAW48267,EAW48268,EAW48269,EAW48270,CAA74636,CAB16554,CAI42325,CAI42332,CAI42333,BAE06109,BAH14174,AAH04241,AAH26237,AAH66552,AAP35336,CAG28550,AAB34635,AAB36540,CAA50261,CAA54258,CAA62596,Q05CF9,Q16363,Q5D044,Q5H8X0,Q6LET9,Q99737 Hs.654572 DKFZp686D23145|LAMA3|LAMA4*-1 OTTHUMP00000017044|laminin alpha 4 chain|laminin subunit alpha-4|laminin-14 subunit alpha|laminin-8 subunit alpha|laminin-9 subunit alpha protein-coding 1354079 LAMA5 laminin, alpha 5 Components of the extracellular matrix exert myriad effects on tissues throughout the body. In particular, the laminins, a family of heterotrimeric extracellular glycoproteins, affect tissue development and integrity in such diverse organs as the kidney, lung, skin, and nervous system. It is thought that laminins mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminins function as heterotrimeric complexes of alpha, beta, and gamma chains, with each chain type representing a different subfamily of proteins. The protein encoded by this gene belongs to the alpha subfamily of laminin chains and is a major component of basement membranes. Two transcript variants encoding different isoforms have been found for this gene, but the full-length nature of one of them has not been determined. [provided by RefSeq] 1580863 9271224,16236823,18694491,18635166,18523231,18496706,17888902,17482449,17137774,17000025,16940506,16870608,16723698,16537560,16460839,16339173,16289162,11133776,11104726,10964957,10964500,10671376,10620696,10617638,10207021,9628581,9353324,9245798,9006922,9597096,10956663,15774758,11159210,16226104,11311202,16179086,15975931,15967115,15579904,15302884,15231748,14691145,14612440,12875969,12817023,12743034,12691260,12682087,12477932,12393739,12382139,12379663,12366691,12244066,12242717,11985661,11891225,11821406,11780052,11572484,11352943,19913121,20628086,11964076,14557481,16169070,16581764,19752234,9645947,20433883,20972440,20951195 3911 NM_005560,AL354836,CH471077,AB010099,AB011105,AB067494,AF443072,AK074307,BC003355,BC015386,BC085017,Z95636 NP_005551,CAC22310,CAI12295,EAW75372,EAW75373,EAW75374,BAA31347,BAA25459,BAB67800,AAM12527,AAH85017,CAB09137,O15230,O75079,Q5JTP4,Q5U4N9 Hs.473256 KIAA1907 laminin alpha-5 chain|laminin subunit alpha-5|laminin-10 subunit alpha|laminin-11 subunit alpha|laminin-15 subunit alpha protein-coding 1314859 LAMB1 laminin, beta 1 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq] 1624317,1580863 9196901,9184849,7921537,3661559,3611077,3493487,2704655,2563160,1975589,1864606,20936779,18450753,18162078,16713569,16344560,16335952,16146715,15987446,15967115,15706419,15474030,12853948,12743034,12615822,12477932,11891225,11311202,11096140,11067943,10964500,10801807,10671376,10407855,10225960,9647658,9435560,9309712,16289578,14557481,15894315,16236823,18029348,19526105,19416897,19147489,19058789,18691630,18474427,10842354,11054877,19122664,19834535,19915572,20201926,2099832,20228799 1624317 3912 NG_023255,NM_002291,AC005046,AC078853,CH236947,CH471070,M55370,M61951,AK303501,AK307611,AK309921,BC026018,BC044633,BC052598,BC113455,BX648251,CR601216,CR622254,DA861108,M20206,M61916 NP_002282,AAS07514,EAL24388,EAW83423,EAW83424,AAA59485,AAA59486,BAG64534,AAH26018,AAI13456,AAA59487,AAA59482,P07942,Q75MC8,Q8TAS6 Hs.650585 CLM|MGC142015 OTTHUMP00000195576|cutis laxa with marfanoid phenotype|laminin B1 chain|laminin subunit beta-1|laminin-1 subunit beta|laminin-10 subunit beta|laminin-12 subunit beta|laminin-2 subunit beta|laminin-6 subunit beta|laminin-8 subunit beta protein-coding 733412 LAMB2 laminin, beta 2 (laminin S) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq] 728961,1580863 10671376,10454804,10393422,8662701,7967523,7921537,7795887,2922051,20936779,19367581,19147489,19048114,18672223,18594871,18065803,18058136,17943323,17804866,17426950,17371932,16921188,16912710,16898484,16146715,15603881,15367484,15342556,15146197,14702039,11891225,11311202,10964500,16236823,7698745,18029348,11964076,14557481,16581764,20507940,2099832,9645947,20556798 728961 3913 NM_002292,NG_008094,AC135506,CH471055,Z68155,Z68156,AK094050,BP354643,CN265778,CN265784,CV814167,S77512,X72760,X79683 NP_002283,EAW64958,EAW64959,CAA92279,BAC04272,AAB34682,CAA51288,CAA56130,P55268,Q15483,Q8N9Q8,AAI72384 Hs.439726 LAMS OTTHUMP00000210663|S-LAM beta|S-laminin subunit beta|laminin B1s chain|laminin S|laminin subunit beta-2|laminin, beta 2|laminin-11 subunit beta|laminin-14 subunit beta|laminin-15 subunit beta|laminin-3 subunit beta|laminin-4 subunit beta|laminin-7 subunit beta|laminin-9 subunit beta protein-coding 1346017 LAMB2L laminin, beta 2-like 10393422,9925618,8889548 22973 AC135506,BM683069,BM719107,NR_004405,AJ009558 Hs.607092 LAMB2L pseudo 1344175 LAMB3 laminin, beta 3 The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] 1600209,1580863 18387282,18331784,18284540,17476356,16710414,16147969,15854126,15538630,15489334,15373767,15370542,15363037,15342556,15331737,15149852,15146197,12477932,11867230,11689492,11311202,11296269,10964684,10806203,10577906,9989793,9856855,9840442,9767254,9579554,9501007,9457915,9242513,9205497,8824879,8530036,8088808,7775432,7706760,7698759,7550237,7550320,7774918,18603785,7512558,10637308,10811835,12482924,12802069,16757171,19275936,19383890,19700013,19701966,20163849,19940114 1600209 3914 NM_000228,NM_001017402,NG_007116,NM_001127641,AL023754,AL031316,CH471100,U17744,U17745,U17746,U17747,U17748,U17749,U17750,U17751,U17752,U17753,U17754,U17755,U17756,U17757,U17758,U17759,U17760,AK296851,AK309524,AL555685,AY035783,BC058922,BC075838,BP350980,BX345166,CN414822,D37766,L25541 NP_000219,NP_001017402,NP_001121113,CAA19297,CAI19989,CAI20061,CAI20062,EAW93448,EAW93449,AAC51352,BAG59417,AAK61364,AAH75838,BAA22263,AAA61834,Q13751,Q5THA1,ACE87158,ACE86477 Hs.497636 BM600-125KDA|FLJ99565|LAM5|LAMNB1 epiligrin subunit bata|kalinin B1 chain|kalinin subunit beta|kalinin-140kDa|laminin B1k chain|laminin S B3 chain|laminin subunit beta-3|laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))|laminin-5 subunit beta|nicein subunit beta|nicein-125kDa protein-coding 1342609 LAMB4 laminin, beta 4 19615732,19401682,16344560,16228230,12477932,11483367,11329013,9847074,11311202 22798 NM_007356,AC005048,AF172277,CH236947,CH471070,AF028816,AF029325,AK300385,AK301777,BC045172,BC140804,BC142619,BC144591,BG216241,DA859196 NP_031382,AAF22284,EAL24387,EAW83425,EAW83426,AAC95123,AAC95124,BAG62119,BAG63235,AAH45172,AAI40805,AAI42620,AAI44592,A4D0S4,O95127,Q9UHI2 Hs.62022 OTTHUMP00000206849|laminin beta-1-related protein|laminin subunit beta-4 protein-coding 1318553 LAMC1 laminin, gamma 1 (formerly LAMB2) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq] 1580863 16169070,15159456,15561105,9885251,14557481,16236823,18029348,18697739,18073332,17554784,17021862,16344560,16335952,16146715,15967115,15370542,15231748,15146197,12754519,12743034,12615822,12526023,12477932,12111806,11891225,11311202,11133776,11067943,10964500,10671376,9755123,9733643,9647658,8889548,7921537,7698745,3552045,3402995,3360804,3234037,2922051,1985895,1806043,20628624,11054877,19416897,19834535,20223449 3915 NM_002293,NG_011463,AL354953,AL450304,CH471067,M55210,BC015586,BC035429,BC067813,BF507385,BI768612,CF125114,CN388644,CR593573,DA401791,J03202,M27654,X13939 NP_002284,CAH70981,CAI14877,EAW91144,EAW91145,AAA59492,AAH15586,AAH67813,AAA59488,AAA59489,CAA32122,P11047,Q6NVY8,Q96BH6 Hs.609663 LAMB2|MGC87297 S-LAM gamma|S-laminin subunit gamma|laminin B2 chain|laminin subunit gamma-1|laminin-1 subunit gamma|laminin-10 subunit gamma|laminin-11 subunit gamma|laminin-2 subunit gamma|laminin-3 subunit gamma|laminin-4 subunit gamma|laminin-6 subunit gamma|laminin-7 subunit gamma|laminin-8 subunit gamma|laminin-9 subunit gamma protein-coding 1315384 LAMC2 laminin, gamma 2 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq] 1600210 12477932,12197671,12138239,11992550,11920553,11810295,11733994,11564184,11311202,11279058,10964684,10951251,10806203,10801807,10749670,10713141,9989793,9721586,9010770,8786121,8306988,8265624,8012393,7987320,7921537,7849725,1383240,8012394,19582886,19383890,19351903,19147813,19047908,18713836,18697739,18669583,18603785,18559558,18332212,17786338,17426950,17390227,17314405,16870608,16710414,16395714,16285938,16103736,15963983,15854126,15743799,15609083,15373767,15370542,15363037,15149852,15105812,14632187,12643602,12519076,12517801,20143393,19940114,10637308,10811835,12482924,12802069,16757171,17353186,19265264,19469865,19667121,19701966,19934926,20307265,20729552,20631633 1600210 3918 NM_005562,NM_018891,NG_007079,AL354953,CH471067,U31178,U31179,U31180,U31181,U31182,U31183,U31184,U31185,U31186,U31187,U31188,U31189,U31190,U31191,U31192,U31193,U31194,U31195,U31196,U31197,U31198,U31199,U31200,U31201,AK296944,AK307945,BC112286,BC113378,BC143653,X73902,Z15008,Z15009 NP_005553,NP_061486,CAH70980,EAW91146,EAW91147,AAC50457,AAC50456,BAG59493,AAI12287,AAI13379,CAA52108,CAA78728,CAA78729,Q13753,Q2M1N2 Hs.591484 B2T|BM600|CSF|EBR2|EBR2A|LAMB2T|LAMNB2|MGC138491|MGC141938 BM600-100kDa|CSF 140 kDa subunit|cell-scattering factor 140 kDa subunit|epiligrin subunit gamma|kalinin (105kD)|kalinin subunit gamma|kalinin-105kDa|ladsin (140kDa)|ladsin 140 kDa subunit|laminin B2t chain|laminin subunit gamma-2|laminin-5 subunit gamma|large adhesive scatter factor 140 kDa subunit|nicein (100kDa)|nicein subunit gamma|nicein-100kDa 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 1319725 LAMC3 laminin, gamma 3 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. However, it was also found that the gamma 3 is a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq] 1580863 19913121,20628086,10225960,16303743,11311202,11162474,7921537,11964076,16581764,18697739,20237496,9645947 10319 NM_006059,AL157938,AL355872,AL583807,CH471090,AB208887,AF041835,AK075536,AL133595,AL551493,BX327938,CR618197,R45355 NP_006050,EAW87954,EAW87955,EAW87956,EAW87957,BAD92124,AAD36991,BAC11679,CAB63732,Q8N2D6,Q9UF61,Q9Y6N6,AAI56275,CAH69983,CAH69984,CAI39528,CAI39529 Hs.201805 DKFZp434E202 laminin subunit gamma-3|laminin-12 subunit gamma|laminin-14 subunit gamma|laminin-15 subunit gamma protein-coding 737544 LAMP1 lysosomal-associated membrane protein 1 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq] 1580863 3174652,15052268,19343823,19079288,18958159,18835598,17506821,17048695,16887987,16778144,16718270,16710742,16570122,16542649,16335952,15916720,15744340,15292400,15052658,14702039,12754519,12477932,12230470,12144129,10222041,9482728,8647888,8517882,8323299,7569928,3198605,3131762,2912382,2584229,2332441,2243102,1959930,18329387,15792797,19524015,20926008 3916 NM_005561,AL136221,CH471085,L08576,L08577,L08578,L08579,L08580,L08581,L08582,AB209319,AK092398,AK301584,BC006345,BC007845,BC021288,BC025335,BC093044,BU849686,CR593667,CR598041,CR613424,CR626636,DB462451,J03263,J04182 NP_005552,CAI13797,EAX09202,EAX09203,AAF66141,BAD92556,BAG52545,BAG63075,AAH06345,AAH07845,AAH21288,AAH93044,AAA59524,AAA60382,P11279,Q59FZ0,ABM83540,ABM86780 Hs.494419 CD107a|LAMPA|LGP120 CD107 antigen-like family member A|LAMP-1|lysosomal membrane glycoprotein 1|lysosome-associated membrane glycoprotein 1|lysosome-associated membrane protein 1 protein-coding 1344665 LAMP1L1 lysosomal-associated membrane protein 1-like 1 100421198,3919 AC005343,NG_023963 LAMP1L1 pseudo 735952 LAMP2 lysosomal-associated membrane protein 2 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq] 1580822,1580823,1580826,1580863 15229288,15297306,8743190,19362087,19343823,19057086,18958159,18550537,18403758,18061453,18004770,17899313,17873513,17506821,17296900,17048695,16570122,16344560,16335952,16190986,16144992,15907287,15894275,15772651,15673802,15489334,15340161,14561493,12754519,12505983,12477932,12144129,11139587,10972294,10222041,9746610,9668075,9010755,8995204,8660832,8517882,8323299,7999007,7488019,7487911,3198605,2912382,2332441,2243102,2032724,1959930,15333840,20513107,19913121,20628086,12536145,1435334,19524015,19533775,19815536,20926008,20920663,20173215 1580822,1580823,1580826 3920 CH471107,L09717,AK291090,AK293931,AK295038,AK304405,AY561849,BC002965,BC040653,BP386088,CR606114,CR607757,CR616621,DA405328,J04183,S79873,U36336,X77196,AC006962,NM_002294,NM_001122606,NM_013995,NG_007995,AC002476 EAX11881,EAX11882,EAX11883,EAX11884,AAB41647,BAF83779,BAG57310,BAH11955,BAG65239,AAS67876,AAH02965,AAA60383,AAB35426,AAA91149,CAA54416,P13473,Q6Q3G8,ABM83021,ABM86214,NP_002285,NP_001116078,NP_054701,AAB67313,AAB67314 Hs.496684 CD107b|LAMPB|LGP110 CD107 antigen-like family member B|LAMP-2|lysosomal membrane glycoprotein 2|lysosome-associated membrane glycoprotein 2|lysosome-associated membrane protein 2 protein-coding 1317407 LAMP3 lysosomal-associated membrane protein 3 9721848,19335688,19308021,18292234,17606713,17056097,16887987,16344560,16204031,15489334,15111122,12477932,9768752,19913121,20628086,20863830,17554300,20414141 27074 NM_014398,AC104641,CH471052,AB013924,AJ005766,AK302894,AK313172,BC032940,BI462212,DA994656,DC399447,HI573952 NP_055213,EAW78337,EAW78338,BAA34533,CAA06691,BAG64067,BAG35989,AAH32940,Q9UQV4,ABM83044,CBX47465 Hs.518448 CD208|DC LAMP|DC-LAMP|DCLAMP|LAMP|LAMP-3|TSC403 DC LAMP|DC-lysosome-associated membrane glycoprotein|LAMP-3|OTTHUMP00000212869|lysosome-associated membrane glycoprotein 3 protein-coding 69464 LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial) This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 9512664,15082773,15489334,12477932,11474189,10944443,18029348,19528316 10314 NM_006055,NM_001136574,NM_001136575,AC007970,AJ289236,CH471063,AK294674,AK309295,AK312381,BC007041,BC028685,BX473106,CR541777,CR608947,DC321883,DC324843,Y11395 NP_006046,NP_001130046,NP_001130047,AAY14696,CAC21950,EAW70487,EAW70488,EAW70489,EAW70490,EAW70491,BAG57838,BAG35299,AAH28685,CAG46576,CAA72205,O43813,Q53TN2,Q6FHH6,ABM84706 Hs.13351 GPR69A|p40 40 kDa erythrocyte membrane protein|G protein-coupled receptor 69A|LanC (bacterial lantibiotic synthetase component C)-like 1|LanC (bacterial lantibiotic synthetase component)|OTTHUMP00000206537|OTTHUMP00000206538|lanC-like protein 1 protein-coding 1321926 LANCL2 LanC lantibiotic synthetase component C-like 2 (bacterial) 1580863 11762191,12566319,19165527,15489334,14702039,12853948,12477932,9373149,8125298,18029348,16979580,19615732,19667068 55915 NM_018697,CH471201,AA994905,AB035966,AF353942,AJ278245,AK095857,AK225958,AK301747,AK313326,AL713665,BC004887,BC070049,BF590020,BI869599,CR619072,CR620619,AC073347,CH236957 NP_061167,EAW50968,BAA96800,AAK83286,CAC21715,BAG53147,BAG63209,BAG36131,CAD28471,AAH04887,AAH70049,Q9NS86,AAQ93360,EAL23810 Hs.595384,Hs.655117 GPR69B|MGC87139|TASP G protein-coupled receptor 69B|LanC (bacterial lantibiotic synthetase component C)-like 2|lanC-like protein 2|testis-specific adriamycin sensitivity protein protein-coding 1349608 LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial) 12477932,10409428 347404 NM_198511,AC233283,AC233297,AL121577,AL627244,CH471141,AK124915,BC093667,BC093669,BC143528,AI989993,BG944288,NG_016368,NM_001170331 NP_940913,EAW59455,BAC85993,AAH93667,AAH93669,Q6ZV70,NP_001163802 Hs.521932 FLJ42925 lanC-like protein 3 protein-coding 1317491 LAP3 leucine aminopeptidase 3 1580863 18029348,20877624,1908238,16513116,15489334,14702039,12477932,9373149,8506345,8125298,6350155,4692835,3733731,1602151,752543,752511,689684,20379614,20562859 51056 NM_015907,AC006160,CH471069,AF061738,AK022055,AK130293,AK225511,AK298613,AK298790,AK307723,BC006199,BC065564,BI827557,BM800626,CR457128,CR593546,CR601185,CR602931,CR604573,CR605730,CR615225,CR620660,CR623098 NP_056991,EAW92780,AAD17527,BAG51065,BAG60795,BAG60927,AAH06199,AAH65564,CAG33409,P28838 Hs.570791 LAP|LAPEP|PEPS LAP-3|cytosol aminopeptidase|leucyl aminopeptidase|peptidase S|proline aminopeptidase|prolyl aminopeptidase protein-coding 1346215 LAPTM4A lysosomal protein transmembrane 4 alpha This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq] 1580863 10942595,15489334,15342556,12975309,12766061,12477932,8621662,7788527,16169070 9741 AK304433,NM_014713,AC079145,AC098828,CH471053,AK129875,AY359028,BC000421,BC003158,BC093075,BP354016,CB962971,CD679337,CR456758,CR594890,CR597537,CR599013,CR599755,CR602246,CR604791,CR604820,CR605678,CR607529,CR607775,CR607830,CR608072,CR611436,CR612473,CR613521,CR615552,CR618524,CR618630,CR619265,CR621011,CR621170,CR622236,CR623001,CR624947,D14696,DR156048 BAG65258,NP_055528,AAX88938,AAY24172,EAX00833,EAX00834,EAX00835,EAX00836,AAQ89387,AAH00421,AAH03158,AAH93075,CAG33039,BAA03522,Q15012,Q4ZG00,Q53QZ6,Q6IBP4,Q9BTU8 Hs.467807 HUMORF13|KIAA0108|LAPTM4|MBNT|Mtrp golgi 4-transmembrane-spanning transporter MTP|lysosomal-associated protein transmembrane 4 alpha|lysosomal-associated transmembrane protein 4A|membrane nucleoside transporter protein-coding 1323527 LAPTM4B lysosomal protein transmembrane 4 beta 1580863 18949404,18334282,17965115,17074969,16769693,16381901,16303743,15968325,15911104,15489336,15489334,15162524,12902989,12640618,12477932,11230166,11076863,20583413,20711237,19690886,19843073,20358632,20379614 55353 NM_018407,AP002906,AP003357,AY198226,AY219176,AY219177,CH471060,AF317417,AF527412,AI079853,AK075326,AK311377,AL136942,AY057051,AY261384,BC014129,BC031021,BC038117,CR594459,CR618053,CR623862,CR624328 NP_060877,AAO63563,AAO64358,AAO64359,EAW91763,AAK69595,AAP14034,BAC11549,CAB66876,AAL17908,AAO84265,AAH14129,AAH31021,AAH38117,Q86SJ0,Q86VI4,Q9NY06,CAL37604,CAL38567 Hs.492314 LAPTM4beta|LC27 lysosomal associated protein transmembrane 4 beta|lysosomal-associated transmembrane protein 4B|lysosome-associated transmembrane protein 4-beta protein-coding 1354375 LAPTM5 lysosomal protein transmembrane 5 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq] 1580863 8661146,18203646,18202799,15231748,12886255,12527926,12477932,7788527,17116753,19787053 7805 NM_006762,AL137027,AL137857,CH471059,U30499,AF401210,AK292009,AK297014,BC106896,BC106897,BF000809,CR607037,CR607333,CR626282,CT003824,D42042,U30498,U51240 NP_006753,CAI19267,CAI19321,EAX07640,EAX07641,BAF84698,BAG59547,AAI06897,AAI06898,BAA07643,AAA74018,AAB08975,Q13571,Q5TBB8 Hs.371021 CLAST6|FLJ61683|FLJ97251|MGC125860|MGC125861 CD40-ligand-activated specific transcripts|human retinoic acid-inducible E3 protein|lysosomal associated multispanning membrane protein 5|lysosomal multispanning membrane protein 5|lysosomal-associated multitransmembrane protein 5|lysosomal-associated transmembrane protein 5|retinoic acid-inducible E3 protein protein-coding 1318927 LARGE like-glycosyltransferase This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq] 1358756,1580863 9892679,19299310,19244252,18519826,17878207,17436019,15958417,15752776,15661757,15489334,15461802,15210115,15184894,12966029,12477932,12140558,10591208,9628581,20800603,20201926,20379614 1358756 9215 Z97354,AB011181,AI167885,AI198348,AI199197,AJ007583,AK294766,AK295636,AK301808,AK310462,BC117425,BC126404,BF057493,CR456510,CR607752,DR000293,NM_133642,NM_004737,NG_009929,AL008630,AL008640,AL008715,AL023577,AL096754,AL133451,CH471095,Z49866,Z54073,Z68287,Z68324,Z69042,Z69713,Z69715,Z69943,Z70288,Z73421,Z73429,Z76736,Z77853,Z82173,Z82179 BAA25535,BAH11875,BAH12135,BAH13559,AAI17426,AAI26405,CAG30396,O95461,CAK54540,CAK54839,NP_598397,NP_004728,CAI17950,CAI17890,CAI18784,EAW60041,EAW60042,EAW60043,CAI18785,CAI18772,CAI18788,CAI18769,CAI18754,CAA07571,ADR83266 Hs.474667 KIAA0609|MDC1D|MDDGA6|MDDGB6 OTTHUMP00000198704|acetylglucosaminyltransferase-like 1A|acetylglucosaminyltransferase-like protein|glycosyltransferase-like protein LARGE1|like-acetylglucosaminyltransferase protein-coding 1603686 LARP1 La ribonucleoprotein domain family, member 1 17353931,17081983,16964243,15489334,15324660,15302935,15060081,14702039,12477932,10878606,9872452,19710015 23367 AC008379,AC112169,CH471062,AB018274,AK091465,AK307554,AL133034,BC001460,BC003063,BC010144,BC015573,BC033856,BC038220,BQ422667,NM_015315 NP_056130,EAW61632,EAW61633,EAW61634,BAA34451,BAC03668,CAB61364,AAH01460,AAH33856,Q6PKG0,ABZ92312 Hs.292078 KIAA0731|LARP|MGC19556 la-related protein 1 protein-coding 1605666 LARP1B La ribonucleoprotein domain family, member 1B This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq] 14702039,12477932,12045101 55132 NM_178043,NM_032239,AC096898,AC099340,AC108045,AC114735,AC124030,CH471056,AK001240,AK027164,AK092764,AK098437,AK310421,AL137759,AL832170,BC002840,NM_018078,BC030516,BC050654,BC062606,BC110300,BX537937,BC018794 NP_060548,NP_835144,NP_115615,AAY41042,AAY41031,EAX05184,EAX05185,EAX05186,EAX05187,BAA91576,BAB15679,BAC03970,BAC05306,CAH56379,CAH56210,AAH30516,AAH50654,AAH62606,AAI10301,CAD97908,Q659C4,AAI48513 Hs.657067 DKFZp686L13217|LARP2|MGC117277|MGC75174 La ribonucleoprotein domain family, member 2|OTTHUMP00000219824|OTTHUMP00000219827|OTTHUMP00000219828|la ribonucleoprotein domain family member 2|la-related protein 1B|la-related protein 2 protein-coding 1603283 LARP4 La ribonucleoprotein domain family, member 4 16682284,15572213,15498874,14702039,12477932,9110174,8619474,16344560,20972440 113251 NM_052879,NM_199190,AC090058,CH471111,AF131755,AF370416,AK055521,AK125113,AK291746,AL050205,AL832198,AL833272,AY004310,BC017395,BC022377,BC032444,BC063479,BX647457,CR936626,NM_199188,AW002420,DB061954,NM_001170803,NM_001170804,NM_001170808,NR_033200 NP_954658,NP_443111,NP_954660,EAW58139,EAW58140,EAW58141,EAW58142,EAW58143,EAW58144,EAW58145,EAW58146,EAW58147,EAW58148,AAQ15252,BAB70940,BAC86052,BAF84435,AAF86614,AAH17395,AAH22377,AAH63479,CAI56769,Q6P4E2,Q71RC2,Q8TBL5,Q8WVX5,Q96J85,ACE87255,ACE86572,ACE87350,ACE86666,NP_001164274,NP_001164275,NP_001164279 Hs.26613 DKFZp686E039|MGC74631|PP13296 c-Mpl binding protein|la-related protein 4 protein-coding 1321780 LARP4B La ribonucleoprotein domain family, member 4B 737633 15489334,15164054,12477932,9039502,12388589,20379614,17081983,16964243 737633 23185 NM_015155,AL157709,AL359878,CH471072,BC003381,BC131630,BC152443,CR599351,CR749653,D86971 Q5JUS6,NP_055970,CAI39596,CAI39597,CAI13661,CAI13662,CAI13663,EAW86530,EAW86531,AAH03381,AAI31631,AAI52444,CAH18446,BAA13207,Q92615,Q9BTS9 Hs.713649,Hs.631814 DKFZp686M23113|KIAA0217|LARP5|RP11-164C1.3 La ribonucleoprotein domain family, member 5|la ribonucleoprotein domain family member 5|la-related protein 4B|la-related protein 5 protein-coding 3302346 LARP4P La ribonucleoprotein domain family, member 4 pseudogene 554354 AC013640,AC103988,NG_016303 pseudo 1605069 LARP6 La ribonucleoprotein domain family, member 6 18029348,17383118,17081983,15489334,14702039,12477932,19889961,19917293 55323 NM_018357,NM_197958,AC009269,AC090868,CH471082,AF443828,AF443829,AK002058,AK130092,AL833876,BC006082,BC009446,BC014018,BC039153,BI913258,CR592697 NP_060827,NP_932062,EAW77860,EAW77861,AAN76710,AAN76711,BAA92061,CAD38733,AAH06082,AAH09446,AAH14018,AAH39153,Q5XKE4,Q9BRS8 Hs.416755 ACHN|FLJ11196 acheron|death-associated LA motif protein|la-related protein 6 protein-coding 1604813 LARP7 La ribonucleoprotein domain family, member 7 20410271,18483487,18281698,18249148,18191186,16344560,15146197,12477932,9373149,8889548,8125298,17643375,18029348,20332099 51574 NM_015454,AC106864,CH471057,AF068284,AK000274,AK225900,AL049996,BC006981,BC066945,BC107709,BM979591,BX647100,CA314598,CN346208,NM_016648,DB270203,EU667388 NP_057732,NP_056269,EAX06282,EAX06283,EAX06284,EAX06285,AAF65503,CAB43230,AAH06981,AAH66945,AAI07710,ACD13786,Q4G0J3,Q96IZ8 Hs.713663 DKFZp564K112|HDCMA18P|MGC104360|PIP7S OTTHUMP00000219762|P-TEFb-interaction protein for 7SK stability|la-related protein 7 protein-coding 1312707 LARS leucyl-tRNA synthetase This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. Alternatively spliced transcript variants of this gene have been found; however, their full-length nature is not known. [provided by RefSeq] 1580863 20562859,18446061,17378584,17363246,16344560,16055448,14702039,12477932,11829477,11181995,11042152,10913161,10718198,10200289,9878398,9373149,8125298,6933703,1651330,17353931,11714285,19426743,19702327,8052601,8078941,8188258,8449960,9278442 51520 AC091887,AC091959,CH471062,AB037773,AF151026,AK000277,AK001457,AK001682,AK021413,AK023777,AK025441,AK095870,AK127009,NM_020117,AK225372,AK293750,AK295874,AK304134,AK315178,AL390155,AY513284,AY926480,BC068041,BC105581,BC110084,BC131798,BC150213,BC151214,BC152422,CK902545,CR606937,D84223,DB086913,U56252 NP_064502,EAW61848,EAW61849,EAW61850,BAA92590,AAF36112,BAA91702,BAA91833,BAB13817,BAB14674,BAG54421,BAG57172,BAG58672,BAG65028,BAG37619,CAB99091,AAT08037,AAX10025,AAH68041,AAI05582,AAI31799,AAI50214,AAI51215,AAI52423,BAA95667,Q0VGM8,Q2TU79,Q6NVI4,Q9H8E3,Q9HAM7,Q9NPU8,Q9NVC0,Q9NVP8,Q9P0T1,Q9P2J5 Hs.432674 FLJ10595|FLJ21788|HSPC192|KIAA1352|LARS1|LEURS|LEUS|LRS|PIG44|RNTLS|hr025Cl OTTHUMP00000223913|cytoplasmic leucyl-tRNA synthetase|cytosolic leucyl-tRNA synthetase|leucine tRNA ligase 1, cytoplasmic|leucine translase|leucine--tRNA ligase|leucine-tRNA ligase|leucyl-tRNA synthetase, cytoplasmic|proliferation-inducing gene 44 protein-coding 1318191 LARS2 leucyl-tRNA synthetase 2, mitochondrial This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq] 1580863 19129950,18796578,15919814,15737668,15489334,15123417,12821328,12549915,20877624,12527375,12477932,10647888,9408748,7584028,7584026,1684970,10684970,19847392,20194621 23395 NM_015340,AC006515,AC092500,AC099539,AJ312685,CH471055,AK025465,AK026113,BI463427,CR620253,D21851,AK308146,BC025989 NP_056155,CAC35916,EAW64740,AAH25989,BAA04877,Q15031,Q9BQR0,ABM92170,ABW03301 Hs.526975 KIAA0028|LEURS|MGC26121 OTTHUMP00000210279|OTTHUMP00000210280|leucine tRNA ligase 2, mitocondrial|leucine translase|probable leucyl-tRNA synthetase, mitochondrial protein-coding 1354295 LAS1L LAS1-like (S. cerevisiae) 737633 8125298,17353931,16964243,15772651,15635413,15489334,14702039,12477932,12429849,9373149,20647540,15960975,16344560 737633 81887 AK125760,AL050306,CH471132,AF116730,AK022587,AK054817,AK074087,AK097383,NM_031206,AK225059,AK295591,BC014545,BC018610,BC019302,AK054695,AK127207,DA619280,DQ323625,DQ323626,NG_016369,NM_001170649,NM_001170650 NP_112483,CAB51351,CAI42835,CAI42836,EAX05401,EAX05402,EAX05403,EAX05404,AAO15306,BAB14114,BAG51428,BAB84913,BAG53459,BAG54243,BAH12117,AAH14545,AAH18610,AAH19302,Q9Y4W2,ABD39128,ABD39129,NP_001164120,NP_001164121 Hs.522675 FLJ12525|FLJ30133|FLJ45274|RP3-475B7.2|dJ475B7.2 protein LAS1 homolog protein-coding 68601 LASP1 LIM and SH3 protein 1 This gene encodes a member of a LIM protein subfamily characterized by a LIM motif and a domain of Src homology region 3. The encoded protein functions as an actin-binding protein and possibly in cytoskeletal organization. [provided by RefSeq] 1580863 7589475,19177205,17956604,17376794,16430883,16189514,16094384,15489334,15465019,15146197,15004028,14702039,12665801,12571245,12477932,12432067,9848085,9688835,7490069,20812987,20660701,18029348,19060904,19155088,19718473,20379614,20461080,20924110 3927 NM_006148,AC006441,AC110749,CH471152,AK095958,AK289847,AK295522,AK296092,AK307868,AK309933,BC007367,BC007560,BC012460,X82456 NP_006139,EAW60543,EAW60544,EAW60545,BAF82536,BAG58436,BAG58846,AAH07560,AAH12460,CAA57833,Q14847,ABM82465,ABM85654 Hs.725954 Lasp-1|MLN50 LIM and SH3 domain protein 1|MLN 50|OTTHUMP00000164239|metastatic lymph node gene 50 protein protein-coding 1314323 LASS1 LAG1 homolog, ceramide synthase 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. Members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in yeast suggest that the encoded protein is involved in aging. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq] 1580863 15489334,15317812,15057824,12477932,12105227,9872981,2034669,20569235,19800881 10715 NM_021267,NM_198207,NG_003110,AC003972,AC005197,AF105005,AF105009,CH471106,AL120193,BC032615,BC084582,BF343384,BM925585,BX453803,CR614536,CR623677,M62302 NP_067090,NP_937850,AAC24611,AAD16892,EAW84745,EAW84746,AAH84582,AAA58500,P27544,Q5XG75 Hs.412355 CerS1|LAG1|MGC90349|UOG1 LAG1 homolog, ceramide synthase 1 (S. cerevisiae)|LAG1 longevity assurance homolog 1|lag1 longevity assurance homolog 1 (s. cerevisiae)|longevity assurance (LAG1, S. cerevisiae) homolog 1|longevity assurance gene 1 protein homolog 1|protein UOG-1|upstream of GDF1 protein-coding 1320742 LASS2 LAG1 homolog, ceramide synthase 2 This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 11543633,17353931,18165233,17081983,16344560,16341674,16263699,15489334,14702039,12477932,20406683,18194600,18029348,19728861,19912991,20383146 29956 NM_181746,NM_022075,AL590133,CH471121,AF177338,AF189062,AK001105,AK290989,AY091458,BC001357,BC010032,BM764143,BQ219926,DA019883 NP_859530,NP_071358,CAI13329,CAI13330,CAI13331,CAI13332,CAI13333,CAI13334,EAW53497,EAW53498,EAW53499,EAW53500,EAW53501,EAW53502,AAG17982,AAF01058,BAA91505,BAF83678,AAM12028,AAH01357,AAH10032,Q5SZE1,Q5SZE2,Q5SZE3,Q5SZE4,Q5SZE6,Q96G23,ABZ92021 Hs.713103 CerS2|FLJ10243|L3|MGC987|SP260|TMSG1 LAG1 longevity assurance 2|LAG1 longevity assurance homolog 2|OTTHUMP00000033029|OTTHUMP00000033030|OTTHUMP00000033031|ceramide synthase 2|lag1 longevity assurance homolog 2 (s. cerevisiae)|longevity assurance (LAG1, S. cerevisiae) homolog 2|tumor metastasis-suppressor gene 1 protein protein-coding 1319080 LASS3 LAG1 homolog, ceramide synthase 3 1580863 18029348,15489334,12477932,20304771 204219 NM_178842,AC015723,AC027020,CH471101,AK307191,BC027616,BC028703,BC034500,BC034970 NP_849164,EAX02267,EAX02268,EAX02269,AAH28703,AAH34500,AAH34970,Q8IU89,ABM81825,ABW03297 Hs.662371 CerS3|MGC27091 LAG1 longevity assurance homolog 3|OTTHUMP00000194817 protein-coding 1319578 LASS4 LAG1 homolog, ceramide synthase 4 1580863 12477932,9373149,19798445,20080650,8125298,16344560,15489334,14702039 79603 NM_024552,AC022146,CH471139,AK022151,AK055414,AK222621,AK225394,BC009828,BC063621,CR598338,CR614629,CR623019,DA381485 NP_078828,EAW68940,EAW68941,EAW68942,EAW68943,EAW68944,EAW68945,BAB13972,BAD96341,AAH09828,Q53HF9,Q9HA82,ABM84141,ABM87543 Hs.515111 CerS4|FLJ12089|Trh1 LAG1 longevity assurance homolog 4|lag1 longevity assurance homolog 4 (s. cerevisiae) protein-coding 1323138 LASS5 LAG1 homolog, ceramide synthase 5 1580863 16951403,18676372,17081983,17030510,16100120,15489334,20406683,12477932 91012 NM_147190,AC074032,AC139016,CH471111,CQ834406,AK026014,AK058033,AK294521,AK298924,AK300937,BC014637,BC032565,BC033558,CR602245 NP_671723,EAW58131,EAW58132,EAW58133,CAH05418,BAG57732,BAG61029,BAG62566,AAH32565,AAH33558,Q49AQ3,Q8N5B7 Hs.270525 CerS5|FLJ25304|MGC45411|Trh4 LAG1 longevity assurance homolog 5|lag1 longevity assurance homolog 5 (s. cerevisiae) protein-coding 1343383 LASS6 LAG1 homolog, ceramide synthase 6 18615156,15489334,14702039,12477932,11329013,20406683,19723703,19912991,20103619,20379614 253782 AC009475,AC019086,AC097453,AI521447,AK023042,AK024891,AK091391,AK123214,AK172775,BC030800,BC035245,BC109284,BC109285,BE745491,BG206657,BX393696,NM_203463,GN344081 Q6ZMG9,NP_982288,BAD18757,AAH30800,AAI09285,AAI09286,Q32M63,CAY55976 Hs.506829,Hs.724377 CerS6|MGC129949|MGC129950 LAG1 homolog, ceramide synthase 6 (S. cerevisiae)|LAG1 longevity assurance homolog 6|lag1 longevity assurance homolog 6 (s. cerevisiae)|longevity assurance homolog 6 protein-coding 1342944 LAT linker for activation of T cells The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18683785,9489702,16938345,12646565,15100278,14722116,11048639,11607830,17652306,19343046,19018007,18645037,18579528,17938199,17492476,16906159,16464244,16460687,16236370,16160011,15745852,15699071,15659558,15489334,15449076,15153499,15144186,15029250,14996932,14702039,14696041,12857726,12847255,12570875,12515827,12477932,12438705,12359715,12186560,12084069,12077228,12029091,11756537,11752630,11572860,11390470,11368773,11279207,11259588,10942756,10811803,10781611,10562325,10506192,10488157,10469124,10449770,10204488,10072481,10021361,9891970,9846483,9729044,9529333,8995379,10224278,9846481,15696170,20875087,16467851,19380807,19427038,19615732,20237496,8798643,21102463 27040 NM_001014989,NM_014387,NM_001014987,NM_001014988,AC109460,CH471267,AF036905,AF036906,AJ223280,AK093815,AK307342,BC011563,BI769296,BI911769,CR592470,CR597721,CR602091,CR624409,FN432831,FN432832,FN432833,FN432834 NP_001014989,NP_055202,NP_001014987,NP_001014988,EAW52024,EAW52025,EAW52026,EAW52027,EAW52028,EAW52029,EAW52030,EAW52031,AAC39636,AAC39637,CAA11218,AAH11563,O43561,CBA11532,CBA11533,CBA11534,CBA11535 Hs.632179 LAT1|pp36 36 kDa phospho-tyrosine adapter protein|36 kDa phospho-tyrosine adaptor protein|linker for activation of T-cells family member 1|p36-38 protein-coding 1342914 LAT2 linker for activation of T cells family, member 2 This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq] 1549872 19183565,19808856,19879355,14722116,12514734,12486104,19343046,18645037,17993265,17277102,16713569,16160011,15745852,15489334,15153499,15010370,14702039,12853948,12477932,11124535,11042152,11003705,9373149,8812460,8808592,8125298 1549872 7462 NG_023256,CR624255,NM_032464,NM_032463,NM_014146,AC005081,AF045555,CH471200,AF086239,AF161531,AF252611,AF252612,AF252613,AF252614,AF257135,AI492348,AK002099,AK092904,AK225150,AK290074,AK290916,AY190023,BC001609,BC006080,BC009204,BM468969,CR617481,CR619242 Q9GZY6,ACE87709,ACE87022,NP_115853,NP_115852,NP_054865,AAS07404,AAS07405,AAF74978,EAW69609,EAW69610,EAW69611,EAW69612,EAW69613,EAW69614,AAF29018,AAK37429,AAK37633,AAK37430,AAK37431,AAF91352,BAA92084,BAG52627,BAF82763,BAF83605,AAO63155,AAH01609,AAH09204 Hs.726075 HSPC046|LAB|NTAL|WBSCR15|WBSCR5|WSCR5 OTTHUMP00000213098|Williams-Beuren syndrome chromosomal region 15 protein|Williams-Beuren syndrome chromosomal region 5 protein|Williams-Beuren syndrome chromosome region 15|Williams-Beuren syndrome chromosome region 5|linker for activation of B cells|linker for activation of B-cells|linker for activation of T-cells family member 2|membrane-associated adapter molecule|non-T cell activation linker|non-T-cell activation linker|williams-Beuren syndrome chromosomal region 15 protein|williams-Beuren syndrome chromosomal region 5 protein|williams-beuren syndrome chromosome region 5 protein-coding 1349703 LATS1 LATS, large tumor suppressor, homolog 1 (Drosophila) The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. [provided by RefSeq] 1580863 17049657,16061636,16007220,15746036,15688006,15489334,15302935,15144186,12624101,12477932,12379777,12372621,9988269,7743921,19739119,19799973,20048001,20453000,20508983,10518011,9988268,10831611,15220930,15122335,18640976,18413746,18158288,20936779 9113 NM_004690,AL358852,AL583963,BX276089,CH471051,AF104413,AF164041,AK310422,BC002767,BC015665 NP_004681,EAW47792,AAD16882,AAD50272,AAH02767,AAH15665,O95835,Q59FN4,Q6PJG3 Hs.716697 WARTS|wts LATS (large tumor suppressor, Drosophila) homolog 1|WARTS protein kinase|h-warts|large tumor suppressor homolog 1|serine/threonine-protein kinase LATS1 protein-coding 1314216 LATS2 LATS, large tumor suppressor, homolog 2 (Drosophila) This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq] 1580863 15746036,10871863,12853976,15131260,10673337,19008013,18927464,18565851,17049657,17015431,16564011,16413547,15688006,15265683,15147269,14702039,12477932,18158288,19501585,19739119,19799973,19855428,19937137,20335167,20379614,20508983 26524 NM_014572,AL161613,AL356285,CH471075,AB028019,AB209897,AF207547,AK123520,AK314235,BC036437,BC071572,BC127671,BQ774580,DB452765 NP_055387,CAH71526,CAI15861,EAX08286,EAX08287,BAA92381,BAD93134,AAF80561,BAG36905,Q59EB4,Q9NRM7,AAI56424,AAI72545 Hs.78960 FLJ13161|KPM LATS (large tumor suppressor, Drosophila) homolog 2|kinase phosphorylated during mitosis protein|large tumor suppressor homolog 2|serine/threonine kinase KPM|serine/threonine-protein kinase LATS2|serine/threonine-protein kinase kpm|warts-like kinase protein-coding 1606285 LAX1 lymphocyte transmembrane adaptor 1 19536175,12359715,18029348,18981125,15843560,15489334,14702039,8125298,9373149,12477932 54900 NM_017773,NM_001136190,AC114402,CH471067,AK000347,AK225331,AK301076,AK301421,AY090784,BC069650,BC089408,DC414389 NP_060243,NP_001129662,EAW91489,EAW91490,EAW91491,BAA91101,BAG62682,BAH13480,AAM09818,AAH69650,AAH89408,Q8IWV1 Hs.272794 FLJ20340|LAX LAT-like membrane associated protein|OTTHUMP00000034095|linker for activation of x cells|lymphocyte transmembrane adapter 1|membrane-associated adapter protein LAX protein-coding 1604525 LAYN layilin 11294894,15913605,15489334,14702039,12975309,12477932,9786953 143903 NM_178834,AP002008,CH471065,AK055539,AK055654,AK293317,AK296231,AK298165,AY358554,BC025407,CR590889,CR608344,CR612367 NP_849156,EAW67143,EAW67144,EAW67145,BAB70946,BAB70978,BAG56836,BAG58952,BAG60438,AAQ88918,AAH25407,Q6UX15 Hs.503831 FLJ30977|FLJ31092 layilin protein-coding 1604281 LBH limb bud and heart development homolog (mouse) 20546612,20606007,19240061,18391951,17390236,16381901,16094384,15958514,15489336,14702039,12477932,11336496,11230166,11181995,11076863,9373149,8889548,8125298,18029348,20587334 81606 AF258555,AI302040,AK023425,AK027232,AK092206,AK223541,AK314598,AL136703,BC012373,BC109376,BC126434,NM_030915,AC104698,CH471053,AF110224,BC130415,BU687531,CN485291,EF025586 AAL36912,AAG23758,BAD97261,BAG37169,CAB66638,AAI09377,AAI26435,NP_112177,AAY24349,AAI30416,ABK30936,Q53QV2,CAL37943,CAL38159,ADR83474 Hs.567598,Hs.593113 DKFZp566J091|MGC104312|MGC163287 OTTHUMP00000201113|hLBH|protein LBH protein-coding 1347766 LBP lipopolysaccharide binding protein The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). Finally, this gene is found on chromosome 20, immediately downstream of the BPI gene. [provided by RefSeq] 1580863 8985160,8409400,11739189,9665271,18029348,19522765,19200604,19010986,18987746,18783308,18559343,18397383,18288274,18056918,18056482,16928689,16907704,16493079,16303759,15932345,15618154,15127192,14718574,12831460,12754215,12615620,12594207,12538700,12521224,12477932,12417309,12117913,11991204,11976738,11780052,11773072,11598069,11544322,11373419,10919979,10811873,10768924,10453023,10079194,9568897,9441745,9338787,9240454,9179291,8663389,8432532,7517398,7583357,11528597,2402637,12932360,2477488,19913121,20628086,16512634,19423540,19560454,19707138,19718443,20346360,20379614,20381257,20406964,20438785,20800603,20530747 3929 NM_004139,AF013512,AL080249,CH471077,L42172,X98657,AF105067,AK313625,AY344471,BC022256,BQ028088,CR592006,CR606921,CR613938,CR621941,M35533 NP_004130,AAC39547,CAC10462,EAW76033,AAA66446,EAW76034,CAA67226,AAD21962,BAG36385,AAR03787,AAH22256,AAA59493,P18428,Q8TCF0,ABM82320,ABM85360 Hs.154078 MGC22233 LPS-binding protein|lipopolysaccharide-binding protein protein-coding 736984 LBR lamin B receptor The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq] 1600215,2316868,2316857 8157662,12618959,15698635,15882967,15489334,15324660,14718546,14702039,14701833,14617022,12490533,12490158,12477932,12438562,12118250,11846796,11034899,10828963,10744724,10390541,10049757,9878250,9373149,9169472,9003786,8838815,8663349,8157663,8125298,7679672,2847165,17353931,19913121,20628086,19331822,19645629,19940018,20576617 1600215,2316868,2316857 3930 L25931,NM_194442,NM_002296,NG_008099,AC092811,CH471098,CQ834832,L25937,L25941,AB209514,AK125116,AK222834,AK303589,AK312258,AW504657,BC020079,BE243907,CR611515,CR626457 AAA59494,Q14739,ABM81975,ABM85153,NP_919424,NP_002287,EAW69741,EAW69742,EAW69743,EAW69744,CAH05631,AAA59495,BAD92751,BAD96554,BAG64605,BAG35190,AAH20079 Hs.435166 DHCR14B|FLJ43126|LMN2R|MGC9041|PHA integral nuclear envelope inner membrane protein|lamin-B receptor protein-coding 1606568 LBX1 ladybird homeobox 1 This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq] 8645601,19651985,15489334,15164054,12913067,12477932,11309850,7518789 10660 NM_006562,NG_009236,AL135794,CH471066,AJ004949,BC069156,BC136321,X74863,X90828 CAA62342,O60863,P52954,Q6LBH2,NP_006553,CAH72508,EAW49777,CAA06237,AAH69156,AAI36322,CAA52856 Hs.37128 HPX-6|HPX6|LBX1H|homeobox lady bird-like homeobox|ladybird homeobox homolog 1|ladybird homeobox protein homolog 1|transcription factor LBX1|transcription factor similar to D. melanogaster homeodomain protein lady bird late protein-coding 1347358 LBX2 ladybird homeobox 2 12477932,11386758,9847074 85474 NM_001009812,AC005041,CH471053,AY203953,AY305861,BC150517 NP_001009812,EAW99636,AAP34476,AAP74384,AAI50518,Q6XYB7,AAI60076 Hs.722114 LP3727 lady bird-like homeobox 2|lady bird-like homeobox 2 (drosophila)|ladybird homeobox homolog 2|ladybird homeobox protein homolog 2|ladybird-like homeobox 2|ladybird-like homeodomain protein 2|transcription factor LBX2 protein-coding 1605497 LBXCOR1 LBXCOR1 homolog (mouse) 19279021,18541116,17637780,16572171,15528197,17292623,19822783,20935630 390598 NM_001031807,AC009292,AY669507 NP_001026977,AAV74188,P84550,AAI68376 Hs.451224 CORL1|FUSSEL15|LBXCOR1 LBX1 corepressor 1|Lbxcor1 homolog|SKI family transcriptional corepressor 1|corepressor for LBX1|functional Smad-suppressing element on chromosome 15|functional smad suppressing element 15|fussel-15|ladybird homeobox corepressor 1|transcriptional corepressor CORL1 protein-coding 1346881 LCA3 Leber congenital amaurosis 3 9799089 3789 1318396 LCA5 Leber congenital amaurosis 5 This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternative splicing results in two transcript variants. [provided by RefSeq] 19172513,18000884,17546029,16082399,15489334,14574404,12642313,12477932,10631161,21190210,18334959,19503738,19800048,8889548 167691 NM_181714,NM_001122769,AL391840,CH471051,AK299314,AL832214,BC050327,BX648161,BE883302,CF890814,NG_016011 NP_859065,NP_001116241,CAC37303,EAW48705,EAW48706,BAG61324,AAH50327,Q86VQ0 Hs.21945 C6orf152 Lebercilin|OTTHUMP00000165989|leber congenital amaurosis 5 protein protein-coding 1345568 LCA5L Leber congenital amaurosis 5-like 17546029,15489334,12477932,10830953 150082 NM_152505,AF121781,AL163279,CH471079,BC026122,BC031059,BC043006,BX647793,BX648744,CR599880 NP_689718,AAD12066,CAB90455,EAX09641,EAX09642,EAX09643,EAX09644,AAH31059,AAH43006,O95447 Hs.517284 C21orf13|MGC33295 Lebercilin-like protein|OTTHUMP00000069084|OTTHUMP00000069085|leber congenital amaurosis 5-like protein protein-coding 737383 LCAT lecithin-cholesterol acyltransferase This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq] 1581773,1580863,1581787,1600654,1581779,1581780,1581769,1581781,1581778 1587806,11966470,11435418,3458198,4335615,10559507,12167653,15210842,3104518,19336370,19306528,19060910,19060906,18996102,18823627,18782872,18719109,18676680,18485513,18397721,18193043,18178167,17855807,17711302,17526537,17357073,17272829,17216278,17206937,17113061,16883530,16780378,16770077,16543491,16542392,16335952,16216249,16115486,16061733,16051254,15994445,15936482,15544352,15489334,15472210,15297675,15115696,15110745,15102891,14718574,14651331,12966036,12957688,12673583,12573451,12477932,12417987,12174215,12139471,12051518,12048121,12032172,11882335,10858436,9162740,8807342,8675648,8432868,8326012,8318557,7711728,7613477,7607641,6624548,6078131,3797244,3674753,2880847,2823898,2823801,2370048,2052566,1859405,1737840,1681161,1662503,1644835,1571050,1516702,1468226,806250,19913121,20571754,20628086,20634891,20679960,15654758,18922527,19170196,19515369,19625176,19671930,19687369,19692168,19698944,19800416,19878569,19948975,20031551,20160193,20167577,9829992,20714348,20855565,20972250,20864672 1581773,1581787,1600654,1581779,1581780,1581769,1581781,1581778 3931 NM_000229,NG_009778,AC040162,AF140503,AY422210,CH471092,M17959,S74079,X04981,BC014781,BT009748,M12625,M26268,X06537 NP_000220,AAD28484,AAR03499,EAW83190,AAA59500,AAB20750,CAA28651,AAH14781,AAP88750,AAA59498,AAA59499,CAB56610,P04180,Q53XQ3,Q9Y5N3 Hs.387239 lecithin cholesterol acyltransferase|phosphatidylcholine-sterol acyltransferase|phospholipid-cholesterol acyltransferase protein-coding 1349719 LCCS1 lethal congenital contracture syndrome 1 9683599 8012 1345859 LCE1A late cornified envelope 1A LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM] 16710414,15854049,11698679 353131 NM_178348,AL162596,CH471121 NP_848125,CAI19551,EAW53362,Q5T7P2,AAI46368,AAI53156 Hs.534645 LEP1 OTTHUMP00000014400|late cornified envelope protein 1A|late envelope protein 1 protein-coding 1349264 LCE1B late cornified envelope 1B 16710414,15854049,12477932,11698679 353132 NM_178349,AL162596,CH471121,BC031811,BC104232,BC104233,BC133657 NP_848126,CAI19550,EAW53363,AAI04233,AAI04234,Q5T7P3 Hs.375103 LEP2|SPRL2A late cornified envelope protein 1B|late envelope protein 2|small proline rich-like (epidermal differentiation complex) 2A|small proline-rich-like epidermal differentiation complex protein 2A protein-coding 1344293 LCE1C late cornified envelope 1C 16710414,15854049,11698679,20379614,20643763 353133 NM_178351,AL353779,CH471121 NP_848128,CAI20982,EAW53364,EAW53365,Q5T751,AAI40395,AAI46478 Hs.516429 LEP3 late cornified envelope protein 1C|late envelope protein 3 protein-coding 1354412 LCE1D late cornified envelope 1D 16710414,15854049,11698679 353134 NM_178352,AL353779,BG697954 NP_848129,CAI20981,Q5T752,AAI60112 Hs.490235 LEP4 late cornified envelope protein 1D|late envelope protein 4 protein-coding 1342802 LCE1E late cornified envelope 1E 737633 16710414,15854049,12477932,11698679 737633 353135 NM_178353,AL353779,CH471121,BC038391 NP_848130,CAI20980,EAW53366,EAW53367,Q5T753,AAI60110 Hs.250236 LEP5 late cornified envelope protein 1E|late envelope protein 5 protein-coding 1346167 LCE1F late cornified envelope 1F 16710414,15854049,11698679,18316326 353137 NM_178354,AL353779,CH471121 NP_848131,CAI20979,EAW53368,Q5T754,AAI40331,AAI46482,BAG73340 Hs.553712 LEP6 late cornified envelope protein 1F|late envelope protein 6 protein-coding 1351409 LCE2A late cornified envelope 2A 16710414,15854049,12477932,11698679 353139 NM_178428,AL139247,CH471121,BC119707,BC127647 NP_848515,CAI21685,EAW53371,AAI19708,Q5TA79 Hs.334054 LEP9 late cornified envelope protein 2A|late envelope protein 9 protein-coding 1347147 LCE2B late cornified envelope 2B This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq] 9344646,15854049,11698679,11329013,12477932 26239 NM_014357,AL139247,CH471121,AF005080,AF086289,BC117235,BC117237,BG211939 NP_055172,CAI21684,EAW53372,AAB83960,O14633,AAI46414 Hs.234766 LEP10|SPRL1B|XP5 late cornified envelope protein 2B|late envelope protein 10|skin-specific protein Xp5|small proline rich-like (epidermal differentiation complex) 1B|small proline-rich-like epidermal differentiation complex protein 1B protein-coding 1344616 LCE2C late cornified envelope 2C 16710414,15854049,11698679 353140 NM_178429,AL139247,CH471121 NP_848516,CAI21683,EAW53373,Q5TA81,AAI60113 Hs.553713 LEP11 late cornified envelope protein 2C|late envelope protein 11 protein-coding 1347104 LCE2D late cornified envelope 2D 16710414,15854049,11698679,12477932 353141 NM_178430,AL139247,CH471121,BC130603,BC130605 NP_848517,CAI21682,EAW53374,AAI30604,AAI30606,Q5TA82 Hs.490225 LEP12|SPRL1A late cornified envelope protein 2D|late envelope protein 12|small proline rich-like (epidermal differentiation complex) 1A|small proline-rich-like epidermal differentiation complex protein 1A protein-coding 1348988 LCE3A late cornified envelope 3A 16710414,15854049,12477932,11698679,18316326,19169255,19601998 353142 NM_178431,AL139247,CH471121,BC120933,BC120934 NP_848518,CAI21680,EAW53376,Q5TA76,AAI52958,BAI46950 Hs.553714 LEP13|MGC184217 late cornified envelope protein 3A|late envelope protein 13 protein-coding 1346486 LCE3B late cornified envelope 3B 19169253,16710414,15854049,12477932,11698679,20016497,20213803,20331852,20376060,20624365 353143 NM_178433,AL139247,CH878618 NP_848520,CAI21679,EAW50651,Q5TA77,AAI60117 Hs.553715 LEP14 late cornified envelope protein 3B|late envelope protein 14 protein-coding 1343921 LCE3C late cornified envelope 3C 19169253,16710414,15854049,12477932,11698679,20624365,20016497,20213803,20331852,20376060 353144 NM_178434,AL139247,AL356426,CH878618,BC130365,BC130367 AAI30368,Q5T5A8,NP_848521,CAI19188,EAW50650,AAI30366,ADR82782 Hs.490211 LEP15|SPRL3A late cornified envelope protein 3C|late envelope protein 15|small proline rich-like (epidermal differentiation complex) 3A|small proline-rich-like epidermal differentiation complex protein 3A protein-coding 1352688 LCE3D late cornified envelope 3D 19169255,16710414,15854049,15489334,12477932,11698679,20953190 84648 NM_032563,AL356426,CH471121,AB048288,BC069291,BC101784,BC120935,BC120936 NP_115952,CAI19187,EAW53377,BAB40643,AAH69291,AAI01785,AAI20936,AAI20937,Q0IJ72,Q0VAS7,Q9BYE3 Hs.244349 LEP16|MGC126833|SPRL6A|SPRL6B late cornified envelope protein 3D|late envelope protein 16|small proline rich-like (epidermal differentiation complex) 6A|small proline rich-like (epidermal differentiation complex) 6B|small proline-rich-like epidermal differentiation complex protein 6A|small proline-rich-like epidermal differentiation complex protein 6B protein-coding 1346899 LCE3E late cornified envelope 3E 16710414,15854049,11698679,19721433,12477932,20585627 353145 NM_178435,AL356426,CH471121,BC131716 NP_848522,CAI19186,EAW53378,AAI31717,Q5T5B0 Hs.490208 LEP17 late cornified envelope protein 3E|late envelope protein 17 protein-coding 1345430 LCE4A late cornified envelope 4A 16710414,15854049,15489334,12477932,11698679 199834 NM_178356,AL139247,BC113446,BC113448 NP_848133,CAI21686,AAI13447,AAI13449,Q5TA78,ADR82790 Hs.447955 LEP8|SPRL4A OTTHUMP00000016107|late cornified envelope protein 4A|late envelope protein 8|small proline rich-like (epidermal differentiation complex) 4A|small proline-rich-like epidermal differentiation complex protein 4A protein-coding 1352803 LCE5A late cornified envelope 5A 16710414,15854049,11698679,19601998,19896111 254910 NM_178438,AL135842,CH471121,AW291010 NP_848525,CAI23350,EAW53380,Q5TCM9,AAI40435,AAI56867 Hs.516410 LEP18|SPRL5A late cornified envelope protein 5A|late envelope protein 18|small proline rich-like (epidermal differentiation complex) 5A|small proline-rich-like epidermal differentiation complex protein 5A protein-coding 1343793 LCE6A late cornified envelope 6A 15854049,11329013 448835 NM_001128600,AL162596,CS300793,BG210316,DQ991251 NP_001122072,CAK32457,ABJ55982,A0A183 Hs.62927 C1orf44 chromosome 1 open reading frame 44|late cornified envelope protein 6A protein-coding 1353715 LCEP1 late cornified envelope pseudogene 1 15854049 450208 NG_006116,AL353779 pseudo 1342794 LCEP2 late cornified envelope pseudogene 2 15854049 450209 NG_006117,AL353779 pseudo 1346595 LCEP3 late cornified envelope pseudogene 3 15854049 450211 NG_006119,AL139247 pseudo 1348136 LCEP4 late cornified envelope pseudogene 4 15854049 450210 NG_006118,AL139247 pseudo 1344945 LCK lymphocyte-specific protein tyrosine kinase This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants, encoding the same protein, have been described. [provided by RefSeq] 1600225,1580863,1600221,2316557 17382937,17118402,17078813,17008721,17005671,16888650,16860758,16769579,16740747,16600997,16474166,16446405,16354835,16344560,16339550,16274251,16257509,16219325,16185072,16107303,16099425,15967991,15958529,15867154,15751964,15687496,15641485,15331563,15322115,15263807,15199125,15163734,15144186,15096483,15016553,17897956,17897955,14766232,14757743,14702039,14699120,14688329,14623872,14610044,14583609,14534291,14523017,14500983,12923183,12899942,12837766,12835311,12817007,12755691,12734017,12697812,12645944,12637327,12589038,12570875,12565834,12560083,12538589,12527887,12496362,12485116,12477932,12468540,12429743,12424250,12401726,12370810,12359715,12237775,12186560,12181444,12171035,12100025,12055221,12036857,12007789,11904433,11855827,11854499,11839738,11741956,11741929,11741599,11591716,11572860,11389730,11381116,11369760,11351273,11298344,11294897,11294838,11278738,11075717,11067948,10975838,10921922,10880360,10825200,10816433,10799879,10799874,10799545,10790433,10764799,10748115,10733577,10669745,10652356,10636863,10617656,10574931,10553045,10488096,10482988,10455176,10447714,10430626,10358157,10330160,10318843,10214954,10209036,9973453,9973379,9880255,9792645,9790917,9788619,9751747,9741627,9712716,10896916,9710204,9687533,7961936,7896837,7690989,7682059,7545683,7543024,7539106,7539035,7513045,7512963,7495859,3493153,3489486,3265417,3257410,2850479,2835736,2787474,2558056,2115123,2047859,1988541,1709155,1638019,1500851,1385527,214242,8671590,9989602,1548763,1535787,9344703,9269777,9043947,8883579,9621091,7774645,7539724,8648738,7680610,1622897,12628756,8887682,2040625,1535086,1491632,8870842,7494315,9123823,9036944,7522245,9341793,10422873,15371598,15186530,10208934,8871625,7871751,7831289,7853525,10364375,9075929,15976924,15638726,15078178,14965316,10642173,10544125,9705913,7859737,15892963,11525746,8246987,1351058,9624175,9573028,11431473,8910285,8294442,10449731,10383400,15980863,15671290,7486703,2470098,7852312,8794306,7513706,8650207,14625311,15554700,7504174,16245368,8618896,8506364,1579166,16116473,11739864,12884910,8943371,12614355,18029348,2014052,12732664,11048639,11827988,15489916,17652306,19439470,19201869,19201754,19192391,19168706,19109140,18991294,18792408,18714047,18541536,18424699,18314490,17998336,17932036,17910071,10918587,9685404,9664084,9488700,9461588,9446569,9403695,9341123,9312162,9257837,9195899,9178909,9178760,9121430,9092949,9091579,9047237,9045636,9038134,9020138,8995379,8945479,8939988,8879209,8864141,8798764,8797825,8702662,8692915,8663450,8636141,8626561,8626429,8576267,8576115,8551220,8473339,8405050,8262984,8258691,8139546,8114715,8086341,8077654,8062594,8020561,15696170,14993658,11278465,20555418,20541955,18683785,10858437,1382070,15784897,16195219,16293614,16374509,16461343,16818765,16899217,16938345,1850098,19167335,19592652,19776125,20035083,20040600,20056178,20064523,20237292,20379614,20421494,7657660,8104794,8798643,9032261,9169414,12660731,19343496,20372794,20729329,20538612,20098747,15085197,20300113,20305788,20971076 1600225,1600221,2316557 3932 NM_005356,NM_001042771,AL109945,AL121991,BN000073,CH471059,M21510,M26692,M26693,M36824,X14055,AA747421,AF228313,AJ865079,AK098027,AK303073,BC013200,CR594236,DA007906,DB122062,DB129997,M36881,U07236,U23852,X04476,X05027,X06369,X13529,NG_023387 NP_005347,NP_001036236,CAI22320,CAI22321,CAD55807,EAX07542,EAX07543,EAX07544,EAX07545,EAX07546,AAA59501,AAA59503,CAA32211,AAF34794,CAI23831,BAG53565,BAG64189,AAH13200,AAA59502,AAA18225,AAC50287,CAA28165,CAA28691,CAA29667,CAA31884,P06239,Q573B4,ABM82601,ABM85787 Hs.470627 LSK|YT16|p56lck|pp58lck OTTHUMP00000008640|OTTHUMP00000008740|OTTHUMP00000008741|T-lymphocyte specific protein tyrosine kinase p56lck|leukocyte C-terminal Src kinase|lymphocyte cell-specific protein-tyrosine kinase|p56(LSTRA) protein-tyrosine kinase|proto-oncogene tyrosine-protein kinase LCK|t cell-specific protein-tyrosine kinase|tyrosine-protein kinase Lck protein-coding 1347425 LCLAT1 lysocardiolipin acyltransferase 1 1580863 15152008,14702039,12975309,12477932,8889548,16620771,19075029,17675553 253558 NM_182551,NM_001002257,AC073255,AC132154,CH471053,AA455668,AK023269,AK095284,AK296965,AK297262,AK302562,AY358702,BC146817,BF439401,BF513499,BU674604,BX537607,BX647953,CF264801 NP_872357,NP_001002257,EAX00495,BAC04522,BAG59509,BAG59738,BAG63827,AAQ89065,AAI46818,Q6UWP7 Hs.468048,Hs.662770 1AGPAT8|AGPAT8|ALCAT1|FLJ37965|HSRG1849|LYCAT|UNQ1849 1-AGP acyltransferase 8|1-AGPAT 8|1-acylglycerol-3-phosphate O-acyltransferase 8|OTTHUMP00000125174|acyl-CoA:lysocardiolipin acyltransferase 1|lysocardiolipin acyltransferase 1 protein-coding 1351587 LCMT1 leucine carboxyl methyltransferase 1 LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM] 1580863 10600115,16189514,17724024,15489334,14702039,12477932,10810093,9373149,8125298,17207965 51451 NM_016309,NM_001032391,AC008741,AC133552,CH471145,AF037601,AF151826,AK025884,AK223364,AK225271,AK291885,AK314409,AL137283,AL560574,BC001214,BC014217,BF058787,BI459868,CR600134,CR611540,CR619407,CR623972 NP_057393,NP_001027563,EAW55771,EAW55772,EAW55773,EAW55774,AAF18267,AAD34063,BAB15270,BAD97084,BAF84574,BAG37031,CAB70677,AAH01214,AAH14217,Q9UIC8,ADQ32744 Hs.337730 CGI-68|LCMT|PPMT1 leucine carboxyl methyltransferase 1|protein phosphatase methyltransferase 1|protein-leucine O-methyltransferase protein-coding 1314097 LCMT2 leucine carboxyl methyltransferase 2 The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq] 12853982,16642040,15489334,12477932,10600115,9628581,16830365,17026958,12485877,15813917,16344560,17568008,19287006 9836 NM_014793,AC009852,DQ102852,AF265443,AK292587,AW505587,BC015949,AK300820,DB260484 NP_055608,AAY88744,AAF75774,BAF85276,AAH15949,O60294,BAG62475 Hs.200596,Hs.533913,Hs.727468 FLJ51321|KIAA0547|MGC9534|PPM2|TYW4 leucine carboxyl methyltransferase 2|p21WAF1/CIP1 promoter-interacting protein|tRNA wybutosine-synthesizing protein 4 homolog|tRNA yW-synthesizing protein 4 homolog|tRNA-Wybutosine-synthesizing protein 4|tRNA-yW synthesizing protein 4 protein-coding 1344178 LCN1 lipocalin 1 (tear prealbumin) The protein encoded by this gene belongs to the lipocalin family. Lipocalins are a group of extracellular proteins that are able to bind lipophiles by enclosure within their structures to minimize solvent contact. This protein may bind hydrophobic ligands and inhibit cysteine proteinases. It may also play a role in taste reception. [provided by RefSeq] 1580863 7606920,1400345,8999869,17353931,18334931,17945179,17869594,16249071,15489503,15489334,15461462,12613963,12613961,12613960,12591932,12477932,11850445,11727836,11287427,10558865,9759656,8898072,8500570,8276406,8112601,7679926,19586017,19770509 3933 NM_002297,AL161452,CH471090,L14927,BC065721,BC074925,BC074926,M90424,X62418,X67647 NP_002288,CAI14045,EAW88156,EAW88157,AAA18633,AAH65721,AAH74925,AAH74926,AAA61845,CAA44284,CAA47889,P31025 Hs.530311 MGC71975|PMFA|TLC|TP|VEGP VEG protein|Von Ebner gland protein|lipocalin 1-like 2|lipocalin-1|tear lipocalin|tear prealbumin protein-coding 1347368 LCN10 lipocalin 10 1580863 15363845,14702039,12477932 414332 AL355987,AK091788,AL832485,AY301271,BC036875,BC040963,BC046377,BC064596,BC133045,BC144440,BC144441,BC171741,NM_001001712 NP_001001712,CAQ09951,CAQ09952,AAQ81976,AAI33046,AAI44442,Q6JVE6 Hs.98132 epididymal-specific lipocalin-10 protein-coding 1350830 LCN12 lipocalin 12 Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM] 12477932,15363845 286256 NM_178536,AL807752,CH471090,AI681012,AY301272,BC031600,BC041168,BX281250,CR607386 NP_848631,CAI12752,CAM14423,EAW88317,EAW88318,EAW88319,EAW88320,AAQ81977,AAH41168,Q5SQ16,Q6JVE5,Q8IW14 Hs.440519 MGC34753|MGC48935 epididymal-specific lipocalin-12|lipocalcin 12 protein-coding 1603824 LCN15 lipocalin 15 12975309,12477932 389812 NM_203347,AL355987,AY358618,BC035124,BC093893,BC093895 NP_976222,CAM14252,AAQ88981,AAH35124,AAH93893,AAH93895,Q49AN5,Q6UWW0 Hs.413902 PRO6093|RP11-216L13.5|UNQ2541 MSFL2541|lipocalin-15 protein-coding 1354328 LCN1L1 lipocalin 1-like 1 414161,286310 AL732364,NG_022883,Y10826,AL772161 Q5VSP4 LCN1L1|bA430N14.2 pseudo 2307456 LCN1L2 lipocalin 1-like 2 20147318,20167578 653163 NG_009693,AL158826 LCN1L2|bA244N20.11 pseudo 69453 LCN2 lipocalin 2 1580863,2316514,2316490,2316515 20596614,20680102,16061852,16060857,15711640,15691834,15670845,15489334,15342556,15084671,12477932,12473066,11986950,11486081,10777108,10737800,10684642,10529240,10475571,10339412,9842963,9339356,8889548,8633182,8195592,8060329,7997842,7835423,7829063,7683678,7554268,20703446,20363104,20086155,20551266,16146540,1281792,18398717,18393169,18392050,18375251,18362300,18337554,18317594,18287807,18275504,18070344,18064607,18001501,17949711,17907186,17901710,17874137,17847728,17721627,17570904,17554627,17530720,17360238,17294443,17253959,17229907,17114340,16827865,16798734,16740002,16733850,16671099,16381001,16374475,16335952,16254208,19454345,19419554,19342674,19308044,19249502,19249501,19237579,19201208,19176795,19148711,19148153,19092815,19055468,19015448,18927283,18809975,18803290,18798264,18768801,18753796,18710473,18676832,18663364,18600028,18464118,18437016,20587610,20628624,20496473,15637066,19287180,19321980,19466389,19474273,19540040,19549696,19638718,19649660,19661117,19680166,19708926,19714584,19727808,19732769,19850388,19857721,19863663,19875582,19887608,19889214,19938135,19951994,20030526,20056755,20057160,20068352,20072790,20101218,20306447,20373132,20412947,20435938,20527084,20921623,20504881,20559153,19904630,20123318,20179686,20502037,20512104,20620526,20802417,20870707 2316514,2316490,2316515 3934 AL590708,CH471090,X99133,AK301694,AK316217,AW778875,BC033089,BF354583,BM977724,BP272828,BX644845,CA454137,CR542092,EU644752,NM_005564,N79823,S75256,X83006 ACD02429,NP_005555,CAI13823,CAI13824,EAW87748,EAW87749,EAW87750,CAA67574,BAG63166,BAH14588,AAH33089,CAG46889,AAD14168,CAA58127,P80188 Hs.204238 24p3|MSFI|NGAL 25 kDa alpha-2-microglobulin-related subunit of MMP-9|OTTHUMP00000022239|lipocalin 2|lipocalin-2|migration-stimulating factor inhibitor|neutrophil gelatinase-associated lipocalin|oncogene 24p3|p25|siderocalin protein-coding 1342771 LCN5 lipocalin 5 353176 AF082221 1349815 LCN6 lipocalin 6 15489334,15363845,14702039,14617364,12975309,12477932 158062 NM_198946,AL355987,CH471090,AF303084,AY301269,AY358598,BC040937,BC062746 NP_945184,CAQ09953,EAW88259,EAW88260,AAQ14494,AAQ81974,AAQ88961,AAH62746,P62502,ADR82687 Hs.522504 LCN5|UNQ643|hLcn5 OTTHUMP00000197341|epididymal-specific lipocalin LCN6|epididymal-specific lipocalin-6|lipocalin 5|lipocalin-5 protein-coding 1343207 LCN8 lipocalin 8 15363845,15164053,14702039,12477932 138307 NM_178469,AL355987,CH471090,AK090647,AK124003,AK126902,AY301268,BC024235,BC042109,BC128381,BC130465,BC132714 NP_848564,CAI12677,EAW88264,EAW88265,BAC03496,BAC86743,AAQ81973,AAI30466,AAI32715,Q6JVE9,Q6ZT51,Q8NBE9,ADR83321 Hs.323991 EP17|LCN5 epididymal-specific lipocalin-8|lipocalin 5 protein-coding 1345733 LCN9 lipocalin 9 1580863 15363845,15164053 392399 CH471090,AY301270,NM_001001676,AL158822 CAD13244,EAW88172,EAW88173,AAQ81975,Q8WX39,AAI46406,AAI48848,NP_001001676 Hs.532679 9230102I19Rik MUP-like lipocalin|epididymal-specific lipocalin-9 protein-coding 1601788 LCNL1 lipocalin-like 1 12477932 401562 NM_207510,AL807752,AK127160,AK127236,BC062468,BC137559,BC137567 NP_997393,BAC86862,BAC86897,AAI37560,AAI37568,Q6ZSQ0,Q6ZST4 Hs.695210 FLJ45224 lipocalin-like 1 protein protein-coding 1344018 LCO liver cancer oncogene 3014525,2846240 3935 1603601 LCOR ligand dependent nuclear receptor corepressor LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM] 16344560,19744931,19744932,20379614,15489334,15193453,15164054,14702039,12700765,12560079,12535528,12477932,11347906,17207965,20211142 84458 AB072899,DA507116,DA788606,NM_001170765,NM_001170766,NM_032440,AL162502,AL442123,CH471066,AB058698,AK023248,AK095345,AL832044,AL832106,AL834245,BC053359,BC128542 NP_001164236,NP_001164237,NP_115816,CAH70915,EAW49962,EAW49963,EAW49964,EAW49965,EAW49966,BAB47424,CAD91160,CAD91159,CAD38921,AAH53359,AAI28543,Q96JN0,ADQ32582 Hs.14555 FLJ38026|KIAA1795|MLR2|RP11-175O19.1 ligand-dependent corepressor|mblk1-related protein 2 protein-coding 1604965 LCORL ligand dependent nuclear receptor corepressor-like 19266077,18391952,18391951,16344560,14702039,12560079,12477932,8889548,17207965,20546612,20397748,19343178,20189936,20379614 254251 NM_153686,AC005768,AC079399,CH471069,AK054796,AK055258,AK096181,AK299939,AL133031,BC037322,BC062661,BM721547,CR591223,DA408372,AA625769,AI671443,BE254250,BX107807,BX354708,NG_015822,NM_001166139 NP_710153,EAW92786,EAW92787,EAW92788,EAW92789,BAB70892,BAG61772,AAH37322,Q8N3X6,ADQ32482,NP_001159611 Hs.446201,Hs.677572 FLJ30696|MLR1 LCOR-like protein|MBLK1-related protein|ligand-dependent nuclear receptor corepressor-like protein|transcription factor MLR1 protein-coding 1317977 LCP1 lymphocyte cytosolic protein 1 (L-plastin) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq] 1580863 20183869,19799649,18029348,2378651,2111166,17294403,17290393,16636079,16344560,16287074,16193335,16115810,15592455,15489334,14756805,14702039,12963694,12477932,11591653,11279160,10903868,10737800,10668786,10446213,9373149,8663066,8428953,8428952,8139549,8125298,7806577,3864729,3261603,3211125,2252891,1491005,9923600,12119179,19142861,19795399,20683899,20169155,21098731 3936 AL137141,CH471075,L05492,S54531,AB208984,AK058152,AK097275,AK129625,AK223305,AK300556,AK309009,AK312393,AY960627,BC007673,BC010271,BC015001,BC053839,BF893502,CR593418,CR617209,CR936795,NM_002298,DA820090,DB156931,J02923,M22300,M34426 NP_002289,CAI12167,CAI12168,CAI12169,EAX08757,EAX08758,AAA59529,BAD92221,BAG53443,BAD97025,BAG62262,BAG35310,AAH07673,AAH10271,AAA63236,AAB02845,AAA36184,P13796,Q53FI1,Q59GX5,Q5TBN3,Q5TBN5,ABM83861,ABM87183 Hs.710563,Hs.381099 CP64|DKFZp781A23186|FLJ25423|FLJ26114|FLJ39956|L-PLASTIN|LC64P|LPL|PLS2 L-plastin (Lymphocyte cytosolic protein 1) (LCP-1) (LC64P)|LCP-1|Lymphocyte cytosolic protein-1 (plasmin)|OTTHUMP00000018362|bA139H14.1 (lymphocyte cytosolic protein 1 (L-plastin))|plastin 2|plastin-2 protein-coding 732713 LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq] 1580863 20936779,12029088,7706237,11048639,11607830,17652306,18564921,18549800,17420479,17237383,17235283,17148460,16914752,16439309,16356554,16354835,16094384,15708849,15699071,15668918,15623534,15588985,15489334,15388330,15144186,14757747,14722089,14662865,12847255,12817019,12640123,12496421,12477932,12084069,11487585,11390650,11331248,11301322,10993915,10790433,10747096,10660534,10636929,10562326,10556826,10497204,10469124,10229072,10224278,10204582,10026222,10021361,9765283,9716598,9697839,9489702,9341187,9207119,9115214,9047237,8760799,8703037,8702662,8666952,8661136,16189514,10820259,11314042,8995445,8695800,10477741,15558067,12176364,12773374,14702039,16467851,19667077,19812192,20079431,7565724,9846482,20562827,20534575,20457812 3937 NM_005565,AC034199,CH471062,U44065,AK292890,AK296098,AK300000,AK310369,BC016618,BG911397,BT007273,U20158,AK122637,FN432830 NP_005556,EAW61478,EAW61479,EAW61480,AAA93308,BAF85579,BAG58851,BAG61819,AAH16618,AAP35937,AAC50135,Q13094,Q14759,ABM81607,ABM84789,CBA11531 Hs.304475 SLP-76|SLP76 76 kDa tyrosine phosphoprotein|SH2 domain-containing leukocyte protein of 76 kDa|SH2 domain-containing leukocyte protein of 76kD|SLP-76 tyrosine phosphoprotein|lymphocyte cytosolic protein 2|lymphocyte cytosolic protein 2 (sh2 domain-containing leukocyte protein of 76kd) protein-coding 1349602 LCS1 lymphedema-cholestasis syndrome 1 10968776 84565 1344800 LCT lactase The protein encoded by this gene belongs to the family 1 of glycosyl hydrolases. The protein is integral to plasma membrane and has both phlorizin hydrolase activity and lactase activity. [provided by RefSeq] 1600240,1580863 7487100,2460343,19422935,19370782,19299182,19174780,19168163,19161632,19156157,19034520,19010095,18980667,18974842,18940163,18605960,18568133,18544679,18468259,18454942,18396155,18275674,18237552,18194137,18179885,18080747,18042517,17911653,17706627,17701907,17651714,17574225,17507622,17478481,17451204,17327935,17311063,17159977,17120047,17020404,17015546,16876487,16400612,18030226,17934640,16391332,16301215,16109658,16024930,15831909,15716664,15667380,15479673,15365657,15178553,15107297,15106124,15054412,14753735,12915462,12795467,12692047,12459179,12011060,11788828,11751874,10677375,8257087,7523415,1902057,19913121,20585563,20587610,20616560,20628086,17143950,18704543,19039706,19138442,19453261,19799794,19844753,19889824,19947896,19955176,20015952,20190720,20225268,20362522,20390408,20430969,20509822 1600240 3938 NM_002299,NG_008104,AC011893,CH471058,M61834,M61839,M61840,M61841,M61850,X07994 NP_002290,AAX88924,EAX11622,AAA59504,CAA30801,P09848,Q4ZG58,Q6Y1I9,AAI56076,AAI56951 Hs.551506 LAC|LPH|LPH1 lactase-glycosylceramidase|lactase-phlorizin hydrolase|lactase-phlorizin hydrolase-1 protein-coding 1602287 LCTL lactase-like 15340161,14702039,12975309,12084582 197021 NM_207338,AC116913,CH471082,AK090598,AK311441,AY358729 NP_997221,EAW77781,BAG52192,AAQ89091,Q6UWM7,AAI48355,AAI52991 Hs.680983 FLJ33279|KLG|KLPH KL lactase phlorizin hydrolase|klotho gamma|klotho/lactase-phlorizin hydrolase-related protein|lactase-like protein protein-coding 1321219 LDB1 LIM domain binding 1 12477932,12381786,12153047,11882901,11751867,10640831,10083735,9872335,9799849,9736723,9503020,9452425,9315627,9214632,9209374,19117995,12925972,16407974,12239153,12642495,12792813,9391090,10767331,18583962,17910069,16815859,16713569,16189514,15489334,15231748,15164054,14743429,12727888,20423330,20447379,16385451,17437998 8861 NM_001113407,NM_003893,AJ243098,AL500527,CH471066,AB016485,AB250384,AF064491,AF068652,AK300588,AK308481,BC000482,BC009246,BT007054,CV575131 NP_001106878,NP_003884,CAB45409,CAH72217,EAW49722,EAW49723,EAW49724,BAA31991,BAE95402,AAC28341,AAC77818,BAG62286,AAH00482,AAH09246,AAP35703,Q86U70,ABM81698,ABM84859 Hs.454418 CLIM2|NLI CLIM-2|LDB-1|LIM domain-binding factor CLIM2|LIM domain-binding factor-1|LIM domain-binding protein 1|carboxy terminal LIM domain protein 2|carboxyl-terminal LIM domain-binding protein 2|hLdb1|nuclear LIM interactor protein-coding 1317395 LDB2 LIM domain binding 2 1580863 15231748,9799849,14702039,12477932,10861853,10431247,10083735,8125298,9373149,8876198,8918878,9192866,9315627,9880598,9853615,16344560,15489334,19997623,20379614 9079 NM_001290,NM_001130834,AC005690,AC097515,AC104656,AC105353,AC106894,CH471069,AF047337,AF052389,AF064492,AF064493,AF068651,AK095238,AK226029,AK294588,AK300119,AK312881,BC034019,BG704168,CR613635,DA166898 NP_001281,NP_001124306,AAY40912,EAW92765,EAW92766,EAW92767,AAC83552,AAC13274,AAC28342,AAC28343,AAC77817,BAH11819,BAH13216,AAH34019,O43679,Q4W5E7,ABM82907,ABM86097 Hs.714330 CLIM1|LDB1 CLIM-1|LDB-2|LIM binding domain 2|LIM domain-binding factor CLIM1|LIM domain-binding factor-2|LIM domain-binding protein 2|OTTHUMP00000217824|OTTHUMP00000217825|OTTHUMP00000217827|carboxyl-terminal LIM domain-binding protein 1 protein-coding 1351488 LDB3 LIM domain binding 3 This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1 and 2) have C-terminal LIM domains. [provided by RefSeq] 1580827,1581815,1580863 20066428,10427098,19472918,18513529,17394203,16476425,16344560,14702039,14660611,12477932,11842093,11076863,10727866,10391924,9734811,8681137,16385451,19377068,20201937,20474083,20868680 1580827,1581815 11155 NM_007078,NM_001080114,NM_001080115,NG_008876,AC067750,CH471142,EF179181,AA180065,AB014513,AF086263,AF276807,AF276808,AF276809,AJ133766,AJ133767,NM_001080116,AJ133768,AK093184,AK294696,AK297871,AK300692,AK304760,AL601484,BC010929,DA762127,DA898241,F33274,BC023609,DC357269,NM_001171610,NM_001171611 NP_001073585,NP_009009,NP_001073583,NP_001073584,EAW80322,EAW80323,EAW80324,EAW80325,EAW80326,EAW80327,EAW80328,EAW80329,ABN05284,BAA31588,AAQ14316,AAQ14317,AAQ14318,CAB46727,CAB46728,CAB46729,BAG57855,BAG60197,BAG62375,BAG65515,AAH10929,O75112,AAI11458,NP_001165081,NP_001165082 Hs.657271 CMD1C|CYPHER|FLJ35865|KIAA01613|KIAA0613|LDB3Z1|LDB3Z4|LVNC3|ORACLE|PDLIM6|ZASP|ldb3z1|ldb3z4 LIM domain-binding protein 3|PDZ and LIM domain 6|Z-band alternatively spliced PDZ-motif protein|protein cypher protein-coding 736025 LDHA lactate dehydrogenase A The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq] 1580863,1600277,1600281,1300048 2334430,17220478,2434947,19276158,19021062,18821170,18534967,18521687,18039033,17483170,17178662,16766262,16344560,16132575,15635413,15592455,15489334,15240094,14760703,14702039,12712614,15231747,12629811,12555229,12477932,12160330,12145195,12107167,11276087,10897012,10508479,9373149,8327147,8125298,7908613,5014440,3838278,3000353,2315312,1959923,1953713,1445373,1297552,11582518,11125887,15710247,20951115,20677014,18814027,19668225,19838163,19847924,19923867,7273846,20877624,21124955 1600277,1600281 3939 CR608553,CR609869,CR610018,CR610180,CR610402,CR611272,CR611478,CR611744,CR611919,CR612314,CR612498,CR612926,CR612986,CR612995,CR614197,CR615630,CR615816,CR616140,CR616218,CR616887,CR617621,CR618314,CR619244,CR619251,CR620165,CR620388,CR620612,CR620695,CR620732,CR620965,CR621983,CR622058,CR622663,CR623133,CR623502,CR623598,CR623867,CR624433,CR626503,DA609380,DB502157,X02152,NM_005566,NM_001135239,NG_008185,AC084117,CH471064,X03077,AK026515,AK130035,AK130105,AK130587,AK223078,AK296089,AK296667,AK298834,AK307477,AY423727,BC067223,BG424022,BM995301,BU507758,CD243986,CR456775,CR541714,CR591694,CR592232,CR592389,CR592881,CR593479,CR594030,CR594292,CR595202,CR595638,CR596495,CR597065,CR599307,CR599995,CR601009,CR601944,CR602113,CR602464,CR602916,CR604911,CR604947,CR605162,CR605310,CR605642,CR606407,CR606561,CR606884,CR607173,CR607397,CR607656,CR607825,CR608002,BG760757,DC392310,DC396757,NM_001165414,NM_001165415,NM_001165416,NR_028500 CAA26088,P00338,NP_005557,NP_001128711,EAW68395,EAW68396,EAW68397,CAA26879,BAC85389,BAD96798,BAG58843,BAG59264,BAH12879,AAS00490,AAH67223,CAG33056,CAG46515,NP_001158886,NP_001158887,NP_001158888 Hs.2795 GSD11|LDH-M|LDH1|LDHM|PIG19 L-lactate dehydrogenase A chain|LDH muscle subunit|LDH-A|LDH-M|OTTHUMP00000165206|cell proliferation-inducing gene 19 protein|lactate dehydrogenase M|proliferation-inducing gene 19|renal carcinoma antigen NY-REN-59 protein-coding 1354252 LDHAL1 lactate dehydrogenase A-like 1 11990523,9847074,3838278,3793094 3940 NG_003016,AC092437,X02153 LDHAL1 pseudo 1345292 LDHAL2 lactate dehydrogenase A-like 2 3793094 3941,100190799 AL121997,NG_008633 LDHAL2 pseudo 1347892 LDHAL3 lactate dehydrogenase A-like 3 3180843 442013 NG_009318,AC009413 LDHAL3 pseudo 1353140 LDHAL4 lactate dehydrogenase A-like 4 3180843,3000353 158222 NG_001313,AF461457,AL592293 LDHAL4 pseudo 1346556 LDHAL5 lactate dehydrogenase A-like 5 3180843 729666 NG_008632,AL157788 LDHAL5 pseudo 1345599 LDHAL6A lactate dehydrogenase A-like 6A 737633 14702039,12477932,18351441 737633 160287 NM_144972,NM_001144071,AC027544,CH471064,AK131523,AY581313,BC014340 NP_659409,NP_001137543,EAW68387,EAW68388,BAD18662,AAS93432,AAH14340,Q6ZMR3,Q96L19 Hs.668877 LDH6A|MGC23940 L-lactate dehydrogenase A-like 6A protein-coding 1342929 LDHAL6B lactate dehydrogenase A-like 6B 1580863 12107167,15489334,14702039,12477932,15870898,20800603,20877624 92483 NM_033195,AC092756,CH471082,CS072266,AK058192,AY009108,AY642121,BC022034,HC007068,HC044517 NP_149972,EAW77566,CAI93404,BAB71710,AAG49399,AAT65080,AAH22034,Q9BYZ2,CBH19339,CBH30588 Hs.307052 LDH6B|LDHAL6|LDHL L-lactate dehydrogenase A-like 6B|lactate dehydrogenase A -like|lactate dehydrogenase A-like 6 protein-coding 1352174 LDHAL7 lactate dehydrogenase A-like 7 378485,100190800 AC010087,NG_008634 LDHAL7 pseudo 735463 LDHB lactate dehydrogenase B 1580863,1300048 20951115,8314553,16130169,18593994,17178662,16236267,15592455,15489334,12555229,12477932,12160330,11509017,11276087,10509905,10508479,10211631,9929983,8611651,8462975,3435492,2930497,2334429,1587525,1371976,1081369,11582518,11125887,15710247,7273846,20877624,20592382 3945 BC002362,BC015122,BC022835,BC071860,BT019764,BT019765,NM_002300,AC010197,CH471094,EU919185,X13794,X13800,AK129881,AK312328,AY189689,CR590702,CR591075,CR592578,CR596890,CR598156,CR600793,CR601136,CR602865,CR602943,CR603165,CR604960,CR605434,CR606657,CR609530,CR609967,CR612525,CR612775,CR617803,CR624226,CR624424,CR625734,CR625893,Y00711,AB209231,AL516910,CX867875,NG_017038,NM_001174097 AAH02362,AAH15122,AAH71860,AAV38569,NP_002291,EAW96448,EAW96449,ACF98331,CAA32033,BAG35250,AAO85222,Q5U077,ABM82780,AAV38570,CAA68701,P07195,BAD92468,NP_001167568,Q59G78 Hs.446149 LDH-H|TRG-5 L-lactate dehydrogenase B chain|LDH heart subunit|LDH-B|OTTHUMP00000165231|renal carcinoma antigen NY-REN-46 protein-coding 1344718 LDHBL1 lactate dehydrogenase B-like 1 3946,100289475 AL136221,NG_021974 LDHBL1 pseudo 1348419 LDHBP lactate dehydrogenase B pseudogene 2393406 3947 NG_001155,AL442646,M60601 LDHBL2|LDHBP pseudo 4145467 LDHBP3 lactate dehydrogenase B pseudogene 3 100129283 AC008517,NG_016809 pseudo 1349750 LDHC lactate dehydrogenase C Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq] 1580863 2440048,18930904,17935709,17178662,15489334,14985855,12477932,12438276,11377399,8318584,7382246,3175768,2930531,2844458,2596827,11582518,11125887,18368308,8614414,17207965,21124955 3948 NM_002301,NM_017448,NG_011816,AC027544,AC084117,CH471064,L15230,M24510,M24511,M24512,M24513,M24514,M24515,AF401094,AF401095,AF401096,AF401097,AK058181,AY286300,BC019249,BC064388,BC090043,BG717645,J02938,U13680,GU479374 NP_002292,NP_059144,EAW68389,EAW68390,EAW68391,EAW68392,EAW68393,EAW68394,AAN87112,AAA59508,AAP37402,AAH19249,AAH64388,AAH90043,AAA59507,AAA21348,P07864,ADG58108,ADQ32611 Hs.654377 CT32|LDH3|LDHX|MGC111073 L-lactate dehydrogenase C chain|LDH testis subunit|LDH-C|LDH-X|cancer/testis antigen 32|lactate dehydrogenase C4 protein-coding 1317689 LDHD lactate dehydrogenase D The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 20877624,19844255,12127981,15489334,12477932,11582518,11125887 197257 NM_153486,NM_194436,AC099508,CH471114,BM544922,AY092767,BC040279,BC047902 NP_705690,NP_919417,EAW95664,EAW95665,EAW95666,EAW95667,AAM50322,AAH40279,AAH47902,Q86WU2 Hs.380929 DLD|MGC57726 D-lactate dehydrogenase|probable D-lactate dehydrogenase, mitochondrial protein-coding 735594 LDLR low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. [provided by RefSeq] 1580510,1626106,1581823,1580998,1581826,1331525,1581824,1580863,2324626,2324630 11453971,11332639,11317361,11317192,11298688,11257257,11194026,11173876,11157985,11149418,11100124,11050659,10933493,10906332,10884290,10882754,10832106,10660340,10447263,10422803,10391209,10380922,10330445,10206683,10090484,9852677,9837937,9788750,9744476,9733438,9678702,9654205,9265653,9262405,9259195,9254862,9222758,9143924,9104431,9026534,9016531,8889549,8740918,8664907,8626535,8555255,8462973,8347689,8182149,8168830,8141835,8096412,7822276,7718019,7649549,7649546,7635482,7635461,7603991,7583548,7581403,7578052,7573037,7550239,6129958,3955657,3924410,3866240,3815525,3627182,3549308,3343347,3263645,3198114,3104336,3020025,3012527,3005267,2988123,14557872,14550622,14508510,12975003,12969990,12947119,12944120,12901493,12898587,12873747,12820708,12810610,12754519,12746448,12730724,12716819,12705331,12615904,12562867,12551936,12544508,12522687,12493918,12492446,12485531,12477932,12473547,12473254,12464675,12459547,12442279,12417285,12414836,12235180,12221107,12209363,12189808,12169628,12165956,12149270,12121347,12113284,12082592,12072496,12055704,12052488,12048680,12042130,12036962,12031600,12009418,12002911,11997513,11986215,11947895,11933210,11923123,11923121,11916007,11860839,11857755,11851376,11849659,11848618,11737238,11702052,11668640,11668627,11524740,11462246,2901412,2855802,2837085,2831865,2805380,2760205,2760198,2726768,2570157,2569482,2544509,2352257,2318961,1999337,1978682,1867200,1833771,1757095,1734722,1634609,1609792,1464748,1446662,1301956,19887822,17706090,20615707,20691829,20714348,20734064,20738937,20971364,20972250,19538517,14568562,2920733,226968,2777800,6091915,12671190,17142622,6299582,10827173,221835,6327078,8300609,19589204,16650578,16627557,16608402,16596945,16465405,16459141,16389549,16378661,16344560,16335952,16289238,16286607,16259478,16205024,16183066,16179341,16159606,16129683,16092059,16020744,16015283,15936313,15931608,15899484,15890894,15888448,15864114,15863833,15842735,15823288,15823280,15823276,15797858,15795426,15754974,15741231,15701167,15689450,15677715,15665085,15637307,15630635,15592455,15585340,15556092,15546598,15526154,15489334,15477777,15359125,15321839,15321838,15321837,15286151,15241806,15172466,15166224,15144588,15135251,15133863,15100232,15068387,15015036,14993243,14967814,14756670,14746139,14739284,14624402,14616764,14615367,19491387,19479237,19367093,19361455,19336475,19336370,19322023,19319977,19318025,19263529,19224862,19208450,19198609,19196236,19148831,19148283,19141871,19131662,19087220,19081415,19062533,19060911,19060910,19060906,19056482,19007590,18940289,18936517,18851860,18847225,18799458,18757057,18718593,18714375,18701038,18685438,18677035,18676680,18669884,18660489,18635818,18622260,18513389,18400033,18376126,18369154,18355452,18354102,18343813,18331356,18317771,18307033,18296645,18288382,18261733,18247305,18243212,18210030,18206115,18193044,18193043,18097620,18065781,18028451,18006500,17988659,17964958,17935672,17905649,17898945,17889283,17855807,17784865,17766366,17709443,17625505,17607901,17566095,17539906,17531953,17517690,17473053,17452316,17445538,17399720,17347910,17335829,17328821,17277381,17273844,17239995,17234631,17223614,17196209,17156886,17094996,17090611,17079229,17044844,16927291,16920108,16907851,16870193,16837242,16828076,16825289,16809787,16806233,16806138,16796766,16792510,16770077,16750665,16741934,16014965,11247302,9555943,20485444,20498851,20536507,20565774,20571754,20602615,20628086,20628808,20634891,20663204,20679960,20702785,20864672,17435765,17784784,19020990,19073363,19081568,19170196,19222187,19371225,19411563,19467224,19533020,19578796,19583244,19625176,19656773,19667110,19674976,19692168,19706701,19717150,19729601,19751943,19773416,19811272,19843101,19888660,19906111,19913121,19948739,19948975,19956635,20019594,20030366,20031551,20049331,20059631,20065615,20089850,20145306,20163833,20167577,20172854,20236128,20308432,20371611,20403997,20413733,20416077,20428891,20506643,20538126,20144596,16341674,20232416,20506408,6291781,6326146,20045108,20452591 1580510,1626106,1581823,1580998,1581826,1331525,1581824,2324626,2324630 3949 NM_000527,NG_009060,AC011485,AF217403,AY324609,AY504954,CH471106,CS173038,L00352,L29401,U59436,AA292214,AB209409,AK295612,AK296312,AK299038,AK300313,AY114155,BC014514,BT007361,BX648281,DA008286,DB081391,M28219,S40543,S70123,FJ525879,BM785950,DC306821,NM_001195798,NM_001195799,NM_001195800,NM_001195802,NM_001195803 NP_000518,AAF24515,AAP72971,AAR98971,EAW84168,EAW84169,EAW84170,EAW84171,EAW84172,CAJ33700,AAA56833,AAB02658,BAD92646,BAG58495,BAG59010,BAG61112,BAG62065,AAM56036,AAH14514,AAP36025,AAA59509,AAB22609,AAB30338,P01130,Q16479,Q59FQ1,Q6LCH2,Q6RCM4,Q9UH51,ABM84805,ACN81317,NP_001182727,NP_001182728,NP_001182729,NP_001182731,NP_001182732 Hs.213289,Hs.728190 FH|FHC|LDLCQ2 LDL receptor|low density lipoprotein receptor|low-density lipoprotein receptor|low-density lipoprotein receptor class A domain-containing protein 3 1643248 BW138_H protein-coding 1603477 LDLRAD1 low density lipoprotein receptor class A domain containing 1 12477932 388633 NM_001010978,AL353898,CH471059,BC103740,BC127708,BC127709,BC140760,BC144466,BC171743 NP_001010978,CAI22661,CAI22662,EAX06712,AAI27709,AAI27710,AAI40761,AAI44467,Q5T700 Hs.439583 low density lipoprotein receptor A domain containing 1|low-density lipoprotein receptor class A domain-containing protein 1 protein-coding 1606368 LDLRAD2 low density lipoprotein receptor class A domain containing 2 12477932 401944 AL590103,CH471134,AK127275,BC043362,BC146860,NM_001013693 CAI12128,EAW94993,BAC86913,AAI46861,Q5SZI1,NP_001013715 Hs.710255 low density lipoprotein receptor A domain containing 2|low-density lipoprotein receptor class A domain-containing protein 2 protein-coding 1605868 LDLRAD3 low density lipoprotein receptor class A domain containing 3 16303743,12477932,20379614,20410850 143458 NM_174902,AC026269,AC087277,AC129502,AL136146,CH471064,CS051393,AK075546,AK293930,AK299186,BC042754,BC136286,BC143823,BC143824 NP_777562,EAW68125,EAW68126,EAW68127,CAI72191,BAC11689,BAH11629,BAH12964,AAH42754,AAI36287,AAI43825,Q86YD5 Hs.726608 low-density lipoprotein receptor class A domain-containing protein 3 protein-coding 1606809 LDLRAP1 low density lipoprotein receptor adaptor protein 1 The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq] 1626106,1626107 12535754,12477932,12464675,12417523,12016260,11897284,11326085,19913121,20628086,12451172,12221107,15166224,14528014,19477448,18417616,17727637,17686643,16984970,16870701,16710414,16344560,16189514,16129683,15728179,15599766,15497461,15489334,14702039,12788851,12746448,12805363,19081568,20124734,20237496 1626106,1626107 26119 NM_015627,NG_008932,AL606491,AY389348,BX572623,CH471059,AK024397,AK091219,AK124554,AK309850,AK309853,AL117654,BC029770,DA930479 NP_056442,CAI16483,AAQ90407,CAM12863,EAX07872,EAX07873,EAX07874,EAX07875,BAB14908,BAG52309,CAB56030,AAH29770,Q5SW96,Q9H7R8 Hs.590911 ARH|ARH1|ARH2|DKFZp586D0624|FHCB1|FHCB2|MGC34705 LDL receptor adaptor protein|autosomal recessive hypercholesterolemia protein|low density lipoprotein receptor adapter protein 1 protein-coding 1344664 LDOC1 leucine zipper, down-regulated in cancer 1 The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq] 1580863 16093683,15772651,15716091,15670815,15588942,15489334,12712434,12477932,16189514,10403563,19060904 23641 NM_012317,AL109799,CH471170,AB019527,AF086537,BC003104,CR457088,CR598988,CR609965 NP_036449,CAC18891,EAW78004,BAA34364,AAH03104,CAG33369,O95751,ABZ92315 Hs.45231 BCUR1|Mar7|Mart7 breast cancer, up-regulated 1|leucine zipper protein down-regulated in cancer cells|protein LDOC1 protein-coding 1345067 LDOC1L leucine zipper, down-regulated in cancer 1-like 20562859,18029348,16093683,15716091,15461802,12477932,11230166 84247 NM_032287,AL023973,Z75407,AK126304,AK296479,AK313688,AL136553,BC018713,BC030232,BX648506,CR456439 NP_115663,CAI18781,BAG59119,BAG36437,CAB66488,AAH30232,CAG30325,Q6ICC9,Q9BQJ3,CAK54468,CAK54767 Hs.706701 DKFZp761O17121|Mar6|Mart6|dJ1033E15.2 leucine zipper protein down-regulated in cancer cells-like|mammalian retrotransposon-derived protein 6|protein LDOC1L protein-coding 1601831 LEAP2 liver expressed antimicrobial peptide 2 LEAP2 is a cysteine-rich cationic antimicrobial peptide (Krause et al., 2003 [PubMed 12493837]).[supplied by OMIM] 15489334,12493837,12477932,19852990,20038463,20379614 116842 NM_052971,AC004500,AJ409064,CH471062,AF143867,AJ306405,AJ409065,AY052782,BC070199,BX443829 NP_443203,CAC51515,EAW62306,EAW62307,CAC51306,CAC51516,AAL14242,AAH70199,Q7Z5F5,Q969E1 Hs.337588 LEAP-2 liver-expressed antimicrobial peptide 2 protein-coding 1347278 LECT1 leukocyte cell derived chemotaxin 1 This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 737626,1580863 10103018,18077449,17980151,16980969,16142856,15107420,14744535,12477932,11323410,10912526,10750556,10570955,9731231,20663886,20026108 737626 11061 NM_007015,NM_001011705,AB021290,AF050147,AL139085,AL139089,CH471124,AB005999,AB006000,AY368652,BC025659,CR541910 NP_008946,NP_001011705,BAA77384,AAC98971,CAI14108,CAI17074,EAW52047,EAW52048,BAA86262,BAA33443,AAQ72693,AAH25659,CAG46708,O75829,Q6UJZ0,CAI14107 Hs.421391 BRICD3|CHM-I|CHM1|MYETS1 BRICHOS domain containing 3|chondromodulin I|chondromodulin-1|chondromodulin-I|leukocyte cell-derived chemotaxin 1|multiple myeloma tumor suppressor 1 protein-coding 1313416 LECT2 leukocyte cell-derived chemotaxin 2 This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq] 1580863 8877413,9545637,9266841,19240061,15561249,15561248,15489334,15372022,15243190,15239100,12477932,11752456,10857804,9832057,9524238,20237496,20951486 3950 NM_002302,AB007546,AC002428,AC004763,CH471062,AK314092,AV661075,BC093670,BC101579,BI825931,D63521 NP_002293,BAA25669,AAB66905,AAC17734,EAW62201,BAG36787,AAH93670,AAI01580,BAA23609,O14960 Hs.512580 MGC126628|chm-II|chm2 OTTHUMP00000223349|chondromodulin-II|leukocyte cell-derived chemotaxin-2 protein-coding 735736 LEF1 lymphoid enhancer-binding factor 1 LEF1 is a nuclear protein that is expressed in pre-B and T cells. It binds to a functionally important site in the T-cell receptor-alpha (TCRA; MIM 186880) enhancer and confers maximal enhancer activity. LEF1 belongs to a family of regulatory proteins that share homology with high mobility group protein-1 (HMG1; MIM 163905) (Waterman et al., 1991 [PubMed 2010090]; van Genderen et al., 1994 [PubMed 7958926]).[supplied by OMIM] 2293188,2298717,2298720,2301908,1580863 7657162,9751710,12192039,9308964,18029348,19244345,19079342,19060910,18936100,18636547,18615589,18579517,18316418,17947518,17785445,17785436,17585052,17466981,17360796,17240357,17132729,17063141,16809766,16714285,16565724,16474850,16424171,16415175,16142310,16120831,15756419,15750622,15728254,15489334,15245424,15194563,15143193,15000148,14990565,14759258,12901858,12748295,12707037,12589056,12556497,12477932,12446687,12235165,12183361,12161443,12095232,12052822,12048204,12032083,11731474,11696550,11604490,11440173,11326276,10890911,11266540,10756202,10644691,9671491,9488439,9373149,9119228,9119227,8757136,8631802,8125298,7958926,7537238,2010090,1989880,1827423,1783375,15684397,9843967,12551949,15525529,20211142,20595513,16510874,19304756,11751639,12408825,10825188,14661054,16344550,19131506,19351848,19402906,19453261,19576624,19590514,19653274,19784072,20019092,20098615,20124220,20219685,20332099,20363964,20676368,18445004,18794125,19620402,20634891 2293188,2298717,2298720,2301908 51176 NM_016269,NM_001130713,NM_001130714,AC092539,AC097067,AC118062,AC123576,AY129650,CH471057,AF086339,AF198532,AF288571,AF294627,AK225772,AK294395,AK303143,AK303272,AL049409,BC040559,BC050632,CR595776,CR597256,CR603385,CR604746,AF203908,AK128255,DC405840,DC406065,NG_015798,NM_001166119 NP_057353,NP_001124185,NP_001124186,AAN06089,EAX06221,EAX06222,EAX06223,EAX06224,EAX06225,AAF13268,AAG01022,AAG26886,BAG57649,BAG64247,BAH13928,CAH56421,AAH40559,AAH50632,Q659G9,Q8IZI3,Q9UJU2,ABZ92402,NP_001159591 Hs.726506 DKFZp586H0919|FLJ46390|TCF1ALPHA LEF-1|OTTHUMP00000219736|OTTHUMP00000219737|T cell-specific transcription factor 1-alpha|TCF1-alpha|lymphoid enhancer binding factor 1|lymphoid enhancer-binding factor 1 protein-coding 1350904 LEFTY1 left-right determination factor 1 This gene encodes a member of the TGF-beta family of proteins. A similar secreted protein in mouse plays a role in left-right asymmetry determination of organ systems during development. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq] 19913121,20628086,20734064,10053005,17038673,16710414,15489334,15308665,12975309,12477932,11100524,10886363,9373149,8125298,19874624 10637 NM_020997,AF081504,AF081505,AF081506,AF081507,AL117348,CH471098,AF081512,AK129605,AK222714,AK309263,AK313115,AY358873,BC027883 NP_066277,AAC33967,CAI21799,EAW69760,AAD48144,BAD96434,BAG35937,AAQ89232,AAH27883,O75610,ABM87625 Hs.656214 LEFTB|LEFTYB left-right determination factor 1|left-right determination factor B|left-right determination, factor B|protein lefty-1|protein lefty-B protein-coding 1348079 LEFTY2 left-right determination factor 2 This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq] 1598793 10053005,9153275,3457014,17038673,16303743,15536155,15308665,14702039,12477932,12215426,11100524,10902804,10886363,9665343,9496783,9230066,20734064,20634891,16344560 1598793 7044 NM_003240,NG_008118,AF081508,AF081509,AF081510,AF081511,AL117348,CH471098,AF081513,AK027520,AK075344,AK094077,AK304549,BC035718,BC065929,CR591831,CR603549,U81523,AA922485,DA269806,NM_001172425 NP_003231,AAC32600,CAI21804,EAW69766,EAW69767,AAD48145,BAG51336,BAC11556,BAG65344,AAH35718,AAB53269,O00292,NP_001165896 Hs.520187 EBAF|LEFTA|LEFTYA|MGC46222|TGFB4 TGF-beta-4|endometrial bleeding associated factor|endometrial bleeding-associated factor|left-right determination factor 2|left-right determination factor A|protein lefty-2|protein lefty-A|transforming growth factor beta-4 protein-coding 1605790 LEKR1 leucine, glutamate and lysine rich 1 20372150,16344560,19010793,14702039,12477932 389170 DA075031,NM_001193283,NM_001004316,AC092993,AC106708,AC117392,CH471052,AK094480,AK131473,BC041967 NP_001180212,NP_001004316,EAW78718,EAW78719,EAW78720,EAW78721,EAW78722,BAD18618,Q6ZMV7 Hs.478048 FLJ16641|FLJ37161 OTTHUMP00000213222|leucine-, glutamate- and lysine-rich protein 1 protein-coding 1604741 LELP1 late cornified envelope-like proline-rich 1 17387579,16710414,15489334,12477932 149018 HC007078,HC044831,NM_001010857,AL161636,AX971667,BC087854,BC130507,BC130511 CBH19344,CBH30745,NP_001010857,CAI19557,CAF16775,AAH87854,AAI30508,AAI30512,Q5T871,ADR82795 Hs.125785 late cornified envelope-like proline-rich protein 1|novel small proline rich protein|novel small proline-rich protein protein-coding 1346619 LEMD1 LEM domain containing 1 15254688,12477932,20682177,17207965 93273 AC098936,CH471067,AB084764,AB084765,AB085610,AB096677,AB096678,AB096679,AB096680,NM_001001552,AB096681,AB096682,AK026628,BC036636,AK302392,AI923802,DC399934,NM_001199050,NM_001199051,NM_001199052,NR_037583 NP_001001552,EAW91554,EAW91555,EAW91556,EAW91557,EAW91558,BAD20779,BAD20780,BAD20781,BAD20782,BAD20783,BAD20784,BAD20785,BAD20786,BAD20787,BAG63707,AAH36636,Q68G75,NP_001185979,NP_001185980,NP_001185981,ADQ31927 Hs.655520 CT50|LEMP-1 LEM domain protein 1|LEM domain-containing protein 1|OTTHUMP00000035324|cancer/testis antigen 50 protein-coding 1313312 LEMD2 LEM domain containing 2 16303743,12477932,8889548,20558539,18029348,19851445 221496 BC051803,NM_181336,AL158049,CH471081,CQ782927,AK024858,AK026077,AK074959,AK127084,AK301083,AK309888,BC039864,BM978238,CR606517,DC340017,NM_001143944 NP_851853,CAI21527,CAI21529,EAX03750,EAX03751,CAF86155,BAC11316,BAG62687,AAH51803,Q8NC56,NP_001137416 Hs.444845 NET25|dJ482C21.1 LEM domain-containing protein 2|OTTHUMP00000222574|hLEM2 protein-coding 1343559 LEMD3 LEM domain containing 3 The MAN antigens, such as MAN1, are nuclear membrane proteins that are recognized by autoantibodies from a patient with a collagen vascular disease. Because MAN1 contains an LEM domain, the gene is also called LEMD3 (for 'LEM domain-containing-3').[supplied by OMIM] 1580863 15681850,15647271,15601644,15489854,15231748,11896184,20618940,10671519,17622481,17505164,17223882,17081983,16648637,16470551,19438932,20083694 23592 NM_014319,AC026124,AF263918,CH471054,AF112299,AK024954,AK295406,AK304317,AK312473,AL137533,BX390128,NG_016210,NM_001167614 AAF73293,EAW97148,EAW97149,AAD31593,BAG58357,BAG65169,CAB70796,Q9Y2U8,AAI67864,NP_055134,NP_001161086 Hs.505905 MAN1 LEM domain-containing protein 3|inner nuclear membrane protein Man1|integral inner nuclear membrane protein protein-coding 69166 LENEP lens epithelial protein The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq] 68892,1580863 7641850,10655141,16710414,15489334,12477932,11376938,8889548 68892 55891 BC069140,BC096714,BC098148,BC098246,BC098253,BM716801,NM_018655,AF144412,AL451085,CH471121,AB451457,AF268478 AAH69140,AAH96714,AAH98148,AAH98246,AAH98253,Q9Y5L5,NP_061125,AAD38378,CAI13265,EAW53152,BAG70271,AAF73074 Hs.272399 LEP503 OTTHUMP00000035554|lens epithelial cell protein LEP503 protein-coding 1317415 LENG1 leukocyte receptor cluster (LRC) member 1 15489334,12477932,10941842,16169070 79165 NM_024316,AC012314,CH471135,CU151838,CU457734,AF211966,BC014986 NP_077292,EAW72195,CAQ09587,CAP19116,AAG01393,AAH14986,Q96BZ8,ABM83146,ABM86343,ABM86344 Hs.590974 leukocyte receptor cluster member 1 protein-coding 1350052 LENG10 leukocyte receptor cluster (LRC) member 10 10941842 94057 AF211977 Hs.684553 protein-coding 1353076 LENG11 leukocyte receptor cluster (LRC) member 11 10941842 94058 AF211978 protein-coding 1344892 LENG3 leukocyte receptor cluster (LRC) member 3 10941842 79164 AF211968 Hs.631579 protein-coding 1345619 LENG6 leukocyte receptor cluster (LRC) member 6 10941842 79163 AF211971 protein-coding 1314652 LENG8 leukocyte receptor cluster (LRC) member 8 16713569,16344560,16239144,16189514,15146197,12477932,10941842,11572484,20936779 114823 NM_052925,AC008746,CH471135,CU207370,CU467002,AB067519,AF211973,AF211974,AF211975,AF318338,AL834532,BC028048,CN403513,CR624593,DB284556 NP_443157,EAW72248,EAW72249,EAW72250,CAQ52433,CAQ08955,BAB67825,AAL55845,CAD39188,AAH28048,Q8WYW0,Q96PV6,ABM83630,ABM85179,ABM86874,ABW03700 Hs.502378,Hs.723613 KIAA1932|MGC40108|pp13842 OTTHUMP00000199725|OTTHUMP00000211766|leukocyte receptor cluster member 8 protein-coding 1317999 LENG9 leukocyte receptor cluster (LRC) member 9 1580863 15489334,12477932,10941842 94059 NM_198988,AC008746,CH471135,CU207370,AF211976,BC015921 NP_945339,EAW72251,CAQ52435,AAH15921,Q96B70 Hs.590976 leukocyte receptor cluster member 9 protein-coding 1602075 LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM] 16630820,17081983,16964243,15791002,15632063,15489334,15302935,14702039,12477932,20196086,18469135,16307923 123169 NM_138792,AC090971,CH471082,AK055762,AK297972,AY302186,BC018147 NP_620147,EAW77432,EAW77433,BAB71006,BAG60282,AAP68819,AAH18147,Q8WVC0 Hs.567662 RDL RNA polymerase-associated protein LEO1|replicative senescence down-regulated leo1-like protein|replicative senescence downregulated leo1-like|senescence downregulated leo1-like protein-coding 69123 LEP leptin This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq] 1643130,2311130,2311134,2311137,2311132,2311124,2311125,2311127,2311131,2311126,2311140,1625125,1331525,1580863,1357910,1357909 16115391,20497020,20519646,11743056,17021346,17236585,17530161,18358569,18547265,18657007,18761104,19009296,19170196,19214176,19301149,19391127,19398923,19419266,19466592,19488934,19502655,19520793,19524014,19531256,19539983,19559018,19576209,19589139,19604093,19625176,19656776,19667019,19688109,19692168,19697123,19705241,19723917,19732895,19747414,19751193,19754412,19760027,19772655,19781705,19794290,19804472,19838920,19841291,19849856,19873684,19874574,19876927,19886360,19910644,19913498,19915520,19919993,19921265,19922035,19940178,19941883,19942621,15905523,15905315,15886225,15882975,15864530,15863950,15855322,15821102,15820811,15811876,15808376,15803114,15797495,15795476,15784711,15784704,15782310,15760495,15757855,15752580,15736116,15736103,15724240,15677491,15677474,15660115,15655824,15653206,15648019,15624271,15607649,15588162,15588161,15588160,15582127,15576385,15544427,15542348,15533361,15492859,15489334,15483214,15479128,15478389,15476444,15374699,15358050,15351798,15340103,15336575,15333744,15324935,15307204,15300888,15292320,15277432,15256287,15254881,15240636,15240518,15232612,15231997,15219792,15181040,15166121,15164950,15161768,15159310,15156414,15126576,15126241,15114526,15109449,15104370,15080789,15070752,15063934,15059070,15055477,15055469,15052530,15044670,15042602,15037014,15016839,15012781,14993491,12951634,12914539,12902351,12899679,12898374,12890940,12880122,12865594,12857430,12843185,12829648,12824284,12805399,12805252,12788897,12788860,12779248,12773447,12748507,12746757,12734788,12734209,12732844,12727933,12724016,12721156,12713059,12712467,12711260,12702488,12694970,12690205,12690084,12690082,12690081,12687277,12679465,12679442,12679437,12668159,12665505,12663125,12660878,12660261,12659876,12658369,12649069,12647279,12637980,12634434,12634431,12626032,12609752,12606591,12590942,12582219,12556356,12552573,12535698,12529499,12519883,12512839,12484512,12482897,12477932,12473840,12468269,12445819,12402972,12396559,12395215,12393845,12376297,12364439,12359239,12354677,12324651,12230820,12218380,12218376,12215445,12213831,12211425,12200109,12199340,12189588,12189581,12187394,19775291,19913442,20141628,20569445,20197188,20237333,20546344,20591628,20873117,18787400,20339829,20413520,20541434,20589829,20597904,17207965,20538960,20587319,20734064,20816195,20842437,20854423,21042325,20050765,20150891,20372853,20395593,20465992,17350295,15910756,14993217,12955866,12707489,12164325,10428856,19491387,19453261,19429119,19424644,19415994,19408304,19397477,19382181,19376162,19367093,19340711,19337797,19332528,19322011,19299541,19273568,19267370,19267279,19250936,19241089,19236341,19229195,19223200,19208597,19204185,19202898,19191138,19190112,19189686,19160571,19156569,19150454,19142102,19141993,19132239,19127383,19112600,19088762,19086053,19079651,19077438,19075139,19073905,19059729,19058789,19057526,18547340,18534134,18534061,18515891,18510797,18505467,18501706,18492761,18490929,18490835,18474470,18473418,18473416,18468820,18466078,18464752,18463145,18460775,18448790,18445880,18445667,18413223,18404969,18403928,18398047,18397989,18394743,18390991,18381870,18376301,18374411,18365276,18359113,18357374,18356846,18356738,18349107,18334610,18316358,18308368,18299467,18299466,18299465,18292831,18284032,18283238,18280066,18273796,18263705,18255222,18253488,18249383,18242170,18239655,18239579,9537324,19634986,19506390,19492417,19050975,19049975,19041299,19038795,19035456,19033693,19008309,19004982,19004538,19001191,18997680,18992263,18988190,18979162,18979105,18978578,18958929,18958774,18958356,18957939,18955751,18949391,18941624,18939509,18923972,18855010,18850205,18843191,18839053,18828733,18828732,18821585,18819946,18814267,18787032,18779635,18769731,18756258,18753993,18725053,18716356,18716353,18712185,18690407,18681781,18679012,18676680,18670142,18666562,18665387,18663995,18660489,18658052,18636124,18633111,18624112,18619412,18604373,18596833,18595130,18584199,18579252,18577878,18573568,18568078,18564365,18563679,18562232,18556347,18552206,18234641,18226448,18222172,18221467,18204121,18202542,18198306,18196243,18173522,18082739,18075970,18059035,18055420,18050615,18040853,18007248,18004080,18000615,18000612,17992641,17989154,17983356,17973271,17967974,17965621,17965293,17957164,17957153,17938644,17923273,17913045,17895848,17895321,17884293,17879022,17852540,17850913,17804136,17763005,17728393,17726024,17714215,17706208,17705690,17702747,17693966,17690262,17688465,17679810,17666470,17653093,17641728,17636087,17618952,17617917,17615382,17609506,17604668,17591803,17587397,17585917,17573060,17562334,17558893,17535427,17506117,17502770,17495032,17485120,17482294,17476615,17465693,17445536,17443329,17436104,17433782,17404022,17374708,17365928,17362752,16504019,16497805,16434209,16412323,16359991,16352686,16344560,16343040,16335797,16273647,16273205,16269446,16261186,16244494,16231024,16213321,16173077,16170833,16166222,16160698,16136023,16136022,16135994,16113562,16048798,16009333,15983324,15983199,15978856,15972940,15964364,15952938,15950978,15948239,15944317,15944217,15932773,15928249,15919610,17344504,17344214,17342078,17333366,17325688,17325687,17311679,17299381,17285096,17263085,17240472,17229323,17215165,17212806,17207170,17192493,17186687,17184143,17148566,17141244,17122358,17118479,17114907,17072262,17072067,17065346,17062814,17054914,17033261,17031518,17027833,17016694,17006991,17003027,16988079,16936761,16932309,16912864,16883064,16874844,16804073,16799400,16793957,16786343,16774845,16764962,16762576,16756630,16737635,16734391,16705078,16645018,16630717,16621515,16609020,16582918,16580675,16571841,16552343,16534235,16533767,17347881,14985328,14978271,14967380,14761840,14746672,14739054,14734764,14726619,14726256,14722031,14720418,14715869,14715859,14715846,14683458,14681862,14671171,14636218,14623061,14618446,14599116,14567439,14561193,14557480,14530607,14514348,14508221,14506615,12969578,12161541,12153747,12153737,12149424,12140788,12133430,12105281,12105280,12100031,12086939,12084725,12073010,12062855,12054648,12053815,12050272,12047393,12037648,12031914,12021212,12010881,12009346,12007531,12003376,11997182,11997181,11994543,11979399,11935372,11934840,11932568,11920898,11890967,11886494,11822578,11800057,11797013,11787735,11702849,11508653,11461187,11196643,11140838,11140377,11118025,11068878,11061506,9924798,9796811,9724081,9500540,9205417,9202122,9166907,9144295,8717050,8626726,8621021,8608603,7984236,7789654,7499240,1686014,3952,19249901,19884906,19025443,19913121,20093782,20484458,20562674,20628086,20642810,20664554,20673868,20733583,19952122,19959759,19965946,20008098,20019673,20038928,20047585,20058257,20070288,20097762,20146878,20171193,20183928,20185531,20200332,20201642,20203064,20204272,20220015,20222875,20232565,20237279,20306680,20416077,20452482,20453000,20462372,20468064,20492333,20500101,20502402,20504252,20517895,20520958,17125610,20054230,20382689,20396799,20482813,20140086,20215915,20455195,20633033,20712424,19955758,20826994,20841449,21114131 1643130,2311130,2311134,2311137,2311132,2311124,2311125,2311127,2311131,2311126,2311140,1625125,1331525,1357910,1357909 3952 NM_000230,NG_007450,AC018635,AC018662,AY996373,CH236947,CH471070,D63519,D63710,DQ054472,U43415,AF008123,AK313553,BC060830,BC069323,BC069452,BC069527,BU752306,D49487,DA762132,U18915,U43653 ADQ32891,NP_000221,AAX81413,EAL24315,EAW83640,BAA09787,BAA09839,AAY46797,AAC31660,AAB63507,BAG36329,AAH60830,AAH69323,AAH69452,AAH69527,BAA08448,AAA60470,AAC50400,P41159,Q4TVR7,Q6NT58 Hs.194236 FLJ94114|OB|OBS leptin|leptin (murine obesity homolog)|leptin (obesity homolog, mouse)|obese protein|obese, mouse, homolog of|obesity factor 1643260,1643439,1643497,1643500,1643511,2289166,2289223 BW191_H,BW101_H,BW258_H,BW257_H,BW256_H,SLEP5_H,SLEP9_H protein-coding 735832 LEPR leptin receptor Leptin (LEP; MIM 164160), an adipocyte-specific hormone that regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure, acts through the leptin receptor (LEPR), a single-transmembrane-domain receptor of the cytokine receptor family.[supplied by OMIM] 2311129,2311144,729297,2311138,2311139,2311141,2311142,1600611,1600612,1581846,1331525,1625125,1580863,1357910,1357909 19717488,11743056,18657007,19170196,19241089,19520793,19539983,19567438,19584180,19608021,19622243,19625176,19692168,19697123,19723917,19727025,19747414,19773373,19818126,19913498,19919993,19921265,19959759,20008098,20032477,20070288,20149225,20167575,20178606,20183928,20185531,20213209,20220325,20222875,20304616,20379614,20410123,20416077,20422702,20453000,20468064,20491703,20502402,20503258,20517895,15159310,15153666,15135067,15132731,15131772,15130412,15126576,15123629,15044660,15016839,14998906,14984939,14972512,14970363,14967380,14718574,14702039,14636218,14625131,14602796,14599116,14521752,12898374,12824284,12823393,12788897,12734179,12732844,12712467,12679465,12660261,12646666,12634434,12512839,19058789,19035456,19023160,19017403,19010917,19010916,18997673,18996102,18992263,18978578,18958356,18955751,18941624,18939509,18924534,18855010,18854995,18836419,18829234,18828733,18716356,18716353,18713300,18703626,18702008,18676680,18668212,18660489,18636124,18632178,18573568,18564365,18552512,18544975,18510797,18496130,18492761,18490929,18473416,18439701,18439548,18426866,18413223,18398047,18357374,18292831,18282109,18273796,18249219,18241826,18212354,18204169,18165436,18086776,18059035,18050615,18004080,17989154,17983356,17785359,17726024,17680264,17649682,17618952,17615382,17591803,17428620,17415990,17404022,17350295,17285096,17243864,17229951,17212806,17192493,17142261,17124363,17072067,17071538,17065694,17032406,17031518,17006991,16971225,16920065,16847749,16807515,16793957,16792872,16788891,16684815,16645018,16609020,16580675,16571841,16540470,16533767,16522905,16504019,16412323,16359991,16352686,16335952,16333525,16231024,16160698,16011872,15997246,15972940,15950978,15944317,15941977,15869602,15840566,15834329,15833934,15784711,15771593,15715521,15660115,15624271,15585384,15564891,15544427,15476448,15337805,15324935,15286449,15254881,15240636,15240518,15192829,15189365,15161768,12489569,12477932,12461680,12457453,12396559,12364439,12359239,12270921,12226096,12199340,12187394,12140788,12105280,12100031,12504075,12091248,12086939,12075579,12075576,12054170,12032747,12010881,12006639,11994543,11911959,11896492,11729160,11549688,11549273,11508653,11448122,11443193,11380591,11360161,11360155,11354636,11344130,11279102,11078732,11018044,10449753,10198230,9929394,9860295,9819414,9786864,9667233,9600917,9405487,9287054,9207021,9175732,9158141,9144432,9061609,8812446,8805376,8743992,8666155,8616721,8608603,8548812,11585385,16169070,19775291,20156757,20624279,20546344,20569445,17474147,19167335,9537324,19491387,19453261,19427969,19401628,19367093,19344216,19337797,19279251,19273568,19246519,19208204,19202898,19196818,19191138,19156569,19142102,19140314,19086053,19077438,19060910,19913121,20562674,20565774,20585554,20591628,20602615,20628086,20679960,20733583,20739548,20814201,20045163,17828512,20519646,20443680,20455195,11123508,20538960,20734064,20800603,20855565,20873117,21031055,21050724 2311129,2311144,729297,2311138,2311139,2311141,2311142,1600611,1600612,1581846,1331525,1625125,1357910,1357909 3953 AW302522,NG_015831,NM_002303,NM_001003679,NM_001003680,AC097063,AC119800,CQ860097,U59263,AI436180,NM_001198687,NM_001198688,NM_001198689,AA813024,AK001042,AK290208,BC031086,BC035120,BC131779,BX475249,U43168,U50748,U52912,U52913,U52914,U66495,U66496,U66497 NP_002294,NP_001003679,NP_001003680,CAH25983,AAB09673,NP_001185616,NP_001185617,NP_001185618,BAF82897,AAH31086,AAI31780,AAA93015,AAC23650,AAC50509,AAC50510,AAC50511,AAB07495,AAB07496,AAB07497,P48357,Q4G138,AAI60009 Hs.23581,Hs.723178 CD295|DKFZp686B1731|OBR LEP-R|OB receptor|OB-R|OTTHUMP00000010694|huB219|leptin receptor 2289443,2316884 BW413_H,GLUCO303_H protein-coding 1602868 LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Two alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq] 19615732,19846465,19862557,17277775,16396496,16303743,15489334,15044469,14702039,12477932,10455179,10951563,19088120,18996919,18566967 64175 NG_008123,NM_022356,NM_001146289,AC098484,CH471059,CS051227,AF097431,AF097432,AK025841,AK027648,AK027680,AK027697,AK075418,AK297980,AK300210,BC004160,BC015309,BC068461,BC091513,BC108311,BC143961,BC143962,BE675748,BT007039,CR602313,CR602565,DC404420,R67284,CR749690 NP_071751,NP_001139761,EAX07142,EAX07143,EAX07144,EAX07145,CAI72109,AAG31018,AAG31019,BAB15256,BAB55264,BAB55291,BAB55305,BAC11608,BAG60290,BAG61980,AAH15309,AAI08312,AAP35688,Q32P28,Q68CW0,CAH18474 Hs.720014 GROS1|MGC117314|OI8|P3H1 growth suppressor 1|leprecan|leucine- and proline-enriched proteoglycan 1|prolyl 3-hydroxylase 1 protein-coding 1312081 LEPREL1 leprecan-like 1 LEPREL1 belongs to a family of collagen prolyl hydroxylases required for proper collagen biosynthesis, folding, and assembly (Vranka et al., 2004 [PubMed 15044469]).[supplied by OMIM] 1580863 20379614,19436308,18519826,18487197,16344560,15489334,15063763,15044469,14702039,12477932,10449603,8889548 55214 NM_018192,NM_001134418,AC016966,AC063939,AC099660,CH471052,AJ430351,AK001580,AK056447,AK125134,BC005029,BU621129,BU737886,DA720646,DA879789 NP_060662,NP_001127890,EAW78109,EAW78110,EAW78111,CAD23039,BAA91769,BAG51712,BAG54151,AAH05029,Q8IVL5 Hs.374191 FLJ10718|MLAT4|P3H2 leprecan-like protein 1|myxoid liposarcoma associated protein 4|myxoid liposarcoma-associated protein 4|prolyl 3-hydroxylase 2|prolyl 3-hydroxylase 3 protein-coding 1313881 LEPREL2 leprecan-like 2 LEPREL2 belongs to a family of collagen prolyl hydroxylases required for proper collagen biosynthesis, folding, and assembly (Vranka et al., 2004 [PubMed 15044469]).[supplied by OMIM] 1580863 19204726,15489334,15063763,15044469,14702039,12477932,9074930,8723724,19773279 10536 NM_014262,CH471116,U47924,AJ430349,AK025976,AK096771,AK126766,AK297917,BC017217,BC067251,BC080630,BQ009002,CR598012,U47926,AB209320 NP_055077,EAW88731,EAW88732,EAW88733,EAW88734,AAB51312,CAD23037,BAG60235,AAH17217,AAH67251,AAH80630,AAC50464,Q59FY9,Q8IVL6,BAD92557,AAI56267,AAI57129 Hs.631655 GRCB|HSU47926|P3H3 B protein|gene rich cluster, B|leprecan-like 2 protein|leprecan-like protein 2|prolyl 3-hydroxylase 3|protein B protein-coding 1353937 LEPROT leptin receptor overlapping transcript 737633,1580863 16712791,18042720,9207021,16303743,15489334,12477932,19913121,20624279,20628086,14702039,19907080,20416077,8889548 737633 54741 AK094801,CA434795,NM_001198681,NM_001198683,NM_017526,AC119800,CH471059,CQ783702,CQ860091,CQ878351,AK074841,AK130096,AK309370,BC011027,BC056250,BI715133,CB140261,CR541647,CR541737,Y12670,AK023598,AK026175,BC140007,BU677319,BX360952,HH768651 NP_001185610,NP_001185612,NP_059996,EAX06527,EAX06531,CAF86819,CAH25980,CAH59519,BAG52014,AAH11027,AAH56250,CAG46448,CAG46537,CAA73211,O15243,ACE87610,ACE86923,CBX85065 Hs.23581 FLJ37482|FLJ90360|LEPR|OB-RGRP|OBRGRP|VPS55 DnaJ (Hsp40) homolog, subfamily C, member 6|OB-R gene-related protein|leptin receptor gene related protein|leptin receptor gene-related protein|leptin receptor overlapping transcript protein protein-coding 1316198 LEPROTL1 leptin receptor overlapping transcript-like 1 1580863 19876004,19907080,16344560,16303743,16189514,15489334,12975309,12477932,11342119,11042152,20734064 23484 AY277595,AY358674,BC000642,CR541735,CR541760,CR605624,CR620833,DA258969,HH768647,NM_015344,AC026979,AC044849,CH471080,CQ860103,CQ878348,CS051155,AF063605,AF161461,AK075363,NM_001128208 BAG52122,AAQ18034,AAQ89037,AAH00642,CAG46535,CAG46560,O95214,Q6FHL7,Q9P040,ABM82823,ABM86009,CBX85063,NP_001121680,NP_056159,EAW63468,EAW63469,EAW63470,CAH25986,CAH59518,CAI72073,AAC98697,AAF29076 Hs.146585 HSPC112|Vps55|my047 leptin receptor overlapping transcript-like 1 protein-coding 1352340 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 1580863 18029348,19797662,12477932,10486213,18628306,19318571,19168126,17925330,17606466,15489334,15138253,14706454,12665801,20877624 3954 NG_013063,AC105448,CH471131,NM_012318,AF061025,AK293572,AK310563,AL133650,BC014500,BC021208 NP_036450,EAW82560,EAW82561,AAD13138,BAG57043,CAB63769,AAH14500,AAH21208,O95202,ABM84532 Hs.120165 LETM1 and EF-hand domain-containing protein 1, mitochondrial|Mdm38 homolog|leucine zipper-EF-hand-containing transmembrane protein 1 protein-coding 2293112 LETM1P1 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1 11549311 390597 NG_007651,AC110048 pseudo 2293160 LETM1P2 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2 100131934 NG_007659,AC008751 pseudo 2306324 LETM1P3 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3 100151646 NG_007658,AC018442 pseudo 1322565 LETM2 leucine zipper-EF-hand containing transmembrane protein 2 8889548,12477932,11549311 137994 CB242043,DC398640,NM_001199659,NM_001199660,NM_144652,AC087623,CH471080,AK058138,AK289944,AK302317,AK302474,AL832241,AY173945,BC024250,BC029541,BC069830 NP_001186588,NP_001186589,NP_653253,EAW63317,EAW63318,BAB71680,BAF82633,BAG63655,BAH13720,AAO49715,AAH29541,Q2VYF4 Hs.696457 FLJ25409 LETM1 and EF-hand domain-containing protein 2|LETM1 domain-containing protein LETM2, mitochondrial|leucine zipper-EF-hand containing transmembrane protein 1-like protein|leucine zipper-EF-hand-containing transmembrane protein 1-like protein-coding 1344708 LETMD1 LETM1 domain containing 1 2314918,2314917 16934181,17207965,20877624,16762630,19435525,19208263,18045496,16949218,16278390,14702039,14691448,12879013,12477932,12061725,9373149,8125298,20423485,20591135 2314918 25875 NM_015416,NM_001024668,AC087884,CH471111,AF195651,AF315598,AF329277,AI313513,AK000639,AK057866,AK123080,AK126372,AK127540,AK225836,AK301898,AK301955,AK304707,AK315119,AL050286,AY259835,AY259836,BC000395,BC019274,BC064943,BM549678,BX343550,CR590466,CR591933,CR595375,CR596903,CR600835,CR602850,CR603920,CR605694,CR612978,CR613739,CR618203,CR623560 NP_056231,NP_001019839,EAW58166,EAW58167,EAW58168,EAW58169,EAW58170,EAW58171,EAW58172,AAK34885,AAL26878,AAL56993,BAG54519,BAH13580,BAH13594,BAH14243,BAG37574,CAB43387,AAP85624,AAP85625,AAH00395,AAH19274,AAH64943,Q6P1Q0,ADQ32592 Hs.655272 1110019O13Rik|DKFZp586A011|HCCR-1|HCCR-2|HCCR1|HCRR-2 LETM1 domain-containing protein 1|cervical cancer 1 proto-oncogene protein p40|cervical cancer 1 protooncogene|cervical cancer proto-oncogene 2 protein|regulator of TP53 protein-coding 2289877 LEUTX leucine twenty homeobox 17963489,11181995,20379614 342900 NM_001143832,AC005393,CH471126,CR746510 NP_001137304,EAW56915,A8MZ59 Hs.451638 arginine-fifty homeobox-like pseudogene|hCG1657112|putative leucine-twenty homeobox protein-coding 1350319 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene encodes a member of the glycosyltransferase superfamily. The encoded protein is a single-pass type II Golgi membrane protein that functions as a fucose-specific glycosyltransferase, adding an N-acetylglucosamine to the fucose residue of a group of signaling receptors involved in regulating cell fate decisions during development. Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Alternatively spliced transcript variants that encode different isoforms have been described, however, not all variants have been fully characterized. [provided by RefSeq] 1302739,2302204,1580863 19020755,19061953,10341080,16385447,16341674,14702039,12477932,12110169,9878264,9187150,11346656,12486116,10935626 1302739,2302204 3955 NM_001166355,NM_002304,NM_001040168,NM_001040167,NG_008109,AC092488,AY124582,CH236953,CH471144,AF193612,AK096284,BC014851,BM854210,U94354 NP_001159827,NP_002295,NP_001035258,NP_001035257,AAM93542,EAW87250,EAW87251,EAW87252,EAW87253,EAW87254,AAF07187,BAG53248,AAH14851,AAC51360,Q8NES3 Hs.159142 SCDO3 OTTHUMP00000201073|beta-1,3-N-acetylglucosaminyltransferase lunatic fringe|lunatic fringe homolog (drosophila) protein-coding 1347735 LGALS1 lectin, galactoside-binding, soluble, 1 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq] 1580863,2316551,2316526,2316550 17884770,19064001,19492862,19506091,19520156,19561030,19635795,19688976,19730683,19860718,19898636,19900702,20006954,20200618,17353931,12761501,16130169,11256614,19550395,19454697,19412433,19363525,19287997,19287070,19171142,19155496,19148478,19128029,19125585,19116313,19103599,19032754,19011096,18991278,18838383,18824694,18802059,18796645,18791848,18691335,18671640,18662664,18633135,18630998,18581052,18570123,18519761,18431251,18315601,18292532,18258591,18223683,18007053,17984174,17880528,17649808,17616672,17603562,17537433,17535296,17523619,17438085,17390012,17304502,17269744,17182582,17177840,17110462,17043243,16940423,16818733,16785517,16751364,16636291,16530434,16388708,16381901,16247730,16051185,16033063,15972675,15929990,15910247,15862866,15778371,15690107,15663199,15556941,15556936,15489336,15489334,15461802,15297883,15050916,14769876,14693917,14617626,14612929,14550305,14507657,12853445,12823983,20332322,18947333,20549082,20657665,12810474,12665801,12615972,12527107,12477932,12271131,12125737,12008046,11937561,11850528,11846886,11709720,11522829,11146440,11076863,10950114,10764829,10642604,10591208,10490978,10425546,10369126,9683529,9572443,9264263,8872948,8449510,8432540,8063692,7869048,7795414,7750127,7501023,3611046,3065332,3020551,2910856,2719964,2719646,2383549,1996404,1988031,1713454,1602151,19913121,20053628,20157731,20399482,20525878,20628086,20728947,20644118,20363255,19886821,20570633,20592339,20596638,20828557 2316551,2316526,2316550 3956 NM_002305,CH471095,M57678,Z83844,AB097036,AK312161,AL832117,BC001693,BC020675,BT006775,CR456511,EU363770,J04456,S44881,X14829,X15256,GN043360,HI179170 NP_002296,EAW60178,AAB00777,CAB42897,BAC77389,BAG35095,AAH01693,AAH20675,AAP35421,CAG30397,ACA58297,AAA36170,AAB19412,CAA32938,P09382,Q15954,CAL37536,CAK54541,CAK54840,ABM83189,ABM86391,CAA33328,CAX48935,CBX53893 Hs.445351 DKFZp686E23103|GAL1|GBP 14 kDa laminin-binding protein|14 kDa lectin|HBL|HLBP14|HPL|S-Lac lectin 1|beta-galactoside-binding lectin L-14-I|gal-1|galaptin|galectin 1|galectin-1|lactose-binding lectin 1|putative MAPK-activating protein PM12 protein-coding 1315798 LGALS12 lectin, galactoside-binding, soluble, 12 1580863 11435439,15489334,15131127,12477932,11283015 85329 NM_033101,NM_001142535,NM_001142536,NM_001142537,NM_001142538,AP001591,CH471076,AF222694,AF222695,AF244974,AF244975,AF244976,AF244977,AF310686,AF310687,AK313851,BC028222 NP_149092,NP_001136007,NP_001136008,NP_001136009,NP_001136010,EAW74151,EAW74152,EAW74153,EAW74154,EAW74155,AAF34676,AAF34677,AAK77328,AAK77329,AAK77330,AAK77331,AAG40863,AAG40864,BAG36579,AAH28222,Q96DT0,Q9NZ03 Hs.502774 GAL12|GALECTIN-12|GRIP1 galectin 12|galectin-12|galectin-related inhibitor of proliferation protein-coding 1344564 LGALS13 lectin, galactoside-binding, soluble, 13 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq] 1580863 19087972,19497882,19777530,19813218,19818512,19844942,17207965,10527825,18791734,18539259,18186153,17618748,15489334,15193867,15009185,12477932,12459492,11742106,10571079,10395961,6856484,20509161 29124 NM_013268,AC005205,AM259729,CH471126,AF117383,AY055826,BC066304,BC069312,FJ613336,FJ613337,FJ613338,HC007070,HC044563 ADQ32924,NP_037400,CAJ97436,EAW56910,AAF22001,AAL09162,AAH66304,AAH69312,ACR09638,ACR09639,ACR09640,Q1M314,Q9UHV8,CBH19340,CBH30611 Hs.23671 GAL13|PLAC8|PP13 beta-galactoside-binding lectin|gal-13|galactoside-binding soluble lectin 13|galectin 13|galectin-13|lectin, galactoside-binding, soluble, 13 (galectin 13)|placental protein 13|placental tissue protein 13 protein-coding 1602105 LGALS14 lectin, galactoside-binding, soluble, 14 This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 15489334,12477932,11997112,16831268,19497882,19023099,17975119,17207965 56891 NM_203471,NM_020129,AC006133,CH471126,AF123762,AF267852,AF367430,AF367431,AF367432,AI167958,AK312040,BC022257,BG434228,BQ007347,FJ613341,FJ613342,HC044597 NP_982297,NP_064514,EAW56912,EAW56913,AAP97241,AAF78953,AAK56284,AAK56285,AAK56286,BAG34977,AAH22257,ACR09643,ACR09644,Q8TCE9,CBH30628,ADQ32203 Hs.24236 CLC2|MGC22235|PPL13 Charcot-Leyden crystal protein 2|gal-14|galectin-14|placental protein 13-like|placental protein 13-like protein protein-coding 735390 LGALS2 lectin, galactoside-binding, soluble, 2 The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq] 1580863,1581852,1581853 19380789,19578796,19726041,20379614,20500087,20098747,18029348,19330599,19182073,19013708,18506375,18230628,17999373,17517687,17497114,17493152,17098239,17040205,16940423,16468038,15990958,15489334,15461802,15356130,15129282,12477932,10591208,8449510,8411163,8262940,3020551,1988031,1375225,19913121,20628086 1581853 3957 NM_006498,NG_012096,AL022315,CH471095,M87860,BC029063,BC059782,CD701729,CR456512,CR541972,CR542000,M14079,M87842 NP_006489,CAB42834,EAW60167,AAA59512,AAH29063,AAH59782,CAG30398,CAG46770,CAG46797,AAA36171,AAA59513,P05162,Q6PIT8,CAK54542,CAK54841 Hs.531776 HL14|MGC75071 S-Lac lectin 2|beta-galactoside-binding lectin L-14-II|gal-2|galectin 2|galectin-2|lactose-binding lectin 2|lectin, galactoside-binding, soluble, 2 (galectin 2) protein-coding 736304 LGALS3 lectin, galactoside-binding, soluble, 3 1580863 18024302,18997617,19016746,19064001,19271150,19278794,19556244,19603745,19633306,19690136,19699526,19706535,19723119,19747906,19755493,19798881,19818774,19818782,19843071,19940114,20014549,20056110,20080851,20144269,20384870,20490454,9162064,14961764,19479862,19332433,19309568,19291534,19291362,19286570,19207946,19199318,19153476,19137262,19136890,19124005,19074869,19074165,19053747,19020999,19020721,18988806,18951731,18942707,18836743,18757439,18676377,18670355,18657294,18630998,18594826,18584353,18581271,18556657,18542048,18495537,18460740,18455493,18438928,18418527,18415710,18395901,18384511,18319555,18302943,18292532,18288410,18263896,18096829,18089806,18045960,18008332,17949550,17906980,17889671,17888402,17728499,17597183,17592963,17544840,17534895,17515507,17481580,17420249,17385862,17221114,17189612,17090543,17082191,17056590,16996782,16818789,16804396,16738336,16722927,16702978,16651632,16600178,16549783,16530434,16518858,16424226,16369807,16365873,16289162,16285957,16244583,16184379,16112008,16045783,15887854,15867344,15843888,10745073,10704522,10536372,10089212,9582341,9520085,9501082,9447709,9439577,9271684,8889548,8813152,8581828,8449510,8390986,8253806,11160123,10961987,8253805,8063692,8061935,7947821,7729540,7682704,7600101,7573347,2402511,2261464,2022338,2009535,1988031,1917996,18695044,11146440,15645276,15643504,15604089,15579437,15561101,15555581,15501810,15489334,15386597,15362030,15326483,15279903,15205467,15181153,14611647,14558920,12963125,12878156,12823983,12767519,12714580,12696064,12673672,12642626,12615069,12477932,12439750,12438311,12375039,12366402,12213909,12112826,11856751,11839755,11724777,11532191,11522829,20450430,20156641,20695889,20401558,20130888,20800603,20807768,19830550,19781269,19913121,20040515,20628086,20713592,20198455,20363921,20372914,20600357,20698585,20565834,19799084,20204403,20682656,20729207 3958 BG332134,CD518618,NG_017089,NM_001177388,NR_003225,AB086821,AF031425,AL139316,CH471061,U10300,AB006780,AB209391,AF266280,AK314929,BC001120,BC053667,BC068068,BC128253,BC128403,BQ645629,BU681070,BX161455,BX641090,CR456897,CR542097,CR592906,CR597327,CR599127,CR611593,CR614497,M35368,M36682,M57710,M64303,S59012,NM_002306,HI179168 NP_001170859,NP_002297,BAC45249,AAB86584,EAW80658,EAW80660,BAA22164,BAD92628,AAG44701,AAG44702,BAG37435,AAH01120,AAH53667,AAH68068,CAD61918,CAE46042,CAG33178,CAG46894,AAA88086,AAA36163,AAA35607,AAB26229,P17931,Q6FGL0,Q6MZI9,Q6NVH9,Q86TY5,Q8IXB9,Q9H2J5,Q9H2J6,ABM83520,ABW03507,CBX53892 Hs.531081 CBP35|GAL3|GALBP|GALIG|L31|LGALS2|MAC2 35 kDa lectin|IgE-binding protein|MAC-2 antigen|carbohydrate-binding protein 35|galactose-specific lectin 3|galectin-3|laminin-binding protein|lectin L-29|lectin, galactose binding, soluble 3 protein-coding 1352457 LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq] 1580863 19544526,20237496,17353931,8390986,8034587,18029348,19291534,19153476,19017490,18646789,18594176,18490383,18450743,17949550,17131321,17091456,16740002,16518858,16335952,15489334,15231701,15084671,14758079,14702039,12754519,12477932,11980646,11867635,11146440,10077627,9501082,9495353,9013622,8813152,7698018,7583357,1917996,20019050,20583127 3959 AC100788,CH471099,AK055977,AK057776,AK293183,AK295442,AK301040,AK301444,AK307665,BC002403,BC002998,BC015761,BQ649131,CR592307,CR594407,CR595010,CR603304,CR606873,CR608142,CR608444,CR610951,CR613600,CR619022,L13210,X79089,NM_005567 NP_005558,EAW89543,EAW89544,EAW89545,EAW89546,BAG51600,BAG56725,BAG58382,BAG62653,BAG62970,AAH02403,AAH02998,AAH15761,AAA36193,CAA55699,Q08380,ABM83150,ABM86350 Hs.514535 90K|BTBD17B|MAC-2-BP L3 antigen|MAC2BP|Mac-2-binding protein|basement membrane autoantigen p105|galectin-3-binding protein|lectin galactoside-binding soluble 3-binding protein|mac-2 BP|serum protein 90K|tumor-associated antigen 90K protein-coding 1351726 LGALS4 lectin, galactoside-binding, soluble, 4 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq] 1580863 19903339,9162064,19192249,18539029,17545668,16940423,15883199,15546874,15489334,12477932,11971864,9310382,8889549,8063692,16169070,20445255 3960 NM_006149,AC022144,AC104534,CH471126,AA130458,AA583424,AB006781,AF014838,AK290269,AK296194,AK296604,BC003661,BC005146,BC034750,BT007032,CR536544,U82953 NP_006140,EAW56819,EAW56820,BAA22165,AAC51763,BAF82958,BAG58923,BAG59217,AAH03661,AAH05146,AAH34750,AAP35679,CAG38781,AAB86590,P56470,Q6FHZ4 Hs.5302 GAL4|L36LBP L-36 lactose-binding protein|antigen NY-CO-27|gal-4|galectin 4|galectin-4|lactose-binding lectin 4 protein-coding 1343899 LGALS5 lectin, galactoside-binding, soluble, 5 (galectin 5) 729015 729015 3961 1346485 LGALS6 lectin, galactoside-binding, soluble, 6 (galectin 6) 3962 1350412 LGALS7 lectin, galactoside-binding, soluble, 7 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:653499) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq] 1580863 19596268,19615732,19885589,19148478,19012243,18418527,16788763,15489334,15342556,13679866,12523890,12477932,11706006,10500176,9760227,9697310,9305847,8889548,7729568,7534301,20382700,17044979,20546628,20562859 3963 NM_002307,AC022144,CH471126,BM681659,BP225960,CR456917,CV575179 NP_002298,EAW56817,CAG33198 Hs.707031 GAL7|LGALS7A galectin 7|galectin-7 protein-coding 2306147 LGALS7B lectin, galactoside-binding, soluble, 7B The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:3963) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq] 7534301,18315601,16788763,15489334,15342556,13679866,12477932,11706006,9760227,7729568,16169070 653499 AW015224,BC042911,BC061588,BC073743,L07769,U06643,NM_001042507,AC022144,AX497005,CH471126 EAW56818,AAH42911,AAH61588,AAH73743,AAA67899,AAA86820,P47929,NP_001035972,CAD48636 Hs.558355 GAL7|Gal-7|HKL-14|LGALS7|MGC75149|MGC88745|PI7 galectin 7B|galectin-7|galectin-7B|keratinocyte lectin 14|lectin galactoside-binding soluble 7|p53-induced gene 1 protein|p53-induced protein 1 protein-coding 1354427 LGALS8 lectin, galactoside-binding, soluble, 8 This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 729012,1580863 19009371,19395456,19407390,20044599,12851289,8692978,19268462,18849583,18539029,18456665,18024965,17580315,17481580,17339281,16368432,16344560,16189514,15753078,15489334,14758080,12881409,12569102,12477932,12234517,12223276,11839721,11675018,11494049,10980616,10852818,10697573,7852431,20800603,15342556,20858220 729012 3964 NM_201545,NM_006499,NM_201543,NM_201544,AF193806,AL136105,AL359921,CH471098,AB209914,AF074000,AF074001,AF074002,AF342815,AF342816,AF468213,AK098613,AK296061,AU117713,AY037304,BC015818,BC016486,BI758016,BU561073,BU630272,CR593714,CR606435,CR617625,EF467046,L78132,X91790,BP280070,BP371701,DB053616 NP_963839,NP_006490,NP_963837,NP_963838,AAF19370,CAI13765,CAI13766,CAI13767,CAI13768,CAI13769,CAI13771,CAI13772,CAI13773,CAI13774,EAW70053,EAW70054,EAW70055,EAW70056,EAW70057,BAD93151,AAD45402,AAD45403,AAD45404,AAK16735,AAK16736,AAL77076,BAG58824,AAK69827,AAH15818,AAH16486,ABQ63077,AAB51605,CAA62904,O00214,Q59E97,Q5T3P6,Q5T3P7,Q5T3P9,Q5T3Q0,Q5T3Q3,Q96QS7,ABM87017,ABW03852 Hs.4082,Hs.708114 Gal-8|PCTA-1|PCTA1|Po66-CBP OTTHUMP00000037957|OTTHUMP00000037958|OTTHUMP00000037960|Po66 carbohydrate binding protein|galectin 8|galectin-8|galectin-8g|po66 carbohydrate-binding protein|prostate carcinoma tumor antigen 1 2299934,2299935 PRSTS333_H,PRSTS334_H protein-coding 736794 LGALS9 lectin, galactoside-binding, soluble, 9 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 20574007,19335620,19776007,20206131,20484929,9045665,12761501,19100864,19005181,18977853,18485114,18401566,18264727,18005988,17907924,17596995,17449641,17446336,17167046,17156439,17069754,16286920,16116184,16012760,15837748,14758084,14702039,12714580,12646627,12477932,12421975,12223516,12115481,11823532,9642261,9373149,8125298,17353931,18258591,18050192,20209097,19538882 3965 AK301624,BC034392,BC105942,BC105944,BC110340,CR597107,CR598297,CR602208,CR604285,CR608609,CR614567,CR616420,CR622120,CR626506,Z49107,NM_002308,NR_024043,AB040130,AC015688,AJ288083,CH471159,AB003517,AB005894,AB006782,AB008492,AK097892,AK126017,AK223232,AK296031,NM_009587 BAG58799,BAG63109,AAI05943,AAI05945,AAI10341,CAA88922,O00182,Q3B8N1,Q53FQ0,Q8WYQ7,NP_033665,NP_002299,BAB83623,BAB83624,BAB83625,CAB93851,EAW51037,EAW51038,EAW51039,EAW51040,EAW51041,EAW51042,EAW51043,EAW51044,EAW51045,BAF76327,BAA31542,BAA22166,BAF76328,BAG54277,BAD96952 Hs.81337 HUAT|LGALS9A|MGC117375|MGC125973|MGC125974 OTTHUMP00000163275|ecalectin|gal-9|galectin 9|galectin-9|lectin, galactose binding, soluble 9|tumor antigen HOM-HD-21|urate transporter/channel protein protein-coding 2298932 LGALS9B lectin, galactoside-binding, soluble, 9B This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq] 16344560,16341674,12477932,11997339 284194 NM_001042685,AC015818,AK290263,AK296659,BC105943,BM769345,DA668702 NP_001036150,BAF82952,BAG59256,AAI05944,Q3B8N2 Hs.462402,Hs.610820 FLJ58146|FLJ75081 gal-9B|galectin-9 like|galectin-9 pseudogene|galectin-9-like protein A|galectin-9B protein-coding 2298931 LGALS9C lectin, galactoside-binding, soluble, 9C This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq] 17207965,16344560,16341674,12684513,12477932,11997339,11971863 654346 NM_001040078,AC107983,AL353997,AK315818,BC073889,BM769737,DA426549 ADQ32656,NP_001035167,BAF98709,AAH73889,Q6DKI2 Hs.462402 MGC125972 gal-9C|galectin 9 like|galectin-9-like protein B|galectin-9C|lectin, galactoside-binding, soluble, 9 (galectin 9) pseudogene protein-coding 1352680 LGCR Langer-Giedion syndrome chromosome region 1684953 3966 733103 LGI1 leucine-rich, glioma inactivated 1 This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided by RefSeq] 737768,1580863 9879993,19268539,19191227,18711109,18625862,18355961,17875918,17296837,16787412,16707245,16518856,15827762,15489334,15349881,15164054,15079011,15079010,15047712,15009222,12975309,12821932,12771268,12601709,12477932,12217514,12205652,12095917,11978770,11810107,16385451,17067999,19387870,19552651,19778537,19780791,19796686,7647791,16990550,20580615,20659151,20863412 737768 9211 NM_005097,NG_011832,AL157396,AL358154,CH471066,AB209408,AF055636,AF473548,AK289706,AK303956,AK309416,AY358885,BC022500,CR621199,CR621328,DC326684 NP_005088,CAH73837,CAH73838,CAI14981,CAI14982,EAW50051,EAW50052,EAW50053,BAD92645,AAC99316,AAM22074,BAF82395,BAG64882,AAQ89244,AAH22500,O95970,Q59FQ2,ABM83297,ABM86506 Hs.533670 EPITEMPIN|EPT|ETL1|IB1099 epitempin-1|leucine-rich glioma-inactivated protein 1 protein-coding 1321270 LGI2 leucine-rich repeat LGI family, member 2 16021519,16014869,15489334,14702039,12477932,12217514,12095917,12023020,11572484,9110174,8619474,20183877,20863412 55203 NM_018176,AC113614,CH471069,CS083233,AB067503,AF052098,AF467955,AJ487516,AJ487958,AK001537,AK058023,AK126093,AL833647,BC101759,BC101761 Q6ZTZ2,Q8N0V4,AAI01762,NP_060646,EAW92828,EAW92829,EAW92830,CAI96003,BAB67809,AAM49553,CAD31784,CAD32305,BAA91746,BAC86435,AAI01760 Hs.12488 FLJ10675|KIAA1916|LGIL2|MGC126808|MGC126810 LGI1-like protein 2|OTTHUMP00000218075|leucine-rich glioma-inactivated protein 2|leucine-rich repeat LGI family member 2|leucine-rich, glioma inactivated 2 protein-coding 1322345 LGI3 leucine-rich repeat LGI family, member 3 18628660,15489334,14702039,12975309,12477932,12217514,12095917,12023020 203190 NM_139278,AY358116,AC105206,CH471080,AF467956,AJ487518,AJ487961,AK090946,BC036494,BC042542,BC142997 NP_644807,EAW63708,EAW63709,AAM49554,CAD31786,CAD32308,BAC03553,AAQ88483,AAH42542,AAI42998,Q8N145 Hs.33470 LGIL4 LGI1-like protein 4|leucine-rich glioma-inactivated protein 3|leucine-rich repeat LGI family member 3 protein-coding 1344124 LGI4 leucine-rich repeat LGI family, member 4 14505228,12975309,12477932,12217514,12095917,12023020,8889548,19815358,20220021 163175 NM_139284,AC020907,AF467954,AJ487519,AJ487959,AL832968,AY358121,BC029943,BC087848,BC136694,BC136697,BC140008,BU740724 NP_644813,AAM49552,CAD31787,CAD32306,CAH56336,AAQ88488,AAH87848,AAI36695,AAI36698,AAI40009,Q658V8,Q8N135 Hs.65256 LGIL3 LGI1-like protein 3|leucine-rich glioma-inactivated gene 4|leucine-rich glioma-inactivated protein 4|leucine-rich repeat LGI family member 4 protein-coding 1344656 LGMD1A limb-girdle muscular dystrophy 1A (autosomal dominant) 9828127 3967 1353955 LGMD1D limb girdle muscular dystrophy 1D (autosomal dominant) 9973292 9186 731860 LGMN legumain This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq] 1580863 9065484,18029348,18374643,16341674,15788679,15489334,15100291,12860980,12477932,11085925,9891971,9872320,9821970,9742219,9373149,8893817,8125298,20074384,18377911,19615732,15583024,15951480,16344560,136644 5641 Y09862,CR596286,CR598510,CR599951,CR600019,CR600889,CR601057,CR601667,CR602525,CR603050,CR604003,CR604896,CR607115,CR608743,CR609822,CR610007,CR610747,CR611809,CR613295,CR615884,CR616663,CR617271,CR619616,CR620498,CR620992,CR621176,CR621764,CR622402,CR624305,CR624440,CR624467,CR625416,CR625463,CR626520,D55696,FB717466,FB717468,AK297074,AK297780,NM_001008530,AL132987,AL136332,CH471061,AK225822,AK291534,AK291560,BC003061,BC013678,BM838821,BX161380,BX161422,BX161434,CR457406,CR590440,CR591060,CR591531,CR592073,CR592440,CR593102,CR594654,CR594932,CR595840,NM_005606,CD366588,DA347449 BAA09530,CAA70989,Q53XC6,Q6I9U9,Q86TV2,Q86TV3,Q96CY7,Q99538,ABM82810,ABM85996,ABM85997,ABW03452,CAS91767,CAS91768,BAH12490,BAH12664,NP_005597,NP_001008530,EAW81500,EAW81501,BAF84223,BAF84249,AAH03061,AAH13678,CAD61872,CAD61895,CAD61906,CAG33687 Hs.726036 AEP|LGMN1|PRSC1 asparaginyl endopeptidase|cysteine protease 1|legumain|protease, cysteine 1|protease, cysteine, 1 (legumain) protein-coding 1346654 LGMN2P legumain 2 pseudogene 122199 NG_001534,AL359438 pseudo 1605061 LGR4 leucine-rich repeat-containing G protein-coupled receptor 4 G protein-coupled receptors (GPCRs) play key roles in a variety of physiologic functions. Members of the leucine-rich GPCR (LGR) family, such as GPR48, have multiple N-terminal leucine-rich repeats (LRRs) and a 7-transmembrane domain (Weng et al., 2008 [PubMed 18424556]).[supplied by OMIM] 18424556,17178856,12477932,11401528,10894923,9849958,19301269,19550120 55366 NM_018490,AC090597,AC100771,AF346711,CH471064,AB209743,AF257182,AI699025,BC033039,CB047435 NP_060960,AAK31153,EAW68285,EAW68286,BAD92980,AAF68989,AAH33039,Q59ER8,Q8N537,Q9BXB1,ABM83401,ABM86613 Hs.502176 GPR48 G protein-coupled receptor 48|G-protein coupled receptor 48|G-protein-coupled receptor 48|OTTHUMP00000164775|leucine-rich repeat-containing G protein-coupled receptor 4|leucine-rich repeat-containing G-protein coupled receptor 4 protein-coding 1605118 LGR5 leucine-rich repeat-containing G protein-coupled receptor 5 20581827,19813087,9642114,19602701,19197002,19139842,19030762,19020324,19020323,18688030,18591388,18372903,17934449,16575208,12601349,12477932,10935549,9849958,17554300,19670153,19720844,19794065,19833888,19862325,19933996,20042737,20195621,19549212,20571754,20712903,20879858,20889853,20927120,20384634 8549 AC090116,NM_003667,AC078860,CH471054,AF061444,AF062006,AK075399,AK294985,AK315133,BC096324,BC096325,BC096326,BC099650,FN820440 NP_003658,EAW97258,EAW97259,AAC77911,AAC28019,BAG58053,AAH96324,AAH96325,AAH96326,AAH99650,O75473 Hs.658889 FEX|GPR49|GPR67|GRP49|HG38|MGC117008 G protein-coupled receptor 49|G protein-coupled receptor 67|G-protein coupled receptor 49|G-protein coupled receptor 67|G-protein coupled receptor HG38|leucine-rich repeat-containing G protein-coupled receptor 5|leucine-rich repeat-containing G-protein coupled receptor 5|orphan G protein-coupled receptor HG38 protein-coding 1353750 LGR6 leucine-rich repeat-containing G protein-coupled receptor 6 This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1580863 16710414,15489334,14702039,12975309,12477932,12044878,10935549,8889548 59352 CQ840811,AB049405,BC038795,BC047905,NM_021636,AF088074,AY358119,BM699180,NM_001017403,NM_001017404,AB083616,AL356953,CH471067,AF190501,AK027377,AK123055 EAW91409,EAW91410,CAH05693,BAB39854,AAQ88486,AAH47905,NP_067649,EAW91408,NP_001017403,NP_001017404,BAB89329,CAI15927,CAI15928,CAI15929,CAI15930,CAI15931,EAW91407,AAG17168,BAB55071,Q9HBX8 Hs.497402 FLJ14471|GPCR|VTS20631 OTTHUMP00000217676|gonadotropin receptor|leucine-rich repeat-containing G protein-coupled receptor 6|leucine-rich repeat-containing G-protein coupled receptor 6 protein-coding 1344000 LGSN lengsin, lens protein with glutamine synthetase domain This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 19459848,17161372,17010935,16273301,16005676,14574404,12477932,12107413,12107412,20379614 51557 NM_016571,NM_001143940,AL121949,AL450346,AL590456,CH471143,AF242388,BC130366,BC130368,DQ682605,DQ682606 NP_057655,NP_001137412,CAI20481,EAW88493,AAF61255,AAI30367,AAI30369,ABG75902,ABG75903,Q5TDP6 Hs.149585 GLULD1|LGS|MGC163238|MGC163240 glutamate-ammonia ligase (glutamine synthase) domain containing 1|glutamate-ammonia ligase domain-containing protein 1|lengsin|lens glutamine synthase-like|lens glutamine synthetase-like protein-coding 1322883 LGTN ligatin This gene encodes a protein receptor that localizes phosphoglycoproteins within endosomes and at the cell periphery. This trafficking receptor for phosphoglycoproteins may play a role in neuroplasticity by modulating cell-cell interactions, intracellular adhesion, and protein binding at membrane surfaces. In hippocampal neurons, long-lasting down-regulation of ligatin mRNA levels occurs via post-transcriptional RNA processing following glutamate receptor activation. This protein contains single PUA and SUI1 domains and these domains may function in RNA binding and translation initiation, respectively. [provided by RefSeq] 1580863 7299841,7085778,17353931,2482295,15302935,14702039,12477932,12097419,9373149,8125298,20566627 1939 NM_006893,AL591846,CH471100,AB209364,AF159586,AF220417,AF262403,AK001852,AK225259,AK294536,AL162001,BC001585,BC039134,BC058905,BI465059,CR606084,CR609593,CR613130,CR615373,CR623821,DC399556,NM_001201478 NP_008824,CAI13533,CAI13534,CAI13535,EAW93536,EAW93537,EAW93538,EAW93539,EAW93540,BAD92601,AAD41909,AAF34185,AAF74205,BAA91942,BAG57743,CAB82330,AAH01585,AAH39134,AAH58905,P41214,Q59FU5,ABM82516,ABM85710,NP_001188407 Hs.497581 HCA56|LGTN Hepatocellular carcinoma-associated antigen 56|eukaryotic translation initiation factor 2D|hepatocellular carcinoma-associated antigen 56|ligatin protein-coding 69097 LHB luteinizing hormone beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq] 1600613,1580863 18240029,19106225,19129711,19453261,19574343,19598235,19890021,20173016,20430510,10484773,6785294,14557487,19146763,18767927,18703851,18439297,17761593,16358135,17507624,16103457,16410673,15602022,15569941,14871891,14585810,12746844,12734546,12700240,12683946,12419040,12356936,12042273,11870227,11861891,11829319,10854700,10065776,9886510,9619532,9457942,8979264,8961276,8663226,7679977,7513655,6690982,4719207,4685398,3470775,2424697,1991473,1727547,1495492,1191677,4368999,20734064 1600613 3972 NM_000894,NG_000019,NG_011464,AC008687,AF397591,CH471177,S71273,X00264 NP_000885,AAL69719,EAW52432,AAD14960,CAA25067,P01229,Q8WXL0,AAI60107 Hs.154704 CGB4|LSH-B|hLHB LSH-beta|interstitial cell stimulating hormone, beta chain|luteinizing hormone beta|luteinizing hormone beta subunit|lutropin beta chain|lutropin subunit beta protein-coding 737217 LHCGR luteinizing hormone/choriogonadotropin receptor This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq] 2292537,2292541,2289157,2302177,2302176,2292545,2292539,1566529,1580863,1600291 18240029,18971217,19129711,19246536,19394610,19453261,19492585,19508998,19551906,19574343,19598235,19616090,19636197,20173016,20424473,2791656,9528938,18439297,18433292,18411916,18372343,18313839,18300940,18217981,18162522,17709176,17692113,17609213,17556863,17548147,17458905,17293445,17092637,17074323,17055147,17052834,17045394,17045393,16943418,16837644,16709601,16344560,16332935,16135786,15908694,15890674,15889138,15878956,15788387,15607529,15539429,15304512,15304492,15292356,15169923,15084485,15031322,15016840,14764820,14605099,14594799,14507927,2249480,2244890,1922095,1651314,11867621,11445554,7719343,9626653,10617611,19403562,19356624,19147490,19086053,19064572,19010824,18848524,18772599,18767927,18758818,18647647,18641392,18596044,18508780,12972613,12933660,12850276,12843195,12816543,12770743,12727981,12679452,12519858,12450321,12444891,12270268,12242044,12091390,12088926,12040016,11988313,11943741,11857565,10580072,10493819,10342833,10215412,9858858,9851790,9661624,9626144,9558473,9514160,9467560,9435458,9238862,9215288,8929952,8829636,8747461,8559204,8281137,7757065,7714085,7692306,7629248,7556872,3470775,2293030,2254302,20634197,12036966,21151128,18577758,20716560,20734064 2292537,2292541,2289157,2302177,2302176,2292545,2292539,1566529,1600291 3973 NM_000233,NG_008193,AC073082,AC087816,AF024642,AF082076,CH471053,X84753,X84763,AK123498,BX101581,DA376746,M63108,M73746,S57793 NP_000224,AAY15065,AAX88979,AAB88417,AAC98291,EAX00190,EAX00191,EAX00192,CAA59234,AAA59515,AAA70231,AAB19917,P22888,Q4ZFZ4,Q53S49,AAI56304,AAI57029 Hs.468490 FLJ41504|HHG|LCGR|LGR2|LH/CG-R|LH/CGR|LHR|LHRHR|LSH-R|ULG5 OTTHUMP00000200502|OTTHUMP00000200503|OTTHUMP00000200504|OTTHUMP00000200506|lutropin-choriogonadotropic hormone receptor|lutropin/choriogonadotropin receptor protein-coding 1347444 LHFP lipoma HMGIC fusion partner This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq] 10329012,16344560,15905332,15489334,15057823,12477932,9373149,8125298 10186 AL136358,AL138685,AL158194,CH471075,AF098807,AK129819,AK223369,AK313036,AL137388,BC017824,CR592432,DA375214,NM_005780 NP_005771,CAC39629,CAH71055,CAH73751,EAX08616,EAX08617,AAD31386,BAD97089,BAG35869,AAH17824,Q9Y693,ABM86100,ABM82910 Hs.507798 MGC22429 OTTHUMP00000018296|lipoma HMGIC fusion partner protein-coding 1601697 LHFPL1 lipoma HMGIC fusion partner-like 1 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq] 16344560,15905332,15620218,15489334,12975309,12477932,10329012,8889549 340596 BC100786,BC100787,DA305197,NM_178175,NG_012629,AC000114,AL034450,AK289946,AY217350,AY358208,BC100785 AAI00787,AAI00788,Q86WI0,AAI00786,NP_835469,BAF82635,AAO60107,AAQ88575 Hs.297420 MGC118798|MGC118800|MGC118801 LHFP-like protein 1|lipoma HMGIC fusion partner-like 1 protein protein-coding 1320443 LHFPL2 lipoma HMGIC fusion partner-like 2 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq] 12477932,16344560,15905332,15146197,14702039,10329012,9039502,8889548,19668339,20379614 10184 NM_005779,AC010252,AC010585,CH471084,AK091868,AK125227,AY309920,BC136335,BC136336,BU735939,CN314535,CR598531,CR625834,CR936660,D86961,DA094988,DB292748 NP_005770,EAW95818,EAW95819,BAC86089,AAP74733,AAI36336,AAI36337,BAA13197,Q6ZUX7 Hs.79299,Hs.670094 DKFZp781E0375|KIAA0206 LHFP-like protein 2|OTTHUMP00000222104|lipoma HMGIC fusion partner-like 2 protein protein-coding 1349891 LHFPL3 lipoma HMGIC fusion partner-like 3 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq] 19401682,15905332,14702039,12690205,12477932,10329012,9847074,20379614 375612 NM_199000,AC000117,AC002432,AC007384,AC007558,AC079796,AC091286,CH236947,AK124251,AK299759,AW296968,AY260763,BC129937,BC129938,BC129941 NP_945351,EAL24407,BAG61648,AAP14954,AAI29938,AAI29939,AAI29942,Q86UP9 Hs.659164 LHFPL4 LHFP-like protein 3|OTTHUMP00000211895|lipoma HMGIC fusion partner-like 3 protein|lipoma HMGIC fusion partner-like 4 protein-coding 1604456 LHFPL4 lipoma HMGIC fusion partner-like 4 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. 15905332,12477932,20379614 375323 NM_198560,AC018506,AC026194,CH471055,AY278320,BC029607,BC113964,CR602878 NP_940962,EAW63964,AAP37013,Q7Z7J7 Hs.56782 MGC133162 LHFP-like protein 4|lipoma HMGIC fusion partner-like 4 protein protein-coding 1347478 LHFPL5 lipoma HMGIC fusion partner-like 5 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq] 19102128,16459341,15905332,12477932 222662 NM_182548,NG_012184,AL157823,CH471081,AK126841,BC028630 NP_872354,CAI21643,EAX03852,BAG54378,AAH28630,Q8TAF8,ABM82134,ABM85317 Hs.367947 DFNB67|MGC33835|TMHS|dJ510O8.8 LHFP-like protein 5|OTTHUMP00000016278|lipoma HMGIC fusion partner-like 5 protein|tetraspan membrane protein of hair cell stereocilia protein-coding 1343394 LHON Leber optic neuropathy 3974 1606248 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase 12477932,14702039,18029348,18268499,12801912,16385451,16430861,20379614 64077 NM_022126,AL391708,AL445237,AL513190,CH471066,AK055532,BC007324,BC073172,BC110344,BC113629,BC113631,CR605602,CR606965,CR611457,CR612778,CR621557,CR622583,EF151005,NM_001167880 NP_071409,CAH74011,CAI17295,CAI17296,CAI17297,CAH70377,CAH70378,EAW49264,EAW49265,EAW49266,EAW49267,EAW49268,EAW49269,BAG51532,AAI10345,AAI13630,AAI13632,Q5T1Z0,Q9H008,NP_001161352,ADR82914 Hs.527748 FLJ44846|FLJ46044|HDHD2B|MGC117251|MGC142189|MGC142191 OTTHUMP00000020693|hLHPP|phospholysine phosphohistidine inorganic pyrophosphate phosphatase protein-coding 732963 LHX1 LIM homeobox 1 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in control of differentiation and development of neural and lymphoid cells. A similar protein in mice is an essential regulator of the vertebrate head organizer. [provided by RefSeq] 1580863 19849868,9212161,7700351,16625196,15489334,12477932,12438757,11882901,9452425,8954926,10623575,12642491,16022279,19615554,19889212,20797712,21132009,9890059 3975 NM_005568,AC023315,AC025882,CH471199,AK298253,AK308646,BC020470,BC036856,BC101674,BC111936,BE612590,BF512551,U14755 NP_005559,EAW57574,BAG60518,AAH20470,AAI01675,AAI11937,AAA21644,P48742,Q58F18,ABZ92015 Hs.443727 LIM-1|LIM1|MGC126723|MGC138141 LIM homeobox protein 1|LIM/homeobox protein Lhx1|hLim-1|homeobox protein Lim-1 protein-coding 733849 LHX2 LIM homeobox 2 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq] 1580863 15489334,14702039,12477932,10593900,10431247,10051612,9697309,8649822,11069920,20211142 9355 NM_004789,AC006450,AL158052,CH471090,AK027597,AK094511,BC034458,BC093662,BC112185,U11701 NP_004780,EAW87576,EAW87577,BAG51357,BAC04371,AAH93662,AAI12186,AAB08752,P50458,ABZ92216 Hs.696425 LH2|MGC138390|hLhx2 LIM HOX gene 2|LIM homeobox protein 2|LIM/homeobox protein Lhx2|OTTHUMP00000022093|homeobox protein LH-2|lim homeobox protein 2 protein-coding 1352685 LHX3 LIM homeobox 3 This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine. Two transcripts variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 15865204,10598593,19126629,18583962,18407919,17327381,16613990,16394081,16179410,15567726,15517599,15271874,14714741,14646405,12642495,12477932,11882901,11470784,10903894,10835633,10818088,10788441,10717474,10593900,10431247,9452425,7665181,7626792,20189936,20534763,8889548 8022 NM_178138,NM_014564,NG_008097,AF096168,AF214637,AF367089,AL138781,CH471090,AF096169,AF156888,AF156889,BM799949,BU165468,AF211950,BM665174 NP_835258,NP_055379,AAF17291,AAF26412,AAL26314,CAI16878,CAI16879,EAW88205,EAW88206,AAF17292,AAF36808,AAF36809,Q9UBR4,AAI52819,AAI56736,AAG10399,Q9HBU2 Hs.148427 CPHD3|DKFZp762A2013|LIM3|M2-LHX3 LIM homeobox protein 3|LIM/homeobox protein Lhx3|LIM/homeodomain protein LHX3 protein-coding 1317585 LHX4 LIM homeobox 4 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in control of differentiation and development of the pituitary gland. Mutations in this gene are associated with syndromic short stature and pituitary and hindbrain defects. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq] 18445675,18073311,18053794,17667940,15998782,15567726,14714741,12477932,12118377,11844481,11567216,10788441,7913017,17527005,19856252,20211142,20800603,20534763 89884 BX954266,NM_033343,NG_008081,AF251562,AF405430,AL139141,AY817172,AY817173,AY817174,CH471067,AB037683,AB055703,AB055704,AF179849,AF282899,AY053457,BC011759 NP_203129,AAM19349,AAM91896,CAI19364,AAV67806,AAV67807,AAV67808,EAW91078,BAC01272,BAB62817,BAB62818,AAK70923,AAK69169,AAL07260,AAH11759,Q5RLJ1,Q5RLJ2,Q5RLJ3,Q969G2,Q96JP7,ABM83830,ABM87154 Hs.658487 CPHD4|FLJ22769|Gsh-4|Gsh4 LIM homeobox protein 4|LIM/homeobox protein Lhx4 protein-coding 732692 LHX5 LIM homeobox 5 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq] 1580863 15489334,12782966,12477932,11566211,11137295,10325223 64211 NM_022363,AC009773,CH471054,AF291181,BC109230 NP_071758,EAW98060,AAG36963,AAI09231,Q9H2C1 Hs.302029 MGC129689 LIM homeobox protein 5|LIM/homeobox protein Lhx5|lim homeobox protein 5 protein-coding 1314642 LHX6 LIM homeobox 6 This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and may be involved in the control of differentiation and development of neural and lymphoid cells. Two alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq] 20428825,10393337,16732332,16381901,16344560,15489336,15489334,15164053,14702039,12477932,11230166,11076863,11256614,20201926,20379614 26468 BC103936,BC103937,BC103938,DA799524,NM_014368,AL162424,CH471090,AB031041,AB031042,AK126982,AK289827,AK297175,AK299709,AK313808,AL136570,NM_199160 AAI03937,AAI03938,AAI03939,Q3SY65,Q9UPM6,CAL37575,CAL38240,ABZ92229,NP_954629,NP_055183,CAI14703,CAI14704,CAO03565,CAO03566,EAW87515,EAW87516,EAW87517,BAA83422,BAA83423,BAF82516,BAH12516,BAH13108,BAG36544,CAB66505 Hs.103137 LHX6.1|MGC119542|MGC119544|MGC119545 LIM homeobox protein 6|LIM homeodomain protein 6.1|LIM/homeobox protein Lhx6|LIM/homeobox protein Lhx6.1|OTTHUMP00000022047|OTTHUMP00000022048 protein-coding 1606630 LHX8 LIM homeobox 8 Members of the LIM homeobox gene family, such as LHX8, encode transcription regulators that share common structural features. They all contain 2 tandemly repeated cysteine-rich double-zinc finger motifs, called LIM domains, in addition to a homeodomain. The homeodomain is a DNA-binding domain, and the LIM domains are essential for regulating the activity of these molecules by interacting with other proteins. Members of the LIM homeobox gene family are required for the patterning or the specification and differentiation of different cell types during embryonic development (Zhao et al., 1999 [PubMed 10611327]).[supplied by OMIM] 20572854,20634891,20672350,18978678,17624344,16690745,16327884,14702039,12477932,10611327,9598319,17207965 431707 AB050476,AC099786,AY449521,NM_001001933,AY449522,AY449523,CH471059,AK094667,BC036423,BC040321 NP_001001933,BAB40306,AAR18074,AAR18075,EAX06405,AAH40321,Q68G74,Q6SV70,Q6SV71,Q9BYB7,ADQ31972 Hs.403934 Lhx7 LIM homeobox protein 8|LIM-homeodomain protein Lhx8|LIM/homeobox protein Lhx8|OTTHUMP00000011262 protein-coding 1354474 LHX9 LIM homeobox 9 This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 12477932,19568415,19545367,16710414,15761153,14702039,11397841,9880598,7566098 56956 NM_001014434,NM_020204,AJ277916,AL590115,CH471067,AA316988,AJ277914,AJ277915,AJ296272,AK097614,AY273889,BC131622,CR625363 NP_001014434,NP_064589,CAB98128,CAH71760,CAH71761,CAH71762,CAH71763,CAH71764,EAW91287,EAW91288,EAW91289,EAW91290,EAW91291,EAW91292,CAB97493,CAC33174,AAP32471,AAI31623,Q9NQ69 Hs.442578,Hs.706475 LIM homeobox protein 9|LIM/homeobox protein Lhx9|OTTHUMP00000033677 protein-coding 1316364 LIAS lipoic acid synthetase The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 19074983,15489334,12477932,11389890,11124703,20877624,18029348,17207965 11019 NM_006859,NM_194451,AC021148,CH471069,AJ224162,AK026289,AK291985,AK292238,AK303429,AV729111,BC023635,BC062751,CR602249,CR619197,HC916357,HC916375 NP_006850,NP_919433,EAW92932,EAW92933,EAW92934,CAA11859,BAF84674,BAF84927,BAG64479,AAH23635,AAH62751,O43766,Q6P5Q6,CBN72404,CBN72413,ADQ32257 Hs.550502 HUSSY-01|LAS|LIP1|LS|MGC23245 OTTHUMP00000125209|OTTHUMP00000218431|lip-syn|lipoate synthase|lipoic acid synthase|lipoyl synthase, mitochondrial protein-coding 736774 LIF leukemia inhibitory factor (cholinergic differentiation factor) The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. [provided by RefSeq] 1580863,2326063,2326053,2326058 16051226,19255255,19342253,19361790,19495417,19545488,19548631,19550366,19647472,19704963,19751193,19879916,19915574,20074285,20237496,20570039,7957045,8999038,12643274,3143918,7867561,7508917,19470478,19453261,19374770,19251277,19213836,19086053,19011087,18953658,18684446,18639869,18637760,18540977,18492704,18468598,18317962,18298054,18258286,18048043,18047677,18042242,17979974,17966612,17848619,17702963,17681328,17671691,17652170,17332938,17054938,17000646,16949591,16759928,16648972,16545901,16489116,16341766,16295654,16263181,15905624,15837065,15731310,15670782,15543003,15489334,15342941,15341921,15180980,15146197,15044601,14715713,14687743,14647442,14557674,14527405,12807438,12764151,12707269,12601009,12579339,12574225,12477932,12218157,12153570,11855863,11811789,11587067,11448119,10591208,10205054,9920829,9847074,9593715,9349722,8489250,8058719,3143916,3128791,2730639,2491897,2475312,1714745,1692837,12089333,20396801,20734064,19913121,20587610,20628086 2326063,2326053,2326058 3976 NM_002309,NG_008721,AC004264,CH471095,J03261,M27053,M63420,AK315310,BC069540,BC093733,BC093735,BC143305,CK819709,CN409458,X13967 NP_002300,AAC05174,EAW59863,AAA59517,AAA53188,AAA51699,BAG37714,AAH69540,AAH93733,AAH93735,CAA32147,P15018 Hs.2250 CDF|DIA|HILDA D factor|MLPLI|cholinergic differentiation factor|differentiation inhibitory activity|differentiation stimulating factor|differentiation-stimulating factor|leukemia inhibitory factor|melanoma-derived LPL inhibitor 2314778 GLUCO97_H protein-coding 1354198 LIFR leukemia inhibitory factor receptor alpha This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq] 1581860,1600614,1581858,1580863 19453261,19733004,19879916,20237496,12643274,8999038,7957045,12707266,1915266,18775332,17436251,17332938,17028186,16949591,16759928,16344560,16051226,15342556,15184896,15180980,15044601,14740318,14504285,12707269,12601009,12574225,12047380,11943154,11834739,11834704,11812136,11730732,11285233,11042511,10858440,10854707,10800945,10101017,9920829,9525740,9346946,8864865,8583009,8547494,8276403,7777512,7512571,1542794,1536831,10383413,20654748 1581860,1600614,1581858 3977 NM_002310,NM_001127671,NG_011817,AC010425,AC010457,AC091823,CH471119,AK290059,AK308158,AK309882,BP219669,BQ008945,BX648635,DA835819,DA857408,U66563,X61615 NP_002301,NP_001121143,EAW55972,AAB61897,CAA43805,P42702,AAI41429,AAI53097,BAF82748 Hs.133421 CD118|FLJ98106|FLJ99923|LIF-R|SJS2|STWS|SWS CD118 antigen|LIF receptor|leukemia inhibitory factor receptor protein-coding 731763 LIG1 ligase I, DNA, ATP-dependent LIG1 encodes DNA ligase I, with functions in DNA replication and the base excision repair process. Mutations in LIG1 that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. [provided by RefSeq] 2306716,1600089,1580863,1358139 19913121,20574454,20575039,20628086,16169070,19170196,19523882,19536092,19573080,19597347,19625176,19628465,19661089,19692168,19773279,20006844,20150366,20226869,20453000,20496165,9081985,8696349,9809069,9111189,10559261,19237606,19223468,19223467,19124499,19116388,19064572,18990028,18709642,18676680,18440984,18059021,17494052,17203305,17108146,17081983,16964243,16907646,16731526,15958648,15907772,15871698,15565146,15489334,15302935,14627836,12851383,12477932,12200445,12171929,12009232,11948189,10827190,10523317,9539976,9373149,8557490,8530104,8432525,8125298,7489727,2204063,2197279,1881902,1733856,1581963,1351188,934827,18655026,20813000,21077165 2306716,1600089 3978 BC110622,CR599472,CR612425,CR619348,M36067,NG_007395,AB103328,AC011466,AF527418,CH471177,AB208791,AK225863,AK297296,AK300370,AK300607,AK303644,AK314210,BC108318,NM_000234 AAI08319,AAI10623,AAA59518,P18858,Q2TB12,Q59HG7,Q76GR4,NP_000225,BAC81763,AAM77697,EAW52316,EAW52317,BAD92028,BAG59764,BAG62106,BAG62303,BAG64647,BAG36885 Hs.1770 MGC117397|MGC130025 DNA ligase 1|dna ligase i|polydeoxyribonucleotide synthase ATP 1|polydeoxyribonucleotide synthase [ATP] 1 protein-coding 1353192 LIG2 ligase II, DNA, ATP-dependent 3979 1320452 LIG3 ligase III, DNA, ATP-dependent This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863,2302580,2317363 12897160,16344560,18029348,19170196,19536092,19573080,19625176,19661089,19692168,19773279,20009512,20226869,20379614,20403997,20453000,20496165,20522537,8889548,20843780,7565692,15744309,9809069,8978692,19339270,19305408,19147782,19064572,18676680,18524993,18440984,18313385,18238776,17643379,17492771,17474147,17353931,17203305,17108146,17081983,17054425,16609022,16492928,16442856,16341674,16195237,15653642,15205355,14627836,12477932,11994275,11281714,10207110,9539976,9363683,9001252,7760816,11163244,11352725,9705932,9136882,8264637,15260972,20518483,20574454,20644561,20731661,20813000,21077165 2302580,2317363 3980 AW166526,BG470103,BM726768,DB100562,HQ204826,HQ204827,HQ204828,HQ204829,HQ204830,HQ204831,HQ204832,HQ204833,HQ204834,HQ204835,HQ204836,HQ204837,HQ204838,HQ204839,HQ204840,HQ204841,HQ204842,NM_013975,NM_002311,AC004223,AC022903,AF491645,CH471147,AA872458,AK125853,AK300363,AK308407,BC009026,BC068005,BM467239,BM759573,CR616389,U40671,X84740,HQ204843,HQ204844,HQ204845,HQ204846,HQ204847,HQ204848,HQ204849,HQ204850,HQ204851,HQ204852,HQ204853,HQ204854,HQ204855,HQ204856,HQ204857,HQ204858,HQ204859,HQ204860,HQ204861,HQ204862,HQ204863,HQ204864,HQ204865 ADP89974,ADP89976,ADP89977,ADP89978,ADP89979,ADP89980,ADP89981,ADP89982,ADP89983,ADP89984,ADP89985,ADP89986,ADP89987,ADP89988,ADP89989,ADP89990,ADP89991,ADP89992,ADP89993,ADP89994,ADP89995,ADP89996,ADP89997,ADP89998,ADP89999,ADP90000,ADP90001,ADP90002,ADP90003,ADP90004,ADP90005,ADP90006,NP_039269,NP_002302,AAL91592,EAW80197,EAW80198,EAW80199,BAH13269,AAH09026,AAH68005,AAA85022,CAA59230,P49916,Q96DF0,ADP89975,ADP90007,ADP90008,ADP90009,ADP90010,ADP90011,ADP90012,ADP90013,ADP90014,ADP90015,ADP90016,ADP90017,ADP90018,ADP90019,ADP90020,ADP90021,ADP90022,ADP90023,ADP90024,ADP90025,ADP90026,ADP90027,ADP90028,ADP90029,ADP90030,ADP90031,ADP90032,ADP90033,ADP90034,ADP90035,ADP90036,ADP90037,ADP90038,ADP90039,ADP90040,ADP90041,ADP90042,ADP90043,ADP90044,ADP90045,ADP90046,ADP90047,ADP90048,ADP90049,ADP90050,ADP90051,ADP90052,ADP90053 Hs.100299 LIG2 DNA ligase 3|DNA ligase III|ligase II, DNA, ATP-dependent|polydeoxyribonucleotide synthase [ATP] 3 protein-coding 1312194 LIG4 ligase IV, DNA, ATP-dependent The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 1580863,1600305,2317363 17396150,19418549,19536092,19573080,19604268,19638463,19661089,19692168,19727724,19773279,19789190,19837014,19859091,20150366,20368557,20400235,20453000,20496165,20496270,20522537,9259651,18952251,18951430,18845326,18830263,18579371,18508926,18440984,18270339,18165945,17963495,17541392,17492771,17290226,17241822,17018785,16857995,16735143,16638864,16571728,16485136,16439205,16412978,16407418,16357942,15958648,15609317,15520013,15509577,15489334,15333585,15256476,15194694,15126335,15057823,14578164,12750264,12682366,12547193,12477932,12471202,12361565,12150897,12077346,12036913,12023982,11779494,11702069,11349135,10945980,10854421,10757784,10395545,9705934,9259561,7760816,17567543,17353931,10608806,8798671,9242410,12589063,12517771,9809069,12091904,16291214,18029348,19408343,19332554,19251090,19147782,19142223,19127255,19124506,19116388,19092295,19074885,19064572,18990028,20568250,20731661,20813000,21077165,20610542,20644561,20811692 1600305,2317363 3981 NM_206937,NM_002312,NG_007396,AF479264,AL157762,CH471085,AI809944,AK292419,AK314844,BC037491,BX648833,CD102896,CR618195,X83441,NM_001098268 NP_001091738,NP_996820,NP_002303,AAL77435,CAH70629,EAX09094,EAX09095,EAX09096,BAF85108,BAG37361,AAH37491,CAA58467,P49917,ABM83400,ABM86612 Hs.166091 DNA joinase|DNA ligase 4|DNA ligase IV|DNA repair enzyme|polydeoxyribonucleotide synthase [ATP] 4|polynucleotide ligase|sealase protein-coding 1348933 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 1580863 9548455,15304001,15489334,12477932,19658091,20237496,20331378 11024 NM_006863,AC009892,CH471135,AF025529,AF025530,AK290919,AK310122,AK311226,BC032238,BC047007,BC063009,BC093708,BC101514,EU915602,CS540238 NP_006854,EAW72261,EAW72262,EAW72263,EAW72264,EAW72265,AAB87663,AAB87664,BAF83608,AAH93708,AAI01515,ACK56068,O75019,CAM90896 Hs.710507 CD85I|LIR-6|LIR6|MGC126563 CD85 antigen-like family member I|OTTHUMP00000195917|leukocyte immunoglobulin-like receptor 6|leukocyte immunoglobulin-like receptor subfamily A member 1|leukocyte immunoglobulin-like receptor subfamily A member 1 soluble isoform protein-coding 1350932 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 Leukocyte Ig-like receptors (LIRs) are a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. All LIRs in subfamily B have an inhibitory function (see, e.g., LILRB1, MIM 604811). LIRs in subfamily A, with short cytoplasmic domains lacking an immunoreceptor tyrosine-based inhibitory motif (ITIM) and with transmembrane regions containing a charged arginine residue, may initiate stimulatory cascades. One member of subfamily A (LILRA3; MIM 604818) lacks a transmembrane region and is presumed to be a soluble receptor.[supplied by OMIM] 9548455,19230061,18273033,18056355,17998301,15489334,15342556,15242876,14662864,12529506,12477932,9373149,9079806,8977169,8125298,19658091,20237496,20331378,17207965 11027 NM_006866,NM_001130917,AC009892,AF106253,AF106261,AF106269,AF106277,CH471135,CS173041,CU024913,CU234142,AF025531,AK130170,AK222651,AK310088,BC017412,BC027916,BP296918,CB046242,EU915609,EU915610,U70665,U82275,U82276,U82277,U82278 NP_006857,NP_001124389,AAD50364,AAD17990,AAD50365,AAD17991,EAW72257,EAW72258,EAW72259,EAW72260,CAJ33701,CAQ09343,CAQ09344,CAQ09964,AAB87665,BAD96371,AAH17412,AAH27916,ACK56075,ACK56076,AAC50928,AAC51175,AAC51176,AAC51177,AAC51178,Q8N149,Q99702,ADQ32777 Hs.655593 CD85H|ILT1|LIR-7|LIR7 CD85 antigen-like family member H|ILT-1|OTTHUMP00000068394|OTTHUMP00000068395|OTTHUMP00000068397|immunoglobulin-like transcript 1|leukocyte immunoglobulin-like receptor 7|leukocyte immunoglobulin-like receptor subfamily A member 2|leukocyte immunoglobulin-like receptor subfamily A member 2 soluble protein-coding 1354395 LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 Leukocyte Ig-like receptors (LIRs) are a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. All LIRs in subfamily B have an inhibitory function (see, e.g., LILRB1, MIM 604811). LIRs in subfamily A, with short cytoplasmic domains lacking an immunoreceptor tyrosine-based inhibitory motif (ITIM) and with transmembrane regions containing a charged arginine residue, may initiate stimulatory cascades (see LILRA1, MIM 604810). One member of subfamily A (LILRA3) lacks a transmembrane region and is presumed to be a soluble receptor (Borges et al., 1997 [PubMed 9548455]).[supplied by OMIM] 20595277,9151699,19421224,19195718,18439545,16189514,15815690,15489334,15340161,12750859,12651072,12477932,12121272,9548455,9382880,9278324,9079806,19790059,20331378 11026 NM_006865,AC010518,AF353733,AF482762,AF482763,AF482764,AF482765,AF482766,AF482767,AF482768,AF482769,CH471135,AF014923,AF014924,AF025527,BC028208,U91926,U91927,BX280714,CU104682,CU467018,NM_001172654 NP_006856,AAK58867,AAM18035,AAM18036,AAM18037,AAM18038,AAM18039,AAM18040,AAM18041,AAM18042,EAW72225,AAC51885,AAC51886,AAB87661,AAH28208,AAB68666,AAB68667,Q8N6C8,Q8NHJ5,ABM82001,ABM85184,CAP58440,CAQ09386,NP_001166125 Hs.113277,Hs.624711 CD85E|HM31|HM43|ILT6|LIR-4|LIR4|e3 CD85 antigen-like family member E|ILT-6|OTTHUMP00000067957|immunoglobulin-like transcript 6|leucocyte immunoglobulin-like receptor|leukocyte immunoglobulin-like receptor 4|leukocyte immunoglobulin-like receptor A3|leukocyte immunoglobulin-like receptor subfamily A member 3|monocyte inhibitory receptor HM43/HM31 protein-coding 1606816 LILRA4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 This gene encodes an immunoglobulin-like cell surface protein preferentially expressed in plasmacytoid dendritic cells (PDCs). This gene is highly expressed in PDCs, and is found to be rapidly down-regulated by interleukin 3 (IL3). This gene is one of the 19 highly related genes that form a leukocyte receptor gene cluster (LRC) at chromosomal region 19q13.4. [provided by RefSeq] 19564354,18048391,18006695,16777052,16735691,15094202,12529506,12477932,12384430,11491530,10941842,20331378 23547 NM_012276,AC008746,AC008984,CH471135,CU467018,CU104682,AF041261,AF283989,BC038829,BC109198,BC109199,BI834924 NP_036408,EAW72230,EAW72231,CAQ09392,CAP58445,AAD02203,AAL36993,AAI09199,AAI09200,P59901,EAW72232 Hs.406708 CD85g|ILT7|MGC129597|MGC129598 CD85 antigen-like family member G|ILT-7|immunoglobulin-like transcript 7|leukocyte immunoglobulin-like receptor subfamily A member 4|leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 4 protein-coding 1601693 LILRA5 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 16675463,12393390,10941842,19658091,20331378 353514 AF499918,AF499919,EU915611,EU915612,NM_021250,NM_181985,NM_181986,NM_181879,AC008984,CH471135,CS300626,CU104682,CU467018,AF212842,AF324830,AF499916,AF499917 AAN27927,AAN27928,ACK56077,ACK56078,A6NI73,AAI48659,AAI53204,NP_067073,NP_871714,NP_871715,NP_870994,EAW72226,EAW72227,EAW72228,EAW72229,CAK32290,CAQ09388,CAQ09389,CAQ09390,CAQ09391,CAP58441,CAP58442,CAP58443,CAP58444,AAF73849,AAK52451,AAN27925,AAN27926 Hs.710986 CD85|CD85F|ILT11|LILRB7|LIR9 CD85 antigen-like family member F|ILT-11|LIR-9|immunoglobulin-like transcript 11 protein|leukocyte Ig-like receptor 9|leukocyte immunoglobulin-like receptor 9|leukocyte immunoglobulin-like receptor subfamily A member 5|leukocyte immunoglobulin-like receptor subfamily A member 5 soluble|leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 7 protein-coding 1603957 LILRA6 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 16344560,15489334,15057824,14702039,12477932,10941842,19617579,20331378 79168 NM_024318,AC010492,AF041262,AF344431,AF344432,AF344436,AF344441,AF344442,AF344443,AF344651,AF344652,AK124026,BC041708,DA463849,DA619934 NP_077294,AAD02204,AAQ14937,AAQ14938,AAQ14942,AAQ14947,AAQ14948,AAQ14949,AAQ14950,AAQ14951,Q6PI73,AAI41550,AAI56795 Hs.688335 CD85b|ILT5|ILT8|LILRB3|LILRB6 ILT-8|OTTHUMP00000069599|immunoglobulin-like transcript 5|immunoglobulin-like transcript 8|leukocyte Ig-like receptor|leukocyte immunoglobulin-like receptor subfamily A member 6|leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6 protein-coding 1349645 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19913121,20628086,20631139,18538388,20600445,9285411,15304001,19304799,19136885,18946352,18821690,18802077,18684926,18632577,18398485,18094328,17998301,17601702,17400057,17056715,16455647,16344560,16305801,16210603,16014635,15905516,15670976,15585844,15489334,15474475,15100307,14702039,14662864,12897781,12874224,12853576,12847262,12477932,12390682,12130517,11907092,11751964,11491530,11169396,11114384,10941837,10591185,9933109,9842885,9382880,9373149,9259559,9079806,8258145,8125298,19658091,19841038,20194892,20139023,20580616 10859 HM135394,HM135401,CS540228,NM_006669,NM_001081638,NM_001081639,NM_001081637,AC009892,AF189277,CH471135,AF009005,AF009006,AF009007,AF009220,AF009221,AF283984,AF283985,AK094834,AK223310,AK292028,AK292156,BC015731,DA263280,DA953794,EU915608,U82279 ADJ55944,ADJ55951,CAM90892,NP_006660,NP_001075107,NP_001075108,NP_001075106,AAG08984,EAW72266,EAW72267,EAW72268,EAW72269,AAC51879,AAC51880,AAC51881,AAB63521,AAB63522,AAL36988,AAL36989,BAD97030,BAF84717,BAF84845,AAH15731,ACK56074,AAC51179,Q8NHL6,ABM83156,ABM86357 Hs.667388 CD85|CD85J|FLJ37515|ILT2|LIR-1|LIR1|MIR-7|MIR7 CD85 antigen|CD85 antigen-like family member J|ILT-2|Ig-like transcript 2|OTTHUMP00000068385|OTTHUMP00000068387|OTTHUMP00000068408|OTTHUMP00000200114|immunoglobulin-like transcript 2|leukocyte Ig-like receptor-1|leukocyte immunoglobulin-like receptor 1|leukocyte immunoglobulin-like receptor subfamily B member 1|leukocyte immunoglobulin-like receptor subfamily B member 1 soluble isoform|monocyte/macrophage immunoglobulin-like receptor 7 protein-coding 1353018 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 9382880,9079806,15304001,19535644,19356145,19124746,19010139,18550825,18538388,18439545,17998301,17923119,17420263,17400057,17056715,16455647,15670976,15489334,15301858,14662864,12853576,12477932,12390682,11875462,11169396,10190906,9842885,9548455,9531263,9373149,9259559,9151699,8125298,17567994,11491530,20448110,20702625,19658091,19860908 10288 NM_005874,NM_001080978,AC010518,CH471135,CU457734,AF000574,AF004231,AF011565,AF011566,AF025528,AF283986,AF283987,AK226015,AK297041,AK297071,AK298649,AK310263,BC025766,BC036827,DC429053,DQ655938,EU915606 NP_005865,NP_001074447,EAW72224,CAP19135,CAP58450,AAB88119,AAB67711,AAC51882,AAC51883,AAB87662,AAL36990,AAL36991,BAH12481,BAH12489,BAH12836,AAH36827,ACK56072,Q8N423,ACE87826,ACT64556 Hs.655652 CD85D|ILT4|LILRA6|LIR-2|LIR2|MIR-10|MIR10 CD85 antigen-like family member D|ILT-4|Ig-like transcript 4|OTTHUMP00000067464|eukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6|immunoglobulin-like transcript 4|leukocyte immunoglobulin-like receptor 2|leukocyte immunoglobulin-like receptor subfamily B member 2|leukocyte immunoglobulin-like receptor subfamily B member 2 soluble isoform|monocyte/macrophage immunoglobulin-like receptor 10 protein-coding 1316283 LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 9278324,9382880,18802077,17998301,16344560,15242876,12529506,12477932,10941842,9548455,9373149,9151699,9079806,8125298,20631139,19913121,20628086,19617579,19658091 11025 NM_001081450,NM_006864,AC010492,AC012314,AF256195,CU457734,AF000575,AF009632,AF009633,AF009634,AF009635,AF009636,AF009637,AF009638,AF009639,AF009640,AF009641,AF009642,AF009643,AF009644,AF025533,AF031553,AF031554,AF031555,AF031556,AF344427,AF344434,AF344435,AF344437,AK223265,AK290917,BC028153,BC104993,BC112198,CA434108,DA620532,EU814627,EU814628,EU915603,EU915604,EU915605,U91928 NP_001074919,NP_006855,AAP30716,CAP19127,CAP19128,CAP19129,AAB88120,AAC51887,AAC51888,AAC51889,AAC51890,AAC51891,AAC51892,AAC51893,AAC51894,AAC51895,AAC51896,AAC51897,AAC51898,AAC51899,AAB87667,AAC51900,AAC51901,AAC51902,AAC51903,AAQ14933,AAQ14940,AAQ14941,AAQ14943,BAD96985,BAF83606,AAI04994,AAI12199,ACJ26774,ACJ26775,ACK56069,ACK56070,ACK56071,AAB68668,O75022 Hs.631592,Hs.688335 CD85A|HL9|ILT5|LIR-3|LIR3|MGC138403|PIRB CD85 antigen-like family member A|ILT-5|OTTHUMP00000069587|immunoglobulin-like transcript 5|leukocyte immunoglobulin-like receptor 3|leukocyte immunoglobulin-like receptor subfamily B member 3|monocyte inhibitory receptor HL9 protein-coding 1347745 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 9151699,9548455,19535644,19380766,19010139,18802077,18486764,18420485,17998301,17993722,17923119,17513794,17266150,17161342,16493035,16433759,16406677,15670976,15489334,12477932,11875462,11491530,10941837,10940079,10781084,9973385,9862332,9422771,9278324,9079806,19658091,19833736,19860908,20237496 11006 NM_006847,NM_001081438,AC011515,AF072099,AF189768,CH471135,AF025532,AF283988,AK292082,AK309227,AK314783,BC026309,BX094825,CR542048,CR609786,EU915607,U82979,U91925 NP_006838,NP_001074907,AAC99761,AAG02024,EAW72270,EAW72271,EAW72272,AAB87666,AAL36992,BAF84771,AAH26309,CAG46845,ACK56073,AAC51355,AAB68665,Q8NHJ6,ABM83015,ABM86208 Hs.67846 CD85K|HM18|ILT3|LILRB5|LIR-5|LIR5 CD85 antigen-like family member K|ILT-3|OTTHUMP00000068605|OTTHUMP00000068609|immunoglobulin-like transcript 3|leukocyte immunoglobulin-like receptor 5|leukocyte immunoglobulin-like receptor subfamily B member 4|leukocyte immunoglobulin-like receptor subfamily B member 4 soluble isoform|leukocyte immunoglobulin-like receptor, subfamily B, member 4|monocyte inhibitory receptor HM18 protein-coding 1351276 LILRB5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20237496,9548455,17998301,16335952,15489334,14702039,12477932,9373149,8125298 10990 NM_001081442,NM_006840,AC010492,CH471135,CU104682,CU457734,AF025534,AK057072,AK090399,AK092867,AK096122,AK223296,AK290845,AK301112,AK301338,BC025704,NM_001081443,CA433575 NP_001074912,NP_001074911,NP_006831,EAW72218,EAW72219,EAW72220,EAW72221,EAW72222,CAQ09377,CAQ09378,CAQ09379,CAQ09380,CAP19131,CAP19132,CAP19133,CAQ06862,AAB87668,BAB71361,BAC03380,BAD97016,BAF83534,BAG62710,BAG62886,AAH25704,O75023,Q8NF80,ABM85028 Hs.655338 CD85C|LIR-8|LIR8 CD85 antigen-like family member C|leukocyte immunoglobulin-like receptor 8|leukocyte immunoglobulin-like receptor subfamily B member 5 protein-coding 1603958 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 10941842,9862332 79167 NG_002681,AF072102,AC011515 CD85l|ILT9|LILRA6P pseudo 1601849 LILRP2 leukocyte immunoglobulin-like receptor pseudogene 2 12477932,10941842,9862332 79166 NR_003061,AC006293,AF072100,AF072101,BC131616 AAC99762 Hs.202680 CD85m|ILT10|LILRA5 pseudo 1342579 LIM2 lens intrinsic membrane protein 2, 19kDa The mammalian lens fiber cell membrane contains 5 major proteins ranging from 70 kD to 19 kD in size. The specific function of these proteins is unknown. Some of them have been shown to be involved in the formation of cataracts, e.g., crystalline-gamma-1 (CRYG1; MIM 123660). The second most abundant intrinsic membrane protein of the lens fiber cell is MP19, so named for major lens protein having a molecular weight of 19.5 kD. This protein appears to contain 4 transmembrane domains, is a substrate for cAMP-dependent protein kinase and protein kinase C, and binds with calmodulin. Taken together, these suggest that MP19 functions in some way as a junctional component, possibly involved with lens cell communication. It has been shown to be involved with cataractogenesis.[supplied by OMIM] 1600309,1580863 15968979,2584203,18596884,12477932,12107413,11917274,11532191,8889548,8666393,8197479,8137630,1606837,12107412 3982 NG_012924,NM_030657,NM_001161748,AC008750,AF305941,CH471135,L04193,AF340019,AF340020,BC069430,BC074916,BC074917,BC126139,BU734982,CD675859 NP_085915,NP_001155220,AAG32328,EAW72010,EAW72011,AAK26327,AAK26328,AAH69430,AAH74916,AAH74917,AAI26140,P55344,ADR83503 Hs.162754 MP17|MP19 MP18|MP20|lens fiber membrane intrinsic protein protein-coding 1602328 LIMA1 LIM domain and actin binding 1 EPLIN is a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles (Maul et al., 2003 [PubMed 12566430]).[supplied by OMIM] 18029348,12566430,10618726,19221476,18796137,18093941,17081983,16565220,16344560,16083285,15592455,15498874,15489334,15342556,15324660,15302935,14702039,12477932,11256614,11230166,10931946,10806352,9373149,8125298 51474 NM_016357,NM_001113546,NM_001113547,AC008147,AC139016,CH471111,AA772616,AB209512,AF157325,AF198454,AF198455,AF218025,AK000057,AK000335,AK000372,AK023649,AK096172,AK222971,AK297766,AK314447,AL136911,BC001247,BC010664,BC110815,BC136763,BC144402,BC144403,BP216703,BP281423,CR613639,CR622764,DA738195 NP_057441,NP_001107018,NP_001107019,EAW58134,EAW58135,EAW58136,BAD92749,AAF67491,AAF23755,AAF23756,AAG17267,BAA90914,BAA91092,BAA91120,BAB14625,BAG53224,BAD96691,BAG60114,BAG37056,CAB66845,AAH01247,AAH10664,AAI10816,AAI36764,Q53GG0,Q59FE8,Q9UHB6 Hs.525419 EPLIN|FLJ38853|MGC131726|SREBP3 1110021C24Rik|LIM domain and actin-binding protein 1|epithelial protein lost in neoplasm beta|sterol regulatory element binding protein 3 protein-coding 1604823 LIMCH1 LIM and calponin homology domains 1 16381901,16344560,15489336,15302935,12477932,11256614,11230166,11076863,10470851,9847074,20379614 22998 AK026815,AK027231,AK309846,AL831962,BC023546,BC029735,BC053639,BC068200,BC095394,BX537916,BX640692,CR624144,CR749205,CR933645,CR936601,CR936610,CR936658,CR936661,CR936664,DA786971,NM_001112717,NM_001112718,NM_001112719,NM_001112720,AC095043,AC105389,AC108050,AC121159,AC124009,CH471069,AB029025,NM_014988,AK294774,AK295784,AK295836,AK298915,AK299297,AK299835,AK302674,AL117572 CAD38604,AAH23546,AAH29735,AAH68200,AAH95394,CAD97899,CAE45816,CAH18063,CAI45946,CAI56749,CAI56754,Q6N054,Q6NVB9,Q9UPQ0,CAL37479,CAL37959,NP_055803,NP_001106188,NP_001106189,NP_001106190,NP_001106191,EAW92984,EAW92985,EAW92986,EAW92987,EAW92988,BAA83054,BAH11880,BAH12187,BAH12196,BAH12902,BAH12994,BAH13142,BAH13776 Hs.335163 DKFZp434I0312|DKFZp686A01247|DKFZp686B2470|DKFZp686G18243|DKFZp686G2094|DKFZp781C1754|DKFZp781I1455|LIMCH1A|LMO7B|MGC72127 LIM and calponin homology domains-containing protein 1|OTTHUMP00000218522|OTTHUMP00000218523|OTTHUMP00000218525|OTTHUMP00000218526|OTTHUMP00000218529|OTTHUMP00000218530|OTTHUMP00000218531|OTTHUMP00000218616|OTTHUMP00000218618|OTTHUMP00000218619|OTTHUMP00000218620 protein-coding 1320381 LIMD1 LIM domains containing 1 1580863 10647888,19060205,18712738,18439753,17889706,15870274,15542589,15489334,15231748,15144186,14702039,12477932,11352561,11158571,20133701,20226061 8994 NM_014240,AC098476,AC099539,AJ297357,AJ312686,CH471055,AJ132408,AK021508,BC027712,BC117236,BC117238,BU428864,M80651 ADR83109,NP_055055,CAB95944,CAC35917,EAW64742,CAB63652,AAI17237,AAI17239,Q9UGP4 Hs.193370,Hs.621057 LIM domain-containing protein 1|OTTHUMP00000210317 protein-coding 1603297 LIMD2 LIM domain containing 2 15489334,15203218,14702039,12477932,16712791 80774 AC046185,CH471109,AA251318,AK092301,AK307353,AY037154,BC004400,BC025738,BC051812,CB148563,CD632650,CR600276,CR606738,CR613418,CR624112,NM_030576,AK310718 NP_085053,EAW94291,EAW94292,EAW94293,EAW94294,EAW94295,EAW94296,BAC03855,AAK67634,AAH04400,AAH51812,Q9BT23 Hs.591166 MGC10986 LIM domain-containing protein 2 protein-coding 1603039 LIME1 Lck interacting transmembrane adaptor 1 LIME1 is a raft-associated transmembrane adaptor phosphoprotein that is preferentially expressed in hemopoietic cells, particularly T cells (Brdickova et al., 2003 [PubMed 14610046]; Hur et al., 2003 [PubMed 14610044]).[supplied by OMIM] 16249387,16160011,15498874,15489334,15342556,14702039,14610046,14610044,12477932,11780052 54923 NM_017806,AL121845,CH471077,AI763397,AK000413,AK054722,AY203957,BC017016,BP368475,CR616647 NP_060276,CAC03671,CAI21882,EAW75213,EAW75214,EAW75215,EAW75216,EAW75217,EAW75218,EAW75219,BAA91148,AAP34480,AAH17016,Q9H400 Hs.233220 FLJ20406|LIME|LP8067|RP4-583P15.5|dJ583P15.4 OTTHUMP00000031599|lck-interacting membrane protein|lck-interacting molecule|lck-interacting transmembrane adapter 1 protein-coding 732406 LIMK1 LIM domain kinase 1 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is likely to be a component of an intracellular signaling pathway and may be involved in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. [provided by RefSeq] 20634891,20694560,17192257,19662944,19734939,19778628,20047470,20061392,20100465,12361576,15220930,16837009,8537403,10436159,10428028,8689688,19056482,18978953,18566305,18424072,18096821,18028908,18000399,17512523,17294230,17287949,16763828,16611674,16456544,16455074,16381000,16204183,16192283,15897190,15660133,15189451,15023529,14702039,14530263,12963706,12853948,12821664,12777619,12684437,12323073,11925442,11418599,11413130,18079118,20347121,18029348,20622363,11340065,11003705,10652353,10559936,10431247,10196227,9685409,9655398,8980133,8824278,8812460,8673124,8183554 3984 NM_002314,NG_008129,AC005056,AC005057,CH471200,U62293,U63721,AB209557,AF134379,AK026544,AK125156,AK290162,AK300382,D26309 NP_002305,AAS07436,AAS07437,AAS07438,EAW69620,EAW69621,EAW69622,EAW69623,AAB17545,AAB17546,AAC13885,AAC13886,BAD92794,AAD25742,BAF82851,BAH13274,BAA05371,P53667,Q59FA3,Q75MU0,Q75MU4,AAI48341,AAI52983 Hs.647035 LIMK LIM domain kinase 1|LIM motif-containing protein kinase|LIMK-1|OTTHUMP00000211913|lim motif-containing protein kinase 1 protein-coding 733238 LIMK2 LIM domain kinase 2 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1300048 20190821,20047470,20379614,8537403,8954941,18029348,19369647,18852895,18000399,17294230,16820362,16505165,16455074,16381901,15923181,15489336,15461802,15231748,14702039,12477932,11418599,11340065,11230166,11171090,11076863,15647284,11018042,10613909,10591208,10452946,9655398,8980133,10436159,15660133,21150874 3985 NM_016733,NM_001031801,AB016655,AB016656,AC002073,CH471095,AB451269,AB451396,AK093554,AK291640,AK293774,AK299112,AK302553,AK314391,AL117466,BC013051,NM_005569,BU553494,BX385507,CR456513,CR625165,D45906,D85527 NP_005560,NP_057952,NP_001026971,BAA36742,AAB54055,AAB54056,EAW59954,EAW59955,EAW59956,EAW59957,EAW59958,EAW59959,BAG70083,BAG70210,BAG52739,BAF84329,BAG57190,BAG61168,BAG63822,BAG37016,CAB55941,AAH13051,CAG30399,BAA08312,BAA12827,P53671,Q7L3H5,Q7LGD2,CAL37968,CAK54543,CAK54842 Hs.474596 LIM domain kinase 2|LIMK-2|OTTHUMP00000199483|lim motif-containing protein kinase 2 protein-coding 1350726 LIMM lethal infantile mitochonrial myopathy 3986 1313937 LIMS1 LIM and senescent cell antigen-like domains 1 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. [provided by RefSeq] 1580863,2300344 18436335,19074270,7517666,19117955,18957717,18459134,18187956,18063582,17656471,16273248,16189514,15941716,15878342,15815621,15761153,15565145,15489334,14702039,14551191,12794636,12665801,12528177,12477932,12432066,11331308,11078733,10508479,10022929,9843575,12167643,17353931,20714146 2300344 3987 NM_004987,AC010095,AC012487,CH471182,AF527759,AF527760,AF527761,AF527762,AF527763,AK025661,AK098109,AK296992,AK302411,AK304260,NM_001193482,NM_001193483,NM_001193484,NM_001193485,NM_001193488,AK310547,AK314217,AL110164,BC005341,BC015843,BC022365,CR591172,CR596109,CR619443,U09284,HI179074 NP_004978,AAY14983,EAW53877,EAW53878,EAW53879,EAW53880,BAH12469,BAH13699,BAH14143,NP_001180411,NP_001180412,NP_001180413,NP_001180414,NP_001180417,BAG36891,AAH05341,AAA20086,P48059,ABZ92388,CBX53845 Hs.597715,Hs.613268 PINCH|PINCH1 LIM and senescent cell antigen-like-containing domain protein 1|OTTHUMP00000203426|OTTHUMP00000203429|PINCH-1|particularly interesting new Cys-His protein 1|renal carcinoma antigen NY-REN-48 protein-coding 1313204 LIMS2 LIM and senescent cell antigen-like domains 2 LIMS2 is a focal adhesion protein that associates with integrin-linked kinase (ILK; MIM 602366), a multidomain protein that mediates multiple protein-protein interactions at adhesion sites between cells and the extracellular matrix (ECM).[supplied by OMIM] 1580863,2300344 17435276,16959213,16344560,15489334,15342556,14702039,12477932,12167643,11331308,15231748,20237496 2300344 55679 AF527769,AF527770,AK000906,AK022470,AK055363,AK091652,AK093692,AK094954,AK095790,AK123014,AK297645,AL512716,BC001370,BC008977,BC065816,BP221000,CA439343,CR592921,CR598773,CR610908,CR613400,CR620349,CR620493,CR620664,CR621396,CR626426,DA890151,DC356496,DR006887,NM_001136037,NM_001161403,NM_001161404,NR_027823,AC010976,AC074114,CH471103,AF484961,AF520987,AF527764,AF527765,AF527766,AF527767,AF527768,NM_017980 AAQ09015,AAQ09016,AAQ09017,BAA91419,BAB14047,BAG51505,BAG60013,CAC21657,AAH01370,AAH08977,AAH65816,Q53RZ1,Q7Z4I2,Q7Z4I3,Q7Z4I4,Q7Z4I5,Q7Z4I7,Q9BV95,Q9H058,Q9NWG2,NP_060450,NP_001129509,NP_001154875,NP_001154876,AAX93074,EAW95327,EAW95328,EAW95329,EAW95330,EAW95331,EAW95332,EAW95333,EAW95334,EAW95335,EAW95336,AAM97589,AAM77350,AAQ09011,AAQ09012,AAQ09013,AAQ09014 Hs.469881 FLJ10044|PINCH2 ILK-binding protein|LIM and senescent cell antigen-like-containing domain protein 2|LIM-like protein 2|OTTHUMP00000203850|OTTHUMP00000203852|OTTHUMP00000203853|OTTHUMP00000203855|OTTHUMP00000205983|PINCH-2|particularly interesting new Cys-His protein 2 protein-coding 1350402 LIMS3 LIM and senescent cell antigen-like domains 3 1580863 15815621,15489334,15342556,12477932,14702039,16341674 96626 NM_033514,AC013271,AC108938,AC112229,AF288404,AK298340,AK300833,AK312178,AK316210,BC054477,BC093812,BC112233,BC171890,BP320581,BQ013290,BX108353,AI887629,AK096170,CF994716,BM830478,NR_027467 BAH14581,NP_277049,AAY14903,AAY24131,AAF99328,BAG60588,BAG62484,BAG35111,AAH93812,AAI12234,Q9HB10 Hs.535619 FLJ38851|FLJ59126|FLJ79109|MGC138438|PINCH-3 LIM and senescent cell antigen-like-containing domain protein 3|PINCH-3|particularly interesting new Cys-His protein 3|pinch 2 protein-coding 1316876 LIN28 lin-28 homolog (C. elegans) 1580863 19483683,19153603,18550544,16710414,16227573,15722555,15614775,15489334,15003116,14702039,14688391,12798299,12477932,17617744,18951094,19038789,19578360,19703396,19878981,19966271,20101213 79727 NM_024674,AL513365,CH471059,AF521099,AK022519,BC028566 NP_078950,CAI21500,EAX07814,EAX07815,AAM77751,BAB14075,AAH28566,Q9H9Z2,ABM84324,ABM87718 Hs.86154 CSDD1|FLJ12457|LIN-28|LIN28|LIN28A|ZCCHC1 RNA-binding protein LIN-28|lin-28A|protein lin-28 homolog A|zinc finger CCHC domain-containing protein 1|zinc finger, CCHC domain containing 1 protein-coding 2805176 LIN28AP1 lin-28 homolog A (C. elegans) pseudogene 1 129402 AC021851,NG_021592 pseudo 3184182 LIN28AP2 lin-28 homolog A (C. elegans) pseudogene 2 100287388 AL360267,NG_022998 pseudo 3378723 LIN28AP3 lin-28 homolog A (C. elegans) pseudogene 3 441940 AL109837,NG_021975 pseudo 1604919 LIN28B lin-28 homolog B (C. elegans) 19483683,19266077,19211792,18391951,18391950,16971064,14702039,12477932,20827722,19448620,19448621,19448622,19448623,19495417,19615732,19703396,19745602,20303062,20350940,20398887,20525879,21102462,20846217,20962026,20546612 389421 NM_001004317,AL135911,CH471051,AK131411,BC127712,BC127713,BC137526,BC137527,BC141959,BC141960,BC150537,BC150538,CR594880,DQ127228,Z95329 NP_001004317,CAI20969,EAW48433,EAW48434,BAD18558,AAI27713,AAI27714,AAI37527,AAI37528,AAI41961,AAI50538,AAI50539,AAZ38897,Q6ZN17,CAI21661 Hs.23616 CSDD2|FLJ16517 Lin-28.2|lin-28B|protein lin-28 homolog B protein-coding 1603391 LIN37 lin-37 homolog (C. elegans) This gene encodes a protein expressed in the eye. [provided by RefSeq] 16189514,15489334,15057824,12477932,15479636,17207965 55957 NM_019104,AC002398,AD000671,AF162447,AK293116,AK301992,BC009071,BI767008,CR612042 NP_061977,AAB81199,AAQ13584,BAF85805,BAG63398,AAH09071,Q96GY3,ADQ31598 Hs.529100 F25965|MGC9505|ZK418.4|lin-37 antolefinin|protein F25965|protein lin-37 homolog protein-coding 1315617 LIN52 lin-52 homolog (C. elegans) 20379614,18029348,17081983,17075059,15489334,14702039,12477932,20585627 91750 NM_001024674,AC005484,AC006349,CH471061,AK023979,AK055422,AK307062,BC009539,BC094003,BC094005,CR593198,CR597277 NP_001019845,EAW81161,BAG51245,AAH94003,AAH94005,Q52LA3 Hs.612866 C14orf46|c14_5549 chromosome 14 open reading frame 46|protein lin-52 homolog protein-coding 1606970 LIN54 lin-54 homolog (C. elegans) 12477932,15479636,19725879,20379614 132660 NM_001115007,NM_001115008,AC021105,CH471057,AB111889,AK292769,AK294256,AK299787,BC109277,NM_194282,BC109278,BX537919,BX640657,BX640966,CX871759 NP_919258,NP_001108479,NP_001108480,EAX05917,EAX05918,EAX05919,EAX05920,BAC98377,BAF85458,BAG57551,BAG61668,AAI09278,AAI09279,CAD97902,CAE45799,CAE45981,Q6MZP7,Q7Z3G2,ACE87191,ACE87192,ACE86510,ACE86511 Hs.96952 CXCDC1|DKFZp686L1814|JC8.6|MGC129905|MIP120 CXC domain containing 1|CXC domain-containing protein 1|OTTHUMP00000219379|OTTHUMP00000219380|OTTHUMP00000219384|protein lin-54 homolog protein-coding 731642 LIN7A lin-7 homolog A (C. elegans) 1580863 11311936,9753324,9482110,18286632,17237226,16192278,15494546,15024025,14960569,14596909,12477932,12110687,10753959,10341223,10228153,9822620,16855024,14722086,16688213,19615732,20379614 8825 NM_004664,AC025568,AC068798,AC078886,CH471054,AF028826,AF087693,AF173081,AK309256,AK315321,BC046926,BC062332,BC099921,BC118609,BC122561,CR407680 NP_004655,EAW97370,EAW97371,AAB84251,AAC78481,AAD48500,BAG37724,AAH99921,AAI18610,CAG28608,O14910,AAI22562 Hs.144333 LIN-7A|LIN7|MALS-1|MGC148143|TIP-33|VELI1 hLin-7|lin-7-ba|mammalian LIN-7 1|mammalian lin-seven protein 1|protein lin-7 homolog A|tax interaction protein 33|veli-1|vertebrate LIN7 homolog 1|vertebrate lin-7 homolog 1 protein-coding 734321 LIN7B lin-7 homolog B (C. elegans) 1580863 14960569,16192269,18286632,16979770,16473877,16192277,15317815,15024025,14596909,12975309,12477932,12151522,11742811,10341223,9753324,20720508 64130 NM_022165,AC008687,CH471177,AF311862,AY358744,BC027618 NP_071448,EAW52454,EAW52455,AAG34117,AAQ89104,AAH27618,Q9HAP6 Hs.221737 LIN-7B|MALS-2|MALS2|VELI2 hLin7B|hVeli2|lin-7-a|mammalian lin-seven protein 2|protein lin-7 homolog B|veli-2|vertebrate lin-7 homolog 2 protein-coding 735828 LIN7C lin-7 homolog C (C. elegans) 1580863 18543122,18286632,17942893,17237226,16192275,16147993,15024025,14960569,14702039,14596909,12477932,12006486,10341223,9373149,8125298,16344560,19615732,20215397 55327 NM_018362,AC100771,CH471064,AF090900,AK002077,AK025540,AK223156,AL833601,BC009774,BC039459,BC053907,CR600278,DA231006 NP_060832,EAW68282,EAW68283,AAF24024,BAA92072,BAD96876,AAH53907,Q53FX5,Q9NUP9,Q9UI80 Hs.91393,Hs.693840 FLJ11215|LIN-7-C|LIN-7C|MALS-3|MALS3|VELI3 LIN-7 protein 3|lin-7-c|mammalian lin-seven protein 3|protein lin-7 homolog C|veli-3|vertebrate lin-7 homolog 3 protein-coding 1348970 LIN9 lin-9 homolog (C. elegans) 18029348,20360844,20379614,17563750,17159899,17098733,17081983,16730350,15538385,15489334,14702039,12477932,15479636 286826 AL359742,BX284931,CH471098,AF190323,AF190324,AK125690,AK126177,AK308823,AY166858,AY166859,AY786184,BC043444,BC045625,BC065302,NM_173083,BX537869 NP_775106,CAI12100,CAI14230,CAI14231,CAI14232,EAW69780,EAW69781,EAW69782,AAQ13710,AAQ13711,BAC86475,AAN87840,AAN87841,AAV41873,AAH43444,AAH45625,AAH65302,CAD97871,Q5TKA1,Q6P142,Q8IWQ1,Q8IWQ2 Hs.120817 BARA|BARPsv|Lin-9|TGS|TGS1 OTTHUMP00000035666|OTTHUMP00000216685|OTTHUMP00000216686|TUDOR gene similar protein|beta subunit-associated regulator of apoptosis|hLin-9|huLin-9|pRB-associated protein|protein lin-9 homolog|rb related pathway actor|type I interferon receptor beta chain-associated protein protein-coding 1318574 LINGO1 leucine rich repeat and Ig domain containing 1 19363035,19254717,19182806,17726113,20951767,17239012,17005555,16189514,14966521,14702039,14686891,12975309,12477932,16169070,15694322,19553813,19720553,19805735,19908305,20117178,20310002,20369371,20372186,20468067,20600614 84894 NM_032808,AC046168,CH471136,AK027500,AK291363,AL109677,AL834260,AY324320,AY324322,AY324323,AY358284,BC011057,BC068558,CR603375,CR603492,H11343 NP_116197,EAW99195,EAW99196,EAW99197,EAW99198,BAB55157,BAF84052,CAD38935,AAQ97216,AAQ97217,AAQ97218,AAQ88651,AAH11057,AAH68558 Hs.656765 FLJ14594|LERN1|LRRN6A|MGC17422|UNQ201 leucine rich repeat neuronal 6A|leucine rich repeat neuronal 6a|leucine-rich repeat neuronal 6A|leucine-rich repeat neuronal protein 1 protein-coding 1344562 LINGO2 leucine rich repeat and Ig domain containing 2 20694011,19240061,14702039,14686891,12975309,20935630,12477932,20200978,20369371,20379614 158038 AL353683,AL353746,AL445526,AL450428,AL451124,AL592206,AL596323,CH471071,CS161398,AK056372,AK172834,AK290972,AY358114,BC137514,NM_152570,BC144676 CAC22713,EAW58557,CAJ30882,BAB71167,BAD18799,BAF83661,AAQ88481,AAI37515,NP_689783,AAI44677,Q7L985 Hs.726303 FLJ31810|LERN3|LRRN6C OTTHUMP00000021174|leucine rich repeat neuronal 6C|leucine rich repeat neuronal 6c|leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2|leucine-rich repeat neuronal protein 3|leucine-rich repeat neuronal protein 6C protein-coding 1606911 LINGO4 leucine rich repeat and Ig domain containing 4 12975309,12477932 339398 NM_001004432,AL589765,AY358115,BC137220,BC137221 NP_001004432,CAI17178,AAQ88482,AAI37221,AAI37222,Q6UY18 Hs.591477 DAAT9248|LRRN6D|PRO34002 leucine rich repeat neuronal 6D|leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4|leucine-rich repeat neuronal protein 6D protein-coding 1602699 LINS1 lines homolog 1 (Drosophila) The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 16344560,14702039,12477932,12119551,8889548,20379614 55180 NM_001040616,AC027020,AC090695,CH471101,AB083157,AK001445,AK093868,AK095448,AK292972,AK298946,BC010363,BI910880,BM723636,CR609634,CR624489,DA674923,DA705707,DA958361,AI301298,DA447859,DA880742 NP_001035706,EAX02270,EAX02271,EAX02272,EAX02273,BAB93864,BAA91696,BAF85661,BAG61045,Q8NG48 Hs.105633 FLJ10583|LINS1|WINS1 WINS1 protein with Drosophila Lines (Lin) homologous domain|lines homolog 1|protein Lines homolog 1|wnt-signaling molecule Lines homolog 1 protein-coding 736562 LIPA lipase A, lysosomal acid, cholesterol esterase This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1600620,1600621,1300048,1580863 16385451,20237496,20379614,8725147,8432549,8254026,8146180,8125298,8112342,7759067,1718995,19343046,19307143,18996102,18796546,16806233,16730122,16344560,16131527,16024911,16013913,15489334,15465627,15164054,14702039,12477932,12162818,9705237,9633819,9373149,8956047,17207965,19913121,20602615,20628086 1600620,1600621 3988 NM_001127605,NM_000235,NG_008194,AL353146,AL353751,AL513533,CH471066,U04285,AK091558,AK096406,AK125193,AK130882,AK222760,AK290241,AK293491,AK297079,AK314665,AU135835,BC012287,CA435432,CR592516,DA275550,M74775,S68069,U08464,X76488,Z31690 NP_001121077,NP_000226,CAI12380,CAI12234,CAI12235,CAI12236,CAI12237,CAI13515,CAI13516,CAI13517,EAW50140,EAW50141,EAW50142,AAB60327,BAG52380,BAG53281,BAC86078,BAD96480,BAF82930,BAG56978,BAG59596,BAG37222,AAH12287,AAA59519,AAB29185,AAB60328,CAA54026,CAA83495,P38571,Q5T073,Q5T770,Q6ZUY8,ADQ31728 Hs.643030 CESD|LAL OTTHUMP00000020067|OTTHUMP00000020068|OTTHUMP00000020069|acid cholesteryl ester hydrolase|cholesterol ester hydrolase|cholesteryl esterase|lipase A, lysosomal acid, cholesterol esterase (Wolman disease)|lysosomal acid lipase|lysosomal acid lipase/cholesteryl ester hydrolase|sterol esterase protein-coding 1345320 LIPB lipase B, lysosomal acid 6937431 3989 736877 LIPC lipase, hepatic LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq] 1580512,1580513,2308800,2308783,2308785,2308786,2308789,2308790,2308792,2308794,2308828,2308849,2308796,2308845,2308793,2308844,2308823,2308846,2308788,2308797,2308824,2308835,2308826,2308829,2308830,2308841,2307432,2308781,1581787,2308784,2308798,2308799,2308822,2308839,2308850,2308836,2308834,2308840,1600654,1600644,1600664,1600663,1331525,1300048,1580863 19136429,19170196,19534808,19558527,19578796,19625176,19656773,19689828,19691831,19692168,19695855,19729601,19734193,19773416,19783858,19810818,19876004,19878569,19913121,19936222,20031551,20125193,20160193,20167577,20186155,20222961,20384434,20385819,20385826,20400780,20403997,20430392,20444273,20452482,20492333,19052449,19043545,19034316,18996102,18978678,18927546,18758746,18724972,18676680,18675312,18660489,18641720,18636124,18622260,18599739,18592285,18513389,18510853,18468200,18413186,18364377,18354102,18275964,18249219,18193044,18193043,18164013,18160998,18084291,18059528,18001531,17919884,17855807,17700364,17568951,17537154,15821100,15817871,15755868,15721010,15657615,15656877,15608561,15379569,15304509,15292318,15292235,15205216,15156410,15135253,15135251,15126514,15099346,14985399,14967812,14709367,14679168,14657196,14650352,14630921,14615390,14608050,14585761,14564687,14557872,15855254,12966036,12964943,12883629,12860265,12818414,12798568,12777476,12777470,12700335,12691171,12689525,12642787,12547874,12544508,12514935,12477932,12417924,12403660,12364543,12364471,12354428,12235167,12116231,12082592,12006918,11971936,11968086,11947893,11916946,11752456,11533368,11512679,11454011,11427226,11427182,11322655,11181756,11171287,10660332,10391209,9645503,8865180,8865179,7721852,3692485,2828141,2605236,2324091,1671786,1301939,20888482,3244012,9685400,182536,2839510,2447084,14531818,8640403,1883393,19528346,19489872,19479237,19429860,19428034,19420105,19367320,19350521,19336370,19285487,19263529,19155782,19155102,19148283,19131662,19101670,19088157,19060911,19060910,19060906,19056482,17440012,17428321,17406067,17399967,17390085,17342071,17327141,17318300,17234195,17222414,17175070,17157861,17137217,17080261,16928730,16879193,16822236,16793047,16770077,16603721,16570154,16554020,16542392,16449872,16427731,16419358,16343038,16338252,16330034,16324926,16316842,16205020,16164573,16153627,16141008,16122151,16115483,16077949,16039291,16038892,16030523,16005462,15983323,15983229,15979432,15961789,15949705,15941898,20691829,20822508,20851298,20855565,20536507,20565774,20602615,20628086,20634891,20673868,20679960,20682687,20595410,20864672 1580512,1580513,2308800,2308783,2308785,2308786,2308789,2308790,2308792,2308794,2308828,2308849,2308796,2308845,2308793,2308844,2308823,2308846,2308788,2308797,2308824,2308835,2308826,2308829,2308830,2308841,2307432,2308781,1581787,2308784,2308798,2308799,2308822,2308839,2308850,2308836,2308834,2308840,1600654,1600644,1600664,1600663,1331525 3990 CR596048,CR612434,CR619207,D83548,J03540,J03895,X07228,NG_011465,AC018904,AC084781,AF037404,CH471082,D83062,M29194,M35433,AI823349,AK290062,AK292631,AK293324,AK309448,AK315306,AV645541,BC132825,BC136495,BC146659,CR590311,NM_000236 BAA12014,AAA59520,AAA61165,CAA30188,P11150,NP_000227,AAC34206,EAW77536,BAA11760,AAB60702,AAA59521,BAF82751,BAF85320,BAG56842,BAG37710,AAI32826,AAI36496,AAI46660,ADR83028 Hs.654472 HDLCQ12|HL|HTGL|LIPH hepatic lipase|hepatic triacylglycerol lipase|lipase member C protein-coding 737132 LIPE lipase, hormone-sensitive The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq] 1300048,2313581,2313584,2313580,2313583,1625026,1581867,1580863 19433586,19491387,19695247,20017959,20495294,12730334,12727985,12701046,12562895,12534454,12518034,12514936,12477932,12364542,11979403,11850754,11846402,11812735,11791141,11731226,11581251,11574428,11063252,11026666,10694408,10445032,10318917,9417067,8812477,8506334,7698015,16169070,17026959,3420405,19369647,19336475,19164092,19018281,18996102,18824087,18820256,18660489,18398140,18383440,18249203,17587400,17356053,17327373,17318300,17074755,16940551,16906479,16822962,16752181,16690773,16534522,16328496,16243839,15871848,15697220,15654127,15627655,15609025,15489334,15456755,15345679,15308678,15260473,15231718,14984467,14745722,14641008,12970365,12925534,12864745,12832420,12765952,19913121,20628086,20734064,20855565 2313581,2313584,2313580,2313583,1625026,1581867 3991 NM_005357,AC011497,CH471126,DQ188033,L11706,AK292482,BC029301,BC029961,BC070041,CR592561,U40002 NP_005348,EAW57135,ABA03168,AAA69810,BAF85171,AAH70041,AAC50666,Q05469 Hs.656980 HSL|LHS hormone-sensitive lipase|hormone-sensitive lipase testicular isoform|lipase, hormone sensitive protein-coding 1343616 LIPF lipase, gastric This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. [provided by RefSeq] 1580863 16385451,20043075,2753032,3304425,18996102,18681781,16344560,16341674,15489334,12941646,12477932,11940604,11241664,11099794,10700046,10411623,10358049,10208872,10092305,15342556,9468252,9373149,9323599,9186906,8359655,8125298,8049245,3181673,20965171,19913121,20602615,20628086,20885390 8513 BP341513,NM_001198828,NM_001198829,NM_001198830,NM_004190,A12714,AL358532,AY631869,CH471066,AK223468,AK301310,AK301320,AK308224,AK310128,AK312940,AL833751,BC112272,BC113711,BM797485,DA967766,X05997,A01046 NP_001185757,NP_001185758,NP_001185759,NP_004181,CAA01053,CAH71056,CAH71057,AAT38115,EAW50161,EAW50162,EAW50163,BAD97188,BAH13457,BAH13459,BAG35782,CAH56244,AAI12273,AAI13712,CAA29413,CAA29414,P07098,Q53F21,Q5VXI7,Q5VXI8,Q658L8,CAA00125,ADR83149 Hs.523130 GL|HGL|HLAL|MGC138477|MGC142271 OTTHUMP00000020039|gastric lipase|gastric triacylglycerol lipase protein-coding 1321819 LIPG lipase, endothelial The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq] 1580864,1580865,1641818,1601237,1641819,1581874,1581875,1580863 10318835,15231747,19136670,10192396,19411665,19287092,19148283,19060911,19060906,18996102,18988890,18683147,18193044,18193043,18039650,17986713,17822686,17700364,17651673,17644777,17570372,17545692,17526978,17495604,17356047,17322565,17016617,16980590,16940551,16877778,16335952,16039280,16023652,15961789,15576837,15485805,15342690,15117821,14667806,14517167,12975309,12966036,12884003,12867537,12601178,12569156,12477932,12164779,12032167,14499622,19913121,20571754,20602615,20628086,20679960,20621031,19380136,17093291,20045866,19780863,17207965,20691829,20855565,20923576,20972250,19411705,19567873,19578796,19878569,19948975,20031538,20167577,20370913,20394740,20466371,20864672 1580864,1580865,1641818,1601237,1641819,1581874,1581875 9388 NM_006033,AC091170,CH471096,AF118767,AK124636,AK125344,AK291799,AK300333,AK315252,AY358928,BC060825,CR610175,AI861822,EU332856 NP_006024,EAW62947,EAW62948,EAW62949,AAD30434,BAF84488,BAG62080,BAG37674,AAQ89287,AAH60825,Q9Y5X9,ADQ32526,ABY87545 Hs.465102 EDL|EL|PRO719 endothelial cell-derived lipase|endothelial lipase|lipoprotein lipase H protein-coding 1320902 LIPH lipase, member H This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq] 1580863 19167195,18830268,18795930,18445047,17333281,17095700,15520410,15489334,14702039,12963729,12719377,12477932,12213196,12063250,17207965,18820939,19262606,19536142,19766349,19892526,20107739,20213768 200879 NM_139248,NG_012183,AC099661,CH471052,AK074229,AK122651,AK298380,AY036912,AY093498,BC064941,BI965988,EF186228,EF186229 NP_640341,EAW78218,BAB85023,BAG53642,BAG60616,AAK63178,AAM18803,AAH64941,ABM67094,ABM67095,Q8WWY8,ADQ32559 Hs.68864 AH|ARWH2|LAH2|LPDLR|PLA1B|mPA-PLA1 LPD lipase-related protein|lipase H|lipase member H|mPA-PLA1 alpha|membrane-associated phosphatidic acid-selective phospholipase A1-alpha|membrane-bound phosphatidic acid-selective phospholipase A1|phospholipase A1 member B protein-coding 1605865 LIPI lipase, member I 1625450 15548687,12963729,12719377,10830953 1625450 149998 NM_198996,AC006556,AF130358,AL078615,AL160451,AP001347,AP001660,AY197607,AY918476,NG_021434 NP_945347,AAP37476,AAX14040,Q5D1Q2,Q6XZB0,AAI40337,AAI48692 Hs.139907 CT17|LPDL|PRED5 LPD lipase|cancer/testis antigen 17|lipase member I|mPA-PLA1 beta|membrane-associated phosphatidic acid-selective phospholipase A1-beta|membrane-associated phospholipase A1 beta protein-coding 1603579 LIPJ lipase, family member J 12477932 142910 NM_001010939,AL139406,CH471066,BC031219,BC042900 NP_001010939,CAH73713,EAW50165,EAW50166,AAH31219,Q5W064 Hs.440959 FLJ11218|LIPL1|bA425M17.2 lipase J|lipase member J|lipase-like abhydrolase domain-containing protein 1|lipase-like, ab-hydrolase domain containing 1 protein-coding 1320217 LIPK lipase, family member K 17562024 643414 NM_001080518,AL358532,EF426482 NP_001073987,CAH71058,ABR08387,Q5VXJ0,AAI52925 Hs.632092 LIPL2|bA186O14.2 lipase K|lipase member K|lipase-like abhydrolase domain-containing protein 2|lipase-like, ab-hydrolase domain containing 2 protein-coding 1312623 LIPM lipase, family member M 17562024,12477932 340654 NM_001128215,AL353113,AL358532,BC157888,BC171908,EF426484 NP_001121687,CAH72238,CAO77925,AAI57889,AAI71908,ABR08389,Q5VYY2 Hs.55118 LIPL3|bA304I5.1 lipase M|lipase member M|lipase-like abhydrolase domain-containing protein 3|lipase-like, ab-hydrolase domain containing 3 protein-coding 1349924 LIPN lipase, family member N 17562024 643418 NM_001102469,AL358532,EF426483 NP_001095939,CAH71060,ABR08388,Q5VXI9 Hs.632091 LIPL4|bA186O14.3 lipase N|lipase member N|lipase-like abhydrolase domain-containing protein 4|lipase-like, ab-hydrolase domain containing 4 protein-coding 1321082 LIPT1 lipoyltransferase 1 The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing in the 5' UTR of this gene results in five transcript variants that encode the same protein. [provided by RefSeq] 10103005,15489334,12477932,9405389,8206978,16169070,17207965,20877624 51601 CH471127,AA811675,AB017566,BC007001,BC009772,BC070145,BQ422048,AC092587,NM_145196,NM_145197,NM_145198,NM_015929,NM_145199,AB017567 AAX88927,EAX01877,BAA76367,AAH07001,AAH09772,AAH70145,Q9Y234,NP_660197,NP_660198,NP_660199,NP_057013,NP_660200,BAA76368,ADQ32754 Hs.719172 MGC12290|MGC13378 OTTHUMP00000203291|OTTHUMP00000203292|OTTHUMP00000203293|OTTHUMP00000203294|lipoate biosynthesis protein|lipoate-protein ligase|lipoyl ligase|lipoyltransferase 1, mitochondrial protein-coding 4889222 LIPT1P1 lipoyltransferase 1 pseudogene 1 100131188 AL512629,NG_021973 pseudo 2947567 LIPT2 lipoyl(octanoyl) transferase 2 (putative) 11181995,15146197,20877624 387787 AP001372,CH471076,CN348282,CX752266,NM_001144869 A6NK58,EAW74939,NP_001138341 Hs.591971 lipoate-protein ligase B|lipoyl/octanoyl transferase|octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase|putative lipoyltransferase 2, mitochondrial|putative octanoyltransferase, mitochondrial protein-coding 735583 LITAF lipopolysaccharide-induced TNF factor Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppresor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 15231748,16169070,18078129,19170196,19305409,19625176,19692168,10200294,15064722,12761501,18029348,19305408,16912585,16872372,16804395,16787513,16373087,16344560,15793005,15786462,15776429,15489334,15197774,15122712,14702039,14641644,12525712,12477932,11713717,11274176,9305847,11042109 9516 NR_024320,NM_001136472,NM_001136473,NM_004862,NG_009008,AC007616,AC099489,CH471112,AA625937,AB034747,AF010312,AK095955,AK130788,AK314519,BC000053,BC008309,BC016491,BC039840,BC046154,BC065293,BC096064,BC096065,BC096066,BC101401,BC101402,BC101969,BI858484,BX537543,CR605952,CR608561,CR610758,CR612710,CR612810,CR623629,BC096063,DA955452,U77396 NP_001129944,NP_001129945,NP_004853,EAW85148,EAW85149,EAW85150,EAW85151,EAW85152,EAW85153,BAB32547,AAC39530,AAH00053,AAH08309,AAH16491,AAH39840,AAH46154,AAH96063,AAH96065,AAH96066,AAI01402,AAI01403,AAI01970,CAD97778,AAB36550,Q99732,ABZ92218,ACE87280,ACE86599 Hs.459940 FLJ38636|MGC116698|MGC116700|MGC116701|MGC125274|MGC125275|MGC125276|PIG7|SIMPLE|TP53I7 LPS-induced TNF-alpha factor|lipopolysaccharide-induced TNF-alpha factor|lipopolysaccharide-induced tumor necrosis factor-alpha factor|lps-induced tnf-alpha factor|p53-induced gene 7 protein|small integral membrane protein of lysosome/late endosome|tumor protein p53 inducible protein 7 protein-coding 1343566 LIX1 Lix1 homolog (chicken) 11731258,18395445,15489334,14702039,12638132,12477932,19664890,19834535 167410 NM_153234,AC008865,CH471084,AK098400,AK291034,AK307885,BC036467 NP_694966,EAW96086,EAW96087,BAC05298,BAF83723,AAH36467,Q8N485 Hs.656702 C5orf11|FLJ25534 limb expression 1|protein limb expression 1 homolog protein-coding 1350339 LIX1L Lix1 homolog (mouse)-like 737633 15489334,12477932 737633 128077 NM_153713,AL160282,CH471244,AK123675,AK128733,BC035727,CR627381 NP_714924,EAW71416,EAW71417,BAG54720,AAH35727,CAH10478,Q8IVB5 Hs.632435 DKFZp762F237|MGC46719 LIX1-like protein protein-coding 733152 LLGL1 lethal giant larvae homolog 1 (Drosophila) This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 16169070,18793635,19447873,7542763,18074678,17369850,16170365,15735678,15489334,15467749,12725730,12477932,9177775,8565641,11997338,11714708,19913121,20628086,20562859 3996 NM_004140,AC109515,AC127537,CH471196,BC028037,BC028214,BC051466,BC151838,BQ923585,BQ937224,D50550,X86371 NP_004131,EAW55657,EAW55658,EAW55659,EAW55660,AAH28037,AAH28214,AAI51839,BAA19516,CAA60130,Q15334,AAI67831 Hs.513983 DLG4|HUGL|HUGL-1|HUGL1|LLGL human homolog to the D-lgl gene protein|lethal(2) giant larvae protein homolog 1 protein-coding 1353110 LLGL2 lethal giant larvae homolog 2 (Drosophila) The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 19407852,19851296,20198315,20233622,18029348,19403135,18199550,18155665,15632202,15489334,14702039,12725730,12477932,20941506 3993 NM_001031803,NM_004524,NM_001015002,AC100787,CH471099,AK025401,AK125563,AK126687,AK301204,AK315126,BC006503,BC010879,BC031842,BC064994,BC067840,CR590521,X87342 NP_001026973,NP_004515,NP_001015002,EAW89280,EAW89281,EAW89282,EAW89283,BAG54359,BAG62781,AAH06503,AAH10879,AAH31842,AAH64994,CAA60780,Q6P1M3 Hs.514477 HGL|LGL2 human giant larvae homolog|lethal(2) giant larvae protein homolog 2 protein-coding 1349298 LLP lactation, late, protein (macropodids) 3997 1604260 LLPH LLP homolog, long-term synaptic facilitation (Aplysia) 16189514,15489334,14702039,12477932 84298 NM_032338,AC078927,CH471054,CS300557,AK057947,AK091568,BC006002,BC070232,BC107780,CR600894 NP_115714,EAW97155,EAW97156,CAK32221,BAC03699,AAH06002,AAH70232,AAI07781,Q9BRT6 Hs.504820 C12orf31|MGC104302|MGC14817|hLLP human LAPS18-like protein|protein LAPS18-like|protein LLP homolog protein-coding 732234 LMAN1 lectin, mannose-binding, 1 The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq] 1600100,1580863 19380618,19423540,20007547,20138881,20237496,20406964,20438785,9774442,19913121,20628086,7876089,9546392,19118014,18974842,18577465,18508857,18391077,18287528,18025080,17535801,17496053,17010120,16938437,16735443,16670774,16257008,16114131,16054885,16044454,15886209,15728497,15716605,15632110,15489334,15308636,15292203,15166951,15145932,15117939,14732744,14629470,14593599,12727195,12717434,12672193,12665801,12477932,12175909,11992290,11840567,11607788,11561111,11333866,10090935,9373149,9245995,8854877,8223692,8205612,8125298,12560567,12487819,10725420,8666845,8267903,15572157,12941144 1600100 3998 AC067859,NM_005570,NG_012097,AC016229,AF081866,AF081869,AF081871,AF081873,AF081875,AF081877,AF081879,AF081880,AF081882,AF081884,AF081885,CH471096,AI280513,AK025773,AK223208,AK225108,AK225111,AK301244,AK312869,BC008401,AF081867,BC017858,BC032330,CR592087,CR599221,CR600055,CR609154,CR618370,CR625542,DC308886,U09716,X71661 NP_005561,AAD32479,AAD32480,AAD32481,AAD32482,AAD32483,AAD32484,AAD32485,AAD32486,AAD32487,AAD32488,AAD32489,AAD32490,EAW63096,EAW63097,EAW63098,BAD96928,BAG62812,BAG35721,AAH17858,AAH32330,AAA95960,CAA50653,P49257,Q53FS4,ABM82180,ABM85366 Hs.465295 ERGIC-53|ERGIC53|F5F8D|FMFD1|MCFD1|MR60|gp58 ER-Golgi intermediate compartment 53 kDa protein|endoplasmic reticulum-golgi intermediate compartment protein 53|intracellular mannose specific lectin|intracellular mannose-specific lectin MR60|protein ERGIC-53 protein-coding 1321499 LMAN1L lectin, mannose-binding, 1 like 1580863 19430483,20237496,20379614,11255007,18283111,18056485,17805346,15489334,14702039,12975309,12880961,12477932 79748 NM_021819,AC091230,CH471136,AF303398,AK092591,AK291819,AK294807,AK300517,AK309976,AY358724 NP_068591,EAW99308,EAW99309,EAW99310,AAG30902,BAF84508,BAG57926,BAG62229,AAQ89086,Q7L876,Q8TEE7,Q9HAT1,AAI56428,AAI72487 Hs.620644 ERGIC-53L|ERGL ERGIC-53-like protein|ERGIC53-like protein|LMAN1-like protein|lectin mannose-binding 1-like|protein ERGIC-53-like protein-coding 1319046 LMAN2 lectin, mannose-binding 2 This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq] 1580863 17586539,17169971,16129679,15489334,15308636,12878160,12754519,12609988,12517452,12477932,11359937,10444376,9373149,8125298,18025080,20477988,20383146 10960 NM_006816,AC146507,CH471195,AK222609,AK292099,AK301607,AK308027,BC017263,CR590886,CR591337,CR592547,CR593369,CR593789,CR593805,CR593856,CR598261,CR598935,CR599240,CR599898,CR600280,CR600316,CR600342,CR602519,CR606209,CR608422,CR609629,CR618804,CR620709,CR624761,CR626189,DC404202,U10362 NP_006807,EAW85014,EAW85015,BAD96329,BAF84788,BAG63093,AAH17263,AAA19572,Q12907 Hs.75864 C5orf8|GP36B|VIP36 OTTHUMP00000223591|OTTHUMP00000223592|OTTHUMP00000223593|glycoprotein GP36b|vesicular integral protein of 36 kDa|vesicular integral-membrane protein VIP36 protein-coding 1322831 LMAN2L lectin, mannose-binding 2-like 1580863 16381901,16303743,15815621,15489336,15489334,12975309,12477932,11230166,11076863,9373149,8125298,18025080,12609988,12878160 81562 NR_024520,NR_024519,NR_024518,NM_030805,NM_001142292,AC068539,CH471207,AJ549957,AK075347,AK222828,AK295463,AK299740,AK301077,AK304515,AK308085,AK310100,AK312249,AK316331,AL136617,NR_024521,AY358929,BC000347,BC004505,BC005822,BC005862,BC067265,BX648002,CR597210,CR616548,CR624728 NP_110432,NP_001135764,AAX93211,EAW71341,EAW71342,EAW71343,EAW71344,CAD71268,BAC11559,BAD96548,BAG58395,BAG61635,BAG62683,BAG65320,BAG35181,BAH14702,CAB66552,AAQ89288,AAH00347,AAH05822,AAH05862,AAH67265,CAH56196,Q9H0V9,CAL37585,ACE87237,ACE86555 Hs.655743 DKFZp564L2423|MGC11139|VIPL LMAN2-like protein|VIP36-like protein protein-coding 1352056 LMBR1 limb region 1 homolog (mouse) This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq] 19136951,18698406,17300748,17152067,16381901,16344560,15489336,15489334,14727139,14702039,12853948,12837695,12690205,12491086,12477932,12032320,11606546,11333865,11090342,11076863,10945466,10329000,9847074,8533803,20068592,20379614 64327 AF063592,AF348513,AF402318,AK021727,AK026940,AK291037,AK299753,AL833934,AL834394,BC017663,BC063649,CR594042,CR612009,CR622323,DA238712,H18430,NM_022458,NG_009240,AC005534,AC007075,AC007097,CH236954,CH471149 AAG43151,AAK31345,AAK94061,BAB13880,BAB15595,BAF83726,BAH13119,CAD38789,CAD39056,AAH17663,Q7LDY5,Q8NDP7,Q8WVP7,Q9H3J2,CAL37499,CAL38021,CAL38132,CAL38703,NP_071903,AAD43188,AAF03516,AAS00382,EAL23920,EAX04559,EAX04560,EAX04561,EAX04562 Hs.209989 ACHP|C7orf2|DIF14|FLJ11665|PPD2|TPT OTTHUMP00000211720|chromosome 7 open reading frame 2|differentiation-related gene 14 protein|limb region 1 protein homolog protein-coding 1603995 LMBR1L limb region 1 homolog (mouse)-like 16423471,16344560,15489334,14702039,12975309,12591932,12477932,11287427,10574461,19136951,17991420 55716 NM_018113,AC011603,AF351620,CH471111,AB033000,AF260728,AK001356,AK001651,AK093570,AK298026,AK298859,AK310064,AK310674,AL137599,AL556633,AY358572,BC008337,BC015015,BC031550,CR594846,CR625783,DA012883 NP_060583,AAK63067,EAW58040,EAW58041,EAW58042,EAW58043,EAW58044,EAW58045,EAW58046,EAW58047,BAA86488,AAK60600,BAA91646,BAA91811,BAG60328,BAG60981,CAB70835,AAQ88935,AAH08337,AAH15015,AAH31550,Q6UX01,ABM83333,ABM86545 Hs.272838 FLJ10494|FLJ36251|KIAA1174|LIMR limb region 1 protein homolog-like|lipocalin-1 interacting membrane receptor|lipocalin-1-interacting membrane receptor|lipocalin-interacting membrane receptor|protein LMBR1L protein-coding 733977 LMBRD1 LMBR1 domain containing 1 LMBRD1 encodes a putative lysosomal cobalamin exporter (Rutsch et al., 2009 [PubMed 19136951]).[supplied by OMIM] 20339536,19136951,15956556,15489334,14702039,14574404,12477932,11042152,9373149,8125298,16344560,20127417 55788 NM_018368,AL358133,AL583831,AL590702,CH471051,AF113224,AF208863,AF211480,AK002102,AK225187,AK225537,AK290069,AY136817,BC010360,BC047073,BX647737,CR595980,CR612672,CR618396,AB074281,AK021916,BJ995961,DA028310,NG_016012 NP_060838,CAI16835,CAI16836,CAH74081,CAH74083,CAI17314,CAI17316,EAW48831,EAW48832,EAW48833,EAW48834,EAW48835,AAG39295,AAF64277,AAK26247,BAA92087,BAF82758,AAN11301,AAH10360,AAH47073,Q9NUN5 Hs.271643,Hs.677072 C6orf209|FLJ11240|FLJ11854|LMBD1|NESI|RP11-810I22.1|bA810I22.1|cblF HDAg-L-interacting protein NESI|LMBR1 domain-containing protein 1|OTTHUMP00000016692|hepatitis delta antigen-L interacting protein|liver regeneration p-53 related protein|nuclear export signal-interacting protein|probable lysosomal cobalamin transporter protein-coding 1603597 LMBRD2 LMBR1 domain containing 2 14702039,12477932,19176441 92255 NM_001007527,AC008942,CH471119,AK091295,AK300433,AK307575,AL137370,BC110506,BC110507,BI559676,BX647340,CR749399 NP_001007528,EAW55932,EAW55933,BAG52328,BAG62159,CAB70714,AAI10507,CAH18245,Q68DH5 Hs.294103 DKFZp434H2226|DKFZp686G1057|MGC125692|MGC125693 LMBR1 domain-containing protein 2 protein-coding 1319043 LMCD1 LIM and cysteine-rich domains 1 The protein encoded by this gene contains a cysteine-rich domain in the N-terminal region and 2 LIM domains in the C-terminal region. It also has several potential phosphorylation and N-myristoylation sites and a single potential N-glycosylation site. The presence of LIM domains implies involvement in protein-protein interactions. Expression of this gene has been detected in most tissues, with highest expression in skeletal muscle. Transcript variants utilizing alternative polyA signals have been observed. [provided by RefSeq] 1580863 20098747,15489334,14702039,12477932,10662546,20379614 29995 AK293849,AK294455,BC000646,NM_014583,AC087859,CH471055,AF169284,AF216709,AK022176,AK300803 BAB13976,BAG57247,BAG57691,AAH00646,Q9NZU5,ABM82673,ABM85852,NP_055398,EAW63937,EAW63938,AAF34411,AAG36778,BAH13351 Hs.475353 LIM and cysteine-rich domains protein 1|OTTHUMP00000207036|dyxin protein-coding 1348602 LMF1 lipase maturation factor 1 8889548,19471043,19783858,19820022,20379614,17994020,16344560,15489334,15221005,14702039,12477932,11157797,9373149,8125298 64788 BM017667,CK300754,NR_036442,NG_021286,NR_033645,NR_033646,Z93041,BC028099,AC009041,AE006465,AL008727,AL031008,AL031716,CH471112,CQ834724,AB075873,AK022743,AK025955,AK093050,AK125201,AK225065,AK225406,AK294329,AK294932,AL832177,BC010738,BC014196,CA427159,CR620877,DA200865,NM_022773,CR616309,CR620551 AAH28099,Q8N354,NP_073610,AAK61259,CAB56180,EAW85696,EAW85697,EAW85698,EAW85699,EAW85700,CAH05577,BAD38655,BAB14218,BAB15295,BAG52642,BAG54164,BAG57601,BAG58011,AAH10738,Q4VXX9,Q96S06,AAI56646 Hs.713150,Hs.71912 C16orf26|FLJ12681|FLJ22302|HMFN1876|JFP11|TMEM112|TMEM112A chromosome 16 open reading frame 26|lipase maturation factor 1|transmembrane protein 112 protein-coding 1606481 LMF2 lipase maturation factor 2 15461802,12477932 91289 NM_033200,CH471138,U62317,AK130818,BC002942,BC014652,BC021143,CR456605,CR595569,CR618750,CR626809,BI917400,BU628394,BX412067 NP_149977,EAW73548,EAW73549,EAW73550,EAW73551,AAB03346,BAC85437,AAH02942,AAH14652,AAH21143,CAG30491,Q9BU23 Hs.150540 TMEM112B|TMEM153 OTTHUMP00000218700|OTTHUMP00000218701|lipase maturation factor 2|transmembrane protein 112B|transmembrane protein 153 protein-coding 1322938 LMLN leishmanolysin-like (metallopeptidase M8 family) This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 16344560,15557119,18029348,19706689 89782 NM_033029,NR_026786,NR_026787,AC135893,CH471252,AI967988,AJ312398,AJ312399,AK299119,AL832783,AM920777,AM920778,DB054915,NM_001136049 AAI48742,NP_001129521,NP_149018,EAW92251,EAW92252,EAW92253,CAC42882,CAC42883,BAG61174,CAP49203,CAP49204,Q96KR4,AAI46294 Hs.518540 GP63|INV|IX14|MSP OTTHUMP00000207836|invadolysin|leishmanolysin-2|leishmanolysin-like peptidase protein-coding 732790 LMNA lamin A/C The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Through alternate splicing, this gene encodes three type A lamin isoforms. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq] 1580514,1580515,1580516,1580530,2306091,2306123,2306122,2306094,2302364,2306095,2306092,2306121,1624984,1624985,1358482,737720 18926329,18923140,18848371,18843043,18830724,18816602,18805829,18795223,18767923,18714801,18714339,18667561,18646565,18643848,18612243,18611980,18606848,18604166,18585512,18564364,18551513,18549403,18538321,18524819,18502446,18497734,18478590,18442998,15635413,15622532,15551023,15527767,15489334,15476822,15372542,15342704,15317753,15302935,15298354,15284226,15265697,15219508,15205220,15205219,15184648,15080529,15032975,15026149,14985400,14759373,14702039,14675861,14644157,14627682,14597414,13129702,12927431,12920062,12844477,12788894,12783988,12768443,12729796,12718522,12714972,12702809,12673789,12629077,12628721,12534602,12524233,12477932,12475961,12467734,12429849,12409453,12196663,12154369,12145775,12138353,12112001,12075506,12057196,12032588,12018485,12015247,11973618,11953316,11929849,11901143,11897440,11836312,11833462,11799477,11792821,11792811,11792810,11792809,11790298,11709282,11691994,11576443,11532159,11503164,11440372,11344241,11243729,11231979,11173535,10999791,10984438,10960149,10814726,10806082,10739764,10739751,10727209,10673356,10662742,10655060,10587585,10580070,10514485,10508479,10080180,9563518,9436978,9367621,9274531,9243284,9106535,9030603,8978814,8889548,8838815,8621584,8511676,8477740,8344919,8324822,8278403,8058329,7951328,7925482,3462705,3453101,3403563,2544227,2406262,2344612,2209722,1667585,1602151,1599464,12755701,12670476,12163176,7628545,11801724,18029348,18809582,19490114,19442658,19427440,19424285,19401371,19384091,19351612,19328042,19318026,19283854,19270485,19247430,19204888,19201734,19144202,19141474,19126678,19124654,19084400,19022376,19015316,18982914,18959190,18950579,18946024,18442054,18396274,18364375,18348272,18339564,18337098,18311132,18308323,18093584,18077842,18041775,18035086,18031308,17994215,17987279,17935239,17893350,17881656,17870066,17848622,17760566,17718387,17711925,17701980,17612587,17605093,17550303,17536044,17469202,17459035,17454124,17428859,17360355,17360326,17352743,17334235,17327461,17327460,17327437,17301031,17291448,17227891,17150192,17136397,17117676,17097067,17090536,17081983,17069459,16981056,16964243,16916647,16825283,16823856,16779558,16772334,16738054,16697197,16645051,16565220,16518869,16481476,16461887,16410549,16371512,16357800,16344560,16344005,16289535,16288872,16262891,16248985,16246140,16239243,16236267,16218190,16179429,16169070,16129833,16126733,16117820,16084085,16083285,16061563,15998779,15982412,15961312,15919811,15798706,15793835,15748902,15668447,15639119,15636422,20045150,20562859,15355978,20886652,19913121,19926845,20485444,20498703,20526372,20628086,20041886,20625965,18836436,19734887,19759913,20605919,10381623,15671068,16266469,16452503,18497856,18691775,19172989,19220582,19323649,19446900,19524666,19574635,19578796,19589617,19638735,19644448,19645629,19672032,19680556,19768759,19775189,19841875,19855837,19859838,19875404,19875478,19882644,19933576,19938095,19948975,19958786,20004208,20054742,20079404,20092787,20127487,20130076,20147387,20160190,20307303,20458013,20474083,20501691,20497714,20819672,20884875 1580514,1580515,1580516,1580530,2306091,2306123,2306122,2306094,2306095,2306092,2306121,1624984,1624985,1358482,737720 4000 NM_170707,NM_170708,NM_005572,NG_008692,AL135927,AL356734,CH471121,L12399,AA558657,AF381029,AK026584,AK056143,AK056191,AK057997,AK097801,AK098128,AK122732,AK130179,AK294217,AK295390,AK309539,AY357727,AY528714,AY847595,AY847596,AY847597,BC000511,BC003162,BC014507,BC018863,BC033088,BU732343,CB854404,CR598617,CR600170,CR603908,CR604156,CR605674,CR619146,CR620993,CR622626,CR623720,CR626536,DA421696,M13451,M13452,X03444,X03445 NP_733821,NP_733822,NP_005563,CAI15520,CAI15521,CAI15522,CAI15523,CAI15526,CAI15527,EAW52996,EAW52997,EAW52998,EAW52999,EAW53000,AAK59326,BAG57524,BAG58344,AAR29466,ABB04050,AAW32538,AAW32539,AAW32540,AAH00511,AAH03162,AAH14507,AAH33088,AAA36164,AAA36160,CAA27173,CAA27174,P02545,Q3BDU5,Q5I6Y4,Q5I6Y5,Q5I6Y6,Q5TCJ4,Q6UYC3,Q8N519,ACE87276,ACE86595,ACE87517,ACE86831 Hs.594444 CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|PRO1 70 kDa lamin|OTTHUMP00000015843|OTTHUMP00000015846|OTTHUMP00000015847|lamin A/C-like 1|lamin a|lamin-A/C|prelamin-A/C|renal carcinoma antigen NY-REN-32 2289451,2315765,2315816 BW299_H,GLUCO149_H,GLUCO177_H protein-coding 733220 LMNB1 lamin B1 The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B1. [provided by RefSeq] 1580863 7557986,19383719,19348623,19198602,19151023,19141474,19001169,18524819,18334554,17550303,16543417,16410549,16365157,16344560,16283426,16236267,16216881,16083285,15635413,15284226,15265697,14504265,12898336,12490158,12477932,12135703,11901153,11792809,11790298,11691994,11331782,10960149,10806082,10679189,9490046,9436978,9367621,9305626,9243284,8838815,8034666,2544227,2406262,2325650,2023931,1986862,11095689,11441066,8324822,12670476,7628545,19522540,20004208,20085707,8978814,9128241,19961535,20816241 4001 NM_005573,NG_008360,AC137794,CH471086,L37737,L37738,L37739,L37740,L37741,L37742,L37743,L37744,L37745,L37746,L37747,AK303084,AK312603,AU134245,BC012295,BC052951,BC078178,BC103723,CR609276,M34458,AW512433,NM_001198557 NP_005564,EAW48845,EAW48846,AAC37575,BAG64195,BAG35493,AAH12295,AAH78178,AAI03724,AAA36162,P20700,Q6DC98,ABM82518,ABW03383,NP_001185486 Hs.89497 ADLD|LMN|LMN2|LMNB|MGC111419 lamin-B1 protein-coding 1345535 LMNB2 lamin B2 The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B2. This gene is in a head-to-tail orientation with the gene for the translocase of inner mitochondrial membrane 13 homolog gene. [provided by RefSeq] 1580863 19165527,17290216,17081983,17070523,16826530,16543417,15611042,15489334,15284226,15057824,15024083,12912926,12902329,12477932,11691994,11207047,10960149,10835276,10806082,9436978,9243284,8543011,3515346,2544227,2406262,1939065,1630457,1291239,924328,15910003,19913121,20628086,20004208,9490046 84823 NM_032737,NG_008355,AC005624,AC011522,CH471139,M94363,AL560944,BC006513,BC006551,BC009267,BE791439,BE791473,BM757169,BT007441,CR594022,CR596055,CR599500,CR621930,M94362 NP_116126,AAC34573,EAW69378,EAW69379,AAB00873,AAH06551,AAP36109,AAA80979,Q03252,ACE87744,ACE87063 Hs.726046 LAMB2|LMN2|MGC2721 lamin-B2 protein-coding 1354137 LMNL1 lamin A/C-like 1 8511676 4002 1344804 LMNL2 lamin A/C-like 2 8511676 4003 1352109 LMO1 LIM domain only 1 (rhombotin 1) LMO1 enocdes a cysteine-rich, two LIM domain transcriptional regulator. It is mapped to an area of consistent chromosomal translocation in chromosome 11, disrupting it in T-cell leukemia, although more rarely than the related gene, LMO2 is disrupted. [provided by RefSeq] 1580863 2303035,17471240,16103065,15489334,12477932,11528126,10603358,9872335,9020185,8876198,8595880,8078932,7957052,3259177,2501659,2311586,2052354,2034676,1703797,1507224,9819382,17207965,21124317,20200953,20379614 4004 NM_002315,AC091013,AJ277662,CH471064,U73635,BC039512,BC069673,BC069752,BC069793,BC096056,BC096057,BC096058,M26682,X64244 NP_002306,CAC14587,EAW68626,AAH39512,AAH69673,AAH69752,AAH69793,AAH96056,AAH96057,AAH96058,AAA36819,P25800,Q4VBC4,Q8IXR0,ADQ32867 Hs.654426 MGC116692|RBTN1|RHOM1|TTG1 LIM domain only protein 1|LMO-1|T-cell translocation protein 1|cysteine-rich protein TTG-1|rhombotin-1 protein-coding 1316093 LMO2 LIM domain only 2 (rhombotin-like 1) LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 1923511,19487290,19336552,19141387,19047678,18676680,18187418,18079736,17972953,17964543,17910069,17878155,17360939,17268520,17038524,16873670,16793212,16314316,16189514,15761153,15541480,15489334,15146197,12878195,12727888,12609830,12477932,12067721,11882901,11751867,11069036,10866689,10431247,9819382,9736723,9452425,9391090,9214632,9209374,9129143,9001422,8889548,8078932,7957052,7731680,7568177,7475267,2052354,2034676,16407974,12239153,20557670,20686118,17437998,18763096,18844071,19170196,19278969,19336746,19568416,19573080,19625176,19635185,19671288,19692168,19773279,20346173,20660332,20676125,21059912,20519628,20697248,20731704 4005 NM_005574,NM_001142315,NM_001142316,AC113192,AC132216,CH471064,AF257211,BC034041,BC035607,BC042426,BC073973,BM690599,BM699014,CN355348,CR604507,CR614368,CR625714,X61118 NP_005565,NP_001135787,NP_001135788,EAW68181,EAW68182,AAF98804,AAH34041,AAH35607,AAH42426,AAH73973,CAA43430,P25791,ABM83259,ABM86464 Hs.34560 RBTN2|RBTNL1|RHOM2|TTG2 LIM domain only protein 2|LMO-2|T-cell translocation gene 2|T-cell translocation protein 2|cysteine-rich protein TTG-2|rhombotin 2|rhombotin-2|rhombotin-like 1 protein-coding 1346701 LMO3 LIM domain only 3 (rhombotin-like 2) 18366104,17948872,17579611,17314918,16713569,16189514,15930276,15489334,14702039,12477932,11489251,1507224,19025233,19409950,19726478,19995558,20141587 55885 BG714670,BI553855,CR598247,CR611918,NM_001001395,NM_018640,AC007529,AC007552,CH471094,M64358,AB044745,AB044746,AF258348,AK095595,AK308594,AK308826,AK308896,AK312418,AL050152,AL050188,BC017777,BC026311,BC050085,AK294474,AK316021,AK294909 Q58A67,Q8TAP4,Q9NYC6,ABZ92403,AAH50085,NP_001001395,NP_061110,EAW96370,EAW96371,EAW96372,EAW96373,EAW96374,EAW96375,EAW96376,EAW96377,BAD93349,BAD93350,AAF71368,BAC04582,BAG35328,AAH17777,AAH26311,BAG57701,BAG57996,BAH14392 Hs.504908 DAT1|MGC26081|RBTN3|RBTNL2|RHOM3|Rhom-3 LIM domain only protein 3|LMO-3|neuronal specific transcription factor DAT1|neuronal-specific transcription factor DAT1|rhombotin-3|rhombotin-like 2 protein-coding 1313837 LMO4 LIM domain only 4 This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq] 19020036,19648968,19733838,20526802,10209267,19111533,19099607,18950845,18615156,18231110,17001033,15897450,15894532,15677447,15489334,15231748,12878195,12877980,12477932,12153047,11751867,10556429,9736723,12925972,12727888,20936779 8543 NM_006769,AC092392,CH471097,AI962216,AK292578,AW162477,BC003600,BC017673,BC065818,BU580860,BU619915,CR599134,U24576 NP_006760,EAW73168,EAW73169,BAF85267,AAH03600,AAH17673,AAH65818,AAB51073,P61968,ABM82373,ABM85552 Hs.436792 LIM domain only protein 4|LIM domain transcription factor LMO4|LMO-4|breast tumor autoantigen protein-coding 1351855 LMO7 LIM domain 7 This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq] 1580863 10531035,9826547,17081983,17067998,16964243,16344560,16192285,16083285,15324660,15302935,14702039,12477932,12168954,11935316,10737800,10048485,15778465,15782160,16169070,20379614 4008 AW805522,BC036428,DB064574,DB227898,U90654,NM_005358,NM_015842,AF092557,AL137121,AL137244,AL137782,AL359392,CH471093,AA777749,AB020665,AF144237,AF174600,AF330045,AK055465,AK074265,AK092052,AK304051 BAH14099,AAB86592,Q5TBK5,Q8WWI1,AAI48409,NP_005349,NP_056667,AAC96299,AAC96300,CAI39480,CAI12422,CAI12423,CAI40007,CAI40008,CAI40209,EAW80549,EAW80550,EAW80551,EAW80552,EAW80553,EAW80554,EAW80555,BAA74881,AAD33924,AAF04521,AAL37480 Hs.207631 FBX20|FBXO20|KIAA0858|LOMP F-box only protein 20|F-box protein Fbx20|LIM domain only 7|LIM domain only protein 7|LMO-7|OTTHUMP00000018514|zinc-finger domain-containing protein protein-coding 1316308 LMOD1 leiomodin 1 (smooth muscle) The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq] 1580863 18029348,8811043,2026759,18676680,16633140,16344560,12477932,11350761,11318603,10520227,19913121,20628086,14627618,19170196,19625176,19692168 25802 NM_012134,AC099676,AL513217,CH471067,AK126474,AK295824,AK304852,BC001755,BC080187,DB228115,X54162 NP_036266,EAW91380,EAW91381,BAG54332,BAG58641,BAG65591,AAH01755,AAH80187,CAA38101,P29536,Q9BV00 Hs.519075 1D|64kD|D1|FLJ55689|SM-LMOD 64 kDa autoantigen 1D|64 kDa autoantigen 1D3|64 kDa autoantigen D1|leimodin 1 (smooth muscle)|leiomodin, muscle form|leiomodin-1|smooth muscle leiomodin|thyroid and eye muscle autoantigen D1 (64kD)|thyroid-associated ophthalmopathy autoantigen protein-coding 1603238 LMOD2 leiomodin 2 (cardiac) 12690205,12477932,11318603,9847074,18403713,16633140 442721 NM_207163,CH236947,AK299389,AK299434,AK300698,BC017911,BC062765,DC385641 NP_997046,EAL24335,BAG61374,BAG61412,BAG62379,AAH17911,AAH62765,Q6P5Q4 Hs.592260 C-LMOD cardiac leiomodin|leiomodin-2 protein-coding 1603025 LMOD3 leiomodin 3 (fetal) 16633140,16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863 56203 NM_198271,AC092060,CH471055,AK057852,AK096900,AK300096,AL832033,AL832709,BC017925,BC039202,BC121019 CAL38080,NP_938012,EAW65471,EAW65472,BAB71596,BAG61897,CAI46110,AAH39202,AAI21020,Q0VAK6 Hs.350621 DKFZp313F0135 OTTHUMP00000213437|OTTHUMP00000213438|leiomodin, fetal form|leiomodin-3 protein-coding 1345388 LMPDZ1 LIM and PDZ domains 1 634540 634540 337938 1315801 LMTK2 lemur tyrosine kinase 2 1580863 12393858,19423541,19366831,19318432,18794092,18429820,18264097,18029400,17081983,16887929,16428298,15005709,12853948,12832520,12690205,10470851,20564319,12477932,14702039,19549807,19767753,19855435,19866473,19900942,19902474,20450899,20460480,20878950,21071540 22853 NM_014916,AC073101,AC091654,CH236956,CH471091,AB029002,AW183515,AY130988,BC131504,BC146773,BF001752,BM172505,AK128506,BC080576,BE049530,NG_013375,CS542494 NP_055731,AAS07515,EAL23894,EAW76719,EAW76720,EAW76721,BAA83031,AAN08717,AAI31505,Q8IWU2,AAI67828,CAM91184 Hs.444179 AATYK2|BREK|FLJ46659|KIAA1079|KPI-2|KPI2|LMR2|cprk CDK5/p35-regulated kinase|apoptosis-associated tyrosine kinase 2|brain-enriched kinase|cyclin-dependent kinase 5/p35-regulated kinase|hBREK|kinase phosphatase inhibitor 2|kinase/phosphatase/inhibitor 2|serine/threonine-protein kinase KPI-2|serine/threonine-protein kinase LMTK2 protein-coding 1351306 LMTK3 lemur tyrosine kinase 3 1580863 15489334,12477932,11572484,16169070 114783 NM_001080434,AC008403,AB067470,BC036690,CR618787 NP_001073903,BAB67776,AAH36690,Q96Q04 Hs.207426 KIAA1883|LMR3|TYKLM3 serine/threonine-protein kinase LMTK3 protein-coding 1312426 LMX1A LIM homeobox transcription factor 1, alpha Insulin is produced exclusively by the beta cells in the islets of Langerhans in the pancreas. The level and beta-cell specificity of insulin gene expression are regulated by a set of nuclear genes that bind to specific sequences within the promoter of the insulin gene (INS; MIM 176730) and interact with RNA polymerase to activate or repress transcription. LMX1 is a homeodomain protein that binds an A/T-rich sequence in the insulin promoter and stimulates transcription of insulin (German et al., 1994 [PubMed 7698771]).[supplied by OMIM] 1358758,9199284,19189040,19064610,16710414,15188402,15183721,14702039,12477932,12062816,9452425,9441763,9315627,7698771,18832589,19536175,20379614,8889548,21177773,20570600 4009 NM_177398,AL160058,AL390730,AL590112,AY078391,AY078392,AY078393,AY078394,AY078395,AY078396,AY078397,AY078398,CH471067,AK122800,AK127724,BC066353,BC119743,BC119744,CS406131,BM678780,NM_001174069 NP_796372,CAH71967,CAH73258,AAL82892,AAL82893,EAW90743,EAW90744,BAG54558,AAH66353,AAI19744,AAI19745,Q6NZ39,Q8TE12,AAI60062,CAL40521,NP_001167540 Hs.667312 LMX-1|LMX1|LMX1.1|MGC87616 LIM homeobox transcription factor 1-alpha|LIM/homeobox protein 1.1 1643243,2314796,2314802,2315058,2316879 BW132_H,GLUCO121_H,GLUCO118_H,GLUCO133_H,GLUCO304_H protein-coding 1345352 LMX1B LIM homeobox transcription factor 1, beta 1599750,1599751,1580863 12792813,10767331,9590287,9618165,9837817,19189040,18996370,18952915,18634531,18595794,18562181,18414507,17905480,17728669,17710881,17515884,15928687,15638822,12819019,12646768,12477932,11978876,11956245,11956244,11668639,10854116,10571942,9590288,9441763,9199284,20211142,20643727,20570600,20583170,20634891,20531206,17207965,15498463,19562271,19721866,20935630 1599750,1599751 4010 AL161731,AL161908,CH471090,AF057135,BC069588,BC069601,BC112120,BC113491,BC143801,U77457,NM_002316,AF059575,EL952935,NG_017039,NM_001174146,NM_001174147 AAC27294,CAI40917,CAI40918,CAH70294,CAH70295,EAW87641,EAW87642,AAC39738,AAH69588,AAH69601,AAI12121,AAI13492,AAI43802,AAC13544,O60663,Q6ISE0,Q9UE66,NP_002307,ADQ31979,NP_001167617,NP_001167618,ADR82982 Hs.129133 LMX1.2|MGC138325|MGC142051|NPS1 LIM homeobox transcription factor 1-beta|LIM/homeobox protein 1.2|LIM/homeobox protein LMX1B|LMX-1.2|OTTHUMP00000022154 protein-coding 2291790 LNP1 leukemia NUP98 fusion partner 1 16467868,14702039,12477932 348801 NM_001085451,AC093003,AC128693,AC139015,CH471052,AK056320,AW295433,BC040562,BC067886,BC126362,BC130480,BC144031,CR601329,CR622177 NP_001078920,EAW79821,BAG51675,AAI26363,AAI30481,AAI44032,A1A4G5,ADR82843 Hs.591294 OTTHUMP00000214042|leukemia NUP98 fusion partner 1 protein-coding 732137 LNPEP leucyl/cystinyl aminopeptidase This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 2302393,2306436,2314919,2314923,2311543,1582109,2314920,2314921,2311542,2314922,2314924,1581849,1581864,1580863 1731608,20304486,15691326,9177475,8550619,19498108,18996364,18502721,18398343,17999179,17692401,17391061,17373876,17059388,16136012,16113565,16054015,15894523,15187412,14702039,14527672,12871575,12700100,12677009,12591177,12569180,12477932,12137746,12080061,11857741,11802774,11707427,11517297,11516173,11389728,10988299,10985965,10759854,10448104,9733056,9013800,5953194,3898693,20592285,15231748,18713752,19071192,19578876,20150869 2302393,2306436,2314919,2314923,2311543,1582109,2314920,2314921,2311542,2314922,2314924,1581849,1581864 4012 NM_005575,NM_175920,AC008850,AC008865,AJ131023,AJ131025,CH471084,AB208883,AK096804,AK314226,BC028692,BC111718,BC113117,BG622952,BQ923659,D50810,U62768,U62769 NP_005566,NP_787116,CAB61646,CAB94753,EAW96084,BAD92120,BAG36898,BAA09436,AAB66672,AAB66673,Q9UIQ6,AAI60010 Hs.527199,Hs.656905 CAP|IRAP|P-LAP|PLAP AT (4) receptor|aminopeptidase vp165|angiotensin IV receptor|cystinyl aminopeptidase|insulin-regulated aminopeptidase|insulin-regulated membrane aminopeptidase|insulin-responsive aminopeptidase|leucyl-cystinyl aminopeptidase|otase|oxytocinase|placental leucine aminopeptidase|vasopressinase protein-coding 1317771 LNX1 ligand of numb-protein X 1 This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq] 1580863 16002321,16189514,16713569,18029348,19132087,18940473,17936276,17504929,16832352,16344560,16122940,15489334,15367597,15010864,14702039,12975309,12477932,12468544,11922143,11782429,11521506,9535908,20379614,19701800 84708 NM_032622,NM_001126328,AC058822,AC095040,CH471057,AF237782,AK056823,AK294611,AY358326,BC022983,BC034737,BC094772,CR598037,DA154083,DA625539,DA854815,DA874715 NP_116011,NP_001119800,AAY41000,EAX05450,EAX05451,AAK15039,BAB71291,BAG57796,AAQ88692,AAH22983,AAH34737,Q8TBB1,ABM84910 Hs.518760 LNX|MPDZ|PDZRN2 E3 ubiquitin-protein ligase LNX|PDZ domain-containing ring finger protein 2|ligand of numb-protein x|multi-PDZ-domain-containing protein, E3 ubiquitin-protein ligase LNX|numb-binding protein 1 protein-coding 1317872 LNX2 ligand of numb-protein X 2 1580863 19549727,12477932,11922143,14702039,16344560,15489334,15057823,11782429 222484 NM_153371,AL136439,AL138699,CH471075,AK022995,AK095319,AK313394,BC036755,DB220129,DN990012 NP_699202,CAH73446,EAX08413,EAX08414,BAG36192,AAH36755,Q8N448 Hs.132359 FLJ12933|FLJ23932|FLJ38000|MGC46315|PDZRN1 PDZ domain containing ring finger 1|PDZ domain-containing RING finger protein 1|ligand of Numb protein X 2|numb-binding protein 2 protein-coding 1606475 LOC113386 similar to envelope protein 8889548,14702039,12477932 113386 Q6ZRD3,Q96A10 NM_138781,AC010642,AC020915,CH471135,AK054868,AK126673,AK128311,BC010118,BC011670,BM680245 NP_620136,EAW72571,BAC86638,BAC87378,AAH11670,Q6ZRD3,Q96A10 Hs.435404 FLJ44718|FLJ46452 protein-coding 2303664 LOC126536 hypothetical LOC126536 12477932,11441184 126536 NR_026828,AC004790,AI184190,AK128240,BC043535,BC117476,BC128560,BC144048,CR749400 BAC87348,Q6ZRG2 Hs.131824 DKFZp434N1114|DKFZp686O2439 miscrna 1604236 LOC136242 Peptidase S1 domain-containing protein LOC136242 14702039,12690205,12477932 136242 NM_001008270,AC093638,AX247864,AX318279,CH236950,CH471070,AK097648,AK172866,BC137353,BC137354,BC144604,BC144605,AA628371,NM_001171951 NP_001008271,CAD19358,CAC88648,EAL24014,EAW83985,EAW83986,EAW83987,AAI37354,AAI37355,AAI44606,A4D1T9,NP_001165422 Hs.98947 TRYX2 OTTHUMP00000211634|Peptidase S1 domain-containing protein LOC136242|probable inactive serine protease 37|probable inactive trypsin-X2 protein-coding 2304378 LOC146336 hypothetical LOC146336 14702039,12477932 146336 NR_027242,AC009041,CH471112,AK056814,AW291498,BC068093,BC084558 EAW85688,EAW85689,BAB71289,Q96MJ9 Hs.250557 FLJ32252 miscrna 1604522 LOC147804 tropomyosin 3 pseudogene 14702039,12477932 147804 NR_003148,AC022137,AK094777,BC047783,BC061910,BX647962,CR610971 Hs.433293 MGC71022 pseudo 2298829 LOC149134 hypothetical LOC149134 14702039,12477932 149134 NR_015422,AL591848,CH471148,AK022825,AK125177,BC101243,BC101244,BC101245,BC101246 EAW77164,BAC86072,Q6ZUZ4 Hs.720494 MGC120210|MGC120211|MGC120212|MGC120213 miscrna 1606703 LOC149620 CHIA-like pseudogene 17720922,19442228,12477932 149620 NR_003928,AL513202,CH471122,BC031662 EAW56483,EAW56484 RP11-165H20.1 pseudo 1605866 LOC149950 hypothetical LOC149950 12477932 149950 NR_034152,BC130464,AL133343,BC111383,BC130462 AAI30463,AAI30465,Q5W150,CAH73560,AAI11384 Hs.516980 MGC163334|MGC163336 miscrna 2303661 LOC150622 hypothetical LOC150622 16344560,14702039,12477932 150622 NR_026832,AC073479,AC079770,CH471053,AK055156,AK091363,AK124750,AL713643,BC093858,BX648932,DA139711 AAX93109,EAX01046,BAB70863,CAH10597,Q96NM1 Hs.560891 DKFZp761K2322|MGC120893 miscrna 2304400 LOC151009 hypothetical LOC151009 16344560,15342556,14702039,12477932 151009 NR_027244,AC112229,CH878615,AI699847,AK095678,BC101449,BC101450,BC101451,BC113052,BP341570,CR749351,DB205082 EAW50645,BAC04604,CAH18204,Q68DL6 Hs.516403,Hs.643369 DKFZp686K04236|FLJ38359 miscrna 1602293 LOC151534 hypothetical LOC151534 14702039,12477932,11181995 151534 NR_024606,AC005041,CH471053,AK096725,AK125271,BC009264,BC101224,BC101225,BC101226,BC101227 EAW99634,EAW99635 Hs.516124 MGC120166 miscrna 1352873 LOC1518 cathepsin L1 pseudogene 7713509,15164054,16344560 1518 AL772337,L25629,DA786334,NR_033405 Hs.726015 pseudo 2291780 LOC152217 hypothetical LOC152217 14702039,12477932 152217 NR_024388,AC011322,CH471191,AK123020,AL832915,BC000257,BC007882,BC062368 EAW53619,CAH10618,Q69YL0 Hs.118820 DKFZp762I1415|FLJ41024|MGC71256 miscrna 1605861 LOC152586 similar to RIKEN cDNA 4933434I20 16773575,15815621,12477932 152586 XM_001725473,XM_001720199,XM_001720248,AC093671,BC041818 XP_001725525,XP_001720251,XP_001720300,A6NG13 MGC43429 glycosyltransferase 54 domain-containing protein protein-coding 1601716 LOC153328 mitochondrial carrier protein-like 15322095,19303656,16344560,12477932,19773279,20877624 153328 NM_145282,AC011427,CH471062,AI733049,AK126812,BC025747,BG700532,DA137264 NP_660325,EAW62205,EAW62206,EAW62207,BAC86705,AAH25747,Q6ZT89 Hs.412418,Hs.720329 HDMCP HCC-down-regulated mitochondrial carrier protein|mitochondrial carrier protein-like|solute carrier family 25 member 48 protein-coding 2292117 LOC153684 hypothetical LOC153684 14702039,12477932 153684 NR_015447,AC025171,AK002146,AK123995,BC101382,BC101383,BC101385,BC101384 BAC85747,Q6ZVW3 Hs.259625 MGC120598 miscrna 4108202 LOC154872 hypothetical protein LOC154872 12477932 154872 AC004925,BC130600,BC130604,CH236947,CH471070,NM_001024603 EAL24324,EAW83614,NP_001019774 Hs.444163 hypothetical protein LOC154872 protein-coding 1604224 LOC158381 ATPase, Class I, type 8B family pseudogene 12477932,19657017,20210993 158381 NR_003582,NR_003581,AK310278,AL133476,AL160274,AL592145,CH471071,BC031276,BC035229,BC047452,BC130448,BC130450 EAW58379,EAW58380,EAW58381,EAW58382 Hs.575661 FetA pseudo 2303488 LOC158572 hypothetical LOC158572 16344560,14702039,12477932 158572 NR_026742,AF238380,CH471180,AK056746,BC093943,BC093945,BI086725,BX106362,DA687298 EAW89931,BAG51801 Hs.408191 miscrna 2303894 LOC158696 hypothetical LOC158696 16344560,14702039,12477932 158696 NR_026935,AL357123,CH471150,AK055234,AK055382,BC105719,BC105725,BC105726,BC105727,BC139831,DA392242 EAW88443,BAB70883,BAB70911,Q969H1 Hs.558664 FLJ30672 miscrna 1602424 LOC196913 hypothetical protein LOC196913 196913 NM_001014830,AL109758,CH471078,AF390030 NP_001014830,EAW65733,EAW65734,AAL58840,Q8WXQ3 Hs.406934 putative uncharacterized protein C14orf183 protein-coding 1603883 LOC200030 neuroblastoma breakpoint family, member 11-like 16079250,14702039,7700633,12477932 200030 NM_183372,AF379606,AL049742,AL356004,AF419617,AI865471,AK054850,BI552657,BX648497,CR600619,BC136292 NP_899228,AAO15406,CAI21822,CAI17086,Q8IX88,AAI36293 Hs.515947,Hs.676059,Hs.707893 OTTHUMP00000213003|OTTHUMP00000213005|hypothetical protein LOC200030|neuroblastoma breakpoint family, member 11 protein-coding 4108223 LOC200261 hypothetical LOC200261 12477932,16344560 200261 AF258576,AL118508,BC117361,CA748604,CH471133,DA864592,NR_034149 AAG23779,AAI17362,EAX10167,Q17RD9,Q8WY72 Hs.352228 miscrna 1606684 LOC200383 similar to Dynein heavy chain at 16F 12477932,11214970 200383 AB290165,AC010087,AC098975,AB051484,AK027182,AL512706,BC015442,BC117259 BAG06719,AAX93108,AAX93115,BAB21788,BAB15685,CAC21651,AAH15442,AAI17260,Q9C0G6 Hs.249972 KIAA1697 protein-coding 1602174 LOC220594 TL132 protein 12477932,11997339,19615732 220594 NR_003554,AC107983,AJ012755,AK124785,AK308293,BC075826,BC126273 CAA10171 Hs.234573,Hs.462475 FLJ98241 pseudo 1604504 LOC220686 hypothetical protein LOC220686 16189514,12477932,12107411,7566098 220686 Q6ZT68,Q8WUK7 NM_199283,AP000557,AA300351,AA425488,AK126860,BC020225,BQ638971,BX407261,BX452846 NP_954977,BAC86726,AAH20225,Q6ZT68,Q8WUK7 Hs.448225 protein-coding 2303886 LOC221442 adenylate cyclase 10 pseudogene 12477932 221442 NR_026938,AL031778,AL133404,AI243114,AK126092,AK128294,AL833650,BC126399,BX537595,BX648193 BAC87372 Hs.374076 FLJ46432 pseudo 2290505 LOC283174 hypothetical LOC283174 12477932 283174 NR_024344,AP001979,CH471065,AK123849,AL133591,BC101691,BC104851,BC106032,BX641055 EAW67813,BAC85707,CAH10550,Q6AWC8 Hs.504370 MGC117185|MGC126740 miscrna 1603520 LOC283392 hypothetical LOC283392 16344560,14702039,12477932 283392 DA139014,DR005853,NR_026837,NR_026836,AC087886,AA868510,AK095156,BC040230,BC093901,BC093903,DA024500 BAG52994 Hs.199814,Hs.363603 miscrna 2304159 LOC283685 golgi autoantigen, golgin subfamily a-like 14702039,12477932 283685 AC100756,CH471151,AK093463,AK097414,BC129820,BC129821,AC073446,XM_002343322 EAW57606,EAW57607,BAC04173,AAI29821,AAI29822,Q8N9W4,XP_002343363 CT105|FLJ36144|MGC149275 Golgin subfamily A member 6-like protein 2|cancer/testis antigen 105|golgi autoantigen, golgin subfamily a, 6-like 2|golgi autoantigen, golgin subfamily a-like|golgin A6 family-like 2|golgin subfamily A member 6-like protein 2 protein-coding 1605829 LOC283874 hypothetical protein LOC283874 14702039,12477932 283874 Q6ZMS2,Q9NX77 NM_001012731,AC092117,AC141586,AK000400,AK091794,AK095440,AK097014,AK097909,AK131509,AX747190,BC043252,BX335435 NP_001012749,BAA91140,BAD18653,Q6ZMS2,Q9NX77 Hs.647398 FLJ20393 protein-coding 1605252 LOC284009 hypothetical protein LOC284009 14702039,12477932 284009 NR_028335,AC006435,CH471108,AK093990,BC093711,BC112034 EAW90540,AAH93711,AAI12035,Q4G0H6 Hs.632244 MGC138239 miscrna 1604711 LOC284297 hypothetical LOC284297 14702039,12477932,19535143,16344560 284297 NG_027671,NM_001144950,AC008735,AF086519,AK092577,BC130538,BC130540,EU699476,EU699477,DA008417,NM_001195267 NP_001138422,BAC03917,AAI30539,AAI30541,A1L4H1,Q8NAJ5,ACJ02751,ACJ02752,NP_001182196 Hs.554182 scavenger receptor cysteine-rich glycoprotein protein-coding 4108149 LOC284751 hypothetical LOC284751 12477932,14702039 284751 AK090605,AL354889,BC093937,BC093939,NR_034124 AAH93937,AAH93939,Q4G0G3 Hs.282325 miscrna 1603345 LOC284757 hypothetical protein LOC284757 14702039 284757 Q6ZRE1 AK128288,NM_001004305,AL035070,AL121918,AK092805 BAC87369,Q6ZRE1,NP_001004305 Hs.534781,Hs.656468 FLJ46426 protein-coding 2303842 LOC284805 hypothetical LOC284805 16344560,14702039,12477932,8889548,20376170 284805 BC105014,BC105042,BU736724,DA522519,DB134998,DB160076,CH471077,CR383701,AK091025,BM662904,GU931819,GU931820,NM_182584 Q8NBC4,EAW76366,BAC03569,ADF32072,ADF32073,CAX14979,NP_872390 Hs.353262 FLJ33706 alugen protein-coding 2303841 LOC284837 hypothetical LOC284837 14702039,12477932 284837 NR_026961,AP001053,AK093410,AK128598,BC031911,BC034348,BC111558 BAC87522,AAH34348,Q6ZR03,Q8N4G5 Hs.592159 MGC133248 miscrna 1603250 LOC284861 hypothetical gene supported by BC039313 12477932 284861 XM_001715190,XM_001715905,AP000550,AK128837,BC039313 XP_001715242,XP_001715957,Q6ZQP7 Hs.645542 protein-coding 1603157 LOC284912 hypothetical gene supported by BC001801 12477932 284912 NM_203375,AL049747,CH471095,BC001801,BG471420 NP_976309,EAW60068,AAH01801,Q9BUY1 Hs.306978 MGC3170 protein-coding 1606112 LOC285033 hypothetical protein LOC285033 14702039,12477932 285033 NM_001037228,AC012307,CH471207,AK057419,BC101730,BC101732,CR619653 AAI01733,NP_001032305,EAW71380,EAW71381,AAI01731,Q3KRF4 Hs.58648 MGC126779|MGC126781 hypothetical protein LOC285033 protein-coding 1606111 LOC285074 anaphase promoting complex subunit 1 pseudogene 12477932,14702039 285074 NR_026846,AC092651,AC125232,AK057663,BC069048,BC132791,BC132793,BM454994,BX353812 AAH69048 Hs.424184 pseudo 1642829 LOC285299 FSHD region gene 2 family, member C-like 16641997,15520407 285299 AL592170,XM_003119203,XM_003119204 XP_003119251,XP_003119252 FRG2C FSHD region gene 2 family, member C-like protein-coding 2303831 LOC285456 hypothetical LOC285456 14702039,12477932 285456 NR_026968,AC084209,AK094992,AK298931,BC118631 BAC04469,BAG61034,Q8N9D8 Hs.683863 FLJ37673 miscrna 2305921 LOC285696 hypothetical LOC285696 14702039,12477932 285696 NR_027253,AC026790,AC091878,CH471102,AK091366,AK125192,BC093861,BC093887 EAX08014,BAC03647,BAG54162,Q8NB94 Hs.646924 FLJ34047|FLJ43202 miscrna 1604176 LOC285735 hypothetical LOC285735 12477932 285735 NR_026969,AL591115,CH471051,BC039371,BC101702,BC101704,BI460768 EAW48007 Hs.407549 MGC126751|MGC126753 miscrna 1601921 LOC285766 hypothetical protein LOC285766 14702039 285766 AK097546 Hs.657946 miscrna 2303895 LOC285780 hypothetical LOC285780 16344560,14702039,12477932 285780 NR_026970,AL031123,AL133326,AL137181,AL162719,AL512305,AK091027,BC031936,DA148042,CH471087 EAW55188,EAW55189,EAW55190,BAC03570,Q8NBC3,EAW55187 Hs.655737 FLJ33708|LY86-AS|LY86AS miscrna 2303893 LOC285830 hypothetical LOC285830 14702039,8889548,19851445 285830 NR_026973,NR_026972,AL645939,AL669813,AL844851,BX005428,BX927182,BX927250,CH471081,CR753818,CR788234,AA868186,AK092748,AL832418,BM726335 EAX03228,CAH10612,Q69YQ6 Hs.646985 FLJ35429 miscrna 1605544 LOC286526 Ras-like GTPase-like 15772651,15489334,12477932,12076535 286526 P0C0E4 NM_001031834,Z95624,BC101169,BC101170,BC101171,BC101172 NP_001027004,CAB09136,AAI01170,AAI01171,AAI01172,AAI01173,P0C0E4 Hs.449517 MGC119958|MGC119959|MGC119960|MGC119961|RAR2 protein-coding 4107890 LOC338797 hypothetical LOC338797 12477932,20400778 338797 XR_109112,XR_111362,XR_114636,AC140118,AK098523,BC093897,BC093899 AAH93897,AAH93899,Q4G0G9 Hs.592007 miscrna 2303861 LOC339524 hypothetical LOC339524 16344560,12477932,8889548 339524 NR_026989,NR_026988,NR_026985,NR_026986,NR_026987,AC093155,AL139139,CH471097,AK123670,AL833352,BC030523,BC041867,BC126240,BC132861,BI818944,BM679066,BM722117,CR604856,CR622032,DA398164,DA981741,DB100426,DB462107 EAW73175,BAC85673,AAI26241,Q6ZW34 Hs.306423 MGC161518 miscrna 1603840 LOC348262 hypothetical protein LOC348262 12477932 348262 NM_207368,NM_001093767,AC145207,CH471099,AK000852,AK125584,BC017108,BC019318,BC041068,BC063557,BC094876,BC111795,BX649156,AC174470 NP_997251,NP_001087236,EAW89687,EAW89688,BAC86211,C9JLW8 Hs.514632 DKFZp686A17165|MGC133184 hypothetical protein LOC348262 protein-coding 1605802 LOC348840 hypothetical LOC348840 12477932 348840 NR_003291,AC073135,CH471252,AK125940,BC042518,BC053879 EAW92257,EAW92258 Hs.512227 pseudo 1602269 LOC349114 hypothetical LOC349114 16344560,14702039,12477932,19019082 349114 NR_026999,AC004837,AC004987,CH236951,AI304809,AK097404,BC038571,BC053841,DA726117 BAC05037,Q8N836 Hs.726407,Hs.414183 miscrna 2305665 LOC375190 hypothetical protein LOC375190 17207965,15146197,14702039,12477932,8889548 375190 AC008073,NM_001145710,CH471053,BC029459,BM969566,CN395744,CR597946 ADQ33111,NP_001139182,EAX00757,P0C875 Hs.710370 FLJ30851 OTTHUMP00000200733|OTTHUMP00000200734|hypothetical protein LOC375190 protein-coding 1606382 LOC387646 leucine rich repeat containing 37, member A family pseudogene 387646 AL160291,CH471072,AK126872,NR_003525 EAW86057,BAC86731,Q6ZT63 Hs.631829 FLJ44924 pseudo 1604923 LOC388152 hypothetical LOC388152 12477932 388152 NR_027001,AC136698,AK074778,AK307326,AK309056,AK311265,AW205478,BC054509,BC071951,BC096759,BG248101,BU931675 BAC11203,Q8NCE8 Hs.405809,Hs.546614 FLJ90297|MGC60197 miscrna 1602265 LOC388199 hypothetical LOC388199 11157797 388199 NM_001013638,AE006465,AL023882,AL031033 NP_001013660,AAK61258,Q96S07,AAI56146,AAI56985 Hs.528461 gs64 proline-rich protein 25 protein-coding 2304639 LOC388387 hypothetical LOC388387 14702039,12477932 388387 NR_027254,AC016889,CH471152,AK055784,AK298293,BC122867,BC122868,DC361857 EAW60899,EAW60900,BAB71012,BAG60551,Q96N93 Hs.632257 FLJ31222|MGC148166 miscrna 2304510 LOC388428 hypothetical LOC388428 12477932 388428 NR_027255,AC027601,AC115099,CH471099,AK126811,BC140737,BC171777 EAW89630,BAC86704,Q6ZT90 Hs.591202 FLJ44861 miscrna 1601686 LOC388692 hypothetical LOC388692 14702039,12477932 388692 NR_027002,AL356957,AK023642,AK123662,AK124550,BC023516,BC082253,BC141801 BAC85672,BAC85881,Q6ZVI0,Q6ZW35 Hs.728022,Hs.271249,Hs.454790 FLJ13580|FLJ42559 miscrna 1603239 LOC388882 hypothetical LOC388882 12477932 388882 Q8N402 NM_001006606,AP000344,AP000345,BC036910 NP_001006607,AAH36910,Q8N402 Hs.542766 protein-coding 1603150 LOC388910 hypothetical LOC388910 12477932 388910 BU585030,NR_028409,NR_028410,NR_028411,AL022333,BC144506,BC144508 CAI42832,Q5JZ73 Hs.332685 miscrna 1603149 LOC388915 hypothetical LOC388915 388915 Q5R3S2 NM_001010902,CH471138,Z78421 NP_001010902,EAW73458,CAI18780,Q5R3S2 Hs.405993 protein-coding 1603147 LOC388965 FUN14 domain containing 2 pseudogene 12477932 388965 NR_003663,AC097458,CH471053,BC067852 EAW99560 Hs.725656 MGC39809 pseudo 1602624 LOC389286 similar to FKSG62 389286 Q9BXE7,Q9BZ55,Q9BZ61 NM_001018022,AL161656,AF338197 NP_001018022,AAK08113,Q9BXE7,Q9BZ55,Q9BZ61 FKSG69 protein-coding 1602264 LOC389458 hypothetical LOC389458 12477932,17207965 389458 NR_015343,AC092032,CH471144,AA292828,AA398766,AI015600,BC031661,CR745855 EAW87319,A6NC62,ADQ32827 Hs.720724 MGC35170 hypothetical gene supported by bc031661 miscrna 1602037 LOC389607 hypothetical gene supported by AK128318 389607 Q6ZRD0 NM_001013651,AC090691,AK128318 NP_001013673,BAC87382,Q6ZRD0 Hs.679027 protein-coding 2300993 LOC389634 hypothetical LOC389634 12477932 389634 BC044942,NR_024420,AC092745,AC092865,CH471116,CQ784036,AI656939,AK074886,AK124896,BC037255,BC073935 EAW88621,CAF86980,BAC11267,Q8NC93 Hs.434403,Hs.696467 miscrna 2290200 LOC389791 hypothetical LOC389791 14702039,12477932 389791 NR_024425,AL590708,CH471090,AK094537,BC132745,BC132747,BC141829,BC151210 EAW87747,Q8N1Y9 Hs.632678 miscrna 1601792 LOC389832 similar to chromosome 2 open reading frame 27 389832 NM_001013654,XM_001133346,CR382287,AK124122 Q6ZVT1,NP_001013676,XP_001133346,BAC85780 Hs.613108 protein-coding 1601791 LOC389834 ankyrin repeat domain 57 pseudogene 12477932 389834 NR_027420,AL354822,AK123403,BC137367 BAC85607,AAI37368,Q6ZW97 Hs.720653 pseudo 1603469 LOC389936 similar to proline-rich proteoglycan 2 389936 Q6ZMV0 NM_001013656,AL355591,AK131480 NP_001013678,BAD18625,Q6ZMV0 Hs.532673 protein-coding 1603330 LOC391343 similar to CG2839-PA 391343 NM_001013662,AC113607,AK128042 NP_001013684 Hs.719768 protein-coding 1601911 LOC392395 similar to hemicentin 392395 NM_001013664,AL360004,AK128020 NP_001013686,BAC87234,Q6ZRS5 Hs.512559 protein-coding 2302188 LOC399744 hypothetical LOC399744 399744 NR_024497,AL133216,AK128746,AK293765,AK311605,BQ000710 BAC87596,BAG57183 Hs.497951 FLJ59853 miscrna 1604684 LOC399900 hypothetical gene supported by AK093779 14702039 399900 Q8N204 NM_001013667,AP003733,AK093779,BC132894,BC132896 NP_001013689,BAC04223,AAI32895,AAI32897,Q8N204 Hs.528437 protein-coding 1603329 LOC400464 similar to FLJ43276 protein 400464 Q6ZSI0 NM_001013670,XM_942476,AC090825,AK127420 NP_001013692,XP_947569,BAC86971,Q6ZSI0 Hs.187134 protein-coding 4140188 LOC400499 hypothetical protein LOC400499 400499 AC099489,AK126539,CH471112,XM_003118689,XM_003119653,XM_003120835 BAC86584,EAW85154,Q6ZTK2,XP_003118737,XP_003119701,XP_003120883 Hs.459937 hypothetical protein LOC400499 protein-coding 1606371 LOC400657 hypothetical LOC400657 12477932,16344560,14702039 400657 NR_024484,AC116904,AX877680,AK001853,BC036588,BC132930,BC132956,DA004415,DB148466 CAE89832,BAG50984 Hs.61508 FLJ10991 miscrna 2303655 LOC400696 lectin, galactoside-binding, soluble, 14-like 19497882,12477932 400696 NR_034156,AC005515,AK123499,BC118595,BC122559,BC128606,FJ613353,FJ613354 BAC85631,AAI18596,AAI22560,AAI28607,ACR09653,ACR09654,Q147W9,Q6ZW74 Hs.456377 LGALS17A eosinophil lysophospholipase-like|hypothetical protein LOC400696 pseudo 1606079 LOC400707 hypothetical gene supported by AK124070 400707 Q6ZVU4 NM_001013673,AC011484,AK124070,BC132839,BC132841 AAI32842,Q6ZVU4,NP_001013695,BAC85766,AAI32840 Hs.534777 protein-coding 1605786 LOC400804 hypothetical LOC400804 12477932,20400778 400804 NR_024236,AL445470,AK128488,BC140931 BAC87460,Q5VVS0 Hs.722626 C1orf140|FLJ46636|MGC176608 miscrna 1602798 LOC400831 hypothetical LOC400831 14702039,12477932 400831 NM_001009612,AL031665,AK092524,BC127730,BC127731,BC141955,BC141956,BC150532 NP_001009612,CAI21759,AAI27731,AAI27732,A1L168 Hs.148503 FLJ35205 hypothetical protein LOC400831 protein-coding 1602795 LOC400891 chromosome 14 open reading frame 166B pseudogene 12477932 400891 NR_027006,AC002472,CH471176,AK128646,BC028231,BC036220,BC140948,BC140950 EAX02907,BAC87547,Q6ZQY2 Hs.291198 pseudo 1602619 LOC400924 hypothetical gene supported by AK056895 14702039 400924 Q96MI5 NM_001013676,AC003071,CH471095,AK056895,CR608861 NP_001013698,EAW59856,BAB71303,Q96MI5 Hs.534783 protein-coding 2304161 LOC400931 hypothetical LOC400931 14702039,8889548 400931 NR_027033,AL049853,AL121672,CH471138,AK023424,AK130875,BU732454,CR602657 EAW73398,EAW73399,BAC85451,Q6ZNQ0 Hs.235838 FLJ27365 miscrna 1602618 LOC400940 hypothetical LOC400940 16344560,14702039 400940 NR_026833,AC073479,AK095714,AK123041,CR607682,DA745281 BAC85522,Q6ZWI0 Hs.378814 FLJ38395 miscrna 1602616 LOC400986 protein immuno-reactive with anti-PTH polyclonal antibodies 14702039,8608414 400986 XM_001717763,XM_003119863,AC013272,AC073995,AK123626,AK124101,AK302433,AL832836,AL832977,U28831,XM_003118857,XM_003119864,XM_003121067 XP_003119911,XP_001717815,BAG63735,CAI46156,CAH56324,AAB02177,Q5JPF3,XP_003118905,XP_003119912,XP_003121115 Hs.646318 FLJ42107|HEM1 OTTHUMP00000207419|ankyrin repeat domain-containing protein 36C|protein immuno-reactive with anti-PTH polyclonal antibodies protein-coding 1602397 LOC401052 hypothetical LOC401052 14702039 401052 NM_001008737,AC022007,AX882003,CH471055,AK022260,CR614358 NP_001008737,CAE91429,EAW64048,BAG51069 Hs.662766 hypothetical protein LOC401052 protein-coding 1605187 LOC401072 hypothetical gene supported by AK125942 401072 Q6ZU73 NM_001013679,AC104633,AK125942 NP_001013701,BAC86353,Q6ZU73 Hs.631904 protein-coding 1604907 LOC401152 HCV F-transactivated protein 1 17207965,16344560,16174453,15146197,12477932,8889548,20332099 401152 NM_001001701,AC092656,CH471229,AF075061,AK024537,AK025703,AY605045,BC017399,BU739784,CN361054,CR590172,CR597270,CR605135,CR610189,CR616256,DA353224,NM_001170330 ADQ32691,NP_001001701,EAW73665,AAT35812,AAH17399,Q8WVX3,NP_001163801 Hs.173705 HCV F-transactivated protein 1|OTTHUMP00000220063|hypothetical protein LOC401152 protein-coding 1602154 LOC401233 similar to HIV TAT specific factor 1; cofactor required for Tat activation of HIV-1 transcription 12477932 401233 NR_033884,AL133351,AK128391,BX648511 BAC87416,Q6ZR97 Hs.441039 pseudo 1602148 LOC401286 hypothetical gene supported by AK127120 401286 Q6ZSV7 NM_001023565,AL732359,CH471051,AK123853,AK127120 BAC85709,NP_001018859,EAW47492,BAC86839,Q6ZSV7 Hs.487182 protein-coding 1604679 LOC401296 hypothetical protein LOC401296 401296 Q6ZUE6 NM_001024677,AC074389,CH236953,AK125766,BC132760 NP_001019848,EAL23946,BAC86279,AAI32761,Q6ZUE6 Hs.520617 protein-coding 1604427 LOC401351 hypothetical gene supported by BC040831 12477932 401351 XM_926596,XM_379843,XM_935479,XM_935792,XM_938438,XM_943672,AC006455,AK128835,BC040831 XP_931689,XP_379843,XP_940572,XP_940885,XP_943531,XP_948765,BAC87635,Q6ZQP9 Hs.599397 protein-coding 1602027 LOC401357 hypothetical LOC401357 12477932 401357 XR_040242,XR_040241,XR_040240,NR_027050,AC118758,AK125790,AK128114,BC137417 BAC87281,AAI37418,Q6ZRM9 Hs.457696 miscrna 1602025 LOC401398 hypothetical protein LOC401398 14702039 401398 Q8NBE4 NM_001023566,AC019155,AC073322,AC096665,CH236947,AK090675,BX648695 NP_001018860,EAL24323,BAC03501,Q8NBE4 Hs.658551 protein-coding 1601908 LOC401410 hypothetical LOC401410 401410 NM_001008742,AC005692,CH236950,BX648692 NP_001008742,EAL24021 Hs.531393 protein-coding 1604142 LOC401431 hypothetical LOC401431 16344560,12690205,12477932 401431 NR_027040,AACC02000041,AC004877,AC093458,CH471146,AW452405,BC023225,BC028735,DA083383 EAL24438,EAW80024 Hs.556998 miscrna 1601906 LOC401467 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like pseudogene 401467 NG_009315,AF279874,AC232323 pseudo 1601787 LOC401589 hypothetical protein LOC401589 14702039 401589 Q8N8P6 NM_001013687,BX322790,AK096379 NP_001013709,CAH70175,BAC04772,Q8N8P6 Hs.553803 protein-coding 1602614 LOC439985 hypothetical gene supported by AK125693 439985 Q6ZUH8 NM_001013696,AC010997,AK125693 NP_001013718,BAC86247,Q6ZUH8 Hs.621975 protein-coding 1605173 LOC440087 Uncharacterized protein LOC440087 15489334,14702039,12477932,8889548 440087 NM_001013698,AC007655,CH471094,AK092637,BC132752,BC132754,BM696674,BU735185 NP_001013720,EAW96331,BAC03930,AAI32753,AAI32755,A2RU48,ADR82872 Hs.220931 Uncharacterized protein LOC440087|hypothetical protein LOC440087 protein-coding 1605172 LOC440093 histone H3-like 16541075,15489334,12477932 440093 NM_001013699,AC023050,CH471116,AI016942,BC066906 NP_001013721,EAW88541,AAH66906,Q6NXT2 Hs.448697 histone H3-like|histone H3.3C protein-coding 1604900 LOC440131 similar to bA90M5.1 (novel protein) 12477932 440131 AI026706,BX118434,NR_033889,AL139188,CH471075,BC132810,BC132836 CAI17022,EAX08450,Q5TAE0 Hs.132371 miscrna 1604897 LOC440157 hypothetical gene supported by AK096951; BC066547 12477932 440157 Q6NYL1 NM_001013701,AL589743,BC066547 NP_001013723,AAH66547,Q6NYL1 Hs.659013 protein-coding 1602146 LOC440248 hect domain and RLD 2 pseudogene 15851553,15146197,14702039,12477932,10737800,10332034,9205841 440248 AK293845,NR_036443,AC055876,AC135348,AF129930,AK056876,AK293512,AL832775,AW901310,BC047911,BC128548,BE699021,BI007057,BM464322 BAG57243,BAG56995 Hs.531509 FLJ59185 pseudo 1602143 LOC440295 hypothetical protein LOC440295 12477932 440295 NM_198181,AC135995,AK128268,BC041854,CR936812 NP_937824,AAH41854,A6NEM1 Hs.630181 Golgin subfamily A member 6-like protein 9|golgi autoantigen, golgin subfamily a, 6-like 9|golgi autoantigen, golgin subfamily a, 6D-like protein-coding 1604420 LOC440313 hypothetical gene supported by AK127131 440313 Q6ZSV3 AC087762,AK127131,NM_001013704 NP_001013726,BAC86843,Q6ZSV3 Hs.534903 protein-coding 1603803 LOC440570 LOC440570 12477932 440570 A0AVG0,Q6ZUF8 NM_001013708,BX284668,AK125737,BC126340 NP_001013730,BAC86267,AAI26341,A0AVG0,Q6ZUF8 Hs.308060 protein-coding 1606858 LOC440742 hypothetical gene supported by AK124614 440742 Q6ZVG0 NM_001013710,AL590483,AK124614 NP_001013732,BAC85901,Q6ZVG0 Hs.629644 protein-coding 1606362 LOC440905 hypothetical LOC440905 12477932 440905 NR_026758,AC018865,AC079776,CH471103,AK125921,BC132694,BC132696,BC144438 EAW95363,BAC86344,AAI44439,Q6ZU82 Hs.469918 miscrna 1606360 LOC440925 hypothetical LOC440925 12477932 440925 NR_027433,AC007405,AK123485,BC132926,BC132928 BAC85625,Q6ZW80 Hs.668461 miscrna 1603140 LOC440957 similar to CG32736-PA 14702039,12477932,8889548 440957 AC112215,CH471055,AK095910,BC017996,BG031013,BM674004,NM_001124767 NP_001118239,EAW65238,AAH17996,Q8WVI0 Hs.660577 OTTHUMP00000213340|hypothetical protein LOC440957|small nucleolar rna host gene (non-protein coding) 8 protein-coding 1606065 LOC441046 glucuronidase, beta pseudogene 19404257,12477932 441046 NR_003675,AC139713,BC025996 Hs.135705 GYPELOC441046 pseudo 1602945 LOC441070 similar to FLJ44076 protein 441070 Q6ZWE7 NM_001013715,AC116331,AK123203 NP_001013737,BAC85556,Q6ZWE7 Hs.121853 protein-coding 1602793 LOC441120 similar to LOC285679 protein 14702039 441120 Q8NA96 NM_001013718,AC136604,AK093042 NP_001013740,BAC04030,Q8NA96 Hs.631949 protein-coding 1602791 LOC441177 hypothetical LOC441177 14702039,12477932,20800603 441177 NR_027284,AL132661,AK094116,BC110806 BAC04291,Q8N9P0 Hs.708964 MGC131672 miscrna 1605482 LOC441208 zinc and ring finger 2 pseudogene 14702039,12477932 441208 NR_003502,AC018645,AK094370,BC126382,BC126384 BAC04341 Hs.510645,Hs.535029 pseudo 1605480 LOC441257 hypothetical LOC441257 12477932 441257 Q2TAP3,Q86WY7 BC110795,NM_001023562,AC005488,BC047594 AAI10796,Q2TAP3,Q86WY7,NP_001018856,AAH47594 Hs.571275,Hs.645327 MGC131642 protein-coding 1602612 LOC441268 hypothetical gene supported by BC044942 441268 Q6ZUZ7 NM_001013725,AC079781,AK125166 NP_001013747,BAC86069,Q6ZUZ7 Hs.668620 protein-coding 1605478 LOC441294 similar to CTAGE6 12477932 441294 NM_001008747,AC073264,CH236959,BC146818 NP_001008747,EAL23792,AAI46819,AAI50315 Hs.450233 MGC167090 CTAGE6-like|cutaneous T-cell lymphoma-associated antigen 9|hypothetical protein LOC441294|protein cTAGE-9 protein-coding 1604889 LOC441476 hypothetical protein LOC441476 14702039,12477932 441476 NM_001004353,BX255925,CH471090,AK097565,BC033939,BC050094,BC132726,BC144308,BC144310,BC144311,BC144314,DB453255 NP_001004353,EAW88374,EAW88375,EAW88376,BAC05104,AAH33939,AAI32727,AAI44309,AAI44312,AAI44315,Q8N7X2,ADR82979 Hs.372640 FLJ40246 hypothetical protein LOC441476 protein-coding 1601679 LOC441956 similar to cDNA sequence BC021523 441956 NM_001013729,AL050303,AK125677 NP_001013751,BAC86242,Q6ZUI3 Hs.535148 protein-coding 1606294 LOC51035 SAPK substrate protein 1 17207965,10942595,15944415,15761153,15489334,15362974,14702039,12477932,17353931,12838346,19615732,20351172 51035 CR599375,CR603413,CR603968,CR621110,CR623424,CR626110,M68864,NM_015853,AP001458,CH471076,CQ834654,AK054832,BC000902,BC001372,BC032689,BC040129,CR590579,CR593998,AK297856,AK300542,AK303471,AK316012 ADQ33212,AAA36396,Q04323,Q05BV2,NP_056937,EAW74061,EAW74062,EAW74063,EAW74064,EAW74065,EAW74066,EAW74067,CAH05542,BAG51430,AAH00902,AAH01372,AAH32689,AAH40129,ACT64462,BAG60188,BAG62250,BAG64510,BAH14383 Hs.351296 2B28|SAKS1|UBXD10 SAPK substrate protein 1|UBA/UBX 33.3 kDa protein|UBX domain-containing protein 1 protein-coding 1349674 LOC54082 hypothetical LOC54082 10830953 54082 AJ003550,AJ003491,AJ003549 Hs.580950,Hs.647461 C21orf31 miscrna 1605155 LOC541469 hypothetical protein LOC541469 12477932 541469 BC025257,CR625148,NM_001013617,AC011479,CH471126,AK027130 BAB15669,AAH25257,NP_001013639,EAW56768 Hs.660510 protein-coding 1605154 LOC541473 FK506 binding protein 6, 36kDa pseudogene 12477932 541473 NR_003602,AC006014,AK310313,BC022013,BC067783,BC070189 Hs.645394 MGC88170 pseudo 1606057 LOC552891 hypothetical protein LOC552891 12477932,14702039,15164053,15489334,20967262,8889548 552891 NM_004125,AL135787,CH471105,BU675931 NP_004116,CAI12405,EAW59082,EAW59086,ABM85627,ABM82436 Hs.534196 DNAJC25-GNG10 protein|DNAJC25-GNG10 readthrough transcript protein-coding 1605150 LOC553158 PRR5-ARHGAP8 fusion The PRR5-ARHGAP8 mRNA is an infrequent naturally co-transcribed product of the neighboring PRR5 and ARHGAP8 genes. This rare transcript encodes a fusion protein which contains domains characteristic of a RhoGAP protein. The significance of this co-transcribed mRNA and the function of its protein product have not yet been determined. [provided by RefSeq] 12477932,10591208,15718101,19913121,20628086,20379614,20967262 553158 NM_181334,Z83838,Z93244,Z98743,AF195968,AW673723,BC132755,BC132757,BI488517 NP_851851,CAQ07747,CAQ07748,CAQ06715,CAQ06716,CAQ09258,AAK58136,AAI32756,AAI32758,ADR83179 Hs.102336,Hs.720401 ARHGAP8 OTTHUMP00000082599|OTTHUMP00000082600|OTTHUMP00000219408|PRR5-ARHGAP8 fusion|PRR5-ARHGAP8 fusion protein|Rho GTPase activating protein 8 protein-coding 1607022 LOC55908 hepatocellular carcinoma-associated gene TD26 12975309,12477932,15342556 55908 NM_018687,AC011472,CH471106,AF271350,AY358356,BC113823,BF511595,BP316755 NP_061157,EAW84185,EAW84186,AAF76204,AAQ88722,AAI13824,Q29RX7,Q6UXH0,AAI41564,AAI46553 Hs.534467 PRO1185|PVPA599 hepatocellular carcinoma-associated protein TD26 protein-coding 2292182 LOC63930 hypothetical LOC63930 12477932,11780052 63930 AK128329,AK310606,NR_033370,AL121673 Hs.640084 FLJ17648|FLJ46471 miscrna 1603422 LOC643406 hypothetical protein LOC643406 12477932 643406 AL121757,CH471133,AK125948,BC031676,NR_029405 EAX10417,EAX10418,EAX10419,EAX10420,BAC86356,AAH31676,Q6ZU70,Q8N5R8 Hs.431161 MGC35023 miscrna 3322123 LOC729299 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)-like 9847074 729299 AC005488,AC006995,NG_006447 pseudo 2304753 LOC729991-MEF2B LOC729991-MEF2B readthrough transcript This gene represents numerous read-through transcripts that span geneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on geneID:100271849. [provided by RefSeq] 19453261,16344560,16189514,15489334,15057824,14702039,12477932,11230166,20967262,20379614,1748287,1516833,19913121,20628086 4207 NM_005919,NR_027308,NR_027307,AC002126,AK301086,AK316328,BC126245,BC136457,BC171767,X63380,X68502 NP_005910,BAG62689,BAH14699,AAI26246,AAI36458,AAI71767,CAA44978,CAA48515 Hs.153629 MEF2B OTTHUMP00000206144|OTTHUMP00000206145|OTTHUMP00000206146|myocyte enhancer factor 2B protein-coding 1625094 LOC730092 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 15146197,12477932,9110174,8619474 730092 NR_003370,AC092375,AF001549,AF054994,AK126166,AK291749,AK309501,AL702574,BC006441,BC009198,BC068999,BC070157,BC112115,BC112117,BX101439,CN397262,BC143685 AAC27822,BAG54291,BAF84438,Q2M238 Hs.31290,Hs.348979 FLJ77916|FLJ99542|MGC138320|MGC138322 pseudo 2303684 LOC80054 hypothetical LOC80054 14702039,12477932 80054 NR_026887,AC008738,AK022417,AL522369,BC027959,BC113872,BC114482,CR602936 BAB14032 Hs.287521 FLJ12355 miscrna 1604793 LOC80154 hypothetical LOC80154 12477932,10746788,15156102,8439957 80154 NR_026811,AC135995,AF316855,AK026448,AK291684,AK307285,AK309420,AK309746,AK310769,BC007811,BC065260,BC072390,CR608659 AAK15476,BAB15487,BAF84373,Q9BXM8,Q9H5Y0 Hs.546614,Hs.454640,Hs.727817 AgSK1|FLJ17811|FLJ22795|FLJ99461 miscrna 1601954 LOC81691 exonuclease NEF-sp 11256614,16381901,16344560,15489336,14702039,12477932,11230166,11076863,10493829 81691 DB059505,NM_001199053,NM_030941,NM_001144924,AC004381,CH471228,AF332193,AK314458,AL136763,AL162035,BC007646,BC068503,CR621882,DB030041 NP_001185982,NP_112203,NP_001138396,AAC31668,EAW66838,EAW66839,EAW66840,EAW66841,AAK17192,BAG37066,CAB66697,CAB82386,AAH07646,AAH68503,Q96IC2,CAL37723 Hs.177926 DKFZp434J0315 putative RNA exonuclease NEF-sp protein-coding 2303682 LOC84856 hypothetical LOC84856 16341674,14702039,12477932 84856 NR_026827,AL391099,CH471160,AK024638,AK090789,AK092104,AK293138,BC007394,BI517331,BM738658,CK903828 EAW86555,BAC03807,BAG56686,Q8NAU0 Hs.55977 miscrna 2304155 LOC84931 hypothetical LOC84931 14702039,12477932 84931 NR_027181,AC073257,CH471103,AK027722,BC112205,BC113708 AAX93136,EAW95244,BAB55323,Q96K35 Hs.334519 FLJ14816|MGC138410 miscrna 1603288 LOC88523 CG016 14702039,8812419 88523 Q6ZV26,Q96KV2,Q9Y3H6 AK093514,AL049802,CR596312,U50529,NM_033111,AL137247,AL353665 CAB42563,Q6ZV26,Q96KV2,Q9Y3H6,NP_149102,CAI13193 Hs.507680 protein-coding 1605900 LOC91431 prematurely terminated mRNA decay factor-like 14702039 91431 NM_001099776,AC023886,AK090556,AK126054,AL137700,BX647594 Q6ZU11,NP_001093246,BAG52184,BAC86416,CAB70881 Hs.444338 protein-coding 2292120 LOC93622 hypothetical LOC93622 12477932 93622 NR_015433,AC093323,CH471131,AK026375,AK314832,BC006130,BC021542,BC026970,BC040997,BC066911,BC073972,CR606044,CR616401 EAW82385,BAG37352 Hs.6815 miscrna 2305709 LOC96610 BMS1 homolog, ribosome assembly protein (yeast) pseudogene This locus appears to be a transcribed pseudogene of the BMS1 homolog of yeast ribosome assembly protein on chromosome 10 that has arisen from duplication of the 3' half of the parent gene. Frameshifts and premature stop codons are present in this pseudogene compared to the parent gene. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. 9074928,16344560,14702039,12477932,11779832 96610 NR_027293,NG_000002,CH878729,D87003,D87018,AK090629,BC033148,BC133659,BX641141,DB021899,DB472458 EAW53962 Hs.449601 pseudo 1316927 LOH12CR1 loss of heterozygosity, 12, chromosomal region 1 16189514,15284860,12477932,11896457 118426 NM_058169,AC007619,AC007621,CH471094,CQ783014,AK075028,AY037865,AY037866,BC013668 NP_477517,EAW96257,EAW96258,EAW96259,EAW96260,CAF86221,BAC11360,AAK71328,AAK71329,AAH13668,Q969J3,ABM82704,ABM85888 Hs.720779 LOH1CR12 loss of heterozygosity 12 chromosomal region 1 protein protein-coding 1602607 LOH12CR2 loss of heterozygosity, 12, chromosomal region 2 15284860,11896457 503693 CH471094,AY037867,BE645784,NR_024061,AC007621 EAW96256,AAK71330,Q96QS4 Hs.67553 LOH2CR12 miscrna 1352245 LOH18CR1 loss of heterozygosity, 18, chromosomal region 1 9718349 23703 1347476 LOH19CR1 loss of heterozygosity, 19, chromosomal region 1 9241274 8378 1353466 LOH1CR1 loss of heterozygosity, 1, chromosomal region 1 8377 1347210 LOH3CR2A loss of heterozygosity, 3, chromosomal region 2, gene A 15489334,15474036,14702039,12918109,12477932,12452030,11780420,19591174 29931 AC087859,CH471055,AF086709,AK054898,BC009773,BC016278,NR_024065 EAW63939,AAD45398,Q9Y6C7 Hs.591661 ERR-10|ERR10|NAG-7|NAG7 miscrna 734453 LONP1 lon peptidase 1, mitochondrial This gene encodes a mitochondrial matrix protein in the Lon family of ATP-dependent proteases. A similar E. coli protein regulates gene expression by targeting specific regulatory proteins for degradation. This protein binds a specific sequence in the light and heavy chain promoters of the mitochondrial genome which are involved in regulation of DNA replication and transcription. [provided by RefSeq] 633879,1580724,1580863 20562859,9485316,12198491,17418790,18063578,18378094,18029348,18021745,15683722,15489334,14702039,12657466,12477932,12082077,8666383,8119403,7961901,14739292,8248235,17420247,18174225,17584658,19615732,20843780,20877624 633879,1580724 9361 NM_004793,AC011499,AF059296,AF059309,CH471139,AK056366,AK096433,AK096626,AK127867,AK298531,AK309720,AL096720,BC000235,BC109218,BC109219,BC139726,CR591602,CR603800,U02389,HQ204946,HQ204947,HQ204948,HQ204949,HQ204950,HQ204951,HQ204952,HQ204953,HQ204954,HQ204955,HQ204956,HQ204957,HQ204958,HQ204960,HQ204961,HQ204962,HQ204963,HQ204964,HQ204965,HQ204966,HQ204968,HQ204969,HQ204970,HQ204971,HQ204972,HQ204973,HQ204974,HQ204975,HQ204976,HQ204977,HQ204978,HQ204979,HQ204980,HQ204981,HQ204982,HQ204983,HQ204984,HQ204985 NP_004784,AAD24414,EAW69151,EAW69152,EAW69153,EAW69154,BAG51690,BAG53290,BAC04829,BAG54587,AAH00235,AAI09219,AAI39727,AAA61616,P36776,Q2VPA0,Q8N8K8,ABM83881,ABM87201,BAG60732,ADP90374,ADP90375,ADP90376,ADP90377,ADP90378,ADP90379,ADP90380,ADP90381,ADP90382,ADP90383,ADP90384,ADP90385,ADP90386,ADP90388,ADP90389,ADP90390,ADP90391,ADP90392,ADP90393,ADP90394,ADP90396,ADP90397,ADP90398,ADP90399,ADP90400,ADP90401,ADP90402,ADP90403,ADP90404,ADP90405,ADP90406,ADP90407,ADP90408,ADP90409,ADP90410,ADP90411,ADP90412,ADP90413 Hs.350265 LON|LONP|LonHS|MGC1498|PIM1|PRSS15|hLON Lon protease-like protein|hLON ATP-dependent protease|lon protease homolog, mitochondrial|mitochondrial ATP-dependent protease Lon|mitochondrial lon peptidase 1|mitochondrial lon protease-like protein|protease, serine, 15|serine protease 15 protein-coding 1605609 LONP2 lon peptidase 2, peroxisomal 18281296,14702039,14561759,12477932,15870080,19615732 83752 AK294779,AL834201,BC002916,BC004234,BC093910,BC093912,BC110434,BC143246,CR604191,CR619746,AC007600,AC023818,CH471092,AJ548761,AK027544,AK027666,AK074775,AK090452,AK127125,AK130091,AK172790,NM_031490 BAG57906,CAD38889,AAH02916,AAH04234,AAH93910,AAH93912,AAI10435,AAI43247,Q6ZMF9,Q86WA8,Q8NF29,Q9BU35,NP_113678,EAW82723,EAW82724,EAW82725,CAD68987,BAG51340,BAB55278,BAC11201,BAC03433,BAG54439,BAD18769 Hs.295923 LONP|LONPL|MGC4840 lon protease 2|lon protease homolog 2, peroxisomal|lon protease-like protein 2|peroxisomal LON protease like|peroxisomal Lon protease homolog 2 protein-coding 1605309 LONRF1 LON peptidase N-terminal domain and ring finger 1 18253036,15489334,14702039,12477932,19549727 91694 NM_152271,AC123777,CH471080,AA017498,AA284268,AI004802,AK074329,AK297266,AK300538,BC004538,BC106042,BC117381,BC117385,BQ718281,CR597701,CR598718 NP_689484,EAW63860,BAB85052,BAG59741,BAG62246,AAH04538,AAI17382,AAI17386,Q17RB8 Hs.180178 FLJ23749|RNF191 LON peptidase N-terminal domain and RING finger protein 1|RING finger protein 191 protein-coding 1604220 LONRF2 LON peptidase N-terminal domain and ring finger 2 19240061,15489334,14702039,12477932,19615732 164832 NM_198461,AC104782,CH471127,AK056373,AK094044,AK123836,AK124739,AK127206,AK128715,AL157505,BC101662,BC101664,BC143468,BC143471,BF436808,CR590043,DQ020495 NP_940863,EAX01846,EAX01847,EAX01848,EAX01849,BAC86883,AAI01663,AAI01665,AAI43469,AAY84832,Q1L5Z9 Hs.21380 FLJ45273|MGC126711|MGC126713|RNF192 LON peptidase N-terminal domain and RING finger protein 2|OTTHUMP00000203187|RING finger protein 192|neuroblastoma apoptosis-related protease protein-coding 1351493 LONRF3 LON peptidase N-terminal domain and ring finger 3 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq] 15772651,15761153,15489334,14702039,12477932,8744354 79836 NM_001031855,NM_024778,NG_012577,AL772284,CH471161,AK026265,AK091777,AK097641,AK290198,BC098283,BC099847,BC100671,BC103491 NP_001027026,NP_079054,CAI41519,CAI41520,EAW89885,EAW89886,EAW89887,EAW89888,BAB15419,BAC03744,BAG53499,BAF82887,AAH99847,AAI00672,AAI03492,Q496Y0,Q5JPN5 Hs.144266 FLJ22612|MGC119463|MGC119465|RNF127 LON peptidase N-terminal domain and RING finger protein 3|OTTHUMP00000023893|OTTHUMP00000023894|ring finger protein 127 protein-coding 1347914 LOR loricrin This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq] 1580863 10908733,2007607,18844868,18166499,17953701,15598222,15102081,12615358,12477932,12200429,12072018,11703298,11443109,10798362,10066784,9690138,9326398,9326323,8999895,8673107,8274037,8248167,7592852,1355480,16169070,20634891,19601998,19672094,20184865,20236940 4014 NM_000427,NG_011818,AB013076,AL161636,CH471121,M94077,BC034690,BC108290,CR536555,M61120 NP_000418,BAA25794,CAI19560,EAW53339,AAA36181,AAH34690,AAI08291,CAG38792,AAA36180,O60354,P23490,Q6FHY3 Hs.251680 MGC111513 loricrin protein-coding 736846 LOX lysyl oxidase The protein encoded by this gene is an extracellular copper enzyme that initiates the crosslinking of collagens and elastin. The enzyme catalyzes oxidative deamination of the epsilon-amino group in certain lysine and hydroxylysine residues of collagens and lysine residues of elastin. In addition to crosslinking extracellular matrix proteins, the encoded protein may have a role in tumor suppression. [provided by RefSeq] 1580835,1581883,1581895,1581887,1581881,1581896,1581899,1581885,1581886,1581902,1580863 16642001,16533769,16440329,16357151,16344560,16251195,16023247,15843371,15489334,15374948,15273433,15137057,15110773,12820424,12750963,12686141,12577300,12477932,12452073,12101112,11916256,11807790,11675877,11642359,10391127,9111998,8636146,8442432,8100215,8082810,7902322,7706256,6912069,6147899,6144680,6127904,3120785,2874833,2863189,1683640,20929399,20956321,1357535,1352776,1685472,15609325,19111879,19029090,19020742,18764858,18566459,17849172,17673218,17616686,17395448,20498644,15146197,19394199,19406911,19526206,19654310,19661442,19667273,19724858,19816945,20026874,20179655,20379614,20453000,20146053,20689807 1580835,1581883,1581895,1581887,1581881,1581896,1581899,1581885,1581886,1581902 4015 NG_008722,AC010255,AF039290,AF270645,CH471086,L16895,M84150,AF039291,AI536895,AK297709,NM_002317,AK298781,AK307559,AK307732,AK312269,AK315873,AK316309,BC074820,BC074872,BC089436,DA461370,M94054,S45875,S78694,CN265862,EF094938,NM_001178102,CR591353 NP_002308,AAD10703,AAK58603,EAW48898,AAA16870,AAA59541,AAD02130,BAG60066,BAG60920,BAG35200,BAF98764,BAH14680,AAH74820,AAH74872,AAH89436,AAA59525,AAB23549,AAB21243,P28300,Q71V04,Q96PQ9,ABO15004,NP_001171573 Hs.102267 MGC105112 protein-lysine 6-oxidase protein-coding 1312479 LOXHD1 lipoxygenase homology domains 1 737633 17353931,14702039,12477932,10737800,19732867,20379614 737633 125336 NM_001145473,NM_144612,AC018931,AC064800,AC091139,CH471088,AK057232,AK127869,AK302484,AK302848,BC041860,BC047720,BF901688,BX647229,NM_001145472,BG722402,DR731345,DR731346,NG_016646,NM_001173129 NP_001138944,NP_001138945,NP_653213,EAX01477,EAX01478,EAX01479,EAX01480,BAB71390,BAH13723,BAH13821,AAH41860,AAH47720,Q8IVV2,NP_001166600 Hs.345877 DFNB77|FLJ32670|LH2D1 OTTHUMP00000196916|lipoxygenase homology domain-containing protein 1 protein-coding 1318705 LOXL1 lysyl oxidase-like 1 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq] 1580863 18282488,18254956,18223248,18201684,18037624,18036875,17999374,17891191,17690546,17690259,17287949,16842595,16251195,15489334,15086544,14550642,12686136,12577300,12477932,11642359,10773658,7706256,14745449,18287813,7689553,19373106,19343041,19240540,19182211,19112534,19098994,18974306,18958304,18806885,18648524,18636115,18618003,18552979,18541854,18483563,18450598,18421074,18385788,18385063,18334947,18334928,18332326,20613779,19450918,19503743,19584346,19664108,19724858,19763368,19936304,20051886,20142848,20379614,20431720,20436359 4016 NM_005576,NG_011466,AC108137,U24389,AK303982,AK314222,AL529650,BC015090,BC068542,CR598332,CR618115,L21186 NP_005567,AAA68940,BAG64900,BAG36895,AAH15090,AAH68542,AAA50162,Q08397,ABM84257 Hs.65436 LOL|LOXL lysyl oxidase homolog 1|lysyl oxidase-like protein 1 protein-coding 1318201 LOXL2 lysyl oxidase-like 2 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq] 1580863 9079631,19015874,18590575,18559498,17287949,16096638,16023247,15489334,14702039,12820424,12686136,12670920,12477932,11642359,11162352,10212285,9722957,9373149,8125298,20439985,19383344,19394199,19625348,19724858,20012301,20026874,20043065 4017 NM_002318,AC090197,AC104561,CH471080,AF117949,AK098436,AK124508,AK222477,AK293292,AK312266,BC000594,BC020481,CR611797,U89942 NP_002309,EAW63625,EAW63626,EAW63627,AAD34343,BAD96197,BAG56815,BAG35197,AAH00594,AAB49697,Q53HV3,Q9Y4K0,ABM83611,ABM86855 Hs.626637,Hs.661130 LOR2|WS9-14 lysyl oxidase homolog 2|lysyl oxidase related 2|lysyl oxidase-like protein 2|lysyl oxidase-related protein 2|lysyl oxidase-related protein WS9-14 protein-coding 1322239 LOXL3 lysyl oxidase-like 3 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. [provided by RefSeq] 1580863 11284725,19015874,17287949,17018530,16096638,12686136,12477932,11642359,11386757,11334717,16169070,19724858 84695 AC005033,AC005041,CH471053,AF282619,AF284815,AF311313,AK309474,AK309478,BC033130,BC071865,DQ378059,NM_032603 Q8N505,NP_115992,AAX93223,EAW99615,EAW99616,AAK51671,AAK91134,AAK63205,AAH33130,AAH71865,ABD23013,P58215,Q2EHP2,Q53TY1,Q6IPL7 Hs.727659 LOXL OTTHUMP00000202709|OTTHUMP00000202710|lysyl oxidase homolog 3|lysyl oxidase-like protein 3 protein-coding 1318447 LOXL4 lysyl oxidase-like 4 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq] 1580863 11292829,19015874,18949373,18586005,18202753,17671119,17287949,17081983,15489334,14702039,14551188,12894545,12686136,12477932,11691589,11691588,16189514,16385451,19060904,21115907 84171 AL139241,CH471066,AF338441,AF395336,AK025542,AK172781,AY036093,BC007522,BC013153,BC015656,BC035470,W44920,NM_032211 NP_115587,CAH72819,EAW49886,AAK71934,AAL27543,BAB15167,BAD18762,AAK64186,AAH07522,AAH13153,Q96JB6,ABM81993,ABM85175 Hs.306814,Hs.671890 FLJ21889|LOXC lysyl oxidase homolog 4|lysyl oxidase related C|lysyl oxidase-like protein 4|lysyl oxidase-related protein C protein-coding 1343679 LPA lipoprotein, Lp(a) 1580863 20593350,21127300,9269765,8047165,9548923,14718574,19509380,19479237,19349573,19335423,19263529,19233690,19222374,19208510,19198611,19131662,19124843,19023099,19014618,18983515,18848929,18806883,18776185,18775538,18682798,18682748,16625232,16497311,16403785,16202171,16197951,16150826,16122830,16113787,16053196,15983325,15905467,15708348,15654123,15543335,15523644,15515480,15479125,15258620,15041277,14746139,12940514,12738397,12578871,12562843,12482643,12359323,12220441,12127051,12111551,12082592,11999088,11947970,11865151,11833851,11822583,11816712,11485023,11440434,11332648,11294842,11285247,11126727,10980194,10672142,10484779,10187779,10073957,9717723,9111002,8864963,8642595,7918682,3670400,3410459,2531657,2530631,20197188,20705065,21149283,18660489,18622136,18599799,18594118,18582452,18560444,18513389,18479303,18464913,18386550,18280807,18198982,18163888,18086931,17975119,17942087,17923276,17908332,17845920,17683612,17603063,17569884,17537433,17478739,17462619,17460176,17145597,16893192,16840570,18304554,19348789,19496273,19545557,19564206,19572086,19636317,19642912,19646429,19672030,19808717,19880117,19948975,20014954,20026018,20032323,20036902,20160194,20379614,20452482,20106478,20444451,20971364,19913121,20601648,20605575,20628086,20673868,20679960,20580413,21086792 4018 NM_005577,AF158656,AF158657,AF158661,AF158663,AL109933,AL596089,CH471051,DQ452068,AY039748,X06290,NG_016147 NP_005568,AAF03677,AAF03676,AAF03679,AAF03680,CAI22905,CAH73590,EAW47596,ABF47086,AAK74187,CAA29618,P08519,Q1HP67,Q8N696,Q9UIR5,Q9UIR6,Q9UIR8,Q9UKJ7 Hs.520120 AK38|APOA|LP OTTHUMP00000017543|antiangiogenic AK38 protein|apo(a)|apolipoprotein(a)|lp(a) protein-coding 1346284 LPAL1 lipoprotein, Lp(a)-like 1 7679504 4019 1601956 LPAL2 lipoprotein, Lp(a)-like 2 pseudogene Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 19198611,16344560,12477932,7749817,7679504,2268308,1554698,1454851 80350 U19518,NR_028092,NR_028093,AL591069,CH471051,L07899,M62890,M86877,M86878,M90078,M90079,AK125910,BC110570,DB312928,U19517 AAA85693,Q16609,AAI66644,EAW47597,EAW47598,AAB66587,AAA36454,AAB49909,AAA51749,AAA35547,AAA35546,AAA85692 Hs.654503 APOA2|APOAL|APOARGC|MGC129532|RP11-72O9.2 pseudo 731581 LPAR1 lysophosphatidic acid receptor 1 The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq] 1626474,1626471,1580863,2317680,2317696 19913121,20628086,20659327,18577758,8922387,9804623,12761501,9070858,19420982,19306925,19081821,19025891,18754873,18703779,18627789,18625619,18617617,18325907,18089805,18089565,18006645,17923111,17531530,17496233,16809448,16716145,16263766,15755723,15489334,15292052,15208267,14702039,14696401,14688263,12670925,12668728,12477932,12393875,12123830,11948806,11093753,9893266,9600933,16754659,9069262,19853236,19860625,19899077 1626474,1626471,2317680,2317696 1902 NM_001401,NM_057159,AC007157,AL157881,AL442064,CH471105,AK022808,AK290287,AK296374,AK298590,AK299279,AY322546,BC030615,BC036034,BC073167,BI461641,U78192,U80811,Y09479 NP_001392,NP_476500,CAH69979,CAI13009,CAI13010,EAW59068,EAW59069,BAG51118,BAF82976,BAG59048,BAG60780,BAG61296,AAP84359,AAH30615,AAH36034,AAH73167,AAC00530,AAC51139,CAA70686,CAA70687,Q5VZX0,Q6GPG7,Q92633 Hs.126667 EDG2|GPR26|Gpcr26|LPA1|Mrec1.3|VZG1|edg-2|rec.1.3|vzg-1 LPA receptor 1|LPA-1|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2|lysophosphatidic acid receptor 1|lysophosphatidic acid receptor Edg-2|ventricular zone gene 1 protein-coding 1312931 LPAR2 lysophosphatidic acid receptor 2 This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq] 1580863 11093753,20890765,2834384,19293149,19306925,19860625,19899077,9525886,14688263,16203867,9804623,19116446,19081821,19025891,19001604,18754873,18703779,17965021,17765657,17496233,16904289,16344560,16341674,15755723,15728708,15535846,15489334,15143197,15057824,14702039,12759391,12668280,12477932,12123830,11024010,10954727,10922489,10818441,10729222,10537322,16754659 9170 NM_004720,AC002306,AC011458,CH471106,AF011466,AF197929,AF233092,AK123043,AK316573,AU133824,AY322548,BC025695,BM840024,CR598581,CR623876 NP_004711,AAB61528,EAW84836,EAW84837,AAC27728,AAG28521,AAF43409,BAG53861,BAG38162,AAP84361,AAH25695,Q9HBW0 Hs.122575 EDG-4|EDG4|FLJ93869|LPA-2|LPA2 G protein-coupled receptor|LPA receptor 2|LPA receptor EDG4|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4|lysophosphatidic acid receptor 2|lysophosphatidic acid receptor EDG4|lysophosphatidic acid receptor Edg-4 protein-coding 1323219 LPAR3 lysophosphatidic acid receptor 3 This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq] 1580914,1626471,1626474,1580863 18029348,19860625,19899077,18840781,18627789,18006645,17923111,15489334,15292052,12884281,12668280,12623301,12477932,12123830,11982483,11093753,10891327,10727522,2834384,10488122,19420982,19081821,19025891,19001604,16754659 1580914,1626471,1626474 23566 NM_012152,AC104169,AL139150,AF127138,AF186380,AF236117,AK308283,AY322547,BC126268,BC126270,BC144021,BU633960,CH471097 NP_036284,EAW73222,AAD56311,AAF00530,AAF91291,AAP84360,AAI26269,AAI26271,Q9NRB8,Q9UBY5 Hs.674915 EDG7|Edg-7|FLJ98231|GPCR|HOFNH30|LP-A3|LPA3|RP4-678I3 LPA receptor 3|LPA receptor EDG7|LPA-3|OTTHUMP00000011573|calcium-mobilizing lysophosphatidic acid receptor LP-A3|endothelial cell differentiation gene 7|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7|lysophosphatidic acid receptor 3|lysophosphatidic acid receptor Edg-7 protein-coding 1350247 LPAR4 lysophosphatidic acid receptor 4 This gene encodes a member of the lysophosphatidic acid receptor family. It may also be related to the P2Y receptors, a family of receptors that bind purine and pyrimidine nucleotides and are coupled to G proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq] 1580863 9073069,16344560,16335952,15772651,15489334,12724320,12477932,11004484,9223435,8889548,16754659,18240029,19860625,20069565,20890765 2846 NM_005296,AF005419,AL590083,AY301274,CH471104,U66578,U90323,AA424772,AK314134,BC069996,BC074722,BC095538,BM973092,BX100826,DA735126,U90322,NG_013242 NP_005287,AAB66322,CAD18851,AAP58404,EAW98596,AAC51301,AAB62087,BAG36824,AAH69996,AAH74722,AAH95538,AAB62088,Q99677 Hs.522701 GPR23|LPA4|P2RY9|P2Y5-LIKE|P2Y9 G protein-coupled receptor 23|G-protein coupled receptor 23|LPA receptor 4|LPA-4|P2Y purinoceptor 9|P2Y5-like receptor|g protein-coupled receptor 23|lysophosphatidic acid receptor 4|purinergic receptor 9 protein-coding 1348840 LPAR5 lysophosphatidic acid receptor 5 This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq] 1580863 17920662,16774927,16651401,15489334,12477932,12044878,11574155,11062477,20069565,19366702,19860625,18499677 57121 NM_020400,NM_001142961,AB083600,AC135892,AF411112,CH471116,CQ859776,AB041943,AJ272207,AK313127,BC033571,BC072394,DC328599,DC329320 NP_065133,NP_001136433,BAB89313,AAL26483,EAW88775,EAW88776,CAH25938,BAD83597,CAC03715,BAG35947,AAH33571,AAH72394,Q5KU18,Q9H1C0,ABM83823,ABM87144 Hs.155538 GPR92|GPR93|KPG_010|LPA5 G protein-coupled receptor 92|G-protein coupled receptor 92|G-protein coupled receptor 93|LPA receptor 5|LPA-5|lysophosphatidic acid receptor 5 protein-coding 1349646 LPAR6 lysophosphatidic acid receptor 6 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 18297070,19386608,19292720,19061667,18830268,18803659,18692127,18461368,18297072,15582581,15489334,15057823,14702039,12477932,11004484,10737800,9755289,9373149,9240460,8889552,8125298,7902321,21048031,18577758,16754659,18240029,19529952 10161 NM_005767,NM_001162497,NM_001162498,AF551763,AL392048,CH471075,L78805,AF000546,AK122856,AK123059,AK223389,BC039373,BC040850,BC045651,BC054346,BC070295,BC106756,BF950635,BF951153,BQ006077,BX537392,BX537438,BX537445,BX647109,CR597194,AL136960,NG_012874 NP_005758,NP_001155969,NP_001155970,AAN64134,CAH72247,EAX08796,EAX08797,AAL40065,AAB62190,BAG53764,BAG53867,BAD97109,AAH40850,AAH45651,AAH70295,AAI06757,CAD97634,CAD97680,CAD97687,P43657,ACE87357,ACE86673 Hs.123464,Hs.676545 ARWH1|LAH3|MGC120358|P2RY5|P2Y5 G-protein coupled purinergic receptor P2Y5|LPA receptor 6|LPA-6|OTTHUMP00000018396|P2Y purinoceptor 5|RB intron encoded G-protein coupled receptor|lysophosphatidic acid receptor 6|oleoyl-L-alpha-lysophosphatidic acid receptor|purinergic receptor 5|purinergic receptor P2Y, G-protein coupled, 5 protein-coding 1602676 LPCAT1 lysophosphatidylcholine acyltransferase 1 Lysophosphatidylcholine (LPC) acyltransferase (LPCAT; EC 2.3.1.23) catalyzes the conversion of LPC to phosphatidylcholine (PC) in the remodeling pathway of PC biosynthesis (Nakanishi et al., 2006 [PubMed 16704971]).[supplied by OMIM] 18974965,18156367,16704971,15489334,14702039,12693554,12477932,9110174,8619474,19383981,20407208,18029348 79888 NM_024830,AC026748,AC091849,CH471102,AB244719,AF052162,AF530061,AK022499,AK022505,AK090444,AK095552,AK123603,AL831864,BC002543,BC020166,BQ961819,BU539058,CR601379,CR624021 NP_079106,EAX08154,EAX08155,EAX08156,BAE94688,AAQ09945,BAB14061,BAB14065,BAC03425,CAD38556,AAH20166,Q8NF37,AAI40368 Hs.368853 AYTL2|FLJ12443|FLJ41609|PFAAP3|lpcat 1-acylglycerophosphocholine O-acyltransferase|1-alkylglycerophosphocholine O-acetyltransferase|LPC acyltransferase 1|LPCAT-1|acetyl-CoA:lyso-PAF acetyltransferase|acetyl-CoA:lyso-platelet-activating factor acetyltransferase|acyl-CoA:lysophosphatidylcholine acyltransferase 1|acyltransferase like 2|acyltransferase-like 2|lyso-PAF acetyltransferase|lysoPAFAT|lysoPC acyltransferase 1|lysophosphatidylcholine acyltransferase 1|phosphonoformate immuno-associated protein 3|regulated by phosphonoformate protein-coding 1606279 LPCAT2 lysophosphatidylcholine acyltransferase 2 This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq] 18029348,20379614,17182612,15489334,14702039,12477932,20363836,19913121,20628086,21048031 54947 NM_017839,AC007336,AC026802,CH471092,AB244718,AI915099,AK000488,AK023271,AK308386,AW366682,BC002472,BC005981,BG772279,BX641069 NP_060309,EAW82829,BAF47696,BAA91199,AAH02472,CAE46034,ACE87121,ACE86445,Q7L5N7 Hs.460857 AYTL1|DKFZp686H22112|FLJ20481|LysoPAFAT 1-acylglycerophosphocholine O-acyltransferase|1-alkylglycerophosphocholine O-acetyltransferase|LPC acyltransferase 2|LPCAT-2|acetyl-CoA:lyso-PAF acetyltransferase|acetyl-CoA:lyso-platelet-activating factor acetyltransferase|acyl-CoA:lysophosphatidylcholine acyltransferase 2|acyltransferase like 1|acyltransferase-like 1|lyso-PAF acetyltransferase|lyso-platelet-activating factor (PAF) acetyltransferase|lysoPC acyltransferase 2|lysophosphatidylcholine acyltransferase 2 protein-coding 3563725 LPCAT2BP lysophosphatidylcholine acyltransferase 2b, pseudogene 20210993 100128094 AC104836,NG_022792 pseudo 1604396 LPCAT3 lysophosphatidylcholine acyltransferase 3 20837115,18782225,18781350,18772128,18195019,16541075,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,10446276,9074930,8723724,19351971,20018618 10162 AC006512,CH471116,U47924,AK058063,AK096775,AK296145,AK296164,AK296171,AK311727,AK315538,AU125262,BC000664,BC065194,BT007000,BX647983,BX648009,NM_005768,CR626226,U72515 NP_005759,EAW88691,EAW88692,EAW88693,AAB51326,BAH12269,BAH12270,BAH12271,BAG37917,AAH00664,AAH65194,AAP35646,AAC51640,Q6P1A2,CAL38149 Hs.655248 C3F|LPCAT|LPLAT 5|LPSAT|MBOAT5|OACT5|nessy 1-acylglycerophosphocholine O-acyltransferase|1-acylglycerophosphoserine O-acyltransferase|O-acyltransferase (membrane bound) domain containing 5|O-acyltransferase domain-containing protein 5|lyso-PC acyltransferase 3|lyso-PS acyltransferase|lysophosphatidylserine acyltransferase|lysophospholipid acyltransferase 5|membrane bound O-acyltransferase domain containing 5|membrane-bound O-acyltransferase domain-containing protein 5|putative protein similar to nessy protein-coding 1604192 LPCAT4 lysophosphatidylcholine acyltransferase 4 Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM] 18458083,16243729,15489334,14702039,12477932,9110174,8619474,7566098 254531 NM_153613,AC025678,CH471125,AF007155,AF529233,AF542964,AK001119,AK290273,AK308910,AL832237,AY734233,BC024892,BC028209,BC048430,BC092463,BC144236,CR617279 EAW92306,EAW92307,EAW92308,AAC19156,AAP97722,AAN33178,BAF82962,AAU34184,AAH24892,AAH92463,AAI44237,Q643R3,NP_705841 Hs.352614 AGPAT7|AYTL3|FLJ10257|LPAAT-eta|LPEAT2 1-AGP acyltransferase 7|1-AGPAT 7|1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)|PLSC domain containing protein|acyl-CoA:lysophosphatidylethanolamine acyltransferase 2|acyltransferase like 3|acyltransferase-like 3|lysophosphatidylethanolamine acyltransferase 2|lysophospholipid acyltransferase LPCAT4 protein-coding 1353817 LPGAT1 lysophosphatidylglycerol acyltransferase 1 Acyl-CoA:lysophosphatidylglycerol (LPG) acyltransferase catalyzes the reacylation of LPG to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin (Yang et al., 2004 [PubMed 15485873]).[supplied by OMIM] 1580863 10942595,15489334,15485873,12477932,9637538,9039502,17207965 9926 NM_014873,AC096637,AL445488,CH471100,AI264005,AY561706,BC034621,CR613115,D86960 NP_055688,EAW93407,EAW93408,AAS66979,AAH34621,BAA13196,Q92604,ADQ32322,CAI15620 Hs.725980 FAM34A|FAM34A1|NET8 acyl-CoA:lysophosphatidylglycerol acyltransferase 1|family with sequence similarity 34, member A protein-coding 1348408 LPGAT1P1 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 404667 1351682 LPGP1 lipogenic protein 1 4021 733163 LPHN1 latrophilin 1 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms. 2314400,1580863 20936779,15489334,15203201,15144186,15066411,14702039,12477932,11520923,10994649,10964907,10048485,10958799,20400778,20971062 2314400 22859 AB020628,AF307079,AK022001,BC002974,BC007587,BC013275,BC019928,BC028296,BC052627,BC072445,BC090949,NM_014921,NM_001008701,AB065919,AC011509,AC022098,CH471106 BAA74844,AAG27461,BAB13950,AAH02974,AAH07587,AAH28296,O94910,Q9HAA0,AAI68378,NP_055736,NP_001008701,BAC06134,EAW84404,EAW84405,EAW84406,EAW84407,EAW84408,EAW84409 Hs.94229 CIRL1|CL1|LEC2 CIRL-1|calcium-independent alpha-latrotoxin receptor 1|cl1ba protein|latrophilin-1|lectomedin-2 protein-coding 732054 LPHN2 latrophilin 2 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. While several transcript variants have been described, the biological validity of only one has been determined. [provided by RefSeq] 1580863 15203201,10030676,17456239,16710414,15066411,11520923,10964907,10760572,9872452,8889548,10994649,12477932,17903293,19749422 23266 NM_012302,AC113949,AJ242517,AJ242518,AJ244492,AJ244493,AJ244494,AJ244495,AJ244496,AJ244497,AJ244498,AJ244499,AJ244500,AJ244501,AJ244502,AJ244503,AJ244504,AJ244505,AJ244506,AJ244507,AJ244508,AJ244509,AJ244510,AJ244511,AJ244512,AJ244513,AJ244514,AJ244515,AJ244516,AL157903,AL358939,AL359705,AF104266,AF104938,AF104939,AJ131581,AK123422,BM983870,CR596199,CR621974,DQ925675,CH471059,AB018329,BC031321 NP_036434,CAB60229,CAB60201,CAB60202,CAB60203,CAB60204,CAB60205,CAB60206,CAH71340,CAB60207,CAI22397,CAI22398,CAI22399,CAI22400,CAI22401,CAI22402,CAI22403,CAI22404,CAI22405,CAI22406,AAD54675,AAD54676,AAD54677,CAA10458,BAG53903,ABL59902,O95490,Q9UJ48,Q9UJ49,Q9UJ50,Q9UJ51,Q9UJ52,CAH71341,CAH71342,CAH71343,CAH71344,CAH71345,CAH71346,CAH71347,CAH71348,EAX06321,EAX06322,EAX06323,EAX06324,EAX06325,EAX06326,EAX06327,EAX06328,EAX06329,EAX06330,EAX06331,EAX06332,EAX06333,EAX06334,EAX06335,EAX06336,EAX06337,EAX06338,EAX06339,EAX06340,EAX06341,BAA34506 Hs.24212,Hs.649282 CIRL2|CL2|LEC1|LPHH1 CIRL-2|OTTHUMP00000011441|OTTHUMP00000011442|OTTHUMP00000011443|OTTHUMP00000011445|OTTHUMP00000011447|OTTHUMP00000011448|OTTHUMP00000011449|OTTHUMP00000011450|OTTHUMP00000011451|OTTHUMP00000011452|calcium-independent alpha-latrotoxin receptor 2|latrophilin 1|latrophilin homolog 1|latrophilin homolog 2 (cow)|latrophilin-2|lectomedin-1 protein-coding 1353351 LPHN3 latrophilin 3 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq] 2314400 20677014,9847074,7937745,21107309,9872452,10994649,15203201,15066411,14702039,12477932,11520923,10964907,20522523,19043545,19260141,20157310,20379614,21040458,21077132 2314400 23284 NM_015236,AC007511,AC020741,AC092663,AC092668,AC096723,AC104813,AC108161,CH471057,AB018311,AK000781,AK094703,AK294689,AK299651,AK309793,BC039452,AC225889 NP_056051,AAY40992,EAX05525,EAX05526,EAX05527,EAX05528,EAX05529,EAX05530,BAA34488,BAA91375,BAH11848,BAH13089,Q4W5J9,Q9HAR2 Hs.28391,Hs.570770 CIRL3|LEC3 CIRL-3|OTTHUMP00000218740|OTTHUMP00000218742|OTTHUMP00000218743|OTTHUMP00000218744|OTTHUMP00000218745|OTTHUMP00000218746|OTTHUMP00000218747|OTTHUMP00000218748|OTTHUMP00000218749|OTTHUMP00000218750|OTTHUMP00000218751|OTTHUMP00000218752|OTTHUMP00000218753|OTTHUMP00000218754|calcium-independent alpha-latrotoxin receptor 3|latrophilin homolog 3 (cow)|latrophilin-3|lectomedin 3 protein-coding 1316957 LPIN1 lipin 1 This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism. [provided by RefSeq] 1641826,1641822,1580863 20735359,19543209,19553673,19717560,19753306,20308432,20356931,20530740,11138012,18974842,18829900,18817903,18694939,18693052,18591397,18437145,18362392,18070763,17950103,17940119,17563064,17105729,17035674,17003347,16950137,16467296,16357106,15489334,14702039,12477932,12111372,11792863,10884287,10644441,8724849,20583302,20101248,8944226 1641826,1641822 23175 HI573914,AK302922,NG_012843,NM_145693,AC012456,CH471053,AF147446,AI379040,AK127039,AK290235,AK293787,AK294742,AK294853,AK310450,AL357194,BC018071,BC030537,BI459149,CR749806,D80010 BAG57200,CBX47446,BAH13844,NP_663731,AAY14695,EAX00918,EAX00919,EAX00920,BAF82924,BAG57885,BAG57957,AAH30537,CAH18666,BAA11505,Q14693,Q68CS2,ABM85602 Hs.467740 DKFZp781P1796|KIAA0188|PAP1 OTTHUMP00000179151|OTTHUMP00000179153|lipin-1|phosphatidate phosphatase LPIN1 1643262,1643271 BW207_H,BW214_H protein-coding 1312114 LPIN2 lipin 2 Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq] 1580863 19136718,18694939,17804763,17081983,19717560,20032092,20379614,20735359,15994876,15862761,11138012,10884287,9039502,2722772,8944226 9663 NM_014646,NG_007507,AP000919,AP005431,CH471113,BC152448,BQ014306,D87436 NP_055461,EAX01686,EAX01687,AAI52449,BAA13380,Q92539,AAI60018 Hs.132342 KIAA0249 lipin-2|phosphatidate phosphatase LPIN2 protein-coding 1342644 LPIN3 lipin 3 Humans lipodystrophy is characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mice carrying mutations in the fatty liver dystrophy (fld) gene have similar phenotypes. Through positional cloning, the mouse gene responsible for fatty liver dystrophy was isolated and designated Lpin1. The nuclear protein encoded by Lpin1 was named lipin. Lpin1 mRNA was expressed at high levels in adipose tissue and was induced during differentiation of preadipocytes. These results indicated that lipin is required for normal adipose tissue development and provided a candidate gene for human lipodystrophy. Through database searches, mouse and human EST and genomic sequences with similarities to Lpin1 were identified. These included two related mouse genes (Lpin2 and Lpin3) and three human homologs (LPIN1, LPIN2, and LPIN3). Human LPIN1 gene has been mapped to 2p25.; linkages of fat mass and serum leptin levels to this same region have been noted. Human LPIN2 and LPIN3 mapped to chromosomes 18p11 and 20q11-q12, respectively. The mouse genes encoding Lpin1, Lpin2, and Lpin3 mapped to chromosome 12, 17, and 2, respectively. [provided by RefSeq] 1580863 11780052,11138012,10884287,12477932,20735359 64900 NM_022896,AL031667,AL132654,CH471077,BC140806,BC144598,BX505800,BX647082,BX648609 NP_075047,CAI42978,CAI42979,CAI21064,CAI21065,EAW75985,EAW75986,AAI40807,Q9BQK8 Hs.25897 LIPN3L|SMP2|dJ450M14.2|dJ450M14.3|dJ620E11.2 lipin 3-like|lipin-3|lipin-3-like|phosphatidate phosphatase LPIN3 protein-coding 70836 LPL lipoprotein lipase LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq] 1580533,1580536,1580537,1580539,1556752,1357916,2313304,2313580,2313305,2313581,1302535,1300048,1580863,1302536,1556571,1578729,1580535,2313298,2313300,2313302,2313303 19780863,19207029,19191728,19185650,19167106,19155782,19148283,19131662,19099922,19060911,19060910,19060906,19052449,19034316,19034041,19028676,19018513,19004026,18996102,18986377,18985010,18927546,18922999,18823627,18724972,18693040,18681781,18676680,17761930,17727701,17726453,17721767,17717288,17706445,17705673,17700364,17681919,17662793,17653444,17652898,17644777,17620184,17615573,17587400,17568951,17562973,17560523,17555736,17535427,17533471,17517063,17487735,17484619,17476032,17473385,17436307,17428620,17374417,17356047,17347923,17342071,17328917,17318300,17311894,17299379,17299085,17291198,17244606,17163816,17157861,17137217,17130180,17093291,17072956,17058522,17032721,17029199,17006673,17001213,16989840,16965549,16926441,16896939,16894468,16864937,16840197,16837242,16829344,16822320,16813599,16799404,16776623,16770077,16763159,16755277,16741292,16702309,16651467,16635607,16630553,16552397,16544732,16542392,16534528,16519597,16517593,16466345,16460718,16451134,16449872,16446009,16431216,16430904,16419488,16418216,16416313,16378107,16369102,16364275,16357806,16353345,16344560,16343038,16256241,16253639,16205020,16195478,16179346,16168296,16142021,16141008,16135440,16132104,16122151,16106048,16086925,16030523,16029634,16015281,16013913,15994321,15979432,15961789,15939061,15928243,15896905,15878772,15802535,15795426,15793775,15764642,15749185,15721013,15699916,15696473,15657615,15637076,15608561,15562208,15545743,15543643,15489334,15386377,15356086,15331147,15292372,15292370,15270617,15257172,15256516,15253101,15221136,15202783,15189363,15155715,15135251,15127290,15115692,15076187,15060087,15051515,15019539,14988305,15858619,15857159,14988233,14984315,14967813,14764824,14702039,14693718,14669227,14660566,14581156,14580165,14580156,14570890,14564687,14553962,12966036,12964943,12919138,12915220,12905705,12889841,12876415,12866915,12865761,12862202,12818414,12793009,12782148,12777470,12747600,12746411,12740382,12732844,12708905,12704407,12701046,12690214,12687649,12679477,12655575,12647273,12636935,12544508,12514935,12501246,12483461,12477932,12446192,12408999,12370850,12230584,12226739,12208477,12174215,12164879,12133567,12133533,12117735,12107736,12082592,12044583,12042669,11996946,11947965,11921083,11899831,11897170,11893778,11893776,11852057,11834518,11796709,11796707,11730816,11714860,11714857,11711487,11702219,11702052,11683775,11680797,11605530,11593500,11579204,11534394,11533368,11500192,11484171,11441189,11427211,11395037,11341749,11316129,11284423,11229437,11205691,11194013,11171287,11140837,11132601,11126401,11096142,11073182,10660334,10391209,9719626,9662394,9519338,9430364,9401010,9374130,9373149,9298816,9183545,8956048,8567671,8486765,8449037,8325986,8308035,8301230,8288243,8144523,8135797,8125298,8096693,7989348,7906986,7818530,7806969,7713910,7686151,7647785,7592875,7510694,3823907,3692485,3515966,3355847,2701938,2536938,2349938,2340307,2294743,2243796,2121025,2110364,2038366,2010533,1975597,1907278,1752947,1737848,1731801,1730727,1702428,1674945,1639392,1619366,1598907,1576758,1537564,1521525,1511985,1479292,1406652,1400331,1371284,1281473,16169070,12755701,1969408,10727238,10085125,3973011,182536,12573449,19584682,19501493,19489872,19479237,19420105,19403283,19368142,19367320,19367093,19357293,19336475,19336370,19335919,19299407,19295657,19259048,19254215,19246456,18660489,18649389,18636124,18635818,18619685,18603820,18596051,18590804,18535540,18513389,18494281,18454146,18449420,18354102,18336668,18325076,18321693,18275964,18275685,18242618,18223635,18193046,18193044,18193043,18187430,18175800,18068174,18020971,17997385,17939375,17919884,17903299,17855807,17848837,17803213,20693566,20228263,20536507,20565774,20571754,20588308,20596061,20602615,20616609,20628086,20634891,20657596,20673868,20679960,20694148,16928730,17018885,17463246,18534873,18616755,18821565,19170196,19340428,19428034,19471043,19534808,19542565,19556723,19558660,19563912,19578796,19596235,19602472,19625176,19629056,19642912,19656773,19664517,19689828,19692168,19709746,19729601,19766899,19772655,19773416,19783858,19818126,19834535,19878569,19884647,19888660,19899640,19910634,19913121,19948975,19956635,20031538,20031551,20031591,20075597,20092038,20099167,20108206,20150529,20160193,20167577,20235787,20347446,20350420,20385819,20400780,20403997,20410100,20416077,20429872,20430250,20430392,20452482,20506644,20421589,20581395,19875996,20538960,20691829,20712903,20714348,20836743,20855565,20864672,20943490,20595410 1580533,1580536,1580537,1580539,1556752,1357916,2313304,2313580,2313305,2313581,1302535,1302536,1556571,1578729,1580535,2313298,2313300,2313302,2313303 4023 NM_000237,NG_008855,AC100802,AC107964,AF050163,AY092405,CH471080,DQ083390,M76722,S76076,S76077,X68111,AK092286,AK222464,AK290290,AK297164,AK312311,BC011353,BT006726,CR457054,CR605471,DA485210,M15856,X14390,X54516 NP_000228,AAC61679,AAM23256,EAW63764,AAY85371,AAA59528,AAB21000,AAB20999,CAA48230,BAG52519,BAD96184,BAF82979,BAH12512,BAG35236,AAH11353,AAP35372,CAG33335,AAB59536,CAA32564,CAA38372,P06858,Q4JIZ7,Q53HW6,Q6IAV0,Q71UV2,Q8NEW3,ABM84467,ABM84677 Hs.180878 HDLCQ11|LIPD lipoprotein lipase 2289455,2314771,2314781,2314791 BW300_H,GLUCO108_H,GLUCO109_H,BW512_H protein-coding 1320729 LPO lactoperoxidase This gene encodes an oxidoreductase secreted from salivary, mammary, and other mucosal glands that functions as a natural antibacterial agent. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8964511,19505917,19059195,16740002,16344560,15894800,15489334,15384204,12626341,12584448,12477932,10828600,10814547,10715594,9030719,2222811,19423540,20237496,20406964,20438785 4025 NM_006151,NM_001160102,NR_027647,AC004687,AC005962,AY324876,CH471109,AF027971,AK131496,AK300653,AK303903,AK308378,AK310965,BC107166,BC107167,BX487327,BX538344,BX648309,DB230339,EF579964,M58151,U39573 NP_006142,NP_001153574,AAP72968,EAW94474,EAW94475,AAG38481,BAG62341,BAG64833,AAI07167,CAD98107,ABQ53140,AAA63213,AAC50717,P22079,Q7Z2Y6,Q9H3M1,AAI07168 Hs.234742 MGC129990|MGC129991|SPO lactoperoxidase|salivary peroxidase protein-coding 1321494 LPP LIM domain containing preferred translocation partner in lipoma 1580863 19240061,19073967,18311140,17322171,16738319,16484626,16397143,16375854,16271958,16094384,15951569,15649318,15592455,15144186,12760907,12615977,12522270,12505264,12441356,12063392,11433529,11329013,10637295,9772904,8812423,7670494,16169070,11066083,20647273,12477932,12581855,14702039,16137684,18029348,19205907,19693089,19851299,20190752,20379614,20410501 4026 NM_005578,A52566,A79998,AC009319,AC022498,AC055711,AC063932,AC069226,AC069430,AC117507,CH471052,U49968,AK302959,AK304035,AL833171,BC130584,BC144076,BG192042,CR457074,U29116,U49957,AA813328,AK055214,AK123506,BC042960,BX474180,BX641108,NG_016932,NM_001167671,NM_001167672 NP_005569,CAA03407,CAB59169,EAW78127,EAW78128,EAW78129,EAW78130,EAW78131,EAW78132,EAW78133,EAW78134,AAC50739,BAH13857,BAH14096,AAI30585,AAI44077,CAG33355,AAC50738,Q93052,NP_001161143,NP_001161144 Hs.5724 DKFZp779O0231|FLJ30652|FLJ41512 LIM protein|lipoma-preferred partner protein-coding 1604322 LPPR2 lipid phosphate phosphatase-related protein type 2 16344560,14750979,14702039,12477932,9373149,8125298 64748 DB169285,NM_001170635,NM_022737,AC024575,CH471106,AK023117,AK094869,AK225482,AL353953,AY304516,AY339628,BC009378,CR936652 NP_001164106,Q96GM1,NP_073574,EAW84200,EAW84201,EAW84202,EAW84203,BAB14414,BAC04443,CAH10684,AAP72153,AAQ73540,AAH09378,Q69YU8,CAI56790,ABM84418,ABM87435,ABW03584,ABW03585 Hs.6846 DKFZp761E1121|FLJ13055|PRG-4|PRG4 PRG-4|lipid phosphate phosphatase-related protein type 2|plasticity related gene 4|plasticity-related gene 4 protein protein-coding 1602461 LPPR3 lipid phosphate phosphatase-related protein type 3 The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM] 14702039,12730698,12477932,11230166,16169070 79948 NM_024888,AC004799,AC006273,AC112703,CH471242,AF357888,AF541282,AK021597,AL136596,AY304517,AY436785,BC012339,BC017295 NP_079164,EAW61149,EAW61150,EAW61151,AAO85401,AAP57771,BAB13851,CAB66531,AAP72154,AAR10818,AAH12339,Q6T4P5 Hs.546439 LPPR3|LPR3|PRG-2|PRG2 PAP-2-like protein 2|lipid phosphate phosphatase-related protein type 3|plasticity-related gene 2 protein protein-coding 1605099 LPPR4 plasticity related gene 1 The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. [provided by RefSeq] 9455484,16169070,12730698,12477932,12069809,19766573,20379614,20381006 9890 AL136147,AL139425,CH471097,AB007924,AF357013,AF541281,AK291369,AK300361,AL834390,AY304518,BC041386,BC042963,NM_014839,NM_001166252 NP_055654,CAI23225,CAI22799,CAI22800,EAW72991,EAW72992,BAA32300,AAO85400,AAP57770,BAF84058,BAG62101,CAD39052,AAP72155,AAH41386,AAH42963,Q3ZCT6,Q7Z2D5,Q86XM6,AAI48349,NP_001159724 Hs.13245 KIAA0455|LPR4|PHP1|PRG-1|PRG1|RP4-788L13.1 brain-specific phosphatidic acid phosphatase-like protein 1|lipid phosphate phosphatase-related protein type 4|plasticity related gene 1|plasticity-related gene 1 protein protein-coding 1312734 LPXN leupaxin The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 19760607,19917054,20098747,9565592,18497331,18451096,17640867,17329398,16189514,15786712,15592455,15489334,15342556,15144186,12674328,12477932,10604475,9373149,8889548,8125298,19913121,20628086,16094384 9404 NM_001143995,NM_004811,AP001350,AP003557,CH471076,AF062075,AK223165,AK299264,AK300955,AK301093,AK313306,BC007490,BC019035,BC034230,BP261314,BU688891,CR536531,CR591836,CR612739 NP_001137467,NP_004802,EAW73807,EAW73808,EAW73809,AAC16014,BAD96885,BAH12983,BAG62583,BAG62693,BAG36111,AAH19035,CAG38768,O60711,Q53FW6,Q6FI07,ABM83631,ABM86880 Hs.125474 LDPL leupaxin protein-coding 68515 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy. [provided by RefSeq] 1580863,1599754 18823527,18544127,17438524,17011878,16939223,16115871,15489334,15474300,15161698,14704332,14596594,14581364,12477932,12009892,11381255,11162450,11133845,10819989,9920938,9767084,1322170,20356843,18652909,19471114,19665987,20574532,20591486,20801516,15583024 1599754 9227 NM_004744,NG_009110,AC009567,CH471056,AF071510,AK125823,AK292598,AY546085,AY546086,BC031053 NP_004735,EAX04904,AAD13529,BAF85287,AAS49412,AAS49413,AAH31053,O95237,ACT64530,ACT64531 Hs.658427 LCA14|MGC33103 OTTHUMP00000220354|lecithin retinol acyltransferase protein-coding 1322886 LRBA LPS-responsive vesicle trafficking, beach and anchor containing Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449).[supplied by OMIM] 1580863 12477932,12160729,11254716,1505956,17474147,17353931,17081983,15554694,14702039,20379614 987 NM_006726,AC079794,AC092544,AC092612,AC093748,AC097373,AC104796,AC110813,CH471056,AB208838,AF216648,AF217149,AF467287,AK026483,AK098039,AK098552,AK122920,BC012535,BC064834,BT007180,BX537552,CR749633,M83822,AA810175,NM_001199282 NP_006717,AAY40984,AAY40973,EAX04996,BAD92075,AAG48558,AAG48559,AAM53530,BAG53798,AAH12535,AAH64834,AAP35844,CAH18427,AAB09603,P50851,Q59HC1,Q68D03,Q6P1X2,Q969R7,NP_001186211 Hs.480938 BGL|CDC4L|DKFZp686A09128|DKFZp686K03100|DKFZp686P2258|FLJ16600|FLJ25686|LAB300|LBA|MGC72098 CDC4-like protein|OTTHUMP00000220231|OTTHUMP00000220234|beige-like protein|cell division cycle 4-like|lipopolysaccharide-responsive and beige-like anchor protein|vesicle trafficking, beach and anchor containing protein-coding 1313845 LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 14702039,16344560,17762607,20237151,8889548,18049793,16891653,16447229,12477932,12168954,10231032 23143 AK123654,AL530544,BE018226,BM679696,BM991796,BM994390,CB529998,CB999464,CR739467,DA231068,NG_021335,NM_001164211,NM_001164213,NM_015116,AL136958,AL138704,AL359880,CH471075,AB023233,AK292898,AK309937,AY050631,AY050632,BC026097,BC112937,BC117472,BC143883 Q8TAR8,NP_001157683,NP_001157685,NP_055931,CAI12229,CAH73642,CAH73643,CAH70792,CAH70793,EAX08766,BAA76860,BAF85587,AAK95567,AAK95568,AAH26097,AAI12938,AAI17473,AAI43884,Q17R43,Q9Y2L9,ADR83344 Hs.507971 CHDC1|FLJ41660|KIAA1016|NP81 leucine-rich repeat and calponin homology domain-containing protein 1|neuronal protein 81 protein-coding 1354195 LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 18029348,15772651,14702039,12477932,10819331,17643375 57631 NM_020871,AL121878,AL445164,AL589786,CH471120,AB040928,AK022128,BC042004,BC125223,BC125224,BG541540,BX647193,CR623574,NG_021299 NP_065922,CAI42077,CAI43033,CAH70721,EAX02617,EAX02618,BAA96019,BAB13966,AAI25224,AAI25225,Q08AD5,Q5VUJ6 Hs.65366 KIAA1495|MGC150671|dA204F4.4 OTTHUMP00000023873|leucine-rich repeat and calponin homology domain-containing protein 2 protein-coding 1314681 LRCH3 leucine-rich repeats and calponin homology (CH) domain containing 3 737633 15489334,15324660,14702039,12477932 737633 84859 NM_032773,AC055764,AC144530,CH471252,AK024647,AK055819,AK125235,AK128758,AL137527,BC007504,BC008625,BC010565,AK293745,AK300466,AK303521 NP_116162,EAW92242,EAW92243,EAW92244,EAW92245,BAG51577,CAB70791,AAH07504,AAH10565,Q96II8,ABM84194,ABM87597,BAG57168,BAG62185,BAG64549 Hs.518414,Hs.659335 FLJ20994|FLJ43245|FLJ44976|MGC4126 2210409B11Rik|leucine-rich repeat and calponin homology domain-containing protein 3 protein-coding 1314592 LRCH4 leucine-rich repeats and calponin homology (CH) domain containing 4 This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq] 1580863 9799793,16449650,17081983,16189514,15489334,14702039,12690205,12477932,18851979,16169070,19060904 4034 NM_002319,AC069281,AF053356,CH236956,CH471091,AF459638,AK074175,AK074833,AK097420,AK128189,BC007634,BC018529,BG722226,CR597686,CR605636,CR610208,AK302410 NP_002310,AAC78793,EAL23828,EAW76519,EAW76520,AAQ04768,BAB85001,BAG52011,BAG63720,AAH07634,AAH18529,O75427,ABM84491,ABM85166 Hs.125742 FLJ40101|FLJ46315|LRN|LRRN1|LRRN4|PP14183|SAP25 leucine rich repeat neuronal 4|leucine-rich neuronal protein|leucine-rich repeat and calponin homology domain-containing protein 4|leucine-rich repeat neuronal protein 4 protein-coding 1323429 LRDD leucine-rich repeats and death domain containing The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 20395368,10825539,15073321,19203584,18238895,17637755,17437012,17329820,17159900,16982033,16652156,16360037,16189514,15489334,15146197,14702039,12477932,10973264,20406701,19060904,20208132 55367 BQ059356,CN427944,CN427946,NM_145886,NM_145887,AP006621,CH471158,AB208832,AB208949,AB209529,AF229178,AF274972,AF465246,AK074893,AL833849,BC014904,BG723687,BQ214414,BQ924290,BX349115 Q9HB75,ABW03662,NP_665893,NP_665894,EAX02390,EAX02391,EAX02392,BAD92069,BAD92186,BAD92766,AAF69491,AAG13461,AAP97716,BAC11272,CAD38708,AAH14904 Hs.592290 DKFZp434D229|MGC16925|PIDD leucine-rich and death domain containing|leucine-rich repeat and death domain-containing protein|p53-induced protein with a death domain protein-coding 1345231 LRE1 LINE retrotransposable element 1 4029 Q15606 1353895 LRE2 LINE retrotransposable element 2 7920631 4030 Q12881 U09116 1350031 LRE3 LINE retrotransposable element 3 8393568 4031 1346612 LRE4 LINE retrotransposable element 4 4032 1312309 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 16828986,12477932,10819331,16169070 57622 NM_020862,AC011445,CH471126,AB040917,BC014678,BC025310,BC040681 NP_065913,EAW56872,BAA96008,AAH14678,AAH25310,Q96C50,Q9P244 Hs.97860 KIAA1484|SALM2 leucine-rich repeat and fibronectin type III domain-containing protein 1|synaptic adhesion-like molecule 2 protein-coding 1323493 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 1580863 16828986,16495444,14574404,12477932,10574462,20379614 57497 NM_020737,AL033380,AL359475,AL591063,CH471081,AB033072,AK291474,BC109041,BC109042,BC142616 NP_065788,CAI15264,EAX04006,BAA86560,BAF84163,AAI42617,Q9ULH4 Hs.250015 FIGLER2|KIAA1246|RP11-535K1.2|SALM1 fibronectin type III, immunoglobulin and leucine rich repeat domains 2|leucine-rich repeat and fibronectin type-III domain-containing protein 2|synaptic adhesion-like molecule 1 protein-coding 1313671 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 737633,1580863 17081983,16828986,16495444,15489334,14702039,12975309,12477932 737633 79414 NM_024509,AF038458,AK172754,AK313579,AY358127,BC003578 NP_078785,BAD18740,AAQ88494,AAH03578,Q9BTN0,ABM84598,ABM86751 Hs.143792 FIGLER1|MGC2656|SALM4 fibronectin type III, immunoglobulin and leucine rich repeat domains 1|leucine-rich repeat and fibronectin type-III domain-containing protein 3|synaptic adhesion-like molecule 4 protein-coding 1350359 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 737633 16828986,16495444,15489334,15146197,12477932 737633 78999 NM_024036,AP003176,CH471076,BC007718,BC014040,BC015581,BC027475,BC071866,BC094813,CN297399,CR601830,CR615886,AB209005,BC000207 NP_076941,EAW74573,EAW74574,AAH00207,AAH07718,AAH14040,AAH15581,AAH27475,AAH71866,AAH94813,Q6IPL6,Q6PJG9,Q6PK41,Q7L3C2,BAD92242 Hs.209979,Hs.714189 FIGLER6|MGC3103|SALM3|SALM3. fibronectin type III, immunoglobulin and leucine rich repeat domains 6|leucine-rich repeat and fibronectin type-III domain-containing protein 4 protein-coding 1319662 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 1580863 16828986,18029348,16344560,14702039,12477932,20379614,20410109 145581 NM_152447,AL109662,AL121821,AL138498,CH471078,AK055365,AK096627,AK299632,AL832129,AW013887,BC043165,DA096504 NP_689660,EAW65799,BAB70910,BAG53340,BAG61560,AAH43165,Q96NI6 Hs.136893 C14orf146|DKFZp686G0210|FIGLER8|FLJ30803|SALM5 fibronectin type III, immunoglobulin and leucine rich repeat domains 8|leucine-rich repeat and fibronectin type-III domain-containing protein 5 protein-coding 1349039 LRG1 leucine-rich alpha-2-glycoprotein 1 The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM] 1580863 18029348,12223515,14718574,3856868,19324010,17583700,17194537,16740002,16699948,16335952,15489334,15221005,14760718,12477932,11801638,19851871,20442399,17207965 116844 NM_052972,AC011498,CH471139,AB073607,AF403428,AK027382,AK303861,AK314506,BC034389,BC070198,CR592045,CR598914,CR613381 NP_443204,EAW69211,BAD38644,AAK95527,BAG51312,BAG64800,BAG37106,AAH34389,AAH70198,P02750,Q68CK4,ADQ31727 Hs.655559 HMFT1766|LRG 1300008B03Rik|2310031E04Rik|leucine rich alpha 2 glycoprotein|leucine-rich alpha-2-glycoprotein protein-coding 1603904 LRGUK leucine-rich repeats and guanylate kinase domain containing 18498660,14702039,12690205,12477932,20379614 136332 NM_144648,AC008154,AC018646,CH236950,CH471070,AK057348,BC038800,BC104897,BC104899 NP_653249,EAL24072,EAW83807,BAB71441,AAI04898,AAI04900,Q96M69 Hs.149774 FLJ32786 leucine-rich repeat and guanylate kinase domain-containing protein protein-coding 1315602 LRIG1 leucine-rich repeats and immunoglobulin-like domains 1 18922900,18542056,18037903,17851870,17624990,17178829,16877544,16168117,15489334,15345710,15282549,14520461,12684867,12477932,12234026,12067728,11414704,8798419,19300910,19490591,20379614,21076409 26018 AC092034,AC099665,AC126122,CH471055,AB050468,AF381545,AK126745,AK294984,AK314103,AL117666,AY730707,BC014276,BC071561,BC140907,CR626564,NM_015541 NP_056356,EAW65452,EAW65453,BAB40659,AAK62357,BAG54369,BAH11940,CAB56036,AAU44786,AAH14276,AAH71561,AAI40908,Q5XWD3,Q96JA1 Hs.518055 DKFZp586O1624|LIG-1|LIG1 leucine-rich repeat protein LRIG1|leucine-rich repeats and immunoglobulin-like domains protein 1|ortholog of mouse integral membrane glycoprotein LIG-1 protein-coding 1319957 LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 1580863 18037903,15592455,15203213,15145052,14702039,12477932,9872452,18992012,20446891 9860 NM_014813,AL357055,CH471122,AB018349,AK074825,AK123606,AK291031,AL161998,BC017961,BC117368,BC117370,CR936669 NP_055628,CAH73254,EAW56556,EAW56557,BAA34526,BAG52009,BAG53920,BAF83720,CAB82328,AAI17369,AAI17371,O94898 Hs.448972,Hs.696605 DKFZp451C181|KIAA0806|LIG-2|LIG2 LIG-2|leucine-rich repeats and immunoglobulin-like domains protein 2 protein-coding 1347856 LRIG3 leucine-rich repeats and immunoglobulin-like domains 3 19216216,19200647,18037903,17393120,16532360,15203213,14702039,12975309,12477932,19448407,20379614,20445134,20446891 121227 NM_153377,NM_001136051,AC078963,CH471054,AK074921,AK130083,AK292857,AK301162,AL833710,AY358288,AY358295,AY505340,BC012380,BC126169,BC126171,BC143960 NP_700356,NP_001129523,EAW97094,EAW97095,BAC11295,BAF85546,BAG62752,AAQ88655,AAQ88662,AAR98629,AAI26170,AAI26172,Q6UXM1 Hs.253736 FLJ26573|FLJ90440|KIAA3016|LIG3 LIG-3|leucine-rich repeats and immunoglobulin-like domains protein 3 protein-coding 736558 LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 633658,1580863 17081983,10777785,20800603,16385451,20237496 633658 26103 NM_015613,AC022389,CH471142,AB031547,AL080175 NP_056428,EAW80359,BAA95681,CAB45761,Q9P2V4,AAI40297 Hs.226000 DKFZp434K091|FIGLER9|LRRC21|PAL fibronectin type III, immunoglobulin and leucine rich repeat domains 9|leucine rich repeat containing 21|leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1|leucine-rich repeat-containing protein 21|photoreceptor-associated LRR superfamily protein|retina-specific protein PAL protein-coding 1352534 LRIT2 leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 20237496,20379614,12477932 340745 NM_001017924,AC022389,AC022394,AL603756,CH471142,BC140765,BC144475,BX648524 NP_001017924,EAW80360,AAI40766,AAI44476,A6NDA9 Hs.450425 LRRC22 leucine rich repeat containing 22|leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2|leucine-rich repeat-containing protein 22 protein-coding 1605227 LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 12477932,8889548,20332099 345193 BC104037,BM665581,DN994055,NM_198506,AC005509,CH471057,AK126648 BAC86628,AAI04038,Q3SXY7,NP_940908,EAX06256 Hs.308127 FIGLER4|FLJ44691|MGC120618 fibronectin type III, immunoglobulin and leucine rich repeat domains 4|leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 protein-coding 1343006 LRMP lymphoid-restricted membrane protein The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq] 1580863 18029348,18299280,16410263,15489334,12477932,9314557,8889548,20936779,8798562,8021504,19789190,20237496,20379614,20453000,20639392 4033 NM_006152,AC023510,CH471094,AI949664,AK303103,AK303256,AW408383,BC029391,BC100277,BC126417,BC144164,BC144165,BC144170,BG505192,BM466207,BQ220483,BQ420905,BU679233,CR601375,U10485 NP_006143,EAW96503,EAW96504,EAW96505,BAG64212,BAG64339,AAH29391,AAI26418,AAA21604,Q12912,ADR83025 Hs.124922 JAW1 lymphoid-restricted membrane protein|protein Jaw1 protein-coding 1316786 LRP1 low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) 1625030,1581910,1581921,1625022,1581913,1625012,1358747,1581911,1580863 20568118,19251705,19176371,19105203,19036715,19008962,18990694,18941243,18940800,18834984,18706476,18685438,18683150,18653767,18648652,18489712,18381291,18373737,18321860,18317248,18288927,18281370,18277139,18231792,18194421,18166789,18156630,18037995,17974965,17942912,17908054,17889283,17711877,17709443,17694066,17620659,17570828,17203175,17155964,17124247,17012232,16956829,16929535,16839343,16821592,16807059,16697011,16606588,16567404,16459332,16407289,16402284,16362633,16335952,16328515,16175004,16167883,16102056,16088940,16040006,15944146,15925094,15863833,15800028,15772078,15769472,15749709,15705932,15705569,15647823,15634227,15591119,15328156,15294142,15288502,15272003,15231748,15226301,15135046,15131125,15048651,15044004,15001579,14991768,14980518,14739301,14702039,14699139,14645246,14597676,14593097,14585398,12960961,12888553,12857755,12821648,12807892,12793904,12789267,12750160,12732394,12713657,12672816,12637503,12555245,12531796,12522212,12522143,12477932,12473559,12417024,12412500,12402342,12394648,12393177,12212791,12194978,12169628,12069755,11992244,11931574,11907044,11867643,11861214,11854294,11823454,11729193,11720768,11705989,11600564,11560994,11479307,11436125,11421580,11359936,11279011,11248808,11158305,11100124,11076057,11006321,10827173,10772929,10747918,10652313,7989348,7961982,7721852,7543026,7534747,7510694,7508685,2597675,2548950,2112085,1718973,1702392,1698775,1502153,8546712,8307199,1464627,1423505,1377168,1374383,1281473,16697675,15264223,7775583,11247302,10632583,10608878,10514495,10471328,10318830,9837937,9820815,9804823,9782078,9295345,9252371,9051770,9045716,9045712,8806749,8703036,20716178,20685197,18635818,3266596,2779654,10880251,19446849,19420105,19393132,19383717,19336475,19299462,19913121,20628086,20637261,17326667,19439404,19615732,19631509,19664312,19665999,19684401,19795391,19815552,19823686,19885591,19948975,19968964,20048078,20101615,20167577,20220145,20381197,20468060,20535486,8626514,20472562,20558745,20610799,20644732,21054788 1625030,1581910,1581921,1625022,1581913,1625012,1358747,1581911 4035 NM_002332,AC023237,AC137628,AC137834,AF058427,CH471054,DQ314873,X15424,Y18524,Y18525,AB209498,AF370375,AK122840,BC021204,BC045107,BC052593,BC072015,BU502641,X13916,X55077,NG_016444 NP_002323,AAC64265,EAW96990,EAW96991,ABC40732,CAA33464,CAD57169,CAA77211,BAD92735,AAQ15211,AAH21204,AAH45107,AAH52593,AAH72015,CAA32112,CAA38905,Q07954,Q59FG2,Q6LAF4,Q6LBN5,Q71RG2,Q7Z7K9,Q86SW0 Hs.162757 A2MR|APOER|APR|CD91|FLJ16451|IGFBP3R|LRP|MGC88725|TGFBR5 LRP-1|TbetaR-V/LRP-1/IGFBP-3 receptor|alpha-2-macroglobulin receptor|apolipoprotein E receptor|prolow-density lipoprotein receptor-related protein 1|type V tgf-beta receptor protein-coding 1321391 LRP10 low density lipoprotein receptor-related protein 10 15498874,15489334,12975309,12766061,12477932,11123907,9110174,8889548,8619474,15101818,20093106 26020 AL135998,CH471078,AF131760,AF172816,AF177336,AK291030,AL080164,AL110149,AL834518,AY358399,BC000424,BC018816,BC064901,BC080648,BC088378,BC113714,BC113716,BG699535,BX161500,CD677124,CF125793,CR457151,CR598563,CR618984,CR624152,CR626435,NM_014045 NP_054764,EAW66232,EAW66233,EAW66234,EAW66235,AAD20037,AAQ13610,AAG17980,BAF83719,CAB45753,CAD39174,AAQ88765,AAH64901,AAH80648,AAH88378,AAI13715,AAI13717,CAD61944,CAG33432,Q5I0F9,Q66K21,Q6IAK3,Q7Z4F1 Hs.525232 DKFZp564C1940|LRP9|MGC142274|MGC142276|MGC8675|MST087|MSTP087 LRP-10|low-density lipoprotein receptor-related protein 10 protein-coding 1318469 LRP11 low density lipoprotein receptor-related protein 11 15489334,14702039,14574404,12477932,9373149,8125298 84918 NM_032832,AL355312,CH471051,AK027641,AK223134,AK299599,BC025239,BC043141,N91459 NP_116221,CAH72865,CAH72866,EAW47784,EAW47785,BAB55257,BAG61530,AAH25239,AAH43141,Q86VZ4 Hs.408355 FLJ14735|MANSC3|MGC39092|bA350J20.3 LRP-11|low-density lipoprotein receptor-related protein 11 protein-coding 1312675 LRP12 low density lipoprotein-related protein 12 This gene was identified by its differential expression in cancer cells. The product of this gene is predicted to be a transmembrane protein. The level of this protein was found to be lower in tumor derived cell lines compared to normal cells. This gene was thus proposed to be a candidate tumor suppressor gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 12809483,9927190,15489334,14702039,14676824,12477932,9921901,18029348 29967 CR749434,NM_013437,NM_001135703,AC087370,AC090827,AP002847,CH471060,CS265759,AB208957,AF064841,AF166350,AK022991,AK289752,AK299374,AL698796,BC017381,BC032109,AI828757,AK126348,DC372924 CAH18272,Q59H02,Q68DE8,Q9Y561,ABM83249,ABM86451,NP_038465,NP_001129175,EAW91895,EAW91896,EAW91897,EAW91898,CAJ78400,BAD92194,AAD44360,BAF82441,BAG61364,AAH32109,BAG54310 Hs.600630,Hs.715867 DKFZp781F1053|FLJ12929|ST7 low-density lipoprotein receptor-related protein 12|suppressor of tumorigenicity 7 protein protein-coding 1314617 LRP1B low density lipoprotein-related protein 1B (deleted in tumors) LRP1B belongs to the low density lipoprotein (LDL) receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands (Liu et al., 2001 [PubMed 11384978]).[supplied by OMIM] 1580863 10766186,19367585,17227771,16918994,16095885,15963947,15172977,15166012,15126508,14702039,12194987,12004004,11384978,11031110,20095042,20379614,20932654,20935630,21102462,20395239 53353 AF283381,AF283382,AF283383,AF283384,AF283385,AF283386,AF283387,AF283388,AF283389,AF283390,AF283391,AF283392,AF283393,AF283394,AF283395,AF283396,AF283397,AF283398,AF283399,AF283400,AF283401,AF283402,AF283403,AF283404,AF283405,AF283406,AF283407,AF283408,AF283409,AF283410,AF283411,AF283412,AF283414,AF283415,CH471058,AB209707,AF176832,AK054663,AF283416,AC010740,AC012003,AC012353,AC068195,AC068287,AC068943,AC073319,AC078882,AC079585,AC087056,AC092156,AC092575,AC093039,AC093859,AC108036,AC110087,AC110770,AC117947,AF283327,AF283328,AF283329,AF283330,AF283331,AF283332,AF283333,AF283334,AF283335,AF283336,AF283337,AF283338,AF283339,AF283340,AF283341,AF283342,AF283343,AF283344,AF283345,AF283346,AF283347,AF283348,AF283349,AF283350,AF283351,AF283352,AF283353,AF283354,AF283355,AF283356,AF283357,AF283358,AF283359,AF283360,AF283361,AF283362,AF283363,AF283364,AF283366,AF283367,AF283368,AF283369,AF283370,AF283371,AF283372,AF283373,AF283374,AF283376,AF283377,AF283378,AF283379,AF283380,NM_018557 AAL38110,AAL38111,AAL38112,EAX11602,BAD92944,AAF70379,BAB70786,Q4ZFV5,Q4ZG53,Q53QM8,Q53QP5,Q53RA0,Q53RG4,Q53RL0,Q53S26,Q53S73,Q53S76,Q53TB8,Q580W7,Q59EV4,Q8WY26,Q8WY27,Q8WY28,Q96NT6,Q9NZR2,NP_061027,AAY14689,AAX88846,AAX93243,AAY24318,AAX93075,AAX93103,AAY15024,AAX81990,AAX88911,AAX93208,AAY24167,AAX88968,AAL38107,AAL38108,AAL38109 Hs.656461 LRP-DIT|LRPDIT LRP-1B|LRP-deleted in tumors|low density lipoprotein receptor related protein-deleted in tumor|low density lipoprotein-related protein 1B (deleted in tumors)|low-density lipoprotein receptor-related protein 1B|low-density lipoprotein receptor-related protein-deleted in tumor protein-coding 68599 LRP2 low density lipoprotein-related protein 2 The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR). 1641843,1641827,1641836,1641842,1641839,1641847,1580863 9773776,14528014,7768901,2786251,18791690,18685438,18559602,18448595,18174661,18070591,17979745,17632512,17555532,17457342,16828734,16713569,16344560,16174284,15670845,15134832,14657389,12879166,12768436,12723989,12713445,12707383,12508107,12107412,11994745,11912251,11717447,11595644,11421580,11278724,11274227,11158855,11095640,10982792,10827173,10772929,10769163,10753646,10364184,10330424,10203351,10073957,9837937,9727058,9655248,9492085,9334227,9071320,8898021,8710893,8706697,8344937,8187828,7959795,7686151,7657789,7579068,7512726,1382088,12169628,7775583,15583024,15951480,16908842,17474147,19940034,20031551,20038220,20052685,20379614,20468071,20139978,21079607,20800603,20971101,19913121,20628086 1641843,1641827,1641836,1641842,1641839,1641847 4036 DA200673,NM_004525,DA339827,DA401915,S73145,U04441,U33837,NG_012634,AC007556,AC008178,AF065440,CH471058,AK295005,AK302843,AY265357,AY265358,CD673312 NP_004516,AAB30825,AAB02882,AAB41649,P98164,Q4ZG84,Q53TL0,Q7Z5C0,Q7Z5C1,Q9NP34,AAX88965,AAY24266,AAC17129,EAX11280,BAG58066,BAG64033,AAP88585,AAP88586 Hs.657729 DBS|GP330|gp330 Heymann nephritis antigen homolog|LRP-2|calcium sensor protein|glycoprotein 330|low density lipoprotein receptor-related protein 2|low-density lipoprotein receptor-related protein 2|megalin protein-coding 1601755 LRP2BP LRP2 binding protein 12508107,15809689,12477932,10718198,19366958,19577669 55805 NM_018409,AC073344,CH471056,AB037746,AK126913,AL161975,BC150161,BC152444 NP_060879,EAX04649,EAX04650,BAA92563,BAG54395,CAB82313,AAI50162,AAI52445,Q9P2M1 Hs.558513 DKFZp761O0113|FLJ44965 LRP2-binding protein|OTTHUMP00000218253|OTTHUMP00000218254|megBP|megalin-binding protein protein-coding 733839 LRP3 low density lipoprotein receptor-related protein 3 633319,1580863 9693042,16344560,16303743,15489334,14702039,12477932,11390366,8889548,7959795 633319 4037 NM_002333,AC008738,AB009462,AF085860,AK074751,AK126750,AK129963,AK295505,AK296536,AK316314,BC007408,BU739456,CR602048,DA496540,DR002806 NP_002324,BAA32330,BAG51998,BAC85262,BAG58424,BAG59164,BAH14685,AAH07408,O75074,ABW03838 Hs.515340 105 kDa low-density lipoprotein receptor-related protein|LRP-3|hLRp105|low-density lipoprotein receptor-related protein 3 protein-coding 731744 LRP4 low density lipoprotein receptor-related protein 4 68762,1580863 19079262,16554811,16344560,15489334,12477932,12421765,9693030,16517118,20005200,20381006,20554715 68762 4038 NM_002334,AC021573,CH471064,AB011540,AB084910,AB231861,AK027175,BC037360,BC041048,BC136667,BC136668,DA799511,DB061460,BQ446811,NG_021394 NP_002325,EAW67974,EAW67975,BAA32468,BAD83615,BAE19679,AAH37360,AAH41048,AAI36668,AAI36669,O75096 Hs.4930 CLSS|KIAA0816|LRP-4|LRP10|MEGF7 low-density lipoprotein receptor-related protein 4|multiple epidermal growth factor-like domains 7 protein-coding 1319617 LRP5 low density lipoprotein receptor-related protein 5 2293188,2293491,1599835,1625350,1580863 11401438,9714764,10049586,9790987,19506792,19453261,19336475,19233690,19225709,19177549,19158955,19148563,19107203,19023643,18932002,18825883,18721193,18684085,18676680,18588671,18524778,18521528,18502762,18493104,18455228,18418639,18406176,18349089,18285546,18073493,18058054,18044981,18026682,17972053,17953969,17700537,17680723,17505772,17307038,17306638,17276019,17241106,17229572,17223614,17202888,17137849,17087607,17086708,17052975,17002572,16958596,16956801,16772034,16754270,16723389,16679074,16631011,16622736,16613987,16513652,16355283,16234968,16168727,16115379,15981244,15979013,15923613,15908424,15824861,15824851,15781005,15777745,15619672,15355556,15346351,15231748,15221492,15201508,15084453,15077203,15024691,14735475,14731402,14727154,12817748,12700977,12581525,12579474,12509515,12477932,12054167,12015390,11793484,11741193,11719191,11516963,11448771,11336703,9831343,9199553,8659519,7775583,18632848,20045498,20846389,20630166,19746449,19147944,19170196,19571442,19625176,19629617,19673927,19692168,19789208,19801982,19810105,19851296,19898734,19948975,20034086,20101398,20141633,20146170,20198315,20200978,15035989,17955262,20200960,18350154,20926594,20953208,20960157,20961463,19913121,20534768,20554715,20613673,20628086 2293188,2293491,1599835,1625350 4041 NM_002335,AF283320,AF283321,AP000807,AP002813,CH471076,AA279383,AA953315,AB017498,AF064548,AF077820,AF088027,BC098397,BC150595,NG_015835 NP_002326,AAK52433,EAW74705,EAW74706,BAA33051,AAC36467,AAC72791,AAI50596,O75197,Q9UES7 Hs.6347 BMND1|EVR1|EVR4|HBM|LR3|LRP7|OPPG|OPS|OPTA1|VBCH2 LRP-5|low density lipoprotein receptor-related protein 7|low-density lipoprotein receptor-related protein 5 1643405 BMD9_H protein-coding 1606195 LRP5L low density lipoprotein receptor-related protein 5-like 14702039,12477932,7566098 91355 NM_182492,NM_001135772,AL022324,CH471095,AA307886,AK125903,AL137651,BC091519,BC137460,BC137463,BC139736 NP_872298,NP_001129244,CAQ06630,CAQ06631,EAW59690,AAI37461,AAI37464,AAI39737,A4QPB2 Hs.634058 DKFZp434O0213 LRP-5-like|OTTHUMP00000198679|low-density lipoprotein receptor-related protein 5-like protein protein-coding 1312373 LRP6 low density lipoprotein receptor-related protein 6 The LRP6 gene encodes a member of the low density lipoprotein receptor (LDLR) gene family, which consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. LDLR proteins are comprised of the same basic structural motifs: an extracellular domain that contains LDLR binding repeats and EGF repeats with associated spacer domains containing the YWTD motif; a single transmembrane-spanning domain; and a C-terminal cytoplasmic domain that generally contains at least 1 copy of the NPXY motif (Brown et al., 1998 [PubMed 9704021]). LRP6 and LRP5 (MIM 603506) function as coreceptors for WNT (MIM 164820) ligands and thus play a role in WNT signaling, which is important in a wide variety of biologic processes during pre- and postnatal life in invertebrates and vertebrates (Kokubu et al., 2004 [PubMed 15469977]).[supplied by OMIM] 2293188,2298725,2298724,1580863,4110127 20974802,16263759,16564009,16543246,9704021,19453261,19339249,19293931,19107203,19015224,18981475,18838381,18772438,18717822,18676680,18606139,18524778,18505732,18502762,18493104,18406176,18378904,18362152,18350154,18083125,18077588,17804805,17765217,17698587,17569865,17517621,17376403,17332414,17326769,16989816,16513652,16384981,16365045,16355283,15908424,15516984,15489334,15469977,15342556,15271658,15084453,14739301,14702039,12897152,12857724,12477932,11742004,11448771,11357136,11029007,10036184,8889549,12581525,16890161,20388731,20676368,20846389,20460648,18215320,19170196,19477926,19625176,19667113,19692168,19711366,19801552,19833493,19881541,19898734,20053636,20057906,20093360,20137080,20194742,20351274,20390408,20543981,20926594,19913121,20628086 2293188,2298724,4110127 4040 NM_002336,AC007537,AC007621,AF090131,CH471094,AA126261,AB209683,AF074264,AK074543,AK074902,AK094666,AK124760,BC029941,BC117136,BC126405,BC143725,BP229563,NG_016168 NP_002327,AAD21410,EAW96253,BAD92920,AAC33006,BAG51971,BAG52027,AAI17137,AAI26406,AAI43726,O75581,Q59EX8,Q9UQH4 Hs.584775,Hs.658913 ADCAD2|FLJ90062|FLJ90421 LRP-6|low-density lipoprotein receptor-related protein 6 protein-coding 1313932 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor This gene encodes an apolipoprotein E receptor, a member of the low density lipoprotein receptor (LDLR) family. Apolipoprotein E is a small lipophilic plasma protein and a component of lipoproteins such as chylomicron remnants, very low density lipoprotein (VLDL), and high density lipoprotein (HDL). The apolipoprotein E receptor is involved in cellular recognition and internalization of these lipoproteins. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq] 2306125,2306124,1358346,1358468 19661487,19720620,19948739,20331378,8626535,11152697,10380922,11369809,19439088,19282863,19116273,19056482,18592168,18489431,18089558,18039658,17847002,17614163,17553992,17470198,16951405,16642433,16481437,16332682,16034672,15950758,15489334,15313836,14732905,14702039,12950167,12899622,12871934,12824284,12807892,12681505,12670700,12621059,12477932,12426372,12399018,12169628,12167620,10571240,10508213,10231386,10218790,9079678,10827173,20208369,19913121,20628086,20493228,15459198 2306125,2306124,1358346,1358468 7804 NM_033300,NM_017522,NM_001018054,NM_004631,NG_011517,AL355483,AL606760,CH471059,D86407,AA775280,AK096482,AK122887,BC006443,BC051836,BM477111,CF593917,D50678,Z75190 NP_150643,NP_059992,NP_001018064,NP_004622,CAI22780,CAI22781,CAI22782,CAI18908,CAI18909,CAI18910,EAX06740,EAX06741,EAX06742,EAX06743,EAX06744,EAX06745,BAA21824,BAA21825,BAG53302,AAH06443,AAH51836,BAA09328,CAA99509,Q14114 Hs.726256 APOER2|HSZ75190|MCI1 LRP-8|apolipoprotein E receptor 2|low-density lipoprotein receptor-related protein 8 protein-coding 1354477 LRPAP1 low density lipoprotein receptor-related protein associated protein 1 1641936,1641937,1358749,1581921,1581922,1580863 20936779,9782079,7774585,2229028,3266596,1712782,16263759,8083232,8654360,18721259,18494379,18075286,18055545,17987404,17913606,17536759,17123336,16837242,16704534,16650578,16517593,16344560,16175004,15815621,15489334,15213425,14674767,12899622,12637503,12477932,12394648,12193592,11992244,11793025,11557679,11425005,11384978,11006321,10747918,10571241,9373149,9207124,9013611,9010785,8940146,8125298,7959795,7822276,7789983,7592875,7535288,7512726,7510321,1718973,1400426,1374383,11912251,16798736,10783161,11167825,16169070,19913121,20628086,15342917,18029348,19826010,19851296,20198315,20403997,20637261,21062971 1641936,1641937,1358749,1581921,1581922 4043 AF035767,AL590235,CH471131,CS101462,U06976,AK222504,AK222527,AK292321,AK310598,AK310851,AK311600,AK312698,BC105074,BC112067,BX647984,CR591442,CR591537,CR595839,CR596948,CR597384,CR599568,CR601788,CR603821,CR603866,CR604363,CR604735,CR605976,CR606004,CR607197,CR607263,CR607312,CR611476,CR613053,CR614498,CR616455,CR617514,CR618610,CR619388,CR619887,NM_002337,CR621877,CR624552,CR625232,CR625424,CR625692,CR626102,DB035408,M63959 NP_002328,AAC67373,CAM21451,EAW82460,EAW82461,CAJ00723,AAA87889,BAD96224,BAD96247,BAF85010,BAG35576,AAI05075,AAI12068,AAA51553,P30533 Hs.533136 A2MRAP|A2RAP|HBP44|MGC138272|MRAP|RAP alpha-2-MRAP|alpha-2-macroglobulin receptor-associated protein|alpha-2-macroglobulin receptor-associated protein 1|lipoprotein receptor associated protein|low density lipoprotein receptor-related protein-associated protein 1|low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) protein-coding 1315270 LRPPRC leucine-rich PPR-motif containing This gene encodes a protein that is leucine-rich and is thought to play a role in regulating the interaction of the cytoskeleton with a variety of cellular processes. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene. [provided by RefSeq] 1600674,1600676,1580863 20308539,20562859,12832482,12762840,17050673,17353931,18063578,15907802,15272088,14743216,12529507,12477932,11827465,11464862,9110174,8619474,8012652,20200222,20633537,20843780,20877624,19615732,20201926,20220140 1600674,1600676 10128 NM_133259,NG_008247,AC108476,AC127379,CH471053,AF052133,AK125781,AK130686,AK290016,AK299869,AK308348,AY289212,BC010282,BC026034,BC038181,BC050311,BC130285,BQ021667,M92439,HQ205426,HQ205427,HQ205428,HQ205429,HQ205430,HQ205431,HQ205432,HQ205433,HQ205434,HQ205435,HQ205436,HQ205437,HQ205438,HQ205439,HQ205440,HQ205441,HQ205442,HQ205443,HQ205444,HQ205445,HQ205446,HQ205447,HQ205448,HQ205449,HQ205450,HQ205451,HQ205452,HQ205453,HQ205454,HQ205455,HQ205456,HQ205457,HQ205458,HQ205459,HQ205460,HQ205461,HQ205462,HQ205463,HQ205464,HQ205465 NP_573566,AAY24012,AAY24043,EAX00284,BAC86287,BAF82705,BAG61722,AAP41922,AAH10282,AAH26034,AAH50311,AAI30286,AAA67549,P42704,ADP90894,ADP90895,ADP90896,ADP90897,ADP90898,ADP90899,ADP90900,ADP90901,ADP90902,ADP90903,ADP90904,ADP90905,ADP90906,ADP90907,ADP90908,ADP90909,ADP90910,ADP90911,ADP90912,ADP90913,ADP90914,ADP90915,ADP90916,ADP90917,ADP90918,ADP90919,ADP90920,ADP90921,ADP90922,ADP90923,ADP90924,ADP90925,ADP90926,ADP90927,ADP90928,ADP90929,ADP90930,ADP90931,ADP90932,ADP90933 Hs.368084 CLONE-23970|GP130|LRP130|LSFC 130 kDa leucine-rich protein|LRP 130|leucine-rich PPR motif-containing protein, mitochondrial|mitochondrial leucine-rich PPR motif-containing protein protein-coding 1318108 LRRC1 leucine rich repeat containing 1 1580863 19596235,16344560,15489334,14702039,12477932,12200217,11440998,16169070,18029348 55227 NM_018214,AL033384,AL513211,CH471081,AF332199,AF359380,AJ420513,AK001637,AK021896,AK292248,AU119761,BC003193 NP_060684,CAI21666,CAI17358,CAI17359,EAX04429,EAX04430,AAK69623,AAK72246,BAA91801,BAB13929,BAF84937,AAH03193,Q5T0G3,Q9BTT6,ABW03439 Hs.606493,Hs.646997 FLJ10775|FLJ11834|LANO|dJ523E19.1 LANO adapter protein|LAP (leucine-rich repeats and PDZ) and no PDZ protein|LAP and no PDZ protein|leucine-rich repeat-containing 1|leucine-rich repeat-containing protein 1 protein-coding 1348592 LRRC10 leucine rich repeat containing 10 18391951,15489334,14751244,14702039,12477932 376132 NM_201550,AC018921,CH471054,AK095935,AK123908,BC090881,BC106892,BC106893 NP_963844,EAW97231,BAC85724,AAH90881,AAI06893,AAI06894,Q3B873,Q3KP57,Q5BKY1 Hs.448708 HRLRRP|LRRC10A|MGC125812 leucine-rich repeat-containing protein 10 protein-coding 3208116 LRRC10B leucine rich repeat containing 10B 16554811 390205 AP003108,AW137416,NM_001145077 A6NIK2,NP_001138549 Hs.441122 LRRC10-like protein ENSP00000367315|leucine rich repeat containing 10-like|leucine-rich repeat-containing protein 10B protein-coding 1348401 LRRC14 leucine rich repeat containing 14 15489334,12477932,7584026,19615732 9684 BU634522,NM_014665,AC084125,CH471162,AK289473,BC011377,CR625635,D25216 NP_055480,EAW82066,EAW82067,EAW82068,EAW82069,BAF82162,AAH11377,BAA04946,Q15048,ACT64568,ACT64569 Hs.459391 KIAA0014|LRRC14A leucine-rich repeat-containing protein 14 protein-coding 3418715 LRRC14B leucine rich repeat containing 14B 389257 AC021087,NM_001080478 A6NHZ5,AAI56516,AAI72511,NP_001073947 Hs.683662 leucine-rich repeat-containing protein 14-like|leucine-rich repeat-containing protein 14B protein-coding 733250 LRRC15 leucine rich repeat containing 15 1580863 18385238,16641997,16098915,14702039,12923058,12477932,11785964,17643375,19615732 131578 NM_130830,NM_001135057,AC125362,AC174158,AB071037,AK022342,AK125112,BC101064,BC101065,BK001325,BQ183882,CH471052 NP_570843,NP_001128529,BAB84587,BAG54146,AAI01065,AAI01066,DAA01740,Q495Q6,Q8TF66,EAW78054 Hs.288467 LIB OTTHUMP00000209125|hLib|leucine-rich repeat protein induced by beta amyloid|leucine-rich repeat protein induced by beta-amyloid|leucine-rich repeat protein induced by beta-amyloid homolog|leucine-rich repeat-containing protein 15 protein-coding 1315346 LRRC16A leucine rich repeat containing 16A 19084217,15302935,15146197,12477932,10737800,9373149,8125298,16712791,19503597,19846667,19861489,19890391,20162742,20162743,20379614,18029348,20800603,16054028 55604 NM_017640,AL022170,AL024509,AL160037,AI142012,AK000055,AK123817,AK125696,AK225208,BC040903,BC140770,BE765272,BF330246,BG978388,BQ423885,CB132825,CD691491,CN283219,CV330537,FJ009082,Y10210,Y10508,Y10514,Y10518,Y10519,Z83935,Z83950,NM_001173977 NP_060110,CAI21583,CAI21665,CAH72024,BAA90912,BAC85701,BAC86250,AAH40903,AAI40771,ACI49709,Q5VZK9,Q8IW66,AAI72272,AAI72573,NP_001167448 Hs.649550 CARMIL|CARMIL1|CARMIL1a|FLJ20048|FLJ43708|LRRC16|dJ501N12.1|dJ501N12.5 CARMIL homolog|capping protein, Arp2/3, and Myosin-I Linker homolog 1|leucine rich repeat containing 16|leucine-rich repeat-containing protein 16A protein-coding 1349280 LRRC16B leucine rich repeat containing 16B 16344560,15028280,12477932,10737800,19846667 90668 NM_138360,AL136295,AI017934,AI631690,AK074167,AL834197,BC008134,BG913168,BG977591,BU102125,DA121863,DT932621 NP_612369,BAB84993,CAD38886,AAH08134,Q8ND23 Hs.26135 C14orf121|CARMIL3|crml-1 leucine-rich repeat-containing protein 16B protein-coding 1344845 LRRC17 leucine rich repeat containing 17 19336404,16344560,15489334,12975309,12853948,12477932,9373149,8982252,8125298 10234 NM_005824,NM_001031692,AC005250,AC073127,CH471070,AI961444,AK225701,AK226021,AK290305,AY358889,BC027903,DA749917,U32907 NP_005815,NP_001026862,AAS07483,EAW83307,EAW83308,BAF82994,AAQ89248,AAH27903,AAB41565,Q8N6Y2,ACE87571,ACE86884 Hs.567412 P37NB 37 kDa leucine-rich repeat (LRR) protein|leucine-rich repeat-containing protein 17 protein-coding 1352045 LRRC18 leucine rich repeat containing 18 19838193,17207965,17903303,16189514,15707978,15489334,12975309,12477932 474354 AC060234,AY358137,BC036722,NM_001006939 ADQ32476,NP_001006940,AAQ88504,AAH36722,Q8N456 Hs.202438 MGC34773|UNQ933|UNQ9338|VKGE9338 leucine-rich repeat-containing protein 18 protein-coding 1350270 LRRC19 leucine rich repeat containing 19 1580863 15489334,14702039,12477932,9373149,19679103,8125298 64922 NM_022901,AL355432,CH471071,AK024955,AK025070,AK222987,BC056252,BC126156,BC136298,BF431646 NP_075052,EAW58574,BAB15042,BAD96707,AAI26157,AAI36299,Q53GE4,Q9H756,ADR82971 Hs.128071 FLJ21302 leucine-rich repeat-containing protein 19 protein-coding 1323318 LRRC2 leucine rich repeat containing 2 20379614,16344560,15489334,12477932,11896456,9373149,8125298,14702039 79442 NG_021214,NM_024512,AC098613,AC104304,CH471055,AJ308569,AK057808,AK223440,AK314658,AK315636,BC029118,DA342323 NP_078788,EAW64769,EAW64770,EAW64771,CAC33442,BAB71585,BAD97160,BAG37217,BAG38004,AAH29118,Q53F49,Q9BYS8 Hs.657345 leucine-rich repeat-containing protein 2 protein-coding 1602483 LRRC20 leucine rich repeat containing 20 16385451,20379614,17207965,15489334,15164054,14702039,12975309,12477932,20659327,16341674 55222 CR590887,CR618443,NM_018239,NM_018205,NM_207119,AC022532,AL355138,CH471083,AK001613,AK001706,AK094734,AL122117,AY358318,BC024001,BM788766,CF552977 ADQ32781,Q8TCA0,NP_060709,NP_060675,NP_997002,CAI12600,CAI12601,CAI12602,CAI12603,EAW54388,EAW54389,EAW54390,EAW54391,EAW54392,EAW54393,EAW54394,EAW54395,EAW54396,EAW54397,BAA91789,BAA91849,BAC04409,AAQ88684,AAH24001 Hs.7778 FLJ10751|FLJ10844 OTTHUMP00000019752|OTTHUMP00000035622|leucine-rich repeat-containing protein 20 protein-coding 1604054 LRRC23 leucine rich repeat containing 23 16344560,16341674,16030496,15489334,12477932,9373149,9074930,8889548,8723724,8125298,16712791 10233 NM_006992,NM_001135217,CH471116,U47924,AI524335,AK223535,AK292291,AK292367,AY834277,BC011980,BC014450,BC029858,BM714841,BM822373,CA444672,CB140563,CR590063,CR595324,DB027456,U72508,U72510,NM_201650 NP_964013,NP_008923,NP_001128689,EAW88712,EAW88713,EAW88714,EAW88715,EAW88716,AAB51319,BAD97255,BAF84980,BAF85056,AAV97885,AAH29858,AAC51638,Q53EV4,Q5MD59,ABM82277,ABW03381 Hs.155586 LRPB7 B7|OTTHUMP00000210377|OTTHUMP00000210378|OTTHUMP00000210379|leucine-rich protein B7|leucine-rich repeat-containing protein 23 protein-coding 1605162 LRRC24 leucine rich repeat containing 24 15489334,12477932,8889548,7584026 441381 NM_001024678,AC084125,CH471162,AB178281,BC111067,BQ185133,CR607461,CR619484 NP_001019849,EAW82065,BAD97811,AAI11068,Q50LG9 Hs.715747 LRRC14OS|MGC111484 leucine-rich repeat-containing protein 24 protein-coding 1352396 LRRC25 leucine rich repeat containing 25 737633,1580863 14702039,12975309,12477932,12384430,17207965 737633 126364 NM_145256,AC008397,CH471106,AJ422148,AK095435,AY358151,BC025744,BC033825,BC053659,BC071640,BC093842,BI910095,CR593873 NP_660299,EAW84695,EAW84696,CAD19531,BAC04548,AAQ88518,AAH25744,AAH53659,AAH71640,AAH93842,Q8N386,Q8TAB8,ABM81850,ADQ31930 Hs.332156 FLJ38116|MAPA leucine-rich repeat-containing protein 25|monocyte and plasmacytoid activated molecule|monocyte and plasmacytoid-activated protein protein-coding 1603823 LRRC26 leucine rich repeat containing 26 19250639,16585525,16712791,12477932,20613726 389816 NM_001013653,AL929554,BC140911,CB160046,DN996987,DQ355157 ABC79623,Q2I0M4,NP_001013675,CAH72880,AAI40912 Hs.669977 CAPC|bA350O14.10 cytokeratin associated protein|cytokeratin-associated protein|cytokeratin-associated protein in cancer|leucine-rich repeat-containing protein 26 protein-coding 1318562 LRRC27 leucine rich repeat containing 27 16344560,15489334,15164054,14702039,12477932,11214970 80313 NM_030626,NM_001143759,NM_001143758,NM_001143757,NR_026559,AL096806,AL590105,CH471066,AB051461,AK091472,AK093250,AK097418,AK098652,AK295953,AK301422,AL512722,BC029902,BC050097,BC058159,BQ775276,BX117491,DA203895,DA658738,DC352688 NP_085129,NP_001137231,NP_001137230,NP_001137229,CAI13016,CAI13017,CAI13018,CAI13019,EAW49121,EAW49122,EAW49123,EAW49124,BAB21765,BAC04108,BAG53467,BAC05366,BAG58734,BAG62950,AAH50097,Q9C0I9 Hs.469002,Hs.119897 OTTHUMP00000020762|leucine-rich repeat-containing protein 27 protein-coding 1316267 LRRC28 leucine rich repeat containing 28 737633 17207965,15489334,14702039,12975309,12477932 737633 123355 AK293832,AK295161,AK296352,AY358082,BC019704,BC047306,CR606315,NM_144598,AC022819,AC037479,CH471101,AK091588,AK127177,AK292887,CR621786 ADQ33047,BAG57235,BAG58175,BAG59034,AAQ88449,AAH19704,AAH47306,Q86X40,Q8NB41,Q8WUS2,NP_653199,EAX02240,EAX02241,EAX02242,EAX02243,EAX02244,BAC03702,BAC86870,BAF85576 Hs.578684 FLJ34269|FLJ45242|MGC24976 leucine-rich repeat-containing protein 28 protein-coding 1353942 LRRC29 leucine rich repeat containing 29 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq] 15489334,14702039,12477932,10531037 26231 NM_001004055,NM_012163,AC040160,CH471092,AF176701,AK096101,AK298088,AK316602,BC018785,BI085522 NP_001004055,NP_036295,EAW83099,EAW83100,EAW83101,EAW83102,EAW83103,EAW83104,AAF03701,BAG53213,BAG60374,BAG38189,AAH18785,Q8WV35,ABM82922,ABM86112 Hs.461000 FBL9|FBXL9 F-box and leucine-rich repeat protein 9|F-box protein FBL9|F-box/LRR-repeat protein 9|OTTHUMP00000205611|OTTHUMP00000205612|OTTHUMP00000205613|OTTHUMP00000205614|leucine-rich repeat-containing protein 29 protein-coding 732363 LRRC3 leucine rich repeat containing 3 17474147,15489334,12975309,12477932,12036297 81543 BC064321,BC119648,BC119649,NM_030891,AP001065,CH471079,AB058646,AK127604,AY061857,AY358120 AAQ88487,AAI19649,AAI19650,Q6ZSA1,Q9BY71,NP_112153,EAX09425,BAB40229,BAC87053,AAL35741 Hs.326579 C21orf102 leucine-rich repeat-containing 3|leucine-rich repeat-containing protein 3 protein-coding 1343727 LRRC30 leucine rich repeat containing 30 339291 NM_001105581,AP005270 NP_001099051,A6NM36 Hs.647588 leucine-rich repeat-containing protein 30 protein-coding 1346329 LRRC31 leucine rich repeat containing 31 16344560,15489334,14702039,12975309,12477932 79782 BC143582,NM_024727,AC078795,CH471052,AK026912,AK097338,AY358138,BC117401,BC143569,DA967755 NP_079003,EAW78535,BAB15589,BAC05004,AAQ88505,AAI17402,AAI43570,Q6UY01,ADR83061 Hs.411295 FLJ23259|FLJ40019 leucine-rich repeat-containing protein 31 protein-coding 1319230 LRRC32 leucine rich repeat containing 32 This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq] 1580863 18628982,16344560,15489334,12800150,12477932,10737800,8840187,1543912,8180135,19651619,19666573,19750484,20237496 2615 NM_005512,NM_001128922,AP001189,CH471076,AK314971,BC052210,BC070079,BI010671,CA775494,CR618700,DA591993,Z24680,FB570994 NP_005503,NP_001122394,EAW75001,EAW75002,AAH52210,AAH70079,CAA80847,Q14392,CAR94995 Hs.151641 D11S833E|GARP OTTHUMP00000165068|OTTHUMP00000200860|garpin|glycoprotein A repetitions predominant|leucine-rich repeat-containing protein 32 protein-coding 1602040 LRRC33 leucine rich repeat containing 33 15489334,12975309,12477932 375387 NM_198565,AC055725,AY358322,BC034704,BC044233,CR619710 NP_940967,AAQ88688,AAH44233,Q86YC3 Hs.223296 GARPL1|MGC50789|UNQ3030 ELLP3030|leucine-rich repeat-containing protein 33 protein-coding 1604227 LRRC34 leucine rich repeat containing 34 15489334,14702039,12477932,20379614,8889548 151827 AK095125,AK130856,BC028610,BC032841,BC040162,CR606238,NM_153353,AC078795,CH471052,AK293661,AK295065,AK302466,CN479293,DB500348,NM_001172779,NM_001172780 EAW78539,EAW78540,EAW78541,EAW78542,BAG52989,AAH32841,Q8IZ02,NP_699184,EAW78537,EAW78538,BAG57108,BAG58113,BAG63756,NP_001166250,NP_001166251 Hs.591289 FLJ27346|MGC27085 leucine-rich repeat-containing protein 34 protein-coding 1605363 LRRC36 leucine rich repeat containing 36 15342556,14702039,12477932 55282 NM_018296,NM_001161575,AC009061,CH471092,AK001866,AK292311,AK297329,AK301766,AK309897,AK311487,AY313780,AY963267,BC018031,BC026156,BP294008,CR593753 NP_060766,NP_001155047,EAW83125,EAW83126,EAW83127,BAA91949,BAF85000,BAH12549,BAH13549,AAP81011,AAY46032,AAH26156,Q1X8D7,Q9NV11 Hs.125139 FLJ11004|RORBP70|XLHSRF2 ROR gamma binding protein 70|ROR gamma-binding protein 70|heat shock regulated 2|leucine-rich repeat-containing protein 36 protein-coding 1605100 LRRC37A leucine rich repeat containing 37A 16344560,15533724,15489334,14702039,12477932,9628581 9884 NM_014834,AC005829,AC139026,AC217777,BC040501,CR749232,DA397530,XM_003119443,XM_003119444,XM_003119445,XM_003119446 NP_055649,AAH40501,CAH18088,A6NMS7,XP_003119491,XP_003119492,XP_003119493,XP_003119494 Hs.579108 DKFZp686N1231|KIAA0563 OTTHUMP00000194770|OTTHUMP00000194771|leucine-rich repeat-containing protein 37A protein-coding 1602023 LRRC37A2 leucine rich repeat containing 37, member A2 16625196,14702039,12477932 474170 NM_001006607,AC138688,AK091733,AK126994,AW149940,AY386262,BC088375,BC144427,BC144428,BQ649697,AC138645 NP_001006608,BAG52406,AAR28083,AAI44428,AAI44429,A6NM11,Q5YKG5,AAI72235,AAI72554 Hs.646568 FLJ45049 c114 SLIT-like testicular protein|leucine-rich repeat-containing protein 37A2 protein-coding 1605801 LRRC37A3 leucine rich repeat containing 37, member A3 15489334,14702039,12477932,9628581 374819 AC103810,AB011135,AK091625,AK294371,AK299714,NM_199340,AK308554,AK315945,BC043145,BC048966,BC113643,BC117274 NP_955372,BAA25489,BAC03710,BAG57631,BAG61614,BAH14316,AAH43145,AAI13644,AAI17275,O60309 Hs.551962 FLJ34306|KIAA0563|LRRC37A|MGC41826|MGC57168 leucine-rich repeat-containing protein 37A3 protein-coding 1602879 LRRC37A4 leucine rich repeat containing 37, member A4 (pseudogene) 14702039,12477932 55073 NR_002940,AC091132,AK000982,BC041653,BC088374,BC107850 BAA91454,Q9NWC8,AAI07851,Q32Q44 Hs.675446,Hs.596756 FLJ10120|KIAA0563|MGC111480 pseudo 1606474 LRRC37B leucine rich repeat containing 37B 16625196,15236313,12477932,11468690,10843809,8889548,17632510,19291764 114659 NM_052888,AC090616,AJ314647,AK299772,AK302740,AK310287,AY386261,BC117373,BC143578,BC143581,BF979626,BM718301 NP_443120,CAC44536,BAG61655,BAG63955,AAR28082,AAI17374,AAI43582,Q17RC9,Q96QE4,ADR83284 Hs.514071 C66 SLIT-like testicular protein|leucine-rich repeat-containing protein 37B protein-coding 2289765 LRRC37B2 leucine rich repeat containing 37, member B2 11181995,16344560,16303743,15236313,12477932 147172 AK125981,CH471159,NR_015341,AC005562,AC011840,CQ783411,AI420621,AK075282,AK124001,AK124759,AL359623,AL713754,BC035414,BC042455,BC118647,DB024747 EAW51242,CAF86615,BAC11518,BAG53991,BAG54091,CAD28527,Q147U4 Hs.568209 DKFZp667M2411|FLJ43993|LRRC37B2 putative LRRC37B-like protein 2 pseudo 1602439 LRRC38 leucine rich repeat containing 38 12477932 126755 NM_001010847,AL603749,CH471167,BC016048,CR622769,AL354712 NP_001010847,CAH70436,EAW51689,AAH16048,Q5VT99 Hs.657356 RP4-597A16.1 leucine-rich repeat-containing protein 38 protein-coding 1606975 LRRC39 leucine rich repeat containing 39 20847312,16710414,16381901,15489336,15489334,14702039,12975309,12477932,11076863,20379614 127495 NM_144620,AL445928,CH471097,AK096892,AL833417,AY358131,BC009613,BC022420 NP_653221,CAH72253,CAH72254,EAW72965,EAW72966,EAW72967,EAW72968,EAW72969,BAG53394,AAQ88498,AAH09613,Q96DD0,CAL37579,CAL37984,ABM84416,ABM87433 Hs.44277 DKFZp313O1122|MGC14816 OTTHUMP00000012531|OTTHUMP00000012587|densin hlg|leucine-rich repeat-containing protein 39 protein-coding 1345434 LRRC3B leucine rich repeat containing 3B 19240061,18815942,18757430,18377727,16381901,15489336,15489334,12975309,12477932,11076863 116135 NM_052953,AC099754,AC114877,CH471055,AF396933,AY358282,BC040656,BC067784,BC087849 NP_443185,EAW64373,EAW64374,AAK84157,AAQ88649,AAH40656,AAH67784,AAH87849,Q96PB8,CAL37719,CAL37871,CAL38040,CAL38081,CAL38282,CAL38323,CAL38499,CAL38694 Hs.517868 LRP15|MGC102927 OTTHUMP00000208343|OTTHUMP00000208344|OTTHUMP00000209366|OTTHUMP00000209367|leucine-rich repeat protein LRP15|leucine-rich repeat-containing protein 3B protein-coding 1349330 LRRC4 leucine rich repeat containing 4 This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq] 1580863 12690205,18976507,17541939,16941076,16723503,16215635,16188120,16077900,15967442,15489334,14702039,14595443,12975309,12969517,12477932,10964959,8889548 64101 NM_022143,AC008039,CH236947,CH471070,AF196976,AI568859,AJ297858,AK172751,AK314047,AY358307,BC036685,BC111561,BC111745,BU682120 NP_071426,EAL24316,EAW83639,AAG28019,CAC82651,BAD18737,BAG36756,AAQ88674,AAI11562,AAI11746,Q9HBW1 Hs.655003 MGC133342|MGC133343|NAG14|NGL-2 OTTHUMP00000212282|OTTHUMP00000212283|OTTHUMP00000212284|brain tumor associated protein LRRC4|brain tumor-associated protein BAG|leucine-rich repeat-containing 4|leucine-rich repeat-containing protein 4|nasopharyngeal carcinoma-associated gene 14 protein|netrin-G2 ligand protein-coding 1601993 LRRC40 leucine rich repeat containing 40 16710414,15489334,14702039,12477932,9373149,8125298,16344560,17643375 55631 NM_017768,AL353771,CH471059,AK000338,AK022951,AK225337,AL162076,BC003407,BC008586,AI015897,DA310461 NP_060238,CAI22332,EAX06460,BAA91094,BAB14326,CAB82410,AAH03407,AAH08586,Q9H9A6 Hs.147836 FLJ20331|RP4-677H15.1|dJ677H15.1 leucine-rich repeat-containing protein 40 protein-coding 1607070 LRRC41 leucine rich repeat containing 41 17081983,16498413,16189514,15498874,15489334,14702039,12477932,11384984,9373149,8889548,8125298,16169070 10489 NM_006369,AL121602,AL122001,CH471059,AF370430,AK024051,AK125827,AK223420,AK291283,AK296436,AK297596,BC004953,BC092479,BC101522,BC101524,BM548142,BU155079,BX537366,CF125098,X86018 NP_006360,CAI22118,CAI21964,EAX06927,EAX06928,AAQ15266,BAB14801,BAC86308,BAD97140,BAF83972,BAG59091,BAG59981,AAH04953,AAH92479,AAI01523,AAI01525,CAD97609,CAA60013,Q15345,Q53F69,Q562F1,Q9H822 Hs.144941 MGC126571|MGC126573|MUF1|PP7759|RP4-636H5.2 MUF1 protein (MUF1)|elongin BC-interacting leucine-rich repeat protein|leucine-rich repeat-containing protein 41|protein Muf1 protein-coding 1604548 LRRC42 leucine rich repeat containing 42 16303743,15489334,14702039,12477932,17207965 115353 NM_052940,AL031427,CH471059,CQ783291,AK074521,AK075201,AK090881,AK095767,BC013101,CR590055,CR593824,CR596855,CR597316,CR597412,CR604576,CR605476,CR607457,CR612127,CR614458,CR616803,CR626327 Q9Y546,ADQ31754,NP_443172,EAX06713,EAX06714,EAX06715,EAX06716,CAF86501,BAC11038,BAC11466,AAH13101 Hs.40094 MGC8974|dJ167A19.4 OTTHUMP00000010108|leucine-rich repeat-containing protein 42 protein-coding 1602639 LRRC43 leucine rich repeat containing 43 16344560,12477932 254050 NM_152759,NM_001098519,AC048338,AK124107,BC029245,DA951767 NP_689972,NP_001091989,BAC85772,AAH29245,Q8N309 Hs.721394 MGC35140 leucine-rich repeat-containing protein 43 protein-coding 1604206 LRRC45 leucine rich repeat containing 45 15489334,12477932 201255 NM_144999,AC137723,BC014109 NP_659436,AAH14109,Q96CN5 Hs.143774 MGC20806 leucine-rich repeat-containing protein 45 protein-coding 1602198 LRRC46 leucine rich repeat containing 46 15489334,12477932,17207965,16344560,8889548 90506 NM_033413,AC003665,CH471109,AK027206,AK292765,AK315665,BC010412,BM663857,DB024018 NP_219481,EAW94793,EAW94794,BAF85454,BAG38031,AAH10412,Q96FV0,ADQ32356 Hs.130767 FLJ23553|MGC16309 leucine-rich repeat-containing protein 46 protein-coding 1603205 LRRC47 leucine rich repeat containing 47 17081983,16710414,15489334,12477932,10574461,19615732 57470 NM_020710,AL365330,CH471130,AB033011,BC012300,BC031301 NP_065761,CAI42528,EAW71478,EAW71479,BAA86499,AAH31301,Q8N1G4 Hs.268488 KIAA1185|RP1-286D6.3 leucine-rich repeat-containing protein 47 protein-coding 1606494 LRRC48 leucine rich repeat containing 48 11256614,16381901,16344560,15489336,15489334,14702039,12477932,11997338,11840190,11230166,11076863,20379614 83450 NM_001130090,NM_031294,NM_001130091,NM_001130092,AC087163,CH471196,AK093317,AK293011,AL136926,BC040276,BC047873,BC050419,BC050665,DB032678 NP_001123562,NP_112584,NP_001123563,NP_001123564,EAW55681,EAW55682,EAW55683,BAG52688,BAF85700,CAB66860,AAH40276,AAH47873,AAH50419,AAH50665,Q9H069,CAL37611,CAL37643 Hs.579264 DKFZp586M1120 OTTHUMP00000065661|OTTHUMP00000065662|OTTHUMP00000065663|leucine-rich repeat-containing protein 48 protein-coding 1606554 LRRC49 leucine rich repeat containing 49 18575747,15489334,14702039,9373149,8889548,8125298,12477932 54839 NM_017691,AC013752,AC084703,AC090868,CH471082,AK000163,AK097752,AK123672,AK125732,AK225137,AK295547,AK301971,BC026157,BC037982,BM662008,CR609201,BM979547,NM_001199017,NM_001199018 NP_060161,EAW77864,EAW77865,EAW77866,EAW77867,BAA90984,BAG53524,BAG53933,BAH12102,BAH13596,AAH37982,Q8IUZ0,NP_001185946,NP_001185947 Hs.12692 FLJ20156 PGs4|leucine-rich repeat-containing protein 49|tubulin polyglutamylase complex subunit 4 protein-coding 1316128 LRRC4B leucine rich repeat containing 4B 1580863 12477932,15489334,15057824,11441184 94030 BC056207,BC131897,NM_001080457,AC008743,CH471135,CS083253,AL137451,BC019687,BC032460 AAH32460,AAH56207,AAI31898,Q9NT99,AAI56080,AAI72459,NP_001073926,EAW71884,EAW71885,EAW71886,CAI96013,CAB70743,AAH19687 Hs.120873 DKFZp761A179|HSM|LRIG4 NGL-3|leucine-rich repeat-containing protein 4B|leucine-rich repeats and immunoglobulin-like domains 4|netrin-G3 ligand protein-coding 1605967 LRRC4C leucine rich repeat containing 4C NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM] 14595443,15489334,12975309,12477932,10997877,15590698,20029409,20379614,20548944 57689 NM_020929,AC018951,AC080100,CH471064,AB046800,AK289646,AY358293,BC041374,DQ084201,DQ084202 NP_065980,EAW68107,BAB13406,BAF82335,AAQ88660,AAH41374,AAY86708,AAY86709,Q4JIV9,Q4JIW0,Q9HCJ2 Hs.135736 KIAA1580|NGL-1|NGL1 leucine-rich repeat-containing protein 4C|netrin-G1 ligand protein-coding 1606172 LRRC50 leucine rich repeat containing 50 18385425,16344560,15489334,14702039,12477932,19944400,19944405 123872 NM_178452,AC009123,AC040169,CH471114,AK057238,AK058059,AK295990,AK310961,AL137334,AL833327,AL833328,AL833336,BC024009,BX648657,DA349893,NG_021174 NP_848547,EAW95500,EAW95501,BAB71392,BAB71645,BAG58765,CAH10706,CAH10390,CAH10394,AAH24009,Q8NEP3 Hs.310164 CILD13|DKFZp434A119|FLJ25330|ODA7 leucine-rich repeat-containing protein 50|outer row dynein assembly 7 homolog protein-coding 1603449 LRRC52 leucine rich repeat containing 52 19536175,19064610,16710414,14702039,12477932 440699 NM_001005214,AL157714,AA725678,AK098677,BC132981,BC132983 NP_001005214,CAI15338,BAC05375,AAI32982,AAI32984,Q8N7C0 Hs.664975 FLJ25811 leucine-rich repeat-containing protein 52 protein-coding 2292704 LRRC53 leucine rich repeat containing 53 16710414,11181995 100144878 AC105271,CH471059 EAX06416,A6NM62 leucine rich repeat containing 53 protein-coding 1603880 LRRC55 leucine rich repeat containing 55 15340161,14702039,12477932,20379614 219527 NM_001005210,AP001786,CH471076,AK127591,BC136737,BC136739,BC150572,AK023401,AL832845 NP_001005210,EAW73729,BAC87047,AAI36738,AAI36740,AAI50573,Q6ZSA7 Hs.199853 DKFZp667D0425|FLJ13339|FLJ45686 OTTHUMP00000214782|leucine-rich repeat-containing protein 55 protein-coding 1604547 LRRC56 leucine rich repeat containing 56 15489334,14702039,12477932 115399 AP006284,CH471158,AK024495,AL831961,BC016439,BC035936,BC035937,NM_198075,AC137894 EAX02342,EAX02343,EAX02344,BAB15785,CAD38603,AAH16439,AAH35937,Q0P6F0,Q8IYG6,Q9H7I5,NP_932341 Hs.567655 DKFZp761L1518|FLJ00101 leucine-rich repeat-containing protein 56 protein-coding 1602825 LRRC57 leucine rich repeat containing 57 17207965,16344560,15489334,15146197,14702039,12477932 255252 NM_153260,AC018362,CH471125,AF087994,AK094131,AK094891,AK309861,BC051262,BC058935,BE301068,BQ130124,BX538324,CN350663,CR749223,DA749946 NP_694992,EAW92560,EAW92561,EAW92562,EAW92563,EAW92564,EAW92565,BAC04294,BAC04451,AAH58935,CAD98097,CAH18079,Q8N9N7,ADQ32576 Hs.234681 DKFZp686H1865|FLJ36812 OTTHUMP00000161266|leucine-rich repeat-containing protein 57 protein-coding 1606179 LRRC58 leucine rich repeat containing 58 16381901,15489336,14702039,12477932,11076863 116064 NM_001099678,AC063952,CH471052,AK056809,BC013757,CR614969,CR624557 NP_001093148,EAW79529,AAH13757,Q96CX6,CAL38114 Hs.518084 leucine-rich repeat-containing protein 58 protein-coding 1605059 LRRC59 leucine rich repeat containing 59 17353931,18063578,15489334,12665801,12477932,16344560,16541025,17215244,19615732,19710015,8889548 55379 NM_018509,AC004707,CH471109,AF119857,AK025328,AK130572,AK316593,BC017168,BC033695,BC052279,CR614409,CR624076,BM664133,DA782636 NP_060979,EAW94615,EAW94616,AAF69611,BAG38180,AAH17168,AAH52279,Q96AG4,ABM83301,ABM86515 Hs.370927 FLJ21675|PRO1855 OTTHUMP00000221216|leucine-rich repeat-containing protein 59 protein-coding 1351490 LRRC6 leucine rich repeat containing 6 15489334,12477932 23639 NM_012472,AF216667,CH471060,AK313107,BC027589,BC047286 NP_036604,EAW92143,EAW92144,AAH27589,AAH47286,Q86X45 Hs.591865 LRTP|TSLRP leucine-rich repeat-containing protein 6|leucine-rich testis-specific protein|testis specific leucine rich repeat protein|testis-specific leucine-rich repeat protein protein-coding 1602102 LRRC61 leucine rich repeat containing 61 16344560,15489334,14702039,12853948,12690205,12477932,17207965 65999 CR602087,CR604499,CR604731,CR606039,CR608476,CR608616,CR613542,CR619181,CR622405,CR624936,CR625785,DB001467,NM_023942,AACC02000108,AC005586,CH471173,AF161413,AK025869,AK055954,AK093915,AK098061,AW444958,BC001354,NM_001142928,CR596920 Q9BV99,Q9P087,NP_001136400,NP_076431,EAL24472,AAS00383,EAW54123,EAW54124,EAW54125,AAF28973,BAG51597,BAG52784,BAG53572,AAH01354,ADQ31611 Hs.647119 FLJ22216|FLJ31392|HSPC295|MGC3036 OTTHUMP00000212803|leucine-rich repeat-containing protein 61 protein-coding 1604970 LRRC63 leucine rich repeat containing 63 12477932,17903304 220416 XM_001716651,XM_001718341,XM_001714777,AL137141,AL139801,CH471075,BC030276 XP_001716703,XP_001718393,XP_001714829,CAI12166,EAX08759,EAX08760,EAX08761,AAH30276,Q05C16 Hs.267765 OTTHUMP00000018363|RP11-139H14.4|leucine-rich repeat-containing protein 63 protein-coding 1602410 LRRC66 leucine rich repeat containing 66 12477932 339977 NM_001024611,AC093858,AC104784,BC040414,CR749811 NP_001019782,CAH18671,Q68CR7 Hs.661450 leucine-rich repeat-containing protein 66 protein-coding 1606658 LRRC67 leucine rich repeat containing 67 12477932 286187 NM_001013626,AC110998,CH471068,BC055413 NP_001013648,EAW86927,AAH55413,Q7Z4L9 Hs.583933 dtr leucine-rich repeat-containing protein 67 protein-coding 2293904 LRRC68 leucine rich repeat containing 68 12477932,11853319,16189514 284352 XM_001723010,XM_001724714,XM_001722969,AC005757,AC011489,CH471126,AB075866,BC035704,BC039061,XM_003118775,XM_003118776,XM_003118777,XM_003118778,XM_003118779,XM_003119730,XM_003119731,XM_003119732,XM_003119733,XM_003119734,XM_003120946,XM_003120947,XM_003120948,XM_003120949,XM_003120950 XP_001723062,XP_001724766,XP_001723021,AAC62258,EAW57324,BAB85572,AAH35704,O75864,XP_003118823,XP_003118824,XP_003118825,XP_003118826,XP_003118827,XP_003119778,XP_003119779,XP_003119780,XP_003119781,XP_003119782,XP_003120994,XP_003120995,XP_003120996,XP_003120997,XP_003120998 Hs.285363 KIAA1986 leucine-rich repeat-containing protein 68 protein-coding 2293909 LRRC69 leucine rich repeat containing 69 14702039 100130742 NM_001129890,AC087439,AC104966,CH471060,AK097393,AK130865,AC104967 NP_001123362,EAW91678,BAC85448,Q6ZNQ3 Hs.720761 leucine-rich repeat-containing protein 69 protein-coding 1349743 LRRC7 leucine rich repeat containing 7 1580863 12477932,20379614,15767459,17353931,18029348,17968527,17581699,17039495,16741999,16710414,16120608,12819232,12525888,12390249,11729199,11160423,10718198,8824323 57554 AL117353,AL157948,AL158840,AL359412,AL359894,AL391728,CH471059,AB037786,AF434715,AF498274,BC128989,CR749629,NM_020794 NP_065845,CAI23423,CAI23424,CAI22425,CAI22426,CAH70974,CAH70975,CAH74018,CAH74019,CAH74020,CAH73131,CAH73691,CAH73692,CAH73693,EAX06461,EAX06462,EAX06463,EAX06464,EAX06465,BAA92603,AAL28133,AAP06801,AAI28990,CAH18423,Q96NW7 Hs.479658 DKFZp686I1147|KIAA1365|MGC144918 OTTHUMP00000065337|densin-180|leucine-rich repeat-containing protein 7 protein-coding 2302535 LRRC70 leucine rich repeat containing 70 14702039,12975309,12767927,12477932,11181995 100130733 NM_181506,AC114982,CH471137,CS161380,FJ695194,AK123022,AY280614,AY358733,BC067275,BC110838,BF511602 NP_852607,EAW51382,CAJ30881,BAC85517,AAP36706,AAQ89095,Q7Z2Q7 Hs.721348 DKFZp686E10165|FLJ41026|SLRN leucine-rich repeat-containing protein 70|synleurin protein-coding 1323279 LRRC8A leucine rich repeat containing 8 family, member A This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq] 1599837 12477932,10718198,17081983,16344560,16303743,15489334,15183935,15164053,15094057,14702039,14660746,14660738,12975309 1599837 56262 NM_001127244,NM_001127245,NG_009630,AL672142,CH471090,AB037858,AK001199,AK024649,AK027495,AK074723,AK123611,AK289842,AY143166,AY358286,BC000775,BC051322,NM_019594,BX376144,CA446287,CR619448,CR619692,DA243590 NP_062540,NP_001120716,NP_001120717,CAI10839,EAW87842,EAW87843,BAA92675,BAA91549,BAB55153,BAC11161,BAF82531,AAN18279,AAQ88653,AAH51322,Q8IWT6,Q96SW8,Q9NW37 Hs.643600 AGM5|FLJ10337|FLJ41617|KIAA1437|LRRC8 leucine rich repeat containing 8|leucine-rich repeat-containing protein 8A protein-coding 1606820 LRRC8B leucine rich repeat containing 8 family, member B 15489334,15094057,12975309,12477932,9039502,7829101,20379614 23507 NM_001134476,NM_015350,AC099569,CH471097,AF385436,AW022123,AY358112,AY640232,BC030607,BC035081,BC037831,BC053565,BC060782,BI459217,D86984 NP_001127948,NP_056165,EAW73137,EAW73138,AAM43837,AAQ88479,AAU14245,AAH30607,AAH37831,AAH60782,BAA13220,Q49AH5,Q537H9,Q6P9F7 Hs.482017,Hs.632420 KIAA0231|MGC42220|TA-LRRP|TALRRP OTTHUMP00000011820|T cell activation leucine repeat rich protein|T-cell activation leucine repeat-rich protein|leucine-rich repeat-containing protein 8B protein-coding 1604274 LRRC8C leucine rich repeat containing 8 family, member C 15489334,15184384,15094057,14702039,12477932,11230166,20379614 84230 NM_032270,AC093423,AC099569,CH471097,AB081509,AI014679,AK094804,AK127881,AL136919,AL699030,BC036122,BC103929,BC113973,HI574124 NP_115646,EAW73134,BAB86303,BAG54591,CAB66853,AAH36122,AAI13974,Q4G0W7,Q8TDW0,CBX47551 Hs.412836 AD158|DKFZp586J1119|FAD158|MGC138551 factor for adipocyte differentiation 158|leucine rich repeat containing 8C|leucine-rich repeat-containing protein 8C protein-coding 1320026 LRRC8D leucine rich repeat containing 8 family, member D 15231747,16710414,16344560,15489334,15342556,15094057,14702039,12975309,12477932,9373149,9110174,8619474,8125298 55144 NM_001134479,NM_018103,AC099568,AL391497,CH471097,AI671275,AK001332,AK092238,AK222787,AL831880,AL832952,AY007147,AY358874,BC009486,BC024159,BP283613,BX093623,CR624835,DA126452,DB097950 NP_001127951,NP_060573,CAH72224,CAH72225,CAH72226,EAW73130,EAW73131,EAW73132,BAA91631,BAG52503,BAD96507,CAH56285,CAH56273,AAQ89233,AAH09486,AAH24159,Q53GZ4,Q5VWA0,Q658W7,Q659A9,Q7L1W4,Q96GG5 Hs.482087 FLJ10470|FLJ20403|LRRC5 OTTHUMP00000012308|OTTHUMP00000012395|leucine rich repeat containing 5|leucine-rich repeat-containing 5|leucine-rich repeat-containing protein 5|leucine-rich repeat-containing protein 8D protein-coding 1604796 LRRC8E leucine rich repeat containing 8 family, member E 16381901,15489336,15489334,15094057,14702039,12477932,11230166,11076863 80131 NM_025061,AC010336,CH471139,AK027073,AK091134,AL834474,BC022216,BC070089,BC108252,BX538180,CB049178,CD109368 NP_079337,EAW68969,BAB15648,BAG52290,CAD39133,AAH22216,AAH70089,AAI08253,Q6NSJ5,Q6ZV13,CAL38392 Hs.501511 FLJ23420 leucine-rich repeat-containing protein 8E protein-coding 1603492 LRRC9 leucine rich repeat containing 9 341883 AL133299,AL157911,AK128037,XR_110295,XR_111430,XR_114751 BAC87242,Q6ZRR7 FLJ46156 miscrna 1604564 LRRCC1 leucine rich repeat and coiled-coil domain containing 1 18728398,16344560,14702039,12477932,11214970,18029348,16169070 85444 NM_033402,AC011773,AC083962,CH471068,AA000990,AB051551,AK056185,AK057990,AK300234,AK300874,AK302648,AK307350,AK307443,AK307636,BC030701,BC070092,BR000818,DA412089,DB458600 NP_208325,EAW87120,EAW87121,BAB21855,BAB71115,BAB71626,BAG62002,BAG62518,BAG63888,AAH30701,FAA00427,Q9C099 Hs.193115 CLERC|Clerc|KIAA1764|SAP2 centrosomal leucine-rich repeat and coiled-coil domain-containing protein|leucine-rich repeat and coiled-coil domain-containing protein 1|sodium channel associated protein 2 protein-coding 1348771 LRRFIP1 leucine rich repeat (in FLII) interacting protein 1 1580863 9671805,9705290,19265123,16964243,16199883,15489334,15302935,14702039,14522076,12477932,10366446,10364563,9525888,8889548,17081983,15815621,20833976,20379614 9208 BC001385,BC004958,BC010662,BC018883,BC019335,BC071618,BC083492,BC108913,BC108914,BE390005,BG699031,BU685896,U69609,NM_001137551,NM_001137552,NM_004735,NM_001137553,AC012076,AC096574,CH471063,AA975133,AF115510,AJ223075,AK000884,AK298270,NM_001137550,AK307485 AAH01385,AAH10662,AAH19335,AAI08914,AAI08915,AAC32037,Q05D04,Q32MZ4,Q9BSL6,Q9Y607,ACE87118,ACE86442,ACE87782,ACE87783,NP_001131022,NP_001131023,NP_001131024,NP_004726,NP_001131025,AAY14672,AAY14673,EAW71122,EAW71123,EAW71124,EAW71125,AAD41258,CAA11076,BAG60532,ACT64449,ACT64450 Hs.471779 FLAP-1|FLIIAP1|GCF-2|GCF2|HUFI-1|MGC10947|MGC119738|MGC119739|TRIP GC-binding factor 2|LRR FLII-interacting protein 1|NEDD8-conjugating enzyme|TAR RNA-interacting protein|leucine-rich repeat flightless-interacting protein 1|transcription factor 9-like protein-coding 4890229 LRRFIP1P1 leucine rich repeat (in FLII) interacting protein 1 pseudogene 1 100527961 AC007823,NG_027987 pseudo 1314733 LRRFIP2 leucine rich repeat (in FLII) interacting protein 2 1580863 15677333,19265123,17081983,15489334,14702039,12477932,10366446,20379614 9209 NM_017724,NM_001134369,NM_006309,AC006583,AC126118,CH471055,AF115509,AK000255,AK024692,AK026336,AK124432,AK291514,AK302282,BC053668,BX648794,CR611838,CR749705,DC336346,R27776 NP_060194,NP_001127841,NP_006300,EAW64486,EAW64487,EAW64488,EAW64489,EAW64490,EAW64491,AAD41257,BAA91035,BAF84203,BAG63625,AAH53668,CAH18481,Q9Y608 Hs.475319 DKFZp434H2035|FLJ20248|FLJ22683|FLJ58304|HUFI-2 LRR FLII-interacting protein 2|OTTHUMP00000161359|OTTHUMP00000208873|leucine-rich repeat flightless-interacting protein 2 protein-coding 1343054 LRRIQ1 leucine-rich repeats and IQ motif containing 1 737633 16344560,14702039,12477932,11347906,8889548,20379614 737633 84125 NM_001079910,NM_032165,AC025418,AC079631,AC133794,CH471054,AB058704,AK022365,AK307799,AU122206,BC005399,BC093088,BU608190,BU677204,CA502842,DB447399,DN831755 NP_001073379,NP_115541,EAW97393,EAW97394,EAW97395,EAW97396,BAB47430,BAB14022,AAH93088,Q96JM4 Hs.402200 FLJ12303 leucine-rich repeat and IQ domain-containing protein 1 protein-coding 1603911 LRRIQ3 leucine-rich repeats and IQ motif containing 3 12477932,21057379 127255 NM_001105659,AC098692,AL359205,CH471059,AK131476,BC020778,BC062795,BX647210 NP_001099129,CAO03470,EAX06418,EAX06419,EAX06420,EAX06421,EAX06422,EAX06423,BAD18621,AAH20778,AAH62795,A6PVS8 Hs.644625 LRRC44|MGC22773 OTTHUMP00000196434|leucine rich repeat containing 44|leucine-rich repeat and IQ domain-containing protein 3|leucine-rich repeat-containing protein 44 protein-coding 2293898 LRRIQ4 leucine-rich repeats and IQ motif containing 4 344657 NM_001080460,AC078795 NP_001073929,A6NIV6 Hs.319484 LRRC64 leucine rich repeat containing 64|leucine-rich repeat and IQ domain-containing protein 4|leucine-rich repeat-containing protein 64 protein-coding 1317516 LRRK1 leucine-rich repeat kinase 1 17353931,18272292,18045479,17394548,17324517,17225181,16572171,16243488,15489334,14702039,14654223,12477932,11347906,9373149,8889548,8125298,18029348 79705 AC015712,AC090907,CH471101,AB058693,AK026772,AK054662,AK058028,AK094556,AK130975,AK131075,AK225575,AW592808,BC005408,BC018934,BC020379,BC066655,BC068080,BC110293,BC144705,BC146769,BC171802,BQ187037,DQ013130,NM_024652 Q9BS11,AAI72446,NP_078928,EAX02287,EAX02288,EAX02289,BAB47419,BAB15547,BAG51407,BAG52887,BAC85472,BAC85125,AAH05408,AAH66655,AAH68080,AAI46770,AAY67799,Q38SD2 Hs.407918 FLJ23119|FLJ27465|KIAA1790|RIPK6|Roco1 leucine-rich repeat serine/threonine-protein kinase 1 protein-coding 1353141 LRRK2 leucine-rich repeat kinase 2 This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq] 20544233,20729864,20881132,20386743,20921534,17200152,16980962,17442267,16352719,16321986,16269541,19640773,19625511,19576176,19538213,19535993,19527940,19513331,19489756,19473361,19412725,19405094,19397894,19357115,19353692,19343804,19330201,19302196,16102999,16102903,16087219,16081470,16001413,15955629,15955578,15929036,15925109,15884041,15880653,15852371,15811454,15732108,15726496,15680457,15680456,15680455,15541309,15541308,15146197,14702039,14691730,12477932,11891824,16145815,16115731,18434642,18412265,18397888,18379513,18378882,18353371,18338801,18337586,18322396,18322385,18316234,18272292,18265005,18230735,18214993,18213618,18211709,18201824,18201193,18197194,18182054,18098275,18097693,18097165,18045479,17999435,17978862,17971075,17960808,17938369,17914064,17880562,17868389,17846883,17804834,17803033,17803032,17720280,17706965,17659642,17639429,17625107,17622782,17614198,17611037,17596714,17584768,17540608,17523199,17512502,17482357,17470139,17469194,17447891,17440812,17433753,17427941,17419834,17409193,17395370,17394548,17388990,17385669,17377919,17353388,17352347,17341485,17335904,17324517,17314670,17260967,17253937,17235449,17230458,17225181,17222580,17222106,17216639,17215492,17187665,17179858,17160203,17151837,17149721,17116211,17115391,17097110,17083102,17082220,17080443,17078063,17060595,17052850,17050822,17044089,17020475,17019612,17017534,17017533,16991141,16966681,16966502,16966501,16966498,16939701,16928343,16865326,16822348,16817197,16781064,16758483,16750929,16750377,16728648,16671078,16643318,16633828,16632201,16622859,16622854,16616379,16614029,16602113,16533964,16532471,16511860,16467219,16437559,16436782,16436781,16333314,16298482,16275903,16272257,16272164,16269443,16254973,16251215,16250030,16247070,16240353,16172858,16157909,16157908,16157901,16149095,19714762,21088684,21115957,21073465,19224617,18435766,19205068,19204172,19196961,19076219,19065525,19029519,19025767,19021752,19020907,19006185,18986508,18981379,18980856,18973807,18973254,18936941,18927607,18923807,18848304,18809839,18805725,18804399,18781329,18752982,18718805,18716801,18704525,18701920,18675914,18666856,18665323,18634852,18621566,18617409,18602856,18587394,18556235,18544747,18541113,18539535,18539534,18523869,18523722,18486522,18484993,18464276,18450497,18445495,20108944,19945904,20197411,20197701,20515039,20413974,20506312,20626563,20720502,18644660,18952485,19041274,19172321,19283415,19308469,19458969,19472409,19536328,19545277,19559761,19625296,19640926,19672984,19680143,19692353,19699188,19726410,19733152,19735093,19741132,19756366,19769964,19770575,19800393,19804413,19822953,19824698,19826009,19833102,19847307,19854095,19878656,19879329,19890007,19912990,19915575,19915576,20001906,20004703,20018409,20018961,20067578,20074637,20090955,20182943,20186690,20379614,20443975,20473834,20483373,20008657,21102463,20659558,20669305,20232069,20595391,20671708,19760754,20711177,20933457,21072187,20629711,20669299,20673920,20697102,20721910,20721913,20721916,20722494,20727385,20818610,20818658 120892 NM_198578,NG_011709,AC079630,AC084290,AC107023,AK026776,AK122640,AK127729,AK131537,AL832453,AL834529,AY792511,BC117180,BM285390,BR000408,BU634341,BX640975,CN294292 NP_940980,CAD39185,AAV63975,AAI17181,FAA00322,CAE45989,Q17RV3,Q5S007,Q6MZN9 Hs.187636 AURA17|DARDARIN|PARK8|RIPK7|ROCO2 augmented in rheumatoid arthritis 17|leucine-rich repeat serine/threonine-protein kinase 2 protein-coding 1345511 LRRN1 leucine rich repeat neuronal 1 20678249,18591937,16381901,15489336,15489334,15340161,14702039,12975309,12880961,12477932,11076863,10819331 57633 AB040930,AB074161,AK023273,AK291717,AY358312,BC034947,NM_020873,AC023484,CH471055 BAA96021,BAE45733,BAB14500,BAF84406,AAQ88679,AAH34947,Q6UXK5,CAL37408,CAL38112,CAL38432,CAL38647,NP_065924,EAW63900,EAW63901 Hs.163244 FIGLER3|KIAA1497|NLRR-1 fibronectin type III, immunoglobulin and leucine rich repeat domains 3|leucine-rich repeat neuronal protein 1|neuronal leucine-rich repeat protein 1 protein-coding 1313534 LRRN2 leucine rich repeat neuronal 2 The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 9662332,16710414,15489334,14702039,12975309,12477932,8401585,20379614 10446 CR611702,NM_006338,AL161793,AL512306,CH471067,AF030435,AK001246,AK024867,AK226055,AK312408,AL833565,AY358290,BC034047,BC068541,NM_201630 NP_963924,NP_006329,CAI14096,EAW91520,EAW91521,EAW91522,AAC39792,BAG50878,BAG35321,AAQ88657,AAH34047,AAH68541,O75325,ABM83316,ABM86531 Hs.26312 FIGLER7|GAC1|LRANK1|LRRN5 OTTHUMP00000035084|fibronectin type III, immunoglobulin and leucine rich repeat domain 7|glioma amplified on chromosome 1 protein|leucine rich and ankyrin repeats 1|leucine rich repeat neuronal 5|leucine-rich repeat neuronal protein 2|leucine-rich repeat neuronal protein 5 protein-coding 734364 LRRN3 leucine rich repeat neuronal 3 1580863 16344560,15489334,14702039,12975309,12477932,11549284,20379614,20678249 54674 NM_001099660,NM_001099658,NM_018334,AC004142,CH236947,CH471070,CS265753,AB060967,AF134481,AK001991,AK292556,AL442092,AY358280,BC035133,CR457397,DA494543,DB095402 NP_001093130,NP_001093128,NP_060804,EAL24380,EAW83449,EAW83450,CAJ78398,AAP97258,BAA92025,BAF85245,CAC09450,AAQ88647,AAH35133,CAG33678,Q9H3W5,Q9NUU4,BAB47184 Hs.3781 FIGLER5|FLJ11129|NLRR-3|NLRR3 OTTHUMP00000207165|fibronectin type III, immunoglobulin and leucine rich repeat domains 5|leucine-rich repeat neuronal protein 3|leucine-rich repeat protein, neuronal 3|neuronal leucine-rich repeat protein 3 protein-coding 1313178 LRRN4 leucine rich repeat neuronal 4 16344560,16189514,15870286,15489334,12477932,11780052,19448619 164312 AL118505,CH471133,AK172833,AK290123,BC019612,BC027720,DA737583,NM_152611,AL035461 CAI42165,EAX10397,BAD18798,BAF82812,AAH27720,Q6ZMD1,Q8WUT4,CAI23479,NP_689824 Hs.149133 C20orf75|FLJ23994|MGC25027|NLRR4|dJ1056H1.1 NLRR-4|leucine-rich repeat neuronal protein 4|neuronal leucine-rich repeat protein 4 protein-coding 1603349 LRRN4CL LRRN4 C-terminal like 12975309,12477932 221091 BQ678065,AK291334,AL834319,AY358354,BC053902,NM_203422,AP001458 BAF84023,CAD38988,AAQ88720,AAH53902,Q8ND94,NP_981967 Hs.427449 MGC61707 LRRN4 C-terminal-like protein protein-coding 1354064 LRRN6B leucine rich repeat neuronal 6B 14686891 353297 AK091795 1351021 LRRTM1 leucine rich repeat transmembrane neuronal 1 1580863 19626025,21041608,17667961,19125367,19125366,19125365,15489334,14702039,12975309,12676565,12477932,9373149,8125298,20678249 347730 NM_178839,AC016670,CH471053,AA977181,AK056644,AK225779,AK290512,AY182024,AY358310,BC045113,BI756350 NP_849161,EAW99566,EAW99567,BAB71240,BAF83201,AAO67545,AAQ88677,AAH45113,Q86UE6,ADR82640 Hs.591580 FLJ32082 OTTHUMP00000202791|OTTHUMP00000202802|OTTHUMP00000203402|OTTHUMP00000203403|OTTHUMP00000203404|leucine-rich repeat transmembrane neuronal 1 protein|leucine-rich repeat transmembrane neuronal protein 1 protein-coding 1345909 LRRTM2 leucine rich repeat transmembrane neuronal 2 1580863 19240791,16344560,15489334,12676565,12477932,9455477 26045 BC028172,BC126408,BC126410,BC143926,CR600503,DA400927,NM_015564,AC011405,CH471062,AB007876,AK291064,AK309790,AY182026 AAI26409,AAI26411,AAI43927,O43300,NP_056379,EAW62125,BAA24846,BAF83753,AAO67547,ADR83048 Hs.656653 FLJ76283|FLJ99831 leucine-rich repeat neuronal 2 protein|leucine-rich repeat transmembrane neuronal 2 protein|leucine-rich repeat transmembrane neuronal protein 2 protein-coding 1312552 LRRTM3 leucine rich repeat transmembrane neuronal 3 1580863 19105203,17098871,15489334,12975309,12676565,12477932,20678249 347731 BC113715,BC113717,BX640611,NM_178011,AC022401,AC069536,AL139240,CH471083,AK290168,AK294029,AY182028,AY358315,BC111492 AAI11493,AAI13716,AAI13718,CAE45717,Q86VH5,NP_821079,EAW54253,BAF82857,BAG57384,AAO67549,AAQ88681,ADR83071 Hs.652155 MGC131810 OTTHUMP00000019683|leucine-rich repeat transmembrane neuronal protein 3 protein-coding 1352645 LRRTM4 leucine rich repeat transmembrane neuronal 4 1580863 16344560,15489334,14702039,12975309,12676565,12477932,20379614 80059 NM_024993,NM_001134745,AC079614,CH471053,AI079273,AK022630,AK122612,AK126961,AY182030,AY358324,BC017769,BC098267,BC098301,BC099738,BC110058,DB305042,DB366645,AC068616,AC013408,AC013716,AC016758,AC068048,AC079117,AC079146,AL353610 NP_079269,NP_001128217,EAW99585,BAB14141,BAG53623,BAC86764,AAO67551,AAQ88690,AAH17769,AAH98267,AAH98301,AAH99738,AAI10059,Q4KMX1,Q6ZT31,Q86VH4,Q9H9T0 Hs.285782 FLJ12568|MGC120633|MGC120636 OTTHUMP00000202553|OTTHUMP00000202556|leucine-rich repeat transmembrane neuronal 4 protein|leucine-rich repeat transmembrane neuronal protein 4 protein-coding 1342647 LRS1 Larsen syndrome 1 (autosomal dominant) 7485161 4044 1343012 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 LRSAM1 is a multifunctional RING finger protein that selectively regulates cell adhesion molecules, has ubiquitin ligase activity, and plays a role in receptor endocytosis and viral budding (Li et al., 2003 [PubMed 14635195]; Amit et al., 2004 [PubMed 15256501]).[supplied by OMIM] 737633 18077552,16713569,15489334,15256501,15164053,14702039,14635195,12975309,12477932,7757816,16808324,16169070,16189514,18029348,16344560,19690564,20865121,19549727 737633 90678 NM_138361,NM_001005374,AL445222,CH471090,AF086398,AK056203,AK056305,AK091589,AK097094,AK226106,AY358830,BC009239,NM_001005373,CR622763,Z44095,AI364608,DA393757,DB165274,NM_001190723 AAH09239,NP_001005373,NP_612370,NP_001005374,CAH72930,CAH72931,EAW87671,EAW87672,EAW87673,EAW87674,BAB71119,BAB71144,BAC03703,AAQ89189,Q6UWE0,NP_001177652 Hs.495188 FLJ31641|RIFLE|TAL E3 ubiquitin-protein ligase LRSAM1|Tsg101-associated ligase|leucine-rich repeat and sterile alpha motif-containing protein 1 protein-coding 1606530 LRTM1 leucine-rich repeats and transmembrane domains 1 17081983,15489334,12477932,10931946 57408 NM_020678,AC092797,AC109584,CH471055,AF225421,BC040732,BC074741 NP_065729,EAW65305,EAW65306,AAG09723,AAH40732,AAH74741,Q9HBL6 Hs.591668 HT017 leucine-rich repeat and transmembrane domain-containing protein 1 protein-coding 1605448 LRTM2 leucine-rich repeats and transmembrane domains 2 16344560,14702039,12477932 654429 BX115405,NM_001039029,NM_001163925,NM_001163926,AC005343,CH471116,AK095610,AK124687,AK125402,AK126866,BC036868,BC129997,BC146894,BC146910,BC150567,BC150568,DA336140,DA418133 NP_001034118,NP_001157397,NP_001157398,EAW88921,EAW88922,BAC04589,BAG54068,BAC86158,AAI46895,AAI46911,AAI50569,Q6ZUR1,Q8N967 Hs.585579 FLJ42697 leucine-rich repeat and transmembrane domain-containing protein 2 protein-coding 1602965 LRTOMT leucine rich transmembrane and 0-methyltransferase domain containing 18794526,18953341,17211611,17166180,17066295,16344560,15489334,12477932 220074 NM_001145309,NM_001145308,NR_026886,NM_145309,NM_001145307,AP000812,AP002490,CH471076,AF289588,AK298997,AK302772,AK311690,AK313150,AK315892,BC012855,BC035223,DA637921,EU627066,EU627067,EU627068,NM_001145310,EU627069,EU627070,NG_021423 NP_001138782,NP_001138781,NP_001138780,NP_660352,NP_001138779,EAW74832,EAW74833,EAW74834,EAW74835,AAL55772,BAH12920,BAH13802,BAG35968,BAF98783,AAH12855,ACF40876,ACF40877,ACF40878,ACF40879,ACF40880,Q8WZ04,Q96E66 Hs.317243 COMT2|DFNB63|FLJ52451|LRRC51|LRTOMT1|LRTOMT2 OTTHUMP00000206871|OTTHUMP00000206874|catechol O-methyltransferase 2|leucine rich repeat containing 51|leucine-rich repeat-containing protein 51|leucine-rich repeat-containing protein 51; transmembrane O-methyltransferase|transmembrane O-methyltransferase protein-coding 1603534 LRWD1 leucine-rich repeats and WD repeat domain containing 1 15302935,12477932,20180869,20850016,20932478 222229 NM_152892,AC093668,CH471197,AB209379,AK290967,AK313771,AL133057,BC009436,BC030547,BC018769,CR598375,CR620752 NP_690852,EAW50250,BAD92616,BAF83656,BAG36509,CAB61382,AAH09436,AAH18769,AAH30547,Q59FT0,Q9UFC0 Hs.274135 DKFZp434K1815|ORCA ORC-associated|ORC-associated protein|leucine-rich repeat and WD repeat-containing protein 1|origin recognition complex associated|origin recognition complex-associated protein protein-coding 1347242 LSAMP limbic system-associated membrane protein The protein encoded by this gene is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system. During development of the limbic system, this encoded protein is found on the surface of axonal membranes and growth cones, where it acts as a selective homophilic adhesion molecule, and guides the development of specific patterns of neuronal connections. [provided by RefSeq] 1580863 8666243,18433483,18318786,18268500,15489334,15146195,14667507,12477932,9615236,14702039,19441093,19724913,20379614 4045 NM_002338,AC012598,AC021657,AC067725,AC078784,AC078805,AC078813,AC084408,CH471052,AK299851,AK315286,BC033803,U41901,AK091573,AK092715,AK094535,BC041405,BC045591,BM041903 NP_002329,EAW79588,EAW79589,EAW79590,EAW79591,BAH13147,BAG37695,AAH33803,AAC50569,Q13449,ABM83025,ABM86218 Hs.26409,Hs.723683 FLJ34254|FLJ35396|FLJ37216|FLJ54658|IGLON3|LAMP IgLON family member 3|OTTHUMP00000214775|limbic system-associated membrane protein protein-coding 1605064 LSG1 large subunit GTPase 1 homolog (S. cerevisiae) This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm. 12477932,11256614,11230166,11076863,10737800,9373149,8125298,16209721,16381901,16344560,15489336,14702039 55341 NM_018385,AC046143,CH471052,AK002163,AK130804,AK225094,AL136897,AW748476,BC015042,BC040119,BC058891,BC068500,BQ009975,DA101432,DA414880 NP_060855,EAW78035,EAW78036,EAW78037,EAW78038,EAW78039,BAA92116,CAB66831,AAH15042,AAH40119,AAH68500,Q9H089,CAL37455 Hs.518505 FLJ11301|FLJ27294 hLsg1|large subunit GTPase 1 homolog protein-coding 1312715 LSM1 LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 10369684,14667819,15231747,18218995,17001308,16756390,16699599,15489334,12515382,12477932,11953827,11920408,10851237,10523320,9230209,8980254,18172165,18559850,20379614 27257 AC084024,CH471080,AF000177,AF147348,AJ238094,AK312159,BC001767,NM_014462,CR593275,CR601572,CR611636,CR621829,HC879396,HD033105 NP_055277,EAW63332,EAW63333,AAB62189,CAB45865,BAG35093,AAH01767,O15116,CBM42914,CBV35647 Hs.425311 CASM|YJL124C U6 snRNA-associated Sm-like protein LSm1|cancer-associated Sm-like|small nuclear ribonuclear CaSm protein-coding 1350873 LSM10 LSM10, U7 small nuclear RNA associated 1580863 15231747,19277982,16914750,16087681,15489334,15188402,12975319,12477932,11574479,10207079,11782445,16189514 84967 NM_032881,AC119675,CH471059,AF166092,AF394685,BC007623 NP_116270,EAX07367,AAQ13594,AAL07689,AAH07623,Q7Z2T2,Q969L4 Hs.727572 MGC15749|MST074|MSTP074 U7 snRNA-associated Sm-like protein LSm10|U7 snRNP-specific Sm-like protein LSM10 protein-coding 1354131 LSM11 LSM11, U7 small nuclear RNA associated 737633 16914750,16087681,15489334,14702039,12975319,12477932,11574479,16714279 737633 134353 NM_173491,AC026407,CH471062,AK095592,BC051353,BC126449 NP_775762,EAW61589,BAC04581,AAH51353,AAI26450,P83369 Hs.631954 FLJ38273 2210404M20Rik|LSM11 homolog, U7 small nuclear RNA associated|U7 snRNA-associated Sm-like protein LSm11 protein-coding 1606981 LSM12 LSM12 homolog (S. cerevisiae) 17353931,15225602,14702039,12477932,16169070 124801 NM_152344,AC023855,CH471178,AF277193,AK055218,AK300637,AL832076,BC016791,BC044587,BC066298,BC105288,CR597933 NP_689557,EAW51639,BAB70877,BAG62326,AAH44587,AAI05289,Q3MHD2 Hs.355570 FLJ30656|MGC104211|PNAS-135 protein LSM12 homolog protein-coding 1642112 LSM12P LSM12 homolog (S. cerevisiae) pseudogene 11181995 653122 NG_005566,AC013302,CH471080 EAW63386 LSM12P pseudo 1313874 LSM14A LSM14A, SCD6 homolog A (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 737633 17081983,16484376,15489334,14702039,12477932,17074753,18723115,18029348 737633 26065 NM_001114093,NM_015578,AC010614,AB069974,AB069975,AK027369,AK027643,AK127401,AK300208,AL117499,AL833221,AL834398,BC016842,AC210437 NP_001107565,NP_056393,BAC99045,BAC99046,BAB55066,BAB55259,BAG61978,CAB55964,CAD39060,AAH16842,Q8ND56 Hs.726039 C19orf13|DKFZp434D1335|FAM61A|RAP55|RAP55A LSM14 homolog A|RNA-associated protein 55|RNA-associated protein 55A|alphaSNBP|chromosome 19 open reading frame 13|family with sequence similarity 61, member A|hRAP55|hRAP55A|protein LSM14 homolog A|protein SCD6 homolog|putative alpha-synuclein-binding protein protein-coding 1351489 LSM14B LSM14B, SCD6 homolog B (S. cerevisiae) 16344560,15489334,14702039,12477932,11780052,16169070 149986 NM_144703,AL078633,AL137077,CH471077,AF165185,AF172328,AK058202,AK298748,BC035702,BC054888,BC057387,BM547301,BX370449,BX375905,CR618201,CR622108,CX166280,DB336439 NP_653304,CAI11047,CAI11048,CAI11049,CAI11050,CAI11051,EAW75401,EAW75402,EAW75403,EAW75404,EAW75405,AAD46654,AAD52585,BAB71714,BAG60891,AAH57387,Q5TBQ1,Q9BX40 Hs.105379 C20orf40|FAM61B|FLJ25473|FT005|LSM13|MGC61931|RAP55B|bA11M20.3 LSM14 homolog B|OTTHUMP00000031463|Putative uncharacterized protein C20orf40|RNA-associated protein 55B|chromosome 20 open reading frame 40|family with sequence similarity 61, member B|hRAP55B|protein LSM14 homolog B protein-coding 1350592 LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 19913121,20628086,10523320,15231747,12226669,18095154,16169070,15592455,15489334,14667819,14656967,12515382,12477932,11991638,11920408,11275683,10931946,10851237,8428774,10601333,16189514,17643375,19615732,19851445 57819 NM_021177,AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,CR759787,CR759915,CR925765,AF136977,AF182288,AF196468,AJ245416,BC009192,CR542146,CR542157,CR601536 NP_067000,AAD21818,CAI17733,CAI18212,CAI18462,BAB63302,EAX03525,EAX03526,CAQ10128,CAQ07255,CAQ10626,AAG49438,AAD56226,AAG33023,CAB52190,AAH09192,CAG46943,CAG46954,Q6FGG1,Q9Y333,ABM83829,ABM87538 Hs.103106 C6orf28|G7b|YBL026W|snRNP U6 snRNA-associated Sm-like protein LSm2|protein G7b|small nuclear ribonuclear protein D homolog|snRNP core Sm-like protein Sm-x5 protein-coding 1314318 LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 15231747,10369684,16169070,15489334,14667819,12515382,12477932,11991638,11920408,10851237,10523320,16189514,16344560,17643375 27258 NM_014463,AC093495,CH471055,AF182289,AF182418,AJ238095,AK312189,BC007055,CR457185,DB289601,DB499707 NP_055278,EAW64190,AAD56227,AAG14954,CAB45866,BAG35122,AAH07055,CAG33466,P62310 Hs.111632 SMX4|USS2|YLR438C U6 snRNA-associated Sm-like protein LSm3 protein-coding 1315632 LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 15231747,17353931,10523320,10369684,19240061,19088440,17178857,16189514,15905169,15489334,12515382,12477932,11920408,10931946,10851237,523320,17643375,19615732 25804 NM_012321,AC008397,CH471106,AF117235,AF182290,AF251218,AJ238096,BC000387,BC003652,BC022198,BC023665,BF432099,DB493307 NP_036453,EAW84686,EAW84687,EAW84688,EAW84689,AAF17216,AAD56228,AAF90055,CAB45867,AAH00387,AAH03652,AAH22198,AAH23665,Q9Y4Z0,ACE87767,ACE87088 Hs.515255 YER112W GRP|U6 snRNA-associated Sm-like protein LSm4|glycine-rich protein protein-coding 1318552 LSM5 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 10369684,15231747,16344560,16341674,15489334,14702039,12690205,12515382,12477932,11920408,11591653,10851237,10523320,17207965 23658 HH767892,NM_001139499,NM_001130710,NR_024466,NM_012322,AACC02000087,AC018641,CH471073,AF182291,AJ238097,AK022772,AK024217,BC005938,BC040717,BF667238,BF700164,BM786181,CR600225,CR607727,CX782029,DA736378,FB336553 CBX84702,NP_001132971,NP_001124182,NP_036454,EAL24440,EAW93990,EAW93991,AAD56229,CAB45868,AAH05938,Q9Y4Y9,ADQ33157,CAR81224 Hs.424908 FLJ12710|YER146W OTTHUMP00000202667|U6 snRNA-associated Sm-like protein LSm5 protein-coding 1345160 LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 15231747,10523320,15489334,12515382,12477932,11920408,10851237,10369684,19615732 11157 NM_007080,AC097372,CH471056,AF182292,AI351504,AJ238098,AK312126,BC016026,BC019894,DB465201 NP_009011,AAY41032,EAX05029,EAX05030,EAX05031,AAD56230,CAB45869,BAG35062,AAH16026,P62312,Q4W5J5,ABM83254,ABW03308 Hs.190520 YDR378C OTTHUMP00000220224|OTTHUMP00000220225|OTTHUMP00000221100|Sm protein F|U6 snRNA-associated Sm-like protein LSm6 protein-coding 3362200 LSM6P1 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 1 100129011 AC090409,NG_016615 HsT818|LSM6P pseudo 3051011 LSM6P2 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 2 100462857 AC131157,NG_021717 pseudo 1313330 LSM7 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 10523320,12165861,15231747,15489334,15057824,14667819,12515382,12477932,11920408,11591653,10851237,14603251,15452143,17643375,19615732 51690 NM_016199,AC005258,CH471139,AF182293,BC018621,BI553911,FB336555,HH767894 NP_057283,AAC25622,AAG45442,EAW69389,EAW69390,AAD56231,AAH18621,O75243,Q9UK45,ABM86086,ABM86327,ABW03771,CAR81225,CBX84703 Hs.512610 YNL147W U6 snRNA-associated Sm-like protein LSm7 protein-coding 1318211 LSM8 LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene is a member of the LSm family and encodes a protein with a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. The protein partners with six paralogs to form a heteroheptameric ring which transiently binds RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq] 1580863 10523320,15231747,16344560,16051491,15489334,14667819,12853948,12690205,12477932,11920408,10369684,9847074,8889548,14702039,19615732,19660095 51691 AK090561,DA478457,NM_016200,AC006389,CH236947,CH471070,AF182294,AK311936,AL600056,BC002742,BC022440,BC042464,BC045532,BC053644,BC064376,BM972935,DA112078,DA318705,DB275674 NP_057284,AAD15542,EAL24351,EAW83535,EAW83536,EAW83537,AAD56232,BAG34877,AAH02742,AAH22440,O95777 Hs.655046 FLJ33242|LSM8|YJR022W LSM8 homolog, U6 small nuclear RNA associated|MAK31-like protein|N-alpha-acetyltransferase 38, NatC auxiliary subunit|OTTHUMP00000211115|OTTHUMP00000211116|U6 snRNA-associated Sm-like protein LSm8 protein-coding 1603947 LSMD1 LSM domain containing 1 12477932 84316 NM_032356,AC104581,CH471108,AF530060,BC006407,BC033861,BC051846,BC059944 NP_115732,EAW90123,AAQ09944,AAH06407,AAH33861,AAH51846,AAH59944,Q9BRA0,ABM84216,ABM84245,ABM87633 Hs.565094 MGC14151|MGC74837|PFAAP2 LSM domain-containing protein 1|phosphonoformate immuno-associated protein 2|regulated by phosphonoformate protein-coding 1314573 LSP1 lymphocyte-specific protein 1 This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 8274738,2174784,19232126,19094228,18973230,18437204,17997823,17827388,17529967,17481585,17296787,15489334,15188402,15090600,14702039,12972289,12477932,11746662,10925289,10233704,9890705,9373149,8995217,8838798,8468046,7706408,7561054,2674678,2295815,18029348,8125298,19913121,20554749,20605201,20628086,19656774,19718030,19789366,19843670,19856316,20054709,20095854,20145138,20237496,20417875,20453838 4046 NM_002339,NM_001013253,NM_001013254,NM_001013255,NG_011509,AC051649,AF043107,AF043349,CH471158,S58726,AK056576,AK092071,AK093859,AK129684,AK222733,AK290279,AK292033,BC001785,BQ893821,CR541728,CR541754,CR594777,CR595099,CR601725,CR603863,CR604737,CR605591,CR607980,CR622813,CR625395,S67783,X55188 NP_002330,NP_001013271,NP_001013272,NP_001013273,AAB99825,AAC00495,EAX02470,EAX02471,AAD13906,BAG51753,BAG52478,BAC85216,BAD96453,BAF82968,BAF84722,AAH01785,CAG46529,CAG46554,AAB29545,CAA38971,P33241,Q16002,Q16003,Q6ZPA3,Q9UEV7,Q9UEV8 Hs.56729 WP34|pp52 47 kDa actin binding protein|47 kDa actin-binding protein|52 kDa phosphoprotein|F-actin binding and cytoskeleton associated protein|OTTHUMP00000014138|OTTHUMP00000069614|OTTHUMP00000069615|OTTHUMP00000069616|leufactin (leukocyte F-actin binding protein)|leukocyte-specific protein 1|lymphocyte-specific antigen WP34|lymphocyte-specific protein 1|lymphocyte-specific protein pp52 protein-coding 736744 LSR lipolysis stimulated lipoprotein receptor 18029348,17975147,16303743,16083285,15489334,15324660,15057824,14702039,12477932,10224102,15778465 51599 CR615213,CR620742,CR621125,CR608562,CR611725,CR614787,NM_205834,NM_015925,NM_205835,AC002128,AD000684,AF130366,AK075426,AK126834,AK130367,AK296618,BC000015,BC004381,BC047376,BQ711340,CR601464,CR601774 Q86X29,Q8NBM0,Q9BT33,Q9BWS2,NP_991403,NP_057009,NP_991404,AAB58317,AAB51178,AAD22101,BAC11614,BAC86714,BAG59226,AAH00015,AAH04381,AAH47376 Hs.466507 ILDR3|LISCH7|MGC10659|MGC48312|MGC48503 LISCH protein|immunoglobulin-like domain containing receptor 3|lipolysis-stimulated lipoprotein receptor|lipolysis-stimulated receptor|lipolysis-stimulated remnant|liver-specific bHLH-Zip transcription factor|liver-specific bhlh-zip transcription factor 7 protein-coding 736635 LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863,1300048,1626611,2316857,2316919 7639730,17186944,19119143,18660489,16806233,16344560,15790807,15525992,15489334,14766201,14702039,12477932,11421484,10830953,10598817,9763219,8889548,8820110,8655142,8593458,3515096,19913121,20628086,20379614 1626611,2316857,2316919 4047 X87809,NM_001001438,NM_001145437,NM_002340,NM_001145436,NG_011510,AJ239031,AP001468,AP001469,CH471079,AA922470,AK092334,AK096769,AK098352,AK128839,AK226141,AK296313,AK312489,AY927524,BC035638,BM662957,BU728696,BX443698,D63807,DA333499,S81221,GN121355,HB965870,HB966073,HD023280,HD023483 CAA61078,P48449,Q6ZQP6,Q8N7J1,Q8N8I2,Q8NAP6,ABM82160,ABM85344,NP_001001438,NP_001138909,NP_002331,NP_001138908,CAB42828,EAX09299,EAX09300,EAX09301,EAX09302,EAX09303,BAC03865,BAC04859,BAC05289,BAC87638,BAG59011,BAG35391,AAH35638,BAA09875,AAB36220,CAY34695,CBG17604,CBG17696,CBV30957,CBV31050 Hs.596543 FLJ25486|FLJ35015|FLJ39450|FLJ46393|OSC 2,3-epoxysqualene--lanosterol cyclase|2,3-epoxysqualene-lanosterol cyclase|2,3-oxidosqualene: lanosterol cyclase|hOSC|lanosterol synthase|oxidosqualene--lanosterol cyclase protein-coding 1602168 LST-3TM12 organic anion transporter LST-3b 20837016,19414484 338821 NM_001009562,AC011604,AC087309,CH471094,AF401642 Q71QF0,NP_001009562,EAW96417,EAW96418,EAW96419,AAQ03085,Q5JAR5 Hs.449738 LST3 liver-specific organic anion transporter 3|liver-specific organic anion transporter 3TM12 protein-coding 1350273 LST1 leukocyte specific transcript 1 2316570,2316565 14667819,10944527,11478849,7590964,10706707,19019335,18818748,16362817,14656967,14574404,12646700,12477932,11828009,10668961,10562324,9367684,8824804,1352700,19913121,20628086,20663564,20668555,20689807,15090600,19242354,19527514,19663701,19773279,19851445,20173083,20854863 2316570,2316565 7940 AL929587,BA000025,BX248519,BX927320,NM_205838,NM_205839,NM_205840,NM_205837,AF129756,AL662801,AL662847,NM_007161,CR942185,M74228,U00921,AF000424,AF000425,AF000426,AI091696,AV711621,AY852265,AY852266,BC103855,BC103856,BI838080,BX647293,CD742958,CR591668,DQ099382,Y18486,Y18487,Y18488,Y18489,Y18490,CH471081,CR753892,CR759886,AJ705986,AV715235,AW925228,NM_001166538,NR_029461,NR_029462 CAI18654,CAM45791,CAI17686,CAI17687,CAI18651,CAI18652,CAI18655,CAI18656,CAI18657,CAI18658,CAI18659,BAB63394,CAI41942,CAI41943,CAI41944,CAI41945,CAI41946,CAI41948,CAI41949,CAI41950,CAI41951,CAI41952,CAQ09997,NP_009092,NP_995310,NP_995311,NP_995312,NP_995309,AAD18090,CAI18294,CAI18295,CAI18296,CAI18297,CAI18298,CAI18299,CAI18300,CAI18301,CAM25582,CAM25583,CAM25584,CAM25585,CAM25586,CAM25587,CAI17680,CAI17683,CAI17684,CAI17685,CAQ07232,CAQ07233,CAQ07234,CAQ07235,CAQ07236,CAQ07237,CAQ07238,CAQ07239,CAQ07240,CAQ07241,CAQ07715,CAQ07716,CAQ07717,CAQ07718,CAQ07719,CAQ07720,CAQ07721,CAQ07722,CAQ07723,CAQ07724,CAQ07725,AAB57724,AAB86998,AAB86999,AAB87000,AAX45331,AAX45332,AAI03856,AAI03857,AAZ13758,CAB59904,CAB59905,CAB60038,CAQ07231,CAB59906,CAB59903,O00453,Q2HNT3,Q2HNT4,Q4F969,Q5HYS9,Q5HYT5,Q5SP24,Q5STA5,Q5STA6,Q5STA8,Q5STB1,CAQ10000,CAQ10001,CAQ10002,CAQ10003,CAQ10004,CAQ10005,CAQ10006,CAQ10007,CAQ09998,EAX03427,EAX03428,EAX03429,EAX03430,EAX03431,EAX03432,EAX03433,EAX03434,EAX03435,EAX03436,EAX03437,EAX03438,CAQ09999,CAQ06937,CAQ06938,CAQ06939,CAQ06940,CAQ06941,CAQ06942,CAQ06943,CAQ06944,CAQ06945,CAQ06946,CAQ06947,CAQ06948,CAQ06949,CAQ06950,CAI18653,CAM45790,NP_001160010 Hs.436066 B144|D6S49E|LST-1|MGC119006|MGC119007 OTTHUMP00000029392|OTTHUMP00000029393|OTTHUMP00000029394|OTTHUMP00000029395|OTTHUMP00000029396|OTTHUMP00000029399|OTTHUMP00000166010|OTTHUMP00000166013|OTTHUMP00000166016|OTTHUMP00000166018|leucocyte specific transcript 1|leukocyte-specific transcript 1 protein|lymphocyte antigen 117 protein-coding 1345394 LTA lymphotoxin alpha (TNF superfamily, member 1) The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4 and psoriatic arthritis. 1580414,1580415,1580416,1580417,1625038,2313255,2313262,2313261,2313264,2313263,1581940,1581936,1625035,1625033,1625034,1625036,1625042,1581937,1581939,1580863,2313253,2313257,2313259,4143370,4143264,4143254,4143247,4143248,4143371,4143260,4143373,4143234 12351419,12169181,12164325,12149604,12126516,12116197,12082592,12047333,12030733,12028020,11975986,11924527,11841484,11841482,11823516,11820636,11808761,11800584,11781708,11775944,11737072,11732226,11591192,11576577,11574100,11544434,11410733,11401880,11399938,11371414,11349201,11334675,11319038,11258696,11257271,11250044,11243953,11233912,11210078,11196686,11194890,11164894,11163081,11120931,11113269,11092520,11037831,10668961,10202016,9552007,9480751,9317127,9307242,9282784,9235946,9185077,9153189,8912010,8629302,8499947,8387891,8323280,8171323,8139045,8123048,8081366,7995952,7916655,7818827,7695626,7601445,7590964,6608523,3555974,3536896,3001529,3001109,2995927,2567059,2545693,2243081,2160731,1733919,1671667,1670638,1451807,1353024,1279199,16934308,16375755,17014622,16988060,16979413,16971410,16950634,16939911,16931032,16928504,16882065,16874159,16872485,16867312,16839190,16814297,16788244,16775170,16728705,16723241,16702430,16643431,16609369,16545485,16447204,16389181,16386648,16323614,16313841,16298864,16293872,16276011,16249504,16246225,16215460,16204594,16193177,16186631,16164697,16135717,16132956,16107511,16095118,16054631,15999154,15976383,15973460,15969671,15955450,15951664,15890243,15861005,15851552,15843211,15811521,15803361,15729581,15718364,15713215,15699425,15695296,15667484,15663746,15649304,15639929,15639341,15583987,15548263,15533732,15526004,15517637,15513316,15489334,15457442,15381184,15380900,15354858,15342556,15306845,15306179,15286263,15248209,15236755,15224026,15219382,15194285,15187748,15175864,15174288,15159312,15129282,15128916,15077289,15061799,15052269,15041959,15034015,15009068,14987295,14681301,14656967,14647194,14637275,14635012,14617046,14593215,14572794,14569193,14566095,12953135,12917036,12915440,12906716,12888330,15932622,12780951,12770792,12768436,12746914,12717265,12714268,12709814,12691703,12679941,12661999,12651071,12648734,12622777,12568117,12566517,12559634,12558135,12545006,12528108,12519452,12478078,12477932,12439617,12426569,12414751,12828656,12392859,6334807,19528505,19505916,19495883,19479237,19474452,19427781,19420105,19392797,19392621,19374512,19369902,19365711,19353239,19336475,19317746,19281305,19264973,19263529,19258923,19253056,19247692,19244371,19242354,19238444,19225544,19183163,19182073,19167443,19143814,19131662,19120272,19103156,19074885,19052714,19050632,19034549,19028820,19021060,19013788,19013708,19012493,18990758,18987644,18977990,18974842,18974840,18953879,18947013,18819899,18806884,18805892,18797991,18754435,18700950,18676680,18636124,18633131,18575614,18513389,18504081,18496506,18457972,18442814,18409070,18405969,18398039,18394614,18385169,18384488,18354254,18349535,18299433,18292573,18273643,18271063,18230628,18190265,18071035,18069935,18062795,18032375,17989341,17989340,17981284,17971052,17953695,17767555,17767060,17703412,17700210,17640627,17640324,17635597,17595314,17559370,17536219,17530646,17521734,17517687,17497114,17493152,17485095,17483704,17450233,17444864,17444587,17388919,17380888,17355643,17353895,17349875,17348243,17345061,17336158,17335371,17332138,17315188,17311253,17295710,17220333,17216494,17212707,17207711,17194634,17174749,17140746,17113632,17113059,17103073,17071996,17065682,17045328,17040205,17036337,17029750,17018637,19009622,19000388,20396759,16931544,19170196,19550417,19559392,19573080,19578796,19625176,19626584,19629486,19654554,19661089,19664671,19672706,19692168,19700502,19726041,19729601,19735075,19738620,19773279,19773451,19789445,19800575,19833626,19837266,19851445,19860767,19889075,19890662,19894308,19900796,19933216,19948975,19958618,20014019,20035431,20047977,20070603,20080841,20145925,20177654,20180006,20188863,20189261,20214763,20237496,20307689,20335604,20395963,20416077,20452482,20453000,20459604,20463618,20472930,20491592,20500087,20503287,20536609,20537163,9462508,20548340,20356761,20627040,20662065,11167813,18922873,20568250,20811626,20835611,20848459,20854863,20878356,20933106,21029472,21067489,19913121,20485444,20536507,20578820,20587610,20603037,20608170,20628086,20644561,20663564,20668555,20673868 1580414,1580415,1580416,1625038,2313255,2313262,2313261,2313264,2313263,1581940,1581936,1625035,1625033,1625034,1625036,1625042,1581937,1581939,2313253,2313257,2313259,4143370,4143264,4143254,4143247,4143248,4143371,4143260,4143373,4143234 4049 BC034729,BP338937,CR542253,CR542273,CR603193,D00102,D12614,DQ123821,DQ123822,DQ123823,DQ123824,DQ123825,DQ123826,DQ123827,X01393,NM_000595,NG_012010,NM_001159740,AB088112,AB103618,AB202113,AF129756,AL662801,AL662847,AL929587,AY070490,AY216498,AY274903,AY274904,AY274905,AY274906,AY274907,AY274908,AY274909,AY274910,AY274911,AY274912,AY274913,AY274914,AY274915,AY274916,AY274917,AY274918,AY274919,AY274920,AY274921,AY274922,AY274923,A06316,AY274925,AY274926,BA000025,BX248519,BX927320,CH471081,CR753892,CR942185,CS081477,M16441,M55913,X02911,Y14768,Z15026,AY274924 CAA78746,AAH34729,CAG47049,CAG47069,BAA00064,BAA02139,AAZ32914,AAZ32915,AAZ32916,AAZ32917,AAZ32918,AAZ32919,AAZ32920,CAA25649,P01374,Q45NE3,Q45NE4,Q45NE5,NP_000586,NP_001153212,BAC54943,BAF31278,BAE78638,AAD18092,CAI18291,CAI17677,CAI18648,AAL49956,AAO21135,AAP51421,AAP51422,AAP51423,AAP51424,AAP51425,AAP51426,AAP51427,AAP51428,AAP51429,AAP51430,AAP51431,AAP51432,AAP51433,AAP51434,AAP51435,AAP51436,AAP51437,AAP51438,AAP51439,AAP51440,AAP51441,Q45NE6,Q45NE7,Q45NE8,Q45NE9,Q5HYS4,Q5ST95,Q5STV3,Q6FG55,Q6WQT9,Q6WQU7,Q6WQV4,Q6WQV6,Q6WQV7,CAA00536,ABM82045,ABM85224,AAP51442,AAP51443,AAP51444,BAB63397,CAI41938,CAQ09992,EAX03422,EAX03423,CAI95949,AAA61199,AAB59455,CAA26670,CAA75071 Hs.36 LT|TNFB|TNFSF1 LT-alpha|TNF-beta|lymphotoxin-alpha|tumor necrosis factor beta|tumor necrosis factor ligand superfamily member 1 protein-coding 1322731 LTA4H leukotriene A4 hydrolase 2313910,1580863,2316582,2316606,2316607 11154734,1881903,17353931,11175901,19214143,19131661,19130089,19056482,18599387,18547289,18323512,18318662,16698924,16293801,16282974,15886380,15489334,12477932,11675384,11451962,10887124,9733439,9578147,9395533,8615763,7843421,7628486,6490615,3654641,3038871,2821541,2244921,2233358,1975494,1897988,1516710,1357660,16169070,19913121,20628086,20810156,20432426,20562859,20966902,18029348,19622707,19919819,20067482,20211140,20237496 2313910,2316582,2316606,2316607 4048 NM_000895,AC007298,CH471054,U27293,AB209740,AK293630,AK298017,AK301308,AK308184,AK310461,BC032528,BC036555,BX647158,CR457068,CR594064,CR596162,J02959,J03459 NP_000886,EAW97557,EAW97558,EAW97559,EAW97560,AAA89077,BAD92977,BAG57086,BAG60321,BAG62860,AAH32528,AAH36555,CAG33349,AAA36177,AAA36176,P09960,Q49AK0,Q59ES1 Hs.524648 LTA-4 hydrolase|leukotriene A-4 hydrolase protein-coding 1353964 LTB lymphotoxin beta (TNF superfamily, member 3) Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 7916655,9299492,19115949,18379788,18292573,17981284,16702430,15969671,15910501,15489334,15248211,15077289,15034048,14656967,12477932,12474234,11823516,10668961,10318773,10202016,9545284,9480751,9317127,9185077,8824804,8629302,8586432,8499947,8081366,7995952,7601445,7590964,2995927,1714477,1671667,1670638,9235946,19222863,19729601,19735075,19800575,19851445,19948975,20356761,20662065,21029472,19913121,20628086 4050 BX248519,BX927320,CH471081,CR753892,CR759886,CR942185,CS081478,L11016,Y14768,BC055090,BC069330,BC093783,L11015,NM_009588,NM_002341,AB088106,AB103612,AB202114,AF129756,AL662801,AL662847,AL929587,AY070219,AY216497,BA000025,U79029,U89922 CAI41941,CAQ09994,EAX03425,EAX03426,CAQ06936,CAQ07228,CAQ07712,CAI95950,AAA99888,CAA75069,AAH69330,AAH93783,AAA36191,BAB63395,NP_033666,NP_002332,BAC54938,BAF31273,BAE78640,AAD18089,CAI18293,CAI17679,CAI18650,AAL49954,AAL49955,AAO21134,AAB37342,AAC51769,Q06643,Q52LU8,Q5STB2 Hs.376208 TNFC|TNFSF3|p33 LT-beta|TNF-C|lymphotoxin-beta|tumor necrosis factor C|tumor necrosis factor ligand superfamily member 3 protein-coding 1348020 LTB4R leukotriene B4 receptor 1581956,1580863,1581954 20489206,16293697,15814727,15789613,15728714,15489334,14688279,12943671,12913925,12902330,12895595,12664610,12477932,12374694,12244116,12163367,12077128,11907121,10934230,10934229,9742207,9268704,8921391,8889549,8558062,20688055,8702478,9177352,19309698,19136615,19064572,18852255,18797182,18571838,18421027,18323512,17931111,17445804,17237498,17158791,17139258,17075244,16920986,16624877,16493075,16754659,20395453 1581956,1581954 1241 NM_181657,AB008193,AL096870,AY322535,CH471078,U33448,AA021034,AW242534,BC004545,BT007267,BU146237,CR618079,D89078,D89079,U41070,X98356,NM_001143919,BQ182452 NP_001137391,NP_858043,BAB00611,AAP84348,EAW66029,AAB16747,AAH04545,AAP35931,BAA20423,BAA20424,AAC50628,CAA67001,Q15722,ABM84725,ABW03628 Hs.727320,Hs.567248 BLT1|BLTR|CMKRL1|GPR16|LTB4R1|LTBR1|P2RY7|P2Y7 G protein-coupled receptor 16|G-protein coupled receptor 16|LTB4-R 1|LTB4-R1|OTTHUMP00000164789|OTTHUMP00000164790|P2Y purinoceptor 7|chemoattractant receptor-like 1|chemokine receptor-like 1|leukotriene B4 receptor 1|purinergic receptor P2Y, G-protein coupled, 7 2315792 GLUCO171_H protein-coding 1353949 LTB4R2 leukotriene B4 receptor 2 1580863 19448154,19748928,20026606,20090768,20194723,10889186,10913346,19286633,19131661,19126593,18981151,18852255,18781173,18421027,18323512,18082638,16920986,16624877,15489890,12913925,12895595,12477932,12044878,11006272,10934230,10934229,10913347,16754659 56413 AK304169,CH471078,DC408599,NM_001164692,AB008193,AB083604,AJ278605,AL096870,AY268433,AB029892,AB032558,AB044402,AF277230,AF308571,BC038437,BC119674,BC127643,NM_019839 BAG65054,EAW66030,NP_001158164,NP_062813,BAB00610,BAB89317,CAB96134,AAP23200,BAA99553,BAD83590,BAA99539,AAF81261,AAG40857,AAI19675,AAI27644,Q5KU28,Q9NPC1,AAI72240,AAI72548 Hs.642693,Hs.657595 BLT2|BLTR2|JULF2|KPG_004|LTB4-R 2|LTB4-R2|NOP9 LTB4 receptor JULF2|leukotriene B4 receptor 2|leukotriene B4 receptor BLT2|seven transmembrane receptor BLTR2 protein-coding 68547 LTBP1 latent transforming growth factor beta binding protein 1 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 8537398,18029348,19453261,19431147,19339270,18602101,17580303,17293099,16825507,16713569,15564041,14626352,12962157,12477932,12429738,12358597,11104663,10930463,10743502,10646116,9274625,9060478,8756760,8617200,8287682,2350783,18677313,20446778,19258388,19829035,19893584,19895311,19897194,19998449,20189936,20379614,20587546,20599762 4052 AC019127,AC019195,AC020594,AL133244,CH471053,L48925,AA935267,AB208801,AF489528,AK298027,AK299237,AK299912,AK302857,AK315991,AL703596,BC130289,BC144127,BC144128,BX103725,BX472809,BX492839,CA419949,CF995689,M34057,NM_206943,NM_000627,BM147075,CD657511,DR001861,NM_001166264,NM_001166265,NM_001166266 NP_000618,AAY24260,AAY14953,AAY15036,EAX00435,EAX00436,EAX00437,EAX00438,EAX00439,AAA96327,BAD92038,AAM03124,BAG60329,BAG61269,BAG61750,BAG64043,BAH14362,AAI30290,AAI44129,AAA61160,Q14766,NP_996826,NP_001159736,NP_001159737,NP_001159738 Hs.619315 MGC163161 LTBP-1|OTTHUMP00000201218|OTTHUMP00000201281|OTTHUMP00000201282|OTTHUMP00000201676|OTTHUMP00000201704|TGF-beta1-BP-1|lanc (bacterial lantibiotic synthetase component c)-like 1|latent-transforming growth factor beta-binding protein 1|transforming growth factor beta-1-binding protein 1 protein-coding 68549 LTBP2 latent transforming growth factor beta binding protein 2 The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq] 1580863 8964588,8697098,7798248,19453261,19361779,19182256,18697872,17581631,17293099,15063762,12716902,12508121,12477932,11870232,11104663,10930463,10743502,9709808,9685426,9150447,7719025,20617341,17474147,19656777,19681046,19817957,19851296,20198315,20424473,20881960,20179738,20587546 4053 NM_000428,AC005479,AC013451,CH471061,AB209865,AF113211,BC032434,BC047742,BC062686,BC078659,CB054045,S82451,Z37976,NG_021486 NP_000419,AAF87081,EAW81182,EAW81183,BAD93102,AAG39282,AAH78659,AAB37459,CAA86030,Q14767,Q59EE6,Q6AZ94,Q9H3F3 Hs.512776,Hs.597522 C14orf141|GLC3D|LTBP3|MSTP031 LTBP-2|latent-transforming growth factor beta-binding protein 2 protein-coding 736405 LTBP3 latent transforming growth factor beta binding protein 3 19453261,19344874,18672106,16223572,16157329,15489334,15231748,14702039,12477932,12358597,12154076,12062452,11846885,11104663,10930463,10743502,9620332,7798248,7719025,19897194,20708005,20587546 4054 AK126126,AK127484,AK298858,AK299351,AK309230,AL117551,BC008761,AK124524,NM_001130144,AP000769,AP001362,CH471076,AF011407,AF135960,AF135961,AF318354,AK024477,AK090750,AK097212,NM_021070,BC136277,NG_016437,NM_001164266 BAG54046,BAG60980,BAG61347,CAB55988,NP_066548,NP_001123616,EAW74401,EAW74402,EAW74403,EAW74404,EAW74405,AAB64201,AAF62352,AAF62353,AAL55861,BAB15767,AAH08761,AAI36278,Q8WYU6,Q9NS15,Q9P0Z7,NP_001157738 Hs.289019 DKFZp586M2123|FLJ33431|FLJ39893|FLJ42533|FLJ44138|FLJ45576|LTBP-3|LTBP2|STHAG6|pp6425 latent TGF beta binding protein 3|latent-transforming growth factor beta-binding protein 3 protein-coding 1315988 LTBP4 latent transforming growth factor beta binding protein 4 Transforming growth factor-beta, or TGFB (see TGFB1; MIM 190180), remains biologically latent after secretion, blocked from activity by its N-terminal propeptide (the latency-associated peptide, or LAP). TGFB is activated by its dissociation from LAP. The latent form of TGFB is secreted in association with a latent TGFB-binding protein, or LTBP (see LTBP1; MIM 150390), and assembled into the extracellular matrix. LTBPs are mainly composed of epidermal growth factor (EGF; MIM 131530)-like repeats and protein domains with 8-cysteine repeats, both of which are also found in fibrillins (e.g., MIM 134797). See Oklu and Hesketh (2000) [PubMed 11104663] for a review of the LTBP gene family.[supplied by OMIM] 1582112 9660815,18585707,18487557,16713569,16456143,16157329,11683420,11104663,9271198,18276110,19836010,19897194,19998449,20175115,20424473,19913121,20587546,20628086,20800603 1582112 8425 NM_003573,NM_001042544,NM_001042545,AC010412,CH471126,AF051344,AF051345,AF054501,AF054502,AK074499,AK128191,AK304612,AK309484,BQ001109,Y13622,NG_021201,HI574228,HI574230,HI574232 NP_003564,NP_001036009,NP_001036010,EAW56982,EAW56983,EAW56984,EAW56985,AAC39879,AAC39880,AAC39881,AAC39882,BAC11024,BAG54648,BAH14224,CAA73944,O75440,O75441,Q8N2S1,CBX47603,CBX47604,CBX47605 Hs.466766 FLJ46318|FLJ90018|LTBP-4|LTBP-4L|LTBP4L|LTBP4S latent transforming growth factor-beta binding protein 4L|latent-transforming growth factor beta-binding protein 4 protein-coding 1319795 LTBR lymphotoxin beta receptor (TNFR superfamily, member 3) The protein encoded by this gene is a member of the tumor necrosis factor (TNF) family of receptors. It is expressed on the surface of most cell types, including cells of epithelial and myeloid lineages, but not on T and B lymphocytes. The protein specifically binds the lymphotoxin membrane form (a complex of lymphotoxin-alpha and lymphtoxin-beta). The encoded protein and its ligand play a role in the development and organization of lymphoid tissue and tranformed cells. Activation of the encoded protein can trigger apoptosis. [provided by RefSeq] 1580863 12761501,9371602,8171323,18412315,18347013,18292573,17896993,17360402,17336158,17010447,16934497,16002734,15917993,15489334,14702039,14517219,12571250,12566458,12485937,12477932,12466117,12419817,12169272,12083416,10799510,10318773,10207006,20568250,12393901,10200501,9817170,9626059,9511754,9202035,9122217,8995654,8663299,8660894,8530100,8486360,7916655,11279055,9162022,19423540,19773279,19800575,20185819,20237496,20348096,20406964,20438785,9462508,20592286 4055 NM_002342,AB125676,AC005840,CH471116,AK027080,AK095418,AK128019,AK293187,BC026262,BX648074,CR620746,CR626362,L04270 NP_002333,BAD01488,EAW88801,EAW88802,BAG53051,BAH11468,AAH26262,AAA36757,P36941,Q75UT6,ABM82921,ABM86111 Hs.1116 CD18|D12S370|LT-BETA-R|TNF-R-III|TNFCR|TNFR-RP|TNFR2-RP|TNFRSF3 TNF-RIII|TNFR superfamily, member 3|TNFR-III|lymphotoxin B receptor|lymphotoxin-beta receptor|tumor necrosis factor C receptor|tumor necrosis factor receptor 2-related protein|tumor necrosis factor receptor superfamily member 3|tumor necrosis factor receptor superfamily, member 3|tumor necrosis factor receptor type III protein-coding 733491 LTC4S leukotriene C4 synthase The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq] 1300048,2313910,2316612,2316641,2302283 20980252,9435249,9113110,9092565,8898379,8626689,8446623,7937884,7663172,1517222,10436863,8706658,19233132,8052639,1454853,7599836,19524426,19479237,19450127,19280718,19263529,19247692,19223558,19214143,19131662,19131661,19080797,19028820,18974840,19080532,18366797,18323512,18276912,17924829,17883728,17632548,17632546,17483957,17460547,17291864,17153879,17110605,17063752,16730545,16675353,16340173,16293801,16211251,16024972,15530365,15489334,15131571,14749922,14520724,12968987,12816731,12728163,12664565,12591277,12589355,12477932,12360108,12063521,11934880,11770699,11034337,10970815,10673221,10591082,19559392,19703064,19862937,19956635,20128419,20395963,20456754,20536507,20603037 2313910,2316612,2316641,2302283 4056 NM_145867,AC008393,CH471165,U50136,U62025,AI480325,BC029498,BI597970,BI819419,U09353,U11552 NP_665874,EAW53796,EAW53797,EAW53798,EAW53799,AAC50476,AAB06723,AAH29498,AAA20467,AAA50555,Q16873,ABM81888,ABM85060 Hs.706741 MGC33147 LTC4 synthase|leukotriene C4 synthase|leukotriene-C(4) synthase protein-coding 1313477 LTF lactotransferrin This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. [provided by RefSeq] 1580863 17353931,9770539,19435495,19334538,19258923,19240970,19033648,18977241,18973542,18785755,18697201,18619616,18453607,18285402,18156281,18022620,17947640,17703412,17601350,17597152,17568188,17543335,17515863,17503830,17476971,17475866,17461450,17390038,17342646,17211147,17208010,17079302,17030385,17015741,16954396,1369293,1327110,16928883,15709021,9781360,11313366,9223490,15588942,12522210,1464627,16936811,16936805,16936800,16842782,16820307,16787913,16769765,16650524,16644090,16432833,16261256,16261253,16208406,16152584,15993972,15955101,15851553,15793153,15543612,15525592,15489334,15378004,15364102,15299793,15297857,20207115,20404350,20594128,15222485,15222484,15221967,15166119,14702039,14573629,12826902,12788072,12774664,12766201,12710738,12646274,12565886,12563088,12535064,12525164,12477932,12450380,12438385,12296849,12165535,12165435,12097406,12065686,12037568,11937551,11911118,11908641,11908638,11787671,11756570,11748357,11730482,11702692,11697537,11549422,11083760,10944471,10666301,10558865,10340976,10089508,10089347,9873069,9359845,9003186,8870657,7762432,7744878,7049727,6794640,6510420,3995055,3477300,3356163,3028636,2585506,2402455,2374734,2049066,1703177,1661314,1544444,1480183,20587610,20673868,11907569,19282435,19348738,19382280,19454813,19651866,19834535,19916937,19997820,20136960,20237496,20345905,20379614,20452482,20485928,20503287,20155438,20411301,15342556 4057 NG_023257,BC015823,NM_002343,AC098613,AF508798,AY156717,CH471055,M73700,S52659,U95626,AF332168,AK093852,AK290859,AK292813,AK298035,AK303889,AK303995,AK316330,AY137470,AY165046,AY178998,AY360320,AY493417,AY875691,BC015822,BC022347,CD722125,DQ522304,EU779935,M18642,M83202,M83205,M93150,U07643,X52941,X53961,BP342557,NM_001199149 Q8IX02,ABM83781,ABM87101,BAF85502,NP_002334,AAO14686,AAN84790,EAW64767,AAA59479,AAB24877,AAB57795,AAG48753,BAG52774,BAF83548,BAH12708,BAG64824,BAG64912,BAH14701,AAN11304,AAN63998,AAN75578,AAR12276,AAS72878,AAW71443,AAH15822,AAH15823,AAH22347,ABF69105,ACF19793,AAA86665,AAA59511,AAA58656,AAA36159,AAB60324,CAA37116,CAA37914,P02788,Q19KS2,Q2TUW9,Q5DSM0,Q5EK51,Q8IWS6,NP_001186078 Hs.529517 GIG12|HLF2|LF OTTHUMP00000209780|OTTHUMP00000209781|growth-inhibiting protein 12|lactoferrin|lactotransferrin|neutrophil lactoferrin|talalactoferrin protein-coding 1319608 LTK leukocyte receptor tyrosine kinase The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7685902,16344560,14695357,12477932,12237455,12107410,9223670,8995435,8910363,8427607,8084603,7851890,2836739,2320375,2156206,1655406 4058 NM_206961,NM_001135685,NM_002344,AC016134,AC087721,CH471125,AK296892,AK314006,BC045607,BC143903,BX329448,CA394397,CR611113,D16105,DA452723,DB331746,X52213,X60702,CS542498 NP_996844,NP_001129157,NP_002335,EAW92494,EAW92495,EAW92496,EAW92497,EAW92498,EAW92499,EAW92500,EAW92501,BAG59451,AAH45607,BAA03679,CAA36460,CAA43113,P29376,Q4G0N3,CAM91186 Hs.434481 TYK1 leukocyte tyrosine kinase receptor|protein tyrosine kinase 1 protein-coding 1322627 LTV1 LTV1 homolog (S. cerevisiae) 17207965,14702039,12477932 84946 NM_032860,AL049844,CH471051,AK027815,AK091447,AK300360,BC009855,CR593625,CR615418 ADQ32684,NP_116249,CAI21442,EAW47858,EAW47859,EAW47860,BAB55388,BAG62100,AAH09855,Q96GA3 Hs.185675 C6orf93|FLJ14909|FLJ18519|dJ468K18.4 protein LTV1 homolog protein-coding 1316796 LUC7L LUC7-like (S. cerevisiae) The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM] 1580863 17353931,17081983,15489334,15383276,14702039,12477932,11170747,11157797,9373149,17207965,8125298,16169070,19913121,20628086,19615732 55692 BC065198,BX647161,CR590109,CR590928,CR601233,CR610923,CR617017,CR622525,NM_201412,AE006462,CH471112,DQ431198,Z69890,AJ404326,AK001093,AK097974,AK223084,AY005111,BC003194,NM_018032 AAH03194,AAH65198,Q1W6G4,Q53G47,Q9NQ29,NP_060502,NP_958815,AAK61218,EAW85850,EAW85851,EAW85852,EAW85853,EAW85854,EAW85855,EAW85856,EAW85857,EAW85858,EAW85859,EAW85860,ABD95913,CAM26671,CAM26672,CAB93981,CAB93982,BAA91500,BAD96804,AAG22846,ADQ32579 Hs.16803 FLJ10231|LUC7-LIKE|LUC7B1|Luc7|SR+89|hLuc7B1 OTTHUMP00000067166|OTTHUMP00000194916|putative RNA-binding protein Luc7-like 1|putative SR protein LUC7B1|sarcoplasmic reticulum protein LUC7B1 protein-coding 1318546 LUC7L2 LUC7-like 2 (S. cerevisiae) 737633,1580863 19574390,17726058,17656373,17353931,17081983,16344560,16169070,15635413,15489334,15383276,15324660,15231748,14702039,17643375,19710015,12853948,12477932,10810093,20098747,17207965 737633 51631 AC083880,AC083883,CH236950,CH471070,AF151817,AF151832,AK001476,AK001519,AK022895,AK092044,AK093864,AK094081,AK095839,AK297642,AK298166,BC017163,BC041001,BC042625,BC050708,BC056886,CR603944,NM_016019,CR613966,DA342563 NP_057103,AAS07477,EAW83916,EAW83917,EAW83918,AAD34054,AAD34069,BAA91713,BAA91737,BAB14297,BAG52473,BAG52777,BAG52810,BAH12639,BAH12736,AAH17163,AAH42625,AAH50708,AAH56886,Q75M91,Q9Y383,ACE87456,ACE86770,ADQ32722 Hs.370475 CGI-59|CGI-74|FLJ10657|LUC7B2|hLuc7B2 H_NH0792N18.3|putative RNA-binding protein Luc7-like 2 protein-coding 1604358 LUC7L3 LUC7-like 3 (S. cerevisiae) This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 16462885,17643375,18029348,18663000,19710015,20237496,10631324,19574390,10754390,12565863,17726058,17353931,16482509,16344560,15324660,15146197,14702039,12477932,11329013,9373149,8125298,15798186,20677014 51747 NM_016424,NM_006107,AC005921,CH471109,AF069250,AF147357,AK001925,AK023672,AK027723,AK225980,AK290540,AK295983,AL050121,BC002925,BC047043,BC056409,BC061896,BG213545,CN271700,CR603552,CR621017,DA231851,DQ013876 NP_057508,NP_006098,EAW94583,EAW94584,EAW94585,EAW94586,EAW94587,AAC79807,BAA91981,BAG51216,BAF83229,BAG58758,AAH02925,AAH47043,AAH56409,AAY26238,O95232,Q6PKC2,Q86Y74,AAI56955 Hs.130293 CRA|CREAP-1|CROP|LUC7A|OA48-18|hLuc7A CRE-associated protein 1|OTTHUMP00000221733|OTTHUMP00000221734|cAMP regulatory element-associated protein 1|cisplatin resistance associated overexpressed protein|cisplatin resistance-associated overexpressed protein|cisplatin resistance-associated-overexpressed protein|luc7-like protein 3|okadaic acid-inducible phosphoprotein OA48-18 protein-coding 1344357 LUM lumican This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq] 1582117,1582123,1582120,1582121,1582122,1580863,2317230,2317695,2317682,2317692,2317694,724427 10892350,10802664,14718574,10734230,7665616,19643966,19616852,19394140,19330863,19060265,19036156,19020750,19012040,19008226,18620607,18477477,18093185,17671699,17558846,17050378,16902402,16760896,16335952,15505028,15489334,15466200,15336555,15149859,14996436,14760718,14720136,12477932,12366811,11956587,11016924,10656267,8889549,9373149,8595806,8125298,7558030,20819773,19913121,20628086,20357198,16169070,19569180,19686741,19843670,20010793,20138170,20360993 1582117,1582123,1582120,1582121,1582122,2317230,2317695,2317682,2317692,2317694,724427 4060 NM_002345,AC078873,CH471054,AA036658,AK223177,AK312682,BC007038,BC035997,BG548387,BT006707,CR590017,CR591759,CR594137,CR598016,CR599122,CR600007,CR605833,CR606101,CR607086,CR607089,CR609107,CR609587,CR610309,CR612809,CR613590,CR614927,CR615450,CR616086,CR616823,CR616860,CR618650,CR620237,CR621524,CR622333,CR623039,CR624582,CR625135,U18728,U21128 NP_002336,EAW97449,BAD96897,BAG35562,AAH07038,AAH35997,AAP35353,AAA85268,AAA91639,P51884,Q53FV4,ABM83480,ABM86691 Hs.406475 LDC|SLRR2D KSPG lumican|keratan sulfate proteoglycan lumican|lumican|lumican proteoglycan protein-coding 736317 LUZP1 leucine zipper protein 1 This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 61655 17081983,16710414,15489334,15342556,14702039,12693554,12477932,8812416 61655 7798 NM_033631,NM_001142546,AL031428,AL049576,AL161672,CH471134,AK000297,AK025345,AK074153,AK093016,AL831896,BC002428,BC016175,BC033219,BC051733,BP200621 NP_361013,NP_001136018,CAI19705,CAI19706,EAW95034,EAW95035,EAW95036,BAB84979,AAH16175,AAH33219,AAH51733,Q05DE3,Q5TH92,Q86V48,ABZ92513 Hs.257900 FLJ35697|KIAA0601|LUZP OTTHUMP00000003262|leucine zipper protein 1 protein-coding 1347178 LUZP2 leucine zipper protein 2 20700443,19084217,18519826,12975309,12856284,12477932,20379614 338645 NM_001009909,AC023869,AC040968,AC067902,AC087373,AC115990,AC135168,CH471064,AK126974,AK127695,AK309077,AL832641,AY164460,AY358386,BC042863,BC132829,BC144177,BC151234,X81895 NP_001009909,EAW68308,BAC87089,CAD90000,AAQ88752,AAI32830,Q86TE4,ADR83136 Hs.144138,Hs.655032 FLJ45795|KFSP2566|PRO6246 leucine zipper protein 2 protein-coding 1352485 LUZP4 leucine zipper protein 4 16344560,14702039,12032826,11051238,12477932 51213 NM_016383,AL109751,CH471120,AF124430,AK093369,AK314765,AW118228,BC128134,BC128135,DB041564,NG_021297,HC044609 NP_057467,CAC09922,CAI42482,EAX02616,AAF28870,BAG52698,BAG37303,AAI28135,AAI28136,Q5JX98,Q9P127,CBH30634 Hs.242183 CT-8|CT28|HOM-TES-85 CT-28|HOM-TES-85 tumor antigen|OTTHUMP00000023875|cancer/testis antigen 28|leucine zipper protein 4|tumor antigen HOM-TES-85 protein-coding 2290193 LUZP6 leucine zipper protein 6 A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 genes, which are located on chromosome 7. A cryptic ORF at the 3' end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq] 16982933,16344560 767558 AC015987,CH236950,AF130088,AL834231,AY611627,CB530008,DA325130,NG_008063,NM_001128619 AAG35514,CAD38909,AAU14892,Q538Z0,NP_001122091 Hs.602015 MPD6|MTPNUT leucine zipper protein 6|myeloproliferative disease-associated 6 kDa antigen|myeloproliferative disease-associated SEREX antigen|myeloproliferative disease-associated antigen, 6-kD|myotrophin 3'UTR transcript protein-coding 1345850 LUZPP1 leucine zipper protein pseudogene 1 11896456 83598 NG_005650,AC104304,AJ312775 CAC37400,Q9BQQ8 LUZP3|LUZPP1 pseudo 1604505 LVRN laeverin 19578876,17525158,16804865,15897020,15489334,14706636,14702039,12477932,19819873,20379614 206338 NM_173800,AC010282,AC034236,CH471086,AK027809,AK075131,AK291655,AY560010,BC036440,BC045809,BC060869,BC068560,BC070028,BC094716,BC109022,BC109023,BX096521,CR608077 NP_776161,EAW48946,EAW48947,EAW48948,EAW48949,EAW48950,BAC11422,BAF84344,AAS66719,AAH60869,AAH68560,AAI09023,AAI09024,Q0P5U8,Q6Q4G3 Hs.98288 APQ|FLJ90650|LVRN|MGC125378|MGC125379 AP-Q|CHL2 antigen|OTTHUMP00000222937|aminopeptidase Q protein-coding 737325 LXN latexin This gene encodes the only known protein inhibitor of zinc-dependent metallocarboxypeptidases. [provided by RefSeq] 1580863 17353931,15738388,15489334,12477932,11455960,17207965 56925 NM_020169,AC025033,AC080013,AF303587,CH471052,AF087851,AF282594,AF282626,BC005346,BC008438,CR605027,CR622283 ACE87409,NP_064554,AAL09331,EAW78683,EAW78684,AAP97162,AAK69518,AAF82807,AAH05346,AAH08438,Q9BS40,ACE86723,ADQ32822 Hs.478067 ECI|TCI MUM|endogenous carboxypeptidase inhibitor|latexin|tissue carboxypeptidase inhibitor protein-coding 1314571 LY6D lymphocyte antigen 6 complex, locus D 1580863 7790363,17474147,15489334,15340161,12477932,9551972,9366413,8889548,17207965 8581 NM_003695,AC083841,CH471162,U66837,Y12642,AK312164,BC022806,BC031330,BC034542,BM019592,BU689475,X82693 NP_003686,EAW82297,EAW82298,AAB07524,CAA73189,BAG35098,AAH22806,AAH31330,AAH34542,CAA58014,Q14210,Q8N4D8,ADQ32149 Hs.415762 E48|Ly-6D e48 antigen|lymphocyte antigen 6D protein-coding 1351321 LY6E lymphocyte antigen 6 complex, locus E 1580863 16712791,8650192,18755862,15489334,12516096,12477932,11784869,11576217,9575182,9551972,9373149,9366413,8757598,8125298,18990604,19672991,20237496 4061 U66711,NM_002346,NM_001127213,AC083982,CH471162,AF085875,AK129615,AK223074,AK311983,BC003392,BC119708,BC119709,BU625581,CB138313,CR593133,CR593361,CR593965,CR594748,CR594916,CR597237,CR597286,CR599019,CR599186,CR601741,CR602572,CR603269,CR603365,CR606037,CR606634,CR606660,CR610259,CR620041,CR623247,DB458093,U42376,U56145,Z68179 NP_002337,NP_001120685,EAW82285,EAW82286,EAW82287,EAW82288,EAW82289,EAW82290,BAD96794,BAG34922,AAH03392,AAI19709,AAI19710,AAB07513,AAC50519,AAC50616,CAA92321,Q16553,Q53G57,Q7Z787 Hs.521903 RIG-E|RIGE|SCA-2|SCA2|TSA-1 ly-6E|lymphocyte antigen 6E|retinoic acid induced gene E|retinoic acid-induced gene E protein|stem cell antigen 2|thymic shared antigen 1 protein-coding 1349012 LY6G5B lymphocyte antigen 6 complex, locus G5B LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 19143814,19023099,17975119,17008713,12079290,8812450,19913121,20628086,19851445 58496 AL670886,AL805934,BA000025,BX511262,CH471081,CR354443,CR753842,CR759761,AJ245417,AJ315545,AK289364,CF264683,AL662899,NM_021221,AF129756 CAI18396,CAI17802,CAI17803,CAI18525,CAI18526,BAB63385,EAX03476,EAX03477,CAQ07005,CAQ06575,CAQ10882,CAB52191,CAC85543,BAF82053,Q5SQ63,Q5SRQ2,Q5SST4,Q8NDX9,AAI40261,AAI46530,AAI72589,NP_067044,AAF04397 Hs.708719 C6orf19|G5b OTTHUMP00000060099|lymphocyte antigen 6 complex locus protein G5b|lymphocyte antigen-6 G5B protein-coding 1346509 LY6G5C lymphocyte antigen 6 complex, locus G5C LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 18835879,12079290,19851445 80741 AF129756,AL662899,AL670886,AL805934,BA000025,BX511262,CH471081,AA179679,AA731226,AJ315540,AJ315541,AJ315542,AJ315543,AJ315544,NM_025262,CR354443,CR753842,CR759761 NP_079538,AAD18080,CAI18398,CAI18399,CAI17805,CAI17806,CAI18528,CAI18529,BAB63384,CAM45829,EAX03478,EAX03479,EAX03480,EAX03481,CAC85522,CAC85542,Q5SQ59,Q5SRR3,Q5SRR4,Q5SST0,Q8NDY1,AAI40343,AAI41638,CAQ06576,CAQ07006,CAQ10883 Hs.25738 C6orf20|G5C|G5c|LY6G5CA|LY6G5CB|NG33 lymphocyte antigen 6 complex locus protein G5c|lymphocyte antigen-6 G5C protein-coding 1344908 LY6G6C lymphocyte antigen 6 complex, locus G6C LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 1304532 14656967,12975309,12477932,12079290,10384126,19913121,20628086,19851445 1304532 80740 NM_025261,AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AJ315533,AJ315534,AY359119,BC036302 NP_079537,AAD18076,CAB46081,CAI18405,CAI17812,CAM45766,BAB63379,CAM26091,EAX03490,EAX03491,CAQ07016,CAQ10104,CAQ08889,CAC85539,AAQ89477,AAH36302,O95867,Q5SRS8 Hs.241586 C6orf24|G6c|NG24 lymphocyte antigen 6 complex locus protein G6c|lymphocyte antigen-6 G6C protein-coding 1354154 LY6G6D lymphocyte antigen 6 complex, locus G6D LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 12477932,19423540,19807019,20406964,20438785,12079290,10384126 58530 NM_021246,AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AJ315535,AJ315536,AJ315537,BC125138 NP_067069,AAD18077,CAB46082,CAI96148,CAI96154,CAM25032,CAM25033,CAM45764,CAM45765,BAB63380,EAX03486,CAQ07014,CAQ07015,CAQ10102,CAQ10103,CAQ08887,CAQ08888,CAC85540,CAC85541,AAI25139,O95868,Q4VX49,Q8NDY2 Hs.591792 C6orf23|G6D|LY6-D|MEGT1|MGC150334|NG25 lymphocyte antigen 6 complex locus protein G6d|lymphocyte antigen-6 G6D|megakaryocyte-enhanced gene transcript 1 protein|protein Ly6-D protein-coding 1348643 LY6G6E lymphocyte antigen 6 complex, locus G6E LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 19116923,17008713,16344560,12477932,12079290,10553908,10384126,19851445 79136 NR_024541,NR_003673,AF129756,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AJ245419,AJ315538,AJ315539,BC069141,DA786728 AAF04398,CAM25667,CAM25668,CAM25030,CAM25031,CAM45762,CAM45763,BAB63381,EAX03488,EAX03489,CAB52193,Q9UKT1 Hs.247883 C6orf22|FLJ50806|G6e pseudo 1342827 LY6G6F lymphocyte antigen 6 complex, locus G6F The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM] 12852788,12477932,20587610,19851445 259215 NM_001003693,BC137213,AF129756,AL662899,AL670886,AL805934,BA000025,BX248244,CH471081,CR354443,CR753842,CR759787,AJ496460,BC137212 AAD18078,CAI18402,CAI17809,CAI18532,BAB63382,EAX03487,CAQ07010,CAQ06581,CAQ10098,CAD42968,AAI37213,NP_001003693,AAI37214,Q5SQ64 Hs.591794 C6orf21|G6f|LY6G6D|NG32 lymphocyte antigen 6 complex locus protein G6f protein-coding 1323593 LY6H lymphocyte antigen 6 complex, locus H 1580863 9799603,15489334,15342556,12477932,3028776,16169070,20237496 4062 NM_001130478,NM_001135655,NM_002347,AC083982,CH471162,AB012293,AK314139,BC028894,BC030192,BC053355,BI914261,BP347868,CR457034,DB471677,DB502453 ABM84514,ABM85870,NP_001123950,NP_001129127,NP_002338,EAW82277,EAW82279,BAA34115,BAG36829,AAH28894,AAH30192,CAG33315,O94772 Hs.159590 NMLY6 ly-6H|lymphocyte antigen 6H protein-coding 1345514 LY6K lymphocyte antigen 6 complex, locus K 737633 18089789,14702039,12516096,12477932,18029348,20237496 737633 54742 NM_017527,NM_001160355,AC108002,CH471162,AI740834,AJ001348,AK092545,BC001291,BC117142,BC117144,BE258596,BG491223,CB528496,CR590427,NM_001160354 NP_059997,NP_001153827,EAW82310,EAW82311,CAA04692,AAH01291,AAI17143,AAI17145,Q17RY6,NP_001153826 Hs.69517,Hs.716823 CT97|FLJ35226|HSJ001348 cancer/testis antigen 97|ly-6K|lymphocyte antigen 6K protein-coding 1343680 LY75 lymphocyte antigen 75 9553150,18519810,17592270,17229838,12824192,11058570,10980384,10233701,9862343,8855966,8595155,19203752,19706888,20237496,11337467,12477932,16344560 4065 NM_002349,AC009961,AC093873,AB208915,AF011333,AF064827,AK310678,AA279177,AU099700,BC057232,DB135177,DB146492,DB150194 NP_002340,AAY14943,AAY24189,BAD92152,AAC17636,AAC62622,O60449,Q59H44,AAI72265 Hs.153563 CD205|CLEC13B|DEC-205|GP200-MR6|LY-75 C-type lectin domain family 13 member B|OTTHUMP00000220536|OTTHUMP00000220537|ly-75|lymphocyte antigen 75 protein-coding 1320546 LY86 lymphocyte antigen 86 1580863 20038947,20237496,12477932,10079183,9686597,17207965,20935629,14574404,9763566,19255686,18001295,16907704,15489334,15340161 9450 NM_004271,AL031123,CH471087,AB020499,AF057178,AY931019,BC038846,CD695164 ADQ32509,NP_004262,CAB76262,EAW55191,EAW55192,BAA76410,AAC98152,AAY17402,AAH38846,O95711 Hs.653138 MD-1|MMD-1|RP1-80N2.1|dJ80N2.1 MD-1, RP105-associated|OTTHUMP00000015993|ly-86|lymphocyte antigen 86|protein MD-1 protein-coding 1318055 LY9 lymphocyte antigen 9 LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM] 1580863 18216865,16710414,16365421,15905546,15879090,12621057,12477932,12242590,11689425,11477068,11389028,11369645,10970093,9110174,8619474,8537117,7797269,20237496,17207965 4063 AF055708,AF055709,AF244129,AK128573,AK292048,AK303403,AY007142,BC027920,BC042905,BC062589,BC064485,BC121049,BG546913,CR590858,CR595208,L42621,NM_001033667,AL121985,AL354714,CH471121,NM_002348 AAF21753,AAF21754,AAG14995,BAF84737,BAG64457,AAG02002,AAH27920,AAH64485,AAI21050,AAA92623,Q05CA2,Q0VAI0,Q5VYH7,Q5VYH8,Q5VYH9,Q5VYI1,Q6P2J4,Q9HBG7,Q9UIB4,Q9UIB5,EAW52701,NP_002339,NP_001028839,CAH73509,CAH73510,CAH73511,CAH73512,CAH73513,CAH72350,CAH72360,CAH72361,CAH72362,CAH72363,EAW52695,EAW52696,EAW52697,EAW52698,EAW52699,EAW52700,ADQ32178 Hs.403857 CD229|SLAMF3|hly9|mLY9 OTTHUMP00000025671|T-lymphocyte surface antigen Ly-9|cell surface molecule Ly-9|cell-surface molecule Ly-9 protein-coding 1349135 LY96 lymphocyte antigen 96 The MD-2 protein appears to associate with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. [provided by RefSeq] 1580863 18845299,18810425,18650420,18559343,18519568,18424732,18384879,18325643,18251133,18215718,18181766,17977838,17956942,17934216,17803912,17592304,17569869,17545685,17404865,17093906,16940155,16785528,16754682,16547263,16338228,16275943,16177092,15694388,15557191,15489334,15337750,15328161,15121639,15111623,15057266,14607928,12960171,12754215,12738639,12642668,12594207,12477932,12324469,11976338,11923281,11717200,11593030,11466383,10359581,19252480,15276183,12447442,14556004,14625308,16024789,19423540,19321453,19254290,19201903,19200604,19064998,18991397,11160242,10891475,19710105,20730709,11435474,20592019,19209789,19556306,19584052,19632992,19783674,19840833,20018893,20092898,20377740,20435923,21037101,21048031 23643 NM_015364,AC022868,AC087672,CH471068,AB018549,AB446498,AF168121,BC020690,BG435728,NM_001195797,HI574322 NP_056179,EAW87024,BAA78717,BAG55275,AAF89635,AAH20690,Q9Y6Y9,NP_001182726,CBX47650 Hs.726603 ESOP-1|MD-2|MD2|ly-96 ESOP-1|ly-96|lymphocyte antigen 96|myeloid differentiation protein-2|protein MD-2 protein-coding 1604346 LYAR Ly1 antibody reactive homolog (mouse) 17353931,11256614,16381901,16169070,16083285,15489336,15489334,14702039,12477932,12429849,11790298,11230166,11076863,8491376,19710015 55646 NM_017816,NM_001145725,AC011744,CH471131,AF229835,AI418609,AK000432,AK290750,AL136750,BC015796,BQ775341,CR533548,CR605760,CR609495,CR616708 NP_060286,NP_001139197,EAW82437,EAW82438,EAW82439,AAF42870,BAA91162,BAF83439,CAB66684,AAH15796,CAG38579,Q9NX58,CAL37754,CAL37964 Hs.425427 FLJ20425|ZLYAR cell growth-regulating nucleolar protein protein-coding 1602188 LYG1 lysozyme G-like 1 15489334,12975309,12574869,12477932,11329013 129530 NM_174898,AC079447,CH471127,AY358988,BC029126,BG194505 NP_777558,AAX93256,EAX01872,AAQ89347,AAH29126,Q8N1E2,ACE87338,ACE86656 Hs.164589 SALW1939 OTTHUMP00000203483|lysozyme g-like protein 1 protein-coding 1603530 LYG2 lysozyme G-like 2 The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq] 15815621,15489334,12574869,12477932,8889548 254773 NM_175735,AC079447,CH471127,AF323919,AY026238,BC100882,BC100883,BC100884,BC100885,BQ184834,BQ187749 NP_783862,AAX93255,EAX01873,EAX01874,AAO32945,AAK16605,AAI00883,AAI00884,AAI00885,AAI00886,Q496G2,Q86SG7 Hs.436468 LYGH|MGC119046|MGC119047|MGC119049 OTTHUMP00000161223|OTTHUMP00000203477|OTTHUMP00000203478|OTTHUMP00000203479|lysozyme g-like protein 2|lysozyme-like protein-coding 1343769 LYL1 lymphoblastic leukemia derived sequence 1 1580863 2752424,18160048,16094422,15489334,15057824,12477932,10023675,8649774,8628307,8432525,7957052,2268576,2067848,1763056,9242638,19176012,19608273,19671288,20418284,16344560 4066 NM_005583,AC005546,AC007787,CH471106,M22638,BC002796,CR608162,CR626486,M22637,NG_027756,AI554151,BI908195,DB036722 NP_005574,AAC33149,EAW84344,AAA92488,AAH02796,AAA88084,AAA88085,P12980 Hs.46446 bHLHa18 class A basic helix-loop-helix protein 18|lymphoblastic leukemia-derived sequence 1|protein lyl-1 protein-coding 732668 LYN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 2303708,1581410,2303711,1580863 20693279,20962850,20679348,7859737,8753773,9020138,10748115,3561390,7650013,18029348,11313396,10858437,19492092,19369946,19258394,19234487,19086053,18817770,18802065,18768392,18579528,18577747,18457834,18391951,18363812,18272395,18235045,18174230,18086677,18070987,17701175,17692281,17233630,17230226,17192257,17081983,16791881,16687414,16597828,16568084,16467205,16320343,16249387,15795233,15744341,15665117,15592455,15546919,15501776,15489334,15262430,15190072,15173188,15166241,15144186,14969582,14667819,14662334,12882960,12846735,12642697,12588871,12586738,12538589,12509383,12496276,12495897,12477932,12468540,12393728,12181444,12149655,12096713,12095152,11971018,11943772,11877294,11826756,11825908,11823534,11782428,11744621,11739737,11602604,11598012,11594778,11536198,11526478,11524430,11517336,11514608,11443118,11389892,11388899,11358993,11311138,11301322,11226282,11162638,11131153,11104670,11071635,11046148,11042209,10945997,10945993,10942405,10933394,10872802,10790433,10749872,10733577,10633085,10586033,10574931,10564259,10488096,10469124,10432313,10415030,10403844,10362357,10339479,10327049,10318860,10206997,10066823,10026222,9973406,9892651,9892356,9837776,9820500,9748231,9712716,9687533,9633884,9581808,9573010,9531288,9446655,9427690,9341198,9202419,9195899,9171348,9104825,9045636,8943850,8943427,8910336,8885868,8806683,8756631,8705993,8692915,8657103,8647200,8630736,8629002,8621719,8621063,8612628,8395016,8197119,8125304,8114715,8084605,8058772,8051175,7895172,7831290,7682714,7682059,7636265,7612892,7589101,7575560,7568175,7545683,7528770,7516469,7515933,2505253,2247464,2065070,1998697,1722201,1720539,1715582,1689310,1602151,1557373,1544885,1510669,1508184,16849330,16621960,16454711,15638726,15078178,12734410,10642173,10544125,7516335,16640565,12138090,9169439,10981967,9268059,9590210,10748054,10228003,12244174,9169421,12750561,17353931,14993658,10571082,10428862,10891478,11306681,12456510,12810716,16118313,16316995,16374509,16799092,17164290,17254966,19290526,19340007,19356729,19590497,19619611,19641380,19710703,19807924,19893451,19965664,20056178,20079716,20189992,20215510,20379614,9028946,9295288,9819391,20561033,20605918,21106848,15784897,20546612 2303708,1581410,2303711 4067 NM_002350,NM_001111097,AC018607,AC046176,CH471068,AK130135,AK290494,AK298677,BC059394,BC068551,BC075001,BC075002,BC126456,BC126458,CB990993,CN480554,CR621022,M16038,M79321 NP_002341,NP_001104567,EAW86764,EAW86765,EAW86766,EAW86767,EAW86768,BAF83183,BAG60841,AAH59394,AAH68551,AAH75001,AAH75002,AAI26457,AAI26459,AAA59540,AAB50019,P07948,Q6NUK7 Hs.491767 FLJ26625|JTK8 Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog|lyn protein non-receptor kinase|tyrosine-protein kinase Lyn protein-coding 1604308 LYNX1 Ly6/neurotoxin 1 This gene encodes a member of the Ly-6/neurotoxin gene family, a group of lymphocyte antigens that attach to the cell surface by a glycosylphosphatidylinositol anchor and have a unique structure showing conserved 8-10 cysteine residues with a characteristic spacing pattern. Functional analysis indicates that this protein is not a ligand or neurotransmitter but has the capacity to enhance nicotinic acetylcholine receptor function in the presence of acetylcholine. This gene may also play a role in the pathogenesis of psoriasis vulgaris. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq] 18559515,17643396,17089039,16575903,12975309,12573258,12477932,19639180,20379614,10402197,8889548 66004 NM_023946,NM_177458,NM_177457,NM_177477,NM_177476,AC083841,CH471162,AB081838,AF321824,AI494395,AK123335,AK126845,AL353948,AW449754,AY358417,AY587277,BC014560,BC047923,BI603715,BM172253,BQ685632,BU683767,DB501423 NP_076435,NP_803253,NP_803252,NP_803430,NP_803429,EAW82299,EAW82301,EAW82302,EAW82303,EAW82304,EAW82306,BAC56859,AAK01642,AAQ88783,AAT00512,Q86SR0,Q9BZG9 Hs.158665,Hs.604828 MGC40364|SLURP2 Ly-6 neurotoxin-like protein 1|SLURP-2|ly-6/neurotoxin-like protein 1|secreted Ly-6/uPAR-related protein 2|secreted Ly6/uPAR related protein 2 protein-coding 1349683 LYPD1 LY6/PLAUR domain containing 1 737633,1580863 16413018,16368877,16344560,16303743,15489334,14702039,12975309,12477932,16712791,20379614 737633 116372 NM_144586,AC010974,AC079773,CH471058,CS051317,AI150931,AK075487,AK094501,AK123029,AK130005,AK309668,AK309849,AY358628,BC011449,BC017318,BC040046,BE386060,NM_001077427,BG057775,BY800190,CB110132,CR601943,DA687169,DA776269 NP_001070895,NP_653187,AAX93206,AAX93107,EAX11673,EAX11674,EAX11675,EAX11676,EAX11677,CAI72153,BAC11647,BAC04368,BAC85518,BAC85273,AAQ88991,AAH17318,AAH40046,Q53RU6,Q53T92,Q8IXM0,Q8N2G4 Hs.432395 FLJ41033|LYPDC1|MGC29643|PHTS ly6/PLAUR domain-containing protein 1|putative HeLa tumor suppressor protein-coding 1352251 LYPD2 LY6/PLAUR domain containing 2 15489334,12975309,12477932 137797 CH471162,NM_205545,AC083841,AK290331,AY358432,BC119019,BC119812 NP_991108,EAW82307,BAF83020,AAQ88798,AAI19020,AAI19813,Q6UXB3 Hs.441280 LYPDC2|MGC148106|UNQ430 RGTR430|ly6/PLAUR domain-containing protein 2 protein-coding 70834 LYPD3 LY6/PLAUR domain containing 3 15012588,18979631,17912244,17849475,17706320,16344560,16303743,15489334,15342556,15057824,12975309,12592373,12477932,11245483,11179665,12477722,20825414,17207965 27076 CR622986,NM_014400,AC018758,CH471126,AF082889,AJ223603,AK075464,AK290905,AK314773,AY359006,BC039167,BC041061,BP367221,CR591150,CR596404,CR610737,CR611777,CR620698,DA837818,AL832153 NP_055215,AAG09062,EAW57190,AAD13751,CAA11469,BAG52146,BAF83594,BAG37310,AAQ89365,AAH39167,O95274,Q5JPJ9,CAI46120,ADQ31960 Hs.631594 C4.4A 2310061G07Rik|GPI-anchored metastasis-associated protein C4.4A homolog|GPI-anchored metastasis-associated protein homolog|MIG-C4|ly6/PLAUR domain-containing protein 3|matrigel-induced gene C4 protein protein-coding 1602183 LYPD4 LY6/PLAUR domain containing 4 15489334,12975309,12477932 147719 NM_173506,AC010616,AC020956,CH471126,AK292305,AY358726,AY771680,BC034629 NP_775777,EAW57066,EAW57067,BAF84994,AAQ89088,AAX08121,AAH34629,Q6UWN0 Hs.98660 MGC42718|SMR ly6/PLAUR domain-containing protein 4|sperm membrane receptor protein-coding 1604488 LYPD5 LY6/PLAUR domain containing 5 19913121,20628086,16344560,15489334,15340161,14702039,12975309,12477932 284348 NM_182573,NM_001031749,AC011508,AC115522,CH471126,AK055031,AK301693,AY358719,BC044237,BC057816,CF529795,CR590066,DA286806,DC364960 NP_872379,NP_001026919,EAW57232,BAB70840,BAG63165,AAQ89081,AAH57816,Q6UWN5 Hs.44289 FLJ30469|PRO4356 ly6/PLAUR domain-containing protein 5|metastasis-associated protein protein-coding 1605579 LYPD6 LY6/PLAUR domain containing 6 19653121,20379614,15489334,15340161,14702039,12975309,12477932,16344560 130574 NM_194317,AC007394,CH471058,AK055699,AK124733,AK309248,AL831852,AY358623,BC032836,BC047013,BX105614,DA246384,NM_001195685,R45082 BAG54082,NP_919298,AAY14698,EAX11538,EAX11539,EAX11540,CAH56278,AAQ88986,AAH32836,AAH47013,Q86Y78,NP_001182614 Hs.21929 MGC52057 ly6/PLAUR domain-containing protein 6 protein-coding 1602653 LYPD6B LY6/PLAUR domain containing 6B 12477932,18360792,20379614 130576 NM_177964,AC009230,AC073271,CH471058,AF435957,BC018203,BC040176 NP_808879,AAY14974,AAY24304,EAX11541,EAX11542,EAX11543,AAM20908,AAH18203,AAH40176,Q8NI32 Hs.357567 CT116 OTTHUMP00000204362|OTTHUMP00000204363|cancer/testis antigen 116|ly6/PLAUR domain-containing protein 6B protein-coding 735384 LYPLA1 lysophospholipase I Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine in both monomeric and micellar forms. The use of alternate polyadenylation sites has been found for this gene. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq] 1580863 10064899,19465924,15489334,12477932,11080636,11042152,10760470,10395961,9110174,8619474,1531641,19439193,20418879,20685872 10434 NM_006330,AC100821,CH471068,AF035293,AF052112,AF077198,AF077199,AF081281,AF291053,AK289400,AK298206,AK307277,AK313739,BC008652,BC010397,CR457103 NP_006321,EAW86742,EAW86743,EAW86744,EAW86745,EAW86746,AAB88180,AAD26993,AAD26994,AAC31610,AAG10063,BAF82089,BAG60476,BAG36480,AAH08652,AAH10397,CAG33384,O75608,Q6IAQ1,ABM82453,ABM85643 Hs.435850 APT-1|LPL1|LYSOPLA|hAPT1 LPL-I|acyl-protein thioesterase 1|acyl-protein thioesterase-1|lysoPLA I|lysophospholipase 1|lysophospholipid-specific lysophospholipase protein-coding 733893 LYPLA2 lysophospholipase II Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq] 1580863 16806233,16710414,15489334,12477932,10395961,16169070 11313 CR624649,CR623546,AL031295,CH471134,AF090423,AF098668,AK024724,BC017034,BC017193,CR590473,CR593399,CR595388,CR597442,CR601116,CR605174,CR605682,CR606705,CR607318,CR609115,CR614223,CR614434,CR619727,CR621740,NM_007260 O95372,Q5QPN5,Q5QPN9,Q5QPQ0,ABM87823,ABW03732,NP_009191,CAB40158,CAI23143,CAI23144,CAI23145,CAI23146,CAI23147,CAI23148,EAW95077,EAW95078,EAW95079,EAW95080,EAW95081,EAW95082,AAP97210,AAC72844,AAH17034,AAH17193 Hs.533479 APT-2|DJ886K2.4 LPL-II|OTTHUMP00000003001|OTTHUMP00000037932|OTTHUMP00000037934|acyl-protein thioesterase 2|lysoPLA II protein-coding 1601894 LYPLA2P1 lysophospholipase II pseudogene 1 19851445 653639 NR_001444,AL050332,AL662799,AL662827,BX248088,NG_027926,CR759793,CT009514 APT|LYPLA2L|dJ570F3.6 pseudo 1322525 LYPLAL1 lysophospholipase-like 1 20703240,20724581,20935629,12706107,16710414,16344560,15489334,12477932,19557161 127018 NM_138794,AL360093,CH471100,CS185550,AK123628,AK129913,AK291542,AK309689,AY341430,BC016711,BF115063,CR593519,DA822882 NP_620149,CAH70459,CAH70460,EAW93319,EAW93320,EAW93321,EAW93322,EAW93323,CAJ42731,BAG53925,BAF84231,AAQ17077,AAH16711,Q5VWZ2 Hs.657617 FLJ99730|KIAA1238 lysophospholipase-like protein 1 protein-coding 1601746 LYRM1 LYR motif containing 1 20877624,19284880,19022914,16344560,15489334,12477932,10493829 57149 NM_001128302,AC002394,CH471228,AK308690,AK310055,AK311415,AK311881,AL359616,BC017039,BI547471,CD237780,CR591271,CR592215,CR600639,CR601839,CR607148,CR620481,CX163936,DB054440,NM_020424,NM_001128301 NP_065157,NP_001121773,NP_001121774,AAC05810,EAW66843,EAW66844,EAW66845,EAW66846,EAW66847,EAW66848,EAW66849,BAG34822,AAH17039,O43325 Hs.185489 A211C6.1 LYR motif-containing protein 1|OTTHUMP00000162292 protein-coding 1603386 LYRM2 LYR motif containing 2 16344560,7829101,17207965,15489334,15342556,14702039,12477932 57226 AK311151,AK311275,AV710669,DA160441,NR_028493,NR_028494,NR_028495,NM_020466,AL096678,CH471051,AK024783,AK094994,AK311180,AL122090,BC009782,BC104668,BI492982,BP280644 ADQ33179,NP_065199,EAW48547,EAW48548,EAW48549,AAH09782,AAI04669,Q9NU23,ACE87099,ACE86424 Hs.177275 DJ122O8.2|FLJ18193|FLJ18317|FLJ21130|MGC104253 LYR motif-containing protein 2 protein-coding 1345825 LYRM4 LYR motif containing 4 19760754,20877624,20886065,21072187,19422935,19174780,19068216,17331979,16341090,15489334,14574404,12477932,11342225,8889548,19913121,20628086,19454487 57128 NM_020408,AL035653,AL121978,AL162381,CH471087,AF088060,AF170070,AF258559,AF285118,AK291158,AK309661,BC009552,BC067762,BC105601,BI226933,BM984752,BX446965,CR607654,CR620170,CR605553,CR612610,AA764791,BI753819,BI758258,BX353584,CK819966,NM_001164840,NM_001164841 NP_065141,EAW55176,EAW55177,EAW55178,AAF25797,AAG23762,AAG01155,BAF83847,AAH09552,Q8WY88,Q9HD34,ACE87317,ACE86635,NP_001158312,NP_001158313 Hs.387755 C6orf149|CGI-203|ISD11 LYR motif-containing protein 4|homolog of yeast Isd11|mitochondrial matrix Nfs1 interacting protein protein-coding 1606960 LYRM5 LYR motif containing 5 15489334,14702039,12477932,20877624,17207965 144363 NM_001001660,AC092794,CH471094,AK057730,AK095164,BC071769,BC100276,BG771497,CR593194,CR601350,CR616971 NP_001001660,EAW96510,AAH71769,AAI00277,Q6IPR1,ADQ32000 Hs.209151 LYR motif-containing protein 5 protein-coding 1602082 LYRM7 Lyrm7 homolog (mouse) 19240061,15489334,14702039,12477932,20877624 90624 NM_181705,AC004650,AC005179,CH471062,AK000803,AK056991,BC022429,BC037930,BC047079,BI601105 NP_859056,EAW62375,AAH37930,AAH47079,Q5U5X0 Hs.115467 C5orf31|FLJ20796|MGC24679 LYR motif containing 7|LYR motif-containing protein 7|OTTHUMP00000223170 protein-coding 1603473 LYSMD1 LysM, putative peptidoglycan-binding, domain containing 1 16710414,16344560,15489334,12477932,17207965 388695 NM_001136543,NM_212551,AL592424,CH471121,AK298706,AK298814,AL122088,AY037156,BC031649,BX647911,DA176882 NP_001130015,NP_997716,CAI16380,EAW53467,BAG60863,BAG60947,CAH10716,AAK67635,AAH31649,CAH10574,Q96S90,ADQ31937 Hs.591482 MGC35223|RP11-68I18.5|SB145 lysM and putative peptidoglycan-binding domain-containing protein 1 protein-coding 1605838 LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 15592455,12477932,15489334 256586 NM_001143917,NM_153374,AC026770,CH471082,AK129759,AY125955,BC022075,BC033515,BI822634,BQ446302,CR611936,CR612344,CR624697,CR936638 NP_001137389,NP_699205,EAW77427,AAM94507,AAH22075,AAH33515,CAI56778,Q8IV50,ABM83350,ABM86564 Hs.603629 DKFZp686I2243|MGC35274 lysM and putative peptidoglycan-binding domain-containing protein 2 protein-coding 1606178 LYSMD3 LysM, putative peptidoglycan-binding, domain containing 3 16381901,15489336,15489334,14702039,12477932,11230166,11076863 116068 BC136741,BX500166,BX537972,CR933624,NM_198273,AC027323,CH471084,CS300697,AK023604,AK291478,AL137315,AL832721,BC058027,BC136740 AAI36741,AAI36742,CAD97936,CAI45934,Q7Z3D4,CAL38090,CAL38656,AAI46688,NP_938014,EAW95984,CAK32361,BAF84167,CAB70692,AAH58027 Hs.136235 DKFZp686F0735|FLJ13542 OTTHUMP00000222490|OTTHUMP00000222491|lysM and putative peptidoglycan-binding domain-containing protein 3 protein-coding 1606711 LYSMD4 LysM, putative peptidoglycan-binding, domain containing 4 15489334,14702039,12477932,20379614 145748 NM_152449,AC022692,CH471101,AK056718,AK057570,AK124852,AK290296,BC041097,BC084545,BG420645,BX640928,CB989579,CR614946 NP_689662,EAX02253,EAX02254,EAX02255,EAX02256,BAB71528,BAG54106,BAF82985,AAH41097,AAH84545,CAE45966,Q5XG99,Q6MZR2 Hs.562568 FLJ33008|MGC99501 OTTHUMP00000194789|lysM and putative peptidoglycan-binding domain-containing protein 4 protein-coding 1604070 LYST lysosomal trafficking regulator This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene are associated with Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternatively spliced transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq] 11984006,9606205,6154765,10648412,18043242,16710414,14759258,12753649,12477932,12446740,12125812,11857544,11102458,10737800,10482950,9215680,9215679,8896560,8751864,8751863,8717042,6445041,15896657,20463881 1130 NM_000081,NG_007397,AL121997,AL133286,AL390765,CH471098,AK307457,AK310790,BC033098,BC144702,BI031463,BX649113,CD702969,L77889,U67615,U70064,U72192,U84744 NP_000072,CAI18987,CAI14952,EAW70034,EAW70035,EAW70036,EAW70037,EAW70038,AAI44703,AAB51608,AAB41309,AAB41533,AAB39697,AAB87737,Q99698 Hs.532411 CHS|CHS1 Chediak-Higashi syndrome 1|OTTHUMP00000038327|beige homolog|beige protein|lysosomal-trafficking regulator protein-coding 1322012 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq] 10037799,19291537,19033446,18689706,18564921,18386053,18342921,20191305,18181096,18090227,18078989,17884820,17087938,16569201,16424896,16344560,16335952,16303743,15489334,12975309,12912978,12554094,12477932,12091407,11719431,11689016,19742347,19908110,20011036 10894 NM_006691,AC009532,CH471064,CS051263,AF118108,AF127670,AK075443,AK300885,AK312462,AY358925,BC026231,CA449932,CR595979,CR597409,CR598440,CR598862,CR599107,CR604450,CR605021,CR612000,CR614245,CR614790,CR622723,DA924658 NP_006682,EAW68565,CAI72127,AAD42764,AAD49220,BAG52138,BAG62527,BAG35369,AAQ89284,AAH26231,Q9Y5Y7,ABM82966,ABM86158 Hs.655332,Hs.727171 CRSBP-1|HAR|LYVE-1|XLKD1 cell surface retention sequence binding protein-1|cell surface retention sequence-binding protein 1|extracellular link domain containing 1|extracellular link domain-containing 1|extracellular link domain-containing protein 1|hyaluronic acid receptor|lymphatic vessel endothelial hyaluronic acid receptor 1 protein-coding 735254 LYZ lysozyme (renal amyloidosis) This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the anti-microbial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. Missense mutations in LYZ have been identified in heritable renal amyloidosis. [provided by RefSeq] 1599840,1599842 17353931,12477932,12183536,11986950,11946554,11946553,11927576,11887182,11849445,10561612,10558865,10534505,9883972,9757091,9745729,9659355,9359845,8765309,8566845,8503881,8464497,7334520,6876162,5284421,5168859,3413092,2971592,2546758,2207098,2061330,1794972,366724,19435495,19179970,18434581,18391951,18344136,18029788,17524359,17407782,17360367,17054380,16799949,16441658,16329101,16126226,16023673,15745733,15713462,15489334,15155566,14976184,12709420,12675840,12564923,2829884,19615732,20167661,20452482,2467766,20673868 1599840,1599842 4069 NM_000239,NG_008195,AC020656,CH471054,X14008,AK130127,AK130149,AK311779,BC004147,CR607267,CR615077,FJ795023,J03801,M19045,M21119,U25677 NP_000230,EAW97220,EAW97221,EAW97222,CAA32175,BAG34722,AAH04147,ACO37637,AAA59535,AAA59536,AAA36188,AAC63078,P61626,ABM83197,ABM86398 Hs.524579 LZM|lysozyme 1,4-beta-N-acetylmuramidase C|lysozyme|lysozyme C|renal amyloidosis protein-coding 1350038 LYZL1 lysozyme-like 1 737633 18519826,15489334,15342556,15164054,12975309,12477932,11329013,20379614 737633 84569 HC007138,NM_032517,AL158167,CH471072,AI393331,AY358694,BC021730,BF057063,BG209290,BP369317 CBH19374,NP_115906,CAI15232,EAW86025,AAQ89057,AAH21730,Q6UWQ5 Hs.558572 KAAG648|LYC2|MGC33408|PRO1278|bA534G20.1 lysozyme-like protein 1 protein-coding 1343889 LYZL2 lysozyme-like 2 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM] 1580863 18984674,16014814,15489334,15164054,12477932,17207965 119180 NM_183058,AL451107,CH471072,AF139543,AI637906,BC066294 NP_898881,CAH70607,EAW86003,AAP97272,AAH66294,Q7Z4W2,ADQ32989 Hs.522610 lysozyme 2|lysozyme-2|lysozyme-like protein 2 protein-coding 1348547 LYZL4 lysozyme-like 4 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM] 737633,1580863 16014814,15489334,12477932,17207965,21107309 737633 131375 AF326749,BC016747,NM_144634,AC092048,CH471055 EAW64648,AAO32946,AAH16747,Q96KX0,NP_653235,ADQ31748 Hs.234895 1810009N24Rik|LYC4|MGC26768 lysozyme-4|lysozyme-like protein 4 protein-coding 1342780 LYZL6 lysozyme-like 6 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL6 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM] 737633,1580863 16014814,15489334,12975309,12477932,10213461,11329013,17207965 737633 57151 NM_020426,AC004675,AF088219,CH471147,AY359018,AY742214,BC054481,HC007140,HC044567,BE550275,BG195727,DB462957,NM_001199951 NP_065159,AAC63332,EAW80115,AAQ89377,AAU93343,AAH54481,O75951,CBH19375,CBH30613,NP_001186880,ADQ32150 Hs.97477 1700023H08Rik|LYC1|PRO1485|TKAL754|UNQ754 OTTHUMP00000163949|lysozyme homolog|lysozyme-like protein 6 protein-coding 1319494 LZIC leucine zipper and CTNNBIP1 domain containing 2314410,1580863 20098747,16710414,15489334,12477932,11712074,17207965,19913121,20628086 2314410 84328 NM_032368,AL357140,CH471130,AB060688,AK312550,BC007240,BC063443,CR592365,CR600195,AK304348 NP_115744,CAI16887,EAW71633,EAW71634,BAB72100,BAG35447,AAH07240,AAH63443,Q8WZA0,BAG65192,ADQ32527 Hs.327252 MGC15436 OTTHUMP00000001733|OTTHUMP00000001734|leucine zipper and CTNNBIP1 domain-containing protein|leucine zipper and ICAT homologous domain-containing protein|leucine zipper domain and ICAT homologous domain containing|protein LZIC protein-coding 1315352 LZTFL1 leucine zipper transcription factor-like 1 14702039,12477932,11352561,20233871,20237496 54585 NM_020347,AC098476,AC099782,AJ289880,CH471055,AJ297351,AK024323,AK027165,AK093705,AK129805,AK303416,BC025988,BC042483,CR596073,CR608455,BX640604 NP_065080,CAB96873,EAW64749,EAW64750,CAB95836,BAG52751,BAG64469,AAH25988,AAH42483,CAE45710,Q9NQ48,ABW03334 Hs.30824 FLJ36386 OTTHUMP00000210185|leucine zipper transcription factor-like protein 1 protein-coding 1319250 LZTR1 leucine-zipper-like transcription regulator 1 This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq] 1580863 8619474,19851296,20198315,7633402,16356934,16344560,15761153,15489334,15461802,12477932,9110174 8216 NM_006767,AC002470,CH471176,AK296347,AK310747,AK313502,AL833698,BC026214,BQ019651,BQ182728,CR600642,CR601558,CT841521,D38496,DA194822,U79243 NP_006758,EAX02923,BAH12325,BAG36282,AAH26214,CAJ86451,BAA07508,Q6ZSY0,Q8N653,CAK54544,CAK54843,ABW03703,ABW03361 Hs.78788 LZTR-1|MGC21205|TCFL2 leucine-zipper-like regulator-1|leucine-zipper-like transcriptional regulator 1 protein-coding 736900 LZTS1 leucine zipper, putative tumor suppressor 1 1580863,1600104 17349584,10097140,18029348,19339270,18559591,15489334,12851677,12477932,12377406,11504921,11464283,18686028,19885841,20038947,20083228,20508983 1600104 11178 AC025853,AF123653,CH471080,AF123652,AF123654,AF123655,AF123656,AF123657,AF123658,AF123659,BC075006,BC075007,NM_021020,NG_015834,CR605260,HI573950 NP_066300,AAD23834,EAW63752,EAW63753,EAW63754,EAW63755,EAW63756,AAD23833,AAD23835,AAD23836,AAD23837,AAD23838,AAD23839,AAD23840,AAH75006,AAH75007,Q9Y250,ABZ92469,CBX47464 Hs.521432 F37|FEZ1 F37/Esophageal cancer-related gene-coding leucine-zipper motif|OTTHUMP00000122524|leucine zipper putative tumor suppressor 1|psd-zip70 2301749,2301750,2301751,2301752,2301753,2301754 PRSTS424_H,PRSTS421_H,PRSTS420_H,PRSTS425_H,PRSTS422_H,PRSTS423_H protein-coding 1343241 LZTS2 leucine zipper, putative tumor suppressor 2 16385451,20508983,18490357,17950943,16713569,16189514,15489334,14702039,12477932,11709705,11347906,17000760,8889548 84445 NM_032429,AL133215,CH471066,AB058716,AK097997,AK298208,AL834338,AY029201,BC005855,BC006212,BC058938,CR610713,BM544815,CB243010 NP_115805,CAI10926,CAI10927,CAI10928,CAI10929,EAW49790,EAW49791,EAW49792,BAB47442,BAG60478,CAD39005,AAK31577,AAH05855,AAH06212,AAH58938,Q9BRK4,Q9BRY6 Hs.523221 KIAA1813|LAPSER1|RP11-108L7.8 OTTHUMP00000020289|hLZTS2|leucine zipper putative tumor suppressor 2 protein-coding 1350209 M195 membrane external protein 195kDa 4079 1354089 M6PR mannose-6-phosphate receptor (cation dependent) The protein encoded by this gene is a receptor for mannose-6-phosphate groups on lysosomal enzymes. The receptor forms a homodimer or homotetramer for intracellular targeting of lysosomal enzymes and export of newly synthesized lysosomal enzymes into the cell secretions. The receptor is an integral membrane protein which localizes to the trans-Golgi reticulum, endosomes, and the plasma membrane. [provided by RefSeq] 1580863 10799489,12493773,19345684,19197942,18367545,18088323,18003638,17210618,15620351,15489334,15167696,15078902,14702039,12736721,12697764,12477932,11886874,11387475,11106728,10829017,9604938,9590177,9373149,8674621,8125298,8099077,7640295,2960682,2441386,2172972,1849818,19487139,19683778,20351714,17207965 4074 NM_002355,AC006581,CH471116,X56253,X56254,X56255,X56256,X56257,AK057556,AK222792,AK291143,AK312689,BC017111,BC024206,CR457412,CR616312,M16985 NP_002346,EAW88596,EAW88597,EAW88598,EAW88599,CAB94715,BAD96512,BAF83832,BAG35569,AAH17111,AAH24206,CAG33693,AAA59542,P20645,Q53GY9,Q6I9U3,Q96AH2,ADQ32047 Hs.134084 CD-MPR|FLJ32994|MPR46|SMPR 46 kDa mannose 6-phosphate receptor|46-kDa mannose 6-phosphate receptor|CD Man-6-P receptor|MPR 46|Mr 46,000 Man6PR|cation-dependent mannose-6-phosphate receptor protein-coding 1343845 M6PRBP1 mannose-6-phosphate receptor binding protein 1 Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. [provided by RefSeq] 1580863 9590177,19286631,18832575,18393390,17003132,16808905,16769818,16741517,15545278,15489334,15456905,15231748,14702039,12768012,12697764,12631276,12535272,12477932,12077142,12032303,11359012,11313361,10908666,10829017,10393528,9874244,9373149,8125298,6856484,15782153,20070608,20556887,16169070,16344560,18029348,19400954,19451273,19490898,19638644 10226 NM_005817,AC027319,CH471139,AF051314,AF051315,AF055574,AF057140,AK122671,AK223054,AK225045,AK225400,AK226088,AK291104,AK312740,BC001590,BC005818,BC007566,BC019278,BF222684,BG339642,BQ063091,BQ276395,BT007235,CR607156,NG_028080,BF683925,BQ057849,DB127412,DB248921,NM_001164189,NM_001164194 NP_005808,EAW69192,AAD11619,AAD11620,AAD11622,AAC39751,BAD96774,BAF83793,AAH01590,AAH05818,AAH07566,AAH19278,AAP35899,O60664,ABM83550,ABM86790,NP_001157661,NP_001157666 Hs.140452 M6PRBP1|MGC11117|MGC2012|PP17|TIP47 47 kDa MPR-binding protein|47 kDa mannose 6-phosphate receptor-binding protein|MPR-binding protein 47 kDa|cargo selection protein (mannose 6 phosphate receptor binding protein)|cargo selection protein TIP47|mannose-6-phosphate receptor binding protein 1|mannose-6-phosphate receptor-binding protein 1|perilipin-3|placental protein 17|tail-interacting protein, 47 kD protein-coding 1350753 MAA microphthalmia or anophthalmia and associated anomalies 4080 1343203 MAB21L1 mab-21-like 1 (C. elegans) This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq] 1580863 12477932,8733127,16344560,12826745,11526470,10556287,9950369 4081 NM_005584,AL390071,CH471075,AB073388,AK313185,BC028170,CR457420,CR624017,CR624056,DA611205,DA909813,NG_016811 NP_005575,CAI17181,EAX08547,BAE45718,BAG36002,AAH28170,CAG33701,Q13394,ABM82648,ABM85825 Hs.584776 CAGR1|FLJ10197|Nbla00126 mab-21-like protein 1|protein mab-21-like 1 protein-coding 1323458 MAB21L2 mab-21-like 2 (C. elegans) This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq] 10556287,14702039,12477932,17207965 10586 NM_006439,AC110813,AF155219,CH471056,AF262032,AF370007,AK055665,BC009983,CR620783 NP_006430,AAD40248,EAX04998,EAX04999,EAX05000,AAG09800,AAK54206,BAG51549,AAH09983,Q9Y586,ADQ32673 Hs.584852 FLJ31103 protein mab-21-like 2 protein-coding 1602631 MACC1 metastasis associated in colon cancer 1 MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM] 19098908,12477932,8889548,18029348,19499089,19556890,19787327,19807924,20944120,20682999 346389 NM_182762,AC005083,AC007001,CH236948,CH471073,AF086401,AJ313524,AK128850,AK131400,AL359055,BC137090,BC144470,CB240872 NP_877439,EAL24276,EAW93719,CAC86408,BAC87646,BAD18547,AAI37091,Q6ZN28 Hs.598388 7A5|SH3BP4L OTTHUMP00000201891|SH3 domain-containing protein 7a5|metastasis-associated in colon cancer protein 1|putative binding protein 7a5 protein-coding 1352225 MACF1 microtubule-actin crosslinking factor 1 The protein encoded by this gene belongs to the plakin family of cytoskeletal linker proteins. This protein family forms bridges between different cytoskeletal elements through specialized modular domains. The encoded protein is one of the largest size proteins identified in human cytoskeletal proteins. It has functional actin and microtubule binding domains, and it appears to stabilize actin at sites where microtubules and microfilaments meet. It may function in microtubule dynamics to facilitate actin-microtubule interactions at the cell periphery and to couple the microtubule network to cellular junctions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 19913121,20628086,20936779,10529403,10559237,11443112,17043677,19405953,17113391,17081983,16710414,16097034,16076900,15265687,15231748,14702039,14636561,12477932,12421765,12168954,11845288,11112700,10747097,10601340,15604093,20237496,20379614,10574462,20937854,9455484,7635207,1074709 23499 NM_033044,AF325327,AF325328,AF325341,AF325342,AF325343,AL137853,AL355477,NM_012090,AL356055,AL365277,AL442071,CH471059,L40626,AB007934,AB029290,AB033077,AF317696,AI400583,AK023285,AK023406,AK023821,AK127519,AK297854,AK299010,AK304414,BC007330,BC071925,BC107866,BX107650,BX647441,CR597314,HI574076,HI574078 NP_036222,NP_149033,AAL38995,AAL38996,AAL38997,AAL39000,AAL38998,AAL38999,CAI21814,CAI21815,CAI21816,CAI21817,CAI21818,CAH70156,CAI16411,CAI16416,CAI16417,CAI16420,CAI16422,CAI16424,CAI16426,CAH73668,CAH73669,CAH73671,EAX07274,EAX07275,EAX07276,EAX07277,EAX07278,EAX07279,EAX07280,EAX07281,EAX07282,AAC31661,BAA32310,BAA83821,BAA86565,AAL09459,BAB14509,BAC87016,BAG60186,BAG61091,BAG65245,AAH07330,AAH71925,AAI07867,Q13696,Q32Q32,Q6IPG6,Q6ZQZ4,Q6ZSD7,Q8WXX9,Q8WXY0,Q8WXY3,Q8WXY4,Q96IQ1,Q96PK2,Q9H8U2,Q9UPN3,CBX47527,CBX47528 Hs.472475 ABP620|ACF7|FLJ45612|FLJ46776|KIAA0465|KIAA1251|MACF|OFC4 620 kDa actin binding protein|OTTHUMP00000009302|actin cross-linking family protein 7|macrophin 1|microtubule-actin cross-linking factor 1|trabeculin-alpha protein-coding 1603052 MACROD1 MACRO domain containing 1 19403568,19022849,17914104,17532767,16831279,16368544,15691879,15489334,12790785,12578638,12477932,12107411,20355243,19824120,20035625 28992 NM_014067,AP000721,AP006333,CH471076,AF086206,AF202922,BC000270,BC003188,BC007297,BC008316,BQ637198 NP_054786,EAW74192,EAW74193,AAF15294,AAH00270,AAH03188,AAH07297,AAH08316,Q9BQ69 Hs.602898 LRP16 MACRO domain-containing protein 1 protein-coding 1347920 MACROD2 MACRO domain containing 2 20663923,20708005,19240061,18987618,18593871,17586838,16344560,12477932,19553259,19820697,19847924,20044523,20379614 140733 NM_001033087,AC006198,AL031677,AL035073,AL049633,AL049867,AL050324,AL079338,AL117333,AL118503,AL118510,AL121582,AL121584,AL132826,AL133462,AL136991,NM_080676,AL136992,AL138808,AL139825,AL158088,AL161800,AL353798,AL354773,AL355133,AL357654,CH471133,AK125899,AK131348,BC018687,BC035876,BC036403,BC101216,BC101217,BC101218,BC101219,BC126936,BC128036,BX281637,DB125529,DB495787,DR001087,EF159161 NP_542407,NP_001028259,CAH71976,CAM14046,CAQ08720,CAQ08721,CAI16368,CAM27056,CAQ06880,CAQ06881,EAX10302,BAG54262,BAD18504,AAH18687,ABM46908,A1Z1Q3 Hs.661576 C20orf133|RP11-189J1.1|dJ631M13.5 MACRO domain-containing protein 2|OTTHUMP00000200340 protein-coding 1347759 MACSL1 myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)-like 1 12140758,11950773,10830953,1427823 4083 NG_007487,AP000230 MACSL1 pseudo 1312218 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1599865 20544396,12006501,9546394,18029348,11181178,11804586,18981471,19010891,18922800,18491369,18318601,17998396,17674037,17333263,16964243,16713569,16565220,16341674,16288203,16189514,15489334,15782113,15302935,15282543,14978040,14702039,12876282,12853948,12477932,12351790,11980658,11423979,11370785,11106735,11101889,10597320,10593926,10366450,10229200,10198256,10049595,11707408,10660610,15388328,20624899,15694304,20889312,17363900,19762557,20379614,20516147,20677014 1599865 8379 NM_003550,NM_001013836,NM_001013837,NG_011518,AC005282,AC006433,AC069288,AC104129,AC110781,CH236953,CH471144,AF083811,AF123318,AK090959,AK310481,AK310831,AK314227,BC009964,BC018870,BM818088,BQ684437,BU617803,CR600439,U33822 NP_003541,NP_001013858,NP_001013859,AAS07503,AAP21876,EAL23947,EAW87219,EAW87220,AAD24498,AAD20359,BAG52253,AAH09964,AAC52059,Q9Y6D9,ACE87173,ACE86492 Hs.654838 HsMAD1|MAD1|PIG9|TP53I9|TXBP181 MAD1-like protein 1|OTTHUMP00000200097|OTTHUMP00000200098|OTTHUMP00000200099|hMAD1|mitotic arrest deficient 1-like protein 1|mitotic checkpoint MAD1 protein homolog|mitotic spindle assembly checkpoint protein MAD1|mitotic-arrest deficient 1, yeast, homolog-like 1|tax-binding protein 181|tumor protein p53 inducible protein 9 protein-coding 1322050 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq] 1580863 20459534,15484292,15457580,15306814,15257285,15070740,15024386,15013707,13678590,12970887,12640463,12574116,12477932,15489334,12456649,12351790,11912137,11907259,11572763,11551900,11134360,10706629,10660610,10527948,10366450,10200259,9736712,9637688,9628895,9615237,9546394,9373149,9345911,9092546,8125298,18592005,18997788,14607335,14561775,12196507,11707408,11438673,11274370,11741929,11799067,15694304,15525512,20923822,10700282,12006501,18022368,18022367,11285280,8824189,14593737,11181178,11535616,11742988,11804586,18981471,19461085,19276188,19261806,19154722,19098431,18852296,18715617,18712773,18692475,18691855,18597777,18541701,18477210,18423499,18383837,18354482,18318601,17998396,17934339,17621272,17498870,17353931,17333263,17268814,17210994,16714000,16525508,16497171,16495226,16214181,16189514,16112690,15591789,15563594,20624899,20189264,21041666,17363900,17443180,17443186,19229290,19468067,19615732,19620968,19719327,19904549,20007324,20132188,20332099,20440596,20516147,11459825,20190817 4085 AB056160,AC097173,AF202273,CH471056,AA443733,AF394735,AJ000186,AK223433,AK298228,AK313827,BC000356,BC005945,NM_002358,BC070283,CR605286,CR622828,CR623744 NP_002349,BAB63410,AAY40945,AAK38174,EAX05270,EAX05271,EAX05273,AAN74648,CAA03943,BAD97153,BAG60497,BAG36562,AAH00356,AAH05945,AAH70283,Q13257,Q8IZX3,ACE87428,ACE86742 Hs.591697 HSMAD2|MAD2 MAD2 (mitotic arrest deficient, yeast, homolog)-like 1|MAD2-like protein 1|mitotic arrest deficient 2-like protein 1|mitotic arrest deficient, yeast, homolog-like 1|mitotic spindle assembly checkpoint protein MAD2A protein-coding 1319368 MAD2L1BP MAD2L1 binding protein The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 18022368,12456649,10942595,19276188,17934339,16189514,16169070,15489334,15257285,14574404,12477932,11591653,7788527,19060904,17207965 9587 NM_001003690,NM_014628,AL136131,AL353602,CH471081,AA883912,AK297172,AL537692,BC002904,BE297042,BI255998,BU845738,CB991410,CR456893,CR595082,CR598493,CR601298,CR605087,CR622657,CR624949,D14811,CR618196 NP_001003690,NP_055443,CAC19507,EAX04219,BAG59665,AAH02904,CAG33174,BAA03552,Q15013,ADQ31873 Hs.122346,Hs.715485 CMT2|KIAA0110|MGC11282|RP1-261G23.6 MAD2L1-binding protein|caught by MAD2 protein protein-coding 1346709 MAD2L1P MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 326596 NG_002592,AL132777 MAD2L1P pseudo 1316729 MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast) The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq] 1580863 11485998,10366450,17541814,17333263,17296730,17268814,17044027,16618761,15489334,15189446,14702039,14667819,12951035,12529368,12477932,11717438,10660610,10527948,11459826,11277934,16710414,17719540,19443654,19753112,20054135,20164194,15988022,11459825 10459 NM_006341,NM_001127325,AL031731,CH471130,DQ017900,AF072933,AF080398,AF139365,AF157482,AK027327,AK094316,BC015244,BI517654,CR604773,CR612866,CR626073 NP_006332,NP_001120797,CAI20216,CAI20217,CAI20218,CAI20219,CAI20220,CAI20221,EAW71697,EAW71698,EAW71699,AAY26393,AAD41647,AAF20267,AAD30290,AAF34357,BAG51305,BAG52858,AAH15244,Q9UI95,ABM81964,ABM85143 Hs.19400 MAD2B|REV7 MAD2 (mitotic arrest deficient, yeast, homolog)-like 2|MAD2-like protein 2|OTTHUMP00000002273|OTTHUMP00000002278|REV7 homolog|hREV7|mitotic arrest deficient 2-like protein 2|mitotic arrest deficient homolog-like 2|mitotic spindle assembly checkpoint protein MAD2B protein-coding 1344591 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq] 1580863,2311550,2311544,2311545,2311549 8502297,12588680,19286444,19157500,18308860,16750586,16344560,15483224,15057824,15050155,14702039,14669317,12724634,12586641,12477932,12100519,11807247,11705388,10702270,9873398,9655832,9233649,9212736,9162097,8989586,8609404,2474557 2311550,2311544,2311545,2311549 8174 NM_130762,AC005775,CH471242,U80012,U80013,U80014,U80015,U80016,AK092211,AY732484,AY819760,BC136408,BC137506,BC137507,NM_130760,BC142629,BC144065,DB323303,DQ076657,U43628,U82483 NP_570116,NP_570118,AAC62844,EAW61194,EAW61195,AAC51354,AAV33123,AAV68345,AAI36409,AAI37507,AAI37508,AAI42630,AAI44066,AAY82472,AAB02194,AAC13661,Q13477,Q4PKD0,Q5PY60,Q5UGI7 Hs.102598 MACAM1 MAdCAM-1|hMAdCAM-1|mucosal addressin cell adhesion molecule 1|mucosal addressin cell adhesion molecule-1 protein-coding 732838 MADD MAP-kinase activating death domain Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 20081858,20185807,20237496,20419449,9115275,11577081,14735464,8988362,19289468,19060911,18849981,18794122,18223207,17410194,17314102,16682944,16344560,16273344,15489334,15208670,15007167,14716293,14702039,14695193,12477932,10825539,10756096,9796103,9482930,9205841,15103018,20484047,20936779,12421765,12410563,10970871,19913121,20571754,20628086 8567 NM_130470,NM_003682,NM_130473,NM_130471,NM_130472,NM_130474,NM_001135944,NM_130475,NM_130476,NM_001135943,AC018410,AC090582,CH471064,U48254,AB002356,AF440100,AF440101,AF440102,AF440103,AF440434,AK092919,AK093619,AK292442,AK308780,AU077339,BC040484,BE242736,DA187733,DA759613,U44953,U77352 NP_569826,NP_003673,NP_569829,NP_569827,NP_569828,NP_569830,NP_001129416,NP_569831,NP_569832,NP_001129415,EAW67930,EAW67931,EAW67932,EAW67933,EAW67934,EAW67935,EAW67936,EAW67937,EAW67938,EAW67939,EAW67940,AAB05595,BAA20814,AAL40265,AAL40266,AAL40267,AAL40268,AAL35261,BAF85131,AAH40484,AAD12154,AAB57735,Q7KYV8,Q8WXG6 Hs.82548 DENN|FLJ35600|FLJ36300|IG20|KIAA0358|RAB3GEP MAP kinase-activating death domain protein|OTTHUMP00000197132|OTTHUMP00000197133|OTTHUMP00000197138|Rab3 GDP/GTP exchange factor|differentially expressed in normal and neoplastic cells|insulinoma glucagonoma clone 20|insulinoma-glucagonoma protein 20 protein-coding 1320456 MAEA macrophage erythroblast attacher This gene product mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. This protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Two immunologically related isoforms of erythroblast macrophage protein with apparent molecular weights of 33 kD and 36 kD were detected in macrophage membranes; this gene encodes the larger isoform. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. 16510120,9763581,17467196,14702039,12477932,16289162 10296 AK094253,AK125501,AK127875,AK128302,AK308901,AY189687,AY236486,BC001225,BC006470,BT006957,CR601639,CR606463,CR615926,NM_001017405,NM_005882,AC078852,CH471131,AB208907,AF084928,AK001088,AK022515,AK022586,AK091951,AK296174,AK298944,AK300572,AK301155 BAG54590,AAO85220,AAP74806,AAH01225,AAH06470,AAP35603,Q59H52,Q7L5Y9,NP_001017405,NP_005873,EAW82586,EAW82587,EAW82588,EAW82589,EAW82590,EAW82591,EAW82592,EAW82593,EAW82594,EAW82595,EAW82596,BAD92144,AAC67543,BAA91499,BAB14072,BAB14113,BAG52449,BAG58910,BAG61043,BAG62274,BAG62745 Hs.139896 EMLP|EMP|HLC-10|PIG5 OTTHUMP00000217707|OTTHUMP00000217709|OTTHUMP00000217710|OTTHUMP00000217711|OTTHUMP00000217716|OTTHUMP00000217718|cell proliferation-inducing gene 5 protein|erythroblast macrophage protein|human lung cancer oncogene 10 protein|lung cancer-related protein 10|macrophage erythroblast attacher|proliferation-inducing gene 5 protein-coding 1605917 MAEL maelstrom homolog (Drosophila) 19693694,19536175,19064610,16710414,15489334,14702039,12477932,18029348,20379614,17207965 84944 NM_032858,AL158837,CH471067,AK027810,AK131066,AK302253,AL133073,BC028595,BC034310,CR597287,CR614428,CR624981,DQ076156 NP_116247,CAH69955,CAH69956,EAW90780,EAW90781,EAW90782,BAB55385,BAG63605,CAB61396,AAH28595,AAH34310,AAY82463,Q96JY0,ADQ32386 Hs.651245 CT128|FLJ14904|RP11-102C16.1 OTTHUMP00000032344|cancer/testis antigen 128|protein maelstrom homolog protein-coding 731331 MAF v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) 1580863 19336002,17875642,9616139,19215682,19151714,18701893,18616618,18585411,18059226,18058096,17982426,17901057,17897790,8108109,11036080,17823980,17490615,17044113,16498264,16470690,16424013,15749884,14998494,14998484,14692531,14688382,12939343,12835653,12477932,12381733,12193719,12149651,12011435,11943779,11772997,11295643,9566892,9070273,16675956,19687312,19844255,19851340,19883431,20067416,20080955,20127678,17082780,20712903,20571754,20668459 4094 NM_001031804,NM_005360,AC009159,AF055378,AF055376,AF055377,AF447709,AF540388,BC038438,BC081542,BE644986,BF726289,NG_016440 NP_001026974,NP_005351,AAC27039,AAC27037,AAC27038,AAN76723,AAO16209,AAH81542,O75444,Q71A33,Q8IX32 Hs.134859 MGC71685|c-MAF Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene|T lymphocyte c-maf long form|c-maf proto-oncogene|proto-oncogene c-Maf|transcription factor Maf protein-coding 1601952 MAF1 MAF1 homolog (S. cerevisiae) This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. 11256614,17505538,17499043,17081983,16189514,15489334,12504022,12477932,11438659,11230166,10737800,8889548,20817737,20543138,16169070,17205138,20233713,17207965 84232 NM_032272,AC104592,CH471162,AL136937,BC014082,BC018714,BC031273,BE093055,BE515145,BF339064,BF984144,BG179308,BG757465,BM721318,CR533463,CR600048,CR621223,DN997000 NP_115648,EAW82158,EAW82159,CAB66871,AAH14082,AAH18714,AAH31273,CAG38494,Q9H063,ADQ31906 Hs.19673 MGC20332|MGC31779|MGC39758 homolog of yeast MAF1|repressor of RNA polymerase III transcription MAF1 homolog protein-coding 1604438 MAFA v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM] 15993959,15665000,15664997,14973194,12011435,11416124,15664999,19393272,19407223,19573128,20208071,20213756,12368292,17941991,18948074,18753309,18701893,18522939,18508668,18042454,17636040,16847327 389692 NM_201589,AB086960,AC105118,AY083269,XR_108899,XR_113187,XR_114233 NP_963883,BAC20389,AAL89527,Q8NHW3,AAI56444 RIPE3b1|hMafA pancreatic beta-cell-specific transcriptional activator|transcription factor MafA|transcription factor RIPE3b1 protein-coding 732545 MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq] 1580863 10909854,10698492,8620536,8001130,18029348,19060906,19013005,18832725,18830254,18701893,18615156,16473681,16456583,15598817,15489334,15135046,15121870,14702039,12798298,12542796,12542795,12477932,11780052,10444328,8632993,11036080,15107855,12499396,14965474,19332055,19395026,20436469,20581830 9935 NM_005461,AL035665,CH471077,AF086178,AF134157,AK027324,BC028098,BC036689,CR611755,NG_023378 NP_005452,CAB75863,EAW76000,AAD30106,BAG51303,AAH28098,AAH36689,Q9Y5Q3 Hs.169487 KRML|MGC43127 Kreisler maf-related leucine zipper homolog|MAFB/Kreisler basic region/leucine zipper transcription factor|OTTHUMP00000031698|maf-B|transcription factor MafB|v-maf musculoaponeurotic fibrosarcoma oncogene family, protein b (avian) protein-coding 1346502 MAFD1 major affective disorder 1 8533768 4095 1353487 MAFD2 major affective disorder 2 4096 1319919 MAFF v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian) The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 19723544,10527846,16549056,16371591,16344560,15489334,14702039,12490281,12477932,11772409,11036080,10591208,8932385,8107826,16169070,20211142,8816476 23764 DA209378,DA425613,DA654696,DB319587,NM_001161572,NM_001161573,NM_001161574,AL021977,CH471095,AB025247,AI610651,AJ010857,AK002001,AK097953,AK300932,BC015037,BC067751,NM_012323,CR606348,CR611256,CR618179 Q9ULX9,NP_036455,NP_001155044,NP_001155045,NP_001155046,CAB45266,EAW60221,BAA86871,CAB52435,BAA92029,BAG62561,AAH15037,AAH67751 Hs.517617 U-MAF|hMafF OTTHUMP00000199300|transcription factor MafF|v-maf avian musculoaponeurotic fibrosarcoma oncogene family protein F protein-coding 1352039 MAFG v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) 1580863 12477932,19011633,20211142,8816476,9286713,17928287,16716189,16169070,15489334,12496124,12149651,11875518,11154691,11036080,11013233,9763667,9421508,9195958,9166829,9150357,8932385,8889548,20689807 4097 BC103722,NM_002359,NM_032711,AC145207,CH471099,AF059195,AK130699,AL520760,BC006143,BC012327,BE258646,BE264273,BF976800,BI763651,BM721518,BQ212603,BU195720,CR611601,U84249,Y11514 NP_002350,NP_116100,EAW89712,EAW89715,AAC14427,AAH12327,AAC51737,CAA72284,O15525,ABM81635 Hs.252229 MGC13090|MGC20149 basic leucine zipper transcription factor MafG|hMAF|transcription factor MafG protein-coding 2303835 MAFIP MAFF interacting protein 16549056,15881666,15498874,14702039 727764 AC145212,AF289559,AK074146,AK096952,NM_001190825 AAL55743,BAB84972,Q8TEH8,Q8WZ33,NP_001177754 Hs.632605 FLJ00219|FLJ39633|MIP|pp5644 MAFF interacting protein|maFF-interacting protein|tektin-4 like protein PP5644 protein-coding 1350091 MAFK v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM] 1580863 9150357,14702039,12853948,12805554,12690205,12477932,11013233,10747902,10037736,9878398,9763667,8887638,8355703,11036080,17083329,19011633,8816476,17046816 7975 NM_002360,AC093734,CH236953,CH471144,AF059194,AK056767,AK092414,AL831913,BC012777,BC094871,BC143040,BC143041,BC148194,BC148265,BC152387 NP_002351,AAP21866,EAL23943,EAW87207,EAW87208,AAC14426,BAG52549,CAD38575,AAI48266,AAI52388,O60675,Q8NDR0 Hs.520612 FLJ32205|MGC71717|NFE2U|P18 OTTHUMP00000200038|OTTHUMP00000200039|basic-leucine zipper transcription factor MafK|erythroid transcription factor NF-E2 p18 subunit|nuclear factor erythroid-2, ubiquitous (p18)|transcription factor MafK|v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K protein-coding 732303 MAG myelin associated glycoprotein The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 7505568,19725832,19151627,18941509,18816614,18496213,18236455,17974963,17964117,16039057,15820319,15489334,15146195,15057824,14702039,12528815,12477932,12237860,12160746,12089450,12020971,12011108,11733546,11423128,9668345,9373149,8432525,8125298,7525550,6177705,2655996,2479762,2476987,2475262,2447011,2446864,1282933,12426574,12558975,12692556,12951563,17335080,19720975 4099 NM_002361,AC002132,AD000684,AK094545,AK222649,AK222680,AK223562,AK294644,AK308976,BC034042,BC053347,BC093045,BI755065,CR614873,M29273,X98405,NM_080600,DC331168,NM_001199216 Q53HA1,NP_542167,NP_002352,AAB58805,BAD96369,BAD96400,BAD97282,BAH11831,AAH53347,AAH93045,AAA59545,CAA67055,P20916,Q15489,Q53ES7,Q53HD1,Q567S4,Q59GD9,NP_001186145 Hs.643440 GMA|S-MAG|SIGLEC-4A|SIGLEC4A myelin-associated glycoprotein|sialic acid binding Ig-like lectin 4A|sialic acid-binding immunoglobulin-like lectin 4A protein-coding 1348245 MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq] 1580863 1840703,19259094,18820946,18197853,18094622,17704924,17634428,17611652,17208940,17007017,16516880,16497664,16344560,16189514,16114059,15489334,15353125,15342556,15316101,15059299,14672620,12525503,12477932,12443884,11776148,11691819,10854409,10363990,8647853,8575766,8302824,8113684,8050815,8039421,8037761,7927954,7927540,7823968,7627949,20348248,20592351,18505125,19467731,20423514,20420712,20862285 4100 AAB33086 NM_004988,AC152005,CH471172,M77481,AF463515,AK314979,AY148486,BC017555,BP314195,BT009789,CA428506,DB053667,EU161102,FB746165,NG_013243 NP_004979,EAW72885,AAA03229,AAL69948,BAG37478,AAN62752,AAH17555,AAP88791,ABW06861,AAB33086,P43355,Q8WX99,ABM82075,ABM85255,CAT04602 Hs.72879 CT1.1|MAGE1|MGC9326 MAGE-1 antigen|antigen MZ2-E|cancer/testis antigen 1.1|cancer/testis antigen family 1, member 1|melanoma antigen MAGE-1|melanoma antigen family A 1|melanoma-associated antigen 1|melanoma-associated antigen MZ2-E protein-coding 1345818 MAGEA10 melanoma antigen family A, 10 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 15489334,15355897,12477932,10446460,8575766,7927540 4109 NM_021048,NM_001011543,AC116666,AX026469,AX026473,CH471169,U10685,AK314161,BC004105,CB959556,CR622868 NP_066386,NP_001011543,CAC09073,CAC09076,EAW99421,EAW99422,AAA68869,BAG36845,AAH04105,P43363,ABM83957,ABM87274 Hs.18048 CT1.10|MAGE10|MGC10599 MAGE-10 antigen|OTTHUMP00000025895|OTTHUMP00000025896|cancer/testis antigen 1.10|cancer/testis antigen family 1, member 10|melanoma-associated antigen 10 protein-coding 1349031 MAGEA11 melanoma antigen family A, 11 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20448036,16189514,19372581,19147576,18212060,18048459,17081983,15684378,15489334,14702039,12477932,10521804,9495246,8575766,7927540,19828458 4110 NM_001011544,NM_005366,NG_012803,AC016939,AC139014,AC231844,AC232272,CH471169,U10686,AI691089,AK127849,AY747607,BC004479,BQ212898,BX337921 NP_001011544,NP_005357,EAW99364,EAW99365,EAW99366,AAA68870,BAC87161,AAW71787,AAH04479,P43364 Hs.670252 CT1.11|MAGE-11|MAGE11|MAGEA-11|MGC10511 MAGE-11 antigen|OTTHUMP00000082460|cancer/testis antigen 1.11|cancer/testis antigen family 1, member 11|melanoma-associated antigen 11 protein-coding 1352065 MAGEA12 melanoma antigen family A, 12 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq] 12477932,10854409,8575766,8276455,8037761,7927540,16189514,18197853,18057533,17634428,15489334,8889548 4111 AF002997,CH471169,L18877,AK314168,BC003408,BC098146,BT007108,CR541775,CR594285,NM_005367,BQ436888,CF123053,NG_015852,NM_001166386,NM_001166387 EAW99432,AAA19023,BAG36852,AAH03408,AAP35772,CAG46574,P43365,Q6FHH8,ABM81927,ABM85104,NP_005358,NP_001159858,NP_001159859 Hs.169246 CT1.12|MAGE12 MAGE-12 antigen|MAGE12F antigen|cancer/testis antigen 1.12|cancer/testis antigen family 1, member 12|melanoma-associated antigen 12 protein-coding 2925270 MAGEA13P melanoma antigen family A, 13 pseudogene 139363 CH471150,NG_022882,Z81311 A6NCF6,EAW88445 pseudo 1606582 MAGEA2 melanoma antigen family A, 2 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 18197853,17634428,16847267,15489334,12525503,12477932,10854409,8575766,8416750,8276455,8113684,7927540,7591235,1840703,16341674 4101 NM_005361,NM_175743,NM_175742,AF002997,CH471169,L18920,U82671,AK290443,BC013098,BC063681,BC108720,BC109188,BC112158,BC112160,BG575302,BM781931 Q2VPA5,Q6P448,Q96E03,AAI46450,NP_005352,NP_786885,NP_786884,EAW99429,EAW99430,EAW99431,AAA17729,BAF83132,AAH13098,AAH63681,AAI08721,AAI09189,AAI12159,AAI12161,P43356 Hs.713061,Hs.534597 CT1.2|MAGE2|MAGEA2A|MAGEA2B|MGC131923 MAGE-2 antigen|OTTHUMP00000024219|cancer/testis antigen 1.2|cancer/testis antigen family 1, member 2|melanoma antigen 2|melanoma-associated antigen 2 protein-coding 1349621 MAGEA2B melanoma antigen family A, 2B This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. [provided by RefSeq] 15489334,12477932,10854409,8575766,8276455,8113684,7927540,1840703 266740 NM_153488,AF002997,U82671,AK290443,BC013098,BC063681,BC108720,BC109188,BC112158,BC112160 NP_705692,BAF83132,AAH13098,AAH63681,AAI08721,AAI09189,AAI12159,AAI12161,P43356,Q6P448,ABM82609,ABM85794 Hs.534597,Hs.713061 MAGE2|MAGEA2|MGC16973 CT1.2|MAGE-2 antigen|OTTHUMP00000024226|OTTHUMP00000205534|OTTHUMP00000205535|OTTHUMP00000205536|OTTHUMP00000205537|OTTHUMP00000205539|OTTHUMP00000205540|cancer/testis antigen 1.2|melanoma antigen 2|melanoma antigen, family A, 2, copy b|melanoma-associated antigen 2 protein-coding 1353296 MAGEA3 melanoma antigen family A, 3 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq] 19261683,18982744,18829569,18483279,18381936,18316621,18237105,18197853,18181974,17699848,17634428,17495964,17007017,16806467,16516880,16446550,16114059,15885805,15489334,14672620,12710945,12477932,12393675,11691819,10854409,9373149,9044853,8575766,8125298,8113684,8037761,7927540,7757970,7591235,1840703,9700202,20036422,18505125,19326132,19795170,20423514 4102 NM_005362,AF002997,U03735,AK223519,AK292384,BC000340,BC005963,BC011744,BC016803,BC017389,CR541767,CR541768,CR541774,CR542020,NG_013244 NP_005353,AAA17446,BAD97239,BAF85073,AAH00340,AAH05963,AAH11744,AAH16803,AAH17389,CAG46566,CAG46567,CAG46573,CAG46817,P43357,Q53EX0,Q6FGT7,Q6FHI5,ABM82776,ABM85966 Hs.417816 CT1.3|HIP8|HYPD|MAGE3|MAGEA6|MGC14613 MAGE-3 antigen|OTTHUMP00000024221|antigen MZ2-D|cancer/testis antigen 1.3|cancer/testis antigen family 1, member 3|melanoma-associated antigen 3 protein-coding 1353714 MAGEA4 melanoma antigen family A, 4 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. [provided by RefSeq] 19545928,12525503,14739298,19533752,18982744,18197853,17214847,16651421,16596224,16189514,16114059,16061876,15489334,12759544,12477932,12209997,12209610,11985796,11502003,9119398,8575766,8037761,7927540,7642112,7591235,17207965,16712791,20862285 4103 D32077,NM_001011548,NM_002362,NM_001011549,NM_001011550,U10340,NG_013245,AF274855,CH471169,U10687,U10688,AK300179,AK313862,AY954624,BC017723,BC096712,BM548926,BM562570,BX479311,CB120212,CR622709,CR623041,D32075 NP_001011550,NP_001011548,NP_002353,NP_001011549,BAA06843,AAA19007,P43358,Q1RN33,Q4V9T5,ABM82611,ADQ32337,EAW99410,EAW99411,EAW99412,EAW99413,AAA68871,AAA68872,BAG61958,BAG36590,AAY27261,AAH17723,AAH96712,BAA06841 Hs.37107 CT1.4|MAGE-41|MAGE-X2|MAGE4|MAGE4A|MAGE4B|MGC21336 MAGE-4 antigen|MAGE-41 antigen|MAGE-X2 antigen|OTTHUMP00000025881|OTTHUMP00000025882|OTTHUMP00000025883|OTTHUMP00000025884|OTTHUMP00000025885|OTTHUMP00000025886|OTTHUMP00000025887|OTTHUMP00000025889|OTTHUMP00000025890|OTTHUMP00000025891|cancer/testis antigen 1.4|cancer/testis antigen family 1, member 4|melanoma-associated antigen 4 protein-coding 1343521 MAGEA5 melanoma antigen family A, 5 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq] 18197853,15489334,12477932,10521804,8575766,7927540 4104 NM_021049,AF274856,CH471169,U10689,U10690,AY310324,BC109187,NG_016417 NP_066387,EAW99420,AAA68873,AAA68874,AAI09188,P43359 Hs.668021 CT1.5|MAGE5|MAGEA4|MGC129526 MAGE-5 antigen|MAGE-5a antigen|MAGE-5b antigen|OTTHUMP00000217952|cancer/testis antigen 1.5|cancer/testis antigen family 1, member 5|melanoma-associated antigen 5 protein-coding 1603231 MAGEA6 melanoma antigen family A, 6 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 17353931,18197853,15489334,12631591,12477932,12208877,8575766,8037761,7927540,7642112,16341674 4105 NM_175868,NM_005363,AF002997,U10691,AK289437,BC041599,BC067731,BM843807,BX640600,CR595748,CR611124,D32076,EU161101,U10339 NP_787064,NP_005354,AAA68875,BAF82126,AAH41599,AAH67731,CAE45706,BAA06842,ABW06860,AAA19006,P43360 Hs.441113 CT1.6|MAGE-3b|MAGE3B|MAGE6|MGC52297 MAGE-6 antigen|MAGE3B antigen|OTTHUMP00000024224|OTTHUMP00000205538|cancer/testis antigen 1.6|cancer/testis antigen family 1, member 6|melanoma-associated antigen 6 protein-coding 1348686 MAGEA7 melanoma antigen family A, 7, pseudogene 8575766,7927540 4106 AC232272,NG_001156,AC016939,U10692 MAGE7 pseudo 1348802 MAGEA8 melanoma antigen family A, 8 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq] 12477932,10521804,8575766,7927540,8889549 4107 AC016941,NM_005364,CH471169,U10693,AK313943,BC002455,BC012744,BC098120,BT007340,CR619399,AA045817,BI092675,NG_015868,NM_001166400,NM_001166401 NP_005355,EAW99373,AAA68876,BAG36661,AAH02455,AAH12744,AAP36004,P43361,NP_001159872,NP_001159873 Hs.522803 CT1.8|MAGE8|MGC2182 MAGE-8 antigen|cancer/testis antigen 1.8|cancer/testis antigen family 1, member 8|melanoma-associated antigen 8 protein-coding 1344901 MAGEA9 melanoma antigen family A, 9 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq] 10521804,9147653,8575766,7927540,12477932,19533752,15900605,15489334 4108 NM_005365,AC016939,AC232272,CH471169,U10694,U66083,AK292272,AK313321,AY310325,BC002351,BC098100 NP_005356,EAW99372,AAA68877,AAB67888,BAF84961,BAG36126,AAP82171,AAH02351,P43362,AAI56348,AAI57102,ABM82347,ABM85521 Hs.512582 CT1.9|MAGE9|MAGEA9B|MGC8421 MAGE-9 antigen|cancer/testis antigen 1.9|cancer/testis antigen family 1, member 9|melanoma-associated antigen 9 protein-coding 1642211 MAGEA9B melanoma antigen family A, 9B MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM] 16344560,12477932,8575766,7927540,14702039,15489334,9147653 728269 NM_001080790,AC016940,AK292272,AK313321,AY310325,BC002351,BC098100,DB015621,AC233288 NP_001074259,BAF84961,BAG36126,AAP82171,AAH02351,P43362 Hs.460974,Hs.512582 MAGEA9 CT1.9|MAGE-9 antigen|OTTHUMP00000216441|cancer/testis antigen 1.9|melanoma antigen family A, 9 -like|melanoma-associated antigen 9 protein-coding 1351406 MAGEB1 melanoma antigen family B, 1 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq] 16344560,18029348,15772651,15489334,12477932,12018852,9441743,8535061,7761436 4112 DB022312,NG_016336,NM_002363,NM_177415,NM_177404,AC005185,CH471074,S80936,U93163,AK314977,BC013772,BU166425,CR541762,X82539 NP_002354,NP_803134,NP_796379,AAD10634,EAW99049,AAC97145,AAC23616,BAG37476,AAH13772,CAG46562,CAA57889,P43366,Q96TG1,ABM81611,ABM84793 Hs.73021 CT3.1|DAM10|MAGE-Xp|MAGEL1|MGC9322 DSS-AHC critical interval MAGE superfamily 10|DSS/AHC critical interval MAGE superfamily 10|MAGE-B1 antigen|MAGE-XP antigen|cancer/testis antigen 3.1|cancer/testis antigen family 3, member 1|melanoma-associated antigen B1 protein-coding 1606155 MAGEB10 melanoma antigen family B, 10 15489334,14702039,12477932,11454705 139422 NM_182506,AC107613,AC112492,AF333708,CH471074,AK057527,BC101307,BC101308,BC101309,BC101310,NG_017094,HC044787 NP_872312,AAK00360,EAW99040,BAB71522,AAI01308,AAI01309,AAI01310,AAI01311,Q96LZ2,CBH30723 Hs.447363 FLJ32965|MGC120394 MAGE family testis and tumor-specific protein|MAGE-B10 antigen|melanoma-associated antigen B10 protein-coding 1353190 MAGEB16 melanoma antigen family B, 16 15772651,11454705 139604 NM_001099921,AL161722 NP_001093391,CAI95297,CAM20853,A2A368 Hs.700562 MAGE-B16 antigen|OTTHUMP00000159283|melanoma antigen family B, 16 (pseudogene)|melanoma-associated antigen B16 protein-coding 2301779 MAGEB17 melanoma antigen family B, 17 15772651,11454705 645864 XM_001130425,XM_001719394,XM_942566,AC078993,CH471074,XM_003119193,XM_003121027 XP_001130425,XP_001719446,XP_947659,EAW98911,A8MXT2,XP_003119241,XP_003121075 melanoma antigen family B, 17|melanoma antigen family B, 17 (pseudogene) protein-coding 1605545 MAGEB18 melanoma antigen family B, 18 16189514,19060904,16713569,15489334,14702039,12477932,20932654 286514 NM_173699,AC129850,CH471074,AK057361,BC029525,HC044853,NG_016370 NP_775970,EAW99033,BAB71450,AAH29525,Q96M61,CBH30756 Hs.350683 MGC33889 MAGE-B18 antigen|melanoma-associated antigen B18 protein-coding 1350701 MAGEB2 melanoma antigen family B, 2 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq] 9373149,17207965,17353931,17012225,15772651,15489334,12477932,12018852,9538511,9441743,8535061,8125298 4113 AAB50665 NM_002364,AC005185,CH471074,U93163,AF015766,AK223081,AK313347,BC026071,CR590008,CR593708,CR611588,CR618278,CR618499,CR621494,NG_013246 ADQ31880,NP_002355,AAD10635,EAW99047,AAC23617,AAD01565,BAD96801,BAG36150,AAH26071,AAB50665,O15479,Q53G50,ABW03680 Hs.113824 CT3.2|DAM6|MAGE-XP-2|MGC26438 DSS-AHC critical interval MAGE superfamily 6|DSS/AHC critical interval MAGE superfamily 6|MAGE XP-2 antigen|MAGE-B2 antigen|cancer/testis antigen 3.2|cancer/testis antigen family 3, member 2|melanoma-associated antigen B2 protein-coding 1353042 MAGEB3 melanoma antigen family B, 3 This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq] 15772651,15489334,14702039,12477932,10861452,9441743,17207965 4114 NM_002365,AC005185,U93163,AK057441,BC069784,BC074756,BC126320,BC126322,HC044729,AA934059,NG_015869 NP_002356,AAD10636,AAC23618,BAG51914,AAH69784,AAH74756,AAI26321,AAI26323,O15480,CBH30694,ADR82935,ADQ31977 Hs.113290 CT3.5 MAGE-B3 antigen|OTTHUMP00000023099|cancer/testis antigen family 3, member 5|melanoma-associated antigen B3 protein-coding 1346783 MAGEB4 melanoma antigen family B, 4 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq] 16344560,16189514,15772651,15489334,12477932,9441743 4115 DB056993,NG_015870,NM_002367,AC005185,CH471074,U93163,AK313769,BC032852,CR541779 NP_002358,AAD10637,EAW99050,AAC23619,BAG36507,AAH32852,CAG46578,O15481,ABM82162,ABM85347 Hs.113291 CT3.6|MGC33144 MAGE-B4 antigen|cancer/testis antigen family 3, member 6|melanoma-associated antigen B4 protein-coding 1349538 MAGEB5 melanoma antigen family B, 5 10861452 347541 XM_293407,XM_001715155,XM_942614,AC005297,AF333705,CR747535 XP_293407,XP_001715207,XP_947707,AAK00357,Q9BZ81 Hs.224079 CT3.3|MAGE-B5 MAGE family testis and tumor-specific protein|MAGE-B5 antigen|cancer/testis antigen 3.3|cancer/testis antigen family 3, member 3|melanoma-associated antigen B5 protein-coding 1348631 MAGEB6 melanoma antigen family B, 6 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq] 12477932,10861452,15489334,14702039,17207965 158809 NM_173523,AC005297,AF320514,CH471074,AK097561,BC067286,BC074920,CR604094,HC044777,NG_013247 NP_775794,AAG48624,EAW99034,BAC05102,AAH67286,AAH74920,Q8N7X4,CBH30718,ADQ31954 Hs.376011 CT3.4|FLJ40242|MAGE-B6|MAGEB6A MAGE-B6 antigen|cancer/testis antigen 3.4|cancer/testis antigen family 3, member 4|melanoma-associated antigen B6 protein-coding 1351509 MAGEB6B melanoma antigen family B, 6B pseudogene 392433 NG_008389,AC129850 pseudo 1347095 MAGEC1 melanoma antigen family C, 1 This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [provided by RefSeq] 20621094,18029348,17137291,18237105,17607369,15772651,12477932,12115486,11872084,9618514,9485030,20696919,20862285,16344560,20108890 9947 NM_005462,AF064589,AL022152,AL023279,CH471170,AF056334,BC025969,BC127771,BC153867,BQ772869,DB065460,NG_015871 NP_005453,AAC18837,CAD27434,CAI42087,EAW78010,AAC24227,AAI27772,O60732,Q5JZC0 Hs.132194 CT7|CT7.1|MAGE-C1|MGC39366 MAGE-C1 antigen|cancer/testis antigen 7.1|cancer/testis antigen family 7, member 1|melanoma-associated antigen C1 protein-coding 1351080 MAGEC2 melanoma antigen family C, 2 This gene is related to members of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq] 1580863 15342556,12920247,18942708,17495964,17096150,15772651,15489334,15061963,14999777,12477932,12097419,11602350,11406556,10861452,10699956,20621094,20862285 51438 BM548987,BP370466,NG_015872,AF116195,AF196483,AF239802,AL031073,CH471170,AF116194,AF151378,AF196482,AK313591,BC005891,BC013318,CR457168,NM_016249 NP_057333,AAF34817,AAF07211,AAK15073,CAI42324,EAW78014,EAW78015,EAW78016,AAF34816,AAF36533,AAF07210,BAG36358,AAH05891,AAH13318,CAG33449,Q6IAI7,Q9UBF1,ABM83868,ABM87190 Hs.123536 CT10|HCA587|MAGEE1|MGC13377 MAGE-C2 antigen|MAGE-E1 antigen|cancer/testis antigen 10|hepatocellular cancer antigen 587|hepatocellular carcinoma-associated antigen 587|melanoma antigen, family E, 1, cancer/testis specific|melanoma-associated antigen C2 protein-coding 1603580 MAGEC3 melanoma antigen family C, 3 This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 15772651,12477932,10861452 139081 NG_013272,NM_177456,AF333706,AF333707,AL022152,AL023279,AL049177,CH471170,AF490508,BC103893,BC103894,NM_138702 CAX15113,NP_803251,AAK00358,AAK00359,CAI42088,CAI42601,CAI42947,EAW78008,EAW78009,AAM08355,AAI03894,AAI03895,Q3SYA6,Q3SYA7,Q8TD91,Q9BZ79,NP_619647 Hs.356870 CT7.2|HCA2|MAGE-C3|MAGEC4|MGC119270|MGC119271 MAGE family testis and tumor-specific protein|MAGE-C3 antigen|OTTHUMP00000204090|cancer/testis antigen 7.2|cancer/testis antigen family 7, member 2|hepatocellular carcinoma-associated antigen 2|hepatocellular carcinoma-associated protein HCA2|melanoma-associated antigen C3 protein-coding 736331 MAGED1 melanoma antigen family D, 1 This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 12376548,12787561,19639218,20100315,20237496,15930293,18264098,17488777,17453828,17353931,17149546,17140727,16713569,16388736,16125672,15772651,15489334,15162511,15094062,12754255,12598531,12477932,12204258,12023963,11959851,11546791,11313144,11280991,11087672,11084035,10985348,10409427,12716928,16169070 9500 NM_001005332,NM_001005333,NM_006986,NG_012559,AL929101,AL929410,CH471230,AF124440,AF132205,AF217963,AF258554,AF300328,AK074092,AK298574,AK308706,AK314053,AL133628,BC014070,BC032473,BF529661,BG819042,BX422007,CD387872 NP_001005332,NP_001005333,NP_008917,CAH71560,CAH71561,EAW62896,EAW62897,AAD31421,AAG35551,AAG09704,AAG23757,AAQ14483,BAB84918,BAG60766,CAB63752,AAH14070,AAH32473,Q8TEN0,Q9Y5V3 Hs.5258 DLXIN-1|NRAGE MAGE tumor antigen CCF|MAGE-D1 antigen|melanoma antigen, family d, 1|melanoma-associated antigen D1|neurotrophin receptor-interacting MAGE homolog protein-coding 734427 MAGED2 melanoma antigen family D, 2 This gene is a member of the MAGED gene family. While the MAGEA and MAGEB genes are silent in normal tissues with the exception of testis and placenta, the MAGED genes are expressed ubiquitously. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). Multiple alternatively spliced transcript variants have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq] 16169070,17643375,20237496,12477932,11856887,10752678,10463614,20562859,18095154,17912449,17081983,15772651,15489334,15465002,15302935,15162511,14702039 10916 NG_012844,NM_177433,NM_014599,NM_201222,CH471154,Z98046,AF126181,AF128527,AF128528,AF148815,AF320907,AJ293618,AK091003,AK092463,AK098645,AK297910,AK301599,AK301821,BC000304,BC091503,BM043994,BM803170,BQ423605,BX647995,CR595215,CR597524,CR605686,CR606543,CR624805,U92544 NP_803182,NP_055414,NP_957516,EAW93189,EAW93190,EAW93191,EAW93192,EAW93193,EAW93194,EAW93195,EAW93196,EAW93197,EAW93198,CAB10841,CAI42345,CAI42346,AAD28598,AAD33392,AAD33393,AAF73137,AAG38603,CAC19410,BAG60229,BAG63087,BAG63267,AAH00304,AAH91503,AAD00728,Q5H909,Q9UNF1,ABM82338,ABM85513,ABM87819,BAC03896 Hs.522665 11B6|BCG1|HCA10|JCL-1|MAGE-D2|MAGED|MGC8386 BCG-1|MAGE-D2 antigen|OTTHUMP00000023381|OTTHUMP00000023382|OTTHUMP00000023383|OTTHUMP00000023384|breast cancer associated gene 1|breast cancer-associated gene 1 protein|hepatocellular carcinoma associated protein|hepatocellular carcinoma-associated protein HCA10|hepatocellular carcinoma-associated protein JCL-1|melanoma antigen, family d, 2|melanoma-associated antigen D2 protein-coding 1604588 MAGED4 melanoma antigen family D, 4 11406556,11181995 728239 NM_001098800,AL928717,CH471230,AB040527,AB040528,AB040529,AB058762,AF320908,AF329733,AK094541,AK098830,AK289458,AK308365,AL136582,BC001207,BC063838,BC081566,CR604784,CR615914 NP_001092270,CAI40426,EAW62886,EAW62887,EAW62889,EAW62890,EAW62891,EAW62892,EAW62893,BAB33378,BAB33379,BAB33380,BAB47488,AAG38604,AAL50032,BAF82147,CAB66517,AAH01207,AAH63838,AAH81566 Hs.522650,Hs.571729 FLJ39060|KIAA1859|MAGE-E1|MAGE1|MAGEE1|MGC3210 melanoma antigen family D, 4 protein-coding 1626386 MAGED4B melanoma antigen family D, 4B This gene is a member of the MAGED gene family. It is expressed only in brain and ovary among normal tissues, and two transcript variants of this gene are specifically expressed in glioma cells among cancer cells. This gene and the other MAGED genes are clustered on chromosome Xp11. Multiple alternatively spliced transcript variants have been found for this gene, however, the full-length nature of some variants has not been defined. [provided by RefSeq] 16225959,15489334,14702039,12477932,12168954,11602350,11406556,11347906,11230166,16169070,19615732 81557 NM_030801,NM_177537,NM_177535,AB056059,BX537154,CH471230,AB040527,AB040528,AB040529,AB058762,AF320908,AF329733,AK094541,AK098830,AK289458,AK308365,AL136582,BC001207,BC063838,BC081566,CR604784,CR615914 NP_110428,NP_803881,NP_803879,BAB61778,BAB61779,BAB61780,CAI41307,EAW62885,EAW62888,EAW62894,BAB33378,BAB33379,BAB33380,BAB47488,AAG38604,AAL50032,BAF82147,CAB66517,AAH01207,AAH63838,AAH81566,Q96JG8 Hs.522650,Hs.571729 KIAA1859|MGC3210|MGC88639 MAGE-D4 antigen|MAGE-E1 antigen|OTTHUMP00000217090|OTTHUMP00000217094|melanoma-associated antigen D4 protein-coding 1349261 MAGEE1 melanoma antigen family E, 1 1580863 14623885,18029348,16713569,15489334,12477932,10997877,20862285,16344560 57692 NM_020932,AL096827,CH471104,AB046807,AF320909,AF490507,AK291270,BC050588,DA411859,NG_016774 NP_065983,CAI42970,EAW98620,BAB13413,AAG38605,AAM08354,BAF83959,AAH50588,Q5JXC7,Q9HCI5 Hs.8453 DAMAGE|HCA1|KIAA1587 MAGE-E1 antigen|dystrobrevin-associated MAGE protein|hepatocellular carcinoma-associated HCA1|hepatocellular carcinoma-associated protein 1|melanoma-associated antigen E1 protein-coding 1346034 MAGEE2 melanoma antigen family E, 2 15772651,15489334,14702039,12477932,11454705,16344560 139599 NM_138703,AL391495,CH471104,AF490509,AK094624,BC093964,BC111949,CR624393,DA793762,NG_021324 NP_619648,CAI40175,EAW98625,AAM08356,BAC04387,AAH93964,AAI11950,Q8TD90 Hs.356869 HCA3|MGC138154 MAGE-E2 antigen|hepatocellular carcinoma-associated protein 3|hepatocellular carcinoma-associated protein HCA3|melanoma-associated antigen E2 protein-coding 1348798 MAGEF1 melanoma antigen family F, 1 This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq] 15489334,12477932,11454705,11313144,17207965,20800603 64110 NM_022149,AC107294,CH471052,AF295378,AF320910,BC010056,BQ058163,BQ070043,CR590592,CR592482,CR596075,CR597086,CR601957,CR604017,CR605167,CR605442,CR611656,CR621352,CR623566 NP_071432,EAW78235,AAG30208,AAG38606,AAH10056,Q9HAY2,ADQ32642 Hs.306123 MGC19617 MAGE-F1 antigen|melanoma-associated antigen F1 protein-coding 1349577 MAGEH1 melanoma antigen family H, 1 This gene is thought to be involved in apoptosis. Multiple polyadenylation sites have been found for this gene. [provided by RefSeq] 729117,1580863 16574066,10948432,16189514,15772651,15489334,15383276,12477932,12414813,11454705,9485030,16169070,18759029 729117 28986 NM_014061,AL590410,CH471154,CS185548,AF143235,AF320912,AK313527,BC011954,CR603973,CR605136,NG_013248 NP_054780,CAI41100,EAW93221,EAW93222,CAJ42729,AAD31314,AAG38608,BAG36306,AAH11954,Q9H213,ABM85572 Hs.279819 APR-1|APR1|MAGEH MAGE-H1 antigen|apoptosis-related protein 1|melanoma antigen, family H, 1 protein|melanoma-associated antigen H1|restin protein-coding 1320098 MAGEL2 MAGE-like 2 Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq] 12477932,10915770,10556298,20467835 54551 NM_019066,AC124309,AF200625,CH471151,AJ243531,BC035839,BC063834,BC112257,BC112259,CR592043,NG_016776 NP_061939,AAG28577,EAW57609,CAB62393,AAH35839,AAH63834,AAI12258,AAI12260,Q05BN9,Q2M1Q7,Q6P3U4,Q9UJ55,AAI67825 Hs.141496 NDNL1|nM15 MAGE-like protein 2|necdin-like protein 1|protein nM15 protein-coding 1322871 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20936779,9647739,18562638,18519826,17191119,16339077,16043488,16019084,15908431,15317815,14702039,14627983,12477932,12042308,11969287,11274227,9647693,9395497,9225980,9169421,11350080,10772923,17353931,15778465,15509766,21070662,12097473,12773569,16169070,16217014,16316992,20379614,20562105 9223 NM_015520,NM_004742,AC025589,AC099058,AC104438,AC106827,AC112516,AC121493,AC133438,NM_001033057,CH471055,AB010894,AF088016,AF401654,AF401655,AF401656,AK023358,AK124433,AK127518,AK130632,AK289803,AK307794,AK310365,AL050184,BC062367,U80754,U96115,AC145425 NP_001028229,NP_056335,NP_004733,EAW65439,EAW65440,EAW65441,EAW65442,EAW65443,EAW65444,EAW65445,BAA32002,AAK94064,AAK94065,AAK94066,BAF82492,AAC04844,AAC51326,Q96QZ7,AAI67863 Hs.651939 AIP3|BAIAP1|BAP1|MAGI-1|TNRC19|WWP3 AIP-3|BAI1-associated protein 1|BAP-1|OTTHUMP00000212272|OTTHUMP00000212273|OTTHUMP00000212274|OTTHUMP00000212275|OTTHUMP00000222428|WW domain-containing protein 3|atrophin-1 interacting protein 3|atrophin-1-interacting protein 3|bai1-associated protein 1|membrane associated guanylate kinase inverted-1|membrane-associated guanylate kinase inverted 1|membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1|trinucleotide repeat-containing gene 19 protein protein-coding 735850 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq] 19913121,20628086,20668459,20966902,10760291,9647693,19240061,19086053,18720471,17989107,17880912,15652357,15122254,12853948,12690205,12589829,12477932,12421765,11826105,11707428,11526121,10681527,10080919,9847074,9734811,15451561,10548487,14529612,16316992,17353931,19668339,19948740,20096742,20101691,20379614 9863 NG_011487,AC004547,AC004808,AC004945,AC004990,AC005246,AC006043,AC006324,AC006355,AC007237,AC007361,AC008071,AC073092,AC073200,AC074024,CH236949,CH471091,AA448362,AB014605,AF038563,AK297353,NM_012301,AK297580,AK298988,AK308685,AK309012,BC150277 NP_036433,AAC23438,AAC61488,AAC79151,AAC25530,AAD15413,AAF66080,AAP21886,AAP22360,EAL24194,EAW77021,EAW77022,EAW77023,EAW77024,EAW77025,BAA31680,AAC05370,BAH12560,BAH12619,BAH12916,AAI50278,Q86UL8 Hs.603842 ACVRIP1|AIP1|ARIP1|MAGI-2|SSCAM AIP-1|activin receptor interacting protein 1|atrophin 1 interacting protein 1|atrophin-1 interacting protein A|atrophin-1-interacting protein 1|atrophin-1-interacting protein A|membrane-associated guanylate kinase inverted 2|membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 protein-coding 1605836 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 11969287,10997877,10748157,18518978,16904289,16316992,15652357,15195140,14702039,12615970,12477932,12421765,12140759,19615732,20379614 260425 NM_152900,NM_001142782,AL133517,AL365225,AL389921,AL390759,AL391058,CH471122,AB046854,AF213259,AK026417,AK311589,BC130409,BC144144 NP_690864,NP_001136254,CAI22553,CAI22554,CAI22555,CAH70944,CAH70945,CAH70946,CAH71507,CAH71508,CAH71509,CAH74141,CAH74142,CAH74143,EAW56559,EAW56560,EAW56561,EAW56562,EAW56563,BAB13460,AAG43837,BAB15479,AAI30410,Q5TCQ9,Q9H8K0 Hs.486189 MAGI-3|MGC163281|RP4-730K3.1|dJ730K3.2 OTTHUMP00000013456|membrane-associated guanylate kinase inverted 3|membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3|membrane-associated guanylate kinase-related 3 protein-coding 1605344 MAGIX MAGI family member, X-linked 16344560,14702039,12477932 79917 NM_001099681,NM_001099682,NM_001099680,AF196779,CH471224,AI369342,AK025340,AK094251,AK096058,BC027995,BC067800,BC114943,DA072017,NM_024859,DQ884401 NP_079135,NP_001093151,NP_001093152,NP_001093150,EAW50691,EAW50692,EAW50693,BAB15115,ABI63368,Q9H6Y5 Hs.193170 FLJ21687|JM10|MGC138889|PDZX OTTHUMP00000032420|OTTHUMP00000032421|OTTHUMP00000032422|OTTHUMP00000032423|OTTHUMP00000032424|OTTHUMP00000032425|PDZ domain containing protein|PDZ domain containing, X chromosome|PDZ domain-containing protein MAGIX protein-coding 1313047 MAGOH mago-nashi homolog, proliferation-associated (Drosophila) Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq] 18026120,19410547,12226669,19254694,17353931,16931718,16710414,16209946,16170325,15489334,15324660,14973490,14730019,12781131,12730685,12477932,11991638,11707413,11696323,11447110,11042152,10662555,9479507,16014633,9272960 4116 NM_002370,AL606760,CH471059,AF035940,AF067173,AF086246,AK297895,AK312113,BC018211,BX283982 NP_002361,CAI18913,CAI18914,EAX06747,EAX06748,AAC39606,AAD32457,BAG60216,BAG35049,AAH18211,P61326,ABM82215,ABM85399 Hs.421576 MAGOH1|MAGOHA protein mago nashi homolog protein-coding 2292057 MAGOH2 mago-nashi homolog 2, proliferation-associated (Drosophila) 548332 AW371909,AY672100 Hs.674373 mago-nashi homolog 2, proliferation-associated (Drosophila) protein-coding 1602707 MAGOHB mago-nashi homolog B (Drosophila) 16501559,16189514,15489334,15324660,14702039,12477932,20379614 55110 AF165518,AK001154,AK022720,AK096106,BC010905,CR604359,NM_018048,AC021049,CH471094,BG533740,CD357202 EAW96197,EAW96198,EAW96199,AAF86648,BAA91522,BAB14202,AAH10905,Q96A72,NP_060518,EAW96196 Hs.104650 FLJ10292|MGN2|mago|magoh mago-nashi homolog 2|protein mago nashi homolog 2 protein-coding 1346623 MAGOHP mago-nashi homolog, proliferation-associated (Drosophila) pseudogene 12508121 90352 NG_002581,AL132986 MAGOHP|MAGOHP1 pseudo 731507 MAGT1 magnesium transporter 1 12887896,15835887,18455129,16303743,15804357,15489334,15164054,14702039,12975309,12477932,11483580,11230166,9373149,8125298,19717468,17207965 84061 NM_032121,AL138743,AL356235,CH471104,AF130104,AK027632,AK075394,AK223131,AK294943,AK296743,AK314309,AL136636,AY358691,BC018447,BC041014,BC050657,BC060842,BC063037,CR599925,DC329979,DQ000004,AK172735,NG_016390 NP_115497,CAI39753,CAI39754,CAI39755,CAH70524,CAI39526,CAI39527,EAW98608,EAW98609,EAW98610,AAG35529,BAB55249,BAC11592,BAD96851,BAG58019,BAG59327,BAG36961,CAB66571,AAQ89054,AAH41014,AAH60842,AAH63037,AAY18811,Q5JTA8,Q6P577,Q96SP2,Q9H0U3,ACE87242,ACE86560,ADQ33025 Hs.323562 DKFZp564K142|FLJ14726|IAP|MGC64926|MRX95|OST3B|PRO0756|RP11-217H1.1|bA217H1.1 implantation-associated protein|magnesium transporter protein 1|oligosaccharyltransferase 3 homolog B protein-coding 733464 MAK male germ cell-associated kinase The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. It is expressed almost exclusively in the testis, primarily in germ cells. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. There is, however, a study of the mouse homolog that has identified high levels of expression in developing sensory epithelia so its function may be more generalized. [provided by RefSeq] 1580863 2183027,16954377,16951154,14702039,14574404,12477932,12084720,8359591,8321219,8188277,1473268 4117 NM_005906,AL024498,CH471087,M35863,AF505623,AK097831,AK310329,AK314408,BC033002,BC039825 NP_005897,CAB75823,EAW55282,EAW55283,EAW55284,EAW55285,AAA36195,AAN16405,BAG53538,AAH39825,P20794,Q547D0,Q8IXN4 Hs.446125 dJ417M14.2 OTTHUMP00000016025|serine/threonine protein kinase MAK|serine/threonine-protein kinase MAK protein-coding 1347911 MAK10 MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae) 18029348,16344560,14702039,12477932,10855038,9373149,8889548,8125298,19660095 60560 AL161447,AL161453,AL353743,CH471089,AK025266,AK026296,AK056059,NM_024635,AK225237,AK292239,BC117427,BC117429,CA945233,DB023442 NP_078911,CAH73154,CAH73155,CAI16311,CAI16313,CAI12657,CAI12658,CAI12659,EAW62702,EAW62703,EAW62704,BAB15097,BAB15435,BAG51612,BAF84928,AAI17428,AAI17430,Q5VZE5,Q5VZE6 Hs.436098 FLJ21613|FLJ22643|MAK10|RP11-379P1.1|bA379P1.1 MAK10 homolog, amino-acid N-acetyltransferase subunit|N-alpha-acetyltransferase 35, NatC auxiliary subunit|corneal wound healing-related protein|embryonic growth-associated protein homolog|protein MAK10 homolog protein-coding 1350635 MAK16 MAK16 homolog (S. cerevisiae) 17081983,15635413,15489334,15342556,14702039,12477932,12429849,11790298,9373149,8125298,17207965 84549 NM_032509,AC091144,CH471080,CS300754,AF251062,AK027469,AK225476,AK314491,AL049422,BC015965,BC028230,BC039740,BC050528,BP281245 NP_115898,EAW63400,CAK32418,AAK34952,BAB55134,BAG37091,AAH15965,AAH28230,AAH39740,AAH50528,Q9BXY0,ADQ33073 Hs.583805 MAK16L|RBM13 NNP78|RNA binding motif protein 13|RNA binding protein|protein MAK16 homolog protein-coding 735676 MAL mal, T-cell differentiation protein The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq] 1358761,1580863 10366425,3494249,10739088,12153479,10428054,8132541,9003426,19445022,19208741,19064572,19002170,18346269,17408629,17151798,16785208,15489334,15466889,15188492,12477932,12429796,10512878,12776198,19423540,19642140,20048342,20406964,20438785,20448286,20400509,9528996,9168919,8088843,3257199 1358761 4118 NM_002371,NM_022438,NM_022439,NM_022440,AC103563,CH471219,X76220,X76221,X76222,X76223,AK311844,BC000458,BC003006,CR541879,M15800,X76678,X76679,X76680,X76681,HI178996,HI178998,HI179000,HI179002 NP_002362,NP_071883,NP_071884,NP_071885,AAY24121,EAX10705,EAX10706,EAX10707,EAX10708,EAX10709,EAX10710,CAA53809,BAG34786,AAH00458,AAH03006,CAG46677,AAA36196,CAA54100,CAA54101,CAA54102,CAA54103,P21145,Q6FH77,CBX53807,CBX53808,CBX53809,CBX53810 Hs.80395 T-cell differentiation protein MAL|T-lymphocyte maturation-associated protein|myelin and lymphocyte protein protein-coding 1348409 MAL2 mal, T-cell differentiation protein 2 This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq] 1580863 19668339,19683524,12963375,19175940,17145811,16620967,16445687,15489334,15466889,15168355,14729876,14702039,14576188,12477932,12370246,11549320 114569 NM_052886,AC087856,CH471060,AK172820,AK312030,AL117612,AY007723,BC012367,CV574204,GN341820 NP_443118,EAW91981,EAW91982,BAD18789,BAG34967,AAG15576,AAH12367,Q969L2,ABM92201,ABM84669,CAY39329 Hs.201083 MAL proteolipid protein 2|MAL2 proteolipid protein|protein MAL2 protein-coding 1346754 MALAT1 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) 20797886,19041754,17270048,16441420,12970751,12837690,12477932,10843802,9253601,19690017,20149803,20213048 378938 NR_002819,AF203815,AP000769,BX640764,AF001542,AJ535465,AK130345,AL050210,BC018448,BC025986,BC063689,BX538238,CR606626,EF177381,BK001411,BK001418 Hs.621695 HCN|MALAT-1|NCRNA00047|NEAT2|PRO2853 miscrna 1342796 MALL mal, T-cell differentiation protein-like This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq] 11294831,18305945,16189514,15489334,14702039,12477932,9361039,9326933,9168137,7622049,1294831 7851 NM_005434,AC013268,CH878608,CS300695,AI911238,AK056616,AK125647,AK311353,BC003179,BM743962,U17077 NP_005425,EAW50639,CAK32359,BAG51765,BAG54228,AAH03179,AAA76738,Q13021,ABM83796,ABM87117 Hs.185055 BENE|MGC4419 MAL-like protein protein-coding 1319401 MALT1 mucosa associated lymphoid tissue lymphoma translocation gene 1 This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863,1599913,1599912 20695076,11090634,15125833,12761501,14695475,11096264,10523859,16123224,12819136,19394813,19279678,19234489,19112107,19060847,18806265,18691973,18625728,18367485,18231929,17948050,17894851,17199743,17145608,17101977,16891304,16804917,16630178,16395405,16395399,16341151,15982633,15696476,15598810,15489334,15363040,15191563,14760068,14702039,14562112,12931213,12651604,12477932,12406890,11960389,11707622,11262391,11162514,10702396,10626814,10610122,10406266,10339464,9110174,8619474,17353931,20804738,16874300,17047224,17135271,19444310,19494296,19841089,19897720,18029348,19965626 1599913,1599912 10892 NM_006785,NM_173844,AC104365,AC104971,CH471096,AB026118,AF070528,AF130356,AF316597,AK024859,AK092004,AK291386,AL137399,BC030143 NP_006776,NP_776216,EAW63078,EAW63079,BAA83099,AAD38507,AAG38589,BAF84075,CAB70725,AAH30143,Q9UDY8,ABM83245,ABM86447 Hs.601217 DKFZp434L132|MLT|MLT1 MALT associated translocation|MALT lymphoma-associated translocation|MALT-lymphoma associated translocation|caspase-like protein|mucosa-associated lymphoid tissue lymphoma translocation protein 1|paracaspase protein-coding 1312980 MAMDC2 MAM domain containing 2 737633 20379614,11256614,16381901,15489336,15489334,15164053,12477932,11076863 737633 256691 CS083249,AK304040,AK304531,BC015417,BC016383,BC040299,BC045569,BC063634,BX538309,NM_153267,AL158153,AL392044,CH471089,AC212493 CAI96011,BAG64951,BAG65332,AAH15417,AAH16383,AAH63634,CAD98089,Q7Z304,CAL37645,NP_694999,CAH73080,CAH71143,EAW62493,EAW62494,EAW62495,EAW62496,EAW62497 Hs.547172 MGC21981 MAM domain containing 1|MAM domain-containing protein 2|MAM domain-containing proteoglycan|mamcan protein-coding 1604980 MAMDC4 MAM domain containing 4 12975309,7829488,12477932 158056 AL137659,NM_206920,AL355987,CH471090,AL834531,AY358419,BC144258,BC144259,BF339007,BQ270782 AAI56097,AAI72486,Q6UXC1,NP_996803,CAQ09956,CAQ09957,EAW88293,EAW88294,EAW88295,CAD39187,AAQ88785 Hs.376780 AEGP|DKFZp434M1411 MAM domain-containing protein 4|OTTHUMP00000022621|apical early endosomal glycoprotein|apical endosomal glycoprotein protein-coding 1318517 MAML1 mastermind-like 1 (Drosophila) This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq] 2302204,1580863 12370315,19751190,19838210,9874765,20203086,11101851,18155729,17875709,17317671,16530044,15546612,12644465,12477932,12391150,12386158,12050117,11585921,11390662,8724849,19913121,20628086 2302204 9794 AK295139,NM_014757,AC113426,CH471165,AA975821,AB209135,AF221759,BC047937,D83785 BAH11986,NP_055572,EAW53801,BAD92372,AAF34658,BAA12114,Q59GH4,Q92585 Hs.631951 FLJ53540|KIAA0200|Mam-1|Mam1 mastermind homolog|mastermind-like protein 1 protein-coding 1313593 MAML2 mastermind-like 2 (Drosophila) 2302204 19176441,19521953,19749740,20379614,12386158,11347906,20588178,12370315,19531414,19269006,19240061,18206539,18050304,17551948,17437281,17334997,16818685,15961999,15729701,14720503,12539049,12477932 2302204 84441 NM_032427,AP000779,AP000848,AP000870,CH471065,AB058722,AK308157,AY040322,AY186997,BC143529,BC152449,CR627398 NP_115803,EAW66975,BAB47448,AAK93831,AAP12462,AAI43530,AAI52450,CAH10491,Q108H6,Q1HA41,Q8IZL2 Hs.428214 DKFZp686N0150|KIAA1819|MAM-3|MAM2|MAM3|MGC176701|MLL-MAML2 mam-2|mastermind-like protein 2 protein-coding 1317803 MAML3 mastermind-like 3 (Drosophila) 2302204,1580863 12370315,9225980,16344560,14702039,12539049,12386158,11347906,12477932,20379614 2302204 55534 NM_018717,AC097464,AC104798,AC108053,AC131182,CH471056,AA236382,AK123604,AK296891,AL359614,AW136739,BC137130,BC137131,BX506733,DA408716,DN999776,R15711 NP_061187,EAX05107,BAG53919,BAG59450,CAB94884,AAI37131,AAI37132,O15415,Q96JK9 Hs.586165 CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3 CAG repeat containing (glia-derived nexin I alpha)|CAG repeat domain|OTTHUMP00000220228|OTTHUMP00000220229|expanded repeat domain, CAG/CTG 3|mam-3|mastermind-like protein 3|polyglutamine rich|trinucleotide repeat containing 3 protein-coding 1344424 MAMLD1 mastermind-like domain containing 1 19339788,18635673,18162467,17086185,16344560,14702039,12477932,9169146,8889548,8640223,17848411,8789451,20347055 10046 AL034384,AW594465,NG_017093,NM_001177465,NM_001177466,NM_005491,AC109994,CH471169,AK094563,AK125184,AK294478,AK297504,AK302612,AK315217,BC136324,BU687638,BX537560,DA106253,DA527328,DR001800,U46023 NP_001170936,NP_001170937,NP_005482,EAW99376,BAC86075,BAG57704,BAG59917,BAG63859,BAG37651,AAI36325,AAC50551,Q13495,Q6ZUZ1 Hs.20136 CG1|CXorf6|F18|HYSP2 OTTHUMP00000025851|mastermind-like domain-containing protein 1 protein-coding 1604486 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator 16818234,14702039,12477932,21060863 284358 NM_182574,NM_001130915,AC008888,CH471177,AK093389,AK131427,BC105056,BC105058,BC106047,BC143443,BX280379 NP_872380,NP_001124387,EAW52390,EAW52391,EAW52392,BAC04152,BAD18574,AAI05057,AAI05059,AAI06048,AAI43444,Q6ZN01 Hs.191815 FLJ36070|MASTR|MGC117259 MEF2-activating SAP transcriptional regulator|MEF2-activating SAP transcriptional regulatory protein|MEF2-activating motif and SAP domain-containing transcriptional regulator|likely ortholog of MEF2-activating SAP transcriptional regulator protein-coding 1322054 MAN1A1 mannosidase, alpha, class 1A, member 1 This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the removal of 3 distinct mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq] 1580863 8223597,15308636,19258393,18217416,17727818,14574404,12477932,10521544,10409699,9592125,9219526,7588811,12560567,11530211,9109416,8673525,2829950,2649653,2542563,2541446,2187500,8093218,3264072,3099781,1736542,8892864,8218172,2406237,2355006,2283726,10915796,20379614 4121 NM_005907,AL022722,AL078600,AL138886,CH471051,AK025599,AK307383,BC065827 NP_005898,CAI20315,CAB75695,EAW48185,EAW48186,EAW48187,AAH65827,P33908,Q6P052 Hs.102788 HUMM3|HUMM9|MAN9 Man9-mannosidase|alpha-1,2-mannosidase IA|man(9)-alpha-mannosidase|mannosyl-oligosaccharide 1,2-alpha-mannosidase IA|processing alpha-1,2-mannosidase IA protein-coding 1320278 MAN1A2 mannosidase, alpha, class 1A, member 2 Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM] 1580863 20379614,9592125,18987618,16710414,16344560,15489334,15231748,14702039,12477932,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726,10915796 10905 AL358072,CH471122,AF027156,AK001970,AK090840,AK307842,AU133800,BC015874,BC052954,BC063300,NM_006699,AF053621,AF053626,AL157902 CAI22317,CAI22318,CAH71079,CAH71080,EAW56675,EAW56676,AAC26169,BAG50997,AAH63300,O60476,Q5T9E4,NP_006690,AAC26200,AAC26201,CAI22315,CAI22316 Hs.435938 MAN1B alpha-1,2-mannosidase IB|alpha1,2-mannosidase|mannosyl-oligosaccharide 1,2-alpha-mannosidase IB|processing alpha-1,2-mannosidase IB protein-coding 1347467 MAN1B1 mannosidase, alpha, class 1B, member 1 1580863 9592125,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,12560567,8892864,8218172,2406237,2355006,2283726,10995765,10521544,10409699,18619586,18003979,17727818,16344560,16303743,15785934,15713668,15489334,15164053,14702039,12975309,12815101,12736254,12477932,19444872,19739260,16341674,12829701,16431915,18303019 11253 NM_016219,AL807752,AL929554,CH471090,AB209276,AF145732,AF148509,AI312031,AK074559,AK074699,AK126926,AK127005,AK128033,AK128257,AY358465,AK128341,AK130143,AK298480,AK299043,AK309808,AK315797,BC002953,BC006079,BE731944,BM848429,CR749534,DA763005,AL110221 NP_057303,CAI12781,CAH72871,CAH72887,EAW88345,EAW88346,EAW88347,BAD92513,AAD45504,AAF03215,BAC11060,BAG51987,BAG54653,BAG54664,BAG60691,BAG61117,AAQ88830,AAH02953,AAH06079,CAH18340,Q59G33,Q5VSF2,Q68D80,Q8N2P4,Q9UFZ8,Q9UKM7,CAB53680,ABM82787,ABM85976 Hs.279881 ERMan1|MANA-ER ER alpha 1,2-mannosidase|ER alpha-1,2-mannosidase|ER mannosidase 1|Man9GlcNAc2-specific processing alpha-mannosidase|alpha 1,2-mannosidase|endoplasmic reticulum alpha-mannosidase 1|endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase|endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1|man9GlcNAc2-specific-processing alpha-mannosidase protein-coding 1320140 MAN1C1 mannosidase, alpha, class 1C, member 1 1580863 10915796,17727818,16964243,16710414,16344560,15231748,12477932,8889548,8093218,3264072,3099781,2829950,1736542,12560567,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2406237,2355006,2283726,20379614 57134 NM_020379,AL020996,AL031280,CH471059,AB209275,AF261655,AK128560,BC038959,BC137017,CR624971,DA068812 NP_065112,CAI19713,CAI19714,EAX07870,EAX07871,BAD92512,AAF97058,AAI37018,Q59G34,Q8WYU7,Q9NR34 Hs.197043 HMIC|MAN1A3|MAN1C|pp6318 1,2-alpha-mannosidase IC|OTTHUMP00000004644|OTTHUMP00000004645|mannosyl-oligosaccharide 1,2-alpha-mannosidase IC|processing alpha-1,2-mannosidase IC protein-coding 735705 MAN2A1 mannosidase, alpha, class 2A, member 1 This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq] 1580863 20189245,20379614,20512086,3264072,1736542,8524845,18174230,17466984,16335952,15004235,12477932,11158608,9230311,8314846,3922977,1885615,1757461,12560567,8093218,3099781,2829950,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726 4124 NM_002372,AC008417,AC011366,AC012603,CH471086,AK314090,AL833486,BC031659,BC043416,BC142656,BC142696,BX341412,BX643508,D63998,U31520 NP_002363,EAW49048,AAH43416,AAI42657,AAI42697,BAA10017,AAC50302,Q16706,Q49A69 Hs.432822 GOLIM7|MANA2|MANII AMan II|Golgi alpha-mannosidase II|alpha-mannosidase 2|golgi integral membrane protein 7|man II|mannosidase 2, alpha 1|mannosidase, alpha type II|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase protein-coding 1321024 MAN2A2 mannosidase, alpha, class 2A, member 2 1580863 12477932,18839057,3099781,16169070,14759258,8524845,12560567,11530211,9109416,8673525,2829950,2649653,2542563,2541446,2187500,8093218,3264072,1736542,8892864,8218172,2355006,2283726 4122 AK299213,AC067986,AC068831,CH471101,AF116691,AI361497,AI697595,AK289863,AK293799,AK295646,NM_006122,AK308838,AK316150,AL110288,AL832306,BC136448,BC144111,D55649,L28821 NP_006113,EAX02118,EAX02119,EAX02120,EAX02121,EAX02122,EAX02123,EAX02124,AAF71111,BAF82552,BAG57210,BAG58516,BAG61252,BAH14521,AAI36449,BAA09510,AAA92022,P49641,Q9P1E4 Hs.116459 MANA2X MAN IIx|alpha-mannosidase 2x|alpha-mannosidase IIx|mannosidase, alpha type II-X|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase|manosidase, alpha-, type II, isozyme X protein-coding 1348586 MAN2B1 mannosidase, alpha, class 2B, member 1 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. [provided by RefSeq] 1580863 12477932,8910458,16344560,15712269,15489334,12754519,12718372,9915946,9758606,9192839,9158146,8889548,8166692,7832746,3034518,848490,821469,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726,15231748,19722277,20800603 4125 NM_000528,NG_008318,AC010422,CH471106,U60885,U60886,U60887,U60888,U60889,U60890,U60891,U60892,U60893,U60894,U60895,U60896,U60897,U60898,U60899,AB209921,AK291572,AK303418,AU127707,AU128464,AW172353,BC000736,BI828908,BM147968,BM982008,BU659731,CR623129,DB237901,U05572,U60266,U68382,U68567,NM_001173498 NP_000519,EAW84279,EAW84280,EAW84281,AAC51362,BAD93158,BAF84261,BAG64471,AAH00736,AAB03816,AAC34130,AAC50811,AAC50812,O00754,Q59E90,Q93093,ABM82804,ABM85992,NP_001166969 Hs.356769,Hs.657204 LAMAN|MANB OTTHUMP00000209824|lysosomal acid alpha-mannosidase|lysosomal alpha-mannosidase|mannosidase alpha-B|mannosidase, alpha B, lysosomal protein-coding 1318845 MAN2B2 mannosidase, alpha, class 2B, member 2 1580863 1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726,20800603,16303743,16115860,15815621,15489334,12477932,10407159,10231032,9425289,8889548,12560567,8093218,3264072,3099781,2829950,19722277,20379614 23324 NM_015274,AC093323,CH471131,AA453331,AB023152,AK025803,AK075246,AK301473,AL832232,AL833071,BC033307,BC036836,BC094773,BM146210,CF135581 NP_056089,EAW82389,EAW82390,EAW82391,EAW82392,BAA76779,BAG52093,BAH13490,CAD89971,AAH33307,AAH36836,AAH94773,Q05BN7,Q4VC00,Q9Y2E5 Hs.188464 KIAA0935 OTTHUMP00000217460|OTTHUMP00000217558|core-specific lysosomal alpha-1,6-Mannosidase|epididymis-specific alpha-mannosidase protein-coding 733679 MAN2C1 mannosidase, alpha, class 2C, member 1 1580863 2649653,14667819,19018777,17081983,16721356,15489334,12643454,12477932,11230166,9373149,8452531,8125298,3709545,2420791,1757461,752528,396129,12560567,11530211,9109416,8673525,2829950,2542563,2541446,2187500,8093218,3264072,3099781,1736542,8892864,8218172,2355006,2283726,19572206 4123 NM_006715,AC068338,CH471136,AB209141,AF044414,AK225145,AK294892,AK295265,AK301170,AK311065,AL136876,BC010081,BC038594,BC050550,BC080191,BM151712,BX647111,CR602886,U37248 NP_006706,EAW99252,EAW99253,EAW99254,BAD92378,AAC00190,BAG57984,BAG58253,BAG62758,CAB66810,AAH50550,AAH80191,AAC00568,Q59GG8,Q68EM8,Q9NTJ4 Hs.26232,Hs.598731 DKFZp686E23167|MAN6A8|MANA|MANA1|MGC87979 alpha mannosidase 6A8B|alpha-D-mannoside mannohydrolase|alpha-mannosidase 2C1|mannosidase, alpha 6A8|mannosidase, alpha A, cytoplasmic protein-coding 1314025 MANBA mannosidase, beta A, lysosomal This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq] 1580863 19728872,19773279,20332099,17899454,16344560,15489334,12477932,8285582,7876128,12560567,8892864,8218172,2829950,2649653,2542563,2355006,2283726,8093218,3264072,3099781,1736542,11530211,9109416,8673525,2541446,2187500,9384606,20800603 4126 NM_005908,NG_012804,AC018797,AF213884,CH471057,AB209846,AI079197,AK291598,AK300015,AK312827,AU132611,BC015743,CR596300,EU009130,U60337 NP_005899,AAF35233,EAX06137,BAD93083,BAF84287,BAG61830,AAH15743,ABS29701,AAC39573,O00462,Q59EG5 Hs.480415 MANB1 OTTHUMP00000219645|beta-mannosidase|lysosomal beta A mannosidase|mannanase|mannase protein-coding 1353788 MANBAL mannosidase, beta A, lysosomal-like 1580863 17207965,15489334,12477932,11780052 63905 NM_001003897,AL034422,CH471077,AK026708,AK292971,AV753915,BC014672,BC016822,BI754866,BQ051237,CR593416,CR593460,CR594738,CR595823,CR598775,CR602911,CR619234,CR622593,NM_022077 ADQ32409,NP_071360,NP_001003897,CAB92736,EAW76068,EAW76069,EAW76070,EAW76071,BAF85660,AAH14672,AAH16822,Q9NQG1,ACE87702,ACE87014,CAM27612 Hs.6126 OTTHUMP00000030917|OTTHUMP00000178824|protein MANBAL protein-coding 1353697 MANBB mannosidase, beta B, soluble 4127 1345544 MANEA mannosidase, endo-alpha N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM] 18438686,16381901,15760709,15677381,15489336,14702039,14574404,12477932,11230166,11076863,9361017,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,18029348,19255376,20379614 79694 NM_024641,AL671884,AJ577574,AK022900,AK291940,AY048774,AY048775,AY372528,BC137014,BC137016,BC146671,BC150199,BX537398,BX640869,CR936827 NP_078917,CAI17346,CAI17347,CAE12165,BAB14298,BAF84629,AAL07306,AAL07307,AAQ75077,AAI37015,AAI37017,AAI46672,AAI50200,CAD97640,CAE45927,Q5SRI9,Q8WWX4,CAL37750,CAL38349,AAI46690 Hs.727628 DKFZp686D20120|ENDO|FLJ12838|hEndo alpha 1,2-endomannosidase|endo-alpha mannosidase|endomannosidase|glycoprotein endo-alpha-1,2-mannosidase|mandaselin protein-coding 1604520 MANEAL mannosidase, endo-alpha-like 16710414,15489334,14702039,12477932 149175 NM_001113482,NM_001031740,NM_152496,AL929472,CH471059,AB188490,AK055996,AK301399,BC009952,BC031903,BC038190,BC063587,BC077730,BM312572 NP_001106954,NP_001026910,NP_689709,CAH70081,CAH70082,EAX07319,EAX07320,BAB71068,BAG62934,AAH09952,AAH31903,AAH63587,AAH77730,Q5VSG8 Hs.534562,Hs.713176 FLJ31434|MGC78681|RP11-109P14.3 glycoprotein endo-alpha-1,2-mannosidase-like protein protein-coding 1316336 MANF mesencephalic astrocyte-derived neurotrophic factor The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and promotes cell proliferation. The protein was initially thought to be longer at the N-terminus and to contain an arginine-rich region but transcribed evidence indicates a smaller open reading frame that does not encode the arginine tract. The presence of a specific mutation changing the previously numbered codon 50 from ATG to AGG, or deletion of that codon, has been reported in a variety of solid tumors. With the protein size correction, this codon is now identified as the initiation codon. [provided by RefSeq] 1599219,1599220,2325804,2317157,2325813,2325809 15146197,12794311,12665801,12477932,10767373,9230196,9174057,8971156,8649854,19258449,18561914,15489334,14699964,18718866,19399876,19641128,20186704,20685313 1599219,1599220,2325804,2317157,2325813,2325809 7873 NM_006010,AC092037,CH471055,AK292243,BC007282,BC033055,BC113588,BC113590,BT007110,CN410911,M83751,BE514267,CN410909,CQ834850,NG_012652 NP_006001,EAW65138,BAF84932,AAH07282,AAI13589,AAI13591,AAP35774,AAB08753,P55145,ACE87746,ACE87065,CAH05640 Hs.436446 ARMET|ARP|MGC142148|MGC142150 arginine-rich, mutated in early stage tumors|mesencephalic astrocyte-derived neurotrophic factor protein-coding 1353615 MANSC1 MANSC domain containing 1 737633 18029348,15489334,14702039,12975309,12477932 737633 54682 NM_018050,AC007621,CH471094,AK001160,AK023622,AK298681,AY358563,BC032998,CR621081 NP_060520,EAW96254,EAW96255,BAA91526,BAB14621,BAG60844,AAQ88926,AAH32998,Q9H8J5,Q9NW60,ABZ92341 Hs.591145 9130403P13Rik|FLJ10298|LOH12CR3 MANSC domain-containing protein 1|loss of heterozygosity 12 chromosomal region 3 protein protein-coding 735751 MAOA monoamine oxidase A This gene encodes monoamine oxidase A, an enzyme that degrades amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. The protein localizes to the mitochondrial outer membrane. The gene is adjacent to a related gene on the opposite strand of chromosome X. Mutation in this gene results in monoamine oxidase deficiency, or Brunner syndrome. [provided by RefSeq] 1600723,1600725,1600720,1580863 20421737,17220478,8211186,19642709,19625011,19593178,19548263,19539632,19506906,19506579,19492728,19485616,19455600,19415821,19382113,19368859,19357553,19337825,19333405,19309535,19302089,19267171,19255579,19248248,19247474,19223155,19214141,19194374,19168625,19156168,19120058,19100789,19086053,19077664,19058789,19032968,19005081,18971477,18955512,18937309,18845200,18832011,18827956,18810510,18752729,18726986,18676680,18639608,18626920,18607773,18596609,18566880,18544183,18504633,18501009,18486967,18474080,18463263,18454435,18437281,18430257,18405071,18405062,18391214,18388730,18387780,18361446,18337637,18294618,18270970,18261931,18258310,18248494,18239643,18227761,18212819,18188752,18092818,18079067,18075472,18046979,18046978,18029114,18023041,17944104,17943028,17931441,17920180,17894408,17885758,17885625,17884271,17883400,17868476,17728669,17692293,17680543,17657171,17627031,17592478,17585061,17563839,17534436,17519928,17476365,17453062,17449559,17440951,17429405,17427196,17426915,17417058,17400359,17393061,17340199,17328795,17298646,17295220,17230031,17221847,17217235,17208375,17192957,17167335,17141746,17044053,17034017,17026953,17020906,17008143,17007976,16958037,16944667,16930369,16896926,16894395,16893905,16890910,16856146,16848906,16829576,16814261,16806099,16801953,16770335,16763378,16741202,16728402,16725119,16674552,16610949,16584839,16547693,16538182,16538181,16526025,16360899,16319504,16272956,16207390,16202396,16186632,16174289,16139427,16129825,16125147,16110245,16094253,15990460,15956990,15936529,15900229,15870836,15806601,15722955,15694196,15670397,15635592,15564894,15556933,15539858,15523490,15498245,15489334,15486489,15457497,15450911,15349769,15346539,15341275,15292674,15261699,15241435,15211623,15150530,15094788,15088154,15088153,15052272,15034227,15024395,14962671,14697881,14520117,12919132,12886034,12877392,12824808,12815746,12778446,12777388,12773616,12668354,12650952,12648733,12629534,12607224,12566936,12563176,12555234,12555227,12554604,12502014,12497620,12497608,12477932,12445480,12428723,12399942,12360111,12170473,12164325,12163988,12161658,12151768,12140786,12136060,12116182,12098640,11999895,11992560,11992559,11992558,11963571,11812236,11761322,11443519,11353450,11304831,11140838,11121185,10647887,9373149,8889548,8678123,8584674,8316221,8125298,7519662,7063850,3418353,3387449,3178846,2793188,2764901,2414414,2023912,2021654,1886775,1783405,1578281,1432104,11805333,11945082,11927135,11920860,11861643,19913121,20573161,20589923,20595415,20628086,20652353,20691428,20729761,20731636,20734127,1546132,19064571,19170196,19224413,19398936,19573521,19583892,19645722,19657584,19666839,19692168,19693267,19727210,19796878,19818126,19829167,19859025,19874574,19892410,19915868,19935847,19941049,19951362,20010318,20033274,20041956,20046877,20078943,20127808,20152292,20175604,20201935,20206656,20213484,20218801,20303364,20332182,20351714,20354746,20364435,20374544,20435093,20461808,20464528,20468064,20477771,20497231,6408492,6788990,20734064,20862259,20967566,21039487,19777560,20677440,16455660,20204405 1600723,1600725,1600720 4128 BC044787,M68845,M68857,M89636,S72704,S81371,X60811,X60813,X60819,AK223499,AK291769,AK293926,BC008064,NM_000240,NG_008957,AL109855,AY684850,AY684858,AY685682,AY685685,BX530072,BX537147,BX537148,CH471141,BG534382,BT006651,BU684121,BX501303,M68840,M69226,X17192 EAW59381,EAW59382,EAW59383,AAA59547,AAB46385,AAD14113,AAD14361,BAD97219,BAF84458,BAG57307,AAH08064,NP_000231,AAV34705,AAV34711,AAV34717,AAV34720,CAI43216,CAI42421,CAI42424,AAH44787,AAP35297,AAA59548,AAA59549,P21397,Q49A63,Q53EZ0,Q5UL91,Q5UL94,Q5ULA3,Q5ULA9,ABM81602,ABM84783 Hs.183109 MAO-A|amine oxidase [flavin-containing] A|monoamine oxidase type A protein-coding 732580 MAOB monoamine oxidase B The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq] 1358484,1300048,1580863,2307352,2316771 8602220,7063850,19598235,19506579,19455600,15694196,15589121,15461973,15355491,15261699,15247489,15211623,15057517,15028609,15027868,15024015,14962671,14743364,14697881,14659989,12963742,12913124,12855685,12825788,12815741,12815660,12777388,12763335,12732844,12563176,12477932,12465073,12428723,12360111,12136060,12011284,11956220,11861643,11761322,11753429,11396715,11295131,11171904,11049757,10653595,9596006,9045087,8889548,19156168,19221690,19086053,19058789,19053775,18832861,18553363,18430257,18405071,18327668,18270970,18205889,18092818,17938636,17918234,17885758,17640790,17628790,17449559,17427196,17289152,17270484,17044053,16807522,16674552,16610949,16484337,16427095,16366596,16344560,16129825,15955630,15921854,15862518,15772651,15753616,15710600,15699372,8665924,8613523,8515265,8316221,8060341,7499273,6951409,4687789,3540317,3387449,2023912,1432104,12098640,19268543,19657584,19693267,19789505,19863190,19874574,19956754,20022119,20127808,20461808,4016087,16455660,19913121,20589923,20603187,20628086,20734064 1358484,2307352,2316771 4129 NM_000898,NG_008723,AL008709,BX537148,CH471141,M69135,M89637,Z95125,AK294306,AK298942,AK310458,AK312679,AL133791,AU127841,BC022494,BM726427,CA975968,DC326844,M69177,S62734 NP_000889,CAD92552,CAI42422,EAW59378,EAW59379,EAW59380,AAA59551,AAB46386,CAI42522,BAH11728,BAH12909,BAG35560,AAH22494,AAA59550,AAB27229,P27338,Q8TBI1,ACT64566,ACT64567 Hs.654473 MGC26382 MAO, brain|MAO, platelet|MAO-B|adrenalin oxidase|amine oxidase [flavin-containing] B|monoamine oxidase type B|tyramine oxidase protein-coding 736437 MAP1A microtubule-associated protein 1A This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq] 1580863,2304042 20471030,7820861,7806212,7629894,6142895,2470876,8997639,2212989,15231747,20562859,20936779,7908020,12812986,8812494,19251251,19165527,18056259,17081983,16996626,15592455,15591041,15342556,15202935,12477932,12411430,12123681,11925566,11896150,11418592,11278895,11164566,11002287,10747088,9786987,9593747,7908909,15251455,16014633,16478718,16537434 2304042 4130 NM_002373,AC019011,CH471125,U38291,Z47035,Z47038,AF095910,AF200415,AI124707,AK291052,AW296788,AW379921,BC010470,BC055312,BC094702,BI756580,BP309709,BQ000917,CR594234,U14577,U38292,U80458 EAW92606,NP_002364,EAW92607,EAW92608,AAB41132,CAA87104,AAF03480,AAF08305,BAF83741,AAH55312,AAH94702,AAA81362,AAB41133,AAD00355,P78559,Q504X9,Q7Z5F9,Q9UL09,ACX32325 Hs.194301,Hs.619338 FLJ77111|MAP1L|MTAP1A MAP-1A|microtubule-associated protein 1 a|microtubule-associated protein 1-like|microtubule-associated protein 1A|proliferation-related protein p80 protein-coding 733041 MAP1B microtubule-associated protein 1B This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq] 1580863,2304029,2304042,2304007,2304015,2304062,737795 15032605,16014633,18839057,19567321,19615732,12147674,1881920,19054571,18656471,18195017,18079022,18063656,17081983,16996626,16478718,16212419,15762842,15345747,14760703,14702039,12807913,12689591,12684070,12477932,11733546,11102469,11002287,10899930,10764738,9892354,9813091,9570753,9533556,7806212,7519512,2470876,1712602,15205320,15381419,20562859 2304029,2304042,2304007,2304015,2304062,737795 4131 BC139918,BC141853,BC150196,BN001084,BN001085,BX647077,CA429544,CR595522,CR601693,CR613305,CR619734,CR933720,Y09836,AC012609,AC093218,CH471084,L06237,L31916,AF085863,AK055112,AK096273,AK125194,AK307990,AK308147,BC017240,BC025240,BC032516,BC033486,BC039822,BC046114,BC056145,BC062464,BC063669,BC073993,BC094834,NM_005909,BC108733 AAI08734,AAI39919,AAI41854,AAI50197,CAM06633,CAM12311,CAI46250,P46821,Q05BW8,Q32NB7,Q4VBY4,Q5H9P1,Q6PJD3,Q86X89,AAI72388,NP_005900,EAW95696,EAW95697,EAW95698,EAW95699,EAW95700,AAA18904,AAH17240,AAH32516,AAH46114,AAH94834 Hs.335079 DKFZp686E1099|DKFZp686F1345|FLJ38954|FUTSCH|MAP5 MAP-1B|microtubule-associated protein 1B protein-coding 1605558 MAP1D methionine aminopeptidase 1D The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM] 14532271,16568094,14702039,12477932,19913121,20628086,20379614,20877624 254042 CH471058,CQ819354,AK093827,AY374142,BC029123,BC113644,BC143913,DQ005576,NM_199227,AC015976 EAX11188,EAX11189,EAX11190,EAX11191,CAG34354,AAR27795,AAI13645,AAY55948,Q6UB28,NP_954697 Hs.298250 MAP1D|Metap1l CDS of metAP-3 within PCR fragment|methionine aminopeptidase 1D, mitochondrial protein-coding 1347480 MAP1LC3A microtubule-associated protein 1 light chain 3 alpha MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1643329,1643198,1580863,4890444 17804493,17580304,17438365,17102583,16381901,15857831,15489336,15489334,15383276,15213446,12477932,11780052,11278895,11230166,11076863,8833088,7908909,2470876,8997639,2212989,16169070,20639871,20382705,16303767,11096062,12740394,15187094,19322194,18695874,18688877,18653543,20562859,19250911,19623642,19696020,19812190,20004946,20023420,20061800,20398630,20352102,20713600,20479004,20937856,21048031 1643329,1643198,4890444 84557 NM_181509,NM_032514,AL118520,CH471077,AF276658,AL833855,BC015810,BM919877,BT007452,CR597014,H18312 NP_852610,NP_115903,CAC14078,CAI40290,EAW76263,EAW76264,EAW76265,EAW76266,AAK35151,CAD38714,AAH15810,AAP36120,Q9H492,CAL37468,ABM84567,ABM86462 Hs.632273 ATG8E|LC3|LC3A|MAP1ALC3|MAP1BLC3 MAP1 light chain 3-like protein 1|MAP1A/1B light chain 3 A|MAP1A/MAP1B LC3 A|MAP1A/MAP1B light chain 3 A|OTTHUMP00000030698|autophagy-related protein LC3 A|autophagy-related ubiquitin-like modifier LC3 A|microtubule-associated proteins 1A/1B light chain 3|microtubule-associated proteins 1A/1B light chain 3A protein-coding 1350223 MAP1LC3B microtubule-associated protein 1 light chain 3 beta The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq] 1643329,1580863,4890444 15187094,15355958,12740394,11256614,16303767,18083104,18184459,19250911,19623642,20038797,16381901,16344560,16189514,16169070,15489336,15489334,15325588,15231747,14713272,14702039,12932674,12477932,11890701,11825910,11076863,11060023,8997639,2212989,20562859 1643329,4890444 81631 NM_022818,AC010531,CH471114,AF087871,AF183417,AF303888,AK024571,AK025556,AK290956,AK310224,AK310335,AL834298,BC018634,BC041874,BC045759,BC048009,BC067797,BG771621,CR590953,CR591139,CR601539,CR611354,CR614938,DA577457,DB055844 EAW95392,EAW95393,NP_073729,EAW95394,EAW95395,EAW95396,EAW95397,EAW95398,EAW95399,AAM10499,AAG09686,AAG23182,BAB15169,BAF83645,CAD38970,AAH18634,AAH41874,AAH45759,AAH67797,Q49A36,Q658J6,Q9GZQ8,CAL38438,ABM84078,ABM87447 Hs.356061 ATG8F|LC3B|MAP1A/1BLC3 MAP1 light chain 3-like protein 2|MAP1A/MAP1B LC3 B|MAP1A/MAP1B light chain 3 B|autophagy-related protein LC3 B|autophagy-related ubiquitin-like modifier LC3 B|microtubule-associated proteins 1A/1B light chain 3|microtubule-associated proteins 1A/1B light chain 3B protein-coding 2301276 MAP1LC3B2 microtubule-associated protein 1 light chain 3 beta 2 16541075,19684603 643246 NM_001085481,AC090670,AC125603,CH471054 NP_001078950,EAW98085,A6NCE7,AAI56863 Hs.506947 ATG8G Microtubule-associated proteins 1A/1B light chain 3B-like protein|microtubule-associated protein 1 light chain 3 beta-like|microtubule-associated proteins 1A/1B light chain 3 beta 2 protein-coding 1606859 MAP1LC3C microtubule-associated protein 1 light chain 3 gamma Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is 1 of 3 orthologs of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM] 4890444 20562859,12740394,16710414,15489334,15187094,15146197,12477932,8997639,2212989,19250911 4890444 440738 NM_001004343,BX571673,CH471098,AF276659,BC127722,BC132986,BC132988,CN260933 NP_001004343,CAH72477,EAW70108,AAK35152,AAI27723,AAI32987,AAI32989,Q9BXW4 Hs.534971 ATG8J|LC3C LC3-like protein 2|MAP1 light chain 3-like protein 2|MAP1 light chain 3-like protein 3|MAP1A/MAP1B LC3 C|MAP1A/MAP1B light chain 3 C|autophagy-related protein LC3 C|autophagy-related ubiquitin-like modifier LC3 C|microtubule-associated proteins 1A/1B light chain 3C protein-coding 1350200 MAP1LC3P microtubule-associated protein 1 light chain 3 pseudogene 387615 NG_004859,AC098848,AY389342 HsT312 pseudo 1317942 MAP1S microtubule-associated protein 1S 15964851,19759419,15907802,15528209,12762840,16297881,17658481,19027008,16396496,15302935,14702039,14627543,12477932,11827465,15753381,15205320,20562859 55201 AC008761,CH471106,AA905204,AB062430,AJ440784,AK001531,AK023118,AK027623,AK292555,AK294936,AK308975,AL834233,BC006358,BC007253,BC008806,BC067115,BC080547,BC113952,BG771546,CR593726,CR610661,CR620607,DQ387861,NM_018174 NP_060644,EAW84626,BAB93493,CAD29574,BAA91743,BAB14415,BAB55242,BAF85244,BAG58014,CAD38911,AAH06358,AAH07253,AAH08806,AAH67115,AAH80547,AAI13953,ABD47682,Q66K74 Hs.66048 BPY2IP1|C19orf5|FLJ10669|MAP8|MGC133087|VCY2IP-1|VCY2IP1 BPY2 interacting protein 1|BPY2-interacting protein 1|MAP-1S|VCY2 interacting protein 1|VCY2-interacting protein 1|bpy2 interacting protein 1|microtubule-associated protein 1S|microtubule-associated protein 8|variable charge Y chromosome 2-interacting protein 1 protein-coding 733668 MAP2 microtubule-associated protein 2 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isforms have been described. [provided by RefSeq] 1580863 1902666,10862698,7556643,12629046,1494913,9588626,19369632,19309409,19165527,19009302,18073143,17326138,17081983,16916793,16611822,16195780,16145685,15822905,15623521,15536091,15465982,15345747,15146346,14759258,14702039,14604896,14594945,12927759,12890753,12775713,12605092,12477932,12082079,12079519,12023276,11922706,11546790,11171103,11029056,10781592,10527895,8631898,8624078,8294038,7854050,7479905,3200318,3103857,3027087,2701845,2561973,2481044,2455776,1708129,15285795,15285794,8997639,2212989,19913121,20628086,18341635,19701075,19880519,20379614,9384577,20092829 4133 NM_002374,NM_031847,NM_031845,AC006385,AC019106,AC079833,AC108072,CH471063,NM_001039538,U34061,AB209330,AF088065,AK055674,AK056148,AK291446,AK307603,AL833567,AV718243,BC027583,BC038857,BC066648,BC110423,BC117123,BC143245,BX431335,BX474027,BX485448,BX490896,CK903071,M25668,S76756,U01828,U89329,U89330 NP_001034627,NP_002365,NP_114035,NP_114033,EAW70453,EAW70454,EAW70455,EAW70456,EAW70457,EAW70458,EAW70459,EAW70460,EAW70461,EAW70462,EAW70463,EAW70464,BAD92567,BAF84135,AAH38857,AAH66648,AAI10424,AAI17124,AAI43246,AAA59552,AAB33379,AAA03354,AAB48097,AAB48098,P11137,Q16296,Q59FX9,Q6NYC5,Q8IUX2,AAI72263,AAI72568 Hs.368281 DKFZp686I2148|MAP2A|MAP2B|MAP2C MAP-2|OTTHUMP00000163916|OTTHUMP00000208143|microtubule-associated protein 2 protein-coding 732023 MAP2K1 mitogen-activated protein kinase kinase 1 The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq] 1626216,2292630,2292631,2306052,2298686,2306053,2292627,1580863,1580093,1582169,1357969,1302505,2292629 20956560,10912793,10570282,19453261,19447520,19411838,19342664,19261809,19206169,19164283,19156172,19153083,19133693,19056740,19014680,19001375,18660489,18632602,18617556,18593598,18533112,18434598,18424438,18413255,18390968,18192500,18060073,18042262,17981815,8226933,8157000,8131746,7969158,7957875,7731720,7624324,7601337,1281467,12775419,12089333,9564043,16454711,15638726,11726657,10402467,9006895,11279118,8900182,10969079,8631303,15866172,14724641,15258589,17951252,17704260,17667937,17603482,17490600,17461449,17419998,17366577,17260965,17197157,17192257,17182854,17101779,17054908,17038630,16957420,16861903,16820947,16737746,16728640,16439621,16344560,16313339,16239230,16086581,15979847,15888452,15757891,15665520,15657590,15657353,15615716,15572374,15557124,15543157,15538402,15353548,15302887,15297310,15292274,15284233,15069060,15021912,15020233,14672918,14656894,14581471,12975377,12917419,12839928,12807433,12792650,12697810,12689928,12682854,12663662,12612059,12609978,12594221,12556561,12531514,12522145,12522135,12482669,12456688,12370306,12167619,12063167,12032872,11948406,11891225,11823456,11741894,11684694,11604401,11579140,11535599,11409852,11352917,11278389,11266467,11260070,11226259,11134045,11104681,11044439,11044099,10997882,10982368,10848576,10828601,10806207,10799874,10780709,10757792,10748187,10716983,10523642,10509564,10489373,10395327,9841871,9733512,9621077,9563949,9558095,9553107,9465908,9351825,9325171,9223324,8939914,8626767,8621729,8529659,8394352,8388392,15299019,11520933,10712923,11741534,11940661,12477932,15520859,16093354,16810323,17979178,18329369,19500021,19567590,19681119,19802003,19816936,19858308,20007706,20056645,20179161,20299489,20302979,20354455,9069267,9765203,15276183,20172001,19625741,19835659,18029348,20926789,20512084,20676060,20610816,20936779 1626216,2292630,2292631,2306052,2298686,2306053,2292627,1580093,1582169,1357969,1302505,2292629 5604 NM_002755,NG_008305,AC011276,AC055855,AC116913,CH471082,AK291500,AK294322,AK312356,BC137459,BC139729,BE856741,BG709050,CA419665,CR604502,CR621481,DA653983,L05624,L11284 NP_002746,EAW77765,EAW77766,EAW77767,EAW77768,EAW77769,BAF84189,BAG57596,AAI37460,AAI39730,AAA36318,Q02750 Hs.145442 MAPKK1|MEK1|MKK1|PRKMK1 ERK activator kinase 1|MAP kinase kinase 1|MAPK/ERK kinase 1|MAPKK 1|MEK 1|dual specificity mitogen-activated protein kinase kinase 1|mitogen activated protein kinase kinase 1|protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1) protein-coding 1350730 MAP2K1P1 mitogen-activated protein kinase kinase 1 pseudogene 1 29778 AF157487,NG_001273,AC044849 pseudo 1343460 MAP2K2 mitogen-activated protein kinase kinase 2 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq] 1626216,2298686,2292627,1580863 20936779,11909642,11520933,8388392,19496172,19453261,19447520,19206169,19164283,19156172,19014680,18617556,10489373,10224087,9915804,9781012,9733512,9671314,9621077,9563949,9558095,9427625,9325171,9223324,9159118,8702863,8668348,8626767,8529659,8393135,8226933,8157000,7839144,7687743,7566098,16103188,12775419,12089333,16454711,15638726,11726657,9006895,14724641,10712923,17380122,17643375,19500021,19681119,19816936,19858308,20302979,9069267,9808624,15276183,20837746,18424438,10509564,18413255,18390968,18060073,18042262,17981815,17704260,17603482,17461449,17419998,17366577,17192257,17101779,17081983,17038630,16964243,16957420,16651638,16439621,16332685,16239230,15979847,15543157,15489334,15302935,15292274,15284233,15071496,14702039,14672918,14656894,14517288,14499342,12839928,12792650,12612059,12582162,12531514,12505790,12482669,12477932,12167619,12063167,12032872,11823456,11579140,11409852,11260070,11134045,11104681,11044099,10982368,10862698,10828601,10799874,10780709,20172001,20358587 1626216,2298686,2292627 5605 NM_030662,NG_007996,AC016586,CH471139,AA312322,AK093125,AK126446,AK129586,BC000471,BC018645,BX538081,CR609681,CR615045,CR617539,L11285 NP_109587,EAW69262,EAW69263,EAW69264,EAW69265,BAG52659,BAC85187,AAH00471,AAH18645,CAD98005,P36507,Q6ZPC5,Q7Z370,ABM84527,ABM85986 Hs.465627 FLJ26075|MAPKK2|MEK2|MKK2|PRKMK2 ERK activator kinase 2|MAP kinase kinase 2|MAPK/ERK kinase 2|MAPKK 2|MEK 2|OTTHUMP00000165827|dual specificity mitogen-activated protein kinase kinase 2|mitogen-activated protein kinase kinase 2, p45 protein-coding 1315342 MAP2K3 mitogen-activated protein kinase kinase 3 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq] 1641940,2293891,2298758,1580863 12761180,19672773,15276183,7839144,11980910,19047046,17438131,17406030,16728640,16709574,16344560,15797859,15778394,15677464,15516490,15489334,15375157,14702039,13679851,12589052,12477932,12377770,12054652,12024021,11971971,11414763,11279172,11279118,11181995,11062067,10997882,10856288,10497253,9841871,9786855,9768359,9465908,9373149,9038352,8900184,8626699,8622669,8226933,8125298,7750576,11562357,11062068,15866172,16341674,20805296,21048031 1641940,2293891,2298758 5606 DA987047,NM_145109,NM_002756,AC087294,CH879350,U66840,AB451226,AB451349,AI758302,AK093838,AK223490,AK315505,BC032478,BM836867,CR536514,CR541793,CR597835,D87116,DA131175,L36719,U66839,GQ225578 NP_659731,NP_002747,EAW50386,AAB40653,BAG70040,BAG70163,BAG52769,BAD97210,BAG37889,AAH32478,CAG38752,CAG46592,BAA13248,AAC41718,AAB40652,P46734,Q53EZ9,Q6FHG1,Q6FI23,ABM85114,ACT33197 Hs.514012 MAPKK3|MEK3|MKK3|PRKMK3 MAP kinase kinase 3|MAPK/ERK kinase 3|MAPKK 3|MEK 3|OTTHUMP00000166044|dual specificity mitogen-activated protein kinase kinase 3|mitogen activated protein kinase kinase 3 protein-coding 1316000 MAP2K4 mitogen-activated protein kinase kinase 4 This gene encodes a dual specificity protein kinase that belongs to the Ser/Thr protein kinase family. This kinase is a direct activator of MAP kinases in response to various environmental stresses or mitogenic stimuli. It has been shown to activate MAPK8/JNK1, MAPK9/JNK2, and MAPK14/p38, but not MAPK1/ERK2 or MAPK3/ERK3. This kinase is phosphorylated, and thus activated by MAP3K1/MEKK. The knockout studies in mice suggested the roles of this kinase in mediating survival signal in T cell development, as well as in the organogenesis of liver. [provided by RefSeq] 2289400,2293334,2293338,2306057,2293332,2298561,2298577,2293875,2293337,2293333,1580863 9808624,15299019,16533805,7716521,19351817,19265040,19012245,19001375,18713996,18436711,14511403,14504284,13130464,12788955,12730213,12714585,12556533,12477932,12456688,12391307,12368275,12223490,12220515,12189133,11836244,11754110,11707464,11346645,11306453,11104681,11090355,11062067,10715136,10521444,10489373,10187804,9841871,9761781,9661668,9622070,9582321,9405400,9331070,9182538,9162092,9006895,9002521,8786147,8755474,8631303,7997270,7839144,18337456,17675521,17389591,17322004,17178861,17158870,17009014,16964394,16802349,16709574,16627982,16388335,16339111,16197369,16167336,15911620,15737736,15670787,15623633,15592684,15496400,15328343,15262961,15256484,14716300,14702039,14661062,20309881,20732303,18408005,10713157,12659851,11279118,9207092,11562357,10523642,9712898,15866172,10969079,20554746,15276183,21048031,17110930,19351724,19513509,19610067,19638505,19861690,20156194 2289400,2293334,2293338,2306057,2293332,2298561,2298577,2293875,2293337,2293333 6416 CR536564,CR600508,CR601866,L31902,L36870,U17743,NM_003010,AC005244,AC005410,AF070082,AF070085,AF070088,AF070090,CH471108,DQ015703,AA293365,AK122997,AK131544,AK294923,AK313053,AK316100,AK316177,BC036032,BC050386,BC060764,BT019676 CAG38801,AAC41719,AAC50127,P45985,AAV38482,NP_003001,AAC24130,EAW89973,EAW89974,EAW89975,EAW89976,AAY22176,BAG54774,BAG58005,BAG35884,BAH14471,BAH14548,AAH36032,AAH60764 Hs.514681 JNKK|JNKK1|MAPKK4|MEK4|MKK4|PRKMK4|SEK1|SERK1 JNK activating kinase 1|JNK-activated kinase 1|JNK-activating kinase 1|MAP kinase kinase 4|MAPK/ERK kinase 4|MAPKK 4|MEK 4|SAPK/ERK kinase 1|c-Jun N-terminal kinase kinase 1|dual specificity mitogen-activated protein kinase kinase 4 protein-coding 735708 MAP2K5 mitogen-activated protein kinase kinase 5 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq] 2298795,1582263,2298532,1580866,1580863,1582271 12842996,16730941,19605361,19822783,20396431,16758967,20936779,7759517,17474147,19279021,19223043,18071319,17872495,17637780,16728640,15489334,15378007,15075238,14743216,14702039,14583600,12618764,12477932,12219026,11520859,11387209,11158308,11073940,10593883,10531364,9790194,9384584,7499418,12813044,12659851,12628002,19913121,20628086,15805119,20935630 2298795,1582263,2298532,1580866,1582271 5607 HH961878,NM_145160,NM_002757,AC009292,AC016355,AC103753,CH471082,AK024766,AK057521,AK293459,AK315435,BC008838,BI460343,BT006780,CR542229,CR592618,CR611862,CR620602,CR624401,U71087,U71088 CBX51412,NP_660143,NP_002748,EAW77799,EAW77800,EAW77801,EAW77802,BAG51927,BAG56954,BAG37823,AAH08838,AAP35426,CAG47025,AAB16851,AAB16852,Q13163 Hs.114198 HsT17454|MAPKK5|MEK5|PRKMK5 MAP kinase kinase 5|MAP kinase kinase MEK5b|MAPK/ERK kinase 5|MAPKK 5|MEK 5|dual specificity mitogen-activated protein kinase kinase 5 protein-coding 732805 MAP2K6 mitogen-activated protein kinase kinase 6 This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq] 2293334,2293337,2298758,2293338,2293891,1582277,1302548,1580863,1582275 19913121,20628086,10848581,12761180,8621675,19234473,19141286,19047046,18327563,16960152,16728640,16498455,16344560,16342939,16313339,15866172,15790570,15778394,15722372,15677464,15550393,15516490,15492008,15489334,15375157,12589052,12509443,12477932,12054652,11971971,11836244,11727828,11460167,11279118,11104681,11062067,10961885,10570156,10497253,9841871,9768359,9430721,9373149,9218798,8861944,8663074,8626699,8622669,8125298,19846005,19672773,20162623,20364819,9808624,15276183,15923648,7750576,14633987,10838074,10094049,11562357,12820963,11689443,12697810,11062068,20805296 2293334,2293337,2298758,2293338,2293891,1582277,1302548,1582275 5608 AC002546,AC015920,CH471099,AA932919,AB451252,AB451376,AK225719,AK290747,BC012009,BX641121,CR604345,CR616398,CR624804,CR625265,NM_002758,D87905,DB111443,U39064,U39065,U39656,U39657,U49732,X96757,EU332850 NP_002749,EAW89084,EAW89085,EAW89086,BAG70066,BAG70190,BAF83436,AAH12009,CAE46056,BAA13496,AAB03708,AAB03705,AAC50388,AAC50389,AAB05035,CAA65532,P52564,Q6MZH7,ABM82414,ABM85599,ABY87539 Hs.463978 MAPKK6|MEK6|MKK6|PRKMK6|SAPKK3 MAP kinase kinase 6|MAPK/ERK kinase 6|MAPKK 6|MEK 6|dual specificity mitogen-activated protein kinase kinase 6|protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) protein-coding 1347407 MAP2K7 mitogen-activated protein kinase kinase 7 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found, but only one transcript variant has been supported and defined. [provided by RefSeq] 2293334,2293337,2298567,2298561,2293875,2298577,2293338,1580863 9535930,15299019,14697235,18713996,18436711,18343408,18222647,17485467,16802349,16533805,16442502,15489334,13130464,12477932,12220515,11891214,11390361,11318610,11274363,11104681,9661668,9488659,9372971,9312068,9207092,16243842,12138158,10756100,10490659,15465036,14743220,11959862,11959861,12189133,10629060,10713157,10187804,11062067,11836244,15866172,15001580,15753034,12659851,10347227,10969079,11726277,14968112,16169070,16313339,16456539,17110930,18286207,20156194,15276183,20589678 2293334,2293337,2298567,2298561,2293875,2298577,2293338 5609 NM_145185,AC010336,CH471139,AF003199,AF006689,AF013588,AF013589,AF014401,AF022805,AK098807,AK300988,AK313899,BC005365,BC038295,CR604614,DQ445915 NP_660186,EAW68962,EAW68963,EAW68964,EAW68965,EAW68966,EAW68967,EAW68968,AAB63374,AAB97813,AAC16272,AAC16273,AAB88048,AAC26142,BAG62607,BAG36622,AAH38295,ABE03013,O14733,ABM82200,ABM85388 Hs.531754 Jnkk2|MAPKK7|MKK7|PRKMK7 JNK kinase 2|JNK-activating kinase 2|JNKK 2|MAP kinase kinase 7|MAPK/ERK kinase 7|MAPKK 7|MEK 7|c-Jun N-terminal kinase kinase 2|dual specificity mitogen-activated protein kinase kinase 7 protein-coding 733801 MAP3K1 mitogen-activated protein kinase kinase kinase 1 MAP3K, or MEK kinase, is a serine/threonine kinase that occupies a pivotal role in a network of phosphorylating enzymes integrating cellular responses to a number of mitogenic and metabolic stimuli, including insulin (MIM 176730) and many growth factors.[supplied by OMIM] 2289657,2293875,2293879,2293357,2293356,1580863,1357969,737800 20453838,10523642,9135144,11884395,10829020,9452471,9563508,10969079,9712898,9405400,15866172,12049732,15829968,21129722,14968112,15001576,17906693,19330030,19513748,19617217,19789366,19843670,20128690,20145138,20237344,20417875,9808624,15276183,10465784,19453261,19289468,19262425,19232126,19094228,19028704,18984593,18973230,18785201,18784253,18521924,18467339,18437204,18434448,18420486,18355772,18308848,18287093,18032450,17997823,17889508,17529967,17397260,17301822,16760432,16714289,16636664,16434970,16344560,16286467,16046415,16044153,15299005,15205333,14743216,14612408,14500727,12878610,12763138,12600818,12584189,12456688,12228228,12185592,12079429,12048245,11971971,11971970,11903060,11815602,11784851,11782455,11756439,11746500,10805784,10611349,9836645,9689078,9008162,8597633,10713157,11057907,10346818,9733714,19690564,19913121,20554749,20605201,20628086,20809358,15684388,20923779,20940704 2289657,2293875,2293879,2293357,2293356,1357969,737800 4214 NM_005921,AC008937,U29671,AA602425,AF042838,AK307828,BU194120,BX537527,DA889202 NP_005912,AAB05828,AAC97073,Q13233 Hs.653654 MAPKKK1|MEKK|MEKK1 MAP/ERK kinase kinase 1|MAPK/ERK kinase kinase 1|MEK kinase 1|MEKK 1|mitogen-activated protein kinase kinase kinase 1 protein-coding 1318115 MAP3K10 mitogen-activated protein kinase kinase kinase 10 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq] 2293875,1580863 8195146,10801775,19332348,17584736,17121608,15753034,15062575,14504284,12477932,12105200,11850617,11416147,11152698,11076863,9742220,9629920,20596961,20936779,9516438,9182538,9427749,8536694,8477742,7731697,19019082,10490659,12881483,19801649 2293875 4294 NM_002446,AC011496,AC118344,CH471126,BF594729,BU633407,CR605472,X90846,Z48615 NP_002437,EAW56937,CAA62351,CAA88531,Q02779,AAI11461 Hs.466743 MEKK10|MLK2|MST MKN28 derived nonreceptor_type serine/threonine kinase|MKN28 kinase|mitogen-activated protein kinase kinase kinase 10|mixed lineage kinase 2|protein kinase MST protein-coding 1347603 MAP3K11 mitogen-activated protein kinase kinase kinase 11 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq] 2298577,2298567,2293875,2293876,1580863 11784851,9829970,8195146,15258589,12529434,18851832,18222647,17711861,17584736,17192257,16964243,16687404,16537381,16344560,16253996,15923109,15489334,15001580,14702039,14504284,12504027,12477932,12458207,12376551,11969422,11713255,11590155,11306803,11053428,10799501,10713178,10629060,10490659,10187804,9430657,9427749,9373149,9267807,8183572,8125298,12354290,12190962,11152698,20936779,15069087,16456539,19586614,19782705,19955118,20145118,20150185,20158498,20514022,20937558 2298577,2298567,2293875,2293876 4296 AP001362,CH471076,CS079388,AB209655,AK057256,AK090614,AK092015,AK222781,AK299609,AK315557,AK316032,AU119082,BC011263,BC064543,CR608023,L32976,U07747,NM_002419 Q16584,NP_002410,EAW74417,EAW74418,CAI94235,BAD92892,BAG51893,BAG52196,BAD96501,BAG61538,BAG37933,BAH14403,AAH11263,AAH64543,AAA59859,AAA19647 Hs.502872 MEKK11|MGC17114|MLK-3|MLK3|PTK1|SPRK SH3 domain-containing proline-rich kinase|mitogen-activated protein kinase kinase kinase 11|mixed lineage kinase 3|protein-tyrosine kinase PTK1|src-homology 3 domain-containing proline-rich kinase protein-coding 737536 MAP3K12 mitogen-activated protein kinase kinase kinase 12 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a leucine-zipper domain, and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. [provided by RefSeq] 2293875,1580863 16169070,14697235,9353328,7983011,8663324,19146952,18995835,15695824,15611134,15489334,14702039,14504284,12477932,10922377,10801814,10490457,10442638,10187804,8637721,8037767,7790002,10490659,19675578,19730683,19851984,20029029 2293875 7786 NM_001193511,NM_006301,AC023509,AF283475,CH471054,AB209453,AK094195,AK314530,BC037585,BC050050,U07358 NP_001180440,NP_006292,AAL67158,EAW96712,EAW96713,EAW96714,EAW96715,EAW96716,BAD92690,BAG52841,AAH50050,AAA67343,Q12852,Q59FK7 Hs.713539 DLK|MEKK12|MUK|ZPK|ZPKP1 MAPK-upstream kinase|dual leucine zipper bearing kinase|dual leucine zipper kinase DLK|leucine zipper protein kinase|leucine-zipper protein kinase|mitogen-activated protein kinase kinase kinase 12|mixed lineage kinase|protein kinase MUK|zipper protein kinase protein-coding 1351586 MAP3K13 mitogen-activated protein kinase kinase kinase 13 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq] 2293875,1580863 11726277,11163770,9353328,12492477,15489334,12477932,12186766,8274451,20379614 2293875 9175 AB001872,AK296961,AK297646,AK302951,AK312714,BC031677,BC111726,Z25428,NM_004721,AC099661,AC132516,CH471052 BAA24817,BAG59505,BAG60014,BAG64106,BAG35589,AAH31677,AAI11727,CAA80915,O43283,NP_004712,EAW78224,EAW78225 Hs.656069 LZK|MEKK13|MGC133196 MLK|OTTHUMP00000210397|OTTHUMP00000210398|OTTHUMP00000210400|leucine zipper-bearing kinase|mitogen-activated protein kinase kinase kinase 13|mixed lineage kinase protein-coding 1321416 MAP3K14 mitogen-activated protein kinase kinase kinase 14 This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq] 2292172,1580863 20501937,9520446,10094049,10733566,11035039,12874243,16286467,18022362,19453261,19262425,18752500,18439422,18434448,18056702,17729113,17543278,16344560,16009713,15489334,15252129,15208311,15084608,14743216,14743126,12853971,12477932,12393548,12049732,11801607,11585904,11511100,11278268,11239468,11116146,11002417,10887201,10779355,10521444,10195894,10072079,10022904,9927690,9819420,9799091,9751059,9742107,9689078,9346485,9275204,9244310,9020361,10921914,20735436,21048031,20125184,17158868,20682767,20937806,20466000,15001576,19641626,19641890,19646419,19897484,19909783,20348096 2292172 9020 NM_003954,AC003070,AC003963,AC008105,CH471178,DQ314874,AK123696,AK131438,AK290203,AK313085,BC022296,BC035576,BU623799,CR612342,CR749592,DA856801,Y10256 NP_003945,EAW51529,EAW51530,ABC40733,BAD18584,BAF82892,AAH35576,CAH18391,CAA71306,Q68D39,Q6ZMZ1,Q99558,ABM84990 Hs.404183 FTDCR1B|HS|HSNIK|NIK NF-kappa-beta-inducing kinase|mitogen-activated protein kinase kinase kinase 14|serine/threonine protein-kinase|serine/threonine-protein kinase NIK protein-coding 1345894 MAP3K15 mitogen-activated protein kinase kinase kinase 15 18029348,15772651,14702039,15146197,20362554,20562859 389840 AL732326,AL732423,CH471074,AK122632,AK131412,AK131477,NM_001001671,CN293540,DV080548,NG_021184 NP_001001671,EAW98962,EAW98963,BAG53631,BAD18559,BAD18622,Q6ZN16 Hs.713701 ASK3|FLJ16518|bA723P2.3 MAPK/ERK kinase kinase 15|MEK kinase 15|MEKK 15|OTTHUMP00000183505|apoptosis signal-regulating kinase 3|mitogen-activated protein kinase kinase kinase 15 protein-coding 1354206 MAP3K2 mitogen-activated protein kinase kinase kinase 2 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq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s.145605 MEKK2|MEKK2B MAP/ERK kinase kinase 2|MAPK/ERK kinase kinase 2|MEK kinase 2|MEKK 2|OTTHUMP00000203817|mitogen-activated protein kinase kinase kinase 2 protein-coding 1312092 MAP3K3 mitogen-activated protein kinase kinase kinase 3 This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 2293891,2293875,2293879,2298532,1580863 20495538,20936779,12065326,9373149,11429546,11256614,11230166,11076863,11073940,10700190,10593883,9452471,8889548,8125298,16169070,15205325,20448038,9006902,14743216,12761501,15001576,19265138,18391951,18308725,17985933,16737960,16407301,16381901,16260783,16039990,15572679,15489336,15047705,14702039,14662759,14661019,12912994,12477932,12392720,12391307,10085062,12813044,14681216,1474216,16126726,19560753,19903815,20068038,19913121,20628086 2293891,2293875,2293879,2298532 4215 BM728104,NM_002401,AC046185,CH471109,CQ760470,AF172823,AK022333,AK225784,AK308152,AK315305,AL834303,BC008336,BC010464,BC018021,BC090859,BC093672,BC093674,BC143224,BC143235,BM479726,NM_203351,BM800091,BQ643432,BU633068,DQ454151,U78876 NP_976226,NP_002392,EAW94297,EAW94298,EAW94299,CAF32906,AAQ13617,BAG37709,CAD38973,AAH08336,AAH90859,AAH93672,AAH93674,ABE11554,AAB41729,Q1PBM3,Q7Z4E6,Q96HN9,Q99759,CAL37711 Hs.29282 MAPKKK3|MEKK3 MAP/ERK kinase kinase 3|MAPK/ERK kinase kinase 3|MEK kinase 3|MEKK 3|mitogen-activated protein kinase kinase kinase 3 protein-coding 1322520 MAP3K4 mitogen-activated protein kinase kinase kinase 4 The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Two alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq] 2293875,2293879,1580863 16256071,16157600,15881658,15601262,15262978,14702039,12878610,12477932,12052864,11498536,9841871,9827804,9482735,9305638,9079650,9039502,7566098,15866172,14743220,14968112,9305639,17496914,20624154,20221403,20936779 2293875,2293879 4216 BC143750,NM_006724,AL109942,AL139393,AL591045,AL596452,CH471051,AA314177,AF002715,AF116604,AK124430,AK307866,BC136276,BC143735,BC143743,NM_005922,BC146770,BQ009477,D86968 NP_005913,NP_006715,CAC12766,CAI21477,CAI20815,CAI20816,CAH70639,CAH70640,CAI41308,CAI41309,CAI41310,EAW47586,EAW47587,AAB68804,AAF71029,AAI36277,AAI43736,AAI46771,BAA13204,Q9P1M2,Q9Y6R4 Hs.390428 FLJ42439|KIAA0213|MAPKKK4|MEKK4|MTK1|PRO0412 MAP three kinase 1|MAP/ERK kinase kinase 4|MAPK/ERK kinase kinase 4|MEK kinase 4|MEKK 4|OTTHUMP00000017559|OTTHUMP00000017560|SSK2/SSK22 MAP kinase kinase kinase, yeast, homolog of|dJ473J16.1 (mitogen-activated protein kinase kinase kinase 4)|mitogen-activated protein kinase kinase kinase 4|predicted protein of HQ0412 protein-coding 1315043 MAP3K5 mitogen-activated protein kinase kinase kinase 5 Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq] 2293891,2296020,2298708,2293875,1580863 14743220,20674765,20213747,16038411,16407264,20430109,20562859,20936779,20800594,17210579,14761963,11920685,8974401,19306926,19293155,19287004,19004820,19001375,18841476,18822283,18759454,18501712,18380010,18327563,18292600,18219322,18211888,18178252,18054391,18028450,17937911,17883330,17827388,17652454,17595347,17543279,17541429,17456047,17389591,17331470,17325029,17244475,17220297,16648474,16644673,16636664,16532036,16515547,16512785,16476732,15925322,15866172,15864780,15843568,15782121,15755722,15701637,15670787,15489334,15328343,15310755,15246877,15218033,15210709,15094778,15023544,14688258,14668338,14574404,12968034,12912994,12819028,12813029,12697749,12566458,12556535,12543931,12482984,12477932,12473108,12391142,12372597,12244106,12189133,12089063,12077134,12050113,11959862,11689443,11493600,11427728,11416155,11356842,11336675,11298454,11278289,11154276,11096076,11090355,11003656,10921914,10734135,10523862,10411906,9875215,9774977,9743501,9651337,9564042,9465908,8940179,11323689,12820963,17015619,14607843,20512919,11495919,14968112,16316999,17292829,19351724,19570911,19590015,19748889,19880523,19903888,19920149,19935702,19940360,19961619,20035634,20048146,20130137,20185809,20364819,20379614,20601186,19913121,20628086 2293891,2296020,2298708,2293875 4217 NM_005923,NG_011965,AL024508,AL121933,CH471051,AB209093,AK293953,AK294507,AK310942,BC054503,BC088829,D84476,U67156 NP_005914,CAI20176,CAI15470,EAW47942,BAD92330,BAG57328,BAG57723,AAH54503,AAH88829,BAA12684,AAC50894,Q59GL6,Q99683 Hs.186486 ASK1|MAPKKK5|MEKK5 ASK-1|MAP/ERK kinase kinase 5|MAPK/ERK kinase kinase 5|MEK kinase 5|MEKK 5|apoptosis signal regulating kinase 1|apoptosis signal-regulating kinase 1|mitogen-activated protein kinase kinase kinase 5 protein-coding 1312170 MAP3K6 mitogen-activated protein kinase kinase kinase 6 This gene encodes a member of the serine/threonine protein kinase family. The encoded kinase was identified by its interaction with MAP3K5/ASK, a protein kinase and an activator of c-Jun kinase (MAPK7/JNK) and MAPK14/p38 kinase. This kinase was found to weakly activate MAPK7, but not MAPK1/ERK or MAPK14. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq] 1580863 9875215,19246638,18327563,17210579,12477932,11689443,20562859,19913121,20628086 9064 JE0363 NM_004672,AL663123,CH471059,AB167411,AB208805,AF100318,AI582755,AI658745,BC015914,BC109032,BC129950,BC129951,BF115137,CR623497 NP_004663,CAI14778,CAI14780,CAM12869,EAX07758,BAD12485,BAD92042,AAD05304,AAH15914,AAI09033,AAI29951,AAI29952,JE0363,O95382,Q32MQ5 Hs.194694 ASK2|MAPKKK6|MEKK6|MGC125653|MGC20114 OTTHUMP00000005063|OTTHUMP00000005064|apoptosis signal regulating kinase 2|apoptosis signal-regulating kinase 2|mitogen-activated protein kinase kinase kinase 6 protein-coding 1319782 MAP3K7 mitogen-activated protein kinase kinase kinase 7 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 2293891,2298803,2298758,2293875,2298805 20677014,17081983,16893890,16835226,16527194,16498455,16446357,16301747,16293250,16289117,16280329,16260783,16251197,16186825,16153868,16000313,15917296,15764709,15670770,15590691,15489334,15277532,15082531,14960582,14743216,14702039,14592977,14574404,12874243,12859960,12842894,12804775,12589052,12556533,12547194,12477932,12372426,12296995,12242293,12089335,12048196,11865055,11809792,11585904,11460167,11397816,11259596,11118615,11104763,10921914,10882101,10838074,10807933,10779355,10748100,10195894,10187861,10094049,10022904,9689078,9556573,9480845,9380693,9278437,8638164,8533096,7708055,3031469,18332137,18570872,19112497,14633987,11544529,14670075,12975377,11737269,15782160,9878061,20585109,20682854,20538596,9466656,15075345,18591963,15125833,9162092,9744859,10066798,12609980,19410630,19284290,19232515,19197243,19074436,19047046,19026643,18950863,18758450,18617512,18456659,18326498,18316610,18299321,18206350,17982039,17947700,17828308,17626013,17608743,17559674,17379600,17363973,17325661,17276978,17202147,17173073,17158449,17114179,10224067,14982987,17047224,17449468,17709393,18286207,19419968,19578758,19675569,19687304,19820695,20038579,20061393,20190752,20306291,20379614,20448286,16543241,16543409,20932476,20936779,15276183,19760754,21048031,18838386 2293891,2298803,2298758,2293875,2298805 6885 NM_003188,NM_145332,NM_145331,NG_011966,AL121837,AL121964,CH471051,DQ314875,AB009356,AB009357,NM_145333,AB009358,AF218074,AK055901,AK299268,AK315774,AL050393,AL520975,BC017715,BT019654,BT019655,CR604679 NP_663306,NP_003179,NP_663305,NP_663304,CAI23530,CAI23531,CAI23532,CAI23533,CAI19609,CAI19610,CAI19611,CAI19612,CAI19613,EAW48525,EAW48526,EAW48527,EAW48528,EAW48529,ABC40734,BAA25025,BAA25026,BAA25027,AAF27652,BAG61290,BAG38124,CAB43687,AAH17715,AAV38460,AAV38461,O43318,Q5U0C9,Q5U0D0,Q9NZ70,Q9UG54 Hs.722892 MEKK7|TAK1|TGF1a TGF-beta activated kinase 1|TGF-beta-activated kinase 1|mitogen-activated protein kinase kinase kinase 7|transforming growth factor-beta-activated kinase 1 protein-coding 1314707 MAP3K7IP1 mitogen-activated protein kinase kinase kinase 7 interacting protein 1 The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 20570966,19710015,20448286,8638164,9162092,9744859,10066798,12609980,18456659,18316610,16879102,16648477,15590691,15489334,15324660,14743216,14670075,12829618,12598905,12482967,12477932,12429732,12372426,11847341,11737269,11518704,11323434,10838074,10702308,10591208,10187861,10094049,9878061,9663660,12589052,12975377,10882101,11460167,12048196,19112497,19578758,20538596,15276183,21102463,20805296 10454 NM_006116,CH471095,DQ314876,Z83845,AF425640,AI827837,AK291668,AK308903,AK312456,BC038582,BC050554,EF036484,U49928,NM_153497,AK296314,AK316004 BAH12311,BAH14375,Q59FT7,Q8IZW2,NP_705717,NP_006107,EAW60325,EAW60326,EAW60327,EAW60328,EAW60329,EAW60330,EAW60331,ABC40735,CAB55304,AAN32760,BAF84357,BAG35363,AAH50554,ABO65070,AAC12660,Q15750 Hs.507681 3'-Tab1|MAP3K7IP1|MGC57664|TAB1 TAK1-binding protein 1|TGF-beta-activated kinase 1 and MAP3K7-binding protein 1|TGF-beta-activated kinase 1-binding protein 1|mitogen-activated protein kinase kinase kinase 7 interacting protein 1|mitogen-activated protein kinase kinase kinase 7-interacting protein 1|transforming growth factor beta-activated kinase-binding protein 1 protein-coding 1319911 MAP3K7IP2 mitogen-activated protein kinase kinase kinase 7 interacting protein 2 The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, thus serves as an adaptor linking MAP3K7 and TRAF6. This protein, TAB1, and MAP3K7 also participate in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. [provided by RefSeq] 1580863 20875659,11460167,17047224,19935683,20448286,20493459,17158449,12761501,9162092,9744859,10066798,12609980,17986383,17903294,17626013,17586463,16755651,16527194,16384851,16251197,15590691,15489334,15327770,15220215,14743216,14670075,14633987,14574404,12477932,12242293,12168954,12150997,12048196,11809792,11518704,11259596,10882101,9872452,8889548,8638164,18299187,19112497,18180283,19150425,15829968,17449468,15276183,21035162,21048031 23118 NG_021386,NM_015093,AL031133,AL138727,AL139103,CH471051,DQ314877,AB018276,AF241230,AK025538,AK295750,AK307650,AK315038,AL050180,AL117407,BC035910,BM661637,CR457387 NP_055908,CAI19581,CAI20971,EAW47805,EAW47806,EAW47807,ABC40736,BAA34453,AAF67176,BAG58581,BAG37521,CAB55907,AAH35910,CAG33668,Q9NYJ8,CAI20026 Hs.269775 CHTD2|FLJ21885|KIAA0733|MAP3K7IP2|TAB2 OTTHUMP00000017388|TAB-2|TAK1-binding protein 2|TGF-beta-activated kinase 1 and MAP3K7-binding protein 2|TGF-beta-activated kinase 1-binding protein 2|mitogen-activated protein kinase kinase kinase 7-interacting protein 2 protein-coding 1603527 MAP3K7IP3 mitogen-activated protein kinase kinase kinase 7 interacting protein 3 The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 15276183,15489334,15327770,14766965,14743216,14702039,14670075,14633987,12477932,16189514,17158449,10066798,10882101,12609980 257397 NM_152787,AC108359,AC117405,CH471074,AK096786,AK297274,AY331591,AY331592,AY371491,AY437560,BC032526,BU849692,AL832071,NG_012845 NP_690000,EAW99057,EAW99058,EAW99059,BAG59746,AAQ92938,AAQ92939,AAQ88279,AAR06179,AAH32526,Q5JPK0,Q8N5C8,CAI46137 Hs.188256 MAP3K7IP3|MGC45404|NAP1|TAB3 NF-kappa-B-activating protein 1|NFkB activating protein 1|OTTHUMP00000023112|TAB-3|TAK1-binding protein 3|TGF-beta-activated kinase 1 and MAP3K7-binding protein 3|TGF-beta-activated kinase 1-binding protein 3|mitogen-activated protein kinase kinase kinase 7 interacting protein 3 protein-coding 731488 MAP3K8 mitogen-activated protein kinase kinase kinase 8 This gene was identified by its oncogenic transforming activity in cells. The encoded protein is a member of the serine/threonine protein kinase family. This kinase can activate both the MAP kinase and JNK kinase pathways. This kinase was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This kinase was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. Studies of a similar gene in rat suggested the direct involvement of this kinase in the proteolysis of NF-kappaB1,p105 (NFKB1). This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. [provided by RefSeq] 1580863 15169888,8226782,2072910,19054068,19001140,18984674,18795070,18572386,18518937,18439422,18319612,18187448,17848581,17724252,17398070,17324460,17290588,16806191,16565081,16371247,16087150,15670770,15575964,15489334,15466476,15287022,15188402,15164054,14743216,14517305,12975377,12667451,12477932,12138205,11932422,11278268,10896655,10669751,10072079,9950430,9742107,9603908,9257820,8631303,8479752,1833717,20227498,20603871,16291755,16385451,18029348,19272346,19754427,19804365,19939924,20379614,20487506 1326 NM_005204,AL161651,AY309013,CH471072,AK290320,AK313295,AL547407,BC104833,BC113566,CR542284,CR619928,D14497,Z14138 AAP45053,NP_005195,CAI14224,CAI14225,CAI14226,CAI14227,CAI14228,EAW86004,EAW86005,EAW86006,EAW86007,BAF83009,BAG36102,AAI04834,AAI13567,CAG47079,BAA03387,CAA78512,P41279,Q5T853,Q5T857,Q6FG25,ADR83009 Hs.432453 COT|EST|ESTF|FLJ10486|MEKK8|TPL2|Tpl-2|c-COT Cancer Osaka thyroid oncogene|Ewing sarcoma transformant|OTTHUMP00000019392|OTTHUMP00000019393|cot (cancer Osaka thyroid) oncogene|mitogen-activated protein kinase kinase kinase 8|proto-oncogene c-Cot|proto-oncogene serine/threoine protein kinase|serine/threonine-protein kinase cot|tumor progression locus 2|tumor progression locus-2 protein-coding 1352186 MAP3K9 mitogen-activated protein kinase kinase kinase 9 2293875 8477742,8195146,15610029,15489334,14702039,14504284,12477932,11416147,8536694,19826002,20379614,21107309 2293875 4293 NM_033141,AC004816,CH471061,AF251442,AK091645,AK123430,AK294571,AK299727,AK302849,AY327900,BC033197,BC040716,BC043010,BC111407,BC133706,BX648924 NP_149132,EAW81045,EAW81046,AAG44591,BAG52397,BAG57765,BAG61625,BAG64036,AAQ23054,AAH33197,AAI11408,AAI33707,P80192,Q8NEB1 Hs.445496,Hs.593542 MEKK9|MLK1|PRKE1 mitogen-activated protein kinase kinase kinase 9|mixed lineage kinase 1 (tyr and ser/thr specificity) protein-coding 1343248 MAP4 microtubule-associated protein 4 The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10341201,9398320,9365275,9110174,8631898,8619474,7909279,7876309,7857940,1718985,1477887,16169070,15604093,19834535,10542369,17474147,1905296,19367581,18613117,17081983,16964243,16804917,16565220,16344560,16093351,15840946,15528234,15489334,15302935,15144186,14759258,14702039,14594945,14527689,12890753,12855424,12773533,12477932,12123579,12079337,11683421,10791892,20562859 4134 AA447222,NM_002375,NM_030885,AC124916,AC139667,CH471055,AA206810,NM_001134364,AB209377,AF052156,AF454938,AI078534,AK054577,AK054696,AK091042,AK125245,AK297242,AK299854,AK307606,AL831878,BC008715,BC012794,BC015149,BC019229,BC048200,BC051843,BC067228,BG760540,BI549723,CR598007,CR611651,CR749544,DA114613,DA150735,DC343259,M64571,U19727,AA904866 NP_001127836,NP_002366,NP_112147,EAW64837,EAW64838,EAW64839,EAW64840,EAW64841,EAW64842,EAW64843,EAW64844,EAW64845,EAW64846,EAW64847,EAW64848,Q86Y04,Q8NDS5,ACE87206,ACE86527,BAD92614,AAP97697,BAB70795,BAC86099,BAG59722,BAG61713,CAD38562,AAH08715,AAH12794,AAH15149,AAH19229,AAH48200,AAH51843,AAH67228,CAH18346,AAA59553,AAA67361,P27816,Q05D06,Q6NX68,Q7Z4R3,Q86V26 Hs.517949 DKFZp779A1753|MGC8617 MAP-4|OTTHUMP00000210723|OTTHUMP00000210725|OTTHUMP00000210727|OTTHUMP00000210730|microtubule-associated protein 4 protein-coding 1313504 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 1580863 8824585,11053428,9788432,17474147,19141650,17895239,17712048,17353368,17192257,17024227,16449643,16341093,15743830,15364934,15302935,14563325,12522005,11514608,11487585,11432831,11313918,11279207,11278340,10602493,10567356,10233887,10224067,9891069,9346925,15100220,19706536 11184 NM_001042600,NM_007181,AC005933,AC008649,CH471126,AK303267,AW137524,BX345201,CR590852,CR597185,CR599547,U66464 NP_001036065,NP_009112,EAW56799,EAW56800,EAW56801,EAW56802,BAG64349,AAB97983,Q92918,AAI48360,AAI52995 Hs.95424 HPK1 MAPK/ERK kinase kinase kinase 1|MEK kinase kinase 1|MEKKK 1|hematopoietic progenitor kinase 1|mitogen-activated protein kinase kinase kinase kinase 1 protein-coding 1317839 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. [provided by RefSeq] 1580863 11784851,7477268,7515885,8643544,18029348,17192257,12477932,9712898,9253601,1740341,1570017,19913121,20628086,20332113 5871 NM_004579,AP001462,CH471076,AK298383,AK304495,BC039839,BC047865,BM458161,CR593128,CR609548,CR619340,U07349 NP_004570,EAW74299,EAW74300,EAW74301,EAW74302,BAG60619,BAG65303,AAH47865,AAA20968,Q12851,Q86VU3 Hs.534341 BL44|GCK|RAB8IP B lymphocyte serine/threonine protein kinase|GC kinase|MAPK/ERK kinase kinase kinase 2|MEK kinase kinase 2|MEKKK 2|Rab8 interacting protein|b lymphocyte serine/threonine-protein kinase|germinal center kinase|germinal centre kinase (GC kinase)|mitogen-activated protein kinase kinase kinase kinase 2|rab8-interacting protein protein-coding 732595 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 This gene encodes a member of the Ste20 family of serine/threonine protein kinases. The protein belongs to the subfamily that consists of members, such as germinal center kinase (GCK), that are characterized by an N-terminal catalytic domain and C-terminal regulatory domain. The kinase activity of the encoded protein can be stimulated by UV radiation and tumor necrosis factor-alpha. The protein specifically activates the c-Jun N-terminal kinase (JNK) signaling pathway. Evidence suggests that it functions upstream of mitogen-activated protein kinase kinase kinase 1 (MEKK1). This gene previously was referred to as RAB8-interacting protein-like 1 (RAB8IPL1), but it has been renamed mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3). [provided by RefSeq] 1580863 9275185,17474147,19587239,14702039,12477932,12127567,11384986,9847074,20936779,19913121,20628086,20200978,20227368,20379614 8491 AC007684,NM_003618,AC079615,AF445413,CH471053,AK021553,AK291467,AK299889,AK314487,AK316144,BC060880,BC071579,NG_028007 AAF19240,NP_003609,AAY14734,AAN75849,AAN75850,EAX00346,EAX00347,BAG51037,BAF84156,BAG61735,BAH14515,AAH71579,Q53RV1,Q8IVH8,ACE87796,ACT64392 Hs.655750 GLK|MAPKKKK3|MEKKK 3|RAB8IPL1 MAPK/ERK kinase kinase kinase 3|MEK kinase kinase 3|OTTHUMP00000204180|germinal center kinase-like kinase|germinal center kinase-related protein kinase|mitogen-activated protein kinase kinase kinase kinase 3 protein-coding 1313282 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 9890973,18981001,17227768,17192257,16537454,15345747,15302935,14966141,14702039,12612079,12477932,12387898,12185077,11967148,11369779,11002417,20936779,10805734,10669731,9734811,9135144,14578343,10807933,20857524,19615732,19690174 9448 BU595561,CR606880,NM_145687,NM_004834,AC005035,AC007005,CH471127,AB013385,AB014587,AF096300,AK000380,AK001272,AK025610,AK074592,AK074900,AK130085,AK295610,AK296396,AK307879,AL137755,AY212247,AY834276,BC010909,BC040077,BC045694,BC064691,NM_145686,BC065036 O95819,Q53TW0,Q53TX7,Q53TX8,Q5MD60,Q9NX89,AAI56090,AAI56888,NP_663719,NP_663720,NP_004825,AAY14969,AAY14970,AAY24319,EAX01805,EAX01806,EAX01807,EAX01808,EAX01809,EAX01810,BAA33714,BAA31662,AAD16137,BAA91127,BAH12124,BAH12341,CAB70907,AAO32626,AAV97884 Hs.431550 FLH21957|FLJ10410|FLJ20373|FLJ90111|HGK|KIAA0687|NIK HPK/GCK-like kinase HGK|MAPK/ERK kinase kinase kinase 4|MEK kinase kinase 4|MEKKK 4|OTTHUMP00000207902|OTTHUMP00000207971|OTTHUMP00000207972|OTTHUMP00000207973|OTTHUMP00000207974|hepatocyte progenitor kinase-like/germinal center kinase-like kinase|mitogen-activated protein kinase kinase kinase kinase 4|nck-interacting kinase protein-coding 1346481 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq] 1580863 15146197,9038372,9788432,17474147,17192257,16699725,15489334,14702039,12591926,12477932,10648385,10490605,10477597,9949177,8274451,20936779 11183 CN343360,FB775504,FB775506,NM_198794,NM_006575,AL118556,CH471078,AK124738,AK313612,BC013159,BC036013,CB959746,CB990293,CR618486,U77129,Z25426 CAV30709,CAV30710,NP_942089,NP_006566,EAW65710,EAW65711,EAW65712,EAW65713,BAG54086,BAG36375,AAH36013,AAB48435,CAA80913,Q15448,Q9Y4K4,ABM85112 Hs.130491 GCKR|KHS|KHS1|MAPKKKK5 MAPK/ERK kinase kinase kinase 5|MEK kinase kinase 5|MEKKK 5|germinal center kinase-related|kinase homologous to SPS1/STE20|mitogen-activated protein kinase kinase kinase kinase 5 protein-coding 1606581 MAP6 microtubule-associated protein 6 This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 19165527,16624526,14702039,14692697,14567673,12477932,12231625,11347906,11279055,10516426,9501006,8700896,15604093,20379614 4135 NM_033063,NM_207577,AP001922,AB058781,AK054873,AK096511,AK123340,BC041411,BC063860,BC139780,BC150254 NP_149052,NP_997460,BAB47507,BAC85586,AAH63860,AAI39781,AAI50255,Q6ZWB8,Q96JE9 Hs.585540 FLJ41346|KIAA1878|MTAP6|N-STOP|STOP MAP-6|microtubule-associated protein 6|stable tubule-only polypeptide protein-coding 1602463 MAP6D1 MAP6 domain containing 1 This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq] 16837464,15489334,14702039,12477932 79929 NM_024871,AC131160,CH471052,AA890498,AK022810,BC006434,BI669125 NP_079147,EAW78313,EAW78314,BAB14254,AAH06434,Q9H9H5 Hs.478465,Hs.720790 FLJ12748|MAPO6D1|SL21 21 kDa STOP-like protein|MAP6 domain-containing protein 1|STOP-like protein 21 protein-coding 1318886 MAP7 microtubule-associated protein 7 The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. [provided by RefSeq] 1580863 14574404,14517216,12845596,12755995,12477932,11719555,9989799,7490279,16712791,19913121,20628086,18029348,8408219,18695889,17081983,16964243,16565220,15489334,15218243,16344560 9053 NM_003980,AL023284,AL024508,AL133511,CH471051,AJ242501,AJ242502,AJ420541,AK294461,AK295749,AK296483,AK296556,AK299355,AK307873,AK311114,AK311227,AK311234,AK311236,AK311270,AK312789,AK316062,AK316529,BC025777,BF792432,CB162980,CD557798,X73882,AB073649,AI344295,AL042021,DA329576,DA341792,DC325462,DC332469,NM_001198608,NM_001198609,NM_001198611,NM_001198614,NM_001198615,NM_001198616,NM_001198617,NM_001198618,NM_001198619 NP_003971,CAD92557,EAW47944,EAW47945,EAW47946,EAW47947,CAB88030,CAB88031,BAH11776,BAH12177,BAH12369,BAH12386,BAH13013,BAG35651,BAH14433,BAH14900,AAH25777,CAA52086,Q14244,ABM81872,ABM87811,CAI20475,NP_001185537,NP_001185538,NP_001185540,NP_001185543,NP_001185544,NP_001185545,NP_001185546,NP_001185547,NP_001185548 Hs.486548 E-MAP-115|EMAP115 MAP-7|dJ325F22.2 (microtubule-associated protein 7 (EMAP115, E-MAP-115))|ensconsin|epithelial microtubule-associated protein of 115 kDa protein-coding 1603999 MAP7D1 MAP7 domain containing 1 14702039,12477932,10574461,9921901,9110174,8619474,16169070,16713569,19615732 55700 AC114484,CH471059,AB033013,AF064852,AF218002,AK001212,AK095939,AK096341,AK309966,AL136547,AY007099,BC003083,BC015885,BC027334,BC057293,BC067256,BC082266,BC106053,BC111428,BC128042,NM_018067,CR457254 NP_060537,EAX07381,EAX07382,EAX07383,EAX07384,BAA86501,AAG17244,BAA91557,BAC04654,BAG53265,CAB66482,AAH27334,AAH67256,AAI06054,AAI28043,CAG33535,Q3KQU3,Q6NX58 Hs.356096 FLJ10350|FLJ39022|MGC117315|PARCC1|RPRC1 MAP7 domain-containing protein 1|arginine/proline rich coiled-coil 1|arginine/proline-rich coiled-coil domain-containing protein 1|proline arginine rich coiled coil 1|proline/arginine-rich coiled-coil domain-containing protein 1 protein-coding 1605254 MAP7D2 MAP7 domain containing 2 15772651,16344560,16959974,19413330,14702039,12477932 256714 AW138738,DA409284,DC342615,NG_016371,NM_001168465,NM_001168466,NM_001168467,R45976,NM_152780,AL732366,CH471074,AK027409,AK098768,AK127056,AK294788,AK296319,AK303019,AK316117,BC037165,BC052256,BC089400,BC136379 NP_001161937,NP_001161938,NP_001161939,NP_689993,CAI40547,CAI40549,EAW98971,BAB55093,BAC05407,BAG54432,BAH11884,BAH12313,BAH13881,BAH14488,AAH37165,AAH89400,AAI36380,Q5JPS9,Q96T17 Hs.127951 FLJ14503|MGC104944|RP11-393H10.2 MAP7 domain-containing protein 2 protein-coding 1606231 MAP7D3 MAP7 domain containing 3 14702039,12477932 79649 CH471150,AK022463,AK022711,AK301478,AL832120,AL832475,BC040518,BC064350,DB454674,AW139720,AW206053,NG_016801,NM_001173516,NM_001173517,NM_024597,AL078638 EAW88475,BAB14195,BAG62994,AAH40518,AAH64350,Q8IWC1,NP_001166987,NP_001166988,NP_078873,CAI41063,CAI41064,CAM21578 Hs.446275 FLJ12401|FLJ12649|RP11-535K18.3 MAP7 domain-containing protein 3|OTTHUMP00000024120|OTTHUMP00000195153 protein-coding 1605620 MAP9 microtubule-associated protein 9 ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM] 20615875,17925329,16049101,15815621,14702039,12477932,8889548,20379614 79884 NM_001039580,AC097467,CH471056,AK024730,AK024812,AK301075,AY690636,BC022852,BC056683,BC128540,BC128541,BC146864,CF144347,CR749274 NP_001034669,AAY40981,EAX04898,EAX04899,EAX04900,BAB14978,BAB15017,BAG62681,AAW02921,AAH22852,AAH56683,AAI28541,AAI28542,AAI46865,CAH18129,Q05CN5,Q49MG5,Q6PH77 Hs.61271 ASAP|FLJ21159 OTTHUMP00000196619|OTTHUMP00000220311|aster-associated protein|microtubule-associated protein 9 protein-coding 732502 MAPK1 mitogen-activated protein kinase 1 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq] 1626216,2314939,1582284,1580863,1582283,1582282,1582281,1357969,1302576 20075392,19913121,20335309,20554783,20628086,20628624,20677014,20359813,12774925,12592337,12167619,12032872,10996427,19116345,19097033,19091959,19082454,19082453,19060905,19032445,19020743,19015316,19008312,19001375,18981248,18977218,18959821,18952847,18949384,18848526,18830271,18813840,18802359,18798794,18787043,18782768,18771677,18767165,18760948,18755896,18715846,18711316,18710790,18703508,18694962,18688042,18682391,18667434,18644434,18632853,18617556,18594198,18593910,18587705,18577518,18572386,18570890,18565507,18563362,18559923,18539490,18535203,18516291,18509361,18508903,18508762,18490749,18487214,18477477,18456660,18450423,18434324,18434089,18426913,18426801,18424783,18424438,18423386,18414015,18410277,18405916,18400991,18387958,18378312,18378228,18372245,18365874,18358530,18338817,18332145,18328346,18327407,18311544,18292183,18284542,18280748,18280482,18280112,17351113,17341442,17317777,17317670,17303384,17303382,17297454,17295209,17294242,17284251,17267664,17237147,17215072,17212589,17192257,17149612,17142261,17131384,17128418,17105191,17081983,17068343,17068339,17038630,17035635,17026958,17016429,17015027,16998804,9632734,16286470,16291755,16626623,11520933,10706854,10958679,10051431,18029348,10066798,10878576,9687510,16456541,17322878,19651986,19628422,19610261,19543489,19496172,19475568,19447520,19445727,19433314,19418584,19404844,19385051,19366876,19328461,19249096,19211765,19211028,19206164,19206162,19179479,19164283,19158277,19154323,19152186,19151763,19147767,19147502,16995340,15664191,15655348,15654082,15653554,15632084,15632082,15616583,15616014,15610077,15595556,15592455,15588985,15563472,15557324,15545519,15544353,15542825,15542607,15529758,15489336,15489334,15485655,15379552,15358203,15358166,15356145,15355986,15347670,15322023,15292252,15292226,15253667,15249224,15247297,15247230,15243131,15241487,15225643,15210734,15187168,15184391,15173174,15173068,15155723,15143154,15128788,15128760,15116093,15087455,15081531,15078890,15069082,15068691,15064239,15059773,15041276,15040022,15037631,15033452,15033443,15031289,15030407,15021912,15016620,14997206,14985328,14970219,14970210,14960303,14766231,14764702,14762791,14744867,14742298,14729955,14715628,14714552,14711824,14702039,14701866,14694183,14691575,14676843,14676217,14676207,14672918,14671106,14655753,14654779,14636891,14636584,14634064,14622970,14620918,14602725,14592976,14587029,14575703,14570886,14551213,14551204,14532121,14511403,14500714,12975377,12972619,12972603,12963735,12960100,12957654,12947325,12947314,12943720,12937895,12937136,12917419,12894225,12883725,12871860,12840032,12837293,12832467,12832284,12826588,12821662,12810719,12801888,12794156,12794087,12794004,12792650,18271757,18270969,18266953,18263590,18256791,18245228,18245089,18224451,18212269,18210145,18189318,18187448,18182379,18178562,18171912,18165705,18165231,18164958,18087676,18086662,18083711,18079197,18079194,18065201,18063683,18055485,18036343,18034864,18026817,18022816,18006496,18003605,17991743,17991734,17974561,17961162,17942603,17942397,17938255,17936667,17933561,17932312,17921324,17889855,17889508,17884340,17883418,17881458,17879163,17850776,17825787,17728396,17701086,17697861,17695723,17693641,17689925,17686614,17667937,17662006,17658605,17652083,17652082,17646929,17631144,17624368,17623675,17620336,17615382,17602748,17583675,17582224,17581316,17581212,17577579,17575262,17550972,17543571,17531530,17526808,17525735,17522999,17519976,17513610,17512500,17510316,17504381,17502994,17496918,17486076,17469127,17464174,17458890,17443665,17427197,17410437,17406055,17397260,17388789,17382881,16980607,16954218,16941494,16926156,16912315,16897432,16865246,16848763,16820947,16820791,18276593,16820412,16814421,16813525,16796978,16794828,16786433,16763222,16753021,16735500,16723503,16705745,16687572,16670094,16644735,16635502,16624816,16617096,16611738,16581800,16574793,16569214,16556602,16538383,16492667,16414009,16406609,16395709,16373414,16368546,16332685,16321971,16288922,16287813,16283431,16280323,16278684,16278291,16273204,16253958,16242327,16242072,16239230,16209712,16198352,16198290,16156666,16153436,16149052,16148006,16131083,16094384,16081426,16051177,16047735,16045329,16027724,15985432,15967991,15967790,15952796,15951569,15928662,15928037,15923189,15897893,15890751,15882975,15880942,15861134,15851480,15851026,15814736,15809051,15782123,15778391,15778365,15777705,15757891,15746430,15739119,15735702,15728359,15728253,15721486,15721302,15713638,15671028,19835659,20087064,20358251,20453075,12763138,12759139,12754301,12727980,12697810,12690113,12690112,12682854,12676937,12665801,12665513,12665511,12663671,12643788,12637525,12637502,12637339,12624094,12618431,12618428,12611773,12606501,12603851,12594221,12592382,12030372,12006497,11994045,11971971,11961297,11960991,11952164,11943771,11937531,11930938,11923300,11914583,11904305,11896055,11891214,11884401,11883936,11878930,11876253,11867630,11866540,11866440,11861509,11840343,11840291,11823456,11805112,11805108,11788583,11786537,11781324,11776327,11773377,11756441,11748628,11744690,11741894,11741541,11702783,11606045,11583024,11581251,11579140,11549292,11493009,11489891,11481231,11416124,11409876,11409852,11408587,11352917,11350938,11350735,11279280,11278799,11278335,11266467,11260070,11226259,11226163,11205744,11181841,11134045,11114188,11044099,11013076,12354773,11726657,9453574,12734410,11958689,11153078,10748182,16920714,18519678,12897141,10958792,1347949,11279118,15210690,9207092,7957875,11279232,10988299,10801826,10969079,11403955,11585926,11157753,7737129,11500490,11346645,12058067,11409918,15094067,10318905,10993892,10982368,10942774,10915800,10910078,10866661,10799874,10780709,10779345,10762698,10757792,10737616,10733581,10706702,10702794,10692442,10660621,10635328,10627507,10617468,10567572,10521505,10509564,10490027,10446219,10419510,10405182,10347142,10330152,10230405,10224087,10206983,10197981,10194762,10187842,10074203,9915826,9872331,9857190,9832145,9792705,9788880,9771888,9725910,9649500,9628874,9621077,9604935,8157000,8083223,7876160,7816602,7777512,7768935,7569900,7566346,7535768,2032290,1712480,1648701,1540184,1378617,1330687,1319925,15603708,9045910,17158886,16621960,12775419,12239168,12089333,10581001,10027715,15689238,12714584,9564043,17182689,15343382,15459189,15371627,11532249,11504923,9658081,9403476,10388555,16741963,16436505,16395283,9592082,9565682,9558095,9535927,9535909,9535905,9528769,9440696,9430688,9405468,9388255,9343414,9335504,9325171,9223324,9211903,9199504,9199329,9155017,9092573,9030579,9029147,9013873,8994038,8960373,8939914,8900182,8816480,8806671,8794306,8639570,8631994,8626571,8626561,8618896,8607977,8586671,8552640,8506364,8407983,8389479,8386592,8384717,8290275,8248197,8221888,8208531,15699045,17081988,20623670,20665674,20693286,21088106,20226009,20406097,20538278,20637859,20671123,20736304,20811717,19729990,20038816,20386571,20460375,20463008,20463007,20490331,20541731,20729213,20956553,18787400,20189953,20519144,12576423,12576315,12562867,12556561,12556484,12555071,12540563,12540369,12538595,12538349,12536241,12531514,12529294,12508271,12505790,12491158,12482669,12478298,12477932,12473660,12464620,12460991,12456688,12450322,12446729,12444202,12441075,12438317,12435397,12419216,12408764,12393542,12391149,12388423,12387894,12379481,12362243,12356755,12356731,12351702,12239215,12226093,12220502,12218048,12206715,12200131,12183542,12177807,12175859,12161424,12151396,12151316,12149432,12149431,12149268,12140374,12121974,12105188,12095152,12095140,12093745,12091386,12082107,12082091,12082090,12081893,12081892,12079429,12077112,12076252,12058028,12054624,12050114,12048211,12039864,12038794,20501673,20225236,20415541,20493910,8381049,20664595,16582626,20671117,20936779,20174585,20307589,20616308,10712923,11431474,11988087,12760422,14968112,15342917,15380617,17255949,17290218,17327227,17991320,18069631,18095097,18930812,19184415,19199380,19319478,19363666,19364816,19407222,19414528,19457236,19477272,19477952,19484147,19494114,19502238,19502590,19505457,19524666,19527712,19531493,19555684,19575782,19588500,19589780,19597469,19608729,19619936,19631649,19632304,19633425,19643177,19649722,19650110,19656390,19672773,19676104,19684019,19686046,19686845,19697705,19713532,19720761,19723095,19730683,19751964,19755487,19764561,19776005,19782465,19802003,19805545,19808666,19815047,19816090,19816934,19816936,19819966,19822148,19823867,19833733,19835973,19855431,19858308,19861416,19874574,19879846,19880579,19901160,19910580,19917255,19917706,19919532,19930715,19941816,19956840,20009539,20056178,20072156,20072648,20074451,20074637,20074640,20086178,20093341,20097574,20102637,20103886,20118622,20123980,20155832,20167130,20179103,20190820,20201065,20232314,20232315,20351270,20385094,20432452,20468064,20483734,20508983,8388392,9069267,9858547,9973222,15276183,20203690,20811691,20889506 1626216,2314939,1582284,1582283,1582282,1582281,1357969,1302576 5594 NM_002745,NM_138957,AP000553,AP000554,AP000555,CH471095,DQ508104,AI004470,AK055080,AK057143,AK090869,AK295188,AK307615,BC017832,BC099905,CR621660,DQ399292,EF565108,Z11694,Z11695,NG_023054,EU332852,HC462822 NP_002736,NP_620407,EAW59479,EAW59480,EAW59481,EAW59482,ABF47102,BAG58192,AAH17832,AAH99905,ABD60303,CAA77752,CAA77753,P28482,Q1HBJ4,Q499G7,ABW03774,ACE87116,ACE86441,ABY87541,CBK51146 Hs.431850 ERK|ERK2|ERT1|MAPK2|P42MAPK|PRKM1|PRKM2|p38|p40|p41|p41mapk ERK-2|MAP kinase 1|MAP kinase 2|MAP kinase isoform p42|MAPK 2|extracellular signal-regulated kinase 2|mitogen activated protein kinase 1|mitogen-activated protein kinase 1|mitogen-activated protein kinase 2|p42-MAPK|protein tyrosine kinase ERK2 protein-coding 733441 MAPK10 mitogen-activated protein kinase 10 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This protein is a neuronal-specific form of c-Jun N-terminal kinases (JNKs). Through its phosphorylation and nuclear localization, this kinase plays regulatory roles in the signaling pathways during neuronal apoptosis. Beta-arrestin 2, a receptor-regulated MAP kinase scaffold protein, is found to interact with, and stimulate the phosphorylation of this kinase by MAP kinase kinase 4 (MKK4). Cyclin-dependent kianse 5 can phosphorylate, and inhibit the activity of this kinase, which may be important in preventing neuronal apoptosis. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 2298567,2298561,2293875,1580863,1300048 9045910,16481105,12960231,12857973,12239168,11698270,11468147,12714584,15246824,12775419,12089333,11504923,8654373,7826642,19001375,18408005,17680991,16737965,16611996,16249883,16169070,15693750,15489334,14702039,12818176,12477932,12436199,12189133,12167088,11823425,11718727,11359773,11356842,11322657,11259409,11231586,11185509,11090355,10715136,10629060,10523642,10471813,9847074,9739089,9393873,9373149,9349820,8125298,1922387,15603708,9403476,10756100,16007099,10878576,16344560,17670986,19879840,20056178,20936779,15276183,20525557 2298567,2298561,2293875 5602 NM_138980,NM_138982,NM_138981,AC096953,AC104059,AC104827,AC108054,CH471057,AK022161,AK057723,AK091104,AK124791,AK225974,AK294125,AK307129,BC022492,BC035057,NM_002753,BC051731,BC065516,BI549234,U07620,U34819,U34820,DA192997,NG_013325,CS693282,CS693286,CS693290 NP_002744,NP_620446,NP_620448,NP_620447,EAX05962,EAX05963,BAG51956,BAG52284,BAG54096,BAH11677,AAH35057,AAH51731,AAH65516,AAC50101,AAC50604,AAC50605,P53779,Q499Y8,CAP12256,CAP12257,CAP12259 Hs.125503,Hs.723352 FLJ12099|FLJ33785|JNK3|JNK3A|MGC50974|PRKM10|p493F12|p54bSAPK JNK3 alpha protein kinase|MAP kinase 10|MAP kinase p49 3F12|MAPK 10|OTTHUMP00000161181|OTTHUMP00000161183|OTTHUMP00000218718|c-Jun N-terminal kinase 3|mitogen activated protein kinase 10|mitogen-activated protein kinase 10|stress activated protein kinase beta|stress-activated protein kinase JNK3 protein-coding 1319634 MAPK11 mitogen-activated protein kinase 11 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. This kinase is most closely related to p38 MAP kinase, both of which can be activated by proinflammatory cytokines and environmental stress. This kinase is activated through its phosphorylation by MAP kinase kinases (MKKs), preferably by MKK6. Transcription factor ATF2/CREB2 has been shown to be a substrate of this kinase. [provided by RefSeq] 2293891,1580863 19913121,20628086,10878576,17380123,19706373,20056178,20162623,20188673,9297626,15276183,15923648,8663524,17254968,8846784,9687510,11520933,19082897,18950637,16643845,15728454,15708845,15489334,15461802,15356147,15326477,15304344,15304097,15273249,15249224,15048855,14724572,14688370,14680475,14651992,14557269,14522966,12586546,12510156,12477932,12384504,12171600,12060661,11847341,11579095,11495898,11359773,10820433,10591208,9628874,9430721,9235954,9218798,9207191,12239168,20053787,20378550 2293891 5600 NM_002751,AL022328,CH471138,DQ279722,EU332851,AF001008,AF001174,AF031135,AK291845,AK299745,AK308969,AK309046,BC027933,BM857051,BX361670,CR456514,CR592517,CR600695,CR605909,CR615085,CR624704,U53442,U92268,Y14440 NP_002742,EAW73524,EAW73525,EAW73526,ABB72677,ABY87540,AAC51250,AAC51373,AAC12714,BAF84534,BAH13116,AAH27933,CAG30400,AAB05036,AAB66313,CAA74792,Q15759,CAK54545,CAK54844,ABM82654,ABM85831 Hs.57732 P38B|P38BETA2|PRKM11|SAPK2|SAPK2B|p38-2|p38Beta MAP kinase 11|MAP kinase p38 beta|MAPK 11|OTTHUMP00000196655|mitogen-activated protein kinase 11|mitogen-activated protein kinase p38 beta|mitogen-activated protein kinase p38-2|stress-activated protein kinase 2|stress-activated protein kinase-2|stress-activated protein kinase-2b protein-coding 731716 MAPK12 mitogen-activated protein kinase 12 Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq] 2293891,1580863,1300048 19913121,20628086,9628874,9199504,9169156,9019171,8920915,12239168,9564043,20804750,10848581,10508788,15158451,8633070,11520933,9297626,18559936,17724032,17088247,17081983,15489334,15461802,15342622,15284239,14702039,14592936,12915405,12536241,12477932,12171600,12167088,11991731,11741894,11062068,11062067,10591208,10567720,10212242,11104762,11181841,12226093,12387894,12761180,1330687,16637659,19251701,20332238,7566346,9353289,9565682,9735171,9771888,9832145,20605917,15923648 2293891 6300 NM_002969,AL022328,CH471138,AK098058,AK123665,AK289770,AK294422,AK307421,AK307724,AK308768,BC015741,BX640648,CR456515,CR591936,CR595847,CR597471,CR597558,CR600878,CR601459,CR603106,CR603767,CR604558,CR614110,CR617313,CR620424,U66243,X79483,Y10487 NP_002960,EAW73521,EAW73522,BAG53571,BAG53932,BAF82459,BAH11760,AAH15741,CAE45794,CAG30401,AAB40118,CAA55984,CAA71511,P53778,Q6IC53,Q6N076,CAK54546,CAK54845,ABM83713,ABM87033 Hs.432642 ERK3|ERK6|P38GAMMA|PRKM12|SAPK-3|SAPK3 ERK-6|MAP kinase 12|MAP kinase p38 gamma|MAPK 12|OTTHUMP00000196671|extracellular signal-regulated kinase 6|mitogen-activated protein kinase 12|mitogen-activated protein kinase 3|mitogen-activated protein kinase p38 gamma|stress-activated protein kinase 3 protein-coding 737240 MAPK13 mitogen-activated protein kinase 13 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is closely related to p38 MAP kinase, both of which can be activated by proinflammatory cytokines and cellular stress. MAP kinase kinases 3, and 6 can phosphorylate and activate this kinase. Transcription factor ATF2, and microtubule dynamics regulator stathmin have been shown to be the substrates of this kinase. [provided by RefSeq] 2293891,1580863,1300048 9207191,8125298,12239168,11378392,20805296,20804750,19816939,20056178,20090411,9297626,9218798,19135240,12244047,11520933,18559936,18367666,16644870,15489334,15340077,15231748,14574404,12810719,12482858,12477932,12171600,12080077,11500363,10727080,10201954,10066767,9841871,9731215,9628874,9374491,9373149,9295308,19913121,20628086,20478268 2293891 5603 CH471081,Z95152,AB209586,AB451221,AB451344,AF004709,AF015256,AF092535,AF100546,AK222922,AK308018,BC000433,BC001641,BC004428,BC085196,BM921729,BT007221,CR536490,NM_002754,CR541687,CR595896,CR603684,U93232,Y10488 NP_002745,EAX03874,EAX03875,EAX03876,CAB08438,CAI19689,CAI19690,BAD92823,BAG70035,BAG70158,AAC51374,AAC51758,AAD23377,AAF36772,BAD96642,AAH00433,AAH01641,AAH04428,AAH85196,AAP35885,CAG38729,CAG46488,AAB87639,CAA71512,O15264,Q53GK9,Q59F75,Q5R3E4,Q5R3E6,Q5U4A5,Q6FHR4,ABM82298,ABM85477,ACE87506,ACE86820 Hs.178695 MGC99536|PRKM13|SAPK4|p38delta MAP kinase 13|MAP kinase p38 delta|MAPK 13|mitogen activated protein kinase 13|mitogen-activated protein kinase 13|mitogen-activated protein kinase p38 delta|stress-activated protein kinase 4 protein-coding 619564 MAPK14 mitogen-activated protein kinase 14 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 1580544,2293891,2311567,2311566,2311565,1302548,1580863,1300048,1302590,1302580 17229385,18758450,9207092,11279118,12054652,11278799,12819782,11279232,14563843,12963847,15692053,9235954,12829618,20460375,20462950,20631726,20660302,20957493,20396861,20430109,20562859,20573801,20682780,20702616,20936779,20223287,20514473,20519498,19267882,20213747,20564821,15276183,15923648,20339548,20552237,19915152,20051382,20053787,20473571,20647313,18632968,15717263,10706854,7997261,9792677,12761180,16189514,16636664,16751104,17255097,8846784,9687510,11520933,10912793,10838079,19543489,19539632,19520742,19501598,19497411,19453261,19433314,19418584,19371952,19365146,19362680,19351724,19324082,19289404,19286308,19280689,19270308,19268365,19265690,19254690,19251701,19231233,19214751,19192109,19164129,19152916,19152512,19138820,19129540,19124752,19112161,19091131,19088256,19074832,19074436,19073744,19047046,19015318,19010591,18987975,18986328,18954908,18953413,18949619,18949386,18949384,18922473,18854640,18830681,18827744,18813787,18806262,18799583,18776133,18757346,18728014,18727093,18725314,18723442,18718914,18703508,18695917,18682391,18678875,18675993,18667601,18660489,18642443,16964394,16951426,16935849,16927023,16924420,16924234,16912047,16899715,16869889,16864945,16861915,16843435,16820791,16814421,16790501,16769768,16720051,16709866,16699726,16699462,16697418,16683917,16648633,16648477,16645187,16627995,16613612,16581800,16554354,16538384,16532349,16516911,16478922,16469115,16467496,16446363,16410316,16410245,16380078,16351573,16344560,16344056,16342939,16338464,16308312,16278378,16257181,16256948,16256071,16251188,16242072,16214108,16197369,16164755,16153436,16153249,16139274,16138080,16135815,16133687,16123320,16099944,16098034,16027724,16027723,16014723,15964514,15950779,15946948,15919053,15917247,15901830,15894558,15862947,15851480,15849811,15845648,15843433,15833736,15817653,15797859,15791651,15790570,15784503,8798479,8695800,8650547,8626699,8622669,8548291,8530093,8274451,8083223,7923354,7914033,7839144,7750576,7716521,7696354,7592979,7535770,7479834,1088347,15642743,15603708,16111829,16897667,17158886,17182689,12775419,12089333,16841089,15778365,16081599,15972662,14660488,12239168,11698270,11468147,12824191,18625709,18613029,18607537,18586681,18571150,18563362,18559936,18541673,18541226,18502748,18495129,18487954,18487214,18482988,18478240,18477563,18460190,18451303,18439424,18424756,18424721,18419748,18411303,18405916,18401529,18395970,18389508,18372245,18367666,18358530,18353785,18325348,18314537,18296636,18288130,18288129,18276761,18276609,18275043,18253836,18252806,18247374,18246004,18224252,18223258,18218858,18211888,18177491,18165231,18095520,18093851,18089732,18087676,18086809,18065201,18059487,18055026,18054783,18047584,18036649,18028450,18022596,17996717,17991740,17982102,17979814,17974568,17967130,17959827,17959643,17929017,17928890,17927969,17921324,17906919,17893873,17888403,17879955,17727817,17724032,17720811,17719653,17698513,17689131,17675521,17652082,17628663,17624368,17616668,17613714,17612563,17611702,17604950,17601799,17599408,17597823,17585337,17584736,17583675,17570131,17548358,17548351,17543571,17531530,17524358,17519236,17468755,17464174,17453826,17446930,17443309,17442041,17438131,17406030,17373649,17347580,17341442,17334397,17332506,17316568,17307333,17303384,17303382,17303142,17284589,17277157,17255949,17244678,17241234,17234706,17219054,17207971,17202865,17196171,17192257,17188240,17142767,17141198,17126905,17107667,17088247,17085432,17081983,17059827,17055984,17054722,17050539,17035228,17030510,17030506,17028194,17012370,17000004,16973972,12403788,12391307,12384504,12370831,12324467,12296996,12232043,12225289,12200131,12183063,12171600,12170268,12164931,12138194,12126643,12110590,12105188,12085235,12071847,12067303,12051955,12009331,11997522,11994493,11994045,11896401,11866441,11852102,11848686,11847341,11792706,11788789,11788583,11781324,11777913,11773065,11756422,11741533,11691836,11604491,11602244,11551945,11551930,11495898,11489891,11416124,11390380,11387337,11377386,11359773,11346645,11344273,11333986,11259586,11226159,11157753,11042694,11042204,10980603,10978317,10961885,10943842,10942774,10910078,10884347,10857861,10849446,10806207,10805738,10779345,10747897,10727080,10644717,10597297,10581258,10559944,10557092,10415025,10391943,10364159,10348343,10330143,10206983,10085140,9889198,9878398,9858528,9788880,9768359,9753748,9753691,9628874,9554853,9465032,9405468,9295308,9278512,9211903,9155018,9130707,9095200,9092573,9069290,8917518,8910361,15755725,15753227,15737736,15737629,15728454,15708845,15677464,15668322,15665518,15650392,15634764,15632082,15629715,15625302,15592496,15592455,15578697,15569672,15567067,15550393,15542843,15541600,15527495,15516490,15514847,15489375,15489334,15388348,15383283,15375157,15345584,15322009,15319438,15315972,15310753,15304486,15304097,15292225,15292176,15284239,15273249,15257094,15256218,15246972,15245437,15232685,15170913,15133024,15132952,14989597,14970175,14715645,14714552,14648593,14592977,14586399,14578350,14574404,14552880,14512875,13679851,12933809,12897141,12882963,12855667,12810082,12784337,12702497,12698197,12697810,12684028,12665801,12665511,12663671,12654092,12631076,12606502,12595530,12589052,12581156,12519482,12509443,12505871,12478662,12477932,12473116,12429732,18953958,19913121,20393480,20463961,20505830,20588308,20628086,20677014,20799279,20803566,20345761,20345980,20378550,20525893,20558744,16949365,19776015,20729202,20734064,20805296,20825716,21048031,18231754,20736797,20432471,20434230,10346818,10878576,11988087,12748288,15688026,16169070,17222367,17380123,18814027,19196344,19209848,19242520,19319478,19343039,19364817,19389701,19407223,19430204,19448675,19467570,19468799,19482949,19506078,19520919,19528229,19540572,19565356,19570915,19571577,19584293,19608729,19628771,19631608,19633425,19638579,19648294,19656390,19676104,19676105,19692652,19698994,19706373,19706521,19713744,19723092,19723095,19726550,19727814,19748889,19801633,19822084,19828631,19837302,19851890,19862774,19874574,19885551,19885574,19885589,19887452,19893453,19893488,19901160,19906316,19913910,19917608,19920075,19940360,19948725,19950901,19996096,20043086,20056178,20066900,20069553,20070945,20072629,20085806,20086174,20093368,20155832,20162623,20169663,20171194,20181932,20188673,20212154,20231411,20299663,20307495,20347265,20379614,20483734,20511681,8910365,9297626,9468497,9808624,20060003,20619728,20729213 1580544,2293891,2311567,2311566,2311565,1302548,1302590,1302580 1432 NM_139012,NM_139014,NM_001315,NM_139013,CH471081,EU332860,U19775,AB074150,AF100544,AK291709,AK303414,BC000092,BC031574,BT006933,CR536505,CR598726,CR612713,DA438432,FJ032367,FJ032368,L35263,L35264,Z25432 Q16539,NP_620581,NP_620583,NP_001306,NP_620582,EAX03867,EAX03868,EAX03869,EAX03870,EAX03871,EAX03872,EAX03873,ABY87549,AAC50329,BAB85654,AAF36770,BAF84398,BAG64467,AAH00092,AAH31574,AAP35579,CAG38743,ACI00233,ACI00234,AAA57455,AAA57456,CAA80919,Q15454 Hs.722031,Hs.485233,Hs.719314 CSBP1|CSBP2|CSPB1|EXIP|Mxi2|PRKM14|PRKM15|RK|SAPK2A|p38|p38ALPHA CSAID-binding protein|CSBP|Csaids binding protein|MAP kinase 14|MAP kinase Mxi2|MAP kinase p38 alpha|MAPK 14|MAX-interacting protein 2|OTTHUMP00000216563|OTTHUMP00000216566|cytokine suppressive anti-inflammatory drug binding protein|cytokine suppressive anti-inflammatory drug-binding protein|mitogen-activated protein kinase 14|mitogen-activated protein kinase p38 alpha|p38 MAP kinase|p38 mitogen activated protein kinase|p38alpha Exip|stress-activated protein kinase 2A protein-coding 1604966 MAPK15 mitogen-activated protein kinase 15 11875070,18029348,19166846,16624805,16484222,16336213,15489334,15342556,12477932,12239168,9880541,20395206,20733054 225689 NM_139021,AC105219,CH471162,AY065978,AY994058,BC028034,BP357805 NP_620590,EAW82203,EAW82204,EAW82205,AAL40897,AAY44299,AAH28034,Q8TD08,ABM82399,ABM85587 Hs.493169 ERK7|ERK8 ERK-7|ERK-8|MAP kinase 15|MAPK 15|extracellular regulated kinase 8 delta|extracellular signal regulated kinase 8|extracellular signal-regulated kinase 7|extracellular signal-regulated kinase 8|mitogen-activated protein kinase 15 protein-coding 1322925 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1-like 12011110,8619474,17081983,16189514,15489334,14702039,12508121,12477932,17207965 93487 NM_144578,AL139316,CH471061,AK025580,AK054650,AK315501,AL834285,BC015621,CR595805,CR600100,CR605386,CR610161,CR621130,CR623367,U90909 NP_653179,EAW80656,EAW80657,BAG37885,CAD38959,AAH15621,Q8NDC0,ADQ33151 Hs.594338,Hs.619374 C14orf32|MGC23138|MISS|c14_5346 MAPK-interacting and spindle-stabilizing protein|MAPK-interacting and spindle-stabilizing protein-like|mitogen activated protein kinase 1 interacting protein 1-like|mitogen-activated protein kinase 1-interacting protein 1-like protein-coding 619570 MAPK3 mitogen-activated protein kinase 3 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq] 1626216,1580863,1357969,737801 20075392,20335309,20359813,16253958,16242072,16239230,16209712,16156742,16149052,16081426,16050810,16047735,15985432,15967991,15951569,15923189,15919053,15890751,15880942,15879168,15814736,15809051,15784503,15757891,15746430,15739119,15735702,15728253,15721302,15671028,15655348,15653554,15642734,15616583,19008312,18986987,18983981,18981248,18949384,18854640,18853184,18830271,18787043,18771677,18755896,18715846,18711316,18710790,18703508,18694962,18691388,18688042,18682391,18667434,18660489,18644434,18632853,18617556,18593910,18577518,18572386,18570890,18563362,18559923,18535203,18516291,18508903,18487214,18477477,18463290,18448488,18434324,18434089,18433299,18426913,18426801,18424783,18424438,18423386,18414015,18410277,18405916,18398416,18387958,18378312,18372245,18365874,18358530,18332145,18328346,18327407,18292183,18288130,18284542,18280748,18280482,18280112,18276593,18271757,18270969,18266953,18263590,18245228,18245089,18224451,18212269,18210145,18189318,18187448,18174382,18166657,18165705,18164958,18087676,18086662,18086557,18079197,18079194,18070930,18065201,18063683,18055485,18036343,18034864,18022816,18006496,17991743,17967787,19015316,17942603,17942397,17938255,17936667,17932312,17921324,17889855,17889508,17884340,17881458,17879163,17850776,17825787,17728396,17695723,17686614,17662006,17652082,17644078,17622743,17620336,17615382,17583675,17582224,17581212,17575262,17565009,17543571,17526808,17525735,17522999,17519976,17513610,17510316,17504381,17496918,17478078,17464174,17458890,17453826,17443665,17427197,17410437,17406055,17388789,17382881,17351113,17341442,17317670,17311928,17303384,17303382,17297454,17294242,17274723,17273789,17267664,17237423,17237147,17215072,17212589,17209045,17192257,17149612,17142261,17131384,17081983,17068343,17068339,17035635,17016429,16998804,16995340,16990258,16954218,16941494,16926156,16849642,16844778,16820791,16820412,16814421,16813525,16796978,16794828,16735500,16705745,16699726,16687572,16670094,16644735,16624816,16617096,16574793,16569214,16556602,16538383,16533948,16515552,16492667,16414009,16406609,16373414,16368546,16344560,16332685,16321971,16317051,16291755,16287813,16280323,16278684,16278291,16273281,11741541,7687743,15950189,16626623,11520933,18029348,7739560,9687510,16456541,17322878,19651986,19610261,19543489,19453261,19447520,19445727,19428994,19418584,19404844,19366876,19328461,19298651,19266047,19242545,19206162,19164283,19164129,19160418,19158277,19154323,19153083,19147767,19147502,19116345,19097033,19091959,19082454,19060905,19035465,19032445,19020743,19835659,20087064,20358251,20453075,20501673,12594221,15210690,10597297,15184391,12975377,11403955,15861134,11585926,15782123,9130707,9020136,15469820,12049732,10431817,9235954,15133517,20406097,20538278,20637859,19776015,20726858,20736304,20811717,20671123,19729990,20038816,20386571,20460375,20463008,20463007,20490331,20729213,16580177,20493910,20693286,19777442,15563472,15545519,15542825,15509801,15489334,15471881,15364926,15355986,15347670,15336571,15322023,15321994,15292176,15256218,15249224,15247297,15247230,15243131,15210734,15173068,15143154,15128760,15113754,15078890,15069082,15068691,15064239,15059773,15040022,15030407,15016620,14985328,14960303,14744867,14714552,14711824,14702039,14701866,14676217,14671106,14651992,14634064,14622970,14602725,14587029,14575703,14532121,14515181,12960100,12947325,12943720,12937136,12832467,12832284,12821662,12810719,12794156,12792650,12727216,12697810,12690112,12689928,12682854,12676937,12663671,12643788,12637525,12637339,12606501,12603851,12562867,12555071,12540563,12538595,12538349,12531514,12529294,12491158,12482669,12477932,12473660,12456688,12446729,12441075,12408764,12362243,12218048,12200131,12183542,12167619,12095152,12082091,12082090,12081892,12032872,12030372,11986622,11961297,11960991,11952164,11937531,11930938,11923300,11891214,11884401,11866540,11866440,11792123,11776327,11773377,11741977,11702783,11682603,11583024,11579140,11409918,11409852,11278799,11260070,11134045,11131153,11114188,11044099,10982368,10958792,10912793,10799874,10780709,10748187,10648599,10635328,10627507,10574913,10570282,10559944,10551817,10509564,10402467,10224087,10206983,10074203,9857190,9792705,9792677,9733512,9628824,9621077,9558095,9535927,9325171,9223324,9155018,8939914,8806671,8794306,8639570,8632909,8626767,8626571,8552640,8290275,8226933,8208531,8152805,7836374,7535768,1922387,1540184,1347949,1319925,15603708,16621960,17182689,12775419,12239168,12089333,10581001,10027715,15689238,9564043,15371627,11532249,11504923,9658081,9403476,16741963,16436505,16395283,16920714,10702794,9006895,11279232,12356731,12121974,11551945,11387337,10869359,20225236,20189953,20519144,18787400,20664595,16582626,20671117,20174585,20307589,20512084,20566577,20616308,10066421,10187842,10194762,10339476,10347142,10415025,10419510,10446219,10521505,10617468,10677502,10712923,10725920,10727525,10915800,11027280,11135364,11205744,11226163,11287604,11342557,11350938,11581251,11781324,11784715,11788583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1626216,1357969,737801 5595 NM_001040056,NM_002746,AC012645,AJ222708,CH471238,EU332853,AK091009,AK307995,AY033607,AY033608,BC000205,BC013992,BX537897,CR595737,CR596064,CR597147,CR600245,CR603463,CR606522,CR607536,CR620058,CR621455,CR621688,CR621977,DA351318,DQ399291,M84490,X60188,Z11696,NM_001109891,HC462820 NP_001103361,NP_001035145,NP_002737,EAW79912,EAW79913,EAW79914,EAW79915,EAW79916,EAW79917,ABY87542,BAG52261,AAK52329,AAK52330,AAH00205,AAH13992,CAD97888,ABD60302,AAA36142,CAA42744,CAA77754,P27361,Q7Z3H5,Q8NHX0,Q8NHX1,Q9BWJ1,ABM84366,ABM87777,CBK51145 Hs.861 ERK1|HS44KDAP|HUMKER1A|MGC20180|P44ERK1|P44MAPK|PRKM3 ERK-1|ERT2|MAP kinase 1|MAP kinase 3|MAP kinase isoform p44|MAPK 1|MAPK 3|OTTHUMP00000174538|OTTHUMP00000174541|extracellular signal-regulated kinase 1|extracellular signal-related kinase 1|insulin-stimulated MAP2 kinase|microtubule-associated protein 2 kinase|mitogen-activated protein kinase 1|mitogen-activated protein kinase 3|p44-ERK1|p44-MAPK protein-coding 736964 MAPK4 mitogen-activated protein kinase 4 Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus where it phosphorylates nuclear targets. [provided by RefSeq] 1580863 7969157,18463290,18235225,18070930,16973613,16360641,12477932,9069255,8607977,8290275,7601337,1319925,12239168,12008033,18720373,19473979 5596 AC012433,AC090395,AC090638,CH471096,AI088913,AK293818,AK295058,AK303601,BC040493,BC050299,BC117216,BC143769,X59727,NM_002747 EAW62976,EAW62977,BAG57223,BAG58107,BAG64616,AAH50299,AAI17217,CAA42411,P31152,Q0VG04,NP_002738,ADR83381 Hs.433728 ERK3|Erk4|PRKM4|p63MAPK ERK-4|Erk3-related|MAP kinase 4|MAP kinase isoform p63|MAPK 4|extracellular signal-regulated kinase 4|mitogen activated protein kinase 4|mitogen-activated protein kinase 4|p63-MAPK protein-coding 733646 MAPK6 mitogen-activated protein kinase 6 The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq] 1580863 20936779,2032290,16964379,16344560,15489334,15226418,15172640,12915405,12808096,12477932,11741894,11148204,8875998,8626698,8621539,7969157,12239168,18720373 5597 NM_002748,AC023906,AC090970,CH471082,AB451301,AF420474,AK313633,BC035492,CR749401,DA109756,L77964,X80692 NP_002739,EAW77434,BAG70115,AAL17605,BAG36392,AAH35492,CAH18246,AAA98769,CAA56709,Q16659,ABM82544,ABM85736 Hs.411847 DKFZp686F03189|ERK3|HsT17250|PRKM6|p97MAPK ERK-3|MAP kinase 6|MAP kinase isoform p97|MAPK 6|extracellular signal-regulated kinase 3|extracellular signal-regulated kinase, p97|mitogen-activated protein kinase 6|p97-MAPK|protein kinase, mitogen-activated 5|protein kinase, mitogen-activated 6 protein-coding 1345876 MAPK6PS1 mitogen-activated protein kinase 6 pseudogene 1 12504858 317686 NG_002454,AC022034 Erk3ps1 pseudo 1342650 MAPK6PS2 mitogen-activated protein kinase 6 pseudogene 2 12504858 254664 NG_002448,AP000953 pseudo 1351416 MAPK6PS3 mitogen-activated protein kinase 6 pseudogene 3 12504858 317684 NG_002453,AL157932 pseudo 1347733 MAPK6PS4 mitogen-activated protein kinase 6 pseudogene 4 12504858 286065 NG_002451,AC026241,AC103773 Erk3ps4 pseudo 1348878 MAPK6PS5 mitogen-activated protein kinase 6 pseudogene 5 12504858 286156 NG_002452,AC021001 pseudo 1345501 MAPK6PS6 mitogen-activated protein kinase 6 pseudogene 6 12504858 282967 AC069546,NG_002449 pseudo 1345735 MAPK7 mitogen-activated protein kinase 7 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq] 2298794,2298796,2298532,1580863 20936779,7646528,7759517,16626623,16456541,17322878,19089993,18973138,18716062,18567890,18472963,18322228,18280112,17998143,17692050,17624732,17567985,17452529,17342168,17272811,17148583,17131384,17052197,17018293,20736307,20736311,20832753,20729331,9858528,9790194,9753748,9535909,9535905,9461566,9384584,8631994,12239168,12659851,12628002,16950928,16941494,16835228,16735500,16344560,16316418,16166637,15994942,15716121,15692064,15608616,15548525,15075238,14718574,14679215,14583600,12637502,12477932,12091247,12048211,12042304,11948414,11739740,11544482,11278431,11254654,11139578,10849446,10781600,10531364,10473620,10072598,19913121,20628086,20643107,20551324,19011954,19304531,19414528,19440538,19605361,19666008,19823867,19855844,20232315,20237496,20538799,15276183,20956558 2298794,2298796,2298532 5598 NM_139033,NM_139032,NM_002749,NM_139034,AC124066,CH471212,U29727,AB209611,AK295376,AY534741,BC007404,BC007992,BC009963,BC030134,BP871947,CR592256,CR604533,DA452383,DB133227,U25278,U29725,U29726 NP_620602,NP_620601,NP_002740,NP_620603,EAW50883,EAW50884,EAW50885,EAW50886,EAW50887,AAA82933,BAD92848,BAG58335,AAS38577,AAH07404,AAH07992,AAH09963,AAH30134,AAA81381,AAA82931,AAA82932,Q13164,ADR82751 Hs.150136 BMK1|ERK4|ERK5|PRKM7 BMK-1|BMK1 kinase|ERK-5|MAP kinase 7|MAPK 7|big MAP kinase 1|extracellular signal-regulated kinase 5|extracellular-signal-regulated kinase 5|mitogen-activated protein kinase 7 protein-coding 732271 MAPK8 mitogen-activated protein kinase 8 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 2298577,2298561,2293875,1581694,1582310,1582313,1580863,1582325,1582316,1582317,1582311,1582329,1582315 19913121,20371626,20450729,20511226,20628086,20648623,12239168,15696159,15693750,15665513,15657352,15655348,15637062,15629131,15569856,15542843,15528994,15527495,15516492,15474087,15456887,15345747,15326485,15302935,15238629,15225643,15013949,14981905,14766760,14729602,14724588,14701702,14699155,14688370,14637155,14561739,14557276,14551213,14532003,14514687,14504284,14500675,12917434,12902351,12878610,12859962,12853963,12847227,12818176,12810082,12763138,12756254,12734330,12707267,12689591,12646564,12646240,12592382,12576423,12538493,12514174,12478662,12421945,12417588,12413764,12391307,12359245,12354774,12351702,12351658,12296995,12242293,12225289,12206715,12189133,12171600,12167088,12148599,12143039,12140754,12138158,12135322,12121974,12095152,12079429,12058028,12058026,12052834,12039864,12023963,11983683,11971973,11948398,11931768,11912216,11865055,11788583,11781324,11749722,11700324,11606564,11602244,11525649,11489891,11448159,11432831,11350938,11323415,11283254,11279197,11278799,11278789,11260070,11062067,11057897,11042694,10913135,10799874,10797012,10756100,10747973,10722755,10713157,10629060,10601313,10597297,10585392,10567572,10551811,10523642,10521505,10509564,10471813,10446219,10391943,9889198,9872331,9851932,9788880,9733513,9732264,9670954,9661668,9621077,9405416,9396779,9393873,9343414,9223324,9211903,9207092,9199329,9195981,9129988,9030579,8917518,8632909,8621542,8586671,8177321,7839144,7737130,7737129,7642542,1748630,15603708,16481105,12775419,12089333,12960231,12857973,8654373,10490659,11238452,15334056,19234442,14967141,14764673,10912793,8137421,9162092,12591950,19620725,19596001,19478459,19454725,19424800,19418584,19352384,19351724,19339050,19286999,19248119,19206162,19194824,19168796,19166930,19159663,19097143,19074436,19071215,19060920,19056926,19052872,19041150,19037093,19036714,19033664,19019824,18996088,18989785,18982452,18978303,18950845,18936517,18922473,18845538,18818208,18815275,18782768,18769111,18757369,18723442,18718914,18713996,18713649,18703151,18682391,18667537,18663379,18651223,18636174,18620777,18603327,18594007,18573678,18570871,18547751,18541008,18540881,18524773,18506470,18495129,18457359,18439101,18429822,18405916,18401423,18373696,18356158,18348163,18337589,18325654,18316603,18316600,18297686,18293403,18292600,18288129,18286207,18276794,18256527,18253836,18249102,18219313,18218857,18212053,18199680,18181766,18164704,18094581,18087676,18086557,18082745,18055217,18036196,18025271,17982228,17967471,17942603,17933493,17913539,17908987,17904874,17883418,17785464,17719653,17704768,17703233,17702750,17699782,17693927,17690186,17652454,17640761,17626013,17620321,17603935,17601799,17584736,17568996,17545598,17541429,17496921,17481915,17478078,17453826,17317777,17303384,17296730,17255354,17192257,17178870,17158878,17079291,17074809,17054907,17008315,16983342,16972261,16927023,16912864,16895791,16824735,16815888,16814421,16802349,16794185,16760468,16699726,16687404,16648634,16581800,16569638,16465391,16434970,16412424,16407310,16381010,16339571,16328781,16321971,16307741,16283431,16282329,16260609,16260419,16243842,16176806,16166642,16153436,16105650,16086581,16038800,15981086,15890690,15860507,15778501,15778365,15769735,15755722,15733859,11698270,11468147,12714584,9045910,15246824,11504923,9403476,17158886,16395283,14597672,10394361,15827086,11153078,11707464,11279118,10357815,14633987,11479302,9774977,7535770,11279232,10187783,11551945,11387337,11346645,9405400,15659383,16007099,9020136,12659851,9235954,9374537,20483637,20632440,20647313,20680486,16740711,17145805,20944115,20551953,20512919,20060003,15538975,20878914,20452983,20225236,20581839,19690982,20088952,20525557,20566643,10346818,10856240,10878576,11517249,12097334,12376548,12477932,12787561,15483136,15688026,15721744,16291755,16533805,16810318,17023523,18344085,18979912,19154785,19468799,19523467,19567513,19570911,19574423,19589256,19604147,19616043,19638579,19664626,19667122,19676104,19686584,19693773,19695707,19723092,19723627,19748889,19778898,19782079,19801633,19802005,19803394,19806201,19815509,19822148,19822666,19859790,19862774,19864026,19877043,19893453,19900593,19901160,19910486,19923798,19937141,19940138,19940360,19966288,19995557,19996270,20018857,20027304,20056178,20056910,20069553,20070836,20070945,20074375,20086174,20102411,20103647,20116378,20130137,20138424,20139358,20142324,20145041,20150185,20156194,20173753,20432452,20483734,8224842,9520479,9808624,15169762,15276183,16611996,20717968 2298577,2298561,2293875,1581694,1582310,1582313,1582325,1582316,1582317,1582311,1582329,1582315 5599 NM_002750,NM_139049,NM_139046,NM_139047,AC016397,CH471187,AB451231,AB451271,AB451354,AB451398,AK292523,AL137667,BC130570,BC130572,BC144063,CR614448,DQ234352,L26318,U34822,U35004,U35005 NP_002741,NP_620637,NP_620634,NP_620635,EAW93129,EAW93130,EAW93131,EAW93132,EAW93133,EAW93134,EAW93135,EAW93136,EAW93137,EAW93138,BAG70045,BAG70085,BAG70168,BAG70212,BAF85212,AAI30571,AAI30573,AAI44064,ABB29981,AAA36131,AAC50607,AAC50610,AAC50611,P45983,Q308M2,ADR83167 Hs.138211 JNK|JNK1|JNK1A2|JNK21B1/2|PRKM8|SAPK1 JNK-46|JNK1 alpha protein kinase|JNK1 beta protein kinase|JUN N-terminal kinase|MAP kinase 8|MAPK 8|OTTHUMP00000019552|c-Jun N-terminal kinase 1|mitogen-activated protein kinase 8|mitogen-activated protein kinase 8 isoform JNK1 alpha1|mitogen-activated protein kinase 8 isoform JNK1 beta2|protein kinase JNK1|stress-activated protein kinase 1|stress-activated protein kinase JNK1 protein-coding 733615 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 The protein encoded by this gene is a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq] 633194,1580863,1579811,2293880 11907332,16456539,17709393,19491104,19616077,11238452,11726277,9933567,10574993,18480379,18286207,17200414,16301330,15998799,15911620,15894166,15868948,15138488,14507925,12937412,12917434,12893827,9442013,9235893,9110174,8619474,12508107,16169070,12783873,12756254,12740599,12665528,12563035,12524447,12477932,12194869,12064607,12024021,11912189,11790792,11724784,11700324,11585908,11517249,11147798,10827173,10748095,10700186,10629060,10490659,9733513 633194,1579811,2293880 9479 NM_005456,NG_012153,AC068385,CH471064,AB209720,AF007134,AF074091,AK293637,AK295942,BC035920,BC068470,BI548334,CR605837 NP_005447,EAW68027,EAW68028,BAD92957,AAC19150,AAD20443,BAH11553,BAG58726,AAH68470,Q59EU1,Q6NUQ9,Q9UQF2 Hs.234249 IB1|JIP-1|JIP1|PRKM8IP C-Jun-amino-terminal kinase-interacting protein 1|IB-1|JNK MAP kinase scaffold protein 1|JNK-interacting protein 1|OTTHUMP00000166058|PRKM8 interacting protein|islet-brain 1|mitogen-activated protein kinase 8-interacting protein 1 protein-coding 1320222 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq] 1580863,2293891,2293880 12893827,10490659,12023290,12244047,10756100,16456539,15489334,12529303,12524447,12477932,12024021,11378392,10827173,10629060,10591208,9110174,8889548,8619474,12508107,16169070,21048139 2293891,2293880 23542 NM_016431,CH471138,U62317,AF136382,AF218778,AK293580,AK294265,AL021708,BC009940,BC037271,BC047527,BU732443,U79261,NM_012324 ACT64536,NP_036456,NP_057515,EAW73577,EAW73578,EAW73579,EAW73580,AAB03340,AAF00980,AAF32323,BAG57050,BAG57558,CAA16714,AAH09940,AAH47527,AAB50207,Q13387,Q86VW5,ACE87814 Hs.558180 IB2|JIP2|PRKM8IPL C-Jun-amino-terminal kinase-interacting protein 2|IB-2|JIP-2|JNK MAP kinase scaffold protein 2|JNK MAP kinase scaffold protein JIP2|JNK-interacting protein 2|OTTHUMP00000196549|OTTHUMP00000196550|PRKM8 interacting protein-like|homologous to mouse JIP-1|islet-brain 2|islet-brain-2|mitogen-activated protein kinase 8-interacting protein 2 protein-coding 1347522 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863,2293339,2293880 11024282,12941697,14968112,16456539,19036714,19574423,20018857,16368877,16341674,16141199,15911620,15616553,15532711,15302935,15146197,14702039,12477932,12189133,11738026,11274738,11214971,11157797,11044439,10629060,10523642,12226752,16169070,10470851,11106729 2293339,2293880 23162 BC144486,CN405915,NM_015133,NM_001040439,AC012180,AE006639,AL031710,AL031717,AL031718,CH471112,AB028989,AI291346,AK024437,BC087861,BC137123,BC137124,BC150266,BM791368,BQ083050,BQ231003,BQ961808,BY795428,CA776361,CD557812,CN361410,CN405914,CR624644,CR749696 NP_055948,NP_001035529,AAK61290,CAM26364,CAM26394,CAB72318,EAW85630,EAW85631,EAW85632,EAW85633,BAA83018,BAB15727,AAI37124,AAI37125,AAI44487,AAI50267,CAH18476,Q68CV8,Q9UPT6 Hs.207763 DKFZp762N1113|FLJ00027|JIP3|JSAP1|KIAA1066|SYD2|syd C-Jun-amino-terminal kinase-interacting protein 3|C-jun-amino-terminal kinase interacting protein 3|JIP-3|JNK MAP kinase scaffold protein 3|JNK-interacting protein 3|JNK/SAPK-associated protein-1|JNK/stress-activated protein kinase-associated protein 1|homolog of Drosophila Sunday driver 2|mitogen-activated protein kinase 8-interacting protein 3 protein-coding 1351126 MAPK8IPP mitogen-activated protein kinase 8 interacting protein, pseudogene 9933567,9933567 10364,644253 AC005829,AC139677,NG_022469,XM_003119452 XP_003119500 PRKM8IPP pseudo 736023 MAPK9 mitogen-activated protein kinase 9 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 2298577,2304231,2298561,2293875,1580863,1582314,1300048,1302568 1602151,20525557,20595622,19776015,21110917,10878576,16533805,18423204,19154785,19567513,19589256,19591174,19806201,19864026,19906316,19913278,19996270,20056178,20354187,20379614,20432452,20483637,15276183,16611996,7737129,602896,12775419,8654373,15158451,18262097,7969172,19651615,19620725,19596001,19385049,19339050,19097143,19093167,18950845,18940813,18838864,18801372,18612143,18586006,18439101,17908987,17785791,17637567,17397142,17296730,17192257,17074809,16552729,16412424,16381010,16189514,16169070,15911620,15860507,15778501,15693750,15655348,15637069,15527495,15489334,15474087,15326485,15262983,14724588,14504284,12818176,12788955,12743126,12538493,12477932,12417588,12225289,12189133,12171600,12167088,12110590,12023963,11959861,11948398,11602244,11566021,11527157,11359773,11278789,11278395,11172026,11062067,11057897,11042694,11024282,10811224,10797012,10669748,10629060,10523642,10490605,10471813,10381549,9732264,9628874,9405416,9393873,9374467,9130707,8945519,8649858,8626452,8548291,8001819,15603708,9045910,16481105,12960231,12857973,12239168,11698270,11468147,12714584,15246824,12089333,11504923,9403476,12384512,12151396,9019171,7642542,11279232,10490659,9733513,11749722,9155018,20936779 2298577,2304231,2298561,2293875,1582314,1302568 5601 HM036706,HM036707,HM036708,HM036709,NM_002752,NM_139069,NM_139070,NM_001135044,AC008610,AC104115,CH471165,DQ066599,AB451302,AB451355,AB451433,AK289638,BC032539,NM_139068,BQ025589,CR536580,CR612106,CR614221,CR619061,DB451562,EU927388,L31951,U09759,U34821,U35002,U35003 ADH10365,ADH10366,ADH10367,ADH10368,NP_620707,NP_002743,NP_620708,NP_620709,NP_001128516,EAW53757,EAW53758,EAW53759,EAW53760,EAW53761,EAW53762,EAW53763,EAW53764,EAW53765,AAY46156,BAG70116,BAG70169,BAG70247,BAF82327,AAH32539,CAG38817,ACH57450,AAA56831,AAA74740,AAC50606,AAC50608,AAC50609,P45984,ABM84639,ABW03645 Hs.484371 JNK-55|JNK2|JNK2A|JNK2ALPHA|JNK2B|JNK2BETA|PRKM9|SAPK|p54a|p54aSAPK Jun kinase|MAP kinase 9|MAPK 9|OTTHUMP00000161542|OTTHUMP00000161543|c-Jun N-terminal kinase 2|c-Jun kinase 2|mitogen-activated protein kinase 9|stress activated protein kinase alpha ii|stress-activated protein kinase JNK2 protein-coding 1313344 MAPKAP1 mitogen-activated protein kinase associated protein 1 This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq] 2308795,1580863 1849280,15718470,18687895,18316587,17303383,17081983,17054722,17043309,16962653,16919458,16189514,16000324,15988011,15722200,15489334,15363842,15324660,12477932,15778465,19913121,20628086,21170086,19851296,20198315,20379614 2308795 79109 AY633624,AY633625,AY633626,BC002326,BC003044,BC035236,BX438260,M37191,NM_001006621,NM_001006620,NM_024117,NM_001006619,NM_001006617,NM_001006618,AL162584,AL358074,AL359632,CH471090,AK290060,AK295364,AK298841,AK309507,AK310361,AK316149,AL833042,AY425957,AY524429,AY524430,AY524431,AY524432 AAT46478,AAT46479,AAT46480,AAH02326,AAH03044,AAA36551,Q6TAR2,Q9BPZ7,ABM83654,ABW03519,NP_001006622,NP_001006621,NP_077022,NP_001006620,NP_001006618,NP_001006619,CAI39500,CAI39501,CAI39502,CAI39503,CAI39505,CAI39506,CAI39507,CAI39508,CAI39887,CAI39888,CAI39889,CAI39890,CAI39891,CAI39892,EAW87630,EAW87633,BAF82749,BAH12045,BAH12881,BAH14520,CAH56311,AAR07950,AAS90839,AAS90840,AAS90841,EAW87632,EAW87631,AAS90842 Hs.495138 JC310|MGC2745|MIP1|SIN1|SIN1b|SIN1g MEKK2-interacting protein 1|OTTHUMP00000022137|OTTHUMP00000022141|SAPK-interacting protein 1|TORC2 subunit MAPKAP1|mSIN1|mitogen-activated protein kinase 2-associated protein 1|ras inhibitor MGC2745|stress-activated map kinase interacting protein 1|stress-activated map kinase-interacting protein 1|stress-activated protein kinase-interacting 1|target of rapamycin complex 2 subunit MAPKAP1 protein-coding 1606829 MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 2315047 16278218,17255097,17292828,8280084,8179591,11520933,9297626,8846784,19171422,18326031,17481585,16861915,16774924,16424170,16407830,15692053,15629715,15489334,15287722,15271996,15094067,14688255,14499342,12861023,12829704,12791252,12751751,12582162,12477932,12456657,12377770,12171911,12171600,12147348,11844797,11551945,11448140,11359875,11042204,10781029,10779545,10753652,10559880,10318869,9768359,9759836,9628873,8995385,8887554,20805296,20375303,8413226,7923354,7905823,7901013,7799959,7592979,6150037,1332886,9687510,15688025,20595389,8995217,8617238,20932473,19951368,15276183,19672773,20068172,20081887,20212154 2315047 9261 NM_004759,NM_032960,AL591846,CH471100,AK307499,BC036060,BC052584,CR595495,X75346 NP_004750,NP_116584,CAI13543,CAI13544,EAW93525,EAW93526,EAW93527,EAW93528,EAW93529,EAW93530,EAW93531,EAW93532,AAH36060,AAH52584,CAA53094,P49137 Hs.643566 MK2 MAP kinase-activated protein kinase 2|MAPK-activated protein kinase 2|MAPKAP kinase 2|MAPKAPK-2 protein-coding 1312732 MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. [provided by RefSeq] 2315047,1580863 15489334,15302577,12477932,12171600,11975836,11157753,9207191,8943323,8774846,8622688,8603390,10781029,11520933,9297626,8626550,8846784,19367581,19208361,15563468,17894482,19937655,15276183,19913121,20628086,17207965 2315047 7867 AC096920,NM_004635,CH471055,AB451303,AB451434,AK290969,AK313565,BC001662,BC007591,BC010407,BC068497,CR606251,U09578,U43784 NP_004626,EAW65131,EAW65132,EAW65133,BAG70117,BAG70248,BAF83658,BAG36339,AAH01662,AAH07591,AAH10407,AAD09136,AAC50428,Q16644,ACE87718,ACE87034,ADQ32312 Hs.234521 3PK|MAPKAP3 MAP kinase-activated protein kinase 3|MAPK-activated protein kinase 3|MAPKAP kinase 3|MAPKAPK-3|OTTHUMP00000210806|OTTHUMP00000210807|chromosome 3p kinase protein-coding 1354160 MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 The protein encoded by this gene is a member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. In vitro, this kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 2315047 12130507,20936779,9628874,17254968,19166925,15489334,14702039,12808055,12477932,12171600,12117915,10978317,10708586,9480836,9468497,8636128,17894482,18029348,18720373,19473979,19484198 2315047 8550 NM_139078,NM_003668,AC003029,AF032437,CH471054,AK122767,AL110301,AW780199,BC000833,BC041049,BC047284,CR618097 NP_620777,NP_003659,AAC39863,EAW97979,EAW97980,EAW97981,BAG53717,CAB53747,AAH00833,AAH41049,AAH47284,Q8IW41 Hs.413901 PRAK MAP kinase-activated protein kinase 5|MAPK-activated protein kinase 5|MAPKAP kinase 5|MAPKAPK-5|p38-regulated/activated protein kinase protein-coding 1604640 MAPKBP1 mitogen-activated protein kinase binding protein 1 16713569,15491607,14702039,12477932,10471813,9628581,19913121,20628086 23005 NM_014994,NM_001128608,AC020659,AC073657,CH471125,AB011168,AB177850,AK091616,AK292414,AK302482,AL833267,BC036660,BC113983,BC114493,BX640787,BX648786,CR609233 NP_055809,NP_001122080,EAW92514,EAW92515,EAW92516,EAW92517,EAW92518,EAW92519,BAA25522,BAD66828,BAF85103,BAG63769,AAH36660,AAI13984,AAI14494,O60336 Hs.513661 MGC138851|MGC138852 JNK-binding protein 1|JNKBP-1|OTTHUMP00000217820|mitogen activated protein kinase binding protein 1|mitogen-activated protein kinase binding protein 1-like|mitogen-activated protein kinase-binding protein 1 protein-coding 1316146 MAPKSP1 MAPK scaffold protein 1 This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Multiple transcript variants are expressed by this gene, but only one variant is thought to express a protein. [provided by RefSeq] 20655927,15016825,17908799,17254543,17178906,17113937,16344560,15923628,15547943,15489334,15263099,15118098,14702039,14611647,12479806,12477932,11483580,11266467,9733512,9373149,8125298,20381137 8649 NR_024170,NM_021970,AP001962,CH471057,AF130115,AF201947,AF305816,AK022313,AK093581,AK223311,AK311755,BC005340,BC026245,BC110402,BI562630,CR598975,CR602830,CR611511,CR613681,DA300823,FB746701 NP_068805,EAX06112,EAX06113,AAG35540,AAF17239,AAK55519,BAD97031,BAG34698,AAH26245,Q53FH6,Q96JR7,Q9UHA4,ABM84034,ABM87380,CAT04668 Hs.728129 MAP2K1IP1|MAPBP|MP1 MEK binding partner 1|MEK partner 1|MEK-binding partner 1|OTTHUMP00000219461|PRO0633|mitogen-activated protein kinase kinase 1 interacting protein 1|mitogen-activated protein kinase kinase 1-interacting protein 1|mitogen-activated protein kinase scaffold protein 1 protein-coding 1353139 MAPRE1 microtubule-associated protein, RP/EB family, member 1 The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq] 1580863 20696710,15631994,7606712,11943150,10773885,19255245,19126680,18937283,18477699,17968321,17002498,16030254,15616574,15592455,15489334,14514668,12857735,12686597,12477932,12475954,12388762,11780052,11701125,11470413,10899006,10811817,10644998,10226031,10188731,10030671,9724749,8889548,11076968,12221128,12852856,16462731,17350042,18029348,19543227,19632184,20008324,20508983,7790358,19737819 22919 NM_012325,AL035071,CH471077,AK297273,AK310817,AK312590,BC040410,BC106068,BC109281,BC128442,BJ992159,BM983860,CR592459,U24166 NP_036457,CAB53072,EAW76348,EAW76349,BAG59745,BAG35484,AAI06069,AAI09282,AAI28443,AAC09471,Q15691,ACE87787,ACT64430 Hs.472437 EB1|MGC117374|MGC129946 APC-binding protein EB1|adenomatous polyposis coli-binding protein EB1|end-binding protein 1|microtubule-associated protein RP/EB family member 1 protein-coding 2824416 MAPRE1P1 MAPRE1 pseudogene 1 11161807 80327 AC104371,AF288786,NG_002682,NG_026074 MAPRE1P pseudo 3184476 MAPRE1P2 MAPRE1 pseudogene 2 18615156,19721433,20031603 642305 AADB02006444,ABBA01074268,AC017013 pseudo 1344538 MAPRE2 microtubule-associated protein, RP/EB family, member 2 The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. The function of this protein is unknown; however, its homology suggests involvement in tumorigenesis of colorectal cancers and proliferative control of normal cells. This gene may belong to the intermediate/early gene family, involved in the signal transduction cascade downstream of the TCR. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 11256614,16455083,19778897,19787265,20008324,20379614,9233623,18081319,17889670,17350042,17081983,16769578,16763565,16381901,16189514,16007168,15862129,15631994,15592455,15489336,15489334,14702039,14514668,12477932,12475954,12388762,11076863,10811817,10188731,10030671,9724749,11470413,7606712 10982 NM_001143827,NM_014268,NR_026570,AC015967,CH471088,AB016823,AK090945,AK294833,AK296251,AK315766,BC007318,BT020086,CR536545,DC335558,DC341673,DC354326,NM_001143826,DR422766,X94232,HI574148 NP_001137298,NP_001137299,NP_055083,EAX01336,EAX01337,EAX01338,EAX01339,EAX01340,BAA83375,BAG52251,BAH11899,BAG58966,BAG38118,AAH07318,AAV38889,CAG38782,CAA63923,Q15555,CAL38581,ABM83849,ABM87171,CBX47563 Hs.532824 EB1|EB2|RP1 APC-binding protein EB1|APC-binding protein EB2|T-cell activation protein, EB1 family|end-binding protein 2|microtubule-associated protein RP/EB family member 2 protein-coding 1343455 MAPRE3 microtubule-associated protein, RP/EB family, member 3 The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq] 1580863 16079286,15631994,15489334,14514668,12477932,11161807,10644998,10188731,9233623,15117959,20632835,18029348,17310996,19255245,16189514,16169070,19696028,20008324 22924 NM_012326,AC013472,AF288787,CH471053,AB025186,AK312342,BC011557,CR536523,CR541845,CR604092,Y11174 NP_036458,AAY14653,AAK07556,AAK07557,EAX00660,EAX00661,EAX00662,EAX00663,EAX00664,EAX00665,EAX00666,BAA82958,BAG35263,AAH11557,CAG38760,CAG46643,CAA72060,Q6FHB0,Q9UPY8,ABM83231,ABM86430 Hs.515860 EB3|EBF3|EBF3-S|RP3 APC binding protein|EB1 protein family member 3|OTTHUMP00000200910|end-binding protein 3|microtubule-associated protein RP/EB family member 3 protein-coding 736496 MAPT microtubule-associated protein tau This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq] 1300048,1358432,1302530,1358431,1302532,1302531,1580863 18315566,20061629,19559700,19665462,19782075,20471030,15447663,16434389,10899937,10987820,11303757,16143467,16275660,16364302,17318302,17723255,18276036,18403055,18462837,18668363,18946722,19307538,19365643,19401603,19433664,19450659,19478088,19491104,19498037,19517062,19524111,19525898,19527721,19540327,19542604,19549281,19560101,19591849,19625749,19647741,19654187,19667268,19681044,19684401,19686388,19691919,19693433,19730170,19730171,19736351,19766248,19768372,19770469,19786698,19794916,19812213,19826005,19858456,19879020,19889475,19895707,19897570,19912324,19914360,19915575,19919107,19920325,19923278,19936237,19938685,19940479,19959468,19961883,20004218,20005921,20020531,20070850,20085902,20133804,20157246,20171924,20193038,20219685,20357768,20437541,20498436,3111527,20478262,18771816,20579400,20679343,20720012,20159774,20375017,20377816,20460118,20466736,20599975,12509859,12505985,12492138,12477932,12476321,12473774,12470988,12464279,12435421,12387897,12387894,12368474,12368187,12325083,12231446,12226093,12220379,12212558,12198126,12177374,12144513,12112079,12082079,12070658,12056929,12032355,12000767,11988340,11971082,11971081,11959919,11959122,11958849,11939896,11921059,11912108,11906000,11891833,11889249,11861703,11852060,11837744,11831556,11831025,11826099,11812770,11706972,11698154,11641718,11601501,11585254,11456301,11391737,11313338,11311121,11278002,11264299,11255441,11220749,11181841,11162250,11117553,11117542,11117541,11104762,11089577,11071507,10899436,10840038,10822460,10802785,10767321,10762698,10737616,10604746,10534245,10514099,10489057,10464279,10412802,10393977,10391244,10374757,10214944,10208578,10090741,9973279,9922135,9836646,9832145,9789048,9771888,9736786,9735171,9689133,9641683,9636220,9629852,9614189,9565682,9546672,9512010,9353289,9326300,9199504,9147408,8999860,8910513,8632146,8546229,7936241,7931292,7706316,7684835,7567473,7566346,6743699,6304075,3131773,2833519,2516729,2495000,2484340,2123288,1915258,1723470,1713721,1512244,1420178,1330687,1181841,18292230,18248624,8620924,12176984,18430997,18413467,18395614,18382889,18380664,18359772,18351740,18338250,18322394,18319590,18318434,18312411,18307268,18307033,18284428,18272392,18234697,18216194,18210157,18185033,18184373,18182010,18177439,18166610,18163405,18162161,18093153,18072964,18070606,18065436,18052981,18038270,18022644,18007595,17986027,17976912,17954934,17951083,17932487,17925548,17920160,17914261,17908237,17898350,17889968,17826340,17822846,17727636,17721707,17707586,17685560,17683088,17662000,17661153,17637803,17608454,17602795,17562708,17561815,17555970,17517691,17514749,17512092,17499212,17493040,17409229,17389797,17386961,17385861,17376439,17373874,17362999,17357082,17341679,17311412,17309878,17307736,17304350,17274033,17266761,17204369,17192721,17192672,17186252,17185385,17179995,17176091,17174556,17172055,17169350,17166276,17135279,17101697,17085483,17084815,17078951,17072625,17056594,17045592,17042504,17029411,17028556,17023423,17021754,17008320,16987883,16958643,16943417,16939415,16930434,16914144,16909000,16908029,16906164,16906163,16902761,16891100,16879631,16877359,16876320,16875690,16839689,16818492,16807328,16793187,16788822,16781671,16777844,16753151,16738255,16735465,16734669,16717456,16690493,16687396,16678934,16651626,16634634,16609851,16606369,16566606,16552760,16519508,16503405,16487687,16478768,16478530,16477009,16475817,16475161,16464956,16464864,16456666,16443603,16420965,16415175,16410051,16386371,16371011,16362832,16362633,16315267,16251138,16246844,17565981,9763511,7566652,9736630,12888622,16446437,7972031,1918161,2498079,8522593,1057175,1389180,1421571,8642405,10747907,19558713,19523877,19450558,19429119,19371722,19324008,19308965,19304664,19273536,19264130,19255408,19240967,19236926,19232747,19226187,19224617,19190923,19165922,19158426,19153649,19126401,19112391,19091059,19090983,19074461,19070646,19057915,19039589,19022385,19011737,19010781,19001166,18992725,18992292,18991351,18985386,18971445,18948254,18940799,18930955,18930114,18925637,18854867,18848323,18843496,18841019,18830724,18806919,18805362,18803694,18803648,18803399,18785640,18768919,18765933,18725924,18702695,18679696,18671940,18662339,18661559,18658135,18641620,18640988,18636984,18596978,18588978,18587238,18586097,18583940,18562203,18561034,18558718,18541914,18511295,18509094,18500754,18495933,18495299,18490011,18467692,18460467,18458217,18445112,18431254,18431250,16240366,16226838,16226718,16225961,16221853,16195395,16182262,16176937,16165272,16157753,16129700,16125396,16115884,16114883,16042549,16023860,16020737,16014719,16005901,16000144,15997419,15994305,15975068,15973541,15963990,15963640,15953362,15950767,15940384,15878580,15869817,15855649,15855160,15848182,15823754,15823045,15822905,15795929,15792962,15765246,15750210,15746184,15733856,15732111,15721985,15671021,15652510,15638805,15627775,15596612,15570502,15546861,15542598,15532542,15525651,15509534,15489334,15477533,15475684,15464261,15459824,15385569,15376481,15372253,15365985,15356202,15345747,15302935,15297935,15293277,15283964,15266787,15249677,15240881,15228592,15228591,15201350,15198676,15178951,15178932,15178931,15140937,15126504,15121898,15115761,15106853,15096589,15083285,15075227,15053964,15034924,15020716,15009664,15004327,14999081,14993907,14991829,14991828,14991810,14967043,14966169,14963027,14769048,14769047,14761950,14730711,14702039,14697667,14660557,14627651,14615799,14612456,14600827,14595660,14594945,14572459,14523627,14517953,14503643,12975285,12963086,12937143,12932819,12925374,12911634,12883828,12872001,12853572,12847166,12826737,12811584,12796837,12765608,12756133,12714745,12710929,12678504,12649279,12641733,12629248,12590615,12573250,12565146,12527113,14636947,20379729,19749420,19926863,19943189,20143409,20520830,20574532,20606400,20711061,20711177,20415586,11166961,20359515,20665688,20800603,20805224,20837363,20876472,20930301,20951764,21044948,21044986,21058943,21063069,21073671,20045477,20473135,20615469,20650958,20683187,20862329,21123557,20571215,20921222,20921227,19157893,19542619,20805522,20513372,20658984,20658986,20658988,20658994,20658995,20658996,20663882,20837015,20881758,20926667,18631770 1358432,1302530,1358431,1302532,1302531 4137 NM_016835,NM_005910,NM_001123067,NM_016834,NM_016841,NG_007398,AC004139,AC010792,AC217771,AC217779,AF047863,BX544879,CH471233,CR936218,AB073354,AF456477,AK055986,AK095802,AK226139,AK299658,AK299704,AW161357,AW295014,AY526356,NM_001123066,DN996935,FJ429137,AY730549,BC000558,BC032572,BC040444,BC061892,BC071830,BC094805,BC098281,BC099721,BC101936,BC114504,BC114948,BI552187,BN000503,BT006772,CR599561,CR623207,DR002467,J03778,M25298,X14474,HI635311 NP_001116538,NP_058519,NP_005901,NP_001116539,NP_058518,NP_058525,AAC04277,AAC04278,AAC04279,EAW93565,EAW93566,EAW93567,EAW93568,EAW93569,EAW93570,EAW93571,EAW93572,EAW93573,EAW93574,BAB71065,BAG53132,BAG61575,BAG61605,AAS17881,ACJ54951,AAU45390,AAH00558,AAH98281,AAH99721,AAI01937,AAI14505,AAI14949,CAG26750,AAP35418,AAA60615,AAA57264,CAA32636,P10636,Q96N45,CBX55119 Hs.101174 DDPAC|FLJ31424|FTDP-17|MAPTL|MGC138549|MSTD|MTBT1|MTBT2|PPND|TAU G protein beta1/gamma2 subunit-interacting factor 1|PHF-tau|microtubule-associated protein tau|microtubule-associated protein tau, isoform 4|neurofibrillary tangle protein|paired helical filament-tau protein-coding 1354489 MARCH1 membrane-associated ring finger (C3HC4) 1 1580863 14702039,18389477,18305173,14722266,9847074,20379614 55016 AC079232,AC079240,AC092631,AC105250,AC112247,NM_017923,AC093788,AC098867,AC108154,CH471056,AK000675,AK289711,AK301408,AL713759,AV716666,AW118953,CR607777,NM_001166373,AK091335 NP_060393,EAX04834,EAX04835,BAA91319,BAF82400,BAH13475,CAD28529,Q8TCQ1,AAI48532,AAI53125,NP_001159845 Hs.608487,Hs.592804 DKFZp564M1682|FLJ20668|MARCH-I|RNF171 E3 ubiquitin-protein ligase MARCH1|OTTHUMP00000220027|RING finger protein 171|membrane-associated RING finger protein 1|membrane-associated RING-CH protein I protein-coding 1601818 MARCH10 membrane-associated ring finger (C3HC4) 10 19549727,17604280,15489334,14702039,12477932,19724895,19851296,20198315 162333 NM_152598,NM_001100875,AC005821,AC068512,AC080038,CH471109,AK093076,AK097506,AK122947,AW473122,BC035021,BX648705,HC007264 NP_689811,NP_001094345,EAW94337,EAW94338,EAW94339,EAW94340,BAC04044,BAC05079,BAG53812,AAH35021,Q8NA82,CBH19437 Hs.665663 FLJ35757|MARCH-X|RNF190 membrane-associated RING finger protein 10|membrane-associated RING-CH protein X|probable E3 ubiquitin-protein ligase MARCH10|ring finger protein 190 protein-coding 1642105 MARCH11 membrane-associated ring finger (C3HC4) 11 17604280,12477932,20379614 441061 NM_001102562,AC016650,AC092335,BC150513,BC150514,CR590337,DB455291 NP_001096032,AAI50514,AAI50515,A6NNE9 Hs.662216 MARCH-XI E3 ubiquitin-protein ligase MARCH11|membrane-associated RING finger protein 11|membrane-associated RING-CH protein XI protein-coding 1351107 MARCH2 membrane-associated ring finger (C3HC4) 2 17980554,16428329,15689499,15489334,15146197,14722266,12477932,11042152,9110174,8619474 51257 NM_016496,NM_001005415,NM_001005416,AC136469,CH471139,AB197929,AF151074,AK130163,BC015910,BC032624,BC111388,BI546028,CN363445 NP_057580,NP_001005415,NP_001005416,EAW68924,BAD89359,AAF36160,AAH15910,AAH32624,AAI11389,Q9P0N8 Hs.631861 HSPC240|MARCH-II|RNF172 E3 ubiquitin-protein ligase MARCH2|RING finger protein 172|membrane-associated RING finger protein 2|membrane-associated RING-CH protein II protein-coding 1344254 MARCH3 membrane-associated ring finger (C3HC4) 3 1580863 16428329,15489334,14722266,12477932,9110174,8619474,19549727 115123 NM_178450,AC004507,AC005221,AC093532,AC137794,CH471086,AF055007,AK000103,AK290129,BC047569,BC146948,BC146964,DB455278 NP_848545,EAW48844,BAF82818,AAH47569,AAI46949,AAI46965,Q86UD3 Hs.132441 FLJ20096|MARCH-III|MGC48332|RNF173 E3 ubiquitin-protein ligase MARCH3|RING finger protein 173|membrane-associated RING finger protein 3|membrane-associated RING-CH protein III protein-coding 1353584 MARCH4 membrane-associated ring finger (C3HC4) 4 1580863 15489334,14722266,12477932,10718198,9110174,8619474 57574 NM_020814,AC012513,AC069155,AC098820,CH471063,AB037820,AL353945,AW051292,BC048793,BC098448,U79281 NP_065865,EAW70566,BAA92637,AAH48793,AAH98448,Q9P2E8,ACE87716,ACE87030 Hs.170388 MARCH-IV|MGC104908|RNF174 E3 ubiquitin-protein ligase MARCH4|RING finger protein 174|membrane-associated RING finger protein 4|membrane-associated RING-CH protein IV protein-coding 1346314 MARCH5 membrane-associated ring finger (C3HC4) 5 MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM] 737633 17606867,16936636,16874301,15489334,15164054,14722266,14702039,12477932,19741096,20103533,19549727 737633 54708 AL158040,AL161652,CH471066,AB191202,AK000452,AK294799,AK309175,BC015480,BE393612,CR616758,CR618394,CR622689,NM_017824 NP_060294,CAI13639,CAI15361,EAW50094,EAW50095,EAW50096,BAF02285,BAA91173,BAG57919,AAH15480,Q9NX47 Hs.573490 FLJ20445|MARCH-V|MITOL|RNF153 E3 ubiquitin-protein ligase MARCH5|membrane-associated RING finger protein 5|membrane-associated RING-CH protein V|mitochondrial ubiquitin ligase|ring finger protein 153 protein-coding 1343716 MARCH6 membrane-associated ring finger (C3HC4) 6 737633,1580863 16373356,15673284,15489334,14722266,14702039,12477932,11641273,9628581,19651899 737633 10299 NM_005885,AC012640,AC092336,CH471102,CQ834252,AB011169,AF009301,AK000970,AK296585,AK299339,AK300034,AK314686,BC013761,BC039293,BC046148,BC111494,BC136461,BC136462,BC142679,BC142694,CR603299 NP_005876,EAX08065,EAX08066,EAX08067,CAH05341,BAA25523,AAB66840,BAG50840,BAG59204,BAG61341,BAG61845,BAG37238,AAH46148,AAI36462,AAI36463,AAI42680,AAI42695,O60337 Hs.432862 DOA10|KIAA0597|MARCH-VI|RNF176|TEB4 E3 ubiquitin-protein ligase MARCH6|OTTHUMP00000221093|OTTHUMP00000221094|RING finger protein 176|doa10 homolog|membrane-associated RING finger protein 6|membrane-associated RING-CH protein VI|protein TEB-4 protein-coding 1603971 MARCH7 membrane-associated ring finger (C3HC4) 7 18410486,17161353,16868077,16713569,15815621,15670816,15489334,14722266,14702039,12477932,9373149,8125298,19901269,19549727 64844 NM_022826,AC009961,CH471058,AK022973,AK124225,AK222880,AK292836,AK310238,AL050171,AL597638,AL833651,BC003404,BC065014,BI462287,CR627026,AK299051,AK302347,AK316382 NP_073737,AAY14941,EAX11401,EAX11402,BAB14340,BAD96600,BAF85525,AAH03404,AAH65014,Q9H992,BAH12936,BAH13681,BAH14753 Hs.529272 AXO|AXOT|DKFZp586F1122|MARCH-VII|RNF177 E3 ubiquitin-protein ligase MARCH7|OTTHUMP00000204988|OTTHUMP00000204989|RING finger protein 177|axotrophin|membrane-associated RING finger protein 7|membrane-associated RING-CH protein VII protein-coding 1353860 MARCH8 membrane-associated ring finger (C3HC4) 8 16385451,19862010,20379614,20139978,18096478,12477932,15489334,15164054,14722266,14702039,12582153 220972 NM_145021,NM_001002265,NM_001002266,AL445201,AL512595,AL731567,CH471160,AA418494,AK023636,AK057289,AK307667,AK313340,AL833316,BC025394,BC066988,BF195460,BG433948,BG717635,BM906478 NP_659458,NP_001002265,NP_001002266,CAI12414,CAI12416,CAI41244,CAI41246,CAI41247,EAW86644,EAW86645,EAW86646,EAW86647,EAW86648,EAW86649,EAW86651,EAW86652,BAG36144,AAH25394,AAH66988,Q5T0T0,EAW86650 Hs.499489 MARCH-VIII|MIR|RNF178|c-MIR E3 ubiquitin-protein ligase MARCH8|OTTHUMP00000020832|RING finger protein 178|c-mir, cellular modulator of immune recognition|cellular modulator of immune recognition (c-MIR)|membrane-associated RING finger protein 8|membrane-associated RING-CH protein VIII protein-coding 1351043 MARCH9 membrane-associated ring finger (C3HC4) 9 737633,1580863 17174307,15489334,14722266,14702039,12477932,20870941,19913121,20628086 737633 92979 NM_138396,AC025165,CH471054,AK093897,AK313925,BC009489,BC036455,BC050397 NP_612405,EAW97063,EAW97064,EAW97065,BAC04247,BAG36646,AAH09489,AAH36455,AAH50397,Q86YJ5,Q8N9T1 Hs.632709 FLJ36578|MARCH-IX|RNF179 E3 ubiquitin-protein ligase MARCH9|RING finger protein 179|membrane-associated RING finger protein 9|membrane-associated RING-CH protein IX protein-coding 735485 MARCKS myristoylated alanine-rich protein kinase C substrate The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq] 1580863 1560845,19475567,19302977,18940893,18329017,18314541,18055557,17456004,17292354,17081983,16941482,16677610,15889447,15623535,15489334,15345747,15239673,15146197,14702039,14574404,14506265,12577052,12477932,11930178,11825894,11533058,11327693,10734119,9295331,8798548,8566422,8557118,8486722,8420923,8162705,8034575,7588787,2473066,1860846,1427823,1396720,20203291,19574534,19773446,19924305,20047593 4082 AL132660,CH471051,CS105042,DQ341274,M68955,AI142997,AK027274,AK074526,AW163148,BC013004,BC028284,NM_002356,BC039492,BC068059,BC089040,CN345330,D10522,M68956 NP_002347,CAI19942,EAW48258,EAW48259,CAJ01280,ABC67467,AAA59554,AAH13004,AAH28284,AAH68059,AAH89040,BAA01392,AAA59555,P29966,Q05C82,Q6NVI1,ACE87588,ACE86901 Hs.519909,Hs.712721 80K-L|FLJ14368|FLJ90045|MACS|PKCSL|PRKCSL myristoylated alanine rich protein kinase c substrate|myristoylated alanine-rich C-kinase substrate|myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)|phosphomyristin|protein kinase C substrate, 80 kDa protein, light chain protein-coding 1352052 MARCKSL1 MARCKS-like 1 11256614,17081983,16710414,16429158,16381901,15489336,15489334,15345747,12477932,11230166,11076863,10827182,9598313,9110174,8619474,8132675,1864362 65108 NM_023009,AF031640,AL109945,AY293577,CH471059,L76376,AL713653,AY007131,BC007904,BC066915,CR590657,CR591730,CR593904,CR594797,CR595141,CR595693,CR596150,CR596259,CR596703,CR596974,CR597180,CR599096,CR599424,CR602280,CR602564,CR603178,CR603508,CR603966,CR604752,CR607885,CR608551,CR609462,CR611461,CR611715,CR617460,CR621540,CR624801,CR625187,CR625318,X70326,AI879076 NP_075385,CAI22887,AAP37955,EAX07537,EAX07538,EAX07539,CAD28462,AAH07904,AAH66915,CAA49793,P49006,CAL38382,ABM84163,ABM87566 Hs.75061,Hs.707012 F52|MACMARCKS|MLP|MLP1|MRP MARCKS-like protein 1|MARCKS-related protein|mac-MARCKS|macrophage myristoylated alanine-rich C kinase substrate protein-coding 1349062 MARCO macrophage receptor with collagenous structure The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq] 1580863 10331948,9468508,19240061,16335952,16237101,15489334,12847263,12477932,12444143,12097327,11820786,11315932,10651831,7867067,20810988,19403625,20237496 8685 AC013457,AF128186,CH471103,AF035819,AK297030,AK301407,AK313139,BC016004,CB529479,CR590986,CR595006,CR603381,CR614449,CR623903,NM_006770 NP_006761,AAX88875,AAD41064,EAW95207,AAC08800,BAG59558,BAG62941,BAG35958,AAH16004,Q4ZG40,Q9UEW3,ABM83749,ABM83759,ABM87079 Hs.67726 SCARA2 OTTHUMP00000203591|macrophage receptor MARCO|scavenger receptor class A member 2|scavenger receptor class A, member 2 protein-coding 732241 MARK1 MAP/microtubule affinity-regulating kinase 1 633320,1580863 18492799,17192257,16803889,16710414,16344560,15489334,14702039,14594945,14517247,12477932,12435421,12387894,10819331,10737616,10090741,9832145,9771888,9735171,8999860,8631898,7931292,7706316,18254724,15778465,19090997,14976552,9108484,19615732,20158304,20379614 633320 4139 NM_018650,AC096640,AL592406,CH471100,AB040910,AF154845,AK027493,AK098103,AK295506,AK314614,AL512724,BC068608,BC113869,BC114478,CA412112,DB308514 NP_061120,CAH72462,CAH72463,EAW93298,EAW93299,EAW93300,EAW93301,EAW93302,BAA96001,AAF72103,BAB55152,BAG58425,CAC21661,AAI13870,AAI14479,Q9H051,Q9P0L2 Hs.497806 KIAA1477|MARK|MGC126512|MGC126513 serine/threonine-protein kinase MARK1 protein-coding 1344457 MARK2 MAP/microtubule affinity-regulating kinase 2 This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 14976552,15324659,8274451,19530321,19011111,18760999,18315603,18045904,18005242,17234589,17192257,17081983,16980613,16964243,16803889,16707567,16554811,16472737,16344560,16257959,15492257,15489334,15365179,15302935,15158914,14676191,12477932,11433294,10516437,9730619,9373149,9108484,8938448,8889548,8125298,7613050,18292230,17353931,14743216,15778465,11257119,15161933,16551573,19553522,19615732,19945424,20194617 2011 NM_017490,NM_004954,NM_001039469,NM_001163296,NM_001163297,AP003780,CH471076,U73647,AB188493,AB271694,AF387638,AI524222,AK225766,AK290339,AK307858,AY562187,AY562188,BC008771,BC084540,BM719402,BM724555,BT007342,BX383836,CR602633,DA855402,X97630,Z25427,AP006289 NP_059672,NP_004945,NP_001034558,NP_001156768,NP_001156769,EAW74174,EAW74175,EAW74176,EAW74177,EAW74178,EAW74179,EAW74180,BAD37141,BAF96440,AAK82368,BAF83028,AAT67601,AAT67602,AAH08771,AAH84540,AAP36006,CAA66229,CAA80914,Q5DNC5,Q5DNC6,Q7KZI7,ABM81619,ABM84802 Hs.567261 EMK-1|EMK1|MGC99619|PAR-1|Par1b ELKL motif kinase 1|OTTHUMP00000218338|OTTHUMP00000218339|OTTHUMP00000218340|OTTHUMP00000218343|PAR1 homolog|Ser/Thr protein kinase PAR-1B|serine/threonine protein kinase EMK|serine/threonine-protein kinase MARK2 protein-coding 1353156 MARK3 MAP/microtubule affinity-regulating kinase 3 1580863 10557092,11333986,11551930,11741534,15161933,15324660,19615732,20214879,20534768,9278512,16169070,17353931,19079262,17726107,17672918,17192257,16980613,16968750,16344560,15489334,15319445,15182702,14760703,14594945,12941695,12879020,12477932,11433294,9543386,9533022,8816492,18254724,16189514,15778465,20554715 4140 NM_001128918,NM_001128919,NM_002376,NM_001128920,NM_001128921,CH471061,AB209542,AF170723,AF387637,AF465413,AK124459,AK296643,AK307448,BC024773,BX161395,BX248250,CR598572,DA707357,DQ368336,M80359,AL133367,M83780,U64205 NP_001122390,NP_001122391,NP_002367,NP_001122392,NP_001122393,EAW81812,EAW81813,EAW81814,EAW81815,EAW81816,EAW81817,EAW81818,EAW81819,BAD92779,AAD51631,AAK82367,AAL69982,BAG59243,AAH24773,CAD61882,CAD62578,ABD15137,AAA59991,AAC15093,P27448,Q59FB8,Q86TT8,Q86U11,ABM82641,ABM85818 Hs.35828 CTAK1|KP78|PAR1A C-TAK1|ELKL motif kinase 2|EMK-2|MAP/microtubule affinity-regulating kinase 3|cdc25C-associated protein kinase 1|protein kinase STK10|ser/Thr protein kinase PAR-1|serine/threonine-protein kinase p78 protein-coding 1321076 MARK4 MAP/microtubule affinity-regulating kinase 4 633320,1580863 20634891,15009667,14594945,14676191,11326310,12735302,18254724,17192257,14702039,12477932,11347906,9108484,16169070,18482256,19019082,19615732,19759416,20460622,14976552,16344560,17924967,19245655 633320 57787 AC005781,NM_031417,AC005581,AC006126,CH471126,AB049127,AB058763,AB073663,AB088047,AK027619,AK074578,AK075272,AY057448,AY120867,BC009049,BC071948,CQ784017,DB100014,NM_001199867 NP_113605,AAC33487,EAW57332,EAW57333,EAW57334,EAW57335,EAW57336,BAB39380,BAB47489,BAE45729,BAC03375,BAB55238,BAC11070,BAC11510,AAL23683,AAM55491,AAH09049,AAH71948,O75271,Q3LID9,Q6IPE9,Q8N2N5,Q96GZ3,Q96L34,AAI66620,CAF86971,NP_001186796 Hs.34314 FLJ12177|FLJ90097|KIAA1860|MARK4L|MARK4S|MARKL1|MARKL1L|Nbla00650 MAP/microtubule affinity-regulating kinase 4|MAP/microtubule affinity-regulating kinase like 1|MAP/microtubule affinity-regulating kinase-like 1|MARK4 serine/threonine protein kinase|putative protein product of Nbla00650 protein-coding 1313280 MARS methionyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene belongs to the class I family of tRNA synthetases. [provided by RefSeq] 1580863 8921912,17353931,18029348,19064003,15489334,14702039,12729910,12477932,11714285,10913161,10791971,10448063,9878398,9373149,8125298,6585969,10200289,11732605,16344560,19913121,20628086,16055448,16169070,19064571,8052601,8078941,8188258,8449960,9278442,20877624 4141 HH961788,AC022506,CH471054,AK092986,AK122956,AK222767,AK290857,AK293945,AK303349,BC002384,BC006328,BC011639,BC011849,BC015011,BC065187,BT007338,CR626104,D84224,X94754,Z49216,NM_004990,DA489707 CBX51367,CAA89153,P56192,Q8NAB3,NP_004981,EAW97019,EAW97020,BAC04011,BAG53819,BAD96487,BAF83546,BAG57322,BAG64411,AAH02384,AAH06328,AAH11639,AAH11849,AAH15011,AAP36002,BAA95668,CAA64381 Hs.632707 FLJ35667|METRS|MRS|MTRNS cytosolic methionyl-tRNA synthetase|methionine tRNA ligase 1, cytoplasmic|methionine--tRNA ligase|methionine-tRNA synthetase|methionine-trna synthetase|methionyl-tRNA synthetase, cytoplasmic protein-coding 1349073 MARS2 methionyl-tRNA synthetase 2, mitochondrial 1580863 15274629,15815621,15489334,14702039,12477932,20877624 92935 NM_138395,AC073058,CH471063,AB107013,AK098121,AK301252,BC009115,BC026361,BC040934,BC126294,DC342319 NP_612404,AAX93244,EAW70170,BAC92749,BAC05238,BAG62819,AAH09115,AAH40934,AAI26295,Q96GW9,ADR83080 Hs.116602 MetRS|mtMetRS methionine tRNA ligase 2, mitochondrial|methionine--tRNA ligase 2|methionine-tRNA ligase|methionine-tRNA synthetase 2 (mitochondrial)|methionine-tRNA synthetase 2, mitochondrial|methionine-trna synthetase 2 (mitochondrial)|methionyl-tRNA synthetase, mitochondrial|mitochondrial methionine--tRNA ligase|mitochondrial methionyl-tRNA synthetase protein-coding 1353944 MARVELD1 MARVEL domain containing 1 737633,1580863 15489334,15164054,12477932,19364627,8889548 737633 83742 AL355315,AK025996,AK027093,BC004995,BC062544,CR596454,CH471066,AF325259,AI347102,CF125014,NM_031484 EAW49903,Q9BSK0,NP_113672 Hs.209614 FLJ22343|FLJ23440|GB14|MARVD1|MGC4415|MRVLDC1|RP11-548K23.8|bA548K23.8 MARVEL (membrane-associating) domain containing 1|putative MARVEL domain-containing protein 1 protein-coding 1345417 MARVELD2 MARVEL domain containing 2 Tight junctions (TJ) prevent leakage of solutes through the paracellular pathway of epithelial cells. MARVELD2, or tricellulin (TRIC), is an integral membrane protein concentrated at the vertically oriented TJ strands of tricellular contacts (Ikenouchi et al., 2005 [PubMed 16365161]).[supplied by OMIM] 737633,1580863 18084694,17186462,17081983,16365161,15951569,15538632,15489334,14702039,12477932,20533305,10409428,19535456,19538290,19915590,20033365,20164257 737633 153562 NM_001038603,AC144587,AC145145,AC145146,CH471137,AB219936,AB219937,AK055094,AK292962,BC033689,DQ682656,DQ682657,DQ682658,BG943115,NG_017201 NP_001033692,EAW51277,EAW51278,BAE54513,BAE54514,BAB70853,BAF85651,AAH33689,ABG89104,ABG89105,ABG89106,Q8N4S9 Hs.726520 DFNB49|FLJ30532|MARVD2|MRVLDC2|Tric MARVEL (membrane-associating) domain containing 2|MARVEL domain-containing protein 2|OTTHUMP00000222225|tricellulin protein-coding 1347121 MARVELD3 MARVEL domain containing 3 1580863 20164257,16341674,15616553,15489334,15146197,14702039,12477932,17207965,20028514 91862 NM_001017967,NM_052858,AC009097,CH471166,AI420156,AK056842,AK292185,AK307585,BC005052,BC011893,BC013376,BM742281,BX109314,BX348391,CN277354,CN311659,HI574246,HI574248 NP_001017967,NP_443090,EAW59227,EAW59228,EAW59229,BAB71294,BAF84874,AAH05052,AAH11893,AAH13376,Q96A59,Q9BSH2,ADQ31751,CBX47612,CBX47613 Hs.513706 FLJ32280|MARVD3|MRVLDC3 MARVEL (membrane-associating) domain containing 3|MARVEL domain-containing protein 3 protein-coding 731461 MAS1 MAS1 oncogene The structure of the MAS1 product indicates that it belongs to the class of receptors that are coupled to GTP-binding proteins and share a conserved structural motif, which is described as a '7-transmembrane segment' following the prediction that these hydrophobic segments form membrane-spanning alpha-helices. The MAS1 protein may be a receptor that, when activated, modulates a critical component in a growth-regulating pathway to bring about oncogenic effects. [provided by RefSeq] 737797,1581849,1581931,1580863,2313799,2316776 20361351,19461648,17207965,3329713,3419518,8661154,19240061,19164480,18636314,16611642,15489334,14574404,12829792,12477932,11967280,10785460,3708691,20674894,2197067,1725048,20592051 737797,1581849,1581931,2313799,2316776 4142 NM_002377,AL035691,CH471051,BC069142,BC069581,BC110454,CR542261,M13150 ADQ32918,NP_002368,CAB72444,EAW47609,EAW47610,EAW47611,AAH69142,AAH69581,AAI10455,CAG47057,AAA36199,P04201 Hs.99900 MAS|MGC119966 proto-oncogene Mas protein-coding 1351772 MAS1L MAS1 oncogene-like 1580863 18029348,1723144,15489334,14574404,12477932,11551509,18636314,19851445 116511 NM_052967,AL035542,AL645927,AL662869,BX000531,BX247947,BX927133,CH471081,CR388393,CR759768,CR759956,S78653,BC069127,BC069345,BC095511,BC101176,BC101177 NP_443199,CAB44503,CAI18057,CAI17488,CAI18459,CAM26164,CAQ10419,EAX03197,CAQ10827,CAQ09891,CAQ06741,AAB21255,AAH69127,AAH69345,AAH95511,AAI01177,AAI01178,P35410,Q502V9,Q5SUN5 Hs.533297 MAS-L|MGC119987|MRG|dJ994E9.2 MAS-R|MAS1-like|mas-related G protein-coupled MRG|mas-related G-protein coupled receptor MRG protein-coding 2292062 MAS1LP MAS1 oncogene-like pseudogene 19851445 646366 NG_009738,AL645927,AL662869,BX000531,BX247947,BX927133,CR388393,CR759768,CR759956 MAS1LP pseudo 733853 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) The Ra-reactive factor (RARF) is a complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria. Alternate splicing of this gene results in multiple transcript variants encoding two RARF components that are involved in the mannan-binding lectin (MBL) pathway of complement activation. Two of the isoforms are cleaved into two chains which form a heterodimer linked by a disulfide bond. The encoded proteins are members of the trypsin family of peptidases. [provided by RefSeq] 1580863 21035106,8018603,7759119,11752456,19170196,19423540,19564340,19607727,19625176,19667088,19692168,20053996,20406964,20438785,21054788,20817870,18596036,12421953,10946292,12538697,11532276,17182967,10639434,10925294,11485744,18842294,18676680,18456010,18029348,17938215,17444953,16112196,16102832,12601245,12477932,12370377,11907111,10878362,10679061,10475605,9719152,8921412,8240317,11527969,16712791,19917686,20673767 5648 AI278088,AI828640,AV686235,DC423174,NR_033519,NM_001879,NM_139125,NM_001031849,AB007617,AC007920,CH471052,D61695,AF284421,AK129893,AK291157,AK291686,AK300663,AK304334,AL134380,AL137646,AL708781,BC039724,BC106945,BC106946,BX641029,BX647237,CB162101,CR749615 NP_001870,NP_624302,NP_001027019,BAA89206,EAW78150,EAW78151,EAW78152,EAW78153,BAA34864,AAK84071,BAF83846,BAF84375,BAG62349,BAG65179,CAB70856,AAH39724,AAI06946,AAI06947,CAE46018,CAI46037,CAH18409,P48740,Q5HYM1,Q6MZL2,Q9NSY8 Hs.89983 CRARF|CRARF1|DKFZp686I01199|FLJ26383|MAP1|MASP|MASP3|MAp44|MGC126283|MGC126284|PRSS5|RaRF OTTHUMP00000209929|OTTHUMP00000209930|Ra-reactive factor serine protease p100|complement factor MASP-3|complement-activating component of Ra-reactive factor|mannan-binding lectin serine protease 1|mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)|mannose-binding lectin-associated serine protease 1|mannose-binding protein associated serine protease-1|mannose-binding protein-associated serine protease|serine protease 5 protein-coding 1342525 MASP1P1 mannan-binding lectin serine peptidase 1 pseudogene 1 12601245,10475605 246050 NG_002640,AB036334 mannan-binding lectin serine protease 1 pseudogene 1 pseudo 1606320 MASP2 mannan-binding lectin serine peptidase 2 The Ra-reactive factor (RARF) is a complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria. Alternate splicing of this gene results in two transcript variants encoding two RARF components that are involved in the mannan-binding lectin pathway of complement activation. The longer isoform is cleaved into two chains which form a heterodimer linked by a disulfide bond. The encoded proteins are members of the trypsin family of peptidases. [provided by RefSeq] 12421953,10946292,12538697,9087411,11532276,17182967,10639434,10925294,19405982,19344414,19275590,19234189,19050632,18849076,18842294,18638656,18596574,18582923,18400978,18295674,18221301,18177377,17984804,17971300,17709141,17614162,17565323,17303612,17252003,17096357,17045845,16710414,16395704,16112196,16040602,16029433,15746044,15364579,15117939,12904520,12477932,11907111,11426320,10878362,10679061,10393416,10330290,10092804,9777418,8018603,20817870,19913121,20593422,20628086,19307021,19423540,19737459,19775369,19817957,19948975,20002787,20042521,20150204,20406964,20438785 10747 CH471130,CS250107,CS250110,CS251161,CS251164,Y18286,Y18287,AB008047,AK290823,BC052299,BC067359,BC080556,X98400,Y09926,Y18281,Y18282,Y18283,Y18284,AL109811,NM_006610,NM_139208,NG_007289,AB033742,AF321558,AF321562,AJ297949,AJ300188 CAI22102,CAI22103,EAW71674,CAJ58371,CAJ58372,CAJ58410,CAJ58411,CAB50732,CAB50733,CAB50734,CAB50735,BAA78616,BAF83512,CAA67050,CAA71059,CAB50728,CAB50729,CAB50730,CAB50731,O00187,AAI56087,AAI56887,NP_006601,NP_631947,BAA85658,BAA85659,AAG50274,AAG50275,CAC17138,CAC17139,CAC15568 Hs.655645 MAP19|MASP-2|MASP1P1|sMAP MBL-associated plasma protein of 19 kD|MBL-associated serine protease 2|mannan-binding lectin serine peptidase 1 pseudogene 1|mannan-binding lectin serine protease 1 pseudogene 1|mannan-binding lectin serine protease 2|mannose-binding protein-associated serine protease 2|small MBL-associated protein protein-coding 1354102 MAST1 microtubule associated serine/threonine kinase 1 1580863 17081983,16344560,15489334,15057824,12614677,12477932,11441184,10404183,10231032,8889548,15951562,20029029 22983 NM_014975,AC020934,AD000092,CH471106,AB023190,AK297553,BC017485,BC026709,BC027985,BM681304,CR609181,CR622253,DA769770 NP_055790,AAB51171,EAW84317,EAW84318,EAW84319,BAA76817,BAG59946,AAH27985,Q9Y2H9 Hs.227489 KIAA0973|SAST|SAST170 microtubule-associated serine/threonine-protein kinase 1|syntrophin associated serine/threonine kinase|syntrophin-associated serine/threonine-protein kinase protein-coding 1312089 MAST2 microtubule associated serine/threonine kinase 2 15951562,16159897,19635844,19961423,10646847,12117771,17081983,16710414,15489334,15308666,15146197,14764729,14760703,14702039,12477932,12421765,11099500,10404183,9872452,8902215,8889548,8246979,17353931 23139 NM_015112,AL358075,AL603882,AL603888,AL645480,AL772251,CH471059,AB018350,AB047005,AK027123,AK055291,AK096519,AK309510,AL137594,AL540100,AL833919,BC006166,BC015816,BC065499,BM675011,CN297081,CR607753 NP_055927,CAI21705,CAI16217,CAI16562,CAH73244,EAX06948,EAX06949,BAA34527,BAB40778,BAG51495,BAG53313,CAB70833,CAD38775,AAH06166,AAH15816,AAH65499,Q6P0Q8,Q9NT11 Hs.319481 FLJ39200|KIAA0807|MAST205|MTSSK|RP4-533D7.1 OTTHUMP00000009698|microtubule associated testis specific serine/threonine protein kinase|microtubule-associated serine/threonine-protein kinase 2 protein-coding 1316095 MAST3 microtubule associated serine/threonine kinase 3 1580863 15951562,16344560,15057824,10737800,9628581,20562859,18650832 23031 NM_015016,AC005793,AC007192,AC020904,AC093054,AB011133,BI907332,BQ340083,DA134568 NP_055831,AAC62830,AAD22670,BAA25487,O60307 Hs.466184 KIAA0561 microtubule-associated serine/threonine-protein kinase 3 protein-coding 1601915 MAST4 microtubule associated serine/threonine kinase family member 4 17086981,16344560,14702039,12477932,9205841,20009918,20379614 375449 AK309559,AY439222,AY830839,BC003646,BC018692,BC033215,BM967134,BX648796,BX648980,DA452178,NM_198828,NM_015183,AC008872,AC008920,AC016634,AC034208,AC044799,AC092349,AC092373,AC113365,CH471137,AB002301,AK057601,AK131421,AK296707,AK299538,AK299706,NM_001164664 BAG61607,AAR13901,AAW52510,AAH33215,O15021,Q6T2V4,NP_942123,NP_055998,EAW51319,EAW51320,EAW51321,BAA20762,BAB71532,BAG59300,BAG61485,NP_001158136 Hs.595458 DKFZp686E18148|DKFZp686N1467|FLJ16540|FLJ33039|KIAA0303 OTTHUMP00000201718|OTTHUMP00000201719|OTTHUMP00000201720|OTTHUMP00000201724|OTTHUMP00000201725|microtubule-associated serine/threonine-protein kinase 4|similar to microtubule associated testis specific serine/threonine protein kinase protein-coding 1319386 MASTL microtubule associated serine/threonine kinase-like 1580863,1598951 16964243,16344560,15489334,15164054,14702039,12890928,12477932,10891439,10521306,9373149,8125298,20818157,16385451 1598951 84930 NM_032844,AL160291,CH471072,AK027719,AK074804,AK123004,AK225319,AW408392,AW675108,BC009107,BC013704,BU430288,CR592673,DA524606,DB150802,NG_016987,NM_001172303,NM_001172304 NP_116233,CAI16908,CAI16909,CAI16910,EAW86064,EAW86065,EAW86066,EAW86067,BAB55321,BAC11218,AAH09107,Q96GX5,NP_001165774,NP_001165775 Hs.276905 FLJ14813|RP11-85G18.2|THC2 greatwall protein kinase|microtubule-associated serine/threonine-protein kinase-like protein-coding 732753 MAT1A methionine adenosyltransferase I, alpha This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq] 1599915,1300048,1359039,1580863 16385451,20146079,20201926,20335551,7271238,8314764,1772450,19161160,19048631,16341674,15935930,15489334,15164054,12477932,10677294,9482646,9175157,9042912,8770875,8393662,7560086,7213623,3812486,1683972,1056281,20675163,19913121,20628086,20634891 1599915,1359039 4143 NM_000429,NG_008083,AL359195,CH471142,AK026931,AK290820,BC018359,BM738684,BX496326,CR600407,D49357,X69078 NP_000420,CAI13695,CAI13696,EAW80396,EAW80397,BAF83509,AAH18359,BAA08355,CAA48822,Q00266,ABM81999,ABM85182 Hs.282670 MAT|MATA1|SAMS|SAMS1 MAT 1|MAT-I/III|S-adenosylmethionine synthase isoform type-1|S-adenosylmethionine synthetase isoform type-1|adoMet synthase 1|adoMet synthetase 1|methionine adenosyltransferase 1|methionine adenosyltransferase I/III protein-coding 737506 MAT2A methionine adenosyltransferase II, alpha 1300048,1359040,1580863 7665609,19161160,19048631,19048023,18423013,18041713,17631143,16413417,15815621,15489334,14530285,12671891,12660248,12477932,9703951,7213623,1426236,19019082,19913121,20615890,20628086,20634891,19683694 1359040 4144 BC001854,BI549760,CR595364,CR596873,DQ083239,X68836,AC016753,CH471053,AK291126,NM_005911,AK293841,AK297758,AK297797,AK303877,AK308591,AK308758,AK309338,AK316411,BC001686 AAH01854,AAY85355,CAA48726,P31153,NP_005902,AAY24339,EAW99511,EAW99512,EAW99513,EAW99514,BAF83815,BAG57239,BAG60107,BAG60136,BAG64814,BAH14782,AAH01686 Hs.516157 MATA2|MATII|SAMS2 MAT 2|MAT-II|OTTHUMP00000204973|S-adenosylmethionine synthase isoform type-2|S-adenosylmethionine synthetase isoform type-2|adoMet synthase 2|adoMet synthetase 2|methionine adenosyltransferase 2 protein-coding 1606800 MAT2B methionine adenosyltransferase II, beta The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 19913121,20628086,20634891,11230166,11076863,9055605,7213623,10644686,11256614,19048631,19027726,18753136,18698677,18045590,18041713,16381901,15489336,14702039,12975309,12878157,12671891,12477932,11337507,20421296,19683694,20877624 27430 NM_013283,AC112205,AY033822,CH471062,AB073390,AF113225,AF182814,AJ243721,AK096178,AK291919,AK312365,AL136664,AU279489,AW966728,AY358695,BC005218,BC066645,BC093030,CR596069,CR596100,CR622441,DQ395260,NM_182796,DQ413182,DQ413183,AK294069 ABD59011,NP_877725,NP_037415,EAW61517,EAW61518,EAW61519,EAW61520,BAE45720,AAG39296,AAF28477,CAB56837,BAF84608,BAG35283,CAB66599,AAQ89058,AAH05218,AAH66645,AAH93030,ABD85290,Q9NZL9,CAL37975,CAL38612,BAH11664 Hs.54642 MAT-II|MATIIbeta|MGC12237|Nbla02999|SDR23E1|TGR MAT II beta|beta regulatory subunit of methionine adenosyltransferase|dTDP-4-keto-6-deoxy-D-glucose 4-reductase|methionine adenosyltransferase 2 subunit beta|putative protein product of Nbla02999|short chain dehydrogenase/reductase family 23E, member 1 protein-coding 69108 MATK megakaryocyte-associated tyrosine kinase The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq] 1580863 8999872,8288563,7530249,18029348,18292939,17934522,17492661,16707123,16574955,16344560,16189514,16168623,15890649,15748901,15489334,15329911,15302935,15057824,14702039,12782282,12477932,12429987,12122014,12063569,10329710,10080957,9373149,9255603,9171348,9038210,8134117,8125298,7936664,7536744,7516063,1722201 4145 NM_002378,NM_139354,NM_139355,AC005777,CH471139,S75164,S75168,AK055395,AK225834,AK315646,AL137754,BC000114,BC003109,BG396388,BM925586,BQ109562,CR610757,CR614369,CR619542,DA592994,L18974,S71669,X77278 NP_002369,NP_647611,AAC62843,EAW69284,EAW69285,EAW69286,EAW69287,AAC60645,BAG51511,BAG38013,CAB70906,AAH00114,AAH03109,NP_647612,AAA16703,AAB30995,CAA54493,P42679,Q16176,Q9NST8 Hs.631845 CHK|CTK|DKFZp434N1212|HHYLTK|HYL|HYLTK|Lsk|MGC1708|MGC2101 Csk-homologous kinase|Csk-type protein tyrosine kinase|HYL tyrosine kinase|hematopoietic consensus tyrosine-lacking kinase|hydroxyaryl-protein kinase|leukocyte carboxyl-terminal src kinase related|megakaryocyte-associated tyrosine-protein kinase|protein kinase HYL|tyrosine kinase MATK|tyrosine-protein kinase CTK|tyrosylprotein kinase protein-coding 1352772 MATN1 matrilin 1, cartilage matrix protein This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq] 1580863 9083061,2246248,18985072,17176459,16710414,16303743,15552564,12175111,11896063,11882030,10196235,7989046,20729554,12477932,15075323,18951430,19834535,20092731,20739701 4146 NM_002379,AL137857,CH471059,M55675,M55682,AK075519,AK312949,BC131710,CR604652,CR622727,M55683,NG_027941 NP_002370,CAI19322,EAX07642,EAX07643,EAX07644,AAB38702,BAG52161,BAG35790,AAI31711,AAA63904,P21941,Q8WVV1,AAI60064 Hs.150366 CMP|CRTM cartilage matrix protein|matrilin-1 protein-coding 1313328 MATN2 matrilin 2 This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11124542,18386166,18328806,16713569,16401863,16303743,15489334,14702039,12975309,12164922,11896063,11852232,9083061,12180907,12477932,19730683,19834535,19913121,20628086 4147 NM_002380,NM_030583,AP002906,AP003352,CH471060,AI434413,AK027775,AK075489,AK289721,AL137638,AL833931,AY358895,BC010444,BC016394,BX649093,CB988661,CR594902,CR600647,U69263 NP_002371,NP_085072,EAW91764,EAW91765,EAW91766,EAW91767,EAW91768,BAB55358,BAC11648,BAF82410,CAB70853,CAD38787,AAQ89254,AAH10444,AAH16394,AAC51260,O00339,Q8N2G3,Q96AA0 Hs.189445,Hs.660622 matrilin-2 protein-coding 1312907 MATN3 matrilin 3 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq] 1599920,1599919,1580863 9350998,18205203,17881354,20077500,10486325,15075323,18759284,19840795,20201926,20237151,17517694,15459972,15121775,17311924,16769693,16641049,16344560,16287128,16199550,15694129,15523498,14994237,14729835,12736871,11896063,11479597,9847074,9799608,9287130 1599920,1599919 4148 NM_002381,NG_008087,AC079145,CH471053,AA461483,AJ001047,AJ224741,AK290856,AU121718,BC139907,CA447528,EU541440,Y13341 NP_002372,AAX88937,EAX00837,CAA04501,CAA12110,BAF83545,AAI39908,ACB29772,CAA73785,O15232,Q4ZG02 Hs.656199 DIPOA|EDM5|HOA|OADIP|OS2 matrilin-3 protein-coding 1320229 MATN4 matrilin 4 This gene encodes a member of von Willebrand factor A domain containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. The specific function of this gene product has not yet been determined. Three alternatively spliced variants have been described. [provided by RefSeq] 1580863 9027493,15075323,9827539,18005044,16303743,14702039,12477932,11896063,11780052,11279097 8785 NM_030592,NM_030590,NM_003833,AL021578,CH471077,AJ007581,AK027323,AK074495,AK074593,AK074595,AK074597,AW134923,BC131763,BC141811,BC143625,BC151219 NP_085095,NP_085080,NP_003824,CAB39280,CAB46380,CAI21077,EAW75866,EAW75867,EAW75868,CAA07569,BAG51302,BAG51974,BAC11081,BAC11083,AAI31764,AAI41812,AAI51220,O95460 Hs.278489 FLJ14417|HE6WCR54 OTTHUMP00000031671|OTTHUMP00000031672|OTTHUMP00000031673|matrilin-4 protein-coding 1350110 MATR1 matrin F/G 1 4024 736833 MATR3 matrin 3 The protein encoded by this gene is localized in the nuclear matrix. It may play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 69882,1580863 17643375,19170196,19625176,19692168,9757574,9110174,8619474,2180926,17353931,2033075,19344878,19240791,18676680,18618731,17658460,17081983,16713569,16189514,15489334,15302935,14702039,12927788,12840015,12477932,12469345,11525732,10931946,9872452,19836620,9630250,9837826,19562669,20029029 69882 9782 NG_012846,AJ224166,AJ224169,DC401586,NM_001194954,NM_001194955,NM_001194956,NR_036535,NM_199189,NM_018834,AC011404,CH471062,AB018266,AF117236,AK001388,AK057645,AK293952,AK299399,AK307872,AK309195,AK316420,AL117541,AY007157,BC015031,BC036498,BU187803,BX510145,BX537365,BX647153,CR597092,CR749210,CR749625,M63483,CR936615,AA233906,DC333260 NP_001181883,NP_001181884,NP_001181885,NP_954659,NP_061322,EAW62114,EAW62115,EAW62116,EAW62117,BAA34443,AAF17217,BAG50899,BAG57327,BAG61383,BAH14791,AAG02007,AAH15031,CAH18067,CAH18419,P43243,Q5CZA7,Q68D11,Q68E03,Q9H4N1,CAI56758,ABM85263,ABW03706 Hs.268939,Hs.595110 DKFZp686K0542|DKFZp686K23100|KIAA0723|MGC9105|MPD2|VCPDM OTTHUMP00000159531|OTTHUMP00000223737|OTTHUMP00000223738|OTTHUMP00000223739|OTTHUMP00000223740|OTTHUMP00000223742|OTTHUMP00000223743|matrin-3|vocal cord and pharyngeal weakness with distal myopathy protein-coding 1606258 MAVS mitochondrial antiviral signaling protein Double-stranded RNA viruses are recognized in a cell type-dependent manner by the transmembrane receptor TLR3 (MIM 603029) or by the cytoplasmic RNA helicases MDA5 (MIM 606951) and RIGI (ROBO3; MIM 608630). These interactions initiate signaling pathways that differ in their initial steps but converge in the activation of the protein kinases IKKA (CHUK; MIM 600664) and IKKB (IKBKB; MIM 603258), which activate NFKB (see MIM 164011), or TBK1 (MIM 604834) and IKKE (IKBKE; MIM 605048), which activate IRF3 (MIM 603734). Activated IRF3 and NFKB induce transcription of IFNB (IFNB1; MIM 147640). For the TLR3 pathway, the intermediary molecule before the pathways converge is the cytoplasmic protein TRIF (TICAM1; MIM 607601). For RIGI, the intermediary protein is mitochondria-bound IPS1 (Sen and Sarkar, 2005 [PubMed 16239922]).[supplied by OMIM] 20962078,21068253,19351494,19380491,19546225,19591957,19609254,19631370,19644511,19690333,19701189,19881509,19902255,19914245,20032188,20044805,20127681,20154210,20159242,16177806,12761501,19193783,19028691,18977754,18927075,18756281,18692023,18550535,18307765,18207245,17911629,17093192,16984921,16964243,16858409,16731946,16707574,16585524,16344560,16341674,16301520,16239922,16153868,16127453,16125763,15489334,14702039,12477932,11780052,10574462,20538852,18984593,20661427,20711230,20554965,16914100,20595579,11002417,20699220,20877624 57506 NM_020746,AL109804,AL353194,CH471133,CQ871280,AB033097,AB097003,AB232371,AK023799,AK092705,AK095370,AK123956,AK130992,AK291785,AK296897,AL390136,AL833736,BC000073,BC028962,BC040719,BC040930,BC044952,BC052583,BC062310,BC063593,BM834250,BX649084,CR613265,DB219666,DQ167126,DQ174270,DQ181928,EF467323,EF467324 NP_065797,CAI18851,CAI11041,EAX10481,EAX10482,CAH56821,BAA86585,BAC77356,BAE79738,BAB14684,BAC85734,BAC85473,BAF84474,BAG59455,AAH44952,ABA54890,AAZ80417,ABA19229,ABR24161,ABR24162,Q7Z434,ACE87672,ACE86983 Hs.570362 CARDIF|DKFZp547C224|DKFZp666M015|FLJ27482|FLJ35386|FLJ38051|FLJ41962|IPS-1|IPS1|KIAA1271|MGC3260|VISA CARD adapter inducing interferon beta|CARD adapter inducing interferon-beta|CARD adaptor inducing IFN-beta|IFN-B promoter stimulator 1|interferon beta promoter stimulator protein 1|interferon-beta promoter stimulator protein 1|mitochondrial anti-viral signaling protein|mitochondrial antiviral-signaling protein|putative NF-kappa-B-activating protein 031N|virus-induced signaling adapter variant 1b|virus-induced signaling adaptor variant 1a|virus-induced-signaling adapter protein-coding 731306 MAX MYC associated factor X The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Multiple alternatively spliced transcript variants have been described for this gene but the full-length nature for some of them is unknown. [provided by RefSeq] 17157259,17274640,17418410,2006410,8425218,19260139,19086036,17217336,17082780,17081983,16475822,16140957,20936779,16352593,16201965,16189514,15809730,15592455,15489334,15302589,15258910,15121849,14759258,12584560,12553908,12551947,12477932,12391307,12004135,11602341,11535131,11031250,10611234,10593926,10229200,9680483,9199327,9184233,9115440,8861962,8521822,8479534,8426752,8247525,7479834,1594250,1566084,1557420,1323849,11208609,10918583,9528857,17353931,10319872,9708738,11283613,11509179,10597290,15960975,17072308,17468742,18029348,19862010,20214878,16596619,16705173,16878156,19578763 4149 NM_145114,AL139022,CH471061,X66867,AI652319,AI655674,AI917842,AK290130,AK290929,AK292189,AK292630,AK303412,AL833643,AY353088,BC003525,BC004516,BC013669,BC025685,BC027924,BC036092,CR542191,CR600362,CR607503,CR619150,CR620686,M64240,X60287,NM_145116,NM_197957,NM_145112,NM_002382,NM_145113 P61244,Q14803,Q6V3B1,Q8IYC6,Q8TAX8,Q96CY8,NP_660092,NP_660089,EAW80898,EAW80899,EAW80900,EAW80901,EAW80902,EAW80903,EAW80904,EAW80905,EAW80906,CAA47337,CAA47338,CAA47339,BAF82819,BAF83618,BAF84878,BAF85319,BAG64465,AAQ57210,AAH03525,AAH04516,AAH13669,AAH25685,AAH27924,AAH36092,CAG46988,AAA36200,AAA36201,CAA42827,NP_660088,NP_932061,NP_660087,NP_002373 Hs.285354 MGC10775|MGC11225|MGC18164|MGC34679|MGC36767|bHLHd4|bHLHd5|bHLHd6|bHLHd7|bHLHd8|orf1 class D basic helix-loop-helix protein 4|helix-loop-helix zipper protein|max|myc-associated factor X|protein max protein-coding 1315360 MAZ MYC-associated zinc finger protein (purine-binding transcription factor) 1580863 17902047,17237427,16888022,16648491,15528467,15067082,14765995,12528113,12509857,12477932,12270922,10727212,10493829,10448092,9790757,9685418,8889548,8831693,8626793,1567856,19583771,19615732,17927842,11527412,1502157,19242545,19074642,19028685 4150 NM_001042539,NM_002383,AB017335,AC002301,AC009133,CH471238,AB209061,AF489858,AK074720,BC039057,BC041629,BM695402,CR590673,CR601236,CR603028,CR604629,CR607928,CR617493,CR620008,CR620810,CR621035,CR623056,CR624746,D85131,EF059746,FJ532357,L01420,M93339,M94046,U33819 NP_001036004,NP_002374,BAA33064,AAC08710,EAW79994,EAW79995,EAW79996,EAW79997,EAW79998,EAW79999,EAW80000,EAW80001,EAW80002,EAW80003,BAD92298,AAN03800,AAH41629,BAA12728,ABN80996,ACS26236,AAL31317,AAB04121,P56270,Q59GP8,Q8IUI2,Q8NFN7,Q8WZ46,Q9UJ31 Hs.23650 PUR1|Pur-1|SAF-1|SAF-2|SAF-3|ZF87|ZNF801|Zif87 MAZI|myc-associated zinc finger protein|purine-binding transcription factor|serum amyloid A activating factor 1|serum amyloid A activating factor 2|transcription factor Zif87|zinc finger protein 801|zinc-finger protein, 87 kilodaltons protein-coding 1354197 MB myoglobin This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 1582385,1582429,1582427,1582393,1582388,1582428,1580863 20668762,20531416,20873231,20124401,18029348,19541931,19005161,17996904,17883274,17605115,17311997,15644316,15601759,15489334,15485667,15461802,15226631,15226628,15048578,14506721,12760310,12745799,12477932,12030657,12006163,11452891,10779502,10591208,9791540,9722578,8007964,7895732,6571704,6326055,5805522,5555226,5555219,5540041,5285572,4627044,2989088,2342104,477257,16712791,19523464,19650765 1582385,1582429,1582427,1582393,1582388,1582428 4151 NM_203377,NM_203378,NM_005368,NG_007075,AL022334,AL049747,CH471095,DQ003030,M10090,M14602,M14603,X00371,X00372,X00373,AK300657,AK314057,BC014547,BC018001,BQ925917,BQ956082,BU585249,CB140824,CR456516,CR541949 NP_976311,NP_976312,NP_005359,CAI21837,EAW60065,EAW60066,EAW60067,AAX84516,AAA59595,CAA25109,BAG62343,BAG36764,AAH14547,AAH18001,CAG30402,CAG46747,P02144,Q8WVH6,CAK54547,CAK54846,ABM84605,ABM87049 Hs.727630 MGC13548|PVALB OTTHUMP00000197921|OTTHUMP00000197922|OTTHUMP00000197935|OTTHUMP00000197936|myoglobin protein-coding 1314332 MBD1 methyl-CpG binding domain protein 1 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain, two to three cysteine-rich (CXXC) domains, and some differences in the COOH terminus. All five transcript variants repress transcription from methylated promoters; in addition, variants with three CXXC domains also repress unmethylated promoter activity. MBD1 and MBD2 map very close to each other on chromosome 18q21. [provided by RefSeq] 10454587,12665582,10866667,9774669,18668384,18666890,18445260,17634428,17428788,17066076,16998846,16757475,16696318,16432238,16284366,16094384,15777793,15691849,15489334,15327775,15231748,15081425,14728690,14610093,14555760,12788925,12770674,12711603,12697822,12646234,12477932,12384770,12124384,10648624,10581239,10441743,10187827,9373149,9207790,8125298,19666599,20062064,20211142,20819778 4152 NM_015847,NM_015845,NM_002384,NM_015844,NM_015846,AC090246,AF120979,AF120980,AF120981,AF120982,CH471096,AB209765,AF072241,AF078830,AF078831,AF078832,AF078833,AJ564845,AK225889,AK225948,AK291519,AK295401,AK300759,AK302004,BC033242,BC047353,DB458244,DC403953,EF488685,Y10746 NP_056723,NP_056670,NP_002375,NP_056669,NP_056671,AAD50371,EAW62962,EAW62963,EAW62964,EAW62965,EAW62966,EAW62967,BAD93002,AAC68870,AAD51442,AAD51443,AAD51444,AAD51445,CAD92308,BAF84208,BAG58353,BAG62425,BAG63407,AAH33242,ABP02056,CAA71735,Q9UIS9 Hs.405610 CXXC3|PCM1|RFT CXXC-type zinc finger protein 3|OTTHUMP00000163504|OTTHUMP00000163506|OTTHUMP00000163507|methyl-CpG binding domain protein 1 isoform PCM1|methyl-CpG-binding domain protein 1|methyl-CpG-binding protein MBD1|protein containing methyl-CpG-binding domain 1|the regulator of fibroblast growth factor 2 (FGF-2) transcription protein-coding 1312368 MBD2 methyl-CpG binding domain protein 2 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. [provided by RefSeq] 1580863 17688412,17634428,17360956,17353267,17081983,16998846,16951344,16428440,16168120,16052033,15701600,15489334,15456747,15112265,14688029,14610093,12665568,12646234,12588985,12477932,12388720,12183469,12177048,12124384,11960994,11756549,11710831,11553631,11297506,11102443,10950960,10947852,10471499,10444591,10050851,9804427,9790534,9610721,14633992,15674330,18414412,10441743,11984006,9774669,19124506,19019634,18952593,18931530,18830263,18676680,16415179,17049487,19170196,19625176,19690890,19692168,20453000,16410616,16980624,19454010,19661918,20300195 8932 NM_003927,NM_015832,AC090666,AC093462,AF120988,AF120989,AF120994,CH471096,AF039701,AF072242,AF072246,AF072252,AL110266,BC032638,BE540652,BQ228712,CR592850,CR592999,CR603954,CR608921,CR615628,CR615715 NP_003918,NP_056647,AAD56597,AAD56596,EAW62997,EAW62998,EAW62999,AAC18050,AAC68871,AAC68875,CAH10725,AAH32638,O60535,Q69YZ5,Q9UBB5 Hs.25674 DKFZp586O0821|DMTase|NY-CO-41 demethylase|methyl-CpG-binding domain protein 2|methyl-CpG-binding protein MBD2 protein-coding 1316562 MBD3 methyl-CpG binding domain protein 3 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). However, unlike the other family members, MBD3 is not capable of binding to methylated DNA. The predicted MBD3 protein shares 71% and 94% identity with MBD2 (isoform 1) and mouse Mbd3. MBD3 is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. MBD3 mediates the association of metastasis-associated protein 2 (MTA2) with the core histone deacetylase complex. 1580863 17049487,17827154,18500823,18602768,18644863,19041848,20004753,9774669,12183469,17452452,16428440,15701600,15489334,15456747,15057824,14702039,12705869,12477932,12354758,12124384,11836615,11756549,11331609,11102443,10947852,10471500,10444591,10441743,9804427,9790534,2470348,15454082 53615 NM_003926,AC005943,CH471139,AF072247,AK001474,AK021532,AK290882,BC000872,BC009372,BC009438,BC018784,BC032443,BC043619,CR618268,X58233 NP_003917,AAC72104,EAW69477,EAW69478,EAW69479,EAW69480,EAW69481,AAC68876,BAG50920,BAF83571,AAH09372,AAH09438,AAH18784,AAH32443,AAH43619,CAA41191,O95983,Q8WV36 Hs.178728 methyl-CpG-binding domain protein 3|methyl-CpG-binding protein MBD3 protein-coding 1317930 MBD3L1 methyl-CpG binding domain protein 3-like 1 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq] 1580863 15489334,15456747,12920132,12504854,12477932 85509 NM_145208,AC008734,CH471106,AB451462,AY038022,BC112058,BC112064 NP_660209,EAW83996,BAG70276,AAK72591,AAI12059,AAI12065,Q8WWY6 Hs.133912 MBD3L|MGC138263|MGC138269 MBD3-like protein 1|methyl-CpG-binding domain protein 3-like 1 protein-coding 1601828 MBD3L2 methyl-CpG binding domain protein 3-like 2 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq] 15701600,12504854,12477932 125997 NM_144614,AC010606,CH471139,AF503919 NP_653215,AAM28154,Q8NHZ7,AAI72325,EAW69051 Hs.567667 MBD3-like protein 2|methyl-CpG-binding domain protein 3-like 2 protein-coding 1313885 MBD4 methyl-CpG binding domain protein 4 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MBD4 may function to mediate the biological consequences of the methylation signal. In addition, MBD4 has protein sequence similarity to bacterial DNA repair enzymes and thus may have some function in DNA repair. Further, MBD4 gene mutations are detected in tumors with primary microsatellite-instability (MSI), a form of genomic instability associated with defective DNA mismatch repair, and MBD4 gene meets 4 of 5 criteria of a bona fide MIS target gene. [provided by RefSeq] 1580863,2316846 10097147,12702765,14667819,9774669,10583946,11937636,18029348,19469655,19403629,18676680,18519584,18495292,18162445,17360956,17285135,17143486,17049487,16831587,16803845,15899845,15489334,15205355,12926109,12477932,12430186,12220634,11836615,11056019,10930409,10545939,10499592,10441743,9823339,18452947,19170196,19395862,19625176,19692168,20100009,20226869,20453000,20522537,20731661,20574454,20644561 2316846 8930 NM_003925,AF120999,AF494057,AL449212,CH471052,AF072250,AF114784,AF532602,AK303013,AK312878,AM180876,BC011752,BC034463,CR450305,CR592808,CR619777 NP_003916,AAD50374,AAM00008,EAW79251,EAW79252,EAW79253,EAW79254,EAW79255,AAC68879,AAD22195,AAP97338,BAG64144,CAJ55826,AAH11752,CAG29301,O95243,Q2MD36 Hs.35947 MED1 3,N(4)-ethenocytosine glycosylase|G/5-fluorouracil mismatch glycosylase with biphasic kinetics|G/T mismatch glycosylase|G/U mismatch glycosylase|OTTHUMP00000215522|OTTHUMP00000215694|methyl-CpG-binding domain protein 4|methyl-CpG-binding endonuclease 1|methyl-CpG-binding protein MBD4|mismatch-specific DNA N-glycosylase|putative methyl-CpG binding protein protein-coding 1344111 MBD5 methyl-CpG binding domain protein 5 1580863 17847001,15489334,14702039,12529184,12477932,12421765,20700456,20936779,10819331,16344560,19904302 55777 NM_018328,AC016731,CH471058,AB040894,AK001975,AK055079,AK090496,BC014534,BC150264,CA449443,EF542797,AC019226,AC019070,AC018465,AC079391,AC092605,AK304424,DA240785,NG_017003 NP_060798,AAY14912,EAX11550,EAX11551,EAX11552,BAA95985,BAA92013,BAG52172,AAI50265,ABQ18300,Q9P267,BAG65253 Hs.458312 FLJ11113|FLJ30517|KIAA1461|MRD1 OTTHUMP00000197369|OTTHUMP00000197370|methyl-CpG-binding domain protein 5|methyl-CpG-binding protein MBD5 protein-coding 1322301 MBD6 methyl-CpG binding domain protein 6 1580863 20700456,11572484,16169070,14702039,12529184,12477932 114785 NM_052897,AC022506,CH471054,AB067474,AK056399,AK093078,AK296990,AL834230,BC034295,BC040149,BC051370,BC065530,CR627478 NP_443129,EAW97024,EAW97025,EAW97026,BAB67780,BAB71176,BAC04045,BAG59530,CAD38908,AAH65530,CAH10678,Q6AHW5,Q6P0P0,Q96DN6 Hs.524523 KIAA1887 methyl-CpG-binding domain protein 6|methyl-CpG-binding protein MBD6 protein-coding 1314857 MBIP MAP3K12 binding inhibitory protein 1 1580863 18838386,10801814,18029348,16189514,15489334,12477932,11042152,1495496,17207965,19060904 51562 NM_016586,NM_001144891,AL137226,CH471078,AA761503,AB038523,AF208857,AK293473,AK315290,BC005197,BC016821,BX248287,CR590283,CR594524,CR610521 NP_057670,NP_001138363,EAW65862,EAW65863,EAW65864,EAW65865,BAA94083,AAF64271,BAG56966,BAG37697,AAH05197,AAH16821,CAD62615,Q9NS73,ADQ31677 Hs.368647 MAP3K12-binding inhibitory protein 1|MAPK upstream kinase-binding inhibitory protein|MUK-binding inhibitory protein protein-coding 1343390 MBL1P1 mannose-binding lectin (protein A) 1, pseudogene 1 20210993,16115813,15716605,15458704,9501312 8512 NR_002724,AL512662,AF019382 Hs.102310 COLEC3P|MBL1P1 pseudo 735547 MBL2 mannose-binding lectin (protein C) 2, soluble (opsonic defect) This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq] 1582151,1582150,1582153,1582154,1582155,1580863,4889447,4889459,4889436,4889467,4889478,4889479,4889496,4889579,4889421,4889155,4889443,4889477,4889425,4889433,4889448,4889453,4889458,4889456,4889476,4889156,4889446,4889484,4889439,4889577,4889452,4889483 7707811,7634089,2590164,2477486,2450948,1675710,1672848,1303250,12487819,16094691,15572157,15117456,12941144,20127985,19352197,19917506,7982896,1458688,10725420,15838797,15829302,15829288,15790942,15753758,15742161,15730518,15728497,15723707,15697204,15674393,15653690,15647440,15645196,15627619,15592292,15535834,15516675,15489334,15488604,15480986,15472209,15467537,15381817,15381182,15306844,15295097,15292002,15254284,15249448,15161763,15148337,15144709,15127191,15101708,15061663,14994386,14764589,14739370,14669753,14582818,14564351,12957407,12934195,12921293,12918709,12847552,12770793,12761563,12715245,12699957,12672193,12651071,12648279,12641410,12640191,12595908,12560567,12517417,12492252,12485445,12477932,12472676,12439623,12393699,12375325,12370377,12175909,12047967,11986203,11906616,11891230,11804586,11781711,11737072,11712863,11564800,11560994,11487077,11393663,11361219,11302870,11274270,11255386,11196698,11196679,11145046,11023480,10888598,10878362,10578050,10447262,10368295,9799711,9743385,9570553,9476117,9087411,8206524,8062452,2477488,12421953,18596036,11549596,11532276,18029348,10639434,10925294,1304173,19527514,19481774,19480845,19477015,19468207,19432958,19430499,19425063,19416237,19408100,19380618,19371855,19366862,19344414,19336370,19328949,19307021,19286845,19276308,19275921,19273450,19258923,19252378,19238444,19199550,19185543,19169708,19161617,19143554,19139195,19104434,19094203,19086549,19083122,19073229,19064572,19057812,19056797,19050632,19035512,19021583,19019335,18988385,18957309,18952132,18950864,18936436,18927129,18847375,18831943,18823346,18818748,18782274,18754287,18729778,18715406,18700861,18676680,18641104,18637753,18637104,18633131,18612667,18611155,18602696,18602571,18592362,18582923,18562462,18552214,18543229,18498240,18496832,18495592,18494378,18486762,18478332,18455525,18452612,18415846,18400978,18396436,18374983,18368489,18361938,18361935,18348874,18347304,18336595,18334024,18322223,18317236,18292811,18288881,18231631,18221301,18214570,18211540,18209939,18194386,18192915,18177377,18174230,18166320,18091754,18082567,18052966,18031556,17990579,17942372,17942155,17922403,17921115,17898783,17896801,17875183,17872904,17869647,17855170,17848669,17846289,17845414,17763324,17703412,17678865,17665457,17659761,17653692,17652092,17651383,17634432,17626901,17610322,17610319,17567900,17565323,17559949,17554527,17552055,17513174,17496053,17484222,17482281,17480019,17478467,17470593,17442954,17442667,17439930,17419286,17380431,17357060,17337399,17314117,17311505,17303612,17289451,17275645,17266113,17259116,17222001,17202308,17195187,17178888,17174748,17157384,17133182,17096357,17092257,17083312,17083310,17072973,17071626,17045187,17044201,17014624,16960176,16955210,16953214,16951387,16916656,16912583,16911830,16856624,16827883,16801331,16792667,16751976,16750996,16738667,16729310,16721783,16681863,16677572,16553818,16522396,16517152,16500704,16487239,16476012,16439442,16429424,16385529,16369192,16320344,16256117,16231358,16220211,16216673,16214215,16208516,16200716,16185324,16178865,16170752,16152689,16115848,16112196,16110781,16105157,16102832,16099912,16099048,16083697,16046196,16034120,16029433,16006058,15994813,15989776,15888042,15857180,15855341,15853952,8666845,8267903,20833838,11485744,15148336,16385451,18727690,19170196,19423540,19465640,19466271,19467940,19501100,19517215,19540295,19557622,19580835,19590686,19606686,19625176,19657091,19692168,19703233,19709662,19711212,19715891,19716183,19729601,19738092,19789190,19790141,19796526,19796822,19804807,19817957,19827946,19833760,19840833,19854517,19879913,19891773,19896716,19939454,19959685,19969625,20022898,20038440,20042521,20056178,20065005,20068595,20078874,20087947,20110521,20132924,20150204,20172753,20182871,20193030,20196868,20207250,20237496,20298391,20331378,20331735,20334849,20351616,20356797,20374367,20406964,20408832,20438785,20442634,20443743,20452482,20453525,20463618,20499118,20503287,20504205,20522590,19775369,19853314,21054788,20079790,20642202,20605050,20848568,20881011,20887383,20930093,21045008,21054877,21088049,19913121,20570631,20573835,20592033,20593422,20595266,20598754,20610664,20618520,20628086,20636396,20650301,20673868,20682603,20688922,20693349,20712489,20712490,20732365,20799037,20140243 1582151,1582150,1582153,1582154,1582155,4889447,4889459,4889436,4889467,4889478,4889479,4889579,4889421,4889155,4889443,4889477,4889425,4889433,4889448,4889453,4889458,4889456,4889476,4889156,4889446,4889484,4889439,4889577,4889452,4889483 4153 NG_008196,AB025350,AF080508,AF080510,AF482699,AF482700,AL583855,AL731550,CH471083,CS251180,DQ217939,EU596574,X15954,Y16576,Y16577,Y16578,Y16579,Y16580,Y16581,Y16582,AF360991,AY826184,BC069338,NM_000242,BC096179,BC096180,BC096181,BC096182,X15422 NP_000233,BAB17020,AAC31937,AAN39274,AAN39275,CAI17084,EAW54148,EAW54149,CAJ58412,ABB01009,ACC62880,CAA34079,CAB56044,CAB56120,CAB56045,CAB56121,CAB56122,CAB56123,CAB56124,AAK52907,AAV80468,AAH69338,AAH96179,AAH96180,AAH96181,AAH96182,CAA33462,P11226,Q5SQS3,Q9HCS8 Hs.499674 COLEC1|HSMBPC|MBL|MBP|MBP1|MGC116832|MGC116833 MBP-C|collectin-1|mannan-binding lectin|mannose-binding lectin 2, soluble (opsonic defect)|mannose-binding protein C|mannose-binding protein c (liver) protein-coding 1602638 MBLAC1 metallo-beta-lactamase domain containing 1 12690205,12477932 255374 NM_203397,AC073842,CH236956,CH471091,AW449216,AW772344,BC031288,BQ441096 NP_981942,EAL23849,EAW76587,AAH31288,A4D2B0 Hs.632319 MGC39819 OTTHUMP00000210552|metallo-beta-lactamase domain-containing protein 1 protein-coding 1601715 MBLAC2 metallo-beta-lactamase domain containing 2 14702039,12477932 153364 NM_203406,AC093510,CH471084,AI288430,AK096942,AK128603,AK289778,BC038230,BI918374,CR594652,CR620210,CR749512 NP_981951,EAW95979,BAC04908,BAG54698,BAF82467,AAH38230,CAH18329,Q68D91 Hs.64004 DKFZp686P15118|MGC46734 beta-lactamase-like|metallo-beta-lactamase domain-containing protein 2 protein-coding 1606580 MBNL1 muscleblind-like (Drosophila) 10970838,19095965,19043415,16946708,16920640,16394256,16273094,15961406,15546872,15257297,14722159,12477932,11929853,11590133,11433021,9455477,8889548,17942744,17846170,16717059,19345584,19805260,18335541,20519504 4154 NM_207292,NM_021038,NM_207293,NM_207297,NM_207296,NM_207295,NM_207294,AC026347,AC106722,CH471052,AB007888,AF255334,AF395876,AF497718,AF497719,AI971426,AJ308400,AK297133,AK304089,AK307420,AW204030,BC005296,BC043493,BC050535,BM686432,BQ223290,BX537491,CR603447,CR749454,Y13829,AF401998 NP_997175,NP_066368,NP_997176,NP_997180,NP_997179,NP_997178,NP_997177,EAW78775,EAW78776,EAW78777,EAW78778,EAW78779,EAW78780,EAW78781,EAW78782,EAW78783,BAA24858,AAF76138,AAK82889,AAK94915,AAP30726,AAP30727,CAC83727,BAG59637,BAG64995,AAH43493,AAH50535,CAH18290,CAA74155,Q68DD0,Q86UV8,Q86UV9,Q86VM6,Q96P92,Q96RE3,Q9NR56,ABZ92514 Hs.201858,Hs.725347 DKFZp686P06174|EXP|EXP35|EXP40|EXP42|KIAA0428|MBNL OTTHUMP00000214227|OTTHUMP00000214229|OTTHUMP00000214230|OTTHUMP00000214231|OTTHUMP00000214232|OTTHUMP00000214233|OTTHUMP00000214234|OTTHUMP00000214235|OTTHUMP00000214236|muscleblind-like protein 1|triplet-expansion RNA-binding protein protein-coding 1315628 MBNL2 muscleblind-like 2 (Drosophila) This gene encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq] 19095965,16273094,15489334,15257297,15057823,12477932,11991713,11929853,16946708,19177353,20379614 10150 AY101770,BC020418,BC020430,BC032426,BC104038,BC104039,BC104040,BE246602,CA429672,CR608033,CR749802,NM_207304,AL161430,AL442067,CH471085,AF061261,AF339782,AF491866,AK291727,AK304699,AK315844,NM_144778 CAM13083,BAF98735,AAM50085,AAH20418,AAH32426,AAI04039,AAI04040,AAI04041,CAH18662,O95205,Q5VZF2,Q9P1F2,ABZ92286,NP_659002,NP_997187,CAH73649,CAI39495,CAI39497,EAX08968,EAX08969,EAX08970,EAX08971,AAC67242,AAM09798,BAF84416,BAG65469 Hs.657347 DKFZp781H1296|MBLL|MBLL39|MGC120625|MGC120626|MGC120628|PRO2032|RP11-128N14.1 OTTHUMP00000178763|muscleblind-like protein 1|muscleblind-like protein 2|muscleblind-like protein-like 39 protein-coding 1603984 MBNL3 muscleblind-like 3 (Drosophila) 18029348,19095965,17102799,15772651,15489334,15257297,14702039,12477932,12297108,11929853,10970838,16344560 55796 NM_133486,AL050310,CH471107,AB077698,AB077699,AF467070,AF491305,AJ427918,NM_018388,AJ427919,AK002178,AK300248,AL133625,AY072692,AY372211,BC042090,BC074775,BC074776,CR624180,CR601260,CR627122,AI633721,AK307194,AL161442,AW665447,BU569439,DA832176,DB023330,DC380677,NG_016324,NM_001170701,NM_001170702,NM_001170703,NM_001170704 NP_060858,NP_597846,CAI43101,CAI43102,CAI43103,CAI43104,CAI43105,CAI43106,CAI43107,CAI43108,EAX11778,EAX11779,EAX11780,BAB85648,BAB85649,AAL87670,AAM09533,CAD20869,CAD20870,BAA92124,BAG62014,CAB63751,AAL65661,AAQ75759,AAH42090,AAH74775,AAH74776,Q8IUR4,Q9NUK0,ABZ92515,NP_001164172,NP_001164173,NP_001164174,NP_001164175 Hs.105134,Hs.596347 CHCR|FLJ11316|FLJ97142|MBLX|MBLX39|MBXL Cys3His CCG1-required protein|OTTHUMP00000024041|OTTHUMP00000024043|OTTHUMP00000024044|muscleblind-like X-linked protein|muscleblind-like protein 3 protein-coding 1322766 MBOAT1 membrane bound O-acyltransferase domain containing 1 MBOAT1 shares structural similarity with a superfamily of membrane-bound O-acetyltransferases that transfer organic compounds, usually fatty acids (e.g., cholesterol, diacylglycerol, palmitoyl), onto hydroxyl groups of membrane-embedded targets (Dauwerse et al., 2007 [PubMed 17440500]).[supplied by OMIM] 737633 18287005,17890783,17440500,15489334,14702039,14574404,12477932,18821565,20339536 737633 154141 NM_001080480,AL008627,AL158198,AL355139,AB305043,AK093994,AK131269,AK296857,AK304748,BC045695,BC150650,BC150652 NP_001073949,CAI19512,CAH71585,CAI20913,BAF93899,BAC04264,BAD18447,BAG59421,BAG65506,AAI50651,AAI50653,Q6ZNC8,AAI56594 Hs.377830 LPEAT1|MGC44669|OACT1|dJ434O11.1 1-acylglycerophosphoserine O-acyltransferase|LPLAT 1|LPSAT|O-acyltransferase (membrane bound) domain containing 1|O-acyltransferase domain-containing protein 1|lyso-PS acyltransferase|lysophosphatidylethanolamine acyltransferase 1|lysophosphatidylserine acyltransferase|lysophospholipid acyltransferase 1|membrane-bound O-acyltransferase domain-containing protein 1|o-acyltransferase (membrane bound) domain containing 1 protein-coding 1314050 MBOAT2 membrane bound O-acyltransferase domain containing 2 737633 17890783,16303743,15489334,14702039,12477932,9110174,8619474 737633 129642 NM_138799,AC012495,AC112723,CH471053,AB305044,AF052107,AK027321,AK074779,AK295907,AK309818,AK315881,BC016005,BC146871,BC157827 NP_620154,EAX01013,BAF93900,BAC85105,BAC11204,BAH12219,BAF98772,AAH16005,AAI46872,AAI57828,Q6ZWT7 Hs.467634,Hs.593538 FLJ14415|FLJ90298|LPCAT4|OACT2 1-acylglycerophosphate O-acyltransferase|1-acylglycerophosphoethanolamine O-acyltransferase|LPAAT|LPEAT|LPLAT 2|O-acyltransferase (membrane bound) domain containing 2|O-acyltransferase domain-containing protein 2|lyso-PA acyltransferase|lyso-PE acyltransferase|lysophosphatidic acid acyltransferase|lysophosphatidylethanolamine acyltransferase|lysophospholipid acyltransferase 2|membrane-bound O-acyltransferase domain-containing protein 2|o-acyltransferase (membrane bound) domain containing 2 protein-coding 1602605 MBOAT4 membrane bound O-acyltransferase domain containing 4 18443287,19479831,19628676,21035823 619373 NM_001100916,AC026979,CH471080,AF359269,EU518495 NP_001094386,EAW63467,AAK43717,ACB05873,Q96T53 Hs.627194 FKSG89|GOAT|OACT4 O-acyltransferase (membrane bound) domain containing 4|O-acyltransferase domain-containing protein 4|ghrelin O-acyltransferase|membrane-bound O-acyltransferase domain-containing protein 4 protein-coding 1353967 MBOAT7 membrane bound O-acyltransferase domain containing 7 This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 18772128,18094042,16344560,14702039,12477932,10941842,8702217,18931347 79143 NM_024298,NM_001146056,NM_001146082,NM_001146083,AC012314,CH471135,CU151838,CU457734,AF211969,AK298689,AK311493,AW014416,BC002512,BC003164,BC006309,BC015857,BU633996,CR592172,CR594504,CR610174,DA338950,EU016381,S82470,AK055908,AK122789,AK123290,AK293199 NP_077274,NP_001139528,NP_001139554,NP_001139555,EAW72199,EAW72200,EAW72201,EAW72202,CAQ09590,CAQ09592,CAP19119,CAP19120,CAP19121,CAP19122,BAG60849,AAH02512,AAH03164,AAH06309,AAH15857,ABV66273,AAB37433,Q96N66,BAB71043,BAG56739 Hs.467279 BB1|FLJ41296|LENG4|LPIAT|LRC4|MBOA7|OACT7|hMBOA-7 1-acylglycerophosphatidylinositol O-acyltransferase|LPLAT 7|O-acyltransferase domain-containing protein 7|OTTHUMP00000069335|OTTHUMP00000069336|OTTHUMP00000197707|bladder and breast carcinoma-overexpressed gene 1 protein|h-mboa-7|leukocyte receptor cluster (LRC) member 4|leukocyte receptor cluster member 4|lyso-PI acyltransferase|lysophosphatidylinositol acyltransferase|lysophospholipid acyltransferase 7|malignant cell expression-enhanced gene/tumor progression-enhanced|membrane-bound O-acyltransferase domain-containing protein 7 protein-coding 736262 MBP myelin basic protein The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq] 1358773,1358488,1580863 19468823,20471030,20629634,16712791,19110265,19053745,19034380,19014520,18802067,18720029,18713991,18663124,18543229,18284662,18067995,17823288,17690840,17622942,17415991,17351112,17259179,17081983,16900754,16871440,16842822,16713569,16441258,16412431,16387849,16216881,16079912,15728454,15489334,15009677,14743429,14714495,14702039,14594813,14579272,12965257,12939427,12618862,12477932,12377379,12237860,12101123,11964256,11940329,11875070,11864968,11683387,11641781,11402450,11295122,11152681,11124993,11080454,10980603,10523312,10390541,10383403,10339476,9873047,9792705,9782128,9207191,2434243,7504278,19385666,19372141,19154657,9136767,9020143,8889548,8786845,8544862,7685161,7574672,7544282,6201481,6083474,5128665,4924231,4108501,4099924,2472816,2467009,2466844,2449425,2442403,2437795,2427738,2426402,2425357,2414074,2413024,1689270,11500515,9155018,9628874,8798720,7665586,10947953,10910078,15797222,8647104,10346818,12760422,15380617,19423540,19663312,19690890,19692707,19950581,20406964,20438785 1358773,1358488 4155 NM_001025101,NM_001025092,NM_001025090,NM_002385,NM_001025081,NM_001025100,AC018529,AC093330,CH471117,CQ846348,CS255751,L18862,L18864,L18866,L41657,M63599,X17286,AB208986,AK074315,AK093588,AK094611,AK095121,AK098402,AK098513,AK122594,AK123433,AK124830,AK126858,AK128770,AK128788,AK289893,AK293922,AK314553,BC008749,BC030093,BC065248,BC068550,BC080654,BC101771,BC101773,BC130034,BC143348,BC143350,BG766942,BM977768,BU430656,CB153535,CB156561,CR536534,CR541919,CR594138,CR596562,CR597532,CR598393,CR608490,CR620021,CR627018,L18865,M13577,M20009,M30047,M30515,M30516,N20370,HI574052,HI574054,HI574056,HI574058,HI574060,HI574062,HC679210 NP_001020272,NP_001020263,NP_001020261,NP_002376,NP_001020252,NP_001020271,EAW66592,EAW66593,EAW66594,EAW66595,EAW66596,EAW66597,EAW66598,EAW66599,EAW66600,CAH10321,CAJ75954,AAA72008,AAA72009,AAA72011,AAC41944,AAA59560,CAA35179,BAD92223,BAG53615,BAC85616,BAC85961,BAG54728,BAG54734,BAF82582,BAG57303,AAH08749,AAH65248,AAH80654,AAI01772,AAI01774,AAI43349,AAI43351,CAG38771,CAG46717,CAH10359,AAA72010,AAA59562,AAA59561,AAA59559,AAA59564,AAA59563,P02686,Q6ZVA1,CBX47515,CBX47516,CBX47517,CBX47518,CBX47519,CBX47520,CBL86565 Hs.551713 MGC99675 Golli-MBP|Golli-MBP; myelin basic protein|OTTHUMP00000163776|OTTHUMP00000174387|OTTHUMP00000174388|myelin A1 protein|myelin basic protein|myelin membrane encephalitogenic protein protein-coding 1351867 MBS1 Moebius syndrome 1 1870098 4156 1348518 MBS2 Moebius syndrome 2 8872479 7880 1346632 MBS3 Moebius syndrome 3 10441582 22811 1348935 MBTD1 mbt domain containing 1 1580863 19841675,15146197,12477932 54799 NM_017643,AC005839,AC006141,CH471109,AK000062,AK124061,AL133577,BC034364,BC101736,BQ022382,BU195532,CN310792 NP_060113,EAW94560,EAW94561,EAW94562,BAA90919,BAC85763,AAH34364,AAI01737,Q05BQ5 Hs.656803 FLJ20055|FLJ42067|MGC126785|SA49P01 MBT domain-containing protein 1|OTTHUMP00000197374 protein-coding 732575 MBTPS1 membrane-bound transcription factor peptidase, site 1 The encoded protein has a central role in the regulation of lipid metabolism in cells. It is a sterol-regulated subtilisin-like serine protease that cleaves ER membrane-bound sterol regulatory element-binding proteins (SREBPs), a reaction that initiates the two-step proteolytic process by which transcriptionally active fragments of SREBPs are released from the membrane for translocation to the nucleus. The gene product is an integral membrane ER protein, with the bulk located in the ER lumen. It is synthesized as an inactive preproprotein that is self-activated by an intramolecular cleavage that generates the mature protein. [provided by RefSeq] 1580863,2317203 9809072,18029348,18660489,18400865,17898072,17867930,16973377,15489334,15299016,14702039,12477932,11821395,11756446,11163209,11152678,10944850,10644685,10619424,10428865,10428864,9990022,9139737,9070434,7788527,19913121,20558613,20628086 2317203 8720 NM_003791,AC040169,CH471114,AK054744,AK091212,AK291773,AK299067,AL133583,AL701753,BC026330,BC114555,BC114961,BM048055,BX472644,CR590684,D42053 NP_003782,EAW95505,EAW95506,BAG52308,BAF84462,BAG61133,CAB63727,AAI14556,AAI14962,BAA07653,Q14703 Hs.75890 KIAA0091|MGC138711|MGC138712|PCSK8|S1P|SKI-1 endopeptidase S1P|membrane-bound transcription factor protease, site 1|membrane-bound transcription factor site-1 protease|site-1 protease|subtilisin/kexin isozyme-1|subtilisin/kexin-isozyme 1 protein-coding 1342985 MBTPS2 membrane-bound transcription factor peptidase, site 2 This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response. 1580863,2317203 14702039,9659902,19361614,18660489,15772651,15299016,12477932,11850408,11795864,11163209,10805775,10419520,9847074,20672378,19689518 2317203 51360 NM_015884,NG_012797,CH471074,U72788,U73479,AF019612,AK056736,AK292933,AK307143,AK312474,AW204540,AW664372,BC036465,BX489533,CR624755,DC338559 NP_056968,EAW98982,AAD08631,AAD08632,AAC51937,BAF85622,O43462 Hs.443490 FLJ32174|IFAP|S2P OTTHUMP00000023047|SREBPs intramembrane protease|endopeptidase S2P|membrane-bound transcription factor protease, site 2|membrane-bound transcription factor site-2 protease|sterol regulatory element-binding proteins intramembrane protease protein-coding 1323826 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq] 1600618,1600619,1580863 18484624,9571181,7581459,19493000,19484507,19452503,19340012,19339902,19320745,19269164,19208107,19194882,19077144,19017395,19016241,18983535,18946769,18839200,18803811,18795926,18761657,18717860,18711112,18683857,18657399,18637131,18636124,18510673,18483556,18402696,18368129,18292087,18282185,18222116,18094732,18079748,18067130,18006116,17960564,17960121,17952075,17916200,17616515,17570052,17496785,17487313,17434924,17397031,17371441,17317724,17316231,17279550,17222061,17130136,17072629,16988943,16982779,16914085,16877522,16864968,16809487,16721784,16645598,16601669,16567973,16463023,16420249,16417234,16081629,15998953,15994880,15993512,15979202,15972726,15957185,15889046,15726415,15650023,15582585,15489334,15482480,15470082,15358786,15305821,15221796,15210908,15159314,15105175,15009732,15009725,14757863,14702039,12950734,12930311,12883368,12876664,12859622,12851329,12839583,12817591,12753400,12663858,12653999,12620396,12579416,12477932,12473109,12453185,12439754,12244039,12204775,12177778,12165561,12006619,11933208,11750130,11720436,11710950,11707265,11689486,11532853,11511307,11500806,11500805,11499678,11487744,11487574,11454772,11442765,10816645,10462496,10101176,9861445,9665397,9640562,9373149,9302268,9058374,9017363,8990005,8894704,8706868,8605020,8463333,8458079,8188275,8125298,8098743,7949735,1516719,1325670,10233018,19264528,19329486,19338054,19558415,19571053,19571821,19578364,19585506,19656326,19679055,19710684,19743876,19755124,19790046,19924138,19932942,20043015,20189796,20301115,20378664,20129839,20519635,20876876,19737927,12036966,20539244,11305330,11254446,11179997,11041375,10942578,10885670,20720566,20797666,20831872,20970119,21052032,20585627,20588308,20629734,20670983,20721616,20802377 1600618,1600619 4157 AB241541,AB241542,AB241543,AB241545,AB241546,AB241547,AB241549,AF529884,AY363621,AY363622,AY363623,AY363624,AY363625,AY363626,AY363627,NG_012026,AB026663,AB241540,AB241544,AB241548,AB241550,AB241551,AC092143,AF153431,AF153432,AF153433,AF153434,AF153435,AF153436,AF153437,AF263461,AF326275,AF514787,AY046528,AY046529,AY225228,AY363619,AY363620,CH471184,NM_002386,X65634,AK024232,AK054666,AK225902,BC007856,BC080622,BE388038,BE410897,CF528726,X67594 AAO21073,AAQ62971,AAQ62972,AAQ62973,AAQ62974,AAQ62975,AAQ62976,AAQ62977,BAE94307,BAE94308,BAE94309,BAE94311,BAE94312,BAE94313,BAE94315,Q1JUL6,Q1JUL8,Q1JUL9,Q1JUM0,Q1JUM2,Q1JUM3,Q1JUM4,Q6UR92,Q6UR93,Q6UR94,Q6UR95,Q6UR96,Q6UR97,Q6UR98,Q86YW1,NP_002377,BAE94306,BAE94310,BAE94314,BAE94316,BAE94317,AAD41349,AAD41350,AAD41351,AAD41352,AAD41353,AAD41354,AAD41355,AAK58525,AAK01121,AAM44861,AAL05887,AAL05888,AAO67713,AAQ62969,AAQ62970,EAW66676,CAA46588,BAG51277,BAG51408,AAH07856,AAH80622,CAA47865,Q01726,Q1JUL4,Q1JUM5,Q6UR99,Q6URA0,ABM84193,ABM87596 Hs.513829 CMM5|MGC14337|MSH-R|SHEP2 MC1-R|melanocortin receptor 1|melanocyte-stimulating hormone receptor|melanotropin receptor protein-coding 1348934 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. [provided by RefSeq] 1580863,1600745,1600747 1325670,17456795,17223989,16497811,16260430,15982783,15879363,15654338,15489334,15240582,15171714,15062562,14671214,12620396,12530626,12477932,12456795,12213892,10971458,9218248,9194567,9167964,9058374,9020063,8636348,8463333,8390157,8276410,8227361,8094489,9175632,19453261,19095219,19024088,18981183,18840636,18838498,18818285,18551113,18505908,18492762,18359160,18356748,18197087,17959886,17877367,17712720,17595257,19329486,19372376,19558534,19574343,19723618,19903795,20022931,20042918,20403506,12036966,20734064,20634197 1600745,1600747 4158 NG_011819,NM_000529,AB065915,AP001086,AY225229,CH471113,X65633,AK289381,AK315319,BC069074,BC094710,BC104169,BC104170,Y10259 NP_000520,BAC06130,AAO67714,EAX01503,CAA46587,BAF82070,BAG37722,AAH69074,AAH94710,AAI04170,AAI04171,Q01718 Hs.248144 ACTHR|MGC125798 ACTH receptor|MC2 receptor|OTTHUMP00000162512|adrenocorticotropic hormone receptor|adrenocorticotropin receptor|corticotropin receptor protein-coding 1345990 MC3R melanocortin 3 receptor This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq] 1625179,1580863,1625178 19329486,19656839,19743876,20144537,20468064,20539302,15927146,8175743,8463333,19367093,19091795,19058789,18996102,18614155,18551113,18420963,18291523,18231126,18180070,17964765,17639020,17482720,17413091,17192297,17041250,16430209,16314751,16123355,15636422,15597110,15582585,15489334,15470082,15292330,15276649,12532156,12477932,12161058,12142547,12077332,12047904,11889220,11780052,11747427,11397906,11140838,9893984,9658201,9276742,9237634,9213373,9058374,8957262,8276410,7949735,12036966,18577758,17207965,20538960,20734064,20972733,21047972,21050724,20602615 1625179,1625178 4159 NM_019888,NG_012200,AL139824,CH471077,CS248086,L06155,AY227893,BC069105,BC069591,BC069599,BC096702,BC096737,BC098169,BC098351 NP_063941,CAC15480,EAW75566,CAJ56570,AAC13541,AAO72726,AAH69105,AAH69599,AAH96702,AAH96737,AAH98169,AAH98351,P41968,ADQ31958 Hs.248018 BMIQ9|MC3|MC3-R|OB20|OQTL Obesity quantitative trait locus|melanocortin receptor 3 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H protein-coding 733058 MC4R melanocortin 4 receptor 1626222,1600752,1600756,1580863,1600755,1331525,1600750,1357925 12036966,15927146,19737927,19668254,20600126,16279363,16278267,16231025,16114870,16083993,16081629,16032553,16030156,15951321,15865442,15821099,15805150,15597110,15585384,15533382,15489963,15489334,15486053,15470082,15466016,15448103,15292469,15215606,15126516,15037865,14973783,14764818,14764812,14671178,14633862,14531729,14523020,14504270,8794897,9771698,16614075,18029348,8392067,10585465,19629057,19557197,19491387,19470880,19367093,19303903,19301229,19284607,19283510,19265794,19255736,19244934,19207921,19184404,19164386,19153581,19151714,19092146,19091795,19079261,19079260,19077438,19073769,19058789,19050674,19016587,19011902,18997677,18996102,18992263,18974267,18835933,18809499,18801902,18779298,18777518,18697794,18682847,18559663,18551113,18461507,18454148,18454146,18377640,18239646,17986382,17941900,17822895,17713970,17590021,17587397,17579204,17545153,17519222,17517245,17492953,17482720,17445027,17418015,17376547,17356525,17322114,17286227,17185898,17041250,16886960,16820227,16710097,16611215,16507637,16459314,16344560,12588803,12499395,12477932,12364415,12244039,12165561,12140789,12045190,12032748,12015205,11912210,11823452,11747427,11692184,11487744,11443223,11101306,10318826,10199800,9771699,9763669,9392003,9058374,7949735,7854347,13678297,12970296,12959994,12815165,12732337,12690102,12646666,12646665,12639913,12629567,12620396,17668051,19214805,19329486,19463742,19680233,19692490,19696756,19741604,19743876,19746409,19794065,19803416,19812171,19844209,19851340,19880856,19889825,19906786,20007308,20070976,20092643,20147580,20161779,20181787,20214954,20215397,20215774,20220015,20386550,20397748,20400458,20406574,20421936,20468064,20520848,20530052,20935630,20696697,20538960,20712903,20724581,20725061,20734064,20816152,20816195,20843981,20957447,20966902,20966905,20975296,21046283,21063808,21085626,20631012,19913121,20571754,20580033,20616199,20628086,20682687,20703240,20733583 1626222,1600752,1600756,1600755,1331525,1600750,1357925 4160 NM_005912,AC091576,AY236539,CH471096,L08603,S77415,AK314130,BC069172,BC101802,BC111992,DA362673,NG_016441 NP_005903,AAO92061,EAW63105,AAA35791,AAB33341,BAG36820,AAH69172,AAI01803,AAI11993,P32245 Hs.532833 MGC126851|MGC138197 MC4-R|melanocortin receptor 4 1643312,1643553,1643573,1643583,2289640 BW246_H,ACTIV2_H,FOCO1_H,ACTIV1_H,BW510_H protein-coding 732421 MC5R melanocortin 5 receptor 1626222,1626223,1580863 7739752,19502010,18551113,19329486,19428994,20468064,17482720,16314755,15489334,15470082,12477932,11606131,11286624,9892020,9240466,9058374,8932521,8396929,8185570,7956366,12036966,19913121,20628086 1626222,1626223 4161 NM_005913,AP001525,AY268429,CH471113,EF444993,L27080,U08353,Z25470,BC069153,BC069545,BC095531 NP_005904,AAP23196,EAX01504,ACA06012,AAA59566,AAB60376,CAA80962,AAH69153,AAH69545,AAH95531,P33032 Hs.248145 MC2 melanocortin receptor 5|melanocortin-5 receptor 1643084,2316326 BW114_H,GLUCO230_H protein-coding 732868 MCAM melanoma cell adhesion molecule 1580863 20589320,8292890,8378324,18029348,19229070,19221091,19200179,19123925,19034879,19029148,18922915,18834073,18604730,18175063,18160586,17982057,17872908,17786470,17545460,17490776,17320204,17081983,16969099,16835268,16804906,16570276,16541130,16204154,16098047,15897668,15610525,15489334,14702039,14597988,14534536,12771231,12496470,12477932,12406332,11848444,11722842,11709656,11536311,11036077,10756096,10726166,10702685,10687524,10451481,10211875,9756930,9730695,9462829,9036955,8573133,8162602,2602381,15231748,19703903,19782948,20127798,20448216 4162 NM_006500,AP002956,CH471065,X68264,X68271,AB209925,AF089868,AK126303,AK128335,AK291571,AK312430,AU076908,BC056418,CR619421,CR625352,M28882,M29277 NP_006491,EAW67477,EAW67478,CAA48332,BAD93162,AAD17799,BAC86520,BAG54661,BAF84260,BAG35339,AAH56418,AAA20922,AAA20824,P43121,ACE87805,ACT64464 Hs.599039 CD146|MUC18 Gicerin|S-endo 1 endothelial-associated antigen|cell surface glycoprotein MUC18|cell surface glycoprotein P1H12|l-gicerin|melanoma adhesion molecule|melanoma-associated antigen A32|melanoma-associated antigen MUC18 protein-coding 1313070 MCART1 mitochondrial carrier triple repeat 1 737633,1580863 15489334,15342556,15164053,14702039,12477932,10737800,20877624 737633 92014 NR_024873,NR_024872,NM_033412,AL138752,CH471071,AK091407,AK094592,AK098185,BC008500,BC063563,BG953457,BP363489,CR607834,CR609001 NP_219480,CAC22316,EAW58258,EAW58259,EAW58260,AAH08500,Q9H1U9 Hs.645492 CG7943|FLJ37273|MGC14836 mitochondrial carrier triple repeat protein 1 protein-coding 1319971 MCART2 mitochondrial carrier triple repeat 2 This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq] 16344560,15489334,12477932 147407 NM_001034172,AC022960,AK302337,BC103999,BC104000,BC104001,DB057843 NP_001029344,BAG63667,AAI04000,AAI04001,AAI04002,Q3SY17 Hs.567708 MGC120230|MGC120231|MGC120232 mitochondrial carrier triple repeat protein 2 protein-coding 1352634 MCART3P mitochondrial carrier triple repeat 3 pseudogene 12477932 442229 NR_026540,AL391500,AW665607,BC024198 Hs.390414,Hs.725006 bA707M13.1 pseudo 1343151 MCART4P mitochondrial carrier triple repeat 4 pseudogene 645423 NG_009212,AP005062 pseudo 1352025 MCART5P mitochondrial carrier triple repeat 5 pseudogene 100128119 NG_009213,AC009871 pseudo 1603463 MCART6 mitochondrial carrier triple repeat 6 12477932,15772651 401612 Z82254,AL833609,BC035919,BC140812,BC140814,NM_001012755,AL135959,CH471120 CAI41997,AAI40813,AAI40815,Q5H9E4,NP_001012773,EAX02763 Hs.660022 DKFZp686O1267 mitochondrial carrier triple repeat protein 6 protein-coding 1607045 MCAT malonyl CoA:ACP acyltransferase (mitochondrial) The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Two transcript variants encoding different isoforms have been found for this gene. 20564319,12882974,16806233,16434556,16344560,15489334,12529303,12477932,10591208,19767753,20877624 27349 CR604802,DB306307,CR599689,NM_014507,NM_173467,AL022237,CH471138,AI811069,AK314059,AL359401,AL359403,BC030985,BC042195,BI464466,BX111669,CA422238 Q8IVS2,NP_055322,NP_775738,CAA18261,CAQ07851,EAW73286,EAW73287,BAG36765,CAB94789,CAB94790,AAH30985,AAH42195 Hs.349111 FASN2C|MCT|MGC47838|MT|NET62|fabD [Acyl-carrier-protein] malonyltransferase|malonyl-CoA-acyl carrier protein transacylase, mitochondrial|malonyl-CoA:acyl carrier protein transacylase, mitochondrial|mitochondrial malonyltransferase protein-coding 1351997 MCC mutated in colorectal cancers This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300441,1580863 19851296,20198315,20379614,14743216,17353931,1848370,19555689,18591935,16381901,15489336,15489334,14702039,12477932,11230166,11076863,8889548,8626604,8012355,1846539,1651563,1315124,11173969 1300441 4163 NM_001085377,NM_002387,NG_012265,AC008536,AC010431,AC079465,AC093208,AC106750,AC126917,CH471086,AK096212,AK128596,AK300259,AL359558,BC009279,BC018919,BC043431,BX537952,BX647710,CF887436,CR749713,M62397 NP_001078846,NP_002378,EAW48984,EAW48985,EAW48986,BAG53232,BAC87521,BAH13246,AAH09279,AAH18919,CAD97919,AAA52069,P23508,Q7Z3E9,CAL38488,ACE87431,ACE86745,EAW48987 Hs.593171 DKFZp762O1615|FLJ38893|FLJ46755|MCC1 OTTHUMP00000222861|OTTHUMP00000223206|colorectal mutant cancer protein protein-coding 1321620 MCCC1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq] 1580863 11401427,11170888,17968484,16023992,16010683,15489334,14702039,12477932,11406611,11181649,1517917,18029348,19339287,19706617,20379614,20877624 56922 NG_008100,AC104641,AC108741,CH471052,AB029826,AB209737,AF297332,AF310339,AF310972,AK023051,AK098411,AK294882,AK295293,AK316428,AL442091,AL532496,BC004187,BC036395,BC042453,BF795651,CR625136,CR749608,BC004214,NM_020166 EAW78339,EAW78340,BAA99407,BAD92974,AAK67986,AAG50245,AAG53095,BAB14377,BAG57977,BAG58277,BAH14799,AAH04187,AAH04214,CAH18403,Q68D27,Q96RQ3,NP_064551 Hs.47649 DKFZp686B20267|FLJ25545|MCC-B|MCCA 3-methylcrotonyl-CoA carboxylase 1|3-methylcrotonyl-CoA carboxylase biotin-containing subunit|3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha|MCCase subunit alpha|OTTHUMP00000212828|OTTHUMP00000212829|OTTHUMP00000212832|methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial|methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) protein-coding 1352586 MCCC2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq] 1580863,2316864 20877624,11170888,11181649,17968484,17876819,16023992,16010683,15489334,15146197,14702039,12477932,11406611,11401427,19851296,20198315 2316864 64087 NM_022132,NG_008882,AB050050,AC138832,AC143336,CH471084,AB050049,AF261884,AF301000,AF310971,AK025591,AK090834,AK310194,AL079298,BC014897,BC065027,CN309723 NP_071415,BAB41121,EAW95691,EAW95692,EAW95693,BAB16880,AAK49409,AAK16404,AAG53094,BAG52236,CAB45194,AAH14897,AAH65027,Q9HCC0 Hs.604789 MCCB 3-methylcrotonyl-CoA carboxylase 2|3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit|3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta|MCCase subunit beta|OTTHUMP00000222178|biotin carboxylase|methylcrotonoyl-CoA carboxylase beta chain, mitochondrial|methylcrotonoyl-Coenzyme A carboxylase 2 (beta)|non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase protein-coding 1352481 MCCD1 mitochondrial coiled-coil domain 1 19851445,20379614,19115949,14574404,14527716,12477932,20854863 401250 NM_001011700,AL662801,AL662847,AL663061,BX001040,BX248516,BX682535,BX927320,CR753820,CR753864,CT009531,BC132994,BC132996,BN000141 CAM25436,NP_001011700,CAM25581,CAM25874,CAM26153,CAQ09734,AAI32995,AAI32997,CAD71139,P59942 Hs.558922 mitochondrial coiled-coil domain protein 1 protein-coding 1342844 MCDR1 macular dystrophy, retinal, 1 (North Carolina type) 4167 1345546 MCDR2 macular dystrophy, retinal 2 317667 1348819 MCDR3 macular dystrophy, retinal 3 317668 1320595 MCEE methylmalonyl CoA epimerase The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq] 20877624,11481338,17823972,16843692,16752391,16697227,15489334,12477932 84693 NM_032601,NG_008977,AC007881,CH471053,AB209469,AF364547,AI033764,BC020825,BM271757,CR624276 NP_115990,AAY14749,EAW99778,BAD92706,AAK52052,AAH20825,Q96PE7,ABM82301,ABM85479 Hs.94949 GLOD2 DL-methylmalonyl-CoA racemase|glyoxalase domain containing 2|methylmalonyl-CoA epimerase, mitochondrial protein-coding 1345996 MCF2 MCF.2 cell line derived transforming sequence MCF2 is a member of a large family of GDP-GTP exchange factors that modulate the activity of small GTPases of the Rho family. Five-prime recombinations result in the loss of N-terminal codons, producing MCF2 variants with oncogenic potential.[supplied by OMIM] 1580863 11756498,12376548,12787561,17178836,20479760,18470881,3056717,3281159,18728402,17606614,17538024,16344560,15772651,13679059,12445822,12376551,11907027,11134331,11062019,10925207,10854437,10652228,10518015,8276860,3491366,2613238,2577874,2065022,1611909 4168 DA723464,NG_016439,NM_001171876,NM_001171877,NM_001171878,NM_001171879,NM_001099855,NM_005369,AL033403,AL161777,CH471150,AB085901,AB085902,AK296488,AK296529,AK302957,AK313900,AK316416,AL117234,DA326503,DA391685,DC298193,J03639,X12556,X13230 NP_001165347,NP_001165348,NP_001165349,NP_001165350,NP_001093325,NP_005360,CAA21955,CAI42104,CAI42105,CAI42106,CAI42107,CAI42108,CAI39715,EAW88426,EAW88427,EAW88428,EAW88429,EAW88430,BAC41200,BAC41201,BAH12371,BAH12378,BAH13855,BAG36623,BAH14787,CAB55301,AAA52172,CAA31069,CAA31617,P10911,Q59EY2,Q5JYJ5,Q5JYJ6,AAI60052 Hs.387262 ARHGEF21|DBL OTTHUMP00000024159|Oncogene MCF2 (oncogene DBL)|proto-oncogene DBL|proto-oncogene MCF-2 protein-coding 737008 MCF2L MCF.2 cell line derived transforming sequence-like 1580863 11756498,12376548,12787561,18029348,19911011,20379614,12147231,17903294,17562712,16344560,15531584,15157669,14702039,14701795,12477932,12376551,12006984,11889037,9205841,7957046 23263 NM_024979,AL137002,AL162454,AL356740,AL596093,CH471085,AB002360,AB116074,AB116075,AF086413,AK022184,AK057899,AK092739,AK094768,AK123267,AK295047,AK295670,AK307867,AK315969,BC011853,BC020208,BC107066,BC107067,BX648279,NM_001112732,DA114166,DA313448,DA769805 NP_001106203,NP_079255,CAI41383,CAI41390,CAI41392,CAI95400,CAM24070,CAM24071,CAM24072,CAI39869,CAI39870,CAI39871,CAI95103,CAH70243,CAH70244,CAH70245,CAI94923,CAI39523,CAI39524,CAI39525,CAI94928,CAM13087,CAM13088,EAX09175,EAX09176,EAX09177,EAX09178,EAX09179,EAX09180,BAA20817,BAD08351,BAD08352,BAB71611,BAG52925,BAG58097,BAG58528,BAH14340,AAH11853,AAH20208,AAI07067,AAI07068,CAM24069,CAX11891,CAX11892,CAX11890,O15068,Q3B838,Q3B839,Q96LQ9,ABM82967,ABM86159,CAM13074,CAM13075,CAM13076,CAX15005 Hs.170422,Hs.597691 ARHGEF14|DBS|FLJ12122|KIAA0362|OST DBL's big sister|MCF2 transforming sequence-like protein|MCF2-transforming sequence-like protein|OTTHUMP00000018740|OTTHUMP00000018741|OTTHUMP00000081739|OTTHUMP00000202677|guanine nucleotide exchange factor DBS protein-coding 1352917 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 1580863 20667095,19648752,20379614,18259684,12477932,12421765,10048485 23101 NM_015078,AC069417,AC092960,AC104641,AC112647,CH471052,AB020668,AK124500,AK301698,AK310962,AY172737,BC029074,BC064632,BM920156,BX647790,BX649003 NP_055893,EAW78329,EAW78330,EAW78331,EAW78332,BAA74884,BAC85866,BAG63170,AAO19651,AAH29074,AAH64632,Q86YR7 Hs.208267 ARHGEF22|DKFZp686K0690|FLJ42509|KIAA0861 MCF2-transforming sequence-like protein 2|OTTHUMP00000212875|Rho family guanine-nucleotide exchange factor|dbs-related Rho family guanine nucleotide exchange factor|probable guanine nucleotide exchange factor MCF2L2 protein-coding 1350244 MCFD2 multiple coagulation factor deficiency 2 2463956,18685427,18590741,18391077,18056485,17785371,17610559,17010120,16044454,15886209,15815621,15489334,15292203,14702039,12832409,12717434,12477932,10090935,10090934,16344560,19787799,20004600,20007547,20138881,20339536 90411 NM_139279,AC016722,CH471053,CS208035,AF475284,AF537214,AK095006,AK292127,AK293889,AL833900,BC037845,BC040357,BI553070,CR607097,CR749562,M23161,HB867220,AI079820,AI371370,CF994192,DA194356,DA226366,DA324623,DA330030,DA404031,DA412975,DB096245,DC321899,DC332658,NG_016428,NM_001171506,NM_001171507,NM_001171508,NM_001171509,NM_001171510,NM_001171511,AC093732 NP_644808,AAY15013,EAX00230,EAX00231,EAX00232,EAX00233,CAJ44943,AAM28465,AAP23162,BAF84816,BAG57278,CAD38756,AAH37845,AAH40357,CAH18359,Q68D61,Q8NI22,ABM82030,ABM85211,CBF57596,NP_001164977,NP_001164978,NP_001164979,NP_001164980,NP_001164981,NP_001164982 Hs.727545 DKFZp686G21263|F5F8D|F5F8D2|LMAN1IP|SDNSF OTTHUMP00000203115|OTTHUMP00000203118|OTTHUMP00000203121|multiple coagulation factor deficiency protein 2|neural stem cell derived neuronal survival protein|neural stem cell-derived neuronal survival protein protein-coding 1346657 MCFD2L multiple coagulation factor deficiency 2-like 645927 AL031118,NG_009330 C6orf44|MCFD2L|NUCB2-L|dJ153G14.2 pseudo 733421 MCHR1 melanin-concentrating hormone receptor 1 The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq] 1624359,1580863,1624360,704404 16754659,10860944,10421367,19058789,18722347,18198296,16741940,16186414,16039987,15941924,15928315,15590649,15489334,15461802,15340116,15166293,14632194,12865333,12620396,12477932,12220661,12176038,12127971,11839762,11478907,10591208,10441476,10421368,8977118,12208518,11416225,19320743,19453261,19502010,20633139,18577758,20734064 1624359,1624360 2847 NM_005297,CH471095,U71092,Z86090,AB063174,AF490537,AI934819,AK314857,AY562945,AY745811,AY747629,BC001736,BC021146,BT006725,CR456497,CR593233,CR601249 NP_005288,EAW60387,EAW60388,AAC14587,CAI17933,BAB60890,AAO14670,BAG37373,AAS72373,AAV98052,AAV98053,AAH01736,AAH21146,AAP35371,CAG30383,Q5IFH6,Q5IFI4,Q99705,CAK54525,CAK54824,ABM84529,ABM85991 Hs.248122 GPR24|MCH1R|MGC32129|SLC1 G protein-coupled receptor 24|G-protein coupled receptor 24|MCH receptor 1|MCH-1R|MCH-R1|MCHR|MCHR-1|SLC-1|melanin-concentrating hormone receptor 1|somatostatin receptor-like protein protein-coding 1347761 MCHR2 melanin-concentrating hormone receptor 2 1580863 15340116,15229878,14702039,14574404,12620396,12477932,12127971,11839762,11478907,11459838,11416225,11404457,11355873,11274220,17698913,15941924,15489334,16754659,21102462,19502010,19683862,19927306,20099459 84539 NM_001040179,AL590725,CH471051,AB058849,AB060151,AF347063,AF399937,AK123634,AY029596,AY562946,BC038441,BC095515,NM_032503 NP_115892,NP_001035269,CAH70022,EAW48459,EAW48460,BAB87842,BAB55677,AAK32193,AAL05528,BAG53926,AAK38157,AAS72374,AAH95515,Q969V1 Hs.591342 GPR145|GPRv17|MCH-2R|MCH-R2|MCH2|MCH2R|MCHR-2|SLT G protein-coupled receptor 145|G protein-coupled receptor slt|G-protein coupled receptor 145|MCH receptor 2|OTTHUMP00000016901|g protein-coupled receptor 145|melanin-concentrating hormone 2|melanin-concentrating hormone receptor 2 2289234,2289252 BW142_H,BW141_H protein-coding 1347319 MCKD1 medullary cystic kidney disease 1 (autosomal dominant) 9536096 4169 1343881 MCKD2 medullary cystic kidney disease 2 (autosomal dominant) 10330352 10122 735512 MCL1 myeloid cell leukemia sequence 1 (BCL2-related) The protein encoded by this gene belongs to the Bcl-2 family. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. The longer gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene product (isoform 2) promotes apoptosis and is death-inducing. [provided by RefSeq] 70678,2313975 19099185,18292181,15753661,15262975,10837489,9184696,7896880,19616548,19523441,19503096,19484260,19401626,19372583,19288493,19285955,19148187,19092849,19077158,19051025,19037233,19012245,19008456,18769617,18768389,18757878,18676833,18676738,18647593,18609706,18599795,18552129,18543107,18495871,18483275,18452656,18415656,15728130,15713684,15694340,15637055,15626746,15613543,15611089,15588513,15550399,15489334,15378010,15370246,19968719,15241487,15217829,15126604,15122313,15078892,15077116,15014070,14982947,14633975,12960271,12915532,12901848,12855556,12787138,12783855,12782407,12660820,12637318,12496428,12477932,12475993,12445202,12359245,12223490,12176902,12149273,12070027,12057933,11911971,11877256,11781193,11598139,11546872,11483855,11130466,10978339,10965038,10766760,10634649,10579309,9671497,9356461,8790944,7835896,7682708,17670986,9731710,10198631,15451437,15721256,20038816,20392693,20501829,18234961,18178565,18089567,18046444,18032706,18025305,18006817,17942758,17928528,17927446,17893147,17823113,17805325,17698840,17634558,17599053,17561513,17553788,17545167,17525735,17498302,17495975,17463001,17387146,17384650,17227835,17200126,18208354,17145774,17072336,17009247,16978419,16969094,16901898,16822835,16782027,16761109,16725198,16710414,16543145,16538501,16478725,16456709,16380381,16339575,16327976,16289418,16229017,16213503,16109713,16091744,16027162,16007132,15989957,15940637,15902294,15901672,15842635,19949310,20526282,16697956,18029348,18088462,19369967,19481066,19581935,19582795,19587033,19605477,19634140,19654003,19676043,19683529,19684859,19734538,19737931,19748896,19773546,19782681,19808698,19838163,19841168,19887550,19933775,19942343,19955184,19965632,19966861,19968497,19968986,20004446,20023629,20051518,20066663,20066738,20085644,20156337,20173022,20189983,20197552,20308427,19571464,21036904,20693279,20802294,20571074,19763916,19913121,20628086,20677014 70678,2313975 4170 NM_182763,NM_021960,AF147742,AF162677,AF198614,AL356356,CH471121,DQ088966,AA453505,AF118124,AF118276,AF118277,AF118278,AF203373,AK294462,AK297217,AK300499,AK304775,AK312508,AK316267,BC017197,BC071897,BC107735,BT006640,CR610973,CR618814,CR621920,CR625890,L08246,CA421486,NM_001197320,FJ917536 NP_877495,NP_068779,AAF74821,AAG00896,AAF64255,AAF64256,CAI15503,CAI15504,EAW53538,EAW53539,EAW53540,EAW53541,AAY68220,AAD13299,AAF15309,AAF15310,AAF15311,AAG00904,BAG57694,BAG59700,BAG62213,BAG65530,BAG35409,BAH14638,AAH17197,AAH71897,AAI07736,AAP35286,Q07820,ABM92245,ABM84721,NP_001184249,ACV83304 Hs.632486 BCL2L3|EAT|MCL1-ES|MCL1L|MCL1S|MGC104264|MGC1839|Mcl-1|TM|bcl2-L-3|mcl1/EAT bcl-2-like protein 3|bcl-2-related protein EAT/mcl1|bcl2-L-3|induced myeloid leukemia cell differentiation protein Mcl-1|mcl1/EAT|myeloid cell leukemia ES|myeloid cell leukemia sequence 1|myeloid cell leukemia sequence 1, isoform 1 protein-coding 1322725 MCM10 minichromosome maintenance complex component 10 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 11095689,12791985,12045100,15226314,15707391,17997981,17997977,17975119,17823614,17761813,17699597,16189514,15489334,15232106,15195143,15164054,15136575,14702039,12844493,12808023,12477932,11889827,11864598,11602595,11230166,16344560,16385451,17643375,19023099,19447967,19608746,19696745,19795399,19805216,20064936,20379614,20098747 55388 AAB34309,AAB34784 CR620605,BC143490,NM_182751,NM_018518,AL138764,AL355355,CH471072,AB042719,AF119869,AK055695,AK292701,AL136840,BC004876,BC009108,BC101727,DA024424 AAI43491,AAB34309,AAB34784,Q5T670,Q7L590,NP_877428,NP_060988,CAI12912,CAI12913,CAI16557,CAI16558,EAW86297,EAW86298,BAB18723,AAF69623,BAB70988,BAF85390,CAB66774,AAH04876,AAI01728 Hs.198363 CNA43|DNA43|MGC126776|PRO2249 MCM10 minichromosome maintenance deficient 10|OTTHUMP00000019134|OTTHUMP00000216196|homolog of yeast MCM10|hsMCM10|mcm10 minichromosome maintenance deficient 10 (s. cerevisiae)|protein MCM10 homolog protein-coding 1313689 MCM2 minichromosome maintenance complex component 2 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. [provided by RefSeq] 1580863 16428461,16826239,19525936,16902406,18803052,19144445,19522849,19615732,19696745,19805216,19862764,20085707,20174894,20333247,20508983,20562859,20661220,8175912,11095689,16387653,12791985,8798650,10436018,10846177,11931757,12045100,15226314,15707391,19647517,19318354,19243005,19077563,19001876,19001846,18774496,18465232,18286467,18249467,18248354,18190532,18184650,17940502,17557111,17512033,17081983,16964243,16899510,16882345,16864800,16722928,16629645,16609045,16446360,16169070,16083285,15766559,15654075,15635413,15489334,15345747,15302935,15236977,15232106,15210935,12966424,12805274,12740381,12694531,12614612,12480933,12477932,12392551,12207017,12119552,12087101,11872961,11864598,11568184,11472637,11278932,10748114,10567526,10523313,9642275,8258304,7842741,7584028,7584026,1710453,9099751,16189514,11248027,20628624,20697251 4171 FB572966,NM_004526,AC023593,AY270230,AY675259,CH471052,AK128291,AK299934,AK304204,AK309335,BC000300,BC006165,BC007670,BC007938,BC014272,BC017258,BC017490,BC030131,BM153020,BT009734,CR597081,CR605781,CR606960,CR617929,D21063,D83987,X67334,HH769468 CAR95152,NP_004517,AAT70723,EAW79339,BAG54656,BAG61767,BAH14132,AAH00300,AAH06165,AAH07670,AAH07938,AAH14272,AAH17258,AAH17490,AAH30131,AAP88736,BAA04642,BAA12177,CAA47749,P49736,Q9BWF4,AAP88735,CBX85462 Hs.477481 BM28|CCNL1|CDCL1|D3S3194|KIAA0030|MGC10606|MITOTIN|cdc19 DNA replication licensing factor MCM2|MCM2 minichromosome maintenance deficient 2, mitotin|OTTHUMP00000216050|cell devision cycle-like 1|cyclin-like 1|mcm2 minichromosome maintenance deficient 2, mitotin (s. cerevisiae)|minichromosome maintenance deficient 2 (mitotin)|minichromosome maintenance protein 2 homolog|nuclear protein BM28 protein-coding 1313036 MCM3 minichromosome maintenance complex component 3 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with, and thus is acetlyated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. [provided by RefSeq] 1580863 7758114,1549468,12364596,15232106,15654075,17353931,12791985,18029348,10436018,10846177,11095689,11931757,12045100,15226314,15707391,18524952,17244605,17081983,16964243,16537544,15766559,15671553,15635413,15623617,15489334,15302935,15210935,14574404,12614612,12477932,12226073,11258703,11248027,11046155,11024281,10780780,10733502,10464337,10454562,9843502,9712829,9373149,9250678,8798650,8631321,8265339,8125298,7760938,7705359,7622621,7615659,7601140,11779870,9099751,15236977,15775975,16902406,17148452,17540176,19818763,19862764,20508983,20545442,20661220 4172 NM_002388,AL034343,AY621074,CH471081,AK222586,AK299566,AK300754,AK301704,AK312928,AY032603,BC001626,BC003509,BI463632,CR592122,D38073,X62153,HH769478 NP_002379,CAB75298,CAD92644,AAT27321,EAX04366,EAX04367,BAD96306,BAG61508,BAG62421,BAG63176,BAG35772,AAK56392,AAH01626,AAH03509,BAA07267,CAA44078,P25205,Q53HJ4,Q7Z6P5,Q8NHX6,ABM84580,ABM86766,CBX85467 Hs.179565 HCC5|MGC1157|P1-MCM3|P1.h|RLFB DNA polymerase alpha holoenzyme-associated protein P1|DNA replication factor MCM3|DNA replication licensing factor MCM3|MCM3 minichromosome maintenance deficient 3|RLF subunit beta|cervical cancer proto-oncogene 5|hRlf beta subunit|mcm3 minichromosome maintenance deficient 3 (s. cerevisiae)|minichromosome maintenance deficient 3|p102|replication licensing factor, beta subunit protein-coding 1315674 MCM3AP minichromosome maintenance complex component 3 associated protein The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. [provided by RefSeq] 1580863 16780588,15489334,9712829,15231748,14702039,12885157,12477932,12421765,12226073,12167160,11641399,11526238,11258703,11024281,10830953,10733502,9628581,18276110,16169070,20384790,19578742,19686285,20005110,20507984,20936779 8888 NM_003906,AP000471,AP001469,AY590469,CH471079,AB005543,AB011144,AJ010089,AK022303,AK026578,AK095181,AK126313,AK127239,AK304208,BC004497,BC013285,BC104958,BC104960,CR604265 NP_003897,AAS89300,EAX09296,BAA25170,BAA25498,CAB52687,BAG53000,BAG54306,BAG54460,BAH14134,AAH04497,AAH13285,AAI04959,AAI04961,O60318,Q6PJP6,Q9BSY5 Hs.389037 FLJ44336|FLJ45306|GANP|KIAA0572|MAP80 80 kDa MCM3-associated protein|MCM3 import protein|MCM3 minichromosome maintenance deficient 3 associated protein|OTTHUMP00000115776|germinal center-associated nuclear protein|mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein|minichromosome maintenance deficient 3-associated protein protein-coding 1352112 MCM3APAS MCM3AP antisense RNA (non-protein coding) 14702039,12477932,12036297 114044 NR_002776,AP001469,AF426262,AF426263,AK001370,AK054878,BC002458,BC016306,BC030022,BC047759,BC059792 Hs.655095 C21orf85|FLJ10508|MCM3AP-AS|MCM3APAS|MCM3APASB|MGC61921|NCRNA00031 mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein antisense miscrna 735578 MCM4 minichromosome maintenance complex component 4 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 16387653,16902406,17222376,18162579,19615732,19773279,20333247,20508983,19862764,11248027,7601140,9099751,15232106,12791985,9465298,18029348,10436018,10846177,11095689,11931757,12045100,15226314,15707391,8265339,19074885,19053250,18190532,17081983,17046832,17005684,16964243,16519687,16517729,15635413,15489334,15302935,15236977,15081408,15037254,14702039,12771218,12714602,12694531,12614612,12477932,12207017,11454864,11136247,10748114,10567526,9642275,9305914,9284934,8798650,8631321,16341674,20398247,20211142,20800603 4173 NM_005914,NM_182746,AC021236,AY588245,CH471068,U63630,U90415,AK022899,AK296913,AK309812,AM493756,BC031061,BM781972,BQ058022,CR598188,CR606514,X74794,HH769490 NP_005905,NP_877423,AAS83108,EAW86684,EAW86685,EAW86686,AAC52018,AAB51723,BAG51132,BAG59468,CAM35476,AAH31061,CAA52801,P33991,CBX85473 Hs.460184 CDC21|CDC54|MGC33310|P1-CDC21|hCdc21 CDC21 homolog|DNA replication licensing factor MCM4|MCM4 minichromosome maintenance deficient 4|homolog of S. pombe cell devision cycle 21|mini chromosome maintenance deficient 4 homolog (s. cerevisiae)|minichromosome maintenance deficient 4 protein-coding 1315334 MCM5 minichromosome maintenance complex component 5 The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq] 1580863 15232106,17353931,12791985,8751386,10436018,10846177,11095689,11931757,12045100,15226314,15707391,19318354,19130399,19074885,18799789,18465232,18181189,17988337,17940502,17557111,16341674,16199513,16189514,15696126,15635413,15489334,15461802,15324660,14743216,14702039,12614612,12477932,11839717,11248027,10591208,10327050,9843502,9373149,9223437,8798650,8265339,8125298,7705359,9099751,15236977,12364596,19615732,19862764,20085707,20508983 4174 AY212028,CH471095,AB209612,AK122853,AK130620,AK223323,AK291136,AK298624,AK301121,AK308343,AK312533,BC000142,BC003656,NM_006739,BM787690,CR456517,CR591959,CR592264,CR601762,CR611599,CR612297,CR615349,CR617289,D83986,X74795,Z82244,HH769500 NP_006730,AAO21127,EAW60060,EAW60061,EAW60062,EAW60063,BAD92849,BAG53762,BAD97043,BAF83825,BAG60801,BAG62717,BAG35432,AAH00142,AAH03656,CAG30403,BAA12176,CAA52802,P33992,Q53FG5,Q59F49,CAK54548,CAK54847,CAQ08827,CAQ08828,CAQ08829,CAQ08830,CBX85478 Hs.517582 CDC46|MGC5315|P1-CDC46 CDC46 homolog|DNA replication licensing factor MCM5|MCM5 minichromosome maintenance deficient 5, cell division cycle 46|mcm5 minichromosome maintenance deficient 5, cell division cycle 46 (s. cerevisiae)|minichromosome maintenance deficient 5 (cell division cycle 46) protein-coding 1352854 MCM6 minichromosome maintenance complex component 6 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. [provided by RefSeq] 1580863 19862764,9286856,15232106,19454010,16387653,16438930,16902406,17148452,17294730,17643375,17955473,18029348,18162579,19615732,19937006,20085707,20103649,20173814,20202939,20447925,20508983,15236977,12791985,10436018,10846177,11095689,11931757,12045100,15226314,15707391,18797476,17911653,17410335,17159977,16964243,16344560,16189514,15635413,15489334,12771218,12694531,12614612,12477932,12192004,11788828,11136247,10748114,10567526,10327050,9516426,9305914,8977093,8921380,8798650,12207017,9099751,11248027,20628624 4175 NM_005915,NG_008958,AC011893,AC011999,AY220757,CH471058,U67281,U67282,U67283,U67284,AK299236,AK303455,AK312575,AU124893,BC008774,BC020268,BC032374,D84557,U46838,CS566136 NP_005906,AAX88925,AAY15028,AAO26043,EAX11621,AAB48165,BAG61268,BAG64499,BAG35469,AAH32374,BAA12699,AAC50766,Q14566,Q4ZG57,Q53T61,CAN37618 Hs.444118 MCG40308|Mis5|P105MCM DNA replication licensing factor MCM6|MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe)|MIS5 homolog|mcm6 minichromosome maintenance deficient 6 (mis5 homolog, s. pombe) (s. cerevisiae)|minichromosome maintenance deficient (mis5, S. pombe) 6|minichromosome maintenance deficient 6 homolog protein-coding 1347363 MCM7 minichromosome maintenance complex component 7 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863,2317697,2317698 19862764,20098747,20661220,15538388,10518787,16438930,12791985,8798650,18029348,10436018,10846177,11095689,11931757,12045100,15226314,15707391,19401682,19318354,19189662,18636144,18072282,17557111,17310990,17094475,16703398,16289477,16247466,16189514,15720416,15654075,15635413,15489334,15232106,15210935,14743216,14702039,14678972,14550576,14516785,12771218,12694531,12690205,12614612,12519773,12477932,12207017,11861392,11056214,10748114,10722676,10649446,10567526,10473096,10464337,9852095,9714754,9566894,9305914,9133452,9110174,9099751,8652665,8631321,8626784,8619474,8265339,8258304,7842741,7601140,1710453,18162579,11248027,11779870,17353931,15236977,20388916,17314511,19144445,19270065,19696745,19805216,19834905,20508983,9223437,20048674,20236609 2317697,2317698 4176 NM_005916,NM_182776,AB004270,AC073842,CH236956,CH471091,AF279900,AI083651,AK055379,AK096959,AK226175,AK293172,AK314575,AY007130,BC009398,BC013375,CR594412,CR603541,CR603902,CR604613,CR605715,CR608168,CR611015,CR617217,CR617430,CR617870,D55716,X74796,D86748,HH769510 NP_005907,NP_877577,EAL23855,EAL23856,EAW76598,EAW76599,EAW76600,AAK07555,BAG51508,BAG53399,BAG56716,BAG37153,AAG01994,AAH09398,AAH13375,BAA09534,CAA52803,P33993,Q9BXV1,Q9H4N9,ABM86873,ABW03896,BAH84845,CBX85483 Hs.438720 CDABP0042|CDC47|MCM2|P1.1-MCM3|P1CDC47|P85MCM|PNAS-146|PNAS146 CDC47 homolog|DNA replication licensing factor MCM7|homolog of S. cerevisiae Cdc47|mcm7 minichromosome maintenance deficient 7 (s. cerevisiae)|minichromosome maintenance deficient 7 protein-coding 1313114 MCM8 minichromosome maintenance complex component 8 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the MCM proteins. This protein has been shown to co-immunoprecipitate with MCM4, 6 and 7, which suggests that it may interact with other MCM proteins and play a role in DNA replication. Alternatively spliced transcript variants encoding distinct isoforms have been described. 12791985,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,18072282,15489334,14702039,12771218,12527764,12477932,11780052,8889548,19448619,19448621,20800603,20205591,19913121,20628086 84515 NM_182802,NM_032485,AL035461,CH471133,AI200387,AJ439063,AK027644,AK160378,AK314654,AY158211,BC005170,BC008830,BC080656,BC101054,BC101055,BC101056,BC101057,BM664368,AK297806,CS402789,CS402791,CS402793,CS402795,CS402799,CS402801 NP_877954,NP_115874,CAB55276,CAI23480,EAX10403,EAX10404,EAX10405,CAD27750,BAB55260,BAD18721,BAG37214,AAO21222,AAH08830,AAH80656,AAI01055,AAI01056,AAI01057,AAI01058,Q495R6,Q6ZMK4,Q9UJA3,BAG60144,CAL40366,CAL40367,CAL40368,CAL40369,CAL40371,CAL40372 Hs.597484 C20orf154|MGC119522|MGC119523|MGC12866|MGC4816|REC|dJ967N21.5 DNA replication licensing factor MCM8|MCM8 minichromosome maintenance deficient 8|REC homolog|mcm8 minichromosome maintenance deficient 8 (s. cerevisiae)|minichromosome maintenance 8 protein-coding 1313696 MCM9 minichromosome maintenance complex component 9 This gene encodes a protein that shares similarity with minichromosome maintenance (MCM) proteins, which are known to be essential for initiation of DNA replication. [provided by RefSeq] 18657502,16495042,16226853,15850810,14702039,14574404,12477932,19292915,19342892,8125298,9373149 254394 NM_153255,AL132874,CH471051,AK000177,AK122665,AK299076,BC024976,BC031658,BN000882,BX649114,DB476942,AK225233,XM_003118897,XM_003120011,XM_003120534 NP_694987,EAW48191,EAW48192,BAA90991,BAG53653,BAG61142,AAH31658,CAJ70648,Q9NXL9,ABM83391,ABM86604,XP_003118945,XP_003120059,XP_003120582 Hs.279008 C6orf61|FLJ13942|FLJ20170|FLJ56845|MCMDC1|MGC35304|dJ329L24.1|dJ329L24.3 DNA replication licensing factor MCM9|hMCM9|mini-chromosome maintenance deficient domain-containing protein 1|minichromosome maintenance 9|minichromosome maintenance deficient domain containing 1 protein-coding 1349273 MCO microphthalmia (Los Angeles type) 4178 1319026 MCOLN1 mucolipin 1 1599926,1580863 15336987,15178326,15070744,14749347,14702039,12477932,12459486,12182165,12125810,11845410,11318610,11317355,10973263,10441585,9373149,8125298,16169070,18029348,20864526,11030752,11013137,18794901,18264947,17988215,17924347,17306511,17239335,16978393,16645217,16606612,16517607,16382100,16361256,16287144,16257972,16133264,15523648,15489334,15345747,11326278,18504305,19006653,19638346,19763610,19864416,19885840,2874839,20736310 1599926 57192 NM_020533,AC008878,AF287270,AF305579,CH471139,AF171088,AF249319,AF287269,AJ293659,AJ293970,AK026102,AK222673,AK294330,AK310109,BC005149,CR616477,CR622331,AA831948,DC356874,NG_015806 NP_065394,AAG00798,AAG42242,EAW69031,EAW69032,EAW69033,EAW69034,AAG10422,AAG00797,CAC07813,CAC08215,BAB15360,BAD96393,BAG57602,AAH05149,Q53HA8,Q9GZU1,ABM82770,ABM85958,AAQ13604 Hs.631858 ML4|MLIV|MST080|MSTP080|TRP-ML1|TRPM-L1|TRPML1 MG-2|mucolipidin|mucolipidosis type IV protein|mucolipin-1 protein-coding 1318909 MCOLN2 mucolipin 2 Mucolipins constitute a family of cation channel proteins with homologs in mouse, Drosophila, and C. elegans. Mutations in the human MCOLN1 gene (MIM 605248) cause mucolipodosis IV (MIM 262650).[supplied by OMIM] 1580863 20736310,17662026,16606612,16382100,14702039,12477932,12403827,19763610,19885840,19940139,20379614 255231 NM_153259,AL139150,AL358789,CH471097,AK094010,AK129786,AK309858,AV713773,AY083533,BC104891,BC104893,BF512441 NP_694991,CAI22348,EAW73219,EAW73220,EAW73221,BAC04267,AAM08926,AAI04892,AAI04894,Q8IZK6 Hs.591446 FLJ36691|TRP-ML2|TRPML2 OTTHUMP00000011614|mucolipin-2 protein-coding 1318177 MCOLN3 mucolipin 3 Mucolipins constitute a family of cation channel proteins with homologs in mouse, Drosophila, and C. elegans. Mutations in the human MCOLN1 gene (MIM 605248) cause mucolipodosis IV (MIM 262650).[supplied by OMIM] 1580863 19497048,19522758,19885840,20378547,16712791,19299509,18369318,18162548,17962195,16710414,16606612,16382100,14702039,12477932,12403827,11326278,20736310 55283 NM_018298,AL358789,CH471097,AF475085,AK001868,AK093948,AK095148,AK292206,AK314354,BC060765,BQ006750,BU634119,BX647497,CB159774,W03483 NP_060768,CAI14913,CAI14914,CAI14915,EAW73215,EAW73216,EAW73217,EAW73218,AAL84622,BAA91951,BAF84895,AAH60765,Q6P9H1,Q8TDD5 Hs.535239 FLJ11006|FLJ36629|MGC71509|TRP-ML3|TRPML3 OTTHUMP00000011616|OTTHUMP00000011617|mucolipin-3 protein-coding 1349111 MCPH1 microcephalin 1 19549900,19690177,19793310,19829069,19925808,20056645,20080800,20101680,20107607,20379614,20508983,16479174,16344560,16217032,16151009,15489334,15220350,15199523,15056608,14702039,12837246,12571366,12477932,12046007,11857108,9683597,19546241,19525936,19475667,19267414,18718915,18660752,18635967,18204051,17925396,17566767,17251122,17220170,17102619,16872911,16783362,16687438,20485444,20602615 79648 NM_024596,AC016065,AC018398,AF287957,AX087870,AY307773,AY307774,AY307775,AY307776,AY307777,AY307778,AY307779,AY307780,AY307781,AY307782,AY307783,AY307784,AY307785,AY307786,AY307787,AY307788,AY307789,AY505589,AY505590,AY505591,AY505592,AY505593,AY505594,AY505595,AY505596,AY505597,AY505598,AY505599,AY505600,AY505601,AY505602,AY505603,AY505604,AY505605,AY505606,AY505607,AY505608,AY505609,AY505610,AY505611,AY505637,AY505638,AY505639,AY505640,AY505641,AY505642,AY505643,AY505644,AY505645,AY505588,AY505646,AY505647,AY505648,AY505649,AY505650,AY505651,AY505652,AY505653,AY505654,AY505655,AY505656,AY505657,AY505775,AY505776,AY505777,AY505778,AY505779,AY505780,AY505781,AY505782,AY505783,AY505784,AY505785,AY505786,AY505787,AY505788,AY505789,AY505790,AY505791,AY505792,AY505793,AY505794,AY505795,AY505796,AY505797,AY505798,AY505799,AY505800,AY505801,AY505802,AY505803,AY505804,AY505868,AY505869,AY505870,AY505871,AY505872,AY505873,AY505874,AY505875,AY505901,AY505902,AY505903,AY505904,AY505905,AY505906,AY505907,AY505909,AY505912,AY505913,AY505914,AY505915,AY505916,AY505917,AY505805,AY505806,AY505807,AY505808,AY505809,AY505835,AY505836,AY505837,AY505838,AY505839,AY505840,AY505841,AY505842,AY505843,AY505844,AY505845,AY505846,AY505847,AY505848,AY505849,AY505850,AY505851,AY505852,AY505853,AY505854,AY505855,AY505856,AY505857,AY505858,AY505859,AY505860,AY505861,AY505862,AY505863,AY505864,AY505865,AY505866,AY505867,AY505933,AY505934,AY505935,AY505936,AY505937,AY505938,AY505939,AY505940,AY505941,AY505967,AY505968,AY505969,AY505970,AY505971,AY506006,AY506007,AY506008,AY506009,AY506010,AY506011,AY506012,AY506013,AY506014,AY506015,AY506016,AY506017,AY506018,AY506019,AY506020,AY506021,AY506022,AY506023,AY506024,AY506025,AY506026,AY506027,AY506028,AY506005,AY506095,AY506096,AY506097,AY506098,AY506099,AY506100,AY506101,AY506102,AY506103,AY506129,AY506130,AY506131,AY506132,AY506133,AY506134,AY506135,AY506136,AY506137,AY506138,AY506139,AY506140,AY506141,AY506142,AY506143,AY506144,AY506145,AY506146,AY506147,AY506160,AY506161,AY506162,AY506163,AY506164,AY506165,AY506166,AY506167,AY506168,AY506169,AY506195,AY506196,AY506197,AY506198,AY506199,AY506200,AY506159,AY506226,AY506227,AY506228,AY506229,AY506230,AY506231,AY506232,AY506233,AY506234,AY506235,AY506261,AY506225,AY506262,AY506263,AY506030,AY506031,AY506032,AY506033,AY506034,AY506035,AY506036,AY506037,AY506063,AY506064,AY506065,AY506066,AY506067,AY506068,AY506069,AY506070,AY506071,AY506072,AY506073,AY506074,AY506075,AY506076,AY506077,AY506078,AY506079,AY506080,AY506081,AY506029,AY506202,AY506203,AY506204,AY506205,AY506206,AY506207,AY506208,AY506209,AY506210,AY506211,AY506212,AY506213,AY506214,AY506215,AY506216,AY506217,AY506218,AY506219,AY506220,AY506221,AY506222,AY506223,AY506224,AY505972,AY506149,AY506148,AY506150,AY506151,AY506152,AY506153,AY506154,AY506155,AY506156,AY506157,AY506158,AY505973,AY505974,AY505975,AY505976,AY505977,AY505978,AY505979,AY505980,AY505981,AY505982,AY505983,AY505984,AY505985,AY505986,AY505987,AY505988,AY505989,AY505990,AY505991,AY505992,AY505997,AY505998,AY505999,AY506000,AY506001,AY506002,AY506003,AY506004,AY506264,AY506265,AY506266,AY506267,AY506268,AY506269,AY506270,AY506271,AY506272,AY506273,AY506274,AY506275,AY506276,AY506277,AY506278,AY506279,AY506280,AY506281,AY506282,AY506283,AY506284,AY506285,AY506286,AY506294,AY506298,AY506299,AY506300,AY506304,AY506307,AY506308,AY506309,AY506311,AY506312,AY506201,AY506083,AY506084,AY506085,AY506086,AY506087,AY506088,AY506089,AY506090,AY506091,AY506092,AY506093,AY506094,AY506082,AY505919,AY505920,AY505921,AY505922,AY505923,AY505924,AY505925,AY505926,AY505927,AY505928,AY505929,AY505918,AY505930,AY505931,AY505932,AI379664,DC321458,NG_016619,NM_001172574,NM_001172575,AY505712,AY505713,AY505714,AY505715,AY505716,AY505717,AY505718,AY505719,AY505720,AY505721,AY505722,AY505723,AY505724,AY505725,AY505726,AY505728,AY505729,AY505730,AY505731,AY505732,AY505734,AY505735,AY505736,AY505737,AY505738,AY505739,AY505740,AY505741,AY505742,AY505743,AY505769,AY505770,AY505771,AY505772,AY505773,AY505774,AY505733,AY307791,AY307792,AY307817,AY307818,AY307819,AY307820,AY307821,AY307822,AY307823,AY307824,AY307825,AY307826,AY307827,AY307828,AY307829,AY307830,AY307831,AY307832,AY307833,AY307834,AY307835,AY307790,AY307836,AY505571,AY505572,AY505573,AY505574,AY505575,AY505576,AY505577,AY505578,AY505579,AY505580,AY505581,AY505582,AY505583,AY505584,AY505585,AY505586,AY505587,AY505658,AY505659,AY505660,AY505661,AY505662,AY505663,AY505664,AY505665,AY505666,AY505667,AY505668,AY505669,AY505670,AY505671,AY505672,AY505673,AY505674,AY505675,AY505676,AY505677,AY505703,AY505704,AY505705,AY505706,AY505707,AY505708,AY505709,AY505710,AY505711,AY506315,AY506314,AY506316,AY506317,AY506318,AY506320,AY506321,AY506327,AY506328,AY506330,CH471153,AI480294,AK022909,AK023946,AK057995,AK301702,AK308387,BC030702,BC056195,BK004076,CR593857,DB051427 NP_078872,CAC34661,AAQ92669,AAQ92670,AAQ92671,AAQ92672,AAQ92673,AAQ92674,AAQ92675,AAQ92676,AAQ92677,AAQ92678,AAQ92679,AAQ92680,AAQ92681,AAQ92682,AAQ92683,AAQ92684,AAQ92685,AAS86466,AAS86467,AAS86468,AAS86469,AAS86470,AAS86471,AAS86472,AAS86473,AAS86474,AAS86475,AAS86476,AAS86477,AAS86478,AAS86479,AAS86480,AAS86481,AAS86482,AAS86483,AAS86484,AAS86485,AAS86486,AAS86487,AAS86488,AAS86489,AAS86515,AAS86516,AAS86517,AAS86518,AAS86519,AAS86520,AAS86521,AAS86522,AAS86523,AAS86524,AAS86525,AAS86526,AAS86527,AAS86528,AAS86529,AAS86530,AAS86531,AAS86532,AAS86533,AAS86534,AAS87612,AAS87613,AAS87614,AAS87615,AAS87616,AAS87617,AAS87618,AAS87619,AAS87620,AAS87621,AAS87622,AAS87623,AAS87624,AAS87625,AAS87626,AAS87627,AAS87628,AAS87629,AAS87630,AAS87631,AAS87632,AAS87633,AAS87634,AAS87635,AAS87636,AAS87637,AAS87638,AAS87639,AAS87640,AAS87705,AAS87706,AAS87707,AAS87708,AAS87709,AAS87710,AAS87711,AAS87712,AAS87738,AAS87739,AAS87740,AAS87741,AAS87742,AAS87743,AAS87744,AAS87746,AAS87749,AAS87750,AAS87751,AAS87752,AAS87753,AAS87754,AAS87704,AAS87642,AAS87643,AAS87644,AAS87645,AAS87646,AAS87672,AAS87673,AAS87674,AAS87675,AAS87676,AAS87677,AAS87678,AAS87679,AAS87680,AAS87681,AAS87682,AAS87683,AAS87684,AAS87685,AAS87686,AAS87687,AAS87688,AAS87689,AAS87690,AAS87691,AAS87692,AAS87693,AAS87694,AAS87641,AAS87695,AAS87696,AAS87697,AAS87698,AAS87699,AAS87700,AAS87701,AAS87702,AAS87703,AAS87770,AAS87771,AAS87772,AAS87773,AAS87774,AAS87775,AAS87776,AAS87777,AAS87778,AAS87804,AAS87805,AAS87806,AAS87807,AAS87808,AAS87769,AAS87842,AAS87843,AAS87844,AAS87845,AAS87846,AAS87847,AAS87848,AAS87849,AAS87850,AAS87851,AAS87852,AAS87853,AAS87854,AAS87855,AAS87856,AAS87857,AAS87858,AAS87859,AAS87860,AAS87861,AAS87862,AAS87863,AAS87864,AAS87932,AAS87933,AAS87934,AAS87935,AAS87936,AAS87937,AAS87938,AAS87939,AAS87940,AAS87966,AAS87967,AAS87968,AAS87969,AAS87970,AAS87971,AAS87972,AAS87973,AAS87974,AAS87975,AAS87976,AAS87977,AAS87978,AAS87979,AAS87980,AAS87981,AAS87982,AAS87983,AAS87865,AAS87996,AAS87997,AAS87998,AAS87999,AAS88000,AAS88001,AAS88002,AAS88003,AAS88004,AAS88005,AAS88006,AAS88032,AAS88033,AAS88034,AAS88035,AAS88036,AAS88037,AAS88062,AAS88063,AAS88064,AAS88065,AAS88066,AAS88067,AAS88068,AAS88069,AAS88070,AAS88071,AAS88072,AAS88624,AAS88625,AAS87866,AAS87867,AAS87868,AAS87869,AAS87870,AAS87871,AAS87872,AAS87873,AAS87874,AAS87900,AAS87901,AAS87902,AAS87903,AAS87904,AAS87905,AAS87906,AAS87907,AAS87908,AAS87909,AAS87910,AAS87911,AAS87912,AAS87913,AAS87914,AAS87915,AAS87916,AAS87917,AAS87918,AAS88038,AAS88039,AAS88040,AAS88041,AAS88042,AAS88043,AAS88044,AAS88045,AAS88046,AAS88047,AAS88048,AAS88049,AAS88050,AAS88051,AAS88052,AAS88053,AAS88054,AAS88055,AAS88056,AAS88057,AAS88058,AAS88059,AAS88060,AAS88061,AAS87985,AAS87984,AAS87986,AAS87987,AAS87988,AAS87989,AAS87990,AAS87991,AAS87992,AAS87993,AAS87994,AAS87995,AAS87810,AAS87811,AAS87812,AAS87813,AAS87814,AAS87815,AAS87816,AAS87817,AAS87818,AAS87819,AAS87820,AAS87821,AAS87822,AAS87823,AAS87824,AAS87825,AAS87826,AAS87827,AAS87828,AAS87829,AAS87834,AAS87835,AAS87836,AAS87837,AAS87838,AAS87839,AAS87840,AAS87841,AAS87809,AAS88626,AAS88627,AAS88628,AAS88629,AAS88630,AAS88631,AAS88632,AAS88633,AAS88634,AAS88635,AAS88636,AAS88637,AAS88638,AAS88639,AAS88640,AAS88641,AAS88642,AAS88643,AAS88644,AAS88645,AAS88646,AAS88647,AAS88648,AAS88649,AAS88657,AAS88661,AAS88662,AAS88663,AAS88667,AAS88670,AAS88671,AAS88672,AAS88674,AAS88675,AAS87919,AAS87920,AAS87921,AAS87922,AAS87923,AAS87924,AAS87925,AAS87926,AAS87927,AAS87928,AAS87929,AAS87930,AAS87931,AAS87755,AAS87756,AAS87757,AAS87758,AAS87759,AAS87760,AAS87761,AAS87762,AAS87763,AAS87764,AAS87765,AAS87766,AAS87767,AAS87768,NP_001166045,NP_001166046,AAS86590,AAS86591,AAS86592,AAS86593,AAS86594,AAS86595,AAS86596,AAS86597,AAS86598,AAS86599,AAS86600,AAS86601,AAS86602,AAS86603,AAS86604,AAS86606,AAS86607,AAS86608,AAS86609,AAS86610,AAS86589,AAS86611,AAS86612,AAS86613,AAS86614,AAS86615,AAS86616,AAS86617,AAS86618,AAS86619,AAS86620,AAS86621,AAS87606,AAS87607,AAS87608,AAS87609,AAS87610,AAS87611,AAQ92686,AAQ92687,AAQ92688,AAQ92713,AAQ92714,AAQ92715,AAQ92716,AAQ92717,AAQ92718,AAQ92719,AAQ92720,AAQ92721,AAQ92722,AAQ92723,AAQ92724,AAQ92725,AAQ92726,AAQ92727,AAQ92728,AAQ92729,AAQ92730,AAQ92731,AAQ92732,AAS86449,AAS86450,AAS86451,AAS86452,AAS86453,AAS86454,AAS86455,AAS86456,AAS86457,AAS86458,AAS86459,AAS86460,AAS86461,AAS86462,AAS86463,AAS86464,AAS86465,AAS86535,AAS86536,AAS86537,AAS86538,AAS86539,AAS86540,AAS86541,AAS86542,AAS86543,AAS86544,AAS86545,AAS86546,AAS86547,AAS86548,AAS86549,AAS86550,AAS86551,AAS86552,AAS86553,AAS86554,AAS86555,AAS86581,AAS86582,AAS86583,AAS86584,AAS86585,AAS86586,AAS86587,AAS86588,AAS88677,AAS88678,AAS88679,AAS88680,AAS88681,AAS88683,AAS88684,AAS88690,AAS88691,AAS88693,EAW80468,EAW80469,EAW80470,BAB14304,BAG63174,AAH30702,DAA04567,Q6R9U8,Q6RA82,Q6RAB1,Q6RAB6,Q6RAI2,Q6RAP8,Q6RAQ8,Q6RAR7,Q6RAS0,Q6RAS1,Q6RAS2,Q6RAS3,Q6RAS6,Q6RAS8,Q6RAZ4,Q6RB57,Q6RB59,Q6RB60,Q6RBC6,Q6RBJ2,Q6RBQ8,Q6RBX4,Q6W788,Q6W791,Q6W794,Q6W795,Q6W796,Q6W799,Q6W7A2,Q6W7E0,Q6W7E3,Q6W7E4,Q6W7E5,Q8NEM0,Q6RA50 Hs.656769,Hs.708770 BRIT1|FLJ12847|MCT BRCT-repeat inhibitor of TERT expression 1|microcephalin|microcephaly, primary autosomal recessive 1 protein-coding 1351745 MCPH2 microcephaly, primary autosomal recessive 2 4181 1343826 MCPH3 microcephaly, primary autosomal recessive 3 23702 1346684 MCPH4 microcephaly, primary autosomal recessive 4 23701 1344440 MCPH6 microcephaly, primary autosomal recessive 6 170629 1342873 MCPHA microcephaly, Amish 246765 1323153 MCRS1 microspherule protein 1 1580863 18798870,11948183,14667819,15231747,16189514,17353931,9765390,19187526,17109818,17081983,17014843,16964243,16571602,16565220,16547491,16186106,15489334,15345747,15044100,12477932,9654073,15960975,19060904,19549253 10445 NM_006337,NM_001012300,AC020612,CH471111,AF015308,AF068007,AY336730,BC011794,BX538079,CR591814,CR596592,CR596684,CR596853,CR596904,CR597232,CR598264,CR599933,CR609392,CR610893,CR615828,CR618696,CR622765,CR623215,CR624177 NP_006328,NP_001012300,EAW58075,EAW58076,EAW58077,EAW58078,EAW58079,EAW58080,AAC52086,AAC68599,AAQ84517,AAH11794,CAD98003,Q7Z372,Q96EZ8,ABM83813,ABW03528 Hs.25313 ICP22BP|INO80Q|MCRS2|MSP58|P78 58 kDa microspherule protein|INO80 complex subunit J|INO80 complex subunit Q|cell cycle-regulated factor (78 kDa)|cell cycle-regulated factor p78|microspherule protein 1 protein-coding 1351022 MCS Miles-Carpenter X-linked mental retardation syndrome 2018061,1605216 4183 1605937 MCTP1 multiple C2 domains, transmembrane 1 19416921,20379614,15528213,15203218,14702039,12477932 79772 AK297325,NM_024717,NM_001002796,AC008534,AC008573,AC010362,AC012312,AC099507,CH471084,AK025997,AK057694,AK058012,AK091330,AY656715,AY656716,BC030005,CD632270,CR593305,DC410959 BAH12547,NP_078993,NP_001002796,EAW96031,EAW96032,EAW96033,BAB15311,BAB71547,BAC03637,AAT73058,AAT73059,AAH30005,Q6DN14 Hs.655087 FLJ22344 OTTHUMP00000222618|OTTHUMP00000222620|OTTHUMP00000222621|OTTHUMP00000222671|multiple C2 and transmembrane domain-containing protein 1|multiple C2-domains with two transmembrane regions 1 protein-coding 1603987 MCTP2 multiple C2 domains, transmembrane 2 15528213,19223264,18367154,16344560,15342556,14702039,12477932,19483685,20125193,20379614 55784 NM_001159643,NM_001159644,AC103749,AC135626,AK001953,AK002037,AK026984,AK090622,AK300325,AL360258,AL697863,AL832048,AL832717,AY656717,BC025708,BC041387,BC111024,BC131527,BP292512,DA450908,DA862691,NM_018349,FJ515839 NP_060819,NP_001153115,NP_001153116,BAA91998,BAA92048,BAH13258,CAB96177,AAT73060,AAH25708,AAH41387,AAI11025,AAI31528,Q6DN12,Q9NPN6,ACS13731,ACS13732 Hs.33368 FLJ11175|FLJ33303|MGC111402 multiple C2 and transmembrane domain-containing protein 2|multiple C2-domains with two transmembrane regions 2 1 protein-coding 1351081 MCTS1 malignant T cell amplified sequence 1 1580863 9766643,19372582,18824261,15342556,14702039,12938157,12637315,12477932,11709712,8889548,7566098,16169070,20076993,17207965,20658178 28985 NM_014060,NM_001137554,AC011890,CH471107,AA375691,AB034206,AF456465,AK096956,AK294834,AK311993,AW957695,AY364258,BC001013,BC095461,BM671542,BP226595 NP_054779,NP_001131026,EAX11874,EAX11875,BAA86055,AAM50513,BAG57943,BAG34931,AAQ76817,AAH01013,AAH95461,Q8NHH5,Q9ULC4,ADQ33199 Hs.102696,Hs.670803 FLJ39637|MCT-1|MCT1 malignant T cell-amplified sequence 1|multiple copies T-cell malignancies protein-coding 1348817 MDC1 mediator of DNA-damage checkpoint 1 The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq] 1580863 20587610,18001824,18029348,12556884,12607003,15604234,19074885,19001859,18986980,18757370,18678890,18664457,18635967,18583988,18582474,18471438,18411307,20529673,16872911,19759913,21077165,18173747,18001825,17977515,17925396,17827148,17546051,17535811,17525332,17158742,17081983,16427010,16377563,16186822,16051665,16049003,16009723,15734998,15377652,15302935,15279781,15201865,14695167,14574404,14519663,12611903,12607005,12607004,12551934,12499369,12477932,12475977,10975465,8724849,14578343,16901786,17577209,17884766,19638463,19690177,19797077,19804756,19826003,19851445,20081839,20159462,20729195 9656 NM_014641,AB088099,AB202097,AL662797,AL662848,AL845353,BA000025,BX927283,CH471081,CR759873,CR788240,CR936878,AK298749,AK302434,BC110645,BC131491,BC152556,BU621433,CR749828,D79992,EF177820,EF177821,EF177822,EF177823,BX248307 NP_055456,BAC54931,BAE78617,CAI18195,CAI17440,CAI41891,BAB63322,CAQ06770,EAX03321,CAQ08691,CAQ07572,CAQ06814,BAG60892,BAG63736,AAI10646,AAI52557,CAH18685,BAA11487,ABM47418,ABM47419,ABM47420,ABM47421,Q14676 Hs.653495 DKFZp781A0122|KIAA0170|MGC166888|NFBD1 homologue to Drosophila photoreceptor protein calphotin|mediator of DNA damage checkpoint 1|mediator of DNA damage checkpoint protein 1|nuclear factor with BRCT domains 1 protein-coding 1353447 MDCR Miller-Dieker syndrome chromosome region 4186 1353332 MDFI MyoD family inhibitor This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq] 1580863 16189514,8797820,17289077,16713569,15489334,15207726,14574404,14530267,12477932,12107410,11238923,9799236,9250874,19060904,19447967 4188 NM_005586,AL035588,CH471081,AK290735,BC007836,BG818571,CA393148,CR594049,CR610379,CR622975,U78313 NP_005577,CAB54148,CAD92607,CAI22456,CAO72132,CAO72133,CAO72134,CAO72135,EAX04051,EAX04052,EAX04053,BAF83424,AAH07836,AAB39748,Q99750 Hs.520119 I-MF|I-mfa OTTHUMP00000043543|OTTHUMP00000196103|OTTHUMP00000196104|OTTHUMP00000196105|OTTHUMP00000196415|inhibitor of MyoD family a|myoD family inhibitor|myogenic repressor I-mf protein-coding 1607030 MDFIC MyoD family inhibitor domain containing This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. [provided by RefSeq] 12944466,10671520,16260749,12192039,19428567,12477932,11139147,12370022,17064770,17289077,19041912,19582149,20379614,20417616 29969 NM_199072,AC017003,CH236947,CH471070,AF054589,AI668639,AY196485,BC040713,AA406528,CB048531,NM_001166345,NM_001166346 NP_951038,EAW83487,AAF36998,AAF36999,AAP33842,Q9P1T7,AAI56447,NP_001159817,NP_001159818 Hs.427236 HIC I-mfa domain-containing protein|OTTHUMP00000025265|myoD family inhibitor domain-containing protein protein-coding 1315985 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 1580863 15019943,15922729,18384059,16335952,14702039,12082541,20036297,20379614 266727 AK091149,AK091650,AK092308,AK126965,BX647180,BX647253,AF478693,AK055376,NM_153487,AL049553,CH471081,AK090677 Q5TFS8,Q8NFP4,AAI52818,AAI56660,BAC03502,Q5TFS7,NP_705691,CAI20460,CAI20461,EAX03950,EAX03951,EAX03952,EAX03953,EAX03954,AAM77220 Hs.437993 DKFZp686K0262|DKFZp686L0262|FLJ45018|GPIM|MAMDC3 GPI and MAM protein|MAM domain-containing glycosylphosphatidylinositol anchor protein 1|MAM domain-containing protein 3|OTTHUMP00000016332|glycosyl-phosphatidyl-inositol-MAM|glycosylphosphatidylinositol-MAM protein-coding 1343433 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 1580863 15019943,18029348,18762592,17903294,16344560,14702039,12975309,12508121,12477932,19913121,20628086,19440164,19557195,19997561,20125193,20379614 161357 NM_182830,NM_001113498,AL157792,AL162551,AL358832,AL359951,AL591771,CH471078,AK123307,AK309211,AY328482,AY358125,AY369208,BC028193,BC142947,BX538065,DB041561,AL079306 NP_878250,NP_001106970,EAW65772,EAW65773,EAW65774,BAG53887,AAP97010,AAQ88492,AAQ73312,Q7Z553,AAI60160 Hs.436380 MAMDC1|c14_5286 MAM domain containing 1|MAM domain-containing glycosylphosphatidylinositol anchor protein 2|MAM domain-containing protein 1|OTTHUMP00000179128|mam domain containing 1 protein-coding 732327 MDH1 malate dehydrogenase 1, NAD (soluble) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the cytoplasm and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. [provided by RefSeq] 1580863,1300048 15565635,8786100,19229245,19110265,18996102,15815621,15489334,12477932,10190973,10075524,9799840,7895732,7698769,7151307,3052244,2775751,2449162,16169070,20029029,18029348,20877624,20011630,20602615 4190 AC016734,CH471053,AK295931,AK300719,AK307273,AK312331,BC001484,CR457405,CR594032,CR598586,CR603513,NM_005917,CR609240,CR619426,CR622929,D55654,U20352,CR606360,BI667299,CB266998,NM_001199111,NM_001199112 NP_005908,AAY14893,EAW99959,EAW99960,EAW99961,EAW99962,EAW99963,BAH12223,BAG62394,BAG35252,AAH01484,CAG33686,BAA09513,AAC16436,P40925,NP_001186040,NP_001186041 Hs.526521 MDH-s|MDHA|MGC:1375|MOR2 OTTHUMP00000202070|cytosolic malate dehydrogenase|malate dehydrogenase, cytoplasmic|soluble malate dehydrogenase protein-coding 1317321 MDH1B malate dehydrogenase 1B, NAD (soluble) 20379614,12477932 130752 NM_001039845,AC008269,CH471063,AK058070,AK292378,AK292386,AK302250,AK308257,AK309144,BC033509,BC088356,BI464613,CR593018 NP_001034934,AAX93274,EAW70392,EAW70393,BAF85067,BAF85075,BAG63602,AAH33509,AAH88356,Q5I0G3 Hs.147816 FLJ25341|RP11-95H11 OTTHUMP00000206519|putative malate dehydrogenase 1B protein-coding 733026 MDH2 malate dehydrogenase 2, NAD (mitochondrial) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. [provided by RefSeq] 1580863,2306828,1582465,1582468,1582470,1300048 9792662,16740313,6576816,17603759,16751257,15635413,15592455,15489334,14702039,12853948,12477932,11029287,10075524,9792106,8401585,8349677,7698769,7285903,6439716,3591372,2899080,2759092,1602151,1505215,606506,16169070,20379614,18029348,20877624 2306828,1582465,1582468,1582470 4191 DQ402957,NM_005918,AC005077,AC006330,CH471220,AF047470,AK095803,AK290779,AK293460,AK316587,BC001917,CR536548,CR590302,CR591002,CR591867,CR592414,CR592770,CR593897,CR594479,CR595903,CR599784,CR600726,CR602693,CR603586,CR604994,CR608858,CR609305,CR609833,CR611271,CR613026,CR614342,CR615128,CR615222,CR615946,CR618110,CR619490,CR622625,CR624429,CR625644,CR626170 ABD77290,P40926,Q0QF37,Q6FHZ0,Q75MP7,Q75MT9,ABM84006,ABM87340,NP_005909,AAS07425,AAS07534,EAW71796,EAW71797,EAW71798,AAC03787,BAG53133,BAF83468,BAG56955,BAG38175,AAH01917,CAG38785 Hs.520967 M-MDH|MDH|MGC:3559|MOR1 OTTHUMP00000210118|malate dehydrogenase, mitochondrial protein-coding 69142 MDK midkine (neurite growth-promoting factor 2) 1581202,1580863,1581200,1582484,1582476,1299187,1582475,1582478,1582488 15489334,15355893,15340161,15201962,15146411,15146197,15138367,15050737,14970216,12841873,12579281,12477932,12175547,12147681,12127679,12122009,12077357,11925507,11048798,10772929,10706604,10212223,9452495,9089390,8694802,8621465,8471163,8406506,2025291,1883381,1768439,1701366,16169070,1639750,9384573,7835084,19409372,19250738,19060126,19016768,18985819,18956201,18851943,18712601,18698021,18682710,18657127,18469519,18422745,18329695,18195496,18176965,17971413,17931612,17845207,17607302,17493173,17451201,17379400,17368428,17267033,17171794,17066487,16895951,16713569,16341674,15897897,15781266,15734764,20442752,19112919,19538527,19698107,19728850,20308059,20447063,20350697,20525245,15197188,20544404,20811700,20511550,20694011 1581202,1581200,1582484,1582476,1299187,1582475,1582478,1582488 4192 CR624204,DQ323888,DQ323889,DQ323890,M69148,X55110,CR614410,NM_002391,NM_001012333,AC116021,CH471064,D10604,M94250,AK130889,AK308210,AK309963,BC011704,BM016739,BM761575,CN266376,CR590366,CR601916,CR602072,NM_001012334 ABC55425,ABC55426,ABC55427,AAA58478,CAA38908,P21741,Q2LEK2,Q2LEK3,Q2LEK4,ABM84146,ABM87548,NP_001012334,NP_002382,NP_001012333,EAW68005,BAA01457,AAA59850,AAH11704 Hs.82045 FLJ27379|MK|NEGF2 ARAP|OTTHUMP00000197041|OTTHUMP00000197042|OTTHUMP00000197045|amphiregulin-associated protein|midgestation and kidney protein|midkine|neurite outgrowth-promoting factor 2|neurite outgrowth-promoting protein protein-coding 1352515 MDM1 Mdm1 nuclear protein homolog (mouse) This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles and is amplified in the mouse transformed 3T3 cell line, and the protein is able to bind to p53. In mouse several transcripts have been described for this gene which result from alternative polyadenylation, splicing and exon usage. [provided by RefSeq] 18805803,16341674,12477932,9110174,8619474,3182840 56890 NM_017440,NM_020128,AC022511,CH471054,AF007130,AF267851,AK026745,AK297311,AK314461,BC010622,BC022042,BC028355,BC034945,BM787113,CD704611 NP_059136,NP_064513,EAW97183,EAW97184,EAW97185,AAC19149,AAF78952,BAG59777,BAG37069,AAH22042,AAH28355,Q8TC05 Hs.655702 FLJ95264 Mdm4, transformed 3T3 cell double minute 1, p53 binding protein|nuclear protein MDM1|nuclear protein double minute 1 protein-coding 1313299 MDM2 Mdm2 p53 binding protein homolog (mouse) This gene is a target gene of the transcription factor tumor protein p53. The encoded protein is a nuclear phosphoprotein that binds and inhibits transactivation by tumor protein p53, as part of an autoregulatory negative feedback loop. Overexpression of this gene can result in excessive inactivation of tumor protein p53, diminishing its tumor suppressor function. This protein has E3 ubiquitin ligase activity, which targets tumor protein p53 for proteasomal degradation. This protein also affects the cell cycle, apoptosis, and tumorigenesis through interactions with other proteins, including retinoblastoma 1 and ribosomal protein L5. More than 40 different alternatively spliced transcript variants have been isolated from both tumor and normal tissues. [provided by RefSeq] 1580863,2293626,2317393,2317412,2317415,2317417,2317397,2317401,2317409,2317361,2317414,2317357,2316186,2317416,2316155,2316156,2317395 20657550,20659896,20733054,20554519,20639885,20708156,20172729,20453884,11046142,10562557,15355988,15950904,15867431,12582152,15577944,15525514,15321712,15558054,9653180,15735750,15242646,15210108,12842086,9271120,15577914,17936559,15053879,9450543,10722742,7791904,11278372,10608892,10360174,10982879,11178989,11223036,11384992,11588219,15604276,15622743,15733365,15848166,16678796,16845383,16943424,16964247,17098746,17110929,17170761,17290220,17353187,17363365,17369817,17380154,17470788,17546054,17591690,17875722,17909018,18311135,18815136,19062713,19170196,19346994,19379464,19433585,19454362,19455066,19468865,19483087,19488782,19505873,19507240,19509552,19541625,19560264,19573916,19580521,19617712,19619542,19625176,19631207,19648117,19649205,19656744,19657064,19671680,19679062,19690970,19692168,19696166,19707196,19751436,19752772,19756449,19759023,19764997,19772793,19773279,19773383,19779722,19784069,19789190,19816404,19821490,19833129,19837266,19838211,19861417,19861461,19874399,19879840,19934289,19938200,19941079,19941740,19945467,19954744,19955655,19965871,20019189,20021639,20025780,20080680,20081368,20089965,20110711,20145180,20153724,20173098,20200430,20204299,20219101,20232390,20232446,20306673,20308654,20358297,20380574,20398418,20431480,20447891,20453000,20491880,20503107,20520810,20535124,20538323,9278461,9632782,19946469,20591651,21034743,20736372,20832750,20875869,20713061,9153395,11715018,10707090,11331603,19639206,19596022,19594747,19590949,19573080,19542078,19541936,19526525,19524506,19523862,19521721,19492228,19470936,19470478,19451596,19448627,19423162,19411066,19383811,19372219,19363159,19357310,19344876,19339270,19321440,19318567,19318491,19305137,19303885,19302219,19287195,19286999,19264476,19255450,19249676,19247369,19246469,19244339,19237606,19237173,19233569,19226467,19219073,19217357,19204927,19193430,19188367,19176998,19166854,19160491,19150978,19144715,19144119,19128510,19124506,19124015,19116388,19106616,19098711,19098288,19094228,19082401,19081178,19075013,19074170,19064572,12915590,19046423,19033382,19029954,19029147,19020940,19015838,18080767,18026875,18023538,17984062,17981213,17957785,17942278,17938575,17914240,17909070,17895748,17879958,17848574,17846171,17827408,17721920,17719241,17717065,17698841,17697133,17684142,17684018,17680991,17671841,17671677,17640893,17638920,17634539,17627285,17620186,17616682,17616658,17592964,17576019,17568997,17553029,17545546,17545525,17538168,17537232,17536310,17527046,17525743,17513604,17500067,17498302,17488676,17473193,17468107,17460193,17426254,17387621,17373842,17371838,17360557,17359998,17354236,17349959,17339337,18976073,18953830,18951086,18950845,18922973,18836421,18835771,18828900,18826207,18814047,18809412,18804411,18799058,18781178,18779328,18754770,18725577,18723444,18711402,18706692,18676680,18665269,18646312,18644346,18638452,17327702,17310983,17302414,17242401,17237821,17226766,17214373,17188136,17171684,17170710,17159902,17139261,17123590,17120309,17116689,17110379,17096342,17094469,17080308,17060450,17056014,17018606,17018602,17013834,17006543,17003841,16984978,16983111,16980628,16965791,16934800,16914573,16905769,16896050,16892553,16883576,16877339,16876289,16870621,16866370,16861890,16825434,16825430,16818855,16815295,16803902,16751805,16738062,16737965,16696307,16675470,16636310,16624822,16624812,16621805,16579792,16563154,16510145,16496380,16479015,16478747,16474402,16439685,16434608,16432196,16402859,16394138,16343421,16337594,16288830,16287156,16258514,16258005,16246554,16239061,16230424,16219768,16212962,16203772,16202543,16170383,16167062,16163388,16159876,16152608,16142358,16107876,16082221,16055726,16027727,15985438,15953616,15943041,15916963,15908423,15902285,15878855,15876864,15866118,15862297,15843377,15832769,15807633,15788536,15782125,15771712,15742432,15734743,15734740,15723837,15720187,15720186,15720185,15720184,15714438,15688025,15644444,15632057,15550242,15548678,15546622,15527798,15492852,15485814,15448710,15375804,15337531,15315825,15314174,15314173,15308643,15218947,15192123,15144954,15029243,15024701,15024078,15013777,15001356,14769800,14761977,14757843,14756544,14741215,14731389,14729628,14723816,14720195,14671306,14633995,14614050,14612427,14610316,14596917,14587869,14565663,14559824,14522887,14507994,14507915,14499615,12963717,12944468,12927808,12926050,12883554,12874296,12860999,12821780,12782320,12750288,12730202,12661905,12646252,12687276,12620409,12606552,12582944,12565795,12556559,12552135,12538596,12507556,12488444,12483531,12477932,12450795,12426395,12421820,12414343,12393906,12393902,12381304,12372616,12297306,12232053,12231395,12208736,12167711,12150820,12138177,12110584,12085228,12082592,12082526,12080472,12068014,12052755,12032546,11983168,11964305,11960904,11960368,11956627,11953887,11953423,11939408,11927554,11925449,11923280,11894120,11877395,11867628,11859876,11839577,11839563,11779693,11764099,11744695,11718560,11709713,11562347,11504915,11351297,11307150,11172000,11087894,10949923,10906133,10871849,10723139,10721693,10713175,10640274,10611322,10597303,10561590,10218570,10207051,10078201,9809062,9529249,9529248,9388200,9363941,9270029,9153396,9070662,8875929,8705862,8219216,8058315,7935455,7689721,7686617,7651818,7606365,7590734,1614537,1535557,17974989,18583933,19166840,19071110,18485870,18309296,18223694,18172499,17908790,12620407,10766163,18206965,19015526,18948082,18544533,10435614,11073989,12640129,15195100,12759344,14578343,12867035,12145204,16009130,16023600,15933712,15963787,15824742,9223638,11597128,10781812,10822382,15280377,18632619,18618574,18612801,18607552,18604177,18582208,18577987,18575717,18572327,18568525,18566590,18559624,18558393,18548200,18548093,18547962,18520179,18519798,18519749,18508789,18504050,18500263,18499675,18487080,18480108,18471438,18467716,18467333,18462472,18459109,18451149,18433491,18433484,18426989,18426907,18423915,18398041,18390844,18382127,18381604,18359851,18356162,18355939,18348658,18332869,18332867,18332046,18317451,18314481,18313915,18292944,18281248,18269578,18264029,18262501,18235222,18234968,18234963,18219319,18214854,18204439,18199985,18199551,18096571,18086887,18086778,21093410,20588255,20582981,20370686,20388212,20528739,20547751,20196171,20308078,20438709,20479273,20849854,16227609,16547496,16714300,16857591,19085961,19223463,19690564,20951946,19842060,20849851,15064742,15122315,15295102,15314155,19799083,20601938,21060154,15542844,15640443,15975924,20813000,20822933,20855462,20922573,20979563,21047201,21048031,21051533,21051655,19941302,20587610,20591429,20598683,20644561,20664183 2293626,2317393,2317412,2317415,2317417,2317397,2317401,2317409,2317361,2317414,2317357,2316186,2317416,2316155,2316156,2317395 4193 AF385324,AJ517840,CH471054,U28935,U39736,AA708958,AF092843,AF092844,AF092845,AF201370,AF201371,AF385322,AF385323,AF385325,GQ848196,NG_016708,NM_002392,AC025423,AF527840,AJ251943,AJ517838,AJ517839,AJ276888,AJ278975,AJ278976,AJ278977,AJ278978,AJ430612,AJ430613,AJ430614,AJ491698,AJ491699,AJ491700,AJ491701,AJ550516,AJ550517,AJ550518,AJ550519,AJ550520,AK290341,BC006795,BC065505,BC107414,BC152384,BC152390,BE296905,BF208689,BT007258,EU076746,EU076747,EU076748,EU076749,M92424,U33199,U33200,U33201,U33202,U33203,Z12020,AF385327,HM213901,HM213902,HM213903,HM213904 AAL13244,CAD57167,CAD57168,EAW97201,EAW97202,EAW97203,EAW97204,EAW97205,EAW97206,EAW97207,EAW97208,EAW97209,EAW97210,EAW97211,EAW97212,EAW97213,EAW97214,AAA82237,AAA82061,AAL40178,AAL40179,AAL40180,AAF42995,AAL13242,AAL13243,AAL13245,Q86WA3,Q86WA4,Q86WA5,Q8NDV9,Q8NDW0,Q8NDW1,Q8NDW2,Q8TE46,Q8TE47,Q8WYJ3,Q96DS0,Q96DS2,Q96DS4,Q96DS5,Q9H4C2,Q9H4C3,Q9H4C4,Q9H4C5,AAI48523,AAI53118,ACX31156,Q96DS3,NP_002383,AAM78554,CAB64448,CAD57166,AAL13247,CAC07809,CAC07810,CAC07811,CAC07812,CAD23251,CAD23252,CAD36959,CAD36960,CAD36961,CAD36962,CAD79455,CAD79456,CAD79457,CAD79458,CAD79459,BAF83030,AAI52385,AAI52391,AAP35922,ABT17083,ABT17084,ABT17085,ABT17086,AAA60568,AAA75514,AAA75515,AAA75516,AAA75517,AAA75518,CAA78055,Q00987,Q546E6,Q86WA2 Hs.484551 HDMX|MGC5370|MGC71221|hdm2 E3 ubiquitin-protein ligase Mdm2|MDM2 variant FB28|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein|OTTHUMP00000183490|OTTHUMP00000183492|OTTHUMP00000183494|OTTHUMP00000183495|OTTHUMP00000183496|OTTHUMP00000183497|double minute 2, human homolog of; p53-binding protein|oncoprotein Mdm2|ubiquitin-protein ligase E3 Mdm2 protein-coding 1319584 MDM4 Mdm4 p53 binding protein homolog (mouse) The human MDM4 gene, which plays a role in apoptosis, encodes a 490-amino acid protein containing a RING finger domain and a putative nuclear localization signal. The MDM4 putative nuclear localization signal, which all Mdm proteins contain, is located in the C-terminal region of the protein. The mRNA is expressed at a high level in thymus and at lower levels in all other tissues tested. MDM4 protein produced by in vitro translation interacts with p53 via a binding domain located in the N-terminal region of the MDM4 protein. MDM4 shows significant structural similarity to p53-binding protein MDM2. Two transcript variants, one protein-coding and the other likely not to be protein-coding, have been found for this gene. [provided by RefSeq] 1580863,2316155,2316156 20417304,20172729,10469568,10608892,12101245,14660608,9226370,19497887,19470478,19305137,19255450,19153082,19084022,19075013,18826207,18785023,18677113,18644346,18451213,18356162,18335186,18279506,18172009,18086887,17651783,17616658,17159902,17110929,17080083,17018606,16943424,16710414,16616333,16510145,16266988,16163388,16082221,16027727,15944197,15907800,15906355,15876864,15788536,15782125,12532331,19946469,16024788,16227609,21084273,20472715,20819778,20855462,20863813,15489334,15199139,14739777,12963717,12860999,12640683,12483531,12477932,12393902,12370303,12162806,12107410,11953423,11840567,11840332,11528400,11297540,10218570,9373149,8895579,8125298,18485870,18219319,15916963,15735705,19913121,20628086,20677014,20713061,11223036,15604276,16511560,16511572,17875722,19507240,19580521,19619542,19721810,19734545,19762336,19838211,20062013,20379614,20520810,20724842 2316155,2316156 4194 NR_024171,AL512306,AY207458,CH471067,AB209383,AF007111,AK223228,AK303626,AK304698,AK310607,AK310903,AY923176,AY949028,BC025993,BC067299,BC105106,BC143431,BC143432,BM475824,BX640923,CA395099,CR605311,CR613023,CR749470,NM_002393 NP_002384,CAI14097,CAI14098,CAI14100,CAI14101,AAO13494,EAW91515,EAW91516,BAD92620,AAB62928,BAD96948,BAG64634,BAG65468,AAY22054,AAX51227,AAH67299,AAI05107,CAE45961,CAH18300,O15151,Q2M2Y2,Q32SL2,Q58HK1,Q59FS6,Q5T0Y3,Q68DC0,Q6MZR7 Hs.497492 DKFZp781B1423|HDMX|MDMX|MGC132766|MRP1 MDM4-related protein 1|Mdm4, transformed 3T3 cell double minute 4, p53 binding protein|double minute 4 homolog|double minute 4 protein|double minute 4, human homolog of; p53-binding protein|mdm2-like p53-binding protein|p53-binding protein Mdm4|protein Mdm4|protein Mdmx protein-coding 1314985 MDN1 MDN1, midasin homolog (yeast) 1580863 12102729,17081983,15635413,15302935,14574404,12477932,9205841,19773279 23195 BC020432,BC036888,BC040330,CR627399,NM_014611,AL096678,AL158813,AL353692,CH471051,AB002299,AF503925,AK027048,AK098453,AK124025,AK125181,BC014882 CAH10492,Q6AI22,Q6PJJ1,Q6ZVV6,Q9NU22,NP_055426,CAI42279,CAI13203,CAI16236,EAW48545,EAW48546,BAA20761,AAM77722,BAC85754,AAH14882 Hs.529948 DKFZp686H16106|FLJ23395|FLJ25587|FLJ42031|FLJ43191|KIAA0301 MIDAS-containing protein|midasin protein-coding 1601722 MDP1 magnesium-dependent phosphatase 1 12477932,10889041,16670083,15489334,14702039,16344560,17207965 145553 NM_138476,AL096870,CH471078,AK092821,AK312038,BC009495,BC046912,BC051382,AA918790,CB046258,DA287183,NM_001199821,NM_001199822 NP_612485,EAW66060,EAW66061,EAW66062,EAW66063,EAW66064,BAC03984,BAG34975,AAH46912,AAH51382,Q86V88,NP_001186750,NP_001186751,ADQ32179 Hs.220963 FN6PASE|FN6Pase|MDP-1|MGC5987 fructosamine-6-phosphatase|magnesium-dependent phosphatase 1 protein-coding 1349726 MDRV muscular dystrophy, with rimmed vacuoles 4195 1319408 MDS1 myelodysplasia syndrome 1 1580863 8643684,15489334,12477932,8171026,11552981,12927815,16582916 4197 CR541866,CR541886,DC347146,U43292,U43293,NM_004991,AC007849,AC024099,AC069220,AC074033,AC078985,CH471052,BC069498 CAG46664,CAG46684,AAB05839,AAB05840,Q13465,Q6FH90,AAH69498,NP_004982,EAW78549,EAW78550 Hs.659873 MDS1-EVI1|PRDM3 protein-coding 2304163 MDS2 myelodysplastic syndrome 2 translocation associated 20700443,16710414,12477932,12203785 259283 BC069164,NR_027042,AL451000,AJ310434,BC041472 CAH71470,CAD27416 Hs.523369 RP11-223J15.1 miscrna 736133 ME1 malic enzyme 1, NADP(+)-dependent, cytosolic This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq] 1580863,1300048 2015102,1088824,16344560,19416979,7622060,8187880,18029348,19464998,19293334,18660489,16757477,15489334,14574404,12477932,12121650,11358520,11352855,11085912,9373149,9174159,8804575,8125298,7757881,7496989,4689040,3169368,20877624 4199 DA520723,NM_002395,A38056,AL049699,AL136970,AL391416,CH471051,L34809,AJ420574,AK223417,AK289783,AK301875,AK302777,BC017403,BC025246,BX376125,CR591849,CR601714,L34035,U43944,X77244 NP_002386,CAA02318,CAI22634,CAC19505,CAH73129,EAW48664,AAD15054,BAD97137,BAF82472,BAG63311,BAG63982,AAH17403,AAH25246,AAB01380,AAC50613,CAA54460,P48163,Q8WVX2,ABM83081,ABW03488 Hs.21160 HUMNDME|MES Malic enzyme, cytoplasmic|NADP-ME|NADP-dependent malic enzyme|malate dehydrogenase|malic enzyme 1|malic enzyme 1, soluble|pyruvic-malic carboxylase protein-coding 1321157 ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. [provided by RefSeq] 1580863 18029348,19691144,1993674,19066393,17638511,17418816,16344560,16190936,16171388,15532013,14760703,12962632,12665801,12477932,12121650,11401430,11358520,10913357,10700286,10477256,10467136,7757881,7496989,3689803,680703,511162,21116278,20877624 4200 BI559761,CD370709,DA644731,NG_016198,NM_001168335,NM_002396,AB045122,AC015864,AC087687,CH471096,AJ294818,AK313391,AU119085,BC000147,BI465083,CR597158,M55905 NP_001161807,NP_002387,BAB40980,EAW62980,EAW62981,EAW62982,CAC14574,BAG36189,AAH00147,AAA36197,P23368,Q9BWL6 Hs.233119 ODS1 NAD-ME|NAD-dependent malic enzyme, mitochondrial|malate dehydrogenase|pyruvic-malic carboxylase protein-coding 1322332 ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 1580863 7818469,19236308,18959763,14702039,12477932,8889548,511162,12023963,20471030,19416979,20379614,20800603,20877624 10873 NM_006680,NM_001014811,NM_001161586,AP001148,AP001831,AP002492,CH471076,AA403046,AA449933,AI198184,AI560417,AI948779,AK092181,AK300974,AK313695,AY424278,BC022472,BM906572,BQ882896,CB306059,DC388623,X79440 NP_006671,NP_001014811,NP_001155058,EAW75138,EAW75139,EAW75140,EAW75141,EAW75142,BAC03822,BAH13386,BAG36442,AAR04784,AAH22472,CAA55956,Q16798,Q6TCH8,Q8NAS5,Q8TBJ0,ABM83306,ABM84211,ABM87616 Hs.199743 FLJ34862 NADP-ME|NADP-dependent malic enzyme, mitochondrial|malate dehydrogenase|malic enzyme, NADP+-dependent, mitochondrial|mitochondrial NADP(+)-dependent malic enzyme 3|pyruvic-malic carboxylase protein-coding 1346327 MEA1 male-enhanced antigen 1 1580863 16189514,2813404,15489334,14574404,12477932,12444059 4201 NM_014623,AL136304,CH471081,AA448322,AK309759,BC001754,BQ232807,BT009831,CR606344,L10400,M27937 NP_055438,CAI19794,EAX04135,AAH01754,AAP88833,AAA36209,AAA36208,Q16626 Hs.278362 HYS|MEA MEA-1|Male-enhanced antigen (H-Y structural gene)|male-enhanced antigen|male-enhanced antigen 1 protein-coding 1604318 MEAF6 MYST/Esa1-associated factor 6 17903294,16710414,16387653,16189514,15647280,15489334,14966270,14702039,12963728,12601173,12477932,9373149,9110174,8619474,8125298,17207965,16230350,18794358,19060904,19187766 64769 NM_022756,AL034379,CH471059,AK021792,AK225434,AK225598,AK308118,AK309663,AY007166,AY211926,BC016328,BC043239,BC056406,BX538212,BX640719,CR590031,CR591880,CR592656,CR596619,CR599081,CR607833,CR610825,CR611127,DQ099384 NP_073593,CAI20547,CAI20548,CAI20549,CAI20550,EAX07339,EAX07340,EAX07341,EAX07342,EAX07343,EAX07344,BAB13898,AAO65179,AAH16328,AAH56406,CAD98071,CAE45838,AAZ13760,Q9HAF1,ACE86515,ACE87691,ACE87002,ADQ33137 Hs.17118 C1orf149|CDABP0189|Eaf6|FLJ11730|NY-SAR-91|RP3-423B22.2 Esa1p-associated factor 6 homolog|OTTHUMP00000004403|chromatin modification-related protein MEAF6|esa1-associated factor 6 homolog|hEAF6|protein EAF6 homolog|sarcoma antigen NY-SAR-91 protein-coding 1343918 MEAX myopathy with excessive autophagy 4202 1343734 MEB muscle-eye-brain disease 9915951 4203 1322216 MECOM MDS1 and EVI1 complex locus 1580863 20634891,20700443,20842122,11328817,17635584,8643684,19385966,19241117,19208846,19010836,18815193,18752846,18619962,18452556,18272813,18262061,18181178,17894555,17693194,17693189,17507183,17243162,17014970,16582916,16342172,16014322,15914564,15897867,15849193,15489334,14555651,12477932,12461752,12393383,14603251,18500823,19352083,19430479,19430483,19605700,19767769,19776757,20084277,20098431,20308656,20357826,20363750,20379614,11922610,11568182,11313276,11181995,11050005,10856240,9724649,9665135,8700545,8557637,8313895,8171026,2115646,11552981,20512145,20532840 2122 NM_004991,NM_001105078,NM_005241,NM_001105077,NM_001163999,NM_001164000,AC007849,AC024099,AC069220,AC074033,AC078985,CH471052,AA043944,AF164154,AF164155,AF164156,AF164157,AF487422,AF487423,AF487424,AK025934,AK292865,AK304098,AK308404,AK310509,AL700380,BC012450,BC031019,BC069498,BC130520,BC143951,BC143952,BX484790,BX640908,BX647613,CR541866,CR541886,DC347146,DC348381,GQ352634,S82592,U43292,U43293,X54989 Q9UBK3,ACE87488,ACE86801,NP_004982,NP_001098548,NP_005232,NP_001098547,NP_001157471,NP_001157472,EAW78549,EAW78550,EAW78552,EAW78553,EAW78554,EAW78555,EAW78556,EAW78557,EAW78558,EAW78559,AAF04008,AAF04009,AAF04010,AAF04011,AAN39687,AAN39688,AAN39689,BAF85554,BAH14103,AAH31019,AAH69498,AAI30521,AAI43952,AAI43953,CAE45952,CAI46086,CAG46664,CAG46684,ACU31119,AAB37456,AAB05839,AAB05840,CAA38735,Q03112,Q13465,Q8IU84,Q8IZU7 Hs.659873,Hs.656395,Hs.722158 AML1-EVI-1|EVI1|MDS1|MDS1-EVI1|MGC163392|MGC97004|PRDM3 AML1-EVI-1 fusion protein|MDS1 and EVI1 complex locus protein EVI1|MDS1 and EVI1 complex locus protein MDS1|OTTHUMP00000213163|OTTHUMP00000213164|OTTHUMP00000213165|OTTHUMP00000213187|OTTHUMP00000213192|ecotropic viral integration site 1|ecotropic virus integration site 1 protein homolog|myelodysplasia syndrome 1 protein|myelodysplasia syndrome-associated protein 1|oncogene EVI1|zinc finger protein Evi1 protein-coding 1349232 MECP2 methyl CpG binding protein 2 (Rett syndrome) DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq] 728918,1601318,1601319,1601320,1580863 14981718,14974082,14649549,14649548,14647463,14623222,14612906,14598336,14560307,14529314,12966523,12966522,12872250,12770674,12746406,12707946,12646234,12640384,12615169,12567420,12555243,12545250,12535940,12481990,12477932,12449561,12442230,12384770,12325019,12210319,12180070,12170461,12161600,12111644,12111643,12107440,12081725,12075485,12030010,11955928,11930274,11913564,11896461,11896459,11885030,11836365,11809720,11807877,11805248,11768391,11748221,11738883,11706982,11691937,11524741,11524737,11462237,11441023,11432961,11402105,11376998,11313756,11309367,11283202,11269512,11241840,11238684,11214906,11076863,11055898,11022934,11007980,10991689,10991688,10986043,10944854,10854091,10814719,10814718,10767337,10745042,10723722,16647997,16613900,16473305,16399702,16389588,16381901,16331274,16251272,16199017,16183801,16182497,16182491,16080119,16077736,16077729,15959553,15954098,15917271,15857422,15814190,15809268,15772651,15757975,15712379,15689435,15689352,15675358,15635068,15578581,15557528,15526354,15489336,15489334,15367913,15351775,15302935,15211631,15057977,15034579,15034150,18512755,18499664,18477000,18434641,18385275,18337588,18332345,18320046,18310203,18295506,18190595,18184939,18174559,18174548,18075316,18042715,18029348,17986102,17968969,17965612,17965611,17881312,17712354,17701895,17684768,17660293,17634428,17531413,17486180,17486179,17440498,17427193,17420401,17413451,17407838,17387578,17383248,17351020,17339270,17309881,17236109,17172942,17171659,17142618,17101771,17101000,17089071,17088400,17084570,17026625,16966553,16932552,16905679,16879196,16832102,16763620,16708070,16682435,16681803,16672765,9620804,17296936,15696166,10773092,19652677,19562714,19559301,19552836,19495527,19386901,19365833,19333917,19331822,19324899,19309283,19309269,19194883,19189931,19174478,19165708,19133691,19125863,19119840,19058789,19058783,19057379,19034540,19018795,19000991,18989701,18985075,18842453,18820302,18773074,18688080,18666890,18652533,18535484,19573459,21085180,19914908,20098342,20420693,20682201,19592282,19806472,20425298,20425814,10518942,10508514,10398236,10369871,10232754,9710633,9620779,9546328,9377804,9222958,9171351,9038338,8976388,8672133,8563762,1606614,14633992,10577905,10756192,11256614,12399542,12427740,12473678,14593184,14618241,15056664,15109260,15322089,1569166,16331260,16780651,17698499,19168818,19190538,19442733,19464849,19664534,19717458,19722030,19724012,19736351,19820693,19844254,19897480,19898528,19900619,20007372,20031356,20032179,20032810,20035514,20065105,20093853,20116947,20345957,20376788,20405910,20425824,20479760,20491871,20207612,20504995,19913121,20215141,20628086,20661168,20728410,20881011 728918,1601318,1601319,1601320 4204 NM_001110792,NG_007107,AF030876,CH471172,X94628,AB209464,AF158180,AJ132917,AK289444,AY541280,BC011612,BC031833,BX538060,CR598471,CR604541,CR612728,L37298,X89430,X99686,Y12643,NM_004992,GQ203294,GQ203295,HM020402,HM156732,HM156733,GQ203293,GQ896382,GU479943,GU812285,GU812286,HQ154629 NP_004983,NP_001104262,AAC08757,EAW72757,EAW72758,EAW72759,CAA64331,BAD92701,AAF33023,CAB46446,BAF82133,AAS55455,AAH11612,AAH31833,CAD97991,AAC32737,CAA61599,CAA68001,CAA73190,P51608,Q59FJ6,Q8N5Q5,CAL37435,ABM82865,ABW03457,ACS92726,ADG26557,ADK25710,ADK25711,ACS92725,ACY24448,ADD17354,ADE87881,ADE87882,ADM88591 Hs.200716,Hs.568124 AUTSX3|DKFZp686A24160|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT OTTHUMP00000199821|meCp-2 protein|methyl-CpG-binding protein 2|mutant methyl CpG binding protein 2|mutant methyl CpG binding protein 2 transcript 1 protein-coding 733084 MECR mitochondrial trans-2-enoyl-CoA reductase 12654921,18479707,16710414,15489334,14702039,12477932,10810093,9795230,9373149,8125298,20877624 51102 NM_001024732,NM_016011,AL590729,CH471059,AF151821,AK025830,AK095099,AK225687,AK226084,AK300889,AK315274,AL711403,BC001419,CR456703,CR604427,CR616740,CR624586,CR626137 NP_001019903,NP_057095,CAI14327,CAI14329,CAI14330,EAX07653,EAX07654,EAX07655,EAX07656,AAD34058,BAG52984,BAG62530,AAH01419,CAG32984,Q9BV79 Hs.183646 CGI-63|FASN2B|NRBF1 NRBF-1|homolog of yeast 2-enoyl thioester reductase|hsNrbf-1|mitochondrial 2-enoyl thioester reductase|nuclear receptor binding factor 1|nuclear receptor-binding factor 1|trans-2-enoyl-CoA reductase, mitochondrial protein-coding 1351174 MED1 mediator complex subunit 1 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq] 1580863 19913121,20628086,20398753,20520624,12130544,12101254,12089346,12082103,11912212,11867769,11840331,11724781,11266503,11118038,10733574,10485914,10478845,10024883,9989412,9653119,9444950,9325263,8710870,7776974,12837248,10944516,10508170,15989967,12738788,10198638,10235266,16554032,16799563,12218053,12037571,10235267,19521987,19255064,19243021,19183483,18950845,18660489,18391015,18339625,18003614,17641689,17223341,17117180,17081983,16964243,16934225,16723356,16574658,16314496,16239257,15848166,15572376,15471764,15342556,15302935,15208681,15187081,15175163,15095040,14983011,14638676,14636573,12584197,12562779,12556447,12477932,12356758,12189208,12145330,20534441,12796488,15604093,17132730,17478428,19127118,19497978,20160030 5469 NM_004774,AC005288,AC009283,AF157513,CH471152,AF055994,AF283812,AK299789,AK314185,BC006517,BC060758,BC131783,BP357374,CR625084,L40366,Y13467 NP_004765,EAW60575,AAC39854,AAF98352,BAG61669,BAG36866,AAH06517,AAH60758,AAI31784,AAC41736,CAA73867,Q15648 Hs.643754 CRSP1|CRSP200|DRIP205|DRIP230|MGC71488|PBP|PPARBP|PPARGBP|RB18A|TRAP220|TRIP2 ARC205|PPAR binding protein|PPAR-binding protein|PPARG binding protein|TR-interacting protein 2|TRIP-2|activator-recruited cofactor 205 kDa component|mediator of RNA polymerase II transcription subunit 1|p53 regulatory protein RB18A|peroxisome proliferator-activated receptor-binding protein|thyroid hormone receptor-associated protein complex 220 kDa component|thyroid hormone receptor-associated protein complex component TRAP220|thyroid receptor interacting protein 2|thyroid receptor-interacting protein 2|vitamin D receptor-interacting protein 230 kD|vitamin D receptor-interacting protein complex component DRIP205 protein-coding 1604270 MED10 mediator complex subunit 10 16303743,15657623,15334068,15175163,12477932,14638676,14576168,12584197,16169070,10198638,11867769,12101254,15989967 84246 NM_032286,AC010635,AC093307,CH471102,AA648258,AK075493,AY277599,AY453397,AY598325,BC003353,BI597082,FJ515848 NP_115662,EAX08110,AAQ18038,AAS47514,AAT06736,AAH03353,Q9BTT4,ACS13739 Hs.13885 L6|MGC5309|NUT2|TRG20 TRG-17|TRG-20|mediator of RNA polymerase II transcription subunit 10|mediator of RNA polymerase II transcription subunit 10-like protein|mediator of RNA polymerase II transcription, subunit 10|transformation-related gene 17 protein|transformation-related gene 20 protein protein-coding 1606637 MED11 mediator complex subunit 11 MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM] 12584197,14638676,15175163,12477932,14576168,15989967 400569 NM_001001683,AC091153,CH471108,AF161414,BC070377,CR624732 NP_001001683,EAW90417,AAF28974,AAH70377,Q9P086 Hs.725355 HSPC296|MGC88387 mediator of RNA polymerase II transcription subunit 11|mediator of RNA polymerase II transcription, subunit 11 homolog protein-coding 1350145 MED12 mediator complex subunit 12 The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq] 1358728 10198638,10235266,11984006,12218053,12037571,18029348,10235267,19240132,19047373,18973276,18691967,17716226,17369503,17334363,17299734,17088561,17081983,16565090,16538184,16344560,16109376,15175163,15108174,14638676,12860370,12777533,12627458,12612078,12584197,12477932,12216017,12136106,11840515,11524702,11424983,10480376,9702738,9375929,9225980,8889548,8781769,8724849,8710870,11867769,12837248,12660246,14636573,15989967,17000779 1358728 9968 NM_005120,AB102551,AB102552,AB102553,AB102554,AB102555,AB102556,AB102557,AB102558,AB102559,AB102560,AB102561,AB102562,AB102563,AB102564,AB102565,AB102566,AB102567,AB102568,AB102569,AB102570,AB102581,AB102582,AB102583,AB102584,AB102585,AB102586,AB102587,AB102588,AB102589,AB102590,AB102591,AB102592,AB102593,AB102594,AB102595,AB102596,AB102597,AB102598,AB102599,AB102600,AB102611,AB102612,AB102613,AB102614,AB102615,AB102616,AB102617,AB102618,AB102619,AB102620,AB102621,AB102622,AB102623,AB102624,AB102625,AB102626,AB102627,AB102628,AB102629,AB102630,AF132033,AL590764,CH471132,AB102668,AF071309,AJ306428,AK302543,BM662470,D83783,DB069668,U23863,U80742,NG_012808 NP_005111,BAC81020,BAC81021,BAC81022,BAC81023,BAC81024,BAC81025,BAC81026,BAC81027,BAC81028,BAC81029,BAC81030,BAC81031,BAC81032,BAC81033,BAC81034,BAC81035,BAC81036,BAC81037,BAC81038,BAC81039,BAC81050,BAC81051,BAC81052,BAC81053,BAC81054,BAC81055,BAC81056,BAC81057,BAC81058,BAC81059,BAC81060,BAC81061,BAC81062,BAC81063,BAC81064,BAC81065,BAC81066,BAC81067,BAC81068,BAC81069,BAC81080,BAC81081,BAC81082,BAC81083,BAC81084,BAC81085,BAC81086,BAC81087,BAC81088,BAC81089,BAC81090,BAC81091,BAC81092,BAC81093,BAC81094,BAC81095,BAC81096,BAC81097,BAC81098,BAC81099,AAD44162,EAX05314,EAX05315,EAX05316,EAX05317,EAX05318,BAC81137,AAC83163,CAC84084,BAG63815,BAA12112,AAB91440,Q7Z2E0,Q7Z2F1,Q7Z2F4,Q7Z2K3,Q7Z3Z5,Q8WWP6,Q93074,AAI56137,AAI56979 Hs.409226 ARC240|CAGH45|FGS1|HOPA|KIAA0192|OKS|OPA1|TNRC11|TRAP230 CAG repeat protein 45|OPA-containing protein|OTTHUMP00000023490|OTTHUMP00000023493|activator-recruited cofactor 240 kDa component|human opposite paired|mediator of RNA polymerase II transcription subunit 12|mediator of RNA polymerase II transcription, subunit 12 homolog|mediator of rna polymerase ii transcription, subunit 12 homolog (yeast)|thyroid hormone receptor-associated protein complex 230 kDa component|thyroid hormone receptor-associated protein, 230 kDa subunit|trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)|trinucleotide repeat-containing gene 11 protein protein-coding 1352033 MED12L mediator complex subunit 12-like 14702039,12477932,11524702,10997877,20379614,19913121,20628086 116931 AF087980,AK124913,BX108326,AC024886,AC078816,AC108726,CH471052,AB046855,AF090917,AF388364,AF388365,AF399708,AK022714,AK128165,BC144559,NM_053002,NG_021244 NP_443728,EAW78800,EAW78801,EAW78802,BAB13461,AAF24035,AAL09579,AAL09580,AAO38813,BAB14198,BAG54642,AAI44560,Q86YW9,AAI72368 Hs.58561,Hs.727746 FLJ46288|KIAA1635|NOPAR|TNRC11L|TRALP|TRALPUSH OTTHUMP00000216773|mediator of RNA polymerase II transcription subunit 12-like protein|mediator of RNA polymerase II transcription, subunit 12 homolog-like|no opposite paired repeat protein|thyroid hormone receptor-associated-like protein|trinucleotide repeat-containing gene 11 protein-like protein-coding 1312495 MED13 mediator complex subunit 13 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq] 1580863 10198638,10235266,12218053,12037571,10235267,19240132,17081983,15896744,15342556,15302935,15175163,15146197,14702039,12477932,12150923,12050112,11834832,11454195,11042152,10024883,9628581,8710870,11867769,15208681,14638676,12421765,15989967,19730683,20379614 9969 NM_005121,AC008158,AC018628,AC060798,CH471179,CQ834416,AB011165,AF117754,AF151055,AK054894,BC044258,BC140891,BP332524,BQ709424,CN273870 NP_005112,EAW51437,EAW51438,EAW51439,CAH05423,BAA25519,AAD22032,AAF36141,AAI40892,Q9P0Q5,Q9UHV7 Hs.282678 ARC250|DRIP250|HSPC221|KIAA0593|THRAP1|TRAP240 activator-recruited cofactor 250 kDa component|mediator of RNA polymerase II transcription subunit 13|mediator of RNA polymerase II transcription, subunit 13 homolog|thyroid hormone receptor associated protein 1|thyroid hormone receptor-associated protein 1|thyroid hormone receptor-associated protein complex 240 kDa component|thyroid hormone receptor-associated protein complex component TRAP240|thyroid hormone receptor-associated protein, 240 kDa subunit|vitamin D3 receptor-interacting protein complex component DRIP250 protein-coding 1314183 MED13L mediator complex subunit 13-like The evolutionarily conserved THRAP genes encode a family of proteins that regulate embryonic development. THRAP2 is involved in early development of the heart and brain (Muncke et al., 2003 [PubMed 14638541]).[supplied by OMIM] 1580649 15175163,15145061,14702039,14638541,12477932,12168954,10470851,20379614 1580649 23389 NM_015335,AC009321,AC012157,AC026334,AC060226,AC130895,CH471054,AB028948,AF515599,AK023837,AK025280,AK127706,AL133033,AL137644,AY338463,BC038768,BC130422,CR749332,NG_023366 NP_056150,EAW98081,BAA82977,AAQ08182,BAB14697,BAB15103,CAB61363,CAB70855,AAR08418,AAI30423,CAH18186,Q71F56,Q9H6Z7 Hs.715095,Hs.603766 DKFZp781D0112|FLJ21627|KIAA1025|PROSIT240|THRAP2|TRAP240L mediator of RNA polymerase II transcription subunit 13-like|thyroid hormone receptor associated protein 2|thyroid hormone receptor-associated protein 2|thyroid hormone receptor-associated protein complex 240 kDa component-like protein-coding 4110708 MED13P1 mediator complex subunit 13 pseudogene 1 9847074 100499481 AC017032,NG_023546 pseudo 1343127 MED14 mediator complex subunit 14 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq] 1580863 10198638,10235266,17474147,12218053,12037571,17081983,16239257,16109376,15625066,15302935,15175163,14702039,14638676,14576168,12825353,12509459,12477932,12101254,10508170,10024883,9989412,9734358,9598311,9110174,8710870,8619474,12089346,11867769,11416138,12660246,14636573,17306756,10235267,15604093,15989967,17132730 9282 NM_004229,AB006652,AC092474,AC093029,CH471141,AB006651,AF070563,AF104256,AF135802,AF304448,AJ012077,AK023368,AK293070,AK308871,BC098377,BC132672,BC132674,BC144231,NG_016325 NP_004220,BAA28627,EAW59419,EAW59420,BAA28626,AAD12725,AAD24360,AAG22547,BAF85759,AAH98377,AAI32673,AAI32675,O60244 Hs.407604 CRSP150|CRSP2|CSRP|CXorf4|DRIP150|EXLM1|MGC104513|RGR1|TRAP170 ARC150|CRSP complex subunit 2|RGR1 homolog|activator-recruited cofactor 150 kDa component|cofactor required for Sp1 transcriptional activation subunit 2|cofactor required for Sp1 transcriptional activation, subunit 2 (150kD)|hRGR1|human homolog of yeast RGR1|mediator of RNA polymerase II transcription subunit 14|thyroid hormone receptor-associated protein complex 170 kDa component|thyroid hormone receptor-associated protein complex component TRAP170|transcriptional co-activator CRSP150|transcriptional coactivator CRSP150|vitamin D receptor-interacting protein complex component DRIP150|vitamin D3 receptor-interacting protein complex 150 kDa component protein-coding 1316826 MED15 mediator complex subunit 15 The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1358555 18029348,16904669,16713569,16189514,15489334,15461802,15455391,15318033,15175163,14983011,14702039,14691453,12497610,12477932,12167862,11414760,11024300,10235267,9225980,16169070,16799563,15989967,20025940 1358555 51586 NM_001003891,NM_015889,AC004033,AC005500,AC007050,AC007731,CH471176,AF056191,AF328769,AK000003,AK074230,AK074268,AK090465,AK124276,AK124925,AK126208,AK294540,AK297284,AK297789,AK315540,AL832923,AW245653,BC003078,BC005027,BC007529,BC013985,BC017110,BX478424,CB988805,CR456537,CR598695,CR611888,U80745,AL832151,AK294734 NP_001003891,NP_056973,EAX02948,EAX02949,EAX02950,EAX02951,EAX02952,EAX02953,EAX02954,EAX02955,EAX02956,AAC12944,AAK58423,BAA92228,BAB85034,BAC03446,BAG54024,BAG54113,BAG57747,BAG59755,BAG60130,CAH10623,AAH03078,AAH07529,AAH13985,CAG30423,AAB91443,Q69YK5,Q69YR4,Q6PKB8,Q96RN5,Q9NXY2,CAH10580,CAK54568,CAK54867,BAH11863 Hs.517421 ARC105|CAG7A|CTG7A|DKFZp686A2214|DKFZp762B1216|FLJ42282|FLJ42935|PCQAP|TIG-1|TIG1|TNRC7 CTG repeat protein 7a|OTTHUMP00000198546|PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein|PC2 glutamine/Q-rich-associated protein|PC2-glutamine-rich-associated protein|TPA inducible gene-1|TPA inducible protein|TPA-inducible gene 1 protein|activator-recruited cofactor 105 kDa component|activator-recruited cofactor, 105-kD|mediator of RNA polymerase II transcription subunit 15|positive cofactor 2 glutamine/Q-rich-associated protein|positive cofactor 2, glutamine/Q-rich-associated protein|trinucleotide repeat containing 7|trinucleotide repeat-containing gene 7 protein protein-coding 1343143 MED15P mediator complex subunit 15 pseudogene 326615 NG_002605,AL512624 MED15P|PCQAPP pseudo 1317518 MED16 mediator complex subunit 16 1580863 11867769,12101254,15989967,12218053,10198638,10235266,15489334,15175163,14638676,12477932,11337467,8710870,14636573 10025 EU392484,EU392485,EU392487,EU392488,EU392489,EU392490,EU392463,NM_005481,AC112706,CH471139,AF106934,AF121228,AL137732,AU098434,BC004554,BC007853,BC011841,BC017282,BI461485,BQ015734,CB050542,EU392448,EU392449,EU392450,EU392451,EU392452,EU392453,EU392454,EU392455,EU392456,EU392457,EU392458,EU392459,EU392460,EU392461,EU392462,EU392464,EU392465,EU392466,EU392467,EU392468,EU392469,EU392470,EU392471,EU392472,EU392473,EU392474,EU392475,EU392476,EU392477,EU392478,EU392479,EU392480,EU392481 ACB88895,NP_005472,EAW69586,EAW69587,AAD31087,AAD30032,AAH04554,AAH07853,AAH11841,AAH17282,ACB88881,ACB88882,ACB88883,ACB88884,ACB88885,ACB88886,ACB88887,ACB88888,ACB88889,ACB88890,ACB88891,ACB88892,ACB88893,ACB88894,ACB88897,ACB88898,ACB88899,ACB88900,ACB88901,ACB88902,ACB88903,ACB88904,ACB88896,ACB88905,ACB88906,ACB88907,ACB88908,ACB88909,ACB88910,ACB88911,ACB88912,ACB88913,ACB88914,Q9Y2X0,ABM84604,ABM86859 Hs.365207 DRIP92|THRAP5|TRAP95 mediator of RNA polymerase II transcription subunit 16|thyroid hormone receptor-associated protein 5|thyroid hormone receptor-associated protein complex 95 kDa component|thyroid hormone receptor-associated protein, 95-kD subunit|vitamin D3 receptor-interacting protein complex 92 kDa component protein-coding 1322408 MED17 mediator complex subunit 17 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq] 1580863 10198638,10235266,12584197,12218053,12037571,10235267,9989412,16344560,16109376,15489334,14702039,12509459,12477932,8710870,12101254,11867769,15175163,14638676,14576168,12154023,15208681,11504724,14636573,15989967,17132730,17643375,20950787 9440 AF104254,AF105421,AF117657,AK001674,AK022156,AK023209,AK299702,BC021101,CR604067,DA506467,DA921529,NM_004268,AP001894,CH471065,NG_028028 EAW66920,EAW66921,AAD12723,AAD30856,AAD22031,BAA91827,BAB13973,BAG51169,BAG61603,AAH21101,Q9NVC6,NP_004259 Hs.444931 CRSP6|CRSP77|DRIP80|FLJ10812|TRAP80 ARC77|CRSP complex subunit 6|activator-recruited cofactor 77 kDa component|cofactor required for Sp1 transcriptional activation subunit 6|cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)|cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa|mediator of RNA polymerase II transcription subunit 17|thyroid hormone receptor-associated protein complex 80 kDa component|thyroid hormone receptor-associated protein, 80-KD subunit|transcriptional coactivator CRSP77|vitamin D receptor interacting protein 80-kD|vitamin D3 receptor-interacting protein complex 80 kDa component protein-coding 1347067 MED18 mediator complex subunit 18 MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM] 737633,1580863 12584197,14638676,16344560,15175163,14576168,12477932,15989967 737633 54797 NM_017638,NM_001127350,AL353622,CH471059,AB107222,AK000052,AK296130,BC002694,BG752399,DA090416 NP_060108,NP_001120822,CAI19132,EAX07699,EAX07700,EAX07701,EAX07702,BAD06869,BAA90910,BAG58875,AAH02694,Q9BUE0 Hs.479911 FLJ20045|p28b TRAP/mediator complex subunit p28b|mediator of RNA polymerase II transcription subunit 18|mediator of RNA polymerase II transcription, subunit 18 homolog|mediator of rna polymerase ii transcription, subunit 18 homolog (yeast) protein-coding 1344644 MED19 mediator complex subunit 19 MED19 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM] 737633 19049968,15175163,14638676,12584197,12477932,9417904,16169070,14576168,15989967 737633 219541 NM_153450,AP000662,CH471076,AY148462,BC009723,BC037223,U92995 NP_703151,EAW73774,EAW73775,EAW73776,AAN16075,AAH09723,AAH37223,A0JLT2 Hs.43619 DT2P1G7|LCMR1 lung cancer metastasis-related protein 1|mediator of RNA polymerase II transcription subunit 19|mediator of RNA polymerase II transcription, subunit 19 homolog protein-coding 1606323 MED20 mediator complex subunit 20 15989967,9933582,14576168,15489334,15175163,14702039,14574404,12838346,12584197,12477932,11867769,14636573,20139978 9477 NM_004275,AL160163,CH471081,AF097725,AF116602,AJ420544,AK023092,AK097385,AK293412,AK300573,AK307070,AL050196,BC012618,BC015189,BC019866,BC032552,BC033498,BC040950,BC063509,BU597139,CR603210 NP_004266,CAI23487,CAO72118,EAX04067,EAX04068,AAD16169,AAF71027,BAB14399,BAG53461,BAG56919,BAG62275,CAB43314,AAH12618,AAH19866,AAH32552,AAH40950,Q9H944,Q9P1M4,ABZ92460 Hs.278434 DKFZp586D2223|MGC29869|PRO0213|TRFP OTTHUMP00000196106|OTTHUMP00000205788|OTTHUMP00000205789|TRF-proximal protein homolog|Trf (TATA binding protein-related factor)-proximal homolog|hTRFP|mediator of RNA polymerase II transcription subunit 20 protein-coding 1320392 MED21 mediator complex subunit 21 1580863 20520624,8598913,12037571,15635413,15489334,15249124,15175163,12477932,11591653,11278802,10024883,9872325,9734358,9710619,9305922,9159119,9121429,8609996,2320128,12101254,11867769,10198638,9315662,12584197,14636573,15989967 9412 NM_004264,AC092747,CH471094,AK309064,AK311838,BC008380,CR456999,CR593127,CR621668,U46837,U52960 NP_004255,EAW96544,EAW96545,EAW96546,EAW96547,BAG34780,AAH08380,CAG33280,AAA98511,AAB06944,Q13503,ABZ92459 Hs.286145 SRB7|SURB7 RNA polymerase II complex component SRB7|RNA polymerase II holoenzyme component SRB7|RNAPII complex component SRB7|SRB7 suppressor of RNA polymerase B homolog|hSrb7|mediator of RNA polymerase II transcription subunit 21 protein-coding 1606332 MED22 mediator complex subunit 22 This gene is located in the surfeit gene cluster, a group of very tightly linked housekeeping genes that do not share sequence similarity. The gene is oriented in a head-to-head fashion with RPL7A (SURF3) and the two genes share a bidirectional promoter. The encoded proteins are localized to the cytoplasm. Two alternative transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 17207965,12584197,8586415,14638676,15489334,15175163,14759258,12477932,11891058,9740673,9196076,8499913,8482538,16169070,19913121,20628086,15989967 6837 AL772161,AJ224358,AJ224359,AJ224360,AK124518,AK126069,BC024225,BC040111,BI756582,X85178,NM_133640,NM_181491,NG_000837,AC002107,AJ224639,AL158826,CH471090,Y17213 ADQ33033,CAA11915,CAA11916,CAA11917,BAG54045,BAG54286,AAH24225,AAH40111,CAA59462,O75753,Q15528,Q5T8T6,Q5T8T7,Q5T8T8,NP_598395,NP_852468,CAA12052,CAA12053,CAI12827,CAI12829,CAI12830,CAI12831,EAW88056,EAW88057,EAW88058,EAW88059,EAW88060,CAA76691 Hs.78354 MED24|MGC48682|SURF5 OTTHUMP00000022481|OTTHUMP00000022482|OTTHUMP00000215370|OTTHUMP00000215371|OTTHUMP00000215372|mediator of RNA polymerase II transcription subunit 22|surf-5|surfeit 5|surfeit locus protein 5 protein-coding 1316995 MED23 mediator complex subunit 23 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 15989967,14759369,14638676,14574404,12543799,12477932,12421765,12242338,11934987,17438371,9989412,18660489,16964286,16381901,15489336,11076863,10823961,10574462,10353252,10235267,10235266,11867769,11416138,12089346,15208681,15893730,15175163,11230166,19913121,20628086 9439 BC060759,NM_004830,AL121575,CH471051,AB033042,AF104255,AF105332,AF135022,AJ420587,AK304711,AK315030,AL136776,NM_015979,EU392520,EU392521,EU392522,EU392523,EU392526,EU392527,EU392528,EU392529,EU392530,EU392531,EU392532,BC007088 AAH07088,NP_057063,NP_004821,CAB92072,CAB92073,CAI23319,CAI23320,CAI23321,EAW48049,EAW48050,EAW48051,EAW48052,BAA86530,AAD12724,AAD31729,AAD30202,BAG65476,CAB66710,ACB88848,ACB88849,ACB88850,ACB88851,ACB88854,ACB88855,ACB88856,ACB88857,ACB88858,ACB88859,ACB88860,Q05DL5,Q5JWT2,Q9ULK4,CAL38449,ACE87565,ACE86877,AAH60759 Hs.29679 ARC130|CRSP130|CRSP133|CRSP3|DKFZp434H0117|DRIP130|SUR-2|SUR2 130 kDa transcriptional co-activator|133 kDa transcriptional co-activator|OTTHUMP00000017207|activator-recruited cofactor 130 kDa component|cofactor required for Sp1 transcriptional activation subunit 3|mediator of RNA polymerase II transcription subunit 23|vitamin D3 receptor interacting protein protein-coding 1348876 MED24 mediator complex subunit 24 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10198638,10235266,12218053,9653119,10235267,17081983,16344560,15896744,15489334,15302935,15175163,14702039,12477932,12189208,11834832,11454195,10406464,10377381,10024883,9637681,8710870,8590280,12837248,15208681,14638676,11867769,12101254,15989967,16109376,17643375 9862 NM_001079518,NM_014815,AC090844,AC102799,CH471152,AF055995,AF277379,AK022508,AK291040,AK293309,AK299864,AK300992,AK303502,AK303745,BC011375,CR616444,D50920,DB144359,EU392533,EU392534,EU392535,EU392536,EU392537,EU392538,EU392547,EU392539,EU392540,EU392541,EU392542,EU392543,EU392544,EU392545,EU392546,EU392548,EU392549,EU392550,EU392552 NP_001072986,NP_055630,EAW60629,EAW60630,EAW60631,AAC39855,AAF78764,BAG51081,BAF83729,BAG56829,BAG61718,BAG62611,BAG64535,BAG64717,AAH11375,BAA09479,ACB88915,ACB88916,ACB88917,ACB88918,ACB88919,ACB88929,O75448,ABM82008,ABM85190,ACB88920,ACB88921,ACB88922,ACB88923,ACB88924,ACB88925,ACB88926,ACB88927,ACB88928 Hs.462983 ARC100|CRSP100|CRSP4|DRIP100|KIAA0130|MGC8748|THRAP4|TRAP100|hTRAP100 CRSP complex subunit 4|OTTHUMP00000164460|activator-recruited cofactor 100 kDa component|cofactor required for Sp1 transcriptional activation subunit 4|cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa|mediator of RNA polymerase II transcription subunit 24|mediator of RNA polymerase II transcription, subunit 24 homolog|thyroid hormone receptor associated protein 4|thyroid hormone receptor-associated protein 4|thyroid hormone receptor-associated protein complex 100 kDa component|vitamin D3 receptor-interacting protein complex 100 kDa component|vitamin D3 receptor-interacting protein complex component DRIP100 protein-coding 1347126 MED25 mediator complex subunit 25 11230166,10235267,9110174,15989967,17641689,15175163,14983011,14702039,14657022,14638676,12477932,12163014,11112660,19290556,20089804 81857 NM_030973,AC006942,AC018766,CH471177,AF261072,AF283769,AF447873,AJ617479,AK055844,AK289460,AK298897,AK307330,AL136746,AY533507,BC021543,BC024312,BC065297,BG770032,BI520216,EU392499,EU392500,EU392501,EU392502,EU392503,EU392504,EU392505,EU392506,EU392507,EU392508,EU392509,EU392510,EU392511,EU392512,EU392513,EU392514,EU392515,EU392516,EU392517,EU392518,DC410997,EU392519,NG_017091 NP_112235,AAD15565,EAW52544,EAW52545,EAW52546,EAW52547,EAW52548,EAW52549,EAW52550,EAW52551,AAM20739,AAG15589,AAQ04648,CAE84581,BAG51583,BAF82149,BAG61008,CAB66680,AAS45401,AAH24312,AAH65297,ACB88861,ACB88862,ACB88863,ACB88864,ACB88865,ACB88866,ACB88867,ACB88868,ACB88869,ACB88870,ACB88871,ACB88872,ACB88873,ACB88874,ACB88875,ACB88876,ACB88877,ACB88878,ACB88879,ACB88880,Q71MG4,Q71SY5,ACE87677,ACE86988 Hs.656639 ACID1|ARC92|CMT2B2|DKFZp434K0512|MGC70671|P78|PTOV2|TCBAP0758 ARC/mediator transcriptional coactivator subunit|activator interaction domain-containing protein 1|activator-recruited cofactor 92 kDa component|mediator of RNA polymerase II transcription subunit 25|mediator of RNA polymerase II transcription, subunit 25 homolog|prostate-derived protein 78 kDa protein-coding 1352604 MED26 mediator complex subunit 26 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq] 1580863 15989967,9989412,19049968,17081983,15175163,14702039,14638676,12477932,12050112,10235267,14759369,10811649 9441 NM_004831,AC008764,AC024075,CH471106,AF104253,AK128435,AK313778,BC047040,BC063628,BC105951,BC105952,BC105953,BC110430,BC127214,BC127215,BC143047,CR601122,CR603051 NP_004822,EAW84554,AAD12722,BAG36516,AAI10431,AAI27216,O95402 Hs.356467 CRSP7|CRSP70 ARC70|CRSP complex subunit 7|activator-recruited cofactor 70 kDa component|cofactor required for Sp1 transcriptional activation subunit 7|cofactor required for Sp1 transcriptional activation, subunit 7 (70kD)|cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa|mediator of RNA polymerase II transcription subunit 26|transcriptional coactivator CRSP70 protein-coding 1349942 MED27 mediator complex subunit 27 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq] 15989967,12584197,9989412,10882111,18029348,15489334,15164053,14702039,12477932,8895530,1020353,15175163,14638676 9442 Z36848,NM_004269,AL160271,AL513102,AL603649,AL691506,AL713892,CH471090,AF104252,AF230382,AK022289,AK298436,AK316345,BC002878,BC064608,BC070331,CR616414,CR617918,CR620980,DQ099387 Q6P2C8,ABZ92276,NP_004260,CAI13386,CAH72546,CAH72529,CAI17283,EAW87989,EAW87990,EAW87991,EAW87992,EAW87993,AAD12721,AAF37290,BAG60657,BAH14716,AAH02878,AAH64608,AAZ13763 Hs.374262 CRAP34|CRSP34|CRSP8|MGC11274|TRAP37 CRSP complex subunit 8|OTTHUMP00000022427|cofactor required for Sp1 transcriptional activation subunit 8|cofactor required for Sp1 transcriptional activation, subunit 8 (34kD)|cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa|mediator of RNA polymerase II transcription subunit 27|p37 TRAP/SMCC/PC2 subunit|transcriptional coactivator CRSP34 protein-coding 1354293 MED28 mediator complex subunit 28 15467741,16899217,17848560,17568184,16964398,16189514,16024617,15489334,15175163,14638676,12584197,12477932,11779215,11591653,15989967 80306 NM_025205,AC006160,CH471069,AF317678,AF317679,AF317680,AF318059,AF358829,AK313928,AL117645,BC011936,CR605440,CR607989,CR618837,CR619532 NP_079481,EAW92781,EAW92782,AAK11563,AAL26906,AAK32724,AAH11936,Q9H204,ABM84317,ABM87712 Hs.434075,Hs.644788 1500003D12Rik|DKFZp434N185|EG1|magicin OTTHUMP00000217939|endothelial-derived gene 1|endothelial-derived protein 1|mediator of RNA polymerase II transcription subunit 28|mediator of RNA polymerase II transcription, subunit 28 homolog|mediator of rna polymerase ii transcription, subunit 28 homolog (yeast)|merlin and Grb2-interacting cytoskeletal protein|tumor angiogenesis marker EG-1 protein-coding 1351639 MED29 mediator complex subunit 29 14576168,17332321,15555573,15175163,14702039,14638676,12477932,15989967,17643375 55588 NM_017592,AC005239,AC011500,AC104106,CH471126,AK000411,AK026527,AK090877,AK092909,AK124629,AK294667,AK297772,AK298014,AK300563,AK316010,AL137304,AY729650,BC019015 NP_060062,EAW56884,BAA91147,BAG57835,BAG60118,BAG60318,BAG62269,BAH14381,CAB70687,AAU43732,AAH19015,Q9NX70 Hs.611541 DKFZp434H247|IXL intersex-like protein|mediator of RNA polymerase II transcription subunit 29 protein-coding 1319681 MED30 mediator complex subunit 30 The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. THRAP6 is a component of this complex that appears to be metazoan specific Baek et al. (2002) [PubMed 11909976].[supplied by OMIM] 1580863 10198638,10235266,12218053,10235267,15489334,15175163,14638676,12584197,12477932,12136098,11909976,11591653,20493979,11867769,15989967 90390 FM179284,NM_080651,AC024329,AC087361,AJ325138,CH471060,AW160991,AY083305,BC008226,CR602778 ABM85634,CAQ76893,NP_542382,EAW91970,EAW91971,AAL89787,AAH08226,Q96HR3,ABM82444 Hs.492612 MED30S|MGC9890|THRAP6|TRAP25 TRAP/Mediator complex component TRAP25|mediator of RNA polymerase II transcription subunit 30|putative mediator of RNA polymerase II transcription subunit 30|thyroid hormone receptor associated protein 6|thyroid hormone receptor-associated protein 6|thyroid hormone receptor-associated protein complex 25 kDa component protein-coding 1343042 MED31 mediator complex subunit 31 737633,1580863 15383276,16169070,15489334,15175163,14702039,14638676,14576168,12584197,12477932,12149480,11591653,10810093,10024883,10198638,15989967 737633 51003 NM_016060,AC004706,CH471108,AF151883,AK094033,AK130946,AK311875,BC012539 NP_057144,EAW90301,AAD34120,BAG34816,AAH12539,Q9Y3C7 Hs.567493 3110004H13Rik|CGI-125|FLJ27436|FLJ36714|Soh1 hSOH1|mediator complex subunit SOH1|mediator of RNA polymerase II transcription subunit 31|mediator of RNA polymerase II transcription, subunit 31 homolog|mediator of rna polymerase ii transcription, subunit 31 homolog (yeast) protein-coding 1354139 MED4 mediator complex subunit 4 10882111,10235266,17438371,12218053,10198638,18029348,10235267,16189514,15680972,15489334,15231748,15175163,15057823,14702039,14638676,12584197,12477932,11042152,9373149,8125298,11867769,15989967,17643375,19411183 29079 AL158196,CH471075,AF161475,AF230381,AF300618,AK001934,AK222713,AK223017,AK301835,BC005189,CR457276,NM_014166,CR541830,CR590107,CR598896,CR601903,CR617886 NP_054885,CAI17018,CAI17019,CAI17020,EAX08783,EAX08784,EAX08785,EAX08786,AAF29090,AAF37289,AAG22542,BAA91987,BAD96433,BAD96737,BAG63279,AAH05189,CAG33557,CAG46629,Q5T911,Q9NPJ6,ABM84002,ABM87332 Hs.181112 ARC36|DRIP36|FLJ10956|HSPC126|RP11-90M2.2|TRAP36|VDRIP ARC36|OTTHUMP00000018391|OTTHUMP00000018392|TRAP/SMCC/PC2 subunit p36 subunit|activator-recruited cofactor 36 kDa component|mediator of RNA polymerase II transcription subunit 4|mediator of RNA polymerase II transcription, subunit 4 homolog|mediator of rna polymerase ii transcription, subunit 4 homolog (yeast)|p36 TRAP/SMCC/PC2 subunit|vitamin D receptor interacting protein|vitamin D3 receptor-interacting protein complex 36 kDa component protein-coding 1321116 MED6 mediator complex subunit 6 1580863 10024883,12037571,14638676,15808511,15489334,15175163,14983011,14576168,12584197,12477932,12167862,10508479,10235267,10235266,10198638,9734358,9671713,9373149,9234719,8125298,11416138,11867769,15989967 10001 CR608591,U78082,NM_005466,AL357153,CH471061,AF074723,AF155104,AK222587,AK223346,AK290647,BC004106,BM152825,BT006831,CR541697,AK300417,AK300460,AK304361 AAB84363,O75586,NP_005457,EAW81038,EAW81039,EAW81040,EAW81041,EAW81042,AAC26869,AAD42870,BAD96307,BAD97066,BAF83336,AAH04106,AAP35477,CAG46498,BAG62146,BAG62179,BAG65202 Hs.497353 NY-REN-28 ARC33|activator-recruited cofactor 33 kDa component|hMed6|mediator of RNA polymerase II transcription subunit 6|mediator of RNA polymerase II transcription, subunit 6 homolog|mediator of rna polymerase ii transcription, subunit 6 homolog (yeast)|renal carcinoma antigen NY-REN-28 protein-coding 1321085 MED7 mediator complex subunit 7 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 17353931,9989412,16189514,15489334,15175163,14638676,12584197,12477932,10377381,10235267,9671713,9420330,12101254,11867769,15989967 9443 NM_004270,NM_001100816,AC010609,CH471062,AF031383,AF104251,AK308393,AV711090,BC005250,BC006968,BQ011916,BQ130907,BT007368,CR457009,CR541696,CR617029 NP_004261,NP_001094286,EAW61610,EAW61611,AAC52115,AAD12720,AAP36032,CAG33290,CAG46497,O43513,Q6IAZ5 Hs.279902 CRSP33|CRSP9|MGC12284 ARC34|CRSP complex subunit 9|RNA polymerase transcriptional regulation mediator subunit 7 homolog|activator-recruited cofactor 34 kDa component|cofactor required for Sp1 transcriptional activation subunit 9|cofactor required for Sp1 transcriptional activation, subunit 9 (33kD)|cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa|hMED7|mediator of RNA polymerase II transcription subunit 7|transcriptional coactivator CRSP33 protein-coding 1313646 MED8 mediator complex subunit 8 This gene encodes a protein that is one of more than 20 subunits of the mediator complex, first identified in S. cerevisiae, that is required for activation of transcription. The product of this gene also interacts with elongins B and C, and CUL2 and RBX1, to reconstitute a ubiquitin ligase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq] 1580863 16712791,14638676,16973571,15489334,15175163,14576168,12584197,12477932,12149480,11752456,10235267,9671713,16169070,15989967 112950 NM_052877,NM_201542,AL139289,CH471059,AF521562,AV684532,BC010019,BC010543,BG620658,CB161514,CR622379 NP_443109,NP_963836,CAI23382,CAP58853,CAP58854,EAX07099,AAM76709,AAH10019,AAH10543,Q96G25,ABM82714,ABM87828 Hs.301756 ARC32|MGC17544|MGC19641 OTTHUMP00000008573|activator-recruited cofactor 32 kDa component|mediator of RNA polymerase II transcription subunit 8|mediator of RNA polymerase II transcription subunit MED8|mediator of RNA polymerase II transcription, subunit 8 homolog protein-coding 1349775 MED9 mediator complex subunit 9 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 737633,1580863 14638676,15175163,14702039,12477932,11997338 737633 55090 CH471196,AK001055,BC000647,BC010906,BC104988,BC112029,CR596182,CR599337,CR623685,AC073621,NM_018019 EAW55706,EAW55707,BAA91483,AAI04989,AAI12030,Q9NWA0,NP_060489 Hs.244595 FLJ10193|MED25|MGC138234 mediator of RNA polymerase II transcription subunit 9|mediator of RNA polymerase II transcription, subunit 9 homolog|mediator of rna polymerase ii transcription, subunit 9 homolog (yeast)|mediator subunit 25 protein-coding 1322126 MEF2A myocyte enhancer factor 2A The process of differentiation from mesodermal precursor cells to myoblasts has led to the discovery of a variety of tissue-specific factors that regulate muscle gene expression. The myogenic basic helix-loop-helix proteins, including myoD (MIM 159970), myogenin (MIM 159980), MYF5 (MIM 159990), and MRF4 (MIM 159991) are one class of identified factors. A second family of DNA binding regulatory proteins is the myocyte-specific enhancer factor-2 (MEF2) family. Each of these proteins binds to the MEF2 target DNA sequence present in the regulatory regions of many, if not all, muscle-specific genes. The MEF2 genes are members of the MADS gene family (named for the yeast mating type-specific transcription factor MCM1, the plant homeotic genes 'agamous' and 'deficiens' and the human serum response factor SRF (MIM 600589)), a family that also includes several homeotic genes and other transcription factors, all of which share a conserved DNA-binding domain.[supplied by OMIM] 1580863,1580548,1580549,1580546 8575763,1516833,19453261,19161138,19153100,19093215,19058854,18249389,18222924,18160598,18086930,18073218,17611778,17579569,17112666,16980305,16951497,16872533,16767660,16563226,16504037,16484498,16469744,16381901,16344560,16314281,16195615,16043483,15958500,15861005,15841183,15841171,15834131,15811259,15798210,15496429,15489336,15489334,15466416,15084602,15057983,15043778,14960415,14645853,14630949,12691662,12626519,12586839,12477932,12371907,12061776,11904443,11792813,11316766,11230166,11160896,11076863,10852968,10849446,10825153,10748098,10737771,10531066,10487761,10458488,10330143,9858528,9753748,9418854,8889549,8798771,8697817,8662987,8548800,1748287,1329097,15140898,12861002,15173318,19364819,19782985,19935709,20031581,20086047,20132824,20363751,20379614,20546016,19913121,20590529,20628086,20682687,15276183,15923648,16956611,19389706 1580548,1580549,1580546 4205 U49020,AB208985,AK291835,AK294207,AL831995,BC013437,BC053871,DA778137,N93079,X63381,X68503,X68505,Y16312,NG_016443,NM_001171894,NM_005587,NM_001130926,NM_001130927,NM_001130928,AC022692,AC103967,CH471101 EAX02251,EAX02252,AAB17195,AAB17196,BAD92222,BAF84524,BAG57518,AAH13437,AAH53871,CAA44979,CAA48516,CAA48517,CAA76175,Q02078,Q59GX4,Q7Z6C9,CAL37617,CAL38731,ABZ92017,NP_001165365,NP_005578,NP_001124398,NP_001124399,NP_001124400,EAX02249,EAX02250 Hs.268675 ADCAD1|RSRFC4|RSRFC9 MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)|myocyte-specific enhancer factor 2A|serum response factor-like protein 1 protein-coding 1342976 MEF2AP myocyte enhancer factor 2A pseudogene 8697817 4206 NG_003072,AL451075,U44888 MEF2AP pseudo 1351770 MEF2B myocyte enhancer factor 2B The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (geneID:729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as geneID:4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on geneID:4207. [provided by RefSeq] 1580863 8575763,1516833,19093215,17974005,16504037,16344560,16189514,15567413,15489334,15084602,15057824,14702039,12700764,11517243,11230166,11181995,10531067,10458488,9430690,1748287,19913121,20628086,12861002 100271849 NM_001145785,AC002126,CH471106,AI499707,AK057210,CR593081,CR598286,CR609526,CR621883,DA488022 NP_001139257,AAB86982,EAW84788,EAW84789,EAW84790,EAW84791,EAW84792,EAW84793,BAG51885,Q02080 Hs.153629 FLJ32648|RSRFR2 MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)|OTTHUMP00000206144|OTTHUMP00000206145|OTTHUMP00000206146|mads box transcription enhancer factor 2, polypeptide b (myocyte enhancer factor 2b)|myocyte-specific enhancer factor 2B|serum response factor-like protein 2 protein-coding 1349172 MEF2C myocyte enhancer factor 2C 1580863,1580546 20936779,8948587,15342556,8455629,8575763,18079734,19453261,19093215,19065516,19011954,18950845,18660489,18067759,17903302,17611778,16504037,16478538,16469744,15834131,15831463,15743823,15561718,15340086,15140898,15084602,12477932,12376544,12135755,12130539,12061776,11809751,11792813,11744164,11554755,11535832,11504882,11160896,10805738,10790371,10737771,10523670,10330143,10082551,9858528,9798649,9753748,9748305,9384584,9069290,9001254,8900141,8663403,8575784,7679508,8548800,9418854,11486037,12659851,12861002,16043483,18029348,19592390,19720801,19751190,19801982,19828686,20513142,20610535,20709755,20881960,20333642,19913121,20628086,15276183,15923648,19553684,20211142,21060863 1580546 4208 NM_001131005,NM_002397,AC008525,AC008835,CH471084,AK307883,AK312472,AL833268,AL833274,BC026341,CR591274,CR593265,CR614810,DC318557,L08895,S57212,BP231922,DC377336,DC377710,FM180475,NG_023427,NM_001193347,NM_001193348,NM_001193349,NM_001193350,FM163484 NP_001124477,NP_002388,EAW95961,EAW95962,EAW95963,EAW95964,EAW95965,EAW95966,EAW95967,EAW95968,BAG35378,AAA59578,AAB25838,Q06413,AAI52785,AAI56604,ABZ92163,ACE87843,ACT64353,ACT64355,ACT64526,ACT64527,CAQ86609,NP_001180276,NP_001180277,NP_001180278,NP_001180279,CAQ57795 Hs.649965 C5DELq14.3; DEL5q14.3 MADS box transcription enhancer factor 2, polypeptide C|MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C)|OTTHUMP00000222410|OTTHUMP00000222412|OTTHUMP00000222416|OTTHUMP00000222540|OTTHUMP00000222542|OTTHUMP00000222543|OTTHUMP00000222656|mads box transcription enhancer factor 2, polypeptide c (myocyte enhancer factor 2c)|myocyte-specific enhancer factor 2C protein-coding 733415 MEF2D myocyte enhancer factor 2D 1580863 8575763,8269842,18029348,19453261,19119233,19093215,18660489,17158926,17081983,16964243,16356933,16166628,15902271,15834131,15744350,15743823,15489334,15302935,14702039,12896970,12477932,12213324,11904443,11433030,9858528,16043483,19851296,20198315,20363751,11096067,10944115,10849446,10737771,10523670,8798771,10933397,10531067,10825153,9753748,19913121,20590529,20628086,20682687,18541383,19188441,20936779 4209 AL139412,AL365181,CH471121,L16795,NM_005920,AB210005,AF086193,AK027180,AK056972,AK308641,AK310187,BC018985,BC032479,BC040949,BC054520,BX640792,BX647226,L16794,HI574186 NP_005911,CAI17184,CAI17185,CAI17186,EAW52948,EAW52949,EAW52950,EAW52951,EAW52952,AAA59579,BAE06087,AAH32479,AAH40949,AAH54520,AAA93194,Q05BX2,Q14814,Q4LE66,Q5IRN4,Q5T9U4,CBX47582 Hs.314327 DKFZp686I1536 MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D)|MEF2D/DAZAP1 fusion|OTTHUMP00000031852|OTTHUMP00000031853|myocyte enhancer factor 2D/deleted in azoospermia associated protein 1 fusion protein|myocyte-specific enhancer factor 2D protein-coding 737570 MEFV Mediterranean fever This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq] 1580863 11468188,11115844,19641922,19531756,19494323,19489440,19479871,19397405,19373257,19346738,19309279,19262573,19253030,19210876,19132902,19119044,19115056,19033264,19026701,19026119,19014044,18984609,18843775,18832548,18825879,18795391,18725973,18691160,18662100,18648395,18609258,18597091,18577712,18576390,18512793,18496034,18403822,18389382,18353061,18340637,18330885,18328141,18318646,18307385,18300119,18266121,18219832,18177471,18177465,18097735,18061974,18035151,18006045,18000697,17964261,17938136,17889261,17711558,17710881,17697637,17696266,17665427,17594097,17566872,17520284,17489852,17469185,17454935,17276496,17195238,17102945,17090974,17067447,17067442,16907704,16785446,16730661,16721494,16707534,16627024,16614989,16523438,16523434,16498413,16439335,16387839,16378925,16255051,16245224,16234278,16225401,16118480,16037825,15958759,15942916,15903027,15805719,15724392,15717684,15674370,15667491,15643295,15458961,15146467,15122067,15071491,15024744,15018633,14985395,14727457,14727057,14679589,14636645,14615741,14595024,14578967,12966608,12955725,12929299,12905488,12762136,12700594,12687559,12646168,12615073,12477932,12461684,12401847,12384939,12180071,12124996,12105243,12077709,12054656,11781702,11588211,11498534,11484206,11470495,19479870,19473580,19934105,11464248,11464238,11175300,11139244,10854105,10842288,10807793,10787449,10782044,10737995,10666224,10612841,10364520,10234504,10090880,10024914,9735379,9668175,9653642,9572633,9288758,9288094,9177779,9152834,19423540,19449169,19465590,19579027,19675583,19688293,19714479,19729025,19755381,19762364,19777236,19784369,19820229,19820675,19845843,19863562,19929404,19934083,19998717,20008920,20031469,20041150,20113338,20151816,20165923,20177433,20194447,20217092,20224922,20306331,20373849,20391345,20406964,20437121,20438785,20483145,20485448,20506103,20518828,20533539,20534143,20549290,19913121,20602240,20628086,20645115,20669279,20677014,20828792 4210 NM_000243,NG_007871,AF111163,AF301150,AF301151,AJ003147,CH471112,AF018080,AK298660,BC101511,BC101537,Y14441,FJ785718,FJ785719,FJ785720,FJ785721,NM_001198536,FJ785717,FJ785722 NP_000234,AAD26152,AAK97223,AAK97224,CAA05906,EAW85382,EAW85383,AAB70557,BAG60828,AAI01512,AAI01538,CAA74793,O15553,ACV82586,ACV82587,ACV82588,ACV82589,NP_001185465,ACV82585,ACV82590 Hs.632221 FMF|MEF|MGC126560|MGC126586|TRIM20 marenostrin|pyrin protein-coding 1351308 MEG3 maternally expressed 3 (non-protein coding) MEG3 is a maternally expressed imprinted gene which appears to function as an RNA molecule; multiple splice variants are observed in the available sequence data and a pituitary transcript variant has been associated with inhibited cell proliferation. Studies in mouse and sheep suggest that an upstream intergenic differentially methylated region regulates imprinting imprinting of the region. The expression profile in mouse of the co-regulated Meg3/Gtl2 and Dlk1 genes suggests a causative role in the pathologies found in uniparental disomy animals, characterized by defects in skeletal muscle maturation, bone formation, placenta size and organization and prenatal lethality. The sheep homolog is associated with the callipyge mutation which in heterozygous individuals affects a muscle-specific long-range control element located in the DLK1-GTL2 intergenic region and results in the callipyge muscular hypertrophy. The non-Mendelian inheritance pattern, known as polar overdominance, likely results from the combination of the cis-effect on the expression levels of genes in the DLK1-GTL2 imprinted domain, and trans interaction between the products of reciprocally imprinted genes. [provided by RefSeq] 18628527,18454453,17569660,16793321,16344560,14702039,14602737,12477932,10759892,9110174,8619474,11337479,11731499,15644399,17213841,18176563,18282507,18478039,19595458,19656776,19786834,19966805,20032057,20179190,20585555,20395239 55384 NR_003530,NR_003531,NR_002766,AL117190,AB032607,AF052114,AF119863,AJ413186,AJ413187,AK055725,AK057522,AK092504,AK092707,AK098378,AK123878,AK124580,AK127864,AV704361,AY314975,BC023543,BC036602,BC036882,BC051294,BC062783,BC092509,BX161432,BX161452,BX247998,BX248012,CR591136,CR591736,CR592849,CR596535,CR597219,CR598389,CR602474,CR603291,CR603748,CR603886,CR606010,CR607907,CR608449,CR608797,CR609760,CR609941,CR610066,CR610233,CR611497,CR612008,CR612108,CR613369,CR614788,CR615598,CR615599,CR617022,CR618544,CR620087,CR620241,CR620703,CR621793,CR623957,CR624712,CR626265,DB179384,BQ270557,DB449068,NG_016853,NR_033358,NR_033359,NR_033360 Hs.525589,Hs.654863 FLJ31163|FLJ42589|FLJ44703|FP504|GTL2|NCRNA00023|PRO0518|PRO2160|prebp1 miscrna 1350137 MEG8 maternally expressed 8 (non-protein coding) 12107410,11337479,11481034,12045206 79104 NR_024149,AL117190,CA396130 Hs.655789 Bsr|Irm|NCRNA00024|Rian miscrna 1601732 MEGF10 multiple EGF-like-domains 10 17205124,19721717,20379614,20828568,19197986,18179784,17643423,17498693,16344560,14702039,12477932,12421765,11347906 84466 DA240513,NM_032446,AC008402,AC008682,AC010424,CH471062,AB058676,AK021631,AK123568,AK307919,BC020198,BC152478,CR749437 NP_115822,EAW62406,EAW62407,BAB47409,AAH20198,AAI52479,CAH18275,Q96KG7 Hs.438709 DKFZp781K1852|FLJ41574|KIAA1780 OTTHUMP00000223094|multiple EGF-like domains protein 10|multiple epidermal growth factor-like domains protein 10 protein-coding 1603600 MEGF11 multiple EGF-like-domains 11 19851296,20198315,17498693,16713569,14702039,12975309,12477932,11347906 84465 AL834326,AY358226,BC029999,BC117419,BC126313,NM_032445,AC011847,AC084854,AC087382,CH471082,AB058677,AB300051,AK090663,AC209298 EAW77754,CAD38994,AAQ88593,AAI17420,AAI26314,A6BM72,NP_115821,EAW77755,EAW77756,EAW77757,BAB47410,BAF64841 Hs.712886 DKFZp434L121|KIAA1781 OTTHUMP00000164230|OTTHUMP00000203023|multiple EGF-like domains protein 11|multiple epidermal growth factor-like domains protein 11 protein-coding 736662 MEGF6 multiple EGF-like-domains 6 68762,1580863 16710414,12168954,9693030,8889548,12122015,16713569,20029029 68762 1953 NM_001409,AL512413,AL513320,AB011539,AB231860,AF086226,AF086414,BM984873,BU501408,CR615300 NP_001400,CAH70834,CAI14334,BAA32467,BAE19678,O75095,AAI46387 Hs.593645 EGFL3|KIAA0815 EGF-like protein 3|EGF-like-domain, multiple 3|OTTHUMP00000215007|epidermal growth factor-like protein 3|megf6|multiple EGF-like domains protein 6|multiple epidermal growth factor-like domains protein 6 protein-coding 737434 MEGF8 multiple EGF-like-domains 8 68762,1580863 16713569,16335952,15489334,12546731,12477932,9693030,20530237,16712791 68762 1954 NM_001410,AC011497,AC024078,CH471126,AB011541,AF497566,AK026018,AY280362,BC033228,BC093649,BC111942,BC153880,BF941059,CB122799 NP_001401,EAW57132,EAW57133,BAA32469,AAO85531,AAP35084,AAH33228,AAI53881,Q05BT0,Q7Z7M0 Hs.132483 C19orf49|EGFL4|FLJ22365|MGC120684|MGC138147|SBP1 EGF-like domain-containing protein 4|EGF-like protein 4|EGF-like-domain, multiple 4|HBV pre-s2 binding protein 1|Putative uncharacterized protein C19orf49|egf-like-domain, multiple 4|epidermal growth factor-like protein 4|multiple EGF-like domain protein 4|multiple EGF-like domains protein 8|multiple epidermal growth factor-like domains 8|multiple epidermal growth factor-like domains protein 8 protein-coding 1342735 MEGF9 multiple EGF-like-domains 9 68762,1580863 9693030,15164053,12975309,12477932,8889548,20339536 68762 1955 NM_001080497,AL138836,AB011542,AJ420444,AK295380,AY358370,BC008313,BC016989,CH471090,CK300579 NP_001073966,CAC22313,BAA32470,BAH12051,AAQ88736,Q9H1U4,AAI56249,AAI57030,EAW87465 Hs.726061 EGFL5 EGF-like protein 5|EGF-like-domain, multiple 5|egf-like-domain, multiple 5|epidermal growth factor-like protein 5|multiple EGF-like domains protein 9|multiple epidermal growth factor-like domains protein 9 protein-coding 1349359 MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome 9781023 8422 1642765 MEI1 meiosis inhibitor 1 12477932,16683055,14702039,14668445,20379614 150365 AL021453,AL023879,CH471095,Z83840,AK092934,AK093341,AK094461,AK097834,AK128158,AK307341,AY952376,AY952377,NM_152513,BC025400,BC029582,BC032248,BC035720,BC070111,BC144638,CR616456,AK301391,AK301435,AK303957 NP_689726,CAI22918,CAQ10977,EAW60465,CAI17919,BAC04138,BAC04361,BAC05179,BAC87303,AAY27427,AAY27428,AAH25400,AAH32248,AAH35720,AAH70111,Q4G0I1,Q5TIA1,Q6ZRK7,Q8N7P9,Q8N9Z4,AAI68371,BAH13471,BAH13481,BAH14083 Hs.116419 MGC40042 meiosis defective 1|meiosis defective protein 1|meiosis inhibitor protein 1 protein-coding 1348116 MEIG1 meiosis expressed gene 1 homolog (mouse) 15328412,17643375,11329013 644890 NM_001080836,AL360083,AI694434,AA971146,BG189536 NP_001074305,CAI40026,Q5JSS6 Hs.257249 bA2K17.3 OTTHUMP00000019179|meiosis expressed gene 1 homolog protein-coding 1315277 MEIS1 Meis homeobox 1 Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq] 1580863 16087734,18692240,19473990,19559479,19563517,19620287,19776672,19799567,19822783,20062060,20379614,20396431,7565694,19620614,19279021,19240061,19223043,19126776,19109563,18973687,18541116,18410541,18216367,18195096,17805329,17637780,16172981,15681849,15654074,15617687,15489334,15479723,15466398,15161102,15160920,15103390,14966272,14702039,14701735,12609849,12477932,11342305,11331288,11161815,10523646,10471746,10373562,10082572,9847074,9405651,9343407,9226379,9049632,8889548,20541704,19913121,20600580,20628086 4211 NM_002398,NG_011467,AB040810,AC007392,AC092669,AC093641,CH471053,AI203963,AK098174,AK297109,AK297817,AK314949,AL832770,BC036511,BC043503,CB854199,CR612956,U85707 NP_002389,BAB15814,AAN40012,AAY24268,AAY15006,EAW99892,EAW99893,EAW99894,EAW99895,EAW99896,BAG53586,BAH12499,BAH12671,BAG37454,AAH43503,AAC51642,O00470,Q53R57,Q53RD5,Q8IZZ2,Q9HCQ4 Hs.526754,Hs.603755 MGC43380 Meis1, myeloid ecotropic viral integration site 1 homolog|OTTHUMP00000198326|OTTHUMP00000202694|WUGSC:H_NH0444B04.1|homeobox protein Meis1|leukemogenic homolog protein|meis1, myeloid ecotropic viral integration site 1 homolog (mouse) protein-coding 1313085 MEIS2 Meis homeobox 2 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq] 17178831,10764806,18029348,18973687,18408019,15489334,15161102,14702039,12477932,11834421,11438208,11279116,10619030,9383298,9049632,20553494,20523026,15617687,18821565,19559479,19584346,20195266,20379614 4212 AK294411,AK300247,AK311546,AY349358,BC001516,BC001844,BC007202,BC050431,AK226072,NM_002399,NM_170675,NM_170677,NM_170676,NM_170674,NM_172316,NM_172315,AC018563,AC069483,AC078909,CH471125,AF017418,AF178948,AF179896,AF179897,AF179898,AF179899,AK001298,AK055936,AK056038,AK056216,AK056620,AK094531 BAH11758,BAH13242,AAQ56722,AAH01516,AAH01844,AAH07202,AAH50431,O14770,Q6V703,Q96DI2,ABZ92164,ACE87272,ACE86583,ACE86590,NP_002390,NP_733775,NP_733777,NP_733776,NP_733774,NP_758527,NP_758526,EAW92343,EAW92344,EAW92345,EAW92346,EAW92347,EAW92348,EAW92349,EAW92350,EAW92351,EAW92352,EAW92353,EAW92354,EAW92355,EAW92356,EAW92357,EAW92358,AAB70270,AAF81638,AAF81639,AAF81640,AAF81641,AAF81642,BAG51593,BAG51610,BAG51650,BAG51768 Hs.510989 HsT18361|MGC2820|MRG1 Meis homolog 2|Meis1, myeloid ecotropic viral integration site 1 homolog 2|Meis1-related gene 1|OTTHUMP00000160209|TALE homeobox protein Meis2|homeobox protein Meis2|meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)|meis1-related protein 1 2289561 BW440_H protein-coding 1318359 MEIS3 Meis homeobox 3 737633,1580863 17178831,20553494,15489334,12477932,9049632,8950991,15617687 737633 56917 CR605977,CR612502,CR613682,CR613863,CR596359,NM_020160,AC073548,CH471126,AB209455,AK098710,AK289950,AL537583,AY091593,BC014430,BC025404,BC042183,BC045741,BC069251,CF993984,NM_001009813 Q49A38,Q59FK5,Q8TCW1,Q99687,NP_001009813,NP_064545,EAW57478,EAW57479,EAW57480,EAW57481,EAW57482,EAW57483,BAD92692,BAF82639,AAM09846,AAH25404,AAH45741,AAH69251 Hs.380923 DKFZp547H236|MRG2 Meis1, myeloid ecotropic viral integration site 1 homolog 3|homeobox protein Meis3|meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)|meis1-related protein 2 protein-coding 1354497 MEIS3P1 Meis homeobox 3 pseudogene 1 This gene appears to be a retrotransposed pseudogene based on its lack of exons compared to other family members, one of which is found on chromosome 19 (MEIS3). It does appear to be transcribed and has an ORF that may encode a protein of similar size and sequence to that encoded by MEIS3. [provided by RefSeq] 16625196,14702039,9049632,8889548 4213 NR_002211,AC015922,AK054814,BM463727,BQ575773,BU685266,U68385 A6NDR6 Hs.356135 MEIS3|MEIS4|MRG2 meis1, myeloid ecotropic viral integration site 1 homolog 4 (mouse) pseudo 1606930 MEIS3P2 Meis homeobox 3 pseudogene 2 16625196,14702039 257468 NG_002418,AC087499,AK289643 BAF82332 Hs.462484 pseudo 1348772 MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 4219 1319059 MELK maternal embryonic leucine zipper kinase 1300444,1580863 17280616,17960622,17722061,17081983,15489334,14699119,12477932,12400006,11802789,9373149,9305775,9136115,8724849,8125298,16216881,15908796,16159311,19615732,19671159 1300444 9833 NM_014791,AL354932,AL442063,CH471071,AB183427,AB183428,AB267395,AK222811,AK309470,BC014039,CR605252,D79997,AK293284,AK293423,AK293447,AK296820,AK299164,AK300761,AK300821,AK301131,AK302374,HC679607,CS401372 NP_055606,CAI11034,CAI16995,EAW58302,EAW58303,EAW58304,BAF73615,BAF73616,BAF74635,BAD96531,AAH14039,BAA11492,Q14680,Q53GX0,BAH11482,BAH11502,BAH11508,BAH12436,BAH12961,BAH13343,BAH13354,BAH13416,BAH13687,CBL93957,CAL40334 Hs.184339 HPK38|KIAA0175 hMELK|maternal embryonic leucine zipper kinase|pEg3 kinase|protein kinase PK38 protein-coding 1320537 MEMO1 mediator of cell motility 1 16780588,18045866,15489334,15156151,14702039,12477932,11707072,10810093,18955552,19223396,20379614 51072 NM_015955,AL121652,AL121655,CH471053,AB041018,AB041019,AF132961,AF363446,AF529368,AK022169,AK057760,AK290753,AL161966,BC018733,BC036262,BC070046,BC094681,CR606022,CR609744,CR614281,AK297128,NM_001137602 NP_057039,EAX00467,EAX00468,EAX00469,EAX00470,EAX00471,EAX00472,EAX00473,EAX00474,BAD74066,BAD74067,AAD27736,AAL34462,AAQ09602,BAF83442,AAH18733,AAH70046,AAH94681,Q5R2V8,Q9Y316,ABM82960,ABM86151,BAG59632,NP_001131074 Hs.444969 C2orf4|CGI-27|DKFZp434I0135|FLJ25031|MEMO|NS5ATP7 C21orf19-like protein|HCV NS5A-transactivated protein 7|OTTHUMP00000201122|chromosome 2 open reading frame 4|hepatitis C virus NS5A-transactivated protein 7|mediator of ErbB2-driven cell motility 1|memo-1|protein MEMO1 protein-coding 1606647 MEMO1P mediator of cell motility 1 pseudogene 16201836,10830953,11707072 728556 NG_005842,AB041013,AP000689,CH471079,DQ120661,AP001725 EAX09751,ABB92445,Q2VIM3 C21orf19|C2orf4P|MEMO1P|rcC2orf4 pseudo 3340340 MEMO1P2 mediator of cell motility 1 pseudogene 2 645175 AL021939,NG_022967 pseudo 3077586 MEMO1P3 mediator of cell motility 1 pseudogene 3 100462782 AC026353,NG_022281 pseudo 3077604 MEMO1P4 mediator of cell motility 1 pseudogene 4 100462785 AL023575,NG_022698 pseudo 736443 MEN1 multiple endocrine neoplasia I This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1581203,1601326,1601327,1580863,2317273,2317335,2317303,2317327,2317340,2317314,2317319,2317331,2317334,2317360,2317341,2317354,2317292,2317294,2317313,2317351,2317288,2317293,2317347,619590,2317310 19847644,12746426,12649288,12509449,12505253,12477932,12459032,12417605,12324758,12213668,12203793,12169273,12145286,12112656,12050235,11956591,11903322,11836268,11765051,11765049,11740047,11369988,11134142,11027505,10879731,10709111,10647896,10534569,10090472,9888389,9843042,9832038,9792884,9747036,9740255,9683585,9671267,9554741,9498491,9463336,9361035,9341881,9253601,9241276,9215689,9103196,8938448,1968641,10500243,11274402,15331604,14992727,11526476,12874027,12226747,15640349,15563473,12837246,9989505,16690369,14508515,11500056,17500065,9465067,15199122,19474519,19407509,19351817,19208834,19170121,19074834,19011561,18779856,18775714,18752793,18636154,18616711,18601604,18598942,18524795,18435740,18398822,18314630,18310293,18249304,18206547,18084346,18045958,18036394,17953629,17940620,17879353,17853334,17823710,17766710,17766243,17623761,17555500,17555499,17526943,17388795,17356705,17353931,17194968,17188139,17179192,17138574,17050672,17047380,16997566,16951149,16840830,16604156,16595707,16465412,16368411,16324211,16239140,15944766,15754732,15670192,15635078,15489334,15374998,15292357,15281352,15256779,15254225,15240620,15205994,15150273,15070966,15054094,15034196,15031321,15026366,14985373,14559791,14516745,12915685,11302744,17854391,18082152,18549467,19079338,19294466,19309299,19391077,19596783,19654304,19749796,19818711,19837273,20058152,20064463,20093773,20453000,20507346,20706287,20961854,16510874,19913121,20628086,20669561,16510875,16618927,16651450,18029348,20566584,20969866 1581203,1601326,1601327,2317273,2317335,2317303,2317327,2317340,2317314,2317319,2317331,2317334,2317360,2317341,2317354,2317292,2317294,2317313,2317351,2317288,2317293,2317347,619590,2317310 4221 Y12338,EF443091,EF443092,EF443093,EF443094,EF443095,EF443096,EF443097,U93237,AA877856,AJ297485,AJ297486,AJ297487,AJ297488,AJ297489,BC002544,BC002664,BE267140,CR598705,CR605845,U93236,NM_130804,NM_130802,NM_000244,NM_130799,NM_130800,NM_130801,NG_008929,AJ132593,AJ132594,AJ132596,AP001462,AY306001,CH471076,NM_130803 AAC51228,CAA73007,O00255,Q7Z5Y5,Q9BUF0,Q9GZQ5,Q9UE24,ABM81683,ABQ12621,ABQ12622,ABQ12623,ABQ12624,ABQ12625,ABQ12626,ABQ12627,AAC51229,AAC51230,CAC14129,CAC14130,CAC14131,CAC14132,CAC14133,AAH02544,AAH02664,EAW74315,NP_570715,NP_570716,NP_570714,NP_000235,NP_570711,NP_570712,NP_570713,AAP74572,EAW74303,EAW74304,EAW74305,EAW74306,EAW74307,EAW74308,EAW74309,EAW74310,EAW74311,EAW74312,EAW74313,EAW74314 Hs.423348 MEAI|SCG2 OTTHUMP00000070175|OTTHUMP00000070176|OTTHUMP00000070181|OTTHUMP00000070182|endocrine adenomatosis, multiple|menin|multiple endocrine neoplasia 1 protein-coding 1318950 MEOX1 mesenchyme homeobox 1 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 7987315,17764081,16582099,15793308,15489334,15039437,12477932,11423130,9373945,7874108 4222 NM_001040002,NM_013999,NM_004527,AC004149,AC068675,CH471178,AK291139,AW410297,BC069474,BC069506,BE898972,BG677020,BQ003431,BQ028272,BX284090,U10492,U10493 NP_001035091,NP_054705,NP_004518,EAW51671,EAW51672,BAF83828,AAH69474,AAH69506,AAA19983,AAA19984,P50221,Q15069,ABZ92165 Hs.438 MOX1 homeobox protein MOX-1|mesenchyme homeo box 1 protein-coding 733480 MEOX2 mesenchyme homeobox 2 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq] 1580863 16335786,9073066,7713505,19383287,19340300,17957028,17074759,16344560,16116430,15489334,12853948,12842453,12690205,12477932,11423130,10831122,8266988,7607679,16189514,19336002,16713569,19760604,20379614,20421348 4223 NM_005924,AC004452,AC005550,CH236948,CH471073,AK309472,AK313386,BC017021,BQ025060,CR536553,DA586635,L36328,X82629 NP_005915,AAC06184,AAC33152,EAL24289,EAW93666,BAG36184,AAH17021,CAG38790,AAA58497,P50222,Q6FHY5,CAA57949 Hs.170355 GAX|MOX2 growth arrest-specific homeo box|growth arrest-specific homeobox|homeobox protein MOX-2|mesenchyme homeo box 2|mesenchyme homeo box 2 (growth arrest-specific homeo box) protein-coding 735747 MEP1A meprin A, alpha (PABA peptide hydrolase) 1580863 9288916,8262185,19262505,17195012,16378686,16344560,12556482,12477932,12189145,11301339,11278902,11267665,10898933,10620696,10348167,9914532,9373149,8760356,8660687,20806899,8063866,7774936,7340337,1939172,8125298,20631730 4224 NM_005588,AL161618,CH471081,AF478685,AK225212,AK290282,AK315246,AK315840,BC131714,BC143649,BC143650,BC143651,DA432559,M82962 NP_005579,CAC21508,EAX04306,AAL85339,BAF82971,BAG37669,BAF98731,AAI31715,AAI43652,AAA21338,Q16819 Hs.179704 PPHA N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit alpha|PABA peptide hydrolase|PPH alpha|bA268F1.1 (meprin A alpha (PABA peptide hydrolase))|endopeptidase-2|meprin 1 alpha|meprin A subunit alpha protein-coding 1352087 MEP1AL1 meprin A, alpha-like 1 10405340,10405340 642840,10854 AL773545,NG_006472 MEP1AL1 pseudo 1342681 MEP1AL2 meprin A, alpha-like 2 10405340,10405340 10853,644777 AL591479,NG_006473 MEP1AL2 pseudo 1348191 MEP1AL3 meprin A, alpha-like 3 10405340 10852 1350793 MEP1AL4 meprin A, alpha-like 4 10405340 10851 4742435 MEP1AP3 meprin A, alpha pseudogene 3 389747 AL513478,NG_006474 pseudo 4145435 MEP1AP4 meprin A, alpha pseudogene 4 643157 BX664718,CR848007,NG_006471 pseudo 737385 MEP1B meprin A, beta Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes and in leukocytes and certain cancer cells. Mature meprins are oligomers of evolutionarily related, separately encoded alpha and/or beta subunits. Homooligomers of meprin-alpha (MEP1A; MIM 600388) are secreted; oligomers containing meprin-beta are associated with the plasma membrane. Substrates include bioactive peptides and extracellular matrix proteins. See MIM 600388 for further information on meprins.[supplied by OMIM] 1580863 12477932,14968112,19748582,20379614,9288916,17195012,16095909,12941954,12556482,12399461,12387727,12093806,11278902,11267665,8760356,8660687,8262185,8063866,7774936,7710697,8939981,9914532,20806899,20631730 4225 NM_005925,AC011825,AC015563,CH471088,AY695931,BC136559,BC144244,X81333 NP_005916,EAX01284,EAX01285,AAU05377,AAI36560,AAI44245,CAA57107,Q16820 Hs.194777 N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit beta|N-benzoyl-L-tyrosyl-p-amino-benzoic acid hydrolase beta subunit|PABA peptide hydrolase|PPH beta|endopeptidase-2|meprin A subunit beta|meprin B protein-coding 1603022 MEPCE methylphosphate capping enzyme 17978174,17643375,14702039,12690205,12477932,12358911,19615732,12107412,15342556,16712791,18281698,19906723 56257 NM_019606,AC092849,AF264752,CH236956,CH471091,AK000264,AK055964,AK291366,BC000556,BC016396,BC018935,CR613286,AI432993,BP217791,CB152355,CD672398,NM_001194990,NM_001194991,NM_001194992 NP_062552,AAF74767,EAL23834,EAW76534,EAW76535,EAW76536,EAW76537,BAA91040,BAG51598,BAF84055,AAH00556,AAH16396,AAH18935,Q7L2J0,NP_001181919,NP_001181920,NP_001181921 Hs.178011 BCDIN3|FLJ20257 7SK snRNA methylphosphate capping enzyme|OTTHUMP00000207606|OTTHUMP00000207607|bicoid-interacting protein 3 homolog|bin3 homolog|bin3, bicoid-interacting 3, homolog protein-coding 736255 MEPE matrix extracellular phosphoglycoprotein 1580863 12477932,11414762,10945470,17474147,19453261,19005008,18547474,15954904,15329369,15292364,15108058,12791601,12489176,20581062,19679205,19801982,19998030 56955 NM_020203,AC093768,CH471057,AF325916,AJ276396,AK075076,AK307774,BC128158,DC314534,DC326111,DQ854717,NM_001184694,NM_001184695,NM_001184696,NM_001184697 NP_064588,EAX06001,EAX06002,EAX06003,AAK70343,CAB97250,BAC11386,AAI28159,Q8NC19,Q9NQ76,ABI64294,NP_001171623,NP_001171624,NP_001171625,NP_001171626 Hs.676357 OF45 OTTHUMP00000219482|matrix extracellular phosphoglycoprotein|matrix, extracellular phosphoglycoprotein with ASARM motif (bone)|osteoblast/osteocyte factor 45 protein-coding 1350045 MER5 antigen identified by monoclonal antibody 2D8 4228 731631 MERTK c-mer proto-oncogene tyrosine kinase This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq] 1582496,1580863 20591486,20664904,16675557,16335952,15733062,15479819,15146197,15130911,15111602,12768229,12477932,11727200,11062461,10343112,8889548,8702477,8621659,7688222,8939948,9891051,20637106,20098747,8086340,19541935,19403518,18922854,18815424,18620092,18587056,18250462,18174230,18039660,17047157,17005688,16837475,16710167,20130272,12920122,15188402,15231748,16288044,17626743,18246816,19643988,19922767,20300561,20379614,20538656,20959443,20978472,20801516 1582496 10461 NM_006343,NG_011607,AC093675,AC104651,AF260529,AF366903,CH471245,AK026681,AK294196,AK308695,AK316584,AL705756,AW627665,BC114917,BC114918,BM719997,BX474860,CA454601,CN371299,CN371300,CR598172,D16316,U08023 NP_006334,AAY24213,AAX93144,AAG33129,AAK54121,EAW52096,EAW52097,BAG57511,BAG38172,AAI14918,AAI14919,BAA03823,AAB60430,Q07941,Q12866,Q1RMG3,Q53QW0,Q53R53,Q96T45 Hs.306178 MER|MGC133349|RP38|c-mer MER receptor tyrosine kinase|OTTHUMP00000203538|STK kinase|proto-oncogene c-Mer|receptor tyrosine kinase MerTK|tyrosine-protein kinase Mer protein-coding 1323243 MESDC1 mesoderm development candidate 1 15489334,15146197,12477932,11247670,16989816 59274 NM_022566,AC068870,CH471136,AY007810,BC001373,BC084554,CN370100,CR607674,DN995580 NP_072088,EAW99108,AAG41058,AAH84554,Q9H1K6 Hs.513071 MGC99595 mesoderm development candidate 1 protein-coding 1321194 MESDC2 mesoderm development candidate 2 1580863 11247670,16989816,15917269,15489334,12975309,12581525,12477932,12168954,10737800,10508479,7788527,19746449 23184 AC068870,CH471136,CS185566,AK026606,AY359110,BC009210,BC012746,BE004295,CR593224,CR595465,CR597226,CR602580,CR605704,CR611437,CR623809,CR625566,D42039,NM_015154 NP_055969,EAW99109,EAW99110,CAJ42747,AAQ89468,AAH09210,AAH12746,BAA07640,Q14696 Hs.578450 BOCA|KIAA0081|MESD LDLR chaperone MESD|mesoderm development protein|renal carcinoma antigen NY-REN-61 protein-coding 1603631 MESP1 mesoderm posterior 1 homolog (mouse) 11578861,8787751,18297060,12477932 55897 NM_018670,AC079075,CH471101,AL357533,AL357534,AL357535,AL357570,AL357571,BC006219 NP_061140,EAX02066,CAB93425,CAB93426,CAB93427,AAH06219,Q9BRJ9,Q9NSF0,ABZ92404 Hs.447531 MGC10676|bHLHc5 class C basic helix-loop-helix protein 5|mesoderm posterior protein 1 protein-coding 1606451 MESP2 mesoderm posterior 2 homolog (mouse) This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq] 18485326,16996494,15122512,14516699,12477932,11578861 145873 NM_001039958,NG_008608,AC079075,BK000142,AL360139,BC111413 NP_001035047,DAA00304,AAI11414,Q0VG99 Hs.37311 SCDO2|bHLHc6 class C basic helix-loop-helix protein 6|mesoderm posterior protein 2 protein-coding 1345318 MEST mesoderm specific transcript homolog (mouse) This gene encodes a member of the [alpha]/[beta] hydrolase fold family and has isoform specific imprinting. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Three transcript variants encoding two distinct isoforms have been identified for this gene. A pseudogene for this locus is located on chromosome 6. [provided by RefSeq] 17353931,9158153,18029348,18676680,18644838,18585117,17450433,16338457,15547750,12754712,12690205,12477932,12095916,12023987,11920156,11821432,11754049,11718568,11536368,10958657,10955473,10860668,10679925,10631159,10554015,9781054,9526615,9192843,8884280,19019082,19170196,19625176,19692168,20628624,20339302 4232 Y11534,NM_177525,NM_177524,NM_002402,NG_009226,AB045582,AC007938,CH236950,CH471070,AK098397,AK298984,AK312688,BC002413,BC014564,BC018695,BC090049,BI459412,BT007056,CR457040,CR590807,CR593946,CR594758,BC011908,CR598757,CR609130,CR611176,CR613901,CR627364,D78611,D87367 CAA72297,Q5EB52,ABM81688,ABM83690,ABM84851,ABM87003,NP_803490,NP_803491,NP_002393,BAC02716,EAL24086,EAL24087,EAW83765,EAW83766,EAW83767,BAG61078,BAG35568,AAH02413,AAH11908,AAH14564,AAH18695,AAH90049,AAP35705,CAG33321,CAH10465,BAA11432,BAA21757 Hs.270978 DKFZp686L18234|MGC111102|MGC8703|PEG1 OTTHUMP00000210362|OTTHUMP00000210364|OTTHUMP00000210367|mesoderm-specific transcript homolog protein|paternally expressed gene 1|paternally-expressed gene 1 protein protein-coding 1354193 MESTIT1 MEST intronic transcript 1 (non-protein coding) Imprinted gene(s) on human chromosome 7 are thought to be involved in Russell-Silver syndrome (SRS; MIM 180860), based on the fact that 10% of patients have maternal uniparental disomy of chromosome 7. However, involvement of the known imprinted genes GRB10 (MIM 601523), PEG10, and MEST (MIM 601029) in SRS had yet to be established.[supplied by OMIM] 14962666,12746419,12095916,11821432 317751 NR_004382,AC007938,AF482998,CH236950 MEST-IT|MESTIT1|NCRNA00040|PEG1-AS miscrna 1605813 MESTP1 mesoderm specific transcript homolog (mouse) pseudogene 1 338470 NG_002694,AL445439 pseudo 4110191 MESTP2 mesoderm specific transcript homolog (mouse) pseudogene 2 100421572 AC009654,NG_025325 pseudo 3231977 MESTP3 mesoderm specific transcript homolog (mouse) pseudogene 3 645641 AC096566,NG_022008 pseudo 3132381 MESTP4 mesoderm specific transcript homolog (mouse) pseudogene 4 131572 AADB02003231,ABBA01024972,AC097361 pseudo 70824 MET met proto-oncogene (hepatocyte growth factor receptor) The proto-oncogene MET product is the hepatocyte growth factor receptor and encodes tyrosine-kinase activity. The primary single chain precursor protein is post-translationally cleaved to produce the alpha and beta subunits, which are disulfide linked to form the mature receptor. Various mutations in the MET gene are associated with papillary renal carcinoma. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1642762,2299174,1600122,1600123,1600124,70557,1580863,2317613,2317505,2317526,2317534,2317601,2317487,2317495,2317532,2317574,2317235,2317441,2317559,2317467,2317469,2317493,2317515,2317546,2317547,2317555,2317520,2317530,2317513,2317516,2317606,2317607,2317605,2317575,2317582,2317554,2317564,2317585,2317612,2317578 19403030,20067553,20580899,16867270,18504429,18578997,20150826,20421991,10722725,10871282,11439336,11733063,11929826,12370829,12730235,14602071,15167892,15542841,15546961,15713673,16101282,16188938,17178829,17353931,17449471,18024311,18471412,19165419,19167335,19170196,19360663,19381876,19483716,19546160,19549766,19556890,19625176,19638428,19651775,19665015,19681062,19692168,19713535,19716155,19723643,19773544,19808904,19812598,19817696,19834061,19854350,19881549,19900460,19934279,19940359,20011629,20019837,20042668,20061986,20072648,20080979,20085644,20107422,20126471,20129249,20154724,20164036,20164843,20190195,20198305,20198821,20331976,20416453,20424473,20512480,16397241,20200025,20331593,20514461,20529867,20367286,20639860,19006648,19002214,18992144,18990695,18973760,18938767,18930356,18836087,18819921,18813782,18779368,18709663,18676680,18636147,18628476,18628208,18625714,18593989,18593464,18564920,18559601,18497953,18497076,18495663,18456660,18451162,18451158,18395971,18379349,18316611,18291418,18273647,18272501,18258742,18192688,18187039,18180459,18172343,18159174,18093943,18063891,18059365,18053801,18025083,17992475,17981731,17804715,17704785,17702746,17696172,17689924,17684486,17673463,17662939,17611703,17593080,17463250,17459054,17372204,17332337,17322284,17243166,17215249,17192257,17132227,17079873,17062664,17062641,17053076,16953230,16951184,16912172,16891453,16870139,16857786,16804974,16710476,16709175,16627020,16547140,16537444,16498238,16455654,16426920,16403482,16331686,16278380,16216128,16192631,16186806,16158056,16139245,16099863,16039997,15980634,15911745,15870272,15849510,15828871,15772665,15760460,15720819,15717924,19010793,15678502,15672865,15659325,15632204,15596854,15590419,15579033,15516982,15504247,15492846,15466866,15448002,15339794,15327888,15302591,15287857,15254691,15192042,15184888,15173072,15161909,15123705,15123609,15075332,14719064,14627992,14559966,14528000,14524531,14519655,14509156,14508824,12915129,12884908,12883672,12856716,12853948,12847110,12793903,12766170,12746450,12726861,8380735,8302603,8294430,8247543,7961992,7866434,7731718,7708691,7513258,7511210,4069211,3821733,3325883,1827664,1655790,1655405,1611909,17679095,18273061,14684163,11254878,15735664,15261143,15161915,12716900,10871856,11571281,2819873,15314156,1846706,19639388,19617568,19567831,19548256,19502802,19500853,19490101,19471602,19470725,19450681,19433454,19432801,19380521,19359592,19357348,19353596,19351817,19321255,19318497,19302530,19297528,19255323,19255034,19220894,19190120,19186126,19151767,19139719,19126036,19121849,19118941,19117057,19109251,19107227,19100682,19096301,19096300,19074879,19065669,19050584,19037978,12709413,12707786,12690205,12686592,12682635,12651912,12646256,12611639,12595309,12594808,12538453,12524084,12477932,12475979,12460923,12244174,12233882,12198496,12183053,12168776,12147692,11948964,11895493,11894096,11864613,11839685,11750879,11741535,11063574,10995442,10734310,10069803,9927037,9847074,9837958,9660480,9440692,9326629,9140397,8947043,8662889,8662733,20370683,20406949,18839537,20661223,20562909,19765730,20178463,20529820,20615438,20670955,19472090,20021260,20937841,20949619,21043826,20489150 1642762,2299174,1600122,1600123,1600124,70557,2317613,2317505,2317526,2317534,2317601,2317487,2317495,2317532,2317574,2317235,2317441,2317559,2317467,2317469,2317493,2317515,2317546,2317547,2317555,2317520,2317530,2317513,2317516,2317606,2317607,2317605,2317575,2317582,2317554,2317564,2317585,2317612,2317578 4233 EU176015,NM_001127500,NM_000245,NG_008996,AC002080,AC002543,AC004416,CH236947,CH471070,M15325,M35073,AA278232,AB209898,AF075090,AI630755,AK025784,AK298552,AK309532,BC016592,BC027979,BC130420,BX648782,EU826567,EU826568,EU826569,EU826570,EU826571,EU826572,EU826573,EU826574,EU826575,EU826576,EU826577,EU826579,EU826581,J02958,M35074,U11813,X54559,AK296974,EU826580 ABX52004,NP_001120972,NP_000236,AAB54047,AAC60383,AAF66137,EAL24359,EAW83507,EAW83508,EAW83509,EAW83510,EAW83511,AAA59585,AAA59589,BAD93135,BAG60748,BAG59517,AAH27979,AAI30421,ACF47603,ACF47604,ACF47605,ACF47606,ACF47607,ACF47608,ACF47609,ACF47610,ACF47611,ACF47612,ACF47613,ACF47615,ACF47616,ACF47617,AAA59591,AAA59590,AAA68513,CAB56793,P08581,Q14825,Q59EB3,Q9UEJ3,Q9UMU9 Hs.132966 AUTS9|HGFR|RCCP2|c-Met|cMet HGF receptor|HGF/SF receptor|SF receptor|hepatocyte growth factor receptor|mesenchymal-epithelial transition factor|met proto-oncogene tyrosine kinase|oncogene MET|proto-oncogene c-Met|scatter factor receptor|tyrosine-protein kinase Met protein-coding 1313634 METAP1 methionyl aminopeptidase 1 1580863 16386852,17353931,14532271,17929833,7788527,17114291,16344560,16274222,15635413,15592455,15489334,12477932,12144506,19898482,20379614,20521764 23173 NM_015143,AC019131,CH471057,AK304239,AK309465,BC030054,D42084,DA178462,CR936632 NP_055958,EAX06082,EAX06083,BAG65108,AAH30054,BAA07679,P53582,Q5CZ91,CAI56775 Hs.480364 DKFZp781C0419|KIAA0094|MAP1A|MetAP1A MAP 1|metAP 1|methionine aminopeptidase 1|peptidase M 1 protein-coding 732103 METAP2 methionyl aminopeptidase 2 This gene is a member of the methionyl aminopeptidase family and encodes a protein that binds 2 cobalt or manganese ions. This protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent protein. Increased expression of this gene is associated with various forms of cancer and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. A pseudogene of this gene is located on chromosome 2. [provided by RefSeq] 1580863 20689807,19703310,20521764,8858118,15102683,18828628,18264137,17446530,16790550,16632353,16386852,16274222,16267007,16160854,15962312,15814649,15544353,15489334,15336565,15126329,14702039,14532271,12718546,12581743,12477932,12118091,11994292,11485930,11123929,10388536,9860943,9812898,9177176,8098621,7873610,7738010,7644482,15782160 10988 NM_006838,AK300836,BC013782,AC018475,CH471054,AK055692,AK091730,AK125296,AK315559,BC016008,CR591800,CR601954,CR614506,CR620412,DW409106,U13261 NP_006829,EAW97537,EAW97538,EAW97539,BAC03733,BAG54178,BAG62487,BAG37935,AAH13782,AAH16008,AAC63402,P50579,Q8NB11,Q96B43,ABM81939,ABM85119 Hs.444986 MAP2|MNPEP|p67|p67eIF2 MAP 2|eIF-2-associated p67 homolog|initiation factor 2-associated 67 kDa glycoprotein|metAP 2|methionine aminopeptidase 2|peptidase M 2 protein-coding 1353878 METRN meteorin, glial cell differentiation regulator Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM] 15616553,15489334,15085178,14702039,12477932,11157797 79006 NM_024042,AE006464,CH471112,Z97653,AK057053,AL360260,BC000662,CR612756,XM_003119646,XR_111624,CS179964,HB435052 NP_076947,AAK61247,EAW85747,EAW85748,CAB56188,AAH00662,XP_003119694,Q9UJH8,CAL15420,CAZ68030 Hs.533772 C16orf23|MGC2601|c380A1.2 meteorin protein-coding 1348183 METRNL meteorin, glial cell differentiation regulator-like 14702039,12477932 284207 NM_001004431,A75737,AC130371,AC144831,CH471099,AK093748,BC050568,BC082252,BC118558,BC118638,HC434525 CAB58552,NP_001004431,EAW89833,BAG52757,AAH50568,AAH82252,AAI18559,AAI18639,Q147U6,Q641Q3,CBJ57243 Hs.378821 MGC99788 meteorin-like protein protein-coding 1604299 METT10D methyltransferase 10 domain containing 18021804,16344560,14702039,12477932,7698749,20602751,17643375 79066 AK294547,NM_024086,AC006435,AC015799,CH471108,AK027410,AK296464,AL832612,BC001213,BC050603,BX647255,DB227557 NP_076991,EAW90537,EAW90538,EAW90539,BAB55094,BAH11803,BAH12363,CAD89999,AAH01213,AAH50603,Q86W50 Hs.632237 MGC3329 methyltransferase 10 domain-containing protein|putative methyltransferase METT10D protein-coding 1601980 METT11D1 methyltransferase 11 domain containing 1 18029348,17207965,19169841,16713569,16189514,12477932,11278769,20877624 64745 NM_001029991,NM_022734,AF321003,AL355922,CH471078,AF321002,AK024512,AK303484,AK304180,AK315999,BC005053,BG437086,CR591282,CR593535,CR599298,CR601144,CR605494,CR607443,CR610640,CR612311,CR614515,CR623009,CR626126,CR626316,CR626514,U56431,HI574204,HI574206 NP_001025162,NP_073571,ADQ31778,EAW66432,EAW66433,EAW66434,AAK08200,BAB14919,BAG64520,BAG65060,BAH14370,AAH05053,Q9H7H0,AAK08201,CBX47591,CBX47592 Hs.512693 FLJ20859 false p73 target gene protein|methyltransferase 11 domain-containing protein 1|protein RSM22 homolog, mitochondrial protein-coding 1604216 METT5D1 methyltransferase 5 domain containing 1 16344560,14702039,12477932 196074 NM_001113528,AC023206,AC087376,AC104978,CH471064,AK091298,AL832668,BC030997,BC066900,BC105287,CR601005,DB327106,DB458698,NM_152636 NP_689849,NP_001107000,EAW68266,EAW68267,EAW68268,EAW68269,BAC03631,AAH30997,AAI05288,A6NJ78 Hs.243326 FLJ33979 OTTHUMP00000197378|methyltransferase 5 domain-containing protein 1|probable S-adenosyl-L-methionine-dependent methyltransferase METT5D1|putative S-adenosyl-L-methionine-dependent methyltransferase METT5D1 protein-coding 1605185 METT5D2 methyltransferase 5 domain containing 2 100130758 NG_011761,AC106708,CH471052 EAW78723,P0C7V9 pseudo 1352209 METTL1 methyltransferase like 1 This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq] 1580863 15861136,12403464,16189514,15489334,12539042,12477932,10329009,9373149,8125298,7566098,19525955,19692168,20394945,19913121,20628086,18029348 4234 NM_023033,NM_005371,AC025165,CH471054,Y18642,AA317248,AI168455,AK223202,AK314851,BC000550,BG420288,BQ651940,CR595086,W56190,X96698,Y18643 NP_075422,NP_005362,EAW97066,EAW97070,EAW97071,CAA77238,BAD96922,BAG37368,AAH00550,CAA65470,CAA77239,Q53FS9,Q9UBP6 Hs.42957 C12orf1|FLJ95748|TRM8|YDL201w D1075-like gene product|methyltransferase-like 1|methyltransferase-like protein 1|tRNA (guanine-N(7)-)-methyltransferase|tRNA(m7G46)-methyltransferase protein-coding 1604914 METTL10 methyltransferase like 10 14702039,12477932,16385451 399818 NM_212554,AF318345,AK022354,AL832292,BC026167,CR604214,AC068896 NP_997719,AAL55852,CAI46179,AAH26167,Q5JPI9,Q8TC28,Q8WYV4 Hs.726310 C10orf138|Em:AC068896.3|FLJ13019 methyltransferase-like protein 10 protein-coding 1606300 METTL11A methyltransferase like 11A 15231747,15489334,15164053,12477932,10931946,20098747,20668449 28989 NM_014064,AL590369,CH471090,AF110776,AI802417,AK290957,AK292332,AK307056,AK313829,BC001396,BC033234,BF316784,AK298840 NP_054783,CAI14507,CAI14508,EAW87893,EAW87894,EAW87895,AAF14859,BAF83646,BAF85021,AAH01396,AAH33234,Q9BV86,BAG60968 Hs.522433 AD-003|C9orf32|NRMT|NTM1A N-terminal RCC1 methyltransferase|X-Pro-Lys N-terminal protein methyltransferase 1A|alpha N-terminal protein methyltransferase 1A|methyltransferase-like protein 11A protein-coding 1601929 METTL11B methyltransferase like 11B 16710414,12477932 149281 NM_001136107,AL445203,BC157860,BC171858 NP_001129579,CAH72139,AAI57861,AAI71858,Q5VVY1 Hs.553612 C1orf184|NTM1B OTTHUMP00000034162|X-Pro-Lys N-terminal protein methyltransferase 1B|alpha N-terminal protein methyltransferase 1B|methyltransferase-like protein 11B protein-coding 2304141 METTL12 methyltransferase like 12 17154719,16554811,16368877,15489334,12477932 751071 NM_001043229,AP001458,AK297138,BC041359,BC147001,BC147011,BG676615,BX348415,BY796224 NP_001036694,BAH12507,AAI47002,AAI47012,A8MUP2 Hs.640726 Putative methyltransferase LOC751071, mitochondrial|methyltransferase LOC751071, mitochondrial-like|methyltransferase-like protein 12, mitochondrial protein-coding 1604624 METTL13 methyltransferase like 13 16710414,16341674,15489334,14702039,12477932,12168954,10810093,10048485,9373149,8125298,17353931 51603 AK001172,AK027552,AK027621,AK027886,AK074552,AK094818,AK124482,AK129561,AK223493,AK291740,AK304471,AL049669,BC006814,BC029083,BI091265,BM833930,BX094025,CR594527,CR595608,NM_001007239,NM_014955,AL031864,CH471067,AB020666,AB242174,AB242175,AF132936,NM_015935 AAD27711,BAG50862,BAG51342,BAB55240,BAG51390,BAC11055,BAD97213,BAF84429,BAG65285,CAB41243,AAH06814,AAH29083,Q8N6R0,NP_057019,NP_001007240,NP_055770,CAI22000,CAI22001,CAI22002,CAI22003,EAW90911,EAW90912,EAW90913,EAW90914,BAA74882,BAH58098,BAH58099 Hs.494705 5630401D24Rik|CGI-01|FLJ10310|KIAA0859|feat antiapoptotic protein FEAT|methyltransferase-like protein 13 protein-coding 1605646 METTL14 methyltransferase like 14 14702039,12477932,10997877,20332099,17207965 57721 NM_020961,AC110079,CH471229,AB046847,AK055555,AK296056,BC006565,BC007449,CR614338 NP_066012,EAW73651,EAW73652,BAB13453,BAB70954,BAG58819,AAH06565,AAH07449,Q9HCE5,ADQ32728 Hs.657806 KIAA1627 OTTHUMP00000219837|methyltransferase-like protein 14 protein-coding 1601800 METTL2A methyltransferase like 2A 16625196,16344560,15489334,15342556,14702039,12477932,11042152,11738826 339175 NM_181725,AC008026,AF161384,AF161385,AK000991,AK022822,BC006985,BF975211,BP255803,CR595349,DA027807,CH471109 NP_859076,AAF28944,AAF28945,BAG50845,BAB14260,AAH06985,Q96IZ6,Q9P0B4,EAW94353 Hs.381204 FLJ12760|METTL2 methyltransferase-like protein 2A protein-coding 1350099 METTL2B methyltransferase like 2B This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 16625196,15489334,15342556,14702039,12975309,12477932,11738826,11042152 55798 NM_018396,AC010655,AC090114,AK002212,AK125539,AK299960,AK302775,AY358237,BC064929,BC107586,BC121115,BC121116,BP247182,CR591884 NP_060866,BAA92136,BAG61786,BAG63980,AAQ88604,AAH64929,AAI07587,AAI21116,AAI21117,Q6P1Q9,Q6UXR5 Hs.433213 FLJ11350|FLJ12760|METL|METTL2|METTL2A|PSENIP1 OTTHUMP00000212398|methyltransferase-like protein 2B protein-coding 1348378 METTL3 methyltransferase like 3 This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq] 1580863 9409616,16964243,15489334,14702039,12508121,12477932,12355263,11470232 56339 NM_019852,NG_001332,AE000658,AF014837,AF283991,CH471078,AK000222,AK093509,AK097873,AK098655,AK300289,AK304251,AK304570,BC001650,BC003031,BC014427,BC052244,BX247964,CR590636,CR591477,CR591863,CR593531,CR594281,CR598589,CR600918,CR606689,CR613091,CR621767,CR626750 NP_062826,AAB71850,AAG13956,EAW66379,BAG52732,BAG62046,BAG65118,BAG65361,AAH01650,AAH03031,AAH52244,CAD62303,Q86U44,ABZ92354 Hs.168799 IME4|M6A|MGC4336|MT-A70|Spo8 N6-adenosine-methyltransferase 70 kDa subunit|adoMet-binding subunit of the human mRNA (N6-adenosine)-methyltransferase|mRNA m(6)A methyltransferase|methyltransferase-like protein 3 protein-coding 1346719 METTL4 methyltransferase like 4 737633 15489334,14702039,12477932,8889548,16341674 737633 64863 NM_022840,AP005136,CH471113,AK022584,AK026670,AK290001,AL834296,BC056270,BC111020,BC136766,BC136767,BI489580,BI771801,BM828675,BU741018,BX647373 NP_073751,EAX01698,BAB15520,BAF82690,CAD38969,AAH56270,AAI11021,AAI36767,AAI36768,Q8N3J2 Hs.126888 FLJ23017|HsT661|MGC117235 methyltransferase-like protein 4 protein-coding 1606016 METTL5 methyltransferase like 5 15815621,15489334,14702039,12477932,11042152 29081 NM_014168,AC009967,CH471058,AF161482,AF201938,AK001321,BC000921,BC093014,CR609377,CR616340 NP_054887,AAY14869,EAX11252,EAX11253,EAX11254,EAX11255,AAF29097,AAF86874,BAA91622,AAH00921,AAH93014,Q9NRN9,Q9P027 Hs.470553 FLJ10459|HSPC133 OTTHUMP00000205107|OTTHUMP00000205108|OTTHUMP00000205109|methyltransferase-like protein 5 protein-coding 1605295 METTL6 methyltransferase like 6 15489334,14702039,12477932 131965 BG701912,CR612029,NM_152396,AC027125,CH471055,AK057791,AK293370,BC022400 AAH22400,Q8TCB7,ABM82944,ABM86134,NP_689609,EAW64232,EAW64233,BAB71574,BAG56884 Hs.149487 MGC24132 OTTHUMP00000210877|methyltransferase-like protein 6 protein-coding 1601879 METTL7A methyltransferase like 7A 15489334,14702039,12975309,12477932,9373149,8125298,17207965 25840 NM_014033,AC008121,CH471111,CS072370,AF113007,AJ536233,AK023693,AK024409,AK130665,AK225595,AK225689,AK293356,AK307071,AL050159,AY358797,BC004492,BC008180,BM805242,CR612149 NP_054752,EAW58154,EAW58155,EAW58156,CAI93508,AAF20268,CAD60207,BAB14643,BAB14913,BAG56872,CAB43300,AAQ89157,AAH04492,AAH08180,Q9H8H3,ACE87748,ACE87066,ADQ31657 Hs.655369,Hs.725674 AAM-B|DKFZp586A0522 methyltransferase-like protein 7A|protein AAM-B protein-coding 1603260 METTL7B methyltransferase like 7B 12975309,12477932,15489334 196410 NM_152637,AC009779,CH471054,AK290112,AY358508,BC020509,CR595874 NP_689850,EAW96818,BAF82801,AAQ88872,Q6UX53 Hs.51483 MGC17301 methyltransferase-like protein 7B protein-coding 1605633 METTL8 methyltransferase like 8 14702039,12477932,17207965 79828 AI129960,AK023396,AK024046,AK055616,AK093218,AK124092,AK292108,BC025250,CR595622,CR612022,CR614132,DC349499,NM_024770,AC007739,AC007969,AC008065,CH471058,AK297141 EAX11217,BAB14797,BAG54006,BAF84797,AAH25250,Q9H825,NP_079046,AAX93284,AAX93077,EAX11214,EAX11215,EAX11216,ADQ32256,BAG59642 Hs.135146 FLJ13334|FLJ13984|FLJ31054|FLJ42098|FLJ77788|TIP OTTHUMP00000163093|OTTHUMP00000163094|OTTHUMP00000163095|OTTHUMP00000200296|methyltransferase-like protein 8|tension-induced/inhibited protein protein-coding 1602890 METTL9 methyltransferase like 9 16837177,16730941,16303743,12477932,11132146,10810093,16413759,20237496 51108 NM_016025,NM_001077180,AC005632,AC092719,AJ278581,CH878403,CQ782469,CQ783008,AF497245,AJ278577,AJ278578,AK025565,AK074529,AF151839,AK075022,AK075237,AK313077,BC000195,BM149762,BU621488,BX647201,CR615766 NP_057109,NP_001070648,CAC20439,EAW50517,EAW50518,EAW50519,EAW50520,EAW50521,EAW50522,CAF85755,CAF86217,Q8TD49,Q9H1A3,AAD34076,AAM18072,CAC20437,CAC20438,BAC11042,BAC11356,BAC11490,BAG35903,AAH00195 Hs.279583 CGI-81|DREV|DREV1|FLJ21912|PAP1 DORA reverse strand protein 1|methyltransferase-like protein 9|p53 activated protein 1 protein-coding 1625811 MEX3A mex-3 homolog A (C. elegans) 17267406,14702039,12477932 92312 NM_001093725,AL355388,AK024097,AK095491,AK125482,AY950677,BC033283,CX873216 NP_001087194,AAY34145,A1L020 Hs.591496 MEX-3A|RKHD4 RING finger and KH domain-containing protein 4|RNA-binding protein MEX3A|ring finger and KH domain containing 4|ring finger and KH domain containing protein protein-coding 1346115 MEX3B mex-3 homolog B (C. elegans) 737633,1580863 20531441,19079261,18779327,17267406,16381901,15761153,15489336,15489334,14702039,12477932,11256614,11230166,11076863,16169070 737633 84206 NM_032246,AC026956,CH471136,AB095929,AK094145,AK094633,AK131424,AL136778,AY950678,BC036211,BC111545,CR605617 NP_115622,EAW99090,BAC23105,BAD18571,CAB66712,AAY34146,AAH36211,AAI11546,Q6ZN04,CAL37893,CAL38674 Hs.104744 DKFZp434J0617|MEX-3B|MGC117199|RKHD3|RNF195 RING finger and KH domain-containing protein 3|RING finger protein 195|RNA-binding protein MEX3B|ring finger and KH domain containing 3 protein-coding 1319133 MEX3C mex-3 homolog C (C. elegans) 737633,1580863 17267406,17015768,16177791,15489334,14702039,12477932,20379614 737633 51320 BC041122,BC063244,BC153820,NM_016626,AC090330,CH471096,AF208855,AK096190,AL833519,AW079942,AY950679,BC032952,NG_015801 AAH41122,AAI53821,Q5U5Q3,AAI46417,AAI48856,NP_057710,EAW62989,AAF64269,BAG53227,AAY34147 Hs.465144 BM-013|FLJ38871|MEX-3C|RKHD2|RNF194 RING finger and KH domain-containing protein 2|RING finger protein 194|RNA-binding protein MEX3C|ring finger and KH domain containing 2 protein-coding 1321562 MEX3D mex-3 homolog D (C. elegans) 17267406,15489334,14769789,12477932 399664 NM_001174118,NM_203304,AC005943,AC027307,CH471139,AB062435,AB107353,AF458084,AY950680,BC113384,BC113741,CB218195,CB218196,DQ225272,DQ225273 NP_001167589,NP_976049,EAW69483,BAB93498,BAC67658,AAQ04763,AAY34148,AAI13385,AAI13742,ABB04031,ABB04032,Q38IJ5,Q38IJ6,Q86XN8,Q8NI85 Hs.436495 KIAA2031|MEX-3D|MEX3|OK/SW-cl.4|RKHD1|RNF193|TINO RING finger and KH domain-containing protein 1|RING finger protein 193|RNA-binding protein MEX3D|bcl-2 ARE RNA binding protein|ring finger (C3HC4 type) and KH domain containing 1|ring finger and KH domain containing 1 protein-coding 1346735 MF4 metacarpal 4-5 fusion 4235 1321226 MFAP1 microfibrillar-associated protein 1 1580863 1374398,17081983,16565220,15345747,15324660,15302935,12477932,7835894,11799066,19913121,20628086 4236 NM_005926,AC018512,CH471082,AK312867,BC023557,BC050742,BF981568,CR600815,CR603002,U04209 NP_005917,EAW77247,BAG35719,AAH23557,AAH50742,AAA92786,P55081,ABM84315,ABM87708 Hs.61418 microfibrillar-associated protein 1 protein-coding 1314413 MFAP2 microfibrillar-associated protein 2 Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 9278443,19182256,17692555,16710414,16492672,15489334,15233806,15044481,12878157,12477932,11796718,11723132,11481325,11284693,10664011,9373149,8761465,8125298,7759096,3015971,20881960 4237 CR590231,CR597163,CR619798,CR619947,DN996554,U19718,NM_017459,NM_001135247,NM_002403,NM_001135248,AJ009948,AL049569,CH471134,U19719,AK222751,AK301655,AU280150,BC015039,BC028033,CR407678 AAA79920,P55001,Q5JXY0,ABM86468,ABW03655,CAG28606,NP_059453,NP_001128719,NP_002394,NP_001128720,CAB96824,CAI20368,EAW94818,EAW94819,EAW94820,EAW94821,EAW94822,EAW94823,BAD96471,BAH13532,AAH15039 Hs.389137 FLJ50901|MAGP|MAGP-1|MAGP1 MFAP-2|microfibril-associated glycoprotein 1|microfibrillar-associated protein 2 protein-coding 1350797 MFAP3 microfibrillar-associated protein 3 1580863 15489334,14702039,12477932,7782085,19913121,20628086 4238 NR_024152,NM_005927,NM_001135037,AC010232,AC022088,CH471062,L35251,AK000358,AK296468,AK315573,AL037715,AL049404,BC026244,CB994356 NP_005918,NP_001128509,EAW61645,AAC41753,BAA91108,BAG59113,BAG37947,AAH26244,P55082,ABM82905,ABM86096 Hs.432818 DKFZp586F0219 OTTHUMP00000160644|microfibril-associated glycoprotein 3 protein-coding 1322643 MFAP3L microfibrillar-associated protein 3-like 737633,1580863 15489334,12477932,9734811 737633 9848 NM_021647,NM_001009554,AC084866,CH471056,AB014526,AF327560,AK290041,AK308263,AW015769,AY391838,BC001279,BC066912,BM552945 NP_067679,NP_001009554,AAY41028,AAY41029,EAX04773,EAX04774,EAX04775,BAA31601,AAK15700,BAF82730,AAS55434,AAH01279,AAH66912,O75121 Hs.593942 NYD-sp9 OTTHUMP00000219390|OTTHUMP00000219393|OTTHUMP00000219394|microfibrillar-associated protein 3-like|testis development protein NYD-SP9 protein-coding 1317270 MFAP4 microfibrillar-associated protein 4 This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. [provided by RefSeq] 1580863 15342556,7633408,17539903,16867155,16335952,15489334,15340161,12477932,10542261,17207965,20628624 4239 BP371800,NM_001198695,CR605610,CR610875,CR611587,CR613174,CR617970,CR620310,CR620840,CR621699,CR625505,L38486,NM_002404,AC124066,CH471212,CS208039,AK293056,AK304528,BC035560,BC047725,BC062415,BI765707,BQ017631,CR592740,CR594997,CR595863,CR597747,CR598399,CR599644,CR599684,CR599896,CR604299,CR604850,NG_027952,HB867224 NP_001185624,AAB00968,P55083,NP_002395,EAW50888,EAW50889,EAW50890,CAJ44945,BAF85745,BAG65329,AAH62415,ADQ31952,CBF57598 Hs.296049 OTTHUMP00000065920|microfibril-associated glycoprotein 4 protein-coding 1317391 MFAP5 microfibrillar associated protein 5 This gene encodes a 25-kD microfibril-associated glycoprotein which is rich in serine and threonine residues. It lacks a hydrophobic carboxyl terminus and proline-, glutamine-, and tyrosine-rich regions, which are characteristics of a related 31-kDa microfibril-associated glycoprotein (MFAP2). The close similarity between these two proteins is confined to a central region of 60 aa where precise alignment of 7 cysteine residues occurs. The structural differences suggest that this encoded protein has some functions that are distinct from those of MFAP2. [provided by RefSeq] 1580863 8557636,18417156,16492672,15489334,12878157,12477932,12122015,9792630,8889548,19962670 8076 NM_003480,AC092184,AC092490,AF084918,AF084919,AF084920,AF084921,AF084922,AF084923,AF084924,AF084925,AF084926,AF084927,CH471116,AK124368,AK290585,AK299475,AK315807,AL833019,AU280458,AY339060,BC005901,BM678444,CR603417,CR605401,CR609578,CR619112,U37283 BAF98698,NP_003471,AAC83942,EAW88613,EAW88614,BAG54032,BAF83274,BAG61439,AAQ18021,AAH05901,AAA96752,Q13361,Q7Z490,ACE87011 Hs.512842 MAGP2|MP25 MAGP-2|MFAP-5|microfibril-associated glycoprotein 2|microfibril-associated glycoprotein-2|microfibrillar-associated protein 5 protein-coding 1321011 MFF mitochondrial fission factor 18353969,12477932,18029348 56947 NM_020194,AC097662,AF226049,AF246239,AF258660,AK026137,AL833032,BC000797,BC093024,CR593325,CR604101,CR605975,CR610466,CR625753,CH471063,CR619534 NP_064579,AAY24252,EAW70860,EAW70861,EAW70862,EAW70863,EAW70864,EAW70865,EAW70866,EAW70867,EAW70868,EAW70869,AAF86949,AAG44486,AAG44658,BAB15373,CAH56328,AAH00797,AAH93024,EAW70859,Q9GZY8 Hs.471528 C2orf33|DKFZp666J168|GL004|MGC110913 OTTHUMP00000164235|OTTHUMP00000203989|mitochondrial fission factor|mitochondrial fission factor homolog B protein-coding 736002 MFGE8 milk fat globule-EGF factor 8 protein 1582497,1580863 8639264,18029348,19502262,19443842,19204935,19196164,18974133,18647368,18303131,18160406,17906662,17679143,17637751,17420351,16344560,16115445,15478463,14702039,14561811,12670504,12477932,12000961,11856354,11787681,10411933,9773837,9643686,9546740,9535276,9373149,9260929,9101712,9027496,8889548,8125298,1909932,18990388,19834535,20213738 1582497 4240 NM_001114614,NM_005928,AC067805,CH471101,AK095908,AK222735,AK223182,AK304627,AK310357,AK312640,AU134066,AY141974,BC003610,BT006948,BU726667,BX537974,CR590960,CR591207,CR592072,CR592357,CR595108,CR603150,CR609258,CR622104,CR624080,CR624954,S56151,U58516,Y11718 NP_001108086,NP_005919,EAX02025,EAX02026,EAX02027,EAX02028,EAX02029,EAX02030,BAG53164,BAD96455,BAD96902,BAG65408,BAG35524,AAN08508,AAH03610,AAP35594,CAD97938,AAB19771,AAC50549,CAA72405,P78328,Q08431,ACE87761,ACE87081 Hs.3745 BA46|EDIL1|HsT19888|MFG-E8|OAcGD3S|SED1|SPAG10|hP47 HMFG|MFGM|O-acetyl disialoganglioside synthase|breast epithelial antigen BA46|lactadherin|medin|sperm associated antigen 10|sperm surface protein hP47 protein-coding 1318798 MFHAS1 malignant fibrous histiocytoma amplified sequence 1 Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq] 1599928,1580863 18846501,16094384,14702039,14691450,12477932,9973190,20379614,20734064 1599928 9258 NM_004225,NG_009444,AC090567,CH471157,AB016816,AK027007,AK096504,BC014226,CR625839 NP_004216,EAW65566,BAA74737,AAH14226,Q9Y4C4,AAI67810 Hs.379414 FLJ23354|LRRC65|MASL1 MFH-amplified sequences with leucine-rich tandem repeats 1|leucine rich repeat containing 65|malignant fibrous histiocytoma-amplified sequence 1|malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1 protein-coding 1317764 MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq] 1580863 3010712,19815549,12860420,12809550,12750156,12710945,12477932,12230555,11852110,11337467,10737800,10691965,9176405,8705293,8300636,7556058,6843660,3754536,2419904,18691669,17570828,17452986,17449903,17227112,17196552,16713448,16704991,16449195,16449192,16449191,15716025,15489334,14702039,2540389,2463331,1633859,1544447 4241 AA442552,BC034933,BC068085,BC082761,NM_005929,NM_033316,AC068302,CH471191,AK096182,AU099352,AW083943,BC001875,BC002623,BC007550,BC032752,BC053510,BC071910,BC093920,BC111947,BC143257,BQ332373,BT007377,CR601211,M12154,A00127 NP_005920,NP_201573,EAW53616,EAW53617,AAH01875,AAH02623,AAH07550,AAH71910,AAH93920,AAI11948,AAP36041,AAA59992,P08582,Q53XS6,CAA00012,AAI52833 Hs.184727,Hs.727305 CD228|FLJ38863|MAP97|MGC4856|MTF1 melanoma-associated antigen p97, isoform 2|melanotransferrin|membrane-bound transferrin-like protein protein-coding 731663 MFN1 mitofusin 1 The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq] 18832378,17718388,15961417,15509649,15489334,14702039,12759376,12477932,12475957,11950885,11751411,11181170,9230308,20661427,9110174,8619474,8358434,19168699,19754948,20103533,20339081,20877624 55669 AC007620,AC007823,CH471052,AB043588,AB043589,AF054986,AF329637,AI656503,AK000700,AK314306,BC020661,BC040557,CR627379,U95822,NM_033540 NP_284941,EAW78406,EAW78407,EAW78408,EAW78409,EAW78410,EAW78411,EAW78412,BAE16564,BAE16565,AAC09347,AAK06840,BAA91327,BAG36958,AAH20661,AAH40557,CAH10476,AAB64220,Q05CV7,Q4AEJ3,Q4AEJ4,Q6AI38,Q8IWA4,ACE87665,ACE86976 Hs.478383 DKFZp762F247|FLJ20693|MGC41806|hfzo1|hfzo2 OTTHUMP00000212066|OTTHUMP00000212067|fzo homolog|mitochondrial transmembrane GTPase FZO-2|mitochondrial transmembrane GTPase Fzo-1|mitofusin-1|putative transmembrane GTPase|transmembrane GTPase MFN1 protein-coding 732569 MFN2 mitofusin 2 This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq] 1601409,1601408,1580863 20819609,20514460,11181170,15322553,19052620,18974884,18957892,18946002,18490623,18480994,18458227,18425620,18336293,18316077,18092941,17940179,17874344,17828388,17718388,17537722,17437620,17309650,17215403,16762064,16710414,16437557,16160866,16123358,16087932,16083859,16043786,15961417,15878861,15829499,15549395,15489334,15382611,15064763,14702039,12759376,12598526,12499352,12477932,11950885,9039502,19889647,20530328,16936636,17697539,19168699,19427854,19618221,19690333,19754948,19812251,20008656,20032281,20163430,20193559,20335458,20339081,20350294,20418531,20580691,20587496,20877624,20940517,20804729 1601409,1601408 9927 NM_014874,NM_001127660,NG_007945,AL096840,CH471130,AF036536,AI857365,AK001189,AK021947,AK022453,AK289828,AK295890,AL122114,AL137666,AY028429,BC017061,BU178912,D86987,DC401346 NP_055689,NP_001121132,CAI19086,CAI19087,CAI19088,EAW71726,EAW71727,AAD02058,BAG50864,BAG51062,BAG51075,BAF82517,BAH12214,CAB70866,AAK18728,AAH17061,BAA34389,O95140,Q5JXC5,ABM85107,ABW03721 Hs.376681 CMT2A|CMT2A2|CPRP1|HSG|KIAA0214|MARF hyperplasia suppressor|mitochondrial assembly regulatory factor|mitofusin-2|transmembrane GTPase MFN2 1643585 SGHRL1_H protein-coding 1349900 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene is a member of the fringe gene family which also includes Radical and Lunatic fringe. They all encode evolutionarily conserved secreted proteins that act in the Notch receptor pathway to demarcate boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta1,3 N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. [provided by RefSeq] 1302739,2302204,1580863 9207795,9187150,15489334,15461802,15280477,12486116,12477932,12036964,11978185,11346656,10935626,10640833,10591208,10341080,9878264,16344560,20237496 1302739,2302204 4242 NM_002405,CH471095,Z93096,AK292123,AK297149,AK297833,AK316555,BC094814,CR456518,CR594059,CR604551,CR605939,CR611297,U94352,AI363008,BM457814,DA815501,NM_001166343,NR_029413 NP_002396,EAW60161,EAW60162,CAB07511,BAF84812,BAG59648,BAG60167,BAG65633,AAH94814,CAG30404,AAC51358,O00587,CAK54549,CAK54848,NP_001159815 Hs.517603 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase|beta-1,3-N-acetylglucosaminyltransferase manic fringe|manic fringe homolog (drosophila) protein-coding 1316695 MFRP membrane frizzled-related protein This gene encodes a member of the frizzled-related proteins. The encoded protein may play a role in eye development, as mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic mRNA, which also encodes C1q and tumor necrosis factor related protein 5. 11263980,19169412,18781223,18648522,18554571,18363166,18334955,17167404,16442268,16352475,16123441,16123440,15976030,12944416,12477932,14702039,19753314,20361016 83552 NM_031433,NG_009626,NG_012235,AP003396,CH471065,EF444994,AB055505,AJ862823,AK055132,AK295203,AL110261,BC029485,BC036675 NP_113621,EAW67483,ACA06013,ACA06015,BAB39771,CAH93521,BAB70859,BAG58200,Q9BY79,AAI60191 Hs.632102 DKFZp586B0621|FLJ30570|MCOP5|MGC32938|NNO2|RD6 membrane frizzled-related protein|membrane-type frizzled-related protein protein-coding 1346472 MFSD1 major facilitator superfamily domain containing 1 737633,1580863 8889548,15489334,14702039,12477932 737633 64747 BU608918,NM_001167903,NM_022736,AC080013,AC128694,CH471052,AB014732,AF351617,AK023478,AK024215,AK294628,AK297034,AK297593,AK300497,AK301680,BC017661,BC030542,BC042197,CR603081,CR612957 NP_001161375,NP_073573,EAW78672,EAW78673,EAW78674,BAB20269,AAN76517,BAB14852,BAG57809,BAG59562,BAG59980,BAG62211,BAG63153,AAH30542,AAH42197,Q9H3U5 Hs.58663 FLJ14153|SMAP4|UG0581B09 SMAP-4|major facilitator superfamily domain-containing protein 1|smooth muscle cell-associated protein 4 protein-coding 1604055 MFSD10 major facilitator superfamily domain containing 10 This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq] 8353488,18638446,17362938,15146197,12477932 10227 NM_001146069,AL390065,CH471131,BC001502,BC014979,BC023537,BI769550,BX359190,CN422014,CR592738,CR594805,CR595403,CR599208,CR599486,CR600857,CR601259,CR607301,CR607704,CR609779,CR610651,CR614036,CR615910,CR617179,CR617483,CR617484,CR622686,CR624236,CR624960,CR626767,L11669,NM_001120 NP_001111,NP_001139541,CAM21300,EAW82496,EAW82497,AAH01502,AAH14979,AAA36729,Q14728,ABW03844,ABW03540 Hs.632581 TETRAN|TETTRAN OTTHUMP00000216849|OTTHUMP00000216851|OTTHUMP00000216930|major facilitator superfamily domain-containing protein 10|tetracycline transporter-like protein protein-coding 1603960 MFSD11 major facilitator superfamily domain containing 11 12477932,9358160 79157 NM_024311,AC005837,AC027694,CH471099,AF015183,AF015184,AF015185,AF015186,AF015187,AF015188,AF015189,AF015190,AK000233,AK025849,AK308058,BC002753,BC062563 NP_077287,EAW89449,EAW89450,EAW89451,EAW89452,EAW89453,EAW89454,AAB92495,AAB92496,AAB92497,BAA91025,AAH02753,AAH62563,O43934,ABM87232 Hs.73965 ET|FLJ20226|FLJ22196 UNC93-like protein MFSD11|major facilitator superfamily domain-containing protein 11|protein ET protein-coding 1606200 MFSD2 major facilitator superfamily domain containing 2 18988732,17145094,16710414,16303743,15498874,15489334,15221005,14702039,12975309,12477932,18694395,20236515 84879 NM_001136493,NM_032793,AL663070,CH471059,CQ783264,AB073383,AF289609,AF370364,AF370393,AK027396,AK074186,AK075183,AK093223,AK291540,AK297991,AK301533,AL834184,AY358636,BC006353,BC011587,BC092414,CR598887,CR608085,CR611403,CR621139,CR621487,DC297497 NP_001129965,CAI20267,NP_116182,CAI20268,CAI20269,EAX07246,EAX07247,EAX07248,EAX07249,CAF86469,BAD38634,AAL55793,AAQ15200,AAQ15229,BAC11456,BAC04100,BAF84229,BAG60299,BAG63034,AAQ88999,AAH06353,AAH11587,AAH92414,Q5SSK0,Q71RE4,Q8NA29 Hs.655177 FLJ14490|FLJ35904|FP1147|HMFN0656|MFSD2|PP10484|RP3-342P20.1 major facilitator superfamily domain containing 2|major facilitator superfamily domain-containing protein 2A protein-coding 3476989 MFSD2B major facilitator superfamily domain containing 2B 12477932,18694395,19197348 388931 AC104665,BC033385,BX647146,NM_001080473 A6NFX1,NP_001073942 Hs.407482 major facilitator superfamily domain containing 2B|major facilitator superfamily domain-containing protein 2B|major facilitator superfamily domain-containing protein 2b protein-coding 1605597 MFSD3 major facilitator superfamily domain containing 3 16189514,15489334,12477932 113655 NM_138431,AC084125,CH471162,BC011982,CR591691,CR598690,CR603323,CR606243,CR613403,CR615104,CR616596,CR620962,CR622519,CR623012 NP_612440,EAW82072,EAW82073,EAW82074,EAW82075,EAW82076,AAH11982,Q96ES6 Hs.7678 major facilitator superfamily domain-containing protein 3 protein-coding 1605282 MFSD4 major facilitator superfamily domain containing 4 15489334,14702039,12975309,12477932 148808 NM_181644,AC096533,CH471067,AK057733,AK090831,AK091896,AK127321,AL713676,AY358107,BC016377,BC036549,CR599236,DC317463,AK293816,AK295148,AK304109,AK304120 NP_857595,EAW91564,EAW91565,EAW91566,EAW91567,EAW91568,EAW91569,BAC03767,CAD28481,AAQ88474,AAH16377,AAH36549,Q8N468,Q96KX6,BAH11603,BAH11991,BAH14106,BAH14109 Hs.567714 DKFZp564C1416|DKFZp761N1114|FLJ25004|FLJ34577|FLJ45392|UNQ3064 major facilitator superfamily domain-containing protein 4 protein-coding 1605912 MFSD5 major facilitator superfamily domain containing 5 16303743,15489334,14702039,12975309,12477932,9373149,8125298,17207965,16344560 84975 NM_032889,AC021072,CH471054,CQ782634,AK074684,AK097576,AK225998,AY358604,BC007703,BC067795,BX640649,DA428788,DA565785,DA695979,NM_001170790 ADQ31809,NP_116278,EAW96679,EAW96680,CAF85892,BAC11137,BAC05108,AAQ88967,AAH07703,AAH67795,CAE45795,Q6N075,NP_001164261 Hs.654660 MGC11308 major facilitator superfamily domain-containing protein 5 protein-coding 1603217 MFSD6 major facilitator superfamily domain containing 6 12477932,9373149,8125298,14702039,19401682,20123006,20379614,20978832 54842 NM_017694,AC092178,AC093388,CH471058,AK000167,AK021420,AK098085,AK127176,AK225240,AK302647,AK302753,BC039058,BC050537,BC062757,AB472299 NP_060164,AAY24173,EAX10867,EAX10868,BAA90987,BAC86869,BAH13768,BAH13796,Q6ZSS7,AAH50537,BAI82196 Hs.418581,Hs.725488 FLJ20160|MMR2|hMMR2 OTTHUMP00000163510|OTTHUMP00000205546|OTTHUMP00000205548|macrophage MHC class I receptor 2 homolog|macrophage MHC receptor 2|major facilitator superfamily domain-containing protein 6 protein-coding 1603890 MFSD6L major facilitator superfamily domain containing 6-like 14702039,12477932,20379614 162387 NM_152599,AC009451,CH471108,AK093092,AY129026,BC040487,BM986935 NP_689812,EAW90042,BAC04050,AAM98769,AAH40487,Q8IWD5 Hs.213603 FLJ35773 major facilitator superfamily domain-containing protein 6-like protein-coding 1604571 MFSD7 major facilitator superfamily domain containing 7 15498874,15489334,14702039,12975309,12477932 84179 NM_032219,AC107464,CH471131,AK025922,CR609503,CR626001,AK292010,AY203936,AY358401,BC030246,CR600243 NP_115595,EAW82658,EAW82659,BAB15283,Q6UXD7,BAF84699,AAP34459,AAQ88767,AAH30246 Hs.567612 FLJ22269|LP2561 MYL5|OTTHUMP00000217194|OTTHUMP00000217197|major facilitator superfamily domain-containing protein 7|myosin light polypeptide 5 regulatory protein protein-coding 1606119 MFSD8 major facilitator superfamily domain containing 8 This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq] 19201763,19177532,18850119,17564970,16344560,16303743,15146197,12477932,11589000,10191125,19277732 256471 NM_152778,NG_008657,AC099340,CH471056,AA242881,AK074564,AK294184,AK294439,AK294527,AK294957,AK315596,BC029503,BI553701,BQ015234,CB956202,CN310788,CX873070,DA481070 NP_689991,EAX05193,EAX05194,EAX05195,BAC11062,BAH11691,BAH11766,BAH11798,BAH11934,BAG37968,AAH29503,Q8NHS3 Hs.480701 CLN7|MGC33302 OTTHUMP00000219818|ceroid-lipofuscinosis neuronal protein 7|ceroid-lipofuscinosis, neuronal 7, late infantile|major facilitator superfamily domain-containing protein 8 protein-coding 1606209 MFSD9 major facilitator superfamily domain containing 9 16303743,12477932,16344560 84804 AK075376,AK290589,AK307178,BC006242,BC009310,CR599593,NM_032718,AC007239,AC007251,CH471127,CS051423,AK296768,DB316151,DC344851 CAI72206,BAC11577,BAF83278,AAH06242,AAH09310,Q8NBP5,NP_116107,AAX88847,AAY14910,EAX01787,BAG59348 Hs.720914 MGC11332 major facilitator superfamily domain-containing protein 9 protein-coding 1351170 MGA MAX gene associated 1580863 14702039,12477932,10601024,9628581,12748276,20936779,15960975 23269 NM_001080541,AC016134,AC073657,AB011090,AK022696,AK023360,AK025751,AK055203,AK056470,AK301207,AL050181,AL713737,BC007584,BC016982,BC038449,BC136659,BX648098,AA188751,AI434570,BQ937819,BX643019,DC391039,DR001080,NM_001164273 NP_001074010,BAA25444,BAB14186,BAB14543,BAB15232,BAG62783,CAB43310,AAH38449,AAI36660,Q8IWI9,Q9H6M4,NP_001157745 Hs.187569 FLJ12634|KIAA0518|MAD5|MXD5 MAX dimerization protein 5|MAX gene-associated protein protein-coding 1318097 MGAM maltase-glucoamylase (alpha-glucosidase) This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq] 1580863 9446624,19472353,18377903,18036614,17485087,12853948,12547908,12477932,3143729,3121301,16052631,20356844,19913121,20628086 8972 NM_004668,AC073647,AC091684,AC091742,AF432186,AF432202,CH236950,CH471070,AF016833,BC120872 EAW83988,NP_004659,AAS07445,AAP21875,AAL83559,AAL83560,EAW83989,AAC39568,AAI20873,O43451,Q8TE24,Q8TE25 Hs.122785 MG|MGA OTTHUMP00000213038|OTTHUMP00000213066|alpha-glucosidase|brush border hydrolase|maltase-glucoamylase, intestinal protein-coding 1349279 MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19219857,19197348,19851299,1702225,16344560,16303743,15489334,15231748,15146197,14702039,17716624,12477932,12077311,9020882,7635144,1827260,1421759,19826906 4245 NM_001114617,NM_001114618,NM_001114620,NM_001114619,NM_002406,AC022413,CH471165,L77081,M61829,AB209239,AF289558,AK057194,AK075429,AK090523,AK092256,AK094130,AK290769,BC003575,BG337235,CA426780,CN409895,CR456861,DB270226,DC383950,M55621 NP_001108089,NP_001108090,NP_001108092,NP_001108091,NP_002397,EAW53739,EAW53740,EAW53741,EAW53742,EAW53743,EAW53744,EAW53745,AAA75523,BAD92476,AAL55742,BAG51880,BAC11616,BAG52177,BAG52510,BAG52821,BAF83458,AAH03575,CAG33142,AAA52563,P26572,Q59G70,Q8NBL8,Q8WZ34,ABM83429,ABM86642 Hs.519818 GLCNAC-TI|GLCT1|GLYT1|GNT-1|GNT-I|MGAT N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I|OTTHUMP00000161546|OTTHUMP00000221739|OTTHUMP00000221740|OTTHUMP00000221750|OTTHUMP00000221751|OTTHUMP00000221752|OTTHUMP00000221753|OTTHUMP00000221754|OTTHUMP00000221755|OTTHUMP00000221756|alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase|glcNAc-T I protein-coding 731495 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq] 1581206,1599932,1599930,1580863 3099781,7635144,7797505,16303743,15489334,14702039,12621063,12477932,11805078,11228641,9579808,8808595,8892864,8218172,2829950,2649653,2542563,2355006,2283726,12560567,8093218,3264072,11530211,1736542,9109416,8673525,2541446,2187500,20378551 1581206,1599932,1599930 4247 NM_002408,NG_008920,AL139099,CH471078,U15128,AK056167,AK075051,AK075199,AK293231,BC006390,BC018912,BI764270,BQ023756,CS410226 NP_002399,EAW65758,AAA86956,BAG51637,BAG52082,BAG56770,AAH06390,Q10469,ABM83639,ABM87858,CAL47688 Hs.93338 CDG2A|CDGS2|GLCNACTII|GNT-II|GNT2 Beta-1,2-N-acetylglucosaminyltransferase II|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II|UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II|alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase|glcNAc-T II|mannoside acetylglucosaminyltransferase 2 protein-coding 1343088 MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 19403558,19776078,20089585,8370666,19276077,17652175,16344560,15489334,15461802,14998999,12716887,12477932,12427758,11768033,11011143,10591208,8889548,8706690,8666260,14623284 4248 NM_001098270,AL022312,CH471095,D85377,D85378,D85379,AK125361,AK313664,BC075025,BC075026,BC113383,BC113718,BG683192,BM675328,CR456519,D13789,DA261678,DA370485,DA519457,L48489,NM_002409 Q6LEM7,NP_002400,NP_001091740,CAI19177,CAQ08284,CAQ08285,EAW60332,BAA19868,BAG36416,AAH75025,AAH75026,AAI13384,AAI13719,CAG30405,BAA02937,Q09327,CAK54550,CAK54849,ADR83204 Hs.276808 FLJ43371|GNT-III|GNT3|MGC141943|MGC142278 GlcNAc-T III|N-acetylglucosaminyltransferase III|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III|OTTHUMP00000199142|beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase protein-coding 1313803 MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq] 1580863,2317701 2187500,10024668,17953760,17488527,17006639,16434023,15688387,14702039,12477932,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,19751437 2317701 11320 NM_012214,NM_001160154,AB053222,AC064860,AC109826,CH471127,AB000616,AK092952,AK128366,AK291533,AK304393,AK309852,AK314024,AW138839,BC127107,BC127108,CR610346,CR611133 NP_036346,NP_001153626,BAC55023,AAY14976,AAY24092,EAX01896,EAX01897,EAX01898,BAA86388,BAF84222,BAG65228,AAI27108,AAI27109,Q9UM21 Hs.177576 GNT-IV|GNT-IVA N-acetylglucosaminyltransferase IVa|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa|OTTHUMP00000161122|OTTHUMP00000203150|UDP-GlcNAc:a-1,3-D-mannoside b-1,4-acetylglucosaminyltransferase IV|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa|UDP-N-acetylglucosamine:alpha1,3-d-mannoside beta1,4-N-acetylglucosaminyltransferase|alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A|alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase|glcNAc-T IVa|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A protein-coding 1602226 MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq] 19913121,20628086,10372966,17488527,17006639,16434023,15146197,14702039,12975309,12477932,9373149,8125298,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,16169070 11282 NM_014275,NM_054013,AC008393,CH471165,AB000624,AK023137,AK225490,AK225492,AL162067,AL537522,AY358984,BC009464,BC051835,BQ882570,BQ939735,CN369872 NP_055090,NP_463459,EAW53788,EAW53789,EAW53790,EAW53791,EAW53792,EAW53793,EAW53794,EAW53795,BAA83464,BAG51162,CAB82404,AAQ89343,AAH09464,AAH51835,Q9UQ53 Hs.567419 GNT-IV|GNT-IVB N-acetylglucosaminyltransferase IVb|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVb|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVb|alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B|alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase|aminyltransferase|glcNAc-T IVb|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B protein-coding 1604033 MGAT4C mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 19240061,16344560,14702039,12477932,10570912,5701727,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,20379614 25834 BI667691,AB024911,AC010196,AC016993,AC025157,AC079596,AC079865,AC087887,AC093122,AC128681,AC139663,AC139697,CH471054,AK127727,AK299253,BC026068,BC035851,BC064141,NM_013244,DA795621 NP_037376,BAA83087,EAW97402,BAG54560,BAG61284,AAH26068,AAH64141,Q9UBM8 Hs.589093 GNTIVH|HGNT-IV-H N-acetylglucosaminyltransferase IV homolog|N-acetylglucosaminyltransferase IVc|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc|UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV|UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog|alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C|glcNAc-T IVc|gnT-IVc protein-coding 737363 MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase This gene encodes mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, a glycosyltransferase involved in the synthesis of protein-bound and lipid-bound oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the encoded protein's activity may correlate with the progression of invasive malignancies. [provided by RefSeq] 1580863 8292036,19236842,19225046,18931531,18845630,18649738,17971775,17878270,17488527,17451637,16924681,16638859,16467879,15809094,15313475,15044007,15014031,11872751,11864986,10700233,10580127,10395745,9235963,19403558,19787216,19846580,19910543,19911372,20089585,20117844,20468071 4249 NM_002410,AC013276,AC013718,AC016906,AF004882,CH471058,AF113921,D17716 NP_002401,AAY14747,AAX93248,AAY14791,AAB81939,EAX11657,EAX11658,AAD22449,BAA04570,Q09328,Q53SM9,Q53SV8,Q53SZ9,Q71VM6,AAI56314,AAI57049 Hs.651869 GNT-V|GNT-VA N-acetylglucosaminyl-transferase V|OTTHUMP00000162459|alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A|alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase|glcNAc-T V|mannoside acetylglucosaminyltransferase 5|n-acetylglucosaminyltransferase v protein-coding 1313067 MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM] 18838383,16857188,16606368,16413118,14623122,14617637,14561752,12941944,12477932,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2541446,2187500,19913121,20628086,19846580,20379614 146664 NM_144677,NM_198955,AC016168,CH471099,AB109185,AB114297,AB235153,AK123189,AW191036,BC036948,BC041577,BC062354,BC063862,BC144361,NM_001199172 NP_653278,NP_945193,EAW89457,EAW89458,EAW89459,EAW89460,BAC84969,BAD02406,BAE44474,AAH62354,AAH63862,Q3V5L5,AAI56824,NP_001186101 Hs.144531 FLJ25132|GnT-IX|GnT-VB|KIAA2008 N-acetylglucosaminyl-transferase Vb|N-acetylglucosaminyltransferase IX|alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B|alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B|beta(1,6)-N-acetylglucosaminyltransferase V|glcNAc-T Vb|hGnTVb|mannoside acetylglucosaminyltransferase 5B|mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B protein-coding 1345530 MGC1 megalocornea 1 (X-linked) 4251 1606877 MGC12965 similar to Cytochrome c, somatic 12477932 374408 Q8TB74 NM_198519,AP001372,CH471076,BC019340,BX647206 NP_940921,EAW74941,AAH19340,Q8TB74 Hs.662812 protein-coding 1603001 MGC16121 hypothetical protein MGC16121 15146197,12477932 84848 NR_024607,AC004383,CH471107,AW378319,BC007360,BX090522,CN297454 EAX11759 Hs.416379 miscrna 1602661 MGC16703 tubulin, alpha pseudogene 15146197,14702039,12477932 113691 NR_003608,AC002472,CH471176,AK057257,AK315686,BC009991,BI668929,CN368433,CR622747 EAX02915,EAX02916 Hs.585006 pseudo 2290201 MGC21881 hypothetical locus MGC21881 16189514,14702039,12477932 389741 NR_015363,BX664615,AK092305,AK095690,AK127789,BC000869,BC015151,BC027338,BC040170,BC081570,BC019880 A6NN06 Hs.720777,Hs.727677 miscrna 1601943 MGC2408 hypothetical protein MGC2408 12477932 84291 BC005835,BC012449,BC069005,CR595932,NM_032331,AC061705,CH471052,CR620009 AAH05835,AAH12449,AAH69005,NP_115707,EAW78277,Q6NTG7,Q9BRZ8 Hs.146161 protein-coding 1604603 MGC2752 hypothetical LOC65996 12477932,11329013 65996 NR_026052,AC016629,CH471135,AA418278,AK000827,AK098293,AK311347,AL708489,BC000766,BC001952,BC025349,BC043401,BC065480,BC067232,BC098570,BC119702,BC119703,BG214270,CR590190,CR620356 EAW72619 Hs.541177 FLJ18389|MGC111383|MGC149628 miscrna 1605681 MGC29506 hypothetical protein MGC29506 14702039,12792799,12477932,11350957,11042152,11972030,19805154,19805157,21093319 51237 NM_016459,AC135457,AA837360,AF151024,AF338109,AK057549,AK292706,BC009931,BC021275,BU601458,GQ477350 NP_057543,AAF36110,AAK84085,BAG51934,BAF85395,AAH09931,AAH21275,Q8WU39,ABM83553,ABW03504,ACY74343 Hs.409563 FLJ32987|MGC29506|PACAP|pERp1 HSPC190|caspase-2 binding protein|plasma cell-induced ER protein 1|plasma cell-induced resident ER protein|plasma cell-induced resident endoplasmic reticulum protein|proapoptotic caspase adapter protein|proapoptotic caspase adaptor protein protein-coding 1601930 MGC35440 hypothetical protein MGC35440 12477932 147990 NM_153220,AC007773,AF533711,BC029162 NP_694952,AAQ09024,AAH29162,Q7Z4H5,Q8N6Q4 Hs.194392 protein-coding 1604515 MGC42105 serine/threonine-protein kinase NIM1 15733851,15489334,14702039,12477932 167359 NM_153361,AC106800,AC114947,CH471119,AK122985,BC036422 NP_699192,EAW56050,EAW56051,EAW56052,EAW56053,BAG53833,AAH36422,Q8IY84,ABM82568,ABM85757 Hs.25845 NIM1 OTTHUMP00000221636|serine/threonine-protein kinase NIM1 protein-coding 1606857 MGC44328 hypothetical gene supported by BC033985 12477932 440757 AL049646,CH471133,BC033985,NR_034167 EAX10248,AAH33985,Q8NEA0 Hs.120399 miscrna 1602067 MGC45438 hypothetical protein MGC45438 16303743,15197164,12975309,12477932,20578903 146556 AK300708,NM_152459,NM_001098514,AC026458,CH471112,CQ783348,AK075242,AY358483,BC033681,CF272639 BAG62387,NP_689672,NP_001091984,EAW85242,EAW85243,EAW85244,CAF86554,BAC11494,AAQ88847,AAH33681,Q6UX73 Hs.11782 MGC45438 OTTHUMP00000214789|OTTHUMP00000214790|OTTHUMP00000214791|hypothetical protein LOC146556 protein-coding 2304143 MGC45800 hypothetical LOC90768 19010793,16344560,15146197,14702039,12477932,20944657 90768 NR_027107,AC108142,CH471056,AK024300,BC033172,CN360795,DA736633 EAX04707,EAX04708,BAG51287 Hs.175465 miscrna 1602621 MGC50722 hypothetical MGC50722 12477932 399693 NM_203348,AK125773,BC031926,BC042107,FP326719 NP_976223,BAC86282,AAH31926,AAH42107,Q6ZUE3,Q8IVT4,Q8N5P7 Hs.530383 hypothetical protein LOC399693 protein-coding 1602946 MGC70870 C-terminal binding protein 2 pseudogene 16344560,14702039,12477932 403340 NR_003682,AC011841,AK092162,BC063803,BC106037,DA695335 BAC03819,Q8NAS8 Hs.572501 pseudo 1348393 MGCR meningioma chromosome region 4252 732641 MGEA5 meningioma expressed antigen 5 (hyaluronidase) The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM] 2305957,2311625 9811929,18641620,17546623,16517082,16505006,16356930,15489334,15485860,15345747,15302935,14702039,12477932,12359146,12168954,11788610,11341771,11148210,9734811,20863279,19913121,20628086,16169070,19423084,19615732,19715310,20198314,20673219 2305957,2311625 10724 NM_012215,NM_001142434,AC010789,CH471066,AB014579,AF036144,AF307332,AK002091,AK027008,AK302626,BC001343,BC014201,BC032591,BC039583,BC047877,BQ016159,DC353958 NP_036347,NP_001135906,EAW49741,EAW49742,EAW49743,EAW49744,BAA31654,AAD05385,AAG21428,BAG51014,BAG63869,AAH01343,AAH39583,AAH47877,O60502 Hs.500842 FLJ11229|FLJ23355|KIAA0679|MEA5|NCOAT|OGA O-GlcNAcase|bifunctional protein NCOAT|hyaluronidase in meningioma|meningioma-expressed antigen 5|nuclear cytoplasmic O-GlcNAcase and acetyltransferase protein-coding 734078 MGLL monoglyceride lipase Monoglyceride lipase (MGLL; EC 3.1.1.23) functions together with hormone-sensitive lipase (LIPE; MIM 151750) to hydrolyze intracellular triglyceride stores in adipocytes and other cells to fatty acids and glycerol. MGLL may also complement lipoprotein lipase (LPL; MIM 238600) in completing hydrolysis of monoglycerides resulting from degradation of lipoprotein triglycerides (Karlsson et al., 2001 [PubMed 11470505]).[supplied by OMIM] 1580863 9495531,19233690,19014633,18721756,18452279,17621164,16806233,15489334,14702039,12477932,11470505,9110174,8889548,8619474,16169070,20855465,19913121,20628086,20464001,19957260,19962385,20079333,20976246 11343 HB974099,HB974261,HD031509,HD031671,BG035493,BG249567,BM051374,BM669411,BX640777,CR456835,CR622559,EU660904,U67963,NM_007283,AC023593,AC117480,CH471052,AF131821,AI125141,AI379999,AJ270950,AK025983,AK026389,AK091314,AK093841,AK125135,AK304844,AK310874,AK315529,AL365376,AL833254,AY172950,BC000551,BC006230,BC047298,BC073823,BE302457,NM_001003794 CBG21711,CBG21792,CBV34969,CBV35050,CAE45873,CAG33116,ACD37712,AAB39616,Q2VYF8,Q6IBG9,Q99685,ABM82881,ABM86067,NP_001003794,NP_009214,EAW79329,EAW79330,EAW79331,CAC43316,BAG52334,BAH14267,BAG37910,AAO45694,AAH00551,AAH06230 Hs.277035 HU-K5|HUK5|MAGL|MGL lysophospholipase homolog|lysophospholipase-like|monoacylglycerol lipase|monoglyceride lipase protein-coding 735904 MGMT O-6-methylguanine-DNA methyltransferase 1580863,2317637,2317628,2317636,2317664,2317686,2317690,2317691,2316960,2317340,2317635,2317681,2317693,2317684,2317667,2317672,2317675,2317632,2317688,2317648,2317661,1599637,2317662 19740564,20428822,20682398,20682983,2188979,2405387,8434121,19617759,19544111,19536092,19513524,19451595,19356788,19339270,19309276,19274096,19237606,19179423,19164452,19161160,19148529,19124499,19116388,19107910,19100509,19061338,19060925,19056675,19056673,19052983,19027227,18997474,18992637,18990748,18973931,18952979,18830263,18830187,18812520,18803403,18712569,18708406,18676680,18616639,18584351,18580490,18556773,18555750,18546261,18516290,18509181,18467255,18445844,18400046,18386788,18353991,18349282,18270339,18268114,18240147,18204074,18199718,18192966,18156172,18091318,18089777,18086781,18028895,18006925,18004504,17965865,17957803,17938272,17898525,17721049,17712558,17700363,17691113,17666372,17652530,17621591,17597106,17569599,17547775,17523078,17500046,17493032,17487400,17482892,17479411,17451198,17352030,20091185,20465388,20179017,20552207,20947886,20232102,20589656,20470789,17285603,17276933,17234722,17219056,17192931,17164358,17158087,17138560,17040931,16996781,16844323,16791592,16788379,16777993,16733832,16633920,16609022,16533425,16517062,16436636,16385589,16373199,16369171,16285744,16284370,16226712,16203797,16195237,16174854,16094607,16038584,16030116,16030112,16030105,16014702,16007001,16000301,15964013,15943786,15915369,15885889,15831531,15809756,15809347,15802298,15800999,15799820,15785933,15735757,15657354,15489334,15455376,15455350,15332332,15327835,15309527,15302935,15254699,15225156,15221026,15140540,15041700,14669534,14647440,14614014,14522053,12963053,12896905,12883749,12849917,12727789,12720298,12624503,12592365,12549918,12503076,12483540,12477932,12469220,12402349,12185595,12170182,12119040,12087469,11980845,11956078,11911967,11872960,11802813,11719438,11564893,11548124,11062157,10747039,10667577,10606635,10585585,9494526,9363996,8612308,8573590,8472340,8324751,8202360,7954470,7893370,7766621,7756667,7678140,7614699,6690082,2947677,2394694,2359121,1985934,1635460,1547538,1423836,1387001,1384961,15765097,20451846,20457618,17342321,16385451,19019173,19019175,19079989,19170196,19224763,19305157,19589246,19589911,19625176,19656999,19667985,19692168,19695681,19724855,19734844,19741564,19773381,19787267,19789190,19789298,19805672,19807915,19809523,19826048,19834398,19856394,19857042,19860620,19861461,19892775,19901104,19902366,19954624,19956635,19996271,20026607,20044616,20044995,20061190,20096652,20150365,20150366,20150378,20150384,20167816,20206583,20214209,20223788,20232390,20305537,20378691,20379614,20412404,20453000,20496165,19832838,20354736,20202118,20372840,20309962,20731661,21075068,19913121,20131314,20192566,20627446,20628086,20644561,20650735,20708344,20817763,20167086 2317637,2317628,2317636,2317664,2317686,2317690,2317691,2316960,2317340,2317635,2317681,2317693,2317684,2317667,2317672,2317675,2317632,2317688,2317648,2317661,1599637,2317662 4255 NM_002412,AL157832,AL353725,AL355531,CH471066,S52068,AK293593,BC000824,BI520029,BT006714,CR599817,CR602497,CR618411,DC387686,M29971,M31767,M60761,X54228 NP_002403,CAH70060,CAH72190,EAW49166,EAW49167,AAD13867,BAG57059,AAH00824,AAP35360,AAA59596,AAA52317,AAA59594,CAA38137,P16455,Q6LDD1,ABM81649,ABM84827 Hs.501522 O6-MGMT 0-6-methylguanine-dna methyltransferase|6-O-methylguanine-DNA methyltransferase|O-6-methylguanine-DNA-alkyltransferase|O6-methylguanine-DNA methyltransferase|methylated-DNA--protein-cysteine methyltransferase|methylguanine-DNA methyltransferase protein-coding 737291 MGP matrix Gla protein 2293584,2293586,2293578,1582503,1582502,1600783,1582501,1582504,1582511,1580863 9916809,19453261,19352064,19327888,19190822,19151998,18971553,18841280,18401181,18369157,18286307,18222176,17890861,17848178,17724449,17670744,17643059,17509359,17014561,16973975,16735944,16392639,16210837,15982861,15864013,15744522,15489334,15280384,15045141,14963895,14587031,12721790,12477932,12207096,11741887,11684076,11073842,10737800,9610006,8061611,3387234,2394711,2216462,1939157,15607035,20133489,19350115,19661459,19712474,19730704,20452482,20479029,16712791,19913121,20628086,20673868,20368306 2293584,2293586,2293578,1582503,1582502,1600783,1582501,1582504,1582511 4256 NM_000900,AC007655,CH471094,DQ004248,M55270,AK312029,AW997681,AY542304,BC005272,BC070314,BC093078,BT006733,CB069816,CR450358,CR623037,M58549,N85639,X07362,X53331,NG_023331,BF699158,CB108937,NM_001190839 NP_000891,EAW96333,EAW96334,AAY16978,AAB53765,BAG34966,AAT08173,AAH05272,AAH70314,AAH93078,AAP35379,CAG29354,AAB53766,CAA30287,CAA37418,P08493,ABM83421,ABM86633,NP_001177768 Hs.365706 GIG36|MGLAP|NTI cell growth-inhibiting gene 36 protein|matrix Gla protein protein-coding 1353673 MGRN1 mahogunin, ring finger 1 Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM] 1580863,1641947 18029348,19524515,19320733,17229889,16344560,15489334,15146197,12477932,12438443,9628581,19549727,19690564,19737927,20379614 1641947 23295 NM_001142291,NM_001142289,NM_001142290,NM_015246,AC023830,CH471112,AB011116,AK299052,BC007627,BC014199,BC050389,CN314787,CR606461,DA118421,EF471397,EF471398 NP_001135763,NP_001135761,NP_001135762,NP_056061,EAW85279,EAW85280,EAW85281,EAW85282,BAA25470,BAG61124,AAH50389,ABO69623,ABO69624,O60291 Hs.526494 KIAA0544|RNF156 E3 ubiquitin-protein ligase MGRN1|RING finger protein 156|mahogunin RING finger protein 1|probable E3 ubiquitin-protein ligase MGRN1 protein-coding 737343 MGST1 microsomal glutathione S-transferase 1 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Four transcript variants of this gene encode one protein isoform. [provided by RefSeq] 1358122,1580863 7566098,3372534,19343046,17714764,17483957,16384981,15489334,15338373,14726533,12818425,12477932,11587073,11034337,10777602,10673221,10524215,10095775,8812420,7663172,2307478,1544849,12359356 1358122 4257 NM_145792,NM_020300,NM_145791,NM_145764,AC007528,AY368173,CH471094,U46498,U46499,U71213,AA314967,AK291148,AK309707,BC005923,BC056863,BT006982,CR407629,CR609242,CR618561,H49331,J03746,R86750 NP_665735,NP_064696,NP_665734,NP_665707,AAQ55111,EAW96362,EAW96363,EAW96364,EAW96365,EAW96366,EAW96367,EAW96368,EAW96369,AAC50711,AAB17184,BAF83837,AAH05923,AAP35628,CAG28557,AAA35934,P10620,Q6LET6 Hs.389700 GST12|MGC14525|MGST|MGST-I glutathione S-transferase 12|microsomal GST-1|microsomal GST-I|microsomal glutathione S-transferase 1 protein-coding 1322562 MGST2 microsomal glutathione S-transferase 2 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. [provided by RefSeq] 1358122,1580863 8703034,19343046,16773312,16498398,15489334,12477932,11322876,10673221,9302651,9278457,8889549,16169070,20379614,9092565 1358122 4258 NM_002413,AC108053,AC112236,AY341028,CH471056,AA122237,AK130948,AK307231,BC025416,CR407640,U77604,GN344085 NP_002404,AAP88934,EAX05111,EAX05112,EAX05113,AAH25416,CAG28568,AAC51768,Q99735,ABM84310,ABM87703,CAY55978 Hs.81874 FLJ27438|GST2|MGC14097|MGST-II OTTHUMP00000220226|microsomal GST-2|microsomal GST-II|microsomal glutathione S-transferase 2|truncated microsomal glutathione S-transferase 2 protein-coding 1314953 MGST3 microsomal glutathione S-transferase 3 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides. [provided by RefSeq] 1580863 16710414,15489334,12898215,12477932,10673221,9373149,8125298,16169070,19536175,20379614,9278457,19343046,19064610,17719568,21116278,17207965 4259 NM_004528,AL356441,AL451074,AY388493,CH471067,AF026977,AK223012,AK312103,BC000505,BC003034,BC005964,BI666647,CR450359,CR607567,CR621489,DQ185045 NP_004519,CAH72273,CAH74057,CAH74058,CAH74062,AAQ81301,EAW90752,EAW90753,EAW90754,EAW90755,EAW90756,EAW90757,AAB82609,BAD96732,BAG35039,AAH00505,AAH03034,AAH05964,CAG29355,ABD14425,O14880,Q2F833,Q53GB9,Q5VV87,Q5VV89,ADQ33187 Hs.191734 GST-III OTTHUMP00000032568|OTTHUMP00000032599|OTTHUMP00000032600|OTTHUMP00000197144|microsomal GST-3|microsomal GST-III|microsomal glutathione S-transferase 3|microsomal glutathione S-transferase III protein-coding 1344260 MHAC microhydranencephaly 53341 1350508 MHP2 migraine, hemiplegic 2 9403481 337931 1349036 MHS2 malignant hyperthermia susceptibility 2 1427885 4264 1352365 MHS4 malignant hyperthermia susceptibility 4 7887423 4265 1350823 MHS6 malignant hyperthermia susceptibility 6 9175745 4266 732144 MIA melanoma inhibitory activity 737744,1580863 8661134,8550608,19807924,19852767,7923218,19521988,18616526,18494554,18477894,18181974,17661202,17599744,17348447,16331256,15760338,15547763,15489334,15386421,15340161,15208686,15201995,15057037,12665595,12477932,12230496,12014625,11991352,11331761,11157741,20514540,20164682 737744 8190 NM_006533,AC020945,AC098779,CH471126,X84707,AK302147,BC005910,BQ681978,BT007044,BX280685,CR541648,X75450 NP_006524,EAW56997,EAW56998,EAW56999,CAA59195,BAG63518,AAH05910,AAP35693,CAG46449,CAA53203,Q16674 Hs.646364 CD-RAP cartilage derived retinoic acid sensitive protein|melanoma inhibitory activity protein|melanoma-derived growth regulatory protein protein-coding 1319985 MIA2 melanoma inhibitory activity 2 17881540,16381901,15489336,14702039,12586826,12477932,11230166,11076863 117153 NM_054024,AL132639,CH471078,AF390175,AK026057,AK314069,BC035981,BC130537,BC130563,BX495701,BX648228 NP_473365,EAW65818,EAW65819,AAL26990,BAB15339,BAG36770,AAH35981,AAI30538,AAI30564,Q6PIE7,Q96PC5,CAL38130,CAL38459,ADR83104 Hs.287694 FLJ22404 melanoma inhibitory activity protein 2 protein-coding 1605216 MIA3 melanoma inhibitory activity family, member 3 19955471,20379614,19269366,17726152,17044017,19336575,19198609,17786351,17634449,16344560,15183315,14702039,12975309,12477932,9039502,20694560,20738937,20971364 375056 AL592148,CH471100,CQ834356,AK025122,AK025506,AK026489,AK096526,AK290335,AK296712,AK307412,AY359091,BC031805,NM_198551,BP423646,CK724924,CR612005,CR613982,D87742,DA040423,DQ166034,L34688,BC047116 NP_940953,CAI40469,CAI40470,CAI40471,CAI40473,CAI40474,EAW93267,CAH05393,BAC04810,BAF83024,BAH12416,AAQ89449,AAH47116,BAA13448,AAZ95512,AAB00324,Q5JRA6 Hs.118474 ARNT|D320|FLJ21469|FLJ39207|KIAA0268|RP11-378J18.4|TANGO|TANGO1|UNQ6077 C219 reactive peptide|C219-reactive peptide|melanoma inhibitory activity protein 3|transport and Golgi organization protein 1 protein-coding 1606629 MIAT myocardial infarction associated transcript (non-protein coding) 17623775,17066261,14702039,16344560,8889548 440823 NR_003491,AB263414,AB263415,AB263416,AB263417,AK095686,AK098753,AK098833,AK127256,CR596668,CR620293,BM677447,DA213485,NG_016621,NR_033319,NR_033320,NR_033321,Z99774 Hs.517502 C22orf35|FLJ25887|FLJ25967|FLJ38367|FLJ45323|GOMAFU|NCRNA00066|RNCR2|Rncr2|gomafu miscrna 1316242 MIB1 mindbomb homolog 1 (Drosophila) 1580863,1334454 19531414,19082441,18798277,17324930,17003037,16857196,15489334,15048887,14702039,12530964,12477932,12351649,11812785,10718198,17390041,18029348,19167444,19710364,20018188,20353905,19690564,20442586,20819770 1334454 57534 NM_020774,AC091038,AC103987,CH471088,EF444995,AB037744,AF086463,AK027338,AK075157,AK091266,AL713705,AY147849,AY149908,BC022403,BC110581,BC110582,CR617658,CR749635 NP_065825,EAX01132,ACA06016,BAA92561,BAC11439,BAG52320,CAD28502,AAN18023,AAN75493,AAH22403,AAI10582,AAI10583,CAH18429,Q86YT6 Hs.140903,Hs.658808 DIP-1|DKFZp686I0769|DKFZp761M1710|FLJ90676|MGC129659|MGC129660|MIB|ZZANK2|ZZZ6 DAPK-interacting protein 1|E3 ubiquitin-protein ligase MIB1|mind bomb homolog 1|ubiquitin ligase mind bomb|ubiquitin ligase protein MIB1|zinc finger ZZ type with ankyrin repeat domain protein 2 protein-coding 1349487 MIB2 mindbomb homolog 2 (Drosophila) 1331357,737633,1580863 16344560,19690564,12761501,17962190,17081983,16715130,16381901,15920166,15869411,15824097,15489336,15489334,14702039,14507647,12477932,11076863 1331357,737633 142678 AK123400,BC035109,DA391220,DA767833,DC402226,NM_001170686,NM_001170687,NM_001170688,NM_001170689,NR_033183,NM_080875,AL691432,CH471183,AB064367,AB074480,AB076691,AB076692,AB076693,AB097000,AK000655,AK091610,AK095914,AK096295,AK097106,AK098785,AK122751,AK122863,AK128167,AK128553,AK293642,AK302757,AK309362,AL834527,BC016490,BC035078,BC037542 NP_001164157,NP_001164158,NP_001164159,NP_001164160,NP_543151,EAW56174,EAW56175,EAW56176,EAW56177,EAW56178,EAW56179,BAB82979,BAB92950,BAC00992,BAC00993,BAC00994,BAC77353,BAC03707,BAC04646,BAC04752,BAC04952,BAC05413,BAG53705,BAG53766,BAG54643,BAG57097,BAG63969,CAD39183,AAH16490,AAH37542,Q96AX9,CAL37514,CAL38489 Hs.135805,Hs.593430 FLJ20648|FLJ39787|FLJ41406|ZZANK1|ZZZ5 E3 ubiquitin-protein ligase MIB2|OTTHUMP00000083363|OTTHUMP00000083365|OTTHUMP00000083366|OTTHUMP00000220662|OTTHUMP00000220663|OTTHUMP00000220665|OTTHUMP00000220666|OTTHUMP00000220675|mind bomb homolog 2|novel zinc finger protein|novelzin|putative NF-kappa-B-activating protein 002N|skeletrophin|zinc finger ZZ type with ankyrin repeat domain protein 1|zinc finger, ZZ type with ankyrin repeat domain 1|zinc finger, zz type with ankyrin repeat domain 1 protein-coding 1345216 MIC12 antigen identified by monoclonal antibody 30.2A8 3979119 4273 1351247 MIC7 antigen identified by monoclonal antibody 28.3.7 3871395 4270 1345713 MICA MHC class I polypeptide-related sequence A MICA encodes the higly polymorphic MHC (HLA) class I chain-related gene A. The protein product is expressed on the cell surface, although unlike canonical class I molecules does not seem to associate with beta-2-microglobulin. It is thought that MICA functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. [provided by RefSeq] 1580863 15140030,15089901,15089899,15086345,15077289,15051759,15029237,15018633,14752253,14730600,14702039,14679081,14675133,14662896,14630402,14588097,14551603,14530335,14517700,12963865,12941547,12918695,12918694,12915440,12902493,12894536,12878361,12854159,12714493,12691706,12653732,12622774,12590984,12569559,12559632,12542746,12538683,12507824,12492815,12477932,12466900,12414645,12392511,12392510,12384702,12373294,12370336,12242594,12190814,12170475,12170466,12115588,12074713,12068141,12022360,12021141,12021140,12021138,12021133,11975986,11918717,11916168,11881819,11862403,11862400,11862390,11841487,11839711,11797336,11796403,11737059,11696220,11696218,11600224,11556982,11508592,11491503,11465541,11409121,11407684,11390038,11390037,11380951,11323699,11239445,11194237,11169253,11169252,11169245,11118029,11110982,11024213,10894171,10777103,10703615,10380704,10380703,10369920,10369917,9770516,9486173,9373149,9331954,9177776,8995188,8976183,8876061,8824804,8781120,8613147,8125298,8022771,8022769,7927538,2715640,8901601,10426993,11491531,11485740,11830641,11224526,16750166,9497295,10359807,15995699,10426994,18676862,19594363,19508374,19480859,19409079,19405864,19392799,19364518,19363685,19328950,19317747,19280715,19272329,19200602,19184033,19143814,19120272,19066881,19046302,19000729,19000131,18987644,18981088,18957310,18951065,18799098,18791713,18784732,18728002,18718856,18685862,18588574,18578977,18390988,18365394,18365383,18361932,18354183,18348660,18332098,18312344,18287244,18282752,18202175,18158593,18057383,18056367,18023027,18001301,17948965,17911424,17625602,17586836,17570210,17559497,17545046,17523949,17511763,17495932,17389022,17389016,17388919,17350686,17221346,17202358,17130560,17102945,17003176,17003171,16951502,16948893,16923796,16893385,16883538,16784494,16776673,16767211,16720212,16702430,16698437,16698430,16679067,16671949,16634869,16585609,16568261,16547745,16537577,16417220,16386647,16379028,16216678,16184547,16178876,16168521,16151576,16133985,16116311,16101831,16101830,16094621,16091471,16061555,16002667,15952123,15728525,15699512,15699510,15699508,15652646,15640005,15603871,15522921,15381244,15304010,15304009,15272769,15192843,15150599,10746789,18070447,20428196,19781272,19785955,17565371,17584663,18394338,18782524,19193353,19332255,19353249,19539762,19553547,19667965,19691640,19783834,19786616,19793804,19820007,19826051,19851445,19895570,19949079,20045334,20097244,20152875,20153697,20237496,20352225,20492597,20533278,19016911,19913121,20569278,20587610,20628086,20631027,10323458,10331160,10363723,10367903,10691930,10752636,11053635,11181995,12074712,14574404,15104678,15489334,15896200,20478410,9396860,20933106,21061445 100507436 NM_000247,AB015600,AB088108,AB103614,AB202108,AF011834,AF011840,AF011843,AF011849,AF011852,AF011855,AF011858,AF011861,AF011864,AF011867,AK094237,AK225393,AK299135,AY204547,AY750850,BC016929,CR609923,L14848,Y18118,NR_036523,NR_036524,U56944,U56945,U56946,U56947,U56948,U56949,U56950,U56951,U56952,U56953,U56954,U56955,U69622,U69623,U69624,U69625,U69626,U69627,U69628,U69629,U69630,U69631,U69964,U69965,U69966,U69967,U69968,U56943,AF336086,AF336084,AF411925,AJ249394,AJ250499,AJ250500,AJ250501,AJ250502,AJ250503,AJ250504,AJ250505,AJ250506,AJ250507,AJ250802,AJ250803,AJ250804,AJ250805,AJ250990,AJ250991,AJ271789,AJ295250,AJ563426,AJ580805,AJ580806,AL645933,AL669854,AL845443,AY029763,AY095537,AY603357,AY748461,BA000025,BX119958,CH471081,CR847852,L29411,M24036,U56940,U56941,U56942,AF011873,AF011879,AF011882,AF011885,AF011888,AF079415,AF079418,AF079421,AF079424,AF079427,AF085014,AF085018,AF085022,AF085026,AF085030,AF085034,AF085038,AF085042,AF085046,AF085050,AF085054,AF085058,AF085062,AF093113,AF093114,AF093115,AF011870,U69970,U69971,U69972,U69973,U69974,U69975,U69976,U69977,X92841,Y16801,Y16802,Y16803,Y16804,Y16805,Y16806,Y16807,Y16808,Y16809,Y16810,Y16811,Y18110,Y18111,Y18112,Y18113,Y18114,Y18115,Y18116,Y18117,U69969,AF093116,AF097403,AF097404,AF097405,AF097406,AF106634,AF106637,AF106640,AF106643,AF106646,AF106649,AF106652,AF106655,AF264737,AF264740,AF264743,AF264747,AF286734,AF302792,AF303446,AF305055,AF305056,AF336064,AF336066,AF336067,AF336070,AF336072,AF336074,AF336076,AF336078,AF336080,AF336082,AB506764,AB537165,NM_001177519,AL662866,CR318637,XM_003118562,XM_003118563,XM_003118564,XM_003119086,XM_003119087,XM_003119088,XM_003119287,XM_003119288,XM_003119289,XM_003119290,XM_003119374,XM_003119375,XM_003119376,XM_003119377,XM_003119420,XM_003119421,XM_003119422,XM_003119992,XM_003119993,XM_003119994,XM_003120512,XM_003120513,XM_003120514 NP_000238,BAA29034,BAC54940,BAF31275,BAE78633,AAD01474,AAD01476,AAD01477,AAD01479,AAD01480,AAD01492,AAD01481,AAD01482,AAD01483,BAG61187,AAO45822,AAU95072,AAH16929,AAA21718,P78551,P79527,P79528,P79529,P79530,P79531,P79532,P79533,P79534,P79535,P79536,P79537,P79538,P79539,P79540,Q0EFB3,Q29927,Q29983,Q2L6G1,Q546C9,Q5JP35,Q5JQJ3,Q5SS58,Q5SS59,Q7JFP0,Q8WLS2,Q95IC0,Q95IH9,Q95IY4,Q96QC4,Q99691,Q99693,Q99694,Q99695,Q99696,Q9BD03,Q9GJ26,Q9GJ27,Q9GJ30,Q9GJ32,Q9GJ38,Q9GJF5,Q9HB16,Q9TPQ0,Q9TPW6,Q9UDZ8,Q9UDZ9,Q9UE00,Q9UE01,Q9UE02,Q9UE03,Q9UMF1,CAA77037,AAB41063,AAB41064,AAB41065,AAB41066,AAB41067,AAB41068,AAB41069,AAB41070,AAB41071,AAB41072,AAB41073,AAB41074,AAB41075,AAB51778,AAB51779,AAB51780,AAB51781,AAB51782,AAB51783,AAB51784,AAB51785,AAB51786,AAB51787,AAB51788,AAB51789,AAB51790,AAB51791,AAB51792,AAK26324,AAK26323,AAL02224,CAB71317,CAC14280,CAC14281,CAC14282,CAC14283,CAC14284,CAC14285,CAC14286,CAC14287,CAC14288,CAC15380,CAC15381,CAC15382,CAC15383,CAC16142,CAC16143,CAC27561,CAC88121,CAD91415,CAE45581,CAE45582,CAI41759,CAI41760,CAI41761,CAM25447,CAI17643,CAI17647,CAI17648,CAI17649,CAI41907,CAI41908,AAK51140,AAM34484,AAV39504,AAU95382,BAB63308,BAB63309,CAI18744,CAI18745,EAX03392,EAX03393,EAX03394,EAX03395,EAX03396,EAX03397,CAQ11015,CAQ11016,CAQ11018,AAA64611,AAA52662,AAB41060,AAB41061,AAB41062,AAD01485,AAD01486,AAD01488,AAD01489,AAD01490,AAD01491,AAC28941,AAC28942,AAC28943,AAC28944,AAC28945,AAD52060,AAD52061,AAD52062,AAD52063,AAD52064,AAD52065,AAD52066,AAD52067,AAD52068,AAD52069,AAD52070,AAD52071,AAD52072,AAD01475,AAD01478,AAD01473,AAB51793,AAB51794,AAB51795,AAB51796,AAB51797,AAB51798,AAB51799,AAB51800,AAB51801,CAA63427,CAA76393,CAA76394,CAA76395,CAA76396,CAA76397,CAA76398,CAA76399,CAA76400,CAA76401,CAA76402,CAA76403,CAA77029,CAA77030,CAA77031,CAA77032,CAA77033,CAA77034,CAA77035,AAD01487,AAD27006,AAD27007,AAD27008,AAD27009,AAD19598,AAD19599,AAD19600,AAD19601,AAD19602,AAD19603,AAD19604,AAD19605,AAK58536,AAL13171,AAK58537,AAK58538,AAG13966,AAG22082,AAG22083,AAG22086,AAG22087,AAK19622,AAK17997,AAK25770,AAK25771,AAK18281,AAK19623,AAK20897,AAK20898,AAK27364,AAK20899,AAD01484,CAA77036,BAH83534,BAI52964,NP_001170990,CAM24953,CAQ11017,CAX14851,XP_003118610,XP_003118611,XP_003118612,XP_003119134,XP_003119135,XP_003119136,XP_003119335,XP_003119336,XP_003119337,XP_003119338,XP_003119422,XP_003119423,XP_003119424,XP_003119425,XP_003119468,XP_003119469,XP_003119470,XP_003120040,XP_003120041,XP_003120042,XP_003120560,XP_003120561,XP_003120562 Hs.130838 FLJ36918|FLJ60820|MGC111087|MGC21250|MIC-A|PERB11.1 HLA class I antigen|MHC class I chain-related gene A protein|MHC class I chain-related protein A|MHC class I polypeptide-related sequence A|MIC-A|OTTHUMP00000029088|OTTHUMP00000165172|Stress inducible class I homolog|stress inducible class I homolog protein-coding 1604315 MICAL1 microtubule associated monoxygenase, calponin and LIM domain containing 1 11827972,17662518,17081983,15796781,15694364,15489334,14702039,14574404,12788069,12477932,12110185,11214971,10808124,9373149,8125298,19913121,20628086 64780 NM_022765,NM_001159291,AL109947,CH471051,AB048948,AK021999,AK025392,AK160384,AK225049,AK296284,AL122098,BC009972,BC036514,BC042144,BC052983,AK024500 NP_073602,NP_001152763,CAI23342,CAI23343,CAI23344,CAI23345,EAW48339,EAW48340,EAW48341,EAW48342,EAW48343,EAW48344,EAW48345,BAB86289,BAB13949,BAB15790,BAB15124,BAD18727,BAH12301,CAB59266,AAH09972,AAH42144,AAH52983,Q5TED6,Q5TED7,Q5TED9,Q6ZMJ8,Q8TDZ2 Hs.33476 DKFZp434B1517|FLJ11937|FLJ21739|MICAL|MICAL-1|NICAL CasL interacting molecule|NEDD9 interacting protein with calponin homology and LIM domains|NEDD9-interacting protein with calponin homology and LIM domains|molecule interacting with CasL protein 1 protein-coding 1602728 MICAL2 microtubule associated monoxygenase, calponin and LIM domain containing 2 20379614,16675569,15694364,15489334,14702039,12477932,12110185,9872452,9110174,8619474 9645 AK294845,AK302580,AK302893,NM_014632,AC025106,AC079329,CH471064,AB018293,AB110785,AB110786,AF052170,AK122821,AK127301,BC015755,BC017104,BC044577,BC048206,BK000462,BX538021,BX641163 BAG57951,BAG63835,BAH13835,Q5KTR4,NP_055447,EAW68528,EAW68529,EAW68530,EAW68531,BAA34470,BAD83656,BAD83657,AAH44577,DAA01341,CAD97967,CAE46072,O94851,Q5KTR3 Hs.501928 DKFZp686H03148|DKFZp686H2469|KIAA0750|MICAL2PV1|MICAL2PV2 flavoprotein oxidoreductase MICAL2|protein MICAL-2 protein-coding 1603016 MICAL3 microtubule associated monoxygenase, calponin and LIM domain containing 3 15694364,15489334,15461802,15302935,15146197,14702039,12477932,12110185,11181995,10737800,10718198,10591208,10048485,17081983,16344560,20379614 57553 NM_001122731,NM_001136004,AC016026,AC016027,CH471193,AB020626,AB037785,AK023678,AK025369,AK124853,AK126925,AK127487,AK289506,AK295978,BC006562,BC035213,BC046364,BC047315,BC064400,BC085009,BC157876,NM_015241,BF928259,BK000464,BK000465,BU617485,BX647382,CN425716,CR456364,CR976532,DA531335,DR731344,BC171887 NP_056056,NP_001116203,NP_001129476,EAW57777,EAW57779,EAW57780,EAW57781,BAA74842,BAA92602,BAF82195,BAG58753,AAH06562,AAH85009,AAI57877,AAI71887,DAA01343,DAA01344,CAG30250,Q5U4P4,Q7RTP6,BAG10388,CAK54648,CAK54947 Hs.528024 KIAA0819|MGC189703 OTTHUMP00000196147|OTTHUMP00000196148|flavoprotein oxidoreductase MICAL3|protein MICAL-3 protein-coding 1602850 MICALCL MICAL C-terminal like 14702039,12110185,15694364,20379614 84953 NM_032867,AC025300,CH471064,AK027872,AK123671,BK000463 NP_116256,EAW68527,BAB55422,BAC85674,DAA01342,Q6ZW33,AAI68365 Hs.128196 Ebitein1|FLJ14966 ERK2-binding testicular protein 1|MICAL C-terminal-like protein|ebitein-1 protein-coding 1602200 MICALL1 MICAL-like 1 15489334,15461802,15324660,15302935,14702039,12788069,12477932,12110185,12058051,11258795,10591208,19041431,19864458 85377 NM_033386,AL022311,CH471095,AB051455,AJ496196,AK056603,AK127819,AL833860,AL834373,BC001090,BC082243,BK000466,CA432878,CB997694,CR456437,CR601225,CR749566 NP_203744,CAI18864,EAW60199,BAB33338,CAD42713,CAD38718,CAD39036,AAH01090,AAH82243,DAA01345,CAG30323,CAH18362,Q641Q8,Q68D58,Q8N3F8,AAI42606,AAI43051,AAI46384,AAI48805 Hs.517610 DKFZp686M2226|FLJ45921|KIAA1668|MICAL-L1|MIRAB13 MICAL-like protein 1|molecule interacting with Rab13 protein-coding 1605936 MICALL2 MICAL-like 2 17891173,16525024,16344560,15489334,14702039,12975309,12477932,12110185 79778 NM_182924,AC102953,CH236953,CH471144,AK027124,AK074068,AK091986,AK093249,AK123990,AK126808,AK127339,AL833704,AY358755,BC037988,BC039886,BK000467,CR607234,DA945802 NP_891554,EAW87200,EAW87201,BAB15667,BAB84894,BAC86702,CAD98087,AAQ89115,AAH37988,DAA01346,Q6UWK3,Q8IY33,ACE87461,ACE86775 Hs.376617,Hs.663699 FLJ23471|FLJ41996|FLJ44858|FLJ45410|JRAB|MGC46023|MICAL-L2 MICAL-like protein 2|junctional Rab13-binding protein protein-coding 1354237 MICB MHC class I polypeptide-related sequence B This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. [provided by RefSeq] 1580863 11491531,9497295,11239445,12782710,11287116,12569559,19200602,19147769,19115949,18791713,18785505,18588574,18505429,18486757,18332098,18287244,17678727,17641203,17625602,17561376,17557375,17202358,17003176,16923796,16849432,16776673,16702430,16698444,16698441,16679067,16568261,16101831,16101830,15967992,15640005,15304009,15304008,15192843,15191526,15146197,14662896,12902493,12714493,12682252,12594848,12538683,12477932,12466900,12392511,12384702,12242594,12133964,12022360,11881819,11862397,11858820,11169252,10894171,10746790,20428196,17565371,17584663,18394338,19553547,19662431,19691640,19851445,19949079,10359807,9770516,9694358,9321430,9271635,8995188,8952966,8901601,8889548,8824804,8575823,8022771,10047540,7927538,10691930,20138739,20662065 4277 NM_005931,AB003609,AB003610,AB003611,AB003612,AB003613,AB003614,AB003615,GU235997,NG_021405,AB003616,AB003617,AB003618,AB088107,AB202111,AJ251156,AJ251158,AJ251160,AJ563706,AJ606906,AJ606907,AJ606908,AJ606909,AJ606910,AJ606911,AJ606912,AJ606913,AJ606914,AJ606915,AJ606916,AJ606917,AJ606918,AJ606919,AJ606920,AJ606922,AJ606923,AJ606927,AJ606928,AJ606929,AJ606930,AJ606931,AL662866,AL663061,BA000025,BX001040,BX005439,BX927320,CH471081,CR753820,CR753864,CR788288,U65416,U69978,AF021221,AF021222,AF021223,AF021224,AF021225,AF021226,AK291927,AJ606921,AK300791,AK303655,AK314228,AY885251,BC044218,BQ216247,BU684700,CN389975,DC427936,U95729,U95730,U95731,U95732,U95733,U95734,X91625 NP_005922,BAA23476,BAA23477,BAA23478,BAA23479,BAA23480,BAA23481,BAA23482,ADA68470,BAA23483,BAA23484,BAA23485,BAC54939,BAE78634,CAB72101,CAB72097,CAB72098,CAD91554,CAE54932,CAE54933,CAE54934,CAE54935,CAE54936,CAE54937,CAE54938,CAE54939,CAE54940,CAE54941,CAE54942,CAE54943,CAE54944,CAE54945,CAE54946,CAE54947,CAE54948,CAE54949,CAE54953,CAE54954,CAE54955,CAE54956,CAE54957,CAI17555,CAI18082,BAB63307,CAI18629,CAI18630,CAI18747,CAI18748,EAX03402,EAX03403,CAQ09224,CAQ09225,AAB42011,AAB51802,AAC39846,AAC39847,AAC39848,AAC39849,AAC39850,AAC39851,BAG62451,BAH14007,BAG36899,AAH44218,AAB71642,AAB71643,AAB71644,AAB71645,AAB71646,AAB71647,CAA62823,Q0EFB4,Q29980,Q5RIY5,Q861E6,BAF84616 Hs.719929 PERB11.2 MHC class I chain-related protein B|MHC class I mic-B antigen|MHC class I polypeptide-related sequence B|MHC class I-like molecule PERB11.2-IMX|MIC-B|stress inducible class I homolog protein-coding 1344876 MICC MHC class I polypeptide-related sequence C 8022771 100129192 AL844203,BX927214,CR812479,AL662873,NG_027534 PERB11.3 pseudo 1344366 MICD MHC class I polypeptide-related sequence D 10557312,8022771,20593013 4279 AB023056,AF055066,AL671277,NG_015983,AL645935,AL845454,BX005091,BX927229,CR382333,CR388205,CR388220,CR759762 PERB11.4 pseudo 1346954 MICE MHC class I polypeptide-related sequence E 10331161 4280 BX927182,NG_002916,AF055066,AL645939,AL669813,AL844851,BX005428,BX927250,CR753818,CR788234 PERB11.5|dJ377H14.7 pseudo 1349529 MICF MHC class I polypeptide-related sequence F pseudogene 10557312 352957 AB023057,AF055066,AL645929,AL671561,NG_015984,BX001005,BX247949,BX927141,CR388220,CT009517 pseudo 1352177 MICG MHC class I polypeptide-related sequence G pseudogene 10557312 352967 NG_002733,AL645939,AL671561,AL844851,BA000025,BX005428,BX927141,CR759769,CR788234,CR925767 pseudo 732275 MID1 midline 1 (Opitz/BBB syndrome) The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Several different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq] 1580863 10077590,9354791,19049519,18949047,18697196,18360914,18220417,18172692,18005432,17672918,17428496,17221865,17081983,17043407,16529770,16498413,16378742,16344560,15558842,15489334,15057556,12833403,12798296,12545276,12477932,12411602,12408967,11371618,11331580,11030761,10400985,9722948,9718340,9425238,7493033,11685209,15070402,17438131,19549727,11806752 4281 NM_033290,NM_001098624,NM_000381,NG_008197,AC002349,AC008008,AC117406,CH471074,U96409,AF035360,AF041206,AF041208,AF041210,AF230976,AF230977,AF269101,AK025187,AK226104,AK291215,AK297205,AK299061,AK315095,AY112901,AY539962,AY539963,AY539964,AY539979,AY539980,AY539982,AY539983,AY539984,AY539985,AY539986,AY539989,AY539990,AY539991,AY539994,AY539995,AY539996,AY539997,AY539998,AY540001,AY540009,AY540010,AY540011,AY540012,AY540014,AY540015,AY540016,AY540022,AY540023,BC053626,DA856308,DC309977,DC369426,EF217423,EF217424,EF217425,Y13667,AI371111,AY112900,AY539967,AY539969,AY539970,AY539971,AY539972,AY539973,AY539974,AY539976,AY539977,AY539978,AY539987,AY539988,AY539993,AY540000,AY540002,AY540003,AY540004,AY540005,AY540008,AY540013,AY540017,AY540018,AY540020,AY540021,DA435613,EF217426,EF532594,EF532595,EF532596,NM_001193277,NM_001193278,NM_001193279,NM_001193280,NM_001193281,NM_033289,AY540007 NP_150632,NP_001092094,NP_000372,EAW98779,EAW98780,EAW98781,AAB99951,AAC32998,AAC33000,AAC33002,AAG50191,AAG50192,AAG33130,BAF83904,BAG59690,BAH12942,BAG37559,AAH53626,CAA74018,O15344,ABZ92039,NP_001180206,NP_001180207,NP_001180208,NP_001180209,NP_001180210,NP_150631 Hs.27695,Hs.689953 BBBG1|FLJ57031|FLJ58683|FLJ76288|FXY|GBBB1|MIDIN|OGS1|OS|OSX|RNF59|TRIM18|XPRF|ZNFXY OTTHUMP00000022896|OTTHUMP00000022898|OTTHUMP00000022899|OTTHUMP00000022900|OTTHUMP00000022901|OTTHUMP00000022902|RING finger protein 59|midline 1|midline 1 RING finger protein|midline-1|putative transcription factor XPRF|tripartite motif protein TRIM18|tripartite motif-containing protein 18|zinc finger on X and Y, mouse, homolog of protein-coding 1344749 MID1IP1 MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) 1580863 20457939,16344560,16189514,15489334,15070402,14702039,12477932,17207965 58526 NM_001098791,NM_021242,AF241728,CH471141,AF050158,AJ272057,AK001248,AW086438,BC008908,BC019332,BK001260,NM_001098790,CR457220,CR592650,CR594371,CR595671,CR597771,CR598612,CR610591,CR621138,CR623767,DA138791 NP_001092260,NP_001092261,NP_067065,EAW59435,EAW59436,CAB89113,BAA91580,AAH08908,AAH19332,DAA01482,CAG33501,Q9NPA3,ADQ31584 Hs.522605 FLJ10386|G12-like|MIG12|STRAIT11499|THRSPL MID1 interacting G12-like protein|MID1 interacting protein 1 (gastrulation specific G12-like)|gastrulation-specific G12-like protein|mid1-interacting G12-like protein|mid1-interacting protein 1 protein-coding 1602493 MID2 midline 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 18029348,10400986,16713569,16283679,16189514,15772651,15489334,15249690,14702039,12477932,11806752,11331580,10644436,10400985,19690564 11043 NM_012216,NM_052817,NG_011907,AL034399,AL109946,CH471120,AF196481,AK095034,AK123807,AY625004,BC017707,BC035557,BC058011,BC070370,BT006663,DN997921,Y18880 NP_036348,NP_438112,CAI42073,CAI42074,CAO72052,CAO72053,CAO72054,EAX02701,EAX02702,EAX02703,AAF07341,AAT48105,AAH17707,AAP35309,CAB56154,Q6GX22,Q9UJV3 Hs.12256 FLJ37715|FLJ41813|FXY2|RNF60|TRIM1 RING finger protein 60|midin 2|midin-2|midline defect 2|midline-2|probable E3 ubiquitin-protein ligase MID2|tripartite motif protein 1|tripartite motif-containing protein 1 protein-coding 1320070 MIDN midnolin 16303743,12477932,11441184,10974535 90007 NM_177401,AL512725,CH471139,AA421908,AK075506,BC015089,BC060848,BC094778,BM966744,CR598784,HI574022 NP_796375,EAW69527,EAW69528,EAW69529,AAH15089,AAH94778,Q504T8,CBX47500 Hs.726159 DKFZp547M072 midbrain nucleolar protein|midnolin protein-coding 1605649 MIER1 mesoderm induction early response 1 homolog (Xenopus laevis) 12761501,18665173,17081983,16710414,16565220,15489334,15302935,15117948,14702039,12482978,12477932,12242014,10997877,9813250,18029348 57708 NM_020948,NM_001077700,NM_001077702,NM_001077703,NM_001077701,NM_001077704,NM_001146110,NM_001146111,NM_001146112,NM_001146113,AL139216,AL500525,CH471059,AB046830,AF515446,AF515447,AF515448,AK302061,AK307717,AL831987,AY124186,AY124187,AY124188,AY124189,AY124190,AY124191,AY124192,AY124193,AY124194,BC017423,BC066898,BC108726,BC125217,BC125218,BM987758,CR605430,CR627441 NP_065999,NP_001071168,NP_001071170,NP_001071171,NP_001071169,NP_001071172,NP_001139582,NP_001139583,NP_001139584,NP_001139585,CAI18873,CAI18874,CAI18875,CAI18876,CAI18877,CAI18878,CAI18879,CAI23427,CAI23428,CAI23429,CAI23430,CAI23431,CAI23432,EAX06505,EAX06506,EAX06507,EAX06508,EAX06509,EAX06510,EAX06511,EAX06512,BAB13436,AAM76040,AAM76041,AAM76042,BAG63451,CAD89921,AAM97499,AAM97500,AAM97501,AAM97502,AAM97503,AAM97504,AAM97505,AAM97506,AAM97507,AAH17423,AAH66898,AAI08727,AAI25218,AAI25219,CAH10526,Q08AE0,Q32NC4,Q5TAD1,Q6NXT7,Q8N108 Hs.605432 DKFZp781G0451|ER1|KIAA1610|MGC131940|MGC150640|MGC150641|MI-ER1|RP5-944N15.1|hMI-ER1 OTTHUMP00000010782|OTTHUMP00000010960|OTTHUMP00000010962|OTTHUMP00000010963|early response 1|mesoderm induction early response 1 (MI-ER1)|mesoderm induction early response protein 1 protein-coding 1316379 MIER2 mesoderm induction early response 1, family member 2 737633 12477932,10574462 737633 54531 NM_017550,AC016588,BC028203,AB033019 NP_060020,BAA86507,AAH28203 Hs.101891 KIAA1193 mesoderm induction early response protein 2 protein-coding 1605562 MIER3 mesoderm induction early response 1, family member 3 16381901,16344560,15489336,14702039,12477932,11230166,11076863 166968 NM_152622,AC008937,AC016644,CH471123,AK002183,AK093273,AK299285,BC013936,BC041348,BX537798,BX640907,BX647359,BX648294,CR749246,CR749805,DB136129 NP_689835,EAW54959,EAW54960,BAC04117,BAG61301,AAH41348,CAD97846,CAE45951,CAI56710,CAH18102,CAH18665,Q7Z3K6,CAL38471,ABZ92415,ACE87360,ACE86675 Hs.657594 DKFZp686L09111|DKFZp781G1119|DKFZp781I1119|FLJ35954 OTTHUMP00000065914|OTTHUMP00000203418|mesoderm induction early response protein 3|mi-er3 protein-coding 734203 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq] 1641954,1642000,1642002,1641950,1641957,1641991,1641993,1642006,1642009,1642011,1641953,1641949,1641978,1641983,1641989,1642001,1642003,1642007,1642012,1641951,1641955,1641979,1641984,1641985,1641997,727512,1642008,1642013,1580863,4891022,4890977,4891007,4891010,4891014,4891035,4891006,4891009,4891013,4891015,4890972,4891052,4891058,4890974,4891012,4891004,4891023,4891045,4890973,4891017,4891043,4891053,4891056,4890976,4891059,4891046,4142792,4891005 20382217,20872800,16780713,20534506,20598902,20944103,10562313,16169070,17045821,18930766,19062717,19170716,19260777,19406662,19423540,19464392,19601712,19602265,19644855,19665027,19720544,19723024,19724898,19726058,19737008,19747950,19759012,19762145,19773451,19776019,19776337,19829123,19938192,19941661,19950249,20038293,20085845,20127054,20149326,20193596,20200619,20233515,20237496,20303284,20346241,20380014,20406964,20438785,20439102,20447688,20452482,20467327,20471506,20546256,20863520,18171527,20383199,12782713,17526494,16285950,12681488,19591577,19475570,19454686,19428548,19417556,19394321,19376177,19346297,19317738,19299454,19196797,19188484,19167373,19157791,19155217,19109179,19081768,19038405,19009023,18853133,18852457,18842989,18832726,18815136,18795803,18720262,18710704,18684922,18680514,18677096,18676531,18618071,18502749,18493321,18490733,18474653,18469521,18466513,18426738,18362243,18356846,18270460,18261992,18242614,18239193,18235500,18228042,18177450,18171602,18165264,18097599,18081874,18078632,18074864,18060744,18054247,18037272,18034423,17912466,17906677,17869648,17854909,17854804,17786285,17763209,17728788,17712545,17709373,17706208,17658526,17620429,17592555,17591062,17559578,17541237,17495357,17438455,17438452,17435771,17224449,17215861,17206642,17181929,17172590,17166737,17142775,17108334,17075815,17029206,17005573,16929348,16893895,16872482,16861224,16854377,16839849,16820919,16807115,16767681,16724072,16709839,16677407,16538639,16527487,16488392,16388506,16385258,16369812,16317091,16314559,16314470,16247506,16243796,16224818,16220288,16205314,16200611,16189514,16179637,16133063,16115023,16085663,16051683,16000172,15910597,15910495,15838879,15820792,15815686,15800984,15757663,15659324,15630728,15612021,15592455,15585220,15585204,15576462,15545824,15545061,15489334,15472203,15461802,15308783,15304087,15292349,15286457,15231747,15216464,15170913,15146431,15146413,15065001,15018649,14962818,14760795,14736878,14607690,14581488,14551601,14502271,12965208,12847682,12822893,12796500,12746913,12740374,12738641,12667094,12665801,12631237,12626594,12615835,12612911,12607777,12576459,12507885,12480958,12477932,12445161,12402212,12355488,12235522,12218308,12218292,12186913,12180727,12126556,12109441,12070782,12032852,12009356,11997397,11985788,11978887,11920501,11875000,11508429,11259268,11170644,11089976,10353846,10334104,9027512,9006339,9002552,8988336,8766818,8647256,8643551,8610159,8601455,8289313,8234256,8188240,7947826,7683862,7679497,7558020,3917866,2552447,1286669,17353931,20203087,20460119,19913121,20621719,20628086,20673868,20805296,20811626,20878093,21045753,20847814,20980171 1641954,1642000,1642002,1641950,1641957,1641991,1641993,1642006,1642009,1642011,1641953,1641949,1641978,1641983,1641989,1642001,1642003,1642007,1642012,1641951,1641955,1641979,1641984,1641985,1641997,727512,1642008,1642013,4891022,4890977,4891007,4891010,4891014,4891035,4891006,4891009,4891013,4891015,4890972,4891052,4891058,4890974,4891012,4891004,4891023,4891045,4890973,4891017,4891043,4891053,4891056,4890976,4891046,4142792,4891005 4282 NM_002415,NG_012099,AP000350,CH471095,DQ307455,L19686,AF469046,AK311929,BC000447,BC007376,BC007676,BC008914,BC013976,BC022414,BC053376,BT007148,CR407644,CR456520,CR541651,CR602271,CR606770,L10612,M25639,M95775,Z23063,BC051440 NP_002406,EAW59620,ABB96245,AAA21814,AAL78635,BAG34870,AAH00447,AAH07676,AAH08914,AAH13976,AAH22414,ABM83121,ABM86316,AAH53376,AAP35812,CAG28572,CAG30406,CAG46452,AAA35892,AAA36315,AAA36179,CAA80598,P14174,CAK54551,CAK54850 Hs.407995 GIF|GLIF|MMIF L-dopachrome isomerase|L-dopachrome tautomerase|macrophage migration inhibitory factor|phenylpyruvate tautomerase protein-coding 1606529 MIF4GD MIF4G domain containing This gene encodes a protein which contains an MIF4G domain. [provided by RefSeq] 18025107,16713569,16189514,15231747,12477932,17577209 57409 NM_020679,AC022211,CH471099,AF225422,AK300711,BC033759,CR593165,CR595273,CR597523,CR605533,CR605810,CR608731,CR622912,CR623253,CR624146 NP_065730,EAW89263,EAW89264,EAW89265,EAW89266,AAG09724,BAG62389,AAH33759,A9UHW6,ABM81741,ABM84897 Hs.325631 AD023|MGC45027|MIFD|SLIP1 MIF4G domain-containing protein|SLBP (stem loop binding protein)-interacting protein 1|SLBP-interacting protein 1|hSLIP1 protein-coding 1602214 MIIP migration and invasion inhibitory protein 15867349,14702039,14617774,12477932,17207965,19773279,20008322,20103646,20418911 60672 CR621410,CR622933,FJ618905,AL096840,CH471130,AK022500,AK024020,AK095928,AW196459,BC008068,BG536799,BI828925,CR591496,CR592183,CR603285,CR604336,CR604486,CR607498,CR610913,CR617109,NM_021933 ACM90320,Q5JXC2,ADQ32288,NP_068752,CAI19089,EAW71729,BAB14062,BAB14781,AAH08068 Hs.8595 FLJ12438|FLJ38609|IIP45|RP5-1077B9.4 IGFBP-2-Binding Protein|IGFBP2-binding protein|invasion inhibitory protein 45|invasion-inhibitory protein 45|migration and invasion-inhibitory protein protein-coding 2299990 MIMT1 MER1 repeat containing imprinted transcript 1 (non-protein coding) 17509818,20801769 100073347 NR_024059,EF110915,AC004792,AC006115,NG_012989 Hs.467337 MIM1|NCRNA00067 miscrna 1602998 MINA MYC induced nuclear antigen MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM] 12477932,12091391,8889548,14695334,14702039,18029348,19502796,18629780,17803656,17786344,16344560,16189514,15897898,15819408,15534111,14742713,19756735 84864 AB083189,AB083190,AB083191,AB083192,AB083193,AK027299,AL550737,AY302110,AY390536,AY456380,BC014928,BM979079,CR604605,CR626231,CR627479,DA696177,DQ453796,NM_153182,NM_001042533,NM_032778,AC026100,AC110491,CH471052 BAC16537,BAC16358,BAC16359,BAC16360,BAC16361,BAB55024,AAP59421,AAR27293,AAR21572,AAH14928,CAH10679,ABE28016,Q8IUF8,NP_694822,NP_001035998,NP_116167,EAW79872,EAW79873,EAW79874,EAW79875 Hs.607776 DKFZp762O1912|FLJ14393|MDIG|MINA53|NO52 MYC-induced nuclear antigen|mineral dust induced gene protein|mineral dust-induced gene protein|myc-induced nuclear antigen, 53 kDa|nucleolar protein 52 protein-coding 1604362 MINK1 misshapen-like kinase 1 (zebrafish) This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 18930710,10708748,18752142,17165161,17081983,16760206,15489334,15469942,15302935,14702039,12668260,12665801,12477932,12107410,12087176,8889548,21048137,15032605,16344560 50488 AF218033,AK096610,AL157418,AY775058,BC028888,BC034673,BC094686,BM674875,BQ006038,CA392419,NM_170663,NM_015716,NM_001024937,AB070507,AC109333,CH471108,AB035698,AB041926,AB209450,NM_153827,NG_028005,AC233723,DA653105 AAG17275,AAV41830,AAH34673,Q59FL0,Q5U8Z0,Q8N4C8,Q8NG69,Q9HBM9,ABM82084,ABM85265,NP_722549,NP_733763,NP_056531,NP_001020108,BAB97271,EAW90398,EAW90399,EAW90400,EAW90401,EAW90402,EAW90403,BAA90753,BAA94838,BAD92687 Hs.443417 B55|MAP4K6|MGC21111|MINK|YSK2|ZC3|hMINK|hMINKbeta GCK family kinase MINK|MAPK/ERK kinase kinase kinase 6|MEK kinase kinase 6|MEKKK 6|misshapen-like kinase 1|misshapen/NIK-related kinase|mitogen-activated protein kinase kinase kinase kinase 6|serine/threonine protein kinase protein-coding 733356 MINPP1 multiple inositol polyphosphate histidine phosphatase, 1 MINPP1 hydrolyzes the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate and, like PTEN (MIM 601728), has the ability to remove 3-phosphate from inositol phosphate substrates.[supplied by OMIM] 737769 11230166,10938126,9472008,21071540,11297621,18413611,10087200,9923613,16344560,16335952,15489334,15164054,12975309,12477932,11536049,16385451,18497331,20304771,17207965 737769 9562 NM_004897,AF046915,AL138767,AL355334,CH471066,AB209819,AF046914,AF084943,AF084944,AK304624,AK309176,AK312937,AL050356,AY358938,BC032504,BU173009,CR595009,DA295586,AW243689,NG_013023,NM_001178117,NM_001178118 AAD02438,NP_004888,CAI16029,CAI16030,CAH73422,CAH73423,EAW50185,EAW50186,BAD93056,AAD02437,AAD09751,AAD09752,BAG65406,BAG35779,CAB43673,AAQ89297,AAH32504,Q9UNW1,Q9UPB6,NP_001171588,NP_001171589,ADQ31759 Hs.121260 DKFZp564L2016|HIPER1|MINPP2|MIPP inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase|ins(1,3,4,5)P(4) 3-phosphatase|multiple inositol polyphosphate histidine phosphatase, 1|multiple inositol polyphosphate phosphatase 1|multiple inositol polyphosphate phosphatase 2 protein-coding 1601868 MIOS missing oocyte, meiosis regulator, homolog (Drosophila) 16344560,14973288,14702039,12477932,19615732 54468 AC004982,CH236948,CH471073,AK000330,AK096829,AK294561,AL136892,BC005883,BC068512,BC140833,NM_019005,BC140834,DB300609,DB451117 NP_061878,AAC31788,EAW93598,EAW93599,EAW93600,EAW93601,EAW93602,BAA91090,BAG57758,CAB66826,AAH05883,AAI40834,AAI40835,Q9NXC5 Hs.520215 FLJ20323 H_DJ1159O04.1|OTTHUMP00000201671|WD repeat-containing protein mio|WUGSC:H_DJ1159O04.1 protein-coding 737368 MIOX myo-inositol oxygenase 631888,1580863 19896870,15778219,15504367,15489334,15461802,14702039,12477932,11716759,10944187,10591208,3017301,2226462 631888 55586 NM_017584,AL096767,CH471138,AF197129,AK000576,AY064416,AY738258,BC012025,BC064395,BC073848,CR456478 NP_060054,CAB63064,CAO03465,CAO03466,CAO03467,EAW73544,EAW73545,EAW73546,EAW73547,AAF25204,BAA91266,AAL47192,AAV65816,AAH12025,AAH73848,CAG30364,Q05DJ6,Q9UGB7,CAK54459,CAK54758 Hs.129227 ALDRL6|MGC90217 MI oxygenase|OTTHUMP00000196609|aldehyde reductase (aldose reductase) like 6|aldehyde reductase-like 6|inositol oxygenase|kidney-specific protein 32|renal-specific oxidoreductase protein-coding 735323 MIP major intrinsic protein of lens fiber Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq] 1599936,1580863 9664032,9421492,9268644,8910261,8889548,8566800,8529419,7536742,7525161,2487274,2335219,2176601,1911643,1790714,1505237,1840563,19137077,18501347,18247294,18004741,17960133,17932686,17893667,16564824,16549056,15489334,15274640,12642491,12522663,12477932,12107413,11001937,10802646,10634618,10067969,19723544,19857466,20361015,19913121,20628086 1599936 4284 NM_012064,AC024884,CH471054,U36308,AK307357,BC074913,BC117474,BM696300,BM705396,BM716579,BM724221,CD675949,NG_021397 AAH74913,NP_036196,EAW96940,AAC02794,AAI17475,P30301,ADR82888 Hs.574026 AQP0|LIM1|MIP26|MP26 aquaporin 0|lens fiber major intrinsic protein|major intrinsic protein of eye lens fiber protein-coding 1344343 MIPEP mitochondrial intermediate peptidase The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq] 1580863 9073519,12477932,10783257,9373149,8125298,1322290,16344560,18029348,20877624 4285 NM_005932,AL139080,AL157368,CH471075,AK225290,AK291923,AK308908,BC009934,CR616891,U80034,DA419922,AL445985 NP_005923,CAI39628,CAI39630,CAI15091,EAX08328,EAX08329,BAF84612,AAH09934,AAC51231,Q99797,ABM84536,ABM87838,CAM20040 Hs.507498 HMIP|MIP mitochondrial intermediate peptidase protein-coding 4891981 MIPEPP2 mitochondrial intermediate peptidase pseudogene 2 100130099 AL583825,AL596107,NG_022759 pseudo 1344580 MIPOL1 mirror-image polydactyly 1 18029348,15489334,12700605,12477932,11954550,19667180,20379614,16712791 145282 NM_001195296,NM_001195297,NG_027724,NM_138731,AL079304,AL109759,AL121790,AL121857,CH471078,AK291850,AY059470,BC035870,BC036124,BC036523,BX537396,BX537870,BX647795,CB105473 NP_001182225,NP_001182226,NP_620059,EAW65846,EAW65847,EAW65848,EAW65849,EAW65850,BAF84539,AAL27798,AAH35870,AAH36124,AAH36523,CAD97638,CAD97872,Q49AL5,Q4G0U7,Q8TD10 Hs.660396 DKFZp313M2036|MGC34010 mirror-image polydactyly gene 1 protein protein-coding 1346542 MIR1-1 microRNA 1-1 MicroRNAs (miRNAs) are phylogenetically conserved small RNAs that regulate translation of target mRNAs, providing a mechanism for protein dose regulation. The miRNA1 subfamily contains 2 distinct genes, MIRN1-1 and MIRN1-2 (MIM 610252), that are expressed predominantly in heart and skeletal muscle and encode the same mature miRNA (Zhao et al., 2005 [PubMed 15951802]).[supplied by OMIM] 18593903,17606841,15951802,20458751,12007417,16381832,17604727,20158877,19896465,20041488,20075508,20937250 406904 AL449263,NR_029780 MIRN1-1|hsa-mir-1-1|miRNA1-1 miscrna 1350943 MIR1-2 microRNA 1-2 MicroRNAs (miRNAs) are phylogenetically conserved small RNAs that regulate translation of target mRNAs, providing a mechanism for protein dose regulation. The miRNA1 subfamily contains 2 distinct genes, MIRN1-1 (MIM 609326) and MIRN1-2, that are expressed predominantly in heart and skeletal muscle and encode the same mature miRNA (Zhao et al., 2005 [PubMed 15951802]). For further information on the mature miRNA encoded by both MIRN1-1 and MIRN1-2, see MIM 609326.[supplied by OMIM] 15951802,12007417,16381832,17604727,20158877,20889907,20842122 406905 AC103987,NR_029662 MIRN1-2|hsa-mir-1-2|miRNA1-2 miscrna 1345382 MIR100 microRNA 100 19138993,11914277,16381832,17604727,17616659,20158877,19739117,19851984,20081105,20585341,20732906,20889907 406892 AP001359,AF480498,AF480538,NR_029515 MIRN100|miR-100 miscrna 1345212 MIR101-1 microRNA 101-1 19133651,19008416,11914277,15325244,16381832,17604727,17616659,20889907 406893 AL357078,AF480499,AF480539,NR_029516 MIRN101-1 miscrna 1347793 MIR101-2 microRNA 101-2 19133651,19008416,20889907,11914277,15325244,16381832,17604727,17616659 406894 AL158147,NR_029836,AF480540 MIRN101-2 miscrna 1351023 MIR103-1 microRNA 103-1 11914277,15183728,16381832,17604727,17616659,20158877 406895 AC020894,NR_029520,AF480501,AF480545 MIRN103-1 miscrna 2946922 MIR103-1AS microRNA 103-1-as microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18524951 100302238 AC020894,NR_031721 MIRN103-1AS|hsa-mir-103-1-as miscrna 1345954 MIR103-2 microRNA 103-2 12477932,11914277,15183728,16381832,17604727,17616659,19144710,20158877 406896 AL353194,NR_029519,AF480544 MGC17708|MIRN103-2 miscrna 2946909 MIR103-2AS microRNA 103-2-as microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18524951 100302282 AL353194,NR_031722 MIR103-2-AS|MIRN103-2AS|hsa-mir-103-2-as miscrna 1348325 MIR105-1 microRNA 105-1 11914277,16381832,17604727 406897 AC108171,AF480503,AF480547,NR_029521 MIRN105-1 miscrna 1350334 MIR105-2 microRNA 105-2 11914277,16381832,17604727 406898 AC108171,AF480548,NR_029522 MIRN105-2 miscrna 1353045 MIR106A microRNA 106a MicroRNAs (miRNAs), such as MIR106A, are small noncoding RNAs involved in posttranscriptional regulation of gene expression (Sharma et al., 2009 [PubMed 19307576]).[supplied by OMIM] 19307576,11914277,12554860,12624257,16381832,17604727,20349219,20089119 406899 AC002407,AF480549,AF480504,AJ550400,NR_029523 MIRN106A|mir-106 miscrna 1346496 MIR106B microRNA 106b MicroRNAs (miRNAs), like MIR106B, are short noncoding RNAs that regulate gene expression by binding complementary sequences in the 3-prime UTRs of target mRNAs and either inhibiting their translation or inducing their degradation (Petrocca et al., 2008 [PubMed 18328430]).[supplied by OMIM] 19096009,18328430,18212054,12919684,15634332,15800047,15978578,16381832,17604727,17616659,18230126,20637509,19486339,20167074,20388916,20609231,20889907 406900 AC073842,NR_029831,CH236956 MIRN106B miscrna 1346170 MIR107 microRNA 107 18234899,12624257,11914277,20413881,16381832,17604727,19688090,19692702,20308559,20489155,20889907 406901 AL157400,AF480505,AJ550401,AF480550,NR_029524 MIRN107|miR-107 miscrna 1348739 MIR10A microRNA 10a MicroRNAs (miRNAs), such as MIRN10A, are 19- to 25-nucleotide noncoding RNAs that regulate gene expression by targeting mRNAs in a sequence-specific manner. Depending on the degree of complementarity between miRNAs and their targets, they can induce translation repression or mRNA degradation (Garzon et al., 2006 [PubMed 16549775]).[supplied by OMIM] 19462682,19074828,18773208,16549775,12624257,16381832,17604727,17616659,20588024,19747919,19461655 406902 AC103702,AJ550394,NR_029608 MIRN10A|hsa-mir-10a|miRNA10A|mir-10a miscrna 1352164 MIR10B microRNA 10b MicroRNAs (miRNAs), such as MIRN10B, are 19- to 25-nucleotide noncoding RNAs that regulate gene expression by targeting mRNAs in a sequence-specific manner. Depending on the degree of complementarity between miRNAs and their targets, they can induce translation repression or mRNA degradation (Garzon et al., 2006 [PubMed 16549775]). MIRN10B is highly expressed in metastatic breast cancer cells and positively regulate cell migration and invasion (Ma et al., 2007 [PubMed 17898713]).[supplied by OMIM] 19536818,17898713,16549775,12624257,14573789,16381832,17604727,17616659,20732742,20889907,19780876,20075075 406903 AC009336,AJ550395,NR_029609 MIRN10B|hsa-mir-10b|miRNA10B|mir-10b miscrna 2312890 MIR1178 microRNA 1178 16381832,17922033 100302274 AC002563,NR_031589 MIRN1178|hsa-mir-1178 miscrna 2312909 MIR1179 microRNA 1179 16381832,17922033 100302235 AC013489,NR_031590 MIRN1179|hsa-mir-1179 miscrna 2312899 MIR1180 microRNA 1180 16381832,17922033,19508715 100302256 AC124066,NR_031591 MIRN1180|hsa-mir-1180 miscrna 2312924 MIR1181 microRNA 1181 16381832,17922033 100302213 AC011548,NR_031592 MIRN1181|hsa-mir-1181 miscrna 2312985 MIR1182 microRNA 1182 16381832,17922033 100302132 AL732414,NR_031593 MIRN1182|hsa-mir-1182 miscrna 2312993 MIR1183 microRNA 1183 16381832,17922033 100302122 CH236948,AC004595,NR_031594 MIRN1183|hsa-mir-1183 miscrna 2313001 MIR1184 microRNA 1184 16381832,17922033 100302111 BX842559,NR_036049,BX842564,BX890586,NG_005114 MIR1184|MIRN1184|hsa-mir-1184|hsa-mir-1184-1 miscrna 4108934 MIR1184-2 microRNA 1184-2 16381832,17922033 100422985 BX682237,NR_036259,NG_005114 miscrna 4109917 MIR1184-3 microRNA 1184-3 16381832,17922033 100422977 BX276110,NG_005114,NR_036260 miscrna 2312965 MIR1185-1 microRNA 1185-1 16381832,16954537,17922033 100302157 AL132709,NR_031575 MIRN1185-1|hsa-mir-1185-1 miscrna 2312928 MIR1185-2 microRNA 1185-2 16381832,16954537,17922033 100302209 AL132709,NR_031571 MIRN1185-2|hsa-mir-1185-2 miscrna 4109084 MIR1193 microRNA 1193 16381832,20300190 100422837 AL132709,NR_036132 miscrna 2312903 MIR1197 microRNA 1197 16381832,18230126 100302250 AL132709,NR_031713 MIRN1197|hsa-mir-1197 miscrna 2312999 MIR1200 microRNA 1200 16381832,17989717 100302113 CH236951,AC078844,NR_031604 MIRN1200|hsa-mir-1200 miscrna 2312923 MIR1201 microRNA 1201 16381832,17989717 100302216 AL355075,NR_031605 MIRN1201|hsa-mir-1201 miscrna 2312896 MIR1202 microRNA 1202 16381832,17989717 100302259 AL583861,NR_031606 MIRN1202|hsa-mir-1202 miscrna 2312926 MIR1203 microRNA 1203 16381832,17989717 100302211 AC006468,NR_031607 MIRN1203|hsa-mir-1203 miscrna 2312944 MIR1204 microRNA 1204 16381832,18314482 100302185 AC103819,NR_031609 hsa-mir-1204 miscrna 2312962 MIR1205 microRNA 1205 16381832,18314482 100302161 AC103705,NR_031610 MIRN1205|hsa-mir-1205 miscrna 2312956 MIR1206 microRNA 1206 16381832,18314482 100302170 AC103705,NR_031611 MIRN1206|hsa-mir-1206 miscrna 2312952 MIR1207 microRNA 1207 16381832,18314482 100302175 AC103705,NR_031612 MIRN1207|hsa-mir-1207 miscrna 2312886 MIR1208 microRNA 1208 16381832,18314482 100302281 AC007860,NR_031613 MIRN1208|hsa-mir-1208 miscrna 1347392 MIR122 microRNA 122 MicroRNAs (miRNAs), such as miRNA122, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 19607815,19296470,19122656,19021529,19020517,18692484,18550664,17919492,17616664,16924677,12007417,15978578,16381832,17604727,20395958,20889907,20427538,20351063,20561966,20124555,19403413,19584283,19617899,19846523,19891584,19917630,20625373,20637242 406906 AC105105,NR_029667 MIR122A|MIRN122|MIRN122A|hsa-mir-122|miRNA122|miRNA122A miscrna 2312874 MIR1224 microRNA 1224 MIRN1224 belongs to a subfamily of microRNAs (miRNAs), called mirtrons, that arise from short hairpin introns. Mirtrons differ from canonical miRNAs in that they use splicing rather than cleavage by Drosha (RNASEN; MIM 608828) to generate pre-miRNA hairpins. Upon release by the splicing machinery, mirtrons access the canonical miRNA pathway during nuclear export and are cleaved by Dicer (MIM 606241) for incorporation into silencing complexes (Berezikov et al., 2007 [PubMed 17964270]).[supplied by OMIM] 17964270,16381832,16954537 100187716 AC061705,NR_030410 MIRN1224 miscrna 2313002 MIR1225 microRNA 1225 MIRN1225 belongs to a subfamily of microRNAs (miRNAs), called mirtrons, that arise from short hairpin introns. Mirtrons differ from canonical miRNAs in that they use splicing rather than cleavage by Drosha (RNASEN; MIM 608828) to generate pre-miRNA hairpins. Upon release by the splicing machinery, mirtrons access the canonical miRNA pathway during nuclear export and are cleaved by Dicer (MIM 606241) for incorporation into silencing complexes (Berezikov et al., 2007 [PubMed 17964270]).[supplied by OMIM] 16381832,17964270 100188847 AC093513,NR_030646 MIRN1225 miscrna 2312911 MIR1226 microRNA 1226 16381832,17964270,20514397 100302232 AC139667,NR_031595 MIRN1226|hsa-mir-1226 miscrna 2312885 MIR1227 microRNA 1227 16381832,17964270 100302283 AC005263,NR_031596 MIRN1227|hsa-mir-1227 miscrna 2312934 MIR1228 microRNA 1228 16381832,17964270 100302201 AC137834,NR_031597 MIRN1228|hsa-mir-1228 miscrna 2312966 MIR1229 microRNA 1229 16381832,17964270 100302156 AC008393,NR_031598 MIRN1229|hsa-mir-1229 miscrna 2312964 MIR1231 microRNA 1231 16381832,17964270 100302158 AL645504,NR_031599 MIRN1231|hsa-mir-1231 miscrna 2312963 MIR1233 microRNA 1233 16381832,17964270 100302160 AC025678,NR_036050 MIR1233|MIRN1233|hsa-mir-1233|hsa-mir-1233-1 miscrna 4109058 MIR1233-2 microRNA 1233-2 16381832,17964270 100422845 AC027139,NR_036261 miscrna 2312938 MIR1234 microRNA 1234 16381832,17964270 100302196 AF205589,NR_031600 MIRN1234|hsa-mir-1234 miscrna 2312906 MIR1236 microRNA 1236 16381832,17964270 100302242 AL645922,NR_031601,AL662849,AL844853,BX005143,CR388219,CR753845,CR759782 MIRN1236|hsa-mir-1236 miscrna 2312887 MIR1237 microRNA 1237 16381832,17964270 100302280 AP003774,NR_031602 MIRN1237|hsa-mir-1237 miscrna 2312914 MIR1238 microRNA 1238 16381832,17964270 100302226 AC011461,NR_031603 MIRN1238|hsa-mir-1238 miscrna 1349266 MIR124-1 microRNA 124-1 MicroRNAs (miRNAs), such as miRNA124-1, constitute a large family of noncoding RNAs of approximately 22 nucleotides in length. They are important regulators of development and differentiation (Suh et al., 2004 [PubMed 15183728]).[supplied by OMIM] 19502795,19138993,18607543,18451139,15183728,21062284,12007417,12554860,15325244,16381832,17604727,19843643,19851984,19944075,20599952,20665740,20732906,20889907 406907 AC055869,NR_029668 MIR124A|MIR124A1|MIRN124-1|MIRN124A1 miscrna 1346807 MIR124-2 microRNA 124-2 12007417,12554860,15183728,15325244,16381832,17604727,19843643 406908 AC013492,NR_029669 MIRN124-2|MIRN124A2 miscrna 1342588 MIR124-3 microRNA 124-3 12007417,12554860,15183728,15325244,16381832,17604727,19843643 406909 AL096828,NR_029670 MIRN124-3|MIRN124A3 miscrna 2312942 MIR1243 microRNA 1243 16381832,18285502 100302188 AC093879,NR_031641 MIRN1243|hsa-mir-1243 miscrna 2312884 MIR1244 microRNA 1244 16381832,18285502 100302285 AC073476,NR_036052 MIR1244|MIRN1244|hsa-mir-1244|hsa-mir-1244-1 miscrna 4109945 MIR1244-2 microRNA 1244-2 16381832,18285502 100422885 AC008629,NR_036262 miscrna 4109946 MIR1244-3 microRNA 1244-3 16381832,18285502 100422872 AC010175,NR_036263 miscrna 2312921 MIR1245 microRNA 1245 16381832,18285502 100302219 AC066694,NR_031647 MIRN1245|hsa-mir-1245 miscrna 2312977 MIR1246 microRNA 1246 16381832,18285502 100302142 AC017048,NR_031648 MIRN1246|hsa-mir-1246 miscrna 2312974 MIR1247 microRNA 1247 16381832,18285502 100302145 AL049836,NR_031649 MIRN1247|hsa-mir-1247 miscrna 2312976 MIR1248 microRNA 1248 16381832,18285502 100302143 AC112907,NR_031650 MIRN1248|hsa-mir-1248 miscrna 2312970 MIR1249 microRNA 1249 16381832,18285502 100302149 AL008718,NR_031651 MIRN1249|hsa-mir-1249 miscrna 2312912 MIR1250 microRNA 1250 16381832,18285502 100302229 AC115099,NR_031652 MIRN1250|hsa-mir-1250 miscrna 2312883 MIR1251 microRNA 1251 16381832,18285502,18402656 100302289 AC007351,NR_031653 MIRN1251|hsa-mir-1251 miscrna 2974680 MIR1252 microRNA 1252 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302136 AC073570,NR_031700 MIRN1252|hsa-mir-1252 miscrna 2312929 MIR1253 microRNA 1253 16381832,18285502 100302208 AC005696,NR_031654 MIRN1253|hsa-mir-1253 miscrna 2946917 MIR1254 microRNA 1254 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302273 AL513534,NR_031655 MIRN1254|hsa-mir-1254 miscrna 2974669 MIR1255A microRNA 1255a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302193 AP001816,NR_031656 MIRN1255A|hsa-mir-1255a miscrna 3497336 MIR1255B1 microRNA 1255b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313806 AC112140,NR_031701 MIR1255B-1|MIRN1255B1 miscrna 3497331 MIR1255B2 microRNA 1255b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313835 CH236947,AL031287,NR_031702 MIR1255B-2|MIRN1255B2|hsa-mir-1255b-2 miscrna 2312967 MIR1256 microRNA 1256 16381832,18285502 100302155 AL627311,NR_031657 MIRN1256|hsa-mir-1256 miscrna 2312957 MIR1257 microRNA 1257 16381832,18285502 100302168 AL109911,NR_031658 MIRN1257|hsa-mir-1257 miscrna 2312955 MIR1258 microRNA 1258 16381832,18285502 100302172 AC092642,NR_031659 MIRN1258|hsa-mir-1258 miscrna 2312939 MIR1259 microRNA 1259 16381832,18285502 100302194 AL049766,NR_031660 MIRN1259|hsa-mir-1259 miscrna 1353053 MIR125A microRNA 125a MicroRNAs (miRNAs), such as MIRN125A, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]).[supplied by OMIM] 19048628,17400653,12007417,19411564,16381832,17604727,17616659,20665731,20569443,19702827,19818772,19875930,19881956,19950226 406910 AC018755,NR_029693 MIRN125A|miRNA125A miscrna 1352829 MIR125B1 microRNA 125b-1 MicroRNAs, such as MIRN125B1, are small noncoding RNAs that regulate target gene expression posttranscriptionally through basepairing with their target mRNAs (Lee et al., 2005 [PubMed 15722555]).[supplied by OMIM] 19471102,19048628,19047678,17622355,15722555,20347935,12007417,15800047,15978578,16381832,17604727,17616659,20158877,20306291,20889907,20485370,20460378 406911 AP001924,NR_029671 MIRN125B1 miscrna 1342678 MIR125B2 microRNA 125b-2 MicroRNAs, such as MIRN125B2, are small noncoding RNAs that regulate target gene expression posttranscriptionally through basepairing with their target mRNAs (Lee et al., 2005 [PubMed 15722555]).[supplied by OMIM] 19471102,19048628,15722555,20460378,12007417,15800047,15978578,16381832,17604727,17616659,20158877 406912 AP000962,NR_029694 MIRN125B2 miscrna 1348236 MIR126 microRNA 126 MicroRNAs (miRNAs) are approximately 22-nucleotide noncoding RNAs that inhibit translation of target mRNAs. They are involved in many biologic processes, including cell death, proliferation, and differentiation. The MIR126 precursor encodes 2 mature miRNAs, MIR126 and MIR126* (Zhang et al., 2008 [PubMed 18834857]).[supplied by OMIM] 19116145,18834857,18773208,18663744,18474618,18227515,18193184,20889907,21046227,18602365,12007417,16381832,17604727,20621067,20953557,19223090,20034472,20083669,20651284,20671229,20619534 406913 AL590226,NR_029695 MIRN126|miRNA126 miscrna 2312908 MIR1260 microRNA 1260 16381832,18285502 100302236 AC007375,NR_031661 MIRN1260|hsa-mir-1260 miscrna 4108921 MIR1260B microRNA 1260b 16381832,20300190 100422991 AP000848,NR_036125 miscrna 2312913 MIR1261 microRNA 1261 16381832,18285502 100302228 AP002782,NR_031663 MIRN1261|hsa-mir-1261 miscrna 2312888 MIR1262 microRNA 1262 16381832,18285502 100302279 AL513284,NR_031664 MIRN1262|hsa-mir-1262 miscrna 2312971 MIR1263 microRNA 1263 16381832,18285502 100302148 AC018457,NR_031665 MIRN1263|hsa-mir-1263 miscrna 2312902 MIR1264 microRNA 1264 16381832,16954537,18285502 100302251 AC007025,NR_031563 MIRN1264|hsa-mir-1264 miscrna 2312997 MIR1265 microRNA 1265 16381832,18285502 100302116 AL139405,NR_031668 MIRN1265|hsa-mir-1265 miscrna 2312933 MIR1266 microRNA 1266 16381832,18285502 100302202 AC010674,NR_031670 MIRN1266|hsa-mir-1266 miscrna 2946910 MIR1267 microRNA 1267 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302286 AL445649,NR_031671 MIRN1267|hsa-mir-1267 miscrna 2946923 MIR1268 microRNA 1268 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302233 AC025884,NR_031672 MIRN1268|hsa-mir-1268 miscrna 2312951 MIR1269 microRNA 1269 16381832,18285502 100302177 AC110809,NR_031673 MIRN1269|hsa-mir-1269 miscrna 1344992 MIR127 microRNA 127 MicroRNAs (miRNAs), such as MIRN127, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 19287466,15891114,20889907,12007417,16381832,17604727,18230126,19530237,19946636 406914 AL117190,NR_029696 MIRN127|miRNA127 miscrna 2312949 MIR1270 microRNA 1270 16381832,18285502 100302179 AC078899,NR_036053 MIR1270|MIRN1270|hsa-mir-1270|hsa-mir-1270-1 miscrna 4108873 MIR1270-2 microRNA 1270-2 16381832,18285502 100423024 AC008554,NR_036264 miscrna 2946927 MIR1271 microRNA 1271 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,16954537,18285502,19508715 100302203 AC138956,NR_031569 MIRN1271|hsa-mir-1271 miscrna 2312945 MIR1272 microRNA 1272 16381832,18285502 100302184 AC091582,NR_031674 MIRN1272|hsa-mir-1272 miscrna 2974677 MIR1273 microRNA 1273 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302165 AC021590,NR_031675,CH236949 MIRN1273|hsa-mir-1273 miscrna 4109081 MIR1273C microRNA 1273c 16381832,20300190,20224791 100422821 AL121952,NR_036100 miscrna 4108940 MIR1273D microRNA 1273d 16381832,20300190 100422970 AL358013,NR_036176 miscrna 3497337 MIR1274A microRNA 1274a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313805 AC020940,NR_031676 MIRN1274A miscrna 3476303 MIR1274B microRNA 1274b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313903 AC003005,NR_031693 MIRN1274B miscrna 2312992 MIR1275 microRNA 1275 16381832,18285502 100302123 AL589941,NR_031681 MIRN1275|hsa-mir-1275 miscrna 2312994 MIR1276 microRNA 1276 16381832,18285502 100302121 AC021739,NR_031682 MIRN1276|hsa-mir-1276 miscrna 2946926 MIR1277 microRNA 1277 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302214 AL391803,NR_031685 MIRN1277|hsa-mir-1277 miscrna 2312960 MIR1278 microRNA 1278 16381832,18285502 100302163 AL390863,NR_031691 MIRN1278|hsa-mir-1278 miscrna 2312947 MIR1279 microRNA 1279 16381832,18285502 100302182 AC020656,NR_031692 MIRN1279|hsa-mir-1279 miscrna 1343624 MIR128-1 microRNA 128-1 MicroRNAs (miRNAs), such as MIRN128-1, are small noncoding RNAs that play regulatory roles in development, cell proliferation, differentiation, and apoptosis (Mi et al., 2007 [PubMed 18056805]).[supplied by OMIM] 19048628,18381601,18056805,12007417,15325244,16381832,17604727,19713529,19955085,20889907 406915 AC016742,NR_029672 MIR128A|MIRN128-1|MIRN128A microrna 128a miscrna 1347002 MIR128-2 microRNA 128-2 MicroRNAs (miRNAs), such as MIRN128-2, are small noncoding RNAs that play regulatory roles in development, cell proliferation, differentiation, and apoptosis (Mi et al., 2007 [PubMed 18056805]).[supplied by OMIM] 19048628,18056805,12624257,12007417,16381832,17604727,19713529,19749093 406916 AC016943,AJ550404,NR_029824 MIR128B|MIRN128-2|MIRN128B|mir-128b microrna 128b miscrna 2312935 MIR1280 microRNA 1280 16381832,18285502 100302200 AL449210,NR_031703 MIRN1280|hsa-mir-1280 miscrna 2312907 MIR1281 microRNA 1281 16381832,18285502 100302237 AL080243,NR_031694 MIRN1281|hsa-mir-1281 miscrna 2312901 MIR1282 microRNA 1282 16381832,18285502 100302254 AC018512,NR_031695 MIRN1282|hsa-mir-1282 miscrna 2312892 MIR1283-1 microRNA 1283-1 16381832,16954537,18285502 100302265 AC011453,NR_031573 MIRN1283-1|hsa-mir-1283-1 miscrna 2312932 MIR1283-2 microRNA 1283-2 16381832,18285502 100302205 AC011453,NR_031696 MIRN1283-2|hsa-mir-1283-2 miscrna 2313000 MIR1284 microRNA 1284 16381832,18285502 100302112 AC097634,NR_031697 MIRN1284|hsa-mir-1284 miscrna 2946925 MIR1285-1 microRNA 1285-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302218 AC000120,NR_031616 MIRN1285-1|hsa-mir-1285-1 miscrna 2946916 MIR1285-2 microRNA 1285-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302268 AC016700,NR_031617 MIRN1285-2|hsa-mir-1285-2 miscrna 2312996 MIR1286 microRNA 1286 16381832,18285502 100302118 AC007663,NR_031618 MIRN1286|hsa-mir-1286 miscrna 2312984 MIR1287 microRNA 1287 16381832,18285502,19508715 100302133 AL139243,NR_031619 MIRN1287|hsa-mir-1287 miscrna 2312991 MIR1288 microRNA 1288 16381832,18285502 100302124 AC005971,NR_031698 MIRN1288|hsa-mir-1288 miscrna 2312990 MIR1289-1 microRNA 1289-1 16381832,18285502 100302125 AL121586,NR_031620 MIRN1289-1|hsa-mir-1289-1 miscrna 2312983 MIR1289-2 microRNA 1289-2 16381832,18285502 100302134 AC010608,NR_031621 MIRN1289-2|hsa-mir-1289-2 miscrna 1350855 MIR129-1 microRNA 129-1 19487295,12007417,12554859,16381832,17604727 406917 AC018662,CH236947,AJ560751,NR_029596 MIR-129b|MIRN129-1 miscrna 1347371 MIR129-2 microRNA 129-2 12624257,12007417,12554859,16381832,17604727,19887623,20331975,20404570 406918 AC068205,AJ550405,NR_029697 MIR-129b|MIRN129-2|mir-129-2 miscrna 2946915 MIR1290 microRNA 1290 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302276 AL080251,NR_031622 MIRN1290|hsa-mir-1290 miscrna 2312919 MIR1291 microRNA 1291 16381832,18285502 100302221 AC079951,NR_031623 MIRN1291|hsa-mir-1291 miscrna 2312981 MIR1292 microRNA 1292 16381832,18285502 100302138 AL049712,NR_031699 MIRN1292|hsa-mir-1292 miscrna 2312920 MIR1293 microRNA 1293 16381832,18285502 100302220 AC008147,NR_031625 MIRN1293|hsa-mir-1293 miscrna 2312948 MIR1294 microRNA 1294 16381832,18285502 100302181 AC008625,NR_031626 MIRN1294|hsa-mir-1294 miscrna 2312950 MIR1295 microRNA 1295 16381832,18285502 100302178 AL021026,NR_031627 MIRN1295|hsa-mir-1295 miscrna 2312969 MIR1296 microRNA 1296 16381832,16954537,18285502,19508715 100302150 AC022022,NR_031566 MIRN1296|hsa-mir-1296 miscrna 2312943 MIR1297 microRNA 1297 16381832,18285502 100302187 AL512509,NR_031628 MIRN1297|hsa-mir-1297 miscrna 2312968 MIR1298 microRNA 1298 16381832,16954537,18285502 100302153 AC004822,NR_031578 MIRN1298|hsa-mir-1298 miscrna 2974676 MIR1299 microRNA 1299 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302167 AL353763,NR_031629 MIRN1299|hsa-mir-1299 miscrna 2312931 MIR1300 microRNA 1300 100302206 MIRN1300|hsa-mir-1300 miscrna 2312905 MIR1301 microRNA 1301 16381832,16954537,18285502,19144710,19508715 100302246 AC012074,NR_031570 MIRN1301|hsa-mir-1301 miscrna 2946924 MIR1302-1 microRNA 1302-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302227 AC004104,NR_031631 MIRN1302-1|hsa-mir-1302-1 miscrna 4109070 MIR1302-10 microRNA 1302-10 16381832,18285502 100422834 AC140725,NR_036267 miscrna 4108988 MIR1302-11 microRNA 1302-11 16381832,18285502 100422919 AC008993,NR_036268 miscrna 2312889 MIR1302-2 microRNA 1302-2 16381832,18285502 100302278 AL627309,NR_036051 MIRN1302-2|hsa-mir-1302-2 miscrna 2312987 MIR1302-3 microRNA 1302-3 16381832,18285502 100302128 AL078621,NR_031632 MIRN1302-3|hsa-mir-1302-3 miscrna 2974683 MIR1302-4 microRNA 1302-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302130 AC007879,NR_031633 MIRN1302-4|hsa-mir-1302-4 miscrna 2312973 MIR1302-5 microRNA 1302-5 16381832,18285502 100302146 AL133230,NR_031634 MIRN1302-5|hsa-mir-1302-5 miscrna 2312979 MIR1302-6 microRNA 1302-6 16381832,18285502 100302140 AC005249,NR_031635,CH236948 MIRN1302-6|hsa-mir-1302-6 miscrna 2312972 MIR1302-7 microRNA 1302-7 16381832,18285502 100302147 AC144407,NR_031636 MIRN1302-7|hsa-mir-1302-7 miscrna 2312917 MIR1302-8 microRNA 1302-8 16381832,18285502 100302223 AL512590,NR_031637 MIRN1302-8|hsa-mir-1302-8 miscrna 4109072 MIR1302-9 microRNA 1302-9 16381832,18285502 100422831 AL928970,NR_036266 miscrna 2946912 MIR1303 microRNA 1303 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302284 AC008379,NR_031638 MIRN1303|hsa-mir-1303 miscrna 2946920 MIR1304 microRNA 1304 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302240 AP001273,NR_031639 MIRN1304|hsa-mir-1304 miscrna 2312891 MIR1305 microRNA 1305 16381832,18285502 100302270 AC108142,NR_031640 MIRN1305|hsa-mir-1305 miscrna 2312937 MIR1306 microRNA 1306 16381832,18285502 100302197 AC006547,NR_031706 MIRN1306|hsa-mir-1306 miscrna 2312953 MIR1307 microRNA 1307 16381832,18285502,19144710 100302174 AL591408,NR_031707 MIRN1307|hsa-mir-1307 miscrna 2946919 MIR1308 microRNA 1308 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302266 NR_031704,Y10196 MIRN1308|hsa-mir-1308 miscrna 1347329 MIR130A microRNA 130a MicroRNAs (miRNAs), such as MIRN130A, are 19- to 25-nucleotide noncoding RNAs that regulate gene expression by targeting mRNAs in a sequence-specific manner. Depending on the degree of complementarity between miRNAs and their targets, they can induce translation repression or mRNA degradation (Garzon et al., 2006 [PubMed 16549775]).[supplied by OMIM] 16549775,20625274,12007417,15183728,16381832,17604727,17616659 406919 AP000662,NR_029673 MIRN130A|miRNA130A miscrna 1344051 MIR130B microRNA 130b 12624257,12919684,15634332,15800047,16381832,17604727,17616659,17573714,18974142 406920 AP000553,AJ550406,NR_029845 MIRN130B|mir-130b miscrna 1346883 MIR132 microRNA 132 MicroRNAs (miRNAs) are small noncoding RNAs that regulate the stability or translation of their target mRNAs. MIRN132 is a light-inducible gene that plays a role in regulating the circadian timing process (Cheng et al., 2007 [PubMed 17553428]).[supplied by OMIM] 12007417,16381832,17604727,17616659,18759964,18577589,17553428,20418869,19819989,20167074,20676106 406921 AC090617,NR_029674 MIRN132|miRNA132 miscrna 2974674 MIR1321 microRNA 1321 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18230126 100302171 AL022401,NR_031710 MIRN1321|hsa-mir-1321 miscrna 2312958 MIR1322 microRNA 1322 16381832,18230126 100302166 AC011008,NR_031711 MIRN1322|hsa-mir-1322 miscrna 2312900 MIR1323 microRNA 1323 16381832,16954537,18230126 100302255 AC011453,NR_031568 MIRN1323|hsa-mir-1323 miscrna 2312925 MIR1324 microRNA 1324 16381832,18230126 100302212 AC108724,NR_031714 MIRN1324|hsa-mir-1324 miscrna 1352770 MIR133A1 microRNA 133a-1 MicroRNAs (miRNAs) are small noncoding RNAs involved in regulation of gene expression. Two distinct miRNA133A genes, MIRN133A1 and MIRN133A2 (MIM 610255), are expressed predominantly in muscle and encode the same mature miRNA (Sempere et al., 2004; Rao et al., 2006 [PubMed 16731620]).[supplied by OMIM] 12007417,16381832,17604727,16731620,20520763,20075508,20468068 406922 AC103987,NR_029675 MIRN133A1 miscrna 1343982 MIR133A2 microRNA 133a-2 MicroRNAs (miRNAs) are small noncoding RNAs involved in regulation of gene expression. Two distinct miRNA133A genes, MIRN133A1 (MIM 610254) and MIRN133A2, are expressed predominantly in muscle and encode the same mature miRNA (Sempere et al., 2004; Rao et al., 2006 [PubMed 16731620]).[supplied by OMIM] 20889907,12007417,16381832,17604727,16731620,20075508,20468068 406923 AL449263,NR_029676 MIRN133A2 miscrna 1352188 MIR133B microRNA 133b MicroRNAs (miRNAs), such as MIRN133B, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 19654003,20075508,20468068,16381832,17604727,17761882,12624257,20029200 442890 NR_029903,AL391221,AJ550407 MIRN133B|miRNA133B|mir-133b miscrna 1347046 MIR134 microRNA 134 12007417,15183728,15891114,16381832,17604727,16421561 406924 AL132709,NR_029698 MIRN134 miscrna 1349234 MIR135A1 microRNA 135a-1 12007417,15183728,16381832,17604727,18632633,19666866,19944075 406925 AC092045,NR_029677 MIRN135-1|MIRN135A1 miscrna 1348256 MIR135A2 microRNA 135a-2 12007417,15183728,16381832,17604727 406926 AC018659,NR_029678 MIRN135-2|MIRN135A2 miscrna 1349548 MIR135B microRNA 135b 14691248,15634332,16381832,17604727,17616659,12624257,19795981 442891 AC098936,AJ550408,NR_029893 MIRN135B miscrna 1349910 MIR136 microRNA 136 MicroRNAs (miRNAs), such as MIRN136, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 12007417,15183728,16381832,17604727,15891114 406927 AL117190,NR_029699 MIRN136|miRNA136 miscrna 1345919 MIR137 microRNA 137 12007417,16381832,17604727,18695884,18316599,20197299 406928 AC104453,NR_029679 MIRN137 miscrna 1354224 MIR138-1 microRNA 138-1 16381832,17604727,17616659,19540661 406929 AC006058,NR_029700 MIRN138-1 miscrna 1350565 MIR138-2 microRNA 138-2 12007417,16381832,17604727,17616659,19540661 406930 AC012181,NR_029680 MIRN138-2 miscrna 1354349 MIR139 microRNA 139 12007417,16381832,17604727,20951699,20167074,20889907 406931 AP003065,NR_029603 MIRN139 miscrna 1353953 MIR140 microRNA 140 MicroRNAs (miRNAs), such as MIRN140, are noncoding RNAs of 20 to 24 nucleotides that posttranscriptionally regulate gene expression (Tuddenham et al., 2006 [PubMed 16828749]).[supplied by OMIM] 12007417,15800047,16381832,17604727,17616659,16828749,19714579,19734943,19948051,19950226,20167074,20358594 406932 AC026468,NR_029681 MIRN140|miRNA140 miscrna 1345345 MIR141 microRNA 141 MicroRNAs (miRNAs), such as MIRN141, are 20- to 22-nucleotide noncoding RNAs that inhibit gene expression at the posttranscriptional level by binding to complementary sequences in the 3-prime UTRs of target mRNAs (Park et al., 2008 [PubMed 18381893]).[supplied by OMIM] 19363643,18381893,12007417,14573789,16381832,17604727,17616659,19830559,20514023,20053927,20084174 406933 U47924,NR_029682 MIRN141 miscrna 1342882 MIR142 microRNA 142 17972953,12007417,14573789,15325244,16381832,17604727,20856265 406934 AC004687,AJ535836,NR_029683 MIRN142 miscrna 1346221 MIR143 microRNA 143 MicroRNAs (miRNA) are single-stranded RNAs of about 22 nucleotides that direct posttranscriptional gene silencing through sequence-specific mRNA cleavage or translational repression (Lui et al., 2007 [PubMed 17616659]).[supplied by OMIM] 19472311,19439999,19242066,19190970,19137007,17616659,15504739,12007417,14573789,16381832,17604727,20158877,20620599,20363096,20094072,19638978,19855844,20167074,20525177 406935 AC131025,AJ535834,NR_029684 MIRN143 miscrna 1350288 MIR144 microRNA 144 MicroRNAs (miRNAs), such as MIRN144, are noncoding RNAs of about 22 nucleotides that bind complementary sequences in the 3-prime UTRs of target mRNAs to induce nucleolytic degradation or inhibit translation. The primary miRNA transcript (pri-miRNA) that encodes MIRN144 also encodes MIRN451 (MIM 612071) (Dore et al., 2008 [PubMed 18303114]).[supplied by OMIM] 12007417,16381832,17604727,18303114,20709907 406936 AC024267,NR_029685 MIRN144 miscrna 1353686 MIR145 microRNA 145 MicroRNAs (miRNAs), such as MIRN145, are short noncoding RNAs that arise from 1 arm of a longer hairpin transcript. miRNAs influence gene expression by binding to complementary sequences in target mRNAs and either inhibiting translation or cleaving the mRNA (Shi et al., 2007 [PubMed 17827156]).[supplied by OMIM] 19439999,19409607,19391107,19360360,19289845,19242066,17827156,12007417,14573789,15978578,16381832,17604727,20588276,20094072,20370992,20717966,19493678,19843336,19898489,19915607,19996288,20098684,20130213,20160723,20230625,20382729,19730444,20818426,20525177,20687965,20889907 406937 AC131025,AJ535835,NR_029686 MIRN145|miR-145|miRNA145 miscrna 2312998 MIR1468 microRNA 1468 20640596,16381832,16954537,18402656,20845080 100302115 AL451106,NR_031567 MIRN1468|hsa-mir-1468 miscrna 2312897 MIR1469 microRNA 1469 16381832,18402656 100302258 AC016251,NR_031715 MIRN1469|hsa-mir-1469 miscrna 1344673 MIR146A microRNA 146a MicroRNAs (miRNAs), such as MIRN146A, are an evolutionarily conserved class of endogenous 22-nucleotide noncoding RNAs involved in posttranscriptional gene repression. In animals, miRNAs are processed from long primary transcripts through a 60-bp hairpin precursor step into mature forms by sequential cutting with 2 RNase III enzymes, Drosha (RNASEN; MIM 608828) and Dicer (MIM 606241). Mature miRNAs are then loaded onto the ribonucleoprotein complex dubbed RISC (RNA-induced silencing complex), where they guide recognition and translational repression or degradation of target mRNAs (Taganov et al., 2006 [PubMed 16885212]).[supplied by OMIM] 12007417,15800047,16381832,17604727,20181935,17622355,16885212,19514064,19333945,19333922,19190326,19167348,19164563,19138993,19048628,19014482,18801740,18759964,18711148,18660546,18568019,18474871,18390754,18383392,18057241,20542134,20585341,20653068,20680470,20721625,20577838,20214679,20375304,20451497,16365291,19411858,19540598,19840932,19847796,19881472,19898489,19902466,19944095,19954362,19965651,20011700,20053980,20110513,20124483,20188071,20384865,20488170,20500689,20549817,20195282,20417706,20525168,20937840,20732906,20810544,20842445,20848167,21073609 406938 AC091842,NR_029701 MIRN146|MIRN146A|miR-146a|miRNA146A microrna 146 miscrna 1603775 MIR146B microRNA 146b MicroRNAs (miRNAs), such as MIRN146B, are an evolutionarily conserved class of endogenous 22-nucleotide noncoding RNAs involved in posttranscriptional gene repression. In animals, miRNAs are processed from long primary transcripts through a 60-bp hairpin precursor step into mature forms by sequential cutting with 2 RNase III enzymes, Drosha (RNASEN; MIM 608828) and Dicer (MIM 606241). Mature miRNAs are then loaded onto the ribonucleoprotein complex dubbed RISC (RNA-induced silencing complex), where they guide recognition and translational repression or degradation of target mRNAs (Taganov et al., 2006 [PubMed 16885212]).[supplied by OMIM] 19584273,19265686,19190326,16885212,15965474,16381832,17604727,20406109,18504431,20874002 574447 NR_030169,AL121928,AY882276 MIRN146B|miRNA146B miscrna 1347864 MIR147 microRNA 147 12007417,16381832 406939 AL592549,NR_029604 MIRN147 miscrna 2312988 MIR1470 microRNA 1470 16381832,18402656 100302127 AC011492,NR_031716 MIRN1470|hsa-mir-1470 miscrna 2312989 MIR1471 microRNA 1471 16381832,18402656 100302126 AC013435,NR_031717 MIRN1471|hsa-mir-1471 miscrna 2290243 MIR147B microRNA 147b 16381832,17604727 100126311 AC025580,NR_030599 MIRN147B miscrna 1346027 MIR148A microRNA 148a 12007417,15978578,16381832,17604727,20406806,20644734 406940 AC010719,NR_029597,CH236948 MIRN148|MIRN148A|hsa-mir-148 miscrna 1351245 MIR148B microRNA 148b 14691248,15634332,16381832,17604727,17616659,12624257 442892 AC078778,AJ550409,NR_029894 MIRN148B|mir-148b miscrna 1342659 MIR149 microRNA 149 19514064,12007417,16381832,17604727,17616659,20623644,19881472,19950226,20549817 406941 AC110619,NR_029702 MIRN149 miscrna 1342949 MIR150 microRNA 150 MicroRNAs (miRNAs), such as MIRN150, are 20- to 24-nucleotide noncoding RNAs found in animals and plants. These small RNAs regulate gene expression at the translational level through interactions with their target mRNAs. MIRN150 is a hematopoietic cell-specific miRNA (Zhou et al., 2007 [PubMed 17438277]).[supplied by OMIM] 18682393,18667440,17438277,20603081,12007417,16381832,17604727,20218812,19615744,19823581,20067763,20075508 406942 AC010619,NR_029703 MIRN150|miRNA150 miscrna 1345628 MIR151 microRNA 151 14691248,15634332,15978578,16381832,17604727,17616659,17599088,20305651 442893 AC105235,NR_029892 MIRN151|hsa-mir-151 miscrna 1347166 MIR153-1 microRNA 153-1 12007417,16381832,17604727 406944 AC114803,NR_029688 MIRN153-1 miscrna 1352876 MIR153-2 microRNA 153-2 12007417,16381832,17604727,20889907 406945 AC006372,CH236954,NR_029689 MIRN153-2 miscrna 2312980 MIR1537 microRNA 1537 16381832,18524951,20300190 100302139 AL133286,NR_031718 MIRN1537|hsa-mir-1537 miscrna 2312995 MIR1538 microRNA 1538 16381832,18524951 100302119 AC009032,NR_031719 MIRN1538|hsa-mir-1538 miscrna 2312898 MIR1539 microRNA 1539 16381832,18524951 100302257 AC100778,NR_031720 MIRN1539|hsa-mir-1539 miscrna 1343557 MIR154 microRNA 154 12007417,15183728,15891114,16381832,17604727,20167074,20889907 406946 AL132709,NR_029704 MIRN154 miscrna 2299183 MIR155 microRNA 155 MicroRNAs (miRNAs), such as miRNA155, are endogenous noncoding RNAs of about 22 nucleotides that regulate mRNAs by targeting them for cleavage or translational repression. The primary miRNA transcript containing the mature miRNA155 sequence, pri-miRNA155, is also referred to as BIC (Kluiver et al., 2005 [PubMed 16041695]).[supplied by OMIM] 19386588,19289845,19234151,19193853,19106647,18940871,18926796,18759964,18753206,18383392,18354490,18191785,18048365,17668390,17588946,16675453,16252262,16041695,15738415,14695998,20889907,20370992,12007417,15325244,15634332,16381832,17604727,17616659,17989717,20332664,20427544,20950585,19268705,19446359,19538740,19551852,19578755,19641183,19701459,19777054,19887047,19890474,19897480,19954362,20041145,20133617,20201617,20219467,20351277,20354188,20371610,20452491,20209161,20844043,20673989 406947 AP000223,NR_030784 MIRN155|miRNA155 miscrna 1350378 MIR155HG MIR155 host gene (non-protein coding) MicroRNAs (miRNAs), such as miRNA155, are endogenous noncoding RNAs of about 22 nucleotides that regulate mRNAs by targeting them for cleavage or translational repression. The primary miRNA transcript containing the mature miRNA155 sequence, pri-miRNA155, is also referred to as BIC (Kluiver et al., 2005 [PubMed 16041695]).[supplied by OMIM] 18676680,18354490,18048365,16252262,16041695,15738415,14695998,12661002,12426003,11675008,18383392,18191785,17668390,17588946,16675453,19170196,19625176,19692168 114614 NR_001458,AL109616,AP000223,AP001693,AA810953,AF402776,BG231961,CT000653 Hs.697120 BIC|MIRHG2|NCRNA00172 miscrna 1354361 MIR15A microRNA 15a MicroRNAs (miRNAs), such as miRNA15, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 19549910,19401561,19347735,19148136,18818396,18449891,18362358,16166262,11679670,20621999,12434020,12554860,15325244,16381832,17604727,17616659,18708755,19779621,19883312,19903841,20031211,20060366,19498445 406948 AL137060,AJ421733,NR_029485 MIRN15A|hsa-mir-15a|miRNA15A miscrna 1343014 MIR15B microRNA 15b 19135980,12007417,12554860,14573789,16381832,17604727,17616659,19956871 406949 AC024221,AJ535833,NR_029663 MIRN15B|hsa-mir-15b|miR-15b miscrna 1346096 MIR16-1 microRNA 16-1 MicroRNAs (miRNAs), such as miRNA16, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 19401561,19347735,19148136,19144909,18854308,18759964,18483394,18449891,18362358,16166262,11679670,11914277,12434020,12624257,14573789,15183728,15325244,16381832,17604727,17616659,18708755,19250063,19779621,19865490,19883312,20060366,19498445,20621999 406950 AL137060,AF480551,AJ421734,NR_029486 MIRN16-1|miRNA16-1 miscrna 1342848 MIR16-2 microRNA 16-2 11679670,11914277,12624257,14573789,15183728,15325244,16381832,17604727,17616659,20309880 406951 AC024221,AF480520,AF480552,AJ550396,NR_029525 MIRN16-2|mir-16-3 miscrna 1348634 MIR17 microRNA 17 MicroRNAs (miRNAs) are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs. The miRNA17 precursor encodes 2 mature miRNAs, miRNA91 and miRNA17, from its 5-prime and 3-prime ends, respectively (Lagos-Quintana et al., 2001 [PubMed 11679670]; Mourelatos et al., 2002 [PubMed 11914277]).[supplied by OMIM] 20878079,21040528,19347736,19287466,19158830,19066217,19048628,18941111,18836483,18773208,18700987,18695042,18688024,18644370,18632605,18327259,17284533,16940181,15944709,15944707,11914277,11679670,20349219,19821056,20810544,12554860,15183728,15325244,15978578,16381832,17604727,17616659,19633662,19672269,19949084,20022054,20089119,20148420,20209605,20406904,20656682,20711463 406952 AL162375,AJ421735,AF480529,AF480562,NR_029487 MIR17-5p|MIR91|MIRN17|MIRN91|hsa-mir-17|miR-17|miR17-3p|miRNA17|miRNA91 miscrna 1604139 MIR17HG MIR17 host gene (non-protein coding) 20008935,17210683,16266980,16077067,15944709,15944707,15126345,14702039,12477932,11991713,19597473,19696742,20300951,20305691,20167088 407975 NR_027349,NR_027350,AL138714,AL162375,AB176707,AB176708,AF339828,AK024240,BC040320 Hs.24115,Hs.652877 C13orf25|FLJ14178|MGC126270|MIHG1|MIRH1|MIRHG1|NCRNA00048|miR-17-92 miscrna 1351132 MIR181A1 microRNA 181a-1 MicroRNAs (miRNAs), such as MIR181A, are short noncoding RNAs that repress translation or induce cleavage of target mRNAs with which they interact (Ciafre et al., 2005 [PubMed 16039986]). Two distinct genes, MIR181A1 and MIR181A2 (MIM 612743), encode the same mature MIR181A miRNA.[supplied by OMIM] 21159845,12554860,15634332,16381832,17604727,17616659,17989717,19273599,16039986,12624257,20363096,19883312,20204284 406995 AL136321,AJ550416,NR_029626 MIR213|MIRN181A1|MIRN213|hsa-mir-181a-1|mir-213 microrna 213 miscrna 1344915 MIR181A2 microRNA 181a-2 MicroRNAs (miRNAs), such as MIR181A, are short noncoding RNAs that repress translation or induce cleavage of target mRNAs with which they interact (Ciafre et al., 2005 [PubMed 16039986]). Two distinct genes, MIR181A1 (MIM 612742) and MIR181A2, encode the same mature MIR181A miRNA.[supplied by OMIM] 19221487,16039986,12554860,12624257,15634332,16381832,17604727,17616659,17989717,20576283 406954 AL158075,NR_029611 MIRN181A|MIRN181A2|hsa-mir-181a-2 microrna 181a miscrna 2922954 MIR181A2HG MIR181A2 host gene (non-protein coding) 15364906,8889548 100379345 BM716898 Hs.660412 miscrna 1351688 MIR181B1 microRNA 181b-1 MicroRNAs (miRNAs), such as MIR181B, are short noncoding RNAs that repress translation or induce cleavage of target mRNAs with which they interact (Ciafre et al., 2005 [PubMed 16039986]). Two distinct genes, MIR181B1 and MIR181B2 (MIM 612745), encode the same mature MIR181B miRNA.[supplied by OMIM] 19547998,16039986,12624257,15634332,15800047,16381832,17604727,17616659,20347265,20596961,20797623 406955 AL136321,NR_029612 MIRN181B1 miscrna 1349974 MIR181B2 microRNA 181b-2 MicroRNAs (miRNAs), such as MIR181B, are short noncoding RNAs that repress translation or induce cleavage of target mRNAs with which they interact (Ciafre et al., 2005 [PubMed 16039986]). Two distinct genes, MIR181B1 (MIM 612744) and MIR181B2, encode the same mature MIR181B miRNA.[supplied by OMIM] 19547998,16039986,20596961,12624257,15634332,15800047,16381832,17604727,17616659,20347265 406956 AL158075,NR_029782 MIRN181B2 miscrna 1350100 MIR181C microRNA 181c MicroRNAs (miRNAs), such as MIR181C, are short noncoding RNAs that repress translation or induce cleavage of target mRNAs with which they interact (Ciafre et al., 2005 [PubMed 16039986]).[supplied by OMIM] 16039986,12624257,16381832,17604727,20080834 406957 AC020916,AJ550411,NR_029613 MIRN181C|mir-181c miscrna 1603765 MIR181D microRNA 181d 15965474,16381832,17604727 574457 AY785944,NR_030179,AC020916 MIRN181D miscrna 1346166 MIR182 microRNA 182 MicroRNAs (miRNAs), such as MIRN182, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIRN183 (MIM 611608), MIRN96 (MIM 611606), and MIRN182 are transcribed in tandem as a single polycistronic primary transcript (Xu et al., 2007 [PubMed 17597072]).[supplied by OMIM] 19188590,17597072,12624257,16381832,17604727,17616659,20472885,20420807,20370992,20656788,19574223 406958 AC084864,CH236950,NG_023385,NR_029614 MIRN182|miRNA182 miscrna 2312946 MIR1825 microRNA 1825 16381832,18392026 100302183 AL121897,NR_031726 MIRN1825|hsa-mir-1825 miscrna 2312961 MIR1826 microRNA 1826 16381832,18392026 100302162 AC136932,NR_031727 MIRN1826|hsa-mir-1826 miscrna 2312922 MIR1827 microRNA 1827 16381832,18392026 100302217 AC010203,NR_031728 MIRN1827|hsa-mir-1827 miscrna 1342756 MIR183 microRNA 183 MicroRNAs (miRNAs), such as MIRN183, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIRN183, MIRN96 (MIM 611606), and MIRN182 (MIM 611607) are transcribed in tandem as a single polycistronic primary transcript (Xu et al., 2007 [PubMed 17597072]).[supplied by OMIM] 18840437,17597072,12554860,12624257,16381832,17604727,17616659,19940135,20186779 406959 AC084864,AY194163,NR_029615,CH236950,NG_023385 MIRN183|miR-183|miRNA183 miscrna 1351164 MIR184 microRNA 184 20409325,19033458,18451220,12554860,19286996,12554859,16381832,17604727,20889907 406960 AC069082,AY194164,NR_029705 MIRN184|miR-184 miscrna 1347667 MIR185 microRNA 185 12554859,15800047,16381832,17604727,17616659,20158877,12554860,20603620,19688090,20167074,20889907 406961 AC005663,AY194165,NR_029706 MIRN185|miR-185 miscrna 1346900 MIR186 microRNA 186 16381832,17604727,17616659,18682393,12554860,12554859,20075508 406962 AL512443,AJ560752,AY194166,NR_029707 MIRN186|miR-186 miscrna 1343777 MIR187 microRNA 187 MicroRNAs (miRNAs), such as MIR187, are members of a large family of 20- to 24-nucleotide single-stranded noncoding RNAs that are thought to modulate gene expression by partially basepairing with target mRNA sequences (Dostie et al., 2003 [PubMed 12554860]).[supplied by OMIM] 12624257,16381832,17604727,12554860 406963 AC118757,AY194167,NR_029616 MIRN187|miR-187|miRNA187 miscrna 1352314 MIR188 microRNA 188 12554859,16381832,17604727,18230126,12554860,20167074 406964 AF222686,AY194168,NR_029708 MIRN188|miR-188 miscrna 1350945 MIR18A microRNA 18a 15325244,15978578,16381832,17604727,17616659,19203451,19372139,19233176,19027010,17558416,11914277,11679670,18632605,19684618 406953 AF480553,AL162375,AF480521,AJ421736,NR_029488 MIR18|MIRN18|MIRN18A|hsa-mir-18|hsa-mir-18a|miR-18|miRNA18A microrna 18 miscrna 1604873 MIR18B microRNA 18b 15944709,16381832,17604727,19684618 574033 AC002407,NR_029949 MIRN18B|hsa-mir-18b miscrna 1347802 MIR190 microRNA 190 12554859,16381832,17604727,12554860 406965 AC103740,AY194170,NR_029709 MIRN190|miR-190 miscrna 2312893 MIR1908 microRNA 1908 20224791,16381832,18583537,19508715 100302263 AP002380,NR_031729 MIRN1908|hsa-mir-1908 miscrna 2312927 MIR1909 microRNA 1909 16381832,18583537 100302210 AC012615,NR_031730 MIRN1909|hsa-mir-1909 miscrna 2290210 MIR190B microRNA 190b 16381832,17604727 100126346 AL590431,NR_030600 MIRN190B miscrna 1345210 MIR191 microRNA 191 19048628,12554860,12554859,15325244,15891114,16381832,17604727,17616659,19954774,20167074,20924108,20169152 406966 AC137630,AY194171,NR_029690 MIRN191|miR-191 miscrna 2312894 MIR1910 microRNA 1910 16381832,18583537 100302261 AC018695,NR_031731 MIRN1910|hsa-mir-1910 miscrna 2312918 MIR1911 microRNA 1911 16381832,18583537 100302222 AC004822,NR_031732 MIRN1911|hsa-mir-1911 miscrna 2312975 MIR1912 microRNA 1912 16381832,18583537,19784364 100302144 AC007025,NR_031733 MIRN1912|hsa-mir-1912 miscrna 2312978 MIR1913 microRNA 1913 16381832,18583537 100302141 AL022069,NR_031734 MIRN1913|hsa-mir-1913 miscrna 2312982 MIR1914 microRNA 1914 16381832,18583537 100302137 AL118506,NR_031735 MIRN1914|hsa-mir-1914 miscrna 2312986 MIR1915 microRNA 1915 16381832,18583537 100302129 AL358780,NR_031736 MIRN1915|hsa-mir-1915 miscrna 1353067 MIR192 microRNA 192 MicroRNAs (miRNAs), such as MIRN192, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 12554859,12624257,14573789,16381832,17604727,20951946,19088023,19074876,12554860,20647341,20056746,20889907 406967 AP001187,AY194172,NR_029578 MIRN192|miR-192|miRNA192 miscrna 1350382 MIR193A microRNA 193a 12554859,16381832,17604727,17616659 406968 AC003101,NR_029710 MIRN193|MIRN193A microrna 193 miscrna 1603767 MIR193B microRNA 193b 19684618,19701247,19883314,20304954,15965474,16274478,16381832,17604727,17616659,20073067,20889907 574455 NR_030177,AC040173 MIRN193B miscrna 1348209 MIR194-1 microRNA 194-1 MicroRNAs (miRNAs), such as MIRN194-1, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 20951946,12554859,14573789,16381832,17604727 406969 AC103590,NR_029711 MIRN194-1 miscrna 1344358 MIR194-2 microRNA 194-2 MicroRNAs (miRNAs), such as MIRN194-2, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 12554859,14573789,16381832,17604727 406970 AP001187,NR_029829 MIRN194-2 miscrna 1343846 MIR195 microRNA 195 MicroRNAs (miRNAs), such as MIRN195, are small, noncoding RNAs of 18 to 25 nucleotides that regulate gene expression in a sequence-specific manner (van Rooij et al., 2006 [PubMed 17108080]).[supplied by OMIM] 18677302,17108080,12554859,16381832,17604727,20952681,20727858 406971 AC040977,NR_029712 MIRN195|miRNA195 miscrna 1353314 MIR196A1 microRNA 196a-1 MicroRNAs (miRNAs), such as miRNA196, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 19418581,19063684,18663355,12554859,20601442,20889907,12624257,15105502,16381832,17604727,17616659,20722507,20480203,20229273,20127796 406972 AC103702,AJ560753,NR_029582 MIRN196-1|MIRN196A1 miscrna 1353191 MIR196A2 microRNA 196a-2 MicroRNAs (miRNAs), such as miRNA196, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 19514064,19293314,19138993,12554859,12624257,15105502,16381832,17604727,17616659,20732906,20842445,20848167,21073609,21080878,20585341,20640596,20480203,19834808,19847796,19851984,19881472,20188135,20229273,20466450,20488170,20501619,20549817,19567675 406973 AC012531,NR_029617 MIRN196-2|MIRN196A2 miscrna 1350479 MIR196B microRNA 196b MicroRNAs (miRNAs), such as miRNA196, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 12554860,15105502,16381832,17604727,17616659,19144710,20058197,20662076,20549547 442920 AC004080,NR_029911,CH236948 MIRN196B|miR-196b|miRNA196B miscrna 1348973 MIR197 microRNA 197 MicroRNAs, such as MIRN197, are small noncoding RNAs that regulate translation and stability of their target mRNAs (Lagos-Quintana et al., 2003 [PubMed 12554859]).[supplied by OMIM] 12554859,16381832,17604727,17616659,20167074,20889907 406974 AL355310,AJ560754,NR_029583 MIRN197|miR-197|miRNA197 miscrna 4108560 MIR1972 microRNA 1972 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18923441,11237011,15496913,15616553 100302243 AC138932,NR_036054 MIR1972|hsa-mir-1972|hsa-mir-1972-1 miscrna 4108984 MIR1972-2 microRNA 1972-2 16381832,18923441 100422922 AC009022,NR_036265 miscrna 2312882 MIR1973 microRNA 1973 16381832,18923441 100302290 AC024248,NR_031737 hsa-mir-1973 miscrna 2312930 MIR1974 microRNA 1974 100302207 AC093311,NR_031738 hsa-mir-1974 miscrna 2312904 MIR1975 microRNA 1975 16381832,18923441 100302248 AC073140,NR_031739 hsa-mir-1975 miscrna 2312940 MIR1976 microRNA 1976 16381832,18923441 100302190 AL627313,NR_031740 hsa-mir-1976 miscrna 2312941 MIR1977 microRNA 1977 100302189 AC114498,NR_031741 hsa-mir-1977 miscrna 2312954 MIR1978 microRNA 1978 100302173 AC105402,NR_031742 hsa-mir-1978 miscrna 2974673 MIR1979 microRNA 1979 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18923441 100302176 AC012504,NR_031743 hsa-mir-1979 miscrna 1347765 MIR198 microRNA 198 12554859,16381832,17604727,19671678,20167074,20347265 406975 AC063952,AJ560755,NR_029584 MIRN198|miR-198 miscrna 1346476 MIR199A1 microRNA 199a-1 MicroRNAs (miRNAs), such as miR199A, are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. Two distinct genes, MIRN199A1 and MIRN199A2 (MIM 610720), encode the same mature miR199A sequence (Fu et al., 2005 [PubMed 15978578]).[supplied by OMIM] 18456660,18408758,15978578,12554859,12624257,16381832,17604727,20158877 406976 AC007229,AJ560756,NR_029586 MIR-199-s|MIRN199A1 miscrna 1349796 MIR199A2 microRNA 199a-2 MicroRNAs (miRNAs), such as miR199A, are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. Two distinct genes, MIRN199A1 (MIM 610719) and MIRN199A2, encode the same mature miR199A sequence (Fu et al., 2005 [PubMed 15978578]). For further information on mature miR199A, see MIM 610719.[supplied by OMIM] 18408758,15978578,20400975,12554859,12624257,16381832,17604727,20158877 406977 AL137157,NR_029618 MIR-199-s|MIRN199A2 miscrna 1352073 MIR199B microRNA 199b 19308264,18548097,12624257,14573789,16381832,17604727,19900756 406978 AL590708,AJ550412,NR_029619 MIRN199B|mir-199b miscrna 1347994 MIR19A microRNA 19a 11914277,11679670,12554860,16381832,17604727,17616659,18632605,19538740,20133739,20167074,20857258 406979 AF480522,AJ421737,AF480554,AL162375,NR_029489 MIRN19A|hsa-mir-19a|miR-19a|miRNA19A miscrna 1346116 MIR19B1 microRNA 19b-1 11679670,11914277,12554860,14573789,15183728,15325244,15978578,16381832,17604727,17616659,18632605 406980 AL162375,AJ421739,AF480523,AF480555,NR_029490 MIRN19B1|miR-19b-1|miRNA19B1 miscrna 1347760 MIR19B2 microRNA 19b-2 MicroRNAs (miRNAs), such as miRNA19B2, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 11679670,11914277,12554860,14573789,15183728,15325244,15978578,16381832,17604727,17616659 406981 AC002407,AJ421740,AF480556,NR_029491 MIRN19B2|miR-19b-2 miscrna 1348162 MIR200A microRNA 200a MicroRNAs (miRNAs), such as MIRN200A, are 20- to 22-nucleotide noncoding RNAs that inhibit gene expression at the posttranscriptional level by binding to complementary sequences in the 3-prime UTRs of target mRNAs (Park et al., 2008 [PubMed 18381893]).[supplied by OMIM] 20551052,18381893,20514023,12554859,15634332,15891114,16381832,17604727,17616659,19501389,19671845,19703993,19931509,20124485,20167074 406983 AL390719,NR_029834 MIRN200A miscrna 1343713 MIR200B microRNA 200b MicroRNAs (miRNAs), such as MIRN200B, are 20- to 22-nucleotide noncoding RNAs that inhibit gene expression at the posttranscriptional level by binding to complementary sequences in the 3-prime UTRs of target mRNAs (Park et al., 2008 [PubMed 18381893]).[supplied by OMIM] 20551052,18381893,17585049,12769849,14573789,15891114,16381832,17604727,17616659,20832727,20514023,19501389,19671845,19801681,20574809,21079000,20668090 406984 AL390719,NR_029639 MIRN200B miscrna 1353057 MIR200C microRNA 200c MicroRNAs (miRNAs), such as MIRN200C, are 20- to 22-nucleotide noncoding RNAs that inhibit gene expression at the posttranscriptional level by binding to complementary sequences in the 3-prime UTRs of target mRNAs (Park et al., 2008 [PubMed 18381893]).[supplied by OMIM] 20620960,19502803,18381893,17804704,20514023,14573789,15183728,16381832,17604727,17616659,19665978,19801681,20084174 406985 U47924,NR_029779 MIRN200C miscrna 1603774 MIR202 microRNA 202 15965474,16381832,17604727,20889907 574448 NR_030170,AY882277,AL592071 MIRN202|hsa-mir-202 miscrna 1345431 MIR203 microRNA 203 MicroRNAs (miRNAs), such as MIRN203, are noncoding RNAs of about 22 nucleotides that can suppress the expression of protein-coding genes by targeting cognate mRNAs for translational repression or degradation (Sonkoly et al., 2007).[supplied by OMIM] 18483491,17622355,12624257,16381832,17604727,19551852,19759552,19843643,20219920,20702634,20698882 406986 AL136001,NR_029620 MIRN203|miR-203|miRNA203 miscrna 1346904 MIR204 microRNA 204 MicroRNAs (miRNAs), such as MIRN204, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 12624257,16381832,17604727,20889907,20056717 406987 AL159990,NR_029621 MIRN204|miRNA204 miscrna 1350430 MIR205 microRNA 205 19244118,19238171,19190970,18719201,12624257,16381832,17604727,17616659,19144710,20588024,19033458,19665999,19839716,20167074,20428818,20530248,20889907 406988 AL035408,NR_029622 MIRN205 miscrna 2312895 MIR2052 microRNA 2052 16381832,18952845 100302260 AC115837,NR_031744 hsa-mir-2052 miscrna 2312915 MIR2053 microRNA 2053 18952845,16381832 100302225 AC104380,NR_031745 hsa-mir-2053 miscrna 2946918 MIR2054 microRNA 2054 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18952845 100302267 AC092629,NR_031746 hsa-mir-2054 miscrna 1352988 MIR206 microRNA 206 MicroRNAs (miRNAs), such as MIRN206, are conserved noncoding RNAs of approximately 21 nucleotides that regulate translation and stability of target mRNAs based on sequence complementarity (Lagos-Quintana et al., 2003 [PubMed 12554859]).[supplied by OMIM] 19620785,18593897,12554859,20519629,20696132,16381832,17604727,20487562,20346098,19423651,19684618,19710019,19723635,20347265 406989 AL391221,NR_029713 MIRN206|miRNA206 miscrna 1346072 MIR208A microRNA 208a MicroRNAs (miRNAs) are small non-protein-coding RNAs that basepair with specific mRNAs and inhibit translation or promote mRNA degradation (van Rooij et al., 2007 [PubMed 17379774]). MIRN208 is a cardiac-specific microRNA encoded by an intron of the MYH6 gene (MIM 160710) and is required for cardiomyocyte hypertrophy, fibrosis, and expression of MYH7 (MIM 160760) in response to stress and hypothyroidism.[supplied by OMIM] 17379774,12554859,16381832,20029200 406990 AL049829,NR_029595 MIR208|MIRN208|MIRN208A|hsa-mir-208a|miRNA208 miscrna 2290220 MIR208B microRNA 208b 16381832,16954537,17604727 100126336 AL132855,NR_030624 MIRN208B miscrna 1352718 MIR20A microRNA 20a 19048628,18836483,18773208,18695042,17135249,15944709,11679670,20485376,12554860,14573789,15325244,15978578,16381832,17604727,17616659,18632605,19893619,20089119,20167074,20406904,20711463,20944140 406982 AL162375,AJ421738,NR_029492 MIR20|MIRN20|MIRN20A|hsa-mir-20|hsa-mir-20a|miR-20|miRNA20A microrna 20 miscrna 1604874 MIR20B microRNA 20b 20232316,15944709,15965474,16274478,16381832,17604727,17616659 574032 NR_029950,AY785943,AC002407 MIRN20B|hsa-mir-20b miscrna 1349265 MIR21 microRNA 21 MicroRNAs (miRNAs), such as MIRN21, are small noncoding RNAs that regulate gene expression by targeting mRNAs of protein-coding genes for either cleavage or inhibition of translation (Chan et al., 2005 [PubMed 16024602]).[supplied by OMIM] 20489163,20223231,20889907,19597153,19547998,19408243,19398721,19302977,19296468,19276261,19264808,19212625,19159078,19106647,19072831,19048628,19013014,18971265,18829576,18812439,18798260,18794849,18719201,18688024,18591254,18507035,18384814,18372920,18218696,18196926,18059191,17968323,17681183,17622355,17478730,17363372,20346171,20515755,20643828,20370992,12554860,14573789,15183728,15325244,15978578,16381832,17604727,17616659,20141427,20158877,20504344,20620599,16024602,15525708,12477932,11914277,11679670,20404348,20346098,20363096,20393129,20498843,18932017,19419954,19430705,19446359,19509156,19509158,19546886,19559015,19578724,19633292,19641183,19672202,19682430,19730150,19737943,19816956,19826040,19906824,19921579,19946272,20092645,20093556,20153722,20167074,20371612,20483747,16365291,20701609,21159845,20113523,20148895,20428818,20447717,20514462,20797623,20625373,20693317,21069438,20831814,20372781,20813833 406991 BC053563,AF480524,AJ421741,AY699265,AF480502,AF480557,AC004686,NR_029493 Hs.444569 MIRN21|hsa-mir-21|miR-21|miRNA21 miscrna 1345765 MIR210 microRNA 210 MicroRNAs (miRNAs), such as MIR210, are small noncoding RNAs that regulate gene expression by binding to target sequences in mRNAs and directing mRNA degradation or inhibition of translation (Kosaka et al., 2008 [PubMed 18283792]).[supplied by OMIM] 15800047,16381832,17604727,17616659,18417479,18283792,12624257,20498629,19551852,19652553,19712585,19782034,19808020,20075508,20187102,20308562 406992 AP006284,AJ550413,NR_029623 MIRN210|mir-210 miscrna 1344448 MIR211 microRNA 211 20889907,16381832,18946016,12624257,20378606,21109473,20056717 406993 AC009562,AJ550414,NR_029624 MIRN211|mir-211 miscrna 2312916 MIR2110 microRNA 2110 16381832,19144710 100302224 AC022023,NR_031747 hsa-mir-2110 miscrna 2312959 MIR2113 microRNA 2113 16381832,16954537,19015728 100302164 AL590239,NR_031579 hsa-mir-2113 miscrna 3497328 MIR2114 microRNA 2114 20224791,16381832,19390579 100313839 AC144560,NR_031748 miscrna 3497327 MIR2115 microRNA 2115 16381832,19390579,20224791 100313840 AC105267,NR_031749 miscrna 3497322 MIR2116 microRNA 2116 16381832,19390579 100313886 AC092756,NR_031750 miscrna 3516308 MIR2117 microRNA 2117 16381832,19390579 100313779 AC087650,NR_031751 miscrna 1352239 MIR212 microRNA 212 20020497,16381832,18162065,12624257 406994 AC090617,AJ550415,NR_029625 MIRN212|mir-212 miscrna 1347052 MIR214 microRNA 214 MicroRNAs (miRNAs), such as MIRN214, are small, noncoding RNAs of 18 to 25 nucleotides that regulate gene expression in a sequence-specific manner (van Rooij et al., 2006 [PubMed 17108080]).[supplied by OMIM] 20400975,16381832,17604727,18230126,18199536,17108080,12624257,19733659,19859982 406996 AL137157,AJ550417,NR_029627 MIRN214|miRNA214|mir-214 miscrna 1345766 MIR215 microRNA 215 MicroRNAs (miRNAs), such as MIRN215, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 16381832,17604727,19074876,12624257,20951946,20433742,20647341 406997 AC103590,AJ550418,NR_029628 MIRN215|miRNA215|mir-215 miscrna 1353818 MIR216A microRNA 216a MicroRNAs (miRNAs), such as MIRN216, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 16381832,17604727,12624257,20167074 406998 AC011306,AJ550419,NR_029629 MIR216|MIRN216|MIRN216A|miRNA216|mir-216 miscrna 2290236 MIR216B microRNA 216b 16381832,16954537,17604727 100126319 AC011306,NR_030623 MIRN216B miscrna 1345644 MIR217 microRNA 217 16381832,17604727,12624257,19786632,20675343 406999 AC011306,AJ550420,NR_029630 MIRN217|mir-217 miscrna 1344474 MIR218-1 microRNA 218-1 16381832,17604727,17616659,20933503,20300657,12624257 407000 NR_029631,AC021118,AJ550421 MIRN218-1|mir-218-1 miscrna 1347035 MIR218-2 microRNA 218-2 16381832,17604727,17616659,12624257,20889907 407001 NR_029632,AC011365,AJ550422 MIRN218-2|mir-218-2 miscrna 1351642 MIR219-1 microRNA 219-1 MicroRNAs (miRNAs) are small noncoding RNAs that regulate the stability or translation of their target mRNAs. MIRN219-1 is a CLOCK (MIM 601851)-controlled gene that plays a role in regulating the length of the circadian day (Cheng et al., 2007 [PubMed 17553428]).[supplied by OMIM] 19851984,20732906,20889907,15634332,16381832,17604727,19138993,17553428,12624257,20585341 407002 NR_029633,AL713971,AL844527,CR759733,CR759786,CR847841,AL645940,AJ550423 MIRN219-1|MRI219-1|mir-219 miscrna 1353680 MIR219-2 microRNA 219-2 12624257,15634332,16381832,17604727,18548097 407003 AL359091,NR_029837 MIRN219-2 miscrna 1345864 MIR22 microRNA 22 MicroRNAs, such as MIRN22, are noncoding RNAs of 18 to 24 nucleotides that regulate the stability and translational efficiency of complementary target mRNAs (Chang et al., 2008 [PubMed 18066065]).[supplied by OMIM] 19414598,18066065,11914277,11679670,20180843,20214878,14573789,15978578,16381832,17604727,17616659,20158877,20889907,20842113,20562918,20633528,20523723 407004 AC130343,AF480525,AJ421742,NR_029494 MIRN22|hsa-mir-22|miR-22 miscrna 1350788 MIR220A microRNA 220a 12624257,16381832 407005 AL030996,AJ550424,NR_029634 MIRN220|MIRN220A|hsa-mir-220a|mir-220 miscrna 2290253 MIR220B microRNA 220b 16381832,17604727 100126300 AC010503,NR_030585 MIRN220B miscrna 2290212 MIR220C microRNA 220c 16381832,17604727 100126344 AC008403,NR_030591 MIRN220C miscrna 1349484 MIR221 microRNA 221 MicroRNAs (miRNAs), such as MIRN221, are small noncoding RNAs that regulate gene expression primarily through translational repression (Felli et al., 2005 [PubMed 16330772]).[supplied by OMIM] 20547861,16381832,17604727,17616659,20158877,15325244,20818387,19464057,19424584,19351832,19351599,19159078,19126397,19109175,19107213,19088079,18790736,18759060,18708351,18521080,18382364,17914108,17721077,17569667,16330772,12624257,20417062,20461750,19585579,19615744,19671867,19730150,19749093,19953484,19962668,20012062,20018759,20110463,20167074,20198336,20203269,16365291,21159845,20624000,20428775,20813046 407006 AL034412,AJ550425,NR_029635 MIRN221|miRNA221|mir-221 miscrna 1352986 MIR222 microRNA 222 MicroRNAs (miRNAs), such as MIRN222, are small noncoding RNAs that regulate gene expression primarily through translational repression (Felli et al., 2005 [PubMed 16330772]).[supplied by OMIM] 20489169,20857258,19487542,19464057,19351832,19109175,19107213,18790736,18708351,17914108,17721077,17569667,16330772,12624257,19520829,19551852,19589872,19615744,19883312,19953484,19962668,20012062,20103675,20167074,20198336,20203269,20818387,20504344,15183728,15325244,16381832,17604727,17616659,20624000,20417062,20461750,20428775,20813046 407007 AL034412,AJ550426,NR_029636 MIRN222|miRNA222|mir-222 miscrna 1342661 MIR223 microRNA 223 MicroRNAs (miRNAs), such as MIRN223, are small noncoding RNAs that play regulatory roles in development, cell proliferation, differentiation, and apoptosis (Mi et al., 2007 [PubMed 18056805]).[supplied by OMIM] 20826802,19289845,19278969,19148136,19144983,19048628,18555017,18442408,18056805,17996649,16381832,17604727,19047678,12624257,19017354,19931339,20018373,20029046,20080987,20188071,20418243,20856265 407008 AL034397,AJ550427,NR_029637 MIRN223|miRNA223|mir-223 miscrna 1346129 MIR224 microRNA 224 MicroRNAs (miRNAs) such as miR224 are members of a family of noncoding RNAs that are involved in posttranscriptional gene regulation (Murakami et al., 2006) [PubMed 16331254]. Mature miRNAs are 19- to 25-nucleotide transcripts that are cleaved from 70- to 100-nucleotide hairpin-shaped precursors.[supplied by OMIM] 18319255,16331254,19403413,19475450,19793168,12554860,15891114,16381832,17604727,17616659,19015728,19144710 407009 AF274855,NR_029638 MIRN224|miRNA224 miscrna 3497325 MIR2276 microRNA 2276 16381832,19508715 100313842 AL359736,NR_031753 miscrna 3497321 MIR2277 microRNA 2277 16381832,19508715,20224791 100313887 AC106818,NR_031754 miscrna 3516306 MIR2278 microRNA 2278 16381832,19508715 100313780 AL157936,NR_031755 miscrna 4108862 MIR2355 microRNA 2355 16381832,19784364,20224791,20459774,20532037 100423036 AC008062,NR_036227 miscrna 1351663 MIR23A microRNA 23a MicroRNAs (miRNAs), such as miRNA23A, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 11914277,14573789,15325244,16381832,17604727,17616659,11679670,19513126,20086171,20815877,20698883 407010 AF480526,AF480558,AJ421743,AC020916,NR_029495 MIRN23A|hsa-mir-23a|miRNA23A miscrna 1349177 MIR23B microRNA 23b MicroRNAs (miRNAs), such as MIRN23B, are small, noncoding RNAs of 18 to 25 nucleotides that regulate gene expression in a sequence-specific manner (van Rooij et al., 2006 [PubMed 17108080]).[supplied by OMIM] 17108080,20889907,12007417,16381832,17604727,17616659,20562915,20086171,20133741 407011 AL354893,NR_029664 MIRN23B|hsa-mir-23b|miRNA23B miscrna 4888855 MIR23C microRNA 23c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500809 AL732366,NR_037414 hsa-mir-23c miscrna 1342757 MIR24-1 microRNA 24-1 MicroRNAs (miRNAs) are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. The full-length miR24-1 precursor is processed into 2 mature miRNAs, miR189 and miR24. A second distinct gene, MIRN24-2 (MIM 610724), also encodes the mature miR24 sequence (Abelson et al., 2005 [PubMed 16224024]; Fu et al., 2005 [PubMed 15978578]).[supplied by OMIM] 19377482,19048628,16224024,15978578,11679670,20816961,11914277,12554859,14573789,15325244,16381832,17604727,17616659,20158877,20019669,20041160,20347265,20889907,20195546 407012 AL354893,AJ421744,AF480560,NR_029496 MIR189|MIRN24-1|miR-24-1|miRNA24-1 miscrna 1344925 MIR24-2 microRNA 24-2 MicroRNAs (miRNAs), such as miR24, are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. Two distinct genes, MIRN24-1 (MIM 609705) and MIRN24-2, encode the same mature miR24 sequence (Fu et al., 2005 [PubMed 15978578]). For further information on mature miR24, see MIM 609705.[supplied by OMIM] 11914277,14573789,15325244,16381832,17604727,17616659,20158877,20815877,19048628,15978578,11679670,19513126,20347265,20195546 407013 AF480559,AC020916,AJ421745,NR_029497 MIRN24-2|miR-24-2|miRNA24-2 miscrna 1351042 MIR25 microRNA 25 MicroRNAs (miRNAs), such as miRNA25, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 18328430,11679670,19486339,19541842,20637509,15325244,16381832,17604727,17616659,20388916 407014 AC073842,AJ421746,NR_029498,CH236956 MIRN25|hsa-mir-25|miR-25 miscrna 1347029 MIR26A1 microRNA 26a-1 MicroRNAs (miRNAs), such as miRNA26A1, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 20585341,19138993,18713946,11679670,14573789,15183728,15325244,15978578,16381832,17604727,17616659,19701194,19812400,19851984,20130213,20230625,20952513,20525681,20732906,20889907 407015 AC105752,AJ421747,NR_029499 MIR26A|MIRN26A1 miscrna 1345037 MIR26A2 microRNA 26a-2 14573789,15183728,15325244,15978578,16381832,17604727,11679670,17616659 407016 AC121759,NR_029847 MIRN26A2 miscrna 1350106 MIR26B microRNA 26b MicroRNAs (miRNAs), such as miRNA26B, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 11679670,14573789,15325244,16381832,17604727,17616659,19812400,20167074,20347265,20889907 407017 AC021016,AJ421748,NR_029500 MIRN26B|hsa-mir-26b|miR-26b miscrna 1345708 MIR27A microRNA 27a MicroRNAs (miRNAs), such as miRNA27A, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 19114653,18789835,18619946,17546506,11679670,11914277,15325244,16381832,17604727,17616659,20815877,20624637,20666778,20382698,20558719,19513126,19574223,19921425,19948051,19950226,20638779,20708603,19960259 407018 AC020916,AF480561,AJ421749,NR_029501 MIR27|MIRN27A miscrna 1343068 MIR27B microRNA 27b MicroRNAs, such as MIRN27B, are small noncoding RNAs that regulate gene expression through translational repression or mRNA cleavage (Tsuchiya et al., 2006 [PubMed 16982751]).[supplied by OMIM] 16982751,20388705,12007417,12554860,14573789,16381832,17604727,17616659,19800867,20131257,20164187,20889907 407019 AL354893,NR_029665 MIRN27B|miRNA27B miscrna 1342536 MIR28 microRNA 28 MicroRNAs (miRNAs), such as miRNA28, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 11679670,16381832,17604727,17616659,18230126,20445018 407020 AC063932,AJ421750,NR_029502 MIRN28|hsa-mir-28|miR-28 miscrna 4108998 MIR2861 microRNA 2861 MicroRNAs, such as MIR2861, are single-stranded noncoding RNAs of about 22 nucleotides that negatively regulate translation by base pairing with partially or fully complementary sequences in target mRNAs. MIR2861 is involved in regulation of osteoblast differentiation (Li et al., 2009 [PubMed 19920351]).[supplied by OMIM] 16381832,19920351 100422910 AL162586,NR_036055 BMND15|MIRN2861 miscrna 4108947 MIR2909 microRNA 2909 16381832 100422969 AC023315,NR_036056 miscrna 1349952 MIR296 microRNA 296 MicroRNAs (miRNAs), such as MIRN296, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 20561597,12919684,15183728,15634332,16381832,17604727,17616659,19926710,20485139 407022 AL132655,NR_029844 MIRN296|miRNA296 miscrna 3184212 MIR297 microRNA 297 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,17322031 100126354 AC024198,NR_030643 MIRN297|hsa-mir-297 miscrna 2290256 MIR298 microRNA 298 16381832,17604727 100126296 AL132655,NR_030580 MIRN298|hsa-mir-298 miscrna 1345678 MIR299 microRNA 299 12919684,15634332,15891114,16381832,17604727,20889907 407023 AL132709,NR_029841 MIRN299 miscrna 1347397 MIR29A microRNA 29a 19347736,19102781,18977326,18723672,16236258,11679670,12554860,14573789,15183728,15325244,16381832,17604727,17616659,20158877,20889907,18434550,20067797,20086245,20167074,20212066,20551325,20566844,20564213 407021 AC016831,AJ421751,CH236950,NR_029503 MIRN29|MIRN29A|hsa-mir-29|hsa-mir-29a|miRNA29A miscrna 1347389 MIR29B1 microRNA 29b-1 MicroRNAs (miRNAs) are noncoding RNAs of about 19 to 25 nucleotides that are cleaved from 70- to 100-nucleotide hairpin pre-miRNA precursors. miRNAs bind, through partial sequence homology, to the 3-prime UTRs of target mRNAs, causing a block of translation or, less frequently, mRNA degradation. Two distinct genes, MIRN29B1 and MIRN29B2, produce different pre-miRNAs that encode the same mature miRNA29B sequence (Hwang et al., 2007 [PubMed 17204650]).[supplied by OMIM] 19211935,19048628,17204650,11914277,15183728,16381832,17604727,17616659,20628397,18434550,19956414,19966860,20479936,20564213,20566844 407024 AF480500,AF480541,AF480542,NR_029517,AC016831,CH236950 MIRN29B1|miRNA29B1 miscrna 1343298 MIR29B2 microRNA 29b-2 19048628,12624257,11914277,15183728,16381832,17604727,17616659,20479936,20167074 407025 AL035209,AJ550397,AF480543,NR_029518 MIRN29B2|mir-29b-2 miscrna 1351109 MIR29C microRNA 29c 19158830,19144983,18390668,12007417,12554860,16381832,17604727,17616659,20889907 407026 AL035209,NR_029832 MIRN29C|miRNA29C miscrna 2290255 MIR300 microRNA 300 16381832,17604727 100126297 AL132709,NR_030582 MIRN300|hsa-mir-300 miscrna 1345841 MIR301A microRNA 301a 12919684,15183728,15634332,16381832,17604727,20470754 407027 AC099850,NR_029842 MIRN301|MIRN301A miscrna 2290237 MIR301B microRNA 301b 16381832,16954537,17604727,20470754 100126318 AP000553,NR_030622 MIRN301B miscrna 1352230 MIR302A microRNA 302a 19386261,19342891,18710938,12919684,15183728,15634332,16381832,17604727 407028 AC106864,NR_029835 MIRN302|MIRN302A|hsa-mir-302 miscrna 1349629 MIR302B microRNA 302b 15183728,16381832,17604727,18930031 442894 AC106864,NR_029857 MIRN302B miscrna 1344588 MIR302C microRNA 302c 19684618,15183728,17604727,16381832 442895 NR_029858,AC106864 MIRN302C miscrna 1352286 MIR302D microRNA 302d 15183728,16381832,17604727,20889907 442896 AC106864,NR_029859 MIRN302D miscrna 3516309 MIR302E microRNA 302e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313774 AC027804,NR_031683 MIRN302E miscrna 2974682 MIR302F microRNA 302f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302131 AC115100,NR_031684 MIRN302F|hsa-mir-302f miscrna 4108993 MIR3065 microRNA 3065 16381832,20300190,20483914 100422915 AC115099,NR_036151 miscrna 4109066 MIR3074 microRNA 3074 16381832,20300190 100422842 AL354893,NR_036109 miscrna 1352516 MIR30A microRNA 30a MicroRNAs (miRNAs) such as MIRN30A are noncoding regulatory RNAs of about 22 nucleotides that reduce the stability and/or the translation of fully or partially sequence-complementary target mRNAs (Landgraf et al., 2007 [PubMed 17604727]).[supplied by OMIM] 18632683,17604727,19138993,19289845,20498642,11679670,11914277,14573789,15325244,16381832,17616659,19535919,19851984,19965479,20169152,20732906,20889907 407029 AL035467,AF480535,AF480569,AJ421752,NR_029504 MIRN30A miscrna 1349241 MIR30B microRNA 30b 12007417,16381832,17604727,17616659,20347265,20889907 407030 AC083843,NR_029666 MIRN30B miscrna 1351898 MIR30C1 microRNA 30c-1 19138993,19048628,12007417,15325244,15634332,15978578,16381832,17604727,17616659,19851984,20732906,20889907 407031 AL354914,NR_029833 MIRN30C1 miscrna 1348464 MIR30C2 microRNA 30c-2 19048628,12007417,15325244,15634332,15978578,16381832,17604727,17616659,20889907 407032 AL136164,NR_029598 MIRN30C2 miscrna 1344201 MIR30D microRNA 30d 12007417,16381832,17604727,17616659,17989717 407033 AC083843,NR_029599 MIRN30D miscrna 1354313 MIR30E microRNA 30e 12007417,12919684,15325244,15634332,16381832,17604727,17616659,20579744,20347265,20309880 407034 AL354914,NR_029846 MIRN30E miscrna 1343532 MIR31 microRNA 31 MicroRNAs (miRNAs), such as miRNA31, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 19524507,19408243,19242066,19127597,18971265,11679670,16381832,17604727,17616659,20479124,19949084,20145132,20179198,20237410,20463022,20233326,20889907,19598010 407035 AL353732,AJ421753,NR_029505 MIRN31|hsa-mir-31|miR-31 miscrna 4109042 MIR3115 microRNA 3115 16381832,20300190 100422866 AL031428,NR_036057 miscrna 4109005 MIR3116-1 microRNA 3116-1 16381832,20300190 100422902 AL136458,NR_036058 miscrna 4108967 MIR3116-2 microRNA 3116-2 16381832,20300190,20224791 100422946 AL136458,NR_036059 miscrna 4109034 MIR3117 microRNA 3117 16381832,20300190 100422871 AL139147,NR_036060 miscrna 4108899 MIR3118-1 microRNA 3118-1 16381832,20300190 100423008 AL583842,NR_036061 miscrna 4108959 MIR3118-2 microRNA 3118-2 16381832,20300190 100422949 BX571672,NR_036062 miscrna 4109061 MIR3118-3 microRNA 3118-3 16381832,20300190 100422844 BX004987,NR_036063 miscrna 4108978 MIR3118-4 microRNA 3118-4 16381832,20300190 100422935 AC012414,NR_036134 miscrna 4109019 MIR3118-5 microRNA 3118-5 16381832,20300190 100422890 AP001465,NR_036165 miscrna 4109003 MIR3118-6 microRNA 3118-6 16381832,20300190 100422906 AC183089,NR_036269 miscrna 4109067 MIR3119-1 microRNA 3119-1 16381832,20300190 100422839 AL445203,NR_036064 miscrna 4108894 MIR3119-2 microRNA 3119-2 16381832,20300190 100423010 AL445203,NR_036065 miscrna 4109026 MIR3120 microRNA 3120 16381832,20300190 100422882 AL137157,NR_036066 miscrna 4108869 MIR3121 microRNA 3121 16381832,20300190,20224791 100423032 AL445469,NR_036067 miscrna 4108964 MIR3122 microRNA 3122 16381832,20300190 100422947 AL606468,NR_036068 miscrna 4109050 MIR3123 microRNA 3123 16381832,20300190 100422856 AL512307,NR_036069 miscrna 4109029 MIR3124 microRNA 3124 16381832,20300190,20224791 100422879 AL732583,NR_036070 miscrna 4108926 MIR3125 microRNA 3125 16381832,20300190 100422986 AC009486,NR_036072 miscrna 4108867 MIR3126 microRNA 3126 16381832,19784364,20300190,20224791 100423030 NR_036073,AC112230 miscrna 4108991 MIR3127 microRNA 3127 16381832,20300190 100422928 AC092636,NR_036074 miscrna 4109083 MIR3128 microRNA 3128 16381832,20300190 100422824 AC079305,NR_036075 miscrna 4109000 MIR3129 microRNA 3129 20224791,16381832,20300190 100422908 AC064833,NR_036076 miscrna 4108919 MIR3130-1 microRNA 3130-1 16381832,20300190,20224791 100422993 AC008269,NR_036077,NR_036079 MIR3130-3 miscrna 4108891 MIR3130-2 microRNA 3130-2 20224791,16381832,20300190 100423002 NR_036080,AC008269,NR_036078 MIR3130-4 miscrna 4108953 MIR3131 microRNA 3131 16381832,20300190 100422957 AC097468,NR_036081 miscrna 4108860 MIR3132 microRNA 3132 16381832,20300190 100423039 AC009955,NR_036082 miscrna 4108969 MIR3133 microRNA 3133 16381832,20300190 100422942 AC005104,NR_036083 miscrna 4108927 MIR3134 microRNA 3134 16381832,20300190 100422990 AC090950,NR_036085 miscrna 4109006 MIR3135 microRNA 3135 16381832,20300190 100422901 AC099057,NR_036086 miscrna 4109048 MIR3136 microRNA 3136 16381832,20300190 100422859 AC109587,NR_036087 miscrna 4108985 MIR3137 microRNA 3137 16381832,20300190 100422926 AC106705,NR_036089 miscrna 4108890 MIR3138 microRNA 3138 20224791,16381832,20300190 100423011 AC005674,NR_036090 miscrna 4108880 MIR3139 microRNA 3139 16381832,20300190 100423017 AC097658,NR_036091 miscrna 4109027 MIR3140 microRNA 3140 16381832,20300190,20224791 100422896 AC023424,NR_036092 miscrna 4108962 MIR3141 microRNA 3141 16381832,20300190 100422950 AC112175,NR_036094 miscrna 4108971 MIR3142 microRNA 3142 16381832,20300190 100422938 AC091842,NR_036095 miscrna 4109918 MIR3143 microRNA 3143 16381832,20300190 100422934 AL021807,NG_000827,NR_036096 miscrna 4109009 MIR3144 microRNA 3144 20224791,16381832,20300190 100422951 AL049613,NR_036098 miscrna 4108893 MIR3145 microRNA 3145 16381832,20300190 100423001 AL391669,NR_036099 miscrna 4108942 MIR3146 microRNA 3146 16381832,20300190 100422967 AC004940,NR_036101,CH236948 miscrna 4108972 MIR3147 microRNA 3147 16381832,20300190 100422939 AC073057,NR_036102 miscrna 4109030 MIR3148 microRNA 3148 16381832,20300190 100422876 AC131254,NR_036104 miscrna 4108946 MIR3150 microRNA 3150 16381832,20300190 100422964 AC068189,NR_036105 miscrna 4888759 MIR3150B microRNA 3150b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500907 AC068189,NR_037484 miscrna 4108922 MIR3151 microRNA 3151 16381832,20300190 100422992 AC025370,NR_036106 miscrna 4109038 MIR3152 microRNA 3152 16381832,16954537,20300190,20224791 100422869 AL449963,NR_036107 miscrna 4108973 MIR3153 microRNA 3153 16381832,20300190 100422936 AL160054,NR_036108 miscrna 4109015 MIR3154 microRNA 3154 16381832,16954537,19784364,20300190 100422893 AL590708,NR_036110 miscrna 4108932 MIR3155 microRNA 3155 16381832,20300190 100422989 AL157395,NR_036111 miscrna 4108924 MIR3156-1 microRNA 3156-1 16381832,20300190 100422988 AL358394,NR_036112 miscrna 4108999 MIR3156-2 microRNA 3156-2 16381832,20300190 100422907 AP006565,NR_036153 miscrna 4109895 MIR3156-3 microRNA 3156-3 16381832,20300190 100423018 AL050302,NR_036164 miscrna 4109047 MIR3157 microRNA 3157 16381832,20300190 100422892 AL356155,NR_036113 miscrna 4109007 MIR3158-1 microRNA 3158-1 16381832,20300190,20224791 100422900 AL627424,NR_036114 miscrna 4108868 MIR3158-2 microRNA 3158-2 16381832,20300190,20224791 100423033 AL627424,NR_036115 miscrna 4108879 MIR3159 microRNA 3159 16381832,20300190 100423016 AC084117,NR_036116 miscrna 4109077 MIR3160-1 microRNA 3160-1 16381832,20300190 100422827 AC115097,NR_036117 miscrna 4109076 MIR3160-2 microRNA 3160-2 16381832,20300190 100422825 AC115097,NR_036118 miscrna 4108896 MIR3161 microRNA 3161 16381832,20300190 100423000 AC026975,NR_036119 miscrna 4109028 MIR3162 microRNA 3162 16381832,20300190 100422880 AP000442,NR_036120 miscrna 4108870 MIR3163 microRNA 3163 16381832,20300190 100423029 AP003176,NR_036121 miscrna 4109059 MIR3164 microRNA 3164 16381832,20300190 100422846 AP003071,NR_036122 miscrna 4108958 MIR3165 microRNA 3165 16381832,20300190 100422953 AP002490,NR_036123 miscrna 4108861 MIR3166 microRNA 3166 16381832,20300190 100423040 AP001642,NR_036124 miscrna 4108990 MIR3167 microRNA 3167 16381832,20300190,20224791 100422918 AP002833,NR_036126 miscrna 4109032 MIR3168 microRNA 3168 16381832,20300190 100422878 AL161775,NR_036127 miscrna 4108938 MIR3169 microRNA 3169 16381832,20300190 100422973 AL627427,NR_036128 miscrna 4109025 MIR3170 microRNA 3170 16381832,20300190 100422881 AL136300,NR_036129 miscrna 4109080 MIR3172 microRNA 3172 16381832,20300190 100422822 AL132988,NR_036130 miscrna 4108931 MIR3173 microRNA 3173 16381832,20300190 100422981 AL356017,NR_036131 miscrna 4109063 MIR3174 microRNA 3174 16381832,20300190 100422841 AC087284,NR_036135 miscrna 4108920 MIR3175 microRNA 3175 16381832,20300190,20224791 100422995 AC013394,NR_036136 miscrna 4108864 MIR3176 microRNA 3176 16381832,20300190 100423037 NR_036137,Z97986 miscrna 4108884 MIR3177 microRNA 3177 16381832,20300190 100423012 AL031717,NR_036138 miscrna 4108937 MIR3178 microRNA 3178 16381832,20300190 100422974 AC093525,NR_036139 miscrna 4108955 MIR3179-1 microRNA 3179-1 16381832,20300190,20224791 100422960 AC136443,NR_036140 miscrna 4109022 MIR3179-2 microRNA 3179-2 16381832,20300190 100422886 AC136624,NR_036143 miscrna 4108888 MIR3179-3 microRNA 3179-3 16381832,20300190 100423006 AC126755,NR_036145 miscrna 4109036 MIR3180-1 microRNA 3180-1 16381832,20300190,20224791 100422870 AC138932,NR_036141 miscrna 4108957 MIR3180-2 microRNA 3180-2 16381832,20300190 100422956 AC138969,NR_036142 miscrna 4109068 MIR3180-3 microRNA 3180-3 16381832,20300190 100422836 AC126755,NR_036144 miscrna 4888827 MIR3180-4 microRNA 3180-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500852 AC126763,NR_037466 miscrna 4888772 MIR3180-5 microRNA 3180-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500916 AC009065,NR_037467 miscrna 4109057 MIR3182 microRNA 3182 16381832,20300190 100422853 AC106814,NR_036147 miscrna 4109069 MIR3183 microRNA 3183 16381832,20300190 100422835 AC015884,NR_036148 miscrna 4108892 MIR3184 microRNA 3184 16381832,20300190 100423003 AC104984,NR_036149 miscrna 4108933 MIR3185 microRNA 3185 16381832,20300190 100422978 AC091179,NR_036150 miscrna 4108974 MIR3186 microRNA 3186 20224791,16381832,20300190 100422944 AC110285,NR_036152 miscrna 4109053 MIR3187 microRNA 3187 16381832,20300190 100422854 AC006273,NR_036154 miscrna 4109079 MIR3188 microRNA 3188 16381832,20300190 100422833 AC008397,NR_036155 miscrna 4108966 MIR3189 microRNA 3189 16381832,20300190 100422943 AC008397,NR_036156 miscrna 4109012 MIR3190 microRNA 3190 16381832,20300190 100422899 AC008532,NR_036158 miscrna 4109073 MIR3191 microRNA 3191 16381832,20300190 100422832 AC008532,NR_036159 miscrna 4109031 MIR3192 microRNA 3192 16381832,20300190 100422875 AL121893,NR_036160 miscrna 4109002 MIR3193 microRNA 3193 16381832,20300190 100422904 AL117381,NR_036161 miscrna 4109018 MIR3194 microRNA 3194 16381832,20300190 100422889 AL035682,NR_036162 miscrna 4108882 MIR3196 microRNA 3196 16381832,20300190 100423014 AL121827,NR_036163 miscrna 4108874 MIR3197 microRNA 3197 16381832,20300190 100423023 AL773572,NR_036167 miscrna 4108872 MIR3198 microRNA 3198 20300190,16381832 100423025 AC016026,NR_036168 miscrna 4108866 MIR3199-1 microRNA 3199-1 16381832,20300190 100423034 AL031591,NR_036169 miscrna 4108917 MIR3199-2 microRNA 3199-2 16381832,20300190 100422998 AL031591,NR_036170 miscrna 1348727 MIR32 microRNA 32 MicroRNAs (miRNAs), such as miRNA32, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 16381832,17604727,11679670,20889907 407036 AL354797,AJ421754,NR_029506 MIRN32|hsa-mir-32|miR-32|miRNA32 miscrna 4108996 MIR3200 microRNA 3200 16381832,20300190,20224791,20459774,20532037 100422912 AL022336,NR_036171 miscrna 4108989 MIR3201 microRNA 3201 16381832,20300190 100422916 AL008720,NR_036172 miscrna 4108925 MIR3202-1 microRNA 3202-1 16381832,20300190 100422987 NR_036174,U52112 miscrna 4109044 MIR3202-2 microRNA 3202-2 16381832,20300190 100422877 NR_036175,U52112 miscrna 1344856 MIR320A microRNA 320a 20167074,14573789,15325244,16381832,17604727,17616659,20158877,20628061 407037 NR_029714,AC105206 MIRN320|MIRN320A|hsa-mir-320a miscrna 2974684 MIR320B1 microRNA 320b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,16954537,18392026 100302117 AL356748,NR_031564 MIR320B-1|MIRN320B1|hsa-mir-320b-1 miscrna 3516315 MIR320B2 microRNA 320b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,16954537,18285502,18392026 100313769 AC092809,NR_031574 MIR320B-2|MIRN320B2 miscrna 2974681 MIR320C1 microRNA 320c-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,16954537,18392026 100302135 AC106037,NR_031565 MIR320C-1|MIRN320C1|hsa-mir-320c-1 miscrna 2974668 MIR320C2 microRNA 320c-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18392026 100302195 AC023983,NR_031724 MIR320C-2|MIRN320C2|hsa-mir-320c-2 miscrna 3497318 MIR320D1 microRNA 320d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18392026 100313896 AL355132,NR_031723 MIR320D-1|MIRN320D1 miscrna 2974675 MIR320D2 microRNA 320d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18392026 100302169 AL451048,NR_031725 MIR320D-2|MIRN320D2|hsa-mir-320d-2 miscrna 4108994 MIR320E microRNA 320e 16381832,19784364,20300190 100422913 AC008635,NR_036157 miscrna 1348331 MIR323 microRNA 323 14691248,15634332,16381832,17604727,20889907 442897 NR_029890,AL132709 MIRN323|hsa-mir-323 miscrna 1343418 MIR324 microRNA 324 14691248,15634332,15800047,16381832,17604727,17616659 442898 AC120057,NR_029896 MIRN324|hsa-mir-324 miscrna 1350684 MIR325 microRNA 325 14691248,15634332,16381832 442899 NR_029905,AL139192 MIRN325|hsa-mir-325 miscrna 1348728 MIR326 microRNA 326 19838199,19883630,19955368,14691248,15634332,16381832,17604727,20889907 442900 NR_029891,AP000744 MIRN326|hsa-mir-326 miscrna 1603791 MIR329-1 microRNA 329-1 15891114,15965474,16274478,16381832,17604727,20889907 574408 NR_029967,AY882323,AL132709 MIRN329-1 miscrna 1603790 MIR329-2 microRNA 329-2 15891114,15965474,16274478,16381832,17604727 574409 NR_029968,AL132709 MIRN329-2 miscrna 1351782 MIR330 microRNA 330 14691248,15634332,16381832,17604727,17616659,19597470,20889907 442902 AC098776,NR_029886 MIRN330|hsa-mir-330 miscrna 1349160 MIR331 microRNA 331 19584056,14691248,15634332,16381832,17604727,17616659,20510161,20889907 442903 NR_029895,AC084879 MIRN331|hsa-mir-331 miscrna 1350498 MIR335 microRNA 335 MicroRNAs (miRNAs), such as miRNA335, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 14691248,15634332,16381832,17604727,17616659,21046227 442904 AC007938,NR_029899,CH236950 MIRN335|hsa-mir-335|miRNA335 miscrna 1351844 MIR337 microRNA 337 14691248,15634332,16381832,17604727 442905 AL117190,NR_029889 MIRN337|hsa-mir-337 miscrna 1349158 MIR338 microRNA 338 18684991,14691248,15634332,16381832,17604727,17616659,20574809 442906 AC115099,NR_029897 MIRN338|hsa-mir-338 miscrna 1345058 MIR339 microRNA 339 14691248,15325244,15634332,16381832,17604727,19520829,20889907 442907 AC073957,CH236965,NR_029898 MIRN339|hsa-mir-339 miscrna 1348329 MIR33A microRNA 33a MicroRNAs (miRNAs), such as miRNA33A, are 20- to 23-nucleotide RNAs that regulate gene expression posttranscriptionally by mediating sequence-specific repression of mRNA translation (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 20566875,16381832,17604727,11679670,20466882,20732877 407039 NR_029507,Z99716,AJ421755 MIR33|MIRN33|MIRN33A|hsa-mir-33|hsa-mir-33a|miR-33|miRNA33A miscrna 1603136 MIR33B microRNA 33b 16381832,16505370,17604727,20466882 693120 AC122129,NR_030361 MIRN33B|hsa-mir-33b miscrna 1352110 MIR340 microRNA 340 14691248,15634332,16381832,17604727 442908 NR_029885,AC026413 MIRN340|hsa-mir-340 miscrna 1348172 MIR342 microRNA 342 19954774,14691248,15634332,16381832,17604727,17616659,18230126,20448109 442909 NR_029888,AL133523 MIRN342|hsa-mir-342 miscrna 1343414 MIR345 microRNA 345 15634332,15978578,16381832,17604727,14691248 442910 NR_029906,AL157871 MIRN345|hsa-mir-345 miscrna 1352152 MIR346 microRNA 346 MicroRNAs are small noncoding RNAs that regulate translation and stability of their target mRNAs (Lagos-Quintana et al., 2003) [PubMed 12554859].[supplied by OMIM] 14691248,15634332,16381832,20889907,19342689,12554859 442911 AL732479,NR_029907 MIRN346|hsa-mir-346|miR-346|miRNA346 miscrna 1343452 MIR34A microRNA 34a MicroRNAs (miRNAs), such as MIRN34A, are short noncoding regulatory RNA molecules that modulate protein expression by promoting RNA degradation, inhibiting mRNA translation, and altering transcription (Raver-Shapira et al., 2007 [PubMed 17540598]).[supplied by OMIM] 18505919,18504438,18451145,18406353,17888029,17875987,17554199,17540599,17540598,17297439,12554860,12624257,16381832,17604727,17616659,20186752,18803879,19443717,19584398,19643983,19736307,19921694,20089965,20118199,20130213,20299489,20351093,20627091,19398721,19347736,19258450,19158830,19006648,18941118,18834855,18818704,18755897,18719384,19461653,19696787,20442590,19632201,19714243,20689156,20470934,20466628,20889907 407040 AL591166,AJ550399,AY194151,NR_029610,EF592573,EF609116 MIRN34A|miRNA34A|mir-34 miscrna 1352034 MIR34B microRNA 34b MicroRNAs (miRNAs), such as MIRN34B, enforce posttranscriptional silencing through the RNA interference pathway (He et al., 2007 [PubMed 17554337]).[supplied by OMIM] 19632201,20889907,19536169,12919684,16381832,17604727,18519671,18451145,17554337,19461653 407041 AP002008,NR_029839 MIRN34B|miRNA34B miscrna 1348685 MIR34C microRNA 34c MicroRNAs (miRNAs), such as MIRN34C, enforce posttranscriptional silencing through the RNA interference pathway (He et al., 2007 [PubMed 17554337]).[supplied by OMIM] 18519671,17554337,12919684,16381832,17604727,19536169,20198305,20212154,18451145,19461653,19632201 407042 AP002008,NR_029840 MIRN34C|miRNA34C miscrna 4888815 MIR3605 microRNA 3605 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791,20459774 100500853 AL513327,NR_037400 miscrna 4888828 MIR3606 microRNA 3606 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500837 AC066694,NR_037401 miscrna 4888864 MIR3607 microRNA 3607 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500805 AC108110,NR_037402 miscrna 4888847 MIR3609 microRNA 3609 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500819 AC004991,NR_037403 miscrna 1346686 MIR361 microRNA 361 15538371,16381832,17604727,18230126 494323 AL022401,NR_029848 MIRN361|hsa-mir-361 miscrna 4888767 MIR3610 microRNA 3610 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500914 AC087350,NR_037404 miscrna 4888791 MIR3611 microRNA 3611 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500890 AL392046,NR_037405 miscrna 4888846 MIR3612 microRNA 3612 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500817 AC061709,NR_037406 miscrna 4888760 MIR3613 microRNA 3613 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500908 AL391993,NR_037407 miscrna 4888823 MIR3615 microRNA 3615 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500847 AC016888,NR_037409 miscrna 4888853 MIR3616 microRNA 3616 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500814 NR_037410,AL049540 miscrna 4888778 MIR3617 microRNA 3617 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500897 AL109656,NR_037411 miscrna 4888807 MIR3618 microRNA 3618 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500860 AC006547,NR_037412 miscrna 4888838 MIR3619 microRNA 3619 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500828 AL121672,NR_037413 miscrna 1604876 MIR362 microRNA 362 15965474,16274478,16381832,17604727 574030 AY882270,AF222686,NR_029850 MIRN362|hsa-mir-362 miscrna 4888857 MIR3620 microRNA 3620 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500810 AL136379,NR_037415 miscrna 4888854 MIR3621 microRNA 3621 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500811 AL929554,NR_037416 miscrna 4888814 MIR3622A microRNA 3622a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500858 AC013643,NR_037417 miscrna 4888798 MIR3622B microRNA 3622b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500871 AC013643,NR_037418 miscrna 1604875 MIR363 microRNA 363 15965474,16274478,16381832,17604727 574031 AY785932,AC002407,NR_029852 MIRN363|hsa-mir-363 miscrna 4888851 MIR3646 microRNA 3646 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500813 AL132772,NR_037419 miscrna 4888859 MIR3647 microRNA 3647 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500806 AC106804,NR_037420 miscrna 4888813 MIR3648 microRNA 3648 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500862 CR392039,NR_037421 miscrna 4888848 MIR3649 microRNA 3649 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500816 AC005183,NR_037422 miscrna 2290203 MIR365-1 microRNA 365-1 15735639,15965474,16381832,17604727,17616659,19883314 100126355 AY882279,AC040173,NR_029854 MIRN365-1 miscrna 2290202 MIR365-2 microRNA 365-2 15735639,15965474,16381832,17604727,17616659,19144710,19883314 100126356 NR_029856,AC003101 MIRN365-2 miscrna 4888842 MIR3650 microRNA 3650 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500824 AC091823,NR_037423 miscrna 4888762 MIR3651 microRNA 3651 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500918 AL136097,NR_037424 miscrna 4888824 MIR3652 microRNA 3652 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500842 AC078819,NR_037425 miscrna 4888835 MIR3653 microRNA 3653 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500833 AC002059,NR_037426 miscrna 4888844 MIR3655 microRNA 3655 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500820 AC116353,NR_037428 miscrna 4888826 MIR3656 microRNA 3656 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500840 AP003392,NR_037429 miscrna 4888782 MIR3657 microRNA 3657 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500889 AC073575,NR_037430 miscrna 4888841 MIR3658 microRNA 3658 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20483914 100500832 AL358115,NR_037431 miscrna 4888862 MIR3659 microRNA 3659 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20532037 100500801 AL139158,NR_037432 miscrna 4888840 MIR3660 microRNA 3660 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20532037 100500825 AC010599,NR_037433 miscrna 4888766 MIR3661 microRNA 3661 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20532037 100500905 AC104109,NR_037434 miscrna 4888788 MIR3662 microRNA 3662 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20532037 100500880 AL445190,NR_037435 miscrna 4888777 MIR3663 microRNA 3663 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841,20532037 100500893 AL731557,NR_037436 miscrna 4888822 MIR3664 microRNA 3664 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20532037 100500844 AP003783,NR_037437 miscrna 4888809 MIR3665 microRNA 3665 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 15735639,16381832,20559549 100500861 AL354831,NR_037438 miscrna 4888866 MIR3666 microRNA 3666 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 15735639,16381832,20559549 100500896 AC020606,NR_037439 miscrna 4888790 MIR3667 microRNA 3667 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500882 NR_037440,Z97192 miscrna 4888789 MIR3668 microRNA 3668 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500879 AL022477,AL589904,NR_037441 miscrna 1343543 MIR367 microRNA 367 15183728,16274478,20889907,16381832,17604727 442912 NR_029860,AC106864 MIRN367|hsa-mir-367 miscrna 4888816 MIR3671 microRNA 3671 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500854 AL357078,NR_037443 miscrna 4888799 MIR3672 microRNA 3672 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500869 AC007486,NR_037444 miscrna 4888756 MIR3674 microRNA 3674 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500912 AC100810,NR_037445 miscrna 4888794 MIR3675 microRNA 3675 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500876 BX284668,NR_037446 miscrna 4888865 MIR3676 microRNA 3676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500892 AC129492,NR_037447 miscrna 4888852 MIR3677 microRNA 3677 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500812 AC009065,NR_037448 miscrna 4888829 MIR3678 microRNA 3678 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500841 AC011933,NR_037449 miscrna 4888792 MIR3679 microRNA 3679 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791,20459673 100500878 AC115625,NR_037450 miscrna 4888787 MIR3681 microRNA 3681 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500884 AC019090,NR_037452 miscrna 4888818 MIR3682 microRNA 3682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500850 AC008068,NR_037453 miscrna 4888784 MIR3683 microRNA 3683 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500886 AC092104,NR_037454 miscrna 4888800 MIR3684 microRNA 3684 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500867 NR_037455,AC019131 miscrna 4888861 MIR3685 microRNA 3685 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500802 AC084879,NR_037456 miscrna 4888834 MIR3686 microRNA 3686 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500839 AC011257,NR_037457 miscrna 4888863 MIR3687 microRNA 3687 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500815 CR392039,NR_037458 miscrna 4888786 MIR3688 microRNA 3688 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500881 AC095064,NR_037459 miscrna 4888820 MIR3689A microRNA 3689a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791,20459673 100500846 AL603650,NR_037460 miscrna 4888763 MIR3689B microRNA 3689b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500906 AL603650,NR_037469 miscrna 1348667 MIR369 microRNA 369 MicroRNAs, such as MIR369-3, are small noncoding RNAs that recruit an Argonaute (AGO) protein complex to a complementary target mRNA, which results in translation repression or degradation of the mRNA (Vasudevan et al., 2007 [PubMed 18048652]).[supplied by OMIM] 20810544,18048652,15183728,15891114,16274478,16381832,17604727 442914 NR_029862,AL132709 MIR369-3|MIRN369|MIRN369-3|hsa-mir-369 miscrna 4888774 MIR3690 microRNA 3690 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500894 BX649553,NR_037461 miscrna 4888770 MIR3691 microRNA 3691 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500900 AL035653,NR_037462 miscrna 4888773 MIR3692 microRNA 3692 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459673 100500899 AL450328,NR_037463 miscrna 1343857 MIR370 microRNA 370 17621267,15183728,16274478,16381832,17604727,20167074 442915 AL117190,NR_029863 MIRN370|hsa-mir-370 miscrna 1346361 MIR371 microRNA 371 MicroRNAs (miRNAs), such as MIRN371, are small noncoding RNAs that interact with target mRNAs to downregulate gene expression via mRNA degradation or translation inhibition (Voorhoeve et al., 2007 [PubMed 17695719]).[supplied by OMIM] 17695719,15183728,16381832,17604727,20209130 442916 AC008753,NR_029864 MIRN371|hsa-mir-371 miscrna 4888812 MIR3713 microRNA 3713 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20466808 100500855 AC015798,NR_037464 miscrna 4888757 MIR3714 microRNA 3714 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20466808 100500913 AC090943,NR_037465 miscrna 1350950 MIR372 microRNA 372 MicroRNAs (miRNAs), such as MIRN372, are small noncoding RNAs that interact with target mRNAs to downregulate gene expression via mRNA degradation or translation inhibition (Voorhoeve et al., 2007 [PubMed 17695719]).[supplied by OMIM] 17695719,15183728,16381832,17604727,20889907 442917 AC008753,NR_029865 MIRN372|hsa-mir-372 miscrna 1350507 MIR373 microRNA 373 MicroRNAs (miRNAs) are small noncoding RNAs that negatively regulate gene expression by repressing translation or directing sequence-specific degradation of target mRNAs. However, some miRNAs, such as MIRN373, can positively regulate gene expression (Place et al., 2008 [PubMed 18227514]).[supplied by OMIM] 15183728,16381832,17604727,19138993,18227514,17695719,20732906,19501585,19851984 442918 AC008753,NR_029866 MIRN373|hsa-mir-373|miRNA373 miscrna 1353102 MIR374A microRNA 374a 15183728,16274478,16381832,17604727,17616659 442919 AC004386,NR_030785 MIRN374|MIRN374A|hsa-mir-374 miscrna 2290238 MIR374B microRNA 374b 16381832,16954537,17604727,17616659 100126317 AC004386,NR_030620 MIRN374B miscrna 4888858 MIR374C microRNA 374c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500807 AC004386,NR_037511 miscrna 1345165 MIR375 microRNA 375 MicroRNAs (miRNAs), such as MIRN375, are 21-to 23-nucleotide noncoding RNAs processed from double-stranded hairpin precursors that have been identified in the genomes of a wide range of multicellular life forms, including plants and animals (Poy et al., 2004 [PubMed 15538371]). These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 15538371,20548334,16381832,17604727,20226166 494324 AC097468,NR_029867 MIRN375|hsa-mir-375|miRNA375 miscrna 1348680 MIR376A1 microRNA 376a-1 15891114,16274478,16381832,17322061,17604727 494325 AY785912,AL132709,NR_029868 MIR376A-1|MIRN376A|MIRN376A-1|MIRN376A1 microrna 376a miscrna 1606045 MIR376A2 microRNA 376a-2 15891114,16381832,17322061,17604727 664615 AL132709,NR_030266 MIR376A-2|MIRN376A-2|MIRN376A2 miscrna 1603783 MIR376B microRNA 376b 15891114,16381832,17322061,17604727 574435 NR_030157,AL132709 MIRN376B miscrna 1346759 MIR376C microRNA 376c 15183728,15891114,16381832,17322061,17604727 442913 AL132709,NR_029861 MIR368|MIRN368|MIRN376C|hsa-mir-368|miRNA368 miscrna 1342565 MIR377 microRNA 377 18716028,15891114,16274478,16381832,17604727 494326 AL132709,NR_029869,AY882333 MIRN377|hsa-mir-377 miscrna 1345940 MIR378 microRNA 378 MicroRNAs (miRNAs), such as MIRN378, are single-stranded noncoding RNAs of 18 to 24 nucleotides that bind to complementary sequences in the 3-prime UTRs of target mRNAs, resulting in translational repression (Lee et al., 2007 [PubMed 18077375]).[supplied by OMIM] 18077375,15325244,15538371,16381832,17604727,19844573,20889907 494327 AC022100,NR_029870 MIRN378|hsa-mir-378|miRNA378 miscrna 4108977 MIR378B microRNA 378b 16381832,20300190 100422933 AC022384,NR_036084 miscrna 4109041 MIR378C microRNA 378c 16381832,19784364 100422867 AL607076,NR_036180 miscrna 1350916 MIR379 microRNA 379 15538371,15891114,16274478,16381832,17604727 494328 AL132709,NR_029871,AY882324 MIRN379|hsa-mir-379 miscrna 1350037 MIR380 microRNA 380 20871609,15310658,15538371,16381832,17604727 494329 AL132709,NR_029872 MIR380-3p|MIRN380|hsa-mir-380 miscrna 1346769 MIR381 microRNA 381 16274478,16381832,17604727,20167074,20889907 494330 AL132709,AY785922,NR_029873 MIRN381|hsa-mir-381 miscrna 1343561 MIR382 microRNA 382 15891114,16274478,16381832,17604727 494331 AL132709,NR_029874 MIRN382|hsa-mir-382 miscrna 1348316 MIR383 microRNA 383 15538371,16381832,17604727 494332 AC084838,NR_029875 MIRN383|hsa-mir-383 miscrna 1344923 MIR384 microRNA 384 15538371,16381832 494333 Z84470,AC233277,NR_029909 MIRN384|hsa-mir-384 miscrna 4888831 MIR3907 microRNA 3907 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500835 AC005996,NR_037468 miscrna 4888761 MIR3908 microRNA 3908 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500909 AC055713,NR_037470 miscrna 4888839 MIR3909 microRNA 3909 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791,20498841 100500826 AL008635,NR_037471 miscrna 4888843 MIR3910-1 microRNA 3910-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500821 AL159999,NR_037472 miscrna 4888768 MIR3910-2 microRNA 3910-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500902 AL159999,NR_037489 miscrna 4888796 MIR3911 microRNA 3911 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500872 AL162426,NR_037473 miscrna 4888837 MIR3912 microRNA 3912 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500831 AC091980,NR_037474 miscrna 4888765 MIR3913-1 microRNA 3913-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500903 AC018921,NR_037475 miscrna 4888805 MIR3913-2 microRNA 3913-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500868 AC018921,NR_037476 miscrna 4888833 MIR3914-1 microRNA 3914-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500836 AC079398,NR_037477 miscrna 4888771 MIR3914-2 microRNA 3914-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500920 AC079398,NR_037479 miscrna 4888755 MIR3915 microRNA 3915 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500915 AC004468,NR_037478 miscrna 4888819 MIR3916 microRNA 3916 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500849 AL390728,NR_037480 miscrna 4888856 MIR3917 microRNA 3917 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500808 AL033528,NR_037481 miscrna 4888817 MIR3918 microRNA 3918 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500851 AL589931,NR_037482 miscrna 4888860 MIR3919 microRNA 3919 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500803 AC107312,NR_037483 miscrna 4888850 MIR3920 microRNA 3920 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500823 AP003080,NR_037485 miscrna 4888808 MIR3921 microRNA 3921 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500859 AC117419,NR_037486 miscrna 4888825 MIR3922 microRNA 3922 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500843 AC010191,NR_037487 miscrna 4888802 MIR3923 microRNA 3923 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500877 AC117479,NR_037488 miscrna 4888832 MIR3924 microRNA 3924 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500834 AC022541,NR_037490 miscrna 4888783 MIR3925 microRNA 3925 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500885 NR_037491,Z85986 miscrna 4888797 MIR3926-1 microRNA 3926-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500870 AC123777,NR_037492 miscrna 4888830 MIR3926-2 microRNA 3926-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500838 AC123777,NR_037495 miscrna 4888779 MIR3927 microRNA 3927 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500898 AL162733,NR_037493 miscrna 4888769 MIR3928 microRNA 3928 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500901 AC005005,NR_037496 miscrna 4888803 MIR3929 microRNA 3929 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791 100500864 AC118757,NR_037497 miscrna 4888795 MIR3934 microRNA 3934 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500873 AL139044,NR_037498 miscrna 4888776 MIR3935 microRNA 3935 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500891 AC079411,NR_037499 miscrna 4888806 MIR3936 microRNA 3936 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500865 AC008599,NR_037500 miscrna 4888845 MIR3937 microRNA 3937 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500822 AF241734,NR_037501 miscrna 4888793 MIR3938 microRNA 3938 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500875 AC116991,NR_037502 miscrna 4888810 MIR3939 microRNA 3939 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500857 NR_037504,Z94721 miscrna 4888780 MIR3940 microRNA 3940 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500888 AC011491,NR_037505 miscrna 4888801 MIR3941 microRNA 3941 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500866 BX842242,NR_037506 miscrna 4888764 MIR3942 microRNA 3942 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500904 AC019288,NR_037507 miscrna 4888836 MIR3943 microRNA 3943 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500829 AC004455,NR_037508 miscrna 4888758 MIR3944 microRNA 3944 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500911 AL360181,NR_037509 miscrna 4888849 MIR3945 microRNA 3945 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500818 AC084871,NR_037510 miscrna 1603786 MIR409 microRNA 409 15891114,15965474,16274478,16381832,17604727 574413 NR_029975,AL132709 MIRN409|hsa-mir-409 miscrna 1603784 MIR410 microRNA 410 15891114,15965474,15978578,16274478,16381832,17604727 574434 NR_030156,AL132709,AY882266 MIRN410|hsa-mir-410 microrna miscrna 1603135 MIR411 microRNA 411 16381832,16505370,17604727 693121 AL132709,NR_030389 MIRN411|hsa-mir-411 miscrna 1603785 MIR412 microRNA 412 15891114,16381832 574433 NR_030155,AL132709 MIRN412|hsa-mir-412 miscrna 1603134 MIR421 microRNA 421 16381832,16505370,17604727,19802518,20080624 693122 AC004386,NR_030398 MIRN421|hsa-mir-421 miscrna 1352178 MIR422A microRNA 422a 15325244,16381832,17604727,20351063 494334 AC015914,NR_029944 MIRN422A miscrna 1350017 MIR423 microRNA 423 20585341,19138993,15325244,16381832,17604727,17616659,18230126,20158877,19851984,19950226,20185794,20732906 494335 AC104984,AY882274,NR_029945 MIRN423|hsa-mir-423 miscrna 1353446 MIR424 microRNA 424 MicroRNAs (miRNAs) are highly conserved small noncoding RNAs that regulate gene expression through translational repression by basepairing with partially complementary mRNAs. The miRNA424 precursor stem-loop encodes 2 mature miRNAs, miRNA424 and miRNA322, from its 5-prime arm and its 3-prime arm, respectively (Kasashima et al., 2004 [PubMed 15325244]; Ramasamy et al., 2007 [PubMed 17889671]).[supplied by OMIM] 17889671,15325244,16381832,17604727,17616659,20462953,19692702,20972335 494336 AC004383,NR_029946 MIR322|MIRN424|hsa-mir-424|miRNA424 miscrna 1352547 MIR425 microRNA 425 15538371,15891114,16381832,17604727,17616659 494337 NR_029948,AC137630 MIRN425|hsa-mir-425 miscrna 4108945 MIR4251 microRNA 4251 16381832,19784364 100422968 AL008733,NR_036215 miscrna 4108943 MIR4252 microRNA 4252 16381832,19784364 100422975 AL031848,NR_036218 miscrna 4109010 MIR4253 microRNA 4253 16381832,19784364 100422914 AL512444,NR_036214 miscrna 4108871 MIR4254 microRNA 4254 16381832,19784364 100423028 AL354919,NR_036216 miscrna 4109013 MIR4255 microRNA 4255 16381832,19784364 100422898 AL031430,NR_036217 miscrna 4108935 MIR4256 microRNA 4256 16381832,19784364 100422976 AL354760,NR_036210 miscrna 4108963 MIR4257 microRNA 4257 16381832,19784364 100422997 AL356356,NR_036211 miscrna 4108877 MIR4258 microRNA 4258 16381832,19784364 100423020 AL451085,NR_036212 miscrna 4109023 MIR4260 microRNA 4260 16381832,19784364 100422894 AL031316,NR_036213 miscrna 4108979 MIR4261 microRNA 4261 16381832,19784364 100422929 AC007240,NR_036222 miscrna 4108923 MIR4262 microRNA 4262 16381832,19784364 100422996 AC012456,NR_036226 miscrna 4108950 MIR4263 microRNA 4263 16381832,19784364 100422965 AC021171,NR_036230 miscrna 4109021 MIR4264 microRNA 4264 16381832,19784364 100422888 AC096573,NR_036231 miscrna 4109045 MIR4265 microRNA 4265 16381832,19784364 100422863 AC010906,NR_036223 miscrna 4108875 MIR4266 microRNA 4266 16381832,19784364 100423027 AC010906,NR_036224 miscrna 4108918 MIR4267 microRNA 4267 16381832,19784364 100422994 AC013268,NR_036225 miscrna 4108952 MIR4268 microRNA 4268 16381832,19784364 100422959 AC008281,NR_036228 miscrna 4108859 MIR4269 microRNA 4269 16381832,19784364 100423043 AC062017,NR_036229 miscrna 4109039 MIR4270 microRNA 4270 16381832,19784364 100422868 AC027129,NR_036232 miscrna 4108960 MIR4271 microRNA 4271 16381832,19784364 100422952 AC121247,NR_036233 miscrna 4108968 MIR4272 microRNA 4272 16381832,19784364 100422941 AC112515,NR_036234 miscrna 4108954 MIR4273 microRNA 4273 16381832,19784364 100422955 AC108724,NR_036235 miscrna 4109078 MIR4274 microRNA 4274 16381832,19784364 100422826 AC116316,NR_036238 miscrna 4108975 MIR4275 microRNA 4275 16381832,19784364 100422937 AC096566,NR_036237 miscrna 4108885 MIR4276 microRNA 4276 16381832,19784364 100423042 AC122137,NR_036236 miscrna 4108944 MIR4277 microRNA 4277 16381832,19784364 100422966 AC026412,NR_036240 miscrna 4108983 MIR4278 microRNA 4278 16381832,19784364 100422999 AC122710,NR_036242 miscrna 4109035 MIR4279 microRNA 4279 16381832,19784364 100422874 AC025458,NR_036241 miscrna 4109020 MIR4280 microRNA 4280 16381832,19784364 100422887 AC109492,NR_036243 miscrna 4108948 MIR4281 microRNA 4281 16381832,19784364 100422962 NR_036239,AC091934 miscrna 4108889 MIR4282 microRNA 4282 16381832,19784364 100423005 AL360232,NR_036244 miscrna 4108992 MIR4283-1 microRNA 4283-1 16381832,19784364 100422917 AC122133,NR_036246,AC006015 miscrna 4109055 MIR4283-2 microRNA 4283-2 16381832,19784364 100422848 AC006015,NR_036270,AC069152 miscrna 4108961 MIR4284 microRNA 4284 16381832,19784364 100422948 AC073846,NR_036247 miscrna 4109049 MIR4285 microRNA 4285 16381832,19784364 100422858 AC005088,NR_036245 miscrna 4108930 MIR4286 microRNA 4286 16381832,19784364 100422982 AC105001,NR_036248 miscrna 4109074 MIR4287 microRNA 4287 16381832,19784364 100422828 AC069113,NR_036249 miscrna 4109011 MIR4288 microRNA 4288 16381832,19784364 100422903 AC011132,NR_036250 miscrna 4108881 MIR4289 microRNA 4289 16381832,19784364 100423015 AL390791,NR_036252 miscrna 1605756 MIR429 microRNA 429 MicroRNAs (miRNAs), such as MIRN429, are 20- to 22-nucleotide noncoding RNAs that inhibit gene expression at the posttranscriptional level by binding to complementary sequences in the 3-prime UTRs of target mRNAs (Park et al., 2008 [PubMed 18381893]).[supplied by OMIM] 15735639,15891114,16381832,17604727,17616659,20484493,18381893,20514023,19501389,19801681,20668090 554210 AL390719,NR_029957 MIRN429|hsa-mir-429 miscrna 4108949 MIR4290 microRNA 4290 16381832,19784364 100422963 AL161629,NR_036253 miscrna 4108982 MIR4291 microRNA 4291 16381832,19784364 100422927 AL442224,NR_036254 miscrna 4109046 MIR4292 microRNA 4292 16381832,19784364 100422860 AL355987,NR_036251 miscrna 4109062 MIR4293 microRNA 4293 16381832,19784364 100422843 AL139405,NR_036181 miscrna 4109014 MIR4294 microRNA 4294 16381832,19784364 100422895 AC060234,NR_036182 miscrna 4108997 MIR4295 microRNA 4295 16381832,19784364 100422909 AL139120,NR_036177 miscrna 4108898 MIR4296 microRNA 4296 16381832,19784364 100423041 AL731571,NR_036178 miscrna 4109033 MIR4297 microRNA 4297 16381832,19784364 100422873 AL354950,NR_036179 miscrna 4108876 MIR4298 microRNA 4298 16381832,19784364 100423021 AC051649,NR_036185 miscrna 4108886 MIR4299 microRNA 4299 16381832,19784364 100423026 AC131935,NR_036184 miscrna 4109082 MIR4300 microRNA 4300 16381832,19784364 100422823 AP002802,NR_036186 miscrna 4109052 MIR4301 microRNA 4301 16381832,19784364 100422855 AP002840,NR_036183 miscrna 4109017 MIR4302 microRNA 4302 16381832,19784364 100422897 AC019209,NR_036188 miscrna 4108986 MIR4303 microRNA 4303 16381832,19784364 100422924 AC007297,NR_036189 miscrna 4108981 MIR4304 microRNA 4304 16381832,19784364 100422931 AC026362,NR_036187 miscrna 4108970 MIR4305 microRNA 4305 16381832,19784364 100422940 AL512505,NR_036190 miscrna 4109085 MIR4306 microRNA 4306 16381832,19784364 100422861 AL359748,NR_036191 miscrna 4108878 MIR4307 microRNA 4307 16381832,19784364 100423019 AL110292,NR_036193 miscrna 4108928 MIR4308 microRNA 4308 16381832,19784364 100422984 AL160471,NR_036194 miscrna 4108956 MIR4309 microRNA 4309 16381832,19784364 100422954 AL136293,NR_036192 miscrna 1604871 MIR431 microRNA 431 MicroRNAs (miRNAs), such as MIRN431, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 16381832,17604727,15891114 574038 AL117190,NR_029965 MIRN431|hsa-mir-431|miRNA431 miscrna 4108883 MIR4310 microRNA 4310 16381832,19784364 100423013 AC020659,NR_036195 miscrna 4109004 MIR4311 microRNA 4311 16381832,19784364 100422905 AC011847,NR_036196 miscrna 4108941 MIR4312 microRNA 4312 16381832,19784364 100422971 AC087639,NR_036197 miscrna 4108863 MIR4313 microRNA 4313 16381832,19784364 100423035 AC019294,NR_036198 miscrna 4108929 MIR4314 microRNA 4314 16381832,19784364 100422983 AC129492,NR_036201 miscrna 4108895 MIR4315-1 microRNA 4315-1 16381832,19784364 100423004 AC091132,NR_036199 miscrna 4108951 MIR4315-2 microRNA 4315-2 16381832,19784364 100422961 AC103810,NR_036271 miscrna 4109054 MIR4316 microRNA 4316 16381832,19784364 100422851 AC111182,NR_036200 miscrna 4109071 MIR4317 microRNA 4317 16381832,19784364 100422840 AP005060,NR_036205 miscrna 4109051 MIR4318 microRNA 4318 16381832,19784364 100422857 AC009899,NR_036202 miscrna 4109075 MIR4319 microRNA 4319 16381832,19784364 100422829 AC105074,NR_036203 miscrna 1603771 MIR432 microRNA 432 15965474,16274478,16381832,17604727 574451 NR_030173,AY785934,AL117190 MIRN432|hsa-mir-432 miscrna 4109040 MIR4320 microRNA 4320 16381832,19784364 100422865 AC105224,NR_036204 miscrna 4108865 MIR4321 microRNA 4321 16381832,19784364 100423031 AC005263,NR_036207 miscrna 4108987 MIR4322 microRNA 4322 16381832,19784364 100422925 AC011511,NR_036206 miscrna 4108939 MIR4323 microRNA 4323 16381832,19784364 100422980 AC010247,NR_036208 miscrna 4108936 MIR4324 microRNA 4324 16381832,19784364 100422979 AC011450,NR_036209 miscrna 4109024 MIR4325 microRNA 4325 16381832,19784364 100422883 AL135939,NR_036219 miscrna 4108965 MIR4326 microRNA 4326 16381832,19784364 100422945 AL121827,NR_036220 miscrna 4109016 MIR4327 microRNA 4327 16381832,19784364 100422891 AP000885,NR_036221 miscrna 4108976 MIR4328 microRNA 4328 16381832,19784364 100422932 NR_036258,Z82200 miscrna 4108887 MIR4329 microRNA 4329 16381832,19784364 100423009 AC004827,NR_036255 miscrna 1604872 MIR433 microRNA 433 MicroRNAs (miRNAs), such as MIRN433, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 16381832,17604727,20181727,19531230,15891114,19946636,20471450 574034 AL117190,NR_029966 MIRN433|hsa-mir-433|miRNA433 miscrna 4108980 MIR4330 microRNA 4330 16381832,19784364 100422930 AF003625,NR_036256 miscrna 1605755 MIR448 microRNA 448 15735639,16381832 554212 AL590097,NR_029955 MIRN448|hsa-mir-448|miRNA448 miscrna 1605754 MIR449A microRNA 449a 15735639,16381832,17604727,19252524,19960022,20356416 554213 AC091977,NR_029960 MIRN449|MIRN449A|hsa-mir-449 miscrna 1603133 MIR449B microRNA 449b 16381832,16505370,17604727,19144710,19960022 693123 AC091977,NR_030387 MIRN449B miscrna 3476300 MIR449C microRNA 449c 16381832,16954537,19390579 100313923 AC091977,NR_031572 miscrna 1605753 MIR450A1 microRNA 450a-1 15735639,15965474,16274478,16381832,17604727 554214 AC004383,NR_029962 MIRN450|MIRN450-1|MIRN450A-1|MIRN450A1|hsa-mir-450 miscrna 1603436 MIR450A2 microRNA 450a-2 15735639,15965474,16274478,16381832,17604727 574505 AC004383,NR_030227 MIRN450-2|MIRN450A-2|MIRN450A2 miscrna 2290251 MIR450B microRNA 450b 16381832,17604727 100126302 AC004383,NR_030587 MIRN450B miscrna 1603788 MIR451 microRNA 451 MicroRNAs (miRNAs), such as MIRN451, are noncoding RNAs of about 22 nucleotides that bind complementary sequences in the 3-prime UTRs of target mRNAs to induce nucleolytic degradation or inhibit translation. The primary miRNA transcript (pri-miRNA) that encodes MIRN451 also encodes MIRN144 (MIM 612070) (Dore et al., 2008 [PubMed 18303114]).[supplied by OMIM] 15891114,16274478,16381832,17604727,20218812,20075508,20227367,19318487,18645025,18619946,18303114,17964546,20461517,20699384,20816946 574411 NR_029970,AC024267 MIRN451|hsa-mir-451 miscrna 1603787 MIR452 microRNA 452 19127597,15891114,15965474,16274478,16381832,17604727,17616659 574412 NR_029973,AF274855,AY785920,AY882269 MIRN452|hsa-mir-452 miscrna 1603789 MIR453 microRNA 453 574410 NR_029969,AL132709 MIRN453|hsa-mir-453 miscrna 2290264 MIR454 microRNA 454 16381832,16954537,17604727 768216 AC099850,NR_030411 MIRN454|hsa-mir-454 miscrna 1604864 MIR455 microRNA 455 15652478,16381832,17604727,17616659 619556 AL445543,NR_030255 MIRN455|hsa-mir-455 miscrna 1604868 MIR483 microRNA 483 15978578,16381832,17604727,20388800 619552 AC132217,NR_030158 MIRN483|hsa-mir-483 miscrna 1604867 MIR484 microRNA 484 15978578,16381832,17604727,17616659 619553 AC026401,NR_030159 MIRN484|hsa-mir-484 miscrna 1603782 MIR485 microRNA 485 15965474,15978578,16381832,17604727 574436 NR_030160,AL132709,AY882307,AY882335 MIRN485|hsa-mir-485 miscrna 1604866 MIR486 microRNA 486 15978578,16381832,17604727,19475450 619554 AC113133,NR_030161 MIRN486|hsa-mir-486 miscrna 1604865 MIR487A microRNA 487a 15978578,16274478,16381832,17604727 619555 AL132709,NR_030162 MIRN487|MIRN487A|hsa-mir-487 miscrna 1606044 MIR487B microRNA 487b 16274478,16381832,17604727 664616 AL132709,NR_030267 MIRN487B miscrna 1603781 MIR488 microRNA 488 15965474,16381832,17604727 574441 NR_030163,AL022145 MIRN488|hsa-mir-488 miscrna 1603780 MIR489 microRNA 489 15965474,16381832,17604727,20700123 574442 NR_030164,AC003078,AY882328,CH236949 MIRN489|hsa-mir-489 miscrna 1603779 MIR490 microRNA 490 15965474,16381832,17604727,18230126 574443 NR_030165,AC009264,CH236950,AY882316 MIRN490|hsa-mir-490 miscrna 1603778 MIR491 microRNA 491 20039318,15965474,16381832,17604727,17616659 574444 NR_030166,AL445624 MIRN491|hsa-mir-491 miscrna 1603773 MIR492 microRNA 492 19851984,15965474,16381832,19138993,20732906 574449 NR_030171,AC117494 MIRN492|hsa-mir-492 miscrna 1603772 MIR493 microRNA 493 15965474,16274478,16381832,17604727 574450 NR_030172,AL117190 MIRN493|hsa-mir-493 miscrna 1603770 MIR494 microRNA 494 15965474,16274478,16381832,17604727 574452 NR_030174,AL132709 MIRN494|hsa-mir-494 miscrna 1603769 MIR495 microRNA 495 15965474,16381832,17604727 574453 NR_030175,AL132709 MIRN495|hsa-mir-495 miscrna 1603768 MIR496 microRNA 496 15965474,16381832,17604727 574454 NR_030176,AL132709 MIRN496|hsa-mir-496 miscrna 1603766 MIR497 microRNA 497 18677302,15965474,16381832,17604727 574456 NR_030178,AC040977,AY785913 MIRN497|hsa-mir-497 miscrna 1603762 MIR498 microRNA 498 15965474,16381832,17604727 574460 NR_030182,AY882319,AC011453 MIRN498|hsa-mir-498 miscrna 1603440 MIR499 microRNA 499 19514064,15965474,16381832,17604727,20842445,20845080,20848167,21073609,19847796,19881472,20081117,20154144,20488170,20549817 574501 AL132825,NR_030223 MIRN499|hsa-mir-499 miscrna 1603439 MIR500 microRNA 500 15965474,16381832,17604727,19863192 574502 AF222686,AY882306,NR_030224 MIR500|MIRN500|hsa-mir-500|hsa-mir-500a miscrna 4109001 MIR500B microRNA 500b 16381832,19784364 100422911 AF222686,NR_036257 miscrna 1603438 MIR501 microRNA 501 15965474,16381832,17604727 574503 AF222686,AY882271,NR_030225 MIRN501|hsa-mir-501 miscrna 1603437 MIR502 microRNA 502 15965474,16381832,17604727,19789321 574504 AF222686,AY882317,NR_030226 MIRN502|hsa-mir-502 miscrna 1603435 MIR503 microRNA 503 19538740,15965474,16274478,16381832,17604727,20462953 574506 AC004383,NR_030228,AY882283 MIRN503|hsa-mir-503 miscrna 1603434 MIR504 microRNA 504 15965474,16381832,17604727,20542001 574507 Z82193,AY882272,NR_030229 MIRN504|hsa-mir-504 miscrna 1603433 MIR505 microRNA 505 15965474,16381832,17604727,17616659 574508 AL590077,AY785933,NR_030230 MIRN505|hsa-mir-505 miscrna 1603430 MIR506 microRNA 506 15965474,16381832 574511 AL589669,NR_030233,AY882284 MIRN506|hsa-mir-506 miscrna 1603429 MIR507 microRNA 507 15965474,16381832,17604727 574512 AL589669,AY882330,NR_030234 MIRN507|hsa-mir-507 miscrna 1603428 MIR508 microRNA 508 15965474,16381832,17604727 574513 AL589669,AY882309,NR_030235 MIRN508|hsa-mir-508 miscrna 1603427 MIR509-1 microRNA 509-1 15965474,16381832,17573847,17604727 574514 AL589669,NR_030236,AY882285 MIRN509|MIRN509-1|hsa-mir-509 microrna 509 miscrna 2290252 MIR509-2 microRNA 509-2 15965474,16381832,17573847,17604727 100126301 AL589669,NR_030586 MIRN509-2 miscrna 2290219 MIR509-3 microRNA 509-3 15965474,16381832,17573847,17604727 100126337 AL589669,NR_030629 MIRN509-3 miscrna 1603426 MIR510 microRNA 510 15965474,16381832,17604727,18614545,19954774 574515 AY882334,AL589669,NR_030237 MIRN510|hsa-mir-510 miscrna 1603777 MIR511-1 microRNA 511-1 15965474,16381832 574445 NR_030167,AL928580 MIRN511-1 miscrna 1603776 MIR511-2 microRNA 511-2 15965474,16381832 574446 NR_030168,AC069023 MIRN511-2 miscrna 1603764 MIR512-1 microRNA 512-1 15965474,16381832,17604727,19503096,20372864 574458 NR_030180,AY882301,AY882302,AC011453 MIRN512-1 miscrna 1603763 MIR512-2 microRNA 512-2 15965474,16381832,17604727,19503096,20372864 574459 NR_030181,AC011453 MIRN512-2 miscrna 1603432 MIR513A1 microRNA 513a-1 15965474,16381832,17604727 574509 AL589669,AY882311,NR_030231 MIRN513-1|MIRN513A1 microrna 513-1 miscrna 1603431 MIR513A2 microRNA 513a-2 15965474,16381832,17604727 574510 AL589669,NR_030232 MIRN513-2|MIRN513A-2|MIRN513A2|hsa-mir-513a-2 microrna 513-2 miscrna 3497335 MIR513B microRNA 513b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,17416744 100313822 AL589669,NR_031708 MIRN513B miscrna 2974685 MIR513C microRNA 513c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,17416744 100302114 AL589669,NR_031709 MIRN513C|hsa-mir-513c miscrna 1603425 MIR514-1 microRNA 514-1 15965474,16381832,17604727 574516 AL591022,AY882310,NR_030238 MIRN514-1 miscrna 1603424 MIR514-2 microRNA 514-2 15965474,16381832,17604727 574517 AL591022,NR_030239 MIRN514-2 miscrna 1603423 MIR514-3 microRNA 514-3 15965474,16381832,17604727 574518 AL591022,NR_030240 MIRN514-3 miscrna 4109060 MIR514B microRNA 514b 16381832,20300190,20224791,20459774 100422847 AL589669,NR_036173 miscrna 1603760 MIR515-1 microRNA 515-1 15965474,16381832,17604727 574462 NR_030184,AY785919,AY785947,AC011453 MIRN515-1 miscrna 1603757 MIR515-2 microRNA 515-2 15965474,16381832,17604727 574465 NR_030187,AC011453 MIRN515-2 miscrna 1603725 MIR516A1 microRNA 516a-1 15965474,16381832,17604727 574498 AC011453,NR_030220 MIRN516-1|MIRN516A-1|MIRN516A1 miscrna 1603724 MIR516A2 microRNA 516a-2 15965474,16381832,17604727 574499 AC011453,NR_030221 MIRN516-2|MIRN516A-2|MIRN516A2 miscrna 1603733 MIR516B1 microRNA 516b-1 15965474,16381832,17604727 574490 AC011453,NR_030212 MIRN516-4|MIRN516B-1|MIRN516B1 miscrna 1603738 MIR516B2 microRNA 516b-2 15965474,16381832,17604727 574485 AY785941,AC011453,NR_030207 MIRN516-3|MIRN516B-2|MIRN516B2 miscrna 1603744 MIR517A microRNA 517a 15965474,16381832,17604727,20209130 574479 AY882296,AC011453,NR_030201 MIRN517A miscrna 1603740 MIR517B microRNA 517b 15965474,16381832 574483 AY882289,AC011453,NR_030205 MIRN517B miscrna 1603731 MIR517C microRNA 517c 15965474,16381832,17604727,19962671 574492 AC011453,AY785929,NR_030214 MIRN517C miscrna 1603735 MIR518A1 microRNA 518a-1 15965474,16381832,17604727 574488 AC011453,AY785914,AY882297,NR_030210 MIRN518A-1|MIRN518A1 miscrna 1603732 MIR518A2 microRNA 518a-2 15965474,16381832,17604727 574491 AC011453,NR_030213 MIRN518A-2|MIRN518A2 miscrna 1603749 MIR518B microRNA 518b 15965474,16381832,17604727 574474 AC011453,AY785930,NR_030196 MIRN518B miscrna 1603746 MIR518C microRNA 518c 15965474,16381832,17604727 574477 AY785931,AC011453,NR_030199 MIRN518C miscrna 1603734 MIR518D microRNA 518d 15965474,16381832,17604727 574489 AC011453,AY785916,NR_030211 MIRN518D miscrna 1603736 MIR518E microRNA 518e 15965474,16381832,17604727 574487 AC011453,AY785923,NR_030209 MIRN518E miscrna 1603751 MIR518F microRNA 518f 15965474,16381832,17604727 574472 AC011453,AY785915,AY882327,NR_030194 MIRN518F miscrna 1603727 MIR519A1 microRNA 519a-1 15965474,16381832,17604727,19088191,20209130 574496 AC011453,NR_030218 MIRN519A-1|MIRN519A1 miscrna 1603441 MIR519A2 microRNA 519a-2 19088191,15965474,16381832,17604727 574500 AC011453,NR_030222 MIRN519A-2|MIRN519A2 miscrna 1603753 MIR519B microRNA 519b 15965474,16381832,17604727,19088191 574469 AC011453,AY882331,NR_030191 MIRN519B miscrna 1603756 MIR519C microRNA 519c 18573883,19088191,19825807,20233879,15965474,16381832,17604727 574466 NR_030188,AY882286,AY882326,AC011453 MIRN519C miscrna 1603743 MIR519D microRNA 519d 15965474,16381832,17604727 574480 AY785939,AC011453,NR_030202 MIRN519D miscrna 1603759 MIR519E microRNA 519e 15965474,16381832,17604727 574463 NR_030185,AY785925,AY785938,AC011453 MIRN519E miscrna 1603755 MIR520A microRNA 520a 15965474,16381832,17604727 574467 NR_030189,AY785926,AY882292,AC011453 MIRN520A miscrna 1603750 MIR520B microRNA 520b 15965474,16381832 574473 AY785927,AY882300,AC011453,NR_030195 MIRN520B miscrna 1603747 MIR520C microRNA 520c 15965474,16381832,17604727 574476 AC011453,NR_030198 MIRN520C miscrna 1603741 MIR520D microRNA 520d 15965474,16381832,17604727 574482 AC011453,AY785937,NR_030204 MIRN520D miscrna 1603761 MIR520E microRNA 520e 15965474,16381832 574461 NR_030183,AC011453,AY882267 MIRN520E miscrna 1603758 MIR520F microRNA 520f 15965474,16381832 574464 NR_030186,AY785940,AC011453 MIRN520F miscrna 1603739 MIR520G microRNA 520g 15965474,16381832,17604727,19962671 574484 AY785945,AC011453,NR_030206 MIRN520G miscrna 1603730 MIR520H microRNA 520h 15965474,16381832 574493 AC011453,AY785928,NR_030215 MIRN520H miscrna 1603729 MIR521-1 microRNA 521-1 15965474,16381832,17604727 574494 AC011453,NR_030216 MIRN521-1 miscrna 1603742 MIR521-2 microRNA 521-2 15965474,16381832,17604727 574481 AC011453,NR_030203,AY882329 MIRN521-2 miscrna 1603728 MIR522 microRNA 522 15965474,16381832,17604727,17616659 574495 AC011453,AY785936,NR_030217 MIRN522|hsa-mir-522 miscrna 1603752 MIR523 microRNA 523 15965474,16381832,17604727 574471 AC011453,AY785942,NR_030193 MIRN523|hsa-mir-523 miscrna 1603745 MIR524 microRNA 524 15965474,16381832,17604727 574478 AY785918,AY882291,AC011453,NR_030200 MIRN524|hsa-mir-524 miscrna 2313003 MIR525 microRNA 525 15965474,16381832,17604727 574470 AY785917,AY882303,AC011453,NR_030192 MIRN525|hsa-mir-525 miscrna 1603748 MIR526A1 microRNA 526a-1 15965474,16381832,17604727 574475 AY882336,AC011453,NR_030197 MIRN526A-1|MIRN526A1 miscrna 1603737 MIR526A2 microRNA 526a-2 15965474,16381832,17604727 574486 AC011453,NR_030208 MIRN526A-2|MIRN526A2 miscrna 1603754 MIR526B microRNA 526b 15965474,16381832,17604727 574468 NR_030190,AY882287,AC011453 MIRN526B miscrna 1603726 MIR527 microRNA 527 15965474,16381832,17604727 574497 AC011453,NR_030219 MIRN527|hsa-mir-527 miscrna 1603132 MIR532 microRNA 532 16381832,17604727,17616659,19336521 693124 AF222686,NR_030241 MIRN532|hsa-mir-532 miscrna 1606048 MIR539 microRNA 539 20592104,16274478,16381832,16973894,17604727 664612 AL132709,NR_030256 MIRN539|hsa-mir-539 miscrna 2290246 MIR541 microRNA 541 16381832,17604727 100126308 AL132709,NR_030594 MIRN541|hsa-mir-541 miscrna 1606043 MIR542 microRNA 542 16274478,16381832,17604727,17616659,20728447 664617 NR_030399,AC004383 MIRN542|hsa-mir-542 miscrna 2313004 MIR543 microRNA 543 16381832,16954537,17604727 100126335 AL132709,NR_030619 MIRN543|hsa-mir-543 miscrna 1606047 MIR544 microRNA 544 16274478,16381832,17604727 664613 AL132709,NR_030257 MIRN544|hsa-mir-544 miscrna 4109043 MIR544B microRNA 544b 20300190,16381832 100422864 AC022336,NR_036088 miscrna 1606046 MIR545 microRNA 545 16274478,16381832,17604727 664614 AC004386,NR_030258 MIRN545|hsa-mir-545 miscrna 1603131 MIR548A1 microRNA 548a-1 16381832,16505370,17604727 693125 AL023655,NR_030312 MIRN548A1 miscrna 1603130 MIR548A2 microRNA 548a-2 16381832,16505370,17604727 693126 AL023693,NR_030317 MIRN548A2 miscrna 1603129 MIR548A3 microRNA 548a-3 16381832,16505370,17604727 693127 AP002847,NR_030330 MIRN548A3 miscrna 4888804 MIR548AA1 microRNA 548aa-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500863 AC021305,NR_037516 miscrna 4888775 MIR548AA2 microRNA 548aa-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500895 AC110921,NR_037517 miscrna 1603128 MIR548B microRNA 548b 16381832,16505370,17604727 693128 AL137009,NR_030315 MIRN548B miscrna 1603127 MIR548C microRNA 548c 16381832,16505370,17604727 693129 AC078962,NR_030347 MIRN548C miscrna 1603126 MIR548D1 microRNA 548d-1 16381832,16505370,17604727,19486885 693130 AC021305,NR_030382 MIRN548D1 miscrna 1603125 MIR548D2 microRNA 548d-2 16381832,16505370,17604727,19486885 693131 AC110921,NR_030385 MIRN548D2 miscrna 3476301 MIR548E microRNA 548e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313921 AL158163,NR_031614 MIRN548E|hsa-mir-548e miscrna 2974670 MIR548F1 microRNA 548f-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302192 AL391356,NR_031642 MIR548F-1|MIRN548F1|hsa-mir-548f-1 miscrna 3516314 MIR548F2 microRNA 548f-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313771 AC092680,NR_031643 MIR548F-2|MIRN548F2|hsa-mir-548f-2 miscrna 2974678 MIR548F3 microRNA 548f-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302159 AC012622,NR_031644 MIR548F-3|MIRN548F3|hsa-mir-548f-3 miscrna 3497319 MIR548F4 microRNA 548f-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313895 AC073273,NR_031645 MIR548F-4|MIRN548F4|hsa-mir-548f-4 miscrna 2946921 MIR548F5 microRNA 548f-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302239 AC004468,NR_031646 MIR548F-5|MIRN548F5|hsa-mir-548f-5 miscrna 3476299 MIR548G microRNA 548g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313938 AC010683,NR_031662 MIRN548G|hsa-mir-548g miscrna 3497332 MIR548H1 microRNA 548h-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313830 AL355094,NR_031677 MIR548H-1|MIRN548H1 miscrna 3516311 MIR548H2 microRNA 548h-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313773 AC009121,NR_031678 MIR548H-2|MIRN548H2 miscrna 2946907 MIR548H3 microRNA 548h-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302287 AC005411,NR_031679 MIR548H-3|MIRN548H3|hsa-mir-548h-3 miscrna 3497323 MIR548H4 microRNA 548h-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313884 AC067904,NR_031680 MIR548H-4|MIRN548H4|hsa-mir-548h-4 miscrna 2946928 MIR548I1 microRNA 548i-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302204 AC092902,NR_031687 MIR548I-1|MIRN548I1|hsa-mir-548i-1 miscrna 2946913 MIR548I2 microRNA 548i-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302277 AC116655,NR_031688 MIR548I-2|MIRN548I2|hsa-mir-548i-2 miscrna 2974672 MIR548I3 microRNA 548i-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302186 AC105233,NR_031689 MIR548I-3|MIRN548I3|hsa-mir-548i-3 miscrna 2974671 MIR548I4 microRNA 548i-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302191 AL389887,NR_031690 MIR548I-4|MIRN548I4|hsa-mir-548i-4 miscrna 3476302 MIR548J microRNA 548j microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313914 NR_031615,Z95115 MIRN548J|hsa-mir-548j miscrna 3516313 MIR548K microRNA 548k microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313770 AP002336,NR_031624 MIRN548K miscrna 2946914 MIR548L microRNA 548l microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302275 AP000786,NR_031630 MIRN548L|hsa-mir-548l miscrna 3516310 MIR548M microRNA 548m microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313772 AL390966,NR_031667 MIRN548M miscrna 2974679 MIR548N microRNA 548n microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302152 AC005271,NR_031666 MIRN548N|hsa-mir-548n miscrna 3497333 MIR548O microRNA 548o microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100313829 AC073517,NR_031669,AC093668 MIRN548O miscrna 2946906 MIR548P microRNA 548p microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,18285502 100302288 AC117530,NR_031686 MIRN548P|hsa-mir-548p miscrna 3497326 MIR548Q microRNA 548q 16381832,19390579 100313841 AL731559,NR_031752 miscrna 4109064 MIR548S microRNA 548s 16381832,20300190 100422862 AC012456,NR_036071 miscrna 4109065 MIR548T microRNA 548t 16381832,20300190,20532037 100422849 AC097534,NR_036093 miscrna 4109037 MIR548U microRNA 548u 16381832,20300190 100422884 AL121975,NR_036097 miscrna 4109056 MIR548V microRNA 548v 16381832,20300190 100422850 AC124069,NR_036103 miscrna 4109919 MIR548W microRNA 548w 16381832,20300190 100422923 AC093516,NG_005591,NR_036146 miscrna 4108995 MIR548X microRNA 548x 16381832,20300190 100422920 AP001537,NR_036166 miscrna 4888754 MIR548Y microRNA 548y microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20498841 100500919 AL162551,NR_037503 miscrna 4888811 MIR548Z microRNA 548z microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500856 NR_037515,AC078962 miscrna 1603124 MIR549 microRNA 549 16381832,16505370 693132 AC027808,NR_030393 MIRN549|hsa-mir-549 miscrna 1603123 MIR550-1 microRNA 550-1 16505370,17604727,16381832 693133 AC006978,NR_030319 MIR550-1|MIRN550-1|hsa-mir-550a-1 miscrna 1603122 MIR550-2 microRNA 550-2 16381832,16505370,17604727 693134 AC018645,NR_030320 MIR550-2|MIRN550-2|hsa-mir-550a-2 miscrna 4888785 MIR550B1 microRNA 550b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500883 AC006978,NR_037513 miscrna 1603121 MIR551A microRNA 551a 16381832,16505370 693135 AL513320,NR_030277 MIRN551A miscrna 1603120 MIR551B microRNA 551b 16381832,16505370,17604727 693136 AC018356,NR_030294 MIRN551B miscrna 1603119 MIR552 microRNA 552 16381832,16505370 693137 AC099565,NR_030278 MIRN552|hsa-mir-552 miscrna 1603118 MIR553 microRNA 553 16381832,16505370 693138 AL663111,NR_030279 MIRN553|hsa-mir-553 miscrna 1603117 MIR554 microRNA 554 16381832,16505370 693139 AL365436,NR_030280 MIRN554|hsa-mir-554 miscrna 1603116 MIR555 microRNA 555 16381832,16505370 693140 AL139410,NR_030282 MIRN555|hsa-mir-555 miscrna 1603115 MIR556 microRNA 556 16381832,16505370,17604727 693141 AL512785,NR_030283 MIRN556|hsa-mir-556 miscrna 1603114 MIR557 microRNA 557 16381832,16505370 693142 AL022100,NR_030284 MIRN557|hsa-mir-557 miscrna 2312881 MIR558 microRNA 558 16381832,16505370 693143 AL133243,NR_030285 MIRN558|hsa-mir-558 miscrna 1603113 MIR559 microRNA 559 16381832,16505370,19486885 693144 AC079775,NR_030286 MIRN559|hsa-mir-559 miscrna 1603111 MIR561 microRNA 561 16381832,16505370,17604727 693146 AC104131,NR_030287 MIRN561|hsa-mir-561 miscrna 1603110 MIR562 microRNA 562 16381832,16505370,19789318 693147 AC138658,NR_030288 MIRN562|hsa-mir-562 miscrna 1603109 MIR563 microRNA 563 16381832,16505370 693148 AC090945,NR_030289 MIRN563|hsa-mir-563 miscrna 1603108 MIR564 microRNA 564 16381832,16505370 693149 AC098649,NR_030290 MIRN564|hsa-mir-564 miscrna 1603106 MIR566 microRNA 566 16381832,16505370 693151 AC104450,NR_030291 MIRN566|hsa-mir-566 miscrna 2312880 MIR567 microRNA 567 16381832,16505370 693152 AC024887,NR_030292 MIRN567|hsa-mir-567 miscrna 3539737 MIR568 microRNA 568 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,16505370 693153 AC093010,NR_030293 MIRN568|hsa-mir-568 miscrna 1603105 MIR569 microRNA 569 16381832,16505370 693154 AC026315,NR_030295 MIRN569|hsa-mir-569 miscrna 1603104 MIR570 microRNA 570 16381832,16505370,17604727 693155 AC069513,AC233280,NR_030296 MIRN570|hsa-mir-570 miscrna 1603103 MIR571 microRNA 571 16381832,16505370 693156 AC079140,NR_030297 MIRN571|hsa-mir-571 miscrna 1603102 MIR572 microRNA 572 16381832,16505370 693157 AC006230,NR_030298 MIRN572|hsa-mir-572 miscrna 1603101 MIR573 microRNA 573 16381832,16505370 693158 AC115110,NR_030299 MIRN573|hsa-mir-573 miscrna 3539736 MIR574 microRNA 574 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,16505370,17604727,17616659 693159 AC108044,NR_030300 MIRN574|hsa-mir-574 miscrna 1603100 MIR575 microRNA 575 16381832,16505370 693160 NR_030301,AC073413 MIRN575|hsa-mir-575 miscrna 1603099 MIR576 microRNA 576 16381832,16505370,17604727 693161 NR_030302,AC105314 MIRN576|hsa-mir-576 miscrna 1603098 MIR577 microRNA 577 16381832,16505370 693162 NR_030303,AC122938 MIRN577|hsa-mir-577 miscrna 1603097 MIR578 microRNA 578 16381832,16505370 693163 NR_030304,AC012504 MIRN578|hsa-mir-578 miscrna 1603096 MIR579 microRNA 579 16381832,16505370,17604727 693164 NR_030305,AC008949 MIRN579|hsa-mir-579 miscrna 1603095 MIR580 microRNA 580 16381832,16505370 693165 NR_030306,AC008942 MIRN580|hsa-mir-580 miscrna 1603094 MIR581 microRNA 581 16381832,16505370 693166 NR_030307,AC024571 MIRN581|hsa-mir-581 miscrna 1603093 MIR582 microRNA 582 16381832,16505370,17604727,17616659 693167 NR_030308,AC117527 MIRN582|hsa-mir-582 miscrna 1603092 MIR583 microRNA 583 16381832,16505370 693168 NR_030309,AC104123 MIRN583|hsa-mir-583 miscrna 1603091 MIR584 microRNA 584 16381832,16505370,17604727,17616659,19665576 693169 NR_030310,AC011364 MIRN584|hsa-mir-584 miscrna 1603090 MIR585 microRNA 585 16381832,16505370 693170 NR_030311,AC112165 MIRN585|hsa-mir-585 miscrna 1603089 MIR586 microRNA 586 16381832,16505370,19259136 693171 NR_030313,AL138880 MIRN586|hsa-mir-586 miscrna 1603088 MIR587 microRNA 587 16381832,16505370 693172 NR_030314,AL080314 MIRN587|hsa-mir-587 miscrna 1603087 MIR588 microRNA 588 16381832,16505370 693173 NR_030316,AL356534 MIRN588|hsa-mir-588 miscrna 1603086 MIR589 microRNA 589 16381832,16505370,17604727 693174 NR_030318,AC092171 MIRN589|hsa-mir-589 miscrna 1603085 MIR590 microRNA 590 16381832,16505370,17604727 693175 NR_030321,AC005057 MIRN590|hsa-mir-590 miscrna 1603084 MIR591 microRNA 591 16381832,16505370 693176 NR_030322,AC096775,CH236949 MIRN591|hsa-mir-591 miscrna 1603083 MIR592 microRNA 592 16381832,16505370 693177 NR_030323,CH236947,AC000364 MIRN592|hsa-mir-592 miscrna 1603082 MIR593 microRNA 593 16381832,16505370,17604727 693178 NR_030324,AC008039,CH236947 MIRN593|hsa-mir-593 miscrna 1603081 MIR595 microRNA 595 16381832,16505370 693180 CH236954,NR_030325,AC078942 MIRN595|hsa-mir-595 miscrna 1603080 MIR596 microRNA 596 16381832,16505370 693181 NR_030326,AC019257 MIRN596|hsa-mir-596 miscrna 1603079 MIR597 microRNA 597 16381832,16505370,17604727 693182 NR_030327,AC103834 MIRN597|hsa-mir-597 miscrna 1603078 MIR598 microRNA 598 16381832,16505370,17604727 693183 NR_030328,AC105108 MIRN598|hsa-mir-598 miscrna 1603077 MIR599 microRNA 599 16381832,16505370 693184 AC026827,NR_030329 MIRN599|hsa-mir-599 miscrna 1603076 MIR600 microRNA 600 16381832,16505370 693185 AL365338,NR_030331 MIRN600|hsa-mir-600 miscrna 1603075 MIR601 microRNA 601 16381832,16505370,19889580 693186 AL445489,NR_030332 MIRN601|hsa-mir-601 miscrna 1603074 MIR602 microRNA 602 16381832,16505370 693187 AL611925,NR_030333 MIRN602|hsa-mir-602 miscrna 1603073 MIR603 microRNA 603 16381832,16505370 693188 NR_030334,AC063961 MIRN603|hsa-mir-603 miscrna 1603072 MIR604 microRNA 604 19138993,16381832,16505370,19851984,20585341,20732906 693189 AL160060,NR_030335 MIRN604|hsa-mir-604 miscrna 1603071 MIR605 microRNA 605 16381832,16505370 693190 AC069079,NR_030336 MIRN605|hsa-mir-605 miscrna 1603070 MIR606 microRNA 606 16381832,16505370 693191 AL589863,NR_030337 MIRN606|hsa-mir-606 miscrna 1603069 MIR607 microRNA 607 16381832,16505370 693192 NR_030338,AL162502 MIRN607|hsa-mir-607 miscrna 1603068 MIR608 microRNA 608 19138993,16381832,16505370,19851984,20732906 693193 AL133215,NR_030339 MIRN608|hsa-mir-608 miscrna 1603067 MIR609 microRNA 609 16381832,16505370 693194 AL139341,NR_030340 MIRN609|hsa-mir-609 miscrna 1603066 MIR610 microRNA 610 MicroRNAs (miRNAs), such as MIRN610, are approximately 22-nucleotide noncoding RNAs that target mRNAs for translational repression or mRNA cleavage (Cummins et al., 2006 [PubMed 16505370]).[supplied by OMIM] 16505370,16381832 693195 AC090159,NR_030341 MIRN610|hsa-mir-610 miscrna 1603065 MIR611 microRNA 611 16381832,16505370 693196 AP002380,NR_030342 MIRN611|hsa-mir-611 miscrna 1603064 MIR612 microRNA 612 16381832,16505370 693197 AP000769,NR_030343 MIRN612|hsa-mir-612 miscrna 1603063 MIR613 microRNA 613 16381832,16505370 693198 AC007215,NR_030344 MIRN613|hsa-mir-613 miscrna 1603062 MIR614 microRNA 614 16381832,16505370 693199 AC007688,NR_030345 MIRN614|hsa-mir-614 miscrna 2312878 MIR615 microRNA 615 16381832,16505370,17604727 693200 AC012531,NR_030753 MIRN615|hsa-mir-615 miscrna 1602936 MIR616 microRNA 616 16381832,16505370,17604727 693201 AC022506,NR_030346 MIRN616|hsa-mir-616 miscrna 1602935 MIR617 microRNA 617 16381832,16505370 693202 AC025568,NR_030348 MIRN617|hsa-mir-617 miscrna 1602934 MIR618 microRNA 618 16381832,16505370,17604727 693203 AC068798,NR_030349 MIRN618|hsa-mir-618 miscrna 1602933 MIR619 microRNA 619 16381832,16505370 693204 AC087893,NR_030350 MIRN619|hsa-mir-619 miscrna 3516580 MIR620 microRNA 620 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,16505370 693205 AC130895,NR_030351 MIRN620|hsa-mir-620 miscrna 1602932 MIR621 microRNA 621 16381832,16505370 693206 AL161614,NR_030352 MIRN621|hsa-mir-621 miscrna 1602931 MIR622 microRNA 622 16381832,16505370 693207 AL354915,NR_030754 MIRN622|hsa-mir-622 miscrna 1602930 MIR623 microRNA 623 16381832,16505370 693208 AL136961,NR_030353 MIRN623|hsa-mir-623 miscrna 1602929 MIR624 microRNA 624 16381832,16505370,17604727 693209 AL049830,NR_030354 MIRN624|hsa-mir-624 miscrna 1602928 MIR625 microRNA 625 16381832,16505370,17604727 693210 AL355840,NR_030355 MIRN625|hsa-mir-625 miscrna 1602927 MIR626 microRNA 626 16381832,16505370 693211 AC073657,NR_030356 MIRN626|hsa-mir-626 miscrna 1602926 MIR627 microRNA 627 16381832,16505370,17604727 693212 AC036103,NR_030357 MIRN627|hsa-mir-627 miscrna 1602925 MIR628 microRNA 628 16381832,16505370,17604727 693213 AC018926,NR_030358 MIRN628|hsa-mir-628 miscrna 1602924 MIR629 microRNA 629 16381832,16505370,17604727 693214 AC026583,AC068327,NR_030714 MIRN629|hsa-mir-629 miscrna 1602923 MIR630 microRNA 630 16381832,16505370 693215 AC100827,NR_030359 MIRN630|hsa-mir-630 miscrna 1602922 MIR631 microRNA 631 16381832,16505370,19138993,20732906 693216 AC068338,NR_030360 MIRN631|hsa-mir-631 miscrna 1602921 MIR632 microRNA 632 16381832,16505370 693217 AC005899,NR_030362 MIRN632|hsa-mir-632 miscrna 1602920 MIR633 microRNA 633 16381832,16505370 693218 AC005972,NR_030363 MIRN633|hsa-mir-633 miscrna 1602919 MIR634 microRNA 634 16381832,16505370 693219 AC005918,NR_030364 MIRN634|hsa-mir-634 miscrna 1602918 MIR635 microRNA 635 16381832,16505370 693220 AC007780,NR_030365 MIRN635|hsa-mir-635 miscrna 1602917 MIR636 microRNA 636 16381832,16505370,17604727 693221 AC005837,NR_030366 MIRN636|hsa-mir-636 miscrna 1602916 MIR637 microRNA 637 16381832,16505370 693222 AC011488,NR_030367 MIRN637|hsa-mir-637 miscrna 2312877 MIR638 microRNA 638 16381832,16505370 693223 AC011475,NR_030368 MIRN638|hsa-mir-638 miscrna 1602915 MIR639 microRNA 639 16381832,16505370 693224 AC009004,NR_030369 MIRN639|hsa-mir-639 miscrna 1602914 MIR640 microRNA 640 16381832,16505370 693225 AC092067,NR_030370 MIRN640|hsa-mir-640 miscrna 1602913 MIR641 microRNA 641 16381832,16505370 693226 AC118344,NR_030371 MIRN641|hsa-mir-641 miscrna 1602912 MIR642 microRNA 642 16381832,16505370,17604727 693227 AC006132,NR_030372 MIR642|MIRN642|hsa-mir-642|hsa-mir-642a miscrna 4888821 MIR642B microRNA 642b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20459774 100500845 AC006132,NR_037512 miscrna 1602911 MIR643 microRNA 643 16381832,16505370 693228 AC010320,NR_030373 MIRN643|hsa-mir-643 miscrna 2312876 MIR644 microRNA 644 16381832,16505370 693229 AL109923,NR_030374 MIRN644|hsa-mir-644 miscrna 1602910 MIR645 microRNA 645 16381832,16505370 693230 AL133230,NR_030375 MIRN645|hsa-mir-645 miscrna 1602909 MIR646 microRNA 646 16381832,16505370,20306291 693231 AL035070,NR_030376 MIRN646|hsa-mir-646 miscrna 1602908 MIR647 microRNA 647 16381832,16505370 693232 AL118506,NR_030377 MIRN647|hsa-mir-647 miscrna 1602907 MIR648 microRNA 648 16381832,16505370 693233 AC016027,NR_030378 MIRN648|hsa-mir-648 miscrna 1602906 MIR649 microRNA 649 16381832,16505370 693234 AC002472,NR_030379 MIRN649|hsa-mir-649 miscrna 1602013 MIR650 microRNA 650 20381459,16381832,16505370 723778 D87021,NR_030755 MIRN650|hsa-mir-650 miscrna 1602012 MIR651 microRNA 651 16381832,16505370,17604727 723779 AC097626,NR_030380 MIRN651|hsa-mir-651 miscrna 1601677 MIR652 microRNA 652 16381832,16505370,17604727 724022 NR_030381,AL360224 MIRN652|hsa-mir-652 miscrna 1601676 MIR653 microRNA 653 16381832,16505370,17604727 724023 AC003078,NR_030388,CH236949 MIRN653|hsa-mir-653 miscrna 1601675 MIR654 microRNA 654 16381832,16505370,17604727 724024 AL132709,NR_030390 MIRN654|hsa-mir-654 miscrna 1601674 MIR655 microRNA 655 16381832,16505370,17604727 724025 AL132709,NR_030391 MIRN655|hsa-mir-655 miscrna 1601673 MIR656 microRNA 656 16381832,16505370 724026 AL132709,NR_030392 MIRN656|hsa-mir-656 miscrna 1601672 MIR657 microRNA 657 16381832,16505370,18602895 724027 AC115099,NR_030394 MIRN657|hsa-mir-657 miscrna 1601671 MIR658 microRNA 658 16381832,16505370 724028 Z97630,NR_030395 MIRN658|hsa-mir-658 miscrna 1601670 MIR659 microRNA 659 18723524,16381832,16505370 724029 Z97630,NR_030396 MIRN659|hsa-mir-659 miscrna 1601669 MIR660 microRNA 660 16381832,16505370,17604727 724030 AF222686,NR_030397 MIRN660|hsa-mir-660 miscrna 1601668 MIR661 microRNA 661 20543867,16381832,16505370,19584269 724031 AC109322,NR_030383 MIRN661|hsa-mir-661 miscrna 1601667 MIR662 microRNA 662 16381832,16505370 724032 AL031258,NR_030384 MIRN662|hsa-mir-662 miscrna 1601666 MIR663 microRNA 663 16381832,16505370,20514450 724033 AL121904,NR_030386 MIRN663|hsa-mir-663 miscrna 3497334 MIR663B microRNA 663b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,17989710 100313824 AC097532,NR_031608 MIRN663B miscrna 2312910 MIR664 microRNA 664 16381832,18285502 100302234 AL445435,NR_031705 MIRN664|hsa-mir-664 miscrna 2290240 MIR665 microRNA 665 16381832,16954537,17604727 100126315 AL117190,NR_030617 MIRN665|hsa-mir-665 miscrna 2290266 MIR668 microRNA 668 16381832,16954537 768214 AL132709,NR_030408 MIRN668|hsa-mir-668 miscrna 3516312 MIR670 microRNA 670 16381832,16954537,18215311 100313777 AC023085,NR_031577 hsa-mir-670 miscrna 2290267 MIR671 microRNA 671 16381832,16954537,17604727 768213 AC021097,NR_030407 MIRN671|hsa-mir-671 miscrna 2290195 MIR675 microRNA 675 20529846,16381832,17237358,18402656,19926638 100033819 AC051649,NR_030533 MIRN675|hsa-mir-675 miscrna 4888781 MIR676 microRNA 676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832,20224791,20498841 100500887 AL158141,NR_037494 hsa-mir-676 miscrna 1351622 MIR7-1 microRNA 7-1 19135553,18922890,18483236,18086561,12624257,20819078,20889907,16381832,17604727,17616659 407043 AL354733,AJ550391,NR_029605 MIRN7-1|hsa-mir-7-1|mir-7-1 miscrna 1344921 MIR7-2 microRNA 7-2 19135553,12624257,16381832,17604727,17616659 407044 AC013489,AJ550392,NR_029606 MIRN7-2|hsa-mir-7-2|mir-7-2 miscrna 1348311 MIR7-3 microRNA 7-3 16381832,17604727,17616659,19135553,12624257 407045 AC006537,AJ550393,NR_029607 MIRN7-3|hsa-mir-7-3|mir-7-3 miscrna 2290222 MIR708 microRNA 708 16381832,17604727,17616659 100126333 AP001838,NR_030598 MIRN708|hsa-mir-708 miscrna 3497324 MIR711 microRNA 711 16381832,18215311 100313843 AC121252,NR_031756 hsa-mir-711 miscrna 3516305 MIR718 microRNA 718 16381832,18215311 100313781 NR_031757,U52112 hsa-mir-718 miscrna 2312936 MIR720 microRNA 720 16381832,18230126 100302198 AC117411,NR_031712 MIRN720|hsa-mir-720 miscrna 2290242 MIR744 microRNA 744 16381832,16954537,17604727 100126313 AC005410,NR_030613 MIRN744|hsa-mir-744 miscrna 2290268 MIR758 microRNA 758 16381832,16954537,17604727 768212 AL132709,NR_030406 MIRN758|hsa-mir-758 miscrna 3516307 MIR759 microRNA 759 16381832,16954537,18215311,20677013 100313778 AL139085,NR_031582 hsa-mir-759 miscrna 2290208 MIR760 microRNA 760 16381832,16954537,17604727 100126348 NR_030621,AL049796 MIRN760|hsa-mir-760 miscrna 3497320 MIR761 microRNA 761 16381832,16954537,18215311 100313892 AL589663,NR_031580 hsa-mir-761 miscrna 3497330 MIR762 microRNA 762 16381832,16954537,18215311 100313837 AC135048,NR_031576 hsa-mir-762 miscrna 3497329 MIR764 microRNA 764 16381832,16954537,18215311 100313838 AC007025,NR_031581 hsa-mir-764 miscrna 2290260 MIR765 microRNA 765 16381832,16954537 768220 AL356104,NR_030527 MIRN765|hsa-mir-765 miscrna 2290262 MIR766 microRNA 766 16381832,16954537 768218 AC004913,NR_030413 MIRN766|hsa-mir-766 miscrna 2290265 MIR767 microRNA 767 16381832,16954537 768215 AC108171,NR_030409 MIRN767|hsa-mir-767 miscrna 2290263 MIR769 microRNA 769 16381832,16954537 768217 AC007785,NR_030412 MIRN769|hsa-mir-769 miscrna 2290258 MIR770 microRNA 770 16381832,16954537 768222 AL117190,NR_030528 MIRN770|hsa-mir-770 miscrna 2290261 MIR802 microRNA 802 20558762,16381832,16973894,18952845,19897480 768219 AF015720,NR_030414 MIRN802|hsa-mir-802 miscrna 2290239 MIR873 microRNA 873 16381832,16954537,17604727 100126316 AL158072,NR_030618 MIRN873|hsa-mir-873 miscrna 2290213 MIR874 microRNA 874 16381832,17604727,17616659,19240791 100126343 AC106775,NR_030588 MIRN874|hsa-mir-874 miscrna 2290245 MIR875 microRNA 875 16381832,17604727 100126309 AC026827,NR_030596 MIRN875|hsa-mir-875 miscrna 2290244 MIR876 microRNA 876 16381832,17604727 100126310 AL158072,NR_030597 MIRN876|hsa-mir-876 miscrna 2290241 MIR877 microRNA 877 MIRN877 belongs to a subfamily of microRNAs (miRNAs), called mirtrons, that arise from short hairpin introns. Mirtrons differ from canonical miRNAs in that they use splicing rather than cleavage by Drosha (RNASEN; MIM 608828) to generate pre-miRNA hairpins. Upon release by the splicing machinery, mirtrons access the canonical miRNA pathway during nuclear export and are cleaved by Dicer (MIM 606241) for incorporation into silencing complexes (Berezikov et al., 2007 [PubMed 17964270]).[supplied by OMIM] 17964270,16381832,16954537,17604727 100126314 AL662800,AL662825,BX000357,BX119957,BX927220,CR753328,CR759778,NR_030615 MIRN877|hsa-mir-877|miRNA877 miscrna 2290221 MIR885 microRNA 885 16381832,16954537,17604727 100126334 AC090841,NR_030614 MIRN885|hsa-mir-885 miscrna 2290254 MIR886 microRNA 886 100126299 AC005219,NR_030583 MIRN886|hsa-mir-886 miscrna 2290209 MIR887 microRNA 887 16381832,16954537,17604727 100126347 AC091872,NR_030616 MIRN887|hsa-mir-887 miscrna 2290248 MIR888 microRNA 888 16381832,17604727 100126306 AL445258,NR_030592 MIRN888|hsa-mir-888 miscrna 2290211 MIR889 microRNA 889 16381832,17604727 100126345 NR_030595,AL132709 MIRN889|hsa-mir-889 miscrna 2290250 MIR890 microRNA 890 16381832,17604727 100126303 AL445258,NR_030589 MIRN890|hsa-mir-890 miscrna 2290215 MIR891A microRNA 891a 16381832,17604727 100126341 NR_030581,AL358174 MIRN891A miscrna 2290249 MIR891B microRNA 891b 16381832,17604727 100126304 AL445258,NR_030590 MIRN891B miscrna 2290214 MIR892A microRNA 892a 16381832,17604727 100126342 AL445258,NR_030584 MIRN892A miscrna 2290247 MIR892B microRNA 892b 16381832,17604727 100126307 AL445258,NR_030593 MIRN892B miscrna 1350966 MIR9-1 microRNA 9-1 MicroRNAs (miRNAs), such as miRNA9, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]). In humans, 3 genes encode miRNA9: MIRN9-1, MIRN9-2 (MIM 611187), and MIRN9-3 (MIM 611188).[supplied by OMIM] 19289835,12007417,16381832,17604727,18686603,19702828,19954362,20102618,20124485,20167074,20173740,19531230,20362537,20676129,20806079 407046 NR_029691,AL139130 MIRN9-1|hsa-mir-9-1|miRNA9-1 miscrna 1347128 MIR9-2 microRNA 9-2 MicroRNAs (miRNAs), such as miRNA9, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]). In humans, 3 genes encode miRNA9: MIRN9-1 (MIM 611186), MIRN9-2, and MIRN9-3 (MIM 611188).[supplied by OMIM] 16381832,17604727,12007417,20022054,20167074 407047 AC026701,NR_030741 MIRN9-2|hsa-mir-9-2|miRNA9-2 miscrna 1345298 MIR9-3 microRNA 9-3 MicroRNAs (miRNAs), such as miRNA9, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]). In humans, 3 genes encode miRNA9: MIRN9-1 (MIM 611186), MIRN9-2 (MIM 611187), and MIRN9-3.[supplied by OMIM] 12007417,20676129,16381832,17604727,20167074 407051 AC133637,NR_029692 MIRN9-3|hsa-mir-9-3|miRNA9-3 miscrna 2290235 MIR920 microRNA 920 19048628,19931512,16381832,17573847 100126320 AC087322,NR_030625 MIRN920|hsa-mir-920 miscrna 2290207 MIR921 microRNA 921 16381832,17573847 100126349 AL596087,NR_030626 MIRN921|hsa-mir-921 miscrna 2290234 MIR922 microRNA 922 16381832,17573847 100126321 AC024560,NR_030627 MIRN922|hsa-mir-922 miscrna 2290233 MIR923 microRNA 923 100126322 AC022916 MIRN923|hsa-mir-923 miscrna 2290232 MIR924 microRNA 924 16381832,17573847 100126323 AC099845,NR_030628 MIRN924|hsa-mir-924 miscrna 1346101 MIR92A1 microRNA 92a-1 11914277,12554860,12919684,15183728,15325244,15978578,16381832,17604727,17616659,18632605,19950226,20347265 407048 AF480530,AF480563,AL162375,NR_029508 MIR92-1|MIRN92-1|MIRN92A-1|MIRN92A1|miRNA92-1 miscrna 1347660 MIR92A2 microRNA 92a-2 11914277,12554860,12919684,15183728,15325244,15978578,16381832,17604727,17616659,20347265,20548249 407049 AF480564,AC002407,NR_029509 MIRN92-2|MIRN92A-2|MIRN92A2 miscrna 2312875 MIR92B microRNA 92b 16381832,16505370,17604727,17616659,18624795 693235 AL713999,NR_030281 MIRN92B|hsa-mir-92b miscrna 1344413 MIR93 microRNA 93 MicroRNAs (miRNAs), such as MIR93, are short noncoding RNAs that regulate gene expression by binding complementary sequences in the 3-prime UTRs of target mRNAs and either inhibiting their translation or inducing their degradation (Petrocca et al., 2008 [PubMed 18328430]).[supplied by OMIM] 12554860,15325244,15978578,16381832,17604727,17616659,19486339,19671678,20167074,20519629,18974142,18328430,11914277,20889907 407050 AF480565,AF480566,NR_029510,AC073842,AF480531,CH236956 MIRN9|MIRN93|hsa-mir-93|miR-93 miscrna 2290206 MIR933 microRNA 933 16381832,17616659 100126350 AC096649,NR_030630 MIRN933|hsa-mir-933 miscrna 2290231 MIR934 microRNA 934 16381832,17616659 100126324 Z97632,NR_030631 MIRN934|hsa-mir-934 miscrna 2290230 MIR935 microRNA 935 16381832,17616659 100126325 AC008440,NR_030632 MIRN935|hsa-mir-935 miscrna 2290229 MIR936 microRNA 936 16381832,17616659 100126326 AL138761,NR_030760 MIRN936|hsa-mir-936 miscrna 2290218 MIR937 microRNA 937 16381832,17616659 100126338 AC105219,NR_030633 MIRN937|hsa-mir-937 miscrna 2290228 MIR938 microRNA 938 16381832,17616659 100126327 AL160060,NR_030634 MIRN938|hsa-mir-938 miscrna 2290205 MIR939 microRNA 939 16381832,17616659 100126351 AF205589,NR_030635,AC233992 MIRN939|hsa-mir-939 miscrna 2290227 MIR940 microRNA 940 16381832,17616659 100126328 AC009065,NR_030636 MIRN940|hsa-mir-940 miscrna 2290226 MIR941-1 microRNA 941-1 16381832,17616659,19784364 100126329 AL118506,NR_030637 MIRN941-1 miscrna 2290217 MIR941-2 microRNA 941-2 16381832,17616659,19784364 100126339 AL118506,NR_030638 MIRN941-2 miscrna 2290204 MIR941-3 microRNA 941-3 16381832,17616659,19784364 100126352 AL118506,NR_030639 MIRN941-3 miscrna 2290225 MIR941-4 microRNA 941-4 16381832,17616659,19784364 100126330 AL118506 MIRN941-4 miscrna 2290224 MIR942 microRNA 942 16381832,17616659 100126331 AL391476,NR_030640 MIRN942|hsa-mir-942 miscrna 2290223 MIR943 microRNA 943 16381832,17616659 100126332 AL132868,NR_030641 MIRN943|hsa-mir-943 miscrna 2290216 MIR944 microRNA 944 16381832,17616659 100126340 AC063939,NR_030642 MIRN944|hsa-mir-944 miscrna 1346798 MIR95 microRNA 95 16381832,17604727,11914277 407052 AF480567,AC097381,AF480533,NR_029511 MIRN95|hsa-mir-95|miR-95 miscrna 1349367 MIR96 microRNA 96 MicroRNAs (miRNAs), such as MIRN96, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIRN183 (MIM 611608), MIRN96, and MIRN182 (MIM 611607) are transcribed in tandem as a single polycistronic primary transcript (Xu et al., 2007 [PubMed 17597072]).[supplied by OMIM] 19363479,17597072,14757864,16381832,17604727,17616659,11914277,20610624,19574223,19943878 407053 CH236950,NG_023385,AC084864,AF480534,AF480568,NR_029512 DFNA50|MIRN96|hsa-mir-96|miR-96|miRNA96 miscrna 1344194 MIR98 microRNA 98 19671678,19592657,11914277,16381832,17604727,17616659,20486857 407054 NR_029513,AL592046,AF480536,AF480570 MIRN98|hsa-mir-98|miR-98 miscrna 1349808 MIR99A microRNA 99a 11914277,16381832,17604727,17616659 407055 AF480537,AF480571,AP000962,NR_029514 MIRN99A miscrna 1351824 MIR99B microRNA 99b 12007417,12919684,15634332,15978578,16381832,17604727,17616659,20889907 407056 NR_029843,AC018755 MIRN99B miscrna 1347279 MIRLET7A1 microRNA let-7a-1 MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7A1, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]).[supplied by OMIM] 19304520,19508234,19787239,19878981,19966857,20167074,20486857,12554860,14573789,15183728,15325244,16381832,17604727,17616659,17989717,20158877,20639884,19153603,19136928,19126550,18403645,17957144,17660297,17437991,17220301,16651716,11679670,20651244 406881 NR_029476,AL158152,AJ421724 LET7A1|MIRNLET7A1|let-7a-1 miscrna 1344903 MIRLET7A2 microRNA let-7a-2 MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7A2, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 12554860,14573789,15183728,15325244,16381832,17604727,17616659,17989717,19015728,20158877,17437991,11679670,20889907 406882 NR_029477,AP001359,AJ421725 LET7A2|MIRNLET7A2|let-7a-2 miscrna 1353923 MIRLET7A3 microRNA let-7a-3 MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7A3, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 12554860,14573789,15183728,15325244,16381832,17604727,17616659,17989717,20158877,17974952,17437991,11679670,20808284 406883 AL049853,AJ421726,NR_029478 LET7A3|MIRNLET7A3|let-7a-3 miscrna 1348805 MIRLET7B microRNA let-7b MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. Among the human LET7 miRNAs, LET7B and LET7E (MIM 611250) are most divergent, with differences in 4 nucleotides. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670,20130213,14573789,15325244,16381832,17604727,17616659 406884 AL049853,AJ421727,NR_029479 LET7B|MIRNLET7B|hsa-let-7b|let-7b miscrna 1345563 MIRLET7C microRNA let-7c MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7C, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 19289845,17437991,11679670,14573789,16381832,17604727,17616659,20158877 406885 AP000962,AJ421728,NR_029480 LET7C|MIRNLET7C|hsa-let-7c|let-7c miscrna 1343706 MIRLET7D microRNA let-7d MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7D, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670,15325244,16381832,17604727,17616659,20158877,20889907 406886 AL158152,AJ421729,NR_029481 LET7D|MIRNLET7D|hsa-let-7d|let-7d miscrna 1352382 MIRLET7E microRNA let-7e MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. Among the human LET7 miRNAs, LET7B (MIM 611249) and LET7E are most divergent, with differences in 4 nucleotides. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670,15325244,16381832,17604727,17616659,20158877 406887 AC018755,AJ421730,NR_029482 MIRNLET7E|hsa-let-7e|let-7e miscrna 1350549 MIRLET7F1 microRNA let-7f-1 MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7F1, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670,14573789,15325244,16381832,17604727,17616659,20158877 406888 AL158152,AJ421731,NR_029483 LET7F1|MIRNLET7F1|let-7f-1 miscrna 1347408 MIRLET7F2 microRNA let-7f-2 MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7F2, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670,14573789,15325244,16381832,17604727,17616659,20158877 406889 AL592046,AJ421732,NR_029484 LET7F2|MIRNLET7F2|let-7f-2 miscrna 1344572 MIRLET7G microRNA let-7g MicroRNAs (miRNAs) are short noncoding RNAs that play important roles in developmental processes. miRNAs regulate gene expression through incomplete basepairing to a complementary sequence in the 3-prime UTR of a target mRNA, resulting in translational repression and, to a lesser extent, accelerated mRNA degradation. The let7 miRNA was originally identified in C. elegans as a regulator of developmental timing and cellular proliferation. There are several human homologs of C. elegans let7, including MIRNLET7G. For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 19153603,18550544,12007417,16381832,17604727,17616659,20158877 406890 AC092045,NR_029660 LET7G|MIRNLET7G|hsa-let-7g miscrna 1348497 MIRLET7I microRNA let-7i MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7I, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670,12007417,16381832,17604727,17616659,17989717,20158877,19903813 406891 AC048341,NR_029661 LET7I|MIRNLET7I|hsa-let-7i miscrna 1349588 MIRN152 microRNA 152 12007417,16381832,17604727,17616659,20158877,20578129,20574809 406943,406943 AC004477,NR_029687 MIRN152 miscrna 1352002 MIRN321 microRNA 321 407038 1348110 MIRN328 microRNA 328 14691248,15634332,16381832,17604727,20211135,21098446 442901,442901 AC040160,NR_029887 MIRN328|hsa-mir-328 miscrna 1603112 MIRN560 microRNA 560 693145 AC097532 hsa-mir-560 miscrna 1603107 MIRN565 microRNA 565 693150 AC098476 hsa-mir-565 miscrna 2290259 MIRN768 microRNA 768 768221 AC010653 hsa-mir-768 miscrna 2290257 MIRN801 microRNA 801 768223 AL840644 hsa-mir-801 miscrna 1346036 MIS12 MIS12, MIND kinetochore complex component, homolog (S. pombe) 1580863 15502821,12515822,16585270,16381901,15489336,15489334,14702039,12477932,11230166,11076863,15371340,11256614,20404110 79003 NM_024039,AC004148,AC055839,CH471108,AK056072,AK289939,AL136906,BC000229,CR533460 NP_076944,EAW90328,BAF82628,CAB66840,AAH00229,CAG38491,Q9H081,CAL37850,CAL38435 Hs.267194 2510025F08Rik|KNTC2AP|MGC2488|MTW1|hMis12 MIS12 homolog|MIS12, MIND kinetochore complex component, homolog (yeast)|homolog of yeast Mis12|mis12 homolog (yeast)|protein MIS12 homolog protein-coding 1602187 MITD1 MIT, microtubule interacting and transport, domain containing 1 17207965,16730941,15815621,15489334,12477932 129531 BC018453,NM_138798,AC092587,CH471127,CQ859758,AL161992,CR608207 ADQ31824,NP_620153,AAX88928,EAX01884,EAX01885,EAX01886,EAX01887,CAH25929,CAH10777,AAH18453,Q8WV92 Hs.14222 MIT domain-containing protein 1|OTTHUMP00000203297|OTTHUMP00000203468 protein-coding 735982 MITF microphthalmia-associated transcription factor This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1599944,1599943,1580863 20482673,20513998,16029420,20201954,20644734,20439467,15729346,16344560,19464596,19496784,19659611,19784067,19805117,19895547,20083088,20163701,20379614,20550935,9647758,10578055,19422606,19320733,19188590,18971960,18829533,18636124,18628967,18595666,18478240,18457359,18451137,18424413,18316599,18284417,18281284,18039926,17975146,17627390,17516926,17464203,17250547,17182868,17159916,16766266,11331755,11230166,11176068,10851256,10760582,10694430,10673502,10587587,9918847,9856573,9806910,9700169,9660747,9500554,9440696,9158138,8995290,8659547,8645245,8589691,8069297,7969144,7951321,7874167,666627,15716956,15607961,16586042,11350962,16524430,16510564,16489066,16455654,16420247,16411896,16140982,16129781,16001072,15983061,15884099,15715979,15623583,15507434,15489334,15205688,14744763,14737107,13985019,12944398,12819038,12753399,12666593,12663655,12477932,12235125,12204775,12086670,12048204,12032083,11930005,11929831,11818452,11792706,11764295,11751862,11709556,20478267,20485200,20514666,20573688,20952536,20099279,20530484,20701798,20801516,21070662 1599944,1599943 4286 AB006909,NM_198159,NM_006722,NM_198177,NM_198178,NM_000248,NM_198158,NG_011631,AB009608,AB032357,AB032358,AB032359,AC099326,AC104445,AC104449,AC124915,AF034755,CH471055,D82874,DA058963,DC388606,GU355676,NM_001184967,NM_001184968,AW242257,AB006988,AK291318,AK296129,AK297858,AL110195,AL117653,BC011461,BC012503,BC026961,BC065243,BM800230,BQ219650,BU167035,Z29678 NP_937802,NP_006713,NP_937820,NP_937821,NP_000239,NP_937801,BAA95209,BAA95206,BAA95207,BAA95208,AAC39639,EAW65479,EAW65480,EAW65481,EAW65482,EAW65483,EAW65484,ADB90411,NP_001171896,NP_001171897,BAA32288,BAB83926,BAF84007,BAG58874,BAG60189,CAB53672,AAH26961,AAH65243,CAA82775,O75030,Q8WYR3 Hs.166017,Hs.618266 MI|WS2A|bHLHe32 OTTHUMP00000195138|OTTHUMP00000213867|class E basic helix-loop-helix protein 32|microphthalmia-associated transcription factor protein-coding 1320666 MIXL1 Mix1 homeobox-like 1 (Xenopus laevis) Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM] 1580863 18032708,17303500,15982639,12477932,12095687,12070013 83881 NM_031944,AF218357,AL592045,CH471098,AF211891,BC111974,BC113441,BC143784 NP_114150,AAK01479,CAH71924,EAW69778,EAW69779,AAG35776,AAI11975,AAI13442,AAI43785,Q9H2W2 Hs.282079 MGC138179|MILD1|MIX|MIXL MIX1 homeobox-like protein 1|Mix-like homeobox protein 1|hMix|homeobox protein MIXL1|homeodomain protein MIX|mix.1 homeobox-like protein protein-coding 1313525 MKI67 antigen identified by monoclonal antibody Ki-67 This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq] 1580863,2317703,2317706,2317702,2317705,2317704,2317709,2317708 19446313,15591788,15545971,15452376,15302935,15217948,15214825,15164054,15104289,15068320,15048881,14707453,14674120,14659764,14627346,14582704,12716386,12649825,12647790,12607601,12575534,12532420,12485163,12479099,12434121,12432453,12174912,12125971,12051866,11925591,11857304,11839580,11783017,11759064,11744991,11570981,10878014,10548634,10502411,9087533,8889548,8603106,2571566,2012175,1769665,16260903,11793364,17972530,17923265,17903293,17885492,17848143,17805549,17713095,17695500,17693651,17647192,17594714,17593084,17531085,17525640,17525638,17525627,17490723,17377809,17310847,17296585,17285761,17234468,17227124,17188136,17143016,17081983,17065089,16984615,16964243,16948516,16882345,16804724,16723309,16681683,16629645,16623776,16609045,16574316,16565220,16533178,16479062,16351648,16295759,16255765,16244663,16206250,16171567,16097446,16045773,15964376,15953875,15931389,15871722,15809747,15679862,15638382,15638377,15638357,20871219,20105109,20557372,20686376,17975119,19207951,19195690,19152245,19138978,19130399,19093259,19077408,19032382,19023099,18982746,18949744,18822690,18798062,18778369,18766962,18766188,18762814,18727426,18705408,18690204,18674924,18665038,18572327,18561741,18546942,18516322,18496701,18439942,18374497,18331287,18312749,18301453,18256893,18234277,18165175,18095132,18077791,18038314,18019405,18018472,18005189,11342549,8227122,18029348,19602458,19584075,19559929,19519606,19470936,19436038,19351365,19342238,19291919,19220627,19774459,20398247,20487522,20369584,10570175,16385451,16573167,17474147,17545048,17577209,18592370,19019173,19050681,19080002,19102938,19144445,19160064,19162366,19173807,19350669,19351506,19462897,19585492,19593135,19687314,19690760,19690767,19710015,19723039,19773751,19777788,19788614,19818763,19901884,19935641,19946260,19952937,19956635,20001343,20010526,20030864,20030866,20038236,20082479,20095356,20099418,20103652,20103726,20181625,20198771,21058037,20800066,20840814,20338617,20381119,20414055,20628624,19340613,19394292,19832838,20800603 2317703,2317706,2317702,2317705,2317704,2317709,2317708 4288 NM_002417,NM_001145966,AL355529,AL390236,CH471066,X74107,X94762,AJ567755,AJ567756,AJ567757,AK299254,BM699306,BU632619,BU855841,CR607300,X65550,X65551,HI179092 NP_002408,NP_001139438,CAI16902,CAI16903,CAH73169,CAH73170,EAW49177,EAW49178,EAW49179,CAA64388,CAD99005,CAD99006,CAD99007,BAG61285,CAA46519,CAA46520,P46013,Q70L73,Q70L74,CBX53854 Hs.80976,Hs.689823 KIA antigen KI-67|proliferation-related Ki-67 antigen protein-coding 1345364 MKI67IP MKI67 (FHA domain) interacting nucleolar phosphoprotein This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq] 1302356 11342549,16344560,16244663,15815621,15489334,14659764,12477932,17891046 1302356 84365 NM_032390,AC018737,CH471103,AB044971,AK291903,AK299814,AK311033,BC012457,BC022990,BC024238,BE671589,CR594765,CR598208,CR605493,CR608149,CR618977,CR620927,DA570244 NP_115766,AAY14830,EAW95259,EAW95260,EAW95261,BAB41210,BAF84592,BAG61686,AAH12457,AAH22990,AAH24238,Q9BYG3,ABM82604,ABM85789 Hs.367842 NIFK|Nopp34 MKI67 FHA domain-interacting nucleolar phosphoprotein|OTTHUMP00000203751|hNIFK|nucleolar phosphoprotein Nopp34|nucleolar protein interacting with the FHA domain of pKi-67 protein-coding 1318801 MKKS McKusick-Kaufman syndrome This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1581208,1601414,1582516,1580863 10802661,11256614,19077438,18813213,18094050,17353931,17003356,16381901,15731008,15489336,15483080,12837689,12477932,12107442,11780052,11567139,11230166,11179009,11076863,10973251,10973238,20472660,9467007,16169070,19247371,19876004,20193073,20801516,19913121,20628086 1581208,1601414,1582516 8195 BM019257,CR597193,NM_018848,NG_009109,AL034430,CH471133,AF075024,AF221992,AF221993,AF275813,AK025741,AK291925,AK296439,AL157427,BC009180,BC013287,BC028973,NM_170784 AAH28973,Q8IZ22,Q9H6M6,Q9HB66,Q9NPJ1,CAL37896,NP_740754,NP_061336,CAC16847,EAX10343,EAX10344,EAX10345,AAF73872,AAF73873,AAG23823,BAB15230,BAF84614,BAH12355,CAB75652 Hs.472119 BBS6|HMCS|KMS|MKS McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin|bardet-Biedl syndrome 6 protein protein-coding 1312564 MKL1 megakaryoblastic leukemia (translocation) 1 The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. [provided by RefSeq] 1599948,1580863 14565952,19513752,19198601,19136660,19008859,18694962,18688043,18667423,18477564,18337547,18056415,17947237,17599918,17525332,17287340,17081983,16964243,16710414,16098147,15849773,15489334,15461802,15329155,15302935,14970199,14702039,12944485,12477932,12397177,12168954,12019265,11439182,11431691,11344311,10718198,10591208,18710951,19350017,19570815,19724058,18029348 1599948 57591 AL022238,AL031594,CH471095,AB037859,AF368061,AF448806,AJ297257,AJ297258,AL713710,BC021586,BC064620,BC114364,BC115039,BC139730,CR456522,NM_020831 NP_065882,CAI18985,CAQ08938,EAW60382,EAW60383,EAW60384,BAA92676,AAK54721,CAC38826,CAC38827,CAD28507,AAI14365,AAI15040,CAG30408,Q29R68,Q969V6,AAI41654,AAI41656,CAK54553,CAK54852 Hs.654688 BSAC|MAL|MRTF-A MKL/myocardin-like protein 1|OTTHUMP00000199246|OTTHUMP00000199247|RBM15/MKL1 fusion|RNA-binding motif protein 15/megakaryoblastic leukemia-1 fusion protein|basic, SAP and coiled-coil domain|megakaryoblastic leukemia 1 protein|megakaryocytic acute leukemia protein|myocardin-related transcription factor A protein-coding 1345947 MKL2 MKL/myocardin-like 2 737633,1580863 14565952,19198601,18056415,17947237,17081983,15489334,14702039,12944485,12477932,12397177,12168954,10574462,18029348,20442744,20607705,21102462 737633 57496 NM_014048,AC012626,AC040173,AC130650,CH471112,AB033069,AF078853,AK056385,AK057216,AK093577,AK126948,AK127530,AK294765,AY374297,BC006977,BC016293,BC020644,BC030510,BC034934,BC038834,BC047761,BC050541,BC067270,BC073950,BC107868,BC127941,BC136260,BC171750,BX641041,CR749797 NP_054767,EAW85112,EAW85113,EAW85114,EAW85115,BAA86557,AAD44485,BAC04200,BAG54517,BAG57899,AAQ82435,AAH34934,AAH47761,AAI27942,AAI36261,AAI71750,CAH18657,Q05BP1,Q9ULH7,Q9Y6G6 Hs.49143 DKFZp686J1745|FLJ31823|FLJ45623|MRTF-B|NPD001 MKL/myocardin-like protein 2|megakaryoblastic leukemia 2|myocardin-related transcription factor B protein-coding 734391 MKLN1 muskelin 1, intracellular mediator containing kelch motifs Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM] 737629,1580863 17353931,10640805,18710924,17467196,16344560,15489334,15084145,14702039,12690205,12559565,12477932,11006128,9724633,20038947,20379614 737629 4289 NM_001145354,NM_013255,AC008264,AC009362,AC009783,AC013434,AC018642,CH236950,CH471070,AA284481,AA451916,AF047489,AF086386,AI928463,AK002024,AK025088,AK074367,AK294384,AK310452,AL162071,AL705061,AL833458,AW505004,BC002834,BC013938,BC067825,BE778355,BU945366,BX537433,BX538253,CB046426,CR615360,DA172589 NP_001138826,NP_037387,EAL24081,EAW83781,EAW83782,EAW83783,AAF06698,BAA92042,BAG57641,CAB82407,AAH02834,AAH67825,CAD97675,Q7Z3T0,Q9UL63 Hs.44693 FLJ11162|TWA2 OTTHUMP00000207137|muskelin protein-coding 1605115 MKNK1 MAP kinase interacting serine/threonine kinase 1 2315047 19650764,20379614,9155018,9878069,17724079,17590453,16763222,16710414,16479008,16344560,16162500,15581611,15563472,15516979,15489334,15350534,15234964,15220445,14702039,12477932,11463832,11154262,10978317,10859165,10022874,9468497,9155017,8636128,11157753,14499622,20936779,20805296 2315047 8569 NM_001135553,NM_003684,NR_024176,NM_198973,AL136373,CH471059,AB000409,AB451300,AB451432,AK096423,AK290456,AK298839,AK304005,AK310566,AY355461,BC002755,BG722049,NR_024174,BX538193,BX648559,CR603808,CR605253,DA435648,DA502363,DC366212,DC376088 NP_001129025,NP_003675,NP_945324,CAI14762,CAI14763,CAI14764,CAI14765,EAX06900,EAX06901,EAX06902,EAX06903,EAX06904,EAX06905,BAA19885,BAG70114,BAG70246,BAG53286,BAF83145,BAG60967,BAG64921,AAQ84219,AAH02755,CAD98062,Q7Z319,Q9BUB5,ABM83918,ABM87239,ACE87224,ACE86543 Hs.371594 MNK1 MAP kinase interacting kinase 1|MAP kinase signal-integrating kinase 1|MAP kinase-interacting serine/threonine kinase 1|MAP kinase-interacting serine/threonine-protein kinase 1|OTTHUMP00000009675|OTTHUMP00000009676 protein-coding 1313930 MKNK2 MAP kinase interacting serine/threonine kinase 2 2315047,1580863 20936779,11463832,8415712,16856496,16344560,16216586,15489334,15057824,14702039,12897141,12477932,11154262,11013076,9155017,8889548,16103188 2315047 2872 HI202980,HI202982,NM_017572,NM_199054,AC007136,CH471139,AB209074,AF125532,AF237775,AF237776,AK001730,AK023442,AK024347,AK092536,AK097012,AK293742,AK303393,AL137565,AL137615,AL513974,BC018345,BC021235,BC073140,BM977403,BU192307,DA950743,FB775508,FB775510 CBX54006,CBX54007,Q9NT28,Q9NV89,ACE87568,ACE86881,NP_060042,NP_951009,AAD21217,EAW69422,EAW69423,BAD92311,AAF17226,AAG26336,AAG26337,BAA91866,BAG52569,BAG57165,BAG64449,CAB70816,AAH18345,AAH73140,Q59GN5,Q9HBH9,CAV30711,CAV30712 Hs.515032 GPRK7|MNK2 G protein-coupled receptor kinase 7|MAP kinase signal-integrating kinase 2|MAP kinase-interacting serine/threonine-protein kinase 2|Putative map kinase interacting kinase protein-coding 1347564 MKRN1 makorin ring finger protein 1 The Makorin ring finger protein-1 gene (MKRN1) is a highly transcribed, intron-containing source for a family of intronless mammalian genes encoding a novel class of zinc finger proteins. Phylogenetic analyses indicate that the MKRN1 gene is the ancestral founder of this gene family (Gray et al., 2000 [PubMed 10843807]).[supplied by OMIM] 1580863 15231747,18029348,16785614,15489334,12477932,11230166,10843807,19536131,19604354,19846531,20379614,15805468 23608 NM_001145125,AC069335,AF192789,AF192793,CH236950,CH471070,AB209298,AF117233,AF192784,AI828363,AK024987,AK027137,AK127030,NM_013446,AK297361,AK315552,AL136812,AM236048,BC012398,BC025955,BC037400,BC051821,BC064838,BC127216,CA438497,CR601180,CR605455,CR616519,CR625460 NP_038474,NP_001138597,AAF18979,EAL24026,EAW83949,EAW83950,EAW83951,EAW83952,EAW83953,BAD92535,AAF17214,AAF17487,BAG54426,BAG59808,BAG37929,CAB66746,CAJ84705,AAH25955,AAH37400,AAH64838,AAI27217,Q9UHC7,ABM83330,ABW03317 Hs.490347 FLJ21334|RNF61 E3 ubiquitin-protein ligase makorin-1|OTTHUMP00000212121|OTTHUMP00000212124|RING finger protein 61 protein-coding 1321625 MKRN2 makorin ring finger protein 2 Members of the makorin family, including MKRN2, have a characteristic zinc finger composition that suggests that they are ribonucleoproteins (Gray et al., 2001 [PubMed 11597136]).[supplied by OMIM] 1580863 11597136,15489334,14702039,12477932,11042152,21048031,19549727 23609 NM_014160,AC018500,AF277170,CH471055,AF302084,AK091318,AK298463,AL834512,BC001799,BC015715,CR610136,CR626820 NP_054879,AAG27595,EAW64132,EAW64133,AAG30426,BAG52337,BAG60676,CAD39168,AAH01799,AAH15715,Q9H000,ABM82021,ABM85203 Hs.591666 HSPC070|RNF62 OTTHUMP00000207821|OTTHUMP00000207822|RING finger protein 62|probable E3 ubiquitin-protein ligase makorin-2 protein-coding 1322529 MKRN3 makorin ring finger protein 3 The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq] 1580863 10196367,16344560,15489334,12477932,19844787,19549727 7681 NM_005664,AC126407,CH471151,U19107,AI939624,AW445166,BC044639,BC070293,DA495139,NG_012875 NP_005655,EAW57608,AAC13989,AAH44639,AAH70293,Q13064,Q6NSB6,ABZ92516 Hs.72964,Hs.679587 D15S9|MGC88288|RNF63|ZFP127|ZNF127 RING finger protein 63|probable E3 ubiquitin-protein ligase makorin-3|zinc finger protein 127 protein-coding 1351036 MKRNP1 makorin ring finger protein pseudogene 1 7683 NG_000873,AL359740,U41316 MKRN5P|MKRNP1|ZNF-Xq|ZNF127L2 pseudo 1352116 MKRNP2 makorin ring finger protein pseudogene 2 23610 NG_002786,AL022721 MKRN6P|MKRNP2 pseudo 1344748 MKRNP3 makorin ring finger protein pseudogene 3 7686 NG_001029,AL031686 MKRN7P|MKRNP3|ZNF127L5|dJ981L23.2 pseudo 1347996 MKRNP4 makorin ring finger protein pseudogene 4 10843807 391033 AL512353,NG_009613 MKRN8P|MKRNP4|ZNF127L4 pseudo 1350230 MKRNP5 makorin ring finger protein pseudogene 5 1580863 7682 NG_004713,AC092474,U41315 AAA99070,Q13434 MKRN4|MKRNP5|RNF64|ZNF-Xp|ZNF127-Xp|ZNF127L1 pseudo 1349030 MKRNP6 makorin ring finger protein pseudogene 6 12477932 400058 AC079598,BC067894,NR_033410 Q6NVV0 Hs.572212 MKRN5|MKRN9|MKRNP6|RNF65|ZNF127L3 pseudo 1352123 MKS1 Meckel syndrome, type 1 19208769,18327255,17935508,17437276,17397051,17377820,17185389,16415886,15489334,14702039,12477932,7550354,16169070,19515853,21068128 54903 NM_017777,AC005962,CH471109,AI208274,AK000352,AK301020,AK310815,BC010061,CR457229,CR606585,DQ185029,BE327525,NG_013032,NM_001165927 NP_060247,EAW94476,EAW94477,EAW94478,BAA91105,BAG62637,AAH10061,CAG33510,AAZ94714,Q9NXB0,NP_001159399 Hs.408843 BBS13|FLJ20345|MES|MKS|POC12 FABB proteome-like protein|Meckel syndrome type 1 protein|OTTHUMP00000165109|OTTHUMP00000165110|POC12 centriolar protein homolog protein-coding 1343445 MKS2 Meckel syndrome, type 2 9758620 26177 1346766 MKS3 Meckel syndrome, type 3 12384791 282630 1313806 MKX mohawk homeobox MKX is a member of an Iroquois (IRX) family-related class of 'three-amino acid loop extension' (TALE) atypical homeobox proteins characterized by 3 additional amino acids in the loop region between helix I and helix II of the homeodomain (Anderson et al., 2006 [PubMed 16408284]).[supplied by OMIM] 737633 16408284,18029348,16344560,16077953,15489334,12477932,7829101,20634891,19235719,17207965 737633 283078 NM_173576,AC024606,CH471072,AK125339,AW020078,BC036207,DB285243 NP_775847,EAW86052,EAW86053,BAG54187,AAH36207,Q8IYA7,ADQ31705 Hs.128193 C10orf48|IFRX|IRXL1|MGC39616 Iroquois family related homeodomain protein|OTTHUMP00000019374|homeobox protein Mohawk|iroquois homeobox protein-like 1 protein-coding 1315192 MLANA melan-A 1580863 20417641,8170938,19384076,19320733,19317896,18626310,18494818,18337837,18181974,18097665,18091323,17768347,17719062,17227112,17082590,17050671,16814609,15695812,15618925,15489334,15305155,14663359,12925214,12819038,12477932,12444131,12119345,12072203,11854361,8006593,12191019,19050104,19717472 2315 NM_005511,AL365360,CH471071,AK312149,BC014423,CR450299,CR613373,CR623651,U06452,U06654 NP_005502,CAI95312,EAW58755,EAW58756,BAG35083,AAH14423,CAG29295,AAA19238,AAA20389,Q16655,Q6ICU4,ABM83183,ABM86385 Hs.154069 MART-1|MART1 OTTHUMP00000021037|antigen LB39-AA|antigen SK29-AA|melanoma antigen recognized by T-cells 1|protein Melan-A protein-coding 1318392 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 11254442,18029348,18330867,18165104,17210142,16652334,16470554,16344560,16001658,15992519,15489334,15461802,15037685,14702039,14615938,12939431,12850517,12665801,12497630,12477932,12189496,12168954,12149273,12111645,11935341,11326298,10591208,10376525,7584028,7584026,10092231,16712791,20560255,19931615 23209 NM_015166,NM_139202,NG_009162,AL022327,CH471138,AF319633,AK124264,AK294048,AK295106,AK297341,AK299841,BC010518,BC028425,BC070042,BF513319,CB155740,CR456460,CR607291,CR609767,D25217,DA212966 NP_055981,NP_631941,CAI42687,CAO03521,EAW73490,EAW73491,AAK60119,BAG54023,BAH11657,BAH11975,BAH12555,BAH13145,AAH28425,AAH70042,CAG30346,BAA04947,Q6NSL6,CAK54442,CAK54741,Q15049 Hs.517729 KIAA0027|LVM|MLC|VL OTTHUMP00000196722|membrane protein MLC1 protein-coding 1354476 MLEC malectin 1580863 10929008,18303019,18524852,15489334,12477932,8590280,20347265 9761 BC016297,NM_014730,AC069234,CH471054,AK124275,BC000371,BE622248,BF794298,BQ183402,BU845446,CA423273,CR599411,CR611089,D63486,U88835 NP_055545,EAW98212,EAW98213,EAW98214,AAH00371,AAH16297,BAA09773,Q14165 Hs.507074 KIAA0152 malectin protein-coding 1315708 MLF1 myeloid leukemia factor 1 1580863,1600902 18029348,20471513,12176995,15861129,19023099,17975119,17967869,17854834,16189514,15489334,15116101,14702039,14506644,12477932,8570204,16169070 1600902 4291 BU619178,NM_001195432,NM_001195433,NM_001195434,AY848700,NM_001130156,NM_022443,AC025033,AC106707,CH471052,AA707847,AK056948,AK096889,AK297488,AK315402,NM_001130157,AY848701,AY848702,BC007045,BC095437,BX647666,DB455518,L49054,NG_027720 NP_001182361,NP_001182362,NP_001182363,NP_001123629,NP_001123628,NP_071888,EAW78685,EAW78686,EAW78687,EAW78688,EAW78689,EAW78690,BAB71320,BAC04885,BAG59906,BAG37795,AAX46015,AAX46016,AAX46017,AAH07045,CAI46058,AAA99997,P58340,Q2TLE3,Q2TLE4,Q2TLE5,Q5HYH4,Q8N8F8,Q96MH1 Hs.85195 OTTHUMP00000213454|OTTHUMP00000213484|OTTHUMP00000213485|OTTHUMP00000213486|OTTHUMP00000213487|OTTHUMP00000213488|OTTHUMP00000213493|OTTHUMP00000213494|myelodysplasia-myeloid leukemia factor 1|myeloid leukemia factor 1|myeloid leukemia factor 1 variant 1|myeloid leukemia factor 1 variant 2|myeloid leukemia factor 1 variant 3 protein-coding 1351502 MLF1IP MLF1 interacting protein The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 8889548,19615732,17595757,17081991,16716197,16622420,16622419,16565220,16287847,15893739,15489334,15116101,15009096,14702039,12941884,12477932,11768657,18029348 79682 AW440254,NM_024629,AC079257,CH471056,AA761728,AF469667,AF516710,AK027121,AK292297,BC031520,BC067802,BC107744,BC131556,BC141854,BG031878,BX355581,CR457376,CR602653,CR620591,DQ907910,DQ907911 NP_078905,EAX04666,AAQ05290,AAQ08228,BAB15665,BAF84986,AAH31520,AAI07745,AAI31557,AAI41855,CAG33657,ABI49142,ABI49143,Q09GN1,Q09GN2,Q71F23 Hs.575032 CENP-50|CENP-U|CENP-U(50)|CENP50|CENPU|CENPU50|FLJ23468|KLIP1|PBIP1 KSHV latent nuclear antigen interacting protein 1|KSHV latent nuclear antigen-interacting protein 1|MLF1-interacting protein|OTTHUMP00000218330|centromere protein U|centromere protein of 50 kDa|interphase centromere complex protein 24|polo-box-interacting protein 1 protein-coding 1314832 MLF2 myeloid leukemia factor 2 1580863 20562859,17353931,8661158,18029348,18095154,16565220,15489334,12477932,9110174,8619474 8079 NM_005439,AC125494,CH471116,AF070539,AK289869,AK313998,BC000898,BC002340,BI544309,BT019393,BT019432,CR541700,CR590498,NR_026581,CR591577,CR592962,CR594365,CR594751,CR595195,CR597712,CR598086,CR601889,CR604849,CR610405,CR610416,CR612490,CR612884,CR613239,CR614975,CR616586,CR617192,CR620761,CR622171,CR624015,CR624020,CR625356,U57342 NP_005430,EAW88743,EAW88744,AAC28632,BAF82558,BAG36710,AAH00898,AAH02340,AAV38200,AAV38239,CAG46501,AAB08988,Q15773,Q5U0N1 Hs.524214 NTN4 myelodysplasia-myeloid leukemia factor 2|myeloid leukemia factor 2 protein-coding 733729 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined. [provided by RefSeq] 1625107,1625108,2293518,2293510,2293517,2293515,2293522,2293514,2293509,2306716,2306714,1580863,1625106,4143515 11470874,11325959,11799067,10748159,20860725,20332274,20533529,20590835,20831982,20709753,20858721,20020535,9218993,9111864,7584997,14688830,14645426,14635101,14632210,14631366,14625810,14574163,14562278,14555508,14529665,14526391,14510941,14508843,14506639,12957287,12939400,12938096,12930688,12920342,12919140,12919137,12817878,12808326,12805408,12799449,12727890,12713560,12712438,12700670,12696065,12684691,12684669,12679904,12660027,12655562,12627520,12627505,12622604,12605036,12592365,12592341,12584560,12529664,12513688,12508345,12496484,12496483,12494471,12477932,12469220,12461746,12419761,12414623,12402334,12384516,12209584,12203784,12177781,12115503,12095971,12023887,12014680,12011151,11999575,11948175,11935297,11920650,11910346,11897781,11895912,11879922,11877377,11872960,11857745,11793469,11793442,11782355,11781295,11748856,11726306,11691925,11606497,11600610,11579115,11562928,11555625,11524701,11474654,11389087,11369138,11343035,11292842,11208710,11158177,11139242,11104559,10928988,10783165,10777691,10713887,10671064,10660333,10627141,10615123,10598809,10480359,10323887,10097147,10037723,9927034,9833759,9831355,9827806,9718327,9611074,9559627,9490293,9399661,9373149,9326924,9311737,9298827,9272156,9259192,9245993,16403449,2414623,8942985,11427529,11429708,14676842,17715146,11809883,8128251,19635727,19622357,19621678,19617759,18627000,18624996,18623088,18618713,18615680,18594839,18594535,18581137,18566915,18561205,18559504,18554281,18547406,18543228,18523027,18497967,18481196,18480060,18470905,18405947,18393252,18373977,18364438,18345027,18339680,18331286,18325052,18301449,18299982,18289827,18270339,18265677,18257912,18206974,18205192,18202787,18200512,18199718,18193434,18177869,18161865,18097574,18094436,18069769,18061181,18056700,18053639,18049911,18033691,18005136,17996647,17987798,17973250,17967441,17959715,17939062,17917741,17914563,17870204,17786961,17785078,17711772,17690979,17671701,17653898,17652529,17591929,17581638,17573746,17569143,17546041,17545526,17510385,17509026,17505997,17498565,17493242,17473388,17465465,17454882,17426439,17417778,17374836,17367211,17348456,17316416,17312306,17276933,17275176,17260015,17230510,17228328,17224235,17219447,17208239,15807307,15786548,15782118,15774782,15769334,15754314,15749592,15735976,15713769,15696491,15626886,15613860,15596632,15583832,15583422,15571801,15558497,15520370,15489334,15475387,15467433,15466831,15382050,15375803,15365996,15365995,15342696,15340264,19536092,19526325,19504447,19494183,19424639,19423536,19419416,19383374,19371218,19364498,19360343,19351817,19337631,19291797,19267393,19259094,19248199,19246465,19244167,19237606,19215248,19207881,19175039,19165197,19164452,19143775,19142183,19132747,19127559,19115210,19109866,19100506,19075283,19064572,19062740,19060925,19052983,19034977,19032668,19016758,19015241,18992917,18990764,18990028,18972272,18949393,18941461,18931482,18851982,18841495,18830263,18787700,18772310,18759827,18726168,18723338,18718023,18713544,18713157,18712731,18708397,18701435,18692554,18683134,18676680,18646042,18641418,17205513,17203532,17160686,17148452,17135187,17109103,17108146,17095871,17076561,17074586,17011982,16995940,16985024,16984616,16984511,16951290,16951227,16940983,16929514,16908935,16902769,16885385,16874859,16810763,16807412,16803849,16786121,16774946,16773692,16771955,16756717,16740762,16724696,16724012,16713580,16699861,16696788,16684085,16636019,16619216,16569647,16541406,16531764,16474933,16436636,16426918,16395668,16357104,16356174,16353134,16344560,16341550,16331552,16329043,16293975,16285940,16237223,16234028,16203774,16189514,16172101,16143124,16116158,16106253,16086119,16061855,16012876,16003840,15996210,15991064,15958648,15952990,15944788,15923275,15918206,15904475,15870899,15862756,15858146,15855819,15849733,15832775,15831578,15816455,15309712,15309527,15300854,15241839,15240532,15226443,15216397,15200905,15184898,15161053,15159312,15139004,15087450,15083191,15064764,15062061,15043284,14985405,14961575,14871813,14767526,14760534,14726676,14716824,14714570,9048925,9087566,9067757,9032648,8993976,8940269,8872463,8797773,8751876,8609062,8571956,8566964,8533151,8145827,8125298,7903889,7812952,7757073,7728749,7705822,7661930,20470425,12810663,15146197,17584637,18842633,19060904,19079988,19170196,19423266,19455606,19464205,19479271,19515846,19567531,19578765,19621725,19625176,19639184,19644562,19661089,19665066,19672700,19685281,19688281,19692168,19697156,19697618,19703417,19707776,19720893,19723918,19728162,19730683,19741564,19760518,19767099,19786217,19855373,19856662,19858398,19861440,19861671,19863800,19876921,19888426,19894224,19898223,19900449,19930554,19936946,19956916,19995443,20004149,20028567,20056646,20060799,20072951,20149637,20167975,20177793,20206180,20210238,20305446,20368715,20403997,20437058,20444249,20450746,20453000,20458443,20489114,20496165,20336543,20531010,20063070,20227930,20373145,20731661,20967208,21056691,21070872,20338046,19714462,20090515,20412120,20591884,20640520,20644561,20708344,19454010,20811672,21091774,20663978 1625107,1625108,2293518,2293510,2293517,2293515,2293522,2293514,2293509,2306716,2306714,1625106,4143515 4292 NG_007109,AC006583,AC011816,AY217549,AY344475,AY706914,CH471055,U17839,U17840,U17841,U17842,U17843,U17844,U17845,U17846,U17847,U17848,U17849,U17850,U17851,U17852,U17853,U17854,U17855,U17856,NM_000249,U17857,EU188675,EU188676,S77856,U07343,U07418,U40978,AB209848,AF001359,AK222810,AK295359,AK298324,AK298583,AK302807,AK311326,AK311365,AK312609,AK316074,AK316264,AU127758,AY517558,BC006850,BX648844,CR609870,CR617505,DQ648888,DQ648889,DQ648890,DQ648891,DQ648892,DQ648893,EU188665,EU188666,EU188667,EU188668,EU188669,EU188670,EU188671,EU188672,EU188673,EU188674,CN414955,DA517219,NM_001167617,NM_001167618,NM_001167619,FB665438 NP_000240,AAO22994,AAQ23474,AAU21566,EAW64483,EAW64484,EAW64485,AAA85687,ABW69171,ABW69172,AAB34135,AAC50285,AAA17374,O00497,P40692,Q0ZAJ3,Q0ZAJ4,Q0ZAJ5,Q0ZAJ6,Q0ZAJ7,Q0ZAJ8,Q16335,Q53GX1,Q59EG3,Q5GJ64,Q64FK0,Q6VBB8,ABW03705,ABW03363,ABW69170,AAA82079,BAD93085,AAB58936,BAD96530,BAG58325,BAG60576,BAG60773,BAH13807,BAG35497,BAH14445,BAH14635,AAT44531,AAH06850,ABG49483,ABG49484,ABG49485,ABG49486,ABG49487,ABG49488,ABW69161,ABW69162,ABW69163,ABW69164,ABW69165,ABW69166,ABW69167,ABW69168,ABW69169,NP_001161089,NP_001161090,NP_001161091,CAR96239 Hs.195364 COCA2|FCC2|HNPCC|HNPCC2|MGC5172|hMLH1 DNA mismatch repair protein Mlh1|OTTHUMP00000208782|OTTHUMP00000210162|mismatch repair protein|mutL protein homolog 1 protein-coding 1319451 MLH3 mutL homolog 3 (E. coli) This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq] 2306716,1600415,1580863 12095912,10615123,19237606,19156873,19115210,19064572,18723338,18551179,18521850,18364438,17656264,17567544,17494052,17482610,17203173,16981255,16885347,16774946,16344560,16322221,15558497,15193445,12800209,12477932,11586295,11317354,11292842,7596406,19762545,19483466,19789190,19808033,20154325,20403997,20437058,20496165 2306716,1600415 27030 NM_001040108,NG_008649,AC006530,AF195658,AL049780,AY963685,CH471061,AB039667,AF195657,AK298777,NM_014381,AL833875,BC012544,BC036866,BC112167,BC143729,BX090851,DA731365,DA805814,L40399 NP_055196,NP_001035197,AAD30184,AAF23905,AAX59030,EAW81211,EAW81212,EAW81213,EAW81214,EAW81215,BAA92353,AAF23904,BAH12867,CAD38732,AAH36866,AAI12168,AAC42005,Q2M1Z1,Q6PIC9,Q8N3N3,Q9UHC1,Q9Y6S7,ADR83390 Hs.436650 HNPCC7|MGC138372 DNA mismatch repair protein Mlh3|mutL protein homolog 3 protein-coding 1352072 MLKL mixed lineage kinase domain-like 737633 17353931,15489334,14702039,12477932,12471243,19844255 737633 197259 NM_152649,NM_001142497,AC004685,AC109599,CH471114,CQ859712,AK091708,AK093013,AK122998,BC028141,BQ575071,CR595250,CR607857,AL833362 NP_689862,NP_001135969,EAW95679,CAH25906,BAC03728,AAH28141,Q5JPC5,Q8NB16,CAI46144 Hs.119878 FLJ34389 mixed lineage kinase domain-like protein protein-coding 1347719 MLL myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) The MLL gene encodes a DNA-binding protein that methylates histone H3 (see MIM 601128) lys4 (H3K4) and positively regulates expression of target genes, including multiple HOX genes (see MIM 142980). MLL is a frequent target for recurrent translocations in acute leukemias that may be characterized as acute myeloid leukemia (AML; MIM 601626), acute lymphoblastic leukemia (ALL), or mixed lineage (biphenotypic) leukemia (MLL). Leukemias with translocations involving MLL possess unique clinical and biologic characteristics and are often associated with poor prognosis. MLL rearrangements are found in more than 70% of infant leukemias, whether the immunophenotype is more consistent with ALL or AML6, but are less frequent in leukemias from older children. MLL translocations are also found in approximately 10% of AMLs in adults, as well as in therapy-related leukemias, most often characterized as AML, that develop in patients previously treated with topoisomerase II inhibitors for other malignancies. More than 50 different MLL fusion partners have been identified. Leukemogenic MLL translocations encode MLL fusion proteins that have lost H3K4 methyltransferase activity. A key feature of MLL fusion proteins is their ability to efficiently transform hematopoietic cells into leukemia stem cells (Krivtsov and Armstrong, 2007 [PubMed 17957188]).[supplied by OMIM] 1625285,1580863 10656681,1835902,20454944,20682395,10821850,11313484,15618964,15199122,15640349,19438726,19309322,19269851,19229974,19220463,19219072,19208841,19187761,19155294,19144982,19109563,19059939,19029444,19028982,18829459,18829457,18806775,18776924,18676843,18656699,18656690,18642054,18617057,18598942,18566324,18559874,18538732,18450602,18195096,18082152,18024407,18007578,17957188,17942719,17908926,17905612,17889710,17854671,17851550,17763464,17698583,17612494,17597811,17581865,17578910,17550846,17410185,17341662,17280715,17268512,17252016,17205059,17203973,17081983,17047146,16990798,16970032,16878130,16843108,16604156,16565220,16433901,16386788,16357944,16328057,16253272,16215946,16193084,16169901,16138344,16138343,16086288,16076867,16061630,16029447,16019540,15996925,15968309,15815718,15774615,15710585,15670842,15621793,15618957,15592432,15542854,15302935,15221006,15160920,15132992,14999297,14990976,14978793,14751928,14704031,14702039,14636557,14580777,14562113,14551139,14504097,12946992,12829790,12743608,12732503,12696071,12665971,12665591,12660026,12646957,12637319,12618768,12618766,12547160,12482972,12477932,12461747,12393701,12205094,12203795,12192052,12138900,12127405,12124344,12123608,12096348,12095151,12034519,12023017,11943339,11930009,11921290,11809673,11733351,11433529,11259575,11181995,11110714,10995463,10920186,10706619,10648423,10588740,10490642,9694699,9537414,9477123,9129043,8950979,8703835,8506328,8414518,8378076,8361504,8219184,8162575,7794749,7689231,7598802,1720549,1423625,1423624,15960974,15960975,20206559,20854876,20979663,11976948,19262598,19264358,19454493,19528237,19528532,19556245,19631984,19722759,19729989,19763085,19835597,19855078,19940862,19956635,19965632,20064463,20093773,20113834,20113838,20299091,20362031,20395514,20520634,9353299,20541477,20844554,20855524,20139053,20818375,20215641,20541251,1303259,14607844,14607843,20332322,20493169,20558618,20961854,20581860,20677832,16510874,16510875,16618927,19454010,20861917,16951254,18840606,19818711,20819778,20969867 1625285 4297 BC015388,BC039603,BC065385,CR609114,NM_001197104,AF036405,AP000941,AP001267,AY373585,CH471065,U04737,X83604,Z69744,AB209508,AF231995,AF231998,AF231999,AF232000,AF232001,AF272370,AF272371,AF272372,AF272378,AF272379,AF272380,AF272381,AF272382,AF422798,AF487905,AF487906,AF512944,AK021845,AK295635,AK303179,AY187920,AY187921,AY187942,AY187943,AY187944,AY187945,BC090876,D14540,FM165198,L01986,NM_005933,L04284,L04731,S66432,S78570,S78571,NG_027813 NP_001184033,NP_005924,AAC95283,AAC95284,AAQ63624,EAW67380,EAW67381,EAW67382,EAW67383,EAW67384,EAW67385,AAA18644,CAA58584,CAA93625,BAD92745,AAG26329,AAG26332,AAG26333,AAG26334,AAG26335,AAG31978,AAG31979,AAG31983,AAG31984,AAG31985,AAG31986,AAL17830,AAM14565,AAM14566,AAM82546,BAG58509,BAG64274,AAO38742,AAO38743,AAO38744,AAO38745,BAA03407,CAQ60122,AAA92511,AAA58669,AAB28545,AAB34770,AAB34771,Q03164,Q59FF2,Q86YN8,Q86YN9,Q86YP0,Q86YP1,Q8NFI1,Q8NI10,Q8NI11,Q8TD97,Q8TD98,Q9HB80,Q9HB81,Q9HB82,Q9HB83,Q9HB87,Q9HB88,Q9HBJ3,Q9HBJ4,Q9UM91,Q9UPD0,Q9Y6P1 Hs.258855 ALL-1|CXXC7|FLJ11783|HRX|HTRX1|KMT2A|MLL/GAS7|MLL1A|TET1-MLL|TRX1 CDK6/MLL fusion protein|CXXC-type zinc finger protein 7|MLL-AF4 der(11) fusion protein|MLL/GAS7 fusion protein|MLL/GMPS fusion protein|histone-lysine N-methyltransferase MLL|lysine N-methyltransferase 2A|trithorax-like protein|zinc finger protein HRX protein-coding 1350607 MLL2 myeloid/lymphoid or mixed-lineage leukemia 2 1580863 9247308,16603732,14992727,19219072,18082152,17178841,17081983,15302935,15231748,12482968,12477932,10737800,9225980,8896557,8595911,16951254,16510874,20808952,20937768,19221051,19556342,20711175,16510875,17761849 8085 NM_003482,AC011603,CH471111,AB209494,AF010403,AF010404,AL359940,AW997729,BC039197,BC040663,BF739070,BF876885,BF993837,BI031059,BX956541,CR749712,U80756,X85325,Y08267,NG_027827 NP_003473,EAW58034,EAW58035,EAW58036,BAD92731,AAC51734,AAC51735,AAH39197,AAB91448,CAA69593,O14686,O15418,Q59FG6,Q6PIA1,Q99414 Hs.727482 AAD10|ALR|CAGL114|KMT2B|KMT2D|MLL4|TNRC21 ALL1-related protein|histone-lysine N-methyltransferase MLL2|lysine N-methyltransferase 2B|myeloid/lymphoid or mixed-lineage leukemia protein 2|trinucleotide repeat containing 21 protein-coding 1347083 MLL3 myeloid/lymphoid or mixed-lineage leukemia 3 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq] 1580863 15365572,15342556,14702039,12853948,12482968,12477932,12168954,20936779,17353931,19240061,19221051,19215798,17614854,17500065,17081983,16916647,16344560,11891048,11718452,10819331,9847074,8889548,19913121,20600896,20628086,17761849,19556342 58508 BU685177,BX640742,CD513584,DA266956,AC005631,AC006017,AC006474,AC104692,AB040939,AF264750,AK022687,AK025553,AK025911,AK075113,AK095628,AL832387,AL833924,AY024361,BC011921,BC151837,BP281562,BU623509,NM_170606 CAE45854,Q6N019,Q75MN6,Q8NEZ4,NP_733751,AAD45822,AAS00364,BAA96030,AAF74766,BAC11409,CAD38780,AAK00583,AAI51838 Hs.647120 DKFZp686C08112|FLJ12625|FLJ38309|HALR|KIAA1506|KMT2C|MGC119851|MGC119852|MGC119853 ALR-like protein|histone-lysine N-methyltransferase MLL3|histone-lysine N-methyltransferase, H3 lysine-4 specific|homologous to ALR protein|lysine N-methyltransferase 2C|myeloid/lymphoid or mixed-lineage leukemia protein 3 protein-coding 1351736 MLL3P MLL3 pseudogene 387499 1605411 MLL4 myeloid/lymphoid or mixed-lineage leukemia 4 This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq] 16199523,18838538,19060922,20433758,10744724,17474147,10409430,18029348,18320596,17081983,16713569,15489334,15302935,15231748,15057824,12477932,10637508,9205841,9171351,17166833,19221051 9757 NM_014727,AD000671,AB002302,AF104918,AF105279,AF105280,AF186605,AJ007041,BC007353,BC009337,BC026861 NP_055542,BAA20763,AAD17932,AAD26113,AAD26112,AAD56420,CAB45385,AAH07353,AAH09337,Q9UMN6 Hs.92236,Hs.676457 HRX2|KIAA0304|MLL2|TRX2|WBP7 KMT2D|WBP-7|WW domain binding protein 7|WW domain-binding protein 7|histone-lysine N-methyltransferase MLL4|lysine N-methyltransferase 2D|mixed lineage leukemia gene homolog 2|myeloid/lymphoid or mixed-lineage leukemia protein 4|trithorax homolog 2|trithorax homologue 2 protein-coding 1320090 MLL5 myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 1580863 20439461,19377461,18573682,18231586,14718661,14702039,12477932,12101424,11597142,9218106,7672722 55904 AY195568,AY195569,AY211525,AY222296,AY234382,AY438698,AY438699,BC001296,BC009061,BC016382,BC024658,BC040004,BC040848,NM_182931,NM_018682,AC005065,AC005070,AC007384,CH236947,CH471070,AF067804,AF519459,AK000940,AK024088,AY113691,AY147037,AY157990,BC053906,BC062583,BC142987 AAN76325,AAO47009,AAO47010,AAO86416,AAO64395,AAO89072,AAR13893,AAR13894,AAH01296,AAH40004,NP_891847,NP_061152,AAD04721,EAW83355,EAW83356,EAW83357,EAW83358,AAF75564,AAM74947,BAB14821,AAN17675,AAH53906,AAH62583,AAI42988,O95038,Q86W16,Q8IZD2,Q9H802,Q9NS29 Hs.592262 FLJ10078|FLJ14026|HDCMC04P|KMT2E|MGC70452 histone-lysine N-methyltransferase MLL5|lysine N-methyltransferase 2E|myeloid/lymphoid or mixed-lineage leukemia protein 5 protein-coding 1345161 MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 1580863 12665591,17252016,17081983,16433901,7991593,8080983,12477932,11526240,11313972,10995463,8378076,1423624,15856011,20113834,20379614,19956800,18029348,18829457,18829459 4298 NM_005934,AC011471,CH471139,AF373587,AL365410,BC047008,BC063667,BC084564,CR594829,CR598170,D14539,L04285 NP_005925,EAW69106,CAB96954,BAA03406,AAA58457,Q03111,Q9NPS2,AAI46319,AAI46386,AAI48807 Hs.10095 ENL|LTG19|YEATS1 ENL/MLL fusion|MLLT1/MLL fusion|YEATS domain-containing protein 1|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1|protein ENL protein-coding 1322026 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 1580863,1598771 9737689,12750376,7888665,18029348,18037964,17868029,16215946,15851025,15164054,14702039,12482966,12477932,12453419,12127405,11774384,11756182,11423977,10997963,10860745,19913121,20628086,15856011,19443658 1598771 8028 AL161799,AL357372,AL358780,AL359697,CH471072,AB209755,AF060929,AF060934,AF060935,AF060938,AK128264,AK301213,AK310803,AL137295,AY598745,BC032532,BC052798,BC065376,BC080577,BC094844,NM_004641,BC129946,BX640774,BX648210,CR591323,CR600207,U13948,NG_027818,NM_001195626,NM_001195627,NM_001195628,NM_001195630 NP_004632,CAI39663,CAI39664,CAI39665,CAI39667,CAI39668,CAI41348,CAI41349,CAI41350,CAI41351,CAI13979,CAI13980,CAI13982,CAI13983,CAI13985,CAH73410,CAH73411,EAW86161,EAW86162,EAW86163,EAW86164,EAW86165,BAD92992,AAC16701,AAC16706,AAC16707,AAC16710,BAG62788,AAT47519,AAH80577,CAE45872,CAI46260,AAA79972,O60696,O60699,P55197,Q59EQ6,Q5HYC6,Q5JT34,Q5JT35,Q5VX90,Q6N002,Q71UR7,AAI56207,AAI56950,NP_001182555,NP_001182556,NP_001182557,NP_001182559,Q66K63 Hs.30385 AF10|DKFZp686E10210|MGC75086 ALL-1 fused gene from chromosome 10|ALL1-fused gene from chromosome 10 protein|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 10|myeloid/lymphoid or mixed-lineage leukemia translocated to, 10|protein AF-10|type I AF10 protein protein-coding 1349701 MLLT10L myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10-like 140678 AL441988 1605692 MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq] 20596645,19396856,18852119,17929166,16710414,15530661,15489334,14702039,12477932,7833468 10962 AK057755,BC006471,BC007079,BC008445,BC009624,BC019253,BC021703,BC022448,BC032996,BT006799,CR456879,CR542150,CR593527,CR599332,CR600823,CR602062,CR603022,CR604725,CR604855,CR606316,CR608615,CR608900,CR612384,CR614314,U16954,NM_006818,AL590133,CH471121,AK056089 AAH06471,AAH08445,AAH09624,AAH19253,AAH21703,AAH22448,AAP35445,CAG33160,CAG46947,AAA70088,Q13015,Q6FGF7,ABM82355,ABM85530,NP_006809,CAI13350,EAW53476,BAG51620 Hs.75823 AF1Q|RP11-316M1.10 ALL1 fused gene from chromosome 1q|ALL1-fused gene from chromosome 1q|protein AF1q protein-coding 737507 MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 1580863 16636056,17332896,19591803,19864429,20379614,20395514,18029348,8506309,18538732,18371451,17581865,16328057,16215946,16189514,16086288,15381384,14603337,12776190,12477932,11439343,11313972,10898795,9373149,8414510,8125298,16169070,20689807 4300 NM_004529,AL163193,AL354879,AL512635,AL513498,AL627410,CH471071,AK225957,AK297587,AK301474,AK312914,BC030550,BC036089,BX649194,D16688,L13744 NP_004520,CAI14771,CAH70705,CAH70706,CAH70707,EAW58630,EAW58631,EAW58632,BAH12621,BAH13491,BAG35760,AAH36089,CAE46213,BAA04090,AAA58361,P42568,Q6LEQ8,Q6MZE2,Q8IVB0 Hs.591085 AF9|FLJ2035|YEATS3 ALL1-fused gene from chromosome 9 protein|YEATS domain-containing protein 3|myeloid/lymphoid or mixed-lineage leukemia (trithorax (drosophila) homolog); translocated to, 3|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3|myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein|protein AF-9 protein-coding 731514 MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 AF6 is a Ras (see HRAS; MIM 190020) target that regulates cell-cell adhesions downstream of Ras activation. It is fused with MLL (MIM 159555) in leukemias caused by t(6;11) translocations (Taya et al., 1998 [PubMed 9722616]).[supplied by OMIM] 1580863 10856295,8242616,19176753,18052198,17967423,17491594,17081983,17013812,16964243,16819513,16086288,16051602,15684424,15302935,15144186,14702039,14574404,12808105,12590145,12477932,12456712,12446711,12067721,11956217,11907041,11788587,11544254,11024295,10922060,10744716,10733589,10617658,10583506,10545207,10446149,10382971,10334923,10225955,10224125,10085297,9722616,9707552,9679199,9349501,9334353,8889548,8589040,10521485,10620020,10613913,17353931,20413783,15231748,15324660,15811349,20379614,18029348 4301 NM_001040000,AB011399,AL009178,AL049698,AL731868,CH471051,E13503,AB209420,AF085836,AK055689,AK091815,AL161973,BC014505,BF732725,BQ646972,BX649158,CA503365,U02478,AL732359,AI271860,BE503462,D60168 NP_001035089,BAA32483,BAA32484,BAA32485,CAI20900,CAI20901,CAI20902,CAI20903,CAI20904,CAI42812,CAI42813,CAI42814,CAI42815,CAI42816,CAI40824,CAI40825,CAI40826,CAI40827,CAI40828,CAI40829,CAI40830,EAW47480,EAW47481,EAW47482,EAW47483,EAW47484,EAW47485,EAW47486,BAD92657,CAB82312,AAH14505,AAC50059,P55196,Q59FP0,Q5JPV5,Q5TIG5,Q96C95,Q9UM08,AAI56049,AAI56935,Q5TIH0 Hs.708726,Hs.614974 AF-6|AF6|AFADIN|FLJ34371|RP3-431P23.3 ALL1-fused gene from chromosome 6 protein|OTTHUMP00000017633|OTTHUMP00000017635|OTTHUMP00000223316|afadin|protein AF-6 protein-coding 1315450 MLLT6 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 1580863 19864429,18029348,16086288,14702039,12477932,16189514,15588942,16713569,8058765,20098747 4302 NM_005937,AC006449,CH471152,AB209633,AF075118,AK027133,AK057058,AK092893,AK310435,AK310437,AL133659,AL832481,BC007237,BC007859,BC064612,BX648298,U07932 NP_005928,EAW60521,EAW60522,EAW60523,EAW60524,BAD92870,BAB15670,CAB63772,AAH07237,AAH07859,AAH64612,AAA21145,P55198,Q6P2C6,Q96I32 Hs.91531 AF17|FLJ23480 ALL1-fused gene from chromosome 17 protein|Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 6|protein AF-17|trithorax homolog protein-coding 1347043 MLN motilin This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as motilin-associated peptide (MAP). Two transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. [provided by RefSeq] 1580863 11461914,10381885,18609694,18358279,18234640,17595255,15489334,15340161,12732349,12477932,12054506,20558539,19553259,19851445,11259768,7989042,6194039,3666144,2914635,2737284,2574660,20338210,18577758 4295 NM_002418,NM_001040109,AL138889,AL158049,CH471081,M30277,M30278,M30279,M30280,M30281,X15392,X15393,X15394,X15395,X15396,AW014210,BC069675,BC112314,BC143981,Y00695,NM_001184698 NP_002409,NP_001035198,CAI21441,CAI21526,EAX03752,EAX03753,AAA59860,CAA33448,AAH69675,AAI12315,AAI43982,CAA68690,P12872,NP_001171627,ADR82811 Hs.2813 MGC138519 OTTHUMP00000221654|prepromotilin|promotilin protein-coding 1354387 MLNR motilin receptor 1580863 10644557,9441746,10381885,18420306,18183601,18032475,16531413,15057823,12606621,12054506,11461914,11322507,11259768,16754659,15452121,20424473 2862 NM_001507,AF034632,AL137000,CH471075,AY603964 NP_001498,AAC26081,CAC19107,EAX08813,AAT35806,O43193,AAI48476 Hs.248126 GPR38|MTLR1 G protein-coupled receptor 38|G-protein coupled receptor 38|motilin receptor protein-coding 1321808 MLPH melanophilin This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 11504925,9373149,8125298,11773082,15059972,12578829,12006666,11856727,16415175,15517821,15489334,15117313,14730011,14702039,12975309,12897212,12603861,12531900,12477932,12221080,12189142,12062444,11980908,17045265 79083 NM_024101,NM_001042467,NG_007286,AC104667,AC112721,CH471063,AK022207,AK056867,AK094168,AK225381,AK292929,AK296745,AK310821,AY358857,BC001653,BC051269,BM272410,BM992819,CR597608 NP_077006,NP_001035932,AAY24045,AAY24136,EAW71112,EAW71113,EAW71114,EAW71115,EAW71116,BAB13984,BAG52834,BAF85618,BAG59329,AAQ89216,AAH01653,AAH51269,Q53QF3,Q53QV8,Q6UWC1,Q9BV36,ADR82715 Hs.102406 MGC2771|MGC59733|SLAC2-A OTTHUMP00000202834|OTTHUMP00000202836|OTTHUMP00000202837|exophilin-3|melanophilin|slp homolog lacking C2 domains a|synaptotagmin-like protein 2a protein-coding 1345641 MLPL1 MARCKS-like protein-like 1 4305 1353795 MLS microphthalamia with linear skin defects 8364577 4307 736229 MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) 1626104,2308795 12408816,15467718,15718470,15755954,15809305,14702039,12718876,12477932,11182770,16183647,15066126,12719976,15854902,20427287,20562859,16344560 1626104,2308795 64223 CR617593,CR618215,CR621798,CR625821,AC009065,CH471112,AF195883,AK021536,AK022227,AK098762,AK123195,AK302201,AK304390,AY223837,BC001313,BC017119,BC020499,BC052292,BC088354,BI761765,BQ014640,CR591683,CR596002,CR596334,CR596651,CR599293,CR599764,CR602887,CR603025,CR604093,CR605614,CR605693,CR610557,CR610748,CR610797,CR613800,CR613836,NM_022372,AI933692,AU117583,AU121635,DA382215,NM_001199173,NM_001199174,NM_001199175 Q9BVC4,ABM82537,ABM85729,ABW03392,NP_071767,EAW85537,EAW85538,EAW85539,EAW85540,EAW85541,EAW85542,AAF04308,BAG51036,BAB13990,BAG63562,BAG65225,AAO73410,AAH01313,AAH17119,AAH52292,AAH88354,NP_001186102,NP_001186103,NP_001186104 Hs.29203 GBL|GbetaL|LST8|MGC111011|POP3|WAT1 G protein beta subunit like|G protein beta subunit-like|TORC subunit LST8|gable|mammalian lethal with SEC13 protein 8|protein GbetaL|target of rapamycin complex subunit LST8 protein-coding 1344252 MLVI2 Moloney murine leukemia virus (MoMuLV) integration site 2 homolog 2793187 4309 1602902 MLX MAX-like protein X The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 11230181,10918583,18458340,16782875,15664996,15489334,14702039,12477932,12446771,10593926,8973301,8889549,8889548,7490091,11073985,16189514,15163635,14742444 6945 U34879,AA024982,AB209235,AF203978,BC010689,BC014537,BE907687,BI517590,BQ186038,BT009812,CR590342,CR606467,AF213667,AF213668,AK000150,AK290258,AK296114,AK303221,AK309628,AK314378,AK315432,NM_170607,NM_198204,NM_198205,AC067852,CH471152,AF213666 EAW60845,BAD92472,AAF14638,BAG37820,AAH10689,AAP88814,Q59G74,Q9UH92,AAG40145,AAG40146,AAG40147,BAA90977,BAF82947,BAG58863,BAG64308,BAG37005,NP_733752,NP_937847,NP_937848,EAW60841,EAW60842,EAW60843,EAW60844 Hs.383019,Hs.714749 MAD7|MXD7|TCFL4|bHLHd13 BigMax protein|MAX-like bHLHZIP protein|class D basic helix-loop-helix protein 13|max-like protein X|protein BigMax|transcription factor-like 4|transcription factor-like protein 4 protein-coding 1602332 MLXIP MLX interacting protein MONDOA forms heterodimers with MLX (MIM 602976) that can bind to and activate transcription from CACGTG E boxes (Billin et al., 2000 [PubMed 11073985]).[supplied by OMIM] 18458340,16782875,12826659,12477932,12446771,11073985,10048485,19706488,20385767 22877 NM_014938,AC130894,CH471054,AB020674,AF245480,AF245481,AF312918,BC017656,BC028309,BC039704,BC069272,BC151841,AC156455,AC190384 NP_055753,EAW98304,EAW98305,EAW98306,BAA74890,AAL55689,AAL55690,AAG34121,AAH17656,AAH28309,AAH39704,AAI51842,Q9HAP2 Hs.437153,Hs.721711 KIAA0867|MIR|MONDOA|bHLHe36 MLX-interacting protein|Mlx interactor|MondoA|class E basic helix-loop-helix protein 36|transcriptional activator MondoA protein-coding 1343873 MLXIPL MLX interacting protein-like This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq] 634534,1580599,1580863 11230181,10780788,9860302,12721358,19487539,19252981,19148283,19060911,19060906,18950580,18946681,18606808,18591247,18193046,18193044,18193043,16644671,20864672,20965718,20972250,15163635,14759258,14702039,12477932,11724780,11698644,15489334,21036147,20570916,20580033,20679960,14742444,19571538,19680233,19913121,19995986,20025850,20158509,20167577,20657596 634534,1580599 51085 NM_032951,NM_032952,NM_032953,NM_032954,NG_009307,AC005089,AF156673,CH471200,AF056184,AF156603,AF245470,AF245471,AF245472,AF245473,AF245474,AK055029,BC012925,FJ515858 NP_116569,NP_116570,NP_116571,NP_116572,AAF68176,EAW69660,EAW69661,EAW69663,EAW69668,AAD28084,AAF68174,AAK20935,AAK20936,AAK20937,AAK20938,AAK20939,AAH12925,Q9NP71,ACS13745,ACS13746,ACS13747 Hs.647055 CHREBP|MIO|MONDOB|WBSCR14|WS-bHLH|bHLHd14 MLX-interacting protein-like|Mlx interactor|OTTHUMP00000211546|WS basic-helix-loop-helix leucine zipper protein|Williams Beuren syndrome chromosome region 14|Williams-Beuren syndrome chromosomal region 14 protein|Williams-Beuren syndrome chromosome region 14 protein 1|Williams-Beuren syndrome chromosome region 14 protein 2|carbohydrate response element binding protein|carbohydrate-responsive element-binding protein|class D basic helix-loop-helix protein 14 protein-coding 731588 MLYCD malonyl-CoA decarboxylase The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq] 1600798,1300048,1580863 9869665,10417274,10455107,18660489,18614968,18314420,17186413,17081983,16434556,16386195,15489334,15206948,15003260,14702039,12955715,12477932,20702857,20877624 1600798 23417 NM_012213,NG_009079,AC009119,CH471114,AF090834,AF097832,AF153679,AK094095,BC000286,BC052592,CR626099 NP_036345,EAW95513,AAD48994,AAD16177,AAD34631,AAH00286,AAH52592,O95822 Hs.644610 MCD|MGC59795 malonyl coenzyme A decarboxylase|malonyl-CoA decarboxylase, mitochondrial protein-coding 1312825 MMAA methylmalonic aciduria (cobalamin deficiency) cblA type The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq] 1580863,1600803 19371216,17957493,17597648,16641088,15523652,15489334,15308131,14702039,12477932,12438653,20876572 1600803 166785 NM_172250,NG_007536,AC093864,AF524841,AF524846,CH471056,AK094722,AK126662,BC101178,BC101179,BC101180,BC101181,CR606328,CR619215,AF524842 NP_758454,AAN77287,EAX05036,BAG54352,AAI01179,AAI01180,AAI01181,AAI01182,Q495G5,Q495G6,Q8IVH4 Hs.452864 MGC120010|MGC120011|MGC120012|MGC120013|cblA OTTHUMP00000220105|methylmalonic aciduria (cobalamin deficiency) type a|methylmalonic aciduria type A protein, mitochondrial protein-coding 1347796 MMAB methylmalonic aciduria (cobalamin deficiency) cblB type This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. [provided by RefSeq] 1600420 19060906,18251506,18193043,17957493,17597648,17410422,16344560,15781192,15489334,15347655,12514191,12477932,12471062,7829101,20159775,19487539,19605566,19625202,20160193,20430392,20864672,20556797,20877624,20972250,20571754 1600420 326625 NG_007096,AC007570,AF550404,CH471054,AK295211,AK312598,BC005054,BC011831,BI497024,CR593756,CR598678,CR609621,CR614327,CR615060,CR619514,CR619543,DA718661,NM_052845,AF550396,AF550397,AF550398,AF550399,AF550400,AF550401,AF550402,AF550403,FJ515859 NP_443077,AAN85091,EAW97869,BAG58206,BAG35490,AAH05054,AAH11831,Q96EY8,ACS13749 Hs.12106 ATR|MGC20496|cblB|cob ATP:cob(I)alamin adenosyltransferase|ATP:corrinoid adenosyltransferase|aquocob(I)alamin vitamin B12s adenosyltransferase|cob(I)alamin adenosyltransferase|cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial|methylmalonic aciduria (cobalamin deficiency) type b|methylmalonic aciduria type B protein protein-coding 1601765 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 19370762,19200761,19199254,18779575,18245139,18164228,17431913,16710414,16311595,12477932,20219402,20877624,15489334,19447654,19700356,19760748,19767224,19801555,20237496,8889548 25974 NM_015506,AL451136,CH471059,AK098537,AL080062,BC006122,BM980565,BU632364,BU839693,NG_013378 NP_056321,CAI13094,EAX06983,CAB45693,Q9Y4U1,AAH06122 Hs.13024 DKFZp564I122|FLJ25671|RP11-291L19.3|cblC OTTHUMP00000009243|methylmalonic aciduria and homocystinuria type C protein protein-coding 1346733 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X. 19913121,20628086,15489334,12477932,11042152,9110174,8619474,18385497,15815621 27249 NG_009189,AC110782,CH471058,AA857973,AF060224,AF131802,AF161510,AK310001,AK313284,BC000932,BC010894,BC022859,BC023995,BG610637,BM456421,BU570084,CR592888,CR594994,CR595331,CR596944,CR611592,CR612420,NM_015702,CR624911,CR626278 NP_056517,AAY14891,EAX11533,EAX11534,EAX11535,EAX11536,EAX11537,AAG43124,AAD20048,AAF29125,BAG36092,AAH00932,AAH10894,AAH22859,AAH23995,Q9H3L0 Hs.5324 C2orf25|CL25022|cblD OTTHUMP00000204371|OTTHUMP00000205995|methylmalonic aciduria and homocystinuria type D protein, mitochondrial|protein C2orf25, mitochondrial protein-coding 1346726 MMD monocyte to macrophage differentiation-associated This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq] 1580863 20237496,7503749,16044242,15489334,12477932 23531 NM_012329,AC006269,AC007638,CH471109,AK303810,AK312760,BC026324,BI546449,CR541893,N40480,X85750,AY424289,HD061950 NP_036461,EAW94541,EAW94542,BAG64763,BAG35626,AAR08377,AAH26324,CAG46691,CAA59752,Q15546,ABM83288,ABM86495,CBS99541 Hs.463483,Hs.656753 MMA|PAQR11 macrophage maturation-associated|monocyte to macrophage differentiation protein|progestin and adipoQ receptor family member 11|progestin and adipoQ receptor family member XI protein-coding 1315160 MMD2 monocyte to macrophage differentiation-associated 2 737633,1580863 19240061,16044242,15489334,14702039,12477932,20570966,20237496,20379614 737633 221938 AK094524,AY424288,BC024012,BC037881,BC048346,BC067905,CR598494,NM_001100600,NM_198403,AC053546,AC092032,CH471144,HD061948 EAW87308,AAR08376,AAH37881,AAH67905,Q8IY49,NP_001094070,NP_940685,EAW87305,EAW87306,EAW87307,CBS99540 Hs.558694 FLJ37205|PAQR10 OTTHUMP00000200649|monocyte to macrophage differentiation factor 2|monocyte-to-macrophage differentiation factor 2|progestin and adipoQ receptor family member 10|progestin and adipoQ receptor family member X protein-coding 737353 MME membrane metallo-endopeptidase This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq] 1581742,1581931,1600817,1600813,1600811,1580863 20204382,19437324,19326964,19250583,19196432,19152193,19057576,19047112,18806483,18619643,18605079,18602473,18545147,18539150,18518902,18393807,18370954,18292286,18182043,18092952,18042078,17953966,17928142,17906676,17885484,17876294,17712175,17662271,17591969,17363457,17335564,17296585,17294442,17101991,16984256,16948517,16943769,16940054,16900384,16900210,16877296,16857799,16722930,16700740,16652149,16400325,16344560,16226260,16123216,15945081,15870909,15860464,15785408,15720419,15578072,15548496,15502805,15489334,15469471,15464186,15294904,15286660,15283675,15217945,15205682,15100223,14968440,14767532,14749444,14747736,14739539,14673956,14550292,12785004,12754519,12754344,12657655,12529960,12527400,12485446,12477932,12447961,12393702,12387451,12203213,12150966,12140380,12105192,12102663,12087466,12070597,11906289,11849775,11367540,11170145,11140838,11104793,10669592,9857225,9659899,9313778,9247159,9232196,8943850,8687431,8631021,8168535,8003005,7532408,3162217,3157879,2994530,2984462,2972276,2971756,2968607,2736261,17845760,20061637,20459800,20546336,20711432,20856894,20685603,20175824,20184665,20663017,17220478,17342744,2521388,1660144,19515046,2612455,2531377,2528730,2521237,2417254,2201681,15668537,17207277,19127446,19287335,19448593,19606063,19656156,19661328,19752720,19787248,19816087,19817893,19864659,19897485,19925052,19948975,19961253,20014550,20051779,20051780,20105452,20376800,20390424,20468064,19019493,20506111,20716621,21052031 1581742,1581931,1600817,1600813,1600811 4311 NM_000902,NM_007287,NM_007288,NM_007289,AC106724,AC117384,CH471052,EU326307,M26605,M26606,M26607,M26608,M26609,M26610,M26611,M26612,M26613,M26614,M26615,M26616,M26617,M26618,M26619,M26620,M26621,M26622,M26623,M26624,M26625,M26626,M26627,M26628,X79438,AK291761,AK310664,BC101632,BC101658,BC106070,BC143465,BM151602,BP418894,BX647134,DA574242,DB142029,J03779,X07166,Y00811 NP_000893,NP_009218,NP_009219,NP_009220,EAW78753,EAW78754,EAW78755,EAW78756,EAW78757,EAW78758,ACA05913,ACA05914,AAA52294,BAF84450,AAI01633,AAI01659,AAI06071,AAI43466,AAA51915,CAA30157,CAA68752,P08473,Q3KQS6 Hs.307734 CALLA|CD10|DKFZp686O16152|MGC126681|MGC126707|NEP|SFE atriopeptidase|common acute lymphocytic leukemia antigen|enkephalinase|membrane metallo endopeptidase|membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase)|membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)|membrane metallo-endopeptidase variant 1|membrane metallo-endopeptidase variant 2|neprilysin|neutral endopeptidase 24.11|skin fibroblast elastase protein-coding 1603610 MMEL1 membrane metallo-endopeptidase-like 1 The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq] 18029348,18794853,19674979,20049410,20190752,20439292,18539150,16710414,16344560,15489334,15121861,14702039,12477932,11560781,10542292,20453842,20634891,20639879 79258 AL139246,DB089501,NM_033467,AL589746,AL831784,AX033274,CH471183,AF336981,AK093058,BC101027,BC101028,BC101029,BC101030 CAX30814,Q495T6,NP_258428,CAI22652,CAI17336,CAC09978,EAW56080,EAW56081,EAW56082,AAL08942,BAG52644,AAI01028,AAI01029,AAI01030,AAI01031 Hs.591453 MGC119454|MGC119455|MGC119456|MMEL2|NEP2|NEPII|NL1|NL2|SEP NEP2(m)|OTTHUMP00000217733|OTTHUMP00000217734|membrane metallo-endopeptidase-like 1|membrane metallo-endopeptidase-like 2|neprilysin II|neprilysin-2|soluble secreted endopeptidase|zinc metallopeptidase protein-coding 1343591 MMGT1 membrane magnesium transporter 1 737633,1580863 18057121,16381901,15489336,12477932,11256614,11230166,11076863 737633 93380 NM_173470,AL732579,AL953870,CH471150,AK295829,AK312409,AL157477,BC033588 NP_775741,CAI39920,EAW88483,EAW88484,EAW88485,BAG58645,BAG35322,AAH33588,Q8N4V1,CAL38628,CAI41375 Hs.110702 TMEM32 membrane magnesium transporter 1|transmembrane protein 32 protein-coding 1317388 MMP1 matrix metallopeptidase 1 (interstitial collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes a secreted enzyme which breaks down the interstitial collagens, types I, II, and III. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants.[provided by RefSeq] "Expression of collagenase-1 is transcriptionally regulated by growth factors, hormones, and cytokines, and the proteolytic activity is accurately controlled through activators and inhibitors such as alpha-macroglobulins, and tissue inhibitors of metalloproteinases (TIMPs)." (PMID 15474975) 1581215,1582543,1580553,1582530,1582532,1582537,1582525,1582539,1582361,1582538,1582365,1582527,1582519,1582522,1582536,1582520,1582524,1582535,1582540,1582541,1582542,1580863,4890371,4890375,4890382,4890377,4890379,4890372 20584750,19723873,19787068,19789190,19797822,19821768,19836620,19843588,19883500,19885545,19892918,19901964,19902888,19906289,19911067,19923455,19951575,19953231,19963114,20031604,20038976,20078883,20095886,20102637,20111728,20204402,20392358,20435584,20437278,20452482,20453000,20460098,20467172,20471133,20483790,20484597,9920899,19708869,10859319,18597171,19170196,19246282,19345347,19381070,19383080,19398000,19435861,19464975,19489099,19506087,19542367,19543729,19550047,19551542,19577645,19578796,19584257,19585142,19591174,19610062,19625176,19659894,19664242,19681861,19692168,3027129,2167156,19643940,19639194,19634113,19628284,19620856,19608765,19590686,19551141,19527514,19508478,19507256,19507017,19504098,19497711,19489686,19480010,19442604,19432148,19427971,19424605,19379698,19336370,19321798,19318431,19307187,19303106,19302792,19296842,19293200,19282863,19279308,19250650,19243899,19221176,19197535,19191136,19188843,19132754,19099971,19094243,19056482,19055644,19054653,19040577,19020733,19019335,19006025,18988801,18952406,18853190,18852494,18851945,18835135,18823886,18818748,18807561,18802702,18798060,18755271,18719610,18710412,18705799,18676680,18674955,18636124,18634015,18625914,18625714,18621744,18619594,18619044,18617682,18602909,17607721,17599818,17589947,17564313,17558677,17543340,17537400,17508023,17502998,17488873,17475625,17473191,17441888,17434489,17429393,17383306,17373931,17363767,17363400,17352267,17339606,17335808,17316652,17311017,17303772,17245132,17178858,17151781,17145822,17125518,17109104,17077200,17050530,17035633,17033924,17009408,17000679,16990034,16972994,16972255,16967187,16945025,16937230,16921115,16921111,16912186,16899023,16890240,16877347,16850107,16807369,16774538,16767840,16767672,16739355,16714289,16681691,16676616,16638593,16623785,16580524,16569638,16538639,16453302,16424284,16410344,16405530,16386110,16359987,16356191,16353148,16321971,16311244,16302919,16301860,16288711,16278291,16278009,16273295,16267613,16256416,16214204,16213873,16210545,16210018,16202315,16168111,16128620,16103692,16098031,16080875,16076963,15965045,15957163,15955221,15944607,15939478,15930517,15879464,15866608,15864312,15855654,15832405,15818737,15817699,15804950,15767330,15754326,15737206,15728253,15718477,15707890,15701845,15688379,15661214,15654971,15654517,15638833,15617836,15612581,15611040,15610507,15534109,15528217,15499569,15489334,15476622,15467742,15459390,15383690,15375490,15350133,15337261,15319295,15312099,15308634,15291299,15288468,15288123,15274394,15257748,15200479,15194213,15184373,15182858,15149160,15142265,15127970,14986114,14982353,14962105,14764579,14730602,14729059,14707454,14707126,14705229,14692651,14679206,14669348,14659851,14626631,14581488,14558091,14550952,14550555,14515149,14512169,14499230,13129650,12969782,12960156,12949792,12904296,12880418,12873541,12861139,12845675,12837283,12788533,12787920,12784383,12767235,12706853,12692352,12676763,12672023,12667140,12651627,12622858,12572877,12528113,12517806,12515907,12477932,12473595,12432557,12393408,12364729,12229968,12225803,12177784,12149192,12145314,12071839,12060661,12054629,12054564,12050187,12034345,12032154,12009332,12005449,11934016,11918701,11875051,11836255,11831026,11824952,11762702,11751876,11705862,11691799,11598182,11586041,11546917,11528521,11489811,11485914,11381077,11359786,11359774,10986281,10947989,10922468,10706100,10419448,10224132,9737711,9688535,20160424,19602108,16191276,20225236,19915152,20091096,20452670,17611984,16532917,9558113,18588890,18586252,18569608,18565735,18557930,18552024,18508261,18506448,18503554,18496696,18483334,18480665,18472160,18469853,18468407,18459971,18449210,18447576,18439317,18426080,18366705,18360703,18323784,18314110,18298349,18276095,18261580,18259971,18212480,18194849,18178580,18164995,18097620,18089791,18060744,18035073,18030675,18028894,18027871,18025848,18025061,18006830,18006768,17996495,17990358,17986285,17980449,17980059,17949787,17921324,17919326,17901377,17893005,17765638,17714581,17709546,17697361,17669621,17663001,17625450,9484219,9373149,9063449,8921407,8609233,8278810,8226919,8216228,8125298,8090713,8031754,8027075,7998967,7896811,7656013,7641497,7523391,3037355,3032950,3030290,3009463,2557822,1645757,1311327,15972662,14982725,20219323,20357815,20463008,20463013,20873121,20485444,19913121,20538124,20565774,20587546,20609440,20616161,20616708,20628086,20628624,20648623,20655738,20662554,20673868,20706772,20808730,21154774,20201953,20855151,20192597,20826916,20827277,20852404,20860530,20935575,21048031,21070736 1581215,1582543,1580553,1582530,1582532,1582537,1582525,1582539,1582361,1582538,1582365,1582527,1582519,1582522,1582536,1582520,1582524,1582535,1582540,1582541,1582542,4890371,4890375,4890382,4890377,4890379,4890372 4312 BT020147,DC385245,M13509,M15996,X05231,X54925,NG_011740,NM_001145938,AJ002550,AP000619,AY769434,CH471065,M16567,U78045,AK024818,AK098450,AK130687,AK223034,AK223035,AK223036,AK223056,AK223281,AK225495,AK297723,AK301340,BC013118,BC013875,BT006874,NM_002421 AAV38949,AAA35699,AAA35700,CAA28858,CAA38691,P03956,Q53FK3,Q53G75,Q53G95,Q53G96,Q53G97,Q5TZP0,Q96DZ4,ABM81655,ABM84830,NP_002412,NP_001139410,AAV28732,EAW67031,AAA52033,AAB36941,BAD96754,BAD96755,BAD96756,BAD96776,BAD97001,BAG60077,BAG62888,AAH13118,AAH13875,AAP35520 Hs.83169 CLG|CLGN fibroblast collagenase|interstitial collagenase|matrix metalloprotease 1|matrix metalloproteinase 1 (interstitial collagenase) protein-coding 1347586 MMP10 matrix metallopeptidase 10 (stromelysin 2) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans and fibronectin. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq] 1580863 20584750,19317417,19489686,19601983,19695094,19762781,19921252,19935709,20452482,20453000,20484597,9373149,9042108,8921407,8631328,8349617,8144618,8125298,8003069,7694569,7632822,2605216,2369069,1874716,20432469,2844164,18617643,18427549,18035073,17695449,17543340,17009259,16580524,16516860,16331256,16054593,15944607,15489334,15375490,15371548,15288123,15095982,12477932,10986281,10472874,10419448,9662124,9578462,9427548,9261109,19913121,20587546,20628086,20673868 4319 NM_002425,AP000619,AY744675,CH471065,M30461,AK222601,AK313960,BC002591,BT007442,X07820 NP_002416,AAU21039,EAW67029,AAO65617,BAD96321,BAG36676,AAH02591,AAP36110,CAA30679,P09238,ABM82857,ABM86044 Hs.2258 SL-2|STMY2 MMP-10|matrix metalloprotease 10|matrix metalloproteinase 10 (stromelysin 2)|matrix metalloproteinase-10|stromelysin 2|stromelysin-2|transin 2|transin-2 protein-coding 735298 MMP11 matrix metallopeptidase 11 (stromelysin 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq] 1580863 15231748,19509157,19914229,20060156,20160732,20230842,20452482,17181997,7746327,1701851,19212658,19159011,18622425,18208802,18172255,17980449,17543340,17233884,17085465,16303743,15989693,15788677,15582574,15509588,15489334,15459498,12845673,12538453,12477932,12429794,12006591,11857311,11280785,10419448,7657606,7523394,1639418,19913121,20587546,20628086,20673868,21048031 4320 NM_005940,AP000349,AY899208,CH471095,X84664,AK075448,AK125911,AK129792,BC057788,CR602252,CR612686,CR624369,CR626443,DQ399599,X57766 NP_005931,AAW65373,EAW59603,EAW59604,CAA59150,BAG52140,AAH57788,ABD92798,CAA40918,P24347,Q71RC1 Hs.143751 SL-3|ST3|STMY3 MMP-11|OTTHUMP00000198424|matrix metalloproteinase 11|matrix metalloproteinase 11 (stromelysin 3)|matrix metalloproteinase-11|stromelysin 3|stromelysin III|stromelysin-3 protein-coding 1350336 MMP12 matrix metallopeptidase 12 (macrophage elastase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq] 1582352,1582363,1582365,1582355,1582356,1582358,1582366,1582361,1582354,1582351,1580863 15489334,8226919,19420105,19321798,19293200,19258954,19159011,19132754,19056482,18823978,18775985,18660381,18619044,18539597,18425585,18403602,18390828,18334288,18324629,18308831,18259971,18155181,18091353,18052707,18006768,18001704,18001475,17997411,17727250,17706587,17607721,17574772,17473191,17373931,17300109,17182940,17178873,17178858,17000679,16912171,16676616,16481329,16359550,16311244,16166618,16082623,15989693,15987457,15983040,15944607,15802269,15781250,15723202,15709175,15654955,15474460,12858542,12742660,12477932,12195704,12103254,11875051,11575929,11575928,11546917,11241738,10949161,10930399,10859319,10801980,10737800,10419448,10187779,9115292,8921407,7782320,11053263,18396640,19562509,19578796,19590686,19628284,19643940,19664242,19731200,19789190,19794969,19932771,19958990,20018959,20078883,20230842,20376807,20392358,20452482,20484597,20546881,20160424,20655856,19913121,20485444,20587546,20628086,20673868,20127415,20736794,20827277,21048031 1582352,1582363,1582365,1582355,1582356,1582358,1582366,1582361,1582354,1582351 4321 AK313959,NM_002426,AP000789,AY856072,CH471065,U25346,U78045,AI343504,AW172994,BC112301,BC143773,BE440047,BE813419,CR594246,CR603756,L23808,AI352562 NP_002417,AAW29944,EAW67033,AAB06314,AAB36943,BAG36675,AAI12302,AAI43774,AAA58658,P39900,Q13165,Q99745,ADR83017 Hs.1695,Hs.709832 HME|MGC138506|MME ME|MMP-12|macrophage elastase|macrophage metalloelastase|matrix metalloproteinase 12 (macrophage elastase)|matrix metalloproteinase-12 protein-coding 1343267 MMP13 matrix metallopeptidase 13 (collagenase 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq] 2306074,2306082,2306083,2293604,2293606,2306075,2306080,2306081,2293609,2293603,2293612,1580157,1582556,1582549,1582551,1582554,1582576,1582544,1582545,1582548,1580863 20506238,20683000,8609233,8207000,19494318,19301259,19258954,19248116,19248107,19248099,19180518,19124506,19094243,19038372,18987329,18985055,18971037,18755271,18753468,18709334,18593949,18528653,18487224,18373849,18366705,18308831,18289383,18289056,18262231,18225566,18091353,18006768,17905570,17876296,17853491,17822788,17786186,17724016,17697361,17626252,17623656,17607721,17495113,17395008,17373931,17373717,17311929,17300926,17208315,17196980,17151781,17138534,17116693,17076612,17033924,17009260,16984617,16948116,16917496,16877349,16648633,16507124,16398406,16356191,16331612,16144844,16024014,15947272,15944607,15763932,15693018,15654517,15640153,15551360,15489334,15067375,14558091,12974393,12878172,12814616,12734180,12477932,12426321,12392760,12270924,12192005,12149192,12139441,12009332,11903048,11883937,11108860,11032846,10986281,10949161,10947989,10930399,10788434,10514495,10419448,10074939,9562863,9373149,9119388,9065415,8969305,8663255,8125298,7607691,12009331,20463008,20685652,20615395,19185056,19296842,19333684,19415460,19422937,19442604,19453573,19551542,19561643,19562509,19564415,19615667,19779140,19784544,19787229,19821768,19883500,19902888,19948051,20043086,20067416,20097749,20131257,20175118,20376807,20452482,20484597,19913121,20485444,20573369,20587546,20628086,20634891,20672350,20673868,20706991,20878060,20667128,20827277,20948207,21048031 2306074,2306082,2306083,2293604,2293606,2306075,2306080,2306081,2293609,2293603,2293612,1580157,1582556,1582549,1582551,1582554,1582576,1582544,1582545,1582548 4322 NM_002427,AP000789,AP001486,AY741163,CH471065,X81640,AK222748,AK292211,AK315341,AY256443,AY256444,BC067522,BC067523,BC074807,BC074808,X75308,X81334,CA413743,NG_021404 NP_002418,AAU13907,EAW67034,EAW67035,CAA57296,BAD96468,BAF84900,BAG37740,AAP78939,AAP78940,AAH67522,AAH67523,AAH74807,AAH74808,CAA53056,CAA57108,P45452,Q53H33,Q6LBE5,Q6NWN6,Q7Z5M0,Q7Z5M1,ADR82764 Hs.2936 CLG3|MANDP1 MMP-13|collagenase 3|matrix metalloproteinase 13 (collagenase 3) protein-coding 734118 MMP14 matrix metallopeptidase 14 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq] 2314954,2314955,2314951,2314950,1582586,1582578,1582583,1582581,1582351,1582577,1582590,1582579,1582568,1582569,1582575,1582563,1582576,1582580,1582584,1582570,1582588,1580863 20579139,20233321,20586027,17067460,19136391,19339693,19406172,19409422,19458085,19487339,19509114,19523958,19551841,19571574,19577357,19586554,19610062,19654316,19667067,19753302,19780834,19820359,19887621,19901267,19934222,19961596,20050683,20056911,20110530,20198326,20452482,20453000,20483788,20484597,8015608,14718544,19330734,19286653,19272160,19248098,19243022,19232058,19211836,19208838,19197139,19147814,19123976,19074885,19047908,19023892,19020757,19010933,19006025,18955496,18927121,18829229,18802920,18784838,18663148,18661187,18655030,18617643,18602101,18571410,18566294,18541723,18519667,18495869,18454303,18441011,18428024,18423448,18413312,18368597,18354229,18329693,18307173,18267120,18227728,18223680,18206415,18196535,18174174,18164686,18045645,17991754,17962943,17943163,17938169,17928399,17886098,17670887,17669621,17668281,17650075,17640303,17618273,17591781,17525276,17475671,17425593,17332756,17329256,17283058,17219425,17189319,17175151,17153464,17140440,17099140,17081065,17050733,17050542,16983145,16971509,16956391,16877349,16776850,16686598,16636666,16627478,16551853,16551362,16525718,16525713,16473349,16461815,16425263,16419154,16281052,16234249,16219679,16140936,16077081,15967115,15911696,15901740,15882863,15878869,15841326,15831939,15756447,15743799,15665118,15632106,15558018,15554353,15528467,15525652,15516694,15489334,15466865,15466200,15450852,15381707,15381670,15351710,15350133,15276180,15260832,15247230,14729679,14707454,14673954,14670950,14645246,14597417,14583471,12904296,12879005,12869573,12810672,12727228,12672023,12661033,12587534,12488433,12477932,12473650,12464176,12427871,12393408,12372458,12220632,12194986,12185585,12169394,12149192,12145196,12115722,12054629,12004057,11970960,11928813,11920503,11917104,11911461,11854269,11844598,11839588,11809713,11779859,11773076,11751414,11741954,11448964,11382769,11178970,10949161,10947989,10930399,10922468,10721699,10529239,19855192,20589835,20605790,20666777,21048031,20215637,10419448,9724659,9688535,9461298,9422789,9119382,8804434,8706726,8663332,8663255,8530054,8216228,7998967,7721107,7708715,7649159,20946474,20608975,20660624,19709349,20471961,19913121,20471446,20529824,20587546,20599698,20628086,20628624,20634891,20673868,20721961 2314954,2314955,2314951,2314950,1582586,1582578,1582583,1582581,1582351,1582577,1582590,1582579,1582568,1582569,1582575,1582563,1582576,1582580,1582584,1582570,1582588 4323 AB011056,AF158733,AL135998,AY795074,CH471078,AK291325,AK312657,BC039581,BC064803,D26512,U41078,X83535,X90925,Z48481,NM_004995 NP_004986,BAC53889,AAF24178,AAV40837,EAW66236,EAW66237,BAF84014,BAG35540,AAH64803,BAA05519,AAA83770,CAA58519,CAA62432,CAA88372,P50281,Q8IXG1,Q9UHK5 Hs.2399 MMP-X1|MT1-MMP|MTMMP1 MMP-14|MT-MMP 1|MT1MMP|matrix metalloproteinase 14 (membrane-inserted)|matrix metalloproteinase 14, membrane-inserted|matrix metalloproteinase-14|membrane type 1 metalloprotease|membrane-type matrix metalloproteinase 1|membrane-type-1 matrix metalloproteinase protein-coding 1318995 MMP15 matrix metallopeptidase 15 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. [provided by RefSeq] 2290417,2314949,2314952,2314950,1580863 20586027,7559440,7649159,15248212,17029196,16983145,16825197,15489334,14645246,12661033,12477932,11824946,10949161,10419448,9461298,9119382,9070935,20117087,20452482,19913121,20587546,20628086,20673868,21036765 2290417,2314949,2314952,2314950 4324 BC006412,NM_002428,AC012182,CH471092,EF032329,AW161057,BC036495,BC055428,BF507560,BT006715,CR596713,CR625537,D85510,D86331,Z48482 NP_002419,EAW82965,EAW82966,ABJ53423,AAH36495,AAH55428,AAP35361,BAA22225,BAA13071,CAA88373,P51511,Q7KZY0 Hs.80343 MT2-MMP|MTMMP2|SMCP-2 MMP-15|MT-MMP 2|MT2MMP|matrix metalloproteinase 15 (membrane-inserted)|matrix metalloproteinase-15|membrane-type matrix metalloproteinase 2|membrane-type-2 matrix metalloproteinase protein-coding 735917 MMP16 matrix metallopeptidase 16 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene produces at least two transcripts, one which encodes a membrane-bound form and another a soluble form of the protein. Both forms of the protein activate MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq] 19265686,20207250,20452482,7559440,19240061,18784838,17419254,17217338,16983145,16344560,15489334,15044209,14741217,14645246,12879005,12661033,12477932,11278606,11230166,10949161,10419448,9396633,9119382,9110174,9092507,9070935,8619474,15380516,19913121,20587546,20628086,20673868,21048031 4325 NM_005941,NM_022564,AC037450,AC090575,AC090797,AC090980,CH471060,DQ003082,AB009303,AK314274,AL136588,AL832595,BC069500,BC075004,BC075005,D83646,D83647,D85511,DA575789,DR002176,U79292 NP_005932,NP_072086,EAW91651,EAW91652,AAX84515,BAA23742,BAG36934,CAB66523,AAH69500,AAH75004,AAH75005,BAA12022,BAA12023,BAA22226,P51512 Hs.492187,Hs.546267 C8orf57|DKFZp761D112|MMP-X2|MT-MMP2|MT-MMP3|MT3-MMP MMP-16|MT-MMP 3|MT3MMP|MTMMP3|Putative transmembrane protein C8orf57|matrix metalloproteinase 16|matrix metalloproteinase-16|membrane-type matrix metalloproteinase 3|membrane-type-3 matrix metalloproteinase protein-coding 1323053 MMP17 matrix metallopeptidase 17 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene is considered a member of the membrane-type MMP (MT-MMP) subfamily. However, this protein is unique among the MT-MMP's in that it is a GPI-anchored protein rather than a transmembrane protein. The protein activates MMP-2 by cleavage. [provided by RefSeq] 1580863 8640782,16686598,14701864,14645246,12962706,12661033,12477932,10949161,10799478,10640822,10567400,10551873,10543448,10471807,10419448,9878265,20019845,20452482,20587546,20673868 4326 NM_016155,AC131009,CH471054,AB021225,BC040507,BC045610,BX389435,CA489162,X89576 NP_057239,EAW98528,BAA82707,AAH40507,AAH45610,CAA61753,Q5U5M0,Q8IWC3,Q9ULZ9 Hs.709245 MT4-MMP MMP-17|MT-MMP 4|MT4MMP|MTMMP4|matrix metalloproteinase 17 (membrane-inserted)|matrix metalloproteinase-17|membrane-type matrix metalloproteinase 4|membrane-type-4 matrix metalloproteinase protein-coding 1322803 MMP19 matrix metallopeptidase 19 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This protein is expressed in human epidermis and it has a role in cellular proliferation as well as migration and adhesion to type I collagen. Multiple transcript variants encoding distict isoforms have been identified for this gene. [provided by RefSeq] 1642023,1642025,1642022 20098411,20142769,20452482,15239678,9688535,9020145,10809722,18161657,17980449,17195013,15868410,15489334,12937269,12516088,12477932,12054629,11801661,10949161,10922468,10903435,10419448,10415718,9562866,9373149,9232430,8920941,8216228,8125298,7998967,17207965,19913121,20628086,20673868 1642023,1642025,1642022 4327 NM_002429,AC023055,AY706993,CH471054,U89651,AK225939,AK297999,AK303202,AL545199,BC030206,BC050368,BI761698,CR620332,U37791,U38320,U38321,U38322,U38431,X92521,Y08622 NP_002420,AAT97983,EAW96844,EAW96845,BAG60305,BAG64292,AAH50368,AAC51521,AAB63007,AAB63008,AAB63009,AAC99995,CAA63299,CAA69913,O15277,Q99542,ADQ33096 Hs.591033 MMP18|RASI-1 MMP-18|MMP-19|matrix metalloproteinase 18|matrix metalloproteinase 19|matrix metalloproteinase RASI|matrix metalloproteinase-18|matrix metalloproteinase-19 protein-coding 730821 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades type IV collagen, the major structural component of basement membranes. The enzyme plays a role in endometrial menstrual breakdown, regulation of vascularization and the inflammatory response. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1601416,1642040,2290395,2290349,1302825,2290351,2290352,2290362,2290399,2290401,2290392,2290466,2290359,2290360,2298519,2290363,2290358,2290402,2290467,1582576,1582586,1582614,1582621,1581215,1582563,1582580,1582624,1582578,1582583,1582562,1582579,1582582,1582590,1582630,1582626,1582646,1582570,1582577,1582612,1582568,1582575,1582585,1582574,1582587,1582608,1302333,1582617,1582352,1582627,1580863,2325698,2325703,2325713,2325769,2324667,2325695,2325718,2325734,2325746,2325749,2325752,2325766,2325939,2325738,2325743,2325777,2325732,2325775,2325790,2325823,2325736 20514437,20514447,20586027,15949313,20482566,20233617,15885317,15878967,15866216,15841469,15831360,15820246,15756447,15754118,15743799,15731163,15691365,15672417,15665394,15665288,15651999,15637056,15632190,15621117,15616792,15609323,15609318,15609121,15604254,15569994,15567754,15557756,15541021,15522165,15492291,15489334,15489233,15485653,15475447,15449075,15381707,15375490,15351863,15317818,15317806,15280448,15280384,15277330,15271946,15265790,15255544,15254682,15250832,15248826,15248212,15241180,15201662,15165255,15102849,15067014,15056834,15051038,15015767,15009703,15004438,14996438,14990972,14990702,14983226,14981939,14973177,14871985,14766248,14744781,14732714,14713104,14710472,14697951,14694003,14679018,14666611,14661256,14644777,14644155,14614057,14604886,14583471,14580155,14520690,14519487,14500349,12970724,12970394,12967855,12952836,12939660,12914776,12880418,12879005,12878157,12873995,12861074,11134507,11114309,10991943,10986281,10947989,10900205,10652271,10652000,10551873,10419448,10356396,10196161,9933646,9853262,9737711,9640131,9438380,9344465,9343394,9182583,9119036,8862926,8692946,8663332,8663297,8549817,7947821,7935812,20305284,20138860,20381119,19709349,20333791,20887714,19875755,20432471,20091096,20195229,17175151,11168762,7782289,2834383,15146192,18492766,18029348,19643940,19562509,19527514,19525975,19515587,19507256,19459623,19449375,19445018,19438747,19426551,19391484,19386107,19360430,19358835,19338750,19337556,19332048,19331801,19330734,19324884,19303106,19295411,19288452,19287959,19286653,19281093,19266599,19248107,19243899,19241124,19221481,19212830,19196101,19189315,19176371,19165813,19159011,19141395,19132754,19124506,19122458,19121849,19117773,19116140,19109975,19105397,19101987,19100442,19094228,19088110,19022775,19020757,19019335,19007982,18974156,18971427,18971037,18946196,18940384,18852494,18835646,18291374,18288718,18288638,18283635,18265895,18256065,18253117,18251742,18236174,18220784,18217401,18214299,18210196,18208802,18205826,18194849,18187184,18185989,18182154,18177649,18177474,18172354,18166633,18160708,18155181,18093986,18091353,18088350,18081721,18070420,18063683,18052707,18049448,18045645,18042068,18038907,18035727,18035073,18031543,18025061,18000234,17986062,17981679,17972522,17962725,17958893,17950725,17949555,17943549,17923814,17908800,17901377,17893430,17893005,17886098,17879021,17876296,17851253,17845054,17786346,17725804,17718386,17706812,17699594,17680282,17671679,17666398,17661346,17660250,17653824,17650671,17640671,17638886,17624726,17624083,17623663,17616173,17613170,17611666,17607721,17589947,17570740,17564313,17563705,17559909,17546628,17545513,17541305,17540340,17516913,17493602,17493172,17488654,17487426,17486447,17473191,17448043,17437609,17435175,17429393,17409012,17384031,17383306,17377415,17374529,17367869,17364896,17363400,17350093,17335808,17326127,17320450,17314270,17299841,17299802,17289174,17265493,17258390,17243139,17237723,17236757,17226791,17217338,17208328,17205957,17203468,17203213,17189319,17188706,17182940,17181997,17178858,17177839,18829229,18829111,18818748,18814268,18805052,18802702,18802398,18784838,18773430,18757369,18714566,18712166,18711060,18707587,18701818,18692810,18670324,18665467,18664479,18663625,18653973,18652765,18651826,18644862,18644390,18636124,18627313,18618693,18611410,18597705,18593949,18580857,18579756,18575776,18560213,18552985,18543216,18506186,18498066,18496568,18483282,18477480,18473733,18472160,18469019,18468407,18462748,18455130,18444803,18438431,18431027,18425389,18424416,18400453,18398039,18378414,18366007,18359774,18340378,18337444,18332634,18332090,18330957,18329693,18314110,18308831,18298353,18295959,18292932,18292822,17151781,17109104,17099140,17089188,17088321,17088079,17081126,17071711,17070879,17065436,17033924,17029196,17012225,17008230,17000679,16987162,16967187,16961137,16940985,16919028,16897078,16894529,16891619,16888681,16884384,16840178,16829143,16803520,16778129,16776850,16772717,16755991,16739355,16728425,16722933,16718824,16718267,16647062,16615109,16585124,16575904,16551362,16510149,16476613,16458924,16456793,16453304,16438723,16425263,16424893,16414983,16413616,16407830,16379022,16364202,16361361,16359987,16356191,16344560,16341461,16339461,16338908,16313894,16308106,16306050,16275157,16260653,16213873,16188574,16168111,16158251,16146757,16142692,16142392,16097959,16083752,16082623,16042227,16023011,16023005,16018746,16005367,15998788,15998676,15983226,15955449,15955448,15955221,15944607,15929171,15911696,15904490,12845641,12832446,12810672,12764090,12753080,12684625,12676736,12657623,12651627,12642591,12632084,12632066,12615834,12614934,12602913,12601782,12589095,12587534,12586836,12569569,12559990,12522578,12486137,12479097,12477932,12475252,12473650,12471459,12470034,12451991,12439941,12438229,12431239,12393872,12393408,12376362,12374789,12372458,12371906,12235151,12225805,12198653,12194986,12193399,12149192,12147339,12147229,12122099,12115722,12103254,12087091,12085233,12077518,12039803,12034345,12032297,12029498,12023034,12007723,11961384,11956628,11948127,11935310,11929863,11928813,11928808,11920503,11918086,11895494,11889208,11854622,11844598,11839588,11833938,11824472,11792711,11790786,11782389,11762702,11756567,11748988,11728453,11598182,11571304,11485914,11431697,11420387,11382769,11368514,11220743,11179305,7694569,7683678,7583664,7523391,2162831,2158484,2071140,1851724,1846313,1460022,9699154,14982725,16134528,17067460,17593815,17706116,18069632,18426670,18641922,18713744,18782525,18937938,19088827,19188819,19191857,19199380,19223381,19249761,19274436,19345347,19395678,19448672,19454611,19460733,19464975,19465902,19466389,19469865,19477063,19523650,19523958,19528914,19529860,19546837,19551542,19551856,19560452,19574670,19575173,19577357,19578796,19580633,19581306,19610062,19615732,19617223,19617714,19625121,19637058,19653001,19671357,19682073,19687355,19698156,19700865,19716817,19723042,19723139,19724860,19724922,19780834,19786072,19787626,19789190,19814619,19816602,19820359,19861308,19874467,19875168,19885578,19887570,19889076,19901964,19903768,19903858,19930715,19939245,19954064,19956847,19995435,19997654,20003765,20031158,20064641,20071690,20082877,20100617,20110530,20113256,20129576,20145123,20160036,20175118,20216978,20222942,20346360,20353950,20360147,20364697,20375027,20382120,20394501,20416077,20435584,20452482,20453000,20484597,7998967,9148753,19853299,20133364,20207476,20541540,20230421,20600798,20652762,19913121,20485444,20514432,20529817,20565774,20576603,20587546,20590473,20616161,20616708,20625418,20625691,20628086,20628624,20634891,20646600,20672350,20673868,20730428,20808730,20453486,20725135,20811691,20937816,20970160,19995403,20372784,20855151,20140262,20845079,20948207,21048031 1601416,1642040,2290395,2290349,1302825,2290351,2290352,2290362,2290399,2290401,2290392,2290466,2290359,2290360,2298519,2290363,2290358,2290402,2290467,1582576,1582586,1582621,1581215,1582563,1582580,1582624,1582578,1582583,1582562,1582579,1582582,1582590,1582630,1582626,1582646,1582570,1582577,1582612,1582568,1582575,1582585,1582574,1582587,1582608,1302333,1582617,1582352,1582627,2325698,2325703,2325713,2325769,2324667,2325695,2325718,2325746,2325749,2325752,2325766,2325939,2325738,2325743,2325777,2325732,2325775,2325790,2325823,2325736 4313 NM_004530,NM_001127891,NG_008989,AC007336,AJ298926,AY738117,CH471092,M33789,M55582,M55583,M55584,M55585,M55586,M55587,M55588,M55589,M55590,M55591,M55592,M55593,M58552,U96098,AK301536,AK310314,AK312711,AL046162,AL542407,AL832088,AU279927,BC002576,BQ004983,CA446916,CR598192,CR608838,CR609745,DA993141,DB059054,DB154582,DQ385623,J03210,X58968,FB571114,FB668245 NP_004521,NP_001121363,AAU10089,EAW82824,EAW82825,EAW82826,EAW82827,EAW82828,AAA52027,AAA52028,BAG63035,BAG35588,AAH02576,ABD38929,AAA35701,P08253,Q2EF79,ABM82878,ABM86064,CAR95108,CAS92766 Hs.513617 CLG4|CLG4A|MMP-II|MONA|TBE-1 72 kDa gelatinase|72 kDa type IV collagenase|MMP-2|collagenase type IV-A|gelatinase A|matrix metalloproteinase 2 (gelatinase a, 72kda gelatinase, 72kda type iv collagenase)|matrix metalloproteinase-2|matrix metalloproteinase-II|neutrophil gelatinase protein-coding 1318675 MMP20 matrix metallopeptidase 20 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and so the protein is thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes that localizes to chromosome 11q22.3. [provided by RefSeq] 1580863 9398237,18434575,18714142,17611094,15744043,15296943,11706946,10949161,10922468,10634581,10419448,8921407,19913121,20628086,19834535,19966041,20379614,20484597 9313 NM_004771,NG_012151,AP000851,AY673603,CH471065,AJ296177,Y12779 NP_004762,AAT70722,EAW67024,CAC14668,CAA73317,O60882,AAI52742 Hs.591946 AI2A2|MMP-20 enamel metalloproteinase|matrix metalloproteinase 20 (enamelysin)|matrix metalloproteinase-20 protein-coding 1319622 MMP21 matrix metallopeptidase 21 This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling,and disease processes, such as asthma and metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq] 1580863 18768525,18633436,17873896,16984259,16641547,15015597,14691307,12617721,12490321,11994741,19601983,19921252 118856 NM_147191,AL158835,AL360176,AY121358,AY885252,CH471066,AF331526,AF520613 NP_671724,CAH73211,CAI12086,AAM78033,AAW62254,EAW49230,AAM92903,AAM75352,Q8N119,AAI56369,AAI72493 Hs.314141 MMP-21|matrix metalloproteinase 21|matrix metalloproteinase-21 protein-coding 1602337 MMP23A matrix metallopeptidase 23A (pseudogene) This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the duplicated region. [provided by RefSeq] 19965868,15483646,11328856,10949161,10419448,9988691,9750192,9740677 8511 NR_002946,AL031282,AF057061,AF057062,AF086353,CR608527 AAC62617,AAC62618 Hs.671760 MIFR|MIFR-1|MMP21 pseudo 1344169 MMP23B matrix metallopeptidase 23B This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq] 1580863 12477932,11328856,10949161,10419448,9750192,9988691,9740677,16710414,15489334,15483646 8510 NM_006983,AB031068,AF055334,AL691432,AB010961,AB010962,AF056200,AJ005256,AK297700,BC025719 NP_008914,BAA92769,AAC63527,AAC63528,AAC63529,BAA24833,BAA24834,AAC62616,CAB38176,BAG60058,AAH25719,O75086,O75900 Hs.192316 MIFR|MIFR-1|MMP22|MMP23A MMP-21|MMP-22|MMP-23|OTTHUMP00000220711|femalysin|matrix metalloproteinase 22|matrix metalloproteinase 23B|matrix metalloproteinase 23b|matrix metalloproteinase in the female reproductive tract|matrix metalloproteinase-21|matrix metalloproteinase-22|matrix metalloproteinase-23 protein-coding 732592 MMP24 matrix metallopeptidase 24 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 by cleavage. The gene has previously been referred to as MMP25 but has been renamed MMP24. [provided by RefSeq] 1580863 19913121,20546612,20587546,20628086,10363975,18391951,18062926,17952761,14990567,12879005,12661033,12477932,11780052,11457723,10640822,10419448,18839057,19403421 10893 NM_006690,CH471077,AB021227,AF131284,BC047614,DQ300264,R60687,AL121753 NP_006681,EAW76222,BAA82967,AAD42962,AAH47614,ABC17785,Q2PW48,Q86VV6,Q9Y5R2,AAI72450,CAX12722 Hs.715494 MMP25|MT-MMP5|MT5-MMP MMP-24|MT-MMP 5|MT5MMP|MTMMP5|matrix metalloproteinase 24 (membrane-inserted)|matrix metalloproteinase-24|membrane-type 5 matrix metalloproteinase|membrane-type matrix metalloproteinase 5|membrane-type-5 matrix metalloproteinase protein-coding 1317990 MMP25 matrix metallopeptidase 25 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq] 1580863 19913121,20587546,20628086,20672350,10628838,10706098,12493773,18936094,17513868,15149845,14755462,14583471,12860995,12477932,11282999,11034316,10419448,9653642,8663332,11226436,19726693,19834535,20237496,20308072,20337648,20501611 64386 NM_022468,AC108134,AJ003147,CH471112,AB042328,AF145442,AF185270,AJ003144,AJ239053,AJ272137,BC111412,CB529891 NP_071913,CAA05902,EAW85413,EAW85415,BAB20584,AAF66697,AAG17007,CAA05900,CAB94713,CAC03490,O43923,Q9NPA2,AAI67800 Hs.654979 MMP-25|MMP20|MMP20A|MMPL1|MT-MMP 6|MT-MMP6|MT6-MMP|MT6MMP|MTMMP6 leukolysin|matrix metallopeptidase-like 1|matrix metalloproteinase 20|matrix metalloproteinase 25|matrix metalloproteinase-25|matrix metalloproteinase-like 1|membrane-type 6 matrix metalloproteinase|membrane-type matrix metalloproteinase 6|membrane-type-6 matrix metalloproteinase protein-coding 1347422 MMP26 matrix metallopeptidase 26 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein degrades type IV collagen, fibronectin, fibrinogen, casein, vitronectin, alpha 1-antitrypsin, alpha 2-macroglobulin, and insulin-like growth factor-binding protein 1, and activates MMP9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. [provided by RefSeq] 1580863 10824119,10419448,11841844,20491537,10987280,10801841,19336475,18765015,18210030,17873896,17176253,16984259,16940965,16809379,16641547,15816845,15625428,15601912,15574774,15489334,15350356,15333466,15273280,14744773,14532275,12969699,12586837,12477932,12119297,11931652,11889136,11389678,20628624,19448419,19674198,19921252,19956866,20074375,20230842 56547 NM_021801,AC018375,AF291665,CH471064,AF230354,AF248646,AF291664,AJ251531,BC101541,BC101543 NP_068573,AAG02470,EAW68817,AAF80180,AAF82359,AAG00603,CAC08821,AAI01542,AAI01544,Q9NRE1 Hs.204732 MGC126590|MGC126592 MMP-26|OTTHUMP00000069244|endometase|matrilysin 2|matrilysin-2|matrix metalloproteinase 26|matrix metalloproteinase-26 protein-coding 1315373 MMP27 matrix metallopeptidase 27 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq] 12975309,10419448,19913121,20628086,20484597 64066 AP000647,AF195192,NM_022122,AP000851,CH471065,AY358752,BX102293 NP_071405,EAW67026,AAG28453,AAQ89112,Q9H306,AAI40434 Hs.534479 MMP-27 matrix metalloprotease 27|matrix metalloproteinase 27|matrix metalloproteinase-27 protein-coding 1323102 MMP28 matrix metallopeptidase 28 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 11121398,11255011,19379669,18778487,15953044,15593191,15185874,14730609,14506071,12975309,12477932,12164918,11574168,16344560,19375502,19921252,20003223,20144149 79148 NM_024302,NM_001032278,AC006237,AC015849,AF336346,CH471147,AA813101,AF219624,AF315683,AF330002,AK122604,AY358987,BC002631,BC011774,CR590246,DA761282,DA768574 NP_077278,NP_001027449,EAW80128,EAW80129,AAK01480,AAG41981,AAK01706,BAG53618,AAQ89346,AAH02631,AAH11774,Q96F04,Q96PI0,Q9H239,AAL15619 Hs.380710 EPILYSIN|MM28|MMP-28|MMP25 matrix metalloproteinase 28|matrix metalloproteinase-28|matrix metalloproteinase-28; putative MMP28 gene product|putative MMP28 gene product protein-coding 1345848 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq] 1580550,1580551,1580553,2290426,1302825,1580863,2325859,2325862,2325860,2325955,2325962,2325935,2325775,2325929,2325934 20584750,11375993,12834347,19381070,19435861,19438845,19551141,19559392,19576586,19578796,19585142,19628284,19643940,19664242,19678938,19729601,19731200,19762026,19770597,19778329,19786072,19789190,19834535,19836620,19843588,19892918,19906289,19923455,19948975,19949639,20009418,20031604,20038976,20082876,20092902,20113256,20142115,20204402,20211321,20302034,20346360,20359947,20374310,20385826,20435584,20436380,20437586,20452482,20453000,20467172,20483790,20484597,20541269,9148753,10639284,20873121,19042922,16302209,16278009,16238676,16202315,16158251,16102106,16100452,16088212,16082623,16080875,15993717,15955221,15944607,15894268,15879464,15863497,15823277,15763339,15757531,15748780,15716694,15701845,15667946,15665388,15640153,15610507,15546966,15529384,15528217,15489334,15474069,15467919,15389640,15383690,15355616,15342709,15337261,15319302,15319295,15312099,15308783,15290728,15288468,15274394,15234427,15203551,15194213,15172469,15161710,15142265,15102660,15094779,15084374,15070833,15033492,15009479,14998290,14984923,14718574,14715248,14712311,13129650,12952836,12880418,12876636,12867428,12866026,12837283,12832381,12821236,12810672,12784383,12761889,12750310,12736398,12727228,12651627,12634064,12572877,12485468,12477941,3360803,18029348,19527514,19522160,19508478,19507256,19507017,19504098,19479237,19432148,19376102,19337798,19336475,19321798,19318431,19293200,19279308,19275880,19268777,19263529,19245826,19238444,19221176,19212832,19180518,19165649,19159011,19155066,19132754,19131662,19100060,19065524,12477932,12473595,12432557,12385578,12364729,12230559,12229968,12205736,12204805,12149192,12124858,12103254,12071839,12054629,12054564,12034715,12034345,12009331,11988625,11982752,11977998,11841844,11841344,11836255,11827795,11751414,11546917,11485914,11438501,11380116,11327577,11297453,11116068,10986281,10967118,10947989,10922468,10877850,10669564,19064570,19056482,19019896,19019335,19008710,19005290,18974705,18830194,18818748,18818437,18810583,18801353,18760468,18674955,18674944,18636124,18634015,18619594,18609140,18606478,18573993,18571835,18566588,18541955,18513389,18496696,18485900,18469698,18445105,18426080,18363112,18342317,18308831,18303200,18275497,18262287,18237197,18234553,18225577,18220784,18212480,18172013,18091353,18077489,18076359,18063811,18035073,18028894,18007247,18006768,17975717,17958893,17942123,17929133,17922906,17919326,17911432,17901377,17893005,17875574,17765638,17763953,17763214,17719307,17710450,17703334,17672933,17669621,17664256,17617837,17617834,17607721,17589947,17564313,17559909,17543900,17537400,17530713,17502998,17473191,17471097,17436000,17434489,17383306,17381556,17373931,17320799,17319946,17316907,17316652,17198194,17182940,17178858,17151781,17145822,17137622,17125518,17077200,17065356,17058024,17033924,17027562,17024375,17003494,17000887,17000679,16998253,16984617,16972994,16972255,16972019,16937230,16935611,16919028,16905683,16904077,16899023,16871440,16822591,16802342,16739355,16677108,16629857,16615041,16532917,16516860,16430740,16424284,16405530,16356191,16323393,16311244,10543949,10422833,10419448,9888835,9873489,9827994,9792098,9760240,9737711,9733482,9558113,9548733,9373149,9288970,9083493,8957070,8921407,8740360,8662692,8535233,8486377,8216228,8125298,7998967,7694569,7656014,7523391,3477804,3030290,2785989,2605216,2383557,11824472,15788677,15972662,19614693,20472558,19690958,20655856,20609072,19913121,20485444,20538124,20574775,20587546,20609440,20616161,20616708,20622166,20628086,20628624,20630073,20672350,20673868,20707923,20740392,20731042,20360864,20640910,17207965,20802378,20822909,20827277,20853681,20935575,20948207,20959880,21037509,21048031 1580550,1580551,1580553,2290426,1302825,2325859,2325862,2325860,2325955,2325962,2325935,2325775,2325929,2325934 4314 NG_012100,AF405705,AP000789,CH471065,J04732,M30460,U51914,U78045,AI628953,AK223283,AK223291,AK313310,BC069676,BC069716,BC074815,BC074869,NM_002422,BC105954,BC107490,BC107491,J03209,X05232 AAH74869,NP_002413,AAK95247,EAW67032,AAN86644,AAO65616,AAB36942,BAD97003,BAD97011,BAG36115,AAH69676,AAH69716,AAH74815,AAI05955,AAI07491,AAI07492,AAA36321,CAA28859,P08254,ADQ31916 Hs.375129 CHDS6|MGC126102|MGC126103|MGC126104|MMP-3|SL-1|STMY|STMY1|STR1 matrix metalloproteinase 3 (stromelysin 1, progelatinase)|matrix metalloproteinase-3|proteoglycanase|stromelysin-1|transin-1 protein-coding 736005 MMP7 matrix metallopeptidase 7 (matrilysin, uterine) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq] 1302333,2298522,1582393,1582373,1582385,1582397,1582388,1582381,1580863 20139113,20584750,20180812,20192597,20826916,20827277,21048031,20680712,8125298,1497627,19420105,19329997,19317620,19303106,19266094,19231585,19221016,19181662,18006768,17728005,17695544,17672933,17671679,17607721,17564313,17554258,17507989,17502620,17487834,17396032,17373931,17310281,17219436,17209789,17153464,17145868,17145820,17129995,17125518,17114341,17038551,17029196,17009258,17009118,16956593,16940985,16804904,16494848,16476739,16474379,16474169,16455621,16405530,16356191,16286510,16278009,16142384,16115946,16097959,15979995,15930031,15894268,15866216,15860507,15809719,15800927,15725655,15696117,15652345,15618645,15523695,15489334,15375490,15342556,15239678,15149334,15102692,15040016,14744783,14516315,12963695,12958188,12808021,12759346,12759241,12684625,12579270,12477932,12464266,12117418,12112311,12034400,12034345,12005165,11983918,11979071,11927011,11925859,11841844,11825873,11801551,11729324,11718469,11701474,11375993,11326276,11323016,11320086,11247893,11220743,10986281,10859319,10504457,10419448,9888422,9737711,9548733,9373149,9360944,9349239,9344615,9148753,8978768,8921407,8786845,8294454,8216228,19173304,19132754,19121849,19094228,19022775,19020757,19016757,18974372,18958543,18955490,18931651,18823373,18805052,18798254,18768525,18721140,18715618,18713744,18695873,18674869,18653469,18648013,18644839,18636198,18600430,18548257,18511876,18500535,18485588,18448157,18447576,18422740,18411043,18385523,18364512,18340552,18329694,18308831,18214300,18202161,18179407,18036564,18023162,19000448,20375326,20156184,7980522,7896811,7756291,7694569,2844164,2550050,2253219,15543138,20939893,20491537,20605794,16200075,17718429,19360357,19421758,19435861,19465902,19505922,19586554,19596921,19608871,19634113,19643940,19654318,19676133,19679556,19682489,19690403,19701966,19724852,19730683,19785773,19787626,19789190,19834535,19929564,20007614,20040080,20096949,20113256,20230842,20300917,20347338,20360147,20452482,20484597,19690958,20587546,20605361,20624652,20628624,20662554,20673868,20707923,20730428,20872971,20372795,20736794 1302333,2298522,1582393,1582373,1582385,1582397,1582388,1582381 4316 NM_002423,AP001830,AY795972,CH471065,L22520,L22521,L22522,L22523,L22524,AI675414,AK222980,AK293359,AK309687,BC003635,BP332706,X07819,Z11887,GN341824 NP_002414,AAV40839,EAW67023,AAC37543,BAD96700,BAG56875,AAH03635,CAA30678,CAA77942,P09237,Q53GF1,ABM84058,ABW03571,CAY39331 Hs.2256 MMP-7|MPSL1|PUMP-1 matrilysin|matrin|matrix metalloproteinase 7|matrix metalloproteinase 7 (matrilysin, uterine)|matrix metalloproteinase-7|pump-1 protease|uterine matrilysin|uterine metalloproteinase protein-coding 1351878 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is stored in secondary granules within neutrophils and is activated by autolytic cleavage. Its function is degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq] 2306084,2298552,2306086,2298553,1582626,1582641,1580863 17584650,19460733,19674746,19708869,19745165,19751716,19834535,19880617,20042585,20371206,20442866,20452482,20484597,2164002,16192646,19527514,19442604,19358835,19330028,19180518,20184870,20708200,19159011,15187163,19124506,19094243,19074885,19064570,19019335,18980523,18818748,18768525,18700005,18626311,18428024,18366705,18278188,17974962,17932311,17728507,17567680,17473191,17418871,17178858,16940985,16928431,16877349,16872847,16432074,16259988,16242329,16134994,15888067,15661397,15489334,15367487,15042023,14550288,12477932,12149192,12117418,12101112,12054629,11731274,11400153,10986281,10949161,10922468,10859319,10419448,10353844,9737711,9688535,9655333,9578462,9558113,9249047,9042108,8921407,8639592,8631924,8397318,8307185,8216228,8137810,7998967,7656015,2176876,2169766,2169256,2159879,1662606,1646048,1330697,20356362,20621951,19913121,20485444,20587546,20628086,20673868,20453486,19995403,20626027,20140262,21048031 2306084,2298552,2306086,2298553,1582626,1582641 4317 NM_002424,NG_012101,AP000647,CH471065,DQ141306,AK292659,AK303388,AK303511,AK313374,BC074988,BC074989,BC144094,DW009698,J05556 NP_002415,EAW67027,AAZ38714,BAF85348,BAG64444,BAG64542,AAH74988,AAH74989,AAA88021,P22894 Hs.161839 CLG1|HNC|MMP-8|PMNL-CL PMNL collagenase|matrix metalloproteinase 8 (neutrophil collagenase)|matrix metalloproteinase-8|neutrophil collagenase protein-coding 1348437 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq] 1580554,1580575,1580576,1580577,1642035,1642039,1642040,1642041,1642046,1642051,1642053,1642054,1642055,1642026,1642027,1642028,1642029,1642030,1642031,1642033,2290395,1582532,2290436,1642042,1642043,1642047,2290351,2290358,2290399,2290352,2298523,2290354,2290343,1582628,1302333,1581215,1582620,1582630,1582631,1582647,1582656,1582611,1582642,1582644,1582616,1582618,1582637,1582655,1582626,1582645,1582646,1582648,1582612,1582653,1582352,1582623,1582640,1582641,1582617,1582615,1582639,1580863,1580550,2325953,2325844,2325790,2324667,2325775,2325778,2325825,2325830,2325854,2325855,2325823,2325849,2325732,2325734,2325738,2325749,2325766,2325935,2325856,2325736,2325777,2325792,2325831 20030715,20338991,20482566,20554312,16456793,16455621,16432074,16429190,16426593,16413616,16405530,16395864,16372907,16359987,16356191,16339461,16338908,16331612,16313894,16301860,16291395,16288746,16280123,16278009,16272296,16267613,16260653,16246065,16237750,16213873,16202218,16192641,16179285,16177394,16168399,16166639,16159601,16158251,16155381,16140265,16135959,16133529,16126934,16114056,16100452,16097959,16086239,16083752,16082623,16080811,16061858,16061852,16061701,16054858,16042227,16026590,16023005,16005367,15998676,15956726,15955221,15952124,15949868,15947272,15944607,15935515,15904490,15896974,15888067,15885317,15866216,15863510,15855236,15848174,15834245,15831558,15826319,15824527,15824107,15823277,15820246,15809093,15800029,15797648,15760679,15760647,15754388,15754326,15748780,15691353,15672417,15652414,15642145,15628723,15609318,15609121,15604254,15585220,15583828,15569994,15565457,15557756,15556929,15541021,15536155,15531921,15531749,15528190,15522165,15498369,15489334,15465610,15449075,15385524,15384859,15363818,15363817,15356679,15328199,15327032,15316122,15313474,15311942,15277439,15271946,15265790,15256791,15254682,15248826,15247301,15241180,15105396,15094060,15085249,15084374,15075244,15070833,15067014,15064242,15034761,15033492,15022328,15015767,15009705,14990702,14983226,14982353,14981939,14973177,14963289,14767860,14766231,14744773,14719079,14705229,14697951,14687896,14681642,14676438,14675172,14661256,14661062,14644158,14633819,14624478,14607966,14605329,14581136,14561155,14551878,14550924,14550288,14520690,14500349,12970724,12967855,12960961,12960156,12958623,12952836,12949792,12947332,12921631,12914776,12880418,12879005,12874388,12866035,12865405,12861851,12850503,15223247,15214991,15212936,15204835,15201662,15191941,15169910,15165255,15146197,15132991,15131051,15123665,15122332,15118287,12811828,12810681,12791318,12789238,12769333,12753719,12750540,12745093,12728308,12727228,12724312,12717827,12717622,12712078,12704537,12671895,12830465,12824186,12668489,12663332,12651627,12642591,12626459,12615834,12612199,12606037,12589095,12587534,12586837,12569569,12559990,12479099,12479097,12477932,12471459,12464265,12452001,12444074,12443715,12437116,12431981,12431239,12414663,12398893,12376362,12372334,19946014,20097566,20359813,20443834,20051814,20133364,20159608,20184870,20207476,19150151,19933377,20160424,20215707,20356362,20584616,20596661,20621951,20636397,20827608,19783786,20111696,20305574,20571492,16463672,17572998,20364320,20432471,20534121,20514437,20514473,20149706,20305284,19602039,20070483,20333791,20578262,20091096,20195229,20214668,20413683,20458747,20627731,20699364,20800577,19334035,17275949,16467043,16102725,15239215,12847101,12356580,11781819,2251898,2551898,16192646,17704059,19643940,19633731,19631393,19628284,19541004,19536654,19527514,19526105,19513513,19507256,19507017,19504098,19501047,19484688,19480010,19475568,19473053,19461556,19454280,19453261,19450561,19444758,19438845,19435423,19420105,19391484,19389382,19388358,19388348,19385051,19383343,19381161,19358835,19357773,19337556,19336370,18719998,18716555,18713744,18713734,18712166,18710428,18706098,18700005,18680431,18674955,18670324,18665441,18663625,18660489,18653544,18652766,18651887,18644862,18636124,18634035,18632241,18619594,18619044,18618693,18617520,18616513,18609045,18597705,18596065,18587729,18575776,18571010,18563800,18559505,18554596,18554282,18552985,18552608,18548114,18539681,18513509,18512818,18506186,18496568,18483307,18483282,18480385,18479418,18477480,18474748,18468407,18457660,18455130,18452312,18451255,18451168,18444803,18438343,18437914,18428024,18763261,18426080,18425389,18414048,18414015,18410405,18408070,18401426,18398039,18397859,18395263,18391843,18390930,18378414,18376229,18368597,18362300,18359769,18357389,18356846,18355442,18347934,18345028,18342317,18337444,18336852,18332090,18326820,18323498,18307173,18303200,18302674,18298353,18296264,18295959,18722610,18291374,18288638,18283635,18276934,18259971,18237197,18236174,18234959,18227728,18222174,18217401,18215420,18214300,18214299,18194849,18194466,18194081,18187184,18177875,18177474,18174366,18173548,18167127,18166633,18164995,18155181,18155162,18095095,18093986,18091353,18081721,18077379,18076359,18070596,18070420,18067861,18063832,18062964,18061419,18052707,18050191,18049028,18048771,18048360,18045645,18042068,18035073,18030366,18028894,18025061,18006877,18006768,18000233,17531242,17505560,17502998,17498910,17493602,17493236,17493172,17489740,17488482,17487763,17486447,17485071,17475671,17473191,17465457,17448220,17448043,17437609,17418871,17407789,17397984,17394006,17389601,17384080,17383306,17367869,17364896,17350093,17346338,17334233,17332331,17320799,17320450,17311292,17311279,17310847,17299841,17298441,17289174,17278189,18292822,17991734,17986062,17981679,17972522,17964826,17964292,17950725,17949555,17937912,17928006,17923814,17922642,17920311,17917789,17916907,17914564,17912241,17901377,17893005,17892998,17890452,17889183,17888724,17888430,17879021,17868665,17786346,17768685,17763331,17761425,17761309,17760717,17729419,17725804,17721627,17718386,17706812,17702963,17698228,17671679,17669467,17660250,17657740,17655938,17650671,17643435,17640671,17624726,17624083,17617834,17611666,17607721,17601679,17599818,17599356,17597813,17589947,17582780,17581988,17581602,17575075,17574455,17572495,17572184,17564313,17559909,17559070,17546628,17541305,17540340,19331801,19331685,19330734,19317840,19306108,19303106,19298660,19283512,19279308,19270179,19264454,19248107,19243899,19242924,19219072,19218340,19208844,19197071,19188843,19187648,19180518,19176371,19165813,19159011,19150882,19150878,19148494,19148478,19147749,19144335,19141401,19141395,19132754,19130490,19110045,19109975,19105397,19100442,19094228,19093256,19074885,19064570,19022565,19020757,19020728,19019525,19019335,19010864,19005290,18997840,18980523,18971037,18954444,18952609,18951331,18948614,18946196,18945772,18942717,18930181,18852494,18850474,18835982,18835646,18835540,18829111,18818748,18818437,18813792,18809380,18802702,18801483,18801463,18797400,18790699,18773430,17126384,17116693,17110919,17109104,17091328,17089188,17077200,17077165,17076610,17071711,17065436,17052690,17049831,17033924,17030690,17029196,17024375,17020973,17018612,17011110,17008230,16990429,16990034,16987162,16984917,16980554,16961137,16954500,16952784,16945027,16940985,16926552,16921111,16919028,16917093,16914095,16897078,16894529,16888026,16884727,16880228,16864898,16850107,16840734,16840178,16830792,16829143,16803520,16786122,16780738,16778129,16772717,16754484,16739355,16736997,16733654,16732316,16722933,16720051,16718267,16709939,16700817,16690896,16678588,16676616,16674956,16672230,16670311,16652230,16643654,16638593,16631427,16619037,16615109,16615041,16596205,16585124,16574900,16551853,16528670,16516857,16514055,16512877,16476613,16469801,17275003,17261792,17243139,17237723,17226791,17224907,17223007,17222798,17221318,17214970,17208328,17205957,17200207,17186550,17182940,17178858,17176047,17175378,17174275,17163537,17161406,17161405,17151782,17137715,17137622,17134708,12235151,12235127,12231534,12219015,12208863,12205736,12193399,12183836,12127674,12126625,12105194,12103254,12084167,12082592,12082590,12081477,12077439,12063180,12062817,12054499,12051944,12050187,12034345,12029498,12004062,11999552,11994547,11986939,11978564,11971760,11958288,11956628,11940298,11935310,11920505,11920503,11916008,11890521,11876767,11875051,11854622,11839746,11839588,11833938,11830485,11827968,11827795,11813159,11756567,11742492,11708786,11688724,11780052,11675412,11606713,11576356,11557670,11546917,11486009,11410119,11279011,11179305,11168762,11134254,11081634,11023497,10988146,10900205,10796887,10706134,10652271,10644727,10642956,10598806,10580107,10419448,10389762,10339412,9878537,9789069,9590175,9378998,9268487,8978762,8691515,8568270,8426746,8216228,8012988,7762981,7669817,2158484,1932376,1851724,1653238,1653055,1645657,1400481,1371271,1281792,15288392,11468147,10636480,12950257,7896811,9344465,19614693,20421725,10095777,10859319,15924675,16191301,17129456,17562263,17706116,17884772,18069634,18334147,18641922,18782525,18821062,18835014,18843978,18849127,18937938,19141347,19191857,19199380,19249761,19269113,19274436,19317417,19376817,19387352,19395987,19447587,19448396,19464975,19465902,19466389,19477063,19494703,19523650,19524176,19525292,19528914,19529860,19541314,19541433,19543729,19548069,19551542,19564415,19574670,19575173,19575331,19576586,19578796,19581416,19582779,19596921,19597352,19608737,19615667,19617223,19625121,19629003,19640333,19641039,19657395,19658178,19664242,19665460,19668117,19668239,19672558,19674198,19681038,19690403,19693769,19700239,19716817,19723042,19723139,19724058,19724860,19728856,19731200,19748093,19748669,19751716,19755933,19762163,19789190,19796534,19799610,19804834,19814619,19834535,19836620,19843640,19857655,19875168,19880617,19885578,19885589,19887608,19887890,19889076,19889214,19903304,19903858,19906411,19909726,19915485,19921474,19933216,19933990,19940022,19946898,19956847,19958602,19996286,20001295,20003765,20009356,20020446,20021931,20031158,20035078,20041335,20043135,20051489,20060752,20066900,20070253,20078883,20082877,20087345,20100617,20102205,20110172,20110530,20128385,20129576,20144500,20160036,20164037,20181264,20184534,20197064,20211160,20222942,20226090,20302034,20333651,20346360,20352300,20354277,20360147,20363273,20364697,20373132,20375027,20381197,20388776,20392358,20392988,20395963,20416216,20452482,20453000,20467172,20471697,20484597,20529372,20541269,7694569,9261109,9360944,9578462,20556397,20600798,20631454,20631638,20652762,20825973,17045024,18683786,18953959,19913121,19944559,20485444,20514432,20529817,20538124,20574775,20587546,20590473,20605480,20609440,20616161,20616708,20628086,20628624,20639647,20646600,20650312,20662554,20672350,20673868,20707923,20707992,20725776,20808730,20021816,20453486,20725135,20872564,20970160,19995403,20372784,20417130,20533294,20575100,20427044,20534943,20550708,20704821,20802378,20937775,20948207,21048031 1580554,1580575,1580576,1580577,1642035,1642039,1642040,1642041,1642046,1642051,1642053,1642054,1642055,1642026,1642027,1642028,1642029,1642030,1642031,1642033,2290395,1582532,2290436,1642042,1642043,1642047,2290351,2290358,2290399,2290352,2298523,2290354,2290343,1582628,1302333,1581215,1582620,1582630,1582631,1582647,1582656,1582611,1582642,1582644,1582616,1582618,1582637,1582655,1582626,1582645,1582646,1582648,1582612,1582653,1582352,1582623,1582640,1582641,1582617,1582615,1582639,1580550,2325953,2325844,2325790,2324667,2325775,2325778,2325825,2325830,2325854,2325855,2325823,2325849,2325732,2325738,2325749,2325766,2325935,2325856,2325736,2325777,2325792,2325831 4318 NM_004994,NG_011468,AF148064,AF538844,AL162458,AX011001,CH471077,D10051,DQ194553,M68351,M68355,AK298246,AK301446,AK302530,AK303080,AK313137,AK316145,AW468235,BC006093,CN288579,J05070 NP_004985,AAD37404,AAM97934,CAC10459,CAC07541,EAW75776,BAA20967,ABA03169,BAH12743,BAH13483,BAH13736,BAH13895,BAG35956,BAH14516,AAH06093,AAA51539,P14780,Q9Y354,ABM87790,ABW03866 Hs.297413 CLG4B|GELB|MANDP2|MMP-9 92 kDa gelatinase|92 kDa type IV collagenase|macrophage gelatinase|matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)|matrix metalloproteinase 9 (gelatinase b, 92kda gelatinase, 92kda type iv collagenase)|matrix metalloproteinase-9|type V collagenase protein-coding 1353163 MMPL1 matrix metalloproteinase-like 1 1580863 9653642 4328 O43923 NM_004142,AJ003144 1352887 MMRN1 multimerin 1 Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq] 1580863 9189649,8514871,19175495,19132231,18452976,16363244,16335952,16263699,15849733,15583744,15489334,15452129,12665801,12477932,10828608,9798985,9454761,9372017,8652809,7629143,21058943,19915575,20237496 22915 NM_007351,AC093759,CH471057,AK125557,AK302421,AK313566,BC063848,BM126740,U27109 NP_031377,AAY40957,EAX06037,EAX06038,BAC86201,BAH13704,BAG36340,AAH63848,AAC52065,Q13201,ADR82763 Hs.268107 ECM|EMILIN4|GPIa*|MMRN EMILIN-4|OTTHUMP00000161558|OTTHUMP00000219844|elastin microfibril interface located protein 4|elastin microfibril interfacer 4|endothelial cell multimerin|glycoprotein Ia*|multimerin-1 protein-coding 1322933 MMRN2 multimerin 2 1580863 14702039,8889548,16335952,15489334,12477932,12221002,11559704 79812 NM_024756,AC025268,CH471142,AK023527,AK293822,AK304727,AK308401,BC064415,BC072456,BC094744,BM673127,DC416005,W38498 NP_079032,EAW80319,BAB14599,BAG57226,BAG65490,AAH64415,AAH94744,Q9H8L6 Hs.524479 EMILIN-3|EMILIN3|EndoGlyx-1|FLJ13465 EMILIN-3|EMILIN-like protein EndoGlyx-1|elastin microfibril interface located protein 3|elastin microfibril interfacer 3|endoGlyx-1 p125/p140 subunit|multimerin-2 protein-coding 1354311 MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) 20797633,16385451,17148452,19615732,20522537,11279242,11071939,19318433,16797255,15489334,15164054,14702039,12477932,11328871,9373149,9110174,8619474,8125298,17353931 64210 AK298995,AK304287,AK314374,BC002692,BC006575,BC007298,BC009396,BC033101,BC080532,BC117129,BC143285,BU942293,CR615346,DC382324,DC382327,DC403135,DC410036,AK225312,NM_022362,AL355490,AL359388,AY974244,CH471066,AF007151,AF319947,AF357881,AJ306408,AK025496,AK027710,AK056244,AK056581 CAI14189,AAX59033,BAB71223,BAG61084,BAG65145,AAH02692,AAH06575,AAH09396,AAH80532,AAI17130,O43410,Q5T454,Q96T76,NP_071757,CAI40770,CAQ10797,CAQ10798,CAI14190,EAW49921,EAW49922,EAW49923,EAW49924,EAW49925,EAW49926,EAW49927,EAW49928,AAC19154,AAK52668,AAK70402,CAC29239,BAB55315,BAG51657 Hs.500721 FLJ34167|FLJ95146|MET18|MGC99604|MMS19L|hMMS19 MET18 homolog|MMS19 (MET18 S. cerevisiae)-like|MMS19 nucleotide excision repair protein homolog|MMS19-like (MET18 homolog, S. cerevisiae)|MMS19-like protein|OTTHUMP00000020211|homolog of yeast MMS19 protein-coding 1351083 MMVP2 myxomatous mitral valve prolapse 2 12707861 352956 1348081 MN1 meningioma (disrupted in balanced translocation) 1 Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq] 1580863,1600423,1600424,1624321 7731705,18029348,19451432,19240061,18632758,17698380,17525718,17494859,17242174,16105979,16081688,15890672,15461802,15302935,12569362,8786123,7731706,19391034,19561324,20072157 1600423,1600424,1624321 4330 NG_023258,NM_002430,AL031591,AL390210,CH471095,EF540994,X82209,Z70218 NP_002421,CAI20309,CAI17971,EAW59741,EAW59742,ABQ01232,CAA57693,CAA94179,Q10571,AAI52906,AAI56880,CAK54441,CAK54740 Hs.268515 MGCR|MGCR1|MGCR1-PEN|dJ353E16.2 OTTHUMP00000198845|bK437G10B.1 (meningioma (disrupted in balanced translocation) 1)|meningioma (translocation balanced)|meningioma chromosome region 1|probable tumor suppressor protein MN1 protein-coding 733503 MNAT1 menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) Cyclin-dependent kinases (CDKs), which play an essential role in cell cycle control of eukaryotic cells, are phosphorylated and thus activated by the CDK-activating kinase (CAK). CAK is a multisubunit protein that includes CDK7 (MIM 601955), cyclin H (CCNH; MIM 601953), and MAT1. MAT1 (for 'menage a trois-1') is involved in the assembly of the CAK complex.[supplied by OMIM] 1580863 17353931,11113200,16169070,11113176,11056214,11056162,10949034,10866664,10438593,10428966,10082552,10066804,10024882,9840937,9765201,9651670,9570510,9465303,9372954,9368058,9334327,9311822,9184228,9130708,9121429,9118947,9054383,8934526,8849451,8628270,8521393,8308015,11445587,8521818,9405375,10583946,8692841,8692842,8946909,18029348,1939271,2449431,7629134,7799941,9512541,9582279,9790902,10214908,11313499,12393749,12646563,16782892,17707548,17628022,16935935,15489334,15328539,15282296,15220921,14569024,12527756,12477932,12379213,12213824,12140753,10801852,17643375,19584075,20379614,20522537,9852112,17207965 4331 NM_002431,AL132777,AL160236,AY165512,CH471061,AA053721,AK308701,BC000820,BU620200,CR450336,CR601430,CR602764,CR603397,U61835,X87843,X92669,CD701743,NM_001177963 NP_002422,AAN47195,EAW80787,EAW80788,EAW80789,EAW80790,EAW80791,AAH00820,CAG29332,AAB05248,CAA61112,CAA63356,P51948,NP_001171434,ADQ32279 Hs.509523 CAP35|MAT1|RNF66|TFB3 CDK-activating kinase assembly factor MAT1|CDK7/cyclin-H assembly factor|RING finger protein 66|RING finger protein MAT1|cyclin G1 interacting protein|cyclin-G1-interacting protein|menage a trois 1 (CAK assembly factor) protein-coding 1604777 MND1 meiotic nuclear divisions 1 homolog (S. cerevisiae) The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM] 17639080,16407260,12477932,11940665,20379614,16341674 84057 NM_032117,AC013477,CH471056,AK312172,AY028916,BC032142,BM833450,BU533354 NP_115493,EAX04964,EAX04965,BAG35106,AAK26168,AAH32142,Q9BWT6,ABM82912,ABM86102 Hs.294088 GAJ OTTHUMP00000220334|homolog of yeast MND1|meiotic nuclear division protein 1 homolog protein-coding 1314505 MNDA myeloid cell nuclear differentiation antigen The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq] 1580863 19474799,1644857,16651415,16458891,15778972,15489334,12477932,18029348,12112016,9712147,8175894,7806273,7512843,7327575,1377701,14618084,17875758,20595294 4332 AL513205,CH471121,U30245,AK290392,AK313210,BC020715,BC032319,M81750,NM_002432 CAH73796,CAH73797,EAW52807,EAW52808,BAF83081,BAG36026,AAH20715,AAH32319,AAA69696,P41218,Q05CU9,Q5VUU5,Q5VUU6,NP_002423 Hs.153837 PYHIN3 myeloid cell nuclear differentiation antigen protein-coding 1343971 MNG1 multinodular goitre 1 9345104 4333 1342804 MNGIE myoneurogastrointestinal encephalopathy syndrome 8164833 4334 1605067 MNS1 meiosis-specific nuclear structural 1 This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq] 16189514,15942958,14702039,12477932,8032679,7625268 55329 NM_018365,AC068713,AC084782,CH471082,AK002084,AK057542,BC012554,BC031046,BC034991 NP_060835,EAW77501,EAW77502,BAA92077,BAG51932,AAH31046,AAH34991,Q8NEH6,ABW03743,ABW03602 Hs.444483 FLJ11222|FLJ26051 meiosis-specific nuclear structural protein 1 protein-coding 1318597 MNT MAX binding protein The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq] 1580863 9598315,9184233,19086036,18155722,17577784,16341674,15489334,15258910,15146197,12477932,11748221,11314024,11230181,10918583,9199935,17419941,18457265 4335 X96401,AC006435,CH471108,Y13440,Y13444,AF318360,AK291596,BC033186,BC117563,BM469815,BM820333,BM876168,BM876428,BQ675978,CA950091,CN428911,CN428913,CR598337,NM_020310,HC084232 NP_064706,EAW90541,EAW90542,EAW90543,CAA73851,AAL55867,BAF84285,AAI17564,CAA65265,Q8WYU0,Q99583,CBI12212 Hs.626579,Hs.632239 MAD6|MXD6|ROX|bHLHd3 Max-interacting protein|class D basic helix-loop-helix protein 3|max-binding protein MNT|myc antagonist MNT protein-coding 1344566 MNX1 motor neuron and pancreas homeobox 1 1580863 7914194,9843207,19212340,18940475,18449898,17612791,16646086,16498628,15998911,15839736,15790807,15772702,11940082,11528505,10749657,10631160,10329000,7550324,1712647,1677181,20146075,19853743,19446746 3110 AY927459,NM_005515,AC006357,AF107453,CH236954,CH471149,U07663,U07664,AF107457,AY927460,CR623223,X56537,AY927461,AY927462,AY927464,NG_013212,NM_001165255 NP_005506,AAD41467,EAX04564,AAB60647,CAA39882,P50219,Q9UDY3,AAI60126,NP_001158727 Hs.37035 HB9|HLXB9|HOXHB9|SCRA1 homeo box hb9|homeobox HB9|homeobox protein HB9|motor neuron and pancreas homeobox protein 1 protein-coding 1316298 MOAP1 modulator of apoptosis 1 The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq] 1580863 11076863,11060313,11256614,19100260,18474619,17535899,16713569,16381901,16344548,16189514,15949439,15489336,15489334,14702039,12477932 64112 NM_022151,AL110118,CH471061,AF305550,AK024029,AK315522,BC015044,BG475323,BG699993,BG704865,CR612994,CR622098 NP_071434,EAW81516,AAG31786,BAB14788,BAG37903,AAH15044,Q96BY2,CAL37854,ABM82103,ABM85285 Hs.24719 MAP-1|PNMA4 MAP1|modulator of apoptosis 1|paraneoplastic antigen Ma4|paraneoplastic antigen like 4 protein-coding 1312955 MOBKL1A MOB1, Mps One Binder kinase activator-like 1A (yeast) The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. [provided by RefSeq] 737633,1580863 15197186,15067004,15489334,14702039,12477932,8889548,19739119,20970119 737633 92597 NM_173468,AC021989,AC093851,AC108014,CH471057,AA417950,AJ577473,AK093545,AK299481,AK313513,AL162039,BC038112,BC044913,BF129919,BG033976,BG433921,BQ229138,CA311370 NP_775739,AAY40943,AAY41047,EAX05635,EAX05636,CAE12091,BAG52738,BAG61445,BAG36293,AAH38112,Q4W5E0,Q7L9L4 Hs.700445,Hs.726308 MATS2|MGC33910|MOB4A|Mob1B mob1 homolog 1A|mob1A|mps one binder kinase activator-like 1A protein-coding 1315956 MOBKL1B MOB1, Mps One Binder kinase activator-like 1B (yeast) 15815621,15766530,15489334,14702039,12962634,12665801,12477932,11319234,17207965,15197186,17353931,17611689,16189514,17347649,17643375,19739119,19955215 55233 NM_018221,AC073263,CH471053,CQ826793,AB016839,AJ577474,AK001650,AK021657,AK023321,BC003398,CR595787 ADQ33200,NP_060691,AAX93060,EAW99695,EAW99696,CAG44585,BAB19058,CAE12093,BAA91810,BAB13868,BAB14525,AAH03398,Q9H8S9 Hs.727537 C2orf6|FLJ10788|FLJ11595|MATS1|MOB1|MOBK1B|Mob4B mob1 alpha|mob1 homolog 1B|mob1A|mps one binder kinase activator-like 1B protein-coding 1317819 MOBKL2A MOB1, Mps One Binder kinase activator-like 2A (yeast) 737633,1580863 11256614,16381901,15489336,15489334,15057824,14702039,12477932,11230166,11076863 737633 126308 NM_130807,AC005328,AB061793,AJ580635,AK094732,AK095471,AL832474,BC009547,BC015049,CR627409 NP_570719,AAC27672,BAB84554,CAE45267,BAG53063,AAH15049,CAH10498,Q6AI16,Q96BX8,CAL37922 Hs.86912 moblak MOB LAK|MOB-LAK|mob1 homolog 2A|mps one binder kinase activator-like 2A protein-coding 1346999 MOBKL2B MOB1, Mps One Binder kinase activator-like 2B (yeast) The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq] 737633 20445134,17353931,19240061,18519826,16344560,16189514,15489334,14702039,12477932,8889548,15146197,18615156,19060904,19734901,20237496,20379614,20423481,20936779,20801718,16712791 737633 79817 NM_024761,AL163192,AL451123,CH471071,AA149400,AI692878,AJ580636,AK022201,AK023266,AK074231,AK097199,AK172755,AL832572,AU126938,BC033027,BF511468,BI860336,CB128567,CR457307,CN260547,DB266074 NP_079037,EAW58562,CAE45268,BAB14497,BAB85024,BAD18741,CAD89934,AAH33027,CAG33588,Q86TA1,Q8TEC6,ABM82128,ABM85311 Hs.369022,Hs.690014,Hs.551550 FLJ13204|FLJ23916|MGC32960|MOB3B mob1 homolog 2b|monopolar spindle 1 binding, MOB1, domain containing|mps one binder kinase activator-like 2B protein-coding 1317238 MOBKL2C MOB1, Mps One Binder kinase activator-like 2C (yeast) The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 15489334,14702039,12477932,8889548 148932 NM_201403,NM_145279,AL136373,CH471059,AJ580637,AK090453,AK091808,BC026078,BC121169,BG717827,BI601393,CF125162,CR599319,NG_027514 NP_958805,NP_660322,CAI14766,CAI14767,EAX06898,EAX06899,CAE45269,BAC03434,BAC03752,AAI21170,Q70IA8 Hs.632401 MGC26743|MOB3C OTTHUMP00000009683|mob1 homolog 2C|mps one binder kinase activator-like 2C protein-coding 1601878 MOBKL3 MOB1, Mps One Binder kinase activator-like 3 (yeast) This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 20029029,20936779,17353931,18362890,16189514,16169070,15489334,14702039,12477932,11872741,11319234,11230166,11217851,10810093,18782753,11251078,19615732 25843 CR602742,DC350915,NM_199482,NM_015387,NM_001100819,AC020550,CH471063,AB015441,AF093825,AF151853,AF250319,AJ580638,AK027043,AK289377,AK292938,AK297514,AK307497,AL080070,BC005237,CR457371 CAG33652,Q9Y3A3,NP_955776,NP_056202,NP_001094289,AAX93147,EAW70164,EAW70165,EAW70166,EAW70167,EAW70168,BAB19057,AAP97221,AAD34090,AAG44567,CAE45270,BAB15635,BAF82066,BAF85627,BAG59922,CAB45697,AAH05237 Hs.645458 2C4D|CGI-95|MGC12264|MOB1|MOB3|PREI3 class II mMOB1|mob1 homolog 3|mps one binder kinase activator-like 3|phocein|preimplantation protein 3 protein-coding 736574 MOBP myelin-associated oligodendrocyte basic protein 633191 7989345,17964117,16344560,15489334,15009677,14702039,12477932,9749786,18029348,20877624,18839057,19734545,17207965 633191 4336 NR_003090,NM_182935,AC092058,CH471055,AK094745,AK095180,AK124766,AK127034,AK290187,BC022471,BC075796,BC119694,BC119695,CR610306,D28113,D28114,DA343382,DA418624,EB387411 NP_891980,EAW64588,EAW64589,EAW64590,EAW64591,EAW64592,EAW64593,EAW64594,BAF82876,AAH22471,AAH75796,AAI19695,AAI19696,BAA05659,BAA05660,Q13875,ADQ32378 Hs.121333 MGC87379 OTTHUMP00000209608|OTTHUMP00000209638|OTTHUMP00000209639|myelin-associated oligodendrocyte basic protein|myelin-associated oligodendrocytic basic protein protein-coding 1318297 MOCOS molybdenum cofactor sulfurase 9373149,8125298,11302742,19500084,17368066,16964243,15489334,15302935,14624414,12477932 55034 NM_017947,AC023043,CH471088,CS300660,AK000740,AK222886,AL834481,BC012079,BQ931455,GN364804 NP_060417,EAX01378,CAK32324,BAA91353,BAD96606,CAD39140,AAH12079,Q96EN8,ABM86767,ABW03823,CAY77139 Hs.405028 FLJ20733|HMCS|MCS|MOS moCo sulfurase|molybdenum cofactor sulfurase protein-coding 1318258 MOCS1 molybdenum cofactor synthesis 1 Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in molybdenum cofactor biosynthesis. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA. Two of the splice variants found for this gene express proteins (MOCS1A-MOCS1B) that result from a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. [provided by RefSeq] 1625104,1558665,1624402,1600439 16429380,19544009,19793632,9731530,9921896,16021469,12754701,17065069,15489334,15180982,15146197,14702039,14574404,12477932,12208140,11891227,10917590,10327149,10053004,9812897,9634514,8889548 1625104,1558665,1624402,1600439 4337 AV724791,DC377054,NR_033233,NM_001075098,NM_005943,NG_009297,AJ293577,AJ404969,AL136089,CH471081,AF034374,AF214015,AF214022,AF214023,AI122656,AJ224328,AK056740,AK091306,AK300300,AY423726,BC036839,CA944911,CN267723,CR610341,CX787499,DC410181 NP_001068566,NP_005934,CAC44527,CAC44526,CAI20007,CAI20008,CAI20009,CAI20011,CAI20012,CAI20013,CAI20014,CAI20015,EAX03998,EAX03999,EAX04000,EAX04001,EAX04002,AAB87523,AAB87524,AAF67843,AAF67844,AAF67857,AAF67858,CAA11897,CAA11898,BAG51799,BAG62053,AAS00489,AAH36839,Q5TCE5,Q9NP26,Q9NP27,Q9NZB8,AAI40422 Hs.357128,Hs.718492 KIAA0381|MIG11|MOCOD|MOCS1A|MOCS1B MOCS1A enzyme|OTTHUMP00000016354|OTTHUMP00000016356|OTTHUMP00000216744|cell migration-inducing gene 11 protein|migration-inducing gene 11 protein|molybdenum cofactor biosynthesis protein 1|molybdenum cofactor biosynthesis protein A|molybdenum cofactor synthesis-step 1 protein A-B protein-coding 1346599 MOCS1P1 molybdenum cofactor synthesis 1 pseudogene 1 27187 NG_001271,AJ272089,AC026470 pseudo 1348601 MOCS1P2 molybdenum cofactor synthesis 1 pseudogene 2 27186 1347583 MOCS2 molybdenum cofactor synthesis 2 Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq] 1580863,1625104,1556492,1558665 12732628,15073332,10053004,9889283,17158010,16964243,16737835,16021469,15489334,12754701,12477932,11746050,10053003,9812897,9731530,1427786,18491921,16169070,18650437 1625104,1556492,1558665 4338 NM_004531,NG_008435,AC008966,CH471123,AA252410,AF091871,AF117815,AF155659,AK126211,AK312887,BC029287,BC039720,BC046097,BC095417,CD514049,CR457172,CR598495,CR615175,CR615842,CR621969,CR624096,NM_176806,HB937954,HC995363 NP_789776,NP_004522,EAW54874,EAW54875,EAW54876,EAW54877,AAD14598,AAD14599,AAD13296,AAD13297,AAF67478,BAG35735,AAH46097,CAG33453,O96007,O96033,CBG03804,CBV17326 Hs.163645 MCBPE|MOCO1|MOCS2A|MOCS2B|MPTS MOCO1-A|MOCO1-B|MPT synthase large subunit|OTTHUMP00000221522|OTTHUMP00000221953|OTTHUMP00000221954|molybdenum cofactor biosynthesis protein E|molybdenum cofactor synthesis protein 2 large subunit|molybdenum cofactor synthesis protein 2 small subunit|molybdenum cofactor synthesis protein 2A|molybdenum cofactor synthesis protein 2B|molybdopterin synthase catalytic subunit|molybdopterin synthase sulfur carrier subunit|molybdopterin-synthase large subunit|molybdopterin-synthase small subunit|sulfur carrier protein MOCS2A protein-coding 1316006 MOCS3 molybdenum cofactor synthesis 3 Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. One of the enzymes required for the biosynthesis of MoCo is molybdopterin synthase (MPT synthase). The protein encoded by this gene adenylates and activates MPT synthase. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq] 1580863,1625104 19017811,18650437,15073332,17459099,15910006,18491921,15489334,15231747,12754701,12477932,11972321,11780052,11746050 1625104 27304 NM_014484,AL034553,CH471077,AF102544,BC015939,BG105185,CR599749 NP_055299,CAB53750,EAW75606,AAC72412,AAH15939,O95396,ABM83281,ABM86472 Hs.159410 MGC9252|UBA4|dJ914P20.3 MPT synthase sulfurylase|UBA4, ubiquitin-activating enzyme E1 homolog|adenylyltransferase and sulfurtransferase MOCS3|molybdenum cofactor synthesis protein 3|molybdopterin synthase sulfurylase|ubiquitin-like modifier activating enzyme 4 protein-coding 1350729 MOCS3P molybdenum cofactor synthesis 3 pseudogene 326305 NG_002557,AL137918 MOCS3P pseudo 4891559 MOCS3P2 molybdenum cofactor synthesis 3 pseudogene 2 100420520 AL138709,NG_024852 pseudo 736817 MOG myelin oligodendrocyte glycoprotein The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 19615732,19687098,19851445,19907433,20379614,20452030,8666381,8367453,7964757,7790876,8812306,20471030,1373175,8530032,19167444,19165527,19034380,18753473,18001301,17971048,17928868,17897745,17573820,17554625,17509152,17402967,17142321,16903876,16900754,16344560,15660663,15146195,14688379,14574404,12817031,12482392,12477932,12149493,12115610,12077287,11895369,11739534,11118029,9210466,8915905,20685767,20800907,19913121,20593013,20628086 4340 DA139582,DA140757,DA253273,NM_001170418,AK295213,AK308949,AK312892,AL119259,AY566847,AY566848,AY566851,AY566852,AY566853,AY566854,BC035938,BG699861,BI545470,BX107434,CR598447,CR623648,DA252279,U18798,U18799,U18800,U18801,U18803,U18840,U18843,U64564,U64565,U64566,U64567,U64568,U64569,U64570,U64571,X74511,AI205181,NM_001008228,NM_206811,NM_206809,NM_002433,NM_206812,NM_206810,NM_001008229,AL050328,AL645936,AL662826,NM_206814,AL669813,AL929591,BX120002,BX927250,CH471081,CR388408,CR759766,CR936483,Z48051,AB209815 NP_001163889,BAH12014,BAG35739,AAU09338,AAU09339,AAU09342,AAU10102,AAU09343,AAU09344,AAH35938,AAC50876,AAC50877,AAB36870,AAC50878,AAC50879,AAC50361,AAC50362,AAB08088,AAB08089,AAB08090,AAB08091,AAB08092,AAB08093,AAB08094,AAB08095,CAA52617,Q16653,Q29ZN8,Q29ZN9,Q56UX9,Q56UY0,Q59EJ6,Q5JNX7,Q5JNY2,Q5SSB8,Q5STL9,Q5STM1,Q5STM2,Q5SUK4,Q5SUK5,Q5SUK6,Q5SUK7,NP_996537,NP_001008229,NP_996534,NP_996532,NP_002424,NP_996535,NP_996533,NP_001008230,CAB89267,CAB89268,CAB89269,CAB89270,CAB89271,CAB89273,CAB89274,CAI18020,CAI18021,CAI18022,CAI18023,CAI18024,CAI18025,CAI18026,CAI18027,CAM25411,CAI17395,CAI17396,CAI17397,CAI17398,CAI17399,CAI17400,CAI17401,CAM24804,CAI17634,CAI17636,CAI17637,CAI95412,CAI41911,CAI41912,CAI41913,CAI41914,CAI41915,CAI41917,CAI41918,CAI95560,CAI95561,CAI95562,CAI95563,CAI95564,CAI95565,CAI95566,CAI95568,EAX03213,EAX03214,EAX03215,EAX03216,EAX03217,EAX03218,EAX03219,EAX03220,CAA88109,BAD93052,CAI17394,Q5SUL0,Q5SUK9,Q5SUL1,Q8IYG5,ABM83300,ABM86511,ABM86512,ABW03311 Hs.141308 MGC26137|MOGIG-2|MOGIG2 MOG Ig-AluB|OTTHUMP00000029120|OTTHUMP00000214816|OTTHUMP00000214817|OTTHUMP00000214867|OTTHUMP00000214868|OTTHUMP00000214869|myelin-oligodendrocyte glycoprotein protein-coding 1323209 MOGAT1 monoacylglycerol O-acyltransferase 1 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM] 15815621,14970677,12077311,11481335 116255 NM_058165,AC104772,CH471063,AF384163,BN000154 NP_477513,AAX81987,EAW70805,EAW70806,AAK84178,CAD89265,Q96PD6,AAI40228,AAI46519 Hs.344090 DGAT2L|DGAT2L1|MGAT1 2-acylglycerol O-acyltransferase 1|acyl-CoA:monoacylglycerol acyltransferase 1|diacylglycerol O-acyltransferase 2 like 1|diacylglycerol O-acyltransferase candidate 2|diacylglycerol acyltransferase 2-like protein 1|hDC2 protein-coding 1316028 MOGAT2 monoacylglycerol O-acyltransferase 2 Dietary fat absorption from the small intestine is facilitated by acyl-CoA:monoacylglycerol transferase (MOGAT; EC 2.3.1.22) and acyl-CoA:diacylglycerol acyltransferase (DGAT; see MIM 604900) activities. MOGAT catalyzes the joining of monoacylglycerol and fatty acyl-CoAs to form diacylglycerol (Yen and Farese, 2003 [PubMed 12621063]).[supplied by OMIM] 15489334,14970677,14966132,14702039,12824082,12621063,12576479,12477932 80168 AK000245,AK026297,AK128620,AK291998,AY157608,BC103876,BC103877,BC103878,HB886763,HB911613,HC944172,HC969022,NM_025098,AP001922,CH471076 EAW74982,EAW74983,BAB15436,BAC87534,BAF84687,AAO23672,AAI03877,AAI03878,AAI03879,Q3SYC2,CBF67540,CBF90899,CBU92413,CBV04419,NP_079374 Hs.288568 DGAT2L5|FLJ22644|MGAT2|MGC119183|MGC119184|MGC119185 2-acylglycerol O-acyltransferase 2|acyl CoA:monoacylglycerol acyltransferase 2|acyl-CoA:monoacylglycerol acyltransferase 2|diacylglycerol O-acyltransferase candidate 5|diacylglycerol acyltransferase 2-like protein 5|hDC5|hMGAT2 protein-coding 1350436 MOGAT3 monoacylglycerol O-acyltransferase 3 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM] 15489334,14970677,12975309,12853948,12618427,12477932,9847074 346606 NM_178176,AC004876,CH471197,AY229854,AY358200,BC100953,BC100954,BC100955,HB886765,HB911615,HC944174,HC969024 NP_835470,AAD45832,EAW50203,EAW50204,AAO63579,AAQ88567,AAI00954,AAI00955,AAI00956,Q86VF5,CBF67541,CBF90900,CBU92414,CBV04420 Hs.512217 DC7|DGAT2L7|MGAT3|MGC119203|MGC119204 2-acylglycerol O-acyltransferase 3|acyl coenzyme A:monoacylglycerol acyltransferase 3|acyl-CoA:monoacylglycerol acyltransferase 3|diacylglycerol O-acyltransferase candidate 7|diacylglycerol acyltransferase 2-like protein 7|hDC7 protein-coding 1601843 MON1A MON1 homolog A (yeast) 16713569,14702039,12477932 84315 NM_001142501,AC105935,NM_032355,CH471055,AK074404,AK092018,AK307140,AK315630,BC006299,BC009459,BC047022,BF514313,BQ946394,CR598615,CR626253 NP_115731,NP_001135973,EAW65037,EAW65038,BAC03790,BAG37998,AAH06299,AAH09459,AAH47022,Q86VX9 Hs.655014 FLJ97088|MGC13272|SAND1 OTTHUMP00000210494|OTTHUMP00000210920|vacuolar fusion protein MON1 homolog A protein-coding 1605088 MON1B MON1 homolog B (yeast) 17109635,14702039,12828340,12477932,10048485,8889548,20562859,19844255,19851296,20198315 22879 BC024277,BU682558,CF125013,NM_014940,AC009139,CH471114,AB020679,AF442486,AK023374,AK023896,AK128411,AK293392,AK296467,AW503582 AAH24277,Q6ZR87,Q7L1V2,Q9H8Q7,NP_055755,EAW95607,EAW95608,BAA74895,AAL35292,BAB14549,BAG51238,BAC87427,BAG56901,BAG59112 Hs.513743 HSRG1|SAND2|SRG1 HSV-1 stimulation-related gene 1 protein|HSV-I stimulating-related protein|vacuolar fusion protein MON1 homolog B protein-coding 1604635 MON2 MON2 homolog (S. cerevisiae) 18418388,16381901,16344560,16301316,15489336,14702039,12477932,11230166,11076863,10470851 23041 NM_015026,AC026115,AC079035,AB017814,AB028963,AK022671,AK092646,AK123842,AL833066,AL834320,BC065289,BC136621,BC141817,BC142710,BC144309,BC144324,BC151241,BX537415,CR590768,DA125763 NP_055841,BAC11707,BAA82992,BAG51103,BAC03935,BAG53968,CAD89933,CAD38989,AAH65289,AAI36622,AAI41818,AAI42711,AAI44310,AAI51242,CAD97657,Q6P148,Q7Z3U7,CAL37997 Hs.389378 KIAA1040|MGC35493 protein MON2 homolog protein-coding 1321422 MORC1 MORC family CW-type zinc finger 1 This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq] 10369865,15489334,12477932,11060461,20379614 27136 NM_014429,AC016948,AC112138,CH471052,AF084946,AK302642,AL353955,BC028680,BC050307 NP_055244,EAW79714,AAD43004,BAG63883,CAB89255,AAH50307,Q86VD1 Hs.591296 CT33|MORC|ZCW6 MORC family CW-type zinc finger protein 1|OTTHUMP00000214352|cancer/testis antigen 33|microrchidia, mouse, homolog of protein-coding 1321976 MORC2 MORC family CW-type zinc finger 2 1580863 17081983,16964243,16565220,15489334,15461802,15302935,14607086,12477932,10591208,10048485,20225202,20110259 22880 NM_014941,AC004542,CH471095,AB020659,AL133637,BC019257,BC136782,CR456469 NP_055756,AAC12954,EAW59921,EAW59922,BAA74875,CAB63760,AAH19257,AAI36783,CAG30355,Q9Y6X9,AAI41658,CAK54450,CAK54749 Hs.555918 ZCW3|ZCWCC1 MORC family CW-type zinc finger protein 2|zinc finger CW-type coiled-coil domain protein 1|zinc finger, CW type with coiled-coil domain 1|zinc finger, CW-type with coiled-coil domain 1|zinc finger, cw-type with coiled-coil domain 1 protein-coding 1317400 MORC3 MORC family CW-type zinc finger 3 This gene encodes a protein that localizes to the nuclear matrix. The protein also has RNA binding activity, and has a predicted coiled-coil domain. [provided by RefSeq] 1580863 16341674,14702039,14607086,12477932,11927593,10830953,8889548,8590280,18029348,17332504,16567619,16344560,20501696 23515 AP000692,AP000693,CH471079,AK025327,AK125011,AK292957,AK295133,BC007311,BC042609,BC058002,BC094779,BC132731,BC144116,BM665866,BM786077,BU657895,D50926,DA702537,NM_015358 NP_056173,BAA89432,EAX09742,BAF85646,BAG58156,AAH42609,AAH94779,AAI32732,BAA09485,Q14149,Q4VBZ9,Q86YD6 Hs.421150 NXP2|ZCW5|ZCWCC3 MORC family CW-type zinc finger protein 3|nuclear matrix protein NXP2|zinc finger CW-type coiled-coil domain protein 3|zinc finger, CW type with coiled-coil domain 3|zinc finger, CW-type with coiled-coil domain 3|zinc finger, cw-type with coiled-coil domain 3 protein-coding 1345473 MORC4 MORC family CW-type zinc finger 4 1580863 16344560,17608765,15790807,15772651,15231748,14702039,14607086 79710 BQ101064,DA713534,NG_016392,NM_001085354,AL158821,CH471120,AK021627,AK056235,AK300305,AY927537,CA448781,CB989767,CR594041,CR613067,NM_024657,EF125210,EF125209 NP_078933,NP_001078823,CAI43049,EAX02725,EAX02726,EAX02727,EAX02728,BAB13859,BAB71125,BAG62058,ABL84747,ABL84748,Q8TE76,AAI72254,AAI72575 Hs.496544 FLJ11565|ZCW4|ZCWCC2|dJ75H8.2 MORC family CW-type zinc finger protein 4|zinc finger CW-type coiled-coil domain protein 2|zinc finger, CW type with coiled-coil domain 2 protein-coding 1348273 MORF4 mortality factor 4 Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.[supplied by OMIM] 1580863 19769966,11290425,17460191,20536842,20600782,12407449,10705034,10232582,9891081,2062841,12391155 10934 NM_006792,AC079789,AF100614 NP_006783,AAD29871,AAI72311 Hs.534391 CSR|CSRB|SEN|SEN1 mortality factor 4|senescence (cellular)-related 1|senescence-related, cellular, 1 protein-coding 1317423 MORF4L1 mortality factor 4 like 1 1580863 20332121,16387653,17577209,19553677,20379614,14506250,14966270,17573780,17460191,17353931,17135209,17008723,16407074,16189514,15647280,15635413,15498874,15489334,15367658,15196461,14702039,12963728,12477932,12397079,12391155,11500496,11042152,9891081,9110174,8619474 10933 AF109188,AF131847,AF161546,AF167173,AF218011,AK095823,AK098485,AK296650,AK300789,AK310181,AK310592,AK310702,AL137697,AY148481,AF100615,NM_206839,NM_006791,AC011944,AC103975,CH471136,AF070664,BC002936,BC022845,BC067826,BC121092,BC121093,BC141840,BG771854,CR590569,CR599199,CR599453,CR600778,CR601080,CR605106,CR605109,CR606364,CR606633,CR608590,CR613253,CR613628,CR613862,CR614825,CR616387,CR617357,CR621917,CR622863,CR624868,CR625082 AAD29872,AAQ13497,AAD20058,AAF29033,AAF80854,AAG17253,BAG53140,BAG59248,BAH13347,CAB70879,NP_996670,NP_006782,EAW99144,EAW99145,EAW99146,EAW99147,AAD20970,AAN65338,AAH02936,AAH22845,AAH67826,AAI21093,AAI21094,AAI41841,Q0VAE4,Q9UBU8,ABM83528,ABM86763 Hs.374503 Eaf3|FWP006|HsT17725|MEAF3|MGC10631|MORFRG15|MRG15|S863-6 Esa1p-associated factor 3 homolog|MORF-related gene 15 protein|MORF-related gene on chromosome 15|mortality factor 4-like protein 1|protein MSL3-1|transcription factor-like protein MRG15 protein-coding 4889249 MORF4L1P4 mortality factor 4 like 1 pseudogene 4 100420030 AL354696,NG_024849 pseudo 4889243 MORF4L1P7 mortality factor 4 like 1 pseudogene 7 100130637 AL591043,NG_022744 pseudo 1347861 MORF4L2 mortality factor 4 like 2 1580863 14506250,10942595,18593893,17353931,16344560,16341674,15772651,15647280,15489334,14702039,12963728,12477932,12391155,16230350,11988016,9891081,9373149,8125298,7584028,7584026 9643 NM_001142418,NM_001142419,NM_001142420,NM_001142421,NM_001142422,NM_001142423,NM_001142424,NM_001142425,NM_001142426,NM_001142427,NM_001142428,NM_012286,NM_001142429,NM_001142430,NM_001142431,NM_001142432,AL049610,CH471190,AB050778,AB050779,AF100620,AF167174,AK056012,AK095298,AK126115,AK223504,AK302083,BC056899,BC093013,BM471743,BM835303,CR591672,CR591939,CR592635,CR596284,CR596770,CR599203,CR599214,CR599829,CR600428,CR602458,CR604083,CR604767,CR605193,CR605347,CR606527,CR606859,CR609555,CR610517,CR611146,CR614320,CR614933,CR614948,CR618186,CR620070,CR620931,CR621359,CR621622,CR622529,CR623503,CR623631,CR625600,CR626356,D14812,DA068448,DA268606,DA987770,DC301727,DC366195,DC419967,DC424668,AK126427 NP_036418,NP_001135890,NP_001135891,NP_001135892,NP_001135893,NP_001135894,NP_001135895,NP_001135896,NP_001135897,NP_001135898,NP_001135899,Q5JXX1,Q5JXX2,Q5JXX3,Q5JXX4,Q5JXX6,ABZ92277,ACE87818,ACT64561,NP_001135901,NP_001135902,NP_001135903,NP_001135904,CAB55701,CAI42159,CAI42160,CAI42161,CAI42162,CAI42163,EAW54697,EAW54698,EAW54699,EAW54700,EAW54701,BAC22659,AAD29873,AAF80855,BAG51604,BAG54288,NP_001135900,BAG54326,BAD97224,BAG63470,AAH56899,AAH93013,BAA03553,Q15014,Q53EY5 Hs.326387,Hs.597035 KIAA0026|MORFL2|MRGX MORF-related gene X protein|MSL3-2 protein|OTTHUMP00000023750|OTTHUMP00000023751|OTTHUMP00000023752|OTTHUMP00000023753|OTTHUMP00000023754|OTTHUMP00000023756|mortality factor 4-like protein 2|protein MSL3-2|transcription factor-like protein MRGX protein-coding 1352945 MORF4LP1 mortality factor 4 like pseudogene 1 9891081 326591 NG_002588,AF100616,AL445435 MORF4LP1|MRG1 pseudo 1349684 MORF4LP2 mortality factor 4 like pseudogene 2 9891081 326592 NG_002589,AF100618 MRG5 pseudo 1342535 MORF4LP3 mortality factor 4 like pseudogene 3 9891081 326593 NG_002590,AC087207,AF100619 MORF4LP3|MRG11 pseudo 1352910 MORF4LP4 mortality factor 4 like pseudogene 4 9891081 326594 NG_002591,AC007537,AF100617 MRG4 pseudo 3322044 MORF4LP5 mortality factor 4 like pseudogene 5 100129288 AL441964,NG_022605 MORF4LP5 pseudo 1601942 MORG1 mitogen-activated protein kinase organizer 1 11991638,16407229,15489334,15118098,12477932,9373149,8125298,17058450,19429104,7757816,17207965,16712791 84292 NM_001099737,NM_032332,AC010422,CH471106,AK074525,AK223195,AK314164,BC005870,CB143206,CR602746,NG_015814,NR_029375,Z46189 NP_001093207,NP_115708,EAW84282,EAW84283,EAW84284,BAD96915,BAG36848,AAH05870,Q9BRX9,ADQ32315 Hs.657204 MGC4238|MORG1 MAPK organizer 1|WD repeat domain-containing protein 83|mitogen-activated protein kinase organizer 1 protein-coding 1602465 MORN1 MORN repeat containing 1 16710414,15489334,14702039,12477932 79906 NM_024848,AL513477,AL589739,CH471183,AK024003,AK299217,AK310323,BC021704 NP_079124,CAI22608,CAI22609,CAI22610,CAI22611,CAI22504,EAW56115,BAB14768,BAG61255,AAH21704,Q5T089 Hs.642701 FLJ13941|RP4-740C4.1 MORN repeat-containing protein 1 protein-coding 2303892 MORN2 MORN repeat containing 2 19913896,17924679,15489334,14702039,12477932,11181995,16169070,19451621 729967 NM_001145450,AC018693,AF449188,AF449189,AF449190,AF449191,CH471053,AY367766,BC095472,BC102032,BC102034,BC102035,BE466470 NP_001138922,EAX00355,AAQ73170,AAH95472,AAI02033,AAI02035,AAI02036,Q502X0 Hs.99841 BLOCK27|MGC111382|MGC126130|MGC126131|MGC126132|MOPT MORN motif protein in testis|MORN repeat-containing protein 2|OTTHUMP00000204078|protein containing single MORN motif in testis protein-coding 1603521 MORN3 MORN repeat containing 3 17207965,15489334,12477932 283385 NM_173855,AC084018,AC140062,CH471054,AY177732,BC057760,CR610648 ADQ32969,NP_776254,EAW98271,EAW98272,EAW98273,EAW98274,AAO18675,AAH57760,Q6PF18 Hs.434154 MGC71497 MORN repeat-containing protein 3|membrane occupation and recognition nexus repeat containing protein protein-coding 1316472 MORN4 MORN repeat containing 4 737633 17285308,16381901,15489336,12477932,11230166,11076863 737633 118812 NM_178832,AL355315,CH471066,AJ312050,AJ431726,AK098791,AK289406,AL834132,BC010230,BC022054,BC040015,BC093023,DQ338435,DQ338436,NM_001098831 NP_001092301,NP_849154,CAI15458,CAI15459,EAW49908,EAW49909,EAW49910,EAW49911,CAC85055,CAD24475,BAF82095,CAD38849,AAH10230,AAH22054,AAH40015,AAH93023,ABC61705,ABC61706,Q8NDC4,Q8WVZ3,CAL37447,CAL38377 Hs.217409 C10orf83|FLJ25925|RP11-548K23.4|bA548K23.4 44050 protein|MORN repeat-containing protein 4|OTTHUMP00000020223|protein 44050|retinophilin protein-coding 1317107 MORN5 MORN repeat containing 5 12477932,20583170 254956 NM_198469,AL162423,AL162424,CH471090,AI026684,AI560944,AK128877,AK302081,BC133690,BC143440 NP_940871,CAH73981,CAI14702,CAI14705,EAW87512,EAW87513,EAW87514,BAC87653,BAH13621,AAI33691,Q5T7S4,Q5VZ52 Hs.71428 C9orf113|C9orf18|FLJ46909|FLJ50034|RP11-498E2.5 MORN repeat-containing protein 5 protein-coding 735699 MOS v-mos Moloney murine sarcoma viral oncogene homolog MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM] 1580863 17474147,18550795,18391951,18246541,17410130,16401344,15489334,15341746,15188402,12477932,12022922,11180847,10439036,10376524,9552420,9008413,9001211,7540181,6287464,3000766,20186124,20546612,17207965 4342 NM_005372,AC107376,CH471068,J00119,BC069569,BC069590,BC106737,BC106738 NP_005363,EAW86773,AAA52029,AAH69569,AAH69590,AAI06738,AAI06739,P00540,ADQ31986 Hs.533432 MGC119962|MGC119963|MSV c-mos|oncogene MOS, Moloney murine sarcoma virus|oocyte maturation factor mos|proto-oncogene c-Mos|proto-oncogene serine/threonine-protein kinase mos protein-coding 1604320 MOSC1 MOCO sulphurase C-terminal domain containing 1 20861021,20877624,16710414,16344560,15489334,14702039,12477932,11886751,9373149,8125298,19053771,21029045 64757 NM_022746,AL445423,AL606726,CH471100,AK000035,AK026043,AK092439,AK094105,AK225416,AK290812,BC010619,CA439234,CB048738,CR606830,DA878171 NP_073583,CAH72116,CAH72118,CAH72119,CAH71881,EAW93291,BAB15333,BAC04286,BAF83501,AAH10619,Q5VT66 Hs.497816 FLJ22390|MARC1|RP11-295M18.1 MOSC domain-containing protein 1, mitochondrial|OTTHUMP00000035462|mitochondrial amidoxime reducing component 1 protein-coding 1606267 MOSC2 MOCO sulphurase C-terminal domain containing 2 11256614,19875103,20379614,16973608,16710414,16381901,15489336,15489334,14702039,12477932,11886751,11230166,11076863,20861021,20808825,20877624 54996 EU567145,BC016859,AL359353,AL606726,CH471100,AK000612,AL136931,BC010366,BC011973,BC015829,NM_017898 ACB21048,AAH16859,Q969Z3,CAL37897,CAL38507,NP_060368,CAH70303,CAH70304,CAH70306,CAH71878,CAH71879,CAH71880,EAW93292,EAW93293,EAW93294,EAW93295,BAA91287,CAB66865,AAH11973,AAH15829 Hs.369042 FLJ20605|RP11-270A6.1 MOSC domain-containing protein 2, mitochondrial protein-coding 1347086 MOSPD1 motile sperm domain containing 1 737633,1580863 15772651,15533722,15489334,12477932 737633 56180 NM_019556,CH471107,CQ834430,Z83826,AK299074,AK299172,AK307196,AK316570,AL137163,BC005700,DQ323992,AF086333 NP_062456,EAX11743,EAX11744,CAH05430,CAB53060,CAI42828,CAI42829,BAG61140,BAG61218,BAG38159,CAB69662,AAH05700,ABC88594,Q2I381,Q9UJG1,ABM82054,ABM85233 Hs.726077 DJ473B4 OTTHUMP00000033251|motile sperm domain-containing protein 1 protein-coding 1350806 MOSPD2 motile sperm domain containing 2 737633,1580863 18029348,17081983,15489334,14702039,12477932,16344560 737633 158747 NM_152581,AC121340,AC140846,CH471074,AK057941,AK093075,AK315781,AL834345,BC030641,CR615328,AI744083,AL832230,DA708010,NG_017159,NM_001177475 NP_689794,EAW98864,EAW98865,EAW98866,EAW98867,BAC04043,CAD39011,AAH30641,Q8NHP6,ABW03583,NP_001170946 Hs.725182 DKFZp686C1553|MGC26706 motile sperm domain-containing protein 2 protein-coding 1312722 MOSPD3 motile sperm domain containing 3 This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq] 737633,1582660,1580863 15533722,15489334,12690205,12477932,9799793 737633,1582660 64598 NM_001040097,NM_001040098,NM_023948,NM_001040099,AC099394,AF053356,CH236956,CH471091,BC005042,BC009482,BC011653,BC028475,BG164079,BG707362,BQ923161,CR608430,CR609640 NP_001035186,NP_001035187,NP_076438,NP_001035188,AAC78797,AAC78799,EAL23824,EAW76511,EAW76512,EAW76513,EAW76514,AAH05042,AAH11653,O75425,AAC78798 Hs.521086 CDS3|NET30 OTTHUMP00000215917|motile sperm domain-containing protein 3 protein-coding 1352282 MOSPD4 motile sperm domain containing 4 404028 AK008233 1321654 MOV10 Mov10, Moloney leukemia virus 10, homolog (mouse) 1580863 20140200,17148452,17643375,19665004,16289642,18552826,17353931,17081983,16710414,16381901,15489336,15489334,14702039,12477932,11230166,11076863,10997877,9373149,20543829,8125298 4343 BC025339,BU623853,BX647787,NM_001130079,AL603832,CH471122,AB046851,AK023297,AK057353,AK074174,AK226011,AK301229,AK308874,AK310512,AL832805,AL833353,BC002548,BC004499,BC009312,NM_020963 Q5JR04,Q9H8T8,Q9HCE1,CAL37885,CAL38554,ABM83114,ABM87844,AAH09312,NP_066014,NP_001123551,CAI14055,CAI14056,EAW56528,EAW56529,EAW56530,EAW56531,BAB13457,BAB14514,BAG51905,BAB85000,BAH13436,AAH02548,AAH04499 Hs.514941 DKFZp667O1423|FLJ32791|KIAA1631|fSAP113|gb110 OTTHUMP00000013678|OTTHUMP00000013679|OTTHUMP00000013680|functional spliceosome-associated protein 113|moloney leukemia virus 10 protein|putative helicase MOV-10 protein-coding 1345883 MOV10L1 Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. [provided by RefSeq] 1580863 11839499,11279525,15461802,14702039,12477932,10591208,15342556,20379614 54456 AL022328,AL034546,CH471138,AF285604,AK000033,AK090740,AK092675,AK302401,AK303017,AK307675,AL133068,BC029552,BC042828,BC063837,BC140944,BC150137,BC152539,CR456466,NM_018995,BP382225,DB451595,NM_001164104,NM_001164105,NM_001164106 CAK54447,CAK54746,AAI39928,NP_061868,CAI23226,EAW73492,EAW73493,AAK31983,BAA90895,BAC03511,BAG52591,BAH13697,BAH13879,CAB61391,AAH29552,AAH42828,AAI40945,AAI50138,AAI52540,CAG30352,Q8IVP3,Q9BXT6,NP_001157576,NP_001157577,NP_001157578 Hs.62880 DJ402G11.8|DKFZp434B0717|FLJ33421 MOV10-like protein 1|Mov10-like 1|moloney leukemia virus 10-like protein 1|putative helicase Mov10l1 protein-coding 1320700 MOXD1 monooxygenase, DBH-like 1 15337741,12975309,12477932,9751809 26002 AL023578,AL357034,CH471051,AI751100,AJ420565,AK074879,AK226054,AL080058,AY007239,AY359094,BC018756,CR624520,NM_015529 NP_056344,CAI19937,CAI19938,CAI15715,CAI15718,EAW48032,EAW48033,EAW48034,BAC11263,CAB45692,AAG09636,AAQ89452,AAH18756,Q6UVY6,ABM83090,ABM86284 Hs.6909 DKFZp564G202|MOX|PRO5780|dJ248E1.1 DBH-like monooxygenase protein 1|dopamine-oxygenase|monooxygenase X protein-coding 1641965 MOXD2 monooxygenase, DBH-like 2 pseudogene 17642472,15489334,12853948,8650574,18523312,18777093,19051206,19056690,19380806,2144610,2426193,3011602,3860845,3983641 100289017 NR_024346,NG_001333,AC231381,DY655576 A6NHM9 Hs.641504 MOXD2 pseudo 1345261 MPD1 myopathy, distal 1 7847377 4347 1317039 MPDU1 mannose-P-dolichol utilization defect 1 This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1298632,1580863 18029348,19170196,19625176,19692168,17353931,11733564,11179430,18676680,15862967,15342556,14702039,12477932,11733556,11042152,9653160,9373149,8663248,8125298,17207965 1298632 9526 NM_004870,NR_024603,NG_009204,AC016876,CH471108,CQ783898,AF038961,AF059752,AF258568,AK027742,AK055923,AK075299,AK225401,AK225432,AK297001,AK297691,AK300083,AK300140,AK314527,BC001898,BG776573,BM127836,BM128375,BP325875,BQ002417,CR591406,CR600077,CR601665,CR609049,CR610474,CR618168,CR623337,DC421138,DQ499597 NP_004861,EAW90158,EAW90159,EAW90160,EAW90161,EAW90162,EAW90163,CAF86914,AAC39875,AAG43121,AAG23771,BAB55334,BAB71046,BAG52103,BAG59539,BAG60049,BAG61886,BAG61926,BAG37121,AAH01898,ABF54968,O75352,Q1HDL3,Q8WY80,Q96K24,Q96N63,Q9H3L2,ADQ33163 Hs.246381 CDGIF|FLJ14836|HBEBP2BPA|Lec35|My008|PP3958|PQLC5|SL15 HBeAg-binding protein 2 binding protein A|mannose-P-dolichol utilization defect 1 protein|suppressor of Lec15 and Lec35 glycosylation mutation homolog protein-coding 737285 MPDZ multiple PDZ domain protein 1580863 16192269,19420109,19255144,19175764,19071123,18378672,17672918,17081983,16452527,15364909,15316081,15312654,15164053,14702039,14499480,12477932,12403818,11802782,11689568,11358867,11150294,11018522,19483657,19615732,19874574,11000240,10967549,9537516,19913121,20628086 8777 NM_003829,AL161449,AL162386,AL353639,CH471071,AB210041,AF093419,AJ001319,AK058011,AK074721,AK091945,AK098775,AK294823,AK294976,AK307924,AK307988,AK316489,BC140793,BC144564,BU621500,CR936648,CX782625 NP_003820,CAI40490,CAI40491,CAI40492,CAI40493,CAI40494,CAI40495,CAH71899,CAH71900,CAI41236,CAI41237,CAI41238,CAI41239,CAI41240,EAW58704,EAW58705,EAW58706,BAE06123,AAC61870,CAA04680,BAG51991,BAG52447,BAC05409,BAG57936,BAG58047,BAH14860,AAI40794,AAI44565,CAI56786,O75970,AAI72387 Hs.169378 DKFZp781P216|FLJ25909|FLJ34626|FLJ90240|MUPP1 multi-PDZ domain protein 1|multiple PDZ domain protein protein-coding 1348832 MPE malignant proliferation, eosinophil 4348 736355 MPEG1 macrophage expressed 1 16344560,14702039,12477932,7888681 219972 NM_001039396,AP002358,CH471076,L20314,AK074166,AK095457,AK097211,AK097881,AW205154,BC104997,BC112230,DA946058 BAB84992,NP_001034485,EAW73839,AAA36324,BAG53544,AAI04998,AAI12231,Q14864,Q2M385 Hs.709439 MGC132657|MGC138435|MPG1 MPS1 protein|likely ortholog of mouse macrophage expressed gene 1|macrophage expressed gene 1|partial protein protein-coding 1348242 MPFD myopathy with fiber type disproportion 4349 731894 MPG N-methylpurine-DNA glycosylase 1580863,1358139 20873830,12016206,14761949,19616486,19864471,20201599,20226869,20347426,20522537,8016081,10854423,17353931,1645538,10583946,18029348,19237606,19219989,19183483,18839966,18706524,18270339,18191412,17029639,16341674,16195237,15616553,15489334,15302935,15247209,14761960,14688248,14567703,14555760,12820404,12477932,12077143,12014652,11157797,11106395,9790531,8475094,8318735,1924375,1874728,20574454,21063071 4350 NM_002434,NM_001015052,AE006462,AF499437,CH471112,DQ431198,Z69720,AK308654,AY258284,BC014991,BG823448,NM_001015054,BM796301,CR598824,CR600098,CR606356,CR612592,CR619346,L10752,M71215,M74905,M99626,S51033,X56528 NP_001015054,NP_002425,NP_001015052,AAK61213,AAM14628,EAW85870,EAW85871,EAW85872,ABD95906,CAA93540,CAI95610,AAP82229,AAH14991,AAF77073,AAA58369,AAA58627,AAB46421,AAB19537,CAA39875,P29372,Q1W6H1,Q5J9I4,ABM86838 Hs.459596 AAG|ADPG|APNG|CRA36.1|MDG|Mid1|PIG11|PIG16|anpg 3' end of the Mid1 gene, localized 68 kb upstream the humanzeta globin gene on 16p|3-alkyladenine DNA glycosylase|3-methyladenine DNA glycosidase|CRA36.1 (3-methyl-adenine DNA glycosylase)|DNA-3-methyladenine glycosylase|N-methylpurine-DNA glycosylase, MPG|OTTHUMP00000194908|alkyladenine DNA glycosylase|proliferation-inducing protein 11|proliferation-inducing protein 16 protein-coding 1316939 MPHOSPH10 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein is thought to be part of the U3 small nucleolar ribonucleoprotein complex, which is involved in rRNA processing. [provided by RefSeq] 1580863 9450966,12655004,17081983,15635413,15489334,14702039,12477932,12429849,11790298,8885239,16344560,18029348 10199 NM_005791,AC007881,CH471053,AK056862,AK310931,BC015158,BC041084,BC126389,CR590410,X98494,AI056034,DA867290 NP_005782,EAW99776,EAW99777,BAG51817,AAI26390,CAA67120,O00566 Hs.656208 CT90|MPP10|MPP10P OTTHUMP00000203603|U3 small nucleolar ribonucleoprotein protein MPP10|m phase phosphoprotein 10 protein-coding 1321401 MPHOSPH6 M-phase phosphoprotein 6 1580863 20379614,15231747,8885239,17081983,16396833,16169070,15635413,15489334,12477932,11719186,9373149,8125298,17207965 10200 NM_005792,AC138304,CH471114,AI831131,AK222667,AK314163,AW175781,BC005242,BC011020,BC029395,BC031017,BU595100,BU622913,CR611170,X98263 NP_005783,EAW95516,EAW95517,EAW95518,BAD96387,BAG36847,AAH05242,AAH11020,AAH29395,AAH31017,CAA66916,Q53HB4,Q8NHT4,Q99547,ADQ32393 Hs.344400 MPP|MPP-6|MPP6 M-phase phosphoprotein 6 protein-coding 1603305 MPHOSPH8 M-phase phosphoprotein 8 8885239,17081983,16583711,15489334,15057823,14702039,12559565,12477932,16344560,20871592 54737 NM_017520,AL354808,AL359457,CH471075,AJ293409,AK056785,AK092556,AK300258,AL832864,BC003542,BC017322,BC046214,CR622896,X98259,DA672302,R60056 NP_059990,CAI41000,CAI41002,CAI16671,EAX08228,EAX08229,EAX08230,BAB71284,BAG52572,BAH13245,CAI46172,AAH03542,AAH46214,CAA66912,Q99549 FLJ35237|HSMPP8|RP11-523H24.1|TWA3|mpp8 M-phase phosphoprotein 8|M-phase phosphoprotein, mpp|M-phase phosphoprotein, mpp8|two hybrid-associated protein 3 with RanBPM protein-coding 1313543 MPHOSPH9 M-phase phosphoprotein 9 1580863,2316985 8885239,14702039,20936779,19913121,20628086,12477932,19525953,19615732,19879194,20546594 2316985 10198 AC073857,CH471054,AK023016,AK091181,AK096541,AL096751,BC130440,BC144016,BC144017,BU070541,BX092492,NM_022782,X98258,CR610469 NP_073619,EAW98388,EAW98389,EAW98390,EAW98391,EAW98392,EAW98393,EAW98394,BAB14359,BAG52299,AAI30441,CAA66911,Q99550 Hs.577404 DKFZp434J034|FLJ12954|MPP-9|MPP9 M-phase phosphoprotein 9 protein-coding 1349436 MPI mannose phosphate isomerase Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. [provided by RefSeq] 1600452,1580863 8307007,16488169,15489334,14702039,12477932,12414827,12357336,12122025,11350186,11134235,10980531,9585601,9525984,9451038,9373149,8125298,1222586,341373,17207965,18029348,20628624 1600452 4351 NG_008921,AC125435,AF227218,CH471136,AF504648,AK096520,AK225149,AK292374,AK294030,AK301370,AK302354,BC017351,BC046357,BX648475,X76057,NM_002435 NP_002426,AAF37697,EAW99295,EAW99296,EAW99297,EAW99298,AAM28199,BAF85063,BAG57385,BAG62912,BAG63680,AAH17351,AAH46357,CAA53657,P34949,ADQ33060,Q8NHZ6 Hs.75694 CDG1B|FLJ39201|PMI|PMI1 mannose-6- phosphate isomerase|mannose-6-phosphate isomerase|phosphohexomutase|phosphomannose isomerase 1 protein-coding 1322330 MPL myeloproliferative leukemia virus oncogene In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq] 1600454,1580863 17956691,19274616,19469654,19483125,19521067,19560457,19643476,19728022,19996410,20111067,20113333,20113830,20151976,20166549,20232601,20304805,20331763,20410924,20508616,20485371,8202154,10077649,9766811,9122198,8639837,8541543,7534285,2550356,2175677,1608974,8020956,18029348,19372714,19351817,19341705,19302922,19261614,19196872,19194467,19175989,19099657,19097174,19036112,19029146,18754026,18687690,18669880,18566540,18528423,18519816,18487512,18464114,18451306,18422784,18297515,18295514,18250227,18174381,18040685,17920755,17920754,17709604,17666371,17658515,17644747,17540852,17507998,17408465,17408398,17379761,17157161,17107350,17052978,16868251,16834459,16470591,16454716,16088917,15951300,15899890,15741216,15647951,15452260,15307100,15269348,15210714,14995067,14764528,12200367,12145691,12091373,12010817,11961237,11784712,11133753,11071383,11054408,10979953,10971406,10918061,10517496,10391209,10224114,20529857,21174945,20520633,20890078,21051030 1600454 4352 NM_005373,NG_007525,AL139289,CH471059,U68159,U68160,U68161,U68162,DQ234353,M90102,M90103 AAA69971,NP_005364,CAB92756,CAI23380,EAX07103,EAX07104,EAX07105,AAB08424,AAB08425,ABB29982,AAA69972,P40238,Q308M1,Q5JUY5,AAI40299,AAI53093 Hs.82906 C-MPL|CD110|MPLV|TPOR TPO-R|myeloproliferative leukemia protein|proto-oncogene c-Mpl|thrombopoietin receptor protein-coding 1606403 MPN2 marapsin 2 12838346,12477932 339501 NM_183062,AL356323,AL731702,CH471098,AA398170,BC130400,BN000131 A1L453,NP_898885,CAH73485,CAI21074,EAW69820,AAI30401,CAD67593,ADR82933 Hs.97604 MGC163272|MPN2 marapsin 2|marapsin-2|serine protease 38|serine protease MPN2 protein-coding 1605915 MPND MPN domain containing 12477932,19615732 84954 NM_032868,NM_001159846,AC007292,CH471139,AI927937,AK027887,AK308468,BC032652,BX462788,CR600604,CR605933,CR610197,CR613172,CR618730 NP_116257,NP_001153318,AAD24592,AAD24593,EAW69230,EAW69231,EAW69232,EAW69233,BAB55432,AAH32652,Q8N594 Hs.321689 FLJ14981 MPN domain-containing protein protein-coding 1346384 MPO myeloperoxidase Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of netrophils. [provided by RefSeq] 1358499,1580863,2317406,2317971 20651370,20673504,20201999,20364135,2829220,10777476,10801811,8621627,10772654,2903767,19651119,19593802,19556446,19544176,19543083,19505917,19490915,19479063,19423521,19420105,19410253,19345674,19339270,19322015,19255975,19255063,16956579,16901848,16883063,16844322,16829688,16758302,16740002,16732739,16641309,16606792,16543247,16504169,16497665,16484808,16476719,16430221,16385446,16335952,16326702,16297214,16289072,16267254,16221222,16195240,16170238,16157195,16148002,16107886,16084535,15996936,15967795,15911707,15901995,15894800,15885363,15884126,15850382,15829318,15734083,15718477,15714076,15705913,15661916,15600254,15538122,15536330,15507771,15507770,15507769,15507760,15507759,15507754,15507753,15507752,15504976,15379210,15350145,15331175,15304260,15299090,15255951,15222689,15203186,15199549,15196853,15184258,15159316,15108282,15068388,15031357,15023809,15006595,14972011,14761515,14730210,14729580,14716779,14668325,14646692,14626895,14617020,14580687,12969520,12952835,12950060,12946561,12915675,12861032,12818404,12810834,12800195,12792137,12782337,12773517,12729191,12707270,12694338,12606047,12565898,12515618,12496043,12496042,12460800,12432558,12397651,12393699,12355548,12209361,12164325,12135010,12111688,12089442,12057865,12052532,12027420,11986950,11981455,11960308,11943609,11895912,11861298,11840286,11813987,11811524,11794452,11774269,11705390,11434421,11423389,11179831,11161635,11147929,11090610,11087769,10828600,10766826,9637725,9175709,9097926,8718890,8530055,8390465,8383257,8142659,8078496,8037771,7904599,7840679,7809065,7530510,3654979,3031585,3029127,2884926,2820530,2552418,2444596,2154223,1703177,1334087,1320128,20636397,20332596,20399194,20732340,19237222,17017121,15492293,9354683,20043647,20305551,20413430,18214807,18205184,18177875,18042261,17980933,17925548,17922231,17896805,17885617,17875305,17869258,17855424,17767014,17726014,17704068,17701359,17650507,17613595,17601350,17595772,17582430,17549373,17521322,17483704,17479404,17451207,17440118,17438335,17428572,17424838,17381162,17355643,17337886,17304047,17259657,17209550,17178637,17161406,17159117,17149600,17145829,17119198,17042493,19162321,19147137,19140875,19129321,19126404,19081093,19059911,19031316,19030913,19012698,18977241,18930040,18854777,18836923,18784359,18778866,18676870,18676680,18667997,18662591,18642288,18636124,18632753,18617697,18505072,18466756,18452102,18447907,18441517,18440308,18435917,18359301,18344624,18340529,18331758,18322643,18314009,18296681,18280811,18273043,18271379,18258609,18237195,20064972,11907569,11956078,12477932,19138806,19170196,19201174,19362143,19423540,19524564,19538950,19578796,19589271,19608745,19614918,19622717,19625176,19626395,19641039,19646343,19651670,19692168,19726691,19729473,19729601,19731237,19735726,19752340,19758957,19761988,19788922,19789190,19814685,19816870,19822138,19828014,19857655,19857676,19877306,19878569,19897513,19902075,19916937,19963114,20007081,20026093,20032816,20080069,20091863,20136960,20146436,20158910,20228064,20237496,20332087,20406964,20418356,20437850,20438785,20536280,20364045,20592714,19913121,20485444,20568015,20598694,20628086,20643115,20644561,20663217,20673159,20677014,20714866,19995403,21126969,20951227,20974816 1358499,2317406,2317971 4353 J02694,M19507,S56200,X04876,NG_009629,A08802,AC004687,CH471109,D14466,DQ088846,M17176,M19508,X15377,X64647,Z37728,BC130476,NM_000250,FB659828,FB659830 AAA59896,AAA59863,AAB25582,CAA28564,CAA28565,P05164,Q16771,ADR83396,AAI30477,NP_000241,CAA00809,EAW94470,EAW94471,EAW94472,EAW94473,BAA03362,AAY68218,AAA60346,AAA59864,AAA59865,CAA33438,CAA45918,CAA85783,CAS01769,CAS01770 Hs.458272 myeloperoxidase protein-coding 1347904 MPP1 membrane protein, palmitoylated 1, 55kDa Palmitoylated membrane protein 1 is the prototype of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 1 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq] 1580863 15952887,16344560,1310897,1713685,11256614,19144871,18952129,17584769,16741958,16189514,16169070,15489334,14702039,12477932,9373149,9305870,8824805,8125298,7822301,1301163 4354 DA074686,NG_015873,NM_001166460,NM_001166461,NM_001166462,BC002392,NM_002436,AC109993,CH471172,M87059,U39611,AK093702,AK223396,AK290246,AK303111,AK304538,AK310681,AK311541,AK312296,AK315957,AY423731,AY634686,CR605122,CR606052,CR610475,CR612951,CR624495,M64925 NP_001159932,NP_001159933,NP_001159934,NP_002427,EAW72655,EAW72656,EAW72657,EAW72658,EAW72659,EAW72660,AAA60060,AAD14835,BAD97116,BAF82935,BAG64217,BAG65337,BAG35223,BAH14328,AAS00494,AAV35469,AAH02392,AAA60059,Q00013,Q2TSB6,Q53F93,Q5J7V5,ABM82173,ABM85498 Hs.496984 AAG12|DXS552|DXS552E|EMP55|MRG1|PEMP 55 kDa erythrocyte membrane protein|OTTHUMP00000196176|aging-associated gene 12|erythrocyte membrane protein p55|migration-related gene 1|p55|palmitoylated erythrocyte membrane protein protein-coding 1346408 MPP2 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq] 1580863 7590743,8824795,12493773,15489334,12477932,11230166,9373149,8125298,12351654,19665017 4355 NM_005374,AC007993,CH471178,AK223560,AK294564,AK295858,AK299286,AK299321,AK299518,AK302793,AK309048,AK311166,AL136554,BC030287,CR612825,CR936598,CR936730 NP_005365,EAW51653,EAW51654,EAW51655,EAW51656,BAD97280,BAG57760,BAH12204,BAG61302,BAG61329,BAG61470,BAG63996,CAB66489,AAH30287,CAI56746,Q14168,ABM82603,ABM85788 Hs.514208 DKFZp686A06252|DKFZp686J2189|DKFZp761D0712|DLG2 MAGUK p55 subfamily member 2|discs large homolog 2|discs large, homolog 2 protein-coding 1343815 MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq] 1580863 8824795,12493773,16519681,16169070,13679854,12477932,11707406,16344560,17669239 4356 DA585178,NM_001932,AC003098,CH471178,AB209232,AK299535,AK309045,AK311368,AK313045,AM050144,AM050145,BC025743,BC035833,BC047017,BC056865,DA773958,DB357996,U37707,NR_003562 NP_001923,EAW51661,EAW51662,EAW51663,EAW51664,EAW51665,EAW51666,BAD92469,BAG61482,BAG35877,CAJ18313,CAJ18315,AAH47017,AAH56865,AAB36964,Q13368,Q59G77 Hs.396566 DLG3 MAGUK p55 subfamily member 3|OTTHUMP00000165326|discs large homolog 3|discs, large homolog 3|membrane protein palmitoylated 3 protein-coding 733195 MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 15914641,15558731,14702039,12477932,12384283,11586298,11414766,19807924,20379614 58538 AC007279,CH471063,NM_033066,AB053302,AB053303,AB053304,AF316032,AK131208,AK298589,AK298947,AK300622,BC132785,BC144206,BM999928,BX647162,BX648531,NG_012654 NP_149055,AAY15057,EAW70285,EAW70286,EAW70287,EAW70288,EAW70289,EAW70290,BAB69012,BAB69013,AAK71862,BAD18399,BAG60779,BAG61046,BAG62315,AAI32786,AAI44207,Q96JB8 Hs.63085 ALS2CR5|DLG6 MAGUK p55 subfamily member 4|OTTHUMP00000205933|OTTHUMP00000209441|OTTHUMP00000209442|OTTHUMP00000209443|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein|discs large homolog 6|discs, large homolog 6 protein-coding 1317631 MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains (Tseng et al., 2001 [PubMed 11311936]). MPP5 is a member of the p55-like MAGUK subfamily.[supplied by OMIM] 1580863 11256614,18029348,17920587,16678097,16381901,15914641,15863617,15558731,15489336,15489334,15475968,14702039,12771187,12545177,12527193,12477932,11927608,11311936,11230166,11076863,10753959,8619474,9110174,16737952,17584769,19615732,20237282,20833712 64398 NM_022474,AL135978,AL139785,CH471061,AF131764,AI245706,AK022677,AK098373,AK291240,AL832326,AL832578,AL832936,BC037966,BC053366,BC095485,BC129933,CR605794 NP_071919,EAW80930,BAB14172,BAC05295,BAF83929,CAD38620,CAD89937,CAH56281,AAH53366,AAH95485,AAI29934,Q4VBP4,Q658X5,Q8N3R9,CAL37477,CAL37737 Hs.652312 FLJ12615|PALS1 MAGUK p55 subfamily member 5|stardust protein-coding 1323497 MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM] 1580863 11311936,16192290,15592455,15489334,15231747,15024025,12853948,12690205,12477932,11812149,11719186,11230166,11110791,10753959 51678 NM_016447,AC005084,CH236948,CH471073,AF162130,AL136836,BC012034,BC023638,CR605092 NP_057531,AAQ96847,EAL24247,EAW93808,EAW93809,EAW93810,EAW93811,AAD45919,CAB66770,AAH23638,Q9NZW5,ABM83221,ABM86421 Hs.533355 PALS2|VAM-1|VAM1|p55T MAGUK p55 subfamily member 6|MAGUK protein p55T|OTTHUMP00000202005|OTTHUMP00000202006|OTTHUMP00000202007|VELI-associated MAGUK 1|protein associated with Lin7 2 protein-coding 1344792 MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) Membrane-associated guanylate kinases (MAGUKs) are important adaptor proteins involved in the assembly of protein complexes at sites of cell-cell contact. They are found in synapses, adherens junctions, and tight junctions. All MAGUKs contain at least 1 PDZ domain, an SH3 domain, and a GUK domain, and many contain 1 or 2 L27 domains, which are involved in multimerization of MAGUKs. MPP7 belongs to the p55 stardust subfamily of MAGUKs, which is named for a Drosophila gene required for establishment of cell polarity in the developing fly embryo (Bohl et al., 2007 [PubMed 17237226]).[supplied by OMIM] 737633 16385451,19615732,20379614,17332497,17237226,14719143,14702039,12477932,20702775,21116278 737633 143098 NM_173496,AL355501,AL390866,AL391423,CH471072,AK057360,AK130972,AK301592,AK315046,AL832380,BC038105,CR623672 NP_775767,CAI13640,CAI13641,CAI12708,CAI17345,EAW86045,EAW86046,EAW86047,BAG51907,BAG63081,BAG37526,AAH38105,Q5T2T1 Hs.499159 FLJ32798|RP11-218D6.5 MAGUK p55 subfamily member 7|OTTHUMP00000019377|OTTHUMP00000019378 protein-coding 1319383 MPPE1 metallophosphoesterase 1 19328558,16344560,15252450,14702039,12477932,11978971,9373149,8125298,19837036,19859903 65258 AF363483,AP001269,CH471113,EF444996,AF289560,AF363484,AK021647,AK023052,AK054639,AK223450,AK309948,AL833636,BC002877,BC073994,BG701552,CR591893,CR594517,CR594849,CR595199,CR611565,CR623066,NM_023075,DA581276,DQ786245 NP_075563,AAM00277,AAM00278,EAX01561,EAX01562,EAX01563,EAX01564,EAX01565,EAX01566,EAX01567,EAX01568,EAX01569,EAX01570,EAX01571,EAX01572,ACA06017,ACA06018,ACA06019,AAL55744,AAM00279,BAB13863,BAB14378,BAG51403,BAD97170,AAH02877,AAH73994,Q53F39 Hs.712666 PGAP5 metallo phosphoesterase|metallophosphoesterase 1|post-GPI attachment to proteins factor 5 protein-coding 1344313 MPPE1P metallophosphoesterase 1 pseudogene 386673 1317908 MPPED1 metallophosphoesterase domain containing 1 9266672,8666403,20379614,16344560,15489334,15461802,12477932,10591208 758 BX890592,NM_001044370,AL049708,AL096759,AL096761,BX546033,CH471138,CR377231,CU137653,Z82172,AK289774,AK290541,AK294912,AK295077,AK297276,AK299516,AK299531,AK316008,BC028035,CT841512,DA773758,U84894 NP_001037835,CAQ08121,CAQ08089,EAW73305,EAW73306,EAW73307,CAQ06857,BAF82463,BAF83230,BAG57999,BAH11965,BAG59748,BAG61468,BAG61479,BAH14379,AAH28035,CAJ86442,AAC51673,O15442,Q20WK9,CAK54643,CAK54942 Hs.159538 239AB|C22orf1|FAM1A|FLJ50009|FLJ54633|FLJ59965|FLJ78907|MGC88045 OTTHUMP00000197847|adult brain protein 239|chromosome 22 open reading frame 1|metallophosphoesterase domain-containing protein 1 protein-coding 1347972 MPPED2 metallophosphoesterase domain containing 2 This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq] 7527372,19240061,16344560,15489334,20379614,12477932,9266672,8889549,8666403,17207965 744 NM_001145399,NM_001584,AL136088,AL353699,AL356240,CH471064,AA020012,AA916486,AB209163,AK309809,AK314833,BC031582,DB214603,U57911 NP_001138871,NP_001575,EAW68256,EAW68257,BAD92400,AAH31582,AAC50564,Q15777,Q59GE6,ADQ31648 Hs.289795 239FB|C11orf8 fetal brain protein 239|metallophosphoesterase MPPED2|metallophosphoesterase domain-containing protein 2 protein-coding 736941 MPRIP myosin phosphatase Rho interacting protein 16243315,17353931,18636174,17081983,16257966,15545284,15489334,15469989,15324660,14702039,14506264,12477932,10048485,8889548,9199174,15778465 23164 NM_201274,NM_015134,AC055811,AC079111,CH471196,AB020671,AB098507,AB189741,AB362572,AB362573,AJ844625,AK025229,AK025604,AK092287,AL834513,AY296247,BC009982,BC012426,BC014102,BC021058,BC021070,BC030255,BC050323,BC063588,BC075847,BC105987,BC136479,BU527795,CF126021,D23673 NP_958431,NP_055949,EAW55721,EAW55722,EAW55723,EAW55724,BAA74887,BAC78198,BAD89507,BAF81537,BAF81538,CAH59751,BAC03851,CAD39169,AAQ63176,AAH09982,AAH12426,AAH75847,AAI05988,AAI36480,Q5ZEZ6,Q6WCQ1,Q8N236,Q96EE5,Q9Y6X7 Hs.462341 KIAA0864|M-RIP|MRIP|RHOIP3|RIP3|p116Rip Rho interacting protein 3|myosin phosphatase Rho-interacting protein|myosin phosphatase-Rho interacting protein|rho interacting protein 3|rho-interacting protein 3 protein-coding 735977 MPST mercaptopyruvate sulfurtransferase This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq] 1580863 9070219,18029348,16545926,15489334,15461802,14702039,12477932,10591208,1953758,19615732,19695240,20877624 4357 CR601393,CR608282,CR608639,CR608956,CR610183,CR611886,CR614029,CR614224,CR614516,CR615675,CR619501,CR619875,CR621116,CR622714,CX872464,DB450861,X59434,CR601092,NR_024038,NM_021126,NM_001130517,NM_001013436,CH471095,DQ211531,DQ211532,DQ211533,Z73420,AB208824,AK055733,AW778940,BC003508,BC009450,BC016737,BC018717,BI463699,BI597227,BQ072744,BT019636,CR456523,CR541712,CR593951,CR594315,CR595674,CR597036,CR598953 CAA42060,P25325,Q2VEU0,Q2VEU1,Q59HD5,Q6FHN9,CAK54554,CAK54853,NP_066949,NP_001123989,NP_001013454,EAW60133,EAW60134,EAW60135,ABB16334,ABB16335,ABB16336,CAA97763,BAD92061,BAG51564,AAH03508,AAH16737,AAH18717,AAV38442,CAG30409,CAG46513,CAQ08661 Hs.248267 MGC24539|MST|TST2 3-mercaptopyruvate sulfurtransferase|human liver rhodanese protein-coding 1353525 MPV17 MpV17 mitochondrial inner membrane protein This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq] 1580863 19520594,20074988,20843780,12471025,8427063,8281143,7564095,12477932,16582910,19012992,18695062,18329934,18261905,17694548,16909392,16631601,16582907,15815621,15489334,14702039,20877624 4358 AAB25210 HQ206001,HQ206002,HQ206003,HQ206004,HQ206005,HQ206006,HQ206007,HQ206008,HQ206009,HQ206010,HQ206011,HQ206012,HQ206013,HQ206014,HQ206015,HQ206016,HQ206017,HQ206018,HQ206019,HQ206020,HQ206021,HQ206022,HQ206023,HQ206024,HQ206025,HQ205986,HQ205987,HQ205988,HQ205989,HQ205990,HQ205991,HQ205992,HQ205993,HQ205994,HQ205995,HQ205996,HQ205997,HQ205998,HQ205999,HQ206000,NM_002437,NG_008075,AC013413,AF038633,CH471053,CQ868548,S68430,AF088036,AK093305,AK123373,BC001115,BC016289,BG714998,BI602840,CR604090,CR607626,X76538 ADP91854,ADP91855,ADP91856,ADP91857,ADP91858,ADP91859,ADP91860,ADP91861,ADP91862,ADP91863,ADP91864,ADP91865,ADP91866,ADP91867,ADP91868,ADP91869,ADP91870,ADP91871,ADP91875,ADP91876,ADP91877,ADP91872,ADP91873,ADP91874,ADP91878,ADP91879,ADP91880,ADP91881,ADP91882,ADP91883,ADP91884,ADP91885,ADP91886,ADP91887,ADP91888,ADP91889,ADP91890,ADP91891,ADP91892,ADP91893,NP_002428,AAY24298,AAC24205,EAX00597,EAX00598,EAX00599,EAX00600,EAX00601,EAX00602,EAX00603,EAX00604,CAH33966,AAD14014,AAH01115,AAH16289,CAA54047,AAB25210,P39210,Q9UPC7,ABM83205,ABM86405 Hs.75659 MTDPS6|SYM1 Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome|OTTHUMP00000122591|OTTHUMP00000201076|OTTHUMP00000201077|OTTHUMP00000201081|OTTHUMP00000201082|OTTHUMP00000201084|OTTHUMP00000201085|mpv17 transgene, murine homolog, glomerulosclerosis|protein Mpv17 protein-coding 1606418 MPV17L MPV17 mitochondrial membrane protein-like 16341674,14702039,12477932,16631601 255027 NM_001128423,NM_173803,AC137803,AC140504,CH471226,AK096918,AK293380,BC061514,BM838624,DQ004255,DQ004256 NP_001121895,NP_776164,EAW53914,EAW53915,BAC04895,BAG56892,AAH61514,AAY58892,AAY58893,Q2QL34 Hs.720673 FLJ39599|MGC70356|MLPH1|MLPH2|MPV17L1 M-LP homolog|M-LPH|Mpv17-like protein type 1|Mpv17-like protein type 2|mpv17-like protein protein-coding 1603190 MPV17L2 MPV17 mitochondrial membrane protein-like 2 14702039,12477932,20877624 84769 CR623978,BG740168,NM_032683,AC068499,CH471106,AF320622,AF416712,AK094091,BC005064,BC028146,BC093008 Q567V2,NP_116072,EAW84667,EAW84668,EAW84669,EAW84670,EAW84671,AAL30173,AAL16806,BAG52814,AAH05064,AAH93008 Hs.515254 FKSG24|MGC110861|MGC12972 mpv17-like protein 2 protein-coding 737128 MPZ myelin protein zero This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 as other polyneuropathies. [provided by RefSeq] 1358504,1358513,1580863 8630052,7762451,7694726,7688964,7550231,7530550,7530295,7527371,7518101,7511317,7509228,7505151,7504284,7503936,6099985,3467805,1719967,8797476,8664899,20456450,20516806,17602703,16856127,12845552,8816708,7693129,7506095,7693130,19293842,19259128,18663734,18422810,18337304,18209201,17940173,17825553,17663472,17143884,17142269,17030746,16775239,16543539,16488608,16414078,16398147,16344560,16279991,16198109,16162811,15729519,15596778,15555916,15489334,15326256,15261887,15249646,15241803,15184631,15159512,15050444,15036333,14638973,12953275,12948789,12940837,12911457,12497641,12477932,12477701,12402337,12221176,12211648,12207932,11835375,11673479,11545686,11445635,11438991,11437164,11080237,10965800,10923043,10737979,10553995,10406984,10329755,10214757,10212299,10071056,9888385,9633821,9595994,9222756,9217235,9187667,8990016,8844219,8835320,20544920,14711881,15094849,16169070,19475438,19882637,19906531,19928689,19950375,20215982,7514564 1358504,1358513 4359 CR590470,D10537,DB210759,S66705,NG_008055,AL592295,CH471121,D14720,L24893,U10018,Z31718,AK313555,BC006491,BF509916,BT006765,CD515605,NM_000530,CD515400 BAA01395,AAB28708,P25189,Q14902,ABM86811,ABW03829,NP_000521,CAH70270,EAW52605,EAW52606,BAA03540,AAA20656,AAA18981,CAA83513,BAG36330,AAH06491,AAP35411 Hs.591486 CHM|CMT1|CMT1B|CMT2I|CMT2J|CMT4E|CMTDI3|DSS|HMSNIB|MPP|P0 Charcot-Marie-Tooth neuropathy 1B|myelin peripheral protein|myelin protein P0|myelin protein zero|myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) protein-coding 1343477 MPZL1 myelin protein zero-like 1 1580863 9792637,10681522,19064610,18568953,16710414,16344560,16303743,15588985,15489334,15231747,12975309,12684038,12477932,12410637,12107410,12075424,11751924,16702974,17207965,19536175,20379614 9019 BE616859,BF528837,BT019542,BU155202,CA397666,CD556632,CD557072,CR542160,CR604001,DA725074,BC019890,NM_003953,NM_024569,NM_001146191,AF478448,AL356532,CH471067,Z99943,AF087020,AF092424,AF092425,AF095726,AF095727,AF181660,AF239756,AF478447,AI635633,AK024700,AK075334,AK291249,AK297112,AK307250,AK315546,AL035302,AL035308,AW292498,AY359019,BC000984,BC007881 AAH19890,AAV38349,CAG46957,O95297,Q5U0H8,Q9UEL4,Q9UEL6,NP_003944,NP_078845,NP_001139663,AAO14646,AAO14647,CAC36033,EAW90800,EAW90801,EAW90802,EAW90803,CAI20143,CAI20144,AAC72231,AAD55346,AAD55347,AAF00083,AAF00084,AAF00621,AAF63499,AAO14645,BAB14967,BAF83938,BAH12501,BAG37924,CAA22907,CAA22913,AAQ89378,AAH07881,ADQ31838,Q8WUP4 Hs.493919 FLJ21047|MPZL1b|PZR|PZR1b|PZRa|PZRb OTTHUMP00000032521|immunoglobulin family transmembrane protein|myelin protein zero-like protein 1|protein zero related|protein zero-related protein-coding 1316244 MPZL2 myelin protein zero-like 2 Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 9585423,15489334,17207965,12477932,12975309,16344560 10205 NM_144765,AP002800,CH471065,AF030455,AF275945,AF304447,AK290326,AY359061,BC017774,CR590568,CR626217,NM_005797,AW073724,DA163069 NP_005788,NP_658911,EAW67358,EAW67359,AAC39762,AAF87240,AAG23183,BAF83015,AAQ89420,AAH17774,O60487,ADQ32240 Hs.116651 EVA|EVA1 epithelial V-like antigen 1|myelin protein zero-like protein 2 protein-coding 1601712 MPZL3 myelin protein zero-like 3 19054061,17273165,15489334,15340161,14702039,12975309,12477932 196264 AP002800,CH471065,AK095399,AK289390,AK296951,AK304292,AK310966,AY358626,BC008810,BC031223,BC113586,BC143897,NM_198275 EAW67357,BAG53045,BAF82079,BAG59497,BAG65150,AAQ88989,AAI13587,AAI43898,NP_938016,Q6UWV2,ADR83356 Hs.15396 myelin protein zero-like protein 3 protein-coding 1343564 MR1 major histocompatibility complex, class I-related 1580863 7624800,19416870,18068122,12794138,12477932,11019920,9784382,9780177,9373149,9325151,8125298,14702039,19706888,19760593,20237496 3140 CR602405,U22963,AK056155,CR600792,DC297418,NM_001194999,NM_001195000,NM_001195035,AF039526,NM_001531,AF073485,AF223407,AL356267,CH471067,AF010446,AF010447,AF031469,AJ249778,AK222910,AK290374,AK304645,BC012485 AAC50174,Q95460,Q9MY23,Q9TQB3,NP_001181928,NP_001181929,NP_001181964,AAD02172,NP_001522,AAC72900,AAF40170,CAH72302,CAH72303,CAH72304,CAH72305,EAW91095,EAW91096,EAW91097,EAW91098,AAD01442,AAD01443,AAD01933,CAB77667,BAD96630,BAF83063,BAG65423,AAH12485 Hs.13500 FLJ31593|HLALS MHC class I-like antigen MR-1|MHC class I-related gene protein|MHC class-I related-gene protein|class I histocompatibility antigen-like protein|major histocompatibility complex class I-related gene protein|major histocompatibility complex, class I-like sequence protein-coding 1603024 MRAP melanocortin 2 receptor accessory protein 20427498,19329486,18981183,18818285,18077336,17893271,17456795,15654338,15489334,12036298,12477932,12054497,19558534,19903795 56246 NM_206898,NM_178817,AP000266,CH471079,AF454915,AF454916,AF483549,AY079152,BC062721,NG_016234 ADR82710,NP_996781,NP_848932,EAX09878,EAX09879,EAX09880,AAL51048,AAL51049,AAL86908,AAL80042,AAH62721,Q8TCY5 Hs.584940 B27|C21orf61|FALP|FGD2|GCCD2 fat cell-specific low molecular weight protein|fat tissue-specific low MW protein|melanocortin-2 receptor accessory protein protein-coding 1320449 MRAP2 melanocortin 2 receptor accessory protein 2 20371771,18029348,19329486,18981183,15654338,15489334,14702039,14574404,12477932,17207965 112609 NM_138409,AL161621,CH471051,AJ420596,AK090775,AK292736,AK307078,BC010003,BC039855,BU629097,CR609200 NP_612418,CAI15045,EAW48646,BAC03517,BAF85425,AAH10003,AAH39855,Q96G30,ADQ32102 Hs.370055 C6orf117|RP11-51G5.2|bA51G5.2 melanocortin-2 receptor accessory protein 2 protein-coding 733433 MRAS muscle RAS oncogene homolog Members of the RAS superfamily of GTP-binding proteins, which includes MRAS, are membrane-anchored, intracellular signal transducers responsible for a variety of normal cellular functions. They are oncogenically activated in a significant fraction of tumors.[supplied by OMIM] 1580863 9400994,10477695,10934204,10446149,9395237,19198612,18628988,17538012,17143285,15489334,15031288,14702039,12477932,12138204,11857081,11524421,10803462,10498616,20738937,20971364 22808 BC017733,NM_001085049,AC022337,AC022497,CH471052,AF022080,AF043938,AF493918,AK056337,AK091633,AK123833,AK124954,AK295640,AK316071,NM_012219,BC035939,BC047101,BC047690,BI546150,BT020057,CR542067,CR590782 NP_036351,NP_001078518,EAW79068,EAW79069,EAW79070,EAW79071,AAC52085,AAD02287,AAM12632,BAG54117,BAG58512,BAH14442,AAH17733,AAV38860,CAG46864,O14807,Q6FGP0,Q8WVM9,AAI56846 Hs.527021 FLJ42964|M-RAs|R-RAS3|RRAS3 OTTHUMP00000216884|OTTHUMP00000216886|muscle and microspikes RAS|muscle and microspikes ras|ras-related protein M-Ras|ras-related protein R-Ras3 protein-coding 1319655 MRC1 mannose receptor, C type 1 The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment. This gene is in close proximity to MRC1L1. The gene loci including this gene, MRC1L1, as well as LOC340843 and LOC340893, consist of two nearly identical, tandemly linked genomic regions, which are thought to be a part of a duplicated region. [provided by RefSeq] 1580863 16385451,19196802,19403625,19772890,19902202,20035344,2373685,18029348,1294118,19224860,18353434,18279703,17502612,17360361,17020928,16203868,16000387,15767290,15190005,15155616,15042510,14568928,12477932,12368450,11841552,11715017,11120831,10779515,9677318,9038177,8940052,8001982,20139978,20554962,3611070,2258707,1730714,17077296,16672549,16547227,15955449,15047828,16615932,15637102,20610655,21029423 4360 EF444997,AC069023,AL928729,M93192,M93193,M93194,M93195,M93196,M93197,M93198,M93199,M93200,M93201,M93202,M93203,M93204,M93205,M93206,M93207,M93208,M93209,M93210,M93211,M93212,M93213,M93214,M93215,M93216,M93217,M93218,M93219,M93220,M93221,AK297044,BC016003,BU198859,DQ663787,J05550,X55635,NM_002438,AL139238 ACA06020,Q0Z8D6,NP_002429,CAH70733,AAA60389,BAG59571,ABG47462,AAA59868,P22897 Hs.75182 CD206|CLEC13D|MMR C-type lectin domain family 13 member D|macrophage mannose receptor 1 protein-coding 1345928 MRC1L1 mannose receptor, C type 1-like 1 This gene encodes a type I membrane receptor protein highly related to the mannose receptor C type 1 protein (MRC1). The two genes are located near each other on chromosome 10 in a region thought to represent a segmental duplication. [provided by RefSeq] 18029348,12477932,20139978 414308 NM_001009567,AL139238,AL928580,BX255924,BC142642,BC146838,CR601686 NP_001009567,CAH70872,CAH71176,CAI15339,AAI42643,AAI46839,Q5VSK2 Hs.461247 CLEC13DL|bA541I19.1 C-type lectin domain family 13 member D-like|macrophage mannose receptor 1-like protein 1 protein-coding 1320297 MRC2 mannose receptor, C type 2 MRC2 is a recycling endocytic receptor that functions in cell motility and remodeling of the extracellular matrix by promoting cell migration and uptake of collagens for intracellular degradation (Wienke et al., 2007 [PubMed 17974964]).[supplied by OMIM] 1580863 17974964,17189524,14702039,14684825,12972549,12952933,12668656,12645947,12477932,12399458,12244146,12068012,11903048,11120831,10683150,10636902,9734811,8702911,16547227,15955449,15047828,16615932,19861500,19584075,20339555 9902 AC080038,CH471109,AB014609,AF107292,AF134838,AK093230,AY429551,BC032763,BC146647,BC150212,BC153884,BX111813,CR623977,NM_006039 NP_006030,EAW94341,EAW94342,BAA31684,AAF14192,AAD30280,BAG52674,AAI46648,AAI50213,AAI53885,Q9UBG0 Hs.7835 CD280|CLEC13E|ENDO180|FLJ35911|KIAA0709|UPARAP C-type lectin domain family 13 member E|C-type mannose receptor 2|UPAR-associated protein|endocytic receptor (macrophage mannose receptor family)|endocytic receptor 180|macrophage mannose receptor 2|urokinase plasminogen activator receptor-associated protein|urokinase receptor-associated protein|urokinase-type plasminogen activator receptor-associated protein protein-coding 1344886 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863,1578504,2317733,2317740,2317737,2317721,2317736,2317734,2300250,2317738,2317722 20224574,19714462,20087742,15790808,15723659,15653682,15574463,15489334,15456891,15337312,15319296,15302935,15269180,15234984,15195510,15180989,15048091,15047855,15026416,14702039,14690447,14684699,14657032,12660252,12607005,12607003,12477932,12419185,12124628,11877377,11850399,11371508,11371344,11238951,11196167,11060040,10888888,10783165,10612394,10608806,10508516,10426999,8756642,11504724,18458108,12679336,14519663,15100233,11353843,15806145,15758953,9651580,10802669,9590181,9705271,8530104,9931460,18029348,19383352,19351817,19244322,19197236,19064565,19124506,18950845,19064572,18830935,18829552,18652530,18638378,18632984,18596698,18553220,18469862,18373977,18285453,18256278,18234271,18177684,18040525,18025084,17932350,17898048,17715134,17700070,17694070,17693401,17591703,17534377,17526493,17477953,17349953,17202845,17169801,17081983,16948520,16905549,16788144,16431910,16417627,16327781,16254336,16163361,16051665,15970667,15937485,15864295,12447395,15149599,15917200,18212065,19270065,19573080,19584272,19586055,19609304,19615732,19633668,19638463,19690177,19744924,19773279,19862546,19910469,19917125,19950226,20003485,20010693,20164540,20496165,20522537,20682289,20843819,20610542,20813000,21077165 1578504,2317733,2317740,2317737,2317721,2317736,2317734,2300250,2317738,2317722 4361 NM_005591,NG_007261,AF303395,AP000765,AP000786,AY584241,CH471065,AF022778,NM_005590,AF073362,AK095388,AK308318,BC005241,BC017823,BC063458,BF574168,BT006730,CR600174,U37359 NP_005581,NP_005582,AAK18790,AAS79320,EAW66930,EAW66931,EAW66932,EAW66933,EAW66934,AAD10197,AAC36249,BAG53039,AAH05241,AAH17823,AAH63458,AAP35376,AAC78721,P49959,Q05D78,Q9BS79 Hs.192649 ATLD|HNGS1|MRE11|MRE11B AT-like disease|DNA recombination and repair protein|MRE11 homolog 1|MRE11 homolog A|double-strand break repair protein MRE11A|endo/exonuclease Mre11|meiotic recombination 11 homolog 1|meiotic recombination 11 homolog A protein-coding 1347395 MRE11B MRE11 meiotic recombination 11 homolog B (S. cerevisiae) 11371508,9931460,9651580,8530104 4362 NG_001157,AC091607,AC125607,AF307006,NG_025648 hMRE11B pseudo 1604338 MREG melanoregulin 15550542,14702039,12477932,17207965,20463177 55686 NM_018000,AC010686,AC093382,CH471063,AF068290,AK000978,BC032747,BC082990,BQ928130,CA843296,CR604344,CX781801 NP_060470,AAY14656,AAY14719,EAW70554,EAW70555,EAW70556,AAF65179,BAA91453,AAH32747,Q8N565,ADQ32619,AAH82990 Hs.714977 DSU|FLJ10116|MGC90296|WDT2 OTTHUMP00000206794|OTTHUMP00000206795|OTTHUMP00000206796|dilute suppressor protein homolog|melanoregulin|whn-dependent transcript 2 protein-coding 1606988 MRFAP1 Mof4 family associated protein 1 20108251,11500496,14506250,17353931,17008723,15367658,14702039,12477932,12397079,16407074 93621 NM_033296,AC093323,AF116272,CH471131,AK057736,AK074496,AK123360,AK129651,AK300242,AK303974,BC022797,CR457144,CR590171,CR591005,CR593285,CR598023,CR598654,CR603436,CR610015,CR610581,CR611057,CR612817,CR614661,CR614739,CR614780,CR615114,CR616052,CR616281,CR616595,CR617575,CR618277,CR619436,CR619943,CR620474,CR620538,CR624612,CR624889 NP_150638,AAD38498,EAW82386,EAW82387,BAG51962,BAG53894,BAG62009,BAG64895,AAH22797,CAG33425,Q9Y605,ABM83719,ABM87039 Hs.406590,Hs.719546 PAM14|PGR1 MORF4 family-associated protein 1|Mof4 family associated protein 1|OTTHUMP00000155159|OTTHUMP00000217763|T-cell activation protein|protein associated with MRG of 14 kDa|protein associated with MRG, 14 kDa protein-coding 1605595 MRFAP1L1 Morf4 family associated protein 1-like 1 16189514,12477932,17207965 114932 NM_203462,AC093323,CH471131,AF155654,AF258591,AK312676,BC008087,BC066897,BX397546,CR590278,CR592386,CR592660,CR595817,CR597377,CR598333,CR600302,CR602726,CR603188,CR607295,CR618665,CR623294,W79582 NP_982287,EAW82383,AAF67011,AAG23794,BAG35557,AAH08087,AAH66897,Q96HT8,ADQ32432 Hs.593159,Hs.695408 MGC9651|PP784 MORF4 family-associated protein 1-like 1 protein-coding 1344076 MRGPRD MAS-related GPR, member D 737883 15037633,12909716,12044878,11551509,18636314 737883 116512 NM_198923,AB065786,AB083627,AP000808,AB154410,AY427820 NP_944605,BAC06005,BAB89340,BAD20638,AAR05120,Q8TDS7,AAI46428,AAI56661 Hs.527802 MRGD|TGR7 G-protein coupled receptor TGR7|beta-alanine receptor|mas-related G protein-coupled MRGD|mas-related G-protein coupled receptor member D protein-coding 1344531 MRGPRE MAS-related GPR, member E 15489334,12679517,12477932,11551509 116534 NM_001039165,AC109309,AK293940,AY255572,BC104889,BC112203,DC309261 NP_001034254,BAG57317,AAO85084,AAI04890,AAI12204,Q86SM8,ADR82927 Hs.706565 GPR167|MGC138408|MRGE G protein-coupled receptor 167|G-protein coupled receptor 167|OTTHUMP00000013406|mas-related G protein-coupled MRGE|mas-related G-protein coupled receptor member E protein-coding 1346995 MRGPRF MAS-related GPR, member F 737633,1580863 16303743,15489334,15342556,14702039,12477932,11551509,11181995,2109324 737633 116535 NM_145015,NM_001098515,AB065785,AC019124,AP003071,CH471076,CS051435,AA936120,AK075450,AK075492,AK098317,AK122669,AK131068,AK293469,AL049451,BC016964,BP376260,CR619015 NP_659452,NP_001091985,BAC45261,EAW74730,EAW74731,EAW74732,CAI72211,BAC11628,BAC11649,BAC05284,BAG53655,BAG56962,AAH16964,Q8IXE2,Q8N2G2,Q8N7J6,Q96AM1 Hs.118513,Hs.602397 DKFZp586B2122|FLJ16111|FLJ29034|FLJ40998|FLJ53714|GPR140|GPR168|MGC21621|MRGF|RTA G protein-coupled receptor 140|G protein-coupled receptor 168|G protein-coupled receptor MrgF|G-protein coupled receptor 140|G-protein coupled receptor 168|mas-related G protein-coupled MRGF|mas-related G-protein coupled receptor member F|mas-related gene F protein|seven transmembrane helix receptor protein-coding 1351155 MRGPRG MAS-related GPR, member G 15164054,12679517 386746 NM_001164377,AC109309,AY255583 NP_001157849,AAO85095,Q86SM5 Hs.151154 GPR169|MRGG G protein-coupled receptor 169|G protein-coupled receptor MRGG|G-protein coupled receptor 169|mas-related G-protein coupled receptor member G protein-coding 1605552 MRGPRX1 MAS-related GPR, member X1 15489334,12477932,12044878,11850634,11551509,15782186 259249 NM_147199,AB065846,AB083628,AC023078,AF474989,AF474990,AY042213,CH471064,BC096835,EU883578 NP_671732,BAC06064,BAB89341,AAL86880,AAL86881,AAK91804,EAW68360,AAH96835,Q96LB2,ACG60652 Hs.711459 GPCR|MRGX1|SNSR4 G protein-coupled receptor MRGX1|G protein-coupled receptor SNSR3|mas-related G-protein coupled receptor member X1|sensory neuron-specific G-protein coupled receptor 3/4 protein-coding 1603280 MRGPRX2 MAS-related GPR, member X2 12915402,18636314,15862286,15489334,12477932,12044878,11551509 117194 AY651143,AY651144,AY651145,AY651146,AY651147,AY651148,AY651149,AY651150,AY651151,AY651152,AY651153,AY651154,AY651155,AY651156,AY651157,AY651158,AY651159,AY651161,AY845175,AY845176,CH471064,EU883579,BC063450,AB065811,NM_054030,AB083626,AC027026,AY042214,AY651130,AY651131,AY651132,AY651133,AY651134,AY651135,AY651136,AY651137,AY651138,AY651139,AY651140,AY651141,AY651142,AY651160 AAW70056,AAW70057,AAW70058,AAW70059,AAW70060,AAW70061,AAW70062,AAW70063,AAW70064,AAW70065,AAW70066,AAW70067,AAW70068,AAW70069,AAW70070,AAW70071,AAW70072,AAW70055,AAW70073,AAW70074,AAW70082,AAW70083,EAW68359,ACG60653,AAH63450,Q96LB1,ACE87326,ACE86644,BAC06030,NP_473371,BAB89339,AAK91805,AAW70043,AAW70044,AAW70045,AAW70046,AAW70047,AAW70048,AAW70049,AAW70050,AAW70051,AAW70052,AAW70053,AAW70054 Hs.350566 MRGX2 G protein-coupled receptor MRGX2|mas-related G-protein coupled receptor member X2 protein-coding 1603279 MRGPRX3 MAS-related GPR, member X3 11850634,11551509,16284629,15809047,15489334,12477932 117195 NM_054031,AC090099,AF474987,AF474988,AY042215,CH471064,BC067292,EU432126 NP_473372,AAL86878,AAL86879,AAK91806,EAW68417,AAH67292,ABY87925,Q96LB0 Hs.380177 GPCR|MRGX3|SNSR1|SNSR2 G protein-coupled receptor MRGX3|G protein-coupled receptor SNSR1|G protein-coupled receptor SNSR2|mas-related G-protein coupled receptor member X3|mas-related GPCR member X3|sensory neuron-specific G-protein coupled receptor 1/2 protein-coding 1603278 MRGPRX4 MAS-related GPR, member X4 12477932,11850634,11551509,15489334,20379614 117196 AC090099,NM_054032,AF474991,AF474992,AY042216,CH471064,BC095509,BC107099,BC107100,CN835944 NP_473373,AAL86882,AAL86883,AAK91807,EAW68416,AAH95509,AAI07100,AAI07101,Q96LA9 Hs.632138 GPCR|MGC129753|MGC129754|MRGX4|SNSR6 G protein-coupled receptor MRGX4|G protein-coupled receptor SNSR5|G protein-coupled receptor SNSR6|mas-related G-protein coupled receptor member X4|sensory neuron-specific G-protein coupled receptor 5/6 protein-coding 1604271 MRI1 methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) 16189514,16381901,15489336,15231748,15215245,12975309,12477932,11256614,11230166,11076863,17207965,19447967 84245 NM_032285,AC008686,CH471106,AF318324,AL834276,AY358176,BC001703,BM147362,NM_001031727 ADQ32721,NP_001026897,NP_115661,EAW84369,EAW84370,EAW84371,AAL55831,CAD38951,AAQ88543,AAH01703,Q8WYX2,Q9BV20,CAL37494,CAL38102,ACE87595,ACE86908 Hs.439370 MGC3207|MTNA|Ypr118w M1Pi|MTR-1-P isomerase|S-methyl-5-thioribose-1-phosphate isomerase|mediator of RhoA-dependent invasion|methylthioribose-1-phosphate isomerase|translation initiation factor eIF-2B subunit alpha/beta/delta-like protein protein-coding 1605341 MRM1 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 15489334,14702039,12477932,9373149,17207965,16712791,8125298,20877624 79922 NM_024864,AC003042,CH471199,AK026231,AK225449,AK292307,BC009416,BC072411,CB137408,CR457357,CR601982,CR607365,CR616141,CR618401,CR622648 NP_079140,EAW57571,EAW57572,BAB15401,BAF84996,AAH09416,AAH72411,CAG33638,Q6IN84,ADQ32009 Hs.194864 FLJ22578 mitochondrial large ribosomal RNA ribose methylase|rRNA methyltransferase 1, mitochondrial protein-coding 1342837 MRO maestro This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 737633,1580863 16344560,15489334,12889070,12477932,11401430,14702039,17207965 737633 83876 NM_001127175,NM_001127176,NM_031939,AC015864,CH471096,AB042647,AI479272,AI829586,AK054702,AK294757,AK295666,AL705398,BC029860,DA416200,DB473056,DC333169,DC403805,NM_001127174 NP_001120647,NP_001120648,NP_114145,EAW62978,EAW62979,BAB40981,BAB70797,BAH11871,BAH12148,AAH29860,Q9BYG7,NP_001120646,ADQ31893 Hs.30495 B29|C18orf3|FLJ30140 OTTHUMP00000163544|beside the Ma29 deletion|male-specific transcription in the developing reproductive organs|protein maestro protein-coding 1343975 MROS Melkersson-Rosenthal syndrome 7923865 8011 1321750 MRP63 mitochondrial ribosomal protein 63 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq] 20877624,15489334,12706105,12477932,11543634,11402041,8889548,15525513 78988 NM_024026,AL158032,CH471075,CS072369,AB049957,AW445203,BC000002,BC023616,BC068492,BG030730,BG773624,BG778041,BI601227,CF890784 NP_076931,CAM13061,EAX08296,EAX08297,EAX08298,CAI93507,BAB41010,AAH23616,AAH68492,Q9BQC6,ABM83014,ABM86207 Hs.458367 MGC3243|bMRP63 hMRP63|mitochondrial ribosomal protein bMRP63|ribosomal protein 63, mitochondrial protein-coding 1345839 MRP63P1 mitochondrial ribosomal protein 63 pseudogene 1 12706105 126581 NG_002827,AL121999,AY135236 pseudo 1342568 MRP63P10 mitochondrial ribosomal protein 63 pseudogene 10 12706105 347587 NG_002837,AC006987,AY135245 pseudo 1343179 MRP63P2 mitochondrial ribosomal protein 63 pseudogene 2 12706105 359729 NG_002845,AL451054,AY135237 pseudo 1352482 MRP63P3 mitochondrial ribosomal protein 63 pseudogene 3 12706105 359730 NG_002846,AC094020,AY135238 pseudo 1347527 MRP63P6 mitochondrial ribosomal protein 63 pseudogene 6 12706105 134490 NG_002829,AC113414,AY135241 pseudo 1345049 MRP63P7 mitochondrial ribosomal protein 63 pseudogene 7 12706105 359731 AC016877,AY135242,NG_002847 pseudo 1354513 MRP63P8 mitochondrial ribosomal protein 63 pseudogene 8 12706105 359732 NG_002848,AL121594,AY135243 pseudo 1353636 MRP63P9 mitochondrial ribosomal protein 63 pseudogene 9 12706105 359733 NG_002849,AL358334,AY135244 pseudo 1315701 MRPL1 mitochondrial ribosomal protein L1 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. 1580863 16368877,15815621,15489334,14702039,12706105,12477932,11543634,11279069,11042152,8889548,17207965,20877624,20379614 65008 NM_020236,AC112225,AC114801,CH471057,AB049474,AF212225,AK024791,AK315600,BC014356,BC015109,BC017765,BC032595,BU675164,BY799718,CR457191,CR606749 NP_064621,AAY41057,EAX05820,BAB40180,AAF87327,BAB15005,AAH14356,AAH15109,AAH17765,AAH32595,CAG33472,Q9BYD6,ADQ31830 Hs.532019 BM022|FLJ96680|L1MT|MRP-L1 39S ribosomal protein L1, mitochondrial|OTTHUMP00000219156 protein-coding 1315061 MRPL10 mitochondrial ribosomal protein L10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq] 16344560,15489334,14733910,12706105,12477932,11551941,11543634,9857009,3129699,16169070,18029348,19948975,20379614,20877624,19913121,20628086 124995 DA137043,NM_148887,NR_037575,AB051618,AC003665,CH471109,AI221522,AK127167,AK293624,AL558270,AL701268,BC015904,BC039852,BC052601,CR591517,CR591684,CR593769,NM_145255,CR593833,CR593882,CR596822,CR596865,CR604818,CR606662,CR606936,CR607866,CR608529,CR610068,CR611418,CR613540,CR616347,CR618897,CR619625,CR621367,CR621815 NP_683685,NP_660298,BAB54946,EAW94795,EAW94796,EAW94797,EAW94798,EAW94799,BAG54446,BAG57081,AAH15904,AAH52601,Q7Z7H8,ABM82065,ABM85244 Hs.347535 L10MT|MGC17973|MRP-L10|MRP-L8|MRPL8|RPML8 39S ribosomal protein L10, mitochondrial|39S ribosomal protein L8, mitochondrial|L8mt|OTTHUMP00000209656 protein-coding 1347202 MRPL11 mitochondrial ribosomal protein L11 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode different isoforms. Pseudogenes corresponding to this gene are found on chromosomes 5q and 12q. 1580863 16712791,11543634,17242401,16344560,16341674,15489334,14702039,12815950,12706105,12477932,11279069,10810093,9373149,8125298,18032916 65003 DB317593,NM_016050,NM_170739,NM_170738,AB051338,AP002748,CH471076,AB049638,AF151871,AK127603,AK223112,AK290084,AL519939,BC005002,BC108277,BI193255,BM554886,BM755421,BQ020382,CB115338,CR600024,CR622463,HB905036,HB921749,HB950868,HC962445,HC979158,HD008278 Q32P46,Q53G19,Q9Y3B7,NP_057134,NP_733935,NP_733934,BAB54928,EAW74526,EAW74527,EAW74528,EAW74529,EAW74530,EAW74531,BAB40843,AAD34108,BAD96832,BAF82773,AAH05002,AAI08278,CBF84275,CBF95859,CBG10116,CBV01195,CBV09379,CBV23638 Hs.418450 CGI-113|L11MT|MGC111024|MRP-L11 39S ribosomal protein L11, mitochondrial protein-coding 1606721 MRPL11P2 mitochondrial ribosomal protein L11 pseudogene 2 12706105 134008 NG_002416,AC005740,AY135247 pseudo 1346497 MRPL11P3 mitochondrial ribosomal protein L11 pseudogene 3 12706105 359734 NG_002850,AC068994,AY135248 pseudo 1343345 MRPL12 mitochondrial ribosomal protein L12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq] 1580863 8626705,17337445,9169145,16169070,15635413,15489334,12706105,12477932,11551941,11543634,10600119,20877624,16344560 6182 NM_002949,AB051337,AC139530,AF059736,CH471099,AF105278,BC002344,BC007497,U25041,X79865,CA310089,DA648796 NP_002940,BAB54927,AAG32154,EAW89680,AAD16894,AAH02344,AAH07497,AAC73110,CAA56249,P52815,Q15693,Q96Q74 Hs.109059 5c5-2|FLJ60124|L12mt|MGC8610|MRP-L31/34|MRPL7|MRPL7/L12|RPML12 39S ribosomal protein L12, mitochondrial|MRP-L12 protein-coding 1351918 MRPL13 mitochondrial ribosomal protein L13 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 1580863 15146197,11279069,18995835,15560738,15489334,12706105,12477932,11543634,8076819,20877624 28998 CN362173,NM_014078,AC107877,CH471060,AB049640,AF112214,AK307322,AK311924,BC009190,BC021744,BF243677,HB899267,HB910114,HB932238,HB949017,HB953748,HB957079,HC956676,HC967523,HC989647,HD006427,HD011158,HD014489 NP_054797,EAW92003,EAW92004,EAW92005,BAB40845,AAF17202,BAG34865,AAH09190,AAH21744,Q9BYD1,ABM84043,ABM84413,ABM87394,CBF78079,CBF89863,CBG00999,CBG09207,CBG11537,CBG13159,CBU98411,CBV03682,CBV14519,CBV22729,CBV25051,CBV26673 Hs.333823 L13|L13A|L13mt|RPL13|RPML13 39S ribosomal protein L13, mitochondrial|MRP-L13 protein-coding 1314744 MRPL14 mitochondrial ribosomal protein L14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 17p13.3. [provided by RefSeq] 15489334,14574404,12706105,12477932,11543634,9857009,17207965,20877624 64928 NM_032111,AB051339,AL109615,AL365192,CH471081,AA758781,AK312086,BC010416,BC065005,BM559405,BM910935,CR625056 NP_115487,BAB54929,CAI19245,EAX04242,EAX04243,EAX04244,EAX04245,BAG35022,AAH65005,Q6P1L8,ADQ33133 Hs.311190 L14mt|L32mt|MGC70566|MRP-L14|MRP-L32|MRPL32|RMPL32|RPML32 39S ribosomal protein L14, mitochondrial|39S ribosomal protein L32, mitochondrial protein-coding 1345632 MRPL14P1 mitochondrial ribosomal protein L14 pseudogene 1 12706105 359735 NG_002851,AC015884,AY135249 pseudo 1312447 MRPL15 mitochondrial ribosomal protein L15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq] 1580863 16381901,16344560,15489336,15489334,12706105,12477932,11543634,11256614,11230166,11076863,11042152,10593885,20877624 29088 AL136665,BC000891,BM510276,CR533531,CR591245,CR598879,CR600737,CR601316,CR610049,CR612116,CR612851,CR624666,DA504537,AK312832,NM_014175,AB051619,AC060764,CH471068,AF161494 BAG35686,CAB66600,AAH00891,CAG38562,Q9P015,CAL37842,NP_054894,BAB54947,EAW86747,AAF29109 Hs.18349 HSPC145|L15mt|MRP-L15|MRP-L7|RPML7 39S ribosomal protein L15, mitochondrial protein-coding 1351695 MRPL15P1 mitochondrial ribosomal protein L15 pseudogene 1 12706105 359736 NG_002852,AC079075,AY135250,AY135251 MRPL15P2 pseudo 1354403 MRPL16 mitochondrial ribosomal protein L16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 15489334,14702039,12706105,12477932,11551941,11543634,11279069,17207965,20877624 54948 CR608579,CR612630,CR620675,NM_017840,AP000640,CH471076,AA454132,AB049642,AF183428,AF275806,AK000491,BC001040,BC019269,CA428594,CR457117,FB746679 CAG33398,Q9NX20,NP_060310,EAW73858,EAW73859,BAB40847,AAG09697,AAG23818,BAA91202,AAH01040,AAH19269,ADQ31701,CAT04647 Hs.530734 FLJ20484|L16mt|MRP-L16|PNAS-111 39S ribosomal protein L16, mitochondrial protein-coding 1351017 MRPL17 mitochondrial ribosomal protein L17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 11984006,18162190,16344560,15489334,14702039,12706105,12477932,11543634,10931946,10593885,8889548,20877624 63875 NM_022061,AB051620,AC091564,CH471064,AF141338,AF164797,AK026857,AL572779,BC012306,BF513148,BM725086,BQ066780,CR457177,CR593225,CR596004,CR607645,CR611344,CR618867,DA876701,DB228622 NP_071344,BAB54948,EAW68681,EAW68682,AAG49441,AAF80761,BAB15575,AAH12306,CAG33458,Q9NRX2,ABM82507,ABM85700,ABM85962 Hs.708782,Hs.523456 L17mt|LIP2|MRP-L17|MRP-L26|RPL17L|RPML26 39S ribosomal protein L17, mitochondrial|LYST-interacting protein 2|LYST-interacting protein LIP2 protein-coding 1314973 MRPL18 mitochondrial ribosomal protein L18 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L18P ribosomal protein family. Three polymorphic sites exist in this gene, one of which is three nt in length which causes an extra aa near the N-terminus. [provided by RefSeq] 1580863 11543634,16381901,15489336,15489334,12706105,12477932,11551941,11230166,11076863,11042152,20877624,11256614 29074 NM_014161,AL135914,AL139045,CH471051,AF161556,AK311391,AL136633,BC001623,BU932963,CB529016,CR533491,CR593311,CR609327,CR610889,CR611649,CR612650 NP_054880,CAI21852,CAI19751,EAW47614,EAW47615,AAF29043,CAB66568,AAH01623,CAG38522,Q9H0U6,CAL38650 Hs.416998 HSPC071|L18mt|MRP-L18 39S ribosomal protein L18, mitochondrial protein-coding 1349255 MRPL19 mitochondrial ribosomal protein L19 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 1580863 10600119,20846247,20877624,10942595,17309879,15815621,15489334,12706105,12477932,11543634,11279069,9847074,7788527,17137291,20379614 9801 NM_014763,AB051621,AC005034,CH471053,AK291250,AK295578,AL157503,BC021051,BC030144,BI551514,BQ432684,CR593472,CR595766,CR605824,CR607194,CR622228,D14660 NP_055578,BAB54949,AAY14972,EAW99590,BAF83939,BAG58476,AAH30144,BAA03494,P49406,ABM83229,ABM86428 Hs.44024 KIAA0104|L19mt|MGC20675|MRP-L15|MRP-L19|MRPL15|RLX1|RPML15 39S ribosomal protein L15, mitochondrial|39S ribosomal protein L19, mitochondrial|L15mt|OTTHUMP00000202782 protein-coding 1316168 MRPL2 mitochondrial ribosomal protein L2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. [provided by RefSeq] 1580863 15489334,14574404,12706105,12477932,11543634,10810093,10593885,18029348,17207965,20877624 51069 NM_015950,AB051617,AL355385,CH471081,AF086160,AF132956,AK301041,AK314948,BC013685,BC020212,BM563754 NP_057034,BAB54945,CAI13780,EAX04150,EAX04151,EAX04152,EAX04153,AAD27731,BAG62654,BAG37453,AAH13685,AAH20212,Q5T653,ADQ31732 Hs.55041 CGI-22|MRP-L14|RPML14 39S ribosomal protein L2, mitochondrial|L2mt|MRP-L2|OTTHUMP00000216922 protein-coding 1319575 MRPL20 mitochondrial ribosomal protein L20 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. [provided by RefSeq] 1580863 11181995,16710414,16169070,15489334,14702039,12706105,12477932,11551941,11543634,11279069,20877624 55052 NM_017971,AL391244,CH471183,AB049644,AK000886,AK315794,AW015403,BC009515,BC014316,BC059945,BG700526,CR610439,CR619017,AC026283 NP_060441,CAI22658,EAW56206,EAW56207,EAW56208,BAB40849,BAA91406,BAG38138,AAH09515,AAH14316,AAH59945,Q9BYC9,Q9NWH4 Hs.182698 L20mt|MGC4779|MGC74465|MRP-L20 39S ribosomal protein L20, mitochondrial protein-coding 2293807 MRPL20P1 mitochondrial ribosomal protein L20 pseudogene 1 12706105 359737 NG_002853,AP000704,AY135253 pseudo 1320967 MRPL21 mitochondrial ribosomal protein L21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq] 1580863 20877624,15489334,14702039,12706105,12477932,11943462,11551941,17207965 219927 NM_181515,NM_181514,AP000808,CH471076,AK096756,AK301989,AV711404,BC055088,BM916618 NP_852616,NP_852615,EAW74724,EAW74725,EAW74726,EAW74727,EAW74728,BAG63396,AAH55088,Q7Z2W9,ADQ32139 Hs.503047 L21mt|MGC62013|MRP-L21 39S ribosomal protein L21, mitochondrial protein-coding 1319534 MRPL22 mitochondrial ribosomal protein L22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15489334,15342556,14702039,12706105,12477932,11943462,11551941,11543634,17207965,20877624,11042152,9857009,8889548,20379614 29093 NM_014180,NM_001014990,AB051622,AC008410,AC008421,CH471062,AF161507,AK000601,AK097880,AK302784,BC012565,BM662504,BP372420,BU943770,CR933679,FB342957,FB711080 NP_054899,NP_001014990,BAB54950,EAW61622,AAF29122,BAA91282,BAG63988,AAH12565,CAI45973,Q9NWU5,ADQ32414,CAR81479,CAS91495 Hs.483924 DKFZp781F1071|HSPC158|L22mt|MRP-L22|MRP-L25|RPML25 39S ribosomal protein L22, mitochondrial|39S ribosomal protein L25, mitochondrial|L25mt protein-coding 4144481 MRPL22P1 mitochondrial ribosomal protein L22 pseudogene 1 12706105 359738 AC068620,AY135254,NG_002854 pseudo 68481 MRPL23 mitochondrial ribosomal protein L23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq] 1302322,1580863 8541832,19304784,17242401,15489334,15146197,12706105,12477932,11943462,11543634,11279069,8889548,19615732,20877624 1302322 6150 NM_021134,AB051340,AC051649,CH471158,AK313805,BC027710,BM670857,CN310387,U26596,Z49254 NP_066957,BAB54930,EAX02472,EAX02473,BAG36541,AAH27710,AAC50415,CAA89220,Q16540 Hs.3254 FLJ45387|L23MRP|RPL23|RPL23L 39S ribosomal protein L23, mitochondrial|L23 mitochondrial-related protein|L23mt|MRP-L23|OTTHUMP00000069610|OTTHUMP00000199809|ribosomal protein L23-like|ribosomal protein related to L23 (mitochondrial) protein-coding 1344820 MRPL24 mitochondrial ribosomal protein L24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq] 16710414,15489334,14702039,12706105,12477932,11543634,10751423,9373149,8125298,20877624 79590 NM_024540,AB051341,AL590666,CH471121,AA730909,AK024570,AK222500,AK223066,BC012440,BC016700,BG706700,CR457329,NM_145729 NP_663781,NP_078816,BAB54931,CAI16343,CAI16344,CAI16345,CAI16346,EAW52913,EAW52914,BAB14929,BAD96220,BAD96786,AAH12440,AAH16700,CAG33610,Q96A35 Hs.418233 FLJ20917|L24mt|MGC22737|MGC9831|MRP-L18|MRP-L24 39S ribosomal protein L24, mitochondrial|OTTHUMP00000038728 protein-coding 1354168 MRPL25 mitochondrial ribosomal protein L25 1351315 MRPL26 mitochondrial ribosomal protein L26 1319233 MRPL27 mitochondrial ribosomal protein L27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 1580863 11279069,16341674,15489334,14702039,12706105,12477932,11543634,11042152,20877624 51264 NM_016504,AC004707,AC015909,CH471109,CS072286,CS072314,AB049647,AF151084,AK023576,AK315758,BC001066,BC021986,BG829493,BM840463,CR617457 NP_057588,EAW94622,EAW94623,EAW94624,CAI93424,CAI93452,BAB40852,AAF36170,BAG51205,BAG38111,AAH01066,AAH21986,Q9P0M9 Hs.7736 L27mt|MGC23716 39S ribosomal protein L27, mitochondrial|MRP-L27|OTTHUMP00000221164|OTTHUMP00000221194|OTTHUMP00000221195 protein-coding 1349308 MRPL28 mitochondrial ribosomal protein L28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq] 1580863 11551941,11543634,15616553,15489334,14702039,12706105,12477932,18029348,20877624,11157797,9672845,9373149,8125298,7751637,16169070,16537434,17207965 10573 BI862386,BM967049,DB469296,Z97634,AK096844,AK226042,AK315180,BC000507,BC000990,BC013829,BI833047,BT009857,BX647501,CR541751,CR590173,CR598621,CR604432,CR607877,CR614424,CR614871,CR620393,CR622823,CR624908,CR626385,CR626688,U19796,NM_006428,AE006463,CH471112 EAW85830,EAW85831,EAW85832,EAW85833,EAW85834,CAI95594,CAI95595,CAI95596,CAM26402,CAM26403,CAM26404,BAG37621,AAH00507,AAH00990,AAP88859,CAG46551,AAC50181,Q13084,Q4TT37,Q4TT38,Q6FHK1,NP_006419,AAK61226,EAW85827,EAW85828,EAW85829,ADQ31619 Hs.513230 MAAT1|MGC8499|p15 39S ribosomal protein L28, mitochondrial|L28mt|MRP-L28|OTTHUMP00000067338|OTTHUMP00000194920|OTTHUMP00000194921|OTTHUMP00000194923|melanoma antigen p15|melanoma-associated antigen recognised by cytotoxic T lymphocytes|melanoma-associated antigen recognized by T lymphocytes protein-coding 1345650 MRPL29 mitochondrial ribosomal protein L29 1349501 MRPL2P1 mitochondrial ribosomal protein L2 pseudogene 1 12706105 347894 NG_002838,AC009522,AY135252 pseudo 1314981 MRPL3 mitochondrial ribosomal protein L3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq] 1580863 17207965,20877624,2891103,15489334,12706105,12477932,11543634 11222 DC398662,NM_007208,AB051336,AC107027,CH471052,AK296626,AK301377,BC003375,BI490082,BM992835,CR456720,CR594770,CR595603,CR601545,CR603152,CR604372,CR611567,CR613161,CR619387,CR619647,CR623110,X06323 ADQ32733,NP_009139,BAB54926,EAW79209,BAG59232,BAG62918,AAH03375,CAG33001,CAA29639,P09001,Q96Q75 Hs.205163 MRL3|RPML3 39S ribosomal protein L3, mitochondrial|L3mt|MRP-L3|OTTHUMP00000216012|mitochondrial 60S ribosomal protein L3|ribosomal protein, mitochondrial, L3 protein-coding 1317834 MRPL30 mitochondrial ribosomal protein L30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified at least two transcript variants encoding the same protein. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. [provided by RefSeq] 1580863 15815621,15489334,14702039,12706105,12477932,11543634,11042152,9857009,9373149,8125298,20877624,17207965 51263 NM_145212,AB051342,AC079447,AC092587,AK126402,AK225894,BC000217,BC013822,BC022391,BU154006,CR602357,CR603303,CR608673,AK025547 NP_660213,BAB54932,AAX88929,BAC86542,AAH00217,AAH22391,Q8TCC3,ADQ32227 Hs.590896 FLJ44438|MGC24095|MGC3314|MRP-L28|MRPL28|RPML28 39S ribosomal protein L28, mitochondrial|39S ribosomal protein L30, mitochondrial|L28mt|L30mt|MRP-L30|OTTHUMP00000161222|OTTHUMP00000203467|OTTHUMP00000203469|OTTHUMP00000203471 protein-coding 4144490 MRPL30P1 mitochondrial ribosomal protein L30 pseudogene 1 12706105 359740 AL450489,AY135257,NG_002856 pseudo 4144506 MRPL30P2 mitochondrial ribosomal protein L30 pseudogene 2 12706105 359817 AC022080,AY135258,AY135259,NG_002912 MRPL30P3 pseudo 1350315 MRPL31 mitochondrial ribosomal protein L31 1321503 MRPL32 mitochondrial ribosomal protein L32 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq] 1580863 12446740,17207965,20877624,11543634,16341674,15489334,14702039,12706105,12690205,12477932,11551941,11279069,8889548 64983 NM_031903,AB051343,AC010132,CH236951,CH471073,AB049649,AF161401,AK090551,AK313393,BC013147,BM833110,BU687817,CR593442,CR599793,DB456673 ADQ32804,NP_114109,BAB54933,EAL24006,EAW94154,EAW94155,EAW94156,EAW94157,BAB40854,AAF28961,BAG52183,BAG36191,AAH13147,Q9BYC8 Hs.50252 HSPC283|L32mt|MRP-L32|bMRP-59b 39S ribosomal protein L32, mitochondrial protein-coding 4144488 MRPL32P1 mitochondrial ribosomal protein L32 pseudogene 1 12706105 359741 AC115618,AY135260,NG_002857 pseudo 1343335 MRPL33 mitochondrial ribosomal protein L33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 15815621,15489334,12706105,12477932,11543634,11279069,11042152,9653160,20877624 9553 NM_004891,NM_145330,AB051623,AC074091,AC110084,CH471053,AA836397,AF047440,BC009475,BC020834,BC087846,BC090047,BI601959,CR456888,CR542117 NP_004882,NP_663303,BAB54951,AAX93204,EAX00552,EAX00553,AAC39891,AAH09475,AAH20834,AAH90047,CAG33169,CAG46914,O75394,Q5FVE3 Hs.515879 C2orf1|L33mt|MGC111093|MGC13694|MGC23922|MRP-L33|RPL33L 39S ribosomal protein L33, mitochondrial|ribosomal protein L33-like protein-coding 1345591 MRPL34 mitochondrial ribosomal protein L34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 1580863 20877624,11543634,15489334,12706105,12477932,11279069,10600119 64981 NM_023937,AC010463,CH471106,CS072381,AB049652,BC000071,BC021801 NP_076426,EAW84590,EAW84591,EAW84592,CAI93519,BAB40857,AAH00071,AAH21801,Q9BQ48 Hs.515242 L34mt|MGC24974|MGC2633 39S ribosomal protein L34, mitochondrial|MRP-L34 protein-coding 1316034 MRPL35 mitochondrial ribosomal protein L35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq] 12477932,11543634,16344560,15489334,12706105,11551941,11042152,7757816,17207965,20877624 51318 NM_016622,NM_145644,AC009309,CH471053,AF208849,AK026220,AK074352,AK314555,AK314577,AL832982,BC020651,BG108475,BQ421154,BQ879834,BU195549,CR609156,DA413384,DA443416,DB245340,F11007,H11039 NP_057706,NP_663619,EAW99459,EAW99460,EAW99461,AAF64263,BAG37140,BAG37154,CAH56349,AAH20651,Q9NZE8,ADQ32163 Hs.433439 L35mt|MRP-L35 39S ribosomal protein L35, mitochondrial|OTTHUMP00000203313 protein-coding 4144489 MRPL35P1 mitochondrial ribosomal protein L35 pseudogene 1 12706105 359742 AL138718,AY135261,NG_002858 pseudo 4144487 MRPL35P2 mitochondrial ribosomal protein L35 pseudogene 2 12706105 359743 AC022387,AY135262,NG_002859 pseudo 1345132 MRPL35P3 mitochondrial ribosomal protein L35 pseudogene 3 12706105,359744 359744 NG_002860,AC022540,AY135263 pseudo 4144479 MRPL35P4 mitochondrial ribosomal protein L35 pseudogene 4 12706105 359745 AC005859,AY135264,NG_002861 pseudo 1314956 MRPL36 mitochondrial ribosomal protein L36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq] 1580863 11279069,19318571,15489334,12706105,12477932,11543634,11329013,10931946,17207965,20877624 64979 NM_032479,AC026443,CH471102,AB049654,AF151109,AF155653,AK312001,BC020642,BC104652,BG185418,DW465815,EF036487 NP_115868,EAX08144,EAX08145,BAB40859,AAF04788,AAF67010,BAG34939,AAH20642,AAI04653,ABO65073,Q9P0J6,ADQ32162 Hs.719465 BRIP1|L36mt|MGC104245|MRP-L36|PRPL36|RPMJ 39S ribosomal protein L36, mitochondrial|BRCA1-interacting protein 1|OTTHUMP00000220656|OTTHUMP00000220657|OTTHUMP00000220658|OTTHUMP00000220659|putative BRCA1-interacting protein protein-coding 1345200 MRPL36P1 mitochondrial ribosomal protein L36 pseudogene 1 12706105 285003 AC016700,NG_002831,AY135265 pseudo 1348769 MRPL37 mitochondrial ribosomal protein L37 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 724579 11543634,16710414,15562971,15489334,12706105,12477932,11042152,10600119,20877624,17207965,17643375 724579 51253 NM_016491,AB051344,AL161644,AL357673,CH471059,DQ205685,AF151069,AF325707,AI245012,AK024572,AK026171,AY421759,BC000041,CR594129,CR597035,CR598610,CR599560,CR603823,CR604411,CR610782,CR611248,CR615286,CR618152,CR620232,CR625978 NP_057575,BAB54934,CAI23564,CAH73897,EAX06694,EAX06695,EAX06696,EAX06697,EAX06698,ABA27099,AAF36155,AAG52881,AAR38839,AAH00041,Q6TGK8,Q9BZE1,ADQ31709 Hs.584908 L37mt|MGC878|MRP-L2|MRP-L37|MRPL2|RPML2 39S ribosomal protein L2, mitochondrial|39S ribosomal protein L37, mitochondrial|L2mt|ribosomal protein, mitochondrial, L2 protein-coding 1345251 MRPL37P1 mitochondrial ribosomal protein L37 pseudogene 1 387614 1322502 MRPL38 mitochondrial ribosomal protein L38 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 20562859,14702039,16344560,15489334,17207965,18029348,12706105,12477932,11543634,11347906,16169070 64978 NM_032478,AB051345,AC087289,CH471099,AF161380,AI126946,AK313283,BC013311,BC034460,DB289191 NP_115867,BAB54935,EAW89338,EAW89339,EAW89340,AAF28940,BAG36091,AAH13311,Q96DV4,ADQ31695 Hs.442609 FLJ13996|HSPC262|KIAA1863|L38MT|MGC4810|MRP-L3|MRP-L38|RPML3 39S ribosomal protein L38, mitochondrial|L38mt|MRP-L38 protein-coding 1348143 MRPL39 mitochondrial ribosomal protein L39 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq] 1580863 19615732,11167009,15489334,14702039,12706105,12477932,11943462,11543634,10593885,9373149,8125298,20877624 54148 NM_017446,NM_080794,AB051346,AP000223,CH471079,AF109357,AF239727,AF270511,AK000458,AK225878,BC004896,BC107719,BE865858,BQ719968,CD368044,CR598909,CR614734 NP_059142,NP_542984,BAB54936,EAX09979,EAX09980,EAX09981,EAX09982,AAQ13505,AAF44696,AAK12856,BAA91177,AAH04896,AAI07720,Q9NYK5 Hs.420696 C21orf92|FLJ20451|L39mt|MGC104174|MGC3400|MRP-L5|MRPL5|MSTP003|PRED22|PRED66|RPML5 39S ribosomal protein L39, mitochondrial|39S ribosomal protein L5, mitochondrial|L5mt|MRP-L39|OTTHUMP00000095992 protein-coding 4144483 MRPL3P1 mitochondrial ribosomal protein L3 pseudogene 1 12706105 359739 AL356259,AY135256,NG_002855 pseudo 1323408 MRPL4 mitochondrial ribosomal protein L4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. 1580863 16189514,15489334,12706105,12477932,11543634,11279069,10810093,9110174,8619474,20877624,16169070,19773279 51073 AB049635,AF132962,AI092267,AL561917,AY007152,BC000756,BC009858,BG325905,BG422689,BG758801,BM550378,CR595871,CR598866,CR599937,CR602741,CR606374,CR608400,CR611784,CR612119,CR613991,CR617549,CR620093,CR621397,CR623102,CR624166,CR624335,CR624795,CR626624,W38612,NM_146388,NM_015956,NM_146387,AC011511,CH471106 BAB40840,AAD27737,AAG02005,AAH00756,AAH09858,Q9BYD3,NP_666500,NP_057040,NP_666499,EAW84083,EAW84084,EAW84085 Hs.279652 CGI-28|L4mt|MGC16367|MGC2681 39S ribosomal protein L4, mitochondrial|MRP-L4 protein-coding 1343765 MRPL40 mitochondrial ribosomal protein L40 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq] 1580863 9790763,15489334,15461802,14702039,12706105,12477932,11543634,10226592,9857009,18029348,19615732,20877624 64976 NM_003776,AB051624,AC000068,AC000079,CH471176,AF034091,AJ295637,AK057708,AK123768,BC009707,CR456532,CR597501,CR597074 NP_003767,EAX03042,AAC70904,CAC00535,BAG53959,AAH09707,CAG30418,Q9NQ50,CAK54563,CAK54862,ABM82381,ABM82579,ABM85559 Hs.431307 FLJ41774|MGC9400|MRP-L22|NLVCF|URIM 39S ribosomal protein L40, mitochondrial|L40mt|MRP-L40|OTTHUMP00000196403|nuclear localization signal containing protein deleted in velocardiofacial syndrome|nuclear localization signal deleted in velocardiofacial syndrome|nuclear localization signal-containing protein deleted in velocardiofacial syndrome|up-regulated in metastasis protein-coding 1321029 MRPL41 mitochondrial ribosomal protein L41 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq] 16024796,16256947,15547950,15489334,15164053,12706105,12477932,11551941,11543634,9857009,18029348,20877624 64975 NM_032477,AB051625,AL365502,CH471090,AI091177,AY232291,BC040035,BM919526,CR595159 NP_115866,BAB54952,CAI14583,EAW88399,AAP69986,AAH40035,Q8IXM3 Hs.44017 BMRP|MRP-L27|MRPL27|PIG3|RPML27 39S ribosomal protein L27 homolog|39S ribosomal protein L41, mitochondrial|L41mt|MRP-L27 homolog|MRP-L41|bcl-2-interacting mitochondrial ribosomal protein L41|cell proliferation-inducing gene 3 protein|proliferation-inducing gene 3 protein-coding 1312629 MRPL42 mitochondrial ribosomal protein L42 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Further experiments will be needed to identify the specific subunit localization. Sequence analysis identified three transcript variants that encode two different isoforms. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq] 1302857,1580863 11279123,18391951,16169070,15489334,14702039,12706105,12477932,11551941,11543634,11230166,11042152,8889548,20546612,20877624 1302857 28977 NM_172177,NM_014050,AB051626,AC025260,CH471054,AF078860,AF135160,AF151038,AK000285,AL136659,BC040240,BM147739,BM726733,CR533495,CR601784,CR614600,CR749344,NM_172178 NP_751918,NP_751917,NP_054769,BAB54953,EAW97483,EAW97484,EAW97485,EAW97486,EAW97487,EAW97488,EAW97489,AAD44492,AAF43784,AAF36124,BAA91054,CAB66594,AAH40240,CAG38526,CAH18197,Q68DM3,Q9Y6G3,ACE87546 Hs.199579 HSPC204|MRP-L31|MRPL31|MRPS32|PTD007|RPML31 28S ribosomal protein S32, mitochondrial|39S ribosomal protein L31, mitochondrial|39S ribosomal protein L42, mitochondrial|L31mt|L42mt|MRP-L42|MRP-S32|S32mt|mitochondrial ribosomal protein S32 protein-coding 1354299 MRPL42P1 mitochondrial ribosomal protein L42 pseudogene 1 12706105 285415 NG_002665,AC092656,AY135266 pseudo 4144688 MRPL42P2 mitochondrial ribosomal protein L42 pseudogene 2 12706105 346116 AL021407,AY135267,NG_002907 pseudo 4144482 MRPL42P3 mitochondrial ribosomal protein L42 pseudogene 3 12706105 359746 AL031390,AY135268,NG_002862 pseudo 4144713 MRPL42P4 mitochondrial ribosomal protein L42 pseudogene 4 12706105 346470 AC004870,AY135269,CH236958,NG_002908 pseudo 1601918 MRPL42P5 mitochondrial ribosomal protein L42 pseudogene 5 12706105,8889548 359821 NR_002208,AC091045,AY135270,BM979118 Hs.678598 pseudo 1316878 MRPL43 mitochondrial ribosomal protein L43 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq] 1580863 17353931,11543634,15509589,15489334,14702039,12706105,12477932,11279069,17207965,20877624,16385451 84545 AB049656,AF086122,AK095556,AK291069,AK300237,AW513604,BC015905,BC031287,BC041165,BC052639,BC053373,BG620490,BM455058,BU072283,CR593768,CR595972,CR605711,CR612593,CR624980,NM_176792,NM_176793,NM_176794,NM_032112,NG_011646,AL133215,CH471066 EAW49797,EAW49798,EAW49799,EAW49800,BAB40861,BAC04572,BAF83758,BAG62005,AAH15905,AAH31287,AAH41165,AAH52639,AAH53373,Q86XN0,Q8N983,ADQ33022,NP_789762,NP_789763,NP_789764,NP_115488,CAI10917,CAI10918,CAI10919,CAI10920,CAI10921,CAI10922,CAI10923,EAW49795,EAW49796 Hs.421848 MGC17989|MGC48892|bMRP36a 39S ribosomal protein L43, mitochondrial|L43mt|MRP-L43|OTTHUMP00000020309|OTTHUMP00000020310|mitochondrial ribosomal protein bMRP36a protein-coding 1319960 MRPL44 mitochondrial ribosomal protein L44 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 1580863 17353931,16169070,15489334,14702039,12706105,12477932,11551941,16712791,20877624 65080 NM_022915,AC073641,CH471063,AA814344,AK022763,AK024052,AK095007,AL703412,BC012058,BG699238,CB132022,CR457293,CR598480,CR613852,CR619403,CR626643 NP_075066,AAY14925,EAW70819,EAW70820,BAB14234,BAB14802,AAH12058,CAG33574,Q9H9J2 Hs.203559 FLJ12701|FLJ13990|FLJ37688|L44MT|MRP-L44 39S ribosomal protein L44, mitochondrial protein-coding 1312625 MRPL45 mitochondrial ribosomal protein L45 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq] 1580863 15489334,14702039,12706105,12477932,11551941,9373149,8125298,20562859,18029348,19615732,20877624 84311 NM_032351,AC021317,AC115992,AC183084,CH471152,AK172741,AK225031,AK293605,BC006235,BC130382,BC130384,BF240534,BG719833,BG761720,CR595393,CR601011,CR602950,CR602955,CR609989,CR609992,CR626717 NP_115727,EAW60511,BAD18730,BAG57069,AAI30383,AAI30385,Q9BRJ2,ADR83119 Hs.537279 MGC11321 39S ribosomal protein L45, mitochondrial|L45mt|MRP-L45 protein-coding 4144480 MRPL45P1 mitochondrial ribosomal protein L45 pseudogene 1 12706105 359747 AC012671,AY135271,NG_002863 pseudo 4144667 MRPL45P2 mitochondrial ribosomal protein L45 pseudogene 2 12706105 653479 AC040934,AY135272,BC067758,BC090855,NR_033934 Hs.537279 pseudo 1319287 MRPL46 mitochondrial ribosomal protein L46 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 1580863 17207965,15489334,15146197,12706105,12477932,11761714,11551941,20379614,20877624 26589 CN309742,NM_022163,AC142401,CH471101,AF205435,AF210056,AK074053,AK315434,BC017883,CR601389,CR609481,CR615320 NP_071446,EAX01995,EAX01996,EAX01997,EAX01998,AAG33698,AAG43507,BAB84879,BAG37822,AAH17883,ADQ32109,Q8TER9,Q9H2W6 Hs.534261 C15orf4|LIECG2|MGC22762|P2ECSL 39S ribosomal protein L46, mitochondrial|L46mt|MRP-L46 protein-coding 1316780 MRPL47 mitochondrial ribosomal protein L47 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq] 1580863 12706105,12477932,11943462,11551941,20877624 57129 NM_177988,NM_020409,AC090425,CH471052,AY212270,BC021575,BC032522,CA428787 NP_817125,NP_065142,EAW78394,EAW78395,EAW78396,AAO92749,AAH21575,AAH32522,Q9HD33 Hs.283734 CGI-204|MGC45403|NCM1 39S ribosomal protein L47, mitochondrial|L47mt|MRP-L47|OTTHUMP00000212455|nasopharyngeal carcinoma metastasis-related 1|nasopharyngeal carcinoma metastasis-related protein 1 protein-coding 1316849 MRPL48 mitochondrial ribosomal protein L48 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. [provided by RefSeq] 1580863 17207965,20877624,18324346,16344560,16341674,15489334,12706105,12477932,11551941,10810093,8889548 51642 NM_016055,AP002770,CH471076,AF151876,AF161408,AK297746,AK309219,AK310005,BC009764,BC036501,BM817807,BM828996,BU932890,CF529680,CF541319,CR590808,CR611866,CR616956,DA549653 ADQ33160,NP_057139,EAW74913,AAD34113,AAF28968,BAG60096,AAH09764,Q96GC5 Hs.503239 CGI-118|FLJ17047|FLJ99260|HSPC290|L48MT|MGC13323|MRP-L48 39S ribosomal protein L48, mitochondrial protein-coding 1344176 MRPL48P1 mitochondrial ribosomal protein L48 pseudogene 1 12706105 221717 NG_002430,AL138885,AY135273 MRPL48L1|dJ290I10.4 pseudo 1320522 MRPL49 mitochondrial ribosomal protein L49 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for the HRD1 protein use in their respective 3' UTRs some of the same genomic sequence. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. 1580863 16344560,15489334,14702039,12706105,12477932,11551941,8786148,20877624 740 DA158218,DA162786,DA484303,NR_037567,NR_037568,AP003068,CH471076,AB062395,AB209160,AK123252,AK129795,AK129986,AK311821,BC004378,BG250495,CR593043,CR598452,CR600382,CR602808,CR625371,U39400,NM_004927 NP_004918,EAW74354,EAW74355,EAW74356,BAB93482,BAD92397,BAG34763,AAH04378,AAB18826,Q13405,Q59GE9 C11orf4|L49mt|MGC10656|NOF|NOF1 39S ribosomal protein L49, mitochondrial|MRP-L49|neighbor of FAU|next to FAU protein-coding 4144461 MRPL49P1 mitochondrial ribosomal protein L49 pseudogene 1 12706105 359748 AC008854,AY135274,NG_002864 pseudo 1342652 MRPL49P2 mitochondrial ribosomal protein L49 pseudogene 2 12706105 346711 NG_002836,AC010785,AY135275 pseudo 1353682 MRPL5 mitochondrial ribosomal protein L5 1317530 MRPL50 mitochondrial ribosomal protein L50 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq] 15489334,15164053,15146197,14702039,12706105,12477932,11551941,20877624 54534 NM_019051,AL353621,CH471105,AK000500,BC032008,CN388719 NP_061924,CAI14610,EAW58948,BAA91207,AAH32008,Q8N5N7 Hs.288224 FLJ20493|FLJ21990|MRP-L50 39S ribosomal protein L50, mitochondrial|L50mt|mitochondrial 39S ribosomal protein L50 protein-coding 1348015 MRPL50P1 mitochondrial ribosomal protein L50 pseudogene 1 12706105 351143 NG_002841,AC068274,AY135276 pseudo 4144463 MRPL50P2 mitochondrial ribosomal protein L50 pseudogene 2 12706105 359749 AC080075,AY135277,NG_002865 pseudo 4144478 MRPL50P3 mitochondrial ribosomal protein L50 pseudogene 3 12706105 359750 AC136601,AY135278,NG_002866 pseudo 4144477 MRPL50P4 mitochondrial ribosomal protein L50 pseudogene 4 12706105 359751 AC026391,AY135279,NG_002867 pseudo 1315444 MRPL51 mitochondrial ribosomal protein L51 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq] 15489334,12706105,12477932,11551941,11543634,11402041,11042152,20877624 51258 NM_016497,AB051355,AC006064,CH471116,AB049959,AF151075,AF212248,BC000191,BC014329,BI856229,CR608330,CR624922 NP_057581,BAB54944,EAW88791,BAB41012,AAF36161,AAK14931,AAH00191,AAH14329,Q4U2R6 Hs.55847 CDA09|HSPC241|MRP64|bMRP64 39S ribosomal protein L51, mitochondrial|L51mt|MRP-L51|bMRP-64|mitochondrial ribosomal protein 64|mitochondrial ribosomal protein bMRP64 protein-coding 1344793 MRPL51P1 mitochondrial ribosomal protein L51 pseudogene 1 12706105 351773 NG_002843,AC006568,AY135280 pseudo 1352102 MRPL51P2 mitochondrial ribosomal protein L51 pseudogene 2 12706105 343819 NG_002834,AP001631,AY135281 pseudo 1319568 MRPL52 mitochondrial ribosomal protein L52 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. 16344560,16341674,15489334,14702039,12706105,12477932,11943462,11551941,18029348,20877624 122704 NM_181304,NM_181305,NM_181306,NM_178336,NM_181307,NM_180982,AL135998,CH471078,AA282746,AA282747,AI380351,AK000450,AK096946,AK292011,BC055381,BC068070,BG714882,BG716120,BQ082981,BU600884,BX248749,CR614140,DA917052 NP_851821,NP_851822,NP_851823,NP_848026,NP_851824,NP_851313,EAW66238,EAW66239,EAW66240,EAW66241,EAW66242,EAW66243,EAW66244,BAF84700,AAH68070,CAD66556,Q86TS9 Hs.355935 39S ribosomal protein L52, mitochondrial|L52mt|MRP-L52|OTTHUMP00000164490 protein-coding 1315480 MRPL53 mitochondrial ribosomal protein L53 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq] 15489334,12706105,12477932,11551941,11329013,19615732 116540 NM_053050,AC005041,CH471053,BC012163,BG196300 NP_444278,EAW99651,AAH12163,Q96EL3 Hs.534527 FLJ90728|MGC20402 39S ribosomal protein L53, mitochondrial|L53mt|MRP-L53 protein-coding 4144460 MRPL53P1 mitochondrial ribosomal protein L53 pseudogene 1 12706105 359752 AL929470,AY135282,NG_002868 pseudo 1313872 MRPL54 mitochondrial ribosomal protein L54 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq] 17207965,20877624,15489334,12706105,12477932,11551941,7566098 116541 NM_172251,AC005777,AC005954,CH471139,AA340000,BC065273,BF346319,BM792364,BQ061807 ADQ33121,NP_758455,EAW69289,AAH65273,Q6P161 Hs.356578 L54mt|MRP-L54 39S ribosomal protein L54, mitochondrial protein-coding 1317775 MRPL55 mitochondrial ribosomal protein L55 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq] 17207965,20877624,17567985,16710414,15489334,14702039,12975309,12706105,12477932,11943462,11551941,10737800,8889548 128308 NM_181441,NM_181456,NM_181463,NM_181462,NM_181465,NM_181464,NM_181455,NM_181454,AL136379,CH471098,AA479904,AI301403,AK056987,AY358771,BC052806,BF945771,BG475759,BI458525,BM706934,BM975134,BP871687,BQ012917,BQ684146,BQ771735,BQ920610,BU594505,BU597178,BU601595,BU956146,BX647745,CB529047,CR617921,CV572808 ADQ33097,NP_852106,NP_852121,NP_852128,NP_852127,NP_852130,NP_852129,NP_852120,NP_852119,CAI23115,CAI23116,CAI23117,CAI23118,EAW69840,EAW69841,EAW69842,EAW69843,EAW69844,EAW69845,EAW69846,EAW69847,EAW69848,EAW69849,AAQ89131,AAH52806,Q7Z7F7 Hs.63236 AAVG5835|DKFZp686D1387|L55nt|MGC61802|MRP-L55|PRO19675 39S ribosomal protein L55, mitochondrial|L55mt|OTTHUMP00000036077|OTTHUMP00000037498|OTTHUMP00000037499|OTTHUMP00000037503 protein-coding 1350310 MRPL6 mitochondrial ribosomal protein L6 1346687 MRPL8 mitochondrial ribosomal protein L8 1350314 MRPL9 mitochondrial ribosomal protein L9 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 8q21.11. [provided by RefSeq] 1580863 11543634,16710414,15489334,12706105,12477932,11551941,11279069,20532202,16169070,18029348,20877624 65005 NM_031420,AL589765,CH471121,AB049636,AK026363,AK293401,AK300668,AK309841,AK315459,BC004517,BG437768,CR623678 NP_113608,CAI17171,CAI17172,EAW53415,EAW53416,BAB40841,BAG56908,BAG62353,BAG37846,AAH04517,Q9BYD2 Hs.288936 L9mt 39S ribosomal protein L9, mitochondrial|MRP-L9 protein-coding 1353849 MRPL9P1 mitochondrial ribosomal protein L9 pseudogene 1 12706105 137290 NG_001539,AC011716 pseudo 1350720 MRPS1 mitochondrial ribosomal protein S1 1302857 11943462 1302857 1323017 MRPS10 mitochondrial ribosomal protein S10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq] 1302857,1580863 15489334,14702039,14574404,12706105,12477932,11827452,11279123,10938081,17207965,18029348,20877624 1302857 55173 AL096814,CH471081,AF113220,AF277180,AI683142,AI754661,AK001429,AK098446,AK298219,AK316599,AW300686,AW974308,NM_018141,BG776014,BC012560 NP_060611,CAD92529,EAX04086,EAX04087,AAG39291,AAK07539,BAA91686,BAG60489,BAG38186,AAH12560,P82664,Q9BZS5,ADQ32446 Hs.380887,Hs.669022 FLJ10567|MRP-S10|PNAS-122 28S ribosomal protein S10, mitochondrial|S10mt|mitochondrial 28S ribosomal protein S10 protein-coding 1604465 MRPS10P1 mitochondrial ribosomal protein S10 pseudogene 1 12706105 359753 NG_002869,AL121714,AY135284 pseudo 1604163 MRPS10P2 mitochondrial ribosomal protein S10 pseudogene 2 12706105 359802 NG_002903,AC024168,AY135285,AY135286,AY135287 MRPS10P3|MRPS10P4 pseudo 1604464 MRPS10P5 mitochondrial ribosomal protein S10 pseudogene 5 12706105 359754 NG_002870,AL138752,AY135288 pseudo 1350817 MRPS11 mitochondrial ribosomal protein S11 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Sequence analysis identified two transcript variants that encode different protein isoforms. 1580863 15300802,15489334,14702039,12706105,12477932,11543634,11402041,11279123,9373149,8125298,20877624 64963 NM_022839,NM_176805,AB051349,AC013489,AC142401,AF320777,CH471101,AB049944,AK026165,AK027059,AK222933,AK223152,AK315407,BC000200,BC009451,BC012489,BC032378,CR602512,CX163380 NP_073750,NP_789775,BAB54939,AAK97314,EAX01999,EAX02000,EAX02001,EAX02002,BAB40997,BAB15381,BAD96653,BAD96872,BAG37799,AAH09451,AAH12489,AAH32378,P82912,Q53FX9,Q53GJ8,Q96Q62,ABM82512,ABM85706 Hs.111286 FLJ22512|FLJ23406|HCC-2 28S ribosomal protein S11, mitochondrial|MRP-S11|S11mt|cervical cancer proto-oncogene 2 protein protein-coding 1346551 MRPS11P1 mitochondrial ribosomal protein S11 pseudogene 1 12706105 128774 NG_000977,AL109953,AY135289 dJ746H2.1 pseudo 1314714 MRPS12 mitochondrial ribosomal protein S12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq] 1580863 12970870,9545647,18790094,16169070,15489334,12706105,12477932,11543634,11402041,11279123,10542210,9790755,9434165,12646258,19439209,20877624 6183 NM_021107,NM_033363,AC011455,AF058761,CH471126,AI168197,BC001617,BC006424,BC007499,CR407609,Y11681,NM_033362 NP_203526,NP_066930,NP_203527,AAC64704,EAW56849,EAW56850,EAW56851,EAW56852,AAH01617,AAH06424,AAH07499,CAG28537,CAA72377,O15235 Hs.411125 MPR-S12|MT-RPS12|RPMS12|RPS12|RPSM12 28S ribosomal protein S12, mitochondrial|MRP-S12|S12mt|ribosomal protein, mitochondrial, S12 protein-coding 1342933 MRPS13 mitochondrial ribosomal protein S13 1302857 11943462 1302857 1319772 MRPS14 mitochondrial ribosomal protein S14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. [provided by RefSeq] 1580863 10938081,16710414,15489334,12706105,12477932,11543634,11279123,17353931,16344560,20877624,19615732 63931 NM_022100,AB051350,CH471067,Z99297,AK310915,AK311759,AL049705,BC009788,AI086885,BE882322,CB957578,DA610441,NR_037606 NP_071383,BAB54940,EAW90984,EAW90985,CAB16601,BAG34702,CAB41269,AAH09788,O60783,Q96Q61 Hs.702192,Hs.654858 DJ262D12.2|HSMRPS14|MRP-S14|S14mt 28S ribosomal protein S14, mitochondrial|S14mt|mitochondrial 28S ribosomal protein S14 protein-coding 1347502 MRPS15 mitochondrial ribosomal protein S15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq] 1580863 18029348,20877624,8889548,11279123,15489334,14702039,12706105,12477932,11543634,11402041 64960 NM_031280,AC119675,CH471059,AB049946,AB209905,AF265439,AK021626,AK125230,AK302633,AK315441,BC031336,BF310592,BM048518,BU927793,CF123360 NP_112570,EAX07359,EAX07360,EAX07361,EAX07362,EAX07363,BAB40999,BAD93142,AAG44697,BAG63875,BAG37829,AAH31336,P82914,Q59EA6 Hs.352839 DC37|FLJ11564|MPR-S15|RPMS15|S15mt 28S ribosomal protein S15, mitochondrial|MRP-S15 protein-coding 4144462 MRPS15P1 mitochondrial ribosomal protein S15 pseudogene 1 12706105 359755 AC009660,AY135290,NG_002871 pseudo 4144458 MRPS15P2 mitochondrial ribosomal protein S15 pseudogene 2 12706105 359756 AC138473,AY135291,NG_002872 pseudo 1321233 MRPS16 mitochondrial ribosomal protein S16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq] 1580863 11279123,18539099,15505824,15489334,14702039,12706105,12477932,11543634,11402041,10810093,17207965,20877624,16385451,19807034 51021 NM_016065,NG_008096,AB051351,AC016394,CH471083,AB049948,AF151890,AK025715,AK098291,BC021106,BQ441549,CR592830 NP_057149,BAB54941,EAW54487,BAB41001,AAD34127,AAH21106,Q9Y3D3,ADQ32537 Hs.180312 CGI-132|COXPD2|FLJ22062|FLJ40972|MRP-S16|RPMS16 28S ribosomal protein S16, mitochondrial|S16mt protein-coding 1349830 MRPS16P mitochondrial ribosomal protein S16 pseudogene 12706105 128609 NG_000968,AL136532,AY135293 MRPS16P2|bA379F14.1 pseudo 1351805 MRPS16P1 mitochondrial ribosomal protein S16 pseudogene 1 12706105 137406 NG_002648,AC103680,AY135292 pseudo 1348362 MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 12706105 338388 NG_002649,AL049748,AY135294 pseudo 1316964 MRPS17 mitochondrial ribosomal protein S17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq] 1580863 11279123,17081983,15489334,12706105,12477932,11543634,11402041,11181995,11042152,9653160,20877624 51373 NM_015969,AB051352,AC092579,CH471140,AB049950,AF077035,AK026553,BC037405,BC047445,BC054031 NP_057053,BAB54942,EAX07962,EAX07963,BAB41003,AAD27768,AAH37405,AAH47445,AAH54031,Q8IY71,Q96Q59,Q9Y2R5 Hs.44298 HSPC011|MRP-S17|RPMS17 28S ribosomal protein S17, mitochondrial|OTTHUMP00000209315|S17mt protein-coding 1604162 MRPS17P1 mitochondrial ribosomal protein S17 pseudogene 1 12706105 359803 NG_004092,AL136380,AY135295,AY135296 MRPS17P2 pseudo 4144456 MRPS17P3 mitochondrial ribosomal protein S17 pseudogene 3 12706105 359757 AC112508,AY135297,NG_002873 pseudo 4144457 MRPS17P5 mitochondrial ribosomal protein S17 pseudogene 5 12706105 359758 AL035470,AY135299,NG_002874 pseudo 4144459 MRPS17P6 mitochondrial ribosomal protein S17 pseudogene 6 12706105 359759 AL135744,AY135300 pseudo 1604703 MRPS17P7 mitochondrial ribosomal protein S17 pseudogene 7 12706105 342776 NG_004091,AC022724,AY135298,AY135301,AY135302 MRPS17P4|MRPS17P8 pseudo 4144454 MRPS17P9 mitochondrial ribosomal protein S17 pseudogene 9 12706105 359760 AC004973,AY135303,NG_002876 pseudo 1346345 MRPS18A mitochondrial ribosomal protein S18A Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. [provided by RefSeq] 1302857,1580863 17207965,20877624,11279123,15489334,14702039,14574404,12706105,12477932,11543634,11402041,19913121,20628086 1302857 55168 CA420521,NM_001193343,NM_018135,AL136131,CH471081,AB049952,AK001410,AK300757,AK307183,BC010364,CR592702,CR602940,CR603681,CR604254,CR605035,CR607376,CR611756,CR625947,DQ884400 NP_001180272,ADQ32634,NP_060605,CAC19510,CAI19963,CAI19964,EAX04224,EAX04225,BAB41005,BAA91675,BAG62423,AAH10364,ABI63367,Q5QPA4,Q5QPA5,Q9NVS2 Hs.520149 FLJ10548|HumanS18b|MRP-S18-3|MRPS18-3|S18bmt 28S ribosomal protein S18-3, mitochondrial|28S ribosomal protein S18a, mitochondrial|MRP-S18-a|OTTHUMP00000016497|OTTHUMP00000016498|S18mt-a|mitochondrial ribosomal protein S18-3 protein-coding 4144452 MRPS18AP1 mitochondrial ribosomal protein S18A pseudogene 1 12706105 359761 AC104190,AY135304,NG_002877 pseudo 1349132 MRPS18B mitochondrial ribosomal protein S18B Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq] 1302857,1580863 17353931,20877624,11279123,18391203,16702430,16189514,15489334,15342556,12706105,12477932,11402041,11042152,19851445 1302857 28973 NM_014046,AB110933,AB110934,AB202094,AL662800,AL662825,AL732442,AL845353,BX119957,BX248507,BX908728,CH471081,CR753328,CR759778,AF100761,AF151017,AK294086,AK311890,AL050361,BC005373,BE220785,BG773408,BP369345,CR597692,CR606443,CR610108,CR617004,CR619449,CR620352,CR623682 NP_054765,BAD13699,BAD13700,BAE78614,CAI18161,CAI18162,CAI17839,CAI17840,CAI17764,CAI17765,CAI41878,CAM25910,CAM25911,CAI18569,CAQ07411,CAQ07412,EAX03304,EAX03305,CAP58452,CAP58453,CAQ09404,CAQ09405,AAD43025,AAF36103,BAG57427,BAG34831,CAH56415,AAH05373,Q5STN0,Q9Y676,CAX11915 Hs.655329 C6orf14|DKFZp564H0223|HSPC183|HumanS18a|MRP-S18-2|MRPS18-2|PTD017|S18amt 28S ribosomal protein S18-2, mitochondrial|28S ribosomal protein S18b, mitochondrial|MRP-S18-b|S18mt-b|mitochondrial ribosomal protein S18-2|mrps18-b protein-coding 4144455 MRPS18BP1 mitochondrial ribosomal protein S18B pseudogene 1 12706105 359762 AC138024,AY135305 pseudo 4144453 MRPS18BP2 mitochondrial ribosomal protein S18B pseudogene 2 12706105 359763 AC012497,AY135306,NG_002879 pseudo 1317511 MRPS18C mitochondrial ribosomal protein S18C Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq] 1302857,1580863 11279123,16344560,15489334,14702039,12706105,12477932,10810093,17207965,20877624,20379614 1302857 51023 NM_016067,AC096768,CH471057,AF151892,AK002008,AK026620,BC005186,CR594294,DB141267 NP_057151,EAX05937,EAX05938,EAX05939,EAX05940,AAD34129,AAH05186,Q9Y3D5,ADQ31594 Hs.436161 CGI-134|FLJ11146|FLJ22967|MRP-S18-1|MRPS18-1 28S ribosomal protein S18-1, mitochondrial|28S ribosomal protein S18c, mitochondrial|MRP-S18-c|OTTHUMP00000219795|OTTHUMP00000219796|OTTHUMP00000220290|OTTHUMP00000220291|S18mt-c|mitochondrial ribosomal protein S18-1|mrps18-c protein-coding 1351675 MRPS18CP2 mitochondrial ribosomal protein S18C pseudogene 2 18154640,12706105 286043 NG_002666,AC087763,AY135308 pseudo 4144449 MRPS18CP3 mitochondrial ribosomal protein S18C pseudogene 3 12706105 359764 AC124242,AY135309 pseudo 1344844 MRPS18CP4 mitochondrial ribosomal protein S18C pseudogene 4 12706105 349842 NG_002839,AC092112,AY135310 pseudo 4144451 MRPS18CP5 mitochondrial ribosomal protein S18C pseudogene 5 12706105 359765 AC044913,AY135311,NG_002881 pseudo 1349276 MRPS18CP6 mitochondrial ribosomal protein S18C pseudogene 6 12706105 343901 Z81308,NG_002835,AY135312 pseudo 1345475 MRPS19 mitochondrial ribosomal protein S19 1302857 11943462 1302857 1319275 MRPS2 mitochondrial ribosomal protein S2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. 1580863 15489334,12706105,12477932,11543634,11402041,11279123,10810093,20877624 51116 AB051627,AL161452,CH471090,AB055388,AF151849,AI300329,BC004905,BC008017,BC013108,BX362434,CR590268,CR594195,CR594313,CR597790,CR601906,CR602548,CR603007,NM_016034,CR603788,CR604166,CR607813,CR608447,CR611464,CR615619,CR616508,CR618613,CR619983,CR622426,CR623075 BAB54954,CAI14046,CAI14047,EAW88152,EAW88153,BAB62529,AAD34086,AAH04905,AAH08017,AAH13108,NP_057118,Q5T8A0,Q96Q47,Q9Y399 Hs.382044 CGI-91|MRP-S2|S2mt 28S ribosomal protein S2, mitochondrial|OTTHUMP00000022545|OTTHUMP00000022546|mitochondrial 28S ribosomal protein S2 protein-coding 1347127 MRPS20 mitochondrial ribosomal protein S20 1302857 11943462 1302857 1316574 MRPS21 mitochondrial ribosomal protein S21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq] 11279123,15489334,12706105,12477932,11543634,11402041,9110174,8619474,20877624,19615732 54460 CR610321,U79258,BI755132,NM_018997,NM_031901,AB051353,AL138795,CH471121,AA977333,AB049955,AF182417,AK058101,AK289467,BC004566,BC006554,BG037004 AAB50204,P82921,Q5TB11,Q96LM4,Q99768,NP_061870,NP_114107,CAI22820,EAW53557,EAW53558,EAW53559,BAB41008,AAG14953,BAB71666,BAF82156,AAH04566,AAH06554 Hs.405880 MDS016|MRP-S21|RPMS21 28S ribosomal protein S21, mitochondrial|S21mt|mitochondrial 28S ribosomal protein S21 protein-coding 1342901 MRPS21P1 mitochondrial ribosomal protein S21 pseudogene 1 12706105 199900 NG_002663,AL357078,AY135313 pseudo 1604463 MRPS21P2 mitochondrial ribosomal protein S21 pseudogene 2 12706105 359766 NG_002882,AL139409,AY135314 pseudo 1604462 MRPS21P3 mitochondrial ribosomal protein S21 pseudogene 3 12706105 359767 NG_002883,AL513325,AY135315 pseudo 1604461 MRPS21P4 mitochondrial ribosomal protein S21 pseudogene 4 12706105 359768 NG_002884,AL354935,AY135316 pseudo 1604460 MRPS21P5 mitochondrial ribosomal protein S21 pseudogene 5 12706105 359769 NG_002885,AL390866,AY135317 pseudo 1604459 MRPS21P6 mitochondrial ribosomal protein S21 pseudogene 6 12706105 359770 NG_002886,AL157888,AY135318 pseudo 1604458 MRPS21P7 mitochondrial ribosomal protein S21 pseudogene 7 12706105 359771 NG_002887,AC027348,AY135319 pseudo 1344442 MRPS21P8 mitochondrial ribosomal protein S21 pseudogene 8 12706105 350297 NG_002840,AC027348,AY135320 pseudo 1604457 MRPS21P9 mitochondrial ribosomal protein S21 pseudogene 9 12706105 359772 NG_002888,AC021491,AY135321 pseudo 1353996 MRPS22 mitochondrial ribosomal protein S22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq] 1580863 17353931,10938081,18539099,17873122,16303743,16236267,15489334,15081106,12706105,12477932,11543634,11175783,20877624,11279123,18029348 56945 BC009296,CR596632,CR596872,CR610332,CR619759,CR624297,CR626182,AL110129,NM_020191,NG_012174,AB061314,AC024933,CH471052,AB208981,AF063603,AF226045,AF321613,AK075436,AK292852 AAH09296,P82650,Q59GX8,Q8NBL6,Q96Q16,Q9H3I1,NP_064576,BAB54962,EAW79041,EAW79042,EAW79043,EAW79044,EAW79045,BAD92218,AAG43162,AAF86945,AAK01406,BAC11619,BAF85541 C3orf5|COXPD5|GIBT|GK002|MRP-S22|RPMS22 28S ribosomal protein S22, mitochondrial|OTTHUMP00000216955|OTTHUMP00000216957|OTTHUMP00000216958|S22mt protein-coding 4144447 MRPS22P1 mitochondrial ribosomal protein S22 pseudogene 1 12706105 359773 AL136363,AY135322,NG_002889 pseudo 1315875 MRPS23 mitochondrial ribosomal protein S23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq] 1580863 20379614,18029348,20877624,15489334,12706105,12477932,11543634,11279123,10938081,10810093 51649 AW299554,BI962985,BX479815,NM_016070,AB061206,AC015845,CH471109,AF151896,AF161447,AK312729,BC000242,CR622139,CR622466 NP_057154,BAB54956,EAW94503,AAD34133,AAF29007,BAG35600,AAH00242,Q9Y3D9 Hs.5836 CGI-138|HSPC329|MRP-S23 28S ribosomal protein S23, mitochondrial|S23mt protein-coding 1354385 MRPS23P1 mitochondrial ribosomal protein S23 pseudogene 1 12706105 352290 NG_026560,NG_002844,AC004847,AC004854,AY135323,CH236960 pseudo 1314387 MRPS24 mitochondrial ribosomal protein S24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. [provided by RefSeq] 17207965,20877624,17353931,10938081,15489334,12706105,12690205,12477932,11543634,11402041,11279123,9653160,8127713 64951 NM_032014,AB061207,AC004985,CH236951,CH471073,AF161453,BC012167,BC054865,CA413186 ADQ33181,NP_114403,BAB54957,EAL24009,EAW94172,EAW94173,AAF29013,AAH12167,AAH54865,Q96EL2 Hs.284286 HSPC335|MRP-S24 28S ribosomal protein S24, mitochondrial|S24mt|bMRP-47|bMRP47|mitochondrial 28S ribosomal protein S24 protein-coding 1352075 MRPS24P1 mitochondrial ribosomal protein S24 pseudogene 1 12706105 338389 NG_002650,AC136475,AY135324 pseudo 1318737 MRPS25 mitochondrial ribosomal protein S25 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. [provided by RefSeq] 1580863 17207965,20877624,14702039,12706105,12477932,11543634,11279123,11214971,10938081,17353931,15489334 64432 AB061208,AC090954,CH471055,AI288348,AK024433,AK024702,AK098361,AK294123,AK298791,AL597886,BC003590,CR602083,CR607348,NM_022497 ADQ32832,NP_071942,BAB54958,EAW64217,EAW64218,EAW64219,BAB15723,BAB14968,BAG57456,BAG60928,AAH03590,P82663,Q96Q22 Hs.715617 DKFZp313H0817|FLJ00023|MRP-S25|RPMS25 28S ribosomal protein S25, mitochondrial|OTTHUMP00000208266|OTTHUMP00000209537|S25mt|mitochondrial 28S ribosomal protein S25 protein-coding 1343711 MRPS25P1 mitochondrial ribosomal protein S25 pseudogene 1 12706105 338390 NG_002651,AC021127,AY135325 pseudo 1318680 MRPS26 mitochondrial ribosomal protein S26 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq] 1580863 15300802,11279123,15489334,12747765,12706105,12477932,11780052,11543634,9857009,16169070,16248985,19615732,17207965,20877624 64949 NM_030811,AB051354,AF110983,AL121905,CH471133,AF308301,BC013018,BI115733 NP_110438,BAB54943,CAC10339,EAX10556,AAG48268,AAH13018,Q9BYN8,Q9H273,ADQ33193 Hs.18946 C20orf193|GI008|MRP-S13|MRP-S26|MRPS13|NY-BR-87|RPMS13|dJ534B8.3 28S ribosomal protein S13, mitochondrial|28S ribosomal protein S26, mitochondrial|S13mt|S26mt|serologically defined breast cancer antigen NY-BR-87 protein-coding 1323490 MRPS27 mitochondrial ribosomal protein S27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). [provided by RefSeq] 1580863 17207965,20877624,17643375,12706105,12477932,11344316,11279123,9039502 23107 NM_015084,AC012609,AC026406,CH471084,AK025417,AK027001,AK128683,AK296581,AK299412,AK300111,AK309065,BC003632,BC011818,BC030521,BC064902,BM995930,CR592628,D87453,DC341760 ADQ32593,Q6PKB3,Q8N6F2,Q92552,NP_055899,EAW95701,EAW95702,EAW95703,BAG54710,BAG59201,BAG61394,BAG61906,AAH03632,AAH30521,AAH64902,BAA13394 Hs.482491 FLJ21764|FLJ23348|KIAA0264|MRP-S27|S27mt 28S ribosomal protein S27, mitochondrial|OTTHUMP00000223555|mitochondrial 28S ribosomal protein S27 protein-coding 1313591 MRPS28 mitochondrial ribosomal protein S28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. 1302857,1580863 12477932,11543634,11279123,11042152,10751423,9373149,8125298,10938081,15489334,12706105,18029348,20877624 1302857 28957 NM_014018,AB061209,AC009686,AC018952,AC036214,CH471068,AF070663,AK026506,AK223069,AK315739,BC010150,CR602923,CR616931 NP_054737,BAB54959,EAW87069,EAW87070,EAW87071,EAW87072,AAD20969,BAD96789,BAG38094,AAH10150,Q53G62,Q9Y2Q9 Hs.521124 FLJ22853|HSPC007|MRP-S28|MRP-S35|MRPS35 28S ribosomal protein S28, mitochondrial|28S ribosomal protein S35, mitochondrial|S28mt|S35mt|mitochondrial 28S ribosomal protein S35 protein-coding 4144446 MRPS29P2 mitochondrial ribosomal protein S29 pseudogene 2 12706105 359774 AC007969,AY135327,NG_002890 pseudo 1344118 MRPS3 mitochondrial ribosomal protein S3 1302857 11943462 1302857 1320179 MRPS30 mitochondrial ribosomal protein S30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq] 1302857,1580863 10640817,15489334,14702039,12706105,12477932,11543634,11279123,11230166,11042152,9373149,8889548,8125298,19789366,20872241,20800603,20877624 1302857 10884 NM_016640,AB061211,AC093297,CH471119,CQ782712,AF146192,AF217523,AK074777,AK222704,AK222894,AL136706,AL355715,AL355716,BC002460,BC007735,BU676154,CR591562,CR620326 NP_057724,BAB54961,EAW56076,CAF85946,AAF65227,AAF67634,BAC11202,BAD96424,BAD96614,CAB66641,CAB90810,CAB90811,AAH02460,AAH07735,Q53GN7,Q53H77,Q9BUN6,Q9NP92 Hs.124165 DKFZp566B2024|MRP-S30|PAP|PDCD9|S30mt (HSA)PAP protein|28S ribosomal protein S30, mitochondrial|S30mt|programmed cell death 9|programmed cell death protein 9 protein-coding 1316990 MRPS31 mitochondrial ribosomal protein S31 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq] 1302857,1580863 15057823,12706105,12477932,11279123,16169070,20877624,11984006,15489334,19615732 1302857 10240 NM_005830,AL161614,AL355132,CH471075,AI343737,AI343739,AK315248,AV712217,BC010159,BC022045,CR610235,CR614348,Z68747 NP_005821,CAH72771,CAH70977,EAX08629,BAG37670,AAH22045,CAA92951,Q92665 Hs.596607 IMOGN38|MRP-S31|S31mt 28S ribosomal protein S31, mitochondrial|imogen 38 protein-coding 1344035 MRPS31P1 mitochondrial ribosomal protein S31 pseudogene 1 12706105 351449 NG_002842,AC104307,AY135328 pseudo 4889286 MRPS31P2 mitochondrial ribosomal protein S31 pseudogene 2 12706105 341757 AL359457,AY135329,NG_004674 pseudo 1319435 MRPS33 mitochondrial ribosomal protein S33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq] 1302857,1580863 11279123,17567985,15489334,12853948,12706105,12690205,12477932,10810093,9847074,20877624 1302857 51650 NM_053035,NM_016071,AC006006,CH236950,CH471070,AA743808,AF078858,AF151897,AI305281,AK024776,BC015462,BC105793,BP870829,BQ420818,CR604037,W95986 NP_444263,NP_057155,AAD43190,EAL24022,EAW83966,EAW83967,AAD44490,AAD34134,AAH15462,AAI05794,Q3KRB4,Q9Y291 Hs.416207 CGI-139|FLJ21123|MRP-S33|PTD003 28S ribosomal protein S33, mitochondrial|OTTHUMP00000212181|S33mt protein-coding 1344754 MRPS33P1 mitochondrial ribosomal protein S33 pseudogene 1 12706105,19773279 148330 NG_002830,AL162591,AY135333 pseudo 4144450 MRPS33P2 mitochondrial ribosomal protein S33 pseudogene 2 12706105 359775 AC021106,AY135334,NG_002891 pseudo 4144444 MRPS33P3 mitochondrial ribosomal protein S33 pseudogene 3 12706105 359776 AC093656,AY135335,NG_002892 pseudo 4144448 MRPS33P4 mitochondrial ribosomal protein S33 pseudogene 4 12706105 359777 AL049765,AY135336,NG_002893 pseudo 1313761 MRPS34 mitochondrial ribosomal protein S34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternate splice variants of this gene have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 20877624,17353931,15489334,12706105,12507520,12477932,11279123,10751423,19615732 65993 NM_023936,AC012180,CH471112,BC001182,CR592964,CR592983,CR593200,CR593465,CR594040,CR594183,CR598200,CR601645,CR609675,CR615531,CR615610,CR622418,CR623189 NP_076425,EAW85627,EAW85628,AAH01182,P82930 Hs.720388 MGC2616|MRP-S12|MRP-S34|MRPS12 28S ribosomal protein S34, mitochondrial|S34mt protein-coding 1315499 MRPS35 mitochondrial ribosomal protein S35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq] 1302857,1580863 15300802,11279123,16303743,15489334,12706105,12477932,11543634,11344316,20877624,16344560,19615732 1302857 60488 CR595120,NM_021821,AC009509,CH471094,CS051349,AF068296,AF182422,AK075378,AK075515,AL512733,BC015862,BC017086,BC028346,BC063515,BC109372,CR595157,CR612857,CR624689,CS051169,AI538796,DA747094,NM_001190864 NP_068593,EAW96567,EAW96568,CAI72169,AAF65185,AAG14958,BAC11579,BAC11664,CAC21665,AAH15862,AAH17086,AAH28346,AAH63515,AAI09373,P82673,CAI72080,NP_001177793 Hs.311072 DKFZp762P093|HDCMD11P|MDS023|MGC104278|MRP-S28|MRPS28 28S ribosomal protein S28, mitochondrial|28S ribosomal protein S35, mitochondrial|MRP-S35|S28mt|S35mt|mitochondrial ribosomal protein S28 protein-coding 1351434 MRPS35P1 mitochondrial ribosomal protein S35 pseudogene 1 12706105 339910 NG_002832,AC090842,AY135337 pseudo 4144443 MRPS35P2 mitochondrial ribosomal protein S35 pseudogene 2 12706105 359778 AC094106,AY135338,NG_002894 pseudo 1350185 MRPS35P3 mitochondrial ribosomal protein S35 pseudogene 3 12706105 359779 NG_002895,AC006484,AY135339 pseudo 1319596 MRPS36 mitochondrial ribosomal protein S36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq] 1302857,1580863 17207965,18029348,20877624,11279123,15489334,12706105,12477932 1302857 92259 NM_033281,AC093223,AC145132,CH471137,AA780181,AF086034,AF271777,AL529370,BC015966,BC017900,BX951861,CR600283,CR609840 ADQ33147,NP_150597,EAW51302,EAW51303,AAG44788,AAH15966,AAH17900,P82909 Hs.631971 DC47|MGC22896|MRP-S36 28S ribosomal protein S36, mitochondrial|S36mt protein-coding 1605223 MRPS36P1 mitochondrial ribosomal protein S36 pseudogene 1 12706105 347705 NG_002709,AC023485,AY135340 pseudo 1605222 MRPS36P2 mitochondrial ribosomal protein S36 pseudogene 2 12706105,20339536 347706 NG_002711,AC108865,AY135341 pseudo 1605224 MRPS36P3 mitochondrial ribosomal protein S36 pseudogene 3 12706105 347704 NG_002707,AC037486,AY135342 pseudo 1605226 MRPS36P4 mitochondrial ribosomal protein S36 pseudogene 4 12706105 347702 NG_002703,AP002884,AY135343 pseudo 1605225 MRPS36P5 mitochondrial ribosomal protein S36 pseudogene 5 12706105 347703 NG_002705,AC079319,AY135344 pseudo 1605221 MRPS36P6 mitochondrial ribosomal protein S36 pseudogene 6 12706105 347707 NG_002713,AL121782,AY135345 pseudo 1318020 MRPS5 mitochondrial ribosomal protein S5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq] 1580863 17353931,15489334,14702039,12706105,12477932,11543634,11402041,11344316,11279123,19559069 64969 NM_031902,AC092835,CH471219,AB049940,AK055390,AK058160,BC000219,BC014172,BG771419,CR590932,CR591639,CR602108,CR604157,CR604956,CR617860,CR618194,CR622752,CR626200 NP_114108,AAX88980,EAX10712,EAX10713,BAB40993,BAB71695,AAH00219,AAH14172,P82675,ABM83546,ABM86786 Hs.655259 MRP-S5|S5mt 28S ribosomal protein S5, mitochondrial|mitochondrial 28S ribosomal protein S5 protein-coding 1354008 MRPS5P3 mitochondrial ribosomal protein S5 pseudogene 3 12706105 133615 NG_002662,AC011416,AY135348 pseudo 1352597 MRPS5P4 mitochondrial ribosomal protein S5 pseudogene 4 12706105 359797 NG_002900,AC010928,AY135347,AY135349 pseudo 1312391 MRPS6 mitochondrial ribosomal protein S6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq] 1580863 11279123,19240061,19198609,15489334,14702039,12706105,12477932,12036297,11543634,11402041,17207965,20738937,20877624,20971364,10830953,16169070 64968 NM_032476,AB051347,AP000315,AP000467,CH471079,AB049942,AI799469,AK096374,AK312084,AY061855,BC000547,BC004976,BC010076,BC042752,BC051302,BG720377,CR590691,CR597333,DB571303 NP_115865,BAB54937,EAX09795,EAX09798,BAB40995,BAG35020,AAL35739,AAH00547,AAH04976,AAH10076,P82932,AAH51302,ADQ33169 Hs.302742 C21orf101|MRP-S6|RPMS6|S6mt 28S ribosomal protein S6, mitochondrial protein-coding 4144445 MRPS6P1 mitochondrial ribosomal protein S6 pseudogene 1 12706105 359780 AL355877,AY135350,AY135352,NG_002896 MRPS6P3 pseudo 4144441 MRPS6P2 mitochondrial ribosomal protein S6 pseudogene 2 12706105 359781 AC091610,AY135351,NG_002897 pseudo 4144440 MRPS6P4 mitochondrial ribosomal protein S6 pseudogene 4 12706105 359782 AC024909,AY135353,NG_002898 pseudo 1319351 MRPS7 mitochondrial ribosomal protein S7 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq] 18029348,20877624,17353931,15489334,15342556,12706105,12477932,11543634,11402041,11279123,11042152,10581179,9373149,8889548,8125298 51081 NM_015971,AB051348,AC022211,CH471099,AF077042,AK222995,AK313854,BC000241,BC050641,BG034193,BP379038,BU599633,BU684092,CR599341,CR600124,CR604496,CR608852,CR609316,CR614985,CR615894,CR618302,CR620281,CR626245,CR626657 NP_057055,BAB54938,EAW89261,EAW89262,AAD27775,BAD96715,BAG36582,AAH00241,Q96Q63,Q9Y2R9 Hs.71787 MRP-S|MRP-S7|RP-S7|RPMS7|S7mt|bMRP27a 28S ribosomal protein S7, mitochondrial|30S ribosomal protein S7 homolog|bMRP-27a protein-coding 4144442 MRPS7P1 mitochondrial ribosomal protein S7 pseudogene 1 12706105 359783 AC124076,AY135354,NG_002899 pseudo 1353428 MRPS7P2 mitochondrial ribosomal protein S7 pseudogene 2 12706105 341469 NG_002833,AC073651,AY135355 pseudo 1343907 MRPS8 mitochondrial ribosomal protein S8 1302857 11943462 1302857 1315244 MRPS9 mitochondrial ribosomal protein S9 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. [provided by RefSeq] 1302857 17353931,15300802,11279123,17213182,15489334,14702039,12706105,12477932,11344316,16169070,20877624 1302857 64965 NM_182640,AC010884,AC104655,AC107080,CH471127,AK001451,AK130078,AV729381,BC036575,BC047784,BC057240,CR602949,DT217261 NP_872578,EAX01767,EAX01768,EAX01769,AAH47784,AAH57240,P82933,Q86WV4 Hs.590900 MRP-S9|RPMS9|S9mt 28S ribosomal protein S9, mitochondrial protein-coding 1314201 MRRF mitochondrial ribosome recycling factor 20877624,18782833,15489334,15164053,12477932,10773675,9838146,8889549,7566098,19716793,20379614,17207965 92399 NM_138777,NM_199177,AL162424,CH471090,AK291603,AK291809,AK292790,AK300718,AK310974,BC002814,BC013049,BC053604,BF982227,CR612198,CR622699,CR624784,NM_001173512 NP_620132,NP_954646,CAI14707,CAI14708,CAI14711,CAI14712,CAI14713,EAW87520,EAW87521,EAW87522,EAW87523,EAW87524,EAW87525,EAW87526,EAW87527,EAW87528,BAF84292,BAF84498,BAF85479,BAH13333,AAH13049,AAH53604,Q96E11,NP_001166983,ADQ31837 Hs.368011 MRFF|MTRRF|RRF OTTHUMP00000022037|OTTHUMP00000022040|OTTHUMP00000022043|ribosome-recycling factor, mitochondrial|ribosome-releasing factor, mitochondrial protein-coding 2306585 MRRFP mitochondrial ribosome recycling factor pseudogene 286423 NG_005178,Z83848 CAI95712,Q4TT42 MRRFP|RP1-57A13.2 pseudo 732788 MRS2 MRS2 magnesium homeostasis factor homolog (S. cerevisiae) 1580863 19270501,19242098,18384665,15489334,15342556,14702039,14574404,12477932,11401429,9110174,8619474,20877624,17207965 57380 BC001028,BC018833,BC069009,BP338269,CR612692,CR618724,AF052167,AF288288,AF293076,AK054587,AK291058,AK297418,AK298849,AK299825,CH471087,NM_020662,AF293077,AF293078,AL359713 AAH01028,AAH69009,Q96KF9,Q9HD23,EAW55445,EAW55446,EAW55447,AAG01170,AAK38615,BAG51394,BAF83747,BAG59851,BAG60974,BAG61694,NP_065713,AAK38616,AAK38617,CAI17107,CAI17108,CAI17109,ADQ32050 Hs.658612 HPT|MGC78523|MRS2L MRS2-like protein|MRS2-like, magnesium homeostasis factor|OTTHUMP00000016086|magnesium transporter MRS2 homolog, mitochondrial protein-coding 2299195 MRS2P2 MRS2 magnesium homeostasis factor homolog (S. cerevisiae) pseudogene 2 729633 NR_024072,AC089984,AY333753 Hs.716256 pseudo 1349842 MRSD mental retardation-skeletal dysplasia 4364 1350863 MRT2A mental retardation, non-syndromic, autosomal recessive, 2A 10932263 266597 1323307 MRTO4 mRNA turnover 4 homolog (S. cerevisiae) This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq] 17082780,18029348,16710414,15489334,15342556,14702039,12477932,12429849,11790298,19797078,20083226,20379614 51154 NM_016183,AL035413,CH471134,AF173378,AK024227,AK027569,AK295328,AY303790,BC003013,BC006504,BP312953,BQ670859 NP_057267,CAI22233,EAW94873,EAW94874,EAW94875,AAD52608,BAG51275,BAB55205,BAG58304,AAP68821,AAH03013,AAH06504,Q9UKD2 Hs.463797 C1orf33|MRT4|dJ657E11.4 60S acidic ribosomal protein PO|MRT4, mRNA turnover 4, homolog|chromosome 1 open reading frame 33|mRNA turnover protein 4 homolog|ribosomal protein, large, P0-like protein-coding 1320377 MRVI1 murine retrovirus integration site 1 homolog This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is downregulated during lymphoid differentiation. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, few of which initiate translation at a non-AUG (CUG) start site. [provided by RefSeq] 1580863 10321731,18029348,16990611,16344560,16166082,14729908,14702039,12480535,12477932,11309393,10724174,2271613,1538749,20567233,20080650,20379614,20526338 10335 AL117524,AL603309,AL832178,BC117127,DA127310,DA163499,DA185715,DA797538,DB132030,DB167290,NM_001100163,NM_001100167,NM_001098579,AC009532,CH471064,AF081249,AF081250,AK002039,AK127209,AK296336,AK300358,AK301296,AK304702,AL044056,NM_130385 AAI17128,Q9Y6F6,ADR83074,NP_569056,NP_001093633,NP_001093637,NP_001092049,EAW68559,EAW68560,EAW68561,EAW68562,EAW68563,AAD25922,AAD25923,BAH12320,BAH13268,BAH13451,BAH14239 Hs.501898 IRAG|JAW1L IP3R-associated cGMP kinase substrate|JAW1-related protein MRVI1|inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrate|inositol 1,4,5-triphosphate-associated cGMP kinase substrate|protein MRVI1 protein-coding 1349118 MRX1 mental retardation, X-linked 1 (non-dysmorphic) 3177466,1605216 4365 1346923 MRX10 mental retardation, X-linked 10 1605216 4374 1351389 MRX11 mental retardation, X-linked 11 1605216 4375 1349536 MRX12 mental retardation, X-linked 12 1605216 4376 1344586 MRX13 mental retardation, X-linked 13 1605216 4377 1342752 MRX14 mental retardation, X-linked 14 8026106 4378 1346270 MRX15 mental retardation, X-linked 15 8826458 4379 1348880 MRX16 mental retardation, X-linked 16 9222958 4380 1351501 MRX17 mental retardation, X-linked 17 7943039 4381 1352610 MRX18 mental retardation, X-linked 18 7943039 4382 1343365 MRX19 mental retardation, X-linked 19 7943043 4383 1347738 MRX2 mental retardation, X-linked 2 (non-dysmorphic) 3177465,1605216 4367 1348022 MRX20 mental retardation, X-linked 20 7573127 4384 1352032 MRX21 mental retardation, X-linked 21 8230164 4385 1353071 MRX22 mental retardation, X-linked 22 4386 1351396 MRX23 mental retardation, X-linked 23 8852668 4387 1346341 MRX24 mental retardation, X-linked 24 7726242 4388 1344369 MRX25 mental retardation, X-linked 25 1362558 4389 1351625 MRX26 mental retardation, X-linked 26 8826459 4390 1349721 MRX27 mental retardation, X-linked 27 8826461 4391 1344038 MRX28 mental retardation, X-linked 28 8826462 4392 1348148 MRX29 mental retardation, X-linked 29 9001795 4393 1345127 MRX3 mental retardation, X-linked 3 4368 1342773 MRX31 mental retardation, X-linked 31 8826460 4395 1346336 MRX32 mental retardation, X-linked 32 8826457 4396 1349429 MRX33 mental retardation, X-linked 33 8826462 4398 1344151 MRX35 mental retardation, X-linked 35 8825049 4400 1348398 MRX36 mental retardation, X-linked 36 4401 1350718 MRX37 mental retardation, X-linked 37 8826456 4402 1343421 MRX38 mental retardation, X-linked 38 8826457 4403 1347024 MRX39 mental retardation, X-linked 39 4404 1345153 MRX4 mental retardation, X-linked 4 3177465,1605216 4366 1349391 MRX40 mental retardation, X-linked 40 7581391 4405 1342788 MRX42 mental retardation, X-linked 42 4406 1346244 MRX43 mental retardation, X-linked 43 10398246 4407 1350766 MRX44 mental retardation, X-linked 44 10398246 4408 1354129 MRX45 mental retardation, X-linked 45 10398246 4409 1347536 MRX47 mental retardation, X-linked 47 9332663 4411 1344090 MRX49 mental retardation, X-linked 49 9415477 4412 1352994 MRX5 mental retardation, X-linked 5 1673297,1605216 4369 1351965 MRX50 mental retardation, X-linked 50 9415477 4413 1348467 MRX51 mental retardation, X-linked 51 10398244 4414 1346622 MRX52 mental retardation, X-linked 52 10398246 4415 1343090 MRX53 mental retardation, X-linked 53 4416 1353684 MRX54 mental retardation, X-linked 54 10398243 4417 1350356 MRX55 mental retardation, X-linked 55 9599645 4418 1348299 MRX56 mental retardation, X-linked 56 4419 1344831 MRX57 mental retardation, X-linked 57 4420 1348445 MRX58 mental retardation, X-linked 58 10449641 4421 1348336 MRX59 mental retardation, X-linked 59 10398241 4422 1346420 MRX6 mental retardation, X-linked 6 (Okinawa type) 1605216 4370 1346876 MRX60 mental retardation, X-linked 60 4423 1344401 MRX61 mental retardation, X-linked 61 4424 1352478 MRX62 mental retardation, X-linked 62 4425 1349894 MRX63 mental retardation, X-linked 63 4426 1351278 MRX64 mental retardation, X-linked 64 9222958 4427 1343065 MRX65 mental retardation, X-linked 65 10398247 4428 1344436 MRX66 mental retardation, X-linked 66 23700 1353838 MRX67 mental retardation, X-linked 67 23699 1349954 MRX68 mental retardation, X-linked 68 23698 1346898 MRX69 mental retardation, X-linked 69 23697 1343370 MRX7 mental retardation, X-linked 7 1605216 4371 1349994 MRX70 mental retardation, X-linked 70 23696 1344803 MRX72 mental retardation, X-linked 72 11050621 23695 1348254 MRX73 mental retardation, X-linked 73 11477616 23694 1352081 MRX74 mental retardation, X-linked 74 23693 1344865 MRX75 mental retardation, X-linked 75 10946355 89760 1346843 MRX76 mental retardation, X-linked 76 57193 1348650 MRX77 mental retardation, X-linked 77 12949971 93991 1353449 MRX78 mental retardation, X-linked 78 170530 1346839 MRX79 mental retardation, X-linked 79 12325019 353505 1343830 MRX8 mental retardation, X-linked 8 1605216 4372 1351127 MRX80 mental retardation, X-linked 80 12949969 378483 1346112 MRX81 mental retardation, X-linked 81 12673650 266678 1342815 MRX82 mental retardation, X-linked 82 15526294 378484 1352445 MRX84 mental retardation, X-linked 84 15326629 378882 1344112 MRX86 mental retardation, X-linked 86 1351748 MRX9 mental retardation, X-linked 9 1605216 4373 1343284 MRXS10 mental retardation, X-linked, syndromic 10 50828 1352701 MRXS11 mental retardation, X-linked, syndromic 11 10677307 50644 1346143 MRXS7 mental retardation, X-linked, syndromic 7 4429 1343315 MS multiple sclerosis 1383661 4397 1323750 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq] 1580863,2316995,2316994 7920628,18029348,1535625,19513562,19513512,19246561,19211644,19153665,19136769,19111631,19054557,18652276,18426802,18346788,18324964,21048031,20674973,20815894,20350657,20660329,18095154,18006839,17712791,17362749,17336267,17299094,17268523,17000895,16923582,16923555,16285718,16095505,15927668,15638430,15489334,15480506,14976189,12920111,12835728,12704213,12603599,12477932,12447967,12393541,12218101,12144126,12075439,11169444,9933087,9814732,9373149,9169438,8816400,8701937,8325649,8125298,7684739,7678037,7545683,3871452,3260267,3117132,2466899,2466898,2456210,2448768,19000453,19207312,19276251,19641607,20038800,20237496,20354182,20191119,20641064 2316995,2316994 931 NM_152866,NM_021950,AP001034,AP003127,CH471076,L23415,L23418,L23419,M27394,M27395,AK225630,AK292168,AK300025,AK310118,AW504475,BC002807,CD691924,CR617832,X07203,X07204,X12530,NG_023388 NP_690605,NP_068769,EAW73889,EAW73890,EAW73891,EAW73892,AAA88911,AAA35581,BAF84857,BAG61836,AAH02807,CAA30179,CAA30180,CAA31046,P11836,ABM84433,ABM87498 Hs.712553 B1|Bp35|CD20|CVID5|LEU-16|MGC3969|MS4A2|S7 B-lymphocyte antigen CD20|B-lymphocyte cell-surface antigen B1|B-lymphocyte surface antigen B1|CD20 antigen|CD20 receptor|leukocyte surface antigen Leu-16 protein-coding 1316696 MS4A10 membrane-spanning 4-domains, subfamily A, member 10 Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM] 11486273,11401424,11245982,12477932 341116 NM_206893,AF354934,AF354935,AP004243,CH471076,AK122633,BC137259,BC137263 NP_996776,AAL07361,AAL07362,EAW73900,BAC85498,AAI37260,AAI37264,Q96PG2 Hs.591956 CD20L7|FLJ16054|MS4A9 CD20 antigen-like 7|membrane-spanning 4-domains subfamily A member 10 protein-coding 1316189 MS4A12 membrane-spanning 4-domains, subfamily A, member 12 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18451174,15489334,15342556,14702039,12477932,11486273,11401424,19781065,17207965 54860 NM_017716,NM_001164470,AP001034,CH471076,AK000224,BC029793,BP262076,BP262976 NP_060186,NP_001157942,EAW73893,BAA91020,AAH29793,Q9NXJ0,ADQ31896 Hs.272789 Ms4a10 membrane-spanning 4-domains subfamily A member 12 protein-coding 1606059 MS4A13 membrane-spanning 4-domains, subfamily A, member 13 12477932 503497 NM_001012417,NM_001100909,AP001034,AY324188,AY324189,AY324190,BC140799,BC171746 Q5J8X5,NP_001012417,NP_001094379,AAQ94112,AAQ94113,AAQ94114,AAI40800,AAI71746 Hs.523704 membrane-spanning 4-domains subfamily A member 13|testis-expressed transmembrane protein 4|testis-expressed transmembrane-4 protein protein-coding 1606761 MS4A14 membrane-spanning 4-domains, subfamily A, member 14 14702039,12477932,11382755,20237496 84689 NM_001079692,AP003127,CH471076,AF367473,AK057418,AK314674,AL137391,AY094610,AY094611,AY584610,BC035361,BC064627,BC107431,BC121039,BC121040,NM_032597 NP_115986,NP_001073160,EAW73884,EAW73885,EAW73886,AAK53409,CAB70719,AAM48587,AAM48588,AAV91959,AAI07432,Q96JA4,AAI60053 Hs.709736 MGC104289|MGC49828|MS4A16|NYD-SP21 MS4A13 protein|membrane-spanning 4-domains subfamily A member 14|membrane-spanning 4-domains, subfamily A, member 16|testes development-related NYD-SP21|testis development protein NYD-SP21 protein-coding 1603162 MS4A15 membrane-spanning 4-domains, subfamily A, member 15 16554811,15489334,14702039,12477932,11181995,20595579 219995 NM_001098835,NM_152717,AP004243,CH471076,AK091846,AK300233,AY584608,AY584609,BC031610,BI818815,CR747020,DC359370 NP_001092305,NP_689930,EAW73898,EAW73899,BAG62001,AAV91957,AAV91958,AAH31610,Q8N5U1 Hs.207465 FLJ34527|MGC35295 membrane-spanning 4-domains subfamily A member 15 protein-coding 1350443 MS4A16 membrane-spanning 4-domains, subfamily A, member 16 414354 3457221 MS4A18 membrane-spanning 4-domains, subfamily A, member 18 728588 AP004243,XM_001715696,XM_001716197 Q3C1V0,XP_001715748,XP_001716249 membrane-spanning 4-domains subfamily A member 18|membrane-spanning 4-domains, subfamily A, member 18 protein-coding 1350065 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of family members. Alternative splicing results in multiple transcript variants encoding different isoforms. 1599903,1580863 19913121,20536507,20628086,16344560,19416867,19356729,19559392,19824886,19862939,19948975,20028371,20085599,20358027,20395963,20503287,20703737,20716621,21061265,19796196,9169438,2448768,19514647,19479237,19288130,19264973,19258923,19247692,19218813,19131662,19028820,18974840,18949059,18931892,18691306,18579528,18534082,18379861,18269668,17703412,17686114,17430357,17178032,17121586,17088130,17014622,16867043,16839402,16839401,16750991,15953854,15528387,15489334,15479187,15453830,15316148,15087090,14687477,12919239,12903039,12753743,12477932,12422339,12393595,12217393,12082592,12047428,11758232,11702205,11447385,11368631,11245344,11150000,11142503,11134951,9379041,9341761,8995445,8968765,8842731,8817330,8805698,8188278,8094113,8071371,7920628,7612892,7528770,2146219,1535625,1533242,12697656,1386024 1599903 2206 DA972757,GD138492,NG_016014,NM_000139,AB042033,AB080913,AP001181,CH471076,M89796,AK304487,AK310142,BC074800,BC074843,D10583,X66187 NP_000130,BAB17032,BAC66486,EAW73865,AAA60269,BAG65297,AAH74800,AAH74843,BAA01440,CAA46955,Q01362,Q14298 Hs.386748 APY|ATOPY|FCER1B|FCERI|IGEL|IGER|IGHER|MS4A1 High affinity immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE Fc receptor, beta-subunit) (Fc epsilon receptor I beta-chain)|high affinity immunoglobulin epsilon receptor subunit beta|igE Fc receptor subunit beta|immunoglobulin E receptor, high affinity, beta polypeptide|membrane-spanning 4-domains subfamily A member 2 protein-coding 1321597 MS4A3 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1580863 15671017,15489334,12477932,11781350,11486273,11401424,7524084,20800603,20237496,20677014,17207965 932 NM_006138,NM_001031809,NM_001031666,AP000790,AY258289,CH471076,AL601630,AY095480,BC008487,BE564041,BF210971,BG495577,CR612051,L35848 Q96HJ5,NP_006129,NP_001026979,NP_001026836,AAP14648,EAW73863,EAW73864,AAM23312,AAH08487,AAA62319,ADQ31573 Hs.99960 CD20L|HTM4 CD20 antigen homolog|CD20 antigen-like protein|IgE receptor beta chain|IgE receptor beta subunit|hematopoietic cell 4 transmembrane protein|hematopoietic-specific transmembrane protein 4|membrane-spanning 4-domains subfamily A member 3 protein-coding 1315944 MS4A4A membrane-spanning 4-domains, subfamily A, member 4 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Alternative splicing of this gene results in several transcript variants; however, not all transcripts have been fully described. [provided by RefSeq] 1580863 16303743,15489334,12477932,11486273,11401424,11245982 51338 NM_148975,NM_024021,AP003127,AP003970,CH471076,AB013102,AB022821,AF068288,AF237912,AF350500,AF354928,AK075081,AK292089,AK314033,BC020648,CR605689,CR622830 NP_683876,NP_076926,EAW73873,EAW73874,EAW73875,BAB18738,BAB61018,AAF65507,AAK37594,AAL56220,AAL08486,BAC11389,BAF84778,BAG36743,AAH20648,Q4JF27,Q96JQ5,ABM82321,ABM85499 Hs.325960 4SPAN1|CD20-L1|CD20L1|HDCME31P|MGC22311|MS4A4|MS4A7 CD20 antigen-like 1|Fc epsilon receptor beta subunit homolog|four-span transmembrane protein 1|membrane-spanning 4-domains subfamily A member 4A|membrane-spanning 4-domains, subfamily A, member 4A protein-coding 1344858 MS4A4B membrane-spanning 4-domains, subfamily A, member 4B 11401424 83665 AF237913 1348230 MS4A4C membrane-spanning 4-domains, subfamily A, member 4C 11245982,11401424 64228 AF237914 1344823 MS4A4D membrane-spanning 4-domains, subfamily A, member 4D 11401424 83664 AF237915 1348228 MS4A4E membrane-spanning 4-domains, subfamily A, member 4E Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM] 1580863 11486273,20379614 643680 XM_931886,XM_943348,XM_001718672,AF354936,AP003970,AB231725,AB231726,AB231727,AB231728,AB231729,AB231730,AB231731,AK300102,XM_003119183,XM_003119500,XM_003120697 XP_936979,XP_948441,XP_001718724,AAL07363,BAE46883,BAE46884,BAE46885,BAE46886,BAG61901,Q96PG1,XP_003119231,XP_003119548,XP_003120745 Hs.559934 membrane-spanning 4-domains, subfamily A, member 4E protein-coding 1350963 MS4A5 membrane-spanning 4-domains, subfamily A, member 5 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq] 1580863 20237496,15489334,12477932,11486273,11401424,11245982,11162526 64232 NM_023945,AP003127,CH471076,CS072269,AB013103,AF237907,AF321127,BC029884,HC007172,HC044577 NP_076434,EAW73887,EAW73888,CAI93407,BAB18739,AAK37416,AAK01641,AAH29884,Q9H3V2,CBH19391,CBH30618 Hs.178066 CD20-L2|CD20L2|MGC34184|TETM4 CD20 antigen-like 2|membrane-spanning 4-domains subfamily A member 5|testis-expressed transmembrane protein 4|testis-expressed transmembrane-4 protein protein-coding 1323386 MS4A6A membrane-spanning 4-domains, subfamily A, member 6A This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants. [provided by RefSeq] 1580863 15489334,12477932,11486273,11401424,11245982,20237496,20453000 64231 AK301387,NM_022349,AP003970,CH471076,AB013104,AF142409,AF172819,AF212240,AF237908,AF253977,AF261136,AF286866,AF350502,AF350503,AF354930,AK026454,AK291870,AK300725,NM_152851,BC022854,BC108728,CR606472,CR609705,CR612280,CR625448,NM_152852 BAG62926,NP_690591,NP_690590,NP_071744,EAW73866,EAW73867,EAW73868,EAW73869,EAW73870,EAW73871,EAW73872,BAB18740,AAG27920,AAQ13613,AAG41780,AAK37417,AAG44626,AAG44672,AAK37994,AAL56222,AAL56223,AAL07357,BAF84559,BAG62398,AAH22854,AAI08729,Q32NC2,Q7Z4E8,Q9H2W1,ABM84437,ABM87483 Hs.523702 4SPAN3|4SPAN3.2|CD20L3|CDA01|MGC131944|MGC22650|MS4A6|MST090|MSTP090 CD20 antigen-like 3|CD20-like precusor|HAIRB-iso|MS4A6A-polymorph|four-span transmembrane protein 3|four-span transmembrane protein 3.1|four-span transmembrane protein 3.2|membrane-spanning 4-domains subfamily A member 6A|membrane-spanning 4-domains, subfamily A, member 6A, isoform 2 protein-coding 1347097 MS4A6B membrane-spanning 4-domains, subfamily A, member 6B 11401424 83663 AF237909 1350589 MS4A6C membrane-spanning 4-domains, subfamily A, member 6C 11401424 83662 AF237910 1352118 MS4A6D membrane-spanning 4-domains, subfamily A, member 6D 11245982,11401424 64234 AF237911 1345095 MS4A6E membrane-spanning 4-domains, subfamily A, member 6E This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq] 1580863 17207965,15489334,12477932,11486273 245802 NM_139249,AP003127,CH471076,AF333758,AF354931,AF354932,AF354933,BC034588,BC069322,BC101783,HC007174 ADQ32925,NP_640342,EAW73876,AAQ14868,AAL07358,AAL07359,AAL07360,AAH34588,AAH69322,AAI01784,Q96DS6,ACT64587,ACT64588,CBH19392 Hs.662211 MGC126832 membrane-spanning 4-domains subfamily A member 6E protein-coding 1313641 MS4A7 membrane-spanning 4-domains, subfamily A, member 7 This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq] 1580863 16303743,15489334,14702039,12477932,11752456,11685457,11486273,11401424,11245982,16169070,20379614 58475 AF201951,AF237916,AF309653,AF350501,AK075106,AK297027,AK309884,AV685115,AV690480,BC020673,CA449361,CD518120,CD706728,CR457187,NM_021201,NM_206938,NM_206939,NM_206940,AP003127,CH471076,CQ783142,AB026043 BAB18755,AAF17243,AAK37599,AAG30930,AAL56221,BAC11405,BAG59556,AAH20673,CAG33468,Q9GZW8,ABM85500,NP_067024,NP_996821,NP_996822,NP_996823,EAW73877,EAW73878,EAW73879,EAW73880,EAW73881,EAW73882,EAW73883,CAF86349 Hs.530735 4SPAN2|CD20L4|CFFM4|MGC22368|MS4A8 CD20 antigen-like 4|CD20/Fc-epsilon-RI-beta family member 4|four-span transmembrane protein 2|high affinity immunoglobulin epsilon receptor beta subunit|membrane-spanning 4-domains subfamily A member 7 protein-coding 1345611 MS4A8A membrane-spanning 4-domains, subfamily A, member 8A 11245982 64229 AB026044 1319151 MS4A8B membrane-spanning 4-domains, subfamily A, member 8B This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq] 1580863 15489334,12477932,11486273,11401424,11245982,17207965 83661 NM_031457,AP004243,CH471076,AF237905,AF350504,AK308413,AK310872,AK310884,AK310969,AK315901,BC022895 NP_113645,EAW73897,AAK37414,AAL56224,BAF98792,AAH22895,Q9BY19,ADQ32253 Hs.150878 4SPAN4|MS4A4 four-span transmembrane protein 4|membrane-spanning 4-domains subfamily A member 8B protein-coding 1342483 MSBP1 minisatellite binding protein 1 3243550 4431 1348826 MSBP2 minisatellite binding protein 2, 77kDa 2062643 4432 1346252 MSBP3 minisatellite binding protein 3, 115kDa 2062643 4433 1313556 MSC musculin (activated B-cell factor-1) The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq] 1580863 9584154,18368067,16344560,16189514,15489334,15052269,12477932,11560778,10198176,9767165,8889548,20634891 9242 NM_005098,AC104012,CH471068,AF060154,AF087036,AK313102,BC006313,BC067827,BM685164,BT007169,CR593021,CR594663,CR622554,DB257094 NP_005089,EAW86984,AAC15071,AAC69870,AAH06313,AAH67827,AAP35833,O60682 Hs.442619 ABF-1|ABF1|MYOR|bHLHa22 activated B-cell factor 1, homolog of mouse musculin|activated B-cell factor-1|class A basic helix-loop-helix protein 22|musculin protein-coding 1347317 MSD microcephaly with spastic diplegia (Paine syndrome) 4434 1602271 MSGN1 mesogenin 1 11181995,10837126 343930 NM_001105569,AC093731,CH471053 NP_001099039,EAX00863,A6NI15,AAI72301 Hs.705359 MSOG mesogenin-1|pMesogenin1|paraxial mesogenin protein-coding 732745 MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. [provided by RefSeq] 2298950,2298951,2293507,2293517,2293519,2293516,2293523,2293505,2293511,2293524,2293528,2293506,2293514,2293504,2293509,2293512,2293513,2306716,2293502,2293503,2293515,2306714,1580863,1625106 18955159,18951462,18950845,18949393,18931482,18841495,18830263,18822302,18787700,18781619,18781192,18772310,18759827,18726168,18723338,18713544,18708397,18676680,18674656,18646042,18641418,18635600,18629513,18624996,18623088,18581137,18567801,18566915,18561205,18554281,18547406,18543228,18514060,18481196,18470917,18406877,18393252,18381419,18364438,18335504,18331286,18326858,18325052,18299982,18289827,18270343,18270339,18265677,18265645,18257912,18202787,18186537,18181177,18091433,18061181,18033691,17987798,17982623,18972272,17942459,17939062,17922223,17894833,17785078,17720936,17711772,17661183,17653898,17652529,17611581,17601929,17582678,17569143,17566596,17531106,17505997,17493242,17483304,17479411,17473388,17454882,17426439,17417778,17414604,17407090,17367211,17351251,17350822,17348456,17333219,17312306,17275176,17259174,17250661,17228328,17224235,17219447,17165155,17160686,17139886,17109103,17095871,17076561,17051350,17039271,17039269,17011982,16995940,16985024,16951290,16940983,16929514,16918138,16908935,16902769,16885385,16874859,16810763,16807412,16786121,16774946,16773692,16740762,16696788,16684085,16636019,16614121,16569647,16541406,16500024,16451135,16426918,16353134,16341550,16331552,16252083,16237223,16234028,16203774,16199548,16143124,16116158,16106253,16086322,16061855,16051665,16012876,16003840,15996210,15959913,15952990,15904475,15886699,15870899,15862756,15858146,15856462,15855819,15849733,15832775,15831578,15816455,15808853,15807307,15786548,15782118,15774782,15735976,15713769,15696491,15613860,15596632,15571801,15527911,15523694,15520370,15503820,15489334,15467751,15467433,15467428,15375803,15365996,15365995,15350299,15342696,15340264,15309712,15241839,15216397,15200905,15161053,15064730,15063132,15062061,15043999,15043284,15042510,15015769,14961575,14760534,14716824,14714570,14676842,14657349,14645426,14635101,14631366,14580774,14574163,14562278,14529665,14526391,14500385,14499697,12938096,12930688,12920342,12912950,12817878,12810667,12808326,12799449,12792735,12754350,12712438,12697969,12694232,12688322,12684691,12684669,12660027,12658575,12632492,12627520,12622604,12610360,12595050,12584560,12582944,12549480,12522549,12494471,12477932,12469220,12454801,12447371,12419761,12414623,12391284,12203789,12171929,12124176,12095971,11999575,11920650,11920468,11910346,11890986,11879922,11877377,11859209,11857745,11857301,11809679,11782355,11748856,11726306,11606497,20373145,20731661,20850175,20931542,21056691,21070872,20332274,20672385,11600610,11579115,11562928,11555625,11531323,11524701,11498787,11474654,11429708,11427529,11208710,11158177,11104559,10978353,10874318,10856833,10783165,10777691,10713887,10693791,10612836,10528862,10469597,10051005,10023327,9843200,9788596,9777949,9774676,9740671,9718327,9709044,9621522,9559627,9490293,9428522,9373149,9311737,9298827,9259192,9240418,9217825,9111864,9087566,9060003,9048925,9024626,8993976,8872463,8858149,8797773,8769132,8723682,8700523,8690195,8566964,8484120,8261515,8252616,8156592,8125298,8062247,8036718,7973733,7874129,7726159,7713503,7604264,7585562,7585546,4016686,10029069,15647386,17353931,15105434,16403449,8942985,12034830,11809883,11756455,11801590,14706347,16388310,7923193,17715146,19635727,19622357,19621678,19536092,19526325,19486659,19419416,19418671,19390556,19383374,19377479,19351817,19337631,19291797,19267393,19254532,19244167,19237606,19237577,19228687,19215248,19207881,19160096,19132747,19115210,19100506,19098912,19075283,19074885,19064572,19062740,19034977,19032668,15619620,15753043,11799067,16713580,17148452,19015241,19170196,19423266,19464205,19582509,19596235,19615732,19621725,19625176,19639020,19669601,19685281,19692168,19697156,19707776,19720893,19723918,19728162,19741564,19759184,19760518,19818066,19861671,19876921,19888426,19898223,19900449,19911012,19930554,19950599,20004149,20028567,20056646,20064472,20072951,20085707,20095990,20150366,20154325,20160730,20181625,20201926,20206180,20210238,20305446,20368715,20379614,20388775,20403997,20437058,20438357,20453000,20458443,20496165,8168125,9207118,20564624,19525234,20505253,19714462,20090515,20591884,20708344,19394292,19468048,20846263,21091774 2298950,2298951,2293507,2293517,2293519,2293516,2293523,2293505,2293511,2293524,2293528,2293506,2293514,2293504,2293509,2293512,2293513,2306716,2293502,2293503,2293515,2306714,1625106 4436 L47574,L47575,L47576,L47577,L47578,L47579,L47580,L47581,L47582,L47583,U03911,U04045,DQ648897,NM_000251,NG_007110,AC079775,AC138655,AF066081,AY344477,AY601851,CH471053,U41221,AK222860,AK223284,AK296831,AK297763,AK299667,AK304496,AK311330,BC001122,BC012599,BC021566,BX649122,DQ648894,DQ648895,DQ648896 ABG49492,AAB59566,AAB59567,AAB59568,AAB59569,AAB59570,AAB59571,AAB59572,AAA76858,AAB59565,AAB59564,AAA18643,AAA61870,P43246,Q0ZAI9,Q0ZAJ0,Q0ZAJ1,Q0ZAJ2,Q53FK0,Q53GS1,Q53RU4,Q6VBB7,ABM83484,ABM86698,NP_000242,AAY15096,AAC27930,AAQ23475,AAS99351,EAX00213,EAX00214,EAX00215,AAA82080,BAD96580,BAD97004,BAG59401,BAG60111,BAG61581,BAG65304,AAH21566,ABG49489,ABG49490,ABG49491 Hs.597656 COCA1|FCC1|HNPCC|HNPCC1|LCFS2 DNA mismatch repair protein Msh2|OTTHUMP00000200306|hMSH2|mismatch repair protein|mutS protein homolog 2 protein-coding 1353031 MSH3 mutS homolog 3 (E. coli) 2306716,1625103,1600456,1580863 8942985,11809883,11756455,11005803,11427529,14657349,16388310,8782829,17715146,19377479,19237606,19115210,19064572,18922920,18723338,18701435,18683134,18676680,18364438,18355840,17950544,17676485,17494052,17456004,17205513,16774946,16552576,20708618,15489334,14871813,14625810,14510941,12477932,12014680,11920679,11895912,10944853,10871409,8851770,8838312,8029024,6323448,2722860,10029069,9774676,12171929,11274057,14578343,11498787,15541380,17148452,19170196,19536092,19596235,19625176,19692168,19730683,19894224,19948975,20154325,20160730,20379614,20453000,20496165,19525234,20632816,20869096,19913121,20628086,19468048 2306716,1625103,1600456 4437 NM_002439,AC008434,AC010270,AC022493,AY275681,CH471084,D61419,AA601983,AI817671,AK289856,BC004177,BC011817,BC017273,BC098436,BC130434,BC130436,BF593920,J04810,U61981,NG_016607 NP_002430,AAP13535,EAW95861,EAW95862,BAD27111,BAF82545,AAH11817,AAI30435,AAI30437,AAB47281,P20585,AAB06045 Hs.280987,Hs.648635 DUP|MGC163306|MGC163308|MRP1 DNA mismatch repair protein Msh3|divergent upstream protein|hMSH3|mismatch repair protein 1 protein-coding 1319392 MSH4 mutS homolog 4 (E. coli) 1580863 9299235,19064572,18270339,18166824,17977839,17869244,17127347,16122992,15907804,15489334,12591739,12477932,12095912,11948175,10809667,10928988,10029069,9787078,15304223,11950880,20378615 4438 NM_002440,AL357314,AL445464,AY268350,CH471059,AF104243,AJ844635,BC033030,U89293 NP_002431,CAI22394,CAH71812,AAP03427,EAX06392,EAX06393,AAD17920,CAH59752,AAH33030,AAB72039,O15457,Q5ZEZ0,ABM82185,ABM85371 Hs.216639 hMSH4|mutS protein homolog 4 protein-coding 1343663 MSH5 mutS homolog 5 (E. coli) This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair or meiotic recombination processes. This protein is similar to a Saccharomyces cerevisiae protein that participates in meiotic segregation fidelity and crossing-over. This protein forms heterooligomers with another member of this family, mutS homolog 4. Alternative splicing results in four transcript variants encoding three different isoforms. [provided by RefSeq] 1580863 9916805,9740671,9787078,19143821,19143814,18978787,18459961,18270339,18166824,17977839,17869244,17672918,17409188,17127347,16122992,15907804,15489334,14718574,14702039,14574404,12477932,10029069,8812450,2477242,12591739,15304223,16712791,20185565,14656967,18204446,19442657,19808033,19851445,20378615,20542071,20587610,20848568 4439 CR354443,CR759787,CR759915,CR925765,CR936239,AB209886,AF034759,AF048986,NM_002441,NM_025259,NM_172165,NM_172166,NG_011611,AF048991,AF070079,AF129756,AF134726,AL662834,AL662899,AL844216,AY943816,BA000025,BX248133,BX248244,CH471081,AF070071,AK097233,AK303129,AK304221,BC001358,BC002498,BC041031,BG719397,BT007200,CB155199,BF116106,DB448226 EAX03510,EAX03511,EAX03512,EAX03513,EAX03514,EAX03515,EAX03516,EAX03517,EAX03518,EAX03519,EAX03520,CAQ10116,CAQ10117,CAQ10118,CAQ10619,CAQ10620,CAQ10621,CAQ08900,CAQ08901,CAQ08902,BAD93123,AAB87632,EAX03509,NP_002432,NP_079535,NP_751897,NP_751898,AAC62534,AAC70067,AAD18072,AAD21822,CAI17722,CAI17723,CAI17724,CAI17726,CAM24984,CAI18422,CAI18423,CAI18424,CAI18426,CAM25670,CAM25671,CAM25672,AAX20111,BAB63375,EAX03506,EAX03507,EAX03508,AAC70066,BAG53438,BAG64235,BAG65093,AAH01358,AAH02498,AAH41031,AAP35864,O43196,Q59EC5,Q5SSR2,Q9UFG2,Q9UMP2,AAC62533,CAQ07243,CAQ07244,CAQ07245,CAQ07246,CAQ07247,CAQ07248,CAQ10115,CAQ10119,CAQ10120,CAQ10121 Hs.647011 DKFZp434C1615|G7|MGC2939|MUTSH5|MutSH5|NG23 OTTHUMP00000215252|OTTHUMP00000215278|hMSH5|mutS protein homolog 5 protein-coding 1321738 MSH6 mutS homolog 6 (E. coli) This gene encodes a protein similar to the MutS protein. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides, prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein of this gene combines with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene have been identified in individuals with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer. [provided by RefSeq] 2293507,2293511,2293502,2306716,2293503,2293505,2306714,1625103,1580863,1625106,1600460,4143515 15105434,16403449,12034830,8942985,11809883,11756455,11801590,11005803,14657349,16388310,17715146,19635727,19622357,19536092,19526325,19492230,19337631,19254532,19248684,19244167,19237606,19237577,19215248,19173809,19486659,19351817,19132747,19115210,19075283,19064572,19012493,18972272,18950845,18851982,18841495,18790734,18759827,18723338,18701435,18676680,18625694,18624996,18566915,18554281,18523027,18514060,18484749,18481196,18409202,18364438,18355840,18326858,18301448,18269114,18257912,18091433,18065960,18033691,18030674,17942459,17920897,17854147,17785078,17718861,17676485,17653898,17557300,17498565,17493242,17456004,17454882,15571801,15489334,15365995,15302935,15274658,15098177,15064730,15043999,14974087,14961575,14767555,14645426,14585961,14520694,14500385,12974384,12920072,12799449,12732731,12574395,12537658,12522549,12477932,12376742,12171929,12019211,11877377,11807791,11709755,11600610,11586295,11524701,11498787,11474654,11333868,11274057,11245474,10954713,10871409,10783165,10537275,10521294,10508506,10480359,9774676,9491849,9455487,9428522,9401011,9354786,8838326,8782829,7604266,7604265,7604264,10029069,15753043,20800603,20850175,21056691,21107085,17353931,17348456,17312306,17259174,17205513,17108146,17095871,17081983,17039270,16964243,16902769,16885385,16807412,16774946,16771955,16740762,16638864,16636019,16565220,16418736,16408224,16344560,17438703,17417778,16237223,16203774,16116158,16106253,16051665,15952990,15855819,15808853,15805151,15613860,20632815,17148452,19170196,19582761,19584161,19625176,19685280,19692168,19707776,19723918,19787250,19861671,19876921,19898223,19900449,19924528,20028567,20028993,20029092,20064472,20085707,20149637,20160730,20206180,20453000,20496165,19714462,20591884,19851887 2293507,2293511,2293502,2306716,2293503,2293505,2306714,1625103,1625106,1600460,4143515 2956 NM_000179,NG_007111,AC006509,AY082894,CH471053,D89645,U73737,AK130683,AK293921,AK304735,AK308392,BC004246,BC071594,BC104665,D89646,DA857066,U28946,U54777,Y16676 NP_000170,AAL87401,EAX00208,EAX00209,BAA23673,BAA23674,AAB47425,BAG57302,BAG65496,AAH04246,AAI04666,BAA23675,AAC50461,AAB39212,CAC79990,P52701,Q1L838,Q3SWU9,Q6LAI4,ABM83824 Hs.445052 GTBP|HNPCC5|HSAP DNA mismatch repair protein Msh6|G/T mismatch-binding protein|GTMBP|hMSH6|mutS-alpha 160 kDa subunit|p160|sperm-associated protein protein-coding 731816 MSI1 musashi homolog 1 (Drosophila) This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq] 1582664,633285,1580863 19214660,18826648,18473332,18471519,9790759,19258308,17549630,16777095,16541075,16214366,16106215,14702039,12924647,12907678,12054577,11951628,11896183,11686236,11588182,11359897,11284014,20727204,18419830,16169070,19714342 1582664,633285 4440 NM_002442,AC003982,CH471054,AB012851,AB072590,AB072591,AB072592,AB073212,AK023262,HB886867,HC944276 NP_002433,AAB95636,EAW98185,EAW98186,EAW98187,BAA33962,BAB69767,BAB69768,BAB69769,BAB70469,BAG51178,O43347,AAI40381,AAI46464,CBF67590,CBU92464 Hs.158311 RNA-binding protein Musashi homolog 1|musashi-1 protein-coding 1352746 MSI2 musashi homolog 2 (Drosophila) This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 20639863,20936779,18815193,15489334,14702039,12649177,12477932,11588182,10737800,20823875,20379614,20595579,19913121,20628086 124540 HB886953,HC944362,NM_138962,NM_170721,AC005325,BX647939,AC015883,AC091181,CH471109,AI798817,AK093888,AK295060,AK297295,BC001526,BC017560,BE836557,AC007431 CBF67633,CBU92507,NP_620412,NP_733839,Q96DH6,ABM83243,ABM86445,EAW94506,EAW94507,EAW94508,EAW94509,EAW94510,EAW94511,EAW94512,BAC04244,BAG58109,BAG59763,AAH01526,AAH17560 Hs.658922 FLJ36569|MGC3245|MSI2H RNA-binding protein Musashi homolog 2|musashi-2 protein-coding 1349138 MSK10 antigen identified by monoclonal antibody AJ425 6593709 4448 1351323 MSK32 antigen identified by monoclonal antibody K66 3456173 4467 1349659 MSK34 antigen identified by monoclonal antibody CNT/6 4469 1348234 MSK38 antigen identified by monoclonal antibody O5 4473 1344255 MSK9 antigen identified by monoclonal antibody K15 6593709 4447 2307385 MSL1 male-specific lethal 1 homolog (Drosophila) 16543150,16227571,14702039,12698291,12477932,18029348,19650074 339287 AK297619,AL049450,BC039449,BC118997,BC122543,BX647188,CR749360,R23466,NM_001012241,AC068669,AK055378,AK124185,AK125654 BAG59995,CAH10734,AAI18998,AAI22544,CAH18213,Q68DK7,ACE87373,ACE86689,NP_001012241,BAG54229 Hs.532786 DKFZp686J17211|MGC141861|MSL-1|hMSL1 MSL1-like 1|male-specific lethal 1 homolog|male-specific lethal 1-like 1|male-specific lethal-1 homolog 1 protein-coding 1343514 MSL2 male-specific lethal 2 homolog (Drosophila) 16543150,16344560,16227571,14702039,12698291,12477932,10997877,9409833,20936779 55167 NM_001145417,AC092991,CH471052,AB046805,AK001408,AK091956,AK292557,AK302491,AL834289,AW237818,AW271295,BC032719,BC093764,NM_018133,BC093790,DA674784,DC409643 NP_060603,NP_001138889,EAW79119,EAW79120,BAB13411,BAA91673,BAF85246,BAG63776,CAD38963,AAH32719,AAH93790,Q9HCI7,AAH93764 Hs.18631 FLJ10546|FLJ54913|KIAA1585|MSL-2|MSL2L1|RNF184 MSL2-like 1|OTTHUMP00000216518|OTTHUMP00000216519|OTTHUMP00000216520|male-specific lethal 2 homolog|male-specific lethal 2-like 1|male-specific lethal 2-like 1 (Drosophila)|male-specific lethal-2 homolog 1|ring finger protein 184 protein-coding 1605696 MSL3 male-specific lethal 3 homolog (Drosophila) This gene encodes a nuclear protein and has similarity to drosophila male-specific lethal-3 gene. The drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus this encoded protein is thought to play a similar function in chromatin remodeling and transcriptional regulation. This gene has been found to undergo X inactivation. There are four alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq] 20943666,16344560,10395802,16227571,15489334,15302935,12477932,10908644 10943 NM_078629,NM_078628,NM_006800,NG_012564,AC004554,CH471074,AF117065,AK000793,AK025642,AK289780,AK294255,AK300814,AK304419,AL050178,AL713667,BC010925,BC017267,BC031210,CR605093,CR609985,BI091178,BI560203,CT002798,DA788603,DA961602,NM_001193270 EAW98800,NP_523353,NP_523352,NP_006791,EAW98799,EAW98802,AAD38499,BAF82469,BAH11713,BAG62470,BAG65249,CAB43308,CAD28473,AAH31210,Q8N5Y2,ABM82587,ABM85774,EAW98801,NP_001180199 Hs.655288 DKFZp586J1822|MSL3L1 MSL3-like 1|OTTHUMP00000022909|drosophila MSL3-like 1|male-specific lethal 3 homolog|male-specific lethal 3-like 1|male-specific lethal-3 homolog 1|male-specific lethal-3 protein-like 1 protein-coding 1344504 MSL3L2 male-specific lethal 3-like 2 (Drosophila) 151507 AK316372,BI831020,NR_024322,AC005538,CH471063,AA806373,AK301707,AW371403,CR623684,DB457661,DC394932 BAH14743,EAW71066,BAG63179,P0C860 Hs.355809 FLJ79271 MSL3-like 2|male-specific lethal-3 homolog 2|putative male-specific lethal-3 protein-like 2 pseudo 1349818 MSLN mesothelin An antibody that reacts with ovarian cancers and mesotheliomas was used to isolate a cell surface antigen named mesothelin. Although the function of mesothelin is unknown, it may play a role in cellular adhesion and is present on mesothelium, mesotheliomas, and ovarian cancers. This gene encodes a preproprotein that is cleaved into two products, megakaryocyte potentiating factor and mesothelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863,2326065,2326052,2326064,2326057,2326046,2326055,2326059,2326056,2326062,2326060 20573372,18546615,18394747,18347077,18316566,18281514,18281122,18245228,18167128,18154821,18064689,18042078,17803679,17598982,17276942,17067392,16857795,16677756,16638849,16602701,16467095,16428485,15897581,15623661,15616553,15489334,15217923,15140265,12477932,11157797,10683314,10500211,9178820,8288629,7665620,20815094,14676194,8552591,19293794,19075018,19020717,19010822,18978568,18691948,18670302,20593939,20596597,18788634,19747165,19858537,20131968,20349783,20453000 2326065,2326052,2326064,2326057,2326046,2326055,2326059,2326056,2326062,2326060 10232 NM_013404,NM_005823,AE006464,AL031258,CH471112,AF180951,AY743922,BC003512,BC009272,CR606099,CR616603,D49441,U40434,AL545401,CB266931,NM_001177355 NP_037536,NP_005814,AAK61253,CAC37289,EAW85719,EAW85720,EAW85721,AAF01409,AAV87530,AAH03512,AAH09272,BAA08419,AAC50348,Q13421,ABM82874,ABW03459,NP_001170826 Hs.408488 CAK1|MPF|SMR|SMRP CAK1 antigen|megakaryocyte potentiating factor|mesothelin|pre-pro-megakaryocyte-potentiating factor|soluble MPF mesothelin related protein protein-coding 1351302 MSLNL mesothelin-like 11157797 401827 NM_001025190,AE006464,AL031258,CH471112 Q96KJ4,NP_001020361,AAK61254,EAW85716,EAW85717,EAW85718 Hs.531530 C16orf37|MPFL MPF-like|megakarycyte potentiating factor|mesothelin-like protein|pre-pro-megakaryocyte-potentiating-factor-like protein-coding 69208 MSMB microseminoprotein, beta- The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1580863 7608123,7506990,6434350,3995056,3829888,2758596,2590204,2475560,2322265,2054385,2037304,1930232,1783399,7566962,19434657,19423541,19407392,19383797,19366831,19342788,19318432,19153072,19081476,19026612,18794092,18264097,18264096,18222915,17634540,17493883,17237810,17062675,16930619,15950934,15489334,15344909,12477932,12032598,11788998,10810306,10491085,9774712,8978767,8117114,7671139,20424135,21160077,19549807,19900942,19902474,19997100,20184897,20333697,20450899,20460480,20564319,20690139,20696662,20736317,20139978,20676098,20717903,20878950,20967219,21071540 4477 NM_002443,NM_138634,NG_011551,AJ133356,AL450342,CH471260,D28485,M34376,X57928,X57929,X57930,X57931,AK312108,BC005257,BT006816,CR457015,M15885,S67815,U22178,U78976 NP_002434,NP_619540,CAB39325,CAI14475,CAI14476,EAW53683,EAW53684,EAW53685,AAA59871,CAA41002,BAG35044,AAH05257,AAP35462,CAG33296,AAA36635,AAB29732,AAA83556,AAB37355,P08118,ABM83424,ABM86637 Hs.255462 HPC13|IGBF|MSP|MSPB|PN44|PRPS|PSP|PSP-94|PSP57|PSP94 beta-microseminoprotein|immunoglobulin binding factor|immunoglobulin-binding factor|microseminoprotein, beta|prostate secreted seminal plasma protein|prostate secretory protein of 94 amino acids|prostatic secretory protein 94|seminal plasma beta-inhibin protein-coding 2304156 MSMP microseminoprotein, prostate associated 17338636,12477932,11053263 692094 NM_001044264,AL133410,CH471071,BC071800,BC105274,DQ012170,BE439525 NP_001037729,EAW58344,AAY68208,Q1L6U9 Hs.571601 PC-3|PSMP PC3 prostate cancer cell-secreted microprotein|PC3-secreted microprotein|prostate-associated microseminoprotein|secreted microprotein PC-3 protein-coding 732547 MSN moesin Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq] 1580863 19432821,12082081,15819698,1924289,11310834,10847681,10751793,10480873,10436021,9918767,9856983,9616160,9516463,9472040,9430655,9330869,9314537,9298994,9013673,8892894,8537411,8259662,8248180,7884872,7628534,7588875,7579708,15818415,9213396,15659383,17353931,12387735,18029348,8188263,19255442,19152423,19129194,19124745,19066282,19047065,18941185,18295815,17594689,17515952,17237445,17170707,17110458,16916647,16908865,16889625,15772651,15489334,15252013,15178693,15166166,15149851,15146197,15096511,15039356,14760079,12850829,12787041,12734202,12665801,12594175,12477932,12385025,12360288,12226091,12115638,12111362,12070130,11784723,11717582,11716484,11706008,11441066,16130169,10806479,20376899,15020681,19555429,19723803,19830727,19890007,19965872,7844168,20429915,20855527,20546116,20679347 4478 NM_002444,NG_012516,CH471132,Z98946,AK297165,AK308486,AK309986,BC001112,BC011827,BC017293,CN386296,CR615471,CR625525,M69066 NP_002435,EAX05398,EAX05399,CAB46379,BAH12513,AAH01112,AAH11827,AAH17293,AAA36322,P26038,Q6PJT4,ABM83579,ABM86818 Hs.87752 membrane-organizing extension spike protein|moesin protein-coding 1353422 MSNL1 moesin-like 1 8188263 4479 NG_003032,AC109469,AC113370 MSNL1 pseudo 1343506 MSNL2 moesin-like 2 8188263 4480 1347158 MSR1 macrophage scavenger receptor 1 This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq] 2306128,2306129,1582314,2306126,2306127,2306130,1582669,1580863 9548586,9422792,8900177,8394868,8391600,1519666,12376530,2251254,8093617,19261092,18676680,18660489,18566991,18503826,18436282,18398045,17945237,17903305,17805225,17768178,17709607,17627168,17361499,17237231,16750665,16598737,16425212,16344560,16287155,16144911,16114055,15824169,15734964,15714208,15556945,15493872,15489334,15042613,14759258,14695991,14614006,12958598,12839931,12819208,12477932,12471593,12244320,11785981,20414830,10381284,19120472,19170196,19625176,19692168,19715475,19790077,19911804,19914718,20081102,20086112,20379614,20410100,17207965,19913121,20384632,20485444,20628086,20717903,21077973,18922854,20338659 2306128,2306129,1582314,2306126,2306127,2306130,1582669 4481 NM_138716,NM_138715,NM_002445,NG_012102,AC023396,CH471080,D13263,DQ144993,S70395,AF037351,AK293217,AK293409,BC063878,D13264,D13265,D90187,D90188,DA995755 NP_619730,NP_619729,NP_002436,EAW63830,EAW63831,EAW63832,EAW63833,EAW63834,AAZ38715,AAC09251,BAG56756,BAG56916,AAH63878,BAA14208,BAA14209,P21757,ADQ31955 Hs.147635 CD204|SCARA1|SR-A|phSR1|phSR2 OTTHUMP00000120049|macrophage acetylated LDL receptor I and II|macrophage scavenger receptor type III|macrophage scavenger receptor types I and II|scavenger receptor class A member 1|scavenger receptor class A, member 1 2293393,2293425,2293451,2301805,2314781,2314791 PRSTS281_H,PRSTS279_H,PRSTS204_H,PRSTS432_H,GLUCO109_H,BW512_H protein-coding 737220 MSRA methionine sulfoxide reductase A This protein is ubiquitous and highly conserved. It carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. Its proposed function is the repair of oxidative damage to proteins to restore biological activity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 14759519,12693988,12477932,12039877,8622914,20617525,20724581,20877624,10452521,19085252,18977241,18845237,18506707,17943184,17784942,17601350,16480945,16364291,16257642,16162094,15680232,15489334,15199188,19237503,19430479,19542914,19557161,19747232,19844733,20368336,20379614,20421936,20452100,19913121,20628086,20689807,20703240,20937881 4482 NM_012331,NM_001135670,NM_001135671,AC023385,AC034111,AC079200,AC112673,AY958432,CH471157,AF086925,AF183420,AI261219,AJ242973,AK293488,AK299948,AY690665,AY958429,AY958430,AY958431,BC047552,BC054033,CK819753,NM_001199729,HB491939 NP_036463,NP_001129142,NP_001129143,AAY17429,AAY17430,AAY17431,EAW65584,EAW65585,AAP97154,AAG09689,CAB59628,BAH11521,BAH13180,AAU11088,AAY17426,AAY17427,AAY17428,AAH54033,Q52TC4,Q549N4,Q66MI7,Q9UJ68,NP_001186658,CBA34903 Hs.490981 PMSR PMSR|cytosolic methionine-S-sulfoxide reductase|peptide Met(O) reductase|peptide met (O) reductase|peptide methionine sulfoxide reductase|peptide-methionine (S)-S-oxide reductase|protein-methionine-S-oxide reductase protein-coding 1345900 MSRB2 methionine sulfoxide reductase B2 1580863 12477932,14699060,10375640,19237503,18977241,18424444,17943184,17601350,16480945,14980072,14759519,12220640,10810093,8749308,16385451,19542914,20877624 22921 NM_012228,AL139281,CH471072,EF444983,AF122004,AF151889,BC018030,BC066305,BC117471,BC130380 NP_036360,CAI12665,EAW86133,EAW86134,EAW86135,EAW86136,ACA05998,ACA05999,AAD38899,AAD34126,AAH18030,AAI17472,AAI30381,Q9Y3D2,ABZ92470 Hs.461420 CBS-1|CBS1|CGI-131|MGC26104|MSRB|PILB methionine-R-sulfoxide reductase B2, mitochondrial|methionine-r-sulfoxide reductase B2 variant 1|methionine-r-sulfoxide reductase B2 variant 3|pilin-like transcription factor protein-coding 1351511 MSRB3 methionine sulfoxide reductase B3 737633 15252450,15249228,14702039,14699060,12975309,12477932,21150874,17207965,19542914,19788859,20195514 737633 253827 NM_001031679,NM_198080,AC025419,AC026124,AC079948,CH471054,AK094185,AK122602,AK293084,AK299065,AK316365,AL833622,AY358229,BC040053,BX640871,BX648776,CR600087,DQ786269,BX500552,DC357690,NG_023441,NM_001193460,NM_001193461 NP_001026849,NP_932346,EAW97151,BAF85773,BAG61131,BAH14736,AAQ88596,AAH40053,CAE45929,CAI46018,Q6MZU8,Q8IXL7,ADQ33079,NP_001180389,NP_001180390 Hs.339024 DKFZp686C1178|FLJ36866 methionine-R-sulfoxide reductase B3|methionine-R-sulfoxide reductase B3, mitochondrial protein-coding 1343018 MSS Marinesco-Sjogren syndrome 2791656 4483 1350588 MSSE multiple self-healing squamous epithelioma 9439661 4484 736655 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) 1580863 19221179,19212654,19079170,18700007,18587394,18480548,18438406,17554300,17554261,17456594,16335952,16170349,15764806,14597639,12919677,12477932,12177064,11856768,11274154,10728827,10068459,9373149,9045873,8889548,8702870,8621550,8393443,8125298,2902784,1827141,1655021,20171103,19950692,21151127,17347649,19456860,19657358,19836237,19861958,19915572,19944697,19956688,20014019,20024904,20307617,20513427,20228799,19760754,21072187,20921231,21102463 4485 AC099668,CH471055,U28054,U37055,AK222893,AK294324,AK296192,AK298396,AK298452,AK309567,BC044862,BC048330,BM672747,DC315638,L11924,M74178,NM_020998,NG_016454 NP_066278,EAW64999,EAW65000,EAW65001,EAW65002,EAW65003,AAC63092,AAC50471,BAD96613,BAH11736,BAH12279,BAH12774,BAH12793,AAH44862,AAH48330,AAA59872,AAA50165,P26927,Q13208,Q49A61,Q53GN8 Hs.349110,Hs.512587 D3F15S2|DNF15S2|HGFL|MSP|NF15S2 hepatocyte growth factor-like protein|hepatocyte growth factor-like protein homolog|macrophage stimulatory protein|macrophage-stimulating protein protein-coding 1605605 MST150 MSTP150 16189514,15489334,12477932,11288140 85027 NM_032947,AC010441,CH471062,AF313413,AK027847,AK125286,BC009719,BC101838,BC101840,BC106040,BG911744,CR592752,CR598472,CR599530,CR606703,CR615940,CR618199,CR620757,CR620995,CR621053,CR621979 NP_116565,EAW61705,AAG53959,BAC86114,AAH09719,AAI01839,AAI01841,AAI06041,Q7Z4C3,Q9BZL3 Hs.29444 MGC117221|MGC126887|MGC126889|MST150|NID67 NGF-induced differentiation clone 67 protein|putative small membrane protein NID67 protein-coding 1315099 MST1R macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1580863 9045873,10871856,7939629,19519771,19367581,19307182,19242504,19224914,19040718,18950514,18836480,18620091,18606710,18593918,18593464,18310076,18221954,18209063,18204077,18200509,18165235,18073207,18019691,17616662,17611409,17588532,17456594,17395888,17311308,16166746,16166096,15929040,15788670,15764806,15557181,15378025,15342556,15184888,20689759,20800603,20358644,14982882,14597639,12919677,12915129,12802274,12766581,12676986,12527888,12419829,12214279,8918464,8889548,8816464,8386824,8247543,8062829,7488076,15001985,16103119,19657358,19838218,19956854,20026054,20103639,20428780,16740632,20596668,19913121,20434834,20498137,20628086,20664977 4486 X70040,NM_002447,AC105935,CH471055,AK303234,BP288515,CA503122,EU826582,EU826583,EU826584,EU826585 ACF47621,CAA49634,Q04912,NP_002438,EAW65036,BAG64320,ACF47618,ACF47619,ACF47620 Hs.517973 CD136|CDw136|PTK8|RON MSP receptor|OTTHUMP00000210454|OTTHUMP00000223157|PTK8 protein tyrosine kinase 8|c-met-related tyrosine kinase|macrophage-stimulating protein receptor|p185-Ron|soluble RON variant 1|soluble RON variant 2|soluble RON variant 3|soluble RON variant 4 protein-coding 1604356 MST4 serine/threonine protein kinase MST4 The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 11641781,11741893,19386264,17360971,16344560,15772651,15489334,15037601,14702039,12810671,12477932,11316611,11306563,1164178,18782753,15688006 51765 NM_001042453,NM_001042452,AL109749,CH471107,CQ783144,AB040057,AF231012,AF344882,AF344883,AK000556,AK027589,AK074837,AK075107,AK075150,AK303583,AK314356,AK316137,BC013856,NM_016542,BC017213,BC070056,BC098315,BC099737,BC099843,BC103503,BT020099,DA760264 ACT64455,NP_057626,NP_001035918,NP_001035917,CAI42079,EAX11786,EAX11787,CAF86351,BAA92785,AAK38484,AAK29620,AAK29621,BAA91251,BAB55215,BAC11236,BAC11406,BAC11435,BAG64601,BAG36989,BAH14508,AAH98315,AAH99843,AAI03504,AAV38902,Q499L9,Q8NBY1,Q8NC04,Q96SR7,Q9BXC3,Q9NWX4,Q9P289,ACE87792 Hs.444247 MASK MST-4|Mst3 and SOK1-related kinase|OTTHUMP00000215132|OTTHUMP00000215134|STE20-like kinase MST4|mammalian Ste20-like protein kinase 4|mammalian sterile 20-like 4|serine/threonine protein kinase MASK|serine/threonine-protein kinase MASK|serine/threonine-protein kinase MST4 protein-coding 736334 MSTN myostatin The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. [provided by RefSeq] 2303558,2303596,2303594,2303552,2303554,2303556,2303544,2303598,2303545,1601298,1580863,704404 19147968,19591015,19751112,19828686,19918890,20026378,20044471,20237496,20536908,20186835,9843994,14517293,19533653,19453261,19422651,19346981,19299575,19277943,19237423,19232494,19136503,18835929,18801770,18596030,18567511,18563849,18535106,18335407,18284920,18240972,18203713,18175804,17823296,17711997,17703271,17673556,17609255,17186467,17003236,16849634,16464946,16437538,15567067,15489334,15215484,15181048,15083369,14623262,12595574,12477932,12209887,12194980,12175483,12165013,12060865,11555072,11519824,11459935,10844590,10610713,10508689,10362012,9356471,9288100,9139826,7558031,20161792,20734064 2303558,2303596,2303594,2303552,2303554,2303556,2303544,2303598,2303545,1601298 2660 HC889206,DQ927144,NG_009800,AC073120,CH471058,DQ927048,DQ927050,DQ927053,DQ927055,DQ927057,DQ927058,DQ927059,DQ927061,DQ927064,DQ927065,DQ927068,DQ927069,DQ927070,DQ927072,NM_005259,DQ927080,DQ927081,DQ927083,DQ927087,DQ927088,DQ927090,DQ927091,DQ927092,DQ927093,DQ927094,DQ927097,DQ927100,DQ927101,DQ927102,DQ927104,DQ927105,DQ927107,DQ927110,DQ927111,DQ927113,DQ927117,DQ927120,DQ927122,DQ927123,DQ927124,DQ927125,DQ927126,DQ927127,DQ927128,DQ927130,DQ927131,DQ927133,DQ927134,DQ927135,DQ927136,DQ927137,DQ927138,DQ927139,DQ927140,DQ927141,DQ927143,DQ927121,DQ927145,DQ927146,DQ927147,DQ927148,DQ927149,DQ927150,DQ927151,DQ927152,DQ927153,DQ927154,DQ927155,DQ927156,DQ927157,DQ927158,DQ927159,DQ927160,DQ927161,DQ927162,DQ927163,DQ927164,DQ927165,DQ927166,DQ927167,DQ927168,DQ927169,DQ927170,DQ927171,DQ927172,DQ927173,DQ927174,DQ927175,DQ927176,DQ927179,DQ927180,DQ927181,DQ927183,DQ927184,DQ927186,DQ927187,DQ927188,DQ927189,DQ927190,DQ927191,AF019627,AF104922,AK291524,BC074757,BX093210,DQ927177 CBM42951,ABI48443,NP_005250,AAY24188,EAX10880,ABI48371,ABI48373,ABI48376,ABI48378,ABI48380,ABI48381,ABI48382,ABI48384,ABI48387,ABI48388,ABI48391,ABI48392,ABI48393,ABI48395,ABI48403,ABI48404,ABI48406,ABI48410,ABI48411,ABI48413,ABI48414,ABI48415,ABI48416,ABI48417,ABI48420,ABI48423,ABI48424,ABI48425,ABI48427,ABI48428,ABI48430,ABI48433,ABI48434,ABI48436,ABI48440,ABI48444,ABI48445,ABI48446,ABI48447,ABI48448,ABI48449,ABI48450,ABI48451,ABI48453,ABI48454,ABI48456,ABI48457,ABI48458,ABI48459,ABI48460,ABI48461,ABI48462,ABI48463,ABI48464,ABI48466,ABI48467,ABI48468,ABI48469,ABI48470,ABI48471,ABI48472,ABI48473,ABI48474,ABI48475,ABI48476,ABI48477,ABI48478,ABI48479,ABI48480,ABI48481,ABI48482,ABI48483,ABI48484,ABI48485,ABI48486,ABI48487,ABI48488,ABI48489,ABI48490,ABI48491,ABI48492,ABI48493,ABI48494,ABI48495,ABI48496,ABI48497,ABI48498,ABI48499,ABI48500,ABI48502,ABI48503,ABI48504,ABI48506,ABI48507,ABI48509,ABI48510,ABI48511,ABI48512,ABI48513,ABI48514,AAB86694,AAC96327,BAF84213,AAH74757,O14793,Q53S46,ABZ92482 Hs.41565 GDF8 GDF-8|growth differentiation factor 8|growth/differentiation factor 8 1643395,1643406 BW326_H,BMD6_H protein-coding 1602702 MSTO1 misato homolog 1 (Drosophila) 17349998,11256614,16545939,16381901,15489336,14702039,12477932,11076863,9373149,9144213,8125298 55154 NM_018116,AL353807,CH471121,AF111708,AF272833,AK001366,AK056128,AK092950,AK222863,AK290610,AK295146,AK297140,AK309573,AY334564,BC002535,BC070067,BI911005,BX537684,CR623007,CR623182,CR749791,CR936872 NP_060586,CAI13215,CAI13216,EAW53038,EAW53039,EAW53040,EAW53041,EAW53042,AAM12424,AAF81794,BAA91651,BAD96583,BAF83299,BAG58165,BAG59641,AAP94730,AAH02535,CAD97810,CAH18652,Q9BUK6,CAI59784,CAL37881,ACE87553,ACE86865 Hs.656547 DKFZp686B1757|DKFZp686I01261|FLJ10504|LST005|MST|RP11-29H23.3 protein misato homolog 1 protein-coding 1625804 MSTO2P misato homolog 2 pseudogene 16710414,16545939,12477932 100129405 NR_024117,AL162734,AK293928,BC099909 BAG57308 Hs.720829 MSTO2 pseudo 1348338 MSTP1 macrophage stimulating, pseudogene 1 10585770 11210 NG_001241,AF083410 MSPL-1|MSPL1 pseudo 1350087 MSTP2 macrophage stimulating, pseudogene 2 10585770 11209 AK298457,AF083412,NR_027504,AF083410,AF083411,AL137798,AK293358,AK311393,AW629449,CR589990,DC362930 BAG60670,BAG56874 Hs.349110 FLJ18435|MSPL-1|MSPL-2|MSPL-3|MSPL1|MSPL2|MSPL3|MSTP1|MSTP2|MSTP3 pseudo 1353718 MSTP3 macrophage stimulating, pseudogene 3 10585770 11208 NG_001239,AF083412 MSPL-3|MSPL3 pseudo 1343444 MSTP4 macrophage stimulating, pseudogene 4 10585770 11207 NG_001238,AF083413 MSPL-4|MSPL4 pseudo 1343322 MSTP5 macrophage stimulating, pseudogene 5 10585770 11206 NG_001237,AF083414 MSPL-5|MSPL5 pseudo 1345770 MSTP6 macrophage stimulating, pseudogene 6 10585770 11205 NG_001236,AF083415 MSPL-6|MSPL6 pseudo 1348559 MSTP7 macrophage stimulating, pseudogene 7 10585770 11204 NG_001235,AF083416,AL021920 MSPL-7|MSPL7 pseudo 1351890 MSTP8 macrophage stimulating, pseudogene 8 10585770 11203 NG_001234,AF083417 MSPL-8|MSPL8 pseudo 1345100 MSTP9 macrophage stimulating, pseudogene 9 1580863 10728827,10585770 11223 AF083416,AL021920,AF116647,AY192149,U28055,NR_002729 AAP20103,AAC35412,Q2TV78 Hs.655432 D1F15S1A|MSPL-7|MSPL7|MSTP7|MSTP9 pseudo 731562 MSX1 msh homeobox 1 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq] 1600484,1580863 19475667,19453261,18932005,18705505,18698632,18374898,18177186,18070437,17693062,17559452,17557248,17326252,16932841,16868654,16678795,16651263,16600910,16344560,16327884,15705871,15489334,15381719,15264286,15029481,12974677,12807959,12733956,12652527,12651933,12490878,12477932,12097313,11754469,11390985,11384957,11369996,20060342,11115394,10862767,10742093,10529415,10215616,9697309,9369446,9111364,8700832,8696335,2565810,1973146,1969845,1685479,1284527,11332647,20620318,16002402,18379900,19346736,19389651,19776500,19816326,19922584,20004191,20087401,20450679,20544801,20572854,20634891,20635363,20638926,20672350,20506112,20211142,20538960 1600484 4487 NM_002448,NG_008121,AC092437,AF426432,CH471131,M76731,M76732,AK290636,AU117561,BC021285,BC067353,BU624994,DB356637,M97676 NP_002439,AAL17870,EAW82420,AAA58665,BAF83325,AAH21285,AAH67353,AAA52683,P28360 Hs.424414 HOX7|HYD1|STHAG1 homeo box, msh-like 1|homeobox 7|homeobox protein Hox-7|homeobox protein MSX-1|msh homeo box 1|msh homeobox 1-like protein|msh homeobox homolog 1 protein-coding 735997 MSX2 msh homeobox 2 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq] 1600491,1600492,1580863 20620318,12145306,9073066,8968743,18029348,19453261,19407244,19240061,18786927,18349132,18299954,18187185,18056036,17693062,16642368,16540516,16467978,16425399,16327884,15489334,15060165,14571277,12925529,12750290,12477932,12407713,12145310,12145307,11959851,11683913,11084035,10831122,10767351,10742103,10451362,9522127,9373945,9265625,9256341,9111364,8786091,8668339,8106171,8101453,7897272,7726844,7687426,11763998,14679154,19147956,19590514,19835636,20004646,20572854,20634891,20672350,20506112,20211142,20538960,20107842 1600491,1600492 4488 NM_002449,NG_008124,AC117531,CH471062,L22498,L22499,S75308,AL552909,BC015509,BT009814,CR592938,CR606816,CR622800,D14970,D26145,D31771,D89377,S75361,W38629,X69295,CS406127 NP_002440,EAW61381,EAW61382,AAB42178,AAD14169,AAH15509,AAP88816,BAA03611,BAA06549,BAA13949,AAB33867,CAA49156,P35548,ABM82526,ABM85721,CAL40519 Hs.89404 CRS2|FPP|HOX8|MSH|PFM|PFM1 homeobox protein Hox-8|homeobox protein MSX-2|msh homeo box 2|msh homeo box homolog 2 (drosophila)|msh homeobox homolog 2 protein-coding 1602108 MSX2P1 msh homeobox 2 pseudogene 1 7518789 55545 NR_002307,AC005962,X74862 CAA52855,Q14561 Hs.381329 HPX5|HSHPX5|MSX2P pseudo 1350040 MT-ATP6 mitochondrially encoded ATP synthase 6 15931342,17300808,14748908,18055910,17568559,17342424,14697245,16611712,11925565,17121862,15965056,15228605,16217706,12133827,12915481,16751614,14499622,16060290,11130070,18461509,18409190,19077432,19066432,19050702,19026397,18481423,17619138,16604388 4508 AF347015 NP_536848,AAK17888 MTATP6 protein-coding 1344922 MT-ATP8 mitochondrially encoded ATP synthase 8 2302294 12110673,19758471,4517936,19066432,17619138,11607774,20936779 2302294 4509 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ATPase8|MTATP8 ATP synthase F0 subunit 8 protein-coding 1605433 MT-CO2 mitochondrially encoded cytochrome c oxidase II 2300410,2302298 19295170,19133256,18409190,18509181,18224252,18294142,18261751,18314621,15931342,12732844,19066432,19050702,17619138,15316498,15308583,11849212,17916073,17616393,17727817,17578348,15965049,14607829,12031622,16288875,12115729,17353931,20034753,20936779,10194136,15282306,16826196,19336478,19758471,19771519,19840943,2550900,20471030 2300410,2302298 4513 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40,ACM76853,ACM76866,ACM76879,ACM76892,ACM76905,ACM76918,ACM76931,ACM76944,ACM76957,ACM76970,ACM76983,ACM76996,ACM77009,ACM77022,ACM77035,ACM77048,ACM77061,ACM77074,ACM77087,ACM77100,ACM77113,ACM77126,ACM77139,ACM77152,ACM77165,ACM77178,ACM77191,ACM77204,ACM77217,ACM77230,ACM77256,ACM77269,ACM77295,ACM77308,ACM77321,ACM77334,ACM77347,ACM77386,ACM77399,ACM77438,ACM77451,ACM77464,ACM77477,ACM77490,ACM77503,ACM77516,ACM77542,ACM77555,ACM77581,ACM77594,ACM77607,ACM77620,ACM77633,ACM77646,ACM77659,ACM77672,ACM77685,ACM77698,ACM77711,ACN49212,ACN49224,ACN49237,ACN49250,ACN49263,ACN49276,ACN49476,ACN49489,ACN49502,ACN49515,ACN49528,ACN49541,ACN49554,ACN49567,ACN49580,ACN49593,ACN49606,ACN49619,ACN49632,ACN49645,ACN49658,ACN49671,ACN49684,ACN49697,ACN49710,ACN49723,ACN49736,ACN49749,ACN49762,ACN49788,ACN49801,ACN49814,ACN49827,ACN49840,ACN49853,ACN49866,ACN49879,ACN49892,ACN49905,ACN49917,ACN49930,ACN49943,ACN49956,ACQ73100,ACQ73113,ACQ73126,ACQ73139,ACS48561,ACS48587,ACS48600,ACS48613,ACS48626,ACS48652,ACS48665,ACS48691,ACS48704,ACS48730,ACS48743,ACS48756,ACS48769,ACS48782,ACS48795,ACS48808,ACS48834,ACS48847,ACS48860,ACS48873,ACS48899,ACS48912,ACS48925,ACS48938,ACS48951,ACS48964,ACS48977,ACS48990,ACS49016,ACS49042,ACS49068,ACT15500,ACT15513,ACT15526,ACT15539,ACT15552,ACT15565,ACT15578,ACT15604,ACT16032,ACT16045,ACT16058,ACT36247,ACT36260,ACT46872,ACT46897,ACT53097,ACT89050,ACT89063,ACT89076,ACU00394,ACU00407,ACU52560,ACU52573,ACV32510,ACV69873,ACV69886,ACV69899,ACV90314,ACV90327,ACV90340,ACV90353,ACV90366,ACV90379,ACV90392,ACV92174,ACV92200,ACV92213,ACV92226,ACV92239,ACV92265,ACV92278,ACV92291,ACV92330,ACV92343,ACV92356,ACV92369,ACV92382,ACV92408,ACV92421,ACV92434,ACV92460,ACV92473,ACV92486,ACV92499,ACV92538,ACV92564,ACX84754,ACX84780,ACX84793,ACX84806,ACX84819,ACX93110,ACX93123,ACX93136,ACX93149,ACX93162,ACX93175,ACX93188,ACX93201,ACY78230,ACY78243,ACZ04113,ACZ04126,ACZ37159,ACZ37172,ACZ37185,ACZ44322,ACZ44335,ACZ44348,ACZ44361,ACZ44387,ACZ55799,ACZ57399,ACZ57412,ACZ82988,ACZ83001,ACZ83027,ADA55784,ADA55797,ADA55810,ADA55823,ADA55836,ADA55849,ADA55862,ADA63641,ADA63654,ADB07186,ADB07199,ADB07212,ADB07225,ADB07238,ADB07251,ADB07264,ADB07290,ADB07303,ADB07316,ADB07329,ADB07342,ADB07355,ADB43206,ADB43219,ADB43232,ADB43245,ADB78137,ADB78150,ADB78163,ADB78176,ADB78189,ADB78202,ADB78215,ADB78241,ADB78254,ADB80911,ADB80924,ADB80937,ADB80950,ADB80963,ADB80976,ADB80989,ADC52437,ADC52450,ADC52463,ADC52476,ADC66769,ADC66782,ADC66795,ADC66808,ADC66821,ADC66834,ADC79071,ADC79084,ADC79097,ADC79110,ADC79195,ADC79208,ADC79221,ADC79234,ADC79247,ADC79260,ADC79273,ADC79286,ADC79299,ADC79312,ADC90235,ADC90248,ADC90261,ADC90287,ADC90300,ADC90313,ADD13896,ADD13909,ADD13922,ADD13935,ADD13948,ADD13961,ADD20770,ADD20783,ADD20796,ADD20822,ADD20835,ADD20861,ADD31886,ADD31899,ADD31912,ADD31925,ADD31938,ADD31951,ADD31964,ADD31977,ADD31990,ADD32003,ADD71993,ADD72006,ADD72019,ADD72032,ADD72045,ADD72058,ADE05387,ADE05400,ADE05413,ADE05426,ADE05439,ADE05452,ADE05465,ADE05478,ADE33731,ADE33744,ADE33757,ADE33770,ADE33783,ADE33796,ADE33809,ADE33822,ADE33835,ADE33848,ADE33861,ADE33874,ADE33887,ADE33900,ADE42771,ADE42784,ADE42797,ADE42810,ADE42823,ADE42836,ADE42849,ADE67067,ADE67080,ADE67093,ADE67106,ADE67119,ADE67132,ADF42136,ADF42149,ADF42162,ADF42175,ADF42188,ADF42201,ADF42214,ADF56690,ADF56703,ADF56716,ADF56729,ADF56742,ADF56755,CBI69620,Q7GXZ8,ACH71102,ACH71115,ACH71128,ACH71141,ACH71154,ACH71167,ACH71180,ACH71193,ACH71206,ACH71219,ACH71232,ACH71245,ACI95793,ACI95806,ACI95819,ACI95832,ACI95845,ACI95871,ACK55199,ACK55212,ACK55225,ACK55238,ACK55251,ACK55264,ACK55277,ACK55290,ACK55303,ACK55316,ACK55329,ACK55342,ACK55355,ACK55368,ACK55381,ACK55394,ACK55407,ACK55420,ACK55433,ACK55446,ACK55459,ACK55472,ACK55485,ACK55498,ACK55511,ACK55524,ACK55537,ACK55550,ACK55563,ACK55576,ACK55589,ACK55602,ACK55615,ACK55628,ACK55667,ACK55680,ACK55693,ACK55706,ACK55719,ACK55732,ACK55745,ACK55758,ACK55771,ACK55784,ACK55797,ACK55810,ACK55823,ACK55836,ACK55849,ACK55862,ACK55875,ACK55888,ACK76869,ACK76895,ACK76947,ACK77051,ACK77064,ACK77077,ACK77090,ACK77103,ACM69391,ACM69404,ACM69417,ACM69430,ACM69443,ACM69456,ACM69469,ACM69495,ACM69508,ACM69521,ACM69534,ACM69547,ACM69560,ACM69573,ACM69586,ACM69599,ACM69612,ACM69625,ACM69638,ACM69651,ACM69664,ACM69677,ACM69690,ACM69703,ACM69716,ACM69729,ACM69742,ACM69755,ACM69768,ACM69781,ACM69794,ACM69807,ACM69820,ACM69833,ACM69846,ACM69859,ACM69872,ACM69885,ACM69898,ACM69911,ACM69924,ACM69937,ACM69963,ACM69976,ACM69989,ACM70002,ACM70015,ACM70067,ACM70106,ACM70119,ACM70171,ACM70184,ACM70197,ACM70223,ACM70236,ACM70249,ACM70262,ACM70275,ACM70288,ACM70301,ACM70314,ACM70327,ACM70340,ACM70366,ACM70379,ACM70392,ACM70405,ACM70418,ACM70431,ACM70444,ACM70457,ACM70470,ACM70483,ACM70496,ACM70509,ACM70522,ACM70535,ACM70548,ACM70561,ACM70574,ACM70587,ACM70600,ACM70613,ACM70626,ACM70639,ACM70652,ACM70665,ACM70678,ACM70691,ACM70704,ACM70717,ACM70730,ACM70743,ACM70756,ACM70782,ACM70795,ACM70808,ACM70821,ACM70834,ACM70847,ACM70860,ACM70873,ACM70886,ACM70899,ACM70912,ACM70925,ACM70951,ACM70964,ACM70990,ACM71003,ACM71016,ACM71029 COII|MTCO2 cytochrome c oxidase subunit II protein-coding 1350980 MT-CO3 mitochondrially encoded cytochrome c oxidase III 11130070,18587274,19050702,16604388,12059041,12915481,16288875 4514 AF347015 NP_536849,AAK17889 MTCO3 protein-coding 1343025 MT-COI mitochondrially encoded cytochrome c oxidase I 2302296,2302301 12762840,16002321,18718066,19570036,19758471,18484665,20382059,20936779,17559347,16740593,17341490,16671096,12140182,14759509,15036329,14607829,19267350,18705313,18204294,18251004,17357124,15931342,19147801,19050702,15308583,11849212,11345519 2302296,2302301 4512 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COI|MTCO1 cytochrome c oxidase subunit I protein-coding 1344890 MT-CYB mitochondrially encoded cytochrome b 2298953,2298962,2298976,2298954,2298955,2298956,2298979,2298978,2298967,2298972,2298983,1578536 11130070,18796602,18709563,19050702,18481423,17015183,12391595,12686403,14735157,12031626,16008558 2298953,2298962,2298976,2298954,2298955,2298956,2298979,2298978,2298967,2298972,2298983,1578536 4519 AF347015 NP_536855,AAK17895 MTCYB protein-coding 1349540 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 2311592,2300401,2300410,2300400,2311583,2311597 11418099,12611891,12762840,17209039,19487983,19527690,19555656,19758471,20137661,20176558,3921850,20197120,20211276,20643099,19324017,19276764,19199265,18590963,18513491,18502698,18504678,18239645,18194667,17684475,18709563,16784756,18082471,14580860,19199242,19066432,19050702,18701018,18679013,17717444,17619138,17429906,17200023,17045122,17035175,16884381,16759180,16604388,16414144,16060290,15975594,15952130,15860916,15533721,15265369,15108120,14680844,14671420,12670626,12618962,12133550,12100083,15505787,15466014,12111463,17434142,17562939,14759509,15038995,16137960,17454741,12756609,16828917,6402020,15110773,15696471 2311592,2300401,2300410,2300400,2311583,2311597 4535 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06,AAP48244,AAR93445,BAG14991,BAE11915,AAP48348,CAJ98167,ACI31477,ACI31464,BAG15004,ABY53214,ACB20599,AAP89088,AAP90817,BAE11928,AAP48335,AAZ00618,AAP48322,AAP48309,BAE11941,BAE11954,AAP48296,BAE11967,ABL60100,AAR93094,ACD93479,BAE12253,ABN45803,AAP48075,ACR09009,BAE12279,BAE12292,BAE12305,BAE12318,ABL60698,AAP48062,BAE12331,BAE12344,ACB20625,AAZ00709,AAR93471,BAE12357,ABL60113,BAE10808,ABG38197,BAE10821,BAE10379,ABF49393,BAE10392,BAE10405,AAO88293,ABL60555,AAO88306,AAO88319,AAP90947,AAZ00943,BAG15381,BAE10431,AAO88345,AAO88358,BAE10444,AAO88371,BAE10457,BAE10470,BAE10483,AAO88410,BAE10496,AAO88423,AAO88436,BAE10509,BAE10522,BAG15199,BAG15212,AAQ19395,ABL60568,BAE09261,ABC70369,BAE09274,AAQ19408,BAE09287,AAZ00865,ACJ60478,AAR93510,BAE09313,BAG15225,BAE09326,BAE09339,BAE09352,BAE09365,BAE09378,BAE09404,BAE09430,BAE09443,AAZ00878,BAE09456,BAE09469,BAE09053,AAP89582,BAE09066,AAZ00839,ABM68714,BAG15160,BAE09079,BAE09105,AAO88488,BAE09677,BAE09690,BAE09703,BAE09716,BAE09729,BAE09742,BAE09755,BAE09768,BAE09781,ACJ60361,AAQ19460,BAE09794,BAE09807,BAE09820,BAE09846,BAE09859,AAZ00904,ABF48977,BAG15303,BAE09495,AAQ19434,ACJ60439,BAE09521,BAG15238,BAE09534,BAH16113,BAG15251,AAO67215,ABB91282,AAZ00891,BAE09547,CAJ98219,ACA00456,ACJ60400,AAR93523,BAG15264,ABY90280,ACA00727,BAE09573,ABL60061,ABU67937,BAH10963,ABP99166,AAZ03205,ACG50577,AAZ02126,ACI04277,ABR94060,ABB78637,ACG50590,ACG50603,ACJ71174,ABR96604,ABR96617,AAX15654,ABB78221,ABL61580,ABO39543,ABR93075,AAP89322,ABU64666,ABO09937,AAR95447,ABS58149,AAW58489,ABS58019,AP_000639,BAH15892,ACB48755,ACR16688,AAW58437,ABU64537,ACA22501,ABL60464,ABS58045,AAR95460,ABS58058,ABU64563,ABR98135,CAJ97829,ABS58071,AAW58450,ABS58084,ABB91087,ACB48703,ABG29220,ABU64407,ABK28817,ABR98226,ABS57604,ABG29207,ABU64420,CAJ97465,ACA22579,ABU64433,ABS57617,AAP90596,AAW58164,ABS57630,AAR95525,AAW58177,ABU64446,ABB91113,ABS57707,ABG29194,AAW58190,AAW58203,AAR95512,ABG29181,ABU64238,ACO49674,ABU64251,ABR98265,ABU64264,AAO67150,ABU64277,ABR98252,ABF14607,ABU64290,ABU64303,ABG29233,AAZ01619,BAE08390,BAE08403,BAE10875,AAU02241,BAE10888,AAZ00566,BAE10901,BAE10914,BAE10927,BAE07961,BAE07974,BAE07987,AAU02280,AAR93406,BAE08000,ACI28690,AAT37879,BAE08026,BAE08039,ACA00805,BAE08052,BAE08065,ACR09100,BAE08091,BAE08104,BAE08117,BAE08130,ACB20547,AAU02267,BAE08143,BAE08156,BAE08169,BAE08182,BAE08195,BAE08208,BAH16438,ABG91361,ACD43893,ABR58250,ACA00881,ABY59856,AAZ00306,BAH16464,ACA00894,AAU02969,BAH16477,ABL60659,ACD43906,CAJ98076,AAZ02373,AAR93172,ABR58263,AAO66995,AAU02956,ACD43919,AAP89686,BAH16490,AAR93185,BAH16503,ABX59389,AAZ02516,BAE08377,BAE13306,AAR93588,BAE13319,AAN77924,BAE13332,BAE13345,BAE13358,BAE13371,AAZ00969,ACA00417,BAE13384,AAR93601,BAE13410,BAE13423,BAE13436,ABL60542,ABD61199,BAE15009,ABQ45188,ABF49315,BAE15022,BAG15758,BAE15035,BAE15048,ABD61212,ACM79560,BAE15061,ABL60516,BAE15074,BAE15087,BAE15100,BAE15113,BAG15784,BAH15827,ABR57757,BAE15139,ACA22826,BAE15152,ABB45403,ABC60627,BAG15719,BAE14918,AAP90375,ACJ59958,ABL60711,ABU40213,ABD61121,BAG15732,BAE14931,ABU40226,BAE14944,ACJ59945,ACO07269,ABD61134,BAE14957,CAJ97894,AAX45436,BAE14970,ABD61173,ACJ59932,ABC60614,ACA22085,ACG50629,ABL61593,ABU67924,AAX15641,AAR94628,ABL61606,ACJ71161,ABF49107,ACG50525,ACA22072,ABU66530,AAU13719,ABR94047,ABR93101,ABR96929,ABF49536,ABF49042,AAZ02841,AAR94602,ACJ47650,AAZ03361,ABR95267,ABO69253,AAZ02854,AAZ03348,AAX53802,AAZ02152,ACJ47663,ACI95194,ABL61697,AAX53815,ABB98192,ABR96890,ABW89662,ABM92864,ABL60802,ABR95293,AAX53828,ABR94151,ABF48899,ABR94177,ABW89623,ABR96968,ABO36796,ABL61762,BAG39435,ABR95215,ABU67795,ACJ47637,ACR09308,AAP89348,ABR97032,ABL61775,ABL73244,ABB99089,ABU66608,AAU13199,ABV02538,ACO92274,AAR92730,ABR97045,ACA22137,ABL60269,ABR95254,ACK55996,ACJ59763,ABU47210,AAK17558,AAL54566,ACK56009,ABC60835,ABC60822,ABS00071,AAP90765,AAR95382,ABI32705,AAP90973,ABU65039,ABF49302,ABU65052,ACA00740,AAZ01671,ACR08931,ACA22423,ACB48833,ABI32692,ABS58331,ABU65065,ABI32679,AAR95369,ABO39968,ACR09178,ABI32666,ABC96618,ABU65091,ABI32653,ABU64975,ABL60451,ABI32744,ACB48807,ABU64988,ABI32731,ABS58292,ACA22436,AAR95395,ABS58305,ABR98070,ACB48820,ABU65013,ABI32718,ABO39994,ABS58318,ABU65026,AAZ01684,ABC96566,ABS58383,ABU65156,ACB48885,ABC96553,ABC96540,ABI32627,ABS58396,ABC96527,ABS58409,ACB48898,AAK17545,ABU64316,ABB79482,ABR98239,ABU64329,ABU64342,ABU64355,ABU64368,ABL60477,ABL85988,AAW58151,ABU64394,AAW58268,AAR95486,ABS57798,ABS57811,ABF14594,ABS57824,ABI32994,ABR98174,ABS57837,ABS57850,CAJ98362,AAW58281,ABS57863,ABS57876,ACA22527,ABS57889,AAW58294,ABL60750,AAW58307,ACB48729,ABI32981,ABR98161,AAW58216,BAH15866,ABS57720,ABU64459,AAW58229,ABR98213,AAW58242,ACA22553,AAW58255,AAR95499,ABR98200,ABS57733,ABK28791,ABR98187,ABI33020,ABS57746,810024F,ABS57759,ABS57772,ACN29648,AAZ01580,ACA22540,ABI33007,ABS57785,ACH41566,ACB73178,ACH41553,AAU02423,ABB79703,ABR58133,AAZ00280,BAH15437,BAH16386,AAU03008,ABR57847,BAH15424,ACD43867,AAZ00059,ACA00868,BAH16412,ACA00675,ABG91374,AAZ00293,CAK19259,ABR58211,ACD43880,ABY59843,CAJ98063,AAP89361,BAH15398,AAU02982,BAH16425,AAZ02386,ABR57834,AAZ02490,ABM68779,CAK19285,ACD44010,ABY59895,ACA00649,CAJ98011,ACA00933,ABR58403,AAZ00033,ACD44023,AAP90648,AAO67176,CAK19298,ACR09061,AAP89101,ACF03811,ABR58442,AAZ02529,ACF03824,ACA00946,ACF03837,ABR58481,AAZ00332,ACR09074,ACF03850,AAP90466,ABY90293,ACA00907,ABG91323,ACD43932,ABX59376,ABX59287,ACA00662,BAH16516,ABR58289,AAX45449,BAE14996,AAX45462,ABB45442,BAE15334,BAE15347,BAE15360,BAG15836,ACJ59854,ABF48756,BAE15373,BAE15386,BAE15399,BAE15412,BAE15425,ABB45455,BAE15438,BAE15451,BAE15464,BAE15477,ABG47398,BAE15490,BAE15503,BAE15529,BAE15542,ABB45468,BAE15555,ACJ59893,BAE15178,AAP90804,AAP90609,BAH15840,BAE15191,BAE15217,BAG15810,ACO07256,BAE15230,ABB45416,ABB45429,BAE15256,ACJ59880,AAZ01164,BAE15269,ABC60640,BAE15282,AAP89166,BAE15295,BAG15823,BAE15308,ABB79586,ABC60653,BAE15321,ACA22878,ABY66351,ABF49094,BAE14424,BAG15641,AAP89660,AAP90921,CAJ97907,AAZ02477,ABQ45214 MTND1 NADH dehydrogenase subunit 1|NADH dehydrogenase, subunit 1 (complex I) protein-coding 1350157 MT-ND2 mitochondrially encoded NADH dehydrogenase 2 1581054,1581055,1581056,2302313,2302294 15888325,15680405,15262184,15211636,14688809,12520145,12086702,12039661,11735027,11573146,16996290,12111463,15069201,15975594,17684475,18031868,16784756,15931342,18082471,17636359,17510502,17277043,16897192,15068427,14604458,15680495,12782420,19077432,19050702,18684894,18679013,18546119,18514404,18461138,18197537,17717444,17541740,16763358,16520888,16271520,16266403,12611891,19667492,19758471,3921850,9475751 1581054,1581055,1581056,2302313,2302294 4536 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4,ACM74940,ACM74953,ACM74966,ACM74979,ACM75018,ACM75031,ACM75044,ACM75057,ACM75070,ACM75083,ACM75096,ACM75109,ACM75122,ACM75135,ACM75148,ACM75161,ACM75174,ACM75187,ACM75200,ACM75213,ACM75226,ACM75239,ACM75252,ACM75265,ACM75278,ACM75291,ACM75304,ACM75317,ACM75343,ACM75356,ACM75395,ACM75421,ACM75447,ACM75460,ACM75473,ACM75486,ACM75499,ACM75512,ACM75525,ACM75538,ACM75564,ACM75577,ACM75590,ACM75603,ACM75616,ACM75629,ACM75642,ACM75655,ACM75668,ACM75681,ACM75694,ACM75707,ACM75720,ACM75733,ACM75746,ACM75759,ACM75772,ACM75785,ACM75798,ACM75811,ACM75824,ACM75837,ACM75850,ACM75863,ACM75876,ACM75889,ACM75902,ACM75915,ACM75928,ACM75941,ACM75954,ACM75967,ACM75980,ACM75993,ACM76006,ACM76019,ACM76032,ACM76045,ACM76058,ACM76071,ACM76084,ACM76097,ACM76110,ACM76123,ACM76136,ACM76149,ACM76162,ACM76175,ACM76188,ACM76201,ACM76214,ACM76227,ACM76240,ACM76266,ACM76279,ACM76292,ACM76305,ACM76318,ACM76331,ACM76344,ACM76357,ACM76370,ACM76383,ACM76396,ACM76409,ACM76422,ACM76435,ACM76448,ACM76461,ACM76474,ACM76487,ACM76500,ACM76513,ACM76526,ACM76539,ACM76552,ACM76565,ACM76578,ACM76591,ACM76604,ACM76617,ACM76630,ACM76643,ACM76656,ACM76669,ACM76682,ACM76773,ACM76786,ACM76799,ACM76812,ACM76825,ACM76838,ACM76851,ACM76864,ACM76877,ACM76890,ACM76903,ACM76916,ACM76929,ACM76942,ACM76955,ACM76968,ACM76981,ACM76994,ACM77007,ACM77020,ACM77033,ACM77046,ACM77072,ACM77085,ACM77098,ACM77111,ACM77124,ACM77137,ACM77150,ACM77163,ACM77176,ACM77189,ACM77202,ACM77215,ACM77228,ACM77241,ACM77254,ACM77267,ACM77280,ACM77293,ACM77306,ACM77319,ACM77332,ACM77345,ACM77358,ACM77371,ACM77384,ACM77397,ACM77410,ACM77423,ACM77436,ACM77449,ACM77462,ACM77475,ACM77488,ACM77501,ACM77514,ACM77527,ACM77540,ACM77553,ACM77566,ACM77579,ACM77592,ACM77605,ACM77618,ACM77631,ACM77644,ACM77657,ACM77670,ACM77683,ACM77696,ACM77709,ACN49210,ACN49234,ACN49247,ACN49260,ACN49273,ACN49286,ACN49474,ACN49487,ACN49500,ACN49513,ACN49526,ACN49539,ACN49552,ACN49565,ACN49578,ACN49604,ACN49617,ACN49630,ACN49643,ACN49669,ACN49682,ACN49695,ACN49708,ACN49721,ACN49734,ACN49747,ACN49773,ACN49825,ACN49838,ACN49851,ACN49864,ACN49877,ACN49890,ACN49903,ACN49915,ACN49928,ACN49941,ACN49954,ACQ73111,ACS48559,ACS48572,ACS48598,ACS48637,ACS48676,ACS48689,ACS48715,ACS48728,ACS48741,ACS48780,ACS48806,ACS48832,ACS48845,ACS48871,ACS48884,ACS48897,ACS48910,ACS48923,ACS48936,ACS48949,ACS48975,ACS49001,ACS49040,ACS49053,ACS49066,ACT15498,ACT15537,ACT15563,ACT15576,ACT15589,ACT15602,ACT16030,ACT16043,ACT16056,ACT36245,ACT36258,ACT46870,ACT46895,ACT53095,ACT89048,ACT89061,ACT89074,ACU00392,ACU00405,ACU52558,ACU52571,ACV69858,ACV69871,ACV69897,ACV90312,ACV90325,ACV90338,ACV90351,ACV90364,ACV90390,ACV92185,ACV92198,ACV92367,ACV92380,ACV92393,ACV92406,ACV92471,ACV92497,ACV92523,ACX84778,ACX84791,ACX84804,ACX93147,ACX93173,ACX93199,ACY78241,ACZ04124,ACZ37157,ACZ37170,ACZ37183,ACZ44307,ACZ44320,ACZ44359,ACZ44372,ACZ44385,ACZ55797,ACZ57397,ACZ57410,ACZ82986,ACZ82999,ADA55782,ADA55795,ADA55808,ADA55821,ADA55834,ADA55860,ADA63639,ADA63652,ADB07184,ADB07197,ADB07223,ADB07249,ADB07262,ADB07275,ADB07288,ADB07301,ADB07314,ADB07327,ADB07340,ADB07353,ADB43204,ADB43217,ADB43230,ADB43243,ADB78135,ADB78161,ADB78174,ADB78200,ADB78213,ADB78252,ADB80896,ADB80922,ADB80935,ADB80948,ADB80961,ADB80974,ADB80987,ADC52448,ADC66767,ADC66780,ADC66793,ADC66806,ADC66819,ADC66832,ADC79082,ADC79095,ADC79108,ADC79121,ADC79193,ADC79206,ADC79219,ADC79232,ADC79245,ADC79258,ADC79271,ADC79284,ADC79310,ADC90233,ADC90246,ADC90259,ADC90272,ADC90285,ADC90298,ADC90311,ADD13907,ADD13946,ADD13959,ADD20768,ADD20781,ADD20794,ADD20846,ADD20859,ADD31884,ADD31897,ADD31910,ADD31936,ADD31962,ADD31975,ADD31988,ADD32001,ADD71978,ADD71991,ADD72017,ADD72030,ADD72043,ADD72056,ADE05385,ADE05398,ADE05411,ADE05424,ADE05437,ADE05450,ADE05463,ADE05476,ADE33729,ADE33742,ADE33768,ADE33807,ADE33820,ADE33833,ADE33846,ADE33859,ADE33898,ADE42769,ADE42782,ADE42795,ADE42808,ADE42821,ADE42847,ADE67065,ADE67078,ADE67091,ADE67130,ADF42134,ADF42147,ADF42160,ADF42173,ADF42199,ADF56688,ADF56701,ADF56714,ADF56740,ADF56753,CBI69618,Q7GXY9 MTND2 MTND2|NADH dehydrogenase subunit 2 protein-coding 1343728 MT-ND3 mitochondrially encoded NADH dehydrogenase 3 2302314 11130070,14604458,18082471,18709563,17701054,15931342,19140314,19077432,19050702,18679013,18518927,18262047,17717444,17620498,17429907,17081685,17066297,16140977,15975594,15827561,15211636,11607774,17152068,17413873,16023078,14764913 2302314 4537 AF347015 NP_536850,AAK17890 MTND3 protein-coding 1344993 MT-ND4 mitochondrially encoded NADH dehydrogenase 4 1581057,1581058,1581059 20625049,20627642,20837795,20936779,19394449,19167085,18771762,18513491,17517394,15840367,19247386,19199242,19050702,17160945,17069814,17045122,16604388,15975594,15952130,15696471,14671420,11843871,17723226,17509949,17382898,16364244,16137960,17300996,12611891,14667819,19758471,3921850 1581057,1581058,1581059 4538 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ACM71126,ACM71139,ACM71152,ACM71165,ACM71178,ACM71191,ACM71204,ACM71217,ACM71230,ACM71243,ACM71256,ACM71269,ACM71282,ACM71295,ACM71308,ACM71321,ACM71334,ACM71347,ACM71360,ACM71373,ACM71386,ACM71399,ACM71412,ACM71425,ACM71490,ACM71503,ACM71516,ACM71529,ACM71542,ACM71555,ACM71568,ACM71581,ACM71594,ACM71607,ACM71620,ACM71633,ACM71646,ACM71659,ACM71672,ACM71685,ACM71698,ACM71711,ACM71724,ACM71737,ACM71750,ACM71763,ACM71776,ACM71789,ACM71802,ACM71815,ACM71828,ACM71841,ACM71867,ACM71880,ACM71919,ACM71932,ACM71945,ACM71958,ACM71971,ACM71984,ACM71997,ACM72010,ACM72023,ACM72036,ACM72049,ACM72062,ACM72075,ACM72088,ACM72127,ACM72140,ACM72153,ACM72166,ACM72179,ACM72192,ACM72205,ACM72218,ACM72231,ACM72244,ACM72257,ACM72270,ACM72283,ACM72296,ACM72309,ACM72322,ACM72335,ACM72348,ACM72361,ACM72374,ACM72387,ACM72400,ACM72413,ACM72426,ACM72439,ACM72452,ACM72465,ACM72478,ACM72491,ACM72504,ACM72517,ACM72530,ACM72543,ACM72556,ACM72569,ACM72582,ACM72595,ACM72608,ACM72621,ACM72634,ACM72647,ACM72660,ACM72673,ACM72686,ACM72725,ACM72738,ACM72751,ACM72764,ACM72777,ACM72790,ACM72803,ACM72816,ACM72829,ACM72842,ACM72855,ACM72868,ACM72881,ACM72894,ACM72907,ACM72920,ACM72933,ACM72946,ACM72959,ACM72972,ACM72985,ACM72998,ACM73011,ACM73024,ACM73037,ACM73050,ACM73063,ACM73076,ACM73089,ACM73102,ACM73453,ACM73466,ACM73479,ACM73492,ACM73505,ACM73518,ACM73544,ACM73557,ACM73570,ACM73583,ACM73596,ACM73609,ACM73622,ACM73635,ACM73648,ACM73661,ACM73674,ACM73687,ACM73700,ACM73713,ACM73726,ACM73739,ACM73752,ACM73765,ACM73778,ACM73791,ACM73817,ACM73830,ACM73843,ACM73856,ACM73869,ACM73882,ACM73895,ACM73908,ACM73986,ACM73999,ACM74012,ACM74025,ACM74038,ACM74051,ACM74064,ACM74077,ACM74090,ACM74103,ACM74116,ACM74129,ACM74142,ACM74155,ACM74168,ACM74181,ACM74194,ACM74207,ACM74220,ACM74233,ACM74246,ACM74259,ACM74272,ACM74285,ACM74298,ACM74311,ACM74324,ACM74337,ACM74350,ACM74363,ACM74389,ACM74402,ACM74415,ACM74428,ACM74441,ACM74454,ACM74467,ACM74480,ACM74493,ACM74506,ACM74519,ACM74532,ACM74545,ACM74558,ACM74571,ACM74584,ACM74597,ACM74610,ACM74623,ACM74636,ACM74649,ACM74662,ACM74675,ACM74688,ACM74701,ACM74714,ACM74727,ACM74740,ACM74753,ACM74766,ACM74779,ACM74792,ACM74805,ACM74818,ACM74831,ACM74844,ACM74857,ACM74870,ACM74883,ACM74909,ACM74922,ACM74948,ACM74961,ACM74974,ACM74987,ACM75117,ACM75195,ACM75208,ACM75221,ACM75234,ACM75247,ACM75260,ACM75273,ACM75286,ACM75299,ACM75312,ACM75325,ACM75351,ACM75364,ACM75429,ACM75455,ACM75468,ACM75481,ACM75494,ACM75507,ACM75520,ACM75533,ACM75585,ACM75637,ACM75650,ACM75663,ACM75676,ACM75689,ACM75702,ACM75715,ACM75728,ACM75741,ACM75754,ACM75767,ACM75806,ACM75819,ACM75832,ACM75845,ACM75858,ACM75871,ACM75884,ACM75897,ACM75910,ACM75923,ACM75936,ACM75949,ACM75962,ACM75975,ACM76001,ACM76014,ACM76027,ACM76040,ACM76053,ACM76066,ACM76079,ACM76092,ACM76105,ACM76118,ACM76131,ACM76144,ACM76157,ACM76170,ACM76183,ACM76196,ACM76209,ACM76222,ACM76235,ACM76248,ACM76261,ACM76274,ACM76287,ACM76300,ACM76313,ACM76365,ACM76378,ACM76391,ACM76417,ACM76430,ACM76443,ACM76456,ACM76469,ACM76482,ACM76495,ACM76508,ACM76521,ACM76534,ACM76547,ACM76560,ACM76573,ACM76586,ACM76599,ACM76612,ACM76625,ACM76638,ACM76651,ACM76664,ACM76677,ACM76690,ACM76703,ACM76716,ACM76729,ACM76742,ACM76755,ACM76768,ACM76781,ACM76794,ACM76807,ACM76820,ACM76833,ACM76846,ACM76859,ACM76872,ACM76898,ACM76911,ACM76924,ACM76937,ACM76950,ACM76963,ACM76976,ACM76989,ACM77002,ACM77015,ACM77028,ACM77041,ACM77054,ACM77067,ACM77080,ACM77093,ACM77106,ACM77119,ACM77132,ACM77145,ACM77158,ACM77171,ACM77184,ACM77197,ACM77210,ACM77223,ACM77236,ACM77249,ACM77262,ACM77275,ACM77288,ACM77301,ACM77314,ACM77327,ACM77340,ACM77353,ACM77366,ACM77379,ACM77392,ACM77405,ACM77418,ACM77431,ACM77444,ACM77457,ACM77470,ACM77483,ACM77496,ACM77509,ACM77522,ACM77535,ACM77548,ACM77561,ACM77574,ACM77587,ACM77600,ACM77613,ACM77626,ACM77639,ACM77652,ACM77665,ACM77678,ACM77691,ACM77717,ACN49218,ACN49230,ACN49243,ACN49256,ACN49269,ACN49282,ACN49495,ACN49508,ACN49521,ACN49534,ACN49547,ACN49560,ACN49573,ACN49586,ACN49599,ACN49612,ACN49625,ACN49638,ACN49651,ACN49664,ACN49690,ACN49703,ACN49716,ACN49742,ACN49755,ACN49768,ACN49781,ACN49794,ACN49807,ACN49820,ACN49833,ACN49846,ACN49859,ACN49872,ACN49885,ACN49898,ACN49910,ACN49923,ACN49936,ACN49949,ACN49962,ACQ73106,ACQ73119,ACQ73132,ACQ73145,ACR48362,ACS48567,ACS48580,ACS48593,ACS48606,ACS48619,ACS48645,ACS48658,ACS48671,ACS48697,ACS48710,ACS48723,ACS48736,ACS48749,ACS48762,ACS48775,ACS48788,ACS48801,ACS48814,ACS48827,ACS48840,ACS48879,ACS48892,ACS48905,ACS48918,ACS48931,ACS48944,ACS48957,ACS48970,ACS48983,ACS48996,ACS49009,ACS49022,ACS49035,ACS49048,ACS49061,ACS49074,ACS49087,ACT15506,ACT15519,ACT15532,ACT15545,ACT15558,ACT15571,ACT15610,ACT16038,ACT16051,ACT16064,ACT36253,ACT46878,ACT46903,ACT53103,ACT80265,ACT88843,ACT88856,ACT88869,ACT88882,ACT88895,ACT88908,ACT88921,ACT88934,ACT88947,ACT88960,ACT88973,ACT89056,ACT89069,ACT89082,ACU00400,ACU00413,ACU52566,ACU52579,ACV32516,ACV69866,ACV69879,ACV69892,ACV69905,ACV90320,ACV90333,ACV90372,ACV90398,ACV92180,ACV92206,ACV92219,ACV92232,ACV92245,ACV92258,ACV92284,ACV92297,ACV92310,ACV92323,ACV92336,ACV92362,ACV92414,ACV92427,ACV92440,ACV92453,ACV92466,ACV92479,ACV92492,ACV92518,ACV92544,ACV92557,ACX84760,ACX84773,ACX84786,ACX84812,ACX84825,ACX93090,ACX93103,ACX93116,ACX93129,ACX93142,ACX93155,ACX93168,ACX93181,ACX93194,ACX93207,ACY78236,ACY78249,ACZ04119,ACZ04132,ACZ37152,ACZ37165,ACZ37178,ACZ37191,ACZ44315,ACZ44328,ACZ44354,ACZ44367,ACZ44393,ACZ55805,ACZ57418,ACZ82994,ACZ83007,ACZ83033,ADA55790,ADA55803,ADA55829,ADA55842,ADA55868,ADA63660,ADB07192,ADB07205,ADB07231,ADB07244,ADB07257,ADB07270,ADB07283,ADB07296,ADB07309,ADB07322,ADB07335,ADB07348,ADB43225,ADB43238,ADB43251,ADB78143,ADB78156,ADB78169,ADB78182,ADB78195,ADB78208,ADB78221,ADB78234,ADB78247,ADB78260,ADB80904,ADB80917,ADB80930,ADB80943,ADB80956,ADB80982,ADB80995,ADC52443,ADC52456,ADC52469,ADC52482,ADC66775,ADC66788,ADC66801,ADC66814,ADC66827,ADC66840,ADC79077,ADC79090,ADC79103,ADC79116,ADC79129,ADC79201,ADC79214,ADC79227,ADC79240,ADC79253,ADC79266,ADC79279,ADC79292,ADC79305,ADC79318,ADC90241,ADC90254,ADC90293,ADC90306,ADC90319,ADD13902,ADD13915,ADD13928,ADD13941,ADD13954,ADD13967,ADD20789,ADD20802,ADD20815,ADD20828,ADD20841,ADD20854,ADD31892,ADD31905,ADD31918,ADD31931,ADD31944,ADD31957,ADD31970,ADD31983,ADD31996,ADD32009,ADD71986,ADD71999,ADD72012,ADD72025,ADD72038,ADD72051,ADD72064,ADE05393,ADE05406,ADE05419,ADE05432,ADE05445,ADE05471,ADE33763,ADE33776,ADE33802,ADE33815,ADE33828,ADE33841,ADE33854,ADE33867,ADE33880,ADE33893,ADE33906,ADE42777,ADE42803,ADE42816,ADE42829,ADE42842,ADE42855,ADE67073,ADE67086,ADE67099,ADE67112,ADE67125,ADE67138,ADF42142,ADF42168,ADF42181,ADF42194,ADF42207,ADF42220,ADF56696,ADF56709,ADF56722,ADF56735,ADF56748,CBI69626,Q7GXZ3,ACH71147,ACH71160,ACH71173,ACH71186,ACH71199,ACH71212,ACH71225,ACH71238,ACI95799,ACI95812,ACI95825,ACI95838,ACI95851,ACI95864,ACI95877,ACK55205,ACK55218,ACK55231,ACK55244,ACK55257,ACK55270,ACK55283,ACK55309,ACK55322,ACK55348,ACK55361,ACK55374,ACK55387,ACK55400,ACK55413,ACK55426,ACK55439,ACK55452,ACK55465,ACK55478,ACK55491,ACK55504,ACK55517,ACK55530,ACK55543,ACK55556,ACK55569,ACK55582,ACK55595,ACK55621,ACK55634,ACK55686,ACK55699,ACK55712,ACK55725,ACK55738,ACK55777,ACK55790,ACK55803,ACK55816,ACK55829,ACK55842,ACK55855,ACK55868,ACK55881,ACK76875,ACK76888,ACK76901,ACK76914,ACK76927,ACK76940,ACK76953,ACK76966,ACK76979,ACK76992,ACK77005,ACK77018,ACK77031,ACK77044,ACK77057,ACK77096,ACK77109,ACM69397,ACM69423,ACM69462,ACM69501,ACM69566,ACM69618,ACM69631,ACM69800,ACM69826,ACM69865,ACM69878,ACM69891,ACM69904,ACM69917,ACM69930,ACM69943,ACM69969,ACM69982,ACM69995,ACM70008,ACM70021,ACM70073,ACM70112,ACM70125,ACM70177,ACM70190,ACM70203,ACM70229,ACM70242,ACM70268,ACM70281,ACM70307,ACM70320,ACM70333,ACM70359,ACM70372,ACM70385,ACM70398,ACM70411,ACM70424,ACM70437,ACM70450,ACM70463,ACM70476,ACM70489,ACM70502 MTND4 NADH dehydrogenase subunit 4|NADH dehydrogenase, subunit 4 (complex I) protein-coding 1346946 MT-ND4L mitochondrially encoded NADH 4L 14667819,19758471,3921850,19050702,17123117 4539 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14523,BAE10530,ABU67405,ABR58424,BAE10543,BAE10179,ABU67932,ABR93655,AAU02288,BAE14900,BAH11062,ABP99538,ABR58219,BAE14016,ABR95937,BAE13678,ACH41470,AAU02678,AAY99924,BAE10088,ACA01303,BAE12716,ABO31022,ACD44031,AAK17670,BAE12729,ABP99239,BAE12742,BAE08450,BAE08463,BAE08476,AAX15480,BAE08489,ABR98624,BAE08515,ABO39794,ABR93408,ABS57612,ABS58235,ABR94146,ABD72630,ACD44070,BAE08710,ABR98572,BAE08723,BAE08736,AAX15519,ABY53331,ACD35355,ABY53344,BAE08749,ABR93460,ACD35282,AAZ00444,ABR99559,BAE08762,ACD44083,AAK17696,BAE08775,AAZ00431,ACD85950,ABP99590,AAP90370,ABR58627,ABS57689,BAE08788,ABL73694,ABL73681,AAZ00418,BAE12703,ABB97563,ABL60796,ABR95236,ABL60783,ACD76610,ABO39265,ABL60731,ABU47010,ABB79555,ABL60718,ABC96561,ABP99070,ABU47023,ABU47036,ABU46997,ABL60757,ACM16093,ABL60744,ABO39252,ABB79581,ABO39239,ACD76636,ABB79568,ACA66047,ABU46854,ACA66034,ABB79659,ABB98096,ABR94509,ABR95210,ABB98083,ABB98070,AAL48350,ABB98057,AAL48349,ABB79646,ABB98044,ABB98031,ABB98018,ABU46802,AAL48354,ABU46815,AAL48353,ABB98148,ABU46828,ABB98135,ABR96807,ABC96509,ABR96794,ABB98122,ABB98109,AAL48352,AAL48351,ACD56095,ACA66060,ABU46841,ABB97849,ABB97836,ABB97823,ABB97810,ABB97797,ABB97576,ABU47413,BAH16511,BAH16498,ABC96639,ABF48751,BAH16485,BAH15705,AAN14742,ABU47686,ABF48959,BAH15692,ABF48972,ABF48985,AAN14753,BAH15679,BAH15666,ACH86554,BAH15653,ABU47699,ABR94483,BAH15640,BAH15627,ABF48998,BAH15614,BAH15809,ABF48907,BAH15796,ABF48920,AAN14720,ABJ91047,ABF48933,ABU47673,BAH15783,BAH15770,ABS58417,BAH15757,BAH15744,BAH15731,AAN14731,ABF48946,BAH15718,BAH15536,ABU47764,AAN14797,BAH15523,BAH15510,BAH15497,ABF49037,ABR96690,ABU47777,ACH86580,AAN14808,BAH15484,ABU47790,ABM68657,ABF49050,ABM68670,ABF49063,ABB79282,ABU47712,ABR96716,BAH16524,ACR38934,ABJ89286,ACR38947,ACR38960,ACA80805,ACA80792,ABJ89299,ABJ89312,ABR97351,ABR94677,ABN88604,AAP48433,AAP48446,ABO39590,ABJ89804,ACB20594,AAP48408,ACB20607,ACB20620,ABR96937,ACB20633,AAP48421,ABO39577,ABN88617,AAP48459,ABR95093,AAP48472,AAO88600,ABR96924,ABW96386,ABW96373,ABR95080,ABR95041,ABJ89546,ABR95054,AAP48343,ABJ89559,AAP48356,ABJ89572,ABJ89494,ABJ89507,ABR95028,ABO39627,AAO88730,ABJ89520,AAP48317,ABJ89533,AAP48330,ABR95067,AAP48382,ABJ89752,ABO39615,ABJ89765,AAP48395,ABJ89778,ABJ89791,ACB20542,ACB20555,ACB20568,ACB20581,ABJ89585,ABU65695,ACJ36271,AAP89395,AAP89408,BAG14401,ACJ36284,AAR92530,ABR94431,ABU67005,BAG14414,AAP89421,ACJ36297,ABU67018,AAR92517,AAZ39337,ABR95678,ABN72717,ABS58352,AAP89447,ABB78710,AAP89460,BAG14544,ABU64092,BAG15103,BAG14557,AAB58951,BAG14570,ABU67067,BAG14583,BAG14596,ABR94289,BAG38923,ABR58037,BAG14609,ABU65721,BAG14479,BAG14492,ABB78671,AAZ39298,BAG14505,ABR96431,ABU65734,BAG14518,BAG14531,AAZ39285,AAP89434,ABB78684,ABU67054,ABB78697,ABB78216,AAR92660,ACR16709,ACJ71169,ACR16735,AAP89330,ABU65669,ABR57959,AAT37900,ABB51432,AAT37887,AAZ39376,AAU02262,BAE14406,ABY59864,BAE10075,BAE10673,ABU67828,ABD61207,AAZ00145,BAE14055,ABR98234,ABR99740,AAU02249,ACI95228,ABR93901,ABS58300,BAE14068,BAE14913,BAE10686,BAE10699,AAU02756,BAE14588,ABR98429,ACI95215,ABU67958,BAE14575,AAY99911,AAP89785,ABR99831,AAK17891,ABR93888,ABS58079,ABD61181,BAE10634,AAU02730,BAE10114,ABU67945,ABU67470,BAE10101,ABS00001,BAE10647,ABN13467,BAE14042,AAU02743,ABR99844,BAE10660,ABR93720,ABY59851,ABP99694,ABR99013,AAZ01692,CAJ97993,CAJ97980,AAP91527,CAJ97967,AAZ01679,ABR96002,ABR93057,ABB91017,ACS48540,AAP91514,AAZ01666,BAE13665,ABR58665,ACI47289,ABL73759,ABR98585,BAE08645,ABR99546,ABL73746,ABL73733,ABL73720,ABP99603,ABS57638,BAE08658,ACI47305,ACD35381,AAZ00483,BAE08671,ABL73707,BAE08684,BAE15095,ABR93434,AAZ00470,ABR94159,ACO07251,ABR93447,AAP90396,AAZ00457,ACD44057,AAP90383,CAH59701,ACA01161,BAE12261,BAE12274,AAZ00626,AAZ00613,AAX15441,AAO88431,BAE12287,BAE12300,BAE12313,BAE12326,BAE12339,ACA01174,ACA01187,BAE12352,BAE12365,BAE12378,BAE12391,ABO39846,ABO31048,AAZ00600,ACA01200,ABR58740,ABR58728,BAE12404,AAK17631,ABR94133,AAX15389,ACD43953,BAE12144,BAE12157,ACA01096,BAE08632,ABB97784,ABB97771,ABB97758,ABB97745,ABB97732,ABB97719,ABO39278,ABC96535,ABR95223,ABB97706,ABB97693,ABB97680,ABB97667,ABB97654,AAL48348,ABB98005,ABU46867,ABB97992,ABU46880,ABC96522,ABB97979,ABB97966,ABB97953,ABB97940,ABB97927,ABB97914,ABB97901,ABB97888,ABU46893,ABB97875,ABB97862,ABL60432,ABL60419,ABU47218,ABU47231,ACH86333,ABL60406,ABR95262,ABG48652,ABL60393,ACH86346,ACH86359,ABL60380,ABU47244,ABL60367,ACD78158,ABG54150,ABU47153,ABL60471,ABG54137,ABU47166,ABU47179,ABB79451,ABU47192,ABL60458,ABB79438,ABB79425,ABL60445,ABU47205,ABB79412,ABY90197,AAN14764,ABU47725,ABL60198,BAH15601,BAH15588,AAN14775,BAH15575,ACH86567,ABU47738,ABF49011,ABR96703,BAH15562,AAN14786,ABF49024,ABU47751,BAH15549,BAH16017,ABB79321,ABU47608,ABN45811,BAH16004,AAN14654,BAH15991,ABJ90917,ABJ90930,AAN14665,ABF48855,ACD78210,ABU47621,BAH15978,ABF48868,ABJ90943,AAN14676,ACH86515,ABJ90956,BAH15965,ACH86502,ABR94496,ACL00539,ABJ90865,ABJ90891,BAH16095,AAN14632,BAH16082,ABB79347,ABJ90904,BAH16069,ACD78197,AAN14643,BAH16056,BAH16043,BAH16030,ABF48842,ABN45824,ABB79334,ABB79308,ABU47647,BAH15874,AAN14698,ABR96742,BAH15861,ABJ89611,ABJ89624,AAP48369,ABJ89637,ABR96950,BAG15727,AAR94688,ABU66525,ABU64788,AAO67081,ABU65578,AAO67093,ABP99200,AAO67106,AAR93115,ABO70901,AAR94701,BAG15714,ABR97831,ABR96314,ABR57635,ABU66538,AAO67119,ABW36092,AAO67132,AAR94714,AAR94727,ABW36105,ABW36118,AAR94740,ABU64775,ABR96223,AAO67068,AAO66626,BAG15818,BAG15805,AAR94597,ABO37012,BAG15792,AAR94610,ABU64814,BAG15779,ABR57609,AAR94623,ABR57622,AAR94636,BAG15766,AAR94649,BAG15753,AAR94662,AAR94675,AAR93128,BAG15740,ABB45554,ABU64801,ABB45567,ABX83656,AAR94844,ABX83643,AAR93063,ABX83629,ABJ89598,AAT37874,AAP89343,AAR92647,ABP57117,ABR95561,ABB51445,BAG15129,AAR92673,ABB51393,ACR16696,ABU64233,ABO70979,ABR57946,ABU66953,ACR16722,ABU64220,ACR16748,AAO88808,ABB51406,ABB78619,ABU64207,ACH87983,ACJ71182,ACR16774,ABU64194,ABB51419,ABB78645,ABR97870,ABU64143,ACQ63612,ABU66992,ABR57985,AAO88847,AAR92595,AAR92582,AAR92569,AAP89382,ABR57998,ABU64130,ABL85918,BAG39287,ACQ63586,ACQ63573,ABR58011,ABU65682,AAR92556,ABB78229,AAR92634,AAZ39363,ABR57972,AAP89356,ABU64168,ABP99161,ABB78632,ABR96210,ABM79844,BAG38936,ABB51458,ABU66966,ABB78242,ABU65889,ABU64181 MTND4L NADH dehydrogenase subunit 4L|NADH dehydrogenase, subunit 4L (complex I)|mitochondrially encoded nadh dehydrogenase 4l protein-coding 1347448 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 1581060,2302316 11130070,19054921,18709563,18495510,18396045,17898419,18270557,18332249,15931342,17400793,17106447,14730434,19050702,19026397,18546119,16331560,15975594,14639589,12772452,17940288,17614984,17317336,17702497,15596151,17341490,14520659,14557590,15946665,16240359,14759509,12031626 1581060,2302316 4540 AF347015 NP_536853,AAK17893 MTND5 protein-coding 1348759 MT-ND6 mitochondrially encoded NADH dehydrogenase 6 1581061 19394449,18440284,18674747,19247386,19050702,17045122,16604388,15952130,15470367,14671420,17452034,15922297,12112086,16337195,20691156,19732751,19758471,20019223,20052369 1581061 4541 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,BAE13187,ABO36885,ABU64587,ACM16109,BAH11026,ABO36898,BAE13174,BAE14344,ABU47299,BAE14331,ABU47312,BAE14318,ABL60409,ABU47325,BAE14305,ABL60422,ABU47338,BAE14292,ABL60435,ABU47351,BAE14279,ABU47364,ABU47182,ACL00555,ABU47195,ACA22785,ACA22564,BAE08791,ABR99704,ABR99964,ACA22551,AAK17400,AAK17686,ABR99691,ACA22798,ABR99549,AAK17504,ABR99990,ABG48655,CAK19192,BAE09012,BAE09350,ABR99678,BAE09025,ACA22538,ABG54244,BAE09311,AAK17634,ACA22733,ABR99951,ABR99769,AAK17491,ABR99743,ACA22616,BAE09220,BAE08986,ACA22590,BAE09207,ABS00017,BAE09324,AAK17413,ABB51253,BAE08934,ABR99925,BAE09337,AAK17452,ABD72627,BAE08999,ACA22772,ACA22577,ABU64017,ACA49758,ABU64030,ABU64043,ACA49745,ABU64056,ABU64069,ACK77111,ACM69399,ACM69412,ACM69425,ACM69438,ACM69451,ACM69464,ACM69490,ACM69503,ACM69516,ACM69529,ACM69542,ACM69555,ACM69568,ACM69581,ACM69594,ACM69607,ACM69620,ACM69633,ACM69646,ACM69659,ACM69672,ACM69685,ACM69698,ACM69711,ACM69724,ACM69737,ACM69750,ACM69763,ACM69776,ACM69789,ACM69802,ACM69815,ACM69828,ACM69841,ACM69854,ACM69867,ACM69880,ACM69893,ACM69906,ACM69919,ACM69932,ACM69945,ACM69971,ACM69984,ACM69997,ACM70010,ACM70023,ACM70036,ACM70049,ACM70062,ACM70075,ACM70088,ACM70101,ACM70114,ACM70127,ACM70140,ACM70153,ACM70166,ACM70179,ACM70192,ACM70205,ACM70218,ACM70231,ACM70244,ACM70257,ACM70270,ACM70283,ACM70296,ACM70309,ACM70322,ACM70335,ACM70361,ACM70374,ACM70387,ACM70400,ACM70413,ACM70426,ACM70439,ACM70452,ACM70465,ACM70478,ACM70491,ACM70504,ACM70517,ACM70530,ACM70543,ACM70556,ACM70569,ACM70582,ACM70595,ACM70608,ACM70621,ACM70634,ACM70647,ACM70660,ACM70673,ACM70686,ACM70699,ACM70712,ACM70725,ACM70738,ACM70751,ACM70764,ACM70777,ACM70790,ACM70803,ACM70816,ACM70829,ACM70842,ACM70855,ACM70868,ACM70881,ACM70894,ACM70907,ACM70920,ACM70933,ACM70946,ACM70959,ACM70985,ACM70998,ACM71011,ACM71024,ACM71037,ACM71050,ACM71063,ACM71076,ACM71089,ACM71102,ACM71115,ACM71128,ACM71141,ACM71154,ACM71167,ACM71180,ACM71193,ACM71206,ACM71219,ACM71232,ACM71245,ACM71258,ACM71271,ACM71310,ACM71323,ACM71336,ACM71375,ACM71388,ACM71401,ACM71414,ACM71427,ACM71492,ACM71505,ACM71518,ACM71531,ACM71544,ACM71557,ACM71570,ACM71583,ACM71596,ACM71609,ACM71622,ACM71635,ACM71648,ACM71661,ACM71674,ACM71687,ACM71700,ACM71713,ACM71726,ACM71739,ACM71752,ACM71765,ACM71778,ACM71791,ACM71804,ACM71817,ACM71830,ACM71843,ACM71856,ACM71869,ACM71882,ACM71895,ACM71908,ACM71921,ACM71934,ACM71947,ACM71960,ACM71973,ACM71986,ACM71999,ACM72012,ACM72025,ACM72038,ACM72051,ACM72064,ACM72077,ACM72090,ACM72103,ACM72116,ACM72129,ACM72142,ACM72155,ACM72168,ACM72181,ACM72194,ACM72207,ACM72220,ACM72233,ACM72246,ACM72259,ACM72272,ACM72285,ACM72298,ACM72311,ACM72324,ACM72337,ACM72350,ACM72363,ACM72376,ACM72389,ACM72402,ACM72415,ACM72428,ACM72441,ACM72454,ACM72467,ACM72480,ACM72493,ACM72506,ACM72519,ACM72532,ACM72545,ACM72558,ACM72571,ACM72584,ACM72597,ACM72610,ACM72623,ACM72636,ACM72649,ACM72662,ACM72675,ACM72688,ACM72701,ACM72714,ACM72727,ACM72740,ACM72753,ACM72766,ACM72779,ACM72792,ACM72805,ACM72818,ACM72831,ACM72844,ACM72857,ACM72870,ACM72883,ACM72896,ACM72909,ACM72922,ACM72935,ACM72948,ACM72961,ACM72974,ACM72987,ACM73000,ACM73013,ACM73026,ACM73039,ACM73065,ACM73078,ACM73091,ACM73104,ACM73117,ACM73130,ACM73143,ACM73156,ACM73169,ACM73182,ACM73195,ACM73208,ACM73221,ACM73234,ACM73247,ACM73260,ACM73273,ACM73286,ACM73299,ACM73312,ACM73325,ACM73338,ACM73351,ACM73364,ACM73377,ACM73390,ACM73403,ACM73416,ACM73429,ACM73442,ACM73455,ACM73468,ACM73481,ACM73494,ACM73507,ACM73520,ACM73533,ACM73546,ACM73559,ACM73572,ACM73585,ACM73598,ACM73611,ACM73624,ACM73637,ACM73650,ACM73663,ACM73676,ACM73689,ACM73702,ACM73715,ACM73728,ACM73741,ACM73754,ACM73767,ACM73780,ACM73793,ACM73806,ACM73819,ACM73832,ACM73845,ACM73858,ACM73871,ACM73884,ACM73897,ACM73910,ACM73923,ACM73936,ACM73949,ACM73962,ACM73975,ACM73988,ACM74001,ACM74014,ACM74027,ACM74040,ACM74053,ACM74066,ACM74079,ACM74092,ACM74105,ACM74118,ACM74131,ACM74144,ACM74157,ACM74170,ACM74183,ACM74196,ACM74209,ACM74222,ACM74235,ACM74248,ACM74261,ACM74274,ACM74287,ACM74300,ACM74326,ACM74339,ACM74352,ACM74365,ACM74378,ACM74391,ACM74404,ACM74417,ACM74430,ACM74443,ACM74456,ACM74469,ACM74482,ACM74495,ACM74508,ACM74521,ACM74534,ACM74547,ACM74560,ACM74573,ACM74586,ACM74599,ACM74612,ACM74625,ACM74638,ACM74651,ACM74664,ACM74677,ACM74690,ACM74703,ACM74729,ACM74742,ACM74755,ACM74768,ACM74781,ACM74794,ACM74807,ACM74820,ACM74833,ACM74846,ACM74859,ACM74872,ACM74885,ACM74911,ACM74924,ACM74950,ACM74963,ACM74976,ACM74989,ACM75197,ACM75210,ACM75262,ACM75275,ACM75314,ACM75483,ACM75509,ACM75522,ACM75535,ACM75600,ACM75613,ACM75626,ACM75665,ACM75678,ACM75691,ACM75704,ACM75717,ACM75730,ACM75743,ACM75756,ACM75769,ACM75782,ACM75795,ACM75808,ACM75821,ACM75834,ACM75847,ACM75860,ACM75873,ACM75886,ACM75899,ACM75912,ACM75925,ACM75938,ACM75951,ACM75964,ACM75977,ACM75990,ACM76003,ACM76016,ACM76029,ACM76042,ACM76055,ACM76068,ACM76081,ACM76094,ACM76107,ACM76120,ACM76133,ACM76146,ACM76159,ACM76172,ACM76185,ACM76198,ACM76211,ACM76224,ACM76237,ACM76250,ACM76263,ACM76276,ACM76289,ACM76302,ACM76315,ACM76328,ACM76341,ACM76354,ACM76367,ACM76380,ACM76393,ACM76406,ACM76419,ACM76432,ACM76445,ACM76458,ACM76471,ACM76484,ACM76523,ACM76705,ACM76718,ACM76731,ACM76744,ACM76757,ACM76770,ACM76783,ACM76796,ACM76809,ACM76822,ACM76835,ACM76848,ACM76861,ACM76874,ACM76887,ACM76900,ACM76913,ACM76926,ACM76939,ACM76952,ACM76965,ACM76978,ACM76991,ACM77004,ACM77017,ACM77030,ACM77043,ACM77056,ACM77069,ACM77082,ACM77095,ACM77108,ACM77121,ACM77134,ACM77147,ACM77160,ACM77173,ACM77186,ACM77199,ACM77212,ACM77225,ACM77238,ACM77251,ACM77264,ACM77277,ACM77290,ACM77303,ACM77316,ACM77329,ACM77342,ACM77355,ACM77368,ACM77381,ACM77394,ACM77407,ACM77420,ACM77433,ACM77446,ACM77459,ACM77472,ACM77485,ACM77498,ACM77511,ACM77524,ACM77537,ACM77550,ACM77563,ACM77576,ACM77589,ACM77602,ACM77615,ACM77628,ACM77641,ACM77654,ACM77667,ACM77680,ACM77719,ACN49220,ACN49232,ACN49245,ACN49258,ACN49271,ACN49284,ACN49484,ACN49497,ACN49510,ACN49523,ACN49536,ACN49549,ACN49562,ACN49575,ACN49588,ACN49601,ACN49614,ACN49627,ACN49640,ACN49653,ACN49666,ACN49679,ACN49692,ACN49718,ACN49731,ACN49744,ACN49757,ACN49770,ACN49783,ACN49796,ACN49809,ACN49835,ACN49848,ACN49861,ACN49874,ACN49887,ACN49900,ACN49912,ACN49938,ACN49951,ACN49964,ACQ73108,ACQ73121,ACQ73134,ACQ73147,ACR48364,ACS48569,ACS48582,ACS48595,ACS48608,ACS48621,ACS48634,ACS48660,ACS48673,ACS48699,ACS48712,ACS48738,ACS48751,ACS48764,ACS48777,ACS48790,ACS48803,ACS48816,ACS48842,ACS48855,ACS48868,ACS48881,ACS48907,ACS48920,ACS48933,ACS48946,ACS48959,ACS48972,ACS48998,ACS49011,ACS49024,ACS49037,ACS49050,ACS49063,ACS49089,ACT15508,ACT15521,ACT15534,ACT15547,ACT15560,ACT15573,ACT15586,ACT16040,ACT16053,ACT16066,ACT36255,ACT36268,ACT46880,ACT46905,ACT53105,ACT88845,ACT88858,ACT88871,ACT88884,ACT88897,ACT88910,ACT88923,ACT88936,ACT88949,ACT88962,ACT88975,ACT89058,ACT89071,ACT89084,ACU00415,ACU52568,ACU52581,ACV32518,ACV69868,ACV69894,ACV69907,ACV90322,ACV90335,ACV90348,ACV90361,ACV90374,ACV90387,ACV90400,ACV92182,ACV92208,ACV92221,ACV92234,ACV92247,ACV92273,ACV92286,ACV92299,ACV92338,ACV92351,ACV92364,ACV92416,ACV92429,ACV92442,ACV92455,ACV92468,ACV92481,ACV92494,ACV92520,ACV92533,ACV92546,ACV92559,ACX84762,ACX84775,ACX84788,ACX84801,ACX84814,ACX84827,ACX93092,ACX93105,ACX93118,ACX93131,ACX93144,ACX93157,ACX93170,ACX93183,ACX93196,ACX93209,ACY78238,ACY78251,ACZ04121,ACZ04134,ACZ37154,ACZ37167,ACZ37180,ACZ37193,ACZ44317,ACZ44330,ACZ44343,ACZ44356,ACZ44369,ACZ44382,ACZ44395,ACZ55807,ACZ57407,ACZ82996,ACZ83009,ACZ83035,ADA55792,ADA55805,ADA55818,ADA55831,ADA55844,ADA55857,ADA55870,ADA82224,ADA82225,ADA82226,ADB07194,ADB07207,ADB07220,ADB07233,ADB07246,ADB07259,ADB07272,ADB07285,ADB07298,ADB07311,ADB07337,ADB07350,ADB07363,ADB43214,ADB43227,ADB43240,ADB43253,ADB78145,ADB78158,ADB78171,ADB78184,ADB78197,ADB78210,ADB78223,ADB78236,ADB78249,ADB78262,ADB80906,ADB80919,ADB80932,ADB80945,ADB80958,ADB80971,ADB80984,ADB80997,ADC52445,ADC52458,ADC52471,ADC52484,ADC66777,ADC66790,ADC66803,ADC66816,ADC66829,ADC66842,ADC79079,ADC79092,ADC79105,ADC79118,ADC79131,ADC79203,ADC79216,ADC79242,ADC79255,ADC79268,ADC79281,ADC79294,ADC79307,ADC79320,ADC90243,ADC90256,ADC90269,ADC90282,ADC90295,ADC90308,ADC90321,ADD13904,ADD13917,ADD13930,ADD13943,ADD13956,ADD13969,ADD20778,ADD20791,ADD20804,ADD20817,ADD20830,ADD20843,ADD20856,ADD20869,ADD31894,ADD31907,ADD31920,ADD31933,ADD31946,ADD31959,ADD31972,ADD31985,ADD31998,ADD71988,ADD72001,ADD72014,ADD72027,ADD72040,ADD72053,ADD72066,ADE05395,ADE05408,ADE05421,ADE05434,ADE05447,ADE05460,ADE05473,ADE05486,ADE33726,ADE33739,ADE33752,ADE33765,ADE33778,ADE33791,ADE33804,ADE33817,ADE33830,ADE33843,ADE33856,ADE33869,ADE33882,ADE33895,ADE33908,ADE42779,ADE42792,ADE42818,ADE42831,ADE42844,ADE42857,ADE67075,ADE67088,ADE67101,ADE67114,ADE67127,ADE67140,ADF42144,ADF42157,ADF42170,ADF42183,ADF42196,ADF42209,ADF42222,ADF56698,ADF56711,ADF56724,ADF56737,ADF56750,ADF56763,CBI69628,Q7GXZ1,ACH71110,ACH71123,ACH71136,ACH71149,ACH71162,ACH71175,ACH71188,ACH71201,ACH71214,ACH71227,ACH71240,ACH71253,ACI95801,ACI95814,ACI95827,ACI95840,ACI95853,ACI95866,ACI95879,ACK55207,ACK55220,ACK55233,ACK55246,ACK55259,ACK55272,ACK55298,ACK55311,ACK55324,ACK55337,ACK55350,ACK55363,ACK55376,ACK55389,ACK55402,ACK55415,ACK55428,ACK55441,ACK55454,ACK55467,ACK55480,ACK55493,ACK55506,ACK55519,ACK55532,ACK55545,ACK55571,ACK55584,ACK55597,ACK55610,ACK55623,ACK55636,ACK55649,ACK55662,ACK55675,ACK55688,ACK55701,ACK55714,ACK55727,ACK55740,ACK55753,ACK55766,ACK55779,ACK55792,ACK55805,ACK55896,ACK76877,ACK76890,ACK76903,ACK76916,ACK76929,ACK76942,ACK76955,ACK76968,ACK76981,ACK76994,ACK77007,ACK77020,ACK77033,ACK77046,ACK77059,ACK77072,ACK77085,ACK77098 MTND6 NADH dehydrogenase subunit 6|NADH dehydrogenase, subunit 6 (complex I) protein-coding 1350343 MT-RNR1 mitochondrially encoded 12S RNA 1347305 MT-RNR2 mitochondrially encoded 16S RNA 1346234 MT-TA mitochondrially encoded tRNA alanine 1350292 MT-TC mitochondrially encoded tRNA cysteine 1353650 MT-TD mitochondrially encoded tRNA aspartic acid 1343599 MT-TE mitochondrially encoded tRNA glutamic acid 1346568 MT-TF mitochondrially encoded tRNA phenylalanine 1346891 MT-TG mitochondrially encoded tRNA glycine 1350503 MT-TH mitochondrially encoded tRNA histidine 1344906 MT-TI mitochondrially encoded tRNA isoleucine 1349819 MT-TK mitochondrially encoded tRNA lysine 2112427,2124116 1353707 MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) 1344944 MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) 1350636 MT-TM mitochondrially encoded tRNA methionine 1343329 MT-TN mitochondrially encoded tRNA asparagine 1347007 MT-TP mitochondrially encoded tRNA proline 1351977 MT-TQ mitochondrially encoded tRNA glutamine 1343129 MT-TR mitochondrially encoded tRNA arginine 1347226 MT-TS1 mitochondrially encoded tRNA serine 1 (UCN) 1344420 MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) 1351359 MT-TT mitochondrially encoded tRNA threonine 1350675 MT-TV mitochondrially encoded tRNA valine 1354011 MT-TW mitochondrially encoded tRNA tryptophan 1348937 MT-TY mitochondrially encoded tRNA tyrosine 737231 MT1A metallothionein 1A 1580863 19515364,19359654,18601746,18533113,18429853,18349110,18316168,18249147,18208603,17388808,17373731,17111383,17008879,16955215,16107899,16087360,15812196,15489334,14528913,12970870,12539042,12477932,12361735,11939525,11284736,11168427,10884303,10774930,10754528,10574972,10099782,9614853,9566988,7543551,7140998,6327055,6089206,4062903,3856101,2304897,2303255,19529947,19962295,20038220,20634891 4489 NM_005946,AC026461,K01383,AF348995,AY028617,BC029475,HI573922 NP_005937,AAA59586,AAO32955,AAK26162,AAH29475,P04731,Q8TE66,ABM83485,ABM86699,CBX47450 Hs.655199 MGC32848|MT1|MT1S|MTC MT-1A|MT-IA|metallothionein|metallothionein 1A (functional)|metallothionein 1S|metallothionein-1A|metallothionein-IA protein-coding 1352993 MT1B metallothionein 1B 1580863 17244347,15747776,15489334,12539042,12477932,6089206,3785191,2286373 4490 NM_005947,AC026461,AF350250,CH471092,M13484,M13485,AF349000,AY168638,BC069421,BC137478,BC137479 NP_005938,AAO49186,EAW82880,AAA36331,AAO32960,AAN86984,AAH69421,AAI37479,AAI37480,P07438,Q86YX0,ACE87505,ACE86819 Hs.656629 MT1|MT1Q|MTP MT-1B|MT-IB|metallothionein 1B (functional)|metallothionein 1Q|metallothionein 1b (functional)|metallothionein-1B|metallothionein-IB protein-coding 1345275 MT1CP metallothionein 1C (pseudogene) 6327055,6089206,3785191,2286373 441771 NG_005880,AC026461 pseudo 1342688 MT1DP metallothionein 1D (pseudogene) 12477932,11329013,6327055,6089206,3856101,3785191,2286373,12539042 326343 NR_003658,NR_027781,AC026461,CH471092,AF348999,BC130317,BG181336,BC130315 EAW82877,EAW82878,AAO32959,A1L3X4 Hs.679600 MTM pseudo 1351881 MT1E metallothionein 1E 1580863 19420986,18724390,18349110,17244347,15747776,15489334,12477932,11693492,12539042,11133866,11053642,10774930,8119276,7932184,6095291,6089206,3856101,2581970,2286373,17207965,14555400,12556398,20551211,20848733 4493 NM_175617,AC026461,CH471092,M10350,M10942,AF495759,BC009699,BC062734,BC131609,S68949 NP_783316,EAW82872,EAW82873,EAW82874,AAA59587,AAM15968,AAH09699,AAH62734,AAI31610,AAB30082,P04732,Q8TD51,ADQ33219 Hs.534330 MT1|MTD MT-1E|MT-IE|metallothionein 1E (functional)|metallothionein 1e (functional)|metallothionein D|metallothionein-1E|metallothionein-IE protein-coding 1349010 MT1F metallothionein 1F 1580863 18391951,15862967,15489334,15369632,12539042,12477932,11693492,11291768,11168427,10774930,9831543,8619255,7762008,6095291,6089206,3403543,3023827,2444457,2286373,2581970,19251948 4494 NM_005949,AC026461,CH471092,CS185532,M10351,M10943,M13003,BC029453,BQ939879,HB877768,HC935177 NP_005940,EAW82881,CAJ42713,AAA59588,AAA36213,AAH29453,P04733,ABM84012,ABM87356,ABM87377,CBF63211,CBU88087 Hs.513626 MGC32732|MT1 MT-1F|MT-IF|metallothionein 1F (functional)|metallothionein 1f (functional)|metallothionein-1F|metallothionein-IF protein-coding 1345638 MT1G metallothionein 1G 1580863 20551211,12970870,19137073,18639284,15862967,15747776,15735762,15489334,12640681,12539042,12477932,8119276,6089206,3403543,3023827,2444457,2286373,12646258,19491193,19506903,19639168,20032811 4495 NM_005950,AC026461,CH471092,J03910,K03473,BC005311,BC020757,BC035287,S68954 NP_005941,EAW82882,EAW82883,AAA59873,AAH20757,AAB30083,P13640,ABM92157,ABW03278 Hs.433391 MGC12386|MT1|MT1K MT-1G|MT-1K|MT-IG|metallothionein 1K|metallothionein-1G|metallothionein-1K|metallothionein-IG protein-coding 1343880 MT1H metallothionein 1H 1580863 20551211,11053642,10774930,8619255,8119276,8049263,2286373,1425708,12646258,14668352,15747776,15489334,12970870,12539042,12477932,12081484,11093034 4496 NM_005951,AC026461,CH471092,X64834,BC008408,BC059780,BC146930,BC146934,BT007171,S68948,X64177 NP_005942,EAW82884,CAA46046,AAH08408,AAH59780,AAI46931,AAI46935,AAP35835,AAB30081,CAA45516,P80294,ABM84013,ABM87358 Hs.438462 MGC70702|MT1 MT-0|MT-1H|MT-IH|metallothionein-0|metallothionein-1H|metallothionein-IH protein-coding 1352540 MT1IP metallothionein 1I (pseudogene) 8049263,6089206,2286373 644314 NR_003669,AC026461,AF348997 AAO32957,Q86YX3 Hs.434199 MT1|MT1I|MTE pseudo 1350386 MT1JP metallothionein 1J (pseudogene) 1580863 16249430,12477932,8049263,2581970,2286373 4498 M11399,M11400,M11401,AF348994,BC103839,NR_036677,AC026461,AF350249 AAO32954,Q86YX6 Hs.513626 MT1|MT1J|MT1NP|MTB metallothionein 1j pseudo 1345185 MT1L metallothionein 1L (gene/pseudogene) 1580863 16395595,15747776,12477932,9074634,8766831,8049263,2286373 4500 AC026461,AJ011772,BC070351,BG747999,X97261,NR_001447 CAA65916,Q86YX2 Hs.647358 MT1|MT1R|MTF metallothionein 1l pseudo 1605723 MT1M metallothionein 1M 17244347,15489334,12539042,12477932,10774930,10575295,8049263,2286373 4499 AC026461,NM_176870,AF348671,CH471092,AF136177,BC028280,BC103841,BM918307,AF479613 NP_789846,AAL83902,EAW82875,EAW82876,AAP97267,AAL85413,AAH28280,AAI03842,Q8N339,Q8TDC4,ABM85681 Hs.647370,Hs.656629 MGC118949|MGC40498|MT-1M|MT-IM|MT1|MT1K metallothionein 1K|metallothionein 1Y|metallothionein-1M|metallothionein-IM protein-coding 1346190 MT1NP metallothionein 1N, pseudogene 81837 1342869 MT1P1 metallothionein 1 pseudogene 1 493987 NG_005527,AL161729 bA435O5.3 pseudo 1604411 MT1P2 metallothionein 1 pseudogene 2 12477932 645745 NG_007037,AL359259,AF333388,BC133030,BC133032 AAK18278 Hs.632513 pseudo 1353097 MT1P3 metallothionein 1 pseudogene 3 15489334,12477932,11780052,6089206,6719135 140851 NG_005652,AL121753,BC103840,BC133653 Hs.720177 C20orf127|MGC118948|MTL4|dJ614O4.6 chromosome 20 open reading frame 127 pseudo 1351340 MT1Q metallothionein 1Q 81836 1352167 MT1S metallothionein 1S 81835 AY028617 1349525 MT1X metallothionein 1X 1580863 20551211,19817957,19881214,9074634,16381901,15489336,15489334,14718574,12539042,12477932,11693492,11168427,11076863,10774930,10754528,10575295,9831543,8619255,8119276,8049263,2286373 4501 NM_005952,AC026461,CH471092,CS185582,X65607,BC018190,BC029916,BC032131,BC032338,BC053882,CD101947,S68956,X76717 NP_005943,EAW82885,EAW82886,CAJ42763,CAA46557,AAH18190,AAH32131,AAH32338,AAB30084,CAA54136,P80297,Q6PIN3,Q8WVB5,CAL37952,ABM92155,ABM84626 Hs.374950 MT-1l|MT1 MT-1X|MT-IX|metallothionein-1X|metallothionein-IX protein-coding 1352146 MT2A metallothionein 2A 1580863 16099106,19572214,19881214,20038220,20303360,12970870,14550308,15541360,6719135,19515364,19433272,19097988,19062161,18996371,18601746,18349110,18208603,17914565,17622311,17244347,17224279,16927099,16916647,16546755,16518702,16402917,16341674,16243847,16215939,16166738,16087360,15862967,15747776,15489334,15041247,14530512,12714254,12646258,12539042,12477932,12192109,12153718,10766190,10754528,10716985,10567918,8766831,7133118,6896577,6323998,3821726,2780570,2388267,1633872,1593628,1339282,913597,16501887,20711450,19913121,20628086,20646067,20711930 4502 NM_005953,AC026461,CH471092,DQ370420,J00271,M15244,X00504,BC007034,BC070289,BM746626,BT007315,CR621046,CR625648,M26637,S52379,V00594,X97260,HI574296 NP_005944,EAW82869,EAW82870,ABC79300,AAA59583,CAA25196,AAH07034,AAH70289,AAP35979,AAA59584,AAB24908,CAA23841,CAA65915,P02795,ACE87146,ACE86465,CBX47637 Hs.647371 MT2 MT-2|MT-II|metallothionein-2|metallothionein-2A|metallothionein-II protein-coding 1349146 MT2P1 metallothionein 2 pseudogene 1 (processed) 7133118 4503 AC074378,J00272,NG_001158 pseudo 730879 MT3 metallothionein 3 1580863 12383939,8751715,1873033,12763630,18029348,18782281,18757100,18554677,18533104,18295594,18208603,18206644,18182399,17712581,16945328,16546755,16351731,16087360,16036436,15489334,15190073,12539042,12538345,12477932,12187490,12111700,12072966,12067712,12058024,11994011,11849386,11226237,10517878,9655243,8039715,7677777,2071148,1631128,1464312,16712791,16336778,19425569,19490120,19536566,19578815,19881214,20646067 4504 NM_005954,AC026461,CH471092,DQ297144,M93311,S72043,BC013081,BC035624,BC047694,BI752092,BI820409,BT007030,CB155600,D13365,X89604 NP_005945,EAW82866,EAW82867,EAW82868,ABB84467,AAA36214,AAB31396,AAH13081,AAP35677,CAA61763,P25713,ABM82678,ABM85859 Hs.73133 GIF|GIFB|GRIF MT-3|MT-III|growth inhibitory factor|metallothionein 3 (growth inhibitory factor (neurotrophic))|metallothionein-3|metallothionein-III protein-coding 1343695 MT4 metallothionein 4 1580863 15489334,12539042,12477932,8003488,20634891,19515364,19921116 84560 NM_032935,AC026461,CH471092,U07807,BC113442,BC113444 NP_116324,EAW82865,AAA20232,AAI13443,AAI13445,P47944,ADR82778 Hs.567624 MT-4|MT-IV|MTIV metallothionein IV|metallothionein iv|metallothionein-4|metallothionein-IV protein-coding 1344281 MT7SDNA mitochondrially encoded 7S DNA 4505 731516 MTA1 metastasis associated 1 This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. [provided by RefSeq] 729186,728998,1580863 20427275,8083195,18029348,19366061,18769059,18719363,18640824,18362831,18306220,18196870,17922035,17922032,17868030,17666527,17081983,16969516,16964243,16855396,16831056,16807247,16617102,16502042,16244788,16172399,16169070,15489334,15456747,15302935,15254226,15095300,15077195,14871807,14760703,14735193,12920132,12684630,12639951,12527756,12493763,12477932,12431981,12167865,11948399,11804687,11483358,11474200,11146623,10967548,10840944,10444591,9885572,7607577,10545197,20651739,20619094,15978591,16511565,19363681,19377441,19403384,19584269,19805145,20022949,20071335,20185820,20547755,12650603,19394292,19454010,20697987,20661085 729186,728998 9112 AL928654,NM_004689,CH471061,AB209348,AF508978,AW732089,BC006177,BC009443,BC142941,BE139515,BX248755,BX248776,DN997955,U35113 NP_004680,EAW81918,EAW81919,EAW81920,EAW81921,EAW81922,EAW81923,BAD92585,AAN01613,AAH06177,AAH09443,AAI42942,CAD66562,CAD66583,AAA78935,Q13330,Q59FW1,Q86SW2,Q86TR6,Q9BRL8 Hs.525629 OTTHUMP00000197217|OTTHUMP00000197219|OTTHUMP00000197222|metastasis associated gene 1 protein|metastasis associated protein|metastasis-associated protein MTA1 protein-coding 1315535 MTA2 metastasis associated 1 family, member 2 This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacteylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq] 1580863 17643375,19644445,19702911,15489334,15456747,15016378,14645126,12920132,12705869,12493763,12477932,12374985,12124384,11331609,11297506,11102443,11099047,10471500,9929979,9885572,9804427,9790534,12354758,11171972,10545197,11756549,11062478,10444591,18029348,17081983,16645043,19321449,20562859,19686092,19759913,20211142,20704817 9219 NM_004739,AB012922,AP001458,CH471076,AB016591,AF295807,AK301569,BC023656,BC053650,CR601321,CR749481 NP_004730,BAA36562,EAW74031,EAW74032,BAA36707,AAG02241,BAG63063,AAH23656,AAH53650,CAH18309,O94776,Q68DB1 Hs.173043 DKFZp686F2281|MTA1L1|PID MTA1-L1 protein|metastasis -associated gene 1-like 1|metastasis associated gene family, member 2|metastasis-associated 1-like 1|metastasis-associated protein 2|metastasis-associated protein MTA2|p53 target protein in deacetylase complex protein-coding 1315624 MTA3 metastasis associated 1 family, member 3 1580863 19363681,16502042,15489334,15454082,15358836,15169784,14702039,14613024,12920132,12705869,12477932,11483358,11181995,10574462,10471500,17050676 57504 NM_020744,AC025750,AC074375,AC093386,AC098824,CH471053,AB033092,AF086450,AK027304,AK122690,AK127245,AL161954,BC004227,BC053631,CR597627,CR598284,CR611589,CR612595,CR619018,CR621276 NP_065795,AAY24040,AAY24110,AAY14699,EAX00313,EAX00314,EAX00315,EAX00316,EAX00317,BAA86580,BAB55028,CAB82305,AAH04227,AAH53631,Q53QZ9,Q53RX8,Q53SC0,Q9BTC8 Hs.435413 KIAA1266 OTTHUMP00000197384|OTTHUMP00000197386|OTTHUMP00000197387|OTTHUMP00000197388|OTTHUMP00000197391|OTTHUMP00000202136|metastasis associated family, member 3|metastasis associated gene family, member 3|metastasis-associated protein MTA3 protein-coding 1320830 MTAP methylthioadenosine phosphorylase This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq] 1580863,2317952,2317953,2317954 19578364,19578365,19665068,19887491,20081810,20302706,8687427,19001417,19427650,19272367,18555557,18237276,16631464,16618910,16081515,15832197,15662124,15534104,15511635,15492751,15489334,15302935,14506228,12875987,12477932,12438261,11985785,11566337,11126361,10404592,8650244,7604019,6425836,12826659,16778103,20574843,20647408 2317952,2317953,2317954 4507 NM_002451,AL359922,CH471071,AB062485,AF109294,AF216650,AK024734,AK300592,AK309365,AY712791,BC012316,BC018625,BC026106,BG576334,BM994282,BQ220538,BQ232183,CA440131,CR541670,CR541710,L40432,U22233 NP_002442,CAI16481,EAW58605,EAW58606,BAB93510,AAD19641,AAF82688,BAG62290,AAU04442,AAH12316,AAH18625,AAH26106,CAG46471,CAG46511,AAG38871,AAA81646,Q05DJ2,Q13126,Q6FHP1,Q6FHT1,Q8NI75,Q8WV80,Q9NRK7 Hs.193268 MSAP|c86fus 5'-methylthioadenosine phosphorylase|MTA phosphorylase|MTAPase|MeSAdo phosphorylase|S-methyl-5'-thioadenosine phosphorylase protein-coding 1345545 MTATT mitochondrially encoded membrane attachment site 4510 1354048 MTBP Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 15632057,14702039,12477932,11060448,10906133 27085 NM_022045,AC105142,AC107877,CH471060,AK022122,AK300762,AL832671,BC013136 NP_071328,EAW92006,EAW92007,BAB13965,BAG62427,AAH13136,Q96DY7,ABW03745,ABW03419 Hs.657656 MDM2BP MDM2 (mouse double minute 2)-binding protein, 104kD|hMTBP|mdm2-binding protein protein-coding 1319508 MTCH1 mitochondrial carrier homolog 1 (C. elegans) 1580863 20379614,10551805,12377771,18291114,17670888,15489334,14702039,14574404,12477932,10810093,9373149,8125298,12975309,20877624 23787 CQ871250,AL122034,CH471081,AF151822,AF176006,AF189289,AF192559,AK022783,AK130842,AK225628,AK303318,AK315067,AY358519,AY947344,BC000702,BC006507,BC009962,BC040659,BC110914,BC125055,BC125056,BC153873,CR591303,NM_014341,CR592619,CR592724,CR592807,CR594379,CR601627,CR602035,CR603921,CR605558,CR606276,CR606325,CR611138,CR614276,CR614769,CR615322,CR615412,CR616101,CR616162,CR617013,CR621124,CR623829,CR626814,CR591948 CAH56806,NP_055156,CAI23303,CAI23304,CAI23305,CAI23306,EAX03925,EAX03926,EAX03927,EAX03928,EAX03929,EAX03930,EAX03931,AAD34059,AAD52644,AAF07936,AAF12793,BAG51115,BAG64387,BAG37540,AAQ88883,AAY57875,AAH00702,AAH06507,AAH09962,AAH40659,AAI10915,AAI25057,AAI53874,Q8IW90,Q9NZJ7,Q9Y374 Hs.485262 CGI-64|MGC131998|PIG60|PSAP OTTHUMP00000215719|cell proliferation-inducing protein 60|mitochondrial carrier homolog 1|presenilin-associated protein protein-coding 1317645 MTCH2 mitochondrial carrier homolog 2 (C. elegans) 1580863 15604093,19692490,19746409,19812171,19851340,19910641,19910938,20215397,20386550,19164386,19079261,15899861,15489334,12477932,12407445,20935630,11042152,9373149,8125298,20712903,20724581,20725061,20816152,20816195,20877624,20571754 23788 NM_014342,AC104942,CH471064,CQ871294,AF085361,AF176008,AK223097,AK295218,AK313032,AY380792,BC000875,CR592236,CR606794,CR618611,CR618818,CR619866,CR625977,DB482853,CS488907 NP_055157,EAW67892,CAH56828,AAD40196,AAD52646,BAD96817,BAG58212,BAG35865,AAQ88168,AAH00875,Q53G34,Q9Y6C9,ABM82736,ABM85919,CAM55981 Hs.269944 HSPC032|MIMP 2310034D24Rik|met-induced mitochondrial protein|mitochondrial carrier 2|mitochondrial carrier homolog 2 protein-coding 1348021 MTCO1P1 cytochrome c oxidase pseudogene 1 56167,56167 CR381670,NG_027865 pseudo 1346787 MTCO1P2 MTCO1 pseudogene 2 326603 NG_002593,AL132988 cytochrome c oxidase pseudogene 2 pseudo 1347360 MTCO2L MTCO2 like 140909 NG_001007,AL121918 MTCO2L|dJ342K12.1 cytochrome c oxidase ii-like pseudo 1352145 MTCO3P1 cytochrome c oxidase III pseudogene 1 404026,404026 AL662789,NG_027900 U92032.1 pseudo 1343111 MTCP1 mature T-cell proliferation 1 This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq] 1580863 19064571,11707444,11076863,10959629,9691281,9520380,9518463,9315101,8634440,8247530,8152252,1303175,10983986,8361760,17136114,16381901,16189514,15489336,15489334,12477932 4515 NM_001018025,NG_005114,BX470111,CH471172,Z24458,Z24459,AA744518,AW976554,CR600926 NP_001018025,CAI41656,EAW72640,EAW72641,EAW72642,CAA80828,P56278 Hs.6917 P13MTCP1|p8MTCP1 MTCP-1 type B1|mature T-cell proliferation 1 isoform p13|mature T-cell proliferation-1 type B1|protein p13 MTCP-1 protein-coding 2308876 MTCP1NB mature T-cell proliferation 1 neighbor This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria. 8361760,16381901,15489336,15489334,12477932,11181995,11076863,9405159,7970717,7784073,1303175 100272147 NM_001018024,NG_005114,BX470111,CH471172,Z24459,BC002600,BT006749,CR604905,CR613140,X64644 NP_001018024,CAI41657,EAW72639,CAA80829,AAH02600,AAP35395,P56277,CAL38333 Hs.6917 C6.1B|MGC2069|MTCP1|p8|p8MTCP1 MTCP-1 type A|mature T-cell proliferation 1 neighbor protein|mature T-cell proliferation 1, isoform p8|mature T-cell proliferation-1 type A|protein p8 MTCP-1 protein-coding 1354317 MTCSB1 mitochondrially encoded conserved sequence block I 4516 1354145 MTCSB2 mitochondrially encoded conserved sequence block II 4517 1344046 MTCSB3 mitochondrially encoded conserved sequence block III 4518 4110020 MTCYBP1 MTCYB pseudogene 1 9847074 100499418 AC025731,NG_023458 pseudo 735692 MTDH metadherin 16452207,18316612,18440304,15927426,19448665,19383828,19304953,19221438,19111877,18519759,18029348,17704808,17563745,17397930,17088530,17081983,15489334,15383321,15093543,14980505,14702039,12477932,11823860,20236756,20802479,19615732,19633686,19648967,19740331,19940250,20053777,20388776,20388796,20952513,20625905,20845990 92140 NM_178812,AP002982,AP003114,AP003357,CH471060,AF411226,AF501310,AK000745,AK123083,AK308030,AY082966,AY974040,BC001815,BC009324,BC014977,BC022825,BC023994,BC045642,CR590400,CR606229 NP_848927,EAW91760,EAW91761,EAW91762,AAO65771,AAP30791,AAL92861,AAX84832,AAH09324,AAH14977,AAH45642,Q86UE4 Hs.377155 3D3|AEG-1|AEG1|LYRIC|LYRIC/3D3 3D3/LYRIC|astrocyte elevated gene-1 protein|lysine-rich CEACAM1 co-isolated protein|metastasis adhesion protein|protein LYRIC protein-coding 736231 MTERF mitochondrial transcription termination factor This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq] 15087485,14744862,12853948,12690205,12477932,9847074,9373149,8125298,7681833,20543826,9118945,18063578,17884915,15899902,15489334,20877624,20846394,16336784,19681768,20379614,20550934 7978 NM_006980,AC003086,CH236949,CH471091,AK222730,AK298469,AK313641,AL832861,BC000965,BC108648,BC130389,BC130391,CR596059,CR608572,Y09615 NP_008911,AAB83941,EAL24159,EAW76869,BAD96450,BAG60681,BAG36399,AAH00965,AAI08649,AAI30390,AAI30392,CAA70830,Q99551,ABM85067,ADR83157 Hs.532216 MGC131634 OTTHUMP00000209146|mitochondrial transcription termination factor 1|transcription termination factor, mitochondrial protein-coding 1603051 MTERFD1 MTERF domain containing 1 14702039,18029348,15489334,12477932,10810093,17207965,20877624,17662942 51001 NM_015942,AP003465,CH471060,AF132946,AK001801,AK309002,BC012995,CR590927,CR595557,CR609730,CR610912 NP_057026,EAW91750,EAW91751,EAW91752,AAD27721,BAG50978,AAH12995,Q96E29,ADQ32770 Hs.308613 CGI-12|FLJ10939|mTERF3 mTERF domain-containing protein 1, mitochondrial|mitochondrial transcription termination factor 3 protein-coding 1602073 MTERFD2 MTERF domain containing 2 16713569,16344560,15489334,14702039,12477932 130916 NR_028049,NR_028050,NR_028051,AC005237,CH471063,AA907534,AF161359,AK025374,AK055474,AK093695,AK124444,AK126322,AK131298,AK291665,AK294192,AK296515,BC044641,BC053533,BM454834,BX648184,CD388157,CR590225,CR607675,CR613199,NM_182501,CR615652,CR617083,CR622447,DA496994,DB256263 NP_872307,EAW71234,EAW71235,AAF28919,BAF84354,BAG57508,BAG59147,AAH53533,Q7Z6M4 Hs.159556 FLJ16261|MGC61716 OTTHUMP00000200479|mTERF domain-containing protein 2 protein-coding 1604591 MTERFD3 MTERF domain containing 3 16226716,15489334,14702039,12477932,9373149,8125298,20877624,20430012 80298 NM_001033050,NM_025198,AC007541,CH471054,AK024124,AK222558,AL832827,AY008301,BC008486,BC025984,BC036066,BC050361,BC068468,CR611895 NP_001028222,NP_079474,EAW97792,EAW97793,EAW97794,BAB14834,BAD96278,CAI46173,AAG22860,AAH25984,AAH36066,Q49AM1,ABZ92132 Hs.5009 FLJ14062|mTERF2|mTERFL mTERF domain-containing protein 3, mitochondrial|mitochondrial transcription termination factor 2|mitochondrial transcription termination factor-like protein protein-coding 1319031 MTF1 metal-regulatory transcription factor 1 This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq] 1580863 19060904,19797083,19913599,19956853,20026331,3208749,19286843,19058789,19022893,18990686,17503480,16710414,16189514,15489334,15318808,14702039,14610091,12716893,12477932,11923282,11306562,11004505,10504263,9373149,8125298,8065932,15735762,12805380,20688958 4520 NM_005955,AJ251881,AL929472,CH471059,D31907,AI915521,AK125603,AK225923,AK298751,AK309584,AK314233,AL702908,BC014454,X78710 CAB71327,CAH70087,EAX07312,BAA22262,BAG60893,BAG36903,AAH14454,CAA55363,O14945,Q14872,Q9NY38,NP_005946 Hs.471991 MGC23036|MTF-1|ZRF MRE-binding transcription factor|MRE-binding transcription factor-1|metal regulatory transcription factor 1|metal-responsive transcription factor 1|transcription factor MTF-1|zinc regulatory factor protein-coding 1605093 MTF2 metal response element binding transcription factor 2 16344560,15563832,15231748,12477932,7772254,20211142,16169070,20123894 22823 NM_001164391,NM_001164392,NM_001164393,AC093577,AL117354,CH471097,AF072814,AF073293,AF086908,AJ010014,AK290318,AK302776,AK302900,BC001897,NM_007358,BC010013,BQ025793,CA417978,CR594521,CR599562,CR617361,DB173315 NP_031384,NP_001157863,NP_001157864,NP_001157865,CAI23502,CAI23503,EAW73083,EAW73084,EAW73085,AAC27618,AAC27080,AAP97138,CAA08970,BAF83007,BAG63981,BAG64073,AAH10013,Q7Z534,Q96G26,Q9Y483 Hs.31016 M96|PCL2|RP5-976O13.1|dJ976O13.2 hPCl2|metal regulatory transcription factor 2|metal response element-binding transcription factor 2|metal-response element DNA-binding protein M96|metal-response element-binding transcription factor 2|polycomb-like 2|polycomb-like protein 2|putative DNA binding protein protein-coding 1604246 MTFMT mitochondrial methionyl-tRNA formyltransferase 15489334,14702039,12477932,9614118,20877624 123263 AK301390,NM_139242,AC013553,AC103691,CH471082,AK055688,BC016630,BC033687,BQ774051,CR595154,DC295382 BAH13470,NP_640335,EAW77706,EAW77707,BAB70984,AAH16630,AAH33687,Q96DP5 Hs.531615 FMT1 methionyl-tRNA formyltransferase, mitochondrial protein-coding 1605712 MTFR1 mitochondrial fission regulator 1 This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq] 16169070,17207965,20877624,10942595,17709566,15489334,15389597,12477932,12359332,7584028,7584026 9650 NM_014637,NM_001145838,NM_001145839,AC055822,CH471068,AA015794,AK298945,AK304716,AK316202,AW157714,BC036116,BC043498,BX537854,BX647507,CR456910,CR619027,CR621667,D13634 ADQ33046,NP_055452,NP_001139310,NP_001139311,EAW86881,EAW86882,BAG61044,BAG65480,BAH14573,AAH36116,AAH43498,CAD97862,CAG33191,BAA02798,Q15390,Q7Z669 Hs.584788 CHPPR|FAM54A2|KIAA0009 chondrocyte protein with a poly-proline region|mitochondrial fission regulator 1 protein-coding 1603933 MTG1 mitochondrial GTPase 1 homolog (S. cerevisiae) 16344560,15489334,15342797,15164054,14702039,14527721,12808030,12477932,16169070,18482256,20877624 92170 NM_138384,AL161645,AL360181,AL451057,CH471211,CQ782949,AK074976,AK095872,AK125012,AK292515,AK293988,AK308997,BC000920,BC004409,BC026039,BC026725,BC035721,CR598834,CR606966,CR616914,DB136242 NP_612393,CAH70046,CAH70289,EAW61348,EAW61349,CAF86177,BAC11327,BAG54121,BAF85204,BAG57354,AAH00920,AAH04409,AAH26039,AAH35721,Q9BT17,ACE87102,ACE86427 Hs.501578 GTP|GTPBP7|RP11-108K14.2 GTP-binding protein 7 (putative)|mitochondrial GTPase 1 protein-coding 732147 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq] 1299513,1300048,1600189,1600190,1580863 18029348,19533788,19619240,19649727,19651439,19683694,19706844,19706888,19734545,19737740,19774638,19858780,19936946,19946345,20056620,20209990,20217437,20334533,20374669,20386493,20447924,20453000,20458436,3053686,17353931,3528153,19527514,19493349,19336370,19328558,19167960,19161160,19130090,19112534,19064578,19048631,19020309,19019335,18992148,18988749,18818748,18801628,18771981,18767138,18635682,18427977,18277167,18261183,18221821,17894836,17691219,17548676,17533396,17530705,17449906,17438114,17436311,17417062,17114913,17035141,16712703,16552426,16328059,16315005,16236726,16123074,15953655,15937947,15861780,15797993,15719048,15633187,15503105,15489334,15122597,14647408,14632302,12665801,12477932,12384833,12015164,10828945,9611072,9519408,3877056,3074630,2786332,2587219,2183217,21090237,20594233,19913121,20544798,20565774,20570913,20615890,20628086,20634891,20737570,20140262,20824655,20852008,20877624,20890936,21055808 1299513,1600189,1600190 4522 NM_005956,NG_012450,AL122035,CH471061,AK302747,AK309266,AK312361,BC001014,BC009806,BC050420,BQ959308,CA446032,CR601328,CR613709,CR614604,CR619741,DC368835,J04031 NP_005947,EAW80857,EAW80858,BAH13795,BAG35279,AAH01014,AAH09806,AAH50420,AAA59574,P11586,ABM84560,ABM87852 Hs.652308 MTHFC|MTHFD 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase|C-1-tetrahydrofolate synthase, cytoplasmic|C1-THF synthase|c1-tetrahydrofolate synthase|cytoplasmic C-1-tetrahydrofolate synthase protein-coding 1342984 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like One-carbon substituted forms of tetrahydrofolate (THF) are involved in the de novo synthesis of purines and thymidylate and support cellular methylation reactions through the regeneration of methionine from homocysteine. MTHFD1L is an enzyme involved in THF synthesis in mitochondria (Christensen et al., 2005 [PubMed 15611115]).[supplied by OMIM] 17353931,16171773,12937168,19336575,18978678,17634449,15611115,15068241,15013446,12477932,19019082,18029348,20738937,20877624,20885792,18804703,19373437,19615732,19777576,19955471,19913121,20628086,20694560 25902 AL035086,AL049694,AL133260,CH471051,AA478842,AB127387,AK024798,AK127089,AK310342,AK315378,AL117452,AV704883,AY374130,AY374131,BC008629,BC017477,BC110319,BC136685,BC144368,BC144369,BE735249,BQ062382,NM_015440,CS482713,HB883499,HB895224,HC940908,HC952633 Q6UB35,NP_056255,CAI42788,CAI42789,CAI42791,CAI42792,CAI42793,CAI42794,CAI42795,CAI95772,CAI95773,CAI95774,CAI95775,CAI95678,CAI95679,CAI95680,EAW47760,EAW47761,EAW47762,EAW47763,BAD93193,BAB15009,BAG37771,CAB55934,AAQ82696,AAQ82697,AAH08629,AAH17477,AAI10320,AAI36686,AAI44369,Q4VXV2,Q5JYA1,Q5JYA3,Q5JYA4,Q5JYA5,Q5JYA8,CAM36319,CBF65969,CBF74049,CBU90841,CBU96477 Hs.591343 DKFZp586G1517|FLJ21145|FTHFSDC1|MTC1THFS|RP1-292B18.2|dJ292B18.2 10-formyl-THF synthetase|formyltetrahydrofolate synthetase domain containing 1|mitochondrial C1-tetrahydrofolate synthase|mitochondrial C1-tetrahydrofolate synthetase|monofunctional C1-tetrahydrofolate synthase, mitochondrial protein-coding 1345036 MTHFD1P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1 1916813 4523 S57009,AL928898,NG_026706 FLJ31204|MTHFDL1|MTHFDP1 pseudo 1322701 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq] 1540378,1580863,2302305 8218174,19493349,19161160,19048631,18830263,18676680,16344560,15815621,15489334,12477932,9454603,9373149,8939898,8125298,2587219,17353931,20877624,15342116,16712791,20634891,19170196,19625176,19692168,20453000 1540378,2302305 10797 NM_006636,NR_027405,AC073263,CH471053,AK130664,AK222826,AK223041,AK300035,AK302245,AK313138,AU125762,BC001548,BC015062,BC017054,BX475613,CB124593,CR602884,CR620122,X16396 NP_006627,AAX93061,EAW99670,EAW99671,EAW99672,EAW99673,BAD96546,BAD96761,BAG61846,BAG63597,BAG35957,AAH01548,AAH15062,AAH17054,CAA34431,P13995,Q7Z650,ABM85605 Hs.469030 NMDMC NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase|OTTHUMP00000203020|bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial|methylene tetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase|methylene tetrahydrofolate dehydrogenase (nad+ dependent), methenyltetrahydrofolate cyclohydrolase protein-coding 1345478 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 14702039,12477932,20877624 441024 NM_001144978,AC093677,AC097470,CH471057,AI219460,AK021544,AK122799,AV720429,BC032771,BC037529,BC041943,BC065771,BG566009,BG708427,BI602959,BQ015209,CA438481 NP_001138450,AAY40953,EAX05702,EAX05703,EAX05704,EAX05705,EAX05706,EAX05707,AAH32771,AAH37529,AAH65771,Q4W5I6,Q8IY64,Q9H903 Hs.721011 FLJ13105|MGC45532|MGC72244 NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein|OTTHUMP00000211520|OTTHUMP00000211524|probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 protein-coding 733483 MTHFR 5,10-methylenetetrahydrofolate reductase (NADPH) Methylenetetrahydrofolate reductase (EC 1.5.1.20) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.[supplied by OMIM] 1580579,1580580,1580581,1580590,1601421,1535021,1580585,1580863,2317119,2317120,2317118,4891159,4891145,4891158,4891157 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1580579,1580580,1580581,1580590,1601421,1535021,1580585,2317119,2317120,2317118,4891159,4891145,4891158,4891157 4524 NG_013351,CN355286,AF105977,AF105978,AF105979,AF105980,AF105981,AF105982,AF105983,AF105984,AF105985,AF105986,AF105987,AF398930,AJ249275,AL953897,AY338232,CH471130,AB209113,AJ237672,AK312907,AY046560,AY046561,AY046562,AY046563,AY046564,AY046565,BC011614,BC018766,BC053509,NM_005957 AAA74440,AAH53509,P42898,Q59GJ6,Q5SNW5,Q5SNW6,Q5SNW7,Q8IU67,Q8IU73,Q9NY62,Q9NY63,NP_005948,AAD17965,AAN40863,AAN40864,AAN40865,CAB81551,CAB81552,CAI15885,CAI15886,CAI15887,CAI15888,CAI15889,AAP88033,EAW71708,EAW71709,BAD92350,CAB41971,BAG35753,AAL17646,AAL17647,AAL17648,AAL17649,AAL17650,AAL17651 Hs.214142 5,10-methylenetetrahydrofolate reductase (NADPH)|OTTHUMP00000002367|OTTHUMP00000002373|methylenetetrahydrofolate reductase protein-coding 1315743 MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 1580863 20570913,20634891,8522195,19048631,18830263,18522750,17891500,17119116,16189514,15489334,14702039,12764149,12477932,3801490,20877624,20967262,18029348,19161160,19738041,19936946 10588 NM_006441,AC015871,AC021483,CH471136,AK054972,AL110101,BC012417,BC019921,BC037852,CK905549,L38928,AL109717,BM313547,BM450865,CB995322,DB464304,NM_001199758,NR_037654 NP_006432,EAW99132,AAH12417,AAH19921,AAC41945,P49914,Q96EE9,NP_001186687 Hs.459049,Hs.194294 FLJ30410|HsT19268 5,10-methenyl-tetrahydrofolate synthetase|5-formyltetrahydrofolate cyclo-ligase|methenyl-THF synthetase protein-coding 1604316 MTHFSD methenyltetrahydrofolate synthetase domain containing 14702039,12477932,19913121,20628086,20308539 64779 NM_001159377,NM_001159378,NM_001159379,NM_001159380,NR_027489,NR_027490,AC009108,CH471114,AI263847,AK023060,AK023955,AK096836,AK125015,AK297726,NM_022764,BC013911,BC112057,BC112059,BC143702,BC143703,BC143704,BC143705,BC143707,CR611840 NP_073601,NP_001152849,NP_001152850,NP_001152851,NP_001152852,EAW95418,EAW95419,EAW95420,EAW95421,EAW95422,BAB14383,BAB14739,BAG53372,BAG60079,AAI12058,AAI12060,AAI43703,AAI43708,Q2M296 Hs.343627 FLJ12998|FLJ13893|MGC138262|MGC138264|MGC177233 methenyltetrahydrofolate synthase domain-containing protein|methenyltetrahydrofolate synthetase domain-containing protein protein-coding 1351631 MTHPR mitochondrially encoded replication primer 4525 1345264 MTHSP1 mitochondrially encoded major H-strand promoter 4526 1353032 MTHSP2 mitochondrially encoded minor H-strand promoter 4527 1347555 MTIF2 mitochondrial translational initiation factor 2 During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 19209188,17416734,14743216,12932832,12477932,9925935,9373149,8889548,8125298,7829522,14968112,18029348,20468071,20877624 4528 NM_001005369,AC012358,AF495546,CH471053,AF494407,AK225184,AK307993,BC002667,BC009845,BC017243,BC039848,BC054048,BC064977,BC067352,BC082973,BC143541,BU684812,CB961193,L34600,NM_002453 NP_002444,NP_001005369,AAM70196,EAX00103,EAX00104,EAX00105,AAM14617,AAH17243,AAH39848,AAH54048,AAH64977,AAA67038,P46199,Q05DA1,AAI41421,Q7Z5U0,Q6P1N2,Q8IWH1 Hs.149894 IF-2(Mt)|IF-2mt|IF2(mt)|OTTHUMP00000200773|translation initiation factor IF-2, mitochondrial protein-coding 1351566 MTIF2P1 mitochondrial translational initiation factor 2 pseudogene 1 17903296,12932832 80713 NG_002684,AL592494,AY091592 pseudo 1604201 MTIF3 mitochondrial translational initiation factor 3 17207965,20877624,20887776,20976088,12095986,19240061,19209188,17267121,14702039,12477932,15146197,16340009,16341674,17913635,18056078,19239245,20935630 219402 NM_152912,AL137059,CH471075,AF410851,AK094420,BC039599,BC046166,CR594840,AK090995,BG617536,BI460170,BM312841,BM548061,BM768315,CN272769,DB456678,DB470026,NM_001166261,NM_001166262,NM_001166263 ADQ33113,NP_690876,CAH70316,EAX08406,EAX08407,EAX08408,EAX08409,EAX08410,EAX08411,EAX08412,AAL04150,AAH39599,AAH46166,Q9H2K0,NP_001159733,NP_001159734,NP_001159735 Hs.534582 FLJ33676|IF-3mt|IF3(mt)|IF3mt IF-3(Mt)|OTTHUMP00000018168|OTTHUMP00000018169|translation initiation factor IF-3, mitochondrial protein-coding 1342574 MTL1 metallothionein-like 1 4529 1352649 MTL2 metallothionein-like 2 4530 1349197 MTL3 metallothionein-like 3 4531 1350786 MTL4 metallothionein-like 4 6719135,6089206 4532 1320315 MTL5 metallothionein-like 5, testis-specific (tesmin) Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10191092,16341674,14648882,12606435,12477932,11803038 9633 U86074,NM_004923,NM_001039656,AP003096,AP003732,CH471076,AK074817,AK128308,AK292358,AW293246,BC027593,BC054047,BC064579,BG772890,BM790577 AAD24668,Q6PHY4,Q9Y4I5,NP_004914,NP_001034745,EAW74718,EAW74719,EAW74720,BAC11228,BAF85047,AAH27593,AAH54047,AAH64579 Hs.145932 CXCDC2|MTLT|TESMIN CXC domain containing 2|tesmin|testis-specific metallothionein-like protein protein-coding 1343644 MTLSP mitochondrially encoded L-strand promoter 4533 1312103 MTM1 myotubularin 1 This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq] 1600519,1580863 20358311,19129059,20477815,20562859,11456308,11846405,12391329,14500759,18429927,18774718,19846786,20140253,20434914,9828128,8640223,19084976,18029348,17827085,17621527,17537630,16964243,15883335,15725586,14722070,14660569,12925573,12859411,12847286,12646134,12522554,12495846,12477932,12118066,12031625,11793470,11552027,11001925,10900271,10790201,10502779,10466421,10063835,9829274,9781038,9736772,9537414,9450905,9305655,9285787,1822801,1090027,15489334 1600519 4534 NM_000252,NG_008199,AC109994,AF002223,AF020676,CH471169,AK291710,AK297021,AK297057,AK304036,AL832715,BC030779,BQ002481,CR591300,DC418907,U46024 NP_000243,AAC12865,EAW99377,EAW99378,EAW99379,EAW99380,BAF84399,BAH12477,BAH12485,BAH14097,AAH30779,AAC51682,Q13496 Hs.655056 CNM|MTMX|XLMTM myotubularin protein-coding 1315259 MTMR1 myotubularin related protein 1 This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq] 1580863 12477932,9828128,14702039,12217958,11846405,11733541,11275328,9847074,9736772,8640223,20685272,12925573 8776 AK023451,AK055513,AK226109,AK295738,BC011250,BC032947,CR621153,U58032,AK024745,NM_003828,NG_012551,AF002223,CH471169,AF057354,AJ224979,AK001816 BAH12171,AAH32947,AAC79117,Q13613,Q8NEC6,NP_003819,EAW99381,EAW99382,EAW99383,EAW99384,EAW99385,EAW99386,EAW99387,EAW99388,AAD40368,CAA12271,BAG50981 Hs.347187 myotubularin-related protein 1 protein-coding 1606536 MTMR10 myotubularin related protein 10 16381901,15489336,15231748,12495846,12477932,11230166,11076863 54893 NM_017762,AC087481,AC090829,CH471216,AA461184,AK000320,AK296926,AK303672,AL598227,AL832137,AL832603,BC050478,BC063296,BC094750,BC121171,BC121172,CR605921,CR607167,CR621765 NP_060232,EAW61258,EAW61259,BAA91083,BAG59478,BAG64669,AAI21172,AAI21173,Q0IJ45,Q0IJ46,Q9NXD2,CAL37747,AAI66657 Hs.30141 FLJ20313 myotubularin-related protein 10 protein-coding 1605703 MTMR11 myotubularin related protein 11 15231748,18391951,16344560,14702039,12495846,12477932 10903 AK097000,AK296094,AK298775,AK304691,AK304820,BC032655,BC064372,BC094756,BC100818,BC100819,BC100820,BC100821,BQ446006,DA492093,DB474756,U78556,U78557,NM_001145862,AL590487,CH471121,NM_181873 EAW53593,EAW53594,BAG53406,BAG58848,BAG60917,BAG65462,BAG65568,AAH94756,AAI00819,AAI00820,AAI00821,AAB36952,AAB36953,A4FU01,AAI66616,NP_870988,NP_001139334,CAI12649,EAW53588,EAW53589,EAW53590,EAW53591,EAW53592 Hs.425144 CRA|RP11-212K13.1 cisplatin resistance associated|cisplatin resistance-associated protein|hCRA|myotubularin-related protein 11 protein-coding 1317364 MTMR12 myotubularin related protein 12 Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq] 14702039,12847286,12495846,12477932,11504939,11214970,20379614 54545 NM_001040446,AC025181,AC091961,CH471118,AB051469,AF085901,AK000483,AK000967,AL833231,AY028703,BC057393,DB462159 NP_001035536,EAX10786,EAX10787,BAB21773,BAA91195,CAH10604,AAK26171,AAH57393,Q9C0I1 Hs.481836 3-PAP|PIP3AP 3-phosphatase adapter protein|3-phosphatase adapter subunit|myotubularin-related protein 12|phosphatidylinositol-3 phosphate 3-phosphatase adapter subunit|phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit|phosphatidylinositol-3-phosphate associated protein protein-coding 1605051 MTMR14 myotubularin related protein 14 17008356,16344560,15186772,12477932,11256614,9110174,8619474,14702039,19590496,20379614,20595810 64419 NM_001077525,NM_022485,AC022382,AC024163,CH471055,AF289603,AK026058,AK074792,AK128312,AK295891,AK298846,AL713695,AY007098,AY545552,BC001674,BC025952,BC035690,BC050626,DA604126,DQ630520,NM_001077526,AK021608,BF796406,DC316206,NG_017068 NP_001070993,Q8NCE2,Q8WYY9,ACE87573,ACE86886,NP_071930,EAW63965,EAW63966,EAW63967,EAW63968,EAW63969,AAL55787,BAB15340,BAC11211,BAG58685,BAG60971,CAD28494,AAS50151,AAH01674,AAH25952,AAH35690,AAH50626,NP_001070994,ABG02221 Hs.475382 C3orf29|FLJ11546|FLJ22405|FLJ46453|FLJ90311|HJUMPY|hEDTP HCV NS5A-transactivated protein 4 splice variant A-binding protein 1|NS5ATP4ABP1|egg-derived tyrosine phosphatase homolog|jumpy|myotubularin-related protein 14 protein-coding 1604829 MTMR15 myotubularin related protein 15 This gene encodes a member of the myotubularin-related class 1 cysteine-based protein tyrosine phosphatases. The encoded protein may be catalytically inactive. Alternatively spliced transcript variants have been described. [provided by RefSeq] 20671156,16344560,15342556,15186772,12477932,10231032,17148452,20603015,20603016,20603073 22909 NM_014967,NM_001146094,NM_001146095,NM_001146096,AC087481,CH471216,AB023235,AK290987,BC044890,BC047882,BP310263,BX647391,CR596971,CR936727,CR936734,DA841207,HM560957 NP_055782,NP_001139566,NP_001139567,NP_001139568,EAW61257,BAA76862,BAF83676,AAH47882,Q9Y2M0,ACE86680,ADK11100 Hs.584863 DKFZp451H236|DKFZp686K16147|FAN1|KIAA1018|MTMR15 coiled-coil domain-containing protein MTMR15|fanconi anemia associated nuclease 1|fanconi-associated nuclease 1|myotubularin related protein 15|myotubularin-related protein 15 protein-coding 1323545 MTMR2 myotubularin related protein 2 This gene is a member of the myotubularin family. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 12837694,15998640,9736772,17880751,16410353,16344560,15489334,15342556,14690594,12668758,12477932,12398840,11835375,10802647,10470851,8640223,11846405,12925573,17336078,18429927,18774718,19416867 8898 AK302940,AL705005,BC012086,BC034474,BC040432,BC052990,BG252116,BM475570,BP358035,BX107577,BX647997,DA220281,DA831307,DR762520,GD143864,U58033,NM_201281,NM_201278,NR_023356,NG_008333,AP000870,AP001877,CH471065,AB028996,AI360884,AK027038,AK291277,AK293243,NM_016156 BAG56777,BAG64098,AAH52990,AAC79118,Q13614,NP_057240,NP_958438,NP_958435,EAW66971,EAW66972,EAW66973,EAW66974,BAA83025,BAF83966 Hs.181326 CMT4B|CMT4B1|KIAA1073 OTTHUMP00000204447|OTTHUMP00000204448|myotubularin-related protein 2 protein-coding 1343929 MTMR3 myotubularin related protein 3 This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10733931,16787938,16344560,15840652,15461802,14702039,11846405,11676921,11302699,11181995,10591208,9847074,9736772,9205841,8889548,8640223,18774718,18029348,20059746,21102463,12477932,19915574,20477815 8897 NM_021090,NM_153050,NM_153051,AC003071,AC003681,AC004819,CH471095,U58034,AB002369,AF233436,AF233437,AF233438,AK056895,AK289581,AW014234,BC142713,BC148216,BC151217,BC152455,BI462128,BU733010,CR456525,CR608861,DA126318 NP_066576,NP_694690,NP_694691,AAB83949,AAB88872,EAW59849,EAW59850,EAW59851,EAW59852,EAW59853,EAW59854,EAW59855,EAW59856,AAC79119,BAA20826,AAF40203,AAF40204,AAF40205,BAF82270,AAI42714,AAI48217,AAI51218,AAI52456,CAG30411,Q13615,Q9UPM2,AAI41655,AAI41657,CAK54556,CAK54855 Hs.474536 FLJ32333|FYVE-DSP1|KIAA0371|ZFYVE10 FYVE (Fab1 YGLO23 Vsp27 EEA1 domain) dual-specificity protein phosphatase|FYVE domain-containing dual specificity protein phosphatase 1|OTTHUMP00000199667|OTTHUMP00000199668|OTTHUMP00000199669|myotubularin-related protein 3|zinc finger FYVE domain-containing protein 10|zinc finger, FYVE domain containing 10 protein-coding 1321134 MTMR4 myotubularin related protein 4 1580863 9736772,9734811,20736309,20061380,19329342,19125695,15231748,12477932,11302699,10888877 9110 NM_004687,AC005666,CH471109,AB014547,AF264717,AI538945,AK308877,BC035609,DR003190 NP_004678,EAW94454,EAW94455,BAA31622,AAF72539,AAH35609 Hs.514373 FYVE-DSP2|KIAA0647|ZFYVE11 myotubularin related protein 4|zinc finger, FYVE domain containing 11 protein-coding 1313370 MTMR6 myotubularin related protein 6 1580863 15831468,9736772,11256614,19038970,17081983,16847315,16381901,15489336,15489334,15057823,14702039,12890864,12847286,12646134,12477932,11230166,11076863 9107 AL590787,CH471075,AF072928,AF406619,AK025507,AK093237,AK094082,AK314587,AL044815,AL832017,BC031834,BC035436,BC040012,BU177677,NM_004685,U47635 NP_004676,CAI39897,EAX08367,AAC78841,AAL01037,BAG37162,CAD89918,AAH31834,AAH40012,AAB18856,Q8N5Q4,Q92792,Q9Y217,CAL37559,CAL37715 Hs.643702 myotubularin-related protein 6 protein-coding 1315320 MTMR7 myotubularin related protein 7 This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq] 1580863 14702039,12477932,11275328,20379614,9736772,18029348,12925573,12890864 9108 AK123201,NM_004686,AC124074,CH471080,AF073482,AK294468,AK303762,AK303803,AK316022,AK316283,AW014721,BC130577,BC130579,CR749240,DC325464 ADR83108,ADR83245,NP_004677,EAW63816,AAC77820,BAG57698,BAG64728,BAG64757,BAH14393,BAH14654,AAI30578,AAI30580,CAH18096,Q9Y216 Hs.625674 DKFZp781E194|MGC163449|MGC163451 myotubularin-related protein 7 protein-coding 1347790 MTMR8 myotubularin related protein 8 1580863 16189514,12477932,11275328,9373149,8125298,16344560 55613 NM_017677,AL034408,AL356317,CH471132,AK000133,AK225231,BC012399,CR605498,DA691850,NG_016567 NP_060147,CAI43024,CAI43025,CAI39933,CAI39934,EAX05410,EAX05411,EAX05412,EAX05413,BAA90964,AAH12399,Q96EF0 Hs.442892 FLJ20126|FLJ60798 OTTHUMP00000023431|myotubularin-related protein 8 protein-coding 735915 MTMR9 myotubularin related protein 9 This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq] 1580863 19038970,17855449,16189514,15489334,14702039,12890864,12477932,11896452,11472061,10458905,9373149,9110174,8619474,8125298,19447967,21060863,20712903 66036 NM_015458,AF131216,AJ297824,CH471157,AF052099,AJ297823,AK000444,AK022071,AK223525,AK294463,AK303543,AL080178,BC017985,BC022003,BC034990,BC093788,BC101623,BU631532,BX538176 CAB45763,NP_056273,CAC51115,EAW65607,EAW65608,EAW65609,CAC51114,BAA91170,BAD97245,BAH11777,BAG64569,AAH22003,AAH34990,AAH93788,AAI01624,Q53EW4,Q96QG7,Q9Y4N6,ABM84895,ABW03647 Hs.591395 C8orf9|DKFZp434K171|LIP-STYX|MGC126672|MTMR8 myotubularin related protein 8|myotubularin-related protein 9 protein-coding 2303676 MTMR9L myotubularin related protein 9-like 16344560,14702039,12477932 339483 NR_026850,AL121991,AI927242,AK055560,AK096109,AL833686,BC016171,BC041632,DB026894 Hs.471067 FLJ30998|MTMR9L pseudo 4110706 MTND1P1 MTND1 pseudogene 1 9847074 100499468 AC025731,NG_023506 pseudo 1346939 MTND2P1 NADH dehydrogenase 2 pseudogene 1 10830953 387315,387315 AF020802,NG_027939 pseudo 1349959 MTND2P2 MTND2 pseudogene 2 56168 NG_002320,AL590407 bA522L3.2 nadh dehydrogenase 2 pseudogene 2 pseudo 4110017 MTND2P3 MTND2 pseudogene 3 9847074 100499457 AC025731,NG_023505 pseudo 4110707 MTND6P1 MTND6 pseudogene 1 9847074 100499469 AC025731,NG_023537 pseudo 1352571 MTNR1A melatonin receptor 1A This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq] 1580863 16778767,17215244,18979234,20050373,20110911,20377855,9645677,7946354,8700109,19184136,19001515,18794763,18452558,18378672,18341518,18067741,17803522,17645699,17349020,17072839,16098099,15489334,15266022,14675129,12973153,12767050,12477932,12088876,11940583,11897804,11841602,11606436,11448873,10612428,10598579,10471411,8988899,7558006,1144527,18577758,20372918,2834384,19913121,20628086,20657642,20726823 4543 AB029933,AC110761,AF085498,CH471056,AF435588,BC074946,BC074947,BC113816,BC126297,BC126299,EU432127,U14108,NM_005958 NP_005949,BAA85303,EAX04617,AAL30809,AAH74946,AAH74947,AAI13817,AAI26298,AAI26300,ABY87926,AAB17720,P48039,Q29RX9,Q8WZ72,ADR83132 Hs.243467 MEL-1A-R|MT1 mel1a receptor|melatonin receptor type 1A protein-coding 736711 MTNR1B melatonin receptor 1B This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq] 1580863 16778767,17215244,19455304,19533084,19651812,19741166,19808892,19833888,19933996,19937311,20050988,20081858,20110911,20185807,20200315,20207350,20377855,20398260,20490451,20536959,7568007,19502414,19324940,19324937,19241057,19184136,19088850,19060910,19060909,19060908,19060907,19001515,18544139,18363673,18341518,18001530,17632395,17316165,17108395,16098099,15913560,15489334,15266022,12767050,12477932,12088876,11940583,11606436,10696804,10612428,8988899,8647286,20733416,18577758,20597807,20581827,20628598,20657642,20668700,20726823,20802253,20712903,20858683,20879858,20889853,20959387,21036910,21059861 4544 NM_005959,AB033598,AP002371,AP003171,CH471065,AF467654,AY521019,BC069163,U25341 NP_005950,BAA92315,EAW66891,AAL75503,AAS00461,AAH69163,AAC50612,P49286,Q8TEV7 Hs.569039 FGQTL2|MEL-1B-R|MT2 mel1b receptor|melatonin receptor MEL1B|melatonin receptor type 1B protein-coding 1318828 MTO1 mitochondrial translation optimization 1 homolog (S. cerevisiae) This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19338775,19209188,18391568,15901843,15542390,15509579,15489334,14574404,12939650,12477932,12011058,10810093,9373149,8125298,20877624 25821 AF132937,AF319422,AF469110,AF469111,AJ420530,AK026073,AK074625,AK225828,AL833823,AY078985,AY078986,AY947716,BC005808,BC011051,CQ783513,NM_133645,NM_001123226,NM_012123,AF442963,AL603910,CH471051,BE501391,CR605187,CR616760,DN993156 CAF86693,AAD27712,AAG42814,AAL82394,AAL82395,CAD38685,AAL85490,AAL85491,AAY51628,AAH05808,AAH11051,BAG51977,NP_598400,NP_001116698,NP_036255,AAL35894,CAI14880,CAI14881,CAI14882,EAW48760,EAW48761,EAW48762,EAW48763,EAW48764,EAW48765,EAW48766,EAW48767,EAW48768,Q4G1Y7,Q9Y2Z2 Hs.347614 CGI-02 OTTHUMP00000063806|homolog of yeast Mto1|mitochondrial MTO1-3|protein MTO1 homolog, mitochondrial protein-coding 1348078 MTOHR mitochondrially encoded heavy strand origin of replication 4545 1343060 MTOLR mitochondrially encoded light strand origin of replication 4546 68533 MTOR mechanistic target of rapamycin (serine/threonine kinase) The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq] 2308795,2307383,1625616,1582609,1625611,1580863 11279232,12408816,16098514,16221682,17277771,18339839,18776922,18794342,18807177,18926585,18948269,19145465,19147966,19176054,19211835,19341427,19373664,19487463,19505958,19509151,19535348,19539012,19553685,19553815,19561084,19564927,19587219,19608873,19619545,19624311,19648884,19654299,19657638,19679016,19680556,19690328,19698731,19724909,19725049,19726679,19739122,19757306,19771169,19788500,19789507,19789631,19794149,19797172,19838215,19864431,19875696,19881535,19889638,19914247,19935716,19935854,19955088,19956179,19956839,19956876,19956903,19966861,20005306,20009539,20019839,20022946,20030877,20048174,20080789,20081105,20093977,20145209,20153512,20157617,20160076,20166697,20166753,20176935,20190810,20204306,20227368,20232298,20232305,20233713,20236941,20299603,20308064,20338997,20354165,20354178,20375166,20379614,20381137,20388784,20412774,20424326,20447721,20453000,20488790,12242281,19815051,20038818,20360610,20479250,20542007,20395440,20606252,20607654,20805416,19489223,20628002,21035469,21048031,19371356,20053679,20459645,19949304,20061787,20338061,19301157,20801936,20861467,21033251,19203829,19203585,19201859,19176689,19176518,19164214,19155728,19147772,19147764,19147678,19121088,19108833,19107873,19107520,19098000,19090006,19078992,19074768,19054297,19020730,19020722,19019920,18990449,18980674,18953439,18945681,18929564,18924132,18848473,18842593,18826385,18824293,18813808,18787170,18769147,18769127,18757300,18725988,18715846,18704194,18702307,18697743,18678646,18660489,18658153,18652687,18650380,18622747,18612547,18596736,18570873,18563337,18548093,18519641,18511708,18494264,18483275,18434090,18426977,18423201,18413763,18395956,18372248,18351386,18348264,18339899,18337562,18292222,18276609,18250445,18247380,18215133,18056791,18048359,18006825,17996122,17993259,17991864,17990907,17942603,17935273,17928295,17914450,17911267,17889116,17726467,17724079,17721885,17698027,17693255,17683115,17656678,17640392,17631500,17616691,17616684,17604271,17595159,17565979,17562865,17562705,17553806,17545512,17488873,17483438,17482291,17470430,17463046,17461779,17409838,17372934,17363738,17351147,17329620,17329400,17318075,17289850,17253963,17215282,17148679,17114181,17110454,17102641,17075574,17052453,17028174,17018601,17016437,16963469,16962653,16959214,16954686,16929481,16927414,16916907,16914728,16912980,16912159,16884363,16874098,16870609,16849522,16847060,16824195,16818690,16786123,16710414,16652388,16543150,16467080,16427044,16407298,16354680,16341243,16286006,16282343,16242075,16183647,16141350,16109716,16099944,16098202,16049009,16027121,16006564,15953364,15905173,15899889,15878852,15854902,15843522,15802268,15723049,15708965,15702344,15659381,15657358,15632201,15632115,15624760,15623621,15605414,15604215,15584862,15580312,15576463,15522880,15496972,15489897,15489334,15452223,15388791,15342556,15317677,15292274,15268862,15218033,15150271,15056668,15028555,15004009,15001544,14970221,14729629,14668532,14578359,12912989,12820960,12813467,12807916,12718876,12665511,12604610,12558800,12477932,12370290,12271141,11853878,15718470,15467718,18497260,15539461,18925875,15755954,15809305,19553991,19454477,19446321,19416884,19414743,19402821,19357233,19331815,19321861,19299575,19293424,19285014,19258318,19244117,19240722,19234517,19225536,19225151,19223902,19223493,19222999,12231510,12172553,12150926,12150925,12145207,12105188,12080086,12030785,12000755,11967149,11930000,11914378,11884412,11777913,11733037,11729323,11691993,11691836,11438723,11426320,11114166,10942774,10910062,10779345,10702316,10664457,10364159,10325225,10089303,9653645,9465032,9434772,9405468,9099849,9092573,8662507,8660990,8083223,8008069,7809080,7539137,11602639,12796477,16452250,16631613,17043309,16919458,16603397,15066126,12719976,16837165,16798736,15459249,12747827,16541103,10660304,16922504,15896331,14679009,10971657,10567431,16915281,15772076,10698949,10200280,11287630,17360675,15796538,15284440,7822316,15767663,10753870,20335217,20372862,20375271,20410302,20424163,20439490,19897009,20070283,20622004,20679884,20182617,20460933,20480226,21170086,18831768,19018001,20226010,20438709,20150565,20543138,20542987,20809949,20837708,19615795,20427710,20459775,20368287,20386866,20427287,20537536,20562859,20805015,20855840,20133820,20339946,20517583,20668229,20811722,20811725,20864032,21095582 2308795,2307383,1625616,1582609,1625611 2475 AF152840,AJ300188,AL049653,AL109811,AL359082,AL391561,CH471130,AA725390,AB209995,AK126762,AK302863,AK304273,BC117166,BP250183,DC403129,L34075,L35478,U88966,NM_004958 AAC39933,NP_004949,CAC15570,CAI22145,CAI22101,CAI22105,CAI22108,CAC42395,CAI17227,CAI17228,EAW71681,EAW71682,EAW71683,BAE06077,BAG54371,BAG64047,BAG65134,AAI17167,AAA58486,AAC41713,P42345,Q96QW8 Hs.338207 FLJ44809|FRAP|FRAP1|FRAP2|RAFT1|RAPT1 FK506 binding protein 12-rapamycin associated protein 1|FK506 binding protein 12-rapamycin associated protein 2|FK506-binding protein 12-rapamycin complex-associated protein 1|FKBP-rapamycin associated protein|FKBP12-rapamycin complex-associated protein 1|mammalian target of rapamycin|rapamycin and FKBP12 target 1|rapamycin associated protein FRAP2|rapamycin target protein 1|serine/threonine-protein kinase mTOR 1643585 SGHRL1_H protein-coding 1604816 MTP18 mitochondrial protein 18 kDa MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM] 8889548,20877624,15985469,18660489,15998911,15790807,15489334,15461802,15155745,12477932,11042152,10591208,9847074,16712791,19578796,19878569 51537 NM_016498,NM_001003704,AC004832,CH471095,CS185601,AF060924,AF151076,AK026104,AY927431,BC001608,BC009300,BC014446,BC030989,BC038831,BC046132,BQ187590,CB142469,CR456345,CR600583,CR607289,CR621724 NP_057582,NP_001003704,AAF19257,EAW59889,EAW59890,EAW59891,CAJ42782,AAG43136,AAF36162,AAH01608,AAH09300,AAH14446,AAH30989,AAH38831,AAH46132,CAG30231,Q9UDX5 Hs.335614,Hs.713636 HSPC242|MTP18 mitochondrial 18 kDa protein|mitochondrial fission protein MTP18|mitochondrial protein 18 kDa protein-coding 1322070 MTPAP mitochondrial poly(A) polymerase 737633 19204726,18984674,17509149,16344560,15769737,15547249,15489334,15164054,14702039,12477932,12239557,9373149,8125298,16385451,16810331,18172165,20379614,20970105,20877624 737633 55149 AL161651,AL353796,CH471072,AB194709,AK001348,AK022188,AK125211,AL122121,AY364242,BC061703,NM_018109,NG_028096,DA086747 NP_060579,CAI14216,CAI14217,CAI14218,CAH72262,EAW86014,EAW86015,BAD98252,BAA91641,BAB13981,CAH56395,AAQ76801,AAH61703,Q5T851,Q5T852,Q9NVV4 Hs.173946 FLJ10486|PAPD1|RP11-305E6.3|SPAX4 PAP associated domain containing 1|PAP-associated domain-containing protein 1|TUTase 1|poly(A) RNA polymerase, mitochondrial|polynucleotide adenylyltransferase|terminal uridylyltransferase 1 protein-coding 1603905 MTPN myotrophin The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq] 12031792,16982933,16381901,16344560,15489336,15489334,14702039,12853948,12690205,12477932,11971907,11474205,11256614,11230166,11076863,10329199,8576259,8508536,8428777,1633812,17353931,12488317,20936779 136319 NM_145808,NG_008063,AC015987,CH236950,CH471070,AF106075,AK055660,AK056225,AK309816,AL110137,AL834231,BC028093,BC034722,CR599361,CR609295,CR611568,CR625657 NP_665807,EAL24056,EAW83859,EAW83860,AAP97226,BAG51651,CAD38909,AAH28093,P58546,Q69YG1,CAL38094,CAL38144 Hs.602015 FLJ31098|FLJ99857|GCDP|V-1 granule cell differentiation protein|myotrophin|protein V-1 protein-coding 731933 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. [provided by RefSeq] 1581049,1581050,1359026,1300048,1302512,1601425,1580863,2317118,2317120 8968737,17353931,19504454,19493349,19427504,19420105,19394322,19389261,19353223,19349296,19336370,19332728,19328558,19283448,19263808,19240236,19177501,19161160,19159907,19124508,19112534,19074750,19064578,19048631,19034339,19020309,19019492,18996879,18992148,18988749,18983896,18844488,18843018,18842997,18842806,18836720,18830263,18815869,18801628,18785313,18771981,18700049,18676680,18636124,18635682,18620331,18607581,18510611,18498768,18485163,18483342,18447718,18435414,18427977,18406541,18386810,18378576,18351371,18329006,18322994,18281142,18273817,18249021,18222012,18204969,18199722,18174236,18060320,18053808,18034637,18023275,18004208,17993766,17967524,17925002,17904392,17891500,17853476,17822659,17726616,17702010,17691219,17664238,17655928,17636160,17617021,17611986,17596206,17595805,17590289,17581676,17574963,17553479,17551576,17546637,17533396,17522601,17461517,17454638,17450230,17449906,17436311,17417062,17412799,17339646,17311260,17311259,17287836,17220339,17160942,17152488,17151928,17119116,17119065,17074544,17035141,17024475,17009228,16985020,16947783,16894458,16861746,16799656,16778415,16712703,16709328,16580699,16485733,16470748,16407418,16365025,16333305,16328059,16284371,16268464,16142417,16115349,16051637,16051610,16013960,16006998,15979034,15894670,15889417,15866085,15820491,15797993,15790587,15719048,15612980,15598777,15551285,15514969,15354395,15205694,15202865,15201366,15198953,15159311,15148588,15138479,15117811,15111988,15098482,15044114,14977639,14760703,14744749,14702039,14684825,12964809,12923861,12893022,12876480,12855226,12810988,8968735,2407589,2070814,1583909,1517041,1516297,8968736,12649067,12648076,12642343,12482550,12477932,12375236,12372672,12164325,12154064,12111380,12091127,12068375,12020105,12716294,12670934,12015064,11920232,11684547,11672761,11592436,11584084,11342450,11257268,11204591,11186937,11074524,11074217,10791559,9683607,9587027,9242908,9013615,18799873,19170196,19533788,19588544,19619240,19625176,19649727,19683694,19692168,19706843,19706844,19729796,19737740,19751277,19760026,19774638,19776626,19776634,19777601,19826453,19834535,19837268,19838916,19843671,19858780,19936946,19948975,20031554,20056620,20082058,20085490,20101025,20111902,20180013,20209990,20235210,20237949,20310006,20378615,20437058,20445573,20447924,20453000,20458436,20466634,20490431,20532609,20544798,20549016,19913121,20615890,20628086,20634891,20647221,20670920,20737570,20723587,20819778,20852008,20883119,20890936,20955826,20960050,21041608,21045269,21055808,21070756 1581049,1359026,1302512,1601425,2317118,2317120 4548 BC144098,BX641132,DC377743,U71285,U73338,U75743,NM_000254,NG_008959,AL359185,AL359259,CH471098,AK090487,AK125206,AK127317,AK294270,AK299904,AK307390,AY429553,BC015894,BC067276,BC130616,BC136440,BC144095,BC144097 CAE46059,AAC51188,AAB39704,AAB58906,Q6MZH4,Q99707,NP_000245,CAH73198,CAH73200,CAH70983,CAH70984,EAW70066,EAW70067,BAG57561,BAG61745,AAI30617,AAI36441,AAI44096,AAI44098 Hs.498187 FLJ33168|FLJ43216|FLJ45386|MS|cblG 5-methyltetrahydrofolate--homocysteine methyltransferase|5-methyltetrahydrofolate-homocysteine methyltransferase 1|cobalamin-dependent methionine synthase|methionine synthase|vitamin-B12 dependent methionine synthase protein-coding 1352853 MTRF1 mitochondrial translational release factor 1 The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq] 1580863 20598281,9838146,18429816,17803939,15489334,15057823,14702039,12477932,10773675,20877624 9617 NM_004294,AL354696,CH471075,AA573449,AF072934,AK055086,AK294343,BC027731,BC038427,BC042196,BC065496,CA489782 NP_004285,CAI16615,CAI16617,EAX08648,EAX08649,EAX08650,EAX08651,EAX08652,EAX08653,AAD12759,BAG51464,BAG57612,AAH27731,AAH42196,O75570,Q8N6Z2 Hs.382176 MGC47721|MRF1|MTTRF1|RF1 MRF-1|OTTHUMP00000018316|mitochontrial peptide chain release factor 1|mtRF-1|peptide chain release factor 1, mitochondrial protein-coding 1316759 MTRF1L mitochondrial translational release factor 1-like 20877624,18541145,20598281,18978678,18429816,17803939,16344560,14702039,12477932,9373149,8125298,17207965,11256614 54516 NM_001114184,NM_019041,AL080276,CH471051,AK027684,AK095240,AK225321,AK225970,AK290662,AK297671,BC011873,BC014428,BC105973,CR607255,CR616466,DA152954 NP_001107656,NP_061914,CAB65994,CAI18896,CAI18897,CAI18898,CAI18899,EAW47712,EAW47713,EAW47714,EAW47715,EAW47716,BAB55295,BAG53012,BAF83351,BAG60033,AAH11873,AAH14428,AAI05974,Q9UGC7,ADQ32364 Hs.225836 HMRF1L|MGC102748|MRF1L|mtRF1a OTTHUMP00000017457|OTTHUMP00000017458|mitochondrial release factor 1 like|peptide chain release factor 1-like, mitochondrial protein-coding 4105738 MTRNR2L1 MT-RNR2-like 1 20542501,11371646,12009529,19477263 100462977 CR612552,NM_001190452 NP_001177381 Hs.721834 HN1 MTRNR2-like 1|humanin 1 protein-coding 4105536 MTRNR2L10 MT-RNR2-like 10 11371646,12009529,19477263 100463488 NM_001190708 NP_001177637 Hs.722730 HN10 MTRNR2-like 10|humanin 10 protein-coding 4105540 MTRNR2L11 MT-RNR2-like 11 11371646,12009529,19477263 100463489 AL590396,NG_023152 HN11 pseudo 4105534 MTRNR2L12 MT-RNR2-like 12 11371646,12009529,19477263 100463498 AC117444,NG_023159 HN12 pseudo 4105533 MTRNR2L13 MT-RNR2-like 13 11371646,12009529,19477263 100463500 AC024248,NG_023160 HN13 pseudo 4105737 MTRNR2L2 MT-RNR2-like 2 11371646,12009529,19477263 100462981 NM_001190470 NP_001177399 Hs.666077 HN2 MTRNR2-like 2|humanin 2 protein-coding 4105736 MTRNR2L3 MT-RNR2-like 3 11371646,12009529,19477263 100462983 NM_001190472,AL109955,AL135939 NP_001177401 Hs.727477 HN3 MTRNR2-like 3|humanin 3 protein-coding 4105667 MTRNR2L4 MT-RNR2-like 4 11371646,12009529,19477263 100463285 NM_001190476 NP_001177405 Hs.639648 HN4 MTRNR2-like 4|humanin 4 protein-coding 4105666 MTRNR2L5 MT-RNR2-like 5 11371646,12009529,19477263 100463289 AC074322,NM_001190478 NP_001177407 Hs.727204 HN5 MTRNR2-like 5|humanin 5 protein-coding 4105538 MTRNR2L6 MT-RNR2-like 6 11371646,12009529,19477263 100463482 NM_001190487 NP_001177416 Hs.727419 HN6 MTRNR2-like 6|humanin 6 protein-coding 4105539 MTRNR2L7 MT-RNR2-like 7 11371646,12009529,19477263 100288485 AL121927,NM_001190489 NP_001177418 Hs.727092 HN7 MTRNR2-like 7|humanin 7 protein-coding 4105537 MTRNR2L8 MT-RNR2-like 8 11371646,12009529,19477263 100463486 NM_001190702 NP_001177631 Hs.717003 HN8 MTRNR2-like 8|humanin 8 protein-coding 4105535 MTRNR2L9 MT-RNR2-like 9 11371646,12009529,19477263 100463487 AL356135,NM_001190706 NP_001177635 Hs.717010 HN9 MTRNR2-like 9|humanin 9 protein-coding 1343158 MTRNR3 mitochondrially encoded 5S-like sequence 4551 1318580 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1581051,1359037,1580863,2325772,2317118 20386493,20411324,20437058,20447924,20453000,20458436,20466634,20511665,20544798,20549016,20209990,20373852,19760026,19774638,19776626,19776634,19777601,19812220,19837268,19843671,19852428,19858780,19936946,19948975,20031554,20047525,20056620,20082058,20085490,20099281,20180013,20378615,20120036,11807890,11806787,11592436,11472746,10791559,10564814,10500018,10484769,10444342,9501215,19493349,19461557,19427504,19394322,19353223,19348062,19339913,19336437,19336370,19263808,19254790,19161160,19112534,19074885,19064578,19048631,19035314,19020309,19019492,18992148,18988749,18983896,18978678,18936436,18843018,18842997,18836720,18830263,18792976,18785313,18774994,18774170,18771981,18700049,18682255,18676680,18635682,18614746,18610829,18607581,18590621,18515090,18510611,18485163,18483342,18435414,18427977,18386810,18378576,18257130,18249021,18226574,18222012,18221906,18204969,18199722,18174236,18061941,18034637,18023275,18004208,17993766,17967524,17934692,17925002,17904392,17892308,17853476,17822659,17655928,17636160,17611986,17596206,17581676,17554763,17553479,17546637,17533396,17522601,17477549,17461517,17454638,17436311,17417062,17376725,17311260,17311259,17220339,17152488,17136115,17119116,17113603,17101561,17087642,17079868,17074544,17035141,17024475,17009228,16985020,16947783,16894458,16861746,16820193,16769880,16580699,16575899,16485733,16470748,16351505,16316363,16268464,16115349,16013960,16006998,15979034,15894670,15889417,15866085,15797993,15714522,15612980,15514969,15514263,15489334,15354395,15347655,15216546,15159311,15135249,15059614,14977639,14967039,14716779,14652285,14632302,12939653,12923861,12876480,12855226,12810988,12807760,12801615,12716294,12649067,12642343,12590188,12555939,12482550,12477932,12416982,12375236,12020105,19064571,19170196,19533788,19625176,19657388,19692168,19706844,19729796,19737740,20726305,19913121,20615890,20628086,20634891,20647221,20718043,20737570,20140262,20852008,20883119,20888556,20948192,20960050,20962453,21041608,21045269,21055808,21070756 1581051,1359037,2317118 4552 NM_002454,NM_024010,NG_008856,AC010346,AC025174,AF121213,CH471102,AF025794,AF121214,AK308442,AK311663,BC035977,BC054816,BC062577,BC109216,BC109217 NP_002445,NP_076915,AAF17303,AAF17304,EAX08090,EAX08091,EAX08092,EAX08093,AAC39667,AAF16876,AAH54816,AAI09217,Q7Z4M8,Q9UBK8 Hs.481551 MGC129643|MSR|cblE [methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)|methionine synthase reductase|methionine synthase reductase, mitochondrial protein-coding 1320466 MTSS1 metastasis suppressor 1 1580863 16921485,16344560,16280553,15684034,15545630,15489334,15488640,15383276,14752106,14702039,12482861,12477932,9455477,8889548,16169070,12570871,12082544,19328678,17442377,20080650,20201926,20379614 9788 AC090198,AC090922,CH471060,AB007889,AF086645,AF116674,AI041104,AJ710067,AK027015,AK126651,AK126989,AK295681,AK302036,NM_014751,AK310792,BC023998,BU674412,DA451172,EF560715,U50573 NP_055566,EAW92069,EAW92070,EAW92071,EAW92072,EAW92073,EAW92074,BAA24859,AAF15947,AAF71094,BAC86629,BAC86779,BAH12152,BAH13614,AAH23998,ABQ59025,O43312,Q6ZT16,Q6ZTG0,Q9P1G0 Hs.336994,Hs.700429 DKFZp781P2223|FLJ44694|KIAA0429|MIM|MIMA|MIMB metastasis suppressor YGL-1|metastasis suppressor protein 1|missing in metastasis protein protein-coding 1603934 MTSS1L metastasis suppressor 1-like 14752106,12477932,20875796 92154 CR590913,NM_138383,AC020763,CH471241,AB115770,BC002770,BC011452,BC024752,BC025271,BU859607 Q765P7,Q8TB44,AAI56234,AAI72467,NP_612392,EAW51797,EAW51798,EAW51799,BAC98378,AAH02770,AAH24752 Hs.432387 ABBA-1 MTSS1-like protein|actin-bundling protein with BAIAP2 homology|actin-bundling with BAIAP2 homology protein 1 protein-coding 1343796 MTTAS mitochondrially encoded termination associate sequence 4554 1347106 MTTER mitochondrially encoded transcription terminator 4557 1346953 MTTFH mitochondrially encoded transcription factor binding site H 4559 1345731 MTTFL mitochondrially encoded transcription factor binding site L 4560 1354282 MTTFX mitochondrially encoded transcription factor binding site X 4561 1350819 MTTFY mitochondrially encoded transcription factor binding site Y 4562 1318126 MTTP microsomal triglyceride transfer protein MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq] 1581043,1581044,1581045,1625490,1625482,1625483,1625489,1625485,1625486,1625487,1625492,1580863 18065580,18034366,18027103,17924655,17854051,17825806,17784784,17700364,17690102,17647275,17476189,17464986,17339647,17275380,16721486,16617174,16611701,16518588,16458034,16344560,16328015,16321277,16291571,16183064,16015282,15953542,15911777,15864113,15795421,15719047,15701598,15654125,15635487,15547295,15547294,15504742,15489334,15337761,15297289,15136504,15094225,15028851,14741197,14732481,14615589,12818411,12775233,12716735,12691171,12630961,12477932,12231571,12116231,12020640,11849654,11834530,11792722,11358959,10946006,10679949,9915855,9694898,9373149,9211060,9106493,8939939,8856971,8533758,8361539,8125298,8111381,7961826,7664034,7545943,20592474,1439810,19501864,19420105,19403348,19262398,19255880,19155782,19056372,19018985,18996102,18951054,18803359,18624350,18497885,18497882,18482281,18325332,16712791,18280132,19546343,19689828,19733470,19817962,20007910,19913121,20602615,20628086,20855565 1581043,1581044,1581045,1625490,1625482,1625483,1625489,1625485,1625486,1625487,1625492 4547 X91148,NM_000253,NG_011469,AC083902,CH471057,X83013,X83030,AA609331,AK225328,AK290793,AK302602,BC062696,BC125110,BC125111,BE047932,CB162574,CR596497,DB083001,X59657,X75500 CAA53217,CAA62585,P55157,Q6P5T3,NP_000244,EAX06106,CAA58142,BAF83482,BAH13759,AAH62696,AAI25111,AAI25112,CAA42200 Hs.195799 ABL|MGC149819|MGC149820|MTP OTTHUMP00000161646|OTTHUMP00000220444|microsomal triglyceride transfer protein (large polypeptide, 88kDa)|microsomal triglyceride transfer protein (large polypeptide, 88kda)|microsomal triglyceride transfer protein large subunit protein-coding 1343554 MTUS1 mitochondrial tumor suppressor 1 This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq] 708603,2317016,2317017,2317019 20687230,19344625,18519826,17301065,16887298,16650523,16344560,15123706,14702039,12692079,12477932,10574462,19545354,19794912,19956880,20379614 708603,2317016,2317017,2317019 57509 NG_023373,NM_001001925,NM_001001924,NM_001001931,NM_020749,AC027117,AC124069,CH471080,AB033114,AF086371,AF121259,AF293357,AF394227,AK000172,AK024357,AK026661,AK093875,AK125188,AK289750,AK294860,AK304105,AK310871,AK314692,AL096842,AY363099,BC007328,BC017740,BC033842,BC098381,BC117564,BC136320,BC142971,BC171765,BX648879,CR595170,CR605239,CR626173,CR626256,DA075758,DA339588,DB221458,DA113649,FJ458441,NM_001166393 NP_001001925,NP_001001924,NP_001001931,NP_065800,EAW63804,EAW63805,EAW63806,EAW63807,EAW63808,EAW63809,EAW63810,BAA86602,AAG33674,AAL37035,BAB14894,BAG54161,BAF82439,BAG57964,BAG65008,BAG37243,CAB50791,AAQ24172,AAH07328,AAH33842,AAI36321,AAI42972,CAH56128,Q9ULD2,AAI40068,AAI40069,NP_001159865 Hs.7946 ATBP|ATIP|DKFZp586D1519|DKFZp686F20243|FLJ14295|KIAA1288|MP44|MTSG1 AT2 receptor-binding protein|AT2 receptor-interacting protein|AT2R binding protein|angiotensin-II type 2 receptor-interacting protein|erythroid differentiation-related|microtubule-associated tumor suppressor 1|mitochondrial tumor suppressor gene 1|transcription factor MTSG1 protein-coding 1351611 MTX1 metaxin 1 1580863 17353931,8660965,17624330,17510655,15252450,15024629,12477932,11454742,9045676,7753840,11027586,10381257,9331372,18029348,20877624 4580 NM_198883,NM_002455,AF023268,AL713999,CH471121,U46920,AK313863,BC001906,BC035616,BE394487,BG717732,BQ003402,BU552401,CF529296,CR591813,CR605982,CR608869,CR611714,CR614718,CR619225,DQ786325,AC217785 NP_942584,NP_002446,AAC51819,CAI95085,CAI95086,CAI95087,EAW53105,EAW53106,EAW53107,EAW53108,AAC50490,BAG36591,AAH01906,Q13505 Hs.490874 MTX|MTXN OTTHUMP00000033826|metaxin-1|mitochondrial outer membrane import complex protein 1 protein-coding 1350518 MTX1P metaxin 1 pseudogene 9331372,8660965,7753840 4581 NG_001160,AF023268,AL713999,U46921,XM_003118443,XM_003118444 XP_003118491,XP_003118492 MTX1P|MTXP|psMTX pseudo 1315110 MTX2 metaxin 2 The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq] 1580863 20877624,10381257,17624330,17510655,15489334,14702039,12477932,17207965,20379614 10651 NM_006554,NR_027850,AC016739,AC073069,CH471058,AF053551,AI991560,AK001287,AK289359,AK303564,AK315918,BC017271,BC067831,BC088359,BG699784,CR617418,CR622668 NP_006545,AAY14795,AAX93188,EAX11076,EAX11077,EAX11078,AAC25105,BAG50886,BAF82048,BAG64587,BAH14289,AAH17271,AAH67831,AAH88359,O75431,Q8IZ68,ADQ31976 Hs.470728 MGC111067 OTTHUMP00000205150|OTTHUMP00000205153|metaxin-2|mitochondrial outer membrane import complex protein 2 protein-coding 1601695 MTX3 metaxin 3 15087125,14702039,12477932 345778 NM_001010891,AC112184,CH471084,AK091375,AK296864,AW957034,BC035085,BC150295,BX537790,BX538064,BX647596,DB456588,BQ128103,NM_001167741 NP_001010891,EAW95840,BAG59427,CAD97995,CAI46098,Q5HYI7,Q7Z380,AAI60186,NP_001161213 Hs.531418 DKFZp686O1788 OTTHUMP00000222296|OTTHUMP00000222297|OTTHUMP00000222298|metaxin-3 protein-coding 737252 MUC1 mucin 1, cell surface associated This gene is a member of the mucin family and encodes a membrane bound, glycosylated phosphoprotein. The protein is anchored to the apical surface of many epithelia by a transmembrane domain, with the degree of glycosylation varying with cell type. It also includes a 20 aa variable number tandem repeat (VNTR) domain, with the number of repeats varying from 20 to 120 in different individuals. The protein serves a protective function by binding to pathogens and also functions in a cell signaling capacity. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length nature of only some has been determined. [provided by RefSeq] 2324667,2303743,2324855,2317987,2324633,2317986,2324649,2324856,2324857,2317980,2317983,2317981,2324651,2324637,2324638,2324639,2324650,2324616,2324664,2324652,2324622,2324648,2324635 17064405,17050588,16983337,16969297,16925492,16888623,16857798,16846534,16752227,16740655,16720361,16707592,16670941,16627342,16585136,16547220,16518063,16475027,16427018,16403482,16369486,16358996,16357367,16320110,16289035,16272309,16266293,16194893,16188033,16158055,16155793,16127146,16094706,16042579,16034102,15987679,15972891,15971251,15944787,15944279,15919376,15897748,15893750,15710329,15699174,15623537,15604091,15599383,15489654,15471854,15322085,15187110,15169768,15149576,15147861,15142990,17974963,17972522,17936281,17916995,17916404,17889671,17852076,17764657,17726465,17717071,17703412,17692456,17678912,17671696,17668208,17664159,17659847,17650217,17649808,17645748,17617560,17609879,17600314,17593083,17592322,17581677,17575006,17565019,17524503,17504123,17465489,17409826,17401217,17393422,17333267,17227128,17203187,17195076,17128152,17114345,17102128,17090543,17078870,7635656,7515892,6094338,3417635,3268039,2715633,2597151,2394722,2351132,2318825,2268309,2112460,1688329,1556125,12750561,15221004,20444960,20441435,20593949,20635898,20697347,20806091,20936779,20729852,20682394,21072847,20598042,19521276,19478465,19429776,19420969,19414404,19406479,19383302,19383238,19318547,19299552,19289846,19289587,19286849,19270645,19258923,19238635,19236510,19201396,19175940,19141292,19121298,19064572,19058789,19032382,19019843,18983038,18952292,18949395,18848467,18834073,18833326,18821582,18812166,18779174,18713982,18676836,18640764,18628787,18625714,18619437,18614437,18609108,18608209,18575761,18561742,18507055,18454162,18446242,18417712,18413738,18407586,18403635,18381450,18354214,18322957,18314133,18308334,18268124,18161663,18154934,18094420,18089786,18085378,18059019,18055557,18037881,18030564,1697589,19536620,15102686,15041735,15020226,15009981,14998492,14766232,14707484,14688481,14636048,14620915,14616551,14578499,14534730,14509156,12955090,12939402,12925576,12893366,12826677,12820726,12798775,12754287,12734543,12724017,12652076,12646057,12640674,12618757,12553374,12477932,12462382,12441351,12417297,12377938,12372344,12364335,12199709,12161443,12135769,12105832,12090474,12088101,12054500,12019297,12000758,11984004,11920540,11877440,11872746,11847293,11836704,11813869,11787681,11483589,11464247,11350974,11341784,11311200,11278868,11181067,11152665,11101635,11062147,10859271,10835316,10610356,10373415,10334541,10197628,9819408,9751614,9685530,9312074,9295285,9212228,9139698,9096884,8912645,8889548,8835095,8608966,8604237,8143972,7988707,7925397,7664271,20036855,20832392,21115917,20616115,17991319,18029348,19007994,19025220,19135167,19217667,19415485,19430419,19506091,19549898,19556244,19556858,19578748,19625949,19631667,19639217,19683510,19690136,19706766,19711367,19715603,19724850,19776674,19816567,19856476,19885554,19915608,19924550,19960788,19960789,19996288,20070602,20081068,20137854,20237496,20306655,20306663,20361287,20503287,20353905,20406885,20484415,20529812,19943130,20826587,21102463,20700443,20565834,21070779 2324667,2303743,2324855,2317987,2324633,2317986,2324649,2324856,2324857,2317980,2317983,2317981,2324651,2324637,2324638,2324639,2324650,2324616,2324664,2324652,2324622,2324648,2324635 4582 NM_001018016,NM_002456,NM_001044391,NM_001018017,NM_001044390,NM_001044393,AL713999,AY463543,CH471121,L38597,M35093,M61170,AF125525,AF348143,AK301575,AY327582,AY327583,AY327584,AY327585,AY327586,AY327587,AY327588,AY327589,AY327590,AY327591,AY327592,NM_001044392,AY327596,AY327597,AY327598,AY327599,AY327600,AY466157,BC120974,BC120975,BM969296,BM971650,CR596859,EF583642,EF583643,EF583644,EF583645,EF583646,EF583647,EF583648,EF583649,EF583650,EF583651,EF583652,EF583653,EF583654,EF583655,EF583656,EF670706,EF670707,EF670708,EF670709,AY327595,EF670711,EF670712,EF670713,EF670714,EF670715,EF670716,EF670717,EF670718,EF670719,EF670720,EF670721,EF670722,EF670723,FJ226028,FJ226029,FJ226030,FJ226031,FJ226032,FJ226033,FJ226034,FJ226035,FJ226036,FJ226037,FJ226038,FJ226039,FJ226040,FJ226041,FJ226042,FJ226043,FJ226044,FJ226045,FJ226046,FJ226047,FJ226049,EF670710,FJ226050,FJ226051,FJ226052,FJ226053,FJ226054,FJ226055,J05581,J05582,M26316,M31823,M32738,M32739,M34088,M34089,S81736,S81781,U60259,U60260,U60261,X52228,X52229,X80761,Z17324,Z17325 NP_001037857,NP_001018016,NP_002447,NP_001037856,NP_001018017,NP_001037855,NP_001037858,CAI95071,CAI95072,CAI95073,CAI95074,CAI95075,CAI95076,CAI95077,CAI95078,CAI95079,CAI95080,AAR18816,EAW53116,EAW53119,AAA57348,AAB59612,AAB53150,AAD27842,AAK30142,BAG63068,AAP97013,AAP97014,AAP97015,AAP97016,AAP97017,AAP97018,AAP97019,AAP97020,AAP97021,AAP97022,AAP97023,AAP97024,AAP97025,AAP97026,AAP97027,AAP97028,AAP97029,AAR28764,AAI20975,AAI20976,ABQ59617,ABQ59618,ABQ59619,ABQ59620,ABQ59621,ABQ59622,ABQ59623,ABQ59624,ABQ59625,ABQ59626,ABQ59627,ABQ59628,ABQ59629,ABQ59630,ABQ59631,ABS01293,ABS01294,ABS01295,ABS01296,ABS01297,ABS01298,ABS01299,ABS01300,ABS01301,ABS01302,ABS01303,ABS01304,ABS01305,ABS01306,ABS01307,ABS01308,ABS01309,ABS01310,ACI25160,ACI25161,ACI25162,ACI25163,ACI25164,ACI25165,ACI25166,ACI25167,ACI25168,ACI25169,ACI25170,ACI25171,ACI25172,ACI25173,ACI25174,ACI25175,ACI25176,ACI25177,ACI25178,ACI25179,ACI25180,ACI25181,ACI25182,ACI25183,ACI25184,ACI25185,ACI25186,AAA59876,AAA60019,AAA36336,AAA35757,AAA35804,AAA35806,AAA35805,AAA35807,AAD14369,AAD14376,AAD10856,AAD10857,AAD10858,CAA36477,CAA36478,CAA56734,CAA78972,CAA78973,P15941,Q14877,Q6S4Y3,Q7Z536,Q7Z537,Q7Z538,Q7Z539,Q7Z540,Q7Z541,Q7Z542,Q7Z543,Q7Z544,Q7Z545,Q7Z546,Q7Z547,Q7Z548,Q7Z549,Q7Z550,Q7Z551,Q9UMI8 Hs.89603 CD227|EMA|H23AG|KL-6|MAM6|PEM|PEMT|PUM DF3 antigen|H23 antigen|MUC-1|MUC-1/SEC|MUC-1/X|MUC1/ZD|OTTHUMP00000033786|OTTHUMP00000033788|OTTHUMP00000033789|OTTHUMP00000033793|breast carcinoma-associated antigen DF3|carcinoma-associated mucin|episialin|mucin 1|mucin 1, transmembrane|mucin-1|peanut-reactive urinary mucin|polymorphic epithelial mucin|tumor associated epithelial mucin|tumor-associated epithelial membrane antigen|tumor-associated mucin protein-coding 1346210 MUC10 mucin 10, submandibular gland salivary mucin 386748 BC042902 1348967 MUC11 mucin 11 1580863 10463611 10070 Q9UKN0 1347863 MUC12 mucin 12, cell surface associated 1580863 10463611,18834073,12477932,20162577,20936779 10071 NM_001164462,AC105446,CH471197,AF147790,AF147791,AK024856,AK025404,BC127877,AK296627 NP_001157934,EAW50190,AAD55678,AAD55679,AAI27878,Q9UKN1,BAH12403 Hs.489355 MUC-11|MUC-12|MUC11 mucin 11|mucin 12|mucin-11|mucin-12 protein-coding 1350619 MUC13 mucin 13, cell surface associated Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM] 1302405,1580863 16344560,19176398,18834073,17058067,15904467,14702039,12975309,11278439,12507512 1302405 56667 DA428072,AY358831,NM_033049,AC026342,CH471052,AB035807,AF286113,AK000070 AAQ89190,Q9H3R2,AAI72322,NP_149038,EAW79404,BAB19651,AAK56861,BAA90925 Hs.5940 DRCC1|FLJ20063|MUC-13 MUC-13|down-regulated in colon cancer 1|mucin 13, epithelial transmembrane|mucin-13 protein-coding 1351658 MUC15 mucin 15, cell surface associated 18834073,17720698,16344560,15489334,12975309,12477932,12047385,8889548,19520792,19553259,17207965 143662 NM_001135092,NM_001135091,AC036114,CH471064,AJ417818,AJ507429,AK026790,AK128337,AY358668,BC020912,BC058007,NM_145650,CR626511,DA842986,BU676338 NP_663625,NP_001128564,NP_001128563,EAW68297,EAW68298,EAW68299,CAD10624,CAD45555,BAG54662,AAQ89031,AAH20912,AAH58007,Q8N387,ADQ32187 Hs.407152 MUC-15|PAS3|PASIII mucin-15 protein-coding 1346263 MUC16 mucin 16, cell surface associated 1580863,2325132,2325134,2325203,2325129 20361286,14566828,12893366,12734200,12218296,11920644,11786729,11369781,10737800,12615972,20598042,20628030,20497550,14676194,12766047,19440066,19383238,19337252,19270645,19122828,19075018,19064572,19060592,18854288,18834073,18820245,18797897,18782111,18609108,18555226,18503158,18342144,18317225,18042071,17942799,17852813,17852076,17706208,17662495,17604678,17592322,17449138,17413979,17301071,17300679,17285443,17211626,17067392,16979301,16923563,16384952,16194893,16174214,15788735,15599662,15483748,15016783,14764598,14702039,20090516,18555706,19437230,19556244,19585675,19589273,20008896,20009886,20089172,20099501,20488159,21046495 2325132,2325134,2325203,2325129 94025 NM_024690,AC008734,AC016584,AF361486,AF414442,AK024365,AK056791,AK128681,AK128856,AK128857,BF359193,BI256451 NP_078966,AAK74120,AAL65133,BAB14899,BAC87568,BAG54742,BAG54743,Q8WXI7,Q9H7S7 Hs.432676 CA125|FLJ14303 CA-125|CA125 ovarian cancer antigen|MUC-16|mucin 16|mucin-16|ovarian cancer-related tumor marker CA125|ovarian carcinoma antigen CA125 protein-coding 1312511 MUC17 mucin 17, cell surface associated Membrane mucins, such as MUC17, function in epithelial cells to provide cytoprotection, maintain luminal structure, provide signal transduction, and confer antiadhesive properties upon cancer cells that lose their apical/basal polarization.[supplied by OMIM] 20065027,9299468,18834073,17990980,16737958,16341674,12888891,12477932,12027806,11855812,20211273 140453 AF016693,AF016694,AF430017,AJ606307,AJ606308,AK026404,BC126315,BM768498,BM773519,BM987743,NM_001040105,AC105446,AF016692 AAB71686,AAB71687,AAL89737,CAE54435,CAE54436,AAI26316,O14760,O14762,Q685J3,AAB71685,NP_001035194 Hs.271819 MUC3 MUC-17|MUC-3|membrane mucin MUC17|mucin 17|mucin-17|secreted mucin MUC17|small intestinal mucin MUC3|small intestinal mucin-3 protein-coding 1343631 MUC19 mucin 19, oligomeric Mucus is a viscoelastic substance that covers the epithelial surface of various tissues, providing lubrication and protection from environmental insults. The gel-like properties of mucus are generally attributed to the physical properties and structural features of gel-forming mucins, such as MUC19 (Chen et al., 2004 [PubMed 12882755]).[supplied by OMIM] 19068216,18834073,18587394,18426393,18184611,17667140,15340121,14702039,19714762,21102463,12882755,19533339,21072187,20379614,21072847 283463 XR_110350,XR_111291,XR_114584,AC024935,AC074030,AC107023,AK093065,AY236870,BG718209,CR749517,DV080669,DV080670 BAC04041,AAP41817,Q7Z5P9 Hs.632712,Hs.711526 FLJ35746 MUC-19|OTTHUMP00000066281|OTTHUMP00000067238|mucin 19|mucin-19 protein-coding 735987 MUC2 mucin 2, oligomeric mucus/gel-forming This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq] 1580863,2324651,2324948,2317985,2324868,2324889,2324675,2324887,2324683,2303607,2324672,2324685 19258923,19246635,19201396,19119477,18834073,18825309,18566135,18487999,18301248,18300795,18299935,18059019,18038313,18004654,18000536,17982272,17703412,17659847,17509526,17471237,17401217,17333267,17321686,17203232,17058067,16754877,16733847,16721789,16552339,16475027,16447040,16285957,16227528,16188033,16142311,15733066,15665513,15345696,15240568,15081123,15048136,15000151,14678781,14616551,14550542,14525978,12820724,12582180,12559945,12527922,12507512,12490305,12482999,12417297,12391274,12374798,12237307,12218214,12135769,12077118,11893907,11813869,11445551,11062147,10737800,10336486,9865718,9722984,9668061,9407109,9224654,9065467,8975711,8300571,7926500,7864825,2703501,2265829,2254452,1985113,1980995,1885763,1550588,1400449,12820725,12848848,17991319,19321523,19359471,19432394,19718741,19815850,20065027,20198318,20198339,20379614,20485009,20503287,20731025 2324651,2324948,2317985,2324868,2324889,2324675,2324887,2303607,2324672,2324685 4583 XM_002347185,XM_003120675,NM_002457,AC139749,AF257165,AF257166,AJ007575,CH471158,M74027,U67167,U68061,AA527400,AF257167,AW054915,BG982960,BQ340542,CV354692,DV080627,L21998,M22404,M22405,M57417,M86523,M94131,M94132 XP_002347226,XP_003120723,NP_002448,AAG18516,AAG18515,EAX02421,EAX02422,AAA59875,AAC51519,AAG18517,AAB95295,AAA36333,AAA36334,AAA63229,AAA59861,AAA59163,AAA59164,O00243,Q02817,Q14883,Q14884,Q99322,Q9HBC5,Q9HBC6,Q9HBC7,Q9UMI9 Hs.315 MLP|MUC-2|SMUC MUC-2|OTTHUMP00000210640|intestinal mucin-2|mucin 2, intestinal/tracheal|mucin-2|mucin-like protein protein-coding 1312550 MUC20 mucin 20, cell surface associated This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The shorter isoform expressed by this gene is localized to the plasma membrane, whereas the longer isoform might be secreted. The C terminus of this protein associates with the multifunctional docking site of the met proto-oncogene and suppresses activation of some downstream met signaling cascades. The protein features a tandem repeat domain that varies between 2 and 6 copies in different individuals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10737800,10718198,8889548,12477932,15314156,18834073,16508246,16029633,15342556,14702039,14565953,12975309 200958 NM_152673,NM_001098516,AB098733,AC069513,AC233280,CH471052,AB037780,AB098731,AK027314,AK075138,AK298316,AK311504,AY358449,BC029267,BC044243,BF883124,BM697386,BM721408,BM986861,BP352469,BU685426,DC348309 NP_689886,NP_001091986,BAD06720,EAW78022,BAA92597,BAD06718,BAB55035,BAC11428,BAH12755,AAQ88814,AAH29267,AAH44243,Q8N307 Hs.308992 FLJ14408|FLJ53153|KIAA1359|MUC-20 mucin-20|transmembrane mucin MUC20S 1643250 BW134_H protein-coding 1606083 MUC21 mucin 21, cell surface associated 20388707,17977904,16344560,14702039,12975309,12477932,19851445 394263 AY358415,BC105735,BC105736,BC105737,BC107478,DA763771,AK316363,NM_001010909,AL663093,AL669830,AL773541,CH471081,CR759747,CR759772,CR759964,CT009610,AB242595,AK056612,AK298642,AK301645,HM596784 BAH14734,AAQ88781,AAI05736,AAI05737,AAI05738,AAI07479,Q5SSG8,NP_001010909,CAI17705,CAI18008,EAX03353,CAQ06767,CAQ07653,CAQ09393,CAQ08321,BAF92842,BAG60817,BAG63124,ADJ96647 Hs.448277 C6orf205|KMQK697|MGC125609|bCX31G15.2 MUC-21|epiglycanin|mucin-21 protein-coding 736898 MUC3A mucin 3A, cell surface associated The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM] 1580863,2324946,2324948,2303743,2303607,1625545,2325170 20510874,9334251,10405327,10512748,19365837,19365834,18834073,18790050,18163520,14550470,12958310,12853948,11289722,10973822,7778880,2393399,1362870,9847074 2324946,2324948,2303743,2303607,1625545,2325170 4584 XM_001725354,AB038782,AC105446,AC118759,AF007195,AF007196,AF007197,AF113616,AY307930,AB038784,AF007194,AF143371,AF143372,AF143373,M55405,M55406,XR_110717,XM_003119068,XM_003120593 XP_001725406,BAB12116,AAB84382,AAB84383,AAB84381,AAF13032,AAQ73824,BAB12118,AAC02272,AAD45882,AAD45883,AAD45884,AAA63772,AAA63773,O14652,Q02505,Q9H3Q6,XP_003119116,XP_003120641 Hs.489354 MUC-3A|MUC3|mucin MUC-3A|OTTHUMP00000211364|intestinal mucin-3A|mucin 3|mucin 3, intestinal|mucin 3A, intestinal|mucin-3A protein-coding 1347141 MUC3B mucin 3B, cell surface associated 18163520,12958310,12853948,11289722,10973822,10512748,10405327,9334251,2393399 57876 XM_001125753,AB038781,AJ291390,AB038783,AY307931 XP_001125753,BAB12115,CAC19572,BAB12117,AAQ73825,Q6W762,Q7LDU4,Q9H195 Hs.489354 MUC3|MUC3A MUC-3B|intestinal mucin MUC3B|intestinal mucin-3B|mucin 3b|mucin-3B protein-coding 735893 MUC4 mucin 4, cell surface associated The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq] 2303602,2303743,2303607,2303746,1580863,2324946,2324921,2324944,2324927,2324929,2324916,2324931,2324942,2324922,2324890,2324914,2324891,2324923 1673336,20697346,19757157,18492726,18475301,18397823,18381409,18008338,17891050,17703412,17621592,17592322,17553805,17406026,17292332,17058067,17037983,16914178,16891313,16880776,16857800,16814944,16807280,16799633,16779668,16690615,16624867,16475027,16344560,16329125,16302265,16266293,16049287,16007204,15897748,15672420,15461591,15184872,14744777,14690056,12748185,12732353,12495942,12477932,12434309,12386815,12153560,12102554,12084055,11925450,11727258,11687512,11598901,11062147,10880978,9858486,9620877,8245407,7745080,10024507,10920259,18029348,19288496,19258923,19236510,19127263,19082442,19010895,18834073,18781152,18665193,18573283,1351710,20423995,20432461,19188823,19738614,20065027,20503287,21072847 2303602,2303743,2303607,2303746,2324946,2324921,2324944,2324927,2324929,2324916,2324931,2324942,2324922,2324890,2324914,2324891,2324923 4585 NM_138297,NM_004532,NM_018406,AC069513,AC233280,AF522055,AJ000282,AJ430032,AF058803,AF058804,AF177925,AJ000281,AJ010901,AJ242541,AJ242542,AJ242543,AJ242544,AJ242545,AJ242546,AJ242547,AJ242548,AJ242549,AJ242550,AJ276359,AJ277412,AJ277505,AJ400633,AJ400849,AJ400850,AJ400851,AJ400852,AJ400853,AJ400854,AJ400855,AJ400856,AJ400857,AJ400858,AW190850,BC131770,BX957139,DB227644,EF091824,M64594 NP_612154,NP_004523,NP_060876,AAM66747,CAD22550,AAC34750,AAC34751,AAD53171,CAA03985,CAB38059,CAB85597,CAB85598,CAB85599,CAB85600,CAB85601,CAB85602,CAB85603,CAB85604,CAB85605,CAB85606,CAB81773,CAC10061,CAC14585,CAC10062,CAC14134,CAC14135,CAC14136,CAC14137,CAC14138,CAC14139,CAC14140,CAC14141,CAC14142,CAC14143,ABK78776,AAA63230,O75456,O76037,Q99102,Q9UK75,Q9UP82 Hs.369646 HSA276359 ASGP|MUC-4|OTTHUMP00000216675|OTTHUMP00000216676|OTTHUMP00000216679|ascites sialoglycoprotein|mucin 4|mucin 4, tracheobronchial|mucin-4|pancreatic adenocarcinoma mucin|testis mucin|tracheobronchial mucin 1643250 BW134_H protein-coding 737024 MUC5AC mucin 5AC, oligomeric mucus/gel-forming 2324990,4145454,2324986,2324954,2324890,2324651,2324948,2324973,2324968,2324907,2325129,2317984,2324889,2324987,2324887,2325168,2324916 18201532,20216230,10611155,14749330,19258923,19201889,19201815,19059885,18978302,18848467,18834073,18825309,18782768,18782111,18676374,18539955,18475301,18424749,18300795,18285671,18283638,18167142,18166592,18163520,18073139,18027866,18006877,17982272,17891046,17703412,17659847,17646388,17621824,17565737,17555715,17543073,17471237,17401217,17395013,17356062,17333267,17330845,17321686,17237423,17227128,17203232,17148666,16787389,16722930,16596179,16552336,16540890,16500622,16475027,16465045,16251127,16188033,16148149,16142316,16142311,15640347,15563276,15531749,15235131,14988081,14535999,14527933,12972643,12820724,12690113,12652076,12527922,12477932,12417511,12391274,12360467,12042033,11992401,11988092,11919081,11535137,11445551,11181995,11062147,9620876,16409634,9588204,9506983,8948439,7826332,7775418,7513696,12507512,12135769,19856421,20362698,17991319,19141355,19168703,19266212,19394453,19501047,19556605,19596978,19671252,19718656,19718741,19723147,19789190,19841186,19841867,19924550,20117097,20422702,20485009,20503287,20731025,20734208,20338103,20713760 2324990,4145454,2324986,2324954,2324890,2324651,2324948,2324973,2324968,2324907,2325129,2317984,2324889,2324987,2324887,2325168,2324916 4586 XM_003119481,AADC01095577,AADD01112371,AC139749,AF016834,AJ001403,AJ298318,AP006588,CH471158,Z34276,AF015521,AF043909,AJ001402,AJ298317,AL833060,BC033831,U06711,X81649,Z34277,Z34278,Z34279,Z34280,Z34281,Z34282,Z48314,AJ298319 XP_003119529,AAC15951,CAA04738,CAC83675,EAX02424,EAX02425,CAA84030,AAC15950,AAC19168,CAA04737,CAC83674,CAH56330,AAH33831,AAA18431,CAA57309,CAA84031,CAA84032,CAA84033,CAA84034,CAA84035,CAA84036,CAA88307,O75372,P98088,Q14886,Q14887,Q14888,Q14889,Q14890,Q14891,Q14892,Q7LDT3,CAC83676 Hs.534332,Hs.558950,Hs.721515 MUC5|TBM|leB MUC-5AC|TBM|gastric mucin|leB|lewis B blood group antigen|major airway glycoprotein|mucin 5, subtypes A and C, tracheobronchial/gastric|mucin 5, subtypes a and c|mucin-5 subtype AC, tracheobronchial|mucin-5AC|tracheobronchial mucin protein-coding 1347084 MUC5B mucin 5B, oligomeric mucus/gel-forming Mucins are high molecular mass, highly glycosylated macromolecules that are the major components of mucus secretions. MUC5B is a salivary mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva. It is composed of 14.9% protein, 78.1% carbohydrate, and 7% sulfate (Troxler et al., 1995 [PubMed 8554565]).[supplied by OMIM] 1580863,2324948,2324986,2325214 1718282,19258923,19191526,19118346,18834073,18776153,18757307,18688042,17703412,17671696,17621824,17471237,17063754,16740002,16540890,16341674,16188033,15709052,15563276,14988081,14758553,20946627,14690056,12768436,12756239,12459324,11996097,11853536,11825880,11713095,11062147,10217161,9804771,9790959,9201995,9164870,9147051,9013550,8889548,8554565,7916618,7513696,9109822,19556605,19596978,19718741,19783639,20422702,20503287,17473699,17606809,17850213,17998215,18272164,18282555,18339669,18817906,19077699,19452580,19556293,20066894,20081098,20156260,20197185,20497020,20531251,20572857 2324948,2324986,2325214 727897 AC061979,AF107890,AJ004862,U78554,Y09788,Z72496,AA577624,AF086604,AF253321,AK303892,AK310939,BM740816,BM796192,BM817984,CA450235,DC418119,S80993,U63836,U78550,U78551,U95031,X74370,X74955,NM_002458,X74954,X74956 NP_002449,AAG33673,CAA06167,AAC51344,CAA70926,CAA96577,AAC67545,AAF64523,BAG64826,AAB35930,AAB61398,AAC51342,AAC51343,AAB65151,CAA52408,CAA52910,O00446,Q14879,Q93043,Q9HC84,Q9NYE4,CAA52909,CAA52911,Q14880,Q14882 Hs.523395 MG1|MUC-5B|MUC5|MUC9 MUC-5B|cervical mucin MUC5B|high molecular weight mucin|high molecular weight salivary mucin MG1|mucin 5, subtype B, tracheobronchial|mucin, salivary (high molecular weight)|mucin-5 subtype B, tracheobronchial|mucin-5B|sublingual gland mucin protein-coding 1353445 MUC6 mucin 6, oligomeric mucus/gel-forming 2325159,2325166,2325167,2324651 7680650,18834073,18825309,18360351,18300795,17982272,17471237,17401217,17227128,17009402,16807756,16554811,16475027,16447040,15979574,15716126,15280409,15081123,14702039,12360467,11988092,10330458,20602200,9422745,9195947,10673290,10209489,19423540,19682628,19855374,19924550,20139757,20406964,20438785,20506113 2325159,2325166,2325167,2324651 4588 NM_005961,AC139749,AY314024,AY370683,AY500284,AK092533,AK096772,AK098503,AY312160,AY458429,U97698 NP_005952,AAQ86940,AAR14188,AAS76674,BAC04860,AAQ82434,AAS13634,AAC51370,Q4L213,Q6W3D1,Q6W4X9 Hs.528432 MUC-6 MUC-6|gastric mucin-6|mucin 6, gastric|mucin-6 protein-coding 1344843 MUC7 mucin 7, secreted This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. 1580863 15501816,15489334,14702039,12766201,12507512,12477932,12459324,12417297,12135769,16203048,18029348,19258923,19247692,18834073,17703412,16778149,16759176,16514118,16344560,15731026,11996097,11378823,9538010,9363439,8838308,7690757,20946627,19423540,19820409,20406964,20438785,20503287 4589 NM_001145006,NM_001145007,NM_152291,NG_012348,AC106884,AC108518,CH471057,DQ157434,AK093828,AK312855,BC025688,BX537739,BX647190,BX648903,DB194707,DB199851,DB206328,L13283 NP_001138478,NP_001138479,NP_689504,EAX05621,AAH25688,Q8TAX7,ABM85003 Hs.631946 DKFZp686J03256|FLJ27047|MG2|MGC34772 MUC-7|OTTHUMP00000219138|apo-MG2|mucin 7, salivary|mucin-7|salivary mucin-7 protein-coding 1347821 MUC8 mucin 8 1580863 18952062,18834073,16188033,15966694,15615708,15330148,12842905,9070607,8002930,20564234 4590 U14383 AAA58346,Q12964 Hs.592357 mucin 8, tracheobronchial protein-coding 1606746 MUCL1 mucin-like 1 19221791,18497056,16720387,15880534,15684711,15489334,15340161,15096563,12975309,12477932,12019145,10737800,18269587,20364301 118430 AC117496,CH471054,NM_058173,AF414087,AI905624,AY359062,AY651259,BC111421,CS488886 NP_477521,EAW96795,AAL02119,AAQ89421,AAT72303,AAI11422,Q96DR8,CAM55960 Hs.348419 SBEM mucin-like protein 1|small breast epithelial mucin protein-coding 1317656 MUDENG MU-2/AP1M2 domain containing, death-inducing 18395520,16344560,15489334,15146197,14702039,12477932,11230166,9373149,8125298 55745 NM_018229,NR_026895,AL139195,AL355834,CH471061,AF094583,AK001675,AK172824,AK225345,AK303999,AL136685,BC013174,BQ000414,CN352262,CR619762,DB204683 NP_060699,EAW80700,EAW80701,EAW80702,EAW80703,AAC78130,BAA91828,BAD18791,BAG64916,CAB66620,AAH13174,Q9H0R1 Hs.597349 C14orf108|FLJ10813|MuD MHD domain-containing death-inducing protein|Mu-2 related death-inducing|mu-2-related death-inducing protein|putative HIV-1 infection-related protein protein-coding 1606503 MUL1 mitochondrial ubiquitin ligase activator of NFKB 1 19060904,19407830,12477932,11256614,11230166,11076863,18029348,20877624,12761501,18213395,18207745,18591963,18082624,16710414,16381901,16189514,15489336,15489334,14702039,19690564,20860623 79594 AK303820,AL391357,CH471134,CQ871304,AB097015,AK022937,AK293430,AL833889,BC010101,BC014010,NM_024544,CR593496,EU935008 BAH14060,NP_078820,CAH73470,EAW94926,EAW94927,EAW94928,EAW94929,CAH56833,BAC77368,BAB14317,BAG56935,CAD38745,AAH10101,AAH14010,ACH72645,Q969V5,CAL38209,CAL38566 Hs.10101 C1orf166|FLJ12875|GIDE|MAPL|MULAN|RNF218|RP11-401M16.2 E3 ubiquitin ligase|E3 ubiquitin-protein ligase MUL1|growth inhibition and death E3 ligase|mitochondria-anchored protein ligase|mitochondrial E3 ubiquitin ligase 1|mitochondrial ubiquitin ligase activator of NF-kB|mitochondrial ubiquitin ligase activator of NFKB 1|mitochondrial-anchored protein ligase|putative NF-kappa-B-activating protein 266|ring finger protein 218 protein-coding 1318053 MUM1 melanoma associated antigen (mutated) 1 16344560,14702039,12477932,11042152,8889548,7644523,20347427 84939 BC144138,BC144147,BG723598,BI553935,BQ071619,BQ895780,BU541563,BU741593,CR457395,CR617170,DA739708,DN993266,U20896,U20897,NM_032853,NR_024247,AC004623,AC005329,CH471139,U20908,AF151045,AK025936,AK027774,AK075241,AK309092,AK310721,AL360266,BC001806,BC008098,BC019585,BC021016,BC082987,BC110874,BC130443 AAI44139,CAG33676,AAC50239,AAC50240,Q13108,Q13110,Q2TAK8,AAI30444,NP_116242,EAW69509,EAW69511,EAW69512,EAW69513,EAW69514,AAC50238,AAF36131,BAB15287,BAB55357,BAC11493,CAB96179,AAH08098,AAH82987,AAI10875 Hs.515016 EXPAND1|FLJ14868|FLJ22283|HSPC211|MGC131891|MGC163315|MUM-1 PWWP domain-containing protein MUM1|melanoma ubiquitous mutated protein|mutated melanoma-associated antigen 1|protein expandere protein-coding 1349980 MUM1L1 melanoma associated antigen (mutated) 1-like 1 15146197,16344560,18029348,15772651,15489334,14702039,12477932 139221 AA412505,CN369699,DA720504,DB445635,NG_016639,NM_001171020,NM_152423,AL135922,CH471120,Z68289,AK056478,AK090835,BC031229,BC109292,BC109293 NP_001164491,NP_689636,EAX02743,EAX02744,CAI41998,BAB71194,BAC03529,AAH31229,Q5H9M0 Hs.592221 FLJ33516|MGC129994|MGC129995 MUM1-like protein 1|OTTHUMP00000023780|OTTHUMP00000023781|PWWP domain-containing protein MUM1L1|mutated melanoma-associated antigen 1-like protein 1 protein-coding 1605676 MUPCDH mucin-like protocadherin This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternative splicing has been identified, with observed variation resulting in the presence or absence of domains. In addition, splicing occurs in the 5' UTR but transcripts including these variations have not been described completely. [provided by RefSeq] 16344560,16335952,14702039,12975309,12589428,12477932,12167596,11031102,10817752,10801787,19913121,20628086 53841 NM_021924,AF258674,AP006284,CH471158,AF258675,AF258676,AF258677,AF258678,AF258679,AF276242,AF301909,AI640262,AK000226,AK000384,AK025012,AK300991,AK308040,AK309157,NM_031264,AW137262,AY358368,BC038405,BC107063,DA373160,AA975851,NM_001171968 NP_112554,NP_068743,AAG16730,AAG16731,EAX02361,EAX02362,EAX02363,EAX02364,EAX02365,EAX02366,EAX02367,AAG16732,AAG16733,AAG30821,AAG33495,BAA91021,BAA91130,BAB15052,BAG62610,AAQ88734,AAH38405,Q58EZ6,Q9HBB8,NP_001165439 Hs.165619 FLJ20219|MU-PCDH|MUCDHL|MUPCDH OTTHUMP00000162884|cadherin-related family member 5|mu-protocadherin|mucin and cadherin-like protein protein-coding 1606650 MURC muscle-related coiled-coil protein 18508909,18332105,12477932,8889549 347273 NM_001018116,AL354917,AA192639,AK300099,BC090888,EU487253 NP_001018126,BAG61900,AAH90888,ACA62935,Q5BKX8 Hs.99004 muscle-related coiled-coil protein|muscle-restricted coiled-coil protein protein-coding 1323679 MUS81 MUS81 endonuclease homolog (S. cerevisiae) 1580863 18841572,18413719,18310322,18054789,17934473,17903171,17555773,16456034,16344560,15805243,15489334,14702039,14638871,14617801,12721304,12686547,12477932,12374758,11741546,11073977,9373149,8125298,19363487,19124506,19017809,18852298,19714462,20610542,19595721,19596235,19596236,20522537,20800603 80198 NM_025128,AP001201,AP001266,CH471076,AF425646,AK024665,AK095326,AK126820,AK223564,AL353934,BC009999,BI816797,CR601399,CR604400,DA449863 Q53ES5,Q659C2,Q96NY9,NP_079404,EAW74453,EAW74454,AAL28065,BAB14953,BAG54375,BAD97284,CAH56369,AAH09999 Hs.288798 FLJ21012|FLJ44872|SLX3 SLX3 structure-specific endonuclease subunit homolog|crossover junction endonuclease MUS81|mus81 endonuclease homolog (yeast) protein-coding 731781 MUSK muscle, skeletal, receptor tyrosine kinase Intercellular communication is often mediated by receptors on the surface of one cell that recognize and are activated by specific protein ligands released by other cells. Members of one class of cell surface receptors, receptor tyrosine kinases (RTKs), are characterized by having a cytoplasmic domain containing intrinsic tyrosine kinase activity. This kinase activity is regulated by the binding of a cognate ligand to the extracellular portion of the receptor. DeChiara et al. (1996) [PubMed 8653786] noted that the RTKs, known to be expressed in cell type-specific fashions, play a role critical for the growth and differentiation of those cell types. For example, members of the neural-specific TRK family that recognize nerve growth factor are absolutely required for the survival and development of discrete neuronal subpopulations, and the receptor tyrosine kinases TIE1 (MIM 600222) and TIE2 (MIM 600221) play a critical role in the development of normal blood vessels.[supplied by OMIM] 633425,1580863,2317084 20371544,7546737,18567856,18567855,18384168,18378885,18165682,17661994,17192614,17012237,16857268,16794080,15691710,15496425,15159418,12885777,12477932,11754179,10878022,10477765,9136771,8653786,8274451,16487930,16917026,17576800,19327804,19745065,19949040 633425,2317084 4593 NM_005592,AL157881,AL513328,CH471105,AA448972,AF006464,BC109098,BC109099,BG825304,Z25436,NG_016016,NM_001166280,NM_001166281 NP_005583,CAH69976,CAH69977,CAH69978,CAI17349,CAI17350,CAI17351,EAW59065,EAW59066,EAW59067,AAB63044,AAI09099,AAI09100,CAA80923,O15146,Q15457,ACE87789,ACE87790,ACT64447,NP_001159752,NP_001159753 Hs.521653 MGC126323|MGC126324 OTTHUMP00000021899|OTTHUMP00000021900|muscle, skeletal receptor tyrosine-protein kinase|muscle-specific kinase receptor|muscle-specific tyrosine-protein kinase receptor protein-coding 1352078 MUSTN1 musculoskeletal, embryonic nuclear protein 1 12477932,17519359,14718386 389125 NM_205853,AC099667,AJ276556,BC130550,BC130552,BX089772,CB043913,CR990075 NP_995325,CAC81756,AAI30551,AAI30553,Q8IVN3,ADR83456 Hs.556077 DKFZp686G21125|MUSTANG|Mustang OTTHUMP00000213872|OTTHUMP00000218921|musculoskeletal embryonic nuclear protein 1|musculoskeletal temporally activated novel protein-coding 1344450 MUT methylmalonyl Coenzyme A mutase This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq] 1580863 16281286,15781192,15643616,15489334,14718574,14654360,14574404,12477932,12402345,11528502,11350191,10923046,9554742,9503014,9285782,9242908,8990001,7912889,7909321,6124211,6102092,2907507,2881300,2453061,1980486,1977311,1670635,1351030,1346616,24458,2567699,19088183,18940555,17957493,17728257,17597648,17445044,17410422,17401587,17113806,16641088,16344560,19806564,20031578,20876572,20800603,20852008,20877624 4594 NG_007100,AL590668,CH471081,M37510,AB208845,AK292568,AK312611,BC016282,BT007434,BX647789,CA444307,DA777441,DB290266,M65131,NM_000255 NP_000246,CAI14311,EAX04329,EAX04330,EAX04331,AAA99226,BAD92082,BAF85257,BAG35498,AAH16282,AAP36102,AAA59569,P22033,Q59HB4 Hs.485527 MCM methylmalonyl Coenzyme A mutase|methylmalonyl-CoA isomerase|methylmalonyl-CoA mutase, mitochondrial protein-coding 1315693 MUTED muted homolog (mouse) This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene. [provided by RefSeq] 16341674,16344560,21044367,15102850,17618940,15489334,14574404,12923531,12576321,12477932,12191018,12019270,11912185,19615732,20562859 63915 AA653396,AK311385,BM829259,DA635930,NM_001199322,NM_001199323,NM_201280,AL023694,AL096800,CH471087,AF426434,AK025442,AK301142,BC032438,BC119644,BC119645,BX647336,CR749569 NP_001186251,NP_001186252,NP_958437,CAI21645,CAI20106,EAW55225,AAL99385,BAG62734,AAH32438,AAI19645,AAI19646,CAH18364,Q0VDJ6,Q8TDH9 Hs.719272 DKFZp686E2287|FLJ18427|MU OTTHUMP00000212220|protein Muted homolog protein-coding 731074 MUTYH mutY homolog (E. coli) This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1600191,1600201,1580863 20418187,10583946,11801590,7823963,19531215,19527492,19394335,19338676,19307499,19300419,19279422,19245865,19161591,19032956,19029194,19000687,18980800,18848840,18823566,18811933,18776649,18612690,18564191,18534194,18515411,18503156,18495334,18454351,18422726,18383848,18301448,18298557,18294051,18271935,18186383,18172263,18155253,18091433,18027849,18022921,17956577,17949294,17931073,17920897,17703316,17674103,17505512,17489848,17417778,17252231,17220334,17219385,17219200,17207658,17203305,17081686,17039270,17031395,16941501,16938257,16890597,15449173,15366000,15290654,15273732,15236166,15188161,15146197,15034862,20725929,20848659,16804517,16774938,16773329,16710414,16645203,16609022,16600130,16557584,16521226,16492928,16408224,16292541,16287072,16134146,16042573,15943555,15931596,15890374,15761860,15690400,15673720,15635083,15523092,16831587,15489334,15450125,14999774,14991577,14961129,12966098,12853198,12807753,12707038,12606733,12477932,12393807,12056405,11818965,11805113,11554314,11092888,10684930,10471731,9611236,8682794,3196692,3032244,19672709,16169070,18029348,19443904,19593690,19620482,19685280,19692168,19732775,19793053,19820168,19836313,19902366,19932167,19953527,20110747,20149637,20150366,20191381,20226869,20364408,20453000,20522537,20628285,20724227,20843780,20570909,20571908,20574454,20618354,20687945,20877624,20924072,20939750,21044966,21061173,21063410 1600191,1600201 4595 NM_012222,NM_001048171,NM_001048172,NM_001048173,NM_001048174,NG_008189,AB048788,AF527839,AL359540,CH471059,U63329,AB025227,NM_001128425,AB032920,AB032921,AB032922,AB032923,AB032924,AB032925,AB032926,AB032927,AB032928,AB032929,AK293830,AL560568,BC003178,BM926983,CN413115,CR589986,CR595712,CR601333,CR617363,HQ205466,HQ205468,HQ205469,HQ205470,HQ205472,HQ205473,HQ205474,HQ205475,HQ205476,HQ205477,HQ205479,HQ205480,HQ205481,HQ205482,HQ205483,HQ205484,HQ205485,HQ205486,HQ205487,HQ205488,HQ205489,HQ205490,HQ205491,HQ205492,HQ205493,HQ205494,HQ205495,HQ205496,HQ205497,HQ205498,HQ205499,HQ205500,HQ205501,HQ205502,HQ205503,HQ205505 NP_001121897,NP_036354,NP_001041636,NP_001041637,NP_001041638,NP_001041639,BAB86886,AAM78555,CAI21713,CAI21714,CAI21715,CAI21716,CAI21717,CAI21718,CAI21719,CAI21720,CAI21721,EAX06991,EAX06992,EAX06993,EAX06994,EAX06995,EAX06996,EAX06997,EAX06998,EAX06999,EAX07000,EAX07001,AAC50618,BAA84104,BAA89336,BAA89337,BAA89338,BAA89339,BAA89340,BAA89341,BAA89342,BAA89343,BAA89344,BAA89345,BAG57233,AAH03178,Q5T411,Q5T412,Q5T413,Q5T418,Q8TDZ3,Q9UIF7,Q9ULY0,ADP90934,ADP90935,ADP90936,ADP90937,ADP90938,ADP90944,ADP90945,ADP90946,ADP90947,ADP90948,ADP90949,ADP90950,ADP90951,ADP90952,ADP90953,ADP90954,ADP90955,ADP90956,ADP90957,ADP90958,ADP90964,ADP90965,ADP90966,ADP90967,ADP90968,ADP90969,ADP90970,ADP90971,ADP90972,ADP90973,ADP90974,ADP90975,ADP90976,ADP90977,ADP90978,ADP90979,ADP90980,ADP90981,ADP90982,ADP90983,ADP90984,ADP90985,ADP90986,ADP90987,ADP90988,ADP90989,ADP90990,ADP90991,ADP90992,ADP90993,ADP90999,ADP91000,ADP91001,ADP91002,ADP91003,ADP91004,ADP91005,ADP91006,ADP91007,ADP91008,ADP91009,ADP91010,ADP91011,ADP91012,ADP91013,ADP91014,ADP91015,ADP91016,ADP91017,ADP91018,ADP91019,ADP91020,ADP91021,ADP91022,ADP91023,ADP91024,ADP91025,ADP91026,ADP91027,ADP91028,ADP91029,ADP91030,ADP91031,ADP91032,ADP91033,ADP91034,ADP91035,ADP91036,ADP91037,ADP91038,ADP91039,ADP91040,ADP91041,ADP91042,ADP91043,ADP91044,ADP91045,ADP91046,ADP91047,ADP91048,ADP91049,ADP91050,ADP91051,ADP91052,ADP91053,ADP91054,ADP91055,ADP91056,ADP91057,ADP91058,ADP91059,ADP91060,ADP91061,ADP91062,ADP91063,ADP91064,ADP91065,ADP91066,ADP91067,ADP91068,ADP91069,ADP91070,ADP91071,ADP91072,ADP91073,ADP91074,ADP91075,ADP91076,ADP91077,ADP91078,ADP91079,ADP91080,ADP91081,ADP91082,ADP91083,ADP91084,ADP91085,ADP91086,ADP91087,ADP91088,ADP91089,ADP91090,ADP91091,ADP91092,ADP91093,ADP91094,ADP91095,ADP91096,ADP91097,ADP91098,ADP91099,ADP91100,ADP91101,ADP91102,ADP91103,ADP91104,ADP91105,ADP91106,ADP91107,ADP91108,ADP91109,ADP91110,ADP91111,ADP91112,ADP91113,ADP91114,ADP91115,ADP91116,ADP91117,ADP91118,ADP91119,ADP91120,ADP91121,ADP91122,ADP91123,ADP91129,ADP91130,ADP91131,ADP91132,ADP91133 Hs.271353 CYP2C|MGC4416|MYH A/G-specific adenine DNA glycosylase|OTTHUMP00000009098|OTTHUMP00000009102|hMYH protein-coding 736074 MVD mevalonate (diphospho) decarboxylase The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq] 1300048,1580863,2316857 8626466,18823933,18660489,15489334,12646231,12477932,8769113,16169070,12736493,11792727,14680974,14972328,9270019,19913121,20628086 2316857 4597 NM_002461,AC116552,CH471184,AB209229,AY203927,BC000011,BT006930,U49260 NP_002452,EAW66790,EAW66791,EAW66792,BAD92466,AAP34450,AAH00011,AAP35576,AAC50440,P53602,Q59G80,Q6XYE3,ABM92179,ABM84650 Hs.252457 FP17780|MPD MDDase|diphosphomevalonate decarboxylase|mevalonate pyrophosphate decarboxylase|mevalonate pyrophosphate decarboxylase protein-coding 732031 MVK mevalonate kinase This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] 1300048,1600528,1580863,2316857 12444096,11313769,11313768,11111075,10417275,10401001,10369262,9464248,9392419,9325256,9146921,8302606,6255462,1356376,20159775,20864672,18029348,20714348,20972250,16189514,10369261,1377680,19487539,19148283,19060906,18941711,18660489,18512793,18494797,18302342,18193043,17978300,17213252,16806233,16234278,15536479,15489334,15188372,15037710,14749336,14730012,14702039,12634869,12477932,12477733,14680974,19605566,20160193,20194276,20430392,20814828,20677014 1600528,2316857 4598 AK295338,AK315678,BC016140,CR593675,CR596805,CR622040,CR622427,DC421549,M88468,NM_000431,NM_001114185,NG_007702,AC007570,AF033345,AF217535,CH471054,FJ515860,AB209722,AF217536,AK023087,AK293130 BAH12037,BAG38043,AAH16140,AAB59362,Q03426,Q59ET9,ABM82015,ABM85197,NP_000422,NP_001107657,AAF82407,EAW97870,EAW97871,EAW97872,EAW97873,ACS13750,ACS13751,BAD92959,AAF82406,BAH11458 Hs.130607 FLJ96772|LRBP|MK|MVLK LH receptor mRNA-binding protein|mevalonate kinase|mevalonate kinase 1 protein-coding 732476 MVP major vault protein This gene encodes the major vault protein which is a lung resistance-related protein. Vaults are multi-subunit structures that may be involved in nucleo-cytoplasmic transport. This protein mediates drug resistance, perhaps via a transport process. It is widely distributed in normal tissues, and overexpressed in multidrug-resistant cancer cells. The protein overexpression is a potentially useful marker of clinical drug resistance. This gene produces two transcripts by using two alternative exon 2 sequences; however, the open reading frames are the same in both transcripts. [provided by RefSeq] 20555386,19875192,16344560,7585126,18972317,18671966,18615555,18600231,18599112,18200595,17875533,17615361,17438350,17415755,17337707,17178862,17134750,16815308,16614510,16566920,16441665,16418217,16396496,16373071,15902504,15709737,15592455,15588985,15489334,15379935,15272088,15133037,14695705,14636345,12919388,12622134,12612883,12576456,12477932,12177006,11986944,11986335,11940320,11937269,11855821,11297743,11071864,10551828,10477748,10439368,10404077,9628887,9029166,8879378,8774142,8763338,7671223,15750632,19969624,21044367,18809583,19615260,18029348,19080004,19335069,19472297,19660100 9961 BM999583,BQ932800,BU151678,DA842337,DA940597,NM_017458,AC009133,AC120114,AJ238509,AJ238510,AJ238511,AJ238512,AJ238513,AJ238514,AJ238515,AJ238516,AJ238517,AJ238518,AJ238519,AJ291365,CH471238,NM_005115,AJ291366,AJ291367,AK293302,AK298238,AK301130,AK302052,AK310168,BC008932,BC015623,CR618185,X79882 NP_005106,NP_059447,CAB55354,CAB55355,CAC35313,EAW79979,EAW79980,EAW79981,EAW79982,EAW79983,EAW79984,EAW79985,EAW79986,EAW79987,CAC35314,CAC35316,BAG56823,BAG60505,BAG62723,BAG63442,AAH15623,CAA56256,Q14764,ABM87351,ABW03877 Hs.632177 LRP|VAULT1 lung resistance-related protein|major vault protein protein-coding 1353561 MX1 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) In mouse, the interferon-inducible Mx protein is responsible for a specific antiviral state against influenza virus infection. The protein encoded by this gene is similar to the mouse protein as determined by its antigenic relatedness, induction conditions, physicochemical properties, and amino acid analysis. This cytoplasmic protein is a member of both the dynamin family and the family of large GTPases. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 17845304,17570575,17374778,17307214,17177148,17126411,17075576,16978069,16894313,16843495,16824203,16792864,16769349,16595158,16459719,16390004,16344560,16168514,15850793,15766558,15602733,15489334,15221897,15163707,15135736,15117331,15063762,15047845,14872030,14752052,14702039,14687945,12944978,12867637,12595530,12539042,12477932,16704297,12447867,11916975,11911186,11847228,11805446,11716541,10971132,10830953,10590150,9735310,9373149,9093949,9060610,8798556,8125298,2607176,2481229,2161946,1674496,1629950,1548781,14499622,20959021,2154602,15757897,9389754,16780588,19434718,19297326,19236454,19177264,19109387,18843779,18782441,18676680,18668195,18549400,17947524,17407708,20428112,19170196,19462904,19625176,19625466,19635103,19692168,19744071,19817957,20019841,20237496,20331378,20462354,20921509,20588308,20628624 4599 NM_002462,AC005612,AF135187,AL163285,AL773570,AL773577,AL773578,AP001610,CH471079,L35664,L35666,L35669,L35671,L35672,L35673,AK093008,AK096355,AK225885,AK315465,NM_001144925,AY186254,BC014222,BC032602,BC052255,CR592170,CR595895,DA351922,DA726666,EB388095,M30817,M33882,A00209,NM_001178046,NG_027788 NP_001138397,NP_002453,AAD43063,CAB90556,EAX09600,EAX09601,EAX09602,EAX09603,EAX09604,BAC04017,BAG53272,BAG37852,AAO31807,AAH14222,AAH32602,AAA36337,AAA36458,P20591,Q86YP5,Q8NAA8,Q96CI3,CAA00041,NP_001171517 Hs.517307 IFI-78K|IFI78|MX|MxA OTTHUMP00000109250|interferon inducible protein p78|interferon-induced GTP-binding protein Mx1|interferon-induced protein p78|interferon-regulated resistance GTP-binding protein MxA|myxovirus resistance protein 1 protein-coding 1351068 MX2 myxovirus (influenza virus) resistance 2 (mouse) The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq] 1580863 2481229,2154602,8798556,19236454,18517045,17702266,15489334,14702039,12477932,10830953,9405443,9208807,3162334,20237496,20331378,18029348,19913121,20628086 4600 NM_002463,AC004497,AC004508,AL163285,AL773578,CH471079,AK122952,AK127895,AK298780,AK308060,AY312582,BC035293,CR600045,M30818,M33883 NP_002454,AAC08451,AAC08448,CAB90555,EAX09605,EAX09606,EAX09607,BAH12869,AAH35293,AAA36338,AAA36459,P20592,Q75MY7,Q75MY8,ABM83042,ABM86237 Hs.926 MXB interferon-induced GTP-binding protein Mx2|interferon-regulated resistance GTP-binding protein MXB|myxovirus resistance protein 2|p78-related protein|second interferon-induced protein p78 protein-coding 1353608 MXD1 MAX dimerization protein 1 MAX dimerization protein belongs to a subfamily of MAX-interacting proteins. This protein competes with MYC for binding to MAX to form a sequence-specific DNA-binding complex, acts as a transcriptional repressor (while MYC appears to function as an activator) and is a candidate tumor suppressor. [provided by RefSeq] 10593926,11370785,12366697,15282543,15645079,17418410,17577784,18451027,19766114,16140957,10229200,8425218,7829091,18029348,18203738,18155722,17998413,17082780,15815621,15489334,12824180,12553908,12538578,12477932,11602341,11430826,11031250,9528857,9150134,9150133,8290278,7889570,11230181,10918583,12391307,11101889,15235594,11106735,18457265,19526459,19762557 4084 NM_002357,AC019206,CH471053,AK301088,AK312734,BC036402,BC051693,BC069377,BC069433,BC098396,BC113531,BC117260,BC143831,BC143832,BC144601,CR536495,CR541692,L06895 NP_002348,AAY14867,EAW99838,EAW99839,BAH13406,BAG35605,AAH69377,AAH69433,AAH98396,AAI13532,AAI17261,AAI43832,AAI43833,CAG38734,CAG46493,AAA36194,Q05195,ADR83500 Hs.468908 MAD|MAD1|MGC104659|bHLHc58 MAD protein (MAX-binding protein)|OTTHUMP00000202211|max dimerization protein 1|max dimerizer 1 protein-coding 734323 MXD3 MAX dimerization protein 3 This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq] 16341674,18235219,17893326,16908182,16189514,15489334,14702039,12477932,9506959,9373149,8521822,8125298,9184233,10918583,10593926,10229200,9528857 83463 BU620484,NM_031300,AC146507,CH471195,AF114834,AK057034,AK092842,AK222579,AK303397,AK316468,AL522759,BC000745,BC032586,BC041690,BM849150,NM_001142935,CR595562,CR613684,CR626344,AL833959 ABM83660,NP_001136407,NP_112590,EAW85016,EAW85017,EAW85018,EAW85019,EAW85020,AAP97233,BAB71352,BAC03987,BAD96299,BAG64453,BAH14839,AAH00745,AAH32586,Q05BW2,Q8NAD6,Q9BW11,CAD38809,ABM86907,ABM87212 Hs.726161 BHLHC13|FLJ35523|MAD3|MGC2383|MYX Max-associated protein 3|Max-interacting transcriptional repressor MAD3|OTTHUMP00000223596|OTTHUMP00000223598|class C basic helix-loop-helix protein 13|max dimerization protein 3|max dimerizer 3 protein-coding 1312919 MXD4 MAX dimerization protein 4 This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq] 1580863 8521822,16167342,15862967,15815621,15489334,15469726,14702039,12477932,12418961,11230181,10593926,11073985,10229200,9528857 10608 NM_006454,AL158068,CH471131,Z49250,Z68282,AF040963,AF082740,AF187724,AK024501,AK026392,BC002713,BC028340,BC068060,BT019969,BT019970 NP_006445,CAM20460,EAW82530,EAW82531,EAW82532,EAW82533,EAW82534,EAW82535,EAW82536,CAA89217,AAB97009,AAF98553,AAQ13695,BAB15791,AAH02713,AAH68060,AAV38772,AAV38773,Q14582,Q7Z2R2,Q9BUD5,Q9H7H9 Hs.655020 MAD4|MST149|MSTP149|bHLHc12 Mad4 homolog|class C basic helix-loop-helix protein 12|max dimerization protein 4|max dimerizer 4|max-associated protein 4|max-interacting transcriptional repressor MAD4 protein-coding 736546 MXI1 MAX interactor 1 Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq] 1298988,1600205,1600204,1580863 8425219,9624006,19254710,19018165,19010793,17697116,17577784,17452451,17102621,16126174,15809730,15476185,15467743,15164054,15121849,14559981,12477932,11875718,11498788,10497252,10470286,9669667,9528857,8918230,8889548,8838813,8290278,7959753,7954804,7889571,7789959,16189514,10593926,10229200,9184233,11351349,16385451,18457265,7565735 1298988,1600205,1600204 4601 NM_130439,NM_001008541,NM_005962,NG_012103,AL360182,AY576484,CH471066,S78470,U32512,U32513,U32514,U32515,AA640393,AA854855,AI373426,AI580132,AK303949,AK307090,AK309718,AL538051,AW291670,BC012907,BC016678,BC035128,BF056857,BG700036,BM668806,BM927870,BQ924073,BT007069,BX417051,CB960506,CF594363,CR536576,CR594058,CR616482,D63940 NP_569157,NP_001008541,NP_005953,CAI15474,CAI15475,CAI15476,CAI15477,CAI15478,CAI15479,CAI15480,AAT84074,EAW49565,EAW49566,EAW49567,EAW49568,EAW49569,EAW49570,AAD14282,AAC50446,BAG64876,AAH12907,AAH35128,AAP35732,CAG38813,BAA09972,P50539,Q5V9L6,Q96E53,ABM82590,ABM85777 Hs.602078,Hs.501023 MAD2|MGC43220|MXD2|MXI|bHLHc11 MAX dimerization protein 2|Max-related transcription factor|OTTHUMP00000020465|OTTHUMP00000020466|OTTHUMP00000020470|OTTHUMP00000020471|OTTHUMP00000020472|OTTHUMP00000020473|class C basic helix-loop-helix protein 11|max interacting protein 1|max-interacting protein 1 protein-coding 1351646 MXRA1 matrix-remodelling associated 1 54594 1348886 MXRA2 matrix-remodelling associated 2 54593 1350968 MXRA3 matrix-remodelling associated 3 54592 1348274 MXRA4 matrix-remodelling associated 4 54591 1344277 MXRA5 matrix-remodelling associated 5 15609104,15489334,15203218,12477932,12101425 25878 NM_015419,AC004616,CH471074,AF245505,AL049946,BC011846,BC064986,BC080586,CD626974,NG_021336 NP_056234,EAW98724,AAF86402,CAB43220,AAH11846,AAH64986,AAH80586,Q9NR99 Hs.369422 DKFZp564I1922 OTTHUMP00000022860|adhesion protein with leucine-rich repeats and Immunoglobulin domains related to perlecan|adlican|matrix-remodeling-associated protein 5 protein-coding 1626570 MXRA5P matrix-remodelling associated 5 pseudogene 12815422 286544 NG_002806,AC011302 ADLICANP|MXRA5P pseudo 1353240 MXRA6 matrix-remodelling associated 6 12477932 54589 Q7Z2G4,Q7Z2S0 BC063142,AF172820,AF173897,AF176917 AAQ13614,AAQ13644,AAQ13661,Q7Z2G4,Q7Z2S0 Hs.471381 DKFZp586K0617|MST091|MST122|MST127|MSTP091|MSTP122|MSTP127 protein-coding 1348883 MXRA7 matrix-remodelling associated 7 16625196,15489334,14702039,12477932 439921 NM_001008528,NM_198530,NM_001008529,AC005837,AY646229,CH471099,AK097108,AK123486,AK127801,AK128460,AW131567,AW888225,AY426672,BC053983,BC094776,BE205810,BE502793,CA422561,CB993617,CR608878,CR610996 NP_001008528,NP_940932,NP_001008529,AAT66918,EAW89425,EAW89426,EAW89427,EAW89428,BAC87451,AAR88426,AAH53983,P84157,Q6DTV5,Q6ZR64 Hs.250723,Hs.597019 FLJ41492|FLJ46603|PS1TP1|TMAP1 HBV PreS1-transactivated protein 1|matrix-remodeling-associated protein 7|transmembrane anchor protein 1 protein-coding 1346231 MXRA8 matrix-remodelling associated 8 14702039,14603461,12975309,12477932,9373149,8125298 54587 CS373734,NM_032348,AL139287,CH471183,AB052096,AK027269,AK095966,AK225028,AK293442,AK304615,AK315510,AL050202,AY358391,BC006213,BC017312,CR592046 CAL33853,NP_115724,CAI23188,CAI23189,EAW56220,EAW56221,EAW56222,EAW56223,BAD05132,BAB55010,BAG53178,BAG56945,BAG65397,AAQ88757,AAH06213,AAH17312,Q9BRK3 Hs.515687 DKFZp586E2023|MGC3047 limitrin|matrix-remodeling-associated protein 8 protein-coding 1353717 MYADM myeloid-associated differentiation marker 1302485,1580863 17097684,16303743,15900300,15489334,15146197,14702039,12975309,12477932,12075932,10733104 1302485 91663 NM_001020819,NM_138373,NM_001020821,NM_001020818,AC008440,CH471135,CQ783403,CQ859714,AF087882,AI074232,AK027693,AK075276,AK093999,AK294400,NM_001020820,AK316566,AL357205,AY037147,AY358582,BC013995,BC095412,CN277531,CN284532,CR599377 NP_001018656,NP_001018655,NP_612382,NP_001018657,NP_001018654,EAW72159,EAW72160,CAF86608,CAH25907,AAP97182,BAB55302,BAC11513,BAC04265,BAG57653,BAG38155,AAK67628,AAQ88945,AAH13995,AAH95412,Q96S97 Hs.380906 SB135 OTTHUMP00000067225|OTTHUMP00000067285|OTTHUMP00000067286|OTTHUMP00000197721|myeloid upregulated protein|myeloid-associated differentiation marker protein-coding 1605571 MYADML myeloid-associated differentiation marker-like 16344560,14702039,12477932 151325 NR_003143,AC093393,CH471053,AK057470,BC031088,BC038980,DB059579 AAY24031,EAX00429,BAB71502 Hs.528847 pseudo 2303467 MYADML2 myeloid-associated differentiation marker-like 2 12477932,11181995,8889548 255275 NM_001145113,AC137723,AC145207,CH471099,BC029306,BM674638 NP_001138585,EAW89727,A6NDP7 Hs.163451 OTTHUMP00000205585|myeloid-associated differentiation marker-like protein 2 protein-coding 1349179 MYB v-myb myeloblastosis viral oncogene homolog (avian) This gene encodes a transcription factor that is a member of the MYB family of transcription factor genes. The protein contains three domains, an N-terminal DNA-binding domain, a central transcriptional activation domain and a C-terminal domain involved in transcriptional repression. This protein plays an essential role in the regulation of hematopoiesis and may play a role in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 15082531,16799563,2189102,3014652,19427836,19198610,19148297,19036881,18818702,18818396,18765672,18667698,18667440,18498763,18476782,18408764,18195038,18093978,18070937,17712044,17690249,17670747,17599807,17452517,17435759,17363689,17242210,17095623,16977606,16861354,16797705,16631597,16597594,16461764,16299810,15927960,15778089,15747776,15687240,15509555,15489334,15221349,15187020,15169551,12927788,12631292,12529244,12477932,12424255,12370369,12196545,11973331,11896618,11848471,11792321,11781241,11779867,11313925,10747903,10656693,10378697,10318867,10233885,9823328,9809063,9566892,9447996,8960373,8756344,8329139,8302594,8302584,7784067,7688794,7584027,3540945,3007038,2687764,2202948,1944282,10660576,10619021,11423988,15194430,15308626,15691758,11244510,15209511,17077080,19615744,19646965,19696200,19737967,19820697,19843942,19860791,19862010,19924444,20093773,20142358,20183929,20472475,16055500,19841262,18945670,20211142,20647765,20927387,21068433,20524209,18708755,20027603,20484083,20622260,20547751,20686118,21164292,19853236,20139978,19913121,20531406,20628086,20816195 4602 NM_001130173,NM_001130172,NM_005375,NM_001161656,NM_001161657,NM_001161658,NM_001161659,NM_001161660,NG_012330,AL023693,CH471051,M95584,U22376,AY787460,AY787461,AY787462,AY787463,AY787464,AY787465,AY787466,AY787467,AY787468,AY787469,AY787470,AY787471,AY787472,AY787473,AY787474,AY787475,BC035996,BC064955,D25774,M13665,M13666,M15024,X17469,X52125,X52126,AF104863,AJ606317,AJ606318,AJ606319,AJ606320,AJ606321,AJ606322,AJ606323,AJ606324,AJ616235,AJ616791,AJ616805,AY787443,AY787444,AY787445,AY787446,AY787447,AY787448,AY787449,AY787450,AY787451,AY787452,AY787453,AY787454,AY787455,AY787456,AY787457,AY787458,AY787459,FB659824,GU324928,HH970061 Q708E5,Q708E6,Q708E8,Q708E9,Q708J0,Q70AC3,Q9UMI7,NP_001123645,NP_001123644,NP_005366,NP_001155128,NP_001155129,NP_001155130,NP_001155131,NP_001155132,CAI20197,CAI20198,CAI20199,CAI20200,EAW47967,EAW47968,EAW47969,EAW47970,EAW47971,EAW47972,EAW47973,EAW47974,EAW47975,EAW47976,EAW47977,EAW47978,AAA72118,AAH64955,AAA52030,AAA52031,AAA52032,CAA35503,CAA36371,CAA36372,P10242,Q14025,Q5THS4,Q5THS5,Q708E1,Q708E2,Q708E3,AAB49034,AAB49035,AAB49036,AAB49037,AAB49038,AAB49039,AAC96326,CAE55168,CAE55169,CAE55170,CAE55171,CAE55172,CAE55173,CAE55174,CAE55175,CAE82649,CAF04477,CAF04478,CAF04479,CAF04480,CAF04481,CAF04482,CAF04483,CAF04484,CAF04485,ADL14499,CAS01767,CBX51725 Hs.606320 Cmyb|c-myb|c-myb_CDS|efg OTTHUMP00000017259|c-myb protein (140 AA)|c-myb10A_CDS|c-myb13A_CDS|c-myb14A_CDS|c-myb8B_CDS|proto-oncogene c-Myb|transcriptional activator Myb protein-coding 69133 MYBBP1A MYB binding protein (P160) 1a 19279220,19321449,10644447,19276281,18660489,18059336,17196614,17081983,16964243,16565220,15635413,15489334,15302935,14744933,14702039,14676191,12477932,12429849,12171929,11790298,11779876,11230166,9447996,8889548,8302594,17353931,10607837,16413759,17255935,19928837,20085707,20177074 10514 NM_014520,NM_001105538,AC118754,CH471108,AF147709,AK095205,AK293458,AK301622,AK303150,AK307948,AL133098,AL136595,AY093673,BC000641,BC050546,BF111023,CB243989,DC346952 NP_055335,NP_001099008,EAW90435,EAW90436,EAW90437,AAF33021,BAG56953,BAG63107,BAG64253,CAB61409,CAB66530,AAM44451,AAH00641,AAH50546,Q8NEW2,Q9BQG0,ACE87675 Hs.22824,Hs.724331 FLJ37886|P160|PAP2 myb binding protein 1a|myb-binding protein 1A|p53-activated protein-2 protein-coding 1315840 MYBL1 v-myb myeloblastosis viral oncogene homolog (avian)-like 1 1580863 8058310,18029348,12477932,7987850,7821437,3060855,2065336,10660576,9210395 4603 NM_001144755,NM_001080416,AC083928,CH471068,AK308490,BC101186,BC101187,BC101188,CN482561,S75881,X13294,X66087 NP_001138227,NP_001073885,EAW86912,EAW86913,AAI01187,AAI01189,AAB32716,CAA31656,CAA46886,P10243,Q495F9,Q495G0,Q6LD85 Hs.445898 A-MYB|AMYB|MGC120059|MGC120061 myb-like protein 1|myb-related protein A|v-myb avian myeloblastosis viral oncogene homolog-like 1 protein-coding 1318263 MYBL2 v-myb myeloblastosis viral oncogene homolog (avian)-like 2 The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Transcript variants may exist for this gene, but their full-length natures have not been determined. [provided by RefSeq] 1580863 10770937,19383908,19043454,19016757,18676680,18026132,17588787,17563750,17159899,17098733,17081983,16551698,16476973,15618219,15489334,15302935,15256398,14769798,14506250,12947099,12927788,12673206,12645566,12477932,12475768,12439743,11997503,11973331,11780052,11733503,11522824,11423988,11264176,11259168,10871850,10744766,10656684,10645009,10593981,10544265,10095772,9840932,9373149,9012818,8812502,8314782,8142646,8125298,8123011,8062924,7642110,3060855,1984793,1717494,1376749,12748276,10766737,20211142,20857481,19170196,19625176,19692168,19821490 4605 NM_002466,AL121886,CH471077,X82032,AK223482,AK303249,AK314791,BC007585,BC053555,BU178833,BX647151,CR591125,CR593650,CR598128,CR600287,CR620461,X13293 NP_002457,CAC08392,EAW75951,CAA57552,BAD97202,BAH13925,BAG37322,AAH07585,AAH53555,CAA31655,P10244,Q53F07,ABM84448,ABM86871 Hs.179718 B-MYB|BMYB|MGC15600 myb-like protein 2|myb-related protein B|v-myb avian myeloblastosis viral oncogene homolog-like 2 protein-coding 1351602 MYBPC1 myosin binding protein C, slow type 1580863 20045868,20379614,8375400,1429890,16918501,16407297,16381901,16003462,15489336,14702039,12628722,12477932,12154082,11256614,11230166,11076863,9252413,8889549,7757816,3011605,15385448,16501887,19913121,20628086 4604 AL831993,AL832000,AL832332,AL832350,AL832354,AL832456,AL834249,BC015187,BC030980,BC065720,BC092418,BC117217,BC143495,BC143502,BC143503,BC143504,BQ942432,NM_206819,NM_206820,NM_206821,AC010205,AC090671,AC117505,CH471054,AA196860,AK056587,AK057284,AK292976,AK295727,AK296681,AK303401,AL589595,NM_002465,BX649073,CR609402,F01203,X66276,X73114,AL596726,BX499532 CAD89907,CAD91144,CAD38625,CAD91153,CAD91150,CAD89927,CAD38925,AAH65720,AAH92418,AAI17218,AAI43496,AAI43503,AAI43504,AAI43505,NP_002456,NP_996555,NP_996556,NP_996557,EAW97663,EAW97664,EAW97665,EAW97666,EAW97667,EAW97668,EAW97669,EAW97670,EAW97671,EAW97672,BAG51755,BAF85665,BAG58568,BAG59277,BAH13954,CAH56129,CAA46987,CAA51545,Q00872,Q17RR7,Q569K7,Q63HJ3,Q6P096,Q86T39,Q86T42,Q86T48,Q86TA8,Q86TC8,Q8N3R4,CAL37612,ACE87348,ACE86664 Hs.654589 MYBPCC|MYBPCS|slow-type C-protein, skeletal muscle slow isoform|myosin-binding protein C, slow-type|skeletal muscle C-protein|slow MyBP-C protein-coding 1323136 MYBPC2 myosin binding protein C, fast type 1580863 8375400,18817784,18201573,17876814,12386147,12154082,9252413,8889549,12477932,19913121,20628086,20605413 4606 NM_004533,AC020909,CH471135,AA086285,BC130536,BC136389,CF552888,CF553029,X73113,NG_028026 NP_004524,EAW71865,EAW71866,AAI30537,AAI36390,CAA51544,Q14324,ADR83290 Hs.85937 MGC163408|MYBPC|MYBPCF C-protein, skeletal muscle fast isoform|fast MyBP-C|fast-type muscle myosin-binding-protein C|myosin-binding protein C, fast-type protein-coding 1314284 MYBPC3 myosin binding protein C, cardiac MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq] 1580232,1580233,1580234,1580235,1580236,1580237,1580238,1580239,1580863 21088121,16344560,16199542,16087648,16004897,15769446,15737656,15671604,15582318,15563892,15519027,15213454,15114369,15000344,14563344,12974739,12951062,12818575,12787675,12721663,12707239,12628722,12379228,12358155,12202917,12110947,11955864,11499719,11499718,10736283,10672519,10521296,17192269,15601779,7493025,11815426,15166115,19574547,19356534,19293840,19273718,19151713,19150014,19149795,19035361,18957093,18929575,18803133,18802026,18573260,18560154,18513529,18467358,18403758,18383048,18374358,18337725,18273486,17937428,17560599,16754800,16651346,16566405,9742053,9614495,9562578,9541115,9541104,9218526,9048664,8791411,8631348,8358441,7744002,7493026,6448079,352343,10424815,10024460,10347086,12386147,12477932,14968112,16052631,19403693,19406073,19666645,19808356,19850579,19853701,19875404,20019025,20021930,20031618,20128375,20193176,20201939,20215591,20359594,20378854,20379614,20414521,20433692,20474083,20151718,20689143,20350521,19913121,20379391,20624503,20628086,20800588,20975235 1580232,1580233,1580234,1580235,1580236,1580237,1580238,1580239 4607 GU324918,NM_000256,NG_007667,AC090582,AY518390,CH471064,U91629,Y10129,AJ708511,AJ708699,AK291569,AK297843,AL691822,AU140784,BC136543,BC136546,BC142685,BC151211,DA563514,EF560722,EU747718,EU747719,S80778,S80782,X84075 ADL14489,NP_000247,AAR89909,EAW67927,EAW67928,EAW67929,AAC04620,CAA71216,BAF84258,BAG60177,AAI36544,AAI36547,AAI42686,AAI51212,ABQ59032,ACH92816,ACH92817,AAB35662,AAB35663,CAA58882,Q13659,Q14896 Hs.524906 CMH4|DKFZp779E1762|FHC|MYBP-C C-protein, cardiac muscle isoform|cardiac MyBP-C|myosin-binding protein C, cardiac|myosin-binding protein C, cardiac-type protein-coding 734272 MYBPH myosin binding protein H 1580863 19536175,8486381,15489334,12477932,12154082,10024460 4608 NM_004997,AC105940,CH471067,L05607,U27266,BC044226,L05606 NP_004988,EAW91466,AAA02904,AAB86737,AAH44226,AAA36339,Q13203 Hs.927 H-protein|myBP-H|myosin-binding protein H|norvegicus myosin binding protein h protein-coding 1606910 MYBPHL myosin binding protein H-like 12477932 343263 NM_001010985,AL390252,CH471122,AK129834,BC108664,BC132900,BC132902,BC144471 NP_001010985,CAI13179,EAW56378,EAW56379,AAI32901,AAI32903,AAI44472,A2RUH7,ADR83131 Hs.443402 myosin-binding protein H-like protein-coding 731438 MYC v-myc myelocytomatosis viral oncogene homolog (avian) The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini. The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. [provided by RefSeq] 1580901,1580863,1601453 20378577,6419122,6414718,6324175,6321164,6304729,6304538,6298632,3778453,3540591,3277717,3243428,3033665,2834731,2663470,2430795,2006410,1914517,1748630,1597196,20487546,20493879,20509972,11306501,11844794,11877042,11891322,12196529,12776737,15572685,15839202,16247449,1651323,17072308,17157259,17314511,17401363,17401366,17418410,17419941,17419945,17632056,17877160,17927853,18291362,18851746,18923429,19170196,19351506,19387923,19395026,19398483,19453846,19454499,19481339,19497851,19535347,19549807,19560862,19561607,19564413,19568426,19581307,19586553,19596917,19597184,19625176,19633646,19672269,19673870,19684017,19690609,19692168,19700410,19704118,19729955,19730683,19740707,19748357,19755676,19766114,19773279,19787269,19815507,19818711,19821490,19855079,19881537,19895682,19900447,19908297,19923826,19934275,19956635,19966299,19966300,19996270,20008140,20008325,20010808,20010876,20063409,20065031,20071475,20086171,20087644,20113841,20118770,20133585,20133671,20144848,20170530,20173740,20190818,20194507,20212154,20215511,20232342,20379146,20402410,20423888,20434984,20442643,7565735,8247524,16140957,19843847,20596624,20852628,20936779,21059911,19126644,20643075,20852632,11793365,20691906,11182042,15498494,16878156,19578763,20714214,20956327,21048031,20579853,20878079,17486099,17485441,17482131,17466981,17466258,17452451,17445886,17444495,17431415,17404512,17404030,17363738,17310999,17297307,17268552,17264126,17170079,17159920,17158641,17151361,17146439,17146437,17145812,17141659,17114293,17093053,17082780,17082179,17081983,17070983,17050536,17046748,17028906,17001014,16996503,16984727,16964280,16940161,16874304,16857742,16809765,16797278,16788099,16785237,16724113,16706751,16690525,16682952,16675879,16631470,16628215,16596619,16582589,16572399,16554306,16552729,16543245,16541139,16537801,16537449,16508012,16490593,16478988,16466700,16432227,16423995,16410805,16410719,16378632,16376880,16367922,16352593,16328057,16316993,16308474,16295419,16293596,16287840,16269333,16260605,16210249,16205115,16201965,16174239,16173081,16172399,16169462,16167342,16139224,16126174,16116477,16107734,16107691,16094360,16085756,16007143,15992821,15991278,15988031,15986448,15972952,15965094,15944709,15937962,15929079,15878876,15856024,15800668,15769738,15763593,15756435,15743499,16423996,15287031,15286700,15282543,15243561,15199147,15199070,15198123,15192039,15191563,15190416,15160911,15126105,15108364,15083194,15077166,15071503,15067010,14991929,14769798,14760071,14744757,14724288,14697225,14672406,14663583,14663479,14645547,14645543,14625288,14576301,14532990,12970749,12944920,12909717,12873812,12855588,12842909,12829833,12824159,12821782,12818373,12808131,12783888,12776177,12748187,12729735,12721301,12688321,12673205,12660246,12646176,12644583,12637527,12637327,12575534,12562237,12545156,12538578,12529648,12509468,12490316,12477932,12452058,12446731,12435808,12420224,12394763,12379776,12362975,12360279,12356725,12237776,12226097,12213716,12209953,12177005,12149248,12130502,12082260,12080043,12077335,12072203,12049739,12036888,12032779,12031912,12027803,11968011,11960382,11956070,11916966,11909963,11877389,11877298,11861398,11850082,11848471,11848444,11840336,11839798,11817538,11804592,11795828,11777933,11602341,11567024,11443860,11311202,11282029,10899308,10551811,10446203,10421840,10319872,10229200,9797456,9792694,9788437,9689053,9680483,9461566,9315742,9312026,9187264,9129988,8755740,8668343,8386367,8377829,8266081,8220424,8076603,7957875,7838535,7729426,7651436,7642555,6714223,6578511,6547209,9308237,9708738,10597290,12706874,9924025,10962037,15994933,17765874,19596922,19594747,19574298,19573080,19562729,19549847,19524285,19470954,19461583,19407242,19364925,19336552,19332536,19331129,19330811,19330026,19287990,19276364,19270750,19259613,19219026,19211792,19204574,19202062,19180571,19176757,19174556,19170058,19164469,18393360,18382371,18381641,18375382,18369647,18365874,18349290,18348176,18348166,18345030,18323656,18321953,18320361,18314492,18308950,18297523,18292777,18262050,18256542,18256156,18247372,18242516,18240345,18235046,18216297,18206725,18206534,18204787,18190704,18157115,18089500,18085637,18084761,18066065,18060517,18059365,18059336,18026954,18024371,17993259,17989722,17959148,17917571,17913706,17908964,17885207,17881904,17881732,17873522,17822678,17785457,17785433,17784791,17766436,17728244,17726380,17706770,17704800,17700029,17699159,17698969,17670825,17656250,17643117,17634226,17622571,17616526,17613764,17606868,17599065,17597761,17587243,17573914,17568564,17567920,17560940,17558397,17541401,17525531,17503467,19147754,19143767,19134217,19131971,19119907,19118200,19111069,19087307,19086036,19084934,19061838,19061835,19033664,19022773,19022256,19022255,19020761,19020659,19017648,19008924,18987359,18985155,18953412,18950845,18937283,18932273,18852287,18838534,18818322,18818310,18816594,18813857,18813796,18809243,18808065,18794855,18782427,18780787,18776924,18754028,18752503,18752058,18722373,18714337,18713946,18679422,18677108,18676680,18647998,18642056,18632605,18628958,18628098,18623111,18621930,18597608,18593994,18586674,18567993,18566574,18562319,18559552,18556416,18544539,18542060,18535662,18498136,18490439,18483343,18460403,18451027,18433872,18426731,18426604,18413597,18408012,18398700,15739117,15723054,15723053,15716988,15697230,15688026,15674325,15663936,15645079,15629428,15601838,15595642,15580293,15542830,15528212,15522869,15516975,15489334,15474507,15468060,15459488,15457447,15361884,15355849,1318011,11208609,17646408,11046155,17353931,12584560,12553908,12391307,10918583,10611234,10593926,9528857,9184233,15210690,9207092,14612409,11274368,15098029,11283613,11509179,15616584,12091391,16023596,12149649,15910003,15808510,15780936,7892279,12857727,15502847,9155018,15735755,15084259,19602047,19696787,20233711,20498406,6431612,1559612,20515470,20598117,20453196,20551172,20221419,20562918,20348956,14559996,15103331,15150404,16455494,16705173,20300622,21059853,19857615,20520840,20573831,20634801,20659471,20662834,20564213,20697356,20962620,20972438,20647308,21036740 1580901,1601453 4609 HI574342,NG_007161,AC103819,AY214166,CH471060,D10493,J03253,K00534,K00535,K01906,L00058,M14206,M20605,X00196,X00364,X00676,AA807892,AK303921,AK312883,BC000141,BC000917,BC058901,BG499628,BK006467,BT019768,CR609560,CR618399,K02276,M13929,M13930,V00568,NM_002467,X66258,HC084226 CBX47660,NP_002458,AAO21131,EAW92098,EAW92099,EAW92100,EAW92101,BAA01374,BAA01375,AAA59887,ABW69847,AAA59880,AAA59881,AAA59882,AAA88090,AAA59886,CAA25015,CAA25105,CAA25106,CAA25288,BAG64849,BAG35731,AAH00141,AAH00917,AAH58901,DAA06340,AAV38573,AAA36340,AAA88091,AAA88092,AAA88093,AAA88094,CAA23831,CAA46984,P01106,Q14899,Q14901,Q16591,Q6LBK7,Q7KZ54,ABM85011,CBI12209 Hs.202453 MRTL|bHLHe39|c-Myc avian myelocytomatosis viral oncogene homolog|class E basic helix-loop-helix protein 39|myc proto-oncogene protein|myc-related translation/localization regulatory factor|proto-oncogene c-Myc|transcription factor p64|v-myc avian myelocytomatosis viral oncogene homolog 2292709,2292922,2292939,2292941,2292951,2292960,2292989,2293005 PRSTS2_H,PRSTS136_H,PRSTS140_H,PRSTS139_H,PRSTS141_H,PRSTS137_H,PRSTS138_H,PRSTS135_H protein-coding 1315945 MYCBP c-myc binding protein The MYCBP gene encodes a protein that binds to the N-terminal region of MYC (MIM 190080) and stimulates the activation of E box-dependent transcription by MYC.[supplied by OMIM] 1580863 9797456,17595061,16866877,15489334,12665801,12522145,12477932,12414807,12223483,11483602,16169070,12151104,20562918,19615732,20379614,20544396,8889548 26292 NM_012333,AL139260,CH471059,AB007191,AB451287,AB451419,AK311886,BC008686,BE502732,BT007109,BU601195,CR456936,CR595258,CR601874,CR608844,CR610721,CR613581,CR616182,CR620174,D50692,BQ437941,CN478752,NR_037632 NP_036465,CAI23050,EAX07290,EAX07291,EAX07292,BAA22408,BAG70101,BAG70233,BAG34827,AAH08686,AAP35773,CAG33217,BAA09338,Q6IB68,Q99417,ABM82417,ABM84624,ABM85616 Hs.591506,Hs.640268 AMY-1|FLJ41056 C-Myc-binding protein|associate of Myc 1|associate of myc-1 protein-coding 1323830 MYCBP2 MYC binding protein 2 1580863 17353931,19240061,19000755,17081983,15489334,15470080,15302935,15257286,15146197,15057823,14702039,14559897,12477932,12168954,11042152,10048485,9689053,15778465,15324660,15231748,19615732 23077 AC001226,AL159154,AL159158,AL359257,CH471093,AA236471,AB020723,AF075587,AF083244,AK000968,AK023888,AK025250,AK025299,AK092651,AL110277,NM_015057,BC037971,BE886946,BI859936,BX473679,BX647202,CN395460,CN395461 NP_055872,CAH73736,CAI16842,CAI39758,CAI39759,EAW80564,EAW80565,EAW80566,EAW80567,BAA74939,AAC39928,AAD39842,BAA91448,CAB53712,AAH37971,O75592,Q9NWD4,Q9UG08 Hs.591221 DKFZp686M08244|FLJ10106|FLJ13826|FLJ21597|FLJ21646|KIAA0916|PAM myc-binding protein 2|pam/highwire/rpm-1 protein|probable E3 ubiquitin-protein ligase MYCBP2|protein associated with Myc protein-coding 1345665 MYCBPAP MYCBP associated protein 1580863 12151104,17353931,18843202,12477932,11230166 84073 AK127992,AK303041,AK314052,AL136765,AL832225,BC028393,BC036358,BG718526,CR615720,NM_032133,AC021491,CH471109,AB083068 BAG54614,BAG64163,CAB66699,CAH56203,AAH28393,Q658Z8,Q8TBZ2,NP_115509,EAW94608,EAW94609,BAB88692 Hs.398196 AMAP-1|AMAP1|DKFZp434N1415 AMAM-1|AMY-1-binding protein 1|AMY1-associating protein 1|MYCBP-associated protein|OTTHUMP00000211655 protein-coding 1346068 MYCL1 v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) 1580863 19020549,18645122,17145094,16710414,15489334,15269151,15075794,15014029,12883749,12707044,12507230,12477932,12439118,12169206,12034523,11956626,11955646,11836605,11802801,11602341,11473723,10229200,8978772,7479755,3322939,3054516,2827002,2548855,2006410,18566574,10597290,19536170,20095854,20874233 4610 NM_001033081,NM_001033082,NM_005376,AL033527,AY191718,CH471059,M19720,X07262,X07263,AK296078,AK296838,BC011864,BC030694,BM967204,CR614411,CR624052,HC084230,AI144219,BX101968 ACE87032,CAB75682,NP_001028253,NP_001028254,NP_005367,CAI19407,CAI19408,AAO38672,EAX07250,EAX07251,AAA59878,AAA59879,CAA30248,CAA30249,BAG58834,BAG59407,AAH11864,P12524,Q86YL9,CBI12211,ABZ92166 Hs.437922 LMYC|MYCL|bHLHe38 class E basic helix-loop-helix protein 38|l-myc-1 proto-oncogene|myc-related gene from lung cancer|protein L-Myc-1 protein-coding 1343480 MYCL2 v-myc myelocytomatosis viral oncogene homolog 2 (avian) 1580863 10229200,10100857,7479755,3054516,2827002,2541066,1711681 4611 NG_009866,J03069,AC004081 AAB97938,AAA59883 bHLHe38 pseudo 1354494 MYCL3 v-myc myelocytomatosis viral oncogene homolog 3 (avian) (pseudogene) 10100857 9964 NG_001222,AL080239,Y16968 v-myc myelocytomatosis viral oncogene homolog 3 pseudogene (avian) pseudo 1345657 MYCLK1 v-myc myelocytomatosis viral oncogene homolog (avian)-like 1 1612604 4612 M64786 Avian myelocytomatosis viral (v-myc) oncogene homolog like 1|v-myc avian myelocytomatosis viral oncogene homolog-like 1|v-myc myelocytomatosis viral oncogene homolog (avian)-like 1 protein-coding 1344499 MYCN v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. [provided by RefSeq] 1580863 17020972,16912192,16912187,16596176,16516635,16278682,16166307,15833843,15660126,15644444,15632181,15547663,15489334,15331636,15316056,15314226,15302935,15258910,15218241,15198123,15117961,14737110,14719101,14647433,14645238,12907629,12819037,12808116,12670915,12660036,12569580,12477932,12438307,12232763,12219017,12192602,12153570,11881792,11861392,11850545,11826111,11602341,10677303,10407192,10229200,9856457,8668343,6728001,6719137,6700732,6575396,3940169,3552210,3510398,3437890,3299258,3008339,2987858,2869488,2834684,2582423,2006410,1695323,1549498,1425701,1419902,20409325,20961996,20395439,10597290,11593398,19401549,19208763,19111882,19061778,19047152,19047142,19006223,18955045,18949372,18785023,18769732,18671284,18610847,18591937,18504438,18488021,18470948,18391076,18348317,18335505,18281664,18278068,18198336,18165268,18097563,18059033,18004567,17710228,17704800,17643814,17611020,17554788,17535087,17525631,17506115,17495526,17464317,17327229,17289033,17213019,17172827,17055458,17023822,20575024,3796607,12545167,18851746,19301388,19495417,19608868,19615087,19649205,19656550,19724862,19766596,19852433,19885598,19924232,19946337,19956635,19997598,20007697,20017904,20080637,20103633,20144241,20145147,20173740,20179233,20180881,20190806,20332316,20424123,20478998,20425471,20811720,20236072 4613 HC084228,NM_005378,NG_007457,AC010145,AJ242956,CH471053,M13228,M13241,M18090,X02363,X03294,X03295,Y00664,AF320053,AI962624,AK298225,AK299495,BC002712,BT007384,BU167361,CR599077,CR614612,CR624442,M55330 CBI12210,NP_005369,AAY14952,CAB44703,EAX00885,EAX00886,EAX00887,EAX00888,AAA36370,AAA36371,AAA59885,CAB37871,CAA27037,CAA27038,CAA68677,CAA68678,AAG40001,BAG60495,BAG61453,AAH02712,AAP36048,P04198,Q53XS5,Q7Z7Q9,Q9H224,Q9UMQ5 Hs.25960 MODED|N-myc|NMYC|ODED|bHLHe37 N-myc proto-oncogene protein|class E basic helix-loop-helix protein 37|neuroblastoma MYC oncogene|neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene|oncogene NMYC|pp65/67|v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived protein-coding 1352448 MYCNOS v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) opposite strand The N-myc oncogene has been implicated in the pathogenesis of a number of human tumors, including childhood neuroblastoma and adult small cell lung cancer. Complementary DNA clones derived from a transcription unit, N-cym, located on the opposite DNA strand to N-myc have been characterized. There is extensive overlap between the 5' ends of the two transcription units. The N-cym gene, which can encode a 109-amino acid protein, is expressed during fetal development, as well as in tumor cell lines containing amplified N-myc loci, where it is expressed at very high levels. Although other examples of overlapping, opposite-strand eukaryotic genes exist, N-myc and N-cym are unique in that they appear to be coregulated in tumor cell lines under basal growth conditions and in response to the differentiating agent retinoic acid. This coregulation suggests that their protein products may be functionally interrelated during normal development and oncogenesis. [provided by RefSeq] 1580863 1419902,12880964,12477932 10408 NR_026766,AC010145,BC002892,S49953 AAY14951,P40205,AAB24206 Hs.651453 NCYM|NYCM miscrna 1350092 MYCP v-myc myelocytomatosis viral oncogene homolog pseudogene (avian) 4614 1322941 MYCT1 myc target 1 737633 16344560,14702039,14562369,12673574,12477932,8889549 737633 80177 NM_025107,AL390960,CH471051,AA152372,AF527367,AK021612,AK024922,AL834500,BC022556,BC128463,BC128464,CR599312,DA863771,GU997693 NP_079383,CAI23573,EAW47726,AAM88866,BAB15035,CAD39158,AAH22556,AAI28464,AAI28465,Q8N699,ADG03644 Hs.18160 FLJ21269|MGC156309|MGC156310|MTLC myc target in myeloid cells 1|myc target in myeloid cells protein 1|myc target protein 1 protein-coding 1345144 MYD88 myeloid differentiation primary response gene (88) 1302746,1580863 20306472,9374458,10383454,10880445,11544529,16286016,16365431,12761501,19506249,19494325,19453261,19336475,19297619,19265123,19254290,19167362,19124728,19006693,18987746,18810425,18802114,18782768,18776126,18771998,18768833,18719610,18703508,18669862,18581201,18571728,18541719,18539711,18523439,18503546,18458086,18325643,18292575,18195069,18086890,18070982,17940625,17935950,17920759,17905570,17583698,17548806,17513785,17507480,17507369,17363736,16644730,16517750,16517734,16482509,16424162,16293622,16236719,16203735,16189514,15849357,15845500,15760459,15728506,15665823,15623538,15489334,15361868,15342556,15004556,14702039,14630816,14573621,12885415,12865424,12860405,12724322,12659850,12646618,12531807,12477932,12391239,11960013,11909531,11880380,11854210,11828002,11743586,10952994,10854325,9716450,9344657,9013863,8957090,14625308,15276183,16024789,16997282,19120481,19257978,19281832,19423540,19488045,19509286,19543401,19548630,19592493,19619129,19656901,19745833,19753301,19779605,19786094,19826413,19917706,19940113,19948740,19950169,20145615,20197549,20219467,20331378,20406964,20438785,20448286,20463618,20485341,9575168,9915784,20802145,20817868,20433840,16484229,20941850,15107846,11976320,11416133,20410269,21048031,20167866,20957750,19913121,20588308,20628086,20676093 1302746 4615 NG_016964,NM_001172566,NM_001172567,NM_001172568,NM_001172569,NM_002468,AP006309,CH471055,AB446470,AK097983,AK124685,AK296570,AK296716,AK298650,AK298666,AK300051,AK300448,AK304676,AL832906,BC013589,BP242808,BP339466,BT007376,BX537602,CR619528,DC350705,U70451,U84408 NP_001166037,NP_001166038,NP_001166039,NP_001166040,NP_002459,EAW64520,EAW64521,BAG55247,BAG59190,BAG59306,BAG60822,BAG60834,BAG61860,BAG62170,BAG65448,AAH13589,AAP36040,AAB49967,AAC50954,Q99836,ACE87392,ACE86707 Hs.82116 MYD88D OTTHUMP00000208595|OTTHUMP00000209060|myeloid differentiation primary response protein MyD88 protein-coding 1315223 MYEF2 myelin expression factor 2 1580863 20709755,18029348,15489334,14702039,12477932,10718198 50804 NM_016132,AC066612,AC090526,CH471082,AB037762,AF106685,AF190159,AK002075,AK023133,AK027316,BC014533,BC068523,BC131786,BC152420,BC152451,BX647197,CR596492 NP_057216,EAW77337,EAW77338,EAW77339,EAW77340,EAW77341,EAW77342,BAA92579,AAD43038,AAQ13703,BAA92070,BAB14421,AAH14533,AAH68523,AAI52421,AAI52452,Q9P2K5,Q9Y655,AAI67842 Hs.6638 FLJ11213|HsT18564|KIAA1341|MEF-2|MGC87325|MST156|MSTP156 myEF-2|myelin expression factor 2|myelin gene expression factor 2 protein-coding 1344425 MYEOV myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) 20569498,17390055,16678123,16552434,16275643,15489334,12477932,12202983,10753852,20453838,16341674,20854874 26579 NM_138768,AP005379,CH471076,AJ223366,AK026148,AK290121,BC011815,BM785815,BM809741,BM837864 NP_620123,EAW74740,EAW74741,CAB65726,CAB65727,BAF82810,AAH11815,Q96EZ4 Hs.523848 OCIM hypothetical protein LOC26579|myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas) protein-coding 1601821 MYEOV2 myeloma overexpressed 2 15146197,12477932,19615732 150678 NM_138336,NM_001163424,AC013469,CH471063,AF453951,AF487338,BC033955,CN304277 NP_612209,NP_001156896,AAY14738,EAW71178,AAL41026,AAL96264,Q8WXC6,AAI40453 Hs.293884 helicase/primase complex protein|hypothetical protein LOC150678 protein-coding 1353148 MYETS1 multiple myeloma tumor suppressor 1 373170 1318025 MYF5 myogenic factor 5 1580863 2311584,2721498,19453261,19192046,16614355,15342556,12477932,12204280,10930450,10757985,9461343,9242638,8978788,8797820,2385294,12105204,19829708,9418854,15923648 4617 NM_005593,AC025568,CH471054,CS018099,CS025614,U27313,BC069373,BP231293,BT019399,BX089431,X14894 NP_005584,EAW97368,CAI58664,CAI61684,AAA69824,AAH69373,AAV38206,CAA33025,P13349,Q5U0P5 Hs.178023 bHLHc2 class C basic helix-loop-helix protein 2|myf-5|myogenic factor 5 protein-coding 731932 MYF6 myogenic factor 6 (herculin) 1580863,1600529 2311584,19453261,16614355,15489334,12477932,12105204,11053684,10757985,9242638,9234731,8978788,16344560,8889549,9418854,1945842,15923648 1600529 4618 NM_002469,AC025568,CH471054,AK313287,BC017834,CR407641,CR541763,X52011,AA176491,DA899591,NG_021392 NP_002460,EAW97367,BAG36095,AAH17834,CAG28569,CAG46563,CAA36260,P23409,ABM84174,ABM87576 Hs.35937 MRF4|bHLHc4 class C basic helix-loop-helix protein 4|muscle-specific regulatory factor 4|myf-6|myogenic factor 6 protein-coding 1350148 MYH1 myosin, heavy chain 1, skeletal muscle, adult Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq] 1580863 18029348,19169759,18848840,18495334,17949294,17853024,17674103,17524638,17368238,17252231,17196619,16929514,16492921,16344560,16292541,15932553,15489334,15121898,15034862,12477932,11971910,11018701,10388558,10077619,7545970,6304733,2421254,1465443,18310078,19536092,19888426,19932167,20357587,10909963,17916367,19913121,20628086 4619 NM_005963,AC005323,CH471108,CS025608,AF111785,AJ573764,AK310004,BC022376,BC114545,DA826478,X03740 NP_005954,EAW90005,CAI61681,AAD29951,AAH22376,AAI14546,CAA27380,P12882,Q6PJ55 Hs.689619 MGC133384|MYHSA1|MYHa|MyHC-2X/D|MyHC-2x myHC-IIx/d|myosin heavy chain 1|myosin heavy chain 2x|myosin heavy chain IIx/d|myosin heavy chain, skeletal muscle, adult 1|myosin, heavy polypeptide 1, skeletal muscle, adult|myosin-1 protein-coding 1353980 MYH10 myosin, heavy chain 10, non-muscle 1580863 20564232,20936779,15845534,7782316,15774463,7699007,11029059,7499478,19237661,18843042,18697221,18460584,18182116,17727819,17202408,17081983,17023528,16611744,16596254,16394101,16257837,15628858,15619008,15496454,12724421,12704189,12477932,10958671,10906735,9405067,8931991,8663598,7916668,7542763,1860190,8424456,14594945,17353931,20860798,17020881,19553683,19615732,20379614,20677014 4628 U15618,U34304,AC011061,AC025518,AC026130,CH471108,U51039,AB210026,AF086505,AK026977,BC000280,BC008968,BC117690,BC117691,BC144668,BC150634,BE799557,BG421687,BU173337,CR602815,M69181,S67247,NM_005964 AAA87712,AAA84880,P35580,Q149N4,Q15753,Q4LE45,Q6PK16,Q9BWG0,Q9UE82,Q9UMG3,NP_005955,EAW90046,EAW90047,EAW90048,EAW90049,EAW90050,AAC50620,BAE06108,AAH00280,AAH08968,AAI17691,AAI17692,AAI44669,AAI50635,AAA99177,AAB28952 Hs.16355 MGC134913|MGC134914|NMMHCB NMMHC II-b|NMMHC-B|NMMHC-IIB|OTTHUMP00000165799|cellular myosin heavy chain, type B type B|myosin heavy chain 10|myosin heavy chain, non-muscle IIb|myosin heavy chain, nonmuscle type B|myosin, heavy polypeptide 10, non-muscle|myosin-10|near to the ATP binding region|non-muscle myosin heavy chain B|non-muscle myosin heavy chain IIb|nonmuscle myosin II heavy chain-B|nonmuscle myosin heavy chain IIB|nonmuscle myosin heavy chain-B protein-coding 737424 MYH11 myosin, heavy chain 11, smooth muscle The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863,1580903 10906735,10850529,10493829,10048485,9715271,9628874,8276405,19596235,14627618,20508610,16444274,19011151,18941465,18798114,18796164,18391202,17956658,17666408,17571080,17287858,17081065,16767164,16504290,16502584,16000639,15968309,15585652,14702039,12477932,12239155,11439001,8424456,7916668,7684189,10998642,8219185,20936779 1580903 4629 GU143399,GU143400,NM_022844,NM_001040114,NM_001040113,NG_009299,AC024120,AC026401,AC130651,AF001548,CH471226,U91323,AA552189,AB020673,AF013570,AF020091,NM_002474,AK125033,AK308389,AK311080,AY520816,AY520817,BC031040,BC080545,BC101677,BC104906,BC143364,BX489788,BX641087,CR749516,D10667,EU489063,S67238,S67240,X69292,XR_109262 ACZ58373,ACZ58374,NP_002465,NP_074035,NP_001035203,NP_001035202,AAC31665,EAW53924,EAW53925,EAW53926,EAW53927,EAW53928,EAW53929,EAW53930,AAC35212,BAA74889,AAB69326,AAB69327,AAS98910,AAS98911,AAH31040,AAH80545,AAI01678,AAI04907,AAI43365,CAH18331,BAA36971,ACB05996,AAB28950,AAB28951,CAA49154,O14729,O14794,P35749,Q16085,Q16086,Q3MIV8,Q3MNF0,Q3MNF1,Q4G140,Q66K75,Q68D89,Q7Z7R0 Hs.460109 AAT4|DKFZp686D10126|DKFZp686D19237|FAA4|FLJ35232|MGC126726|MGC32963|SMHC|SMMHC myosin heavy chain 11|myosin heavy chain, smooth muscle isoform|myosin, heavy polypeptide 11, smooth muscle|myosin-11 protein-coding 737050 MYH13 myosin, heavy chain 13, skeletal muscle 69899,1580863 10388558,19240061,18830724,15231747,12110653,10077619,9806854,20379614,8424456 69899 8735 NM_003802,AC005291,AF075248,AF149209,CH471108,AF111782,AK294316 NP_003793,AAC83241,AAF73155,EAW90010,AAD29948,BAG57590,Q9P0U8,Q9UKX3,AAI56337,AAI57122 Hs.711142 MyHC-eo extraocular muscle myosin heavy chain|extraocular myosin heavy chain|myosin heavy chain 13|myosin heavy chain, skeletal muscle, extraocular|myosin, heavy polypeptide 13, skeletal muscle|myosin-13 protein-coding 1315652 MYH14 myosin, heavy chain 14 This gene encodes a member of the myosin superfamily. Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1600531 19240025,19183343,18471249,16713569,16344560,15845534,15498874,15489334,15015131,14702039,14594953,12909352,12477932,11919279,11752456,8022818,7655461,8424456,17940200,20533261 1600531 79784 NM_001077186,NM_024729,NM_001145809,NG_011645,AC008655,AC010515,AC020906,CH471135,AB111886,AB290169,AK023943,AK091982,AK122704,AK125082,AK303704,AK307783,AV661825,AY165122,AY203926,BC000676,BC004396,BC007877,BC018933,BC129803,CR936653,DB110776,FJ041910,L29142 NP_001070654,NP_079005,NP_001139281,EAW71838,EAW71839,EAW71840,EAW71841,EAW71842,EAW71843,BAC98374,BAG06723,BAB14735,BAG53677,BAG54136,BAG64689,AAO39147,AAP34449,AAH00676,AAH04396,AAH07877,AAH18933,AAI29804,CAI56791,ACM78630,AAA20905,Q14780,Q7Z406 Hs.467142 DFNA4|DKFZp667A1311|FLJ13881|FLJ43092|FP17425|KIAA2034|MHC16|MYH17|NMHC-II-C|myosin MYH14 variant protein|NMHC II-C|myosin heavy chain, non-muscle IIc|myosin, heavy polypeptide 14|myosin-14|non-muscle myosin heavy chain IIc|nonmuscle myosin heavy chain II-C protein-coding 1348086 MYH15 myosin, heavy chain 15 1580863,2317145,2317144 18073581,17975119,17081983,15042088,15014174,14702039,11919279,10231032,19023099,19752551,19948655 2317145,2317144 22989 AC069499,AC135308,CH471052,AB023217,AK055436,AK126801,NM_014981 NP_055796,EAW79726,BAA76844,BAG51517,Q9Y2K3,AAI72390 Hs.225968 myosin, heavy polypeptide 15|myosin-15 protein-coding 1344807 MYH16 myosin, heavy chain 16 pseudogene The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. Stedman et al. (2004) [PubMed 15042088] hypothesized that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man.[supplied by OMIM] 1580863 18085818,15470226,15042088,15014174,11919279 84176 NR_002147,AC004834,BK001410,CH236956,AK025690 BAB15219 Hs.621401 FLJ22037|MHC20|MYH16P|MYH5 myosin, heavy chain 16 pseudo 1347033 MYH2 myosin, heavy chain 2, skeletal muscle, adult 1580863,1600532 10388558,3904738,18029348,18495866,17005402,16344560,15741996,15496418,15489334,12756252,7545970,2877813,17353931,20562859,12235157,11897493,11889243,11114175,10579056,10077619,9730972,12477932,7751403,10082674,11256614,15013951,19615732,20357587,20418530,8145163 1600532 4620 AC005323,CH471108,CS025604,AF111784,AK299440,AK300702,AK308102,BC093082,BC126409,BX510904,DA765261,DC379233,S73840,Z32858,NM_017534,NM_001100112,NG_013014 NP_001093582,EAW90003,CAI61679,AAD29950,BAG61415,BAG62382,AAH93082,AAI26410,CAD91136,AAC13916,CAA83687,Q567P6,Q9UKX2,NP_060004 Hs.667534 MYH2A|MYHSA2|MYHas8|MyHC-2A|MyHC-IIa fast 2a myosin heavy chain|myosin heavy chain 2|myosin heavy chain 2a|myosin heavy chain IIa|myosin heavy chain, skeletal muscle, adult 2|myosin, heavy polypeptide 2, skeletal muscle, adult|myosin-2|type IIA myosin heavy chain protein-coding 731491 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq] 1580863 1691980,2771643,19142688,18695058,18649358,16642020,16579921,16368877,15342556,15203218,2806546,2726495,20357587,19913121,20628086 4621 NM_002470,NG_011537,AC002347,CH471108,AY517555,BP232093,BP232245,BP232269,BP233139,BP370003,BQ956249,BY796597,CD614924,X13100,X13988,X15696,X51593 NP_002461,EAW89999,EAW90000,AAT44528,CAA31492,CAA32167,CAA33731,CAA35942,P11055,Q5GJ67,AAI72385 Hs.440895 HEMHC|MYHC-EMB|MYHSE1|SMHCE muscle embryonic myosin heavy chain|myosin heavy chain 3|myosin heavy chain, fast skeletal muscle, embryonic|myosin, heavy polypeptide 3, skeletal muscle, embryonic|myosin, skeletal, heavy chain, embryonic 1|myosin-3 protein-coding 1323747 MYH4 myosin, heavy chain 4, skeletal muscle 1580863 10388558,3904738,14640694,11543711,10077619,9405067,8518795,7751402,17353931,20562859,19615732,8145163,19913121,20628086 4622 NM_017533,AC005323,CS025606,AF111783 NP_060003,CAI61680,AAD29949,Q9Y623,AAI56395,AAI57121 Hs.711141 MYH2B|MyHC-2B|MyHC-IIb myosin heavy chain 2b|myosin heavy chain 4|myosin heavy chain IIb|myosin heavy chain, skeletal muscle, fetal|myosin, heavy polypeptide 4, skeletal muscle|myosin-4 protein-coding 1348773 MYH5 myosin, heavy polypeptide 5 4623 737147 MYH6 myosin, heavy chain 6, cardiac muscle, alpha 1580905,1580922,1580923,1580863,1600533 16088376,15621050,15735645,15998695,11815426,18029348,12933792,18511944,16344560,12477932,11512664,9410916,8307559,3037493,2969919,19801488,20062063,20215591,2726733,2494889,2144212,2062315,1975475,1930170,1776652,8424456,18029400,19913121,20628086,20639392,20656787 1580905,1580922,1580923,1600533 4624 NM_002471,AL049829,CH471078,M25140,M25142,Z20656,AF056928,AK309494,BC117511,BC132667,D00943,DA566231,M21664,X56181,BX501231,GU324919,NG_023444 NP_002462,EAW66154,EAW66155,AAA60386,AAA60387,CAA79675,AAC13489,AAI17512,AAI32668,BAA00791,AAA36344,CAA39642,O60661,P13533,Q9UQV1,ADL14490 Hs.278432 ASD3|CMD1EE|CMH14|MYHC|MYHCA|alpha-MHC OTTHUMP00000164592|alpha myosin heavy chain|alpha-myosin heavy chain|cardiomyopathy, hypertrophic 1|myHC-alpha|myosin heavy chain 6|myosin heavy chain, cardiac muscle alpha isoform|myosin heavy chain, polypeptide 6|myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)|myosin-6 protein-coding 736718 MYH7 myosin, heavy chain 7, cardiac muscle, beta Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq] 1580924,1580925,1580926,1580927,1580928,1580929,1580930,1580931,1556469,1580863 16088376,15621050,3021460,15856146,8514894,18029348,12933792,19474452,19412328,19293840,19150014,19149795,19138847,19035361,18953637,18565996,18555187,18513529,18506004,18383048,18380764,18175163,18159245,18029407,17956225,17703256,17612745,17588755,17434305,17336526,17165166,17145772,17118657,17095604,17019812,16754800,16344560,16332199,16199542,16087648,15940186,15858117,15769782,15735645,15699387,15563892,15556047,15489334,15358028,15322983,15136674,15000344,14663035,14520662,12974739,12951062,12820698,12818575,12707239,12590187,12566107,12477932,12473556,12379228,12084606,12081993,11968089,11861413,11815426,11733062,11549319,11424919,11214007,11133230,11113006,11106718,10996847,10862102,10679957,10579056,10563488,10521296,10424815,10329202,9829907,9822100,9544842,8655135,8533830,8483915,8435239,8343162,8307559,8282798,8268932,8254035,8253797,8250038,7909436,7874131,7848441,7847377,7731997,7581410,3032769,2969919,2726733,2522082,2494889,3037493,2421254,2362820,2249844,2249479,2045411,1975517,1776652,1691980,1638703,1634614,1569941,1552912,1446073,1417858,1301151,1301139,8424456,17353931,20733148,18403758,12812986,12861002,17192269,19645038,19651039,19666645,19808356,19853701,19854198,19864899,19875404,19880069,19913502,20031618,20086309,20201937,20359594,20379614,20414521,20474083,20975235,19539541,20819418,20624503,20639392,20800588 1580924,1580925,1580926,1580927,1580928,1580929,1580930,1580931,1556469 4625 NM_000257,NG_007884,AJ238393,AL132855,CH471078,EF179180,M25135,M25139,M27636,M57965,X04627,X04633,X52889,AB209708,AJ710171,AK307590,AY518538,BC112171,BC112173,DA823104,DQ248310,EF560725,EU747717,M17712,M21665,M58018,X03741,X05631,X06976,X51591 Q14905,Q2XUS2,Q59EV3,Q5GJ54,NP_000248,CAC20413,EAW66151,EAW66152,EAW66153,ABN05283,AAA60384,AAA60385,AAA79019,AAA51837,CAA28300,CAA37068,BAD92945,AAT44534,AAI12172,ABB55265,ABQ59035,ACH92815,AAA36343,AAA36345,AAA62830,CAA27381,CAA29119,CAA30039,CAA35940,P12883,AAI12174 Hs.719946 CMD1S|CMH1|DKFZp451F047|MGC138376|MGC138378|MPD1|MYHCB|SPMD|SPMM OTTHUMP00000027949|beta-myosin heavy chain|myHC-beta|myhc-slow|myopathy, distal 1|myosin heavy chain (AA 1-96)|myosin heavy chain 7|myosin heavy chain slow isoform|myosin heavy chain, cardiac muscle beta isoform|myosin heavy chain, polypeptide 7|myosin, heavy polypeptide 7, cardiac muscle, beta|myosin-7|rhabdomyosarcoma antigen MU-RMS-40.7A protein-coding 1317507 MYH7B myosin, heavy chain 7B, cardiac muscle, beta 19913121,20224305,20628086,18634034,15014174,14702039,12477932,11919279,10819331,11329013,11780052,15489334,19948655,20154144,20520619,21031054 57644 NM_020884,AL132825,AL133324,CH471077,AB040945,AK000947,AY288964,BC007808,BC069327,BC069406,BC151242,BG189104,DB484143,NG_016984 NP_065935,CAI43040,CAI43041,CAI43042,CAI43043,CAI43044,CAI43047,CAI19310,EAW76236,EAW76237,EAW76238,BAA96036,BAA91440,AAQ93060,AAH07808,AAH69327,AAH69406,AAI51243,A7E2Y1 Hs.414122 MGC96928|MGC96940|MHC14|MYH14 U937-associated antigen|antigen MLAA-21|myosin heavy chain 7B, cardiac muscle beta isoform|myosin heavy chain-like|myosin, heavy polypeptide 7B, cardiac muscle, beta|myosin, heavy polypeptide 7b, cardiac muscle, beta|myosin-7B|slow A MYH14 protein-coding 1345305 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal 1600548,1580863 2373371,2045411,2715179,18049072,17041932,16344560,15282353,8518795,7601129,1691980,20357587,19913121,20628086 1600548 4626 NM_002472,AC005291,AC005323,AF067143,CH471108,AK303395,DB142109,M36769,X51592,Z38133,NG_013015 NP_002463,AAC21557,EAW90008,EAW90009,BAG64451,AAC17185,CAA35941,CAA86293,P13535,AAI72386 Hs.700484 MyHC-peri|MyHC-pn|gtMHC-F OTTHUMP00000160892|fetal-myosin heavy chain|myHC-perinatal|myosin heavy chain 8|myosin heavy chain, skeletal muscle, perinatal|myosin, heavy polypeptide 8, skeletal muscle, perinatal|myosin-8 protein-coding 732401 MYH9 myosin, heavy chain 9, non-muscle This gene encodes a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain. The protein is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in MYH9 are the cause of non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq] 1580863,1600553,1547864 20395239,15065866,15845534,12237319,14508515,16403913,15869600,15774463,10822899,12421915,16186248,1912569,11029059,7699007,15064761,14706930,19645626,19454694,19401332,19320731,19227191,19191864,19177153,19153477,19147824,18971378,18925516,18843042,18812466,18794856,18794854,18752571,18716610,18697221,18571626,18394644,18332220,18330899,18284620,18195072,18192507,18059020,17901043,20347641,14640694,15171681,18029348,19387472,19450438,19459928,19557653,19567477,19572073,19615732,19851296,19860543,19891592,19921264,20002731,20005488,20144966,20174760,20188514,20198315,20416459,20523037,20532800,20221761,20299374,20492585,20936779,19454010,20200500,17875677,17645784,17567956,17488351,17353931,17337617,17327270,17310241,17241369,17081983,17020881,16964243,16806139,16596254,16567366,16162639,16106752,16094384,16083285,15865432,15749830,15635413,15555549,15479433,15477207,15461802,15289939,15203218,12800156,12792306,12705885,12649151,12621333,12577067,12533692,12500226,12477932,12217806,11943476,11935325,11918549,11776386,11752022,11590545,11159552,11093280,11071640,11023810,10973260,10973259,10914687,10862698,10672519,10591208,9529381,9405067,9390828,8063857,8022818,7588733,6448079,1967836,1860190,1752022,603622,352343,8424456,11897493,16169070,14594945,20944748,20124285,20634883,20635188,20668430 1600553,1547864 4627 HI574092,NM_002473,NG_011884,CH471095,CR383703,DQ304679,Z82215,AB191263,AB290175,AK025219,AK025393,AK131080,AK291609,AK304840,AL832639,BC011915,BC049849,BC090921,BC111387,CD614930,CR456526,D11393,L29141,M31013,M69180,M81105 AAH49849,CBX47535,NP_002464,EAW60096,EAW60097,EAW60098,ABC25483,CAB05105,CAQ09090,CAQ09091,BAD52439,BAG06729,BAC85130,BAF84298,BAG65583,CAD89954,AAH90921,CAG30412,BAA01989,AAA20904,AAA36349,AAA61765,AAA59888,P35579,Q2PS10,Q5BKV1,Q60FE2,Q6ZNL4,Q86XU5,Q99529,Q9UMJ0,AAI50170,AAI50171,CAK54557,CAK54856 Hs.474751 DFNA17|EPSTS|FTNS|MGC104539|MHA|NMHC-II-A|NMMHCA MYH9 variant protein|NMMHC II-a|NMMHC-A|NMMHC-IIA|cellular myosin heavy chain, type A|myosin heavy chain 9|myosin heavy chain, non-muscle IIa|myosin, heavy polypeptide 9|myosin-9|non-muscle myosin heavy chain A|non-muscle myosin heavy chain IIa|non-muscle myosin heavy polypeptide 9|nonmuscle myosin heavy chain II-A protein-coding 1353391 MYHK myosin, heavy polypeptide kinase 4630 733783 MYL1 myosin, light chain 1, alkali; skeletal, fast Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq] 1580863 16344560,15489334,12477932,11707283,11071908,10998640,3601661,3422212,2777779,2458299,2304459,3904738,8145163 4632 NM_079420,NM_079422,AC021150,AC097525,CH471063,J05026,J05027,AA705167,AK311892,AK311942,BC005318,CR456869,CR598137,DA898482,M20643,X05451 NP_524144,NP_524146,AAY14720,AAY24177,EAW70483,EAW70484,EAW70485,AAA66960,AAA66968,BAG34833,BAG34883,AAH05318,CAG33150,AAA59855,CAA29020,P05976,Q53R15,Q53SD2 Hs.187338 MLC1F|MLC3F A1 catalytic|A2 catalytic|MLC1/MLC3|MLC1F/MLC3F|myosin light chain 1/3, skeletal muscle isoform|myosin light chain A1/A2|myosin light chain alkali 1/2|myosin, light polypeptide 1, alkali; skeletal, fast protein-coding 1603931 MYL10 myosin, light chain 10, regulatory 11256614,16381901,15489336,12477932,11076863,1628631,20877624 93408 AC004953,CH471197,BC002778,NM_138403 NP_612412,EAW50225,EAW50226,AAH02778,Q9BUA6,CAL38725 Hs.247831 MYLC2PL|PLRLC myosin light chain 2, lymphocyte-specific|myosin light chain 2, precursor lymphocyte-specific|myosin regulatory light chain 10|precursor lymphocyte-specific regulatory light chain protein-coding 1606574 MYL12A myosin, light chain 12A, regulatory, non-sarcomeric 17353931,17719568,15489334,12477932,11942626,9373149,8125298,2216787 10627 AP005329,CH471113,AK222569,AK291145,BC016372,BC031972,BC032748,CR615662,CR620560,D82059,NM_006471,DQ185044,X54304 NP_006462,EAX01678,EAX01679,EAX01680,EAX01681,BAD96289,BAF83834,AAH16372,AAH31972,AAH32748,BAB88919,ABD14424,CAA38201,P19105,Q2F834,Q53HL1,Q53X45,ABM83740,ABM87059 Hs.190086 MLCB|MRCL3|MRLC3|MYL2B MLC-2B|myosin RLC|myosin regulatory light chain 12A|myosin regulatory light chain 2, nonsarcomeric|myosin regulatory light chain 3|myosin regulatory light chain MRCL3|myosin regulatory light chain MRLC3|myosin, light polypeptide, regulatory, non-sarcomeric (20kD) protein-coding 1601728 MYL12B myosin, light chain 12B, regulatory The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM] 19165527,15946647,15188056,15146197,12477932,11942626,10593918,14627618,19615732 103910 NM_033546,NM_001144944,NM_001144945,AP005329,CH471113,AK291726,AV714583,AY320408,BC004994,BG696903,BG703257,CA307094,CN302451,CR590117,CR594051,CR611530,CR613012,CR618334,CR620543,D50372,D82058,U26162 NP_291024,NP_001138416,NP_001138417,EAX01675,EAX01676,EAX01677,BAF84415,AAP73808,AAH04994,BAA23323,BAB88918,AAA67367,O14950 Hs.190086,Hs.464472 MLC-B|MRLC2 MLC-2|MLC-2A|MLC20|SHUJUN-1|myosin regulatory light chain 12B|myosin regulatory light chain 2|myosin regulatory light chain 2-B, smooth muscle isoform|myosin regulatory light chain 20 kDa|myosin regulatory light chain MRLC2 protein-coding 737270 MYL2 myosin, light chain 2, regulatory, cardiac, slow Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq] 1580240,1580241,1580863 19293840,19254691,18987303,18948272,18648664,18513529,18403758,17244674,16199542,15967462,15489334,14756420,12818575,12707239,12477932,12404107,12185584,11891719,11773029,11748309,10047984,9535554,7498159,2704627,1386340,11399775,9180271,11102452,8287067,16555005,8673105,15824735,16754800,16169070,17043135,17885681,19345098,19853701,19875404,20031618,20359594,9418861,20634891 1580240,1580241 4633 NM_000432,NG_007554,AC002351,CH471054,AA090235,AF020768,AK312013,BC015821,BC031006,BC031008,BX538165,CR456962,CR541957,M22815,S69022,X14332,X57542,X66141 NP_000423,EAW97943,EAW97944,EAW97945,AAB91993,BAG34951,AAH15821,AAH31006,AAH31008,CAG33243,CAG46755,AAA91832,AAB29658,CAA32510,CAA40761,CAA46931,P10916,Q14908,Q6IB42,Q7Z3Z1,ABM83734,ABM87054 Hs.75535 CMH10|DKFZp779C0562|MLC2 MLC-2|MLC-2v|RLC of myosin|cardiac ventricular myosin light chain 2|myosin light chain 2|myosin regulatory light chain 2, ventricular/cardiac muscle isoform|myosin, light polypeptide 2|myosin, light polypeptide 2, regulatory, cardiac, slow|regulatory light chain of myosin|slow cardiac myosin regulatory light chain 2 protein-coding 736456 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq] 1580241,1580863 19853701,20031618,20359594,17207965,16675844,2789520,8673105,16754800,19293840,18403758,17717642,16199542,15489334,15342556,14516912,12707239,12477932,12404107,12186978,12021217,11748309,9990131,9614495,7498159,3979397,3417683,3357795,2784124,2536191,1479618,18513529,19913121,20628086 1580241 4634 NM_000258,NG_007555,AC109583,CH471055,M24247,M76408,AF174483,AJ709328,AK312044,BC009790,BP316922,M24122,X07373 ADQ33184,NP_000249,EAW64791,EAW64792,AAA59851,AAA59894,AAF91089,BAG34981,AAH09790,AAA59895,CAA30292,P08590,Q14909 Hs.517939 CMH8|MLC1SB|MLC1V|VLC1 CMLC1|OTTHUMP00000165922|cardiac myosin light chain 1|myosin light chain 1, slow-twitch muscle B/ventricular isoform|myosin light chain 3|myosin, light polypeptide 3, alkali; ventricular, skeletal, slow|ventricular/slow twitch myosin alkali light chain protein-coding 1350723 MYL4 myosin, light chain 4, alkali; atrial, embryonic Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 9738905,9180271,14985854,16381901,16106982,15489336,15489334,12477932,11557734,11076863,10494800,10373429,9000508,6879193,3417683,2849544,2458299,2308163,2129532,2027757,16675844 4635 NM_001002841,NM_002476,AC068234,AC087649,CH471231,M37074,X58851,X58854,X58855,BC030228,BU658678,H83803,M20641,M24121,M36172,X13955,X52005 NP_001002841,NP_002467,EAW57683,EAW57684,EAW57685,AAA59858,CAA41655,AAH30228,AAA59856,AAA59891,AAA36319,CAA32137,CAA36256,P12829,Q03399,CAL37401,CAL37414,CAL37780,CAL38519,CAL38553 Hs.463300 ALC1|AMLC|GT1|PRO1957 myosin light chain 1, embryonic muscle/atrial isoform|myosin light chain 4|myosin light chain alkali GT-1 isoform|myosin, atrial/fetal muscle, light chain|myosin, light polypeptide 4, alkali; atrial, embryonic protein-coding 1354290 MYL5 myosin, light chain 5, regulatory This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq] 1580863 1284596,14702039,12477932,10722873,20201926,20098747 4636 NM_002477,AC107464,AK123974,AK125529,BC040050,L03785 NP_002468,AAH40050,AAA59890,Q02045 Hs.410970 MYLC2|OTTHUMP00000217188|OTTHUMP00000217190|OTTHUMP00000217193|myLC-2|myosin light chain 5|myosin regulatory light chain 5|myosin, light polypeptide 5, regulatory|superfast myosin regulatory light chain 2 protein-coding 1313756 MYL6 myosin, light chain 6, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 14627618,19615732,2304459,16953301,16189514,15489334,15146197,12477932,11436981,8856505,8188229,2722814,16169070,10737800,17207965 4637 NM_021019,NM_079423,AC034102,AC073896,CH471054,M22919,AB046613,BC006781,BC017455,BC071661,BC093066,CN401857,CR456839,CR457014,CR591507,CR592135,CR594305,CR598874,CR600357,CR601266,CR605329,CR605452,CR620884,CR621220,CR625614,CR626743,M22918,M22920,M31212,N84459,U02629,BG283793,CA427580 NP_066299,NP_524147,EAW96899,EAW96900,EAW96901,EAW96902,EAW96903,EAW96904,EAW96905,AAA59892,AAA59893,BAB62402,AAH06781,AAH17455,AAH71661,AAH93066,CAG33120,CAG33295,AAA36347,AAA36348,AAA59853,AAA20643,P60660,Q6IBG5,ACE87414,ACE86728,ADQ31951 Hs.632717 ESMLC|LC17|LC17-GI|LC17-NM|LC17A|LC17B|MLC-3|MLC1SM|MLC3NM|MLC3SM 17 kDa myosin light chain|LC17|MLC-3|myosin light chain 3|myosin light chain A3|myosin light chain alkali 3|myosin light polypeptide 6|myosin, light polypeptide 6, alkali, smooth muscle and non-muscle|smooth muscle and non-muscle myosin alkali light chain|smooth muscle and nonmuscle myosin light chain alkali 6 protein-coding 1606964 MYL6B myosin, light chain 6B, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. [provided by RefSeq] 14627618,2304459,15510214,2458299,18587628,15489334,12477932,8856505,2602161,10737800 140465 AC034102,CH471054,AI349553,AK304594,AK310996,BC012425,BC014400,BU166567,CR604010,CR625668,M31211,X16434,NM_002475,NM_001199629 NP_002466,EAW96894,EAW96895,EAW96896,EAW96897,EAW96898,BAG65380,AAH12425,AAH14400,AAA36320,CAA34457,P14649,ABM82232,ABM85417,NP_001186558 Hs.632731 MLC1SA myosin alkali light chain 1 slow a|myosin light chain 1 slow a|myosin light chain 1 slow-twitch muscle A isoform|myosin light chain 1, slow-twitch muscle A isoform|myosin light chain 6B|myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle|smooth muscle and non-muscle myosin alkali light chain 6B|smooth muscle and nonmuscle myosin light chain alkali 6B protein-coding 1352827 MYL6P myosin, light chain 6, pseudogene 10830953 54043 NG_000917,AP001053,AP001752 MYL6P myosin, light polypeptide 6, pseudogene pseudo 3102872 MYL6P2 myosin, light chain 6 pseudogene 2 100431168 AF121781,NG_021232 pseudo 3254988 MYL6P3 myosin, light chain 6 pseudogene 3 100129561 AL513321,NG_022957 pseudo 3103162 MYL6P4 myosin, light chain 6 pseudogene 4 642627 AC004979,CH236950,NG_009428 pseudo 1317934 MYL7 myosin, light chain 7, regulatory 1580934,1580863 15621049,1429676,15489334,12847096,12757876,12477932,12083776,8207020,15735645,18718080 1580934 58498 AC006454,CH236960,CH471128,AK311869,BC027915,M94547,W17098,NM_021223 EAW61117,BAG34810,AAH27915,AAA59889,Q01449,NP_067046 Hs.75636 MYL2A|MYLC2A MLC-2a|MLC2a|OTTHUMP00000209242|OTTHUMP00000209244|OTTHUMP00000209245|myosin light chain 2a|myosin regulatory light chain 2, atrial isoform|myosin regulatory light chain 7|myosin, light polypeptide 7, regulatory protein-coding 1350404 MYL8P myosin, light chain 8, pseudogene 1300397 9545376,9521053,19851445 1300397 442204 NG_005310,AL662820,AL662827,Z97183,BX248088,CR759793,CR759817 BING3 pseudo 1322585 MYL9 myosin, light chain 9, regulatory Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1582589,1580863 2526655,18480596,16076902,14702039,12477932,11942626,11780052,16169070,11283256,14627618,19724058,20308539 1582589 10398 NM_006097,NM_181526,AL050318,CH471077,AF176042,AF176043,AK097235,AK130879,BC002648,BQ953325,CR456843,CR602511,CR603140,CR603972,CR608537,CR622560,D82057,J02854 NP_006088,NP_852667,CAB75369,CAC34440,EAW76129,EAW76130,EAW76131,EAW76132,EAW76133,EAW76134,AAQ13653,AAQ13654,AAH02648,CAG33124,BAB88917,AAA59852,P24844,Q6IBG1,Q71U02,Q9BQL9,Q9BUF9,ACE87441,ACE86753 Hs.504687 LC20|MGC3505|MLC2|MRLC1|MYRL2 20 kDa myosin light chain|MLC-2C|myosin RLC|myosin regulatory light chain 1|myosin regulatory light chain 2, smooth muscle isoform|myosin regulatory light chain 9|myosin regulatory light chain MRLC1|myosin regulatory light polypeptide 9|myosin, light polypeptide 9, regulatory protein-coding 1313988 MYLIP myosin regulatory light chain interacting protein The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq] 1580863 10593918,14550572,19520913,16785530,15498874,15489334,12826659,12477932,11162443,11042152,19688294,19936222,20347265,17207965,20864672 29116 NM_013262,AF006004,AL021407,CH471087,AF006003,AF187016,AF212221,AF258586,AJ420601,AK026739,AK074391,AK314648,BC002860,BT007055 NP_037394,AAQ13409,CAI19547,CAI19548,EAW55366,EAW55367,AAQ13408,AAF18974,AAF87323,AAG23789,BAG37209,AAH02860,AAP35704,Q5TIA5,Q8WY64,ABW03635,ADQ31810 Hs.484738 IDOL|MIR E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor|E3 ubiquitin-protein ligase MYLIP|band 4.1 superfamily member BZF1|cellular modulator of immune recognition (c-MIR)|inducible degrader of the LDL-receptor|myosin regulatory light chain-interacting protein protein-coding 1322095 MYLK myosin light chain kinase This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq] 1581052,1580863,4891489,4891491,4891492 18521921,18496125,18363837,18218860,17472811,17266121,17244674,16835238,16723733,16399953,16306123,16284075,15825080,15817725,15681825,15507455,15087444,15056655,15020676,14741352,14702039,12477932,12460991,12408982,12110694,12107410,11976941,11481347,11306802,11113114,11062269,10748018,14627618,14968112,17474147,19706030,19826488,20081554,20098615,20181817,20207250,21055718,8575746,19429448,19277499,19264973,19011151,18828194,18766098,10402467,10362724,10198165,10092231,10036190,9806740,9160829,8889548,8294496,7947686,6547441,3160694,3079756,2160950,18710790,10536370,20453870,19913121,20628086,20053363 1581052,4891489,4891491,4891492 4638 NM_053026,NM_053027,NM_053025,NM_053032,NM_053031,AC020634,AC023165,AC117381,AF096769,AF096770,AF096771,CH471052,AB037663,AF069601,AF069602,AF069603,AF069604,AF096773,AF096774,AF096775,AF172084,AK022278,AK025953,AK127437,AK300610,AK311053,AK314412,AK314443,AL832211,AY339601,AY424269,AY424270,BC015838,NM_053028,BC034911,BC040115,BC062755,BC064420,BC064695,BC100761,BC100762,BC100763,BC107783,BC113456,BC113458,BM723621,BU678390,CA391484,CA391924,CA432076,CR749364,DQ642691,DQ642692,U48959,X85337,X90870,Y09530,BC017811 NP_444256,NP_444254,NP_444255,NP_444253,NP_444260,NP_444259,AAD51380,AAD51381,EAW79435,EAW79436,EAW79437,EAW79438,EAW79439,EAW79440,EAW79441,EAW79442,EAW79443,EAW79444,EAW79445,EAW79446,BAB21504,AAD15921,AAD15922,AAD15923,AAD15924,AAD54017,AAD54018,AAD54019,AAQ13607,BAG62305,BAG37033,BAG37052,AAQ02673,AAR29061,AAR29062,AAH64420,AAI00762,AAI00763,AAI00764,AAI07784,AAI13457,AAI13459,AAH17811,CAH18217,ABG25912,ABG25913,AAC18423,CAA59685,CAA62378,CAA70723,Q05B97,Q05B98,Q05D81,Q06S79,Q15746,Q17S15,Q3B765,Q3ZCP9,Q68DK3,Q6LAL4,Q6P2N0,Q6ZNP1,Q7Z4F4,Q9UBY6 Hs.625965,Hs.477375 DKFZp686I10125|FLJ12216|KRP|MLCK|MLCK1|MLCK108|MLCK210|MSTP083|MYLK1|smMLCK OTTHUMP00000180642|OTTHUMP00000215974|kinase-related protein|myosin light chain kinase, smooth muscle|myosin, light polypeptide kinase|smooth muscle myosin light chain kinase|telokin protein-coding 737455 MYLK2 myosin light chain kinase 2 This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq] 1580243,1580244,1580863 16448786,15489334,14500714,12477932,11780052,11733062,10198165,9147985,8681137,2839493,17643375,18828194,19667195 1580243,1580244 85366 NM_033118,AL160175,CH471077,AF325549,AJ272502,BC007753,BC069627,BC092413,BC127622,BX647635,F22840,NG_012847 NP_149109,CAC10006,EAW76414,EAW76415,EAW76416,EAW76417,AAK15494,CAC81354,AAH07753,AAH69627,AAH92413,AAI27623,Q9H1R3 Hs.86092 KMLC|MLCK|MLCK2|skMLCK OTTHUMP00000030561|myosin light chain kinase 2, skeletal muscle|myosin light chain kinase 2, skeletal/cardiac muscle protein-coding 1604762 MYLK3 myosin light chain kinase 3 Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM] 18390750,18202317,17885681,16344560,15489334,12477932 91807 NM_182493,AC007225,CH471092,AB451455,AJ247087,AK299443,AL691746,BC039103,BC109096,BC109097,CR739116,DA561361 NP_872299,EAW82687,BAG70269,CAC42766,BAH13034,AAI09098,Q32MK0 Hs.130465 MGC126319|MGC126320|MLCK|MLCK2|caMLCK MLC kinase|cardiac-MyBP-C associated Ca/CaM kinase|cardiac-MyBP-C-associated Ca/CaM kinase|putative myosin light chain kinase 3 protein-coding 1604705 MYLK4 myosin light chain kinase family, member 4 12471243,14702039,14574404,12477932,20379614 340156 NM_001012418,AL138876,AL139092,CH471087,AK090753,AK096893,AK122581,AK127360,BC132831,BC132833,BX647582 CAH73662,NP_001012418,CAI12221,EAW55083,EAW55084,BAC56922,AAI32832,AAI32834,Q86YV6 Hs.127830 SgK085 caMLCK like|myosin light chain kinase family member 4|sugen kinase 85 protein-coding 1346625 MYLKP myosin light chain kinase pseudogene 10036190 9430 NG_009879,AC117481,AF042089 MYLKP myosin, light chain kinase pseudogene pseudo 1350870 MYLL1 myosin, light polypeptide, cardiac muscle-like 1 4639 1603646 MYLPF myosin light chain, phosphorylatable, fast skeletal muscle 6091059,6179945,15489334,14756420,12477932,17207965 29895 NM_013292,AC127457,CH471192,AF363061,AK314082,BC012571,BX649054,CR456963,M21812,X57543 NP_037424,EAW52254,EAW52255,AAK52797,BAG36780,AAH12571,CAG33244,AAA91848,CAA40762,Q96A32,ADQ32659 Hs.50889 DKFZp779C0757|HUMMLC2B|MGC13450|MRLC2|MYL11 MLC2B|fast skeletal myosin light chain 2|myosin light chain 2|myosin regulatory light chain 2, skeletal muscle isoform|myosin, light chain 11, regulatory protein-coding 1354007 MYMY1 moyamoya disease 1 9973290 50960 1345006 MYMY2 moyamoya disease 2 10754001 260295 1347577 MYMY3 moyamoya disease 3 15362573 493818 1317346 MYNN myoneurin 10873615,18676680,15489334,20936779,14702039,14694499,12477932,16344560,17409414,18316326,19170196,19625176,19692168,20190752,20386695,20972440 55892 NM_018657,AB079779,AC078795,AC078802,AY286322,AY286328,CH471052,AB079777,AB079778,AF076249,AF148848,AF155508,AK021646,AK092022,AK304281,AK307916,AK312527,AL133070,AY514901,AY515691,AY515692,AY541760,AY541761,BC020610,BC033620,BX648128,CR616419,DB134736,DC362274,NM_001185118,NM_001185119,NR_033702,NR_033703 NP_061127,BAC55900,AAP44763,AAP44764,EAW78544,EAW78545,EAW78546,BAC55898,BAC55899,AAF80160,AAF73138,AAF74822,BAB13862,BAG52468,BAG65141,BAG35426,CAB61393,AAR99055,AAS38566,AAS38567,AAS87376,AAS87377,AAH20610,AAH33620,CAI46035,Q05CW1,Q9NPC7,ABM82522,ABM85716,BAI46624,NP_001172047,NP_001172048 Hs.507025,Hs.630744 OSZF|SBBIZ1|ZBTB31|ZNF902 myoneurin|zinc finger and BTB domain-containing protein 31|zinc finger protein with BTB/POZ domain protein-coding 1316238 MYO10 myosin X 1580863 16169070,19615732,20123970,20379614,20930142,19204726,18818677,18599451,18295593,17081983,16894163,16371656,16344560,15158464,15156152,14760703,14702039,12477932,12055636,11278607,10984435,10610710,9872452,8884266 4651 NM_012334,AC010310,AC010607,AC024588,CH471102,AB018342,AF132021,AF132022,AF184153,AF234532,AF247457,AI086647,AK001501,AK024719,AK025921,AK074717,AK125246,AK295630,AK295736,AK303459,AK316138,AL832428,BC014956,BC032669,BC041694,BC050682,BC071965,BC094838,BC108736,BC137168,BC150285,CA488271,DA504301 NP_036466,EAX08016,EAX08017,EAX08018,BAA34519,AAF36524,AAF36525,AAF17363,AAF37875,AAF68025,BAC11158,BAG58507,BAH12170,BAG64502,BAH14509,CAH10611,AAH41694,AAH50682,AAH71965,AAH94838,AAI08737,AAI37169,AAI50286,Q69YP8,Q6IPD7,Q8IVX5,Q8NCI3,Q9HD67 Hs.481720 FLJ10639|FLJ21066|FLJ22268|FLJ43256|KIAA0799|MGC131988 OTTHUMP00000220773|myosin-X|unconventional myosin-10 protein-coding 1343693 MYO15A myosin XVA This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq] 1580863,1600554 10552926,19274735,17853461,17546645,14702039,12114748,11997338,11735029,11583965,10915760,9603736,7704031,16169070,15590698,19309289,19807924,20642360 1600554 51168 NM_016239,NG_011634,AC087164,CH471196,AB209423,AF144094,AK055873,AK294036,AK297179,AK297641,AK298825,AK300529,AK310232,AL713794,BX538062 NP_057323,EAW55663,EAW55664,EAW55665,EAW55666,EAW55667,BAD92660,AAF05903,BAG57388,BAG59671,BAG60011,BAG60955,BAH13297,CAD28548,CAD97993,Q59FN7,Q7Z382,Q8TCK0,Q9UKN7 Hs.462390 DFNB3|DKFZp686N18198|FLJ17274|FLJ31311|MYO15 myosin-XV|unconventional myosin-15 protein-coding 1345573 MYO15B myosin XVB pseudogene 1580863 18316326,14702039,12477932,11964073,11347906,11294886,10737800,16189514 80022 BI011320,BK000056,BC128044,AC087749,CQ783956,AB058686,AF418286,AF418287,AF418288,AF418289,AF418290,AF418291,AF418292,AF418293,AK025259,AK026339,AK074680,AK096869,AK097896,AK126458,AL713730,BC027875,BC033247,NR_003587 BAG10147,CAF86943,BAB47412,BAB15453,CAD28520 Hs.390817 FLJ21606|FLJ22686|FLJ40577|FLJ44494|KIAA1783|MYO15BP myosin XVB|myosin xvb, pseudogene pseudo 1604637 MYO16 myosin XVI 11588169,17029291,14702039,12477932,12421765,10048485,8889548,19913121,20628086,20201926,20379614 23026 AL136132,AL157771,AL161431,AL353143,AL390918,AL512648,AB020672,AB290159,AI692718,AK095691,AK127806,AK302933,NM_015011,BM682627,NM_001198950,AL834447,BC146791,BM723424 NP_055826,CAH70519,CAH70520,CAH70521,CAI16366,CAI16367,CAI15548,CAH73221,CAH73222,CAH73223,CAI15821,CAI15822,CAI15823,BAA74888,BAG06713,BAC04608,BAC87143,NP_001185879,BAG64093,CAD39107,AAI46792,Q9Y6X6 Hs.656587 KIAA0865|MYR8|Myo16b MYO16 variant protein|OTTHUMP00000018693|OTTHUMP00000018694|OTTHUMP00000018695|myosin heavy chain Myr 8|myosin-XVI|unconventional myosin-16 protein-coding 1605490 MYO18A myosin XVIIIA 18029348,18443188,19837035,19923322,20379614,14702039,12761286,12477932,10733938,9039502,8663107,18854160,9918798,19006078,17081983,16713569,16087679,16083285,15835906,15491607,15489334,15302935,20936779 399687 NM_203318,NM_078471,AC024619,CH471159,AB177858,AB177860,AF252258,AK122870,AK294180,AK302505,AK302725,AK303522,AY703984,BC039612,AC005412,BM544214,CR615876,CR933614,D86970 NP_510880,NP_976063,EAW51177,EAW51179,EAW51183,BAD66836,BAD66838,AAF70181,BAG53770,BAG57498,BAG63783,BAG63944,BAG64550,AAV80770,AAH39612,CAI45931,BAA13206,Q5QD01,Q92614,Q9NYE8 Hs.462590 DKFZp686L0243|KIAA0216|MYSPDZ|SPR210 MAJN|SP-A receptor subunit SP-R210 alphaS|molecule associated with JAK3 N-terminus|myosin 18A|myosin containing PDZ domain|myosin containing a PDZ domain|myosin-XVIIIa protein-coding 1349934 MYO18B myosin XVIIIB The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq] 1580863 17474147,12547197,18519826,17294804,17081983,16499872,15305387,14702039,12741677,12209013,10591208,20713499,12477932,18029348,20379614 84700 NM_032608,AJ310932,AL022329,AL079300,AL080245,CH471095,Z98949,AB042648,AB075376,AJ271918,AJ310931,AK095943,AK123936,AL833890,AY077700,BC144596,BC144597,BC150626,CR749556 NP_115997,CAC70714,EAW59702,EAW59703,EAW59704,EAW59705,EAW59706,EAW59707,EAW59708,BAB55550,BAC16363,CAC81082,CAC70712,BAC04656,CAD38746,AAL75811,AAI44598,AAI50627,CAH18353,Q68D67,Q8IUG5,Q8N903 Hs.417959 DKFZp434C2422|DKFZp779C1668|FLJ41942 myosin 18B|myosin-XVIIIb protein-coding 1352895 MYO19 myosin XIX 737633,1580863 17877792,12477932,18029348,19932026,8889548 737633 80179 NM_025109,NM_001033580,AC126327,CH471199,AB209035,AK026518,AK293903,AK299802,AK304073,AY545559,BC008900,BC036325,BM921100,BU543266,CD656712,AL133017,AC233700,AA631248,BM661625,NM_001163735 NP_079385,NP_001028752,EAW57556,EAW57557,EAW57558,EAW57559,EAW57560,EAW57561,BAD92272,BAB15495,BAH11623,BAG61677,BAG64980,AAS50154,AAH08900,Q96H55,NP_001157207 Hs.302051 FLJ22865|MYOHD1 myosin head domain containing 1|myosin head domain-containing protein 1|myosin-XIX protein-coding 1345169 MYO1A myosin IA The protein encoded by this gene belongs to the myosin superfamily. Myosins are molecular motors that, upon interaction with actin filaments, utilize energy from ATP hydrolysis to generate mechanical force. Each myosin has a conserved N-terminal motor domain that contains both ATP-binding and actin-binding sequences. Following the motor domain is a light-chain-binding 'neck' region containing 1-6 copies of a repeat element, the IQ motif, that serves as a binding site for calmodulin or other members of the EF-hand superfamily of calcium-binding proteins. At the C-terminus, each myosin class has a distinct tail domain that serves in dimerization, membrane binding, protein binding, and/or enzymatic activities and targets each myosin to its particular subcellular location. The kidney epithelial cell line, LLC-PK1-CL4 (CL4), forms a well ordered brush border (BB) on its apical surface. Experiments indicate that the brush border population of the encoded protein turns over rapidly, while its head and tail domains interact transiently with the core actin and plasma membrane, respectively. A rapidly exchanging pool of the protein encoded by this gene envelops an actin core bundle that, by comparison, is static in structure. [provided by RefSeq] 1580863,1600218 12736868,8692943,9858156,18599791,17981900,16936815,15489334,12596055,12477932,11916846,11474115,10653589,8884266,8022818,2606897,12812986,2161834,19615732,20379614 1600218 4640 NM_005379,NG_012104,AC026120,CH471054,AF009961,AF105424,AF127026,AK300381,AK312431,BC059387,L29137 NP_005370,EAW96981,EAW96982,EAW96983,AAC27437,AAC78645,AAD31189,BAG62116,BAG35340,AAH59387,AAA20900,Q13871,Q9UBC5 Hs.5394 BBMI|DFNA48|MIHC|MYHL BBM-I|brush border myosin I|brush border myosin-I|myosin I heavy chain|myosin, heavy polypeptide-like (100kD)|myosin-Ia protein-coding 735320 MYO1B myosin IB 1580863 18599791,16219689,15489334,15146197,14702039,12486594,12477932,11509238,8719884,8022818,17353931,8449985 4430 NM_001130158,NM_012223,NM_001161819,AC068056,AC092614,AC118061,AC133534,CH471058,BF061446,BG563224,BQ027157,BQ650834,CA435949,CN295039,CR626763,DB461518,L29138,BC060849,AB290176,AI751497,AJ001381,AJ001382,AK000160,AK022489,AK074978,BC021665,BC053558 NP_001123630,NP_036355,NP_001155291,EAX10839,AAA20901,O43795,Q05CR5,Q14777,ACE87457,ACE86771,EAX10841,EAX10842,EAX10843,EAX10844,EAX10845,BAG06730,CAA04712,CAA04713,BAG52044,AAH21665,EAX10840,AAH53558 Hs.439620 myr1 MMI-alpha|MMIa|MYH-1c|MYO1B variant protein|OTTHUMP00000165861|myosin I alpha|myosin-I alpha|myosin-Ib protein-coding 737188 MYO1C myosin IC This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq] 1580863 19615732,19729515,9858156,19027848,18599791,17081983,16960872,16957816,16877530,16603771,16344560,16133118,15558034,15342556,15302935,15146197,12477932,11030652,9119401,8884266,8719884,17353931,16514417 4641 NM_001080779,NM_033375,NM_001080950,AC100748,CH471108,AB210015,AI220881,AK172742,AK292910,AK295761,AK304782,BC044891,BC068013,BC127784,BP255642,BP284965,CA422782,CD050346,CN313279,CR625927,DB241937,X98507 NP_001074248,NP_203693,NP_001074419,EAW90619,EAW90620,BAE06097,BAF85599,BAH12181,BAH14256,AAH44891,AAH68013,AAI27785,CAA67131,O00159 Hs.286226 FLJ23903|MMI-beta|MMIb|NMI|myr2 myosin I beta|myosin-I beta|myosin-Ic|nuclear myosin I protein-coding 1349117 MYO1D myosin ID 1580863 19165527,17376794,15489334,12477932,9872452,8884266,17353931,20686608,19913121,20628086 4642 AC007982,AC025211,AC079336,AC084809,CH471147,AB018270,AK026907,AK026920,AK127942,BC030602,BC030796,BC146763,BX537615,NM_015194 NP_056009,EAW80221,EAW80222,EAW80223,EAW80224,EAW80225,BAA34447,AAH30796,AAI46764,CAD97800,O94832,Q7Z3N6,Q8N618 Hs.602063 KIAA0727|myr4 myosin-I gamma|myosin-Id protein-coding 1350355 MYO1E myosin IE 1580863 20860408,7932763,17257598,12477932,11940582,9858156,9367879,8884266,8022818,20379614,16712791 4643 NM_004998,AC092756,AC092757,AC092868,CH471082,AB290177,AK291688,AL707587,BC098392,BQ054624,BX489024,CA429161,CB128582,L29139,U14391 NP_004989,EAW77564,BAG06731,BAF84377,AAH98392,AAA20902,AAA62667,Q12965,Q4KMR3 Hs.654506 HuncM-IC|MGC104638|MYO1C MYO1E variant protein|myosin-IC|myosin-Ie protein-coding 1320254 MYO1F myosin IF 1580863 16344560,9119401,19027848,18391951,17081983,16189514,15489334,14702039,12477932,11804589,8884266,8022818,20881960 4542 DA380582,NM_012335,AC092298,AC092316,AC124902,AC130469,CH471139,U57053,AB210037,AB290178,AJ310570,AK131106,AK301166,BC028071,CR601457,CR607653,L29140,X98411 O00160,Q14779,Q4LE34,Q6ZNI9,Q92827,ABM82002,ABM82011,ABW03355,NP_036467,EAW68909,EAW68910,EAW68911,EAW68912,AAC50726,BAE06119,BAG06732,CAC83948,BAC85156,BAG62755,AAH28071,AAA20903,CAA67058 Hs.465818 myosin-ID|myosin-Ie|myosin-If protein-coding 1314390 MYO1G myosin IG 20653428,16344560,15489334,14702039,12853948,12690205,12477932,11544309,7539551,19041431,20071333,20353833,20509834 64005 NM_033054,AC004847,CH236960,CH471128,AA651942,AB290179,AF380932,AF380933,AK074050,AK074135,AK097912,AK131089,AL832302,BC007370,BC015693,BC041623,BC063854,BC113544,BC117241,BI910371,CR597530,CR605274,DB131347 NP_149043,EAL23748,EAW61068,EAW61069,EAW61070,EAW61071,EAW61072,BAG06733,AAK58092,AAK58093,BAB84876,BAB84961,BAG53548,BAC85139,AAH15693,AAI13545,AAI17242,B0I1T2,Q6ZNK5 Hs.37617 HA2|MGC142104|MHAG minor histocompatibility antigen HA-2|myosin-Ig protein-coding 1350940 MYO1H myosin IH 16344560,14702039,11181995,20864672 283446 NM_001101421,AC007570,AC012384,CH471054,AK094906,AK298093,BU616423,CR747253,DB339279,DC359165,DC401393,DV080092,DV080385,DV080459,DV080460,DV080477 NP_001094891,EAW97858,EAW97859,BAC04454,BAG60378,Q8N1T3 Hs.512008 FLJ37587 myosin-1H|myosin-Ih protein-coding 1349635 MYO3A myosin IIIA The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq] 1580863,1600555 12672820,12032315,17021180,18229949,17074769,17012748,15761153,15302935,15203218,15164054,12477932,10936054,16169070,1262820,16385451,19229853,20090771,20610541 1600555 53904 NM_017433,NG_011635,AL162503,AL358612,AL360217,AL391812,CH471072,AF229172,AK310468,AK310494,AY101367,BC036079,BC045538,BC119811,BC125272,CD628204,CD628208,CK903348 NP_059129,CAH73661,CAH73814,CAH73815,CAH73816,CAD13206,CAI17380,EAW86105,AAF70861,AAM34500,AAH36079,AAH45538,AAI19812,Q0VD65,Q86VY5,Q8NEV4,AAI56363 Hs.662630 DFNB30 myosin-IIIa protein-coding 1352249 MYO3B myosin IIIB 12477932,20200978,20379614,15815621,14702039,12631723,11991710 140469 NM_001171642,NM_138995,NM_001083615,AC007277,AC012594,AC068280,AC093402,AC114794,CH471058,AF369908,AF391554,AF391555,AF391556,AF391557,AF391558,AK055778,BC040019,BC136620,BC144307,BX647895 NP_001165113,NP_620482,NP_001077084,AAY24324,AAY14892,AAY24159,EAX11243,EAX11244,EAX11245,EAX11246,AAL57233,AAO13799,AAO13800,AAO13801,AAO13802,AAO13803,BAB71011,AAI36621,AAI44308,Q8WXR4 Hs.671900 OTTHUMP00000204842|OTTHUMP00000204843|OTTHUMP00000204848|myosin-IIIb protein-coding 731453 MYO5A myosin VA (heavy chain 12, myoxin) This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq] 2302397,1580863,1600819,1600821 19009530,19170196,19521958,19590514,19625176,19692168,19808891,20379614,20203291,10448864,11980908,18029348,9852149,10391919,19320733,19008234,18676680,18478159,18401430,18330901,17898234,17891151,17635110,17487986,17029413,16097034,15788565,15772161,15117313,15059972,14730011,14702039,12897212,12603861,12403814,12148598,12147688,12062444,12058346,12006666,11870218,11856727,11432975,10844022,10733681,10704277,10529054,9826529,9207796,8889548,8188282,8022818,7835087,11546872,11148209,12531900,20631136 2302397,1600819,1600821 4644 NM_001142495,NM_000259,NG_009887,AC010674,AC018902,AC025917,CH471082,AB209487,AB209505,AB290180,AF055459,AF090424,AF090425,AF090426,AF090427,AF090428,AK090859,AK124898,AK303660,AK307600,BU738571,CR598019,EU921839,S74799,U90942,Y07759 NP_001135967,NP_000250,EAW77447,EAW77448,EAW77449,EAW77450,EAW77451,EAW77452,EAW77453,BAD92724,BAD92742,BAF80583,AAC14188,AAC83701,AAC83702,AAC83703,AAC83704,AAC83705,BAG64659,ACH48182,AAB33211,AAD00702,CAA69035,CAA69036,O95317,O95318,Q59FF5,Q9UES3,Q9UES4,Q9UES5,Q9Y4I1,AAI56393,AAI72485 Hs.21213,Hs.596221 GS1|MYH12|MYO5|MYR12 OTTHUMP00000174453|dilute myosin heavy chain, non-muscle|myosin V|myosin, heavy polypeptide kinase|myosin-12|myosin-Va|myoxin protein-coding 736652 MYO5B myosin VB 2312655,1580863,2312656 20186687,19008234,19006234,18724368,18317468,17462998,16344560,16214890,14702039,12477932,11495908,11408590,10574461,8884266,8022818,7757816,2236059,12393859,15004234,12421765,15527767,16713569,19610025,20379614 2312655,2312656 4645 NM_001080467,AC090227,AC091044,AC092705,AC105224,AB032945,AB290160,AK025336,AK093149,AK301976,AL133643,AY274809,BC032511,BC033527,BX641287,CR592301,DA350416,L29143,Z38208,NG_012925 NP_001073936,BAA86433,BAG06714,BAB15114,BAG52664,BAG63387,AAP42074,AAH33527,AAA20906,Q0P656,Q14782,Q7Z7A5,Q9H6Y6,Q9ULV0 Hs.720076 KIAA1119 MYO5B variant protein|myosin 5b|myosin-Vb protein-coding 3476781 MYO5BP1 myosin VB pseudogene 1 441420 AL845472,NG_022974 pseudo 3498030 MYO5BP2 myosin VB pseudogene 2 392335 AL512625,NG_021658 pseudo 3476709 MYO5BP3 myosin VB pseudogene 3 441442 AL772155,NG_021621 pseudo 1320640 MYO5C myosin VC 1580863 19008234,18201966,18079121,11870218,8022818,12477932,19641326,19741097,20379614 55930 AC010674,CH471082,AF161352,AF272390,AK131493,AK301079,AK304136,BC064841,BC144611,L29144,NM_018728 NP_061198,EAW77446,AAF28912,AAF78783,BAG62684,BAG65030,AAH64841,AAA20907,Q14783,Q6P1W8,Q9NQX4,Q9P0E7,AAI67830 Hs.487036 MGC74969 myosin 5C|myosin-Vc protein-coding 1352294 MYO6 myosin VI This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of the inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and recessive hearing loss. [provided by RefSeq] 2314958,2314956,2314963,1600556,1580863 10198040,15231748,18311135,19615732,19855435,20201926,20379614,20936779,19893302,20850010,12857860,10519557,16507995,15247260,16949370,15837803,11447109,16948370,9259267,18543251,18429820,18348273,18212818,18029400,17683200,17635994,17187061,17071605,16908842,16499958,16344560,15146066,15123708,15060111,15044955,14702039,14574404,12893809,12687499,12477932,12050163,11967127,11906161,11728438,11707568,11517222,11468689,9205841,8022818,7929586,7493015,16169070,17353931,9852149,19913121,20576604,20628086,20353999 2314958,2314956,2314963,1600556 4646 NM_004999,NG_009934,AF229111,AL109897,AL136093,AL392166,CH471051,AB002387,AK095294,BC012598,BC146764,BX647397,DB088907,L29145,U90236 NP_004990,AAK00229,CAI19520,CAI19521,CAI19522,CAI42823,CAI42824,CAI42825,CAI42826,EAW48728,EAW48729,EAW48730,EAW48731,BAA20843,AAI46765,AAA20908,AAC51654,Q14784,Q9UM54 Hs.149387 DFNA22|DFNB37|KIAA0389 OTTHUMP00000016761|myosin-VI|unconventional myosin-6 protein-coding 732206 MYO7A myosin VIIA This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1581470,1580863,737744 20132242,15300860,12466270,8622919,7870171,16001398,8842737,19320733,19299023,19074810,18700726,18484607,18463160,18323324,18181211,17960123,17361009,17093394,16679490,16470552,16449806,16400615,15976448,15965244,15823922,15660226,15606003,15221449,15180257,15121790,12588794,12485990,12477932,12221080,12112664,11964381,11921171,11171103,11162241,11080149,10930322,10889203,10364543,10094549,9843659,9718356,9382091,9354784,9171833,9171832,9070921,9002678,8900236,8884267,8884266,8776602,8599365,8022818,7951250,7568224,1478677,11398101,15590698,19324852,19375528,19683999,19948975,20201926,20801516 1581470,737744 4647 NM_000260,NM_001127180,NM_001127179,NG_009086,AP000752,AP001855,CH471076,U61421,AB209629,AB290181,BC023212,BC030215,BC144519,BG108466,L29146,U34227,U39226,U55208,U55209 NP_000251,NP_001120652,NP_001120651,EAW75018,EAW75019,EAW75020,EAW75021,EAW75022,EAW75023,AAC51150,BAD92866,BAG06735,AAA20909,AAC50218,AAB03679,AAC50927,AAC50722,Q13402,Q59F32,AAI72349 Hs.370421 DFNA11|DFNB2|MYOVIIA|MYU7A|NSRD2|USH1B OTTHUMP00000202524|OTTHUMP00000202525|deafness, autosomal dominant 11|deafness, autosomal recessive 2|myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))|myosin viia (usher syndrome 1b (autosomal recessive, severe))|myosin-VIIa protein-coding 1352567 MYO7B myosin VIIB 14702039,12477932,19724895,19851296,20198315,20237496,11181995,8884266,8022818 4648 NM_001080527,AC010976,AB290182,AK000145,AK023543,AK074183,BC035615,BC051761,CR600379,CR627350,L29147,CH471103 NP_001073996,BAG06736,BAB85009,AAH35615,CAI45981,AAA20910,Q5HCH8,Q6PIF6,AAI72225,EAW95322,EAW95323 Hs.154578,Hs.677195 DKFZp686A08248 MYO7B variant protein|OTTHUMP00000203859|myosin-VIIb protein-coding 732261 MYO9A myosin IXA 1580863 15644318,16344560,16204458,14702039,12477932,10409426,16169070,19911011,16712791,20936779,8022818 4649 NM_006901,AC020779,AC022872,AC090454,AC104938,CH471082,AB209841,AB290183,AF117888,AJ001714,AK001923,AK023306,AL137287,BC060886,BC140869,BC144683,BC150294,CB140040,CR596085,DB085692,DQ088983,DQ088984,L29148 NP_008832,EAW77879,EAW77880,BAD93078,BAG06737,AAD49195,CAA04947,BAA91979,BAB14517,CAB70679,AAH60886,AAI40870,AAZ85978,AAZ85979,AAA20911,B2RTY4,Q59EH0 Hs.546268 FLJ11061|FLJ13244|MGC71859 MYO9A variant protein|myosin-IXa|unconventional myosin-9a protein-coding 736717 MYO9B myosin IXB 1580863 16338935,9490638,15644318,16616011,11901422,8907710,19142207,18804983,18361936,18077767,17967566,17948900,17944996,17767555,17667713,17584584,17267307,17176439,17087940,17081983,16948647,16943798,16720215,16423886,16282976,15790807,15146197,14702039,14517787,12477932,11801597,10737800,10580159,9226381,8022818,16169070,16417406,19235913,19911011,20096742,20303373 4650 NM_001130065,NM_004145,AC020908,AC020913,AC092476,CH471106,AB209997,AB290184,AF020267,AF143684,AK002201,AY927576,BC018108,BC061639,BC094864,BF905466,BI001923,BI827217,CN284963,CR598001,DR006748,L29149,NG_013068 NP_001123537,NP_004136,EAW84572,EAW84573,BAE06079,BAG06734,AAC26597,AAF00119,BAA92132,AAH18108,AAA20912,Q13459,Q14788,Q4LE74,Q8WVD2 Hs.123198 CELIAC4|MYR5 myosin-IXb|unconventional myosin IXb|unconventional myosin from rat 3|unconventional myosin-9b protein-coding 737429 MYOC myocilin, trabecular meshwork inducible glucocorticoid response MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq] 1600838,1600840,1600842,1580863 20664688,20806035,12447164,12442283,12411077,12362081,12356829,12215093,12190780,12126543,12060848,12019210,11992263,11923248,11910561,11853639,11807810,11774072,11773029,11773026,11738824,11595024,11527946,11133859,10990486,10819638,10644174,12470758,10330365,9863594,9792882,9697688,9548973,9535666,9521427,9497363,9490287,9446806,9361308,9345106,9328473,9280311,9005853,8749308,8513321,8279471,18952665,18852424,18841557,18776955,18728751,18591929,18537981,18449353,18436825,18427622,18385784,18334962,18303389,18214788,18195223,17984096,17966125,17960117,17893668,17893664,17679945,17663725,17650508,17615537,17605937,17563717,17562996,17516541,17499207,17438518,17417611,17417609,19023451,17321191,17304254,17224759,9169133,17317787,19407846,19390644,19287508,19260140,19234343,19188438,19180258,19148291,19145250,19096718,17197538,17122126,16902400,16710414,16688110,16681888,16636654,16458712,16431959,16401791,16392033,16374045,16358725,16316624,16289162,16280977,16226543,16198165,16148883,15953455,15944158,15851979,15823921,15795224,17210859,15733270,15723004,15652337,15646469,15534471,15489334,15483649,15354075,15342693,15338275,15255110,15194423,15161538,15137056,15025728,14767915,14740993,14702039,14688426,14680806,12912696,12872267,12868033,12860809,12851728,12817590,12789574,12782842,12697062,12671463,12671462,12615070,12522550,12504739,12477932,10196380,19662433,19668597,19688280,19784393,20021252,20107173,20198978,20447966,20801516,21031026,20668460 1600838,1600840,1600842 4653 NM_000261,NG_008859,AB006688,AF049793,AY599652,CH471067,Z97171,Z97174,Z98750,AF001620,AK097310,AK300924,AK300943,AK301297,AK315443,BC029261,D88214,FJ227302,FJ237046,FJ237047,U85257 NP_000252,BAA24532,AAC14264,AAT09137,EAW90903,CAB09899,CAD92590,AAC51725,BAC04997,BAG62556,BAG62572,BAG62854,BAG37831,AAH29261,BAA23531,ACI42983,ACI62292,ACI62293,AAC52051,Q6PKX1,Q8N854,Q99972,ABM83341,ABM86555 Hs.436037 GLC1A|GPOA|JOAG|JOAG1|TIGR|myocilin mutated trabecular meshwork-induced glucocorticoid response protein|myocilin protein-coding 1344327 MYOCD myocardin Myocardin is a smooth and cardiac muscle-specific transcriptional coactivator of serum response factor. When expressed ectopically in nonmuscle cells, myocardin can induce smooth muscle differentiation by its association with serum response factor (SRF; MIM 600589).[supplied by OMIM] 1580863 16054032,17215356,19276386,19098903,18852265,18772130,18451334,18028454,17938287,17579192,17360478,17292825,16625196,16344560,16151017,15907818,15014501,14970199,14702039,12756293,12640126,12397177,11439182,12477932,16141410,16818234,19342595,19776005,19801679,19883264,19952936,20068148,19797053,20560679,20458751,20385216 93649 NM_153604,NM_001146312,NM_001146313,AC005358,CH471108,AF532596,AK096753,AK097821,AK128608,AK292885,AY764180,BC126307,BC143391,BX640673,DB226467,NG_012972,AK095846 NP_705832,NP_001139784,NP_001139785,EAW89970,EAW89971,AAN33040,BAC05177,BAF85574,AAV33439,AAI26308,AAI43392,CAE45805,Q5UBU5,Q6N065,Q8IZQ8 Hs.567641 MYCD OTTHUMP00000064674|myocardin protein-coding 1353183 MYOD1 myogenic differentiation 1 This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq] 1580863 19188441,17011493,18765668,19553684,19723804,20333749,20966410,1846704,3175662,19453261,19299559,18676376,18599480,18078839,17693064,17378682,17014844,16858404,16841087,16614355,16435141,16099183,16007194,15251938,15231748,15163661,14767572,12947115,12887892,12716875,12657651,12477932,12397066,12196028,12105204,11784080,11756408,11711431,11684023,11532390,11463815,11285237,11279181,11025438,10944526,10924525,10764802,10757985,10619020,10601020,10583555,10471746,10406466,10082523,10022835,9862959,9826778,9774340,9710583,9692544,9659901,9546368,9482738,9418854,9407021,9343420,9242638,9238849,9235903,9234731,9184158,9001254,9001211,8999959,8922385,8759016,8617811,8576241,8548800,8381715,8380166,2583111,2550138,2315312,2253873,2176177,1850513,1849142,1649701,1406681,1335366,1320026,1310896,18674781,15029197,12145280,9528857,11371506,8797820,15674337,8621548,10915743,15173318,19733896,20139084,20195544,15923648 4654 NM_002478,AC124301,AF027148,CH471064,AI300241,AK314968,BC064493,BF205042,BF304059,BT007157,CR612159,X17650,X56677 NP_002469,AAC29001,EAW68427,BAG37469,AAH64493,AAP35821,CAA35640,CAA40000,P15172 Hs.181768 MYF3|MYOD|PUM|bHLHc1 class C basic helix-loop-helix protein 1|myf-3|myoblast determination protein 1|myogenic factor 3 protein-coding 1343142 MYOF myoferlin Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq] 1580863 10607832,18502764,18495154,17702744,17081983,15489334,15302935,15164054,14702039,12477932,12168954,11790298,10995573,10574462,19913121,20628086,11959863,16385451,18029348,19228595,19494235,20379614 26509 NM_133337,NM_013451,AL360229,AL365364,CH471066,AB033033,AF182316,AF207990,AK075258,AK093890,AL096713,BC014612,BC033616,BC040110,BC052617,HH962133 NP_579899,NP_038479,CAH72370,CAH72371,CAH72372,CAH72373,CAI41206,CAI41207,CAI41208,EAW50073,EAW50074,EAW50075,EAW50076,BAA86521,AAF27176,AAG23737,BAG52097,BAG52779,CAB46370,AAH40110,AAH52617,Q9NZM1,CBX51418 Hs.602086 FER1L3|FLJ36571|FLJ90777 fer-1-like 3, myoferlin|fer-1-like protein 3|myoferlin protein-coding 736712 MYOG myogenin (myogenic factor 4) Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq] 1580863 1850513,10329008,19470832,19453261,19372547,19095803,18708938,18676376,17531403,17468105,17378694,17378682,16614355,16608842,16453911,15489334,15322112,15084602,14997318,12716875,12477932,12207009,10757985,10471746,10082523,9242638,9234731,8797820,8617811,2583111,2163343,1962752,1846704,1659574,1649701,1329097,1325437,8548800,15674337,19188441,20213728,9418854,15923648,16424906 4656 NM_002479,AC105940,AF050501,CH471067,CS018101,CS025616,X62155,AW469592,BC053899,BF204429,BT007233,X17651,HI988279,HI988299 NP_002470,AAG22573,EAW91463,EAW91464,CAI58665,CAI61685,CAA44080,AAH53899,AAP35897,CAA35641,P15173,Q9HCA4,ACE87311,ACE86629,CBY88748,CBY88752 Hs.2830 MYF4|MYOGENIN|bHLHc3 Myogenic factor-4; myogenin|class C basic helix-loop-helix protein 3|myf-4|myogenic factor 4|myogenin protein-coding 1346217 MYOM1 myomesin 1, 185kDa The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 7505783,6537951,15890201,12972258,12878677,12477932,10744711,10036188,9806852,7588733,15571722,20379614 8736 NM_003803,AP005329,AP005431,CH471113,AF185573,AI221348,AJ621424,AK125322,AK302444,BC116183,BC116184,X69090,NM_019856 CAA48833,P52179,Q9NZL8,NP_062830,NP_003794,EAX01683,EAX01684,AAF63190,CAF18565,BAC86128,BAG63741,AAI16184 Hs.464469 MGC134946|MGC134947|SKELEMIN 190 kDa connectin-associated protein|190 kDa titin-associated protein|EH-myomesin|myomesin (M-protein) 1 (190kD)|myomesin 1 (skelemin) (185kD)|myomesin 1 (skelemin) 185kDa|myomesin 1 (skelemin) 185kda|myomesin family member 1|myomesin-1 protein-coding 1343651 MYOM2 myomesin (M-protein) 2, 165kDa The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq] 1580863 7505783,18029348,16344560,15342556,12972258,12477932,9933576,9529381,8889548 9172 NM_003970,AC125453,CH471181,AJ708170,AK297890,AL596730,BC052969,BM720057,BP258208,BP260324,DA900083,X69089 NP_003961,EAW51488,EAW51489,EAW51490,EAW51491,BAG60211,AAH52969,CAA48832,P54296 Hs.720741,Hs.443683 TTNAP 165 kDa connectin-associated protein|165 kDa titin-associated protein|M-band protein|M-protein|myomesin family member 2|myomesin-2|titin-associated protein, 165 kD protein-coding 1320744 MYOM3 myomesin family, member 3 19023099,17975119,14702039,12477932 127294 AK125972,AK128233,BC014671,BC067101,BX537911,BX647453,BX647455,BX647644,NM_152372,AL591178,CH471134,AF086254,AK093280 BAC04119,BAC86370,BAC87343,AAH14671,AAH67101,CAD97895,CAH10377,CAH10376,Q5VTT5,Q6ZU56,NP_689585,CAH72089,CAH72090,EAW95108,EAW95109,EAW95110 Hs.523413 FLJ35961|MGC71483|RP11-293P20.1 myomesin-3 protein-coding 1321551 MYOT myotilin This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. 1599673 19418025,12809483,16076904,10958653,10369880,19458539,19151983,19047374,19027924,17698502,16801328,16793270,16674563,16380616,16344560,16122733,15489334,15111675,12499399,12477932,12428213,11038172,10486214,9828127,1676560,1598902,15967462,19913121,20628086 1599673 9499 NM_006790,NM_001135940,NG_008894,AC106791,CH471062,AF133820,AF144477,AK300076,AK300088,AK307620,AK312733,BC005376,DA896167 NP_006781,NP_001129412,EAW62177,EAW62178,AAD29051,AAD44754,BAG61880,BAG61891,BAG35604,AAH05376,Q9UBF9,ABW03808,ACT64576,ACT64577 Hs.84665 LGMD1|LGMD1A|TTID 57 kDa cytoskeletal protein|OTTHUMP00000223461|myofibrillar titin-like Ig domains protein|myotilin|titin immunoglobulin domain protein (myotilin) protein-coding 1351397 MYOZ1 myozenin 1 19472918,10984498,10427098,11114196,11171996,11842093,16076904,17434779,17254821,16189514,15489334,12477932 58529 NM_021245,AC073389,AF243390,CH471083,AF240633,AJ278124,AK300683,AK308200,AL359210,AY013297,BC025753 NP_067068,AAG27296,EAW54506,AAG24509,CAB92967,BAG62366,CAB94568,AAG38940,AAH25753,Q9NP98,ABM82475,ABM85663 Hs.238756 CS-2|FATZ|MYOZ calsarcin-2|filamin-, actinin- and telethonin-binding protein|myozenin-1 protein-coding 1316992 MYOZ2 myozenin 2 19447967,19472918,20332099,10427098,11114196,11842093,16076904,18591919,17434779,17347475,16189514,15489334,15342556,12477932,11171996,11161785,9110174,8619474 51778 NM_016599,AC092656,AC107048,AC108164,AF267997,CH471229,AF007160,AF249873,AJ252149,AK313856,AY013295,BC005195,BC017402,BC020932,BP370492,BT007214 NP_057683,AAG13932,EAW73662,AAC19160,AAF63623,CAB92965,BAG36584,AAG38938,AAH05195,AAH17402,AAH20932,AAP35878,Q9NPC6 Hs.381047 C4orf5|CS-1 FATZ related protein 2|FATZ-related protein 2|calcineurin-binding protein calsarcin-1|calsarcin-1|muscle-specific protein|myozenin-2 protein-coding 1318422 MYOZ3 myozenin 3 1580863 10427098,11842093,16344560,15489334,15342556,12477932,19472918 91977 NM_133371,NM_001122853,AC008453,CH471062,AF052497,AF480443,AJ277961,AJ300586,AJ300587,AK313873,BC069380,BC069553,BC074870,BC074871,BP360917,DB054183,DB277496 NP_588612,NP_001116325,EAW61713,EAW61714,AAL79336,CAC81912,CAC83076,CAC83077,BAG36601,AAH69380,AAH69553,AAH74870,AAH74871,Q8TDC0 Hs.91626 CS-3|CS3|FRP3 FATZ related protein 3|FATZ-related protein 3|calsarcin 3|calsarcin-3|myozenin-3 protein-coding 1350442 MYP1 myopia 1 (X-linked, Bornholm eye disease included) 4657 1354266 MYP2 myopia 2 (high grade, autosomal dominant) 9634508 4658 1344162 MYP3 myopia 3 (high grade, autosomal dominant) 9792869 8782 1318320 MYPN myopalladin MYPN is a component of the sarcomere that tethers nebulin (MIM 161650) in skeletal muscle and nebulette (MIM 605491) in cardiac muscle to alpha-actinin (see ACTN2; MIM 102573) at the Z lines (Bang et al., 2001 [PubMed 11309420]).[supplied by OMIM] 20395239,18006477,16964243,16381901,15489336,15164054,14702039,14583192,12482578,12477932,11309420,11230166,11076863,16385451,20379614 84665 NM_032578,AC016395,AC024258,AL512429,CH471083,AF328296,AK027343,AL832002,AL834247,BC142609,BC144333,BC144334,BQ009261,BX647637,BX647640,BX648564,AL832379 NP_115967,CAH73747,CAH73748,EAW54267,EAW54268,AAK50625,BAB55048,CAD89906,CAD91155,CAD38923,AAI42610,Q86TC9,CAL37991,CAL38603,AAI67818 Hs.55205 MYOP 145 kDa sarcomeric protein|OTTHUMP00000019695|myopalladin|sarcomeric protein myopalladin, 145 kDa (MYOP) protein-coding 1606912 MYPOP Myb-related transcription factor, partner of profilin 15615774,12477932 339344 NM_001012643,AC008623,BC044311 NP_001012661,AAH44311,Q86VE0 Hs.515478 P42pop myb-related protein p42POP|myb-related transcription factor, partner of profilin|p42 Myb-related transcription factor, partner of profilin|partner of profilin protein-coding 1351320 MYRIP myosin VIIA and Rab interacting protein 1302768,1580863 11964381,19270261,18478159,17827149,15489334,14517322,12477932,12221080,12590134,12485990,21130836,20861866,17474147,17903308,20379614 1302768 25924 NM_015460,AC099331,AC099557,AC104163,AC104185,AC104188,AC110718,AC130439,CH471055,AB083783,AF396687,AK125334,AK126013,AK294714,AK310972,AK312412,AK316068,AL050090,BC092512,BC109311,BC109312 NP_056275,EAW64595,EAW64596,BAC15555,AAM43954,BAG54185,BAG54276,BAH11857,BAH14439,CAB43262,AAH92512,AAI09312,AAI09313,Q32M41,Q32M42,Q8NFW9 Hs.594535 DKFZp586F1018|FLJ44025|MGC130034|MGC130035|SLAC2-C|SLAC2C OTTHUMP00000209207|OTTHUMP00000209209|Slp homologue lacking C2 domains|exophilin-8|myosin-VIIa- and Rab-interacting protein|rab effector MyRIP|slp homolog lacking C2 domains c|synaptotagmin-like protein homologue lacking C2 domains-c protein-coding 1349284 MYSA myasthenic (Lambert-Eaton) syndrome antigen A 8494331 4655 1602839 MYSM1 Myb-like, SWIRM and MPN domains 1 18669648,17707232,17428495,16710414,12477932,11572484 114803 NM_001085487,AL035411,AL450024,AB067502,AK126835,AK292919,BC037536,BX537912,BX648168,CR627323,CR749450 NP_001078956,CAI21908,CAH70737,BAB67808,BAG54377,BAF85608,CAD97896,CAH10370,CAH18287,Q5VVJ2,AAI67849 Hs.477495 2A-DUB|2ADUB|DKFZp779J1554|DKFZp779J1721|KIAA1915|RP4-592A1.1 histone H2A deubiquitinase MYSM1|myb-like, SWIRM and MPN domain-containing protein 1 protein-coding 1323009 MYST1 MYST histone acetyltransferase 1 The MYST family of histone acetyltransferases, which includes MYST1, is named for the founding members MOZ (MYST3; MIM 601408), yeast YBF2 and SAS2, and TIP60 (HTATIP; MIM 601409). All members of this family contain a MYST region of about 240 amino acids with a canonical acetyl-CoA-binding site and a C2HC-type zinc finger motif. Most MYST proteins also have a chromodomain involved in protein-protein interactions and targeting transcriptional regulators to chromatin (Neal et al., 2000 [PubMed 10786633]).[supplied by OMIM] 2316155 17189187,19854137,11742995,11965546,18058815,17967868,17694080,16227571,16024812,15960975,15923642,15498874,15489334,15342556,14702039,12477932,12397079,10786633,9373149,8125298,17182677,16096645,20479123,19578370,20018852,19913121,20628086 2316155 84148 NM_032188,NM_182958,AC009088,AC135050,CH471192,AA682878,AF217501,AF260665,AF289578,AK021872,AK024102,AK225660,AK291106,AL050395,BC037773,BP342476,CD364543,CR596643,CR596671,CR625141 NP_115564,NP_892003,EAW52157,EAW52158,AAL56648,AAF72665,AAL55762,BAB13924,BAB14827,BAF83795,CAH56416,AAH37773,Q9H7Z6 Hs.533803 FLJ14040|KAT8|MOF|hMOF MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1|MYST-1|histone acetyltransferase MYST1|ortholog of Drosophila males absent on the first (MOF)|probable histone acetyltransferase MYST1 protein-coding 737003 MYST2 MYST histone acetyltransferase 2 1580863 19913121,20628086,17081983,16964243,16645042,16428461,16387653,16189514,15963510,19187766,20053357,20129055,10930412,15383276,16169070,10438470,19393168,19372580,18832067,18684714,18250300,17954561,15489334,14702039,12477932,12034878,11978794,11931763,11278932,17182677,16096645 11143 NM_007067,AC015795,AC027801,CH471109,AF074606,AF140360,AF217502,AK023890,AK122932,AK293976,AK294014,AK294052,AK294367,AK294602,AK294836,AK295914,AK297212,BC015485,BC032640,CR618482,DC306552,NM_001199155,NM_001199156,NM_001199157,NM_001199158 NP_008998,EAW94658,EAW94659,EAW94660,EAW94661,AAC99368,AAD42348,AAL56649,BAG51236,BAG53804,BAG57346,BAG57375,BAG57401,BAG57629,BAG57789,BAG57945,BAG58702,BAH12525,AAH32640,O95251,ABM81809,ABM84963,NP_001186084,NP_001186085,NP_001186086,NP_001186087 Hs.21907 HBO1|HBOA|KAT7 MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2|MYST-2|OTTHUMP00000220716|OTTHUMP00000220718|histone acetyltransferase MYST2|histone acetyltransferase binding to ORC1 protein-coding 1312590 MYST3 MYST histone acetyltransferase (monocytic leukemia) 3 1580863 19690564,11742995,11965546,8782817,19001415,18818702,18794358,18754862,18528428,17805331,17296583,17081983,16916647,16713569,16613851,16344560,15657427,14702039,12771199,12676584,12477932,11313971,10824998,9558366,8849440,17182677,16096645,20581860,17083329,20800603,17925393,16387653,16702405 7994 NM_006766,NM_001099412,NM_001099413,AC090571,CH471080,AK027361,AK128323,BC018011,BC142659,BC142959,BP348860,CR621706,DA257528,DA442995,DA758316,U47742 NP_006757,NP_001092882,NP_001092883,EAW63239,EAW63240,AAI42660,AAI42960,AAC50662,Q92794,AAI72379 Hs.491577 KAT6A|MGC167033|MOZ|RUNXBP2|ZNF220 MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3|MYST-3|Monocytic leukemia zinc finger protein|histone acetyltransferase MYST3|runt-related transcription factor binding protein 2|runt-related transcription factor-binding protein 2|zinc finger protein 220 protein-coding 1353532 MYST4 MYST histone acetyltransferase (monocytic leukemia) 4 11965546,10497217,18794358,17460191,17081983,15489334,15302935,15271374,12477932,12168954,11157802,9205841,17182677,16096645,16385451,16387653,16713569,18029348,20379614 23522 BC150270,BC150618,AC018511,AC063962,CH471083,AA416904,AB002381,AF113514,AF119230,AF119231,AF217500,AK074816,AL832065,BC014143,BC021128,BC048199,NM_012330 AAH48199,AAI50271,AAI50619,Q69YR9,Q8WYB5,NP_036462,EAW54557,EAW54558,EAW54559,BAA20837,AAF00095,AAF00099,AAF00100,AAL56647,CAH10408,AAH14143,AAH21128 Hs.35758,Hs.599543 DKFZp313G1618|FLJ90335|KAT6B|KIAA0383|MORF|MOZ2|qkf|querkopf MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4|MOZ-related factor|MYST-4|OTTHUMP00000019866|OTTHUMP00000019867|OTTHUMP00000019869|OTTHUMP00000019870|histone acetyltransferase MORF|histone acetyltransferase MOZ2|histone acetyltransferase MYST4|monocytic leukemia zinc finger protein-related factor protein-coding 1312603 MYT1 myelin transcription factor 1 The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq] 1580863 12738781,18029348,9268380,9001210,1280325,19204086,18950845,17330875,14962745,12524179,12477932,11780052,10470851,10048485,9373037,8530187,7519254,10504341 4661 NM_004535,AL121581,CH471077,AB020642,BC018917,BC053638,BC062313,CR613817,CR624439,M96980 NP_004526,CAC17005,EAW75155,EAW75157,EAW75158,BAA74858,AAH53638,AAH62313,AAA59897,Q01538,Q6P6D5,Q7Z5W2 Hs.279562 C20orf36|MTF1|MYTI|PLPB1 myelin transcription factor 1|myelin transcription factor I|proteolipid protein binding protein|proteolipid protein-binding protein protein-coding 731726 MYT1L myelin transcription factor 1-like 1580863 18940311,15489334,12477932,12168954,10470851,9373037,8889548,18839057,20379614,21048971 23040 AC008276,AC009232,AC009471,AC011301,AC093390,AC106046,AB029029,AB073885,AF036943,AK299571,AK307797,AL133024,BC031690,BC042833,BC043230,BC071612,BC137272,BC137273,BC150281,BF439754,BF530661,BM715930,NM_015025,BC109113 NP_055840,BAA83058,AAF14051,BAG61510,AAH43230,AAH71612,AAI37273,AAI37274,AAI50282,Q49A74,Q9UL68 Hs.434418,Hs.669852 NZF1 myT1-L|myelin transcription factor 1-like protein|neural zinc finger transcription factor 1 protein-coding 1349072 MYT2 myelin transcription factor 2 9790734,9373037,10818241,7735128 8827 O15150,Q16301 AF006822,S76853 AAB62700,AAB34231,O15150,Q16301 Hs.123048 protein-coding 1318132 MZF1 myeloid zinc finger 1 1580863 10777584,1860835,19196427,18029348,17851584,17081983,16950398,16297876,15670815,15541732,15528990,15453830,12477932,10974541,1719120,20145042 7593 NM_003422,AC016629,AC016630,AF161886,CH471135,AB209481,AF055077,AF055078,AK308893,AK310381,BC007777,BC053316,NM_198055,BQ446552,BU620994,M58297 NP_932172,NP_003413,AAF80465,AAF80466,EAW72614,EAW72615,EAW72616,EAW72617,EAW72618,BAD92718,AAD55809,AAD55810,AAH07777,AAH53316,AAA59898,P28698,Q59FH9,Q7Z729 Hs.399810 MZF-1|MZF1B|ZNF42|ZSCAN6|Zfp98 myeloid zinc finger 1|zinc finger and SCAN domain-containing protein 6|zinc finger protein 42 (myeloid-specific retinoic acid-responsive) protein-coding 1603048 Magmas mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction 17207965,20877624,15704001,15489334,14702039,12477932,11750097,10810093,16169070,20719856,20053669 51025 BG715429,NM_016069,AC012676,CH471112,CS072359,AF151894,AF349455,AK026514,BC005024,CR457362 ADQ32402,NP_057153,EAW85315,CAI93497,AAD34131,AAL57767,BAB15494,AAH05024,CAG33643,Q9Y3D7 Hs.644614 CGI-136|MAGMAS|Magmas|TIM16|TIMM16|Tim16 magmas-like protein|mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction|mitochondria-associated granulocyte macrophage CSF-signaling molecule|mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction|mitochondrial import inner membrane translocase subunit TIM16|mitochondrial import inner membrane translocase subunit Tim16|presequence translocated-associated motor subunit PAM16 protein-coding 1606767 N-PAC cytokine-like nuclear factor n-pac 16352664,15851553,12477932 84656 NM_032569,AC020663,CH471112,AF217521,AF244907,AF326966,AK307834,AY352585,BC003693,BC022809,BC032855,BC047223,BC048291,BC063039,BC064940,BC073868,CB529066,CK430984,CR933687,DB492328,AK296842 NP_115958,EAW85251,EAW85252,EAW85253,EAW85254,EAW85255,EAW85256,EAW85257,AAF67632,AAQ14242,AAK15524,AAQ57265,AAH03693,AAH32855,AAH47223,AAH64940,Q49A26,Q9NZ78,BAG59409 Hs.387255 BM045|HIBDL|N-PAC|NP60 3-hydroxyisobutyrate dehydrogenase-like protein|cytokine-like nuclear factor n-pac|nuclear protein 60 kDa|nuclear protein 60kDa|nuclear protein NP60|nuclear protein of 60 kDa|putative oxidoreductase GLYR1 protein-coding 1605706 N4BP1 NEDD4 binding protein 1 19074885,14702039,12477932,11717310,9734811,15231747,17114934,17592138 9683 NM_153029,AC023813,AC026470,AL831882,CH471092,AB014515,AK001464,AK026937,AK056383,AK094234,AK124782,BC051897,BC108288,BC152472 NP_694574,EAW82729,BAA31590,BAG50916,AAI08289,AAI52473,O75113,AAI60019 Hs.511839 FLJ31821|KIAA0615|MGC176730 NEDD4-binding protein 1 protein-coding 1603992 N4BP2 NEDD4 binding protein 2 This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. [provided by RefSeq] 17081983,14702039,12477932,11717310,10718198,12730195,18487259,20308539,20936779,17626640,17761849,18804481 55728 NM_018177,AC095057,AC098591,CH471069,AB037834,AB371584,AK001542,AY267013,BC126466 NP_060647,EAW92957,EAW92958,EAW92959,BAA92651,BAG48313,BAA91748,AAP22172,AAI26467,Q86UW6 Hs.391463 B3BP|FLJ10680|KIAA1413 BCL-3 binding protein|BCL-3-binding protein|NEDD4-binding protein 2|OTTHUMP00000218538 protein-coding 1604555 N4BP2L1 NEDD4 binding protein 2-like 1 12477932,8812419,19692168,19773279 90634 NM_001079691,NM_052818,AL137247,CH471075,Z73359,AI783635,AL049785,AL049786,AL049787,AL049788,BC022188,BC068049,BC125050,BI551105,BX648509,U50527 NP_001073159,NP_438169,CAI13190,CAI13191,CAI13192,EAX08502,EAX08503,EAX08504,EAX08505,EAX08506,EAX08507,EAX08508,CAC94789,CAB42443,CAB42444,CAB42445,CAB42446,AAH22188,AAI25051,Q5TBK1,Q8WTU5,Q9UQP6,Q9Y273,AAI72323 Hs.161220 CG018 NEDD4-binding protein 2-like 1|OTTHUMP00000018227 protein-coding 1603408 N4BP2L2 NEDD4 binding protein 2-like 2 19506020,19615732,14702039,12477932,8895530,8812419 10443 AK093514,AK123084,AK310280,AK312924,AL049783,AL049802,BC010643,BC131631,BG435390,AK298546,CR601845,NM_033111,NM_014887,AL137247,AL353665,CH471075,Z73359,AF530063,BG621272,BT007172,CB217966,CR596312,U50529,U50532,Z36834 AAQ09947,CAB42441,CAB42563,AAH10643,AAI31632,BAG60743,NP_149102,NP_055702,CAI13193,CAI11042,EAX08514,EAX08515,CAC94790,AAP35836,AAC50875,Q6ZV26,Q92802,Q96KV2,Q9Y3H6,ABM92242,ABW03285 Hs.507680 92M18.3|CG005|FLJ36195|FLJ41089|FLJ43077|PFAAP5 92M18.3 (novel protein)|CG016|NEDD4-binding protein 2-like 2|OTTHUMP00000218569|OTTHUMP00000218570|phosphonoformate immuno-associated protein 5|protein from BCRA2 region protein-coding 4145242 N4BP3 NEDD4 binding protein 3 11717310,12477932,15324660,15489334,19615732,9205841 23138 AB002339,AC136632,AK127224,AK295663,BC027715,BC053323,CA487765,CH471165,CR613906,NM_015111 AAH53323,BAA20799,BAC86891,BAG58525,EAW53851,EAW53852,EAW53853,EAW53854,NP_055926,O15049 Hs.101761 KIAA0341 NEDD4-binding protein 3 protein-coding 1323512 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative) The protein encoded by this gene belongs to the methyltransferase superfamily. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 20379614,18539146,14702039,12477932,10830953,9373149,8125298 29104 NM_182749,NM_013240,AF227510,AL163248,CH471079,AF139682,AK092128,AK225515,AK314100,BC011554,BQ021620,CR612892,CR616062,CR620576 NP_877426,NP_037372,CAB90428,EAX09939,EAX09940,EAX09941,AAD38520,BAG36794,AAH11554,Q9Y5N5 Hs.163846 C21orf127|HEMK2|MGC19995|MTQ2|N6AMT|PRED28 N6-DNA-methyltransferase|chromosome 21 open reading frame 127|hemK methyltransferase family member 2|m.HsaHemK2P|n(6)-adenine-specific DNA methyltransferase 1 protein-coding 1606676 N6AMT2 N-6 adenine-specific DNA methyltransferase 2 (putative) 18390568,14702039,12477932,17207965 221143 NM_174928,AL512652,CH471075,AK316604,BC018091,CR595343,DQ823637 NP_777588,CAH71794,EAX08277,EAX08278,EAX08279,EAX08280,BAG38191,AAH18091,ABK41021,Q8WVE0,ADQ31719 Hs.26674 ESP13 N(6)-adenine-specific DNA methyltransferase 2 protein-coding 1316359 NAAA N-acylethanolamine acid amidase This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10610717,19014633,18806270,18020949,17980170,16341674,15655246,15610181,15489334,12477932,8889548,1446826 27163 NM_001042402,NM_014435,AC110615,CH471057,AB161353,AK024677,AK301132,AK309271,AV723847,BC006388,BC011854,BM682921,BM763257,DR156596,M92449,W47597 NP_001035861,NP_055250,EAX05756,EAX05757,EAX05758,EAX05759,EAX05760,BAD88528,BAG62724,AAH06388,AAA60119,Q02083 Hs.437365 ASAHL|PLT ASAH-like protein|N-acylethanolamine-hydrolyzing acid amidase|N-acylsphingosine amidohydrolase (acid ceramidase)-like|N-acylsphingosine amidohydrolase-like|OTTHUMP00000219430|OTTHUMP00000221103|acid ceramidase-like protein protein-coding 1314164 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. [provided by RefSeq] 1580863 10085079,16303743,15146197,12477932,12204797,11905994,19678840,20379614 10003 NM_005467,AP000648,CH471065,CS051189,AJ012370,AK075390,AL133614,BC027594,BC038840,BC067793,BC096316,BC096317,BC096318,BC099646,CN355388 NP_005458,EAW66865,CAI72090,CAB39967,BAG52126,AAH27594,AAH38840,AAH96316,AAH96317,AAH96318,AAH99646,Q4G181,Q4KKV4,Q8IUX3,Q9Y3Q0 Hs.503560 MGC116996|MGC26353|NAADALASE2|NAALADASE2 N-acetylated alpha-linked acidic dipeptidase II|N-acetylated-alpha-linked acidic dipeptidase 2|N-acetylated-alpha-linked acidic dipeptidase II|NAALADase II protein-coding 732561 NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1 1580863 12477932,9388249,10085079,8889548 10004 NM_005468,AP003068,CH471076,AF010141,AJ012371,AK309536,AK311090,BC143643,BC143644,BG757994,BM681269 NP_005459,EAW74340,AAB87645,CAB39968,Q9UQQ1,AAI40322 Hs.13967 I100|NAALADASEL 100 kDa ileum brush border membrane protein|N-acetylated-alpha-linked acidic dipeptidase-like protein|NAALADase L|ileal dipeptidylpeptidase|n-acetylated alpha-linked acidic dipeptidase-like (ileal peptidase i100) protein-coding 1606935 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 19132087,15168106,12477932,20379614 254827 NM_207015,AC008180,AC069418,AC078803,AC083804,AC104150,AC112510,AC119040,AC119732,AC119744,AC135037,AJ607395,AJ607396,AJ607397,AJ607398,AJ607399,AJ607400,AJ607401,AK131044,AK308416,AL832144,AL832931,BC057243,BN000432 NP_996898,CAE54973,CAE54974,CAE54975,CAH56310,AAH57243,CAE75743,Q58DX5,Q6H9J7,AAI56166,AAI56974 Hs.565848,Hs.603646,Hs.660010 N-acetylated alpha-linked acidic dipeptidase 2|NAALADase L2|OTTHUMP00000211440|inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 protein-coding 736700 NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 729281,1580863 20379614,8668170,18029348,17853270,17081983,15815621,15489334,15146197,12477932,12030330,11687510,11018254,9418898,8889548,7624335 729281 4664 NM_005966,AC006460,AF052744,CH471058,AF045451,AF045452,AK292446,AK296549,AK313542,BC035724,CF137213,CN288145,U47007 NP_005957,AAX93076,AAC28325,EAX10862,EAX10863,EAX10864,EAX10865,AAC25085,AAC25086,BAF85135,BAG59173,AAH35724,AAC50588,Q13506,ABM82118,ABW03366 Hs.723892 EGR-1-binding protein 1|EGR1 binding protein 1|NGFI-A-binding protein 1|OTTHUMP00000205859|OTTHUMP00000205860|OTTHUMP00000205866|transcriptional regulatory protein p54 protein-coding 1323313 NAB2 NGFI-A binding protein 2 (EGR1 binding protein 2) This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 19423540,19888474,20237496,20406964,20438785,8668170,17081983,16574654,16344560,16260776,15489334,12477932,12427750,12030330,11567222,11135623,9774344,9722618,9126479,8649813,19913121,20628086 4665 NM_005967,AC023237,AF268380,AJ011081,CH471054,U66574,AK314229,BC007756,BC065931,CR603613,CR622165,DA496543,U48361,X70991 NP_005958,AAF72545,CAA09472,EAW96987,EAW96988,EAW96989,BAG36900,AAH65931,AAC50589,CAA50318,Q15742 Hs.159223 MADER|MGC75085 EGR-1-binding protein 2|EGR1 binding protein 2|NGFI-A-binding protein 2|melanoma-associated delayed early response protein protein-coding 1318533 NACA nascent polypeptide-associated complex alpha subunit 1580863 8047162,16201836,16169070,15784678,15489334,15345747,15196207,14702039,12699894,12689679,12684039,12477932,12406326,12209604,12109594,12011100,11042152,10982809,10224091,9488446,9488445,9373149,8835540,8698236,8125298,19609276,20214399 4666 AF054187,AK090650,AK096699,AK223085,AK293209,AK311904,AY034001,AY605660,AY911673,BC105120,BC105122,BC106041,BG709003,CD246364,CR450295,CR595197,CR599103,CR600016,CR600421,CR600671,CR603573,CR613486,CR618000,CR619360,CR624198,CR626308,DB487006,X80909,NM_001113202,NM_001113203,NM_001113201,NM_005594,AC117378,CH471054 EAW96961,AAC99403,BAG52208,BAD96805,BAG56749,BAG34845,AAK57544,AAV83778,AAX14393,AAI05121,AAI05123,AAI06042,CAG29291,NP_001106673,NP_001106674,NP_001106672,NP_005585,EAW96960,CAA56869,Q13765 Hs.505735 HSD48|MGC117224|NACA1 NAC-alpha|alpha-NAC|nascent polypeptide-associated complex subunit alpha|nascent-polypeptide-associated complex alpha polypeptide protein-coding 1605228 NACA2 nascent polypeptide-associated complex alpha subunit 2 17207965,7622554,18391951,16201836,15489334,12477932,12406326,10982809,20546612 342538 NM_199290,AC002994,AJ278883,DQ120612,BC062710 ADQ32052,NP_954984,CAC06614,ABB92399,AAH62710,Q9H009 Hs.591178 ANAC|MGC71999|NACAL IgE autoantigen alpha-nascent polypeptide-associated complex|NAC-alpha-like|alpha-NAC protein|alpha-NAC-like|hom s 2.01 protein|nascent polypeptide-associated complex subunit alpha-2|nascent polypeptide-associated complex subunit alpha-like|nascent polypeptide-associated complex, alpha polypeptide, 2|nascent-polypeptide-associated complex alpha polypeptide-like protein-coding 1625101 NACA3P NACA family member 3 pseudogene 9847074 389240 NG_005843,AC106872 NACA3 pseudo 1625090 NACAD NAC alpha domain containing 9205841,8889548,12853948 23148 NM_001146334,AC013416,CH236960,AB002361,BM680676,BM728120,EG328798 NP_001139806,BAA20818,O15069 Hs.96633 KIAA0363 NAC-alpha domain-containing protein 1|OTTHUMP00000214258 protein-coding 1605022 NACAP1 nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 19615732,17353931,12477932 83955 NR_002182,AP001208,AF315951,BC069062,BC069411,BC069542,BC074958,BC074959 AAG50269,Q9BZK3 Hs.567608 FKSG17 pseudo 1345487 NACB nascent-polypeptide-associated complex beta polypeptide 8047162 732621 NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing Members of the BTB/POZ family of transcriptional regulators, including BTBD14B, contain a conserved motif in the N-terminal region critical for protein-protein interactions and assembly of high molecular mass complexes (Korutla et al., 2002 [PubMed 11906783]).[supplied by OMIM] 737633,1580863 16033423,15489334,15302935,14702039,12477932,11906783,17804717,17130457,17391728,19305429,18483383,18347169,18029348,19121354,19407373,20372782,20869761 737633 112939 AC011446,CH471106,AF395817,AK094702,AK123056,AK226064,BC055396,BU508302,AC005546,CR623895,NM_052876 EAW84352,EAW84353,EAW84354,AAK83885,AAH55396,Q96RE7,NP_443108 Hs.531614 BEND8|BTBD14B|FLJ37383|NAC-1|NAC1 BEN domain containing 8|BTB (POZ) domain containing 14B|BTB/POZ domain-containing protein 14B|nucleus accumbens-associated protein 1|transcriptional repressor NAC1 protein-coding 1319559 NACC2 NACC family member 2, BEN and BTB (POZ) domain containing 737633,1580863 20379614,15489334,15164053,12477932,16341674 737633 138151 NM_144653,AL138781,AL355574,AL591038,CH471090,BC015649,BM791117 NP_653254,CAI14117,CAI11059,EAW88193,EAW88194,EAW88195,EAW88196,EAW88197,AAH15649,Q96BF6,ABM84400,ABM87147 Hs.112895 BEND9|BTBD14|BTBD14A|MGC23427 BEN domain containing 9|BTB (POZ) domain containing 14A|BTB/POZ domain-containing protein 14A|NAC-2|OTTHUMP00000022564|nucleus accumbens-associated protein 2 protein-coding 1606514 NADK NAD kinase NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM] 11594753,17353931,14704851,17855339,16710414,16189514,16169070,15489334,14702039,12477932,9110174,8619474,15146197,16341674,20379614 65220 AL031282,CH471183,AF070630,AF250320,AK023114,AK095043,AK290161,AK291599,AK291728,AK307645,NM_023018,AY090771,BC001709,BC022063,BC024219,CR595666,BM842058,BX647173,CN349189,NM_001198993,NM_001198994,NM_001198995,AK296722 NP_075394,CAA20354,CAI20045,CAI20046,EAW56151,EAW56152,EAW56153,EAW56154,EAW56155,AAG44568,BAB14412,BAF82850,BAF84288,BAF84417,AAM01195,AAH01709,AAH24219,O95544,Q5QPS4,Q6PJ22,Q9H2P2,NP_001185922,NP_001185923,NP_001185924,BAH12420,Q5QPS5 Hs.654792 DKFZp686L22239|FLJ13052|FLJ37724|FLJ54695|FLJ77769|FLJ78247|FLJ78307|MGC1900|RP1-283E3.6|dJ283E3.1 NAD kinase|OTTHUMP00000001109|poly(P)/ATP NAD kinase protein-coding 1602697 NADSYN1 NAD synthetase 1 Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM] 20541252,14704851,19724895,19851296,20198315,20418485,16712791,12547821,15231747,16189514,15489334,14702039,12477932,10737800,9373149,8125298,19913121,20628086 55191 NM_018161,AP000867,AP002387,CH471076,AB091316,AK001493,AK022436,AK094022,AK097946,AK225700,AL512694,AW804480,BC003638,BC003666,BC020977,BE730392,BI460954,BM554316,CB141878,CR457286 NP_060631,EAW74792,EAW74793,BAC65148,BAA91722,BAB14034,BAG53556,AAH03638,AAH03666,CAG33567,Q6IA69 Hs.556986 FLJ10631|FLJ36703|FLJ40627 NAD(+) synthase|NAD(+) synthetase|glutamine-dependent NAD synthetase|glutamine-dependent NAD(+) synthetase protein-coding 733941 NAE1 NEDD8 activating enzyme E1 subunit 1 The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 734592,634557,1300048,1580863 12740388,8626687,10722740,12694406,14557245,15361859,10207026,18627766,16620772,16503656,16400609,16341674,15489334,14702039,14690597,12646924,12477932,11230166,10597293,10493829,16169070,17353931,19615732,19795456 734592,634557 8883 CR611333,CR614006,U50939,CR597312,NM_003905,NM_001018159,AC004638,AC044802,CH471092,AK097680,AK298159,AK307677,AK312784,AL136798,AY197612,BC000480,BC013301,BC041323,BM045535,BM785899,NM_001018160 AAC50477,Q13564,ABM83667,ABM86913,NP_001018170,NP_003896,NP_001018169,AAC23784,EAW83042,EAW83043,BAG53511,BAH12735,BAG35647,CAB66732,AAP35030,AAH00480,AAH13301 Hs.460978 A-116A10.1|APPBP1|HPP1|ula-1 APP-BP1|NEDD8-activating enzyme E1 regulatory subunit|NEDD8-activating enzyme E1 subunit|amyloid beta precursor protein binding protein 1, 59kDa|amyloid beta precursor protein-binding protein 1, 59 kDa|amyloid beta precursor protein-binding protein 1, 59kD|amyloid protein-binding protein 1|app-binding protein 1|proto-oncogene protein 1|protooncogene protein 1 protein-coding 1606990 NAF1 nuclear assembly factor 1 homolog (S. cerevisiae) 16618814,16601202,17135485,15302935,14702039,12477932,20797317,19615732,19896111,20010695 92345 NM_138386,BC008207,CR611986,CR622366,NM_001128931,AC022272,CH471056,AK097352,AK308601 AAH08207,Q96HR8,NP_612395,NP_001122403,EAX04843,EAX04844 Hs.129095,Hs.672113,Hs.720218 H/ACA ribonucleoprotein complex non-core subunit NAF1|hNAF1 protein-coding 1314403 NAGA N-acetylgalactosaminidase, alpha- NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq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s.75372 D22S674|GALB Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)|OTTHUMP00000199655|OTTHUMP00000199657|alpha-N-acetylgalactosaminidase|alpha-galactosidase B protein-coding 1312859 NAGK N-acetylglucosamine kinase N-acetylglucosamine kinase (NAGK; EC 2.7.1.59) converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. NAGK belongs to the group of N-acetylhexosamine kinases and is a prominent salvage enzyme of amino sugar metabolism in mammals.[supplied by OMIM] 1580863 15231747,16189514,10824116,17010375,16344560,15987957,15815621,15489334,14702039,12665801,12477932,12112843,9468341,9373149,8982040,8125298,11741987,15231748 55577 NM_017567,AC007881,CH471053,AA641666,AJ242910,AK001812,AK092876,AK097223,AK172854,AK222645,AL832837,BC001029,BC005371,BC036843,BU599058,CR457271,CR591536,CR608802,CR609075,CR615452,CR622455,CR622456,DB117133,AK297224,BC131781 NP_060037,AAY14748,EAW99780,CAB61848,BAA91923,BAD18815,BAD96365,AAH01029,AAH05371,CAG33552,Q6ZMB4,Q9UJ70,ABM83600,ABM86842,BAG59707 Hs.7036 GNK|HSA242910 N-acetyl-D-glucosamine kinase|OTTHUMP00000203497|OTTHUMP00000205285|glcNAc kinase protein-coding 1351904 NAGLU N-acetylglucosaminidase, alpha- This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq] 1580863 8650226,18218046,15933803,15489334,14671302,12709672,12477932,12202988,11793481,11668611,11237686,11068184,10857861,10833408,10094189,9950362,9443878,8776591,8703123,6781343,1783617,20138557,20585324 4669 NM_000263,NG_011552,AC067852,AY401970,CH471152,L78465,U43572,AI299657,BC053991,BF435029,BQ012843,CR623854,L78464,U40846,U43573 NP_000254,EAW60832,EAW60833,AAB36605,AAC50512,AAH53991,AAB36604,AAB06188,AAC50513,P54802,Q14769,Q59FD0 Hs.50727 MPS-IIIB|MPS3B|NAG|UFHSD N-acetyl-alpha-glucosaminidase|alpha-N-acetylglucosaminidase protein-coding 1319056 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and trans-Golgi network. [provided by RefSeq] 1580863 10551838,15976452,15489334,14702039,12477932,12058031,11723124,11408573,9110174,8922957,8619474,7786023,16344560,20147709,9722550 51172 NM_016256,AC026458,CH471112,AF052111,AF187072,AK025570,AK026122,AK092889,AK127952,AK314320,BC012194,CR598113,CR599974,CR601621,DA879815,AK302916 NP_057340,EAW85245,EAW85246,AAF08273,BAG54605,BAG36968,AAH12194,Q9UK23,BAG64081 Hs.21334 APAA|UCE N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase|alpha-N-acetylglucosaminyl phosphodiesterase|lysosomal alpha-N-acetylglucosaminidase|mannose 6-phosphate-uncovering enzyme|phosphodiester alpha-GlcNAcase protein-coding 1349520 NAGS N-acetylglutamate synthase The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq] 1600560,1580863 20877624,20303810,12459178,17703373,17510757,17421020,16321554,15878741,15714518,15050968,14702039,12754705,12594532,12477932,12447942,12049647,19913121,20628086,16169070,19533169 1600560 162417 NM_153006,NG_008106,AC023855,AY116537,CH471178,AI241153,AK074407,AK091938,AK300923,AK314432,AY116538,AY158070,BC111713,BF589712 NP_694551,AAM75385,EAW51643,BAG62555,BAG37046,AAM75386,AAN76451,AAI11714,Q2NKP2,Q8N159 Hs.8876 AGAS|ARGA|MGC133025 N-acetylglutamate synthase, mitochondrial|amino-acid acetyltransferase protein-coding 1348051 NAIF1 nuclear apoptosis inducing factor 1 737633 16378748,18339812,16344560,15489334,15164053,14702039,203245,12477932 737633 203245 NM_197956,AL360268,CH471090,AI864878,AK122729,AL833392,BC013371,BC021580,BC047160,DA661395 NP_931045,CAH73132,EAW87735,EAW87736,EAW87737,BAG53693,CAH10588,AAH21580,Q69YI7 Hs.373606,Hs.722082 C9orf90|DKFZp762G199|RP11-379C10.2|bA379C10.2 nuclear apoptosis-inducing factor 1 protein-coding 1343112 NAIP NLR family, apoptosis inhibitory protein This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 8552191,7813013,19287802,19198020,18974562,18842367,18759060,18566024,18533950,18453601,18339188,18071605,17932457,17923748,17903057,17510375,17222062,15372022,15340105,15280366,12477932,12445469,12127562,11955612,11912351,10544044,10369862,9503025,7552146,10899114,15107016,11865055,17613533,19488400,19923725,20044205,20171302 4671 NM_004536,NG_008724,AB048533,AC005031,AC044797,AC139494,AC142525,CH878390,U80017,AB048534,AB209123,AK124511,AK295115,AK309627,AK311046,BC136273,BC143761,NM_022892,U19251,U21913 NP_075043,NP_004527,AAC62261,EAW50510,AAC52047,BAB87181,BAD92360,BAG58144,AAI36274,AAI43762,AAC52045,AAA64504,Q13075,Q8TDZ4 Hs.654500,Hs.710305 BIRC1|FLJ18088|FLJ42520|FLJ58811|NLRB1|psiNAIP NLR family, BIR domain containing 1|baculoviral IAP repeat-containing 1|baculoviral IAP repeat-containing protein 1|baculoviral iap repeat-containing 1|neuronal apoptosis inhibitory protein|nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1|psi neuronal apoptosis inhibitory protein protein-coding 733715 NALCN sodium leak channel, non-selective NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM] 1580863 19308021,17448995,16344560,14702039,12498692,12477932,12364586,11991713,20674038,19535918,19575010,20379614,20889312 259232 NM_052867,AE014293,AL138707,AL354891,AL356778,CH471085,AF339780,AK002089,AK055506,AK094390,AK094669,AK126621,AK126718,AK172752,AY141972,BC012128,BC028390,BC064343,DA128114 NP_443099,AAN16023,CAI40711,CAH73919,CAI16648,EAX09045,EAX09046,EAX09047,EAX09048,EAX09049,EAX09050,BAG51013,BAG51529,BAG52908,BAG54350,BAG54365,BAD18738,AAN10255,AAH28390,AAH64343,Q8IZF0 Hs.525146 CanIon|FLJ23913|FLJ44659|FLJ44764|MGC74524|VGCNL1|bA430M15.1 four repeat voltage-gated ion channel|sodium leak channel non-selective protein|voltage gated channel like 1|voltage gated channel-like protein 1 protein-coding 1351636 NAMPT nicotinamide phosphoribosyltransferase This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein is an adipokine that is localized to the bloodstream and has various functions, including the promotion of vascular smooth muscle cell maturation and inhibition of neutrophil apoptosis. It also activates insulin receptor and has insulin-mimetic effects, lowering blood glucose and improving insulin sensitivity. The protein is highly expressed in visceral fat and serum levels of the protein correlate with obesity. This gene has a pseudogene on chromosome 10. [provided by RefSeq] 737633,1642336,1642337,1642340,1642345,1642341,2311119,1580863 20470278,20470283,8289818,19513556,19408173,19402217,19302375,19300429,19185944,19166999,19100714,19095760,19074645,19009499,19005759,18996492,18957417,18940394,18823127,18787378,18728403,18714344,18691043,18686225,18660489,18486613,18410550,18363885,18356846,18272217,18270432,18252866,18248642,18239648,18083357,18034779,17984105,17952840,17931620,17904242,17889652,17582143,17556870,17512309,17429683,17408594,17392604,17340225,17335820,17334748,17327330,17307730,17284735,17261426,17237424,17189536,17177135,17090638,17003359,17003355,16956691,16922702,16868228,16828081,16814166,16802343,16783377,16736128,16735449,16733497,16720654,16718635,16701870,16636125,16531748,16496121,16489932,16449335,16414972,16394088,16234302,16188281,16186392,16021090,15947248,15815727,15592455,15489334,15124023,14704851,14702039,12853948,12782293,12690205,12555668,12477932,9847074,1702972,14499622,19650786,20091460,20392873,20059442,21061834,19583971,20712903,20720266,20885390,20606733,20621376,17207965,20482384,20598369,20724478,18241953,19887595,19913121,20608974,20628086,19073361,19093738,19099366,19111298,19200966,19222486,19284295,19389865,19403191,19488934,19498324,19533482,19571557,19572235,19654329,19666527,19727662,19751774,19765775,19804767,19811274,19819277,19819904,19834878,19855187,19912992,19929281,19936064,19948877,20010475,20019453,20046156,20085562,20237496,20346233,20346239,20358348,20383745,20451405,17983582,11241162,20506278,20823688,19900033,20409603,20562859,20121389,20605615 737633,1642336,1642337,1642340,1642345,1642341,2311119 10135 NM_005746,AC007032,CH236947,CH471070,AI299587,AK023341,AK292851,AK304085,AL832518,BC020691,BC072439,BC106046,BI859562,CR593609,CR606862,L29050,U02020,HD117879,HH762803,CS463832,CS545604,FB775574 NP_005737,AAF19249,AAQ96862,EAL24399,EAL24400,EAW83382,EAW83383,EAW83384,BAF85540,BAH14102,CAH56351,AAH72439,AAI06047,AAA17884,P43490,ADQ32034,CBX74360,CBX78820,CAM12699,CAN36300,CAV30744 Hs.489615 1110035O14Rik|DKFZp666B131|MGC117256|PBEF|PBEF1|VF|VISFATIN NAmPRTase|OTTHUMP00000179150|nicotinamide phosphoribosyltransferase|pre-B cell-enhancing factor|pre-B-cell colony enhancing factor 1|pre-B-cell colony-enhancing factor 1|pre-b-cell colony enhancing factor 1 protein-coding 1349230 NAMSD neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome) 4672 1347686 NANOG Nanog homeobox 20622153,20539761,16153702,16501172,15108323,19415763,19350681,19279133,19229867,19139263,18957414,18946985,18772339,18682241,18593985,18441325,18439155,18419830,18393632,18388306,18199879,18187129,18086680,18039466,17506876,17314394,17211451,17196939,16923129,16540082,20173672,20427424,16391521,16000880,15983365,15982323,15749924,15615706,15582778,15233988,14990856,14702039,12927049,12787505,12787504,12787492,20510497,20581802,20581804,12477932,19102659,19427902,19458492,19483629,19522013,19567677,19633292,19639208,19751112,19834952,19933152,20071344,20103622,20458727,19036726,19060217,20211142,20698766 79923 NM_024865,AC006517,CH471116,CQ860374,AB093576,AK022643,AK290896,AY230262,AY578089,BC069807,BC098275,BC099704 NP_079141,EAW88649,EAW88650,EAW88651,CAH25962,BAC76999,BAB14151,BAF83585,AAP49529,AAT81526,Q9H9S0,AAI60187,ABZ92376 Hs.635882 hNanog|homeobox protein NANOG|homeobox transcription factor Nanog|homeobox transcription factor Nanog-delta 48 protein-coding 2881521 NANOGNB NANOG neighbor 12477932 360030 AC006517,AY151139,NM_001145465 AAP76323,NP_001138937,Q7Z5D8 Hs.558004 NANOG neighbor homeobox|homeobox C14|homeobox protein C14 protein-coding 1349441 NANOGP1 Nanog homeobox pseudogene 1 1323844,1580863 16469101,15233988,15108323,14702039,20427424 1323844 404635 NG_006522,AC007536,AC124891,AK097770,AY455283 BAC05167,AAS57555,Q8N7R0 Hs.635882 NANOG2 pseudo 1342719 NANOGP10 Nanog homeobox pseudogene 10 15233988,15108323 349372 NG_004096,AL023574,AY455280 NANOGP5 pseudo 1604902 NANOGP11 Nanog homeobox pseudogene 11 15233988 414135 NG_004103,AL589963 pseudo 1346849 NANOGP2 Nanog homeobox pseudogene 2 1323844 15233988,15108323,414131 1323844 414131 NG_004099,AC097461,AY455279 NANOGP4 pseudo 1342922 NANOGP3 Nanog homeobox pseudogene 3 15233988 340217 NG_004095,AL591034 pseudo 1352067 NANOGP4 Nanog homeobox pseudogene 4 1323844 15233988,15108323 1323844 414132 NG_004100,AC004593,AY455277,CH236948 NANOGP2 pseudo 1344781 NANOGP5 Nanog homeobox pseudogene 5 15233988 414133 NG_004101,AL137072 pseudo 1604903 NANOGP6 Nanog homeobox pseudogene 6 15233988 414134 NG_004102,AL133353 pseudo 1350164 NANOGP7 Nanog homeobox pseudogene 7 1323844 15233988,15108323 1323844 414130 NG_004098,AL133373,AY455278 NANOGP3 pseudo 1604926 NANOGP8 Nanog homeobox pseudogene 8 16623708,15489334,15233988,15108323,12477932,19415763 388112 NG_004093,AC021231,AY455284 Q6NSW7 MGC119250|NANOG|NANOGP1|PN8 pseudo 1343493 NANOGP9 Nanog homeobox pseudogene 9 15233988,15108323 349386 NG_004097,AL591595,AY455281 NANOGP6 pseudo 1317831 NANOS1 nanos homolog 1 (Drosophila) 1580863 12690449,19168546,18223680,17047063,16573738,15164054,10862698 340719 AL157788,CH471066,AF086393,AF275269,AF458985,AI276145,NM_199461 CAI14718,CAI14719,EAW49409,AAL36982,AAQ04765,Q5T9H5,Q8WY41,AAI56180,NP_955631 Hs.591918 NOS1 EC_Rep1a|NOS-1|OTTHUMP00000020587|nanos homolog 1 protein-coding 1354099 NANOS2 nanos homolog 2 (Drosophila) 12477932,19168545,15489334,14615895,12947200,12690449 339345 NM_001029861,AC008623,BC042883,BC117484,BC117486 NP_001025032,AAH42883,AAI17485,AAI17487,P60321,ADR82819 Hs.434218 NOS2 NOS-2|nanos homolog 2 protein-coding 1315421 NANOS3 nanos homolog 3 (Drosophila) 17418157,15057824,12947200,12477932,8889548,19565640 342977 NM_001098622,AC020916,BC101209,BC101210,BI793167,CK821052,DN993610 NP_001092092,AAI01210,AAI01211,P60323 Hs.127982 MGC120114|NANOS1L|NOS3 NOS-3|nanos homolog 3 protein-coding 1345004 NANP N-acetylneuraminic acid phosphatase 1580863 16237198,16344560,15489334,14702039,12477932,11780052,8889548,17207965 140838 NM_152667,AL031673,CH471133,AI693731,AK055472,AK074335,AL833116,BC003415,BC022552,CF126993,DA858639 NP_689880,CAI22444,EAX10081,BAG51524,BAB85055,AAH22552,Q8TBE9,ACE87355,ACE86671,ADQ31846 Hs.143137,Hs.606268 C20orf147|HDHD4|MGC26833|dJ694B14.3 N-acylneuraminate-9-phosphatase|Neu5Ac-9-Pase|haloacid dehalogenase-like hydrolase domain containing 4|haloacid dehalogenase-like hydrolase domain-containing protein 4 protein-coding 1323660 NANS N-acetylneuraminic acid synthase This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq] 1580863 20562859,10749855,16597820,16274664,15489334,15164053,14702039,12477932,10873658,693772,20800603 54187 CR608894,NM_018946,AL137073,CH471105,AF161387,AF257466,AK001659,AK091184,AK316608,AL526281,BC000008,BC019315,BQ446501,CR593110,CR600247,CR602868,CR618616,CR624153 NP_061819,CAI13886,CAI13887,CAI13888,EAW58866,EAW58867,EAW58868,EAW58869,AAF28947,AAF75261,BAA91818,BAG38195,AAH00008,AAH19315,Q9NR45,Q9P0B2,ABM83093,ABM86287 Hs.522310,Hs.665191 SAS N-acetylneuraminate synthase|N-acetylneuraminate-9-phosphate synthase|N-acetylneuraminic acid phosphate synthase|sialic acid phosphate synthase|sialic acid synthase protein-coding 737279 NAP1L1 nucleosome assembly protein 1-like 1 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing of this gene results in several transcript variants; however, not all have been fully described. [provided by RefSeq] 724386,1580863 11940655,8297347,17339334,17081983,17081065,16964243,16565220,16287874,15489334,15345747,15308774,14966293,14702039,12477932,7821789,16169070,11073993,20002496 724386 4673 NM_139207,AC011611,CH471054,NM_004537,AF086080,AF088017,AF300335,AK122670,AK295147,AK297500,AK298936,AK304787,AL162068,BC002387,BC015599,BC018565,BT007023,CR591294,CR593037,CR594775,CR598501,CR606323,CR608944,CR609205,CR610070,CR611076,CR620230,D28430,DC321631,M86667,AK021751 NP_004528,NP_631946,EAW97314,EAW97315,EAW97316,EAW97317,EAW97318,EAW97319,EAW97320,EAW97321,AAG24631,BAG53656,BAH11990,BAH12595,BAH12906,BAH14258,CAB82405,AAH02387,AAP35669,BAA05796,AAC37544,P55209,Q9H2B0,ABM81627,ABM84476,ABM84811 Hs.524599,Hs.695185 FLJ16112|MGC23410|MGC8688|NAP1|NAP1L|NRP HSP22-like protein interacting protein|NAP-1 related protein|NAP-1-related protein|hNRP|nucleosome assembly protein 1-like 1 protein-coding 3255047 NAP1L1P1 nucleosome assembly protein 1-like 1 pseudogene 1 729561 AP000821,NG_021838 pseudo 3398787 NAP1L1P2 nucleosome assembly protein 1-like 1 pseudogene 2 100128894 AC006157,NG_021905 pseudo 3051039 NAP1L1P3 nucleosome assembly protein 1-like 1 pseudogene 3 100130335 AC117472,NG_022267 pseudo 1345486 NAP1L2 nucleosome assembly protein 1-like 2 This gene encodes a member of the nucleosome assembly protein (NAP) family. The function of this family member is unknown; however, mouse studies suggest that it represents a class of tissue-specific factors interacting with chromatin to regulate neuronal cell proliferation. [provided by RefSeq] 1580863 8789438,15489334,12477932,10932189,12116227,20211142,8889548 4674 NM_021963,AC004074,CH471104,AB027013,AF136178,AK291297,AK303676,AK316569,BC026325,CR457095,NG_013274,CB242638 NP_068798,EAW98670,BAA84706,AAP97268,BAF83986,BAG64673,BAG38158,AAH26325,CAG33376,Q9ULW6 Hs.66180,Hs.719281 BPX|MGC26243 brain specific gene BPX|brain-specific protein, X-linked|nucleosome assembly protein 1-like 2 protein-coding 1343656 NAP1L3 nucleosome assembly protein 1-like 3 This gene encodes a member of the nucleosome assembly protein (NAP) family. It is linked closely to a region of genes responsible for several X-linked mental retardation syndromes. Alternatively spliced transcript variants have been found for this gene, but the biological validity of the variants has not been determined. [provided by RefSeq] 724394,1580863 8976385,15772651,14702039,12477932,9417904,9373149,8125298,16344560 724394 4675 NM_004538,AL009173,CH471115,AK090772,AK095682,AK223621,AK315176,AL119710,BC034954,BC094729,CR610053,D50370,U92991,NG_013275,AA463251,DA294849,DA486883 NP_004529,CAA15661,EAX02782,BAG52225,BAG53108,BAD97341,BAG37617,AAH34954,BAA08904,Q53EL8,Q8IYV1,Q99457,ABM81729,ABM84884 Hs.21365 MB20|MGC26312|NPL3 nucleosome assembly protein 1-like 3 protein-coding 1313394 NAP1L4 nucleosome assembly protein 1-like 4 This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq] 1580863 20705733,20002496,20201924,20644730,9325046,18281699,17081983,16565220,15489334,15368365,14702039,12477932,11073993,10764593,8923002,12089333 4676 NM_005969,AC131971,CH471158,U51281,AA573896,AB500094,AK056828,AK093928,AK095320,AK299515,AK312599,AK316242,AK316324,AK316548,BC022090,CR608677,CR617283,CR624939,U77456 NP_005960,EAX02532,EAX02533,EAX02534,BAH95827,BAH14613,BAG61467,BAG35491,BAH14695,BAH14919,AAH22090,AAC50870,Q99733,ABW03840,ABW03535 Hs.501684,Hs.695395 MGC4565|NAP1L4b|NAP2|NAP2L|hNAP2 NAP-2|nucleosome assembly protein 1-like 4|nucleosome assembly protein 1-like 4b|nucleosome assembly protein 2 protein-coding 1348887 NAP1L5 nucleosome assembly protein 1-like 5 1580863 20622171,17353931,17291163,16344560,16189514,16169070,14702039,12477932,12383514,20098747,20936779 266812 NM_153757,AC108065,CH471057,AK054689,AL834329,BC022544,BC039416,BC104883,CR591413,DA041186,DB542768 NP_715638,EAX06025,BAB70793,CAD38997,AAI04884,Q8ND87,Q96NT1 Hs.12554 DRLM 1110020M21Rik|down-regulated in liver malignancy|nucleosome assembly protein 1-like 5 protein-coding 2305802 NAP1L6 nucleosome assembly protein 1-like 6 15772651,14702039 645996 NR_027291,AC004389,AK090915,NG_021429 A6NFF2 Hs.617486 FLJ33596 pseudo 1625092 NAP5 Nck-associated protein 5 17474147,19010793,15489334,14702039,12477932,9344857,20936779,18821565,19488044,20379614,19913121,20628086,20889312 344148 NM_207363,AC010890,AC010974,AC011243,AC011755,AC011996,AC012489,AC016909,AB005217,AK057980,AK092189,AK124659,AY946007,AY946008,BC110831,NM_207481,CA438539 NP_997364,NP_997246,BAA22433,BAC03824,BAC85920,AAY23346,AAY23347,AAI10832,O14513,AAI72401 Hs.537329 ERIH1|ERIH2|FLJ34870|NAP5 NAP-5|Nck associated protein 5|OTTHUMP00000204126|OTTHUMP00000204279|nck-associated protein 5|peripheral clock protein 2 protein-coding 733353 NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha The 'SNARE hypothesis' is a model explaining the process of docking and fusion of vesicles to their target membranes. According to this model, membrane proteins from the vesicle (v-SNAREs) and proteins from the target membrane (t-SNAREs) govern the specificity of vesicle targeting and docking through mutual recognition. Once the 2 classes of SNAREs bind to each other, they form a complex that recruits the general elements of the fusion apparatus, namely NSF (N-ethylmaleimide-sensitive factor) and SNAPs (soluble NSF-attachment proteins), to the site of membrane fusion, thereby forming the 20S fusion complex. Alpha- and gamma-SNAP are found in a wide range of tissues and act synergistically in intra-Golgi transport. The sequence of the predicted 295-amino acid human protein encoded by NAPA shares 37%, 60%, and 67% identity with the sequences of yeast, Drosophila, and squid alpha-SNAP, respectively. Platelets contain some of the same proteins, including NSF, p115/TAP, alpha-SNAP, gamma-SNAP, and the t-SNAREs syntaxin-2 and syntaxin-4, that are used in many vesicular transport processes in other cell types. Platelet exocytosis uses a molecular mechanism similar to that used by other secretory cells, such as neurons, although the proteins used by the platelet and their modes of regulation may be quite different. [provided by RefSeq] 737787,1580863 20562859,16354670,8455721,16189514,15980433,15790807,15542541,15489334,15029241,12477932,10683148,10075705,9817754,9697855,9614193,9507000,9417091,9362506,9349823,9325254,9269766,8973549,1601890,1315316,7622514,7553862,9506515,15327778,11031247,11252894,15272311,8636227,20089838 737787 8775 BC091511,BQ948081,BT019568,BU168063,CR590241,CR590968,CR591989,CR593591,CR595321,CR595466,CR595865,CR596698,CR597857,CR600985,CR603138,CR603798,CR604334,CR605446,CR605749,CR606227,CR607595,CR608932,CR612768,CR613630,CR613768,CR615344,CR617474,CR620868,CR622385,CR622644,CR624444,CR624846,U39412,AC073548,CH471126,AA807920,AK098401,AK126519,AK292244,AK308633,AK310114,AK310185,AY927609,BC001165,BC007432,BC028234,NM_003827 AAH28234,AAH91511,AAV38375,AAC80170,P54920,NP_003818,EAW57489,EAW57490,EAW57491,EAW57492,EAW57493,EAW57494,EAW57495,EAW57496,EAW57497,EAW57498,BAF84933,AAH01165,AAH07432 Hs.126938,Hs.727492 SNAPA SNAP-alpha|alpha-SNAP|alpha-soluble NSF attachment protein protein-coding 1317299 NAPB N-ethylmaleimide-sensitive factor attachment protein, beta 737634,1580863 15489334,17207965,14702039,12477932,11780052,9817754,9697855,8455721,1315316 737634 63908 NM_022080,AL096677,CH471133,AI285959,AK022817,AK124876,AK125811,AK126340,AK294703,AK295791,AK296385,AK307709,AL834445,BC008463,BC026310,BC047426,BC060840,BX648330,DC335439 NP_071363,CAI20156,EAX10150,EAX10151,EAX10152,EAX10153,EAX10154,EAX10155,EAX10156,EAX10157,BAG57860,BAG58612,BAG59056,CAD39105,AAH47426,AAH60840,Q4G0M0,Q9H115,ACE87668,ACE86979,ADQ33036 Hs.269471 MGC26066|MGC48335|SNAP-BETA|SNAPB beta-soluble NSF attachment protein protein-coding 1603533 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM] 20885390,17207965,18067139,15820312,14702039,14634025,12477932,20369362,19715685 222236 NM_001122838,NM_198990,AC007683,CH471070,AB112352,AK023244,AK304644,AY357337,BC037350,BC057294,BC071604,CR615836,CR936639,HH770856 ADQ31931,NP_001116310,NP_945341,EAW83314,EAW83315,BAD02399,BAG65422,AAR13673,AAH37350,AAH71604,CAI56779,Q4G0T7,Q6IQ20,CBX86138 Hs.324271 DKFZp781D1098|FMP30|NAPE-PLD N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D|NAPE-hydrolyzing phospholipase D|OTTHUMP00000211700|OTTHUMP00000211703 protein-coding 1320824 NAPG N-ethylmaleimide-sensitive factor attachment protein, gamma This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process. 1580863 11278501,8455721,19429185,19328558,16395123,16344560,15592455,15489334,14702039,12554740,12477932,10683148,9269766,9165027,9110174,8889548,8619474,1601890,1315316,17207965,20562859 8774 NM_003826,AP001099,CH471113,AF131752,AK023725,AK126942,AK294038,AK314495,BC001889,CA312045,CK005676,CR536554,CR602036,DA296597,U78107 NP_003817,EAX01582,EAX01583,EAX01584,BAG57390,BAG37095,AAH01889,CAG38791,AAB69753,Q6FHY4,Q99747,ADQ32289 Hs.464622 GAMMASNAP SNAP-gamma|gamma SNAP|gamma-soluble NSF attachment protein|soluble NSF attachment protein protein-coding 1602193 NAPRT1 nicotinate phosphoribosyltransferase domain containing 1 Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM] 17604275,14702039,12477932,18029348,14704851,18821565 93100 NM_145201,AC067930,CH471162,AB242230,AF258565,AK097002,AY214325,AY214326,AY214327,BC006284,BC014190,BC032466,CR591708,CR592925 NP_660202,EAW82236,EAW82237,EAW82238,EAW82239,EAW82240,BAF75377,AAG23768,AAP69603,AAP69604,AAP69605,AAH06284,AAH32466,Q6XQN6,Q8WY82 Hs.493164 PP3856 FHA-HIT-interacting protein|NAPRTase|OTTHUMP00000211079|nicotinate phosphoribosyltransferase|nicotinate phosphoribosyltransferase domain-containing protein 1|nicotinic acid phosphoribosyltransferase protein-coding 1347374 NAPSA napsin A aspartic peptidase The activation peptides of aspartic proteinases plays role as inhibitors of the active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The pronapsin A gene is expressed predominantly in lung and kidney. Its translation product is predicted to be a fully functional, glycosylated aspartic proteinase precursor containing an RGD motif and an additional 18 residues at its C-terminus. [provided by RefSeq] 1580863 19740516,9877162,18216060,18195689,15048123,14702039,13129928,12698189,12477932,12151090,10591213,10580106,10580105,9561193,8163018,21164283 9476 NM_004851,AC008655,CH471135,AF090386,AF098484,AF200345,AK055569,AK308013,AK314364,BC017842,BC029397,CR619860 NP_004842,EAW71847,EAW71848,EAW71849,AAD04917,AAD13215,AAF17081,AAH17842,O96009,ABM82919,ABM86109 Hs.512843 KAP|Kdap|NAP1|NAPA|SNAPA ASP4|TA01/TA02|asp 4|aspartyl protease 4|napsin-1|napsin-A|pronapsin A protein-coding 1344768 NAPSB napsin B aspartic peptidase pseudogene 1580863 12477932,12151090,10591213,9877162 256236 NR_002798,AC008655,AF090387,AF098485,AF200344,AK300884,AK310134,BC006149,BC019048,BC032360,BC040958,BC053864,BC065203,BC085008,BC111705 AAF17080,BAG62526 Hs.636624 NAP1L|NAP2|NAPB pseudo 1605690 NARF nuclear prelamin A recognition factor Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq] 17207965,20970119,10514485,18680752,17654502,17326827,16344560,15667261,14702039,12477932,2123808,20379614 26502 NM_031968,NM_012336,NM_001083608,AC124287,AC132938,CH471099,AA568571,AF128406,AK000929,AK056966,AK093717,AK297875,AK303155,AL137729,BC000438,BC016440,BQ228233,CR590238,CR595670,CR595982,CR597828,NM_001038618,CR598397,CR601772,CR603660,CR603694,CR606462,CR611448,CR612983,CR619657,CR620704,DA695448,DB123829,EF601655,EF601656 NP_001033707,NP_114174,NP_036468,NP_001077077,EAW89794,EAW89795,EAW89798,AAD51446,BAA91432,BAG51834,BAG52753,BAG60200,BAG64258,AAH00438,AAH16440,ADQ32705,ACH58579,ACH58580,Q9UHQ1 Hs.256526,Hs.600304 DKFZp434G0420|FLJ10067|IOP2 iron-only hydrogenase-like protein 2|nuclear prelamin A recognition factor|prenyl-dependent prelamin A binding protein protein-coding 1314335 NARFL nuclear prelamin A recognition factor-like 16956324,18270200,14702039,12477932,11157797,9373149,8125298,19864422 64428 CH471112,Z98258,AK025641,AK025861,AK056467,AK094812,AK095675,AK126151,AK223005,AK293591,AK300087,AK301023,AK310875,AY129231,AE006464,BC129940,CR595518,NM_022493,BC030248 AAK61251,EAW85722,EAW85723,EAW85724,CAM26480,BAB15199,BAB15261,BAG51721,BAG53105,BAD96725,BAG57058,BAG61890,BAG62639,AAM98737,AAH30248,AAI29941,Q9H6Q4,NP_071938 Hs.513247 FLJ21988|HPRN|IOP1|LET1L|PRN LET1 like/JFP15|cytosolic Fe-S cluster assembly factor NARFL|iron-only hydrogenase-like protein 1|nuclear prelamin A recognition factor-like protein|protein related to Narf protein-coding 1343133 NARG1 NMDA receptor regulated 1 This gene encodes a protein of unknown function. However, similarity to proteins in yeast and other species suggests that this protein may be an N-acetyltransferase. [provided by RefSeq] 18029348,15496142,12145306,12140756,17081983,16518407,16518308,16279846,15815621,15489334,14702039,12477932,12145312,12145309,12087473,12019451,11687548,11478804,16507339,16638120,19660095,20154145,20562859 80155 NM_057175,AC097376,CH471056,AF327722,AJ314788,AK001595,AK023387,AK023402,AK304417,AK314626,AY039242,AY112670,BC032642,BC039818,BC093928,BC104806,CR614926 NP_476516,AAY40950,EAX05118,EAX05119,EAX05120,AAK15707,CAC43228,BAB14562,BAG65248,BAG37192,AAK68661,AAM48746,AAH32642,AAH39818,AAH93928,AAI04807,Q58F05,Q9BXJ9 Hs.726438 Ga19|NARG1|NATH|TBDN100 N-alpha-acetyltransferase 15, NatA auxiliary subunit|N-terminal acetyltransferase|NMDA receptor regulated 1|NMDA receptor-regulated protein 1|OTTHUMP00000174301|gastric cancer antigen Ga19|protein tubedown-1|transcriptional coactivator tubedown-100|tubedown-1 protein-coding 1606244 NARG1L NMDA receptor regulated 1-like 19480662,19660095,16344560,15761153,15489334,15057823,14702039,12477932,11483580,17207965 79612 NM_024561,NM_018527,NM_001110798,AL354696,AL590665,AL731858,CH471075,AK025707,AK291248,AL833341,BC017099,BC028112,BC032318,BC064592,BC101719,BC101721,BC143506,BE501152,BX640665,DB078940,AK097224 NP_078837,NP_060997,NP_001104268,CAI16619,CAQ06902,CAH71511,CAQ09847,CAH73370,EAX08654,EAX08655,EAX08656,EAX08657,EAX08658,EAX08659,EAX08660,BAB15222,BAF83937,AAH17099,AAH28112,AAH32318,AAH64592,AAI01720,AAI01722,CAE45801,Q6N069,Q8N352,Q96AH6,Q9H6N3,Q9P166,ADQ32355 Hs.512914 MGC40612|NARG1L|RP11-396A22.1 N-alpha-acetyltransferase 16, NatA auxiliary subunit|NARG1-like protein|NMDA receptor regulated 1-like|NMDA receptor-regulated 1-like protein protein-coding 1351476 NARG2 NMDA receptor regulated 2 737633 15606750,15146197,14702039,12975309,12477932,11297529 737633 79664 BC071685,BC107427,BC140894,BC151844,BX647873,CN342776,CR608429,CR612429,CR749852,NM_024611,NM_001018089,AC087385,CH471082,AF502591,AK021958,AK055752,AK095389,AK127892,AL832046,AL833122,AL833318,AY358546,BC013684,BC020918 AAH20918,AAH71685,AAI07428,AAI40895,CAH56197,CAH18700,Q659A1,NP_078887,NP_001018099,EAW77588,EAW77589,EAW77590,AAQ07460,BAB13948,BAG51567,BAG54594,CAH56220,CAH56202,AAQ88910,AAH13684 Hs.200943 BRCC1 NMDA receptor-regulated gene 2|NMDA receptor-regulated protein 2|breast cancer cell 1 protein-coding 1316312 NARS asparaginyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq] 1580863 9421509,15231747,16713569,15489334,12477932,9801298,9373149,9110174,8619474,8125298,6836455,20877624 4677 NM_004539,AC027097,AC100847,CH471096,AJ000334,AK129897,AK222835,AK293985,AK294364,AK294763,AK297777,BC001687,CR609633,D84273,DC302277,U79254 NP_004530,EAW63048,EAW63049,CAA04008,BAD96555,BAG57352,BAG57627,BAG57897,BAG60122,AAH01687,BAA34600,O43776 Hs.465224 ASNRS|NARS1 asparagine tRNA ligase 1, cytoplasmic|asparagine--tRNA ligase|asparaginyl-tRNA synthetase, cytoplasmic protein-coding 1605947 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative) 16344560,15779907,15489334,15342556,14702039,12477932,9373149,20877624,8125298,20379614 79731 NM_024678,NR_027479,AP003086,AP003110,CH471076,AK027094,AK056980,AK225444,AK315425,BC007800,BM023108,BP196275,BP199309,CR600469,DA509243 NP_078954,EAW75061,EAW75062,EAW75063,BAB15655,BAG51837,BAG37813,AAH07800,Q96I59,Q9H5H1 Hs.503389 FLJ23441|SLM5 asnRS|asparagine tRNA ligase 2, mitochondrial (putative)|asparagine--tRNA ligase|probable asparaginyl-tRNA synthetase, mitochondrial protein-coding 1346243 NARSP asparaginyl-tRNA synthetase pseudogene 319127 NG_002505,AL136418,AL139353 NARSP pseudo 1605124 NASP nuclear autoantigenic sperm protein (histone-binding) This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq] 19439102,20085707,20164540,20167597,17353931,18782834,17081983,16964243,16728391,16710414,16189514,15489334,15302935,15247327,14702039,12509435,12477932,11674998,11133655,10931132,10893414,9373149,8724350,8363049,8125298,3549279,2289011,2289010,1426632,16169070,15664198,8889548 4678 NM_002482,NM_152298,AL355480,CH471059,AF035191,AK056161,AK092829,AK222778,AK222816,AK291637,AK298893,AK299584,AK308001,AL512718,AL571577,BC003113,BC009933,BC010105,BC011580,BC053608,BT006757,CR601103,CR601591,CR605878,CR611251,CR614144,CR615803,CR619825,CR621701,M97856,CK300084,CX781565,DC361634,NM_001195193 NP_002473,NP_689511,CAI22460,CAI22461,CAI22462,CAI22463,CAI22464,CAI22465,EAX06964,EAX06965,EAX06966,EAX06967,EAX06968,EAX06969,AAD02006,BAD96498,BAD96536,BAF84326,BAG61005,BAG61519,AAH03113,AAH09933,AAH10105,AAH11580,AAH53608,AAP35403,AAA36027,O95138,P49321,Q53H03,Q5T624,Q5T626,Q5T627,Q6PJY7,Q9P1N1,ABM84201,ABM87605,NP_001182122 Hs.319334 DKFZp547F162|FLB7527|FLJ31599|FLJ35510|MGC19722|MGC20372|MGC2297|PRO1999 N1/N2-like|OTTHUMP00000009511|OTTHUMP00000009512|histone H1-binding protein|nuclear autoantigenic sperm protein protein-coding 1351106 NASPP1 nuclear autoantigenic sperm protein pseudogene 1 11674998 282694 NG_002431,AC022182 pseudo 1344668 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human geneome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1298615,2303760,1580863,2317168,2317170 1676262,16906563,16847422,16788383,16740387,16680433,16507510,16471212,16459354,16434594,16416399,16399351,16112301,16049806,16006997,16003747,15987714,15959877,15901993,15853926,15784508,15770721,15746160,15736440,15725609,15725081,15717312,15688397,15637738,15523664,15489334,15466980,15320760,15256524,15226672,15197537,15142281,15136237,15127906,15095308,15090724,15090717,15064998,15039438,14705222,14672957,14634838,14608357,14564055,14517345,12946272,12902152,12888564,12879167,12860276,12835615,10908296,1559981,19527514,19420222,19368118,19273964,19177501,19143007,19074885,19019335,18990750,18818748,18636124,18569602,18569593,18569577,18544563,18510611,18503826,18499698,18449058,18447907,18372103,18365755,18322880,18288399,18268115,18262724,18259988,18258609,18207572,18199719,18090909,18069763,18022202,18006927,17973251,17909564,17726690,17700360,17675654,17656365,17646057,17591675,17564319,17564315,17537267,17522066,17392017,17259654,17191090,17036310,17026750,16981843,16959263,16926176,12832400,12718576,12692115,12682333,12631536,12552951,12537647,12485520,12477932,12419761,12376500,12355549,12143122,12139735,12135032,12088198,12074508,12052143,12037388,11955677,11955676,11927838,11895912,11751443,11719088,11532862,11487538,11470992,11470991,11431340,11422615,11393533,11291049,11266080,11034589,10862520,10791558,10767335,10409428,9682272,9511183,9511182,9173883,9168895,8442668,8110178,7773298,7627961,2340091,1968463,19379125,19549810,19561488,19663877,19692168,19751749,19789190,19809881,19822571,19834256,19898993,19956635,20029944,20032816,20099048,20100460,20131310,20173083,20176657,20180013,20214802,20437058,20468060,17207965,20140262,20701904,20819778,20931357,21080951,19913121,20570911,20628086,20634891 1298615,2303760,2317168,2317170 9 DQ305877,DQ305878,DQ305879,DQ305880,DQ305881,DQ305882,DQ305883,DQ305884,DQ305885,DQ305886,DQ305887,DQ305888,DQ305889,DQ305890,DQ305891,DQ305892,DQ305893,DQ305894,DQ305895,DQ305896,DQ305897,DQ305898,DQ305899,DQ305900,DQ305901,DQ305902,DQ305903,DQ305904,DQ305905,DQ305906,DQ305907,DQ305908,DQ305909,DQ305910,DQ305911,DQ305912,DQ305913,DQ305914,DQ305915,DQ305916,DQ305917,DQ305918,DQ305919,DQ305920,DQ305921,DQ305922,DQ305923,DQ305924,DQ305925,DQ305926,DQ305927,DQ305928,DQ305929,DQ305930,DQ305931,DQ305932,DQ305933,DQ305934,DQ305935,DQ305936,DQ305937,DQ305939,DQ305940,DQ305941,DQ305942,DQ305943,DQ305944,DQ305945,DQ305946,DQ305947,DQ305948,DQ305949,DQ305950,DQ305951,DQ305952,DQ305953,DQ305954,DQ305955,DQ305956,DQ305957,DQ305958,DQ305959,DQ305960,DQ305961,DQ305962,DQ305963,DQ305964,DQ305965,DQ305966,DQ305967,DQ305968,DQ305969,DQ305970,DQ305971,DQ305972,DQ305973,DQ305974,DQ305975,U80835,X17059,AJ581135,AJ581136,AJ581137,AJ581138,AJ581139,AJ581140,AJ581141,DQ305938,AJ581142,AJ581155,HB919748,HB961362,HC977157,HD018772,NM_001160170,NM_001160171,NM_001160172,NM_001160173,NM_001160174,NM_001160175,NM_001160176,NM_001160179,AC124242,AF008204,AF032677,AF032678,AF067408,AF071552,AF082903,AF082904,AF308866,AJ278017,AJ307007,AY338489,AY376850,AY730684,AY800271,CH471080,DQ305816,DQ305817,DQ305818,DQ305819,DQ305820,NM_000662,DQ305846,DQ305847,DQ305848,DQ305849,DQ305850,DQ305851,DQ305852,DQ305853,DQ305854,DQ305855,DQ305856,DQ305857,DQ305858,DQ305859,DQ305860,DQ305861,DQ305862,DQ305863,DQ305864,DQ305865,DQ305866,DQ305867,DQ305868,DQ305869,DQ305870,DQ305871,DQ305872,DQ305873,DQ305874,DQ305875,DQ305876,DQ305821,DQ305822,DQ305823,DQ305824,DQ305825,DQ305826,DQ305827,DQ305828,DQ305829,DQ305830,DQ305831,DQ305832,DQ305833,DQ305834,DQ305835,DQ305836,DQ305837,DQ305838,DQ305839,DQ305840,DQ305841,DQ305842,DQ305843,DQ305844,DQ305845,AJ581143,AK290912,AV754344,BC013732,BC047666,BG941635,BQ024509,BU753390,BX647521,CD702544,CR596299,D90041,S78829,NG_012245 ABC26253,ABC26254,ABC26255,ABC26256,ABC26257,ABC26258,ABC26259,ABC26260,ABC26261,ABC26262,ABC26263,ABC26264,ABC26265,ABC26266,ABC26267,ABC26268,ABC26269,ABC26270,ABC26271,ABC26272,ABC26273,ABC26274,ABC26275,ABC26276,ABC26277,ABC26278,ABC26279,ABC26280,ABC26281,ABC26282,ABC26283,ABC26284,ABC26285,ABC26286,ABC26287,ABC26288,ABC26289,ABC26290,ABC26291,ABC26292,ABC26293,ABC26294,ABC26295,ABC26296,ABC26297,ABC26298,ABC26299,ABC26300,ABC26301,ABC26302,ABC26303,ABC26304,ABC26305,ABC26306,ABC26307,ABC26308,ABC26309,ABC26310,ABC26311,ABC26312,ABC26313,ABC26252,ABC26314,ABC26315,ABC26316,ABC26317,ABC26318,ABC26319,ABC26320,ABC26321,ABC26322,ABC26323,ABC26324,ABC26325,ABC26326,ABC26327,ABC26328,ABC26329,ABC26330,ABC26331,ABC26332,ABC26333,ABC26334,ABC26335,ABC26336,ABC26337,ABC26338,ABC26339,ABC26340,ABC26341,ABC26342,ABC26343,ABC26344,ABC26345,ABC26346,ABC26347,ABC26348,ABC26349,ABC26350,ABC26351,AAB62398,CAA34905,CAE46162,CAE46163,CAE46164,CAE46165,CAE46166,CAE46167,CAE46168,CBF94879,CBG15306,CBV08399,CBV28752,NP_000653,NP_001153642,NP_001153643,NP_001153644,NP_001153645,NP_001153646,NP_001153647,NP_001153648,NP_001153651,AAB84384,AAB86878,AAB86879,AAC24707,AAC24712,AAD13343,AAC32388,AAG23842,CAC01128,CAC38345,AAP88036,AAQ74989,AAX22230,AAV50002,EAW63787,ABC26192,ABC26193,ABC26194,ABC26195,ABC26222,ABC26223,ABC26224,ABC26225,ABC26226,ABC26227,ABC26228,ABC26229,ABC26230,ABC26231,ABC26232,ABC26233,ABC26234,ABC26235,ABC26236,ABC26237,ABC26238,ABC26239,ABC26240,ABC26241,ABC26242,ABC26243,ABC26244,ABC26245,ABC26246,ABC26247,ABC26248,ABC26249,ABC26250,ABC26251,ABC26221,ABC26196,ABC26197,ABC26198,ABC26199,ABC26200,ABC26201,ABC26202,ABC26203,ABC26204,ABC26205,ABC26206,ABC26207,ABC26208,ABC26209,ABC26210,ABC26211,ABC26212,ABC26213,ABC26214,ABC26215,ABC26216,ABC26217,ABC26218,ABC26219,ABC26220,CAE46169,CAE46170,BAF83601,AAH47666,BAA14095,P18440,Q09LL5,Q400I9,Q400J6,Q5C8V2,Q6U7I7,Q9HAQ5,ACE87651,ACE86961,ADQ33043 Hs.591847 AAC1|MNAT|NAT-1|NATI N-acetyltransferase type 1|arylamide acetylase 1|arylamine N-acetyltransferase 1|monomorphic arylamine N-acetyltransferase 2301749,2301750,2301751,2301752,2301753,2301754 PRSTS424_H,PRSTS421_H,PRSTS420_H,PRSTS425_H,PRSTS422_H,PRSTS423_H protein-coding 1605376 NAT10 N-acetyltransferase 10 (GCN5-related) 12477932,12429849,11230166,11076863,9373149,8125298,18954305,17353931,11214970,19303003,17631499,17180247,16381901,15489336,15489334,15146197,14702039,14592445,18677378 55226 NM_024662,NM_001144030,AC090469,CH471064,AB051496,AF489535,AK001636,AK022241,AK074430,AK225341,AK294044,AL136882,BC014440,BC020205,BC035558,BM988569,CN336530 NP_078938,NP_001137502,EAW68174,EAW68175,BAB21800,AAO49126,BAA91800,BAB13995,BAG57396,CAB66816,AAH20205,AAH35558,Q05CW7,Q9H0A0,CAL37974 Hs.577281 ALP|DKFZp434C116|FLJ10774|FLJ12179|FLJ23850|KIAA1709|NET43 N-acetyltransferase 10|N-acetyltransferase-like protein protein-coding 1602685 NAT11 N-acetyltransferase 11 (GCN5-related, putative) 16344560,15203218,14702039,12477932,19695338,17207965,19660095 79829 NM_024771,AP003780,CH471076,AK023910,AK299041,AK300451,AK303557,BC024160,BC041617,BC052298,CD632281,DA649381,BX647309 NP_079047,EAW74183,EAW74184,EAW74185,BAB14720,BAG61115,BAG62172,BAG64581,AAH41617,AAH52298,Q86UY6,CAI46006,ADQ32193 Hs.523753 FLJ13848|NAT11|PATT1 N-acetyltransferase 11 (GCN5-related, putative)|N-alpha-acetyltransferase 40, NatD catalytic subunit protein-coding 1346528 NAT12 N-acetyltransferase 12 (GCN5-related, putative) 14702039,12477932,19660095 122830 NM_001011713,AL355834,CH471061,AK024885,AK025749,AK092674,AK296372,AK304257,AK307348,BC048983,BC118589,BC122557,BX648700 NP_001011713,EAW80704,EAW80705,BAG52590,BAG59046,BAG65123,AAI18590,Q147X3,AAI22558 Hs.165465 C14orf35|FLJ35355|MAK3|MGC141884|MGC141885|Mak3p|NAT12 N-acetyltransferase 12|N-acetyltransferase 12 (GCN5-related, putative)|N-acetyltransferase MAK3 homolog|N-alpha-acetyltransferase 30, NatC catalytic subunit|chromosome 14 open reading frame 35|putative N-acetyltransferase protein-coding 1322131 NAT13 N-acetyltransferase 13 (GCN5-related) 737633,1580863 16507339,17502424,14702039,12477932,19398576,19660095,16341674 737633 80218 NM_025146,AC108693,CH471052,AK022540,AK023090,AK023256,AK296456,AK307184,AK315876,BC012731,CR603927,CR749314,BM831426,H16725,XR_108467,XR_112516,XR_113578 NP_079422,EAW79629,EAW79630,EAW79631,BAB14397,BAB14490,BAG59104,BAF98767,AAH12731,CAH18169,Q9GZZ1,ABM84090,ABM87460 Hs.596074 FLJ13194|MAK3|NAT13|NAT5|SAN|hNAT5|hSAN Mak3 homolog|N-acetyltransferase 13|N-acetyltransferase 13 (GCN5-related)|N-acetyltransferase 5|N-acetyltransferase san homolog|N-alpha-acetyltransferase 50, NatE catalytic subunit|OTTHUMP00000214741|OTTHUMP00000214742|mak3 homolog (s. cerevisiae)|separation anxiety protein-coding 1601749 NAT14 N-acetyltransferase 14 (GCN5-related, putative) 17207965,16341674,8889548,19807691,10873651,12477932,11779635 57106 BM785191,BU730663,NM_020378,AB055059,AC008735,CH471135,AB038651,AF086533,BC019079,CR590931,CR592269,CR611579,CR619062 ADQ33171,NP_065111,BAB85857,EAW72385,EAW72386,BAB03716,AAH19079,Q8WUY8 Hs.31854,Hs.728300 KLP1 K562 cell-derived leucine-zipper-like protein 1|K562 cells-derived leucine zipper-like protein 1|K562 cells-derived leucine-zipper-like protein 1|N-acetyltransferase 14 protein-coding 1605347 NAT15 N-acetyltransferase 15 (GCN5-related, putative) 16344560,14702039,12975309,12477932,9373149,8125298,17207965 79903 NM_001083601,NM_024845,NM_001083600,AC004224,AC025283,CH471112,AK021755,AK024216,AK092005,AK095819,AK130792,AK225178,AK297219,AK298566,AK302361,AK311524,AL833594,AY358543,BC011267,BG472911,BU501490,CR457324,CR614322,DA736660,DA786716 NP_001077070,NP_079121,NP_001077069,EAW85358,EAW85359,EAW85360,EAW85361,EAW85362,EAW85363,EAW85364,BAB14853,BAG52462,BAG59702,BAG60760,BAG63686,AAQ88907,AAH11267,CAG33605,Q9H7X0,ADQ31609 Hs.513296 FLJ11693|FLJ14154 N-acetyltransferase 15 protein-coding 732527 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq] 1298615,1581053,2303760,2303765,2311597,2311598,2303766,1580863,2317169,2317172 20683028,15588473,15565348,15558239,15548945,15546075,15499621,15489334,15450429,15355699,15339384,15316701,15312364,15256524,15226677,15225898,15162844,15142281,15136237,15127906,15122594,15111988,15110095,15090724,15090717,15069692,15069679,15061915,15032315,15005011,14994828,14747882,14705222,14656945,14648207,14646291,14634838,14618622,14582397,14564055,14528063,14504199,12888564,12884528,12883749,12879168,12877350,12860276,12835615,12818290,12814450,12773763,12768436,12760253,12747609,12747608,12724621,12718576,15609332,15602826,12708724,12692115,12682333,12680328,12668988,12663508,12654968,12631536,12630978,12622714,12611196,12584178,12580987,12552997,12552951,12546735,12544513,12492617,12484238,12477932,12474054,12469231,12465141,12430181,12419832,12402313,12397635,12376500,12360107,12355549,12165742,12163332,12163321,12139735,12135032,12110344,12088198,12082022,12074508,12067576,12037388,12018173,12016157,12015038,12012143,11967624,11936704,11934439,11927838,11915035,11911601,11895912,11872636,11865668,11858170,11846845,11815396,11791896,11774959,11773864,11773863,11751443,11751441,11751440,11751430,11719088,11702663,12235453,12222688,11675475,11595069,11520401,11487538,11482447,11470992,11470991,11431340,11422615,11393533,11372006,11323315,11291049,11285205,11266080,11245417,11219774,11219770,11214777,11201682,11186133,11181983,11099063,11034589,11008907,10862519,10791558,10625170,9202751,8466518,8460648,8110178,8102597,7920692,7915226,7902079,7773298,2924904,2734109,2068113,1996083,1968463,1676262,1441598,1381364,1306121,17656365,17653908,17611777,17610937,17569138,17564303,17537267,17535831,17525862,17522066,17513527,17512776,17510079,17509624,17503170,17502830,17479278,17477782,17449559,17442289,17441464,17434923,17377643,17335581,17291352,17290402,17290401,17287389,17270484,17264801,17259654,17224641,17205146,17194620,17191090,17160896,17078101,17063266,17026750,17025166,16985032,16981843,16926176,16924569,16906563,16896994,16886893,16847422,16827944,16782969,16770646,16740387,16721725,16697254,16629768,16621679,16615268,16614098,16571112,16570187,16567317,16556682,16533241,16531626,16507510,16504378,16488179,16481889,16471212,16459354,16434599,16434594,16424825,16416399,16399350,16397907,16380991,16369173,16327307,16251120,17661210,16246623,16224574,16182272,16155914,16151580,2340091,1559981,19643819,19608015,19589345,19588544,19575027,19560446,19558213,19549811,19549810,19546880,19527514,19492240,19443391,19443378,19433464,19390575,19380028,19368118,19358278,19351215,19350634,19343046,19339270,19336370,19336229,19334527,19307236,19303722,19287511,19273964,19264973,19247692,19177501,19169061,19164093,19161160,19118072,19116874,19107910,19074885,19031960,19019335,19012698,18992263,18990750,18986377,18936436,18840375,18838334,18818748,18798002,18773084,18768514,18713495,18706736,18704388,18703023,18680468,18680467,18642288,18636124,18630123,18610829,18601742,18600257,18569594,18569591,18569577,18544910,18544563,18510611,18499698,18449058,18423013,18421452,18398952,18372103,18365755,18349284,18330759,18304320,18287869,18268115,18264785,18262724,18258609,18207572,18199719,18187392,18167504,18160997,18159984,18090909,18075007,18061941,18033638,18027363,18026184,18023090,18022202,18019020,18006927,17996038,17973219,17950035,17936995,17880378,17726690,17684133,17675654,17665185,16150277,16141799,16112301,16097053,16083506,16049806,16015704,16006997,16003747,15987714,15987434,15931768,15914277,15914211,15905799,15901993,15890241,15855489,15853926,15829318,15808404,15808403,15784508,15774926,15770721,15746160,15743503,15736440,15725609,15725081,15717312,15700302,15691505,15679955,15671210,15663505,15637738,15618686,15617035,15612575,19379125,19452301,19663877,19692168,19692670,19751749,19761367,19766908,19789190,19809881,19822571,19823052,19826048,19834256,19891553,19898993,19909761,19922706,19947517,19956635,19996973,20004212,20029944,20032816,20040334,20047124,20063011,20088379,20099048,20136364,20173083,20175805,20180012,20180013,20185366,20197243,20214802,20297661,20304699,20364044,20373852,20375710,20391138,20392357,20403997,20437058,20437850,20453000,20459474,20461808,20501762,20875375,19913121,20568013,20570911,20602614,20628086,20634891,20637371,20641098,20679960,20682180,20739907,20801937,20647132,11044903,20701904,20847076,20884738,20923563,20935060,20941486,20972438,21037224,21047300,21072184,21080951 1298615,1581053,2303760,2303765,2311597,2311598,2303766,2317169,2317172 10 DQ305594,DQ305595,DQ305596,DQ305597,DQ305598,DQ305599,DQ305600,DQ305601,DQ305602,DQ305603,DQ305604,DQ305605,DQ305606,DQ305607,DQ305608,DQ305609,DQ305610,DQ305611,DQ305612,DQ305593,DQ305614,DQ305615,DQ305616,DQ305617,DQ305618,DQ305619,DQ305620,DQ305621,DQ305622,DQ305623,DQ305624,DQ305625,DQ305626,DQ305627,DQ305628,DQ305629,DQ305630,DQ305631,DQ305632,DQ305633,DQ305634,DQ305635,DQ305636,DQ305637,DQ305638,DQ305639,DQ305640,DQ305641,DQ305642,DQ305643,DQ305644,DQ305645,DQ305646,DQ305647,DQ305648,DQ305649,DQ305650,DQ305651,DQ305652,DQ305653,DQ305654,DQ305655,DQ422139,DQ305613,D10871,D10872,DQ305496,DQ305497,DQ305498,DQ305499,DQ305500,DQ305501,DQ305502,DQ305503,DQ305504,DQ305505,DQ305506,DQ305507,DQ305508,DQ305509,DQ305510,DQ305511,DQ305512,DQ305513,DQ305514,DQ305515,DQ305516,DQ305517,DQ305518,DQ305519,DQ305520,DQ305521,DQ305522,DQ305523,DQ305524,DQ305525,DQ305526,DQ305527,DQ305528,DQ305529,DQ305530,NG_012246,AC025062,AC120051,AF042740,AF055874,AF055875,AF320309,AF348074,AF348075,AY230251,AY230252,AY331807,CH471080,D10870,NM_000015,DQ305531,DQ305532,DQ305533,DQ305534,DQ305535,DQ305536,DQ305537,DQ305538,DQ305539,DQ305540,DQ305541,DQ305542,DQ305543,DQ305544,DQ305545,DQ305546,DQ305547,DQ305548,DQ305549,DQ305550,DQ305551,DQ305552,DQ305553,DQ305554,DQ305555,DQ305556,DQ305557,DQ305558,DQ305559,DQ305560,DQ305561,DQ305562,DQ305563,DQ305564,DQ305565,DQ305566,DQ305567,DQ305568,DQ305569,DQ305570,DQ305571,DQ305572,DQ305573,DQ305574,DQ305575,DQ305576,DQ305577,DQ305578,DQ305579,DQ305580,DQ305581,DQ305582,DQ305583,DQ305584,DQ305585,DQ305586,DQ305587,DQ305588,DQ305589,DQ305590,DQ305591,DQ305592,DQ422141,DQ422142,DQ422143,DQ472738,DQ472742,DQ472746,DQ472749,DQ472754,DQ472755,DQ472760,DQ472762,DQ472768,DQ472778,DQ472780,DQ472793,DQ472796,DQ472798,DQ472804,DQ472808,DQ472812,DQ472813,DQ422140,DQ472816,DQ472820,DQ472822,DQ472832,DQ472848,DQ472864,DQ472866,DQ472868,DQ472869,DQ472872,DQ472873,DQ472881,DQ472892,DQ472900,DQ472906,DQ472914,DQ472916,DQ472918,DQ472926,DQ472929,DQ472938,DQ472941,DQ472949,DQ472951,DQ472952,DQ472961,DQ472964,DQ472980,DQ472984,DQ473006,DQ472996,DQ473008,DQ473010,DQ473012,DQ473014,DQ473015,DQ473016,DQ473022,DQ473023,DQ473026,DQ473027,DQ473030,DQ473031,DQ473034,DQ473039,DQ473044,DQ473048,DQ473062,DQ473066,DQ473068,DQ473070,DQ473090,DQ473094,DQ473095,DQ473096,DQ473104,DQ473107,DQ473111,DQ473112,AJ581146,AJ581147,BC015878,BC067218,CR407631,D90040,D90042,DQ473114,DQ473115,DQ473118,DQ473130,DQ473132,DQ473134,DQ473136,DQ473139,DQ473143,DQ473144,DQ473146,DQ473149,DQ473152,DQ473153,DQ473154,DQ473155,DQ473159,DQ473163,DQ473174,DQ473187,DQ473208,DQ473212,DQ473213,DQ473216,DQ473217,DQ473219,DQ473222,DQ473224,DQ473113,DQ473230,DQ473232,DQ473233,DQ473235,DQ473236,DQ473238,DQ473240,DQ473254,DQ473256,DQ473258,DQ473260,DQ473261,DQ473262,DQ473264,DQ904040,DQ904041,DQ904042,DQ904043,DQ904044,DQ904046,DQ904048,DQ904050,DQ904053,DQ904054,DQ904056,DQ904058,DQ904060,DQ904062,DQ904064,DQ904066,DQ904068,DQ904071,DQ904072,DQ904074,DQ904076,DQ904078,DQ904080,DQ904082,DQ904084,DQ904086,DQ904088,DQ904096,DQ904097,DQ904098,DQ904099,DQ904100,DQ904102,DQ904104,DQ904106,DQ904108,DQ904110,DQ904112,DQ904114,DQ904116,DQ904123,DQ904125,DQ904127,DQ904129,DQ904131,DQ904138,DQ904139,DQ904140,DQ904141,DQ904142,DQ904143,DQ904144,DQ904145,DQ904146,DQ904147,DQ904148,DQ904149,DQ904150,DQ904151,DQ904152,DQ904153,DQ904154,DQ904155,DQ904156,DQ904157,DQ904158,DQ904159,DQ904160,DQ904164,DQ904166,DQ904168,DQ904169,DQ904170,DQ904171,DQ904172,DQ904173,DQ904174,DQ904175,DQ904176,DQ904177,DQ904178,DQ904179,DQ904180,DQ904181,DQ904182,DQ904183,DQ904184,DQ904185,DQ904186,DQ904187,DQ904198,DQ904220,M75163,M75164,U23052,U23434,U53473,X14672,AI460128,AJ581144,AJ581145 ABC26129,ABC26130,ABC26131,ABC26132,ABC26133,ABC26134,ABC26135,ABC26136,ABC26137,ABC26138,ABC26139,ABC26140,ABC26141,ABC26142,ABC26143,ABC26144,ABC26145,ABC26146,ABC26147,ABC26148,ABC26149,ABC26150,ABC26151,ABC26152,ABC26153,ABC26154,ABC26155,ABC26156,ABC26157,ABC26158,ABC26159,ABC26160,ABC26161,ABC26162,ABC26163,ABC26164,ABC26165,ABC26166,ABC26167,ABC26168,ABC26169,ABC26170,ABC26171,ABC26172,ABC26173,ABC26174,ABC26175,ABC26176,ABC26177,ABC26178,ABC26179,ABC26180,ABC26181,ABC26182,ABC26183,ABC26184,ABC26185,ABC26186,ABC26187,ABC26188,ABC26189,ABC26190,ABC26191,ABF57555,BAA01641,BAA01642,ABC26032,ABC26033,ABC26034,ABC26035,ABC26036,ABC26037,ABC26038,ABC26039,ABC26040,ABC26041,ABC26042,ABC26043,ABC26044,ABC26045,ABC26046,ABC26047,ABC26048,ABC26049,ABC26050,ABC26051,ABC26052,ABC26053,ABC26054,ABC26055,ABC26056,ABC26057,ABC26058,ABC26059,ABC26060,ABC26061,ABC26062,ABC26063,ABC26064,ABC26065,BAA01640,NP_000006,AAC03773,AAC14117,AAC14118,AAG34181,AAK51710,AAK51711,AAO73561,AAO73562,AAP81164,EAW63785,EAW63786,ABC26067,ABC26068,ABC26069,ABC26070,ABC26071,ABC26072,ABC26073,ABC26074,ABC26075,ABC26076,ABC26077,ABC26078,ABC26079,ABC26080,ABC26081,ABC26082,ABC26083,ABC26084,ABC26085,ABC26086,ABC26087,ABC26088,ABC26089,ABC26090,ABC26091,ABC26092,ABC26093,ABC26094,ABC26095,ABC26096,ABC26097,ABC26098,ABC26099,ABC26100,ABC26101,ABC26102,ABC26103,ABC26104,ABC26105,ABC26106,ABC26107,ABC26108,ABC26109,ABC26110,ABC26111,ABC26112,ABC26113,ABC26114,ABC26115,ABC26116,ABC26117,ABC26118,ABC26119,ABC26120,ABC26121,ABC26122,ABC26123,ABC26124,ABC26125,ABC26126,ABC26127,ABC26128,ABC26066,ABF51604,ABF57556,ABF57557,ABF57558,ABF01136,ABF01140,ABF01144,ABF01147,ABF01152,ABF01153,ABF01158,ABF01160,ABF01166,ABF01176,ABF01178,ABF01191,ABF01194,ABF01196,ABF01202,ABF01206,ABF01210,ABF01214,ABF01218,ABF01220,ABF01230,ABF01246,ABF01262,ABF01264,ABF01266,ABF01211,ABF01267,ABF01270,ABF01271,ABF01279,ABF01290,ABF01298,ABF01304,ABF01312,ABF01314,ABF01316,ABF01324,ABF01327,ABF01336,ABF01339,ABF01347,ABF01349,ABF01350,ABF01359,ABF01362,ABF01378,ABF01382,ABF01404,ABF01394,ABF01406,ABF01408,ABF01410,ABF01412,ABF01413,ABF01414,ABF01420,ABF01421,ABF01424,ABF01425,ABF01428,ABF01429,ABF01432,ABF01437,ABF01442,ABF01446,ABF01460,ABF01464,ABF01466,ABF01468,ABF01488,ABF01492,ABF01493,ABF01494,ABF01502,ABF01505,ABF01509,ABF01510,CAE46173,CAE46174,AAH15878,AAH67218,CAG28559,BAA14094,BAA14096,P11245,Q1HRY2,Q1HRY3,Q1HRY4,Q1HRY5,Q1HRY6,Q400I5,Q400I7,CAE46172,ABF01511,ABF01512,ABF01513,ABF01516,ABF01528,ABF01530,ABF01532,ABF01534,ABF01537,ABF01541,ABF01542,ABF01544,ABF01547,ABF01550,ABF01551,ABF01552,ABF01553,ABF01557,ABF01561,ABF01572,ABF01585,ABF01606,ABF01610,ABF01611,ABF01614,ABF01615,ABF01617,ABF01620,ABF01622,ABF01628,ABF01630,ABF01631,ABF01633,ABF01634,ABF01636,ABF01638,ABF01652,ABF01654,ABF01656,ABF01658,ABF01659,ABF01660,ABF01662,ABK34557,ABK34558,ABK34559,ABK34560,ABK34561,ABK34563,ABK34565,ABK34567,ABK34570,ABK34571,ABK34573,ABK34575,ABK34577,ABK34579,ABK34581,ABK34583,ABK34585,ABK34588,ABK34591,ABK34593,ABK34595,ABK34597,ABK34599,ABK34601,ABK34603,ABK34605,ABK34613,ABK34614,ABK34615,ABK34616,ABK34617,ABK34619,ABK34621,ABK34623,ABK34625,ABK34627,ABK34629,ABK34631,ABK34589,ABK34633,ABK34640,ABK34642,ABK34644,ABK34646,ABK34648,ABK34655,ABK34656,ABK34657,ABK34658,ABK34659,ABK34660,ABK34661,ABK34662,ABK34663,ABK34664,ABK34665,ABK34666,ABK34667,ABK34668,ABK34669,ABK34670,ABK34671,ABK34672,ABK34673,ABK34674,ABK34675,ABK34676,ABK34677,ABK34681,ABK34683,ABK34685,ABK34686,ABK34687,ABK34688,ABK34689,ABK34690,ABK34691,ABK34692,ABK34693,ABK34694,ABK34695,ABK34696,ABK34697,ABK34698,ABK34699,ABK34701,ABK34702,ABK34703,ABK34704,ABK34715,ABK34737,AAA59906,AAA59905,AAA64584,AAA64585,AAA98976,CAA32802,CAE46171,ABK34700 Hs.2 AAC2|PNAT N-acetyltransferase type 2|NAT-2|arylamide acetylase 2|arylamine N-acetyltransferase 2|n-acetyltransferase-2|polymorphic arylamine N-acetyltransferase 2301749,2301750,2301751,2301752,2301753,2301754 PRSTS424_H,PRSTS421_H,PRSTS420_H,PRSTS425_H,PRSTS422_H,PRSTS423_H protein-coding 1317063 NAT5 N-acetyltransferase 5 (GCN5-related, putative) NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM] 11256614,18570629,16823041,16507339,16381901,15489336,15489334,12888564,12783868,12477932,11780052,11230166,11076863,10748148,20639454,19660095,19744929,20145209 51126 NM_016100,NM_181528,NM_181527,AL035454,AL049538,CH471133,AF085355,AK311819,AL136641,BC005181,BC008446,BX338359,CR597980,CR607693,CR609257,CR623548 NP_057184,NP_852669,NP_852668,CAI42118,CAI19341,EAX10213,EAX10214,EAX10215,AAD40190,BAG34761,CAB66576,AAH05181,AAH08446,P61599,CAL38347,CAL38437,ABM83445,ABM86628,ABM86657 Hs.368783 NAT3|NAT5|dJ1002M8.1 N-acetyltransferase 3 homolog|N-acetyltransferase 5|N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)|N-acetyltransferase 5 (GCN5-related, putative)|N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)|N-alpha-acetyltransferase 20, NatB catalytic subunit|N-terminal acetyltransferase B complex catalytic subunit NAA20|N-terminal acetyltransferase B complex catalytic subunit NAT5|N-terminal acetyltransferase complex ARD1 subunit|dJ1002M8.1 (N-terminal acetyltransferase complex ard1 subunit)|dJ1175I6.2 (N-terminal acetyltransferase complex ard1 subunit)|n-acetyltransferase 5 (ard1 homolog, s. cerevisiae)|natB complex subunit NAT5 protein-coding 1350941 NAT6 N-acetyltransferase 6 (GCN5-related) 1332585,1580863 16641997,15489334,15036368,12477932,11929860,11085536,10644992,16169070,19789190,15885884 1332585 24142 NM_012191,CH471055,U73167,AF040705,AF040706,AK313803,BC004483,BC035689,CR457113,CR613438,BC051750,CR594453,CR595994,CR614993,BM147777,BM989194,NM_001200016,NM_001200018 NP_036323,EAW65077,EAW65078,EAW65079,EAW65080,EAW65081,EAW65082,AAC02732,AAC70912,AAC70913,BAG36539,AAH04483,CAG33394,Q6IAP1,Q93015,ACE87757,ACE87077,NP_001186945,NP_001186947 Hs.129910 FUS-2|FUS2 N-acetyltransferase 6|protein fus-2|protein fusion-2|putative tumor suppressor protein-coding 1350744 NAT8 N-acetyltransferase 8 (GCN5-related, putative) This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq] 1580863 20383146,11397015,9852678,19011241,18402670,15761153,12477932,1139715,20392701,20385109,20383145 9027 NM_003960,AC092653,CH471053,AB013094,AB019551,AF187813,BC012626,BG426653,CR407610 NP_003951,EAW99727,BAA33679,BAA34386,AAF22303,AAH12626,CAG28538,Q9UHE5 Hs.14637 CML1|GLA|Hcml1|TSC501|TSC510 N-acetyltransferase 8 (camello like)|camello-like protein 1|kidney- and liver-specific gene product|probable N-acetyltransferase 8 protein-coding 1605078 NAT8B N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq] 11397015,19011241,16395595,12477932,20383145,20383146 51471 NM_016347,AC092653,CH471053,AF185571,BC069564,BC121101,BC121102,BX105650 NP_057431,EAW99724,AAF22299,Q9UHF3,AAI60071 Hs.458287 CML2|Hcml2|MGC97061|NAT8BP N-acetyltransferase 8B (gene/pseudogene)|N-acetyltransferase Camello 2|camello-like protein 2|probable N-acetyltransferase 8B protein-coding 1602409 NAT8L N-acetyltransferase 8-like (GCN5-related, putative) 20643647,19807691,14702039,12477932,11397015,20385109 339983 BC010045,NM_178557,AL132868,CH471131,AK094797,BC093906,BC093908,BC103748,AL137326,NG_027961,XM_003119921,Z69638 NP_848652,EAW82541,BAC04426,AAH93906,AAH93908,AAI03749,Q8N9F0,CAM15218,XP_003119969 Hs.318529 CML3|DKFZp434B0650|DKFZp566H184|FLJ37478|Hcml3|MGC117272|NAAGS|NAT8-LIKE N-acetylaspartyl-glutamate synthetase|N-acetyltransferase 8-like protein|camello-like protein 3 protein-coding 1606805 NAT9 N-acetyltransferase 9 (GCN5-related, putative) 11256614,19139211,16381901,16169070,15761153,15489336,14608357,12477932,11230166,11076863,9373149,8125298,16944568,20031577 26151 NM_015654,AC016888,CH471099,AK123115,AK225602,AK308569,AK312958,AL050269,AY632082,BC004195,BC004225,CR590647,CR598253,CR606498,CR614580,CR617253,CR619487,CR622351 NP_056469,EAW89193,EAW89194,EAW89195,EAW89196,EAW89197,BAG35797,CAB43370,AAU25819,AAH04195,AAH04225,Q9BTE0,CAL37809,CAL38704,ACE87596,ACE86909 Hs.144058 DKFZp564C103|EBSP|EBSP, hNATL N-acetyltransferase 9|embryo brain specific protein|embryo brain-specific protein protein-coding 1315590 NAV1 neuron navigator 1 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known. [provided by RefSeq] 1580863 20936779,16344560,15158073,14702039,12477932,12421765,12079279,12062803,10574462,10574461,18029348 89796 AC092800,AJ251973,AL512788,AL645504,AX034571,CH471067,AB032977,AB033039,AF086348,AJ488101,AK022622,AK022631,AK024265,AK056158,NM_020443,AK091567,AL133664,AY043013,BC007523,BC069250,BC117683,BX648460,CR936811,DA053418,DA166081,BP395555,DA431858,NM_001167738 NP_065176,CAB66088,CAH71925,CAI17010,CAI17011,CAI17012,CAI17013,CAI17014,CAC10130,EAW91372,EAW91373,EAW91374,BAA86465,BAA86527,CAD32470,BAB14136,BAB14142,BAB14865,BAG51635,CAH56487,AAL05591,AAH07523,AAI17684,Q659D6,Q8NEY1,AAI56465,AAI72534,NP_001161210 Hs.585374 DKFZp781D0314|FLJ12560|FLJ14203|KIAA1151|MGC14961|POMFIL3|STEERIN1|UNC53H1|steerin-1 OTTHUMP00000033915|OTTHUMP00000033917|neuron navigator 1|neuron navigator-1|pore membrane and/or filament interacting like protein 3|pore membrane and/or filament-interacting-like protein 3|unc-53 homolog 1 protein-coding 1320655 NAV2 neuron navigator 2 The vitamin A metabolite, all-trans retinoic acid (atRA), plays an important role in neuronal development, including neurite outgrowth. RAINB1 is an atRA-responsive gene.[supplied by OMIM] 1580863 18029348,18937294,20379614,17081983,16964243,16189514,15489334,15158073,15124103,15031288,14702039,12477932,12214280,12168954,12079279,12062803,11904404,10737800,10718198,8889549,20936779 89797 AC023950,AC113193,AK298346,NM_182964,NM_145117,NM_001111018,NM_001111019,AC009549,AC015684,AC090662,AC111163,CH471064,AA451836,AB037840,AB063115,AB063116,AF466143,AF466144,AJ488102,AJ488202,AJ488203,AJ488204,AJ488205,AJ488206,AJ488207,AJ488208,AK001495,AK001892,AK074287,AK096037,AK290458,AK307574,BC016054,BC107690,BC150290,BE818973,BI831180,BX459843,BX485661,R23148 BAH12762,NP_892009,NP_660093,NP_001104488,NP_001104489,EAW68343,EAW68344,EAW68345,EAW68346,EAW68347,EAW68348,BAA92657,BAC00853,BAC00854,AAL96479,AAL96480,CAD32471,CAD32555,CAD32556,CAD32557,CAD32558,CAD32559,CAD32560,CAD32561,BAA91723,BAA91965,BAB85038,BAF83147,AAH16054,AAI50291,Q8IVK9,Q8IVL1 Hs.64341,Hs.502116,Hs.639427,Hs.639428 FLJ10633|FLJ11030|FLJ23707|FLJ77876|HELAD1|KIAA1419|POMFIL2|RAINB1|STEERIN2|UNC53H2 helicase APC down-regulated 1|helicase, APC down-regulated 1|neuron navigator 2|pore membrane and/or filament interacting like protein 2|pore membrane and/or filament-interacting-like protein 2|retinoic acid inducible gene in neuroblastoma 1|retinoic acid inducible in neuroblastoma 1|steerin-2|unc-53 homolog 2 protein-coding 1314915 NAV3 neuron navigator 3 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq] 1580863 19913121,20589678,20628086,18509363,18337827,15158073,14702039,12477932,12079279,12062803,10231032,8889548,20936779,19626031,20379614,20707712 89795 AC073571,AC073608,AC078822,AC090020,AC138331,CH471054,AB023155,AF397731,AJ488201,AK022070,AK294988,AK298525,BC017667,NM_014903,BM684673 NP_055718,EAW97341,EAW97342,BAA76782,AAM73757,CAD32554,BAG58055,BAG60728,AAH17667,Q6PJB7,Q8IVL0,AAI72529,AAI56504 Hs.655301 KIAA0938|POMFIL1|STEERIN3|unc53H3 neuron navigator 3|pore membrane and/or filament interacting like protein 1|pore membrane and/or filament-interacting-like protein 1|steerin 3|steerin-3|unc-53 homolog 3 protein-coding 1604810 NBAS neuroblastoma amplified sequence 17028906,14702039,12706883,12477932,11954550,20577004,11329013,9926938,16169070,19369418,19407829,20379614,20585324 51594 AC007738,AC008278,AC008282,AC074184,CH471053,AF056195,AF388385,AK057915,AK097726,AL050281,NM_015909,AL832774,AL833270,BC040345,BC051792,BC108693,BC131735,BG195182,BQ878688,CR605675,HM243531,HM243532 NP_056993,AAY24347,AAX88878,EAX00900,EAX00901,EAX00902,EAX00903,AAD18133,AAM93544,CAB43382,AAH51792,AAI08694,AAI31736,A2RRP1,Q4ZG05 Hs.467759 DKFZp586G1219|FLJ40407|NAG NAG/BC035112 fusion|NAG/FAM49A fusion|neuroblastoma-amplified gene protein|neuroblastoma-amplified protein|neuroblastoma-amplified sequence protein-coding 1323716 NBEA neurobeachin This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. Alternatively spliced transcript variants may exist, but their full-length nature has not been determined. [provided by RefSeq] 1580863 17474147,19135901,19086053,14702039,12746398,12234919,12160729,11102458,10997877,10501977,16169070,19913121,20628086,15188402,16344560,20041166,20200978 26960 NM_015678,AL138690,AL139083,AL159160,AL161718,AL161902,AL356430,AL357083,AL390071,CH471075,AB046764,AF072371,AF467288,AK001059,AK091469,AK122888,AK127791,AK294737,AK297773,AK315939,AL137748,BX640760,CR601363,CR615674,DA248291 NP_056493,CAH72296,CAH71882,CAH71883,CAH72182,CAI16334,CAH74071,CAI17182,CAI17183,EAX08541,EAX08542,EAX08543,EAX08544,EAX08545,BAB13370,AAD41633,AAM53531,BAA91485,BAG52368,BAG53781,BAG54570,BAH11865,BAH12663,BAH14310,CAB70903,CAE45866,Q6N008,Q8NFP9,AAI72597,CAI15737 Hs.491172 BCL8B|LYST2 OTTHUMP00000018239|lysosomal trafficking regulator 2|lysosomal-trafficking regulator 2|neurobeachin protein-coding 1349211 NBEAL1 neurobeachin-like 1 16344560,15193433,14702039,12477932,11586298,10737800 65065 NM_001114132,AC010900,AC011737,AB053318,AB053319,AK127772,AK128636,AK130065,AW028696,AW809287,AY172970,BC132950,BC137214,BX647133,CR597362,CV310362,DA701100,DR731376,DV080127,DV080228,DV080354,DV080456,AC023271,BC144532,BC144533 NP_001107604,BAB69026,BAB69027,BAC87125,BAC87543,BAC85289,AAO45288,AAI32951,AAI37215,Q6ZS30,AAI66673 Hs.604686,Hs.648846 A530083I02Rik|ALS2CR16|ALS2CR17|FLJ22838|FLJ26555|MGC164581|MGC168834 OTTHUMP00000205117|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein|beach|neurobeachin-like protein 1 protein-coding 1604049 NBEAL2 neurobeachin-like 2 19367581,14702039,12975309,12477932,9628581 23218 NM_015175,AC094020,AB011112,AK074036,AK092871,AK131104,AK293387,AK301269,AY358455,BC029944,BC035894,BC060874,CR988681 NP_055990,BAA25466,BAB84862,BAC03994,BAC85154,BAG56897,BAG62832,AAQ88820,AAH60874,Q6ZNJ1,Q8TET5 Hs.437043 KIAA0540 OTTHUMP00000209977|neurobeachin-like protein 2 protein-coding 736912 NBL1 neuroblastoma, suppression of tumorigenicity 1 This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 19995712,16344560,15528323,15489334,12477932,12150978,11594460,11134349,10208746,9831647,9660951,9516839,9324305,9303440,8609050,8084583,7777541,7633401,10390159 4681 NM_182744,NM_005380,AL031727,CH471134,D89013,AK292101,AK300872,AK309257,AK313265,AL703187,AY049783,BC012037,BQ671197,BT019423,CR598310,D28124,DA921297 NP_877421,NP_005371,CAI19019,CAM45831,CAM45832,CAM45833,CAM45834,CAM45835,CAM45836,CAM45837,EAW94894,EAW94895,BAA92265,BAF84790,BAG62517,BAG36074,AAL15440,AAH12037,AAV38230,BAA05671,P41271 Hs.654502 D1S1733E|DAN|DAND1|MGC8972|NB|NO3 DAN domain family member 1|OTTHUMP00000195027|OTTHUMP00000195028|OTTHUMP00000195029|OTTHUMP00000195030|OTTHUMP00000195032|differential screening-selected gene aberrant in neuroblastoma|neuroblastoma candidate region, suppression of tumorigenicity 1|neuroblastoma suppressor of tumorigenicity 1 protein-coding 1348611 NBN nibrin Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq] 2298994,2298992,2298995,2298993,2298991,1580863,1600219 20600238,19714462,20224574,17957789,17932350,17899368,17898048,17894553,17765870,17715134,17700070,17695489,17694070,17693401,17685459,17612497,17557904,17544403,17537595,17534377,17526493,17496786,17486112,17485521,17476281,17442057,17431132,17384674,17333333,17219051,17169801,17078101,17034901,17030982,16998789,16972754,16964243,16936774,16905549,16877808,16788144,16770759,16752129,16728435,16714331,16702373,16638864,16478990,16474176,16467875,16428493,16415040,16392640,16343742,16309973,16214912,16195237,16188882,16163361,16152606,16036916,16033915,16002061,15980987,15965469,15937485,15921821,15914210,15790808,15758953,15746160,15734743,15733840,15653682,15616588,15578693,15493328,15489334,15338273,15302935,15279809,15279770,15234984,15201865,15185344,15180989,15064416,15048089,15026416,15024084,15010895,14988723,14973119,14745549,14702039,14688016,14684699,12972939,12955071,12917199,12883362,12861053,12845677,12833396,12833146,12750284,12679336,12660252,12637527,12607005,12588868,12508248,12505263,12485469,12477932,12447395,9590180,9590181,11486038,12529385,10766245,11438675,11448772,18029348,10888888,12447371,12419185,19523210,19393249,19393077,19383352,19338747,19338682,19244322,19244116,19197236,19151620,19126654,19124506,19116388,19074885,19064572,19064565,18950845,18949738,18940477,18835245,18830935,18830263,18829552,18793719,18768505,18763866,18723444,18701435,18691878,18678890,18676680,18664457,18644472,18638378,18632984,18627000,18596698,18593981,18583988,18582474,18582154,18579371,18575580,18568448,18562516,18469862,18411307,18394656,18328813,18280732,18270679,18270339,18234271,18073374,18056440,18049891,18040525,18025084,18003706,17981542,12353271,12124628,12082606,12036913,12023982,11877377,11809878,11325820,11238951,11110662,10913111,10839545,10839544,10802669,10783165,10426999,9933573,9705271,9620777,9373149,9199571,9042920,8125298,18458108,11504724,14519663,12792649,10608806,8870681,8170997,15916964,12433983,9258347,20682289,11252893,15456891,16051665,19170196,19270065,19536092,19573080,19584272,19586055,19597347,19597488,19609304,19625176,19629396,19635536,19661089,19683501,19690177,19692168,19706757,19772428,19773279,19789190,19804755,19804756,19862546,19904603,19908051,19910469,19917125,19950226,20003485,20004634,20010693,20150366,20232390,20379614,20453000,20453309,20478923,20496165,20522537,20471956,16872911,16932743,20143155,20729302,20731661,20734064,20813000,20921278,21077165,20175780,20571895,20610542,20634891,20644561,20720310 2298994,2298992,2298995,2298993,2298991,1600219 4683 NM_002485,NG_008860,AB013139,AF069291,AY566246,CH471060,CQ978987,AF051334,AF058696,AK001017,AK223256,AK289848,AK312410,BC005293,BC016762,BC040519,BC071590,BC108650,BC136802,BC136803,BC144413,BC146797,BX640816 NP_002476,BAA28616,AAC62232,AAS59158,EAW91660,EAW91661,CAI45369,AAC39732,AAC39752,BAD96976,BAF82537,BAG35323,AAH16762,AAI08651,AAI36803,AAI36804,AAI46798,CAH56160,O60934,AAI43066,AAI43067 Hs.492208 AT-V1|AT-V2|ATV|FLJ10155|MGC87362|NBS|NBS1|P95 Nijmegen breakage syndrome 1 (nibrin)|OTTHUMP00000204088|cell cycle regulatory protein p95|nibrin|nijmegen breakage syndrome 1 (nibrin)|nijmegen breakage syndrome protein 1|p95 protein of the MRE11/RAD50 complex protein-coding 1604341 NBPF1 neuroblastoma breakpoint family, member 1 The NBPF gene family, of which NBPF1 is the founding member, consists of 22 genes and pseudogenes that arose by gene duplication. NBPF genes contain numerous low-copy repetitive elements and show high intergenic and intragenic sequence identity in coding and noncoding regions (Vandepoele et al., 2005 [PubMed 16079250]).[supplied by OMIM] 16079250,14702039,12477932,11214970,7700633,20096688 55672 AF379607,AL137798,AL355149,AY894576,AY894577,AY894578,AY894579,AY894580,AY894581,AY894585,AB051480,AF379611,AF379612,AF379613,AF379614,AF379615,AF379617,AF379618,AF379621,AF379627,NM_017940,AF379619,AF379620,AF379623,AF379628,AK055895,AK123260,AY894575,BC010124,BC013805,BC034418,BC066930,BC093404,BC094705,BC110431 NP_060410,AAO15407,AAX85115,AAX85116,AAX85117,AAX85118,AAX85119,AAX85120,AAX85123,BAB21784,AAO15387,AAO15395,Q4VC10,Q8IU90,Q8IX79,Q8IX80,Q8IX83,Q8IX86,Q8IX87,AAO15389,AAO15390,AAO15392,AAO15396,AAI69316,AAI69317,AAI69318,AAX85114,AAH34418,AAH94705,Q3BBU1,Q3BBU4,Q3BBU5,Q3BBU8,Q3BBV0 Hs.467587,Hs.515947,Hs.523572,Hs.726076 AB13|AB14|AB23|AD2|FLJ20719|KIAA1693|NBG|NBPF hypothetical protein LOC55672 protein-coding 1603454 NBPF10 neuroblastoma breakpoint family, member 10 18187866,16710414,16079250,15489334,14702039,12477932 100132406 NM_001039703,AL592307,AF379624,AF379632,AF379634,AF379635,AF380580,AF380582,AF419616,AK000726,AK125792,AL050141,AY894565,BC021111,BC063799,BX538005,AF379616 NP_001034792,CAH73995,CAH73996,AAO15393,AAO15400,AAO15403,AAO15405,AAO15442,BAA91343,AAX85104,AAH63799,Q3BBW0,Q5VTG7,Q5VTG8,Q6P3W6,Q8IX62,Q8IX70,Q8IX72,Q8IX75,Q8IX82,Q8IX85,AAO15388,AAI48332,CAH73997,Q5VTG6 Hs.515947 AB6|AG1|DKFZp564A057|DKFZp586O031|DKFZp686C1532|FLJ20719|FLJ35032|FLJ43804|FLJ55807|MGC182975 neuroblastoma breakpoint family member 10 protein-coding 2302123 NBPF11 neuroblastoma breakpoint family, member 11 16079250,12477932 728912 NM_001101663,BX842679,AK302413,AL832622,BC136292 NP_001095133,CAI23637,BAH13700,CAD89962,AAI36293,Q5RGN0,Q86T75 Hs.515947,Hs.676059 DKFZp451B1418 protein-coding 1603453 NBPF12 neuroblastoma breakpoint family, member 12 16079250,9110174,8619474 440675 XM_001715810,AL139152,AF131738,AL040349 XP_001715862,CAI22485,AAD20027,Q5TAG4 Hs.666981,Hs.515947 neuroblastoma breakpoint family, member 12 protein-coding 1606849 NBPF13P neuroblastoma breakpoint family, member 13 (pseudogene) 16079250 644861 NG_005554,AL596177 pseudo 1604034 NBPF14 neuroblastoma breakpoint family, member 14 9110174,16079250,14702039,8619474 25832 NM_015383,AL022240,AY894582,AY894583,AF161426,AF379622,AF379626,AF379631,AK095459,AK294944,AL117237 NP_056198,CAI20179,CAI20180,CAI20181,CAI20182,CAI20183,CAI20184,CAI20185,CAI20186,AAX85121,AAX85122,AAF28986,AAO15391,AAO15394,AAO15399,BAG58020,CAB55305,Q3BBU2,Q5TI25,Q8IX81,Q8IX84,Q9P074 Hs.467587,Hs.534675 DJ328E19.C1.1|FLJ35032|FLJ60520|NBPF|RP3-328E19.1 AE5|OTTHUMP00000015812|hypothetical protein LOC25832 protein-coding 1603863 NBPF15 neuroblastoma breakpoint family, member 15 16079250,14702039,12477932,16344560 284565 NM_173638,AL954711,AF379630,AK097180,AK290142,AK290302,AY894566,BC023087,CR599564,CR608846,CR610345,AF420437,AK299360,BQ890458,DB300232,NM_001170755 NP_775909,CAM22821,AAO15398,BAF82831,BAF82991,AAX85105,AAH23087,Q8IX61,Q8N660,AAO15443,BAG61355,NP_001164226 Hs.523572,Hs.656782 AB14|FLJ59046|FLJ78393|MGC8902 hypothetical protein LOC284565 protein-coding 1602233 NBPF16 neuroblastoma breakpoint family, member 16 16710414,16344560,16079250,15489335 728936 NM_001102663,AL592492,AF380581,AI675925,CV024999,DA932476,DB185273,DC372755,ES313907 NP_001096133,CAI16654,AAO15404,Q5SXJ2,Q8IX71 Hs.445080,Hs.523572,Hs.534675,Hs.726076 AG3 OTTHUMP00000038386|hypothetical protein LOC728936 protein-coding 1606367 NBPF17P neuroblastoma breakpoint family, member 17 (pseudogene) 16079250 401967 NG_005550,AL732363 pseudo 1603448 NBPF18P neuroblastoma breakpoint family, member 18 (pseudogene) 16079250 441908 NG_005552,AL450992 pseudo 1602376 NBPF19 neuroblastoma breakpoint family, member 19 16079250 641589 AC026900 neuroblastoma breakpoint family, member 19 protein-coding 1605785 NBPF20 neuroblastoma breakpoint family, member 20 16079250,15252450,14702039,12477932 400818 NM_001037675,AL138796,AL592284,BX546486,AF419618,AF419619,AK095030,AK294414,AY894574,BC027348,BC071995,BC094841,DQ786323 NP_001032764,CAI16968,CAI16969,CAM23768,BAG57664,AAX85113,Q3BBV1,AAI67783 Hs.515947,Hs.534675 FLJ37711|FLJ60244|KIAA1245|NBPF10 protein-coding 1606426 NBPF21P neuroblastoma breakpoint family, member 21 (pseudogene) 16079250 205655 NG_005549,AC098648 pseudo 1626600 NBPF22P neuroblastoma breakpoint family, member 22 (pseudogene) 16079250,12477932,11181995 285622 NR_003719,AC020923,CH879424,AK308274,BC050328 EAW50392 Hs.449272 MGC48637 pseudo 2311153 NBPF23 neuroblastoma breakpoint family, member 23 19536264 100302292 GQ131873 Hs.575982 neuroblastoma breakpoint family, member 23 protein-coding 1606651 NBPF2P neuroblastoma breakpoint family, member 2 (pseudogene) 16079250 343381 NG_005533,AL592309 pseudo 1604276 NBPF3 neuroblastoma breakpoint family, member 3 18940312,17391723,16381901,16189514,16079250,15489336,15334068,12477932,11230166,11076863,9587054,14702039,19303062,20558539 84224 NM_032264,AL592309,CH471134,AF379629,AK095602,AK098438,AK292580,AK299840,AK314597,AL136890,AL834330,AY598326,AY894564,BC024011,BI909818 NP_115640,CAH72075,CAH72077,CAH72078,EAW94971,EAW94972,EAW94973,AAO15397,BAG53092,BAF85269,BAG61704,CAB66824,CAD38998,AAT06737,AAX85103,AAH24011,Q9H094,CAL37902,AAI46689 Hs.325422 AE2|DKFZp434D177|RP11-293F5.5 OTTHUMP00000002964|OTTHUMP00000002966|neuroblastoma breakpoint family, member 3 protein-coding 2302827 NBPF4 neuroblastoma breakpoint family, member 4 16079250,14702039,12477932 148545 NM_001143989,AL359258,CH471156,AK057395,AK302318,AK316438,BC125162,DC402863 NP_001137461,CAI14514,EAW51256,BAB71469,BAG63656,BAH14809,AAI25163,Q5T483 Hs.511849 FLJ32833 OTTHUMP00000013058|neuroblastoma breakpoint family, member 4 protein-coding 1603519 NBPF5 neuroblastoma breakpoint family, member 5 16079250,12477932 284610 BX323851,BX649306,BC043522,XM_001714472 XP_001714524,AAH43522,Q86XG9 DKFZp434D177-like|RP11-242D10.1 neuroblastoma breakpoint family, member 5 protein-coding 1602598 NBPF6 neuroblastoma breakpoint family, member 6 16079250,12477932 653149 NM_001143987,NM_001143988,AL390038,AL392088,BX323851,BC125161 NP_001137459,NP_001137460,CAH70399,CAI23469,AAI25162,Q5VWK0 Hs.712226 OTTHUMP00000178983|neuroblastoma breakpoint family, member 6 protein-coding 1602958 NBPF7 neuroblastoma breakpoint family, member 7 16079250 343505 NM_001047980,AL359752 NP_001041445,P0C2Y1,AAI56111,AAI56967 Hs.647677 hypothetical protein LOC343505 protein-coding 1605145 NBPF8 neuroblastoma breakpoint family, member 8 16079250,12477932 728841 XM_001726946,XM_002346226,AL049742,AL356004,BX511041,AY894562,AY894563,AY894567,AY894568,AY894569,AY894570,AY894571,AY894572,AY894573,BC071723,BC086308,AY894561 XP_001726998,XP_002346267,CAM28240,CAM28241,AAX85101,AAX85102,AAX85106,AAX85107,AAX85108,AAX85109,AAX85110,AAX85111,AAX85112,AAH86308,A6NDD8,Q3BBV2,Q3BBV3,Q3BBV4,Q3BBV5,Q3BBV6,Q3BBV7,Q3BBV8,Q3BBW2,Q3BBW3,Q5U227,AAX85100 Hs.534675,Hs.571820,Hs.655246 MGC99641|NBPF11 CG10522-PA-like|OTTHUMP00000095769|hypothetical protein LOC728841 protein-coding 1601680 NBPF9 neuroblastoma breakpoint family, member 9 16079250,14702039,12477932,10574462 440670 XM_001717398,AC026900,AL359176 XP_001717450 Hs.515947 AE01|KIAA1245|NBPF9 hypothetical LOC440670 protein-coding 1322877 NBR1 neighbor of BRCA1 gene 1 The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled coil motif, which is present in many genes with transformation potential, but the function of this protein is unknown. This gene is located on a region of chromosome 17q21.1 that is in close proximity to tumor suppressor gene BRCA1. Three alternatively spliced variants encoding the same protein have been identified for this gene. [provided by RefSeq] 19427866,16189514,15802564,15489334,14702039,12813044,12477932,12107412,11856312,11179671,8700509,8069304,7997258,7584044,7581362,7545954,19250911,19398892,19822672,20379614,20562859 4077 NM_031862,NM_031858,NM_005899,AC060780,AC109326,CH471152,DQ190450,DQ190451,DQ190452,DQ190453,DQ190454,DQ190455,DQ190456,DQ190457,DQ478408,U25764,AF227189,AK128512,AK290005,AK297425,AK299328,AK308324,AY450308,BC009808,BC012847,BM509256,CD673012,CR599421,CR604121,D30756,X76952 NP_114068,NP_114064,NP_005890,EAW60946,EAW60947,EAW60948,EAW60949,EAW60950,EAW60951,EAW60952,EAW60953,ABA29213,ABA29216,ABA29219,ABA29222,ABA29225,ABA29228,ABA29231,ABF14461,AAA93228,AAF74119,BAF82694,BAH12580,BAH13002,AAS15047,AAH09808,BAA06417,CAA54274,Q14596,Q3LRI0,Q3LRI6,Q3LRI9,Q3LRJ5,Q3LRJ8,Q3LRK1,ABA29210 Hs.277721,Hs.708158 1A1-3B|FLJ55359|FLJ98272|KIAA0049|M17S2|MIG19 cell migration-inducing gene 19 protein|membrane component chromosome 17 surface marker 2|membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)|membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen ca125)|migration-inducing protein 19|neighbor of BRCA1 gene 1 protein|next to BRCA1 gene 1 protein|protein 1A1-3B protein-coding 1345311 NBR2 neighbor of BRCA1 gene 2 (non-protein coding) This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 bases upstream of the last splice site for the transcript suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. [provided by RefSeq] 1580863 16438707,16052033,15777733,15533724,12477932,11508855,11179671,10531328,10205276,9261099,9215675 10230 NR_003108,AC135721,AL598622,AY597810,BC022065,BC034248,BC107773,BT007332,CR936675,U88573 Hs.373818,Hs.559259 DKFZp686F081|MGC104305|NCRNA00192 miscrna 1348281 NCALD neurocalcin delta This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq] 11964161,11256614,17671797,16381901,16344560,15489336,15489334,14702039,12477932,11836243,11267673,11230166,11115393,11076863,9110174,8889548,8619474,7852401,16189514,18500817,19342380,20125193,20379614 83988 NM_001040630,NM_001040627,NM_001040629,NM_001040626,NM_001040625,NM_001040628,NM_001040624,NM_032041,AP000426,AP001206,AP001328,AP001329,AP001575,CH471060,AB209015,AF052142,AF251061,AK055073,AK055097,AK096515,AK314523,AL136612,BC001131,BC009949,BC033319,BC036098,BC063428,BM681731,CR608225,DA185335,DA211806,DA215759,DA417037,DA776593,DA779293,DB284042 NP_001035720,NP_001035717,NP_001035719,NP_001035716,NP_001035715,NP_001035718,NP_001035714,NP_114430,EAW91835,EAW91836,EAW91837,BAD92252,AAK34951,BAG51461,BAG53310,BAG37117,CAB66547,AAH36098,AAH63428,P61601,Q59GU4,CAL37558,CAL38224,ABZ92067 Hs.492427,Hs.680132 MGC33870|MGC74858 neurocalcin-delta protein-coding 734022 NCAM1 neural cell adhesion molecule 1 1358750,1580863,2326079,2326080,2326070,2326077,2326074,2326067,2326066,2326076,2325979,2326075,2326028 19411161,19724850,19772585,19788570,19788615,19864234,19897577,20027291,20029409,20049565,20083228,20379614,20483466,8493579,20696944,20733159,19725832,20805222,16892559,10770948,3576199,19652998,19507465,19393299,19328558,19328310,19235015,19222860,19153015,19086053,18990213,18979395,18972120,18828801,18755075,18641363,18628406,18601968,18594005,18462256,18432248,18425046,18384787,18368482,18353777,18333845,18323797,18289872,18261743,18231917,18213713,18209097,17982624,17971410,17940597,17900814,17891186,17878347,17761687,17683591,17635242,17467233,17431094,17413444,17337466,17216340,17208489,17181871,17161382,17085484,17043020,17005551,17003032,16627685,16572491,16534119,16406048,16344560,16335952,16316416,16211277,16172115,16027151,15950781,15822905,15782066,15626024,15528382,15459479,15356097,15246157,15231874,15223636,15146195,15061198,15050861,15006709,14959847,14726964,14702039,14688313,12937148,12837245,12791681,12743109,12727026,12594840,12477932,12121226,12008081,12003861,11915324,11839780,11820619,11685193,11681838,10766765,10760298,10611478,9951628,9774483,9079653,8910306,8702635,8509458,8075973,7854457,7755976,7624364,3281256,3253057,3203385,2887295,2612216,1710251,1543753,1339414,17995934,10772929,16690409,20187302,20414008,20557674,20610389,20231901,21116278,19913121,20164549,20628086,20664990 2326079,2326080,2326070,2326077,2326074,2326067,2326066,2326076,2325979,2326075,2326028 4684 NM_000615,NM_001076682,AP000802,AP000880,AP000999,AP002853,CH471065,M22092,AB209443,AF005070,AK054570,AK054929,AK057509,AK292453,AK299865,AK303232,AK314589,AW131780,BC014205,BC019845,BC029119,BC047244,CR600745,DA231540,DA337649,M17409,M17410,NM_181351,M22094,S71824,S73101,U63041,X16841,X55322 NP_851996,NP_000606,NP_001070150,EAW67201,EAW67202,EAW67203,EAW67204,EAW67205,EAW67206,EAW67207,EAW67208,AAA59911,BAD92680,AAB61615,BAF85142,BAG61719,BAH13922,AAH14205,AAH29119,AAH47244,AAA59912,AAA59913,AAA59910,AAB31836,AAB20698,AAB04558,CAA34739,O00557,P13591,ACE87816,ACT64552 Hs.503878 CD56|MSK39|NCAM N-CAM-1|NCAM-1|antigen recognized by monoclonal antibody 5.1H11|neural cell adhesion molecule 1|neural cell adhesion molecule, NCAM protein-coding 1342930 NCAM2 neural cell adhesion molecule 2 The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq] 1580863 9226371,19086053,18706912,15146195,12754519,12477932,10830953,16009131,12538518,20029409,20379614,20932310 4685 NM_004540,AP001114,AP001115,AP001136,AP001137,AP001138,AP001252,CH471079,AA234378,AK299054,AK302870,BC036088,BC052946,U75330,AI207079 NP_004531,EAX10004,EAX10005,BAH12938,BAH13827,AAH52946,AAB80803,O15394 Hs.473450,Hs.656780 MGC51008|NCAM21 N-CAM-2|NCAM-2|neural cell adhesion molecule 2 protein-coding 1344259 NCAN neurocan Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM] 728116,1580863 1326557,7490074,19148283,19060911,19060906,18193043,15146197,15057824,14702039,12477932,11076863,10934197,9795216,9507007,9341124,8910306,8663515,7513709,20679960,20950796 728116 1463 NM_004386,AC003110,AC005254,AC138430,CH471106,AB210004,AF026547,AK126639,AK297395,AK309138,CN282070,CR595144,CR620706,CR626573 NP_004377,AAB86655,AAC25581,EAW84801,EAW84802,BAE06086,AAC80576,BAG59835,O14594,Q4LE67,AAI11852 Hs.169047 CSPG3|FLJ44681 chondroitin sulfate proteoglycan 3 (neurocan)|neurocan core protein|neurocan proteoglycan protein-coding 1604840 NCAPD2 non-SMC condensin I complex, subunit D2 20800603,10958694,10101332,18340469,17081983,16964243,16565220,15489334,15146197,14702039,12477932,12138188,11136719,10601332,8590280,20508983 9918 NM_014865,AC006064,CH471116,AK022511,AK125155,AK128354,AK303310,AL548223,BC016913,BC028182,CN307514,D63880 NP_055680,EAW88788,EAW88789,EAW88790,BAG51082,BAC86066,BAG54665,BAG64379,AAH16913,AAH28182,BAA09930,Q15021,Q6ZV00 Hs.5719 CAP-D2|CNAP1|KIAA0159|hCAP-D2 XCAP-D2 homolog|chromosome condensation related SMC associated protein 1|chromosome condensation-related SMC-associated protein 1|chromosome-associated protein D2|condensin complex subunit 1 protein-coding 1603696 NCAPD3 non-SMC condensin II complex, subunit D3 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM] 14532007,18223322,17903297,16565220,15635413,15489334,15302935,14702039,12477932,9110174,8619474,7584044,16169070,19915589,20379614 23310 NM_015261,AP001775,CH471065,AF070553,AK025549,AK025667,AK095267,AK124878,BC011408,BC098398,BC144524,CR614818,D29954 NP_056076,EAW67821,EAW67822,EAW67823,EAW67824,AAC28639,AAH11408,AAH98398,BAA06224,P42695,Q96FA6 Hs.438550 CAP-D3|FLJ42888|KIAA0056|MGC104671|hCAP-D3|hHCP-6|hcp-6 condensin-2 complex subunit D3 protein-coding 1605960 NCAPG non-SMC condensin I complex, subunit G 20546612,14968112,20189936,12138188,11136719,10910072,18977199,18391951,17353931,17081983,16565220,15662014,15489334,15148359,14702039,12477932 64151 NM_022346,AC005768,CH471069,AB013299,AF235023,AF331796,AK022512,AK023147,AK027511,BC000827,BC002337,BC068467,BC101476,BC143383,BG398543,BM743260,BX474610 NP_071741,EAW92785,BAB21557,AAG30732,AAG49627,BAB14069,BAB14429,BAB55165,AAH00827,AAH68467,AAI01477,Q6NUR1,Q9BPX3 Hs.446201,Hs.567567 CAPG|CHCG|FLJ12450|HCAP-G|MGC126525|NY-MEL-3 XCAP-G homolog|chromosome condensation protein G|chromosome-associated protein G|condensin complex subunit 3|condensin subunit CAP-G|melanoma antigen NY-MEL-3 protein-coding 1603208 NCAPG2 non-SMC condensin II complex, subunit G2 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPG2 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM] 18718915,16565220,16344560,15489334,14729962,14702039,14532007,12853948,12690205,12477932,18029348 54892 NM_017760,AC019084,AC093662,CH236954,CH471149,AK000318,AK022744,AK023347,AK092008,AK295057,AK301901,AK315699,BC005878,BC020560,BC028618,BC043404,BX537845,CA422216,CR594919,CR607927,DB069860 NP_060230,AAS07494,EAL23929,EAX04585,EAX04586,EAX04587,EAX04588,EAX04589,BAA91081,BAB14219,BAB14534,BAG52464,BAG58106,BAG63329,AAH05878,AAH20560,AAH43404,CAD97854,Q75L29,Q86XI2,Q9NXD3,ACE87640,ACE86950 Hs.18616 CAP-G2|FLJ20311|LUZP5|MTB|hCAP-G2 OTTHUMP00000202110|OTTHUMP00000202112|chromosome-associated protein G2|condensin-2 complex subunit G2|leucine zipper protein 5|more than blood homolog protein-coding 1352198 NCAPH non-SMC condensin I complex, subunit H This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. [provided by RefSeq] 1580863 11136719,11694586,18029348,16964243,16565220,16543152,15489334,12477932,9417923,9160743,7584044 23397 NM_015341,AC021188,CH471207,AK291053,AK299248,AK303725,AK308050,AK310649,BC024211,BI559873,BI560881,CR592757,CR610329,CR620375,D38553 NP_056156,EAW71370,BAF83742,BAG61279,BAG64701,AAH24211,BAA07556,Q15003,ABM84358,ABW03559 Hs.308045 BRRN1|CAP-H|HCAP-H OTTHUMP00000207475|OTTHUMP00000207476|OTTHUMP00000207477|XCAP-H homolog|barren homolog 1|barren homolog protein 1|chromosome-associated protein H|condensin complex subunit 2 protein-coding 1601870 NCAPH2 non-SMC condensin II complex, subunit H2 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPH2 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM] 15461802,14532007,12667442,12477932,10493829,20442714,20139978,19913121,20628086 29781 CR590330,CR590436,CR590552,CR590681,CR591701,CR599763,CR601437,CR601745,CR604635,CR605045,CR609849,CR614331,CR626379,CR626715,DB498781,NM_014551,CH471138,U62317,AL021682,BC000473,BC001298,BC001509,BC001833,BC001937,BC009441,BC014939,BM802841,BU632273,NM_152299,CR456604,NG_021419,NM_001185011 CAG30490,Q6IBW4,NP_689512,NP_055366,EAW73552,EAW73553,EAW73554,EAW73555,EAW73556,EAW73557,EAW73558,EAW73559,AAB03345,CAA16670,AAH00473,AAH01509,AAH01833,AAH01937,AAH09441,AAH14939,NP_001171940 Hs.697094 384D8-2|384D8_6|CAP-H2|CAPH2|MGC15858|MGC18000|MGC2455|MGC4133|MGC5305|MGC8640|hCAP-H2 CAP-H2 subunit of the condensin II complex|OTTHUMP00000196601|OTTHUMP00000196728|chromosome-associated protein H2|condensin-2 complex subunit H2|kleisin beta protein-coding 1319058 NCBP1 nuclear cap binding protein subunit 1, 80kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq] 1580863 8069914,7478990,9111328,9342333,15130578,11333016,7651522,9049306,9409616,12676794,7937105,19026660,17499042,17081983,16344560,16317009,16189514,16186820,16156639,15901492,15680326,15574332,15489334,15361857,15164053,15040442,12477932,12434151,12374755,12093754,11545740,11340157,11551508,12226669,17190602,17289661,17643375,17873884,18369367,18423201,19648179,19668212,10786834,9933612,8812508,2148205,10973943,20691628 4686 NM_002486,AL162385,AL445531,CH471105,AB209233,AK312807,BC001450,CA418527,DB086376,X80030,D32002 NP_002477,CAI12861,CAI12863,CAI15431,EAW58852,EAW58853,EAW58854,BAD92470,BAG35665,AAH01450,BAA06769,CAA56334,Q09161,ABM86308,ABW03802 Hs.595669,Hs.686479 CBP80|MGC2087|NCBP|Sto1 80 kDa nuclear cap-binding protein|NCBP 80 kDa subunit|nuclear cap-binding protein subunit 1 protein-coding 1313360 NCBP2 nuclear cap binding protein subunit 2, 20kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 12434151,7651522,7478990,9111328,15130578,11333016,9342333,9049306,9409616,12676794,17499042,15574332,15489334,15361857,15342556,15146197,15040442,14702039,12477932,12374755,12093754,11551508,11545740,11331597,10786834,9933612,8682299,8601613,8069914,12226669,17873884,18369367,19648179,19668212 22916 NM_007362,NM_001042540,AC011322,CH471191,BX537372,BX647994,CN421262,CR590424,D59253,X84157,AK093216,AK296144,AK297506,AK308192,AK316601,AL110262,AW440347,AY644767,BC001255,BP248419,BT006842,AK315903 NP_031388,NP_001036005,EAW53620,EAW53621,EAW53622,EAW53623,AAP35488,CAD97614,BAA09599,CAA58962,P52298,Q7Z3W9,ABM81629,ABM84813,EAW53624,BAG52672,BAG58884,BAG59919,BAG38188,AAV85455,AAH01255,BAH14274 Hs.591671 CBC2|CBP20|NIP1|PIG55 20 kDa nuclear cap-binding protein|NCBP 20 kDa subunit|NCBP interacting protein 1|NCBP-interacting protein 1|OTTHUMP00000208156|OTTHUMP00000208157|OTTHUMP00000208158|cell proliferation-inducing gene 55 protein|nuclear cap-binding protein subunit 2 protein-coding 1353799 NCBP2L nuclear cap binding protein subunit 2-like 18029348 392517 NG_011409,AL109946 CAO72051,A6PVI3 dJ820B18.1 pseudo 1602046 NCCRP1 non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 12477932 342897 NM_001001414,AC011443,CH471126,AK123941,BC067874,BC092493 NP_001001414,EAW56867,BAC85732,AAH67874,AAH92493,Q6ZVX7 Hs.726934 NCCRP-1 non-specific cytotoxic cell receptor protein 1 homolog|nonspecific cytotoxic cell receptor protein 1 homolog protein-coding 734133 NCDN neurochondrin This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq] 15790563,14559245,12477932,11984006,11162505,10684983,10524216,9628581 23154 NM_014284,NM_001014839,NM_001014841,AB027514,AC004865,CH471059,AB011179,AB018739,AB018740,AK295979,AL536768,AW207151,BC024592,BI545092 NP_055099,NP_001014839,NP_001014841,BAA77830,BAA77831,AAD05029,EAX07410,EAX07411,EAX07412,BAA25533,BAA85384,BAA85385,BAG58754,AAH24592,Q9UBB6,ABM82076,ABM85256 Hs.121870 KIAA0607 neurochondrin protein-coding 1606253 NCEH1 neutral cholesterol ester hydrolase 1 20947831,19851296,20198315,20353815,18782767,17052608,17052604,16344560,15489334,12477932,10718198 57552 NM_001146276,NM_001146277,NM_001146278,AC007919,AC069237,CH471052,AB037784,AK294811,AK295641,AK299422,AK304253,AK316431,AL512752,NM_020792,BC028734,BC047588,BG701753,BP395319,DA856205,DB289027,DC306836 NP_065843,NP_001139748,NP_001139749,NP_001139750,EAW78462,BAA92601,BAH11890,BAH12137,BAH13028,BAH14142,BAH14802,AAH28734,AAH47588,Q6PIU2 Hs.444099 AADACL1|NCEH OTTHUMP00000210873|OTTHUMP00000210946|arylacetamide deacetylase-like 1|neutral cholesterol ester hydrolase 1 protein-coding 1348698 NCF1 neutrophil cytosolic factor 1 The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq] 1600562,1624399,1624401,1580863 17207965,19929442,20167518,20817944,2848318,2547247,7938008,11094157,19410294,19366706,19192478,19130504,19077231,18983267,18765662,18523147,18424721,18390927,18287880,18070887,18045865,18028450,18004884,17925180,17922419,17586618,17478731,17438039,17217339,17150107,16778989,16608528,16326715,15489334,12853948,12681507,12477932,12176908,11740866,11373621,11133775,10772875,9373149,9329953,8125298,8089108,7545954,2550933,2398896,2011585,14694110,12023963,12539042,10899172,10369419,11120743,12169629,11796733,11733522,10486263,11485312,11278853,8766817,9914162,11258927,9083043,11716484,11027608,12618429,16189514,17651608,20495074,20592030,20407811,18546332,10436021,11145703,11248021,11375989,11535139,11741599,11893732,12056906,12356722,12734380,12855698,15618548,15629715,15759055,16052631,16375898,19329991,19632255,19717732,19807924,19833721,19948975,9121467,9255350 1600562,1624399,1624401 653361 U25793,NG_009078,AC083884,AF184614,U57835,AF330625,AF330626,AF330627,AK127905,AK223217,AK316552,BC002816,BC065731,M25665,M55067,NM_000265 ADQ32300,AAA93232,P14598,ABM84076,ABM87444,NP_000256,AAS07465,AAF34737,AAB95193,AAK19516,AAK19517,AAK19518,BAG54596,BAD96937,BAG65630,AAH02816,AAH65731,AAA57209,AAA59901 Hs.647047 FLJ79451|NCF1A|NOXO2|SH3PXD1A|p47phox 47 kDa autosomal chronic granulomatous disease protein|47 kDa neutrophil oxidase factor|NADPH oxidase organizer 2|NCF-1|NCF-47K|SH3 and PX domain-containing protein 1A|neutrophil NADPH oxidase factor 1|neutrophil cytosol factor 1|neutrophil cytosolic factor 1 (47kda, chronic granulomatous disease, autosomal 1)|neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)|nox organizer 2|nox-organizing protein 2|p47-phox protein-coding 1602015 NCF1B neutrophil cytosolic factor 1B pseudogene 19077231,12853948,12477932,12176908,10772875,9847074,9329953,16720733 654816 NR_003186,AC006995,AK292094,AK298655,AK316341,BC080194 BAF84783,BAG60825,BAH14712,A6NI72 Hs.655201 NCF-1B|SH3PXD1B pseudo 1602014 NCF1C neutrophil cytosolic factor 1C pseudogene 19077231,16344560,12477932,12176908,10772875,9847074,9329953,1554499,15775784,11940577,12130503,12681507,12101222,16460309,12152222,11970841,11893732,15024088,14761962,12855698,12356722,16297854,15618548,15777282,15256399,16626305,15213464,15181005,11903052,15033459,12859985,12732142,12719414,12672956,12589359,12556460,11796733,16293794,12023963,15629715,12734380,15225553 654817 NR_003187,AC124781,AK298739,AK301397,AK316329,BC071711,BC094845 BAG60886,BAG62932,BAH14700,A8MVU1 Hs.647047,Hs.648940,Hs.655201 SH3PXD1C pseudo 1319760 NCF2 neutrophil cytosolic factor 2 This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in two transcript variants that encode the same protein. [provided by RefSeq] 2314435,2314452,2314453,2314430,2314450,2314451,2314448,2314434,1624401,1580863 20679349,9624165,9255350,9083043,9070911,8975869,8889548,8748143,8286749,8257426,7903171,2393022,1979859,9914162,11027608,20167518,11248021,12813044,15642721,19170196,19439231,19625176,19692168,19717732,19953534,20056178,20074641,20237496,20375610,20406964,20438785,20503287,7738010,8036496,9121467,9365277,7938008,18029348,19505917,19423540,19423521,19372141,19258923,19116138,18676680,18625437,18424721,18029359,17910042,17712795,17703412,17537988,17462995,17060455,16987007,16710414,16626305,16608528,16344560,1692159,16297854,16293794,15513967,15489334,15342556,15256399,15181005,12719414,12716910,12477932,12207919,12169629,12130503,12121978,12101222,11929750,11917128,11896062,11893732,11796733,11781392,11733522,11705402,11483614,11278853,11090627,10672014,10598813,10498624,10486263,16310324,9642115,20842512,18546332,19913121,20628086,17651608 2314435,2314452,2314453,2314430,2314450,2314451,2314448,2314434,1624401 4688 AW951155,DA817767,NM_001190789,NM_001190794,NM_000433,NG_007267,AL137800,CH471067,DQ314879,DQ517931,U00777,U00778,U00779,U00780,U00781,U00782,NM_001127651,U00784,U00785,U00786,U00787,U00788,AF527950,AK296672,AK298713,AK312666,BC001606,BM979513,BP193903,BQ029626,BT007439,BU617086,CR593013,DA420141,DC358267,M32011,AB209647,U00783 NP_001177718,NP_001177723,NP_001121123,NP_000424,CAC19686,CAI19479,CAI19480,EAW91160,EAW91161,EAW91162,ABC40738,ABG74586,AAB60320,AAM89263,BAG59269,BAG60869,BAG35548,AAH01606,AAP36107,AAA36379,P19878,Q0Q616,Q59F14,BAD92884,ABM84576,ABM86738 Hs.587558 FLJ93058|NCF-2|NOXA2|P67-PHOX|P67PHOX 67 kDa neutrophil oxidase factor|NADPH oxidase activator 2|OTTHUMP00000033269|chronic granulomatous disease, autosomal 2|neutrophil NADPH oxidase factor 2|neutrophil cytosol factor 2|neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) protein-coding 1314271 NCF4 neutrophil cytosolic factor 4, 40kDa The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 20167518,8280052,8839867,19505917,19423521,19372141,19262523,18807499,18755982,18711001,18580884,17897462,17698849,16880255,16608528,16102984,15657040,15489334,15461802,15035643,12887891,12556460,12477932,12456638,12356722,12065324,12036891,11917128,11903052,11893732,11796733,11716484,11684018,11433301,11433300,11258927,10672014,10591208,10437784,10397171,9914162,9804763,9373149,9370364,9365277,9083043,8982388,8670049,8147882,8125298,7938008,243433,12813044,19423540,19692703,20056178,20406964,20438785,19913121,20628086 4689 NM_013416,NM_000631,AL008637,CH471095,DQ314880,U50720,U50721,U50722,U50723,U50724,U50725,U50726,U50727,U50728,U50729,AB025219,AB025220,AK223324,AK290924,BC002798,BT007346,BU076892,BX355636,CR456528,CR542078,CR595164,CR595418,CR616659,X77094,NG_023400 NP_038202,NP_000622,CAA15486,EAW60122,EAW60123,EAW60124,ABC40739,AAB39970,BAA89791,BAA89792,BAD97044,BAF83613,AAH02798,AAP36010,CAG30414,CAG46875,CAA54372,Q15080,Q53FG4,Q6FGM9,CAK54559,CAK54858,CAQ10741,CAQ10742,CAQ10743 Hs.474781 MGC3810|NCF|P40PHOX|SH3PXD4 NCF-4|SH3 and PX domain-containing protein 4|neutrophil NADPH oxidase factor 4|neutrophil cytosol factor 4|p40-phox protein-coding 1321736 NCK1 NCK adaptor protein 1 The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. [provided by RefSeq] 2298729,1580863 10428862,12379115,12620186,15342556,16344560,16374509,16966330,17474147,19242519,19807924,20079431,20129698,20237496,9846482,12110186,18955169,18835251,18212058,17984209,17944934,17906149,17803907,16835242,16636066,16595635,16543952,16525419,16503409,15951569,15556869,15489334,15469942,15187089,15144186,15051508,14757753,14559906,12819203,12477932,12181570,12154000,12149262,12135674,12091389,12087092,12074588,12007418,11959995,11741599,11689432,11494134,11487585,11418237,11340081,11279207,11278553,11278500,11278436,11278241,11240126,11160719,11024037,10808124,10805734,10766742,10747096,10671570,10521462,10508618,10409713,10330411,10229072,10206341,10026169,10022833,9843378,9837978,9737977,9697839,9694849,9600074,9430661,9405464,9362449,9344857,9314836,9233798,9135144,9024622,9010224,9006905,8910519,8879209,8824201,8810325,8605018,7956370,7862111,7806213,7706279,7565724,7517397,2107526,1448108,1333046,7926767,9891069,9346925,10391903,10747847,11950595,1333047,11157752,10204582,11724572,15388330,11483358,16729043,15297625,15558067,15696170,11533668,8890167,20562827,20800603 2298729 4690 BP339594,DA265476,NM_001190796,NM_006153,AC011597,CH471052,AK301460,AK312692,BC006403,X17576 NP_001177725,NP_006144,EAW79105,EAW79106,EAW79107,EAW79108,EAW79109,BAH13487,BAG35571,AAH06403,CAA35599,P16333,ABM84020,ACE87763,ACE87083 Hs.477693 MGC12668|NCK|NCKalpha NCK tyrosine kinase|SH2/SH3 adaptor protein NCK-alpha|cytoplasmic protein NCK1|melanoma NCK protein|nck-1|non-catalytic region of tyrosine kinase protein-coding 1314306 NCK2 NCK adaptor protein 2 This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 2300344,1580863 12110186,9737977,18723748,18555270,17906149,17803907,16835242,16752908,16636066,16604428,15900300,15764601,15489334,15096211,12794636,12477932,12213210,12206665,12074588,11950595,11557983,11514578,11240126,11027258,10887126,10026169,10022929,9843575,1333047,16189514,16169070,12470648,15117958,18086875,15350535,16337946,16525419,16713569,19242519,19807924,19956763,20237496,20379614,8889548 2300344 8440 NM_003581,NM_001004722,NM_001004720,AC009505,AC010978,CH471127,AF043119,AF047487,BC000103,BC007195,BC033176,BM555604,BM920530,CB959523,CR594525,CR597804,BG480643,BU738133,DB456958 NP_003572,NP_001004722,NP_001004720,AAY24332,AAY14937,EAX01753,EAX01754,AAC04831,AAC80284,AAH00103,AAH07195,O43639,Q53T91,Q53TG4 Hs.529244 GRB4|NCKbeta SH2/SH3 adaptor protein NCK-beta|cytoplasmic protein NCK2|noncatalytic region of tyrosine kinase, beta protein-coding 732467 NCKAP1 NCK-associated protein 1 1580863 11418237,15294869,17353931,10673335,15489334,15324660,15048733,15048123,14702039,14560022,14506234,12477932,12181570,9628581,9463375,9417078,9148763,8605018,15749123,16055720,9344857,15296760 10787 NM_205842,AC064871,AC108514,CH471058,AB011159,AB014509,AI215133,AK001291,AK292914,BC015025,NM_013436,BT007033 NP_038464,NP_995314,AAY24196,AAX93118,EAX10952,EAX10953,EAX10954,EAX10955,EAX10956,EAX10957,BAA25513,BAA77295,BAG50887,BAF85603,AAH15025,AAP35681,Q9Y2A7,ABM84471,ABM84735 Hs.603732 FLJ11291|HEM2|KIAA0587|MGC8981|NAP1|NAP125 NAP 1|membrane-associated protein HEM-2|nck-associated protein 1|p125Nap1 protein-coding 1323803 NCKAP1L NCK-associated protein 1-like The protein encoded by this gene is a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells, while hematopoietic protein 2 is preferentially expressed in brain, heart, liver and testis. The function of the HEM1 product has not been established but it is thought to play an essential role in oogenesis. [provided by RefSeq] 1580863 1932118,17696648,16417406,16344560,12477932,11337467,7643388,17875758 3071 NM_005337,AC025570,AC068789,AC079313,CH471054,CQ834718,AI924363,AK300783,AK314012,AU100069,AW575485,BC001604,BC064997,BC084547,BC093769,BC093771,BC143355,CR600496,DA820115,M58285,NM_001184976 NP_005328,EAW96786,EAW96787,CAH05574,BAG62447,BAG36723,AAH01604,AAH64997,AAH84547,AAH93769,AAH93771,AAA35964,P55160,Q5XG97,Q6P1M2,Q9BV52,NP_001171905 Hs.182014 HEM1 hematopoietic protein 1|membrane-associated protein hem-1|nck-associated protein 1-like protein-coding 1605652 NCKAP5L NCK-associated protein 5-like 20936779,15146197,14702039,12477932,10997877 57701 NM_001037806,AC131157,AB046822,AF370366,AK093900,BC007998,BC020433,BC033253,BC110599,BU617503,BX327000,CN359941,CN359946,CR611780 NP_001032895,BAB13428,AAQ15202,AAH07998,AAH33253,AAI10600,Q9HCH0 Hs.143067 FLJ36581|FP1193|KIAA1602|MGC129863 nck-associated protein 5-like protein-coding 1322714 NCKIPSD NCK interacting protein with SH3 domain The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing occurs in this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 10619843,10648423,17537434,17398099,16253999,16189514,15324660,14559906,12477932,11509578,11278500,11241789,11157975,15095401,16990791,17474147,19460367,19807924 51517 NM_016453,NM_184231,AB069981,AB069982,AC141002,CH471055,AF178432,AF303581,AJ242655,AK294151,AY453794,BC006255,BC016052,BC026280,CR609217,CR624793 Q9NZQ3,NP_057537,NP_909119,BAB63204,BAB63205,EAW64915,EAW64916,EAW64917,EAW64918,AAF35985,AAK09094,CAB65089,BAG57476,AAR83735,AAH16052,AAH26280 Hs.655006 AF3P21|DIP|DIP1|MGC23891|ORF1|SPIN90|WASLBP|WISH 54 kDa VacA-interacting protein|54 kDa vimentin-interacting protein|90 kDa SH3 protein interacting with Nck|DIP-1|NCK-interacting protein with SH3 domain|SH3 adapter protein SPIN90|SH3 protein interacting with Nck, 90 kDa|VIP54|WASP-interacting SH3-domain protein|dia interacting protein|dia-interacting protein 1|diaphanous protein interacting protein|diaphanous protein-interacting protein|wiskott-Aldrich syndrome protein-interacting protein protein-coding 1342988 NCL nucleolin Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq] 1580863 20628027,18029348,8321232,16403913,12944467,18809582,19515042,19409963,19393617,19332556,19225898,19026635,18789156,18701711,18618420,18504038,18321972,18292223,17767916,18299322,17692122,17674968,17626252,17535846,17255095,17130237,17081983,16982033,16964243,16889753,16777843,16751805,16698799,16601700,16582966,16571724,16508016,16341674,16329155,16245305,16212410,16156786,16153722,16135517,15823039,15815621,15492114,15371412,15302935,15044383,14702039,14679209,14638862,14623863,12804115,12634843,12565890,12559966,12506112,12477932,12429849,12388589,12324461,12185196,12147681,12138209,12096904,12027446,11438699,11162542,11115514,10983978,10660576,10503877,10393184,9918513,9822633,9512561,9388266,8663258,8620867,8567649,8530516,8065311,7993898,7642087,3409881,2737305,2394707,1860869,14978336,9642267,10567518,14559993,10967121,12427757,15674325,15173179,12029088,15064750,15121898,16568080,16582619,16648475,17220478,17289661,17620599,17928403,19270065,19554553,19581307,19615975,19657047,19710015,19757191,19864385,20007282,20011528,20075200,17215513,20936779,20571027 4691 AK001314,NM_005381,AC017104,CH471063,M60858,AK000221,AK000250,AK091742,AK095897,AK122805,AK127608,AK128584,AY320411,BC002343,BC006494,BC006516,BM761058,BQ001029,CR595829,CR603186,CR605221,CR609096 NP_005372,AAY24247,EAW70960,EAW70961,EAW70962,EAW70963,AAA59954,BAG50892,BAC03738,BAG53161,BAC87055,AAH02343,AAH06494,AAH06516,P19338,Q6ZS99,Q9BQ02 Hs.79110 C23|FLJ45706|FLJ59041 nucleolin protein-coding 1343218 NCLN nicalin homolog (zebrafish) 737633,1580863 17261586,18029348,16381901,15489336,15489334,15257293,15057824,14702039,12477932,11230166,11076863 737633 56926 BC007275,AC005331,AC011547,CH471139,NM_020170,AK022309,AK125002,AK172848,AK314044,AL136567,AL365369,BC003076,BC008920,BC010064,BC013283,BC019091,BC025926,CR533566,CR601193,FB794076,FB826795,HB664135,HB696854 AAC27667,EAW69330,NP_064555,EAW69331,EAW69332,EAW69333,EAW69334,EAW69335,BAD18812,BAG36753,CAB66502,CAB96945,AAH03076,AAH07275,AAH08920,AAH10064,AAH13283,AAH19091,AAH25926,CAG38597,Q969V3,CAL37888,CAW38766,CAW54087,CBC04638,CBC26779 Hs.657032 NET59 nicalin|nicalin homolog (zebrefish)|nicastrin-like protein protein-coding 2312879 NCLP1 nucleolin pseudogene 1 100302751 NG_012793,AL355987 pseudo 2974665 NCLP2 nucleolin pseudogene 2 100379142 AL590325,NG_016573 bA85L21.1 pseudo 1319167 NCOA1 nuclear receptor coactivator 1 The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 2298984,2293529,2306463,2293530,2326123 15572661,12917342,9223431,19276281,19255064,19203349,19183483,19095746,19064572,18845648,18660489,18284209,17919607,17429319,17135255,16882880,16775354,16723356,16606617,16269961,15862975,15615775,15572376,15530426,15456935,15313887,15249124,15231721,14757047,14715875,14601091,12954634,12933903,12909012,12569182,12529333,12482985,12477932,12208951,12189208,12163482,12145209,12138096,12118039,12114525,12082103,12039952,12024042,11864604,11831720,11818499,11773079,11704662,11698662,11689423,11514567,11330046,11266503,11250900,11165056,11136553,11113179,11076796,11069927,11050077,11003650,10934189,10848596,10809226,10757795,10722692,10713182,10688660,10660621,10652338,10594042,10567563,10567404,10558993,10508479,10497212,10454579,10449719,10381882,10334993,10334992,9878542,9874563,9832502,9812974,9786846,9782096,9744270,9642216,9575154,9556555,9488734,9445475,9427757,9407140,9328345,9296499,9223281,9171239,9041124,8754792,8616895,7481822,15661163,9751500,15256534,11971985,11867769,11574547,9626662,10847592,15184363,15688032,15641800,9346901,10938099,10454563,12612084,12665583,12796488,16352595,16456540,16957778,19453261,19485965,19763509,19934375,19953635,20003447,20145129,20379614,20682316,19913121,20628086 2298984,2293529,2306463,2293530,2326123 8648 NM_147223,NM_003743,NM_147233,AC013459,AC093798,CH471053,EF660499,AJ000881,AJ000882,AK226063,AK290019,BC035976,BC111533,BC111534,BE675986,BF975824,CB047008,U19179,U40396,U59302,U90661 NP_671756,NP_003734,NP_671766,AAX93184,EAX00746,EAX00747,EAX00748,ABS29266,CAA04371,CAA04372,BAF82708,AAI11534,AAI11535,AAA64187,AAC50305,AAC50631,AAB50242,Q15788 Hs.596314 F-SRC-1|KAT13A|MGC129719|MGC129720|NCoA-1|RIP160|SRC-1|SRC1|bHLHe42|bHLHe74 Hin-2 protein|OTTHUMP00000155181|OTTHUMP00000155182|OTTHUMP00000201137|PAX3/NCOA1 fusion protein|class E basic helix-loop-helix protein 74|nuclear receptor coactivator 1|protein Hin-2|renal carcinoma antigen NY-REN-52|steroid receptor coactivator 1|steroid receptor coactivator-1 protein-coding 732737 NCOA2 nuclear receptor coactivator 2 1580863,2326123 8670870,19453261,19277704,19264843,19255064,19240160,19183483,19095746,19052561,18845648,18660489,18656523,18281529,18174919,17704997,17081983,16649994,16613851,16410316,15988012,15766871,15731352,15698540,15657427,15641800,15563469,15557560,15231721,15207724,15184363,15072553,14662770,14500758,12970370,12756300,12682292,12676584,12588987,12481024,12477932,12208521,12151000,12145209,12130539,12089346,12082103,12060666,12050280,12024042,11986669,11981034,11971985,11937504,11931740,11818499,11704662,11518802,11477071,11266503,11250900,11050077,10944516,10748178,10692587,10617585,10598588,10594042,10478845,10381882,9812974,9717843,9590696,9558366,9430642,9111344,18499756,12837248,12612084,15684378,14966121,14593076,12810069,11851396,11514567,14578343,11085509,9920895,10706629,10454563,19913121,20628086,11675124,12796488,16957778,18798693,19641626,20047289,20379614 2326123 10499 NM_006540,AC021558,AC022730,AC084251,AC090731,CH471068,CQ834204,AK298528,AK308426,AW504723,BC092442,BC114383,CK141607,EF374064,X97674 NP_006531,EAW86963,CAH05317,BAG60730,AAH92442,AAI14384,ABN46991,CAA66263,Q15596,Q569J4 Hs.446678 GRIP1|KAT13C|MGC138808|NCoA-2|SRC2|TIF2|bHLHe75 class E basic helix-loop-helix protein 75|glucocorticoid receptor-interacting protein-1|hTIF2|nuclear receptor coactivator 2|transcriptional intermediary factor 2 protein-coding 1344181 NCOA3 nuclear receptor coactivator 3 The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Two transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq] 1580863,1642050,2326123 15572661,12917342,9267036,9346901,19491275,19470168,19453261,19433130,19285025,19277704,19255064,19198856,19183483,19144644,19102007,19095746,19064572,19052561,18922467,18845648,18827493,18765637,18676680,18660489,18644862,18636124,18593949,18593948,18426732,18385039,18313384,18246597,18162290,17968310,11747336,10652338,9489701,15184363,10655477,14578343,15808510,15788656,15723037,17927986,17805331,17646391,17636398,17574025,17532621,17360478,17223341,17043108,17008696,16964243,16951183,16940181,16923966,16921507,16916939,16760465,16670003,16648476,16458427,16434590,16365010,16298470,16263829,16244359,16227615,16135815,15987430,15900600,15788663,15698540,15677324,15550471,15548698,15448000,15383283,15302935,15289619,15169882,14747462,14691461,14684685,14648706,14645221,14611647,14557830,14503806,12833450,12650696,12602902,12497632,12477932,12145209,12082103,11971985,11929748,11927493,11823864,11780052,11708882,11704662,11477071,11389589,11316771,11279242,11266503,11250900,11161840,11094166,11092404,11087842,11056690,11050174,11050077,10965917,10866661,10681591,10598588,10504300,10490106,9832502,9812974,9727751,9445475,9252329,9238002,9225980,8889548,8758910,7791754,11163245,10757795,11668176,11851396,10944516,11076796,14966121,20332317,11353774,12665583,15145444,15563469,15604093,15937332,16219912,16344560,16439211,16456540,16957778,17441340,18521745,18798693,19170196,19176441,19552757,19625176,19628566,19652917,19692168,19716257,20003447,20086010,20124470,20159552,20180986,20305690,20381444,20422428,8616895,16860316,20137343,20852035,20155818,20181721,20663904,20392877,20064830,19913121,20554694,20628086 1642050,2326123 8202 DB091786,EF488684,NG_016810,NM_001174087,NM_001174088,NM_006534,AL021394,AL034418,AL353777,CH471077,AB209863,AF010227,AF012108,AF016031,AF036892,AK289683,AK296810,AK302588,AK302595,AK308346,BC092516,BC119001,BC122547,BM692321,BU588121,CA450268,NM_181659 ABO43042,NP_001167558,NP_001167559,NP_858045,NP_006525,CAB40662,CAC17693,CAI42141,EAW75696,EAW75697,EAW75698,EAW75699,EAW75700,EAW75701,EAW75702,BAD93100,AAC51663,AAC51677,AAC51849,AAB92368,BAF82372,BAG59383,BAG63841,BAG63847,AAH92516,AAI19002,AAI22548,Q0IIN7,Q569F6,Q59EE8,Q9Y6Q9 Hs.592142 ACTR|AIB-1|AIB1|CAGH16|CTG26|KAT13B|MGC141848|RAC3|SRC-3|SRC3|TNRC14|TNRC16|TRAM-1|bHLHe42|pCIP CBP-interacting protein|OTTHUMP00000031716|amplified in breast cancer 1 protein|class E basic helix-loop-helix protein 42|nuclear receptor coactivator 3|receptor-associated coactivator 3|steroid receptor coactivator protein 3|thyroid hormone receptor activator molecule 1 protein-coding 1348400 NCOA4 nuclear receptor coactivator 4 This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq] 2293533,2293536,2293537,2293535,2293534,1580863 8187085,8180971,7529046,12612084,11779876,20717903,20877624,15572661,15563469,8643607,15609325,19487296,18660489,18156210,18091327,17919607,17081983,16762319,16713569,16381901,16344560,15805579,15772083,15642480,15489336,15489334,12897377,12881713,12649293,12477932,12068007,11818501,11786418,11256614,11230166,11076863,10517667,10347167,10085091,9892017,9192845,8290261,11404460,10318905,9636157,10969079,16385451,19730683,20167864,20012784 2293533,2293536,2293537,2293535,2293534 8031 NM_001145261,NM_001145263,NM_005437,NM_001145262,AL450342,CH471260,AB064669,AK129911,AK130612,AK292480,AK293978,AK302794,AK304123,AK310849,AK312325,AL162047,AY425959,BC001562,BC012736,CR595011,CR599220,CR601441,DA415606,NM_001145260,DA860108,DB075100,L49399,X71413,X77548,NG_023372 NP_001138732,NP_001138733,NP_001138735,NP_005428,NP_001138734,CAI14477,CAI14478,CAI14479,EAW53686,EAW53687,EAW53688,EAW53689,BAB93520,BAF85169,BAG57348,BAG63997,BAG65022,BAG35247,CAB82390,AAR07952,AAH01562,AAH12736,AAC37591,CAA50536,CAA54673,Q13772,Q6TAR0,Q8NI67,Q96E88,CAL38205,ABM82524,ABM85718,ACT64385,ACT64386 Hs.643658,Hs.709644 ARA70|DKFZp762E1112|ELE1|PTC3|RFG 70 kDa AR-activator|70 kDa androgen receptor coactivator|NCoA-4|OTTHUMP00000019602|RET-activating gene ELE1|androgen receptor coactivator 70 kDa protein|androgen receptor coactivator, 70-kD|androgen receptor-associated protein of 70 kDa|nuclear receptor coactivator 4|papillary thyroid carcinoma 3|ret fused|ret-activating protein ELE1 protein-coding 1354049 NCOA4P nuclear receptor coactivator 4 pseudogene 326605 NG_002594,AL391261 NCOA4P pseudo 1317043 NCOA5 nuclear receptor coactivator 5 This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Two alternatively spliced transcript variants for this gene have been described. However, the full length nature of one of the variants has not been determined. 1580863 20650312,17081983,16094384,15146197,15073177,12477932,11780052,11113208,10997877 57727 CN369226,AL035662,AL162458,CH471077,CS185596,AB046857,AF230533,AF470686,BC056872,BC140836,BC151133,NM_020967 Q5JY17,NP_066018,CAI42971,CAI42972,CAH74052,EAW75764,EAW75765,EAW75766,EAW75767,EAW75768,EAW75769,EAW75770,CAJ42777,BAB13463,AAG36793,AAO33457,AAI40837,AAI51134,Q9HCD5 Hs.654991 CIA|bA465L10.6 NCoA-5|coactivator independent of AF-2|nuclear receptor coactivator 5 protein-coding 735677 NCOA6 nuclear receptor coactivator 6 The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. The encoded protein may also act as a general coactivator since it has been shown to interact with some basal transcription factors, histone acetyltransferases, and methyltransferases. [provided by RefSeq] 1580863 20721975,11443112,11302752,18029348,10567404,19329434,18660489,18552123,18462265,18263591,15764585,15302935,14960326,14734562,14645241,12724417,12519782,12482968,12477932,12215545,12189208,12168954,12153040,12039952,11780052,11773444,11704680,11517327,10866662,10823961,10788465,10681503,8758910,8724849,8263591,7536696,11158331,10847592,11912212,14578865,10497212,14638867,15231748,15604093,17761849,19556342,20379614 23054 NM_014071,AL049709,AL109824,CH471077,AF128458,AF171667,AF177388,AF208227,AF245115,AI498955,AK027040,BC035676,BC047886,BC069829,BC114613,BC136272,CR590952,D80003,L37706 NP_054790,CAB92721,EAW76254,EAW76255,AAF37003,AAF13595,AAF16403,AAF78480,AAI14614,AAI36273,BAA11498,AAF71829,Q14686,Q1RMZ3 Hs.368971 AIB3|ANTP|ASC2|HOX1.1|HOXA7|KIAA0181|NRC|PRIP|RAP250|TRBP NRC RAP250|OTTHUMP00000030705|PPAR-interacting protein|activating signal cointegrator 2|activating signal cointegrator-2|amplified in breast cancer protein 3|amplified in breast cancer-3 protein|cancer-amplified transcriptional coactivator ASC-2|nuclear receptor coactivator 6|nuclear receptor coactivator RAP250|nuclear receptor-activating protein, 250 kDa|peroxisome proliferator-activated receptor interacting protein|peroxisome proliferator-activated receptor-interacting protein|thyroid hormone receptor binding protein|thyroid hormone receptor-binding protein protein-coding 1603583 NCOA7 nuclear receptor coactivator 7 10395741,11256614,18497940,17391516,17079118,16381901,16344560,15489336,15489334,14702039,14574404,12880961,12477932,12139968,11971969,11230166,11076863,8197458,20562859 135112 NM_001199619,NM_001199620,DA992384,NM_001199621,NM_001199622,NM_001122842,AL035689,NM_181782,AL078594,AL136163,CH471051,AB074156,AB074157,AF493978,AJ420542,AK094706,AK127512,AK294558,AK307395,AL832621,AL832628,AL834442,AY364254,BC009399,BC033612,BC036461,BC039853,BC071782,BC137094,BC137095,BX537385,DA770225 NP_001186548,NP_001186549,NP_001186550,NP_001186551,NP_861447,NP_001116314,CAI42387,CAI42388,CAI42389,CAI42390,CAI42397,CAI20069,CAI20070,CAI20071,CAI20072,CAI42378,CAI42379,CAI42380,CAI42381,CAI42382,CAI42383,CAI42384,CAI42385,CAI42386,EAW48130,EAW48131,EAW48132,EAW48133,EAW48134,BAE45731,BAE45732,AAM27392,BAG54516,BAH11810,CAD90002,CAD89948,CAD39102,AAQ76813,AAH09399,AAH33612,AAH36461,AAH71782,AAI37095,AAI37096,CAD97627,Q3LID7,Q3ZTS4,Q5JVK8,Q5JVK9,Q5JVL0,Q5JVL1,Q5JVL2,Q5TF96,Q5TF97,Q5TF98,Q6PK00,Q86TE3,Q8N3C8,Q8N4U9,Q8NI08,BAC04402,CAL37773,CAL38057,CAL38361,CAL38384,CAL38746 Hs.171426 ERAP140|ESNA1|FLJ45605|MGC88425|Nbla00052|Nbla10993|dJ187J11.3 140 kDa estrogen receptor-associated protein|OTTHUMP00000017144|estrogen nuclear receptor coactivator 1|estrogen receptor associated protein 140 kDa|nuclear receptor coactivator 7|putative protein product of Nbla00052|putative protein product of Nbla10993 protein-coding 730890 NCOR1 nuclear receptor co-repressor 1 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. An alternatively spliced transcript variant has been described, but its full length sequence has not been determined. [provided by RefSeq] 1580863,2326123 10049357,11889044,12799135,15109542,15336696,15604093,16464943,16917504,17255935,17416745,17468742,18326024,19608741,19781322,19955185,20003447,20181716,17079677,18829436,18978041,19011633,19032343,20587609,9531570,9482666,9405624,9111334,8948627,18206970,12460926,9878542,11463857,12569182,11533236,10406466,15256534,14593076,10809664,11867749,15333839,15729358,15531890,12738788,15829968,15175761,12011091,12007404,11997503,11931768,11903058,11877444,11804585,11748154,11509652,11486045,11466315,11441023,11430826,11331609,11113190,11013263,10944117,10940306,10898795,10882117,10734313,10675041,10640275,10573424,10470851,10444336,10441327,10441075,10336495,10077563,9724795,9702189,9694793,19183483,19126649,19064572,19048289,18852122,18832723,18669643,18660489,18637017,18632669,18586123,18362166,17768398,17630505,17081983,17073437,16964243,16914745,16849648,16730330,16713569,16373395,16216492,16195251,16141343,16024779,15878880,15802375,15788656,15761026,15695367,15598662,15561719,15377655,15302935,15231748,15001550,14667819,14527417,14525983,12904255,12890497,12861000,12648520,12634383,12628926,12590135,12477932,12466959,12150997,12149646,12145334,12089345,12077342,7566114,18052923,19414341,20628086,19913121,17182846,17210713,19098224,19147702,19211732,19244234,20581824,20466759 2326123 9611 AW015698,BJ995810,NM_001190438,NM_001190440,NM_006311,AC002553,AC005971,CH471222,AB028450,AB028451,AB028970,AF044209,AF087856,AF303584,AF303585,AF303586,AK295893,AK302746,AK307614,AK310405,AL137641,BC026028,BC035748,BC050594,BC056862,BC058511,BC068996,BC107772,BC142648,BC167431,CR625140 NP_001177367,NP_001177369,NP_006302,EAX04492,EAX04493,EAX04494,EAX04495,EAX04496,BAA83818,BAA83819,BAA82999,AAC33550,AAP97166,AAO32940,AAO32941,AAO32942,BAG58687,BAG63960,CAB70854,AAH26028,AAH50594,AAH56862,AAH58511,AAH68996,AAI07773,AAI42649,AAI67431,O75376,Q05CG3,Q3B773,Q6NTH1,Q6PDT8,Q6PGR4,Q7Z516,Q86W52,Q86YY0,Q86YY1,Q86YY2,Q9NSZ0,Q9UPY1,Q9UPY2,AAI72437 Hs.462323 KIAA1047|MGC104216|N-CoR|N-CoR1|TRAC1|hCIT529I10|hN-CoR OTTHUMP00000065577|OTTHUMP00000065578|nuclear receptor co-repressor 1|nuclear receptor corepressor 1|thyroid hormone- and retinoic acid receptor-associated corepressor 1 protein-coding 1321111 NCOR2 nuclear receptor co-repressor 2 2314971,2298984,2306463,1625347,1580863,2326123 10713164,15016912,16129689,18052923,18029348,19417136,19223455,19183483,19098224,18950845,18852122,18838553,18660489,18632669,18487509,18362166,17991421,17902051,17383980,17081983,16712523,16480812,16453284,16373395,15843525,15802375,15713534,15635693,15632172,15319284,15302935,15300237,15146197,14715875,14690607,12840002,12771131,12589049,12554770,12477932,12441355,12388540,12242670,12139968,12107410,12011091,11997503,11972046,11931768,11929749,11929748,11867749,11845213,11804585,11739383,11726519,11585900,11559707,11509665,11435691,11331609,11134019,11113190,10944117,10809664,10777532,10406466,10395741,10097068,10077563,9765306,9751500,9702189,9267036,9225980,8889548,8813722,7566127,7566114,11158331,12460926,9878542,11518802,10898795,10611298,10644367,10757795,11013263,14982881,9256429,11430826,11404076,14527417,12628926,12502735,10640276,10640275,11466315,11959865,11923464,10869435,12970571,15729358,15531890,12738788,15494311,9486654,15175761,14593076,20555024,11259580,11509652,12007404,12072427,12665583,12904255,15062576,15231748,15604093,15878880,16030140,16042694,16147992,16219912,16893456,16924111,17347654,18546531,19432593,19730683,19851296,19904269,19934400,20003447,20198315,9405624,20392877,19144721,19211732,19244234,19955185,16956611,17073437,19617623,21083371 2314971,2298984,2306463,1625347,2326123 9612 NM_001077261,NM_006312,AC069261,AC073592,AC073916,CH471054,AB209089,AF113003,AF125672,AK127788,AY965853,BC004326,BC020427,BM687540,BU172348,BX390462,CA396349,CN423531,CX873148,S83390,U80750,NG_022928 NP_001070729,NP_006303,EAW98448,EAW98449,EAW98450,EAW98451,EAW98452,EAW98453,BAD92326,AAD20946,AAD22973,AAX77219,AAH04326,AAB50847,AAB91446,Q9BT61,Q9Y618 Hs.137510 CTG26|FLJ25011|N-CoR2|SMAP270|SMRT|SMRTE|SMRTE-tau|TNRC14|TRAC|TRAC-1|TRAC1 CTG repeat protein 26|OTTHUMP00000197398|OTTHUMP00000197399|OTTHUMP00000197400|OTTHUMP00000197402|T3 receptor-associating factor|nuclear receptor corepressor 2|silencing mediator for retinoid and thyroid hormone receptors|silencing mediator of retinoic acid and thyroid hormone receptor|thyroid-, retinoic-acid-receptor-associated corepressor protein-coding 1348186 NCR1 natural cytotoxicity triggering receptor 1 1580863 17207965,20638936,9730896,15654827,18941207,18713971,18275895,18023431,17972960,17875681,17056548,16690951,16262248,15728472,15657183,15489334,15328155,14754506,14635045,14504081,12960161,12951052,12731048,12477932,11907104,10049942,9625766,9314561,19498463,20023661,20237496 9437 NM_004829,NM_001145457,NM_001145458,NR_027041,NR_027043,AC011476,AC011501,CH471135,CU151839,AJ001383,AJ006121,AJ006122,AJ006123,AY346373,BC064806 ADQ32569,NP_004820,NP_001138929,NP_001138930,EAW72308,EAW72309,EAW72310,EAW72311,EAW72312,CAQ09212,CAQ09213,CAQ09214,CAQ09215,CAQ09216,CAQ09217,CAA04714,CAA06872,CAA06873,CAA06874,AAQ54328,AAH64806,O76036 Hs.97084 CD335|FLJ99094|LY94|NK-p46|NKP46 NK cell-activating receptor|hNKp46|lymphocyte antigen 94 homolog (activating NK-receptor; NK-p46)|natural cytotoxicity triggering receptor 1|natural killer cell p46-related protein protein-coding 1342633 NCR2 natural cytotoxicity triggering receptor 2 19635919,20237496,17567994,20638936,10049942,18092004,18077718,18023431,17536787,16210654,15941912,15728472,15657183,14707061,14574404,12791260,12731048,12653925,12645956,12351833,21116278 9436 NM_001199509,NM_001199510,NM_004828,AL136967,CH471081,AJ010099,AJ010100 NP_001186438,NP_001186439,NP_004819,CAC09452,CAC09453,CAC09454,EAX04039,EAX04040,EAX04041,EAX04042,CAB52289,CAB52290,O95944,AAI66647 Hs.194721 CD336|LY95|NK-p44|NKP44|dJ149M18.1 NK cell activating receptor (NKp44)|NK cell-activating receptor|lymphocyte antigen 95 (activating NK-receptor; NK-p44)|lymphocyte antigen 95 homolog (activating NK-receptor; NK-p44)|natural cytotoxicity triggering receptor 2|natural killer cell p44-related protein protein-coding 1353948 NCR3 natural cytotoxicity triggering receptor 3 Natural cytotoxicity receptors (NCRs), such as NCR3, are activating natural killer (NK) cell receptors that belong to the immunoglobulin (Ig) superfamily. NCR3 is expressed in all resting and activated NK cells and forms a complex with CD3-zeta (CD3Z, or CD247; MIM 186780) (Sato et al., 2001 [PubMed 11782277]).[supplied by OMIM] 1580863 16304049,10941844,7590964,19143814,19079260,18852879,18802053,18713971,18275895,18157817,18092004,18055229,18023431,17436233,17208487,16690951,16362817,16272287,15972650,15784725,15728472,15657183,15489334,14656967,14635045,14574404,12731048,12486241,12477932,11895890,11782277,10562324,10202016,8824804,19913121,20587610,20628086,20663564,19528259,19551844,19580844,19851445,17207965,20812318,20712903 259197 CR942185,Y14768,AB055881,AF031136,AF031137,AF031138,AJ223153,BC018752,BC052582,BG744854,NM_001145466,NM_147130,NM_001145467,AF129756,AL662801,AL662847,AL929587,BA000025,BX248519,BX927320,CH471081,CR753892,CR759886,CR759905,NG_021176 CAQ08774,CAQ08775,CAQ07727,CAQ07728,CAA75063,CAA75064,CAA75065,CAA75066,CAA75067,CAA75068,BAB78472,AAB86578,AAB86579,AAB86580,CAB54004,AAH52582,O14931,Q05D23,NP_001138938,NP_667341,NP_001138939,AAD18088,CAI18302,CAI18303,CAI18304,CAI18305,CAI17688,CAI17689,CAI17690,CAI17691,CAI18660,CAI18661,CAI18662,CAI18663,BAB63393,CAI41953,CAI41954,CAI41955,CAI41956,CAQ10009,CAQ10010,EAX03439,EAX03440,EAX03441,CAQ06951,CAQ06952,CAQ07224,CAQ07225,CAQ07226,CAQ07227,CAQ08772,CAQ08773,AAH18752,ADQ32103 Hs.509513 1C7|CD337|LY117|MALS|NKp30 NK-p30|activating NK-A1 receptor|activating natural killer receptor p30|lymphocyte antigen 117|natural cytotoxicity triggering receptor 3|natural killer cell p30-related protein protein-coding 1350309 NCRNA00028 non-protein coding RNA 28 140875 AL121751,NR_024358,AI675392,BX280465 Hs.283478 C20orf93|dJ1093G12.6 miscrna 1351750 NCRNA00029 non-protein coding RNA 29 12477932,11780052,11181995 100144596 CH471077,AL117533,BC069708,BC134343,AL121673,AA609342,NR_028295 EAW75309,EAW75310 Hs.710471 C20orf51|DKFZp434E222|MGC133148|bA305P22.4 miscrna 1349797 NCRNA00032 non-protein coding RNA 32 17099875 158035 NR_026687,NR_026679,AL133411,AF418573 P0C843 Hs.201554 C9orf14 miscrna 1602380 NCRNA00051 non-protein coding RNA 51 12477932 619434 NR_024378,BC008253,AC103758 Hs.393308 C8orf43 miscrna 2303659 NCRNA00052 non-protein coding RNA 52 14702039,12477932 145978 AC020687,CH471101,CS223363,AK056023,BC066551,NR_026869 EAX01986,CAJ46921,BAB71075,Q96N35 Hs.350808 FLJ31461|TMEM83 miscrna 2300355 NCRNA00081 non-protein coding RNA 81 20603001,15164054,14702039,12477932,15489334,19081074,19549489 92482 NM_001195304,NM_001195305,NM_001195306,NM_001195307,NR_024141,AL158163,AK021501,AK025724,AK307126,AK307314,BC015550,BC062778,BC073157,BC104248,BC104249,BC105804,BC113000,BC113001,DB450918 NP_001182233,NP_001182234,NP_001182235,NP_001182236,A8MTZ0 Hs.232543,Hs.651480 BBIP1|BBIP10|NCRNA00081|bA348N5.3 BBSome-interacting protein 1|BBSome-interacting protein of 10 kDa|UPF0604 protein|non-protein coding RNA 81 protein-coding 2301581 NCRNA00085 non-protein coding RNA 85 14702039,12975309,12477932 147650 NR_024330,AC018755,CH471135,AK024362,AY358799,BC041134,BC104208,BC104209 EAW72035,EAW72036,EAW72037,AAQ89159,AAI04209 Hs.467174 MGC125919|MGC125920 miscrna 1605492 NCRNA00086 non-protein coding RNA 86 15146197,12477932,12107410 399668 NR_024359,AL450472,BC030620,BC051704,CA389121,CN430413,DR001138 Hs.374414 MGC39606 miscrna 2301114 NCRNA00087 non-protein coding RNA 87 644596 NR_024493,AL590325,AK123302 Hs.656427 FLJ41308 miscrna 2300350 NCRNA00092 non-protein coding RNA 92 100188953 AL159167,NR_024129,BC043559 Hs.434310 bA346B7.1 miscrna 2300361 NCRNA00093 non-protein coding RNA 93 14702039 100188954 AL441886,AL627434,NR_024130,AK098111 Hs.656104 bA287G8.2 miscrna 2300360 NCRNA00094 non-protein coding RNA 94 14702039,12477932 266655 NR_015427,AL445931,AK092667,AY203934,BC053543,BC065204,BC094875,BC108326,BI550746,CR593670 Hs.654869 FLJ35348|LP2477|bA374P20.3 miscrna 2292065 NCRNA00095 non-protein coding RNA 95 14702039,12477932,8012384 283932 NR_024348,AC135048,CH471192,Z64539,AK090544,AK092263,BC101464,BC101988,BC105687,BC105926 EAW52191,BAC03841,Q494R0 Hs.711535 MGC125469|MGC125470|MGC125472 miscrna 1349420 NCRNA00097 non-protein coding RNA 97 54147 AA843704,BX100223 Hs.124532 C21orf8 miscrna 1350089 NCRNA00098 non-protein coding RNA 98 10830953 54091 AW138631 Hs.565736 C21orf20 miscrna 2300352 NCRNA00099 non-protein coding RNA 99 12515386 359822 NR_002813,AC107462,AY072607,AY072608,AY072611,BK000166 Hs.354058 UM9(5)|UM9-5 miscrna 3497317 NCRNA00102 non-protein coding RNA 102 100359394 BC034825 Hs.571720 miscrna 3004586 NCRNA00103 non-protein coding RNA 103 11181995,12477932,14702039 401577 AC097314,AK023533,AK125149,BC019893,CH471074,CR600952,NR_033380,NR_033381,XM_001714655,XM_001716015,XM_001717305,XM_379694 EAW98695,XP_001714707,XP_001716067,XP_001717357,XP_379694 Hs.444541 CXYorf12|FLJ43159 miscrna 1625845 NCRNA00104 non-protein coding RNA 104 100048902 AL683807 CXYorf6 protein-coding 1345758 NCRNA00105 non-protein coding RNA 105 14702039,12477932 80161 NR_026711,NR_026710,AL683870,CH471074,AF193043,AK023392,BC093994 EAW98681,AAG22471,BAB14557,Q9H8Q0 Hs.521856 ASMTL-AS|ASMTLAS|CXYorf2|FLJ13330|NCRNA00105 miscrna 1603233 NCRNA00106 non-protein coding RNA 106 8889549,8048971 751580 D29222,H65775,H65776,R00579 Hs.495569 CXYorf8 miscrna 1602636 NCRNA00107 non-protein coding RNA 107 16344560,14702039,12477932 283981 NR_027231,AL954664,AK023454,BC041934,DA066179,DA521837,NR_027232 Hs.575741 CXYorf10 miscrna 1605742 NCRNA00108 non-protein coding RNA 108 677739 NG_005526,AL954722 CXYorf11 pseudo 1352884 NCRNA00110 non-protein coding RNA 110 12036298,11329013 642976 NR_027021,AF107258,AP000237,AW150267,AY077697,BG187681 AAL82537 Hs.473554 C21orf9|GRIK1-AS|GRIK1AS|NCRNA00110 miscrna 1353518 NCRNA00111 non-protein coding RNA 111 10830953 54090 NR_024367,AP001614,BX099637,AP001615 Hs.570442 C21orf21 miscrna 1344622 NCRNA00112 non-protein coding RNA 112 11707072,10830953 54089 AP001615,NR_024028,AA417025,AY040089 Hs.98186 C21orf22 miscrna 1345802 NCRNA00113 non-protein coding RNA 113 10830953 54088 BF434914,NR_024357,AP001608,BF434914,NR_024357 Hs.570434 C21orf23 miscrna 1349082 NCRNA00114 non-protein coding RNA 114 20662065,14693372,10830953 400866 NR_027065,NR_027066,NR_027067,AP001039,AY204744,AY204745,AY204746,AY204747,AY204748,AY204749,AY204750,BF002570,AP001038 AAP41721,AAP41722,Q6XXX2 Hs.278704 C21orf24 miscrna 2301593 NCRNA00115 non-protein coding RNA 115 12477932 79854 NR_024321,AL669831,AK026292,BC017762 CAM12826,BAB15434 Hs.351445 FLJ22639 miscrna 2303856 NCRNA00116 non-protein coding RNA 116 12477932 205251 NR_027063,AC092664,CH878608,AF504645,BC031315,BC064430,AC140479,BC133660 EAW50629,AAM28196,Q8NCU8 Hs.128499 miscrna 2303855 NCRNA00117 non-protein coding RNA 117 11181995 344405 NR_027258,AC012358,CH471053,CR612843 EAX00102,A6NEY8 Hs.445292 NCRNA00117|PRDXDD1P|Prdxdd1|Ybakd1 pseudo 2301570 NCRNA00118 non-protein coding RNA 118 12477932,10686491 138948 NR_002783,AL365494,AF129263,AF129264,BC067277 Hs.223858 miscrna 2300994 NCRNA00119 non-protein coding RNA 119 12477932 348808 NR_002811,AC018916,AC055732,AC079942,BC036463,BC039375,BC048124 Hs.586111 miscrna 2300995 NCRNA00120 non-protein coding RNA 120 55389 NR_002767,AL133211,AL525197 Hs.662132 PRO2266 miscrna 1602308 NCRNA00152 non-protein coding RNA 152 12477932,8889548 112597 NR_024205,NR_024206,NR_024204,AC068491,AC133644,CH878354,AK312010,BC009508,BC010491,BC070202,BC073906,BM989746,CF129206,DW440910,ES312964 AAY24059,AAY24009,EAW50475,BAG34948 Hs.652166 C2orf59|MGC17532|MGC4677|MGC88182 miscrna 1344332 NCRNA00154 non-protein coding RNA 154 140846 AL121753 C20orf120|dJ614O4.3 miscrna 1350634 NCRNA00157 non-protein coding RNA 157 10830953,7757816 54075 NR_024354,AP000404,T74237,AP000745 Hs.404306 C21orf39 miscrna 1353252 NCRNA00158 non-protein coding RNA 158 11707072,10830953 54072 NR_024027,AP000220,AP001348,CH471079,AA437209,AY035382,AY035383 EAX09985,AAK60446,AAK60447,P58513 Hs.234016 C21orf42 miscrna 1346338 NCRNA00159 non-protein coding RNA 159 10830953 54070 NR_024352,AW138869,AP000263 Hs.224449 C21orf44 miscrna 1342962 NCRNA00160 non-protein coding RNA 160 10830953 54064 AP000330,NR_024351,AI761253,BF511060,BX110236 Hs.436868 C21orf52 miscrna 1345113 NCRNA00161 non-protein coding RNA 161 15489334,12477932,12036297 118421 NR_026552,NR_026553,AF165147,CH471079,AY063458,AY063459,BC101414,BC101416,BC101419,BC101420 EAX09942,EAX09943,AAL60598,AAL60599,P59043 Hs.438549 C21orf100|MGC125397|MGC125398|MGC125399|MGC125400 miscrna 1641971 NCRNA00163 non-protein coding RNA 163 16826516 727699 BC036902,BC046564,AP001505,NR_033840 Hs.397403 C21orf134|NLC1-A|NLC1A miscrna 2303829 NCRNA00164 non-protein coding RNA 164 17114284,15197164,12477932 554226 NR_027020,NR_027019,AC097532,AC098826,CH471058,BC029821,BC045801,BC057764,BC150521,BG719107,CF272540,CR747466 EAX11681,A7E2S9 Hs.380689 ANKRD30BP3|NCRNA00164 pseudo 2837599 NCRNA00165 non-protein coding RNA 165 12477932,16826516 727701 BC009635 Hs.382029 C21orf135|NLC1-B|NLC1B miscrna 2301591 NCRNA00167 non-protein coding RNA 167 14702039,12477932 440072 NR_024233,AP003041,AK055956,BC137306,BC137307 BAB71056,Q96N53 Hs.630600 C11orf37|FLJ31394|MGC168926|MGC168927 miscrna 1347708 NCRNA00168 non-protein coding RNA 168 16344560,11181995 642394 AL450386,CH471072,AF086274,DA335457,NR_033387 EAW86509,EAW86510,EAW86511,A8MUL3 Hs.568831 C10orf109|bA466B20.1 miscrna 2303315 NCRNA00169 non-protein coding RNA 169 16344560,15616553,15489334,14702039,12477932 400508 NR_026675,AC008740,AF001550,CH471228,AK123760,BC056679,DB278209 EAW66864,BAG53954 Hs.578949 FLJ41766 miscrna 1351959 NCRNA00171 non-protein coding RNA 171 1304547 12477932,11130983,9553157,19851445,20041166 1304547 80862 AL645935,AL669914,AL671277,AL671859,AL845439,AL845454,BX005091,BX088647,BX120004,BX927229,CR388205,CR759763,CR759943,CR759960,AF032109,AF032110,AF032111,AF238323,AK126001,BC034573,BC067890,NR_026751,BC112395,BX648746,CR611202 BAC86387,Q2KJ03,Q6ZU40 Hs.653168 C6orf12|HTEX4|NCRNA00171|ZNRD1-AS|ZNRD1AS miscrna 1602029 NCRNA00173 non-protein coding RNA 173 14702039,15489334,12477932 100287569 NR_027345,NR_027346,AC090670,AK124947,BC038547,BC121822,BC122872 BAC86003,Q6ZV60 Hs.441601 FLJ42957|MGC148154|MGC148155 miscrna 1603512 NCRNA00174 non-protein coding RNA 174 16344560,14702039,12477932 285908 NR_026873,AC008267,CH236961,CH471140,AA412349,AK091213,AK092625,AK124597,AW008847,BC020399,BC093655,BC093657,BQ645787,DB067709 EAX07935 Hs.50755 miscrna 1350562 NCRNA00175 non-protein coding RNA 175 15489334,14702039,12477932 378832 NR_027498,NR_028082,BX322563,CH471079,AK096071,BC111539,BC111540 EAX09345,BAC04694,AAI11540,AAI11541 Hs.517353 C21orf123|MGC129884|MGC129885|PRED80 miscrna 1603346 NCRNA00176 non-protein coding RNA 176 16344560,14702039 284739 NR_027686,NR_027687,AL355803,AK130777,AK310631,AL157500,BC033342,DA111479 BAC85427,Q6ZNR8 Hs.97840 DKFZp434G015|FLJ17673|FLJ27267|PRR17 miscrna 2311720 NCRNA00181 non-protein coding RNA 181 12477932 503538 NR_015380,AC012313,AK027222,BC006144,BC040926 Hs.709582 A1BG-AS|A1BGAS|FLJ23569|NCRNA00181 miscrna 2312697 NCRNA00182 non-protein coding RNA 182 14702039,12477932,12045143 100302692 NR_028379,AK057701,AK311345,BC016373,AC004386,AL139400,AL359740,AL627389 Hs.349570,Hs.648429 FLJ18387|Ftx miscrna 3322361 NCRNA00183 non-protein coding RNA 183 12477932,14702039,17567985 554203 AK056172,AL139400,AL353804,AL627389,AV714079,BC029480,BC071776,BP871721,CR601050,NR_024582 Hs.648316 Jpx miscrna 2312698 NCRNA00184 non-protein coding RNA 184 100302691 AJ421679,AL160408,BU950959,CK818308,NR_033927 Hs.209162 HANC miscrna 2974664 NCRNA00186 non-protein coding RNA 186 100379174 AL161800,BX417920,CR596518 Hs.407533 miscrna 1606168 NCRNA00188 non-protein coding RNA 188 16712791,17567985,16344560,15342556,15146197,12477932,10393949,8889548,17207965 125144 NR_027171,NR_027173,NR_027177,NR_027178,NR_027174,NR_027175,NR_027176,NR_027162,NR_027161,NR_027160,NR_027159,NR_027163,NR_027169,NR_027164,NR_027167,NR_027170,NR_027165,NR_027168,NR_027166,NR_027158,NR_027179,NR_027667,NR_027172,AC093484,AC127540,CH471222,AJ012499,AK098643,AK307982,AK308482,AK309961,AK311247,BC012396,BC019833,BC027986,BC040159,BP353162,BP377665,BP870476,BQ954204,BU599615,BX538291,CB150672,CD050014,CF126952,CN297624,CR590510,CR591104,CR592897,CR596839,CR596984,CR604967,CR608772,CR609832,CR616072,CR617187,CR617966,CR619468,CR622208,CR989654,DA131201,DA383448,DA485648,DA494627,DA793334,DA802938,DA857697,DA867958,DW409012 EAX04510,EAX04511,EAX04512,EAX04513,EAX04515,AAH12396,AAH19833,AAH27986,AAH40159,CAD98086,EAX04514,Q7Z306,Q8N1F1,Q8WUR1,Q96EF2,ADQ31723 Hs.368934 C17orf45|FLJ25777|MGC40157|TSAP19 miscrna 1345073 NCRNA00189 non-protein coding RNA 189 12477932,12036298 193629 NR_027072,AF124730,AF124731,AF490769,BC065252 AAM18047 Hs.720711 C21orf109 miscrna 1605188 NCRNA00200 non-protein coding RNA 200 14702039,12477932 399706 NR_015376,AL607085,CH471072,AK097673,BC133038,BC133040 EAW86512 Hs.721191 C10orf139|FLJ40354|RP11-529L18.1 miscrna 2303452 NCRNA00201 non-protein coding RNA 201 16344560,14702039,12477932 284702 NR_026778,BX323046,AA773071,AF448858,AK054764,AK095297,AL138273,BC035431,DA733532 CAI11054,AAP97733,Q5RI14,Q7Z4P1 Hs.411490,Hs.723308 C1orf199|FLJ30202 miscrna 1353902 NCRNA00202 non-protein coding RNA 202 14702039,12477932 387644 NR_026795,AL365501,AK097405,AK128027,BC038408 Hs.529965 C10orf51|FLJ40086|FLJ46146|bB27G4.1 miscrna 1348492 NCRNA00203 non-protein coding RNA 203 319085 NR_002808,AL117192,AK024887 Hs.612888 C14orf85|ITPK1-AS|ITPK1AS|NCRNA00203 miscrna 1347573 NCRNA00204 non-protein coding RNA 204 18029348 100132967 NR_027401,AF277315,AY168775 AAO11658,Q8IWN6 Hs.391764 CXorf52|SPCX miscrna 2306331 NCRNA00204B non-protein coding RNA 204B 18029348,15772651 286967 NR_027402,AF277315 A6NKX1 CXorf52|CXorf52B miscrna 2792833 NCRNA00213 non-protein coding RNA 213 14702039 100316868 AK093987,AC004080,CH236948,XR_108759,XR_110661,XR_112995,XR_114011 Hs.634354 FLJ36668 miscrna 3436177 NCRNA00224 non-protein coding RNA 224 100009613 AP003555,XR_110889,XR_111195,XR_114503,AW592641,EF419887 Hs.131238 C11orf78 miscrna 2975307 NCRNA00230A non-protein coding RNA 230A This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq] 401630 AC007241,AI670915,AK026667,BF476242,NG_004636,NR_002161 Hs.612916 FLJ23014 miscrna 2975318 NCRNA00230B non-protein coding RNA 230B This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq] 401629 AC015978,AI819212,NG_004636,NR_002160 Hs.568127 miscrna 3436499 NCRNA00255 non-protein coding RNA 255 12477932 644660 AC087350,BC031280,NR_033886 Hs.706174 C8orf81 miscrna 4110643 NCRNA00260 non-protein coding RNA 260 12477932 84719 AC114402,BC000988,CH471067,XR_040168,XR_040169,XR_040170 AAH00988,EAW91488 Hs.661178 C1orf217|MGC5457 miscrna 3207431 NCRNA00265B non-protein coding RNA 265B 100287296 AC012005 pseudo 3160484 NCRNA00265C non-protein coding RNA 265C 100287470 AC006328 pseudo 3077605 NCRNA00266B non-protein coding RNA 266B 100287785 XR_078677,XR_079106 NCRNA00266Y pseudo 3476775 NCRNA00268 non-protein coding RNA 268 12477932 441426 AK126863,AL513478,BC136786,BC136790,XR_115320 AAI36787,AAI36791 Hs.535065 NCRNA00268A miscrna 2859135 NCRNA00268B non-protein coding RNA 268B 100288610 AC134878,ABBA01008619 pseudo 3277424 NCRNA00270 non-protein coding RNA 270 100286930 AC024067 pseudo 3102874 NCRNA00270B non-protein coding RNA 270B 100287666 AC006983 pseudo 4108279 NCRNA00272 non-protein coding RNA 272 12477932,12801632,16710414 388719 AF508909,AL139344,BC140780,CH471067,NR_034131 AAI40781,EAW91124,Q5T9Y9 Hs.508989 C1orf120|MGC176457|RP1-223H12.3 miscrna 4106120 NCRNA00273 non-protein coding RNA 273 15353267 649159 AC136932,AY587847,XR_109290,XR_115621 AAS99556,Q6PQ33 Hs.532675 TOP miscrna 2837563 NCRNA00273B non-protein coding RNA 273B 100131228 AADB02037580,ABBA01031175,ABBA01031176,AC010970 pseudo 4107349 NCRNA00276 non-protein coding RNA 276 100499171 BC035112 Hs.565606 miscrna 4109838 NCRNA00281 non-protein coding RNA 281 12477932,14702039,16344560 26080 AK097777,AL356585,BC040613,DB056745,NR_027278 Hs.448583 miscrna 4110051 NCRNA00282 non-protein coding RNA 282 14702039,16344560 283521 AK094626,AK124707,AL162377,DA339105,NR_027047,NR_027048 Hs.649896 FLJ37307 miscrna 4109757 NCRNA00284 non-protein coding RNA 284 14702039 121838 AK001938,AK001941,AL646099,NR_026955 Hs.201441 miscrna 4140075 NCRNA00285 non-protein coding RNA 285 12036297 246312 AY063452,AY063453 Hs.473425 D21S2089E miscrna 4142551 NCRNA00286A non-protein coding RNA 286A 11157797 100132169 XR_109291,XR_115615,AE006462,BC032901,CR605219 AAK61209,Q96S36 Hs.498519 miscrna 4140866 NCRNA00286B non-protein coding RNA 286B 11181995 100128260 AJ271736,CH471247,XR_110938,XR_113324 EAW55887 hCG_1742852|non-protein coding RNA 286B miscrna 4143040 NCRNA00288 non-protein coding RNA 288 12477932,14702039,15489334,20237496 283165 AK097543,AP002833,BC113593,BC113597,CH471065,XR_039964,XR_039965,XR_039966 AAI13594,AAI13598,BAC05095,EAW67703,Q14CW7,Q8N7Y1 Hs.376015 FLJ40224|PRR10 miscrna 4143809 NCRNA00290 non-protein coding RNA 290 11181995 728081 AC093699,AF088005,CH471056,NR_033918 EAX04709 Hs.535735 miscrna 4144951 NCRNA00292 non-protein coding RNA 292 11943475 642946 AC104333,AY030238,AY030239,NR_027285,NR_027286 AAK51141,AAK51142,Q8TAF5 Hs.552649 LQK1 miscrna 4144905 NCRNA00293 non-protein coding RNA 293 12477932,14702039,15676287 497634 AC021451,AK097475,BC041354,NR_027012,NR_027013 Hs.406982 BEYLA miscrna 4144952 NCRNA00294 non-protein coding RNA 294 14702039 283267 AC131263,AK054565,AK091059,BC006446,BC046921,NR_015451 Hs.727625,Hs.533701 miscrna 4889172 NCRNA00295 non-protein coding RNA 295 12477932 285194 AC108687,AC108713,AW082858,AW195910,BC035185,BC104179,BC104180,BC112981,BC112982,NR_015391 Hs.120364 miscrna 2312709 NCRUPAR non-protein coding RNA, upstream of F2R/PAR1 12084570 100302746 NR_028375,AC025188 NCRNA00193|ncR-uPAR miscrna 1351739 NCSTN nicastrin This gene encodes a Type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Alternatively spliced transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq] 2302204,1358751,1580863 20929727,21123562,12297508,15274632,10993067,19394408,19187441,19105203,19077115,19028695,18667537,18201567,17192785,17123647,17081065,16938437,16423463,16303145,15975090,15711015,15591316,15567563,15489334,15322084,15249634,15210705,15189355,15157994,15146197,14664923,14642438,14602727,14593096,14572442,12917438,12857757,12821663,12815056,12763021,12754519,12740439,12736250,12692078,12679784,12660785,12644462,12643545,12603837,12477932,12471034,12419494,12198112,12130643,12054507,12048259,12044882,12032140,11992262,11943765,11726200,11483961,11396676,11295540,9039502,15257293,12021275,15322109,20880607,12787561,12843241,15721744,16630834,16641999,17986144,19684016,19729449,19840113 2302204,1358751 23385 NG_027935,NM_015331,AL445230,CH471121,AF240468,AK296153,AK299142,AK310741,AK314764,AY359120,BC047621,BC100024,CN429672,CR596089,CR605263,D87442 NP_056146,CAI15006,CAI15007,CAI15008,CAI15009,CAI15010,CAI15011,CAI15012,CAI15013,EAW52720,EAW52721,EAW52722,AAG11412,BAG58892,BAG61194,BAG37302,AAQ89478,AAH47621,BAA13383,Q5T208,Q5T209,Q92542 Hs.517249 APH2|KIAA0253|RP11-517F10.1 ATAG1874|OTTHUMP00000031840|anterior pharynx-defective 2|nicastrin protein-coding 1320890 NDC80 NDC80 homolog, kinetochore complex component (S. cerevisiae) HEC is one of several proteins involved in spindle checkpoint signaling. This surveillance mechanism assures correct segregation of chromosomes during cell division by detecting unaligned chromosomes and causing prometaphase arrest until the proper bipolar attachment of chromosomes is achieved.[supplied by OMIM] 1580863 20944740,10779342,10409732,9295362,16169070,15371340,14699129,15713649,15961401,16732327,15504738,9315664,18455984,18297113,17822787,17195848,17129782,16565220,16189514,15964272,15931389,15824131,15548592,15502821,15489334,15239953,15235793,15133482,15062103,14978040,14654001,14602875,12477932,12386167,12351790,17363900,18195732,18782526,18794333,19468067,19553660,19776357,19878654,20508983 10403 NM_006101,AP005061,AP005136,CH471113,AF017790,AK289396,AK313184,BC005239,BC010171,BC035617,CR609890,CS537821 NP_006092,EAX01696,EAX01697,AAB80726,BAF82085,BAG36001,AAH05239,AAH35617,O14777,Q05DQ6,ABM81691,ABM84854,CAM84948 Hs.414407 HEC|HEC1|KNTC2|TID3|hsNDC80 highly expressed in cancer protein|highly expressed in cancer, rich in leucine heptad repeats|hsHec1|kinetochore associated 2|kinetochore protein Hec1|kinetochore protein NDC80 homolog|kinetochore-associated protein 2|retinoblastoma-associated protein HEC protein-coding 1348797 NDE1 nudE nuclear distribution gene E homolog 1 (A. nidulans) This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 633389,1580863 17600710,19000741,18983980,18469343,18469341,18303022,18178387,17997972,17185386,16682949,16291865,15797709,15616553,15489334,15342556,15324660,14702039,12556484,12477932,12427674,11163258,14623284,11076968,12221128,12852856,16462731,19468067,20048338,20072148,20084519,7790358 633389 54820 NM_001143979,NM_017668,AC026401,AF001548,CH471226,AF124431,AK000108,AK025815,AK127927,BC001421,BC033900,BP271845,NG_021210 NP_001137451,NP_060138,EAW53931,EAW53932,EAW53933,BAA90949,AAH01421,AAH33900,Q9NXR1 Hs.655378 FLJ20101|HOM-TES-87|NUDE|NUDE1 LIS1-interacting protein NUDE1, rat homolog|OTTHUMP00000160329|nuclear distribution protein nudE homolog 1 protein-coding 1352165 NDEL1 nudE nuclear distribution gene E homolog (A. nidulans)-like 1 This gene encodes a thiol-activated peptidase that is phosphorylated in M phase of the cell cycle. Phosphorylation regulates the cell cycle-dependent distribution of this protein, with a fraction of the protein bound strongly to centrosomes in interphase and localized to mitotic spindles in early M phase. Overall, this protein plays a role in nervous system development. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 12506198,12477932,11163260,11163259,11163258,10737800,9110174,8619474,17600710,19632097,19492042,19251251,19198602,18845247,18784752,18469341,18421979,18400883,18347064,17997972,17494871,17060449,16682949,16291865,16203747,16189514,16005531,15728732,15572112,15489334,15342556,14970193,14962739,14702039,12812986,12796778,12621583,12556484,17207965,17043677,20168084,20462516,20936779,17035248,19622634,19927128,20048338,20084519 81565 AA232258,AF038203,AF182078,AF217798,AK056014,AK095179,AK123802,AK128514,AK299559,AL832648,AW795298,AY004871,BC026101,BP201698,CR600535,CR607599,DN993952,R94775,NM_001025579,NM_030808,AC026130,CH471108 AAG43425,AAF24516,BAG51605,BAG61503,CAD89957,AAF97497,AAH26101,Q9GZM8,ADQ32342,NP_001020750,NP_110435,EAW90051,EAW90052 Hs.372123 DKFZp451M0318|EOPA|MITAP1|NUDEL NUDE-like protein|endooligopeptidase A|mitosin-associated protein 1|mitosin-associated protein MITAP1|nuclear distribution protein nudE-like 1|nudE nuclear distribution gene E homolog like 1|nude nuclear distribution gene e homolog like 1 (a. nidulans)|protein Nudel protein-coding 1320732 NDFIP1 Nedd4 family interacting protein 1 The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq] 1580863 20534535,12761501,16344560,16303743,15489334,14702039,12477932,11748237,11042109,18776082,18819914,19343052,19706893,21102463,17207965 80762 AC011401,CH471062,AA496123,AB097010,AB097037,AI929639,AK075495,NM_030571,AK075524,AK124884,AK315481,AL832993,AY192728,BC004317,BX411356,DA236494,CR608893 NP_085048,EAW61888,EAW61889,BAC77363,BAC77390,BAC11652,BAC11670,BAG37865,CAH56294,AAP13460,AAH04317,Q9BT67,ADQ31857 Hs.9788,Hs.653510 MGC10924|N4WBP5 NEDD4 family-interacting protein 1|Nedd4 WW domain-binding protein 5|breast cancer-associated protein SGA-1M|putative MAPK-activating protein PM13|putative NF-kappa-B-activating protein 164|putative NFKB and MAPK-activating protein protein-coding 1320205 NDFIP2 Nedd4 family interacting protein 2 631861 12796489,12761501,19343052,15489334,15252135,15057823,14702039,12477932,12050153,10574461,8889548,18776082,20686608,20534535 631861 54602 NM_001161407,AL136442,AL355603,CH471093,AB032991,AB097019,AB097028,AB097029,AB097030,AB097031,AK001723,AK098708,AK294839,AK297197,BC021988,NM_019080,BC026126,BM976935,CR602145,DC320871 NP_061953,NP_001154879,CAH71782,CAH73355,EAW80599,BAA86479,BAC77372,BAC77381,BAC77382,BAC77383,BAC77384,BAA91863,BAG57947,BAG59684,AAH26126,Q9NV92,AAH21988 Hs.525093 FLJ25842|KIAA1165|N4WBP5A MAPK-activating protein PM04 PM05 PM06 PM07|NEDD4 WW domain-binding protein 5A|NEDD4 family-interacting protein 2|NF-kappa-B-activating protein 413|OTTHUMP00000214859|OTTHUMP00000214860|putative MAPK-activating protein PM04/PM05/PM06/PM07|putative NF-kappa-B-activating protein 413 protein-coding 1321479 NDN necdin homolog (mouse) This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq] 1601480,1580863 17353931,9630521,19386232,19058789,18660489,18272695,15978586,15489334,15247330,14593116,12913118,12716928,12477932,12414813,12198120,11959851,11813259,11439287,10965153,10915798,10347180,9422723,9354807,9302265,1394972,16169070,19517793,19626646,17207965,20538960,20665884,20029029 1601480 4692 CR618136,CR618583,CR618894,CR619220,CR619365,CR621492,CR622500,CR626299,U35139,NM_002487,NG_009380,AB007828,AC124309,AF001013,CH471151,AK129654,AK312779,BC008750,CR590044,CR590944,CR591182,CR593341,CR595233,CR595786,CR596254,CR596560,CR597888,CR598564,CR599213,CR601504,CR609284,CR609537,CR609863,CR611314,CR611976,CR614412,CR616323 AAB39469,Q99608,ADQ32637,NP_002478,BAA22660,EAW57610,BAG35642,AAH08750 Hs.50130 HsT16328|PWCR necdin protein-coding 1319419 NDNL2 necdin-like 2 This intronless gene encodes a member of the MAGE superfamily. The encoded protein is 76% identical to the mouse mage-g1 protein. [provided by RefSeq] 18086888,15635413,15489334,15302935,14702039,12477932,11782285,14593116 56160 NM_138704,AC061965,AF320911,CH471205,AF490510,AK056957,AK074138,BC035458,BC041166,BC053999,CR592061,CR592806,CR594488,CR602140,CR602205,CR603768,CR605030 NP_619649,AAG38607,EAW51515,AAM08357,BAB71325,BAB84964,AAH41166,AAH53999,Q96MG7 Hs.94011 HCA4|MAGEG1|MAGEL3|NSE3|NSMCE3 MAGE-G1 antigen|hepatocellular carcinoma-associated protein 4|hepatocellular carcinoma-associated protein HCA4|melanoma antigen, family G, 1|melanoma-associated antigen G1|necdin-like gene 2|necdin-like protein 2 protein-coding 1318271 NDOR1 NADPH dependent diflavin oxidoreductase 1 This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein is an enzyme that catalyzes the transfers electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 10625700,15900210,12631275,16140270,16344560,12871939,12871938,12477932,9373149,8125298,7569905,18029348 27158 NM_001144026,NM_014434,NM_001144028,NM_001144027,AL929554,BX255925,CH471090,AF199509,AK026089,AK074403,AK225995,AK290026,AY077845,BC015735,BC078668,BC093782,BC111943,BC143229,DA408370,DA858250 NP_001137498,NP_055249,CAI13587,NP_001137500,NP_001137499,CAH72886,CAI17259,CAM24151,EAW88366,AAF25205,BAF82715,AAL77754,AAH15735,AAH93782,AAI11944,Q9UHB4,ABM83155,ABM86355 Hs.512564 MGC138148|NR1|bA350O14.9 NADPH dependent FMN and FAD containing oxidoreductase|NADPH-dependent FMN and FAD containing oxidoreductase|NADPH-dependent FMN and FAD-containing oxidoreductase|NADPH-dependent diflavin oxidoreductase 1|Novel reductase 1 protein-coding 1343189 NDP Norrie disease (pseudoglioma) This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq] 1600222,1580863 20491809,10484772,18029348,19373682,18387409,17955262,17334993,17325173,17296899,17158104,17050281,16714476,16381901,16344560,16052165,15799735,15609522,15489336,15489334,12546446,12477932,12145535,11748312,11337749,11322656,8252044,11285060,11076863,9407136,9382152,9143918,9143917,8990009,8946107,8589700,8268931,8240113,8069314,7993212,7835440,7795608,7627181,7558002,1307245,1303264,1303256,1303235,1303236,8298646,20053900,20227630,20427659,15035989,20801516,20340138 1600222 4693 NM_000266,NG_009832,AL034370,CH471141,AK313409,BC029901,BE139596,CR594721,CR612479,DA714180,X65724,X65882 NP_000257,CAA22268,EAW59376,BAG36203,AAH29901,CAA46639,CAA46713,Q00604,CAL37470 Hs.522615 EVR2|FEVR|ND X-linked exudative vitreoretinopathy 2 protein|norrie disease protein|norrin protein-coding 1316419 NDRG1 N-myc downstream regulated 1 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. It is necessary for p53-mediated caspase activation and apoptosis. Mutation in this gene has been reported to be causative for hereditary motor and sensory neuropathy-Lom. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 20348948,17220478,9605764,18029348,19491262,19414333,19259744,19082468,19046768,19020710,18977241,18653908,18602353,18582504,18455888,18377423,17909017,17601350,17569115,17488873,17316623,17081983,17069588,16964243,16920733,16832411,16778198,16707596,16622835,16421571,16344560,16314423,16288478,15922294,15867226,15489334,15461589,15377670,15302935,15251988,15247272,14966915,14702039,12962147,12872253,12767066,12702552,12493777,12483528,12477932,12432451,12429530,12046693,11936845,11835375,11352569,11237058,11006124,10831399,10676663,10395947,9766676,9373149,9251681,8939898,8841199,8125298,15582665,16169070,15607035,20416281,20388062,20664979,17786215,19337694,19649210,19682504,19760510,19775754,19800102,19847997,20379614,20403915,20173668,20573444,21052891 10397 AK091147,AK091269,AK095649,AK096562,AK124709,AK126924,AK129867,AK130985,AK223542,AK296794,AK297342,AK298236,AK299636,AK307829,AK308117,AU141826,AY277597,BC003175,BC006260,BX648361,CR456842,CR600627,CR616328,CR620202,CR626382,D87953,DC353531,X92845,NM_001135242,NM_006096,NG_007943,AF192304,CH471060,AF004162,AF039944,AF147402,AF230380 BAG52292,BAC04597,BAG53324,BAG54074,BAG54400,BAD97262,BAH12432,BAH12556,BAH12741,AAF71305,BAH13083,AAQ18036,AAH03175,CAG33123,BAA13505,CAA63430,Q53EU7,Q597H1,Q8N959,Q92597,ABM83878,ABM87198,NP_001128714,NP_006087,EAW92164,EAW92165,EAW92166,AAC13419 Hs.372914 CAP43|CMT4D|DRG1|GC4|HMSNL|NDR1|NMSL|PROXY1|RIT42|RTP|TARG1|TDD5 DRG-1|N-myc downstream-regulated gene 1 protein|differentiation-related gene 1 protein|nickel-specific induction protein Cap43|protein NDRG1|protein regulated by oxygen-1|reducing agents and tunicamycin-responsive protein|tunicamycin-responsive protein protein-coding 732058 NDRG2 NDRG family member 2 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 16712791,18029348,11936845,19483300,19450561,19336468,19237607,19204049,18940011,18844221,18709645,18689861,18591767,18519680,18209490,17935612,17911180,17888401,17688410,17470364,17109818,17050536,16381901,16103061,15670829,15526377,15489336,15489334,15461589,15207261,15067004,14702039,14572661,12845671,12477932,11978393,11352569,11230166,11076863,10831399,10574462,15582665,11256614,18636358,19434539,19775754,20045673,20206160,20331630,20438703 57447 NM_201537,NM_016250,NM_201535,NM_201538,NM_201539,NM_201541,NM_201540,AL161668,AY028430,CH471078,AB033074,AF087872,AF159092,AF304051,NM_201536,BX647748,CB153966,CR596015,CR596981,CR597040,CR598346,CR601715,CR603144,CR607901,CR609913,CR611368,CR612684,CR620953,CR624613,CR749252,AK024521,AK057843,AK057847,AK090657,AK096214,AK096999,AK098388,AK130029,AK293514,AL136574,AW163815,BC010458,BC011240,BC013209,BC093038,BG818977,BI759006,BX247987,BX248031,BX647091 NP_963294,NP_963831,NP_057334,NP_963293,NP_963832,NP_963833,NP_963835,NP_963834,AAK50340,EAW66422,EAW66423,EAW66424,EAW66425,EAW66426,EAW66427,EAW66428,EAW66429,EAW66430,BAA86562,AAM10500,AAD43131,CAH18108,Q8TDR6,Q9UN36,CAL37549,BAG53405,BAG56997,CAB66509,AAH10458,AAH11240,AAH93038,CAD62321,CAD62350,AAL08624 Hs.525205 DKFZp781G1938|FLJ25522|KIAA1248|SYLD N-myc downstream regulator 2|NDR1-related protein NDR2|OTTHUMP00000164405|OTTHUMP00000164406|OTTHUMP00000164407|OTTHUMP00000164408|cytoplasmic protein Ndr1|n-myc downstream-regulated gene 2|protein NDRG2|syld709613 protein protein-coding 1315300 NDRG3 NDRG family member 3 1580863 11406283,11936845,18975380,17998568,14702039,12477932,11780052,11352569,10831399 57446 NM_032013,AL031662,AL132768,CH471077,AB044943,AF308609,AK023618,AK027665,AK128068,AK295420,AK295466,BC136489,NM_022477,BC144169 NP_071922,NP_114402,CAI21399,CAI21401,CAI21461,CAI21463,EAW76109,EAW76110,EAW76111,EAW76112,EAW76113,EAW76114,EAW76115,BAB20067,AAL08807,BAB14620,BAB55277,BAH12059,BAH12077,AAI36490,AAI44170,Q5TH30,Q9UGV2 Hs.437338 FLJ13556 N-myc downstream-regulated gene 3|protein NDRG3 protein-coding 1353588 NDRG4 NDRG family member 4 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 11352569,11978393,19535783,19305408,16408304,16381901,16344560,15489336,15489334,14702039,12755708,12477932,12168954,11936845,11230166,11076863,10574461,9110174,8619474,19305409,19592488,20062063,20379614 65009 AK055038,AK055148,AK124005,AK126574,AK126729,AK131248,AK296415,AK299949,AK316089,AL136584,BC001527,BC011795,CF552009,CR590492,CR601890,CR623118,CR936733,DA069318,DA242460,DB498690,NM_001130487,NM_022910,AB044947,AC009118,CH471092,AB021172,AB033006,AB044944,AB044945,AB044946,AF007138,AF308608,NM_020465 BAG51454,BAC86600,BAG54366,BAD18428,BAG59078,BAG61777,BAH14460,CAB66519,AAH11795,Q9ULP0,CAL37972,CAL38201,ACE87837,NP_065198,NP_001123959,NP_075061,BAB20071,BAB20072,BAB20073,EAW82977,EAW82978,EAW82979,BAB20288,BAA86494,BAB20068,BAB20069,BAB20070,AAL08806,ACT64364 Hs.322430 DKFZp686I1615|FLJ30586|FLJ42011|KIAA1180|MGC19632|SMAP-8 brain development-related molecule 1|protein NDRG4|smooth muscle-associated protein 8|vascular smooth muscle cell-associated protein 8 protein-coding 733822 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 1580863 9915799,19336475,15489334,14966466,12634318,12590599,12477932,11792394,10758005,10196134,9744796,9230113,7601448,19710461,19851296,19915053,20198315 3340 NM_001543,AC008472,AC011383,CH471062,AB209107,AK292448,AK293746,BC012888,BC015828,U17970,U18918,U18932,U36600 NP_001534,EAW61720,EAW61721,EAW61722,BAD92344,BAF85137,BAH11586,AAH12888,AAA67765,AAA75281,AAC27354,P52848,Q59GK2 Hs.222055 HSST|NST1 HSNST 1|N-HSST 1|N-heparan sulfate sulfotransferase 1|NDST-1|[Heparan sulfate]-glucosamine N-sulfotransferase 1|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1|glucosaminyl N-deacetylase/N-sulfotransferase 1|heparan sulfate-N-deacetylase/N-sulfotransferase protein-coding 1312297 NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq] 1580863 9601056,16343444,15489334,12876215,12477932,12045103,11865082,9915799,16385451 8509 AC022400,AF042084,CH471083,AB208870,AK293527,AK298957,AK300520,AK301251,AK303648,AK310580,BC018681,BC035711,NM_003635,BC110588,BC110589,CR625829,U36601 NP_003626,AAB97086,EAW54525,EAW54526,BAD92107,BAG57009,BAG61053,BAG62232,BAG62818,BAG64651,AAH35711,AAI10589,AAI10590,AAC27120,P52849 Hs.654758 HSST2|MGC129697|MGC129705|NST2 N-HSST 2|N-heparan sulfate sulfotransferase 2|NDST-2|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2|glucosaminyl N-deacetylase/N-sulfotransferase 2 protein-coding 1322156 NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq] 18692483,15815621,15489334,12975309,12477932,12417402,12070138,11087757,9915799,9847074,20549515,20332099,20379614 9348 NM_004784,AC096762,AC108201,AC110999,AC116639,CH471057,AF074924,AF076605,AK295439,AY358852,BC034037,BC109309,BC109310,BE348441 NP_004775,AAY41001,AAY41056,EAX06313,AAD15978,AAD46061,BAG58379,AAQ89211,AAI09310,AAI09311,O95803 Hs.480596 HSST3|MGC130028|MGC130029 GlcNAc N-deacetylase/ N-sulfotransferase 3|N-HSST 3|N-heparan sulfate sulfotransferase 3|NDST-3|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3|glucosaminyl N-deacetylase/N-sulfotransferase 3|hNDST-3 protein-coding 1315201 NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 1580863 20332099,20379614,12477932,11087757 64579 NM_022569,AC093656,AC097519,AC109821,AC110777,CH471057,AB036429,AK289670,BC012326,BC113075 NP_072091,EAX06309,BAB18535,BAF82359,AAI13076,Q2KHM8,Q9H3R1,AAI56697 Hs.591700 NHSST4 N-HSST 4|N-heparan sulfate sulfotransferase 4|NDST-4|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4|glucosaminyl N-deacetylase/N-sulfotransferase 4 protein-coding 1350497 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq] 1580863 9878551,17209039,16729965,19343046,19185523,17262856,15854127,15489334,15038604,12477932,12084895,11937507,10330338,10200266,9224902,8938439,12611891,16169070,20153825 4694 NM_004541,NG_009381,CH471161,AB451304,AB451435,BC000266,BQ680674,CR456889,U54993,X81900 NP_004532,EAW89840,BAG70118,BAG70249,AAH00266,CAG33170,AAD00084,CAA57489,O15239,Q6IBB5 Hs.534168 CI-MWFE|MWFE|ZNF183 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1|NADH oxidoreductase subunit MWFE|NADH-ubiquinone oxidoreductase MWFE subunit|NADH:ubiquinone oxidoreductase (complex 1)|complex I MWFE subunit|complex I-MWFE|type I dehydrogenase protein-coding 1351390 NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa The protein encoded by this gene belongs to the complex I 42kDA subunit family. Mammalian complex I is the first enzyme complex in the electron transport chain of mitochondria. It is composed of 45 different subunits. This protein is a component of the hydrophobic protein fraction and has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. [provided by RefSeq] 1580863 12611891,15342556,19064571,19615732,9878551,19343046,18977241,17601350,16806233,15489334,14702039,12665801,12477932,10330338,8088812,20877624 4705 AK025576,BP208667,AC013469,AC114750,CH471063,NM_004544,AB209440,AF087661,AF087854,AF453834,AK091719,AK290778,BC003417,BC031332,BI551914,CR593117,CR596275,CR596387,CR600293,CR601854,CR612037,CR615043,CR616074,CR619591,CR621636,CR624594,CR626638 NP_004535,AAY14737,AAX93150,EAW71172,EAW71173,EAW71174,EAW71175,BAD92677,AAD09755,AAP97164,AAL50984,BAF83467,AAH03417,AAH31332,O95299,Q53QE8,Q53SW4,Q59FM0,Q7Z518,Q8N1B9,Q8WXC9,ABM81937,ABM85117 Hs.277677 CI-42KD|CI-42k|FLJ21923|MGC5103 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial|NADH-ubiquinone oxidoreductase 42 kDa subunit|OTTHUMP00000201634|OTTHUMP00000201635|complex I 42kDa subunit|complex I-42kD protein-coding 1353803 NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa NDUFA11 is a component of mitochondrial complex I. Complex I catalyzes the first step in the electron transport chain, the transfer of 2 electrons from NADH to ubiquinone, coupled to the translocation of 4 protons across the membrane (Carroll et al., 2002 [PubMed 12381726]).[supplied by OMIM] 1580863 18306244,15489334,12665801,12611891,12477932,12381726,12951057 126328 BQ955016,NM_001193375,NR_034166,NM_175614,AC024592,AC104532,CH471139,CS072484,AI125604,AJ539081,AK127692,AY726561,BC069045,BI160094,BQ671956,CR602109,AI272174,AL546175,BP432135,CR603223,CR604632,BQ054257,NG_027808 NP_001180304,NP_783313,EAW69131,EAW69132,EAW69133,CAI93622,CAD62165,BAC87088,AAH69045,Q86Y39 Hs.406062 B14.7|CI-B14.7|FLJ76501 CI-B14.7|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11|NADH-ubiquinone oxidoreductase subunit B14.7|complex I B14.7 subunit|complex I-B14.7 protein-coding 1603389 NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 10830904,12857734,15489334,12477932,10931946,10409428,9827566,9373149,8125298,20877624,12611891 55967 NM_018838,AC011598,CH471054,AF112208,AF217092,AK222619,BC005936,BG943528,BM548072,BT007220,U34343 NP_061326,EAW97515,EAW97516,AAF17196,AAF91224,BAD96339,AAH05936,AAP35884,AAB03380,Q15706,Q53HG1,Q9UI09 Hs.506374 B17.2|DAP13 13 kDa differentiation-associated protein|13kDa differentiation-associated protein|CI-B17.2|CIB17.2|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12|NADH-ubiquinone oxidoreductase subunit B17.2|NADH: ubiquinone oxidoreductase|complex I B17.2 subunit|complex I-B17.2 protein-coding 4890231 NDUFA12P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1 100527945 AL355338,NG_027984 pseudo 1606289 NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 20478305,10924506,12611891,16826196,12867595,17209039,18022871,17928352,17823279,17616678,17523870,15489334,15367666,15342556,15231747,12837546,12628925,12477932,12163600,11522775,10931946,10926209,10810093,15753091,20522552,20505682,20877624,20595633,16341674,17297443,17626740,18278448,18287540,19642906 51079 NM_015965,AC011448,CH471106,AF261134,AF286697,BC000589,BC009189,BG724220,BP230223,DB450544,AK293859,BG705222,BM839920,NG_013380 NP_057049,EAW84826,AAG44670,AAG28167,AAH00589,AAH09189,Q9P0J0,BAG57254 Hs.534453 B16.6|CDA016|CGI-39|FLJ58045|FLJ59191|GRIM-19|GRIM19 CI-B16.6|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13|NADH-ubiquinone oxidoreductase B16.6 subunit|OTTHUMP00000221579|cell death regulatory protein GRIM-19|cell death-regulatory protein GRIM19|complex I B16.6 subunit|complex I-B16.6|gene associated with retinoic and IFN-induced mortality 19 protein|gene associated with retinoic and interferon-induced mortality 19 protein protein-coding 1320645 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa The NDUFA2 gene encodes one of the accessory subunits of complex I, the first and largest complex of the mitochondrial respiratory chain (Hoefs et al., 2008 [PubMed 18513682]). For a discussion of complex I, see MIM 516000.[supplied by OMIM] 1300048,1580863 9878551,17209039,18513682,15489334,15341729,12477932,11042152,9763676,9425316,18826940,8889548,20713893,12611891,20877624 4695 BC003674,CR457016,AA993683,BM706616,BQ054127,NG_021417,NM_001185012,NR_033697,Y16003,NM_002488,AB054976,AC116353,CH471062,AF047185,AF077029 AAH03674,CAG33297,O43678,NP_001171941,NP_002479,BAB21453,EAW62031,AAC04270,AAD27762 Hs.534333 B8|CD14|CIB8 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2|NADH-ubiquinone oxidoreductase B8 subunit|NADH-ubiquinone oxidoreductase subunit CI-B8|complex I B8 subunit|complex I-B8 protein-coding 1323447 NDUFA3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 1300048,1580863 12611891,17601350,15489334,12477932,11042152,9878551,19343046,18977241,20877624,21048031 4696 NM_004542,AC012314,CH471135,AF044955,AF070653,AK289489,BC011021,BC022369,BC061644,CR542143 NP_004533,EAW72179,EAW72180,EAW72181,EAW72182,EAW72183,EAW72184,AAD05420,AAD20959,BAF82178,AAH22369,AAH61644,CAG46940,O95167,Q6FGG4,ABM82286,ABM85466 Hs.198269 B9 CI-B9|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3|NADH-ubiquinone oxidoreductase B9 subunit|OTTHUMP00000194974|OTTHUMP00000197710|complex I B9 subunit|complex I-B9 protein-coding 1352480 NDUFA4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq] 1580863 12611891,9878551,16729965,15489334,12690205,12477932,9352085,20877624 4697 NM_002489,AC007029,CH236948,CH471073,AF201077,AK024837,AK130950,BC101794,BC101796,BC105295,BG623521,CR407618,CR541716,CR591059,U94586 NP_002480,EAL24297,EAW93630,EAW93631,EAW93632,AAF09253,AAI01795,AAI01797,AAI05296,CAG28546,CAG46517,AAB52726,O00483 Hs.50098 CI-9k|CI-MLRQ|FLJ27440|MGC104422|MGC126843|MGC126845|MLRQ Complex I 9kDa subunit|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4|NADH-ubiquinone oxidoreductase MLRQ subunit|complex I-MLRQ protein-coding 1348333 NDUFA4L NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 404215 1601990 NDUFA4L2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 16169070,15489334,14702039,12477932,10931946 56901 NM_020142,AC137834,CH471054,AF164796,AK094275,AK129629,BC011910,CR457176 NP_064527,EAW97002,EAW97003,AAF80760,AAH11910,CAG33457,Q9NRX3 Hs.727557 FLJ26118|NUOMS NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2|NADH-ubiquinone oxidoreductase MLRQ subunit homolog|NADH:ubiquinone oxidoreductase MLRQ subunit homolog protein-coding 1606902 NDUFA4P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1 360165 NG_002998,AC114491,AF206638 NDUFA4 pseudo 735249 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional significance in the enzyme complex. The protein localizes to the inner mitochondrial membrane as part of the 7 component-containing, water soluble "iron-sulfur protein" (IP) fraction of complex I, although its specific role is unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified on four other chromosomes. [provided by RefSeq] 737635,1580863,1300048,2302319 9878551,19343046,16189514,15489334,14702039,12853948,12477932,10343126,10330338,9847074,9763677,9048877,9021153,12611891,19064571,19615732,20379614,20825370,20877624 737635,2302319 4698 NM_005000,AC073323,AF044418,CH236947,CH471070,AK022209,AK315458,BC000813,BC020821,BC070236,BC070237,BT006695,CR605370,CR606314,CR607726,CR933664,U53468,U64028 NP_004991,AAQ96854,AAD21526,EAW83587,EAW83588,EAW83589,EAW83590,EAW83591,EAW83592,EAW83593,BAB13985,BAG37845,AAH00813,AAH20821,AAH70236,AAH70237,AAP35341,CAI45962,AAB02224,Q16718,Q5H9R2,Q9HA70,AAB37259 Hs.651219 B13|CI-13KD-B|CI-13kB|DKFZp781K1356|FLJ12147|NUFM|UQOR13 Complex I-13KD-B|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5|NADH-ubiquinone oxidoreductase 13 kDa-B subunit|OTTHUMP00000212004|OTTHUMP00000212005|complex I 13kDa subunit B|complex I subunit B13|nadh dehydrogenase (ubiquinone) 1 alpha subcomplex 5|type I dehydrogenase|ubiquinone reductase protein-coding 1350399 NDUFA5P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, pseudogene 1 737635 737635 4699 1320359 NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 1300048,1580863 12611891,9878551,12857734,17209039,19343046,18977241,17601350,15489334,15461802,12477932,10830953,10591208,9763676,9425316,9345899,16169070,20819778,20877624 4700 NM_002490,AL021878,CH471095,AF047182,AK291874,AK316562,BC002772,CR456529,CR456714,CR541997,CR620155 NP_002481,EAW60489,AAC04267,BAF84563,BAG38151,AAH02772,CAG30415,CAG32995,CAG46794,P56556,CAK54560,CAK54859,ABM83892,ABM87213 Hs.274416 B14|CI-B14|LYRM6|NADHB14 Complex I-B14|LYR motif-containing protein 6|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6|NADH-ubiquinone oxidoreductase B14 subunit|OTTHUMP00000199679|complex I B14 subunit protein-coding 1312128 NDUFA7 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa 1300048,1580863 12611891,11042152,9763676,9345899,16169070,9878551,19343046,18977241,17601350,15489334,12477932,11318610,20877624 4701 NM_005001,AC010323,AF050637,AF054178,BC003102,BC107892,CR456915,CR542266 NP_004992,AAD05427,AAC99399,AAH03102,AAI07893,CAG33196,CAG47062,O95182,Q32Q14,Q6FG42,Q6IB89 Hs.333427 B14.5a CI-B14.5a|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7|NADH-ubiquinone oxidoreductase subunit B14.5a|complex I B14.5a subunit|complex I-B14.5a protein-coding 1314815 NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa The protein encoded by this gene belongs to the complex I 19 kDA subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq] 1300048,1580863 12611891,20379614,9860297,19343046,18977241,17601350,15489334,12477932,11349233,10330338,9763677,9760212,9150947,9878551,20877624 4702 NM_014222,AL162423,CH471090,AF044953,AK314135,BC001016,BU602971,CR599006,CR615048,CR619176 NP_055037,CAH73980,EAW87511,AAD42056,BAG36825,AAH01016,P51970 Hs.495039 CI-19KD|CI-PGIV|MGC793|PGIV NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8|NADH-ubiquinone oxidoreductase 19 kDa subunit|NADH:ubiquinone oxidoreductase PGIV subunit|complex I PGIV subunit|complex I-19kD|complex I-PGIV protein-coding 1316424 NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 1300048,1580863 12611891,15965058,16023078,18287540,19064571,8486360,9878551,11112787,17353931,17209039,19027726,18977241,17601350,16806233,15489334,12477932,8012384,1832859,16712791,17207965,20877624 4704 CB110957,R44283,NM_005002,AC005832,CH471116,X76665,AF050641,AK291067,AK308588,AK310322,BC003351,BC009311,BC015837,BC111546,CR592695,CR600965,CR603933,CR606290,CR618831,CR623146,L04490 NP_004993,EAW88837,EAW88838,EAW88839,CAA54099,AAD42055,BAF83756,AAH03351,AAH09311,AAH15837,AAI11547,AAA36350,Q16795,Q9BTT5,ADQ31784 Hs.75227 CC6|CI-39k|CI39k|MGC111043|NDUFS2L|SDR22E1 CI-39kD|NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase)|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial|NADH-ubiquinone oxidoreductase 39 kDa subunit|complex I 39kDa subunit|complex I-39kD|short chain dehydrogenase/reductase family 22E, member 1 protein-coding 1349430 NDUFA9P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 10978293 266625 NG_002366,AF196991,AL079295 dJ106I20.2 pseudo 1313754 NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 1300048,1580863 12611891,9878551,10234612,19343046,19221180,18977241,18230186,17601350,17554300,15489334,12882974,12477932,10493829,9763677,1907568,20877624 4706 NM_005003,AC002400,AC008870,CH471145,AF087660,AK311877,BC058920,BI603093,CR609167,EF036490 NP_004994,AAC05814,EAW55815,EAW55816,AAD23566,BAG34818,AAH58920,ABO65076,O14561 Hs.189716 ACP|FASN2A|MGC65095|SDAP CI-SDAP|NADH-ubiquinone oxidoreductase 9.6 kDa subunit|NADH:ubiquinone oxidoreductase SDAP subunit|acyl carrier protein, mitochondrial|complex I SDAP subunit|mitochondrial acyl carrier protein protein-coding 1314685 NDUFAF1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 The NDUFAF1 gene encodes the human homolog of a Neurospora crassa Cia30 protein involved in the assembly of complex I.[supplied by OMIM] 1580863 11935339,17557076,17383918,17344420,16218961,15489334,12477932,10810093,9769214,17353931,16189514,19834535,20877624 51103 AK309889,AC087721,CH471125,AF151823,AK310033,AK310983,BC000780,CR605439,CR616483,NM_016013 NP_057097,AAH00780,EAW92487,EAW92488,EAW92489,AAD34060,Q9Y375 Hs.106529 CGI-65|CGI65|CIA30 complex I intermediate-associated protein 30, mitochondrial protein-coding 1604552 NDUFAF2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq] 17383918,16200211,15774466,15489334,12477932,20571988,19064571,19384974,20308990,20379614,20877624 91942 NM_174889,NG_008978,AC008498,AC022445,CH471123,AB183433,AF087990,AI352161,AK026051,AK291296,BC001753,BC033965,BC070357 NP_777549,EAW55008,BAD91205,BAF83985,AAH01753,AAH33965,Q8N183 Hs.591757 B17.2L|FLJ22398|MMTN|NDUFA12L|mimitin B17.2-like|Myc-induced mitochondrial protein|NDUFA12-like protein|OTTHUMP00000221703|mimitin, mitochondrial protein-coding 1601767 NDUFAF3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 9349717,19463981,15489334,15231747,12653254,12477932,11256614,8889548,20877624 25915 NM_199074,NM_199073,NM_199069,NM_199070,AC137630,CH471055,AA907148,AL049955,BC002873,BC111004,BM354128,BM559881,BM985326,BQ652614,CD358942,NG_016282 NP_951056,NP_951047,NP_951032,NP_951033,EAW64942,EAW64943,EAW64944,EAW64945,CAB43224,AAH02873,AAI11005,Q9BU61,Q9Y3Z0 Hs.31387 2P1|C3orf60|DKFZp564J0123|E3-3|MGC10527 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3|nuclear protein E3-3 protein-coding 1343021 NDUFAF4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 19463981,19352385,18179882,17909269,17001319,16344560,15489334,15342556,14871833,14574404,12477932,11042152,20877624 29078 NM_014165,AL159985,CH471051,AF060508,AF161474,AK026245,AK311850,BC018802,BC039464,BP258367,DA129473,DB253189,NG_013379 NP_054884,CAC38368,EAW48501,AAG43126,AAF29089,BAG34792,AAH39464,Q9P032,ADR82677 Hs.512144 C6orf66|HRPAP20|HSPC125|My013|bA22L21.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4|hormone-regulated proliferation-associated protein of 20 kDa|hormone-regulated proliferation-associated protein, 20 kDa protein-coding 1350721 NDUFB1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa 1580863 12611891,9878551,16189514,15489334,12477932,11042152,9763677,9653160,9425316 4707 NM_004545,AL121773,CH471061,AF050638,BC009691,BC104672,BC126232,BC126234,BM052981,BX476462,AK316557 NP_004536,EAW81476,EAW81477,EAW81478,EAW81479,AAD42054,AAH09691,AAI04673,AAI26233,AAI26235,O75438,Q3MHU6,BAG48175,ADR82802 Hs.183435 CI-MNLL|CI-SGDH|MNLL NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1|NADH-ubiquinone oxidoreductase MNLL subunit|complex I MNLL subunit|complex I-MNLL protein-coding 1321883 NDUFB10 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 1300048,1580863 9878551,14557246,18977241,17601350,16537434,15489334,15342556,12477932,11157797,11042152,9763677,12611891,20877624 4716 NM_004548,AC005363,AE006640,AF088995,CH471112,AF044954,AF067169,AF088991,AK291876,AK311744,BC005829,BC007509,BP319067 NP_004539,AAK61302,AAD16091,EAW85597,EAW85598,AAD05419,AAD32453,AAD08677,BAF84565,BAG34687,AAH05829,AAH07509,O96000,Q96II6,Q96RX5 Hs.513266 PDSW CI-PDSW|NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10|NADH ubiquinone oxidoreductase PDSW subunit (RH 16p13.3)|NADH-ubiquinone oxidoreductase PDSW subunit|complex I PDSW subunit|complex I-PDSW protein-coding 1347474 NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa NDUFB11 is a component of mitochondrial complex I. Complex I catalyzes the first step in the electron transport chain, the transfer of 2 electrons from NADH to ubiquinone, coupled to the translocation of 4 protons across the membrane (Carroll et al., 2002 [PubMed 12381726]).[supplied by OMIM] 1580863 17292333,15772651,15489334,14702039,12975309,12477932,12381726,10544803,8889548,12611891 54539 CR457239,NR_024234,NR_024235,NM_019056,NM_001135998,AL513366,CH471164,AA287166,AF044213,AF134476,AF251063,AK000501,AY359056,BC010665,BC107805,BU682304,CS488904 CAG33520,Q7Z4X2,Q9NX14,NP_061929,NP_001129470,CAI41698,CAI41699,EAW59281,EAW59282,AAL32064,AAP97253,AAK34953,BAA91208,AAQ89415,AAH10665,AAI07806,CAM55978 Hs.521969 ESSS|FLJ20494|MGC111182|NP17.3|Np15|P17.3 CI-ESSS|NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial|NADH-ubiquinone oxidoreductase ESSS subunit|complex I NP17.3 subunit|complex I-ESSS|neuronal protein 17.3 protein-coding 2289754 NDUFB11P NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene 390239 NG_009688,AP000722 NDUFB11P pseudo 2301484 NDUFB1P NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 100190952 NG_008709,AC104190,AC124916 NDUFB1P|bcm3095 pseudo 3516303 NDUFB1P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 2 100380272 AC093152,NG_016728 pseudo 1317724 NDUFB2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq] 1300048,1580863 12611891,19064571,9878551,15489334,14718445,12690205,12477932,11042152,9847074,9763677,20877624 4708 NM_004546,AC006344,CH236950,CH471070,AF050639,AF067166,BC001168,BC063026,CR542121,CR590326,CR610711 NP_004537,AAD43191,EAL24024,EAW83958,EAW83959,EAW83960,EAW83961,EAW83962,AAD05428,AAD32450,AAH63026,CAG46918,O95178,Q9Y6T4 Hs.655788 AGGG|CI-AGGG|MGC70788 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial|NADH-ubiquinone oxidoreductase AGGG subunit|OTTHUMP00000212135|OTTHUMP00000212136|complex I AGGG subunit|complex I-AGGG protein-coding 1321815 NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. See NDUFA2 (MIM 602137).[supplied by OMIM] 1300048,1580863 12611891,19773279,9878551,16341674,15489334,12477932,11474204,11161814,9425316,16169070,20877624 4709 NM_002491,AC007272,CH471063,AF035839,AF047183,BC018183,BM848639,CR456924 ABM82357,ABM85532,Q6IB80,O43676,NP_002482,AAX88972,EAW70233,EAW70234,AAC15590,AAC04268,AAH18183,CAG33205 Hs.109760 B12 CI-B12|NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3|NADH-ubiquinone oxidoreductase B12 subunit|OTTHUMP00000206487|OTTHUMP00000206488|OTTHUMP00000206489|complex I B12 subunit|complex I-B12 protein-coding 1345244 NDUFB3P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1 11474204 93993 NG_000954,AL356488 pseudo 1347557 NDUFB3P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 2 11474204 93994 NG_000955,AC009195,AL445930 pseudo 1350421 NDUFB3P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3 11474204 93996 NG_000957,AL352979 pseudo 1342871 NDUFB3P4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4 11474204 93995 NG_000956,AL135838,AL157871 pseudo 1606190 NDUFB3P5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5 12477932,11474204 93997 NG_000958,AL050308 pseudo 1316046 NDUFB4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa The protein encoded by this gene belongs to the complex I NDUFB4 subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq] 1300048,1580863 12611891,9878551,12857734,16806233,15489334,12477932,9653160,20877624 4710 CB215975,NM_001168331,AC009289,AC126182,CH471052,AF044957,BC000855,BC034579,BC070285,BC146885,BC146887,BC146927,BC146932,BF212059,BF978138,NM_004547 NP_001161803,EAW79525,AAD05421,AAH00855,AAH70285,AAI46886,AAI46888,AAI46928,AAI46933,O95168,ABM82022,ABM85199,ABM85204,NP_004538 Hs.304613 B15|CI-B15|MGC5105 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4|NADH-ubiquinone oxidoreductase B15 subunit|complex I B15 subunit|complex I-B15 protein-coding 1314222 NDUFB5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq] 1300048,1580863 12611891,18029348,19064571,17207965,20877624,16344560,9878551,19343046,19034380,18977241,17601350,15489334,14702039,12477932,9425316 4711 AW955118,CD364869,DA112751,NM_001199957,NM_001199958,NM_002492,AC090425,CH471052,AF047181,AK055159,AK313822,BC005271,BC009796,BC017909,BC093071,BG776403,BX648034,CR616403 ADQ33155,NP_001186886,NP_001186887,NP_002483,EAW78385,EAW78386,EAW78387,EAW78388,EAW78389,EAW78390,EAW78391,EAW78392,EAW78393,AAC04266,BAB70865,BAG36557,AAH05271,AAH09796,AAH17909,AAH93071,O43674,Q05D62,Q561V6,Q96NL9 Hs.518424 CI-SGDH|CISGDH|DKFZp686N02262|FLJ30597|MGC111204|MGC12314|SGDH NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial|NADH-ubiquinone oxidoreductase SGDH subunit|OTTHUMP00000212259|complex I SGDH subunit|complex I-SGDH protein-coding 1322768 NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1300048,1580863 12611891,19064571,16712791,9878551,17209039,19265027,17948130,15489334,15164053,14702039,12477932,11349233,11042152,10330338,9763677,9760212,7236204,11329013,15342556,18614564,20877624 4712 NM_182739,NM_002493,NG_011511,AL353671,CH471071,AF035840,AF067167,AK092649,AK289702,BC009801,BC016708,BC029247,BU952486,CB140469,CR456920,AW160372,BG220924,BI669356,BP208846,NM_001199987 NP_877416,NP_002484,CAH71257,CAH71258,EAW58541,EAW58542,EAW58543,AAC68838,AAD32451,BAF82391,AAH09801,AAH29247,CAG33201,O95139,Q5VYT2,NP_001186916 Hs.493668 B17|CI|MGC13675 CI-B17|NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6|NADH-ubiquinone oxidoreductase B17 subunit|NADH-ubiquinone oxidoreductase beta subunit, 6|complex I, mitochondrial respiratory chain, B17 subunit|complex I-B17 protein-coding 1318388 NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq] 1300048,1580863 12611891,9878551,19343046,18977241,17601350,15489334,12477932,10931946,10830904,10330338,9763677,2302251,20877624,16712791 4713 NM_004146,AC010527,CH471106,Y15998,AF112200,AF217091,BC002595,BU565399,CR450354,CR610926,M33374,CB124371 NP_004137,EAW84436,AAF17188,AAF91223,AAH02595,CAG29350,AAA35675,P17568,ABM82825,ABM86011 Hs.532853 B18|CI-B18|MGC2480 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7|NADH-ubiquinone oxidoreductase B18 subunit|cell adhesion protein SQM1|complex I B18 subunit|complex I-B18 protein-coding 1319298 NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa 1300048,1580863 12611891,18029348,19064571,9878551,11256614,18977241,17727244,17601350,16806233,15489334,15164054,12477932,11230166,11042152,10570959,9763676,9345899,8889548,16169070 4714 AF044958,AF077028,AF115968,AK289579,AL080056,BC000466,BC019276,CF127298,CR533490,CR592473,Y18944,NM_005004,AL133352,CH471066 AAD05422,AAD27761,AAP97239,BAF82268,CAB45691,AAH00466,CAB46274,AAH19276,CAG38521,O95169,Q5W145,ABM84212,ABM87617,ACE87239,ACE86557,NP_004995,CAH73562,CAH73563,CAH73564,EAW49819,EAW49820 Hs.523215 ASHI|CI-ASHI NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial|NADH-ubiquinone oxidoreductase ASHI subunit|NADH:ubiquinone oxidoreductase ASHI subunit|OTTHUMP00000020836|complex I ASHI subunit|complex I-ASHI protein-coding 1343797 NDUFB8P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 9847074 326606 NG_002595,AC005225 pseudo 2289736 NDUFB8P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 2 729565 NG_007663,AC004686 pseudo 2293159 NDUFB8P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3 100132286 NG_007868,AC087783 pseudo 1316117 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 1300048,1580863 12611891,19064571,8661098,18977241,17601350,16189514,16169070,15489334,12477932,11042152,10944468,10737800,10077726,9763677,9878551,20471030,20877624 4715 NM_005005,AC090198,CH471060,AF044956,AF067168,AF261090,AI907018,AK026538,AK313432,AL136714,BC007672,BQ685604,CR597894,CR598184,CR619949,S82655 NP_004996,EAW92068,AAD42057,AAD32452,AAF99683,BAG36223,CAI46222,AAH07672,AAB46797,Q5JVG7,Q9UQS5,Q9Y6M9 Hs.15977 B22|DKFZp566O173|FLJ22885|LYRM3|UQOR22 CI-B22|LYR motif-containing protein 3|NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9|NADH-ubiquinone oxidoreductase B22 subunit|complex I B22 subunit|complex I-B22 protein-coding 1353150 NDUFC1 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa 1580863 15146197,16341674,8889548,9878551,15489334,14702039,12477932,11042152,9763677,9653160,9425316,16712791 4717 BG701467,BM768825,BU677336,CA313899,CB047240,CB160001,CN347371,CX163301,NM_001184986,NM_001184987,NM_001184988,NM_001184989,NM_001184990,NM_001184991,W56292,NM_002494,AC024032,AC097376,CH471056,Y16002,AF047184,AF047435,AK023115,AK291147,BC101798,BC107682,BC112061,CR457005 NP_001171915,NP_001171916,NP_001171917,NP_001171918,NP_001171919,NP_001171920,NP_002485,AAY40949,EAX05121,AAC04269,AAC39886,BAF83836,AAI01799,AAI07683,AAI12062,CAG33286,O43677,Q4W5J3,Q6IAZ9 Hs.84549 KFYI|MGC117464|MGC126847|MGC138266 CI-KFYI|NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial|NADH-ubiquinone oxidoreductase KFYI subunit|OTTHUMP00000164544|OTTHUMP00000164545|OTTHUMP00000220054|OTTHUMP00000220055|complex I KFYI subunit|complex I-KFYI protein-coding 1316748 NDUFC2 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa 1580863 12611891,19064571,19834535,11042152,9878551,11256614,18977241,17601350,16381901,15489336,15489334,14702039,12477932,12045112,11230166,11076863,19913121,20628086,20877624 4718 NM_004549,AP003032,CH471076,AF070652,AF087659,AF087899,AF369951,AF369952,AK022785,AK023013,AK098173,AL050278,BC007323,BX281908,CR533448,CR624128 NP_004540,EAW75046,EAW75047,AAD20958,AAD09754,AAP97198,AAM21294,AAM21295,CAB43379,AAH07323,CAG38479,O95298,Q549M5,Q8NI46,CAL37591 Hs.407860 B14.5b|NADHDH2 CI-B14.5b|HLC-1|NADH dehydrogenase [ubiquinone] 1 subunit C2|NADH-ubiquinone oxidoreductase subunit B14.5b|complex I subunit B14.5b|complex I-B14.5b|human lung cancer oncogene 1 protein protein-coding 1350002 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. [provided by RefSeq] 1556706,1580863 12611891,19064571,19615732,19836344,15824269,16478720,16870178,9878551,1935949,15186778,19405953,19343046,18977241,17601350,15815621,15489334,12477932,11349233,6439716,1505218,20843780,8889549,20382551,20877624 1556706 4719 NM_005006,NG_009248,AC007383,CH471063,AK098395,AK295705,AK295966,AK295987,AK298320,AK300585,BC004133,BC012068,BC018900,BC022368,BC030833,BQ882763,X61100,HQ205706,HQ205707,HQ205708,HQ205709,HQ205710,HQ205711,HQ205712,HQ205713,HQ205714,HQ205715,HQ205716,HQ205717,HQ205718,HQ205719,HQ205720,HQ205721,HQ205722,HQ205723,HQ205724,HQ205725,HQ205726,HQ205727,HQ205728,HQ205729,HQ205730,HQ205731,HQ205732,HQ205733,HQ205734,HQ205735,HQ205736,HQ205737,HQ205738,HQ205739,HQ205740,HQ205741,HQ205742,HQ205743,HQ205744,HQ205745,DC413278,NM_001199981,NM_001199982,NM_001199983,NM_001199984,AA150435,AW074155,CA419316 NP_004997,AAY15061,EAW70379,EAW70380,BAG58551,BAG58743,BAG58762,BAG60573,BAG62283,AAH12068,AAH22368,AAH30833,CAA43412,P28331,Q9P1A0,ADP91534,ADP91535,ADP91536,ADP91537,ADP91538,ADP91539,ADP91540,ADP91541,ADP91542,ADP91543,ADP91544,ADP91545,ADP91546,ADP91547,ADP91548,ADP91549,ADP91550,ADP91551,ADP91552,ADP91553,ADP91554,ADP91555,ADP91556,ADP91557,ADP91558,ADP91559,ADP91560,ADP91561,ADP91562,ADP91563,ADP91564,ADP91565,ADP91566,ADP91567,ADP91568,ADP91569,ADP91570,ADP91571,ADP91572,ADP91573,NP_001186910,NP_001186911,NP_001186912,NP_001186913 Hs.471207,Hs.598436 CI-75Kd|CI-75k|MGC26839|PRO1304 NADH-coenzyme Q reductase|NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial|OTTHUMP00000206341|OTTHUMP00000206342|OTTHUMP00000206343|OTTHUMP00000206344|complex I 75kDa subunit|complex I, mitochondrial respiratory chain, 75-kD subunit|complex I-75kD|mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit protein-coding 1316107 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) Mitochondrial complex I (NADH-ubiquinone reductase; EC 1.6.5.3) is the first multimeric complex of the respiratory chain that catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mammalian mitochondrial complex I is an assembly of at least 43 different subunits. Seven of the subunits are encoded by the mitochondrial genome; the remainder are the products of nuclear genes. The iron-sulfur protein (IP) fraction of complex I is made up of 7 subunits, including NDUFS2. See NDUFS1 (MIM 157655).[supplied by OMIM] 1300048,1600573,1580863 19064571,19423540,19615732,20237496,20406964,20438785,8889548,20819849,9647766,9878551,14749350,19463981,12857734,17209039,11112787,9585441,18977241,18682780,17601350,16806233,15489334,15250827,12477932,11220739,9373149,8125298,1832859,12611891,19913121,20628086,20877624 1600573 4720 CA312786,NG_013352,NM_001166159,AF183172,AF183173,AL590714,CH471121,AF013160,AF050640,AK222618,NM_004550,AK301641,AK309871,AK314807,AK315977,BC000170,BC001456,BC008868,CR591073,CR591892,CR593827,CR597109,CR600984,CR601041,CR604019,CR608533,CR612031,CR612832,CR615690,CR618127,CR618225,CR622380,CR626141,CR626795 NP_001159631,NP_004541,AAG13809,AAG13808,CAH72148,EAW52625,EAW52626,AAC27453,AAC34362,BAD96338,BAH13528,BAH14348,AAH00170,AAH01456,AAH08868,O75306,Q53HG2,Q9HC11,Q9HC12,ABM85013 Hs.173611 CI-49 CI-49kD|NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial|NADH-ubiquinone oxidoreductase 49 kDa subunit|NADH-ubiquinone oxidoreductase NDUFS2 subunit|complex 1, mitochondrial respiratory chain, 49-KD subunit|complex I 49kDa subunit|complex I-49kD protein-coding 1319736 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency. 1300048,1580863 12611891,19463981,10931946,15250827,14729820,12477932,11771736,10967146,9647766,9878551,11112787,16826196,18485875,17209039,19343046,19034380,18977241,17601350,16344560,15489334,9763677,9373149,8125298,1602151,20935630,20877624 4722 NM_004551,NG_011946,AC104942,AF200954,CH471064,AA477836,AF067139,AF100743,AK223255,AK294167,AK313802,AL135819,BC000617,CR594360,CR600660,CR611803,CR614929,DA893277 O75489,Q53FM7,Q9UF24,ABM82860,ABM86047,NP_004542,AAG17541,EAW67895,EAW67896,EAW67897,AAC27451,AAD40386,BAD96975,BAG57489,BAG36538,CAB63881,AAH00617 Hs.502528 CI-30 CI-30kD|NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial|NADH dehydrogenase-ubiquinone 30 kDa subunit|NADH-ubiquinone oxidoreductase 30 kDa subunit|complex I 30kDa subunit|complex I-30kD protein-coding 1342584 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear genes. [provided by RefSeq] 1580863 16478720,15038602,16870178,14765537,11165261,11181577,9463323,9878551,11112787,19343046,18977241,18555024,18291624,17601350,17438127,16094384,15975579,15489334,12944388,12616398,12477932,12206907,12084824,11940698,11860175,9763677,1900194,17207965,20877624,12611891,18029348,19064571,19364667 4724 NM_002495,NG_008200,AC008901,AC024569,CH471123,AF020351,AI001139,AK307973,BC005270,BU954271,DB489661 NP_002486,EAW54884,AAB87865,AAH05270,O43181,ADQ32498 Hs.528222 AQDQ|CI-18 CI-18 kDa|CI-AQDQ|NADH dehydrogenase (ubiquinone) iron-sulfur protein 4|NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial|NADH-coenzyme Q reductase, 18-KD|NADH-ubiquinone oxidoreductase 18 kDa subunit|OTTHUMP00000221839|complex I 18kDa subunit|complex I-18 kDa|complex I-AQDQ|mitochondrial respiratory chain complex I (18-KD subunit) protein-coding 1322348 NDUFS5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) 1298632,1300048,1580863 17601350,15489334,12477932,11042152,9763677,9653160,12611891,15607211,1906457,19064571,19426391,8125298,9373149,9878551,10070614,11112787,16826196,20877624 1298632 4725 AI244607,NM_001184979,AL606465,CH471059,AF020352,AF047434,AF086268,AK312188,BC001884,BC093057,CR456904,NM_004552 NP_001171908,CAI16711,EAX07286,EAX07287,AAB87866,AAC39878,BAG35121,AAH01884,AAH93057,CAG33185,O43920,Q6IBA0,NP_004543 Hs.632385 CI-15k|CI15K CI-15 kDa|NADH dehydrogenase [ubiquinone] iron-sulfur protein 5|NADH-ubiquinone oxidoreductase 15 kDa subunit|NADH:ubiquinone oxidoreductase 15 kDa IP subunit|complex I-15 kDa protein-coding 732792 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. The iron-sulfur protein (IP) fraction is made up of 7 subunits, including NDUFS6. See NDUFS1 (MIM 157655).[supplied by OMIM] 1580863,1300048,2302384,2302364 12611891,19064571,9647766,9878551,15372108,19343046,19034380,18977241,17601350,17438127,16341674,15489334,15146197,14702039,12477932,9763677,16169070,20877624 2302384 4726 BE900424,NG_013354,NM_004553,AC026443,CH471102,AF044959,AK022503,BC038664,BC046155,BG706812,BM172493,BM759028,BM764340,CN285188,CR456880 NP_004544,EAX08142,EAX08143,AAC27799,BAG51079,AAH38664,AAH46155,CAG33161,O75380,Q6IBC4,ADR82670 Hs.408257 CI-13kA|CI-13kD-A|CI13KDA NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial|NADH-ubiquinone oxidoreductase 13 kDa-A subunit|NADH:ubiquinone oxidoreductase NDUFS6 subunit|OTTHUMP00000220491|complex I 13kDa subunit A|complex I, mitochondrial respiratory chain, 13-kD subunit|nadh dehydrogenase (ubiquinone) fe-s protein 6 protein-coding 1320669 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq] 1580863 9878551,14749350,8938450,15186778,11112787,18977241,18435906,17604671,17601350,17275378,15317750,15269216,14702039,12477932,11418099,10360771,10330338,9373149,8125298,16169070,12611891,20877624 374291 BC111517,BX099945,CR606524,CR615407,DC340464,NM_024407,NG_008283,AC005329,CH471139,AF060512,AF115969,AK056061,AK091024,AK091046,AK091623,AK092169,AK127759,AK128713,AK222738,AK289671,AK293917,BC001715,BC005954 AAI11518,O75251,Q6ZQU6,Q6ZS38,Q7LD69,Q8NAS7,Q9H3K5,AAH05954,NP_077718,AAC27669,EAW69507,EAW69508,AAG43130,AAP97240,BAG52394,BAC03820,BAC87117,BAC87587,BAD96458,BAF82360,BAH11627,AAH01715 Hs.211914 CI-20|CI-20KD|FLJ45860|FLJ46880|MGC120002|MY017|PSST NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial|NADH-coenzyme Q reductase|NADH-ubiquinone oxidoreductase 20 kDa subunit|NADH:ubiquinone oxidoreductase PSST subunit|PSST subunit|complex I 20kDa subunit|complex I, mitochondrial respiratory chain, 20-KD subunit|complex I-20kD protein-coding 1319779 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 1300048,1580863 12611891,18029348,20379614,9837812,9878551,14749350,15159508,9666055,11112787,12857734,19343046,18977241,17601350,15489334,15250827,14702039,12477932,11955626,9373149,9345899,9116042,8125298,20877624 4728 NG_017040,NM_002496,AF038406,AP002807,CH471076,AK002110,AK223114,AK302449,AK314546,BC119753,BC119754,CR612937,DB498707,U65579 NP_002487,AAC34273,EAW74685,EAW74686,EAW74687,EAW74688,BAD96834,BAG63745,BAG37133,AAI19754,AAI19755,AAB51776,O00217,Q08E91,Q53G17 Hs.90443 CI-23k|CI23KD|TYKY NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial|NADH-ubiquinone oxidoreductase 23 kDa subunit|complex I 23kDa subunit|complex I-23kD protein-coding 1350455 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.[supplied by OMIM] 1580863 12611891,15342556,17786189,20153825,10931946,10080174,9892733,9571201,9373149,8125298,1478657,8288251,9878551,11112787,19343046,18977241,17601350,16189514,15489334,14702039,12477932,11349233,11337467,11138011,20877624,20843780 4723 BP254989,NG_013353,NM_001166102,NM_007103,AF053069,AP003385,CH471076,S52526,Y17379,Y17383,AF053070,AF092131,AK055875,AK223061,AK293522,AK300726,AK310537,AK316122,AU099299,BC007619,BC008146,BC015645,CR456739,CR590574,CR591738,CR592325,CR597105,CR598406,CR602917,CR603047,CR603191,CR605142,CR605161,CR605492,CR610780,CR611542,CR613110,CR614732,CR616458,CR617636,CR619239,CR620324,CR620772,CR624895,DB532599,S67973,FB580533,HQ205266,HQ205267,HQ205268,HQ205269,HQ205270,HQ205271,HQ205272,HQ205273,HQ205274,HQ205275,HQ205276,HQ205277,HQ205278,HQ205279,HQ205280,HQ205281,HQ205282,HQ205283,HQ205284,HQ205285,HQ205286,HQ205287,HQ205288,HQ205289,HQ205290,HQ205291,HQ205292,HQ205293,HQ205294,HQ205295,HQ205296,HQ205297,HQ205298,HQ205299,HQ205300,HQ205301,HQ205302,HQ205303,HQ205304,HQ205305 NP_001159574,NP_009034,AAC39750,EAW74652,EAW74653,EAW74654,EAW74655,EAW74656,AAB24883,CAA76757,AAC39722,AAD40373,BAD96781,BAG57004,BAG62399,BAH14493,AAH07619,AAH08146,AAH15645,CAG33020,AAB29698,P49821,Q53G70,Q96ID4,ABM84162,ABM87565,CAR98247,ADP90734,ADP90735,ADP90736,ADP90737,ADP90738,ADP90739,ADP90740,ADP90741,ADP90742,ADP90743,ADP90744,ADP90745,ADP90746,ADP90747,ADP90748,ADP90749,ADP90750,ADP90751,ADP90752,ADP90753,ADP90754,ADP90755,ADP90756,ADP90757,ADP90758,ADP90759,ADP90760,ADP90761,ADP90762,ADP90763,ADP90764,ADP90765,ADP90766,ADP90767,ADP90768,ADP90769,ADP90770,ADP90771,ADP90772,ADP90773 Hs.7744 CI-51K|CI51KD|FLJ59059|UQOR1 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial|NADH-ubiquinone oxidoreductase 51 kDa subunit|complex I 51kDa subunit|complex I, mitochondrial respiratory chain|mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1 protein-coding 734286 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 1300048,2302386,1580863 12754703,9570948,9878551,7488192,19343046,19328558,19194776,19165527,19135101,19034380,18977241,18199248,17601350,16784756,16508936,16169070,15489334,15450783,12815743,12477932,12391372,9763677,7607668,2500970,12611891,17786189,19064571,16712791,20877624,20971673,20978456,19913121,20628086 2302386 4729 AP005263,AP005899,CH471113,D64176,D88548,X84421,AF147367,AK291865,AK312129,BC001632,BC017487,BC071689,CB121843,CR456928,CR594679,CR595344,CR618099,M22538,NM_021074,AW051350,BG742948,NG_013355 NP_066552,EAX01612,BAA11028,BAA25988,BAF84554,BAG35065,AAH01632,AAH17487,AAH71689,CAG33209,AAA75390,P19404,Q6IB76,Q6IPW4,Q6LEN9,Q9UEH5,ABM83519,ABM86739 Hs.464572 CI-24k 24-kda subunit of mitochondrial nadh dehydrogenase|NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial|NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial|NADH-ubiquinone oxidoreductase 24 kDa subunit|NADH-ubiquinone oxidoreductase flavoprotein 2|OTTHUMP00000165822|complex I 24kDa subunit|complex I, mitochondrial respitory chain, 24 kD subunit|nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit protein-coding 1346097 NDUFV2P1 NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1 7607668 4730 NG_001161,AC092070,X84682 pseudo 1343620 NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9878551,19343046,18977241,17601350,16849371,15489334,14702039,12600270,12477932,10950923,10830953,10508479,9344673,8889548,8443212,16169070,12611891,18029348,19064571,20877624 4731 NM_001001503,AB038163,AP001629,CH471079,X99726,X99727,X99728,AK056041,AK289586,AK308228,AY173949,BC021217,BC033766,BC054016,BF311986,BI829092,BU629860,CF123536,CR542174,CR542190,CR593887,CR607646,CR613268,CR616335,NM_021075,XM_003119831,XM_003119832 NP_066553,NP_001001503,BAB13732,EAX09523,EAX09524,EAX09525,EAX09526,CAB56704,BAB71080,BAF82275,AAO49719,AAH21217,AAH33766,AAH54016,CAG46971,CAG46987,Q2VYF0,Q96DP0,ABM83644,ABM86893,P56181,XP_003119879,XP_003119880 Hs.473937 CI-10k|CI-9KD NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial|NADH-ubiquinone oxidoreductase 9 kD subunit|NADH-ubiquinone oxidoreductase 9 kDa subunit|NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD|complex I 10kDa subunit|complex I, mitochondrial respiratory chain, 10-kD subunit|complex I-9kD|mitochondrial NADH oxidoreductase-like protein|renal carcinoma antigen NY-REN-4 protein-coding 2300351 NEAT1 nuclear paraspeckle assembly transcript 1 (non-protein coding) 19217333,17270048,12565840,11458881,9858482,9253601,19716791 283131 AP000769,AP000944,AF001892,AF001893,AF080092,AF508303,AK027191,CR611820,CR618687,EF177379,U60873,AI590745,NR_028272 Hs.523789 NCRNA00084|TncRNA miscrna 1322432 NEB nebulin This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-,and developmental stage-specific. The 6,669-residue predicted protein, the short form, contains 185 copies of 35-amino acid modules that can be classified into 7 types. It is suggested that alternative splicing may explain the developmental or tissue-specific size variants of nebulin. However, the nucleotide sequence information is not available for other spliced products. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq] 1580863 12837582,15266303,16902413,20936779,15967462,7739042,9501083,19232495,18639526,17275809,16917880,15342556,15221447,15048123,14702039,12482578,12477932,12207937,12064939,11994971,11882289,11851340,11425319,11309420,11016930,10051637,9514727,9359044,9284930,8816284,8626778,8580725,3397062,2838409,2037050,1682316,19944167,20498015,19913121,20628086 4703 NM_001164507,NM_001164508,AC116650,AF117675,CH471058,AK021567,AK056994,AK093855,AK096887,AK096903,AK129532,AK300079,AK300674,AK300722,AK307607,BC012533,BC022421,BC029384,BC050436,BC056251,BC063136,BC105590,BP232190,BP233123,BX283647,BX648963,M19669,U35636,U35637,X58122,X83957,NM_004543,NG_009382,AC009497,AC107052 NP_001157979,NP_001157980,Q14215,Q14918,Q6P516,Q6PJ54,Q7Z2R0,Q86TG3,Q96MF8,Q9Y5Z1,AAY14977,AAD20347,EAX11499,EAX11500,EAX11501,EAX11502,EAX11503,EAX11504,EAX11505,EAX11506,BAB71337,BAG53391,BAH13205,BAH13324,BAH13335,AAH22421,AAH29384,AAH50436,AAH56251,AAH63136,AAI05591,AAA59917,AAB02621,AAB02622,CAA41124,CAA58788,P20929,Q05C45,Q14214,NP_004534,AAY14651 Hs.588655 DKFZp686C1456|FLJ11505|FLJ36536|FLJ39568|FLJ39584|NEB177D|NEM2 OTTHUMP00000204401|nebulin protein-coding 1318016 NEBL nebulette 1581084 19913121,20628086,15004028,9733644,18823973,17987659,15489334,15164054,14702039,12504851,12477932,11822876,11309420,11140941,10470015,8889548,8581976,20951326,12883659,16385451,17177073,17213182,18419822,18677772 1581084 10529 AB209311,NM_006393,NM_213569,AL157398,AL158160,AL359175,AL731547,CH471072,EF445000,AJ580772,AK096540,AK294926,AK295186,BC110452,BC110453,BC126132,BC126134,BC144201,BI522541,BM973051,CR616315,CR744526,Y16241,Y17673,AK316521,DT220372,NG_017092,NM_001173484 NP_006384,NP_998734,CAC19642,CAI41189,CAI41193,CAI41194,CAH71371,CAI15775,EAW86175,ACA06021,ACA06022,ACA06023,ACA06024,ACA06025,ACA06026,BAD92548,CAE45323,BAC04812,BAG58008,BAG58190,AAI10453,AAI10454,AAI26133,AAI26135,CAA76130,CAA76810,O76041,Q2TBD1,Q59FZ8,Q5JUU8,Q70I54,Q8N8M3,BAH14892,NP_001166955 Hs.5025 FLJ53769|LASP2|LNEBL|MGC119746|MGC119747|bA56H7.1 LIM-nebulette|actin-binding Z-disk protein|nebulette protein-coding 1342968 NECAB1 N-terminal EF-hand calcium binding protein 1 17364817,15489334,14702039,12477932,12044471 64168 NM_022351,AC093329,AC103770,CH471060,AF193756,AF414126,AK095533,AK098356,AY224210,BC016340,BC068448,DB481874 NP_071746,EAW91669,EAW91670,AAG28412,AAP33146,BAC04568,AAO34126,AAH16340,AAH68448,Q8N987 Hs.642655 EFCBP1|STIP-1 EF hand calcium binding protein 1|EF-hand calcium binding protein 1|EF-hand calcium-binding protein 1|N-terminal EF-hand calcium-binding protein 1|ef hand calcium binding protein 1|neuronal calcium binding protein|neuronal calcium-binding protein 1|synaptotagmin interacting protein 1 protein-coding 1345623 NECAB2 N-terminal EF-hand calcium binding protein 2 633497,1580863 17689978,18519826,16713569,16189514,15489334,14702039,12477932,12044471,11641222,9110174,8619474,19694902,20379614 633497 54550 NM_019065,AC040169,CH471114,AF070637,AF193758,AK127376,AY299331,BC016979,BC131615 NP_061938,EAW95508,EAW95509,EAW95510,AAC25392,AAG28414,BAC86948,AAP57260,AAI31616,Q7Z6G3 Hs.140950 EFCBP2 EF hand calcium binding protein 2|EF-hand calcium binding protein 2|EF-hand calcium-binding protein 2|N-terminal EF-hand calcium-binding protein 2|neuronal calcium binding 2|neuronal calcium-binding protein 2|stip-2|synaptotagmin-interacting protein 2 protein-coding 1320847 NECAB3 N-terminal EF-hand calcium binding protein 3 The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10833507,12780348,19035353,15489334,14702039,14697346,12477932,12044471,11780052,10715114,9776767,20237496,20098747,21048031 63941 NM_031231,AL121906,CH471077,AB039947,AF193759,AF409141,AK023706,AK124388,AK291895,AK309285,AL519842,BC023270,BC047673,BQ212085,BQ431858,NM_031232,CD580591,CR603836,CR610365,CR614917,CR617645,CR624229,CR626345 NP_112509,NP_112508,CAI22127,CAI22128,CAI22129,EAW76301,EAW76302,EAW76303,EAW76304,EAW76305,EAW76306,EAW76307,EAW76308,BAB16413,AAG28415,AAL01118,BAB14649,BAF84584,AAH47673,Q96P71 Hs.516986 APBA2BP|EFCBP3|NIP1|STIP3|SYTIP2|XB51|dJ63M2.4|dJ63M2.5 EF-hand calcium binding protein 3|N-terminal EF-hand calcium-binding protein 3|Nek2-interacting protein 1|OTTHUMP00000030660|X11L-binding protein 51|amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein|amyloid beta A4 protein-binding family A member 2-binding protein|neuronal calcium-binding protein 3|neuronal calcium-binding protein NECAB3|synaptotagmin interacting protein 2|synaptotagmin interacting protein STIP3 protein-coding 1603669 NECAP1 NECAP endocytosis associated 1 16344560,15494011,15489334,14702039,14555962,12477932,14665628,20237496 25977 NR_024260,AC006511,CH471116,CQ782887,CQ784000,AI688397,AK074858,AK074880,AK074923,AK075013,AK094805,AK290537,AK303675,NM_015509,AK314424,AL050272,BC002888,BC067367,BC084551,BC110876,CR622227,DA496321 NP_056324,EAW88636,EAW88637,EAW88638,EAW88639,CAF86114,CAF86963,BAC11250,BAC11264,BAC11296,BAC11352,BAF83226,BAG64672,CAB43373,AAH02888,AAH67367,AAH84551,AAI10877,Q8NC96 Hs.555927 DKFZP566B183|MGC131900 NECAP endocytosis-associated protein 1|NECAP-1|adaptin ear-binding coat-associated protein 1|adaptin-ear-binding coat-associated protein 1 protein-coding 1603996 NECAP2 NECAP endocytosis associated 2 This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq] 11256614,16710414,16381901,16341674,16189514,15489336,15489334,14702039,14555962,12477932,11214971,11076863,9373149,8889548,8125298,14665628 55707 NM_001145277,NM_001145278,AL137802,AL669962,CH471167,AK001282,AK021938,AK023545,AK024468,AK223344,AK300764,AK302227,BC017014,NM_018090,BC018914,BM751287,BQ005870,BU676615,CR592202,CR602402,CR606897,CR608405,CR616300,CR617164,CR618586,CR620287,CR622734,CR624001 NP_060560,NP_001138749,NP_001138750,CAI22843,CAH71454,EAW51780,EAW51781,EAW51782,EAW51783,EAW51784,BAA91598,BAB14605,BAB15758,BAD97064,BAG62429,BAG63581,AAH17014,AAH18914,Q53FE5,Q9NVZ3,CAL38220 Hs.437385 FLJ10420 NECAP endocytosis-associated protein 2|NECAP-2|OTTHUMP00000221695|OTTHUMP00000221697|OTTHUMP00000221698|adaptin ear-binding coat-associated protein 2|adaptin-ear-binding coat-associated protein 2 protein-coding 1317123 NEDD1 neural precursor cell expressed, developmentally down-regulated 1 19243593,19029337,16461362,16378099,16344560,16051665,15489334,14702039,12477932,7814034,11076968,11956313,12221128,12852856,16462731,19509060,19710015,7790358,8838651,20224777 121441 NM_152905,NM_001135175,NM_001135176,NM_001135177,AC007564,AC013417,CH471054,AA236927,AK093221,AK290058,AK303656,AK315821,AL832466,AL832468,BC020799,BC026168,BC027605,DB074571 NP_690869,NP_001128647,NP_001128648,NP_001128649,EAW97577,EAW97578,EAW97579,EAW97580,BAC04099,BAF82747,BAG64657,BAF98712,AAH20799,AAH27605,Q05CT8,Q8NHV4,ABM82532,ABM85725 Hs.270084 FLJ35902|GCP-WD|TUBGCP7 NEDD-1|neural precursor cell expressed developmentally down-regulated protein 1|protein NEDD1 protein-coding 1343378 NEDD10 neural precursor cell expressed, developmentally down-regulated 10 4740 736612 NEDD4 neural precursor cell expressed, developmentally down-regulated 4 1580863,2302550 19345329,15496141,20819705,20855896,16169070,19252184,19602703,19670909,19812267,19835589,19864419,19953087,20062064,20078934,20086093,20172859,20332230,20519395,17996703,18544533,11342538,12907594,9990509,8649367,10642508,15126635,17218261,17218260,14973438,17116753,9405440,19366705,19125695,19054764,19024597,18804462,18772139,18723765,18703514,18353951,18307411,18305167,18287095,18174164,17719543,17544362,16885233,16867982,16572171,15703212,15548568,15252135,15217910,15060076,14645220,14581525,12907674,12796489,12697834,12610113,12477932,12230472,12218189,12050153,11991975,11919637,11748237,11717310,11696533,11598133,11359767,11112487,11087860,11087859,11042109,10871286,10446181,10212229,10037602,9593687,9525617,9351815,9305852,9182527,9073511,7788527,15013426,18498246,18498243,18577513,18632619,19158374,12729930,12167593,11244092,15678106,11046148,20559325,20562859,20530479,20711176 2302550 4734 NM_006154,NM_198400,AC009997,AC039057,CH471082,AK304394,AK307541,AL832063,AL832359,AL833293,AL833300,AY550969,BC035707,BC047035,BC136605,BC144284,BC144285,BC152452,BC152562,D42055 NP_006145,NP_940682,EAW77495,EAW77496,EAW77497,BAG65229,AAT52215,AAI36606,AAI44285,AAI44286,AAI52453,AAI52563,BAA07655,P46934,ACE87832,ACT64356 Hs.1565 KIAA0093|MGC176705|NEDD4-1|RPF1 E3 ubiquitin-protein ligase NEDD4|NEDD-4|OTTHUMP00000217840|OTTHUMP00000217841|OTTHUMP00000217842|cell proliferation-inducing gene 53 protein|neural precursor cell expressed developmentally down-regulated protein 4|neural precursor cell expressed, developmentally down-regulated gene 4a|receptor-potentiating factor 1 protein-coding 1344203 NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like 17502380,17487281,17331106,17081983,16788695,16716084,16701206,16344560,16103266,15814530,15677482,15576372,15496141,15489334,15489223,15342556,15328345,15252135,15231748,15217910,15140763,15044175,15040001,14702039,14615060,14556380,12911626,12876068,12729930,12522688,12477932,12139396,12050153,11840194,11748237,11742982,11696533,11562473,11046148,10594025,9455477,9110174,8619474,20090362,21052022,20675381,20936779,8576257,19153599,16169070,9649342,15778465,11244092,18577513,19635985,19615332,19364400,19144635,18591455,18498246,18322022,18321969,18321968,18293164,18268134,17652939,17544362,20466724,20504882,15548568,19381069,19615732,19617352,19664597,19690890,19706893,19917253,19953087,20003179,20051513,20064473,20379614 23327 DQ181796,AY243315,AY243316,AY243317,AY243318,AY243319,AY243321,AY243322,AY256662,AY312514,AY751751,BC000621,BC019345,BC032597,BP260852,CR596491,CR598386,DA248109,DA759940,DB317092,DB473368,DC363885,NM_015277,NM_001144964,NM_001144971,NM_001144965,NM_001144968,NM_001144969,NM_001144970,NM_001144966,AC015988,AC090236,AC107896,CH471096,AB007899,AB071179,AF070601,AF210730,AF385931,AK091189,AK130420,AK294963,AK300444,AL137469,AY112983,AY112984,AY112985,AY243313,AY243314,NM_001144967 AAP97873,AAP75706,AAU95503,AAH00621,AAH19345,AAH32597,NP_001138439,NP_056092,NP_001138436,NP_001138443,NP_001138437,NP_001138440,NP_001138441,NP_001138442,NP_001138438,EAW63064,EAW63065,EAW63066,EAW63067,EAW63068,EAW63069,EAW63070,EAW63071,EAW63072,EAW63073,EAW63074,EAW63075,BAA23711,BAB69424,AAG43524,AAM46208,BAH11935,BAH13286,CAB70754,AAM76728,AAM76729,AAM76730,AAP97872,ABA10330,Q3LSM7,Q5XLQ3,Q7Z4N9,Q7Z4P0,Q96PU5,ABM81839,ABM84276 Hs.185677 FLJ33870|KIAA0439|NEDD4-2|RSP5|hNedd4-2 E3 ubiquitin-protein ligase NEDD4-like|NEDD4.2|neural precursor cell expressed, developmentally down-regulated gene 4-like|ubiquitin-protein ligase NEDD4-like|ubiquitin-protein ligase Rsp5 protein-coding 1350647 NEDD7 neural precursor cell expressed, developmentally down-regulated 7 4737 735521 NEDD8 neural precursor cell expressed, developmentally down-regulated 8 1549457,1580863 16998474,20850415,12646924,12554766,12504025,12477932,12215427,11953428,11675391,11585840,11259415,11181995,10828074,10772955,10713156,10597293,10587588,10318914,10217437,10207026,9857030,9790970,8889548,8395831,1378265,18173839,18627766,14757770,12481031,16169070,16177058,16964240,17192413,17369817,17546054,19281774,19615732,19713960,19784069,12730221,15567417,17353931,9694792,10500095,9353319,19245792,18851830,18826954,18805092,18723677,18652489,18323857,18274552,18264111,18096514,17935801,17660949,17132228,17119158,17098746,16979187,16861300,16735510,16620772,16503656,15694336,15489334,15242646,14702039,14690597,14676825,12816948,12759363,12740388,20688984,20603103 1549457 4738 NM_006156,AL096870,CH471078,AK125214,BC038290,BC064899,BC104200,BC104201,BC104664,BE548741,CF130271,CR407662,D23662 NP_006147,AAI04201,AAI04202,AAI04665,CAG28590,BAA04889,Q15843 Hs.531064 FLJ43224|MGC104393|MGC125896|MGC125897|NEDD-8|Nedd-8 NEDD8|neddylin|neural precursor cell expressed developmentally down-regulated protein 8|neural precursor cell expressed, developmentally down-regulated gene 8|ubiquitin-like protein Nedd8 protein-coding 1314803 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 19417561,19539609,19648964,20379614,20413850,20430066,11827972,9584194,8668148,19275884,19103205,18585997,18579580,18465784,18063669,17908996,17703068,17604723,16394104,16352661,16344560,16344118,16184168,15592516,15489334,15376324,15231748,15144564,15144186,15051726,12847683,12522270,12517963,12477932,12189134,11782456,11438665,11118211,11054566,10866674,10808124,10692442,10508479,10502414,10490968,10455189,9820532,9748319,9498705,9497377,9405482,9366405,9360983,9020138,8879209,9162067,20428794,21059344,20498643,20534741 4739 NM_006403,NM_182966,AL022098,AL136139,AL139807,AL512382,CH471087,AA814628,AJ420493,AK292682,BC020686,BC040207,BC050740,BX648041,CR617655,DA778416,L43821,U64317,NM_001142393 NP_001135865,NP_006394,NP_892011,CAI21634,CAI22676,CAI22677,CAI21579,CAI21580,CAI21581,EAW55299,EAW55300,EAW55301,EAW55302,EAW55303,BAF85371,AAH20686,AAH40207,AAA98770,AAB53696,Q14511,Q5TI59,Q5XKI0,ABM82651,ABM85828,ACE87697,ACE87009 Hs.37982 CAS-L|CAS2|CASL|CASS2|HEF1|dJ49G10.2|dJ761I2.1 CRK-associated substrate-related protein|Cas scaffolding protein family member 2|Crk-associated substrate related|NEDD-9|OTTHUMP00000221385|cas-like docking|dJ49G10.2 (Enhancer of Filamentation 1 (HEF1))|dJ761I2.1 (enhancer of filamentation (HEF1))|enhancer of filamentation 1|neural precursor cell expressed developmentally down-regulated protein 9|p105|renal carcinoma antigen NY-REN-12 protein-coding 736723 NEFH neurofilament, heavy polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq] 1302518,1300048,1302574,1580863 18319731,19678766,9592082,20213320,12477932,12130654,11238716,10048485,9931323,9875737,9388258,8889548,8621664,8379998,8224877,8102569,7849698,2557834,1688443,20624930,14662745,3138108,19104679,19054571,18635547,17626162,17290105,16084104,15489334,14722583,12963086,12674703,20140245 1302518,1302574 4744 NM_021076,NG_008404,AC000035,CH471095,X15306,X15307,X15308,X15309,AA908662,AB020652,AF203032,AK302660,BC008648,BC073969,BE223015,BE782873,BG470629,BM686053,S66488 NP_066554,EAW59804,EAW59805,EAW59806,CAA33366,BAA74868,AAF13722,BAG63896,AAH08648,AAH73969,AAB28609,P12036,Q16070 Hs.198760 NFH 200 kDa neurofilament protein|NF-H|neurofilament heavy polypeptide|neurofilament triplet H protein|neurofilament, heavy polypeptide 200kDa protein-coding 1343217 NEFHL neurofilament, heavy polypeptide-like 4746,339396 AL135798,NG_022735 NEFHL pseudo 1344238 NEFL neurofilament, light polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq] 2299007,2299053,2298999,1358514,1580863 19123978,19110265,19034380,18758688,18023247,17923616,17903209,17620486,17475803,17290105,16930284,16678934,16452125,16344560,16084104,15686490,15654615,15489334,15241803,15122254,15111691,14733962,12911634,12837694,12730211,12566280,12481988,12477932,12477167,12231460,12133495,11220745,10841809,9763415,9388258,9373149,8863508,8621664,20213320,19488899,10373510,12403814,12815021,14622581,15324660,16169070,19158810,19286384,19678766,19950375,20039262,20086018,20201926,20381070,8615909,8665664,9481670,14662745,12432080,12226091,15857389,17052987,8530496,8344946,8180132,8125298,6135695,3121319,3036423,3034332,2516804,1902666,1497855,9425014,15383276 2299007,2298999,1358514 4747 NG_008492,AC107373,AY082067,CH471080,S70309,X05608,AK057731,AK075003,AK127430,AK225975,AK299095,AK314591,AL713644,AY156690,BC037803,BC039237,BC066952,DA195749,DA222123,NM_006158 NP_006149,AAL92540,EAW63598,EAW63599,EAW63600,EAW63601,AAD14057,CAA29097,BAG52047,BAG54502,BAG61155,CAD28456,AAN74826,AAH39237,AAH66952,P07196,Q7Z5R4,Q8TCR7,ABM83572,ABM86810 Hs.521461 CMT1F|CMT2E|FLJ53642|NF-L|NF68|NFL 68 kDa neurofilament protein|OTTHUMP00000196614|light molecular weight neurofilament protein|neurofilament light polypeptide|neurofilament protein, light chain|neurofilament subunit NF-L|neurofilament triplet L protein|neurofilament, light polypeptide 68kDa|neurofilament-light protein-coding 1345146 NEFLL1 neurofilament, light polypeptide-like 1 3145240 4748 1348787 NEFLL2 neurofilament, light polypeptide-like 2 4749 2794507 NEFLP1 neurofilament, light polypeptide pseudogene 1 12815422,9847074 359795 AC009239,NG_002813 pseudo 735476 NEFM neurofilament, medium polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1300048,1302566,1580863 20213320,20562859,3608989,14662745,19034380,16734940,16084104,16006557,15822905,15342556,15290901,14583397,12963086,12477932,20624930,15032605,20201926,20381070,12133495,11563628,10762698,8702840,8620924,8344946,7829101,7790359,2557834,2450354,1537832,1348579,20471030 1302566 4741 NM_005382,NM_001105541,NG_008388,AF106564,CH471080,Y00067,AF181990,AK294681,AK296226,BC002421,BC071752,BC096757,BI496345,BP247321,BP311096,CR611974,DC318935,DC332005,DC352660,EF560736,EF560737 NP_005373,NP_001099011,EAW63602,CAA68276,AAF00492,BAG57843,BAG58949,AAH96757,ABQ59046,ABQ59047,P07197,Q9UK51,ACT64376,ACT64377 Hs.458657,Hs.728166 NEF3|NF-M|NFM 160 kDa neurofilament protein|neurofilament 3|neurofilament 3, medium|neurofilament medium polypeptide|neurofilament triplet M protein|neurofilament, medium polypeptide 150kDa|neurofilament-3 (150 kD medium) protein-coding 1348692 NEGR1 neuronal growth regulator 1 737633,1299429,1580863 19164386,19079261,19079260,18204098,17903294,16710414,16602701,14702039,12975309,12477932,10075727,19692490,19746409,19812171,19851340,19910938,20215397,20379614,20386550,20520848,19913121,20571754,20628086,20816195,20712903,20724581,20725061,20816152,20935630 737633,1299429 257194 NM_173808,AL354949,AL355590,AL356600,AL359821,AL365362,AL391239,AL513349,AL627317,AL645724,AL645767,CH471059,AK092307,AK295481,BC036771,BX538014,BX648027,CR749215 NP_776169,CAI16869,CAI16870,CAI23492,CAI23493,CAH70913,CAH70914,CAH72391,CAH72392,CAI21858,EAX06428,EAX06429,EAX06430,BAC03858,BAG58406,AAH36771,CAD97961,CAH18072,Q68DZ8,Q7Z3B1,Q8N440 Hs.146542 DMML2433|IGLON4|KILON|MGC46680|Ntra IgLON family member 4|OTTHUMP00000011268|a kindred of IgLON|neuronal growth regulator 1|neurotractin protein-coding 1314485 NEIL1 nei endonuclease VIII-like 1 (E. coli) NEIL1 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM] 1580863 15489334,15350146,15319300,15260972,15232006,15159582,14734554,14702039,14522990,12509226,12477932,12433996,12200441,11904416,19258314,19443904,20005182,20099873,20496165,20522537,20338831,20346739,17611195,19179336,19047128,18662981,18594018,18543945,18515411,18155253,18032376,17556049,17432829,17395641,17348689,17150535,17029639,16446124,16344560,16118226,15533839 79661 NM_024608,AC068338,AY257544,CH471136,AB079068,AK026055,AK026216,AK097008,AK128372,BC010876,DB282730 ABM85531,NP_078884,AAO74826,EAW99255,EAW99256,EAW99257,EAW99258,EAW99259,EAW99260,BAC06476,BAB15337,AAH10876,Q96FI4,ABM82356 Hs.512732 FLJ22402|FPG1|NEI1|hFPG1 DNA glycosylase/AP lyase Neil1|DNA-(apurinic or apyrimidinic site) lyase Neil1|NEH1|endonuclease 8-like 1|endonuclease VIII|endonuclease VIII-like 1|nei homolog 1|nei-like protein 1 protein-coding 1323805 NEIL2 nei like 2 (E. coli) NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226])[supplied by OMIM] 18651651,18594018,18515411,17686777,17150535,17029639,16982218,16381901,16344560,15489336,15489334,15339932,15175427,14734554,14702039,14522990,12509226,12477932,12200441,12097317,11230166,11076863,9373149,8125298,20175991,20496165,20522537,15572695,20819778 252969 NM_001135746,NM_001135747,NM_001135748,AC069185,AY306127,CH471157,AB079070,AK056206,AK097389,AK225837,AK294224,BC013952,BC013964,BC045822,NM_145043,BX537529,CR600966,DA205315,DA207321,DB452586 NP_659480,NP_001129218,NP_001129219,NP_001129220,AAP45052,EAW65623,EAW65624,EAW65625,EAW65626,BAC06478,BAB71120,BAC05030,BAG57528,AAH13952,AAH13964,AAH45822,CAD97774,Q3ZCR7,Q969S2,CAL38464,ACE87608,ACE86921 Hs.293818 FLJ31644|MGC2832|MGC4505|NEH2|NEI2 DNA glycosylase/AP lyase Neil2|DNA-(apurinic or apyrimidinic site) lyase Neil2|endonuclease 8-like 2|endonuclease VIII-like 2|nei homolog 2|nei like 2|nei-like protein 2 protein-coding 1352319 NEIL3 nei endonuclease VIII-like 3 (E. coli) NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM] 19170771,18515411,18270339,17903306,15489334,15342556,15146197,14702039,12713815,12509226,12477932,12433996,12200441,19121397 55247 NM_018248,AC027627,CH471056,DQ310721,AB079071,AI419161,AK001720,AK307692,BC025954,BE865481,BP380910,CN426741,CR605089 NP_060718,EAX04716,ABC40719,BAC06479,BAA91860,AAH25954,Q8TAT5 Hs.405467 FGP2|FLJ10858|FPG2|NEI3|hFPG2|hNEI3 DNA glycosylase FPG2|DNA glycosylase hFPG2|DNA glycosylase/AP lyase Neil3|endonuclease 8-like 3|endonuclease VIII-like 3|nei-like protein 3 protein-coding 1319690 NEK1 NIMA (never in mitosis gene a)-related kinase 1 1580863 20230784,20501547,20800603,14690447,15231747,15604234,18843199,15345747,14702039,12477932,11572484,10508479,8274451,1382974,19924516,16344560 4750 CR936672,Z25431,NM_012224,AC084724,AC116615,AC116621,CH471056,AB067488,AF155113,AK025658,AK027580,AL050385,BC015147,BC037790,BC068201,BC114491,CD358162,CR933642,AI984346,DA697159,NG_027982,NM_001199397,NM_001199398,NM_001199399,NM_001199400 CAI45943,CAA80918,Q15453,Q5JXL9,Q96PY6,NP_036356,EAX04787,EAX04788,EAX04789,EAX04790,EAX04791,BAB67794,AAD42879,BAB15207,BAB55209,CAI46225,AAH15147,AAH37790,AAI14492,NP_001186326,NP_001186327,NP_001186328,NP_001186329 Hs.481181,Hs.713284 DKFZp686D06121|DKFZp686K12169|KIAA1901|MGC138800|NY-REN-55 OTTHUMP00000219432|OTTHUMP00000219433|OTTHUMP00000219434|OTTHUMP00000219435|never in mitosis A-related kinase 1|nimA-related protein kinase 1|protein-serine/threonine kinase|renal carcinoma antigen NY-REN-55|serine/threonine-protein kinase Nek1 protein-coding 1350326 NEK10 NIMA (never in mitosis gene a)- related kinase 10 19330027,15289607,14702039,12477932,20095854,20145138,20379614,20956560 152110 AC093555,AC098931,AC099535,AC133142,CH471055,AK057247,AK098832,AK123061,AK128585,BC045758,BX537852,DQ104438,NM_199347 NP_955379,EAW64376,EAW64377,EAW64378,EAW64379,EAW64380,BAB71395,BAC05427,BAC85527,BAC87513,AAH45758,CAD97860,AAZ20184,Q6ZWH5,Q8N774 Hs.506115 FLJ32685 never in mitosis A-related kinase 10|nimA-related protein kinase 10|serine/threonine-protein kinase Nek10 protein-coding 1318782 NEK11 NIMA (never in mitosis gene a)- related kinase 11 This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described. 8889548,15161910,18519826,15489334,14702039,12742165,12477932,12154088,18029348,19734889,20090422,20379614 79858 NM_024800,NM_145910,NM_001146003,AC010210,AC055733,AC083908,AC116424,AC121332,CH471052,AB071996,AB071997,AK027148,AK123021,AK293261,AK297300,AK316352,AL833472,BC009414,BC026195,BC028587,BU674219,BX328072,CR599596 NP_079076,NP_665917,NP_001139475,EAW79212,EAW79213,BAC06350,BAC06351,BAB15672,BAG56793,BAG59768,CAI46114,AAH28587,Q8NG66,BAH14723 Hs.657336 FLJ23495 OTTHUMP00000216112|OTTHUMP00000216137|OTTHUMP00000216138|OTTHUMP00000216139|OTTHUMP00000216140|never in mitosis A-related kinase 11|nimA-related protein kinase 11|serine/threonine-protein kinase Nek11 protein-coding 732517 NEK2 NIMA (never in mitosis gene a)-related kinase 2 1580863 9647649,10880350,18086858,9430639,11742988,19123481,19038001,19008095,18297113,17626005,17621308,17535851,17283141,17197699,16710414,16084011,15950749,15659832,15659651,15492258,15489334,15387139,15358203,15252450,15161910,14978040,12857871,12477932,12386167,12221103,11785960,11742531,10645953,10347187,9373149,8274451,8125298,7522034,9295362,20718755,20734064,11076968,12221128,12852856,16462731,16648845,20508983,7790358,16157594,20581865,20599736 4751 Z25425,Z29066,AC096637,AL356310,CH471100,AK223353,AK225522,AK303092,AY045701,AY863109,BC043502,BC052807,BC065932,BT019729,CR593900,CR601480,DQ786247,DQ786281,U11050,NM_002497 CAA80912,CAA82309,P51955,Q5I1Z9,AAA19558,NP_002488,CAH72901,EAW93410,EAW93411,BAD97073,BAG64202,AAK92212,AAW56418,AAH43502,AAH52807,AAH65932,AAV38534 Hs.153704 HsPK21|NEK2A|NLK1 never in mitosis A-related kinase 2|nimA-like protein kinase 1|nimA-related protein kinase 2|serine/threonine-protein kinase Nek2 protein-coding 1345015 NEK2P NEK2 pseudogene 326302 NG_002554,AL512310,AL929601 NEK2P pseudo 2859133 NEK2P2 NEK2 pseudogene 2 100379667 AP000532,NG_016726 pseudo 3077625 NEK2P3 NEK2 pseudogene 3 100158258 CR383656,NG_007923 pseudo 3322039 NEK2P4 NEK2 pseudogene 4 100381202 AC009477,NG_016766 pseudo 1316605 NEK3 NIMA (never in mitosis gene a)-related kinase 3 This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 20379614,15618286,7522034,17297458,17118778,16344560,15489334,15345747,12477932,12063396,10224116,8889548,8274451 4752 NM_002498,NM_152720,NM_001146099,NR_027415,AL139082,CH471075,AB072828,AI026881,AK131359,AK290259,BC019916,BM984985,BQ648157,CR606903,CR612915,DA733733,DB185803,Z25434,Z29067,AL833951 NP_002489,NP_689933,NP_001139571,CAI12894,CAI12895,EAX08905,EAX08906,EAX08907,EAX08908,EAX08909,BAC15599,BAD18511,BAF82948,AAH19916,CAA80921,CAA82310,P51956,Q5JPB0,Q5TAP3,Q6ZN64,CAI46210,ABM82729,ABM85913 Hs.409989 HSPK36|MGC29949 HSPK 36|OTTHUMP00000018443|glycogen synthase A kinase|hydroxyalkyl-protein kinase|never in mitosis A-related kinase 3|nimA-related protein kinase 3|phosphorylase B kinase kinase|serine/threonine-protein kinase Nek3 protein-coding 1312757 NEK4 NIMA (never in mitosis gene a)-related kinase 4 1580863 8208544,19416921,12477932,9552363,601959,16344560,18029348,20103636,20734064,20800603 6787 NM_003157,AC006254,AC104446,CH471055,AK294165,AK312420,BC015515,BC063044,EF560744,L20321,AI860526,DB073127,NM_001193533 NP_003148,EAW65258,BAH11686,BAG35330,AAH15515,AAH63044,ABQ59054,AAA36658,P51957,Q05DF6,NP_001180462 Hs.631921 MGC33171|NRK2|STK2|pp12301 OTTHUMP00000213582|never in mitosis A-related kinase 4|nimA-related protein kinase 4|serine/threonine kinase 2|serine/threonine protein kinase-2|serine/threonine-protein kinase 2|serine/threonine-protein kinase NRK2|serine/threonine-protein kinase Nek4 protein-coding 1344374 NEK5 NIMA (never in mitosis gene a)-related kinase 5 15489334,15057823,12477932,9552363 341676 NM_199289,AL139082,AK126330,BC063885,CR598570 NP_954983,CAI12892,AAH63885,Q6P3R8 Hs.672144 MGC75495 never in mitosis A-related kinase 5|nimA-related protein kinase 5|serine/threonine-protein kinase Nek5 protein-coding 1347059 NEK6 NIMA (never in mitosis gene a)-related kinase 6 The Aspergillus nidulans 'never in mitosis A' (NIMA) gene encodes a serine/threonine kinase that controls initiation of mitosis. NIMA-related kinases (NEKs) are a group of protein kinases that are homologous to NIMA. Evidence suggests that NEKs perform functions similar to those of NIMA.[supplied by OMIM] 1580863 14563848,16476580,17353931,12761501,12054534,19414596,18728393,17512906,16189514,15761153,15489334,15342556,12840024,12477932,12101123,12023960,11701951,11516946,10964517,10702691,10191262,19001501,20677014,16344560,20125193,20379614,20595392,20407017 10783 NM_014397,AL137846,AL162724,CH471090,AB026289,NM_001145001,AF087909,AJ420460,AK294614,AK313071,BC000101,BC004174,BC004209,BC012761,BP219389,BP265230,CR457091,CR542222,CR608265,CR611916,CR614269,CR619855,BM083872,BP279761,CF994196,DB350175,NM_001166167,NM_001166168,NM_001166169,NM_001166170,NM_001166171 NP_001138473,NP_055212,CAI10875,CAI10876,CAI10877,CAI10878,CAI10879,CAI10880,CAI10881,CAI10882,CAI10883,CAH70246,CAH70247,CAH70248,CAH70249,CAH70250,CAH70251,CAH70252,CAH70253,CAH70254,EAW87578,EAW87579,EAW87580,EAW87581,BAA85045,AAG13417,BAH11825,BAG35899,AAH00101,AAH04174,AAH04209,AAH12761,CAG33372,CAG47018,Q9HC98,NP_001159639,NP_001159640,NP_001159641,NP_001159642,NP_001159643 Hs.197071 SID6-1512 OTTHUMP00000022094|OTTHUMP00000022098|OTTHUMP00000022099|OTTHUMP00000022100|OTTHUMP00000022101|never in mitosis A-related kinase 6|nimA-related protein kinase 6|protein kinase SID6-1512|putative serine-threonine protein kinase|serine/threonine-protein kinase Nek6 protein-coding 1322471 NEK7 NIMA (never in mitosis gene a)-related kinase 7 NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM] 1580863 17353931,19414596,17586473,17101132,12840024,11701951,10964517,20562859,19941817,20056645,20508983 140609 NM_133494,AC093419,AC093561,CH471067,AB062450,AK313411,AL080111,BC043003,CR614163,DB498485 NP_598001,EAW91293,EAW91294,EAW91295,EAW91296,BAB85632,BAG36205,Q8TDX7,AAI52873,AAI56617 Hs.24119,Hs.723303 never in mitosis A-related kinase 7|nimA-related protein kinase 7|serine/threonine-protein kinase Nek7 protein-coding 1315774 NEK8 NIMA (never in mitosis gene a)- related kinase 8 This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq] 1580863 17474147,18199800,15872312,15761153,15489334,15019993,12477932,11864968,19066617,21068128 284086 NM_178170,NG_012263,AC010761,CH471159,AK301429,AL833909,AY242354,AY267371,BC112240,BC113705 ADR83101,NP_835464,EAW51135,EAW51136,EAW51137,BAG62957,CAD38765,AAO88243,AAP04006,AAI12241,AAI13706,Q86SG6 Hs.448468 JCK|MGC138445|NEK12A|NPHP9 NIMA-family kinase NEK8|NIMA-related kinase 12a|nephrocystin 9|never in mitosis A-related kinase 8|nimA-related protein kinase 8|nima-related protein kinase 12a|serine/threonine-protein kinase Nek8|serine/thrionine-protein kinase NEK8 protein-coding 1316228 NEK9 NIMA (never in mitosis gene a)- related kinase 9 20562859,17353931,18029348,17443675,17192257,17081983,15489334,15019993,14660563,12840024,12508121,12477932,12101123,12056414,11864968,8889548,19001501,16902406,19941817,20508983 91754 NM_033116,AC007055,AL049780,CH471061,AB082526,AK128693,AL117502,AL832633,AL833036,AY048580,AY080896,BC001714,BC009336,BC093881,BC112101,BM976692,DB455229,CR612206 NP_149107,AAD31936,AAD31938,AAD31939,AAD31940,EAW81220,EAW81221,EAW81222,BAC02704,BAG54712,AAL05428,AAL87410,AAH01714,AAH09336,AAH93881,AAI12102,Q6PKF2,Q8TD19 Hs.7200 DKFZp434D0935|MGC138306|MGC16714|NERCC|NERCC1|Nek8 NIMA-related kinase Nek8|nercc1 kinase|never in mitosis A-related kinase 9|nimA-related kinase 8|nimA-related protein kinase 9|serine/threonine-protein kinase Nek9 protein-coding 733597 NELF nasal embryonic LHRH factor 737633 19489874,19245807,18463157,16565220,15489334,15362570,15164053,15146197,14702039,12477932,11230166,10898796,16169070,16713569,20025934 737633 26012 NM_015537,NM_001130970,NM_001130969,AL365502,CH471090,CQ782572,AJ420418,AK027474,AK074602,AK292030,AK294320,AK303703,AK303976,AK316046,AL117660,AL389944,AL389945,AL389946,AW072125,AY255128,AY255129,AY255130,AY255131,AY255132,BC004318,BC016862,BC072412,BC110498,BM023184,CN306732,CR595636,NM_001130971,CR602745,NG_021362,NM_001178064 NP_001124443,NP_056352,NP_001124442,NP_001124441,CAI14575,CAI14576,CAI14577,CAI14578,EAW88390,EAW88391,EAW88392,EAW88393,EAW88394,CAF85849,BAB55139,BAC11086,BAF84719,BAG57594,BAG64688,BAH14089,BAH14417,CAB56031,CAB97524,CAB97542,CAB97525,AAP83576,AAP83577,AAP83578,AAP83579,AAP83580,AAH04318,AAH16862,AAH72412,AAI10499,Q2TB96,Q5T359,Q6X4W1,Q96AQ0,Q9BT66,Q9NTU2,NP_001171535 Hs.455336 MGC125369|RP11-48C7.1 OTTHUMP00000022698|OTTHUMP00000022699|nasal embryonic luteinizing hormone-releasing hormone factor protein-coding 733264 NELL1 NEL-like 1 (chicken) This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20647499,20200953,20379614,8975702,19422935,19174780,18987618,18519826,18082140,17684544,17452981,17042739,16713569,16344560,15489334,15124103,14702039,14659887,12477932,12235118,11803583,10548494,10231576,9893069,7757816,20800603,19913121,20628086 4745 NM_006157,NM_201551,AC010811,AC067794,AC069575,AC087279,AC090707,AC090857,AC099730,AC105190,AC108460,CH471064,CQ840941,AA971151,AB085898,AK093338,AK127805,AK299558,AK303736,AK313445,BC069674,BC096100,BC096101,BC096102,BC096103,BX476569,D83017,DA165320,H10041,U57523 NP_006148,NP_963845,EAW68326,EAW68327,EAW68328,CAH05708,BAC22636,BAC04136,BAG54574,BAG61502,BAG64709,BAG36234,AAH69674,AAH96100,AAH96101,AAH96102,AAH96103,BAA11680,AAB06946,Q4VB88,Q8IZZ6,Q8N9Z6,Q92832 Hs.657172 FLJ45906|IDH3GL|NRP1 NEL-like protein 1|isocitrate dehydrogenase 3 (NAD+) gamma-like|nel-related protein 1|neural epidermal growth factor-like 1|protein kinase C-binding protein NELL1|protein kinase c-binding protein nell1 protein-coding 732316 NELL2 NEL-like 2 (chicken) The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq] 1580863 8975702,20379614,9480764,16713569,16344560,15489334,15340161,14702039,12477932,10548494,10231576 4753 NM_001145110,NM_001145107,NM_001145108,NM_006159,NM_001145109,AC018923,AC025253,AC079033,AC079825,AC090012,CH471111,CQ840944,AK056082,AK095637,AK295125,AK297521,AK299277,AK299733,AK309825,AK315960,AK316058,AL527608,BC020544,CR598058,CR606928,D83018,D89629,DA307194,DB316660,DC314160,FB353554,GN344091 NP_001138582,NP_001138579,NP_001138580,NP_006150,NP_001138581,EAW57873,EAW57874,EAW57875,CAH05709,BAG53095,BAH11983,BAH12604,BAH12990,BAH13111,BAH14331,BAH14429,AAH20544,BAA11681,BAB46925,Q96JS2,Q99435,CAR82358,CAY55981 Hs.505326 NRP2 NEL-like protein 2|NEL-related protein 2|neural epidermal growth factor-like 2|protein kinase C-binding protein NELL2 protein-coding 1343844 NEM1 nemaline myopathy 1, autosomal dominant 4754 1603399 NENF neuron derived neurotrophic factor This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq] 18056703,15605373,15489334,12477932,9771976,9373149,8125298 29937 NM_013349,NR_026598,AC092803,CH471100,AB126219,AF049672,AF173937,AK074431,AK223135,AY762102,BC008823,DB502983,DB574171 NP_037481,EAW93389,BAD72063,AAD51419,BAD96855,AAX07829,AAH08823,Q9UMX5 Hs.461787 CIR2|NEUDESIN|SCIRP10|SPUF SCIRP10-related protein|Spinal cord injury related protein 10|cell growth-inhibiting protein 47|cell immortalization-related protein 2|neudesin|neuron-derived neurotrophic factor|secreted protein of unknown function protein-coding 733424 NEO1 neogenin homolog 1 (chicken) 1580863 16244667,19564337,20237496,18287331,9169140,18583991,18445598,18326817,16335952,16324219,15489334,12833147,12636918,12477932,10366627,9121761,8861902,15494733,15258591,18029348,18391016,20575069,15923648 4756 DB458571,NG_016965,NM_001172623,NM_001172624,NM_002499,AC068397,AC104420,AC129980,CH471082,AB209412,AL355708,AL359597,AL390182,BC117161,BC143270,BC143271,BC143279,BM564445,DB478373,U61262,U72391 NP_001166094,NP_001166095,NP_002490,EAW77923,EAW77924,BAD92649,AAI17162,AAI43271,AAI43272,AAB17263,AAC51287,Q59FP8,Q92859 Hs.388613 DKFZp547A066|DKFZp547B146|HsT17534|IGDCC2|NGN immunoglobulin superfamily DCC subclass member 2|neogenin|neogenin homolog 1 protein-coding 3322382 NEPNP nephrocan, pseudogene Nephrocan is a secreted glycoprotein that acts as an inhibitor of the transforming growth factor-beta signaling pathway. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq] 16990280,18085818,20210993 442253 AL589939,NG_008306 NEPN|NPN pseudo 737242 NES nestin Nestin is an intermediate filament protein that was first identified with a monoclonal antibody by Hockfield and McKay (1985) [PubMed 4078630]. It is expressed predominantly in stem cells of the central nervous system in the neural tube. Upon terminal neural differentiation, nestin is downregulated and replaced by neurofilaments.[supplied by OMIM] 1642069,1642074,1642072,1642071,1580863 9917366,18029348,19268442,18998057,20044038,19845757,20669222,19864043,18923447,18799194,18925963,18724228,18724036,18618166,18546018,18265627,17984177,17909025,17784840,17784648,17652163,17537965,17300669,17273760,17255215,17210924,17081983,17036052,16874866,16826367,16736556,16713999,16616189,16538520,16487364,16275024,16186627,16136494,15839736,15684833,15526158,15502861,15345747,15176089,15127288,15117961,15088413,15048923,15048922,14965830,14765974,14757413,14743441,14648588,14625035,14613807,14514635,12971951,12966727,12966327,12928287,12836073,12832492,12816052,12786777,12754281,12751206,12724646,12695551,12663072,12662433,12640742,12477932,12187925,12172785,12101039,12051722,11947939,11278541,11161590,10931522,10915564,10912785,10686078,10595912,9104587,4078630,1478958,20536663,19578047,19170896,19294612,19417621,19445653,19473053,19554024,19562035,19704967,19956860,20017104,20132963,20649878,20518888 1642069,1642074,1642072,1642071 10763 NM_006617,NG_012300,AF004335,AL590666,CH471121,X65964,AB073350,AF086454,AK025494,AL120767,BC032580,BC051373,BC108285,BC142611,BF340882,BG912782,BQ678387,BU554136 NP_006608,AAB64426,CAI16338,EAW52923,EAW52924,EAW52925,EAW52926,CAA46780,BAE45713,BAB15153,AAH32580,AAI08286,AAI42612,P48681,Q05BW3,Q2YDX4,Q9H6U9,ACX32329 Hs.527971 FLJ21841|Nbla00170 nestin protein-coding 1312823 NET1 neuroepithelial cell transforming 1 1580863 8649828,19124484,18827818,18509476,20562859,18214716,17938206,16741933,16552434,16344560,15719398,15717291,15684429,15611121,15489334,15342556,12477932,11350080,11278519,9535835,20547485,11756498,12376548,12787561,16385451,18478931,19586902,19615732 10276 NM_001047160,NM_005863,AL732437,CH471072,AJ010046,AK024919,AK294244,AK299335,AK302687,AK304028,AK315566,BC010285,BC053553,BP354878,BU633004,BX537509,DB177813,S82401,U02081,AB209852 NP_001040625,NP_005854,CAI11031,CAI11032,CAI11033,EAW86445,EAW86446,CAA08974,BAG57540,BAG63916,BAG64943,BAG37941,AAH10285,AAH53553,AAB37683,AAB08847,Q59EF9,Q5SQI5,Q5SQI7,Q7Z628,BAD93089,BAG61338 Hs.25155 ARHGEF8|NET1A Rho guanine nucleotide exchange factor (GEF) 8|guanine nucleotide regulatory protein (oncogene)|neuroepithelial cell transforming gene 1|neuroepithelial cell-transforming gene 1 protein|neuroepithelioma transforming gene 1|p65 Net1 proto-oncogene protein|proto-oncogene p65 Net1|rho guanine nucleotide exchange factor 8|small GTP-binding protein regulator protein-coding 1348864 NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. It also has an intracellular FXNPXY-like motif, which has been shown in other proteins to be essential for the internalization of clathrin coated pits during endocytosis. Alternatively spliced transcript variants encoding distinct proteins have been described. 1580863 14702039,19243221,20499253,8889548,15489334,12477932,11943477,19913121,20628086 81832 NM_138966,NM_153181,AK123319,BU739516,NM_001201465,NM_138999,AC023301,AC091138,CH471117,AF448838,AF448839,AL834354,BC050329 NP_620416,NP_001188394,NP_694821,NP_620552,EAW66530,EAW66531,EAW66532,EAW66533,AAM18026,AAM18027,CAD39019,AAH50329,Q8TDF5 Hs.465407 BCTL1|BTCL1|FLJ41325 OTTHUMP00000197091|brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1|neuropilin and tolloid-like protein 1 protein-coding 1313264 NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. It also has an intracellular FXNPXY-like motif, which has been shown in other proteins to be essential for the internalization of clathrin coated pits during endocytosis. Alternatively spliced transcript variants have been observed, but they have not been fully characterized. 1580863 17671192,18841201,19217376,19349369,15489334,15340161,14702039,12975309,12477932,11943477,16344560 81831 NM_018092,AC007338,AC007494,AX164139,CH471092,CQ783994,AK001292,AK027478,AK027630,AK074937,AL834404,AY358718,BC012381,BC065504,BC098380,BC108727,BX538063,CR457255,AK297408,DA117339,NM_001201477 NP_060562,EAW82695,EAW82696,CAF86961,BAA91604,BAB55141,BAB55247,BAC11303,CAD39066,AAQ89080,AAH12381,AAI08728,CAD97994,CAG33536,Q32NC3,Q8NC67,AAI52766,AAI56956,BAH12573,NP_001188406 Hs.444046 BTCL2|FLJ10430|FLJ14724|FLJ90456|NEOT2 brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2|neuropilin and tolloid-like protein 2 protein-coding 735984 NEU1 sialidase 1 (lysosomal sialidase) The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq] 1580863 8985184,16314420,19151752,18772331,18651674,18606142,17562335,17480010,17028199,16835219,16538002,16344560,16094384,15885103,15489334,15213228,15024131,14695530,14656967,14517945,12477932,12067718,11829139,11702224,11571282,11470272,11279074,11063730,10944856,10767332,9501080,9480870,9054950,9020182,8910459,8312369,3922758,3102233,12487819,8892864,16169070,19473359,19568825,19666471,19686243,19851445 4758 NM_000434,AF040958,AK290966,AK313006,BC000722,BC011900,BT007206,CA428930,CR456717,CR541916,CR590817,CR592859,CR597671,CR598233,CR599956,CR600763,CR604418,CR607381,CR610204,CR610236,CR613270,CR613752,CR615712,CR615934,CR616447,CR617168,CR621134,CR626617,DB122914,U84246,X78687,NG_008201,AF134726,AL662834,AL671762,AL844853,AY559729,AY559730,AY559731,BA000025,BX005460,CH471081,CR388202,CR759784,CR933877,CR936237,AB209011 Q99519,ABM81642,ABM83112,ABM84822,ABM86306,NP_000425,Q6Q4G9,AAB96774,BAF83655,BAG35842,AAH00722,AAH11900,AAP35870,CAG32998,CAG46714,AAD09239,CAA55356,Q59GU8,Q5JQI0,Q6IBT5,Q6Q4G7,Q6Q4G8,AAD21814,CAI17742,CAI18221,CAI41850,AAT11275,AAT11276,AAT11277,BAB63297,CAM26147,EAX03536,EAX03537,CAQ09512,CAQ09305,CAQ08322,CAQ09153,BAD92248 Hs.520037 FLJ93471|NANH|NEU|SIAL1 G9 sialidase|N-acetyl-alpha-neuraminidase 1|acetylneuraminyl hydrolase|exo-alpha-sialidase|lysosomal sialidase|neuraminidase 1|sialidase-1 protein-coding 736190 NEU2 sialidase 2 (cytosolic sialidase) This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq] 1580863 15213228,19524683,8253770,17426694,15501818,15489334,14613940,12477932,10610726,10561456,10191093,12487819,8892864,20800603 4759 NM_005383,AC106876,CH471063,Y16535,BC069151,BC107053 NP_005374,AAY24360,EAW71028,CAB41449,AAH69151,AAI07054,Q9Y3R4 Hs.532681 MGC129579|SIAL2 N-acetyl-alpha-neuraminidase 2|cytosolic sialidase|neuraminidase 2|sialidase-2 protein-coding 1347886 NEU3 sialidase 3 (membrane sialidase) This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq] 1580863 20511247,20800603,12730204,10405317,18953356,18820643,18651674,18339327,18023981,17827720,17334392,17292733,17028199,16765317,16428383,16344560,16241905,15885103,15179041,15146197,14702039,12530538,12149448,12011038,10861246,12487819,8892864,12477932,19588508,19686243,20518744 10825 NM_006656,AP001992,CH471076,AB008185,AK022450,AK290442,AK303540,BC136397,BC144059,CN429425,DB240271,Y18563 NP_006647,EAW74953,EAW74954,BAA82611,BAG51074,BAF83131,BAG64566,AAI36398,AAI44060,CAB96131,Q9UQ49 Hs.191074 FLJ12388|SIAL3 N-acetyl-alpha-neuraminidase 3|ganglioside sialidase|membrane sialidase|neuraminidase 3|sialidase-3 protein-coding 1318506 NEU4 sialidase 4 This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. [provided by RefSeq] 1580863 14962670,16189514,15213228,18651674,15885103,15815621,15498874,15489334,14702039,14637003,12477932,19447967,19797320 129807 NM_080741,AC114730,AF048727,CH471063,AJ277883,AK025617,AK091038,AK096992,AK289421,AK290076,AK298403,AK300969,AY203952,BC012899,BC063465,BC067780,BC105974,BC117214,BQ651855,NM_001167599,NM_001167600,NM_001167601,NM_001167602 NP_542779,AAX82022,EAW71294,EAW71295,EAW71296,EAW71297,CAC81904,BAG52266,BAF82110,BAF82765,BAH12778,BAH13385,AAP34475,AAH12899,AAI05975,AAI17215,Q3KR05,Q8WWR8,NP_001161071,NP_001161072,NP_001161073,NP_001161074,ADR83030 Hs.551747 MGC102757|MGC18222 N-acetyl-alpha-neuraminidase 4|OTTHUMP00000164608|OTTHUMP00000200025|OTTHUMP00000200026|OTTHUMP00000200028|OTTHUMP00000200029|OTTHUMP00000200033|OTTHUMP00000200034|neuraminidase 4|sialidase-4 protein-coding 1315966 NEURL neuralized homolog (Drosophila) 1580863,2302390,1334462 9519875,15489334,15164054,12477932,12213446,12076535,11585928,20526338,16385451,11997106,19690564 2302390,1334462 9148 NM_004210,AL121929,AL139339,CH471066,AF029729,AK299620,BC026336,CR607490,U87864 NP_004201,CAI13958,CAI13959,CAI13960,CAH71486,EAW49628,EAW49629,EAW49630,AAD01887,BAG61548,AAH26336,AAC17474,O76050 Hs.727493 NEURL1|RNF67|bA416N2.1|neu|neu-1 RING finger protein 67|h-neuralized 1|neuralized-like (drosophila)|neuralized-like protein 1A protein-coding 2303667 NEURL1B neuralized homolog 1B (Drosophila) 17003037,15372022,14702039,19723503 54492 NM_001142651,AC027309,AL137347,AK026748,AK091605,AK096661,AK126311,GQ414757,GQ414758,GQ414759 NP_001136123,A8MQ27,ACV53563,ACV53564,ACV53565 Hs.91521 DKFZp761M1511|NEURL3|hNeur2|neur2 E3 ubiquitin-protein ligase NEURL1B|E3 ubiquitin-protein ligase NEURL3|neuralized 2 alternative protein|neuralized-2|neuralized-like protein 1B|neuralized-like protein 3 protein-coding 1315006 NEURL2 neuralized homolog 2 (Drosophila) 1580863,1598407,1334462 19472918,17003037,15489334,14960280,14702039,12477932,12076535,11780052 1334462 140825 NM_080749,BC105935,AL008726,CH471077,AJ295985,AK054821,AW298115,AW515245,BC074737,BC107485 NP_542787,CAC36018,EAW75790,CAC82498,BAB70810,AAH74737,AAI05936,AAI07486,Q9BR09 Hs.517094 C20orf163|MGC125934|MGC125935|OZZ|Ozz-E3 neuralized-like 2|neuralized-like 2 (drosophila)|neuralized-like protein 2 protein-coding 1605013 NEURL3 neuralized homolog 3 (Drosophila) pseudogene 15936721,12477932,11181995 93082 AL389981,BC012317,NR_026875,AC013270,AC021188,CH471207,AK311953 Q96EH8,EAW71368,EAW71369,BAG34893 Hs.149219 LINCR pseudo 731467 NEUROD1 neurogenic differentiation 1 This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq] 2313477,2313480,2313481,2313482,2313483,2313487,2313488,2313489,2313486,2313478,1625044,1601481,1580863 11591653,18029348,19353266,19619559,20120526,20416077,16357810,16344560,16321656,16321269,16055439,16026366,15993959,15815621,15708351,15665000,15650322,15592940,15489334,15277395,15247487,15047635,14759067,12951629,12890672,12881483,12861411,12639765,12482979,12477932,12476420,12200761,11900979,11788592,11755474,11575290,10757985,10636926,10507539,10366743,9714454,9703340,9343431,9144558,9039501,8915591,10545951,9308961,8786144,17941991,19307926,19228875,19086053,18811724,18587321,18519782,18339630,18331410,17985422,17440689,17327436,17217914,17192490,17126478,16936201,16909454,16873704,16870135,16773428,16569215,20692411,19913121,20573748,20628086,20682687 2313477,2313480,2313481,2313482,2313483,2313487,2313488,2313489,2313486,2313478,1625044,1601481 4760 NM_002500,NG_011820,AB009997,AB016079,AB018693,AB028145,AC013733,AF045152,AL049266,CH471058,U50822,AK313799,BC009046,BM505034,BT019731,D82347,DA486317,DB472071,DN949274,U36472,U80578 NP_002491,BAA87605,BAA36519,BAA76603,AAY24267,AAC83145,EAX10983,AAA93480,BAG36535,AAH09046,AAV38536,BAA11558,AAA79702,AAC51318,Q13562,ABM82486,ABM85673 Hs.574626,Hs.709709 BETA2|BHF-1|MODY6|NEUROD|bHLHa3 basic helix-loop-helix transcription factor|beta-cell E-box transactivator 2|class A basic helix-loop-helix protein 3|neurogenic differentiation factor 1|neurogenic helix-loop-helix protein NEUROD protein-coding 1344395 NEUROD2 neurogenic differentiation 2 This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq] 1580863 17117180,8816493,19124506,19086053,16607387,15489334,14732494,12477932,11900979,11732772,11473083,10662545,10640683,10209266,9748526,9119405,20880594 4761 NM_006160,AC087491,CH471152,U58681,AB021742,AW134767,BC022481,BT019365,CR590531,CR624963 NP_006151,EAW60579,AAC26058,BAA77569,AAH22481,AAV38172,Q15784,Q5U0R0 Hs.322431 MGC26304|NDRF|bHLHa1 class A basic helix-loop-helix protein 1|neuroD-related factor|neurogenic basic-helix-loop-helix protein|neurogenic differentiation factor 2 protein-coding 1321332 NEUROD4 neurogenic differentiation 4 1580863 19086053,16344560,12477932,11078465,8889548,20379614 58158 NM_021191,AC027287,AF203901,CH471054,AK314136,BC040961,BM683125,DA417566,DA768001 NP_067014,AAF99097,EAW96803,BAG36826,AAH40961,Q8IW56,Q9HD90 Hs.591024 ATH-3|ATH3|Atoh3|MATH-3|bHLHa4 class A basic helix-loop-helix protein 4|neurogenic differentiation factor 4|protein atonal homolog 3 protein-coding 1352054 NEUROD5 neurogenic differentiation 5 63975 1343073 NEUROD6 neurogenic differentiation 6 NEUROD6 is a member of the NEUROD (NEUROD1; MIM 601724) family of basic helix-loop-helix (bHLH) transcription factors (Guo et al., 2002 [PubMed 12357074]).[supplied by OMIM] 1580863 15036409,14702039,12690205,12477932,12357074,11748221,19733838 63974 NM_022728,AACC02000087,AC006380,CH471073,AF063609,AF136169,AF248954,AK055224,AK055238,AK289619,BC022560,BC035048,CR624239 ABZ92409,NP_073565,EAL24443,EAW93979,AAG43167,AAP97259,AAO12759,BAG51488,BAB70885,BAF82308,AAH35048,Q548T9,Q7Z4W9,Q8IYR9,Q96NK8 Hs.45152 Atoh2|MATH2|Math-2|NEX1M|bHLHa2 class A basic helix-loop-helix protein 2|neurogenic differentiation factor 6|protein atonal homolog 2 protein-coding 1352814 NEUROG1 neurogenin 1 1580863 20102160,8816493,19086053,18799289,18053270,17044100,15489334,12526089,12477932,11732772,11239394,9119405,19813087,20211142 4762 NM_006161,AC005738,CH471062,U63842,BC008687,BC028226,BT019366,FB571447 NP_006152,EAW62214,AAB37575,AAH08687,AAH28226,AAV38173,Q92886,ABM82455,ABM85644,CAR95141 Hs.248149 AKA|Math4C|NEUROD3|bHLHa6|ngn1 NGN-1|class A basic helix-loop-helix protein 6|neurogenic basic-helix-loop-helix protein|neurogenic differentiation 3|neurogenic differentiation factor 3|neurogenin-1 protein-coding 1319191 NEUROG2 neurogenin 2 Neurogenin-2 is a member of the neurogenin subfamily of basic helix-loop-helix (bHLH) transcription factor genes that play an important role in neurogenesis from migratory neural crest cells.[supplied by OMIM] 1580863 18242186,17784840,15489334,12477932,11203697,9539123,8948587,19879328,20332099 63973 NM_024019,AC023886,AF303002,CH471057,BC036847,CR615296 NP_076924,AAG40770,EAX06278,AAH36847,Q9H2A3 Hs.567563 Atoh4|MGC46562|Math4A|NGN2|bHLHa8|ngn-2 class A basic helix-loop-helix protein 8|neurogenin-2|protein atonal homolog 4 protein-coding 1344822 NEUROG3 neurogenin 3 Neurogenin-3 (NEUROG3) is expressed in endocrine progenitor cells and is required for endocrine cell development in the pancreas and intestine (Wang et al., 2006 [PubMed 16855267]). It belongs to a family of basic helix-loop-helix transcription factors involved in the determination of neural precursor cells in the neuroectoderm (Gradwohl et al., 2000 [PubMed 10677506]).[supplied by OMIM] 1642077,1601481,2313774,2313775,1580863 18093211,18072012,17922104,17146417,16873704,16855267,15277395,12477932,12403815,11270683,11246894,11206403,10677506,9000438,19336475,19307926,18461161,18210030,19538245,20807725 1642077,1601481,2313774,2313775 50674 NM_020999,AF234829,AJ133776,AL450311,CH471083,AK313952,BC069098,BC074938,BC074939,BC117488,BC126468,GQ904714,NG_021321 NP_066279,AAK15022,CAB45384,CAH72729,EAW54328,BAG36669,AAH69098,AAH74938,AAH74939,AAI17489,AAI26469,Q9Y4Z2,ABZ92401,ADR83510,ADM86144 Hs.532682 Atoh5|Math4B|NGN-3|bHLHa7|ngn3 class A basic helix-loop-helix protein 7|neurogenin-3|protein atonal homolog 5 protein-coding 1354261 NEXN nexilin (F actin binding protein) 19913121,20628086,20970104,15823560,12601173,12477932,12053183,9832551,8227983,19881492,20379614 91624 NM_144573,AC096948,AC138392,CH471059,AF114264,AF176780,AK057954,AK127535,AK307487,AY211912,BC017827,BC055084,BC111395,BC114444,BC114445,BQ009808,BX648546,CR936630,DC412178,DQ464902,S67069,AA249326,AK293201,AK298565,AK300728,NG_016625,NM_001172309 NP_653174,EAX06359,EAX06360,EAX06361,EAX06362,AAD29607,AAQ13658,BAB71622,AAO65165,AAH17827,AAH55084,AAI11396,AAI14445,AAI14446,CAI56773,ABE97925,AAB28815,Q0ZGT2,Q5CZ93,Q7Z4C7,Q86WF6,BAG56741,BAG60759,BAG62401,NP_001165780 Hs.612385 MGC104234|MGC138865|MGC138866|NELIN F-actin-binding protein|OTTHUMP00000038337|OTTHUMP00000038338|OTTHUMP00000038339|nexilin protein-coding 737471 NF1 neurofibromin 1 This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq] 1580932,1580933,1302540,1302542,1302541,1580863,1302577,1300048 20442305,20655465,1568247,1570015,11356864,17299016,16648142,17404841,1550670,19351817,19292874,19291764,19238080,19220708,19215943,19144660,19142971,19120036,19061981,19048115,19041782,18948576,18802710,18592002,18511569,18503770,18485440,18407053,18331998,18316778,18218617,18215124,18214791,18212816,18183042,18172006,18086893,18055911,18021924,17999360,17960768,17914445,17880527,17876295,17726231,17668375,17581973,17563086,17514731,17426081,17353900,17295913,17216419,17200120,17160901,17102080,17096025,17053831,16944272,16944271,16914719,16908010,16835897,16835260,16830335,16813595,16773574,16741618,16644864,16565220,16479075,16470740,16467218,16405917,16380919,16374483,16344560,16199547,16169856,16138909,16116616,16083285,16081245,16005615,15988004,15944227,15767669,15735964,15627836,15583390,15523642,15523626,15520408,15389774,15371411,15342556,15302935,15233998,15146469,15146197,15096131,14988005,14722914,14647436,13680360,13679444,12963615,12872266,12807981,12746402,12730209,12707950,12660952,12566521,12552569,12522551,12483293,12438263,12387455,12368469,12199909,12191989,12152785,12095621,12077339,12073021,11934389,11896613,11896214,11857752,7774960,7686513,7649559,7633452,7633431,7570581,7519874,2491776,2134734,2125369,2121370,2116237,2114220,1937470,1923522,1783401,1757093,1745350,1719426,1715669,1662505,1457041,1339276,1302608,1329097,2121371,20505189,20587590,21048031,20002172,20358387,10625171,12477932,19221814,19417008,19449407,19601812,19650418,19718661,19773259,19845691,19940123,20006588,20015894,20082856,20124472,20129251,20160012,20160346,20164853,20379614,20422842,20435627,20513137,20543202,20428205,20503322,20624961,11754043,11751683,11748857,11735023,11727265,11727199,11704931,11258625,11140831,10862698,10721668,10712197,10607834,10553997,10336779,10220149,9706718,9668168,9639526,9529361,9300663,9298829,9150739,9110174,9101300,9003501,9002664,8931693,8836031,8834249,8825634,8825042,8807336,8664912,8628317,8619474,8602361,8544190,8417346,8317503,8176268,8081387,8069310,7981724,7981679,7959746,7904209,7903661,7874161,20725927,20602485,18484666,18546366,20571392,19913121,20628086,20052761 1580932,1580933,1302540,1302542,1302541,1302577 4763 AF055023,AF086346,AK024873,AK026658,AK289936,AK301970,AK302063,BC144643,BP271334,BX391799,BX537850,CN415204,D10490,D12625,D42072,DA299151,DB094344,M38106,M38107,M60496,M60915,M61213,M82814,M89914,S51751,NM_001042492,NM_000267,NM_001128147,NG_009018,AB195812,AB195813,AC004222,AC079915,AC134669,AC135724,AC138207,AC139072,AY796305,CH471147,M38116,U17084,U17656,U17659,U17662,U17668,U17673,U17677,U17690,X73654,Y07853,AB209336 BAD92573,BAF82625,BAG63383,BAG63453,CAD97858,BAA01371,BAA02150,BAA07669,AAA74897,AAB59558,AAA59928,AAA59921,AAA59922,AAA59923,AAA59924,AAA59925,AAB24636,P21359,Q14180,Q4W6X4,Q59FX3,Q7Z3J5,Q9UMU3,NP_001035957,NP_000258,NP_001121619,BAD98998,BAD98999,AAV50004,EAW80267,EAW80268,EAW80269,EAW80270,EAW80271,EAW80272,EAW80273,EAW80274,EAW80275,AAA18483,AAA56765,AAB48373,AAB48374,AAB48375,AAB48376,AAB48377,AAB48378,AAB48379,AAB48380,CAA52021,CAA69179,Q14931 Hs.113577 DKFZp686J1293|FLJ21220|NFNS|VRNF|WSS OTTHUMP00000166089|neurofibromatosis 1|neurofibromatosis-related protein NF-1|neurofibromin|neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) protein-coding 1344752 NF1L1 neurofibromin 1-like 1 (pseudogene) 10830953,7926815 4764 NG_009867,AP001634,D26141 NF1L1 pseudo 1352926 NF1L2 neurofibromin 1-like 2 8825634 401007 NG_007888,AC009477,AC131180,U35697 NF1L2 pseudo 1348793 NF1L3 neurofibromin 1-like 3 4766 1344267 NF1L4 neurofibromin 1-like 4 14702039,12508121,10591208,8825634 100419029 NG_007891,AL512624,CR383656,U35690 P0C859 NF1L4|NF1L6 pseudo 1353614 NF1L5 neurofibromin 1-like 5 16177791,8825634 4768 U35688,U35689,NG_007889,AC006557,AP001004 P0C868 NF1L5 pseudo 1350949 NF1L6 neurofibromin 1-like 6 14702039,12508121,10591208,8825634 644637 NG_007890,AP000531,AP000532,U35692 NF1L4|NF1L6 pseudo 2293600 NF1L7 neurofibromin 1-like 7 100158257 AL512310,AL929601,NG_007892 NF1L7 pseudo 1350437 NF1P1 neurofibromin 1 pseudogene 1 8825634,8264676,1505963 440225 NR_028506,AC183089,AC060814,X72619,M84131 Hs.722451 NF1HHS pseudo 4107153 NF1P2 neurofibromin 1 pseudogene 2 100288078 AC183089 pseudo 731858 NF2 neurofibromin 2 (merlin) This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq] 2315000,2315002,1624321,1580863 11256614,17509819,18029348,19451225,19451229,19615732,19687056,19778867,19924781,19968670,20002454,20009918,20054297,20178741,20379614,19144871,19142715,19029950,18953429,18923024,18835652,18822692,18808065,18766994,18725387,18670066,18632626,18445079,18361411,18332868,18285426,18173316,18072270,18071304,18033041,17989580,17868749,17655741,17566081,17509660,17478763,17470137,17222329,17081983,16885985,16824698,16786152,16652148,16612978,20682713,20553997,17353411,9537418,17210637,12444102,8379998,10861283,10401006,19351817,19328320,16537381,16532029,16497727,16007223,15980114,15824172,15797715,15743831,15699051,15635074,15609345,15598747,15580288,15541357,15489334,15467741,15461802,15378014,15190457,15146197,15123692,14981079,14724586,14702039,14612918,14580336,14566860,13679444,12896975,12695331,12684666,12665675,12478663,12477932,12471027,12444101,12356905,12226091,12217955,12191989,12118253,11856822,11839955,11836375,11827459,11719502,11535133,11432873,11380622,11285248,10669747,10591208,10220142,10090912,10036239,9817927,9748471,9486775,9430655,9399891,9330869,8889548,8791482,8757035,8655144,8566958,8453669,8230593,8162073,8162072,8081368,8069299,8069298,8012353,8004107,7951231,7913580,7868131,7798645,7666400,7485397,1456285,16282498,17891137,12446789,10675333,9703963,20195187,20445339 2315000,2315002,1624321 4771 NM_181832,NM_016418,NM_000268,NM_181833,NM_181829,NM_181828,AF369668,AF369700,AF369701,AF369702,AF369703,AK092306,AK092515,AK297116,BC003112,BC007279,BC007336,BC010060,BC020257,BC071653,CF138178,CN419318,CR456530,CR595612,EF517524,L11353,L27065,S73853,S73854,S73856,Z22664,AF369667,NM_181830,NM_181825,NM_181831,NG_009057,AC004882,AC005529,AF165426,CH471095,X72655,X72670,Y18000,AF113694,AF122827,AF122828,AF123570,AF369657,AF369658,AF369661,AF369662,AF369663,AF369664,AF369665,AF369666 NP_861970,NP_057502,NP_000259,NP_861971,NP_861967,AAK54195,AAK54196,BAH12502,AAH03112,AAH20257,CAG30416,ABP73252,AAA36212,AAA62422,AAB31736,AAB31737,AAB31738,CAA80377,NP_861968,NP_861546,NP_861969,AAF80764,EAW59814,EAW59815,EAW59816,EAW59817,EAW59818,EAW59819,EAW59820,EAW59821,EAW59822,EAW59823,EAW59824,EAW59825,EAW59826,EAW59827,EAW59828,EAW59829,EAW59830,EAW59831,EAW59832,EAW59833,NP_861966,CAA76992,CAA76993,AAF29587,AAD48752,AAD48753,AAD48754,AAK54160,AAK54161,AAK54162,AAK54163,AAK54164,AAK54165,AAK54166,CAA51220,P35240,Q16230,Q16231,Q16233,Q7KZ66,Q9NRW8,Q9P1N4,CAK54561,CAK54860,ABM82623,ABM85804 Hs.187898 ACN|BANF|SCH OTTHUMP00000199607|merlin|moesin-ezrin-radixin like|moesin-ezrin-radixin-like protein|moesin-ezrin-radizin-like protein|neurofibromatosis 2|neurofibromin 2 (bilateral acoustic neuroma)|neurofibromin-2|schwannomerlin|schwannomin protein-coding 1348005 NFAM1 NFAT activating protein with ITAM motif 1 The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq] 737633,1580863 12615919,15143214,18295596,18031784,17079331,15489334,15461802,14702039,12693554,12477932 737633 150372 NM_145912,AL022316,CH471095,AK074094,AK097971,AY121370,AY247409,BC038241,CT841509 NP_666017,CAQ10428,EAW60504,EAW60505,BAB84920,AAM83133,AAO91847,AAH38241,CAJ86439,Q8NET5,CAK54645,CAK54944 Hs.436677 CNAIP|FLJ40652|bK126B4.4 NFAT activation molecule 1|NFAT-activating protein with ITAM motif 1|calcinerin/NFAT-activating ITAM-containing protein|calcineurin/NFAT-activating ITAM-containing protein protein-coding 733496 NFASC neurofascin homolog (chicken) This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined. 20588308,17474147,17846150,17405145,16710414,16061393,15491607,15489334,15479642,14702039,12477932,12223548,12168954,11719549,9872452,9572267,1377696,11152476,11470829,11724816,11839274,9804856,8922386,16652168,19666467,20129933,20371806,20379614,9722619,9371782,9110174,8947556,8893017,8672144,8619474 23114 NM_015090,NM_001005388,NM_001005389,NM_001160331,NM_001160332,NM_001160333,AC096675,AL391822,AA514945,AB018299,AB177861,AF054995,AK027553,AK090639,AK097802,AK127424,AK128699,AK172728,AK295291,AK299262,AK308686,BC008124,BC033367,BC035389,BC040674,BC117674,BC137013,BC144454,BC144455,BG702675,BX537841,BX641047,BX641048,CR749402 NP_055905,NP_001005388,NP_001005389,NP_001153803,NP_001153804,NP_001153805,CAI14656,CAI14657,CAI14658,CAI14659,CAI14660,CAI14661,CAI14662,CAI14664,CAI14665,CAI14666,CAI14667,BAA34476,BAD66839,BAB55195,BAG52203,BAG53530,BAC87577,BAG58275,BAG61289,AAH08124,AAI17675,AAI37014,AAI44455,CAD97852,CAH18247,O94856 Hs.13349 DKFZp686P2250|FLJ46866|KIAA0756|NF|NRCAML OTTHUMP00000065316|OTTHUMP00000065319|OTTHUMP00000065322|OTTHUMP00000065323|OTTHUMP00000065324|OTTHUMP00000217079|neurofascin|neurofascin homolog protein-coding 1319318 NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20585028,20685965,21037089,21102462,10377394,15790681,10051678,18606815,18411282,18367666,17440116,17173480,17148781,16782704,16644704,15840767,15173573,14702039,12538727,12482947,12477932,12421765,12379312,12359721,12080349,11936849,11877454,11792870,11780147,11528118,11485737,11233530,11072102,11060450,11046013,10733904,10565538,10048485,19913121,20628086,20677014,19138132,19750013,19886771,20041176,20080774,20237496,20351292 10725 NM_138713,NM_173214,NM_006599,NM_001113178,AC009032,AC012321,CH471092,AB020634,AF089824,AF134870,AF163836,NM_138714,AF346509,AJ005684,AJ243298,AJ243299,AK000312,AK001067,BC089395,BC131509,BC146765,BE737032,U80231,Z97016,AJ005683 NP_619728,NP_619727,NP_775321,NP_006590,NP_001106649,EAW83277,EAW83278,EAW83279,EAW83280,EAW83281,BAA74850,AAD18136,AAD38360,AAD48441,AAK91166,CAC42764,CAC42765,AAI31510,AAI46766,AAD00352,CAB09693,O94916,Q7LA65,Q96QH3,Q9UE63 Hs.371987 KIAA0827|NF-AT5|NFATL1|NFATZ|OREBP|TONEBP NFAT-like protein 1|T cell transcription factor NFAT5|T-cell transcription factor NFAT5|TonE-binding protein|glutamine rich protein H65|nuclear factor of activated T-cells 5|osmotic response element-binding protein|tonicity-responsive enhancer binding protein|tonicity-responsive enhancer-binding protein protein-coding 1346235 NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Five transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq] 1580863 18667424,18462673,18350607,18288635,18156209,18097033,17922653,17693409,17606988,17577925,17237284,17110989,17097050,17082665,16931157,16880514,16874304,16586042,16513293,16473827,16436503,16340127,16280328,16109714,15632146,15466861,15466412,18675896,15117818,12850144,12788643,12482669,12477932,12469121,12427739,12408978,12355451,12351631,12183075,12080349,12021260,11911478,11897999,11877454,11823475,15304486,15229217,10652349,10358178,10089876,10072078,9143705,9075924,8702849,14749367,9506523,10821850,8202141,19453261,19351910,19233265,19218564,19204004,18772129,18708588,15347678,9072970,7999066,7842733,16260021,7957556,8814265,16690925,16237100,11956293,11448168,11222731,10748182,10618429,9845362,15078178,12884293,12560487,20664054,12521306,1497875,14979875,19019468,19052845,19449179,19460777,19564342,19801542,19900447,19914243,20237496,20379146,20002873,21047202,21055286,19961855,20925194,19913121,20628086 4772 NM_006162,NM_172388,NM_172390,NM_172387,NM_172389,AC018445,AC023090,CH471117,AA679278,AK292641,AK293760,BC033848,BC045628,BC104753,BC112243,BC143457,BF515172,CR615430,EU887559,EU887560,EU887561,EU887562,EU887563,EU887564,EU887565,EU887566,U08015,U59736,U80917,U80918,U80919,HI574302,HI574304,HI574306,HI574308,HI574310 NP_006153,NP_765976,NP_765978,NP_765975,NP_765977,EAW66617,EAW66618,EAW66619,EAW66620,EAW66621,EAW66622,BAF85330,BAG57179,AAI04754,AAI12244,ACG55579,ACG55580,ACG55581,ACG55582,ACG55583,ACG55584,ACG55585,ACG55586,AAA19601,AAC50869,AAD00450,AAD00451,AAD00452,O95644,Q2M1S3,CBX47640,CBX47641,CBX47642,CBX47643,CBX47644 Hs.534074,Hs.701518 MGC138448|NF-ATC|NFAT2|NFATc NF-ATc1|NFAT transcription complex cytosolic component|OTTHUMP00000163813|nuclear factor of activated T-cells, cytoplasmic 1 protein-coding 1317023 NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1627651,1579951,1580863 18029348,18675896,19318479,19564342,19833725,19843528,19900447,20097868,20219685,20237496,20379146,20379614,16873067,15790681,8668213,19458075,19318584,19286996,19192391,18973208,18962896,18931684,18710929,18676376,18641302,18246125,18218901,18097033,17882263,17785820,17711847,17588603,17584983,17463169,17398070,17237447,16888000,16849457,16690925,16505480,16497967,16473827,16455648,15897878,15857835,15668245,15632146,15471864,15347678,15292278,15271374,15184502,15144186,15121840,15117942,14657699,12949493,12788643,12594826,12560487,12482669,12477932,12453415,12093869,12021260,11982754,11956291,11932239,11911478,11877454,11780052,11438213,11356192,11231878,11030334,10944115,10821850,10737800,10611249,10207088,10089876,9660947,9625762,9510247,9498773,9143705,9111316,8943202,8889548,8834464,8397339,8202141,7999066,7887301,7842733,7757816,7650486,16260021,7957556,8814265,9845362,16169070,17082665,17237388,17875758,20557936,20609354,20368097,19505873,20367554,21047202,20448330,20834230,19913121,20628086,20677014,20093726 1627651,1579951 4773 NM_001136021,NM_173091,NM_012340,AF484568,EU887576,EU887577,EU887578,EU887579,EU887580,U43341,U43342,Z36756,EU887575,AL035682,AL035684,AL132866,CH471077,AK226146,AK304147,BC136418,BC144074,BF914609,BM463165,BU429325,CD300621,CF136470,CR993438,EU887573,EU887574 NP_001129493,NP_775114,NP_036472,ACG55595,ACG55596,ACG55597,ACG55598,ACG55599,ACG55600,AAC50886,AAC50887,Q13469,ACG55594,CAI18852,CAI18853,CAI19205,CAI19206,CAC00528,CAI23549,EAW75602,EAW75603,BAH14117,AAI36419,AAI44075,ACG55593 Hs.713650 NFAT1|NFATP NF-ATc2|NFAT pre-existing subunit|NFAT transcription complex, preexisting component|T cell transcription factor NFAT1|T-cell transcription factor NFAT1|nuclear factor of activated T-cells, cytoplasmic 2|nuclear factor of activated T-cells, preexisting component|preexisting nuclear factor of activated T-cells 2 protein-coding 1349771 NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 737633,1580863 20410506,17081983,16964243,15489334,14702039,12477932,8943202,15698469 737633 84901 NM_032815,AC109460,CH471267,CQ783653,AF458593,AK027545,AK074761,AK094764,AL043335,BC010161,BC018311,BC021551,BC068007,BC080628,BC101741,BC112182,AK297333,AK304172,AK304606,AK316535 NP_116204,EAW52014,EAW52015,CAF86795,AAM49721,BAB55189,BAC11189,AAH18311,AAH21551,AAH68007,AAH80628,AAI01742,AAI12183,Q8NCF5,BAH12551,BAH14125,BAH14223,BAH14906 Hs.513470 ESC2|FLJ14639|MGC126790|MGC138387|NIP45|RAD60 45 kDa NF-AT-interacting protein|45 kDa NFAT-interacting protein|NFATC2-interacting protein|nuclear factor of activated T-cells, cytoplasmic 2-interacting protein protein-coding 1318613 NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1581961,1579951,1579956 20237496,18029348,21047202,7739550,7749981,18815128,18676376,18675896,17035332,16445977,16260608,15489334,15173172,14702039,12788643,12671993,12482669,12477932,12417987,11997392,11877454,10493829,10089876,9759864,9660947,9630228,9498773,9374467,9143705,9121455,7999066,16260021,7957556,8814265,16690925,19913121,20628086 1581961,1579951,1579956 4775 EU887615,EU887616,EU887617,EU887618,EU887619,EU887620,EU887621,EU887622,EU887623,EU887624,EU887625,L41067,U14510,U85428,U85429,U85430,NM_004555,NM_173163,NM_173165,NM_173164,AC020978,AC130462,CH471092,AB209824,AK057574,AK290370,BC001050,BE350846,EU887605,EU887606,EU887607,EU887608,EU887609,EU887610,EU887611,EU887612,EU887613,EU887614,BU849493,CA418693 ACG55635,ACG55636,ACG55637,ACG55638,ACG55639,ACG55640,ACG55641,ACG55642,ACG55643,ACG55644,ACG55645,AAA79174,AAA86308,AAB46595,AAB46596,AAB46597,Q12968,Q59EI7,ABM86310,ACG55634,NP_004546,NP_775186,NP_775188,NP_775187,EAW83210,EAW83211,EAW83212,EAW83213,BAD93061,BAF83059,AAH01050,ACG55625,ACG55626,ACG55627,ACG55628,ACG55629,ACG55630,ACG55631,ACG55632,ACG55633 Hs.436585,Hs.632209 NFAT4|NFATX NF-AT4|NF-ATc3|T cell transcription factor NFAT4|T-cell transcription factor NFAT4|nuclear factor of activated T-cells c3 isoform IE-Xa|nuclear factor of activated T-cells, cytoplasmic 3 protein-coding 1321836 NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family of nuclear factors of activated T cells also participate in the formation of this complex. The product of this gene plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of the IL-2 and IL-4. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 1580248,1580863,1579951 7749981,18675896,18668201,18034994,17875713,17213202,17194453,17081983,16645724,16489119,16344560,16219765,12939651,12788643,12787506,12482669,12477932,11997522,11877454,11514544,11439183,10611249,10089876,9660947,9568714,9143705,7999066,16260021,7957556,8814265,16690925,18029348,21047202,19653005,19784808,20101218,20237496,20881960,17044076,19913121,20628086,20653821 1580248,1579951 4776 CR597112,CR607958,CR607836,NM_004554,AL096870,CH471078,AK293185,AK293873,AK300450,AK302271,AK309339,AK310433,AK310445,AK311078,AK311425,BC008857,BC037735,BC053855,NM_001136022,DC318153,EU887632,EU887633,EU887634,EU887635,EU887636,EU887637,EU887638,EU887639,EU887640,EU887641,EU887642,EU887643,EU887644,EU887645,EU887646,EU887647,EU887648,EU887649,EU887650,EU887651,EU887652,EU887653,EU887654,EU887655,L41066,DB372155,NM_001198965,NM_001198966,NM_001198967 NP_001129494,NP_004545,EAW66020,BAG56726,BAG57262,BAG62171,BAG63617,AAH08857,AAH53855,ACG55652,ACG55653,ACG55654,ACG55655,ACG55656,ACG55657,ACG55658,ACG55659,ACG55660,ACG55661,ACG55662,ACG55663,ACG55664,ACG55665,ACG55666,ACG55667,ACG55668,ACG55669,ACG55670,ACG55671,ACG55672,ACG55673,ACG55674,ACG55675,AAA79175,Q14934,ABZ92167,NP_001185894,NP_001185895,NP_001185896 Hs.77810 NF-ATc4|NFAT3 NF-AT3|T cell transcription factor NFAT3|T-cell transcription factor NFAT3|nuclear factor of activated T-cells, cytoplasmic 4 protein-coding 1315759 NFE2 nuclear factor (erythroid-derived 2), 45kDa 1580863 16169070,19820697,19901266,19966288,20236933,9305852,11863372,8355703,7774011,18029348,18718448,16763211,16287851,15489334,14966463,12805554,12509425,12490281,12477932,12196550,11154691,9753456,9166829,9150357,8248255,8107826,7724591,1569944,20211142,8816476,20339092 4778 NM_001136023,NM_006163,AC078778,CH471054,DQ367844,AK290555,AK290564,AK313207,BC005044,BT007288,CR450284,CR590660,CR610867,CR620089,CR621458,L13974,L24122,S77763 NP_001129495,NP_006154,EAW96771,EAW96772,EAW96773,ABC79302,BAF83244,BAF83253,BAG36023,AAH05044,AAP35952,CAG29280,AAA35612,AAA16118,AAB34115,Q16621,ABM84363,ABM87795,ABW03868 Hs.75643 NF-E2|p45 leucine zipper protein NF-E2|nuclear factor, erythroid-derived 2 45 kDa subunit|p45 NF-E2|transcription factor NF-E2 45 kDa subunit protein-coding 1323705 NFE2L1 nuclear factor (erythroid-derived 2)-like 1 This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq] 1580863 20237496,9826775,8248256,9501099,17609210,16806233,16344560,15489334,12805554,12729924,12477932,12358155,9872330,9421508,9150357,8932385,8889548,8036168,8001966,7557987,20932482,11025215,20385086,20211142,20935630 4779 X77366,NM_003204,AC004477,CH471109,X84060,X84061,X84062,X84063,X84064,X84065,X84066,AK090459,AK294553,AK302387,AL833530,BC010623,BC131769,BM983473,BX647976,DA230932,DB097304,L24123,U08853 CAA54555,Q14494,Q8NF22,ABM84234,ABM85170,NP_003195,EAW94762,EAW94763,EAW94764,EAW94765,EAW94766,EAW94767,BAC03440,BAG57756,BAG63703,AAH10623,AAI31770,AAA20466 Hs.514284 FLJ00380|LCR-F1|NRF1|TCF11 NF-E2-related factor 1|NFE2-related factor 1|TCF-11|locus control region-factor 1|nuclear factor erythroid 2-related factor 1|nuclear factor, erythroid derived 2, like 1|transcription factor 11 (basic leucine zipper type)|transcription factor HBZ17|transcription factor LCR-F1 protein-coding 734431 NFE2L2 nuclear factor (erythroid-derived 2)-like 2 NFE2 (MIM 601490), NFE2L1 (MIM 163260), and NFE2L2 comprise a family of human genes encoding basic leucine zipper (bZIP) transcription factors. They share highly conserved regions that are distinct from other bZIP families, such as JUN (MIM 165160) and FOS (MIM 164810), although remaining regions have diverged considerably from each other (Chan et al., 1995 [PubMed 7868116]).[supplied by OMIM] 1580863 16314513,16888629,17462537,17822677,19254160,19321346,19345732,19417020,19484125,19489739,19538980,19558496,19573594,19575798,19576171,19608619,19614772,19618868,19643729,19668370,19669099,19671143,19706542,19715681,19720220,19720622,19723058,19751820,19808663,19821532,19822148,19844581,19844776,19889935,19901266,19934254,19948975,20011043,20026169,20053997,20061377,20064547,20064636,20068043,20089859,20103708,20142043,20185790,20196834,20229611,20368435,20378532,20421815,20507872,20534903,20428777,7937919,19478192,19424503,19273602,19272177,19182219,19158945,19138946,18981090,18846238,18838122,18829555,18813798,18802114,18757741,18756969,18692501,18622263,15734732,15601839,15525690,15489334,15358217,15282312,15020583,14985350,14565864,14529549,14517554,14517290,12947090,12805554,12556532,12506115,12490281,12477932,12446695,12441344,12435735,12370194,12198130,12145307,12084707,12084617,12020345,11683914,11439354,11274184,11256947,11035812,11013233,10930400,10747902,10510468,10419538,9887101,9872330,9150357,7868116,18358244,18417180,15901726,15572695,18029348,20211142,20805228,20534738,20664557,20118824,20216230,20347035,20427290,20452971,15367669,20887713,17603223,17562481,17384144,17259171,17234762,17145701,17143558,17109620,17077087,17065227,17020408,16951152,16950787,16923960,16857669,16790425,16716189,16551619,16551616,16545679,16507366,16478829,16344560,16339837,16325767,16308312,16220540,16177082,16137655,16123320,16092930,16038408,16000310,15964514,15944151,15923610,15917255,15917227,18613447,18613373,18585411,18572023,18566994,18566336,18556627,18537816,18467642,18444152,18434303,18424257,18413364,18404535,18372916,18353146,18316592,18261463,18240569,18238777,18202225,18172853,18162601,18156441,18097597,18074351,18049112,18038766,18036733,17982693,17925401,17875699,17875642,17822364,17726138,17673673,17636022,17609210,17606720,20452972,20062840,20395535,20421418,20440267,20309604,20418481,20681784,20806931,20956535,20175229,20175230,20175231,20175232,20707922,15983046,15985429,20682644,20511222,20595649,20516531,20608163,20644561,20647061,20718723,20805158 4780 NM_001145413,AC079305,CH471058,AB208786,AF323119,AK297838,AK304555,AK310656,AK310841,AK311395,AK311688,AK314816,AK316148,BC011558,BX649047,BX649071,CR619801,CV575212,DA436387,DC314553,S74017,NM_006164,NM_001145412,HM446346 ACT64362,NP_001138885,AAY14710,EAX11061,EAX11062,BAD92023,AAK01657,BAG60172,BAG65350,BAG37339,BAH14519,AAH11558,AAB32188,Q16236,Q9BZF8,ABZ92168,ACE87432,ACE86746,ACE87835,NP_006155,NP_001138884,ADK56055 Hs.661872 NRF2 HEBP1|NF-E2-related factor 2|NFE2-related factor 2|OTTHUMP00000205251|OTTHUMP00000207980|nf-e2-related factor 2|nuclear factor erythroid 2-related factor 2|nuclear factor erythroid-derived 2-like 2|nuclear factor, erythroid derived 2, like 2 protein-coding 1317092 NFE2L3 nuclear factor (erythroid-derived 2)-like 3 This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq] 1580863 19913121,20628086,10037736,19047052,17976382,15489334,15388789,15385560,12853948,12477932,11286316,9847074,20237496,20379614,20935629 9603 AC004520,AF135116,CH236948,CH471073,AA603252,AB010812,AF125534,AF133059,AF134891,BC008645,BC015336,BC035762,NM_004289,BC049219,BC056142,BC068455,BX396198,CR595336,CR626323 NP_004280,AAP22344,AAF61415,EAL24236,EAW93833,BAA76288,AAF17228,AAG43275,AAF61404,AAH15336,AAH49219,AAH56142,AAH68455,Q96BQ9,Q9UHQ8,Q9Y4A8 Hs.404741,Hs.712898 NRF3 NF-E2-related factor 3|NFE2-related factor 3|nuclear factor erythroid 2-related factor 3|nuclear factor, erythroid derived 2, like 3|nuclear factor-erythroid 2 p45-related factor 3|nuclear factor-erythroid 2-related factor 3 protein-coding 4144486 NFE2L3P1 nuclear factor (erythroid-derived 2)-like 3 pseudogene 1 642996 AC090377,NG_011711 pseudo 69144 NFIA nuclear factor I/A Nuclear factor I (NFI) proteins constitute a family of dimeric DNA-binding proteins with similar, and possibly identical, DNA-binding specificity. They function as cellular transcription factors and as replication factors for adenovirus DNA replication. Diversity in this protein family is generated by multiple genes, differential splicing, and heterodimerization.[supplied by OMIM] 1580863 7590749,15684392,17530927,17081983,17010934,16710414,16325577,15598822,15466411,14702039,12477932,12107410,10718198,10518556,10085123,15302935,15146197,18029348,19540848,19542302,20190752,20379614,15458926,21076409,19913121,20628086 4774 AF086381,AI799785,AK024964,AK096483,AK299289,AK299356,AK299579,AL133665,AW014151,BC022264,BX537823,CA398137,CA411638,CN372139,DB544485,U07809,NM_001145511,NM_001145512,NM_001134673,NM_005595,NG_011787,AC092784,AC096534,AC096947,AL096888,AL445198,AL445432,CH471059,AA974652,AB037860 BAA92677,BAG61305,BAG61351,BAG61515,CAH56387,AAH22264,AAA93124,Q12857,Q659D5,ABM84176,ABM87578,NP_001138983,NP_001138984,NP_001128145,NP_005586,CAI23237,CAI23238,CAI23240,CAI23241,CAI23242,CAI13079,CAI13080,CAI13081,CAI13082,CAI13083,EAX06601,EAX06602,EAX06603,EAX06604 Hs.710546,Hs.726047 DKFZp434L0422|DKFZp686J23256|FLJ39164|KIAA1439|NFI-L CCAAT-box-binding transcription factor|CTF|NF-I/A|NF1-A|NFI-A|OTTHUMP00000010071|OTTHUMP00000010293|OTTHUMP00000010294|OTTHUMP00000010295|TGGCA-binding protein|nuclear factor 1 A-type|nuclear factor 1/A protein-coding 733820 NFIB nuclear factor I/B 1580863 7590749,18029348,18809517,18663748,17511965,15489334,14702039,12639247,12477932,9484777,9099724,12624117,19837271,16344560,19841262,19913121,20628086 4781 NM_005596,AL136366,AL441963,AL449443,CH471071,AF022215,AK094066,AK129782,AK131233,AK290603,AK299605,AL110126,BC001283,BC024316,BT007266,BX537698,BX537707,BX648416,BX648845,CD251577,CR603516,CR615112,CR619603,DA783871,U07810,U70862,U85193,AI140312,DA785516,NM_001190737,NM_001190738,AL137017 NP_005587,CAH73583,CAH73584,CAH73585,CAH73586,CAH73587,CAH73588,CAH71969,CAH71970,CAH71972,CAH71973,EAW58694,EAW58695,EAW58696,EAW58697,EAW58698,EAW58699,AAB82594,BAD18416,BAF83292,BAG61536,AAH01283,AAP35930,CAH56156,AAA93125,AAB51197,AAB41899,O00712,Q5VW27,Q5VW28,Q5VW30,Q5VW31,Q5W0Y9,Q63HM5,Q6ZNF9,ABM82023,ABM85205,ACE87491,ACE86804,NP_001177666,NP_001177667,CAH71971,CAH71974 Hs.644095 HMGIC/NFIB|NFI-RED|NFIB2|NFIB3 CCAAT-box-binding transcription factor|CTF|NF-I/B|NF1-B|NFI-B|OTTHUMP00000022769|TGGCA-binding protein|nuclear factor 1 B-type|nuclear factor 1/B protein-coding 69148 NFIC nuclear factor I/C (CCAAT-binding transcription factor) 20145151,10085123,10327073,19706729,19752192,19755487,20379614,7961993,9417094,1524678,18809517,18775869,18765927,18421093,17936922,17186943,17081983,16847321,15999204,15489334,15302935,15057824,14684846,12477932,12221105,8710515,8628270,7590749,3398920,9099724,12624117,16189514,20881960 4782 NM_205843,NM_005597,AC005514,AC005551,AC005778,AC007792,AC093077,AC104104,CH471139,AK289885,AK297825,AK297867,AK304816,AL042511,BC012120,BE887429,BI253961,BQ894051,CR536507,CR613340,X12492,X92857 NP_995315,NP_005588,AAC32593,AAC32594,AAC33190,AAC33191,AAC33192,AAC62842,EAW69323,EAW69324,EAW69325,EAW69326,BAF82574,BAH12672,BAH12681,AAH12120,CAG38745,CAA31012,CAA63440,P08651,Q6FI30,ABM84581,ABM86721,BAH14259 Hs.170131 CTF|CTF5|MGC20153|NF-I|NFI CCAAT-binding transcription factor|CCAAT-box-binding transcription factor|NF-I/C|NF1-C|NFI-C|TGGCA-binding protein|nuclear factor 1 C-type|nuclear factor 1/C|nuclear factor i/c protein-coding 1345604 NFIL3 nuclear factor, interleukin 3 regulated Expression of interleukin-3 (IL3; MIM 147740) is restricted to activated T cells, natural killer (NK) cells, and mast cell lines. Transcription initiation depends on the activating capacity of specific protein factors, such as NFIL3, that bind to regulatory regions of the gene, usually upstream of the transcription start site (Zhang et al., 1995 [PubMed 7565758]).[supplied by OMIM] 1580863 1620116,7565758,19129193,19058789,18937294,18829486,16630563,12743120,12477932,10942106,9122243,8836190,8076819,20186462,12805554,18029348,19693801,19839995,20174623,20379614,17207965 4783 NM_005384,AL353764,EF028070,AK313970,AW163045,BC008197,BQ937243,CR542049,CR599259,CR608714,CR614563,S79880,U26173,X64318,CH471089,HM204564 NP_005375,EAW62796,EAW62797,ABK15691,BAG36685,AAH08197,CAG46846,AAB35410,AAA93067,CAA45597,Q16649,ABM82031,CAH73854,ADK11690,ADQ31769 Hs.79334 E4BP4|IL3BP1|NF-IL3A|NFIL3A E4 promoter-binding protein 4|OTTHUMP00000021633|interleukin-3 promoter transcriptional activator|interleukin-3-binding protein 1|nuclear factor interleukin 3 regulated protein|nuclear factor interleukin-3-regulated protein|transcriptional activator NF-IL3A protein-coding 69161 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 1580863 19706729,20150379,7937100,19418463,18754024,16928756,16565071,15057824,12624117,12477932,11068044,11046146,10636857,9380514,9099724,9079676,8799200,8340106,7590749,11896613,19416921,20673863 4784 FJ861276,NM_002501,AC004660,AC007787,AC022152,AC138474,CH471106,AK295290,AK297261,BC036885,BC117113,BC117115,BF115883,BT019732,BX537794,L31881,U07811,U18759,U18760,U18761 ACV82593,NP_002492,AAC15752,AAD38240,AAD38241,EAW84338,EAW84339,EAW84340,EAW84341,EAW84342,BAG58274,BAG59737,AAI17114,AAI17116,AAV38537,CAD97845,AAA53422,AAA93126,AAB52369,AAB52370,AAB52371,Q13051,Q14938,Q7Z3K7,ADR83159 Hs.257970 NF1A CCAAT-box-binding transcription factor|CTF|NF-I/X|NF1-X|NFI-X|TGGCA-binding protein|nuclear factor 1 X-type|nuclear factor 1/X|nuclear factor i/x protein-coding 730892 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. [provided by RefSeq] 2292172,2298900,2302394,1581122,1580656,1581123,1581124,1580863 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2292172,2298900,2302394,1581122,1580656,1581123,1581124 4790 AI076882,NM_001165412,AC021120,AF213884,AY223820,CH471057,Z47748,AK122850,AK291450,BC033210,BC051765,BQ023914,CR749522,NM_003998,M55643,M58603 NP_001158884,AAF35232,AAO30127,EAX06134,EAX06135,EAX06136,CAB94757,BAG53760,BAF84139,AAH33210,AAH51765,NP_003989,CAH18336,AAA36361,AAA36360,P19838,ABZ92169 Hs.618430 DKFZp686C01211|EBP-1|KBF1|MGC54151|NF-kappa-B|NF-kappaB|NFKB-p105|NFKB-p50|p105|p50 DNA binding factor KBF1|DNA-binding factor KBF1|NF-kappabeta|OTTHUMP00000219572|nuclear factor NF-kappa-B p105 subunit|nuclear factor NF-kappa-B p50 subunit|nuclear factor kappa-B DNA binding subunit protein-coding 1316230 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) NFKB has been detected in numerous cell types that express cytokines, chemokines, growth factors, cell adhesion molecules, and some acute phase proteins in health and in various disease states. NFKB is activated by a wide variety of stimuli such as cytokines, oxidant-free radicals, inhaled particles, ultraviolet irradiation, and bacterial or viral products. Inappropriate activation of NF-kappa-B has been linked to inflammatory events associated with autoimmune arthritis, asthma, septic shock, lung fibrosis, glomerulonephritis, atherosclerosis, and AIDS. In contrast, complete and persistent inhibition of NF-kappa-B has been linked directly to apoptosis, inappropriate immune cell development, and delayed cell growth. For reviews, see Chen et al. (1999) [PubMed 9895331] and Baldwin (1996) [PubMed 8717528].[supplied by OMIM] 2292172,2302394,2302392,1580863,2298775 20598117,11239468,11160671,11044099,10823818,10799874,10671224,10644726,10644332,10597218,10580107,10562553,10480634,10446807,10400814,10393859,10384093,10225209,10207088,9895331,9792375,9730685,9566873,9525916,9510190,9384586,9315679,9278385,9110146,8887665,8834464,8724035,8717528,8709193,8676466,8627654,8615004,8453667,8413211,8207793,8152812,8113688,8108136,8036016,7969113,7949142,7859743,7838536,7823959,7800480,7729429,7690421,7541912,7494249,1612589,1583734,1531086,1505523,1473734,17197385,15103018,15258149,18617892,14678988,7933095,15469820,9135156,12917325,15799966,16385451,17183367,18025803,19573080,19591173,19773279,19860880,19948975,20037209,20038584,20346360,20353939,20388792,20448286,20503287,8441377,11526476,16108830,1876189,1760839,8360178,9407099,15677444,10723127,19527514,19524538,19258923,19219072,19098713,18818748,18781579,18660489,18550535,18466468,18434448,18383001,18377428,18321863,18025196,17715223,17703412,17548614,17476277,17363471,17292587,17237370,17028057,17003035,16990795,16940298,16751281,16651533,16368877,16344560,16303288,16260623,16223731,15782119,15677466,15489334,15485830,15310758,15164054,15140882,14743216,14676825,14532284,12927781,12894228,12808109,12524526,12505990,12485413,12482669,12477932,12473373,12427593,12389034,12352969,12185077,12167619,12040437,11994270,11980335,11833470,11827962,11707390,11704662,11579140,11522182,12874295,11511100,12835724,11468175,11385624,11299302,11241736,15276183,18029348,19913121,20628086,20628624,20211142,20568250,20734064 2292172,2302394,2302392,2298775 4791 AAB23437 BT009769,BY799958,DA408461,DA711063,S76638,U09609,X61498,X61499,NM_001077493,NM_001077494,NM_002502,AL121928,AY865619,CH471066,U20816,AK098415,AK292654,BC002844,HI573866,HI573868,HI573870 AAP88771,AAB21124,AAA21462,CAA43715,CAA43716,AAB23437,Q00653,NP_001070961,NP_001070962,NP_002493,CAC08399,AAW56071,EAW49700,EAW49701,EAW49702,EAW49703,EAW49704,EAW49705,EAW49706,AAA68171,BAF85343,AAH02844,CBX47422,CBX47423,CBX47424 Hs.73090 LYT-10|LYT10|p52 DNA-binding factor KBF2|H2TF1|OTTHUMP00000020371|lymphocyte translocation chromosome 10 protein|nuclear factor NF-kappa-B p100 subunit|nuclear factor of kappa light chain gene enhancer in B-cells 2|oncogene Lyt-10 protein-coding 735440 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 2292172,2298893,2298898,2298894,2298895,2298905,2298900,1580863 16098527,19219072,20546338,10498867,10733566,11931770,15173580,15601829,15657065,16195219,16286467,16291755,16319058,16997282,17060341,17318178,17612295,17956732,18199400,19296948,19456861,19543524,19591507,19673747,19733238,19758175,19773279,19773451,19797428,19816602,19879840,19886988,19891769,19941056,19948975,20056178,20068069,20080849,20132559,20164548,20193848,20304615,20335171,20379146,20379614,20448286,20453000,20495844,20503287,8246997,7739562,16951195,1493333,9859996,10747850,16938301,3140380,10723127,7679069,19573080,19554506,19527514,19522780,19507254,19500386,19453261,19363678,19297320,19258923,19223558,19213954,19187648,19046417,19019440,18981184,18950845,18818748,18716880,18660489,18636537,18636124,18606063,18600435,18555796,18515365,18511071,18474597,18434448,18356846,16407234,16258173,16189514,16105840,16046415,15979856,15858823,15811852,15671028,15613239,15536134,15489334,15389633,15389589,15337789,15330761,15247916,15202778,15184376,15173174,15161102,15125834,15073126,15068390,14961554,14743216,14685242,14623898,14576361,14561767,14523047,13680285,18215193,18071880,17991436,17942396,17910475,17703412,17701919,17681786,17607549,17593226,17492467,17463416,17354114,17351338,17333217,17318773,17316064,17307728,17284228,17148610,17115186,17062574,17003112,16955245,16931600,16919536,16756995,16737960,18260825,16540234,16426569,12972430,12944982,12921778,12897149,12748192,12711606,12704657,12651903,12620896,12589049,12518988,12477932,12433922,12429743,12419806,12406554,12388747,12377412,12297126,12244195,12193729,12167702,12086926,12084717,12028809,11983170,11913973,11809792,11799106,11696595,11511100,11493922,11313474,11287411,11278695,11106428,11095741,11042193,10969074,10928981,10882136,10869418,10848576,10783893,10657303,10655476,10644755,10637284,10635328,10582246,10580107,10521480,10480634,10421793,10398585,10393859,10329681,10102628,10085062,10026139,9990853,9892650,9882613,9873017,9865694,9865693,9792645,9738011,9734360,9721103,9566883,9452483,9409737,9372968,9334723,9252186,9244310,9214631,9060679,8940099,8889548,8797825,8709193,8657102,8622692,8615004,8601309,7878004,7700645,7565415,7479976,1829648,1427874,16429138,15103018,11959143,16001969,15817944,15725353,15142381,12419805,18503636,10023675,9891086,9751059,9346485,10094049,11533489,8139561,10706725,16169070,10362352,15856023,15782119,14534291,12477728,9135156,15746428,15808510,15084260,15218148,18029348,20568250,20716621,20811626,20953189,20953190,21048031,20385620,20797629,12973300,20388715,20696864,15276183,16371367,20652762,19913121,20563630,20628086,20628624,20659425,20674643,19798070,16648481 2292172,2298893,2298898,2298894,2298895,2298905,2298900 4792 NG_007571,AJ249290,AJ249294,AL133163,AY496422,CH471078,AK311515,AK313421,AY033600,BC002601,BC004983,BT007091,BU737609,CR589981,CR591996,CR592525,CR593002,CR594547,CR595601,CR596344,CR600730,CR603242,CR604111,CR606719,CR610344,CR610623,CR612243,CR613814,CR615977,CR617669,CR618438,CR621120,CR623392,CR626144,M69043,NM_020529,CS542431,HI574170 NP_065390,CAB65113,CAB65556,AAR29599,EAW65875,BAG36213,AAK51149,AAH02601,AAH04983,AAP35754,AAA16489,P25963,Q9UGJ5,CAM91165,CBX47574 Hs.81328 IKBA|MAD-3|NFKBI I-kappa-B-alpha|IkappaBalpha|NF-kappa-B inhibitor alpha|ikB-alpha|major histocompatibility complex enhancer-binding protein MAD3|nuclear factor of kappa light chain gene enhancer in B-cells|nuclear factor of kappa light chain gene enhancer in b-cells inhibitor, alpha protein-coding 732611 NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008, or NFKBIB), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664 or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 1580863,2292172 19948975,20056178,20448286,15601829,7776974,10723127,19527514,19500386,19453261,18950638,18818748,18636124,18434448,18356846,17463416,15919917,15489334,15308628,15024091,14743216,14685242,12672800,12651903,12477932,12475944,12424381,12034707,11839392,11511100,10799874,10657303,10580107,10514424,10498867,10480634,9763672,9721103,9689078,9452433,9278383,9252186,9135156,8816457,8709193,8657102,8615004,15103018,9346485,10706725,15276183,19913121,20628086,20140262,20716621,20819778 2292172 4793 NM_002503,NM_001001716,AC011455,AY736284,CH471126,L40407,AB209784,AI684894,AK057862,AK290569,BC007197,BC015528,BM008311,BM449613,BQ440907,BT006743,BU150265,BU634404,CR592567,CR604980,CR618976 ABM92250,ABM84730,NP_002494,NP_001001716,AAU10088,EAW56839,EAW56840,EAW56841,EAW56842,EAW56843,AAC41742,BAD93021,BAB71599,BAF83258,AAH07197,AAH15528,AAP35389,Q15653,Q59EM7,Q96LS1 Hs.9731 IKBB|TRIP9 I-kappa-B-beta|NF-kappa-B inhibitor beta|NF-kappa-BIB|TR-interacting protein 9|TRIP-9|i-kappa-b-beta|ikB-B|ikB-beta|ikappaBbeta|thyroid receptor-interacting protein 9 protein-coding 1603004 NFKBID nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 14702039,12477932 84807 NM_139239,AD000864,AF385433,AF385434,AK126825,BC006273,BC119646,BC119647,CR618036 NP_640332,AAM43834,AAM43835,AAH06273,AAI19647,AAI19648,Q8NI38 Hs.466531 IkappaBNS|MGC11314|MGC149503|TA-NFKBH I-kappa-B-delta|NF-kappa-B inhibitor delta|T-cell activation NFKB-like protein|ikB-delta|ikappaBdelta|t-cell activation nfkb-like protein protein-coding 1352834 NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008 or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine). For some genes, activation requires NFKB interaction with other transcription factors, such as STAT (see STAT6, MIM 601512), AP1 (JUN, MIM 165160), and NFAT (see NFATC1, MIM 600489).[supplied by OMIM] 2292172,1580863 18029348,19170196,19573080,19625176,19692168,19773279,19948975,20056178,20448286,16769727,9135156,19527514,19019335,18818748,18676680,18434448,17976673,17463416,16716191,14743216,14595753,12477932,12361703,11970947,10998424,10706725,9315679,9223487,8415639,8139561,16189514,20140262,20568250,20711808,19913121,20628086 2292172 4794 NM_004556,AF261937,AL139392,AY779755,CH471081,AK130739,AK301360,BC011676,BC063609,BG759212,BX367256,CR599256,CR611091,CR616372,CR625145,U91616 NP_004547,AAM27002,CAI20102,CAI20103,AAV31776,EAX04262,EAX04263,EAX04264,BAC85418,BAH13464,AAH11676,AAH63609,AAC51216,O00221,Q5T9W0,Q6ZNS7,Q7LC14,Q96F31,AAI66665 Hs.458276 IKBE I-kappa-B-epsilon|NF-kappa-B inhibitor epsilon|NF-kappa-BIE|ikB-E|ikB-epsilon|ikappaBepsilon protein-coding 1351897 NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19773279,19851445,19886988,20379614,19143814,18987644,18295675,17855452,17847930,17544510,17517687,17485095,17119950,16804398,16720219,16644022,16634865,16101831,15969671,15843211,15018649,14989711,14574404,12618859,12509789,12477932,11113070,10369924,10202016,9480751,8499947,17353931,8081366,18029348,19242354,19165231,19158815,20568399,19578685,20662065,19913121,20587610,20628086,20854863,20933106 4795 NM_001144962,NM_001144963,NM_005007,NM_001144961,NG_012344,AB088115,AB103621,AB202112,AL662801,AL662847,AL929587,BA000025,BX001040,AK313888,BC105064,BC105068,BC143671,BM044744,CR590712,CR593167,CR601219,CR624850,DC370256,X77909,BX248516,BX927320,CH471081,CR753892,CR942185,Y14768,AF097419,AF097420,AF097421,AF097422,AF097423,AF097424,AF097425,AF097426,AF097427,AF097428,AF097429,AK291893,AK300818 NP_001138434,NP_001138435,NP_004998,NP_001138433,BAC54951,BAF31285,BAE78635,CAI18288,CAI18289,CAI18290,CAI17675,CAI17676,CAI18667,CAI18668,BAB63398,BAG62473,AAI05065,AAI05069,AAI43672,CAA54867,Q5ST96,Q5ST97,Q5STV4,Q5STV6,Q9UBC1,ABZ92040,CAI18642,CAI18643,CAI41932,CAI41933,CAQ09989,CAQ09990,CAQ09991,EAX03417,EAX03418,EAX03419,EAX03420,EAX03421,CAQ06927,CAQ06928,CAQ06929,CAQ07707,CAQ07708,CAQ07709,CAA75072,AAD38108,AAD38109,AAD38110,AAD38111,AAD38112,AAD38113,AAD38114,AAD38115,AAD38116,AAD38117,AAD38118,BAF84582 Hs.2764 IKBL|LST1|NFKBIL I-kappa-B-like protein|NF-kappa-B inhibitor-like protein 1|ikappaBL|inhibitor of kappa B-like protein|inhibitor of kappa light chain gene enhancer in B cells-like protein-coding 1316704 NFKBIL2 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2 The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq] 1580863 20211142,17353931,15146197,14702039,12477932,11246458,7738005,21113133,21055983,21055984,21055985,20485444 4796 AC233992,NM_013432,AC084125,AF205589,AJ249601,CH471162,AB209126,AK097406,BC008782,BF475381,CN366457 NP_038460,CAB63467,EAW82092,EAW82093,BAD92363,AAH08782,Q59GI3,Q96HA7,ABM83620,ABM86863 Hs.675285 FLJ40087|IKBR|NFKBIL2 I-kappa-B-related protein|NF-kappa-B inhibitor-like protein 2|ikappaBR|inhibitor of kappa B-related protein|nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2 protein-coding 1350232 NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 737633 15522867,19798075,19595668,18850010,18813073,18436238,18362142,17447895,16622025,16513645,15618216,15241416,14702039,12565889,12477932,11356851,11278262,16344560,19707556,19783680 737633 64332 NM_001005474,NM_031419,AC020651,CH471052,AB037925,AB074898,AF548362,AK054787,AK091782,BC014587,BC060800,BM050734,DQ224339,AW004900,BX492097,DA541852 NP_001005474,NP_113607,EAW79771,EAW79772,EAW79773,BAB40337,AAN40698,BAG51424,BAC03746,AAH60800,ABB02425,Q9BYH8 Hs.319171 FLJ30225|FLJ34463|IKBZ|INAP|MAIL I-kappa-B-zeta|IL-1 inducible nuclear ankyrin-repeat protein|Ikappa B-zeta variant 3|IkappaB-zeta|NF-kappa-B inhibitor zeta|OTTHUMP00000214340|ikB-zeta|ikappaBzeta|molecule possessing ankyrin repeats induced by lipopolysaccharide protein-coding 1321531 NFRKB nuclear factor related to kappaB binding protein 17643375,18029348,19573080,19615732,19773279,20237496,20379614,18922472,15489334,15302935,12477932,8889548,2050119,1427843,1777480,17081983,16565220,16344560,20568250 4798 NM_001143835,NM_006165,AP003327,CH471065,AL512730,BC063280,DA324031,X80878 NP_001137307,NP_006156,EAW67752,EAW67753,EAW67754,EAW67755,EAW67756,EAW67757,EAW67758,CAC21663,AAH63280,CAA56846,Q6P4R8 Hs.530539 DKFZp547B2013|INO80G DNA-binding protein R kappa B|DNA-binding protein R kappa-B|INO80 complex subunit G|nuclear factor related to kappa b binding protein|nuclear factor related to kappa-B-binding protein protein-coding 1350532 NFS1 NFS1 nitrogen fixation 1 homolog (S. cerevisiae) Iron-sulfur clusters are required for the function of many cellular enzymes. The protein encoded by this gene supplies inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded protein belongs to the class-V family of pyridoxal phosphate-dependent aminotransferases. [provided by RefSeq] 1580863 16527810,18650437,16847322,9885568,17474147,15489334,14702039,12477932,11780052,11256614,11124703,11060020,8125298,17567994,17207965,20877624,9373149,16344560,19720832 9054 NM_021100,AL109827,AL357374,CH471077,AF097025,AJ010952,AK001265,AK001470,AK056242,AK091049,AK223239,AK295215,AK297969,AK301969,AK302023,AK312293,BC018471,BC065560,CR594451,CR610756,DA082829,NM_001198989,NR_037570,R16676 NP_066923,CAB87612,CAI20116,CAI13601,CAI13602,CAI13603,EAW76170,EAW76171,EAW76172,AAD09187,CAA09424,BAG50917,BAG51655,BAD96959,BAG58209,BAG60279,BAG63382,BAG63421,BAG35220,AAH18471,AAH65560,Q53FP3,Q5QP19,Q8WV90,Q9Y697,ADQ32594,CAM17713,NP_001185918 Hs.194692 HUSSY-08|IscS|NIFS OTTHUMP00000030800|OTTHUMP00000179026|cysteine desulfurase, mitochondrial|nitrogen fixation 1 (S. cerevisiae, homolog)|nitrogen-fixing bacteria S-like protein protein-coding 1317241 NFU1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 16169070,19722697,12886008,11342215,12915448,19146390,12477932,10810093,20877624 27247 NM_001002756,NM_015700,NM_001002757,NM_001002755,AC114772,CH471053,AA625581,AF132967,AJ132584,AK300700,AK308567,AK314004,AY286306,AY286307,AY335194,BC113692,BC113694,BX538347,CR621922 NP_001002756,NP_056515,NP_001002757,NP_001002755,AAY14828,EAW99849,EAW99850,AAD27742,CAB53015,BAG62381,BAG36716,AAP92372,AAP92373,AAQ73784,AAI13693,AAI13695,CAD98142,Q9UMS0,ADR83501 Hs.430439 CGI-33|HIRIP5|MGC142252|MGC142254|NIFUC|Nfu|NifU HIRA interacting protein 5|HIRA-interacting protein 5|NFU1 iron-sulfur cluster scaffold homolog, mitochondrial|NifU-like C-terminal domain containing|OTTHUMP00000214438|OTTHUMP00000214439|OTTHUMP00000214465|OTTHUMP00000214466|iron-sulfur cluster scaffold protein protein-coding 1321083 NFX1 nuclear transcription factor, X-box binding 1 MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq] 1580863 16344560,17567985,7964459,19369336,18505829,17267499,16687406,15371341,15358174,14702039,12477932,12226669,10500182,9373149,8125298,2511169,11073998,19690564,20739528 4799 BP871782,DA093124,NM_002504,NM_147133,NM_147134,AL356218,AL356472,CH471071,U19759,AF332009,AI679589,AK055847,AK225750,AK291643,AL832342,AW674001,BC006447,BC012151,BX647337,U15306 NP_002495,NP_667344,NP_667345,CAI13304,CAI13305,CAH72745,CAH72746,CAH72747,EAW58507,EAW58508,EAW58509,EAW58510,EAW58511,AAB94787,AAK16545,BAF84332,AAH06447,AAH12151,AAA69517,O43831,Q12986,ABM84602,ABM86769 Hs.413074 DKFZp779G2416|MGC20369|NFX2 nuclear transcription factor, X box-binding protein 1|transcriptional repressor NF-X1 protein-coding 1347533 NFXL1 nuclear transcription factor, X-box binding-like 1 20877624,17081983,15815621,15489334,14702039,12477932,8889548,16323267 152518 AC107068,CH471069,AB085695,AB181916,AK131285,AK302440,AY134856,BC018019,BC040151,BC051193,NM_152995,BM724120,BU568855 NP_694540,AAY40918,EAW93041,EAW93042,EAW93043,EAW93044,EAW93045,EAW93046,BAG16182,BAG16261,BAD18459,BAH13710,AAN08626,AAH18019,AAH51193,Q6ZNB6,Q8J028 Hs.646325 FLJ16294|HOZFP|URCC5 NF-X1-type zinc finger protein NFXL1|OTTHUMP00000218679|OTTHUMP00000218680|ovarian zinc finger protein|up-regulated in colon cancer 5 protein-coding 733450 NFYA nuclear transcription factor Y, alpha The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq] 1580863 10441475,10393239,9660784,9612081,9388234,8889548,8051128,3476205,2266139,1577736,1549471,9668064,11158310,20936779,10571058,12659632,12741956,1774067,2000400,15243141,19351437,19302979,18654640,18541673,18496767,18446193,18372207,18281530,17910945,17289878,16343534,16189514,16081537,15964792,15847654,15707954,15647279,15489334,15150264,15044452,14702039,14688259,14586402,14574404,12909359,12857729,12791656,12730328,12511565,12482752,12477932,12427542,12392713,11903046,11777930,10571030,20630860,17098936,20211142,20965718,16959611,19060904,19828605,20023394 4800 NM_002505,NM_021705,AL031778,CH471081,AA905268,AJ420494,AK002098,AK025201,BC026923,BC039244,BM561405,BQ184804,M59079,X59711 NP_002496,NP_068351,CAB44743,CAI20286,EAX04013,EAX04014,EAX04015,EAX04016,EAX04017,EAX04018,EAX04019,EAX04020,EAX04021,AAH39244,AAA35950,CAA42231,P23511,ABZ92427 Hs.10441 CBF-A|CBF-B|FLJ11236|HAP2|NF-YA CAAT box DNA-binding protein subunit A|CAAT-box DNA binding protein subunit A|CCAAT-binding transcription factor subunit B|HAP2 CCAAT-binding protein|Transcription factor NF-Y, A subunit|nuclear transcription factor Y subunit A|nuclear transcription factor Y subunit alpha|nuclear transcription factor-y alpha protein-coding 2293177 NFYAP nuclear transcription factor Y, alpha pseudogene 100130677 NG_007867,AL355879 NFYAP pseudo 1352074 NFYB nuclear transcription factor Y, beta The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq] 1580863 12401788,16959611,1577736,1774067,15243141,18480411,18275041,16344560,16189514,15964792,15847654,15489334,15462673,15044452,14586402,12805369,12766061,12482752,12477932,12167641,11306579,11282029,11022037,11003667,10571030,10075648,9668064,9660784,9612081,9442396,9430679,9388234,9153318,9032250,8051128,8027044,7651426,1549471,19223331,20936779,17098936,20965718 4801 AC089983,CH471054,AA479300,AK291934,AK311706,AL042186,AU151875,AW576189,BC005316,BC005317,BC007035,BF032637,BG776259,BQ420877,CD678671,CR616440,L06145,X59710,NM_006166 NP_006157,EAW97738,EAW97739,EAW97740,EAW97741,EAW97742,BAF84623,AAH05316,AAH05317,AAH07035,AAA59930,CAA42230,P25208,ABM84230,ABM87476 Hs.84928 CBF-A|CBF-B|HAP3|NF-YB CAAT box DNA-binding protein subunit B|CCAAT-binding transcription factor subunit A|Transcription factor NF-Y, B subunit|nuclear transcription factor Y subunit B|nuclear transcription factor Y subunit beta protein-coding 731843 NFYC nuclear transcription factor Y, gamma This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15964792,9153318,10446203,12401788,7969168,9332362,15243141,19047128,16710414,15922473,15489334,14702039,14586402,12482752,12477932,12023901,10571030,9249075,8921405,8910521,12167641,11158310,9388234,11282029,20936779,20965718,19559782,19690168,20054001,20200978 4802 Z74792,NM_001142587,NM_001142588,NM_001142589,NM_001142590,AC119677,AL031289,AL354914,CH471059,AB208975,AF191744,AK000346,AK127677,AK300774,AK301215,AK301385,AL713771,BC005003,BT020081,CR590607,CR596697,CR599274,CR601428,CR602027,CR608652,D85425,D89986,DC297902,DC391720,DC428152,U62296,U78774,Z70024,NM_014223 NP_055038,NP_001136059,NP_001136060,NP_001136061,NP_001136062,CAI16530,CAI16531,CAI16532,CAI16533,CAI16534,CAI16535,CAI16536,EAX07198,EAX07199,EAX07200,EAX07201,EAX07202,EAX07203,BAD92212,AAG28389,BAA91100,BAG54549,BAG62438,BAG62790,BAG62925,CAD28533,AAH05003,AAV38884,BAA12818,BAA14051,AAC50816,AAC51669,CAA93846,CAA99055,Q13952,Q14497,Q16247,Q59GY4,Q5T6K6,Q5T6K7,Q5T6K9,Q8TCN9,Q5T6L3 Hs.713051,Hs.723505 CBF-C|CBFC|DKFZp667G242|FLJ45775|H1TF2A|HAP5|HSM|NF-YC CAAT box DNA-binding protein subunit C|CCAAT binding factor subunit C|CCAAT transcription binding factor subunit gamma|OTTHUMP00000009209|OTTHUMP00000009211|OTTHUMP00000009213|OTTHUMP00000009215|OTTHUMP00000009216|OTTHUMP00000009217|histone H1 transcription factor large subunit 2A|nuclear transcription factor Y subunit C|nuclear transcription factor Y subunit gamma|transactivator HSM-1|transactivator HSM-1/2|transcription factor NF-Y, C subunit protein-coding 1352460 NGB neuroglobin This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq] 1580863 20643048,11029004,19383366,19327369,19307722,19087291,19001220,18767815,18416560,18302932,17975837,17600531,17337004,17210637,16201751,15819897,15808606,15723537,15598495,15489334,15488767,15299006,15193759,15122877,15036292,14645216,14530264,12962627,12958655,12860983,12850561,12508121,12477932,12351835,12239161,11820779,11473128,15120622,19010568,20091232,20227336,19860834,20075359,20345238,20571522 58157 NM_021257,AC007375,AC007954,AF422796,AJ245944,CH471061,DQ008010,AF422797,AJ245946,AK098350,AK315395,BC032509,CR600399 NP_067080,AAF63183,AAF62557,AAL98923,CAC12994,EAW81274,EAW81275,AAY16983,AAL98924,CAC11133,BAG37788,AAH32509,Q9NPG2,ABM81787,ABM84942 Hs.274363 neuroglobin protein-coding 1320980 NGDN neuroguidin, EIF4E binding protein Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM] 18547334,16705177,16565220,15489334,14702039,12477932,17207965 25983 NM_015514,NM_001042635,AL132855,CH471078,AK022215,AK124318,AK291875,AL050003,BC030817,CR598616,CR598946,CR599950,CR609427,CR610556 NP_056329,NP_001036100,EAW66147,EAW66149,BAF84564,CAB43232,Q8NEJ9,ACE87693,ACE87005,AAH30817,ADQ32098 Hs.9043 C14orf120|DKFZp564O092|LCP5|NGD|lpd-2 EIF4E-binding protein|eukaryotic initiation factor 4E and CPEB binding protein|neuroguidin protein-coding 1319181 NGEF neuronal guanine nucleotide exchange factor 1580863 18029348,17702745,16344560,15815621,15489334,12477932,11336673,10777665,11756498,12376548,12787561,19911011,20379614,16169070 25791 NM_019850,NM_001114090,AC016692,AC106876,CH471063,AJ238899,AK293203,AK297390,AK298315,AK300953,BC031573,BC073962,BX431262,DB242442,DC388448 NP_062824,NP_001107562,AAX93288,AAY24359,EAW71024,EAW71025,EAW71026,CAC00686,BAG56743,BAG59830,BAG60569,BAG62581,AAH31573,AAH73962,Q8N5V2,ABM81769,ABM84924 Hs.97316 ARHGEF27|EPHEXIN eph-interacting exchange protein|ephexin-1 protein-coding 1352304 NGF nerve growth factor (beta polypeptide) This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq] 1580935,2303801,2303794,2303798,2303791,2303795,2303806,1580863,2303796,4891133,4891121,4891064,4891065,4891068,4891122,4891123,4891108,4891110,4891115 14985763,11520933,12787574,16939974,8615794,7806500,9182757,10629055,16284401,11157096,19651702,19598235,19475530,19264868,19258923,19221293,19177265,19169037,19120874,19086053,19076929,19063739,19054925,19038341,19038326,19023688,18922683,18922682,18830907,18810245,18780967,18763222,18727839,18635195,18438945,18420729,18349121,18305571,18300262,18280641,18221326,18203754,18199526,18191449,18179783,18068123,17992191,17905097,17893397,17881264,17854142,17850422,17703412,17673289,17638883,17192954,17081983,16919030,16839849,16832412,16786155,16710414,16546643,16319926,16313302,16079148,15829579,15681836,15544837,15523689,15489334,20119692,20375017,15131306,14976160,14970904,14708938,14587217,12925217,12918708,12900521,12676754,12531456,12453472,12397373,12205295,11935372,11877300,11729324,10806167,10681572,10490030,10391209,10322959,9351801,8895847,8808283,8178451,7789166,6688123,6648531,6330750,6327169,3871525,2906326,2374737,2025430,1692298,1383421,16741963,15361847,10708862,15258592,12477932,10022904,10712923,10764727,11244088,11278287,11487608,11830582,12371150,12376548,12676795,12787561,14960584,15128850,15710408,15721744,16215275,16630834,16997282,17335080,19183217,19399531,19403065,19490633,19560628,19626992,19639490,19649262,19668232,19695094,19758188,19844736,19874574,19934806,19945432,19950533,19957796,19958603,20219210,20360245,20398908,20503287,9069267,9252186,9575168,9915784,20233324,20542022,20680101,20881126,20518854 1580935,2303801,2303794,2303798,2303791,2303795,2303806,2303796,4891133,4891121,4891064,4891065,4891068,4891122,4891123,4891108,4891110,4891115 4803 NM_002506,NG_007944,AB037517,AF150960,AL049825,AL512638,AL606499,CH471122,M21062,V01511,AF411526,BC032517,BC126148,BC126150,BE045524,BT019733,CR541855,X52599 NP_002497,BAA90437,AAD55975,CAB75625,EAW56629,AAA59931,CAA24755,AAL05874,AAH32517,AAI26149,AAI26151,AAV38538,CAG46653,CAA36832,P01138,ADR82879 Hs.2561 Beta-NGF|HSAN5|MGC161426|MGC161428|NGFB beta-nerve growth factor|nerve growth factor, beta polypeptide|nerve growth factor, beta subunit protein-coding 730911 NGFR nerve growth factor receptor (TNFR superfamily, member 16) Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq] 1580863 19225519,3022937,19258923,19240061,19177265,19169037,19131967,19086053,19072833,19066726,19041213,18780967,18566344,18540978,18477014,18470533,18462868,18428117,18394312,18319596,18305571,18221326,18203754,18196575,18081157,18036543,18029348,17971243,17947706,17850422,17703412,17696644,17619016,17603629,17582777,17531524,17510309,17492429,17357149,17349981,17287525,17196528,17110619,16951226,16893414,16826429,16704535,16586073,16555252,16460673,16344560,16215672,16099913,15784962,15721744,15701642,15681836,15523689,15489334,15378608,15337528,15310753,15274039,15165637,15015775,14985763,14966521,14689592,14593116,12963025,12913006,12821936,12821676,12789270,12768436,12716928,12682012,12672029,12604596,12477932,12460612,12422217,12414813,12163480,12107411,12034707,12011108,11927634,11818506,11487608,11244088,11150334,10985348,10764727,10545116,10544233,10514511,9927421,9915784,9867838,9665396,9368064,8889548,8627329,8614797,8407983,19615036,20680101,20530577,7903404,7541633,7541035,3020711,3008331,3006050,2989274,2850481,1846035,1324502,1316918,1281863,11279055,9626059,11729324,15953414,15694321,15258592,15131306,20596026,10022904,10485890,10595511,11201742,11278287,11830582,12371150,12376548,12426574,12676795,12692556,12787561,12843241,12951563,14960584,15128850,16215275,16498402,16630834,16997282,17335080,17986144,19301169,19386345,19490633,19598235,19758188,19918800,19945432,20022966,20219210,20237496,20351714,20503287,9252186,9575168,20943663 4804 NM_002507,AC006487,AC015656,CH471109,M21621,AK303278,AK313654,BC050309,BC052797,BQ639556,CK299927,DA115173,M14764,CS483670,HI179096 NP_002498,EAW94677,AAA36363,BAG64358,BAG36408,AAH50309,AAB59544,P08138,CAM36380,CBX53856 Hs.415768,Hs.681726 CD271|Gp80-LNGFR|TNFRSF16|p75(NTR)|p75NTR NGF receptor|OTTHUMP00000220319|TNFR superfamily, member 16|low affinity nerve growth factor receptor|low affinity neurotrophin receptor p75NTR|low-affinity nerve growth factor receptor|p75 ICD|tumor necrosis factor receptor superfamily member 16 protein-coding 735398 NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 17207965,17355907,2171551,16777077,16189514,15958283,15772651,15489334,15178455,12739005,12477932,11830582,11278287,11238738,10764727,10544233,10514511,7757816,12787561,18029348 27018 NM_206915,NM_206917,NM_014380,AL606763,CH471190,AF187064,AK057859,AK315371,AY833562,BC003190,BC051713,BE395284,CD048295,CR593909,CR605989,M38188,CR601593,HI179004,HI179006,HI179008 ADQ32371,NP_996798,NP_996800,NP_055195,CAI41522,CAI41523,EAW54710,EAW54711,EAW54712,AAF75129,BAG37764,AAX40680,AAH03190,AAA63232,AAA63233,Q00994,Q14991,CBX53811,CBX53812,CBX53813 Hs.726035,Hs.448588 BEX3|Bex|DXS6984E|HGR74|NADE OTTHUMP00000023743|OTTHUMP00000023744|brain expressed, X-linked 3|brain-expressed X-linked protein 3|nerve growth factor receptor-associated protein 1|ovarian granulosa cell 13.0 kDa protein HGR74|ovarian granulosa cell protein (13kD)|p75NTR-associated cell death executor|protein BEX3 protein-coding 1318334 NGLY1 N-glycanase 1 This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. 15358861,17015730,16807242,16055502,15610852,20668520,15489334,15362974,14749736,14702039,12477932,10831608,11562482 55768 AL832748,BC000963,BC007226,BC017220,BQ017148,CR611129,CR617659,DC329733,NM_001145295,NM_018297,NM_001145293,AC092798,CH471055,AB209549,AF250924,AK001867,AK022471,AK296047,AK310473,NM_001145294 AAH00963,AAH07226,AAH17220,Q96IV0,Q9NV10,ABM84435,ABM87500,NP_001138766,NP_001138767,NP_060767,NP_001138765,EAW64363,EAW64364,EAW64365,EAW64366,BAD92786,AAF74720,BAA91950,BAG58811 Hs.368960 FLJ11005|FLJ12409|PNG1|PNGase OTTHUMP00000208322|hPNGase|peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase|peptide:N-glycanase protein-coding 1605389 NGRN neugrin, neurite outgrowth associated 11118320,12477932 51335 NM_001033088,NR_028052,AC091167,CH471101,AB029315,AF225423,AF242770,AI865397,AK312641,AL355700,AL360142,AL834503,AY049780,BC001682,BC007222,BC009389,BC017192,BC019023,BC096824,BG716404,CD242640,CR593883,CR594648,CR595022,CR596066,CR596210,CR597227,CR597444,CR599970,CR600787,CR605690,CR608032,CR609120,CR609332,CR609742,CR611334,CR611693,CR613208,CR613572,CR615186,CR615441,CR615702,CR615845,CR622787,CR623804 NP_001028260,EAX02096,EAX02097,EAX02098,EAX02099,BAB21533,AAG09725,AAF65447,BAG35525,CAB96088,CAD39160,AAL15437,AAH01682,AAH07222,AAH09389,AAH17192,AAH96824,Q9NPE2 Hs.715556,Hs.135471 DSC92 mesenchymal stem cell protein DSC92|neugrin|neurite outgrowth associated protein|neurite outgrowth-associated protein|spinal cord-derived protein FI58G protein-coding 1343565 NHCP1 non-histone chromosome protein 1 4805 1605279 NHEDC1 Na+/H+ exchanger domain containing 1 The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16850186,12477932 150159 NM_001100874,NM_139173,NG_008662,AC018797,AC083826,AC097485,AF213884,CH471057,AF447585,AK313592,AY461581,BC022079,BC046636,BC110794,BC132712,BC136966,BC144443,DQ003059 NP_001094344,NP_631912,EAX06152,EAX06153,EAX06154,EAX06155,EAX06156,EAX06157,EAX06158,AAM22868,BAG36359,AAS91021,AAI10795,AAI32713,AAI36967,AAY21808,Q4ZJI4,ADR83330 Hs.666728 MGC131641 CG10806-like|NHE domain-containing protein 1|Na(+)/H(+) exchanger-like domain-containing protein 1|Na+/H+ exchanger like domain containing|Na-H-exchanger protein|sodium/hydrogen exchanger-like domain-containing protein 1 protein-coding 3539548 NHEDC1P1 Na+/H+ exchanger domain containing 1 pseudogene 1 100128190 AC134882,NG_023008 pseudo 2800409 NHEDC1P2 Na+/H+ exchanger domain containing 1 pseudogene 2 389000 AC127391,AC128677,CH471366,NG_009550,NG_023588 A8MT54,EAW50835 pseudo 1604997 NHEDC2 Na+/H+ exchanger domain containing 2 Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM] 18508966,18000046,17988971,12477932,20053353,20332099 133308 NM_178833,AC097485,CH471057,AA233228,AK172823,AK297010,AK298506,AK299888,BC009732,BC047447,BI914487,BI962996,CA447309 NP_849155,EAX06159,EAX06160,EAX06161,BAD18790,BAH12474,BAH12802,BAH13162,AAH09732,AAH47447,Q86UD5 Hs.546482 FLJ23984|NHA2|NHE10 NHE domain-containing protein 2|Na(+)/H(+) exchanger-like domain-containing protein 2|OTTHUMP00000161769|OTTHUMP00000219474|OTTHUMP00000219475|mitochondrial Na(+)/H(+) exchanger NHA2|mitochondrial sodium/hydrogen exchanger NHA2|sodium/hydrogen exchanger-like domain-containing protein 2 protein-coding 1602683 NHEJ1 nonhomologous end-joining factor 1 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq] 16439205,16439204,19266077,19223975,19103754,18775323,18644470,18335491,18270339,18158905,18046455,17720816,17504121,17470781,17317666,17191205,16828027,16571728,16344560,15815621,15489334,14702039,12604777,12477932,17567543,18391952,19420065,19584075,19806195,20189936,20522537,20558749,20844317,20597108 79840 NM_024782,NG_007880,AC020575,AC068946,AC097468,CH471063,AJ972687,AK022672,BC008210,BC012732,BC030986,CR457291,CR596901,DB124934 NP_079058,AAX88921,EAW70678,CAI99410,BAB14168,AAH08210,AAH12732,AAH30986,CAG33572,Q9H9Q4 Hs.225988 FLJ12610|XLF Cernunnos|OTTHUMP00000206275|OTTHUMP00000206278|OTTHUMP00000206279|XRCC4-like factor|non-homologous end-joining factor 1|protein cernunnos protein-coding 1321059 NHLH1 nescient helix loop helix 1 The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM] 1580863 1328219,16344560,15489334,12878195,12477932,10603358,1729708,1528853 4807 NM_005598,AL445230,CH471121,M97507,AK313700,BC013789,BT006859,DA612092,M96739 NP_005589,CAI15014,EAW52719,AAA58634,BAG36446,AAH13789,AAP35505,Q02575,Q5T203,ACT64491,ACT64492 Hs.30956 HEN1|NSCL|NSCL1|bHLHa35 HEN-1|NSCL-1|class A basic helix-loop-helix protein 35|helix-loop-helix protein 1 protein-coding 1317985 NHLH2 nescient helix loop helix 2 1580863 1328219,16710414,16344560,15930276,15489334,14702039,12477932,9455484,1528853,18815487,19898481 4808 AL449264,CH471122,M97508,AA166895,AB007959,AK056621,BC028729,BC096359,BC096360,DA608185,M96740,NM_005599,NM_001111061,AK312849 CAI14533,EAW56637,EAW56638,AAA58635,AAH96359,AAH96360,Q02577,NP_005590,NP_001104531,BAG35702,CAO03390 Hs.46296 HEN2|KIAA0490|NSCL2|bHLHa34 HEN-2|NSCL-2|OTTHUMP00000013748|OTTHUMP00000196794|class A basic helix-loop-helix protein 34|helix-loop-helix protein 2 1643449 BW98_H protein-coding 1350688 NHLRC1 NHL repeat containing 1 The NHLRC1 gene encodes malin, a single subunit E3 ubiquitin (UBB; MIM 191339) ligase, which contains a RING-HC-type zinc finger and 6 NHL domains and is subclassified as a member of the RING-HCa family (Gentry et al., 2005 [PubMed 15930137]).[supplied by OMIM] 1299634 19267391,19171932,19036738,18311786,18263761,18070875,18029386,17337485,16950819,16115820,15930137,15781812,15489334,14574404,12958597,12477932,20534808,17908927,19322595,19529779,19892702,20738377 1299634 378884 NM_198586,AL589723,CH471087,AY324850,BC103888,BC103889,BC103890,BK001510,NG_016750 NP_940988,CAH71232,EAW55392,AAQ19671,AAI03889,AAI03891,DAA01954,Q6VVB1,AAI03890 Hs.348351 EPM2A|EPM2B|MALIN|MGC119262|MGC119264|MGC119265|bA204B7.2 E3 ubiquitin-protein ligase NHLRC1|NHL repeat-containing protein 1 protein-coding 1316494 NHLRC2 NHL repeat containing 2 737633,1580863 14702039,12477932,16385451,16344560 737633 374354 NM_198514,AL162407,AL592546,AL627429,CH471066,AK000154,AK090631,AK098487,AK126751,AL832090,BC013743,BC032598,BX538287,BX647641,CR593205,BX647663,DA821295 NP_940916,CAH73301,CAI12636,CAH73013,EAW49486,EAW49487,EAW49488,BAA90979,BAC03493,BAC05316,CAD98082,Q7Z658,Q8NBF2,Q9NXN1,AAH32598 Hs.594372,Hs.369924 DKFZp779F115|FLJ20147|FLJ25621|FLJ33312|MGC45492 1200003G01Rik|NHL repeat-containing protein 2|novel NHL repeat domain containing protein protein-coding 1605503 NHLRC3 NHL repeat containing 3 12477932 387921 NM_001012754,NM_001017370,AL445590,CH471075,AK299198,AK300260,AL833329,BC052492,BC140877,BC140878,BX647872,BX648122,CR601315,CR613108,CR625961,CR749318 NP_001012772,NP_001017370,CAI40978,EAX08612,EAX08613,EAX08614,EAX08615,BAG61240,BAG62022,CAH10395,AAI40878,AAI40879,CAH18173,Q5JS37,Q68DP7 Hs.507783 DKFZp313M1221|DKFZp686E1140 NHL repeat-containing protein 3 protein-coding 1319777 NHP2 NHP2 ribonucleoprotein homolog (yeast) This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 18523010,15889794,15814878,15635413,15489334,15044956,14702039,12477932,12429849,12020816,11790298,11074001,11042152,9847074,9843512,20008900,18482256,19615732,20098747 55651 NM_001034833,NM_017838,NG_011765,AC136632,CH471165,AF161404,AF401217,AF401219,AJ293309,AK000486,BC000009,BC006387,BE797477,BG827491,BM913344,CR457238,CR612055 NP_001030005,NP_060308,EAW53848,AAF28964,AAL02173,AAL02175,CAC08452,BAA91198,AAH00009,AAH06387,CAG33519,Q96P96,Q9NX24 Hs.27222 NHP2P|NOLA2 H/ACA ribonucleoprotein complex subunit 2|NHP2-like protein|OTTHUMP00000223998|OTTHUMP00000223999|nucleolar protein family A member 2|nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)|snoRNP protein NHP2 protein-coding 1347136 NHP2L1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 10593953,12226669,8978773,18044964,16169070,15635413,15489334,15461802,12477932,12417735,12203836,12011111,11790298,11163207,10591208,10545122,9114055,12429849,17412961,17636026,17643375,19620283 4809 NM_001003796,NM_005008,CH471095,CQ840914,Z83840,AF091076,BC095439,BG164621,BI770951,CF552526,CR456531,CR541725,CR591470,CR593004,CR593383,CR593477,CR595064,CR596973,CR598655,CR600000,CR600974,CR602484,CR605954,CR609358,CR612873,CR613725,CR614137,CR616990,CR616994,CR623174,CR623311,AF155235,AK311800,BC005358,BC019282,D50420 NP_001003796,NP_004999,EAW60450,EAW60451,EAW60452,EAW60453,CAH05699,CAB46207,CAQ09821,CAQ09822,AAC72945,AAH95439,CAG30417,CAG46526,AAH19282,AAF06959,BAG34743,AAH05358,BAA23363,P55769,Q6FHM6,CAK54562,CAK54861 Hs.182255 15.5K|FA-1|FA1|NHPX|OTK27|SNRNP15-5|SNU13|SPAG12|SSFA1 NHP2-like protein 1|OTTHUMP00000199329|U4/U6.U5 tri-snRNP 15.5 kDa protein|[U4/U6.U5] tri-snRNP 15.5 kD RNA binding protein|high mobility group-like nuclear protein 2 homolog 1|non-histone chromosome protein 2-like 1|small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)|sperm specific antigen 1 protein-coding 1346349 NHP2P1 NHP2 ribonucleoprotein homolog (yeast) pseudogene 1 414200 NG_005297,AL158040 NOLA2P1|bA360G10.4 pseudo 3322379 NHP2P2 NHP2 ribonucleoprotein homolog (yeast) pseudogene 2 442290 AC004079,CH236948,NG_005298 TCAG_30283 pseudo 1352036 NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1598795 20332100,18949062,17417607,17081983,16964243,16675532,15772651,15623749,15466011,14564667,12173028,10394933,1971992,12477932,19414485,19913121,20628086 1598795 4810 CR936788,NM_001136024,NG_011553,AC122692,AL034404,AL845433,BX294650,Z93022,Z93242,AK302437,AY436752,AY456992,AY456993,BC136415,BC171763,BQ017161,CR749300,NM_198270,GQ988776 NP_938011,NP_001129496,CAI41241,CAI42724,BAH13708,AAR03104,AAS13455,AAS13456,AAI36416,AAI71763,CAH18155,Q6T4R5,ADN85614 Hs.201623 CXN|DKFZp781F2016|DKFZp781L0254|FLJ22511|SCML1 Nance-Horan syndrome protein|congenital cataracts and dental anomalies protein protein-coding 1349811 NHSL1 NHS-like 1 15466011,12477932,10718198 57224 NM_001144060,NM_020464,AL391669,AL590611,AL590617,AL591375,CH471051,AB037778,AK000699,AK025199,AK025347,AK299585,AK307584,BC020940,BC045181,BX647246 NP_001137532,NP_065197,CAI14156,CAI14157,CAI12098,CAI12099,EAW47916,BAA92595,BAG61520,AAH45181,Q5SYE7 Hs.652741 C6orf63|KIAA1357 NHS-like protein 1|OTTHUMP00000017937|OTTHUMP00000017938 protein-coding 1603499 NHSL2 NHS-like 2 12477932 340527 NM_001013627,BX119917,BC033261,BC136756,AL929401 NP_001013649,CAI39853,AAI36757,Q5HYW2 Hs.397836 RP11-262D11.5 NHS-like protein 2 protein-coding 1352808 NIACR1 niacin receptor 1 1299612,1580863 19913121,20628086,20655299,2834384,17932499,19502010,19141678,19136666,18983141,18787507,18639743,16674924,16018973,15489334,12646212,12522134,12477932,12044878,20460384,19633298,20184326,20380810 1299612 338442 AB065665,AB065876,AB083632,AC026333,EU012026,AK290915,AL572062,AL698846,AY148884,BC027965,BC056419,BC063461,CD364466,NM_177551 NP_808219,BAC05891,BAC06094,BAB89345,ABS29270,BAF83604,AAN71621,AAH27965,AAH56419,Q8NGV8,Q8TDS4 Hs.524812 GPR109A|HM74a|HM74b|NIACR1|PUMAG|Puma-g G protein-coupled receptor HM74a|G-protein coupled receptor 109A|G-protein coupled receptor HM74A|niacin receptor 1|nicotinic acid receptor protein-coding 1348987 NIACR2 niacin receptor 2 1580863 9205127,7505609,19502010,19237584,18983141,17562024,16344560,15489334,12646212,12563315,12522134,12477932,12090300,19561068,19633298,20380810,19913121,20628086 8843 NM_006018,AB065865,AC026333,CH471054,EU293604,AK290930,AK313212,BC038955,BC047891,BI908162,CB529340,CD366840,CU451507,D10923,DA948030,DA953971,R02740 NP_006009,BAC06083,EAW98335,EAW98336,ABX64359,BAF83619,BAG36027,AAH47891,BAA01721,P49019 Hs.458425 GPR109B|HM74|PUMAG|Puma-g G-protein coupled receptor 109B|G-protein coupled receptor HM74|G-protein coupled receptor HM74B|GTP-binding protein|niacin receptor 2|nicotinic acid receptor 2|putative chemokine receptor protein-coding 1350970 NICN1 nicolin 1 This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. 1580863 15489334,14702039,12487019,12477932,12392556,19692168,20307617 84276 NM_032316,AC104452,CH471055,AF538150,AJ299740,AK094248,AK313073,BC005050,BC050653,CR613547,AK301846 NP_115692,EAW64987,EAW64988,AAN52734,CAC82516,BAG52849,BAG35900,AAH05050,AAH50653,Q9BSH3,BAG63289 Hs.191460 MGC12936 NPCEDRG|OTTHUMP00000210795|OTTHUMP00000210796|OTTHUMP00000210797|PGs5|nicolin-1|tubulin polyglutamylase complex subunit 5 protein-coding 1353844 NICN2P nicolin 2, pseudogene 12392556 171176 NG_005534,AL591503 pseudo 737172 NID1 nidogen 1 This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq] 1580863 17328794,17008882,16710414,16344560,15489334,15231748,15146197,12931195,12477932,12180907,12005023,11956183,11847210,11733994,11574465,11493006,11419941,11376898,9733643,9686320,9647658,9501082,9299350,9278415,8995276,8831898,8354280,7867626,7557988,2506015,2471408,2180767,2119632,1906509,1680863,1499567,10772929,7500359,2574658,16574105 4811 NM_002508,AL122018,AL139161,CH471098,X82245,AB209448,AK297234,BC012501,BC045606,BQ549657,CN267119,CR590230,CR609449,CR611614,DA269707,DN999415,M27445,M30269 CAI22681,NP_002499,CAI22680,CAI23421,CAI23422,EAW70039,EAW70040,EAW70041,CAA57709,BAD92685,BAG59717,AAH45606,AAA57261,AAA59932,P14543 Hs.356624 NID NID-1|enactin|entactin|nidogen (entactin)|nidogen-1 protein-coding 1323271 NID2 nidogen 2 (osteonidogen) Basement membranes, which are composed of type IV collagens (see MIM 120130), laminins (see LAMC1; MIM 150290), perlecan (HSPG2; MIM 142461), and nidogen (see NID1; MIM 131390), are thin pericellular protein matrices that control a large number of cellular activities, including adhesion, migration, differentiation, gene expression, and apoptosis.[supplied by OMIM] 1580863 9733643,17903307,17328794,17008882,16344560,12477932,12475645,12005023,11956183,11733994,10544250,8889548,10772929,11493006,11847210,15231748,19883638 22795 NM_007361,AB009799,AL118557,AL358333,CH471078,AJ223500,AK291652,AK298542,AK300462,AL701794,AU119925,BC035608,BM719690,BX648241,CA413165,D86425 NP_031387,BAA24112,EAW65658,CAA11418,BAF84341,BAG60740,BAG62181,AAH35608,CAI56714,BAA13087,Q14112,Q5CZI2,Q8IV28 Hs.369840 NID-2 nidogen-2|osteonidogen protein-coding 1349833 NIDDM1 non-insulin-dependent diabetes mellitus (common, type 2) 1 8640221 4812 1351836 NIDDM2 non-insulin-dependent diabetes mellitus (common, type 2) 2 8782826 4813 1321170 NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. pombe) 15163635,16713569,16189514,15489334,15342556,14702039,12951069,12522100,12477932,11161814,11124544,9373149,8889548,8125298,19060904,20877624 60491 NM_001136039,NM_001142355,NM_001142356,AC005037,CH471063,AB038949,AF060513,AF182416,AF283538,AK023378,AK225905,AK314709,AL834430,NM_021824,AY251943,AY251944,BC007654,BG724012,BM974977,BP194872,CR603298,CR603804,CR608678,CR610276,CR611085,CR612823,CR617153,CR620321 NP_068596,NP_001129511,NP_001135827,NP_001135828,AAY14724,EAW70224,EAW70225,EAW70226,EAW70227,BAB32499,AAG43131,AAG14952,AAG44846,BAB14551,CAH56370,AAP84063,AAP84064,Q658J0,Q6X734,Q6X735,Q9GZT8,ABM87611,AAH07654 Hs.145284 ALS2CR1|CALS-7|MDS015 NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1|NIF3-like protein 1|OTTHUMP00000206190|OTTHUMP00000206191|OTTHUMP00000206192|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 1|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein protein-coding 1315140 NIN ninein (GSK3B interacting protein) This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq] 17139249,19615732,20056645,20125193,20379614,20508983,15147888,16154161,12927815,17698918,17383637,17102634,16254247,15784680,15489334,15190203,15087377,15048123,14702039,14503922,12477932,12403812,12168954,11956314,11162463,11004522,10997877,9506584,8889548 51199 NM_020921,NM_182946,NM_016350,NM_182944,AL133485,AL606834,CH471078,AA742651,AB046785,AF186776,AF212162,AF223937,AF223938,AF223939,AF302773,AK025652,AK026083,AK027054,AL359571,AW505195,AY027794,AY027795,AY027796,AY736182,AY736183,BC034708,BC065521,BC090932,BM721510,CB241926,CR993064 NP_065972,NP_891991,NP_057434,NP_891989,EAW65692,EAW65693,EAW65694,EAW65695,EAW65696,EAW65697,EAW65698,EAW65699,EAW65700,EAW65701,BAB13391,AAG17027,AAF23015,AAK00628,AAK00629,AAK00630,AAG33512,BAB15640,AAK27375,AAK27376,AAK27377,AAU86898,AAU86899,AAH34708,AAH65521,AAH90932,Q5BKU3,Q5UBV5,Q5UBV6,Q5XUU0,Q8N4C6 Hs.569387,Hs.310429 KIAA1565 GSK3B-interacting protein|OTTHUMP00000195017|OTTHUMP00000195510|glycogen synthase kinase 3 beta-interacting protein|hNinein|ninein|ninein centrosomal protein protein-coding 737046 NINJ1 ninjurin 1 The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM] 729059,1580863 9261151,18676680,18504448,17893696,17825431,15489334,15464245,15164053,14702039,12477932,9465296,8780658,19170196,19625176,19692168 729059 4814 AF029251,AL451065,CH471089,AK094530,BC000298,BC004440,BC019336,BC048212,BT007164,CR595190,CR608271,U72661,NM_004148,U91512 AAB17560,NP_004139,AAC39574,CAI95111,EAW62856,AAH00298,AAH04440,AAH19336,AAH48212,AAP35828,AAC14593,Q92982 Hs.494457 NIN1|NINJURIN nerve injury-induced protein 1|nerve injury-induced protein-1|ninjurin-1 protein-coding 1352493 NINJ2 ninjurin 2 Cell adhesion molecules mediate cell-to-cell and cell-to-extracellular matrix interactions during development, differentiation, and regeneration of the peripheral nervous system. NINJ2 is upregulated in Schwann cells in the distal nerve segment after peripheral nerve injury and can promote neurite outgrowth.[supplied by OMIM] 724399,1580863 10627596,19369658,17081983,15489334,12477932,20410525,20957003 724399 4815 NM_016533,AC006205,AC021054,CH471116,AF205633,AK296012,AK315995,BC057766,BI597990 NP_057617,EAW88959,EAW88960,AAF42828,BAG58783,BAH14366,AAH57766,Q9NZG7,AAI48621,AAI53187 Hs.656450 FLJ56349 nerve injury-induced protein 2|ninjurin-2 protein-coding 1604826 NINL ninein-like 18029348,18826961,18538832,17403670,16254247,15489334,14702039,12852856,12477932,11780052,10231032,16169070,16189514,11076968,12221128,16462731,19509300,19724857,20093778,7790358,20864540 22981 NM_025176,AL031672,AL161802,CH471133,AB023197,AI024623,AK021854,AK093569,AK293991,AK309298,BC036380,EU718622 NP_079452,CAC35004,CAI43018,EAX10082,EAX10083,EAX10084,EAX10085,EAX10086,BAA76824,BAB13914,BAH11644,AAH36380,ACE78295,Q9BQX2,Q9HAD5,Q9Y2I6 Hs.631508 FLJ11792|KIAA0980|NLP|dJ691N24.1 ninein-like protein protein-coding 1345024 NIP1L NIP1 nuclear import protein-like (S. cerevisiae) 4816 732109 NIP7 nuclear import 7 homolog (S. cerevisiae) 14660641,17643419,16341674,16189514,15635413,15522784,15489334,14702039,12477932,12429849,12417987,11042152,10810093 51388 AC026464,CH471092,AB062398,AB062479,AB112439,AF085360,AF132971,AF161528,AK001158,AK315355,BC015941,BM754629,CR616954,NM_016101,AW001672,DB453898,DR423435,NM_001199434,HH770973 Q9Y221,NP_057185,EAW83270,EAW83271,BAB93485,BAB93504,BAD05056,AAD40195,AAD27746,AAF29143,BAG50861,BAG37751,AAH15941,ABM82037,ABM85217,NP_001186363,CBX86193 Hs.724674 CGI-37|FLJ10296|HSPC031|KD93 60S ribosome subunit biogenesis protein NIP7 homolog|saccharomyces cerevisiae nip7p homolog protein-coding 1606742 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq] 20685689,19091982,18191948,17928003,17420921,17205300,17166836,16982806,16335952,16267846,15711826,15643603,14508710,14508708,12805275,12477932,8618696,7825577,19620182,20398908 123606 NM_144599,NG_009056,AC011767,CH471258,CQ834740,AB089319,AK057846,AK314073,BC025678,BC103705,BK001020,BX648722,CR599873,CR614719,NM_001142275 NP_653200,NP_001135747,EAW65549,EAW65550,EAW65551,CAH05585,BAC67707,BAG36773,AAH25678,AAI03706,DAA01477,CAI45979,Q3SYP4,Q7RTP0,Q8TAY1,AAI56248,AAI72484,ABM82178,ABM85364 Hs.511797 FSP3|MGC102724|MGC35570|SPG6 magnesium transporter NIPA1|non-imprinted in Prader-Willi/Angelman syndrome 1|non-imprinted in Prader-Willi/Angelman syndrome region protein 1|spastic paraplegia 6 protein protein-coding 1348761 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 1580863 16982806,15489334,15317751,15067324,14702039,14508708,12477932,8619474,16344560,19328872,19940067 81614 NM_001008894,NM_001008892,NM_001008860,NM_030922,AC011767,CH471258,AK096305,AK313584,AY732242,BC000957,BC011775,BK001120,CR598795,CR606982,CR625512,U90904,AK300843,BM544162,DA082125,NG_021303,NM_001184888,NM_001184889,R56244,CR595946 NP_001008894,NP_001008892,NP_001008860,NP_112184,EAW65552,EAW65553,EAW65554,BAC04757,AAU34000,AAH00957,AAH11775,DAA01509,Q8N8Q9,BAG62494,NP_001171817,NP_001171818 Hs.591003,Hs.26704 MGC5466 magnesium transporter NIPA2|non-imprinted in Prader-Willi/Angelman syndrome region protein 2 protein-coding 1602833 NIPAL1 NIPA-like domain containing 1 15489334,14702039,12477932 152519 NM_207330,AC096749,CH471069,AK095299,AL832997,BC067881,CR749484 NP_997213,EAW93050,BAG53022,AAH67881,CAH18311,Q6NVV3 Hs.134190 DKFZp686A06115|NPAL1 NIPA-like protein 1|OTTHUMP00000223078|magnesium transporter NIPA3|non-imprinted in Prader-Willi/Angelman syndrome region protein 3 protein-coding 1605636 NIPAL2 NIPA-like domain containing 2 15317751,14702039,12477932 79815 NM_024759,AP003438,AP003439,CH471060,AK024017,AK302414,BC132687,BC144055 NP_079035,EAW91777,EAW91778,EAW91779,BAB14779,BAG63722,AAI32688,AAI44056,Q9H841 Hs.309489 FLJ13955|NPAL2 NIPA-like protein 2 protein-coding 1603619 NIPAL3 NIPA-like domain containing 3 16710414,16344560,15489334,12477932,9110174,8619474,19738379 57185 AL031431,CH471134,AF131814,AK312433,BC001265,BC012492,BC063583,BX538110,BX640883,CR597336,CR601331,CR626180,DA223169,U90918,NM_020448 NP_065181,CAB48885,CAI21412,CAI21413,CAI21414,CAI21415,EAW95130,BAG35342,AAH01265,AAH12492,AAH63583,CAD98023,CAE45938,Q5TH81,Q6P499,Q7Z354,Q96EB9 Hs.523442 DJ462O23.2|DKFZp686E22155|NPAL3|RP3-462O23.3 NIPA-like protein 3|OTTHUMP00000003338|OTTHUMP00000003341 protein-coding 2306343 NIPAL4 NIPA-like domain containing 4 19197536,17557927,16344560,15317751,12477932,9110174,8619474,19423540,20016120,20406964,20438785 348938 NM_001099287,AC008676,AF131815,AK026158,AK296972,AK308830,AK309242,BC105708,BC105709,BC105710,DB153698,DC348015,NG_016626,NM_001172292 NP_001092757,BAG59515,AAI05709,AAI05710,AAI05711,Q0D2K0,AAI60182,NP_001165763 Hs.4285 ICHTHYIN|ICHYN NIPA-like protein 4|magnesium transporter NIPA4|non-imprinted in Prader-Willi/Angelman syndrome region protein 4|nonimprinted in Prader-Willi/Angelman syndrome region protein 4 protein-coding 1604032 NIPBL Nipped-B homolog (Drosophila) This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19468298,18299561,17661813,17264868,17106445,17081983,16964243,16565220,16236812,15882967,15635413,15591270,15489334,15318302,15146197,15146186,15146185,14702039,12477932,16169070,20824775,16682347,15302935,20634891,16100726,16802858,17468178,17577209,18854353,19052029,19242925,20124326,20358602,8291537 25836 NM_015384,NM_133433,NG_006987,AC008902,AC026741,CH471119,AA508213,AJ627032,AJ640137,AK002065,AK022659,AK023416,AK023710,AK126804,AK290347,AL137726,AY726600,BC032711,BC033847,BC063859,BC131490,BC146821,BK005151,BQ723324,BX538177,BX538178,BX640644,CN369580 NP_056199,NP_597677,EAW55948,EAW55949,EAW55950,CAF25290,CAG26691,BAC86701,BAF83036,AAH33847,AAI31491,AAI46822,DAA05331,CAD98051,CAD98052,CAE45790,Q6IEH8,Q6KC79 Hs.481927 CDLS|CDLS1|DKFZp434L1319|FLJ11203|FLJ12597|FLJ13354|FLJ13648|FLJ44854|IDN3|IDN3-B|Scc2 SCC2 homolog|delangin|nipped-B-like protein|sister chromatid cohesion 2 homolog protein-coding 1321311 NIPSNAP1 nipsnap homolog 1 (C. elegans) NIPSNAP1 protein has a strong sequence similarity to the central portion of a hypothetical protein encoded by C. elegans chromosome III between a 4-nitrophenylphosphatase (NIP) domain and non-neuronal SNAP25-like protein. The NIPSNAP1 gene is located between the NF2 and pK1.3 genes on 22q12. [provided by RefSeq] 1580863 19169841,18392847,16344560,15489334,12925885,12477932,11895482,9661659,16169070,20562859,20877624 8508 NM_003634,AC005529,CH471095,AJ001258,AK098367,AK290953,AK298816,AK314407,BC002371,BC006473,BC018869,CR592474,CR596420,CR598746,CR598880,CR599055,CR599169,CR600931,CR602356,CR612637,CR613296,CR616726,CR618911,CR623198,CR623297,DA133702 NP_003625,EAW59813,CAA04632,BAF83642,BAG60949,BAG37030,AAH02371,AAH06473,Q9BPW8 Hs.173878 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1|NIPSNAP, C. elegans, homolog 1|OTTHUMP00000199704|protein NipSnap homolog 1 protein-coding 1352624 NIPSNAP3A nipsnap homolog 3A (C. elegans) NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM] 737633 15489334,15177564,14702039,12477932,12427096,16169070,17207965,20877624 737633 25934 AF161417,AK024015,AK301410,AL117557,BC005935,BC045830,CR598382,CR600273,CR604631,CR609627,CR613000,CR615189,CR621160,AL359846,NM_015469,CH471105,CR613526,CR622522 EAW58990,AAF28977,BAB14777,BAG62943,CAB55992,AAH05935,Q9UFN0,ADQ33218,NP_056284,CAH73580 Hs.530275 DKFZp564D177|FLJ13953|HSPC299|MGC14553|NIPSNAP4|TASSC protein NipSnap homolog 3A|protein NipSnap homolog 4|target for Salmonella secreted protein C protein-coding 1348563 NIPSNAP3B nipsnap homolog 3B (C. elegans) NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM] 737633 15489334,15177564,14702039,12477932,11352567,17207965,20877624 737633 55335 NM_018376,AF287262,AL359846,CH471105,AK002137,AK310397,BC005202,BC017914,BX647652 NP_060846,AAK43527,CAH73582,EAW58991,BAA92101,AAH05202,AAH17914,Q9BS92,ADQ31882 FLJ11275|NIPSNAP3 SNAP1|protein NipSnap homolog 3B protein-coding 1315855 NISCH nischarin 1581128 18561481,16598778,15475348,15028623,15028622,15028621,15028619,14702039,12868002,12865160,12477932,12021582,11912194,10882231,10231032,9851558,20935629,19913121,20628086 1581128 11188 NM_007184,BC056900,CR622669,CR623596,DB496030,CH471055,AB023192,AF058290,AF082516,AI889216,AK001505,AK027331,AK027428,AK075000,AK097732,AK291398,AK297657,AK302441,AK315001,AL117432,AL703940,BC038102,BC050552,BC054494,AC006208 NP_009115,AAH56900,Q9Y2I1,EAW65228,EAW65229,EAW65230,EAW65231,BAA76819,AAC33321,AAC33104,BAG51306,BAG51321,BAF84087,BAG60023,BAG63739,CAB55920,AAH38102,AAH54494 Hs.435290 FLJ14425|FLJ40413|FLJ90519|I-1|IRAS|KIAA0975 I-1 receptor candidate protein|I1R candidate protein|IR1|OTTHUMP00000213104|OTTHUMP00000213105|hIRAS|imidazoline receptor 1|imidazoline receptor antisera selected|imidazoline receptor antisera-selected protein|imidazoline receptor candidate|imidazoline-1 receptor candidate protein|nischarin protein-coding 1349751 NIT1 nitrilase 1 1302481 16712791,9671749,18029348,16864578,15489334,15231748,12477932,16169070,20877624 1302481 4817 NM_005600,AF069984,AL591806,CH471121,AF069987,AK313323,BC046149,CR541814,CR541846,CR593362,CR602066,CR606194,CR609891,CR616950,CR618564,CR622990,CR626659,AI277603,AK296606,BI752623,BQ002524,BX416745,CB111935,DC302367,NM_001185092,NM_001185093,NM_001185094 NP_005591,AAC39901,CAI15379,CAI15380,EAW52654,EAW52655,EAW52656,EAW52657,AAC39907,BAG36128,AAH46149,CAG46613,CAG46644,Q86X76,AAX36541,AAX36975,BAH12396,NP_001172021,NP_001172022,NP_001172023 Hs.146406 MGC57670 OTTHUMP00000029697|nitrilase homolog 1 protein-coding 1346727 NIT2 nitrilase family, member 2 737633 17488281,16341674,12477932,10959838,9373149,8125298 737633 56954 NM_020202,AC093003,CH471052,AF260334,AF284574,AK225979,AK294010,AK313704,BC020620,BC107890,BM748852,DB466042 NP_064587,EAW79824,EAW79825,AAG44665,AAF87103,BAG57372,BAG36450,AAH20620,AAI07891,Q9NQR4,ABM84061,ABM87415 Hs.439152 MGC111199 Nit protein 2|nitrilase homolog 2|omega-amidase NIT2 protein-coding 1606507 NKAIN1 Na+/K+ transporting ATPase interacting 1 16710414,15489334,14702039,12477932,17606467 79570 AI884789,AK298874,AK299507,DB499136,NM_024522,AC114495,CH471059,AK022712,AL832547,BC096707,BC098173,BC098249,BC131518,CR623394 BAH12891,BAH13055,NP_078798,EAX07628,EAX07629,BAB14196,AAH96707,AAH98173,AAH98249,AAI31519,Q4KMZ8 Hs.470259 FAM77C|FLJ12650 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 1|OTTHUMP00000003887|family with sequence similarity 77, member C|sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 protein-coding 4145484 NKAIN1P1 Na+/K+ transporting ATPase interacting 1 pseudogene 1 100462647 AL592492,NG_021262 FLJ39739 pseudo 1349938 NKAIN2 Na+/K+ transporting ATPase interacting 2 19913121,20628086,20634892,17606467,15908570,14702039,14574404,12477932,11979551,16344560,20379614 154215 AK310763,AK315886,BC035062,DB503487,AL035692,AL109842,AL121968,AL136081,AL136107,AL136224,AL354936,AL356278,AL356605,AL450343,AL451135,AL451183,AL512376,CH471051,AB070452,AK055326,AK308927,AK309385,AK309407,AK309802,NM_001040214,DA220592,DB174077,NG_021365,NM_153355 BAF98777,AAH35062,Q5VXU1,NP_001035304,CAI19752,CAI19753,CAI20108,CAH73091,CAH73092,CAH73593,CAH73594,EAW48156,BAB85477,BAG51502,NP_699186 Hs.656604 FAM77B|MGC41924|NKAIP2|TCBA|TCBA1 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2|T-cell lymphoma breakpoint-associated target protein 1|sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 protein-coding 1606659 NKAIN3 Na+/K+ transporting ATPase interacting 3 17606467,14702039,20379614 286183 NM_173688,AC018861,AC023095,AC068937,AC087358,AC090577,AC091554,AC120042,CH471068,AK096949,AK299689 NP_775959,EAW86858,EAW86859,BAC04909,BAG61594,Q8N8D7,AAI46367 Hs.654662 FAM77D|FLJ39630 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 3|family with sequence similarity 77, member D|sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 protein-coding 1314067 NKAIN4 Na+/K+ transporting ATPase interacting 4 17606467,15489334,12477932,11780052,9373149,8889548,8125298,17207965 128414 NM_152864,AL121827,CH471077,AK126246,AK225765,AK308958,BC041812,BG708360,BM673598 NP_690603,CAI95064,EAW75297,EAW75298,EAW75299,EAW75300,EAW75301,BAG54297,AAH41812,Q8IVV8,ADQ32491,CAI95060,CAI95061,CAI95062 Hs.46627 C20orf58|FAM77A|bA261N11.2 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 4|OTTHUMP00000031540|OTTHUMP00000031542|sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 protein-coding 1606506 NKAP NFKB activating protein 19409814,18029348,18804983,17081983,16189514,16097034,15489334,15345747,15302935,14702039,14550261,12477932,16169070,17207965 79576 NG_021260,NM_024528,AC002477,CH471161,AK026279,AK094446,AL832118,AY388958,BC000940,BC012770,BC015354,BC016783,BC018968,BC032442,BC071686,CR620788 NP_078804,EAW89838,BAB15428,AAQ90402,AAH15354,AAH16783,AAH18968,AAH32442,AAH71686,Q05D22,Q8N5F7,ADQ32702 Hs.522771 FLJ22626 NF-kappa-B-activating protein|NF-kappaB activating protein protein-coding 1323244 NKAPL NFKB activating protein-like 15489334,14574404,12477932,17207965 222698 NM_001007531,AL390721,CH471081,AF085870,BC038240,BC101681,BC101685 NP_001007532,CAC69824,EAX03145,EAX03146,AAH38240,AAI01682,AAI01686,Q5M9Q1,ADQ31981 Hs.239181 C6orf194|MGC126730|MGC126734|bA424I5.1 NKAP-like protein protein-coding 1318289 NKD1 naked cuticle homolog 1 (Drosophila) In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM] 15687260,16567647,12477932,11752446,11604995,11356022,11274398,19956716 85407 NM_033119,AC007608,CH471092,AB062886,AF289584,AF358135,AK314930,AY061883,BC051288 NP_149110,EAW82761,BAB70500,AAL55768,AAK57484,BAG37436,AAL32374,AAH51288,Q969G9 Hs.592059 Naked1 Dvl-binding protein|hNkd|hNkd1|naked cuticle-1|naked-1|protein naked cuticle homolog 1 protein-coding 1322930 NKD2 naked cuticle homolog 2 (Drosophila) In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM] 1580863 15064403,18757723,17553928,16752383,12477932,11604995,11356022,20177058 85409 NM_033120,AC116351,CH471102,AB062887,AF358137,BC004940,BC012176 NP_149111,EAX08182,EAX08183,EAX08184,BAB70501,AAK57486,AAH04940,AAH12176,Q969F2 Hs.240951 Naked2 Dvl-binding protein NKD2|hNkd2|naked cuticle-2|naked-2|protein naked cuticle homolog 2 protein-coding 1347836 NKG7 natural killer cell group 7 sequence 1580863 8458737,15489334,12477932,7510105 4818 NM_005601,AC008750,AF305941,CH471135,U09608,AI313472,BC015759,S69115 NP_005592,AAG32329,EAW72006,EAW72007,EAW72008,AAA18209,AAH15759,AAB30078,Q16617,ABM86868,ABW03870 Hs.10306 GIG1|GMP-17|p15-TIA-1 G-CSF-induced gene 1 protein|GIG-1 protein|granule membrane protein of 17 kDa|natural killer cell protein 7|protein NKG7 protein-coding 1318403 NKIRAS1 NFKB inhibitor interacting Ras-like 1 20693965,10657303,18434448,15761153,15489334,15024091,14702039,12672800,12477932 28512 NM_020345,AC124914,CH471055,DQ314881,AF229839,AK027749,BC012145,BC066940,BG713995,CR600782,CR602142,CR606911 NP_065078,EAW64335,EAW64336,ABC40740,AAF34998,BAB55341,AAH12145,AAH66940,Q9NYS0,ABW03916 Hs.173202 KBRAS1|kappaB-Ras1 I-kappa-B-interacting Ras-like protein 1|NF-kappa-B inhibitor-interacting Ras-like protein 1|NFKB inhibitor interacting Ras-like protein 1|OTTHUMP00000208337|OTTHUMP00000208339|kappa B-Ras protein 1|kappa B-ras 1 protein-coding 1316518 NKIRAS2 NFKB inhibitor interacting Ras-like 2 1580863 10657303,18434448,16344560,15489334,14702039,12477932,20639196 28511 NM_001001349,NM_001144927,NM_017595,NM_001144929,NM_001144928,AC105024,CH471152,DQ314882,AF229840,AK027265,AK054571,AK297975,AL137682,BC007316,BC007450,BC009059,BC063498,BG717103,CR595468,CR598071,CR618051,DA509824,DA607452 NP_001001349,NP_001138399,NP_060065,NP_001138401,NP_001138400,EAW60790,EAW60791,EAW60792,EAW60793,EAW60794,ABC40741,AAF34999,BAB55006,BAG51392,BAG60285,CAB70873,AAH07450,AAH63498,Q9NYR9,ABM84159,ABM87562 Hs.632252 DKFZp434N1526|KBRAS2|MGC74742|kappaB-Ras2 I-kappa-B-interacting Ras-like protein 2|NF-kappa-B inhibitor-interacting Ras-like protein 2|NFKB inhibitor interacting Ras-like protein 2|kappa B-Ras protein 2 protein-coding 1323472 NKPD1 NTPase, KAP family P-loop domain containing 1 15935074,14702039,12477932 284353 NM_198478,AC005757,AK090919,BC117228,BC143792,EG328190,EG328439 NP_940880,BAC03547,AAI17229,AAI43793,Q17RQ9,ADR83335 Hs.299256 FLJ33600 NTPase KAP family P-loop domain-containing protein 1 protein-coding 1343355 NKRF NFKB repressing factor This gene encodes a transcription factor that interacts with specific negative regulatory elements (NREs) to mediate transcriptional repression of certain NK-kappa-B-responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. [provided by RefSeq] 1580863 10562553,18029348,19542452,18560378,17592041,17186550,16107696,15489334,15226370,14744032,12477932,12429849,12381793,9224902,18025206,9442378 55922 AC004913,CH471161,AJ011812,AY208891,BC040379,BC047878,BC068514,CR591991,EF158333,EF165090,EF165091,EF165092,EF165093,EF165094,EF216688,EF216689,Y07707,NM_017544,AA845622,AL539002,EF165095,NG_016800,NM_001173487,NM_001173488 NP_060014,EAW89859,EAW89860,CAB56459,AAP43025,AAH40379,AAH47878,AAH68514,ABM16955,ABM55375,ABM55376,ABM55377,ABM55378,ABM55379,ABN11234,ABN11235,CAA68976,Q6NUN2,O15226,ABM55380,NP_001166958,NP_001166959 Hs.437084 ITBA4|NRF NF-kappa-B-repressing factor|OTTHUMP00000023906|nf-kappab repressing factor|transcription factor NRF protein-coding 1345555 NKS1 natural killer cell susceptibility 1 1979875 4819 1353165 NKTR natural killer-tumor recognition sequence This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq] 1580863 20936779,8421688,17081983,14729963,14702039,12477932,8413330,8314596,8144875,1720812 4820 AC006059,AC092047,AF184110,CH471055,AA493639,AB209888,AK097208,AK126234,AK292017,BC020672,BC035644,BC051318,BC072680,BC144518,BU632018,BX538094,BX640751,NM_005385,BX641127,BX957215,BX957218,CR749571,L04288,S65996,CR749415 NP_005376,AAD56402,EAW64659,EAW64660,EAW64661,BAD93125,BAF84706,CAE45859,CAE46057,CAF29506,CAF29508,CAH18366,AAA35734,AAB28499,P30414,Q16060,Q59EC3,Q6M1B6,Q6M1B8,Q6MZH6,Q6N014,CAH18257,AAI67775 Hs.529509 DKFZp686F1754|DKFZp686G0426|DKFZp686J06106|DKFZp686N24126|MGC90527|p104 NK-TR protein|NK-tumor recognition protein|natural killer triggering receptor|natural-killer cells cyclophilin-related protein protein-coding 1603306 NKX1-1 NK1 homeobox 1 7518789 54729 XM_926341,XM_937659,AC118281,X76978 XP_931434,XP_942752,CAA54282,Q15270 Hs.526396 HSPX153|SAX2 HPX-153 homeobox|NK1 transcription factor related, locus 1|NK1 transcription factor-related protein 1|NKX-1.1|homeobox protein 153|homeobox protein SAX-2 protein-coding 1315537 NKX1-2 NK1 homeobox 2 15146197,10681422 390010 NM_001146340,AL445237,CH471066 NP_001139812,EAW49270,Q9UD57 Hs.712041 C10orf121|bB238F13.2 NK1 transcription factor related, locus 2|NK1 transcription factor-related protein 2|NKX-1.1|Sax1-like|homeobox protein SAX-1 protein-coding 732483 NKX2-1 NK2 homeobox 1 729951,1580863,2290483,1600157,1600158 7711080,7713914,19506552,19365834,19336474,19329538,19198613,19176457,19064983,19047914,19011567,18958156,18957494,18788921,18682709,18661567,18487360,18391950,18379122,18239190,18212743,18071837,18059234,17765926,17702043,17671725,17640327,17616654,17413979,17412341,17220277,17182767,17044090,16980598,16960125,16630564,16613858,16565516,16461352,16314749,16260629,16220345,15955952,15929662,15548547,15489334,15485815,15449938,15279903,15271884,15173172,15098009,14970209,14720435,14633512,12923324,12684771,12499091,12477932,12441357,12408771,12161428,12051643,12040027,11971878,11957142,11953175,11923479,11854319,11854318,11836702,11733512,11713256,11438542,11274148,11076796,10733581,10617585,9988700,9545595,9396717,8889548,7711079,1976511,9582279,20734064,20042854,20701785,11152647,14960358,1735431,17474147,18855882,18997617,19293183,19483637,19525896,19578049,19730683,19740516,19906647,20020530,20157192,20518411,7559607,7635972,8675988 729951,2290483,1600157,1600158 7080 NM_001079668,NM_003317,AL132857,CH471078,D50739,U19816,BC006221,BE796718,BM970838,BT009773,CR600885,CR604190,D50740,D50741,U19756,U33749,U43203,X82850,U33627,BM970287,NG_013365 NP_001073136,NP_003308,EAW65856,EAW65857,EAW65858,EAW65859,BAA23527,AAC50125,AAA83233,AAH06221,AAP88775,BAA23529,BAA23528,AAA86099,AAB52381,AAA89066,CAA58053,O14956,P43699,Q13306,ABM83890,ABM87210 Hs.94367 BCH|BHC|NK-2|NKX2.1|NKX2A|TEBP|TITF1|TTF-1|TTF1 NK-2 homolog A|homeobox protein NK-2 homolog A|homeobox protein Nkx-2.1|thyroid nuclear factor 1|thyroid transcription factor 1 protein-coding 1318213 NKX2-2 NK2 homeobox 2 The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq] 2306244,1580863 18414662,17335795,16873704,16697960,15489334,14573534,12477932,11780052,10818213,10772886,9703340,1346742,18029348,19011242,18987169,20599218 2306244 4821 NM_002509,AF019414,AF019415,AF184045,AL133325,CH471133,BC075092,BC075093,BM314196,BQ632044,CA772329,BU070383 NP_002500,AAC83132,AAG16976,CAC00770,EAX10183,AAH75092,AAH75093,O95096,Q9HBZ5,ABZ92170 Hs.516922 NKX2.2|NKX2B NK-2 homolog B|NK2 transcription factor related, locus 2|NK2 transcription factor-like protein B|homeobox protein NK-2 homolog B|homeobox protein Nkx-2.2 protein-coding 1318340 NKX2-3 NK2 transcription factor related, locus 3 (Drosophila) NKX2C is a member of the NKX family of homeodomain-containing transcription factors, which are implicated in many aspects of cell type specification and maintenance of differentiated tissue functions. See Harvey (1996) [PubMed 8812123] for a review of the structure, regulation, function, and evolution of NK2 homeobox genes with an emphasis on their roles in heart development.[supplied by OMIM] 1580863 16385451,19683022,19861958,20228798,20473688,19760754,20211142,20886065,21049557,21072187,19422935,19174780,18936107,18587394,18438406,18438405,17554300,17554261,15489334,15164054,12477932,12141427,11457859,8812123,21102463,20165982,20188614,20228799 159296 AL513542,NG_016854,NM_145285,AF229630,AF229631,AL353719,CH471066,AK300856,AK313485,BC025788,BI764885 NP_660328,AAF44651,CAI16899,EAW49867,BAG62506,AAH25788,Q8TAU0 Hs.243272 CSX3|NK2.3|NKX2.3|NKX2C|NKX4-3 homeobox protein NK-2 homolog C|homeobox protein Nkx-2.3 protein-coding 1343785 NKX2-4 NK2 homeobox 4 11780052,10818213,1346742 644524 NM_033176,AF202037,AL133325,AL158013,CH471133 NP_149416,AAG35617,CAH71494,EAX10185,Q9H2Z4 Hs.456662 NKX2.4|NKX2D NK-2 homolog D|NK2 transcription factor homolog D|NK2 transcription factor related, locus 4|homeobox protein NK-2 homolog D|homeobox protein Nkx-2.4 protein-coding 1606841 NKX2-5 NK2 transcription factor related, locus 5 (Drosophila) Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It has been demonstrated that a Drosophila homeobox-containing gene called 'tinman' is expressed in the developing dorsal vessel and in the equivalent of the vertebrate heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting that tinman is essential for Drosophila heart formation. Furthermore, abundant expression of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a homeodomain sequence identical to that of Csx and is expressed only in the heart, again suggesting that CSX plays an important role in human heart formation.[supplied by OMIM] 18579533,9858576,11431700,11889119,15653675,18079734,19479054,19371212,19302747,19181906,19073351,19049681,18997347,18976153,18939937,18689573,18547965,18492690,18219441,18084293,18076106,17891520,17891434,17584735,17308084,16418214,16138909,16137232,15917268,15649947,15542826,15489334,15363409,15342699,15340050,7665173,12845333,20606036,20725931,15161646,14607454,14500364,12858532,12858530,12798584,12775767,12499378,12477932,12414819,12122109,12074273,12023302,11714651,10948187,10903346,10587520,10206974,9748262,9651244,9312027,8900537,8887666,19913121,20628086,20807224,18851995,20211142,20932824,16556596,15109497,16344560,16678093,18983250,19464101,19533775,19564151,19595143,19948535,20021795,20022124,20062060,20137692,20157192,20456451,20487506 1482 NM_004387,AC008412,CH471062,AB021133,AK290615,BC025711,U34962,AI609745,AK297844,AK307218,AK307247,AK307249,AK309495,DA559427,NG_013340,NM_001166175,NM_001166176 NP_004378,EAW61404,BAA35181,BAF83304,AAH25711,AAC50470,P52952,ABM84239,ABM85030,ABM87626,BAG60178,NP_001159647,NP_001159648 Hs.54473 CHNG5|CSX|CSX1|FLJ52202|FLJ97166|FLJ97195|FLJ97197|FLJ99536|NKX2.5|NKX2E|NKX4-1 cardiac-specific homeobox 1|homeobox protein CSX|homeobox protein NK-2 homolog E|homeobox protein Nkx-2.5|tinman paralog protein-coding 1603362 NKX2-6 NK2 transcription factor related, locus 6 (Drosophila) Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It has been demonstrated that a Drosophila homeobox-containing gene called 'tinman' is essential for development of the heart-like dorsal vessel. NKX2-6 is a vertebrate homolog of 'tinman' (Newman and Krieg, 1998 [PubMed 9621430]).[supplied by OMIM] 15649947,18939937,15146197,9621430,7665173 137814 NM_001136271,AC012574 NP_001129743,A6NCS4 Hs.532654 CSX2|NKX2F|NKX4-2 homeobox protein NK-2 homolog F|homeobox protein NK2 homolog F|homeobox protein NKX2.6|homeobox protein Nkx-2.6|tinman paralog protein-coding 1321643 NKX2-8 NK2 homeobox 8 1580863 9446603,12167706,19279207,15235609,12477932,11252173 26257 NM_014360,AF000297,AL079303,AF000295,AK313537,BC041090 NP_055175,AAC71082,AAC71081,BAG36314,AAH41090,O15522 Hs.234763 NKX2.8|NKX2H|Nkx2-9 NK-2 homolog 8|NK-2 homolog H|NK2 transcription factor related, locus 8|homeobox protein NK-2 homolog H|homeobox protein Nkx-2.8 protein-coding 1313354 NKX3-1 NK3 homeobox 1 The homeodomain-containing transcription factor NKX3-1 is a putative prostate tumor suppressor that is expressed in a largely prostate-specific and androgen-regulated manner. Loss of NKX3-1 protein expression is a common finding in human prostate carcinomas and prostatic intraepithelial neoplasia.[supplied by OMIM] 1580863 17234752,11137288,9537602,19266349,19258508,18974119,18757402,18454873,18360715,18296735,18077445,17486276,17311278,17202838,17108105,16845664,16817226,16814806,16697957,16581776,16519150,16442598,16413692,16397218,16382041,16201967,15880262,15734999,15691383,15523673,15489334,15311057,14648854,14633588,12661036,12477932,12450213,11980664,11809674,11085535,10993896,10559189,9377551,20588175,9226374,20363913,20855495,18794125,20479932,20564319,19915572,20676098,19263243,19453261,19462257,19767753,19780584,19797053,19886863,20395202 4824 NM_006167,AC012574,AC051642,CH471080,AF247704,AF249669,AF249670,AF249671,AF249672,BC074863,BC074864,U80669,U91540 ABZ92171,NP_006158,EAW63613,AAG09781,AAG39735,AAG39736,AAG39737,AAG39738,AAH74863,AAH74864,AAB38747,AAB68662,Q99801 Hs.55999 BAPX2|NKX3|NKX3.1|NKX3A NK homeobox, family 3, A|NK3 transcription factor homolog A|NK3 transcription factor related, locus 1|homeobox protein NK-3 homolog A|homeobox protein Nkx-3.1 protein-coding 1353604 NKX3-2 NK3 homeobox 2 This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. 1580863 9344671,15489334,15024065,12477932,11076863,9426254,9256352,20004766 579 NM_001189,AC006445,AF005260,AF009802,CH471069,U89845,AF009801,BC111966,NG_023192 NP_001180,AAC39536,AAB82784,EAW92714,AAB49696,AAB82783,AAI11967,P78367,AAI11927,AAI18498,ABZ91996 Hs.590927 BAPX1|MGC138171|NKX3.2|NKX3B|SMMD bagpipe homeobox protein homolog 1|homeobox protein NK-3 homolog B|homeobox protein Nkx-3.2 protein-coding 1346979 NKX6-1 NK6 homeobox 1 In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM] 1580863,2311166 10567713,18754095,18347054,16873704,15839736,15056733,9119408,20106981 2311166 4825 NM_006168,AC096766,CH471057,U66797,U66798,U66799 NP_006159,EAX05949,AAD11962,P78426,AAI60030 Hs.546270 NKX6.1|NKX6A NK homeo box, family 6, member A|NK homeobox, family 6, A|NK6 transcription factor homolog A|NK6 transcription factor related, locus 1|homeobox protein NK-6 homolog A|homeobox protein Nkx-6.1 2316335 GLUCO232_H protein-coding 1316381 NKX6-2 NK6 homeobox 2 1580863 11210186,12477932 84504 NM_177400,AF184215,AL392043,CH471211,BC101635,BC104823,BF509028 NP_796374,AAK13251,CAI39943,EAW61308,AAI01636,AAI04824,Q9C056 Hs.134013 GTX|MGC126684|NKX6.2|NKX6B NK homeobox family 6, B|NK6 transcription factor related, locus 2|glial and testis-specific homeobox protein|homeobox 6B|homeobox protein NK-6 homolog B|homeobox protein Nkx-6.2 protein-coding 1605569 NKX6-3 NK6 homeobox 3 The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM] 16326147,12477932 157848 NM_152568,AC009630,CH471080,AK057898 NP_689781,EAW63251,EAW63252,BAB71610,A6NJ46,AAI56230,AAI57003 Hs.647132 FLJ25169|NKX6.3 NK6 transcription factor related, locus 3|homeobox protein Nkx-6.3 protein-coding 1604007 NLE1 notchless homolog 1 (Drosophila) 17041588,15489334,14702039,12477932,12429849,11124703,16189514,18029348 54475 CR621507,NM_018096,AC022916,CH471147,AB209111,AJ005257,AK001320,AK303253,AK304508,AW451963,BC002884,BC012075,BI752930,CR590297,CR598429,CR606426,CR615350,NM_001014445,HC250965,HC311154,CR623995,CR624634 CBJ05780,CBJ21232,NP_001014445,NP_060566,EAW80165,EAW80166,EAW80167,BAD92348,CAA06444,BAA91621,BAG64336,BAG65315,AAH02884,AAH12075,Q59GJ8,Q9NVX2 Hs.85570 FLJ10458|Nle Notchless gene homolog|OTTHUMP00000163849|notchless protein homolog 1 protein-coding 736453 NLGN1 neuroligin 1 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq] 1580863 12477932,19086053,18987618,16882988,16641997,16077734,15797875,15489334,14702039,14522992,10996085,10892652,10819331,10470851,9278515,8576240,7736595,20677014,19598235,19730411,19736351,20034102,20201926,20379614,20398908,20516156 22871 NM_014932,AC008082,AC008120,AC018456,AC069531,AC092923,AC092967,AC110871,AC131158,CH471052,AB028993,AK074522,AK307813,BC032555,CB052838,GQ489206 NP_055747,EAW78453,EAW78454,EAW78455,EAW78456,BAA83022,BAC11039,AAH32555,Q8N2Q7,ABM82165,ABW03367,ADB12633 Hs.478289 KIAA1070|MGC45115|NL1 OTTHUMP00000211275|OTTHUMP00000211276|neuroligin-1 protein-coding 732705 NLGN2 neuroligin 2 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq] 1580863 10892652,19086053,12669065,12477932,10996085,10819331,10767552,10718198,9647694,9278515,8576240 57555 NM_020795,AC113189,CH471108,AB037787,AF376802,BC069217 NP_065846,EAW90195,EAW90196,EAW90197,BAA92604,AAM46111,Q8NFZ4,AAI72284 Hs.26229 KIAA1366 neuroligin-2 protein-coding 733571 NLGN3 neuroligin 3 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but their full length sequences have not been determined. [provided by RefSeq] 1580863 16648374,15389766,17292328,12669065,15150161,18029348,19645625,19406211,19058789,18628683,18189281,16508939,16303743,16077734,15622415,15274046,14702039,12477932,11329178,10996085,10819331,10767552,9751164,9325340,9278515,8576240,15342556,20034102,20227402 54413 NM_018977,AF217413,AL590764,CH471132,AB040913,AF217411,AF217412,AK074814,AK296217,AK299567,AK299669,AK314699,BC028738,BC051715,BX641059,BP201014,GQ489207,NG_015874,NM_001166660,NM_181303 NP_061850,AAF71232,AAF71233,EAX05307,EAX05308,EAX05309,EAX05310,EAX05311,EAX05312,EAX05313,BAA96004,AAF71230,AAF71231,BAC11226,BAH12284,BAH13067,BAH13096,BAG37248,AAH28738,AAH51715,CAE46030,Q4G160,Q6MZK0,Q86V51,Q9NZ94,ADB12634,NP_001160132,NP_851820 Hs.438877 ASPGX1|AUTSX1|HNL3|KIAA1480 OTTHUMP00000023500|gliotactin homolog|neuroligin-3 protein-coding 1603020 NLGN4X neuroligin 4, X-linked This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs, large (Drosophila) homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 18093521,11368788,12669065,15150161,17292328,19645625,19598235,19125102,19058789,18628683,18231125,18189281,18029348,16648374,16508939,16077734,15622415,15489334,15389766,15340161,15274046,14963808,14702039,12975309,12477932,10996085,10574462,9278515,20543817,20714171,16377159,19545860,19726642,19736351,20436377 57502 NM_181332,NM_020742,NG_008881,AC078989,AC079173,AC097259,AC112654,CH471074,AB033086,AF376803,AK022621,AK055471,AK291036,AY358562,BC034018,BM995742,CR608080 NP_851849,NP_065793,EAW98738,EAW98739,EAW98740,EAW98741,BAA86574,AAM46112,BAG51098,BAG51523,BAF83725,AAQ88925,AAH34018,Q8N0W4,ABM84537,ABW03469 Hs.21107 ASPGX2|AUTSX2|HLNX|HNLX|KIAA1260|MGC22376|NLGN|NLGN4 OTTHUMP00000022864|neuroligin X|neuroligin-4, X-linked protein-coding 1351370 NLGN4Y neuroligin 4, Y-linked Neuroligins, such as NLGN4Y, are cell adhesion molecules present at the postsynaptic side of the synapse and may be essential for the formation of functional synapses (Jamain et al., 2003 [PubMed 12669065]).[supplied by OMIM] 1580863 17292328,19605777,18628683,18029348,16077734,15489334,12815422,12669065,12477932,10996085,10231032,8889548 22829 NM_014893,NM_001164238,NR_028318,NR_028319,AC010726,AC010879,AC010979,AC011903,CH471155,AA558153,AB023168,AF376804,AK295117,BC032567,BC113525,BC113551,BF222878,BM722570,BX537428,DC360504 NP_055708,NP_001157710,EAW91620,EAW91621,EAW91622,EAW91623,EAW91624,EAW91625,BAA76795,AAM46113,BAG58145,AAH32567,AAI13526,AAI13552,CAD97670,Q8N5B6,Q8NFZ3 Hs.439199,Hs.694600 KIAA0951 OTTHUMP00000034786|OTTHUMP00000034788|neuroligin 4, Y linked|neuroligin Y|neuroligin-4, Y-linked protein-coding 1321854 NLK nemo-like kinase 1580863 17894482,18029348,19345186,19514049,19690946,20061393,20118921,20379614,16714285,15004007,18765672,17418100,16713569,16344560,15764709,15489334,15308626,15082531,14960582,14720327,12901858,12556497,12482967,12477932,12107411,11707333,10863097,10524757,9448268,20844743,8889548,16055500,20512928 51701 NM_016231,AC061975,AC090287,AC100852,CH471159,DQ316259,AF180819,AF197898,AK024686,AK315315,AL036279,AL161970,BC064663,BM723604,BQ636970,DA224552,DA573077,U69562 NP_057315,EAW51060,EAW51061,EAW51062,EAW51063,ABC40748,AAD56013,AAF04857,BAG37718,AAH64663,Q9UBE8 Hs.208759 DKFZp761G1211|FLJ21033 nemo like kinase|serine/threonine-protein kinase NLK protein-coding 731408 NLN neurolysin (metallopeptidase M3 family) Neurolysin (EC 3.4.24.16) is an enzyme involved in the metabolic inactivation of bioactive peptides (Garrido et al., 1999 [PubMed 10235115]).[supplied by OMIM] 1580863 20877624,17251185,14702039,12609826,12477932,12168954,10574462,10235115,9735321,9257187,9003076,8869556,7836437,18316326,20379614 57486 NM_020726,AC008958,AC016643,CH471137,AB033052,AJ300837,AK027602,AK096416,AK292803,AL834241,BC001644,BC004985,CR613085,AK026655,CA441264,CB992921,CR620384 NP_065777,EAW51338,EAW51339,EAW51340,BAA86540,CAC27329,BAB55224,BAG53285,BAF85492,CAD38918,AAH01644,AAH04985,Q8NDD9,Q96K48,Q9BQD0,Q9BYT8,BAG72651 Hs.247460 AGTBP|DKFZp564F123|EP24.16|FLJ23002|KIAA1226|MEP|MOP OTTHUMP00000222587|OTTHUMP00000222651|angiotensin binding protein|angiotensin-binding protein|endopeptidase 24.16|microsomal endopeptidase|mitochondrial oligopeptidase M|neurolysin, mitochondrial|neurotensin endopeptidase protein-coding 1604212 NLRC3 NLR family, CARD domain containing 3 15705585,12766759,20307617 197358 NM_178844,AC004494,AC006111,CH471112,AF501291,AF501292,AK074109,AK090431,AK090476,AY601811,BC027864,BK001112,FJ889357 NP_849172,EAW85348,EAW85349,EAW85350,EAW85351,AAM22459,AAM22460,BAB84935,BAC03412,BAC03457,AAT48367,DAA01245,ACP40993,Q7RTR2,Q8NF06 Hs.592091 CLR16.2|FLJ00348|NOD3 CARD15-like protein|NOD-like receptor C3|caterpiller 16.2|caterpiller protein 16.2|nucleotide-binding oligomerization domain protein 3|nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3|protein NLRC3 protein-coding 1320383 NLRC4 NLR family, CARD domain containing 4 In C. elegans, Ced4 binds and activates Ced3, an apoptotic initiator caspase, via caspase-associated recruitment domains (CARDs). Human Ced4 homologs include APAF1 (MIM 602233), NOD1/CARD4 (MIM 605980), and NOD2/CARD15 (MIM 605956). These proteins have at least 1 N-terminal CARD domain followed by a centrally located nucleotide-binding domain (NBD or NACHT) and a C-terminal regulatory domain, found only in mammals, that contains either WD40 repeats or leucine-rich repeats (LRRs). CARD12 is a member of the Ced4 family and can induce apoptosis.[supplied by OMIM] 1580863 12646168,17418785,20349122,15882992,11472070,15107016,15030775,11374873,18453601,17620097,16817903,15580302,15528373,15489334,14702039,12975309,12545166,12477932,11390368 58484 NM_021209,AL121653,CH471053,AF376061,AK095467,AK292673,AK314762,AL389934,AY027787,AY027788,AY027789,AY027790,AY032589,AY035391,AY358152,BC031555,AW337918,DN998613,NM_001199138,NM_001199139 NP_067032,EAX00451,EAX00452,EAX00453,EAX00454,EAX00455,AAK53443,BAG53062,BAF85362,BAG37300,CAB97523,AAK14776,AAK14777,AAK14778,AAK14779,AAK38730,AAK59843,AAQ88519,AAH31555,Q9NPP4,ACE87483,ACE86796,NP_001186067,NP_001186068 Hs.574741 CARD12|CLAN|CLAN1|CLANA|CLANB|CLANC|CLAND|CLR2.1|IPAF CARD, LRR, and NACHT-containing protein|ICE-protease activating factor|NLR family CARD domain-containing protein 4|NOD-like receptor C4|OTTHUMP00000201170|OTTHUMP00000201172|caspase recruitment domain family, member 12|caspase recruitment domain-containing protein 12|ice protease-activating factor|nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 protein-coding 1604572 NLRC5 NLR family, CARD domain containing 5 14702039,12615073,12477932,20061403,20434986,20571754,20610642,20639463,20538593 84166 AC009090,AC023825,CH471092,AF389420,AK025212,AK025362,AK027414,AK027416,AK074133,AK074182,AK090439,AK097030,AL704292,BC040278,BC050527,BC063566,NM_032206,BX640842,CR609707,CR624150,EF452236,HA637642 NP_115582,EAW82898,EAW82899,EAW82900,EAW82901,EAW82902,AAO59377,BAB15120,BAB55096,BAB55098,BAB84959,BAB85008,BAC03420,AAH50527,AAH63566,CAE45914,ABO40479,Q6MZW3,Q86WI3,Q9H6Y0,AAI56513,AAI72510,CAZ39543 Hs.528836 CLR16.1|FLJ21709|FLJ39711|NOD27|NOD4 NOD-like receptor C5|caterpiller protein 16.1|nucleotide-binding oligomerization domain protein 27|nucleotide-binding oligomerization domain protein 4|nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5|nucleotide-binding oligomerization domains 27|protein NLRC5 protein-coding 1322162 NLRP1 NLR family, pyrin domain containing 1 This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 20800603,15212762,11076957,16575408,19074885,19001869,18946481,18348116,18263805,17637824,17620097,17418785,17377159,17164409,14702039,14691733,14527388,12563287,12477932,12191486,11592035,11472070,11270363,11250163,11113115,10231032,9110174,8781126,8619474,15749123,15107016,19913121,20574744,20628086,20697295,19120479,19223160,19727120,20152874,20370570,20379614,20403135,20502346 22861 NM_033007,NM_033006,NM_014922,NM_033004,NG_011651,AC055839,CH471108,CQ971704,AB023143,AF229059,AF229060,AF229061,AF229062,AF298548,AF310105,NM_001033053,AI819334,AK026393,AK026398,AK310936,AL117470,BC051787,BP391071,FB659864 NP_001028225,NP_127500,NP_127499,NP_055737,NP_127497,EAW90321,EAW90322,EAW90323,EAW90324,EAW90325,EAW90326,EAW90327,CAI40574,BAA76770,AAK00748,AAK00749,AAK00750,AAK00751,AAG15254,AAG30288,BAB15469,BAB15470,CAB55945,AAH51787,Q9C000,Q9H5Z7,Q9H5Z8,CAS01786 Hs.652273 CARD7|CLR17.1|DEFCAP|DEFCAP-L/S|DKFZp586O1822|KIAA0926|NAC|NALP1|PP1044|SLEV1|VAMAS1 NACHT, LRR and PYD containing protein 1|NACHT, LRR and PYD domains-containing protein 1|NACHT, leucine rich repeat and PYD (pyrin domain) containing 1|NACHT, leucine rich repeat and PYD containing 1|caspase recruitment domain protein 7|caspase recruitment domain-containing protein 7|death effector filament-forming Ced-4-like apoptosis protein|nacht, leucine rich repeat and pyd containing 1|nucleotide-binding domain and caspase recruitment domain|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 protein-coding 1316559 NLRP10 NLR family, pyrin domain containing 10 Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq] 1580863 15817483,15489334,15096476,20393137,12563287,12477932,12766759,19544093,20403135 338322 NM_176821,AC044810,CH471064,AY154465,AY489192,BC104957,BK001110,CR622836 NP_789791,EAW68640,AAO18161,AAS67384,AAI04958,DAA01243,Q86W26 Hs.449636 CLR11.1|NALP10|NOD8|PAN5|PYNOD NACHT, LRR and PYD domains-containing protein 10|NACHT, leucine rich repeat and PYD containing 10|nacht, leucine rich repeat and pyd containing 10|nucleotide-binding oligomerization domain protein 8|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10 protein-coding 1349443 NLRP11 NLR family, pyrin domain containing 11 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 12387869,12019269,19010793,15489334,14702039,12615073,12563287,12477932,19074885,20403135 204801 NM_145007,AC008749,AC012310,CH471135,AK090621,AK129784,AK310394,AY095145,AY154466,AY168967,AY168968,AY226382,BC034730,BC036506,BU622142 NP_659444,EAW72415,EAW72416,BAC03490,AAM14632,AAO18162,AAO12532,AAO12533,AAO59428,AAH34730,P59045 Hs.375039 CLR19.6|FLJ26273|NALP11|NOD17|PAN10|PYPAF6|PYPAF7 NACHT, LRR and PYD containing protein 11|NACHT, LRR and PYD domains-containing protein 11|NACHT, leucine rich repeat and PYD containing 11|PAAD- and NACHT-containing protein 10|PAAD- and NACHT-containing protein 10B|PAAD-and NACHT domain-containing protein 10|PYRIN-containing APAF1-like protein 6|nacht, leucine rich repeat and pyd containing 11|nucleotide-binding oligomerization domain protein 17|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 protein-coding 1319748 NLRP12 NLR family, pyrin domain containing 12 This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Alternatively spliced transcript variants encoding distinct isoforms have been described but the full-length nature of some of these has not been determined. [provided by RefSeq] 1580863 19913121,20628086,12019269,16203735,18263805,18230725,18160710,17947705,17620097,17237370,15489334,14702039,12759408,12563287,12477932,11167794,20403135,21048031 91662 NM_144687,NM_033297,NG_008651,AC008753,CH471135,AF231021,AK095460,AK290772,AY095146,AY116204,AY116205,AY116206,AY116207,AY154467,BC028069 NP_653288,NP_150639,EAW72151,EAW72152,EAW72153,EAW72154,EAW72155,EAW72156,EAW72157,AAK14942,BAG53059,BAF83461,AAM18227,AAM75142,AAM75143,AAM75144,AAM75145,AAO18163,AAH28069,P59046,ABM82010,ABM85192 Hs.631573 CLR19.3|FCAS2|NALP12|PAN6|PYPAF7|RNO|RNO2 NACHT, LRR and PYD containing protein 12|NACHT, LRR and PYD domains-containing protein 12|NACHT, leucine rich repeat and PYD containing 12|OTTHUMP00000067227|PYRIN-containing APAF1-like protein 7|monarch 1|monarch-1|nacht, leucine rich repeat and pyd containing 12|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12|regulated by nitric oxide protein-coding 1353277 NLRP13 NLR family, pyrin domain containing 13 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP13, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 12563287,19074885,12766759,20403135 126204 NM_176810,AC011470,AC012310,CH471135,AY154468,BK001108 NP_789780,EAW72419,EAW72420,AAO18164,DAA01241,Q86W25,AAI46296,AAI48743 Hs.446924 CLR19.7|NALP13|NOD14|PAN13 NACHT, LRR and PYD containing protein 13|NACHT, LRR and PYD domains-containing protein 13|NACHT, leucine rich repeat and PYD containing 13|nacht, leucine rich repeat and pyd containing 13|nucleotide-binding oligomerization domain protein 14|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13 protein-coding 1315283 NLRP14 NLR family, pyrin domain containing 14 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq] 1580863 16931801,19074885,16344560,12766759,12563287,20379614,20403135 338323 NM_176822,AC100875,CH471064,AK310900,AY154469,BK001107,DB226777 NP_789792,EAW68666,EAW68667,EAW68668,AAO18165,DAA01240,Q86W24,AAI56269 Hs.449637 CLR11.2|GC-LRR|NALP14|NOD5|PAN8 NACHT, LRR and PYD containing protein 14|NACHT, LRR and PYD domains-containing protein 14|NACHT, leucine rich repeat and PYD containing 14|nucleotide-binding oligomerization domain protein 5|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14 protein-coding 1344725 NLRP2 NLR family, pyrin domain containing 2 NALP proteins, such as NALP2, are characterized by an N-terminal pyrin (MIM 608107) domain (PYD) and are involved in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors (see TLR4; MIM 603030). They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 15030775,19534089,19300480,19103770,19074885,18772453,18369178,18056399,15817483,15489334,15456791,14702039,12563287,12477932,12387869,12019269,11270363,11250163,20800603,9373149,8125298,16344560,17178784,19900269,20403135 55655 NM_017852,AC011476,CH471135,AB209300,AF269288,AF298547,AF310106,AF464764,AK000517,AK000784,AK025952,AK223253,AK223269,AK292681,AK302989,BC001039,BC003592,BC039269,DA856893,DB046128,NM_001174081,NM_001174082,NM_001174083 NP_060322,EAW72317,EAW72318,EAW72319,EAW72320,BAD92537,AAG23171,AAG15253,AAG30289,AAL69962,BAA91223,BAA91377,BAB15293,BAD96973,BAD96989,BAF85370,BAG64129,AAH01039,AAH03592,AAH39269,Q8WY49,Q9NX02,ABM85995,ABW03764,NP_001167552,NP_001167553,NP_001167554 Hs.369279 CLR19.9|FLJ20510|NALP2|NBS1|PAN1|PYPAF2 NACHT, LRR and PYD containing protein 2|NACHT, LRR and PYD domains-containing protein 2|NACHT, leucine rich repeat and PYD containing 2|PYRIN domain and NACHT domain-containing protein 1|PYRIN-containing APAF1-like protein 2|nacht, leucine rich repeat and pyd containing 2|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2|nucleotide-binding site protein 1 protein-coding 1605822 NLRP2P NLR family, pyrin domain containing 2 pseudogene 12766759 286430 NG_002752,AL807813,BK001116 NALP2P|NOD24 pseudo 1318014 NLRP3 NLR family, pyrin domain containing 3 This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq] 1600862,1580863 19913121,20179743,20628086,18719602,19120479,19120481,19223160,19570822,19579027,19648107,19767079,19784369,19805629,19811501,19826485,19890791,20002790,20011700,20031576,20038581,20060594,20131254,20131270,20182451,20237496,20370570,20403135,20421639,20502346,20008285,11042152,10741953,9653160,15107016,20407038,20135584,20506209,20884650,20980503,20148899,18063752,18005730,17907925,17763411,17697637,17620097,17599094,17592301,17393462,17284928,17213252,17178985,17164409,17164343,17046979,16868559,16710414,16642435,16344560,16234278,16037825,15593220,15334500,15071491,15020601,14630794,12673085,12615073,12563287,12522564,12483741,12477932,12355493,11992256,11967258,11687797,15967716,15030775,12032915,12093792,14662828,11786556,19454352,19414800,19364881,19319132,19254587,19201894,19098911,19058789,19001869,18772453,18576390,18311798,18263599,18189199,18175851,18174231,18084703,18080732,19824913,20800603,20962258,20976713,21035374,20401456,20401526,20668705,20688930,20808838 1600862 114548 NM_001079821,NM_004895,NM_001127462,NM_183395,NG_007509,AB120959,AB120960,AB120961,AB120962,NM_001127461,AC104335,AL606804,AY051112,AY051117,CH471148,AB208891,AF054176,AF410477,AF418985,AF420469,AF427617,AF468522,AK027194,AK314998,AL601856,AY092033,AY422168,BC117211,BC143359,BC143362,BC143363,CR609473,DA244290 NP_001120933,NP_001073289,NP_004886,NP_001120934,NP_899632,BAD51451,BAD51452,BAD51453,BAD51454,CAI17153,CAI17154,CAI17155,AAL12497,AAL12498,EAW77183,EAW77184,EAW77185,EAW77186,EAW77187,BAD92128,AAC39910,AAL33908,AAL14640,AAL65136,AAL33911,AAL78632,BAG37494,AAM14669,AAQ98889,AAI17212,AAI43360,AAI43363,AAI43364,Q65Z67,Q96P20 Hs.159483 AGTAVPRL|AII|AII/AVP|AVP|C1orf7|CIAS1|CLR1.1|FCAS|FCU|FLJ95925|MWS|NALP3|PYPAF1 AII/AVP receptor-like|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3|NACHT, LRR and PYD containing protein 3|NACHT, LRR and PYD domains-containing protein 3|OTTHUMP00000038411|PYRIN-containing APAF1-like protein 1|angiotensin/vasopressin receptor AII/AVP-like|caterpiller protein 1.1|cold autoinflammatory syndrome 1|cold autoinflammatory syndrome 1 protein|cryopyrin|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 protein-coding 1606100 NLRP3P NLR family, pyrin domain containing 3 pseudogene 12766759 347402 NG_002753,AL034399,BK001115 NOD13 pseudo 1323147 NLRP4 NLR family, pyrin domain containing 4 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 19074885,15489334,15107016,14702039,12563287,12477932,12387869,12093792,12019269,12182447,20403135 147945 NM_134444,AC012310,CH471135,AF442488,AF479747,AF482706,AK056688,AK315003,AY072792,BC012789,BC016443,BC021272,BC050326,BE302040,BU632773 NP_604393,EAW72417,EAW72418,AAL35293,AAL87104,AAL88672,BAB71254,BAG37498,AAL68396,AAH16443,AAH50326,Q96MN2 Hs.631533 CLR19.5|CT58|FLJ32126|NALP4|PAN2|PYPAF4|RNH2 NACHT, LRR and PYD containing protein 4|NACHT, LRR and PYD domains-containing protein 4|NACHT, leucine rich repeat and PYD containing 4|PAAD and NACHT-containing protein 2|PYRIN and NACHT-containing protein 2|PYRIN-containing APAF1-like protein 4|cancer/testis antigen 58|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4|ribonuclease inhibitor 2 protein-coding 1348361 NLRP5 NLR family, pyrin domain containing 5 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq] 1580863 19192343,19074885,18322283,12563287,11925379,19542546,20379614,20403135,20734064 126206 NM_153447,AC011470,AC024580,AY054986,AY154460 NP_703148,AAL15549,AAO18156,P59047,AAI41432 Hs.356872 CLR19.8|MATER|NALP5|PAN11|PYPAF8 NACHT, LRR and PYD domains-containing protein 5|NACHT, leucine rich repeat and PYD containing 5|mater protein homolog|maternal antigen that embryos require|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 protein-coding 1350327 NLRP6 NLR family, pyrin domain containing 6 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP6, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 12633874,12563287,12387869,12019269,20237496,20403135 171389 NM_138329,AC136475,CH471278,AF479748,AK292668,AY154461 NP_612202,EAW61233,AAL87105,BAF85357,AAO18157,P59044 Hs.352611 CLR11.4|NALP6|PAN3|PYPAF5 NACHT, LRR and PYD containing protein 6|NACHT, LRR and PYD domains-containing protein 6|NACHT, leucine rich repeat and PYD containing 6|PYRIN-containing APAF1-like protein 5|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6 protein-coding 1604725 NLRP7 NLR family, pyrin domain containing 7 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 16874523,16501554,16462743,15817483,15596043,15057824,12766759,12563287,12477932,12387869,12019269,10072436,19066229,18751440,18039680,17579354,19246479,19650864,19888692,20403135,20800603 199713 NM_206828,NM_139176,NM_001127255,NG_008056,AC011476,CH471135,AF464765,AK298630,AK302655,AK313964,AY154462,BC109124,BC109125,BK001113,BX363944,CR594199,CR607466,DC425389 NP_996611,NP_631915,NP_001120727,EAW72313,EAW72314,EAW72315,EAW72316,AAL69963,BAG60806,BAG63894,AAO18158,AAI09125,AAI09126,DAA01246,Q32MH8,Q32MH9,Q8WX94 Hs.351118 CLR19.4|FLJ94610|HYDM|MGC126470|MGC126471|NALP7|NOD12|PAN7|PYPAF3 NACHT, LRR and PYD containing protein 7|NACHT, LRR and PYD domains-containing protein 7|NACHT, leucine rich repeat and PYD containing 7|PYRIN-containing Apaf1-like protein 3|nucleotide-binding oligomerization domain protein 12|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 protein-coding 1347943 NLRP8 NLR family, pyrin domain containing 8 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP8, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 19074885,12766759,12563287,20379614,20403135 126205 NM_176811,AC011470,AY154463,BK001109 NP_789781,AAO18159,DAA01242,Q86W28,AAI48609,AAI53175 Hs.446925 CLR19.2|NALP8|NOD16|PAN4 NACHT, LRR and PYD containing protein 8|NACHT, LRR and PYD domains-containing protein 8|NACHT, leucine rich repeat and PYD containing 8|PYRIN and NACHT-containing protein 4|nacht, leucine rich repeat and pyd containing 8|nucleotide-binding oligomerization domain protein 16|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8 protein-coding 1319070 NLRP9 NLR family, pyrin domain containing 9 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq] 1580863 12766759,12563287,12477932,20403135 338321 NM_176820,AC008749,CH471135,AY154464,BC136583,BK001114 NP_789790,EAW72411,EAW72412,AAO18160,AAI36584,DAA01247,Q7RTR0 Hs.661568 CLR19.1|NALP9|NOD6|PAN12 NACHT, LRR and PYD containing protein 9|NACHT, LRR and PYD domains-containing protein 9|NACHT, leucine rich repeat and PYD containing 9|PYRIN and NACHT-containing protein 12|nucleotide-binding oligomerization domain protein 6|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9 protein-coding 1604698 NLRP9P NLR family, pyrin domain containing 9 pseudogene 12766759 347933 NG_002754,AC069262,BK001117 NOD25 pseudo 1606225 NLRX1 NLR family member X1 This gene encodes a member of the NLR family. Alternative splicing has been observed at this gene locus and two transcript variants, encoding distinct isoforms, have been identified. 18219313,18200010,14702039,12766759,12477932,9373149,8125298,18466630,18397740,19692591,19913121,20628086,20877624 79671 CH471065,AB094095,AK025131,AK056454,AK095247,AK225223,AK291716,AL049456,AY245437,BC013199,BC023974,BC110890,BK001111,BX647705,EF452237,NM_024618,NM_170722,AP002956,AK303002 EAW67467,EAW67468,EAW67469,BAC76049,BAB15075,BAG51714,BAG53014,BAF84405,CAH56420,AAP31240,AAH13199,AAI10891,DAA01244,ABO40480,Q659G8,Q86UT6,NP_078894,NP_733840,BAH13875 Hs.524082 CLR11.3|DLNB26|FLJ21478|MGC131937|MGC21025|NOD26|NOD5|NOD9 NLR family member X1|NLR family, X1|NOD-like receptor X1|caterpiller protein 11.3|nucleotide-binding oligomerization domain protein 26|nucleotide-binding oligomerization domain protein 5|nucleotide-binding oligomerization domain protein 9|nucleotide-binding oligomerization domain, leucine rich repeat containing X1 protein-coding 1347751 NM neutrophil migration 4827 1315040 NMB neuromedin B 1642059,1642062,1580863 2458345,18271693,17766645,17299381,15585758,15528253,15489334,15158442,12477932,11194934,10544247,8392057,8253343,7851890,4041812,1720612,1717141,1488105,16754659,18240029,20010906 1642059,1642062 4828 NM_205858,AC048382,CH471101,AL110112,BC007407,BC007431,NM_021077,BC008603,BI858080,BI962836,M21551 NP_995580,EAX01950,EAX01951,AAH07407,AAH07431,NP_066563,AAH08603,AAA59934,P08949 Hs.386470,Hs.722288 MGC17211|MGC2277|MGC3936 neuromedin-B protein-coding 731785 NMBR neuromedin B receptor Neuromedin B receptor binds neuromedin B, a potent mitogen and growth factor for normal and neoplastic lung and for gastrointestinal epithelial tissue. 1580863 10544247,9632639,8822519,8392057,8253343,7723750,1655761,18029348,21060863,7838118,8391296,15528253,12477932,20736409,16754659,18240029 4829 AAB27330 NM_002511,AL589674,CH471051,BC095542,M73482,GU727635 NP_002502,CAH70473,EAW47886,AAH95542,AAA59939,AAB27330,P28336,Q4VBL0,ADU87637 Hs.654478 NMB-R|neuromedin-B receptor|neuromedin-B-preferring bombesin receptor protein-coding 1348373 NMD3 NMD3 homolog (S. cerevisiae) Ribosomes are composed of 60S and 40S subunits that are assembled in the nucleolus and exported to the cytoplasm through nuclear pore complexes in the nuclear envelope. NMD3 is an adaptor for 60S subunit export via the CRM1 (XPO1; MIM 602559) pathway (Trotta et al., 2003 [PubMed 12773398]).[supplied by OMIM] 15635413,14702039,12773398,12724356,12477932,10810093,9373149,8125298,18029348,19615732 51068 AK024706,AK094749,AK225664,AK308865,BC013317,NM_015938,AC108738,CH471052,AF132941,AK021775,AK296710 BAG52923,AAH13317,Q96D46,ACE87765,ACE87085,NP_057022,EAW78618,EAW78619,AAD27716,BAG51047,BAG59303 Hs.598836 CGI-07|FLJ21053 60S ribosomal export protein NMD3|OTTHUMP00000213965|OTTHUMP00000213966|hNMD3 protein-coding 1353012 NMD3P nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene 497046,441238 AC092634,NG_016698 NMD3P pseudo 3277425 NMD3P2 nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene 2 100286929 AC092447,NG_022534 pseudo 735393 NME1 non-metastatic cells 1, protein (NM23A) expressed in This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq] 2299059,2299061,2299064,2299063,2299062,2299081,2299072,2299071,2299069,2299065,2299077,2299066,1580863,1600229 20570897,17695492,17688968,17655525,17591363,17359290,17348207,17197349,17155928,17103045,17008916,16957985,16944571,16891807,16814409,16739125,16631833,16531762,16466905,16415009,16317582,16313181,16277028,16232196,16189514,15882758,15870434,2015608,11231635,18307927,20877624,20209495,20671611,20145075,12972261,11555662,17314099,1851158,17975005,16862176,16130169,19186179,19183483,19026164,18996649,18815136,18810774,18728402,18700747,18676749,18668641,18635542,18470881,18440302,18408655,18330957,18301251,18239814,18219290,18154714,18089805,18058029,17918157,17885583,15833843,15777972,15757202,15684389,15650182,15645378,15592684,15568401,15512982,15489334,15334673,15280446,15129904,15073128,15040016,14960567,14664140,14499630,12910292,12883690,12859952,12684753,12669312,12628186,12624546,12601555,12524539,12490715,12477932,12474051,12452062,12405283,12200143,12174914,12163590,12137595,12135660,12105213,12007505,11998956,11963831,11960382,11935309,11919189,11918081,11835509,11776896,11726210,11687967,11319942,11280768,11274357,11042679,10618642,10611312,10602478,10512675,9593706,9513729,9488696,9480811,8858107,8810265,8395939,8392752,8270257,8245015,8047138,7916650,2566996,2509941,2056128,20403806,20559153,20713695,20841469,19664078,20599259,14558955,16011248,16044917,17578003,18029348,19024519,19060904,19170058,19263457,19332021,19513384,19615732,19619546,19655221,19664043,19724852,19852809,19951590,19956735,20099494,20101217,20113651,20304626,20508983 2299059,2299061,2299064,2299063,2299062,2299081,2299072,2299071,2299069,2299065,2299077,2299066,1600229 4830 NM_198175,NM_000269,AC005839,CH471109,X75598,AF487339,AK291105,AK309160,AL360166,AL360191,BC000293,BC018994,BE727815,BF965472,BG531372,BG715560,BG757842,BI666785,BM479520,BU600979,CR542104,CR542115,CR621859,CR626177,X17620,X73066,NG_021169 NP_937818,NP_000260,EAW94568,CAA53270,AAO85436,BAF83794,AAH00293,AAH18994,CAG46901,CAG46912,CAA35621,CAA51527,P15531 Hs.463456 AWD|GAAD|NB|NBS|NDKA|NDPK-A|NDPKA|NM23|NM23-H1 NDK A|NDP kinase A|expressed in non-metastatic cells 1|granzyme A-activated DNase|metastasis inhibition factor nm23|nucleoside diphosphate kinase A|tumor metastatic process-associated protein protein-coding 1642401 NME1-NME2 NME1-NME2 readthrough transcript The NME1-NME2 mRNA is a naturally occurring co-transcribed product of the neighboring NME1 and NME2 genes. The significance of this co-transcribed mRNA and the function of its predicted protein product have not yet been determined. Alternative splicing of this gene results in different transcript variants encoding distinct isoforms, but the full-length nature of each variant has not been defined. [provided by RefSeq] 16442775,12477932,11919189,16862176,17314099,17353931,18029348,1851158,20101217,8392752,20877624,11181995,20967262 654364 NM_001018136,AC005839,BG388883,BI603164,NR_037149,CH471109 NP_001018146,EAW94565,EAW94566,EAW94563,Q32Q12 Hs.463456 FLJ93990|NM23-LV|NME2|NMELV C-myc purine-binding transcription factor PUF|NDK B|NDP kinase B|NM23-LV|NME1-NME2 protein|NME1-NME2 readthrough transcript|OTTHUMP00000174726|nm23-H2|nucleoside diphosphate kinase B protein-coding 1346564 NME2 non-metastatic cells 2, protein (NM23B) expressed in Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. Co-transcription of this gene and the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) which encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq] 2299058,2299062,2299072,2299076,2299071,2299073,2299060,2299066,1580863 11919189,17314099,17353931,8392752,16862176,19022560,18535780,18496563,17964137,17532299,17272673,15952740,15489334,15249197,14976202,14499630,12486123,12486122,12477932,12200143,12009894,12007505,11960382,11872741,11082283,11042679,9925751,9480811,8858107,8747457,8645210,8529641,8406509,8381224,8270257,8245015,7768941,7685630,7658474,7488060,2509941,1988104,1851158,16169070,17163575,19381785,19619546,19638341,19852809,15146197,18029348,8889548,20864512,20877624 2299058,2299062,2299072,2299076,2299071,2299073,2299060,2299066 4831 NM_002512,NM_001018139,NM_001018138,AC005839,CH471109,U29200,BC002476,BC095458,BE501156,BF034471,BF058708,BM556410,BT007045,CK023920,CR541718,CR620528,L16785,M36981,X58965,NM_001018137,CA307456,CB242387,CN267160,CR608209,DB454073,NM_001198682 NP_001018147,NP_002503,NP_001018149,NP_001018148,EAW94564,EAW94567,AAA86745,AAH02476,AAH95458,AAP35694,CAG46519,AAA60228,AAA36369,CAB37870,P22392,Q6FHN3,NP_001185611 Hs.463456 MGC111212|MGC2212|NDKB|NDPK-B|NDPKB|NM23-H2|NM23B|PUF|puf C-myc purine-binding transcription factor PUF|NDK B|NDP kinase B|OTTHUMP00000174727|OTTHUMP00000174728|OTTHUMP00000174774|OTTHUMP00000174775|OTTHUMP00000174776|c-myc purine-binding transcription factor PUF|c-myc transcription factor|non-metastatic cells 2, protein (NM23) expressed in|nucleoside diphosphate kinase B protein-coding 1354297 NME2P1 non-metastatic cells 2, protein (NM23B) expressed in, pseudogene 1 1580863 8270257,7488060 283458 NR_001577,AC004263,U85976,NG_027861,CB993665 AAC05177 Hs.577804 pseudo 733554 NME3 non-metastatic cells 3, protein expressed in 1300048,1580863 11277919,7638209,17900511,16713569,16537434,16189514,15489334,12477932,11157797,11042679,9067290,16169070,20877624,19852809 4832 NM_002513,AC012180,AE006639,AL031718,CH471112,AK308663,BC000250,BG911570,CR605551,U29656 NP_002504,AAK61291,CAB72319,EAW85629,AAH00250,AAA85097,Q13232,Q9NUF9,ABM83441,ABW03498 Hs.514065 DR-nm23|KIAA0516|NDPK-C|NDPKC|NM23-H3|NM23H3|c371H6.2 NDK 3|NDP kinase 3|NDP kinase C|nucleoside diphosphate kinase 3|nucleoside diphosphate kinase C protein-coding 1318408 NME4 non-metastatic cells 4, protein expressed in The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM] 1580863 10799505,9099850,18604718,16189514,15616553,15489334,14702039,12477932,11831846,11157797,20877624,19852809 4833 CR597313,CR613066,CR621504,Y07604,NM_005009,AE006463,Z97634,AF086133,AK094439,BC004880,BC017067,BT019438,CR592051,CR595773,CH471112 AAK61230,CAA68877,O00746,Q4TT34,NP_005000,EAW85817,EAW85818,EAW85819,EAW85820,CAC37288,CAI95599,CAM26405,CAM26406,CAM26407,AAH04880,AAH17067,AAV38245 Hs.9235 NDPK-D|NM23H4|nm23-H4 NDK|NDP kinase D|NDP kinase, mitochondrial|NDPKD|OTTHUMP00000194917|OTTHUMP00000194919|OTTHUMP00000206530|nucleoside diphosphate kinase D|nucleoside diphosphate kinase, mitochondrial protein-coding 1343010 NME5 non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) 1580863 15489334,14499630,12477932,16189514,9742940,8889548,19447967,19852809 8382 NM_003551,AC113382,CH471062,AF067724,AK312181,BC026182,BM979998,BX490554,U90450,Y14992 NP_003542,EAW62163,EAW62164,AAC64358,BAG35114,AAH26182,AAC69440,CAA75226,P56597 Hs.727714 NM23-H5|NM23H5|RSPH23 IPIA-beta|NDK-H 5|NDP kinase homolog 5|inhibitor of p53-induced apoptosis-beta|nucleoside diphosphate kinase homolog 5|radial spoke 23 homolog|testis-specific nm23 homolog protein-coding 1604057 NME6 non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the NM23 gene family (see MIM 156490).[supplied by OMIM] 15489334,12477932,10618642,10453732,9373149,8125298,19852809,20877624 10201 NM_005793,AC105267,CH471055,AF051941,AK222555,AK294809,AK297364,AK308970,BC001808,BC012828,U90449 NP_005784,EAW64861,AAC78463,BAD96275,BAG57928,BAG59811,AAH01808,AAH12828,AAC69439,O75414,ABM83209,ABM86409 Hs.465558 IPIA-ALPHA|NDK 6|NM23-H6 NDP kinase 6|OTTHUMP00000210736|OTTHUMP00000210737|OTTHUMP00000210738|OTTHUMP00000210741|OTTHUMP00000210742|OTTHUMP00000210743|OTTHUMP00000210744|OTTHUMP00000210745|inhibitor of p53-induced apoptosis-alpha|nucleoside diphosphate kinase 6 protein-coding 733959 NME7 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) 1580863 19240061,19064610,17363702,16710414,16189514,15489334,14702039,12477932,11768308,19536175,19852809,20379614 29922 AL031726,AL356852,CH471067,Z99758,AB209049,AF153191,AK094513,AK290701,AK301917,BC006983,CD107958,CR599535,CR605539,NM_013330,NM_197972 CAI18887,CAI19238,EAW90834,EAW90835,EAW90836,CAI22851,BAD92286,AAD34622,BAG52881,BAF83390,BAG63340,AAH06983,Q59GR0,Q9Y5B8,NP_037462,NP_932076 Hs.706952 FLJ37194|MN23H7|nm23-H7 NDK 7|NDP kinase 7|nucleoside diphosphate kinase 7|nucleoside-diphosphate kinase 7 protein-coding 1323327 NMI N-myc (and STAT) interactor NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq] 1580863 16712791,16919237,20237496,10597290,10779520,9989503,18029348,19358268,19240718,18950845,18794094,17565738,17406968,17197158,16214168,16189514,15996661,15815621,15489334,15231747,14702039,12477932,12019454,11916966,11911807,10950963,10574616,9781816,8668343 9111 NM_004688,AC009311,CH471058,AB451305,AB451436,AK124323,AK291548,AK298754,BC001268,BC021987,CB151555,CR604696,EF036506,U32849 NP_004679,AAY15066,EAX11513,BAG70119,BAG70250,BAF84237,BAG60896,AAH01268,AAH21987,ABO65092,AAC12949,Q13287,Q8WTW2 Hs.54483 N-myc interactor|N-myc-interactor protein-coding 1322215 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 The coenzyme NAD and its derivatives are involved in hundreds of metabolic redox reactions and are utilized in protein ADP-ribosylation, histone deacetylation, and in some Ca(2+) signaling pathways. NMNAT (EC 2.7.7.1) is a central enzyme in NAD biosynthesis, catalyzing the condensation of nicotinamide mononucleotide (NMN) or nicotinic acid mononucleotide (NaMN) with the AMP moiety of ATP to form NAD or NaAD (Zhang et al., 2003 [PubMed 12574164]).[supplied by OMIM] 1580863 11027696,16118205,11248244,19403820,17402747,17360427,17081983,15489334,15342556,14702039,14516279,12574164,12477932,12359228,11959140,11891043,11788603,11752792,11751893,9373149,8125298,20388704,19913121,20457531,20628086,14704851,20379614,20926655 64802 AF459823,AL357140,AL603962,CH471130,CS300603,AF088049,AF312734,AF314163,AF459819,AK026065,AK222920,AK315640,BC014943,NM_022787,BG751629,BP339298,CS463828 NP_073624,AAL76935,CAI16889,CAI16813,EAW71635,EAW71636,CAK32267,AAG33629,AAG33632,AAL76934,BAB15345,BAD96640,BAG38007,AAH14943,Q53GL1,Q9HAN9,CAM12697 Hs.633762 NMNAT|PNAT1 NMN adenylyltransferase 1|NaMN adenylyltransferase 1|OTTHUMP00000001732|nicotinamide mononucleotide adenylyltransferase 1|nicotinate-nucleotide adenylyltransferase 1|pyridine nucleotide adenylyltransferase 1 protein-coding 1316464 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17402747,16710414,16118205,15489334,14516279,12477932,12359228,11318611,9455484,17207965,18029348,20962850,20857515,20388704,20943658,14704851,20379614 23057 NM_015039,NM_170706,AL354953,AL356981,AL449223,CH471067,AB007948,AF086038,AF288395,AK291390,AK309461,BC016726,BC020998,BC037251,CS463830 NP_055854,NP_733820,CAH70979,CAH70982,CAI15467,CAI15468,CAI16624,EAW91148,EAW91149,EAW91150,EAW91151,BAA32324,AAG60615,BAF84079,AAH20998,Q9BZQ4,ADQ31842,CAM12698 Hs.497123 C1orf15|KIAA0479|MGC2756|PNAT2 NMN adenylyltransferase 2|NaMN adenylyltransferase 2|nicotinamide mononucleotide adenylyltransferase 2|nicotinate-nucleotide adenylyltransferase 2|pyridine nucleotide adenylyltransferase 2 protein-coding 1319314 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 The coenzyme NAD and its derivatives are involved in hundreds of metabolic redox reactions and are utilized in protein ADP-ribosylation, histone deacetylation, and in some Ca(2+) signaling pathways. NMNAT (EC 2.7.7.1) is a central enzyme in NAD biosynthesis, catalyzing the condensation of nicotinamide mononucleotide (NMN) or nicotinic acid mononucleotide (NaMN) with the AMP moiety of ATP to form NAD or NaAD (Zhang et al., 2003 [PubMed 12574164]).[supplied by OMIM] 1580863 17402747,16118205,15489334,12574164,12477932,11788603,20388704,14704851,20457531,18344983,19448972,20117162,20954240 349565 AC046134,AC110716,CH471052,AF345564,AK123208,AK127477,NM_178177,BC034374,BC036218,BX649063,AA894638,DB454216,NM_001200047 NP_835471,EAW79022,EAW79023,EAW79024,EAW79025,EAW79026,EAW79027,EAW79028,EAW79029,EAW79030,EAW79031,EAW79032,EAW79033,AAK52726,BAG53878,BAG54510,AAH34374,AAH36218,Q49AL4,Q96T66,ABM81730,ABM84885,NP_001186976 Hs.208673 FKSG76|PNAT-3|PNAT3 NMN adenylyltransferase 3|NaMN adenylyltransferase 3|nicotinamide mononucleotide adenylyltransferase 3|nicotinate-nucleotide adenylyltransferase 3|pyridine nucleotide adenylyltransferase 3 protein-coding 1349817 NMNATP nicotinamide nucleotide adenylyltransferase pseudogene 326607 NG_002596,AC007262 pseudo 1603207 NMRAL1 NmrA-like family domain containing 1 19254724,19027726,18263583,17496144,17100653,15616553,15489334,12477932,19843583,17207965,19433587 57407 NM_020677,AC007606,AC012676,CH471112,AF225419,AK098784,BC002927,BC007364,CR606906,CR608452,CR622057 NP_065728,EAW85301,EAW85302,AAG09721,AAH02927,AAH07364,Q9HBL8,ADQ31843 Hs.288969 FLJ25918|HSCARG|SDR48A1 nmrA-like family domain-containing protein 1|short chain dehydrogenase/reductase family 48A, member 1 protein-coding 1604755 NMS neuromedin S 18987052,17870195,15635449,19519756,20468064,10899166,16754659 129521 NM_001011717,AC068538,AB164464 Q5H8A3,AAI48627,AAI53191,NP_001011717,BAD89024 Hs.567676 neuromedin-S protein-coding 1352076 NMT1 N-myristoyltransferase 1 Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM] 1580863 9506952,11099414,18248763,18089753,18021392,17549352,17081983,16964243,16123142,15489334,15302935,15156568,12767222,12477932,12414990,12244217,12220649,11594778,11423543,11302743,10734119,10718634,10625670,10196310,10074105,9971769,9677304,9353336,9299393,9261380,9110174,8970978,8619474,8576268,8360179,8139035,7527558,7521919,7512951,3917576,18029348,16216583,16183191,15280532,14707265,14699046,15613341,16475823,11463741,10339411,2788277,2737204,2692561,2405382,2194551,2153964,1570339,1530946,16306631,16530191,20379614 4836 NM_021079,AC002117,AC116493,CH471178,AF020500,AF043324,AK291936,BC006538,BC006569,BC007258,BC008312,BC008579,BC109226,CR604827,CR607720,CR615980,CR616397,CR626529,M86707,U79285,Y17208,Y17209,AK303517 NP_066565,EAW51553,EAW51554,EAW51555,EAW51556,EAW51557,AAB95316,AAC09294,BAF84625,AAH06538,AAH06569,AAH07258,AAH08312,AAH08579,AAI09227,CAA76684,CAA76685,CAA76686,P30419,Q96HI4,Q9Y465,BAH13980 Hs.532790 NMT NMT 1|alternative, short form NMT-S|glycylpeptide N-tetradecanoyltransferase 1|long form, NMT-L|myristoyl-CoA:protein N-myristoyltransferase 1|peptide N-myristoyltransferase 1|type I N-myristoyltransferase protein-coding 1349505 NMT2 N-myristoyltransferase 2 N-myristoyltransferase (NMT) catalyzes the reaction of N-terminal myristoylation of many signaling proteins. It transfers myristic acid from myristoyl coenzyme A to the amino group of a protein's N-terminal glycine residue. Biochemical evidence indicates the presence of several distinct NMTs, varying in apparent molecular weight and /or subcellular distribution. The predicted 498-amino acid of human NMT2 protein shares 77% and 96% sequence identity with human NMT1 and mouse Nmt2 comprise two distinct families of N-myristoyltransferases. [provided by RefSeq] 1580863 19913121,20628086,12477932,12244217,11731439,11302743,10196310,10074105,9971769,9299393,9261380,8970978,8576268,12767222,8139035,7521919,2788277,2737204,2692561,2405382,2194551,16306631,16216583,16183191,15280532,14707265,14699046,9506952,18029348,18089753,17568424,16530191,16364039,16123142,15489334,15164054,14702039,20379614 9397 NM_004808,AL590365,CH471072,AF043325,AF086423,AK094904,AK123732,AK295277,AK302101,AK315085,BC005232,BC006376,BT007024,CR608984,EF445001 NP_004799,CAH73971,CAH73972,CAH73973,EAW86238,EAW86239,AAC09295,BAG52951,BAG58261,BAG63483,BAG37550,AAH05232,AAH06376,AAP35670,O60551,Q9BS83,ABM81593,ABM84774,ACA06028,ACA06029 Hs.60339 NMT 2|OTTHUMP00000019189|OTTHUMP00000019190|glycylpeptide N-tetradecanoyltransferase 2|myristoyl-CoA:protein N-myristoyltransferase 2|peptide N-myristoyltransferase 2|type II N-myristoyltransferase protein-coding 68564 NMU neuromedin U 1642093,1642094,632965,1642095,1580863 10811630,7619205,19118941,17018595,16984985,16878152,15489334,15331768,15187020,14623274,12477932,12023529,10999960,10899166,10894543,10887190,10783389,15635449,19519756,20379614 1642093,1642094,632965,1642095 10874 NM_006681,AC024243,CH471057,AJ510133,AJ510134,AJ510135,AM279463,BC012908,BI603117,X76029,FB660528 NP_006672,EAX05470,EAX05471,CAD52852,CAD52853,CAD52854,CAK50583,AAH12908,CAA53619,P48645,Q1EHW1,Q86WB4,Q86WB5,Q86WB6,ABM82221,ABM85405,CAS01829 Hs.418367 OTTHUMP00000218696|OTTHUMP00000218697|OTTHUMP00000218881|neuromedin|neuromedin-U protein-coding 1348049 NMUR1 neuromedin U receptor 1 10899166,9782091,15815621,15635449,15489334,15342556,12477932,10811630,10783389,10894543,18577758 10316 NM_006056,AC017104,AF044600,AF044601,CH471063,AF272362,BC036543,BC051914,BP198644,AK300222 NP_006047,AAY24249,AAC02680,EAW70966,AAG24793,AAH36543,AAH51914,Q9HB89,BAG61990 Hs.471619 (FM-3)|FM-3|FM3|GPC-R|GPR66|NMU1R G protein-coupled receptor 66|G-protein coupled receptor 66|G-protein coupled receptor FM-3|NMU-R1|neuromedin-U receptor 1 protein-coding 1343070 NMUR2 neuromedin U receptor 2 This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq] 632965 10894543,10899166,10887190,16781063,15525579,15489334,12477932,11010960,8940772,15635449,20395239,18577758 632965 56923 NM_020167,AC008571,CH471062,AB041228,AF242874,AF272363,AF292402,AI023570,BC016938,BC067776 NP_064552,EAW61653,BAB13721,AAF82755,AAG24794,AAG03064,AAH16938,AAH67776,Q9GZQ4,ABM82703,ABM85887 Hs.283093 FM-4|FM4|NMU-R2|NMU2R|TGR-1|TGR1 G-protein coupled receptor FM-4|G-protein coupled receptor TGR-1|growth hormone secretagogue receptor family, member 4|neuromedin-U receptor 2 protein-coding 730841 NNAT neuronatin The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of the BLCAP gene, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele, while BLCAP is not imprinted. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 8813377,19218280,18701710,17805055,15489334,12477932,11960906,11780052,11543638,11476579,9356927,8660979,12775420,19851307 4826 NM_005386,NM_181689,NG_009263,AL109614,CH471077,U31767,AB002392,AK312069,BC001768,BE255132,BT019426,CR593008,CR597280,CR598063,CR599948,CR601930,CR611594,CR615297,CR620236,CR622140,CR624181,U25033,U25034,AI879211,BG472075 NP_005377,NP_859017,CAC00476,CAC00477,EAW76057,EAW76058,EAW76059,EAW76060,EAW76061,AAC50626,AAC50627,BAA25016,BAG35005,AAH01768,AAV38233,AAA93224,AAA93225,Q16517 Hs.504703 MGC1439|Peg5 neuronatin protein-coding 1320034 NNMT nicotinamide N-methyltransferase N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq] 1580863,2299120,1359084 8182091,19343046,19336370,19242722,19216803,19161160,19020309,18996527,18724390,18635682,18553462,18441319,18427977,17922140,17903297,17434578,17412799,16676400,16166432,15849667,15728403,15489334,15486044,12477932,12216074,11853016,11271497,10471062,9804963,8845860,8575745,1533573,20634891,19619240,19812220,19924637,20104648,20458436 2299120,1359084 4837 AP002518,CH471065,U20970,U20971,AA402535,AK026845,BC000234,BI255889,CR541907,CR599407,CR600284,CR612730,U08021,NM_006169,CS463820,EF445002 ABM87087,NP_006160,EAW67243,EAW67244,AAA93158,AAH00234,CAG46705,AAA19904,P40261,Q6FH49,ABM83767,ACA06031,CAM12693 Hs.503911 nicotinamide N-methyltransferase protein-coding 1345000 NNO1 nanophthalmos 1 9792868 23691 1351355 NNT nicotinamide nucleotide transhydrogenase This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq] 1580863 11256614,17643375,10673423,9524818,16381901,16344560,15489336,15489334,12788487,12592411,12477932,12223207,11230166,11181995,11076863,10739929,9271681,8951041,8616157,20388492,20877624 23530 NM_012343,NM_182977,AC010435,CH471119,AK297558,AK299622,AL831822,AW771969,BC032370,BC064402,BC110543,BC110544,BU429380,CR598327,DA521839,U40490,Z50101 NP_036475,NP_892022,EAW56073,EAW56074,BAG59951,BAG61550,CAD38536,AAH32370,AAI10544,AAI10545,AAC51914,CAA90428,Q13423,Q2TB59,Q8N5H5,CAL37542,CAL38491 Hs.482043 MGC126502|MGC126503 NAD(P) transhydrogenase, mitochondrial|OTTHUMP00000221608|pyridine nucleotide transhydrogenase protein-coding 1603053 NOB1 NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 12477932,1791827,18482256,15231747,17081983,16172919,15489334,14702039,12588997,19706509 28987 NM_014062,AC092115,CH471092,AB026125,AF190161,AK001028,AK314307,AY487344,BC000050,BC064630,CR595115,CR595764,CR598380,CR599606,CR600388,CR603829,CR613231,CR614204,CR619268 NP_054781,EAW83285,EAW83286,BAA86961,AAQ13705,BAA91473,BAG36959,AAR85357,AAH00050,AAH64630,Q9ULX3 Hs.271695 ART-4|MST158|MSTP158|NOB1P|PSMD8BP1 PSMD8 binding protein 1|RNA-binding protein NOB1|adenocarcinoma antigen recognized by T lymphocytes 4|nin one binding protein|phosphorylation regulatory protein HP-10|protein ART-4 protein-coding 1604996 NOBOX NOBOX oogenesis homeobox NOBOX is a homeobox gene that is preferentially expressed in oocytes. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes (Huntriss et al., 2006 [PubMed 16597639]).[supplied by OMIM] 18675947,18689850,19610175,20593028,18930203,17701902,16597639,15950662,15326356,12853948,11804785,11181995,8855241 135935 NM_001080413,AACC02000041,AC004534,CH471146 NP_001073882,EAL24414,AAC12957,EAW80093,EAW80094,O60393,AAI52835 Hs.558628 OG-2|OG2|OG2X|Og2x|POF5|TCAG_12042 OTTHUMP00000212588|homeobox protein NOBOX|newborn ovary homeobox-encoding protein-coding 1606804 NOC2L nucleolar complex associated 2 homolog (S. cerevisiae) Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM] 17353931,17081983,16713569,16710414,16565220,16381901,16344560,16322561,16189514,16083285,15489336,15489334,14702039,12477932,12429849,11790298,11256614,11076863,10737800,9373149,8125298,10637318,11230166 26155 NM_015658,AL645608,CH471183,AK024284,AK092491,AK225239,AK315080,AL050019,AW749585,BC003555,BC009786,BX645732,DA002961,AK022756 NP_056473,CAI15568,EAW56304,EAW56305,EAW56306,BAG51285,BAB14230,BAC03905,CAB43240,AAH03555,Q8NAK7,Q9H9J5,Q9Y3T9,CAL38718 Hs.405987 DKFZp564C186|FLJ35172|NET15|NET7|NIR NOC2-like protein|novel INHAT (inhibitor of histone acetyltransferase) repressor|nucleolar complex protein 2 homolog|protein NOC2 homolog protein-coding 1316739 NOC3L nucleolar complex associated 3 homolog (S. cerevisiae) 737633 20729852,16565220,15564382,15164054,14702039,12477932,12429849,15489334,16385451,19615732 737633 64318 NM_022451,AL355341,CH471066,AB077992,AK022882,AK026953,AK091246,AK292520,AK302028,BC030999,BC049850 NP_071896,CAD13194,EAW50041,BAB84194,BAB14291,BAB15599,BAF85209,BAG63426,AAH49850,Q8WTT2 Hs.74899 AD24|C10orf117|FAD24|FLJ12820 NOC3 protein homolog|NOC3-like protein|chromosome 10 open reading frame 117|factor for adipocyte differentiation 24|nucleolar complex protein 3 homolog|nucleolar complex-associated protein 3-like protein protein-coding 1604300 NOC4L nucleolar complex associated 4 homolog (S. cerevisiae) 15590835,16189514,15489334,14702039,12477932,12446671,12429849,16169070 79050 NM_024078,AC138466,CH471054,BC001191,BC007893,BC071958 NP_076983,EAW98544,EAW98545,AAH01191,AAH07893,AAH71958,Q9BVI4,ABM83444,ABM86656 Hs.558536 MGC3162|NET49|NOC4 NOC4 protein homolog|NOC4-like protein|nucleolar complex protein 4 homolog|nucleolar complex-associated protein 4-like protein protein-coding 1344653 NOD1 nucleotide-binding oligomerization domain containing 1 1580863 16493424,16464805,16446438,16260731,16172124,16115863,16083881,15990792,15790594,15718249,15489334,14977954,14702039,12871942,12853948,12813035,12791997,12775719,12690205,12477932,12459189,11113115,11058605,10880512,20039881,21048031,19327158,19273470,19264973,19247692,19122645,19074885,19050632,19043560,18574154,18573991,18536738,18521924,18426885,18397186,18186648,17970764,17964870,17907287,17620097,17613538,17595233,17521327,17452051,17403538,17322292,17309748,17285593,17156193,17100974,17054981,17030188,17012967,17005562,16935475,16918516,16893397,16741608,10329646,15967716,15657077,15653568,12761501,19401779,10224040,15107016,19913121,20485444,20519512,20595247,20628086,20646321,20818820,20470879,19120480,19167431,19260860,19406482,19423540,19538217,19570976,19587002,19660916,19667203,19723304,19818630,19843337,19882212,19898471,20002790,20007577,20124104,20389019,20395963,20403997,20406964,20438785,20453000,20713621,15276183,20300534 10392 NM_006092,AACC02000087,AC005154,AC006027,AF149774,CH471073,AA845215,AF113925,AF126484,AK023969,AK300367,AY128682,AY128683,AY128684,AY128685,AY128686,AY187249,BC020114,BC040339,CV569884,NG_013025 NP_006083,EAL24453,AAS46897,AAD43922,EAW93944,EAW93945,EAW93946,EAW93947,EAW93948,EAW93949,AAD28350,AAD29125,BAG51242,BAG62105,AAM98064,AAM98065,AAM98066,AAM98067,AAM98068,AAH40339,Q7Z2K1,Q9Y239 Hs.405153 CARD4|CLR7.1|NLRC1 NLR family, CARD domain containing 1|caspase recruitment domain family, member 4|caspase recruitment domain-containing protein 4|nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1|nucleotide-binding oligomerization domain-containing protein 1 protein-coding 1314945 NOD2 nucleotide-binding oligomerization domain containing 2 This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. [provided by RefSeq] 1643119,1580863,1600778,1600781 19913121,20524760,20549515,20595247,20601676,20622911,20628086,20632099,20646002,20646321,20673868,20676658,20713205,20854823,20385562,21123652,20525885,11834373,11752413,11528384,11472070,11425413,11385576,11318544,10439963,10053016,9924607,9797359,9541106,8894707,8587604,7809109,17351900,17337463,17333217,17319929,17303577,17301648,17285593,17278126,17269998,17258734,17206688,17206636,17206080,17200669,17174426,17171451,17160430,17157607,17156193,17156146,17142621,17131470,17119385,17113749,17101573,17100976,17100974,17096091,17068223,17057186,17030188,17020469,17018387,17012967,17009307,17006998,17005562,16977346,16965521,16952484,16949315,16933467,16920047,16907704,16897777,16840031,16825909,16819374,16804670,16804398,16773683,16771961,16741608,16716969,16670524,16670523,16669960,16642031,16641610,16614992,16611251,16534418,17690884,17684544,17666747,17661913,17660460,17652449,17620097,17613538,17600378,17595233,17570063,17565648,17563761,17558906,17558494,17554300,17548659,17538984,17509030,17498224,17489054,17486745,17484864,17484863,17476680,17460484,17452051,17451203,17447842,17435756,17417801,17404888,17403538,17393391,17389035,17389014,17379562,17356065,17355968,11087742,15753091,15998797,15075345,16260731,15653568,17187069,11385577,15107016,17919942,15967716,16714539,17337451,19638967,19590455,19527514,19482182,19479837,19479836,19434699,19426395,19422935,19349988,19337309,19319132,19305026,19299732,19275920,19273470,19262523,16522788,16519819,16510569,16494592,16494109,16493449,16493424,16492792,16489646,16485124,16461743,16454837,16446977,16441470,16437728,16437636,16436969,16424393,16416181,16402184,16397396,16393227,16389181,16385250,16344054,16344053,16319062,16315780,16306764,16279904,16278823,16267612,16266221,16257953,16255050,16244543,16239841,16239840,16230083,16203728,16198136,16179784,16174099,16167972,16161956,16148063,16134731,16134725,16133971,16126943,16115863,16080653,16010583,16009674,16008671,16002353,16000642,15990626,15984988,15973118,15973116,15967635,15930978,15927452,15843082,15842589,15840263,15812565,15807862,15803022,15800781,15795594,15785318,15778542,15770725,15712650,15685536,15667501,15666202,15655821,15654786,15643611,15638227,15637755,15626888,15626887,15578724,15571588,15571586,15551253,15539413,15539411,15527324,15520108,15516360,15515785,15492242,15489579,15479689,15472511,15468360,15459013,15377357,15367194,15320482,15308523,15289769,19258923,19253375,19247692,19244164,19240061,19235913,19219079,19200604,19189651,19184350,19184348,19183163,19174806,19169908,19139201,19120480,19116920,19112191,19103559,19103524,19098858,19079230,19074885,19058231,19050632,19019335,18985712,18976442,18972554,18942754,18942751,18938111,18855982,18824555,18819462,18818748,18804983,18787464,18758464,18758419,18756601,18715515,18698678,18680223,18676680,18670786,18647548,18640012,18633131,18619921,18617779,18594982,18587394,18576390,18574154,18573991,18563169,18541930,18521924,18521914,18507017,18489434,18466472,18438406,18433468,18419343,18413660,18384487,18383179,18382655,18371140,18371139,18367950,18341489,18340358,18317454,18305068,18271063,18256385,18253730,18248772,18243161,18240302,18227809,18219096,18213697,18200510,18200509,18184136,18182678,18166373,18162085,18158963,18157816,18096043,18092345,18092344,18090989,18088053,18069758,18052659,18047543,18028374,18022871,18022867,17980027,17978873,17976376,17968944,17964870,17964196,17941079,17911997,17907287,17894849,17892524,17877509,17876878,17852840,17804789,17786191,17763471,17725592,17724347,17719742,17705850,17703412,15279649,15214053,15202784,15194649,15190267,15180737,15168811,15145460,15142196,15140210,15107849,15095853,15090455,15056084,15052696,15046222,15046221,15044951,15024686,15016407,15008984,15002819,14996717,14971813,14750643,14747834,14743885,14690304,14644139,14638352,14627676,14597055,14555911,14522785,14516815,14508222,13680285,12940436,12930309,12923865,12879366,12876263,12871942,12851870,12823148,12810925,12704363,12673278,12671897,12671896,12650796,12649405,12631669,12631668,12631666,12626759,12618963,12617879,12595906,12595627,12577202,12563685,12556233,12532667,12529700,12527755,12514169,12512064,12512038,12508397,12492195,12474146,12459523,12454871,12415614,12397216,12360101,12210321,12202985,12198692,12115249,12115195,12105838,12105836,12020527,12019468,12019209,11976792,11938034,11910337,11910336,11890351,11875755,11837220,20298285,20565245,19170196,19266573,19397946,19406482,19423540,19535145,19570052,19570976,19572373,19579027,19579029,19625176,19641059,19659808,19664207,19667203,19679065,19679608,19692168,19701189,19701969,19713276,19721713,19748964,19759286,19787357,19809335,19822951,19826411,19830732,19843337,19853919,19888426,19896081,19898471,19907652,19912254,19948723,19966812,20002790,20018961,20024904,20027650,20032092,20047977,20066736,20079790,20082483,20087966,20110711,20124104,20155851,20177049,20182871,20230816,20232407,20332463,20346235,20350193,20362271,20371648,20373538,20379614,20380008,20387682,20403997,20406964,20412372,20428899,20438785,20441518,20452482,20453000,20483763,20485703,20503287,20537165,20541026,19693669,19760754,20140262,20637199,20800603,20839241,20850627,20865702,20875485,20886065,20959815,20962850,21039068,21040192,21080465,15276183,21102463,20570966,20940596,20436512,20698950,19728064,20583427 1643119,1600778,1600781 64127 NM_022162,NG_007508,AC007608,AC007728,AF385085,AF385087,AF385088,AF385089,AF385090,AJ303140,AX259774,AX259776,CH471092,AF178930,AK298099,AY187233,AY187234,AY187235,AY187236,AY187237,AY187238,AY187239,AY187240,AY187241,AY187242,AY187243,AY187244,AY187245,AY187246,AY423901,DQ868973,HQ204571 NP_071445,AAK70863,AAK70865,AAK70866,AAK70867,AAK70868,CAC42117,CAD10212,CAD10248,EAW82767,AAG33677,BAG60384,AAQ93806,ABJ16061,Q6TDC3,Q7Z595,Q7Z596,Q7Z597,Q9HC29,AAI52738,AAI56572,ADN95581 Hs.592072 ACUG|BLAU|CARD15|CD|CLR16.3|IBD1|NLRC2|NOD2B|PSORAS1 NLR family, CARD domain containing 2|NOD-like receptor C2|caspase recruitment domain family, member 15|caspase recruitment domain protein 15|caspase recruitment domain-containing protein 15|inflammatory bowel disease protein 1|nucleotide-binding oligomerization domain 2|nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2|nucleotide-binding oligomerization domain-containing protein 2 protein-coding 1314354 NODAL nodal homolog (mouse) The protein encoded by this gene is a member of the TGF-beta superfamily. Studies of the mouse counterpart suggested that this gene may be essential for mesoderm formation and subsequent organization of axial structures in early embryonic development. [provided by RefSeq] 1580863 20482672,12052855,19553149,19279133,19064609,18596037,18538293,18234825,18089557,18022151,17925387,17373879,16179608,15982639,15501227,15489334,15475956,15308665,15257293,15150278,12606401,12477932,20629020,20383200,20495543,21159651,9354794,8429908,16385451,19386982,19874624,19913121,20628086,20734064,20819778 4838 NM_018055,NG_012448,AB067632,AC022532,CH471083,BC033585,BC039861,BC104976,BC112025 NP_060525,BAB62524,EAW54403,AAH33585,AAI04977,AAI12026,Q96S42,Q9NW52 Hs.370414 MGC138230 nodal homolog protein-coding 735776 NOG noggin The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq] 729002,1600234,1580863 11545688,10780858,10657699,10087923,9634519,9603738,9585504,7557985,15064755,19400542,19597895,19692649,19700758,20023658,20048150,8582276,8752214,11562478,7666191,10080184,16151340,17889703,17029022,19453261,19167531,19058174,19023570,18931653,18560367,18537141,18391951,18204269,18019378,17696196,17668388,17218603,17200191,17138967,16532400,16126463,15756420,15621726,15489334,15264296,14999064,12621334,12478285,12477932,12404109,12115893,12089654,11857750,11846737,11706034,11580864,20546612,20645637,20503332,20734064 729002,1600234 9241 NM_005450,NG_011958,AC015724,CH471109,U31202,AK314080,BC034027,CR611456 NP_005441,EAW94528,AAA83259,BAG36778,AAH34027,Q13253 Hs.248201 SYM1|SYNS1 noggin|symphalangism 1 (proximal) protein-coding 1602460 NOL10 nucleolar protein 10 11790298,9875212,9847074,15815621,15489334,14702039,12477932,12429849 79954 NM_024894,AC007314,AC092687,CH471053,AK024000,AK024137,AK290680,AK297169,AK299617,BC005125,BC037841,CR612766,CR614196,DC346574 NP_079170,AAK52071,AAY24068,EAX00953,EAX00954,EAX00955,BAB14765,BAB14836,BAF83369,BAG59662,BAG61545,AAH05125,Q9BSC4 Hs.222494 FLJ13938|FLJ14075|PQBP5 H_NH0074G24.1|nucleolar protein 10|polyglutamine binding protein 5 protein-coding 1603676 NOL11 nucleolar protein 11 15489334,15334068,14702039,12477932,12429849,16169070,18029348 25926 NM_015462,AC006534,CH471099,AK023702,AK025390,AK299483,AL110271,AY598333,BC001726,BC064404,CR590160,CR593930,CR626357 NP_056277,EAW89033,EAW89034,EAW89035,EAW89036,EAW89037,BAB14647,BAH13045,CAB53709,AAT06744,AAH01726,AAH64404,Q9H8H0 Hs.463936 DKFZp586L0724 nucleolar protein 11 protein-coding 1601850 NOL12 nucleolar protein 12 17081983,16565220,15489334,15461802,14702039,12529303,12477932,10591208,16169070,16385458,19913121 79159 NM_024313,CH471095,Z83844,AK057139,AK091928,AK294700,AK316443,AL160132,BC002808,BE241845,CR456463,CR601334 NP_077289,EAW60179,EAW60180,CAB63039,BAG51871,BAG57858,BAH14814,CAB77148,AAH02808,CAG30349,Q9UGY1 Hs.632778 FLJ34609|MGC3731|Nop25|dJ37E16.7 OTTHUMP00000198151|OTTHUMP00000198175|nucleolar protein 12 protein-coding 1343906 NOL2 nucleolar protein 2, 145kDa 4840 1352407 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) 1580863 12734105,10196175,16189514,9560245,18516683,18469522,18245485,18172857,18087040,17142452,16505176,15861191,15848180,15509781,15489334,15383280,12477932,12191471,10644725,17353931,14702039,16344560,19773279,20392691,19913121,20628086 8996 NM_003946,AC074143,AF064598,CH471092,AF043244,AF064599,AF064600,AK294145,AK314899,BC012798,BT020158,CR600491,CR611049,CR616906,AK092623,BQ685512,DA370107,NM_001185057,NM_001185058 NP_003937,AAC18590,AAC18591,EAW83087,EAW83088,EAW83089,AAC34993,AAC18593,AAC18594,BAG57471,BAG37413,AAH12798,AAV38960,O60936,Q5TZN6,ABM83975,ABM87296,NP_001171986,NP_001171987 Hs.513667 ARC|CARD2|FLJ35304|MYC|MYP|NOP|NOP30 muscle-enriched cytoplasmic protein|nucleolar protein 3|nucleolar protein of 30 kDa protein-coding 1321698 NOL4 nucleolar protein 4 1580863 9813152,16730941,16344560,16189514,15489334,14702039,12477932,9853615,8889548,16169070,19846067,20379614 8715 NM_003787,AC010798,AC018972,AC087397,AC104985,CH471088,AB015339,AB017800,AK091463,AK296539,AK297185,AK299850,AK312562,BC000313,BM973283,BT006763,CR456730,CR608782,DA780731,NM_001198548,NM_001198549,NR_036752,AA430033,CA865522,CK822635,DC350556,DC375356,NM_001198546,NM_001198547 NP_003778,EAX01310,EAX01311,EAX01312,EAX01313,EAX01314,EAX01315,EAX01316,BAA34797,BAA34576,BAG52366,BAH12383,BAG59674,BAG61712,AAH00313,AAP35409,CAG33011,O94818,NP_001185475,NP_001185476,NP_001185477,NP_001185478 Hs.514795 CT125|HRIHFB2255|NOLP cancer/testis antigen 125|nucleolar localized protein|nucleolar protein 4|nucleolar-localized protein protein-coding 1317567 NOL6 nucleolar protein family 6 (RNA-associated) The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq] 12429849,11790298,11895476,16565220,15635413,15590835,15489334,15164053,14702039,12477932,19615732 65083 NM_022917,AL356218,CH471071,AF361079,AF361080,AF361081,AK025612,AK026193,AK026258,NM_139235,AK056559,AK293969,BC008298,BC008852,BC020450,BC030139,CB267269,CR623873 NP_631981,NP_075068,CAI13312,CAI13313,CAI13314,CAI13315,EAW58494,EAW58495,EAW58496,EAW58497,EAW58498,EAW58499,AAL74403,AAL74404,AAL74405,BAB15189,BAB15389,BAG51747,BAG57341,AAH08298,AAH08852,AAH30139,Q9H6R4 Hs.493709 FLJ21959|MGC14896|MGC14921|MGC20838|NRAP|UTP22|bA311H10.1 OTTHUMP00000000451|nucleolar RNA-associated protein|nucleolar protein 6 protein-coding 1343047 NOL7 nucleolar protein 7, 27kDa 1580863 16205646,15635413,15489334,14702039,14574404,12477932,12429849,11790298,9875212,18029348,17207965,20206243 51406 NM_016167,AL441883,CH471087,CQ783443,AF172066,AK075301,AL050299,BC023517,BC062683 NP_057251,CAI19839,CAI19840,EAW55339,EAW55340,CAF86645,AAD49745,BAC11534,CAB43398,AAH23517,AAH62683,Q9UMY1,ADQ32116 Hs.306242 C6orf90|MGC71933|PQBP3|RARG-1|dJ223E5.2 nucleolar protein 7|nucleolar protein of 27 kDa|polyglutamine binding protein 3|retinoic acid repressible protein protein-coding 1319952 NOL8 nucleolar protein 8 NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM] 737633 20379614,11073942,14660641,15132771,17081983,16344560,15489334,15164053,14702039,12477932,10737800,9373149,8125298 737633 55035 NM_017948,NR_024020,AL136097,CH471089,AB105104,AB109030,AK000743,AK001049,AK022755,AK024245,AK024786,AK225322,AK297355,AK307408,BC008491,BC013788,BC035041,BC064942,BC146810,BF906161,CR606273,CR627363,DA470513 NP_060418,CAC12712,CAI16204,CAI16205,CAI16206,CAI16207,CAI16208,CAI16209,EAW62814,EAW62815,EAW62816,BAD12268,BAC99315,BAA91356,BAA91479,BAB14229,BAB14857,BAB15003,AAH13788,AAI46811,CAH10464,Q6AI50,Q76FK4,BAG59803 Hs.442199 C9orf34|DKFZp686P12242|FLJ20736|Nop132|bA62C3.3|bA62C3.4 OTTHUMP00000021643|nucleolar protein 8|nucleolar protein Nop132 protein-coding 1605957 NOL9 nucleolar protein 9 19394292,21063389,16710414,15489334,14702039,12477932,12429849,12107410,11790298,8889548 79707 CA432392,AL591866,CH471130,AK026976,AK091284,AK289653,BC009257,BC012439,BC063639,BC073860,BC094836,BC105095,BC110849,BC112278,BC143646,BE383415,BF969522,BI828678,NM_024654,BU728251,BX393201,CA391953 NP_078930,CAI16071,EAW71550,BAB15611,BAF82342,AAH09257,AAH12439,AAH63639,AAH94836,AAI05096,AAI10850,AAI12279,Q5SY16,ADR83383 Hs.59425 FLJ23323|MGC131821|MGC138483|NET6 nucleolar protein 9|polynucleotide 5'-hydroxyl-kinase NOL9 protein-coding 1354376 NOLC1 nucleolar and coiled-body phosphoprotein 1 1580863 17353931,7657714,19541936,19129172,18790693,18253863,17531812,17081983,11571651,15324660,16385451,19381672,8657117,17038328,17001309,16964243,16344560,16341674,15302935,15146197,15144186,14702039,12477932,12446766,12167624,10567578,9016786,8630004,8125298,7584028,7584026,9013635,9553145,9679133,8972203,9373149,17620599 9221 NM_004741,AL500527,CH471066,AI937215,AK056755,AK225101,AK314363,AL520884,AY820769,BC001883,BC006769,BM473772,BM849059,CN312242,CR592002,CR602162,CR608343,CR609020,CR614920,D21262,DA588285,Z34289 NP_004732,CAH72220,EAW49713,EAW49714,EAW49715,EAW49716,EAW49717,EAW49718,BAG51805,BAG36995,AAV67777,AAH01883,AAH06769,BAA04803,CAA84063,Q14978,Q96J17,ABM82788,ABM85977 Hs.523238 KIAA0035|NOPP130|NOPP140|NS5ATP13|P130 140 kDa nucleolar phosphoprotein|HCV NS5A trans-regulated protein 13|HCV NS5A-transactivated protein 13|hepatitis C virus NS5A-transactivated protein 13|nucleolar 130 kDa protein|nucleolar and coiled-body phosphoprotein 1|nucleolar and coiled-body phosphprotein 1|nucleolar phosphoprotein p130|nucleolar protein p130 protein-coding 1345070 NOM1 nucleolar protein with MIF4G domain 1 Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM] 15715967,17965019,15231748,12477932,10329000,17353931,20379614 64434 NM_138400,AC006357,CH236954,CH471149,AK131362,AK308719,AY576779,BC007902,BC011187 NP_612409,EAX04563,AAT39521,AAH07902,Q5C9Z4,AAI67821 Hs.15825 C7orf3|FLJ16401|SGD1 SGD1 homolog|chromosome 7 open reading frame 3|nucleolar MIF4G domain-containing protein 1 protein-coding 1350134 NOMO1 NODAL modulator 1 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq] 1580863 15231747,16713569,15862967,15257293,15231748,12477932,8076819,1310294,16169070,9267806,15616553,10493829 23420 NM_014287,AC136443,U91318,AK125530,BC065535,BI459869,CR602584,X57398 NP_055102,AAC15783,AAH65535,CAA40655,P69849,Q15155 Hs.209113 NOMO3|Nomo|PM5 nodal modulator 1|nodal modulator 3|pM5 protein 3|pM5 protein, telomeric copy protein-coding 1343780 NOMO2 NODAL modulator 2 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. [provided by RefSeq] 17261586,15616553,15489334,15257293,12477932,10493829,9373149,9267806,8125298 283820 NM_173614,NM_001004060,AC126755,AC136618,AK225803,AL512687,AL832855,BC028389,BC041131,BG830626 NP_775885,NP_001004060,CAC21645,CAI46162,AAH28389,AAH41131,Q4G177,Q5JPE7,Q9H049 Hs.460141 Nomo|PM5 nodal modulator 2|pM5 protein 2|pM5 protein, centromeric copy protein-coding 1354081 NOMO3 NODAL modulator 3 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq] 16713569,16344560,15616553,15257293,12477932,10737800,10493829,9267806,8076819,15231747,15231748,15862967,16169070 408050 NM_001004067,AC136624,AI752685,AU132793,AW503115,BC006531,BC013837,BG982746,BI459221,BI596373,BM507095,BQ954152,BU169681,BU526741,BX383108,CD653707,DA392676,DB461977,DR760717,BQ948282 NP_001004067,AAH06531,P69849,Q1LZN2,AAI56527 Hs.460141 Nomo nodal modulator 3|pM5 protein 3|pM5 protein, middle copy protein-coding 1343083 NONO non-POU domain containing, octamer-binding This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq] 1580863 16148043,8371983,9360842,19464723,19165527,18952062,18677406,18655028,18077367,18042045,17965020,17639083,17507659,17452459,17081983,16964243,16344560,16189514,15860628,15635413,15590677,15489334,15057275,14702039,12944487,12810069,12672026,12477932,12417296,12403470,12358429,11897684,11790299,11790298,11710964,11525732,11259580,10858305,9756848,9393982,9341872,8626664,8439294,10821857,16169070,12171929,19144721,19279220,17148452,19217333,19423654,19874820 4841 BC069616,BC069639,CR456761,CR590679,CR594755,CR597886,CR605046,CR609556,CR614502,CR618550,CR619917,CR623522,DA116840,DA779425,L14599,L32558,U02493,U89867,NM_007363,NM_001145409,NM_001145410,AL590762,CH471132,Y11289,AK055406,AK291140,AK297144,AU119361,BC002364,BC003129,BC004113,BC010049,BC012141,BC025280,BC025352,BC028299,NM_001145408 AAH28299,AAH69616,AAH69639,CAG33042,AAC37578,AAA36727,AAA03427,AAC51852,Q15233,Q15559,NP_001138880,NP_031389,NP_001138881,NP_001138882,EAX05298,EAX05299,EAX05300,CAA72157,BAF83829,BAH12508,AAH02364,AAH03129,AAH12141 Hs.533282,Hs.700344 NMT55|NRB54|P54|P54NRB 54 kDa nuclear RNA- and DNA-binding protein|55 kDa nuclear protein|DNA-binding p52/p100 complex, 52 kDa subunit|OTTHUMP00000023508|non-POU domain-containing octamer (ATGCAAAT) binding protein|non-POU domain-containing octamer-binding protein|p54(nrb) protein-coding 1353461 NOP10 NOP10 ribonucleoprotein homolog (yeast) This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq] 1580863 20008900,19615732,9843512,16601202,17507419,15814878,15635413,15489334,15044956,12477932,11074001 55505 NM_018648,NG_011562,AB043103,AC021822,CH471125,AB043104,BC008886,BC063023,BM554889,BQ218536,CR612859,HB964878,HD022288 NP_061118,BAA96107,EAW92303,BAA96133,AAH08886,AAH63023,Q9NPE3,CBG17030,CBV30476 Hs.14317 MGC70651|NOLA3|NOP10P H/ACA ribonucleoprotein complex subunit 3|homolog of yeast Nop10p|nucleolar protein 10|nucleolar protein family A member 3|nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)|snoRNP protein NOP10 protein-coding 1313732 NOP14 NOP14 nucleolar protein homolog (yeast) NOL14 plays a role in the processing of the pre-18S rRNA and small ribosomal subunit assembly (Liu and Thiele, 2001 [PubMed 11694595]).[supplied by OMIM] 17081983,16565220,15489334,12477932,11694595,9734812,9661704 8602 NM_003703,AL390065,CH471131,AB000467,AF040965,AK024755,AK025692,AK292939,BC009760,BC017358,BC026035,BC053635,CR612484,CR614906 NP_003694,EAW82489,EAW82490,EAW82491,EAW82492,EAW82493,BAA19121,AAB97011,BAF85628,AAH09760,AAH26035,AAH53635,P78316,Q96GC8 Hs.627133 C4orf9|NOL14|RES4-25|RES425 NOP14 homolog|OTTHUMP00000216986|chromosome 4 open reading frame 9|nucleolar complex protein 14|nucleolar protein 14|nucleolar protein 14 homolog|probable nucleolar complex protein 14 protein-coding 1605076 NOP16 NOP16 nucleolar protein homolog (yeast) 18373870,15489334,12477932,12429849,11790298,11042152,10810093 51491 AC138956,CH471195,NM_016391,AF151019,AF151875,AF161460,AK300883,AK303281,AY561704,BC019331,BC032424,BC040106,CR457169,CR611555 NP_057475,EAW85083,EAW85084,EAW85085,AAF36105,AAD34112,AAF29075,BAG62525,BAG64360,AAS66977,AAH19331,Q9P0T8,Q9Y3C1,AAH32424,AAH40106,CAG33450,Q05D05,Q6PIM0,ADR82683 Hs.696283 HSPC111|HSPC185 HBV pre-S2 trans-regulated protein 3|OTTHUMP00000223274|OTTHUMP00000223277|nucleolar protein 16|nucleolar protein 16 homolog protein-coding 1312158 NOP2 NOP2 nucleolar protein homolog (yeast) 1580863 12080348,1394192,17081983,16964243,16565220,16344560,15302935,14702039,12477932,12429849,12370829,9654073,9115287,8089149,8088812,3422591,2576976,2372471,2199030 4839 NM_001033714,NM_006170,AC006064,CH471116,AK056208,AK129852,AK307582,AU131299,BC000656,BC065257,BC082985,BC106072,BC128183,BC128184,CR595178,M32110,X55504 NP_001028886,NP_006161,EAW88780,BAG51648,AAH00656,AAH65257,AAH82985,AAI06073,AAI28184,AAI28185,AAA36398,CAA39119,P46087,Q05BA7,Q3KQS4 Hs.534334 MGC117384|MGC149287|MGC149288|NOL1|NOP120|NSUN1|p120 NOL1/NOP2/Sun domain family, member 1|NOP2/Sun domain family, member 1|nucleolar protein 1, 120kDa|nucleolar protein 2 homolog|proliferating-cell nucleolar antigen p120|proliferation-associated nucleolar protein p120|putative ribosomal RNA methyltransferase NOP2 protein-coding 733462 NOP5/NOP58 nucleolar protein NOP5/NOP58 20797632,10925205,10679015,17081983,16565220,15635413,15489334,14702039,12477932,12429849,12417735,12032086,11042152,10648622,10606270,15574333,16687569,17636026,17643375,18029348,19620283 51602 NM_015934,AC064836,CH471063,AF123534,AF161469,AF263608,AK023975,AK300844,AK307396,AL117554,BC001707,BC009306,BC018805,BC032592,CR591676,CR618609 NP_057018,AAY24145,EAW70308,AAD27610,AAF29084,AAF91394,BAG51244,BAG62495,CAB55989,AAH09306,AAH32592,Q9Y2X3,ABM81794,ABW03291 Hs.471104 HSPC120|NOP5|NOP5/NOP58 nucleolar protein 5|nucleolar protein 58|nucleolar protein NOP5/NOP58 protein-coding 1318922 NOP56 NOP56 ribonucleoprotein homolog (yeast) Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq] 1580863 9372940,19331828,17081983,16565220,15635413,15489334,15188402,14702039,12777385,12477932,12429849,12417735,11790298,11780052,10737800,15574333,17636026,17643375,19620283,20085707 10528 NM_006392,NR_027700,AL049712,CH471133,AK097186,AK292721,BC004937,BC018421,BC035369,BC104791,BC104793,BG429581,BX647439,BX647513,CR598249,CV338938,Y12065 NP_006383,CAC01444,CAI22416,CAI22418,EAX10584,EAX10585,EAX10586,EAX10587,EAX10588,EAX10589,BAF85410,AAH04937,AAH18421,AAI04792,AAI04794,CAA72789,O00567,Q5JXT4,Q9BSN3 Hs.376064 NOL5A nucleolar protein 56|nucleolar protein 5A (56kD with KKE/D repeat)|nucleolar protein 5A (56kDa with KKE/D repeat) protein-coding 1342956 NOP56P1 NOP56 ribonucleoprotein homolog (yeast) pseudogene 1 646192 NG_006572,AL662890,AL844539,AL901607,BX088523,CR753651 NOL5B|NOL5BP|NOP56-L|dJ207F6.1 pseudo 619551 NOS1 nitric oxide synthase 1 (neuronal) Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. This gene encodes a nitric oxide synthase which is highly expressed in skeletal muscle. Genetic variations in this gene are associated with infantile hypertrophic pyloric stenosis type 1. 1581141,1581142,1581143,1581144,1642127,1642129,1642130,1642131,1581689,1642136,1642141,1642145,1642151,1642133,1642134,1642140,1642144,1642148,1642132,1642138,1642142,1642147,1580863,1358519,1300048 17029414,7488039,7545544,18391107,17568574,18048451,9892689,16276418,17892502,17027776,19603529,19505917,19457105,19433760,19423521,19415232,19372141,19371282,19328558,19326438,19258923,19247692,19161160,19124687,19103196,19087148,20888049,20921115,21039601,21041608,21052031,20705916,20052609,20435320,20232214,20447567,12210288,12140778,12081996,12081486,11960979,11890749,11849441,11849436,11786430,11747091,11668616,11591728,11590170,11546971,11525805,11511520,11404282,11284722,11112111,11086993,11052978,11043403,10874031,10824095,10681501,10518591,10488080,10400690,10221915,10187848,9837926,9808772,9791007,9459447,9353265,9111048,8922396,8879752,8864115,8625413,7685260,7682706,7678401,7558036,7528745,7515942,1385308,1379716,1375933,10443886,10203575,10068656,9870939,8943206,7561697,8581564,7521167,11867766,9412493,12237228,19086053,18977241,18971208,18953332,18720901,18675932,18671896,18614941,18606955,18591664,18563708,18544180,18541744,18465682,18257968,18086269,18058820,18042235,18024942,17970747,17924542,17703412,17690329,17660395,17601350,17579350,17536218,17492662,17466601,17459909,17448763,17418914,17365914,17359361,17351927,17351066,17328085,17174475,17161551,17161399,16950998,16848803,16690617,16569214,16413742,16389274,16380905,16238787,16229016,16191396,15856945,15765269,15699372,15548660,15466472,15287858,15251453,15242984,15194886,15191553,15180967,15167446,15161750,15119548,15105416,15094474,15088155,15080837,15075442,15044250,15033959,14980078,14760158,14759629,14757827,14752097,14711010,14623375,14615895,14602725,12947326,12911502,12908999,12816735,12802542,12787407,12782337,12777376,12759556,12715886,12686399,12646269,12630910,12572877,12531780,12490535,12485841,12477932,12445599,12421162,12403769,11149895,12184796,18821565,19423540,19513863,19552920,19657898,19687346,19711100,19726320,19726747,19805695,19844207,19851341,19948738,19997858,20016223,20028935,20043967,20056178,20186396,20379614,20385275,20395963,20406964,20421643,20438785,20470850,20503287,9880522,20729196,20547234,21119059,19089323,19913121,20581851,20589495,20605417,20609134,20628086,20645313,20818978 1581141,1581142,1581143,1581144,1642127,1642129,1642130,1642131,1581689,1642136,1642141,1642145,1642151,1642133,1642134,1642140,1642144,1642148,1642132,1642138,1642142,1642147,1358519 4842 NM_000620,NG_011991,AC026364,AC068799,AY098642,AY445095,CH471054,U17326,AJ004918,AK294435,AK307481,BC033208,D16408,EU753241,L02881,U17327,U31466,AF446131,AF446132,AF446133,AF446134,AF446135,AF446136,AF446137,AF446138,AF446139,AF446140 NP_000611,AAR07069,EAW98108,EAW98109,EAW98110,AAB60654,CAA06218,BAG57679,AAH33208,BAA03895,ACF04132,AAA36376,AAA62405,AAB49040,O75713,P29475,AAI56400,AAI72474 Hs.654410,Hs.684465,Hs.684466,Hs.684467 IHPS1|N-NOS|NC-NOS|NOS|bNOS|nNOS N-NOS|NC-NOS|NOS type I|OTTHUMP00000174428|bNOS|constitutive NOS|neuronal NOS|nitric oxide synthase, brain|peptidyl-cysteine S-nitrosylase NOS1 protein-coding 732118 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. [provided by RefSeq] 19913121,20602773,20628086,20722683,9459447,11043403,19339362,19305409,19255043,19247217,19204306,19180230,19111066,19077434,19076153,19019189,18927126,18785031,18766325,18551039,18511491,18474209,18430503,18337493,18235038,18077426,17903306,17576865,17565224,16710414,16648850,16202394,16146415,15707951,19305408,15489334,12477932,11867766,11086993,11076863,10827173,9455484,20921115,20921969,19289301,19553464,19587794,19643915,19800018,19822806,19937226,19943157,19948975,20031603,20062061,20062063,20215044,20305679,20379614,20398908,20538168,20541371 9722 NM_014697,NM_001126060,AL450163,AL512785,AL590408,CH471067,AB007933,AF037070,AI198232,AY841899,BC041382,BC112295,BC143771,BC143780,NG_015979,NM_001164757 NP_055512,NP_001119532,CAH73230,CAI15779,CAH71497,EAW90700,BAA32309,AAC39656,AAW57298,AAI12296,O75052,Q3T551,AAI11929,AAI18500,AAI43772,NP_001158229 Hs.655000 6330408P19Rik|CAPON|MGC138500 C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON)|C-terminal PDZ ligand of neuronal nitric oxide synthase protein|c-terminal pdz domain ligand of neuronal nitric oxide synthase|carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein|ligand of neuronal nitric oxide synthase with carboxyl-terminal PDZ domain|nitric oxide synthase 1 adaptor protein protein-coding 730951 NOS2 nitric oxide synthase 2, inducible Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580261,1580264,1580265,1580268,1298023,1580936,1580937,1580938,1580939,1580940,1580941,2313218,2313220,2313210,2313212,2312484,1582119,1358529,1300048,2313214,2313217,4891455,4891910,4891426,4891957,4892078,2325278,2325257,2325259,2325248,2325262,4891411,4891438,4891143,4891375,4891468,4891419,4891432,4891441,4891444,4891445,4891488,4889847,4891919,4891937,4891424,4891463,4891480,4891909,2325277,2325241,2325254,2325265,2325251,4891153,4891154,4891161,4891384,4891482,4891497,4891494,4891924,4891925,4891935,4891950,4891952,4891953,4891958,4892083,2325250,4891407,4891414,4891449,4891454,4891462,4144112,4891508,2325242,4891490,4892082,2325280,4891465,4891470,4891374,4891398,4891486,4891506,4891415,4144122,4891457,4891947,4891913 18279675,12477932,7692964,17953212,18070432,20228252,20978357,20542496,20232214,20600019,20711808,20811626,20888049,20953189,21039601,21052031,21054877,21067489,20405237,7504305,18390757,7544003,10450191,8383325,19635578,19624767,19559392,19540363,19505917,19479237,19443702,19423521,19415311,19403642,19402223,19395279,19381485,19362296,19337240,19336370,19334623,19327239,19317804,19309520,19307105,19306295,19291698,19286578,19263529,19258923,19247692,19242068,19225544,19220629,19184355,19178812,19168583,19161531,19161160,19153766,19147409,19139419,19135542,19132106,19131662,19131335,19130609,19120907,19103526,19096157,19086053,19074885,19074427,19064572,19059114,19039588,19038328,19028820,19012493,18977990,18977241,18974840,18945831,18936436,18923065,18828052,18820242,18774388,18753331,18753139,18720901,18714530,18676870,18676680,18675932,18668140,18660489,18648197,18625015,18597705,18585800,18580885,18579559,18579232,18567618,18563708,18515325,18510611,18502573,18500734,18474259,18472017,18465682,18459037,18414703,18398039,18349295,18313411,18301246,18287876,18281043,15222037,15222024,15205363,15180967,15174013,15115662,15112337,15107292,15100320,15044505,15026539,14991947,14985675,14981908,14764920,14740870,14715665,14677189,14638407,14636285,14634838,14623011,14616549,14614209,14614131,14574328,14551604,12960352,12958187,12948935,12937869,12919943,12875991,12828935,12824008,12816735,12800233,12799216,12788789,12777376,12768436,12736741,12732844,12709136,12690222,12687343,12641410,12631094,12607534,12601489,12598314,12590140,12578118,12552317,12533668,12509623,12508391,12490535,12489192,12486325,12482371,18254476,18217711,18184270,18091741,18079278,18077487,18050214,18029351,18024942,17991113,17955236,17940019,17928287,17908769,17884453,17881462,17855767,17854833,17849424,17804409,17761309,17720813,17709521,17703412,17693978,17687170,17675371,17674321,17657783,17601350,17600738,17553719,17507652,17492662,17492134,17482959,17475563,17456572,17408468,17404026,17355643,17328085,17322004,17320454,17296902,17272999,17267840,17240318,17233833,17223386,17189532,17177683,17174475,17160951,17159127,17149600,17072962,17070777,17070441,17065568,17062169,17062130,16950998,16950790,16937436,16928712,16924421,16919057,16889995,16865710,16848803,16823855,16820946,16813666,16771679,16703578,16684839,16681724,16634870,16574921,16569659,16557582,16543247,16464859,16456243,16442500,16352737,16335796,16326029,16311916,16290060,16288199,16282997,16265698,16260491,16243805,16211247,16195370,16191398,16136006,16126846,16105645,16020977,15940772,15922861,15856945,15856071,15849807,15838334,15784171,15754329,15695237,15683721,15654505,15642965,15631946,15631944,15617837,15609395,15601772,15583989,15532709,15494775,15492785,15484300,15482484,15482399,15349722,15284293,15275951,15271950,15259072,15242984,15226517,12462194,12459168,12452003,12445599,12445411,12433515,12431203,12421162,12406306,12399227,12381793,12374680,12296866,12243747,12237122,12223351,12221289,12195390,12174362,12167619,12140750,12135432,12125143,12119468,12117977,12097137,12081717,12080081,12060397,11985871,11985259,11978184,11956620,11907646,11880293,11849384,11783017,11761338,11692109,11579140,11525805,11457725,11443559,11424980,11422783,11397889,11297817,11294696,11114180,11050162,10842192,10446807,10409685,10393859,10074942,9916929,9239710,9160867,8760410,8699932,8653828,8645258,7558036,7544004,7532248,7531687,7531613,7528106,7528017,7526541,7524082,7522054,7514565,7509810,10443886,10203575,10068656,9870939,8943206,7561697,15285794,7682706,20868689,20069397,20547234,20541418,18571252,20027603,19482272,19913121,20536507,20562898,20565800,20581851,20600009,20603037,20628086,20634424,20644561,20673868,20811009,20675273,20850837,20886685,19089323,19713467,12855682,16116474,16573167,18835789,19170196,19238344,19423540,19467240,19495976,19497798,19539448,19575238,19614918,19625176,19667218,19669598,19692168,19692623,19723394,19737939,19741110,19773451,19788069,19797159,19797925,19828635,19837302,19847812,19859740,19875457,19912632,19953876,19996333,20022949,20028935,20056178,20059423,20074466,20086011,20100830,20300066,20346360,20374233,20398908,20406964,20416077,20438785,20452482,20453000,20459417,20459687,20503287,9284131 1580261,1580264,1580265,1580268,1298023,1580936,1580937,1580938,1580939,1580940,1580941,2313218,2313220,2313210,2313212,2312484,1582119,1358529,2313214,2313217,4891455,4891910,4891426,4891957,4892078,2325278,2325257,2325259,2325248,2325262,4891411,4891438,4891143,4891375,4891468,4891419,4891432,4891441,4891444,4891445,4891488,4889847,4891919,4891937,4891424,4891463,4891480,4891909,2325277,2325241,2325254,2325265,2325251,4891153,4891154,4891161,4891384,4891482,4891497,4891494,4891924,4891925,4891935,4891950,4891952,4891953,4891958,4892083,2325250,4891407,4891414,4891449,4891454,4891462,4144112,4891508,2325242,4891490,4892082,2325280,4891465,4891470,4891374,4891398,4891486,4891506,4891415,4144122,4891457,4891947,4891913 4843 NM_000625,NG_011470,A39980,AC130289,CH471159,DQ060518,L26055,AB022318,AF068236,AK304252,BC130283,BC144126,D26525,L09210,L24553,S75615,S76479,U05810,U20141,U31511,X73029,EU332854 NP_000616,CAA02473,EAW51048,EAW51049,EAW51050,AAY43131,BAA37123,AAC19133,BAG65119,AAI30284,AAI44127,BAA05531,AAA59171,AAA36375,AAD14179,AAD14226,AAA56666,AAB60366,AAB49041,CAA51512,P35228,Q9UM94,ADR83439,ABY87543 Hs.709191 HEP-NOS|INOS|NOS|NOS2A NOS type II|NOS, type II|hepatocyte NOS|inducible NO synthase|inducible NOS|nitric oxide synthase 2A (inducible, hepatocytes)|nitric oxide synthase, inducible|nitric oxide synthase, macrophage|peptidyl-cysteine S-nitrosylase NOS2 protein-coding 1350414 NOS2P1 nitric oxide synthase 2 pseudogene 1 1580863 19086053,11525805,9441901,7558036 645740 AC015688,U18334,U18335,U65699,NG_006943 AAC50245 NOS2C pseudo 1343413 NOS2P2 nitric oxide synthase 2 pseudogene 2 1580863 18977241,17601350,12736741,11525805,7558036,7522210 201288 AC107983,AL353997,U18332,U18333,NG_001568 AAC50232,AAC50233 NOS2B pseudo 2301119 NOS2P3 nitric oxide synthase 2 pseudogene 3 11997339 339256 NG_002717,AC015818 pseudo 735618 NOS3 nitric oxide synthase 3 (endothelial cell) Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2292097,2292119,2292124,2292067,2292077,2292105,2292131,2292133,2292068,2292075,2292076,2292078,2292110,2292111,2292070,2292088,2292100,2292113,2292134,2292140,2292074,1580937,2292125,2292142,2292080,2292081,2292109,2292089,2292090,2292091,2292103,2292146,2298575,2292098,2292126,2292129,1642825,2289120,2292144,2292151,2292087,1580269,1580271,1580277,1580278,1580279,1580280,1580281,1580282,1580143,1580283,1580284,1580286,1580863,1358752,4892007,4892062,4892042,4891426,4891909,4892068,4892012,4892044,4892058,4892080,4892053,4891415,4142792,4891407,4892040,4892052,4891989,4891999,4892004,4892049,4892051,4891960,4891991,4892059,4892061,4891993,4892038,4892009,4892054,4892010,4891954,4892011,4892013,4891961,4891384,4892039 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60191,20161734,20163778,20185342,20186148,20193212,20204503,20211321,20215811,20300066,20346360,20348277,20350566,20350698,20354497,20357201,20367485,20371606,20372828,20406466,20406610,20406964,20409549,20416077,20428939,20436351,18231735,20730725,20547234,21119059,21114867,21127294,19913121,20229525,20485444,20536507,20559724,20565248,20565774,20565909,20577119,20581851,20586099,20598027,20598694,20602615,20603037,20605946,20614130,20624112,20628086,20629643,20642368,20644561,20646511,20661250,20673868,20682687,20691505,20706876,20720556,20722785,20728041,20809776,20810793 2292097,2292119,2292077,2292105,2292131,2292133,2292068,2292075,2292076,2292078,2292110,2292111,2292070,2292088,2292100,2292113,2292134,2292140,2292074,1580937,2292125,2292142,2292080,2292081,2292109,2292089,2292090,2292091,2292103,2292146,2298575,2292098,2292126,2292129,1642825,2289120,2292144,2292151,2292087,1580269,1580271,1580277,1580278,1580279,1580280,1580281,1580282,1580143,1580283,1580284,1580286,1358752,4892007,4892062,4892042,4891426,4891909,4892068,4892012,4892044,4892058,4892080,4892053,4891415,4142792,4891407,4892040,4892052,4891989,4892004,4892049,4892051,4891960,4891991,4892059,4892061,4891993,4892038,4892009,4892054,4892010,4891954,4892011,4892013,4891961,4891384,4892039 4846 NG_011992,NM_001160109,NM_001160110,NM_001160111,AACC02000108,AC010973,AF032908,AF387340,AF415200,AF519768,CH471173,D26607,L10709,L23210,L26914,X76303,AF400594,AI082109,AK223636,AK225827,AK292928,AK300390,AK302686,AK315213,BC063294,BC069465,BU731828,CB987955,CR596138,DA859819,DQ256129,DQ256130,DQ256131,M93718,M95296,NM_000603,S80791,EU332855 NP_000594,NP_001153581,NP_001153582,NP_001153583,EAL24494,AAB87083,AAK71989,AAL07497,AAM74944,EAW54069,BAA05652,AAA36365,AAA36373,AAA36374,CAA53950,AAK83389,BAD97356,BAF85617,BAH13275,BAH13779,BAG37648,AAH63294,AAH69465,ABB79838,ABB79839,ABB79840,AAA36364,AAA36372,AAD14336,O14937,P29474,Q96J98,Q96P37,ABY87544,ADR82746 Hs.647092 ECNOS|eNOS EC-NOS|NOS type III|NOSIII|OTTHUMP00000213183|cNOS|constitutive NOS|endothelial NOS|nitric oxide synthase 3, endothelial cell|nitric oxide synthase, endothelial 2289327,2289330 BW383_H,BW384_H protein-coding 1320636 NOSIP nitric oxide synthase interacting protein 17207965,11149895,15548660,16135813,15635413,15489334,14702039,12477932,10810093 51070 NM_015953,AC010619,CH471177,AF132959,AK092444,AK291535,BC009299,BC010077,BC011249,BC047314,CR599484,AK300720 ADQ33134,NP_057037,EAW52501,EAW52502,EAW52503,AAD27734,BAF84224,AAH09299,AAH10077,AAH11249,Q9Y314,BAG62395 Hs.7236 CGI-25 eNOS interacting protein|eNOS-interacting protein|nitric oxide synthase-interacting protein protein-coding 1348478 NOSTRIN nitric oxide synthase trafficker Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM] 631971,1580863 12446846,16722822,16807357,19401682,18980613,16234328,15596140,14702039,12477932,15342556,20379614,20442744,20936779 631971 115677 AC208170,NM_052946,NM_001039724,AC009475,AC069137,CH471058,AJ532842,AK002203,AK093444,AK123698,AK290254,BC014189,BC093072,CR607601,CR609846,DQ402497,BF114987,BP334580,BQ899074,DW437437,NM_001171631,NM_001171632 NP_443178,NP_001034813,AAX93055,AAY24097,EAX11292,EAX11293,EAX11294,EAX11295,CAD58724,BAE46614,BAG52717,BAF82943,AAH14189,AAH93072,ABD62889,Q53TH8,Q8IVI9,ABM83597,ABM87125,NP_001165102,NP_001165103 Hs.189780 DaIP2|MGC20702 BM247 homolog|ENOS traffic inducer|OTTHUMP00000204806|OTTHUMP00000204850|OTTHUMP00000204851|eNOS-trafficking inducer|endothelial nitric oxide synthase traffic inducer|nitric oxide synthase traffic inducer|nitric oxide synthase trafficking|nostrin|ortholog of mouse disabled 2 interacting proein 2 protein-coding 737367 NOTCH1 Notch homolog 1, translocation-associated (Drosophila) This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq] 1358543,1580761,1580759,1580760,2302204,2299153,1334443,1580863,724389,1334450,1580758,2325328,2325330,2325324,2306423,2325310,2325323,2325288 20348880,20069356,20351309,20554499,18560356,18559519,18552977,18497996,18490439,18469855,18456406,18449208,18427106,18411416,18359760,18354251,18347015,18320325,18311147,18296609,18296446,18292942,18292500,18239137,18219106,18192969,18192230,18184405,18155729,18084619,18079963,18069660,18056171,18055449,17984306,17980397,17967789,17948123,17922104,17920003,17901244,17874453,17873882,17851046,17822320,17804701,17716607,17671232,17664272,17662764,17652726,17646409,17636029,17604336,17573339,17560996,17513037,17497677,17434929,17425682,17404512,17392684,17368826,17353266,17344417,17317671,17316355,17309564,17301032,17284587,17252014,17186020,17114293,17107915,17090547,17046738,17028268,17008890,16990763,16951331,16887975,16880534,16871543,16822655,16785210,16738328,16729972,16713569,16707600,16688224,16651424,16622004,16618808,16608439,16536739,16530044,16507111,16449526,16434391,16378632,16365048,16344560,16322473,16317090,16298817,16287852,16239965,16179393,16160079,16136053,16096376,16079893,16025100,16011479,15987768,15976178,15904468,15824732,15817159,15781650,15774577,15756589,15650752,15576031,15563588,15563463,15492845,15492044,15485896,15472075,15448134,15280477,15240571,15213460,15146197,15058751,15044485,14996707,14762442,14756819,14726396,14678992,14670925,14645224,14638857,14602722,14583609,14567914,12960155,12913000,12829602,12795601,12781689,12768030,12697902,12682059,12644465,10713164,1831692,19549918,19491270,19453261,19407245,19404845,19376776,19351817,19349467,19340001,19339697,19245433,19239437,19234458,19228774,19209236,19167678,19160126,19151773,19151708,19147749,19122673,19118200,19109228,19091404,19074836,19057901,19047145,19025652,19023031,19008176,18984862,18924608,18777195,18758480,18758479,18703315,18664540,18663146,18663143,18660822,18633435,18628966,18625637,18604200,18593982,18593928,18593923,18593716,18593473,18570928,20823234,20800871,20930168,20058190,20443831,20351182,16501043,20040020,20372862,20578140,20819778,20861909,20950370,19686049,20052673,20459529,20551051,12532332,12527910,12509463,12496471,12486116,12482957,12477932,12374741,12370358,12370315,12357247,12208848,12145413,12123574,12065598,12050162,12048239,11978185,11964309,11940670,11848684,11836628,11827460,11777909,11739188,11700865,11604511,11604490,11585921,11518718,11511084,11425854,11418662,11226752,11112321,11101851,11006133,10935626,10882063,10837024,10747963,10669757,10637481,10221902,10206645,10082551,10079256,10077672,9653148,9620803,9590294,9244302,9169836,9111040,8755477,8749394,8642313,7698746,7512837,1764995,17646408,11404076,16169070,11564735,15546612,11390662,16319921,17318174,17575125,17927876,17991315,18549623,18844067,19247952,19396152,19479935,19550121,19590514,19603167,19604236,19631984,19635999,19680556,19682396,19695258,19700410,19701457,19704010,19717984,19724860,19724883,19725072,19728763,19751190,19771395,19778842,19800882,19808903,19812212,19838210,19847202,19901516,19914349,19953094,19956862,20008221,20036815,20060575,20106965,20118921,20145124,20146266,20147635,20154720,20193271,20193370,20194747,20204271,20339081,20347265,20368328,20418862,20490451,20515335,20978353,20538790,20730882,19799080,20801121,20861920,20944675,20206691,20348013,20454918,20479883,20683149 1358543,1580761,1580759,1580760,2302204,2299153,1334443,724389,1334450,1580758,2325328,2325330,2325324,2306423,2325310,2325323,2325288 4851 NM_017617,NG_007458,AL354671,AL592301,CH471090,AB209873,AF308602,AK000012,BC013208,BC039147,BC046127,BC049843,BC063597,CN431067,CR457221,DA324222,M73980,HI574318 NP_060087,CAI16149,CAI13934,EAW88241,BAD93110,AAG33848,BAA90883,CAG33502,AAA60614,P46531,Q6IAD4,Q9NXX4,CBX47648 Hs.495473 TAN1|hN1 Notch homolog 1, translocation-associated|neurogenic locus notch homolog protein 1|notch gene homolog 1, (drosophila)|translocation-associated notch protein TAN-1 protein-coding 733357 NOTCH2 Notch homolog 2 (Drosophila) This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. [provided by RefSeq] 1580762,1580763,2302204,1580863,69906 20069356,9244302,10079256,11823422,12531696,11306509,1303260,12760378,20643108,20482849,20712903,20816152,20879858,20889853,19502414,19453261,19445024,19404845,19339697,19330030,19324937,19276344,19247373,19147558,19139842,19119320,19054571,19020324,19020323,18714373,18703315,18591388,18567820,18508802,18372903,18311147,18266235,18239137,18184405,18087195,17920003,17675579,17652726,17573339,17401372,17081983,16899352,16773578,16289162,15976178,15621797,15565166,15507668,15492845,15302935,15231748,14726396,14702039,14609630,14567914,12931033,12794074,12477932,12370315,11978185,11836628,11577080,11532344,11518718,11346656,11101851,10958687,10551863,10221902,9720489,9528802,9032325,8661110,7698746,19602701,20351182,16344560,19913121,20571754,20628086,17593975,19603167,19653042,19670153,19701457,19720844,19741467,19794065,19833888,19862325,19933996,20011512,20075150,20203524,20379614 1580762,1580763,2302204,69906 4853 NM_024408,NG_008163,AL359752,AL512503,AL596222,CH471122,U50549,X80115,AF308601,AF315356,AK027869,AK307843,AL049386,AL133036,BC071562,BG718124,U77493,DB290699,NM_001200001,GQ231534 NP_077719,CAI18974,CAH72483,CAH70182,EAW56718,EAW56719,AAB17664,AAA36377,AAG37073,BAB55419,CAB61366,AAH71562,AAB19224,Q04721,Q13560,Q6IQ50,Q96JU8,Q9UFD5,NP_001186930,ADB12482 Hs.487360 AGS2|hN2 Notch homolog 2|neurogenic locus notch homolog protein 2|notch gene homolog 2, (drosophila) protein-coding 1352421 NOTCH2NL Notch homolog 2 (Drosophila) N-terminal like 16713569,16303743,14702039,14673143,12477932 388677 NM_203458,AL592307,AK000887,AK022008,AK075065,AL833369,BC010154,BC019835,BC065219,BC084572,BC090943,BX537434,CR610471 NP_982283,CAH73993,CAH73994,BAC11381,AAH10154,AAH19835,AAH65219,AAH84572,AAH90943,CAD97676,Q7Z3S9,ACE87389 Hs.655156,Hs.683989 FLJ35032|FLJ55807|N2N Notch homolog 2 (Drosophila) N-terminal like|Notch homolog 2 N-terminal like protein|OTTHUMP00000015593|notch homolog 2 N-terminal-like protein protein-coding 732750 NOTCH3 Notch homolog 3 (Drosophila) This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq] 625426,1580764,1580765,1580766,1580767,1580768,1580769,2302204,1334441,1580863,2306423 20069356,4557798,20472562,20554499,20040020,19816816,20651241,20671266,17292860,17474147,19404845,19373490,19372454,19293235,19242647,19208840,19167727,19150886,19139365,19056668,19054571,19043263,19018300,19006080,18974129,18948701,18941948,18765654,18758477,18632624,18626519,18572291,18499132,18483410,18339869,18184405,18075987,18069660,18060036,18022198,17996090,17939118,17920003,17878719,17854869,17853970,17822871,17822320,17804716,17696940,17690848,17573339,17390743,17331978,17301032,17158237,16998728,16899352,16833034,16807713,16796587,16717210,16492242,16426270,16107360,16009764,15987768,15694192,15378071,15304596,15096408,15057824,14767686,14714274,12810003,12678157,12511775,12482954,12480758,12370315,12210282,12136071,12134625,11978185,11891328,11861701,11706120,11559313,11518718,11404076,11101851,11032621,11006133,10802807,10716263,10712431,10079256,9388399,8878478,8794055,8485581,7835890,7698746,20689064,17289033,19174371,19417009,19576955,19603167,19735738,19825845,19835636,19855400,19859875,19881544,20038773,20167921,20329594,20359736,20169447,19913121,20628086,20628624,20634891,20813781 625426,1580764,1580765,1580766,1580767,1580768,1580769,2302204,1334441,2306423 4854 NM_000435,NG_009819,AC004257,AC004663,AF058900,CH471106,X79439,AB209447,CR611252,DQ156540,DQ156541,DQ156542,DQ156543,U97669 NP_000426,AAC04897,AAC15789,AAC14346,EAW84466,CAA55955,BAD92684,AAB91371,Q14962,Q59FL3,Q9UM47 Hs.8546 CADASIL|CASIL Notch homolog 3|neurogenic locus notch homolog protein 3|notch 3 protein-coding 1354309 NOTCH4 Notch homolog 4 (Drosophila) This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. This gene may be associated with susceptibility to schizophrenia in a small portion of cases. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq] 2302204,2299153,2299156,2299155,2299154,1358753,1580863 20069356,20554499,20643108,21159651,11823422,7671825,8681805,11532344,9576833,19404845,19242354,19156168,19143821,19143814,19116923,18593923,18239137,18184405,17920003,17822320,17696940,17496152,17452726,17192952,17054719,16969274,16894623,16538185,16378929,16007227,15684396,15653273,15531924,15211628,15187023,15115916,15091315,15009827,14966150,14961038,14732589,14730600,14701863,14651518,12873802,12814948,12782960,12627456,12605097,12589427,12496471,12477932,12370315,11909975,11901359,11836628,11803454,11585921,11518718,11407996,11381258,11381257,11239712,11119607,11112321,11101851,11078798,10645000,10221902,10079256,9693032,9168133,7835890,10932176,18583979,19571808,19659809,19851445,20041166,20068161,20331378,20596622,20587610,20602615,20673877,20832056,21085055 2302204,2299153,2299156,2299155,2299154,1358753 4855 NM_004557,AB023961,AB024520,AB024578,AL662830,AL662884,AL845464,AL845509,BX284686,BX284927,BX927239,CR812478,CR933878,D86566,U89335,AK131314,AK290785,AK293692,AK294161,AL705928,BC033869,BC063815,BC140782,BC144540,BC144541,BQ023880,D63395,U95299 NP_004548,BAB20317,BAA88951,BAA88952,CAI17543,CAI18362,CAI41803,CAI18564,CAM26209,CAM25850,BAA13116,AAC63097,BAF83474,BAG57129,BAG57484,AAH63815,AAI40783,BAA09708,AAC32288,Q5SPL1,Q5STG5,Q6P3V5,Q99466 Hs.436100 FLJ16302|INT3|MGC74442|NOTCH3 Notch homolog 4|neurogenic locus notch homolog protein 4 protein-coding 1348141 NOTO notochord homeobox 15815621,15231714 344022 NM_001134462,AC010913,AK295936,AK316410 NP_001127934,BAG58721,BAH14781,A8MTQ0 Hs.694384 homeobox protein notochord|notochord homolog|notochord homolog (xenopus laevis) protein-coding 1606450 NOTUM notum pectinacetylesterase homolog (Drosophila) 12477932,17207965,18429952 147111 NM_178493,AC145207,CH471099,AB062438,BC036872,BC060882,BX365997,CR596332,CR596699,CR622664 ADQ33021,NP_848588,EAW89729,BAB93501,AAH36872,AAH60882,Q6P988 Hs.106137 OTTHUMP00000211169|protein notum homolog protein-coding 732996 NOV nephroblastoma overexpressed gene The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq] 1580863,1580971 20800603,20237132,20336664,18984771,18418052,18245529,18245471,18089610,18066593,17968313,17566092,17463287,17340618,17163153,17101694,16675545,16670264,16600215,16344560,16145471,15824736,15611078,15489334,15340161,15181016,15053922,14606958,14519668,12902636,12695522,12519873,12477932,12147716,12050162,11891184,11502835,10852911,10474687,10084601,9927660,8622864,7520150,1334251,19286457,19695675,19706598,19834535,20010302,20139355,20182440 1580971 4856 NM_002514,NG_009779,AC021733,CH471060,CS021388,X78351,AK294289,AK312355,AY082381,BC015028,CR457432,CR591257,CR623165,DA162276,X96584 NP_002505,EAW91984,EAW91985,CAI58925,CAA55146,BAG57572,BAG35274,AAL92490,AAH15028,CAG33713,CAA65403,P48745,ABM82105,ABM85287 Hs.235935 CCN3|IGFBP9 CCN family member 3|IBP-9|IGF-binding protein 9|IGFBP-9|insulin-like growth factor-binding protein 9|nephroblastoma-overexpressed gene protein homolog|nov protein|novH|protein NOV homolog protein-coding 1346053 NOVA1 neuro-oncological ventral antigen 1 This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq] 1580863 8398153,8558240,18029348,18218628,16713569,16041372,15489334,15146197,12808107,12477932,10737800,10719891,10368286,9154818,16169070,18822086,19584346,19680635 4857 AK226114,AK289639,AK291022,AK291468,BC075038,BC075039,BE644739,BE762927,BX431656,CN409914,CR616714,R60636,U04840,Z70771,NM_006489,NM_002515,NM_006491,AL079343,AL132716,CH471078,AI569678,AK301526 BAF82328,BAF83711,BAF84157,AAH75038,AAH75039,AAA16022,CAA94810,P51513,NP_006480,NP_002506,NP_006482,EAW65990,EAW65991,EAW65992,EAW65993,EAW65994,EAW65995,BAH13506 Hs.31588 Nova-1 OTTHUMP00000028191|RNA-binding protein Nova-1|onconeural ventral antigen 1|paraneoplastic Ri antigen|ventral neuron-specific protein 1 protein-coding 1317566 NOVA2 neuro-oncological ventral antigen 2 1580863 17436242,15057824,10676814,10368286,9789075,9344654,10735272 4858 NM_002516,AC006540,AC008623,AC011545,CH471126,AF083898,AI990298,BQ631784,U70477 NP_002507,AAD13116,AAF98365,EAW57397,AAC72355,AAB88661,Q9HDB7,Q9UNW9,AAI68367 Hs.375439 ANOVA|NOVA3 NOVA2|RNA-binding protein Nova-2|astrocytic NOVA1-like RNA-binding protein|neuro-oncological ventral antigen 3 protein-coding 732308 NOX1 NADPH oxidase 1 Voltage-gated proton (hydrogen) channels play an important role in cellular defense against acidic stress. They are unique among ion channels with respect to their extremely high selectivity, marked temperature dependence, and unitary conductance, which is 3 orders of magnitude lower than that of most other ion channels. NOX1 is a homolog of the catalytic subunit of the superoxide-generating NADPH oxidase of phagocytes, gp91phox. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 633401,1580972,1580973,1580863 16230485,16162660,16049136,15993942,15797632,15772651,15708375,15489334,15452132,15389790,15375166,15322091,15256399,15203187,15110393,15102091,14674687,14670934,14617635,12955083,12817011,12716910,12657628,12477932,11970841,11970839,10974555,9882350,15509740,15847608,20457132,20177149,20525691,20407038,20347035,10485709,16636067,10615049,11805326,18023288,11331784,18347018,17673675,19451223,19415232,19379824,19344766,19282028,19251588,19213944,19095734,19028840,18620548,18571150,18535108,18518859,18463417,18463161,18454176,18436303,18429753,18398843,18397177,18331504,18309110,18287880,18076063,18073139,18055552,18037128,18005670,17963706,17913709,17908694,17611574,17562703,17460729,17336700,17200123,17182005,17079781,17015444,16880255,16778989,16762923,16507994,16469512,16468977,16380495,16329988,20171273,19061439,19084060,19268528,19339277,19671250,19755710,19834108,19843513,20018867,20056178,20194723,20346360,19531958 633401,1580972,1580973 27035 NM_013955,NM_007052,NG_012567,CH471115,DQ314883,Z83819,AF127763,AF166326,AF166327,AF166328,AJ438989,AK292201,AK313678,BC075014,BC075015,BX956931,DQ424904 NP_039249,NP_008983,EAX02820,EAX02821,EAX02822,EAX02823,EAX02824,ABC40742,CAI42334,CAI42335,CAI42336,CAI42337,AAD38133,AAF23232,AAF23233,AAF23234,CAD27735,BAF84890,AAH75014,AAH75015,ABD83669,Q1ZYL4,Q5H9D4,Q8TCT3,Q9Y5S8 Hs.592227 GP91-2|MOX1|NOH-1|NOH1 MOX-1|NADH/NADPH mitogenic oxidase subunit P65-MOX|NADPH oxidase 1|NADPH oxidase 1 variant NOH-1L|NADPH oxidase homolog-1|NOX-1|mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)|mitogenic oxidase 1|nadh/nadph mitogenic oxidase subunit p65-mox protein-coding 1351952 NOX3 NADPH oxidase 3 This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. 1580863 20647313,20056178,20102709,18682798,17336700,17140397,16949073,16507994,15824103,15181005,14574404,11376945,10974555,9882350,15509740,19913121,20628086 50508 NM_015718,NG_011995,AL031773,CH471051,AF190122,AF229177,FB293916 NP_056533,CAI19957,EAW47689,AAG17121,AAG15435,Q9HBY0,AAI60172,CAP47045 Hs.247776 GP91-3|MOX-2 NADPH oxidase 3|NADPH oxidase catalytic subunit-like 3|gp91phox homolog 3|mitogenic oxidase 2 protein-coding 731542 NOX4 NADPH oxidase 4 This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants. 1580980,1580863,2324658,2324673,2324659,2324666,2324669,2324670,4762683 18783311,19061439,19375500,19388821,19409979,19540572,19542021,19657056,19671250,19681754,19701206,19834108,19843513,19995913,20031578,20056178,20163138,20346360,20360249,20375612,20379614,15927447,10869423,19574552,19415232,19337723,19280689,19276355,19057021,19036873,18849343,18845355,18593227,18573911,18539955,18508317,18473264,17983808,17940286,17717289,17585072,17553579,17501721,17481637,17472580,17369289,17237347,17200123,16987004,16754784,16563235,16532036,16344560,16324151,16249442,16230378,16179589,16019190,20396861,19779036,20457132,20457808,15883163,15721269,15706079,15618545,15572675,15489334,15356101,15322091,15256399,15210697,15155719,15102091,14966267,14702039,14670934,12482831,12477932,11997235,11376945,11032835,8889548,9882350,15509740,20039838,20177149,20427574,20407038,19913121,20531308,20628086 1580980,2324658,2324673,2324659,2324666,2324669,2324670,4762683 50507 NM_001143837,NM_001143836,NM_016931,NR_026571,AP001815,AP002404,AP003400,CH471185,AB041035,AF254621,AF261943,AJ704725,AJ704726,AJ704727,AJ704728,AJ704729,AK057189,AK291830,AK298323,AK298328,AK298357,AK298376,AK311381,AK311389,AW207163,AY288918,BC040105,BC051371,BU730205,DA970477 NP_001137309,NP_001137308,NP_058627,EAW59353,EAW59354,EAW59355,BAA95695,AAF68973,AAF87572,CAG28807,CAG28808,CAG28809,CAG28810,CAG28811,BAG51879,BAF84519,BAH12756,BAH12759,BAH12765,BAH12771,AAP41109,AAH40105,AAH51371,Q9NPH5 Hs.371036 KOX|KOX-1|RENOX NADPH oxidase 4|kidney oxidase-1|kidney superoxide-producing NADPH oxidase|renal NAD(P)H-oxidase protein-coding 1353478 NOX5 NADPH oxidase, EF-hand calcium binding domain 5 NOX5 is a novel NADPH oxidase that generates superoxide and functions as a H+ channel in a Ca(2+)-dependent manner.[supplied by OMIM] 1580863 12477932,16344560,18614798,20056178,20086178,20230798,20339118,11483596,18672905,18468509,18466778,17947454,17603936,17587483,17346712,17275676,17214994,17164239,17122966,17089090,16873416,16707484,16339585,16179589,16177112,15994299,14982937,14702039,12186557,12121572,11376945,9882350,15509740,20576920 79400 AI091544,DA739867,DA868876,NM_001184779,NM_001184780,NR_033671,NR_033672,NM_024505,AC027088,AC087639,DQ314884,AF317889,AF325189,AF325190,AF353088,AF353089,AK026011,AK074058,AK074071,AK314689,AY166601,BC125097,BC125098,CR610432,DQ413001 NP_001171708,NP_001171709,NP_078781,ABC40743,AAG33638,AAK57193,AAK57194,AAK57338,AAK57339,BAB15319,BAB84884,BAB84897,BAG37241,AAO33926,AAI25098,AAI25099,ABD92513,Q08AN2,Q08AN3,Q96PH1 Hs.657932 MGC149776|MGC149777|NOX5A|NOX5B NADPH oxidase 5|OTTHUMP00000164443|OTTHUMP00000164444|nadph oxidase, ef hand calcium-binding domain 5 protein-coding 1315446 NOXA1 NADPH oxidase activator 1 NADPH oxidases (NOXs) catalyze the transfer of electrons from NADPH to molecular oxygen to generate reactive oxygen species (ROS). The NOX activator NOXA1 can stimulate both NOX1 (MIM 300225) and NOX2 (CYBB; MIM 300481), but it appears to be more effective in activating NOX1 (Opitz et al., 2007 [PubMed 17189823]).[supplied by OMIM] 1580863 20454568,12477932,12473664,9610721,16636067,18568954,17913709,17602954,17189823,16713569,14702039,12716910,12657628,16052631,18606821,20083677,20230789 10811 NM_006647,BX322799,AB095031,AF039697,AK055812,AK098341,AY255769,AY927790,AY927791,BC041594,BC110840 NP_006638,BAC76710,AAC18046,AAP13480,AAY16126,AAY16127,AAH41594,AAI10841,Q86UR1,CAM24776 Hs.495554 FLJ25475|MGC131800|NY-CO-31|SDCCAG31|p51NOX NADPH oxidase activator 1|NCF2-like protein|Nox activator 1|antigen NY-CO-31|inhibitory NADPH oxidase activator 1|p51-nox|p67phox-like factor|serologically defined colon cancer antigen 31 protein-coding 1317206 NOXO1 NADPH oxidase organizer 1 NADPH oxidases (NOXs) catalyze the transfer of electrons from NADPH to molecular oxygen to generate reactive oxygen species (ROS). NOX organizers, such as NOXO1, target NOX activators (see NOXA1; MIM 611255) to NOX and also target NOX to different subcellular compartments (Opitz et al., 2007 [PubMed 17189823]).[supplied by OMIM] 1580863 14617635,16636067,17189823,17126813,16911517,16329988,15949904,15824103,15489334,15326186,15181005,12716910,12657628,12477932,12473664,20454568 124056 NM_144603,NM_172168,NM_172167,AC005606,CH471112,AB097667,AF532983,AF532984,AF532985,AF539796,AK292197,AK310198,AK313917,AY255768,AY191359,BC015917 NP_653204,NP_751908,NP_751907,EAW85581,EAW85582,EAW85583,EAW85584,BAC76711,AAM97925,AAM97926,AAM97927,AAN75141,BAF84886,AAO38665,AAP13479,AAH15917,Q8NFA2 Hs.191762 MGC20258|P41NOX|P41NOXA|P41NOXB|P41NOXC|SH3PXD5|SNX28 NADPH oxidase organizer 1|NADPH oxidase regulatory protein|Nox organizer 1|SH3 and PX domain-containing protein 5|nox-organizing protein 1|regulatory protein P41NOX protein-coding 1349909 NP nucleoside phosphorylase This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq] 1580863,1600263 18938130,9305962,6771276,3029074,16930574,19001417,16964310,15047506,19191546,18946041,18790691,18281957,18281956,17639373,17221831,16169070,15582582,15571269,15489334,14706628,14702039,13679062,12928150,12914785,12477932,12180982,12068295,11964161,11453975,10884411,9737781,9305964,9305963,9067751,8931706,6087295,2104852,1931007,1923769,1560016,1384322,100152,19172318,19425594,19932753,20108972,20532380 1600263 4860 CR599285,CR600826,CR601251,CR601413,CR604278,CR604317,CR606974,CR608191,CR608198,CR608316,CR612303,CR612939,CR614792,CR624654,CR625788,X00737,NG_009631,AL355075,AY817667,CH471078,J02672,M13951,M13952,M13953,AK098544,AK126154,AK307340,AK307364,AK313490,BC104206,BC104207,BC106074,CR407607,CR592961,CR594642,CR595160,CR598701,CR598851,CR598982,NM_000270,BM193354,BU622706 CAA25320,P00491,Q8N7G1,Q9P1G4,NP_000261,AAV68044,EAW66458,EAW66459,AAA36460,BAC05327,BAG36272,AAI04207,AAI04208,AAI06075,CAG28535 Hs.75514 FLJ94043|FLJ97288|FLJ97312|MGC117396|MGC125915|MGC125916|NP|PNP|PRO1837|PUNP inosine phosphorylase|purine nucleoside phosphorylase|purine-nucleoside:orthophosphate ribosyltransferase protein-coding 1320711 NPAS1 neuronal PAS domain protein 1 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq] 1580863 9012850,15489334,12477932,9079689,15635607 4861 NM_002517,AC008755,CH471126,AB054002,AK299128,BC039016,CR605653,U51628,U77968 NP_002508,EAW57454,BAB21098,BAG61181,AAH39016,AAC51214,AAB47248,Q99742 Hs.79564 MOP5|PASD5|bHLHe11 PAS domain-containing protein 5|basic-helix-loop-helix-PAS protein MOP5|class E basic helix-loop-helix protein 11|member of PAS protein 5|member of PAS superfamily 5|neuronal PAS domain-containing protein 1|neuronal PAS1 protein-coding 1320157 NPAS2 neuronal PAS domain protein 2 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq] 1580863 9079689,9012850,9576906,18990770,17984998,17457720,17453337,17264841,17096334,16628007,16528748,15489334,14702039,14645221,12655319,12477932,11441147,11439184,10864874,8889548,20211142,19913121,20554694,20628086,18819933,19457610,19470168,19649706,19693801,19839995,19934327,20072116,20095854,20149345,20174623,20180986,20368993 4862 NG_023259,AC016738,AC092168,AC106891,CH471127,AK026791,AK091939,AK095806,AK128586,AK226093,BC028107,NM_002518,BC035412,BC051351,BC072383,BM724652,BX640699,U51625,U77970,EF015903,AK294733 NP_002509,AAY14822,AAX88966,EAX01830,EAX01831,EAX01832,EAX01833,EAX01834,EAX01835,BAB15554,AAH28107,AAH51351,AAH72383,AAC51211,AAB47250,Q99743,Q9H5R6,ABM64214,BAH11862 Hs.156832,Hs.705895 FLJ23138|MGC71151|MOP4|PASD4|bHLHe9 PAS domain-containing protein 4|basic-helix-loop-helix-PAS protein MOP4|class E basic helix-loop-helix protein 9|member of PAS protein 4|member of PAS superfamily 4|neuronal PAS domain-containing protein 2|neuronal PAS2 protein-coding 1316218 NPAS3 neuronal PAS domain protein 3 1580863 19913121,20628086,18029348,18521090,18519826,18317462,18195134,15820313,12746393,10534623,20466522,12477932,14702039,17008307,18711365,19073416,19073419,19573479,20379614,20713499 64067 NM_173159,NM_022123,AL109769,AL133305,AL139296,AL157689,AL158802,AL161851,AL355886,CH471078,AB054575,AB054576,AB055962,AF164438,AI811363,AL079281,AY157302,AY157303,AK000865,AK002000,AK021667,BC035075,CR597514,NG_013036,NM_001164749,NM_001165893 NP_775182,NP_071406,EAW65930,BAB21221,BAC53754,BAC53756,AAG35180,CAB45154,AAO17043,AAO17044,Q8IXF0,AAI46318,NP_001158221,NP_001159365 Hs.657892,Hs.667344,Hs.675437,Hs.675475 FLJ10003|FLJ11138|FLJ11605|MOP6|PASD6|bHLHe12 OTTHUMP00000178812|PAS domain-containing protein 6|basic-helix-loop-helix-PAS protein MOP6|class E basic helix-loop-helix protein 12|member of PAS protein 6|neuronal PAS domain-containing protein 3|neuronal PAS3 protein-coding 734007 NPAS4 neuronal PAS domain protein 4 NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM] 15489334,14702039,14701734,12477932 266743 NM_178864,AP001107,CH471076,AB049469,AK094025,AK096253,BC105001,BC105003,BC143630 NP_849195,EAW74525,BAC19830,BAC04271,BAC04738,AAI05002,AAI05004,AAI43631,Q8IUM7,ABZ92417 Hs.256036 Le-PAS|NXF|PASD10|bHLHe79 HLH-PAS transcription factor NXF|PAS domain-containing protein 10|class E basic helix-loop-helix protein 79|neuronal PAS domain-containing protein 4|neuronal PAS4 protein-coding 1323667 NPAT nuclear protein, ataxia-telangiectasia locus 19277982,19170105,18677100,17974976,17967892,17449237,16344560,15555599,14612403,12887926,12724424,12665581,12477932,12473189,10995386,8923007,8789452,8743993,9472014,9205109,14585971,15988025,17163457,17577209,18850719,19692168,19890848,20190802,19913121,20628086,21050672 4863 NM_002519,AP001925,AP002433,CH471065,D89854,AK290020,AK291687,AK301256,BC040356,BC050561,BC094769,BC136270,D83243,DA338219,U58852,X91196,X97186 NP_002510,EAW67106,EAW67107,BAA21367,BAF82709,BAF84376,BAG62823,AAH40356,AAH50561,AAI36271,BAA11861,AAB02735,CAA62602,CAA65824,Q14207,Q7KYL7 Hs.171061,Hs.367437 E14|p220 E14|NPAT|nuclear protein of the ATM locus|nuclear protein of the ataxia telangiectasia mutated locus|protein NPAT protein-coding 736156 NPB neuropeptide B Neuropeptide B (NPB) is an endogenous peptide ligand for G protein-coupled receptor-7 (GPR7; MIM 600730).[supplied by OMIM] 12401809,15489334,12477932,12118011,8889548,18240029,18577758 256933 NM_148896,AC145207,CH471099,AB085942,AF525737,BC033173,BC126128,BC126485,BC146875,BC146890,BM978256,AF525738 AAI46891,NP_683694,EAW89704,BAC07175,AAP80794,AAI26129,AAI26486,AAI46876,Q8NG41,AAP80795 Hs.569843,Hs.708916 PPL7|PPNPB L7|hPPL7|neuropeptide B|preproneuropeptide B|preproneuropeptide b|preproprotein L7 protein-coding 1314235 NPBWR1 neuropeptides B/W receptor 1 1580863 12719537,12477932,12130646,12118011,7590751,12401809,17437806,15797961,15607941,18240029,18577758 2831 NM_005285,AC087348,CH471068,U22491,BC069117,BC107101 NP_005276,EAW86722,AAC50197,AAH69117,AAI07102,P48145 Hs.248117 GPR7|MGC129755 G protein-coupled receptor 7|G-protein coupled receptor 7|neuropeptides B/W receptor type 1|opioid-somatostatin-like receptor 7 protein-coding 1349448 NPBWR2 neuropeptides B/W receptor 2 The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor. The encoded protein is similar in sequence to another G protein-coupled receptor (GPR7), and it is structurally similar to opioid and somatostatin receptors. This protein binds neuropeptides B and W. This gene is intronless and is expressed primarily in the frontal cortex of the brain. 1580863 7590751,12401809,15797961,12719537,12477932,12130646,11780052,18240029,2834384,17207965,18577758 2832 NM_005286,AL121581,CH471077,U22492,BC067481,BC067482,BC067483 NP_005277,CAC17004,EAW75161,AAC50198,AAH67481,AAH67482,AAH67483,P48146,Q6NWQ5,ADQ32076 Hs.248118 GPR8 G protein-coupled receptor 8|G-protein coupled receptor 8|neuropeptides B/W receptor type 2|opioid-somatostatin-like receptor 8 protein-coding 1318462 NPC1 Niemann-Pick disease, type C1 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments. 1601483,1580863 9245994,20712903,20843981,19746448,20497909,16757520,9927649,12719428,12554680,10821832,19563754,19252935,19206179,19151714,19074461,19029290,19007772,18834923,18636124,18591242,18272928,18272927,18216017,17989072,17662536,17160616,17020879,17008555,16778374,16644737,16174794,16054367,15908696,15774455,15681833,15632139,15596783,15489334,15459971,15347664,15342556,15314240,15069562,12477932,12408188,12401890,12398991,12125814,11907140,11754101,11479732,11349231,11333381,10521297,10521290,10480349,10425213,9990080,9866822,9634529,9559270,9458174,9211850,9211849,8446622,19965586,20955564,19913121,20571217,20571754,20628086,16141411,17183645,19474101,19815536,19851340,19878569,20007703,20489167 1601483 4864 DR159421,NG_012795,AC010853,AF123046,AF157379,AF338230,CH471088,AF002020,AI242474,AK293779,AK295715,AK308491,BC063302,BP217319,CA438246,CR600440,NM_000271,AB209048 NP_000262,AAF28875,AAD48006,AAK25791,EAX01158,AAB63982,BAG57194,BAG58559,AAH63302,O15118,Q59GR1,BAD92285 Hs.464779,Hs.715623 FLJ98532|NPC Niemann-Pick C1 protein protein-coding 1345181 NPC1L1 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 1642184,1642185,1642183,1580863 15679830,15671032,15604518,14976318,12690205,12477932,10783261,19443194,20144195,20222991,17140581,19265861,19071091,18850127,18783541,18641716,18641187,18522832,18522826,18413323,18403720,18373109,18080173,18031309,17662536,17571164,17102949,17005902,16829661,16518588,16449388,16297596,16098225,15928087,15790807,19325169,19747803,19752398,20379057,20460578,20855565,19823104,19913121,20628086,20679960,20686565 1642184,1642185,1642183 29881 NM_001101648,NM_013389,AC004938,CH236960,CH471128,AF192522,AF192523,AY437865,AY515256,AY927603,BC117178,BC143731,BC143756,FJ481111,NG_013088 NP_001095118,NP_037521,EAL23753,EAW61096,EAW61097,EAW61098,AAF20396,AAF20397,AAR97886,AAS56939,AAI17179,AAI43757,ACL18055,Q17RV5,Q9UHC9 Hs.567486 NPC11L1 Niemann-Pick C1-like protein 1 protein-coding 1353089 NPC2 Niemann-Pick disease, type C2 This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq] 1601483 19913121,20628086,17018531,15110773,12719428,18029348,11125141,19252935,18823126,18636124,17895371,17470133,17387528,16772431,16606609,16374838,15937921,1693137,20674861,20650896,15489334,14662784,12591949,12477932,12447927,12398991,12125814,11567215,10479477,9373149,8924505,8418812,8125298,16141411,16548883,19664597,19723497,20007703,19746448 1601483 10577 NM_006432,NG_007117,AC005479,CH471061,AK222474,AK298975,AK300879,AK311931,BC002532,CR595914,CR601885,CR605546,CR608935,CR609490,CR622486,CR624497,X67698 NP_006423,EAW81176,EAW81177,EAW81178,BAD96194,BAG61069,BAG62522,BAG34872,AAH02532,CAA47928,P61916,Q53HV6,ABM82833,ABM86019 Hs.433222 EDDM1|HE1|MGC1333|NP-C2 epididymal protein 1|epididymal secretory protein E1|human epididymis-specific protein 1|niemann-Pick disease type C2 protein|tissue-specific secretory protein protein-coding 1352810 NPCDR1 nasopharyngeal carcinoma, down-regulated 1 246734 Q9BY65 AF134979 1353727 NPDC1 neural proliferation, differentiation and control, 1 1580863 16189514,15563841,15489334,15229225,14702039,12477932,11245976,11042687,10970871,9373149,9181131,8125298,7878019 56654 NM_015392,AL807752,CH471090,AF272357,AF283247,AF285836,AF327349,AK054950,AK074793,AK225091,AL050221,BC004217,CR593516,CR595396,CR595553,CR597998,CR605121,CR618636,CR619157,CR621251,CR621502,CR626507 NP_056207,CAI12774,CAI12775,EAW88335,AAF76225,AAF82603,AAK27328,AAL56010,BAC11212,CAB43321,AAH04217,Q8NCE1,Q8WXX4,Q9NQX5 Hs.719906 CAB|CAB-|CAB-1|CAB1|DKFZp586J0523 NPDC-1|neural proliferation differentiation and control protein 1 protein-coding 1322762 NPEPL1 aminopeptidase-like 1 1580863 15489334,14702039,12477932,11853319,11780052,9373149,8125298 79716 NM_024663,AL139349,CH471077,AB075854,AK021645,AK124059,AK124479,AK126390,AK223094,AK297667,AK307771,AK315684,AL833971,BC020507,BM544905,CR607400 CAX14988,NP_078939,EAW75474,EAW75475,EAW75476,EAW75477,EAW75478,EAW75479,EAW75480,BAB85560,BAB13861,BAD96814,BAG60029,BAG38049,CAD38816,AAH20507,Q59G13,Q8NDH3,ABM82551,ABM85742,ABM87826 Hs.554211,Hs.654868 FLJ11583|FLJ42065|bA261P9.2 probable aminopeptidase NPEPL1 protein-coding 1354170 NPEPPS aminopeptidase puromycin sensitive This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq] 1580863 10329370,17353931,9048733,15489334,14706550,14702039,12477932,11435692,10582526,10037494,8889548,8082751,7592939,3171591,20562859,19494703,19615732,20377816 9520 NM_006310,AC025682,AF252387,CH471109,AA864462,AK095877,AK096491,AK096709,AK293450,AK293995,AK296887,AK297107,AK303037,BC065294,BM723238,DB476543,AJ132583,AC183084 NP_006301,AAF70086,EAW94811,EAW94812,EAW94813,CAA10709,BAG53154,BAG53355,BAH11510,BAH11645,BAH12449,BAH12498,BAH13885,AAH65294,P55786 Hs.727532 AAP-S|MP100|PSA cytosol alanyl aminopeptidase|metalloproteinase MP100|puromycin-sensitive aminopeptidase protein-coding 736374 NPFF neuropeptide FF-amide peptide precursor FMFRamide-related protein precursor plays a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. FMRFAL encodes a preproprotein which is cleaved to form two active peptides with similar function. [provided by RefSeq] 1580863,61673 16754659,9224703,10851242,17854890,17224450,16336216,12609745,12477932,12149260,11587714,11325787,11024015,9786165,8804117,7784266,18577758 61673 8620 NM_003717,AC023509,AF503515,CH471054,AF005271,BC035758,BC104234,BC104235 NP_003708,EAW96721,EAW96722,AAB64288,AAI04235,AAI04236,O15130,Q3SXL4 Hs.104555 FMRFAL FMRFamide-related peptides protein-coding 1351737 NPFFR1 neuropeptide FF receptor 1 633416,1580863 11024015,11025660,16754659,12477932,16385451,20027225,20379614 633416 64106 NM_022146,AB065729,AL355138,CH471083,AB040104,AF268898,AF330055,BC131580,EU432128 NP_071429,BAC05950,CAI12599,EAW54387,BAB17677,AAG41397,AAK94199,AAI31581,ABY87927,Q5T6D8,Q9GZQ6 Hs.302026 FLJ10751|GPR147|NPFF1|NPFF1R1|OT7T022 G protein-coupled receptor 147|G-protein coupled receptor 147|RFamide-related peptide receptor OT7T022|g protein-coupled receptor 147|neuropeptide FF 1|neuropeptide FF receptor 1 protein-coding 733261 NPFFR2 neuropeptide FF receptor 2 This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 10851242,10079187,18565622,17503329,17157836,16488513,16336216,15608144,15146197,15127947,12609745,12606605,12477932,11024015,10837915,18029348,16754659,19944730 10886 NM_004885,NM_001144756,NM_053036,AC106051,AC106898,CH471057,AF119815,AF236083,AF257210,AF268899,AF330053,AJ311393,AK290937,AK308069,BC101636,BC113713,CN285250 NP_004876,NP_001138228,NP_444264,EAX05647,EAX05648,EAX05649,EAX05650,AAD22047,AAK58513,AAF87078,AAG41398,AAK94197,CAC85427,BAF83626,AAI01637,AAI13714,Q9Y5X5 Hs.99231 GPR74|HLWAR77|NPFF2|NPGPR G protein-coupled receptor 74|G-protein coupled receptor 74|G-protein coupled receptor HLWAR77|OTTHUMP00000160368|neuropeptide FF 2|neuropeptide FF receptor 2|neuropeptide G-protein coupled receptor protein-coding 1344630 NPHL1 nephrolithiasis 1 (X-linked) 8099916 4865 1317734 NPHP1 nephronophthisis 1 (juvenile) This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17207965,20981449,21068128,12244321,12006559,9361039,12205563,10665934,18512082,18477472,18054307,17855640,17513324,17409309,16900087,16885411,16782989,16762963,16724659,16713569,16308564,15661758,15489334,15138899,12872123,12872122,12477932,11493697,10839884,10739664,10712196,9856524,9587065,9373149,9326933,8852662,8125298,7806215,16374509,18633336,19718658,20424473 4867 NM_000272,NM_207181,NM_001128178,NM_001128179,NG_008287,AC013268,AC092664,CH878608,AF023674,AI433852,AJ001815,AK225600,AK299011,AK307654,BC009789,BC032939,BC062574,BX571745,DB454094,AC140479 ADQ32422,NP_000263,NP_997064,NP_001121650,NP_001121651,EAW50631,EAW50632,EAW50633,EAW50634,EAW50635,EAW50636,EAW50637,AAC51771,CAA05030,BAG61092,AAH62574,CAE11870,O15259,Q7Z2W3 Hs.280388 FLJ97602|JBTS4|NPH1|SLSN1 OTTHUMP00000207141|OTTHUMP00000207142|juvenile nephronophthisis 1 protein|nephrocystin 1|nephrocystin-1 protein-coding 1342817 NPHP3 nephronophthisis 3 (adolescent) This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 12872122,18029348,19303681,19177160,18371931,17855640,15489334,15381417,14702039,12477932,12056414,11752023,11134256,10631142,21102462,21068128 27031 NM_153240,NG_008130,AC055732,CH471052,AB056657,AI200954,AK055253,AK055893,AK092910,AK093012,AK094015,AL832863,AY257864,AY257865,AY257866,AY257867,BC063277,BC068082,BC131729,CR749498,AL832877 NP_694972,EAW79187,BAB70891,BAB71038,BAC04018,BAC04268,CAI46200,AAP83423,AAP83424,AAP83425,AAP83426,AAH68082,CAH18321,Q7Z491,Q7Z494,Q8NAA7,CAI46202,AAI72279 Hs.511991 DKFZp667K242|DKFZp781K1312|FLJ30691|FLJ36696|KIAA2000|MGC78666|MKS7|NPH3|RHPD nephrocystin 3|nephrocystin-3 protein-coding 1351118 NPHP4 nephronophthisis 4 This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 12244321,12006559,12205563,17954299,17855640,17672918,16339905,15776426,15661758,14702039,12477932,11920287,9734811,20844548,21068128,16131712,18076122,19118152,19260139,19305408,19755384,20379614 261734 BC040520,BC050076,BU621804,BC028627,NM_015102,NG_011724,AL035406,AL356261,AL356693,CH471130,AB014573,AF537130,AK124074,AK127333,AK314326,AL117405,AY118228,BC015402,AK128182 AAH40520,O75161,Q5VXT8,Q6ZSL3,Q8IWC0,Q9UFQ2,NP_055917,CAI19892,CAI14749,CAH72672,CAH72673,EAW71507,EAW71508,EAW71509,EAW71510,EAW71511,BAA31648,AAN06814,BAG53998,BAC86935,CAB55906,AAM78558 Hs.462348 FLJ46306|KIAA0673|POC10|SLSN4 OTTHUMP00000221425|POC10 centriolar protein homolog|nephrocystin 4|nephrocystin-4|nephroretinin protein-coding 732787 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) Nephrin is a kidney glomerular filtration barrier protein that is an essential component of the interpodocyte-spanning slit diaphragm. Mutations in the nephrin gene are associated with congenital nephrotic syndrome (NPHS1; MIM 256300).[supplied by OMIM] 737766,737765,1580863 20457601,19470472,19406966,19179337,19077682,18614772,18562307,18503012,18480178,18449463,18258597,18212058,17923684,17413422,17395751,17371932,17290294,17255128,17211152,16968782,16968734,16644649,16543952,16288986,16010520,15942677,15780077,15659563,15634346,15545998,15504938,15339792,15331416,15167446,15149332,15086927,14747939,14736962,14633607,12961083,12920248,12865409,12853730,12846735,12668668,12663475,12660326,12631336,12495287,12436341,12407641,12368218,12324903,11961028,11854170,11733557,11692461,11692176,11562357,11241530,10997929,10652016,10577936,10550324,10393930,19520069,20172850,20650908,20576809,20138859,16525419,9660941,9915943,19913121,20628086,19321760,19443487,19587356,19671286,19746264,19812541,19816048,19833886,20237496,20424473,20507940 737766,737765 4868 NM_004646,AC002133,AF035835,AF126957,AF190637,AK310731,BX103667,EU642886,EU642887,NG_013356 NP_004637,AAC39687,AAF36451,AAG17141,ACH99862,O60500,AAI56196,AAI56936 Hs.122186 CNF|NPHN|nephrin nephrin|renal glomerulus-specific cell adhesion receptor protein-coding 736986 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq] 1580863 17218332,17216259,17211152,17175312,16968734,16898497,16572591,16481888,16439601,15954915,15942677,15817495,15780077,15769810,15659563,15496146,15489334,15327385,15322893,15253708,15167446,14871423,14675423,14570703,12961083,12707396,12687458,12649741,12617336,12477932,12464671,12368218,12089392,11908478,11854170,11805166,11733557,11729243,11562357,11241850,10802674,12424224,10742096,19406966,19395786,19371226,19145239,18823551,18726620,18543005,18519826,18499321,18334793,18216321,18208440,18058136,18000687,17968527,17942957,17934764,17899208,17699384,17635752,17393177,17371932,19520069,19536175,19562271,19674119,20001346,20025681,20442690,20507940,20457601,8589695,19913121,20628086,19099831,20947785 7827 NM_014625,NG_007535,AJ279246,AL160286,CH471067,AJ279254,BC029141,BX095913 NP_055440,CAB83272,CAI15397,CAI15398,EAW91049,EAW91050,CAB83216,AAH29141,Q9NP85 Hs.412710 PDCN|SRN1 podocin protein-coding 1343791 NPIP nuclear pore complex interacting protein 12477932,11586358,10493829,1158635,18055785 9284 NM_006985,AC002045,AC138932,CH471092,AF132984,AK160377,AK294177,BE253379 NP_008916,AAC05437,AAC05438,EAW83295,EAW83296,AAD34394,BAD18720,BAG57496,O15103,Q3LIA7,Q6ZMK5,Q9UND3,AAI46423 Hs.676266 FLJ42525|FLJ44848 nuclear pore complex-interacting protein protein-coding 1604418 NPIPL1 nuclear pore complex interacting protein-like 1 10493829,12477932 440350 AC138894,NG_023370 O75200,AAI56859 A-575C2.4|A-761H5.5 nuclear pore complex interacting protein-like 1|nuclear pore complex-interacting protein-like 1 pseudo 1602024 NPIPL2 nuclear pore complex interacting protein-like 2 10493829 440348 XM_002344099,AC002544,AC009053,XM_003118720 A6NHN6,XP_002344140,AAC27428,O75199,AAI60029,XP_003118768 A-761H5.4 OTTHUMP00000211015|nuclear pore complex-interacting protein-like 2 protein-coding 2306329 NPIPL3 nuclear pore complex interacting protein-like 3 15616553,15489334,12477932,11948212,9039502,8889548 23117 AA579987,NM_130464,AC008740,AK128772,AK294452,AK295170,AK303166,AK303500,AK304162,AK308629,AK316459,AY498718,BC036263,BC061522,BC073943,BC094882,BM557638,BM710413,BQ721066,BQ950195,DC342292,AB209632 NP_569731,BAC87606,BAG57689,BAG58180,BAG64266,BAG64533,BAG65049,BAH14830,AAS48701,AAH36263,AAH61522,AAH73943,AAH94882,A8MRT5,Q92617,BAD92869 Hs.656853,Hs.710490,Hs.720286,Hs.611072,Hs.632865,Hs.656872 FLJ17456|FLJ45371|FLJ54505|FLJ58661|FLJ79358|FLJ98670|KIAA0220|KIAA0220L|MGC105000|MGC70907 KIAA0220-like protein|PI-3-kinase-related kinase SMG-1 isoform 1 homolog|nuclear pore complex-interacting protein-like 3|protein pps22-1|putative NPIP-like protein KIAA0220-like protein-coding 1348386 NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) N-acetylneuraminate pyruvate lyase (EC 4.1.3.3) controls the cellular concentration of sialic acid by catalyzing the conversion of sialic acid into acylmannosamines and pyruvate (Wu et al., 2005 [PubMed 16147865]).[supplied by OMIM] 1580863 19057931,16710414,16147865,15489334,12477932,11737202,11318611,12453637 80896 NM_030769,AL355999,AL513344,CH471067,AF338436,AK297017,AK301068,AK313225,AY336748,BC034966,BC042003,BC058003,BC125051,CR592936,AI249145,AL525867,CB961482,NM_001200050,NM_001200051,NM_001200052,NM_001200056 NP_110396,CAH71702,CAI16502,EAW91132,EAW91133,EAW91134,EAW91135,AAK25795,BAG59549,BAG62675,BAG36036,AAQ82432,AAH58003,AAI25052,Q9BXD5,CAH71703,CAI16503,NP_001186979,NP_001186980,NP_001186981,NP_001186985 Hs.496969 C112|C1orf13|DHDPS1|MGC149582|MGC61869|NAL|NPL1|c112 N-acetylneuraminate lyase|N-acetylneuraminate pyruvate-lyase|N-acetylneuraminic acid aldolase|NALase|OTTHUMP00000033259|OTTHUMP00000033260|dihydrodipicolinate synthase|dihydrodipicolinate synthetase homolog 1|sialate lyase|sialate-pyruvate lyase|sialic acid aldolase|sialic acid lyase protein-coding 735438 NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) 11574150,18586029,17331469,15489334,14702039,12665801,12477932,10819331,10811609,17872946,19615732,20463881,20702414 55666 NM_017921,AC139149,AC139530,CH471099,AB040932,AK000664,AK023046,AK023272,AK074322,AK294473,AK311741,AL133629,AL834300,BC013406,BC025930,DC322260,AC137896 NP_060391,EAW89661,EAW89662,EAW89663,BAA96023,BAA91314,BAB14372,BAB14499,BAG57700,CAD38971,AAH25930,Q8TAT6,ABM86282 Hs.464333 FLJ20657|FLJ23742|KIAA1499|NPL4 homolog of yeast nuclear protein localization 4|nuclear protein localization protein 4 homolog protein-coding 735682 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) NPM1 is a ubiquitously expressed nucleolar protein that shuttles between the nucleus and cytoplasm. It is implicated in multiple functions, including ribosomal protein assembly and transport, control of centrosome duplication, and regulation of the tumor suppressor ARF (MIM 600160). NPM1 mutations that relocalize NPM1 from the nucleus into the cytoplasm are associated with development of acute myeloid leukemia (AML; MIM 601626) (Garzon et al., 2008 [PubMed 18308931]).[supplied by OMIM] 1600902,1600907,1580863 20554525,15087454,12058066,9094689,11602260,12080348,9121481,18809582,10211837,16130169,11051553,16041368,18420587,17475909,19637342,19557552,19540590,19536888,19423729,19379554,19365794,19351769,19309322,19289604,19286999,19279329,19242062,19221506,19188445,19160485,19151774,20872983,21173125,20634376,20858903,20864535,17215513,19887368,20393185,20673208,20713446,20724983,20404347,19131589,20306250,20713529,20855646,20875872,20338617,20606168,20880116,20981679,20027629,20515654,19103589,19066330,19059939,19055671,19052985,19020547,19015314,19005479,18951898,18845790,18729828,18726096,18641025,18639523,18603563,18596743,18590714,18559874,18511415,18478020,18454140,18448670,18371977,18367491,18332108,18316603,18308931,18298902,18273044,18268276,18261272,18259216,18214681,18200037,18192111,18180033,18165222,18081718,18059485,18037965,17998938,17990177,17972951,17968318,17957027,17951246,17943167,17922009,17920239,17879352,17875528,17768124,17715399,17690700,17690253,17639390,17637816,17637812,17616680,17602943,17598835,17597811,17569113,17549383,17546053,17537995,17535915,17504301,17488663,17440048,17410190,17318229,17315018,17306368,17277230,17151698,17147251,17081983,17076533,16926303,16916647,16912078,16870548,16857742,16855788,16835382,16825495,16766651,16725311,16720834,16709933,16679321,16678898,16645213,16574551,16565220,16547420,16541144,16455956,16455950,16415342,16376875,16205118,16170350,16076867,16046528,15994285,15973451,15964625,15872011,15870172,15831697,15772089,15684379,15665273,15659725,15644315,15635413,15589822,15514966,15489334,15456888,15342556,15310764,15190079,15184379,15144954,15082766,14759373,14730621,14656879,14636574,14563642,14559993,14519847,14506644,12882984,12748172,12511551,12477932,12450141,12429849,12374805,12209603,12057857,12031912,11888936,11812799,11790298,11278991,11215285,10503877,9819383,9763551,9642267,9548374,9150948,9150888,9092824,9092633,8778315,8633037,8620867,8570204,8562957,8471164,8224012,8122112,8089149,7826206,7821789,7794916,7628555,7593322,7542384,3944116,2775293,2713355,2602120,2478125,2429957,2404140,2109912,2017166,16354571,18162579,18319061,18954305,18931307,17353931,15944709,20424160,11420665,12039952,14968112,15615785,16376884,16648475,17438371,17877154,18029348,19369962,19410545,19429869,19484332,19522705,19531656,19535344,19569254,19581289,19587375,19638589,19642896,19672946,19679565,19679658,19694479,19710015,19734942,19770764,19775300,19824900,19843866,19865112,19901261,19965647,20001230,20011973,20023256,20026798,20073075,20127469,20145123,20172040,20203266,20212148,20333249,20368538,20439648,20464055,20471513,20494930,20508983,20513120,20520634,20428199,20533335,16522924,16740634,19454010,20352051,20807181,20368469,20546020,20592250,20616361,20651067,20678218,20803351 1600902,1600907 4869 CR608915,CR610343,CR612984,CR618462,CR618961,D28343,DQ303464,EF429251,J02590,M23613,M26697,M28699,M31004,X16934,BC009623,BC012566,BC014349,BC016716,BC016768,BC016824,BC020467,BC021668,BC021983,BC024716,BC050628,BC107754,BP291033,BT007011,BU661768,CR590741,CR594093,CR595866,CR596514,CR597478,CR601970,CR603012,CR604830,CR605572,BC008495,NM_199185,NM_001037738,AC091980,AC093246,CH471062,U89309,AB042278,AB451236,AB451361,AI687394,AK000472,AK290652,AY347529,AY740634,AY740635,AY740636,AY740637,AY740638,AY740639,AY740640,BC002398,BC003670,NM_002520,NG_016018 BAA05709,ABC40399,ABP97432,AAA36473,AAA36380,AAA36385,AAA58386,AAA36474,CAA34809,P06748,Q9BTI9,Q9BYG9,Q9NX34,ABM82958,ABM86149,AAH08495,AAH09623,AAH12566,AAH14349,AAH16716,AAH16768,AAH16824,AAH21668,AAH21983,AAH50628,AAI07755,AAP35657,NP_002511,NP_954654,NP_001032827,EAW61443,EAW61444,EAW61445,EAW61446,EAW61447,EAW61448,EAW61449,AAB94739,BAB40600,BAG70050,BAG70175,BAA91188,BAF83341,AAQ24860,AAW67752,AAW67753,AAW67754,AAW67755,AAW67756,AAW67757,AAW67758,AAH02398,AAH03670 Hs.557550 B23|MGC104254|NPM nucleolar protein NO38|nucleophosmin|nucleophosmin 1|nucleophosmin/nucleoplasmin family, member 1|numatrin protein-coding 1345415 NPM1P1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 1 8471164 4870 NG_001162,AC011712,L15315 NG1-1.6|NPMP1 pseudo 1350397 NPM1P10 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 10 10837 NG_009882,AL021330 pseudo 1353809 NPM1P11 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 11 10836 CH236948,AC004538,NG_022930 pseudo 1345257 NPM1P12 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 12 10835 NG_000887,AC004941 pseudo 1349766 NPM1P13 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 12853948 10834 NG_000886,AC004994,CH236948 pseudo 1351696 NPM1P14 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 12853948 10833 NG_000885,AC005192,CH236947 pseudo 1353642 NPM1P15 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 15 10832 AC005569 1346507 NPM1P16 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 16 10831 NG_009459,AC007068 pseudo 1345083 NPM1P17 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 17 10830 NG_001233,AC007159,AF164688 pseudo 1346879 NPM1P18 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 18 10829 NG_001232,AC007349,AF164689,CH236951 pseudo 1348866 NPM1P19 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 19 10828 NG_001231,AF164690,AL023803 pseudo 1346945 NPM1P2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 2 8471164,2157848 4871 NG_009868,AC016839,X54171 NG2-6|NPMP2 pseudo 1349461 NPM1P20 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 20 326608 NG_002597,AL137779 pseudo 2305457 NPM1P21 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 21 100129237 NG_011601,AC107376 pseudo 1351103 NPM1P3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3 8471164 4872 NG_001163,AC005569,AC074051,L15316 NG2-6|NG3-3|NPM1P15|NPMP3 pseudo 1353129 NPM1P4 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 8471164 100128903 L15317,AL136439,NG_011457 NG4-5|NPMP4 pseudo 1344626 NPM1P5 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 5 8471164 4874 NG_001165,AC116903,L15318 NG5-4|NPMP5 pseudo 1346390 NPM1P6 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 8471164 4875 NG_001166,AC105015,L15319 NG6-4|NPMP6 pseudo 1349973 NPM1P7 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 7 8471164 4876 NG_001167,L15320,AC007068 NG7-6|NPMP7 pseudo 1351779 NPM1P8 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 8 10359 1347718 NPM1P9 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 9 392428 NG_005106,AF164687,U70984 pseudo 737293 NPM2 nucleophosmin/nucleoplasmin 2 1299559 12581654,12714744,14702039,12477932,12209603,19491193,20508983 1299559 10361 NM_182795,AC091171,CH471080,AK094267,AY262113,AY262114,BC068078,CR603169 NP_877724,EAW63730,EAW63731,EAW63732,BAG52852,AAP33134,AAP33135,AAH68078,Q6NVH6,Q86SE8 Hs.131055 MGC78655 OTTHUMP00000161773|nucleoplasmin-2 protein-coding 1349032 NPM3 nucleophosmin/nucleoplasmin 3 The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq] 1580863 17081983,16341674,15635413,15489334,12477932,11790298,11722795,10736259,9177783,16169070,17207965,19710011,20073534 10360 NM_006993,AC010789,AF079325,CH471066,AF081280,AY049737,BC041067,BC054868,BM739536,BM765409,CR601718,CR603429,CR621461 NP_008924,AAD51496,EAW49745,AAC31609,AAL12172,AAH41067,AAH54868,O75607,ADQ32115 Hs.90691 PORMIN|TMEM123 nucleophosmin/nucleoplasmin family, member 3|nucleoplasmin-3 protein-coding 1604498 NPNT nephronectin 11470814,15754038,12975309,11470831,8889548,12477932,19844573,20010835,20332099 255743 NM_001033047,AC093782,AC109361,CH471057,AK172856,AK290029,AK295772,AK302477,AK304279,AK304721,AL832465,AW607534,AY358336,BC131587,BM970581,CD109759,NM_001184690,NM_001184691,NM_001184692,NM_001184693 NP_001028219,EAX06194,EAX06195,EAX06196,EAX06197,BAF82718,BAG58596,BAG63765,BAG65139,BAG65484,AAQ88702,Q6UXI9,AAI66654,NP_001171619,NP_001171620,NP_001171621,NP_001171622 Hs.518921 EGFL6L|POEM OTTHUMP00000219849|OTTHUMP00000219850|OTTHUMP00000219852|OTTHUMP00000219903|nephronectin|preosteoblast EGF-like repeat protein with MAM domain|protein EGFL6-like protein-coding 730878 NPPA natriuretic peptide precursor A 1580137,1626244,1626242,2313586,2313590,2313592,2313589,2313591,2313593,1580773,1579982,1580863,1578335,1580001,731210 6542248,18614783,18539145,18513389,18294255,18280250,18243818,18212314,18172431,18092954,17984371,17943627,17927564,17901852,17900714,17890485,17890443,17702963,17693975,17672826,17584735,17580193,17525707,17460430,17292492,17259761,17243909,17219958,17051589,17036337,16962475,16875975,16870210,16721833,16713569,16710414,16368448,16291573,16117728,16113566,16100725,15837528,15666592,15648549,15489334,15118286,15111511,15033935,15017020,14698679,14523183,12960255,12890912,12883099,12794112,12777209,12687344,12547834,12514664,12505872,12484513,12477932,12270761,12193960,12190955,12145475,12135603,12102171,12082592,12052474,11985060,11884416,11706124,11447495,11409652,11408388,10880574,9232196,8043577,7857923,6230082,6547996,14718574,19666519,19559392,19479237,19420105,19387964,19346663,19330901,19326473,19264973,19263529,19238444,19219041,19146799,19141362,19131662,19086053,19046820,19008326,18989245,18855222,18759454,18713751,18660489,18633189,20877298,19155075,20024606,6203042,6097248,6095119,6095118,3158606,2972276,2934979,2531377,2169733,1826098,1309330,12542678,15542826,6238331,15604093,1660465,1672777,19430483,19458086,19564455,19578796,19597492,19635983,19646991,19671135,19702001,19729120,19729601,19845278,19948975,20026756,20064500,20137368,20346360,20407391,20416077,20452482,20543198,20368210,21073007,19913121,20536507,20577119,20628086,20673868,20453667,20700369 1580137,1626244,1626242,2313586,2313590,2313592,2313589,2313591,2313593,1580773,1579982,1578335,1580001,731210 4878 AL021155,CH471130,EU326308,K02043,K02399,M54947,X01470,X01471,AA779538,BC005893,K02044,M30262,NM_006172,NG_012926 ABM87388,ABW03581,NP_006163,CAA15955,CAI23398,EAW71717,ACA05916,AAB59379,AAA35528,AAA35529,CAA25699,CAA25700,AAH05893,AAA51730,AAA35669,P01160,ABM84041 Hs.75640 ANF|ANP|ATFB6|CDD-ANF|PND atrial natriuretic factor|atriopeptin|cardionatrin|natriuretic peptide precursor A|prepronatriodilatin protein-coding 2946882 NPPAAS NPPA antisense RNA (non-protein coding) 19671135 100379251 BQ776822,CA773133 Hs.710015 NPPA-AS|NPPAAS miscrna 69139 NPPB natriuretic peptide precursor B This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq] 1580138,1580139,1580143,1626243,1642202,1642205,1642206,1642191,1642194,1642195,1642192,1642199,1642203,1642265,1642266,1642294,1580863,1580140,70484,2324684,2293330,2324680 18054808,20187770,20234137,20470220,20505308,20507952,20562693,20581772,19809305,19386989,8890728,19845751,20350538,8837222,7901875,2597152,2522777,2138890,2136732,1309330,19155075,20709045,20727348,20947817,21214096,19329198,19356808,20519808,21086902,20140438,19844734,20038279,20364046,20368210,20536328,20370326,20378998,14960748,12727915,14737067,7601467,19546389,19424098,19413180,19387960,19387249,18256871,18255169,18252905,18243818,18219371,18194671,18191909,18177956,18163013,18160811,18077013,18055041,18049439,18037753,18037739,18037101,17996240,17972161,17959862,17943627,17901852,17900714,17891611,17881654,17879024,17855407,17822384,17785934,17721754,17719005,17690842,17669797,17662495,17643631,17607502,17607499,17567649,17554401,17519779,17517347,17490778,17482153,17478552,17412758,17381357,17365940,17343213,17340039,17323015,17289171,17186137,17175893,17149558,17112494,17099013,17097992,17086116,16962477,16962475,18258801,16940194,19377085,19359532,19356514,19356487,19339274,19327608,19327104,19326473,19322079,19299763,19298805,19293713,19263527,19262210,19237086,19221295,19219041,19214022,19210529,19194564,19172697,19168558,19130415,19127569,19103499,19086053,19032759,19008326,18971785,18971552,18971547,18957868,18948614,18923244,18855222,18824845,18823968,18816264,18794210,18789145,18786480,18762474,18729306,18728335,18721456,18712036,18706401,18701924,18660489,18654020,18649054,18632852,18609050,18609042,18573197,18562472,18537757,18528966,18513528,18513509,18484161,18450924,18443568,18440296,18418236,18394456,18394002,18388105,18378336,18375252,18374882,18362234,18353850,18353715,18347270,18335382,18328262,18326895,18322550,18319268,18309461,18298592,16937127,16875975,16870210,16831981,16829184,16801175,16754798,16733598,16733597,16722030,16716660,16710414,16697117,16648193,16644347,16624649,16600203,16594987,16546444,16495466,16446217,16386619,16377932,16338268,16338263,16338262,16338261,16338248,16298451,16293687,16236931,16236924,16236896,16203929,16189514,16185779,16179421,16117728,16061439,16037399,15947264,15911064,15875778,15735222,15732251,15689309,15686715,15644628,15619076,15616804,15604421,15525883,15489334,15277419,15118286,14967157,14726474,14645255,12890912,12861161,12832317,12771003,12742987,12612980,12601551,12477932,12084525,12015190,11999635,11750283,11120697,9832489,20492497,20636229,20700369,19944367,20470299,20539839,20539843,20173383,20713912,19247872,19929142,20102554,20576043,20576050,20660094,20883932,1660465,1672777,17899307,18495276,18602177,18632168,18649955,18703243,18759301,18774614,18835219,19077418,19116708,19157978,19166616,19183435,19189316,19194108,19275472,19359811,19391062,19398076,19407818,19430483,19444135,19455566,19487972,19494782,19497572,19505208,19523464,19542490,19560452,19581836,19584071,19606057,19615861,19615987,19635983,19638709,19642911,19643359,19653574,19662018,19667278,19670155,19685518,19690080,19708225,19719987,19719993,19729800,19740358,19755761,19808368,19815210,19816874,19838110,19843778,19860001,19919978,19920165,19929271,19932518,19945451,19968983,20023254,20024643,20051875,20083731,20087954,20113292,20142114,20216395,20228511,20346360,20407391,19830720,20690091,20553977,20575653,20812386,19157602,19492165,19913121,20142019,20142024,20142028,20441480,20506274,20628086 1580138,1580139,1580143,1626243,1642202,1642205,1642206,1642191,1642194,1642195,1642192,1642199,1642203,1642265,1642266,1642294,1580140,70484,2324684,2293330,2324680 4879 NM_002521,AB037521,AL021155,CH471130,EU326309,M31776,AJ708502,BC025785,CR541976,CR542003,M25296 NP_002512,BAA90441,CAA15956,EAW71718,EAW71719,ACA05917,AAA35603,AAH25785,CAG46774,CAG46800,AAA36355,P16860,Q9P2Q7 Hs.219140 BNP brain type natriuretic peptide|gamma-brain natriuretic peptide|natriuretic peptide precursor B|natriuretic peptides B|natriuretic protein protein-coding 1351265 NPPC natriuretic peptide precursor C Natriuretic peptides comprise a family of 3 structurally related molecules: atrial natriuretic peptide (ANP; MIM 108780), brain natriuretic peptide (BNP; MIM 600295), and C-type natriuretic peptide, CNP, encoded by a gene symbolized NPPC. These peptides possess potent natriuretic, diuretic, and vasodilating activities and are implicated in body fluid homeostasis and blood pressure control.[supplied by OMIM] 1580150,1580770,1642294,1642268,1642292,1642297,1642267,1642296,1580149,1601488,1580863 17487764,12736257,12709393,12477932,12452325,12379507,12167597,11533490,9232196,9155593,8743538,8674895,8353861,8330189,7698765,2018508,1855454,1472040,1339402,1309330,20966902,20700369,19570815,19326473,19293575,19161538,19086053,19008326,18391951,18391643,18280250,17951249,17709640,17289171,16777970,16179391,16109786,16006435,15911070,15815621,15598085,15489334,15231517,14654233,20797397,20551602,20553977,20721606,20802130,20881960,19913121,20628086,1660465,1672777,19620509,20090473,20398908 1580150,1580770,1642294,1642268,1642292,1642297,1642267,1642296,1580149,1601488 4880 NM_024409,AC013435,CH471063,D28874,D90337,M64710,BC069120,BC105065,BC105067,CS788277 NP_077720,AAX88912,EAW70984,BAA22154,BAA14351,AAA35703,AAH69120,AAI05066,AAI05068,P23582,CAP12670 Hs.247916 CNP C-type natriuretic peptide|OTTHUMP00000203815|natriuretic peptide precursor C protein-coding 732882 NPR1 natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM] 1580154,1580174,1580175,1580176,1626243,1300048,1580863,737701,628585 12477932,12547834,14737067,14960748,12727915,7601467,19326473,19165164,19126660,19086053,18713751,18436476,18383440,18360023,18306933,17672826,17460430,16986166,16875975,16778132,16710414,16262696,15911610,15911069,15911067,15489334,15459247,14646971,12872042,12855709,12794112,12506509,12483301,20977274,12135318,12121994,11952097,11851379,11704663,9618281,9528788,9405681,8786123,7982997,7954658,7901875,7857923,2569967,1979052,1309330,10581150,20024606,15231748,1660465,1672777,19458086,19563399,19679847,20452482,20529973,20673868,20700369 1580174,1580175,1580176,1626243,737701,628585 4881 NM_000906,AB010491,AB046472,AF190631,AL713889,CH471121,EU326310,AK025024,AK298090,AK300446,BC063304,S72628,X15357 NP_000897,BAA31199,BAC53955,AAF01340,CAI13613,CAI13614,EAW53284,ACA05918,ACA05919,BAH12723,BAG62168,AAH63304,AAD14112,CAA33417,P16066,Q8IXF8 Hs.490330 ANPRA|ANPa|GUC2A|GUCY2A|NPRA ANP-A|ANPR-A|GC-A|NPR-A|atrial natriuretic peptide receptor 1|atrial natriuretic peptide receptor type A|atrionatriuretic peptide receptor A|guanylate cyclase A|natriuretic peptide A type receptor|natriuretic peptide receptor 1|natriuretic peptide receptor A protein-coding 733765 NPR2 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq] 1580771,1580772,1300048,1580863,1601488 20123316,20079378,1327579,10082481,19413180,19326473,19167912,19086053,18945719,17652215,17429599,15911610,15911070,15722353,15489334,15459247,15371450,15262909,15164053,15146390,14988324,14759258,12709393,12477932,12022755,11556325,11464256,11208455,10073597,9634515,9624142,8765168,7679284,2570358,1979052,1309330,20977274,20664698,20700369,19913121,20628086,1660465,1672777,19458086 1580771,1580772,1601488 4882 NM_003995,NG_009249,AB005647,AL133410,CH471071,EU326311,AJ005282,BC023017,BQ446138,L13436 NP_003986,BAA81737,CAI10987,EAW58337,EAW58338,EAW58339,EAW58340,ACA05920,ACA05921,ACA05922,CAA06466,AAH23017,P20594,AAI66642 Hs.78518 AMDM|ANPRB|ANPb|GUC2B|GUCY2B|NPRB|NPRBi ANP-B|ANPR-B|GC-B|NPR-B|atrial natriuretic peptide B-type receptor|atrial natriuretic peptide receptor 2|atrial natriuretic peptide receptor type B|guanylate cyclase B|natriuretic peptide receptor 2 protein-coding 731641 NPR3 natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) The family of natriuretic peptides (see MIM 108780) elicit a number of vascular, renal, and endocrine effects that are important in the maintenance of blood pressure and extracellular fluid volume. These effects are mediated by specific binding of the peptides to cell surface receptors in the vasculature, kidney, adrenal, and brain.[supplied by OMIM] 1581459,1580774,1580149,1580773,737701,1580863,1580175 8620881,10468599,19326473,19086053,18633189,17951249,17890443,17081983,16870210,15911072,15911071,15785005,15459247,15017020,12872042,12768436,11556325,11533490,7996793,7901875,7727388,2169733,2162522,1979052,1309330,20700369,12477932,1660465,19343178,19352691,19458086,19570815,20379614,20398908,19913121,20546612,20628086 1581459,1580774,1580149,1580773,737701,1580175 4883 NM_000908,AB101582,AC008766,AC026703,CH471118,AF025998,AI335695,AK290870,AK300094,AK308301,BC131540,BF224187,BQ014050,M59305,X52282 NP_000899,BAC56126,EAX10797,EAX10798,EAX10799,AAB88801,BAF83559,BAG61896,AAI31541,AAA51734,CAA36523,P17342,Q60I31 Hs.237028,Hs.619466 ANPRC|GUCY2B|NPRC ANP-C|ANPR-C|NPR-C|OTTHUMP00000197048|OTTHUMP00000220980|atrial natriuretic peptide clearance receptor|atrial natriuretic peptide receptor 3|atrial natriuretic peptide receptor type C|natriuretic peptide receptor 3 protein-coding 2291750 NPS neuropeptide S 20705147,12036966,19824051,19240061,16926187,16790440,16720571,16574794,16282594,16279934,15312648,18376418,18181564,15947423,20405330 594857 NM_001030013,AL355316,BD168686 NP_001025184,P0C0P6,AAI48466,AAI56666 Hs.643423 neuropeptide S protein-coding 1347629 NPSR1 neuropeptide S receptor 1 This gene is a member of the G protein-coupled receptor 1 family and encodes a plasma membrane protein. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Mutations in this gene have also been associated with this disease. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq]Also present in gastrointestinal enteroendocrine cells, and CNS, and is involved in inflammation, anxiety and nociception. 4891930,4891932,4891921,4891922,4891923,4891931 12036966,17703412,17702965,17669576,17285544,17210045,16938805,16926187,16829631,16790440,16522461,16098057,15990798,15947423,15941840,15777626,15764725,15741670,15710598,15312648,15073379,14757815,14702039,12690205,12679517,12477932,19824051,19325992,19264973,19258923,19247692,18588753,18340359,18305139,18285428,17854592,18029348,19614867,19624525,19732772,19874863,19951440,19996348,20179762,20379614,20503287,19913121,20603625,20628086,20628342,20705147,20701904 4891930,4891932,4891921,4891922,4891923,4891931 387129 NM_207172,NG_012185,AACC02000103,AC004788,AC005174,AC005492,AC005493,AC005680,AC005853,AC005862,CH471073,DQ272236,AK124929,AK172847,AY255536,AY310326,AY310327,AY310328,AY310329,AY310330,AY310331,AY310332,AY956446,AY956447,NM_207173,AY956448,BC132693,BC132695,BC144380 NP_997056,NP_997055,EAL24469,EAL24470,EAW94034,EAW94035,EAW94036,EAW94037,ABB72550,BAD18811,AAO85048,AAQ76966,AAQ76967,AAQ76968,AAQ76969,AAQ76970,AAQ76971,AAQ76972,AAX63744,AAX63745,AAX63746,AAI32694,AAI32696,AAI44381,Q6W5P4,Q86SP4,ADR82967 Hs.652373 ASRT2|GPR154|GPRA|NPSR|PGR14|VRR1 G protein-coupled receptor 154|G protein-coupled receptor for asthma susceptibility|G-protein coupled receptor 154|G-protein coupled receptor PGR14|G-protein coupled receptor for asthma susceptibility|neuropeptide S receptor|vasopressin receptor-related receptor 1 protein-coding 733531 NPTN neuroplastin This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 17196182,17123723,15489334,15340161,15146197,12477932,9110174,8995369,8619474 27020 NM_017455,NM_012428,NM_001161363,NM_001161364,AC022735,CH471082,AB209812,AF035287,AF109126,AF109127,AI357728,AK129908,AK297184,AK304478,AK313441,AK314248,AL117411,BC030773,BC067828,BC105979,BC117462,BC143880,BC143881,CN357076,CR604231,CR615149,CR615564,CR936779 NP_059429,NP_036560,NP_001154835,NP_001154836,EAW77930,EAW77931,EAW77932,BAD93049,AAB88179,AAD43217,AAD43218,BAH12519,BAH14196,BAG36914,CAB55909,AAI05980,AAI17463,AAI43881,AAI43882,Q9UFM8,Q9Y499,Q9Y639,ADR82893 Hs.713221 DKFZp686L2477|GP55|GP65|MGC102805|SDFR1|SDR1|np55|np65 SDR-1|neuroplastin|stromal cell derived factor receptor 1|stromal cell-derived receptor 1 protein-coding 1321571 NPTX1 neuronal pentraxin I NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq] 1580863 8884281,17151277,16344560,16115696,15489334,14702039,12477932,10748068,11239433 4884 FB749994,NM_002522,AC120024,CH471099,AI124625,AK124701,AK127335,AL119012,BC089441,BX537550,CK005561,U61849 CAT02176,NP_002513,EAW89617,BAG54073,BAG54485,AAH89441,AAC50727,Q15818,ACE87289,ACE86608 Hs.514556,Hs.719680 DKFZp686J2446|MGC105123|NP1 NP-I|neuronal pentraxin-1 protein-coding 1319794 NPTX2 neuronal pentraxin II This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq] 1580863 19667215,8530029,19058789,17987278,17895837,17408830,16115696,15489334,12853948,12690205,12477932,10748068,9261167 4885 NM_002523,NG_009905,AC074121,AC092688,CH236956,CH471091,U29195,AK311250,BC009924,BC034781,BC035339,BC048275,BI561105,U26662 NP_002514,AAQ93363,EAL23889,EAW76705,AAA68980,AAH09924,AAH34781,AAH35339,AAH48275,AAA92296,P47972,ABM83978,ABM87299 Hs.3281 NARP|NP-II|NP2 apexin|neuronal activity-regulated pentaxin|neuronal pentraxin-2 protein-coding 1607068 NPTXR neuronal pentraxin receptor This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq] 1642301,1642302 10591208,18029348,19368810,16497176,16115696,12477932,10748068,9261167,9110174,8619474,20379614 1642301,1642302 23467 NM_014293,AL008583,CH471095,AF052163,AL161974,AL162057,BC043606 NP_055108,CAA15430,EAW60273,EAW60274,EAW60275,O95502,AAI48602,AAI53028 Hs.91622 NPR neuronal pentraxin receptor protein-coding 1350677 NPVF neuropeptide VF precursor 17474147,11025660,12853948,12690205,11951088,11481330,11173868,8889548,20027225 64111 NM_022150,AC004129,AF440393,AF440394,AF440395,CH236948,CH471073,AB040290,AF330057,AF440392,BM714303 NP_071433,AAP22339,AAL90458,EAL24237,EAW93830,BAB17674,AAK94201,AAL90453,Q9HCQ7,AAI60068 Hs.60473 C7orf9|RFRP FMRFamide-related peptides|RFamide-related peptide|chromosome 7 open reading frame 9|neuropeptide NPVF protein-coding 1605830 NPW neuropeptide W The product of this gene is processed into 23- and 30-amino acid neuropeptides that bind and activate two G-protein coupled receptors in the central nervous system. The neuropeptides have been shown to enhance cortisol secretion from adrenal cells through the adenylate cyclase/protein kinase A signaling cascade. The preproprotein is translated using a non-AUG initiation codon that is inferred from analyses of the mouse ortholog. [provided by RefSeq] 18240029,12401809,12959997,16847439,16394174,16273281,15797961,12719537,12477932,12130646,12118011,8889548,18577758,2834384 283869 NM_001099456,AC005606,AC093513,AB084276,AL365519,AL365521,BC150534,BM985063,CK817957 NP_001092926,BAC07172,AAI50535,Q8N729,AAI60149 Hs.233533 L8|L8C|PPL8|PPNPW hPPL8|neuropeptide W|preproprotein L8 protein-coding 730830 NPY neuropeptide Y 1580177,1580179,1580182,1580183,1580184,1580178,1357412,1358535,1580863,1357410 10557353,9001438,20675276,20138117,20648632,20164781,1321422,8132547,2427515,10488139,8421707,15894681,15850450,15847953,15797951,15759545,15736042,15680469,15625769,15597110,15489334,15485137,15364898,15336593,15201542,15165988,15126561,14751436,14747236,14628185,12932169,12878188,12875921,12853948,12843176,12818415,12782203,12759898,12690205,12689610,12663466,12646110,12609745,12544000,12479530,12477932,12454738,12215082,12209475,12187924,12187394,12106685,12081635,12034130,12015205,12007534,11932939,11914038,11884208,11814620,11696660,11689216,11422604,11410744,11325787,11278902,11196643,10770181,10698177,10561544,9845072,9008359,2444979,19619519,19587357,19491387,19423065,19404163,19367093,19309436,19289742,19264362,19245788,19240061,19150389,19119412,19086053,19058789,19056482,18996102,18974842,18828811,18815063,18715275,18641693,18636124,18499283,18461271,18423883,18420205,18385673,18279562,18257117,18241322,18211417,18055304,18054939,18043699,18037100,18031993,17984244,17948870,17702963,17695723,17554476,17525122,17516289,17366345,17325259,17305733,17268419,17187020,17154253,17066479,16912140,16785149,16568137,16500360,16459651,16390370,16383010,16383009,16383001,16383000,16382999,16382997,16339211,16136022,16135994,15959845,15926114,15897713,7782078,7559383,6589611,3839058,3753985,1425680,20734064,21041608,21047193,20676138,18577758,20823688,19913121,20554694,20602615,20628086,20673868,20691708,19566775,19620246,19699258,19804960,19846279,19854625,19865784,19874574,19913525,19942238,20033074,20037921,20173430,20180986,20308990,20351714,20435026,20452482,20453000,20459474,20468064,20531438,20543711,7493937 1580177,1580179,1580182,1580183,1580184,1580178,1357412,1358535,1357410 4852 NM_000905,AC004485,CH236948,CH471073,M14295,M14296,M14297,M14298,AK312156,BC029497,K01911,M15789,AI198311,NG_016148 NP_000896,AAQ96843,EAL24248,EAW93807,AAA59945,BAG35090,AAH29497,AAA59944,AAA59946,P01303,ABM84261,ABM87650 Hs.1832 PYY4 OTTHUMP00000201946|OTTHUMP00000201947|neuropeptide Y 1643507,2289312,2289453 BW292_H,BW391_H,BW297_H protein-coding 1347163 NPY1R neuropeptide Y receptor Y1 Neuropeptide Y (NPY; MIM 162640) is one of the most abundant neuropeptides in the mammalian nervous system and exhibits a diverse range of important physiologic activities, including effects on psychomotor activity, food intake, regulation of central endocrine secretion, and potent vasoactive effects on the cardiovascular system. Two major subtypes of NPY (Y1 and Y2) have been defined by pharmacologic criteria. NPY receptors, such as NPY1R, have been identified in a variety of tissues, including brain, spleen, small intestine, kidney, testis, placenta, and aortic smooth muscle (Herzog et al., 1992 [PubMed 1321422]).[supplied by OMIM] 1357410,1642322,1642324,1642306,1642307,1642319,1642311,1642320,1642609,1580863 18577758,20471432,15231747,1317848,1321422,19077438,19058789,18828811,18812316,18698022,17948870,17325259,17140570,16891622,16339211,15623622,15597110,15489334,15302312,12665544,12477932,12220433,12209475,12203398,12084524,12007534,11906964,11814622,11741903,9001438,8095935,7559383,2834384,16344560,19913121,20532202,20628086,20797317,19481128,19506390,19566775,19593212,19699258,19712806,19759915,19874574,20468064 1357410,1642322,1642324,1642306,1642307,1642319,1642311,1642320,1642609 4886 HC025806,A26126,AC079238,CH471056,X99269,AB209237,AK296624,AK298282,AK312578,AY548168,BC036657,BC071720,L07614,L07615,NM_000909,M84755,M88461,A26481,DA531980 CBH19834,NP_000900,CAA01787,EAX04841,BAD92474,BAG59231,BAG60542,BAG35472,AAS55647,AAH36657,AAH71720,AAA59947,AAA59920,AAA73215,P25929,Q59G72,CAA01819,ABM82191,ABM85379 Hs.519057 NPYR NPY1-R|OTTHUMP00000220115|neuropeptide Y receptor type 1 1643249,2289563 BW135_H,BW441_H protein-coding 1348310 NPY2R neuropeptide Y receptor Y2 1642609,1642379,1642381,1580863,1580787 9001438,20421142,18577758,20471432,8132547,1321422,7559383,9692752,7592910,19086053,19058789,18828811,18700141,18622237,18569526,17992642,17948870,17325259,17235527,17019604,16891622,16331299,15855352,15623622,15489334,15331560,12813010,12477932,12084524,12007534,11906964,11408607,9651375,8975716,8643460,8632753,18029348,19481128,19593212,19759915,19874574,19953226,19957593,20359722,20468064,20676138,20543711,19913121,20628086,20642810,20811389,2834384 1642609,1642379,1642381,1580787 4887 NM_000910,AC104407,AY236540,CH471056,U50146,U76254,BC075052,BC075053,U32500,U36269,U42389,U42766 NP_000901,AAY40940,AAO92062,EAX04901,AAC51115,AAD00248,AAH75052,AAH75053,AAA93170,AAC50281,AAB07760,AAB04120,P49146 Hs.37125 NPY-Y2 receptor|NPY2-R|OTTHUMP00000220314|Y2 receptor|neuropeptide Y receptor type 2 1643249,1643467,2289563 BW135_H,BW100_H,BW441_H protein-coding 731586 NPY5R neuropeptide Y receptor Y5 1625493,1625496,729324,1625494,1625501,1625503,1580863,1625506,1331525,1625492 20332211,8824284,19086053,19077438,19058789,18828811,17948870,17426313,17325259,16891622,15601626,15302312,12665544,12477932,12398768,12220433,12007534,10575027,9417917,9169127,8700207,18577758,20602615,20797317,2834384,19481128,19593212,19759915,19874574,20468064 1625493,1625496,729324,1625494,1625501,1625503,1625506,1331525,1625492 4889 NM_006174,AC079238,AY322538,CH471056,BC034224,BC042416,U56079,U66275,U94320 NP_006165,AAP84351,EAX04839,EAX04840,AAH42416,AAC50623,AAC50741,AAC51295,Q15761 Hs.519058,Hs.598503 NPYR5 NPY-Y5 receptor|NPY5-R|NPYY5-R|OTTHUMP00000220088|OTTHUMP00000220089|Y5 receptor|neuropeptide Y receptor type 5 1643249,2289563 BW135_H,BW441_H protein-coding 1345559 NPY6R neuropeptide Y receptor Y6 (pseudogene) 1580863 8910373,11027673,9013614,8910290 4888 NR_002713,AC106791,CH471062,D86519,U59431,U67780,AK297855,AK299427,DC357138 EAW62180,BAA13103,Q99463,AAB19187,BAG60187,BAG61407,EAW62181 Hs.643466 FLJ52676|FLJ53561|NPY1RL|PP2|Y2B pseudo 735868 NQO1 NAD(P)H dehydrogenase, quinone 1 This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863,1300048,2301044,727509 20480521,20701904,20819778,20824655,20851451,20878130,20935060,20951227,20966810,21041608,21073132,16598069,16595077,16532285,16520888,16413497,16385446,16369108,16343742,16341674,16321221,16297214,16284498,16266898,16235998,16235982,16172237,16170238,16157195,16079101,16054862,16039674,16038261,16006997,16003741,15938845,15838728,15829318,15808404,15781212,15767364,15763338,15749015,15748501,15747169,15746160,15734732,15731166,15727169,15714076,15694256,15661231,15640066,15618957,15590400,15498787,15489334,15466980,15385560,15382274,15370874,15365958,15355699,15352038,15334552,15312971,15298951,15280903,15279067,15226677,15219943,15196853,15184245,15151706,15138483,15116053,15111988,15079792,15061915,15028279,14985350,14729580,14720419,14716779,14694720,14688016,14675732,14669229,14634838,14634213,14592434,14568289,14506737,13130177,12960511,12867492,12854127,12834817,12777965,12771035,12718704,12718576,12713578,12711112,12694753,12529318,12480594,12477932,12468438,12460800,10393963,9579781,2843525,19494791,19415745,19382518,19360290,19339270,19336370,19330589,19251446,19229058,19214744,19179423,19174490,19162321,19151739,19138946,19096102,19074885,19059883,19027952,19027876,19017358,19012698,19012493,18992148,18986377,18981090,18977034,18950733,18945694,18936436,18836923,18820947,18813798,18798003,18784359,18720901,18676680,18676018,18636124,18632753,18601742,18587252,18569591,18511948,18510611,18457324,18444911,18444152,18416817,18413200,18407955,18404535,18393254,18388957,18253865,18225579,18218609,18214807,18203021,18156703,18098117,18091324,18074351,18061941,18061666,18034618,18024413,17901563,17885617,17869325,17726138,17669387,17652311,17644186,17619904,17603928,17581325,17575500,17541156,17507624,17496311,17476281,17469025,17449559,17428572,17424838,17405841,17400324,17395013,17378176,17372252,17367411,17363580,17337051,17332311,17332305,17188257,17179690,17178637,17166422,17164365,17119198,17118447,17113562,17082176,17027152,17011189,16985026,16978807,16818284,16775388,16702380,16620556,16610002,12439220,12419832,12417987,12397416,12393620,12393447,12383707,12370194,12232053,12172217,12171760,12171070,12164325,12163326,12037698,12036913,12018106,11967624,11956078,11948402,11943609,11895912,11894133,11888914,11840286,11821413,11810042,11774269,11773862,11766168,11722480,11701227,11688992,11679176,11551408,11520401,11319169,11219774,11051261,10706635,10543876,20599494,21117316,18029348,19170196,19362588,19456854,19549356,19591959,19593802,19596483,19625176,19628038,19651439,19652895,19657853,19661089,19671875,19688691,19692168,19705749,19715479,19736056,19759547,19778569,19789190,19808663,19822020,19899130,19952119,20026093,20027111,20028737,20049130,20049212,20056632,20085630,20091863,20100551,20110814,20193673,20194081,20198579,20200430,20204281,20214802,20331656,20371868,20373852,20375710,20437850,20453000,20461808,20480816,20511665,20526719,20526805,20962519,20391128,20226854,10487530,9373149,9230185,8125298,2071140,1737339,1657151,1340765,10447260,19913121,20534171,20568895,20593958,20628086,20634891,20663217,20613985 2301044,727509 1728 NM_001025433,NM_000903,NG_011504,AC092115,AY281093,CH471092,M81600,AK223050,AK297125,AK297979,AK298896,AK307533,AK309513,AK312368,AK316246,AV729122,BC000906,BC007659,NM_001025434,BE903613,BM052991,BM452267,BM787983,BM828301,CD014005,CR623236,J03934,BC107739,HH961748,HI573928,HI573930,HI573932 NP_001020605,NP_001020604,NP_000894,AAP20940,EAW83282,EAW83283,EAW83284,AAB60701,BAD96770,BAG59630,BAG60289,BAG61007,BAG35286,BAH14617,AAH07659,AAA59940,P15559,Q3B792,Q53G81,ABM83818,ABM87138,AAI07740,CBX47453,CBX47454,CBX47455,CBX51347 Hs.406515 DHQU|DIA4|DTD|NMOR1|NMORI|QR1 DT-diaphorase|NAD(P)H dehydrogenase [quinone] 1|NAD(P)H:Quinone acceptor oxidoreductase type 1|NAD(P)H:menadione oxidoreductase 1|NAD(P)H:quinone oxidoreductase 1|NAD(P)H:quinone oxireductase|azoreductase|diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|diaphorase-4|dioxin-inducible 1|menadione reductase|phylloquinone reductase|quinone reductase 1 protein-coding 1351629 NQO2 NAD(P)H dehydrogenase, quinone 2 1580863 18029348,20966810,1691923,19351655,19350405,19343046,18826489,18579530,18538895,18502195,18336668,18314446,18254726,17332305,16545679,16191666,16189514,16129418,16025450,15993843,15694256,15489334,15451063,15350128,15078100,14702039,14639047,14617031,12960511,12477932,11809856,11688992,11051261,10471077,10433694,9367528,9050836,8182056,17545619,19495956,19671875,20050988,20379614,2843525 4835 NM_000904,AB050248,AL133351,AY299456,AY855291,CH471087,AK056981,AK311746,BC006096,BI670476,CR600371,J02888 NP_000895,BAB16974,CAI23293,CAI23294,CAI23295,CAM28342,AAB60642,AAW29945,EAW55107,EAW55108,EAW55109,EAW55110,EAW55111,BAG51838,BAG34689,AAH06096,AAA60239,P16083,Q5TD05 Hs.533050 DHQV|DIA6|NMOR2|QR2 NAD(P)H menadione oxidoreductase 2, dioxin-inducible|NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2|NRH dehydrogenase [quinone] 2|NRH:quinone oxidoreductase 2|OTTHUMP00000015949|OTTHUMP00000015950|OTTHUMP00000015951|OTTHUMP00000163078|quinone reductase 2|ribosyldihydronicotinamide dehydrogenase|ribosyldihydronicotinamide dehydrogenase [quinone] protein-coding 1350844 NR0B1 nuclear receptor subfamily 0, group B, member 1 This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq] 1580863 15084237,9384387,10848616,7990953,15100213,16709599,11875111,15464421,19384854,19237537,19199243,19188450,19129717,19015525,18984668,18941128,18827407,18824868,18819054,18591936,18417736,18381063,18202527,18038713,17646707,17573657,17308433,17114343,16834661,16713569,16684822,16645015,16275267,16232195,16206264,16146703,15988384,15879363,15841486,15800903,15589120,15489334,15379426,19508677,9360549,9063431,9003500,8855822,8675564,8636263,8593542,7990958,7951319,7677767,6891556,1505987,1301166,9415399,15044589,12843196,12771131,12727988,12636049,12629128,12519885,12482977,12477932,12213901,12213854,12083815,12034880,11788621,11748852,11738790,11713202,11549627,11459805,11443184,11113848,11053406,10713076,10675358,10599709,10522996,10412368,10361383,10341858,10323730,9529340,9486644,14963109,15604093,17686645,19644015,19651776,19672728,19726747,19773398,19920188,20080977,20573681 190 NM_000475,NG_009814,AC005185,AC005926,CH471074,S79548,U31929,AW612655,BC011564,BI772108,S74720 NP_000466,EAW99051,AAD14311,AAC13875,AAH11564,AAB32751,P51843,Q16392 Hs.268490 AHC|AHCH|AHX|DAX-1|DAX1|DSS|GTD|HHG|NROB1 DSS-AHC critical region on the X chromosome protein 1|nuclear hormone receptor|nuclear receptor DAX-1|nuclear receptor subfamily 0 group B member 1 protein-coding 732873 NR0B2 nuclear receptor subfamily 0, group B, member 2 The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq] 2311606,2311604,1600912,1580863 15459958,15317749,15358835,15314177,15292277,15269224,15202934,15123650,14762685,14752053,14672953,14627819,14593077,12842887,12716767,12716764,12477932,12324453,12198243,12181644,11890664,11861507,11735420,11705994,11696534,11668176,11136233,10648597,10594021,9773978,9603951,8650544,15707893,18781616,18775915,18660489,18657049,18459945,18385139,18325392,18307978,18276794,18234786,17910058,17646707,17522048,17289919,17145766,17094771,17074765,16825495,16762922,16710414,16344560,16282330,16123152,15973435,15723037,15489334,20516075,17686645,16709599,11030331,19491387,19366697,19322021,18842595,17210713,17071613,20211142,20734064,14963109,15604093,16488887,17909097,19372104,19509248,19641626,19720831,19793803,19793822,20175750,20233523,20346360 2311606,2311604,1600912 8431 NM_021969,NG_012143,AB058644,AF044316,AL356390,CH471059,L76571,AA872285,AI457167,AK310048,BC030207,DA930064 NP_068804,BAB68530,CAI13562,EAX07781,AAC41998,AAH30207,Q15466 Hs.427055 FLJ17090|SHP|SHP1 nuclear receptor subfamily 0 group B member 2|orphan nuclear receptor SHP|small heterodimer partner 2289443,2289613 BW413_H,BW396_H protein-coding 731848 NR1D1 nuclear receptor subfamily 1, group D, member 1 1580863 1971514,8622974,19267705,18804497,18511497,18228528,18227153,18037887,18006707,17075855,16484495,15190009,15489334,15302935,15013753,14684825,12821652,12683943,12477932,12454280,12377782,12114512,12021280,11669620,9660968,9482666,8948627,2539258,1850510,20534529,20581824,19913121,20628086,15761026,8889548,15604093,16219912,19693801,19696364,19710360,19818381,19839995,20072116,20160030,20174623,20348464,20396431 9572 NM_021724,AC068669,CH471152,X95536,AK300155,AK315270,AY429554,BC047875,BC056148,CR598991,CR608219,M24898,M24900,M34339,M34340,X72631,BM671861 NP_068370,EAW60636,BAG61939,AAH47875,AAH56148,AAA52335,AAA52332,AAA36561,AAA36562,CAB53540,P20393 Hs.724,Hs.592130 EAR1|THRA1|THRAL|ear-1|hRev Rev-ErbAalpha|V-erbA-related protein 1|nuclear receptor subfamily 1 group D member 1|rev-erbA-alpha|thyroid hormone receptor, alpha-like protein-coding 737421 NR1D2 nuclear receptor subfamily 1, group D, member 2 This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 7997240,18454201,18218725,18037887,17996965,17870090,16741567,15489334,12477932,11113208,10198169,9482666,8948627,15604093,20348464 9975 NM_005126,NM_001145425,AC124914,CH471055,AB307693,AK293273,AK301925,AK313464,BC015929,BC045613,BC070035,BX537786,CA412377,CR457434,CR602304,D16815,DR004486,L31785,AB209091 NP_005117,NP_001138897,EAW64340,EAW64341,BAH02284,BAG56802,BAG63345,BAG36250,AAH15929,AAH45613,AAH70035,CAG33715,BAA20088,AAA65937,Q14995,Q59GL8,Q6I9S1,Q6NSM0,Q96B66,BAD92328 Hs.37288 BD73|EAR-1R|RVR V-erbA-related protein 1-related|nuclear receptor subfamily 1 group D member 2|orphan nuclear hormone receptor BD73|rev-erb-beta|rev-erba-alpha-related receptor protein-coding 1352469 NR1H2 nuclear receptor subfamily 1, group H, member 2 The LX receptors (LXRs) were originally identified as orphan members of the nuclear receptor superfamily because their ligands were unknown. Like other receptors in the family, LXRs heterodimerize with retinoid X receptor (see MIM 180245) and bind to specific response elements (LXREs) characterized by direct repeats separated by 4 nucleotides. Two genes, alpha (LXRA, MIM 602423) and beta, are known to encode LXR proteins (Song et al., 1995 [PubMed 7625741]).[supplied by OMIM] 61674,1626248,1580863 19913121,20628086,12393874,17693624,17186944,19303409,19292929,19105208,20219900,20364260,18854425,18782758,18660489,18636124,18597895,18221307,18182682,18081155,18026184,17900622,17845217,17766241,17724434,17626048,17405904,17396233,17391100,17218271,17135302,17110595,17108812,17045963,16973760,16904112,16567856,16524875,16482468,16354658,16344560,16298468,15548517,15539633,15489334,14702039,14699103,14643652,12957674,12819202,12736258,12477932,12198243,12040022,11546778,10187832,9874807,7971966,7926814,7782080,7760852,7625741,11158331,16189514,20655109,12724417,15604093,16141411,16219912,17936707,19060904,19242521,19426978,19436111,19481530,19796621,19837721,19933273,19948975,20159957,20176747,20855565,21042792,20939869 61674,1626248 7376 NM_007121,AC008655,CH471135,AB307697,AK091535,AK290855,AK297978,AL598714,BC007790,BC033500,BC047750,BC074500,CA414979,CR456706,CR592437,CR598123,CR598124,CR603617,CR604070,CR609885,CR610600,CR614375,CR617823,CR749648,DA053472,U07132,U14534 NP_009052,EAW71850,EAW71851,EAW71852,EAW71853,EAW71854,EAW71855,BAH02288,BAG52378,BAF83544,BAG60288,AAH07790,AAH33500,AAH47750,AAH74500,CAG32987,CAH18442,AAA61783,AAA58594,P55055,Q68CY8,Q6IBU6,ABM81580 Hs.432976 LXR-b|LXRB|NER|NER-I|RIP15|UNR LX receptor beta|liver X receptor beta|liver X receptor-beta|nuclear orphan receptor LXR-beta|nuclear receptor NER|oxysterols receptor LXR-beta|steroid hormone-nuclear receptor NER|ubiquitously-expressed nuclear receptor 2289232 BW89_H protein-coding 733364 NR1H3 nuclear receptor subfamily 1, group H, member 3 1580788,1580863,1626248 17766241,17724434,17644777,17628006,17452725,17416342,17405904,17396233,17391100,17296605,17272748,17255360,17218271,17217555,17135302,17110595,17108812,16973760,16956579,16941683,16920108,16904112,16758300,16567856,16482468,16354658,16341674,16249184,16170053,16106051,16054077,15625283,15548517,15539633,15489335,15489334,15353176,15342556,15319359,14702039,14699103,12957674,12932788,12477932,12470296,12198243,12161442,12117567,12054659,12032151,11875109,11149950,11135616,11035776,10022764,9630215,9231657,9013544,8621574,8510758,17936707,15615782,12040021,7744246,17693624,17186944,19481530,19380774,19366697,19360318,19292929,19261092,19211025,19164445,19119143,19105208,19060910,18854425,18789440,18669643,18660489,18636124,18562803,18511497,18372238,18327405,18276933,18250151,18209740,18182682,18096827,18024509,18007013,17960176,17845217,20219900,20494359,20655109,20410489,12724417,15604093,16141411,16143103,19201410,19426978,19436111,19628791,19645823,19796621,19798078,19837721,19933273,20005944,20037595,20080977,20118482,20139031,20190811,20237496,19913121,20057170,20628086,20364260,20211142,20836841,20837115,20855565,21042792,19229075,11090131,20868688 1580788,1626248 10062 BC008819,BC041172,BM835230,BP300071,BT019411,CR596655,CR606496,CR607396,CR607859,CR615123,CR618031,CR619974,CV026805,U22662,NM_001130102,NM_005693,NM_001130101,AC018410,CH471064,AB307698,AI648486,AK122661,AK290614,AK302132,AK309027,AK311590,AK313311 AAH08819,AAH41172,AAV38218,AAA85856,Q13133,Q5U0N9,Q8IW13,ACE87408,ACE86722,NP_001123574,NP_005684,NP_001123573,EAW67942,EAW67943,EAW67944,EAW67945,EAW67946,EAW67947,EAW67948,EAW67949,BAH02289,BAG53649,BAF83303,BAG63507,BAG36116 Hs.438863 CHOP|LXR-a|LXRA|RLD-1|TLS/CHOP OTTHUMP00000198039|liver X receptor alpha|liver X receptor, alpha|liver X receptor-alpha|oxysterols receptor LXR-alpha protein-coding 734103 NR1H4 nuclear receptor subfamily 1, group H, member 4 729010,1580983,1580984,1625076,1625080,1625205,1625202,1580863 15576845,15564327,15471871,15454728,15342685,15317749,15202934,15187081,14990788,14988830,14729567,14684751,14527955,12891557,12815072,12806625,12761213,12754200,12660231,12554753,12477932,12062799,12004058,11733517,11136553,7774010,7760852,18978041,20855565,20883210,20447400,12917342,10334992,9223286,10334993,19245866,19228886,19195631,19150878,19072826,19059462,19028791,19027009,18972560,18927204,18842595,18779653,18769028,18768987,18676680,18668687,18660489,18514055,18436567,18029909,17988216,17931734,17876519,17681172,17519356,17507182,17495603,17333335,17272748,17241392,17071613,17054793,17047076,16778009,16494845,16460270,16423920,16269519,16251721,16197915,16037943,16012168,15817812,15721319,15604525,15590640,20399894,19105941,14701856,15604093,16219912,17474147,18563553,18755856,19170196,19393742,19418582,19556342,19625176,19692168,19833092,19864602,19910507,19913569,19948975,19996107,20026603,20189675,20346360,20827719 729010,1580983,1580984,1625076,1625080,1625205,1625202 9971 NM_005123,AC010200,CH471054,AB307699,AF384555,AF478445,AF478446,AK296612,AK296647,AK312959,BC035654,BC071778,BC130573,BC144183,BC144184,BC144187,BX571749,U68233 NP_005114,EAW97638,EAW97639,EAW97640,BAH02290,AAK60271,AAM53550,AAM53551,BAH12398,BAH12409,BAG35798,AAH71778,AAI30574,AAI44185,CAE11874,AAB08107,Q6IPQ7,Q7Z2W0,Q96RI1 Hs.282735 BAR|FXR|HRR-1|HRR1|MGC163445|RIP14 RXR-interacting protein 14|bile acid receptor|farnesoid X receptor|farnesoid X-activated receptor|farnesol receptor HRR-1|retinoid X receptor-interacting protein 14 protein-coding 2289770 NR1H5P nuclear receptor subfamily 1, group H, member 5 pseudogene 18065488,15229292,12529392,20210993 643609 NG_007471,AL358372 Fxrb|NR1H5 pseudo 69105 NR1I2 nuclear receptor subfamily 1, group I, member 2 This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq] 1580863 19232333,19173680,19171678,19144646,19141612,19129222,19124506,19115096,19034627,19011999,19010908,18981011,18831695,18800312,18784074,18765524,18518855,18502461,18391510,18381611,18305375,18305370,18294295,18276839,18268015,18220558,18192894,18095058,18056193,17962194,17925385,17924830,17876342,17828778,17827782,17764444,17761971,17712488,17635106,17576789,17573484,17526937,17507630,17438109,17436120,17429319,17418145,17404718,17327420,17279585,17262809,17088262,17050801,17048007,17028159,16973756,20624854,20518891,9727070,11891224,9784494,19516190,19470925,19401882,19297428,16952547,16857725,16841097,16837625,16834332,16831602,16691293,16608838,16606623,16556603,16507781,16472590,16452398,16328955,16297466,15985196,15933212,15919766,16085054,15772695,15713537,15690482,15630458,15618712,15535420,15489334,15322103,15316010,15252010,14977870,14977869,12920130,12909012,12760308,12644700,12606758,12569201,12485946,12477932,12413960,12397176,12072427,11865669,11668216,11408620,11297522,10473093,9770465,9489701,9373149,8125298,20531417,18978041,20819778,20836841,20861742,20876786,20970601,20818746,20538721,19913121,20628086,20635135,12578355,14702340,15604093,16219912,19460945,19505191,19593667,19617467,19702932,19739075,19746521,19833192,19842932,19878569,19898482,19902988,19934400,19940802,19958310,20082578,20107201,20171174,20218903,20222094,20346360,20354687,20361990,20379614,20538049 8856 NM_033013,NM_022002,NG_011856,AC069444,AF364606,AY007189,CH471052,DQ911122,AB307701,AF061056,AF084644,NM_003889,AF084645,AJ009936,AJ009937,AK122990,AK223456,AK310789,AY091855,BC017304,EF614253,DQ923326 NP_003880,NP_148934,NP_071285,AAK38720,AAK38721,AAK38722,AAG23345,EAW79537,EAW79538,EAW79539,ABJ52965,BAH02292,AAD05436,AAC64557,AAC64558,CAB55489,CAB55490,CAB55491,CAB55492,CAB55493,CAB55494,BAG53837,AAM26736,AAH17304,O75469,Q9H4M8,ABR09276,ABJ52966 Hs.7303 BXR|ONR1|PAR|PAR1|PAR2|PARq|PRR|PXR|SAR|SXR OTTHUMP00000215174|OTTHUMP00000215175|nuclear receptor subfamily 1 group I member 2|nuclear receptor subfamily 1, group 1, member 2|orphan nuclear receptor PAR1|orphan nuclear receptor PXR|pregnane X receptor|steroid and xenobiotic receptor protein-coding 1344163 NR1I3 nuclear receptor subfamily 1, group I, member 3 This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9783588,16554032,8020947,8114692,19302787,19034627,18713018,18332083,18331826,18305370,18303024,18294295,18202305,18154449,18056193,17962186,17888866,17876342,17596880,17576804,17464991,17276571,15933212,15919766,15831521,15618763,15610735,15572376,15563456,15489334,15382119,15272053,15252010,15194709,15151997,14567971,12896978,12799447,12644704,12644700,12611900,12551939,12511605,12485946,12477932,12376703,12181452,12130689,12114525,11891224,9773978,9295294,20622021,8650544,8603043,16712791,20197307,14963109,15604093,19682433,19702932,19858220,20218903,17207965 9970 NM_005122,AL590714,CH471121,AA918394,AB307702,AK303757,AK303796,AK310773,AK316208,AY572806,AY572807,AY572808,AY572809,AY572810,AY572811,AY572812,AY572813,AY572814,AY572815,AY572816,AY572817,AY572818,AY572819,AY572820,AY572821,AY572822,AY572823,AY572824,AY572825,AY572826,AY572827,BC030972,BC069626,BC069651,BC121120,BC121121,CB124867,DQ022681,NM_001077475,NM_001077473,NM_001077472,NM_001077476,NM_001077479,NM_001077477,NM_001077481,NM_001077471,NM_001077474,NM_001077482,NM_001077480,NM_001077478,NM_001077469,NM_001077470 Q6GZ76,Q6GZ77,Q6GZ78,Q6GZ79,Q6GZ81,Q6GZ82,Q6GZ83,Q6GZ84,Q6GZ85,Q6GZ87,Q6GZ88,Q6GZ89,NP_005113,CAH72153,CAH72154,EAW52608,EAW52609,EAW52610,BAH02293,BAH14039,BAH14053,BAH14579,AAT47159,AAT47160,AAT47161,AAT47162,AAT47163,AAT47164,AAT47165,AAT47166,AAT47167,AAT47168,AAT47169,AAT47170,AAT47171,AAT47172,AAT47173,AAT47174,AAT47175,AAT47176,AAT47177,AAT47178,AAT47179,AAT47180,AAH69626,AAH69651,AAI21121,AAI21122,AAY56401,Q0VAC9,Q14994,Q4U0F0,Q6GZ68,Q6GZ69,Q6GZ70,Q6GZ72,Q6GZ74,Q6GZ75,NP_001070937,NP_001070938,NP_001070943,NP_001070941,NP_001070940,NP_001070944,NP_001070947,NP_001070945,NP_001070949,NP_001070939,NP_001070942,NP_001070950,NP_001070948,NP_001070946,ADQ31935 Hs.349642 CAR|CAR1|MB67|MGC150433|MGC97144|MGC97209 OTTHUMP00000217486|OTTHUMP00000217487|OTTHUMP00000217488|OTTHUMP00000217492|OTTHUMP00000217493|OTTHUMP00000217499|OTTHUMP00000217501|OTTHUMP00000217508|OTTHUMP00000217509|OTTHUMP00000217510|constitutive activator of retinoid response|constitutive active receptor|constitutive active response|constitutive androstane receptor|nuclear receptor subfamily 1 group I member 3|orphan nuclear hormone receptor|orphan nuclear receptor MB67 protein-coding 1347339 NR1I4 nuclear receptor subfamily 1, group I, member 4 22817 1344559 NR2C1 nuclear receptor subfamily 2, group C, member 1 This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 2597158,17010934,16344560,14521922,12949936,12943985,12615366,12477932,12361719,12093804,12093744,11463856,9795341,9737983,9704569,3421977,9774688,19204783,20379614 7181 NM_001127362,NM_003297,NM_001032287,AC011598,CH471054,AB307707,AK291319,BC026074,BC040141,BE676699,CR590188,DB266298,M29959,M29960,M21985 NP_003288,NP_001120834,NP_001027458,EAW97517,EAW97518,EAW97519,EAW97520,BAH02298,BAF84008,AAH40141,AAA36650,AAA36762,AAA36761,P13056 Hs.108301,Hs.707524 TR2 TR2 nuclear hormone receptor|nuclear receptor subfamily 2 group C member 1|nuclear receptor subfamily 2, group C isoform|orphan nuclear receptor TR2|testicular receptor 2 protein-coding 1353162 NR2C2 nuclear receptor subfamily 2, group C, member 2 Members of the nuclear hormone receptor family, such as NR2C2, act as ligand-activated transcription factors. The proteins have an N-terminal transactivation domain, a central DNA-binding domain with 2 zinc fingers, and a ligand-binding domain at the C terminus. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes (Yoshikawa et al., 1996 [PubMed 8661150]).[supplied by OMIM] 69908,634394,1580863 9006963,18029348,17601350,14743216,14702039,14633987,12615366,12547194,12522137,12486131,12477932,12093744,11844790,11585904,10611280,9737983,8661150,8016112,7708055,12943985,10644740,18977241,15302918,15604093,19618297,19859911,19955181,20164171,20200282,20379614,20393820 69908,634394 7182 NM_003298,AC090937,AC090954,CH471055,AB307708,AK091226,AK094590,AK290590,BC030715,BC051670,BF307171,CA430806,CR614431,L27586 NP_003289,EAW64213,EAW64214,EAW64215,BAH02299,BAF83279,AAH51670,AAA21474,P49116,Q6PHZ7 Hs.555973 TAK1|TR2R1|TR4|hTAK1 Nuclear hormone receptor TR4|OTTHUMP00000160276|OTTHUMP00000208280|OTTHUMP00000208281|TR4 nuclear hormone receptor|nuclear receptor subfamily 2 group C member 2|orphan nuclear receptor TAK1|orphan nuclear receptor TR4|testicular receptor 4 protein-coding 1606467 NR2C2AP nuclear receptor 2C2-associated protein 17054912,15381082,12486131,12477932,17207965 126382 NM_176880,AC003110,AK301426,AY101377,BC057837,CF993811,CR594611 NP_795361,BAG62954,AAM48286,AAH57837,Q86WQ0,ADQ33035 Hs.708153 TRA16 TR4 orphan receptor associated protein TRA16|TR4 orphan receptor-associated 16 kDa protein|nuclear receptor 2C2-associated protein|repressor for TR4 transactivation protein-coding 1346337 NR2E1 nuclear receptor subfamily 2, group E, member 1 1580863 9628820,19058789,18391013,18205168,17873065,17655765,17054721,16344560,16000615,15489334,14574404,12477932,12079282,11073974,8047143,19555662,20360385 7101 NM_003269,AL078596,CH471051,AB307709,AF220532,AF411525,AK131541,BC028031,DA806924,Y13276 NP_003260,CAB75626,EAW48385,EAW48386,BAH02300,AAG31945,AAL05871,BAD18677,AAH28031,CAA73725,Q6ZMP8,Q9Y466,CAO03480,CAO03481 Hs.157688 TLL|TLX|XTLL hTll|nuclear receptor TLX|nuclear receptor subfamily 2 group E member 1|protein tailless homolog|tailes-related receptor|tailless homolog protein-coding 1351565 NR2E3 nuclear receptor subfamily 2, group E, member 3 This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 10220376,19273793,19139342,19006237,18436841,18294254,15459973,15277507,15190009,12963616,12477932,11773633,11487564,11071390,10965145,10655056,10611353,17982421,17564971,17081983,16225923,15689355,15634773,20591486,17255935,19718767,19823680,19898638,19933183,20212206,20211142,20801516 10002 NM_014249,NM_016346,NG_009113,AC104938,AF121130,AJ276674,CH471082,AB307710,AF121129,AF148128,BC041421 NP_055064,NP_057430,AAD28302,CAB82769,EAW77876,EAW77877,BAH02301,AAD28301,AAF22227,AAH41421,Q8IVZ9,Q9UNH8,Q9Y5X4 Hs.187354 ESCS|MGC49976|PNR|RNR|RP37|rd7 photoreceptor-specific nuclear receptor|retina-specific nuclear receptor protein-coding 732429 NR2F1 nuclear receptor subfamily 2, group F, member 1 1580863 8530078,2739739,19112178,18199540,17674191,17009409,15489334,15157742,12551987,12477932,12093745,11934895,11811951,11043578,10744719,10656770,10652338,10644726,10620335,10207062,9388268,8798567,2905047,1517211,1331778,1311101,10644740,12972613,15604093,16219912,19526345,19578876,20007910,20111703,20306291 7025 NM_005654,AC106818,CH471084,X12795,BC004154,BC017493,X16155 NP_005645,EAW96008,EAW96009,CAA31283,AAH04154,AAH17493,CAA34277,P10589 Hs.519445 COUP-TFI|EAR-3|EAR3|ERBAL3|NR2F2|SVP44|TCFCOUP1|TFCOUP1 COUP transcription factor 1|COUP transcription factor I|COUP-TF I|COUP-TF1|V-erbA-related protein 3|transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3) protein-coding 735361 NR2F2 nuclear receptor subfamily 2, group F, member 2 1580863 19913121,20549515,20585627,20628086,8530078,1899293,19210544,19154418,19082449,18815287,18798693,18765665,18199540,17455195,15666827,15611122,15489334,15265774,15231748,12843196,12614160,12477932,10744719,10704340,10318855,9826778,9343308,9115274,8910285,1820218,1312668,20351309,14739255,15604093,16219912,17554300,20147377,20195529 7026 NM_021005,NM_001145156,NM_001145157,AC016251,CH471101,U60477,AB307711,AF087993,AK298824,AK301595,AK316086,BC014664,BC033957,BC034585,BC042897,BC106083,BX538114,CR601286,M62760,M64497,NM_001145155,AC103746,FM208183,NG_016753 Q3KQR7,NP_001138627,NP_066285,NP_001138628,NP_001138629,EAX02195,EAX02196,EAX02197,EAX02198,AAB09475,BAH02302,BAG60954,BAG63083,BAH14457,AAH14664,AAH42897,AAI06084,AAA21479,AAA86429,P24468,CAR63888 Hs.347991 ARP1|COUP-TFII|COUPTFB|COUPTFII|MGC117452|SVP40|TFCOUP2 ADP-ribosylation factor related protein 1|COUP transcription factor 2|COUP transcription factor II|apolipoprotein A-I regulatory protein 1|apolipoprotein AI regulatory protein 1|chicken ovalbumin upstream promoter transcription factor 2 protein-coding 733507 NR2F6 nuclear receptor subfamily 2, group F, member 6 1580863 2905047,15489334,15302935,12690040,12477932,10713182,10644740,10318855,9226381,15604093 2063 NM_005234,AC010646,CH471106,X12794,AB307712,AK298764,AK314961,BC002669,BC063018,BC084544,CR597276 NP_005225,EAW84580,CAA31282,BAH02303,BAG60906,BAG37465,AAH02669,AAH63018,AAH84544,P10588 Hs.466148 EAR-2|EAR2|ERBAL2 ERBA-related gene-2|V-erbA-related protein 2|nuclear receptor subfamily 2 group F member 6|v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2 protein-coding 732227 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) The protein encoded by this gene is a receptor for glucocorticoids that can act as both a transcription factor and as a regulator of other transcription factors. This protein can also be found in heteromeric cytoplasmic complexes along with heat shock factors and immunophilins. The protein is typically found in the cytoplasm until it binds a ligand, which induces transport into the nucleus. Mutations in this gene are a cause of glucocorticoid resistance, or cortisol, resistance. Alternate splicing, the use of at least three different promoters, and alternate translation initiation sites result in several transcript variants encoding the same protein or different isoforms, but the full-length nature of some variants has not been determined. [provided by RefSeq] 61055,1580790,1601498,2308941,1331525,1580863,4892115,4892118,4892117,4892120 17442162,19484926,20850457,15521959,15511603,15501915,15497438,15489334,15462611,15459252,15372022,15292341,15289446,15276593,15265776,15212141,15171715,15159550,15062560,15044598,14764810,14764763,14749509,14733805,14715855,14634838,14617768,14616881,14522952,14521715,12974633,12933681,12920235,12917342,12903052,12902338,12864802,12843156,12810720,12807506,12805402,12787894,12773573,12754700,12748280,12738786,12730237,12711001,12686538,12642036,12637494,12634356,12623935,12612067,12581885,12569182,12487626,12477932,12477485,12466272,12444143,12430185,12379213,12351702,12351458,12237292,12237016,12225995,12208951,12193561,12151000,12145329,12144530,12118039,12114309,12114257,12099703,12093808,12050230,12039962,12039077,12011091,12000743,11996936,11983486,11971959,11932321,11873873,11818365,11812797,11751894,11739747,11711524,11710540,11708406,11701741,11689055,11673782,11589680,18219286,18195193,18194492,18182467,18165172,18160712,18156379,18096310,18086889,18079322,18047640,18028994,17989362,17952860,17951535,17937535,17853270,17848410,17716631,17704997,17703412,17682054,17681029,17635946,17602195,17592773,17572486,17563720,17559307,17556642,17552871,17540466,17535992,17532759,17522428,17517920,17512111,17496926,17490654,17460547,17438138,17407502,17404046,17395275,17392827,17382897,17291258,17242172,17242171,17239375,17236775,17186943,17185395,17184882,17167179,17133261,17116691,17070695,17065567,17043312,16980656,16973758,16971495,16914312,16895953,16890204,16855182,16849409,16809634,16806906,16806572,16740143,16728546,16725041,16684836,16676134,16648810,16638864,16636127,16624805,16621324,16615046,16610957,16610949,16580345,16469772,16458268,16450310,16446173,16387802,16319314,16263717,16239257,16236267,16222046,16216909,16204701,16192984,16189295,16134770,16131566,16083972,15956716,15955845,15941832,15933212,15919839,15916966,15895983,15879558,15866175,15862824,15826950,15797250,15784617,15774500,15770078,15769988,15761032,15755863,15746190,15713213,15698551,15611350,15591061,15590693,15576464,15576061,15557560,15550679,15545613,15531761,11571596,11562347,11555652,11463861,11435610,11358960,11344238,11287026,11279115,11250851,11238589,11229437,11162542,11158330,11154266,11152650,11146632,11119758,11101523,11096094,11080152,11027313,11005817,10995388,10933727,10903152,10902803,10898924,10866662,10848625,10784585,10713182,10713165,10691735,10688647,10639135,10601862,10567404,10566686,10518526,10508170,10490647,10480874,10477749,10430878,10391209,10359081,10187825,10085091,10066374,8621628,9079630,10364267,11266503,12773562,7769088,10903900,7877627,9873044,10887960,18029348,19621425,19595997,19548263,19527514,19491387,19463884,19453261,19450611,19450127,19435830,19429432,19413563,19375647,19372434,19365399,19336370,19336230,19318444,19282465,19258923,19248771,19241242,19234457,19234455,19230884,19222494,19207316,19188741,19183974,19177170,19174530,19146914,19133972,19100874,19095219,19089807,19086053,19074285,19051288,19019335,19008334,19007849,19007848,19005987,18996102,18983327,18958157,18952539,18945813,18854398,18838540,18838498,18830906,18827003,18822299,18818748,18812484,18801933,18789525,18772142,18728163,18663733,18660489,18636124,18595687,18583474,18536531,18515658,18510611,18502562,18483179,18468809,18417736,18408151,18407829,18398271,18396779,18385010,18362306,18343955,18337589,18331827,18295813,18286599,18269582,18248637,18246526,20484466,20660302,20561560,20156759,20438742,9928932,7887964,7873448,7823959,7724608,7683692,7659084,7621901,7295795,7264103,7254211,6621034,6509026,3841189,3597702,2867473,2793174,2026589,2019585,1865905,1707881,1704018,1612132,1562545,1469072,1152650,15832179,15725353,15638722,15265780,15142377,16429131,15380361,11117529,10517667,11792840,9671457,12595526,12874288,12361945,14966297,9215863,11704662,1958537,9915858,9874563,9817600,9742105,9703718,9649342,9637764,9603979,9590696,9584182,9528750,9482670,9435432,9426156,9388192,9373149,9353307,9348235,9334723,9334248,9261129,9199329,9195923,9162033,9154805,9150737,9148915,9115274,9089287,9038175,8898375,8878484,8863343,8800208,8733011,8645634,8621522,8530516,8449898,8445027,8358735,8358712,8349631,8341706,8316249,8290595,8288028,8269959,8223438,8157642,8125298,8107808,8051160,20727199,20731635,20712049,20733583,19875955,19913121,20485444,20584071,20602615,20628086,20634891,20680430,20697295,20448266,20543003,20661446,20843780,20545708,16380507,16423881,16762839,20861124,20140262,20211142,20619282,20716560,20734064,20841450,20885351,21050724,12552091,14739255,16143103,16362036,16523501,16619302,16888650,18668364,19339282,19373457,19466222,19545546,19562035,19564704,19570036,19578796,19586900,19605973,19628874,19633971,19646928,19673019,19683543,19691529,19723618,19758697,19778524,19779205,19782477,19783104,19797430,19801529,19805480,19818358,19841061,19874574,19913032,19940520,19948975,20015838,20015871,20018896,20032106,20035271,20036846,20093418,20124551,20137628,20156337,20170710,20199670,20219685,20335448,20351714,20371666,20376328,20403506,20472303,20503287,20547006,9128241 61055,1580790,1601498,2308941,1331525,4892115,4892118,4892117,4892120 2908 NM_001018074,NM_001018075,NM_001018076,NM_001024094,NM_000176,NM_001020825,NG_009062,AC004782,AC005601,AC010284,AC091925,AF304129,AF395116,AY436590,CH471062,M69104,M73050,M73816,S68378,U80946,U80947,AB307716,AJ877166,AJ877167,AJ877168,AJ877169,AJ877170,AJ877171,AJ877172,AJ888004,AK223594,AK302050,AK314789,AM183262,BC015610,BF966114,BX640610,BX648553,U01351,NM_001018077,X03225,X03348,HQ205568,HQ205567,HQ205569,HQ205570,HQ205571,HQ205572,HQ205573,HQ205574,HQ205575,HQ205576,HQ205577,HQ205578,HQ205579,HQ205580,HQ205581,HQ205582,HQ205583,HQ205584,HQ205585,HQ205546,HQ205547,HQ205548,HQ205549,HQ205550,HQ205551,HQ205552,HQ205553,HQ205554,HQ205555,HQ205556,HQ205557,HQ205558,HQ205559,HQ205560,HQ205561,HQ205562,HQ205563,HQ205564,HQ205565,HQ205566,CS542423,FB571449,FB571451,FB571453,FB571455,FB571457,FB571459,FB571461,EU332858 NP_001018087,NP_001018084,NP_001018085,NP_001018086,NP_001019265,NP_000167,NP_001018661,AAC34207,AAQ97180,EAW61870,EAW61871,EAW61872,EAW61873,AAA88049,AAA53151,AAB20466,AAB64353,AAB64354,BAH02307,CAI46893,CAI46894,CAI46895,CAI46896,CAI46897,CAI46898,CAI46899,CAI59612,BAD97314,BAH13618,CAJ65924,AAH15610,CAE45716,AAA16604,CAA26976,CAA27054,P04150,Q3MSN1,Q3MSN4,ABZ92006,AAA16603,ADP91134,ADP91135,ADP91136,ADP91137,ADP91138,ADP91139,ADP91140,ADP91141,ADP91142,ADP91143,ADP91144,ADP91145,ADP91146,ADP91147,ADP91148,ADP91149,ADP91150,ADP91151,ADP91152,ADP91153,ADP91154,ADP91155,ADP91156,ADP91157,ADP91158,ADP91159,ADP91160,ADP91161,ADP91162,ADP91163,ADP91164,ADP91165,ADP91166,ADP91167,ADP91168,ADP91169,ADP91170,ADP91171,ADP91172,ADP91173,ADP91174,ADP91175,ADP91176,ADP91177,ADP91178,ADP91179,ADP91180,ADP91181,ADP91182,ADP91183,ADP91184,ADP91185,ADP91186,ADP91187,ADP91188,ADP91189,ADP91190,ADP91191,ADP91192,ADP91193,ADP91194,ADP91195,ADP91196,ADP91197,ADP91198,ADP91199,ADP91200,ADP91201,ADP91202,ADP91203,ADP91204,ADP91205,ADP91206,ADP91207,ADP91208,ADP91209,ADP91210,ADP91211,ADP91212,ADP91213,ADP91214,ADP91215,ADP91216,ADP91217,ADP91218,ADP91219,ADP91220,ADP91221,ADP91222,ADP91223,ADP91224,ADP91225,ADP91226,ADP91227,ADP91228,ADP91229,ADP91230,ADP91231,ADP91232,ADP91233,ADP91234,ADP91235,ADP91236,ADP91237,ADP91238,ADP91239,ADP91240,ADP91241,ADP91242,ADP91243,ADP91244,ADP91245,ADP91246,ADP91247,ADP91248,ADP91249,ADP91250,ADP91251,ADP91252,ADP91253,CAM91161,CAR95142,CAR95143,CAR95144,CAR95145,CAR95146,CAR95147,CAR95148,ABY87547 Hs.122926 GCCR|GCR|GR|GRL OTTHUMP00000222854|OTTHUMP00000222858|glucocorticoid receptor|nuclear receptor subfamily 3 group C member 1|nuclear receptor subfamily 3, group c, member 1 2289514,2289517 BW456_H,BW455_H protein-coding 1347970 NR3C1P nuclear receptor subfamily 3, group C, member 1 pseudogene 2867473 2910 733363 NR3C2 nuclear receptor subfamily 3, group C, member 2 1580863,1600927,1600930 19648477,19648480,20299606,19912655,20357208,15126537,15120696,15117605,15080790,14617569,14500761,12788847,12679457,12544508,12538613,12483305,12477932,12125101,12015312,11960770,11711524,11675945,11350956,11344206,11154266,11134129,10936692,10935545,10884226,10760050,10691735,10391210,9724527,9392437,9141514,9115274,8612804,15192075,15171715,7495694,2558856,2162806,1655735,11518808,9662404,3037703,19344080,19325532,19260141,19086053,18981328,18819053,18468809,18467630,18443236,18408592,18184651,18182467,17724138,17703341,17675581,17670905,17334527,17314004,17311890,17287415,17133261,17105732,17018659,16972228,16964418,16954160,16516149,16446868,16344560,16275882,16145013,16061183,15967794,15939817,15908963,15882548,15824464,15761031,15761029,15737989,15718497,15713533,15666800,12644298,14702039,15604093,19477942,19541744,19665310,19850283,19944075,19955850,20030467,20054001,20379614,20486282,20528958,8889548,9618022,20855654,19913121,20484457,20628086,20680430,20832946,20884124,21036197 1600927,1600930 4306 NM_000901,AC069272,AC093678,AC093881,AC104691,AC106889,AF068616,AF068617,AF068618,AF068619,AF068620,AF068621,AF068622,AF068623,CH471056,EU326312,AB209056,AJ315514,AJ315515,AK304318,BC111758,DB061545,M16801,AK123047,BQ184536,DB232659,FJ515829,NG_013350,NM_001166104,U48393,X97925 NP_000892,AAY41033,AAC63513,EAX05008,ACA05923,ACA05924,ACA05926,BAD92293,CAC67405,CAC67406,BAG65170,AAI11759,AAA59571,P08235,Q2NKL1,Q4W5E8,Q59GQ3,ACS13715,ACS13716,ACS13718,NP_001159576 Hs.163924,Hs.723668 FLJ41052|MCR|MGC133092|MLR|MR|NR3C2VIT OTTHUMP00000220257|OTTHUMP00000220261|aldosterone receptor|mineralocorticoid receptor|mineralocorticoid receptor 1|mineralocorticoid receptor delta protein-coding 732751 NR4A1 nuclear receptor subfamily 4, group A, member 1 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 20558821,20659174,20677014,20438716,20217038,18305892,18835031,2626032,11274386,19321449,19213954,19148494,18713840,18292087,18248459,18202854,18079734,18073527,17761950,17709892,17543302,17434920,17297306,17139261,17023523,16904076,16873729,16847753,16723716,16713569,16595694,16480977,16467267,16434970,16264271,16223362,16082387,15964844,15871945,15625237,15591535,15509776,15498889,15494375,15489334,15486232,15466594,17543277,17515897,15459248,15385570,15292355,15208301,15159280,15033715,14980220,14769794,14729605,14702039,14678255,14612408,14592536,14525795,14500374,12947120,12842839,12506026,12477932,12376465,12153396,12082103,12046067,12032831,11983153,11883936,11700033,11559707,10947977,10777386,8227042,7890657,2555161,2283997,1651101,14751250,18305400,16169070,20411565,20668010,19675165,19751824,19789410,20010315,20023005,20059973,20083153,20525362 3164 NM_002135,NM_173157,AC025259,CH471111,U17590,AB307717,AK075054,AK075491,AK096816,AK131566,AK297526,AK314437,AL702926,AL831844,BC016147,BT007144,CR456704,CR590328,D49728,D85245,L13740,HC025814,BG057763,NM_001202233 NP_002126,NP_775180,EAW58222,EAW58223,EAW58224,EAW58225,EAW58226,EAW58227,EAW58228,BAH02308,BAD18699,BAG59929,BAG37048,CAD38550,AAH16147,AAP35808,CAG32985,BAA08565,BAA12746,AAA36763,P22736,Q15627,Q53Y00,Q6IBU8,Q6ZMM6,Q8N3V2,ABM82060,ABM85239,CBH19838,NP_001189162 Hs.524430 GFRP1|HMR|MGC9485|N10|NAK-1|NGFIB|NP10|NUR77|TR3 OTTHUMP00000197256|ST-59|TR3 orphan receptor|early response protein NAK1|growth factor-inducible nuclear protein N10|hormone receptor|immediate early gene transcription factor ngfi-b|nuclear hormone receptor NUR/77|nuclear receptor subfamily 4 group A member 1|orphan nuclear receptor HMR|orphan nuclear receptor TR3|steroid receptor TR3|testicular receptor 3 protein-coding 732028 NR4A2 nuclear receptor subfamily 4, group A, member 2 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1358553,1580863 7877627,19494806,19453261,19429166,19352218,19224617,19156841,19074857,19065535,18937842,18684475,18577687,18292087,18242186,18195715,18057194,17728669,17709391,17681692,17671512,17574328,17427185,17283078,17081983,17032747,16977628,16873729,16806233,16532445,16477036,16344560,16320253,16293616,15964844,15635701,15635645,15548686,15489334,15486232,15450088,15390059,15292355,15276233,15211629,15197702,15184637,15018843,14988426,14671317,14559918,14525795,12875905,12852843,12827450,12815740,12774125,12756136,12694388,12627459,12564761,12496759,12477932,11959923,11914402,11884470,11840500,11803525,10216262,10216261,9373149,8125298,7758108,7706727,7705655,15961999,18463503,19913121,20560679,20628086,20659174,19144721,17043312,17184956,21102462,20339536,15604093,16223362,18583979,19549529,19569046,19570744,19671681,19692620,19732956,19861119,20016108,20049900,20421523 1358553 4929 NM_006186,NG_011821,AB017586,AB019433,AC074099,CH471058,AK223625,AK291456,AK299439,AK309786,BC009288,BC066890,BM922519,DA093733,FJ643485,S77154,X75918,HI574334 NP_006177,BAA75666,BAA77328,AAY24203,EAX11454,EAX11455,BAD97345,BAF84145,BAH13033,AAH09288,AAH66890,ACN32471,AAB33999,CAA53518,P43354,Q53EL4,Q6NXU0,ACE87753,ACE87072,CBX47656 Hs.563344 HZF-3|NOT|NURR1|RNR1|TINUR NGFI-B/nur77 beta-type transcription factor homolog|OTTHUMP00000204451|OTTHUMP00000209445|OTTHUMP00000209447|OTTHUMP00000209457|OTTHUMP00000209459|T-cell nuclear receptor NOT|immediate-early response protein NOT|intermediate-early receptor protein|nuclear receptor subfamily 4 group A member 2|nur related protein-1, human homolog of|orphan nuclear receptor NR4A2|orphan nuclear receptor NURR1|transcriptionally inducible nuclear receptor related 1|transcriptionally-inducible nuclear receptor protein-coding 1348747 NR4A3 nuclear receptor subfamily 4, group A, member 3 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Four transcript variants encoding three distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 19321449,19336002,20411565,20668010,9573341,8570200,8634690,18325999,17981763,17596136,17515897,16945922,16873729,15964844,15949808,15523651,15262426,15164053,14962944,14525795,12543801,11173923,11156374,10602519,10359536,8809112,8614405,7811288,20558821,20659174,15604093,16223362,19682370,19720740,19727524,19775727 8013 NM_006981,NM_173199,NM_173200,AL358937,AL359710,CH471105,AK226108,BX649089,D78579,D85241,D85242,S81243,U12767,X89894 NP_008912,NP_775291,NP_775292,CAI95320,CAI95138,CAI95139,EAW58915,EAW58916,EAW58917,EAW58918,CAH10551,BAA11419,BAA28608,BAA31221,AAB36006,AAB02581,CAA61984,Q6AW80,Q92570 Hs.279522 CHN|CSMF|MINOR|NOR1|TEC chondrosarcoma, extraskeletal myxoid, fused to EWS|mitogen induced nuclear orphan receptor|mitogen-induced nuclear orphan receptor|neuron derived orphan receptor|neuron-derived orphan receptor 1|nuclear hormone receptor NOR-1|nuclear receptor subfamily 4 group A member 3|translocated in extraskeletal chondrosarcoma protein-coding 68493 NR5A1 nuclear receptor subfamily 5, group A, member 1 The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq] 1598967,1580863 19875956,17664281,8205615,10369247,9590178,10567391,19549922,19439508,19246354,19237537,19022561,19001523,18984668,18974272,18824868,18665078,18653709,18579725,18182853,18165439,17975261,17940071,17901130,17786540,17761949,17694559,17520059,17519303,17488792,17331471,17226773,16887917,16834661,16816804,16709599,16684822,16595694,16564598,16500365,16469813,16127213,15897460,15879363,15831526,15707893,15666825,15579738,15546904,15489334,15471945,15388788,15379426,15261303,15192080,15044589,14702039,14623279,14580722,14555713,20394914,20453312,12907682,12843196,12782406,12732652,12730328,12727988,12651892,12554773,12477932,12161505,12101186,12083815,12083805,11932325,11932209,11897684,11886523,11738790,11592817,11574675,11518799,11479297,11459805,11071856,11038323,10919277,10684809,10478848,10446911,10369682,10230405,9774680,9328345,9238716,9183568,9002548,8964846,8806624,7789992,7629233,7479914,12861022,11713202,12920234,20601698,20207836,20887963,10848616,12917325,14701856,14963109,16488887,17474147,19692572,19849982,19878766,19930843,20026603,20045459,20080844,20133449,20302644,20660055 1598967 2516 NM_004959,NG_008176,AB009577,AL137846,AL354979,AY542548,CH471090,D88155,U32592,AB307718,AK090858,BC032501,U76388 NP_004950,BAB18655,CAI10871,CAI10872,CAI10957,CAI10958,CAI10959,AAS48621,EAW87591,BAA13546,AAA75332,BAH02309,AAH32501,AAB53105,Q13285,Q5T6F6,Q5T6F7,Q6QGY2,Q9H3V4,ABZ92004 Hs.495108 AD4BP|ELP|FTZ1|FTZF1|POF7|SF-1|SF1 STF-1|adrenal 4 binding protein|adrenal 4-binding protein|fushi tarazu factor homolog 1|nuclear receptor AdBP4|steroid hormone receptor Ad4BP|steroidogenic factor 1|steroidogenic factor-1 protein-coding 68499 NR5A2 nuclear receptor subfamily 5, group A, member 2 1580863 19913121,20628086,14701856,14963109,15143342,15604093,16271724,17664281,18029348,19264593,19359379,19629617,20101243,20133449,20159957,20379614,9786908,12040021,16289203,19074734,19022561,19015525,18665078,18508634,18410128,18385139,18270374,18191017,17977826,17952562,17910058,17522048,17095585,16469397,16450584,16439367,16282330,16091743,15963945,15923626,15897460,15723037,15707893,15613430,15218078,15205472,15181096,15143151,15121760,15117876,14671206,12972592,12853459,12852843,12820970,12477932,12208674,11927588,11668176,11595170,11564608,11030332,10359768,9858833,8938589,7680097,12198243,15327767,14728801,16712791 2494 NM_205860,NM_003822,AC096633,AF190464,AF319643,CH471067,AB019246,AB307719,AF049102,AF112344,AF124247,AF146343,AF228413,AK304344,AK304365,AK308446,AK316513,BC027893,BC118571,BC118652,CA776772,CB162803,U80251,U93553 NP_995582,NP_003813,AAG17124,AAG17125,AAL37171,EAW91305,EAW91306,EAW91307,EAW91308,BAA34092,BAH02310,AAD03248,AAD26565,AAD37378,BAG65188,BAG65205,BAH14884,AAI18572,AAI18653,AAC78727,AAD03155,O00482,O60587,Q8WY08,Q9UEC0,Q9Y5V6 Hs.33446 B1F|B1F2|CPF|FTF|FTZ-F1|FTZ-F1beta|LRH-1|LRH1|hB1F|hB1F-2 CYP7A promoter-binding factor|alpha-1-fetoprotein transcription factor|b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus|fetoprotein-alpha 1 (AFP) transcription factor|hepatocytic transcription factor|liver receptor homolog 1|liver receptor homolog-1|nuclear receptor NR5A2|nuclear receptor subfamily 5 group A member 2 protein-coding 1345014 NR6A1 nuclear receptor subfamily 6, group A, member 1 This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. The gene expresses at least alternatively spliced transcript variants. [provided by RefSeq] 1580863 20583170,9134503,15489334,15456763,12606326,12477932,12381721,12080054,11969338,11387038,10940306,10524192,9858592,9846950,9537518,9177477,9099702,8982251,16169070,17416745,20379614,21056546 2649 NM_001489,AL158075,AL354928,AL354979,AL669818,CH471090,AF004291,BC030600,BC042395,BC042406,S83309,NM_033334,U80802 NP_201591,NP_001480,CAI13577,CAI39633,CAI10960,EAW87593,EAW87594,EAW87595,AAC52054,AAH30600,AAB50876,AAB96828,Q15406 Hs.586460 GCNF|GCNF1|NR61|RTR OTTHUMP00000215858|germ cell nuclear factor|hGCNF|hRTR|nuclear receptor subfamily 6 group A member 1|retinoic acid receptor-related testis-associated receptor|retinoid receptor-related testis-specific receptor protein-coding 3302160 NRADDP neurotrophin receptor associated death domain, pseudogene The neurotrophin receptor alike death domain proteins belong to the death domain superfamily and are involved in mediating apoptosis. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq] 12095158,12728256,18085818,20210993 100129354 AC094020,BX117367,NR_024046 Hs.201522 pseudo 1315517 NRAP nebulin-related anchoring protein 8681137,9339382,16381901,15967462,15489336,15489334,15164054,14702039,12789664,12477932,11230166,11076863,10320340,9295142,12692149,16385451,20379614,20808825 4892 NM_198060,AL390197,CH471066,NM_006175,U96486,AF542553,AK056605,AK056969,AK096875,AK096886,AL831980,AL832025,BX641052,BX647658,F30818,AL832457,AY081943,AY177620,AY177621,BC005933,BC017866,BC058825,BC070130,BC126407,BC143751,BX640682,BX640730,AL832330 NP_006166,NP_932326,CAH71109,CAH71110,CAH71111,EAW49499,EAW49500,EAW49501,EAW49502,EAW49503,EAW49504,AAC51786,AAQ09536,BAB71231,BAB71328,BAG53387,BAC04884,CAD89899,CAD89910,CAE45846,CAE46027,A0AVL2,Q05D68,Q86VF7,Q96MQ3,CAL37520,CAL38225,CAL38407,CAL38670,CAD38623,CAD89998,AAL99185,AAO47073,AAO47074,AAH05933,AAH17866,AAH58825,AAH70130,AAI26408,AAI43752,CAE45811 Hs.268788 N-RAP|nebulin-related-anchoring protein protein-coding 1604888 NRARP NOTCH-regulated ankyrin repeat protein 17207965,12477932,16712791,20098747 441478 NM_001004354,BX255925,CH471090,BC053618,CB066921,CB132749,CK819901 CAX15142,ADQ33074,NP_001004354,EAW88380,AAH53618,Q7Z6K4 Hs.535075 MGC61598 notch-regulated ankyrin repeat-containing protein protein-coding 735648 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated to a GTP-bound form by a GTPase activating protein and inactivated to a GDP-bound form by a guanine nucleotide-exchange factor. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). [provided by RefSeq] 2314838,2314837,1598680,2303822,2300006,2314836,1580863 20619739,20012784,19874312,20703244,20720566,20824703,20860430,20880116,20881644,20975100,21072204,20392691,20371679,11520933,7972015,8493579,9069260,9690470,19492075,19487299,19383313,19351817,19319568,19309322,19303097,19190079,19101897,19047918,19037234,18980976,18945298,18814281,18788612,18760455,18701506,18668139,18641128,18632627,18615679,18567617,18559876,18450602,18375819,18323787,18316589,18316586,18310288,18227705,18008004,18006851,18000091,17960171,17949898,17943694,17910045,17900235,17893876,17786355,17712732,17671710,17550846,17517660,17507627,17332249,17297468,17119447,17036375,16847854,16845322,16761621,16573741,16462768,16344560,16142319,16135812,16098042,16076867,16000296,15766527,15761153,15705808,15688405,15674343,15531466,15489334,15474158,15060167,14961576,14737077,14695152,14688017,12783933,12727991,12637339,12483530,12477932,12393454,12230495,12082607,11948427,11524732,11332726,10918068,10783161,10655059,10490827,10412982,9674433,9578425,9488663,8665852,8607982,8280380,7820549,7789166,6616621,6587382,6086315,3887133,3856237,3295562,3276402,3102434,3057505,2998510,2991860,2661017,1970154,1692298,9344703,9269777,11136978,10882715,16169070,12808105,20713885,20157749,19913121,20192584,20628086,20678218,20726318,20736745,10712923,16737746,17056636,19633643,19705759,19718661,19759551,19765726,19789336,19802003,19819220,19833857,19865112,19954345,19966803,20056178,20098682,20140953,20147298,20150643,20237506,20379614,20520634,20526288,9069267,9297626 2314838,2314837,1598680,2303822,2300006,2314836 4893 X07440,BT019734,NG_007572,AL096773,AY428630,CH471122,EU332857,K03211,L00043,M25898,S68580,X00642,X00643,X00644,X00645,X05564,X05565,NM_002524,X53291,AF493919,AY941101,BC005219,BT019735,CR595772,CR596134,CR598435,CR615916,DA007844,X02751,HD032933,AY941100,BC013214,CR605091 NP_002515,CAI18827,AAQ94397,EAW56608,EAW56609,EAW56610,EAW56611,ABY87546,AAA36556,AAA60255,AAA36548,AAB29639,CAA25269,CAA25270,CAA25271,CAA25272,CAA29078,CAA29079,CAA30320,CAA37384,AAM12633,AAH05219,AAV38539,AAV38540,CAA26529,P01111,Q16525,Q5U091,Q9UM97,CBV35642 Hs.486502 ALPS4|N-ras|NRAS1|NS6 GTPase NRas|N-ras protein part 4|transforming protein N-Ras|v-ras neuroblastoma RAS viral oncogene homolog protein-coding 1346110 NRBF2 nuclear receptor binding factor 2 61677,1580863 7566098,20098747,20562859,15610520,15489334,14702039,12477932,11256614,11230166,10786636,9373149,8125298,17207965 61677 29982 NM_030759,AL590502,CH471083,AF267866,AK054957,AK225256,AK225257,AK301656,AL136656,AU310836,AY267839,AY267840,BC001345,BC011707,CR603566,CR607933,CR613482,CR615835 NP_110386,EAW54240,EAW54241,AAG44735,BAB70833,BAG63132,CAB66591,AAP03081,AAP03082,AAH11707,Q96F24,ACE87545,ACE86858,CAO03491,ADQ31828 Hs.449628 COPR1|COPR2|DKFZp564C1664|FLJ30395|NRBF-2 comodulator of PPAR and RXR|nuclear receptor binding factor-2|nuclear receptor-binding factor 2 protein-coding 1354113 NRBP1 nuclear receptor binding protein 1 11956649,15084397,17353931,17052710,16964243,16189514,15815621,15489334,15345747,14702039,12477932,12176995,11230166,10843813,9373149,8125298,1048605,16169070 29959 NM_013392,AC074117,CH471053,AF113249,AK001946,AK027538,AK092860,AK122664,AK130619,AK223136,AK225540,AK301345,AL136682,BC001221,BQ225378,BQ949042,CR591118,CR604477,CR617536,CR625057 NP_037524,AAY14847,EAX00578,EAX00579,EAX00580,AAF21967,BAA91993,BAB55185,BAG53652,BAD96856,BAG62893,CAB66617,AAH01221,Q9UHY1,ABM86741,ABW03817 Hs.515876 BCON3|FLJ27109|FLJ35541|MADM|MUDPNP|NRBP OTTHUMP00000123427|OTTHUMP00000200794|multiple domain putative nuclear protein|myeloid leukemia factor 1 adaptor molecule|nuclear receptor binding protein|nuclear receptor-binding protein protein-coding 1351329 NRBP2 nuclear receptor binding protein 2 18619852,15498874,15489334,14702039,12477932 340371 NM_178564,AC105049,CH471162,AF318376,AK094017,AK293943,AK308967,AL137662,AL834530,AY277601,BC037396,BC071605,BC113873,BC114481,CR457350,AI094905,AC234917 NP_848659,EAW82178,EAW82179,EAW82180,EAW82181,EAW82182,EAW82183,AAL55883,BAG52798,BAG57320,CAB70864,CAD39186,AAI13874,CAG33631,Q9NSY0,AAQ18040 Hs.521926 DKFZp434P086|MGC138699|TRG16|pp9320 nuclear receptor-binding protein 2|transformation-related protein 16 protein-coding 731343 NRCAM neuronal cell adhesion molecule Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 19058789,18664314,18602664,17667921,17106428,16335952,16123759,15523497,15128462,14702039,12853948,12477932,12421765,12183361,12139915,12045112,11866539,11724816,11449000,9604207,9321706,9205841,9049255,16344560,8889548,8922386,14602817,11483367,8812479,19154219,19086053,19598235,20039944,20379614,20602751 4897 NM_001037132,AC005058,AC005683,AC007567,AF172277,CH236947,CH471070,U55258,AB002341,AI031622,AJ001054,AJ001057,AK092330,AK127035,AK294195,NM_005010,BU735065,DA292156,DA398450,NM_001193582,NM_001193583,NM_001193584,AK299870,AY528240,BC098401,BC114570,BC115736,BX538010,BX954399 NP_005001,NP_001032209,AAS07434,AAF22282,AAF22283,EAL24386,EAW83427,EAW83428,EAW83429,EAW83430,AAC50765,BAA20801,CAA04504,CAA04507,BAG52532,NP_001180511,NP_001180512,NP_001180513,BAG57510,BAH13156,AAS48507,AAH98401,AAI14571,AAI15737,CAD97960,Q14BM2,Q14CA1,Q4KMQ7,Q6QRP2,Q75ML9,Q92823 Hs.21422 KIAA0343|MGC138845|MGC138846 NgCAM-related cell adhesion molecule|NrCAM-|OTTHUMP00000207067|OTTHUMP00000207071|bravo|hBravo|neuron-glia-cam-related cell adhesion molecule|neuronal cell adhesion molecule|neuronal surface protein Bravo|ng-CAM-related|nr-CAM protein-coding 731928 NRD1 nardilysin (N-arginine dibasic convertase) 729085,1580863 12095415,11478915,11432822,11042131,20877624,12463163,9581555,18355445,15544571,9479496,19118164,17442499,16923819,16710414,16344560,15489334,14702039,12590613,12477932,19615732 729085 4898 NM_001101662,NM_002525,AJ000350,AL050343,AL589663,CH471059,AK055516,AK299271,AK302616,AK311631,AK312318,AY049784,AY360265,BC008775,CA422553,DA245717,DA756064,U64898,X93207,X93209 NP_001095132,NP_002516,CAA04025,CAI22214,CAI22215,CAI22216,CAH74099,CAH74100,EAX06804,EAX06805,EAX06806,EAX06807,EAX06808,EAX06809,BAG61292,BAG63862,AAL15441,AAQ63406,AAH08775,AAC39597,CAA63693,CAA63694,CAA63697,CAA63698,O43847,Q5TFB9,Q6UUU9,Q96L67 Hs.584782 hNRD1|hNRD2 N-arginine dibasic convertase|NRD convertase|NRD-C|nardilysin protein-coding 1312137 NRF1 nuclear respiratory factor 1 This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternate transcriptional splice variants, which encode the same protein, have been characterized. Additional variants encoding different protein isoforms have been described but they have not been fully characterized. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq] 1580863,1357966,2302400,2302404 20587593,20629635,7629110,8034649,19453261,19181665,18719883,18660489,18234454,18222924,18184751,18071027,16082529,15992771,15684387,15656981,15525513,15479157,15452206,15342556,15257658,15126285,14962666,14747477,14715254,12958173,12832613,12690205,12477932,11943463,11457459,11069771,11058604,10777530,10412986,10364186,10222232,9492280,9228045,9108165,8541844,8253388,8108407,7558044,2584221,12174908,11340167,12490281,18364745,19674972,20561910,20724482,19913121,20599696,20628086 1357966,2302400,2302404 4899 NM_001040110,AC078846,AC084864,CH236950,CH471070,U18375,U18376,U18377,U18378,U18379,U18380,U18381,U18382,U18383,AI816827,AK290891,AK293351,AL530274,NM_005011,HC309804,BC016925,BG742958,BM449724,BM993780,BP215381,DN998889,EU159452,L22454,U02683 NP_005002,NP_001035199,EAL24100,EAW83726,EAW83727,EAW83728,EAW83729,EAW83730,EAW83731,AAA79013,BAF83580,BAG56867,CBJ21209,AAH16925,ABV90872,AAA16918,AAA21647,Q16656,Q96AN2,ABZ92172 Hs.654363 ALPHA-PAL NRF-1|OTTHUMP00000184912|OTTHUMP00000184913|alpha palindromic-binding protein|nuclear respiratory factor 1 protein-coding 731515 NRG1 neuregulin 1 The protein encoded by this gene was originally identified as a 44-kD glycoprotein that interacts with the NEU/ERBB2 receptor tyrosine kinase to increase its phosphorylation on tyrosine residues. This protein is a signaling protein that mediates cell-cell interactions and plays critical roles in the growth and development of multiple organ systems. It is known that an extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are tissue-specifically expressed and differ significantly in their structure, and thereby these isoforms are classified into types I, II, III, IV, V and VI. The gene dysregulation has been linked to diseases such as cancer, schizophrenia and bipolar disorder (BPD). [provided by RefSeq] 1580810,1580863,1581606,2317965 10372964,11389077,18583979,19306381,19439994,19448847,19449332,19497323,19545856,19556605,19569180,19573260,19575259,19594860,19597049,19626024,19644050,19652122,19659570,19733651,19736351,19782967,19797898,19801490,19802002,19913623,19937977,19965935,19967439,20036336,20061032,20182055,20379614,20427670,20435087,20472376,20497232,20526724,7514177,7556068,9553078,20371257,20800603,20978455,21035784,21041608,10597312,20374152,20218976,20227043,8096067,1348215,1350381,15073182,17432114,15155732,10559227,16412517,19521112,19394386,19367584,19367581,19350564,19339916,19328558,19269083,19229203,19199244,19196962,19184335,19156152,19150438,19148499,19127563,19086053,19058791,19054571,18806920,18799465,18798975,18728681,18714568,18704261,18668031,18609428,18606232,18585932,18584117,18571900,18543275,18516516,18497096,18494554,18494263,18470533,18466881,18466879,18455369,18455303,18395550,18291420,18286587,18282690,18255317,18234478,18198266,18193072,18180429,18159252,18032396,17962208,17941827,17925794,17903296,17901998,17884806,17652086,17631867,17598910,17565985,17562386,17519028,17503451,17499242,17447867,17408693,17405926,17366345,17336946,17300918,17275115,17214955,17072305,17033632,16940976,16891421,16868568,16867224,16825199,16767099,16730337,16690615,16687441,16638076,16618933,16526041,16520822,16483744,16470843,16446404,16442083,16428439,16344560,16326006,16287046,16249994,16219118,16219117,16189508,16158055,16155362,16082692,15939841,15897877,15703820,15645137,15609326,15584912,15545978,15538186,15527969,15498868,15494726,15489334,15466169,15326116,15303101,15276238,15248869,15219675,15197397,15162166,15159416,15007393,14966480,14729827,14702039,14699424,14647391,14632199,14569272,12874607,12808428,12800145,12768307,12646923,12600989,12556556,12528817,12509456,17602072,12478479,12477932,12471041,12204892,12145742,12082616,11896060,11555649,11116142,10585499,10537356,10523851,9685409,9565587,9373149,9342050,9333014,9168114,8702572,8325659,8125298,8095334,8062828,7903175,7876250,7782315,7730382,7721889,7689552,7592681,7509448,9168115,20215529,19913121,20520724,20628086,20638435,20671236,20582876,20682778,20921115,20736300 1580810,1581606,2317965 3084 NM_013962,NM_013960,NM_013964,NM_013956,NM_013957,NM_013958,NM_004495,NM_013959,NG_012005,NM_001159995,NM_001159996,NM_001159999,NM_001160001,NM_001160002,NM_001160004,NM_001160005,NM_001160007,NM_001160008,AC021909,AC022833,AC022850,AC023948,AC068359,AC068931,AC083977,AC103675,AC104000,AC104029,AC113209,AF491780,BK000383,CH471080,AB451331,AB451475,AF026146,AK097005,AK223435,AK289927,AK290730,AK293240,AK293270,AK298132,AY207002,BC006492,BC007675,BC064587,BC073871,BC144446,BC150609,BQ018711,BT007389,CR450288,CR594949,DA805080,DC425692,EF372273,EF372274,EF372275,EF372276,EF372277,EF517295,EF517296,EF517297,EU359055,EU363508,EU363509,EU363510,L12260,L12261,L41827,M94165,M94166,M94167,M94168,S68256,U02325,U02326,U02327,U02328,U02329,U02330,GQ983557,GQ983558,AF176921 NP_039256,NP_039254,NP_039258,NP_039250,NP_039251,NP_039252,NP_004486,NP_039253,NP_001153467,NP_001153468,NP_001153471,NP_001153473,NP_001153474,NP_001153476,NP_001153477,NP_001153479,NP_001153480,AAM71137,AAM71139,AAM71140,DAA00040,DAA00041,DAA00042,DAA00043,DAA00044,DAA00045,DAA00046,DAA00047,DAA00048,EAW63407,EAW63408,EAW63409,EAW63410,EAW63411,EAW63412,EAW63413,EAW63414,EAW63415,EAW63416,EAW63417,EAW63418,EAW63419,BAG70145,BAG70289,AAD01795,BAD97155,BAF82616,BAF83419,BAH11473,BAH11479,BAH12729,AAO49724,AAH06492,AAH07675,AAH64587,AAH73871,AAI50610,AAP36053,CAG29284,ABQ53539,ABQ53540,ABQ53541,ABQ53542,ABQ53543,ABR13842,ABR13843,ABR13844,ABY70644,ABY66348,ABY66349,ABY66350,AAB59622,AAB59358,AAC41764,AAA58638,AAA58639,AAA58640,AAA58641,AAA19950,AAA19951,AAA19952,AAA19953,AAA19954,AAA19955,Q02297,Q53F54,Q6ICV5,Q6PK61,Q7RTV8,Q7RTW3,Q7RTW4,Q7RTW5,Q86WJ0,Q96IB3,ADN85612,ADN85613,AAQ13665,Q7Z2R7 Hs.453951,Hs.668810 ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|NDF|SMDF MSTP131|glial growth factor|heregulin, alpha (45kD, ERBB2 p185-activator)|neu differentiation factor|neuregulin 1 type IV beta 1a|neuregulin 1 type IV beta 3|pro-NRG1|pro-neuregulin-1, membrane-bound isoform|sensory and motor neuron derived factor protein-coding 1606028 NRG2 neuregulin 2 Neuregulin 2 (NRG2) is a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the Erbb family of receptors, NRG2 induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1 (NRG1), another member of the neuregulin family of ligands. NRG1 and NRG2 mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. The gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcripts encoding distinct isoforms have been described. [provided by RefSeq] 2317965,1304015 16344560,9168114,9168115,19086053,17962208,17945187,17598910,17563728,15961242,14722120,12477932,10974560,10369162,9417904,9348101,9199335 2317965,1304015 9542 AI271427,DA090538,NM_001184935,NM_013981,NM_013983,NM_004883,NM_013982,AC008523,AC008667,AC010292,AC011379,AC094080,AF119157,AF119158,AF119162,CH471062,AB005060,AK124504,BC103983,BC103984,BC114333,BC114334,U92987 NP_001171864,NP_053584,NP_053586,NP_004874,NP_053585,AAF28853,AAF28852,AAF28848,AAF28849,AAF28850,AAF28851,EAW62078,EAW62080,EAW62081,EAW62082,EAW62083,EAW62084,EAW62085,EAW62086,EAW62087,BAA23417,BAG54044,AAI03984,AAI03985,AAI14334,AAI14335,O14511,Q3MI86,AAI66615 Hs.408515 DON1|Don-1|HRG2|NTAK OTTHUMP00000198728|divergent of neuregulin-1|neural- and thymus-derived activator for ErbB kinases|pro-NRG2|pro-neuregulin-2, membrane-bound isoform protein-coding 1317640 NRG3 neuregulin 3 Neuregulins are a family of growth and differentiation factors that are related to epidermal growth factor (EGF; MIM 131530). For general information on the neuregulin gene family, see NRG2 (MIM 603818).[supplied by OMIM] 2317965 9275162,19118813,19086053,18846501,18708184,18521091,18519826,17962208,17880691,17598910,16478787,15164054,14702039,12477932,11032326,19913121,20628086,20713722,16344560,19776380,20379614,20398908,20548296 2317965 10718 BC136811,CR617978,DQ001411,DQ338459,DQ857894,AC010157,AL096705,AL096706,AL096863,AL096864,AL136085,AL354749,AL356129,AL358552,AL391478,AL513204,AL513316,AL589782,CH471142,AK098823,AK122886,AK296563,NM_001010848,AA704915,BC143665,DB326565,NG_013373,NM_001165972,NM_001165973,HM068873,HM068874,HM068875,HM068876,HM068877,HM068878,HM068879,HM068880,HM068881,HM068883,HM068884,HM068885,HM068882 AAI36812,AAY17216,ABC69293,ABG77979,P56975,Q2LC36,NP_001010848,CAI22410,CAH71050,CAH70641,CAI15622,CAH73645,CAI17213,EAW80374,BAG53780,BAG59183,NP_001159444,NP_001159445,ADK90020,ADK90021,ADK90022,ADK90023,ADK90024,ADK90025,ADK90026,ADK90027,ADK90028,ADK90030,ADK90031,ADK90032,ADK90029 Hs.125119 HRG3|pro-NRG3 neuregulin 3 variant 1|neuregulin 3 variant 10|neuregulin 3 variant 11|neuregulin 3 variant 12|neuregulin 3 variant 13|neuregulin 3 variant 14|neuregulin 3 variant 3|neuregulin 3 variant 4|neuregulin 3 variant 5|neuregulin 3 variant 6|neuregulin 3 variant 7|neuregulin 3 variant 8|neuregulin 3 variant 9|neuregulin-3-like polypeptide|pro-neuregulin-3, membrane-bound isoform protein-coding 1606150 NRG4 neuregulin 4 The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM] 2317965 19913121,20628086,17207965,17962208,17684490,17545517,15583696,15489334,12477932,10348342 2317965 145957 NM_138573,AC027104,AC087456,CH471136,AK307362,AK311204,AK311507,AM392364,AM392365,AM392366,BC017568,BX538100,CR749519 NP_612640,EAW99227,EAW99228,CAL35829,CAL35830,CAL35831,AAH17568,CAD98015,CAH18333,Q0P6N4,Q0P6N5,Q0P6N6,Q68D87,Q7Z663,Q8WWG1,ADQ33202 Hs.696574 DKFZp779N0541|DKFZp779N1944|HRG4 heregulin 4|pro-NRG4|pro-neuregulin-4, membrane-bound isoform protein-coding 733655 NRGN neurogranin (protein kinase C substrate, RC3) Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq] 1580863 21037240,10075657,17244347,17140601,16677608,15489334,12889141,12808095,12477932,11060308,9886843,9499372,9143500,8929222,8080473,7898318,18855024,19571808 4900 NM_001126181,NM_006176,AJ317956,AP000866,CH471065,X99075,X99076,Y15058,Y15059,BC002835,BM923818,BT007325,DB474181,U89165,Y09689 NP_001119653,NP_006167,CAC37631,EAW67593,EAW67594,CAA67532,CAA67533,CAA75343,AAH02835,AAP35989,AAB49458,CAA70867,Q92686 Hs.524116 RC3|hng calmodulin-binding protein|neurogranin|ng|protein kinase C substrate protein-coding 1323522 NRIP1 nuclear receptor interacting protein 1 Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq] 1580863 10531331,11278635,15001550,15604093,16713569,17053781,18374649,19060904,19367438,19401155,19734545,19862326,19887821,19933466,20083575,20200160,20379614,20453000,9013766,9368054,11509661,20410059,15572661,7641693,10364267,11266503,12773562,11518808,19093296,19064572,18950845,18660489,18211901,17880687,16527872,16439465,16213843,16131398,15632153,15489334,15060175,14736873,14702039,14581481,12782406,12554755,12549917,12477932,12403842,11459805,11285237,11006275,10830953,10428779,10406462,10022764,9774688,9626662,9556573,9521594,8887632,1266503,9115274,16189514,16009131,9774463 8204 NM_003489,AF127577,AF248484,AL163207,CH471079,AK123818,AK289786,BC040361,BE792046,CR623476,X84373 NP_003480,AAF35255,AAF62185,CAB90396,EAX10047,BAF82475,AAH40361,CAA59108,P48552,ABM82106,ABM85288 Hs.155017 FLJ77253|RIP140 OTTHUMP00000083036|OTTHUMP00000083037|OTTHUMP00000083038|nuclear factor RIP140|nuclear receptor-interacting protein 1|receptor interacting protein 140|receptor-interacting protein 140 protein-coding 1350542 NRIP2 nuclear receptor interacting protein 2 1580863 17075290,16381901,16344560,15489336,15489334,14702039,12477932,11256614,11230166,11076863,10860982 83714 NM_031474,AC005841,CH471116,AK054740,AK098063,AK300944,AL136557,BC036063,BC131562,DA391605 NP_113662,EAW88888,BAG53573,BAG62573,CAB66492,AAH36063,AAI31563,Q9BQI9,CAL37962 Hs.530816 DKFZp761G1913 nuclear receptor-interacting protein 2 protein-coding 1312415 NRIP3 nuclear receptor interacting protein 3 16344560,15489334,14702039,12601173,12477932,11528127,17207965,19454493 56675 NM_020645,AC026894,AC079296,AJ400877,CH471064,AK024750,AK093229,AK098694,AK296484,AY211930,BC008835,DA249943 NP_065696,CAB92286,EAW68604,BAB14984,BAH12370,AAO65183,AAH08835,Q9NQ35,ADQ31903 Hs.523467 C11orf14|NY-SAR-105 nuclear receptor-interacting protein 3|sarcoma antigen NY-SAR-105 protein-coding 1344667 NRK Nik related kinase 1580863 16381901,15772651,15489336,15489334,14702039,12837278,12477932,11230166,11076863 203447 NG_021425,NM_198465,CH471120,Z68339,Z69734,Z70274,Z83850,Z97356,AK131549,AK293500,AK300377,BC108702,BX538345 NP_940867,EAX02749,EAX02750,EAX02751,BAD18683,BAH11523,BAH13273,AAI08703,CAD98108,Q7Z2Y5,CAL37778,CAL38221,AAI72241,AAI72556 Hs.209527 DKFZp686A17109|FLJ16788|MGC131849|NESK nik-related protein kinase protein-coding 1313083 NRL neural retina leucine zipper This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq] 1580991,1580863 20551322,16880509,20801516,12107411,11879142,11477108,10887186,10192380,9344665,12552256,12477932,1427865,9390516,8939891,1729696,17335001,16854989,15591106,15489334,15459973,15328344,15001570,12796249,12566383,19933183 1580991 4901 NM_006177,NG_011697,AL136295,CH471078,U95012,BC012395,BT006942,BX161381,BX161522,CR593888,M81840,M95925 NP_006168,EAW66116,AAB82768,AAH12395,AAP35588,CAD61873,CAD61954,AAA59948,AAA96828,P54845,Q53XD0 Hs.652297 D14S46E|NRL-MAF|RP27 OTTHUMP00000164707|neural retina-specific leucine zipper protein|neural retinal-specific leucine zipper protein-coding 1352240 NRM nurim (nuclear envelope membrane protein) 1304479 19913121,20628086,10402458,17517639,16702430,16303743,15542857,12975309,12477932,17207965,19851445 1304479 11270 CR619257,CR623441,CR618359,CR592223,CR596567,CR597197,CR604044,CR604619,CR606826,CR608026,CR609683,CR614897,CR616786,NM_007243,AB110935,AB110936,AB202096,AL662797,AL732442,AL845353,BX908728,CH471081,CR759873,CR788240,CR936878,AF143676,AK075509,AK298152,AK315190,AY358411,BC004509,BC021260,BC039865 Q8IXM6,AAH39865,NP_009174,BAD13701,BAD13702,BAE78616,CAI18193,CAI17763,CAI41884,CAI41885,CAQ07428,CAQ07429,EAX03320,CAQ08687,CAQ08688,CAQ07568,CAQ07569,CAQ06810,CAQ06811,AAD45885,BAG52158,BAG60428,BAG37630,AAQ88777,AAH04509,AAH21260,ADQ32972 Hs.519993 NRM29 OTTHUMP00000029332|nuclear envelope membrane protein|nuclear rim protein|nurim protein-coding 1351872 NRN1 neuritin 1 This gene is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. In vitro assays demonstrated that this protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. 633434 18265009,16723126,15489334,14702039,14574404,12477932,9122250,19569075 633434 51299 NM_016588,AL136307,CH471087,AF114833,AF136631,AJ420483,AK093824,AK314095,AL541038,BC002683,BC042019,CR591192,CR610397,CR610504,CR613189,CR614740,CR615533,CR620311,CR624108 NP_057672,CAC00777,EAW55183,EAW55184,AAP97232,AAF62371,BAG36790,AAH02683,AAH42019,Q9NPD7 Hs.103291 MGC44811|NRN|dJ380B8.2 neuritin protein-coding 1605881 NRN1L neuritin 1-like 12975309,12477932,18265009 123904 NM_198443,AC040162,CH471092,AY358782,BC100863,BC100864,BC100865,BC100866 AAQ89142,NP_940845,EAW83184,AAI00864,AAI00865,AAI00866,AAI00867,Q496H8 Hs.435464 MGC118990|MGC118993|UNQ2446 MRCC2446|neuritin-like protein protein-coding 733081 NRP1 neuropilin 1 NRP1 is a membrane-bound coreceptor to a tyrosine kinase receptor for both vascular endothelial growth factor (VEGF; MIM 192240) and semaphorin (see SEMA3A; MIM 603961) family members. NRP1 plays versatile roles in angiogenesis, axon guidance, cell survival, migration, and invasion.[supplied by OMIM] 1334463,2313725,2298727,1581611,1580863 20675371,17222790,9288753,9529250,19499532,19486891,19364973,19270265,19086053,19054571,19037249,18984674,18974107,18922901,18785001,18708346,18704117,18638267,18628209,18403014,18284215,18272814,18231921,18223683,18164591,18065694,18000534,17974973,17917967,17891484,17726369,17575273,17376520,17369861,17369353,17088944,17015762,16990775,16849452,16847823,16809290,16763549,16648151,16513643,16424390,16371354,16344560,16335952,16330548,15956974,15920019,15695515,15613413,15522955,15489334,15233640,15166498,15161648,15160992,15126502,14760080,14514674,14500350,12883660,12730958,12577308,12517344,12477932,12216067,11986311,11976715,11953749,11807987,11333271,11256614,11166270,11112349,10842181,10748121,10688880,10520995,10520994,10414980,20950431,10409677,10329017,10196546,9883722,9856463,9331348,14600159,15550623,15239958,12456642,20026901,20588308,20631636,11604131,15978582,16385451,18088455,18996601,19474288,19480842,19736548,19805273,19837659,19857463,20043119,20053475,20085644,20201926,20215856 1334463,2313725,2298727,1581611 8829 BX648025,BX648250,CR593940,CR749333,DA702852,EU332859,NM_003873,NM_001024629,NM_001024628,AF280548,AF280549,AF280550,AF280551,AF482431,AL121748,AL353600,CH471072,AA973607,AB209641,AF016050,AF018956,AF086016,AF145712,AF268691,AF280547,AK292822,AL698999,AL833608,AY249243,BC007533,BC007737,BT006995,BX510902 CAH10373,CAH18187,O14786,Q59F20,Q5JWQ1,Q5JWQ2,Q5JWQ5,Q5JWQ6,Q5T7F0,Q5T7F1,Q68DN3,Q6AWA9,Q6X907,Q71SW6,Q7Z5M2,Q96I90,Q9H2D7,Q9H2D8,Q9H2D9,Q9H2E0,Q9H2E1,ACE87254,ACE86571,ABY87548,NP_003864,NP_001019800,NP_001019799,AAG41893,AAG41894,AAG41895,AAG41896,AAP78927,CAI40248,CAI40249,CAI40250,CAI40251,CAI40252,CAI40253,CAI40254,CAI40255,CAI40256,CAI40257,CAI16997,CAI16998,CAI16999,CAI17000,EAW85942,EAW85943,EAW85944,EAW85945,BAD92878,AAC12921,AAC51759,AAF44344,AAQ14300,AAG41406,BAF85511,CAH10397,AAP80144,AAH07533,AAH07737,AAP35641,CAD91133,Q5JWQ4 Hs.131704,Hs.653996 BDCA4|CD304|DKFZp686A03134|DKFZp781F1414|NP1|NRP|VEGF165R OTTHUMP00000020818|OTTHUMP00000020819|neuropilin|neuropilin-1|transmembrane receptor|vascular endothelial cell growth factor 165 receptor protein-coding 732191 NRP2 neuropilin 2 This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 10520995,10329017,10196546,9883722,9872925,9856463,15550623,20548225,20488940,20651020,9288754,9331348,11278319,19409892,19088020,19037249,18785001,18781179,18708346,18564921,18307536,18182619,18065694,17917967,17891484,17699524,17427189,17088944,16816121,16621967,15613413,14760080,14702039,12845630,12730958,12659673,12632379,12477932,12412174,12210066,11815985,11756651,11677062,11394892,11112349,10891538,10748121,19474288,19480842,19580679,19736548,19790074,19855168 8828 NM_003872,NM_201279,NM_018534,NM_201267,NM_201264,AC007362,AC007561,AF281074,CH471063,AF016098,AF022859,AF022860,AF280544,AF280545,AF280546,NM_201266,AK057705,AK130198,AK290934,AK307367,AK307616,AL833606,BC009222,BC018631,BC101525,BC104770,BC117413,BC143237,BC143238,BC143608,BX537423,BX648292 NP_957718,NP_003863,NP_958436,NP_061004,NP_957719,NP_957716,AAX93216,AAY14875,AAG41897,AAG41898,AAG41899,AAG41900,EAW70362,EAW70363,EAW70364,EAW70365,EAW70366,EAW70367,EAW70368,EAW70369,EAW70370,EAW70371,EAW70372,EAW70373,AAC12922,AAC51788,AAC51789,AAG41403,AAG41404,AAG41405,BAF83623,AAH09222,AAI01526,AAI04771,AAI17414,AAI43239,AAI43609,CAD97665,O60462,Q7LBX6,Q7LBX7,Q7Z3T9,Q96GU8,Q9H2D4,Q9H2D5,Q9H2E2,Q9H2E3,Q9H2E4,Q9P154,ADR83417 Hs.471200 MGC126574|NP2|NPN2|PRO2714|VEGF165R2 OTTHUMP00000206355|neuropilin-2|neuropilin-2a(17)|neuropilin-2a(22)|neuropilin-2b(0)|receptor for VEGF165 and semaphorins class3|vascular endothelial cell growth factor 165 receptor 2|vascular endothelial growth factor-165 receptor 2 protein-coding 1317257 NRSN1 neurensin 1 20807314,21130836,20379614,12463420,15489334,14702039,14574404,12477932,9373149,8125298,1870127 140767 NM_080723,AL139388,AL445196,AL591343,CH471087,AF418980,AK096290,AK225775,AK314373,AL833257,BC023514,BC067291,DB552652,DB553646 NP_542454,CAH71785,CAH71786,CAH71787,EAW55438,EAW55439,AAL14639,BAC04748,BAG37001,AAH23514,Q5VTS0,Q8IZ57,ABM84321,ABM87716,ACE87556,ACE86868 Hs.726270 VMP|p24 neurensin-1|neuro-p24|vesicular membrain protein p24|vesicular membrane protein of 24 kDa|vesicular membrane protein p24 protein-coding 1313267 NRSN2 neurensin 2 11256614,16527258,16381901,15489336,15489334,14702039,12477932,11780052,11230166,11076863,16169070,16344560,19824122 80023 NM_024958,AL034548,CH471133,AK026982,AK290527,AL136915,BC001963,CR533441,CR599413,CR608694,CR612829,AW292804,BE792891,DA708181 CAL38253,NP_079234,CAI19176,EAX10679,EAX10680,BAB15613,BAF83216,CAB66849,AAH01963,CAG38472,Q9GZP1 Hs.416024 C20orf98|FLJ23329|dJ1103G7.6 OTTHUMP00000029911|chromosome 20 open reading frame 98|neurensin-2 protein-coding 731950 NRTN neurturin Neurturin is a member of the TGF-beta subfamily, TRN. This gene signals through RET and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq] 1580863,1600267 21203500,8945474,15242795,9286710,18970938,18222320,17522305,16895582,16081799,15829225,12397373,11790765,10829012,9700200,9407096,9192899,9192898,12477932 1600267 4902 NM_004558,NG_008202,AC011499,AC024592,CH471139,AL161995,BC137399,BC137400,U78110 NP_004549,EAW69140,CAB82327,AAI37400,AAI37401,AAC50898,Q99748 Hs.234775 NTN neurturin protein-coding 734185 NRXN1 neurexin 1 Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. Most transcripts use the upstream promoter and encode alpha-neurexin isoforms; fewer transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and they interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. The RefSeq Project has decided to create only a few representative transcript variants of the multitude that are possible. [provided by RefSeq] 632385,1580863,633988 11152476,1621094,19197363,19086053,18945720,18940311,18490107,18270208,18179900,17989066,17158188,16344560,15815621,15797875,15684424,14702039,14522992,12477932,12421765,12168954,12036300,11944992,11243866,11171101,11036064,9921901,9856994,9628581,9448462,9325340,8901523,8786425,8699246,8576240,9707552,20860064,20967226,20543817,20421335,20691247,20162629,19557195,19658047,19675094,19734545,19736351,19880096,19896112,20113834,20157312,20201926,20347009,20379614,20414139,20468056 632385,633988 9378 AC007560,AC007682,AC009234,AC068715,AC068725,AC069550,AC078994,CH471053,AB011150,AB035356,AF064842,AF087975,AK093260,AK124726,AK295773,BC046631,BC125179,BC125180,BC150247,BM021375,BX647616,DA153976,DA168874,DA320230,EF539882,NM_004801,NM_001135659,NM_138735,NG_011878,AC007462 AAF03536,AAY14894,AAY14944,AAG59642,AAG59602,AAG38120,AAK06387,EAX00182,EAX00183,EAX00184,EAX00185,EAX00186,BAA25504,BAA87821,BAG58597,AAH46631,AAI25180,AAI25181,AAI50248,CAI46085,ABS86974,P58400,Q08AH0,Q49A31,Q5HYI0,Q9ULB1,NP_004792,NP_001129131,NP_620072 Hs.637685 DKFZp313P2036|FLJ35941|Hs.22998|KIAA0578|PTHSL2 OTTHUMP00000200525|OTTHUMP00000201119|OTTHUMP00000201211|neurexin I|neurexin I-alpha|neurexin I-beta|neurexin-1-alpha|neurexin-1-beta protein-coding 735900 NRXN2 neurexin 2 Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. [provided by RefSeq] 1580863 19086053,18950845,16554811,15491607,14702039,12421765,12168954,12036300,11944992,10231032,9888998,9707552,9647694,8786425,8576240,1621094,20634891,16169070 9379 NM_138732,NM_015080,NM_138734,AC044790,AP001092,AP001462,CH471076,AB023138,AB035266,AB177862,AK098211,BC150275 NP_620060,NP_055895,NP_620063,AAK68154,EAW74277,EAW74278,EAW74279,EAW74280,BAA76765,BAA94075,BAD66840,AAI50276,P58401,Q5W9F7,Q9P2S2 Hs.372938 FLJ40892|KIAA0921 OTTHUMP00000042666|OTTHUMP00000202846|neurexin II|neurexin II-alpha|neurexin II-beta|neurexin-2-alpha|neurexin-2-beta protein-coding 1353595 NRXN3 neurexin 3 Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. [provided by RefSeq] 1580863 1621094,19086053,18978678,18519826,18029348,17804423,17081983,16344560,14702039,12508121,12477932,12379233,12036300,11944992,9872452,9707552,9628581,8786425,8576240,20703240,19658047,20379614,20398908,19557197,20935630,20724581 9369 NM_004796,NM_001105250,NM_138970,AC007056,AC007058,AC008045,AC008056,AC009396,AC011440,AC012099,AC018514,AC022469,AC026888,AF099810,AF123462,CH471061,AB018286,AJ316284,AJ493127,AK056530,AK310235,AL833739,BC059368,BC068469,BC142649,BC150194,BC152457,DA124460,DA128446,DA243312 NP_004787,NP_001098720,NP_620426,AAD41968,AAF28465,AAF09143,AAF21147,AAF61277,AAF15058,AAF99808,AAF87841,AAD13621,EAW81312,EAW81313,EAW81314,EAW81315,EAW81316,EAW81317,EAW81318,BAA34463,CAC87720,CAD37989,BAG51739,CAH56254,AAH59368,AAH68469,AAI42650,AAI50195,AAI52458,Q8IUE3,Q9HDB5,Q9Y4C0,Q9Y6S3,AAC68909 Hs.368307 C14orf60|KIAA0743|MGC176711 neurexin III|neurexin III-alpha|neurexin III-beta|neurexin-3-beta protein-coding 1318685 NSBP1 nucleosomal binding protein 1 1580863 11161810,18029348,16344560,15592455,15489334,14702039,12477932,19748358,20123071 79366 NM_030763,AF250330,AL391294,CH471104,AF250329,AK094058,AK315792,BC005342,CR602524,DA745749,AL357115,AL590810,NG_013234 AAK14063,NP_110390,CAI39707,CAI39708,CAI39709,CAI39710,CAI39711,CAI39712,EAW98582,AAK14062,BAG38137,AAH05342,P82970,Q5JSK6,Q5JSK7,Q5JSK8,Q5JSK9,Q5JSL0,ABZ92517 Hs.282204 NBP-45|NSBP1 OTTHUMP00000023610|OTTHUMP00000023611|OTTHUMP00000023612|OTTHUMP00000023613|OTTHUMP00000023614|high mobility group nucleosome-binding domain-containing protein 5|nucleosomal binding protein 1|nucleosome-binding protein 1 protein-coding 1317121 NSD1 nuclear receptor binding SET domain protein 1 This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 11509567,19039236,18001468,17589499,17565729,17561922,17437319,16780628,16010675,15942875,15742365,15640245,15623156,15580547,15539801,15382262,15365454,15362962,15169884,15146197,14997421,14702039,12931227,12807965,12687502,12676901,12525543,12464997,11896389,11733144,11493482,11266437,9628876,8889548,20837538,12477932,19545651,19596467,19876911,20080798,20420030 64324 NM_172349,NM_022455,NG_009821,AC008570,AC027314,AC146507,CH471195,AF085858,AF322907,AF380302,AF395588,CN333750,CK300021,AK001546,AK025916,AK026066,AK055187,AK056667,AK091358,AK126591,AL832983,AY049721,BC021961,BC139789,BC144629,BC150628 NP_758859,NP_071900,EAW85031,EAW85032,EAW85033,AAK92049,AAL27991,Q658U6,Q6PJ64,Q8NB95,Q96DQ7,Q96L73,Q96MN8,Q9H6B5,Q9H6H8,AAL40694,BAB15281,BAB15346,BAB70868,BAB71247,BAC03645,CAH56331,AAL06645,AAH21961,AAI39790,AAI50629 Hs.106861 ARA267|DKFZp666C163|FLJ10684|FLJ22263|FLJ44628|KMT3B|SOTOS|STO H3-K36-HMTase|H4-K20-HMTase|NR-binding SET domain-containing protein|OTTHUMP00000161432|androgen receptor coactivator 267 kDa protein|androgen receptor-associated coregulator 267|androgen receptor-associated protein of 267 kDa|histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific|lysine N-methyltransferase 3B|nuclear receptor-binding SET domain-containing protein 1 protein-coding 1343590 NSDHL NAD(P) dependent steroid dehydrogenase-like The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq] 1580863,2316868,2316857 11907515,11076863,10854409,8828037,8828036,8439729,1602151,21129721,10710235,14506130,11256614,18029348,19027726,18660489,17498944,16381901,16230564,15805545,15489336,15489334,12966526,12837764,12477932,19906044,19880419,20403997 2316868,2316857 50814 NM_001129765,NM_015922,NG_009163,CH471172,AK026549,BC000245,BC007816,CR593268,CR594673,CR609334,CR611612,CR619158,CR625562,CR626623,U47105 NP_001123237,NP_057006,EAW72897,EAW72898,EAW72899,AAH00245,AAH07816,AAC50558,Q15738,CAL38054,CAL38546,ABM83414,ABM86625 Hs.57698 H105E3|SDR31E1|XAP104 OTTHUMP00000025903|protein H105e3|short chain dehydrogenase/reductase family 31E, member 1|sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating protein-coding 733160 NSF N-ethylmaleimide-sensitive factor 1580863 18029348,17353931,19167335,19208619,19086053,18836734,18077426,17510209,16461345,16169070,15858065,15489334,15322554,15293277,14769786,14607937,14567912,12477932,12130635,12011465,11680900,11511104,11461150,11403936,10954749,10903204,10747018,10683148,10196135,9697855,9362506,9349823,9325254,9286697,8973549,8940356,8875895,8636227,8051214,8013662,7622514,1315316,10458612,12554740,16055064,16724110,19533740,19615732,19915575,20176016,20398908,20468064,20711177,16417406,20562859 4905 NM_006178,AC004098,AC138645,AC138688,AC217769,AC217778,AC217780,CH471231,CQ871246,AF102846,AF135168,AK226078,AK290204,AK294001,AK294727,AK294886,AK299031,AK299786,AK316057,BC013314,BC030613,BM451383,DB460965,U03985,U80997,AC217775 NP_006169,EAW57706,EAW57707,CAH56804,AAF04745,AAF70545,BAF82893,BAG57363,BAG57874,BAG57980,BAH12933,BAG61667,BAH14428,AAH13314,AAH30613,AAA17411,AAG23890,P46459,Q96D47,Q9H3V6 Hs.431279 SKD2 N-ethylmaleimide-sensitive factor-like protein|N-ethylmaleimide-sensitive fusion protein|NEM-sensitive fusion protein|vesicle-fusing ATPase|vesicular-fusion protein NSF protein-coding 734170 NSFL1C NSFL1 (p97) cofactor (p47) N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 16275660,19165527,17081983,15489334,15302935,14702039,12810701,12529442,12477932,12473691,12411482,11780052,11042152,10931946,9506515,9373149,9214505,9110174,8125298,16169070,19615732 55968 NM_018839,NM_016143,AL109658,CH471133,AF078856,AF086909,AF112211,NM_182483,AF283774,AK001511,AK023585,AK093845,AK223334,AK223341,AK297403,AK315433,BC002801,BE795675,BQ007132,CR600062,CR604875,CR605903,CR617725 NP_872289,NP_061327,NP_057227,CAB96827,CAI22730,CAI22731,CAM28306,EAX10627,EAX10628,EAX10629,EAX10630,EAX10631,EAX10632,AAD44488,AAP97139,AAF17199,BAA91731,BAG52771,BAD97054,BAD97061,BAG59842,BAG37821,AAH02801,Q53FE8,Q53FF5,Q9UNZ2,ABM84115,ABM87512 Hs.12865 MGC3347|UBX1|UBXD10|UBXN2C|dJ776F14.1|p47 NSFL1 cofactor p47|SHP1 homolog|UBX domain protein 2C|UBX domain-containing protein 2C|p47 protein|p97 cofactor p47 protein-coding 1346608 NSFP N-ethylmaleimide-sensitive factor pseudogene 16344560 404670,728806 AC138645,AC217777,DA240782,NR_033799 Hs.431279 NSFP pseudo 1345295 NSL1 NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 15502821,16585270,17604136,16710414,16565220,16344560,15489334,14702039,12477932,9373149,8125298,17981135,20231385,20379614 25936 NM_015471,NM_001042549,AC104333,AL591647,CH471100,AA806390,AF201941,AF255793,AK092359,AK124596,AK222996,AK223260,AK303250,AK313730,AL050084,BC007067,BC036048,BQ023978,BU570983,CR591975,DB045932 NP_056286,NP_001036014,CAI17046,CAI17047,EAW93379,EAW93380,AAF86877,AAG44640,BAD96716,BAD96980,BAG64333,BAG36472,CAB43260,AAH07067,Q53FM2,Q5SY74,Q96IY1,ABM83825,ABM87148 Hs.497692 C1orf48|DC8|DKFZp566O1646|MIS14 OTTHUMP00000034929|kinetochore-associated protein NSL1 homolog protein-coding 1352100 NSMAF neutral sphingomyelinase (N-SMase) activation associated factor This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants. 1580863 10640829,10601289,9620659,8808629,18653803,15653433,12477932,12391233,19913121,20628086,20562859 8439 NM_003580,NM_001144772,AC068522,AC092700,CH471068,AK292679,AK294009,AK313991,BC041124,CR609002,CR609126,CR610080,DR005814,X96586 NP_003571,NP_001138244,EAW86817,BAF85368,BAG57371,BAG36703,AAH41124,CAA65405,Q92636 Hs.372000 FAN factor associated with N-SMase activation|factor associated with neutral sphingomyelinase activation|protein FAN protein-coding 1350522 NSMCE1 non-SMC element 1 homolog (S. cerevisiae) 737633 15489334,14702039,12477932,11927594,11042152,8889548 737633 197370 NM_145080,AC106739,CH471145,AF161451,AF161455,AK056795,AK315674,BC018938,BU685363,CR589967,CR592550,CR593451,CR598954,CR600880,CR607587,CR620851,CR625772,DB463393 NP_659547,EAW55754,EAW55755,EAW55756,EAW55757,EAW55758,AAF29011,AAF29015,BAG38039,AAH18938,Q8WV22 Hs.284295 NSE1 non-structural maintenance of chromosomes element 1 homolog protein-coding 1606915 NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae) 20339536,18163389,16810316,16055714,15489334,14702039,12477932,19549807,19666737,20379614,20460480,19502785,17207965 286053 NM_173685,AC084083,AC126366,CH471060,AA580621,AK057002,BC032797,CB217595,CR620646 NP_775956,EAW92083,EAW92084,BAB71338,AAH32797,Q96MF7,ADQ31599 Hs.388297 C8orf36|FLJ32440|MMS21|NSE2 E3 SUMO-protein ligase NSE2|MMS21 homolog|hMMS21|methyl methanesulfonate sensitivity gene 21|non-SMC element 2 homolog|non-structural maintenance of chromosomes element 2 homolog protein-coding 1319136 NSMCE4A non-SMC element 4 homolog A (S. cerevisiae) 737633 15752197,15498874,15489334,15164054,14702039,12477932,9373149,8125298,16344560 737633 54780 NM_017615,AL731566,CH471066,AF258584,AK000010,AK056579,AK222487,AK301658,AK308687,BC005212,BC062427,CR618574,CR623553,DA567626,NM_001167865 NP_060085,CAI14816,CAI14817,EAW49330,EAW49331,EAW49332,EAW49333,AAG23787,BAA90881,BAD96207,BAG63134,AAH05212,AAH62427,Q9NXX6,NP_001161337 Hs.258798 C10orf86|FLJ20003|NSE4A|RP11-500G22.3|bA500G22|bA500G22.3 chromosome 10 open reading frame 86|non-structural maintenance of chromosomes element 4 homolog A protein-coding 1348039 NSUN2 NOL1/NOP2/Sun domain family, member 2 Maturation of cytoplasmic tRNAs includes splicing of introns, which are located 1 nucleotide 3-prime from the anticodon in all intron-containing tRNA genes. In tRNA-leu(CAA), the first position of the anticodon, C34, is converted to 5-methylcytosine, a modification necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. NSUN2 encodes a methyltransferase that catalyzes the intron-dependent formation of 5-methylcytosine at C34 of tRNA-leu(CAA) (Brzezicha et al., 2006 [PubMed 17071714]).[supplied by OMIM] 737633 17071714,17215513,15345747,15302935,14702039,12477932,19913121,20628086,17148452,19596847,19740597,20379614 737633 54888 BF000644,BG387061,NM_001193455,NM_017755,AC010366,AC027334,CH471102,AB255451,AK000310,AK023994,AK055456,AK291144,AK298980,BC001041,BC137083,BQ689094,CR619211 NP_001180384,NP_060225,EAX08105,EAX08106,EAX08107,BAF34150,BAA91075,BAB14762,BAG51521,BAF83833,BAG61074,AAH01041,AAI37084,Q08J23 Hs.481526 FLJ20303|MISU|SAKI|TRM4 5-methycytoisine methyltransferase|Myc-induced SUN-domain-containing protein|NOL1/NOP2/Sun domain family 2|NOL1/NOP2/Sun domain family member 2|NOL1/NOP2/Sun domain family, member 2|OTTHUMP00000220641|hTrm4|substrate of AIM1/Aurora kinase B|tRNA (cytosine-5-)-methyltransferase NSUN2|tRNA methyltransferase 4 homolog protein-coding 1351028 NSUN3 NOL1/NOP2/Sun domain family, member 3 737633 19240061,12477932,17207965 737633 63899 NM_022072,AC019233,AC130896,CH471052,AF169972,AK026262,BC018432,BC020602,BC057238,CR594640 NP_071355,EAW79893,EAW79894,AAQ13600,BAB15417,AAH20602,AAH57238,Q9H649,ADQ32107 Hs.448003 FLJ22109|FLJ22609|MST077|MSTP077 NOL1/NOP2/Sun domain family 3|NOL1/NOP2/Sun domain family member 3|NOL1/NOP2/Sun domain family, member 3|putative methyltransferase NSUN3 protein-coding 1343230 NSUN4 NOL1/NOP2/Sun domain family, member 4 19086053,16189514,14702039,12477932,20562859 387338 NM_199044,AL122001,CH471059,AK021577,AK057420,AK097524,AK128066,AK291741,AK292353,AK295003,BC014441,BC016907,BE542166,BM153143,BM888153,BM994678,BU536211,BX360729,BX648592,CR620787,CR624794,CR625030 NP_950245,CAI21962,EAX06920,BAB13847,BAG51912,BAC87258,BAF84430,BAF85042,BAG58065,AAH14441,AAH16907,Q6ZRQ1,Q96CB9,BAG53482 Hs.163424 MGC22960|RP4-603I14.2 NOL1/NOP2/Sun domain family 4|NOL1/NOP2/Sun domain family member 4|NOL1/NOP2/Sun domain family, member 4|putative methyltransferase NSUN4 protein-coding 1319518 NSUN5 NOL1/NOP2/Sun domain family, member 5 This gene encodes a protein with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen that is a member of an evolutionarily conserved protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 15489334,15302935,14702039,12853948,12477932,12073013,11978965,11124703,9847074,16712791,15146197 55695 NM_018044,NM_148956,AC073841,CH471200,CS072322,AF412028,AF420249,AK001129,AK098619,AK125667,AK126375,AK298221,AK315361,BC008084,CB154882,CN418523,NM_001168347,NM_001168348 NP_060514,NP_683759,AAQ96838,AAQ96839,EAW69692,EAW69695,CAI93460,AAM62310,AAL16067,BAA91515,BAG54316,BAG60491,BAG37756,AAH08084,Q96P11,ABM83920,ABM87241,EAW69694,EAW69696,NP_001161819,NP_001161820 Hs.647060 FLJ10267|MGC986|NOL1|NOL1R|NSUN5A|WBSCR20|WBSCR20A|Ynl022cL|p120 NOL1-related protein|NOL1/NOP2/Sun domain family member 5|NOL1/NOP2/Sun domain family, member 5|NOP2/Sun domain family, member 5A|OTTHUMP00000210653|Williams Beuren syndrome chromosome region 20A|Williams-Beuren syndrome critical region protein 20 copy A|putative methyltransferase NSUN5|williams beuren syndrome chromosome region 20a|williams-Beuren syndrome chromosomal region 20A protein protein-coding 1604983 NSUN5B NOL1/NOP2/Sun domain family, member 5B This gene shares high sequence similarity with the genes WBSCR20A and WBSCR20C; these three genes are the products of gene duplication during evolution. The protein encoded by this gene is smaller than the proteins encoded by WBSCR20A and WBSCR20C. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 15489334,14702039,12477932,12073013,11978965 155400 AC006014,AF416610,AK094312,AK126486,AK128374,BC044928,BC065512,BC080602,BC088379,BC093978,BC103750,BC107112,BG741008,BM456741,BX646027,NR_033322 AAM62318,BAG52857,BAG54336,BAG54668,AAH93978,AAI07113,Q3KNT7 Hs.436034,Hs.510927 FLJ99347|MGC129801|NSUN5B|WBSCR20B pseudo 1606412 NSUN5C NOL1/NOP2/Sun domain family, member 5C This gene shares high sequence similarity with several genes in the Williams Beuren Syndrome critical region and its deletion is associated with this disorder. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 16344560,15489334,14702039,12477932,12073013,11978965 260294 DA017627,NR_033323,AC005488,AF416611,AF420250,AK021688,AK292107,AK303622,AK315927,AL117583,AL833016,BC066297,BC082753,BC093976,BC101515,BC106049,BC107111,CR601630,CR621627,BC007488,BC050591,BC056405 AAM62319,AAL16068,BAB13875,BAF84796,BAG64631,BAH14298,CAH56289,AAH82753,AAH93976,AAI01516,AAI06050,AAI07112,Q3KNT8,Q63ZY6,AAH56405 Hs.436034,Hs.510927 DKFZp434K058|DKFZp666P104|FLJ11626|MGC129801|MGC15057|NOL1R2|NSUN5C|WBSCR20B|WBSCR20C pseudo 1344487 NSUN6 NOL1/NOP2/Sun domain family, member 6 1580863 15489334,15164054,14702039,12477932,21044367,17207965,20379614 221078 NM_182543,AL450384,AL512641,CH471072,AK074323,BC035778,BF434081,CR617827,EF445003 NP_872349,CAH73205,CAH70493,EAW86191,EAW86192,BAB85051,AAH35778,Q8TEA1,ADQ31757,ACA06032,ACA06033 Hs.396175 4933414E04Rik|FLJ23743|NOPD1 NOL1/NOP2/Sun and PUA domain-containing protein 1|NOL1/NOP2/Sun domain family 6|NOL1/NOP2/Sun domain family member 6|NOL1/NOP2/Sun domain family, member 6|nucleolar protein (NOL1/NOP2/sun) and PUA domains 1|putative methyltransferase NSUN6 protein-coding 1602865 NSUN7 NOL1/NOP2/Sun domain family, member 7 17442852,14702039,12477932,17207965 79730 NM_024677,AC131953,CH471069,AK024063,AK094298,AK304048,BC036568,BC042401 NP_078953,EAW92970,EAW92971,EAW92972,EAW92973,BAB14808,BAC04325,BAG64958,AAH36568,Q8NE18,ADQ32516 Hs.570821 FLJ14001 NOL1/NOP2/Sun domain family member 7|NOL1/NOP2/Sun domain family, member 7|putative methyltransferase NSUN7 protein-coding 1349612 NSX N syndrome (mental retardation, malformations, chromosome breakage) 4906 1349655 NT3 3'-nucleotidase 4877 1353894 NT5C 5', 3'-nucleotidase, cytosolic Pyrimidine 5-prime nucleotidase (P5N; EC 3.1.3.5), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates UMP and CMP to the corresponding nucleosides. There are 2 isozymes of pyrimidine 5-prime nucleotidase in red blood cells, referred to as type I (UMPH1; MIM 606224) and type II (UMPH2).[supplied by OMIM] 1580863 2157703,10681516,15489334,15136231,14702039,12714505,12477932,12418222,12234672,10899995,3186746,2833155,17207965,20877624,18029348 30833 NM_014595,AC022211,BK000192,CH471099,AF154829,AK000419,BC002516,BC008183,BC017454,BC022334,BC047763 NP_055410,DAA00070,EAW89241,EAW89242,EAW89243,AAF36534,BAA91151,AAH08183,AAH17454,AAH22334,Q8TCD5,ADQ32487 Hs.67201 DNT|DNT1|P5N2|PN-I|PN-II|UMPH2|cdN|dNT-1 5' nucleotidase, deoxy (pyrimidine), cytosolic type C|5'(3')-deoxyribonucleotidase, cytosolic type|cytosolic 5',3'-pyrimidine nucleotidase|deoxy-5'-nucleotidase 1|uridine 5'-monophosphate phosphohydrolase 2|uridine 5-prime monophosphate hydrolase 2 protein-coding 1322084 NT5C1A 5'-nucleotidase, cytosolic IA Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM] 1580863 17065091,16710414,15888028,15489334,12477932,11690631,11133996,19352542,19451621 84618 NM_032526,AL035404,CH471059,AF331801,AY028778,BC103879,BC103880 NP_115915,CAI19573,EAX07259,AAK01294,AAK30000,AAI03880,AAI03881,Q9BXI3 Hs.307006 CN-I|CN-IA|CN1|CN1A|MGC119199|MGC119201 AMP-specific 5'-NT|cytosolic 5' nucleotidase, type 1A|cytosolic 5'-nucleotidase 1A|cytosolic 5'-nucleotidase IA protein-coding 1354038 NT5C1B 5'-nucleotidase, cytosolic IB Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM] 1580863 14702039,12477932,11690631,16344560,20125193,20392501 93034 NM_033253,NM_001002006,AC079148,CH471053,AA774429,AF352326,AF356185,AF417165,AJ295254,AK093234,AK093464,AK097422,AK097848,AK302084,AK302200,AK302795,BC026076,BC136387,BC141842,BC171761,AA974253,DB054653,NM_001199086,NM_001199087,NM_001199088,HC007182,HC044805 NP_150278,NP_001002006,AAX93260,EAX00852,EAX00853,EAX00854,AAK83285,AAK39108,AAL11910,CAC44363,BAC04103,BAC04174,BAG53468,BAG63471,BAG63561,BAG63998,AAI36388,AAI71761,Q96P26,NP_001186015,NP_001186016,NP_001186017,CBH19396,CBH30732 Hs.120319 AIRP|CN-IB|CN1B|MGC26640 OTTHUMP00000200497|OTTHUMP00000220360|autoimmune infertility-related protein|cytosolic 5'-nucleotidase 1B|cytosolic 5'-nucleotidase IB protein-coding 1322721 NT5C2 5'-nucleotidase, cytosolic II Purine 5-prime-nucleotidase (EC 3.1.3.5) preferentially hydrolyzes inosine 5-prime-monophosphate (IMP) and other purine nucleotides, and is allosterically activated by various compounds, including ATP. The enzyme is exclusively located in the cytoplasmic matrix of cells and may have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases.[supplied by OMIM] 1580863 20542020,2848805,7999131,19428333,18775979,17405878,17350683,16189514,15923058,15489334,12477932,2839573,16385451,19060904,19430483,21045733 22978 NM_012229,NM_001134373,AL139817,AL360001,CH471066,AK127670,AK291667,AK295593,AK312517,BC001595,BX648078,D38524 ABM86664,NP_036361,NP_001127845,CAI40078,CAI40079,CAI40080,CAI40081,CAI13473,CAI13474,EAW49656,EAW49657,BAG54547,BAF84356,BAH12118,AAH01595,BAA07529,P49902,ABM83452 Hs.97439 GMP|NT5B|PNT5|cN-II 5'-nucleotidase (purine), cytosolic type B|IMP-specific 5'-NT|cytosolic 5'-nucleotidase II|cytosolic purine 5'-nucleotidase|purine 5' nucleotidase protein-coding 1323774 NT5C3 5'-nucleotidase, cytosolic III Pyrimidine 5-prime-nucleotidase (P5N; EC 3.1.3.5), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates UMP and CMP to the corresponding nucleosides. There are 2 isozymes of pyrimidine 5-prime nucleotidase in red blood cells, referred to as type I (UMPH1) and type II (UMPH2; MIM 191720). The 2 enzymes are not separable by electrophoresis in humans but have distinct kinetic properties, and the proteins show no homology.[supplied by OMIM] 1580863 12714505,12477932,12418222,11369620,11230166,11076863,11042152,8889549,7818506,16712791,9428647,10942414,12930399,11795870,8557639,18775979,18499901,17349762,16381901,15604219,15489336,15489334,15238149,20877624,16344560,19623099 51251 NM_001002010,NM_016489,AACC02000103,AC074338,AC083863,CH471073,AA482595,AF151067,AF312735,AK290118,AK314109,AL136716,AW339593,BC013292,BC015856,BC066914,BC071652,BF790086,CB127255,CB127877,CB137440,CR533518,CR597528,CR616013,N98231,DB243020,NG_015800,NM_001166118,NR_029372 NP_001002010,NP_057573,EAL24463,EAW94007,EAW94008,EAW94009,EAW94010,EAW94011,AAF36153,AAG33630,BAF82807,BAG36802,CAB66650,AAH13292,AAH15856,AAH66914,AAH71652,CAG38549,Q9H0P0,CAL38016,CAL38358,CAL38194,ABM83769,ABW03538,NP_001159590 Hs.487933 MGC27337|MGC87109|MGC87828|P5'N-1|PN-I|PSN1|UMPH|UMPH1|cN-III OTTHUMP00000202849|OTTHUMP00000202851|P5N-1|cytosolic 5'-nucleotidase 3|cytosolic 5'-nucleotidase III|p36|pyrimidine 5'-nucleotidase 1|uridine 5' monophosphate hydrolase 1|uridine 5'-monophosphate hydrolase 1 protein-coding 1602442 NT5C3L 5'-nucleotidase, cytosolic III-like 12477932,17207965,15146197 115024 AC091172,CH471152,AA730137,BC013742,BC014132,BC016971,BC067788,BE296438,BX438861,BX460247,CB045324,CR590844,CR590850,CR595234,CR602296,CR604484,CR607780,CR608329,CR613714,CR614565,CR615474,CR617027,CR618474,CR622482,NM_052935,CR624506,BF339623,BI914049,BI917511,BX365588,CN393115,DR159341,NR_033464,NR_033465,R61279 NP_443167,EAW60771,EAW60772,EAW60773,AAH13742,AAH14132,AAH16971,AAH67788,Q969T7,ADQ31613 Hs.237536 MGC20781|MGC21375 OTTHUMP00000164752|OTTHUMP00000164753|OTTHUMP00000164754|OTTHUMP00000164755|OTTHUMP00000164756|cN-III-like protein|cytosolic 5'-nucleotidase III-like protein protein-coding 1348422 NT5C3P1 5'-nucleotidase, cytosolic III pseudogene 1 11369620,9847074 90859 NG_000948,AC092661,CR594161,CR617694 UMPH1P pseudo 1353333 NT5CP1 5',3'-nucleotidase, cytosolic pseudogene 1 9847074 326609 NG_002598,AC005225 pseudo 1349114 NT5CP2 5',3'-nucleotidase, cytosolic pseudogene 2 9847074 326611 NG_002599,AC005225 pseudo 1313107 NT5DC1 5'-nucleotidase domain containing 1 19913121,20628086,18978678,15498874,15489334,14702039,14574404,12477932,12107410 221294 NG_021351,NM_152729,AL050331,AL121945,AL121963,CH471051,AF245044,AK090918,AK290408,AK308337,AY203935,BC015138,BC056664,BC063504,BC108699,BC136832,BC136841,BG428640,BM153683,BM808222,CA390074,CR612669,CR623024,CR624824 NP_689942,CAI21537,CAI19532,CAI19533,CAI19534,EAW48236,EAW48237,EAW48238,EAW48239,AAG44481,BAG52247,BAF83097,AAP34458,AAI08700,AAI36833,AAI36842,Q5TFE4,Q9H2R1 Hs.727573 C6orf200|LP2642|MGC131837|MGC24302|NT5C2L1 5'-nucleotidase domain-containing protein 1|5'-nucleotidase, cytosolic II-like 1 protein protein-coding 1601740 NT5DC2 5'-nucleotidase domain containing 2 16344560,15489334,14702039,12477932,9110174,8889548,8619474 64943 NM_022908,NM_001134231,AC112215,CH471055,AF131781,AK022504,AK023995,AK092469,AW510639,BC014550,BC047747,BM982658,CR612874,DA013090,DB265466,DR003312 NP_075059,NP_001127703,EAW65236,EAW65237,AAD20044,BAB14064,BAB14763,AAH14550,Q9H857 Hs.84753 FLJ12442 5'-nucleotidase domain-containing protein 2|OTTHUMP00000213195|OTTHUMP00000213220|OTTHUMP00000213343 protein-coding 1602220 NT5DC3 5'-nucleotidase domain containing 3 15827139,15547748,14702039,12477932,18839057 51559 NM_001031701,AB032786,AC012555,AC025265,CH471054,AB032773,AK002128,BC052293 NP_001026871,BAA93086,EAW97715,EAW97716,EAW97717,EAW97718,BAA93053,BAA92095,AAH52293,Q86UY8 Hs.48428 FLJ11266|GNN|TU12B1-TY|TU12B1TY 5'-nucleotidase domain-containing protein 3|GRP94-neighboring nucleotidase protein-coding 1603155 NT5DC4 5'-nucleotidase domain containing 4 14702039,12477932 284958 XM_001716541,XM_001715677,XM_001716359,AC079922,AK092780,BC041437 XP_001716593,XP_001715729,XP_001716411,AAH41437,Q86YG4 Hs.589714 5'-nucleotidase domain containing 4 protein-coding 734028 NT5E 5'-nucleotidase, ecto (CD73) Ecto-5-prime-nucleotidase (5-prime-ribonucleotide phosphohydrolase; EC 3.1.3.5) catalyzes the conversion at neutral pH of purine 5-prime mononucleotides to nucleosides, the preferred substrate being AMP. The enzyme consists of a dimer of 2 identical 70-kD subunits bound by a glycosyl phosphatidyl inositol linkage to the external face of the plasma membrane. The enzyme is used as a marker of lymphocyte differentiation. Consequently, a deficiency of NT5 occurs in a variety of immunodeficiency diseases (e.g., see MIM 102700, MIM 300300). Other forms of 5-prime nucleotidase exist in the cytoplasm and lysosomes and can be distinguished from ecto-NT5 by their substrate affinities, requirement for divalent magnesium ion, activation by ATP, and inhibition by inorganic phosphate.[supplied by OMIM] 1300048,1581647,1580863 19956800,19536092,2848759,3036115,2129526,18029348,20874842,19008478,18924612,18787389,18636315,18566412,18062933,17911479,17671792,17487388,17065075,16735966,16718268,16709165,16344560,16303743,14578500,12892649,12774669,12477932,12170585,12030367,12000134,11163406,11149913,11067892,11046060,11004484,10898423,10570953,10470109,9651114,9553767,9361795,9238677,9169488,9113412,9015312,8781432,8566797,8000038,2173922,2137649,819433,20392501,20628624 1581647 4907 NM_002526,AF069067,AL135903,AL589666,AY351432,CH471051,U21730,AK075008,AK075083,AK314661,BC015940,BC065937,CR591295,DA574510,DQ186653,X55740 NP_002517,AAC98672,CAH72336,CAH72337,CAI40164,CAI40165,CAI40167,CAI40168,AAQ21035,EAW48634,EAW48635,EAW48636,AAA96950,BAG52050,BAG52063,BAG37219,AAH15940,AAH65937,ABA39834,CAA39271,P21589,Q53Z63,Q5JRQ2,Q6NZX3,Q96B60 Hs.153952 CD73|E5NT|NT|NT5|NTE|eN|eNT 5 nucleotidase|5' nucleotidase (CD73)|5'-NT|5'-nucleotidase|Purine 5-Prime-Nucleotidase|ecto-5'-nucleotidase protein-coding 1320058 NT5M 5',3'-nucleotidase, mitochondrial This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 10899995,16004879,15489334,12477932,12352955,12124385,20877624 56953 NM_020201,AC006071,AJ277557,CH471196,AF210652,AL526346,BC035838,CR602400,DQ323995 NP_064586,CAB99251,EAW55710,AAF87076,AAH35838,ABC88597,Q2I378,Q9NPB1 Hs.513977 dNT-2|dNT2|mdN 5' nucleotidase, mitochondrial|5'(3')-deoxyribonucleotidase, mitochondrial|5(3)-deoxyribonucleotidase|deoxy-5'-nucleotidase 2|mitochondrial 5' nucleotidase protein-coding 1350127 NTAN1 N-terminal asparagine amidase 1580863 18496130,15489334,14702039,12477932,8910481,17207965,20189936 123803 NM_173474,AC138932,AC139256,CH471301,AF092440,AK092915,AK300557,BC017336,AL833023 NP_775745,EAW54749,AAP97215,BAG62263,AAH17336,Q658S0,Q7Z4Z0,Q96AB6,CAH56267,ADQ31702 Hs.592045 DKFZp666E058 N-terminal asparagine amidohydrolase|PNAA|PNAD|protein N-terminal Asn amidase|protein N-terminal asparagine amidohydrolase|protein NH2-terminal asparagine amidohydrolase|protein NH2-terminal asparagine deamidase|protein NTN-amidase protein-coding 732368 NTF3 neurotrophin 3 The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq] 631710,1358755,1358754,1580863,4891068,4891112,4891123,4891120,4891110 2236018,19369542,19086053,18596692,18438945,18438927,18428117,18313696,18305571,18203754,18179783,18069415,17698064,17234344,17112518,16786155,16441896,15843147,15770067,15589528,15544837,15489334,15365216,15146197,12900521,12710933,12598727,12477932,12397373,12107412,11920853,11877300,11580868,9756741,9488719,8925252,8841198,8819011,8621424,7991545,7733919,17207965,7703225,7514502,2365067,2344409,2025430,1889807,1889806,1542658,20060128,20576502,19357934,19453261,19598235,20160348,20219210,20360537,20379614,9973222 631710,1358755,1358754,4891068,4891112,4891123,4891120,4891110 4908 NM_001102654,NM_002527,AC007848,AC137627,CH471116,M37763,M61180,AK293895,AW190653,BC069773,BC107075,BU939830,CD672441,CN267386,CR541906,X53655,HD113715 NP_001096124,NP_002518,EAW88824,EAW88825,AAA59953,AAA63231,BAH11621,AAH69773,AAI07076,CAG46704,CAA37703,P20783,ADQ32931,CBW46116 Hs.99171 HDNF|MGC129711|NGF-2|NGF2|NT3 NT-3|nerve growth factor 2|neurotrophic factor|neurotrophin-3 protein-coding 733149 NTF4 neurotrophin 4 This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq] 737722,1580863,4891068 1496419,19086053,19081579,18980528,18305571,18203754,18179783,16648236,16648150,16316409,15987945,15489334,12900521,12477932,12397373,11855816,11738045,10631974,10490030,10388563,9519408,8873083,8241191,8061955,7703225,7541633,1742028,1313578,15258592,11263982,20175187,20806036,10479455,10681461,10869436,10908605,19598235,19765683,20215012,20219210,20463313,925010,9973328 737722,4891068 4909 AAB20549 NM_006179,NG_000019,AC008687,CH471177,M86528,AK297906,BC012421,BT019368,BT019369,CR541900,NG_016289 NP_006170,EAW52441,EAW52442,EAW52443,AAA60154,BAG60225,AAH12421,AAV38175,AAV38176,CAG46698,AAB20549,P34130,ABM82234,ABM85418 Hs.266902,Hs.727282 GLC10|GLC1O|NT-4/5|NT4|NT5|NTF5 NT-4|NT-5|neurotrophic factor 4|neurotrophic factor 5|neurotrophin 5|neurotrophin 5 (neurotrophin 4/5)|neurotrophin-4|neurotrophin-5|neutrophic factor 4 protein-coding 1345269 NTF6A neurotrophin 6 alpha (pseudogene) 727527 1496419,1313578 727527 4910 NG_000019,AC008687,M86529 NTF5P|NTF6|PSI-NT4 neurotrophin 6, alpha pseudogene pseudo 1347769 NTF6B neurotrophin 6 beta (pseudogene) 1496419 4911 NG_000019,AC008687,S41540 AAB22780 neurotrophin 6, beta pseudogene pseudo 1350644 NTF6G neurotrophin 6 gamma (pseudogene) 1496419 4912 NG_000019,AC008687,S41541 AAB22781 neurotrophin 6, gamma pseudogene pseudo 1319554 NTHL1 nth endonuclease III-like 1 (E. coli) The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq] 1580863 20843780,18515411,18307537,17923696,17353931,17150535,16446124,16111924,15616553,15533839,15489334,14734554,14522981,12519758,12477932,12167705,12144783,12140329,11328882,9927729,9743625,9705289,9045706,8611553,10882850,15358233,9831664,10583946,11937636,8990169,12531031,19414504,15260972,20226869,20522537,20877624,21048031,20574454 4913 HQ206278,HQ206301,HQ206302,HQ206279,HQ206280,HQ206281,HQ206282,HQ206283,HQ206284,HQ206285,HQ206286,HQ206287,HQ206288,HQ206289,HQ206290,HQ206291,HQ206292,HQ206293,HQ206294,HQ206295,HQ206296,HQ206297,HQ206298,HQ206299,HQ206300,HQ206304,HQ206305,HQ206303,HQ206266,HQ206267,HQ206268,HQ206269,HQ206270,HQ206271,HQ206272,HQ206273,HQ206274,HQ206275,HQ206276,HQ206277,NM_002528,NG_008412,AB014460,AC005600,AC093513,AF498098,CH471112,AB001575,BC000391,BC003014,CR597616,CR625882,U79718,U81285,Y09687 ADP92214,ADP92215,ADP92216,ADP92217,ADP92218,ADP92219,ADP92220,ADP92221,ADP92222,ADP92223,ADP92224,ADP92225,ADP92226,ADP92227,ADP92228,ADP92229,ADP92230,ADP92231,ADP92232,ADP92233,ADP92234,ADP92235,ADP92236,ADP92237,ADP92238,ADP92239,ADP92240,ADP92241,ADP92242,ADP92243,ADP92244,ADP92245,ADP92246,ADP92247,ADP92248,ADP92249,ADP92250,ADP92251,ADP92252,ADP92253,NP_002519,BAA32695,AAC34209,AAM11786,EAW85562,BAA19413,AAH00391,AAH03014,AAB41534,AAC51136,CAA70865,P78549 Hs.66196 NTH1|OCTS3 endonuclease III-like protein 1 protein-coding 1603310 NTM neurotrimin This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 7891157,15489334,15379248,15340161,12975309,12819783,12477932,12107410,8889548,20379614,17207965,21036197,21182207,19913121,20628086,20889312 50863 NM_001048209,NM_001144058,NM_001144059,AP000844,AP002355,AP003025,AP003039,AP003166,AP004248,AP004372,AP004722,AP005155,CH471065,CS287743,AA854425,AF126426,AI360870,AI573168,AK293448,AK293487,AK294137,AK315964,AY358331,BC050716,BE222817,BE263639,BE504685,BF064266,BI913885,BM548429,BM726313,CA392146,CR602526,NM_016522,EF043567 NP_001041674,NP_001137530,NP_057606,NP_001137531,EAW67800,EAW67801,EAW67802,CAK18708,AAF37591,BAH11509,BAH11520,BAH11681,BAH14335,AAQ88697,AAH50716,ABK34282,Q9P121,ADQ33119 Hs.504352 HNT|IGLON2|MGC60329|NTRI IgLON family member 2|OTTHUMP00000196339|neurotrimin protein-coding 735501 NTN1 netrin 1 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq] 1580863 10102268,18455953,19196994,19822088,19826074,19940358,20007677,20029409,20075388,20080097,9950216,8978605,8861902,20036673,10996153,19349462,19211441,19122655,18922894,18796601,18692059,18653556,18469807,18439993,18400890,18353983,18253061,16203981,16181408,16158190,15811950,15574733,15573119,15491747,15343335,14602071,12810718,12636918,11356879,11048721,20620466,9858595,12149262,20736409 9423 NM_004822,AC005695,AC090610,CH471108,BC092429,U75586,GU727649 NP_004813,EAW90032,AAD09221,O95631,ADU87650 Hs.660885 NTN1L netrin 1, mouse, homolog of|netrin-1 protein-coding 732796 NTN3 netrin 3 1580863 9143507,12471613,10634642,10477713,10366627,9887257,8828041,15923648 4917 NM_006181,AC106820,CH471112,U86758,AF103353,AF103379,AF103383,AF103696,AJ239369,U86759,CS572995 NP_006172,EAW85504,AAC51246,AAD20522,AAD16550,AAD16554,AAD16756,CAB37162,AAC51247,O00634,CAN86491 Hs.158336,Hs.535669,Hs.660766,Hs.449621,Hs.719895 NTN2L Netrin-2, chicken, homolog of, like|netrin-2-like protein|netrin-3 protein-coding 1348678 NTN4 netrin 4 NTN4 belongs to a family of proteins related to laminins (see LAMA1, MIM 150320) Koch et al. (2000) [PubMed 11038171].[supplied by OMIM] 19094984,18719102,17545519,15519678,15489334,14702039,12477932,11038171,16189514,20407033,17174565,19859801,20029409 59277 NM_021229,AC008128,AC090001,CH471054,AF119916,AF278532,AF297711,AK024691,AK026833,AK226070,AK290591,AK315796,AL137540,AL833767,AY330211,BC013591,BC136798,BC136799,BI549738 NP_067052,EAW97544,EAW97545,AAF69670,AAG30822,AAG53651,BAB14964,BAF83280,BAG38140,CAB70800,CAH56243,AAP92113,AAH13591,AAI36799,AAI36800,Q9HB63 Hs.201034 FLJ23180|PRO3091 beta-netrin|hepar-derived netrin-like protein|netrin-4 protein-coding 1606977 NTN5 netrin 5 12477932 126147 BC021210,BC033207,NM_145807,AC008888,CH471177,BC018654,BC018697 AAH18654,AAH21210,AAH33207,Q8WTR8,NP_665806,EAW52386,EAW52387,EAW52388,AAH18697 Hs.326217 netrin-1-like protein|netrin-5 protein-coding 1350531 NTNG1 netrin G1 Netrin G1 (NTNG1) belongs to a conserved family of proteins that act as axon guidance cues during vertebrate nervous system development (Nakashiba et al., 2000 [PubMed 10964959]).[supplied by OMIM] 16502428,15901489,15870826,15705354,15508520,15494819,15489334,15340161,12975309,12477932,10964959,10231032,21079607,17207965,14595443,19240061,18628988,18384956,18234954,17903671,17507910,16710414,19913121,20628086,20029409,20379614 22854 NM_001113228,NM_001113226,NM_014917,AC114491,AL513187,AL590427,CH471156,AB023193,AK296533,AK297659,AY358365,AY764260,AY764261,AY764262,AY764263,AY764264,AY764265,AY764266,AY764267,AY781194,BC030220,BX538348,CR594836,CS572991 ADQ31744,NP_001106699,NP_001106697,NP_055732,CAH73828,CAH73829,CAH73830,CAH73831,CAH73832,CAH73833,CAH73380,CAH73381,CAH73382,CAH73383,CAH73384,CAH73385,EAW51249,EAW51250,BAA76820,BAG59162,BAG60025,AAQ88731,AAW47407,AAW47408,AAW47409,AAW47410,AAW47411,AAW47412,AAW47413,AAW47414,AAW47415,AAH30220,CAD98143,Q5ICN7,Q5IEC1,Q5IEC2,Q5IEC3,Q5IEC4,Q5IEC5,Q5IEC6,Q5IEC7,Q5IEC8,Q9Y2I2,ACE87474,ACE86788,CAN86489 Hs.657434 KIAA0976|Lmnt1 OTTHUMP00000012634|OTTHUMP00000012705|OTTHUMP00000012706|OTTHUMP00000012707|OTTHUMP00000012708|OTTHUMP00000012709|YLSR571|axon guidance molecule|laminet 1|laminet-1|netrin G1f|netrin-G1 protein-coding 1316073 NTNG2 netrin G2 1580863 18204098,17507910,16189514,15705354,15489334,12975309,12477932,12168954,11804778,11347906,9110174,8619474,20382146,20029409 84628 NM_032536,AL159997,AL353631,CH471090,AB058760,AF131842,AY358165,BC013770 NP_115925,CAI40855,CAI40856,CAI16125,CAI16126,EAW87994,EAW87995,BAB47486,AAD20057,AAQ88532,AAH13770,O95898,Q96CW9,EAW87996 Hs.163642 KIAA0625|KIAA1857|LHLL9381|Lmnt2|MGC21884|NTNG1|bA479K20.1 bA479K20.1 (novel protein)|laminet 2|laminet-2|netrin G1|netrin-G2 protein-coding 734274 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq] 1580863 20542022,20600627,10748052,20680486,14691455,14642435,12536040,12477932,12446789,12406349,12237455,12210794,12208732,12150951,12102460,11859925,11850535,11733534,11705863,11668614,11466412,11310631,11251075,11244088,11159935,11150334,11147812,11071380,10982191,10861667,18322713,18319596,18305571,18270328,18221326,18203754,18077166,18072090,18005706,17971243,17850422,17673289,17671718,17667845,17635673,17619016,17617666,17531524,17447019,17196528,17143529,16996570,16935282,16919030,16862449,16860569,16786155,16710414,16704535,16701206,16586073,16546643,16483615,16373086,16275928,16181609,16138253,16091303,15961390,15950763,15870692,15753086,15637590,15523689,15489334,15488758,15362372,15273715,15167895,15159601,15024033,14988025,14985763,9290260,19167335,8957089,11520933,16805430,16939974,7806500,9182757,10629055,16284401,11157096,19453261,19330021,19250380,19177265,19169037,19120874,19115484,19086053,18780967,18727839,18719857,18678285,18427551,18419753,10567924,10490030,10443680,10391209,10388563,10330344,10329710,10233776,10103137,10092678,10090906,9927421,9867838,9856458,9507002,9341772,9282923,9099755,8889548,8696348,8524391,8384556,8325889,8226808,8155326,7823156,7657647,7601468,7565764,7541035,7510697,7509449,2966065,2927393,2869410,1850821,10708759,1849459,1715690,1706478,1695324,1656363,1532241,1463607,18457658,18174161,12471037,8183561,8621424,10679771,11729324,8577769,8943228,8610109,7542991,19883730,19913121,20628086,20209132,20943663,20977883,20663926,10712923,10747026,12006576,15513915,19386345,19399531,19417027,19435634,19564412,19598235,19635108,19651702,19730683,19734938,19749791,19758420,19816090,19945432,19957796,20003389,20186105,20219210,20424473,9069267 4914 NM_001007792,NM_002529,NM_001012331,NG_007493,AB019488,AL158169,AY321513,CH471121,Y09028,Y09029,Y09030,Y09031,Y09032,Y09033,Y09034,Y09035,Y09036,AK126428,AK290759,AK312704,BC062580,BC136554,BC144239,BM685020,CR625585,CR936794,M23102 NP_001007793,NP_002520,NP_001012331,BAA34355,CAH70010,AAP88292,EAW52900,EAW52901,EAW52902,BAF83448,BAG35582,AAH62580,AAI36555,AAI44240,AAA36770,P04629,Q00182,Q04227 Hs.406293 DKFZp781I14186|MTC|TRK|TRK1|TRKA|Trk-A|p140-TrkA Oncogene TRK|TRK1-transforming tyrosine kinase protein|high affinity nerve growth factor receptor|trk precursor|tyrosine kinase receptor A 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 731305 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1626135,1626133,1580863 17889702,17884018,17873329,17720314,17616679,17611278,17570738,17200667,17008023,16964397,16939974,16862449,16786155,16713586,16713371,16701206,16648150,16647839,16335952,16051641,16034442,15838534,15657181,15647480,15637590,15494731,15489334,15389758,17918233,15329723,15304335,15167895,16805430,1710174,19488044,19453261,19403818,19365399,19363525,19307055,19268276,19170129,19156168,19124685,19086053,19018715,18992902,18780967,18727839,18678285,18595003,18534558,18511296,18428117,18319596,18293376,18286198,18253057,18203754,18201274,18075316,17971243,10631974,10490030,20610389,20156366,20615547,20811716,20877300,15024057,14702039,12921913,12912764,12808116,12719654,12477932,12471037,12419535,12367511,12237455,12074588,11855816,11849294,11798182,11738045,11432792,11251075,11162451,11157096,10533983,10388563,10386953,9927421,9856458,9648856,9573364,9507002,9312147,9195161,8895847,8621424,7936202,7823156,7789988,7759111,7679912,7574684,1645620,18457658,10092678,11263982,20428771,20463055,19913121,20628086,20662941,18959266,20673758,20202475,12006576,14617818,15513915,18637190,19386345,19417027,19548263,19598235,19635108,19641488,19741136,19765683,19801649,19816090,19844206,19874574,19879330,19885622,19927149,20014955,20083228,20101235,20124106,20132184,20186105,20193039,20219210,20379614,20468064 1626135,1626133 4915 NM_001018064,NM_001018065,NM_001018066,NM_001007097,NG_012201,AF410902,AL390777,AL445532,AL596132,NM_006180,CH471089,AB209118,AF086101,AF400441,AF410898,AF410899,AF410900,AF410901,AF508964,AJ420458,AK092267,AK123824,AK289904,AK294285,AL533181,AL713745,AL833196,AW235842,BC031309,BC031835,BC075804,BE466753,BX649001,S76473,S76474,U12140,X75958 NP_006171,NP_001018074,NP_001018075,NP_001018076,NP_001007098,AAL67968,CAH72193,CAH72194,CAH72195,CAH72196,CAH72197,CAH71816,CAH71817,CAH72313,CAH72314,CAH72315,EAW62687,EAW62688,EAW62689,EAW62690,EAW62691,EAW62692,EAW62693,BAD92355,AAK92490,AAL67964,AAL67965,AAL67966,AAL67967,AAM77876,BAF82593,BAG57570,AAH31835,AAB33109,AAB33110,AAC51371,CAA53571,Q16620,CAH72316,Q59GJ1,Q5VWE5,Q8WXJ4,Q8WXJ5,Q8WXJ7,Q8WXJ8 Hs.494312,Hs.712776 GP145-TrkB|TRKB BDNF-tropomyosine receptor kinase B|BDNF/NT-3 growth factors receptor|OTTHUMP00000021573|OTTHUMP00000021574|OTTHUMP00000021576|OTTHUMP00000021577|trk-B|trkB tyrosine kinase|tyrosine kinase receptor B protein-coding 1354062 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. [provided by RefSeq] 1580863,2325656,2325654,2308892,2325663,2325660 7806211,19453261,19370765,19351817,19344762,19187638,19179422,19156760,19086053,19040714,19011601,18713973,18639687,18616610,18428117,18367154,18347002,18336001,18319596,18293376,18203754,18179783,18068631,17971243,16941478,16862449,16826429,16786155,16648236,16647839,16537434,15932601,15312164,15247919,15198123,15167895,15167446,14668342,12927579,12477932,12471037,12450792,12399943,12237455,12210087,12034707,11877382,11205744,11157096,10764727,10027399,9927421,9856458,9778053,9462753,9648868,9488719,9197281,9195161,9110174,8895847,8619474,8344249,7828539,7823156,7657612,1653651,1326636,10092678,8621424,12006576,15513915,19417027,19598235,19893451,20160348,20219210,20379614,9973222,19556619,21070662,20554328,20802235 2325656,2325654,2308892,2325663,2325660 4916 NM_002530,NM_001012338,NM_001007156,AC009711,AC011966,AC021677,AJ224521,CH471101,AF052184,AF058389,AF125808,AI613045,AK297160,AK302504,AK309695,AK313646,AL134171,AY065844,BC013693,BC128249,BG741347,BI962878,BM887782,BQ893817,BT007291,CB053605,CK903553,S76475,S76476,U05012 NP_002521,NP_001012338,NP_001007157,CAA12029,EAX01989,EAX01990,EAX01991,EAX01992,EAX01993,AAC97478,AAF19762,BAH12511,BAH13730,AAL40893,AAH13693,AAP35955,AAB33111,AAB33112,AAA75374,O95192,Q16288,Q8WWU8,Q96CY4 Hs.410969,Hs.706364 TRKC|gp145(trkC) ETS related protein-neurotrophic receptor tyrosine kinase fusion protein|ETV6-NTRK3 fusion|GP145-TrkC|NT-3 growth factor receptor|OTTHUMP00000192915|neurotrophin 3 receptor|trk-C|trkC tyrosine kinase|tyrosine kinase receptor C protein-coding 1319092 NTS neurotensin This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq] 1580863 17207965,17570131,17289170,17068197,16984735,16519961,16087676,15623535,15489334,15358593,15123666,14743366,14699144,12609826,12531461,12477932,12473660,12150975,11922768,11912133,11906607,11815627,11811984,11801734,11559354,11278902,9756851,9530155,8869556,8770919,8719037,8075503,20731814,18577758,16754659,17644423,7836437,8954810,19086053,18624930,18048355,17870207,7791794,6754769,3670596,3525564,1436492,409699,19878995,19932148,20138826,20468064 4922 NM_006183,AC016993,AF157683,CH471054,S47339,AF157682,AK312066,AW571577,BC010918,CR541936,U91618 ADQ32622,NP_006174,AAP37615,EAW97400,EAW97401,AAB23934,AAP37614,BAG35002,AAH10918,CAG46734,AAB50564,P30990,Q6FH20,Q86U50 Hs.80962 NMN-125|NN|NT|NT/N|NTS1 neurotensin/neuromedin N protein-coding 1314483 NTSR1 neurotensin receptor 1 (high affinity) Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq] 1580863,1358670 8381365,9763490,19156213,19086053,18809332,18624930,18541341,17289170,17018595,16299383,16087676,15764810,14962098,14699144,12360476,12150975,11906607,11780052,11559354,11279203,10930533,10690540,10514511,10390649,8995438,8719037,8075503,16754659,19864207,19874574,19968961,20018219,20048080,20398908,20424473,20468064,20959865,18577758 1358670 4923 NM_002531,AL035669,AL357033,CH471077,CS174241,AY429106,BC040711,X70070 NP_002522,CAC12747,CAC14923,EAW75345,CAJ34549,AAR07901,CAA49675,P30989,AAI52810 Hs.590869 NTR NT-R-1|NTR1|NTRH|high-affinity levocabastine-insensitive neurotensin receptor|neurotensin receptor type 1 protein-coding 733351 NTSR2 neurotensin receptor 2 The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq] 70631,1580863 9851594,8795617,19086053,18624930,15489334,15383539,12477932,12150975,12065070,12036977,11801734,11564178,8647296,10390649,16087676,19874574,19968961,20048080,20468071,16754659 70631 23620 NM_012344,AC106875,AC110754,CH471053,AY429107,BC022501,BC037776,BI758259,Y10148 NP_036476,AAY14691,AAX82018,EAX00922,EAX00923,EAX00924,AAR07902,AAH22501,AAH37776,CAA71233,O95665,ABM84215,ABW03663,ABW03314,ABW03604 Hs.131138 NTR2 NT-R-2|levocabastine-sensitive neurotensin receptor|neurotensin receptor type 2|neurotensin receptor, type 2 protein-coding 1605098 NUAK1 NUAK family, SNF1-like kinase, 1 20602751,16306228,17353931,18254724,16488889,16044163,15354411,15273717,15060171,14976552,14702039,13679856,12409306,9628581,19927127,20354225,20978832 9891 NM_014840,AC010182,AC011595,CH471054,AB011109,AK027302,AK289992,BC152462,BG831390,BQ694341,CK001516,R61142 NP_055655,EAW97768,EAW97769,BAA25463,BAB55026,BAF82681,AAI52463,O60285,AAI60165 ARK5|KIAA0537 AMP-activated protein kinase family member 5|AMPK-related protein kinase 5|NUAK family SNF1-like kinase 1 protein-coding 1603952 NUAK2 NUAK family, SNF1-like kinase, 2 18254724,19652946,15345718,14976552,14702039,14575707,12477932,11284715,11256614,11230166,11076863,20713714,18992219,18452098,18023418,16381901,15761153,15489336,15489334 81788 NM_030952,AC098933,CH471067,CQ782778,AK074830,AK303577,AK309520,AL136891,BC017306,BX537564,CR749209 NP_112214,EAW91549,CAF86008,BAC11234,BAG64597,CAB66825,AAH17306,CAH18066,Q68E04,Q9H093,CAL37782 Hs.497512 DKFZp434J037|DKFZp686F01113|FLJ90349|SNARK NUAK family SNF1-like kinase 2|SNF1/AMP activated protein kinase|SNF1/AMP kinase-related kinase protein-coding 1602112 NUB1 negative regulator of ubiquitin-like proteins 1 NUB1 interacts with and negatively regulates NEDD8 (MIM 603171), a ubiquitin-like protein that covalently conjugates to cullin (see MIM 603134) family members.[supplied by OMIM] 16877356,16707496,15489334,15347646,15146197,15081406,15009209,14757770,14638743,12853948,12816948,12690205,12477932,12374762,11585840,11259415,10508479,14499622 51667 AACC02000108,AC005486,AF108083,CH471173,AF155099,AF300717,AF459743,AK026433,AK293159,AY129295,BC034716,BC046354,CN258712,CR592734,CR593223,CR606629,CR607018,CR608975,CR611732,NM_016118,CR626423 NP_057202,EAL24511,AAS02030,AAC82474,EAW54000,EAW54001,EAW54002,EAW54003,AAD42865,AAK21001,AAO14547,BAH11464,AAN01355,AAH46354,Q9Y5A7 Hs.647082 BS4|NUB1L|NYREN18 NEDD8 ultimate buster 1|NEDD8 ultimate buster-1|NY-REN-18 antigen|renal carcinoma antigen NY-REN-18 protein-coding 1321458 NUBP1 nucleotide binding protein 1 (MinD homolog, E. coli) NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM] 1580863 18573874,7926816,18676680,15342556,12477932,10915798,10486206,9373149,8125298,19170196,19625176 4682 AK307148,NM_002484,AC074136,CH471112,AK223204,AK310089,BC100290,BC109322,BC109323,BP216107,CR600910,CR601815,CR613650,CR622882,U01833 AAI09323,NP_002475,EAW85178,BAD96924,AAI00291,AAI09324,AAA61932,P53384 Hs.81469 MGC117406|MGC130052|MGC130053|NBP|NBP1 NBP 1|cytosolic Fe-S cluster assembly factor NUBP1|nucleotide binding protein (e.coli MinD like)|nucleotide binding protein 1 (E.coli MinD like)|nucleotide-binding protein 1 protein-coding 1312953 NUBP2 nucleotide binding protein 2 (MinD homolog, E. coli) NUBP2 is a member of the NUBP/MRP gene subfamily of ATP-binding proteins (see NUBP1; MIM 600280) (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM] 1580863 10486206,18676680,15489334,14702039,12970194,12477932,8889548,18573874,19170196,19625176,19692168 10101 NM_012225,AC012180,AL031724,CH471112,AF118394,AK001023,AK093593,AK300696,AK315611,BC002768,BC008005,BU680530,BX648907,CR590570,CR597386,CR616284,CR618786,CR619719 NP_036357,CAC36077,EAW85613,EAW85614,EAW85615,EAW85616,EAW85617,AAD45242,BAA91471,BAH13326,BAG37980,AAH02768,AAH08005,Q2YS46,Q9Y5Y2 Hs.256549 CFD1|NUBP1 C447E6.1 (nucleotide binding protein 1 (E.coli MinD like) )|NBP 2|cytosolic Fe-S cluster assembly factor NUBP2|homolog of yeast cytosolic Fe-S cluster deficient 1|nucleotide binding protein 2 (E.coli MinD like)|nucleotide-binding protein 2 protein-coding 1343672 NUBPL nucleotide binding protein-like 19010793,18521091,15489334,15342556,14702039,12477932,8889548,20818383,20877624,20921969,17207965,19752196 80224 NM_025152,AL163973,AL355112,AL359400,AL390798,CH471078,AK022722,AK093789,AK295326,AK301447,AK316445,BC024919,BM978769,BP274976,BX248028,BX648419,CT002019,NM_001201573,NM_001201574 NP_079428,EAW65941,EAW65942,EAW65943,BAB14203,BAG52764,BAG58303,BAG62972,BAH14816,AAH24919,CAD62349,Q8TB37,NP_001188502,NP_001188503,ADQ31888 Hs.288981 C14orf127|FLJ12660|IND1|huInd1 IND1 homolog|iron-sulfur protein NUBPL|iron-sulfur protein required for NADH dehydrogenase|nucleotide-binding protein-like protein-coding 734023 NUCB1 nucleobindin 1 1580863 20679342,1520323,15308636,18154733,18029348,17686766,17390015,15489334,15287731,14702039,12477932,11752444,10915798,9647645,9589460,9373149,8661046,8643612,8125298,7589456,18316326,19656946,20503436,8147883,9417904 4924 AK292066,NM_006184,AC026803,CH471177,U31336,U31337,U31338,U31339,U31340,U31341,U31342,AK025458,AK097790,AK222805,AK315422,BC002356,BC015787,BT009828,BX647291,BX647718,CR599627,CR604440,CR622810,M96824,AK303126,AI208532,U92978 NP_006175,EAW52411,EAW52412,AAB60431,BAG53528,BAD96525,BAG37811,AAH02356,AAH15787,AAP88830,AAA36383,Q02818,Q53GX6,Q96BA4,BAF84755,BAG64232,AAX41711,AAX41712,AAX41713,AAX41714,BAI45949 Hs.631602 CALNUC|DKFZp686A15286|FLJ40471|NUC OTTHUMP00000201848|OTTHUMP00000201853|nucleobindin-1 protein-coding 734220 NUCB2 nucleobindin 2 Nucleobindin-2 is a calcium-binding EF-hand protein.[supplied by OMIM] 1580863 20625762,19262995,7811391,15308636,18029348,19351608,18154733,16407280,16344560,14702039,12477932,12087473,11749975,10915798,10381334,9639681,12909641,15604093,20032201,20427483,20427481,19913121,20628086 4925 NM_005013,AC107956,CH471064,AB231311,AF052642,AF052643,AF052644,AF450266,AK093209,AK097398,AK128739,AK291507,BC111556,DA816251,EU039831,EU039832,EU039833,X76732,AB478625 NP_005004,EAW68439,EAW68440,EAW68441,BAE78964,AAC06300,AAC06301,AAC06302,AAM73810,BAF84196,ABS85532,ABS85533,ABS85534,CAA54148,P80303,Q2L696,BAJ09615 Hs.654599 NEFA DNA-binding protein NEFA|gastric cancer antigen Zg4|nefa precursor|nucleobindin-2|nucleobinding 2 protein-coding 736162 NUCKS1 nuclear casein kinase and cyclin-dependent kinase substrate 1 19165527,18491381,17604136,17081983,16964243,16344560,15302935,14702039,12477932,12413487,12368243,11298763,9373149,8125298,16169070,15381070,15345747,20683486,16097034,15489334,19915575,19915576,20069058,20379614,12107411 64710 AC119673,AJ237668,CH471067,AB049824,AF130080,AJ012584,AK025133,AK056578,AK095855,AK225228,AK300416,AY823399,BC000805,BC016311,BC025313,BC039469,NM_022731,BC067224,BC107728,CR457339,CR597568,CR598072,DB004374,AA760780,BQ638451,NG_027548 NP_073568,CAC20412,EAW91578,EAW91579,BAC06820,AAG35506,CAC20408,BAB15076,BAG62145,AAV83925,AAH00805,CAG33620,Q6IA16,Q8WYF8,Q9H1E3,Q9H396,ABM82144,ABM85327 Hs.213061,Hs.726004,Hs.727594 FLJ21480|FLJ32016|FLJ38536|JC7|NUCKS P1|nuclear ubiquitous casein and cyclin-dependent kinases substrate|nuclear ubiquitous casein kinase 2|nuclear ubiquitous casein kinase and cyclin-dependent kinase substrate|potential LAG1 interactor protein-coding 731477 NUDC nuclear distribution gene C homolog (A. nidulans) NudC was first identified as a regulator of nuclear movement in the asexual reproductive cycle of the filamentous fungus Aspergillus nidulans. Human NUDC is a nuclear movement protein that associates with dynein (see DYNC1H1; MIM 600112) (Aumais et al., 2003 [PubMed 12679384]).[supplied by OMIM] 1358139,1580863 17353931,10210332,18288130,17658515,17081983,16860740,16710414,16381901,16088917,15489336,15489334,14676831,12852857,12679384,12477932,11734602,11256614,11230166,11076863,10453739,9601647,20562859,20675372,19560457,19615732,18029348,20529857 10726 NM_006600,AL356390,CH471059,AB019408,AF086922,AF100760,AF125465,AF130736,AF241788,AL136725,BC002399,BC003132,BC006147,BC007280,BC015153,BC021139,CR590748,CR597418,CR598417,CR612636,CR612818,CR615789,CR619132,CR621608 NP_006591,CAI13560,CAI13561,CAI13563,EAX07780,BAA76628,AAP97152,AAD43024,AAD39921,AAD30517,AAG44476,CAB66659,AAH02399,AAH03132,AAH06147,AAH07280,AAH15153,AAH21139,Q9H2R7,Q9Y266,CAL37600,CAL38129 Hs.263812 HNUDC|MNUDC|NPD011 nuclear distribution gene c homolog (aspergillus)|nuclear distribution protein C homolog|nuclear migration protein nudC protein-coding 1349940 NUDCD1 NudC domain containing 1 737633 14688378,12477932,11416219,18534745,18754882,19615732 737633 84955 NM_032869,NM_001128211,AC021237,CH471060,AF283301,AF283302,AF521133,AK027897,AK301278,AK307663,AK311583,AK315006,AL832317,BC000967,BC031258,BC043406,CR602321,CR603601,CR613260,CR618397 NP_116258,NP_001121683,EAW91924,EAW91925,EAW91926,AAK73017,AAM69373,AAQ08823,BAB55439,BAG62838,CAD38612,AAH00967,AAH31258,AAH43406,Q96RS6 Hs.380291 CML66|FLJ14991|OVA66 chronic myelogenous leukemia tumor antigen 66|nudC domain-containing protein 1|tumor antigen CML66 protein-coding 1353286 NUDCD2 NudC domain containing 2 737633 11256614,16381901,15489336,15489334,12477932,11230166,11076863,20133715 737633 134492 AC112205,CH471062,AK311957,BC017934,BX538290,NM_145266,FJ215684 NP_660309,EAW61527,BAG34897,AAH17934,CAD98085,Q8WVJ2,CAL37614,CAL38316,ACJ05660 Hs.140443 DKFZp686E10109 NudC-like protein 2|nudC domain-containing protein 2 protein-coding 1344595 NUDCD3 NudC domain containing 3 The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq] 16754861,16189514,15489334,15146197,14702039,12853948,12690205,12477932,11181995,10470851,9847074,20562859,19615732,19806165,20379614 23386 CH236960,CH471128,AB028991,AK024226,AK025555,AK026126,AK124729,AK127163,AK307613,AW138459,BC003691,BC011673,BC017657,BC035014,CN386226,CR598639,CR618049,CR620264,EU350932,NM_015332,AC004453 EAL23754,EAW61099,EAW61100,EAW61101,BAA83020,BAB14855,AAH03691,AAH11673,AAH35014,ABY60409,Q8IVD9,NP_056147,AAQ96892 Hs.488171 KIAA1068|NudCL NudC-like protein|nudC domain-containing protein 3 protein-coding 1352388 NUDCP1 nuclear distribution gene C homolog (A. nidulans) pseudogene 1 10453739 10790 NG_001230,AC012066,AF125466 pseudo 1343726 NUDCP2 nuclear distribution gene C homolog (A. nidulans) pseudogene 2 10453739 10789 NG_001229,AC009948,AF125467 pseudo 731881 NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq] 1580863 7713500,17353931,8226881,18848840,18776649,18708163,18515411,18510611,18270339,18091433,17917452,17417778,17252231,17207658,17142918,16774934,16607562,16600130,15931596,15730954,15654505,15516784,15489334,15449173,15133035,15095864,14634838,12957652,12903117,12857738,12757855,12690205,12619034,12477932,12051941,12051680,11852070,11756418,11572992,11136354,10536140,9211940,7782328,7713494,12717453,10608900,18029348,20144704,20453000 4521 BC022818,BC040144,BC051375,BC065367,BM927392,CR407655,CR623608,D16581,NM_198949,NM_198948,NM_002452,NM_198952,NM_198950,NM_198954,NM_198953,AC004971,CH236953,CH471144,D38594,DQ230907,AB025233,AB025234,AB025235,AB025236,AB025237,AB025238,AB025239,AB025240,AB025241,AB025242,AK026631,BC014618 AAH40144,AAH51375,AAH65367,CAG28583,BAA04013,P36639,Q6LES7,Q7Z7N6,NP_945187,NP_945186,NP_002443,NP_945190,NP_945188,NP_945192,NP_945191,EAL23948,EAL23949,EAW87225,EAW87226,EAW87227,EAW87228,EAW87229,EAW87230,EAW87231,EAW87232,BAA07601,ABB02181,BAA83791,BAA83792,BAA83793,BAA83794,BAA83795,BAA83796,BAA83797,BAA83798,BAA83799,BAA83800,AAH14618 Hs.534331 MTH1 7,8-dihydro-8-oxoguanine triphosphatase|8-oxo-7,8-dihydrodeoxyguanosine triphosphatase|8-oxo-7,8-dihydroguanosine triphosphatase|8-oxo-dGTPase|OTTHUMP00000115537|OTTHUMP00000115540|mutT human homolog 1|mutt (e. coli) human homolog (8-oxo-dgtpase)|nucleoside diphosphate-linked moiety X motif 1|nucleoside diphosphate-linked moiety X-type motif 1|nudix motif 1 protein-coding 1352246 NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 NUDT10 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM] 12370170,12121577,16169070,17207965,21071540,18264098,18264097,15772651,15489334,12477932,12105228,20564319 170685 NM_153183,AL158055,CH471180,AF469196,AK291952,BC049383,BC050700 ADQ33055,NP_694853,CAI40295,EAW89910,EAW89911,AAM64113,BAF84641,AAH49383,AAH50700,Q8NFP7 Hs.375178 APS2|DIPP3a|hDIPP3alpha DIPP-3-alpha|DIPP3-alpha|OTTHUMP00000023298|diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-alpha|diphosphoinositol polyphosphate phosphohydrolase 3-alpha|diphosphoinositol polyphosphate phosphohydrolase type 3 alpha|hAps2|nucleoside diphosphate-linked moiety X motif 10|nudix motif 10 protein-coding 1343668 NUDT11 nudix (nucleoside diphosphate linked moiety X)-type motif 11 NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM] 1580863 11256614,18264098,18264097,16381901,15489336,15489334,15345747,14702039,12477932,12370170,12121577,12105228,11076863,15772651,19902474,21071540 55190 NM_018159,AL158055,CH471180,AK001490,BC009942,BX419815 NP_060629,CAI40294,EAW89906,BAA91720,AAH09942,Q96G61,CAL37484 Hs.200016 APS1|ASP1|DIPP3b|DIPP3beta|FLJ10628|hDIPP3beta DIPP-3-beta|DIPP3-beta|diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta|diphosphoinositol polyphosphate phosphohydrolase 3, beta|diphosphoinositol polyphosphate phosphohydrolase 3-beta|hAps1|nucleoside diphosphate-linked moiety X motif 11|nudix motif 11 protein-coding 1322074 NUDT12 nudix (nucleoside diphosphate linked moiety X)-type motif 12 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM] 1580863 11256614,16381901,15489336,15489334,14702039,12790796,12477932,11230166,11076863,16712791,20379614 83594 NM_031438,AC008519,CH471086,AK098066,AK304010,AK309942,AL136592,BC026748,BC041099,BC042967,BU621954,CB131118 NP_113626,EAW49073,BAG53574,BAG64925,CAB66527,AAH26748,AAH41099,Q9BQG2,CAL37409 Hs.434289 DKFZp761I172 OTTHUMP00000222655|nucleoside diphosphate linked moiety X-type motif 12|nucleoside diphosphate-linked moiety X motif 12|nudix motif 12|peroxisomal NADH pyrophosphatase NUDT12 protein-coding 1349007 NUDT13 nudix (nucleoside diphosphate linked moiety X)-type motif 13 15489334,15164054,12477932,11329013,16385451,20877624 25961 AC016394,AL731721,CH471083,AK300980,AK303235,AK309755,AK316538,AL050114,NM_015901,BC038833,BC046173,BG191548,CR599355,CR619117,BC031224 NP_056985,CAI14547,CAI14548,CAI14549,EAW54471,EAW54472,EAW54473,EAW54474,EAW54475,BAG62602,BAG64321,BAH14909,CAB43279,AAH31224,AAH46173,Q4G134,Q86X67 Hs.533657 nucleoside diphosphate-linked moiety X motif 13|nudix motif 13 protein-coding 1321575 NUDT14 nudix (nucleoside diphosphate linked moiety X)-type motif 14 UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose 1-phosphate and UMP (Yagi et al., 2003 [PubMed 12429023]).[supplied by OMIM] 1580863 12620389,16344560,15489334,12508121,12477932,12429023 256281 NM_177533,AF111170,AL512355,CH471061,AB087802,AK128196,BC041584,DA249638,DA409636 NP_803877,AAD15563,EAW81902,EAW81903,EAW81904,EAW81905,BAC65455,BAG54649,AAH41584,O95848,ADR82737 Hs.526432 UGPP|UGPPase OTTHUMP00000163909|UDP-sugar diphosphatase|UDPG pyrophosphatase|nucleoside diphosphate linked moiety X-type motif 14|nucleoside diphosphate-linked moiety X motif 14|nudix motif 14|uridine diphosphate glucose pyrophosphatase protein-coding 1317982 NUDT15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 1580863 15489334,15057823,14702039,12767940,12477932,19419956,20144704 55270 NM_018283,AL158196,CH471075,AK001818,BC064607,BC107875,BC133015,BC133017,CR599539,BC050698 NP_060753,CAI17017,EAX08782,BAA91925,AAH64607,AAI07876,AAI33016,AAI33018,Q9NV35 Hs.144407 FLJ10956|MGC104352|MTH2|RP11-90M2.1 8-oxo-dGTPase NUDT15|A730068G11Rik|mutT homolog 2|nucleoside diphosphate-linked moiety X motif 15|nudix motif 15|nudix-type motif 15|probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15 protein-coding 1347227 NUDT16 nudix (nucleoside diphosphate linked moiety X)-type motif 16 737633,1580863 15489334,14702039,12477932,18607096,17567574,21070968,20385596,16712791,15342556,18820299,20081199 737633 131870 NM_152395,AC010210,CH471052,AK055827,AK295852,AK304650,BC009546,BC031215,CR593706,AK091353,AK093567,BP199028,BP219080,CB121755,CR604284,DC343245,NM_001171905,NM_001171906,NR_033268 NP_689608,EAW79210,BAB71024,BAG58658,BAG65426,AAH09546,AAH31215,Q96DE0,NP_001165376,NP_001165377 Hs.591313,Hs.282050 FLJ31265|FLJ34034|FLJ36248 U8 snoRNA-binding protein H29K|U8 snoRNA-decapping enzyme|nucleoside diphosphate-linked moiety X motif 16|nudix motif 16 protein-coding 1342997 NUDT16L1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 15635413,15489334,14702039,12477932,11805099,16344560,8889548,17207965 84309 NM_032349,AC023830,CH471112,AK092642,AK315456,BC006223,CR625044,BQ923183,BU739233,DA607298,NM_001193452 NP_115725,EAW85277,EAW85278,BAC03933,BAG37843,AAH06223,Q9BRJ7,NP_001180381,ADQ32796 Hs.513315 MGC11275|SDOS NUDT16-like protein 1|protein syndesmos protein-coding 1603358 NUDT16P nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 16344560,12477932 152195 NR_002949,NR_027766,AC010210,CH471052,AK000532,AK297126,BC015593,DA541046 EAW79211,BAG59631 Hs.726670,Hs.380350 FLJ20525|NUDT16P pseudo 1350013 NUDT17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 737633 16710414,14702039,12477932,8889549 737633 200035 NM_001012758,AL160282,CH471244,AA287243,AK091752,AK298083,BC046352,BG820863,CR624046 NP_001012776,EAW71432,EAW71433,BAG60370,P0C025 Hs.585066 FLJ34433 nucleoside diphosphate-linked moiety X motif 17|nudix motif 17 protein-coding 1605623 NUDT18 nudix (nucleoside diphosphate linked moiety X)-type motif 18 16713569,16344560,16189514,12477932,17207965,19060904 79873 NM_024815,AC091171,AC105206,CH471080,AK026147,AK124446,BC016902,CR607168,CR622192,DA015404 NP_079091,EAW63719,BAB15376,BAC85853,AAH16902,Q6ZVK8,ADQ32358 Hs.527101,Hs.703822 FLJ22494 nucleoside diphosphate-linked moiety X motif 18|nudix motif 18 protein-coding 1602031 NUDT19 nudix (nucleoside diphosphate linked moiety X)-type motif 19 16344560,16185196,20877624 390916 NM_001105570,AC008736,CA438814,DA658958,DN998957 NP_001099040,A8MXV4 Hs.203961 RP2 nucleoside diphosphate-linked moiety X motif 19, mitochondrial|nudix motif 19 protein-coding 1352613 NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and three transcript variants, all encoding the same protein, have been identified. [provided by RefSeq] 1580863 11738085,7487923,10452553,15772762,15489334,12767470,12673352,12477932,10620341,9650578,9479504,8810257,8381042,7767787,1652465,15596429,20144233,20877624 318 NM_001161,NM_147172,NM_147173,AL353662,AL356494,CH471071,AA398857,BC004926,BG622439,BM802700,U30313 NP_001152,NP_671701,NP_671702,CAI15964,EAW58461,EAW58462,EAW58463,AAH04926,AAC50277,P50583,ABM83899,ABM87220 Hs.493767 APAH1|MGC10404 Ap4A hydrolase 1|Ap4Aase|OTTHUMP00000021256|OTTHUMP00000021259|bis(5'-nucleosyl)-tetraphosphatase|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)|bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]|diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase|diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase|diadenosine tetraphosphatase|nucleoside diphosphate-linked moiety X motif 2|nudix motif 2 protein-coding 1313996 NUDT21 nudix (nucleoside diphosphate linked moiety X)-type motif 21 The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq] 1580863 8626397,11716503,14561889,15169763,12226669,11256614,18767156,18445629,17098938,16713569,16381901,16189514,16169070,15635413,15592455,15489336,15489334,15231747,14690600,12477932,11230166,11076863,11060040,9659921,17353931,20479262,17172643 11051 NM_007006,AC092140,CH471092,AJ001810,AK312721,AL535307,BC001403,BX537360,BX647665,CR456919,CR599085,CR603883,CR616196,CR617016,CR621599,CR625053 NP_008937,EAW82859,EAW82860,CAA05026,BAG35595,AAH01403,CAD97606,CAI46057,CAG33200,O43809,Q5HYH5,CAL37869,CAL38097,ABM83068,ABM86262 Hs.528834 CFIM25|CPSF5|DKFZp686H1588 CPSF 25 kDa subunit|cleavage and polyadenylation specific factor 5, 25 kD subunit|cleavage and polyadenylation specific factor 5, 25 kDa|cleavage and polyadenylation specific factor 5, 25 kda|cleavage and polyadenylation specificity factor 25 kDa subunit|cleavage and polyadenylation specificity factor subunit 5|nucleoside diphosphate-linked moiety X motif 21|nudix motif 21|pre-mRNA cleavage factor Im (25kD)|pre-mRNA cleavage factor Im 25 kDa subunit|pre-mRNA cleavage factor Im, 25kD subunit protein-coding 4891984 NUDT21P1 nudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1 100422467 AL445647,NG_024870 pseudo 1601846 NUDT22 nudix (nucleoside diphosphate linked moiety X)-type motif 22 15489334,12477932,20237496,19913121,20628086 84304 NM_032344,NM_001128612,NM_001128613,AP001453,AP006334,CH471076,BC006129,BG705568,CR602542,CR602818,CR614915,CR615814,CR619666,AK308555 NP_115720,NP_001122084,NP_001122085,EAW74204,EAW74205,EAW74206,EAW74207,EAW74208,EAW74209,EAW74210,EAW74211,AAH06129,Q9BRQ3 Hs.656074 MGC13045 nucleoside diphosphate-linked moiety X motif 22|nudix motif 22 protein-coding 1320933 NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM] 1580863 20935630,9822604,10419486,16189514,16169070,15489334,14574404,12477932,12370170,10585413,19585659,19893584 11165 NM_006703,AL355855,CH471081,Z98036,AF062529,AF062530,AK313440,BC007727,BC024593,BG714472,BT019984,BT019985 NP_006694,CAH72222,EAX03781,CAI19715,AAC83224,AAC83225,BAG36231,AAH07727,AAV38787,AAV38788,O95989,ABM84044,ABM87390 Hs.188882 DIPP|DIPP1 DIPP-1|diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 1|diphosphoinositol polyphosphate phosphohydrolase 1|nucleoside diphosphate-linked moiety X motif 3|nudix motif 3 protein-coding 1320353 NUDT4 nudix (nucleoside diphosphate linked moiety X)-type motif 4 The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq] 1580863 10777568,15489334,15252450,12477932,12370170,12121577,11376937,9455484,9373149,8125298 11163 CR602956,CR749445,DQ786307,NM_019094,AC025260,AC090050,AC124947,CH471054,AB007956,AF067803,AF191649,AF191650,AF191651,AF191652,AF191653,AF191654,AF191655,AK223497,AK304296,AK315778,BC012069,BC051310,BG777287,BM193309,BT020109,BT020110,CB961167,NM_199040 CAH18283,Q9NZJ9,ABM83125,ABM86320,NP_950241,NP_061967,EAW97475,EAW97476,EAW97477,EAW97478,EAW97479,BAE16985,AAF75563,AAF68855,AAF68856,AAF68857,AAF68858,AAF68859,BAD97217,BAH14152,BAG38126,AAH12069,AAH51310,AAV38912,AAV38913 Hs.506325 DIPP2|DIPP2alpha|DIPP2beta|DKFZp686I1281|HDCMB47P|KIAA0487 DIPP-2|diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 2|diphosphoinositol polyphosphate phosphohydrolase 2|diphosphoinositol polyphosphate phosphohydrolase type 2|nucleoside diphosphate-linked moiety X motif 4|nudix motif 4 protein-coding 1343260 NUDT4P1 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1 15342556,11376937 440672 NR_002212,AL359758,AF311215,AF311216,AK074343,BF588558,BP248127 Hs.601274 FLJ23763|NUDT4P2 pseudo 1344947 NUDT4P2 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2 11376937 170688 AF311216,AK074343 Hs.506325 pseudo 1345366 NUDT5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 Nudix hydrolases, such as NUDT5, eliminate toxic nucleotide derivatives from the cell and regulate the levels of important signaling nucleotides and their metabolites (McLennan, 1999 [PubMed 10373642]).[supplied by OMIM] 1580863 10567213,10722730,18462755,15592455,15489334,12717453,12477932,11042152,10373642,16169070,19699693,20144704 11164 CR591727,CR603893,CR608939,CR619447,CR622275,NM_014142,AC073160,AL512770,CH471072,AF155832,AF161464,AF218818,AK291131,AK314144,BC000025,BU602000,CR457195 Q9UKK9,NP_054861,EAW86320,EAW86321,EAW86322,AAF06734,AAF29079,AAF25479,BAF83820,AAH00025,CAG33476 Hs.555956 YSA1|YSA1H|hYSAH1 ADP-sugar pyrophosphatase|nucleoside diphosphate linked moiety X-type motif 5|nucleoside diphosphate-linked moiety X motif 5|nudix motif 5 protein-coding 735257 NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 FGF2 (MIM 134920) is a highly conserved, multifunctional heparin-binding growth factor involved in neuroectoderm development, angiogenesis, and wound healing. Elevated levels of FGF2 are associated with proliferation of smooth muscle in atherosclerosis and with proliferation of tumors. The FGF2 antisense gene, NUDT6, may regulate FGF2 expression.[supplied by OMIM] 1580863 19913121,20628086,19423540,20406964,20438785,20800603,7984147,19416273,19054571,18401527,17681892,17569023,17203973,15489334,15247275,12477932,11801566,11266510,10022609,9406864,7999082,16712791 11162 NM_198041,NM_007083,AC021205,CH471056,AB209758,AF019632,AF019633,AK291871,AK294450,BC009842,BG386740,CB128685 NP_932158,NP_009014,EAX05217,EAX05218,EAX05219,EAX05220,EAX05221,BAD92995,AAD01635,AAD01636,BAF84560,BAG57687,AAH09842,P53370,Q59EQ3,ABM84065,ABM87422 Hs.558459 ASFGF2|FGF-2|FGF-AS|FGF2AS|bFGF|gfg|gfg-1 OTTHUMP00000219776|antisense basic fibroblast growth factor|nucleoside diphosphate-linked moiety X motif 6|nudix motif 6|nudix-type motif 6 protein-coding 1350832 NUDT7 nudix (nucleoside diphosphate linked moiety X)-type motif 7 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 19844255,15616553,11415433 283927 NM_001105663,NR_024154,AC092134,AC092724,CH471114,AA227330,AA579048,AK026469,AK296963,BX494638,ES309123,EU981826,NG_028059 NP_001099133,EAW95595,EAW95596,BAG59507,ACH71652,P0C024,AAI72303 Hs.282665 nucleoside diphosphate-linked moiety X motif 7|nudix motif 7|peroxisomal coenzyme A diphosphatase NUDT7 protein-coding 1319158 NUDT8 nudix (nucleoside diphosphate linked moiety X)-type motif 8 1580863 15489334,14702039,12477932,11415433,20877624 254552 NM_181843,AP003385,CH471076,AK123561,BC018644,CR619375 NP_862826,EAW74660,EAW74661,BAC85646,AAH18644,Q8WV74 Hs.433329 FLJ41567 nucleoside diphosphate-linked moiety X motif 8, mitochondrial|nudix motif 8 protein-coding 1352650 NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 1580863 11385575,16860484,16303743,15489334,14702039,12975309,12948489,12897971,12477932,12427752,11825615,19574167 53343 NM_024047,NM_198038,AC112250,CH471057,CQ783706,AF265341,AF273028,AK027295,AK074845,AK075408,AK308028,AY026252,AY359123,BC000542,BI552154,BM544951,BQ446599,BU623625,CR597296,CR604538,CR619203,CR620878,CR626425 NP_076952,NP_932155,EAX05988,EAX05989,EAX05990,CAF86821,AAM46066,AAM46068,BAB55021,BAC11239,BAC11601,AAK07671,AAQ89480,AAH00542,Q8NG26,Q96KB3,Q9BW91 Hs.149500 MGC3037|NUDT10 ADP-ribose diphosphatase|ADP-ribose phosphohydrolase|ADP-ribose pyrophosphatase, mitochondrial|ADP-ribose pyrosphosphatase NUDT9|ADPR-PPase|OTTHUMP00000218561|OTTHUMP00000218562|adenosine diphosphoribose pyrophosphatase|nucleoside diphosphate linked moiety X-type motif 9|nucleoside diphosphate-linked moiety X motif 9|nudix motif 9 protein-coding 1345944 NUDT9P1 nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1 737633 18521090,15489334,12477932,16189514,19573479 737633 119369 NR_002779,AL731553,BC029544 Hs.441287 C10orf98|MGC34007|bA56M3.1 pseudo 1317446 NUF2 NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq] 15961401,17353931,17535814,11266451,19525938,19081476,18770861,17081983,16710414,16565220,15548592,15489334,15239953,15235793,15062103,14702039,14699129,14654001,14602875,12477932,12438418,11685532,15371340,16169070,19536175,19878654,20508983 83540 NM_145697,NM_031423,AL592435,CH471067,AB050577,AB050578,AF326731,AK093348,BC008489,BC021171,BI545465,CR605406,CR619637 NP_663735,NP_113611,CAI16704,CAI16705,CAI16706,EAW90735,EAW90736,EAW90737,BAB59141,BAB59142,AAK01426,BAC04140,AAH08489,AAH21171,Q9BZD4,ABM84096,ABM87468 Hs.651950 CDCA1|CT106|NUF2R cancer/testis antigen 106|cell division cycle associated 1|cell division cycle-associated protein 1|hNuf2|hNuf2R|hsNuf2|kinetochore protein Nuf2 protein-coding 1347229 NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 1580863 15107825,10556305,12941608,17081983,16344560,15489334,15057823,12477932,10894927,12837692,18029348,17636026,20201926 26747 NM_012345,AL354816,AL359706,CH471075,AF159548,AK314242,BC001436,BC017745,DA701559 NP_036477,CAC40689,CAI12865,EAX08719,AAF15315,AAH17745,Q9UHK0 Hs.525006 NUFIP|bA540M5.1 nuclear FMRP-interacting protein 1|nuclear fragile X mental retardation protein-interacting protein 1|nuclear fragile X mental retardation-interacting protein 1 protein-coding 1351975 NUFIP1P nuclear fragile X mental retardation protein interacting protein 1 pseudogene 10894927 89761 NG_001030,AL049842 pseudo 1606255 NUFIP2 nuclear fragile X mental retardation protein interacting protein 2 18029348,19615732,12837692,16407062,17081983,16964243,15489334,15345747,15324660,15144186,14702039,12477932,10718198,8889548 57532 NM_020772,AC005412,CH471159,AB037742,AJ493465,AK001838,AK293075,AK297732,AY232289,BC056662,BC108307,BC129989,BC129990,BM969349 NP_065823,EAW51186,EAW51187,BAA92559,CAD38278,BAF85764,BAG60082,AAP69984,AAI08308,AAI29990,AAI29991,Q7Z417 Hs.462598 182-FIP|82-FIP|FIP-82|FLJ10976|KIAA1321|MGC117262|PIG1 82 kDa FMRP-interacting protein|82-kD FMRP Interacting Protein|FMRP-interacting protein 2|Fragile X Mental Retardation Protein|cell proliferation-inducing gene 1 protein|nuclear fragile X mental retardation-interacting protein 2|proliferation-inducing gene 1 protein-coding 1318746 NUMA1 nuclear mitotic apparatus protein 1 1580863 19279220,20467816,20479129,16076287,15684076,15592455,15561764,15388855,15302935,14737102,12508117,12477932,11956313,11790298,10739661,10023777,9586635,9288109,8505359,8408288,8406455,7004645,12519782,11590136,12111331,12239178,10594058,10189366,11781568,10504299,12080061,11521196,10913114,15537540,1541630,1541636,14718566,19124506,18417561,18331640,17609108,17401638,17293864,17172455,17108325,17092945,17081983,16964243,16565220,16146802,14968112,17643375,18029348,19522705,19759176,20379614,20508983,7769006,8838651 4926 AF012302,AF110460,AP002490,CH471076,AB208841,AB210007,NM_006185,AK307577,AK309041,BC004165,BC008345,BC013023,BC027493,BC032228,BC036808,BC043499,BC068539,BC103765,BG771637,CR604035,CR606262,CR613390,Z11583,Z11584,Z14227,AK290509,Z14228,Z14229 NP_006176,AAC33408,AAD16994,EAW74821,EAW74822,EAW74823,EAW74824,EAW74825,EAW74826,EAW74827,EAW74828,EAW74829,EAW74830,EAW74831,BAD92078,BAE06089,BAF83198,AAH04165,AAH08345,AAH13023,AAH27493,AAH43499,AAI03766,CAA77669,CAA77670,Q14980,Q3SYK8,Q4LE64,Q59HB8,Q7Z757,Q86XH4,Q96HN5,Q9BTE9,Q9UNL7,Q9UPG3 Hs.325978 NUMA SP-H antigen|centrophilin stabilizes mitotic spindle in mitotic cells|nuclear mitotic apparatus protein 1|structural nuclear protein protein-coding 1348962 NUMB numb homolog (Drosophila) The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1334451,1580863 17203073,16002321,7596406,19468255,19344753,19138666,18599481,18384513,18179751,18172499,17903303,17609107,17301032,17115028,17081983,16964243,16865239,16508311,16394100,15492044,15489334,14702039,14670962,12942088,12775724,12682059,12646252,12606711,12477932,12011466,11922143,11782429,11752454,11121447,10468633,9632782,9535908,9303539,8755477,7568168,18628966,19795205 1334451 8650 NM_003744,NM_001005744,NM_001005743,AC004846,AC005280,AF109907,AL391733,CH471061,AA872908,AF015040,AF108092,AF171938,NM_001005745,AF171939,AF171940,AF171941,AK023670,AK226069,AK294591,AK300602,AK304193,AK315130,BC020788,BC033824,BC068476,BX248073,BX248775,BX248781,BX647137,CR600039,EU265734,EU265735,EU265736,EU265737,EU265738,L40393 NP_001005745,NP_003735,NP_001005744,NP_001005743,AAC97962,EAW81100,EAW81101,EAW81102,EAW81103,EAW81104,EAW81105,EAW81106,EAW81107,EAW81108,EAW81109,EAW81110,EAW81111,EAW81112,EAW81113,EAW81114,AAD01548,AAD27959,AAD54279,AAD54280,AAD54281,AAD54282,BAG57779,BAG62299,BAG65073,BAG37583,AAH20788,AAH33824,AAH68476,CAD62362,CAD66582,CAD66588,ABY89090,ABY89091,ABY89092,ABY89093,ABY89094,AAC42000,P49757,Q5D0E5,Q86SW5,Q86SW6 Hs.654609,Hs.714879 S171 h-Numb|protein numb homolog protein-coding 1316854 NUMBL numb homolog (Drosophila)-like 1580863 16713569,9303539,18940473,17081983,16899352,15489334,15324660,12477932,12011466,9225980,9169836,8755477,7568168,18299187,10896157,20079715 9253 NM_004756,AC010412,CH471126,AF015041,AK289398,AK299484,BC001794,BC016160,BC144583,BI552675,BT009807,U80758 NP_004747,EAW56986,AAD01549,BAF82087,BAH13046,AAP88809,AAB91449,Q9Y4I7,Q9Y6R0,AAI67835 Hs.326953 CAG3A|CTG3a|NBL|NUMB-R|NUMBLIKE|NUMBR|TNRC23 numb homolog-like|numb-like protein|numb-related protein protein-coding 732596 NUP107 nucleoporin 107kDa This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 12705868,9166401,15146057,12802065,20833136,11684705,11564755,18570875,17768364,17363900,17360435,17081983,16964243,16807356,16565220,15557116,15489334,15229283,14702039,12477932,12894213,12552102,12228227,10601273,19674973,19864462,20081840,20139978 57122 NM_020401,AC090061,AC124890,CH471054,AJ295745,AK002079,AK055629,AK094183,AK302773,AK315157,BC017167,BC017670,BC043343,CR600153,CR616821 NP_065134,EAW97194,EAW97195,CAC03716,BAG51012,BAG63979,AAH17167,AAH43343,P57740,Q6PJE1 Hs.524574 NUP84 107 kDa nucleoporin|nuclear pore complex protein Nup107|nucleoporin Nup107 protein-coding 1317249 NUP133 nucleoporin 133kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq] 1580863 11684705,11564755,18570875,17768364,17081983,16964243,16565220,15557116,15489334,14702039,12705868,12477932,12228227,10546895,10395558,9110174,8619474,15146057,19913121,20628086,10601273,17098863,17360435,17363900,19674973 55746 NM_018230,NG_011969,AL121990,AL139252,AL160004,CH471098,AF052123,AK001676,AK001754,AK022572,AK092339,AK304061,AK304861,AK314431,BC020107,CR593569 NP_060700,CAI22009,CAI22010,CAI22011,CAI22353,CAI22354,CAI19047,CAI19048,EAW69899,EAW69900,BAA91829,BAA91885,BAB14106,BAG64968,BAG65599,BAG37045,AAH20107,Q5TDI3,Q8WUM0,ABM85194,ABW03687 Hs.12457 FLJ10814|MGC21133|hNUP133 133 kDa nucleoporin|OTTHUMP00000037468|nuclear pore complex protein Nup133|nucleoporin Nup133 protein-coding 731840 NUP153 nucleoporin 153kDa Nuclear pore complexes are extremely elaborate structures that mediate the regulated movement of macromolecules between the nucleus and cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are pore complex-specific glycoproteins characterized by cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. The protein encoded by this gene has three distinct domains: a N-terminal region within which a pore targeting domain has been identified, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. [provided by RefSeq] 1580863 20936779,18029348,18391951,18068677,17916694,17615301,17426026,17081983,16964243,16543150,15659641,15632149,15302935,14718558,12917407,12802065,12477932,12192048,12191473,12163599,12138183,11777942,11598013,11574060,11567018,11266456,11238447,11073998,11024021,10749866,10668806,10629106,10202161,10069809,9847314,9275187,9114010,10891500,15522285,14578343,11896061,8110839,12228227,19158386,10601273,17255949,19369352,19615732 9972 NM_005124,AL138724,AL138824,AL157776,CH471087,AB210024,AK295644,AW269393,BC035502,BC052965,Z25535 NP_005115,CAI40945,CAI12246,CAI16393,EAW55384,EAW55385,BAE06106,BAG58514,AAH52965,CAA80982,P49790,Q4LE47,Q7Z743 Hs.601591,Hs.718703 HNUP153|N153 153 kDa nucleoporin|nuclear pore complex protein Nup153|nuclear pore complex protein hnup153|nucleoporin 153kd|nucleoporin Nup153 protein-coding 734441 NUP155 nucleoporin 155kDa Nucleoporins are the main components of the nuclear pore complex (NPC) of eukaryotic cells. They are involved in the bidirectional trafficking of molecules, especially mRNAs and proteins, between the nucleus and the cytoplasm. The protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. Two protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 1580863 10191094,19070573,15703211,15489334,15231748,14702039,14645504,12477932,12228227,12034489,9872452,8599106,10601273,19615732,20562859,20974814 9631 NM_153485,NM_004298,AC008832,AC025449,AC117532,AF165926,CH471119,AB018334,AJ007558,AK002103,AK297143,AK315028,AL117585,BC039257,BQ937467,BU601425 NP_705618,NP_004289,AAD52966,EAW55957,EAW55958,EAW55959,BAA34511,CAA07553,BAG51015,BAG59644,CAB56007,AAH39257,O75694 Hs.547696 KIAA0791|N155 155 kDa nucleoporin|OTTHUMP00000221170|nuclear pore complex protein Nup155|nucleoporin Nup155 protein-coding 1322303 NUP160 nucleoporin 160kDa NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM] 1580863 11684705,12477932,15231747,17353931,11564755,17363900,17360435,17081983,16807356,16565220,15489334,15146197,14702039,12228227,8724849,15146057,10601273,17098863,19576787,19615732,19864462,20081840,20974814 23279 NM_015231,AC021443,AC023232,CH471064,AK026236,AK302396,AK304308,AL832029,AL832813,BC008700,BC009822,BC125227,BC125228,BX647634,CR606216,D83781 NP_056046,EAW67878,EAW67879,EAW67880,EAW67881,EAW67882,EAW67883,BAB15406,BAG63710,BAG65161,AAH08700,AAH09822,AAI25228,AAI25229,BAA12110,Q12769 Hs.726147 DKFZp686M14102|MGC150678|MGC150679 160 kDa nucleoporin|nuclear pore complex protein Nup160|nucleoporin Nup160 protein-coding 1348104 NUP188 nucleoporin 188kDa 11029043,8724849,12228227,17353931,17567994,15146197,12477932,10601273,19596235,19615732 23511 NM_015354,AL592211,AL672142,CH471090,AK025292,BC005407,BC040352,BC111045,BX537774,CN297641,D79991,DQ656057 NP_056169,CAI12368,CAI10845,EAW87850,EAW87851,EAW87852,EAW87853,AAH05407,AAH40352,AAI11046,CAD97835,BAA11486,Q5SRE5,Q9BS12,AAI60096 Hs.308340 FLJ21639|KIAA0169 hNup188|nucleoporin NUP188 homolog protein-coding 1319746 NUP205 nucleoporin 205kDa 1580863 9348540,16344560,15703211,15489334,12477932,12228227,9039502,12802065,17353931,19615732,10601273,19454010,20562859 23165 DA111772,AC093107,CH236950,CH471070,AK293497,AK297307,BC044255,BC063612,BC073947,BC094868,BC136624,BC146784,CR600008,CR610966,D86978,NM_015135 BAA13214,Q4VBX7,Q6DKH1,Q6P486,Q92621,NP_055950,EAW83855,EAW83856,BAG56983,BAG59773,AAH44255,AAH63612,AAH73947,AAH94868,AAI36625,AAI46785 Hs.727517 C7orf14 205 kDa nucleoporin|nuclear pore complex protein Nup205|nucleoporin Nup205 protein-coding 1346505 NUP210 nucleoporin 210kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. [provided by RefSeq] 1580863 15231747,16702234,16641997,16565220,16337775,16303743,15710222,15613247,15489334,14702039,14517331,12653556,12477932,12228227,11782456,10546895,10469352,10048485,9373149,8672508,8125298,7504063,2195063,2184032,10601273,19851296,20198315,20379614 23225 NM_024923,AC027124,AC069246,CH471055,AB020713,AK026042,AK074101,AK075545,AK225409,AL117527,BC020573,BC067089,BC068109 NP_079199,EAW64150,EAW64151,EAW64152,EAW64153,EAW64154,BAA74929,BAB15332,BAB84927,BAC11688,CAB55979,AAH67089,Q8TEM1 Hs.475525 FLJ22389|GP210|KIAA0906|POM210 nuclear envelope pore membrane protein POM 210|nuclear pore membrane glycoprotein 210|nuclear pore protein gp210|nucleoporin Nup210|pore membrane protein of 210 kDa protein-coding 1344758 NUP210L nucleoporin 210kDa-like 16710414,14702039 91181 AK125924,AK128000,AK128108,AL133633,AL833964,BX648132,NM_207308,NM_001159484,AL358472,AL513546,AL590431,CH471121,HC007184,HC044631 EAW53238,BAC86345,BAC87225,BAC87279,CAB63757,CAD38812,Q5VU65,Q9UF31,NP_997191,NP_001152956,CAI14015,CAI14034,CAH70552,CAH71259,CBH19397,CBH30645 Hs.67639 RP11-144B19.1 nuclear pore membrane glycoprotein 210-like|nuclear pore membrane glycoprotein 210-like (LOC91181)|nucleoporin Nup210-like protein-coding 1316779 NUP214 nucleoporin 214kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. [provided by RefSeq] 1580863 11545741,8108440,12191473,12228227,19386703,19229862,19219046,18923437,18784740,18299449,17620317,17296573,17264208,17081983,16943420,16675447,16045929,15361874,15302935,14766228,14671643,12917407,12589057,12477932,12138183,11777942,11551912,11238447,11073998,10668806,10428971,10395558,9847314,7774911,7584028,7584026,2370860,1549122,9368759,11425870,9049309,8943370,9765402,9488438,9166401,9144189,9114010,10601273,16356933,18096310,18614052,19166587,19615732,19828735,20237496,20379614,20936779,20970119 8021 NG_023371,NM_005085,AL157938,CH471090,AB159230,AJ420413,AK302676,AK307573,AK310406,AK310476,AK310515,AK316417,AK316435,AL832609,BC012500,BC045620,BC105998,BM455135,BX537986,D14689,X64228 NP_005076,CAI41109,CAI41111,EAW87960,EAW87961,EAW87962,EAW87963,BAD07398,BAG63908,BAH14788,BAH14806,AAH45620,AAI05999,CAD97946,BAA03515,CAA45535,P35658,Q5JUP9,Q7Z3C4 Hs.654530 CAIN|CAN|D9S46E|MGC104525|N214 214 kDa nucleoporin|CAN protein, putative oncogene|OTTHUMP00000022384|nuclear pore complex protein Nup214|nucleoporin 214kD (CAIN)|nucleoporin Nup214|p250 protein-coding 1353367 NUP35 nucleoporin 35kDa This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is part of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. [provided by RefSeq] 1580863 17081983,16964243,16600873,15815621,15703211,15489334,12477932,12228227,12196509,17207965,18029348,10601273,18256286,20200978 129401 NM_138285,AC064871,AC079249,CH471058,AF411516,AF514993,AK289601,AK290760,AK298199,AK302350,BC022333,BC035597,BC047029,BC061698,BC111016,BI821231,CR615924,CR619859,CR624044 ADQ33128,NP_612142,AAY24198,AAX88896,EAX10948,AAL86379,AAM76704,BAF82290,BAF83449,BAG60469,BAG63676,AAH47029,AAH61698,Q8NFH5 Hs.180591 MP44|NP44|NUP53 35 kDa nucleoporin|MP-44|OTTHUMP00000205369|mitotic phosphoprotein 44|nuclear pore complex protein Nup53|nucleoporin NUP53|nucleoporin Nup35 protein-coding 1317159 NUP37 nucleoporin 37kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP37 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM] 1580863 15761153,15489334,15146057,14702039,12477932,12228227,12196509,10601273,17360435,17363900,19893584 79023 NM_024057,AC079907,CH471054,AF514994,AK026271,AK296733,AK310619,BC000861 NP_076962,EAW97688,EAW97689,AAM76705,BAB15422,BAG59320,AAH00861,Q8NFH4 Hs.444276 FLJ22618|MGC5585|p37 nucleoporin Nup37|nup107-160 subcomplex subunit Nup37 protein-coding 1605529 NUP43 nucleoporin 43kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM] 16381901,15489336,15489334,15146057,14702039,12477932,12228227,12196509,11230166,11076863,10601273,17360435,17363900 348995 BG527619,BG567254,BX647097,CB989591,BC065028,NM_198887,AJ334828,AL355312,AF514997,AK023349,AK074311,AK095994,AK301027,AK304244,AK304505,BC040121,BC046637,BC047539 AAH65028,Q8NFH3,Q8TEA6,CAL37556,NP_942590,AAM76708,BAB14536,BAB85046,BAG53192,BAG62643,BAG65112,BAG65313,AAH40121 Hs.510375 FLJ13287|bA350J20.1|p42 nucleoporin Nup43|nup107-160 subcomplex subunit Nup43 protein-coding 736309 NUP50 nucleoporin 50kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20016008,10449902,12228227,17081983,16964243,15489334,15461802,14702039,12477932,12361592,12176322,10891500,10891499,10591208,11447110,10601273,16648475,19596235,20379614 10762 NM_007172,NM_153645,AL008718,AL050007,CH471138,Z82243,AF107840,AF267865,AK095860,AK304223,AK314454,AL389949,AL389950,AL389951,AL704529,BC016055,BC020260,BC028125,BC039468,BC070133,BI461522,CR456533 NP_009103,NP_705931,CAI17944,CAQ08669,CAQ08670,EAW73370,EAW73372,EAW73373,CAI17926,CAQ07369,CAQ07370,CAQ07371,CAQ07372,CAQ07373,CAQ07374,CAQ07375,AAD53401,AAG44734,BAG65095,BAG37062,CAB97527,CAB97528,CAB97529,AAH16055,AAH28125,AAH70133,CAG30419,Q8N6V5,Q9H2I3,Q9NPQ3,Q9UKX7,CAK54564,CAK54863,ACE87793,ACT64427 Hs.727643 MGC39961|NPAP60|NPAP60L 50 kDa nucleoporin|OTTHUMP00000199539|nuclear pore complex protein Nup50|nuclear pore-associated protein 60 kDa-like|nuclear pore-associated protein 60L|nucleoporin Nup50 protein-coding 1353030 NUP50P1 nucleoporin 50 pseudogene 1 145375 NG_002384,AL049869 NUP50P pseudo 1606410 NUP50P2 nucleoporin 50 pseudogene 2 266785 NG_002388,AL133268 pseudo 2799973 NUP50P3 nucleoporin 50 pseudogene 3 266786 AC094103,NG_002389 pseudo 732578 NUP54 nucleoporin 54kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. 633404 20936779,8707840,16189514,15489334,14702039,12477932,12228227,10931946,10546895,10395558,9582382,9373149,8589458,8125298,7531196,2050741,10601273,11266456 633404 53371 NM_017426,AC110795,AC112719,CH471057,AF157322,AK001517,AK022106,AK222752,AK223352,AK307571,AK315160,AL137650,BC012559,BC034226,BX538002,CR624655,AK299442,AK300036 NP_059122,EAX05775,EAX05776,EAX05777,AAF67488,BAA91735,BAD96472,BAG37604,CAB70859,CAD97957,Q53FD7,Q53H29,Q7Z3B4,Q9NSY5,AAI56686,ABM86904,ABW03846,BAD97072,BAG61417,BAG61847 Hs.430435 MGC13407 54 kDa nucleoporin|OTTHUMP00000219174|nucleoporin p54 protein-coding 1349933 NUP62 nucleoporin 62kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq] 1580863 8650207,11852044,8589458,7744965,8618896,10356400,11244088,11755531,15953362,16648475,15625236,10373430,8702753,10799545,11013214,18029348,1915414,18809582,19144712,17960595,16786527,16730000,16381901,16189514,15522285,15507209,15489336,15489334,14718703,14702039,14667819,12477932,12228227,12163599,11553620,11310559,11266456,11256614,11238447,11230166,11113176,11076863,11073998,10781837,10668806,10395558,10330396,9373149,9367915,9114010,9102465,8757804,8707840,8537436,8125298,11425870,16169070,10601273,15175862,15820316,17098863,19615732,19828735,16344560,8889548,20622012 23636 NM_153719,NM_153718,NM_016553,NM_012346,AC011452,CH471177,AK000829,AK125857,AK225817,AL162061,BC003663,BC014842,BC050717,BC095410,BC101104,BC101105,BC101106,BC101107,CB961185,CR541721,X58521,AF318357,BG575286,BM672281,DA438104,DA856902,DA945913,DA949331,DB076767,NG_023448,NM_001193357 NP_714940,NP_714941,NP_057637,NP_036478,EAW52576,EAW52577,EAW52578,EAW52579,BAG54257,CAB82399,AAH03663,AAH14842,AAH50717,AAH95410,AAI01105,AAI01106,AAI01107,AAI01108,CAG46522,CAA41411,P37198,Q8WYU3,CAL38660,ABM83517,ABM87856,AAL55864,NP_001180286 Hs.574492 DKFZp547L134|FLJ20822|FLJ43869|IBSN|MGC841|SNDI|p62 62 kDa nucleoporin|nuclear pore glycoprotein p62|nucleoporin Nup62 protein-coding 1606555 NUP62CL nucleoporin 62kDa C-terminal like 18029348,16189514,15772651,15489334,14702039,12477932,10737800 54830 AL136112,AL390039,CH471120,AK000137,BC016327,BC017799,BF805909,BX105515,CR605049,DB448067,NM_017681,AI702317,NG_021315,NR_033676 NP_060151,CAC19637,CAI41568,CAI41569,EAX02718,EAX02719,EAX02720,EAX02721,BAA90968,AAH16327,AAH17799,Q9H1M0,Q5JSN5 Hs.163629 FLJ20130|RP13-383K5.2 OTTHUMP00000023801|nucleoporin-62 C-terminal-like protein protein-coding 1323659 NUP85 nucleoporin 85kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP85 is part of one such subcomplex, Nup107-160. [provided by RefSeq] 17395051,15995708,15146057,14702039,12477932,12228227,12196509,14767062,16169070,10893222,7592789,12706117,10601273,19454010,10753751,17360435,17363900,19576787,19615732,19841162 79902 NM_024844,AC022211,CH471099,AF498261,AF514995,AK022611,AK124501,AK297574,AK298519,AK302426,AL833893,BC000697,CR614721,AK295694 NP_079120,EAW89251,AAM18528,AAM76706,BAB14130,BAG54043,BAG59965,BAG60723,BAG63729,CAD38749,AAH00697,Q9BW27,BAH12158 Hs.362817 FLJ12549|Nup75 85 kDa nucleoporin|frount|nuclear pore complex protein Nup85|nucleoporin Nup75|nucleoporin Nup85|pericentrin 1|pericentrin-1 protein-coding 733611 NUP88 nucleoporin 88kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. [provided by RefSeq] 1580863 18029348,9049309,12228227,18068677,17081983,17007055,16964243,16675447,15489334,15300515,14999780,12589057,12477932,12094380,11248054,11073820,10967423,10554006,10395558,9488438,9373149,9205132,8125298,20973273,17828493,20497554,10601273,16169070,17650673,18606815,19615732,19700630,19751906 4927 NM_002532,AC004148,CH471108,AK225247,AK308142,BC000335,BI552947,Y08612,BF594453,BX956129,AK298158,AK299000 NP_002523,EAW90340,EAW90341,EAW90342,AAH00335,CAA69904,Q99567,BAG60432,BAH12922 Hs.584784 MGC8530 88 kDa nucleoporin|karyoporin|nuclear pore complex protein 88|nuclear pore complex protein Nup88|nucleoporin Nup88 protein-coding 1323029 NUP93 nucleoporin 93kDa 20562859,10601273,16600873,19615732,20031564,20085707,17353931,12228227,16344560,16286466,15489334,15009096,14702039,12477932,9531546,9348540,7788527,12802065 9688 AK294176,NM_014669,AC012181,AC106779,AC127456,CH471092,AF086282,AK056637,AK292262,BC034346,CR612078,CR612276,CR624290,D42085,DA587787 BAH11689,NP_055484,EAW82887,BAG51770,BAF84951,AAH34346,BAA07680,Q8N1F7 Hs.276878 KIAA0095|MGC21106 93 kDa nucleoporin|nuclear pore complex protein Nup93|nucleoporin Nup93 protein-coding 733793 NUP98 nucleoporin 98kDa Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kD nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kD precursor protein. This cleavage results in the 98 kD nucleoporin as well as a 96 kD nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kD nucleoporin functions as one of several docking site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following chromsome translocatons in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq] 1580863,737758 16479161,20936779,20554795,20498086,9348540,7736573,15229283,10087256,19240061,19000832,18604245,18566322,18388181,18287282,18084320,18045934,17589499,17442773,17287853,17178874,17081983,16964243,16861351,16565220,16286466,15951287,15725483,15681849,15489334,15454493,15359631,15302935,15207818,14966272,14718558,14561764,14554087,14517296,12970787,12931227,12589057,12477932,12228227,12191480,12138901,12112533,12082612,11986249,11950939,11830496,11809937,11782354,11684705,11564755,11493482,11248057,11238447,11106761,10875935,10668806,10556215,10209021,9858599,9847314,9166830,9114010,8943370,8707840,8563754,8563753,9368759,11551912,12802065,9275187,11352911,11073998,17353931,15629720,9144189,20237156,10601273,16651408,19454010,20861915,20558618,14968112,15146057,16344560,17360435,17650673,18832153,19615732,19665070,19696924,19789179,19828735,20339440 737758 4928 NM_139132,NM_016320,NM_005387,NM_139131,AB038344,AC060812,AC090587,CH471158,AB040538,AF071076,AF071077,AF116074,AF231130,AK292882,AK301512,AL133601,AL137613,BC012906,BC041136,BG773331,BT007349,CR591489,EF071958,U41815,DB084013 NP_624358,NP_057404,NP_005378,NP_624357,BAB11850,EAX02561,EAX02562,EAX02563,EAX02564,EAX02565,EAX02566,BAB18537,AAD22395,AAD22396,AAF19342,AAL56659,BAF85571,BAG63020,CAB63736,CAB70842,AAH12906,AAH41136,AAP36013,ABK59096,AAC50366,P52948,Q9HDC8 Hs.524750 ADIR2|NUP196|NUP96 GLFG-repeat containing nucleoporin|Nup98-Nup96|OTTHUMP00000013954|nuclear pore complex protein Nup98-Nup96|nucleoporin 98 protein-coding 1353907 NUPL1 nucleoporin like 1 This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 15489334,15342556,14702039,12477932,12228227,11266456,9455477,8889548,7531196,10601273,20936779 9818 NM_001008564,AL138958,AL359556,AL590787,AL646102,CH471075,AB007870,AF113020,AK025800,AK026604,NM_014089,AK123955,AK302946,AK303409,BC001104,BG330006,BM976542,BP249090,CR605945,CR618238 NP_054808,NP_001008564,CAH71290,CAI39898,CAI39901,CAI39902,CAH72184,EAX08368,EAX08369,EAX08370,EAX08371,BAA23706,BAG53985,BAG64103,BAG64462,AAH01104,Q9BVL2 Hs.310453,Hs.712785 KIAA0410|PRO2463 OTTHUMP00000018148|OTTHUMP00000214939|nucleoporin p58/p45|nucleoporin-like protein 1 protein-coding 1344412 NUPL2 nucleoporin like 2 1580863 10358091,12228227,16000379,15820316,15489334,12690205,12477932,11691994,10610322,10228171,9621063,9450185,16120388,20936779,10601273,19615732,20379614,20487506 11097 NM_007342,AC005082,CH236948,CH471073,AI352214,AK298183,AK300113,AK312991,BC005327,BC039333,BC107583,BT007409,CR592218,CR601421,CR604064,CR607673,CR610836,CR612404,CR616085,CR622034,CR623982,CR625401,DC398445,U97198 EAL24260,EAW93775,EAW93776,EAW93777,EAW93778,EAW93779,BAG60454,BAG61908,BAG35828,AAH05327,AAH39333,AAI07584,NP_031368,AAP36077,AAC33794,O15504,Q3B7J4 Hs.408241 CG1|NLP-1|NLP_1|hCG1 H_RG271G13.9|NUP42 homolog|OTTHUMP00000202054|OTTHUMP00000202058|nucleoporin hCG1|nucleoporin-like protein 1|nucleoporin-like protein 2 protein-coding 736958 NUPR1 nuclear protein, transcriptional regulator, 1 20181828,10092851,18690848,17116693,17101797,17016631,16628001,16478804,16300740,16294328,16101158,15854263,15781258,15489334,15342556,12477932,12174869,11940591,10493829,10493524,9405444,19153668,19650074,19915574,19946894,20335521,20890585,19723804 26471 NM_001042483,NM_012385,AC002425,AC020765,AF069074,CH471279,AF069073,AF135266,BC002434,BF965595,BP214401,BT006896,CR542144,CR592498 NP_001035948,NP_036517,AAC05335,AAC05336,AAC19385,EAW52274,EAW52275,EAW52276,AAC19384,AAD49221,AAH02434,AAP35542,CAG46941,O60356 Hs.513463 COM1|P8 candidate of metastasis 1|nuclear protein 1|protein p8 protein-coding 1317328 NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 17764014,16835300,15489334,14574404,12477932,9294218,19723497 116150 AL590303,CH471051,Z98172,AJ420576,AK025467,AK125119,AK126335,AK130093,BC013026,BC063794,BC066910,BC110325,NM_138459,BC150654,BC150655 NP_612468,CAH71370,EAW48201,CAI19895,BAG54148,AAH13026,AAH63794,AAH66910,AAI10326,AAI50655,AAI50656,Q96E22 Hs.289008 C6orf68|MGC117249|MGC7199|MGC:7199|NgBR nogo-B receptor protein-coding 3340337 NUS1P1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 1 729148 CH471164,NG_023027,Z84466 EAW59309 pseudo 3077881 NUS1P2 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2 646208 AL157931,NG_008458 pseudo 3466382 NUS1P3 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 3 9294218 11049 NG_024900,AL359736,NG_006509,U82319 AAB72234 Hs.525826 YDD19 pseudo 3102882 NUS1P4 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 4 100130167 AL356423,NG_021964 pseudo 1313993 NUSAP1 nucleolar and spindle associated protein 1 12963707,16344560,14702039,12477932,9373149,8125298,17643375,20053754 51203 NM_018454,NM_001129897,AC087721,CH471125,AF090915,AF217513,AF290612,AF305711,AK023483,AK222819,AK225703,AK290879,AK293168,AK307728,AL833611,BC001308,BC010838,BC011008,BC012887,BC024772,BG259258,NM_016359,CR591711,CR596878,CR605213,CR610122,CR623224,DB046574 NP_057443,NP_060924,NP_001123369,EAW92482,EAW92483,EAW92484,EAW92485,EAW92486,AAF24034,AAF67624,AAK28023,AAG25874,BAB14586,BAD96539,BAF83568,BAG56712,AAH01308,AAH10838,AAH12887,AAH24772,Q9BXS6,ABM82514,ABM85708 Hs.615092 ANKT|BM037|FLJ13421|LNP|NUSAP|PRO0310p1|Q0310|SAPL nucleolar and spindle-associated protein 1|nucleolar protein ANKT protein-coding 1345837 NUTF2 nuclear transport factor 2 The protein encoded by this gene is a cytosolic factor that facilitates protein transport into the nucleus. It interacts with the nuclear pore complex glycoprotein p62. This encoded protein acts at a relative late stage of nuclear protein import, subsequent to the initial docking of nuclear import ligand at the nuclear envelope. It is thought to be part of a multicomponent system of cytosolic factors that assemble at the pore complex during nuclear import. [provided by RefSeq] 9102465,16169070,7744965,19404486,18266911,15522285,15489334,12477932,11310559,11129791,10679025,9822603,9562972,9533885,9368653,8757804,8707840,7458421,3380696,19060906,19060911 10204 NM_005796,AC040162,CH471092,AK293739,AK311822,BC002348,BC033653,CR456937,CR598520,CR601661,CR605590,CR611844,CR613501,CR621393,CR621534,U43939,X07315 NP_005787,EAW83181,EAW83182,BAG57163,BAG34764,AAH02348,CAG33218,AAA85905,CAA30278,P61970,ACE87137,ACE86456 Hs.726192 NTF2|PP15 NTF-2|nuclear transport factor 2|placental protein 15 protein-coding 1343027 NUTF2P2 nuclear transport factor 2 pseudogene 2 326613 NG_002603,AL162311 pseudo 1322636 NVL nuclear VCP-like 1580863 18029348,9286697,16782053,15489334,15469983,12477932,12429849,10737800,8889548,16169070,12927788,21042317,19851296,20198315 4931 NM_002533,NM_206840,AC092809,CH471098,AF401208,AW997091,BC005897,BC012105,BQ883523,BU683548,U68140,U78772,AK293923,AK297070,AK297396,AK298244,AK298826 NP_002524,NP_996671,EAW69714,EAW69715,EAW69716,AAL02167,AAH05897,AAH12105,AAB70457,AAB70460,O15381,Q96PA2,BAG57304,BAG59590,BAG59836,BAG60510,BAG60956 Hs.497867 NVLp|OTTHUMP00000216593|OTTHUMP00000216594|OTTHUMP00000216600|nuclear VCP-like protein|nuclear valosin-containing protein-like protein-coding 1604179 NWD1 NACHT and WD repeat domain containing 1 14702039,12477932,8889548,20379614 284434 NM_001007525,AC008737,AA535500,AK026798,AK090685,BC117698,BU685952,BX648940,CR749794 NP_001007526,AAI17699,CAH18655,Q149M9 Hs.406014 MGC134940 NACHT and WD repeat domain-containing protein 1 protein-coding 737301 NXF1 nuclear RNA export factor 1 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 9175835,10924507,11583626,15184380,19019956,18670889,17978099,17609285,17333237,17001072,16971948,16713569,16344560,16189514,15767397,15489334,15210956,14963046,14702039,12581645,12477932,12384575,12093754,11875519,11854490,11724776,11707413,11566096,11551912,11546874,11546873,11259411,11256625,11073998,11060011,10668806,10454577,9933612,9660949,9166830,15358174,10323864,10228171,10202158,16014633,17036044,19165146,19369354,19586903,19836239,19924249,20015986,20071484,16341674 10482 NM_001081491,NM_006362,AP001160,CH471076,AB209915,AF112880,AF126246,AJ132712,AK027192,AK304082,AK304137,AK304743,AK307961,AK307998,AV750251,AW005685,BC004904,BC017421,BC028041,BM751313,CR594029,CR597811,CR749674,DB141140,U80073 NP_001074960,NP_006353,EAW74103,EAW74104,EAW74105,EAW74106,EAW74107,BAD93152,AAD39102,AAD20016,CAA10753,BAG64989,BAG65031,BAG65502,AAH04904,AAH28041,CAH18465,AAB81111,Q59E96,Q68CW9,Q9UBU9,ABM83857,ABM87179 Hs.523739,Hs.601546 DKFZp667O0311|MEX67|TAP mRNA export factor TAP|nuclear RNA export factor 1|nuclear rna export factor 1 homolog (s. cerevisiae)|tip associating protein|tip-associated protein|tip-associating protein protein-coding 1344828 NXF2 nuclear RNA export factor 2 This gene is one of a family of nuclear RNA export factor genes. It encodes a protein that is involved in mRNA export, is located in the nucleoplasm, and is associated with the nuclear envelope. Alternative splicing seems to be a common mechanism in this gene family. Two variants have been found for this gene. [provided by RefSeq] 1580863 18258234,18029348,15772651,15489334,14702039,12477932,11566096,11279525,11073998,10567585,16014633 56001 NM_017809,NM_022053,AL356322,Z70689,Z81367,AF285596,AJ277526,AJ277659,AK000423,AK057385,AK093310,AL157436,BC015020,BX647232 NP_060279,NP_071336,CAI41980,CAI42026,CAI42027,AAK31975,CAC16588,CAC20433,BAA91154,CAB75659,AAH15020,Q5H9J9,Q9GZY0,ABM82066,ABM85245 Hs.530358 CT39|FLJ20416|NXF2B|TAPL-2 OTTHUMP00000023710|OTTHUMP00000023711|OTTHUMP00000023712|TAP like protein 2|TAP-like protein 2|cancer/testis antigen 39|nuclear RNA export factor 2 protein-coding 1626558 NXF2B nuclear RNA export factor 2B 11073998,18029348,16382448,15772651,15489334,14702039,12704671,11566096,11279525,10567585 728343 NM_001099686,AL590069,CH471190,AK303069 NP_001093156,CAD13494,CAI40394,CAI40395,EAW54741,BAG64186,Q9GZY0 Hs.648337 FLJ54838|NXF2|bA353J17.1 CT39|OTTHUMP00000024327|OTTHUMP00000024328|OTTHUMP00000024330|TAP-like protein 2|TAPL-2|cancer/testis antigen 39|nuclear RNA export factor 2|nuclear RNA export factor 2-like protein-coding 1354288 NXF3 nuclear RNA export factor 3 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq] 1580863 11545741,15489334,14702039,12477932,11566096,11073998,16189514,19060904,18029348 56000 NM_022052,NG_012572,CH471190,Z75746,AF346619,AJ277527,AJ277660,AK057086,AK302447,AK302586,BC031616,CR600948,CR615935 NP_071335,EAW54722,CAI41984,CAI41986,AAL07564,CAC16589,CAC20434,BAG63743,BAG63839,AAH31616,Q9H4D5,ABM82245,ABM85429 Hs.60386 OTTHUMP00000023727|TAP-like protein 3|TAPL-3|nuclear RNA export factor 3 protein-coding 1603388 NXF4 nuclear RNA export factor 4 pseudogene 11566096,11073998 55999 NR_002216,AL035551,CH471190,AK124700 EAW54735,BAC85929,Q6ZVD3 Hs.454283 FLJ42710 pseudo 1346108 NXF5 nuclear RNA export factor 5 This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq] 1580863 11566096,18029348,19377476,14759258,12784308,12477932,11073998 55998 NM_032946,NG_009851,NR_028089,AL672207,CH471115,Z70228,Z70758,AJ277654,AJ277655,AJ277656,AJ277657,AJ277658,BC131708 NP_116564,CAI42475,CAI42476,CAI42477,CAI42478,EAX02892,EAX02893,EAX02894,EAX02895,EAX02896,CAC20428,CAC20429,CAC20430,CAC20431,CAC20432,AAI31709,Q9H1B4 Hs.307077 OTTHUMP00000023702|OTTHUMP00000217639|TAP-like protein 1|TAPL-1|nuclear RNA export factor 5 protein-coding 1321419 NXN nucleoredoxin 1580863 19308021,17567240,14702039,12477932,10903915,9119370,17353931,16764867,19615732 64359 NM_022463,AC015884,AC036164,AC087392,CH471108,AF086523,AK022676,AK027451,AK297990,AK302073,AY189690,BC009327,BC063828,BC073845,BC104634,BU856030,CR607415,CR617445 NP_071908,EAW90639,EAW90640,EAW90641,BAB14171,BAB55122,BAG60298,BAG63462,AAO85223,AAH09327,AAH63828,AAH73845,AAI04635,Q56VW5,Q6DKJ4,Q7L4C6,AAI52723,AAI53026 Hs.527989 FLJ12614|NRX|TRG-4 nucleoredoxin|nucleoredoxin 1 protein-coding 1350601 NXNL1 nucleoredoxin-like 1 737633,1580863 17207965,19402160,18474255,17286855,17249548,15220920,12477932,19843539 737633 115861 NM_138454,AC010319,CH471106,BC014127,DQ426894 ADQ33150,NP_612463,EAW84608,AAH14127,ABD90545,Q0QD37,Q96CM4 Hs.661836 RDCVF|TXNL6 nucleoredoxin-like protein 1|rod-derived cone viability factor|thioredoxin-like 6|thioredoxin-like protein 6 protein-coding 1351751 NXNL2 nucleoredoxin-like 2 737633 17764561,15489334,15164053,12477932 737633 158046 NM_145283,NM_001161625,AL162729,AL592486,CH471089,BC022521,BI517442 NP_660326,NP_001155097,EAW62756,AAH22521,Q5VZ03 Hs.668937 C9orf121|RDCVF2 nucleoredoxin-like protein 2 protein-coding 737134 NXPH1 neurexophilin 1 This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq] 18762592,18464913,15489334,14702039,12880961,12853948,12690205,12477932,12141453,9856994,9570794,8699246,17207965,20877300,20732627,20080650,20100581,20379614 30010 NM_152745,AC004457,AC004613,AC004861,CH236948,CH471073,AA575925,AB047362,AB073665,AK091655,AK095624,AK296248,AK315141,BC047505,BX107562 NP_689958,EAL24301,EAW93621,EAW93623,BAB69044,BAE45730,BAC03713,BAG53094,BAG58963,BAG37590,AAH47505,P58417,Q3LID8,ADQ32481 Hs.487564 NPH1|Nbla00697 OTTHUMP00000200862|OTTHUMP00000200863|OTTHUMP00000200864|neurexophilin-1 protein-coding 1344701 NXPH2 neurexophilin 2 1580863 9570794,15489334,12477932,8699246,19478329 11249 BC104741,NM_007226,AC092620,AC092837,AC110421,AB162675,AF043467,BC101461,BC101462,BC101463 NP_009157,BAD11132,AAD02280,AAI01462,AAI01463,AAI01464,AAI04742,O95156,Q494R3 Hs.435019 MGC125477|MGC125478|MGC125479|MGC125480|NPH2 neurexophilin-2 protein-coding 735663 NXPH3 neurexophilin 3 1580863 15340161,9570794,15489334,12975309,12477932,10574461,9856994,8699246,7566098,17474147 11248 NM_007225,AC006487,CH471109,AA325150,AB032985,AF043468,AK308928,AL834282,AY358526,BC022541,CR600551 NP_009156,EAW94676,BAA86473,AAD02281,CAD38956,AAQ88890,AAH22541,O95157 Hs.55069 NPH3 neurexophilin-3 protein-coding 736634 NXPH4 neurexophilin 4 1580863 12477932,17207965,9570794,15489334,14702039,12975309 11247 NM_007224,AC137834,AF043469,AK094231,AK290949,AY358614,BC036679,BC053581,BU633375 ADQ32554,NP_009155,AAD02282,BAF83638,AAQ88977,AAH36679,AAH53581,O95158 Hs.726346 NPH4 neurexophilin-4 protein-coding 1319614 NXT1 NTF2-like export factor 1 The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. 1580863 11566096,10567585,16189514,15489334,12477932,11780052,11756420,11739738,11583626,11259602,11149927,11073998,10848583,10228171,12483225,19060904 29107 NM_013248,AL096677,CH471133,AF156957,AK026360,BC000759,BC002687,BC003029,BC003410,CR620694 NP_037380,CAC03437,EAX10163,AAD54942,AAH00759,AAH02687,AAH03029,AAH03410,Q9UKK6 Hs.516933 MTR2|P15 NTF2-related export protein 1|NTX2-like export factor1|NUTF-like export factor 1|protein p15 protein-coding 1350653 NXT2 nuclear transport factor 2-like export factor 2 1580863 15772651,15489334,14702039,12477932,11073998,11042152,16189514 55916 NM_018698,AL031387,CH471120,AF201942,AF212223,AF246127,AJ277591,AJ278323,AK023289,BC014888,BC120984,BC120985,CS300605 NP_061168,CAI42967,CAI42968,CAI42969,EAX02677,EAX02678,EAX02679,EAX02680,AAF86878,AAF87325,AAF78034,CAB96371,CAC01129,BAB14511,AAI20985,AAI20986,Q9NPJ8,CAK32269 Hs.25010 P15-2 NTF2-related export protein 2|OTTHUMP00000023841|protein p15-2 protein-coding 1348812 NYS2 nystagmus 2, congenital autosomal dominant 8414024,5504065 4933 1344117 NYS3 nystagmus 3, congenital autosomal dominant 9806847 4934 1349581 NYS4 nystagmus 4, congenital autosomal dominant 317685 1350886 NYX nyctalopin The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq] 1580863,1601021 11062471,18617546,17392683,16670814,16553780,15772651,15761389,15489334,15331616,14507859,12552565,12506099,12477932,12397430,11062472,9418727,2574143,20801516 1601021 60506 NM_022567,NG_009112,CH471141,Z93015,AF254868,AJ278865,BC112242 NP_072089,EAW59399,EAW59400,EAW59401,CAI42364,AAG42685,CAC19014,AAI12243,Q9GZU5,ADR83370 Hs.302019 CLRP|CSNB1|CSNB4|MGC138447 OTTHUMP00000023146|leucine-rich repeat protein|nyctalopin protein-coding 1351006 OA3 ocular albinism 3 (autosomal recessive) 1632442 4936 1602422 OAF OAF homolog (Drosophila) 17207965,12477932 220323 NM_178507,AP000679,CH471065,CS208007,AY459296,BC008339,BC047726,CR600676,CR603084,CR606518,CR609690,CR610860,CR617263,CR617508,HB867192 ADQ33078,NP_848602,EAW67502,CAJ44929,AAR23238,AAH47726,Q86UD1,CBF57582 Hs.445081 MGC52117|NS5ATP13TP2 HCV NS5A-transactivated protein 13 target protein 2|out at first protein homolog protein-coding 1342665 OAP osteoarthrosis, precocious 4937 1345660 OAS1 2',5'-oligoadenylate synthetase 1, 40/46kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 20079393,21050126,16712791,2440675,3754863,18029348,19434718,19247438,17360168,17092260,16824203,16644715,16541075,16235172,16014697,15865429,15855350,15850793,15766558,15732009,15489334,14702039,12944978,12477932,12447867,12082089,11986302,11980899,11092454,10464285,9790745,9407111,9373149,8125298,6348777,3753689,3175763,3121313,2830497,2456211,2426799,2416561,2411547,1708818,1651324,17963609,20588308,20628624,20679634,19462904,19515215,19559055,19575500,19665006,19799013,19956105 4938 HI179068,HI179070,HI179072,NM_001032409,NM_016816,NM_002534,NG_011530,A14571,A14573,AC004551,CH471054,DQ445949,DQ473588,M11809,M11810,M18099,X06560,X07179,AJ629455,AK123528,AK223006,AK225384,AK291003,AK300346,AK301498,AY730627,AY730628,BC000562,BC071981,BE048946,BF055326,BT006785,CB112445,CR590221,CR603997,CR613331,CR621070,CR626748,D00068,X02661,X02874,X02875,X04371,BC061587 CBX53842,CBX53843,CBX53844,NP_058132,NP_001027581,NP_002525,CAA01166,CAA01167,EAW98019,EAW98020,EAW98021,EAW98022,EAW98023,ABE27977,ABE27978,AAB59552,AAB59553,AAA59955,CAA29803,CAA30164,CAF33358,BAD96726,BAF83692,BAG62090,BAG63009,AAW63049,AAW63050,AAH00562,AAH61587,AAH71981,AAP35431,BAA00047,CAA26497,CAA26633,CAA26634,CAB51602,P00973,Q1P9K4,Q3ZM02,ABM82818,ABM86005 Hs.524760 IFI-4|OIAS|OIASI (2-5')oligo(A) synthase 1|(2-5')oligo(A) synthetase 1|2',5'-oligo A synthetase 1|2'-5' oligoadenylate synthetase 1 p48 isoform|2'-5' oligoadenylate synthetase 1 p52 isoform|2'-5'-oligoadenylate synthase 1|2'-5'-oligoadenylate synthetase 1|2'-5'-oligoisoadenylate synthetase 1|2-5A synthase 1|2-5A synthetase 1|E18/E16|p46/p42 OAS protein-coding 1348906 OAS2 2'-5'-oligoadenylate synthetase 2, 69/71kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 2440675,16541075,16014697,15489334,12477932,12447867,11092454,10464285,9790745,9521856,8259037,3350819,2470369,2211721,1708818,1577824,21050126,19559055,19853919,20588308 4939 BE885222,BQ213828,CR592869,CR623050,M87284,M87434,NM_016817,NM_002535,NM_001032731,AC004551,CH471054,AF074990,AK292796,AK292906,BC010625,BC023637,BC049215,BC053870,BC069052 AAH69052,AAA60606,AAA60607,P29728,Q6PJ33,Q7Z6D0,NP_058197,NP_002526,NP_001027903,EAW98026,EAW98027,BAF85485,BAF85595,AAH10625,AAH23637,AAH49215,AAH53870 Hs.414332 MGC78578 (2'-5')oligo(A) synthetase 2|(2-5')oligo(A) synthase 2|(2-5')oligo(A) synthetase 2|2'-5'-oligoadenylate synthase 2|2'5' oligoadenylate synthetase 2|2-5A synthase 2|2-5A synthetase 2|p69 OAS / p71 OAS|p69OAS / p71OAS protein-coding 1347854 OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq] 1580863 2440675,17408844,16541075,16014697,12477932,12447867,11280764,11112351,9880533,9790745,9346316,1708818,21050126,19559055,19667218,20588308,20628624 4940 CR602049,W47620,AC004551,AF251351,CH471054,AB044545,AF063613,AK000608,AK292949,BC012015,BC113746,BG390192,BG765554,BM474470,BU558279,BU860096,NM_006187,HC085308,HC195039 Q2HJ14,Q9Y6K5,NP_006178,EAW98024,EAW98025,BAB18647,AAD28543,BAF85638,AAI13747,CBI67637,CBI70412 Hs.528634 MGC133260|p100 (2-5')oligo(A) synthase 3|(2-5')oligo(A) synthetase 3|2'-5'-oligoadenylate synthase 3|2'-5'oligoadenylate synthetase p100|2-5A synthase 3|2-5A synthetase 3|p100 OAS|p100OAS protein-coding 1346146 OASD ocular albinism and sensorineural deafness 4941 1318443 OASL 2'-5'-oligoadenylate synthetase-like 1580863 9826176,7776974,18029348,18571276,16541075,16235172,15489334,14728690,14702039,12477932,10087211,9722630,776974,21203500,20581827,20588308,18931074,19559055,20074559,20379614,20889853,21050126 8638 NM_198213,NM_003733,AC079602,CH471054,L40387,AJ225089,AK023956,AK314419,AL711263,BC117408,BC117410,BG744291,BM918192,CR609351 NP_937856,NP_003724,EAW98235,EAW98236,EAW98237,EAW98238,AAC41733,CAA12396,BAG51241,BAG37039,AAI17409,AAI17411,Q15646,ADR83055 Hs.118633 TRIP14|p59OASL 59 kDa 2'-5'-oligoadenylate synthase-like protein|59 kDa 2'-5'-oligoadenylate synthetase-like protein|TR-interacting protein 14|TRIP-14|p59 OASL|thyroid receptor-interacting protein 14 protein-coding 1350711 OAT ornithine aminotransferase (gyrate atrophy) This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme is the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. [provided by RefSeq] 1600292,1580863 20877624,3456579,17353931,2793865,16713569,16096275,15489334,12477932,9878407,9514741,9309222,7932736,7887415,7668253,6462326,3816496,3754226,3596985,3375240,3339136,3170546,2507357,2373169,2363680,1737786,1682785,1618792,1612597,16169070,20602615,19615732 1600292 4942 NM_000274,NG_008861,AL445237,CH471066,M29927,M88760,AB208817,AK312561,BC000964,BC016928,CR457045,CR604740,CR605069,CR749808,DB459793,M12267,M14963,M23204,S66418,S66421,Y07511,AK296032,AK315947,NM_001171814,R37569 NP_000265,CAI17293,EAW49271,EAW49272,AAA59957,AAA59958,BAD92054,BAG35458,AAH00964,AAH16928,CAG33326,CAH18668,AAA59956,AAA59959,AAA36386,AAB20298,AAB20297,CAA68809,P04181,Q59HE2,Q68CS0,BAH12241,BAH14318,NP_001165285 Hs.523332 DKFZp781A11155|GACR|HOGA|OATASE|OKT gyrate atrophy|ornithine aminotransferase, mitochondrial|ornithine delta-aminotransferase|ornithine--oxo-acid aminotransferase|ornithine-delta-aminotransferase|ornithine-oxo-acid aminotransferase protein-coding 1352092 OATL2 ornithine aminotransferase-like 2 4944 1344408 OATL3 ornithine aminotransferase-like 3 (pseudogene) 8406505 4945 NG_001169,AL445237,S65768 OATL3 pseudo 733111 OAZ1 ornithine decarboxylase antizyme 1 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. The antizyme encoded by this gene inhibits ornithine decarboxylase and accelerates its degradation. [provided by RefSeq] 1580863 20029029,7813017,18029348,18089576,17900240,17761941,17630775,16713569,16373339,16061000,15670771,15476163,15355308,15057824,12477932,12426106,12359729,10781034,10473601,9426243,9132164,8954789,8185631,8001569,7811704,2724368,19635796,20185758 4946 AC004152,AY865622,CH471139,D89870,AK307221,AL542477,BC007247,BC010063,BC013037,BC042364,BC053360,BC055397,BC081537,BC093652,BC100291,NM_004152,BC112133,BI667301,CR595080,CR601402,CR604371,CR608421,CR609439,CR618921,CR621194,CR622737,CR623800,D78361,D87914,U09202 NP_004143,AAC02802,AAC02803,AAW56074,EAW69393,EAW69394,EAW69395,BAA23101,AAH93652,AAI12134,BAA11373,BAA11374,BAA13497,AAA82154,AAA82155,P54368,Q2M222 Hs.446427 AZI|MGC138338|OAZ ODC-Az|antizyme 1|ornithine decarboxylase antizyme 1 protein-coding 1344023 OAZ2 ornithine decarboxylase antizyme 2 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. The antizyme encoded by this gene inhibits ornithine decarboxylase but does not accelerate its degradation. [provided by RefSeq] 1580863 9428668,17353931,15355308,12477932,12359729,10781034,10352227,9782076,8889548,19960435 4947 AC090543,AC100830,CH471082,AF057297,AF242520,AF242521,BC035493,BC047755,BC063577,BC073877,BC092483,BC119629,BC119630,BC127630,BC127631,BC148316,BM686393,BX648172,CR590699,CR590996,CR593659,CR594645,CR596383,CR601685,CR603676,NM_002537,CR604161,CR606371,CR611250,CR612625,CR616925,CR623096,CR624771,CR626244 NP_002528,EAW77690,EAW77691,EAW77692,AAD03265,AAF99601,O95190,Q9HD73 Hs.713816,Hs.74563 AZ2 ODC-Az 2|ornithine decarboxylase antizyme 2 protein-coding 1347463 OAZ3 ornithine decarboxylase antizyme 3 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. In contrast to antizymes 1 and 2, which are widely expressed throughout the body, the expression of this gene product (antizyme 3) is restricted to testis germ cells, and thus it is a possible candidate for heritable forms of human male infertility. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10781085,16542438,15642376,15355308,14702039,12477932,10781034,11438941,17207965 51686 NM_016178,NM_001134939,AL589765,CH471121,AF175296,AK125876,AY713300,BC073949,BC128558,BC128559 NP_057262,NP_001128411,CAI17173,CAI17174,EAW53413,EAW53414,AAD51734,AAH73949,Q5SZR6,Q5SZR7,Q6GMR0,Q9UMX2,CAM24034,ADQ31982 Hs.713789 AZ3|OAZ-t|TISP15 ODC-Az 3|OTTHUMP00000015258|antizyme 3|ornithine decarboxylase antizyme 3 protein-coding 1313785 OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 737633,1580863 19119139,17903301,16189514,15489334,15164054,14702039,12477932,17207965,16385451,19648609,19854130,20421499,8125298 737633 79991 NM_024928,AL133355,CH471066,AK026212,BC017400,CR600104,CR607240,CR609551,CR617185,AK057720,CR613200 NP_079204,CAB81623,EAW49619,EAW49620,BAB15396,AAH17400,Q9H668,ADQ32696 Hs.62314 AAF-44|AAF44|FLJ22559|RP11-541N10.2|RPA-32|STN1|bA541N10.2 CST complex subunit STN1|OTTHUMP00000020418|alpha accessory factor 44|oligonucleotide/oligosaccharide-binding fold-containing protein 1|replication protein A 32 kDa subunit|suppressor of cdc thirteen homolog protein-coding 1603967 OBFC2A oligonucleotide/oligosaccharide-binding fold containing 2A Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM] 18449195,14702039,12477932,17207965,19605351,19683501 64859 CR609297,CR620561,DB477793,NR_024415,NM_001031716,AC114778,CH471058,AK023686,AK026486,AL832659,AL833684,BC017114,BC107723,CA307622,CR593303 Q96AH0,ADQ32447,NP_001026886,AAY24348,EAX10835,EAX10836,EAX10837,EAX10838,BAB15491,CAH56209,AAH17114,AAI07724 Hs.591610 DKFZp667M1322|FLJ13624|FLJ22833|MGC111163|SSB2 OTTHUMP00000205480|OTTHUMP00000206044|OTTHUMP00000206045|SOSS complex subunit B2|SOSS-B2|hSSB2|oligonucleotide/oligosaccharide-binding fold-containing protein 2A|sensor of single-strand DNA complex subunit B2|sensor of ssDNA subunit B2|single-stranded DNA-binding protein 2 protein-coding 1601970 OBFC2B oligonucleotide/oligosaccharide-binding fold containing 2B Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM] 18449195,12477932,17207965,19605351,19683501,19786574 79035 AC073896,CH471054,AI038029,AY203942,BC001079,BC006171,BG697807,CR623688,CR625869,NM_024068 EAW96912,EAW96913,EAW96914,EAW96915,AAP34465,AAH01079,AAH06171,Q9BQ15,ADQ32470,NP_076973 Hs.240170 MGC2731|SOSS-B1|SSB1|hSSB1 LP3587|OTTHUMP00000201882|OTTHUMP00000201885|OTTHUMP00000201886|SOSS complex subunit B1|oligonucleotide/oligosaccharide-binding fold-containing protein 2B|sensor of single-strand DNA complex subunit B1|sensor of ssDNA subunit B1|single-stranded DNA-binding protein 1 protein-coding 1344089 OBP2A odorant binding protein 2A This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 10607840,16546182,16461020,15489334,12477932,12379593,12044155,11058764 29991 NM_014582,AJ251029,AL161452,CH471090,AI219510,AJ251021,AJ251022,AJ251023,AJ251024,AM087898,BC069563 NP_055397,CAB71326,CAI14041,CAI14042,CAI14043,EAW88158,EAW88159,EAW88160,EAW88161,EAW88162,CAB71318,CAB71319,CAB71320,CAB71321,CAJ32623,AAH69563,Q2PAD7,Q5T8A4,Q5T8A5,Q9NY56 Hs.567489 OBP|OBP2C|OBPIIa|hOBPIIa odorant-binding protein 2a|odorant-binding protein IIa|putative odorant-binding protein 2c protein-coding 1347589 OBP2B odorant binding protein 2B 1580863 10607840,15489334,15164053,12975309,12477932,12044155,3388043 29989 NM_014581,AJ251025,AL732364,CH471090,AJ251026,AJ251027,AJ251028,AW513637,AY358981,BC096717,BC098125,BC098151,BC098340,BX101545,AL772161 NP_055396,CAB71322,CAH73779,EAW88048,EAW88049,EAW88050,EAW88051,EAW88052,CAB71323,CAB71324,CAB71325,AAQ89340,AAH96717,AAH98125,AAH98151,AAH98340,Q9NPH6 Hs.449629 MGC119022|hOBPIIb OBPIIb|odorant-binding protein 2b|odorant-binding protein IIb protein-coding 737583 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 11448995,12527750,11717165,18350308,17720975,17716621,17382936,17360660,16710414,16625316,16344560,16205939,15489334,15185077,15146197,15013951,14702039,12631729,12477932,11814696,10997877,11756498,12376548,12787561,16962094,18029348,19258391,20379614,20489725 84033 AL359510,AL670729,CH471098,AB046776,AB046859,AJ002535,AK024186,AK097489,AL832357,AL833724,AM231061,BC034746,BC043916,BC098118,BC098262,BC098292,BC099731,BC114382,BC114461,BU180714,CN302348,DB163213,DB445363,DQ400343,NM_052843,AJ314896,AJ314898,AJ314900,AJ314903,AJ314904,AJ314905,AJ314906,AJ314907,AJ314908,AL353593,NM_001098623 CAI15072,CAH71670,CAH71673,EAW69866,EAW69867,BAB13382,BAB13465,CAC44768,CAH56259,CAJ76912,AAH98118,AAH98262,AAH98292,AAH99731,AAI14383,AAI14462,ABD63255,Q24JT4,Q5VST9,Q658N7,NP_001092093,NP_443075,CAC85745,CAC85746,CAC85747,CAC85750,CAC85751,CAC85752,CAC85753,CAC85754,CAC85755,CAI19283,CAI19284,CAI19285 Hs.650039,Hs.656999 ARHGEF30|DKFZp666E245|FLJ14124|KIAA1556|KIAA1639|MGC120409|MGC120410|MGC120411|MGC120412|MGC138590|UNC89 obscurin|obscurin, myosin light chain kinase|obscurin-MLCK|obscurin-RhoGEF|obscurin-myosin light chain kinase protein-coding 1603688 OBSL1 obscurin-like 1 20562859,17289344,19481195,18477606,15489334,14702039,12477932,12168954,9734811,9110174,8619474,19877176,8681137 23363 NM_015311,AC009955,AB014557,AF035292,AK023854,AK025946,AK299261,BC007201,BC061909,CR590353,CR602668,CR607106,EF063637,EF063638,CK904385,DB475523,F30329,NG_016977,NM_001173408,NM_001173431 Q6P710,Q9H8B3,NP_056126,BAA31632,BAB14704,BAH12981,AAH07201,AAH61909,ABO42327,ABO42328,O75147,NP_001166879,NP_001166902 Hs.526594 3M2|KIAA0657|MGC71026 OTTHUMP00000065424|obscurin-like protein 1 protein-coding 1606848 OC90 otoconin 90 10329003,9860971,8382789,15188402 729330 NM_001080399,AC092817,AC100868,AK297911 NP_001073868,BAG60230,Q02509,AAI60180 Hs.653174 PLA2L otoconin-90|phospholipase A2 homolog|phospholipase A2-like protein-coding 1352949 OCA2 oculocutaneous albinism II This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. [provided by RefSeq] 1580863 7601462,8302318,8421497,19472299,19384953,19382693,19340012,19320733,19208107,19116314,19060277,18839200,18683857,18680187,18676680,18650849,18636124,18563784,18528436,16417222,15889046,15712365,15489334,15262401,12876664,12817591,12727022,12713581,12579416,12477932,12469324,12163334,12028586,11601658,11310796,11179026,10987646,10671067,10649493,10094567,9259203,8875191,7920637,7874125,7762554,1773534,1509264,1415228,20801516,18483556,18463683,18326704,18252222,18252221,18093281,17960121,17952075,17767372,17619204,17570052,17568986,17236130,16453125,19170196,19625176,19626598,19692168,19710684,19772629,19865097,20019752,20221248,20308648,20379614,20457063,19913121,20585627,20628086,20629734 4948 NG_009846,AC079090,AC090696,AC124091,AC135329,CH471151,U19152,U19153,U19154,U19155,U19156,U19157,U19158,U19159,U19160,NM_000275,U19161,U19162,U19163,U19164,U19165,U19166,U19167,U19168,U19169,U19170,U19171,U19172,U19173,U19174,U19175,U19176,BC012097,M97901,M99564 AAA36477,Q04671,NP_000266,EAW57661,EAW57662,EAW57663,AAC13784,AAC13783,AAH12097,AAA36430 Hs.654411 BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 P protein|eye color 2 (central brown)|eye color 3 (brown)|hair color 3 (brown)|melanocyte-specific transporter protein|oculocutaneous albinism II (pink-eye dilution homolog, mouse)|oculocutaneous albinism ii (pink-eye dilution homolog, mouse)|pink-eyed dilution protein homolog|total brown iris pigmentation protein-coding 1345410 OCD1 obsessive-compulsive disorder 1 4949 1603010 OCEL1 occludin/ELL domain containing 1 15489334,14702039,12477932,17207965 79629 NM_024578,AC010646,CH471106,AF109191,AK026362,BC004121,BC029361,BC038945,CR598715,CR602515 NP_078854,EAW84577,EAW84578,EAW84579,AAQ13501,BAB15460,AAH04121,AAH29361,Q5QTR7,Q6PKA4,Q9H607,ADQ32267 Hs.422676 FLJ22709|FWP009|S863-9 occludin/ELL domain-containing protein 1 protein-coding 1351024 OCIAD1 OCIA domain containing 1 18328549,16344560,16341674,14702039,12477932,11162530,20877624,17213182,20515946 54940 NM_001079841,NM_017830,NM_001079840,NM_001079842,AC079927,CH471069,AF251296,AF323665,AF324350,AK000462,NM_001079839,AK297864,AL555289,BC003409,BC088361,BM819316,CR591070,CR592468,AK123529,CR593373,CR599869,CR606711,CR612142,CR612891,CR614441,CR618578,CR621465,CR624767,CR624940,CR625789,CR626387,DA037995,DB064148,DT215975,H09533,AI038315,AL519557,AL539411,BI549536,BM999322,BQ272551,CD515566,NM_001168254 NP_001073308,NP_001073310,NP_060300,NP_001073309,NP_001073311,EAW93070,EAW93072,EAW93073,AAG44596,AAG45220,AAK12121,BAG60193,AAH03409,AAH88361,Q9NX40,BAA91181,NP_001161726 Hs.518750 ASRIJ|Asrij|FLJ20455|MGC111072|OCIA|TPA018 OCIA domain-containing protein 1|OTTHUMP00000218763|OTTHUMP00000218776|OTTHUMP00000221265|OTTHUMP00000221267|OTTHUMP00000221268|OTTHUMP00000221269|OTTHUMP00000221270|OTTHUMP00000221283|OTTHUMP00000221286|OTTHUMP00000221287|OTTHUMP00000223210|OTTHUMP00000223211|OTTHUMP00000223295|OTTHUMP00000223296|OTTHUMP00000223297|OTTHUMP00000223298|OTTHUMP00000223299|ovarian carcinoma immunoreactive antigen protein-coding 1349620 OCIAD2 OCIA domain containing 2 737633 16341674,12477932,17054434 737633 132299 NM_152398,NM_001014446,AC020593,AC105444,CH471069,AK298305,AY472117,BC032808,BM782144,CR749310,FB746707 NP_689611,NP_001014446,EAW93075,EAW93076,EAW93077,BAG60559,AAS47684,AAH32808,CAH18165,Q56VL3,CAT04674 Hs.95835 DKFZp686C03164|MGC45416 OCIA domain-containing protein 2|OTTHUMP00000218841|ovarian carcinoma immunoreactive antigen|ovarian carcinoma immunoreactive antigen-like protein protein-coding 1343681 OCIAD2P1 OCIAD2 pseudogene 1 448837,100287085 AC009812,NG_017000 pseudo 1344734 OCLM oculomedin The protein encoded by this gene is induced by cyclic mechanical stretching in trabecular cells of the eye and it is also expressed in retina. This protein may play a role in trabecular meshwork function and the development of glaucoma. [provided by RefSeq] 1580863 15489334,12868032,12655282,12477932,11129344,10362512 10896 NM_022375,AL596220,CH471067,AF142063,BC069096,BC093987,BC093989,NM_001199906 NP_071770,EAW91210,EAW91211,AAD43676,AAH69096,AAH93987,AAH93989,Q9Y5M6,NP_001186835 Hs.679230 TISR oculomedin|trabecular meshwork inducible stretch response protein|trabecular meshwork-inducible stretch response protein protein-coding 732985 OCLN occludin This gene encodes an integral membrane protein which is located at tight junctions. This protein may be involved in the formation and maintenance of the tight junction. The possibility of several alternatively spliced products has been suggested but the full nature of these products has not been described. [provided by RefSeq] 1359811,1580863 20663912,20463075,20164257,19438816,20727516,20822789,19125584,19114660,19073886,19052094,19017651,18802961,18782596,18560860,18550469,18489585,18474622,18397460,18386163,18276783,18029348,18005733,17962811,17855770,17635647,17553883,17359339,17283368,17243118,17038551,16959951,16924233,16616143,16207910,16134968,16081103,15806147,15761153,15659655,15622522,15500294,15489334,15472219,15069537,14991532,14512431,12932229,12804768,12728017,12668723,12667324,12477932,12419305,12184633,12169098,12118072,12071155,11950934,11878825,11782481,11710912,11700038,11679090,11502742,11228248,10601346,10591624,10581193,10575001,10497311,10026224,9792688,9531559,9243183,9212730,9175707,7798316,10749869,8601611,19437620,19332538,19182773,19174516,15977641,12639940,20844048,18662404,20504882,15054114,19184677,19515778,19538290,19661441,19756380,20028514,20152177 1359811 4950 AC138827,NM_002538,AC142525,AC145146,AC147575,AF400630,CH471137,AB451306,AB451437,AK290697,AK311037,AK313501,BC029886,BK001650,CR606900,U49184,U53823,GQ402517,FJ786083,FJ786084,GQ225096,GQ225097,GQ225098 NP_002529,AAL47094,EAW51275,EAW51276,BAG70120,BAG70251,BAF83386,AAH29886,DAA01837,AAC50451,AAB00195,Q16625,Q5U1V4,ABM83349,ABM86563,ACZ80515,ACT53743,ACT53744,ACT83431,ACT83432,ACT83433 Hs.592605 BLCPMG occludin|tight junction protein occludin TM4 minus protein-coding 737307 OCM oncomodulin Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq] 1580863 8354278,16344560,12853948,12477932,11181995,8611623,1559707,21084621,2306116,3179268 654231 NM_001097622,AC004983,CH471144,L20345,L20346,L20347,L20348,BC069468,BC069512,BC069550,BC113704,BC113706,BC147028,BC147029,CB045979,DB339645 NP_001091091,EAW87352,AAA02869,AAH69468,AAH69512,AAH69550,AAI13705,AAI13707,AAI47029,AAI47030,ADR83469,P0CE72 Hs.571315 MGC142264|MGC142266|MGC97453|MGC97465|MGC97477|OCM1|OM|ONCM OTTHUMP00000208113|hCG18255|oncomodulin 1|oncomodulin-1|parvalbumin beta protein-coding 1625849 OCM2 oncomodulin 2 This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. [provided by RefSeq] 17207965,15610002,15489334,12853948,12583602,12477932,11329013,9847074,9405492,8611623,8354278,8077283,4005827,3558395,3179268,2306116,1559707 4951 NM_006188,AC004967,CH236956,CH471091 ADQ32911,NP_006179,AAQ96880,EAW76722,AAI56842,P0CE71 Hs.510456 OCM OM|oncomodulin-like|parvalbumin beta|putative oncomodulin-2 protein-coding 1350275 OCP1 organ of Corti protein 1 4930 1350136 OCRL oculocerebrorenal syndrome of Lowe This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq] 1580863 9788721,9682219,9632163,9593760,9430698,9199559,9048911,9038219,8504307,1897526,20043897,20629659,1321346,7761412,1840503,19390221,19211563,19172411,18500547,18307981,18019214,17765681,17384968,16902405,16420990,15917292,15829501,15772651,15627218,12915445,12477932,12428211,10923037,10767176,10639484,9915833,9838104,19536138,19546591,19582483,19700499,19940034,20133602 4952 NM_001587,NG_008638,AL022162,AL138745,AL662877,CH471107,Z73496,AK226116,AK293107,BC018003,BC025253,BC094726,BC130612,BC144106,NM_000276,S62085,U57627 NP_000267,NP_001578,CAI95695,CAI95696,CAI42615,CAI42616,CAI41087,CAI41088,EAX11830,EAX11831,EAX11832,BAF85796,AAH18003,AAH25253,AAH94726,AAI30613,AAI44107,AAB26926,AAB03839,Q01968,Q504W7,Q6PJ10,Q8WWC2 Hs.126357 INPP5F|LOCR|NPHL2|OCRL1 Lowe oculocerebrorenal syndrome protein|inositol polyphosphate 5-phosphatase OCRL-1|phosphatidylinositol polyphosphate 5-phosphatase protein-coding 1603034 ODAM odontogenic, ameloblast asssociated 18484335,18472969,17647262,16674676,14702039,14647039,12477932,20098747,11329013,9373149,8889549,8125298 54959 NM_017855,AC105347,CH471057,AA025290,AK000520,AK098169,AK225547,BC017796,BG181363,BG194365,EF113908 NP_060325,EAX05611,EAX05612,BAA91226,AAH17796,ABL11577,A1E959 Hs.143811 APIN|FLJ20513 OTTHUMP00000219153|OTTHUMP00000219155|odontogenic ameloblast-associated protein protein-coding 731324 ODC1 ornithine decarboxylase 1 This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. [provided by RefSeq] 1300048,1580863,1578320 20600019,2317811,17353931,18029348,19225907,19047152,18548481,18413818,17957960,17719568,17569126,17378176,17088079,17047198,16520895,16469300,16459331,16219697,15734972,15534104,15489334,15015770,12810952,12477932,12359729,11945886,11830503,11461922,10754523,10623504,10588659,10064588,8519686,8185631,8168440,8043198,7821789,3755388,3595418,3308908,3036086,2693021,2587220,2440930,2318872,2227439,1598217,1423312,16548883,19789310,19960435,20199977,20456464,20798393 1578320 4953 NG_012105,AC007249,AY841870,CH471053,CQ834228,M31061,M33764,M34157,M34158,M81740,S71124,X16277,NM_002539,AK292352,AK301956,AK312766,BC014562,BC025296,CR613073,CR614398,CR615738,D28365,DQ185043,M16650,M20372,X53271,X55362 NP_002530,AAY15034,AAV88093,EAX00958,EAX00959,CAH05329,AAA60563,AAA60564,AAA59969,AAA59967,BAF85041,BAG63370,BAG35632,AAH25296,BAA05731,ABD14423,AAA59966,AAA59968,CAA37369,CAA39047,P11926,Q2F835,Q53TU3,ABM87068,ABW03841,ACE87215,ACE86536,CAA34353 Hs.467701 ODC ornithine decarboxylase protein-coding 1352488 ODCP ornithine decarboxylase pseudogene 17900240 4954,4954 AC018639,NG_027864 ODC2 pseudo 733828 ODF1 outer dense fiber of sperm tails 1 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq] 1580863 15489334,12594206,12533418,12477932,11774369,11468777,11329013,10381817,10373309,9045620,8949892,8873064,8305202,8111388,1418683,20112736,20379614 4956 NG_028006,NM_024410,AP002851,AP002852,CH471060,M93131,M93132,X74614,AK315276,BC104456,BC104457,BG214987,DB457574 NP_077721,EAW91847,EAW91848,EAW91849,CAA52685,AAI04457,AAI04458,Q14990 Hs.159274 CT133|HSPB10|MGC129928|MGC129929|ODF|ODF2|ODF27|ODFP|ODFPG|ODFPGA|ODFPGB|RT7|SODF cancer/testis antigen 133|outer dense fiber of sperm tails, 27-kD|outer dense fiber protein 1 protein-coding 731998 ODF2 outer dense fiber of sperm tails 2 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Multiple protein isoforms are encoded by transcript variants of this gene; however, not all isoforms and variants have been fully described. [provided by RefSeq] 10072582,18029348,19386263,16966375,15302935,14702039,12477932,11774369,10381817,9740324,9045620,12221128,16980960,20379614,16344560 4957 NM_002540,NM_153437,AF109138,AL359091,AL445287,CH471090,AF012549,AF053970,AK093367,AK126816,AK295662,AK299303,AK300793,AK301754,AK301842,AK301855,AK302684,AK308278,AK309917,AY319414,AY366499,BC010629,BC012785,BC091500,BI825445,BI831601,BM563800,BM928430,DQ444713,DQ444714,DB044506,DB051583,DB094573,DB511337,DC397869,DC398295,NM_153432,NM_153433,NM_153435,NM_153436,NM_153439,NM_153440,NR_036754,NR_036755,NR_036756,NR_036757 NP_002531,NP_702915,AAD22544,CAI13499,CAI13500,CAI13501,CAI13502,CAI13503,CAI13504,CAI13505,CAI13506,CAI13507,CAI13508,CAH71066,CAH71067,CAH71068,CAH71069,EAW87791,EAW87792,EAW87793,EAW87794,EAW87795,EAW87796,EAW87797,EAW87798,EAW87799,EAW87800,EAW87801,AAB66337,AAC08409,BAG52697,BAG58524,BAG61316,BAG62452,BAG63215,BAG63285,BAG63297,BAG63914,AAP83847,AAQ73195,AAH10629,AAH12785,AAH91500,ABE01856,ABE01857,Q5BJF6,Q5T4C2,Q5T4C3,Q5T4C7,Q5T4C8,Q6PJQ8,Q9UNM2,ACE87454,ACE86758,ACE86768,NP_702910,NP_702911,NP_702913,NP_702914,NP_702917,NP_702918 Hs.129055 CT134|FLJ44866|MGC111096|MGC9034|ODF2/1|ODF2/2|ODF84 OTTHUMP00000022276|cancer/testis antigen 134|cenexin 1|outer dense fiber of sperm tails protein 2|outer dense fiber of sperm tails, 84-kD|outer dense fiber protein 2|outer dense fibre of sperm tails 2|sperm outer dense fiber major protein 2|sperm tail structural protein protein-coding 1606519 ODF2L outer dense fiber of sperm tails 2-like 12477932,10574462,8889548,16169070 57489 NM_001007022,NM_020729,AC119749,AL136382,CH471097,AB033055,AK302792,AK303209,AK308351,BC009779,BC012579,BC026105,BC029420,BC047368,BC091490,BG777878,BI768058,BM971230,BQ894001,BX499763,CR591511,BM993592,CD687053,NM_001184765,NM_001184766 NP_001007023,NP_065780,CAI23513,CAI23514,EAW73188,EAW73189,EAW73190,EAW73191,EAW73192,BAA86543,BAG63995,BAG64299,AAH09779,AAH29420,AAH47368,AAH91490,Q96GC1,Q9ULJ1,NP_001171694,NP_001171695 Hs.149360 KIAA1229|MGC111060|RP5-977L11.1|dJ977L11.1 OTTHUMP00000011769|OTTHUMP00000011770|outer dense fiber protein 2-like protein-coding 1320693 ODF3 outer dense fiber of sperm tails 3 ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM] 12477932,11870087 113746 NM_053280,AC069287,CH471278,AB067774,AL133658,AY713299,BC126222,BC126248,BC144022,FJ436414 NP_444510,EAW61249,BAB70734,CAH10709,AAW83203,AAI26223,AAI26249,AAI44023,ACN56469,Q96PU9,ADR82882 Hs.350949 CT135|SHIPPO1|TISP50|hSHIPPO cancer/testis antigen 135|outer dense fiber of sperm tails protein 3|outer dense fiber protein 3|sperm tail protein SHIPPO 1|sperm tail protein SHIPPO1|transcript induced in spermiogenesis protein 50 protein-coding 1606628 ODF3B outer dense fiber of sperm tails 3B 15489334,12477932,12107413,10591208,8889548,8038210,19913121,20628086,19862010 440836 NM_001014440,AW291097,BC127934,BC127935,BG149596,BM973820,CD674272,S72487 NP_001014440,AAI27935,AAI27936,AAD14106,AAD14107,A8MYP8,Q16192,Q16193,AAI72351 Hs.531314 ODF3L3 OTTHUMP00000197079|OTTHUMP00000197080|OTTHUMP00000197081|OTTHUMP00000197083|orf2 5' to PD-ECGF/TP|outer dense fiber protein 3-like protein 3|outer dense fiber protein 3B protein-coding 1348133 ODF3L1 outer dense fiber of sperm tails 3-like 1 17207965,12477932 161753 NM_175881,AC019294,CH471136,BC039862 ADQ33013,NP_787077,EAW99238,AAH39862,Q8IXM7 Hs.144348 MGC48986 outer dense fiber protein 3-like protein 1 protein-coding 1321058 ODF3L2 outer dense fiber of sperm tails 3-like 2 15489334,14702039,12477932,21182207 284451 NM_182577,AC005775,AC006124,CH471242,AA935122,AK097378,AW082140,BC104468,BC104469 NP_872383,EAW61196,BAC05028,AAI04469,AAI04470,Q3SX64 Hs.104777 C19orf19|FLJ40059|MGC129962|MGC129963 outer dense fiber protein 3-like protein 2 protein-coding 1346133 ODF4 outer dense fiber of sperm tails 4 This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. [provided by RefSeq] 15270212,12728016,12477932 146852 NM_153007,AC135178,CH471108,AB081120,AY237799,BC112010,BC112014,FJ235526 NP_694552,EAW90059,BAC15594,AAO89569,AAI12011,AAI12015,ACI28935,Q2M2E3 Hs.186045 CT134|CT136|MGC138215|MGC138219|OPPO1 cancer/testis antigen 134|cancer/testis antigen 136|hOPPO1|outer dense fiber 4|outer dense fiber of sperm tails protein 4|outer dense fiber protein 4|testis-specific protein oppo 1 protein-coding 1350577 ODT1 oligodontia 1 4960 1350445 ODZ1 odz, odd Oz/ten-m homolog 1(Drosophila) 1580863 10341219,10556288,16344560,15777793,15772651,15146197,14702039,12915301,12477932,12000766,10737800,10331952,9771704 10178 NG_013249,Z97629,NM_014253,NM_001163278,NM_001163279,AL022718,AL023774,AL023878,AL031075,CH471107,Z81008,Z83823,Z85995,AF100772,AI498402,AK055765,BC030766,BC140783,BC144542,BC144543,BE700315,BX457474,BX478232,BX506934,CN305715,DA217223,CF454574 NP_055068,NP_001156750,NP_001156751,CAI42154,CAI42975,CAI43065,EAX11846,CAI42710,CAI42742,CAI42721,AAF04723,AAI40784,AAI44544,Q9UKZ4 Hs.23796,Hs.727607 ODZ3|TEN-M1|TNM|TNM1 odz (odd Oz/ten-m, Drosophila) homolog 3|protein Odd Oz/ten-m homolog 1|ten-1|tenascin M1|tenascin-M1|teneurin 1|teneurin-1 protein-coding 732274 ODZ2 odz, odd Oz/ten-m homolog 2 (Drosophila) 18927281,17081983,15372022,14702039,12783990,10737800,10625539,10574461,10225957,20379614 57451 AC008601,AC008637,AC008634,AC008642,AC008705,AC008708,AC011369,AC011384,AC026689,AC091820,AC093304,AC113372,AB032953,AK293262,AK302302,AL137500,BF950845,BQ774782,BX648178,CR936703,AC008464,AK056053,NM_001122679 BAA86441,BAG56794,BAG63642,CAB70774,Q9NT68,AAI72353,NP_001116151 Hs.631957 DKFZp686A1568|TEN-M2|TNM2 neurestin alpha|odd Oz/ten-m homolog 2|odd oz/ten-m homolog 2 (drosophila)|protein Odd Oz/ten-m homolog 2|ten-2|tenascin-M2|teneurin 2|teneurin-2 protein-coding 1315371 ODZ3 odz, odd Oz/ten-m homolog 3 (Drosophila) 15815621,14702039,14671302,11932239,10819331,10625539,10331952,15231748,20379614 55714 NM_001080477,AC079226,AC093601,AC105288,AC109353,AC131943,AF484565,AY405420,AY736855,CH471056,AB040888,AF195420,AK001336,AK001748,AK027473,AK125869,AK308489,AY726602 NP_001073946,AAU84915,EAX04702,BAA95979,AAF28318,BAA91633,BAA91879,BAB55138,Q9P273 Hs.130438 FLJ10474|FLJ10886|KIAA1455|TNM3|Ten-m3 ODZ3-like protein|OTTHUMP00000218729|odd Oz/Ten-m homolog 3|protein Odd Oz/ten-m homolog 3|ten-3|tenascin-M3|teneurin-3 protein-coding 1312224 ODZ4 odz, odd Oz/ten-m homolog 4 (Drosophila) 16554811,14702039,12168954,12000766,10718198,10625539,17903297,18711365,20379614,20602751 26011 AP000610,AP001547,AP001838,AP002515,AP002768,AP002957,AP002958,AB037723,AK023935,AK056531,AK127101,AK127705,AK309124,AL080120,BX537983,BX640737,NM_001098816,DR000247,EG328205 NP_001092286,BAA92540,BAB71206,CAB45719,CAD97943,CAE45850,Q6N022,AAI72403 Hs.213087 Doc4|FLJ99165|TNM4|Ten-M4 odd Oz/ten-m homolog 4|protein Odd Oz/ten-m homolog 4|ten-4|tenascin-M4|teneurin-4 protein-coding 1352802 OED Oregon eye disease 2667510 4961 1344475 OFC1 orofacial cleft 1 4963 1347803 OFC2 orofacial cleft 2 9676424 4964 1350180 OFC3 orofacial cleft 3 7668251 4965 1352821 OFCC1 orofacial cleft 1 candidate 1 15218257,17903295,19367581,12477932,20585627 266553 AF548114,AF548115,AF548116,AF548117,AF548118,AF548121,AF548122,AF548123,AY309094,BC113541,BC113543,BC143837,AL031906,AL159986,AL359316,XM_003118558,XM_003119969,XM_003120493,AL031122,AL139332,CH471087,AF520800,AF520801,AF520802,AF520803,AF520804,AF520805,AF520806,AF520807,AF520808,AF548113,AL021332 AAP74970,AAI13542,AAI13544,AAI43838,Q8IZS0,Q8IZS2,Q8IZS4,Q8IZS5,AAN59915,XP_003118606,XP_003120017,XP_003120541,EAW55244,EAW55245,EAW55246,AAN06675,AAN06676,AAN06677,AAN06678,AAN06679,AAN06680,AAN06681,AAN06682,AAN06683 Hs.544715,Hs.532138 MGC142101|MGC142103|MRDS1 OTTHUMP00000214079|orofacial cleft 1 candidate gene 1 protein|orofacial clefting chromosomal breakpoint region 1|orofacial clefting chromosomal breakpoint region candidate 1 protein protein-coding 1348587 OFD1 oral-facial-digital syndrome 1 This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq] 1580863 16712791,19023858,18177199,17761535,16783569,16397067,15489334,15466260,14654843,12782125,12595504,12477932,11950863,11734546,11179005,10441586,9722947,9373149,9215688,8125298,7759104,16169070,20818665,19913121,20628086,20736409,18029348,11076968,12221128,12852856,16462731,19783798,19800048,20230748,7790358 8481 NM_003611,NG_008872,AC003037,CH471074,AK225847,AK289677,AK290354,AK297104,AK311067,BC012324,BC030787,BC042830,BC052809,BC062432,BC092448,BC096344,BC096345,BC099658,BC099659,CB134304,Y15164,Y16355,GU727634 NP_003602,EAW98835,EAW98836,EAW98837,EAW98838,EAW98839,EAW98840,EAW98841,BAF82366,BAF83043,BAG59615,AAH42830,AAH52809,AAH62432,AAH96344,AAH96345,CAA75436,CAA76185,O75665,Q4G0Q0,Q4VAK3,Q6P668,Q7Z7F6,ADU87636 Hs.6483 71-7A|CXorf5|JBTS10|MGC117039|MGC117040|SGBS2 OTTHUMP00000022941|oral-facial-digital syndrome 1 protein|protein 71-7A protein-coding 1349979 OFD1P1 OFD1 pseudogene 1 9722947 23738 AC025449,NG_003023 71-7A3|71-7A5|C5orf1|OFD1P1 pseudo 4110018 OFD1P19Y OFD1 pseudogene 19, Y-linked 9847074 100499439 AC068719,NG_023466 OFD1P19|OFD1PY19 pseudo 1604159 OFDYP1 OFD1 pseudogene Y-linked 1 12815422 378009 NG_004636,AC007742,AC095381 OFD1P1|OFD1PY1|OFDYP1 pseudo 1605510 OFDYP10 OFD1 pseudogene Y-linked 10 12815422 386694 NG_004755,AC009947,AC016707,AC016752 OFD1P10|OFD1PY10|OFDYP10 pseudo 1605509 OFDYP11 OFD1 pseudogene Y-linked 11 12815422 386695 NG_004755,AC025246 OFD1P11|OFD1PY11|OFDYP11 pseudo 1605508 OFDYP12 OFD1 pseudogene Y-linked 12 12815422 386696 NG_004755,AC068601,AC073893 OFD1P12|OFD1PY12|OFDYP12 pseudo 1605507 OFDYP13 OFD1 pseudogene Y-linked 13 12815422 386697 NG_004755,AC010682 OFD1P13|OFD1PY13|OFDYP13 pseudo 1605506 OFDYP14 OFD1 pseudogene Y-linked 14 12815422 386698 NG_004755,AC007965,AC017005 OFD1P14|OFD1PY14|OFDYP14 pseudo 1605505 OFDYP15 OFD1 pseudogene Y-linked 15 12815422 386699 NG_004755,AC006991 OFD1P15|OFD1PY15|OFDYP15 pseudo 1349962 OFDYP16 OFD1 pseudogene Y-linked 16 12815422 442485 NG_004755,AC078938 OFD1P16|OFD1PY16|OFDYP16 pseudo 1604158 OFDYP2 OFD1 pseudogene Y-linked 2 12815422 378010 NG_004636,AC024183 OFD1P2|OFD1PY2|OFDYP2 pseudo 1351259 OFDYP3 OFD1 pseudogene Y-linked 3 12815422,9847074 386687 NG_003116,AC068719 OFD1P19|OFD1P19Y|OFD1P3|OFD1PY19|OFD1PY3|OFDYP3 pseudo 1605516 OFDYP4 OFD1 pseudogene Y-linked 4 12815422,9847074 386688 NG_004636,AC069130,AC073962 OFD1P4|OFD1PY4|OFDYP4 pseudo 1605515 OFDYP5 OFD1 pseudogene Y-linked 5 12815422 386689 NG_004636,AC022486 OFD1P5|OFD1PY5|OFDYP5 pseudo 1605514 OFDYP6 OFD1 pseudogene Y-linked 6 12815422 386690 NG_004636,AC007379 OFD1P2|OFD1P6|OFD1PY6|OFDYP6 pseudo 1605513 OFDYP7 OFD1 pseudogene Y-linked 7 12815422 386691 NG_004636,AC009235 OFD1P7|OFD1PY7|OFDYP7 pseudo 1605512 OFDYP8 OFD1 pseudogene Y-linked 8 12815422 386692 NG_004755,AC007322 OFD1P8|OFD1PY8|OFDYP8 pseudo 1605511 OFDYP9 OFD1 pseudogene Y-linked 9 12815422 386693 NG_004755,AC008175 OFD1P9|OFD1PY9|OFDYP9 pseudo 1353072 OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitocondrial matrix and uses thiamine pyrophosphate as a cofactor. A congential deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. [provided by RefSeq] 1580863,2306878,2306877 20877624,2188967,17343268,16344560,16189514,15649899,15466852,12477932,9847074,9727038,8020988,7622061,1542694,18029348,19615732,8889548 2306878,2306877 4967 NM_002541,NM_001003941,AC004859,AC011894,CH236960,CH471128,D32064,AI244565,AK293871,AK294951,AK296400,AK302805,AK304439,AK304690,AK314179,AU140451,BC004964,BC009580,BC014617,BC128549,BC128550,BM998792,CR598912,CR610956,CR613315,CR617563,CR617767,D10523,NG_023260,BU682361,DC401267,NM_001165036 NP_002532,NP_001003941,AAQ96884,AAQ96885,EAW61086,EAW61087,EAW61088,EAW61089,BAA06836,BAG57261,BAG58026,BAG59067,BAG64007,BAG65261,BAG65461,AAH04964,AAH09580,AAH14617,AAI28550,AAI28551,BAA01393,Q02218,Q96DD3,ABM82806,ABW03449,NP_001158508 Hs.488181 AKGDH|E1k|OGDC 2-oxoglutarate dehydrogenase complex component E1|2-oxoglutarate dehydrogenase, mitochondrial|OGDC-E1|OTTHUMP00000207704|OTTHUMP00000207705|OTTHUMP00000207707|alpha-ketoglutarate dehydrogenase|oxoglutarate decarboxylase|oxoglutarate dehydrogenase (lipoamide)|oxoglutarate dehydrogenase (succinyl-transferring) protein-coding 1322096 OGDHL oxoglutarate dehydrogenase-like 737633,1580863 18004749,16344560,15342556,14702039,12477932,10574462,9373149,8125298,16385451,19724895,19851296,20198315,20877624 737633 55753 NM_018245,AC069546,CH471187,AB033116,AK001713,AK055817,AK225558,AK290226,AK296551,AK303729,AK307759,BC026320,BM504223,BP209348,BQ549806,CR603720,DA238469,DA411851,DA416844,HH961822,NM_001143996,NM_001143997 NP_060715,EAW93080,EAW93081,EAW93082,BAA86604,BAA91855,BAF82915,BAG59174,BAG64705,AAH26320,Q9ULD0,CBX51384,NP_001137468,NP_001137469 Hs.17860 2-oxoglutarate dehydrogenase complex component E1-like|2-oxoglutarate dehydrogenase-like, mitochondrial|OGDC-E1-like|alpha-ketoglutarate dehydrogenase-like protein-coding 1605373 OGFOD1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 18029348,14702039,12477932,10997877,20154146,20579638 55239 AC092140,CH471092,AB046832,AK001688,AK022130,AK022752,AK024314,AK304584,AL711389,BC032919,CR615197,NM_018233 NP_060703,EAW82861,EAW82862,BAB13438,BAA91838,BAB13967,BAB14226,BAB14880,BAG65372,AAH32919,Q8N543 Hs.231883 FLJ10826|KIAA1612|TPA1 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1|TPA1, termination and polyadenylation 1, homolog|termination and polyadenylation 1 homolog protein-coding 4889285 OGFOD1P1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 pseudogene 1 387924 AL137000,NG_011397 KIAA0970 pseudo 1606222 OGFOD2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 16169070,14702039,12477932 79676 NM_024623,AC026362,CH471054,AK023553,AK094820,AK095481,AK303095,BC009181,BC015605,BC033857,BC047676,BC071172,BC098119,BC098293,BC101940,BC105637,BX640675,BX640734,CR457316,CR610399,CR622109 NP_078899,EAW98364,EAW98365,EAW98366,EAW98367,EAW98368,EAW98369,EAW98370,EAW98371,EAW98372,BAB14610,BAG52936,BAG53066,BAG64205,AAH98119,AAH98293,AAI01941,AAI05638,CAE45807,CAE45849,CAG33597,Q6N063 Hs.524817 DKFZp686H15154|FLJ13491|FLJ37501|MGC120434|MGC120436 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 protein-coding 737296 OGFR opioid growth factor receptor The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq] 1580863 10677613,19297547,19244545,18923142,18636152,17273790,17081983,16820893,16685459,15489334,14702039,12650964,12477932,11890982,11780052,11214971,10974024,19675283,19835629,19923357 11054 NM_007346,AF112980,AL035669,CH471077,AF109134,AF172449,AF172450,AF172451,AF172452,AF172453,AK022234,AK024485,AK314696,BC008768,BC014137,BC032666,BM551600 NP_031372,AAD03745,CAC28882,CAI95763,CAI95764,CAI95765,EAW75335,EAW75336,EAW75337,EAW75338,EAW75339,EAW75340,EAW75341,AAD03737,AAF64402,AAF64403,AAF64404,AAF64405,AAF64406,BAG51068,BAB15775,AAH08768,AAH14137,AAH32666,Q05BV5,Q4VXW3,Q4VXW4,Q6PK21,Q9NZT2,ABM83869,ABW03524 Hs.67896 7-60 protein|OTTHUMP00000031504|opioid growth factor receptor|protein 7-60|zeta-type opioid receptor protein-coding 1318300 OGFRL1 opioid growth factor receptor-like 1 12477932,14702039 79627 NM_024576,AL136164,CH471051,AK024732,BC018688,BC110999,BX420584,CR600219,CR603879,CR625019,AK124833,AL137346 NP_078852,CAI20223,EAW48802,EAW48803,BAB14980,AAH18688,AAI11000,Q5TC84 Hs.656091,Hs.648434 FLJ21079|MGC102783|dJ331H24.1 opioid growth factor receptor-like protein 1 protein-coding 1353911 OGG1 8-oxoguanine DNA glycosylase This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq] 1600295,1578408,1580863,2317134,2317128,2317132,2317140,2317133,2317130,2317136,2317139,2317137,2317150 20577654,8621488,18029348,20731661,20819778,20845517,20850372,20877624,20884250,20981350,21036733,21036742,21037106,18406515,18393249,18384956,18366059,18349297,18312439,18272472,18270339,18246124,18222119,18204928,18155253,18154319,18091433,18086781,18059482,18006925,17991492,17989114,17984110,17971348,17951408,17932460,17922186,17827862,17651912,17536801,17531525,17531381,17457458,17426120,17417784,17417778,17399686,17389610,17374727,17353931,17313735,17252231,17240059,17230526,17220334,17214369,17209434,17207658,17207022,17203305,17177211,17149600,17148573,17127715,17126083,9223305,10583946,9190902,15518571,19428376,19423521,19414392,19393248,19391486,19350226,19339270,19266243,19265534,19237606,19223501,19176223,19161591,19147860,19147782,19116388,19064361,19029194,19012493,18992148,18990748,18977234,18936436,18848840,18825991,18823566,18776649,18713157,18676680,18672903,18672023,18641418,18641208,18628426,18585103,18569589,18559563,18544627,18515411,18505345,18478337,18477212,20846459,19408654,20723587,20564624,17114185,17090545,17085873,17057786,17040931,17028303,17018150,17015827,17015267,16997330,16982113,16949154,16923968,16872898,16843501,16800823,16615267,16614128,16609022,16600130,16597659,16585517,16569655,16567524,16564556,16549874,16543247,16538639,16492928,16478987,16381036,16366378,16341674,16333523,16293709,16221808,16211227,16195237,16111924,16052235,16024742,15990162,15990020,15979229,15971256,15946795,15942030,15931596,15929986,15896461,15887293,15870915,15856018,15841414,15834708,15811855,15800616,15800211,15781210,15760895,15737490,15667866,15661661,15654505,15610848,15596047,15587988,15494448,15491645,15449173,15350146,15284179,15231648,15184269,15077011,14752045,14716324,14688259,14663360,14634838,14634453,14578150,12933815,12899941,12883749,12841596,12807753,12779082,12754413,12718576,12717837,12644468,12612057,12592398,12582029,12578369,12509224,12477932,12244119,12189194,12164330,12164325,12163326,9223306,9207108,9197244,9187114,16169070,12117782,12034821,11992556,11977425,11956079,12151358,12119232,11927502,11902834,11837743,11827746,11719088,11675410,11448535,11307145,11110971,10987279,10908322,10775435,10717238,10706276,10497264,10449904,10233168,9765618,9681819,9662341,9348312,9321410,19913121,20192583,20559012,20562008,20571908,20574454,20593951,20602259,20606456,20628086,20634891,20644561,20649433,20667409,20817763,20843780,18279607,18992806,19170196,19351836,19486888,19493423,19506022,19514640,19524665,19536092,19561388,19563869,19615952,19625176,19630534,19643912,19671832,19692168,19789190,19815090,19826048,19857538,19881468,19885394,19902366,19914098,19914697,19936841,19959686,19962393,19963114,19966524,20023702,20054639,20056743,20058067,20069464,20140625,20150366,20183911,20193742,20209647,20226869,20231640,20304505,20306073,20364408,20368715,20378691,20391347,20453000,20459474,20496165,20512606,20522537,20530453,20534734,20547950 1600295,1578408,2317134,2317128,2317132,2317140,2317133,2317130,2317136,2317139,2317137,2317150 4968 NM_016819,NM_016820,NM_002542,NM_016828,NM_016829,NM_016826,NM_016827,NM_016821,NG_012106,AC022382,AF088282,AF521807,AJ131341,CH471055,AB000410,AB019528,AB019529,AB019530,AB019531,AB019532,AB037878,AB037879,AB037881,AB037882,AF003595,AF026691,AK289858,AW614399,BC000657,BM847736,CR591637,CR597017,CR603924,CR610319,CR611650,CR616161,CR618090,U88527,U88620,U96710,Y11731,Y11838,Y13277,HQ205514,HQ205515,HQ205516,HQ205517,HQ205518,HQ205519,HQ205520,HQ205521,HQ205522,HQ205523,HQ205524,HQ205525,HQ205526,HQ205527,HQ205528,HQ205529,HQ205530,HQ205531,HQ205532,HQ205533,HQ205534,HQ205535,HQ205536,HQ205537,HQ205538,HQ205539,HQ205540,HQ205541,HQ205542,HQ205543,HQ205544,HQ205545,HQ205506,HQ205507,HQ205508,HQ205509,HQ205510,HQ205511,HQ205512,HQ205513 NP_058212,NP_058213,NP_002533,NP_058437,NP_058438,NP_058434,NP_058436,NP_058214,AAD41680,AAD41681,AAD41682,AAM74236,CAA10351,EAW63978,EAW63979,EAW63980,EAW63981,EAW63982,EAW63983,EAW63984,EAW63985,EAW63986,EAW63987,EAW63988,BAA19103,BAA76635,BAA76636,BAA76637,BAA76638,BAA76639,BAB13293,BAB13294,BAB13296,BAB13297,AAB61340,AAB84013,BAF82547,AAH00657,AAB68614,AAB68615,AAB81132,CAA72414,CAA72536,CAA73726,O15527,Q9GZT7,Q9HCR6,Q9HCR8,ABM87106,ABW03843,ADQ20173,ADQ20174,ADQ20175,ADQ20176,ADQ20177,ADQ20178,ADQ20179,ADQ20180,ADQ20181,ADQ20182,ADQ20183,ADQ20184,ADQ20185,ADQ20186,ADQ20187,ADQ20188,ADQ20189,ADQ20190,ADQ20191,ADQ20192,ADQ20193,ADQ20194,ADQ20195,ADQ20196,ADQ20197,ADQ20198,ADQ20199,ADQ20200,ADQ20201,ADQ20202,ADQ20203,ADQ20204,ADQ20205,ADQ20206,ADQ20207,ADQ20208,ADQ20209,ADQ20210,ADQ20211,ADQ20212,ADQ20215,ADQ20216,ADQ20217,ADQ20218,ADQ20219,ADQ20220,ADQ20221,ADQ20222,ADQ20223,ADQ20224,ADQ20225,ADQ20226,ADQ20227,ADQ20228,ADQ20229,ADQ20230,ADQ20231,ADQ20232,ADQ20233,ADQ20234,ADQ20235,ADQ20236,ADQ20237,ADQ20238,ADQ20239,ADQ20240,ADQ20241,ADQ20242,ADQ20243,ADQ20244,ADQ20245,ADQ20246,ADQ20247,ADQ20250,ADQ20251,ADQ20252,ADQ20253,ADQ20254,ADQ20257,ADQ20258,ADQ20259,ADQ20260,ADQ20261,ADQ20262,ADQ20263,ADQ20264,ADQ20265,ADQ20266,ADQ20267,ADQ20268,ADQ20269,ADQ20270,ADQ20271,ADQ20272,ADQ20273,ADQ20274,ADQ20275,ADQ20276,ADQ20277,ADQ20278,ADQ20279,ADQ20280,ADQ20281,ADQ20282,ADQ20283,ADQ20284,ADQ20285,ADQ20286,ADQ20287,ADQ20288,ADQ20289,ADQ20290,ADQ20291,ADQ20292,ADQ20293,ADQ20294,ADQ20295,ADQ20296,ADQ20297,ADQ20298,ADQ20299,ADQ20300,ADQ20301,ADQ20302,ADQ20303,ADQ20304,ADQ20305,ADQ20306,ADQ20307,ADQ20308,ADQ20309,ADQ20310,ADQ20311,ADQ20312,ADQ20313,ADQ20314,ADQ20315,ADQ20316,ADQ20317,ADQ20318,ADQ20319,ADQ20320,ADQ20321,ADQ20322,ADQ20323,ADQ20324,ADQ20325,ADQ20326,ADQ20327,ADQ20328,ADQ20329,ADQ20330,ADQ20331,ADQ20332,ADQ20333,ADQ20334,ADQ20335,ADQ20336,ADQ20337,ADQ20338,ADQ20339,ADQ20340,ADQ20341,ADQ20342,ADQ20343,ADQ20344,ADQ20345,ADQ20346,ADQ20347,ADQ20348,ADQ20349,ADQ20350,ADQ20351,ADQ20352,ADQ20353,ADQ20354,ADQ20355,ADQ20356,ADQ20357,ADQ20358,ADQ20359,ADQ20360,ADQ20361,ADQ20362,ADQ20363,ADQ20364,ADQ20365,ADQ20366,ADQ20367,ADQ20368,ADQ20369,ADQ20370,ADQ20371,ADQ20372,ADQ20373,ADQ20374,ADQ20375,ADQ20376,ADQ20377,ADQ20378,ADQ20379,ADQ20380,ADQ20381,ADQ20382,ADQ20383,ADQ20384,ADQ20385,ADQ20386,ADQ20387,ADQ20388,ADQ20389,ADQ20390,ADQ20391,ADQ20392,ADQ20393,ADQ20394,ADQ20395,ADQ20396,ADQ20117,ADQ20118,ADQ20119,ADQ20120,ADQ20121,ADQ20122,ADQ20123,ADQ20124,ADQ20125,ADQ20126,ADQ20127,ADQ20128,ADQ20129,ADQ20130,ADQ20131,ADQ20132,ADQ20133,ADQ20134,ADQ20135,ADQ20136,ADQ20137,ADQ20138,ADQ20139,ADQ20140,ADQ20141,ADQ20142,ADQ20143,ADQ20144,ADQ20145,ADQ20146,ADQ20147,ADQ20148,ADQ20149,ADQ20150,ADQ20151,ADQ20152,ADQ20153,ADQ20154,ADQ20155,ADQ20156,ADQ20157,ADQ20158,ADQ20159,ADQ20160,ADQ20161,ADQ20162,ADQ20163,ADQ20166,ADQ20167,ADQ20168,ADQ20169,ADQ20170,ADQ20171,ADQ20172 Hs.380271 HMMH|HOGG1|MUTM|OGH1 8-hydroxyguanine DNA glycosylase|AP lyase|DNA-apurinic or apyrimidinic site lyase|N-glycosylase/DNA lyase|OTTHUMP00000122621|OTTHUMP00000207399|OTTHUMP00000207403|OTTHUMP00000207404 protein-coding 1317793 OGN osteoglycin This gene encodes a protein which induces ectopic bone formation in conjunction with transforming growth factor beta. This protein is a small proteoglycan which contains tandem leucine-rich repeats (LRR). Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq] 10373482,11256614,18243607,17895523,16381901,16303743,16189248,15489336,15489334,15340161,15164053,13679028,12533723,12477932,11230166,11076863,10931946,10828622,10802664,10656267,2372374,2326263,17474147,19453261,20360993,20379614,19913121,20628086 4969 NM_033014,NM_014057,AF112465,AF192478,AF192483,AL137848,CH471089,AF086912,AF088023,AF100758,AF173383,AF202167,AI424992,AK075521,AK129845,AK289628,AL110267,AL133114,BC037273,BC095443,BG772245,BX646984,CR533516,CR614070,CR626599,AK295433 NP_148935,NP_054776,AAD40453,AAF19364,CAI16694,CAI16695,EAW62818,EAW62819,EAW62820,AAP97142,AAD43022,AAQ13624,AAF69109,BAG52162,BAF82317,CAB53706,CAB61417,AAH37273,AAH95443,CAG38547,P20774,Q7Z4E0,Q7Z532,CAL37691,CAL37820,ABM82153,ABM85338,BAG58375 Hs.109439 DKFZp586P2421|OG|OIF|SLRR3A corneal keratan sulfate proteoglycan|mimecan|mimecan proteoglycan|osteoglycin (osteoinductive factor, mimecan)|osteoinductive factor protein-coding 736466 OGT O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains nine tetratricopeptide repeats and a putative bipartite nuclear localization signal. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 2311625,1625539,1580863 20876116,12136128,17353931,19377461,12670868,9083067,9083068,19073609,18653473,18536723,18174169,16966374,16189514,16105839,15896326,15795231,15561949,15489334,15336570,14601650,12911634,12724313,12538765,12504895,12477932,12435728,12373287,12150998,11846551,11773972,10801981,10753899,10580430,10386995,9499386,9343410,9110174,8910513,8702840,8639509,8619474,8344946,8076819,8063760,7642555,1730617,1533623,1512232,20628624,20805223,20845477,16344560,19615732,20068230,20190804,20200153,20206135 2311625,1625539 8473 NM_181672,NM_181673,AJ315767,AL590763,CH471132,AF070560,AF147394,AF223393,AK300267,AK313530,AL049950,AL050366,AL833085,BC014434,BC015144,BC038180,BX537844,U77413,CB857907,DA460761,NG_015875 NP_858058,NP_858059,CAC86127,CAC86128,CAC86129,EAX05285,EAX05286,EAX05287,AAF31458,BAG62028,CAB62528,CAD89970,AAH14434,AAH38180,CAD97853,AAB63466,O15294,Q548W1,Q9H5T3,ABM84549,ABM87847 Hs.405410 FLJ23071|HRNT1|MGC22921|O-GLCNAC O-GlcNAc transferase p110 subunit|O-GlcNAc transferase subunit p110|O-linked N-acetylglucosamine transferase 110 kDa subunit|UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit|o linked n-acetylglucosamine transferase|uridinediphospho-N-acetylglucosamine:polypeptide beta-N-acetylglucosaminyl transferase protein-coding 1345771 OIP5 Opa interacting protein 5 1580863 9466265,17284516,17199038,15489334,12620389,12477932,20510019 11339 NM_007280,AC012652,AC087721,CH471125,AF025441,BC015050,CR603974 NP_009211,EAW92480,EAW92481,AAC39561,AAH15050,O43482 Hs.661645 5730547N13Rik|CT86|LINT-25|MIS18beta|hMIS18beta LAP2alpha interactor-25|OIP-5|cancer/testis antigen 86|opa-interacting protein 5|protein Mis18-beta protein-coding 1345970 OIT3 oncoprotein induced transcript 3 1302862,1580863 15589826,14702039,12975309,12939600,12477932,18830570 1302862 170392 NM_152635,AC069548,CH471083,CS300502,AF075085,AK096435,AY013707,AY358339,BC126440 NP_689848,EAW54463,CAK32166,BAC04788,AAG40096,AAQ88705,AAI26441,Q8WWZ8 Hs.8366 FLJ39116|LZP liver-specific ZP domain-containing protein|liver-specific zona pellucida domain-containing protein|oncoprotein-induced transcript 3 protein protein-coding 1604016 OLA1 Obg-like ATPase 1 17430889,17353931,11256614,16169070,15635413,15489334,14702039,12477932,11230166,9373149,8125298,18536999,19706404,19882753,20053727,20379614 29789 NM_013341,AC013467,AC016737,CH471058,CQ782638,AF078859,AF078868,AF134478,AK027523,AK074710,AK225112,AK225138,AK296339,AL136546,AL833441,NM_001011708,BC012842,BC013925,BC029376,BC068447,BC091522,CR591506,CR594307,CR596070,CR603515,CR604617,CR604894,CR606753,CR606953,CR607181,CR607795,CR607845,CR608088,CR608516,CR613657,CR618778,CR618959,CR621118,DQ250006 NP_001011708,NP_037473,AAY14779,AAY14876,EAX11149,EAX11150,EAX11151,CAF85894,AAD44491,AAD44500,AAP97255,BAB55174,BAC11153,BAG59026,CAB66481,AAH12842,AAH13925,AAH29376,AAH91522,Q53SQ6,Q53SW9,Q9NTK5,ABB72766 Hs.157351 DKFZp313H1942|DOC45|GBP45|GTPBP9|PTD004 DNA damage-regulated overexpressed in cancer 45 protein|GTP-binding protein 9 (putative)|GTP-binding protein PTD004|OTTHUMP00000205067|homologous yeast-44.2 protein|obg-like ATPase 1 protein-coding 1352519 OLAH oleoyl-ACP hydrolase 1580863 17082220,15489334,14702039,12477932,17207965,16385451 55301 CH471072,AK001844,AK001968,BC050372,BR000403,NM_001039702,NM_018324,AL590365,BG281536,BG722790,BI830605 CAH73961,CAH73962,EAW86244,EAW86245,BAA91937,BAA92007,AAH50372,FAA00320,Q5VUB8,Q5VUB9,Q5VUC1,Q9NV23,ADQ33115,NP_001034791,NP_060794,CAH73957,CAH73958,CAH73959,CAH73960 Hs.24309 AURA1|FLJ11106|MGC51852|SAST|THEDC1 OTTHUMP00000019194|OTTHUMP00000019195|S-acyl fatty acid synthase thioesterase, medium chain|augmented in rheumatoid arthritis 1|thioesterase II|thioesterase domain containing 1|thioesterase domain-containing protein 1 protein-coding 733478 OLFM1 olfactomedin 1 This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20029029,17043677,9039501,16344560,16335952,15489334,14702039,12477932,9110174,8619474,20379614 10439 NM_006334,AL159992,BK001427,CH471090,AF035301,AI656802,AK096304,AK289719,AK289921,AK290478,BC000189,BC008763,BC011741,BC015437,NM_014279,BT007146,BU078731,BX419781,BX461034,CR611553,CR621361,CR621412,D82343,DA483071,DA795630,DB069120,DN993130,U79299,AK090818,AL390778 NP_055094,NP_006325,CAH70816,CAH70817,CAH70818,CAH70819,DAA01545,DAA01546,DAA01547,DAA01548,DAA01549,EAW88142,EAW88143,EAW88144,EAW88145,AAB88184,BAC04756,BAF82408,BAF82610,BAF83167,AAH00189,AAH08763,AAH11741,AAH15437,AAP35810,BAA11554,AAB50225,Q6IMJ5,Q6IMJ6,Q6IMJ7,Q6IMJ8,Q8N8R0,Q96BL8,Q99784,Q9BWJ9,BAG52234 Hs.522484 AMY|NOE1|NOELIN1|OlfA neuroblastoma protein|neuronal olfactomedin-related ER localized protein|noelin|olfactomedin related ER localized protein|olfactomedin related er localized protein|olfactomedin-1|pancortin 1 protein-coding 1320243 OLFM2 olfactomedin 2 1580863 17122126,15489334,15123989,12766061,12477932,9110174,8619474,16169070,15057824,21102462 93145 NM_058164,AC008742,AC008752,BK001428,CH471106,AF131839,BC011361,CR592038,CR592581,CR594920,CR597123,CR598222,CR604836,CR606369,CR612883 NP_477512,DAA01550,EAW84060,AAD20056,AAH11361,O95897,ABM82009,ABM85191 Hs.169743 NOE2|NOELIN2|NOELIN2_V1|OlfC neuronal olfactomedin related ER localized protein 2|noelin 2|noelin-2|olfactomedin-2 protein-coding 735294 OLFM3 olfactomedin 3 18519826,16344560,16115881,15489334,14702039,12975309,12477932,12019210,20379614 118427 NM_058170,AL356280,AL359760,BK001429,CH471097,AF397392,AF397393,AF397394,AF397395,AF397396,AF397397,AK095551,AK095724,AK300870,AY358722,BC022531,CR604928,DA406512 NP_477518,CAI16873,CAI15681,CAI15682,DAA01551,DAA01552,DAA01553,DAA01554,DAA01555,DAA01556,EAW72921,EAW72922,EAW72923,AAK97473,AAK97474,AAK97475,AAK97476,AAK97477,AAK97478,BAG53081,BAG53115,BAH13362,AAQ89084,AAH22531,Q5T3V6,Q6IMJ0,Q96PB7,ABW03310 Hs.484475 NOE3|NOELIN3|NOELIN3_V1|NOELIN3_V2|NOELIN3_V3|NOELIN3_V4|NOELIN3_V5|NOELIN3_V6|OPTIMEDIN noelin 3|noelin-3|olfactomedin related ER localized protein 3|olfactomedin-3 protein-coding 1323306 OLFM4 olfactomedin 4 This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. The protein encoded is a member of the olfactomedin-related protein family. The exact function of this gene has not yet been determined. [provided by RefSeq] 2824652,19450592,18798264,18281536,17650212,16566923,12975309,12477932,11867215,11302958,19670418 10562 NM_006418,AL390736,CH471124,AF097021,AK000683,AK300947,AY358567,BC047740,BC117329 NP_006409,CAH71311,EAW52052,EAW52053,AAC72970,BAG62576,AAQ88930,AAH47740,AAI17330,Q6UX06,ADR83035 Hs.508113 GC1|GW112|KIAA4294|OLM4|OlfD|UNQ362|bA209J19.1|hGC-1|hOLfD G-CSF-stimulated clone 1 protein|antiapoptotic protein GW112|olfactomedin-4 protein-coding 1323529 OLFML1 olfactomedin-like 1 18708057,15489334,15340161,12975309,12477932,16344560 283298 NM_198474,AC107884,CH471064,AK297778,AK298137,AY358591,BC035895,BC092488,BX647908,CR591365,CR624488,DB257515,DC397336 AAH92488,NP_940876,EAW68655,EAW68656,EAW68657,EAW68658,BAG60123,BAG60415,AAQ88954,AAH35895,CAI46097,Q5HYE3,Q6UWY5 Hs.503500 UNQ564 MVAL564|olfactomedin-like protein 1 protein-coding 1323220 OLFML2A olfactomedin-like 2A 737633,1580863 16344560,14702039,12975309,12477932 737633 169611 NM_182487,AL354928,CH471090,AB119055,AK074164,AK074709,AK092255,AL050002,AY191222,AY358185,BC011693,BC013281,BC054001,DA727926 NP_872293,CAI39634,CAI39635,CAI39636,EAW87596,EAW87597,BAD38864,BAB84990,AAP20104,AAQ88552,AAH54001,Q56VW4,Q5JTM7,Q68BL7,Q8TEG0 Hs.357004 FLJ00237|PRO34319 olfactomedin-like protein 2A|photomedin-1 protein-coding 1319500 OLFML2B olfactomedin-like 2B 12477932,19587794,19948975,20379614 25903 AL590408,CH471067,AB119054,AK301499,AK316154,AL050137,BC047472,BC067274,BX648975,CR600954,NM_015441,AL391825 CAH71496,EAW90696,EAW90697,EAW90698,BAD38863,BAG63010,BAH14525,CAB43286,AAH47472,AAH67274,CAI45982,Q68BL8,NP_056256,CAH73984,CAH73987 Hs.507515 MGC51337|RP11-227F8.1 OTTHUMP00000025712|olfactomedin-like protein 2B|photomedin-2 protein-coding 1322385 OLFML3 olfactomedin-like 3 15280020,14702039,12975309,12477932,9373149,8125298,16169070,16710414,16303743,16289162,15489334 56944 NM_020190,AL731797,CH471122,CS051143,CS051313,AF201945,AK075353,AK075369,AK075479,AK075544,AK092766,AK222471,AK223221,AK297902,AY358954,AY464015,BC009920,CR593069,CR595134,CR596335,CR597657,CR598507,CR598729,CR599952,CR601422,CR602607,CR602631,CR603678,CR606952,CR608311,CR608635,CR610491,CR610535,CR610849,CR613617,CR615262,CR617511,CR618552,CR618591,CR624364,CR625123 NP_064575,CAI22797,CAI22798,EAW56594,EAW56595,CAI72067,CAI72151,AAF86881,BAC11564,BAC11644,BAC11687,BAD96191,BAD96941,BAG60222,AAQ89313,AAR88262,AAH09920,Q9NRN5,ABM83707,ABM87027 Hs.9315 HNOEL-iso|OLF44 hOLF44|olfactomedin-like protein 3 protein-coding 1351843 OLFR@ olfactory receptor cluster 4972 1350271 OLIG1 oligodendrocyte transcription factor 1 1580863 17690840,17388669,17283288,17171653,16820418,16267213,15604411,15489334,14516699,12617822,12477932,11526205,11091082,10830953,10719889 116448 NM_138983,AP000289,CH471079,AB209791,AL355743,AL834450,AW298788,BC011252,BC026989,BC033290,BK000278 NP_620450,EAX09848,BAD93028,CAD39110,AAH26989,AAH33290,DAA01058,Q59EM0,Q8TAK6,ABM87827 Hs.725241 BHLHB6|BHLHE21 OTTHUMP00000067600|OTTHUMP00000199731|basic domain, helix-loop-helix protein, class B, 6|class B basic helix-loop-helix protein 6|class E basic helix-loop-helix protein 21|oligo1|oligodendrocyte lineage transcription factor 1|oligodendrocyte transcription factor 1|oligodendrocyte-specific bHLH transcription factor 1 protein-coding 1316088 OLIG2 oligodendrocyte lineage transcription factor 2 This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq] 1580863 11498220,10830953,10737801,19093005,18552083,18312545,17964117,17951409,17934761,17918228,17917751,17690840,17431671,17283288,17171653,17010574,16891421,16682644,16582099,16554441,16469306,16344560,16267213,16103065,15839736,15489334,15198128,14702039,14576772,14573534,12477932,11526205,18029348,19477230,19772605,20081802 10215 NM_005806,NG_011834,AP000286,AP000287,CH471079,AF221520,AK091462,AU130620,BC034681,BC036245,BC036275,BC047511,U48250 NP_005797,EAX09851,AAF61215,BAG52365,AAH34681,AAH36245,AAH47511,AAC72247,Q05BP9,Q13516,Q49AL3 Hs.176977 BHLHB1|OLIGO2|PRKCBP2|RACK17|bHLHe19 OTTHUMP00000067570|OTTHUMP00000196006|basic domain, helix-loop-helix protein, class B, 1|class B basic helix-loop-helix protein 1|class E basic helix-loop-helix protein 19|human protein kinase C-binding protein RACK17|oligodendrocyte transcription factor 2|oligodendrocyte-specific bHLH transcription factor 2|protein kinase C binding protein 2|protein kinase C-binding protein 2|protein kinase C-binding protein RACK17 protein-coding 1314358 OLIG3 oligodendrocyte transcription factor 3 18794853,17982456,15769945,15489334,14702039,14574404,14516699,12477932,20453841,20921970,11091082,20549515,18029348,19879194,20353580,20439292 167826 NM_175747,AL023580,BK000141,CH471051,AK096362,BC051352 NP_786923,CAI20348,DAA00303,EAW47930,BAC04768,AAH51352,Q7RTU3,ABZ92416 Hs.195398 Bhlhb7|bHLHe20 class B basic helix-loop-helix protein 7|class E basic helix-loop-helix protein 20|oligo3|oligodendrocyte transcription factor 3 protein-coding 731042 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 This gene encodes a receptor protein which belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternative transcript variants have been described but their full-length sequence has not been determined. [provided by RefSeq] 1580992,628368,1580993,1580994,1580995,1580996,1580997,633385,1580863 12073608,20691427,20692795,21037509,16285995,16251892,16173915,16146427,16061745,16013913,15976314,15939022,15935375,15860461,15855339,15838273,15797645,15780115,15727724,15695803,15562935,15529384,15489334,15480893,15472120,15342556,15276231,15060104,15001526,15000751,14684693,12878212,12829655,12810610,12807963,12646204,12646194,12637341,12566375,12504834,12477932,12419941,12384789,12354387,12232563,16328515,9052782,19452449,19358829,19279231,19252093,19247493,19218767,19150883,19104003,19080712,18996102,18845619,18801483,18781352,18755461,18636435,18544637,18514661,18474940,18469066,18408244,18390905,18388896,18384690,18367271,18220661,18191942,18191876,18173546,18054331,18053692,17992634,17963022,17923264,17909223,17854420,17717293,17538005,17416594,17306253,17050011,17022953,16829343,16690797,16511086,16434026,11985903,11915516,11821063,11745369,11728449,11284714,11256994,11196705,11034947,10377073,10325241,10085242,9933026,9837956,9828121,9763655,9703956,9693095,20203069,15792802,16188066,19203752,19272636,19342029,19487339,19574336,19578796,19667111,19687346,19730000,19801851,19929426,19948975,19961348,20009034,20023241,20136518,20146162,20181930,20379614,19930880,19913121,20485444,20602615,20615707,20628086 1580992,628368,1580993,1580994,1580995,1580996,1580997,633385 4973 AK298040,AK308009,AK316353,BC022295,BP219342,BQ028409,CA309323,CB955704,CR602659,NM_002543,AC024224,AF079164,AF079167,AJ131757,CH471094,DQ314885,AB010710,AB102861,AF035776,AK292124,AK295409,AL551100,BC055085,NG_016743,NM_001172632,NM_001172633,CS443020 BAG60339,BAH14724,AAH22295,P78380,ABM82335,ABM85511,NP_002534,AAC97927,CAB38175,EAW96156,EAW96157,EAW96158,EAW96159,ABC40744,BAA24580,BAC81565,AAC82329,BAF84813,BAG58360,NP_001166103,NP_001166104,CAL68889 Hs.412484 CLEC8A|LOX1|LOXIN|SCARE1|SLOX1 C-type lectin domain family 8 member A|hLOX-1|lectin-type oxidized LDL receptor 1|ox LDL receptor 1|oxidised low density lipoprotein (lectin-like) receptor 1|oxidized low-density lipoprotein receptor 1|oxidized low-density lipoprotein receptor 1, soluble form|scavenger receptor class E, member 1 protein-coding 1349527 OMA1 OMA1 homolog, zinc metallopeptidase (S. cerevisiae) 737633,1580863 20877624,17615298,14702039,12886954,12477932,20038677 737633 115209 NM_145243,AL109845,AL365187,CH471059,AB048348,AK091101,AK308847,BC012915 NP_660286,CAI22238,CAI22239,CAI13522,CAI13523,CAI13524,CAI13525,CAI13526,CAI13527,EAX06631,EAX06632,EAX06633,EAX06634,BAC79381,BAC03583,AAH12915,Q96E52 Hs.425769 2010001O09Rik|DAB1|FLJ33782|MPRP-1|YKR087C|ZMPOMA1 OTTHUMP00000011757|metalloendopeptidase OMA1, mitochondrial|metalloprotease related protein 1|metalloprotease-related protein 1|overlapping activity with M-AAA protease protein-coding 736115 OMD osteomodulin 1580863 15489334,14673660,12975309,12489179,12477932,10913920,9566981,9373149,8125298,19700767 4958 NM_005014,AB009589,AL137848,CH471089,AB000114,AK225922,AK313055,AY358872,BC046356 NP_005005,BAA23982,CAI16696,EAW62821,BAA19055,BAG35886,AAQ89231,AAH46356,Q99983 Hs.94070 OSAD|SLRR2C KSPG osteomodulin|keratan sulfate proteoglycan osteomodulin|osteoadherin proteoglycan|osteomodulin|osteomodulin (osteoadherin) protein-coding 1352154 OMG oligodendrocyte myelin glycoprotein 1580863 12716421,19034380,17632510,16425041,16344560,15489334,12566166,12477932,12068310,9373149,8244377,8125298,3283151,2277079,1899288,1688857,12426574,12692556,12951563,17335080 4974 NM_002544,AC134669,CH471147,X57436,AK222663,AK312445,BC018050,BG704091,DA206834,M63623,T27382,X51694 NP_002535,EAW80279,EAW80280,CAA40684,BAD96383,AAH18050,AAA59970,CAA35991,P23515,Q53HB8,ABM83257,ABM86461 Hs.113874 OMGP oligodendrocyte-myelin glycoprotein protein-coding 734264 OMP olfactory marker protein Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq] 737796,1580863 17207965,8790421,15489334,12911636,12477932,12054873,8754248,8499899,8034318,19913121,20628086 737796 4975 NM_006189,AP000752,CH471076,U01212,BC069115,BC069365 ADQ32896,NP_006180,EAW75017,AAA20485,AAH69115,AAH69365,P47874 Hs.673853 olfactory marker protein|olfactory neuronal-specific protein protein-coding 732947 ONECUT1 one cut homeobox 1 729198,1580863 10491763,18459945,18097590,17283222,15520459,15304484,14988562,14570708,12509444,12477932,12379144,11279202,10825208,10811635,10430878,9915796,9231664,8887657,8790352 729198 3175 NM_004498,AC016044,AF035581,CH471082,Y17739,BC140830,EU532019,U77975,U96173 NP_004489,AAD02033,EAW77461,CAB50769,AAI40831,ACB30402,AAB61705,AAD00826,Q9UBC0 Hs.658573 HNF-6|HNF6|HNF6A hepatocyte nuclear factor 6|hepatocyte nuclear factor 6, alpha|one cut domain family member 1|one cut domain, family member 1 protein-coding 1354460 ONECUT2 one cut homeobox 2 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq] 1580863 19336002,9915796,18418398,18288132,16912168,14702039,12477932,11478782 9480 BC108925,NM_004852,AC090340,CH471096,AK021717,AK124558,BC013134,BC108926,CR590917,Y18198 NP_004843,EAW63045,CAB38253,O95948 Hs.194725 MGC120377|MGC120378|OC-2|OC2 HNF-6-beta|ONECUT-2 homeodomain transcription factor|OTTHUMP00000216457|hepatocyte nuclear factor 6-beta|one cut domain family member 2|one cut domain, family member 2|onecut 2|transcription factor ONECUT-2 protein-coding 1351058 ONECUT3 one cut homeobox 3 15057824,11944891,11181995,9915796 390874 NM_001080488,AC004755,AC005256,CH471139 NP_001073957,AAC17602,EAW69464,O60422 Hs.654347 OC3 OC-3|one cut domain family member 3|one cut domain, family member 3|transcription factor ONECUT-3 protein-coding 1351084 OOEP oocyte expressed protein homolog (dog) 17913455,12477932,11181995 441161 NM_001080507,AC019205,CH471051,BC024931,BX093821,EU290647 NP_001073976,EAW48772,ABX84389,A6NGQ2 Hs.671212 C6orf156|FLOPED|HOEP19|KHDC2 KH homology domain containing 2|KH homology domain-containing protein 2|oocyte and embryo protein 19|oocyte- and embryo-specific protein 19|oocyte-expressed protein homolog protein-coding 1344166 OPA1 optic atrophy 1 (autosomal dominant) This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20417568,20417570,12842213,12566046,12543739,12477932,12161614,12123827,12073024,12036970,11810296,11810270,11735024,11440989,11017079,9917792,9628581,9490303,20385391,20484224,11017080,12509422,11847212,12504110,19409380,19319978,19181907,19165527,19112530,19046944,19029523,18783614,18678599,18653586,18488399,18360822,18287570,18222991,18204809,18158317,18079692,18076378,18065439,17826766,17724190,17722006,17718388,17709430,17709429,17615298,17579882,17545159,17415700,17318099,17306754,17188070,17188046,17024226,17016536,17003040,16785854,16778770,16737747,16617242,16513463,16344560,16331355,16323009,16240368,16158427,16115883,16021496,16006781,15832306,15700187,15635063,15534475,15531309,15505825,15489334,15356267,15146197,15144186,14970223,14702039,14644237,14566653,14551537,14516807,20436456,20843780,19325939,19493956,19581274,19619285,19733158,19754948,19969356,20157015,20157369,20357201,20877624,21036400 4976 AB011139,AK022107,AK022522,BC035393,BC043443,BC058013,BC075805,BQ774938,CN314824,CR612060,DA993450,NM_130834,NM_130836,NM_015560,NM_130835,NM_130832,NM_130833,NM_130831,NG_011605,AC048351,AC069421,AC106710,AF416919,AF416920,CH471052,NM_130837,FB714787,FB714791,FB714793,FB714795,HQ204906,HQ204907,HQ204908,HQ204909,HQ204910,HQ204911,HQ204912,HQ204913,HQ204914,HQ204915,HQ204916,HQ204917,HQ204918,HQ204919,HQ204920,HQ204921,HQ204922,HQ204923,HQ204924,HQ204925,HQ204926,HQ204927,HQ204928,HQ204929,HQ204930,HQ204931,HQ204932,HQ204933,HQ204934,HQ204935,HQ204936,HQ204937,HQ204938,HQ204939,HQ204940,HQ204941,HQ204942,HQ204943,HQ204944,HQ204945 EAW78068,EAW78069,EAW78070,EAW78071,EAW78072,BAA25493,AAH58013,AAH75805,O60313,Q6PEK6,NP_570850,NP_570847,NP_570849,NP_056375,NP_570848,NP_570845,NP_570846,NP_570844,EAW78064,EAW78065,EAW78066,EAW78067,CAS91638,CAS91640,CAS91641,CAS91642,ADP90054,ADP90055,ADP90056,ADP90057,ADP90058,ADP90059,ADP90060,ADP90061,ADP90062,ADP90063,ADP90064,ADP90065,ADP90066,ADP90067,ADP90068,ADP90069,ADP90070,ADP90071,ADP90072,ADP90073,ADP90074,ADP90075,ADP90076,ADP90077,ADP90082,ADP90083,ADP90084,ADP90085,ADP90086,ADP90087,ADP90088,ADP90089,ADP90090,ADP90091,ADP90092,ADP90093,ADP90094,ADP90095,ADP90096,ADP90097,ADP90098,ADP90099,ADP90100,ADP90101,ADP90102,ADP90103,ADP90104,ADP90105,ADP90106,ADP90107,ADP90108,ADP90109,ADP90110,ADP90111,ADP90112,ADP90113,ADP90114,ADP90115,ADP90116,ADP90117,ADP90118,ADP90119,ADP90120,ADP90121,ADP90122,ADP90123,ADP90124,ADP90125,ADP90130,ADP90131,ADP90132,ADP90133,ADP90138,ADP90139,ADP90140,ADP90141,ADP90142,ADP90143,ADP90144,ADP90145,ADP90146,ADP90147,ADP90148,ADP90149,ADP90150,ADP90151,ADP90152,ADP90153,ADP90154,ADP90155,ADP90156,ADP90157,ADP90162,ADP90163,ADP90164,ADP90165,ADP90166,ADP90167,ADP90168,ADP90169,ADP90170,ADP90171,ADP90172,ADP90173,ADP90174,ADP90175,ADP90176,ADP90177,ADP90178,ADP90179,ADP90180,ADP90181,ADP90182,ADP90183,ADP90184,ADP90185,ADP90186,ADP90187,ADP90188,ADP90189,ADP90190,ADP90191,ADP90192,ADP90193,ADP90194,ADP90195,ADP90196,ADP90197,ADP90198,ADP90199,ADP90200,ADP90201,ADP90202,ADP90203,ADP90319,ADP90320,ADP90204,ADP90321,ADP90322,ADP90205,ADP90206,ADP90207,ADP90208,ADP90209,ADP90210,ADP90211,ADP90212,ADP90213,ADP90214,ADP90215,ADP90216,ADP90217,ADP90218,ADP90219,ADP90220,ADP90221,ADP90222,ADP90223,ADP90224,ADP90225,ADP90226,ADP90227,ADP90228,ADP90229,ADP90234,ADP90235,ADP90236,ADP90237,ADP90238,ADP90239,ADP90240,ADP90241,ADP90242,ADP90243,ADP90244,ADP90245,ADP90246,ADP90247,ADP90248,ADP90249,ADP90250,ADP90251,ADP90252,ADP90253,ADP90258,ADP90259,ADP90260,ADP90261,ADP90262,ADP90263,ADP90264,ADP90265,ADP90266,ADP90267,ADP90268,ADP90269,ADP90270,ADP90271,ADP90272,ADP90273,ADP90274,ADP90275,ADP90276,ADP90277,ADP90278,ADP90279,ADP90280,ADP90281,ADP90282,ADP90283,ADP90284,ADP90285,ADP90286,ADP90287,ADP90288,ADP90289,ADP90290,ADP90291,ADP90292,ADP90293,ADP90294,ADP90295,ADP90296,ADP90297,ADP90298,ADP90299,ADP90300,ADP90301,ADP90306,ADP90307,ADP90308,ADP90309,ADP90310,ADP90311,ADP90312,ADP90313,ADP90314,ADP90315,ADP90316,ADP90317,ADP90318,ADP90323,ADP90324,ADP90325,ADP90326,ADP90327,ADP90328,ADP90329,ADP90330,ADP90331,ADP90332,ADP90333,ADP90334,ADP90335,ADP90336,ADP90337,ADP90338,ADP90339,ADP90340,ADP90341,ADP90342,ADP90343,ADP90344,ADP90345,ADP90346,ADP90347,ADP90348,ADP90349,ADP90350,ADP90351,ADP90352,ADP90353,ADP90354,ADP90355,ADP90356,ADP90357,ADP90358,ADP90359,ADP90360,ADP90361,ADP90362,ADP90363,ADP90364,ADP90365,ADP90366,ADP90367,ADP90368,ADP90369,ADP90370,ADP90371,ADP90372,ADP90373 Hs.594504 FLJ12460|KIAA0567|MGM1|NPG|NTG|largeG dynamin-like 120 kDa protein, mitochondrial|mitochondrial dynamin-like 120 kDa protein|mitochondrial dynamin-like GTPase|optic atrophy protein 1 protein-coding 1354152 OPA2 optic atrophy 2 (obscure) 9382106 4977 1319326 OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1580863 15489336,15489334,14702039,13703570,12477932,12126933,11076863,9097959,8889548,20350831,15342707,11668429,19319978,16838891,16381901,16344560,20372962,11256614,12865426,18614015,20801516,20877624,21036400 80207 NM_001017989,NM_025136,AC006117,AC006261,AC011480,CH471126,CS300703,AK025840,AK098798,BC005059,BC047316,BC064146,CA944687,DB034102,BU617706,NG_013332 NP_001017989,NP_079412,EAW57367,CAK32367,BAB15255,BAC05415,AAH05059,AAH47316,AAH64146,Q9H6K4,CAL37564,ACE86958 Hs.466945,Hs.723713 FLJ22187|FLJ25932|MGA3|MGC75494 Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')|optic atrophy 3 protein protein-coding 1317163 OPALIN oligodendrocytic myelin paranodal and inner loop protein 1580863 11256614,18490449,17442045,16381901,16344560,15489336,15489334,12477932,11814680,11230166,11076863 93377 DA314221,DA402678,NM_001040102,NM_033207,NM_001040103,AL136181,CH471066,AF367761,AK289835,AK296462,AK296562,AK309095,AK311260,AK316090,AL834229,BC024191,BC033737 AAH33737,Q5W102,Q96PE5,CAL37624,NP_001035191,NP_149984,NP_001035192,CAH72985,EAW49977,EAW49978,AAK62349,BAF82524,BAG59108,BAG59182,BAH14461,CAD38907,CAL37930 Hs.12449 HTMP10|TMEM10|TMP10 opalin|transmembrane protein 10|transmembrane protein TMP10 protein-coding 731778 OPCML opioid binding protein/cell adhesion molecule-like This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily. The encoded protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 1333602,7721093,7891157,18714356,18584347,18179137,17967182,17239010,17159813,17109515,16384911,15489334,15146195,14702039,12819783,12477932,9110174,8619474,8244387,19913121,20628086,20379614 4978 NM_002545,NG_012107,AP000843,AP000863,AP000903,AP003029,AP003784,AP003972,AP004606,AP004782,AP005122,AP005133,AP005638,CH471065,AF070577,AK125185,AK289695,AK299528,AK299908,AK314077,AK315859,AK316273,AK316491,BC074742,BC074773,BC117254,BC126251,BC143945,BC143946,BX537377,EU562295,EU562296,EU562297,EU562298,EU562299,EU562300,L34774,NM_001012393,U79251,W39242 NP_001012393,NP_002536,EAW67804,EAW67805,BAF82384,BAG61477,BAG61748,BAF98750,BAH14644,BAH14862,AAH74742,AAH74773,AAI17255,AAI26252,AAI43946,AAI43947,CAD97619,ACB56655,ACB56656,ACB56657,ACB56658,ACB56659,ACB56660,AAA36387,Q14982,Q6B0I4,Q7Z3W6 Hs.4817,Hs.720580 IGLON1|OBCAM|OPCM IgLON family member 1|opiate binding-cell adhesion molecule|opioid binding protein/cell adhesion molecule-like preprotein|opioid-binding cell adhesion molecule|opioid-binding protein/cell adhesion molecule|opioid-binding protein/cell adhesion molecule-like protein-coding 1343134 OPEM ophthalmoplegia, external, with myopia 4981 1345567 OPHN1 oligophrenin 1 This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq] 1580863 15772651,9582072,18930891,18261018,18029348,17845870,16221952,15026118,15342556,12807966,12805098,12777533,12477932,11998687,11595131,11161835,10818214,10439959,9195162,19911011,20479760 4983 NM_002547,NG_008960,AB102191,AB102192,AB102193,AB102194,AB102195,AB102196,AB102197,AB102198,AB102199,AB102200,AB102201,AB102202,AB102203,AB102204,AB102205,AB102206,AB102207,AK309665,AK309696,BC059393,BC140763,BP357826,CR605867,AB102208,AB102209,AB102210,AJ248245,AJ248267,AL157700,AL158201,AL672138,AX022628,AX022629,CH471132,Z82203,AB102656,AJ001189,AK295769 BAC80706,NP_002538,BAC80690,BAC80691,BAC80692,BAC80693,BAC80694,BAC80695,BAC80696,BAC80697,BAC80698,BAC80699,BAC80700,BAC80701,BAC80702,BAC80703,BAC80704,BAC80705,AAH59393,AAI40764,O60890,Q6PCC1,Q7Z2H1,BAC80707,BAC80708,BAC80709,CAB96181,CAD18899,CAI40982,CAI41508,CAC07882,EAX05378,CAI42695,BAC81125,CAA04579,BAG58594 Hs.128824 ARHGAP41|MRX60|OPN1 mental retardation, X-linked 60|oligophrenin-1|oligophrenin-1, Rho-GTPase activating protein protein-coding 1350998 OPHN1P1 oligophrenin 1 pseudogene 1 266698 NG_002375,AP000534 pseudo 733077 OPLAH 5-oxoprolinase (ATP-hydrolysing) 1580863 15146197,14993790,12477932,20413906 26873 NM_017570,AC109322,AF024672,AF024673,AB122018,AF217994,AL096750,BC036944,BC041576,BC142672,BC150206,CN279004 NP_060040,AAB81519,BAD13434,AAG17236,CAB46426,AAI42673,AAI50207,O14841,Q9HBQ9,AAI40371 Hs.305882 5-Opase|DKFZp434H244|OPLA 5-oxo-L-prolinase|5-oxoprolinase|pyroglutamase protein-coding 1346667 OPN1LW opsin 1 (cone pigments), long-wave-sensitive This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq] 1580863 20801516,20880066,20579627,3303660,9860863,2937147,7643192,19493002,19386593,17655910,16020309,15772651,15252758,12107411,12051694,11181995,11063754,9541545,9430642,8889548,8857542,8792812,8213841,8146162,7566098,2501212,1617223,1557123,14517278,20220053,14691252,18240029,19189139,20075512 5956 NM_020061,NG_009105,CH471172,M13301,M13305,Z68193,AW950066,BM688032,BQ637240,CR749814,EL949562,EL952084 NP_064445,EAW72756,AAB59524,CAA92342,CAM28377,CAH18674,P04000,Q68CR4,AAI56644 Hs.592247 CBBM|CBP|COD5|RCP|ROP ROP|cone dystrophy 5 (X-linked)|long-wave-sensitive opsin 1|red cone photoreceptor pigment|red-sensitive opsin protein-coding 1347075 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq] 1580863 19386593,16020309,12853434,12477932,20579627,12051694,10319869,9815288,9494086,8857542,8792812,7643192,3303660,2937147,2574415,1302020,20220053,19189139,19956635 2652 NM_000513,NG_011606,AC092402,K03494,K03497,X54675,BC140938,BC143790,BC171754,BC171755 NP_000504,AAB59503,AAB59525,CAA38486,AAI40939,AAI43791,AAI71754,AAI71755,P04001,Q9UQS0,AAI56777 Hs.247787 CBBM|CBD|COD5|GCP|GOP|MGC176615|MGC177321|MGC198468|MGC198469|OPN1MW1|OPN1MW2 GOP|cone dystrophy 5 (X-linked)|green cone photoreceptor pigment|green cone pigment|green-sensitive opsin|medium-wave-sensitive opsin 1|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)|photopigment apoprotein protein-coding 1605739 OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq] 1302020,2937147,10319869,19493002,15772651,3303660,12853434,18240029,8857542 728458 NM_001048181,AC092402 NP_001041646,P04001 Hs.571751 GOP|OPN1MW GOP|green cone photoreceptor pigment|green-sensitive opsin|medium-wave-sensitive opsin 1 protein-coding 736424 OPN1SW opsin 1 (cone pigments), short-wave-sensitive This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq] 1580863 9089077,2937147,19493002,19386593,16961973,12809157,12690205,8889548,8270261,3485310,3303660,2565599,1742276,1531728,1386496,18240029,19189139,20801516 611 NG_009094,AC024952,CH236950,CH471070,L32835,M13299,U53874,BM666330,CR599610,DQ822478,M26172,NM_001708 NP_001699,EAL24112,EAW83680,AAL31362,AAB05207,AAC51334,ABH01259,AAA35608,P03999,Q0PJU0,AAI56720 Hs.656404 BCP|BOP|CBT blue cone photoreceptor pigment|blue-sensitive opsin|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)|short-wave-sensitive opsin 1 protein-coding 1345705 OPN3 opsin 3 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq] 1580863 10234000,18344558,16710414,15489334,14623461,12477932,12242008,12063405,11401433,8889548,18240029,19626040 23596 NM_014322,AF482426,AL133390,CH471098,AF140242,AF303588,AK310307,BC036773,BC051900,BC062622,BC073872,BM679966,CB989739,CR591433,CR600728,CR619681 NP_055137,AAO15715,AAO15717,CAC19785,EAW70097,EAW70098,EAW70099,AAD32671,AAK37447,AAH36773,AAH62622,AAH73872,Q6GMT1,Q6P5W7,Q9H1Y3 Hs.727602,Hs.409081 ECPN encephalopsin|opsin 3 (encephalopsin, panopsin)|opsin-3 protein-coding 1349299 OPN4 opsin 4 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20554694,15674244,10632589,18804284,16961436,16687290,15716953,15674243,15489334,15203218,12853434,12477932,12163844,8889548,16754659,18577758,16385451,18240029,19470168,20180986 94233 NM_001030015,NM_033282,AB065730,AC067750,AF147788,CH471142,DQ314804,AK310520,BC029291,BC113558,BM672338,CD634966,CD634974,BC143688 NP_001025186,NP_150598,BAC05951,AAF24978,EAW80330,EAW80331,ABC40723,AAI13559,Q9UHM6,AAI43689 Hs.283922 MGC142118|MOP OTTHUMP00000020007|melanopsin|opsin 4 (melanopsin)|opsin-4 protein-coding 737573 OPN5 opsin 5 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this gene may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1302390 18354391,15774036,15489334,14702039,14623103,14623098,14574404,12679517,12477932,16344560,18240029 1302390 221391 NM_181744,AL161622,AL356421,CH471081,AK097448,AY255615,AY288419,AY377391,BC042544,BC126194,BC126198,BX647224,HC044661,DB056067,NR_033806 NP_859528,CAI20454,EAX04324,AAO85127,AAP72128,AAR21109,AAI26195,AAI26199,Q6U736,CBH30660,ADR82953 Hs.213717 GPR136|NEUROPSIN|PGR12|TMEM13 G-protein coupled receptor 136|OTTHUMP00000217680|OTTHUMP00000217681|g protein-coupled receptor 136|neuropsin|opsin-5|transmembrane protein 13 protein-coding 731961 OPRD1 opioid receptor, delta 1 1580863,2316589,2316590,2316587,2316592 20734064,21079607,11259487,11085981,11078827,11076863,11076532,11069979,11040053,10982041,10385123,9166747,8415697,8393523,8201839,8020949,1671672,1335167,9548483,7808419,10788493,19344370,19183129,19086053,19058789,19032295,19000170,18753988,18703511,18687376,18676680,18537939,18518925,18455254,18395423,18307412,18213616,18200497,18182056,17622222,17588601,17565992,17550902,17503481,17374034,16808998,16806108,16741914,16710414,16331961,16053916,15317820,15086532,14999000,14745298,14535952,12847517,12740597,12477932,12413885,12142540,12116270,11316510,11278447,11259507,16325578,18240029,19170196,19416973,19520863,19581316,19625176,19692168,19874574,20066010,20237496,20468064,2834384,20300121,20528919,18577758 2316589,2316590,2316587,2316592 4985 NM_000911,AL009181,CH471059,BF434068,EU883570,U07882,U10504,EF057065 NP_000902,CAA15671,EAX07672,ACG60644,AAA18789,AAA83426,P41143,AAI11839,ABO25742 Hs.372 OPRD D-OR-1|DOR-1|delta opioid receptor 1|delta-type opioid receptor protein-coding 69478 OPRK1 opioid receptor, kappa 1 1580863 8755601,16431922,7624359,19086053,19058789,19032295,18767415,18537939,18518925,18353307,18319328,18213616,17711303,17702750,17622222,17538007,17374034,17373729,17121830,16924269,16331961,16053916,15952771,15608558,15489334,15070904,14745298,14702039,12815037,12477932,12413885,12004055,11316510,11223000,11069979,10959409,10871647,9572309,8188308,8060324,7929306,7869844,11931835,14718611,15086532,18212250,18240029,19804796,19874574,20468064,18577758,20734064 4986 NM_000912,AC009646,CH471068,U16860,AF498922,AK023198,AK310233,AK310407,AK313058,AY168006,AY466378,BC099912,L36130,L37362,U11053,U17298 NP_000903,EAW86723,AAA56758,AAM21070,BAG35888,AAN87342,AAR36879,AAH99912,AAA63646,AAA63906,AAA20985,AAC50158,P41145,Q8IWP3 Hs.106795 KOR|OPRK K-OR-1|KOR-1|Opiate receptor, kappa-1|kappa opioid receptor|kappa-type opioid receptor protein-coding 68657 OPRL1 opiate receptor-like 1 The protein encoded by this gene is a G protein-coupled receptor whose expression can be induced by phytohemagglutinin. The encoded integral membrane protein is a receptor for the 17 aa neuropeptide nociceptin/orphanin FQ. This gene may be involved in the regulation of numerous brain activities, particularly instinctive and emotional behaviors. A promoter for this gene also functions as a promoter for another gene, regulator of G-protein signalling 19 (RGS19), located on the opposite strand. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 10571060,10965058,7566152,8137918,19058789,18286384,18269382,18247127,17910740,17456499,17167337,16807742,16800795,15489334,15276231,15016723,14660000,12801588,12576178,12568343,12477932,12399106,12393946,12130708,11780052,11238602,11097863,11090272,10998524,10692489,9862775,7500847,15086532,2834384,20682755,15146197,18577758,18191876,18240029,19501074,19874574,20032820,9521323 4987 NM_000913,AF217689,AL121581,AL590548,CH471077,AF115266,AF126470,AF285093,AF285094,AF285095,AF348323,AK308203,AY268428,BC038433,CR542061,CR542082,CR604892,L40949,U30185,X77130,NM_182647,AW451157,CN267465,NM_001200019 Q6FGM5,Q8IXB0,ABM84132,ABM84133,ABW03593,NP_872588,NP_000904,AAG42351,CAC17003,CAD11904,EAW75162,EAW75163,AAO13224,AAL54890,AAG42691,AAG42692,AAG42693,AAK11714,AAP23195,AAH38433,CAG46858,CAG46879,AAA96251,AAA84913,CAA54386,P41146,NP_001186948 Hs.2859 KOR-3|MGC34578|NOCIR|OOR|ORL1 LC132 receptor-like|OTTHUMP00000031642|kappa-type 3 opioid receptor|kappa3-related opioid receptor|nociceptin receptor|orphanin FQ receptor protein-coding 737513 OPRM1 opioid receptor, mu 1 2316630,2316601,2316609,2316611,2316626,2316589 18577758,19438807,18687376,16046395,18650805,18579306,18574543,18574501,18540916,18537939,18523482,18518925,18518884,18499348,18482155,18455254,18433502,18419726,18411709,18403122,18384978,18349186,18341216,18319252,18250953,18250251,18213616,18195715,18182056,18181266,18028530,18004207,17990281,17979515,17978999,17898703,17877633,17855614,17768272,17680363,17635908,17592483,17578917,17503481,17497362,17416470,17395891,17374034,17224915,17207095,17201465,17157823,17156920,18676680,17054695,17005904,17000822,16960700,16914208,16879459,16871067,16843022,16842630,16808998,16794569,16682632,16679777,16580900,16580639,16542645,16476706,16435402,16402083,16400534,16387451,16315033,16140553,16133302,16123758,16122888,16103897,16053916,17126529,20074870,20525224,9689128,7905839,2159143,9242668,19609488,19605407,19598235,19581571,19545447,19523047,19341791,19336912,19336370,19303332,19282821,19240053,19219857,19167252,19164126,19103668,19086053,19077058,19074885,19058789,19053977,19032295,19018716,19016889,19008867,18803909,18795264,18719451,18709298,18690118,18690117,15988758,15933215,15902904,15893644,15772909,15731588,15704610,15608594,15558714,15542732,15525999,15504181,15494033,15489334,15448587,15448191,15322094,15252283,15194868,15167694,15037869,15007373,14745298,14744466,14623376,14532289,12960749,12898579,12815747,12813472,12810704,12734358,12657887,12648891,12627468,12589820,12519790,12477932,12413885,12357145,12210283,12142540,12141912,12123746,12068084,12031654,11933204,11840318,11751037,11457836,11424981,11338173,11278523,11140838,11092766,11076532,11069979,11060299,10874510,10690754,10682855,10656608,10393893,10336124,9572309,9399694,9326307,9312100,8393523,7957926,7891175,7488213,16846840,11445868,14530949,15086532,20734064,20842020,21029375,21037510,21039348,21039637,21049025,21070507,20560679,20668445,14573758,16892066,18240029,19119631,19170196,19272466,19416973,19447888,19501658,19519662,19520863,19528663,19542234,19573600,19604083,19625176,19666113,19683391,19692168,19706472,19764432,19764934,19775452,19783098,19791836,19845769,19860800,19874574,19891732,19956635,19959593,19959688,20003118,20107485,20110084,20112002,20171873,20194481,20230086,20237803,20379614,20384434,20411349,20424473,20468064,20478633,20486014,20528823,8208289,8393525 2316630,2316601,2316609,2316611,2316626,2316589 4988 NM_001008504,NM_001145284,NM_001145287,AF024516,AF024517,AF153500,AF547997,AL132774,AL136444,AL445220,AY292290,AY292291,AY299483,AY587764,CH471051,AK313901,AY036622,AY036623,AY195733,AY225404,AY309001,AY309005,AY309006,AY309007,AY309008,AY309009,AY364230,AY364890,AY521028,AF024515,BC074927,DQ680044,EF666090,EU340241,EU340242,EU340243,EU360599,EU362990,GQ258059,L25119,L29301,U12569,NM_001145279,NM_001145280,NM_001145281,NM_001008503,NM_000914,NM_001145282,NM_001145283,NM_001145286,NM_001145285,NM_001008505,AL359850,NG_021208 NP_001008505,NP_001008504,NP_001138756,AAC51877,AAC51878,AAD44318,AAQ12260,CAI20458,AAP44409,AAP44410,AAP58255,AAS83107,EAW47704,EAW47705,BAG36624,AAK74189,AAK74190,AAO21305,AAP44727,AAQ77385,AAQ77389,AAQ77390,AAQ77391,AAQ77392,AAQ77393,AAR12887,AAR11568,AAS00462,NP_001138759,AAH74927,ABH03503,ACA49726,ACA49727,ACA49728,ABY61366,ABY66530,ACT35692,AAA20580,AAA73958,AAB60354,O43185,P35372,Q6UPP1,Q716A7,Q71V90,Q7Z6A5,Q86V80,NP_001138751,NP_001138752,NP_001138753,NP_001008503,NP_000905,NP_001138754,NP_001138755,NP_001138758,NP_001138757 Hs.2353 KIAA0403|LMOR|MOR|MOR1|OPRM M-OR-1|MOP|OTTHUMP00000017463|hMOP|mu opiate receptor|mu-type opioid receptor protein-coding 1312631 OPTC opticin Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq] 1580863 10636917,17474147,17563717,17359525,16335952,15489334,15090426,12951322,12477932,12019215,11641609,10892843,10837509,19536175,19844586,20201926 26254 NM_014359,AL391817,CH471067,AF161702,AJ133790,AY077681,BC074942,BC074943,BF724878,NG_022886 NP_055174,CAI17034,CAI17035,EAW91482,AAD45900,CAB53459,AAL78286,AAH74942,AAH74943,Q9UBM4 Hs.632468 OPT oculoglycan|opticin protein-coding 736202 OPTN optineurin This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1600995 14627677,14597044,12939304,12920093,12912697,12811537,12646749,12477932,12379221,11834836,11495908,11137014,10807909,10756201,10366446,9700202,9497264,9110174,8619474,18683701,20801516,21074290,21074902,15837803,9488477,19340308,19172505,19145250,19096531,18552856,18385781,18307994,18195223,17854769,17702576,17663725,17615537,17563717,17293779,17148662,17122126,17081983,16988596,16972651,16885925,16885188,16688110,16681888,16440206,16374045,16358725,16205626,16189514,16148883,16091361,16043855,16020311,15851979,15557444,15498064,15489334,15370540,15326130,15231748,15226658,15164054,14755458,14740994,14702039,20668460,20671613,20634958,20161783,15867431,16385451,18029348,19615732,19710941,19754948,20085643,20174559,20379614,20428114,20436471 1600995 10133 NM_001008211,NM_001008213,NM_001008212,NM_021980,AF283527,AL355355,CH471072,AF049614,AF061034,AF070533,AF420371,AF420372,AF420373,AK055403,AK122746,AK303715,AK316171,BC013876,BC032762,BI552635,CR597026,CR601600,CR603260,CR614451,NG_012876 NP_001008212,NP_001008214,NP_001008213,NP_068815,AAG00497,CAI16549,CAI16550,CAI16551,CAI16552,EAW86301,EAW86302,EAW86303,EAW86304,EAW86305,EAW86306,EAW86307,EAW86308,EAW86309,AAC26850,AAC16046,AAC16047,AAL76327,AAL76328,AAL76329,BAG51512,BAG64696,BAH14542,AAH13876,AAH32762,Q96CV9,ABM84577,ABM86746 Hs.332706 ALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP E3-14.7K-interacting protein|FIP-2|HIP-7|Huntingtin interacting protein L|OTTHUMP00000019129|huntingtin yeast partner L|huntingtin-interacting protein 7|huntingtin-interacting protein L|nemo-related protein|optic neuropathy-inducing protein|optineurin|transcription factor IIIA-interacting protein|transcrption factor IIIA-interacting protein|tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains protein-coding 1342541 OR10A2 olfactory receptor, family 10, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,18446592,16554811,14983052,12213199,11416212 341276 NM_001004460,AC087280,AF321237,AF399490,BK004293,BK004535,BC136955 NP_001004460,AAG45207,DAA04691,AAI36956,Q9H208 Hs.371762 OR10A2P|OR11-82|OR11-86|OST363 hP4 olfactory receptor|olfactory receptor 10A2|olfactory receptor OR11-82 pseudogene|olfactory receptor OR11-86|olfactory receptor, family 10, subfamily A, member 2 pseudogene protein-coding 1351222 OR10A3 olfactory receptor, family 10, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1370859,16554811,14983052,12477932,12213199 26496 NM_001003745,AB065768,AB065940,AC044810,AF399634,BK004404,CH471064,BC137031,BC137032,X64986 NP_001003745,BAC05988,BAC06155,AAK95119,DAA04802,EAW68641,AAI37032,AAI37033,P58181,Q8NG90 Hs.381322 HSHTPCRX12|HTPCRX12 olfactory receptor 10A3|olfactory receptor OR11-97 protein-coding 1350333 OR10A4 olfactory receptor, family 10, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,11705801,11416212,12477932 283297 NM_207186,AC087280,AF321237,AF399625,BK004201,CH471064,AF209506,BC137024,BC137027 NP_997069,AAG45205,AAK95110,DAA04599,EAW68674,AAL32993,AAI37025,AAI37028,Q6IFR1,Q9H209 Hs.448685 JCG5|OR10A4P hP2 olfactory receptor|olfactory receptor 10A4|olfactory receptor OR11-87|olfactory receptor, family 10, subfamily A, member 4 pseudogene|olfactory receptor-like protein JCG5 protein-coding 1353648 OR10A5 olfactory receptor, family 10, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9787077,15489334,14983052,12477932,12213199,11705801,11416212 144124 AC087280,AF065874,AF321237,AF399623,AF399624,BK004296,CH471064,AF324499,BC093651,BC093653,NM_178168 Q9H207,NP_835462,AAC70019,AAG45206,AAK95108,AAK95109,DAA04694,EAW68675,AAL33005,AAH93651,AAH93653,Q6IFG6 Hs.447478 JCG6|OR10A1|OR11-403 HP3|olfactory receptor 10A1|olfactory receptor 10A5|olfactory receptor 11-403|olfactory receptor OR11-85|olfactory receptor, family 10, subfamily A, member 1|olfactory receptor-like protein JCG6 protein-coding 1344283 OR10A6 olfactory receptor, family 10, subfamily A, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390093 NM_001004461,AB065515,AB065588,AC044810,BK004403,CH471064 NP_001004461,BAC05763,BAC05817,DAA04801,EAW68642,Q8NH24,Q8NH74,AAI56509 Hs.528593 OR11-96 olfactory receptor 10A6|olfactory receptor OR11-96 protein-coding 1346847 OR10A7 olfactory receptor, family 10, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 121364 NM_001005280,AB065864,AC090048,AF399626,BK004327,CH471054,CS248122 NP_001005280,BAC06082,AAK95111,DAA04725,EAW96804,CAJ56588,Q8NGE5 Hs.554557 OR12-6 olfactory receptor 10A7|olfactory receptor OR12-6 protein-coding 1348991 OR10AA1P olfactory receptor, family 10, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81487 NG_004278,AL513205 pseudo 1350101 OR10AB1P olfactory receptor, family 10, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 390091 NG_004153,AB065766,AC021427,AF399452,BK004574 pseudo 1353230 OR10AC1P olfactory receptor, family 10, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 392133 NG_004374,AB065605,AC073264,CH236959 BAC05833,EAL23791,Q8NH08 OR10AC1 pseudo 1319909 OR10AD1 olfactory receptor, family 10, subfamily AD, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 121275 NM_001004134,AB065872,AC024257,AF399474,BK004354,CH471111,CS248150,BC136757,BC136758 NP_001004134,BAC06090,DAA04752,EAW57978,CAJ56602,AAI36758,AAI36759,Q8NGE0 Hs.446790 OR10AD1P|OR12-1 olfactory receptor 10AD1|olfactory receptor OR12-1|olfactory receptor, family 10, subfamily AD, member 1 pseudogene protein-coding 1347264 OR10AE1P olfactory receptor, family 10, subfamily AE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81486 NG_004277,AL606752 OR10AE2P pseudo 1346669 OR10AE3P olfactory receptor, family 10, subfamily AE, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403223 NG_004401,AC009779 pseudo 1352805 OR10AF1P olfactory receptor, family 10, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282769 NG_004298,AP003033 pseudo 1350024 OR10AG1 olfactory receptor, family 10, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,14983052 282770 NM_001005491,AB065594,AP003033,BK004519,CH471076,CS248588,BC136890,BC136891 NP_001005491,BAC05822,DAA04917,EAW73692,CAJ56810,AAI36891,AAI36892,Q8NH19 Hs.554525 OR11-160 olfactory receptor 10AG1|olfactory receptor OR11-160 protein-coding 1323425 OR10AH1P olfactory receptor, family 10, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 402246 NG_004397,AC092028 pseudo 1352142 OR10AK1P olfactory receptor, family 10, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403224 NG_004402,AP003033 pseudo 1342490 OR10B1P olfactory receptor, family 10, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 401903 NG_002201,AB065575,AC003956,AC004794 AAC18916 OR10B2 pseudo 1353336 OR10C1 olfactory receptor, family 10, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,14574404,12637542,12213199,12477932,19833159 442194 NM_013941,AB065471,AF399627,AL035542,AL049739,AL645927,AL662869,BK004207,BX004810,BX927133,CH471081,CR848056,AJ459860,BC136996,BC136997,BX248400,CR388393,CR759768 NP_039229,BAC05728,AAK95112,CAB44507,CAI18054,CAI17485,DAA04605,CAI95548,CAQ10415,EAX03194,CAQ06866,AAI36997,AAI36998,Q6IFQ5,Q8NHA7,Q96KK4,CAQ09887,CAQ10823 Hs.631997 OR10C1P|OR10C2|OR6-31|hs6M1-17 olfactory receptor 10C1|olfactory receptor 10C2|olfactory receptor OR6-31|olfactory receptor, family 10, subfamily C, member 2|seven transmembrane helix receptor protein-coding 1352383 OR10D1P olfactory receptor, family 10, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1370859 26541 NG_004126,AP000818,X64981 Hs.512487 HTPCRX03|OR10D2P|OST074 pseudo 1354061 OR10D3P olfactory receptor, family 10, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,1370859 26497 NG_004125,AB065509,AP000818,BK004425,X64983 BAC05757,DAA04823,Q8NH80 Hs.538726 HTPCRX09|OR10D3|OR10D3P pseudo 1354039 OR10D4P olfactory receptor, family 10, subfamily D, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390266 NG_003196,AB065753 BAC05973,Q8NGN7 OR10D4|OR10D6P pseudo 1344456 OR10D5P olfactory receptor, family 10, subfamily D, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79488 NG_002254,AC019108 pseudo 1349001 OR10G1P olfactory receptor, family 10, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9110172,8188290 26540 NG_001332,AE000658 pseudo 1343948 OR10G2 olfactory receptor, family 10, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,9110172,8188290,12477932 26534 NM_001005466,NG_001332,AB065894,AE000658,BK004670,CH471078,BC137371,BC137382 NP_001005466,BAC06110,EAW66374,AAI37372,AAI37383,Q8NGC3 Hs.554580 OR14-41 olfactory receptor 10G2|olfactory receptor OR14-41 pseudogene protein-coding 1346604 OR10G3 olfactory receptor, family 10, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,9110172,8188290 26533 NM_001005465,NG_001332,AB065893,AE000658,AF399566,BK004525,CH471078 NP_001005465,BAC06109,AAK95051,DAA04923,EAW66376,Q8NGC4,AAI56815 Hs.554581 OR14-40 olfactory receptor 10G3|olfactory receptor OR14-40 protein-coding 1349061 OR10G4 olfactory receptor, family 10, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,20379614 390264 AB065757,AC019108,AP001884,BK004502,CH471065,CS248296,NM_001004462 NP_001004462,BAC05977,DAA04900,EAW67565,CAJ56671,Q8NGN3 Hs.553760 OR11-278 olfactory receptor 10G4|olfactory receptor OR11-278 protein-coding 1353755 OR10G5P olfactory receptor, family 10, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79515 NG_002261,AC019108 pseudo 1354122 OR10G6 olfactory receptor, family 10, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 79490 NG_002255,AB065508,AC019108,BK004312 BAC05756,DAA04710,Q8NH81 OR10G6P|OR10G6Q pseudo 1344862 OR10G7 olfactory receptor, family 10, subfamily G, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390265 NM_001004463,AB065754,AC019108,AP001884,BK004314,CH471065,CS248092 NP_001004463,BAC05974,DAA04712,EAW67568,CAJ56573,Q8NGN6 Hs.553761 OR11-283 olfactory receptor 10G7|olfactory receptor OR11-283 protein-coding 1346605 OR10G8 olfactory receptor, family 10, subfamily G, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 219869 NM_001004464,AB065755,AC019108,AP001884,BK004510,BK004571,CH471065,CS248300,BC136917,BC136920 NP_001004464,BAC05975,DAA04908,EAW67567,CAJ56673,AAI36918,AAI36921,Q8NGN5 Hs.553635 OR11-274|OR11-282 olfactory receptor 10G8|olfactory receptor OR11-274 pseudogene|olfactory receptor OR11-282 protein-coding 1349215 OR10G9 olfactory receptor, family 10, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 219870 NM_001001953,AB065756,AP001884,BK004760,CH471065 NP_001001953,BAC05976,EAW67566,Q8NGN4 Hs.553636 OR10G10P olfactory receptor 10G10|olfactory receptor 10G9|olfactory receptor OR11-272 protein-coding 1353311 OR10H1 olfactory receptor, family 10, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15057824,14983052,12477932,12213199 26539 NM_013940,AC004510,AC114267,AF399584,BK004210,CH471106,BC130360,BC132969 NP_039228,AAC08454,AAK95069,DAA04608,EAW84505,AAI30361,AAI32970,Q9Y4A9,ADR83358 Hs.533925 olfactory receptor 10H1|olfactory receptor OR19-27 protein-coding 1350293 OR10H2 olfactory receptor, family 10, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,15057824,14983052,12477932,12213199 26538 NM_013939,AC004597,AC104533,AF399585,BK004211,CH471106,BC069085,BC069457,BC112178,BC113647 NP_039227,AAC14388,AAK95070,DAA04609,EAW84502,AAH69085,AAH69457,AAI12179,AAI13648,O60403,ADR82894 Hs.247694 MGC138383 olfactory receptor 10H2|olfactory receptor OR19-23 protein-coding 1348272 OR10H3 olfactory receptor, family 10, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,15057824,14983052,12665801,12477932 26532 NM_013938,AC004597,BK004212,CH471106,BC106707,BC113844 NP_039226,AAC14389,DAA04610,EAW84503,AAI06708,AAI13845,O60404 Hs.553524 MGC119147|MGC119149 olfactory receptor 10H3|olfactory receptor OR19-24 protein-coding 1344881 OR10H4 olfactory receptor, family 10, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 126541 NM_001004465,AB065921,AC011517,AF399586,BK004270,CH471106,CS248352 NP_001004465,BAC06136,AAK95071,DAA04668,EAW84516,CAJ56696,Q8NGA5 Hs.553579 OR19-28 olfactory receptor 10H4|olfactory receptor OR19-28 protein-coding 1348904 OR10H5 olfactory receptor, family 10, subfamily H, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 284433 NM_001004466,AB065920,AC011537,AF399583,BK004271,BK004272,CH471106,CS248344,BC136869 NP_001004466,BAC06135,AAK95068,DAA04669,DAA04670,EAW84504,CAJ56864,AAI36870,Q8NGA6 Hs.553676 OR19-25|OR19-26 olfactory receptor 10H5|olfactory receptor OR19-25|olfactory receptor OR19-26 protein-coding 1353981 OR10J1 olfactory receptor, family 10, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 20237162,12477932,12213199,1370859,17903294,17903293,15489334,14983052 26476 NM_012351,AF399587,AL663023,BK004527,CH471121,X64995,BC069150,BC112290,BC112292 NP_036483,AAK95072,CAH70964,DAA04925,EAW52784,CAA46128,AAH69150,AAI12291,P30954 Hs.532661 HGMP07J|HSHGMP07J|MGC138495|MGC138497 olfactory receptor 10J1|olfactory receptor OR1-26|olfactory receptor-like protein HGMP07J protein-coding 1347161 OR10J2P olfactory receptor, family 10, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 391117 NG_004364,AL513323 pseudo 1347047 OR10J3 olfactory receptor, family 10, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 19372141,17903293,16710414,14983052,12213199,19423540,20406964,20438785,20237162 441911 NM_001004467,AB065445,AF399453,AL513323,BK004532 NP_001004467,CAI15595,Q5JRS4 Hs.553833 OR1-25|OR10J3P olfactory receptor 10J3|olfactory receptor OR1-25 pseudogene|olfactory receptor, family 10, subfamily J, member 3 pseudogene protein-coding 1343836 OR10J4 olfactory receptor, family 10, subfamily J, member 4 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 17973576,16710414,12213199 391121 NG_004367,AL663023 P0C629 OR10J4P|OST717 pseudo 1349251 OR10J5 olfactory receptor, family 10, subfamily J, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17903294,14983052,12908129,12477932 127385 AY284378,AY284379,AY284380,AY284381,AY284382,AY284383,AY284384,AY284385,AY284386,AY284387,AY284388,BK004290,CH471121,CS248146,BC137025,BC137026,AB065443,AL606752,AY284357,AY284358,AY284359,AY284360,AY284361,AY284362,AY284363,AY284364,AY284365,AY284366,AY284367,AY284368,AY284369,AY284370,AY284371,AY284372,AY284373,AY284374,AY284375,AY284376,AY284377,NM_001004469 AAP32627,AAP32628,AAP32629,AAP32630,AAP32631,AAP32632,AAP32633,AAP32634,AAP32635,AAP32636,AAP32637,AAP32638,DAA04688,EAW52783,CAJ56600,AAI37026,AAI37027,Q86SE3,Q86UG6,Q8NHC4,NP_001004469,BAC05709,CAI16580,AAP32607,AAP32608,AAP32609,AAP32610,AAP32611,AAP32612,AAP32613,AAP32614,AAP32615,AAP32616,AAP32617,AAP32618,AAP32619,AAP32620,AAP32621,AAP32622,AAP32623,AAP32624,AAP32625,AAP32626 Hs.553587 OR1-28 olfactory receptor 10J5|olfactory receptor OR1-28 protein-coding 1348573 OR10J6P olfactory receptor, family 10, subfamily J, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 401973 NG_004393,AB065629,AL445528 BAC05855,Q8NGY7 OR10J6 pseudo 1349895 OR10J7P olfactory receptor, family 10, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 391119 NG_004365,AL513323 pseudo 1349799 OR10J8P olfactory receptor, family 10, subfamily J, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 343409 NG_004308,AL513323 pseudo 1349334 OR10J9P olfactory receptor, family 10, subfamily J, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 391120 NG_004366,AL513323 pseudo 1351615 OR10K1 olfactory receptor, family 10, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932,20677014 391109 NM_001004473,AB065641,AL365440,BK004190,CH471121,CS248374,BC137323,BC137324 NP_001004473,BAC05867,CAH70558,DAA04588,EAW52825,CAJ56707,AAI37324,AAI37325,Q8NGX5 Hs.690410 OR1-6 olfactory receptor 10K1|olfactory receptor OR1-6 protein-coding 1349498 OR10K2 olfactory receptor, family 10, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052 391107 NM_001004476,AB065642,AL121986,BK004363,CH471121,CS248206 NP_001004476,BAC05868,CAI10868,DAA04761,EAW52826,CAJ56628,Q6IF99,Q8NGX4 Hs.626815 OR1-4 olfactory receptor 10K2|olfactory receptor OR1-4 protein-coding 1353700 OR10N1P olfactory receptor, family 10, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390267 NG_004339,AP000818 pseudo 1346412 OR10P1 olfactory receptor, family 10, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16541075,14983052,12213199,12477932 121130 CH471054,BC136914,NM_206899,AB065867,AC009779,AF399489,BK004259 EAW96817,AAI36915,Q8NGE3,Q8NH36,NP_996782,BAC06085,DAA04657 Hs.554551 OR10P1P|OR10P2P|OR10P3P|OR12-7|OST701 olfactory receptor 10P1|olfactory receptor 10P2|olfactory receptor 10P3|olfactory receptor OR12-7|olfactory receptor, family 10, subfamily P, member 1 pseudogene|olfactory receptor, family 10, subfamily P, member 2 pseudogene|olfactory receptor, family 10, subfamily P, member 3 pseudogene|seven transmembrane helix receptor protein-coding 1352906 OR10Q1 olfactory receptor, family 10, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 219960 NM_001004471,AB065735,AP004247,BK004298,CH471076,CS248100,BC140731 NP_001004471,BAC05956,DAA04696,EAW73801,CAJ56577,AAI40732,Q8NGQ4 Hs.553646 OR11-233 olfactory receptor 10Q1|olfactory receptor OR11-233 protein-coding 1343046 OR10Q2P olfactory receptor, family 10, subfamily Q, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81345 NG_004249,AP000435 pseudo 1349106 OR10R1P olfactory receptor, family 10, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79513 NG_002259,BK004528 OR1-10 pseudo 1354093 OR10R2 olfactory receptor, family 10, subfamily R, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,14983052,12213199 343406 NM_001004472,AB065640,AF399582,AL365440,BK004191,CH471121 NP_001004472,BAC05866,AAK95067,CAH70559,DAA04589,EAW52824,Q8NGX6 Hs.451913 OR1-8|OR10R2Q OTTHUMP00000021112|olfactory receptor 10R2|olfactory receptor OR1-8 protein-coding 1348144 OR10R3P olfactory receptor, family 10, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 391110 NG_004362,AB065639,AF399451,AL365440,BK004673,AK122667 BAC05865,Q8NGX7 Hs.640254 OR1-9 pseudo 1349590 OR10S1 olfactory receptor, family 10, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,12477932 219873 NM_001004474,AB065758,AC019108,AF399565,AP001884,BK004509,CH471065,BC137037,BC137038 NP_001004474,BAC05978,AAK95050,DAA04907,EAW67563,AAI37038,AAI37039,Q8NGN2 Hs.553637 OR11-279 olfactory receptor 10S1|olfactory receptor OR11-279 protein-coding 1353132 OR10T1P olfactory receptor, family 10, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79514 NG_002260 pseudo 1350212 OR10T2 olfactory receptor, family 10, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052,20677014 128360 NM_001004475,AB065643,AL121986,BK004364,CH471121,CS248080 NP_001004475,BAC05869,CAI10867,DAA04762,EAW52827,CAJ56567,Q8NGX3,AAI56268,AAI57048 Hs.553588 OR1-3 olfactory receptor 10T2|olfactory receptor OR1-3 protein-coding 1350638 OR10U1P olfactory receptor, family 10, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390318 NG_004344,AC090048 pseudo 1350461 OR10V1 olfactory receptor, family 10, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 390201 NM_001005324,AB065807,AF399593,AP000640,BK004323,CH471076 EAW73852,Q8NGI7,NP_001005324,BAC06026,AAK95078,DAA04721 Hs.589001 OR11-256 olfactory receptor 10V1|olfactory receptor OR11-256 protein-coding 1605030 OR10V2P olfactory receptor, family 10, subfamily V, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10737800 81343 NG_004248,AP000640 pseudo 1344207 OR10V3P olfactory receptor, family 10, subfamily V, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81342 NG_004247,AP000640 pseudo 1348477 OR10V7P olfactory receptor, family 10, subfamily V, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403225 NG_005817,AL355839 pseudo 1349715 OR10W1 olfactory receptor, family 10, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12975309,12477932 81341 NM_207374,AB065850,AP000435,BK004490,CH471076,AY358251,BC132848,BC132850 ADR82922,NP_997257,BAC06068,DAA04888,EAW73802,AAQ88618,AAI32849,AAI32851,Q8NGF6 Hs.531507 OR10W1P|OR10W1Q|OR11-236|UNQ6469 olfactory receptor 10W1|olfactory receptor OR11-236|olfactory receptor, family 10, subfamily W, member 1 pseudogene protein-coding 1342523 OR10X1 olfactory receptor, family 10, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052,12213199 128367 NM_001004477,AB065636,AF399455,AL160283,BK004194,BK004529,CH471121 NP_001004477,BAC05862,CAH72417,DAA04592,EAW52821,Q8NGY0 Hs.553589 OR1-13|OR1-14|OR10X1P OTTHUMP00000021114|olfactory receptor 10X1|olfactory receptor OR1-13 pseudogene|olfactory receptor OR1-14|olfactory receptor, family 10, subfamily X, member 1 pseudogene protein-coding 1605031 OR10Y1P olfactory receptor, family 10, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81340 NG_004245,AP000640 pseudo 1350384 OR10Z1 olfactory receptor, family 10, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052,20677014 128368 NM_001004478,AB065635,AL353894,BK004195,CH471121 NP_001004478,BAC05861,CAH73935,DAA04593,EAW52820,Q8NGY1 Hs.553590 OR1-15 olfactory receptor 10Z1|olfactory receptor OR1-15 protein-coding 1346770 OR11A1 olfactory receptor, family 11, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,14574404,12637542,12477932,19851445,20379614 26531 NM_013937,AC004174,AJ302614,AJ302615,AJ302616,AJ302617,AJ302618,AJ302619,AJ302620,AJ302621,AJ302622,AJ302623,AL035542,AL645927,AL662869,BK004208,BX004810,BX927133,CH471081,CR388393,CR759768,CR848056,AJ459857,BC131608,BX248400 NP_039225,CAC20534,CAC20535,CAC20536,CAC20537,CAC20538,CAC20539,CAC20540,CAC20541,CAC20542,CAC20543,CAB44508,CAI18053,CAI17484,DAA04606,CAI95547,CAQ10414,EAX03192,EAX03193,CAQ10822,CAQ09886,CAQ06865,CAD31040,AAI31609,Q9GZK7 Hs.676010 OR11A2|dJ994E9.6|hs6M1-18 OTTHUMP00000029333|OTTHUMP00000108301|olfactory receptor 11A1|olfactory receptor 11A2|olfactory receptor OR6-30|olfactory receptor, family 11, subfamily A, member 2 protein-coding 1343821 OR11G1P olfactory receptor, family 11, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390438 NG_004352,AL163152 pseudo 1354303 OR11G2 olfactory receptor, family 11, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 390439 NM_001005503,AB065897,AF399610,AL356019,BK004453 NP_001005503,BAC06113,AAK95095,DAA04851,Q8NGC1,AAI48505 Hs.554582 OR14-34 olfactory receptor 11G2|olfactory receptor OR14-34 protein-coding 1346649 OR11H1 olfactory receptor, family 11, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 81061 NM_001005239,AB065933,AF399611,AP000534,BK004492,CS248078 NP_001005239,BAC06148,AAK95096,DAA04890,CAJ56566,Q8NG94 Hs.554706 OR22-1 olfactory receptor 11H1|olfactory receptor OR22-1|seven transmembrane helix receptor protein-coding 1604898 OR11H12 olfactory receptor, family 11, subfamily H, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932 440153 NM_001013354,CR383656,BC136730,BC136731 NP_001013372,AAI36731,AAI36732,B2RN74 Hs.534880 olfactory receptor 11H12 protein-coding 1604896 OR11H13P olfactory receptor, family 11, subfamily H, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16572171,15489334,14983052,14702039 440159 NG_004865,AB065941,AL589743,BK004794 BAC45263,Q8IXE0 ORNP-NP1 pseudo 1349951 OR11H2 olfactory receptor, family 11, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79334 AB065607,AL139799,AL512310,BK004489,NM_001197287 Q8NH07,DAA04887,BAC05834,NP_001184216 C14orf15|OR11H2P|OR11H8P olfactory receptor 11H2|olfactory receptor OR14-1|olfactory receptor, family 11, subfamily H, member 2 pseudogene|olfactory receptor, family 11, subfamily H, member 8 pseudogene|seven transmembrane helix receptor protein-coding 1343903 OR11H3P olfactory receptor, family 11, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81113 NG_004166,AC134980 pseudo 1345740 OR11H4 olfactory receptor, family 11, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390442 NM_001004479,AB065887,AL356019,BK004455,CH471078,CS248290,BC137054,BC137055 NP_001004479,BAC06104,DAA04853,EAW66484,CAJ56668,AAI37055,AAI37056,Q8NGC9 Hs.553767 OR14-36 olfactory receptor 11H4|olfactory receptor OR14-36 protein-coding 1352626 OR11H5P olfactory receptor, family 11, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390440 NG_004353,AL356019 pseudo 1344961 OR11H6 olfactory receptor, family 11, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 122748 NM_001004480,AB065889,AL356019,BK004454,CH471078,CS248288 NP_001004480,BAC06106,DAA04852,EAW66485,CAJ56667,Q8NGC7 Hs.553575 olfactory receptor 11H6|olfactory receptor OR14-35 protein-coding 1346960 OR11H7 olfactory receptor, family 11, subfamily H, member 7 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 17973576,14983052,12730696,12508121,12213199 390441 NG_004354,AL356019 Q8NGC8 OR11H7P pseudo 1342728 OR11H8P olfactory receptor, family 11, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 326319 NG_002568,AB065607,AL512310 C14orf15 pseudo 1604779 OR11I1P olfactory receptor, family 11, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12644552,12213199 81479 NG_003221,AB065444 OR11I2P pseudo 1347910 OR11J1P olfactory receptor, family 11, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81111 NG_004165,AC134980 pseudo 1605617 OR11J2P olfactory receptor, family 11, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81110 NG_004164,AC037471 pseudo 1344426 OR11J5P olfactory receptor, family 11, subfamily J, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403226 NG_004403,AC037471 pseudo 2974687 OR11J6P olfactory receptor, family 11, subfamily J, member 6 pseudogene 100288148 AC183089,NG_022100 pseudo 2974688 OR11J7P olfactory receptor, family 11, subfamily J, member 7 pseudogene 100288112 AC183089,NG_022120 pseudo 1343705 OR11K1P olfactory receptor, family 11, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81109 NG_004163,AB065906,AC134980 BAC06121,Q8NGB5 pseudo 1345215 OR11K2P olfactory receptor, family 11, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 401742 NG_004392,AL512310 pseudo 1342706 OR11L1 olfactory receptor, family 11, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,14983052 391189 NM_001001959,AB065646,AC099571,BK004461,CH471148,BC140753 NP_001001959,BAC05872,DAA04859,EAW77204,AAI40754,Q6IF01,Q8NGX0 Hs.553781 olfactory receptor 11L1|olfactory receptor OR1-50 protein-coding 1606176 OR11M1P olfactory receptor, family 11, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 121270 NG_004284,AC079951 pseudo 1349424 OR11N1P olfactory receptor, family 11, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 392540 NG_004381,AL590806 pseudo 1351492 OR11P1P olfactory receptor, family 11, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282795 NG_004302,AL163152 pseudo 1353527 OR11Q1P olfactory receptor, family 11, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403227 NG_004404,AL603758 pseudo 1354423 OR12D1P olfactory receptor, family 12, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26530 NG_002196,AL035542,AL645927,AL662869,BX004810,BX248400,BX927133,CR388393,CR759768 OR12D1|hs6M1-19 pseudo 1345064 OR12D2 olfactory receptor, family 12, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,14574404,12637542,12477932,11282967,19833159,19851445 26529 NM_013936,AC004171,AL035542,AL645927,AL662869,BK004523,CH471081,AJ459861,BC069123,BC101742,BC101746,BX005133,BX927232,CR388393,CR759808 NP_039224,CAB44510,CAI18051,CAI17482,DAA04921,EAX03191,AAH69123,AAI01743,AAI01747,P58182 Hs.247862 DJ994E9.8|HS6M1-20|MGC126791|MGC126795 olfactory receptor 12D2|olfactory receptor OR6-28 protein-coding 1352207 OR12D3 olfactory receptor, family 12, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 19851445,20205591,20466734,15489334,14983052,14574404,12637542,12477932 81797 BX005133,BX927232,CR388393,CR759808,NM_030959,AL096770,AL662781,AL732432,BK004439,CH471081,CS248370,AJ459858,BC069082,BC069154,BC103892,BC106898 NP_112221,CAB65796,CAI18132,DAA04837,EAX03190,CAJ56705,CAD31041,AAH69082,AAH69154,AAI03893,Q9UGF7 Hs.272280 MGC119267|MGC125888|hs6M1-27 OTTHUMP00000029057|olfactory receptor 12D3|olfactory receptor OR6-27 protein-coding 1603609 OR13A1 olfactory receptor, family 13, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 15164054,14983052,12477932 79290 NM_001004297,AB065728,AC011879,AL512324,BK004287,CH471160,CS248138,AK131555,BC104853,BC104855,BC143622 NP_001004297,BAC05949,CAH73801,DAA04685,EAW86641,CAJ56596,BAD18689,AAI04854,AAI04856,AAI43623,Q8NGR1 Hs.532435 FLJ16797 OTTHUMP00000019501|OTTHUMP00000217078|olfactory receptor 13A1|olfactory receptor OR10-3|seven transmembrane helix receptor protein-coding 1345206 OR13C1P olfactory receptor, family 13, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12906860,12213199 392377 NG_002246,AF399464,AL359846 OR37M pseudo 1345485 OR13C2 olfactory receptor, family 13, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15164053,14983052,12906860,12477932 392376 NM_001004481,AB065709,AL359846,BK004408,CH471105,CS248386,BC136824,BC136826 NP_001004481,BAC05931,CAH73574,DAA04806,EAW58987,CAJ56713,AAI36825,AAI36827,Q8NGS9 Hs.553789 OR37K olfactory receptor 13C2|olfactory receptor OR9-12 protein-coding 1354005 OR13C3 olfactory receptor, family 13, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 15164053,14983052,12906860,12477932 138803 BC136949,BC136952,NM_001001961,AB065713,AL450426,BK004410,CH471105 EAW58982,AAI36950,AAI36953,Q8NGS6,NP_001001961,BAC05934,CAH72411,DAA04808 Hs.553600 OR37G|OR9-8 olfactory receptor 13C3|olfactory receptor OR9-8 protein-coding 1344868 OR13C4 olfactory receptor, family 13, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15164053,14983052,12906860,12213199,1370859 138804 NM_001001919,AB065714,AF399602,AL450426,BK004411,CH471105,CS248516,X64991 NP_001001919,BAC05935,AAK95087,CAH72410,DAA04809,EAW58981,CAJ56775,Q8NGS5,AAI48383,AAI53008 Hs.553601 HSHTPCRX17|HTPCRX17|OR2K1|OR37F|OR9-7 olfactory receptor 13C4|olfactory receptor OR9-7|olfactory receptor, family 2, subfamily K, member 1 protein-coding 1347240 OR13C5 olfactory receptor, family 13, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15164053,14983052,12906860,12477932 138799 CS248390,BC136842,BC136843,NM_001004482,AB065710,AL450426,BK004409,CH471105 EAW58986,CAJ56715,AAI36843,AAI36844,Q8NGS8,NP_001004482,BAC05932,CAH72414,DAA04807 Hs.553598 OR9-11 olfactory receptor 13C5|olfactory receptor OR9-11 protein-coding 1351391 OR13C6P olfactory receptor, family 13, subfamily C, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12906860 392311 NG_004378,AL138834 OR37B pseudo 1351941 OR13C7P olfactory receptor, family 13, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12906860 81377 NG_002408,AL138834 OR13C7|OR37C|OST706 pseudo 1343666 OR13C8 olfactory receptor, family 13, subfamily C, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12906860,12213199,15164053 138802 NM_001004483,AB065711,AF399599,AL450426,BK004607,CH471105,CS248392 NP_001004483,BAC05933,AAK95084,CAH72412,EAW58983,CAJ56716,Q8NGS7,AAI40248,AAI41626 Hs.553599 OR37H|OR9-10 olfactory receptor 13C8|olfactory receptor OR9-10 pseudogene protein-coding 1353189 OR13C9 olfactory receptor, family 13, subfamily C, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12906860 286362 NM_001001956,AB065672,AB065708,AL359846,BK004250,CH471105,CS248224 NP_001001956,BAC05897,BAC05930,CAH73575,DAA04648,EAW58988,CAJ56637,Q8NGT0,Q8NGV4,AAI41487,AAI48771 Hs.553682 OR37L|OR9-13 olfactory receptor 13C9|olfactory receptor OR9-13 protein-coding 1350154 OR13D1 olfactory receptor, family 13, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 286365 NM_001004484,AB065671,AL359846,BK004251,CH471105,BC140916 NP_001004484,BAC05896,CAH73577,DAA04649,EAW58989,AAI40917,Q8NGV5 Hs.553683 OR9-15 olfactory receptor 13D1|olfactory receptor OR9-15 protein-coding 1353917 OR13D2P olfactory receptor, family 13, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 392375 NG_004380,AL450426 pseudo 1351506 OR13D3P olfactory receptor, family 13, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 402374 NG_004400,AL359846 pseudo 1345751 OR13E1P olfactory receptor, family 13, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 392308 NG_004377,AL133410 OR13E2|OST741 pseudo 1342816 OR13F1 olfactory receptor, family 13, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15164053,14983052,12477932 138805 NM_001004485,AB065715,AL450426,BK004412,CH471105,CS248394,BC140739 NP_001004485,BAC05936,CAH72409,DAA04810,EAW58980,CAJ56717,AAI40740,Q8NGS4 Hs.553602 OR9-6 olfactory receptor 13F1|olfactory receptor OR9-6 protein-coding 1349302 OR13G1 olfactory receptor, family 13, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 19166692,19056482,18599554,17975119,16710414,16175505,14983052,12477932,19023099,19709766 441933 NM_001005487,AB065623,AC026038,AL390860,BK004376,CH471148,BC136736,BC136738 NP_001005487,BAC05849,CAI16305,DAA04774,EAW77198,AAI36737,AAI36739,Q8NGZ3 Hs.553834 OR1-37 olfactory receptor 13G1|olfactory receptor OR1-37 protein-coding 1344200 OR13H1 olfactory receptor, family 13, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15772651,14983052,12908129,12213199,9268701,1840504,1370859,12477932 347468 NM_001004486,AB065938,AF399633,AL049734,AY284421,BK004524,CH471107,BC137050 NP_001004486,BAC06153,AAK95118,CAI42350,DAA04922,EAX11790,AAI37051,Q8NG92 Hs.553711,Hs.714693 ORX1 olfactory receptor 13H1|olfactory receptor ORX-1|olfactory receptor ORX1 protein-coding 1346011 OR13I1P olfactory receptor, family 13, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79538 NG_004626,AL359846 OR13I2P pseudo 1347486 OR13J1 olfactory receptor, family 13, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15164053,14983052,12213199,12477932 392309 NM_001004487,AB065705,AF399603,AL133410,BK004442,CH471071,CS248084,AY726589,BC136715,BC136716 NP_001004487,BAC05928,AAK95088,CAI10998,DAA04840,EAW58323,CAJ56569,AAI36716,AAI36717,Q8NGT2 Hs.527480 OR9-2 olfactory receptor 13J1|olfactory receptor OR9-2 protein-coding 1354025 OR13K1P olfactory receptor, family 13, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 402424 NG_004632,AL355366 pseudo 1353038 OR13Z1P olfactory receptor, family 13, subfamily Z, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403228 NG_004405,AL590667 pseudo 1351866 OR13Z2P olfactory receptor, family 13, subfamily Z, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403229 NG_004406,AL590667 pseudo 1352260 OR13Z3P olfactory receptor, family 13, subfamily Z, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403230 NG_005818,AL590667 pseudo 1352394 OR14A16 olfactory receptor, family 14, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 284532 NM_001001966,AB065441,AC099571,BK004366,CH471148,CS248188 NP_001001966,BAC05708,DAA04764,EAW77203,CAJ56620,Q8NHC5,AAI40461,AAI48710 Hs.626620 OR5AT1 olfactory receptor 14A16|olfactory receptor 5AT1|olfactory receptor OR1-45|olfactory receptor, family 5, subfamily AT, member 1 protein-coding 1342601 OR14A2 olfactory receptor, family 14, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 388761 NG_002409,AB065620,AC026038,AC118470,AF399589 Q96R54 OR5AX1|OR5AX1P pseudo 1353060 OR14C36 olfactory receptor, family 14, subfamily C, member 36 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052 127066 NM_001001918,AB065439,AL450303,BK004466,CH471148,CS248414 NP_001001918,BAC05706,CAH71667,DAA04864,EAW77223,CAJ56727,Q8NHC7 Hs.553583 OR5BF1 olfactory receptor 14C36|olfactory receptor 5BF1|olfactory receptor OR1-59|olfactory receptor, family 5, subfamily BF, member 1 protein-coding 1349157 OR14I1 olfactory receptor, family 14, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932 401994 NM_001004734,AC098483,CH471257,BC137188,BC137189 NP_001004734,EAW57530,AAI37189,AAI37190,A6ND48 Hs.449973 OR5BU1|OR5BU1P olfactory receptor 14I1|olfactory receptor 5BU1|olfactory receptor, family 5, subfamily BU, member 1 pseudogene protein-coding 1344262 OR14J1 olfactory receptor, family 14, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 19851445,14983052,14574404,12477932 442191 BX005432,BX927232,CR753509,CR936918,NM_030946,AL096770,AL662781,AL662857,BK004441,CH471081,CR759808,BC136905 NP_112208,CAB65799,CAI18129,CAI17513,DAA04839,EAX03186,CAQ07994,AAI36906,Q9UGF5 Hs.632004 OR5U1|OR6-25|bA150A6.4|hs6M1-28 olfactory receptor 14J1|olfactory receptor 5U1|olfactory receptor OR6-25|olfactory receptor, family 5, subfamily U member 1|olfactory receptor, family 5, subfamily U, member 1|olfactory receptor, family 5, subfamily u member 1 protein-coding 1345029 OR14K1 olfactory receptor, family 14, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16939646,14983052,12213199,11337468 343170 NG_007559,AB065624,AC118470,AF399590,BK004377,CH471148,CS248218 BAC05850,AAK95075,DAA04775,EAW77201,CAJ56634 OR1-39|OR1.5.9|OR5AY1 pseudo 1348185 OR14L1P olfactory receptor, family 14, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,16710414 127617 NG_004286,AB065440,AL606804,BK004470,BK004700 BAC05707,DAA04868,Q6IEZ2,Q8NHC6 OR1-35|OR1-36|OR5AV1|OR5AV1P|RP11-978I15.6 pseudo 1351186 OR1A1 olfactory receptor, family 1, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17601748,14983052,12477932,12213199,10673334 8383 NM_014565,AC090282,AF087918,AF399555,BK004241,CH471108,BC069169,BC128248,BC141934,BC141935 NP_055380,AAF37311,AAK95040,DAA04639,EAW90520,AAH69169,AAI28249,AAI41935,AAI41936,Q9P1Q5 Hs.532688 OR17-7 olfactory receptor 17-7|olfactory receptor 1A1|olfactory receptor OR17-11 protein-coding 1348312 OR1A2 olfactory receptor, family 1, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17601748,15489334,14983052,12477932,12213199,10673334 26189 NM_012352,AC090282,AF155225,AF399556,BK004242,CH471108,BC069092,BC106733,BC106734 NP_036484,AAD39545,AAK95041,DAA04640,EAW90521,AAH69092,AAI06734,AAI06735,Q9Y585 Hs.532660 MGC119930|MGC119931|OR17-6 olfactory receptor 17-6|olfactory receptor 1A2|olfactory receptor OR17-10 protein-coding 1351262 OR1AA1P olfactory receptor, family 1, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79312 NG_002238,AL049734 pseudo 1344765 OR1AB1P olfactory receptor, family 1, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81090 NG_004627,AC008894 pseudo 1350079 OR1AC1P olfactory receptor, family 1, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403231 NG_005819,AC087498 pseudo 1342799 OR1B1 olfactory receptor, family 1, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 18328065,15164053,14983052 347169 NM_001004450,AB065723,AL162254,BK004229,CH471090 NP_001004450,BAC05944,CAI16289,DAA04627,EAW87539,Q8NGR6 Hs.553710 OR9-26|OR9-B olfactory receptor 1B1|olfactory receptor 9-B|olfactory receptor OR9-26 protein-coding 1350511 OR1C1 olfactory receptor, family 1, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 633349,1580863 9119360,16710414,14983052,12213199,16939646,12477932 633349 26188 NM_012353,AB065625,AF399560,AL450999,BK004365,CH471148,CS248186,BC140914,X89674 NP_036485,BAC05851,AAK95045,CAH70622,DAA04763,EAW77202,CAJ56619,AAI40915,CAA61821,Q15619 Hs.381306 HSTPCR27|OR1-42|OR1.5.10|ORL211|TPCR27 olfactory receptor 1C1|olfactory receptor OR1-42|olfactory receptor TPCR27 protein-coding 1353920 OR1D2 olfactory receptor, family 1, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 68281,1580863 8004088,8097991,1370859,15489334,14983052,12663925,12477932,12213199,10673334,8665947,1840504,1315913,16820410 68281 4991 U04678,U53583,X65857,NM_002548,AC097370,AF087917,AF399535,BK004244,CH471108,BC069552,BC106735,BC106736 EAW90524,AAA18343,AAC99554,NP_002539,AAF37310,AAK95020,DAA04642,CAA46687,AAH69552,AAI06736,AAI06737,P34982 Hs.532771 MGC119942|MGC119943|OLFR1|OR17-4 olfactory receptor 17-4|olfactory receptor 1D2|olfactory receptor OR17-6|olfactory receptor-like protein HGMP07E protein-coding 1344146 OR1D3P olfactory receptor, family 1, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,10673334,9787077,8004088 8384 AB065606,AC090282,AF065866,AF065868,AF087919,AF399371,U04679,U04685,NG_002298,AB065571 OR11-13|OR11-22|OR17-23|OR1D6P|OR1D7P pseudo 1346947 OR1D4 olfactory receptor, family 1, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 8004088,14983052,12477932,12213199,10673334 653166 AC090282,BC118668,BC122528,NR_033795,AF087922,AF399534,BK004240,U04681,NG_026207 AAF37312,AAK95019,DAA04638,AAA18345,P47884,Q6IFL7,Q6IFM2,AAI72308 Hs.653087 MGC125396|MGC199013|OR17-30 olfactory receptor 17-30|olfactory receptor 1D4|olfactory receptor OR17-1 pseudo 1344373 OR1D5 olfactory receptor, family 1, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 1315913,14983052,12477932,12213199,10673334 8386 NM_014566,AC097370,AF087923,AF399533,BK004245,CS248334,U53930,BC106876 NP_055381,AAF37313,AAK95018,DAA04643,CAJ56690,AAD10841,AAI06877,A0AUK4,P58170,AAI52940 Hs.553508 C17orf2|OR17-2|OR17-30|OR17-31 olfactory receptor 17-31|olfactory receptor 1D5|olfactory receptor OR17-2 protein-coding 1347689 OR1E1 olfactory receptor, family 1, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 1370859,14983052,12213199,10706615,10673334,9500546,8004088,20379614 8387 NM_003553,AC087498,AF052041,AF087916,AF095725,AF179761,AF399550,BK004237,BK004353,CH471108,U04642,U04682,U78308,U86222,U86274,X64994 NP_003544,AAD17495,AAF37309,AAF03261,AAF40350,AAK95035,DAA04635,DAA04751,EAW90515,AAA17447,AAA18346,AAD00276,AAC39613,AAC39629,CAA46127,P30953,Q9NZP3,AAI66630 Hs.278485 HGM071|OR13-66|OR17-2|OR17-32|OR1E5|OR1E6|OR1E8P|OR1E9P|OST547 OR5-85|olfactory receptor 13-66|olfactory receptor 17-2/17-32|olfactory receptor 1E1|olfactory receptor 1E5|olfactory receptor 1E6|olfactory receptor 5-85|olfactory receptor OR17-18|olfactory receptor OR17-4|olfactory receptor, family 1, subfamily E, member 5|olfactory receptor, family 1, subfamily E, member 6|olfactory receptor, family 1, subfamily E, member 8 pseudogene|olfactory receptor, family 1, subfamily E, member 9 pseudogene|olfactory receptor-like protein HGMP07I protein-coding 1347026 OR1E2 olfactory receptor, family 1, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 8004088,15489334,14983052,12477932,12213199,10673334,9500546,804088 8388 U86241,U86242,BC121105,BC121106,NM_003554,AF087925,AF095725,AF399551,BK004235,BK004352,CH471108,CS248560,U04686,U76377 AAC39621,AAC39622,AAI21106,AAI21107,P47887,Q6IFB0,Q6IFM7,NP_003545,AAF37315,AAF03260,AAK95036,DAA04633,DAA04750,EAW90513,CAJ56797,AAA18349,AAD00249 Hs.533931 OR17-135|OR17-93|OR1E4|OR1E7|OST529 OR17-136|olfactory receptor 17-93/17-135/17-136|olfactory receptor 1E2|olfactory receptor 1E4|olfactory receptor OR17-17|olfactory receptor OR17-3|olfactory receptor, family 1, subfamily E, member 4|olfactory receptor, family 1, subfamily E, member 7 protein-coding 1351004 OR1E3 olfactory receptor, family 1, subfamily E, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12379593,10673334,8004088 8389 NG_002151,AC097370,AF087929,U04690,U53583 AAC99555,Q8WZA6,Q9UM77 OR17-210|OR1E3P pseudo 1348262 OR1F1 olfactory receptor, family 1, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9500546,15489334,14983052,12477932,12213199,9653642,9288094 4992 NM_012360,AB065907,AF399559,AJ003147,BK004247,CH471112,U86234,U86235,U86236,U86237,U86238,U86239,U86264,BC069335,Y14442 NP_036492,BAC06122,AAK95044,CAA05903,DAA04645,EAW85391,AAC39614,AAC39615,AAC39616,AAC39617,AAC39618,AAC39619,AAC39627,AAH69335,CAA74794,O43749,O43871,O43872,O43873,O43874,O43875 Hs.664502 OLFMF|OR16-36|OR16-37|OR16-88|OR16-89|OR16-90|OR1F10|OR1F13P|OR1F4|OR1F5|OR1F6|OR1F7|OR1F8|OR1F9|OR3-145|ORL1023 olfactory receptor 1F1|olfactory receptor, family 1, subfamily F, member 10|olfactory receptor, family 1, subfamily F, member 13 pseudogene|olfactory receptor, family 1, subfamily F, member 4|olfactory receptor, family 1, subfamily F, member 5|olfactory receptor, family 1, subfamily F, member 6|olfactory receptor, family 1, subfamily F, member 7|olfactory receptor, family 1, subfamily F, member 9 protein-coding 1606624 OR1F12 olfactory receptor, family 1, subfamily F, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 442179 NG_004691,AB065468,AL121944,BK004273 BAC05727,DAA04671,Q6IFI9,Q8NHA8 OR1F12P|OR1F12Q|OR6-12|hs6M1-35P pseudo 1353348 OR1F2P olfactory receptor, family 1, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,9653642,1370859 26184 NR_002169,AF091512,AF399558,AJ003147,BK004665,AJ003145,X64987 Q96R84 Hs.651203 OLFMF2|OR16-3|OR1F11|OR1F2|OR1F3P|hg91 pseudo 1321692 OR1G1 olfactory receptor, family 1, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 8004088,18603653,15489334,14983052,12477932,12379593,10673334,9500546 8390 AC097370,AF087928,BK004243,CH471108,U04689,U53583,U86240,BC069379,BC095520,NM_003555 AAF37317,DAA04641,EAW90523,AAA18352,AAC99556,AAC39620,AAH69379,AAH95520,O43876,P47890,NP_003546 Hs.248183 OR17-130|OR17-209|OR1G2 olfactory receptor 17-209|olfactory receptor 1G1|olfactory receptor 1G2|olfactory receptor OR17-8|olfactory receptor, family 1, subfamily G, member 2 protein-coding 1349478 OR1H1P olfactory receptor, family 1, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26742 NG_004138,AL162254 OR1H1|OST26 pseudo 1350140 OR1I1 olfactory receptor, family 1, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 15057824,12213199,12477932 126370 NM_001004713,AC004794,AF399548,CH471106,BC140930 NP_001004713,AAC18915,AAK95033,EAW84460,AAI40931,O60431 Hs.631610 OR19-20|OR1I1P|OR1I1Q olfactory receptor 19-20|olfactory receptor 1I1 protein-coding 1346374 OR1J1 olfactory receptor, family 1, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15164053,14983052,12213199,12477932 347168 NM_001004451,AB065716,AF399554,AL359636,BK004452,CH471090,BC136933,BC136938 NP_001004451,BAC05937,AAK95039,CAM45734,DAA04850,EAW87532,AAI36934,AAI36939,Q8NGS3 Hs.632692 OR9-18|hg32 olfactory receptor 1J1|olfactory receptor OR9-18 protein-coding 1347114 OR1J2 olfactory receptor, family 1, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10706615,14983052,14702039,12908129,12213199,1370859 26740 NM_054107,AB065717,AY283969,AY283970,AY283971,AY283972,BK004448,CH471090,CS248548,AK123016,X64989,AF179760,AF179767,AF399552,AL359636,AY283941,AY283942,AY283943,AY283944,AY283945,AY283946,AY283947,AY283948,AY283949,AY283950,AY283951,AY283952,AY283953,AY283954,AY283955,AY283956,AY283957,AY283958,AY283959,AY283960,AY283961,AY283962,AY283963,AY283964,AY283965,AY283966,AY283967,AY283968 NP_473448,AAP32506,AAP32507,AAP32508,AAP32509,AAP32510,DAA04846,EAW87531,CAJ56791,BAG53850,Q86SF3,Q86SG8,Q8NGS2,Q9NZP4,AAI40249,AAI46523,BAC05938,AAF40349,AAF40352,AAK95037,CAM45735,AAP32479,AAP32480,AAP32481,AAP32482,AAP32483,AAP32484,AAP32485,AAP32486,AAP32487,AAP32488,AAP32489,AAP32490,AAP32491,AAP32492,AAP32493,AAP32494,AAP32495,AAP32496,AAP32497,AAP32498,AAP32499,AAP32500,AAP32501,AAP32502,AAP32503,AAP32504,AAP32505 Hs.460145 FLJ16828|HG152|HSA5|OR1J3|OR1J5|OR9-19|OST044 HTPCRX15|olfactory receptor 1J2|olfactory receptor 1J3|olfactory receptor 1J5|olfactory receptor OR9-19|olfactory receptor, family 1, subfamily J, member 3|olfactory receptor, family 1, subfamily J, member 5 protein-coding 1354380 OR1J4 olfactory receptor, family 1, subfamily J, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,1370859,12477932 26219 NM_001004452,AB065718,AF399553,AL359636,BK004469,CH471090,CS248174,BC131606,X64979 NP_001004452,BAC05939,AAK95038,CAM45736,DAA04867,EAW87533,CAJ56614,AAI31607,Q8NGS1,AAI60137 Hs.632679 HSHTPCRX01|HTPCRX01|OR9-21 olfactory receptor 1J4|olfactory receptor OR9-21 protein-coding 1352434 OR1K1 olfactory receptor, family 1, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12213199,12477932,20583170 392392 NM_080859,AB065726,AF399622,AL359512,CH471090,CS248372,BC137033,BC137034 NP_543135,BAC05947,AAK95107,CAI94957,EAW87545,CAJ56706,AAI37034,AAI37035,Q8NGR3 Hs.632681 hg99 olfactory receptor 1K1 protein-coding 1352426 OR1L1 olfactory receptor, family 1, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 26737 NM_001005236,AB065491,AL162254,BK004230,CH471090 NP_001005236,BAC05743,CAI16290,DAA04628,EAW87540,Q8NH94,AAI46391,AAI53161 Hs.567736 HG23|OR1L2|OR9-27|OR9-C OTTHUMP00000022063|olfactory receptor 1L1|olfactory receptor 1L2|olfactory receptor 9-C|olfactory receptor OR9-27|olfactory receptor, family 1, subfamily L, member 2 protein-coding 1342778 OR1L3 olfactory receptor, family 1, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,15164053,14983052 26735 NM_001005234,AB065492,AL162254,BK004231,CH471090,CS248170,BC136857,BC136859 NP_001005234,BAC05744,CAI16291,DAA04629,EAW87541,CAJ56612,AAI36858,AAI36860,Q8NH93 Hs.626839 OR9-28|OR9-D olfactory receptor 1L3|olfactory receptor 9-D|olfactory receptor OR9-28 protein-coding 1352858 OR1L4 olfactory receptor, family 1, subfamily L, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 254973 NM_001005235,AB065724,AC006313,AF399562,BK004232,CH471090 NP_001005235,BAC05945,AAK95047,DAA04630,EAW87542,Q8NGR5 Hs.626838 OR1L5|OR9-29|OR9-E|OST046 olfactory receptor 1L4|olfactory receptor 1L5|olfactory receptor 9-E|olfactory receptor OR9-29|olfactory receptor, family 1, subfamily L, member 5 protein-coding 1344733 OR1L6 olfactory receptor, family 1, subfamily L, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,14983052 392390 NM_001004453,AB065727,AC006313,AF399563,BK004234,CH471090 NP_001004453,BAC05948,AAK95048,DAA04632,EAW87543,Q8NGR2 Hs.553790 HG16|OR1L7|OR9-30 OTTHUMP00000022066|olfactory receptor 1L6|olfactory receptor 1L7|olfactory receptor OR9-30|olfactory receptor, family 1, subfamily L, member 7 protein-coding 1351781 OR1L8 olfactory receptor, family 1, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 138881 AB065721,AF399564,AL359636,BK004447,CH471090,CS248176,BC140910,NM_001004454 NP_001004454,BAC05942,AAK95049,CAM45739,DAA04845,EAW87536,CAJ56615,AAI40911,Q8NGR8 Hs.632695 OR9-24 olfactory receptor 1L8|olfactory receptor OR9-24 protein-coding 1350413 OR1M1 olfactory receptor, family 1, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 125963 NM_001004456,AB065925,AC011464,AF399549,BK004269,CH471106,BC137551,BC137555 NP_001004456,BAC06140,AAK95034,DAA04667,EAW84006,AAI37552,AAI37556,Q8NGA1 Hs.553577 OR19-5|OR19-6 olfactory receptor 19-6|olfactory receptor 1M1|olfactory receptor OR19-5 protein-coding 1346076 OR1M4P olfactory receptor, family 1, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403232 NG_004407,AC016584 pseudo 1351301 OR1N1 olfactory receptor, family 1, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,9500546 138883 NM_012363,AB065719,AF399547,AL359636,BK004446,CH471090,CS248172,U86216 NP_036495,BAC05940,AAK95032,CAM45737,DAA04844,EAW87534,CAJ56613,AAC39612,Q8NGS0,AAI56679 Hs.553604 OR1-26|OR1N3|OR9-22 olfactory receptor 1-26|olfactory receptor 1N1|olfactory receptor 1N3|olfactory receptor OR9-22|olfactory receptor, family 1, subfamily N, member 3 protein-coding 1347218 OR1N2 olfactory receptor, family 1, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,12477932,20583170 138882 NM_001004457,AB065720,AF399536,AL359636,BK004445,CH471090,BC137182,BC137183 NP_001004457,BAC05941,AAK95021,CAM45738,DAA04843,EAW87535,AAI37183,AAI37184,Q8NGR9 Hs.632682 OR9-23 olfactory receptor 1N2|olfactory receptor OR9-23 protein-coding 1347497 OR1P1 olfactory receptor, family 1, subfamily P, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16625196,14983052,12730696,12213199,10673334 8391 NG_002153,AC097370,AF087927 Q8NH06 OR17-208|OR1P1P pseudo 1345044 OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,9119360,14983052,12213199 158131 NM_012364,AB065722,AF399561,AL162254,BK004228,CH471090,BC140713,X89667 NP_036496,BAC05943,AAK95046,CAI16288,DAA04626,EAW87538,AAI40714,CAA61814,Q15612 Hs.684864 HSTPCR106|OR1Q2|OR1Q3|OR9-25|OR9-A|OST226|OST226OR9-A|TPCR106 olfactory receptor 1Q1|olfactory receptor 1Q2|olfactory receptor 1Q3|olfactory receptor 9-A|olfactory receptor OR9-25|olfactory receptor TPCR106|olfactory receptor, family 1, subfamily Q, member 2|olfactory receptor, family 1, subfamily Q, member 3 protein-coding 1352741 OR1R1P olfactory receptor, family 1, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10673334 9596 NG_002302,AC087498,AF087915,U78308 OR17-01|OR17-1|OR1R2P|OR1R3P|OR20A1P pseudo 1343888 OR1S1 olfactory receptor, family 1, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 219959 NM_001004458,AB065493,AP004247,BK004299,CH471076 NP_001004458,BAC05745,DAA04697,EAW73800,Q8NH92 Hs.553645 OR11-232|OST034 olfactory receptor 1S1|olfactory receptor OR11-232 protein-coding 1344670 OR1S2 olfactory receptor, family 1, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 219958 NM_001004459,AB065736,AF399557,AP004247,BK004297,CH471076,CS248102 NP_001004459,BAC05957,AAK95042,DAA04695,EAW73799,CAJ56578,Q8NGQ3 Hs.553644 OR11-231 olfactory receptor 1S2|olfactory receptor OR11-231 protein-coding 1605486 OR1X1P olfactory receptor, family 1, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 402236 NG_004630,AC139491 pseudo 1347631 OR1X5P olfactory receptor, family 1, subfamily X, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402240 NG_004631,AC140125 pseudo 1352035 OR2A1 olfactory receptor, family 2, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,10737800 346528 NM_001005287,AC074386,AF399597,BK004217,BK004418 Q8NGT9,NP_001005287,AAK95082,DAA04615,DAA04816 Hs.528398 OR2A42 olfactory receptor 2A1/2A42|olfactory receptor OR7-16|olfactory receptor OR7-19|olfactory receptor, family 2, subfamily A, member 1 protein-coding 1346557 OR2A12 olfactory receptor, family 2, subfamily A, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12690205,12644552,12213199,12477932 346525 NM_001004135,AB065694,AC091768,AF399462,AF546378,AF546391,BK004419,CH236959,CH878732,BC136902,BC136903 NP_001004135,BAC05917,DAA04817,EAL23798,EAW55631,AAI36903,AAI36904,Q8NGT7 Hs.553708 OR2A12P|OR2A16P olfactory receptor 2A12|olfactory receptor OR7-10|olfactory receptor, family 2, subfamily A, member 12 pseudogene|olfactory receptor, family 2, subfamily A, member 16 pseudogene protein-coding 1350322 OR2A13P olfactory receptor, family 2, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 392140 NG_004375,AB065691,AC091768,CH236959 pseudo 1344604 OR2A14 olfactory receptor, family 2, subfamily A, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,12477932 135941 NM_001001659,AB065693,AC091768,AF399596,BK004421,CH236959,CH878732,BC136889 NP_001001659,BAC05916,AAK95081,DAA04819,EAL23799,EAW55633,AAI36890,Q96R47 Hs.534547 OR2A14P|OR2A6|OST182 olfactory receptor 2A14|olfactory receptor 2A6|olfactory receptor OR7-12|olfactory receptor, family 2, subfamily A, member 14 pseudogene|olfactory receptor, family 2, subfamily A, member 6 protein-coding 1346785 OR2A15P olfactory receptor, family 2, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 135942 NG_004290,AC091768,CH236959 OR2A23P|OR2A28P pseudo 1348102 OR2A2 olfactory receptor, family 2, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12853948,12213199,12477932 442361 NM_001005480,AB065695,AC091768,AF399459,BK004420,CH236959,CH878732,BC136742 NP_001005480,BAC05918,DAA04818,EAW55632,AAI36743,Q6IF42 Hs.553841 OR2A17P|OR2A2P|OR7-11|OST008 olfactory receptor 2A17|olfactory receptor 2A2|olfactory receptor OR7-11|olfactory receptor, family 2, subfamily A, member 17 pseudogene|olfactory receptor, family 2, subfamily A, member 2 pseudogene protein-coding 1601907 OR2A20P olfactory receptor, family 2, subfamily A, member 20 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 401428 NR_002158,AC004889,BK004757,AF327904,AK172840,BC016940 Hs.591830,Hs.718763 OR2A20 pseudo 1343005 OR2A25 olfactory receptor, family 2, subfamily A, member 25 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 19023099,17975119,12477932 392138 NM_001004488,AC091768,CH236959,CH878732,BC136814,BC136829 NP_001004488,EAL23797,EAW55630,AAI36815,AAI36830,A4D2G3 Hs.553787 OR2A24P|OR2A25P|OR2A27 olfactory receptor 2A25|olfactory receptor 2A27|olfactory receptor, family 2, subfamily A, member 24 pseudogene|olfactory receptor, family 2, subfamily A, member 25 pseudogene|olfactory receptor, family 2, subfamily A, member 27 protein-coding 1343745 OR2A3P olfactory receptor, family 2, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 202861 NG_004292,AB065480,AF399461,CH236959 OR2A18P pseudo 1352196 OR2A4 olfactory receptor, family 2, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,14574404,12477932,10737800 79541 BC120953,BC120954,NM_030908,AC005587,AL135904,AL157377,BK004444 DAA04842,AAI20954,AAI20955,O95047,NP_112170,AAD05193,CAB99212,CAC05481 Hs.486488 OR2A10 olfactory receptor 2A10|olfactory receptor 2A4|olfactory receptor OR6-37|olfactory receptor, family 2, subfamily A, member 10 protein-coding 1346511 OR2A41P olfactory receptor, family 2, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 403234 NG_004408,AC091768,CH236959 pseudo 1343723 OR2A42 olfactory receptor, family 2, subfamily A, member 42 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 402317 NM_001001802,AB065692,AC004889 NP_001001802,BAC05915,Q8NGT9 Hs.632027 OR2A1 olfactory receptor 2A1/2A42|olfactory receptor OR7-16|olfactory receptor OR7-19 protein-coding 1343457 OR2A5 olfactory receptor, family 2, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9500546,12477932 393046 NM_012365,AB065477,AB065610,AC091768,AF399595,CH236959,CH878732,U86278,U86281,BC136858,BC136860 NP_036497,BAC05731,BAC05837,AAK95080,EAW55629,AAC39630,AAC39633,AAI36859,AAI36861,Q8N0W0,Q96R48 Hs.553793 OR2A11P|OR2A26|OR2A8|OR7-138|OR7-141 olfactory receptor 2A26|olfactory receptor 2A5|olfactory receptor 2A8|olfactory receptor 7-138/7-141|olfactory receptor, family 2, subfamily A, member 11 pseudogene|olfactory receptor, family 2, subfamily A, member 26|olfactory receptor, family 2, subfamily A, member 8 protein-coding 1348744 OR2A7 olfactory receptor, family 2, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 401427 NM_001005328,AC004889,AF399598,BK004218,BK004610,AF327904,BC136704,BC136711 NP_001005328,AAK95083,DAA04616,AAG50283,AAI36705,AAI36712,Q96R45,Q9BZC5 Hs.718763,Hs.725740 HSDJ0798C17|OR2A21 OTTHUMP00000212566|olfactory receptor 2A7|olfactory receptor OR7-18|olfactory receptor OR7-20|olfactory receptor, family 2, subfamily A, member 21 protein-coding 1351644 OR2A9P olfactory receptor, family 2, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12644552,12477932,12213199,10737800,9847074,9500546,7566098 441295 NR_002157,AB065477,AB065610,AC074386,AF399463,AF546392,U86282,AF327904,AK172840,BC016940 Hs.591830,Hs.718763 FKSG35|HSDJ0798C17|OR2A19|OR2A22P|OR2A9 pseudo 1345178 OR2AD1P olfactory receptor, family 2, subfamily AD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79313 NG_002239,AL662791,AL662865,AL929561,Z84476,BX248413,BX927167,CR759835,CR759957,CR936923 OR2AD1|hs6M1-8P pseudo 1344866 OR2AE1 olfactory receptor, family 2, subfamily AE, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16314882,9847074,12477932 81392 NM_001005276,NG_000004,AB065478,AC011904,CH236956,CH471091,CS248242,BC137375,BC137376 NP_001005276,BAC05732,EAW76629,CAJ56646,AAI37376,AAI37377,Q8NHA4 Hs.647523 OR2AE2 olfactory receptor 2AE1|olfactory receptor 2AE2|olfactory receptor, family 2, subfamily AE, member 2 protein-coding 1348446 OR2AF1P olfactory receptor, family 2, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79331 NG_002257,AL109853 OR2AF2P pseudo 1351829 OR2AG1 olfactory receptor, family 2, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 17005854,16565291,14983052,12213199,11416212,12477932 144125 AB065823,AC087280,AF321237,AF399618,BK004295,CH471064,CS248194,BC151143,NM_001004489 NP_001004489,BAC06042,AAG45209,AAK95103,DAA04693,EAW68677,CAJ56623,AAI51144,Q9H205 Hs.553608 OR11-79|OR2AG3 hT3 olfactory receptor|olfactory receptor 2AG1|olfactory receptor 2AG3|olfactory receptor OR11-79|olfactory receptor, family 2, subfamily AG, member 3 protein-coding 1351300 OR2AG2 olfactory receptor, family 2, subfamily AG, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,12477932 338755 NM_001004490,AB065539,AC091564,AF399487,BK004747,CH471064,BC140734 NP_001004490,EAW68678,AAI40735,A6NM03 Hs.534614 OR11-76|OR2AG2P olfactory receptor 2AG2|olfactory receptor OR11-76 pseudogene|olfactory receptor, family 2, subfamily AG, member 2 pseudogene protein-coding 1350840 OR2AH1P olfactory receptor, family 2, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81336 NG_004244,AP004245 pseudo 1606720 OR2AI1P olfactory receptor, family 2, subfamily AI, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 134082 NG_004289,AC122714 pseudo 1606466 OR2AJ1 olfactory receptor, family 2, subfamily AJ, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 127608 NG_004652,AB065626,AC099571,BK004621 BAC05852,Q8NGZ0 OR2AJ1P|OR2AJ1Q pseudo 1343468 OR2AK2 olfactory receptor, family 2, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 391191 NM_001004491,AB065951,AC099570,BK004457,CH471148,BC136816 NP_001004491,BAC06164,DAA04855,EAW77212,AAI36817,Q8NG84 Hs.690413 OR1-47|OR2AK1P OTTHUMP00000038053|olfactory receptor 2AK1|olfactory receptor 2AK2|olfactory receptor OR1-47|olfactory receptor, family 2, subfamily AK, member 1 pseudogene protein-coding 1353667 OR2AL1P olfactory receptor, family 2, subfamily AL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79547 NG_002273,AC017094,AP003181 pseudo 1348816 OR2AM1P olfactory receptor, family 2, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12906860 81366 NG_004255,AL138834 OR37E pseudo 1352298 OR2AO1P olfactory receptor, family 2, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 403235 NG_004409,AC004889,CH236959 pseudo 1344568 OR2AP1 olfactory receptor, family 2, subfamily AP, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 121129 AB065868,AC009779,BK004260,NG_004283 BAC06086,DAA04658,Q8NGE2 OR2AP1P pseudo 1604780 OR2AQ1P olfactory receptor, family 2, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81474 NG_004276,AL513205 pseudo 1345677 OR2AS1P olfactory receptor, family 2, subfamily AS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81473 NG_004705,AC098483 pseudo 1344295 OR2AS2P olfactory receptor, family 2, subfamily AS, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403236 NG_004706,AC138089 pseudo 1344508 OR2AT1P olfactory receptor, family 2, subfamily AT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390225 NG_004338,AP001972 pseudo 1351251 OR2AT2P olfactory receptor, family 2, subfamily AT, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390224 NG_004337,AP003175 pseudo 1348041 OR2AT4 olfactory receptor, family 2, subfamily AT, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 341152 NM_001005285,AP003175,BK004820,BC136958,BC136959 NP_001005285,AAI36959,AAI36960,A6NND4 Hs.554515 OR11-265 olfactory receptor 2AT4|olfactory receptor OR11-265 pseudogene|olfactory receptor, family 2, subfamily AT, member 4 protein-coding 1349718 OR2B11 olfactory receptor, family 2, subfamily B, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 19098911,16710414,12477932 127623 NM_001004492,AL606804,CH471148,BC137181,BC137205 NP_001004492,CAI17145,EAW77188,AAI37182,AAI37206,Q5JQS5 Hs.446999 novel 7 transmembrane receptor (rhodopsin family) protein|olfactory receptor 2B11 protein-coding 733998 OR2B2 olfactory receptor, family 2, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932,14574404 81697 NM_033057,AJ302584,AJ302585,AJ302586,AJ302587,AJ302588,AJ302589,AJ302590,AJ302591,AJ302592,AJ302593,BK004361,CH471081,Z98744,BC136881,BC136901 NP_149046,CAC20504,CAC20505,CAC20506,CAC20507,CAC20508,CAC20509,CAC20510,CAC20511,CAC20512,CAC20513,DAA04759,EAX03125,CAD24079,AAI36882,AAI36902,Q6IFA1,Q9GZK3 Hs.307111 OR2B2Q|OR2B9|OR6-1|dJ193B12.4|hs6M1-10 olfactory receptor|olfactory receptor 2B2|olfactory receptor 2B9|olfactory receptor 6-1|olfactory receptor OR6-2|olfactory receptor, family 2, subfamily B, member 9 protein-coding 1351242 OR2B3 olfactory receptor, family 2, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 18040051,14983052,14574404,12637542,12477932,12213199,19851445 442184 NM_001005226,AF399632,AJ302537,AJ302538,AJ302539,AJ302540,AJ302541,AJ302542,AJ302543,AJ302544,AJ302545,AJ302546,AL022727,AL662791,AL662852,AL929561,BK004436,BX248093,BX248413,CH471081,CR388407,CR547123,CR933783,CR942175,AJ459873,BC136817,BC136818 NP_001005226,AAK95117,CAC20462,CAC20463,CAC20464,CAC20465,CAC20466,CAC20467,CAC20468,CAC20469,CAC20470,CAC20471,CAA18782,CAI18246,CAI17592,CAI41771,DAA04834,EAX03182,CAQ06964,CAQ08042,CAQ07978,O76000 Hs.553835 6M1-1|OR2B3P|OR6-14|OR6-4 hs6M1-1|olfactory receptor 6-4|olfactory receptor OR6-14|putative olfactory receptor 2B3 protein-coding 1348346 OR2B4P olfactory receptor, family 2, subfamily B, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 442190 NG_004686,AB065472,AF399496,AL662781,AL662857,BX005432,BX908738,CR753509,CR933842,CR936918 hs6M1-22 pseudo 1346885 OR2B6 olfactory receptor, family 2, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,14574404,12477932,9500546 26212 NM_012367,AL133267,BK004373,CH471081,CS248082,U86270,U86275,BC109251,BC110457 NP_036499,CAC14158,DAA04771,EAX03127,CAJ56568,AAC39628,AAI09252,AAI10458,P58173 Hs.532145 MGC120190|MGC129828|OR2B1|OR2B1P|OR2B5|OR2B6P|OR5-40|OR5-41|OR6-31|dJ408B20.2 hs6M1-32|olfactory receptor 2B1|olfactory receptor 2B5|olfactory receptor 2B6|olfactory receptor 5-40|olfactory receptor 6-31|olfactory receptor OR6-4|olfactory receptor, family 2, subfamily B, member 1 pseudogene|olfactory receptor, family 2, subfamily B, member 5|olfactory receptor, family 2, subfamily B, member 6 pseudogene protein-coding 1344530 OR2B7P olfactory receptor, family 2, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81695 NG_004280,AL121944 hs6M1-31P pseudo 1346989 OR2B8P olfactory receptor, family 2, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14574404 65944 NG_003194,AC025941 P59922 OR2B8|OR6-10|dJ313I6.4|hs6M1-29P pseudo 1350969 OR2BH1P olfactory receptor, family 2, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403238 NG_004410,AC027465 pseudo 1342915 OR2C1 olfactory receptor, family 2, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9847080,15489334,14983052,12477932 4993 AF098664,BK004407,BK004428,CH471112,BC069158,BC069456,BC126269,BC130328,NM_012368 NP_036500,AAC83557,DAA04805,DAA04826,EAW85373,AAH69158,AAH69456,AAI26270,AAI30329,O95371,ADR82923 Hs.258574 MGC163200|MGC95444|OLFmf3|OR2C2P olfactory receptor 2C1|olfactory receptor 2C2|olfactory receptor OR16-1|olfactory receptor OR16-2|olfactory receptor, family 2, subfamily C, member 2 pseudogene protein-coding 1346992 OR2C3 olfactory receptor, family 2, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 15489334,14983052,12477932,12213199,16710414,19684603 81472 NM_198074,AB065649,AF399495,AL606804,BK004471,BC030717 NP_932340,BAC05875,CAI17147,DAA04869,AAH30717,Q8N628,ABM86441,ABW03797 Hs.23491 OR2C4|OR2C5P|OST742 olfactory receptor 2C3|olfactory receptor 2C4|olfactory receptor 2C5|olfactory receptor OR1-30|olfactory receptor, family 2, subfamily C, member 4|olfactory receptor, family 2, subfamily C, member 5 pseudogene protein-coding 1345086 OR2D2 olfactory receptor, family 2, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,9787077,12477932 120776 NM_003700,AB065824,AC087280,AF065876,AF321237,AF399591,BK004434,CH471064,BC140729 NP_003691,BAC06043,AAC70020,AAG45204,AAK95076,DAA04832,EAW68673,AAI40730,Q9H210 Hs.690210 OR11-610|OR2D1|hg27 HB2|olfactory receptor 11-610|olfactory receptor 2D1|olfactory receptor 2D2|olfactory receptor OR11-88|olfactory receptor, family 2, subfamily D, member 1 protein-coding 1354348 OR2D3 olfactory receptor, family 2, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,12477932 120775 NM_001004684,AB065825,AC090160,AF399592,BK004294,CH471064,BC137208,BC137209 NP_001004684,BAC06044,AAK95077,DAA04692,EAW68672,AAI37209,AAI37210,Q8NGH3 Hs.446766 OR11-89 olfactory receptor 2D3|olfactory receptor OR11-89 protein-coding 1345854 OR2E1P olfactory receptor, family 2, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 26719 NG_004088,AC005678 HS29K1|HSNH0569I24|OR2E1|OR2E2|hs6M1-9|hs6M1-9p pseudo 1350512 OR2F1 olfactory receptor, family 2, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9500546,15489334,14983052,12853948,12690205,12637542,12477932,12213199,9017400 26211 NM_012369,AC004853,AF399594,BK004215,CH236959,CH878732,U56421,U86279,U86280,AJ459869,BC104975 NP_036501,AAC64376,AAK95079,DAA04613,EAL23795,EAW55625,AAB01215,AAC39631,AAC39632,AAI04976,O43886,O43887,Q13607 Hs.553595 OLF3|OR14-60|OR2F3|OR2F3P|OR2F4|OR2F5|OR7-139|OR7-140 olfactory receptor 2F1|olfactory receptor 2F3|olfactory receptor 2F4|olfactory receptor 2F5|olfactory receptor OR7-7|olfactory receptor, family 2, subfamily F, member 3|olfactory receptor, family 2, subfamily F, member 4|olfactory receptor, family 2, subfamily F, member 5|olfactory receptor-like protein OLF3 protein-coding 1349873 OR2F2 olfactory receptor, family 2, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12853948,12690205,12477932,20855565 135948 NM_001004685,AC004853,BK004214,CH236959,CH878732,BC136812,BC136813 NP_001004685,DAA04612,EAL23794,EAW55624,AAI36813,AAI36814,O95006 Hs.553596 OR7-1 olfactory receptor 2F2|olfactory receptor 7-1|olfactory receptor OR7-6 protein-coding 1353058 OR2G1P olfactory receptor, family 2, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 26717 BX248084,BX908738,CR753509,NG_004689,AL645937,AL662857,AL935156,BK004668 OR6-22|OST619|hs6M1-25 pseudo 1346302 OR2G2 olfactory receptor, family 2, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052 81470 NM_001001915,AB065621,AL606804,BK004472,CH471148 NP_001001915,BAC05847,CAI17150,DAA04870,EAW77195,Q8NGZ5 Hs.690208 OR1-32 olfactory receptor 2G2|olfactory receptor OR1-32|olfactory receptor, family 2, subfamily G, member 2 pseudogene protein-coding 1343786 OR2G3 olfactory receptor, family 2, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052,12477932 81469 NM_001001914,AB065622,AL606804,BK004417,CH471148,CS248398,BC136712,BC136713 NP_001001914,BAC05848,CAI17151,DAA04815,EAW77196,CAJ56719,AAI36713,AAI36714,Q8NGZ4 Hs.653227 OR1-33 olfactory receptor 2G3|olfactory receptor OR1-33 protein-coding 1603468 OR2G6 olfactory receptor, family 2, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,16710414 391211 NM_001013355,BX537158,CH471148,BC137245,BC137266 NP_001013373,CAH71962,EAW77231,AAI37246,AAI37267,Q5TZ20 Hs.553784 olfactory receptor 2G6 protein-coding 1353217 OR2H1 olfactory receptor, family 2, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,14574404,12637542,12477932,17207965,19851445,20466734 26716 BK004209,BX000531,BX247947,BX927133,CH471081,CR388393,CR759768,CR759956,AJ459845,AJ459846,AJ459847,AJ459849,BC036097,BC048991,AJ302609,AJ302610,AJ302611,AJ302612,AJ302613,AL035542,AL645927,AL662869,NM_030883,AC004178,AF042073,AF042074,AF042078,AF044491,AF044492,AF044493,AJ302604,AJ302605,AJ302606,AJ302607,AJ302608 Q8IU63,Q9GZK4,DAA04607,CAI18457,CAM26161,CAQ10416,EAX03195,EAX03196,CAQ10824,CAQ09888,CAQ06738,CAD31037,CAD31038,CAD31039,AAH48991,O43624,O43625,CAI17486,CAC20528,CAC20529,CAC20530,CAC20531,CAC20532,CAC20533,CAB44506,CAI18055,NP_112145,AAB97429,AAB97430,AAC00184,AAC00188,AAC00189,CAC20524,CAC20525,CAC20526,CAC20527,ADQ32472 Hs.434715,Hs.714219 6M1-16|HS6M1-16|OLFR42A-9004-14|OR2H6|OR2H8|OR6-2|dJ994E9.4 OLFR42A-9004.14/9026.2|OTTHUMP00000029056|OTTHUMP00000108529|OTTHUMP00000108872|olfactory receptor 2H1|olfactory receptor 2H6|olfactory receptor 2H8|olfactory receptor 6-2|olfactory receptor OR6-32|olfactory receptor, family 2, subfamily H, member 6|olfactory receptor, family 2, subfamily H, member 8 protein-coding 1348875 OR2H2 olfactory receptor, family 2, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 7665158,17971048,15489334,14983052,14574404,12637542,12477932,12213199,11282967,10880742,8662070,19833159,19851445 7932 AL031983,NM_007160,AB065965,AF211939,AF211940,AF211941,AF211942,AF399631,AL645936,AL662826,BK004225,BX000688,BX927223,CH471081,CR759766,CR759870,CR788300,L35475,AJ459831,AJ459832,AJ459839,BC069146,BC101683,BC112176 NP_009091,BAC06177,AAF98751,AAF98752,AAF98753,AAF98754,AAK95116,CAA21455,CAI18013,CAI17387,DAA04623,CAI18602,EAX03204,CAQ09876,AAB36567,AAH69146,AAI01684,AAI12177,O95918,ABZ92454 Hs.529493,Hs.697691 FAT11|MGC126732|MGC138381|OLFR2|OLFR42B|OR2H3|dJ271M21.2|hs6M1-12 Olfactory receptor 2|olfactory receptor 2H2|olfactory receptor 2H3|olfactory receptor OR6-36|olfactory receptor, family 2, subfamily H, member 3|olfactory receptor-like protein FAT11 protein-coding 1350767 OR2H4P olfactory receptor, family 2, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 442189 NG_004685,AB065473,AJ302634,AL022727,AL645937,AL662857,AL935156,BK004723,BX248084,BX908738,CR759834,CR933537 6M1-7P|OR2H4|OR6-21|OR6-3|dJ80I19.6|hs6M1-7 pseudo 1349294 OR2H5P olfactory receptor, family 2, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 26713 NG_002319,AB065470,AF042075,AF042076,AF042077,AL645936,AL662826,BK004545,BK004662,BX000688,BX927223,CR759766,CR759770,CR788300 AAB97431,AAB97432,AAB97433,O43626,O43627 HS271M21|OLFR42B|OR2H5|OR2H7|OR6-33|OR6-35|hs6M1-13 pseudo 1606622 OR2I1P olfactory receptor, family 2, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 442197 NG_004688,AB065686,AL645936,AL662826,BK004540,BK004661,BX000688,BX927223,CR759770,CR788300,CR942274 BAC05909,Q8NGU4 HS6M1-14|OR2I1|OR2I2|OR2I3P|OR2I4P|OR2I5P|OR2I6|OR2I7P|OR2I8P|OR2I9P|OR6-1|OR6-34 pseudo 1606623 OR2J1 olfactory receptor, family 2, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 442185 NG_004683,AJ302565,AJ302566,AJ302567,AJ302568,AJ302569,AJ302570,AL022727,AL645937,AL662852,AL929561,BK004663,BX248093,CR388415,CR547123,CR933783,CR942175 CAC20485,CAC20486,CAC20487,CAC20488,CAC20489,CAC20490,CAI18101,Q9GZK6 6M1-4P|OR2J1P|OR6-15|OR6-5|dJ80I19.2|hs6M1-4 pseudo 1353815 OR2J2 olfactory receptor, family 2, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16939646,15489334,14983052,14574404,12637542,12477932,11337468,19851445 26707 AJ302571,AJ302572,AJ302573,AJ302574,AJ302575,AJ302576,AJ302577,AJ302578,AJ302579,AJ302580,AJ302581,AJ302582,AJ302583,NM_030905,AL022727,AL645937,AL662852,AL935156,BK004438,BX248093,CH471081,AJ459862,BC069121,BC108896,BC108897,BC108898,BC108899,BU171389,BX927132,CR388415,CR759834,CR774181 NP_112167,CAC20491,CAC20492,CAC20493,CAC20494,CAC20495,CAC20496,CAC20497,CAC20498,CAC20499,CAC20500,CAC20501,CAC20502,CAC20503,CAA18784,CAI18104,CAI17596,DAA04836,CAM26135,EAX03185,AAH69121,AAI08897,AAI08898,AAI08899,AAI08900,O76002,CAQ07705 Hs.163518 MGC119134|MGC119135|MGC119136|MGC119137|OR6-19|OR6-8|OR6.3.8|ORL684|dJ80I19.4|hs6M1-6 olfactory receptor 2J2|olfactory receptor 6-8|olfactory receptor OR6-19 protein-coding 1351141 OR2J3 olfactory receptor, family 2, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16939646,14983052,14574404,12213199,11337468,12477932,19851445,20881960 442186 NM_001005216,AF399630,AJ302547,AJ302548,AJ302549,AJ302550,AJ302551,AJ302552,AJ302553,AJ302554,AJ302555,AJ302556,AJ302557,AJ302558,AL022727,AL645937,AL662852,AL929561,BK004437,BX248093,BC136973,BC136975,CR388415,CR547123,CR933783,CR942175 NP_001005216,AAK95115,CAC20472,CAC20473,CAC20474,CAC20475,CAC20476,CAC21440,CAC21441,CAC21442,CAC21443,CAC21444,CAC20477,CAC20478,CAA18783,CAI18102,CAI17594,CAI41773,DAA04835,CAM26133,AAI36974,AAI36976,O76001 Hs.553836 6M1-3|HS6M1-3|OR6-16|OR6-6|OR6.3.6|ORL671 olfactory receptor 2J3|olfactory receptor 6-6|olfactory receptor OR6-16 protein-coding 1349778 OR2J4P olfactory receptor, family 2, subfamily J, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 442188 NG_004684,AB065683,AL022727,AL645937,AL662852,AL935156,BK004756,BX248093,BX927132,CR388415,CR759834 BAC05906,Q8NGU6 OR6-20|OR6-9|dJ80I19.5|hs6M1-5 pseudo 1342486 OR2K2 olfactory receptor, family 2, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17010214,15489334,15164053,14983052,12477932,1370859 26248 NM_205859,AB065707,AL354661,BK004277,CH471105,BC111086,X64977 NP_995581,BAC05929,CAH73239,DAA04675,EAW59071,AAI11087,Q8NGT1 Hs.381312 HSHTPCRH06|HTPCRH06|MGC133152|OR2AN1P|OR2AR1P olfactory receptor 2K2|olfactory receptor OR9-17|olfactory receptor, family 2, subfamily AN, member 1 pseudogene|olfactory receptor, family 2, subfamily AR, member 1 pseudogene protein-coding 1348735 OR2L13 olfactory receptor, family 2, subfamily L, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,15489334,12477932,17207965,20379614 284521 CH471148,BC028158,NM_175911,AC099570,AC099571,AL513488 CAH70427,EAW77210,AAH28158,Q8N349,ADQ32478,NP_787107 Hs.372936 MGC40047|OR2L14 OTTHUMP00000038265|olfactory receptor 2L13|olfactory receptor 2L14|olfactory receptor, family 2, subfamily L, member 14 protein-coding 1346691 OR2L1P olfactory receptor, family 2, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1370859 26247 NR_002145,AB065442,AC099570,X64980 Hs.684887 HSHTPCRX02|HTPCRX02|OR2L1|OR2L7P pseudo 1347355 OR2L2 olfactory receptor, family 2, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,12477932,1370859 26246 NM_001004686,AB065597,AC099570,BK004752,CH471148,BC104792,BC104794,X64978 NP_001004686,BAC05825,EAW77214,AAI04793,AAI04795,Q8NH16 Hs.684888 HSHTPCRH07|HTPCRH07|OR1-48|OR2L12|OR2L4P olfactory receptor 2L12|olfactory receptor 2L2|olfactory receptor 2L4|olfactory receptor OR1-48 pseudogene|olfactory receptor, family 2, subfamily L, member 12|olfactory receptor, family 2, subfamily L, member 4 pseudogene protein-coding 1345416 OR2L3 olfactory receptor, family 2, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932 391192 NM_001004687,AB065950,AC099570,CH471148,BC137039,BC137040 NP_001004687,BAC06163,EAW77215,AAI37040,AAI37041,Q8NG85 Hs.690412 olfactory receptor 2L3 protein-coding 1346281 OR2L5 olfactory receptor, family 2, subfamily L, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81466 AC099570,BK004458,NG_004275,AB065956 DAA04856,Q8NG80,BAC06169 OR2L11|OR2L5P pseudo 1348407 OR2L6P olfactory receptor, family 2, subfamily L, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81465 NG_004274,AC099570 pseudo 1349762 OR2L8 olfactory receptor, family 2, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 391190 BC140751,CH471148,NM_001001963,AB065627,AC099571,BK004459 EAW77211,AAI40752,Q8NGY9,NP_001001963,BAC05853,DAA04857 Hs.690212 olfactory receptor 2L8|olfactory receptor OR1-46 protein-coding 1351011 OR2L9P olfactory receptor, family 2, subfamily L, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81462 NG_004273,AC099570 pseudo 1351985 OR2M1P olfactory receptor, family 2, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,11705801 388762 NR_002141,AF399615,AL592313,AF308814 Hs.528509 JCG10|OR2M1|OST037 pseudo 1351720 OR2M2 olfactory receptor, family 2, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,12213199 391194 NM_001004688,AF399616,AL592313,CH471148 NP_001004688,AAK95101,CAM45730,EAW77217,Q96R28 Hs.534728 OR2M2Q|OST423 olfactory receptor 2M2 protein-coding 1343135 OR2M3 olfactory receptor, family 2, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052,12477932,12213199 127062 NM_001004689,AB065952,AF399483,AL450303,BK004482,CH471148,CS248608,BC136970,BC136971 NP_001004689,BAC06165,CAH71662,DAA04880,EAW77218,CAJ56820,AAI36971,AAI36972,Q8NG83 Hs.553581 OR1-54|OR2M3P|OR2M6|OST003 novel 7 transmembrane receptor (rhodopsin family) protein|olfactory receptor 2M3|olfactory receptor 2M6|olfactory receptor OR1-54|olfactory receptor, family 2, subfamily M, member 3 pseudogene|olfactory receptor, family 2, subfamily M, member 6 protein-coding 1347987 OR2M4 olfactory receptor, family 2, subfamily M, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 633349 9119360,16710414,14983052,12213199,1370859 633349 26245 NM_017504,AB065953,AF399617,AL450303,BK004483,CH471148,CS248606,X64992,X89666 NP_059974,BAC06166,AAK95102,CAH71663,DAA04881,EAW77219,CAJ56819,CAA61813,Q96R27,AAI41462,AAI48719 Hs.381309 HSHTPCRX18|HTPCRX18|OR1-55|OST710|TPCR100 novel 7 transmembrane receptor (rhodopsin family) protein|olfactory receptor 2M4|olfactory receptor OR1-55|olfactory receptor TPCR100 protein-coding 1351101 OR2M5 olfactory receptor, family 2, subfamily M, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 127059 NM_001004690,AL592313,CH471148 NP_001004690,CAM45729,EAW77216,A3KFT3 Hs.553580 OR2M5P olfactory receptor 2M5|olfactory receptor, family 2, subfamily M, member 5 pseudogene protein-coding 1352477 OR2M7 olfactory receptor, family 2, subfamily M, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,16710414,14983052,20585627 391196 NM_001004691,AB065954,AL450303,BK004486,CH471148,CS248612,BC136944,BC136946 NP_001004691,BAC06167,CAH71666,DAA04884,EAW77222,CAJ56822,AAI36945,AAI36947,Q8NG81 Hs.530570 OR1-58 olfactory receptor 2M7|olfactory receptor OR1-58 protein-coding 1343159 OR2N1P olfactory receptor, family 2, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 26701 NG_002216,AJ132194,AL645937,AL662852,AL929561,BK004435,BX248093,BX927132,CR388415,CR759834,CR774181 CAA10602,DAA04833,O95499 HS6M1-2|OLFR89|OR6-7 pseudo 1344769 OR2P1P olfactory receptor, family 2, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 442183 NG_004693,AL662791,AL662852,AL929561,BX248413,CR388407,CR547123,CR933783 hs6M1-26 pseudo 1604950 OR2Q1P olfactory receptor, family 2, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9847074 346524 NG_004310,AF399458,CH236959 OR7-2 pseudo 1349463 OR2R1P olfactory receptor, family 2, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 392132 NG_004373,AB065481,AC073264,AF399457,CH236959 OR2R1|OST058 pseudo 1352301 OR2S1P olfactory receptor, family 2, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12906860 392313 NG_004379,AL138834 OR37D|OST611 pseudo 1346182 OR2S2 olfactory receptor, family 2, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 20677014,10452948,15489334,15164053,14983052,12906860,12477932,12213199 56656 NM_019897,AF399601,AL135841,BK004443,CH471071,BC104869,BC113651 NP_063950,AAK95086,CAB96728,DAA04841,EAW58320,AAI04870,AAI13652,Q9NQN1,ADR82938 Hs.553540 OR37A|OST715 olfactory receptor 2S2|olfactory receptor OR9-3 protein-coding 1353113 OR2T1 olfactory receptor, family 2, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,9500546 26696 NM_030904,AC138089,AF399613,BK004463,CH471148,U86215 NP_112166,AAK95098,DAA04861,EAW77226,AAC39611,O43869,AAI48404 Hs.626885 OR1-25 OTTHUMP00000038268|olfactory receptor 1-25|olfactory receptor 2T1|olfactory receptor OR1-61 protein-coding 1353621 OR2T10 olfactory receptor, family 2, subfamily T, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 127069 NM_001004693,AB065616,AC098483,BK004478,CH471257,BC136937,BC136940 NP_001004693,BAC05843,DAA04876,EAW57528,AAI36938,AAI36941,Q8NGZ9 Hs.553585 OR1-64 olfactory receptor 2T10|olfactory receptor OR1-64 protein-coding 1349543 OR2T11 olfactory receptor, family 2, subfamily T, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 127077 NM_001001964,AB065614,AC098483,BK004476,CH471257,BC140749 NP_001001964,BAC05841,DAA04874,EAW57529,AAI40750,Q8NH01 Hs.626619 OR2T11Q olfactory receptor 2T11|olfactory receptor OR1-65 protein-coding 1350170 OR2T12 olfactory receptor, family 2, subfamily T, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052 127064 NM_001004692,AB065960,AL450303,BK004485,CH471148,CS248610 NP_001004692,BAC06172,CAH71665,DAA04883,EAW77221,CAJ56821,Q8NG77 Hs.553582 OR1-57 novel 7 transmembrane receptor (rhodopsin family) protein|olfactory receptor 2T12|olfactory receptor OR1-57 protein-coding 1346426 OR2T2 olfactory receptor, family 2, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,14983052,12213199,12477932 401992 NM_001004136,AC138089,AF399479,BK004462,CS248406,BC136961,BC136962 NP_001004136,DAA04860,CAJ56723,AAI36962,AAI36963,Q6IF00 Hs.554482 OR1-43|OR2T2P olfactory receptor 2T2|olfactory receptor OR1-43|olfactory receptor, family 2, subfamily T, member 2 pseudogene protein-coding 1350912 OR2T27 olfactory receptor, family 2, subfamily T, member 27 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 403239 NM_001001824,AB065611,AC098483,BK004474 NP_001001824,BAC05838,DAA04872,Q8NH04 Hs.553814 olfactory receptor 2T27|olfactory receptor OR1-67 protein-coding 1342637 OR2T29 olfactory receptor, family 2, subfamily T, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 343563 NM_001004694,AB065613,AC098483 NP_001004694,BAC05840,Q8NH02 Hs.553707 olfactory receptor 2T29 protein-coding 1349827 OR2T3 olfactory receptor, family 2, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,12477932 343173 NM_001005495,AB065612,AC138089,BC136915,BC136916 NP_001005495,BAC05839,AAI36916,AAI36917,Q8NH03 Hs.554481 olfactory receptor 2T3|seven transmembrane helix receptor protein-coding 1349717 OR2T32P olfactory receptor, family 2, subfamily T, member 32 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403241 NG_004411,AL513488 pseudo 1343251 OR2T33 olfactory receptor, family 2, subfamily T, member 33 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,16710414,14983052 391195 NM_001004695,AB065961,AL450303,BK004484,CH471148,CS248614,BC136994,BC136995 NP_001004695,BAC06173,CAH71664,DAA04882,EAW77220,CAJ56823,AAI36995,AAI36996,Q8NG76 Hs.553783 OR1-56 novel 7 transmembrane receptor (rhodopsin family) protein|olfactory receptor 2T33|olfactory receptor OR1-56 protein-coding 1345089 OR2T34 olfactory receptor, family 2, subfamily T, member 34 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052,12213199,12477932 127068 BK004477,NM_001001821,AB065645,AC098483,AF399612,BC136924,BC136926 NP_001001821,BAC05871,AAK95097,DAA04875,AAI36925,AAI36927,Q8NGX1 Hs.553584 olfactory receptor 2T34|olfactory receptor OR1-63 protein-coding 1354420 OR2T35 olfactory receptor, family 2, subfamily T, member 35 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 403244 NM_001001827,AB065644,AC098483,BK004475 NP_001001827,BAC05870,DAA04873,Q8NGX2,AAI56816 Hs.534846 olfactory receptor 2T35|olfactory receptor OR1-66 protein-coding 1351833 OR2T4 olfactory receptor, family 2, subfamily T, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 127074 NM_001004696,AB065615,AC138089,BK004464,CH471148 NP_001004696,BAC05842,DAA04862,EAW77224,Q8NH00 Hs.553586 OR1-60|OR2T4Q OTTHUMP00000038271|olfactory receptor 2T4|olfactory receptor OR1-60 protein-coding 1351819 OR2T5 olfactory receptor, family 2, subfamily T, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,14983052,12477932 401993 NM_001004697,AC138089,BK004465,CS248408,BC140747,BC140915 NP_001004697,DAA04863,CAJ56724,AAI40748,AAI40916,Q6IEZ7 Hs.553808 OR1-62 olfactory receptor 2T5|olfactory receptor OR1-62 protein-coding 1343167 OR2T6 olfactory receptor, family 2, subfamily T, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 254879 NM_001005471,AB065438,AC138089,AF399481,CH471148 NP_001005471,BAC05705,EAW77225,Q8NHC8 Hs.626884 OR2T6P|OR2T9|OST703 olfactory receptor 2T6|olfactory receptor 2T9|olfactory receptor, family 2, subfamily T, member 6 pseudogene|seven transmembrane helix receptor protein-coding 1347656 OR2T7 olfactory receptor, family 2, subfamily T, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,14983052,12213199 81458 NG_004272,AC138089 P0C7T2 OR2T7P|OST723 pseudo 1351258 OR2T8 olfactory receptor, family 2, subfamily T, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 343172 NM_001005522,AC099570,AC099571,AF399488,CH471148 NP_001005522,EAW77208,A6NH00 Hs.521114 OR2T8P olfactory receptor 2T8|olfactory receptor, family 2, subfamily T, member 8 pseudogene protein-coding 1348617 OR2U1P olfactory receptor, family 2, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 26695 BX005432,BX908738,CR753509,NG_004625,AB065682,AL050339,AL662857,AL672167,BK004667 BAC05905,Q8NGU7 OR2AU1P|hs6M1-24 pseudo 1350632 OR2U2P olfactory receptor, family 2, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 26694 BX005432,BX908738,CR753509,CR936918,NG_004687,AL662857,AL672167,BK004666 OR6-24|hs6M1-23 pseudo 1605397 OR2V1 olfactory receptor, family 2, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26693 NG_004137,AB065465,AC008620 BAC05724,Q8NHB1 OR2V1P|OST265 pseudo 1342510 OR2V2 olfactory receptor, family 2, subfamily V, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 285659 NM_206880,AB065675,AF399614,BK004246,CH471165,CS248284 NP_996763,BAC05900,AAK95099,DAA04644,EAW53721,CAJ56665,Q96R30 Hs.553681 OR2V3|OST713 olfactory receptor 2V2|olfactory receptor 2V3|olfactory receptor OR5-3|olfactory receptor, family 2, subfamily V, member 3 protein-coding 1348465 OR2W1 olfactory receptor, family 2, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,14574404,12477932,12213199,19851445 26692 AF399628,AJ302594,AJ302595,AJ302596,AJ302597,AJ302598,AJ302599,AJ302600,AJ302601,AJ302602,AJ302603,AL035402,AL662791,AL662865,AL929561,BK004522,BX248413,BX927167,CH471081,CR759835,CR759957,CR936923,BC103870,NM_030903,BC103871,BC103872 NP_112165,AAK95113,CAC20514,CAC20515,CAC20516,CAC20517,CAC20518,CAC20519,CAC20520,CAC20521,CAC20522,CAC20523,CAB42853,CAI18243,CAI41643,CAI41768,DAA04920,CAM26052,CAQ07643,EAX03179,EAX03180,EAX03181,CAQ08425,CAQ07349,CAQ07834,AAI03871,AAI03872,AAI03873,Q9Y3N9 Hs.553526 MGC119162|MGC119163|MGC119165|hs6M1-15 olfactory receptor 2W1|olfactory receptor OR6-13 protein-coding 1351010 OR2W2P olfactory receptor, family 2, subfamily W, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81694 NG_004279,AL121944 hs6M1-30P pseudo 1343372 OR2W3 olfactory receptor, family 2, subfamily W, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,8889549,12477932 343171 NM_001001957,AB065949,AC099571,AF399491,BK004456,CH471148,BC146848 NP_001001957,BAC06162,DAA04854,EAW77207,AAI46849,Q7Z3T1,ACE87282,ACE86601 Hs.269151 OR2W3P|OR2W8P|OST718 olfactory receptor 2W3|olfactory receptor 2W8|olfactory receptor OR1-49|olfactory receptor, family 2, subfamily W, member 3 pseudogene|olfactory receptor, family 2, subfamily W, member 8 pseudogene protein-coding 1343741 OR2W4P olfactory receptor, family 2, subfamily W, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81407 AL133267,NG_004261 pseudo 1351652 OR2W5 olfactory receptor, family 2, subfamily W, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,15489334,12213199,12477932 441932 NM_001004698,AF399492,AL606804,BC137203,BC137204,AA568210 NP_001004698,AAI37204,AAI37205,A6NFC9 Hs.591526 OR2W5P|OST722 olfactory receptor 2W5|olfactory receptor, family 2, subfamily W, member 5 pseudogene|putative olfactory receptor 2W5 protein-coding 1349332 OR2W6P olfactory receptor, family 2, subfamily W, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81406 NG_004260,AB065475,AL133267,CH471081 BAC05729,EAX03126,Q8NHA6 OR2W7P pseudo 1347514 OR2X1P olfactory receptor, family 2, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403245 NG_004412,AC099571 pseudo 1606719 OR2Y1 olfactory receptor, family 2, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,12477932 134083 NM_001001657,AB065676,AC023255,AC113427,AF399629,BK004351,CH471165,BC140756 NP_001001657,BAC05901,AAK95114,DAA04749,EAW53748,AAI40757,Q8NGV0 Hs.554719 OR5-2 olfactory receptor 2Y1|olfactory receptor OR5-2 protein-coding 1347587 OR2Z1 olfactory receptor, family 2, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 18391951,14983052,12213199,12477932 284383 NM_001004699,AB065930,AC012616,AF399619,BK004262,CH471139,CS248148,BC137046,BC151149 NP_001004699,BAC06145,AAK95104,DAA04660,EAW68902,CAJ56601,AAI37047,AAI51150,Q8NG97 Hs.553675 OR19-4|OR2Z2 olfactory receptor 2Z1|olfactory receptor 2Z2|olfactory receptor OR19-4|olfactory receptor, family 2, subfamily Z, member 2 protein-coding 1347194 OR3A1 olfactory receptor, family 3, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 8647456,8921386,17579849,16980412,15489334,14983052,12477932,10673334,8004088 4994 NM_002550,AC087498,AF087924,BK004238,CH471108,U04683,U04684,X80391,BC069414,BC096187,BC096188,BC096189,BC096190 NP_002541,AAF37314,DAA04636,EAW90518,AAA18347,AAA18348,CAA56602,AAH69414,AAH96187,AAH96188,AAH96189,AAH96190,P47881 Hs.647410 OLFRA03|OR17-40|OR17-82|OR40 olfactory receptor 17-40|olfactory receptor 3A1|olfactory receptor OR17-15 protein-coding 1350655 OR3A2 olfactory receptor, family 3, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 8921386,14983052,12477932,10673334,9500546,8004088 4995 NM_002551,AC087498,AF087930,BK004239,CH471108,U04713,U86244,BC095517 NP_002542,AAF37318,DAA04637,EAW90516,AAA17448,AAC39624,AAH95517,O43879,P47893 Hs.647414 OLFRA04|OR17-14|OR17-228|OR228 olfactory receptor 17-228|olfactory receptor 3A2|olfactory receptor OR17-14 protein-coding 1352676 OR3A3 olfactory receptor, family 3, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 8004088,16625196,14983052,12644552,12477932,12213199,10673334,9500546,20379614 8392 NM_012373,AF087926,AF095725,AF399620,BK004236,CH471108,U04688,U76377,U78308,U86243,U86245,BC069415,BC108921 NP_036505,AAF37316,AAF03262,AAK95105,DAA04634,EAW90514,AAA18351,AAD00250,AAD00277,AAC39623,AAC39625,AAH69415,AAI08922,O43878,O43880,P47888 Hs.532689 OR17-137|OR17-16|OR17-201|OR3A6|OR3A7|OR3A8P olfactory receptor 17-201|olfactory receptor 3A3|olfactory receptor 3A6|olfactory receptor 3A7|olfactory receptor 3A8|olfactory receptor OR17-22|olfactory receptor, family 3, subfamily A, member 6|olfactory receptor, family 3, subfamily A, member 7|olfactory receptor, family 3, subfamily A, member 8 pseudogene protein-coding 1349592 OR3A4 olfactory receptor, family 3, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is transcribed and contains an intact ORF, but it is predicted to be a pseudogene due to a poorly conserved 7-transmembrane domain structure. [provided by RefSeq] 8004088,16939646,14983052,12477932,12213199,10673334,8921386 390756 NR_024128,AC002085,AC007194,AC023106,AC087498,AF087920,AF087921,AF399621,BK004695,BK004725,CH471108,U04680,U58675,BC136874,BC136875 AAK95106,EAW90517,AAA18344 Hs.632245 OLFRA05|OLFRA06|OR17-13|OR17-16|OR17-24|OR17-25|OR24|OR25|OR3A4P|OR3A5P pseudo 1352129 OR3B1P olfactory receptor, family 3, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11709543,11410370 392561 NG_004382,AF277315 pseudo 1604133 OR3D1P olfactory receptor, family 3, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 504175 NG_004862,AL390860 pseudo 1347633 OR4A10P olfactory receptor, family 4, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390138 NG_004334,AP005639 OR4A25P pseudo 1606645 OR4A11P olfactory receptor, family 4, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390136 NG_004332,AP005639 pseudo 1343682 OR4A12P olfactory receptor, family 4, subfamily A, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81331 NG_004243,AP005639 pseudo 1349174 OR4A13P olfactory receptor, family 4, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81330 NG_004242,AB065596,AP005639 BAC05824,Q8NH17 pseudo 1343479 OR4A14P olfactory receptor, family 4, subfamily A, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81329 NG_004241,AP005639 pseudo 1348504 OR4A15 olfactory receptor, family 4, subfamily A, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 81328 NM_001005275,AB065776,AF399578,AP005639,BK004248,CH471076 NP_001005275,BAC05996,AAK95063,DAA04646,EAW73673,Q8NGL6 Hs.554529 OR11-118 olfactory receptor 4A15|olfactory receptor OR11-118 protein-coding 1344335 OR4A16 olfactory receptor, family 4, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 81327 NM_001005274,AB065519,AP005639,BK004249,CH471076,BC140748 NP_001005274,BAC05767,DAA04647,EAW73672,AAI40749,Q8NH70 Hs.554530 OR11-117|OR4A16Q olfactory receptor 4A16|olfactory receptor OR11-117 protein-coding 1348174 OR4A17P olfactory receptor, family 4, subfamily A, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390139 NG_004335,AP005639 OR4A22P pseudo 1348979 OR4A18P olfactory receptor, family 4, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81325 AC110057,AP006587,NG_004240 pseudo 1347184 OR4A19P olfactory receptor, family 4, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81324 NG_004239,AC110057,AP006587 pseudo 1352559 OR4A1P olfactory receptor, family 4, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9787077 8596 NG_002173,AF065869,AP006587,U73642 OR11-30|OR4A20P pseudo 1342703 OR4A21P olfactory receptor, family 4, subfamily A, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81322 NG_004238,AP001998 pseudo 1352952 OR4A2P olfactory receptor, family 4, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390133 NG_004330,AC126345 pseudo 1343490 OR4A3P olfactory receptor, family 4, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81320 NG_004237,AC126345 pseudo 1351538 OR4A40P olfactory receptor, family 4, subfamily A, member 40 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390116 NG_004327,AC134982 pseudo 1353965 OR4A41P olfactory receptor, family 4, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403247 NG_004413,AC134982 pseudo 1351624 OR4A42P olfactory receptor, family 4, subfamily A, member 42 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403248 NG_004414,AC134982 pseudo 1353670 OR4A43P olfactory receptor, family 4, subfamily A, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390117 NG_004328,AC134982 pseudo 1342603 OR4A44P olfactory receptor, family 4, subfamily A, member 44 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403250 NG_004415,AC134982 pseudo 1353185 OR4A45P olfactory receptor, family 4, subfamily A, member 45 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403251 NG_004416,AC134982 pseudo 1352595 OR4A46P olfactory receptor, family 4, subfamily A, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 19060911 403252 NG_004417,AC134982 pseudo 1351568 OR4A47 olfactory receptor, family 4, subfamily A, member 47 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16554811,14983052,12213199,12477932 403253 NM_001005512,AC134982,BK004380,BC140738 NP_001005512,DAA04778,AAI40739,Q6IF82 Hs.554532 OR11-113 olfactory receptor 4A47|olfactory receptor OR11-113 protein-coding 1348461 OR4A48P olfactory receptor, family 4, subfamily A, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403254 NG_004418,AC134982 pseudo 1354456 OR4A49P olfactory receptor, family 4, subfamily A, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403255 NG_004419,AC110057,AP006587 pseudo 1342615 OR4A4P olfactory receptor, family 4, subfamily A, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 390134 NG_004331,AB065752,AC126345,BK004379,CS248434 BAC05972,DAA04777,CAJ56737,Q8NGN8 OR4A4 pseudo 1343611 OR4A5 olfactory receptor, family 4, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16554811,14983052,12477932 81318 NM_001005272,AB065506,AC087377,BK004378,CH471076,CS248436,BC140750 NP_001005272,BAC05754,DAA04776,EAW73669,CAJ56738,AAI40751,Q8NH83 Hs.554531 OR11-111 olfactory receptor 4A5|olfactory receptor OR11-111|seven transmembrane helix receptor protein-coding 1345225 OR4A50P olfactory receptor, family 4, subfamily A, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403256 NG_004420,AP005639 pseudo 1353001 OR4A6P olfactory receptor, family 4, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390131 NG_004329,AC087377 pseudo 1348023 OR4A7P olfactory receptor, family 4, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81316 NG_004236,AC087377 pseudo 1349506 OR4A8P olfactory receptor, family 4, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16554811,14983052,12730696,12644552 81315 NG_004235,AC087377 P0C604 OR4A8 pseudo 1350231 OR4A9P olfactory receptor, family 4, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390137 NG_004333,AP005639 pseudo 1352354 OR4B1 olfactory receptor, family 4, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 119765 AF399579,BK004387,CH471064,CS248254,NM_001005470,AB065848,AC026975 AAK95064,DAA04785,EAW67872,CAJ56651,Q8NGF8,NP_001005470,BAC06066 Hs.553566 OR11-106|OST208 olfactory receptor 4B1|olfactory receptor OR11-106 protein-coding 1350665 OR4B2P olfactory receptor, family 4, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26690 NG_004136,AC026975 hg449 pseudo 1350510 OR4C10P olfactory receptor, family 4, subfamily C, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79526 NG_002264,AC023080,AP002509 pseudo 1354381 OR4C11 olfactory receptor, family 4, subfamily C, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 219429 NM_001004700,AB065774,AP006437,BK004503,CH471076,BC140727 NP_001004700,BAC05994,DAA04901,EAW73676,AAI40728,Q6IEV9 Hs.553620 OR11-136|OR4C11P olfactory receptor 4C11|olfactory receptor OR11-136|olfactory receptor, family 4, subfamily C, member 11 pseudogene protein-coding 1350996 OR4C12 olfactory receptor, family 4, subfamily C, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 283093 NM_001005270,AB065505,AC110057,AF399576,AP006622,BK004413,CH471064,BC136850,BC136851 NP_001005270,BAC05753,AAK95061,DAA04811,EAW67852,AAI36851,AAI36852,Q8NH84,Q96R67 Hs.553669 OR11-259 olfactory receptor 4C12|olfactory receptor OR11-259|seven transmembrane helix receptor protein-coding 1342612 OR4C13 olfactory receptor, family 4, subfamily C, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,14983052,12213199 283092 BK004414,CH471064,BC137005,NM_001001955,AB065750,AC110057,AF399575,AP006587 DAA04812,EAW67853,AAI37006,Q8NGP0,NP_001001955,BAC05970,AAK95060 Hs.553668 olfactory receptor 4C13|olfactory receptor OR11-260 protein-coding 1350316 OR4C14P olfactory receptor, family 4, subfamily C, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81310 NG_004234,AP001998 pseudo 1352775 OR4C15 olfactory receptor, family 4, subfamily C, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81309 NM_001001920,AB065771,AP001998,BK004319,BK004320,CH471076 NP_001001920,BAC05991,DAA04717,DAA04718,EAW73674,Q8NGM1 Hs.589003 OR11-127|OR11-134 olfactory receptor 4C15|olfactory receptor OR11-127|olfactory receptor OR11-134 protein-coding 1349325 OR4C16 olfactory receptor, family 4, subfamily C, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16554811,14983052 219428 NM_001004701,AB065773,AP001998,BK004504,CH471076,CS248152 NP_001004701,BAC05993,DAA04902,EAW73675,CAJ56603,Q8NGL9 Hs.553619 OR11-135 olfactory receptor 4C16|olfactory receptor OR11-135 protein-coding 1345209 OR4C17P olfactory receptor, family 4, subfamily C, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 406873 NG_004441,AC023080 OR4C17|OR4C47P pseudo 1347275 OR4C1P olfactory receptor, family 4, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1370859 26242 NG_002184,AC021304,X64985 Hs.550274 HSHTPCRX11|HTPCRX11|OR4C1 pseudo 1353535 OR4C2P olfactory receptor, family 4, subfamily C, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 119750 NG_002250,AB065547,AB065568,AC023080,BK004694,BK004807 OR4C8P pseudo 1342934 OR4C3 olfactory receptor, family 4, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 256144 NM_001004702,AB065567,AC023080,BK004349,CH471064,BC136853,BC136854 NP_001004702,BAC05803,DAA04747,EAW67868,AAI36854,AAI36855,Q8NH37 Hs.553656 OR11-98 olfactory receptor 4C3|olfactory receptor OR11-98 protein-coding 1346442 OR4C45 olfactory receptor, family 4, subfamily C, member 45 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403257 NM_001005513,AC023080,AC110057 NP_001005513,A6NMZ5,AAI52968,AAI56622 Hs.554533 olfactory receptor 4C45 protein-coding 1343294 OR4C46 olfactory receptor, family 4, subfamily C, member 46 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 119749 NM_001004703,AC126345 NP_001004703,A6NHA9 Hs.553564 olfactory receptor 4C46 protein-coding 1349390 OR4C48P olfactory receptor, family 4, subfamily C, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403259 NG_004421,AC110057 pseudo 1351373 OR4C49P olfactory receptor, family 4, subfamily C, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403260 NG_004422,AC110057 pseudo 1353434 OR4C4P olfactory receptor, family 4, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79550 NG_002275,AC023080,NG_004441,BK004583 OR4C17|OR4C17P|OR4C47P pseudo 1353934 OR4C5 olfactory receptor, family 4, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79346 NG_002247,AC023080 Q8NGB2 OR4C5P|OR4C5Q pseudo 1348715 OR4C50P olfactory receptor, family 4, subfamily C, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 256190 NG_004295,AC126345 pseudo 1345291 OR4C6 olfactory receptor, family 4, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 219432 NM_001004704,AB065517,AC022289,AP006437,BK004330,CH471076,CS248114,BC137216,BC137218,CR593785 NP_001004704,BAC05765,DAA04728,EAW73679,CAJ56584,AAI37217,AAI37219,Q8NH72 Hs.511921 OR11-138 olfactory receptor 4C6|olfactory receptor OR11-138 protein-coding 1353782 OR4C7P olfactory receptor, family 4, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79294 NG_002229,AC126345,AP002491 pseudo 1350174 OR4C9P olfactory receptor, family 4, subfamily C, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79530 NG_002267,AC134982,AP002509 pseudo 1346867 OR4D1 olfactory receptor, family 4, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 633349,1580863 9119360,14983052,12213199,12477932,20379614 633349 26689 NM_012374,AB065489,AB065913,AC005962,AF399567,BK004544,CH471109,BC136589,BC136595,X89670 NP_036506,BAC05741,BAC06128,AAK95052,EAW94482,AAI36590,AAI36596,CAA61817,Q15615,Q8NH96 Hs.531188 OR17-23|OR4D3|OR4D4P|TPCR16 olfactory receptor 4D1|olfactory receptor 4D3|olfactory receptor OR17-23 pseudogene|olfactory receptor TPCR16|olfactory receptor, family 4, subfamily D, member 3|olfactory receptor, family 4, subfamily D, member 4 pseudogene|seven transmembrane helix receptor protein-coding 1348576 OR4D10 olfactory receptor, family 4, subfamily D, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12644552,12213199,12477932 390197 CH471076,CS248280,BC136893,BC136894,NM_001004705,AB065808,AB065809,AF399442,AF546476,AP003778,BK004311 EAW73846,CAJ56663,AAI36894,AAI36895,Q8NGI5,Q8NGI6,NP_001004705,BAC06027,BAC06028,DAA04709 Hs.553756 OR11-251|OR4D10P|OST711 olfactory receptor 4D10|olfactory receptor OR11-251|olfactory receptor, family 4, subfamily D, member 10 pseudogene|seven transmembrane helix receptor protein-coding 1351925 OR4D11 olfactory receptor, family 4, subfamily D, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 219986 NM_001004706,AB065810,AF399440,AP003778,BK004688,CH471076 NP_001004706,BAC06029,EAW73847,Q8NGI4 Hs.553651 OR4D11P olfactory receptor 4D11|olfactory receptor OR11-252 pseudogene|olfactory receptor, family 4, subfamily D, member 11 pseudogene protein-coding 1349155 OR4D12P olfactory receptor, family 4, subfamily D, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 282754 NG_004296,AC011744 OR7E103P pseudo 1344303 OR4D2 olfactory receptor, family 4, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16625196,14983052,12213199 124538 NM_001004707,AB065912,AC005962,AF399568,BK004224,CH471109,AF303373 NP_001004707,BAC06127,AAK95053,DAA04622,EAW94481,AAL26785,AAI41569,AAI46584,P58180 Hs.446879 BC2009|OR17-24 B-lymphocyte membrane protein BC2009|G-protein coupled membrane protein|olfactory receptor 4D2|olfactory receptor OR17-24 protein-coding 1343066 OR4D5 olfactory receptor, family 4, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 219875 NM_001001965,AB065760,AP002407,BK004316,CH471065,CS248096,BC136943,BC136945 NP_001001965,BAC05980,DAA04714,EAW67561,CAJ56575,AAI36944,AAI36946,Q8NGN0 Hs.553639 OR11-276 olfactory receptor 4D5|olfactory receptor OR11-276 protein-coding 1345921 OR4D6 olfactory receptor, family 4, subfamily D, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219983 NM_001004708,AB065803,AF399569,AP003778,BK004307,CH471076,CS248282,BC137028,BC137029 NP_001004708,BAC06022,AAK95054,DAA04705,EAW73845,CAJ56664,AAI37029,AAI37030,Q8NGJ1 Hs.553650 OR11-250 olfactory receptor 4D6|olfactory receptor OR11-250 protein-coding 1344452 OR4D7P olfactory receptor, family 4, subfamily D, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81304 NG_004233,AP003778 OST724 pseudo 1350642 OR4D8P olfactory receptor, family 4, subfamily D, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 401696 NG_004232,AB065809,AF399441,AP003778,BK004568 pseudo 1606644 OR4D9 olfactory receptor, family 4, subfamily D, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16554811,14983052 390199 NM_001004711,AB065861,AP003778,BK004309,CH471076 NP_001004711,BAC06079,DAA04707,EAW73848,Q8NGE8 Hs.553757 OR11-253 olfactory receptor 4D9|olfactory receptor OR11-253|olfactory receptor, family 4, subfamily D, member 9 pseudogene protein-coding 1344385 OR4E1P olfactory receptor, family 4, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,14983052,17973576,9110172,8188290 26687 AB065562,AF399450,BK004671,NG_001332,AE000658 P0C645 OR4E1P pseudo 1352705 OR4E2 olfactory receptor, family 4, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,9110172,8188290 26686 NM_001001912,NG_001332,AB065895,AE000658,AF399581,BK004526,CH471078,AY726598 NP_001001912,BAC06111,AAK95066,DAA04924,EAW66372,Q8NGC2,AAI46415,AAI48854 Hs.547982 OR14-42 olfactory receptor 4E2|olfactory receptor OR14-42 protein-coding 1343961 OR4F13P olfactory receptor, family 4, subfamily F, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390651 NG_004357,AB065564,AC107977 pseudo 1605190 OR4F14P olfactory receptor, family 4, subfamily F, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390650 NG_004356,AB065901,AC107977 BAC06117 OR4F14 pseudo 1351117 OR4F15 olfactory receptor, family 4, subfamily F, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12908129,12213199,12477932 390649 AY284024,AB065900,AC107977,AF399573,AY284005,AY284006,AY284007,AY284008,AY284009,AY284010,AY284011,AY284012,AY284013,AY284014,AY284015,AY284016,AY284017,AY284018,AY284019,AY284020,AY284021,AY284022,AY284023,NM_001001674,AY284025,AY284026,AY284027,AY284028,AY284029,AY284030,AY284031,AY284032,AY284033,AY284034,AY284035,AY284036,BK004405,CH471101,BC137064,BC137065 NP_001001674,BAC06116,AAK95058,AAP32511,AAP32512,AAP32513,AAP32514,AAP32515,AAP32516,AAP32517,AAP32518,AAP32519,AAP32520,AAP32521,AAP32522,AAP32523,AAP32524,AAP32525,AAP32526,AAP32527,AAP32528,AAP32529,AAP32530,AAP32531,AAP32532,AAP32533,AAP32534,AAP32535,AAP32536,AAP32537,AAP32538,AAP32539,AAP32540,AAP32541,AAP32542,DAA04803,EAX02320,AAI37065,AAI37066,Q86SF1,Q86SF4,Q86SI3,Q8NGB8 Hs.554589 olfactory receptor 4F15|olfactory receptor OR15-14 protein-coding 1349131 OR4F16 olfactory receptor, family 4, subfamily F, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,16421571,14983052 81399 BC137568,NM_001005277,AC114498,BK004481,BC137547 AAI37569,Q6IEY1,NP_001005277,DAA04879,AAI37548 Hs.632360,Hs.722724 OR1-1|OR4F29|OR4F3|OR7-21 H_DJ0855D21.1|WUGSC:H_DJ0855D21.1|olfactory receptor 4F3/4F16/4F29|olfactory receptor OR1-1|olfactory receptor OR4F16|olfactory receptor OR7-21 protein-coding 1345738 OR4F17 olfactory receptor, family 4, subfamily F, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 11689484,11689483,9384599,12477932 81099 AB065917,AC008977,AY972818,BC136848,BC136867,NM_001005240 Q8NGA8,NP_001005240,BAC06132,AAX86698,AAI36849,AAI36868,Q52R93 Hs.572591 OR4F11P|OR4F18|OR4F19 olfactory receptor 4F11|olfactory receptor 4F17|olfactory receptor 4F18|olfactory receptor 4F19|olfactory receptor, family 4, subfamily F, member 11 pseudogene|olfactory receptor, family 4, subfamily F, member 19 protein-coding 1347170 OR4F1P olfactory receptor, family 4, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 26685 NG_004134,AL353654 HSDJ0609N19|OR4F1 pseudo 1354367 OR4F21 olfactory receptor, family 4, subfamily F, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 441308 NM_001005504,AC004908,AC131281 NP_001005504,AAD05195,O95013 Hs.690459 OR4F21P olfactory receptor 4F21|olfactory receptor, family 4, subfamily F, member 21 pseudogene protein-coding 1348924 OR4F28P olfactory receptor, family 4, subfamily F, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390652 NG_004358,AC107977 pseudo 1344305 OR4F29 olfactory receptor, family 4, subfamily F, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,16421571,14983052 729759 NM_001005221,AL732372,BC137547,BC137568 NP_001005221,CAI22294,AAI37548,AAI37569,Q6IEY1,Q8NGN9 Hs.722724 OR4F16|OR4F3|OR7-21 H_DJ0855D21.1|olfactory receptor 4F3/4F16/4F29|olfactory receptor OR1-1|olfactory receptor OR7-21|seven transmembrane helix receptor protein-coding 1354132 OR4F2P olfactory receptor, family 4, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390028 NG_004259,AC069287 HS191N21|OR4F2|S191N21|hs6M1-11 pseudo 1353024 OR4F3 olfactory receptor, family 4, subfamily F, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 26683 NM_001005224,AC138030,AC139237,BK004219,BC137547,BC137568 NP_001005224,DAA04617,AAI37548,AAI37569,Q6IEY1,Q6IFP3 Hs.722724 OR4F16|OR4F29 olfactory receptor 4F3/4F16/4F29|olfactory receptor OR1-1|olfactory receptor OR7-21 protein-coding 1350427 OR4F4 olfactory receptor, family 4, subfamily F, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,11689484,11689483,9384599,12477932 26682 NM_001004195,AC140725,AF270636,AF399574,BK004223,AY972817,AY972819,BC136907,BC136908 NP_001004195,AAK95059,DAA04621,AAX86697,AAX86699,AAI36908,AAI36909,Q52R92,Q52R94,Q96R69 Hs.554420 OLA-7501|OR4F18 HS14a-1-A|OR4F17|olfactory receptor 4F4|olfactory receptor OR19-3|olfactory receptor, family 4, subfamily F, member 18 protein-coding 1346395 OR4F5 olfactory receptor, family 4, subfamily F, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414 79501 NM_001005484,AB065592,AL627309 NP_001005484,BAC05820,CAH72838,Q8NH21 Hs.554500 olfactory receptor 4F5 protein-coding 1343983 OR4F6 olfactory receptor, family 4, subfamily F, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,10358071,10488142,12477932,12507995 390648 NM_001005326,AB065899,AC107977,BK004367,CH471101,CS248262,BC137002,BC137003 NP_001005326,BAC06115,DAA04765,EAX02319,CAJ56655,AAI37003,AAI37004,Q8NGB9 Hs.553399 OR15-15|OR4F12 olfactory receptor 4F12|olfactory receptor 4F6|olfactory receptor OR15-15|olfactory receptor, family 4, subfamily F, member 12 protein-coding 1605029 OR4F7P olfactory receptor, family 4, subfamily F, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 81390 NG_004682,AL031259 OR4F10 pseudo 1344483 OR4F8P olfactory receptor, family 4, subfamily F, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390872 NG_004359,AC010509,AC016626 OR4F20P|OR4F9P pseudo 1354219 OR4G11P olfactory receptor, family 4, subfamily G, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403263 NG_004423,AL627309 pseudo 1351007 OR4G1P olfactory receptor, family 4, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9384599 26681 NG_004133,AC005605,AC008977 OLB|OR4G8P pseudo 1348522 OR4G2P olfactory receptor, family 4, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26680 NG_003201,AB065964,AC140725,AF282024 OR4G7P pseudo 1353858 OR4G3P olfactory receptor, family 4, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9384599 26679 NG_003222,AC008993,L78442 OLC|OLC-7501|OR4G3|OR4G5P pseudo 1352059 OR4G4P olfactory receptor, family 4, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79504 NG_004148,AL627309 pseudo 1604781 OR4G6P olfactory receptor, family 4, subfamily G, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81438 NG_004268,AC140725,BK004536 OR11-302 pseudo 1348007 OR4H12P olfactory receptor, family 4, subfamily H, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 161271 NG_004089,AB065963,AL512310,BK004487 BAC06175,Q6IEX5 C14orf14|OR4H12|c14_5009 pseudo 1344172 OR4H6P olfactory receptor, family 4, subfamily H, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9500546 26322 AC134980,AF399449,U86229,U86230,U86231,U86232,U86233,U86265,U86266,U86268,U86269,U86273,NG_002307 OR14-58|OR15-69|OR15-71|OR15-80|OR15-81|OR15-82|OR4-114|OR4-115|OR4-119|OR4H10|OR4H10P|OR4H11|OR4H11P|OR4H1P|OR4H2|OR4H2P|OR4H3|OR4H3P|OR4H4|OR4H4P|OR4H5|OR4H5P|OR4H6|OR4H7|OR4H7P|OR4H8|OR4H8P|OR4H9|OR4H9P|OR5-39|OR5-84 pseudo 1348052 OR4H8P olfactory receptor, family 4, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 26320 NG_002185,AC134980,U86226 OR14-58|OR4H8 pseudo 1354130 OR4K1 olfactory receptor, family 4, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 79544 NM_001004063,AB065879,AB065881,AC024399,AF399570,AL359218,BK004356,CH471078,BC151145 NP_001004063,BAC06097,BAC06099,AAK95055,DAA04754,EAW66494,AAI51146,Q8NGD4 Hs.554584 OR14-19 olfactory receptor 4K1|olfactory receptor OR14-19 protein-coding 1345454 OR4K11P olfactory receptor, family 4, subfamily K, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12644552 81079 NG_004161,AF546490,AP001465 OR21-1 pseudo 1354408 OR4K12P olfactory receptor, family 4, subfamily K, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81078 NG_004160,AP001465 OR21-2 pseudo 1351116 OR4K13 olfactory receptor, family 4, subfamily K, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390433 NM_001004714,AB065559,AL359218,BK004449,CH471078,CS248338 NP_001004714,BAC05797,DAA04847,EAW66489,CAJ56862,Q8NH42 Hs.553573 OR14-27 olfactory receptor 4K13|olfactory receptor OR14-27 protein-coding 1347325 OR4K14 olfactory receptor, family 4, subfamily K, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 122740 NM_001004712,AB065880,AF399572,AL359218,BK004521,BK004816,CH471078,CS248428 NP_001004712,BAC06098,AAK95057,DAA04919,EAW66490,CAJ56734,Q8NGD5 Hs.626814 OR14-18|OR14-22 olfactory receptor 4K14|olfactory receptor OR14-18 pseudogene|olfactory receptor OR14-22 protein-coding 1351884 OR4K15 olfactory receptor, family 4, subfamily K, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 81127 NM_001005486,AB065560,AL359218,BK004468,CH471078,BC140726 NP_001005486,BAC05798,DAA04866,EAW66492,AAI40727,Q8NH41 Hs.554583 OR14-20|OR4K15Q olfactory receptor 4K15|olfactory receptor OR14-20 protein-coding 1347330 OR4K16P olfactory receptor, family 4, subfamily K, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81126 NG_004172,AL359218 OR14-24 pseudo 1317906 OR4K17 olfactory receptor, family 4, subfamily K, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 390436 NM_001004715,AB065891,AL163152,BK004450,CH471078,CS248250 NP_001004715,BAC06107,DAA04848,EAW66488,CAJ56650,Q8NGC6 Hs.553765 OR14-29 olfactory receptor 4K17|olfactory receptor OR14-29 protein-coding 1351442 OR4K2 olfactory receptor, family 4, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390431 NM_001005501,AB065883,AC024399,AL391156,BK004357,CH471078,BC136941,BC136942 NP_001005501,BAC06101,DAA04755,EAW66496,AAI36942,AAI36943,Q8NGD2 Hs.551345 OR14-15 olfactory receptor 4K2|olfactory receptor OR14-15 protein-coding 1350165 OR4K3 olfactory receptor, family 4, subfamily K, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12730696,12508121,12213199 283617 NG_003198,AB065884 Q96R72 OR14-10|OR4K3P olfactory receptor, family 4, subfamily K, member 3 gene/pseudogene|olfactory receptor, family 4, subfamily k, member 3 pseudogene pseudo 1344296 OR4K4P olfactory receptor, family 4, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79318 NG_002242,AC024399,AL391156 pseudo 1349816 OR4K5 olfactory receptor, family 4, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932,20379614 79317 NM_001005483,AB065882,AC024399,AL391156,BK004355,CH471078,BC140947 NP_001005483,BAC06100,DAA04753,EAW66495,AAI40948,Q8NGD3 Hs.554585 OR14-16 olfactory receptor 4K5|olfactory receptor OR14-16 protein-coding 1348908 OR4K6P olfactory receptor, family 4, subfamily K, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79314 NG_002240,AC024399,AL391156 pseudo 1349530 OR4K7P olfactory receptor, family 4, subfamily K, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79306 NG_002235,AC013659,AP005058 OR4K10P pseudo 1604687 OR4K8P olfactory receptor, family 4, subfamily K, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 390836 NG_002222,AP005058,BK004699 OR18-1|OR4K9P pseudo 1349097 OR4L1 olfactory receptor, family 4, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 122742 NM_001004717,AB065558,AL359218,BK004467,CS248430 NP_001004717,BAC05796,DAA04865,CAJ56735,Q8NH43 Hs.553574 OR14-28|OR4L2P olfactory receptor 4L1|olfactory receptor 4L2|olfactory receptor OR14-28|olfactory receptor, family 4, subfamily L, member 2 pseudogene protein-coding 1354390 OR4M1 olfactory receptor, family 4, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 441670 NM_001005500,AB065886,AC024399,AL512310,BK004359,CH471078,BC136987 NP_001005500,BAC06103,DAA04757,EAW66499,AAI36988,Q8NGD0 Hs.553829 OR14-7 olfactory receptor 4M1|olfactory receptor OR14-7 protein-coding 1342583 OR4M2 olfactory receptor, family 4, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390538 NM_001004719,AB065903,AC134980,BK004480,BC136985 NP_001004719,BAC06118,DAA04878,AAI36986,Q8NGB6 Hs.525666 OR15-3 olfactory receptor 4M2|olfactory receptor OR15-3 protein-coding 1349619 OR4N1P olfactory receptor, family 4, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 79322 NG_002243,AC024399,AL391156,AL512310,BK004696,BK004715 OR14-12|OR14-6 pseudo 1351369 OR4N2 olfactory receptor, family 4, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390429 NM_001004723,AB065885,AC024399,AL391156,BK004360,BK004473,CH471078 NP_001004723,BAC06102,DAA04758,DAA04871,EAW66498,Q8NGD1,AAI40460,AAI48709 Hs.512490 OR14-13|OR14-8 olfactory receptor 4N2|olfactory receptor OR14-13|olfactory receptor OR14-8 protein-coding 1605498 OR4N3P olfactory receptor, family 4, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 390539 BX114189,NR_028067,AB065654,AB065905,AC010760,AC134980,BK004787 BAC05880,BAC06120,Q8N0X1 Hs.666555 OR15-2 pseudo 1344920 OR4N4 olfactory receptor, family 4, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,14702039,12477932 283694 NM_001005241,AB065653,AB065904,AC134980,BK004406,BK004479,CH878499,BC136597,BC136598 NP_001005241,BAC05879,BAC06119,DAA04804,DAA04877,EAW50561,AAI36598,AAI36599,Q8N0Y3 Hs.727417,Hs.525666 OR15-1|OR15-5 olfactory receptor 4N4|olfactory receptor OR15-1|olfactory receptor OR15-5 protein-coding 1322544 OR4N5 olfactory receptor, family 4, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390437 NM_001004724,AB065890,AL163152,BK004451,CH471078,CS248252 NP_001004724,BAC45262,DAA04849,EAW66487,CAJ56860,Q8IXE1 Hs.553766 olfactory receptor 4N5|olfactory receptor OR14-33 protein-coding 1346655 OR4P1P olfactory receptor, family 4, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79308 NG_002236,AB065518,AC022289,AP006437 OR4P2P pseudo 1349189 OR4P4 olfactory receptor, family 4, subfamily P, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12213199 81300 NM_001004124,AB065775,AF399448,AP006437,CH471076 NP_001004124,BAC05995,EAW73677,Q8NGL7 Hs.626750 OR4P3P olfactory receptor 4P3|olfactory receptor 4P4|olfactory receptor, family 4, subfamily P, member 3 pseudogene protein-coding 1353763 OR4Q1P olfactory receptor, family 4, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81104 NG_004162,AC134980 pseudo 1347787 OR4Q2 olfactory receptor, family 4, subfamily Q, member 2 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12730696,12213199 390432 NG_004349,AL359218 P0C623 OR4Q2P pseudo 1344620 OR4Q3 olfactory receptor, family 4, subfamily Q, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,10706615 441669 NM_172194,AB065609,AF179768,AL512310,BK004488,CH471078 NP_751944,BAC05836,DAA04886,EAW66501,Q8NH05,AAI48514,AAI53112 Hs.553828 C14orf13|HSA6|OR14-3|OR4Q4|c14_5008 olfactory receptor 4Q3|olfactory receptor 4Q4|olfactory receptor OR14-3|olfactory receptor, family 4, subfamily Q, member 4 protein-coding 1348008 OR4R1P olfactory receptor, family 4, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79528 NG_002265,AC134982,AP002509 pseudo 1354330 OR4R2P olfactory receptor, family 4, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81299 NG_004231,AC126345 pseudo 1351177 OR4R3P olfactory receptor, family 4, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81298 NG_004230,AC110057,AP006587 pseudo 1348625 OR4S1 olfactory receptor, family 4, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 256148 NM_001004725,AB065908,BK004348,CH471064,AC023080 BAC06123,NP_001004725,DAA04746,EAW67869,Q8NGB4 Hs.553657 OR11-100 olfactory receptor 4S1|olfactory receptor OR11-100 protein-coding 1345934 OR4S2 olfactory receptor, family 4, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12644552,12213199 219431 NM_001004059,AB065516,AC027239,AF399447,AF546546,AP006437,BK004390,CH471076,CS248346 NP_001004059,BAC05764,DAA04788,EAW73678,CAJ56693,Q8NH73,AAI41532 Hs.553621 OR11-137|OR4S2P|OST725 olfactory receptor 4S2|olfactory receptor OR11-137|olfactory receptor, family 4, subfamily S, member 2 pseudogene protein-coding 1351305 OR4T1P olfactory receptor, family 4, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390435 NG_004351,AL163152 pseudo 1353393 OR4U1P olfactory receptor, family 4, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390434 NG_004350,AL359218 OR14-23 pseudo 1347269 OR4V1P olfactory receptor, family 4, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79534 NG_002270,AC022289,AP006437 pseudo 1345097 OR4W1P olfactory receptor, family 4, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81077 NG_004159,Z69908 pseudo 1350139 OR4X1 olfactory receptor, family 4, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17964544,14983052 390113 NM_001004726,AB065544,AC026975,BK004388,CH471064,CS248256 NP_001004726,BAC05789,DAA04786,EAW67870,CAJ56652,Q8NH49 Hs.553742 OR11-104 olfactory receptor 4X1|olfactory receptor OR11-104 protein-coding 1353376 OR4X2 olfactory receptor, family 4, subfamily X, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,12213199,14983052 119764 NM_001004727,AB065847,AC026975,AF399580,BK004389,CH471064,CS248258,BC136935,BC136936 NP_001004727,BAC06065,AAK95065,DAA04787,EAW67871,CAJ56653,AAI36936,AAI36937,Q8NGF9 Hs.553565 OR11-105 olfactory receptor 4X2|olfactory receptor OR11-105 protein-coding 1353308 OR4X7P olfactory receptor, family 4, subfamily X, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403264 NG_005820,AP005639 pseudo 1353135 OR51A10P olfactory receptor, family 51, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81295 NG_004229,AC087380 OR51A11P|OR51A13 pseudo 1348493 OR51A1P olfactory receptor, family 51, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9272169 26537 NG_002199,AC129505,X81445,NG_024303 CAB89291,Q9NSC9 HPFH6OR pseudo 1348064 OR51A2 olfactory receptor, family 51, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 401667 NM_001004748,AB065797,AC018375,AC020597,CS248512 NP_001004748,BAC06016,CAJ56773,Q8NGJ7,AAI48563 Hs.553805 olfactory receptor 51A2 protein-coding 1348436 OR51A3P olfactory receptor, family 51, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79532 NG_002268,AC018375,AC020597 pseudo 1345327 OR51A4 olfactory receptor, family 51, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932 401666 NM_001005329,AB065798,AC018375,AC020597,CS248508,BC140757 NP_001005329,BAC06017,CAJ56771,AAI40758,Q8NGJ6 Hs.555481 olfactory receptor 51A4 protein-coding 1352360 OR51A5P olfactory receptor, family 51, subfamily A, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79525 NG_002263,AC018375,AC020597 pseudo 1353357 OR51A6P olfactory receptor, family 51, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390046 NG_004325,AC018375 pseudo 1352941 OR51A7 olfactory receptor, family 51, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 119687 NM_001004749,AB065525,AC018375,BK004284,CH471064,CS248528,BC137062,BC137063 NP_001004749,BAC05773,EAW68822,CAJ56781,AAI37063,AAI37064,Q8NH64,DAA04682 Hs.553560 OR11-27 olfactory receptor 51A7|olfactory receptor OR11-27 protein-coding 1345489 OR51A8P olfactory receptor, family 51, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 401662 NG_004387,AC103710 pseudo 1354033 OR51A9P olfactory receptor, family 51, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390039 NG_004320,AC090719 pseudo 1353482 OR51AB1P olfactory receptor, family 51, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403265 NG_004424,AC104389 pseudo 1351923 OR51B2 olfactory receptor, family 51, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,12213199,11121057,10220430 79345 NM_033180,AC104389,AF137396,AF149710,AF399503,CH471064,BC117461 NP_149420,AAD29425,AAK94988,EAW68800,AAI17462,Q17R53,Q9Y5P1,ADR82912 Hs.680163 HOR5'Beta3|OR51B1P odorant receptor HOR5'beta3|olfactory receptor 51B1|olfactory receptor 51B2 protein-coding 1345725 OR51B3P olfactory receptor, family 51, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11121057 79342 NG_004142,AC104389 pseudo 1344392 OR51B4 olfactory receptor, family 51, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 11121057,15489334,12477932,10220430 79339 NM_033179,AC104389,AF137396,CH471064,BC069094,BC100919,BC148186,BC153815 NP_149419,AAD29426,EAW68801,AAH69094,AAI00920,AAI48187,AAI53816,Q9Y5P0 Hs.679499 HOR5'Beta1 odorant receptor HOR5'beta1|olfactory receptor 51B4 protein-coding 1343909 OR51B5 olfactory receptor, family 51, subfamily B, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,20018918,11121057,14983052,10220430 282763 NM_001005567,AC104389,AF137396,BK004430,CH471064,BC136707,BC136708 NP_001005567,AAG41683,DAA04828,EAW68799,AAI36708,AAI36709,Q05CQ2,Q9H339 Hs.690458 HOR5'Beta5|OR11-37 odorant receptor HOR5'beta5|olfactory receptor 51B5|olfactory receptor OR11-37 protein-coding 1350324 OR51B6 olfactory receptor, family 51, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 20018918,11121057,10220430 390058 NM_001004750,AC104389,AF137396,CH471064 NP_001004750,AAG41682,EAW68798,Q9H340,AAI48510,AAI53110 Hs.553730 HOR5'Beta6 odorant receptor HOR5'beta6|olfactory receptor 51B5|olfactory receptor 51B6 protein-coding 1349285 OR51B8P olfactory receptor, family 51, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403266 NG_004425,AC104389 pseudo 1343067 OR51C1P olfactory receptor, family 51, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401661 NG_004228,AB065521,AC090719 OR51C2P|OR51C3P|OST734 pseudo 1353212 OR51C4P olfactory receptor, family 51, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390041 NG_004322,AC103710 pseudo 1344581 OR51D1 olfactory receptor, family 51, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12732197,12477932 390038 NM_001004751,AB065855,AC090719,BK004370,CH471064,CS248544,BC140717 NP_001004751,BAC06073,DAA04768,EAW68833,CAJ56789,AAI40718,Q8NGF3 Hs.553728 OR11-14|OR51D1Q olfactory receptor 51D1|olfactory receptor OR11-14 protein-coding 1605574 OR51E1 olfactory receptor, family 51, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16491480,16206286,15489334,15313197,14983052,14702039,12732197,12477932,7566098,20589678 143503 NM_152430,AB065787,AC090719,BK004369,CH471064,CS248538,AK023643,AK293091,AL833127,AY698056,AY775731,BC022401 NP_689643,BAC06006,DAA04767,EAW68832,CAJ56786,BAF85780,AAU07996,AAV54110,AAH22401,Q8TCB6 Hs.470038 D-GPCR|FLJ13581|GPR136|GPR164|MGC24137|OR51E1P|OR52A3P|POGR|PSGR2 Dresden-G-protein-coupled receptor|G-protein coupled receptor 164|olfactory receptor 51E1|olfactory receptor 52A3|olfactory receptor OR11-15|olfactory receptor, family 51, subfamily E, member 1 pseudogene|olfactory receptor, family 52, subfamily A, member 3 pseudogene|prostate overexpressed G protein-coupled receptor|prostate-overexpressed G protein-coupled receptor|prostate-specific G protein-coupled receptor 2 protein-coding 736827 OR51E2 olfactory receptor, family 51, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 19389702,16491480,16231015,16149059,15499628,15489334,14983052,12477932,11707321,11593396,11181995,11118034,7566098 81285 NM_030774,AC090719,AC105936,AF311306,BK004368,CH471064,CS248536,AF369708,AK314051,AY033942,BC020768 NP_110401,AAG40776,DAA04766,EAW68829,EAW68831,CAJ56785,AAK38728,BAG36760,AAK57550,AAH20768,Q9H255,ABM83628,ABM86872 Hs.501758,Hs.606330 OR51E3P|OR52A2|PSGR HPRAJ|olfactory receptor 51E2|olfactory receptor 78|olfactory receptor OR11-16|olfactory receptor, family 51, subfamily E, member 3 pseudogene|olfactory receptor, family 52, subfamily A, member 2|prostate specific G-protein coupled receptor|prostate-specific G-protein coupled receptor protein-coding 1353833 OR51F1 olfactory receptor, family 51, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12644552 256892 NM_001004752,AC103710,AF546560,BK004771 NP_001004752,A6NGY5 Hs.553659 OR11-21|OR51F1P olfactory receptor 51F1|olfactory receptor OR11-21 pseudogene|olfactory receptor, family 51, subfamily F, member 1 pseudogene protein-coding 1317227 OR51F2 olfactory receptor, family 51, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 119694 NM_001004753,AB065529,AC103710,BK004281,CH471064,CS248514,BC136877 NP_001004753,BAC05776,DAA04679,EAW68826,CAJ56774,AAI36878,Q8NH61 Hs.553562 OR11-23 olfactory receptor 51F2|olfactory receptor OR11-23 protein-coding 1353578 OR51F3P olfactory receptor, family 51, subfamily F, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390043 AC103710,NG_004323 pseudo 1353480 OR51F4P olfactory receptor, family 51, subfamily F, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390044 NG_004324,AC103710 pseudo 1348115 OR51F5P olfactory receptor, family 51, subfamily F, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390040 NG_004321,AC103710 pseudo 1345426 OR51G1 olfactory receptor, family 51, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932,20379614 79324 NM_001005237,AB065793,AC018375,AC020597,BK004286,CH471064,BC136852,BC136861 NP_001005237,BAC06012,DAA04684,EAW68820,AAI36853,AAI36862,Q8NGK1 Hs.554541 OR11-29|OR51G3P olfactory receptor 51G1|olfactory receptor 51G3|olfactory receptor OR11-29 protein-coding 1351753 OR51G2 olfactory receptor, family 51, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12908129,12477932 81282 NM_001005238,AB065794,AC018375,AY284517,BK004285,CH471064,CS248520,BC136830,BC136831 NP_001005238,BAC06013,DAA04683,CAJ56777,AAI36831,AAI36832,Q8NGK0,EAW68821 Hs.542302 OR11-28 olfactory receptor 51G2|olfactory receptor OR11-28 protein-coding 1353617 OR51H1P olfactory receptor, family 51, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 401663 NG_004388,AB065527,AC011711,BK004279,CH471064 BAC05774,DAA04677,EAW68824,Q8NH63 OR51H1 pseudo 1353970 OR51H2P olfactory receptor, family 51, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 401664 NG_004389,AC011711 pseudo 1349575 OR51I1 olfactory receptor, family 51, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,11121057,14983052,10220430 390063 NM_001005288,AC087380,AF137396,BK004429,CH471064,CS248488,BC151148 NP_001005288,AAG41679,DAA04827,EAW68794,CAJ56761,AAI51149,Q9H343 Hs.553732 HOR5'Beta11|odorant receptor HOR5'beta11|olfactory receptor 51I1|olfactory receptor OR11-39 protein-coding 1346805 OR51I2 olfactory receptor, family 51, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,11121057,14983052,10220430 390064 NM_001004754,AC087380,AF137396,BK004381,CH471064,CS248486,BC140730 NP_001004754,AAG41678,DAA04779,EAW68793,CAJ56760,AAI40731,Q9H344 Hs.553733 OR11-38 HOR5'Beta12|odorant receptor HOR5'beta12|olfactory receptor 51I2|olfactory receptor OR11-38 protein-coding 1349282 OR51J1 olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11121057 79470 NG_002252,AC026083,AC104389 Q9H342 OR51J1P|OR51J2 pseudo 1344394 OR51K1P olfactory receptor, family 51, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81278 NG_004226,AC087380 pseudo 1343610 OR51L1 olfactory receptor, family 51, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 119682 NM_001004755,AB065799,AC018375,AC020597,BK004317,CH471064,CS248510 NP_001004755,BAC06018,DAA04715,EAW68816,CAJ56772,Q8NGJ5,AAI41572,AAI46585 Hs.553559 OR11-31 olfactory receptor 51L1|olfactory receptor OR11-31 protein-coding 1349567 OR51M1 olfactory receptor, family 51, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,11121057,14983052,10220430 390059 NM_001004756,AC026083,AC104389,AF137396,BK004382,CH471064,CS248490,BC136912,BC136913 NP_001004756,AAG41681,DAA04780,EAW68797,CAJ56762,AAI36913,AAI36914,Q9H341 Hs.553731 HOR5'Beta7|OR11-40 odorant receptor HOR5'beta7|olfactory receptor 51M1|olfactory receptor OR11-40 protein-coding 1348713 OR51N1P olfactory receptor, family 51, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 119696 NG_004281,AC103710 pseudo 1351447 OR51P1P olfactory receptor, family 51, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79300 NG_002232,AC020597,AC113331 OR51P2P pseudo 1343317 OR51Q1 olfactory receptor, family 51, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,16554811 390061 NM_001004757,AB065531,AC026083,AC087380,CH471064,CS248492,BC136999 NP_001004757,BAC05778,EAW68795,CAJ56763,AAI37000,Q8NH59 Hs.528592 olfactory receptor 51Q1 protein-coding 1350679 OR51R1P olfactory receptor, family 51, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390034 NG_004318,AC009758 pseudo 1347151 OR51S1 olfactory receptor, family 51, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 119692 NM_001004758,AB065796,AC011711,AC103710,BK004280,CH471064,CS248554,BC136932,BC136934 NP_001004758,BAC06015,DAA04678,EAW68825,CAJ56794,AAI36933,AAI36935,Q8NGJ8 Hs.553561 OR11-24 olfactory receptor 51S1|olfactory receptor OR11-24 protein-coding 1352520 OR51T1 olfactory receptor, family 51, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 401665 NM_001004759,AB065795,AC011711,BK004283,CH471064 NP_001004759,BAC06014,DAA04681,EAW68823,Q8NGJ9,AAI56308,AAI72458 Hs.553804 OR11-26 OTTHUMP00000069319|olfactory receptor 51T1|olfactory receptor OR11-26 protein-coding 1343262 OR51V1 olfactory receptor, family 51, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11121057,14983052 283111 NM_001004760,AC104389,AF289203,BK004432,CH471064 AAI56855,NP_001004760,AAG42364,DAA04830,EAW68807,Q9H2C8 Hs.553670 OR11-36|OR51A12 odorant receptor HOR3'beta1|olfactory receptor 51A12|olfactory receptor 51V1|olfactory receptor OR11-36 protein-coding 1342762 OR52A1 olfactory receptor, family 52, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 20201926,10512676,15489334,14983052,12477932,11121057 23538 NG_027733,NM_012375,AC129505,AF154673,AF289204,BK004431,CH471064,BC111691,BC111722 NP_036507,AAD51279,AAG42367,DAA04829,EAW68808,AAI11723,Q9UKL2,AAI40284 Hs.553520 HPFH1OR OTTHUMP00000069570|odorant receptor HOR3'beta4|olfactory receptor 52A1|olfactory receptor OR11-319 protein-coding 1347125 OR52A4 olfactory receptor, family 52, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932 390053 NM_001005222,AC113331,BC140752 NP_001005222,AAI40753,A6NMU1 Hs.553729 putative olfactory receptor 52A4 protein-coding 1344467 OR52A5 olfactory receptor, family 52, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11121057,14983052 390054 NM_001005160,AC129505,AF289204,BK004433,CH471064,AY726590 NP_001005160,AAG42368,DAA04831,EAW68809,Q9H2C5,AAI41495 Hs.546593 OR11-33 odorant receptor HOR3'beta5|olfactory receptor 52A5|olfactory receptor OR11-33 protein-coding 1348903 OR52B1P olfactory receptor, family 52, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81274 NG_004225,AC022762 pseudo 1347309 OR52B2 olfactory receptor, family 52, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,12477932 255725 NM_001004052,AB065763,AB065939,AC022762,AF399505,BK004324,CH471064,CS248472,BC136732,BC136733 NP_001004052,BAC05983,BAC06154,AAK94990,DAA04722,EAW68744,CAJ56756,AAI36733,AAI36734,Q8NG91,Q96RD2 Hs.690457 OR11-70 olfactory receptor 52B2|olfactory receptor OR11-70 protein-coding 1350318 OR52B3P olfactory receptor, family 52, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 387747 NG_004311,AC009758 pseudo 1316140 OR52B4 olfactory receptor, family 52, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932,20677014 143496 NM_001005161,AB065792,AC009758,BK004256,CH471064,BC140928 NP_001005161,BAC06011,DAA04654,EAW68847,AAI40929,Q8NGK2 Hs.447463 OR11-3 olfactory receptor 52B4|olfactory receptor OR11-3 protein-coding 1350568 OR52B5P olfactory receptor, family 52, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81270 NG_004224,AC015691 pseudo 1351225 OR52B6 olfactory receptor, family 52, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 340980 NM_001005162,AB065858,AC015691,BK004275 NP_001005162,BAC06076,DAA04673,Q8NGF0 Hs.553704 OR11-47 olfactory receptor 52B6|olfactory receptor OR11-47 protein-coding 1344092 OR52D1 olfactory receptor, family 52, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11121057,14983052,10220430,20677014,12477932 390066 NM_001005163,AC087380,AF137396,BK004276,CH471064,CS248482,BC136928,BC136930 NP_001005163,AAG41676,DAA04674,EAW68791,CAJ56759,AAI36929,AAI36931,Q9H346 Hs.553734 OR11-43 HOR 5'Beta14|odorant receptor HOR5'beta14|olfactory receptor 52D1|olfactory receptor OR11-43 protein-coding 1346521 OR52E1 olfactory receptor, family 52, subfamily E, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79296 NG_003197,AB065801,AC020597,AC113331 BAC06020,Q8NGJ3 OR52E1P olfactory receptor, family 52, subfamily e, member 1 gene/pseudogene pseudo 1347048 OR52E2 olfactory receptor, family 52, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 119678 NM_001005164,AB065800,AC113331,CH471064 NP_001005164,BAC06019,EAW68812,Q8NGJ4 Hs.553557 olfactory receptor 52E2|olfactory receptor, family 10, subfamily AC, member 1 pseudogene protein-coding 1346155 OR52E3P olfactory receptor, family 52, subfamily E, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79533 NG_002269,AC020597,AC113331 pseudo 1353810 OR52E4 olfactory receptor, family 52, subfamily E, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390081 NM_001005165,AB065817,AC131574,BK004302,CH471064,CS248466,BC136972,BC136974 NP_001005165,BAC06036,DAA04700,EAW68756,CAJ56753,AAI36973,AAI36975,Q8NGH9 Hs.553739 OR11-55 olfactory receptor 52E4|olfactory receptor OR11-55 protein-coding 1344315 OR52E5 olfactory receptor, family 52, subfamily E, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390082 NG_005911,AB065536,AC025016,AC131574,BK004566 BAC05782,Q8NH55 OR11-56 pseudo 1343147 OR52E6 olfactory receptor, family 52, subfamily E, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,20677014 390078 CS248464,NM_001005167,AB065815,AC131574,AF399504,BK004304,CH471064 CAJ56752,Q96RD3,NP_001005167,BAC06034,AAK94989,DAA04702,EAW68758 Hs.534693 OR11-58 olfactory receptor 52E6|olfactory receptor OR11-58 protein-coding 1352285 OR52E7P olfactory receptor, family 52, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81264 NG_004223,AC131574 pseudo 1349859 OR52E8 olfactory receptor, family 52, subfamily E, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,16554811,14983052 390079 NM_001005168,AC131574,BK004301,CH471064,CS248468,BC137030,BC137041 AAI37042,Q6IFG1,NP_001005168,DAA04699,EAW68757,CAJ56754,AAI37031 Hs.553738 OR11-54 olfactory receptor 52E8|olfactory receptor OR11-54|olfactory receptor, family 52, subfamily E, member 8 pseudogene protein-coding 1344719 OR52H1 olfactory receptor, family 52, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 390067 NM_001005289,AB065802,AC087380,BK004383,BK004682,CH471064,BC136998 NP_001005289,BAC06021,DAA04781,EAW68787,AAI36999,Q8NGJ2 Hs.554540 OR11-41|OR11-45 olfactory receptor 52H1|olfactory receptor OR11-41 pseudogene|olfactory receptor OR11-45 protein-coding 1346583 OR52H2P olfactory receptor, family 52, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81261 NG_004222,AC087380 pseudo 1349331 OR52I1 olfactory receptor, family 52, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12732197,19795399 390037 NM_001005169,AB065788,AC090719,BK004371,CH471064,CS248542 NP_001005169,BAC06007,DAA04769,EAW68836,CAJ56788,Q8NGK6,AAI48541,AAI53132 Hs.553727 OR11-13 olfactory receptor 52I1|olfactory receptor OR11-13 protein-coding 1352778 OR52I2 olfactory receptor, family 52, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12732197,12477932 143502 NM_001005170,AB065522,AC090719,BK004264,CH471064,BC136921,BC151144 NP_001005170,BAC05770,DAA04662,AAI36922,AAI51145,Q8NH67,EAW68837 Hs.553607 OR11-12 olfactory receptor 52I2|olfactory receptor OR11-12 protein-coding 1351984 OR52J1P olfactory receptor, family 52, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79302 NG_002234,AC113331 pseudo 1342965 OR52J2P olfactory receptor, family 52, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79529 NG_002266,AC020597,AC113331 OR52J4P pseudo 1353752 OR52J3 olfactory receptor, family 52, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 119679 NM_001001916,AB065530,AC113331,BK004318,CH471064,CS248506 NP_001001916,BAC05777,DAA04716,EAW68813,CAJ56770,Q8NH60 Hs.553558 OR11-32 olfactory receptor 52J3|olfactory receptor OR11-32 protein-coding 1345673 OR52K1 olfactory receptor, family 52, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390036 NM_001005171,AB065790,AC010930,BK004257,CH471064,CS248452,BC137056,BC137059 AAI37060,Q8NGK4,NP_001005171,BAC06009,DAA04655,EAW68842,CAJ56746,AAI37057 Hs.553726 OR11-8 olfactory receptor 52K1|olfactory receptor OR11-8 protein-coding 1349972 OR52K2 olfactory receptor, family 52, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 119774 BK004258,CH471064,CS248450,BC137247,BC137248,NM_001005172,AB065791,AC010930 DAA04656,EAW68843,CAJ56745,AAI37248,AAI37249,Q8NGK3,NP_001005172,BAC06010 Hs.553568 OR11-7 olfactory receptor 52K2|olfactory receptor OR11-7 protein-coding 1350564 OR52K3P olfactory receptor, family 52, subfamily K, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 390035 NG_004319,AC010930,AF143328 AAD33911,Q9Y347 Hs.162035 pseudo 1352155 OR52L1 olfactory receptor, family 52, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12908129,12477932 338751 NM_001005173,AB065819,AC009642,AC111177,AY284549,BK004253,CH471064,CS248446,BC137343 NP_001005173,BAC06038,DAA04651,EAW68750,CAJ56743,AAI37344,Q8NGH7 Hs.553703 OR11-50 olfactory receptor 52L1|olfactory receptor OR11-50 protein-coding 1353890 OR52L2P olfactory receptor, family 52, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 79274 NG_003195,AB065820,AC009642,AC111177,BK004254 BAC06039,DAA04652,Q8NGH6 OR52L2 pseudo 1349652 OR52M1 olfactory receptor, family 52, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12732197,12644552 119772 NM_001004137,AB065789,AC025249,AC090719,AF546574,BK004372,CH471064 NP_001004137,BAC06008,DAA04770,EAW68839,Q8NGK5,AAI46425 Hs.553567 OR11-11|OR52M1P|OR52M3P olfactory receptor 52M1|olfactory receptor OR11-11|olfactory receptor, family 52, subfamily M, member 1 pseudogene|olfactory receptor, family 52, subfamily M, member 3 pseudogene protein-coding 1345173 OR52M2P olfactory receptor, family 52, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 338637 NG_004305,AC010930 OR52M4 pseudo 1348757 OR52N1 olfactory receptor, family 52, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 79473 NM_001001913,AB065538,AC131574,BK004306,CH471064,CS248460 NP_001001913,BAC05784,DAA04704,EAW68761,CAJ56750,Q8NH53 Hs.690209 OR11-61 olfactory receptor 52N1|olfactory receptor OR11-61 protein-coding 1346756 OR52N2 olfactory receptor, family 52, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,14983052 390077 NM_001005174,AB065816,AC131574,BK004303,CH471064,CS248456,BC140732 NP_001005174,BAC06035,DAA04701,EAW68759,CAJ56748,AAI40733,Q8NGI0 Hs.553737 OR11-57 olfactory receptor 52N2|olfactory receptor OR11-57 protein-coding 1347746 OR52N3P olfactory receptor, family 52, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81251 NG_004221,AC131574,BK004567 OR11-60 pseudo 1352153 OR52N4 olfactory receptor, family 52, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390072 NM_001005175,AB065813,AC131574,BK004385,CH471064,CS248494,BC137035,BC137036 NP_001005175,BAC06032,DAA04783,EAW68764,CAJ56764,AAI37036,AAI37037,Q8NGI2 Hs.553735 OR11-64 olfactory receptor 52N4|olfactory receptor OR11-64 protein-coding 1347388 OR52N5 olfactory receptor, family 52, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,14983052 390075 NM_001001922,AB065535,AC131574,BK004300,CH471064,BC136979,BC136981 NP_001001922,BAC05781,DAA04698,EAW68762,AAI36980,AAI36982,Q8NH56 Hs.690207 OR11-62|OR52N5Q olfactory receptor 52N5|olfactory receptor OR11-62 protein-coding 1346171 OR52P1P olfactory receptor, family 52, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81248 NG_004220,AB065534,AC109341,BK004746 Q8NH57 OR11-66|OR52P1 pseudo 1353085 OR52P2P olfactory receptor, family 52, subfamily P, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 119775 NG_004282,AC009758 pseudo 1353916 OR52Q1P olfactory receptor, family 52, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81246 NG_004219,AC025016 pseudo 1354346 OR52R1 olfactory receptor, family 52, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 119695 NM_001005177,AB065857,AC103710,BK004282,CH471064 NP_001005177,BAC06075,DAA04680,EAW68827,Q8NGF1 Hs.553563 OR11-22 OTTHUMP00000069321|olfactory receptor 52R1|olfactory receptor OR11-22 protein-coding 1353465 OR52S1P olfactory receptor, family 52, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79521 NG_002262,AC020597,AC113331 pseudo 1348721 OR52T1P olfactory receptor, family 52, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81244 NG_004218,AC015691 pseudo 1345158 OR52U1P olfactory receptor, family 52, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81243 NG_004217,AC109341 pseudo 1343178 OR52V1P olfactory receptor, family 52, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81242 NG_004216,AC087380 pseudo 1353462 OR52W1 olfactory receptor, family 52, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16554811,14983052,12477932 120787 NM_001005178,AB065511,AC022762,BK004399,CH471064,CS248474,BC137225 NP_001005178,BAC05759,DAA04797,EAW68742,CAJ56865,AAI37226,Q6IF63 Hs.553570 OR11-71|OR52W1P olfactory receptor 52W1|olfactory receptor OR11-71|olfactory receptor, family 52, subfamily W, member 1 pseudogene protein-coding 1345989 OR52X1P olfactory receptor, family 52, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79272 NG_002220,AC009642,AC111177 pseudo 1346460 OR52Y1P olfactory receptor, family 52, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81240 NG_004215,AC103710 OR52Y2P pseudo 1351783 OR52Z1 olfactory receptor, family 52, subfamily Z, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 17973576,16554811,11121057 283110 NG_004304,AC129505 P0C646,Q9H2C7 OR52Z1P pseudo 1347049 OR55B1P olfactory receptor, family 55, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390030 NG_004317,AC015689 OR55B2P|OR55C1P pseudo 1349253 OR56A1 olfactory receptor, family 56, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 120796 NM_001001917,AB065821,AC111177,BK004252,CH471064,CS248444,BC136904,BC136911 NP_001001917,BAC06040,DAA04650,EAW68748,CAJ56742,AAI36905,AAI36912,Q8NGH5 Hs.553543 OR11-75 olfactory receptor 56A1|olfactory receptor OR11-75 protein-coding 1351120 OR56A3 olfactory receptor, family 56, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390083 NM_001003443,AB065537,AC009642,AC025016,BK004305,CS248462 NP_001003443,BAC05783,DAA04703,CAJ56751,Q8NH54 Hs.553741 OR56A2P|OR56A3P|OR56A6 olfactory receptor 56A3|olfactory receptor 56A6|olfactory receptor OR11-51|olfactory receptor, family 56, subfamily A, member 2 pseudogene|olfactory receptor, family 56, subfamily A, member 3 pseudogene|olfactory receptor, family 56, subfamily A, member 6 protein-coding 1347825 OR56A4 olfactory receptor, family 56, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 120793 NM_001005179,AB065818,AC009642,AC111177,BK004255,CH471064,BC136986 NP_001005179,BAC06037,DAA04653,EAW68749,AAI36987,Q6IFK7,Q8NGH8 Hs.553571 OR11-49 olfactory receptor 56A4|olfactory receptor OR11-49 protein-coding 1344603 OR56A5 olfactory receptor, family 56, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16554811 390084 NM_001146033,AC009642,AC025016 NP_001139505,P0C7T3 Hs.719888 OR56A5P olfactory receptor 56A5|olfactory receptor, family 56, subfamily A, member 5 pseudogene protein-coding 1350527 OR56A7P olfactory receptor, family 56, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81236 NG_004214,AC111177 pseudo 1347435 OR56B1 olfactory receptor, family 56, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17567994,14983052,12477932 387748 NM_001005180,AB065812,AC131574,BK004386,CH471064,CS248498,AK122668,BC137184,BC137185 NP_001005180,BAC06031,DAA04784,EAW68765,CAJ56766,BAG53654,AAI37185,AAI37186,Q8NGI3 Hs.689609 OR11-65|OR56B1P olfactory receptor 56B1|olfactory receptor OR11-65|olfactory receptor, family 56, subfamily B, member 1 pseudogene protein-coding 1348024 OR56B2P olfactory receptor, family 56, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 390073 NG_004326,AB065814,AC131574,BK004384 BAC06033,DAA04782,Q6IF78,Q8NGI1 OR11-63|OR56B2 pseudo 1353339 OR56B3P olfactory receptor, family 56, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 401675 NG_004390,AC111177 pseudo 1348653 OR56B4 olfactory receptor, family 56, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 196335 AC111177,BK004325,CH471064,CS248476,BC136879,BC136880,NM_001005181,AB065513 DAA04723,EAW68746,CAJ56757,AAI36880,AAI36881,Q8NH76,NP_001005181,BAC05761 Hs.632154 OR11-67 olfactory receptor 56B4|olfactory receptor OR11-67 protein-coding 1354277 OR5A1 olfactory receptor, family 5, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219982 NM_001004728,AB065804,AC019093,AC069371,AF399528,AP003778,BK004310,CH471076,CS248278,BC137060,BC137061 NP_001004728,BAC06023,AAK95013,DAA04708,EAW73844,CAJ56662,AAI37061,AAI37062,Q8NGJ0 Hs.553649 OR11-249|OR5A1P|OST181 olfactory receptor 5A1|olfactory receptor OR11-249|olfactory receptor, family 5, subfamily A, member 1 pseudogene protein-coding 1349600 OR5A2 olfactory receptor, family 5, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219981 NM_001001954,AB065805,AF399529,AP003778,BK004308,CH471076,CS248276,BC136991 NP_001001954,BAC06024,AAK95014,DAA04706,EAW73843,CAJ56661,AAI36992,Q8NGI9 Hs.553648 olfactory receptor 5A2|olfactory receptor OR11-248 protein-coding 1342645 OR5AC1 olfactory receptor, family 5, subfamily AC, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 17973576,14983052 81431 NG_004267,AC024892 P0C628 OR5AC1P pseudo 1349503 OR5AC2 olfactory receptor, family 5, subfamily AC, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 10706615,16641997 81050 NM_054106,AC133439,AF179759,CH471052 NP_473447,AAF40348,EAW79870,Q9NZP5,AAI48626,AAI53190 Hs.554715 HSA1 olfactory receptor 5AC2 protein-coding 1343346 OR5AC4P olfactory receptor, family 5, subfamily AC, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403271 NG_004426,AC117460 pseudo 1344757 OR5AH1P olfactory receptor, family 5, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79336 NG_002357,AC006115 pseudo 1344070 OR5AK1P olfactory receptor, family 5, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81230 NG_004213,AP002826 OR5AK5P pseudo 1348283 OR5AK2 olfactory receptor, family 5, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390181 NM_001005323,AB065496,AP002826,CH471076,BC137198 NP_001005323,BAC05747,EAW73728,AAI37199,Q8NH90 Hs.554520 olfactory receptor 5AK2 protein-coding 1346192 OR5AK3P olfactory receptor, family 5, subfamily AK, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81228 NG_004212,AP002826 Q8NH89 OR5AK3 pseudo 1350661 OR5AK4P olfactory receptor, family 5, subfamily AK, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12908129,11705801 219525 AF309701,AY284037,AF309700,NR_036445 Hs.554519 PJCG3 pseudo 1342502 OR5AL1 olfactory receptor, family 5, subfamily AL, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12730696,12213199 79482 NG_004144,AP002512 P0C617 OR5AL1P pseudo 1343300 OR5AL2P olfactory receptor, family 5, subfamily AL, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79476 NG_004143,AP002512 pseudo 1354384 OR5AM1P olfactory receptor, family 5, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81226 NG_004211,AP002517 pseudo 1349496 OR5AN1 olfactory receptor, family 5, subfamily AN, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390195 NM_001004729,AB065806,AP002780,BK004508,CH471076,CS248368,BC140917 NP_001004729,BAC06025,DAA04906,EAW73842,CAJ56704,AAI40918,Q8NGI8 Hs.553755 OR11-244 olfactory receptor 5AN1|olfactory receptor OR11-244 protein-coding 1343737 OR5AN2P olfactory receptor, family 5, subfamily AN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81224 NG_004210,AP002358 pseudo 1348056 OR5AO1P olfactory receptor, family 5, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403272 NG_004427,AP001521 pseudo 1347292 OR5AP1P olfactory receptor, family 5, subfamily AP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81223 NG_004209,AP002517 pseudo 1350041 OR5AP2 olfactory receptor, family 5, subfamily AP, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17903294,12477932 338675 NM_001002925,AB065854,AP002517,CH471076,BC136989,BC136990 NP_001002925,BAC06072,EAW73720,AAI36990,AAI36991,Q8NGF4 Hs.449692 OR9J1 olfactory receptor 5AP2|olfactory receptor, family 9, subfamily J, member 1 protein-coding 1354171 OR5AQ1P olfactory receptor, family 5, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81221 NG_004208,AB065451,AB065593,AC068339,BK004580,BK004708 OR11-165 pseudo 1346704 OR5AR1 olfactory receptor, family 5, subfamily AR, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17903294,14983052,12477932 219493 NM_001004730,AB065740,AP004245,BK004401,CH471076,CS248302,BC140745 NP_001004730,BAC05961,DAA04799,EAW73721,CAJ56674,AAI40746,Q8NGP9 Hs.553633 OR11-209 olfactory receptor 5AR1|olfactory receptor OR11-209 protein-coding 1343270 OR5AS1 olfactory receptor, family 5, subfamily AS, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 219447 NM_001001921,AB065452,AB065543,AC068339,BK004344,CH471076,CS248354 NP_001001921,BAC05714,BAC05788,DAA04742,EAW73695,CAJ56697,Q8N127 Hs.553625 OR11-168 olfactory receptor 5AS1|olfactory receptor OR11-168 protein-coding 1343321 OR5AU1 olfactory receptor, family 5, subfamily AU, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,14983052,12213199 390445 NM_001004731,AB065898,AF399635,AL157687,BK004520,CH471078,BC137304,BC137305 NP_001004731,BAC06114,AAK95120,DAA04918,EAW66402,AAI37305,AAI37306,Q8NGC0 Hs.553768 OR14-38 olfactory receptor 5AU1|olfactory receptor OR14-38 protein-coding 1344437 OR5AW1P olfactory receptor, family 5, subfamily AW, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81076 NG_004158,AL135784 pseudo 1604183 OR5AZ1P olfactory receptor, family 5, subfamily AZ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 283193 AB065549,AF399500,AP003484,BK004802,NG_004207 pseudo 1354315 OR5B10P olfactory receptor, family 5, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 390186 NG_002306,U86223 OR13-34|OR13-64|OR13-67|OR5B10|OR5B11|OR5B11P|OR5B18P|OR5B4P pseudo 1354162 OR5B12 olfactory receptor, family 5, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 390191 NM_001004733,AB065851,AF399637,AP002345,BK004507,CH471076,CS248568,BC136947,BC136948 NP_001004733,BAC06069,AAK95122,DAA04905,EAW73806,CAJ56800,AAI36948,AAI36949,Q96R08 Hs.553754 OR11-241|OR5B12P|OR5B16|OST743 olfactory receptor 5B12|olfactory receptor 5B16|olfactory receptor OR11-241|olfactory receptor, family 5, subfamily B, member 12 pseudogene|olfactory receptor, family 5, subfamily B, member 16 protein-coding 1352210 OR5B15P olfactory receptor, family 5, subfamily B, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81215 NG_004206,AP002345 pseudo 1347466 OR5B17 olfactory receptor, family 5, subfamily B, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 219965 NM_001005489,AB065849,AP000435,BK004491,CH471076,CS248200 NP_001005489,BAC06067,DAA04889,EAW73803,CAJ56626,Q8NGF7 Hs.554517 OR11-237|OR5B20P olfactory receptor 5B17|olfactory receptor 5B20|olfactory receptor OR11-237|olfactory receptor, family 5, subfamily B, member 20 pseudogene protein-coding 1348349 OR5B19P olfactory receptor, family 5, subfamily B, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81211 NG_004205,AP000435 pseudo 1603460 OR5B1P olfactory receptor, family 5, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9500546 401692 NG_002305,AF399501 OR3-144|OR5B14P|OR5B5|OR5B5P|OR5B6|OR5B6P|OR5B7|OR5B7P|OR5B8|OR5B8P|OR5B9|OR5B9P|OR6-55|OR6-57|OR8-122|OR8-123|OR912-92 pseudo 1350221 OR5B2 olfactory receptor, family 5, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 390190 NM_001005566,AB065852,AF399636,AP002345,BK004505,CH471076,CS248570,BC136922,BC136923 NP_001005566,BAC06070,AAK95121,DAA04903,EAW73805,CAJ56801,AAI36923,AAI36924,Q96R09 Hs.553753 OR11-240|OST073 olfactory receptor 5B2|olfactory receptor OR11-240 protein-coding 1345076 OR5B21 olfactory receptor, family 5, subfamily B, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 219968 NM_001005218,AP003557 NP_001005218,A6NL26 Hs.553647 olfactory receptor 5B21 protein-coding 1354314 OR5B3 olfactory receptor, family 5, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 441608 NM_001005469,AB065545,AP002345,BK004506,CH471076,CS248572 Q8NH48,NP_001005469,BAC05790,DAA04904,EAW73804,CAJ56802 Hs.553826 OR11-239|OR5B13|OST129 olfactory receptor 5B13|olfactory receptor 5B3|olfactory receptor OR11-239|olfactory receptor, family 5, subfamily B, member 13 protein-coding 1343130 OR5BA1P olfactory receptor, family 5, subfamily BA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81210 NG_004204,AP003484 pseudo 1344363 OR5BB1P olfactory receptor, family 5, subfamily BB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81209 NG_004203,AP003778 pseudo 1345168 OR5BC1P olfactory receptor, family 5, subfamily BC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81208 NG_004202,AP000435 pseudo 1346829 OR5BD1P olfactory receptor, family 5, subfamily BD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79483 NG_002253,AC040925,AP003484 pseudo 1349508 OR5BE1P olfactory receptor, family 5, subfamily BE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81207 NG_004201,AC068339 pseudo 1353797 OR5BG1P olfactory receptor, family 5, subfamily BG, member 1 pseudogene 1343683 OR5BH1P olfactory receptor, family 5, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10737800 81075 NG_004157,AL135784 OR5BH2P pseudo 1350178 OR5BJ1P olfactory receptor, family 5, subfamily BJ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81047 NG_004156,AC090115 OST740 pseudo 1347786 OR5BK1P olfactory receptor, family 5, subfamily BK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 401718 NG_004391,AC024257 pseudo 1349347 OR5BL1P olfactory receptor, family 5, subfamily BL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81205 NG_004200,AP004247 pseudo 1348106 OR5BM1P olfactory receptor, family 5, subfamily BM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79491 NG_004145,AC026100 pseudo 1343020 OR5BN1P olfactory receptor, family 5, subfamily BN, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81204 NG_004199,AC068339,BK004605 OR11-161 pseudo 1604131 OR5BN2P olfactory receptor, family 5, subfamily BN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 504181 NG_004864,AC068339 pseudo 1605328 OR5BP1P olfactory receptor, family 5, subfamily BP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81203 NG_004198,AP001521 pseudo 1348137 OR5BQ1P olfactory receptor, family 5, subfamily BQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81202 NG_004197,AP002826 OR5BQ2P pseudo 1348955 OR5BR1P olfactory receptor, family 5, subfamily BR, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81201 NG_004196,AP002358 pseudo 1344145 OR5BS1P olfactory receptor, family 5, subfamily BS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390313 NG_004343,AC089987 OR5BS1 pseudo 1344310 OR5BT1P olfactory receptor, family 5, subfamily BT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282790 NG_004300,AC090115 pseudo 1604145 OR5C1 olfactory receptor, family 5, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 392391 NM_001001923,AB065725,AC006313,AF399514,BK004233,CH471090,BC136700,BC136701 NP_001001923,BAC05946,AAK94999,DAA04631,EAW87544,AAI36701,AAI36702,Q6IFM9,Q8NGR4 Hs.534761 OR5C2P|OR9-31|OR9-F hRPK-465_F_21|olfactory receptor 5C1|olfactory receptor 5C2|olfactory receptor 9-F|olfactory receptor, family 5, subfamily C, member 2 pseudogene protein-coding 1606314 OR5D11P olfactory receptor, family 5, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9500546 26351 NG_003230,AF399363,U86285 OR5D11|OR5D1P|OR8-125|OR8-127 pseudo 1348417 OR5D13 olfactory receptor, family 5, subfamily D, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390142 NM_001001967,AB065778,AC036111,BK004333,BK004394,CH471076,CS248326 NP_001001967,BAC05998,DAA04731,DAA04792,EAW73682,CAJ56686,Q8NGL4 Hs.553743 olfactory receptor 5D13|olfactory receptor OR11-142|olfactory receptor OR11-148 protein-coding 1350020 OR5D14 olfactory receptor, family 5, subfamily D, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 219436 NM_001004735,AB065779,AC036111,AF399523,BK004328,BK004393,CH471076,CS248328 NP_001004735,BAC05999,AAK95008,DAA04726,DAA04791,EAW73683,CAJ56687,Q8NGL3,AAI48381,AAI53006 Hs.553622 OR11-141|OR11-150 olfactory receptor 5D14|olfactory receptor OR11-141|olfactory receptor OR11-150 protein-coding 1347450 OR5D15P olfactory receptor, family 5, subfamily D, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81198 NG_004195,AC036111 pseudo 1352687 OR5D16 olfactory receptor, family 5, subfamily D, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 390144 NM_001005496,AB065783,AC036111,AF399524,BK004397,CH471076,CS248324 NP_001005496,BAC06003,AAK95009,DAA04795,EAW73687,CAJ56685,Q8NGK9,AAI48516,AAI53113 Hs.554527 OR11-154 olfactory receptor 5D16|olfactory receptor OR11-154 protein-coding 1350240 OR5D17P olfactory receptor, family 5, subfamily D, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81196 NG_004194,AC036111 pseudo 1345975 OR5D18 olfactory receptor, family 5, subfamily D, member 18 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219438 NM_001001952,AB065781,AC036111,AF399525,BK004329,BK004395,CH471076,CS248322,BC136925,BC136927 NP_001001952,BAC06001,AAK95010,DAA04727,DAA04793,EAW73685,CAJ56684,AAI36926,AAI36928,Q8NGL1 Hs.553624 OR11-143 olfactory receptor 5D18|olfactory receptor OR11-143|olfactory receptor OR11-152 protein-coding 1350614 OR5D2P olfactory receptor, family 5, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077,9500546 8595 NG_002277,AF065858,AF399362,AF399363,AP006437,U86246,U86247,U86248,U86249,U86250,U86285,U86287,U86288,U86296,U86297,U86298,U86300 OR11-7a|OR18-17|OR18-42|OR18-43|OR18-44|OR18-79|OR5D10P|OR5D11|OR5D11P|OR5D12|OR5D12P|OR5D1P|OR5D5P|OR5D6P|OR5D7P|OR5D8P|OR5D9P|OR8-125|OR8-127|OR912-47|OR912-91|OR912-94|R5D9P pseudo 1345537 OR5D3P olfactory receptor, family 5, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,9787077 8594 AF399364,AP006437,BK004331,CH471076,NG_002172,AF065860,AF065861 AAC70016,DAA04729,EAW73680,Q6IFD1,AAC70015 OR11-8b|OR11-8c|OR5D3|OR5D4 pseudo 1354065 OR5E1P olfactory receptor, family 5, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 633349,1580863 11705801,9119360 633349 26343 NR_027711,AB065769,AC044810,AF309702,CH471064,AF309699,X89671 BAC05989,EAW68644,CAA61818,Q15616,Q8NGM3 Hs.382973 HSTPCR24|OR5E1|TPCR24 pseudo 1351053 OR5F1 olfactory receptor, family 5, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9787077,14983052,12477932,12213199 338674 NM_003697,AF065863,AC068339,AF399527,BK004343,CH471076,CS248356,BC101239,BC101241,BC101242 NP_003688,AAC70017,AAK95012,DAA04741,EAW73694,CAJ56698,AAI01240,AAI01242,AAI01243,A0AUJ7,O95221 Hs.553702 OR11-10 olfactory receptor 11-10|olfactory receptor 5F1|olfactory receptor OR11-167 protein-coding 1353182 OR5F2P olfactory receptor, family 5, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81194 NG_004193,AC068339 pseudo 1348600 OR5G1P olfactory receptor, family 5, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9787077,9700185 8591 NG_002299,AF045576,AF065871,AP001803 OR11-104|OR5G2P|OR93|OR93HUM pseudo 1346393 OR5G3 olfactory receptor, family 5, subfamily G, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12730696 81193 NG_002406,AP001803 P0C626 OR5G3P|OR5G6P pseudo 1351453 OR5G4P olfactory receptor, family 5, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81192 NG_004192,AP001803 pseudo 1345936 OR5G5P olfactory receptor, family 5, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81191 NG_004191,AP001803 pseudo 1347725 OR5H1 olfactory receptor, family 5, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1370859 26341 NM_001005338,AC117460,CH471052,X64988 NP_001005338,EAW79869,A6NKK0,AAI48612 Hs.537383 HSHTPCRX14|HTPCRX14 olfactory receptor 5H1 protein-coding 1347228 OR5H14 olfactory receptor, family 5, subfamily H, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,14983052 403273 NM_001005514,AB065459,AC117460,CH471052,BC136984 NP_001005514,BAC05719,EAW79868,AAI36985,A6NHG9,Q8NHB6 Hs.719887,Hs.554714 olfactory receptor 5H14|olfactory receptor, family 5, subfamily H, member 14|seven transmembrane helix receptor protein-coding 1344642 OR5H15 olfactory receptor, family 5, subfamily H, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403274 NM_001005515,AC117460,CH471052 NP_001005515,EAW79867,A6NDH6 Hs.554713 olfactory receptor 5H15 protein-coding 1349856 OR5H2 olfactory receptor, family 5, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,19483685 79310 NM_001005482,AB065666,AC117473,BK004375,CH471052,CS248266 NP_001005482,BAC05892,DAA04773,EAW79865,CAJ56657,Q8NGV7 Hs.554711 OR3-10 OTTHUMP00000217455|olfactory receptor 5H2|olfactory receptor OR3-10 protein-coding 1353991 OR5H3P olfactory receptor, family 5, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 79309 NG_002237,AC117460,AC117473,BK004591 pseudo 1344827 OR5H4P olfactory receptor, family 5, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 79299 NG_002231,AC117460,AC117473,BK004592 OR3-5 pseudo 1342485 OR5H5P olfactory receptor, family 5, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 79297 NG_002230,AC117460,AC117473,BK004698 OR3-3 pseudo 1347959 OR5H6 olfactory receptor, family 5, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 79295 NM_001005479,AB065667,AC117460,BK004374,CH471052,CS248268,BC137523,BC137524 NP_001005479,BAC05893,DAA04772,EAW79866,CAJ56658,AAI37524,AAI37525,Q8NGV6 Hs.554712 OR3-11 OTTHUMP00000217453|olfactory receptor 5H6|olfactory receptor OR3-11 protein-coding 1353211 OR5H7P olfactory receptor, family 5, subfamily H, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 79291 NG_002228,AB065459,AC117460,AC117473,BK004589 OR3-6 pseudo 1347056 OR5H8P olfactory receptor, family 5, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12908129 79289 NG_002227,AB065460,AC117473,AY284071,BK004590 OR3-7 pseudo 1351255 OR5I1 olfactory receptor, family 5, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9787077,15489334,14983052,12477932,9017400 10798 NM_006637,AP003033,BK004518,CH471076,U56420,BC069093 NP_006628,DAA04916,EAW73691,AAB01214,AAH69093,Q13606 Hs.533706 HSOlf1|OLF1 olfactory receptor 5I1|olfactory receptor OR11-159|olfactory receptor-like protein OLF1 protein-coding 1603461 OR5J1P olfactory receptor, family 5, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199,10706615,1370859 401687 NG_004086,AB065655,AB065842,AC068339,AF179763,AF399354,BK004581 HTPCRH02|OR11-169|OR5J1 pseudo 1354256 OR5J2 olfactory receptor, family 5, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,1370859 282775 NM_001005492,AB065595,AP003034,BK004517,CH471076,CS248602,X64974 NP_001005492,BAC05823,DAA04915,EAW73703,CAJ56817,Q8NH18,AAI56210,AAI56953 Hs.537145 OR11-266 olfactory receptor 5J2|olfactory receptor OR11-266 protein-coding 1344902 OR5J7P olfactory receptor, family 5, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403276 NG_004428,AP003034 pseudo 1347070 OR5K1 olfactory receptor, family 5, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,1370859,12477932 26339 NM_001004736,AB065458,AC074274,CH471052,BC136918,BC136919,X64984,BK004416 NP_001004736,BAC05718,DAA04814,EAW79862,AAI36919,AAI36920,Q8NHB7,AAI46326,AAI48753 Hs.621533 HSHTPCRX10|HTPCRX10|OR3-8 olfactory receptor 5K1|olfactory receptor OR3-8 protein-coding 1345283 OR5K2 olfactory receptor, family 5, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16641997,14983052,12477932 402135 NM_001004737,AB065457,AC021660,BK004415,CH471052,CS248212,BC136724,BC136725 NP_001004737,BAC05717,DAA04813,EAW79861,CAJ56631,AAI36725,AAI36726,Q8NHB8 Hs.632558 OR3-9 olfactory receptor 5K2|olfactory receptor OR3-9 protein-coding 1347767 OR5K3 olfactory receptor, family 5, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403277 NM_001005516,AC108730,CH471052 NP_001005516,EAW79863,A6NET4 Hs.554709 olfactory receptor 5K3 protein-coding 1342893 OR5K4 olfactory receptor, family 5, subfamily K, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403278 NM_001005517,AC108730,AC117473,CH471052 NP_001005517,EAW79864,A6NMS3 Hs.554710 olfactory receptor 5K4 protein-coding 1345495 OR5L1 olfactory receptor, family 5, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,12477932 219437 NM_001004738,AB065780,AC022289,AC036111,BK004332,CH471076,CS248116,BC109249,BC109250,BC136939 NP_001004738,BAC06000,DAA04730,EAW73684,CAJ56585,AAI09250,AAI09251,AAI36940,Q8NGL2 Hs.553623 OR11-151|OST262 olfactory receptor 5L1|olfactory receptor OR11-151 protein-coding 1342923 OR5L2 olfactory receptor, family 5, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,1370859 26338 NM_001004739,AB065782,AC036111,AF399526,BK004396,CH471076,CS248320,X64990 NP_001004739,BAC06002,AAK95011,DAA04794,EAW73686,CAJ56683,Q8NGL0,AAI72290 Hs.528356 HSHTPCRX16|HTPCRX16|OR11-153 olfactory receptor 5L2|olfactory receptor OR11-153|olfactory receptor, family 5, subfamily L, member 1 protein-coding 1349395 OR5M1 olfactory receptor, family 5, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 390168 NM_001004740,AB065501,AB065742,AF399522,AP002517,BK004402,CH471076,CS248306 NP_001004740,BAC05751,BAC05962,AAK95007,DAA04800,EAW73719,CAJ56676,Q8NGP8,Q8NH86 Hs.553751 OR11-208|OST050 olfactory receptor 5M1|olfactory receptor OR11-208|seven transmembrane helix receptor protein-coding 1353504 OR5M10 olfactory receptor, family 5, subfamily M, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16554811,14983052,12477932 390167 NM_001004741,AP002517,BK004515,CH471076,CS248604,BC140733 NP_001004741,DAA04913,EAW73718,CAJ56818,AAI40734,Q6IEU7 Hs.553750 OR11-207 olfactory receptor 5M10|olfactory receptor OR11-207 protein-coding 1343585 OR5M11 olfactory receptor, family 5, subfamily M, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219487 NM_001005245,AF399521,AP002517,BK004656,CH471076,BC136951,BC136953 NP_001005245,AAK95006,EAW73717,AAI36952,AAI36954,Q96RB7 Hs.553632 OR11-199 olfactory receptor 5M11|olfactory receptor OR11-199 pseudogene protein-coding 1350071 OR5M12P olfactory receptor, family 5, subfamily M, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81188 NG_004190,AP002517 pseudo 1350377 OR5M13P olfactory receptor, family 5, subfamily M, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10706615 81187 NG_002281,AF179769 pseudo 1604783 OR5M14P olfactory receptor, family 5, subfamily M, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 81421 NG_004263,AC105389 OR5M15P pseudo 1345187 OR5M2P olfactory receptor, family 5, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79523 NG_004154,AP002512 OR11-193 pseudo 1353329 OR5M3 olfactory receptor, family 5, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219482 NM_001004742,AB065746,AF399518,AP002512,BK004498,CH471076,CS248160,BC136982,BC136983 NP_001004742,BAC05966,AAK95003,DAA04896,EAW73715,CAJ56607,AAI36983,AAI36984,Q8NGP4 Hs.553631 OR11-191 olfactory receptor 5M3|olfactory receptor OR11-191 protein-coding 1351815 OR5M4P olfactory receptor, family 5, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79518 NG_004152,AP002512 pseudo 1349304 OR5M5P olfactory receptor, family 5, subfamily M, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 390166 NG_004151,AB065743,AF399360,AP002512,BK004644,BK004652,BK004721 pseudo 1352049 OR5M6P olfactory receptor, family 5, subfamily M, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79512 NG_004150,AP002512 pseudo 1352287 OR5M7P olfactory receptor, family 5, subfamily M, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79508 NG_004149,AP002512 pseudo 1343653 OR5M8 olfactory receptor, family 5, subfamily M, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219484 NM_001005282,AB065744,AF399520,AP002512,BK004499,CH471076,CS248158,BC136978,BC136980 NP_001005282,BAC05964,AAK95005,DAA04897,EAW73716,CAJ56606,AAI36979,AAI36981,Q8NGP6 Hs.554522 OR11-194 olfactory receptor 5M8|olfactory receptor OR11-194 protein-coding 1347852 OR5M9 olfactory receptor, family 5, subfamily M, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 390162 NM_001004743,AB065747,AF399519,AP002512,BK004497,CH471076 NP_001004743,BAC05967,AAK95004,DAA04895,EAW73714,Q8NGP3,AAI40459,AAI48708 Hs.553749 OR11-190 olfactory receptor 5M9|olfactory receptor OR11-190 protein-coding 1346767 OR5P1P olfactory receptor, family 5, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79283 NG_004139,AC021427 pseudo 1344577 OR5P2 olfactory receptor, family 5, subfamily P, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,14983052,12477932,11705801 120065 NM_153444,AB065767,BK004322,CH471064,CS248198,AF173006,AF220494,BC101710,BC113557 NP_703145,BAC05987,DAA04720,EAW68646,CAJ56625,AAL32992,AAL32995,AAI01711,AAI13558,Q6IFE0,Q8WZ86,Q8WZ92,ADR83133 Hs.351824 JCG3|JCG4|MGC126759|MGC142117 olfactory receptor 5P2|olfactory receptor OR11-93|olfactory receptor-like protein JCG3 protein-coding 1352607 OR5P3 olfactory receptor, family 5, subfamily P, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,11705801 120066 NM_153445,AB065770,AF399366,BK004321,CH471064,CS248294,AF158377 NP_703146,BAC05990,DAA04719,EAW68645,CAJ56670,AAL32991,Q8WZ94,AAI41522 Hs.351825 JCG1 olfactory receptor 5P3|olfactory receptor OR11-94|olfactory receptor-like protein JCG1 protein-coding 1349329 OR5P4P olfactory receptor, family 5, subfamily P, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81185 NG_004189,AC021427 OST730 pseudo 1351573 OR5R1 olfactory receptor, family 5, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 219479 NM_001004744,AB065504,AP002512,BK004514,CH471076,CS248564 NP_001004744,BAC05752,DAA04912,EAW73713,CAJ56868,Q8NH85 Hs.553630 OR11-185|OR5R1P olfactory receptor 5R1|olfactory receptor OR11-185|olfactory receptor, family 5, subfamily R, member 1 pseudogene protein-coding 1353442 OR5S1P olfactory receptor, family 5, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 391496 NG_004369,AC013469 pseudo 1354464 OR5T1 olfactory receptor, family 5, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390155 NM_001004745,AB065962,AC022882,BK004336,CH471076,CS248594,BC136992,BC136993 NP_001004745,BAC06174,DAA04734,EAW73706,CAJ56813,AAI36993,AAI36994,Q8NG75 Hs.553747 OR11-179|OR5T1P olfactory receptor 5T1|olfactory receptor OR11-179|olfactory receptor, family 5, subfamily T, member 1 pseudogene protein-coding 1347254 OR5T2 olfactory receptor, family 5, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 219464 NM_001004746,AB065838,AC022882,BK004334,CH471076,BC136876 NP_001004746,BAC06057,DAA04732,EAW73704,AAI36877,Q8N1H0,Q8NGG2 Hs.553627 OR11-177 olfactory receptor 5T2|olfactory receptor OR11-177 protein-coding 1351333 OR5T3 olfactory receptor, family 5, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 390154 NM_001004747,AB065837,AC022882,BK004335,CH471076 NP_001004747,BAC06056,DAA04733,EAW73705,Q8NGG3 Hs.553746 OR11-178|OR5T3Q olfactory receptor 5T3|olfactory receptor OR11-178 protein-coding 1348304 OR5V1 olfactory receptor, family 5, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17684544,14983052,14574404,12637542,12477932,19833159,19851445,20205591 81696 NM_030876,AL096770,AL662781,AL732432,BK004440,BX927232,CH471081,AJ459859,BC069149,BX005133,CR759808 NP_110503,CAB65797,CAI18131,CAI17829,DAA04838,CAQ08989,EAX03189,CAD31042,AAH69149,Q9UGF6,AAI48488 Hs.666316 6M1-21|hs6M1-21 OTTHUMP00000029285|OTTHUMP00000108530|olfactory receptor 5V1|olfactory receptor OR6-26 protein-coding 1350624 OR5W1P olfactory receptor, family 5, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81182 NG_004188,AC036111 OR11-144 pseudo 1342811 OR5W2 olfactory receptor, family 5, subfamily W, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 20379614,14983052,12213199 390148 NM_001001960,AB065520,AC036111,AF399355,BK004398,CH471076 NP_001001960,BAC05768,DAA04796,EAW73690,Q8NH69 Hs.554526 OR5W2P|OR5W3P olfactory receptor 5W2|olfactory receptor 5W3|olfactory receptor OR11-155|olfactory receptor, family 5, subfamily W, member 3 pseudogene protein-coding 1605112 OR6A2 olfactory receptor, family 6, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 20608641,9787077,15489334,14983052,12477932,11416212 8590 NM_003696,AB065822,AC002555,AC087280,AF065870,AF321237,BK004427,CH471064,BC101489,BC101491 NP_003687,BAC06041,AAC70018,AAG45208,DAA04825,EAW68676,AAI01490,AAI01492,O95222 Hs.652252 I7|MGC126538|MGC126540|OR11-55|OR6A1|OR6A2P hI7 olfactory receptor|hP2 olfactory receptor|olfactory receptor 11-55|olfactory receptor 6A1|olfactory receptor 6A2|olfactory receptor OR11-83|olfactory receptor, family 6, subfamily A, member 1|olfactory receptor, family 6, subfamily A, member 2 pseudogene|seven transmembrane helix receptor protein-coding 1351550 OR6B1 olfactory receptor, family 6, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12853948,12213199,12477932 135946 NM_001005281,AC004853,AF399605,BK004216,CH236959,BC137042,BC137047 NP_001005281,AAK95090,DAA04614,EAL23796,AAI37043,AAI37048,O95007 Hs.632031 OR7-3|OR7-9 olfactory receptor 6B1|olfactory receptor 7-3|olfactory receptor OR7-9 protein-coding 1348824 OR6B2 olfactory receptor, family 6, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 389090 NM_001005853,AB065663,AC013469,BK004288,CH471063,BC065821,BC137561,BC137562 NP_001005853,BAC05889,DAA04686,EAW71176,AAI37562,AAI37563,Q6IFH4 Hs.531343 OR2-1|OR6B2P OTTHUMP00000201600|olfactory receptor 6B2|olfactory receptor OR2-1|olfactory receptor, family 6, subfamily B, member 2 pseudogene protein-coding 1350028 OR6B3 olfactory receptor, family 6, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 150681 CH471063,NM_173351,AB065662,BK004289 DAA04687,EAW71177,Q8NGW1,NP_775486,BAC05888 Hs.626616 OR6B3P|OR6B3Q olfactory receptor 6B3|olfactory receptor OR2-2|olfactory receptor, family 6, subfamily B, member 3 pseudogene protein-coding 1342545 OR6C1 olfactory receptor, family 6, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16541075,12213199,20677014,12477932 390321 NM_001005182,AC122684,AF399506,CH471054,BC136957,BC136965 NP_001005182,AAK94991,EAW96806,AAI36958,AAI36966,Q96RD1 Hs.553763 OST267 olfactory receptor 6C1 protein-coding 1604704 OR6C2 olfactory receptor, family 6, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10706615,16541075 341416 NM_054105,AC122685,AF179766 NP_473446,AAF40351,Q9NZP2,AAI48631 Hs.524483 OR6C67 HSA3|olfactory receptor 6C2 protein-coding 1343219 OR6C3 olfactory receptor, family 6, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 10706615,16541075 254786 NM_054104,AC122684,AF179770,CH471054 NP_473445,AAF40353,EAW96807,Q9NZP0,AAI48525,AAI53120 Hs.553653 OST709 HSA8|olfactory receptor 6C3 protein-coding 1345773 OR6C4 olfactory receptor, family 6, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,7509350,1316921,12477932 341418 NM_001005494,AB065869,AC009779,BK004261,CH471054,CS248574,L19282,L19287,BC137000,BC137001,M87866 NP_001005494,BAC06087,DAA04659,EAW96815,CAJ56803,AAA20162,AAA20165,AAI37001,AAI37002,AAA61072,Q8NGE1 Hs.495021,Hs.554552 OR12-10 olfactory receptor 6C4|olfactory receptor OR12-10 protein-coding 1352046 OR6C5P olfactory receptor, family 6, subfamily C, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390320 NG_004345,AC122684 pseudo 1352413 OR6C6 olfactory receptor, family 6, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 283365 NM_001005493,AC122684 NP_001005493,A6NF89 Hs.554555 olfactory receptor 6C6 protein-coding 1347665 OR6C64P olfactory receptor, family 6, subfamily C, member 64 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403281 AC122685,NG_004429 pseudo 1349043 OR6C65 olfactory receptor, family 6, subfamily C, member 65 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12477932 403282 NM_001005518,AC125816,CH471054,BC136897,BC136899 NP_001005518,EAW96810,AAI36898,AAI36900,A6NJZ3 Hs.554553 olfactory receptor 6C65 protein-coding 1351296 OR6C66P olfactory receptor, family 6, subfamily C, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403283 NG_004430,AC125816 pseudo 1347505 OR6C68 olfactory receptor, family 6, subfamily C, member 68 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403284 NM_001005519,AC122685,CH471054 NP_001005519,EAW96814,A6NDL8 Hs.626886 olfactory receptor 6C68 protein-coding 1342577 OR6C69P olfactory receptor, family 6, subfamily C, member 69 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403285 NG_004431,AC122684 pseudo 1346205 OR6C70 olfactory receptor, family 6, subfamily C, member 70 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390327 NM_001005499,AC122685,CH471054 NP_001005499,EAW96813,A6NIJ9 Hs.632718 olfactory receptor 6C70 protein-coding 1342600 OR6C71P olfactory receptor, family 6, subfamily C, member 71 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390324 NG_004347,AC125816 pseudo 1347303 OR6C72P olfactory receptor, family 6, subfamily C, member 72 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403288 NG_004432,AC122684 pseudo 1351208 OR6C73P olfactory receptor, family 6, subfamily C, member 73 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403289 NG_004433,AC125816 pseudo 1350920 OR6C74 olfactory receptor, family 6, subfamily C, member 74 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 254783 NM_001005490,AC122684,CH471054,BC140754 NP_001005490,EAW96805,AAI40755,A6NCV1 Hs.554556 olfactory receptor 6C74 protein-coding 1353505 OR6C75 olfactory receptor, family 6, subfamily C, member 75 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390323 NM_001005497,AC125816,CH471054 NP_001005497,EAW96808,A6NL08 Hs.554554 olfactory receptor 6C75 protein-coding 1350278 OR6C76 olfactory receptor, family 6, subfamily C, member 76 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390326 NM_001005183,AC125816,CH471054 NP_001005183,EAW96811,A6NM76 Hs.553764 olfactory receptor 6C76 protein-coding 1347271 OR6C7P olfactory receptor, family 6, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390322 NG_004346,AC125816 pseudo 1603536 OR6D1P olfactory receptor, family 6, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 220974 NG_004293,AF399475,AL512324,XM_003118471 XP_003118519 OR6D2P pseudo 1349555 OR6E1P olfactory receptor, family 6, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 79323 NG_002244,AF399346,AL160314 pseudo 1352611 OR6F1 olfactory receptor, family 6, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12908129,12213199,12477932 343169 BK004460,BK004745,CH471148,CS248402,BC137142,BC137143,NM_001005286,AB065619,AC118470,AF399604,AY284133 DAA04858,EAW77199,CAJ56721,AAI37143,AAI37144,Q8NGZ6,NP_001005286,BAC05846,AAK95089 Hs.591529 OR1-34|OR1-38|OST731 olfactory receptor 6F1|olfactory receptor OR1-34 pseudogene|olfactory receptor OR1-38 protein-coding 1350971 OR6J1 olfactory receptor, family 6, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79549 NG_002274,AB065892,AC023226 BAC06108,Q8NGC5 OR6J1P|OR6J2 pseudo 1348899 OR6K1P olfactory receptor, family 6, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81449 NG_004271,AL513205 pseudo 1352681 OR6K2 olfactory receptor, family 6, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 81448 NM_001005279,AB065634,AL513205,BK004196,CH471121,CS248418,BC137022,BC137023 NP_001005279,BAC05860,CAH73787,DAA04594,EAW52815,CAJ56729,AAI37023,AAI37024,Q8NGY2 Hs.554489 OR1-17 olfactory receptor 6K2|olfactory receptor OR1-17 protein-coding 1352543 OR6K3 olfactory receptor, family 6, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,14983052 391114 NM_001005327,AB065633,AL513205,BK004197,CH471121 NP_001005327,BAC05859,CAH73788,DAA04595,EAW52814,Q8NGY3 Hs.554488 OR1-18 OTTHUMP00000024379|olfactory receptor 6K3|olfactory receptor OR1-18|seven transmembrane helix receptor protein-coding 1344692 OR6K4P olfactory receptor, family 6, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11181995 128370 AB065632,CH471121,NG_004288,AL513205 BAC05858,EAW52813,Q8NGY4 pseudo 1343868 OR6K5P olfactory receptor, family 6, subfamily K, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 391115 NG_004363,AL513205 pseudo 1351378 OR6K6 olfactory receptor, family 6, subfamily K, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16710414,14983052,12477932 128371 NM_001005184,AB065650,AL513205,BK004198,CH471121,BC140743 NP_001005184,BAC05876,CAH73791,DAA04596,EAW52811,AAI40744,Q8NGW6 Hs.553591 OR1-21 OTTHUMP00000024381|olfactory receptor 6K6|olfactory receptor OR1-21 protein-coding 1346436 OR6L1P olfactory receptor, family 6, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 8782825 390012 NG_002282,AL161645 pseudo 1349290 OR6L2P olfactory receptor, family 6, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81356 NG_004252,AL161645 pseudo 1344052 OR6M1 olfactory receptor, family 6, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 12477932,14983052,12908129,12213199 390261 NM_001005325,AB065762,AF399606,AP000868,AY284165,BK004493,CH471065,CS248202,BC136929,BC136931 NP_001005325,BAC05982,AAK95091,DAA04891,EAW67556,CAJ56627,AAI36930,AAI36932,Q8NGM8 Hs.557924 OR11-271 olfactory receptor 6M1|olfactory receptor OR11-271|olfactory receptor, family 6, subfamily M, member 2 pseudogene protein-coding 1349437 OR6M2P olfactory receptor, family 6, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79546 NG_004155,AP000868 pseudo 1352678 OR6M3P olfactory receptor, family 6, subfamily M, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79321 NG_004140,AP000868 pseudo 1347518 OR6N1 olfactory receptor, family 6, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052,12213199,12477932 128372 NM_001005185,AB065631,AF399608,AL513205,BK004199,CH471121,CS248108,BC146847 NP_001005185,BAC05857,AAK95093,CAH73792,DAA04597,EAW52810,CAJ56581,AAI46848,Q6IFR3,Q8NGY5 Hs.553592 OR1-22 olfactory receptor 6N1|olfactory receptor OR1-22 protein-coding 1350201 OR6N2 olfactory receptor, family 6, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 81442 NM_001005278,AB065630,AL513205,BK004200,CH471121,CS248420 BAC05856,CAH73793,EAW52809,CAJ56730,Q8NGY6,DAA04598,NP_001005278 Hs.554487 OR1-23 olfactory receptor 6N2|olfactory receptor OR1-23 protein-coding 1347277 OR6P1 olfactory receptor, family 6, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16939646,16710414,14983052 128366 NM_001160325,AB065637,AL160283,BK004193 NP_001153797,BAC05863,CAH72416,DAA04591,Q8NGX9 Hs.723122 olfactory receptor 6P1|olfactory receptor OR1-12|seven transmembrane helix receptor protein-coding 1352757 OR6Q1 olfactory receptor, family 6, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219952 NM_001005186,AB065737,AF399609,AP003401,BK004291,CH471076,CS248226,BC151146,BC151147 NP_001005186,BAC05958,AAK95094,DAA04689,EAW73795,CAJ56638,AAI51147,AAI51148,Q8NGQ2 Hs.690432 OR11-226 olfactory receptor 6Q1|olfactory receptor OR11-226 protein-coding 1343962 OR6R1P olfactory receptor, family 6, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81440 NG_004270,AC099571 pseudo 1343419 OR6R2P olfactory receptor, family 6, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403294 NG_004434,AC129925 pseudo 1348726 OR6S1 olfactory receptor, family 6, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 341799 NM_001001968,AB065561,AL163636,BK004263,CH471078,CS248264 NP_001001968,BAC05799,DAA04661,EAW66452,CAJ56656,Q8NH40 Hs.513132 OR14-37|OR6S1Q olfactory receptor 6S1|olfactory receptor OR14-37 protein-coding 1344490 OR6T1 olfactory receptor, family 6, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 219874 NM_001005187,AB065759,AC019108,AP002407,BK004315,CH471065,CS248094,BC136906 NP_001005187,BAC05979,DAA04713,EAW67562,CAJ56574,AAI36907,Q8NGN1 Hs.553638 OR11-277 olfactory receptor 6T1|olfactory receptor OR11-277 protein-coding 1345888 OR6U2P olfactory receptor, family 6, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390329 NG_004348,AC009779 OR6U1P pseudo 1345347 OR6V1 olfactory receptor, family 6, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12732197,12690205,12477932 346517 NM_001001667,AB065697,AB065873,AC099652,BK004392,CH236959,CH471198,CS248340,BC137044 NP_001001667,BAC05920,BAC06091,DAA04790,EAL23780,EAW51889,CAJ56692,AAI37045,Q8N148 Hs.554721 GPR138 olfactory receptor 6V1|olfactory receptor OR7-3 protein-coding 1350213 OR6W1P olfactory receptor, family 6, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,12213199 89883 NR_002140,AB065875,AB065957,AC099652,AF399607,CH236959,AF286696,BC069382,BC074961,BC074962 BAC06093,BAC06170,Q8NG79,Q8NGD8 Hs.339818 OR6W1|sdolf pseudo 1349187 OR6X1 olfactory receptor, family 6, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 390260 NM_001005188,AB065510,AP000868,BK004362,CH471065,CS248142,BC136855,BC136856 NP_001005188,BAC05758,DAA04760,EAW67555,CAJ56598,AAI36856,AAI36857,Q8NH79 Hs.553759 OR11-270 olfactory receptor 6X1|olfactory receptor OR11-270 protein-coding 1347188 OR6Y1 olfactory receptor, family 6, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 16710414,14983052 391112 CH471121,CS248228,NM_001005189,AB065638,AL365440,BK004192 DAA04590,EAW52823,CAJ56639,Q8NGX8,NP_001005189,BAC05864,CAH70563 Hs.553780 OR1-11|OR6Y2 olfactory receptor 6Y1|olfactory receptor 6Y2|olfactory receptor OR1-11 protein-coding 1604685 OR7A10 olfactory receptor, family 7, subfamily A, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 15057824,14983052,12213199 390892 NM_001005190,AC005255,AF399542,BK004222,CH471106 NP_001005190,AAC25627,AAK95027,DAA04620,EAW84451,O76100 Hs.553776 BC85395_3|OR19-18 OST027|olfactory receptor 7A10|olfactory receptor OR19-18 protein-coding 1349363 OR7A11P olfactory receptor, family 7, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26669 NG_002215,AC004659 OR7A11|OST527 pseudo 1351094 OR7A15P olfactory receptor, family 7, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9500546 26335 NG_002311,AF399435,U86253,U86254,U86256 OR19-1|OR19-134|OR19-146|OR7A16P|OR7A20P|OR7A4P pseudo 1318908 OR7A17 olfactory receptor, family 7, subfamily A, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,15057824,14983052,12477932,12213199,1370859 26333 NM_030901,AC002988,AC005255,AF399541,BK004206,CH471106,BC101587,BC117357,X64993 NP_112163,AAB82060,AAC25628,AAK95026,DAA04604,EAW84453,AAI01588,AAI17358,O14581,Q9UEB1,ADR82902 Hs.247717 BC85395_4|HTPCRX19|MGC126636 olfactory receptor 7A17|olfactory receptor OR19-20|olfactory receptor, family 7, subfamily A, member 17 protein-coding 1348742 OR7A18P olfactory receptor, family 7, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81081 NG_002278,AC002988 pseudo 1352801 OR7A19P olfactory receptor, family 7, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 387853 NG_004313,AC008035 pseudo 1346902 OR7A1P olfactory receptor, family 7, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390895 NG_004361,AC002988 OLF4p|OR19-3|OR7A6P|hg513 pseudo 1351275 OR7A2P olfactory receptor, family 7, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 15057824,12213199 390894 NG_004087,AB065924 BAC06139,Q8NGA2 OLF4p|OR19-18|OR7A2|OR7A7|hg1003 pseudo 1343369 OR7A3P olfactory receptor, family 7, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077,9500546 26668 NG_002170,AC098791,AF065859 OR11-7b|OR14-11|OR14-59|OR19-12|OR7A12P|OR7A13P|OR7A14|OR7A14P pseudo 1353918 OR7A5 olfactory receptor, family 7, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9119360,15489334,15057824,14983052,12477932,12213199,9268701,1370859 26659 NM_017506,AC005255,AF399543,BK004221,CH471106,Y10530,AK312475,BC104809,X64976,X89677 NP_059976,AAC25626,AAK95028,DAA04619,EAW84450,CAA71558,BAG35379,AAI04810,CAA61824,Q15622 Hs.137573,Hs.690626 HTPCR2 olfactory receptor 7A5|olfactory receptor OR19-17|olfactory receptor TPCR92|olfactory receptor, family 7, subfamily A, member 5 pseudogene protein-coding 1353515 OR7A8P olfactory receptor, family 7, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 26661 NG_003166,AF399434 HG83|OR19-11|OR7A9P|OST042 pseudo 1343510 OR7C1 olfactory receptor, family 7, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9268701,15057824,14983052,12477932,12213199,9119360 26664 NM_198944,AC005255,AF399546,BK004220,BC117212,X89676 ADR83145,NP_945182,AAC25625,AAK95031,DAA04618,AAI17213,CAA61823,O76099,Q17RS1 Hs.466053 CIT-HSP-146E8|HSTPCR86P|OR19-5|OR7C4|TPCR86 olfactory receptor 7C1|olfactory receptor 7C4|olfactory receptor OR19-16|olfactory receptor TPCR86|olfactory receptor, family 7, subfamily C, member 4 protein-coding 1344773 OR7C2 olfactory receptor, family 7, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15057824,14983052,12477932,12213199,9500546 26658 NM_012377,AC004659,AF399545,BK004213,CH471106,U86255,BC110063 NP_036509,AAC15755,AAK95030,DAA04611,EAW84455,AAC39626,O60412,AAI40247,AAI41625 Hs.589620 CIT-HSP-87M17|OR19-18|OR7C3 olfactory receptor 19-18|olfactory receptor 7C2|olfactory receptor 7C3|olfactory receptor OR19-22|olfactory receptor, family 7, subfamily C, member 3 protein-coding 1346100 OR7D11P olfactory receptor, family 7, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403295 NG_005822,AC011464 pseudo 1347515 OR7D1P olfactory receptor, family 7, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 26656 NG_002212,U86251 OR19-131|OR19-A|OR7D3|OR7D3P pseudo 1353359 OR7D2 olfactory receptor, family 7, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,14702039,12213199,1370859,12175488 162998 AB065928,AC011464,AF399537,BK004265,CH471106,CS248310,AK095468,X64975,NM_175883 BAC06143,AAK95022,DAA04663,EAW84017,CAJ56678,BAC04554,Q96RA2,AAI41585,NP_787079 Hs.531755 FLJ38149|HTPCRH03|OR19-10|OR19-4 olfactory receptor 19-4|olfactory receptor 7D2|olfactory receptor OR19-10 protein-coding 1346280 OR7D4 olfactory receptor, family 7, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17873857,14983052,12213199,12477932 125958 NM_001005191,AB065929,AC011464,AF399429,BK004226,CH471106,CS248314,EU049291,BC137147,BC137162,NG_027953 NP_001005191,BAC06144,DAA04624,EAW84021,CAJ56680,ABV66282,AAI37148,AAI37163,Q8NG98 Hs.446910 OR19-7|OR19-B|OR19B|OR7D4P|hg105 odorant receptor family 7 subfamily D member 4 RT|odorant receptor family subfamily D member 4RT|olfactory receptor 7D4|olfactory receptor OR19-7|olfactory receptor, family 7, subfamily D, member 4 pseudogene protein-coding 1604782 OR7E100P olfactory receptor, family 7, subfamily E, member 100 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81430 NG_004266,AC092692 OR7E135P pseudo 1348151 OR7E101P olfactory receptor, family 7, subfamily E, member 101 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81138 NG_004175,AL138686,AL157365 pseudo 1347846 OR7E102P olfactory receptor, family 7, subfamily E, member 102 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 400984 NG_004385,AC009237 OR7E102 pseudo 1605615 OR7E104P olfactory receptor, family 7, subfamily E, member 104 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81137 NG_004174,AL445238,AL137719 Hs.568153 pseudo 1351798 OR7E105P olfactory receptor, family 7, subfamily E, member 105 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 81116 NG_004171,AB065878,AF399405,AL079307,BK004809 Q8NGD7 OR14-NP1 pseudo 1349640 OR7E106P olfactory receptor, family 7, subfamily E, member 106 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 81115 NG_004170,AF399387,AL079307 OR14-NP2|OR7E34P|OR7E40P|OST011|OST215 pseudo 1353689 OR7E108P olfactory receptor, family 7, subfamily E, member 108 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81363 NG_004254,AL354862,AL446024 OST726 pseudo 1349880 OR7E109P olfactory receptor, family 7, subfamily E, member 109 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 401540 NG_004386,AF399394,AL446024 OR7E113P|OST721 pseudo 1342642 OR7E10P olfactory receptor, family 7, subfamily E, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077 10823 NG_002183,AC068587,AF399403 OR11-1 pseudo 1352117 OR7E110P olfactory receptor, family 7, subfamily E, member 110 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81354 NG_004251,AL360083 OR7E68P|OR7E71P|OR7E72P|OR7E73P|OR7E74P|OR7E75P|OR912-108|OR912-109|OR912-110|OR912-46|hg523|hg674 pseudo 1605616 OR7E111P olfactory receptor, family 7, subfamily E, member 111 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81136 NG_004173,AL353580 pseudo 1349029 OR7E115P olfactory receptor, family 7, subfamily E, member 115 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 81353 NG_004692,AF399411,AL157391,BK004797 OR10-2|OST704 pseudo 1343886 OR7E116P olfactory receptor, family 7, subfamily E, member 116 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 81358 NG_004253,AF399421,AL389888 OR7E112P|OST733 pseudo 1351088 OR7E117P olfactory receptor, family 7, subfamily E, member 117 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 399857 NG_004384,AC060812 OST716 pseudo 1354022 OR7E11P olfactory receptor, family 7, subfamily E, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9787077 10822 NG_002181,AF065853,AP003385 OR11-2|OR7E144P pseudo 1605781 OR7E121P olfactory receptor, family 7, subfamily E, member 121 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 402133 NG_004395,AC108724 pseudo 1353733 OR7E122P olfactory receptor, family 7, subfamily E, member 122 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81428 NG_004265,AC034187 OST719 pseudo 1352731 OR7E125P olfactory receptor, family 7, subfamily E, member 125 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 11705801 389616 NG_004256,AB065482,AF228730,AF359416 BAC05735,Q8NHA0,Q8NHA1 Hs.457899 PJCG6 pseudo 1605612 OR7E126P olfactory receptor, family 7, subfamily E, member 126 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077,7566098 81176 NG_002280,AB065487,AF065852,AP000719,AF399380 OR11-1|hg500 pseudo 1605613 OR7E128P olfactory receptor, family 7, subfamily E, member 128 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81175 NG_004186,AP002495 pseudo 1342530 OR7E129P olfactory receptor, family 7, subfamily E, member 129 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 391576 NG_004264,AB065488,AC083906,AF399416 pseudo 1344637 OR7E12P olfactory receptor, family 7, subfamily E, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077 10821 NG_002179,AC123788,AF065854,AF399383 HG1058|OR11-3|OR7E58P|OR7E79P|OR7E81P|OST021 pseudo 1350838 OR7E130P olfactory receptor, family 7, subfamily E, member 130 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 389144 NG_004314,AF186996 OST702 pseudo 1350111 OR7E136P olfactory receptor, family 7, subfamily E, member 136 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 155340 NG_004291,AC079804 OR7E139P|OR7E147P pseudo 1347472 OR7E138P olfactory receptor, family 7, subfamily E, member 138 pseudogene 282730 1354415 OR7E13P olfactory receptor, family 7, subfamily E, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,11705801,9787077 10820 NG_002177,AF065855,AF399398,AF238487 Hs.684491 OR11-4|OR7E44P|OST022|PJCG2 pseudo 1343275 OR7E140P olfactory receptor, family 7, subfamily E, member 140 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932 344729 NG_004309,AC092865 pseudo 1351380 OR7E145P olfactory receptor, family 7, subfamily E, member 145 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390215 NG_004336,AP003385 pseudo 1352217 OR7E148P olfactory receptor, family 7, subfamily E, member 148 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282801 NG_004303,AC092865 OR7E150P pseudo 1350242 OR7E149P olfactory receptor, family 7, subfamily E, member 149 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282756 NG_004297,AC092865 pseudo 1346579 OR7E14P olfactory receptor, family 7, subfamily E, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9787077,12477932 10819 NG_002175,AC116533,AF065856,BC008657 AAH08657,Q6PK25 Hs.523504 OR11-5|OR7E151P pseudo 1348707 OR7E154P olfactory receptor, family 7, subfamily E, member 154 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14702039 403296 NG_004634,AC084121,AB065483,AK122996,AX645923 BAC05736,CAD69097 Hs.457899 FLJ16768 pseudo 1344575 OR7E155P olfactory receptor, family 7, subfamily E, member 155 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403297 NG_004435,AL731858 pseudo 1353945 OR7E156P olfactory receptor, family 7, subfamily E, member 156 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14702039,12477932 283491 NR_002171,AL445989,AK097469,AK097490,AK097573,BC113028,BC113029 Hs.363054,Hs.694575 pseudo 1345998 OR7E157P olfactory receptor, family 7, subfamily E, member 157 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403219 NG_004633,AC134684 pseudo 1343587 OR7E158P olfactory receptor, family 7, subfamily E, member 158 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 392194 NG_004376,AC107918 pseudo 1345051 OR7E159P olfactory receptor, family 7, subfamily E, member 159 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403299 NG_004436,AL079307 pseudo 1605113 OR7E15P olfactory receptor, family 7, subfamily E, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077 8588 NG_002168,AC068587,AF399386 OR11-392|OR7E42P|OR7E80P|OST001 pseudo 1348777 OR7E160P olfactory receptor, family 7, subfamily E, member 160 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402333 NG_004399,AC107918,AC130366 pseudo 1348210 OR7E161P olfactory receptor, family 7, subfamily E, member 161 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 389626 NG_004315,AC107918 pseudo 1606626 OR7E162P olfactory receptor, family 7, subfamily E, member 162 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 442101 NG_004863,AC147876,AF399373 OR7E77|OR7E77P|OST060 pseudo 1345255 OR7E16P olfactory receptor, family 7, subfamily E, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 26473 NG_002189,U86252 OR19-133|OR19-9|OR7E17P|OR7E60P pseudo 1353005 OR7E18P olfactory receptor, family 7, subfamily E, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9119360 390885 NG_004360,AC006271,X89673 CAA61820,Q15618 Hs.381327 HSTPCR26P|OR19-14|OR7E61|OR7E98P|TPCR26 pseudo 1346922 OR7E19P olfactory receptor, family 7, subfamily E, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9119360 26651 NG_002356,AC006271,X89668 AAD03354,Q15613,Q9UPJ0 Hs.537315 HSCIT-B-440L2|OR19-7|OR7E65|TPCR11|tpcr110 pseudo 1348693 OR7E1P olfactory receptor, family 7, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 341128 NG_004307,AC004923 pseudo 1344049 OR7E20P olfactory receptor, family 7, subfamily E, member 20 pseudogene 10036190 9434 1344405 OR7E21P olfactory receptor, family 7, subfamily E, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10036190 9432 NG_004123,AC083906 OR4DG|OR7E127P|OR7E141P|OR7E142P|OR7E49P|OST035 pseudo 1606324 OR7E22P olfactory receptor, family 7, subfamily E, member 22 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10036190,9817916 9431 NG_004122,AC131233 OR3.6|OR6DG pseudo 1348348 OR7E23P olfactory receptor, family 7, subfamily E, member 23 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,10830953 391279 NG_004368,AF399396,AP000275 OR21-1|OR21-3|OR7E92P pseudo 1351971 OR7E24 olfactory receptor, family 7, subfamily E, member 24 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 15057824,14983052,12213199,11385110,9268701,12477932 26648 NM_001079935,AC006271,AF399400,BK004227,BC146920,Y10529 NP_001073404,AAD03353,DAA04625,AAI46921,CAA71557,O43789,Q6IFN5,AAI56696 Hs.129832 HSHT2|OR19-8|OR7E24P|OR7E24Q olfactory receptor 7E24|olfactory receptor OR19-14 protein-coding 1342582 OR7E25P olfactory receptor, family 7, subfamily E, member 25 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26647 NG_004132,AC011464 CIT-B-440L2|OR19-12|OR19-C pseudo 1351518 OR7E26P olfactory receptor, family 7, subfamily E, member 26 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9500546 401637 NG_002315,AF399375,AF399384,AL157391,U86217,U86218,U86219,U86290,U86291,U86292,U86293,U86295,U86301 OR1-51|OR1-72|OR1-73|OR7E67P|OR7E68P|OR7E69P|OR7E70P|OR7E71P|OR7E72P|OR7E73P|OR7E74P|OR7E75P|OR912-108|OR912-109|OR912-110|OR912-46|OR912-95|hg523|hg674 pseudo 1353861 OR7E28P olfactory receptor, family 7, subfamily E, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 26645 NG_004131,AC064843 OR7E107P|OR7E133P|OR7E27P|OST128|hg616 pseudo 1352158 OR7E29P olfactory receptor, family 7, subfamily E, member 29 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 26644 NG_004130,AF186996,AF399389 OR7E30P|OST032|OST339 pseudo 1347286 OR7E2P olfactory receptor, family 7, subfamily E, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077 8587 NG_002166,AF065857,AF399424 OR11-6|OR7E143P|OR7E51P|OR7E52P|OR7F2P|OST245|hg94 pseudo 1349154 OR7E31P olfactory receptor, family 7, subfamily E, member 31 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932,12213199 375601 NG_004666,AF399390,AL389888,BK004731 MGC72080|OR7E114P|OR7E32P|OR7E45P|OR9-4|OST016|OST049|OST205 pseudo 1605398 OR7E33P olfactory receptor, family 7, subfamily E, member 33 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26640 NG_002211,AC055823 hg688 pseudo 1345032 OR7E35P olfactory receptor, family 7, subfamily E, member 35 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 9847074 391632 NG_004371,AC098976,AF073924 AAF72204,Q9P1R1 Hs.404129 OR7E120|OST018 pseudo 1342630 OR7E36P olfactory receptor, family 7, subfamily E, member 36 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26637 NG_004129,AL731858 OR7E119P|OST024 pseudo 1351584 OR7E37P olfactory receptor, family 7, subfamily E, member 37 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,8889549 26636 AF399393,AL354833,AI081342,NR_002163,AL731858 Hs.507861 OR7E48P|OST193|hg533 pseudo 1347274 OR7E38P olfactory receptor, family 7, subfamily E, member 38 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 389537 NG_002209,AC004967,AF399392,CH236956,AA042813,AA626037,AA938905,AI766441,AI805592,AI949299,AW874308 Hs.655977 OR7E76|OST127 pseudo 1349306 OR7E39P olfactory receptor, family 7, subfamily E, member 39 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9847074 253933 NG_004294,AC079882,AF399377 OR7E138P|hg611 pseudo 1348285 OR7E41P olfactory receptor, family 7, subfamily E, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077,9500546 8583 AF065867,AF399425,U86286,NG_002158,AC090835 OR11-20|OR7E50P|OR7E95P|OR7F6P|OR8-126|hg84 pseudo 1347082 OR7E43P olfactory receptor, family 7, subfamily E, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 26475 NG_002191,U86267 OR4-116|OR7E124P|OST712 pseudo 1352665 OR7E46P olfactory receptor, family 7, subfamily E, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 402077 NG_004394,AC007881 MCEEP|OST379 pseudo 1346572 OR7E47P olfactory receptor, family 7, subfamily E, member 47 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,8647456 26628 NG_004128,AC078864,BC042060,X87825 Hs.524431 OR7E141 pseudo 1353999 OR7E4P olfactory receptor, family 7, subfamily E, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077 8585 NG_002162,AB065524,AF065864,AF399418 OR11-11a|OR7E9P|OR7F4P|OST289 pseudo 1343431 OR7E53P olfactory receptor, family 7, subfamily E, member 53 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 26478 NG_002316,U86261,U86262 OR3-142|OR3-143|OR7E132P|OR7E78|OR7E78P pseudo 1343489 OR7E55P olfactory receptor, family 7, subfamily E, member 55 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 391548 NG_004370,AC139453 OR2DG|OR3.2|OR7E56P|OR7E57P|OST007|OST013 pseudo 1347133 OR7E59P olfactory receptor, family 7, subfamily E, member 59 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9847074 402249 NG_004398,AC079804,AF399374 OR7E137P|OR7E59|OST119 pseudo 1342787 OR7E5P olfactory receptor, family 7, subfamily E, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This family member is believed to be a pseudogene. [provided by RefSeq] 1580863 14983052,14702039,12213199,9787077 219445 NR_027688,AB065945,AF065865,AF399402,AP003033,BK004660,CH471076,AK055955 BAC06158,EAW73693 Hs.350816 FLJ31393|OR11-12|OR11-156|OR7F5P pseudo 1353519 OR7E62P olfactory receptor, family 7, subfamily E, member 62 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9500546 26479 NG_002317,U86257,U86258,U86259,U86260 OR2-4|OR2-52|OR2-53|OR2-75|OR7E62|OR7E63|OR7E63P|OR7E64|OR7E64P|OR7E82P pseudo 1352476 OR7E66P olfactory receptor, family 7, subfamily E, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,10036190,9817916 26614 NG_004127,AC117481,AC131233,AF399382 OR3.3|OR3DG|OR7E20P|OR7E6P|hg630 pseudo 1350690 OR7E7P olfactory receptor, family 7, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 392752 NG_002208,AC004967 pseudo 1350161 OR7E83P olfactory receptor, family 7, subfamily E, member 83 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 391630 NG_002251,AC097493,AC116655 OR7E134P pseudo 1342786 OR7E84P olfactory receptor, family 7, subfamily E, member 84 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 390288 NG_002276,AC097493,AC116655 OR7E54P|OST185 pseudo 1353761 OR7E85P olfactory receptor, family 7, subfamily E, member 85 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 442105 AC097493,AC116655,AA704815,AW009208,NG_002249,AB065455 Q8NHB9,BAC05716 Hs.503150 OR7E118P|OR7E88P pseudo 1351852 OR7E86P olfactory receptor, family 7, subfamily E, member 86 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 442104 NG_002248,AB065942,AC097493,AC116655 BAC06156,Q8NG89,Q8NH97 pseudo 1345003 OR7E87P olfactory receptor, family 7, subfamily E, member 87 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,9787077 8586 NG_002164,AB065550,AF065862,AP000867,BK004803 BAC05793,Q8NH46 OR11-261|OR11-9|OR7E3P|OR7F3P pseudo 1347102 OR7E89P olfactory receptor, family 7, subfamily E, member 89 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79540 NG_002272,AC069348 pseudo 1343516 OR7E8P olfactory receptor, family 7, subfamily E, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 346708 NG_002207,AB065485,AB065553,AC068587,AF399408 OR11-11a pseudo 1344790 OR7E90P olfactory receptor, family 7, subfamily E, member 90 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79537 NG_002271,AC069348 OR7E123P|OST705 pseudo 1352609 OR7E91P olfactory receptor, family 7, subfamily E, member 91 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932,9847074 79315 NR_002185,AC007040,CH471053,BC014374,BC030991 EAW99781,EAW99782 Hs.327033 pseudo 1354227 OR7E93P olfactory receptor, family 7, subfamily E, member 93 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79282 NG_002225,AC069047 OR7E131P pseudo 1350325 OR7E94P olfactory receptor, family 7, subfamily E, member 94 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79273 NG_002221,AC013662,AC092542 pseudo 1604141 OR7E96P olfactory receptor, family 7, subfamily E, member 96 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 401450 NG_004629,AC105233 pseudo 1352513 OR7E97P olfactory receptor, family 7, subfamily E, member 97 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79492 NG_002256,AF061779 pseudo 1351989 OR7E99P olfactory receptor, family 7, subfamily E, member 99 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 81419 NG_004262,AC011744 pseudo 1350658 OR7G1 olfactory receptor, family 7, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 125962 NM_001005192,AB065926,AC011464,AF399538,BK004267 NP_001005192,BAC06141,AAK95023,DAA04665,Q8NGA0 OR19-15|OR19-8|OR7G1P olfactory receptor 19-15|olfactory receptor 7G1|olfactory receptor OR19-8 protein-coding 1345965 OR7G15P olfactory receptor, family 7, subfamily G, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403300 NG_004437,AC011464 pseudo 1348157 OR7G2 olfactory receptor, family 7, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12213199 390882 NM_001005193,AB065927,AC011464,AF399539,BK004268,CH471106,CS248316 NP_001005193,BAC06142,AAK95024,DAA04666,EAW84007,CAJ56681,Q8NG99 Hs.553774 OR19-6|OST260 OR19-13|olfactory receptor 19-13|olfactory receptor 7G2|olfactory receptor OR19-6 protein-coding 1345338 OR7G3 olfactory receptor, family 7, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 390883 NM_001001958,AB065932,AC011464,AF399540,BK004266,CS248312 NP_001001958,BAC06147,AAK95025,DAA04664,CAJ56679,Q8NG95 Hs.553775 OST085 olfactory receptor 7G3|olfactory receptor OR19-9 protein-coding 1604686 OR7H1P olfactory receptor, family 7, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199 390886 NG_002205,AC006271 OR7H1 pseudo 1349931 OR7H2P olfactory receptor, family 7, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403301 NG_004438,AC113416 pseudo 1348532 OR7K1P olfactory receptor, family 7, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81114 NG_004167,AL132827 pseudo 1345471 OR7L1P olfactory receptor, family 7, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79499 NG_002258,AL109853 pseudo 1353731 OR7M1P olfactory receptor, family 7, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81352 NG_004250,AL161645 pseudo 1349349 OR8A1 olfactory receptor, family 8, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,14983052,12477932 390275 NM_001005194,AB065833,AF399512,AP000916,BK004495,CH471065,AY726592,BC137194,BC137197 NP_001005194,BAC06052,AAK94997,DAA04893,EAW67586,EAW67587,AAI37195,AAI37198,Q8NGG7 Hs.632104 OR11-318|OST025 olfactory receptor 8A1|olfactory receptor OR11-318 protein-coding 1353251 OR8A2P olfactory receptor, family 8, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390273 NG_004341,AP000916 pseudo 1350816 OR8A3P olfactory receptor, family 8, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403302 NG_004439,AP000916 pseudo 1342881 OR8B10P olfactory receptor, family 8, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390274 NG_004342,AP000916 pseudo 1350337 OR8B12 olfactory receptor, family 8, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219858 NM_001005195,AB065834,AF399511,AP000916,BK004494,CH471065,CS248182,BC136863,BC136864 NP_001005195,BAC06053,AAK94996,DAA04892,EAW67585,CAJ56618,AAI36864,AAI36865,Q8NGG6 Hs.553634 OR11-317 olfactory receptor 8B12|olfactory receptor OR11-317 protein-coding 1605114 OR8B1P olfactory receptor, family 8, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199,9787077 8582 NG_002156,AB065540 OR11-561|OR8B11P pseudo 1350735 OR8B2 olfactory receptor, family 8, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 26595 NM_001005468,AB065826,AB065829,AC002556,AF399508,AP001804,BK004203,BK004500,CH471065,CS248236 NP_001005468,BAC06045,BAC06048,AAK94993,DAA04601,DAA04898,EAW67580,CAJ56643,Q8NGG9,Q96RD0 Hs.576944 OR11-309|OR11-310 olfactory receptor 8B2|olfactory receptor OR11-309|olfactory receptor OR11-310 protein-coding 1354454 OR8B3 olfactory receptor, family 8, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390271 NM_001005467,AB065827,AB065830,AC002556,AP001804,BK004204,CH471065 NP_001005467,BAC06046,BAC06049,DAA04602,EAW67581,Q8NGG8 Hs.690456 OR11-311 olfactory receptor 8B3|olfactory receptor OR11-311 protein-coding 1342821 OR8B4 olfactory receptor, family 8, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 283162 NM_001005196,AB065831,AC002556,AF399509,AP000916,AP001804,BK004205,CH471065,CS248238,BC136865,BC136866 NP_001005196,BAC06050,AAK94994,DAA04603,EAW67582,CAJ56644,AAI36866,AAI36867,Q96RC9 Hs.553671 OR11-315|OR8B4P olfactory receptor 8B4|olfactory receptor OR11-315|olfactory receptor, family 8, subfamily B, member 4 pseudogene protein-coding 1352095 OR8B5P olfactory receptor, family 8, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26592 NG_002204,AC002556 pseudo 1345960 OR8B6P olfactory receptor, family 8, subfamily B, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26591 NG_002203,AC002556 pseudo 1348989 OR8B7P olfactory receptor, family 8, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 26590 NG_002202,AC002556 OR8B13P pseudo 1347370 OR8B8 olfactory receptor, family 8, subfamily B, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 633349,1580863 9119360,14983052,12213199,11705801,12477932 633349 26493 NM_012378,AB065832,AF399510,BK004496,CH471065,AF238488,BC130393,BC130419,X89675 NP_036510,BAC06051,AAK94995,DAA04894,EAW67583,AAL32997,AAI30394,AAI30420,CAA61822,Q15620,Q6IEW6,ADR82899 Hs.351822 TPCR85 olfactory receptor 8B8|olfactory receptor OR11-316|olfactory receptor TPCR85|olfactory-like receptor JCG8 protein-coding 1345147 OR8B9P olfactory receptor, family 8, subfamily B, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10706615 79316 NG_002322,AF179764,AF179765 pseudo 1352903 OR8C1P olfactory receptor, family 8, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9787077,9500546 8580 NG_002154,AF065872,U86289 OR11-175|OR8C3P|OR8C4P|OR912-106|OR912-45 pseudo 1350153 OR8D1 olfactory receptor, family 8, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,11705801,12477932 283159 NM_001002917,AB065828,AC002556,AP001804,BK004501,CH471065,CS248232,AF238489,BC136950,BC136954 NP_001002917,BAC06047,DAA04899,EAW67578,CAJ56641,AAL32998,AAI36951,AAI36955,Q8WZ84 Hs.504211 JCG9|OR8D3|OST004|PDJ9J14 olfactory receptor 8D1|olfactory receptor 8D3|olfactory receptor OR11-301|olfactory receptor, family 8, subfamily D, member 3|olfactory receptor-like protein JCG9|olfactory-like receptor JCG9 protein-coding 1354280 OR8D2 olfactory receptor, family 8, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,11705801,12477932 283160 NM_001002918,AC002556,AF162669,AP001804,BK004202,CH471065,AF162668,BC137043,BC137045 NP_001002918,AAG43387,DAA04600,EAW67579,AAG43386,AAI37044,AAI37046,Q9GZM6 Hs.504212 JCG2 olfactory receptor 8D2|olfactory receptor OR11-303|olfactory receptor-like protein JCG2 protein-coding 1319573 OR8D4 olfactory receptor, family 8, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 338662 NM_001005197,AB065761,AC019108,AP002407,BK004313,CH471065,CS248090,BC137180,BC137206 NP_001005197,BAC05981,DAA04711,EAW67560,CAJ56572,AAI37181,AAI37207,Q8NGM9 Hs.449688 OR11-275 olfactory receptor 8D4|olfactory receptor OR11-275 protein-coding 1345538 OR8F1P olfactory receptor, family 8, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 390269 NG_004340,AP000818 pseudo 1346948 OR8G1 olfactory receptor, family 8, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 633349 9119360,14983052,12213199 633349 26494 NM_001002905,AB065946,AF399507,BK004423,CH471065,X89672 NP_001002905,BAC06159,AAK94992,DAA04821,EAW67576,CAA61819,Q15617,AAI40353,AAI46495 Hs.728066,Hs.448172 HSTPCR25|OR8G1P|TPCR25 olfactory receptor 8G1|olfactory receptor OR11-281|olfactory receptor TPCR25|olfactory receptor, family 8, subfamily G, member 1 pseudogene protein-coding 1353161 OR8G2 olfactory receptor, family 8, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 633349 9119360,14983052,12477932 633349 26492 NM_001007249,AB065943,AB065947,AB065948,AP002965,BK004424,BK004426,CH471065,BC136638,BC136639,X89669 NP_001007250,BAC06157,BAC06160,BAC06161,DAA04822,DAA04824,EAW67575,AAI36639,AAI36640,CAA61816,Q15614,Q6IF36,Q8N0Y1,Q8NG87 Hs.381319 HSTPCR120|OR8G2P|OR8G4|ORL206|ORL486|TPCR120 olfactory receptor 8G2|olfactory receptor 8G4|olfactory receptor OR11-292|olfactory receptor OR11-297|olfactory receptor TPCR120|olfactory receptor, family 8, subfamily G, member 2 pseudogene|olfactory receptor, family 8, subfamily G, member 4|seven transmembrane helix receptor protein-coding 1342721 OR8G3P olfactory receptor, family 8, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 387815 NG_004312,AP002965 pseudo 1352593 OR8G5 olfactory receptor, family 8, subfamily G, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 219865 NM_001005198,AB065958,AP002965,BK004516,CH471065,BC136820,BC136822 NP_001005198,BAC06171,DAA04914,EAW67577,AAI36821,AAI36823,Q8NG78 Hs.722725 OR11-298|OR8G5P|OR8G6 olfactory receptor 8G5|olfactory receptor 8G6|olfactory receptor OR11-298|olfactory receptor, family 8, subfamily G, member 5 pseudogene|olfactory receptor, family 8, subfamily G, member 6 protein-coding 1345447 OR8G7P olfactory receptor, family 8, subfamily G, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282786 NG_004628,AP002965 pseudo 1348854 OR8H1 olfactory receptor, family 8, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12477932 219469 NM_001005199,AB065836,AC022882,BK004337,CH471076,CS248134,BC136909,BC136910 NP_001005199,BAC06055,DAA04735,EAW73707,CAJ56594,AAI36910,AAI36911,Q8NGG4 Hs.553628 OR11-180 olfactory receptor 8H1|olfactory receptor OR11-180 protein-coding 1346035 OR8H2 olfactory receptor, family 8, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390151 NM_001005200,AB065657,AB065845,AC068339,BK004341,CH471076,CS248362 NP_001005200,BAC05883,BAC06063,DAA04739,EAW73698,CAJ56701,Q8N162 Hs.553744 OR11-171 olfactory receptor 8H2|olfactory receptor OR11-171 protein-coding 1348145 OR8H3 olfactory receptor, family 8, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 390152 NM_001005201,AB065658,AB065840,AC068339,BK004345,CH471076,CS248364 NP_001005201,BAC05884,BAC06059,DAA04743,EAW73699,CAJ56702,Q8N146 Hs.553745 OR11-172 olfactory receptor 8H3|olfactory receptor OR11-172 protein-coding 1350267 OR8I1P olfactory receptor, family 8, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 79498 NG_004147,AC022882 pseudo 1352416 OR8I2 olfactory receptor, family 8, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932,20379614 120586 BC137008,NM_001003750,AB065656,AB065844,AC068339,AF399513,BK004342,CH471076,CS248360,BC137007 Q8N0Y5,AAI37009,NP_001003750,BAC05882,BAC06062,AAK94998,DAA04740,EAW73697,CAJ56700,AAI37008 Hs.554524 OR11-170 olfactory receptor 8I2|olfactory receptor OR11-170 protein-coding 1353612 OR8I4P olfactory receptor, family 8, subfamily I, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403303 NG_004635,AC068339 pseudo 1348514 OR8J1 olfactory receptor, family 8, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 219477 NM_001005205,AB065748,AF399515,AP002512,BK004340,CH471076,CS248136,BC137066,BC137067 NP_001005205,BAC05968,AAK95000,DAA04738,EAW73710,CAJ56595,AAI37067,AAI37068,Q8NGP2 Hs.626841 OR11-183 olfactory receptor 8J1|olfactory receptor OR11-183 protein-coding 1346057 OR8J2 olfactory receptor, family 8, subfamily J, member 2 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 16554811,12730696,18989455 81169 NG_004185,AC022882 Q8NGG1 OR8J2P pseudo 1342544 OR8J3 olfactory receptor, family 8, subfamily J, member 3 1580863 14983052,12213199 81168 NM_001004064,AB065841,AF399516,AP003034,BK004346,CH471076 NP_001004064,BAC06060,AAK95001,DAA04744,EAW73701,Q8NGG0 Hs.554523 OR11-173 olfactory receptor 8J3|olfactory receptor OR11-173 protein-coding 1347124 OR8K1 olfactory receptor, family 8, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199,12477932 390157 NM_001002907,AB065835,AC022882,AF399517,BK004339,CH471076,CS248130,BC146844 NP_001002907,BAC06054,AAK95002,DAA04737,EAW73709,CAJ56592,AAI46845,Q8NGG5 Hs.553748 OR11-182|OR8N1P olfactory receptor 8K1|olfactory receptor OR11-182|olfactory receptor, family 8, subfamily N, member 1 pseudogene protein-coding 1346153 OR8K2P olfactory receptor, family 8, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79494 NG_004146,AC022882 pseudo 1342730 OR8K3 olfactory receptor, family 8, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 219473 NM_001005202,AB065541,AC022882,BK004338,CH471076,CS248132 NP_001005202,BAC05786,DAA04736,EAW73708,CAJ56593,Q8NH51 Hs.553629 OR11-181 olfactory receptor 8K3|olfactory receptor OR11-181 protein-coding 1342981 OR8K4P olfactory receptor, family 8, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81166 NG_004184,AP003034 pseudo 1351237 OR8K5 olfactory receptor, family 8, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052 219453 NM_001004058,AB065542,AP003034,BK004347,CH471076,CS248366,CS248600 NP_001004058,BAC05787,DAA04745,EAW73702,CAJ56703,CAJ56816,Q8NH50 Hs.553626 OR11-174 olfactory receptor 8K5|olfactory receptor OR11-174 protein-coding 1348371 OR8L1P olfactory receptor, family 8, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 81164 NG_004183,AP002512,BK004720 OR11-115 pseudo 1343193 OR8Q1P olfactory receptor, family 8, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81163 NG_004182,AP000916 pseudo 1605614 OR8R1P olfactory receptor, family 8, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81162 NG_004181,AP002761 pseudo 1351418 OR8S1 olfactory receptor, family 8, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 20677014 341568 NM_001005203,AB065604,AC089987 NP_001005203,BAC05832,Q8NH09 Hs.524373 olfactory receptor 8S1 protein-coding 1349416 OR8S21P olfactory receptor, family 8, subfamily S, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403304 NG_005823,AC090115 pseudo 1352267 OR8T1P olfactory receptor, family 8, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282791 NG_004301,AC090115 pseudo 1353375 OR8U1 olfactory receptor, family 8, subfamily U, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 219417 NM_001005204,AB065603,AP002512,CH471076 NP_001005204,BAC05831,EAW73700,Q8NH10 Hs.553618 olfactory receptor 8U1 protein-coding 1601900 OR8U8 olfactory receptor, family 8, subfamily U, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 504189 NM_001013356,AADD01115766,AC213240,CH471076 NP_001013374,EAW73711,P0C7N1,AAI48575,AAI53151 olfactory receptor 8U8 protein-coding 1601899 OR8U9 olfactory receptor, family 8, subfamily U, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 504190 NM_001013357,AADD01115766,CH471076 NP_001013375,EAW73712,P0C7N5 olfactory receptor 8U9 protein-coding 1344141 OR8V1P olfactory receptor, family 8, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 282776 NG_004299,AC022882,AP003034 OR11-267 pseudo 1343242 OR8X1P olfactory receptor, family 8, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403305 AP001804,NG_004440 pseudo 1348783 OR9A1P olfactory receptor, family 9, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1370859 26495 NG_002195,AB065690,AC011654,CH236950,X64982 Q8NGU1 Hs.544835 HSHTPCRX06|HTPCRX06|OR9A1|OR9A5P olfactory receptor, family 9, subfamily a, member 1, pseudogene pseudo 1348029 OR9A2 olfactory receptor, family 9, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12908129,12732197,12477932 135924 NM_001001658,AB065696,AB065874,AC099652,AY284261,BK004391,CH236959,CH471198,BC137048,BC137049 NP_001001658,BAC05919,BAC06092,DAA04789,EAL23779,EAW51890,AAI37049,AAI37050,Q8NGT5 Hs.553594 olfactory receptor 9A2|olfactory receptor OR7-2 protein-coding 1343778 OR9A3P olfactory receptor, family 9, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12853948,12213199 392106 NG_004372,AC073647,AF399476,CH236950 OR9A6P pseudo 1352661 OR9A4 olfactory receptor, family 9, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12690205,12477932 130075 NM_001001656,AB065689,AC073647,BK004278,CH236950,CH471070,CS248584,BC136819,BC136821 NP_001001656,BAC05912,DAA04676,EAL24013,EAW83990,CAJ56808,AAI36820,AAI36822,Q8NGU2 Hs.690171 olfactory receptor 9A4|olfactory receptor OR7-1 protein-coding 1342549 OR9G1 olfactory receptor, family 9, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 17903294,14983052 390174 NM_001005213,AB065500,AP004245,BK004511,CH471076 NP_001005213,BAC05750,DAA04909,EAW73722,Q6IEV1,Q8NH87,AAI46362 Hs.553752 OR9G5 olfactory receptor 9G1|olfactory receptor 9G5|olfactory receptor OR11-114|olfactory receptor OR11-210|olfactory receptor, family 9, subfamily G, member 5 protein-coding 1346262 OR9G2P olfactory receptor, family 9, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81160 NG_004180,AP001803 OR9G6 pseudo 1344100 OR9G3P olfactory receptor, family 9, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81159 NG_004179,AP001803 pseudo 1349445 OR9G4 olfactory receptor, family 9, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 17903294,14983052,12213199 283189 NM_001005284,AB065738,AF399530,AP001803,BK004400,CH471076 NP_001005284,BAC05959,AAK95015,DAA04798,EAW73725,Q8NGQ1 Hs.554521 OR11-216 olfactory receptor 9G4|olfactory receptor OR11-216 protein-coding 1601898 OR9G9 olfactory receptor, family 9, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 17903294 504191 NM_001013358,AADD01115779,AP004245,CH471076 NP_001013376,EAW73723,P0C7N8 Hs.553752 olfactory receptor 9G9 protein-coding 1350629 OR9H1P olfactory receptor, family 9, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12975309 81439 NG_004269,AL450999,AY358215 Hs.446996 UNQ9373 pseudo 1345505 OR9I1 olfactory receptor, family 9, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 14983052,12213199 219954 CS248104,NM_001005211,AB065733,AF399531,AP004247,BK004292,CH471076 CAJ56579,Q8NGQ6,NP_001005211,BAC05954,AAK95016,DAA04690,EAW73796 Hs.632122 OR11-228 olfactory receptor 9I1|olfactory receptor OR11-228 protein-coding 1347420 OR9I2P olfactory receptor, family 9, subfamily I, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 10706615 81156 AF179762,AP004247,NG_002279 pseudo 1348710 OR9I3P olfactory receptor, family 9, subfamily I, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81155 NG_004178,AP004247 OST714 pseudo 1353472 OR9K1P olfactory receptor, family 9, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052 121360 NG_004285,AB065863,AC027287,BK004576 OR12-4 pseudo 1345121 OR9K2 olfactory receptor, family 9, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14983052,12477932 441639 NM_001005243,AB065862,AC027287,BK004326,BC136988 NP_001005243,BAC06080,DAA04724,AAI36989,Q8NGE7 Hs.553827 OR12-2 olfactory receptor 9K2|olfactory receptor OR12-2 protein-coding 1607004 OR9L1P olfactory receptor, family 9, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79301 NG_002233,AP004247 OR9L2P pseudo 1353131 OR9M1P olfactory receptor, family 9, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81153 NG_004177,AB065784,AC036111 OR5BG1P pseudo 1352278 OR9N1P olfactory receptor, family 9, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12853948 81383 AC073647,CH236950,NG_004258 pseudo 1348578 OR9P1P olfactory receptor, family 9, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 9847074 81382 NG_004257,AC099652,CH236959 OR9P2P pseudo 1349735 OR9Q1 olfactory receptor, family 9, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 1580863 15489334,12477932,12213199 219956 NM_001005212,AB065734,AF399532,AP003401,AP003484,AP004247,CH471076,BC110819 NP_001005212,BAC05955,AAK95017,EAW73797,AAI10820,Q8NGQ5 Hs.689841 MGC131737 olfactory receptor 9Q1 protein-coding 1351092 OR9Q2 olfactory receptor, family 9, subfamily Q, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12477932 219957 NM_001005283,AB065859,AP004247,AX646375,CH471076,BC140718 NP_001005283,BAC06077,CAD69316,EAW73798,AAI40719,Q8NGE9 Hs.553643 OR9Q2P olfactory receptor 9Q2|olfactory receptor, family 9, subfamily Q, member 2 pseudogene protein-coding 1344431 OR9R1P olfactory receptor, family 9, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 81140 NG_004176,AC027287 pseudo 1347898 OR9S24P olfactory receptor, family 9, subfamily S, member 24 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 403275 NG_005821,AC013469 OR5J6P pseudo 1606201 ORAI1 ORAI calcium release-activated calcium modulator 1 CRACM1 is a plasma membrane protein essential for store-operated calcium entry (Vig et al., 2006 [PubMed 16645049]).[supplied by OMIM] 16645049,16733527,16766533,16807233,19433061,19366689,19289460,19260825,19249086,19228695,19189966,19185847,19182790,19171672,19088073,19075015,18995841,18845811,18843204,18832420,18768920,18644792,18569867,18542992,18506892,18448669,18436303,18420579,18403424,18400989,18326500,18250319,18239188,18190941,18187424,18096706,18006576,17991693,17968026,17702753,17684017,17452328,20395295,20887894,17442569,17400243,17360584,17224452,17218358,17045966,16978865,16921383,16582901,16147976,15489334,14702039,12477932,17905723,19403622,19429662,19447651,19487696,19506081,19622747,19675303,19706554,19754898,19843011,19887627,19965684,20004786,20007711,20018736,20037597,20073506,20194792,20354224,20194530,20961852,20587595,16341674,20534587 84876 NM_032790,NG_007500,AC140062,CH471054,AK027372,BC013386,BC015369,BC075831,BC104633,BG574128,BG775018,BM762473,BM847154,CR616901,CR618487,CR622003 NP_116179,EAW98269,EAW98270,BAB55068,AAH13386,AAH15369,AAH75831,AAI04634,Q96D31 Hs.55148 CRACM1|FLJ14466|ORAT1|TMEM142A calcium release-activated calcium channel protein 1|calcium release-activated calcium modulator 1|protein orai-1|transmembrane protein 142A protein-coding 1320982 ORAI2 ORAI calcium release-activated calcium modulator 2 12477932,9847074,16169070,18403424,17452328,16807233,16582901,16344560,15498874,15489334,14702039,12853948,19506081,19706554 80228 NM_032831,AC093668,CH471197,AF258552,AK022536,AK027639,AK056497,AK128753,AK300574,BC009183,BC016797,NM_001126340,BC069270,CR457287,DA770788,Y10777 NP_001119812,NP_116220,AAP22351,AAP22352,EAW50244,EAW50245,EAW50246,EAW50247,EAW50248,AAG23755,BAB55256,BAG62276,AAH69270,CAG33568,Q96SN7 Hs.363308 C7orf19|CBCIP2|FLJ12474|FLJ14733|FLJ44818|MEM142B|TMEM142B CAP-binding protein complex interacting protein 2|CAP-binding protein complex-interacting protein 2|H_NH0514P08.8|OTTHUMP00000212415|OTTHUMP00000212418|OTTHUMP00000212419|OTTHUMP00000212421|chromosome 7 open reading frame 19|protein orai-2|putative protein ORAI2-2|transmembrane protein 142B protein-coding 1602192 ORAI3 ORAI calcium release-activated calcium modulator 3 20395295,18499656,18420579,18403424,17991693,17452328,16582901,15489334,12477932,19506081,19706554,19887627,20354224 93129 NM_152288,AC135048,CH471192,AK298276,BC006126,BC015555,BC016150,BC022786,BI561433 NP_689501,EAW52185,EAW52186,BAG60537,AAH06126,AAH15555,AAH22786,Q9BRQ5 Hs.460617 MGC13024|TMEM142C protein orai-3|transmembrane protein 142C protein-coding 1312190 ORAOV1 oral cancer overexpressed 1 19493886,18688849,17005439,15489334,12477932,12172009,20105337,20453838 220064 AK311918,BC006448,BC019024,BC065542,EF639695,NM_153451,AP001888,CH471076,AF503940,AK026600,AK125280,AK126490,AK294004 BAG34859,AAH19024,AAH65542,ABR37294,Q8WV07,BAG57366,NP_703152,EAW74749,EAW74750,AAM97902 Hs.667996 TAOS1 oral cancer overexpressed 1|oral cancer overexpressed protein 1-A protein-coding 1350406 ORC1L origin recognition complex, subunit 1-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. [provided by RefSeq] 1580863 18029348,20800603,17716973,7502077,11931757,15232106,17474147,12791985,10436018,11095689,11125146,12045100,15226314,15684404,15707391,19197067,18761675,17081983,17066079,16710414,15454574,12912926,12909627,12909626,12614612,12477932,11809796,11779870,11716535,11323433,10954718,10681582,10523313,10438470,9566895,8943353,8884289,12393188,15342556,16344560 4998 NM_004153,AL513218,CH471059,AK291909,AK303420,BC011539,CR594568,CR619175,U40152,U43416,BP280383,DB156841,NM_001190818,NM_001190819 NP_004144,CAI12288,EAX06783,EAX06784,BAF84598,BAH13956,AAH11539,AAC50325,AAA86260,Q13415,Q96F82,NP_001177747,NP_001177748 Hs.17908 HSORC1|ORC1|ORC1L|PARC1 origin recognition complex 1|origin recognition complex subunit 1|origin recognition complex, subunit 1 homolog|origin recognition complex, subunit 1, S. cerevisiae, homolog-like|origin recognition complex, subunit 1-like|replication control protein 1 protein-coding 1323514 ORC2L origin recognition complex, subunit 2-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3L, -4L, and -5L. It also interacts with CDC45L and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. [provided by RefSeq] 1580863 8808289,11095689,12791985,10436018,11125146,11931757,12045100,15226314,15684404,15707391,16762929,16407251,15910003,15489334,15232106,12912926,12897055,12614612,12477932,12393188,12364596,11779870,11602595,11509178,11395502,11323433,10954718,10835370,10523313,10402192,9765232,9733749,9660782,9353276,7502077,17716973,16428461,11046155,12441400,15342556,16344560,17525332,18001825,18761675 4999 NM_006190,AC005037,AY652588,CH471063,AK302614,BC014834,BM470184,CA448165,CR596826,U27459,U40268,AI033876,AK316433,BP264347,DA111542,DA545257,NR_033915 NP_006181,AAY14725,AAT46690,EAW70228,EAW70229,BAG63861,AAH14834,AAB33970,AAC50326,Q13416,ABM85709,BAH14804 Hs.444870 ORC2|ORC2L origin of replication 2-like|origin recognition complex protein 2 homolog|origin recognition complex subunit 2|origin recognition complex, subunit 2 homolog|origin recognition complex, subunit 2-like protein-coding 1318236 ORC3L origin recognition complex, subunit 3-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq] 1580863 9829972,15232106,17525332,12791985,10402192,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,19074885,15910003,15489334,14702039,12614612,12477932,11395502,11323433,11230166,10954718,10702681,9373149,8125298,20800603,8889548,17716973,18628273,12441400,18761675 23595 NM_181837,NM_012381,AL133211,AL451126,AY623113,CH471051,AF093535,AF125507,AF135044,AK094135,AK222795,AK302750,AK303056,AK303182,AK303195,AK315911,AK316298,AL080116,BC035494,BC047689,CR456814,CR608982,CR618350,CR619723,U50950,BF215571,BM971022,DC395106,NM_001197259 NP_862820,NP_036513,CAI21539,CAI10900,CAM13063,AAT38109,EAW48581,EAW48582,EAW48583,AAD40220,AAD18057,AAD30282,BAD96515,BAG63963,BAH13891,BAG64276,BAG64287,BAH14282,BAH14669,CAB45715,AAH35494,AAH47689,CAG33095,AAA96313,Q6IBJ0,Q9UBD5,ABZ92519,ACE87234,NP_001184188 Hs.410228 LAT|LATHEO|ORC3|ORC3L homolog of latheo, Drosophila|origin recognition complex subunit 3|origin recognition complex subunit Latheo|origin recognition complex, subunit 3 honolog|origin recognition complex, subunit 3-like protein-coding 1343496 ORC4L origin recognition complex, subunit 4-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. It has been shown to form a core complex with ORC2L, -3L, and -5L. Three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 1580863 10402192,15342556,16344560,19074885,20010161,9353276,15232106,12791985,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,15910003,15489334,14702039,12614612,12477932,11483529,11395502,11323433,10954718,10523313,10460412,9829972,9691185,9373149,8125298,9765232,17716973,19454010,19690980,20339536 5000 AK294878,AK295721,AK298862,AK299749,BP277082,BP345092,BQ716497,CD242597,DA120022,DA227202,DB558580,DC317404,DC329505,DC365436,DC399552,NM_002552,NM_181741,AC009480,AC019226,AY600302,CH471058,AF022108,AF047598,AF132596,AK055257,AK225092,AK291989,AV708885,BC005388,BC014847,BC016177,BI603609,BM468640,BM926755,CR590590,CR593105,CR599779,NM_181742,NM_001190879,NM_001190881,NM_001190882,AK128860,BX423253,DC302315,DC365653,DC399282 BAH11910,BAH12166,BAH12887,BAH13118,NP_859526,NP_002543,NP_859525,AAX93051,AAY24232,AAS94326,EAX11555,EAX11556,EAX11557,EAX11558,EAX11559,EAX11560,AAC01957,AAC80282,AAD22110,BAF84678,AAH14847,AAH16177,O43929,Q53SE3,Q53TH5,Q96B14,ABZ92520,NP_001177808,NP_001177810,NP_001177811 Hs.558364,Hs.595935 FLJ46668|ORC4|ORC4L|ORC4P origin recognition complex subunit 4|origin recognition complex, subunit 4 homolog|origin recognition complex, subunit 4-like protein-coding 1320971 ORC5L origin recognition complex, subunit 5-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. It has been shown to form a core complex with ORC2L, -3L, and 4L. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 18029348,9765232,15232106,12791985,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,19240061,15489334,12853948,12690205,12614612,12477932,11395502,11379876,11323433,10954718,10523313,9829972,9417919,9373149,9038340,8125298,10402192,17716973,20677014,19454010 5001 NM_181747,AC002067,AC007393,CH236947,CH471070,AF047599,AF049127,AF081459,AK223361,AK292285,AK302122,NM_002553,BF678849,CR608840,CR614443,U92538,AK313596,BC023652 NP_002544,NP_859531,AAM49152,AAF19238,EAL24408,EAL24409,EAW83341,EAW83342,EAW83343,AAC80283,AAC63972,AAC64401,BAD97081,BAF84974,AAC51933,O43913,O95268,Q53FC8,Q8NDU9,Q9UDM8,ABM83200,ABM86401,BAG63500,BAG36362,AAH23652 Hs.432948 ORC5|ORC5L|ORC5P|ORC5T origin recognition complex subunit 5|origin recognition complex, subunit 5 homolog|origin recognition complex, subunit 5-like protein-coding 1322900 ORC6L origin recognition complex, subunit 6 like (yeast) The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. It has been shown that this protein and and ORC1L are loosely associated with the core complex consisting of ORC2L, -3L, -4L and -5L. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq] 1580863 17716973,15232106,12791985,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,19112505,17081983,16381901,15910003,15489336,15489334,14702039,12614612,12477932,12169736,11593009,11323433,11076863,10945994,10523313,8266075,18761675,19541634 23594 NM_014321,AC007225,CH471092,AF139658,AK021946,AK024019,AK024077,AK310633,BC039032,BC050725,BC063565,CR604421,CR619046,BG822640,NR_037620 NP_055136,EAW82685,EAW82686,AAD32666,BAG51061,BAG51251,BAB14817,AAH39032,AAH63565,Q9H806,Q9Y5N6,CAL37524,CAL37788,CAL38556 Hs.49760 ORC6|ORC6L origin recognition complex subunit 6|origin recognition complex, subunit 6 homolog-like|origin recognition complex, subunit 6 homolog-like (yeast)|origin recognition complex, subunit 6 like protein-coding 1351569 ORM1 orosomucoid 1 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq] 1580863,2316639 16272158,2822385,3360326,14718574,19395425,19141860,19018521,18981009,18823996,18680736,18510947,18273814,17987628,17944232,17675532,17321687,17048007,16740002,16335952,16290938,16261636,15489334,15253437,15111541,15084671,15013397,14760718,12754519,12576428,12480518,12477932,11925509,11911961,11814462,11418606,11336643,11027547,20442402,20959405,20617306,9380773,9050929,8432561,8076819,6809283,4711474,4603214,4561179,3795040,3770479,3463531,2970990,2541064,2479939,2409529,1567356,7795416,19198000,19459043,19616527,19794411,19958090,20237496,20371432 2316639 5004 AAB33887 BI908589,BT019790,CR607356,M13692,N68733,X02544,BC143314,NM_000607,NG_012108,AB014887,AL356796,CH471090,X05779,AK312035,BC007032,BC026238,BC104818,BC104820,BC143313,AK316207 AAI43315,AAV38593,AAA35515,CAA26397,AAB33887,P02763,Q5T539,NP_000598,BAA34292,CAI16859,EAW87416,CAA29229,BAG34972,AAH26238,AAI04819,AAI04821,AAI43314,BAH14578 Hs.522356 AGP-A|AGP1|ORM AGP 1|OMD 1|alpha-1-acid glycoprotein 1|orosomucoid-1 protein-coding 737236 ORM2 orosomucoid 2 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq] 1580863 17207965,20617306,2970990,19584153,19018521,17987628,17048007,16335952,16331959,16290938,15863355,15489334,15253437,15084671,14760718,12528117,12480518,12477932,11752456,11587070,4711474,3679210,3631077,2822385,1567356,11336643,7795416,4603214,19958090,20237496 5005 NM_000608,AL356796,CH471090,M21540,X06674,X06675,X06676,X06677,X06678,X06679,X06680,AK303760,AK312226,AV661485,BC015964,BC056239,CR456930 ADQ33217,NP_000599,CAI16860,EAW87417,AAA51549,CAA29873,CAA29874,BAG64727,BAG35159,AAH15964,AAH56239,CAG33211,P19652,Q5T538,Q6IB74 Hs.719954 AGP-B|AGP-B'|AGP2 AGP 2|OMD 2|alpha-1-acid glycoprotein 2|alpha-1-acid glycoprotein, type 2|orosomucoid-2 protein-coding 1347149 ORMDL1 ORM1-like 1 (S. cerevisiae) 1580863 12093374,17928364,16344560,16303743,14702039,12477932,11042152 94101 NM_016467,NM_001128150,AC013468,AF395701,AF395702,CH471058,CQ782688,CQ783848,CS185551,AA603217,AB064959,AB064960,AF151036,AF395704,AI674061,AK074756,AK075160,AK126336,AK313533,BC005200,CR602229,CR620006,CR936635,DB122266 NP_057551,NP_001121622,AAY14772,AAM43502,EAX10887,EAX10888,EAX10889,CAF85924,CAF86890,CAJ42732,BAC11710,BAC11711,AAF36122,AAM43503,BAC11184,BAC11441,BAG36310,AAH05200,CAI56776,Q9P0S3 Hs.700632 DKFZp686G141|FLJ44364 ORM1-like protein 1|OTTHUMP00000205712|OTTHUMP00000205713|OTTHUMP00000205714|adoplin-1 protein-coding 1313791 ORMDL2 ORM1-like 2 (S. cerevisiae) 15489334,12477932,12093374,11042152,9373149,8125298 29095 BC012543,BG750383,CR621685,AC023055,CH471054,AB064961,AF161509,AF173375,AF395705,AF395706,AF395707,AK223180,AK314046,AW339474,NM_014182 AAH12543,Q53FV1,ACE87271,ACE86589,NP_054901,EAW96840,BAC11712,AAF29124,AAQ13618,AAM43504,AAM43505,AAM43506,BAD96900,BAG36755 Hs.534450 HSPC160|MST095|MSTP095|adoplin-2 ORM1-like protein 2|expressed in normal aorta protein-coding 1352369 ORMDL3 ORM1-like 3 (S. cerevisiae) 1580863 19175592,19133921,18760456,18587394,18395550,18310477,18155279,17611496,16303743,15489334,14702039,12477932,12093374,11042152,16169070,17207965,16344560,20601676,19264973,19430480,19732864,19819884,19820697,20182505,20228799,20372189,20503266,20816195,20860503,21072187,20639880,21150878 94103 NM_139280,AC090844,CH471152,CQ782744,CQ783311,CS300504,AF151043,AF373101,AF373102,AF395708,AK074811,AK075212,AK093063,AY357943,BC000638,BC017087,BC018837,BC050710,BC054042,BC071833,CR620858,DB127807 NP_644809,EAW60616,EAW60617,EAW60618,EAW60619,EAW60620,CAF85976,CAF86524,CAK32168,AAF36129,AAN76521,AAN76522,AAM43507,BAC11223,BAC11476,BAG52645,AAQ57273,AAH17087,AAH71833,Q8N138,Q9P0R7,ADQ31970 Hs.514151 ORM1-like protein 3|OTTHUMP00000164334 protein-coding 1605693 OS9 osteosarcoma amplified 9, endoplasmic reticulum lectin This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 20549515,16169070,18502753,12077121,10403379,9562620,9498564,9192850,8634085,15721254,19084021,19346256,18952287,18417469,18264092,17932042,16344560,15231748,15146197,12747754,12477932,12093806,19914915,20936779,21172656 10956 NM_006812,NM_001017956,NM_001017958,NM_001017957,AB002805,AC025165,CH471054,U81031,AB002806,AK129781,AK130733,AK291374,AK293435,AK294870,AK296770,AK298532,AK303291,AK303858,AK304533,AL137691,AU132426,BC000532,BC006506,BC007254,BC023513,BQ954079,CN335053,CR456791,CR593783,CR594965,CR600830,CR604702,CR610698,CR613922,CR616277,CR621694,U41635 NP_006803,NP_001017956,NP_001017958,NP_001017957,BAA24362,EAW97044,EAW97045,EAW97046,EAW97047,AAC39523,BAA24363,BAF84063,BAG56939,BAG57972,BAG59349,BAG60733,BAH13933,BAG64798,BAG65333,AAH00532,AAH06506,AAH07254,AAH23513,CAG33072,AAB06495,Q13438,Q6IBL2,Q9BR60,Q9BW99,ABM83685,ABM86982 Hs.527861 ERLEC2|OS-9 amplified in osteosarcoma 9|endoplasmic reticulum lectin 2|erlectin 2|osteosarcoma amplified 9, endoplasmic reticulum associated protein|protein OS-9 protein-coding 1317627 OSBP oxysterol binding protein Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq] 1580863 19570870,20178991,20444975,1970801,18165705,17081983,16571669,15746430,15489334,15302935,12477932,12023275,11735225,11278871,10588946,1730758,20545625,19913121,20628086 5007 NM_002556,AF185697,AF185698,AF185699,AF185700,AF185701,AF185702,AF185703,AF185704,AF185705,AP000442,CH471076,AF185696,AK299071,AK310538,BC011581,BC017975,BC051350,BC063121,CR592861,CR609894,CR624389,M86917 P22059,NP_002547,AAG28373,EAW73849,AAG17011,BAG61137,AAH11581,AAH63121,AAA59973 Hs.597091 OSBP1 oxysterol-binding protein 1 protein-coding 1321446 OSBP2 oxysterol binding protein 2 Oxysterols are byproducts of cholesterol that can have cytotoxic effects on many cell types. The membrane-bound protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq] 1580863 19913121,20628086,20379614,18294060,17350617,14702039,12964051,12477932,11802775,11735225,11483621,11278871,11258795,10591208 23762 AC004542,AF288742,AL022336,AL079299,CH471095,AB051451,AF288741,AF323731,AK093196,AK097581,AK131374,AK294007,AK296354,AK296525,AK300323,BC004340,BC018025,BC118914,CR613311,CR625576,NM_030758 CAQ07396,CAQ07892,NP_110385,AAC12953,AAK56865,EAW59916,EAW59917,EAW59918,EAW59919,BAB33334,AAK56864,AAG53406,BAC04091,BAD18525,BAG57369,BAG59036,BAG59156,BAG62075,AAI18915,Q0VF99,Q6ZN50,Q969R2,Q8NA37 Hs.517546 ORP-4|ORP4|OSBPL1|OSBPL4 OSBP-related protein 4|OTTHUMP00000199263|OTTHUMP00000199264|OTTHUMP00000199270|OTTHUMP00000199271|OTTHUMP00000199272|oxysterol binding protein-like 1|oxysterol binding protein-related protein 4|oxysterol-binding protein 2|oxysterol-binding protein-related protein 4 protein-coding 1350183 OSBPL10 oxysterol binding protein-like 10 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq] 1580863 20610895,18029348,16806233,15489334,12477932,11735225,11483621,19554302,19615732,20224571,20379614 114884 NM_017784,AC092024,AC107620,AC108485,CH471055,AB209872,AF346291,AF392451,AK000370,AK024945,AK304067,AL389943,AL833247,BC003168,CR604343,AI798005,DC377079,NM_001174060 NP_060254,EAW64417,EAW64418,BAD93109,AAK31140,AAL40664,BAA91118,BAG64974,AAH03168,Q59ED9,Q9BXB5,Q9NX98,NP_001167531 Hs.150122 FLJ20363|ORP10|OSBP9 ORP-10|OSBP-related protein 10|OTTHUMP00000208754|oxysterol-binding protein-related protein 10 protein-coding 1316402 OSBPL11 oxysterol binding protein-like 11 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq] 1580863 19913121,20628086,17081983,16964243,16344560,15489334,15302935,14702039,12477932,11735225,11483621,9110174,8619474,19325544,19615732,20599956 114885 AC016959,CH471052,AF318344,AF346292,AF392454,AK023074,AK023226,AK292702,AY007102,BC010422,BC065213,BX506747,NM_022776,DA112146,DA722217,CR613218 NP_073613,EAW79389,AAL55851,AAK31141,AAL40667,BAB14391,BAB14477,BAF85391,AAH10422,AAH65213,Q8WYV5,Q9BXB4,Q9GZM0,ACE87325,ACE86643 Hs.477440 FLJ13012|FLJ13164|ORP-11|ORP11|OSBP12|TCCCIA00292 OSBP-related protein 11|oxysterol-binding protein-related protein 11 protein-coding 731675 OSBPL1A oxysterol binding protein-like 1A This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq] 1580863 11279184,10588946,19564404,18464913,18369178,17081983,16176980,14702039,12631712,12477932,11735225,11483621,20379614,20548944 114876 BC041563,BC063420,BC073854,BC098384,BC136452,BC144117,BX647893,NM_080597,NM_018030,AC023983,AC090772,CH471088,AF274714,AF323726,AF392449,AF392450,AK001079,AK021898,AK096358,AK292895,AK301862,AK314552,BC007004,BC022293,EF445004 AAH41563,AAH63420,AAH73854,AAH98384,AAI36453,AAI44118,Q6DKJ0,Q6GSK5,Q8IVZ3,Q96IZ3,Q9BXW6,NP_542164,NP_060500,EAX01180,EAX01181,EAX01182,EAX01183,AAK15154,AAG53407,AAL40662,AAL40663,BAG53273,BAF85584,BAH13569,BAG37138,AAH07004,ACA06034,ACA06035 Hs.370725 FLJ10217|ORP-1|ORP1|OSBPL1B OSBP-related protein 1|oxysterol binding protein-like 1B|oxysterol-binding protein-related protein 1|oxysterol-binding protein-related protein 1 variant 1|oxysterol-binding protein-related protein 1 variant 2 protein-coding 1322699 OSBPL2 oxysterol binding protein-like 2 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. 1580863 19913121,20628086,15489334,12477932,11861666,11780052,11735225,11483621,11279184,10588946,9872452,19224871,19554302 9885 NM_144498,NM_014835,AL354836,CH471077,AB018315,AF331963,AF392447,AK000230,AK124174,AK291851,AK315576,AY028168,BC000296,BC004455,BC018812,CR456722,CR594910,CR622829,AK296595 NP_653081,NP_055650,CAC22306,CAC22307,CAC29153,EAW75377,EAW75378,EAW75379,BAA34492,AAG53416,AAL40660,BAF84540,BAG37950,AAK18044,AAH00296,AAH04455,CAG33003,Q9BZ16,Q9H1P3,ABM82322,ABM85501,BAG59210 Hs.473254 FLJ20223|KIAA0772|MGC4307|MGC8342|ORP-2|ORP2 OSBP-related protein 2|oxysterol-binding protein-like 2|oxysterol-binding protein-related protein 2 protein-coding 1350234 OSBPL3 oxysterol binding protein-like 3 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Several transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20379614,17353931,18270267,16143324,15489334,15324660,14593528,12853948,12690205,12590732,12477932,11735225,11568019,11483621,10588946,9847074,9734811,15778465 26031 AF515639,AF515640,AL832293,AY008372,BC017731,NM_145320,NM_145321,NM_015550,AC003093,AC004008,AC004016,AC004239,CH236948,NM_145322,CH471073,AB014604,AF323727,AF392444,AF491781,AF491782,AF491783,AF491784,AF491785,AF491786 AAM74165,AAM74166,AAG23400,AAH17731,Q9H4L5,NP_663162,NP_663160,NP_663161,NP_056365,AAB83939,AAC26986,EAL24240,EAL24241,EAL24242,EAL24243,EAL24244,EAL24245,EAW93818,EAW93819,EAW93820,EAW93821,BAA31679,AAG53408,AAL40657,AAM27386,AAM27387,AAM27388,AAM27389,AAM27390,AAM27391 Hs.520259 DKFZp667P1518|KIAA0704|MGC21526|ORP-3|ORP3|OSBP3 OSBP-related protein 3|OTTHUMP00000122490|OTTHUMP00000122491|OTTHUMP00000202008|OTTHUMP00000202009|OTTHUMP00000202019|OTTHUMP00000202020|oxysterol-binding protein 3|oxysterol-binding protein-related protein 3 protein-coding 1318150 OSBPL5 oxysterol binding protein-like 5 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 10588946,17474147,19032366,17081983,16806233,16381901,15489336,15489334,14702039,12504849,12477932,11735225,11483621,11230166,11076863,10819331,19019082,20201924,20644730 114879 AB074006,AF331964,AF392453,AF410430,AK055617,AK056510,AK124919,AK293000,AK297475,AK301003,AK303205,CH471158,AK309411,AL136918,BC017505,BC032646,BC039579,CR593884,CR598808,CR617583,CR619585,DC400863,NM_001144063,NM_020896,NM_145638,NG_009548,AC108448 EAX02542,EAX02543,BAB85686,AAG53417,AAL40666,AAK98617,BAG51544,BAG51735,BAG54112,BAF85689,BAG59896,BAG62622,BAG64295,CAB66852,AAH17505,AAH32646,AAH39579,Q8N596,Q8WVV2,Q9H0X9,NP_001137535,NP_065947,NP_663613,CAL38302,CAL37769 Hs.436166 FLJ42929|OBPH1|ORP5 ORP-5|OSBP-related protein 5|oxysterol-binding protein homolog 1|oxysterol-binding protein homologue 1|oxysterol-binding protein-related protein 5 protein-coding 1318914 OSBPL6 oxysterol binding protein-like 6 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 19401682,14702039,14593528,12477932,11735225,11483621,10588946,19596235 114880 AK123248,BX647557,NM_032523,NM_145739,AC009948,AC011238,AC011743,CH471058,AB208898,AF323728,AF392448,AF462443,AK025168,AK027600,AK093902,AK300389,BC021248,BC052259,CA425863,NM_001201480,NM_001201481,NM_001201482 NP_001188409,NP_001188410,NP_001188411,NP_115912,NP_665682,AAX88881,AAY15090,EAX11039,EAX11040,EAX11041,EAX11042,EAX11043,BAD92135,AAG53409,AAL40661,AAP97711,BAB55223,BAC04248,BAG62123,AAH21248,AAH52259,Q6PJ70,Q86V84,Q9BZF3 Hs.593061,Hs.318775 DKFZp686M06110|FLJ36583|FLJ41254|MGC59642|ORP6 ORP-6|OSBP-related protein 6|OTTHUMP00000205307|oxysterol-binding protein-related protein 6 protein-coding 1319316 OSBPL7 oxysterol binding protein-like 7 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq] 1580863 15489334,14593528,12477932,11735225,11483621,8889548,19913121,20628086,20379614 114881 NM_145798,AC003665,CH471109,AB208886,AF323729,AF392446,AI955239,AK289523,BC028010,BC065482,BM674891 NP_665741,EAW94800,EAW94801,EAW94802,EAW94803,BAD92123,AAG53410,AAL40659,BAF82212,AAH28010,AAH65482,Q59H73,Q6PIV6,Q8WXP9,Q9BZF2,Q9NXG8 Hs.463320 MGC71150|ORP7 ORP-7|OSBP-related protein 7|oxysterol-binding protein-related protein 7 protein-coding 1348483 OSBPL8 oxysterol binding protein-like 8 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16806233,15489334,14702039,12477932,12168954,11735225,11483621,10819331,1735225,18029348,17991739,17672918,17081983,20379614,20562859 114882 NM_001003712,NM_020841,AC122687,AC124943,CH471054,AB040884,AF173895,AF323730,AF392452,AK055835,AK092160,AK172813,AK289997,AL049923,AL832876,BC012935,BC082235,BC093834,BC101529,BC111728,BC143251,BX647211,CR749542,AC117491 NP_001003712,NP_065892,EAW97324,EAW97325,EAW97326,EAW97327,BAA95975,AAQ13642,AAG53411,AAL40665,BAB71026,BAD18783,BAF82686,AAH12935,AAH82235,AAH93834,AAI01530,AAI11729,CAI46050,CAH18345,Q5HYM3,Q641R2,Q68D75,Q6ZME5,Q7Z2S4,Q96E43,Q96N80,Q9BZF1 Hs.430849 DKFZp686A11164|MGC126578|MGC133203|MST120|MSTP120|ORP8|OSBP10 ORP-8|OSBP-related protein 8|oxysterol-binding protein-related protein 8 protein-coding 1323003 OSBPL9 oxysterol binding protein-like 9 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Multiple transcript variants, most of which encode distinct isoforms, have been identified. [provided by RefSeq] 1580863 19913121,20628086,16962287,14702039,12477932,11735225,11483621,15212954,16344560,19129476,20599956,19377067,19554302,19615732,19413330 114883 CH471059,AB208851,AF392445,AK022554,AK027535,AK027707,AK056617,AK074392,AK091703,AK124037,AK128043,AK297656,AK315167,AY178997,BC006160,BC025978,BQ230093,CR457288,CR607539,CR609523,AL831767,NM_024586,NM_148908,NM_148906,NM_148904,NM_148905,NM_148907,AL050343,AL772260,NM_148909,DB081133,EL953716,NR_036662 CAI14841,CAI14842,CAI14843,CAI14844,EAX06810,EAX06811,EAX06812,EAX06813,EAX06814,EAX06815,EAX06816,EAX06817,EAX06818,EAX06819,BAD92088,AAL40658,BAB14096,BAB55184,BAB55312,BAG51766,BAC03727,BAG53995,BAG54621,BAH12642,AAO20108,AAH06160,AAH25978,CAG33569,Q59HA8,NP_683707,NP_078862,NP_683706,NP_683704,NP_683702,NP_683703,NP_683705,CAI22217,CAI22218,CAI22219,CAI22220,CAI22221,CAH71116,CAH71117,CAH71118,CAH71119,Q86YQ3,Q96SU4,Q9BRN2 Hs.21938 FLJ12492|FLJ14629|FLJ14801|FLJ32055|FLJ34384|MGC15035|ORP-9|ORP9 ORP-9|OSBP-related protein 9|OTTHUMP00000009940|OTTHUMP00000009941|OTTHUMP00000009942|OTTHUMP00000009943|oxysterol-binding protein-related protein 9 protein-coding 1603587 OSCAR osteoclast associated, immunoglobulin-like receptor Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex (LRC) protein family that plays critical roles in the regulation of both innate and adaptive immune responses. Different from the other LRC members, OSCAR expression is detected specifically in preosteoclasts or mature osteoclasts. OSCAR may be an important bone-specific regulator of osteoclast differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16493074,16109714,16007331,15905516,15650060,15155468,14702039,12477932,11805147,1185147,18821671,15085135,19453261,20237496,21172874 126014 NM_133168,NM_133169,NM_206818,NM_130771,AC012314,CH471135,AF251702,AF391162,AF391163,AF391164,AF474152,AF474153,AK091111,AK130199,AK311307,BC035023,BG722509,CR613625 NP_573398,NP_573399,NP_996554,NP_570127,EAW72174,EAW72175,EAW72176,EAW72177,EAW72178,AAM19095,AAL68495,AAL68496,AAL68497,AAQ05766,AAQ05767,BAC03586,AAH35023,Q8IYS5,ABM84623,ABM85659 Hs.347655 MGC33613|PIGR3 OTTHUMP00000067447|OTTHUMP00000067460|OTTHUMP00000081759|PIgR-3|hOSCAR|osteoclast associated receptor OSCAR-S1|osteoclast associated receptor OSCAR-S2|osteoclast-associated immunoglobulin-like receptor|osteoclast-associated receptor|poly-Ig receptor 3|polymeric immunoglobulin receptor 3 protein-coding 1606165 OSCP1 organic solute carrier partner 1 19727524,16006562,15489334,14702039,12819961,12477932,8889548,15146197,16344560,18237537,20379614 127700 NM_145047,NM_206837,AC119675,CH471059,AA505729,AB079075,AF086535,AF462348,AK098541,AW471215,BC018069,BF691288,CA450619,CR599022,CR612122,CR620198,AW136490,BU854079,CN430132,DA297022 NP_659484,NP_996668,EAX07364,EAX07365,EAX07366,BAE16984,AAL89738,BAC05326,AAH18069,Q8WVF1,ABM86513,ABW03659 Hs.202207 C1orf102|MGC26685|NOR1 OTTHUMP00000009843|OTTHUMP00000009844|hOSCP1|organic solute carrier protein 1|organic solute transport protein 1|oxidored nitro domain containing protein|oxidored-nitro domain-containing protein 1|protein OSCP1 protein-coding 1318432 OSGEP O-sialoglycoprotein endopeptidase 1580863 17353931,15489334,14702039,12477932,12039036,11641609,11418125,10859271,9110174,9092683,8619474,16344560,20010699 55644 CR610109,CR614622,CR624248,CD365329,DA068526,AB047823,AL355075,CH471078,AB050442,AF052137,AJ271669,AK000418,AK054823,AK055492,BC032310,BX428958,CR457232,CR594397,CR597694,NM_017807 Q9NPF4,ABM85732,ABW03728,NP_060277,BAB33147,EAW66469,EAW66470,BAB33172,CAB71031,BAA91150,AAH32310,CAG33513 Hs.525196 FLJ20411|GCPL1|KAE1|OSGEP1|PRSMG1 hOSGEP|probable O-sialoglycoprotein endopeptidase protein-coding 1313685 OSGEPL1 O-sialoglycoprotein endopeptidase-like 1 1580863 20877624,14702039,12477932 64172 NM_022353,AC013468,CH471058,HB913291,HB930734,HB947813,HC970700,HC988143,HD005223,AJ295148,AK055441,AK294841,AK314565,BC011904 EAX10890,NP_071748,AAY14771,CBF91713,CBG00264,CBG08622,CBV05233,CBV13784,CBV22144,EAX10891,CAC14666,BAB70923,BAG57948,AAH11904,Q9H4B0,ABM83973,ABM87290 Hs.60772 O-sialoglycoprotein endopeptidase like 1|O-sialoglycoprotein endopeptidase-like protein 1|probable O-sialoglycoprotein endopeptidase 2|putative sialoglycoprotease type 2 protein-coding 1607033 OSGIN1 oxidative stress induced growth inhibitor 1 11459809,18499678,16924236,15569677,15489334,14570898,12477932,8889548,19851296,20198315 29948 NM_013370,NM_182980,NM_182981,AC040169,AF334780,CH471114,AF191740,AK290383,AY037158,AY258066,AY258067,AY258068,BC020434,BC032476,BC093687,BC113417,BM976366,HI573984,HI573986,HI573988 NP_037502,NP_892025,NP_892026,AAK01722,EAW95511,EAW95512,AAF06662,BAF83072,AAK67637,AAP14662,AAP14663,AAP14664,AAH32476,AAH93687,AAI13418,Q52M33,Q9UJX0,ADR83187,CBX47481,CBX47482,CBX47483 Hs.128055 BDGI|OKL38 bone marrow stromal cell-derived growth inhibitor|huOKL38|ovary, kidney and liver protein 38|oxidative stress-induced growth inhibitor 1|pregnancy induced growth inhibitor|pregnancy-induced growth inhibitor OKL38 protein-coding 1314879 OSGIN2 oxidative stress induced growth inhibitor family member 2 9933573,16341674,15489334,12477932,8889548 734 NM_004337,NM_001126111,AF069291,AF117829,CH471060,AF061326,BC031054,BM764021,BU688773 NP_004328,NP_001119583,AAC62231,EAW91657,EAW91658,EAW91659,AAD18134,AAH31054,Q9Y236,AAI56590 Hs.436445 C8orf1|hT41 chromosome 8 open reading frame 1|oxidative stress-induced growth inhibitor 2 protein-coding 1344213 OSIL oxidative stress induced like 1580863 8650207 54211 Q13502 U46752 69134 OSM oncostatin M Oncostatin M is a member of a cytokine family that includes leukemia-inhibitory factor, granulocyte colony-stimulating factor, and interleukin 6. This gene encodes a growth regulator which inhibits the proliferation of a number of tumor cell lines. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. [provided by RefSeq] 1580863 2779549,9920829,1717982,7867561,7508917,8999038,19158344,19158240,19148539,19086053,19019853,18981157,18772145,18637848,18564531,18499891,18398932,18317962,18187666,18028996,17979974,17881458,17761945,17604327,17471233,17372020,17081797,17028186,17009243,16802343,16713283,16369169,15863389,15837947,15831292,15809742,15712220,15489334,15461802,15146412,12707269,12692260,12640208,12531804,12477932,12391243,12218157,12138373,12090757,12061841,12061840,11936950,11839742,11818668,11811789,11777927,11711546,10997905,10591208,10556323,9847074,8422753,8406444,3540948,2325640,2026606,1542794,1542793,1536831,19913121,20628086,16051226,19342253,19565514,19652200,19916861,20101226,20149034,20237496,20408777,20650266,20088942,20189410 5008 NM_020530,AC004264,AF129855,CH471095,M27286,M27287,M27288,AB451493,BC011589,CR456534,CR541703 NP_065391,AAC05173,AAD31435,EAW59864,EAW59865,AAA36388,BAG70307,AAH11589,CAG30420,CAG46504,P13725,CAK54565,CAK54864,ABM83463,ABM86674 Hs.248156 MGC20461 oncostatin-M protein-coding 1352311 OSMR oncostatin M receptor Oncostatin M is a member of the IL6 family of cytokines. Functional receptors for IL6 family cytokines are multisubunit complexes involving members of the hematopoietin receptor superfamily. Many IL6 cytokines utilize gp130 as a common receptor subunit. OSM binds to the gp130 receptor subunit and, in association with the leukemia inhibitory factor receptor, induces a proliferative response in permissive cells. OSMR is an alternative subunit (for an OSM receptor complex (a heterodimer of gp130 and OSMR) that is activated by OSM but not by LIF [provided by RefSeq] 1580863 8999038,19223499,19158344,18641356,18430728,18179886,17028186,15831292,15489334,15184896,12477932,12061840,11786531,11706938,11602599,10997905,10586060,9662460,9617575,9188471,11821958,15342556,19375894,19466957,19662090,19690585,19834535,20205591,20424473,20628624,20507362 9180 AC026713,NM_003999,CH471119,AK304016,BC010943,BC063468,BC125209,BC125210,CR593298,CR623600,U60805,AI417125,BP352496,BU619548,CA439576,CB265977,DR006275,NG_016236,NM_001168355,CS398420,CS399454,CS401263,CS720092,FB507084,GM989506,GN088764,HC731059,HH829739 NP_003990,EAW55976,EAW55977,BAG64931,AAH10943,AAH63468,AAI25210,AAI25211,AAC50946,Q99650,NP_001161827,CAL44879,CAL44943,CAL44954,CAP40197,CAV32861,CAX21680,CAX87006,CBL94055,CBX32719 Hs.120658,Hs.658389 MGC150626|MGC150627|MGC75127|OSMRB IL-31 receptor subunit beta|IL-31R subunit beta|IL-31R-beta|IL-31RB|interleukin-31 receptor subunit beta|oncostatin-M specific receptor beta subunit|oncostatin-M-specific receptor subunit beta protein-coding 1605876 OSR1 odd-skipped related 1 (Drosophila) 18978678,16381901,15815621,15761153,15489336,15489334,14702039,12477932,12119563,11256614,11076863,2120051,16511565,18029348,20800603 130497 NM_145260,AC018741,CH471053,CQ782558,DQ021502,AB082568,AI391506,AK074591,AK122756,BC025712,CR602655 NP_660303,AAY14760,EAX00846,EAX00847,EAX00848,CAF85834,AAY26397,BAB92079,BAC11079,BAG53709,AAH25712,Q8TAX0,CAL38246 Hs.123933 ODD odd-skipped homolog|protein odd-skipped-related 1 protein-coding 1345615 OSR2 odd-skipped related 2 (Drosophila) OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM] 737633,1580863 20634891,15670784,15489334,15175245,14702039,12477932,11520675 737633 116039 NM_053001,NM_001142462,AC016877,CH471060,AK074518,AK291491,AK304654,AK310994,AY038072,AY038073,BC016936,CR593221 NP_443727,NP_001135934,EAW91784,EAW91785,BAC11035,BAF84180,BAG65429,AAK74066,AAK74067,AAH16936,Q8N2R0 Hs.253247 FLJ90037 protein odd-skipped-related 2 protein-coding 3418321 OST4 oligosaccharyltransferase 4 homolog (S. cerevisiae) 12477932,16317064,19913121,20628086 100128731 AA772256,AC013403,AL049447,BC105283,BF697310,NM_001134693 NP_001128165,P0C6T2 Hs.502948 DKFZp586A0722 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 protein-coding 1607011 OSTC oligosaccharyltransferase complex subunit 20332099,15835887,12477932 58505 AC107071,AX013128,CH471057,NM_021227,AF068297,AF161425,AF201937,AF343342,AK312185,AW081061,BC016321,BC054857,BM471860,BM541430,BM546028,BM994257,BQ435510,CD369095,CR593408,CR596779,CR597339,CR604503,CR612146,CR618694,CR621571,CS488901 NP_067050,EAX06233,EAX06234,AAF65186,AAF28985,AAF86873,AAK69656,BAG35118,AAH16321,AAH54857,Q9NRP0,ABM84148,ABM87550,CAM55975 Hs.445803 DC2 OTTHUMP00000219605|hydrophobic protein HSF-28|oligosaccharyltransferase complex subunit OSTC protein-coding 1604506 OSTCL oligosaccharyltransferase complex subunit-like 12477932,17207965 202459 AL589931,AL627422,BC024224,CH236958,NR_028496 AAH24224,Q8TBU1,ADQ32254 Hs.487035 DC2L pseudo 733236 OSTF1 osteoclast stimulating factor 1 Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM] 1580863 17353931,10092216,19137598,17081983,16946461,16508112,15489334,15342556,15164053,15135048,12477932,11551898,10773673,9630982,17207965,9373149,8125298,19453261,19807924,20424473 26578 NM_012383,AL133548,CH471089,AK222596,AK291511,BC007459,BP312980,CR594571,CR601709,U63717 NP_036515,CAH71573,EAW62570,EAW62571,EAW62572,EAW62573,BAD96316,BAF84200,AAH07459,AAB06396,Q92882,ADQ32843 Hs.494192 FLJ20559|OSF|SH3P2|bA235O14.1 osteoclast-stimulating factor 1 protein-coding 1348431 OSTF1P osteoclast stimulating factor 1 pseudogene 386654 NG_003109,AC069240 OSTF1P pseudo 1345018 OSTM1 osteopetrosis associated transmembrane protein 1 This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq] 19453261,18978678,18296023,17985267,17922613,16303743,15489334,15177004,15108279,14702039,12975309,12826607,12627228,12477932,12079282,11042152,16525474,19507210 28962 NM_014028,NG_007262,CH471051,Z98200,AA428166,AF077205,AF533891,AJ420489,AJ420572,AK075012,AK129854,AK314393,AV715475,AY358795,BC010845,BC016376,BC059412,BC068581,BE218267,BI668275,BK000461,BQ716123 NP_054747,EAW48389,EAW48390,EAW48391,CAI19229,AAD27000,AAO72749,BAC11351,AAQ89155,AAH68581,DAA00039,Q86WC4 Hs.706947,Hs.726031,Hs.226780 GIPN|GL|HSPC019|OPTB5 GAIP-interacting protein N terminus|OTTHUMP00000196342|grey-lethal osteopetrosis|osteopetrosis-associated transmembrane protein 1 protein-coding 1342782 OSTN osteocrin 1304017 17950246,15044443,14523025,19453261,17951249,12477932 1304017 344901 NM_198184,AC126567,CH471052,AY398681,AY573933,BC128106,BC128107 NP_937827,EAW78095,AAQ94966,AAS87599,AAI28107,AAI28108,P61366 Hs.526794 MUSCLIN osteocrin protein-coding 1604974 OSTalpha organic solute transporter alpha 16317684,18847488,18469300,17332473,16713569,16423920,16269519,16251721,15563450,12719432,12477932 200931 NM_152672,AC069257,CH471191,AK172837,AK300996,AK310276,AY194243,BC029606 NP_689885,EAW53665,BAD18802,BAG62615,AAP23993,AAH29606,Q86UW1 Hs.630585 MGC39807|OSTA OST-alpha|organic solute transporter subunit alpha protein-coding 1604245 OSTbeta organic solute transporter beta 18847488,8889549,12719432,18469300,17332473,16423920,16317684,16269519,16251721,15563450,12477932,20649839 123264 AA156136,AA621440,AI793107,NM_178859,AC013553,CH471082,AK129601,AY194242,BC103842,BC103843,BC103844 NP_849190,EAW77708,AAP23992,AAI03843,AAI03844,AAI03845,Q86UW2 Hs.27018,Hs.534533 FLJ26090|MGC118959|MGC118960|MGC118961|OSTB OST-beta|OTTHUMP00000164149|organic solute transporter subunit beta protein-coding 732939 OTC ornithine carbamoyltransferase This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq] 2300098,1601074,1582379,1300048,1600998,1600999,1580863,4143230,4144085,4144077,2303519,1643525,4144078,4144079,4144123,4144066,70249,4144059,4144061,4144071,4144069,4144080,4144087,4144083 18029348,19475717,19574962,19893582,2037279,8530002,8364586,8099056,8081398,8081373,8019569,7951259,7860066,7860064,7627182,7474905,7085676,6942417,6494904,6169723,3943133,3895227,8807340,8544185,3891325,3782067,3170748,2983225,2843770,2836378,2741942,2722850,2556444,2474822,2347583,2208768,6372096,19359120,19138872,18983895,18204299,18030415,17893704,17570354,17570074,17041896,16786505,15772651,15692798,15489334,15300856,12618087,12516615,12477932,12083811,11793483,11793468,11768581,11260212,10813810,10737985,10565370,10502831,10405441,10070627,9852088,9756929,9286441,9266388,9143919,9065786,9056557,8956045,8956038,8863155,8830175,16712791,2035531,1757964,1721894,1671317,1627356,1602151,1480464,1353535,20127982 2300098,1601074,1582379,1600998,1600999,4143230,4144085,4144077,2303519,1643525,4144078,4144079,4144123,4144066,70249,4144059,4144061,4144071,4144069,4144080,4144087,4144083 5009 S73640,NM_000531,NG_008471,AF241726,AL606748,AL607040,CH471141,D00095,D00230,M11235,X04443,AI247721,AK292757,BC074745,BC107153,BC107154,BC114496,BX118743,BX494966,CB158478,K02100 NP_000522,CAI95408,CAI95193,EAW59439,EAW59440,BAA00058,BAA00161,AAA59976,AAB31859,CAA28039,BAF85446,AAH74745,AAI07154,AAI07155,AAI14497,AAA59975,P00480 Hs.117050 MGC129967|MGC129968|MGC138856|OCTD OTCase|ornithine carbamoyltransferase, mitochondrial|ornithine transcarbamylase protein-coding 1348640 OTOA otoancorin 1580863 20379614,19888295,19088187,14702039,12477932,11972037 146183 NM_144672,NM_170664,NM_001161683,AC092719,CH878403,AK093062,AK125840,AK302733,BC038458,BC040551,BC129992,NG_012973,BC129993,BK000099 NP_653273,NP_733764,NP_001155155,EAW50524,EAW50525,BAC04040,BAG54255,BAG63950,AAH38458,AAI29993,AAI29994,DAA00022,Q05BM7,Q7RTW8 Hs.408336 CT108|DFNB22|FLJ32773|MGC157747|MGC39813 cancer/testis antigen 108|otoancorin protein-coding 1344284 OTOF otoferlin Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq] 1580863 10192385,19250381,19004828,18381613,17055430,16371502,14635104,12525542,12469219,12127154,12114484,10903124,10878664,10843812,8789454,8593615,14563843,20211493,19461658,19636622,20224275,20230791,20504331 9381 NM_194248,NM_194322,NM_194323,NM_004802,NG_009937,AC093378,AC108070,CH471053,AF107403,AF183185,AF183186,AF183187,AK296272,EU436745 NP_919224,NP_919303,NP_919304,NP_004793,AAY15083,EAX00682,EAX00683,EAX00684,EAX00685,EAX00686,EAX00687,AAD26117,AAG12991,AAG12992,AAG17468,BAG58982,ACC68677,Q9HC10,AAI56052,AAI56939 Hs.91608 AUNB1|DFNB6|DFNB9|FER1L2|NSRD9 OTTHUMP00000122455|fer-1-like protein 2|otoferlin protein-coding 1315323 OTOG otogelin 10337628,9405633,10655058 340990 XM_003118637,XM_003119487,XM_003120688,XM_291816,XM_001717531,XM_941002,AC124799,AK128214,CH471064 Q6ZRI0,XP_003118685,XP_003119535,XP_003120736,XP_291816,XP_001717583,XP_946095,BAC87330,EAW68430 Hs.688380 FLJ46346|OTGN|mlemp OTTHUMP00000195076|otogelin protein-coding 4140314 OTOL1 otolin 1 homolog (zebrafish) 11181995,15905077,16641997,17544811,20966902 131149 AC104471,CH471052,NM_001080440 A6NHN0,EAW78611,NP_001073909 Hs.585021 C1QTNF15 C1q and tumor necrosis factor related protein 15|otolin-1 protein-coding 735811 OTOP1 otopetrin 1 633435 12651873,12477932 633435 133060 NM_177998,AC011744,BK000654,CH471131,BC130430,BC130432,BK000653 NP_819056,DAA00902,EAW82445,EAW82446,AAI30431,AAI30433,DAA00901,Q7RTM1 Hs.534544 MGC163302|MGC163304 otopetrin-1 protein-coding 1312497 OTOP2 otopetrin 2 633435 12651873 633435 92736 NM_178160,AC068874,AC087651,CH471099,AK000063,BK000567 NP_835454,EAW89213,DAA00895,Q7RTS6,AAI48347,AAI52987 Hs.352515 otopetrin-2 protein-coding 1315404 OTOP3 otopetrin 3 633435 12477932,12651873 633435 347741 NM_178233,AC087651,CH471099,BC143799,BK000568 NP_839947,EAW89214,EAW89215,EAW89216,DAA00896,Q7RTS5,AAI40367 Hs.454407 otopetrin-3 protein-coding 1313174 OTOR otoraplin The protein encoded by this gene is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. This gene is a member of the melanoma-inhibiting activity gene family. In addition, alternate polyA sites exist for this gene. [provided by RefSeq] 1580863 10873378,15489334,15340161,12975309,12477932,20800603,11780052,7829101,11161796,10998416 56914 NM_020157,AJ252324,AL034428,CH471133,AF233261,AF243505,AJ242552,AY359082,BC101688,BC101690,BI495573,CR624240 NP_064542,CAC28085,CAC16848,EAX10282,EAX10283,AAF82078,AAG42356,CAC27443,AAQ89441,AAI01689,AAI01691,Q9NRC9 Hs.41119 FDP|MGC126737|MGC126739|MIAL|MIAL1 fibrocyte-derived protein|melanoma inhibitory activity-like protein|otoraplin protein-coding 1349689 OTOS otospiralin Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM] 15815621,15489334,12687421,12477932,11880501 150677 AC013469,AY062256,CH471063,AI201810,BC105085,BC105087,BX118794,NM_148961 NP_683764,AAY14739,AAL47489,EAW71179,AAI05086,AAI05088,Q8NHW6 Hs.148586 OTOSP OTTHUMP00000164499|otospiralin protein-coding 1345021 OTP orthopedia homeobox This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq] 12477932,10458915 23440 NM_032109,AC108173,CH471084,BC001800 NP_115485,EAW95809,AAH01800,Q5XKR4,ABZ92225 Hs.202247 MGC3161 homeobox protein orthopedia|orthopedia homolog|orthopedia homolog (drosophila) protein-coding 1353064 OTSC1 otosclerosis 1 9425236 5012 1344786 OTSC2 otosclerosis 2 11170898 93999 1345913 OTSC3 otosclerosis 3 12114476 170532 1348662 OTSC4 otosclerosis 4 286751 1352878 OTSC5 otosclerosis 5 15173231 317682 1343945 OTSC6 otosclerosis 6 319090 1346516 OTSC7 otosclerosis 7 399516 1322723 OTUB1 OTU domain, ubiquitin aldehyde binding 1 The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 19383985,19211026,18954305,20553488,20725033,16364312,15489334,15231748,14702039,14661020,12704427,12477932,12401499,11042152,10664582,9373149,8125298,19615732,19996094 55611 NM_017670,AP000721,CH471076,CQ834180,AF161381,AK000120,AK091830,AK098029,AK225133,AK298287,AK303228,AK307413,NR_003089,AL096714,AY177200,BC007519,BC010368,BC107701,CK906312,CR598022,CR598561,CR598740,CR599600,CR602250,CR603142,CR603813,CR604649,CR604801,CR605354,CR609035,CR610074,CR612641,CR616043,CR617285,CR617582,CR617727,CR617783,CR618522,CR620541 NP_060140,EAW74187,EAW74188,EAW74189,EAW74190,EAW74191,CAH05305,AAF28941,BAA90956,BAG53567,BAG60547,BAG64315,CAH56412,AAO27702,AAH07519,AAH10368,AAI07702,Q659F9,Q96FW1 Hs.473788 FLJ20113|FLJ40710|HSPC263|MGC111158|MGC4584|OTB1|OTU1 OTU domain-containing ubiquitin aldehyde-binding protein 1|OTU-domain Ubal-binding 1|deubiquitinating enzyme OTUB1|hOTU1|otubain-1|ubiquitin thioesterase OTUB1|ubiquitin-specific protease otubain 1|ubiquitin-specific-processing protease OTUB1 protein-coding 1315448 OTUB2 OTU domain, ubiquitin aldehyde binding 2 Otubains are deubiquitylating cysteine proteases (DUBs; see MIM 602519) that belong to the ovarian tumor (OTU) protein superfamily. Like other DUBs, otubains cleave proteins precisely at the ubiquitin (UB; see MIM 191339)-protein bond.[supplied by OMIM] 12704427,16189514,15489334,15258613,15014966,14702039,12508121,12477932,18954305,19615732,19996094,17207965 78990 NM_023112,AL079302,CH471061,AF318378,AI018242,AK025569,AY177201,BC000208,BC009615,BC068058,BG423958,CR457345 NP_075601,EAW81548,Q8WYS4,Q96DC9,Q9BWI9,EAW81549,AAL55885,BAB15172,AAO27703,AAH00208,AAH09615,AAH68058,CAG33626,ADQ32027 Hs.278815 C14orf137|FLJ21916|MGC3102|OTB2|OTU2 OTU domain-containing ubiquitin aldehyde-binding protein 2|deubiquitinating enzyme OTUB2|otubain-2|ubiquitin thioesterase OTUB2|ubiquitin-specific protease otubain 2|ubiquitin-specific-processing protease OTUB2 protein-coding 1344729 OTUD1 OTU domain containing 1 Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 17991829,15164054,14702039,10664582,19615732 220213 NM_001145373,AL512603,AB188491,AI261652,AK096389 NP_001138845,CAH73715,Q5VV17 Hs.499042 DUBA7|OTDC1 DUBA-7|OTU domain-containing protein 1 protein-coding 1604042 OTUD3 OTU domain containing 3 16710414,12477932,11181995,9455484,20228799,19122664,19915572,20228798 23252 NM_015207,AL358253,AL391883,CH471134,AA829387,AB007928,BC119636,BC134416,CR609865,CR613908,CV573628 NP_056022,CAI17041,EAW94905,BAA32304,AAI19637,AAI34417,Q0VDK5,Q5T2D3 Hs.374987 DUBA4|KIAA0459|RP11-460G22.1 OTU domain-containing protein 3 protein-coding 1603307 OTUD4 OTU domain containing 4 Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq] 17353931,17081983,16964243,16344560,15592455,15489334,15302935,15144186,14702039,12477932,10470851,8889548,1475186,19615732 54726 NM_001102653,NM_017493,AC096757,CH471056,DQ427109,AB028969,AK056597,AK302581,AL137460,AU139986,BC020682,BC057242,BC118572,BC118653,BM471766,CA313890,CR592200,DB446926,X68242 NP_001096123,NP_059963,EAX05042,EAX05043,EAX05044,EAX05045,EAX05046,EAX05047,EAX05048,ABD72605,BAA82998,BAB71229,BAG63836,CAB70748,AAH57242,AAI18573,AAI18654,CAA48313,Q01804,AAH20682 Hs.270851 DKFZp434I0721|DUBA6|HIN1|HSHIN1|KIAA1046 HIV-1 induced protein HIN-1|HIV-1-induced protein HIN-1|OTTHUMP00000220309|OTTHUMP00000220423|OTTHUMP00000222760|OTU domain-containing protein 4 protein-coding 1604609 OTUD5 OTU domain containing 5 This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 16169070,19615732,17991829,16368877,16344560,16341674,15489334,15302935,15146197,14702039,12477932,10664582,8889548 55593 NM_017602,NM_001136157,NM_001136158,NM_001136159,AF207550,CH471224,AK022612,AK026260,AK294590,AL137509,BC009917,BC011738,BC028225,BC098440,BM797460,BY799160,CB243128,CN368451,DA237046,DC419901 NP_060072,NP_001129629,NP_001129630,NP_001129631,EAW50722,EAW50723,EAW50724,EAW50725,EAW50726,EAW50727,BAB14131,BAB15416,BAG57778,CAB70778,AAH09917,AAH28225,AAH98440,Q96G74 Hs.496098 DKFZp761A052|DUBA|MGC104871 OTTHUMP00000025820|OTU domain-containing protein 5|deubiquinating enzyme A|deubiquitinating enzyme A protein-coding 1605871 OTUD6A OTU domain containing 6A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 14702039,12477932 139562 NM_207320,AL158141,CH471132,AK098697,BC137355,BC137356 NP_997203,EAX05357,BAC05384,AAI37356,AAI37357,Q7L8S5 Hs.447381 DUBA2|FLJ25831|HSHIN6 DUBA-2|HIN-6 protease|OTU domain-containing protein 6A protein-coding 1602119 OTUD6B OTU domain containing 6B Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA5 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 16344560,15489334,12477932,10810093,19615732 51633 NM_016023,AC087439,CH471060,AA748163,AF151836,AK291646,AK293843,AK310823,AL137441,BC029760,BI712470,BX647772,DA034027 NP_057107,EAW91675,EAW91676,AAD34073,BAF84335,BAG57241,CAB70738,AAH29760,Q8N6M0 Hs.30532 CGI-77|DUBA5 DUBA-5|OTU domain-containing protein 6B protein-coding 1351552 OTUD7A OTU domain containing 7A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. OTUD7A belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 20400778,15489334,12477932 161725 NM_130901,AC021316,AC104266,AC104759,CH471216,CQ772591,AJ430383,AK126002,AK308630,BC035668 NP_570971,EAW61269,EAW61270,EAW61271,EAW61272,EAW61273,CAF33875,CAD23047,AAH35668,Q8TE49,AAI72582 Hs.355236 C15orf16|C16ORF15|CEZANNE2|OTUD7 OTU domain-containing protein 7A|cezanne 2|chromosome 15 open reading frame 16|zinc finger protein Cezanne 2 protein-coding 1352780 OTUD7B OTU domain containing 7B 11463333,18029035,18474597,18178551,15489334,15342556,15302935,14748687,12682062,18029348,12477932,9928991,19427028,19615732,20622874 56957 NM_020205,AL358073,AL590487,CH471121,AJ293573,AK299790,AL122102,BC015719,BC020622,BC072681,BP357326,BX641079 NP_064590,CAI12651,CAI12652,EAW53586,EAW53587,CAB97494,BAH13129,CAB59268,AAH20622,AAH72681,Q5SZ59,Q6GQQ9,ABZ92356 Hs.98322 CEZANNE|ZA20D1 OTTHUMP00000014193|OTU domain-containing protein 7B|cellular zinc finger anti-NF-kappa-B protein|cellular zinc finger anti-NF-kappaB Cezanne|zinc finger A20 domain-containing protein 1|zinc finger protein Cezanne|zinc finger, A20 domain containing 1 protein-coding 736236 OTX1 orthodenticle homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper brain and sensory organ development and can cause epilepsy. [provided by RefSeq] 1580863 19018235,18849347,16189514,15815621,15489334,15105370,14702039,12477932,11901358,10624946,9520436,8841200,8101484,7959790,20354145,19414065,19447967,19767753,19893048,15342556,8889548 5013 NM_014562,AB037501,AC009501,CH471053,AK095680,AK297308,BC007621,BM720707,BP310240,BU689444,NM_001199770 NP_055377,BAA90421,AAY24357,EAW99966,EAW99967,EAW99968,BAG53106,BAG59774,AAH07621,P32242,Q9P2R2,ABM84227,ABM87508,NP_001186699 Hs.445340 FLJ38361|MGC15736 homeobox protein OTX1|orthodenticle homolog 1 protein-coding 1313892 OTX2 orthodenticle homeobox 2 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper forebrain development. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants may exist, but their full length sequences have not been determined. [provided by RefSeq] 1580863 20354145,20573704,15705863,16267555,19414065,18854396,18849347,18781617,18728160,18666230,17905480,17541950,17060451,16713569,16712695,16607563,15846561,15705891,15489334,15105370,12663655,12559959,12477932,10623575,10372988,10354480,9520436,8101484,7959790,12642491,15890343,19686387,19956411,19965921,20028867,20057906,20396904,20494911,19913121,20530484,20628086 5015 NM_021728,NM_172337,NG_008204,AB037505,AF298117,AL161757,CH471061,AF093138,AK314271,BC032579,BE781530 NP_068374,NP_758840,BAA90425,AAG16243,EAW80692,EAW80693,AAD31385,BAG36932,AAH32579,P32243,ABM81801,ABW03293 Hs.288655 MCOPS5|MGC45000 homeobox protein OTX2|orthodenticle homolog 2 protein-coding 1603916 OVCA2 candidate tumor suppressor in ovarian cancer 2 2302168 17207965,11979432,16368187,14702039,12477932,8616839,16712791 2302168 124641 NM_080822,AC090617,AF335321,CH471108,AF073528,AF321875,BC040696,BC041170,CB137429 ADQ33012,NP_543012,AAN04659,EAW90568,AAC62628,AAL35713,AAH40696,AAH41170,Q8WZ82,ACT64486,ACT64487 Hs.513856 candidate tumor suppressor in ovarian cancer 2|ovarian cancer gene-2 protein|ovarian cancer-associated gene 2 protein protein-coding 1343843 OVCH1 ovochymase 1 1580863 12838346,16541075 341350 NM_183378,AC012151,CH471094,BN000128 NP_899234,EAW96595,EAW96596,CAD67579,Q7RTY7,AAI52895,AAI56870 Hs.674588 OVCH ovochymase-1 protein-coding 1602408 OVCH2 ovochymase 2 16554811,12838346,19557197 341277 NM_198185,AC104237,BN000120,CH471064 NP_937828,CAD66452,EAW68647,Q7RTZ1,AAI60173 Hs.532475 OVTN oviductin protease|ovochymase-2 protein-coding 1344116 OVD1A 2-oxoisovalerate dehydrogenase (lipoamide) 5014 1349339 OVGP1 oviductal glycoprotein 1, 120kDa This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq] 1580863 16169070,20130498,9109822,20800603,9341614,18834073,16710414,16567366,16209999,15585630,15489334,14641477,11818519,7819450,3278893,10728974,12503889,12477932 5016 NM_002557,AF189710,AL390195,CH471122,U58010,AA909093,AB208783,AK295207,AK298757,AK301726,AK314074,AY189737,BC126177,BC136406,U09550 NP_002548,AAF01065,CAC36039,EAW56491,EAW56492,AAB04126,BAD92020,BAG58203,BAG60899,BAG63192,BAG36774,AAO37816,AAI26178,AAI36407,AAA86946,Q12889,Q59HH5,Q86YN0,Q9UJZ3 Hs.1154 CHIT5|EGP|MUC9|OGP estrogen-dependent oviduct protein|mucin 9|mucin-9|oviduct glycoprotein|oviduct-specific glycoprotein|oviductin protein-coding 1315865 OVOL1 ovo-like 1(Drosophila) This gene encodes a protein highly similar to Drosophila and mouse proteins. In Drosophila the ovo protein plays a critical role in Drosophila oogenesis and cuticle formation. In mice the ovo like protein is involved in hair formation and spermatogenesis. The function of the human gene product has not been determined. [provided by RefSeq] 1580863 9808631,9383297,15489334,12477932,18029348,20379614,20383146 5017 NM_004561,AP001266,CH471076,AF016045,AK291711,AL702845,BC043146,BC059408,BX648725 NP_004552,EAW74439,AAB72084,BAF84400,AAH43146,AAH59408,CAH56127,O14753,Q86XL8,ABZ92428,ACE87552,ACE86864 Hs.134434 HOVO1 ovo homolog-like 1|putative transcription factor Ovo-like 1 protein-coding 1314567 OVOL2 ovo-like 2 (Drosophila) 1580863 15489334,14702039,12477932,12213202,11780052,19700410 58495 NM_021220,AL121585,AL160411,CH471133,AK022284,AL079276,BC006148,BT007295,CR604525 NP_067043,CAI14857,CAI22534,EAX10258,EAX10259,BAB14002,CAB45151,AAH06148,AAP35959,Q9BRP0 Hs.661013,Hs.710157 EUROIMAGE566589|ZNF339 hOvo2|transcription factor Ovo-like 2|zinc finger protein 339 protein-coding 1316768 OXA1L oxidase (cytochrome c) assembly 1-like 1580863 7991568,9247084,17936786,19349278,15489334,15342556,12477932,12191770,8586451,12972568,18029348,20601428,20739282,20877624,20677014 5018 CR591626,CR595927,CR597770,CR599195,CR600101,CR600198,CR600580,CR601613,CR603361,CR604517,CR605168,CR607911,CR612470,CR619654,CR619931,CR619987,CR620768,CR621151,CR623151,CR623590,CR624667,CR625703,X80695,AJ001981,AL135998,CH471078,AK294849,AK298249,BC001669,BC112331,BP303816,BP330984,BQ029315,BX248001,BX248295,CR591385,NM_005015 CAA56712,Q15070,Q2M1J6,NP_005006,CAA05127,EAW66249,BAG57953,BAG60514,AAH01669,AAI12332,CAD62333,CAD62623 Hs.151134 MGC133129|OXA1 OTTHUMP00000211622|OXA1-like protein|OXA1Hs|hsa|mitochondrial inner membrane protein OXA1L|oxidase assembly 1-like protein protein-coding 1312252 OXCT1 3-oxoacid CoA transferase 1 This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq] 1580863,2326198,2326100,2326201,2326093,2326185,2326191 18029348,19296078,20381070,8751852,10964512,11756565,18648183,17706444,16765626,15496607,15489334,14702039,12477932,9671268,9380443,6150478,1405472,20877624 2326198,2326100,2326201,2326093,2326185,2326191 5019 NG_011823,AB029576,AC008817,AC034222,AC114946,CH471119,AK125115,AK298352,AK299668,AK312327,AK315902,BC009001,BE244429,CR457049,CR590281,CR611841,EF095213,U62961,NM_000436,HH961782 NP_000427,BAB13733,EAW56014,EAW56015,BAH12764,BAH13095,BAG35249,BAH14273,AAH09001,CAG33330,ABL01517,AAB07366,P55809,Q6IAV5,ABM82731,ABM85915,CBX51364 Hs.278277 OXCT|SCOT 3-oxoacid-CoA transferase 1|OTTHUMP00000221550|SCOT-s|somatic-type succinyl CoA:3-oxoacid CoA-transferase|somatic-type succinyl-CoA:3-oxoacid-CoA-transferase|succinyl CoA:3-oxoacid CoA transferase|succinyl-CoA:3-ketoacid-CoA transferase|succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial protein-coding 1315859 OXCT2 3-oxoacid CoA transferase 2 OXCT2 is a testis-specific succinyl-CoA:3-oxoacid CoA transferase (EC 2.8.3.5), which catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate in the first step of ketone body utilization. See also OXCT1 (MIM 601424).[supplied by OMIM] 1580863,2326216 11756565,15489334,14702039,12477932,11327867,11214971 2326216 64064 NM_022120,AL033527,AB050193,AK024440,AK093089,AK314586,AY013700,BC030015,BC072388,HC007202 NP_071403,CAI19402,BAB40810,BAB15730,BAG52651,BAG37161,AAG33922,AAH72388,Q6INA3,Q9BYC2,Q9H7N8,ABM84266,ABM87659,CBH19406 Hs.472491 FKSG25|FLJ00030|SCOTT 3-oxoacid-CoA transferase 2A|succinyl-CoA:3-ketoacid-coenzyme A transferase 2, mitochondrial|testis-specific succinyl CoA:3-oxoacid CoA-transferase|testis-specific succinyl-CoA:3-oxoacid CoA-transferase protein-coding 1348789 OXCT2P 3-oxoacid CoA transferase 2 pseudogene 11756565 192217 NG_001331,AB052900,AL365277 OXCT2P pseudo 1346676 OXER1 oxoeicosanoid (OXE) receptor 1 1580863 18821565,15815621,15489334,15001665,14702039,12606753,12477932,12044878,2834384,18577758,12065583,16289380 165140 NM_148962,AB065652,AB083630,AC098824,CH471053,AB083055,AY158687,BC063549 NP_683765,BAC05878,BAB89343,AAY14700,EAX00312,BAC11806,AAO17739,AAH63549,Q8TDS5 Hs.168439 GPCR|GPR170|TG1019 5-oxo-ETE G-protein coupled receptor|5-oxo-ETE acid G-protein-coupled receptor 1|G-protein coupled receptor 170|G-protein coupled receptor R527|G-protein coupled receptor TG1019|oxoeicosanoid receptor 1 protein-coding 1346637 OXGR1 oxoglutarate (alpha-ketoglutarate) receptor 1 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1331359 12098360,15489334,15141213,15057823,15001573,12477932,12044878,11574155,19760608,20379614 1331359 27199 NM_080818,AB065877,AB083598,AF411109,AL356486,CH471085,CQ798086,AF370886,AJ305372,AK122639,AK313684,BC103881,BC103882,BC103883 NP_543008,BAC06095,BAB89311,AAL26480,CAI16508,EAX08964,CAG26849,AAM76912,CAC83857,BAG53633,BAG36433,AAI03882,AAI03883,AAI03884,Q96P68 Hs.352218 GPR80|GPR99|MGC119206|MGC119207|MGC119208|P2RY15|P2Y15 2-oxoglutarate receptor 1|G protein-coupled receptor 80|G protein-coupled receptor 99|G-protein coupled receptor 80|G-protein coupled receptor 99|P2Y purinoceptor 15|P2Y-like GPCR|P2Y-like nucleotide receptor|alpha-ketoglutarate receptor 1|seven transmembrane helix receptor protein-coding 1603935 OXNAD1 oxidoreductase NAD-binding domain containing 1 17207965,20877624,12477932 92106 NM_138381,AC090953,CH471055,AB209556,AK298829,AK307258,AL583453,AL832787,BC007285,BC008322,BC018770,BE018369,CR603194,CR610840,CR614426,CR616590,DQ364598,DC321860 EAW64270,NP_612390,ADQ32643,EAW64271,EAW64272,BAD92793,BAG60959,AAH08322,ABC95193,Q96HP4 Hs.655449 MGC15763 OTTHUMP00000211112|oxidoreductase NAD-binding domain-containing protein 1 protein-coding 736990 OXR1 oxidation resistance 1 1580863 11114193,17516841,17391516,17081983,16344560,15489334,15060142,14702039,12880961,12477932,8889548,20877624 55074 FN650108,FN650109,NM_018002,NM_181354,AC023344,AC027031,AC090579,AP000430,AP002090,CH471060,DQ020202,AB075503,AF309387,AK000987,AK096148,AK123667,AK124441,AK292899,AK296561,AK302844,AK303695,AL833193,BC019691,BC032710,BC035484,BM472225,BM682193,CR596350,DA544318,AK098168,BM668428,DA232248,DC366184,NM_001198532,NM_001198533,NM_001198534,NM_001198535,AK316153 CBI84064,CBI84065,NP_060472,NP_851999,EAW91903,EAW91904,EAW91905,AAY26396,BAE45753,AAG25715,BAA91456,BAC04711,BAC85852,BAF85588,BAH12388,BAH13819,BAH14021,CAI46186,AAH19691,AAH32710,Q05CY8,Q8N573,ABM81826,ABM84979,BAH14524,NP_001185461,NP_001185462,NP_001185463,NP_001185464 Hs.148778 FLJ10125|FLJ38829|FLJ40849|FLJ41673|FLJ42450|FLJ45656|Nbla00307 oxidation resistance protein 1|putative protein product of Nbla00307 protein-coding 1603026 OXSM 3-oxoacyl-ACP synthase, mitochondrial This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described. 15668256,16344560,15489334,14702039,12477932,9373149,8125298,18029348,20877624,11256614 54995 NM_017897,NM_001145391,NR_026937,AC092798,CH471055,AK000611,AK225260,AK304821,BC008202,CR591217,CR596080,CR620964,CR626836,DA916187,HC909479,HC912803 NP_060367,NP_001138863,EAW64367,EAW64368,EAW64369,BAA91286,BAG65569,AAH08202,Q9NWU1,CBN69072,CBN70680 Hs.55781 FASN2D|FLJ20604|KASI|KS 3-ketoacyl-acyl carrier protein synthase|3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial|3-oxoacyl-acyl-carrier-protein synthase|acyl-malonyl acyl carrier protein-condensing enzyme|beta-ketoacyl synthase|beta-ketoacyl-ACP synthase|type II mitochondrial beta-ketoacyl synthase protein-coding 1351310 OXSR1 oxidative-stress responsive 1 The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq] 1580863 14707132,17353931,10083736,18029348,17721439,17081983,16832045,16669787,16389068,16263722,15761153,15489334,15345747,15302935,12477932,12386165,10470851,10231028,18270262,18831043,19177573,20889219 9943 NM_005109,AP006193,AP006308,AP006309,CH471055,DQ201638,AB017642,AB029024,AF087893,AK309634,BC008726,BI090706 NP_005100,EAW64522,EAW64523,EAW64524,EAW64525,ABA27097,BAA75674,BAA83053,AAP97192,AAH08726,O95747,ABM84181,ABM87583 Hs.475970 KIAA1101|OSR1 OTTHUMP00000209062|oxidative stress-responsive 1 protein|serine/threonine-protein kinase OSR1 protein-coding 737586 OXT oxytocin, prepropeptide There are two proteins encoded by this gene, oxytocin and neurophysin I. Oxytocin is posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq] 1580863,1579892,2304129,2304139,2304111,2304174,2304192,2304127,2304087,2304105,1579891 19481007,19500216,19587265,19598235,19672816,19874574,19943975,20196918,20220015,20371820,20436377,20468064,20547007,17474147,10218979,19473710,19347709,19336370,19335381,19086053,19058789,19005082,19001515,18940936,18794210,18568974,18566739,18461271,18384894,18207134,18008328,17931766,17492653,17252002,17137561,16778082,16678285,15489334,15093695,15089975,14607844,13591312,12843193,12834028,12832367,12712516,12477932,12475731,12183418,12126740,11780052,11140838,10829090,10698266,9665335,9501254,7262323,6574452,6153132,4065330,3768139,3008332,2991279,2249637,1486803,12173,20547038,20602615,16754659,20144509,20399783,21073007 1579892,2304129,2304139,2304111,2304174,2304192,2304127,2304087,2304105,1579891 5020 NM_000915,AL160414,AY082910,CH471133,CQ753275,M11186,BC069144,BC101841,BC101843,M25650,M62611,X03173 NP_000906,CAC10204,AAL92860,EAX10555,CAF32560,AAA98806,AAH69144,AAI01842,AAI01844,AAA59977,AAA59979,CAA26936,P01178 Hs.113216 MGC126890|MGC126892|OT|OT-NPI neurophysin I|oxytocin, prepro- (neurophysin I)|oxytocin-neurophysin 1|oxytocin-neurophysin I, preproprotein protein-coding 736017 OXTR oxytocin receptor The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq] 1579892,2304092,2304192,2304174,1579893,1579891,1580863 12477932,15452121,19423652,19598235,19777562,19845972,19934046,19943975,20094064,20096818,20097922,20196918,20303388,20347913,20400491,20436377,20452482,20488544,20547007,8593830,8593829,8077313,7921229,7798245,7607693,20670427,10858434,1313946,10910058,19515497,19461999,19376182,19347709,19336370,19126785,19086053,19015103,19001515,18312604,18207134,18082926,17952758,17939166,17893705,17728669,17726073,17492653,17383819,17148753,16966388,16888077,16333859,16042376,15992526,15831296,15705593,15591449,15093695,15089977,15089975,15044599,15035619,14749664,14691010,14664707,12955084,12843193,12810550,12270111,12166628,12161007,12126740,11955056,11279203,11140838,10698266,10453463,10027615,9433921,9283088,16754659,20832055,20547038,20585395,20647384,20673868,20708845,20724662,20413116 1579892,2304092,2304192,2304174,1579893,1579891 5021 NM_000916,AC068312,CH471055,X80282,AK313830,AY389507,BC137443,X64878 NP_000907,EAW63947,CAA56562,BAG36564,AAQ91333,AAI37444,CAA46097,P30559 Hs.2820 OT-R oxytocin receptor protein-coding 1604059 P11 26 serine protease This gene encodes a protein with protease activity. Its specific function has not been determined. The protein may be useful as a tumor marker. [provided by RefSeq] 1710108,2350438,6755403,18936097,16303743,15489334,12477932,15755742,16344560,20379614 8909 NM_006025,AC004241,CH471111,AK075446,AK295963,AK300169,AK302308,AK314688,BC069698,BC069715,BC074763,BC111782,CR592392,CR606110,M32402,M36109,AI039727,DA838842,DA841959,DC381238,NM_001172439,NM_001172440 NP_006016,EAW57940,EAW57941,BAG52139,BAH12230,BAH13227,BAH13670,BAG37240,AAH69715,AAH74763,AAI11783,AAA36464,AAA36465,P21128,NP_001165910,NP_001165911 Hs.997 MGC133268|P11|PP11|PRSS26 22 serine protease|26 serine protease|placental protein 11|poly(U)-specific endoribonuclease|protein endoU|uridylate-specific endoribonuclease protein-coding 1353221 P200 p200 cell surface protein 5035 736780 P2RX1 purinergic receptor P2X, ligand-gated ion channel, 1 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle, being responsible, for example, for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. It is possible that the development of selective antagonists for this receptor may provide an effective non-hormonal male contraceptive pill. [provided by RefSeq] 1580811,1580863 19552691,19635923,19808895,20024498,20068232,20110693,9565569,2457808,17895406,8834001,19118095,18765669,18480058,17399929,16997281,16634759,16546137,16529657,16420578,16359770,16236030,16113781,16006561,15686781,15489334,15313628,15087444,14699168,14675100,14557870,14500714,12907444,12791671,12521992,12495655,12477932,12353081,12270951,12239162,12135734,11816716,11815371,11809854,11376948,10816552,10638758,9558372,8809107,20374431,17207965,20660288,20345709,20699225 1580811 5023 NM_002558,NG_012109,A47363,AC005940,AF078925,AF177472,CH471108,AF020498,AK313264,BC027949,BC044657,U45448,X83688 NP_002549,CAA03057,AAC32187,AAD55395,EAW90471,EAW90472,EAW90473,AAC24494,BAG36073,AAH27949,AAH44657,AAC50698,CAA58657,P51575,Q6PIW1,Q71UK3,ADQ32985 Hs.41735 P2X1 ATP receptor|P2X purinoceptor 1|P2X receptor, subunit 1|P2X1 receptor protein-coding 733979 P2RX2 purinergic receptor P2X, ligand-gated ion channel, 2 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Six transcript variants encoding six distinct isoforms have been identified for this gene. [provided by RefSeq] 633343,1580863 17895406,9119082,18922787,18487206,15657042,15331767,15313628,14660627,12477932,12395104,12270951,10935636,10570044,7566120,7523952,20426799,20699225,19104511,19793987 633343 22953 AF190823,AF190824,AF190825,AF260426,AF260427,AF260428,AF260429,AY346374,BC109200,NM_170683,NM_170682,NM_174873,NM_016318,NM_012226,NM_174872,AC131212,AF190826,CH471218,AF109387,AF109388,AF190822 AAF19171,AAF19172,AAF19173,AAF74201,AAF74202,AAF74203,AAF74204,AAQ54329,AAI09201,Q32MC3,Q9UBL9,NP_733783,NP_733782,NP_777362,NP_057402,NP_036358,NP_777361,AAF19174,EAW54835,EAW54836,EAW54837,EAW54838,EAW54839,EAW54840,AAD42947,AAD42948,AAF19170 Hs.258580 MGC129601|P2X2 ATP receptor|P2X Receptor, subunit 2|P2X purinoceptor 2 protein-coding 735321 P2RX3 purinergic receptor P2X, ligand-gated ion channel, 3 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and may transduce ATP-evoked nociceptor activation. Mouse studies suggest that this receptor is important for peripheral pain responses, and also participates in pathways controlling urinary bladder volume reflexes. It is possible that the development of selective antagonists for this receptor may have a therapeutic potential in pain relief and in the treatment of disorders of urine storage. [provided by RefSeq] 1580863 19456993,20110693,20308565,20418063,9221902,17895406,18805451,18600577,17052768,15475563,15331767,14520770,12885270,12477932,12270951,11069162,9016352,7566120,7566110,20699225,19960242 5024 NM_002559,AP000781,CH471076,AB016608,BC069162,BC074792,BC074793,BC109287 NP_002550,EAW73736,EAW73737,BAA76515,AAH69162,AAH74792,AAH74793,AAI09288,P56373 Hs.146738 MGC129956|P2X3 ATP receptor|P2X purinoceptor 3|P2X receptor, subunit 3|purinergic receptor P2X3|purinoceptor P2X3 protein-coding 732285 P2RX4 purinergic receptor P2X, ligand-gated ion channel, 4 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants have been identified for this gene although their full-length natures have not been determined. [provided by RefSeq] 9016352,12088286,12819199,17785580,17895406,11606481,15130891,10969036,10899068,17264311,14978347,19283779,19226284,18852390,18678988,18635539,18487206,12477932,12270951,11299224,9373149,9221902,8125298,15006691,12714321,17197037,16949036,16533808,15262999,15167446,19552691,19562525,19913121,20628086,20660288,20699225,19953327 5025 NM_002560,AC069209,AF191093,CH471054,U85971,U87270,AF000234,AF012903,AK225604,AK293599,AK293660,AK297704,AK301080,AK308549,AK308868,BC017458,BC033826,BC035845,BT019738,BT019739,CR609333,CR613665,CR613673,CR623433,DQ851491,U83993,Y07684 NP_002551,AAF06661,EAW98242,EAW98243,EAW98244,EAW98245,EAW98246,AAD00556,AAB58405,AAB66834,BAH11544,BAH11561,BAH12651,BAH13404,AAH33826,AAV38543,AAV38544,ABI31772,AAD00553,CAA68948,Q0GM93,Q5U089,Q99571,ABM81832,ABM84985 Hs.321709 P2X4|P2X4R ATP receptor|ATP-gated cation channel protein|P2X purinoceptor 4|P2X receptor, subunit 4|purinoceptor P2X4 2289606 BW476_H protein-coding 737418 P2RX5 purinergic receptor P2X, ligand-gated ion channel, 5 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Several characteristic motifs of ATP-gated channels are present in its primary structure, but, unlike other members of the purinoceptors family, this receptor has only a single transmembrane domain. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 17207965,17895406,9414125,18719914,17001079,16967306,16322791,14702039,12880424,12787128,12665801,12477932,12270951,10673275,9110174,8619474,20223879 5026 NM_175080,NM_002561,NM_175081,AC132942,AF168787,CH471108,AF016709,AF070573,AK092966,AK290889,AK293610,AK307959,BC006220,BC008319,BC016917,BC028084,BC039015,BM477082,CR612864,CR624034,DQ234349,DQ851492,U49395,U49396 ADQ32997,NP_778255,NP_002552,NP_778256,AAF43105,AAF43106,EAW90482,EAW90483,EAW90484,EAW90485,EAW90486,EAW90487,EAW90488,AAC51931,AAC28645,BAF83578,BAG57073,AAH39015,ABB29978,ABI31773,AAB08576,AAB08577,Q0GM92,Q308M5,Q93086 Hs.408615 LRH-1|MGC47755|P2X5|P2X5R ATP receptor subunit|P2X purinoceptor 5|ionotropic ATP receptor P2X5|lymphoid-restricted histocompatibility antigen-1|purinergic receptor P2X ligand gated ion channel 5 protein-coding 736820 P2RX6 purinergic receptor P2X, ligand-gated ion channel, 6 The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq] 1580863 15313628,12088286,9242461,17895406,19240061,19023099,18852390,17975119,16344560,15657042,15489334,15461802,12477932,12112843,11171941,10591208,8670303 9127 NM_005446,NM_001159554,AB002059,AC002472,CH471176,AB002058,AF065385,AK309079,BC033488,BC047287,BC063553,BC064805,BC109209,BI753477,CR456535,DA333742 NP_005437,NP_001153026,BAA22047,EAX02910,EAX02911,EAX02912,EAX02913,EAX02914,BAA22046,AAF13303,AAH33488,AAH47287,AAH64805,AAI09210,CAG30421,O15547,Q05BG9,Q32MB6,Q6P1Z3,CAK54566,CAK54865 Hs.113275 MGC129625|P2RXL1|P2X6|P2XM ATP receptor|P2X purinoceptor 6|purinergic receptor P2X-like 1, orphan receptor|purinergic receptor p2x-like 1|purinoceptor P2X6|purinoreceptor P2X6|skeletal muscle-expressed P2X protein-coding 2303847 P2RX6P purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene 15809229 440799 NR_002829,AC002472,AY947528 AAX21789,Q5BLP4 Hs.640665 pseudo 730814 P2RX7 purinergic receptor P2X, ligand-gated ion channel, 7 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants which would encode different isoforms have been identified although some fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq] 19931869,20446288,9038151,17785580,17895406,17036048,19453261,19330776,18089587,19328558,19264037,19226284,19225709,19211924,19204004,19201928,19186133,19160446,19151591,19076224,19074885,19068080,19017759,18987356,18971257,18937793,18852390,18801407,18765670,18682393,18678419,18676680,18617511,18614336,18596211,18545980,18543274,18523309,18436590,18268501,18211888,18071294,18040764,17947359,17928361,17558311,17488689,17483156,17482244,17314141,17286963,17257221,17197037,17142754,17130901,17095747,17065105,17065062,17040997,17032903,16822851,16740600,16673375,16624800,16541075,16514055,16424024,16321858,16263709,16228288,16117789,15991050,15972634,15942904,15923180,15901833,15899033,15896293,15862308,15778408,15777864,15728711,15571247,15489334,15475073,15472991,15304508,15184265,15155383,15123679,15120006,15089763,15004138,14976257,14702039,14607949,14510944,12931211,12880424,12874700,12874219,12787128,12759456,12633871,12586825,12493261,12477932,12456589,12424250,12422208,12404161,12270951,11943260,11852049,11707406,11341329,11150303,9826911,9373149,8125298,12107182,20185692,20453110,20450227,20605778,16344560,17474147,19170196,19309360,19396427,19430700,19494237,19548263,19552691,19625176,19682070,19692168,19700502,19748989,19882109,19889958,19891999,20007545,20138022,20164546,20188863,20196868,20351714,20378545,20379614,20424473,20488797,20493226,20535134,20495003,20846359,21041608,20226536,20813842,19913121,20360457,20628086,20661107,20819262,20668222 5027 NM_002562,NG_011471,AC069209,AC079602,CH471054,Y12851,AB209709,AK090866,AK225163,AK290405,AK294126,AK296432,AY847298,AY847299,AY847300,AY847301,AY847302,AY847303,AY847304,BC007679,BC011913,BC121157,BC121158,BI598073,DQ399293,Y09561,DA274887,DA302256,NR_033948,NR_033949,NR_033950,NR_033951,NR_033952,NR_033953,NR_033954,NR_033955,NR_033956,GQ180122 NP_002553,EAW98239,EAW98240,CAA73360,BAD92946,BAG52241,BAF83094,BAH11678,BAH12350,AAX82087,AAX82088,AAX82089,AAX82090,AAX82091,AAX82092,AAX82093,AAH07679,AAH11913,AAI21158,ABD59798,CAA70755,Q0IJ51,Q15G98,Q4VKH8,Q4VKH9,Q4VKI0,Q4VKI1,Q4VKI2,Q4VKI3,Q4VKI4,Q59EV2,Q7Z771,Q99572,ABM84383,ABM87336,ACS72266 Hs.439682 MGC20089|P2X7 ATP receptor|P2X purinoceptor 7|P2X7 receptor|P2Z receptor|purinergic receptor P2X7 variant A protein-coding 736104 P2RY1 purinergic receptor P2Y, G-protein coupled, 1 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq] 2315811,1580863,2315809 8630005,19132198,18799799,18502966,18500760,18310463,18270199,18174464,18057028,17824841,17559347,17095747,16848759,16804093,16741950,16634769,16581111,16546137,16267125,15665114,15602005,15590415,15514209,15509659,15496502,15489334,15284110,15203713,15187029,15099288,14644082,12880424,12871508,12787128,12623443,12603858,12477932,12393588,12147294,11904146,11690642,11578839,11390975,11159687,9671706,9442040,9268704,9039850,9038354,8666290,8579591,20070609,14742685,18240029,18577758,19637098,19740098,19934793,20056178,20063989,20192270,20847060,19913121,20473398,20628086 2315811,2315809 5028 NM_002563,AC013251,AJ006945,CH471052,S81950,AF018284,AY136752,BC074784,BC074785,U42029,U42030,Z49205 NP_002554,CAA07339,EAW78773,AAB47091,AAB94556,AAN01278,AAH74784,AAH74785,AAA97872,AAA97873,CAA89066,P47900 Hs.654526 P2Y1 ATP receptor|P2 purinoceptor subtype Y1|P2Y purinoceptor 1|platelet ADP receptor protein-coding 1343009 P2RY10 purinergic receptor P2Y, G-protein coupled, 10 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. Two alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq] 1580863 18577758,18466763,15772651,15489334,12477932,11004484,10570953,9755289,16754659,18240029 27334 NM_014499,NM_198333,AF000545,AY275461,CH471104,Z82200,AK292138,AK313218,AW294346,BC051875,BC095498,CD639881,NG_013276 NP_055314,NP_938147,AAB57836,AAP32293,EAW98594,EAW98595,CAB36889,BAF84827,AAH51875,AAH95498,O00398 Hs.296433 P2Y10 G-protein coupled purinergic receptor P2Y10|P2Y purinoceptor 10|P2Y-like receptor|putative P2Y purinoceptor 10 protein-coding 1346111 P2RY11 purinergic receptor P2Y, G-protein coupled, 11 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq] 1580863 9405388,18726826,18056402,17824841,17707504,17338680,17135283,16926152,15489334,12477932,12077223,11690642,11278528,10947861,7566098,12036966,20668227,16754659,18048695 5032 NM_002566,AC020931,CH471106,AA310412,AF498921,AJ298334,AK313550,AY449733,BC009877,BC073827 NP_002557,EAW84077,AAM18130,CAC29362,BAG36326,AAR18077,AAH73827,Q96G91 Hs.14468 P2Y11 P2Y purinoceptor 11|P2Y11 receptor|purinergic receptor P2Y11 protein-coding 1354000 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelets aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Two transcript variants encoding the same isoform have been identified for this gene. [provided by RefSeq] 1580189,633493,1580186,1580863,1580187,1580188 19913121,20473398,20628086,20691446,20589315,20873239,21071695,11196645,19530321,19525944,19334620,19237732,19132197,19106083,19056482,18836720,18800613,18787507,18755689,18726826,18577829,18485500,18278193,18213371,18175333,18004210,17995973,17803810,17707382,17337040,17127487,16840732,16837456,16804093,16769602,16581111,16405973,16236603,16185654,16181985,15968399,15933261,15886804,15869601,15795539,15665114,15602005,15514209,15489334,15483100,15464998,15304052,15284110,15203713,15187029,15142872,15099288,14717977,14662702,14645014,14644082,12912815,12668663,12623443,12606772,12578987,12560222,12477932,12080041,12044878,11502873,11502870,11104774,8554519,20930120,18240029,18577758,19012950,19229056,19531897,19552634,19576320,19578796,19740098,19757325,19822647,19914687,20031628,20063989,20068232,20126830,20162250,20379614,19783848,20630458,20599922 1580189,633493,1580186,1580187,1580188 64805 NM_022788,NM_176876,AB083596,AC024886,AF310685,CH471052,AB052684,AF313449,AF321815,AJ320495,AK292096,AK303714,AK316575,AY136754,BC017898,BM926255,NG_016019 NP_073625,NP_795345,BAB89309,AAL32292,EAW78803,EAW78804,BAB60824,AAG48944,AAK00948,CAC87144,BAF84785,BAG64695,BAG38164,AAN01280,AAH17898,Q9H244,ABM84112,ABM87505 Hs.591281 ADPG-R|HORK3|P2T(AC)|P2Y(AC)|P2Y(ADP)|P2Y(cyc)|P2Y12|SP1999 ADP-glucose receptor|G-protein coupled receptor SP1999|Gi-coupled ADP receptor HORK3|P2Y purinoceptor 12|P2Y12 platelet ADP receptor|purinergic receptor P2RY12|putative G-protein coupled receptor protein-coding 1602708 P2RY13 purinergic receptor P2Y, G-protein coupled, 13 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq] 16344560,12477932,12044878,11961076,11574155,11546776,11273702,18577758,19913121,20628086,18240029 53829 NM_176894,AB083597,AC024886,AF411113,CH471052,CS173029,AF178982,AF295368,AF345565,AF406692,AK313208,BC029363,BC041116,BC066887,DA676457 NP_795713,BAB89310,AAL26484,EAW78805,EAW78806,EAW78807,CAJ33696,AAK18752,AAK01864,AAK29068,AAL01038,BAG36024,AAH29363,AAH41116,AAH66887,Q9BPV8 Hs.546396 FKSG77|GPCR1|GPR86|GPR94|P2Y13|SP174 G protein-coupled receptor 86|G-protein coupled receptor 86|G-protein coupled receptor 94|P2Y purinoceptor 13 protein-coding 1347256 P2RY14 purinergic receptor P2Y, G-protein coupled, 14 The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863 2834384,10753868,18690346,17088057,17016747,16475938,16263727,16257449,16109883,15829433,15489334,15481977,14559350,12902497,12842911,12695547,12559763,12477932,12369950,11524702,11273702,10704288,9295203,8011297,7584028,7584026,16820147,18240029,19454705,18577758 9934 NM_014879,NM_001081455,AC078816,AF456925,CH471052,CS173021,AK289617,BC034989,CD110153,D13626,EF577400 NP_055694,NP_001074924,AAL47764,EAW78809,EAW78810,CAJ33692,BAF82306,AAH34989,BAA02791,ABQ52420,Q15391 Hs.2465 GPR105|KIAA0001|P2Y14 G protein coupled receptor for UDP-glucose|G protein-coupled receptor 105|G-protein coupled receptor 105|OTTHUMP00000216780|P2Y purinoceptor 14|P2Y(14) receptor|P2Y14 receptor|UDP-glucose receptor protein-coding 1352486 P2RY2 purinergic receptor P2Y, G-protein coupled, 2 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to both adenosine and uridine nucleotides. It may participate in control of the cell cycle of endometrial carcinoma cells. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863,2315809,2316687 18577758,17137217,16741950,16545868,16543499,16495779,16311903,16186116,15908695,15778502,15590415,15489334,15175347,14670955,14645014,14613890,12880424,12787128,12714597,12691958,12603858,12477932,11690642,11331301,10770202,9535005,9489506,9286708,9211988,7779087,8159738,19118095,18568944,18506388,18475022,18434089,17609252,17599409,17452627,17186500,17170310,8643996,8248130,7809171,18240029,19634190,19710694,19734210,19735076,19763137,19797825,19808895,19836435,19996104,20022380,20056178,20064929,20427708,16754659,20630102,19913121,20089844,20628086 2315809,2316687 5029 NM_176072,NM_002564,NM_176071,AP002761,CH471076,AK313942,AY136753,BC012104,BC028135,FJ599700,U07225 NP_788086,NP_002555,NP_788085,EAW74882,EAW74883,EAW74884,BAG36660,AAN01279,AAH12104,AAH28135,ACS66694,AAC04923,P41231,ABM83184,ABM86386 Hs.339 HP2U|MGC20088|MGC40010|P2RU1|P2U|P2U1|P2UR|P2Y2|P2Y2R ATP receptor|P2U nucleotide receptor|P2U purinoceptor 1|P2Y purinoceptor 2|purinergic receptor P2Y2|purinoceptor P2Y2 protein-coding 731552 P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. [provided by RefSeq] 1580863 8537336,8537335,15772651,15649700,15489334,14670966,12623123,12603858,12477932,12130504,11690642,11290369,11114308,9535005,9268704,8700127,8617367,18240029,18577758 5030 NM_002565,AL357752,CH471132,CQ859820,U40223,X91852,X96597,BC095503,BC096067,BC096068,BC096069,BC096070,NG_013250 NP_002556,CAI41492,EAX05352,CAH25959,AAC50347,CAA62963,CAA65415,AAH95503,AAH96067,AAH96068,AAH96069,AAH96070,P51582 Hs.673854 NRU|P2P|P2Y4|UNR P2Y purinoceptor 4|uridine nucleotide receptor protein-coding 736435 P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. Four transcript variants encoding the same isoform have been identified for this gene. [provided by RefSeq] 1580863 17971163,18240029,19011163,19735076,20379614,16754659,8670200,19124756,19008857,18250478,17762175,16543499,16322472,15796906,15498874,15489334,12716436,12691958,12623123,12477932,12464620,11788430,11690642,11114308,9542531,9412455,9286708,9268704 5031 NM_176797,NM_176798,NM_004154,AP002761,CH471076,AF007891,AF007892,AF007893,AF218005,AF498920,AL520218,BC000571,BC009391,BT006771,CR597500,CR598708,CR598765,CR605588,CR606834,NM_176796,CR612681,CR614658,CR617080,CR618945,CR626266,CR626706,CR626754,U52464,X97058 NP_789766,NP_789767,NP_789768,NP_004145,EAW74886,EAW74887,EAW74888,EAW74889,EAW74890,AAB80712,AAB80713,AAG17247,AAM18129,AAH00571,AAH09391,AAP35417,AAB03572,CAA65770,Q15077,ABM81686,ABM84534,ABM86072 Hs.16362 MGC15335|P2Y6 G-coupled nucleotide receptor|P2 purinoceptor|P2Y purinoceptor 6|P2Y6 receptor protein-coding 1350225 P2RY8 purinergic receptor P2Y, G-protein coupled, 8 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq] 1580863 17554380,17487742,15772651,15489334,15466006,14702039,12477932,11004484,20378752 286530 NM_178129,AL683870,CH471074,AI476104,AI494365,AK092956,AL833184,BC012792,BC043610,BE245848,AL691415,NG_013252 NP_835230,CAI39849,EAW98683,AAH43610,Q86VZ1 Hs.111377 MGC50878|P2Y8 G-protein coupled purinergic receptor P2Y8|P2Y purinoceptor 8 protein-coding 731788 P4HA1 prolyl 4-hydroxylase, alpha polypeptide I This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 16385451,19890397,20379614,2543975,18029348,16885164,16877351,16837461,16488890,16464861,16344560,15489334,15369792,15164054,15028279,12477932,9417920,9373149,9211872,8125298,7961714,2556027 5033 NM_001017962,NM_001142595,NM_001142596,AL731563,CH471083,NM_000917,U14620,AA780802,AI061083,AK222960,AK312593,AL702003,BC034998,CD013929,CD013930,CR590114,DB030709,M24486,M24487 NP_000908,NP_001017962,NP_001136067,NP_001136068,CAH72753,CAH72754,EAW54467,EAW54468,EAW54469,EAW54470,AAA59068,AAA59069,BAD96680,AAH34998,AAA36534,AAA36535,P13674,Q5VSQ6,ABM82595,ABM85781 Hs.593005,Hs.500047 P4HA C-P4Halpha(I)|OTTHUMP00000019793|OTTHUMP00000019794|collagen prolyl 4-hydroxylase alpha(I)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I|procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1|prolyl 4-hydroxylase subunit alpha-1 protein-coding 1320142 P4HA2 prolyl 4-hydroxylase, alpha polypeptide II This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 9211872,14667819,19131452,17213842,16917063,16885164,16877351,16344560,15489334,14500733,12824157,12477932,11606192,7753822,19615732,20628624 8974 AC034220,AC063976,AJ314859,CH471062,AU117989,AY358970,BC017062,BC025960,BC035813,BI758477,BX647924,DA544450,U90441,NM_001017973,NM_001017974,NM_001142599,NM_001142598,NM_004199 NP_001017973,CAC85688,CAC85689,EAW62341,EAW62342,EAW62343,EAW62344,EAW62345,EAW62346,EAW62347,EAW62348,AAQ89329,AAH17062,AAH35813,CAI46066,AAB71339,O15460,Q05DA4,Q5HYD8,ABM83357,ABW03320,NP_001017974,NP_001136071,NP_001136070,NP_004190 Hs.519568 4-PH alpha 2|4-PH alpha-2|C-P4Halpha(II)|OTTHUMP00000065969|collagen prolyl 4-hydroxylase alpha(II)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II|procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2|prolyl 4-hydroxylase subunit alpha-2 protein-coding 1346978 P4HA3 prolyl 4-hydroxylase, alpha polypeptide III This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq] 731224,1580863 16885164,14500733,12874193,12477932,20379614 731224 283208 NM_182904,AP001085,CH471076,AK300598,AL833965,AY313448,AY327887,AY358521,BC040582,BC089446,BC117333,BC126170,CR602823 NP_878907,EAW74934,EAW74935,EAW74936,BAG62295,CAI46215,AAQ87603,AAP97874,AAQ88885,AAH89446,AAI17334,AAI26171,Q7Z4N8 Hs.660541 4-PH alpha-3|C-P4H alpha III|collagen prolyl 4-hydroxylase alpha(III)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III|procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3|prolyl 4-hydroxylase subunit alpha-3 protein-coding 733481 P4HB prolyl 4-hydroxylase, beta polypeptide This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq] 1580863 14702039,14592831,14500733,12874193,12665801,12643545,12485997,12477932,12475965,12218052,12218051,12095988,11847130,11790298,11707400,11257307,11181151,10636893,10436013,10383197,10329688,9399589,9150948,8672469,8580850,7753822,17055437,17353931,2846539,15308636,12493773,3034602,14718574,17081065,16847061,16344560,16303743,16169070,15952740,15695804,15644496,15611098,15590633,15489334,15358778,15158710,14871477,8111381,3611107,3467900,3342239,3032969,2079031,1699755,1667665,1597478,1559965,1339453,1286669,15146195,15324660,1677563,18029348,19890397,19913121,20628086,20668226 5034 AC145207,CH471099,M22806,S37207,AB062434,AK075503,AK095938,AK128783,AK296206,AK297081,AK297967,AK298005,AK300561,NM_000918,AK308600,AK315631,AU131354,BC010859,BC014504,BC018801,BC029617,BC071892,BX353203,CA412209,CR592927,CR600518,CR602877,CR603259,CR605884,CR607735,CR609355,CR611495,CR620228,DB466371,J02783,X05130,X07077,CR625953,AC174470 NP_000909,EAW89690,EAW89691,EAW89692,EAW89693,EAW89694,EAW89695,EAW89696,AAC13652,AAB22262,BAB93497,BAG53171,BAG54732,BAG58932,BAG59598,BAG60277,BAG60311,BAG62267,BAG37999,AAH10859,AAH14504,AAH29617,AAH71892,AAA61169,CAA28775,CAA30112,P07237,Q8NI86,Q96C96 Hs.464336 DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHB cellular thyroid hormone-binding protein|collagen prolyl 4-hydroxylase beta|glutathione-insulin transhydrogenase|p55|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide|prolyl 4-hydroxylase subunit beta|protein disulfide isomerase family A, member 1|protein disulfide isomerase-associated 1|protein disulfide isomerase/oxidoreductase|protein disulfide-isomerase|protocollagen hydroxylase|thyroid hormone-binding protein p55|v-erb-a avian erythroblastic leukemia viral oncogene homolog 2-like protein-coding 1607023 P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq] 12163023,17726031,16154531,15489334,15456751,14702039,12788921,12477932,11257307 54681 NM_177938,NM_177939,AC137630,CH471055,AI079878,AK000269,AL713728,AW072069,AY198406,BC000580,BC011710,BC018731,BC047566,BC060321 NP_808807,NP_808808,EAW64934,EAW64935,EAW64936,EAW64937,EAW64938,EAW64939,EAW64940,BAA91045,CAD28518,AAO43431,AAH00580,AAH11710,AAH47566,AAH60321,Q9NXG6 Hs.654944 EGLN4|HIFPH4|P4H-TM|PH-4|PH4|PHD4 HIF-PH4|HIF-prolyl hydroxylase 4|HPH-4|P4H with transmembrane domain|Prolyl hydroxlase domain-containing 4|hypoxia inducible factor prolyl 4 hydroxylase|hypoxia-inducible factor prolyl 4-hydroxylase|hypoxia-inducible factor prolyl hydroxylase 4|proline 4-hydroxylase|transmembrane prolyl 4-hydroxylase protein-coding 1354307 PA2G4 proliferation-associated 2G4, 38kDa This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq] 1580863 11268000,11325528,15064750,15231747,15583694,16254079,17353931,15073182,7556453,19037095,18852121,18355957,17951246,17768350,17765895,17641068,17316401,17295834,17081983,16964243,16832058,16642037,16631606,16396631,15994225,15635413,15489334,12682367,12477932,12429849,12165860,11790298,11708806,10797306,10682683,9345902,8889548,15896331,10608806,9565586,16236267,19615732,20048076,18029348,20211142,20562859 5036 AC034102,AF104670,CH471054,AK291796,BC001951,BC007561,BC019222,BC032111,BC069786,BC072007,BU683753,CR591089,CR591363,CR594814,CR595504,CR596507,CR599033,CR599146,CR599405,CR600047,CR605768,CR605970,CR607689,CR608383,CR609145,CR613688,CR616985,CR619236,NM_006191,CR622387,CR624134,CR625081,U50137,U59435,U87954,CR619364,CR619712 NP_006182,AAD05561,EAW96884,EAW96885,BAF84485,AAH01951,AAH07561,AAH19222,AAH32111,AAH69786,AAH72007,AAA91484,AAB91536,AAD00646,Q05D08,Q13548,Q6PIN5,Q9UQ80,ABM84372,ABM87750 Hs.524498,Hs.573018 EBP1|HG4-1|p38-2G4 ErbB-3 binding protein 1|ErbB3-binding protein Ebp1|cell cycle protein p38-2G4 homolog|erbB3-binding protein 1|proliferation-associated protein 2G4 protein-coding 1348998 PA2G4P proliferation-associated 2G4 pseudogene 9847074,9345902 389884 NG_005879,AC008162 PA2G4P pseudo 1352283 PA2G4P2 proliferation-associated 2G4 pseudogene 2 9345902 170533 NG_001046,AL136460 PA2G4L5|bA102J14.2 pseudo 1605750 PA2G4P3 proliferation-associated 2G4 pseudogene 3 9345902 619212 NG_005881,AC068408 HsT2542|PA2G4L4 pseudo 1604410 PA2G4P4 proliferation-associated 2G4 pseudogene 4 9345902 647033 NR_003284,AC106708,AK025367 Hs.573018 PA2G4L1 pseudo 1604918 PA2G4P5 proliferation-associated 2G4 pseudogene 5 9345902 389424 NG_005878,AL358942,AL357514 PA2G4L2 pseudo 1603420 PA2G4P6 proliferation-associated 2G4 pseudogene 6 9345902 646083 NG_005882,AL590233 PA2G4L3 pseudo 1602098 PAAF1 proteasomal ATPase-associated factor 1 17207965,17353931,17317272,17289585,15831487,15489334,14702039,12477932,9373149,8125298,19615732 80227 NM_025155,AP002770,CH471076,AF087895,AK021910,AK222501,AK225520,AK298258,AK309133,BC006142,BC021541,BC028628,BC028677,BC045774,CR608221,CR621285,CR623159,AK316394 ADQ32653,NP_079431,EAW74917,EAW74918,EAW74919,AAP97194,BAB13933,BAD96221,BAG60522,AAH06142,AAH21541,AAH28628,Q9BRP4,BAH14765 Hs.525017 FLJ11848|PAAF|Rpn14|WDR71 WD repeat domain 71|WD repeat-containing protein 71|proteasomal ATPase-associated factor 1 protein-coding 1349848 PABPC1 poly(A) binding protein, cytoplasmic 1 The poly(A)-binding protein (PABP), which is found complexed to the 3-prime poly(A) tail of eukaryotic mRNA, is required for poly(A) shortening and translation initiation. In humans, the PABPs comprise a small nuclear isoform and a conserved gene family that displays at least 3 functional proteins: PABP1 (PABPC1), inducible PABP (iPABP, or PABPC4; MIM 603407), and PABP3 (PABPC3; MIM 604680). In addition, there are at least 4 pseudogenes, PABPCP1 to PABPCP4.[supplied by OMIM] 1580863 2885805,15663938,11997512,9582337,12588972,18957126,18799579,18642007,18632855,18467502,18321554,18305028,18230761,17785442,17595167,17212783,17150895,16869712,16782705,16716377,16465428,16356927,16332685,15831480,15782174,15592455,15489334,15314026,14739600,14702039,12565831,12489690,12477932,12388589,11991638,11850402,11704675,11438674,11328870,11274152,11172725,11051545,10543404,10499800,10358005,10205060,9880551,9857202,9548260,8657127,8057425,7908267,16703665,16594896,18056425,12723973,14583602,15082755,17353931,14559993,20980505,20595394,12844354,15630022,20573819,10373504,11591653,12086624,15121898,15324660,16556936,16601676,16804161,17220478,17289661,17643375,19193790,19369421,19934229,19956697,20085707,20096703,20098421,20181956,20544796,16522924,19454010,21063388,20009508,20696395 26986 NM_002568,AP001205,CH471060,U68104,AK095194,AK130523,AK298990,AK303120,AL135187,BC015958,BC023217,BC023520,BC041863,Y00345,Z48501,HI179042,NG_027520 NP_002559,EAW91814,EAW91815,EAW91816,EAW91817,EAW91818,EAW91819,EAW91820,EAW91821,AAD08718,BAG53005,BAG61082,BAG64226,AAH15958,AAH23520,CAA68428,CAA88401,P11940,ABM84434,ABM87499,CBX53830 Hs.387804 PAB1|PABP|PABP1|PABPC2|PABPL1 PABP-1|poly(A) binding protein, cytoplasmic 2|poly(A)-binding protein 1|polyadenylate-binding protein 1 protein-coding 1346773 PABPC1L poly(A) binding protein, cytoplasmic 1-like 18716053,14702039,12477932,11780052,11549316,18483763 80336 NM_001124756,AL008725,AL109839,CH471077,AK021902,AK026760,AK055371,AK124047,BC039151,BC068104,EU190483 NP_001118228,CAI95662,CAI95663,CAI95631,CAI95632,CAI95635,CAI95637,CAI95638,CAI95639,EAW75892,ABY64766,Q4VXT4,Q4VXT5,Q4VXT6,Q4VXT8,Q4VXU2 Hs.641481 C20orf119|FLJ11840|FLJ30809|FLJ42053|PABPC1L1|dJ1069P2.3|ePAB OTTHUMP00000063224|polyadenylate-binding protein 1-like protein-coding 1603498 PABPC1L2A poly(A) binding protein, cytoplasmic 1-like 2A 12477932 340529 NM_001012977,AL662864,AY730282 NP_001012995,CAI40931,Q5JQF8 Hs.450320 MGC168104|PABPC1L2B|RBM32A|RP11-493K23.3 OTTHUMP00000023563|RNA binding motif protein 32A|RNA-binding motif protein 32|RNA-binding protein 32|polyadenylate-binding protein 1-like 2 protein-coding 1642212 PABPC1L2B poly(A) binding protein, cytoplasmic 1-like 2B 12477932 645974 NM_001042506,AL662864,BC041956,BC136492 NP_001035971,CAI40930,AAH41956,AAI36493,Q5JQF8 Hs.567854 MGC168104|PABPC1L2A|RBM32B|RP11-493K23.2 RNA binding motif protein 32B|RNA-binding motif protein 32|RNA-binding protein 32|polyadenylate-binding protein 1-like 2 protein-coding 3003934 PABPC1P11 poly(A) binding protein, cytoplasmic 1 pseudogene 11 20379614 100421058 AL133214,NG_021608 pseudo 3231912 PABPC1P12 poly(A) binding protein, cytoplasmic 1 pseudogene 12 100129604 AL133173,NG_022171 pseudo 3418558 PABPC1P13 poly(A) binding protein, cytoplasmic 1 pseudogene 13 644758 AC138915,NG_006145 pseudo 2816409 PABPC1P5 poly(A) binding protein, cytoplasmic 1 pseudogene 5 100131374 AC134882,NG_022964 pseudo 3436168 PABPC1P6 poly(A) binding protein, cytoplasmic 1 pseudogene 6 100128696 AC127391,NG_023006 pseudo 3539571 PABPC1P7 poly(A) binding protein, cytoplasmic 1 pseudogene 7 9847074 100128183 AC083826,NG_011865 pseudo 3322043 PABPC1P8 poly(A) binding protein, cytoplasmic 1 pseudogene 8 100132766 AL031601,NG_023001 pseudo 3051038 PABPC1P9 poly(A) binding protein, cytoplasmic 1 pseudogene 9 100130338 AP000544,AP000545,NG_011864 pseudo 1343398 PABPC3 poly(A) binding protein, cytoplasmic 3 Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM] 1580863 11328870,16201836,15489334,12477932,11230166,10543404,10358005,8432538 5042 NM_030979,AL359757,CH471075,DQ120640,AA954581,AF132026,AK313336,AL136900,BC027617,BC045608,BG718483 NP_112241,CAH70805,EAX08360,ABB92425,AAG38953,BAG36140,CAB66834,AAH27617,AAH45608,Q2VIP3,Q3ZCS4,Q5VX58,Q9H361,ABM83029,ABM86223 Hs.458280 PABP3|PABPL3|tPABP PABP-3|poly(A)-binding protein 3|poly(A)-binding protein-like 3|polyadenylate-binding protein 3|testis PABP|testis-specific poly(A)-binding protein (PABP)|testis-specific poly(A)-binding protein 3 protein-coding 1312792 PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8524242,11369516,15231747,17353931,9030741,15782174,15592455,15489334,15383276,15231748,14702039,14559993,12477932,10543404,10358005,9373149,8125298,17289661,17643375 8761 NM_003819,NM_001135653,NM_001135654,AL365277,AL845289,CH471059,AB208962,AK091110,AK125926,AK222917,BC029969,BC065540,BC071591,BC094755,BC106908,BC118568,D12799,DB455681,U33818,U75686 NP_003810,NP_001129125,NP_001129126,CAI16412,CAI16413,CAI16414,CAI16415,CAI16423,CAI16425,CAI12298,CAI12299,CAI12300,CAI12301,EAX07261,EAX07262,EAX07263,EAX07264,EAX07265,EAX07266,EAX07267,EAX07268,BAD92199,BAD96637,AAH65540,AAH71591,AAH94755,AAI06909,AAI18569,BAA02244,AAC50350,AAB97309,Q13310,Q147Y3,Q15164,Q3B867,Q53GL4,Q59GZ7,Q6IQ30 Hs.169900 APP-1|APP1|FLJ43938|PABP4|iPABP OTTHUMP00000010671|PABP-4|activated-platelet protein 1|inducible poly(A)-binding protein|poly(A)-binding protein 4|polyadenylate-binding protein 4 protein-coding 2290032 PABPC4L poly(A) binding protein, cytoplasmic 4-like 11181995 132430 NM_001114734,AC015631,CH471056,AY672099,BX648831,DR005318 NP_001108206,EAX05149,P0CB38 Hs.49889 DKFZp686J06116 PABP-4-like|polyadenylate-binding protein 4-like protein-coding 1348533 PABPC5 poly(A) binding protein, cytoplasmic 5 1580863 17207965,15772651,15489334,12477932,11374897 140886 NM_080832,AJ278963,AL662874,CH471115,AK290105,AL122118,BC063113,AK297327,CR602574,NG_021346 ADQ32067,NP_543022,CAC42826,CAI41475,CAI41476,EAX02776,BAF82794,CAB59276,AAH63113,Q5JQF3,Q96DU9,BAG59787 Hs.246590 FLJ51677|PABP5 OTTHUMP00000023638|polyadenylate-binding protein 5 protein-coding 1350393 PABPCP1 poly(A) binding protein, cytoplasmic, pseudogene 1 10543404,9880551 26980 NG_001268,AC098591,U64662 PABP1|PABPCP1 pseudo 1344918 PABPCP2 poly(A) binding protein, cytoplasmic, pseudogene 2 15489334,14702039,12477932,11890856,11328870,11003790,10543404,9880551 728773 NR_026904,AC093113,U60801,AF132027,AK292357,BC033032,BC068242 BAF85046 Hs.334462 MGC51329|PABP2|PABP4|PABPCP2|PABPCP4 pseudo 1347145 PABPCP3 poly(A) binding protein, cytoplasmic, pseudogene 3 10543404,9880551 26978 NG_001266,AL513007,U64661 PABP3|PABPCP3 pseudo 1346024 PABPCP4 poly(A) binding protein, cytoplasmic, pseudogene 4 10543404 26977 1349754 PABPCP5 poly(A) binding protein, cytoplasmic pseudogene 5 8432538 341315 NG_008823,AC084357 PABPCP5|PABPL2 pseudo 1346023 PABPL1 poly(A) binding protein-like 1 285314 Q9NTZ0 1345820 PABPN1 poly(A) binding protein, nuclear 1 This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the trinucleotide (GCG) repeat from normal 6 to 8-13 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed. [provided by RefSeq] 9462747,15169763,12226669,18029348,10205180,19101703,18577936,18577654,18495660,18397876,18343218,18274805,18178579,18175083,17418585,17229142,17005403,16860991,16378590,16239242,10224081,20226184,21089130,21089175,8889548,16101680,15755680,15725589,15694141,15489334,15121898,14663186,12945950,12673802,12477932,11689481,11371506,11222452,11001936,10688363,10543404,10358005,7795598,11850402,17289661,19364924,19641605,19773279 8106 NM_004643,NG_008239,AF026029,AL049829,CH471078,AK293633,BC010939,BX247976,CR591896,CR592559,CR613466,CR613703,CR615102,CR618592,BI830835,BM979311 NP_004634,AAC39596,EAW66167,EAW66168,BAG57089,AAH10939,CAD62310,Q12925,Q86U42 Hs.707712 OPMD|PAB2|PABII|PABP-2|PABP2 OTTHUMP00000164595|PABII|PABP-2|nuclear poly(A)-binding protein 1|poly(A) binding protein 2|poly(A) binding protein II|poly(A)-binding protein 2|poly(A)-binding protein II|polyadenylate-binding nuclear protein 1|polyadenylate-binding protein 2 protein-coding 3078328 PABPN1L poly(A) binding protein, nuclear 1-like (cytoplasmic) 12477932,15083517,15380618,18483763 390748 AC092384,BC130001,BC130002,EU190484,NM_001080487 A6NDY0,AAI30002,AAI48674,AAI56596,ABY64767,NP_001073956,AAI30003 Hs.690706 PABPNL1|ePABP2 ePABP-2|embryonic poly(A) binding protein 2|embryonic poly(A)-binding protein 2|embryonic poly(A)-binding protein type II|embryonic polyadenylate-binding protein 2|poly(A)-binding protein nuclear-like 1 protein-coding 1344422 PABX pseudoautosomal boundary region, X-linked 5043 1346911 PABY pseudoautosomal boundary region, Y-linked 5044 1352616 PACRG PARK2 co-regulated This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17722288,17590346,17068781,16973374,16391553,16287063,15925106,15489334,15301585,14743368,14737177,14702039,14574404,14532270,12577057,12547187,12477932,11181995,17207965,20877624,19196541,19268936,19723394,20012177,20379614 135138 NM_152410,NM_001080378,NM_001080379,NG_011525,AL031121,AL078585,AL137182,AL354942,AL590286,AL603788,AP001576,CH471051,AF546872,AK057286,BC030642,BC044227,BK001670 NP_689623,NP_001073847,NP_001073848,CAI21557,CAI19951,CAI16054,EAW47563,EAW47564,EAW47565,EAW47566,AAN37911,BAB71410,AAH30642,AAH44227,DAA02134,Q96M98,ADQ33104 Hs.25791 FLJ32724|GLUP|HAK005771|PARK2CRG|RP3-495O10.2 OTTHUMP00000017729|PARK2 coregulated gene protein|molecular chaperone/chaperonin-binding protein|parkin co-regulated gene protein|parkin coregulated gene protein protein-coding 1605875 PACRGL PARK2 co-regulated-like 15815621,15489334,14702039,12477932,8889548 133015 NM_001130727,AC104065,CH471069,AK098692,AK291544,AK294077,AK297556,AK307092,AK307355,AK307786,AK315482,BC023002,NM_145048,BU674750,CF121351,CR593547,CR596178,CR610222,CR621781,CR624924,CR625835,DC339941 NP_659485,NP_001124199,AAY40910,EAW92795,EAW92796,BAC05381,BAF84233,BAG57419,BAG59949,BAG37866,AAH23002,Q8N7B6 Hs.479298 C4orf28|MGC29898 OTTHUMP00000217910|OTTHUMP00000217911|OTTHUMP00000218077|OTTHUMP00000218082|OTTHUMP00000218083|OTTHUMP00000218088|OTTHUMP00000218902|OTTHUMP00000218903|OTTHUMP00000218909|OTTHUMP00000218910|OTTHUMP00000218913|OTTHUMP00000218915|OTTHUMP00000218979|PACRG-like protein protein-coding 735286 PACS1 phosphofurin acidic cluster sorting protein 1 This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. 1580863 14702039,14633983,14608369,12855553,12526811,12477932,11331585,10574461,9695949,15638726,14965316,11463741,12414957,10707087,15569716,16977309,16308564,15692563,15489334,15302935,19710307,20379614 55690 NM_018026,AP000759,AP000822,AP006287,CH471076,AB033001,AK001071,AK056361,AK096644,AK098336,AL137271,AY320283,BC003173,BC009936,BC010096,BC042909,BC052577,BC055288,CR608717,CR617326,AK293966 NP_060496,EAW74502,EAW74503,EAW74504,EAW74505,EAW74506,BAA86489,BAA91491,BAB71164,BAC04831,CAB70669,AAQ67682,AAH03173,AAH09936,AAH10096,AAH52577,AAH55288,Q6VY07,Q9NTH2,BAG57338 Hs.644326 FLJ10209|KIAA1175 PACS-1|cytosolic sorting protein PACS-1|phosphofurin acidic cluster sorting protein 1 protein-coding 1604046 PACS2 phosphofurin acidic cluster sorting protein 2 19481529,18417615,18296443,16344560,15692567,19851296,20198315,15692563,15489334,15302935,12477932,9628581 23241 BC028418,BC050351,BC065220,BC131591,BU944012,CR609884,CR619350,DA275449,DA408379,DA491365,NM_015197,AL512355,AL928654,CH471061,AB011174,AB029326,AB072449,AK098354,AL539052,AY320284,BC010663,NM_001100913 AAH50351,AAH65220,AAI31592,Q86VP3,Q8N7J0,Q8TDX4,Q8TDZ8,AAH10663,NP_001094383,NP_056012,EAW81915,EAW81917,BAA25528,BAB87116,BAB88325,BAC05290,AAQ83882 Hs.525626 FLJ25488|KIAA0602|PACS1L PACS-2|PACS1-like protein|phosphofurin acidic cluster sorting protein 1-like|phosphofurin acidic cluster sorting protein 2 protein-coding 736787 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 1580863 19549836,18649358,16627472,16381901,16189514,15489336,15489334,12477932,12354780,12168954,11352907,11292345,11230166,11179684,11082044,11076863,10718198,9950691,11431473,15252009,16169070,11256614,19041431,20057076,20936779 29993 NM_020804,BX255972,CH471081,AB037800,AF242529,AK289956,AK294132,AL834211,BC040228,BC128219,CR612772,DC312410,NM_001199583 NP_065855,CAH73102,CAH73103,EAX03785,EAX03786,EAX03787,BAA92617,AAK29206,BAF82645,BAG57460,CAD38895,AAH40228,AAI28220,Q5TZC2,Q5TZC3,Q9BY11,CAL38387,ABM83404,ABM86615,NP_001186512 Hs.520087 KIAA1379|SDPI OTTHUMP00000016232|protein kinase C and casein kinase substrate in neurons protein 1|syndapin I protein-coding 69456 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 1580863 10431838,19549836,18456257,17081983,16627472,16551695,16189514,15489334,15461802,12477932,12023017,11230166,11179684,11082044,10591208,9110174,8619474,20936779,15226389,19041431,19767753,20188097,20379614,20564319 11252 AL022476,AL049758,CH471138,AF128536,AL136845,AL389984,AY007086,BC008037,CR456536,CR533523,CR600313,CR621878,NM_007229,BI964045,NM_001184970,NM_001184971 ABM83837,ABM87160,NP_009160,CAI20163,CAI20948,EAW73277,EAW73278,AAD41781,CAB66779,CAB97538,AAH08037,CAG30422,CAG38554,Q6FIA3,Q9UNF0,CAK54567,CAK54866,CAQ08843,NP_001171899,NP_001171900 Hs.162877 SDPII OTTHUMP00000198282|cytoplasmic phosphoprotein PACSIN2|protein kinase C and casein kinase substrate in neurons protein 2|syndapin II protein-coding 1316456 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 1580863 10531379,18174177,17081983,16627472,15719014,15489334,14702039,14679214,12952982,12477932,11179684,11082044,17353931,15226389,15280379,16374509,18316326,19041431 29763 BC011889,NM_016223,AC090589,CH471064,AF130979,AF149825,AF242530,AK000577,AK300658,AK300968,BC007914,CR613894,CR624285,CR595171,CR600161,CR601247,CR606050,AK310819,BI601317,NM_001184974,NM_001184975 NP_057307,EAW67960,EAW67961,EAW67962,AAF04472,AAG31023,AAK29207,BAA91267,BAG62344,BAG62592,AAH07914,Q9UKS6,ABM84082,ABM87449,AAH11889,BAI46684,NP_001171903,NP_001171904 Hs.334639 FLJ17861|SDPIII SH3 domain-containing protein 6511|protein kinase C and casein kinase substrate in neurons protein 3|syndapin III protein-coding 1344006 PADI1 peptidyl arginine deiminase, type I This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq] 1580863 18710930,18669583,17851584,16973334,16710414,16091842,15675958,15150696,15087120,14579251,12477932,12416996,9373149,8125298,14702039,20596086 29943 NM_013358,AJ549502,AL590644,CH471134,AB033768,AK026652,AK127515,AK225541,AK293275,AK298538,AK298892,AK309106,AK314644,BC130574,BC136402 NP_037490,CAE47741,CAH73165,EAW94833,BAA85771,BAG56804,BAG60738,BAG61004,BAG37206,AAI30575,AAI36403,Q9ULC6,ADR83241 Hs.412941 HPAD10|PAD1|PDI|PDI1 hPAD-colony 10|peptidylarginine deiminase I|protein-arginine deiminase type I|protein-arginine deiminase type-1 protein-coding 1348232 PADI2 peptidyl arginine deiminase, type II This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq] 69925,1580863 20806090,11181995,19478818,18923545,18668562,18645041,17968929,17469138,17031564,16973334,16723463,16710414,15704193,15629448,15555572,15087120,14579251,12477932,12392711,10231032,2768262,19564157,20013286,20379614 69925 11240 NM_007365,AJ549502,AL049569,CH471134,AB023211,AB030176,AK123164,AK127006,AK295783,BC009701 NP_031391,CAE47740,CAB96821,CAI20362,EAW94830,EAW94831,BAA76838,BAA82557,BAC85545,BAG58605,AAH09701,Q6ZWF8,Q96DA7,Q9Y2J8 Hs.33455 KIAA0994|PAD-H19|PAD2|PDI2 OTTHUMP00000002404|peptidlyarginine deiminase type II|peptidylarginine deiminase II|protein arginine deiminase|protein-arginine deiminase type II|protein-arginine deiminase type-2 protein-coding 732756 PADI3 peptidyl arginine deiminase, type III This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq] 1580863 10092850,18952102,18923650,18083705,16973334,16710414,16671893,16091842,15675958,15489334,15150696,15087120,14579251,12477932,11181995,11069618 51702 NM_016233,AJ549502,AL590644,CH471134,AB026831,BC041592,BC109091,BC109092 NP_057317,CAE47742,CAH73166,EAW94834,BAA85974,AAH41592,AAI09092,AAI09093,Q9ULW8 Hs.149195 MGC126307|MGC126308|PAD3|PDI3 peptidyl arginine deiminase, type 3|peptidylarginine deiminase III|protein-arginine deiminase type III|protein-arginine deiminase type-3 protein-coding 1348860 PADI4 peptidyl arginine deiminase, type IV This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq] 1580863 18029348,19199100,19581286,19843866,20039406,20190809,20233754,20476860,20537173,17911417,16828881,16710414,16567635,16519819,16502257,16469113,16449362,16385500,16380915,16355400,16200584,16060666,15998632,15883854,15814578,15731352,15731287,15629448,15489334,15345777,15339660,15338034,15247907,15087120,15077293,12833157,12477932,12393868,11435484,11042152,10488123,19470526,19332633,19199253,19158815,19004619,18849993,18764812,18668562,18633125,18576335,18505818,18466513,18466472,18462498,18398945,18292109,18087673,17980669,17968929,17888206,17868046,17469103,17265154,17216583,20563870,20630876,20827398,21039740,21062850,20496417 23569 AC004824,AJ549502,AJ715932,AJ715933,AJ715934,AJ715935,AJ715936,AJ715937,AJ715938,AJ966355,AL138798,AL590644,CH471134,AB017919,AF229067,NM_012387,AK290507,AK309637,AK314839,BC025718,NG_023261 NP_036519,CAE47743,CAG30581,CAG30582,CAG30583,CAG30584,CAG30585,CAG30586,CAG30587,CAI84651,CAH73167,CAH73168,EAW94835,EAW94836,BAA84542,AAF82265,BAF83196,BAG37357,AAH25718,Q53HY9,Q6EVJ1,Q6EVJ2,Q6EVJ4,Q6EVJ5,Q6EVJ6,Q6EVJ7,Q9NRE8,Q9UM07 Hs.522969 PAD|PAD4|PADI5|PDI4|PDI5 HL-60 PAD|PADI-H protein|peptidyl arginine deiminase, type V|peptidylarginine deiminase IV|protein-arginine deiminase type IV|protein-arginine deiminase type-4 protein-coding 1354366 PADI6 peptidyl arginine deiminase, type VI Peptidylarginine deiminases (PADs, EC 3.5.3.15), including PADI6, make up a family of posttranslational protein modification enzymes that convert arginine residues to citrulline residues in the presence of calcium ions.[supplied by OMIM] 18849993,15625577,15087120,14579251 353238 NM_207421,AC004824,AJ549502,CH471134,AY422079,AY443100 NP_997304,CAD70706,EAW94837,AAR38850,AAS07634,Q330K5,Q6TGC4,AAI48642,AAI53198 Hs.531598 peptidylarginine deiminase VI|peptidylarginine deiminase type 6|protein-arginine deiminase type VI|protein-arginine deiminase type-6 protein-coding 1347038 PAEP progestagen-associated endometrial protein This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. A number of alternatively spliced transcript variants have been observed at this locus, but the full-length nature of only two, each encoding the same protein, has been determined. [provided by RefSeq] 1580863 17068141,3135704,3194393,19224449,19195690,18720404,18402941,18256018,18203874,18155767,17720699,17716661,17649816,17570010,17482165,17329396,17156191,17148576,17132480,17070198,2975952,2380618,2206398,2113930,2016092,2006183,9274854,19945098,20592348,20592354,17049713,16759928,16647384,16325596,16269626,16169070,16123169,15883155,15527767,15494501,15489334,15164053,15016783,14973265,14764802,14702039,14679205,12826085,12672671,12654469,12556471,12477932,12351556,12202458,11884441,11818517,11278680,11058757,11058744,11023837,9591048,9239694,9166287,8943270,8452641,8025274,7829063,7592613,7047733,6776278,3768286,3667877,3569148,3320533,19032611,19520712,19609241,19683346,19857900,19903048,20040080,17207965,19759913,19799645,20638131 5047 NM_002571,AL354761,CH471090,M34046,AK304657,AK309983,AK311007,AK311730,AK311813,BC069451,BC069562,BC112304,BC113728,CR598196,CR606504,DQ884407,J04129,M61886,NM_001018049 NP_001018059,NP_002562,CAI17197,CAI17198,CAI17199,CAI17200,CAI17201,EAW88163,EAW88164,EAW88165,EAW88166,EAW88167,EAW88168,AAA60148,BAG65432,BAG34756,AAH69451,AAH69562,AAI12305,AAI13729,ABI63374,AAA60147,AAA35801,AAA35802,P09466,Q5T6T4,Q5T6T5,Q5T6T6,ADQ32949,ADR82852 Hs.532325 GD|GdA|GdF|GdS|MGC138509|MGC142288|PAEG|PEP|PP14 OTTHUMP00000022552|OTTHUMP00000022554|OTTHUMP00000022555|PEG|PP14 protein (placental protein 14)|alpha uterine protein|glycodelin|glycodelin-A|glycodelin-F|glycodelin-S|placental protein 14|pregnancy-associated endometrial alpha-2 globulin|pregnancy-associated endometrial alpha-2-globulin|progestagen-associated endometrial protein (placental protein 14, pregnancy-associated endometrial a|progesterone-associated endometrial protein protein-coding 1607027 PAF1 Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) PAF1, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and CTR9 (MIM 609366) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]). The PAF complex also has a role in histone monoubiquitination (Zhu et al., 2005 [PubMed 16307923]).[supplied by OMIM] 15632063,16491129,16307923,18469135,19771162,20178742,14702039,12477932,20541477 54623 NM_019088,AC005239,CH471126,AF086555,AJ401156,AK001985,AK098423,AK294625,BC000017,BC013402,CR599585,CR604612,CR604698,CR616137 NP_061961,AAC25503,EAW56880,EAW56881,EAW56882,EAW56883,CAC20564,BAA92020,BAC05305,BAG57806,AAH00017,AAH13402,Q8N7H5,ABM82765,ABM85952 Hs.466714 F23149_1|FLJ11123|PD2 RNA polymerase II-associated factor 1 homolog|hPAF1|pancreatic differentiation protein 2 protein-coding 1349260 PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq] 1601499,1580863,4107040 20168084,11056532,11889140,8028668,9063735,11163258,11940666,19667223,19632097,19527514,19251251,19136950,19020519,19019335,18818748,18784752,18524253,18431085,18421979,18285425,17850624,17664403,17018134,16806233,16766276,16761416,16689754,16642511,16549273,16411107,16258276,16144905,16138011,16086290,16027700,15762842,15698475,15489334,15173193,15081260,15057976,15007136,14970193,14962739,14733918,14584027,14581661,14578885,12885786,12556484,12496397,12477932,12185771,12110797,11916011,11803439,11734602,11502906,11294621,11163260,11001923,10729324,10727864,10491172,10441340,9626899,9601647,9384577,9218411,9131135,9044400,8586424,8355785,7573359,12796778,16169070,20675372,11076968,12221128,12852856,16462731,19050731,19622634,20048338,20084519,20133715,20452482,20464283,7790358,17041588,18029348,20140262,19913121,20628086,20634891,20673868 1601499,4107040 5048 NG_009799,AC005696,AC015799,CH471108,U72342,AF208835,AF208836,AF208837,AF208838,AF400434,AK293918,AK303015,AK313078,BC064638,BX538346,CR594061,CR599910,CR608859,CR622803,CR624292,L13385,L13386,L13387,NM_000430,L13388,L25107,S81396 NP_000421,EAW90536,AAC51111,AAL34972,AAL34973,AAK92483,BAG57299,BAG64145,BAG35904,AAH64638,CAD98141,AAA02880,AAA02881,AAA02882,P43034 Hs.77318 LIS1|LIS2|MDCR|MDS|PAFAH LIS-1|PAF acetylhydrolase 45 kDa subunit|PAF-AH 45 kDa subunit|PAF-AH alpha|PAFAH alpha|lissencephaly 1 protein|lissencephaly-1 protein|platelet-activating factor acetylhydrolase IB subunit alpha|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) protein-coding 733676 PAFAH1B2 platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) Platelet-activating factor (PAF) is a biologically active phospholipid with diverse biologic effects. PAF is degraded to inactive products by hydrolysis of the acetyl group at the sn-2 position to produce the biologically inactive products LYSO-PAF and acetate. This reaction is catalyzed by PAF acetylhydrolase (PAFAH). The various monomeric and multimeric forms of the enzyme are composed of alpha (MIM 601545), beta, and gamma (MIM 603074) PAFAH subunits.[supplied by OMIM] 4107040,4107059 19622634,16130169,19019335,18464913,18155631,17849047,16169070,15489334,14718574,12477932,11522926,10727864,9693049,9144386,8954729,16189514 4107040,4107059 5049 AW080651,NM_001184746,NM_001184747,NM_001184748,NM_002572,AP005018,CH471065,EF445007,AK292973,AK307366,BC000398,BC001774,BC019301,BC039721,CR456736,CR603284,D63390,DQ836738,DQ836739,DQ836740,DQ836741,DQ836742,DQ836743,BC010009,BC021287 NP_001171675,NP_001171676,NP_001171677,NP_002563,EAW67281,EAW67282,ACA06040,BAF85662,AAH00398,AAH01774,AAH19301,CAG33017,BAA19917,ABI58225,ABI58226,ABI58227,ABI58228,ABI58229,ABI58230,P68402,Q6IBR6,Q9BUZ1 Hs.597488 PAF acetylhydrolase 30 kDa subunit|PAF-AH 30 kDa subunit|PAF-AH subunit beta|PAF-AH1b alpha 2 subunit|PAFAH subunit beta|intracellular platelet-activating factor acetylhydrolase alpha 2 subunit|platelet-activating factor acetylhydrolase IB subunit beta|platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) protein-coding 732942 PAFAH1B3 platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863,4107040 16189514,7669037,16236267,16169070,15489334,15057824,12477932,11285245,10727864,9693049,9144386,14733918,11522926,19622634 4107040 5050 NM_002573,NM_001145939,NM_001145940,AC006486,CH471126,AA432316,BC003016,BC007863,BE048307,CB216829,CR407626,CR615853,D63391 NP_002564,NP_001139411,NP_001139412,AAD11989,EAW57122,EAW57123,EAW57124,EAW57125,EAW57126,AAH03016,AAH07863,CAG28554,BAA09706,Q15102 Hs.466831 FLJ44990|PAFAHG PAF acetylhydrolase 29 kDa subunit|PAF-AH 29 kDa subunit|PAF-AH subunit gamma|PAF-AH1b alpha 1 subunit|PAFAH subunit gamma|platelet-activating factor acetylhydrolase IB subunit gamma|platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) protein-coding 1347844 PAFAH1P1 platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 1 10575211 7845 NG_003165,AC133644,AF092544 LIS2|PAFAH1P1 pseudo 1350191 PAFAH1P2 platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 2 10575211 27002 NG_003167,AC068491,AF092545 LIS2P|PAFAH1P2 pseudo 1349698 PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq] 1302298,1580863 8955149,17272759,17157859,16650870,15489334,12477932,12406338,11294621,9494101,9218411 1302298 5051 NM_000437,AL592064,CH471059,AK313815,BC001158,BU630496,CR597579,D87845,U89386 NP_000428,CAI10970,CAI10971,CAI10972,EAX07852,EAX07853,BAG36551,AAH01158,BAA13468,AAC39707,Q5SY00,Q5SY01,Q99487,ABM83722,ABM87042 Hs.477083 FLJ26025|HSD-PLA2 SD-PLA2|platelet-activating factor acetylhydrolase 2, cytoplasmic|serine-dependent phospholipase A2 protein-coding 1603638 PAG1 phosphoprotein associated with glycosphingolipid microdomains 1 The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. 19913121,20628086,10790433,14665621,18070987,18056706,11684085,9334312,17389760,17143285,16947079,16636672,16160011,15489334,14702039,12477932,20561033,11163757,16413409,19581936,20379614 55824 NM_018440,AC012533,AC022778,AC079209,CH471068,AA766638,AF240634,AK000680,AK095177,AK289818,BC090931,BC112159,BX426120,CB960651 NP_060910,EAW87085,EAW87086,AAF67343,BAA91321,BAF82507,AAH90931,AAI12160,Q9NWQ8,ACE87510,ACE86824 Hs.266175 CBP|FLJ37858|MGC138364|PAG Csk-binding protein|phosphoprotein associated with glycosphingolipid-enriched microdomains 1|transmembrane adapter protein PAG|transmembrane phosphoprotein Cbp protein-coding 1344360 PAGE1 P antigen family, member 1 (prostate associated) This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. [provided by RefSeq] 9651357,18029348,15489334,12477932,10397259,9724777,7544395,20237496 8712 NM_003785,NG_012550,AC142496,AC231643,CH471180,AF058989,BC004861,BU941413,CR542084 NP_003776,EAW89934,EAW89935,AAC25990,AAH04861,CAG46881,O75459,ABM84308,ABM87701 Hs.128231 AL5|CT16.3|GAGE-9|GAGEB1|PAGE-1 G antigen 9|G antigen family B member 1|G antigen, family B, 1 (prostate associated)|prostate associated gene 1|prostate-associated gene 1 protein protein-coding 1604971 PAGE2 P antigen family, member 2 (prostate associated) 15489334,15164054,12477932,9724777 203569 NM_207339,AL590240,BC054022 ADR82681,NP_997222,CAI39878,CAI39879,CAI39880,AAH54022,Q7Z2X7 Hs.662489 CT16.4|GAGEC2|GAGEE2|MGC62094|PAGE-2 G antigen family E member 2|G antigen, family C, 2|G antigen, family E, 2|OTTHUMP00000023396|prostate-associated gene 2 protein protein-coding 1603822 PAGE2B P antigen family, member 2B 15772651,12477932 389860 NM_001015038,AL590240,AX972928,BC130359 NP_001015038,CAI39876,CAI39877,CAF18036,AAI30360,Q5JRK9,Q5JRL0,ADR83349 Hs.293317 CT16.5|GAGEE3|PAGE-2B G antigen, family E, 3|prostate-associated gene 2B protein|putative G antigen family E member 3 protein-coding 1343229 PAGE3 P antigen family, member 3 (prostate associated) 15772651,9724777,12477932 139793 AL158819,CH471154,BC140001,BC140741,BC144449,NG_017195,NR_033460 CAI40488,EAW93220,AAI40002,AAI40742,AAI44450,Q5JUK9,AAI40053 Hs.163473 CT16.6|GAGEC1|GAGED1|PAGE-3 pseudo 1346380 PAGE4 P antigen family, member 4 (prostate associated) This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer, but is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq] 15772651,15489334,15362791,14702039,12489849,12477932,9724777 9506 NM_007003,AC231644,AF238380,CH471180,AF275258,AJ005894,AK092503,AK312039,BC010897,BG622311,CR456823,CR542183,CR601744,CR624477 NP_008934,EAW89932,EAW89933,AAF88037,CAA06751,BAG34976,AAH10897,CAG33104,CAG46980,O60829,ABM83634,ABM86886 Hs.441038 CT16.7|FLJ35184|GAGE-9|GAGEC1|JM-27|JM27|PAGE-1|PAGE-4 G antigen family C member 1|G antigen, family C, 1|prostate-associated gene 4 protein|prostate-associated gene protein 4 protein-coding 1604258 PAGE5 P antigen family, member 5 (prostate associated) This gene is a member of the GAGE family, which is expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. It may also belong to a family of CT (cancer-testis) antigens. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants have not been determined. [provided by RefSeq] 15772651,15489334,12477932,11992404,11920606 90737 NM_130467,NM_001013435,AL158819,CH471154,AJ344352,BC009230,BC110803,BQ437151 NP_569734,NP_001013453,CAI40485,CAI40486,CAI40487,EAW93219,CAC87642,AAH09230,AAI10804,Q2NL97,Q5JUL0,Q5JUL1,Q96GU1 Hs.668491 CT16|CT16.1|CT16.2|GAGEE1|PAGE-5 G antigen family E member 1|G antigen, family E, 1|OTTHUMP00000023400|cancer/testis antigen 16.1|cancer/testis antigen family 16, member 1|cancer/testis antigen family 16, member 2|prostate-associated gene 5 protein protein-coding 735410 PAH phenylalanine hydroxylase PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq] 1358249,1580863,1300048,1601521,1601523,1601526 12185072,7581408,12173030,12126628,12096915,12056888,11935335,11855940,11718561,11708866,11678552,11524738,11461196,11385716,11326337,11214902,11180595,11172645,10784452,10694386,10679941,10472529,10200057,9950317,9852673,9843368,9792411,9792407,9642259,9600453,9521426,9450897,9450182,9406548,9169088,9101291,9048935,9016524,8990013,8889590,8889583,8829656,8825461,8696344,8594560,8487271,8406445,8401510,8370573,8364546,8116675,8098245,8097261,8095248,8088845,8068076,7981714,7860062,7833954,7807961,7668259,3615198,3008810,2986678,2884570,2840952,2816939,2615649,2606484,2574002,2564729,2461704,2309142,2246858,2063869,2044609,2035532,2014802,2006152,1978553,1975559,1975096,1971147,1971144,1968617,1915502,1769645,1709636,1682495,1682235,1679030,1679029,1672294,1672290,1671881,1671810,1671770,1671768,1609797,1601425,1363838,1363837,1360590,1358789,1355066,1349576,1326329,1312992,1301947,1301202,1301201,1301200,1301193,1301187,11461190,20667834,3856322,2872999,19394257,19360691,19292873,19268543,19199246,19161120,19147918,19099685,19086053,19062542,19062537,19036622,18985011,18956252,18937293,18937047,18798839,18769885,18538294,18447256,18387838,18374504,18346471,18299955,18294361,18247293,18184144,17924342,17633563,17630668,17627389,17557229,17502162,17096675,16935936,16917891,16765994,16755493,16545551,16402341,16256386,16086286,15917086,15793771,15730960,15556637,15489334,15464430,15459954,15313177,15300621,15192831,15135070,15060071,14654659,14568534,12833401,12782966,12777691,12765842,12655552,12655548,12655546,12655545,12653545,12649065,12640344,12603331,12603326,12477932,12379147,12210276,12200907,20188615,19444284,19485247,19629656,19674121,19786003,19915519,19938643,20017307,20082265,20140859,20187763,20468064,20457534,17207965 1358249,1601521,1601523,1601526 5053 NM_000277,NG_008690,AC069227,AF404777,AY722625,CH471054,S83538,AK298419,AK313383,BC026251,CR599463,K03020,L47726,S61296,S61396,U49897 NP_000268,AAL78816,AAU11304,EAW97700,EAW97701,EAW97702,AAB50813,BAG60644,BAG36181,AAH26251,AAA60082,AAA80910,AAD13926,AAD13928,AAC51772,P00439,Q16021,Q66RJ9,Q8TEY0,ADQ32100 PH|PKU|PKU1 phe-4-monooxygenase|phenylalanine 4-monooxygenase|phenylalanine-4-hydroxylase protein-coding 1346725 PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16169070,2253271,16964243,16501559,16189514,15489334,15146197,14702039,12477932,9108165,8106516,2183217,2075724,2004782,17353931,15680326,1574589,19060904,19850283,20201926 10606 NM_001079525,NM_001079524,AC068620,AC114766,BX538303,CH471057,U00239,AA669362,AK001163,AK054760,AK294821,AK308527,BC010273,NM_006452,BC019255,BM807012,BT006988,CF994644,CN337183,CR593248,CR596825,CR600656,CR612955,CR620081,CR626713,CR749824,DB503040,X53793 NP_006443,NP_001072993,NP_001072992,EAX05489,EAX05490,EAX05491,EAX05492,EAX05493,EAX05494,BAG57934,AAH10273,AAH19255,AAP35634,CAH18683,CAA37801,P22234,Q68CQ5,ABM92222,ABM83982,ABM84702,ABM87304 Hs.518774,Hs.709570 ADE2|ADE2H1|AIRC|DKFZp781N1372|MGC1343|MGC5024|PAIS AIR carboxylase|OTTHUMP00000219411|OTTHUMP00000219412|OTTHUMP00000219414|SAICAR synthetase|multifunctional protein ADE2 protein-coding 1351759 PAICSP1 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1 8106516,8106516 5060,780814 AL138752,NG_005828 pseudo 1343084 PAICSP2 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 8106516,8106516 5061,780815 AL159999,NG_005829 pseudo 3497486 PAICSP3 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3 9847074 780810 AC019205,NG_005824 pseudo 3497484 PAICSP4 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 780813 AC012543,NG_005827 pseudo 3497485 PAICSP5 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5 9847074 780811 AC073264,CH236959,NG_005825 pseudo 4109153 PAICSP6 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6 9847074 780812 AC099548,CH236959,NG_005826 pseudo 3497483 PAICSP7 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7 780816 AL357354,NG_005830 pseudo 1313834 PAIP1 poly(A) binding protein interacting protein 1 The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq] 9548260,10970864,11997512,16344560,15489334,15252450,12477932,11287654,11230166,11172725,11051545,18725400,19615732,19851022 10605 NM_006451,NM_182789,AC114956,CH471119,AF013758,AK308270,AL136920,BC005295,BC015937,BG430290,BG719757,CR594937,CR599012,CR600281,CR601652,CR607203,CR609051,CR609577,CR611090,CR614417,NM_183323,CR617943,CR623640,CR624807,CR625180,CR626272,DB089732,DQ786248 NP_899152,NP_006442,NP_877590,EAW56067,EAW56068,EAW56069,EAW56070,AAC39697,CAB66854,AAH05295,AAH15937,Q9H074,ABM82036,ABW03359 Hs.482038 MGC12360 OTTHUMP00000221601|PABC1-interacting protein 1|PABP-interacting protein 1|PAIP-1|poly(A)-binding protein-interacting protein 1|polyadenylate binding protein-interacting protein 1|polyadenylate-binding protein-interacting protein 1 protein-coding 1354158 PAIP1P1 poly(A) binding protein interacting protein 1 pseudogene 1 387485 1312240 PAIP2 poly(A) binding protein interacting protein 2 1580863 11042152,11172725,16804161,16601676,16381901,15489336,15489334,15175342,12820898,12477932,11438674,11287632,11230166,11076863,8889548,11256614,19240791 51247 AC011404,AC135457,CH471062,AF151052,AF317675,AK024552,AK314672,AL136640,BC001716,BC039337,BC048106,BC062718,BI560379,BU732743,NM_016480,NM_001033112,CR533489,CR592408,CR593605,CR600873,CR611769,CR626771 EAW62107,EAW62108,EAW62109,EAW62110,EAW62111,EAW62112,AAF36138,AAK11562,BAG37228,CAB66575,AAH01716,AAH39337,AAH48106,AAH62718,NP_057564,NP_001028284,CAG38520,Q49AE6,Q6FID7,Q9BPZ3,CAL38574,ACE87539,ACE86852 Hs.396644 MGC72018|PAIP2A OTTHUMP00000223733|PABC1-interacting protein 2|PABP-interacting protein 2|PAIP-2|poly(A)-binding protein-interacting protein 2|polyA-binding protein-interacting protein 2|polyadenylate-binding protein-interacting protein 2 protein-coding 1605487 PAIP2B poly(A) binding protein interacting protein 2B Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM] 16804161,17381337,16344560,10574461 400961 NM_020459,AC007878,AC007881,AC093654,CH471053,AB032981,AL110211,DA247526,DA346299 NP_065192,EAW99774,EAW99775,BAA86469,Q9ULR5,AAI56858 Hs.416735 KIAA1155 PABP-interacting protein 2B|PAIP-2B|poly(A)-binding protein-interacting protein 2B|polyadenylate-binding protein-interacting protein 2B protein-coding 1346880 PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 PAK proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. These proteins serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK1 regulates cell motility and morphology. Alternativelt spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2299169,2299165,2299166,2299167,2299168,2299159,2299164,2299157,2299171,1580863 20079895,20457839,20413688,20526801,15688026,15652748,11748279,16964243,16845324,16800003,16705121,16611744,16490785,16449192,16407834,16344560,16246732,16204230,16033904,16026643,16002401,15893667,15864311,15849194,15833848,15831477,15824732,15784622,15761153,15749698,15684429,15611088,15561713,15556869,15542607,15489334,15378030,15350535,15345747,15333633,15324660,15225553,15169762,15161701,15059930,15047871,14970201,14749719,14707132,14702039,14694110,14607331,14580336,14579272,12189148,16278681,8805275,18029348,19162178,19136554,18923061,18922890,18787380,18676874,18586681,18448666,18411304,18392133,18354494,18347024,18344974,18319303,18314909,18160398,18086875,18065495,18006851,17981134,17911169,17621631,17609315,17491012,17486065,17420447,17355222,17255101,17018616,17012749,11948406,11864573,11804587,11733498,11719502,11604394,11557983,11397816,11382770,11371639,11340065,11278486,11278241,11157752,11134022,11030651,10995762,10975528,10967094,10938077,10805734,10772928,10652353,10611223,10559936,10551809,10461188,10358014,10330411,10330410,10205168,10092231,10026169,9852149,9823899,9774445,9774440,9705280,9659915,9533029,9528787,9395435,9351825,9298982,9234708,9032240,8824201,8107774,7744004,11463741,10559302,12009866,11689886,16091223,10713183,9792838,7797518,8939608,15638726,9371615,9070423,8862424,8709288,12734410,8709241,8108442,12650940,9535855,11130076,15193260,15975516,16025104,12944407,15735674,15735692,14530270,12937139,12912914,12887923,12887916,12879077,12855698,12624090,12606577,12560069,12551923,12531429,12522133,12477932,12453877,12374744,12237306,12198493,12154000,12151336,12138087,12089369,12085993,12011045,12006652,11956071,11950930,11950587,20400510,10706722,10802735,11604131,11950598,16101281,16413544,18656238,18716323,18854161,19165420,19296259,19298660,19520772,19557173,19574218,19610058,19628037,19747561,19819966,20056178,20083228,20179234,20379614,20417602,20508983,20426825,20131316,20523167,20811717,21070974,20001745,20729389,15597056,20595063,20936779 2299169,2299165,2299166,2299167,2299168,2299159,2299164,2299157,2299171 5058 NM_002576,NM_001128620,AP000486,AP003680,CH471076,AF071884,AK055228,AK293098,AK295344,AK296006,BC050377,BC109298,BC109299,BE501896,BE502192,BI793123,BM451179,DA393732,U24152,U51120 NP_002567,NP_001122092,EAW75026,EAW75027,EAW75028,EAW75029,AAC24716,BAG51489,BAF85787,BAH12038,BAH12236,AAI09300,AAA65441,AAC50590,Q13153,Q9Y6B5,ACE87778,ACT64444 Hs.435714 MGC130000|MGC130001|PAKalpha PAK-1|STE20 homolog, yeast|alpha-PAK|p21-activated kinase 1|p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)|p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)|p65-PAK|serine/threonine-protein kinase PAK 1 protein-coding 1353310 PAK1IP1 PAK1 interacting protein 1 15489334,15302935,14702039,14574404,12477932,12429849,11371639,9373149,8125298,18029348,15761153 55003 NM_017906,AL358777,CH471087,AF283303,AK000631,AK225516,BC010907,BU618231 NP_060376,CAI14002,EAW55267,EAW55268,EAW55269,EAW55270,AAK57477,BAA91296,AAH10907,Q9NWT1,ABM83724,ABM87044 Hs.310231 FLJ20624|MAK11|PIP1|RP11-421M1.5|WDR84|bA421M1.5|hPIP1 PAK/PLC-interacting protein 1|PAK1-interacting protein 1|WD repeat-containing protein 84|p21-activated protein kinase-interacting protein 1 protein-coding 732793 PAK2 p21 protein (Cdc42/Rac)-activated kinase 2 The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq] 729574,1579879,1580863 7673144,7618083,7556080,1985906,16282498,15847608,17077296,16916529,16912329,16687395,15638726,14965316,20936779,20131316,20691406,15234964,19242610,18411304,18344974,18319301,18176785,17881449,17555715,17543336,17081983,16979207,16964243,16867995,16617111,16501114,16344560,16281055,16204230,15908432,15489334,15471851,15252450,15194762,15187108,15047871,15047825,14749374,12907671,12853446,12829691,12823590,12549935,12477932,12453877,12237306,12226077,12215529,11956071,11943200,11895474,11345898,11160719,11121037,11070003,10607567,10461188,10320322,10200518,10075701,10047984,9786869,9535855,9395435,9151826,16837009,11805089,10748018,7744004,12734410,11463741,9075929,11448168,16272310,12855553,9822598,12176041,17353931,10571231,11604131,15031289,16374509,18716323,19240112,19628037,19923322,20056178,2160950,2500966,20523167,20209159,21116278,20724730 729574,1579879 5062 NM_002577,NG_009227,AC055725,AC127904,AI140979,AK291339,BC031667,BC046197,BC063539,BC069613,BG572555,CA445078,CR600384,CR624656,DB164364,DQ786200,U24153,U25975 NP_002568,BAF84028,AAH69613,AAA65442,AAA75468,Q13177 Hs.518530 PAK65|PAKgamma PAK-2|S6/H4 kinase|gamma-PAK|p21 (CDKN1A)-activated kinase 2|p21-activated kinase 2|p58|serine/threonine-protein kinase PAK 2 protein-coding 731864 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, serve as targets for the small GTP binding proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then catalyzes a variety of targets. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47 (MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 18805672,18523455,16344560,16204230,15772651,15574732,15099969,14702039,12884430,12777533,12477932,12464619,12237306,11733498,11517222,11278553,11278486,11259591,11096073,10946356,10896954,10461188,10205168,9823899,9731525,9726964,9722579,9659915,9332663,9234708,9065412,8826460,8687195,11478794,14530271,18541383,20936779 5063 AB102258,AB102259,AB102260,AB102261,AB102262,AB102263,AB102264,AB102265,AB102266,AB102267,AB102268,AB102269,AB102270,AB102281,AB102282,AB102283,AB102284,AB102285,AB102286,AB102287,AB102288,AB102289,AB102290,AB102291,AB102292,AB102293,AB102294,AB102295,AB102296,AB102297,AB102298,AB102299,AB102300,AL031117,AL117326,AL356578,AL357774,AL590809,CH471120,AB102659,AF068864,AF155651,AI298548,AK128022,AK290504,AK315284,AM943851,AM943852,BC117353,BC117355,BC143544,BQ268758,DA022842,DA957724,DB563607,AM943850,NM_001128167,NM_002578,NM_001128168,NM_001128172,NM_001128173,NG_008288,AB102251,AB102252,AB102253,AB102254,AB102255,AB102256,AB102257,NM_001128166 BAC80756,BAC80757,BAC80758,BAC80759,BAC80760,BAC80761,BAC80762,BAC80763,BAC80764,BAC80765,BAC80766,BAC80767,BAC80768,BAC80769,BAC80780,BAC80781,BAC80782,BAC80783,BAC80784,BAC80785,BAC80786,BAC80787,BAC80788,BAC80789,BAC80790,BAC80791,BAC80792,BAC80793,BAC80794,BAC80795,BAC80796,BAC80797,BAC80798,BAC80799,CAI43157,CAI43158,CAI43167,CAI43168,CAI43169,CAI40843,CAI40844,CAI40845,EAX02653,EAX02654,BAC81128,AAC36097,AAF67008,BAF83193,BAG37693,CAQ16016,CAQ16017,CAQ16018,O75914,AAI52762,NP_001121638,NP_001121639,NP_002569,NP_001121640,NP_001121644,NP_001121645,BAC80750,BAC80751,BAC80752,BAC80753,BAC80754,BAC80755 Hs.656789 CDKN1A|MRX30|MRX47|OPHN3|PAK3beta|bPAK|hPAK3 OTTHUMP00000023856|PAK-3|beta-PAK|oligophrenin-3|p21 (CDKN1A)-activated kinase 3|p21-activated kinase 3|serine/threonine-protein kinase PAK 3 protein-coding 1317048 PAK4 p21 protein (Cdc42/Rac)-activated kinase 4 PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 17353931,9822598,19050074,20719960,20564219,20926745,18782768,18636970,18628988,18424072,18319301,17555715,17192257,17081983,16897755,16381901,16227624,16169070,15827085,15660133,15489336,15489334,15345747,15324660,14702039,14625312,12529371,12477932,12356872,11413130,11076863,10574461,10461188,11756552,15778465,20578242,20507994,19594544,19778628,18836286,20406887,20936779 10298 NM_005884,NM_001014835,NM_001014832,NM_001014834,AC011443,CH471126,AB032968,AF005046,NM_001014831,AJ011855,AK074728,AK291839,AK293517,AK294586,AK300632,AK304651,AL834236,BC002921,BC011368,BC025282,BC034511,BG773480,BM129363,CR591742,CR602156 NP_001014831,NP_005875,NP_001014835,NP_001014832,NP_001014834,EAW56858,EAW56859,EAW56860,EAW56861,EAW56862,EAW56863,EAW56864,EAW56865,EAW56866,BAA86456,AAD01210,CAA09820,BAC11166,BAF84528,BAG56999,BAG57777,BAG62322,BAG65427,CAD38914,AAH02921,AAH11368,AAH25282,AAH34511,O96013,CAL37500,CAL37629,CAL38389,ABM81965,ABM85144,ACT64540,ACT64541 Hs.20447 PAK-4|p21(CDKN1A)-activated kinase 4|p21-activated kinase 4|protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs|serine/threonine-protein kinase PAK 4 protein-coding 1314703 PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 This gene encodes a member of the p21-activated kinase (PAK) family. The proteins of this family are Rac/Cdc42-associated Ste20-like Ser/Thr protein kinases, characterized by a highly conserved amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. PAK kinases are implicated in the regulation of a number of cellular processes, including cytoskeleton rearrangement, apoptosis and the MAP kinase signaling pathway. The protein encoded by this gene was found to interact with androgen receptor (AR), which is a steroid hormone-dependent transcription factor that is important for male sexual differentiation and development. This gene was found to be highly expressed in testis and prostate tissues and the encoded protein was shown to cotranslocate into the nucleus with AR in response to androgen. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 17353931,18676680,18642328,18465753,16344560,15550393,15489334,14573606,12860998,12477932,12032833,11773441,11278661,20936779,17584649,19170196,19625176,20453000,20524398,19692168 56924 CS300520,AF276893,AJ236915,AK026592,AK131522,AK290227,AK315813,AK315817,BC035596,DA229537,HH961848,NM_001128628,NM_001128629,NM_020168,AC020658,AC025429,CH471125 CAK32184,AAF82800,CAC18720,BAG54772,BAF82916,BAF98704,BAF98708,AAH35596,Q9NQU5,ABM83035,ABM86229,CBX51397,EAW92401,NP_001122100,NP_001122101,NP_064553,EAW92395,EAW92396,EAW92397,EAW92398,EAW92399,EAW92400 Hs.513645 PAK5 PAK-5|PAK-6|p21(CDKN1A)-activated kinase 6|p21-activated kinase 6|p21-activated protein kinase 6|serine/threonine-protein kinase PAK 6 protein-coding 1323766 PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1580863 18628988,16581795,16189514,16014608,14702039,12897128,12477932,12032833,11950587,11780052,11756552,11733543,10880354,10837486,10574462,10521512,9381178,17353931,19415746,20877624,20379614,20564219,20936779 57144 NM_020341,AL031652,AL031682,AL034427,AL135935,AL353612,NM_177990,CH471133,AB033090,AB040812,AK095674,AK291401,AK307926,AK315820,AL133002,BC024179,CR595049 NP_817127,NP_065074,CAI42211,CAH71126,CAI23529,EAX10357,EAX10358,EAX10359,EAX10360,BAA86578,BAA94194,BAG53104,BAF84090,BAF98711,CAB61350,AAH24179,Q8TB93,Q9P286,Q9UJQ0,ABM81820,ABM84974 Hs.32539 KIAA1264|MGC26232|PAK5 PAK-5|PAK-7|p21(CDKN1A)-activated kinase 7|p21-activated kinase 5|p21-activated kinase 7|p21CDKN1A-activated kinase 7|protein kinase PAK5|serine/threonine-protein kinase PAK 7|serine/threonine-protein kinase PAK7 protein-coding 1605949 PALB2 partner and localizer of BRCA2 This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq] 2325776,2325779 19268590,19423707,19504183,19536649,19553677,19584259,19609323,19690177,19748364,19763819,19763884,19863560,19921424,20003494,20091115,20122277,20180015,20213081,19383810,19369211,19333784,19328558,19308021,19264984,19011769,18794107,18637200,18628482,18557994,18501021,18446436,18302019,18288683,18281473,20872766,20927582,17554300,17420451,17287723,17200672,17200671,17200668,16793542,16344560,15489334,15302935,14702039,12477932,18053174,20871615,20871616,19714462,19913121,20582465,20589654,20628086,20722467 2325776,2325779 79728 NM_024675,NG_007406,AC008870,CH471145,AK025469,AK097533,AK299152,AL834425,BC044254,BE670820,BX647125,BX647130,CR749637,DA192828,GM006654 NP_078951,EAW55811,EAW55812,EAW55813,BAB15140,BAC05090,BAG61201,CAD39086,AAH44254,CAH18431,Q86YC2,ACE87210,ACE86531,CAS97368 Hs.444664 DKFZp667I166|DKFZp686E1054|FANCN|FLJ21816|PNCA3 partner and localizer of BRCA2 protein-coding 1604638 PALLD palladin, cytoskeletal associated protein Palladin is a component of actin-containing microfilaments that control cell shape, adhesion, and contraction.[supplied by OMIM] 2325782,2325786,2325781 14702039,12601173,12477932,12191018,11870593,11309420,10931874,10810093,10231032,1159819,20708005,16125169,11598191,19336541,19056482,19023099,18978809,18521091,18073581,17975119,17967605,17687002,17537434,17525332,17515952,17455999,17415588,17322171,17287340,17228136,17194196,17081983,16964243,16794588,16367745,16175505,15815621,15489334,15310273,15147863,19913121,20628086,21054356,20811713,16344560,16355270,19205907,19709766,19752551,20379614,20471940 2325782,2325786,2325781 23022 AC079858,AC079926,AC080188,AC084353,AC115538,CH471056,AB023209,AF077041,AF151909,AF464873,AK000845,AK025843,AK095512,AK096458,AL050093,AW248292,AY211921,BC013867,BC140850,BC144666,NM_016081,BX537391,CR602630,AI418424,DA048169,DA211938,DB257974,NG_013376,NM_001166108,NM_001166109,NM_001166110 NP_057165,AAY40987,EAX04799,BAA76836,AAD27774,AAD34146,AAL69964,BAG53074,BAC04796,CAB43265,AAO65174,AAH13867,AAI40851,AAI44667,CAD97633,Q4W5A6,Q7L8P5,Q8WX93,NP_001159580,NP_001159581,NP_001159582 Hs.707322,Hs.151220 CGI-151|CGI151|FLJ22190|FLJ38193|FLJ39139|FLJ61376|KIAA0992|MYN|PNCA1|SIH002 OTTHUMP00000219712|OTTHUMP00000219714|myoneurin|palladin|sarcoma antigen NY-SAR-77 protein-coding 1344376 PALM paralemmin This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. 724596,1580863 9813098,9615234,17081983,16386234,16344560,15489334,15342556,15146197,15057824,14978216,14702039,12477932,9039502,8889548,17207965 724596 5064 AK301181,NM_002579,NM_001040134,AC004030,AC005763,CH471242,Y16270,Y16271,Y16272,Y16273,Y16274,Y16275,Y16276,Y16277,AK022919,AK315168,BC019596,BC032449,BM667870,BP199809,BU508077,CN344023,CR604455,D87460,DA521203,Y14770,Y16278 BAH13424,NP_002570,NP_001035224,AAC62429,EAW61161,EAW61162,EAW61163,EAW61164,CAA76151,BAG51135,BAG37611,AAH32449,BAA13400,CAB37400,CAB37401,CAA76152,O75781,ADQ31814 Hs.631841 KIAA0270 paralemmin protein-coding 1350120 PALM2 paralemmin 2 1580863 18978678,15489334,15164053,14702039,12477932,11478809,11181995,19893584,20306291,20379614,8889548 114299 NM_053016,NM_001037293,AL135789,AL158829,AL353806,AL627225,CH471105,AJ312216,AK095003,BC039306,BQ187933 NP_443749,NP_001032370,CAH73567,CAI13895,CAI13897,CAI12433,CAI12435,CAI10810,CAI10812,EAW59053,CAC59693,BAC04472,AAH39306,Q8IXS6,EAW59056 Hs.591908 AKAP2 A kinase (PRKA) anchor protein 2|OTTHUMP00000021889|OTTHUMP00000021890|OTTHUMP00000215851|OTTHUMP00000215852|paralemmin-2 protein-coding 1603446 PALM2-AKAP2 PALM2-AKAP2 readthrough transcript The PALM2-AKAP2 mRNA is a naturally occurring co-transcribed product of the neighboring PALM2 and AKAP2 genes. The significance of this co-transcribed mRNA and the function of its protein product have not yet been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms, but the full-length nature of some of these variants has not been defined. [provided by RefSeq] 17273791,12672969,12646697,12477932,11478809,11181995,10231032,9497389,20967262,19893584,20379614 445815 NM_147150,NM_007203,AL158823,AL158829,AL353598,AL353806,AL627225,CH471105,AB023137,AJ303079 NP_671492,NP_009134,CAI13896,CAI40816,CAI12434,CAI10811,EAW59051,EAW59052,EAW59054,EAW59055,EAW59057,BAA76764,CAC38839,CAI10813,CAI12436,CAI13898 Hs.591908 AKAP2|DKFZp686H1948 OTTHUMP00000021889|PALM2-AKAP2 protein|PALM2-AKAP2 readthrough transcript protein-coding 2803038 PALM3 paralemmin 3 10737800,15057824 342979 AC022098,AW130597,BG014761,CR747190,NM_001145028 A6NDB9,NP_001138500 Hs.444298 paralemmin-3 protein-coding 1313763 PALMD palmdelphin 1580863 17081983,15851553,15489334,14702039,12477932,11707320,11478809,19584346,20379614 54873 AK024654,AL390969,AL390970,AL390971,AL390972,AL390973,BC012570,BX648213,CK429905,CR603507,CR624809,NM_017734,AC105270,CH471097,AF262379,AJ312214,AK000278 BAB14946,CAC01335,CAC01336,CAC01337,CAC01338,AAH12570,Q9NP74,NP_060204,EAW72989,EAW72990,AAL33879,CAC59692,BAA91047 Hs.483993 C1orf11|FLJ20271|PALML palmdelphin|paralemnin-like protein protein-coding 735807 PAM peptidylglycine alpha-amidating monooxygenase This gene encodes a multifunctional protein. It has two enzymatically active domains with catalytic activities - peptidylglycine alpha-hydroxylating monooxygenase (PHM) and peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL). These catalytic domains work sequentially to catalyze neuroendocrine peptides to active alpha-amidated products. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene but some of their full length sequences are not yet known. [provided by RefSeq] 1580863,1357926,2302427 16344560,19571808,19693765,20351714,20379614,1448112,14559897,7606087,20534529,7590286,7999037,9837933,2357221,17081983,16107699,15489334,12699694,12477932,12364573,11668475,10574929,9562574,9139723,9110174,8619474,8543779,8530412,8518727,8486658,8288234,8144680,8102327,8094086,7760848 1357926,2302427 5066 BI966687,DA240822,NM_001177306,NR_033440,NM_138766,NM_138822,NM_138821,AC008779,AC010250,AC113373,CH471086,U20090,AB095007,AF010472,AF035320,AK290158,AK296521,BC018127,BT007419,M37721,NM_000919,S75037,S75038,U19965,U19966,HI573898,HI573900,HI573902,HI573904 NP_001170777,NP_000910,NP_620121,NP_620177,NP_620176,EAW49084,EAW49085,EAW49086,EAW49087,EAW49088,EAW49089,EAW49090,EAW49091,EAW49092,AAB60658,BAC22594,AAD01439,AAB88190,BAF82847,BAG59152,AAH18127,AAP36087,AAA36414,AAB32775,AAB32776,AAB91431,AAB91432,O43211,O43832,P19021,Q13749,Q7KYY0,CBX47438,CBX47439,CBX47440,CBX47441 Hs.369430 PAL|PHM OTTHUMP00000222752|OTTHUMP00000222753|pancreatic peptidylglycine alpha-amidating monooxygenase|peptidyl alpha-amidating enzyme|peptidyl-alpha-hydroxyglycine alpha-amidating lyase|peptidyl-glycine alpha-amidating monooxygenase|peptidylamidoglycolate lyase|peptidylglycine 2-hydroxylase|peptidylglycine alpha-hydroxylating monooxygenase protein-coding 1604026 PAMR1 peptidase domain containing associated with muscle regeneration 1 15111323,14702039,12975309,12477932,20379614 25891 NM_001001991,NM_015430,AC090625,AL354921,CH471064,AF370388,AK027841,AK297092,AK300185,AK316188,AL050214,AL832391,AY358346,BC038457,BC089434,BX640676 NP_001001991,NP_056245,EAW68140,AAQ15224,BAB55404,BAH12494,BAH13231,BAH14559,CAB43317,CAI46203,AAQ88712,AAH89434,CAE45808,Q6UXH9 Hs.55044 DKFZP586H2123|FP938|RAMP inactive serine protease PAMR1|peptidase domain-containing protein associated with muscle regeneration 1|regeneration associated muscle protease|regeneration-associated muscle protease homolog protein-coding 1348496 PAN2 PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 19913121,20628086,16964243,16344560,16284618,14715245,14702039,14583602,12838346,12477932,11148209,9734811,15489334,17785442,18056425,19615732 9924 NM_014871,NM_001127460,AC025574,AC073896,CH471054,AB014610,AB107585,AK001232,AK096679,AK310822,BC024043,BC094885,BX648106,CR594501,DB290197,DB458902,NM_001166279 NP_055686,NP_001120932,EAW96928,EAW96929,EAW96930,EAW96931,EAW96932,BAA31685,BAD02263,BAG50873,AAH24043,AAH94885,Q504Q3,NP_001159751 Hs.273397 FLJ39360|KIAA0710|USP52|hPAN2 PAB-dependent poly(A)-specific ribonuclease subunit 2|PABP-dependent poly(A) nuclease 2|PAN2 polyA specific ribonuclease subunit|inactive ubiquitin carboxyl-terminal hydrolase 52|ubiquitin specific peptidase 52|ubiquitin specific protease 52 protein-coding 1603874 PAN3 PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 19615732,18029348,15489334,15057823,14702039,14583602,12975309,12477932,18056425 255967 BE671612,AL138712,AL356915,CH471075,AB107584,AB109552,AK091307,AK131556,AK296435,AY358261,BC024318,NM_175854,BC128179,BC128180,BX647740,CR608882 NP_787050,CAI14848,CAM20921,CAI12449,CAI12450,EAX08430,BAD02262,BAD93184,BAC03632,BAD18690,BAH12353,AAQ88628,AAH24318,AAI28180,AAI28181,CAI45987,Q58A45,Q6UXP2,Q6ZMN5 Hs.645015 OTTHUMP00000018179|OTTHUMP00000018180|PAB-dependent poly(A)-specific ribonuclease subunit 3|PABP-dependent poly(A) nuclease 3|PABP1-dependent poly A-specific ribonuclease subunit PAN3|hPan3 protein-coding 1312259 PANK1 pantothenate kinase 1 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, have been identified. [provided by RefSeq] 1580863 14523052,19060910,17631502,15489334,15164054,12477932,12379284,11809413,11479594,2981478,18029348,16385451,20379614 53354 NM_148977,NM_138316,NM_148978,AL157400,CH471066,AF355198,AK057932,AK125428,AK127777,AY027661,AY027662,AY027663,BC026296,BC036934,BK000008,BK000009,CR600267 NP_683878,NP_612189,NP_683879,CAI16826,CAI16827,EAW50130,EAW50131,EAW50132,EAW50133,AAL86371,BAG54195,BAG54569,AAK20916,AAK20917,AAK20918,AAH26296,DAA00002,DAA00003,Q8TE04,AAI56382,AAI72476 Hs.376351 MGC24596|PANK|PANK1a|PANK1b hPanK|hPanK1|pantothenate kinase 1|pantothenic acid kinase 1 protein-coding 1313038 PANK2 pantothenate kinase 2 This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq] 731233,1580863 17903678,17825826,17631502,17242360,17101457,16962235,16450344,16437574,16272150,16240131,15911822,15843062,15793782,15747360,15659606,15465096,15390030,15105273,14743358,14702039,14639680,12554685,12477932,12058097,11780052,11479594,8944032,2981478,17353931,18239249,18074375,18006953,18029348,20877624,19224615,20006850,20721927,20603201 731233 80025 CR600050,CR618246,NM_153638,NM_153640,NG_008131,AL031670,AL353194,CH471133,AF086501,AF494409,AK021791,AK097796,AK310190,AL519408,AL532307,AL713654,BC009421,BC065019,BC093633,BC101569,BC101571,BC107724,BC142976,BF698882,BK000010,CR596823,NM_024960 Q52M85,Q6P1K9,Q9BZ23,NP_079236,NP_705902,NP_705904,CAI22385,CAI22386,CAI11036,CAI11037,EAX10476,EAX10478,AAN32907,BAB13897,BAC05173,CAD28463,AAH65019,AAH93633,AAI01570,AAI01572,DAA00004 Hs.516859 C20orf48|FLJ17232|HARP|HSS|MGC15053|NBIA1|PKAN Hallervorden-Spatz syndrome|hPanK2|pantothenate kinase 2, mitochondrial|pantothenic acid kinase 2 protein-coding 1321488 PANK3 pantothenate kinase 3 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. 731233,1580863 18029348,14702039,11479594,12477932,9373149,8125298,2981478,17631502,15489334,1695905,20797618 731233 79646 AC020894,NM_024594,CH471062,AK022961,AK223285,BC013705,BK000011,BC047113,BX648891,CR612518,M55536,AA831520,CB045475 NP_078870,EAW61503,EAW61504,EAW61505,BAB14333,BAD97005,AAH13705,DAA00005,Q9H999 Hs.591729,Hs.388400 DKFZp686O22247|FLJ12899|MGC16863 hPanK3|pantothenate kinase 3|pantothenic acid kinase 3 protein-coding 731329 PANK4 pantothenate kinase 4 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq] 731233,1580863 16710414,16132722,16038259,15489334,14702039,12477932,11479594,9373149,8125298,2981478,18029348,16169070 731233 55229 CH471183,AK001644,AK223546,AK309860,AL442072,BC043496,BK000012,BK000013,CR605034,CR749728,NM_018216,AK295301,AK303127,AL139246 Q9NVE7,NP_060686,EAW56097,EAW56098,EAW56099,BAA91805,BAD97266,CAC09438,AAH43496,DAA00006,DAA00007,CAH18490,Q68CU4,Q7RTX2,BAG58281,BAG64233,CAX30819 Hs.26156 DKFZp547M242|FLJ10782 OTTHUMP00000220861|OTTHUMP00000220862|hPanK4|pantothenate kinase 4|pantothenic acid kinase 4 protein-coding 1347653 PANX1 pannexin 1 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq] 1580863 20628624,20516070,20622111,20944749,17036048,19150332,19056988,18596211,17925379,17715132,17240370,16908669,16690868,16682648,16303743,15489334,15028292,14597722,12975309,12477932,18029348,19213873,20086016,20884646,20660288 24145 AF283663,AF398508,AP002784,AP003966,AY048509,CH471065,AF093239,AF398509,AK074897,AK313074,AY359023,NM_015368,BC016931,CA418094,FM201789,CQ782865,NG_027936 NP_056183,AAK73361,AAK91713,AAL06604,EAW66924,EAW66925,EAW66926,AAC61779,AAK91714,BAC11276,AAQ89382,AAH16931,CAR31475,Q96RD7,CAF86093 Hs.591976 MGC21309|MRS1|PX1|UNQ2529 innexin|pannexin-1 protein-coding 1349764 PANX2 pannexin 2 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17474147,17427027,16989724,16344560,15461802,15028292,14702039,14597722,12477932,10591208,8889548,20516070,19749789,19851296,20198315 56666 NM_052839,NM_001160300,NR_027691,AL022328,CH471138,AF398510,AF398511,AK096019,AK123508,AK299910,BC101023,BQ576292,BU732466,BU734128,CA432022,CR456467,DA116770,DA127683 NP_443071,NP_001153772,EAW73494,EAW73495,EAW73496,AAK91715,AAK91716,BAG53199,BAH13170,AAI01024,CAG30353,Q495U3,Q6ICA1,Q96RD6,CAK54448,CAK54747 Hs.440092 MGC119432|PX2|hPANX2 OTTHUMP00000196720|pannexin-2 protein-coding 1351582 PANX3 pannexin 3 The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq] 1580863 17925379,15028292,14597722,20404334,20086016 116337 NM_052959,AP001524,CH471065,AA456140,AF406650 NP_443191,EAW67588,AAK95655,Q96QZ0,AAI52945 Hs.99235 PX3 gap junction protein pannexin 3|pannexin-3 protein-coding 1320571 PAOX polyamine oxidase (exo-N4-amino) 20405312,16354669,16207710,15489334,14702039,12975309,12660232,12477932,12477380 196743 AY541518,AY541519,AY541520,AY541521,AY541522,AY541523,AY541524,BC032778,BE646315,CR594830,CR616123,NM_152911,NM_207128,NM_207127,AL360181,CH471211,AF226657,AF312698,AK124186,AK128001,AL834535,AY358418,AY541513,AY541514,AY541515,AY541516,AY541517 AAS64378,AAS64379,AAS64380,AAS64381,AAS64382,AAS64383,AAS64384,AAH32778,ABM82239,ABM84277,AAS64377,ABM85423,NP_690875,NP_997011,NP_997010,CAH70287,CAM13077,EAW61340,EAW61341,EAW61342,EAW61343,EAW61344,EAW61345,EAW61346,EAW61347,AAN40706,AAO63265,BAG54616,CAD39191,AAQ88784,AAS64373,AAS64374,AAS64375,AAS64376,ABM87669 Hs.532469 DKFZp434J245|MGC45464|PAO OTTHUMP00000180554|peroxisomal N1-acetyl-spermine/spermidine oxidase|polyamine oxidase protein-coding 1604517 PAP2D phosphatidic acid phosphatase type 2 The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 16010976,12477932,9110174,8619474,20032306,20379614 163404 NM_001037317,NM_001010861,AL161744,AL445433,AL590110,CH471097,AF131783,AK295688,AY574039,AY634620,BC040174,BC136350,BC144000,BF514931,CR605411,DR001828,FJ472844,R37934 NP_001032394,NP_001010861,CAI22993,CAH71558,CAH71749,EAW72994,BAG58540,AAS76645,AAT64918,AAH40174,AAI36351,AAI44001,ACJ60628,Q32ZL2,AAI40087,AAI43087 Hs.483948 PAP2|PAP2D|PRG5 PRG-5|lipid phosphate phosphatase-related protein type 5|phosphatidic acid phosphatase 2d|phosphatidic acid phosphatase type 2|plasticity-related gene 5 protein|plasticity-related protein 5 protein-coding 1315054 PAPD4 PAP associated domain containing 4 737633 15070731,16344560,15146197,14702039,12477932,18172165,20144904 737633 167153 NM_173797,NM_001114393,NM_001114394,AK095818,AL833136,BC026061,BC047581,CN348312,DB142133,AC008482,CH471084 NP_776158,NP_001107865,EAW95838,BAC04629,AAH26061,AAH47581,Q6PIY7,NP_001107866,EAW95837 Hs.418198 FLJ38499|GLD2 OTTHUMP00000222201|PAP-associated domain-containing protein 4|TUTase 2|hGLD-2|poly(A) RNA polymerase GLD2|terminal uridylyltransferase 2 protein-coding 1320003 PAPD5 PAP associated domain containing 5 1580863 14702039,12477932,10066793,9373149,8125298,18172165,20379614 64282 NM_001040284,NM_001040285,AC007597,AC007610,CH471092,AF089897,AK001141,AK097589,AK098806,AK223410,AK299294,AK300918,AL833922,BC035270,BC089405,BC143706,DN994465 NP_001035374,NP_001035375,EAW82747,EAW82748,EAW82749,EAW82750,AAD45199,BAA91518,BAD97130,BAG61309,BAG62550,CAD38778,AAH89405,AAI43707,Q53F79,Q5EBM7,Q8NDF8,AAI56330,AAI57080 Hs.514342 FLJ40270|TRF4-2 PAP-associated domain-containing protein 5|TUTase 3|terminal uridylyltransferase 3|topoisomerase-related function protein 4-2 protein-coding 1604436 PAPL iron/zinc purple acid phosphatase-like protein Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM] 16793224,12477932 390928 NM_001004318,AC011443,CH471126,AK131245,BC127841,BC136721,BC136722,BC142613,BC150149 NP_001004318,EAW56857,BAD18425,AAI36722,AAI36723,Q6ZNF0 Hs.448934 FLJ16165 iron/zinc purple acid phosphatase-like protein|purple acid phosphatase long form protein-coding 1322495 PAPLN papilin, proteoglycan-like sulfated glycoprotein 1580863 16344560,14702039,12975309,12477932,11076767,19724244,19734141,20379614 89932 NM_173462,AC004846,AF109907,CH471061,AK021713,AK125658,AK127354,AK131073,AK293773,AK294560,AL110280,AY358330,BC042057,BC136623,BC144315,BX470414,BX537757,DA121177,DB088927 NP_775733,AAC97963,EAW81098,EAW81099,BAC86235,BAG54493,BAC85123,BAG57189,BAG57757,CAH56406,AAQ88696,AAH42057,AAI36624,CAD97826,O95428 Hs.509909 DKFZp434F053|MGC50452 papilin protein-coding 1318583 PAPOLA poly(A) polymerase alpha 1580863 12226669,8302877,18029348,15489334,15302935,15231748,15169763,17172643,14749727,14743216,14702039,14517258,12477932,11878934,10742179,10429366,9356495,8491200,20174964 10914 AK316168,BC015150,BC036014,BX161482,BX248301,BX248753,CR608973,CR609719,X76770,BC000927,NM_032632,AL163051,CH471061,AF002990,AK024849,AK097832,AK295020,AK302406,AK302984,AK303402,AK307659,AK307680 BAH14539,AAH00927,AAH36014,CAD61935,CAD62628,CAD66560,P51003,NP_116021,EAW81642,EAW81643,EAW81644,EAW81645,EAW81646,EAW81647,EAW81648,EAW81649,BAG58079,BAG63716,BAG64124,BAG64456 Hs.253726 MGC5378|PAP PAP-alpha|poly(A) polymerase alpha|polynucleotide adenylyltransferase alpha protein-coding 1322134 PAPOLB poly(A) polymerase beta (testis specific) 1580863 15489334,12477932,11459229,11150526,8491200 56903 NM_020144,AC092610,CH236953,AF218840,AK312788,BC036653,HC007204,HC044681 NP_064529,AAS07561,EAL23967,AAF81013,AAH36653,Q9NRJ5,ABM82152,ABM85337,CBH19407,CBH30670 Hs.487409 PAPT|TPAP OTTHUMP00000200478|PAP-beta|poly(A) polymerase beta|polynucleotide adenylyltransferase beta|testis-specific poly(A) polymerase protein-coding 1321183 PAPOLG poly(A) polymerase gamma This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. 1580863 20513922,15489334,15302935,14702039,12477932,11463842,11431479,11287430,8491200,16344560 64895 NM_022894,AC011245,AC012498,CH471053,AB209304,AF312211,AJ308101,AK021867,AK023034,AK023544,AK024249,AK314663,AW515951,AY029162,BC016738,BC028593,BC068493,BC110906,BC111701,BC113747,BX647824,AI419423,DB082179 NP_075045,AAY14677,AAY14832,EAX00029,EAX00030,EAX00031,EAX00032,EAX00033,EAX00034,BAD92541,AAK83701,CAC59751,BAB13919,BAB14368,BAB14604,BAB14858,BAG37221,AAK31791,AAH16738,AAI10907,AAI11702,AAI13748,Q05DB9,Q2TAI9,Q53T17,Q53T81,Q59G05,Q9BWT3,Q9H7W6,Q9H968 Hs.387471 FLJ11805|FLJ12972|FLJ13482|FLJ14187|MGC133307|MGC133308 PAP-gamma|SRP RNA 3' adenylating enzyme/pap2|SRP RNA 3'-adenylating enzyme|neo-PAP|neo-poly(A) polymerase|nuclear poly(A) polymerase gamma|poly(A) polymerase gamma|polynucleotide adenylyltransferase gamma protein-coding 1317112 PAPPA pregnancy-associated plasma protein A, pappalysin 1 This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq] 1580863,1642328,1642330,1642331,1642324,1642325,1642326,1642327,1642329,2313776,2313777 20472761,20388505,18029348,20716560,18279673,15919757,20515576,20734665,20509148,20583170,10077652,10913121,19646567,19365167,19328196,19318028,19304869,19173346,19106261,19003798,18925584,18855223,18805800,18789800,18552658,18434323,18391950,18377765,18295168,18267116,18089325,17936662,17714879,17700210,17565927,17516846,17509577,17437322,17314100,17237617,17223728,17177834,17145752,16963045,16959807,16388849,16344560,16115888,16086443,15754336,15656990,15647258,15489334,15450385,15305104,15262980,15146551,14988014,14705967,14702039,14657012,14530192,12970325,12817760,12744930,12687209,12626203,12524241,12477932,12421832,12414897,12370176,12241545,12213189,12087395,11914564,11897673,11822024,11522292,11134163,10491647,8620868,7685339,7679961,7586586,7539791,7526035,7512304,7508748,6207082,6203109,6172371,6084247,2438405,2427179,2422961,1721035,20087924,15231748,19246276,19842139,19842999,19862778,20148724,20379614,9751498,16522924,20865665 1642328,1642330,1642331,1642324,1642325,1642326,1642327,1642329,2313776,2313777 5069 AL137024,AL353141,AL691426,AY623013,BX640901,CH471090,AF085834,AF085855,AJ420429,AJ420467,AK024330,AK092441,AK094182,AK129714,AK300128,AK300129,AK308154,AU139179,AY140907,AY189937,AY302185,NM_002581,AY623010,BC062657,BC078657,BG572566,BG622932,BG623020,BU158714,CB960120,CB988079,CB989873,CR597268,R75872,W04151,X68280,HC007206 NP_002572,CAI14281,CAI16083,CAI16715,AAV41521,EAW87439,EAW87440,EAW87441,EAW87442,BAG61919,BAG61920,AAN25598,AAO25648,AAP68818,AAV41518,AAH78657,CAA48341,Q13219,Q5QFB7,Q7Z613,Q86YM8,Q8IWT8,CBH19408 Hs.643599 ASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1 IGF-dependent IGFBP-4 protease|aspecific BCL2 ARE-binding protein 2|differentially placenta 1 expressed protein|insulin-like growth factor-dependent IGF binding protein-4 protease|insulin-like growth factor-dependent IGF-binding protein 4 protease|pappalysin-1|pregnacy-associated plasma protein A protein-coding 1312133 PAPPA2 pappalysin 2 1580863 11264294,18818296,18805800,18374411,16710414,15231748,12477932,12466191,11597188,11018262,9883900,19474058,19834535,20103653,20304771,20379614 60676 NM_021936,AL031290,AL031734,AL139282,AL596254,CH471067,AB209369,AF311940,AF342989,AF342990,AJ278348,BC062665,BC104644,NM_020318,BC117193,BC117195,BC152552,CR590333,NG_023390 NP_064714,NP_068755,CAI22721,CAI22172,CAI22173,CAI19567,CAH71731,CAH71732,EAW91003,EAW91004,BAD92606,AAK31073,AAL17779,AAL17780,CAC11134,AAI17194,AAI17196,Q59FU0,Q9BXP8,AAI56075,AAI57040 Hs.187284 PAPP-A2|PAPPE|PLAC3 PAPP-E|pappalysin-2|placenta-specific 3|pregnancy-associated plasma preproprotein-A2|pregnancy-associated plasma protein A2|pregnancy-associated plasma protein E1|pregnancy-associated plasma protein-E protein-coding 1317646 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM] 1580863 16169070,9771708,19337310,19008949,17540769,16344560,15755455,15489334,15065880,14747722,12716056,12477932,11931637,10679223,10657990,9915785,9671738,9668121,9648242,9576487,20335228,20332099 9061 NM_005443,AC004045,AC098586,AC106861,AF097710,AF097711,AF097712,AF097713,AF097714,AF097715,AF097716,AF097717,AF097718,AF097719,AF097720,AF097721,CH471057,U53447,AF016496,AF105227,AK292774,AK297981,AU132232,BC011392,BC032513,BC040940,BC050627,BQ437924,BU517185,CR457028,Y10387,AF033026 NP_005434,AAY40925,AAY41043,AAF40235,EAX06210,AAC39894,AAD09325,AAC28429,AAF40236,BAF85463,BAH12699,AAH11392,AAH32513,AAH50627,CAG33309,CAA71413,O43252,Q05BW9,Q4W5F0,Q4W5H3,Q6IAX6,ABM81969,ABM85148 Hs.368610 ATPSK1|PAPSS|SK1 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 1|PAPS synthase 1|PAPSS 1|SK 1|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1|sulfurylase kinase 1 protein-coding 1315952 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq] 1580863 17353931,9771708,15489334,12477932,11931653,11931637,11773860,11558903,11159808,10679223,10657990,10559207,9714015,9671738,16385451,19727025,20379614 9060 NM_004670,NG_012150,AF160503,AF160504,AF160505,AF160506,AF160507,AF160508,AF160509,AF173364,AL133327,AL138767,CH471066,AF074331,AF091242,AF150754,NM_001015880,AF173365,AF313907,AK301453,AK309262,AK312556,BC009894,BQ221395,BQ772647,BQ888954,CB960618,CR606817,CR619173 NP_001015880,NP_004661,AAF40307,AAF12780,CAI16702,CAI16028,EAW50181,EAW50182,EAW50183,AAD38423,AAC64583,AAF20366,AAF12761,AAK00296,BAG62977,BAG35453,AAH09894,O95340,Q5TB52,Q9UIR2,ABM84551,ABM86356 Hs.524491 ATPSK2|SK2 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2|ATP sulfurylase/APS kinase 2|ATP sulfurylase/adenosine 5'-phosphosulfate kinase|PAPS synthase 2|PAPS synthetase 2|PAPSS 2|SK 2|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2 protein-coding 1321322 PAQR3 progestin and adipoQ receptor family member III 737633 18547165,18515281,17724343,16344560,16044242,15489334,14702039,12477932,17207965,19519172,19884349 737633 152559 NM_001040202,AC093841,CH471057,CQ859770,AK055774,AK126273,AK291232,AL080110,AY424281,BC029604,BC031256,BC047510,BX648346,CR604581,CR606971,DA410845 NP_001035292,EAX05836,EAX05837,EAX05838,EAX05839,CAH25935,BAG51571,BAG54300,BAF83921,AAR08369,AAH31256,AAH47510,Q6TCH7,ADQ31950 Hs.657312 RKTG OTTHUMP00000219588|OTTHUMP00000219591|Raf kinase trapping to Golgi|progestin and adipoQ receptor family member 3 protein-coding 1319922 PAQR4 progestin and adipoQ receptor family member IV 737633 16344560,16044242,15489334,14702039,12477932,20694148 737633 124222 HD061936,NM_152341,AC004235,CH471112,AK054564,AK092173,AK291373,AK295348,AL832527,AY424282,BC033703,CR594447,CR609445,CR609513,CR622431,CR623107,DA268775,DB505162 CBS99530,NP_689554,EAW85441,EAW85442,EAW85443,EAW85444,BAB70758,BAC03821,BAF84062,BAG58316,AAR08370,AAH33703,Q8N4S7,ACE87344,ACE86661 Hs.351474 FLJ30002 progestin and adipoQ receptor family member 4 protein-coding 1606550 PAQR5 progestin and adipoQ receptor family member V 18603275,16044242,12601167,12574519,12477932,20889312 54852 NM_017705,NM_001104554,AC026992,AC027237,CH471082,AK000197,AW779994,AY424283,BC039234,BE747523,CR609133,HD061938 NP_060175,NP_001098024,EAW77838,EAW77839,BAA91004,AAR08371,AAH39234,Q9NXK6,ABM86765,ABW03821,CBS99532 Hs.591096 FLJ20190|MPRG OTTHUMP00000164447|mPR gamma|membrane progestin receptor gamma|progestin and adipoQ receptor family member 5 protein-coding 1323634 PAQR6 progestin and adipoQ receptor family member VI 20139978,16044242,15489334,14702039,12477932,18603275 79957 NM_198406,AL135927,CH471121,AF455045,AF455046,AF455047,AK026325,AK054682,AK094346,NM_024897,HD061940,AK095143,AK095197,AK307441,AY424284,BC058509,BC071623,CR590814,CR618069,CR619912,CR621140,AL834227,AK294143,AK295915,AK295916,AK316034 NP_079173,NP_940798,CAI15542,CAI15543,CAI15544,EAW52975,EAW52976,EAW52977,EAW52978,EAW52979,EAW52980,EAW52981,EAW52982,EAW52983,EAW52984,AAP97701,AAP97702,AAP97703,BAB15446,CBS99534,BAC04493,BAC04497,AAR08372,AAH58509,AAH71623,Q5TCK7,Q5TCK8,Q6IQ11,Q6TCH4,Q7Z4Q8,CAD38905,BAG57469,BAG58703,BAG58704,BAH14405 Hs.235873 FLJ22672 OTTHUMP00000018882|OTTHUMP00000018884|progestin and adipoQ receptor family member 6 protein-coding 1606437 PAQR7 progestin and adipoQ receptor family member VII 19071147,18603275,17082257,16044242,15489334,12606724,12601167,12574519,12477932,17207965 164091 NM_178422,AL033528,CH471059,AA778580,AF313620,AY424285,BC034015,BC042298,BC127800,CA434186 NP_848509,CAM12867,EAX07862,AAO47233,AAR08373,AAH34015,AAI27801,Q5XKF9,Q86WK9,ADQ31948 Hs.523652 MPRA|PGLP|mSR 2310021M12Rik|mPR alpha|membrane progestin receptor alpha|progestin and adipoQ receptor family member 7 protein-coding 1323309 PAQR8 progestin and adipoQ receptor family member VIII 16044242,15489334,15146197,14702039,14574404,12606724,12601167,12574519,12477932,12107412,11676489,18603275,17207965 85315 HD061944,NM_133367,AL136125,AL138722,CH471081,AF313619,AF347029,AI655504,AI656485,AJ420470,AK057083,AK093603,AK128085,AK315088,AY424286,BC030664,CD672455,CN283490,CN395844 CBS99536,Q8TEZ7,NP_588608,CAC05478,EAX04368,EAX04369,AAO47232,AAL79777,BAG54628,BAG37553,AAR08374,AAH30664,ADQ32286 Hs.239388 C6orf33|FLJ32521|FLJ46206|LMPB1|MPRB OTTHUMP00000217782|OTTHUMP00000217783|chromosome 6 open reading frame 33|lysosomal membrane protein in brain 1|lysosomal membrane protein in brain-1|mPR beta|membrane progestin receptor beta|progestin and adipoQ receptor family member 8 protein-coding 1323015 PAQR9 progestin and adipoQ receptor family member IX 14702039,12477932,15489334,18603275,16044242 344838 NM_198504,AC021074,CH471052,AK093381,AK123932,AY424287,BC030124,BC118666,BC122527,HD061946 NP_940906,EAW78959,BAC85729,AAR08375,AAI18667,AAI22528,Q6ZVX9,CBS99538 Hs.408385,Hs.656111 FLJ41938 progestin and adipoQ receptor family member 9 protein-coding 731593 PARD3 par-3 partitioning defective 3 homolog (C. elegans) PARD proteins, which were first identified in C. elegans, are essential for asymmetric cell division and polarized growth, whereas CDC42 (MIM 116952) mediates the establishment of cell polarity. The CDC42 GTPase, which is controlled by nucleotide exchange factors (GEFs; see MIM 606057) and GTPase-activating proteins (GAPs; see MIM 604980), interacts with a large set of effector proteins that typically contain a CDC42/RAC (MIM 602048)-interactive binding (CRIB) domain.[supplied by OMIM] 1580863 18636124,18562307,18319301,17989107,17609107,17287830,17081983,17057644,17053785,16678097,16505165,15951569,15782111,15723052,15489334,15324660,15302935,15144186,14760703,14702039,12650946,12515806,12477932,12459187,12234671,11642408,11447115,11257119,11149944,10954424,12953056,15254234,17353931,15778465,20191563,11260256,10934474,14676191,19240061,18984674,18685789,19913121,20628086,15723051,16341674,16385451,16458856,17235357,19503097,19592499,19684603,19737411,19812038,20095854,20096742,20379614,8889549,20709820 56288 NM_019619,AL138768,AL392123,AL450337,AL590039,AL603963,CH471072,AB073671,AF177228,AF196185,AF196186,AF252293,AF332592,AF332593,AF454057,AF454058,AF454059,AF467002,AF467003,AF467004,AF467005,AF467006,AK000761,AK024668,AK025892,AK027735,BC011711,BC071566,AL160409,AL360233,AL390766,AA136967,AW242451,BE464617,BM796605,NM_001184785,NM_001184786,NM_001184787,NM_001184788,NM_001184789,NM_001184790,NM_001184791,NM_001184792,NM_001184793,NM_001184794,AK172827 NP_062565,CAI16985,CAI17327,CAI17328,CAI17329,CAI17330,CAI17331,CAI17332,CAI17333,CAI17334,CAI17335,CAI15035,CAI15036,CAI15037,CAI15038,CAI17311,CAI15039,CAI15040,CAI15041,CAI15042,EAW85932,EAW85933,EAW85934,BAC54037,AAG33676,AAK27891,AAK27892,AAF71530,AAK69192,AAK69193,AAN75697,AAN75698,AAN75699,AAL76042,AAL76043,AAL76044,AAL76045,AAL76046,BAA91366,BAB55330,AAH11711,CAI16987,CAI16988,CAI16989,CAI16990,CAI16991,CAI16992,CAH73524,CAH73525,CAH73526,CAH73527,CAH73528,CAH73529,CAH71161,CAH71162,CAH71163,CAH71164,CAH71165,CAH71166,CAH71167,CAH71168,CAI17304,CAI17305,CAI17306,CAI17307,CAI17308,CAI17309,CAI17310,CAI16986,AAH71566,Q5VWU8,Q5VWV2,Q6IQ47,Q8IX26,Q8IX27,Q8IX28,Q8TEW0,NP_001171714,NP_001171715,NP_001171716,NP_001171717,NP_001171718,NP_001171719,NP_001171720,NP_001171721,NP_001171722,NP_001171723 Hs.131489 ASIP|Baz|Bazooka|FLJ21015|PAR3|PAR3alpha|PARD3A|SE2-5L16|SE2-5LT1|SE2-5T2 CTCL tumor antigen se2-5|OTTHUMP00000019427|OTTHUMP00000019434|PAR3-alpha|PARD-3|atypical PKC isotype-specific interacting protein|atypical PKC isotype-specific-interacting protein|partitioning defective 3 homolog|three-pdz containing protein similar to c. elegans par3 (partitioning defect) protein-coding 1312545 PARD3B par-3 partitioning defective 3 homolog B (C. elegans) 1580863 18471798,16458856,15721295,15324660,14702039,12477932,12459187,12234671,11586298,12650946,15778465,20670164,20677014,20694014,20379614 117583 AF428250,NM_205863,NM_057177,NM_152526,AC007385,AC007465,AC007736,AC007746,AC008168,AC008171,AC009316,AC011750,AC016903,AC108468,CH471063,AB053321,AB073472,AB092439,AF428251,AF466152,AI742400,AK056157,AK057965,AL832951,AW274720,BC012984 NP_995585,NP_476518,NP_689739,AAX76515,AAY24228,AAX88974,AAY24325,AAY15023,AAY24245,AAY14757,AAX93083,EAW70358,EAW70359,EAW70360,BAB69028,BAC54035,BAC54285,AAL30664,AAL30665,AAL79827,BAB71106,BAB71623,Q4ZG80,Q53SN0,Q53T65,Q53TI4,Q53TL6,Q53TP8,Q53TQ6,Q587I4,Q8TEW8,AAI56253,AAI72499 Hs.657382 ALS2CR19|MGC16131|PAR3B|PAR3L|PAR3LC|PAR3beta|Par3Lb PAR3-L protein|PAR3-beta|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein|partitioning defective 3 homolog B|partitioning defective 3-like protein|partitioning-defective 3-beta|partitioning-defective 3-like protein-coding 1345737 PARD6A par-6 partitioning defective 6 homolog alpha (C. elegans) This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 9482110,18562307,17976838,17586613,17420281,17335965,17057644,17050699,15831491,15782111,15761153,15761148,15744531,15590654,15489334,15345747,15254234,14976222,14718572,14676191,12545177,12477932,12459187,11260256,11257119,10954424,10934474,10873802,16189514,20719959,12606577,12629547,12813044,17350623,18922891,19379695,19617897,19667198 50855 NM_016948,NM_001037281,AC010530,CH471092,AB041642,AB043634,AF028827,AF252292,AF265565,AJ277095,BC015626,CR617308 ABM84403,ABM87346,NP_058644,NP_001032358,EAW83151,BAB16105,BAA96235,AAB84252,AAF71529,AAF75548,CAB85490,AAH15626,Q9NPB6 Hs.112933 PAR-6A|PAR6|PAR6C|PAR6alpha|TAX40|TIP-40 PAR-6 alpha|Tax-interacting protein 40|par-6 partitioning defective 6 homolog alpha (c.elegans)|partitioning defective 6 homolog alpha|partitioning defective-6 homolog alpha|partitioning-defective protein 6|tax interaction protein 40 protein-coding 1317848 PARD6B par-6 partitioning defective 6 homolog beta (C. elegans) This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq] 1580863 14676191,12545177,19401335,15677324,15489334,12725730,12477932,12459187,12234671,11780052,11260256,10934474,11162552,15101818,18029348,17207965,20936779 84612 NM_032521,AL031680,CH471077,AB044555,AB178534,BC060847,CA435324 NP_115910,CAB44747,EAW75615,EAW75616,EAW75617,BAB40756,BAF92013,AAH60847,Q9BYG5,ADQ33003 Hs.589848 PAR6B PAR-6 beta|partitioning defective 6 homolog beta protein-coding 1312794 PARD6G par-6 partitioning defective 6 homolog gamma (C. elegans) 1580863 11260256,15489334,14702039,12477932,12459187,11257119,10934474,14676191,20379614 84552 NM_032510,AC139100,CH471117,AA502508,AB043635,AB044556,AB178535,AB178536,AK128802,BC060797 NP_115899,EAW66649,BAA96236,BAB40757,BAF92014,BAF92015,AAH60797,Q9BYG4,Q9NS63 Hs.654920 FLJ45701|PAR-6G|PAR6gamma PAR-6 gamma protein|PAR6D|partitioning defective 6 homolog gamma protein-coding 1351666 PARG poly (ADP-ribose) glycohydrolase Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. [provided by RefSeq] 2316738,2316742 19076642,19389396,19571039,19812418,15450800,9925755,19454480,18636124,18407589,17548475,17509564,16963444,16526943,16117724,15868399,15489334,15302935,15212953,9115250,8428996,18029348,15081900,14622405,14527731,12878198,12477932,11053413,10449915 2316738,2316742 8505 AF085828,AK295244,AK301845,NM_003631,AC069546,AL450342,AL672187,AL731572,AY258588,CH471187,AF005043,AK295786,AK302560,AY258587,AY575848,AY575849,BC012005,BC050560,BC052966,CR619290,DQ867088,EF382674 BAG58236,BAG63288,NP_003622,CAI15133,CAI15135,AAP83316,EAW93079,AAB61614,BAG58607,BAG63826,AAP83314,AAT66421,AAT66422,AAH50560,AAH52966,ABH85399,ABR10027,Q0MQR4,Q5SQP4,Q5SQP5,Q6X2S8,Q86W56 Hs.620085,Hs.535298 FLJ54459|FLJ60257|FLJ60456|PARG99 OTTHUMP00000019589|poly(ADP-ribose) glycohydrolase|poly(ADP-ribose) glycohydrolase 60 kDa isoform protein-coding 1347705 PARK10 Parkinson disease 10 12402251 170534 1347455 PARK11 Parkinson disease (autosomal recessive, early onset) 11 12638082 352908 730938 PARK2 Parkinson disease (autosomal recessive, juvenile) 2, parkin The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq] 1302872,737763,1300048,1580863 19863651,14645198,16096643,17327227,18644660,19038850,19060904,19351622,19377297,19483198,19526454,19585504,19610108,19615059,19617340,19617636,19628420,19636047,19663908,19672985,19679562,19692353,19715670,19716418,19723394,19726410,19734163,19741132,19801972,19822161,19875440,19880420,19909784,19946270,20031566,20034704,20043906,20098416,20146068,20153330,20171192,20182943,20188730,20379614,20399249,20404107,20424582,20483373,20686608,16500134,16476817,16455660,16449237,16391553,16367892,16344560,16339143,16332688,16287063,16269266,16244875,16227987,16227559,16215938,16189514,16157901,16130151,16086186,16049031,16019250,15987638,15970950,15963499,15896322,15894486,15862897,15823482,15781988,15737990,15728840,15718234,15717024,15642853,15606901,15584030,15557340,15492001,15489334,15455441,15453267,15326242,15315343,15300670,15266615,15261877,15252205,15229644,15198987,15192821,15132984,15108293,15105460,15102676,15101042,15090075,15078880,14991825,14987449,14976155,14737177,14727181,14678753,14639672,14614460,14574404,14559152,14532270,14519684,12975291,12973932,12972428,12972409,12925569,12891670,12815654,12784265,12783850,12781599,12764050,12730996,12719539,12716939,12707457,12692130,12691660,12673578,12670421,12634850,12629236,12628165,12584415,12548343,12548339,12477932,12397156,12374768,12362318,12270650,12165399,12150907,12138708,12116199,12114481,12112109,12044248,12034719,12000718,11971093,11889248,11839750,11679592,11588587,11527378,11487568,11468333,11439185,11431533,11405814,11402119,11278816,11248588,11241385,11215568,11179010,11163284,11078524,11009195,10973942,10965160,10939576,10888878,20547844,20800584,20854080,18554280,18519826,18519021,18514563,18486522,18464276,18413468,18387843,18378882,18362144,18335262,18331811,18248624,18248610,18211709,18195004,18188499,18068301,18022644,18004887,18003639,17989306,17976945,17935510,17934880,17873367,17766365,17724286,17722288,17687034,17680541,17512523,17467279,17465879,17415800,17400506,17353387,17335904,17329252,17324265,17314283,17285542,17280783,17267552,17187375,17068781,17017530,16955485,16914382,16905117,16840513,16837855,16826604,16819513,16793319,16769863,16734611,16643317,16637659,16636914,16606767,16517073,16511856,16502212,11590439,12364339,16352719,17097639,9560156,19491146,19475582,19473361,19405094,19358826,19339245,19330201,19279012,19229105,19228951,19224617,19205068,19167501,19162522,19146857,19087301,19067348,19050041,19043545,19036992,19029340,19006224,18987353,18973255,18973254,18957282,18951541,18942080,18936941,18927607,18845538,18785233,18759365,18704525,18561034,18560894,10824074,10791092,10511432,10319893,10214987,10072423,9802278,9731209,9634531,9570960,9042918,9014427,17883392,17682061,18541373,18671761,16169070,15603737,20558392,19913121,20571283,20628086,20629119,20450912,20506312,20573959,20876472,15525661,15944382,20889974,20630868,20696900,20810900,17207965,20842103,16135753,16714300,16862145,19297328,20508036,20823226 1302872,737763 5071 GU345837,GU345838,GU345839,GU345840,GU357501,GU357502,GU361466,GU361467,GU361468,GU361469,GU361470,NM_013988,NM_013987,NM_004562,NG_008289,AL008631,AL035697,AL078583,AL132982,AL138716,AL445215,AP000886,AP000887,AP000888,AP001576,AP001577,AP001578,AP002091,AP003699,AY463003,AY564223,AY564224,AY564225,AY745246,AY745247,CH471051,AB009973,AB245403,AF381282,AF381283,AF381284,AF381286,AK294684,BC022014,DB023187,EF375726,AK292590 ADB90269,ADB90270,ADB90271,ADB91978,ADB91979,ADB91980,ADB91981,NP_054643,NP_054642,NP_004553,CAI21384,AAR27057,AAS88420,AAS88421,AAS88422,AAU93631,AAU93632,EAW47571,EAW47572,EAW47573,EAW47574,BAA25751,BAF43729,AAM21457,AAM21458,AAM21459,AAM21461,BAF85279,BAG57845,AAH22014,ABN46990,O60260,Q5VVX1,Q5VVX3,Q5VVX4,Q5XNR7,Q5XNR8,Q6Q2I7,Q6Q2I8,Q6S8G7,Q8NI42,ADQ31803 Hs.132954 AR-JP|LPRS2|PDJ|PRKN E3 ubiquitin ligase|E3 ubiquitin-protein ligase parkin|OTTHUMP00000017562|OTTHUMP00000017563|OTTHUMP00000017564|Parkinson disease (autosomal recessive, juvenile) 2, parkin|parkin 2|parkinson disease protein 2|parkinson juvenile disease protein 2 protein-coding 1346150 PARK3 Parkinson disease (autosomal dominant, Lewy body) 3 9500549 5072 1349392 PARK4 Parkinson disease (autosomal dominant, Lewy body) 4 9887334,10867800 60454 1354265 PARK6 Parkinson disease (autosomal recessive) 6 11254447 113879 1344212 PARK7 Parkinson disease (autosomal recessive, early onset) 7 The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1601073,1601076,1580863 14607841,14598065,14579415,14557580,12953260,12939276,12914946,12855764,12851414,12815653,12796482,12761214,12612053,12548343,12526767,12477932,11477070,11462174,11223268,20395301,15525661,17207965,20877624,20127688,20213747,15983381,17510388,9070310,12446870,19429112,19425177,19405094,19371728,19229105,19224617,19144925,19124468,19064576,19023331,19014922,19006224,18974921,18973254,18922803,18841573,18817430,18785233,18722801,18722352,18707128,18706098,18704525,18689799,18647263,18632777,18626009,18586035,18570440,18556627,18486522,18436956,18430896,18382667,18181649,18162323,18045143,17949781,17882163,17846173,17671684,17599367,17504761,17487420,17451229,17120294,17085780,17034344,17017532,17015834,16781058,16731528,16710414,16707095,16632486,16570276,16517609,16403519,16331561,16316629,16240358,16227205,16157901,15976810,15970950,15944198,15935068,15790595,15766664,15717024,15703819,15592455,15542239,15503154,15502874,15489334,15372597,15365989,15342556,15308309,15304593,15254937,15219840,15181200,15108293,15018843,14985393,14872018,14718574,14713311,14712351,14705128,14705119,14702039,14662519,14652021,14638971,20506312,20510502,20014998,14625045,17540176,18029348,18822273,19384955,19615732,19680261,19686841,19692353,19703902,19716892,19733211,19822128,19825160,19968671,20061558,20146068,20150646,20156966,20190752,18331584,20730377,20842103,20406884,20186336,20540987,20634198,20639397,20938049,19335984,20736773 1601073,1601076 11315 NM_007262,NM_001123377,NG_008271,AL034417,AY648999,CH471130,AB073864,AF021819,AK091679,AK130886,AK312000,BC008188,BP248330,CR591123,CR616157,CR618546,CR619796,CR623768,CR623919,D61380 NP_009193,NP_001116849,CAB52550,AAT68961,EAW71591,BAB71782,AAC12806,BAG34938,AAH08188,BAA09603,Q99497,ADQ32403 Hs.419640 DJ-1|DJ1|FLJ27376|FLJ34360|FLJ92274 Parkinson disease protein 7|oncogene DJ1|protein DJ-1 protein-coding 1345890 PARK8 Parkinson disease (autosomal dominant) 8 1350813 PARK9 Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome) 11584046 140600 1314669 PARL presenilin associated, rhomboid-like This gene encodes a mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 19185381,18758826,17116872,17019603,15729572,15489334,14732705,20407791,12774122,12477932,12214059,18029348,19680265,19754948,19862556,20711738,16712791,20877624 55486 NM_001037639,NM_018622,AC068644,AC131160,CH471052,AF116692,AF197937,AK024765,BC003653,BC014058,CA417847,CB122278,HB868308,HB889245,HC925717,HC946654 NP_001032728,NP_061092,EAW78311,EAW78312,AAF71112,AAG28519,AAH03653,AAH14058,Q9H300,ABM84368,ABM87748,CBF58133,CBF68759,CBU83568,CBU93633 Hs.478469 PRO2207|PSARL|PSARL1|PSENIP2|RHBDS1 OTTHUMP00000210937|OTTHUMP00000210938|mitochondrial intramembrane cleaving protease PARL|mitochondrial intramembrane-cleaving protease PARL|presenilins-associated rhomboid-like protein, mitochondrial|rhomboid 7 homolog 1 protein-coding 1348471 PARN poly(A)-specific ribonuclease (deadenylation nuclease) The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9736620,15231747,19103158,18694759,17391638,17081983,16964243,16601207,16317009,16281054,15635413,15489334,15358788,15175153,14702039,14527413,12748283,12477932,12429849,11790298,11742007,11719186,11424938,11359775,11230136,10882133,10801819,10698948,10640832,9099687,18029348,19901024,20379614 5073 NM_002582,NM_001134477,AC009167,AC092291,CH471112,AJ005698,AK023866,AK293189,AK299653,AK301648,AK303348,AK315020,AW338742,BC044763,BC050029 NP_002573,NP_001127949,EAW85110,EAW85111,CAA06683,BAG51231,BAG56729,BAG61572,BAG63126,BAG64410,BAG37510,AAH50029,O95453 Hs.253197 DAN deadenylating nuclease|deadenylation nuclease|poly(A)-specific ribonuclease PARN|polyadenylate-specific ribonuclease protein-coding 1345118 PARP1 poly (ADP-ribose) polymerase 1 This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq] 1601091,1601085,1580863,1601087 20473728,18922045,18945670,19622798,19759913,19762472,20211142,20731661,20817730,20837404,21037106,20493163,20218899,20388712,20514865,20603072,20629644,20832725,16449973,16522924,16543152,16682447,16794079,20573551,20875401,2513174,16107709,14734561,10958667,10944198,9518481,19604089,19568233,19536092,19484672,19369898,19368128,19344625,19281796,19221898,19181665,19147860,19144573,19139632,19124499,19116388,19109787,19103807,19087198,19074885,19064572,19060926,19056730,19030862,19029194,19012493,18996291,18990703,18954712,18779313,18773488,18768662,18752052,18716896,18676680,18676402,18676401,18663363,18636124,18619636,18599483,18506195,18483312,18452307,18445785,18439038,18376143,18357393,18347181,18339380,18338862,18330920,18314489,18312852,18258916,18230337,18164959,18078995,18073140,18055453,18054777,18054108,18025084,18006925,17975135,17943227,17908769,17900801,17889105,17884996,17785446,17703177,17616514,17596754,17560163,17548475,17540609,17529993,17518695,17459151,17428792,17413981,17385326,17362997,17360427,17314023,17295209,17290104,17283177,17225870,17220334,17203305,17187679,17172468,17158748,17148781,17088946,16920718,16904257,16890595,16889694,16628003,16627622,16621887,16620772,16492928,16461442,16412052,16405741,16386505,16364363,16344560,16328064,16323285,16306129,16284386,16262266,16212410,16207712,16179389,16123586,16115861,16026592,16002043,15940627,15895395,15866623,19513550,15826658,15821886,15819892,15808511,15777284,12592385,12528821,12519782,12496481,12477932,12217960,12117981,12011073,11956622,11941587,11846007,11790116,11781832,11756665,11591122,11590148,11536009,11509621,11443112,11258948,11248244,11248084,11070027,10964595,10799874,10744766,10471503,10467406,10405328,10082530,10077636,9642267,9586635,9584196,9565608,9563011,9537509,9398855,9373149,9315851,8804412,8491200,8125298,7642516,6293541,3121332,3120710,3113420,3103132,3029772,2891139,2824474,2498872,2434482,2125269,2123876,2121735,2109322,2108670,1505517,1424803,15103018,9548463,15498776,16429131,15781132,12404116,15650754,15767427,11123279,18206965,11948190,15774926,15750180,15743888,15737996,15731342,15729291,15705867,15703174,15672325,15640154,15635413,15607977,15572421,15564335,15555565,15536154,15498778,15489954,15489334,15375506,15374823,15342424,15331727,15304054,15292449,15286704,15280503,15257133,15247263,15205355,15133513,15110646,15044383,15019581,14759373,14754756,14715657,14702039,14699148,14642390,14623329,14612404,14596914,14585985,14559993,14557488,14500814,12960163,12930846,12898523,12853070,12714254,12704785,12674511,12673357,12668662,12642583,12640039,12632415,12606781,16407974,15100233,15580265,15205535,8226768,15186778,20399804,12897160,14627987,16490787,17283121,17396150,17562258,17643375,18172500,18279607,18587655,18695944,19170196,19247804,19303849,19372636,19447888,19506301,19515826,19529948,19544333,19553815,19557639,19585117,19607827,19615732,19625176,19636556,19643912,19655414,19661379,19666485,19680243,19684606,19692168,19703477,19710015,19711368,19723035,19779455,19784367,19784808,19789190,19809895,19812418,19863315,19877712,19897724,19916945,19925161,19961617,19962992,19996272,20016407,20025963,20060806,20064938,20068062,20072652,20085707,20113831,20145242,20150366,20177052,20181890,20196871,20219917,20223788,20232390,20353610,20373286,20453000,20486200,20495366,20522537,20587588,20876582,21095583,19913121,20544540,20559012,20574454,20628086,20644561,20665026,20550106,20564216,20940411,17214964,20124459,20493910,20561897,20562859,20652015 1601091,1601085,1601087 142 NM_001618,AF524947,AL359704,AL359742,CH471098,M29786,M60436,X16674,X56140,AF401218,AK125650,AK225654,AK303340,AK312339,BC008660,BC014206,BC018620,BC021045,BC037545,CR604398,CR610406,DB097441,J03473,M17081,M18112,M32721,HD117904 NP_001609,AAM75364,CAH70215,CAH70216,CAH70217,CAI12102,EAW69783,EAW69784,EAW69785,AAA51663,AAA60000,CAA34663,CAA39606,AAL02174,BAG64403,BAG35260,AAH14206,AAH18620,AAH37545,AAB59447,AAA51599,AAA60137,AAA60155,P09874,Q05D33,Q6PJL0,Q96P95,ABM82562,ABM85752,CBX74363 Hs.177766 ADPRT|ADPRT 1|ADPRT1|PARP|PARP-1|PPOL|pADPRT-1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)|ADP-ribosyltransferase NAD(+)|NAD(+) ADP-ribosyltransferase 1|poly (ADP-ribose) polymerase family, member 1|poly [ADP-ribose] polymerase 1|poly(ADP-ribose) polymerase|poly(ADP-ribose) synthetase|poly(ADP-ribosyl)transferase|poly[ADP-ribose] synthase 1 2299934,2299935 PRSTS333_H,PRSTS334_H protein-coding 1348193 PARP10 poly (ADP-ribose) polymerase family, member 10 Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM] 18029348,18851833,16455663,16344560,15674325,15489334,15273990,14702039,12477932,9373149,8125298 84875 NM_032789,AC109322,CH471162,AI470346,AK027370,AK075250,AK124017,AK128537,AK129821,AK222914,AK303317,AK308657,AK309251,BC014229,BC019030,BC020378,BC030549,BC035485,BC132961,BC136542,BC144235,DA124793 NP_116178,EAW82169,BAB55067,BAC11498,BAG54691,BAD96634,BAG64386,AAH14229,AAH19030,AAI32962,AAI36543,Q53GL7,Q96K72 Hs.348609 FLJ14464 PARP-10|poly [ADP-ribose] polymerase 10 protein-coding 1344916 PARP11 poly (ADP-ribose) polymerase family, member 11 1580863 17353931,16541075,16189514,15489334,15273990,14702039,12477932,8889548,17207965,19615732,20379614 57097 NM_020367,AC005842,AC006207,CH471116,AF263540,AK096373,AK299372,AK314916,BC017569,BC031073,BX640960,BX647487,CR749294 NP_065100,EAW88852,EAW88853,EAW88854,EAW88855,EAW88856,AAF91391,BAG61362,AAH17569,AAH31073,CAE45979,CAH18149,Q6MZP9,Q9NR21,ADQ33190 Hs.657268 C12orf6|DKFZp779H0122 MIB006|OTTHUMP00000209902|PARP-11|poly [ADP-ribose] polymerase 11 protein-coding 1318511 PARP12 poly (ADP-ribose) polymerase family, member 12 1580863 15489334,14702039,12853948,12851707,12477932,11230166,9847074,19729601,12690205 64761 NM_022750,AC004849,AC004961,AC025816,CH236950,CH471070,AF173884,AK026346,AL136766,AL137255,BC044660,BC081541,CR602813,CR617533 NP_073587,AAF66161,EAL24033,EAW83938,EAW83939,AAQ13631,BAB15457,CAB66700,CAB70657,AAH81541,Q7Z2T1,Q9H0J9 Hs.12646 FLJ22693|MST109|MSTP109|ZC3H1|ZC3HDC1 poly [ADP-ribose] polymerase 12|zinc finger CCCH domain-containing protein 1|zinc finger CCCH type domain containing 1 protein-coding 1344897 PARP14 poly (ADP-ribose) polymerase family, member 14 Poly(ADP-ribosyl)ation is an immediate DNA damage-dependent posttranslational modification of histones and other nuclear proteins that contributes to the survival of injured proliferating cells. PARP14 belongs to the superfamily of enzymes that perform this modification (Ame et al., 2004 [PubMed 15273990]).[supplied by OMIM] 17875708,18029348,17478423,16344560,16061477,15273990,14702039,12477932,10574462 54625 DQ063584,AC048348,AC092908,CH471052,AA890511,AB033094,AK001770,AK022542,AK026003,AK027260,AK098816,AK304269,AU117601,AY134858,BC032804,BC039604,BU170133,BX648758,CR977108,DC320673,NM_017554,DQ063585 NP_060024,EAW79467,EAW79468,EAW79469,EAW79470,BAA86582,BAA91897,BAB14089,BAG65132,AAN08627,AAH32804,AAY64449,AAY64450,Q460N5,Q8N546,AAI72392 Hs.518203 BAL2|KIAA1268|pART8 B-aggressive lymphoma 2|OTTHUMP00000215804|PARP-14|b aggressive lymphoma protein 2|collaborator of STAT6|poly [ADP-ribose] polymerase 14 protein-coding 1353381 PARP15 poly (ADP-ribose) polymerase family, member 15 PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM] 1580863 16344560,16061477,15489334,15273990,14702039,12477932,19913121,20628086 165631 NM_152615,NM_001113523,AC092908,CH471052,AK097515,AK097916,BC101701,BC101703,BC143573,BX647656,DB158535,DQ063586 NP_689828,NP_001106995,EAW79473,EAW79474,EAW79475,BAG53481,BAC05197,AAI01702,AAI01704,AAI43574,AAY64451,Q460N3 Hs.120250 BAL3|FLJ40196|FLJ40597|MGC126750|MGC126752|pART7 B-aggressive lymphoma 3|B-aggressive lymphoma protein 3|OTTHUMP00000215684|OTTHUMP00000215801|OTTHUMP00000215802|PARP-15|poly [ADP-ribose] polymerase 15 protein-coding 1350046 PARP16 poly (ADP-ribose) polymerase family, member 16 12477932,15489334,15273990,14702039 54956 BC006389,BC031074,CR618260,NM_017851,AC068213,CH471082,AK000516,AK058010 AAH06389,AAH31074,Q8N5Y8,NP_060321,EAW77718,EAW77719,EAW77720,EAW77721,BAA91222 Hs.30634 C15orf30|FLJ20509|FLJ25281|pART15 PARP-16|poly [ADP-ribose] polymerase 16 protein-coding 1351589 PARP1P1 poly (ADP-ribose) polymerase family, member 1 pseudogene 1 2891139 144 NG_002655,AL442128 ADPRTP1|PPOLP1 pseudo 1606844 PARP1P2 poly (ADP-ribose) polymerase family, member 1 pseudogene 2 2891139 145 NG_002656,AL137191 ADPRTP2|PPOLP2 pseudo 1602134 PARP2 poly (ADP-ribose) polymerase 2 This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq] 15615785,7260241,19064572,18676401,18644123,18353725,18339380,17518695,16461352,16344560,14702039,14699148,11948190,10644454,10364231,10338144,10329013,12217960,12065591,18587655,19806447,20092359,20522537,19913121,20628086 10038 NM_005484,NM_001042618,AF479321,AL355075,AX008892,CH471078,AF085734,AJ236876,AJ236912,AK001980,AK290079,AK300971,BU541261,CR615442,DA354586 Q9UGN5,AAI72288,NP_005475,NP_001036083,AAL77437,CAC07442,EAW66476,EAW66477,EAW66478,AAD29857,CAB41505,CAB65088,BAA92017,BAF82768,BAG62594 Hs.409412 ADPRT2|ADPRTL2|ADPRTL3|PARP-2|pADPRT-2 ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2|ADPRT-2|NAD(+) ADP-ribosyltransferase 2|hPARP-2|poly (ADP-ribose) polymerase family, member 2|poly (ADP-ribosyl) transferase-like 2|poly [ADP-ribose] polymerase 2|poly(ADP-ribose) synthetase|poly[ADP-ribose] synthase 2|poly[ADP-ribose] synthetase 2 protein-coding 1604647 PARP3 poly (ADP-ribose) polymerase family, member 3 The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 12477932,12107410,10737800,10329013,17353931,7260241,10338144,17203305,16924674,15489334,12640039,19692168,20064938,19913121,20628086 10039 NM_005485,NM_001003931,AC115284,AX008894,AX008896,CH471055,AB208803,AF083068,AI088919,AL050034,AY126341,BC014260,BF375394,BG818516,BU632340,CA394313,Y16836 NP_005476,NP_001003931,CAC07443,CAC07444,EAW65160,EAW65161,EAW65162,EAW65163,BAD92040,AAD29855,CAB43246,AAM95460,AAH14260,CAC79988,Q59HF6,Q9Y6F1 Hs.271742 ADPRT3|ADPRTL2|ADPRTL3|IRT1|PADPRT-3 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 2|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3|ADPRT-3|NAD(+) ADP-ribosyltransferase 3|NAD+ ADP-ribosyltransferase 3|poly [ADP-ribose] polymerase 3|poly(ADP-ribose) synthetase-3|poly[ADP-ribose] synthase 3|poly[ADP-ribose] synthetase 3 protein-coding 1606845 PARP4 poly (ADP-ribose) polymerase family, member 4 This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq] 18029348,10100603,10644454,15169895,12101391,12140175,12123754,10477748,11291045,11855821,11479319,18676680,17203305,16344560,15057823,12829019,12477932,10551828,8724849,7937745,15781132,12404116,19170196,19536092,19625176,19692168,20379614 143 NM_006437,AL359763,CH471075,AF057160,AF158255,AK304399,BC017815,BX479127,CA308288,CV574448,D79999,DB238428 NP_006428,CAI12394,EAX08336,AAC62491,AAD47250,BAG65234,AAH17815,BAA11494,Q5QNZ9,Q9UKK3,AAI67791 Hs.725988 ADPRTL1|PARP-4|PARPL|PH5P|VAULT3|VPARP|VWA5C|p193 193 kDa vault protein|ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1|H5 proline-rich|I-alpha-I-related|PARP-related|PARP-related/IalphaI-related H5/proline-rich|poly [ADP-ribose] polymerase 4|poly(ADP-ribose) synthetase|poly(ADP-ribosyl)transferase-like 1|vault poly(ADP-ribose) polymerase|vault protein, 193-kDa|von Willebrand factor A domain containing 5C protein-coding 1353563 PARP4P poly (ADP-ribose) polymerase family, member 4 pseudogene 12815422 347613 NG_002802,AC019099 ADPRTL1P|PARP4P|PARP4PY1 pseudo 3207651 PARP4P2 poly (ADP-ribose) polymerase family, member 4 pseudogene 2 645771 AL356259,NG_011399 KIAA1074 pseudo 1344996 PARP6 poly (ADP-ribose) polymerase family, member 6 20379614,16344560,15489334,15273990,14702039,12477932 56965 AC009690,CH471082,AK021790,AK022547,AK024703,AK091172,AK126416,AL122091,AL390087,AL390093,BC015176,BC015314,BC026955,BC110902,NM_020214,BC119688,BC119689,CR593713,DB121441 NP_064599,EAW77891,EAW77892,EAW77893,EAW77894,EAW77895,EAW77896,EAW77897,EAW77898,EAW77899,BAB13896,BAB14092,BAB14969,BAG54325,CAB59261,CAB98210,CAB98250,AAH15314,AAI10903,AAI19689,AAI19690,Q0VDG0,Q2NL67,Q9NPQ9 Hs.270244 MGC131971|pART17 PARP-6|poly [ADP-ribose] polymerase 6 protein-coding 1350347 PARP8 poly (ADP-ribose) polymerase family, member 8 1580863 11256614,16381901,15489336,15489334,15273990,14702039,12477932,11230166,11076863,9373149,8125298 79668 NM_024615,AC008919,AC022441,AC112187,CH471123,AK024961,AK225188,AK289369,AK298680,AK314466,AL834477,BC037386,BC075801,BC105789,DC417471,DC429180,NM_001178055,NM_001178056 NP_078891,EAW54857,EAW54858,EAW54859,BAB15044,BAF82058,BAG60843,BAG37074,CAD39136,AAH37386,AAH75801,AAI05790,Q49AI7,Q8N3A8,CAL37882,NP_001171526,NP_001171527 Hs.369581 FLJ21308|MGC42864|pART16 OTTHUMP00000221823|OTTHUMP00000221824|OTTHUMP00000221827|poly [ADP-ribose] polymerase 8 protein-coding 1347584 PARP9 poly (ADP-ribose) polymerase family, member 9 737633 11110709,18339380,16809771,16344560,15489334,15342556,14702039,12670957,12477932,8889548,15902274 737633 83666 NM_001146102,NM_001146103,NM_001146104,NM_001146105,NM_001146106,AC092908,AC096861,CH471052,AB209742,AF307338,AF307339,NM_031458,AK092629,AK123412,AK125581,AK130147,AK292959,AK299107,AK313494,AL713679,AL832929,BC017463,BC039580,BP259272,BU675792,BX648869,CR596753,CR599565,DB096326,DC309545,DC368112 NP_113646,NP_001139574,NP_001139575,NP_001139576,NP_001139577,NP_001139578,EAW79477,EAW79478,EAW79479,BAD92979,AAK07558,BAF85648,BAG36276,CAD28483,CAH56290,AAH39580,CAH56133,Q59ER9,Q63HJ7,Q658Y0,Q8IXQ6,AAK07559,BAH12952 Hs.518200 BAL|BAL1|DKFZp666B0810|DKFZp686M15238|FLJ26637|FLJ35310|FLJ41418|FLJ43593|MGC:7868 OTTHUMP00000215679|OTTHUMP00000215680|OTTHUMP00000215681|OTTHUMP00000215682|PARP-9|b aggressive lymphoma protein|poly (ADP-ribose) polymerase 9|poly [ADP-ribose] polymerase 9 protein-coding 1603670 PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative) 17207965,20877624,16710414,15779907,15489334,14702039,12477932,16344560,20562859 25973 NM_152268,AL139244,CH471059,AK025585,AK289679,AL117473,BC007956,BC011758,CR603986,DB004072 ADQ32706,NP_689481,CAI18996,EAX06669,BAB15178,BAF82368,CAB55948,AAH07956,AAH11758,Q7L3T8 Hs.380169 DKFZp727A071|MGC14416|MGC19467|MT-PRORS proRS|probable prolyl-tRNA synthetase, mitochondrial|proline tRNA ligase 2, mitochondrial (putative)|proline--tRNA ligase|prolyl-tRNA synthetase (mitochondrial)(putative)|prolyl-tRNA synthetase, mitochondrial (putative) protein-coding 2302586 PART1 prostate androgen-regulated transcript 1 This gene is induced by androgen in prostate adenocarcinoma cells. Transcript variants utilizing alternative polyadenylation signals have been described in the literature. [provided by RefSeq] 15489334,14702039,12477932,10706094,8619474,9110174 25859 AK094518,AK312071,AL050198,BC069304,BC096696,BC096727,BC098111,NR_024617,AC008818,AC016591,AC109486,AF163474,AF163475,AF070547,BQ898163,NR_028508,NR_028509 BAG35007,AAF62861,AAF62862 Hs.146312,Hs.720759 DKFZp586D0823|NCRNA00206 miscrna 1352322 PARVA parvin, alpha Members of the parvin family, including PARVA, are actin-binding proteins associated with focal contacts.[supplied by OMIM] 2300344,1580863 15489334,15353548,15284246,15242332,14702039,12477932,12432066,11722847,11694518,11331308,11171322,11134073,16189514,17353931,18940607,18508764,15817463,12654898,12960424,14551191,16314921,16860736,18722108,18952167,19633364,20005845,20717960,17207965,18029348,20400778 2300344 55742 AK057835,AK128814,DC344538,NM_018222,AC009806,AC025300,CH471064,AF237771,AF325830,AK001655,AK022316,AK098504,AK304444,BC014535,BC016713,CR590611,CR599976,CR612241,CR612774,CR620102,CR624090 NP_060692,EAW68523,EAW68524,EAW68525,AAG27173,AAK49911,BAA91815,BAB14009,BAH14188,AAH14535,AAH16713,Q9NVD7,ACE87003,ADQ32692 Hs.432914,Hs.607144 CH-ILKBP|FLJ10793|FLJ12254|FLJ25106|FLJ46049|MXRA2 CH-ILKBP|actopaxin|alpha-parvin|calponin-like integrin-linked kinase-binding protein|matrix-remodeling-associated protein 2|matrix-remodelling associated 2 protein-coding 1322969 PARVB parvin, beta Members of the parvin family, including PARVB, are actin-binding proteins associated with focal contacts.[supplied by OMIM] 2300344,1580863 17353931,18325335,17998334,15835269,15489334,15467740,15284246,15159419,15005707,12529303,12499396,12477932,12372433,11722847,11402068,11171322,10810093,10591208,20736946,20164304,20379614,20345489 2300344 29780 NM_013327,NM_001003828,AL031595,AL033543,AL035398,CH471138,Z82174,Z82178,AB048276,AF151814,AF237769,AF303887,AK308443,AK313957,AL159142,BC039811,BC017461,BC046103,BG743702,CB044150,CR597010,CR604955,CR606501,CR610431,CR619856,CR620083,CR620643,CR621262,CR622038,CR622750,CR626839 NP_001003828,NP_037459,CAI22312,CAI17969,EAW73328,EAW73329,EAW73330,EAW73331,CAQ08662,CAI18767,BAB62077,AAD34051,AAG27171,AAL08219,BAG36673,CAB76900,AAH46103,Q96PN1,Q9HBI1 Hs.475074 CGI-56 OTTHUMP00000198197|affixin|beta-parvin protein-coding 1322037 PARVG parvin, gamma Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM] 2300344,1580863 11171322,16517730,16344560,15993274,15489334,15461802,15342556,12529303,12477932,11722847,10591208,9373149,8125298 2300344 64098 NM_001137605,NR_024427,NM_022141,NR_024426,NR_024428,NM_001137606,AL031595,CH471138,AF237772,AK225929,AK293360,AK307294,AK307299,AK309348,AK310087,AL355092,AL590887,BC034406,BI818662,BP299653,BP299720,BX648942,CA440742,CR456480,CR607020,CR619524,CR620482,DA673498,DA946316 NP_001131077,NP_071424,NP_001131078,CAI22314,EAW73332,EAW73333,EAW73334,EAW73335,EAW73336,AAG27174,BAG56876,CAB90188,CAC37414,AAH34406,CAG30366,Q9HBI0,CAK54461,CAK54760 Hs.658995 gamma-parvin protein-coding 1346433 PASD1 PAS domain containing 1 1580863 18029348,16381901,16344560,16112646,15489336,15162151,15122589,14702039,12477932,11256614,11076863,17024112,17114574,19552722,19886887,20861911 139135 NM_173493,AF274854,BX546454,CH471169,AK097552,AY270020,AY623425,BC040301,DB095017,DB523527,NG_021218 NP_775764,EAW99406,BAC05097,AAQ01136,AAT49049,AAH40301,Q8IV76,CAL37909 Hs.160594 CT63|OXTES1 PAS domain-containing protein 1|cancer/testis antigen 63 protein-coding 1314594 PASK PAS domain containing serine/threonine kinase PAS domains regulate the function of many intracellular signaling pathways in response to both extrinsic and intrinsic stimuli. PASK is an evolutionarily conserved protein present in yeast, flies, and mammals.[supplied by OMIM] 1580863 17353931,17595531,15489334,15302935,15148392,14702039,12477932,12377121,12168954,11688972,11459942,10231361,9110174,8619474,8590280,18029348,20943661 23178 AC005237,AF067137,CH471063,AF387103,AK026769,AK056516,AL117400,BC020054,BC043495,BC050565,BC063585,NM_015148,CR749231,D50925,U79240,AK296945,AK302417,AK302561 NP_055963,AAC23506,EAW71236,EAW71237,EAW71238,EAW71239,EAW71240,EAW71241,EAW71242,AAK69752,CAB55901,AAH43495,AAH50565,AAH63585,CAH18087,BAA09484,AAB50198,Q05BE4,Q14148,Q96RG2,BAH12460,BAH13702,BAH13743 Hs.397891 DKFZp434O051|DKFZp686P2031|KIAA0135|PASKIN|STK37 PAS domain-containing serine/threonine-protein kinase|PAS-kinase|PAS-serine/threonine kinase|hPASK protein-coding 1606693 PATE1 prostate and testis expressed 1 18387948,15798027,12477932,11880645 160065 AF462605,NM_138294,AP003087,CH471065,BC039863,BC107044 NP_612151,EAW67660,EAW67661,EAW67662,AAH39863,AAL68667,AAI07045,Q8WXA2 Hs.148565 MGC129554|PATE expressed in prostate and testis|prostate and testis expressed protein 1 protein-coding 1602157 PATE2 prostate and testis expressed 2 18387948,12975309,12477932 399967 NM_212555,AP003087,CH471065,AY358105,BC137190,BC137193,BC144526 NP_997720,EAW67663,AAQ88472,AAI37191,AAI37194,AAI44527,Q6UY27 Hs.369185 C11orf38|PATE-M|UNQ3112 LVLF3112|PATE-like protein M|prostate and testis expressed protein 2|prostate and testis expression M protein-coding 2302531 PATE3 prostate and testis expressed 3 18390568,18387948,11181995 100169851 NM_001129883,AP003087,CH471065,EF426753,EU703625 NP_001123355,EAW67664,ABR09862,ACD81924,B3GLJ2 Hs.131278 HEL-127|PATE-DJ PATE-like protein DJ|acrosomal vesicle protein HEL-127|prostate and testis expressed protein 3|secreted TFP/Ly-6/uPAR protein PATE-DJ protein-coding 2302529 PATE4 prostate and testis expressed 4 18390568,18387948,14702039 399968 NM_001144874,AP000842,AP003087,AI674374,AK123042,AK311509,AW296313 NP_001138346,P0C8F1 Hs.436215 FLJ41047|PATE-B PATE-like protein B|prostate and testis expressed protein 4|prostate and testis expression B protein-coding 1606423 PATL1 protein associated with topoisomerase II homolog 1 (yeast) 20584987,17936923,16381901,15489336,15302935,14702039,12477932,11230166,11076863,20543818,20826699 219988 NM_152716,AP000442,CH471076,AB065087,AK094193,AK127649,AK127943,AK293213,AL831992,BC023255,BC048309,BC065264,BC109038,BC109039,BC111047,CR610274,DC409866,AP000640 NP_689929,EAW73850,EAW73851,BAB93524,BAC04305,BAG54542,BAG54601,BAH11469,CAD89916,AAH65264,AAI09039,AAI09040,AAI11048,Q86TB9,CAL37837 Hs.591960 FLJ36874|MGC125671|MGC125672 PAT1-like protein 1|protein PAT1 homolog 1 protein-coding 2303478 PATL2 protein associated with topoisomerase II homolog 2 (yeast) 17936923,12477932 197135 NM_001145112,AC009996,AC025270,AW138454,BC036924,BI835136,BI909158,DN831868,DR007980 NP_001138584 Hs.11594 protein associated with topoisomerase II homolog 2 protein-coding 1318048 PATZ1 POZ (BTB) and AT hook containing zinc finger 1 The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq] 1580863 20677143,10949935,10713105,18401526,18241078,15489334,15461802,14702039,12477932,11751862,11744704,11719514,10669750,10591208,9847074,20026299 23598 NM_032050,NM_014323,NM_032052,NM_032051,AC005003,CH471095,AB208787,AF119256,AF242522,AF254082,AF254083,AF254084,AF254085,AK123441,AK291803,AL096880,AY028384,BC021091,BC051357,CR456613 NP_114439,NP_055138,NP_114441,NP_114440,AAF01349,EAW59965,EAW59966,EAW59967,EAW59968,EAW59969,EAW59970,EAW59971,BAD92024,AAF99602,AAG09031,AAG09032,AAG09033,AAG09034,BAF84492,CAB51404,AAK19024,AAH21091,CAG30499,Q59HH1,Q9HBE1,Q9HD72,AAF32518 Hs.517557 MAZR|PATZ|RIAZ|ZBTB19|ZNF278|ZSG|dJ400N23 BTB-POZ domain zinc finger transcription factor|BTB/POZ domain zinc finger transcription factor|MAZ-related factor|POZ-, AT hook-, and zinc finger-containing protein 1|POZ-AT hook-zinc finger protein|protein kinase A RI subunit alpha-associated protein|zinc finger and BTB domain-containing protein 19|zinc finger protein 278|zinc finger sarcoma gene protein protein-coding 69120 PAWR PRKC, apoptosis, WT1, regulator The tumor suppressor WT1 represses and activates transcription. The protein encoded by this gene is a WT1-interacting protein that itself functions as a transcriptional repressor. It contains a putative leucine zipper domain which interacts with the zinc finger DNA binding domain of WT1. This protein is specifically upregulated during apoptosis of prostate cells. [provided by RefSeq] 20637369,10602480,11382383,16169070,16229834,19801652,19823030,20082875,20127709,20368356,20468064,19099901,11278808,15671026,8943350,11585763,18029348,19632185,19470463,19250735,18991852,18951430,18922975,18836307,18676842,18660514,18650932,18506731,18281137,18085546,18041764,17893871,17883592,17881119,17332319,16969273,16966277,16720717,16382046,16369487,15831492,15657440,15489334,15359646,15316756,15246161,15146197,15090548,14755681,14627703,13680279,12897127,12717420,12685825,12644474,12565819,12477932,12242017,11910304,11755531,20433755,10393834,9790775,9701251,8889548,8797824,12917339,20514395,20067857 5074 NM_002583,AC027288,AC073569,AC073595,AF503628,AY300794,CH471054,BC007018,CA313080,CN280333,CR536549,U63809 NP_002574,AAM27453,AAP43693,EAW97346,EAW97347,EAW97348,EAW97349,AAH07018,CAG38786,AAC24947,Q96IZ0 Hs.643130 PAR4|Par-4 PRKC apoptosis WT1 regulator protein|WT1-interacting protein|prostate apoptosis response 4 protein|prostate apoptosis response protein 4|prostate apoptosis response protein PAR-4|transcriptional repressor PAR4 protein-coding 1350216 PAX1 paired box 1 The PAX genes, including PAX1, are a highly conserved family of developmental control genes that encode transcription factors and have been shown to play a role in pattern formation during embryogenesis in vertebrates (McGaughran et al., 2003 [PubMed 12774041]). See PAX7 (MIM 167410) for a discussion of paired box domain genes.[supplied by OMIM] 1580863 19453261,9671740,19080705,18849994,18849991,17764081,16207213,15489334,12833407,12774041,12504088,12477932,11780052,11423130,8863157,7981748,7909508,2501086,1358810,20442585 5075 NM_006192,AL035562,AY740018,CH471133,X15044,AK303335,BC069134,BC143791,BC143793 NP_006183,CAB46996,CAX12115,AAU21037,EAX10180,CAA33146,BAG64398,AAH69134,P15863 Hs.349082 HUP48 paired box gene 1|paired box protein Pax-1|paired domain gene HuP48 protein-coding 1313673 PAX2 paired box 2 PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor supressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1580863,2316757,2316747,727468,2316755 20670131,18609495,18439754,18379529,18056486,17529925,17513325,17269592,16971658,16814811,16735463,16609680,16509931,16436683,16400326,15808183,15652857,15561999,15502805,14627715,14603255,14566649,14561758,12970747,12697057,12200151,12141441,11940591,11826030,11730657,11700324,11461952,11241473,11168927,11134340,11093271,10938089,10908331,10533062,9760197,9738017,9439670,9297966,9132492,8889548,8760285,8661132,8589702,8431641,8241771,7981748,7819127,7795640,1378753,20413145,20358591,16368682,9106533,18000879,19467152,19228645,19118900,19048125,18941400,18685487,16385451,19401348,19517575,19525924,19556301,19749422,19851209,19959718,20061933,9178767,20631067 2316757,2316747,727468,2316755 5076 NM_003990,NM_003988,NM_000278,NM_003989,NG_008680,AF515729,AL138762,AL589862,CH471066,L09747,U45245,U45247,U45248,U45249,U45250,U45251,U45252,U45253,U45254,U45255,AY153483,AY153484,BM671839,L25597,M89470,NM_003987 NP_003978,NP_003981,NP_003979,NP_000269,NP_003980,AAN77093,CAH70951,CAH70952,CAI17855,CAI17856,CAI17857,EAW49809,EAW49810,EAW49811,EAW49812,EAW49813,EAW49814,EAW49815,EAW49816,AAC41711,AAC63385,AAN77899,AAN77900,AAA36417,AAA60024,Q02962,Q5SZP1,Q6YFJ7,Q6YFJ8,AAI41453,AAI48711 Hs.155644 paired box homeotic gene 2|paired box protein Pax-2 protein-coding 1351352 PAX3 paired box 3 This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq] 1580942,1580943,1580944,1599944,1580863 20067553,11029584,17474147,9500554,10871843,8447316,19453261,19320733,20478267,19199574,19142206,19095803,19026785,18988640,18483260,18335505,18327212,18325909,18053811,18022385,17986608,17954266,17704541,17638879,17627390,17613043,17525748,17490646,17285543,17187370,17149730,16971891,16964289,16952014,16951257,16951170,16945326,16582099,16442263,16316407,15688409,15688035,15602708,15313887,15184910,15143176,15140004,14639621,12949970,12739027,12668617,12666593,12647804,12477932,12107410,12039929,11997098,11735247,11683776,11423130,11244500,10942418,10779847,10610023,10529415,10521655,10393185,10191090,9584079,9546061,9541113,9067759,8863157,8845842,8664898,8589691,8533800,8490648,8423616,8322830,8275086,8221646,8098985,7981674,7897628,7862145,7833953,7825605,7782066,7726174,7545913,7091186,6859126,2785681,2609099,2501086,1552554,1536170,1349198,1347149,1347148,1308353,1303193,17662948,10359315,15729346,16300735,16344560,18666806,18788887,19726320,19893043,19953635,20032463,20351326,20605921,19913121,20628086,20634891,11863357,16787918,20664692,20801516 1580942,1580943,1580944,1599944 5077 NM_181460,NM_181458,NM_181459,NM_001127366,NM_181457,NM_000438,NM_013942,NG_011632,AC010980,AC012591,AF156931,AJ007392,CH471063,L10614,S61511,S83614,U12258,U12259,U12260,U12261,U12262,U12263,X15043,X15253,AI399816,AK291278,AY251279,AY251280,BC063547,BC101299,NM_181461,BC101300,BC101301,BC101302,BC114363,CA389778,DN989642,L07483,S69369,S69370,U02309,AI382779,DA758804 NP_852126,NP_852125,NP_852123,NP_852124,NP_001120838,NP_852122,NP_000429,NP_039230,AAY14900,EAW70789,EAW70790,EAW70791,EAW70792,EAW70793,EAW70794,EAW70795,EAW70796,EAW70797,AAA91849,AAB26807,AAB21476,AAA80574,AAA80573,CAA33145,BAF83967,AAP13872,AAP13873,AAH63547,AAI01300,AAI01301,AAI01302,AAI01303,AAI14364,AAB30167,AAB30168,AAA03628,P23760,Q12777,Q494Z3,Q494Z4,Q86UQ2,Q86UQ3,ABZ92174 Hs.42146 CDHS|HUP2|MGC120381|MGC120382|MGC120383|MGC120384|MGC134778|WS1|WS3 paired box homeotic gene 3|paired box protein Pax-3|paired domain gene 3|paired domain gene HuP2 protein-coding 1347682 PAX4 paired box 4 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq] 1580863,2311633,2311632,2311634,2311635 18029348,19578796,19641380,19956100,20360641,20485196,9480859,19228875,19056482,18949370,18617287,18335054,17989064,17717051,17633464,17426099,16911636,16701883,16546275,16423628,16123375,15838687,15834548,15650323,15596543,15509590,15489334,15161765,12829700,12690205,12604352,12477932,12200761,11723072,11263967,10967107,9753306,9598721,9439631,8431641,8287686,7981748 2311633,2311632,2311634,2311635 5078 NG_012848,NM_006193,AC000359,AC073934,CH236947,CH471070,AB008913,AF043978,BC074761,BC107149,BC107150,DQ442656 NP_006184,EAL24318,EAW83633,EAW83634,BAA24506,AAD02289,AAH74761,AAI07150,AAI07151,ABD97848,O43316,Q1W386,Q3KNR4,Q3KNR5,ABZ92175 Hs.129706 KPD|MGC129960|MODY9 paired box gene 4|paired box protein Pax-4|paired domain gene 4 protein-coding 1352156 PAX5 paired box 5 This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternatively spliced transcript variants encoding different isoforms have been described but their biological validity has not been determined. [provided by RefSeq] 1580863 20197384,8650231,8431641,7981748,1516825,10524629,10524622,19145202,19139719,19020546,18957548,18829564,18643853,18617575,18604731,18415655,18343782,18192112,17717600,17682124,17635241,17626071,17535098,17529924,17476282,17431414,17102626,17050077,16680144,16541139,16518692,15492262,15385562,14594818,12731041,12612069,12609061,12524387,12453881,12221090,12153506,12054881,11877292,11799127,11781241,11779502,11460166,11134340,10811620,10748034,10533313,10455134,10197586,10022910,9742255,9486401,8943844,18718064,19368954,19549820,19586940,19587702,19616560,19641453,19725825,20023257,20118907,20160164,20233627,20379614,20435627,20882442,21043826 5079 AF074913,AF268279,AF386790,AF386791,AL161781,AL450267,CH471071,U56835,U56836,AF080573,AY463952,AY463953,AY463954,AY463955,AY463956,AY463957,FJ626406,FJ626407,FJ626408,FJ626409,FJ626410,FJ626411,FJ626415,FJ626416,FJ626419,FJ626420,FJ626421,FJ626422,FJ626423,FJ626424,FJ626425,M96944,U62539,NM_016734,FJ626417,EF064717 NP_057953,AAC69188,AAK25737,AAK70869,AAK70870,CAH72137,CAH72740,EAW58294,EAW58295,EAW58296,EAW58297,EAW58298,EAW58299,AAB16832,AAB16833,AAC35286,AAR27590,AAR27591,AAR27592,AAR27593,AAR27594,AAR27595,ACM91589,ACM91590,ACM91591,ACM91592,ACM91593,ACM91594,ACM91598,ACM91599,ACM91602,ACM91603,ACM91604,ACM91605,ACM91606,ACM91607,ACM91608,AAA58397,AAB09533,Q02548,Q6S728,Q6S729,Q6S730,Q6S732,Q93057,Q6S731,Q9BXX4,AAI56190,AAI56928,ACM91600,ABK41900 Hs.654464 BSAP B cell specific activator protein|B-cell lineage specific activator|B-cell-specific transcription factor|paired box homeotic gene 5|paired box protein Pax-5|transcription factor PAX 5 protein-coding 737459 PAX6 paired box 6 This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding either the same or different isoform have been found for this gene. [provided by RefSeq] 1580863,1358554,1601209,1601210,1601211 16675956,17291498,17982423,19650334,19651775,19686589,19790232,19806578,19806579,19862335,19898691,19907666,19917615,19948975,20054790,20074565,20360993,20379614,18029348,20713004,20801516,12710953,12552561,12477932,12325030,12324464,12107413,12107410,12043047,11850181,11358870,11350962,11309364,11069920,11036080,10955655,10610023,10506141,10359315,10346815,10234503,9931324,9856761,9792406,9538891,9482572,9281415,9147640,12721955,9138149,9056723,8889548,8640214,8364574,8162071,8111379,7958875,7951315,7909985,7757816,7698003,7668281,7666404,7550230,7065945,1684738,1345175,1302030,19793656,17415970,20523026,20621053,20308539,20664694,20806047,16098226,10441571,10747901,19607881,19414065,19218613,19142206,19124844,19034419,18973570,18776953,18766996,18754095,18616618,18595732,18593849,18467663,18440259,18421978,18393239,18334930,18332330,18273794,18243151,18241071,18070176,17948041,17947347,17908181,17901057,17898260,17896318,17893655,17679951,17653045,17595013,17568989,17485622,17417613,17318412,17202185,17148041,17031679,16873704,16803629,16785853,16712695,16637659,16604056,16582099,16543198,16511221,16407227,16344560,16303743,16115881,15918896,15889018,15757974,15735909,15677484,15659382,15629294,15489334,15389894,15143176,15086958,15079031,15066147,14872040,14702039,12953159,12923055,12868034,12789139,12731001,16189514,20396773,20577777,20592023 1358554,1601209,1601210,1601211 5080 GQ141695,NM_000280,NM_001604,NG_008679,AF548390,AY307164,AY337852,AY956821,CH471064,DQ251039,S70304,S70305,S70307,Z83307,NM_001127612,AB209177,AK074881,AK094172,AK094249,AK314470,AY047583,AY707088,BC011953,BE221553,BI789171,BI816814,BM313099,BM557761,BM725029,BP394398,BP394576,BU072567,BX089704,BX114225,BX440968,BX640762,CA397536,CD673930,DA078958,DA183294,F07809,M77844,Z95332,M93650 ACZ28705,NP_001121084,NP_000271,NP_001595,AAN86817,AAP74576,AAR10412,AAX56950,EAW68233,EAW68234,EAW68235,EAW68236,ABB55263,AAB30690,AAB30691,AAB30692,CAG38083,CAG38084,CAG38085,CAG38086,CAG38087,CAG38359,CAG38360,CAG38361,CAG38362,CAG38363,BAD92414,BAG52023,AAK95849,AAU12168,AAH11953,CAE45868,AAA59962,AAA59963,AAA36416,P26367,Q2XU31,Q56H36,Q59GD2,Q6VMP0,Q7Z5Y4,Q8IVH0,ABM82362,ABM85538 Hs.270303,Hs.611376 AN|AN2|D11S812E|MGC17209|MGDA|WAGR OTTHUMP00000038834|OTTHUMP00000038836|OTTHUMP00000038837|OTTHUMP00000038838|OTTHUMP00000038839|OTTHUMP00000038840|aniridia type II protein|oculorhombin|paired box homeotic gene-6|paired box protein Pax-6 protein-coding 1604064 PAX7 paired box 7 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20333749,2501086,17474147,9339373,10871843,19142206,17954266,17613043,16830101,16710414,15688409,15527970,15184910,14702039,12865925,12647804,12477932,12234688,12039929,11601392,9731536,8789435,8431641,8104868,8012384,7981748,7902328,7527137,17285543,17662948,18788887,18988640,19097049,19453261,20351326,20677014 5081 NG_023262,NM_002584,NM_013945,NM_001135254,AJ130875,AL021528,CH471134,X15042,X15251,X96744,X96745,X96746,X96747,X96748,Z64432,AK094779,BC121165,BC121166,DB474828,DQ322591,X96743,Z35141 NP_002575,NP_039236,NP_001128726,CAA16432,EAW94853,EAW94854,EAW94855,EAW94856,CAA65521,CAA65522,AAI21166,AAI21167,ABC48797,CAA65520,CAA84513,P23759,Q2PJS5 Hs.113253 FLJ37460|HUP1|PAX7B|RMS2 PAX7 transcriptional factor|paired box gene 7|paired box homeotic gene 7|paired box protein Pax-7|paired domain gene 7 protein-coding 730849 PAX8 paired box 8 This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternateively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863,1600298 16763387,9590296,10377248,18976153,18974227,18829450,18768662,18724243,18670350,18632625,18084247,17614769,17468187,17437516,17064757,16814811,20492080,20463571,17980011,19010321,19525927,19730683,19797117,19963130,20157192,20379614,20414099,8861958,20470391,20513481,16613988,16352687,16344560,16219715,16179407,16029487,15961562,15718293,15489334,15362967,15356023,15355349,15062550,14970209,14702039,14623893,14531730,12970322,12727991,12699588,12519876,12477932,12441357,12161538,11923479,11502839,11232006,11134340,10924503,9590297,9388203,9373149,8889548,8431641,8413205,8125298,7981748,7737192,1337742,20634891,20572292,20667985,18029348,20211142,20857061,20302910 1600298 7849 NM_013992,NM_013953,NM_003466,NM_013952,NG_012384,AC016683,CH471217,FJ695202,X99590,AK023855,AK225538,AK292191,AK307173,AK309154,AU141429,BC001060,BG398792,BM726535,CR936798,L19606,S77904,S77905,S77906,X69699 NP_054698,NP_039247,NP_003457,NP_039246,AAX88880,EAW73629,EAW73630,EAW73631,EAW73632,EAW73633,EAW73634,EAW73635,EAW73636,EAW73637,EAW73638,EAW73639,CAA67903,BAF84880,AAH01060,AAA03539,AAB34216,AAB34217,AAB34218,Q06710,Q99573,ABM83206,ABM86406 Hs.469728 OTTHUMP00000203723|OTTHUMP00000203724|paired box protein Pax-8|paired domain gene 8 protein-coding 1352334 PAX9 paired box 9 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 9 gene is unknown but it may involve development of stratified squamous epithelia as well as various organs and skeletal elements. [provided by RefSeq] 1580863 16191360,18653171,19429910,19453261,19816326,20544801,20485064,20618716,20634891,19279207,19142206,18978678,18701815,18519826,18445003,18353002,18028048,17910065,17697174,17412341,16651263,16479262,16344560,16333316,16247549,16137495,16086281,15615874,15489334,14689302,14607846,14571272,12833407,12786960,12657635,12490878,12477932,12115874,12107448,11941488,11781684,11374781,10899593,10615120,9021154,7981748 5083 DB196800,NG_013357,NM_006194,AJ238381,AJ238382,AJ238383,AL079303,AY338688,CH471078,L09745,AB248958,AK310339,AK313627,AW293964,BC001159,DA667732,DB233208,U59628,X92850 NP_006185,CAB41533,AAQ16120,EAW65853,BAE79273,BAG36387,AAH01159,AAD09487,CAA63436,O95616,P55771,Q2L4T1,Q7Z4A7,ABW03825,ABW03512 Hs.132576,Hs.609574 STHAG3 paired box protein Pax-9|paired domain gene 9 protein-coding 1316804 PAXIP1 PAX interacting (with transcription-activation domain) protein 1 This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq] 19124460,18353733,17690115,17500065,15456759,14702039,14576432,12588986,12477932,11940591,10908331,9847074,9225980,16189514,17761849,19414588,19583951,20379614,17178841,17925232,19047629 22976 CR993144,U80735,AC093726,CH236962,CH471149,AK093584,AK123044,AK123600,AK126674,AK293744,AK307417,BC008328,BC033781,BQ222021,BX538201,BX640616,CR620095,NM_007349,NG_023293 AAB91434,Q6ZW49,NP_031375,AAP21865,EAX04524,EAX04525,BAC85523,BAC85657,BAG54355,BAG57167,AAH08328,AAH33781,CAD98066,CAE45762 Hs.443881 CAGF28|CAGF29|FLJ41049|PACIP1|PAXIP1L|PTIP|TNRC2 OTTHUMP00000199835|PAX transactivation activation domain-interacting protein|PAX transcription activation domain interacting protein 1 like|PAX-interacting protein 1|protein encoded by CAG trinucleotide repeats protein-coding 1343545 PBCRA1 progressive bifocal chorioretinal atrophy 1 9719369,9691169 7948 1345300 PBEF2 pre-B-cell colony enhancing factor 2 737633 12477932,8289818 737633 646309 NG_005593,AL590730 PBEF2|bA92J19.4 pseudo 1353538 PBG1 pancreatic beta cell glycoprotein 1 5084 1351038 PBK PDZ binding kinase This genes encodes a serine/threonine kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. This mitotic kinase may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. [provided by RefSeq] 1580863 10779557,18519826,17631144,17545598,17482142,17081983,16291951,16189514,16169070,15761153,15541388,15489334,14757441,14702039,12620389,12477932,11783945,11378444,10781613,15729360,15782160,17145805,20622899,19900192,19954816,20379614,20647304,20589935 55872 NM_018492,AC104997,CH471080,AB027249,AB027250,AF189722,AF237709,AK027291,AK301836,BC015191,BI461026,CR602995,CR623970 NP_060962,EAW63536,EAW63537,BAA99576,BAA99577,AAF69107,AAF71521,BAB55019,BAG63280,AAH15191,Q96KB5,ABM84068,ABM87426 Hs.104741 CT84|FLJ14385|Nori-3|SPK|TOPK MAPKK-like protein kinase|PDZ-binding kinase|T-LAK cell-originated protein kinase|cancer/testis antigen 84|lymphokine-activated killer T-cell-originated protein kinase|serine/threonine protein kinase|spermatogenesis-related protein kinase protein-coding 1606247 PBLD phenazine biosynthesis-like protein domain containing 16189514,15806103,15489334,14702039,12477932,11355021,1286669,16712791,20395239,20548946,16385451 64081 NM_022129,NM_001033083,AC016395,CH471083,AB049758,AI114748,AI439144,AK027673,AK092826,AK312275,BC009738,CB121561 NP_071412,NP_001028255,EAW54273,EAW54274,EAW54275,EAW54276,EAW54277,EAW54278,BAB16606,BAB55285,BAC03986,BAG35205,AAH09738,P30039,Q8NAD7 Hs.198158 FLJ14767|FLJ35507|MAWBP|MAWDBP MAWD binding protein|MAWD-binding protein|OTTHUMP00000019698|OTTHUMP00000082489|phenazine biosynthesis-like domain-containing protein protein-coding 1353155 PBM1 pre-B-cell monocytic leukemia partner 1 5085 1346457 PBOV1 prostate and breast cancer overexpressed 1 1580863 17656261,15489334,14574404,12553037,12477932,11156405,19714462 59351 NM_021635,AL031433,CH471051,AF189269,AF189270,BC069109 NP_067648,EAW47919,AAG17117,AAG17118,AAH69109,Q9GZY1 Hs.302016 UC28|UROC28|dJ171N11.2 prostate and breast cancer overexpressed 1 protein-coding 1348466 PBPP1 prostatic binding protein pseudogene 1 326614 NG_002604,AL359240 PBPP1 pseudo 1605656 PBRM1 polybromo 1 11078522,12368262,15985610,18339845,18191465,17320048,17081983,16964243,16344560,16094384,15735765,14702039,12672490,12487023,12477932,11780067,11483580,8889549,11591653,20081856,20379614,20368734,20660729,19650111,21037240 55193 AY281068,BC015323,BC070273,BC089409,BC115009,BC115010,BC115011,BC116450,BC129934,BC129935,BE672944,BG778619,BU171600,BU619411,CA438315,CR610723,CV573455,DA039085,NM_018313,NM_018165,NM_181042,AC104446,AC112215,CH471055,AA047886,AF177387,AF197569,AF225870,AF225871,AF225872,AK001507,AK001926,AK056541,AL050083 AAP34197,AAH15323,AAH70273,AAH89409,AAI15010,AAI15011,AAI15012,AAI29935,AAI29936,Q5EBM5,Q6IRX1,Q86U86,Q9H3B1,Q9NUX9,Q9NVM2,NP_060783,NP_060635,NP_851385,EAW65239,EAW65240,EAW65241,EAW65242,EAW65243,EAW65244,EAW65245,EAW65246,EAW65247,EAW65248,AAG48933,AAG34760,AAG48939,AAG48940,AAG48941,BAA91728,BAA91982,BAB71210 Hs.189920 BAF180|MGC156155|MGC156156|PB1 BRG1-associated factor 180|OTTHUMP00000202149|OTTHUMP00000202150|OTTHUMP00000202151|OTTHUMP00000202153|OTTHUMP00000202163|hPB1|polybromo-1D|protein polybromo-1 protein-coding 1343781 PBT piebald trait 5086 1317860 PBX1 pre-B-cell leukemia homeobox 1 1580863 15684392,19346496,19522013,19536175,19767769,19782160,19799567,20195544,20379614,8657138,8327485,7910944,1967983,1967982,1682799,1671560,7729685,10052460,14701856,10500199,18029348,19064610,18984668,18974129,18973687,18455790,18312624,18093541,17200190,17131398,16914730,16769578,16710414,16637071,16344560,16328158,16215946,16140554,15979049,15770739,15507449,15489334,15161102,14702039,14536079,12923056,12724421,12609849,12487626,12477932,12145285,11912494,11834421,11571641,11279116,11267683,11069920,10523646,10471746,10373562,10082572,9482740,9482739,19913121,20628086,20211142,20966902 5087 AK022520,AL049381,BC044624,BC143435,BC143451,CR593247,NM_002585,AF313404,AL357568,AL359255,AL390119,AL391001,CH471067,AK022962,AK291415,AK299673,AK301540,BC101578,BT006705,BX647313,CR604075,CR749446,DA492007,DA770191,DB289928,M31170,M86546 NP_002576,AAG30941,CAI14908,CAI14909,CAI14910,CAI14854,CAI14855,CAI14856,CAH73499,EAW90738,EAW90739,EAW90740,EAW90741,BAF84104,BAG61583,BAH13510,AAI01579,AAP35351,CAH18284,AAA36484,AAA60031,P40424,Q68DD6 Hs.557097 DKFZp686B09108|MGC126627 OTTHUMP00000032205|Pre-B cell leukemia transcription factor-1|homeobox protein PBX1|homeobox protein PRL|pre-B-cell leukemia transcription factor 1 protein-coding 1350680 PBX2 pre-B-cell leukemia homeobox 2 This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq] 1580863 19913121,20587610,20628086,20126986,14667819,18973687,16344560,15489334,14656967,14574404,12871956,12609849,12477932,12054735,11438208,10082572,9482739,8661110,7910944,7835890,7759099,1682799,19356220,19659809,19851445,20416077,17207965 5089 NM_002586,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,D28769,U89336,X80700,BC003111,BC082261,BQ182713,BT009823,CR601493,DB162975,X59842 NP_002577,CAI17539,CAI18358,CAI41814,CAM26228,CAQ06600,EAX03613,EAX03622,CAQ10704,CAQ09629,BAA05957,AAB47490,CAA56717,AAH82261,AAP88825,CAA42503,P40425,Q6NW39,Q7KZE5,ADQ32061 Hs.509545,Hs.718462 G17|HOX12|PBX2MHC homeobox 12|homeobox protein PBX2|pre-B-cell leukemia transcription factor 2 protein-coding 1349399 PBX2P1 pre-B-cell leukemia homeobox 2 pseudogene 1 7835890,7759099,1682799 5088 NG_002434,AC018450 PBX2|PBXP1 pseudo 1316248 PBX3 pre-B-cell leukemia homeobox 3 1580863 19626039,10082572,1682799,18029348,16189514,15489334,15466398,15164053,15146197,14702039,12477932,12107413,11571641,11438208,19913121,20583170,20628086,20211142 5090 NR_024122,NR_024123,NM_001134778,AL358074,AL445186,AL627303,CH471090,AF355141,AF355142,AI479638,AJ420602,AK027170,AK092148,AK289376,AK297093,AK299267,AK309713,AK312717,BC016977,NM_006195,BC094883,CD675622,CN372830,CN372832,CR620669,X59841 NP_006186,NP_001128250,CAH73695,CAH73696,CAI40241,CAI40242,CAI40243,CAI40244,CAI40245,EAW87635,EAW87636,EAW87637,EAW87638,AAL09477,AAL09478,BAF82065,BAH12495,BAH12986,AAH16977,AAH94883,CAA42502,P40426,Q5JS99,Q96AL5 Hs.428027 OTTHUMP00000022146|homeobox protein PBX3|pre-B-cell leukemia transcription factor 3 protein-coding 1345476 PBX4 pre-B-cell leukemia homeobox 4 This gene encodes a homeodomain protein with similarity to a transcription factor involved in translocations in pre-B-cell leukemias. The presence of a homeobox domain suggests that this protein acts as a transcription factor, but this function has not been demonstrated. [provided by RefSeq] 1580863 19060906,18987386,18193044,15489334,20679960,14702039,12477932,11335119 80714 NM_025245,AC002306,AC011448,CH471106,AJ300182,AK097427,AK301631,BC033067,BC141859,BC143588,BC143589,BG683004 NP_079521,EAW84834,EAW84835,CAC28212,BAG53471,BAH13525,AAI41860,Q9BYU1,AAI43093 Hs.466257 homeobox protein PBX4|pre-B-cell leukemia transcription factor 4|pre-b-cell leukemia transcription factor 4 protein-coding 1313054 PBXIP1 pre-B-cell leukemia homeobox interacting protein 1 1580863 10825160,16713569,16189514,14702039,12477932,12360403,7505766,18029348,19060904 57326 AK300544,AK300987,AK303413,AK303863,AK310388,AK310712,AK315551,BC016852,U00952,AL451085,CH471121,AF221521,AK022497,NM_020524,AK023219 BAB14471,BAG62252,BAG62606,BAG64466,BAG64802,AAH16852,Q96AQ6,ABZ92129,NP_065385,CAI13238,CAI13239,CAI13240,CAI13241,EAW53174,EAW53175,EAW53176,AAG02026,BAB14059 Hs.505806 HPIP OTTHUMP00000035486|hematopoietic PBX-interacting protein|pre-B-cell leukemia transcription factor interacting protein 1|pre-B-cell leukemia transcription factor-interacting protein 1|pre-b-cell leukemia transcription factor interacting protein 1 protein-coding 733418 PC pyruvate carboxylase This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq] 1300048,2302972,2302809,2302851,2302971,1580863,1601549,737741,1601554 18676167,19296078,19306334,9585002,8349677,7822739,7805591,7698008,6548474,3555348,20877624,8048912,12437512,7918683,16729965,19004141,18297087,16344560,16325442,15489334,15146197,12477932,12142734,12112657,10229653,9597748,9585612,20807508 2302972,2302809,2302851,2302971,1601549,737741,1601554 5091 NM_000920,NM_001040716,NM_022172,NG_008319,AP000485,AP003176,CH471076,AK297705,BC011617,CN267865,CR618813,CR620429,DA542083,K02282,M26122,S72370,U04641,U30889,U30890,U30891,HB872407,HB873667,HB875538,HB880048,HB888783,HB921592,HC929816,HC931076,HC932947,HC937457,HC946192,HC979001 NP_000911,NP_001035806,NP_071504,EAW74568,EAW74569,EAW74570,EAW74571,EAW74572,BAG60062,AAH11617,AAA60033,AAA36423,AAB31500,AAA99537,AAA82937,P11498,CBF60260,CBF61085,CBF62141,CBF64322,CBF68536,CBF95786,CBU85504,CBU86113,CBU87017,CBU89198,CBU93410,CBV09306 Hs.89890 PCB pyruvate carboxylase, mitochondrial|pyruvic carboxylase protein-coding 1347053 PCA3 prostate cancer antigen 3 (non-protein coding) 19319183,18707724,18684556,18602209,18061575,15067329,14607216,12814669,12680228,10606244,20114043,19424173,19489685,19708043,19760627,20332487,20424427,20637539 50652 NR_015342,AF103908,AL359314,AF103907,AY894120,DQ374660,AL390239 Hs.663766 DD3|NCRNA00019 miscrna 1347827 PCANAP2 prostate cancer associated protein 2 61503 10613842 61503 50629 AF109299 Hs.278695 IPCA-2 protein-coding 1349133 PCANAP7 prostate cancer associated protein 7 61503 61503 AF109302 1354136 PCANAP8 prostate cancer associated protein 8 61503 10613842 61503 50633 AF109303 Hs.278695 IPCA-8 protein-coding 1343740 PCAP predisposing for prostate cancer 9585607 7834 2293374,2299878,2299881 PRSTS278_H,PRSTS315_H,PRSTS316_H 1604063 PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1). [provided by RefSeq] 16189514,1763325,16423549,15740590,15489334,12565907,12477932,11980910,11937441,11668623,11461190,10727395,10098606,9760199,9585615,9391049,9092652,8889548,8682201,8618906,8504250,8486378,8444860,8352282,8188266,7763270,17353931,16385451,19491146,19674121,20532202 5092 NM_000281,NG_008646,AC073176,CH471083,L15410,L15427,L15428,L41560,AA397961,AF082858,BC006324,BM724638,BQ685076,CR542194,L41559,M83742 NP_000272,EAW54417,AAA35670,AAA35671,AAA35672,AAA69662,AAD25732,AAH06324,CAG46991,AAA69663,P61457,Q6FGB3,Q6LEE0,Q6LEE1,Q6LEE2 Hs.3192 DCOH|PCBD|PCD|PHS 4-alpha-hydroxy-tetrahydropterin dehydratase|6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)|dimerization cofactor of HNF1|dimerizing cofactor for HNF1|phenylalanine hydroxylase-stimulating protein|pterin-4-alpha-carbinolamine dehydratase protein-coding 1353306 PCBD2 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 11980910,18391951,15546961,15489334,15182178,12646162,12477932,11591653,11230166,8889548,17353931,20211142,20877624 84105 NM_032151,AC006077,AC008670,CH471062,AF499009,AK098495,AL136721,BC054021,BU730195 NP_115527,EAW62229,AAM18136,CAB66655,AAH54021,Q9H0N5,ACE87547,ACE86859 Hs.710014 DCOH2|DCOHM|PHS2 4-alpha-hydroxy-tetrahydropterin dehydratase 2|6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2|6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (tcf1) 2|DcoH-like protein DCoHm|HNF-1-alpha dimerization cofactor|OTTHUMP00000223130|OTTHUMP00000223131|PHS 2|dimerization cofactor of hepatocyte nuclear factor 1 (HNF1) from muscle|dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)|dimerization cofactor of hepatocyte nuclear factor 1 from muscle|pterin-4 alpha-carbinolamine dehydratase 2|pterin-4-alpha-carbinolamine dehydratase 2 protein-coding 1353218 PCBP1 poly(rC) binding protein 1 This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq] 1580863 7556077,7607214,8152927,16713569,12226669,19211566,18656558,18511687,17622584,17389360,17383969,17081983,16964243,16775011,16510139,16341674,16248985,15933215,15635413,15514164,15489334,15456888,15302935,15246275,15169918,14612387,12970749,12933794,12890803,12527772,12431987,12414943,12011088,11790298,11591653,10936052,10455157,10373504,9234743,8855318,8833161,12477932,20361869,20609352,17643375,20519371,17207965 5093 NM_006196,AC016700,CH471053,AK130439,AK314225,BC039742,BM794597,CR593186,CR596610,CR598326,CR600333,CR613158,CR618539,CR620735,CR624156,U24223,X78137,Z29505 NP_006187,AAX93191,EAW99834,BAG36897,AAH39742,AAA91317,CAA55016,CAA82631,Q15365,Q53SS8,ADQ32466 Hs.2853 HNRPE1|HNRPX|hnRNP-E1|hnRNP-X alpha-CP1|heterogeneous nuclear ribonucleoprotein E1|heterogenous nuclear ribonucleoprotein E1|heterogenous nuclear ribonucleoprotein X|hnRNP E1|nucleic acid binding protein sub 2.3|nucleic acid-binding protein SUB2.3|poly(rC)-binding protein 1 protein-coding 1320065 PCBP2 poly(rC) binding protein 2 The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. Thsi gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 7607214,16713569,7556077,12226669,19211566,18929541,18701464,18687895,18656221,18252259,18174314,18086560,17672918,17581994,17526645,17426136,17219427,17145707,17081983,16341674,16186123,16094384,15489334,15331611,15231748,14702039,14612387,12970749,12527772,12515719,12477932,12414943,12011088,10936052,10772858,10455157,10373504,10068686,9373149,9234743,9223526,8855318,8833161,8125298,8871564,11747608,17183366,17327219,17643375,19029303,19881509,19945132,20211135,19230839 5094 BC035420,BC071942,BC107688,BE748080,BF509278,BM764315,BU844465,CR590150,CR602496,CR603638,CR606382,CR620547,CX164318,X78136,NM_031989,NM_001098620,NM_005016,NM_001128911,NM_001128912,NM_001128913,NM_001128914,AC023509,AC068889,CH471054,CS185528,AB188306,AB208825,AK023529,AK123458,AK130583,AK225357,AK292141,AK296930,AK299210,AK302067,BC001155 AAH71942,AAI07689,CAA55015,Q15366,Q32Q82,Q59HD4,Q68Y55,Q6IPF4,AAH01155,NP_114366,NP_001092090,NP_005007,NP_001122383,NP_001122384,NP_001122385,NP_001122386,EAW96706,EAW96707,EAW96708,EAW96709,EAW96710,EAW96711,CAJ42709,BAD36897,BAD92062,BAF84830,BAG59482,BAG61249,BAG63457 Hs.546271 HNRPE2|MGC110998|hnRNP-E2 alpha-CP2|heterogeneous nuclear ribonucleoprotein E2|heterogenous nuclear ribonucleoprotein E2|hnRNP E2|poly(rC)-binding protein 2 protein-coding 1352135 PCBP2P1 poly(rC) binding protein 2, pseudogene 1 10936052,10830953 54040 AJ003060,NG_000916,AF064859,AF129408 pseudo 1351102 PCBP2P2 poly(rC) binding protein 2, pseudogene 2 10936052 286157 NG_008071,AC115837 pseudo 4144390 PCBP2P3 poly(rC) binding protein 2 pseudogene 3 100131236 AC010256,AC093298,NG_021857 pseudo 1316622 PCBP3 poly(rC) binding protein 3 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 18029348,17643375,19914360,10936052,7556077,16780588,16713569,15489334,14702039,14612387,12477932,12358435,12003487,10830953 54039 NM_020528,NM_001130141,AJ011931,AJ239328,AL592528,CH471079,AF176329,AK094301,AK310131,AK310672,AY780793,BC012061,CR614371,CR619634 NP_065389,NP_001123613,EAX09323,EAX09324,EAX09325,EAX09326,AAG09240,BAC04327,AAV98363,AAH12061,P57721,Q5MJP6 Hs.474049 ALPHA-CP3 OTTHUMP00000115464|OTTHUMP00000115465|OTTHUMP00000115466|OTTHUMP00000115467|OTTHUMP00000115468|OTTHUMP00000115469|poly(rC)-binding protein 3 protein-coding 1626530 PCBP3OT poly(rC) binding protein 3 overlapping transcript 17525332 100113383 AK126016 BAC86394,Q6ZU33 Hs.474049 FLJ44028 protein-coding 1317376 PCBP4 poly(rC) binding protein 4 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq] 1580863 19913121,20628086,10936052,17973258,16713569,15489334,14702039,14612387,12477932,12003487,11984006,11313928,10891498,9373149,8125298,15205328,16344560,8889548 57060 AK023993,AK225815,BC003008,BC004153,BC017098,BX647811,CR618312,CR619270,CR620579,NM_033008,NM_033010,NM_020418,AC115284,AF257772,CH471055,AF092441,AF141340,AF176330,AF257770,AF257771,AK001244,BU684420,DA074216,DA701799,NM_001174100 BAB14761,AAH03008,AAH04153,AAH17098,P57723,Q7Z4Y9,Q9C064,Q9GZT1,Q9HCU2,NP_127501,NP_127503,NP_065151,AAG02186,EAW65165,EAW65166,EAW65167,EAW65168,EAW65169,EAW65170,EAW65171,EAW65172,EAW65173,EAW65174,EAW65175,EAW65176,EAW65177,AAP97216,AAG49443,AAG09241,AAG02184,AAG02185,BAG50876,NP_001167571 Hs.725220 CBP|LIP4|MCG10 LYST-interacting protein|OTTHUMP00000212036|OTTHUMP00000212037|OTTHUMP00000212039|RNA binding protein MCG10|alpha-CP4|alphaCP-4 protein|poly(rC)-binding protein 4 protein-coding 736733 PCCA propionyl Coenzyme A carboxylase, alpha polypeptide The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1600306 11749052,19157941,19296078,20379614,8889548,3460076,19157943,17966092,17051315,16344560,15890657,15489334,15059621,14702039,12559849,12477932,12385775,12226704,11592820,11136555,10502773,10329019,10101253,9373149,8895530,8434582,8188292,8125298,7656816,3687944,3555348,2740237,1427880,20725044,19913121,20628086,20877624 1600306 5095 CB851764,NM_001178004,NM_000282,NM_001127692,NG_008768,AL136526,AL353697,AL355338,AL356575,AY035808,CH471085,AF385926,AK055982,AK225288,AK225299,AK296771,AK298318,AK315503,BC000140,CR620827,DA781564,M13572,M26121,S55656,S79219,X14608,Z36837,HB872329,HB873589,HB875460,HB879970,HB888705,HB921514,HC929738,HC930998,HC932869,HC937379,HC946114,HC978923 NP_001171475,NP_000273,NP_001121164,CAI39554,CAI39556,CAI39557,CAI40431,CAI40432,CAI40434,CAH70370,CAH72681,AAK61392,EAX09032,EAX09033,EAX09034,BAG59350,BAG60571,BAG37887,AAH00140,AAA60035,AAA36424,AAB25345,AAB35181,CAA32763,P05165,Q16380,Q5JTW4,AAL66189,CBF60221,CBF61046,CBF62102,CBF64283,CBF68497,CBF95747,CBU85465,CBU86074,CBU86978,CBU89159,CBU93371,CBV09267 Hs.80741 PCCase alpha subunit|pccA complementation group|propanoyl-CoA:carbon dioxide ligase alpha subunit|propionyl Coenzyme A carboxylase, alpha polypeptide|propionyl-CoA carboxylase alpha chain, mitochondrial protein-coding 731965 PCCB propionyl Coenzyme A carboxylase, beta polypeptide The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). [provided by RefSeq] 1300048,1600331,1580863 8188292,17051315,16344560,15489334,15059621,14671302,12757933,12559849,12477932,12189489,12007220,11749052,10502773,10447268,9683601,9373149,8411997,8225321,8125298,7092804,6245185,3460076,2895916,2587127,2154743,240144,19936222,20031576,20725044,19913121,20628086,20877624 1600331 5096 NM_000532,NG_008939,AC069524,AJ006487,AY399219,CH471052,M31167,M31169,AB209009,AF217984,AK130359,AK225215,AK225733,AK295312,AK302522,AK303079,AL831978,BC005909,BC013768,BC018013,BC053661,CR601703,CR603056,CR607835,CR609162,CR614392,CR618864,CR621266,CR624803,DA090969,M13573,S67325,X73424,AI191766,NM_001178014 NP_000523,CAA07066,EAW79116,EAW79117,EAW79118,AAA60037,AAA60038,BAD92246,AAG17227,BAH12030,BAH13735,BAH13894,CAD89898,AAH13768,AAH18013,AAH53661,AAA60036,AAB28900,CAA51825,P05166,Q59GV0,Q86TD7,Q8WVH4,Q9HBR7,NP_001171485 Hs.63788 DKFZp451E113 OTTHUMP00000216507|OTTHUMP00000216508|OTTHUMP00000216510|OTTHUMP00000216511|OTTHUMP00000216512|OTTHUMP00000216513|OTTHUMP00000216514|OTTHUMP00000216515|OTTHUMP00000216522|PCCase subunit beta|propanoyl-CoA:carbon dioxide ligase subunit beta|propionyl Coenzyme A carboxylase, beta polypeptide|propionyl-CoA carboxylase beta chain, mitochondrial protein-coding 1318287 PCDH1 protocadherin 1 This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq] 1580863 9132272,8889548,8508762,16303743,15592455,15345747,15231748,12477932,10835267,10817752,10716726,19729670 5097 NM_032420,NM_002587,AC094107,CH471062,CS174722,AK075233,AK289512,AK300564,AK304231,BC035812,BC051287,BC075821,BU743106,CR610421,CR621435,L11369 NP_115796,NP_002578,EAW61900,EAW61901,EAW61902,EAW61903,CAJ34554,BAG52090,BAF82201,BAG62270,BAG65100,AAH35812,AAA36418,Q08174 Hs.79769 FLJ53887|MGC45991|PC42|PCDH42 OTTHUMP00000222763|cadherin-like 1|cadherin-like protein 1|protocadherin 42|protocadherin-1|protocadherin-42 protein-coding 1348202 PCDH10 protocadherin 10 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal receptor thought to play a role in the establishment and function of specific cell-cell connections in the brain. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Alternatively spliced transcripts encode isoforms with unique cytoplasmic domains. [provided by RefSeq] 1580863 19262141,19084528,18644894,16247458,12477932,11549318,11230163,10835267,10817752,10718198,10716726,10380929,8012384,20353276,19681120,19709077,20379614,18621663 57575 NM_032961,NM_020815,AC105383,CH471056,Z60272,AB037821,AK024636,AK314377,AL157470,AY013874,BC111560,CR595751,CR625417 Q9H7F2,Q9NSR3,Q9P2E7,NP_116586,NP_065866,AAY41018,EAX05151,EAX05152,BAA92638,BAB14940,BAG37004,CAB75667,AAK21987,AAI11561,Q14DV7,Q96SF0 Hs.192859 DKFZp761O2023|KIAA1400|MGC133344|OL-PCDH|PCDH19 ortholog of OL-pcdh|protocadherin-10 protein-coding 1353305 PCDH11X protocadherin 11 X-linked This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains. [provided by RefSeq] 20555150,20574532,20707987,15905963,10644456,19136949,19125366,18029348,16825765,15772651,14727141,14660691,12815422,11003707,10835267,10817752,10718198,10716726,9110174,8619474,16874762,18502103,19859901,20523261,8889548 27328 AK299813,AK316263,AY861432,AY861433,AY861434,AY861435,U79247,NM_032967,NM_032968,NM_032969,NM_014522,AC004388,AC004478,AL121869,AL133274,AL133321,AL136362,AL590122,AB026187,AB026188,AB037747,AF206516,AF217288,AF332218,AF332219,AJ276804,AJ564931,AJ564932,AJ564933,AJ564934,AJ564935,AJ564936,AJ564938,AJ564939,AJ564942,AJ564945,AJ564946,AJ564947,AJ564959,AJ564937,BQ184367,DC350976,NG_016251,NM_001168360,NM_001168361,NM_001168362,NM_001168363,AJ564847 BAG61685,BAH14634,AAX56122,AAX56123,AAX56124,AAX56125,Q70LT4,Q70LT5,Q9BZA7,Q9P2X4,AAI67817,NP_116749,NP_116750,NP_116751,NP_055337,CAI41412,CAI41413,CAI41414,CAI41629,CAI41630,CAI41631,CAI41435,CAI41436,BAA90765,BAA90766,BAA92564,AAK82655,AAK82656,AAK13470,AAK13471,CAC13123,CAD92410,CAD92411,CAD92412,CAD92413,CAD92414,CAD92415,CAD92417,CAD92418,CAD92421,CAD92424,CAD92425,CAD92426,CAD92430,CAD92416,NP_001161832,NP_001161833,NP_001161834,NP_001161835 Hs.655673 PCDH-X|PCDH11|PCDHX|PCDHY OTTHUMP00000023642|OTTHUMP00000217565|protocadherin 11X|protocadherin on the X chromosome|protocadherin-11 X-linked|protocadherin-S protein-coding 1349634 PCDH11Y protocadherin 11 Y-linked This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its most closely related cadherin superfamily member is located in this homologous region on the X chromosome. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with N- and C-terminal variation. [provided by RefSeq] 1580863 18029348,19125366,18938061,17357069,16637074,16331680,14727141,14660691,12815422,12420223,11003707,10835267,10817752,10716726,10644456,16874762,19859901 83259 NG_011652,AC010081,AC010129,AC010685,AC010722,AC012067,AC012667,AA865592,AF277053,AF332216,AF332217,AJ276803,AJ564948,AJ564949,AJ564956,AJ564958,AJ564964,AJ564966,AJ564969,AJ564970,AJ564971,AK289676,NM_032972,NM_032971,NM_032973,AJ564960,AJ564961,AJ564962,AJ564963 NP_116754,AAL55729,AAK13468,AAK13469,CAC13122,CAD92427,CAD92429,CAD92435,CAD92437,CAD92440,CAD92441,CAD92442,BAF82365,Q6KER0,Q70LR4,Q70LR5,Q70LT6,Q9BZA8,AAI52898,NP_116753,NP_116755,CAD92431,CAD92432,CAD92433,CAD92434 Hs.661308 PCDH-PC|PCDH11X|PCDH22|PCDHY OTTHUMP00000033076|PCDH-Y|protocadherin 22|protocadherin Y|protocadherin on the Y chromosome|protocadherin prostate cancer|protocadherin-11 Y-linked|protocadherin-22|protocadherin-PC protein-coding 1348823 PCDH12 protocadherin 12 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq] 1580863 10380929,10716726,19054571,14702039,12975309,12477932,11063261,10835267,10817752,9651350 51294 NM_016580,AC005740,CH471062,AB026893,AF231025,AF240635,AK023785,AK024140,AK027282,AK226049,AK315029,AY358428,BC042634,BC052973 NP_057664,EAW61898,BAA95162,AAF61931,AAF73962,BAB14677,BAB14837,BAB55016,BAG37515,AAQ88794,AAH42634,AAH52973,Q7Z738,Q8IUP8,Q9NPG4 Hs.439474 VE-cadherin-2|VECAD2 VE-cad-2|VE-cadherin 2|protocadherin-12|vascular cadherin-2|vascular endothelial cadherin 2|vascular endothelial cadherin-2 protein-coding 1353280 PCDH15 protocadherin 15 This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq] 1580863 19913121,20628086,16369489,16385451,17903293,19107147,19816713,20182759,20201926,20379614,16679490,11398101,14570705,11487575,19240061,19183343,18719945,18519826,18484607,18463160,17706913,17277737,16887306,16807332,15660226,15537665,15028842,12711741,11138007,20966902,20538994,20801516 65217 EU718480,EU718481,EU718482,NM_033056,NM_001142763,NM_001142764,NM_001142765,NM_001142766,NM_001142767,NM_001142768,NM_001142769,NM_001142770,NM_001142771,NM_001142772,NM_001142773,AC013737,AC016817,AC024073,AC027671,AC051618,AL353784,AL356114,AL360214,AL365496,AL391356,CH471083,AK126923,AL834134,AW005431,AY029205,AY029237,AY388963,NG_009191 ACF76476,ACF76477,ACF76478,NP_149045,NP_001136235,NP_001136236,NP_001136237,NP_001136238,NP_001136239,NP_001136240,NP_001136241,NP_001136242,NP_001136243,NP_001136244,NP_001136245,CAH72389,CAH72390,CAM16784,CAM16785,CAM16786,CAM16787,CAM16788,CAM16789,CAM16790,CAM16791,CAM16792,CAH71768,CAH71769,CAM15116,CAM15117,CAM15118,CAM15119,CAM15120,CAM15121,CAM15122,CAM15123,CAM15124,CAM15125,CAI15200,CAI15201,CAM21536,CAM21537,CAM21538,CAM21539,CAM21540,CAM21541,CAM21542,CAM21543,CAM21544,CAH73916,CAM19866,CAM19867,CAM19868,CAM19869,CAM19870,CAM19871,CAM19872,CAM19873,CAM19874,EAW54151,EAW54152,BAG54399,CAD38850,AAK31581,AAK31804,AAR26468,Q96QU1,AAI56451 Hs.280209 CDHR15|DFNB23|DKFZp667A1711|USH1F OTTHUMP00000019624|OTTHUMP00000185545|OTTHUMP00000185546|OTTHUMP00000185548|OTTHUMP00000185549|OTTHUMP00000185553|OTTHUMP00000199503|cadherin-related family member 15|protocadherin 15|protocadherin-15 protein-coding 1312379 PCDH17 protocadherin 17 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq] 1580863 10716726,17672918,16344560,15489334,15342556,15057823,14702039,12477932,11082270,10835267,10817752,15905963,16713569,17464717,17978184,18353903,18718692,19449025,20180417,20200074 27253 NM_001040429,AL137503,AL137505,AL445216,AL445288,CH471124,AF029343,AK001134,AK289980,AK307545,BC028165,BF511144,BP286383,DA458702 NP_001035519,CAH71250,CAI17092,EAW52059,EAW52060,EAW52061,AAB84144,BAF82669,AAH28165,O14917 Hs.106511 PCDH68|PCH68 protocadherin 68|protocadherin-17|protocadherin-68 protein-coding 1314160 PCDH18 protocadherin 18 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq] 1580863 12477932,11716507,11549318,11082270,10997877,10835267,10817752,10716726 54510 AC144556,AC142278,CH471056,AB046782,AK292018,AK297122,AK298607,AL137471,AW244162,BC022227,BC071581,BC093815,BC143361,BX647786,NM_019035 NP_061908,EAX05139,EAX05140,EAX05141,BAB13388,BAF84707,BAG59628,BAG60791,CAB70755,AAH93815,AAI43362,CAI46014,Q5HYG2,Q9HCL0,Q9NT87 Hs.591691 DKFZp434B0923|KIAA1562|PCDH68L OTTHUMP00000220081|OTTHUMP00000220082|protocadherin 68-like protein|protocadherin-18 protein-coding 1354208 PCDH19 protocadherin 19 Protocadherins form a subfamily of calcium-dependent cell-cell adhesion molecules in the cadherin superfamily. Protocadherin-10 belongs to a subclass of protocadherins that share a highly conserved 17-amino acid cytoplasmic motif (Wolverton and Lalande, 2001 [PubMed 11549318]). PCDH19 belongs to the delta-2 protocadherin subclass of the cadherin superfamily (Dibbens et al., 2008) [PubMed 18469813].[supplied by OMIM] 21053371,19214208,18469813,16344560,16261168,15772651,14702039,11549318,10718198,9288105,8889548,5116697,2126489,20713952,12477932,19752159,20830798 57526 NM_001105243,NM_020766,AL355593,CH471115,AB037734,AK055951,AK096591,BC136628,BM975868,CR749278,DA500179,EF676096,AL590412,NG_021319,NM_001184880 NP_001098713,NP_065817,CAI41393,CAI41394,EAX02804,EAX02805,BAA92551,BAG53333,AAI36629,CAH18133,ABX58058,Q8TAB3,NP_001171809 Hs.4993 DKFZp686P1843|EFMR|KIAA1313 protocadherin-19 protein-coding 1314837 PCDH20 protocadherin 20 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq] 1580863 15489334,14702039,12477932,11082270,10835267,10817752,10716726,8889549,8012384 64881 AF169693,AK025871,AK094680,AK289924,AK314607,AL833830,BC027907,NM_022843,AL162575,AL592490,CH471124,Z60483,AA040057 AAF89690,BAB15265,BAG52909,BAF82613,BAG37177,CAD38690,AAH27907,Q8N6Y1,Q9H6J4,NP_073754,EAW52085,CAH73802 Hs.391781 FLJ22218|PCDH13 OTTHUMP00000204661|protocadherin 13|protocadherin-13|protocadherin-20 protein-coding 737398 PCDH21 protocadherin 21 This gene is a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, six cadherin repeat domains and a unique cytoplasmic region. This non-classical cadherin appears to be exclusively expressed in the mitral and tufted cells in the main and accessory olfactory bulbs of the brain, suggesting a possible role in the formation and maintenance of neuronal networks. [provided by RefSeq] 633048,1580863 16288196,12477932,11597768,16344560,16385451,20087419,20805371 633048 92211 NG_028034,NM_033100,AC022389,CH471142,AB053448,AK124752,AL080188,BC038799,AW129079,DA373888,DA957169,NM_001171971 NP_149091,EAW80361,EAW80362,EAW80363,EAW80364,BAB61905,BAG54089,CAH10732,AAH38799,Q96JP9,NP_001165442 Hs.137556 CORD15|DKFZp434A132|KIAA1775|PCDH21|PRCAD MT-protocadherin|cadherin-related family member 1|photoreceptor cadherin|protocadherin-21 protein-coding 1606556 PCDH24 protocadherin 24 This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. The kidney-expressed gene product has a signal peptide, nine cadherin repeat domains and a unique cytoplasmic region. This protocadherin represents a new candidate for tumor suppression. [provided by RefSeq] 12117771,19383367,15534908,14702039,12477932,11082270,9373149,8889549,8125298,15342556 54825 NM_017675,AC091934,CH471195,AA130780,AB047004,AK000131,AK000390,AK225217,AK315055,BC130282,BX478954,BP271197,NM_001171976 NP_060145,EAW85066,EAW85067,EAW85068,EAW85069,BAB40777,BAA90962,BAG37531,AAI30283,Q9BYE9,NP_001165447 Hs.4205 FLJ20124|FLJ20383|MGC163154|PC-LKC|PCDH24|PCLKC OTTHUMP00000223383|OTTHUMP00000223384|cadherin-related family member 2|protocadherin 24|protocadherin-24 protein-coding 1346973 PCDH7 protocadherin 7 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq] 1580863 20379614,10835267,10817752,10716726,10571067,9615233,19414679,17081983,15592455,15302935,12477932 5099 NM_001173523,NM_032457,NM_002589,NM_032456,AC097716,AC098595,AC107394,AC110766,AC112239,CH471069,AB006755,AB006756,AB006757,AI041228,BC020338,BC040983,BG289962 NP_001166994,NP_115833,NP_002580,NP_115832,AAY40944,EAW92861,EAW92862,EAW92863,EAW92864,EAW92865,BAA25194,BAA25195,BAA25196,O60245 Hs.702387,Hs.479439 BH-Pcdh|BHPCDH BH-protocadherin (brain-heart)|OTTHUMP00000218098|brain-heart protocadherin|protocadherin-7 protein-coding 735353 PCDH8 protocadherin 8 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq] 1580863 9787079,18408767,16713569,15489334,12884975,12477932,11230163,10835267,10817752,10716726,10383464,10380929,9315676 5100 NM_002590,NM_032949,AF018664,AL139085,CH471124,AF061573,AK293747,AK297652,AY013873,BC036025 NP_002581,NP_116567,CAI14110,CAI14111,EAW52049,EAW52050,EAW52051,AAC70009,BAG57169,BAG60019,AAK21986,AAH36025,O95206,ABM84265 Hs.19492 ARCADLIN|PAPC protocadherin-8 protein-coding 1314916 PCDH9 protocadherin 9 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal receptor that localizes to synaptic junctions and is putatively involved in specific neuronal connections and signal transduction. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes six cadherin domains and a transmembrane region. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 16344560,15057823,14702039,12477932,10835267,10817752,10716726,9787079,20379614,19913121,20628086 5101 NM_020403,NM_203487,NG_011876,AL136999,AL138682,AL138814,AL160254,AL355173,AL356305,AL450107,AL603863,CH471093,AF169692,AI300218,AK054661,AK057768,AL834258,BC136626,BC136627,BC144321,BC150296,BX537422,DA278856,R38168 NP_065136,NP_982354,CAI12502,CAM13771,CAM13066,CAH72612,CAM17290,CAH72758,CAH72759,CAM17491,EAW80499,AAF89689,CAD38933,AAI36627,AAI36628,AAI44322,AAI50297,CAD97664,Q5VT82,Q9HC56 Hs.654709 OTTHUMP00000018490|cadherin superfamily protein VR4-11|protocadherin-9 2303085 MAMTS48_H protein-coding 1352837 PCDHA1 protocadherin alpha 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,18496207,15372022,11230163,10835267,10817752,10737800,10716726,10662547,17474147 56147 NM_018900,NM_031411,NM_031410,NG_000016,AC005609,AC008468,AC010223,AF152305,AF152479,AF169695,BF089693 NP_061723,NP_113599,NP_113598,AAC34325,AAD43699,AAD43740,AAF89692,Q9Y5I3,AAI66697 Hs.199343 PCDH-ALPHA1 KIAA0345-like 13|OTTHUMP00000223677|PCDH-alpha-1|protocadherin alpha-1 protein-coding 1352620 PCDHA10 protocadherin alpha 10 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,15372022,11230163,10835267,10817752,10716726,10662547,12477932,17474147 56139 NM_018901,NM_031860,NM_031859,NG_000016,AC005609,AC008468,AC010223,AF152306,AF152475,AF169689,BC130447 ADR83338,NP_061724,NP_114066,NP_114065,AAC34317,AAD43700,AAD43736,AAF89329,AAI30448,Q9Y5I2 Hs.199343 CNR8|CNRN8|CNRS8|CRNR8|PCDH-ALPHA10 KIAA0345-like 4|OTTHUMP00000223681|OTTHUMP00000223682|PCDH-alpha-10|ortholog to mouse CNR8|protocadherin alpha-10 protein-coding 1349379 PCDHA11 protocadherin alpha 11 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 17474147,10380929,15372022,11230163,10835267,10817752,10716726,10662547,12477932 56138 AJ007609,BC136706,NM_018902,NM_031861,NG_000016,AC005609,AC008468,AC010223,CH471062,AF152307,AF152476 CAC22256,AAI36707,Q9Y5I1,NP_061725,NP_114067,AAC34316,EAW61995,EAW62003,AAD43701,AAD43737 Hs.199343 CNR7|CNRN7|CNRS7|CRNR7|PCDH-ALPHA11 KIAA0345-like 3|OTTHUMP00000223678|PCDH-alpha-11|ortholog of mouse CNR7|protocadherin alpha-11 protein-coding 1345752 PCDHA12 protocadherin alpha 12 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 17474147,16303743,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10380929,1380929 56137 NM_018903,NM_031864,NG_000016,AC005609,AC008468,AC010223,AF152308,AF152477,AK075556,AW134813,BC112280,BC113372 ADR83261,NP_061726,NP_114070,AAC34315,AAD43702,AAD43738,AAI12281,AAI13373,Q9UN75 Hs.199343,Hs.608548 MGC138485|MGC141932|PCDH-ALPHA12 KIAA0345-like 2|OTTHUMP00000223675|PCDH-alpha-12|protocadherin alpha-12 protein-coding 1342552 PCDHA13 protocadherin alpha 13 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 15372022,11230163,10835267,10817752,10716726,10662547,10380929 56136 NM_018904,NM_031865,NG_000016,AC005609,AC008468,AC010223,CH471062,AB208924,AF152309,AF152478 NP_061727,NP_114071,AAC34314,EAW61986,EAW62008,BAD92161,AAD43703,AAD43739,Q59H35,Q9Y5I0 Hs.199343 CNR5|CNRN5|CNRS5|CRNR5|PCDH-ALPHA13 KIAA0345-like 1|OTTHUMP00000205581|PCDH-alpha-13|ortholog of mouse CNR5|protocadherin alpha-13 protein-coding 1350988 PCDHA14 protocadherin alpha 14 pseudogene 11230163,10835267,10817752,10716726,10662547,10380929 26307 NG_000016,AC005609,AY013875 CNR3|CNRN3|CNRS3|CRNR3|PCDH-PSI4 pseudo 1315965 PCDHA2 protocadherin alpha 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 17474147,10380929,15489334,15372022,12665801,12477932,11230163,10835267,10817752,10716726,10662547 56146 NM_018905,NM_031495,NG_000016,AC005609,AC008468,AC010223,AF152310,AF152480,BC003126 NP_061728,NP_113683,AAC34324,AAD43704,AAD43741,AAH03126,Q9Y5H9 Hs.199343 PCDH-ALPHA2 KIAA0345-like 12|PCDH-alpha-2|protocadherin alpha-2 protein-coding 732264 PCDHA3 protocadherin alpha 3 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 19054571,17474147,10380929,15372022,12477932,11230163,10835267,10817752,10716726,10662547 56145 NM_031497,NM_018906,NG_000016,AC005609,AC008468,AC010223,AF152311,AF152481,BC069064,BC129807 NP_061729,AAC34323,AAD43705,AAD43742,AAH69064,NP_113685,AAI29808,Q9Y5H8 Hs.199343 MGC141669|PCDH-ALPHA3 KIAA0345-like 11|PCDH-alpha-3|protocadherin alpha-3 protein-coding 733347 PCDHA4 protocadherin alpha 4 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,16169070,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10612399 56144 NM_018907,NM_031500,NG_000016,AC005609,AC008468,AC010223,AB208925,AF152312,AF152482,AW161561,BC112102,BC113609 ADR83254,NP_061730,NP_113688,AAC34322,BAD92162,AAD43706,AAD43743,AAI12103,AAI13610,Q59H34,Q9UN74 Hs.199343 CNR1|CNRN1|CRNR1|MGC138307|MGC142169|PCDH-ALPHA4 KIAA0345-like 10|OTTHUMP00000223666|PCDH-alpha-4|ortholog of mouse CNR1|protocadherin alpha-4 protein-coding 1347310 PCDHA5 protocadherin alpha 5 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,15489334,15372022,12477932,11230163,10835267,10817752,10716726,10662547,17474147 56143 NM_018908,NM_031501,NG_000016,AC005609,AC008468,AC010223,AB208863,AF152313,AF152483,BC033735 NP_061731,NP_113689,AAC34321,BAD92100,AAD43707,AAD43744,AAH33735,Q59H96,Q9Y5H7 Hs.199343 CNR6|CNRN6|CNRS6|CRNR6|PCDH-ALPHA5 KIAA0345-like 9|PCDH-alpha-5|ortholog of mouse CNR6|protocadherin alpha-5 protein-coding 1344704 PCDHA6 protocadherin alpha 6 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,15489334,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10612399,17474147 56142 NM_018909,NM_031849,NM_031848,NG_000016,AC005609,AC008468,AC010223,AB209205,AF152314,AF152484,AF169694,BC019862,BC036674,BC042887,BC043441 NP_061732,NP_114037,NP_114036,AAC34320,BAD92442,AAD43708,AAD43745,AAF89691,AAH36674,Q59GA4,Q9UN73 Hs.199343,Hs.570901,Hs.599714,Hs.621225 CNR2|CNRN2|CNRS2|CRNR2|PCDH-ALPHA6 KIAA0345-like 8|PCDH-alpha-6|protocadherin alpha-6 protein-coding 1353324 PCDHA7 protocadherin alpha 7 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,15372022,11230163,10835267,10817752,10716726,10662547,17474147 56141 NM_018910,NM_031852,NG_000016,AC005609,AC008468,AC010223,AF152315,AF152485 NP_061733,NP_114040,AAC34319,AAD43709,AAD43746,Q9UN72,AAI48657,AAI56821,AAI56894 Hs.199343 CNR4|CNRN4|CNRS4|CRNR4|PCDH-ALPHA7 KIAA0345-like 7|PCDH-alpha-7|ortholog to mouse CNR4|protocadherin alpha-7 protein-coding 1346741 PCDHA8 protocadherin alpha 8 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 17474147,10380929,15372022,11230163,10835267,10817752,10716726,10662547,12477932 56140 NM_018911,NM_031856,NG_000016,AC005609,AC008468,AC010223,AF152316,AF152486,BC136749,BC136750 NP_061734,NP_114062,AAC34318,AAD43710,AAD43747,AAI36750,AAI36751,Q9Y5H6 Hs.199343 PCDH-ALPHA8 KIAA0345-like 6|PCDH-alpha-8|protocadherin alpha-8 protein-coding 1343466 PCDHA9 protocadherin alpha 9 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 9205841,17474147,15489334,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10380929 9752 NM_031857,NM_014005,NG_000016,AC005609,AC008468,AC010223,AB002343,AF152317,AF152487,AJ007610,AK314303,BC104802,BC104804 NP_114063,NP_054724,AAC34313,BAA20803,AAD43711,AAD43748,CAC22257,AAI04803,AAI04805,Q9Y5H5 Hs.199343 KIAA0345|PCDH-ALPHA9 KIAA0345-like 5|PCDH-alpha-9|protocadherin alpha-9 protein-coding 1353159 PCDHA@ protocadherin alpha cluster 10662547,10380929 56117 1353050 PCDHAC1 protocadherin alpha subfamily C, 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,11230163,10835267,10817752,10716726,10662547,12477932 56135 NM_018898,NM_031882,NG_000016,AC004776,AC010223,CH471062,AA601497,AF152303,AF152473,AJ007608,AW152471,BC136774,BC136785 NP_061721,NP_114088,EAW62010,AAD43697,AAD43734,CAC22255,AAI36775,AAI36786,Q9H158 Hs.199343 PCDH-ALPHA-C1 OTTHUMP00000205579|protocadherin alpha-C1 protein-coding 1346435 PCDHAC2 protocadherin alpha subfamily C, 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 10380929,14702039,12477932,11230163,10835267,10817752,10716726,10662547 56134 NM_018899,NM_031883,NG_000016,AC010223,AC010233,CH471062,AF152304,AF152474,AK123867,BC063288,BC104776,BC105111 NP_061722,NP_114089,EAW62000,EAW62005,AAD43698,AAD43735,AAH63288,AAI04777,AAI05112,Q6P4R2,Q9Y5I4 Hs.199343 MGC71598|PCDH-ALPHA-C2 OTTHUMP00000205580|protocadherin alpha-C2 protein-coding 1351100 PCDHACT protocadherin alpha constant 10380929,10662547 56119 1318719 PCDHB1 protocadherin beta 1 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 12477932,11322959,11230163,10835267,10817752,10716726,10380929 29930 NM_013340,NG_000017,AC010223,CH471062,AA448114,AF152488,BC112096,BC112098 NP_037472,EAW61985,AAD43749,AAI12097,AAI12099,Q9Y5F3 Hs.278950 MGC138301|MGC138303|PCDH-BETA1 PCDH-beta-1|protocadherin beta-1 protein-coding 1343718 PCDHB10 protocadherin beta 10 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,12231349,15489334,15340161,14702039,12975309,12477932,11230163,10835267,10817752,10716726,10380929,9110174,8619474 56126 NM_018930,NG_000017,AC005752,AF131761,AF152489,AF217748,AK056391,AY358720,BC031837 NP_061753,AAD20038,AAD43750,AAK51616,BAG51694,AAQ89082,AAH31837,O95883,Q9UN67 Hs.657953 PCDH-BETA10|PCHB10 PCDH-beta-10|protocadherin beta-10 protein-coding 1346313 PCDHB11 protocadherin beta 11 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 15489334,11322959,9182820,10380929,12231349,19054571,12477932,11230163,10835267,10817752,10716726 56125 AC005752,NM_018931,NG_000017,CH471062,AB209225,AF152490,AF217747,AK313428,BC112132,BC113611,D88795 NP_061754,EAW61972,BAD92462,AAD43751,AAK51615,BAG36220,AAI12133,AAI13612,BAA21565,O15200,Q59G84,Q9Y5F2,ADR83269 Hs.283084 ME2|MGC138337|MGC142171|PCDH-BETA11 PCDH-beta-11|cadherin ME2|protocadherin beta-11 protein-coding 1350553 PCDHB12 protocadherin beta 12 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 10380929,15489334,12477932,11322959,11230163,10835267,10817752,10716726 56124 NM_018932,NG_000017,AC005752,CH471062,AF152491,AF217746,AK316160,BC045637 NP_061755,EAW61971,AAD43752,AAK51614,BAH14531,AAH45637,Q9Y5F1 Hs.429820,Hs.728069 PCDH-BETA12 PCDH-beta-12|protocadherin beta-12 protein-coding 1313625 PCDHB13 protocadherin beta 13 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,12231349,15489334,14702039,12975309,12477932,11230163,10835267,10817752,10716726,10380929 56123 NM_018933,NG_000017,AC005752,CH471062,AF152492,AF217745,AK021915,AK292821,AK296151,AY358427,BC033068,BC051348,BC071934 NP_061756,EAW61970,AAD43753,AAK51613,BAB13935,BAF85510,BAG58890,AAQ88793,AAH33068,AAH51348,AAH71934,Q9HAB4,Q9Y5F0 Hs.283803 PCDH-BETA13 PCDH-beta-13|protocadherin beta-13 protein-coding 1322463 PCDHB14 protocadherin beta 14 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,12231349,15489334,12477932,11230163,10835267,10817752,10716726,10380929,9182820 56122 NM_018934,NG_000017,AC005752,CH471062,AF152493,AF217744,AI206913,AK074555,AK298296,AK301346,BC098144,BC099728,BC050417 NP_061757,EAW61969,AAD43754,AAK51612,BAG60554,BAG62894,AAH98144,AAH99728,Q9Y5E9 Hs.658497 MGC120065|PCDH-BETA14 PCDH-beta-14|protocadherin beta-14 protein-coding 1321168 PCDHB15 protocadherin beta 15 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 10380929,15489334,12477932,11322959,11230163,10835267,10817752,10716726 56121 NM_018935,NG_000017,AC005752,CH471062,AF152494,AF217742,AI473490,AK312794,BC038797 NP_061758,EAW61968,AAD43755,AAK51610,BAG35655,AAH38797,Q9Y5E8,ABM84241,ABM87629 Hs.130757 PCDH-BETA15 PCDH-beta-15|protocadherin beta-15 protein-coding 1343753 PCDHB16 protocadherin beta 16 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,12231349,15489334,14702039,12665801,12477932,11230163,10997877,10835267,10817752,10716726,10380929,9182820 57717 NM_020957,NG_000017,AC074130,AF282973,CH471062,AB046841,AF217757,AI926355,AK056460,AY013878,BC036062,D88794 NP_066008,AAG10030,EAW61975,BAB13447,AAF81914,BAG51717,AAK21988,AAH36062,BAA21564,O15199,Q9NRJ7,ABW03744 Hs.147674 KIAA1621|ME1|PCDH-BETA16|PCDH3X|PCDHB8a PCDH-beta-16|PCDHbeta 16|cadherin ME1|protocadherin beta 8a|protocadherin beta-16|protocadherin-3x protein-coding 1346282 PCDHB17 protocadherin beta 17 pseudogene 11322959,11230163,10835267,10817752,10716726,10380929,9182820 54661 NR_001280,NG_000017,AC005754,AF152527,AF217751,D88797 AAK51618,BAA21567,O15202,Q96T98 Hs.284307 ME4|PCDH-psi1 pseudo 1353169 PCDHB18 protocadherin beta 18 pseudogene 1580863 14702039,11322959,11230163,10835267,10817752,10716726,10380929 54660 NR_001281,NG_000017,AC005752,AF152528,AF217743,AK095496 AAK51611,BAG53070,Q96TA0 Hs.676071 PCDH-psi2 pseudo 1349085 PCDHB19P protocadherin beta 19 pseudogene 11322959,11230163,10716726,10380929 84054 NR_001282,NG_000017,AC005752,AY013876,AF329369 Hs.726674 PCDH-PSI5|PCDHB19 pseudo 1316874 PCDHB2 protocadherin beta 2 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,10380929,12231349,15489334,14702039,12477932,11230163,10835267,10817752,10716726 56133 NM_018936,NG_000017,AC005754,CH471062,AB209745,AF152495,AF217756,AK027526,AK314642,BC098347,BC098575,BE502304,BF206341 NP_061759,EAW61983,BAD92982,AAD43756,AAK51623,BAG37204,AAH98347,AAH98575,Q4KMG6,Q59ER6,Q9Y5E7 Hs.533023 MGC111392|PCDH-BETA2 PCDH-beta-2|protocadherin beta-2 protein-coding 1313041 PCDHB3 protocadherin beta 3 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,10380929,12231349,12477932,11230163,10835267,10817752,10716726 56132 NM_018937,NG_000017,AC005754,CH471062,AF152496,AF217755,AK313451,BC104817 NP_061760,EAW61981,AAD43757,AAK51622,BAG36239,AAI04818,Q2M3R2,Q9Y5E6 Hs.674730 PCDH-BETA3 PCDH-beta-3|protocadherin beta-3 protein-coding 1312238 PCDHB4 protocadherin beta 4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,10380929,12231349,15489334,12477932,11230163,10835267,10817752,10716726,18029348 56131 NM_018938,NG_000017,AC005754,CH471062,AF152497,AF217754,AK313640,BC098139,BC098346 NP_061761,EAW61980,AAD43758,AAK51621,BAG36398,AAH98139,AAH98346,Q9Y5E5 Hs.591250 PCDH-BETA4 PCDH-beta-4|protocadherin beta-4 protein-coding 1314555 PCDHB5 protocadherin beta 5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,12231349,15489334,14702039,12477932,11230163,10835267,10817752,10716726,10380929,17353931 26167 NM_015669,NG_000017,AC005754,CH471062,AB209393,AF134474,AF152498,AF217753,AK023190,AL117449,BC001186 NP_056484,EAW61979,BAD92630,AAP97251,AAD43759,AAK51620,CAB55933,AAH01186,Q59FR6,Q9Y5E4,ABM82799,ABM85987 Hs.119693 DKFZp586B0217|PCDH-BETA5 PCDH-beta-5|protocadherin beta-5 protein-coding 1321102 PCDHB6 protocadherin beta 6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,10380929,12231349,11230163,10835267,10817752,10716726 56130 NM_018939,NG_000017,AC005754,CH471062,AF152499,AF217752,AK299661,AK313482 NP_061762,EAW61978,AAD43760,AAK51619,BAG61578,BAG36266,Q9Y5E3,AAI48407,AAI52976 Hs.283085 PCDH-BETA6 PCDH-beta-6|protocadherin beta-6 protein-coding 1314071 PCDHB7 protocadherin beta 7 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq] 1580863 12477932,11322959,11230163,10835267,10817752,10716726,10380929,9373149,8125298 56129 NM_018940,NG_000017,AC005754,CH471062,AF152500,AF217750,AK024641,AK222560,AK222678,AK315054,AL834254,BC098574,BC130331,BC130333 ADR83114,NP_061763,EAW61977,AAD43761,AAK51617,BAD96280,BAD96398,BAG37530,CAD38929,AAH98574,AAI30332,AAI30334,Q4KMG7,Q53HA3,Q53HM0,Q8NDD4,Q9Y5E2 Hs.203830 MGC111391|MGC163205|PCDH-BETA7 PCDH-beta-7|protocadherin beta-7 protein-coding 1349292 PCDHB8 protocadherin beta 8 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 16344560,11322959,11230163,10835267,10817752,10716726,10380929,12477932 56128 NM_019120,NG_000017,AC005754,AC074130,AF282973,CH471062,AF152501,AU119840,BC136801 NP_061993,AAG10031,EAW61976,AAD43762,AAI36802,Q9UN66 Hs.287793 PCDH-BETA8|PCDH3I PCDH-beta-8|protocadherin beta-8|protocadherin-3i protein-coding 1345982 PCDHB9 protocadherin beta 9 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq] 1580863 11322959,12231349,15489334,12477932,11230163,10835267,10817752,10716726,10380929 56127 NG_000017,AC005752,AC074130,AF282973,CH471062,AB208959,AF152502,AF217749,BC100672,BC103494,BC105636,BC105640,NM_019119 NP_061992,AAG10032,EAW61974,BAD92196,AAD43763,AAF81913,AAI00673,AAI03495,AAI05637,AAI05641,Q3ZB85,Q59H00,Q9Y5E1 Hs.662726 MGC119555|MGC119556|PCDH-BETA9|PCDH3H PCDH-beta-9|protocadherin beta-9|protocadherin-3h protein-coding 1351531 PCDHB@ protocadherin beta cluster 10380929 56116 1348571 PCDHG@ protocadherin gamma cluster 10380929 56115 1353144 PCDHGA1 protocadherin gamma subfamily A, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929,20379614 56114 NM_018912,NM_031993,NG_000012,AC005366,AC005618,AC008781,AF152318,AF152507,BC112082,BC112084 NP_061735,NP_114382,AAD43712,AAD43768,AAI12083,AAI12085,Q2M273,Q9Y5H4 Hs.368160 MGC138287|MGC138289|PCDH-GAMMA-A1 protocadherin gamma-A1 protein-coding 1317979 PCDHGA10 protocadherin gamma subfamily A, 10 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56106 NM_032090,NG_000012,AC005366,AC005618,AC008781,CH471062,NM_018913,AF152319,AF152503,BC014509,BC093873,BC093875 NP_061736,NP_114479,EAW61935,EAW61965,AAD43713,AAD43764,AAH93873,AAH93875,Q52LL2,Q9Y5H3 Hs.368160 PCDH-GAMMA-A10 protocadherin gamma-A10 protein-coding 1349006 PCDHGA11 protocadherin gamma subfamily A, 11 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 7566098,15799819,11230163,10835267,10817752,10737800,10716726,10380929,12477932,20388442 56105 NM_018914,NM_032092,NM_032091,NG_000012,AC005366,AC005618,AC008781,CH471062,AA329824,AF152320,AF152504,AF152505,BC136781,BC171774,BE007760 NP_061737,NP_114481,NP_114480,EAW61934,EAW61937,AAD43714,AAD43765,AAD43766,AAI36782,AAI71774,Q9Y5H2 Hs.368160 PCDH-GAMMA-A11 protocadherin gamma-A11 protein-coding 1352537 PCDHGA12 protocadherin gamma subfamily A, 12 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 18029348,12975309,11230163,10835267,10817752,10716726,10380929,9628581,9199196 26025 NM_003735,NM_032094,NG_000012,AC005366,AC005618,AC008781,CH471062,AB000897,AB011160,AF152321,AF152506,AL589367,AY358946 NP_003726,NP_115265,EAW61945,EAW61961,BAA21135,BAA25514,AAD43715,AAD43767,AAQ89305,O60330,AAI72309 Hs.368160 CDH21|FIB3|KIAA0588|PCDH-GAMMA-A12 cadherin 21|cadherin-21|fibroblast cadherin FIB3|fibroblast cadherin-3|protocadherin gamma-A12 protein-coding 1345135 PCDHGA2 protocadherin gamma subfamily A, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929,20379614 56113 NM_032009,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152322,AF152508,AL536793,NM_018915,BC093871,BC104950 NP_061738,NP_114398,EAW61941,EAW61954,AAD43716,AAD43769,AAH93871,AAI04951,Q9Y5H1 Hs.368160 PCDH-GAMMA-A2 protocadherin gamma-A2 protein-coding 1349153 PCDHGA3 protocadherin gamma subfamily A, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929,20379614 56112 BC133708,NM_018916,NM_032011,NG_000012,AC005366,AC005618,AC008781,CH471062,AB208927,AF152323,AF152509,AF152510,BC115408,BC115409 AAI15410,AAI33709,Q59H32,Q9Y5H0,AAI67820,NP_061739,NP_114400,EAW61936,EAW61940,BAD92164,AAD43717,AAD43770,AAI15409 Hs.368160 PCDH-GAMMA-A3 protocadherin gamma-A3 protein-coding 1351804 PCDHGA4 protocadherin gamma subfamily A, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 11230163,10835267,10817752,10716726,10380929 56111 NM_018917,NM_032053,NG_000012,AC005366,AC005618,AC008781,AL832028,CH471062,AF152324,AF152511,AI805761 NP_061740,NP_114442,EAW61957,EAW61964,AAD43718,AAD43771,Q9Y5G9,AAI52813,AAI56731 Hs.368160 PCDH-GAMMA-A4 protocadherin gamma-A4 protein-coding 1323670 PCDHGA5 protocadherin gamma subfamily A, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929,9182820 56110 NM_018918,NM_032054,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152325,AF152512,BC104926,BC113460,D88796 NP_061741,NP_114443,EAW61938,EAW61947,AAD43719,AAD43772,AAI04927,AAI13461,BAA21566,O15201,Q9Y5G8 Hs.368160 CDH-GAMMA-A5|ME3|MGC142020|PCDH-GAMMA-A5 cadherin ME3|protocadherin gamma-A5 protein-coding 1343927 PCDHGA6 protocadherin gamma subfamily A, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56109 NM_032086,NG_000012,AC005366,AC005618,AC008781,CH471062,AB209178,AF152326,AF152513,BC109240,BC136702,BC136703,BC146651,NM_018919 AAI46652,Q59GD1,Q9Y5G7,NP_061742,NP_114475,EAW61929,EAW61931,BAD92415,AAD43720,AAD43773,AAI09241,AAI36703,AAI36704 Hs.368160 PCDH-GAMMA-A6 protocadherin gamma-A6 protein-coding 1312946 PCDHGA7 protocadherin gamma subfamily A, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 11230163,10835267,10817752,10737800,10716726,10380929,12477932 56108 NM_018920,NM_032087,NG_000012,AC005366,AC005618,AC008781,CH471062,AB208958,AF152327,AF152514,BC136747,BC136748,BF365422 NP_061743,NP_114476,EAW61943,EAW61963,BAD92195,AAD43721,AAD43774,AAI36748,AAI36749,Q59H01,Q9Y5G6 Hs.368160 PCDH-GAMMA-A7 protocadherin gamma-A7 protein-coding 1321718 PCDHGA8 protocadherin gamma subfamily A, 8 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 11230163,10835267,10817752,10716726,10380929,9205841 9708 NM_032088,NM_014004,NG_000012,AC005366,AC005618,AC008781,CH471062,AB002325,AF152328,AF152515,BC152415 NP_114477,NP_054723,EAW61932,EAW61942,BAA20785,AAD43722,AAD43775,AAI52416,Q9Y5G5,AAI60101 Hs.368160 KIAA0327|PCDH-GAMMA-A8 protocadherin gamma-A8 protein-coding 1345022 PCDHGA9 protocadherin gamma subfamily A, 9 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56107 NM_018921,NM_032089,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152329,AF152516,BC132769 NP_061744,NP_114478,EAW61958,EAW61960,AAD43723,AAD43776,AAI32770,Q9Y5G4 Hs.368160 PCDH-GAMMA-A9 protocadherin gamma-A9 protein-coding 1349950 PCDHGB1 protocadherin gamma subfamily B, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56104 NM_018922,NM_032095,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152330,AF152517,BC103926,BC103927,BC103928 NP_061745,NP_115266,EAW61952,EAW61955,AAD43724,AAD43777,AAI03927,AAI03928,AAI03929,Q3SY74,Q9Y5G3 Hs.368160 MGC119466|MGC119467|MGC119469|PCDH-GAMMA-B1 protocadherin gamma subfamily B, 1, isoform 2|protocadherin gamma-B1 protein-coding 1346439 PCDHGB2 protocadherin gamma subfamily B, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56103 NM_018923,NM_032096,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152331,AF152518,BC101805 NP_061746,NP_115267,EAW61939,EAW61950,AAD43725,AAD43778,AAI01806,Q9Y5G2 Hs.368160 MGC126854|PCDH-GAMMA-B2 protocadherin gamma-B2 protein-coding 1343116 PCDHGB3 protocadherin gamma subfamily B, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 11230163,10835267,10817752,10716726,10380929 56102 NM_018924,NM_032097,NG_000012,AC005366,AC005618,AC008781,AF152332,AF152519,BC150172,CH471062 NP_061747,NP_115268,AAD43726,AAD43779,AAI50173,Q9Y5G1,EAW61951 Hs.368160 PCDH-GAMMA-B3 protocadherin gamma-B3 protein-coding 1351676 PCDHGB4 protocadherin gamma subfamily B, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 9199196,12477932,11230163,10835267,10817752,10716726,10380929 8641 NM_003736,NM_032098,NG_000012,AC005366,AC005618,AC008781,CH471062,AB000896,AF152333,AF152520,BC112088,BC113607 NP_003727,NP_115269,EAW61924,EAW61927,BAA21134,AAD43727,AAD43780,AAI12089,AAI13608,Q9UN71 Hs.368160 CDH20|FIB2|MGC138293|MGC142167|PCDH-GAMMA-B4 cadherin 20|cadherin-20|fibroblast cadherin FIB2|fibroblast cadherin-2|protocadherin gamma-B4 protein-coding 1316625 PCDHGB5 protocadherin gamma subfamily B, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56101 NM_018925,NM_032099,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152334,AF152521,BC093877,BC093879 NP_061748,NP_115270,EAW61922,EAW61948,AAD43728,AAD43781,AAH93877,AAH93879,Q9Y5G0 Hs.368160 PCDH-GAMMA-B5 protocadherin gamma-B5 protein-coding 1347513 PCDHGB6 protocadherin gamma subfamily B, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 11230163,10835267,10817752,10716726,10380929 56100 NM_018926,NM_032100,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152335,AF152522 NP_061749,NP_115271,EAW61928,EAW61933,AAD43729,AAD43782,Q9H349,Q9Y5F9,AAI56638 Hs.368160 PCDH-GAMMA-B6 protocadherin gamma-B6 protein-coding 1344386 PCDHGB7 protocadherin gamma subfamily B, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 15489334,12477932,11230163,10835267,10817752,10716726,10380929,9182820 56099 NM_018927,NM_032101,NG_000012,AC005366,AC005618,AC008781,CH471062,AA418589,AF152336,AF152523,AW057773,BC051788 NP_061750,NP_115272,EAW61923,EAW61944,AAD43730,AAD43783,AAH51788,O15203,Q9Y5F8 Hs.368160 ME6|PCDH-GAMMA-B7 cadherin ME6|protocadherin gamma-B7 protein-coding 1348107 PCDHGB8P protocadherin gamma subfamily B, 8 pseudogene 11230163,10835267,10817752,10716726,10380929,20210993 56120 NR_001297,NG_000012,AC005618,AF152529 Hs.672506 PCDH-PSI3 pseudo 1344510 PCDHGB9P protocadherin gamma subfamily B, 9 pseudogene 11230163,10716726,10380929 84055 NG_000012,AC005618,AY013877 PSI6 pseudo 1349055 PCDHGC3 protocadherin gamma subfamily C, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 8508762,18029348,16751190,15489334,12477932,11230163,10835267,10817752,10716726,10380929,9865466,9360932,8719883 5098 NM_032403,NM_032402,NG_000012,AC005366,AC008781,AF052683,AF052684,AF052685,AF119570,CH471062,AF152337,AF152524,BC004321,BC006439,NM_002588,BC019299,BC026218,BC027451,BC027470,BC063437,BG765565,L11371,L11373 NP_002579,NP_115779,NP_115778,AAC08350,AAF03087,EAW61959,EAW61962,AAD43731,AAD43784,AAH04321,AAH06439,AAH19299,AAH26218,AAH27451,AAH27470,AAH63437,AAA36420,AAA75391,Q8TAJ2,Q9BR81,Q9BT64,Q9UKW1,Q9UN70,ABM84395,ABM87353 Hs.368160 PC43|PCDH-GAMMA-C3|PCDH2 cadherin-like 2|protocadherin 2|protocadherin 43|protocadherin gamma-C3|protocadherin-2|protocadherin-43 protein-coding 1346387 PCDHGC4 protocadherin gamma subfamily C, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 18029348,12477932,11230163,10835267,10817752,10716726,10380929 56098 NM_018928,NM_032406,NG_000012,AC005366,AC008781,CH471062,AF152338,AF152525,BC042650,BC101035,BC101036,BC101038 NP_061751,NP_115782,EAW61946,EAW61949,AAD43732,AAD43785,AAI01036,AAI01037,AAI01039,Q9Y5F7 Hs.368160 MGC119489|MGC24978|PCDH-GAMMA-C4 protocadherin gamma-C4 protein-coding 1353179 PCDHGC5 protocadherin gamma subfamily C, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq] 1580863 18029348,12477932,11230163,10835267,10817752,10716726,10380929 56097 NM_018929,NM_032407,NG_000012,AC005366,AC008781,CH471062,AF152339,AF152526,BC112081,BC112083 NP_061752,NP_115783,EAW61953,EAW61956,AAD43733,AAD43786,AAI12082,AAI12084,Q2M272,Q9Y5F6 Hs.368160 MGC138286|MGC138288|PCDH-GAMMA-C5 protocadherin gamma-C5 protein-coding 1349122 PCDHGCT protocadherin gamma constant 10380929 56118 1606685 PCDP1 primary ciliary dyskinesia protein 1 18039845,12477932,11181995,18839057,20379614 200373 NM_001029996,AC013275,AC069154,AC104817,CH471103,AK293665,AK304416,BC036530,AW611757 NP_001025167,EAW95221,EAW95222,BAG57111,BAG65247,AAH36530,Q4G0U5 Hs.496753 MGC33657 OTTHUMP00000203664|primary ciliary dyskinesia protein 1 protein-coding 1604812 PCF11 PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) 18086705,17606639,17081983,16344560,15489334,15302935,12477932,10048485,11060040,12226669,19110458 51585 NM_015885,AP000873,CH471076,AB020631,AF046935,AF086097,AK025103,AK302606,BC065384,BC110432,BC146778,CR595078,CR601694,DB053362 NP_056969,EAW75083,EAW75084,BAA74847,AAC03107,BAH13760,AAH65384,AAI10433,AAI46779,O94913,Q0D2H7 Hs.128959 KIAA0824 PCF11, cleavage and polyadenylation factor II subunit, homolog|PCF11p homolog|pre-mRNA cleavage complex 2 protein Pcf11|pre-mRNA cleavage complex II protein Pcf11 protein-coding 2293808 PCGEM1 prostate-specific transcript 1 (non-protein coding) 19186008,16569192,14724589,11050243,20407466 64002 NR_002769,AC013401,AF223389 Hs.546994 NCRNA00071 miscrna 1349943 PCGF1 polycomb group ring finger 1 PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM] 737633,1580863 11287196,16943429,17088287,16189514,15620699,15489334,15315754,12477932,18029348,19690564,17207965 737633 84759 NM_032673,AC005041,CH471053,AF087884,AK125742,BC004952,BU602498,AL049296 NP_116062,EAW99632,EAW99633,AAP97183,AAH04952,Q9BSM1,ADQ31892 Hs.316750 2010002K04Rik|FLJ43754|MGC10882|NSPC1|RNF3A-2|RNF68 RING finger protein 68|nervous system Polycomb-1|polycomb group RING finger protein 1 protein-coding 1352511 PCGF2 polycomb group ring finger 2 The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq] 8325509,18706886,17936708,17672918,17545584,17452456,17151361,17145810,16381901,16344560,15489336,15489334,12477932,12196719,12167701,11750047,11520462,11230166,11076863,12183370,16182291,16248985,19585577,20170541,19690564,19636380,19727227,20211142,20801102 7703 NM_007144,AC006449,CH471152,CS065980,AU123693,BC004858,BC024255,BX647429,CA421781,CR593412,CR603125,CR607079,CR608521,D13969 NP_009075,EAW60527,EAW60528,EAW60529,EAW60530,CAI84554,AAH04858,AAH24255,BAA03074,P35227,CAL37647 Hs.371617,Hs.713595 MEL-18|MGC10545|RNF110|ZNF144 DNA-binding protein Mel-18|polycomb group RING finger protein 2|ring finger protein 110|zinc finger protein 144 protein-coding 1344033 PCGF3 polycomb group ring finger 3 The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq] 16344560,15489334,14702039,12477932,9373149 10336 AC107464,AC139887,AL359562,CH471131,AA401257,AK057124,AK125801,AK225892,AK300290,AL832536,AU132917,NM_006315,BC028026,BC050044,BC061897,BC107061,BI758022,BQ882065,BX640894,BX648409,CA454695,CR605671,CR607501,CX761238,CX761943 NP_006306,EAW82651,EAW82652,EAW82653,EAW82654,EAW82655,EAW82656,BAG51868,BAG54250,BAG62047,CAD38631,AAI07062,Q3KNV8,Q8NDP9 Hs.144309,Hs.707307 DKFZp686D20235|DONG1|FLJ36550|FLJ43813|MGC129615|MGC40413|RNF3|RNF3A RING finger protein 3A|polycomb group RING finger protein 3|ring finger protein 3 protein-coding 1351153 PCGF5 polycomb group ring finger 5 737633 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863,8076819,16385451 737633 84333 NM_032373,AC026227,CH471066,AK055625,AL832003,AL832496,BC007377,BC044910,BC051845,BI464238,CB266840,AK303014 NP_115749,EAW50112,EAW50113,EAW50114,CAD89905,CAD91165,AAH07377,AAH51845,Q86SE9,CAL38502,BAH13878 Hs.500512 MGC16202|RNF159 RING finger protein 159|polycomb group RING finger protein 5|ring finger protein (C3HC4 type) 159 protein-coding 1353848 PCGF6 polycomb group ring finger 6 The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 8521824,18519679,18211895,17320162,16248985,15489334,15164054,14702039,12477932,12183370,12167161,11171983,12004135,19549727 84108 NM_001011663,AL591408,CH471066,AB047006,AK027885,AK290679,AK309105,BC007602,BC010235,CR606650,CR625113,NM_032154 NP_115530,NP_001011663,CAI16745,CAI16746,EAW49647,EAW49648,EAW49649,EAW49650,EAW49651,EAW49652,BAB40779,BAF83368,AAH07602,AAH10235,Q9BYE7,ABZ92150,ABZ92535 Hs.726497 MBLR|MGC15678|MGC17541|RNF134 Mel18 and Bmi1-like RING finger protein|polycomb group RING finger protein 6|ring finger protein 134 protein-coding 1350962 PCGF7P polycomb group ring finger 7 pseudogene 253272 NG_003076,AC073539 RNF134P1 pseudo 1601857 PCID2 PCI domain containing 2 17353931,17672918,16189514,15592455,15489334,15342556,15057823,14702039,12477932,20870947 55795 BP244753,CR596487,CR596556,CR600652,CR614396,CR614837,CR616322,CR619538,CR623501,NM_001127203,NM_018386,AL136221,AL137002,CH471085,AA779868,AF183426,AK000888,AK001185,AK001302,AK002167,AK023313,AK024478,AK098706,AK289462,AK309321,BC008975,BC016614,BC031246,NM_001127202 AAH31246,Q5JVF3,Q96H21,NP_001120674,NP_001120675,NP_060856,CAI13792,CAI13793,CAI13794,CAI41377,CAI41378,CAI41379,CAI41391,EAX09189,EAX09190,EAX09191,EAX09192,EAX09193,EAX09194,EAX09195,EAX09196,EAX09197,EAX09198,EAX09199,EAX09200,AAG09695,BAA91407,BAA91542,BAA91611,BAA92118,BAB14521,BAB15768,BAF82151,AAH08975,AAH16614 Hs.508769 DKFZp686C20226|F10|FLJ11305|FLJ99362|MGC16774|RP11-98F14.6 CSN12-like protein|OTTHUMP00000018755|OTTHUMP00000018756|OTTHUMP00000018759|OTTHUMP00000018761|PCI domain-containing protein 2 protein-coding 1321911 PCIF1 PDX1 C-terminal inhibiting factor 1 18294453,15489334,15121856,14702039,12565871,12477932,11780052,17126328,19060906,19682092 63935 NM_022104,AL162458,CH471077,AB050014,AK056553,AL137473,BC010005,BC013365,BQ020621,BQ684226,CR616229,AK299435 NP_071387,CAC10456,EAW75778,EAW75779,EAW75780,BAC45238,CAB70757,AAH10005,AAH13365,Q9H4Z3,ACE87754,ACE87073,BAH13031 Hs.716563 C20orf67 PDX-1 C terminus-interacting factor 1|phosphorylated CTD-interacting factor 1 protein-coding 1347922 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq] 2311645,2302809,2302971,2311641,2302850,2302802,2302970,2311639,2302851,2311640,2311642,2311643,1580863,1601241,1601239,1601233 11851336,14764811,18029348,19329064,19070910,19056482,19021757,18996102,18830724,18801732,18660489,18492826,18460190,17495004,17440948,17192490,16978381,16620271,16344560,16341674,19913121,20574532,20602615,20628086,20682687,20800603,16282543,16144962,16132948,15951444,15489334,15046742,14744869,12477932,12324453,12237288,11997389,11780052,11689615,8547315,8490617,8432541,8325643,2993287,1657985,1492743,19578796,19725958,20098747 2311645,2302809,2302971,2311641,2302850,2302802,2302970,2311639,2302851,2311640,2311642,2311643,1601241,1601239,1601233 5105 NM_002591,NG_008205,AL035541,AY794987,CH471077,L12760,U31519,AI635748,AK290802,AK300072,AK303806,AW007566,BC023978,BJ993061,BM758256,BM768055,BX648510,DB187814,L05144 NP_002582,CAB55863,AAV50001,EAW75514,EAW75515,AAA02558,AAA91026,BAF83491,BAG61876,BAG64760,AAH23978,AAA60084,P35558,ABM84444,ABM87496 Hs.1872 MGC22652|PEPCK-C|PEPCK1|PEPCKC PEP carboxykinase|phosphoenolpyruvate carboxykinase, cytosolic|phosphoenolpyruvate carboxykinase, cytosolic [GTP]|phosphoenolpyruvate carboxylase|phosphopyruvate carboxylase 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW177_H,BW178_H protein-coding 1322394 PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) This gene encodes a member of the phosphoenolpyruvate carboxykinase (GTP) family. The protein is a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of GTP. A cytosolic form encoded by a different gene has also been characterized and is the key enzyme of gluconeogenesis in the liver. The encoded protein may serve a similar function, although it is constitutively expressed and not modulated by hormones such as glucagon and insulin that regulate the cytosolic form. Alternatively spliced transcript variants have been described. [provided by RefSeq] 2302809,2302851,2302802,2302970,1580863,2302971 20877624,20682687,8645161,19587243,18660489,17097062,16132948,15489334,15315819,12916001,12477932,9657976,19521512 2302809,2302851,2302802,2302970,2302971 5106 NM_004563,NM_001018073,NG_008162,AL136295,CH471078,Y11484,AK129934,AK301400,AK307913,AK311710,AK316206,BC001454,BU623248,BX248272,CR456913,CR602594,CR608041,CR609997,CR611857,CR613166,CR616177,CR618266,X92720 NP_004554,NP_001018083,EAW66115,CAA72272,BAG62935,BAH14577,AAH01454,CAD62600,CAG33194,CAA63380,Q16822,Q6IB91 Hs.75812 PEPCK|PEPCK-M|PEPCK2 PEP carboxykinase|phosphoenolpyruvate carboxykinase [GTP], mitochondrial|phosphoenolpyruvate carboxylase|phosphopyruvate carboxylase protein-coding 1351500 PCLD polycystic liver disease 5107 69449 PCLO piccolo (presynaptic cytomatrix protein) Synaptic vesicles dock and fuse in the active zone of the plasma membrane at chemical synapses. The presynaptic cytoskeletal matrix (PCM), which is associated with the active zone and is situated between synaptic vesicles, is thought to be involved in maintaining the neurotransmitter release site in register with the postsynaptic reception apparatus. The cycling of synaptic vesicles is a multistep process involving a number of proteins (see MIM 603215). Among the components of the PCM that orchestrate these events are Bassoon (BSN; MIM 604020), RIM (RBBP8; MIM 604124), Oboe, and Piccolo (PCLO).[supplied by OMIM] 1580863 10508862,19065144,18647954,15489334,12853948,12690205,12477932,12175852,10707984,9847074,9628581,8900486,12473661,14734538,20567237,20677014,19546850,19942622,20201926,20351715,20379614 27445 NM_014510,AC004006,AC004082,AC004886,AC004903,AC080093,AC093461,CH236949,AB011131,AI692861,AK125999,AK297315,BC001304,BC108289,BC122565,BC125271,BE538315,BG913494,NM_033026,BX649041,CR612833,CR749552,DN990884,DV080249,DV080679,Y19188 NP_149015,NP_055325,AAB97937,AAD21789,EAL24187,EAL24188,BAA25485,BAC86386,BAG59780,AAH01304,AAI08290,AAI22566,AAI25272,CAH18351,CAB60727,Q08E72,Q32P40,Q68D69,Q6ZU41,Q9Y6V0 Hs.12376 ACZ|DKFZp779G1236 OTTHUMP00000206818|OTTHUMP00000207697|aczonin|presynaptic cytomatrix protein|protein piccolo protein-coding 1349730 PCM1 pericentriolar material 1 1580863 20360304,16712791,11076968,12221128,12852856,16462731,18000879,19447967,20152126,20379614,20468070,7790358,15107855,17574030,14520415,8120099,19455170,19048012,18772192,18762586,18594780,17081983,16964243,16943179,16894060,16769584,16565220,16424865,16291865,16270321,16189514,16091753,16034466,15805263,15659651,15489334,15345747,15302935,15184884,15144186,14702039,12477932,12403812,11597177,11171385,10980597,10737800,9361024,7698772,18029348,20734064 5108 AC087273,NM_006197,AC087625,CH471080,AA931266,AF068293,AI810388,AI924817,AK091406,AK295856,AK301727,AK302378,AK307583,AL705025,AL712077,AW080255,AW237120,AW501568,BC000453,BC027477,BC065022,BC133052,BC140946,BF994051,BG898673,BI966701,BQ879089,BU166050,CB157569,CD704264,L27841,NG_027690 NP_006188,EAW63796,EAW63797,EAW63798,AAF65182,BAC03656,BAG58662,BAG63193,BAG63697,AAH00453,AAH27477,AAH65022,AAI33053,AAI40947,AAA60120,Q15154,Q9P1R8 Hs.491148 PTC4 PCM-1|hPCM-1|pericentriolar material 1 protein protein-coding 733720 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase Three classes of protein carboxyl methyltransferases, distinguished by their methyl-acceptor substrate specificity, have been found in prokaryotic and eukaryotic cells. The type II enzyme catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to the free carboxyl groups of D-aspartyl and L-isoaspartyl residues. These methyl-accepting residues result from the spontaneous deamidation, isomerization, and racemization of normal L-aspartyl and L-asparaginyl residues and represent sites of covalent damage to aging proteins PCMT1 (EC 2.1.1.77) is a protein repair enzyme that initiates the conversion of abnormal D-aspartyl and L-isoaspartyl residues to the normal L-aspartyl form.[supplied by OMIM] 729481,1580863 20471030,18029348,18582870,17353931,8074695,3355545,1339271,19161160,19110265,18381200,17167531,16256389,15489334,12943661,12477932,11912212,11847284,11792715,10496068,10343128,8914929,7592526,3167043,2684970,1998518,1478665,16169070,17207965,20800603,19913121,20628086 729481 5110 AL355312,CH471051,S73902,S73903,S73905,U49740,AK098739,AK129778,AK289724,AK304532,BC007501,BC008748,BC018569,BX438393,CA441980,CR590587,CR591895,CR594435,NM_005389,CR597328,CR605853,CR607882,CR615194,CR615792,CR619144,CX786396,D13892,D25545,D25546,D25547,DC356391,M93008,M93009 NP_005380,CAH72862,CAH72863,EAW47786,EAW47787,EAW47788,AAC60639,AAC60640,AAC60641,AAB38386,BAF82413,BAH14208,AAH07501,AAH08748,BAA02991,BAA05028,BAA05029,BAA05030,AAA90934,AAA90933,P22061,ADQ32618 Hs.279257 L-isoaspartyl protein carboxyl methyltransferase|L-isoaspartyl/D-aspartyl methyltransferase|OTTHUMP00000017397|OTTHUMP00000017398|OTTHUMP00000017400|PIMT|protein L-isoaspartyl/D-aspartyl methyltransferase|protein-L-isoaspartate(D-aspartate) O-methyltransferase|protein-beta-aspartate methyltransferase protein-coding 1602190 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 15489334,14702039,12477932,20379614 115294 NM_052937,AC090186,AC103769,CH471068,AF293366,AK056952,AK304196,AL833027,BC010693,BC017677,BC032670,BP418683,BX640885,CR594752,AK304332 NP_443169,EAW86710,EAW86711,EAW86712,EAW86713,AAG10068,BAB71324,BAG65076,CAH56272,AAH10693,AAH32670,CAE45939,Q658R8,Q96MG8,Q9HAZ8,BAH14163 Hs.671268 FLJ10883 protein-L-isoaspartate O-methyltransferase domain-containing protein 1 protein-coding 4109800 PCMTD1P2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 2 100287647 XM_002343473,XM_002344895,XM_002348253 XP_002343514,XP_002344936,XP_002348294 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 2 protein-coding 4110674 PCMTD1P3 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 3 100422595 CH236948,AC008176,NG_026445 pseudo 1313858 PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 16344560,15489334,14702039,12477932,11780052,10470851 55251 NM_018257,NM_001104925,AL121581,AL137028,CH471077,AK001745,AK074436,AK126700,BC032332,BC033665,BC040945,BC045775,CA443672,CR603851,DB224815 NP_060727,NP_001098395,CAC17006,EAW75152,EAW75153,EAW75154,BAA91877,BAC86648,AAH32332,AAH33665,AAH40945,AAH45775,Q6PIM4,Q9NV79 Hs.473317 C20orf36|FLJ10883|KIAA0835|KIAA1050 chromosome 20 open reading frame 36|protein-L-isoaspartate O-methyltransferase domain-containing protein 2 protein-coding 732094 PCNA proliferating cell nuclear antigen The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq] 2315007,2315009,2315011,2315013,2315014,2315012,2306716,2315010,729592,2315008,2292498,1580863 12786946,12782299,12766176,12633936,12632497,12532471,12522211,12515622,12479101,12477932,12452062,12452045,12439914,12403614,12393188,12390713,12382578,12368291,12354094,12237462,12226657,12220650,12171929,12125971,12088102,12081642,12063248,12045192,12015309,11994305,11986310,11968016,11929879,11896603,11877408,11864421,11805113,11784855,11780052,11741962,11724965,11682605,11601988,11595739,12930846,12893285,11593007,11585903,11578332,11559705,11554927,11430825,11411798,11376153,11313979,11310559,11274057,11268218,11254741,11239001,11092888,11077446,11022036,8103281,8101826,8093561,7973727,7949095,7908906,7821789,7673244,7673186,7478510,2882507,2882422,2569765,1979311,1975809,1477073,1313560,15050687,18162470,18162579,12853968,16189514,11350925,18954305,9443979,8259215,12192049,10353443,10888872,10973963,7784094,10858286,11302688,7780738,9178907,9705499,8647134,9632134,8662825,12124778,9546435,9467962,19125419,19104052,19067003,19012493,19001268,18949048,18948756,18853184,18845679,18799611,18794347,18765913,18719106,18676680,18669164,18662981,18604718,18521065,18509272,18498247,18481002,18451105,18448427,18353733,18326858,18321066,18319261,18316726,18312749,18284681,18256758,18184650,18072009,18032376,17982625,17932049,17880707,17720188,17564317,11005803,9305916,15225546,15358233,2565339,9111189,15504738,9822671,11473323,15494374,19424044,19342888,19339270,19237606,19221475,19208623,19156526,19130399,17525639,17507928,17274954,17203305,17167529,17164758,17115032,17108083,17106521,17063386,16934511,16888766,16888649,16888288,16861906,16861890,16710452,16609022,16584090,16552335,16551699,16510448,16508013,16438930,16407252,16407242,16388758,16227586,16226749,16216562,16216273,16204460,16201313,16195237,16124066,16101161,16000169,15967114,15805117,15777783,15772596,15754413,15681588,15647383,15638382,15638377,15635413,15617346,15616578,15595847,15572421,15543136,15536154,15489334,15359278,15342632,15221970,15161643,15149598,15107487,15033825,15000866,14871894,14871261,14729473,14669354,14657243,14642618,14612290,12964161,12947108,12937166,10978339,10930425,10871373,10828065,10648606,10559261,10463569,10455148,10408173,10393198,10219083,10051561,9927044,9751713,9667749,9570268,9566895,9563011,9552415,9545252,9465025,9396813,9302295,9228079,9092549,9087533,8999859,8995762,8876181,8861969,8861913,8858149,8673466,18839537,20580881,20729856,21035370,18029348,19730436,20826785,16357261,16611994,19834596,19845771,20823236,20932471,16463680,20460379,10477523,14558955,15924676,16174846,16482215,16616141,16763556,16826239,16964240,17148452,17274640,17298749,17395554,17588519,17927850,17955473,18279620,19170196,19351509,19419956,19460716,19481339,19523882,19536092,19550124,19625176,19628465,19692168,19704162,19789190,19822659,19885588,19950226,20004149,20029092,20061190,20064529,20071335,20085707,20128380,20150366,20226869,20350215,20394503,20453000,20496165,20522537,19443450,20528769,20733054,20613874,20849852,20423048,19714462,20574454,17828505,19851886 2315007,2315009,2315011,2315013,2315014,2315012,2306716,2315010,729592,2315008,2292498 5111 NM_002592,NM_182649,AF527838,AL121924,AY310162,AY310163,AY310164,AY310165,CH471133,J04718,J05614,AK300558,AK313286,BC000491,BC062439,BG612192,BU626265,CB990423,CR536501,CR541799,CR617056,CR617091,CR619580,D28458,M15796 NP_002583,NP_872590,AAM78556,CAC27344,AAP58729,AAP58730,AAP58731,AAP58732,EAX10428,EAX10429,EAX10430,AAA60040,BAG62264,BAG36094,AAH00491,AAH62439,CAG38740,CAG46598,BAA05824,AAA35736,P12004,Q6FHF5,Q6FI35,Q7Z6A0,Q7Z6A1,Q7Z6A2,Q7Z6A3,ABM82329,ABM85507 Hs.147433 MGC8367 DNA polymerase delta auxiliary protein|cyclin|proliferating cell nuclear antigen protein-coding 2312693 PCNAAS PCNA antisense RNA (non-protein coding) 10488129 100302739 AL121924,NR_028370 PCNA-AS|PCNAAS miscrna 1344067 PCNAP proliferating cell nuclear antigen pseudogene 2569765 5113 NG_000865,AL034410 pseudo 1345270 PCNAP1 proliferating cell nuclear antigen pseudogene 1 8995762 359806 CR743211,NR_028270,AP002026,D17326 Hs.537400 p1PCNA pseudo 1348291 PCNAP2 proliferating cell nuclear antigen pseudogene 2 8995762 359805 NG_002901,AP002026,D17327 pF2PCNA pseudo 1603975 PCNP PEST proteolytic signal containing nuclear protein 12176013,14741369,15489334,12477932,9373149,8125298 57092 CR610067,CR627371,AC073861,CH471052,AB037675,AK025551,AK098760,AK222978,AK314629,AL110143,BC013916,BC022001,BC107796,BX647886,CR592257,NM_020357,CR601783 CAH10470,Q53GF3,Q8WW12,ABM81725,ABM84879,NP_065090,EAW79790,EAW79791,EAW79792,EAW79793,EAW79794,BAB03501,BAD96698,BAG37194,AAH13916,AAH22001 Hs.275865 DKFZp781I24156 PEST proteolytic signal-containing nuclear protein|PEST-containing nuclear protein protein-coding 2303323 PCNPP PEST containing nuclear protein pseudogene 654427 NG_009494,AC137055 pseudo 1317411 PCNT pericentrin The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. [provided by RefSeq] 1580863 15337773,19546241,19251251,19204726,18029348,20567258,20676397,18701509,18174396,18157127,17884020,16565220,16251193,15342556,15094396,14702039,12906865,12477932,12221128,12168954,11171385,10830953,10823944,9455477,8812505,14767062,19191256,18955030,10893222,10753751,11076968,12852856,16198290,16462731,16980960,19448849,19937158,20508983,7790358,20599736 5116 NM_006031,NG_008961,AP000335,AP000336,AP000337,AP000471,AP001477,CH471079,AB007862,AF515282,AK024009,AK093923,AK296731,AW452809,BC035913,BP311784,BP312870,CR626553,DC345793,U52962,HI574036 NP_006022,EAX09277,EAX09278,EAX09279,EAX09280,EAX09281,BAA23698,AAP46636,BAB14772,BAC04252,BAG59318,AAH35913,AAD10838,O95613,Q8IWJ7,Q9H848,CBX47507 Hs.474069 KEN|MOPD2|PCN|PCNT2|PCNTB|PCTN2|SCKL4 kendrin|pericentrin|pericentrin (kendrin)|pericentrin B|pericentrin-2|pericentrin-380|pericentrin-B protein-coding 1352404 PCNX pecanex homolog (Drosophila) 1580863 19240061,15777640,15489334,14702039,12508121,12477932,12168954,10231032,9872452,9244429,20379614,19336002 22990 NM_014982,AC004817,AC004825,AC005230,AL445903,CH471061,AB018348,AB023212,AF233450,AK027062,AK127570,AW137672,BC017076,BC033122,BC140784,BC152474,BC167161,CR625027 NP_055797,EAW81052,EAW81053,EAW81054,EAW81055,BAA34525,BAA76839,AAK82958,BAG54525,AAH17076,AAH33122,AAI40785,Q05BT4,Q96RV3,AAI66691 Hs.446559 FLJ23409|FLJ45663|KIAA0805|KIAA0995|PCNXL1 pecanex-like 1|pecanex-like protein 1 protein-coding 1343290 PCNXL1 pecanex-like 1 (Drosophila) 23690 1605048 PCNXL2 pecanex-like 2 (Drosophila) 20379614,14702039,12477932,12140758,9455477,19913121,20628086 80003 BC014639,NM_014801,AL122003,AL133289,AL133291,AL133380,AL139342,AL359819,CH471098,AB007895,AK021445,AK055374,AK074078,AK090784,AK092353,AK097229,AK307812,BC008300,CT004972,DR731333 AAH08300,NP_055616,CAI22240,CAI22241,CAI22872,CAI22873,CAI18866,CAI18867,EAW69982,EAW69983,EAW69984,EAW69985,EAW69986,BAA23708,BAB13826,BAG51507,BAB84904,BAG52229,A6NKB5 Hs.370605 FLJ11383|KIAA0435 pecanex-like protein 2 protein-coding 1602160 PCNXL3 pecanex-like 3 (Drosophila) 19124506,15146197,19913121,20628086 399909 NM_032223,AP001362,AA426047,AK308625,BE735110,BU616089,BX640978,CA489689,CN262095,CN281656,CR996285,DY654455 NP_115599,CAE45990,Q9H6A9 Hs.380801 FLJ22427 pecanex-like protein 3 protein-coding 733466 PCOLCE procollagen C-endopeptidase enhancer Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq] 1580863 12393284,12105202,10625689,9933570,9799793,8824813,7523404,19361460,18350290,18164932,17602227,17446170,16507574,15817489,15489334,12670942,12486138,12477932,12393877,19801683,20207734,20729553 5118 CR605587,CR605859,CR606654,CR606927,CR607368,CR609011,CR609482,CR610789,CR612431,CR613773,CR614060,CR618202,CR621387,CR621466,CR621506,CR622433,CR623834,CR623911,CR625397,L33799,AC099394,AF053356,AF083655,CH236956,CH471091,AB008549,AK298364,AK313748,BC000574,BC033205,BI837971,CR592494,CR592766,CR593107,CR593766,CR595433,CR596385,CR599129,CR603610,NM_002593 AAA61949,Q15113,ABM82849,ABM86034,NP_002584,AAC78800,AAD16041,EAL23825,EAW76515,BAA23281,BAG60606,BAG36488,AAH00574,AAH33205 Hs.202097 PCPE|PCPE1 PCPE-1|procollagen C-endopeptidase enhancer 1|procollagen C-proteinase enhancer 1|procollagen COOH-terminal proteinase enhancer 1|procollagen, type 1, COOH-terminal proteinase enhancer|type 1 procollagen C-proteinase enhancer protein|type I procollagen COOH-terminal proteinase enhancer protein-coding 1346123 PCOLCE2 procollagen C-endopeptidase enhancer 2 1580863 16303743,15489334,15340161,12975309,12477932,12393877,12063410,11597177,10873381,9373149,8125298,16344560,19237735 26577 NM_013363,AC021074,CH471052,AF098269,AK075478,AK223633,AK315121,AY035400,AY358557,BC006265,CR536570,CR601643,CR608532,CD366192,DA555576 NP_037495,EAW78961,EAW78962,AAF04621,BAG52150,BAD97353,BAG37576,AAK63128,AAQ88921,CAG38807,Q53EK6,Q9UKZ9,AAI52797 Hs.8944 PCPE2 OTTHUMP00000214784|procollagen C-endopeptidase enhancer 2|procollagen C-proteinase enhancer 2|procollagen COOH-terminal proteinase enhancer 2 protein-coding 1353951 PCOS1 polycystic ovary syndrome 1 5120 1602383 PCOTH prostate collagen triple helix 16344560,15930275,12477932 542767 NM_001014442,NM_001135816,AL445985,AB113650,BC015452,BC073902,BC132842,BC132846,BC142999,DA867579 NP_001014442,NP_001129288,BAD93185,Q58A44,AAI40048 Hs.642624 prostate collagen triple helix protein|protein PCOTH protein-coding 1314709 PCP2 Purkinje cell protein 2 737633 16298104,15489334,12477932,12399102,10196137 737633 126006 NM_174895,AC008763,AY091633,CH471139,AK130855,BC025387,BC038715,BX647746 NP_777555,AAN52488,EAW69019,AAH25387,AAH38715,Q8IUH7,Q8IVA1 Hs.591400 DKFZp686M0187|FLJ27345|GPSM4|L7|MGC41903 Purkinje cell protein 2 homolog|Purkinje cell-specific protein L7 protein-coding 731616 PCP4 Purkinje cell protein 4 1580863 8914602,16780588,15489334,14551202,12477932,10830953,9697113,9345904,8931698,20379614 5121 NM_006198,AF064857,AL163281,CH471079,U53707,U53708,U53709,AF416716,AK289964,AM183336,BC013791,BQ287895,CR450319,U52969,X93349 NP_006189,AAC23994,CAB90443,EAX09622,EAX09623,EAX09624,EAX09625,AAC00024,AAL16810,BAF82653,CAJ70630,AAH13791,CAG29315,AAB09033,CAA63724,P48539,Q6ICS4 Hs.80296 PEP-19 Purkinje cell protein 4|brain specific polypeptide PEP19|brain-specific antigen PCP-4|brain-specific polypeptide PEP-19 protein-coding 1602138 PCP4L1 Purkinje cell protein 4 like 1 12477932,19284880,16710414,15489334,15146197,15053978 654790 NM_001102566,AL590714,AL592295,BC028905,BC067884,BC147003,BC147004,CD237602,CN283207 NP_001096036,AAI47004,AAI47005,A6NKN8 Hs.433150 IQM1 OTTHUMP00000223330|PCP4-like protein 1|Purkinje cell protein 4-like protein 1 protein-coding 734345 PCSK1 proprotein convertase subtilisin/kexin type 1 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, prorenin, proenkephalin, prodynorphin, prosomatostatin and progastrin. Mutations in this gene are thought to cause obesity. This encoded protein is associated with carcinoid tumors. The use of alternate polyadenylation sites has been found for this gene. Multiple alternatively spliced transcript variants have been described for this gene but their full length nature is not known. [provided by RefSeq] 1642015,1357925,2308889,2308918,2308934,2308929,2308931,2308899,2308900,2308935,2308905,2308932,1600414,1601276,2308898,2308919,2308920,2308930,2298715,2308904,737721,1601274,1580863,1357926 8666140,8557106,7797529,3542996,3053705,2061332,1765368,1605851,1597471,1547893,8995623,8940009,8163529,7639757,11113628,20734064,10037747,16344560,16928730,19339735,19528091,19628676,19641380,19875984,19876004,20106974,20498726,20534142,9207799,8397508,19164386,19034419,18604207,18549351,18096669,17990211,17917309,17595246,16644867,16293189,15807527,15127203,15126519,14617756,14614908,14574455,12715715,12477932,12147787,12147786,12126783,11739459,11720250,11435430,11246872,10931181,10900462,10771309,10530621,10391209,10087454,9521468,9213372,8916141,19913121,20571754,20628086,4368999 1642015,1357925,2308889,2308918,2308934,2308929,2308931,2308899,2308900,2308935,2308905,2308932,1600414,1601276,2308898,2308919,2308920,2308930,2298715,2308904,737721,1601274,1357926 5122 DA192592,NG_021161,NM_001177875,NM_001177876,NM_000439,AC008951,AC108107,CH471084,D73407,U24128,AB208874,AK303888,AK308575,BC031211,BC130295,BC136486,M90753,X64810 NP_001171346,NP_001171347,NP_000430,EAW96062,EAW96063,BAA11133,AAA73788,BAD92111,BAH14073,AAI30296,AAI36487,AAA59918,CAA46031,P29120,Q59H85 Hs.78977 BMIQ12|NEC1|PC1|PC3|SPC3 NEC 1|OTTHUMP00000222725|neuroendocrine convertase 1|prohormone convertase 1|prohormone convertase 3 2289249 BW90_H protein-coding 737617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor Members of the subtilisin-like proprotein convertase family process latent precursor proteins into their biologically active products. The protein encoded by this gene appears to function as an endogenous inhibitor of proprotein convertase subtilisin/kexin type 1. [provided by RefSeq] 69973,1642360,1642350,1642351,1642352,1580863 18948394,10632593,15489334,14746899,12914799,12477932,11719503,11435430 69973,1642360,1642350,1642351,1642352 27344 NM_013271,AF196971,CH471224,AF181562,BC002851,BC094731,CR605647 NP_037403,EAW50742,AAF22643,AAH02851,Q9UHG2,ABM84451 Hs.522640 PROSAAS|SAAS granin-like neuroendocrine peptide|pro-SAAS|proSAAS|proprotein convertase 1 inhibitor protein-coding 736345 PCSK2 proprotein convertase subtilisin/kexin type 2 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, proenkephalin, prodynorphin and proluteinizing-hormone-releasing hormone. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1357926,2308936,1581731,1580863 8034613,7722516,19260141,18096669,17618154,16293189,15585599,15489334,14702039,14614908,12477932,11780052,11720250,11439082,11246872,10931181,10900462,10530621,9467579,9359835,8661740,8557106,8276855,7983775,3053705,2154467,1765368,1594602,10965896,7913882,7626024,9020868,10037747,19339735,19628676,19724895,19851296,20198315,20379614,16344560,20501680,21102462,20036365 1357926,2308936,1581731 5126 AAB32656 AL031664,AL031675,AL121779,AL359511,CH471133,M95960,M95971,S75955,U73595,AK091505,AK294200,AK312341,NM_002594,BC001905,BC005815,BC040546,J05252,BM893758,DA147868,DB173053,NM_001201528,NM_001201529 NP_002585,CAB89428,CAI21690,CAA21069,CAI22648,CAB96732,CAI19155,CAC34957,CAI20085,EAX10279,EAX10280,EAX10281,AAA59919,AAD14202,AAC51862,BAG57514,BAG35262,AAH05815,AAH40546,AAA60032,AAB32656,P16519,Q8IWA8,Q9UM69,ABM83601,ABM86843,NP_001188457,NP_001188458 Hs.315186 NEC 2|NEC-2|NEC2|PC2|SPC2 KEX2-like endoprotease 2|NEC 2|OTTHUMP00000040511|neuroendocrine convertase 2|prohormone convertase 2|proprotein convertase 2|subtilisin-like prohormone convertases protein-coding 1345180 PCSK4 proprotein convertase subtilisin/kexin type 4 Proprotein convertases, including PCSK4, are calcium-dependent serine proteases related to bacterial subtilisins and to yeast kexin. These enzymes process precursor proteins to their active forms by selective cleavage of the polypeptide at sites following paired basic amino acids. In mammals, this family comprises PC1 (MIM 162150), PC2 (MIM 162151), PC4, PC5 (MIM 600488), furin (FUR; MIM 136950), and PACE4 (MIM 167405). Substrates for these enzymes range from prohormones to precursors for growth factors to cell surface receptors and viral surface glycoproteins (Cao et al., 2001 [PubMed 11776387]).[supplied by OMIM] 19038270,16040806,15489334,14702039,12975309,12477932,11776387,11193847,10900462,9660958,9482861,8889548,7819324,7782070,19913121,20628086 54760 NM_017573,AC027307,CH471139,AA453604,AK057235,AK302079,AL043305,AL133566,AY358963,BC036354,BC142942,BU742489 NP_060043,EAW69494,BAG51890,BAG63467,CAB63719,AAQ89322,AAH36354,Q6UW60,AAI67771,ABM82242,ABM84279,ABM85426,ABM87671,ABW03607 Hs.46884 DKFZp434B217|MGC34749|PC4|SPC5 proprotein convertase 4|proprotein convertase subtilisin/kexin type 4 protein-coding 732125 PCSK5 proprotein convertase subtilisin/kexin type 5 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein mediates posttranslational endoproteolytic processing for several integrin alpha subunits. It is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Two alternatively spliced transcripts are described for this gene but only one has its full length nature known. [provided by RefSeq] 1580863 14702039,12477932,11776387,11723118,11380615,11256614,11230166,11076863,10900462,10888676,10657249,9373149,9067430,8947550,8755541,8755538,8620001,8125298,7782070,11063880,9521771,8670066,15489336,10037747,19764806,20031622,20379614,8940009,18519639,8901832,12787574,16912035,8615794,18245819,18096669,18039650,17242158,16713569,16381901,16344560,16189514,15911696,15601911,15522936,21116278,19913121,20555025,20628086 5125 AK122718,AL391868,DT932737,DV080167,DY655633,NM_001190482,NM_006200,AL353607,AL359253,AL589653,CH471089,AK056202,AK225773,AK310862,AL834522,BC012064,DA992221,DB491139,U49114,U56387 CAH73742,CAH73743,CAI40809,NP_001177411,NP_006191,CAI41233,CAI41234,EAW62575,EAW62576,EAW62577,BAG51646,CAD39178,AAH12064,AAA91807,AAC50643,Q92824,CAL38077,ABM83253,ABM86457,CAI41235 Hs.368542 FLJ11149|FLJ16215|PC5|PC6|PC6A|SPC6 hPC6|prohormone convertase 5|proprotein convertase 5|proprotein convertase 6|proprotein convertase PC5|proprotein convertase subtilisin/kexin type 5|protease PC6|subtilisin/kexin-like protease PC5 protein-coding 1604066 PCSK6 proprotein convertase subtilisin/kexin type 6 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease that can cleave precursor protein at their paired basic amino acid processing sites. Some of its substrates are - transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 19339735,20379614,8179631,7980617,1741956,11063880,9521771,8995442,8940009,8670066,10900462,10467164,10215603,10050053,10037747,9738469,9378725,9242664,9192737,19913121,20628086,12535616,8615794,8218226,12787574,10467177,8906861,18772886,18671934,17909005,17825503,17707572,16433634,15043778,14561729,12805404,12477932,12463163,11736660,11380615,21051773 5046 BX649058,NM_002570,NM_138321,NM_138320,NM_138323,NM_138324,NM_138325,NM_138322,AB001914,NM_138319,AC023024,AC087528,CH471101,AB208955,AI478762,AM491522,AW137040,BC043562,BX428035,CR607190,CR611912,CR620446,D28513,D87993,D87994,D87995,M80482 NP_612192,NP_002561,NP_612194,NP_612193,NP_612196,NP_612197,NP_612198,NP_612195,BAA21620,BAA21621,BAA21622,BAA21623,BAA21625,BAA21626,BAA21627,EAX02301,EAX02302,BAA21624,EAX02303,EAX02304,EAX02305,EAX02306,EAX02307,EAX02308,EAX02309,EAX02310,EAX02311,BAD92192,CAM33226,BAA05871,BAA21791,BAA21792,BAA21793,AAA59998,P29122,Q59H04 Hs.498494,Hs.665989 PACE4|SPC4 paired basic amino acid cleaving enzyme 4|paired basic amino acid cleaving system 4|proprotein convertase subtilisin/kexin type 6|subtilisin-like proprotein convertase 4|subtilisin-like protease|subtilisin/kexin-like protease PACE4 protein-coding 733505 PCSK7 proprotein convertase subtilisin/kexin type 7 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease. It is structurally related to its family members, PACE and PACE4. This protein is concentrated in the trans-Golgi network, associated with the membranes, and is not secreted. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes. Multiple alternatively spliced transcripts are described for this gene but their full length nature is not yet known. Downstream of this gene's map location at 11q23-q24, nucleotides that match part of this gene's 3' end are duplicated and inverted. A translocation breakpoint associated with lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq] 1580863 10037747,20164418,21149283,14702039,12477932,12084516,11723118,11380615,11104692,11051545,10964928,10715106,10362256,10050053,9820811,9373149,9094426,8995623,8615762,8564950,8125298,7819324,12354117,12071862,11063880,10452538,9521771,8940009,9341152,17242158 9159 AF057710,AP000892,CH471065,EF445005,AB231710,AB231712,AK027156,AK097207,AK127262,AK222907,AK312429,BC006357,BC010696,BT006870,CR611459,U33849,U40623,NM_004716 NP_004707,AAD55137,EAW67303,EAW67304,EAW67305,ACA06036,BAE46876,BAG53434,BAD96627,BAG35338,AAH06357,AAH10696,AAP35516,AAB03087,AAC50417,Q16549,Q6PK65,ABM92249,ABM84729 Hs.648612,Hs.410977 FLJ23503|FLJ45329|LPC|PC7|PC8|SPC7 hPC8|lymphoma proprotein convertase|prohormone convertase 7|prohormone convertase 8, subtilisin-like|prohormone convertase PC7|proprotein convertase 7|proprotein convertase 8|proprotein convertase PC7|proprotein convertase subtilisin / kexin, type 7|proprotein convertase subtilisin/kexin type 7|subtilisin/kexin-like protease PC7 protein-coding 731023 PCSK9 proprotein convertase subtilisin/kexin type 9 This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. The encoded protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein may function as a proprotein convertase. This protein plays a role in cholesterol homeostasis and may have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a third form of autosomal dominant familial hypercholesterolemia (HCHOLA3). [provided by RefSeq] 1580998,1580999,1581000,1581001,1581002,1626106 20623344,20691829,20714348,20734064,20738937,20971364,20972250,18250299,18245819,18197702,18193044,18193043,18052825,18039658,18039650,18028451,18006936,17971861,17940607,17804797,17765244,17702855,17645871,17599443,17550346,17539906,17537735,17502100,17495605,17461796,17452316,17449864,17435765,17391637,17351764,17328821,17316651,17142622,17101087,17081983,16989838,16909389,16875509,16619215,16571601,16554528,16465619,16314752,16224054,16211558,16183066,16159606,15893176,15772090,15741654,15654334,15358785,15178557,15166014,15099351,14727179,14727156,14702039,12477932,10205269,20538126,17080197,12730697,12552133,16407292,17170371,17051583,14622975,16912035,19336475,19319977,19282863,19265033,19224862,19198609,19196236,19191720,19191301,19179626,19148283,19060906,19001363,18799458,18753623,18710658,18708425,18680192,18675252,18660751,18652535,18631360,18570182,18559913,18499582,18498363,18436227,18406350,18354137,18354102,18343176,18300938,18280815,18266662,18262190,20498851,20529551,20571754,20579540,20628086,20677014,20679960,20619837,20884874,16344560,18355829,18649882,19022446,19060325,19081568,19222187,19351729,19578796,19619878,19635789,19667110,19687008,19713274,19762784,19773416,19797716,19828345,19843101,19878649,19913121,19917273,19948975,20006333,20031582,20031607,20145306,20163833,20167577,20172854,20186155,20236128,20308432,20333646,20400780,20864672,20937814,20452593,20448210,20589640,20699424,20716520 1580998,1580999,1581000,1581001,1581002,1626106 255738 NM_174936,NG_009061,AC091609,AL589790,AX127530,AX207686,AY829011,CH471059,FJ525880,AK075365,AK122717,AK124635,AK293870,AK297473,BC042095,EF692496,DA738424 NP_777596,CAI17845,CAC38896,CAC60361,AAV67948,EAX06660,ACN81318,BAC11572,BAC85910,BAG57260,BAG59894,ABV59216,Q8NBP7,AAI66619 Hs.18844 FH3|HCHOLA3|LDLCQ1|NARC-1|NARC1|PC9 convertase subtilisin/kexin type 9 preproprotein|neural apoptosis regulated convertase 1|neural apoptosis-regulated convertase 1|proprotein convertase 9|proprotein convertase subtilisin/kexin type 9|subtilisin/kexin-like protease PC9 protein-coding 734014 PCTK1 PCTAIRE protein kinase 1 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells. This gene is thought to escape X inactivation. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1639063,9738006,14530271,16169070,19884882,16091426,1437147,18029348,17192257,17081983,16461345,16344560,15772651,15489334,14702039,12477932,12154078,12084709,10099831,9799109,9244435,9197417,8889548,8852665,8088790,7656587 5127 DA816614,NM_001170460,CR612039,CR620813,DA900611,X66363,AB209465,NM_006201,NG_012517,AL096791,AL513366,CH471164,AK096881,AK131486,AK290145,AK296880,AK301832,AK303849,BC001048,BC006190,BC009852,BC015607,BG029956,BQ187876,BT006827,NM_033018 NP_001163931,CAA47006,Q00536,Q59FJ5,Q6ZMU4,Q96GA5,Q9BRL4,BAD92702,NP_148978,NP_006192,CAD20055,EAW59294,EAW59295,EAW59296,EAW59297,EAW59298,BAD18631,BAF82834,BAH12447,BAH13564,BAH14066,AAH01048,AAH06190,AAH09852,AAH15607,AAP35473 Hs.496068 FLJ16665|PCTAIRE|PCTAIRE1|PCTGAIRE|PCTK1 PCTAIRE-motif protein kinase 1|cell division protein kinase 16|serine/threonine-protein kinase PCTAIRE-1 protein-coding 1343326 PCTK2 PCTAIRE protein kinase 2 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to rat protein which is thought to play a role in terminally differentiated neurons. [provided by RefSeq] 1580863 15161933,16344560,19884882,1639063,17192257,15761153,15489334,15324660,12477932,11527406,10727952,9370357,14603251 5128 DA735430,NM_001170464,NM_002595,AC125612,CH471054,AF086067,AK290011,AK294698,AK315214,BC033005,BF111798,CB990077,X66360,DA530711,DC307775 NP_001163935,NP_002586,EAW97566,EAW97567,EAW97568,EAW97569,BAF82700,BAG57856,BAG37649,AAH33005,CAA47004,Q00537,ABM81734,ABM84889 Hs.506415 PCTAIRE2|PCTK2 PCTAIRE-motif protein kinase 2|cell division protein kinase 17|protein kinase cdc2-related PCTAIRE-2|serine/threonine-protein kinase PCTAIRE-2 protein-coding 1319906 PCTK3 PCTAIRE protein kinase 3 16091426,17192257,16766195,16710414,16344560,16189514,15489334,15019984,14702039,12477932,8088790,1639063,1437147,19884882,8889548 5129 AK308913,AU130437,AY353237,AY353238,AY353239,AY353240,BC000281,BC009223,BC011526,BC040529,BM772779,BT007299,BU165355,CR601018,X66362,AL161977,NM_002596,NM_212503,NM_212502,AL357131,CH471067,AB209307,AK126879,AK293756,AK295272,AK295654,AK296320,BM695474,DC381358 AAR13065,AAR13066,AAH00281,AAH11526,AAH40529,AAP35963,CAA47005,Q07002,Q59G02,Q5VXQ3,Q5VXQ4,Q5VXQ5,Q8IWB3,Q9BWF9,ABM84466,ABM84675,NP_002587,NP_997668,NP_997667,CAH72009,CAH72010,CAH72011,CAH72012,EAW91559,EAW91560,EAW91561,EAW91562,BAD92544,BAG54388,BAG57176,BAG58258,BAG58521,BAG59015 Hs.445402 PCTAIRE|PCTAIRE3|PCTK3 OTTHUMP00000035326|OTTHUMP00000035327|OTTHUMP00000035328|PCTAIRE protein kinase 3|PCTAIRE-motif protein kinase 3|cell division protein kinase 18|serine/threonine-protein kinase PCTAIRE-3 protein-coding 1353620 PCTP phosphatidylcholine transfer protein 1580863 10500206,10542325,18676680,17704541,17266964,15489334,12477932,12055623,11983415,19913121,19170196,19625176,19692168 58488 BM153142,BM549250,NM_001102402,NM_021213,AC009837,AC091155,AF114431,AF114432,AF114433,AF114434,AF114435,AF114436,CH471109,AF087857,AF114430,AF151638,AK024667,AK058120,AK314509,BC005112,BC012084,BX648199,CR590755,CR605133,CR608698,CR608827,CR609651,CR615875,CR618541,CR625866 NP_001095872,NP_067036,AAF08347,EAW94533,EAW94534,EAW94535,EAW94536,AAP97167,AAF08345,AAF02536,BAG37109,AAH05112,AAH12084,Q549N3,Q9BSC9,Q9UKL6 Hs.285218 PC-TP|STARD2 START domain containing 2|START domain-containing protein 2|StAR-related lipid transfer (START) domain containing 2|phosphatidylcholine transfer protein|stAR-related lipid transfer protein 2 protein-coding 1350972 PCYOX1 prenylcysteine oxidase 1 Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM] 1580863 9287348,17154273,19253276,16765319,16335952,15489334,12975309,12477932,12186880,10585463,10048485,9373149,8125298 51449 AC016700,AC079338,CH471053,AB020715,AF181490,AK225302,AK296478,AK303043,AK314453,AK316013,AY359063,BC007029,BC022259,BC033815,BC051891,CR592612,CR596400,CR623756,DC417137,NM_016297 NP_057381,AAX93194,AAX81995,EAW99819,BAA74931,AAF16937,BAH12368,BAH13888,BAG37061,BAH14384,AAQ89422,AAH07029,AAH33815,AAH51891,Q53ST0,Q584P1,Q9UHG3,ABM81727,ABM84882 Hs.567502 KIAA0908|PCL1 OTTHUMP00000204091|OTTHUMP00000204094|prenylcysteine lyase|prenylcysteine oxidase 1 protein-coding 1604601 PCYOX1L prenylcysteine oxidase 1 like 16344560,16303743,15489334,15340161,12477932,20237496 78991 AC131025,CH471062,CS051219,AF451985,AK075414,AK090410,AK127281,AL834220,BC000014,BC004166,BP397957,NM_024028,DA368718,DB573610,CR622771 NP_076933,EAW61783,EAW61784,EAW61785,CAI72105,AAP97684,BAC11604,BAC03391,BAG54471,CAD38901,AAH00014,AAH04166,Q8NBM8 Hs.644397,Hs.717109 MGC3265 prenylcysteine oxidase-like protein-coding 737380 PCYT1A phosphate cytidylyltransferase 1, choline, alpha 1580863 7918629,17184542,17081983,16964243,15069071,12477932,12052891,10480912,9224626,9166786,8810902,8155650,7726555,2833521,2155660,19737740,20662904 5130 NM_005017,AC069257,CH471191,EU280320,AK304534,AK309073,AK309300,AK313450,BC046355,CR601695,L28957 NP_005008,EAW53655,EAW53662,ABX44666,BAG65334,BAG36238,AAH46355,AAA72127,P49585 Hs.135997 CCTA|CT|CTA|CTPCT|PCYT1 CCT A|CCT-alpha|CT A|CTP:phosphocholine cytidylyltransferase A|OTTHUMP00000208443|OTTHUMP00000208444|OTTHUMP00000208447|choline-phosphate cytidylyltransferase A|phosphorylcholine transferase A protein-coding 1348765 PCYT1B phosphate cytidylyltransferase 1, choline, beta 1580863 19913121,20628086,19595683,9593753,15489334,15345747,14702039,12477932,11580270,10480912,10409428,11580269 9468 NG_013253,NM_004845,NM_001163264,NM_001163265,AC079168,CH471074,EU181262,AF052510,AF148464,AK022741,AK226121,AK296333,AK315323,BC045634,BG942820,CR618952,HB883417,HC940826 NP_004836,NP_001156736,NP_001156737,EAW99021,EAW99022,EAW99023,ABW03924,AAC39754,AAD35088,BAG59022,BAG37725,AAH45634,Q9Y5K3,CBF65932,CBU90804 Hs.660708 CCTB|CTB CCT B|CCT-beta|CT B|CTP:phosphocholine cytidylyltransferase b|OTTHUMP00000023085|choline-phosphate cytidylyltransferase B|phosphorylcholine transferase B protein-coding 736348 PCYT2 phosphate cytidylyltransferase 2, ethanolamine 1580863 17207965,9083101,16189514,16023412,15489334,14702039,12477932,9370320,17612623,18583706 5833 NM_002861,CH471099,AK093328,AK315777,AY251539,BC000351,BC010075,CR456779,CR591281,CR592207,CR596188,CR617224,CR624315,CR624509,CR624678,D84307,HB883419,HC940828,AC145207,AK297996,AK301723,AK316385,BX459568,NM_001184917,NR_033681,NR_033682,NR_033683,NR_033685 ADQ32426,NP_002852,EAW89705,BAG52690,AAH00351,AAH10075,CAG33060,BAA12311,Q99447,CBF65933,CBU90805,BAH12702,BAH13541,BAH14756,NP_001171846 Hs.569843 ET CTP:phosphoethanolamine cytidylyltransferase|ethanolamine-phosphate cytidylyltransferase|phosphorylethanolamine transferase protein-coding 733658 PDAP1 PDGFA associated protein 1 632905,1580863 8780057,15489334,15302935,12853948,12477932,11331882,9847074,8889548 632905 11333 AC004922,CH236956,CH471091,U65960,AA464753,BC000684,BC001578,BC007873,BC039130,BC071993,BE543808,BF037671,BI460344,BQ215882,CB852527,CR594369,CR606062,CR609056,NM_014891,CR609076,CR623070,CR623254,U41745,NG_028040,BG281467 NP_055706,AAF03506,EAW76674,EAW76675,EAW76676,AAB07135,AAH00684,AAH07873,AAC50462,Q13442 Hs.632296 HASPP28|PAP|PAP1 28 kDa heat- and acid-stable phosphoprotein|PDGF associated protein|PDGF-associated protein|PDGFA-associated protein 1 protein-coding 1349017 PDB1 Paget disease of bone 1 5131 1352563 PDB2 Paget disease of bone 2 9345096,9626621 8171 1350371 PDB4 Paget disease of bone 4 11473345 94003 1352364 PDB5 Paget disease of bone 5 140777 1345204 PDB6 Paget disease of bone 6 140778 737392 PDC phosducin This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 11287646,18029348,19959875,7961975,8288249,16710414,16421094,14758335,12500174,12477932,12107411,11331285,10884381,10866677,10753654,10708513,9843381,9701609,9551090,9020189,8288259,8188267,2394752,2383274,2210381 5132 NM_002597,NM_022576,NG_009101,AF172075,AL596220,AL663036,CH471067,M38058,M38059,M60720,AF076464,BC093839,BC112134,BQ636049,M33478 NP_002588,NP_072098,CAI13122,EAW91212,EAW91213,EAW91214,EAW91215,AAA36210,AAD43142,AAH93839,AAI12135,AAA35486,P20941,Q52LP8,Q9UP22,Q9UP23,Q9Y6H7,AAI48617,AAI53183 Hs.654381 MEKA|PHD|PhLOP|PhLP 33 kDa phototransducing protein|33kDA phototransducing protein|G beta gamma binding protein|phosducin|phosducin-like orphan protein protein-coding 1323231 PDCD1 programmed cell death 1 This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq] 1580863 18203952,18174230,18173375,18171281,18160439,18096476,18069935,18056444,18042085,18041714,18037500,17999073,17968013,17942371,17885290,17868872,17721918,17641065,17610472,17603844,17570250,17567698,17535987,17490403,17468813,17344889,17311651,17272504,17228327,17203303,17136123,17130567,17064404,17024563,17002900,16956940,16954372,20837075,20848568,20881011,20959405,20825974,20826917,21110433,18067228,18756934,19420358,19423728,19439344,19449188,19468750,19500502,19539220,19564339,19581275,19651643,19695683,19739236,19759858,19794071,19800335,19811417,19811426,19828602,19900372,19949078,19959217,19998245,20012629,20066438,20087161,20113370,20128032,20185964,20388336,20447384,20518841,1396582,9332365,19505258,19395117,19380770,19332785,19263877,19234630,19224853,19220647,19202444,19197939,19160029,19147248,19141860,19116915,19095563,19074163,19058313,19056397,19050238,19035512,18981091,18925909,18830259,18799583,18771758,18768824,18707923,18680238,18676751,18594468,18578969,18566376,18550794,18549878,18510628,18494554,18490780,18455515,18448390,18440040,18401354,18337305,18322304,18294387,18250483,16917489,16493037,16471222,16278812,16265694,16227604,16171790,15959535,15934088,15912506,15883854,15818672,15352422,15334473,15322919,15188352,15022318,14730631,14617032,12893276,12719480,12517932,12477932,12402038,12095712,9141617,7851902,17963598,20381020,20514052,20657553,20636820,20890291,20070620,20819923,20883163,21064032,21084749,21148500,20587542,20693422,20709947,20445553,20617899,20668808,20677149,20700634,20506224,18822202 5133 NM_005018,NG_012110,AC131097,AF363458,CH471063,EF064716,L27440,U64864,AI928135,AK313848,AY206416,AY238517,AY322430,BC074740,CR988122,U64863,HH957981 NP_005009,AAN64003,EAW71298,ABK41899,AAC41700,AAC51774,BAG36577,AAO25116,AAO63583,AAP85379,AAH74740,AAC51773,Q15116,Q7Z5I0,Q86TL7,Q8IX89,Q9UMF3,CBX51254 Hs.158297 CD279|PD1|SLEB2|hPD-1|hPD-l programmed cell death protein 1|protein PD-1 protein-coding 1351056 PDCD10 programmed cell death 10 This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 20489202,20677014,17353931,20682288,20854465,20592472,17360971,17657516,19246713,19199464,19088124,19088123,18300272,18035376,17212813,16769843,16730941,16380626,16329096,16284570,16239636,16189514,15543491,15489334,12477932,9811928,18782753,20668527,19370760,19423540,19506228,19688696,20332113,20406964,20438785 11235 NM_145859,NM_145860,NM_007217,NG_008158,AC079822,CH471052,AF022385,AK291130,BC002506,BC016353,CR457107,CR597382,CR603036,CR604236,CR615626,CR616910 NP_665858,NP_665859,NP_009148,EAW78574,EAW78575,EAW78576,EAW78577,EAW78578,EAW78579,EAW78580,EAW78581,AAB72225,BAF83819,AAH02506,AAH16353,CAG33388,Q9BUL8,ABM83509,ABM86725 Hs.478150 CCM3|MGC1212|MGC24477|TFAR15 OTTHUMP00000212920|OTTHUMP00000212921|OTTHUMP00000212924|OTTHUMP00000212925|OTTHUMP00000212953|OTTHUMP00000212954|OTTHUMP00000212955|OTTHUMP00000212956|OTTHUMP00000212957|OTTHUMP00000212958|TF-1 cell apoptosis-related protein 15|apoptosis-related protein 15|cerebral cavernous malformations 3 protein|programmed cell death protein 10 protein-coding 1354347 PDCD11 programmed cell death 11 PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM] 1580863 15887232,16169070,14624448,17654514,17081983,15489334,12477932,12429849,10229231,8724849,19332556 22984 NM_014976,AL139339,AL591408,AL603983,CH471066,AK294971,AK307418,BC007698,BC023615,BC049838,BC064486,BC080560,BC111040,BM476302,CR602457,D80007 NP_055791,CAH71487,CAI16749,CAI15102,EAW49639,EAW49640,EAW49641,BAG58043,AAH49838,AAH64486,AAH80560,AAI11041,BAA11502,Q14690,AAI72442 Hs.239499 ALG-4|ALG4|KIAA0185|NFBP|RRP5 NF-kappa-B-binding protein|apoptosis-linked gene 4|programmed cell death protein 11|protein RRP5 homolog protein-coding 1314998 PDCD1LG2 programmed cell death 1 ligand 2 1580863 17343323,17311651,17203303,17136123,16598819,16278812,15837746,15489334,15340161,15253154,15164053,14724428,14702039,14515261,12893276,12538684,12477932,11224527,20587542,20709947,17597384,11283156,18992148,18566376,18479731,18378285,18322304,18203952,19729380,19739236,20066438,20682852,20445553 80380 NM_025239,AL162253,CH471071,AF329193,AF344424,AK001872,AY254343,AY271901,AY271902,BC074766,BC113678,BC113680,BC143920,BC143921,BX951459,CA442083,DQ336699,EF444806 NP_079515,CAI15984,EAW58762,AAK31105,AAK15370,AAP13471,AAP49000,AAP49001,AAH74766,AAI13679,AAI13681,ABC59616,ABO33153,Q2LC89,Q9BQ51,ADR82896 Hs.532279,Hs.617872 B7DC|Btdc|CD273|MGC142238|MGC142240|PD-L2|PDCD1L2|PDL2|bA574F11.2 B7-DC|PD-1 ligand 2|PD-1-ligand 2|PDCD1 ligand 2|butyrophilin B7-DC|programmed cell death 1 ligand 2|programmed death ligand 2 protein-coding 733734 PDCD2 programmed cell death 2 This gene encodes a nuclear protein expressed in a variety of tissues. The rat homolog, Rp8, is transiently expressed in immature thymocytes and is thought to be involved in programmed cell death. Expression of the human gene has been shown to be repressed by BCL6, a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on PDCD2. This gene is closely linked on chromosome 6 to the gene for TBP, the TATA binding protein. Two transcripts encoding different proteins have been identified. [provided by RefSeq] 18486760,19955554,19958059,20605493,15231747,7606924,19146857,17468402,16311922,15848047,15489334,14743216,14702039,14574404,12477932,12149646,11854457,19615732 5134 AW966881,BC015835,BX385363,NM_001199461,NM_001199462,NM_001199463,NM_001199464,NM_002598,NM_144781,AL031259,CH471051,AJ420535,AK055180,AK297343,AY948416,AY948417,BC008378,BC067759,BG721244,CR608467,CR615387,S78085,DC351104 NP_001186390,NP_001186391,NP_001186392,NP_001186393,NP_002589,NP_659005,CAA20285,CAD92541,EAW47413,EAW47414,EAW47415,EAW47416,EAW47417,BAG59795,AAX51225,AAX51226,AAH08378,AAH67759,AAB34865,Q16342,Q58HM9,Q58HN0,Q6NW24,Q7Z6S7,ABM84401,ABM87344 Hs.594143,Hs.367900 MGC12347|RP8|ZMYND7 OTTHUMP00000017702|programmed cell death 2/Rp8 homolog|programmed cell death protein 2|zinc finger MYND domain-containing protein 7|zinc finger protein Rp-8 protein-coding 1601844 PDCD2L programmed cell death 2-like 18486760,17393540,16311922,15489334,12477932,17207965 84306 NM_032346,AC008747,AC092073,BC006146,CR592665,CR594354,CR603540,CR625074 NP_115722,AAH06146,Q9BRP1,ADQ32690 Hs.515344 MGC13096 programmed cell death protein 2-like protein-coding 732159 PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) This gene encodes a protein localized to the nucleus in proliferating cells. Expression of this gene is modulated by cytokines in natural killer and T cells. The gene product is thought to play a role in apoptosis but the specific role has not yet been determined. Two transcripts encoding different isoforms have been identified. [provided by RefSeq] 20359850,20595005,16385451,19615732,19633292,19641183,19672202,19682430,19728867,19784072,19836969,19946272,18793349,20471435,20656320,19031945,19013014,18549351,18457901,18427550,18386173,18372920,18296647,18296639,17991735,17955371,17849461,17828298,17297470,17081983,17053147,16964243,16682950,16449643,15592455,15489334,15317660,15164054,15153438,15144186,15082783,12898601,12477932,10640828,10632927,9759869,9373149,8543179,8125298,17353931,19153607,20514454,20735432,20372781,20560677,20831814,19204291,12054647,16357133,19493270,19296468,18029348,20800603,16344560,17982621,20498644 27250 NM_014456,AL136368,AL158163,CH471066,U83908,AK223623,AK296753,AK312540,AK315295,AL049932,BC015036,BC026104,NM_145341,BC031049,BI910668,BX537500,BX641168,BX647834,CR617800,U96628,DB241608,NM_001199492 NP_663314,NP_055271,CAI40094,CAI40095,CAH72814,CAH72815,EAW49552,EAW49553,EAW49554,AAB42218,BAD97343,BAG59336,BAG35439,BAG37701,AAH15036,AAH26104,AAH31049,AAB67706,Q53EL6,Q5VZS7,ABM82571,ABM85760,NP_001186421 Hs.711490 H731|MGC33046|MGC33047 neoplastic transformation inhibitor protein|nuclear antigen H731|nuclear antigen H731-like|programmed cell death protein 4|protein 197/15a protein-coding 1321536 PDCD5 programmed cell death 5 This gene encodes a protein expressed in tumor cells during apoptosis independent of the apoptosis-inducing stimuli. Prior to apoptosis induction, this gene product is distributed in both the nucleus and cytoplasm. Once apoptosis is induced, the level of this protein increases and by relocation from the cytoplasm, it accumulates in the nucleus. Although its exact function is not defined, this protein is thought to play an early and universal role in apoptosis. [provided by RefSeq] 1580863 9920759,19358820,19308289,18695908,18401719,17468978,17081983,16549820,16547588,16361542,16169070,16083422,15489334,15302935,15033527,12665801,12477932,11741587,8889548,18029348,17605845,19088824,19615732,19616514,19789190,19957502,20047520,20120772,20453000,16083554,14702039,16461635,20349137,20398626 9141 NM_004708,AC008474,AB209040,AF014955,AK293486,BC015519,BM696336,BT006694,CR456934,CR603482,CR604710,DQ208400,AK124774,DN915905,N40187 NP_004699,BAD92277,AAD11579,BAG56975,AAH15519,AAP35340,CAG33215,ABA60375,O14737,Q3HM38,ABM84503,ABM85537 Hs.443831 FLJ42784|MGC9294|TFAR19 TF-1 cell apoptosis-related protein 19|TF1 cell apoptosis-related gene 19|TFAR19 novel apoptosis-related|programmed cell death protein 5 protein-coding 1322592 PDCD6 programmed cell death 6 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. [provided by RefSeq] 1580863 17196169,17214967,8560270,18997320,18940611,18256029,17045351,16957052,16189514,16004603,15925322,15635413,15489334,15366927,14999017,14702039,12819013,12804766,12522145,12477932,12445461,12445460,12372597,12034747,11883939,11883899,11606059,11591653,11278427,11108958,10858458,10744743,9880530,9373149,8125298,16132846,18957060,19520058,19864416 10016 NM_013232,AC021087,AC118458,AF035606,AK001917,AK128087,AK223366,AK295082,AK308872,AK315370,BC012384,BC028242,BC050597,BC106706,BC110291,BI553617,BT020072,CR592133,CR599253,CR608684,U58773,AK310347,CH471235 NP_037364,AAC27697,BAC87267,BAD97086,BAG58124,BAG37763,AAH12384,AAH50597,AAI06707,AAI10292,AAV38875,AAF14336,O75340,Q2YDC2,Q53FC3,Q6ZRP2,Q86W51,ABM82089,ABM85270,EAW50991 Hs.50823 ALG-2|FLJ46208|MGC111017|MGC119050|MGC9123|PEF1B OTTHUMP00000221465|OTTHUMP00000221473|OTTHUMP00000221474|apoptosis-linked gene 2 protein|apoptosis-linked gene-2|probable calcium-binding protein ALG-2|programmed cell death protein 6 protein-coding 68505 PDCD6IP programmed cell death 6 interacting protein This gene encodes a protein thought to participate in programmed cell death. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 14583093,14519844,14505570,14505569,12927788,12860994,12771190,12588984,12477932,12360406,12034747,11683497,10718198,10200558,9880530,9647693,8889548,16470130,16234236,17927229,15509564,20669987,20929444,20962096,20519395,20691033,20800603,11883939,19016654,18948538,18940611,18936101,18684393,18644787,18641129,18565486,18511562,18477395,18476810,18380665,18292600,18032513,17853893,17673164,17601348,17556548,17428861,17389591,17353931,17350572,17277784,17250865,17166905,17158451,17082185,17081065,17014699,16764724,16344560,15914539,15849434,15557335,15489334,15456872,15231748,15195070,14999017,14739459,14702039,14678797,20605035,16169070,18029348,18256029,19393081,19520058,19523902,19596386,19692479,19706535,19906316,20379614,17196169,20562859,20670214,20936779 10015 NM_001162429,NR_027867,NR_027868,AC112220,AC123901,CH471055,AB037796,AF151793,AF250394,AF349951,AI346371,AK002122,AK295042,AK298727,BC020066,BC068454,NM_013374,BI562417,BM669193,BQ024882,BQ895877,BT007367,BU165197,BU194828,DA652213,GQ131806 NP_037506,NP_001155901,EAW64468,EAW64469,BAA92613,AAF08220,AAQ14260,AAK20398,BAA92092,BAG58093,BAH12857,AAH20066,AAH68454,AAP36031,ACS12984,Q4W4Y1,Q6NUS1,Q8WUM4 Hs.475896 AIP1|Alix|DRIP4|HP95|MGC17003 ALG-2 interacting protein 1|ALG-2 interacting protein X|ALG-2-interacting protein 1|PDCD6-interacting protein|apoptosis-linked gene 2-interacting protein X|dopamine receptor interacting protein 4|programmed cell death 6-interacting protein protein-coding 1319039 PDCD7 programmed cell death 7 This gene encodes a protein with sequence similarity to a mouse protein originally identified in embryonic stem cells. In mouse T-cell lines, this protein appears to be related to glucocorticoid- and staurine-induced apoptotic pathways, and to be linked to ceramide-mediated signalling. These observations suggest that this gene product is involved in specific apoptotic processes in T-cells. 1580863 15146077,10037816,8125298,15489334,15231748,14702039,12477932,9373149,17505986,18347052,16169070,16484223 10081 AC013553,CH471082,AF083930,AK096970,AK225816,BC016992,BC092464,BC131704,BK005196,BT007395,AK303203,NM_005707 EAW77713,EAW77714,AAD20241,BAC04915,AAH16992,AAH92464,AAI31705,DAA05494,AAP36059,Q569I4,Q6IEG3,Q8N8D1,BAG64293,NP_005698 Hs.458596 ES18|FLJ54213|HES18|MGC22015 U11/U12 snRNP 59K|apoptosis-related protein ES18|programmed cell death protein 7 protein-coding 735514 PDCL phosducin-like Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq] 633731,1580863 20098747,10524200,11256614,19376773,17081983,16717095,16381901,15745879,15585822,15489336,15489334,12477932,12466282,11230166,11076863,10899582,10884381,10095058,8248177,15889144,12060742,19403526 633731 5082 NM_005388,AF083324,AF083325,AL359512,CH471090,U38236,AF031463,AK024980,AK313429,AL117602,BC017227,BQ775109,BX369420,CR618226,CR618655,CR623512 NP_005379,AAC78848,AAC78849,CAI94958,CAI94959,EAW87546,AAA79724,AAD01930,BAG36221,CAB56011,AAH17227,Q13371,Q4VXB5,Q4VXB6,Q9UNX1,Q9UNX2,CAL38288,ABM84005,ABM87338,CAI94960 Hs.271749,Hs.620774 DKFZp564M1863|PhLP phosducin-like protein protein-coding 1344096 PDCL2 phosducin-like 2 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq] 11329013,15489334,12477932,12424248,19193988 132954 NM_152401,AC024243,CH471057,AW629089,BC034431,BG198696 NP_689614,EAX05469,AAH34431,Q8N4E4 Hs.223712 GCPHLP phosducin-like protein 2 protein-coding 1320124 PDCL3 phosducin-like 3 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq] 1580863 15371430,15489334,12477932,12424248,17207965,17429077,18029348 79031 NM_024065,AC068538,CH471127,AF110511,AF267853,AI741007,AK300827,AK313985,BC001021,BG819099,BI820064 NP_076970,AAX93227,EAX01837,EAX01838,AAG21887,AAG44722,BAH13356,BAG36697,AAH01021,Q9H2J4,ADQ33173 Hs.469459 HTPHLP|MGC3062|PHLP2A|PHLP3|VIAF|VIAF1 IAP-associated factor VIAF1|VIAF-1|phPL3|phosducin-like protein 3|viral IAP-associated factor 1 protein-coding 1354070 PDCL3P1 phosducin-like 3 pseudogene 1 448836 1604948 PDDC1 Parkinson disease 7 domain containing 1 16344560,14702039,12477932,16169070 347862 NM_182612,AP006621,CH471158,AK091602,AK092816,AK128653,AK293559,AK309153,BC110868,BC112145,BC143415,BC143416,BC143418,BC143419,BC143420,BC143421,BC143422,BC143423,BU625376,DA025348 NP_872418,EAX02380,EAX02381,EAX02382,BAC03706,BAC03983,BAC87551,BAH11535,AAI10869,AAI12146,AAI43417,AAI43419,AAI43421,Q8NB37 Hs.218362 FLJ34283|FLJ35497|MGC131881|MGC138350 Parkinson disease 7 domain-containing protein 1 protein-coding 68649 PDE10A phosphodiesterase 10A Various cellular responses are regulated by the second messengers cAMP and cGMP. Phosphodiesterases, such as PDE10A, eliminate cAMP- and cGMP-mediated intracellular signaling by hydrolyzing the cyclic nucleotide to the corresponding nucleoside 5-prime monophosphate (Fujishige et al., 2000 [PubMed 10998054]).[supplied by OMIM] 1300048,2312479,1580863 19913121,20628086,20816195,16330539,18635550,18514160,20610737,15489334,14702039,14574404,12477932,11602184,11156964,10998054,10441464,10393245,10373451,8557689,16169070,19689430,20201926,20298200,20351714,20379614,20526340,20585324 2312479 10846 AF127479,AF127480,AK021956,AK098543,AK297555,BC104858,BC104860,BC143297,BC143301,CR536567,NM_001130690,AB041798,AL117345,AL121789,AL136130,AL160160,CH471051,CS158635,AB020593,AB026816,NM_006661 AAD32595,AAD32596,BAG59948,AAI04859,AAI04861,CAG38804,Q9HCQ1,Q9ULW9,Q9Y233,NP_006652,NP_001124162,BAB16383,BAB92963,CAB92797,CAI20436,CAH72023,EAW47546,CAJ29925,BAA78034,BAA84467 Hs.348762 FLJ11894|FLJ25677|HSPDE10A OTTHUMP00000017586|cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A|dJ416F21.1 (phosphodiesterase 10A)|phosphodiesterase 10A1 (PDE10A1) protein-coding 737612 PDE11A phosphodiesterase 11A The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2312479,1580863 16079899,15995148,15815621,15800654,15800651,15538396,15489334,14702039,12477932,11502204,11121118,11050148,10906126,9847074,7935318,11156964,10725373,19429701,19214142,18559625,18491255,18312413,18043711,17178847,17008408,16767104,16330539,20920776,19549888,19557111,19671705,19689430,20110084,20351714,20379614,20881257,21047926,19913121,20628086,8557689 2312479 50940 AB036704,AB038041,AF281865,AI919276,AJ251509,AJ278682,AK074273,AK127194,AK294076,BC112393,BC114431,BX105579,BX649056,NM_016953,NM_001077196,NM_001077358,NG_012168,AB048423,AC011998,AC012499,AC073834,AC073892,AC083824,CH471058,NM_001077197,HM771389,HM771390,HM771391 BAB16371,BAB16372,AAG32023,CAB82573,CAC15567,BAG57418,AAI12394,AAI14432,Q53S07,Q53S13,Q9HCR9,NP_001070665,NP_058649,NP_001070664,NP_001070826,BAB62712,BAB62713,BAB62714,AAY14803,AAX93113,AAY24130,EAX11047,EAX11048,EAX11049,EAX11050,EAX11051,ADV69110,ADV69111 Hs.570273 FLJ23693|MGC133355|MGC133356|PPNAD2 OTTHUMP00000205272|OTTHUMP00000205273|cAMP and cGMP cyclic nucleotide phosphodiesterase 11A|cAMP and cGMP phosphodiesterase 11A|cyclic nucleotide phosphodiesterase 11A|dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A protein-coding 1606683 PDE12 phosphodiesterase 12 15231837,14702039,12477932,20445249,19615732,20877624 201626 NM_177966,AC092418,CH471055,AB115695,AK001526,AK074423,AL831824,BC034978,BX647169,AK300374 NP_808881,EAW65342,EAW65343,BAD20938,BAB85079,CAD38538,Q6L8Q7,ACE87622,ACE87681,ACE86992,BAG62110 Hs.572993 2'-PDE 2',5'-phosphodiesterase 12|2'-phosphodiesterase|2-PDE protein-coding 68458 PDE1A phosphodiesterase 1A, calmodulin-dependent 1300048,2312479,1580863 17726023,19557111,20110084,20379614,18335582,8557689,19214142,18043711,16514069,15489334,15272012,12477932,12135876,11991719,11747989,11369604,11342109,11329013,11156964,10405764,8889548,19913121,20628086 2312479 5136 NM_005019,NM_001003683,AB038224,AC010888,AC011291,AC012500,AF110239,CH471058,AA846454,AB038227,AB038228,AF110235,AF110236,AF110237,AF110238,AJ401610,AK130643,AK294239,AK295657,AK301720,AL110263,BC022480,BC047057,BG196993,BM719913,CR617640,U40370 NP_005010,NP_001003683,BAB20049,BAB20050,BAB20051,BAB20052,BAB20053,BAB20054,BAB20055,BAB20056,BAB20057,AAY14837,AAY14812,AAD40741,EAX10965,EAX10966,EAX10967,EAX10968,EAX10969,EAX10970,EAX10971,EAX10972,EAX10973,EAX10974,EAX10975,BAB20037,AAD40737,AAD40738,AAD40739,AAD40740,CAC82208,BAH11712,BAH12143,BAH13538,CAB53703,AAH22480,AAC50436,P54750,Q53T15,Q53TB0,Q9H3Q8,Q9H3Q9,Q9UNL9,Q9Y246,Q9Y633,Q9Y634,ABM83295,ABM84298,ABM86504,ABM87693,BAB20038 Hs.191046,Hs.680373 HCAM1|HSPDE1A|MGC26303 3',5' cyclic nucleotide phosphodiesterase|61 kDa Cam-PDE|OTTHUMP00000163419|OTTHUMP00000205289|OTTHUMP00000205290|calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A|calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase|calmodulin-dependent phosphodiesterase|cam-PDE 1A|hCam-1|phosphodiesterase-1A protein-coding 735556 PDE1B phosphodiesterase 1B, calmodulin-dependent 1300048,2312479,1580863 9419816,8855339,16407168,15625104,15489334,15345747,12477932,11747989,11156964,9003415,1326532,16344560,17726023,19913121,20628086,18029348,8557689 2312479 5153 NM_000924,AC068789,AC079310,CH471054,U86077,AJ401609,AK126899,AK296422,AK302899,AK302931,BC032226,BX538092,M94539,U40584,U56976,U86078,AB209200,DA254686,DC298452,DC392024,NM_001165975 NP_000915,EAW96788,EAW96789,EAW96790,EAW96791,AAC51871,BAD92437,CAC82207,BAG54390,BAG59084,BAG64072,BAG64092,AAH32226,CAD98011,AAA58405,AAB50018,AAC50769,AAC51872,O15307,Q01064,Q16713,Q59GA9,Q7Z364,ABM82599,ABM85785,NP_001159447 Hs.530871 PDE1B1|PDES1B 63 kDa Cam-PDE|Phosphodiesterase-1B|calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B|calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase|calmodulin-stimulated phosphodiesterase PDE1B1|cam-PDE 1B|phosphodiesterase IB, calmodulin-dependent|presumed 63kDa form of the type 1 cyclic nucleotide phosphodiesterase family known as PDE1B protein-coding 68463 PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 2312479,1580863 8557689,18335582,19240061,17726023,16455054,14702039,12853948,12477932,11834707,11369604,11156964,16344560,1326532,20110084,20379614 2312479 5137 NM_005020,AC004931,AC006377,AC007033,CH471073,AK056170,AK091734,AK094180,BC022479,BC022525,U40371,U40372,AC005589,AC007093,DA025688,DA030384,DA221214,DA249465,NM_001191056,NM_001191057,NM_001191058,NM_001191059,AC018637 NP_005011,AAC29142,AAS07516,EAW93984,EAW93985,EAW93986,EAW93987,BAG51638,BAC03734,BAG52838,AAH22479,AAH22525,AAC50437,AAA96961,Q14123,Q75MP2,Q75MW3,Q8NB10,Q8TAE4,ABM84569,ABW03312,NP_001177985,NP_001177986,NP_001177987,NP_001177988 Hs.143821 Hcam3 Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A)|OTTHUMP00000123469|OTTHUMP00000202647|OTTHUMP00000202648|calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C|cam-PDE 1C|hCam-3 protein-coding 730957 PDE2A phosphodiesterase 2A, cGMP-stimulated 1300048,2312479,1580863 9210593,17329248,19390057,16344560,15650061,14702039,12477932,12271124,12038792,11156964,10375378,19828435,20351714,8557689,20395239,19913121,20628086 2312479 5138 BI760519,CR617254,CR624524,DA325165,DA332549,DA504595,DA801834,DB068707,U67733,NM_001143839,NR_026572,NM_001146209,AP003065,AP005019,CH471076,AK092278,AK095024,AK131525,AK295676,AK312434,AY495087,AY495088,BC040974,NM_002599 AAH40974,AAC51320,O00408,Q5J792,Q5J793,Q6ZMR1,Q8IW54,NP_002590,NP_001137311,NP_001139681,EAW74861,EAW74862,BAG52517,BAG52972,BAD18664,BAG58533,BAG35343,AAS75513,AAS75514 Hs.503163 PDE2A1|PED2A4 CGS-PDE|OTTHUMP00000128216|cGMP-dependent 3',5'-cyclic phosphodiesterase|cGMP-stimulated phosphodiesterase 1|cGMP-stimulated phosphodiesterase 4|cGSPDE|cyclic GMP-stimulated phosphodiesterase protein-coding 734436 PDE3A phosphodiesterase 3A, cGMP-inhibited 1300048,2300416,2312479,1582528,2300415,1580863 8921398,18391951,17392505,16873361,16172121,16153182,15489334,15041473,12773402,12477932,12466227,12154085,12038792,11156964,10679291,10421499,8695850,8155697,1315035,19261611,19478329,19584346,20031603,9173884,17332439,16964243,19913121,20089840,20628086,8557689 2300416,2312479,1582528,2300415 5139 NM_000921,AC112777,AC129029,AC129102,CH471094,AJ005036,AK308317,BC117369,BC117371,BX646774,M91667,U36798 NP_000912,EAW96406,CAA06304,AAI17370,AAI17372,AAA35912,AAB18673,Q14432 Hs.591150 CGI-PDE CGI-PDE A|cGMP-inhibited 3',5'-cyclic phosphodiesterase A|cyclic GMP inhibited phosphodiesterase A|cyclic GMP-inhibited phosphodiesterase A protein-coding 732966 PDE3B phosphodiesterase 3B, cGMP-inhibited 2312479,1580863 12765845,12477932,12453887,11839681,11640991,11156964,10952971,10454575,8921398,8706823,8626720,8163498,19569180,19913121,20628086,8557689,8884271,17255105,17884339,18586889,11641262,16702214,16476736,16395595,15147193 2312479 5140 AC018795,AC087207,AC090835,CH471064,D50640,U38178,X95522,AB209326,AY459346,BC136565,BC136566,BC144248,BC150307,NM_000922,X95520 NP_000913,EAW68474,EAW68475,BAA09306,AAC50724,CAA64776,BAD92563,AAR24292,AAI36566,AAI36567,AAI44249,AAI50308,CAA64774,Q13370,Q14001,Q59FY3,AAI46829,AAI50323 Hs.445711 HcGIP1|cGIPDE1 CGI-PDE B|CGIP1|cGMP-inhibited 3',5'-cyclic phosphodiesterase B|cyclic GMP-inhibited phosphodiesterase B|cyclic nucleotide phosphodiesterase protein-coding 737080 PDE4A phosphodiesterase 4A, cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila) 1300048,2302430,2312479,2302429,1580863 9677330,8940140,19047098,19018233,18095939,17576803,16940352,16856845,16300476,16257373,15738310,15489334,15047569,14759258,12810716,12764607,12477932,11994273,11852080,11839681,11566027,11306681,11156964,11114167,10393044,10206997,8413254,8009369,7888306,7772058,2160582,11296225,20813835,19642024,19759179,20082309,20086095,20193079,9371714,19913121,20628086 2302430,2312479,2302429 5141 BC038234,BE266386,BQ009232,CR604925,L20965,M37744,S75213,U18087,U18088,U68532,U97584,NM_001111308,NM_001111309,NM_006202,AC011461,AC011529,AC011548,AF069491,AF178570,CH471106,L20967,AF073745,AW138155,AY266362,AY593872,AY618547,BC019864,NM_001111307 AAH38234,AAA03588,AAA69697,AAB33798,AAC50458,AAA98540,AAC63832,AAC25679,P27815,Q08497,Q86V67,Q9HC30,Q9HC31,ABM83374,ABM86586,NP_001104777,NP_001104778,NP_001104779,NP_006193,AAC35012,AAC35013,AAC35014,AAC35015,AAG13805,AAG13806,EAW84104,EAW84105,EAW84106,EAW84107,EAW84108,EAW84109,AAA03590,AAD34217,AAP31234,AAT00628,AAU82096,AAH19864 Hs.89901 DPDE2|PDE4|PDE46 cAMP-specific 3',5'-cyclic phosphodiesterase 4A|cAMP-specific phosphodiesterase|phosphodiesterase 4A, cAMP-specific (dunce|phosphodiesterase 4A, cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila)|phosphodiesterase E2 dunce homolog|phosphodiesterase E2 dunce homolog, Drosophila|phosphodiesterase isozyme 4 protein-coding 733361 PDE4B phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. Cyclic nucleotides are important second messengers that regulate and mediate a number of cellular responses to extracellular signals, such as hormones, light, and neurotransmitters. The cyclic nucleotide phosphodiesterases (PDEs) regulate the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. This gene encodes a protein that specifically hydrolyzes cAMP. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1300048,2312479,1580863 8392015,8384210,8009369,7958996,7835077,8413254,19060910,19506219,19632097,19728060,19834503,20201926,20379614,20436352,9371714,18029348,19350560,19251251,19240061,18983980,18785206,18394866,18329668,17903301,17823207,17519386,17481393,17417055,17088426,16997058,16344560,16293762,15345747,15331441,15146197,14702039,14585965,12477932,12441002,11839681,11156964,11114167,9882697,19913121,20628086 2312479 5142 BC046161,BC071607,BC101480,BC105040,CN268011,CR749667,DA103627,DA126733,EF595686,L12686,L20966,M97515,U85048,BC036108,NM_001037341,NM_002600,NM_001037340,NM_001037339,AL109926,AL357273,AL359701,AL513493,AL590783,AL591487,AL592285,CH471059,AA206316,AA453531,AB209081,AK000989,AK127365,AK289969,AK290006,AK290206,AK294441,AW519027,GM837077 AAI01481,AAI05041,CAH18458,ABQ85407,AAA35643,AAA03589,AAA36426,AAB96381,Q07343,Q13945,Q59GM8,Q68CX5,NP_001032418,NP_002591,NP_001032417,NP_001032416,CAI21748,CAI21749,CAI21750,CAI21751,CAH73002,CAH73003,CAH73004,CAI23099,CAI23100,CAI23101,CAH70626,CAH70627,CAH70628,EAX06524,EAX06525,BAD92318,BAF82658,BAF82695,BAF82895,BAG57682,CAV28613 Hs.198072 DKFZp686F2182|DPDE4|MGC126529|PDE4B5|PDEIVB OTTHUMP00000010652|OTTHUMP00000010654|PDE32|cAMP-specific 3',5'-cyclic phosphodiesterase 4B|cAMP-specific phosphodiesterase-4 B isoform|dunce-like phosphodiesterase E4|phosphodiesterase 4B, cAMP-specific (dunce|phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)|phosphodiesterase E4 dunce homolog protein-coding 737216 PDE4C phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) 2312479,1580863 9349724,15302935,15057824,14702039,14684825,12477932,11207431,11156964,10574328,9429761,8413254,8009369,7843419,20237496,9371714,19913121,20628086 2312479 5143 NM_001098818,NM_001098819,AC005759,AC008397,AC068499,AF157816,CH471106,AK095384,AK295050,AK300888,AK300983,AY429555,NM_000923,AY429557,AY429558,BC109067,BC109068,L20968,U66346,U66347,U66348,U66349,U88712,U88713,Z46632,AY429556 Q7KYS4,Q7KYU8,Q9P1U3,Q9UPJ5,NP_000914,NP_001092288,NP_001092289,AAC83047,AAC83048,AAC83049,AAC83050,AAC83051,AAF67386,AAD47053,AAD47054,AAD47055,EAW84675,EAW84676,EAW84677,EAW84678,EAW84679,BAG53036,BAH11959,BAH13367,BAH13388,AAI09068,AAI09069,AAA03591,AAB96875,AAB96876,AAB96877,AAB96878,AAC51915,AAC51916,O43849,O43850,O43851,O76104,O76105,P78505,Q08493,Q2VPB9,Q32MM7 Hs.132584 DPDE1|MGC126222 PDE21|cAMP-specific 3',5'-cyclic phosphodiesterase 4C|dunce|phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila)|phosphodiesterase E1 dunce homolog protein-coding 736102 PDE4D phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila) The PDE4D gene is complex and has at least 9 different isoforms that encode functional proteins. These proteins degrade the second messenger cAMP, which is a key signal transduction molecule in multiple cell types, including vascular cells (Dominiczak and McBride, 2003 [PubMed 14517535]).[supplied by OMIM] 1581003,1581004,1581005,1581006,1581007,1300048,2312479,68716,1580863,2312656 16835261,16825591,16689683,16675738,16642035,16543535,16373644,16322495,16166573,16162858,16130105,16030021,16020760,15861005,15802632,15752431,15731479,15611099,15489334,15131123,15003452,14668322,14609333,14517540,14517535,14500724,12842049,12834813,12552097,12477932,12399592,12387865,12193273,12121997,11839681,11833004,19913121,20628086,20634892,20734779,20816195,18711446,18705898,18694398,18514160,18420948,18398440,18158110,18157711,17956250,17903308,17900862,17884339,17673687,17667963,17655870,17594329,17288540,17135396,17088426,17081983,17065074,17016624,16973330,16964243,16914755,9371713,19608201,19426955,19424605,19417766,19399275,19372219,19282863,19251251,19246712,19196240,19056482,18977990,11516626,11296225,11156964,11134006,10913353,10828059,10329691,10022832,8797812,8663227,8413254,8125310,8009369,2554303,10571082,16344560,17006457,17353396,19578796,19786079,19948975,20106966,20161734,20182758,20201926,20357438,20379614,20503266,20540798,7829101,9371714,20732872,20837708,20952536,20819076 1581003,1581004,1581005,1581006,1581007,2312479,68716,2312656 5144 NM_001197218,NM_001197219,NM_001197220,NM_001197221,NM_001197222,NM_001197223,NM_006203,AC008791,AC008804,AC008829,AC008833,AC012315,AC020924,AC027322,AC092343,AC117527,CH471123,AF012073,AF012074,AF536975,AF536976,AF536977,AF536980,AJ250852,AJ250854,AJ250855,AY245866,AY245867,AY388960,BC008390,NM_001104631,BC036319,BF197530,BT007398,CR595345,L20970,U02882,U50157,U50158,U50159,U79571,AC008818,AC008934,AC034234,AC091913,AC091955,AC109486,AK307363,BI492585,BX648604,DB230503,NM_001165899,NG_027957,AC026693 NP_001184147,NP_001184148,NP_001184149,NP_001184150,NP_001184151,NP_001184152,NP_001098101,NP_006194,EAW54982,EAW54983,EAW54984,EAW54985,EAW54986,EAW54987,EAW54988,EAW54989,EAW54990,EAW54991,EAW54992,AAC00069,AAC00070,AAN10117,AAN10118,AAN10119,CAC03756,CAC03757,CAC03758,AAP75760,AAP75761,AAQ90404,AAH08390,AAH36319,AAP36062,AAA03592,AAC13745,AAA97890,AAA97891,AAA97892,AAC51928,O43862,Q08499,Q9HCX6,Q9HCX8,NP_001159371 Hs.117545,Hs.721404 DKFZp686M11213|DPDE3|FLJ97311|HSPDE4D|PDE4DN2|STRK1 OTTHUMP00000221675|OTTHUMP00000221681|OTTHUMP00000221682|OTTHUMP00000221685|OTTHUMP00000221686|PDE43|cAMP-specific 3',5'-cyclic phosphodiesterase 4D|cAMP-specific phosphodiesterase 4D|cAMP-specific phosphodiesterase PDE4D6|dunce-like phosphodiesterase E3|phosphodiesterase 4D, cAMP-specific (dunce|phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)|phosphodiesterase E3 dunce homolog protein-coding 1352019 PDE4DIP phosphodiesterase 4D interacting protein 1299425 17143517,16713569,16344560,15342556,14702039,12693553,12477932,11374908,11134006,9455484,18029348,18482256,20379614,8889549,17207965 1299425 9659 BG776644,BI550399,DA764537,DA766011,NM_001195260,NM_001195261,CR749273,DA238288,DA860918,DB187907,R42452,CR626673,AA707296,AB007923,AB007946,AB042555,AB042557,AF086451,AK000835,AK001619,AK021585,AK023588,AK024906,AK124487,AL080213,AL598372,AL831815,AL832024,AL832085,AL833273,BC004860,BC025406,BC078660,BC132717,BC152439,BC152553,BE536412,BE677898,BG527781,BP286699,BU075360,BX647660,CB528730,CB529851,CD364321,CR612016,NM_014644,NM_001002812,NM_001002811,NM_022359,NM_001002810,AL138791,AL138796,AL590452,AA025132,DA400204,DA816062,NM_001198832,NM_001198834,NG_027693 NP_001182189,NP_001182190,CAH18128,Q5TB27,Q5VU43,Q8TBR0,AAI72441,CAH72526,CAH72527,CAH72528,BAA32299,BAA32322,BAB17759,BAB17761,CAD38529,CAD89923,CAD91152,AAH04860,AAH25406,AAH78660,AAI32718,AAI52440,AAI52554,CAH72525,NP_055459,NP_001002812,NP_001002811,NP_071754,NP_001002810,CAI22526,CAI22527,CAI22822,CAI22823,CAI22824,CAI22825,CAI22826,CAI22827,CAH72521,CAH72522,CAH72523,CAH72524,NP_001185761,NP_001185763,ADQ32278 Hs.584841,Hs.613082,Hs.657490,Hs.568247 CMYA2|DKFZp781J054|MGC75440|MMGL cardiomyopathy associated 2|cardiomyopathy-associated protein 2|myomegalin|phosphodiesterase 4D-interacting protein protein-coding 732674 PDE5A phosphodiesterase 5A, cGMP-specific This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq] 1581008,2314459,2314460,2314461,2314462,2314463,2314464,2314469,2314519,2314521,2314468,2314520,2314465,2314467,2314466 20491634,20553468,20555034,20563733,20590607,20595799,18029348,19139381,18757735,18635550,18293931,17906676,17138653,17017938,16690614,16407275,16381901,15817798,15640438,15489336,15489334,15240816,15175637,15093609,14764637,14668322,12955149,12650945,12604588,12554648,12477932,12359732,11896473,11602184,11358813,11230166,11162575,11076863,10859452,10679255,10679249,10411650,10393044,9716380,9714779,9642111,9115850,8889548,2168396,19852267,19996273,20196613,20308615,20332099,20332439,20346360,20351714,20379614,19961855,8557689,20861010 1581008,2314459,2314460,2314461,2314462,2314463,2314464,2314469,2314519,2314521,2314468,2314520,2314465,2314467,2314466 8654 AJ004865,AK290189,AY264918,AY266363,BC126233,BM920622,BM978332,CD511199,NM_001083,NM_033437,NM_033430,AB001635,AC080089,AC093752,AF155195,AF319172,CH471056,AB015656,AF043731,AF043732,AF155192,AF155194 CAA06170,BAF82878,AAP21809,AAP31235,AAI26234,O76074,Q4W5L4,Q9P0K3,Q9P0K4,Q9P0K6,CAL37565,CAL37613,CAL37823,CAL37914,CAL38049,CAL38148,CAL38189,CAL38304,CAL38310,CAL38326,CAL38689,AAF40305,NP_001074,NP_246273,NP_236914,BAA33372,AAY40985,AAF40301,AAF40302,AAK08016,EAX05275,EAX05276,EAX05277,EAX05278,BAA81667,AAC63967,AAC63968,AAF40303 Hs.587281,Hs.647971 CGB-PDE|CN5A|PDE5|PDE5A1 cGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase|cGMP-binding cGMP-specific phosphodiesterase|cGMP-specific 3',5'-cyclic phosphodiesterase|cGMP-specific phosphodiesterase type 5A|phosphodiesterase isozyme 5 protein-coding 1315676 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq] 1580863 1672236,1326553,19946729,7493036,18723146,17110911,15001570,12477932,10393062,10373499,9770645,8889548,7698768,2169289,2155175,20110084,20940301,20591486,20628086,19913121,8557689,20801516 5145 NM_000440,NG_009102,AC008427,AC008545,AF022380,CH471062,BC035909,BC144044,BU734142,BX648986,M26061 NP_000431,AAC33831,EAW61756,EAW61757,AAH35909,AAB69155,O75316,P16499 Hs.567314 CGPR-A|PDEA|RP43 GMP-PDE alpha|PDE V-B1|cGMP phosphodiesterase alpha subunit|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha|rod photoreceptor cGMP phosphodiesterase alpha subunit protein-coding 1322283 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 1315306,1313787,6493,20801516,19946729,8394174,19218616,18854872,18188951,17249578,15489334,12778443,12760810,12477932,11943774,10373499,9543643,8956055,8768262,8698075,8640555,8595886,8557257,8394243,8075643,7951329,7724547,4369896,1720239,1338685,1326553,1322354,20591486,20940301,8557689 5158 NM_001145291,NM_001145292,NG_009839,AC107464,CH471131,X62692,X90587,AI131517,AK295285,AK308789,AK309252,AK316054,BC000249,BC039412,NM_000283,BT009794,BX487988,FJ417399,S41458,X66142 NP_000274,NP_001138763,NP_001138764,EAW82661,EAW82662,CAA44569,CAA62215,BAG58269,BAH14425,AAH00249,AAP88796,AAB22690,CAA46932,P35913,ABM86693,ABW03811 Hs.623810,Hs.654544 CSNB3|CSNBAD2|PDEB|RP40|rd1 GMP-PDE beta|rod cGMP-phosphodiesterase beta-subunit|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta protein-coding 1320406 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 1580863 19615668,19801642,19887631,20351714,20379614,19913121,20628086,8641425,15164054,12477932,11394879,11329013,11076863,10393054,8543163,7490077 5146 NG_016752,NM_006204,AL157396,AL356214,CH471066,U20196,U20197,U20198,U20199,U20200,U20201,U20202,U20203,U20204,U20205,U20206,U20207,U20208,U20209,U20210,U20211,U20212,X94354,BG206143,BG220856,U31973 NP_006195,CAH73839,CAH72330,EAW50063,EAW50064,AAA92886,CAA64079,AAA96392,P51160,AAI11378 Hs.658121 COD4|PDEA2 cGMP phosphodiesterase 6C|cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' protein-coding 1314689 PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 1580863 11980706,9570951,18391951,16527812,16189514,16169070,15489334,12477932,11786539,10518933,10373499,9990021,9781033,9712853,9533031,16473576 5147 CR598500,CR606131,CR609911,AC073476,AF042835,AF045999,CH471063,AF022912,AJ001626,BC001054,BC007831,BC017467,BT007278,CR456980,CR591859,NM_002601 O43924,Q6IB24,ABM84149,ABM87552,NP_002592,AAY24151,AAC25953,AAC39720,EAW70977,EAW70978,AAB87872,CAA04880,AAH07831,AAP35942,CAG33261 Hs.516808 PDED GMP-PDE delta|OTTHUMP00000204404|protein p17|retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta protein-coding 735391 PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1300048,1580863 7828894,16381901,15489336,15489334,14502124,12624098,12477932,12107411,11502744,11230166,11076863,8406511,8125719,2161380,1965799,1683837,20655036,8557689,15215290,19798052,20397626 5148 NR_026872,NM_002602,NG_009834,AC139530,CH471099,U00480,U00482,X62025,BC106884,BQ638010,BQ639132,BQ639341,BX537414,BX647779,EL954528,M36476 NP_002593,EAW89666,AAA03653,CAA43975,AAI06885,CAD97656,AAA60044,P18545,CAL37980,CAL38593 Hs.654482 DKFZp686C0587|MGC125749|PDEG|RP57 GMP-PDE gamma|retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma|rod cG-PDE G protein-coding 1353241 PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 1580863 17207965,8786098,15629837,15489334,12477932,12372317,2162841,15215290,20379614,8889548 5149 NM_006205,AC020613,CH471094,BC069774,BC069800,BC093738,BC093740,D45399,BU729922,EL946662,NG_016859 ADQ32887,NP_006196,EAW96343,AAH69774,AAH69800,AAH93738,AAH93740,BAA08241,Q13956 Hs.54471 RCD3 GMP-PDE gamma|retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma protein-coding 68570 PDE7A phosphodiesterase 7A 2312479,1580863 8389765,18420479,16344560,15994308,12737631,12477932,12388353,12067300,11812656,11371644,11156964,10913353,10393044,9521885,9195912,8009369,20379614,8943082,19913121,20628086 2312479 5150 CR614571,NM_002603,NM_002604,AC055822,AC100812,AJ457788,CH471068,AF332652,AK290801,AK292680,AY266364,BC058025,BC126360,DB146108,U67932,HI504999,HI505001,FB775500 NP_002594,NP_002595,CAD29836,EAW86883,EAW86884,EAW86885,EAW86886,AAK57640,BAF83490,BAF85369,AAP31236,AAI26361,AAB65772,Q13946,Q7Z7I0,Q86V65,CBX54286,CBX54287,CAV30707,ADR83172 Hs.527119,Hs.584788 HCP1|PDE7 TM22|high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A|phosphodiesterase isozyme 7 protein-coding 732248 PDE7B phosphodiesterase 7B The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. 1300048,2312479,1580863 19913121,20628086,19850283,20201926,10618442,10814504,19033455,15489334,12477932,10872825,20558539 2312479 27115 NM_018945,NG_011994,AL133319,AL138828,AL360178,AL512290,CH471051,AB038040,AB209990,AF086025,AJ251860,AK290582,BC070267,BC075082,BC075083,EF108327,HI505003 NP_061818,CAH73332,CAI95286,CAI95287,CAH73075,EAW47956,EAW47957,BAA96537,BAE06072,CAB92441,BAF83271,AAH70267,AAH75082,AAH75083,ABL14249,Q4LE81,Q6NSC8,Q9NP56,ABZ92522,CBX54288 Hs.726482 MGC88256|bA472E5.1 cAMP-specific 3',5'-cyclic phosphodiesterase 7B|high-affinity cAMP-specific 3',5'-cyclic phosphodiesterase|rolipram-insensitive phosphodiesterase type 7 protein-coding 1601777 PDE8A phosphodiesterase 8A Phosphodiesterases (PDEs) regulate the intracellular levels of cAMP and cGMP. These cyclic nucleotides play an important role as second messengers in multiple physiologic processes, including regulation of vascular resistance, cardiac output, visceral motility, immune response, inflammation, neuroplasticity, vision, and reproduction. PDEs comprise a large superfamily of enzymes divided into 10 families. Different PDEs can be distinguished by their structure, tissue expression, localization, substrate specificity, regulation, and sensitivity to PDE inhibitors. Diversity in structure and specificity of function make PDEs promising targets for the pharmacotherapy of diseases modulated by cyclic nucleotide signaling (Hetman et al., MIM 2000). See MIM 171885.[supplied by OMIM] 2312479 9618252,18029348,18983167,15596729,15489334,14702039,12681444,12477932,12045112,11738832,11371644,19913121,20628086,11156964,19482904,20719862 2312479 5151 AL109687,AL109778,AL109789,BC013825,BC017164,BC036190,BC037260,BC048317,BC060762,BC075822,NM_173454,AC027078,AC087468,AF388188,CH471101,AF056490,AF332653,AF388183,AF388184,AF388185,AF388186,AF388187,AK074280,AK122689,AK127232,NM_002605 CAB52020,CAB52432,CAB52453,AAH48317,AAH60762,AAH75822,O60658,Q86XV4,Q9UMB5,NP_002596,NP_775656,EAX01965,EAX01966,EAX01967,EAX01968,EAX01969,EAX01970,AAC39763,AAK57641,AAL18610,AAL18611,AAL18612,AAL18613,AAL18614,BAG53669,BAG54458 Hs.9333 FLJ16150|HsT19550 OTTHUMP00000192898|cAMP-specific cyclic nucleotide phosphodiesterase 8A|high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A|high-affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A protein-coding 1348334 PDE8B phosphodiesterase 8B Cyclic nucleotide phosphodiesterases (PDEs) catalyze hydrolysis of the 5-prime,3-prime-cyclic nucleotides cAMP and cGMP to the corresponding nucleoside 5-prime-monophosphates. Mammalian PDEs have been grouped into several families based on substrate affinities, inhibitor sensitivities, mode of regulation, and amino acid sequence homologies. The PDE8 family contains high-affinity cAMP-specific, IBMX (3-isobutyl-1-methyl-xanthine)-insensitive PDEs, such as PDE8B. All PDEs share a conserved C-terminal catalytic region and a variable N-terminal domain that presumably accounts for the distinctive regulatory properties unique to the individual families.[supplied by OMIM] 2312479,1580863 19820008,20085714,20373981,20379614,9784418,19429701,18514160,18431404,15489334,15144186,14702039,12895443,12681444,12477932,12372422,11502813,10737800,15210883 2312479 8622 NG_023364,BE169437,BF109581,BI005015,BI677296,BU071384,NM_003719,NM_001029852,NM_001029854,NM_001029851,NM_001029853,AC010234,AC022414,AC022422,AY129950,CH471084,AB085824,AB085825,AB085826,AB085827,AF079529,AK002074,AK023913,AL831924,AY129948,AY129949,AY423729,BC035144,BC043209,BC047627 AAH47627,O95263,Q3ZCR2,Q3ZCW6,AAI56216,AAI56988,NP_003710,NP_001025023,NP_001025025,NP_001025022,NP_001025024,AAN71725,AAN71726,AAN71727,EAW95798,EAW95799,EAW95800,EAW95801,EAW95802,EAW95803,EAW95804,BAC53762,BAC53763,BAC53764,BAC53765,AAC69564,BAG51011,BAG51239,CAD38584,AAN71723,AAN71724,AAS00492,AAH35144 Hs.584830 ADSD|FLJ11212|PPNAD3 3',5' cyclic nucleotide phosphodiesterase 8B|cell proliferation-inducing gene 22 protein|high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B|hsPDE8B protein-coding 733534 PDE9A phosphodiesterase 9A The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 19060904,20351714,20379614,8557689,9856478,16780588,19214142,17090334,17008408,16189514,15489334,15210993,14702039,14527714,12565835,12477932,10830953,9624146 5152 CH471079,AF048837,AF067223,AF067224,AF067226,AI492065,AK001165,AK001307,AK127770,AK294112,AK308753,AK314679,AY196299,AY196300,AY196301,AY196302,AY196303,AY196304,AY196305,AY196306,AY196307,AY196308,AY196309,AY196310,AY196311,AY196312,AY196313,AY196314,AY242121,AY701187,BC009047,BT007016,CR599741,AF067225,AK074662,NM_002606,NM_001001567,NM_001001583,NM_001001574,NM_001001579,NM_001001582,NM_001001585,NM_001001570,NM_001001571,NM_001001578,NM_001001577,NM_001001584,NM_001001581,NM_001001568,NM_001001569,NM_001001576,NM_001001573,NM_001001572,NM_001001575,NM_001001580,AB017602,AP001626,AP001627,AP001628,AP001747,CR610522 EAX09531,EAX09532,EAX09533,EAX09534,EAX09535,EAX09536,EAX09537,EAX09538,EAX09539,EAX09540,EAX09541,EAX09542,EAX09543,EAX09544,EAX09545,EAX09546,EAX09547,EAX09548,EAX09549,AAC39778,AAC26723,AAC26724,BAA95552,AAC26725,AAC26726,BAG57446,BAG37232,AAO34685,AAO34686,AAO34687,AAO34688,AAO34689,AAO34690,AAO34691,AAO34692,AAO34693,AAO34694,AAO34695,AAO34696,AAO34697,AAO34698,AAO34699,AAO34700,AAO88210,AAV84271,AAH09047,AAP35662,ACT64465,ACT64466,BAC11120,Q8NCL3,NP_001001570,NP_002597,NP_001001567,NP_001001583,NP_001001574,NP_001001579,NP_001001582,NP_001001585,NP_001001571,NP_001001578,NP_001001577,NP_001001584,NP_001001581,NP_001001568,NP_001001569,NP_001001576,NP_001001573,NP_001001572,NP_001001575,NP_001001580,BAA88847,O76083 Hs.473927 FLJ90181|HSPDE9A2 CGMP-specific 3',5'-cyclic phosphodiesterase type 9|high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A|phosphodiesterase PDE9A21 protein-coding 1605961 PDF peptide deformylase (mitochondrial) Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq] 19064571,12417987,15489958,19236878,15489334,14637138,14532271,12924944,12477932,11060042 64146 NM_022341,AC026464,CH471092,AF239156,AF322879,BC019912,CR624787 NP_071736,EAW83265,EAW83268,AAG33968,AAK15624,AAH19912,Q9HBH1 Hs.130849 peptide deformylase, mitochondrial|peptide deformylase-like protein|polypeptide deformylase protein-coding 736070 PDGFA platelet-derived growth factor alpha polypeptide The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer or as a heterodimer with the platelet-derived growth factor beta polypeptide, where the dimers are connected by disulfide bonds. Studies using knockout mice have shown cellular defects in oligodendrocytes, alveolar smooth muscle cells, and Leydig cells in the testis; knockout mice die either as embryos or shortly after birth. Two splice variants have been identified for this gene. [provided by RefSeq] 2289672,2292153,2292158,2292203,2311066,2298579,2298582,2292156,2292161,2311649,2292155,2292163,1580847,1580863 20534510,18284546,18174235,18084257,17984069,17958740,17944929,17933214,17852407,17578349,16850112,16760468,16462734,16344560,15890262,15829977,15631865,14997209,14708943,14705808,14633628,14573617,12972619,12850832,12670890,12670444,12645527,12615918,12576295,12477932,12411321,11994382,11678848,10681572,10598812,10358027,9837894,9692901,8780057,8486521,3666150,3614364,3614363,3422746,19707201,19956642,20036812,20036815,20083221,20202860,8647855,9739761,291037,2538439,2836953,8900172,7073684,2439522,2536956,3754619,10508235,2842868,9409235,10806482,17470632,287022,19559929,19141566,18992915,18814141,18808740,18592007,18332228,18326546,2832727,2544881,2315311,1848007,1612586,1512241,1505216,1360804,1317862,1311092,1281549,612586,8443409,1997274,20224347,20220555,20485444,20730440 2289672,2292153,2292158,2292203,2311066,2298579,2298582,2292156,2292161,2311649,2292155,2292163,1580847 5154 HC040701,NM_002607,A37535,A37560,A41773,AC147651,AF085245,AJ238420,CH236966,CH471144,CQ858324,CS172381,NM_033023,M19984,M19985,M19986,M19987,M19988,M19989,M20488,M20489,M20490,M20491,M20492,M20493,M20494,M21571,M59423,M83575,S50869,S51624,S62078,AB451309,AB451439,AK292217,AU118732,CS172825,BC109246,BE336646,BQ001096,BQ002008,X03795,X06374,A09204,CS367416 CBH30541,NP_148983,NP_002598,CAA02288,CAA02293,CAA02624,CAB59509,EAW87160,EAW87161,EAW87162,CAH23423,CAJ32894,CAJ32906,AAA60046,AAA60047,AAA60045,AAN76486,AAD13863,AAD13864,AAK29998,AAB26566,BAG70123,BAG70253,BAF84906,AAI09247,CAA27421,CAA29677,P04085,Q32M96,Q9BQF3,Q9UGN0,CAA00830,AAI41594,AAI46595,CAL32765 Hs.535898 PDGF-A|PDGF1 PDGF A-chain|PDGF subunit A|PDGF-1|platelet-derived growth factor A chain|platelet-derived growth factor alpha chain|platelet-derived growth factor alpha isoform 2 preproprotein|platelet-derived growth factor subunit A protein-coding 737124 PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer (PDGF-BB) or as a heterodimer with the platelet-derived growth factor alpha polypeptide (PDGF-AB), where the dimers are connected by disulfide bonds. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 7, at sites where this gene and that for COL1A1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580847,2292179,2292153,2292173,2292200,2292211,2311066,2311646,2298579,2311648,2311650,1581759,2292203,2292195,1580850,1580863 16227675,16149045,16081426,16007151,15956925,15919668,15915457,15826941,15695519,15522237,15496150,15489334,15461802,15081117,14997209,14760763,14705808,14702039,14643521,14595114,12960151,12850832,12850807,12660034,12615918,12576295,12477932,12411321,12176024,12127408,12034531,12023768,11994382,11903042,11854294,11811779,11498506,11331882,10681572,10591208,10485711,10446987,10409733,9692901,9334164,9057949,8988177,8889548,8780057,8697155,8174076,7896901,7659502,6844921,6740330,6336312,6329745,6327048,6318322,6306471,6297002,6091919,4033772,3969118,3517869,3472769,291037,2538439,8900172,7073684,2836953,1661670,17991872,2439522,2536956,9685360,9409235,287022,19498003,19219070,19091791,18973553,18819098,18772331,18758297,18700164,18573259,18570917,18478301,18456732,18420995,18326546,18325189,18310286,18300076,18239136,18075302,18069662,17998143,17981115,17958740,17950782,17944929,17724602,17671690,17626901,17608589,17545544,17518657,17431412,17395886,17341683,17338425,17292826,17229887,17227125,17157157,16893901,16847823,16843106,16777970,16709185,16641085,16596190,16477226,3456904,3275870,3023958,2991848,2845420,2544881,2212004,1906887,1396586,1317862,1311092,15897913,20224347,18471357,19447872,19451595,19576918,19584075,19628565,19635106,19696027,19890351,19956642,20019669,20036421,20042679,20061935,20083221,20233927,20452482,8647855,9739761,17074267,19913121,20485444,20628086,20628624,20673868,20694560,20717068,20950212,20739660,20406730,19728062 1580847,2292179,2292153,2292173,2292200,2292211,2311066,2311646,2298579,2311648,2311650,1581759,2292203,2292195,1580850 5155 NM_033016,NG_012111,A37537,A37562,CH471095,CQ858326,CS172383,CS172827,K01401,K01913,K01914,K01915,K01916,K01917,M19719,X00560,X00561,X00562,X98706,NM_002608,HC040703,Z81010,AK022920,BC029822,BC077725,BM983641,CR456538,CR541807,CR601724,CR620580,M12783,M32009,X02744,X02811,X03702,X83705,CS367418 NP_002599,NP_148937,CAA02289,CAA02294,EAW60305,EAW60306,EAW60307,EAW60308,CAH23424,CAJ32895,CAJ32907,AAA60552,AAA98793,AAA60349,CAA25227,CAA25228,CAA25229,CAA25230,CBH30542,CAA67262,CAB02635,AAH29822,AAH77725,CAG30424,CAG46606,AAA60553,CAA26524,CAA26579,CAA27333,CAA58679,P01127,P78450,Q15354,Q9UE56,Q9UE57,CAK54569,CAK54868,CAL32766 Hs.1976 FLJ12858|PDGF2|SIS|SSV|c-sis OTTHUMP00000198982|OTTHUMP00000198983|PDGF subunit B|PDGF, B chain|PDGF-2|Platelet-derived growth factor, beta polypeptide (oncogene SIS)|becaplermin|platelet-derived growth factor 2|platelet-derived growth factor B chain|platelet-derived growth factor subunit B|platelet-derived growth factor, B chain|proto-oncogene c-Sis protein-coding 68605 PDGFC platelet derived growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. [provided by RefSeq] 19111878,19092777,18588873,18573494,17482170,16443219,15911618,15728360,15389578,15061151,12975309,12707385,12598536,12477932,12176024,12032822,11342471,11313995,11297552,11004490,10858496,10806482,19913121,20485444,20628086,20634891,20673868,15207811,19553600,19569180,19786962,19968886,20452482,20819778 56034 NM_016205,AC092608,AC093325,CH471056,CQ858328,CS019501,CS070836,AB033831,AF091434,AF244813,AF260738,AK300480,AK304638,AK313817,AY358493,BC041783,BC051876,BC094746,BC136662,BC144348,AI446155,NR_036641,AM922296,CS367440,CS430816,GM867508 NP_057289,AAY40906,EAX04874,EAX04875,CAH23469,CAI58839,CAI93202,BAB03266,AAF00049,AAF80597,AAK51637,BAG62196,BAG65417,BAG36553,AAQ88857,AAI36663,Q9NRA1,CAP58278,CAL33851,CAL60145,CAT16763 Hs.570855 FALLOTEIN|SCDGF OTTHUMP00000220752|PDGF-C|VEGF-E|platelet-derived growth factor C|secretory growth factor-like protein|spinal cord-derived growth factor protein-coding 1604286 PDGFD platelet derived growth factor D The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq] 19028801,18997817,18600092,18573494,18403754,18258854,18187181,18056465,16189269,15988036,15611105,15489334,15271796,14514732,12975309,12477932,12427128,12107412,11980634,11342471,11331882,11331881,11162582,20406896,15207811,18471357,19357108,19544444,19733850,20379614,19913121,20628086 80310 BC030645,BG722948,NM_033135,AP003043,AP003502,AP004551,CH471065,CQ858309,AB033832,AF113216,AF335584,AF336376,AI962915,AK292801,AY027517,AY027518,AY359116,NM_025208,GM867543,HC437559 AAH30645,Q9GZP0,NP_079484,NP_149126,EAW67045,EAW67046,CAH23468,BAB18903,AAG39287,AAK38840,AAK56136,BAF85490,AAK20081,AAK20082,AAQ89474,CAT16765,CBJ57251 Hs.352298 IEGF|MGC26867|MSTP036|SCDGF-B|SCDGFB PDGF-D|iris-expressed growth factor|platelet-derived growth factor D|spinal cord derived growth factor B|spinal cord-derived growth factor B|spinal cord-derived growth factor-B protein-coding 730916 PDGFRA platelet-derived growth factor receptor, alpha polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. [provided by RefSeq] 1580848,1580849,2292154,2292178,2292163,2298578,2298580,2298579,2292156,2292165,1580851,2292157,2292177,2292199,2292203,1580863,2324850,2324851 20800603,20615084,20425130,20686603,2536956,10806482,2542288,10508235,17470632,19648886,19563658,19496203,19411681,19393245,19351817,19335066,19333949,19333919,19326424,19307738,19302534,19291337,19248967,19215021,19212337,19126548,19118897,19115205,19074885,19047372,19035305,18992915,18987651,18978678,18955458,18950958,18758297,18706197,18701889,18686281,18679424,18633616,18618605,18615679,18548106,18547963,18519768,18464291,18416137,18360281,18326546,18314611,18312355,18288404,18284546,18265649,18193045,18190445,18187489,18157090,18084259,18077793,18070887,18042065,17881156,17827398,17762857,17701174,17690840,17673922,17623951,17591942,17568391,17566086,17532173,17448020,17438095,17377585,17363728,17344284,17299092,17298867,17261495,17214097,17193822,17145809,17137731,17079230,17070723,17047316,16892550,16850112,16804324,16785193,16730575,16697720,16690743,16685437,16675559,16502585,16498388,16373964,16357008,16344560,16331269,16305343,16283668,16186508,16168125,16135486,16126374,16116920,15928335,15897742,15894928,15871904,15862965,15791568,15685537,15674355,15635072,15492989,15489334,15380338,15326474,15284118,15154005,14766209,14745431,14741194,14630792,12842979,12808148,12660384,12522257,12477932,12176024,12119411,12023424,11953315,11882663,11776032,11752456,11468294,11342471,11297552,11279102,11175793,11046132,10837138,10733900,10066366,9819414,9546424,9484840,8943348,8894141,8774134,8702949,8647858,8617789,8586421,8486649,8261442,8188664,7896447,7665222,7535778,7523122,7519254,2544881,2531695,2161888,18331602,1847074,1711435,9234717,19756614,20651400,20861712,20889717,11095946,18197502,18492696,18636362,19333543,19448595,19614767,19644140,19649203,19675092,19694830,19696981,19707201,19717644,19755855,19779861,19787330,19839721,19843560,19846951,19861461,19862822,19900103,19936766,19943934,19956635,20001342,20023271,20036812,20071345,20129251,20133985,20169295,20379614,20393746,20424473,20442296,20453000,20470368,8647855,9739761,20479398,21092857,20139978,20598160,19913121,20485444,20628086,20634891,20718716 1580848,1580849,2292154,2292178,2292163,2298578,2298580,2298579,2292156,2292165,1580851,2292157,2292177,2292199,2292203,2324850,2324851 5156 NM_006206,NG_009250,AC098587,AC138779,CH471057,CS172399,CS172821,D50017,AA599881,AV689272,BC015186,BC063414,DA678599,L25829,M21574,M22734,M30494,X76079,AA625689,AK308353,AK311006,AK316578,HC040719,CS566148 NP_006197,EAX05457,EAX05458,CAJ33669,CAJ33686,BAA08742,BAG38166,AAH15186,AAH63414,AAA96715,AAA60048,P16234,Q6P4H5,CBH30545,CAN37625 Hs.74615 CD140A|MGC74795|PDGFR2|RHEPDGFRA CD140 antigen-like family member A|CD140a antigen|OTTHUMP00000218656|PDGF-R-alpha|PDGFRA/BCR fusion|alpha-type platelet-derived growth factor receptor|rearranged-in-hypereosinophilia-platelet derived growth factor receptor alpha fusion protein protein-coding 732897 PDGFRB platelet-derived growth factor receptor, beta polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq] 1580850,1580851,2292203,2292200,2292214,2292206,2292178,2292228,2292215,2292198,2298578,2311646,2298579,2292211,2311654,2292174,2292176,2290496,1580863 19280218,20534510,17448020,17431412,17403678,17363728,17344284,17301821,17298867,17296564,17229632,17145809,17082185,17047316,16899864,16617096,16407661,16189514,16149045,16007172,15994317,15987639,15944146,15902258,15862965,15791568,15763428,15665766,15640155,15630487,15588985,15522237,15504957,15489334,15380338,15340161,15284236,15271984,15146197,15087372,15054045,14996833,14973141,14966296,14871970,14745431,14705808,14657000,14612918,14514732,12941951,12933652,12700668,12681492,12480944,12477932,12177062,12062403,11919393,11903042,11896619,11882663,11861293,11567151,11350938,11331882,11331881,11172806,11046132,11027258,10964931,10806474,10805725,10733900,10697503,10514377,10391677,10022833,9989826,9920285,9819414,9808151,9506992,9492013,9484840,9425276,9373237,9362449,9285559,9207175,9057949,9006901,8947043,8943344,8940081,8702949,8657151,8647858,8617789,8586421,8549654,8443409,8302579,8195171,8041791,7935391,7693727,7691811,7688466,7685273,7665222,7545675,7523122,3107886,2850496,2846185,2835772,2550144,2531695,2475255,2173144,2161888,2157284,1847074,1720539,1696179,1374684,1372092,10026169,9737977,1333047,11266449,10066366,10938113,15889147,7689724,8344248,1385407,7876130,7592796,7537362,8388538,8890167,17158602,19913121,20505768,20571834,20628086,20628624,16456542,16477012,17981115,18492696,19167335,19369415,19497963,19542682,19582773,19636022,19644140,19696027,19717644,19839721,19843560,19952113,20103629,20164181,20197394,20377208,20424473,20453000,8647855,9739761,20610572,2536956,2542288,17991872,17470632,10821867,19386600,19377443,19333949,19302534,19242504,19180499,19115205,19092051,19074885,19074160,19041155,19035305,19028276,19016370,19006078,18950621,18809244,18697203,18621860,18593464,18541413,18524994,18519768,18483410,18369471,18331602,18326546,18288404,18262053,18157090,18077793,17872908,17727656,17620338,17599906,17584975,17568996,17462601,20510677,20637704,20950212 1580850,1580851,2292203,2292200,2292214,2292206,2292178,2292228,2292215,2292198,2298578,2311646,2298579,2292211,2311654,2292174,2292176,2290496 5159 NG_023367,NM_002609,AC005895,AC011382,CH471062,U33172,AB209657,AI346188,AK293093,BC032224,CN268096,CR593034,EU826595,J03278,M21616,M30493 NP_002600,EAW61746,EAW61747,EAW61748,AAC51675,BAD92894,BAF85782,AAH32224,ACF47631,AAA60049,AAA36427,P09619,Q59F04,ABM83050,ABW03350 Hs.509067 CD140B|JTK12|PDGFR|PDGFR1 CD140 antigen-like family member B|PDGF-R-beta|beta-type platelet-derived growth factor receptor protein-coding 1317560 PDGFRL platelet-derived growth factor receptor-like This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq] 1580863 15226608,16270321,16552773,18366601,18442402,20237496,20333786,7898930,15489334,12477932,7519877 5157 BQ446405,NM_006207,AB020863,AC124069,AP006248,CH471080,CS208027,AK289450,BC010927,CR541952,CR596869,CR605626,D37965,NG_023332,HB867212 NP_006198,EAW63811,CAJ44939,BAF82139,AAH10927,CAG46750,BAA07179,Q15198,ABM83870,ABM87191,CBF57592 Hs.458573 PDGRL|PRLTS OTTHUMP00000161390|PDGF receptor beta-like tumor suppressor|PDGFR-like protein|platelet-derived growth factor receptor-like protein|platelet-derived growth factor-beta-like tumor suppressor protein-coding 736556 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA. The PDH complex is composed of multiple copies of 3 enzymes: E1 (PDHA1); dihydrolipoyl transacetylase (DLAT; MIM 608770) (E2; EC 2.3.1.12); and dihydrolipoyl dehydrogenase (DLD; MIM 238331) (E3; EC 1.8.1.4). The E1 enzyme is a heterotetramer of 2 alpha and 2 beta subunits. The E1-alpha subunit contains the E1 active site and plays a key role in the function of the PDH complex (Brown et al., 1994 [PubMed 7853374]).[supplied by OMIM] 1300048,2307427,731230,1580863 17353931,3034892,18398624,18023225,17957032,17947500,17081983,17065338,16967364,16713755,16344560,15489334,15302935,14708897,14638692,12676647,12651851,12477932,11486000,11485553,10077682,9799265,9671272,9373149,9029794,9003499,8844217,8664900,8504306,8498846,8199595,8125298,8032855,7967473,7887409,7853374,7757088,7573035,7545958,3422424,2828359,2748588,2745444,2737678,2537010,2227443,1909401,1551669,1338114,1301207,1293379,7864652,16169070,15861126,20002461,19586787,19615732,2377599,7273846,7782287,20562859 2307427,731230 5160 AF125064,NM_000284,AF085457,AF125053,AF125054,AF125055,AF125056,AF125057,AF125058,AF125059,AF125060,AF125061,AF125062,AF125063,AF125065,AF125066,AF125067,AF125068,AF125069,AF125070,AF125071,AF125072,AF125073,AF125074,AF125075,AF125076,AF125078,AF125079,AF125080,AF125081,AF125082,AF125083,AF125084,AF125085,AF125086,AF125087,AF125088,AL732326,CH471074,D90084,M21447,M27257,U75933,U75934,U75935,U75936,U75937,U75938,U75939,U75940,AK129887,AK222740,AK222988,AK293250,AK296341,AK296457,AK312263,AW204705,BC002406,CR590359,CR592178,CR604489,CR604641,CR605170,CR609764,CR614198,CR614489,CR615265,CR616765,CR624456,CR625908,DA075402,DC361191,EF576990,EF590116,EF590117,J03503,J03575,L13318,L48690,M24848,X52709,X52710,BU170389,NG_016781,NM_001173454,NM_001173455,NM_001173456,R49470 NP_000275,AAD16047,AAD23841,AAD23842,AAD23843,AAD23844,AAD23845,AAD23846,AAD23847,AAD23848,AAD23849,AAD23850,AAD23851,AAD23852,AAD23853,AAD23854,AAD23855,AAD23856,AAD23857,AAD23858,AAD23859,AAD23860,AAD23861,AAD23862,AAD23863,AAD23864,AAD23866,AAD23867,AAD23868,AAD23869,AAD23870,AAD23871,AAD23872,AAD23873,AAD23874,AAD23875,AAD23876,CAI41287,CAI41288,CAI41289,CAI41290,CAI41291,CAI41292,EAW98960,EAW98961,BAA14121,AAA31853,AAA60051,AAB39723,AAB39724,AAB39725,AAB39726,AAB39727,AAB39728,AAB39729,AAB39730,BAD96460,BAD96708,BAH11476,BAH12323,BAH12361,BAG35194,AAH02406,ABQ58815,ABQ59099,AAA60055,AAA60050,AAA60227,AAB59581,AAA36533,CAA36933,CAA36934,P08559,P78557,Q53GE3,Q5JPT9,Q5JPU0,Q5JPU1,Q5JPU2,Q5JPU3,Q6LCA3,Q99724,Q99725,Q9NP11,Q9UNV7,ABM82791,ABM85980,ABM85983,NP_001166925,NP_001166926,NP_001166927 Hs.530331 PDHA|PDHCE1A|PHE1A PDHE1-A type I|pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial|pyruvate dehydrogenase complex, E1-alpha polypeptide 1 protein-coding 1351234 PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2 2307427,1580863 2249846,17081983,15489334,12477932,11673873,11577086,11181995,10542321,7864652,2122529,1581363,20005141,20877624 2307427 5161 NM_005390,AC093828,CH471057,M86808,U23825,AK313872,BC030697,BC066953,BC094760,BC119656,BC119657,BC127637,BC127638,HC007208,HC044521 NP_005381,EAX06063,AAA60232,AAF14652,BAG36600,AAH30697,AAH66953,AAH94760,AAI19657,AAI19658,AAI27638,AAI27639,P29803,CBH19409,CBH30590 Hs.131361 MGC149517|MGC149518|PDHAL PDHE1-A type II|pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial|pyruvate dehydrogenase, E1-alpha polypeptide, testis specific protein-coding 1343920 PDHB pyruvate dehydrogenase (lipoamide) beta 1580863,2307427,1599115 18468620,14638692,15967462,20877624,12676647,16344560,7273846,8889548,2376596,18206651,18164639,17923481,16381901,15489336,15489334,15138885,12651851,12477932,11577086,11230166,11076863,9824306,9373149,8125298,7895732,7864652,3422424,2829898,2377599,2323578,2295468,1967901,1702713 2307427,1599115 5162 BM971427,DA965753,DB039833,NG_016860,NM_001173468,NR_033384,AC135507,CH471055,D90086,AB209241,AK225569,AK225621,AK293153,AK311514,AK313022,AL117618,AL706543,BC000439,BC001924,BC004115,CR541911,CR591704,CR594405,CR595069,CR595868,CR596425,CR596462,CR597137,CR597691,CR604454,CR604919,CR612410,CR617052,CR618291,CR618835,CR625583,J03576,M19123,M34055,M34056,M34479,M54788,X57778,NM_000925 NP_001166939,NP_000916,EAW65371,EAW65372,EAW65373,BAA14123,BAD92478,BAG56698,BAG35857,CAB56017,AAH00439,AAH01924,CAG46709,AAA88097,AAA60052,AAA60233,AAA60054,AAA36428,AAA60053,CAA40924,P11177,Q59G68,CAL37877,CAL38156,ABM82292,ABM85472 Hs.161357 DKFZp564K0164|PHE1B OTTHUMP00000214203|OTTHUMP00000214204|OTTHUMP00000214205|PDHE1-B|pyruvate dehydrogenase E1 component subunit beta, mitochondrial|pyruvate dehydrogenase, E1 beta polypeptide protein-coding 1352009 PDHX pyruvate dehydrogenase complex, component X The PDHX gene encodes component X of the pyruvate dehydrogenase (PDH) complex. For a detailed description of the pyruvate dehydrogenase complex, see MIM 300502. The mammalian PDH complex differs from that in E. coli and from the other mammalian alpha-keto acid dehydrogenases by the presence of a 53-kD protein called protein X. Component X binds to the E3 (MIM 238331) component of the PDH complex (Robinson et al., 1990 [PubMed 2112155]; Aral et al., 1997 [PubMed 9399911]).[supplied by OMIM] 1580863,2307427 20800603,20877624,17024456,16843025,16629643,16566017,16442803,16344560,16263718,16189514,15489334,14638692,12816949,12573248,12477932,12372595,11935326,11756538,9467010,9399911,9242632,9110174,8619474,8584393,7864652,2112155,10568747,12676647,16904023,7273846 2307427 8050 NM_003477,NM_001135024,AC107928,AJ298105,AL138810,CH471064,AA282215,AF001437,AF052166,AK301384,AK312463,BC010389,BI915296,BX648910,CR597392,DA573433,U79296,U82328,Y13145,NG_013368,NM_001166158 NP_003468,NP_001128496,CAC18649,EAW68158,EAW68159,EAW68160,AAB66315,BAG62924,BAG35370,AAH10389,AAB50223,AAC39661,CAA73606,O00330,NP_001159630 Hs.502315 DLDBP|E3BP|OPDX|PDX1|proX dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex|lipoyl-containing pyruvate dehydrogenase complex component X|pyruvate dehydrogenase complex, E3-binding protein subunit|pyruvate dehydrogenase complex, lipoyl-containing component X|pyruvate dehydrogenase protein X component, mitochondrial protein-coding 1313029 PDIA2 protein disulfide isomerase family A, member 2 Protein disulfide isomerases (EC 5.3.4.1), such as PDIP, are endoplasmic reticulum (ER) resident proteins that catalyze protein folding and thiol-disulfide interchange reactions (Desilva et al., 1996 [PubMed 8561901]).[supplied by OMIM] 1580863 17474147,8561901,12095988,19429457,19187238,19150607,19103594,18801374,18691554,18508857,17978580,17055437,16677073,16407203,16344560,15489334,15225124,14684740,12766950,12485997,12477932,11968009,11488911,11157797,16507315,14592831,12218052,12218051,14500733,14980518,19636846,19805615,19821078,19844948,20098615,8537405,20562109,20550946,20163832,20130085,19913121,20448108,20516074,20628086,20423326,20368688 64714 NM_006849,AE006463,CH471112,Z69667,AK075485,AK124931,AK295383,AK308516,BC000537,BC027964,BC075029,DA207692,U19948,Z84717 NP_006840,AAK61223,EAW85838,CAI95586,CAI95587,CAI95588,CAO78188,BAG52154,BAG54115,BAG58339,AAH00537,AAH75029,AAC50401,Q13087,Q4TT65,Q4TT66,AAI67826 Hs.66581 PDA2|PDI|PDIP|PDIR Rho GDP dissociation inhibitor gamma|pancreas-specific protein disulfide isomerase|pancreatic protein disulfide isomerase|protein disulfide isomerase A2|protein disulfide isomerase, pancreatic|protein disulfide isomerase-associated 2|protein disulfide-isomerase A2 protein-coding 1606336 PDIA3 protein disulfide isomerase family A, member 3 This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. [provided by RefSeq] 18303019,20506389,9399589,3398923,16368681,17055437,8624847,7487104,16130169,19119025,19054761,18650385,18039656,17964282,17848102,17822402,17728248,17704119,11842220,11840567,11832422,10508608,10436013,9545232,9205111,9153243,9150948,9150946,8974399,8805302,8687406,8529662,1602151,1286669,1286667,16182193,15644496,12218052,12218051,12052826,17456022,17188166,17170699,17150345,17081065,17061245,16962936,16940051,16428306,16341674,16303743,16236267,16193070,16002696,15952740,15896298,15862831,15606899,15489334,15451439,15328618,15236594,14871899,14871896,14732712,12665801,12643545,12477932,12239218,12235131,12162574,12060494,12032078,10929008,20596667,20596672,17467700,18029348,19064571,19411306,19701894,19714814,19995546,20029959,20035634,20064506 2923 AAB37397 NM_005313,NG_005156,AC018512,CH471082,CS288579,U75875,U75876,U75877,U75878,U75879,U75880,U75881,U75882,U75883,U75884,U75885,AI769725,AK075455,AK075481,AK293249,BC014433,BC036000,BC071878,BE644608,BG826781,BM854408,CR591129,CR595412,CR600812,CR602263,CR603011,CR608000,CR614986,CR618900,CR623113,D16234,D83485,U42068,Z49835 NP_005304,EAW77234,EAW77235,EAW77236,CAK18760,AAC51518,BAG52144,BAG52151,BAG56782,AAH14433,AAH36000,AAH71878,BAA03759,BAA11928,AAC50331,CAA89996,AAB37397,P30101,ABM83996,ABM87324 Hs.591095,Hs.712781 ER60|ERp57|ERp60|ERp61|GRP57|GRP58|HsT17083|P58|PI-PLC 58 kDa glucose-regulated protein|58 kDa microsomal protein|ER protein 57|ER protein 60|disulfide isomerase ER-60|endoplasmic reticulum P58|endoplasmic reticulum resident protein 57|endoplasmic reticulum resident protein 60|glucose regulated protein, 58kDa|phospholipase C-alpha|protein disulfide isomerase-associated 3|protein disulfide-isomerase A3 protein-coding 1348495 PDIA3P protein disulfide isomerase family A, member 3 pseudogene 9205111 171423 NR_002305,AL356378,U75886,BI712496,BM555251 Hs.658566 ERp60|GRP58P pseudo 1605716 PDIA4 protein disulfide isomerase family A, member 4 17353931,2295602,18620548,17081065,16344560,15489334,12690205,12643545,12477932,12475965,12397072,9847074,9694898,9006956,2549034,2002068,1512535,1318337,16182193,15644496,12218052,12218051,10887119,19834535 9601 NM_004911,AACC02000041,AC093743,CH471146,CS288587,AK290971,AK313299,AU139362,BC000425,BC001928,BC006344,BC011754,BX330378,CR605024,CX871856 NP_004902,EAL24425,AAQ96863,EAW80065,EAW80066,CAK18764,BAF83660,AAH00425,AAH01928,AAH06344,AAH11754,P13667,ABM84499,ABM85273 Hs.93659 ERP70|ERP72|ERp-72 ER protein 70|ER protein 72|endoplasmic reticulum resident protein 70|endoplasmic reticulum resident protein 72|protein disulfide isomerase related protein (calcium-binding protein, intestinal-related)|protein disulfide isomerase-associated 4|protein disulfide-isomerase A4 protein-coding 1605694 PDIA5 protein disulfide isomerase family A, member 5 20379614,7556671,16713569,14702039,14627699,12477932,16182193,15644496,12218052,12218051,20796029,16712791 10954 BM549365,CA414869,CB158962,NR_028444,CR610992,CR621275,CR622230,D49490,NM_006810,AC083797,CH471052,AK054963,BC001625,CR607134,CR608001 BAA08451,Q14554,Q9BV43,NP_006801,EAW79452,EAW79453,EAW79454,EAW79455,EAW79456,AAH01625 Hs.477352 FLJ30401|PDIR protein disulfide isomerase-associated 5|protein disulfide isomerase-related protein|protein disulfide-isomerase A5 protein-coding 1354298 PDIA6 protein disulfide isomerase family A, member 6 Protein disulfide isomerases (EC 5.3.4.1), such as PDIA6, are endoplasmic reticulum (ER) resident proteins that catalyze formation, reduction, and isomerization of disulfide bonds in proteins and are thought to play a role in folding of disulfide-bonded proteins (Hayano and Kikuchi, 1995 [PubMed 7590364]).[supplied by OMIM] 1580863 17353931,7590364,15308636,16130169,17495932,17081983,17081065,16964243,16396496,16236267,15952740,15489334,15466936,15302935,14702039,12643545,12477932,12204115,9373149,9110174,8619474,8125298,1602151,16182193,15644496,12218052,12218051,17215244,19887585,20379614 10130 AC092687,CH471053,AK127433,AK131234,AK225496,AK289428,AK294347,AK297547,BC001312,BF979486,BM511594,CR590867,CR593821,CR594255,CR595109,CR595577,CR595714,CR599723,CR601036,CR601561,CR602648,CR602748,CR606166,CR606263,CR607388,CR608056,CR608933,CR614510,CR617062,CR618905,CR620116,CR622384,CR624923,D49489,U79278,NM_005742 NP_005733,AAY24070,EAX00949,EAX00950,BAC86977,BAG54757,BAF82117,BAH11740,BAH12614,AAH01312,BAA08450,AAB50217,Q15084,Q53RC7,ABM82112,ABM85295 Hs.212102 ERP5|P5|TXNDC7 ER protein 5|OTTHUMP00000200409|OTTHUMP00000200410|endoplasmic reticulum protein 5|protein disulfide isomerase P5|protein disulfide isomerase-associated 6|protein disulfide isomerase-related protein|protein disulfide-isomerase A6|thioredoxin domain containing 7 (protein disulfide isomerase)|thioredoxin domain-containing protein 7 protein-coding 1352576 PDIK1L PDLIM1 interacting kinase 1 like 1580863 16710414,16344560,15489334,14631099,12477932,8889548,19756140,8597870 149420 NR_026685,NR_026686,NM_152835,AL391650,CH471059,AF411102,AK312872,AL137407,AL834290,BC028713,BC035401,BU742621,DB233669 NP_690048,CAI17134,CAI17135,EAX07845,EAX07846,EAX07847,AAN03661,BAG35724,CAD38964,AAH28713,Q8N165 Hs.468801 CLIK1L|RP11-96L14.4|STK35L2 OTTHUMP00000008703|OTTHUMP00000008704|PDLIM1-interacting kinase 1-like|casein kinase|serine/threonine-protein kinase PDIK1L protein-coding 1602970 PDILT protein disulfide isomerase-like, testis expressed 15475357,14702039,12477932,20383146 204474 NM_174924,AC106796,AC137056,CH471186,AK097476,BC042607,BC044936 NP_777584,EAW50316,BAC05068,AAH42607,AAH44936,Q8N807 Hs.376025 PDIA7 protein disulfide isomerase family A, member 7|protein disulfide isomerase-like protein of the testis|protein disulfide-isomerase-like protein of the testis protein-coding 69480 PDK1 pyruvate dehydrogenase kinase, isozyme 1 Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. [provided by RefSeq] 2307427,2307428,1580863 7499431,10748151,19443706,19194729,19146951,18954447,18542064,18495460,18298949,18204440,18184863,18003900,17785433,17683942,17327236,16737971,16517405,16344560,16251192,15591305,15489334,14966024,14718574,14702039,14500673,12676647,12573248,12477932,12374740,12177059,11978179,11781095,11486000,11485553,11313365,11278835,11222751,10995762,10896934,10753910,10480933,10357815,9748166,9707564,9512493,9445476,7864652,12150926,11733037,11889038,10567431,15678105,20197379,20385558,20415663,20361045,20643654,19010391,19910471,19920149,20416077,11279232,20877624,21035469,21048031 2307427,2307428 5163 NM_002610,AC018712,AC093818,CH471058,AK056110,AK294194,AK302321,AK304388,AK312700,AU118504,BC039158,CR594556,DQ234350,L42450 BAH14173,NP_002601,AAY14915,EAX11173,EAX11174,BAH11693,BAH13672,BAG35578,AAH39158,ABB29979,AAC42009,Q15118,Q308M4,Q53R49,ABM82226,ABM84274,ABM85410,ABM87667 Hs.470633 OTTHUMP00000205076|OTTHUMP00000205082|[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial|mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1|pyruvate dehydrogenase kinase, isoenzyme 1|pyruvate dehydrogenase kinase, isozyme 1 protein-coding 69481 PDK2 pyruvate dehydrogenase kinase, isozyme 2 2307427,2307428,1580863 15491151,15491150,15489334,15169745,14702039,12816949,12676647,12573248,12477932,11978179,11701428,11486000,11485553,11483605,10748134,10438924,10191262,7499431,18029348,19194729,19147752,18220415,18220414,17669420,16962287,16517984,16401071,15955060,11642366,15020699,15504108,16344560,20877624,16169070,19833728 2307427,2307428 5164 AC002401,NM_002611,CH471109,AK055119,AK290522,AK293600,AK297089,BC005811,BC040478,BC063137,L42451,AW302405,AW469593,BQ024783,BQ071206,DA199055,NM_001199898,NM_001199899,NM_001199900,XR_109402,XR_111716,XR_115120 NP_002602,EAW94642,EAW94643,EAW94644,BAG51472,BAF83211,BAG57064,BAG59604,AAH05811,AAH40478,AAH63137,AAC42010,Q15119,NP_001186827,NP_001186828,NP_001186829 Hs.256667 PDHK2 OTTHUMP00000220890|OTTHUMP00000220957|[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 2, mitochondrial|pyruvate dehydrogenase kinase, isoenzyme 2|pyruvate dehydrogenase kinase, isozyme 2|pyruvate dehydrogenase, lipoamide, kinase isozyme 2, mitochondrial protein-coding 1343163 PDK3 pyruvate dehydrogenase kinase, isozyme 3 2307427,2307428,1580863 17683942,7499431,18718909,17669420,17532006,16849321,15489334,15226823,14966024,12676647,12477932,12476789,11978179,11486000,11485553,10748134,15861126,20029029 2307427,2307428 5165 NM_001142386,NM_005391,AC004552,AC004656,CH471074,AI080664,AK301965,AW173304,BC015948,BG717206,CR606226,CR626205,L42452,AI001064,BC038512,BI549903,BU069975,NG_016762 NP_001135858,NP_005382,EAW99019,EAW99020,BAG63378,AAH15948,AAC42011,Q15120 Hs.296031 [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3, mitochondrial|pyruvate dehydrogenase kinase, isoenzyme 3|pyruvate dehydrogenase kinase, isozyme 3|pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial protein-coding 69113 PDK4 pyruvate dehydrogenase kinase, isozyme 4 This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq] 2307427,2307428,1580863 8798399,18660489,18658136,18519799,17669420,17652214,16757381,16344560,15955060,15776585,15721319,15618316,15581486,15516373,15489334,15047604,14966024,14702039,12853948,12690205,12676647,12606505,12582211,12573248,12477932,12145475,11978179,11701428,11486000,11485553,11001762,9787110,9373149,8125298,7499431,18468620,20877624 2307427,2307428 5166 NM_002612,AC002451,CH236949,CH471091,U54618,U54619,U54620,U54621,U54622,U54623,U54624,U54625,U54626,U54627,U54628,AF334710,AK096428,AK098151,AK223328,AK312424,BC040239,CR590426,DA923767,DB035430,U54617 Q16654,Q53FG1,ABM82182,ABM85367,NP_002603,AAB67048,EAL24127,EAL24128,EAW76757,EAW76758,EAW76759,AAC50670,BAG53287,BAG53583,BAD97048,BAG35334,AAH40239,AAC50669 Hs.8364 FLJ40832 [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial|pyruvate dehydrogenase kinase, isoenzyme 4|pyruvate dehydrogenase kinase, isozyme 4|pyruvate dehydrogenase, lipoamide, kinase isozyme 4, mitochondrial protein-coding 68448 PDLIM1 PDZ and LIM domain 1 1580863 16169070,16385451,8522188,19204726,17213842,16609848,16189514,15592455,15489334,15164054,15144186,12665801,12477932,12464179,11973348,11882901,11110697,10861853,19117995,10022510,10753915 9124 CH471066,AJ310549,AK314792,BC000915,BC018755,CR592503,CR592822,CR593176,CR595649,CR597094,CR597896,CR598004,CR598061,CR598764,CR603182,CR603427,CR603481,CR605659,CR606954,CR607916,CR609039,CR610518,CR612014,CR614157,CR617851,CR619278,CR620933,CR621510,CR622661,CR623245,CR625777,U90878,NM_020992,AL157834,AL160288,AY923052 AAW82438,EAW50009,EAW50010,EAW50011,EAW50012,CAC32846,BAG37323,AAH00915,AAH18755,AAC05580,O00151,ABZ92393,NP_066272,CAH72341,CAH70720 Hs.368525 CLIM1|CLP-36|CLP36|hCLIM1 C-terminal LIM domain protein 1|LIM domain protein CLP-36|PDZ and LIM domain 1 (elfin)|PDZ and LIM domain protein 1|carboxy terminal LIM domain protein 1|carboxyl terminal LIM domain protein 1|elfin|enigma|pdz and lim domain 1 protein-coding 1353771 PDLIM1P PDZ and LIM domain 1 pseudogene 326616 NG_002606,AL117692 pseudo 1345506 PDLIM2 PDZ and LIM domain 2 (mystique) 12493773,19052146,17468759,15659642,15498874,15489334,14702039,12477932,11214971,8889548,18029348,19794962,20185823,20838382 64236 AF289563,AK024498,AK027800,AK055582,AK055782,AK056748,AK074031,AK090432,AK092968,AY007729,AY070438,AY217349,BC021556,BC071774,BU624103,BU737724,CR594495,CR596366,CR608632,CR623059,BM674373,DN997519,NM_021630,NM_176871,NM_198042,AC037459,CH471080 EAW63668,EAW63669,EAW63670,EAW63671,AAL55747,BAB15788,BAB55378,BAG51802,BAB84857,BAC03413,AAG16633,AAL65265,AAO45102,AAH21556,AAH71774,Q8TET9,Q96JY6,ABM84590,ABW03503,NP_067643,NP_789847,NP_932159,EAW63664,EAW63665,EAW63667 Hs.632034 FLJ34715|MYSTIQUE|SLIM OTTHUMP00000162522|OTTHUMP00000205198|OTTHUMP00000205199|OTTHUMP00000205200|OTTHUMP00000205201|OTTHUMP00000205202|OTTHUMP00000205203|OTTHUMP00000205207|PDZ and LIM domain protein 2|PDZ-LIM protein mystique protein-coding 1351346 PDLIM3 PDZ and LIM domain 3 The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. This gene is found near a region of chromosome 4 that has been implicated in facioscapulohumeral muscular dystrophy, but this gene does not appear to be involved in the disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16192291,18029348,19412328,17258832,17254821,15489334,15084604,12477932,10063829,9373149,9334352,8828038,8125298 27295 NM_001114107,AC106897,CH471056,NM_014476,AF002280,AF002282,AF039018,AK129863,AK222966,AK313253,BC001017,BC027870,BI913867,BT007341,BX647263,CR605535,CR622133,CR739525,AK129607 NP_055291,NP_001107579,EAX04638,EAX04639,EAX04640,EAX04641,AAC16670,AAC16672,AAB96665,BAD96686,BAG36063,AAH27870,AAP36005,Q53GG5,BAC85195,Q6ZPB9 Hs.442702 ALP|DKFZp686L0362|FLJ26096 PDZ and LIM domain protein 3|actinin-associated LIM protein|alpha-actinin-2-associated LIM protein|enigma homolog protein-coding 1353458 PDLIM4 PDZ and LIM domain 4 1580863 10826496,19307596,19212833,19131452,19011242,17332327,16489065,16192286,16189514,15663004,15489334,15231747,14729062,12908099,12477932,11884147,9573374,9373149,8125298,19453261,17207965 8572 NM_001131027,AC034220,CH471062,U82997,AF153882,AF154335,AK225407,AK313508,AW590987,BC003096,BC016765,BF689609,BF690514,BT007019,NM_003687,CR590007,CR590174,CR595158,CR615682,CR616355,DN997097,X93510,NG_015836 NP_003678,NP_001124499,EAW62349,EAW62350,EAW62351,AAC52072,AAD38070,AAD34646,BAG36288,AAH03096,AAH16765,AAP35665,CAA63767,P50479,ADQ32341 Hs.424312 RIL LIM domain protein|LIM protein RIL|OTTHUMP00000198263|PDZ and LIM domain protein 4|enigma homolog|reversion-induced LIM protein protein-coding 1344700 PDLIM5 PDZ and LIM domain 5 The protein encoded by this gene is a LIM domain protein. LIM domains are cysteine-rich double zinc fingers composed of 50 to 60 amino acids that are involved in protein-protein interactions. LIM domain-containing proteins are scaffolds for the formation of multiprotein complexes. The proteins are involved in cytoskeleton organization, cell lineage specification, organ development, and oncogenesis. The encoded protein is also a member of the Enigma class of proteins, a family of proteins that possess a 100-amino acid PDZ domain in the N terminus and 1 to 3 LIM domains in the C terminus. Multiple transcript variants encoding different isoforms have been found for this gene, although not all of them have been fully characterized. [provided by RefSeq] 20564319,11256614,19328558,18496210,18496208,18456508,18197271,18021463,17287082,17081983,16595163,16549780,16381901,16344560,16213469,16044170,15555569,15489336,15489334,15362566,15346770,15342556,15334068,14743183,12665800,12477932,11230166,11076863,10833443,10429367,8940095,8889548,7698749,16189514,16713569,19448850,19767753,20878950 10611 AL049969,AL832157,AL832686,AL833151,AL833438,AL833439,AY345240,AY598328,BC008741,BC017902,BC026029,BF979604,BM670741,BP260089,BQ049008,BT007328,CR608778,CR610626,D31139,DA895978,NM_001011513,NR_024179,NM_001011515,NM_001011516,AC093778,AC108067,AC109925,CH471057,AA253314,AA888262,AB209531,AF061258,AI201986,AK027217,AK129886,AK291624,AK291898,AK296980,AK304125,NM_006457 AAR09142,AAT06739,AAH08741,AAH17902,AAP35992,Q4W5K9,Q56VN4,Q59FC9,Q96HC4,Q9P1D1,CAL38184,CAL38272,CAL38362,CAL38497,CAL38688,ABM81612,ABM84794,NP_006448,NP_001011513,NP_001011515,NP_001011516,AAY40898,EAX06053,EAX06054,EAX06055,EAX06056,EAX06057,EAX06058,EAX06059,BAD92768,AAC15767,BAF84313,BAF84587,BAH12467,BAH14111 Hs.480311 ENH|ENH1|L9|LIM OTTHUMP00000219307|OTTHUMP00000219309|OTTHUMP00000219310|PDZ and LIM domain protein 5|enigma homolog|enigma-like LIM domain protein|enigma-like PDZ and LIM domains protein protein-coding 1606830 PDLIM7 PDZ and LIM domain 7 (enigma) The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 12176011,11874232,10704826,10359609,9528800,8940095,15946664,16382137,18029348,19269113,16713569,18989571,18618069,18412141,18395833,18215669,17805464,17126496,16803868,16611643,16189514,15635413,15489334,14702039,7929196,12477932,20348040,20636447,21060154 9260 NM_203352,NM_005451,NM_213636,AC145098,CH471195,L35240,AF265209,AF345904,AF345905,AF345906,AK096826,BC001093,BC007648,BC014521,BC067806,BC084575,BG714861,BG772677,CB993539 NP_976227,NP_005442,NP_998801,EAW84985,EAW84986,EAW84987,EAW84988,AAC37565,AAF76152,AAK30567,AAK30568,AAK30569,AAH01093,AAH14521,AAH84575,Q9NR12,ABM83061,ABM86255 Hs.533040 LMP1 1110003B01Rik|LIM domain protein|LIM mineralization protein|LMP|OTTHUMP00000180646|OTTHUMP00000223829|OTTHUMP00000223831|OTTHUMP00000223833|PDZ and LIM domain protein 7|protein enigma protein-coding 731545 PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq] 1642637,2307428 19184109,16344560,16188909,15897476,15855260,15489334,14702039,14527413,12477932,11577086,10931946,9651365,8889548,8396421,7782287,7757816,7566098,1327585,172850,12676647,20208177,20877624 1642637,2307428 54704 NG_012233,NM_001161778,NM_001161779,NM_001161780,NM_001161781,AC084346,CH471060,AF155661,AK022057,AK057079,AK126862,AK302651,NM_018444,AL134195,BC047619,BC064978,BC098343,BM973633,BQ422289,BX099681,DA240240,DA507397,DA769567,DB084539,DC369809 NP_060914,NP_001155250,NP_001155251,NP_001155252,NP_001155253,EAW91704,EAW91705,EAW91706,AAF67480,BAG51859,BAG54383,BAG63890,AAH47619,AAH64978,AAH98343,Q6P1N1,Q9P0J1 Hs.22265 FLJ32517|FLJ56179|MGC119646|PDH|PDP|PDPC|PPM2C PDP 1|PDPC 1|[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial|protein phosphatase 2C, magnesium-dependent, catalytic subunit|pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase|pyruvate dehydrogenase phosphatase catalytic subunit 1 protein-coding 1603017 PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 2307428 15489334,12477932,11577086,10718198,9651365,17207965,20525856,20877624,12676647,20208177,8889548 2307428 57546 AC044802,CH471092,AB037769,AK292539,BC028030,NM_020786,BU735208,XR_109312 NP_065837,EAW83048,BAA92586,BAF85228,AAH28030,Q9P2J9,ADQ32797 Hs.654693,Hs.632214 KIAA1348|PPM2C2 PDP 2|PDPC 2|[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial|protein phosphatase 2C, magnesium-dependent, catalytic subunit 2|pyruvate dehydrogenase phosphatase catalytic subunit 2|pyruvate dehydrogenase phosphatase isoenzyme 2|pyruvate dehydrogenase phosphatase, catalytic subunit 2 protein-coding 732664 PDPK1 3-phosphoinositide dependent protein kinase-1 729514,2290458,1581775,1580863,1581774 20562859,9368760,18616680,10792047,10567711,14749367,9373175,9637919,10698680,9381178,9812896,10485710,11715018,12167717,12244303,12524439,15122200,15125833,15541657,15718470,17468049,18660489,18024423,17848913,17826953,17371830,17314099,17255356,17136479,17081983,16807684,16551362,16288304,16207722,15802620,15802604,15743829,15741170,15489334,15302935,15210700,15144186,15059930,14702039,14604990,14585963,14500673,12912918,12640464,12485998,12477932,12387817,12177059,12169624,12162751,12149249,12147684,12048203,11889038,11877406,11825911,11781095,11779851,11733037,11481331,11445557,11438723,11381116,11376011,11313365,11278835,11222751,11157489,11062054,10995762,10945988,10896934,10856237,10764742,10753910,10698939,10601311,10548550,10480933,10455013,10364160,10357815,10226025,10191262,9895304,9748166,9512493,9445477,9445476,9430688,9427642,9374542,9373149,9271440,9094314,8125298,16169070,12223477,20978239,12138205,16251192,17047224,18439422,19167335,19276999,19405949,19591923,20044479,20133737,20186503,9768361 729514,2290458,1581775,1581774 5170 NM_031268,AC005591,AC093525,AC141586,AJ406809,CH471112,AB209835,AF017995,AF111845,AK095507,AK131060,AK222581,AK293900,AL157446,BC000789,NM_002613,BC006339,BC012103,BC012540,BC033494,BC040324,BI830733,CR536517,Y15056 NP_002604,NP_112558,AAC33797,CAC10873,EAW85495,BAD93072,AAC51825,AAF16685,BAD96301,BAG57287,AAH06339,AAH12103,AAH33494,CAG38755,CAA75341,O15530,Q53HJ9,Q59EH6,Q9BRD5,Q9UPJ7,Q9UPJ8,ABM83223,ABM86422,ACE87795,ACT64575 Hs.459691 MGC20087|MGC35290|PDK1|PRO0461 3-phosphoinositide-dependent protein kinase 1|OTTHUMP00000174525|PkB kinase like gene 1|PkB-like 1|hPDK1|protein kinase protein-coding 1606573 PDPN podoplanin This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 2292234,2292235,2292236,2292240,1302251,2292239,2292242,2292375,2292237,2292231,2292241,2292243,2292244,632934 20042851,20628624,12477932,9651190,8889548,8012384,7829101,16169070,19691459,19925582,20403045,20716773,20559122,20665731,21034514,14522983,18202409,18165897,18162779,17951199,17951198,17616532,17543889,17377811,17348451,17343736,17284957,17222411,17179989,16718353,16710414,16616332,16596424,16574316,16528371,16408168,16303743,15743802,15515019,15489334,15231832,10393083,19556810,19554509,19356249,19268462,18820665,18772332,18707544,18658274,18657337,18650031,18564921,18546264,18541721,18539139,18215137,18212541,20923309,19146981,19363443,19483399,19483629,19550098,19630798,19773378,20146302,20196862,20200437,20376776,20379614,20393745,20482880,20414092,20066519,20736762,20191305,20616339,21036919,21226415 2292234,2292235,2292236,2292240,1302251,2292239,2292242,2292375,2292237,2292231,2292241,2292243,2292244,632934 10630 NM_006474,NM_198389,NM_001006624,NM_001006625,AL354712,AL357492,AL359771,CH471167,Z56464,Z60872,AB127958,AF030427,AF030428,AF390106,AJ225022,AK075327,AK075345,AK307705,AK307706,AK312607,AW022996,AY194238,BC014668,BC022812,BE887331,BF340649,BQ212176,BQ214601,CA312590,CD245679,CR602323,CR605194,CR615370 NP_006465,NP_938203,NP_001006625,NP_001006626,CAI17983,CAI17984,EAW51691,EAW51692,EAW51693,EAW51694,BAD04046,AAD01899,AAD01900,AAM73655,CAA12352,BAC11550,BAC11557,BAG35495,AAO22143,AAH14668,AAH22812,Q86YL7 Hs.468675 AGGRUS|GP36|GP40|Gp38|HT1A-1|OTS8|PA2.26|T1A|T1A-2 OTTHUMP00000221492|OTTHUMP00000221493|OTTHUMP00000221495|OTTHUMP00000221496|OTTHUMP00000221499|PA2.26 antigen|T1-alpha|glycoprotein 36|glycoprotein, 36-KD|hT1alpha-1|hT1alpha-2|lung type I cell membrane associated glycoprotein|lung type-I cell membrane-associated glycoprotein (T1A-2)|podoplanin protein-coding 1602881 PDPR pyruvate dehydrogenase phosphatase regulatory subunit 12676647,14702039,12477932,12056414,9395502,20808825,20877624 55066 NM_017990,AC009022,AC009060,AB082521,AK000941,AK024608,AK093391,AK292502,AK302987,AK316384,AL117440,BC006246,BC032327,BC090941,BC150251,BX537614,BX538042,BX538153,CR592755,CR627404 NP_060460,BAC02699,BAA91436,BAG52703,BAF85191,BAG64127,BAH14755,AAI50252,CAH10819,CAH10555,CAH10494,Q6AWD0,Q8NCN5,Q9NWE6 DKFZp686A088|DKFZp686D16130|FLJ10079|PDP3 pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial protein-coding 1349394 PDR pigment disorder, reticulate 5171 1349373 PDRG1 p53 and DNA-damage regulated 1 15489334,14743216,14562055,12477932,11780052,8889548,17643375,19450687 81572 NM_030815,AL031658,CH471077,AK312021,AY286301,BC001856,BC009334,BM679702,CR608891,CR624404 NP_110442,CAB88101,EAW76399,EAW76400,BAG34958,AAP45329,AAH01856,AAH09334,Q9NUG6 Hs.435755 C20orf126|PDRG p53 and DNA damage regulated 1|p53 and DNA damage-regulated protein 1 protein-coding 1604045 PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 16682347,20359100,15855230,17846787,17353931,15837422,15019998,14702039,12477932,11590136,11076961,9734811,19906707,17113138,19907496 23244 NM_001100400,AC098591,AC105287,AC113150,CH471069,AB014548,AF294791,AK001828,AK021757,AK023592,AK098331,AK124569,AY550968,BC009650,BC041361,BC114218,NM_001100399,NG_021172,BC126225,BC144088,CA412233,CR615359,CR749425 NP_001093869,NP_001093870,EAW92952,EAW92953,EAW92954,EAW92955,BAA31623,AAM82347,BAG51044,BAC05286,AAT52214,AAH09650,AAH41361,AAI14219,AAI26226,CAH18263,Q29RF7,Q96DB6,ACE87631,ACE87646,ACE86943,ACE86955,ADR82739 Hs.331431 DKFZp686B19246|FLJ41012|KIAA0648|MGC131948|MGC161503|PIG54|SCC-112 OTTHUMP00000218541|cell proliferation-inducing gene 54 protein|scc-112 protein|sister chromatid cohesion protein 112|sister chromatid cohesion protein PDS5 homolog A protein-coding 1321969 PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 10215036,15855230,10963680,16682347,19412548,18499069,16710414,15837422,15489334,15345747,15302935,12477932,12072405,10231032,8812419,11111111,19454010,21116278,16344560,17113138,19737411,20383194 23047 NM_015032,AL138820,CH471075,Z75889,AB023196,AK128502,AK299340,AL137201,BC039256,BC070274,DB456240,U50533,U95825,AK026889,BC026240,BP398054,DA856411,NG_021308,Z84467,Z84572 NP_055847,CAH73160,EAX08520,CAI10806,BAA76823,BAH13007,CAB69911,AAH39256,AAH70274,AAD22134,Q9NTI5,AAI72246,BAB15584,CAP58848 Hs.726057 APRIN|AS3|CG008|FLJ23236|KIAA0979|RP1-267P19.1 OTTHUMP00000197491|androgen induced inhibitor of proliferation|androgen-induced proliferation inhibitor|androgen-induced prostate proliferative shutoff-associated protein AS3|androgen-induced shutoff 3|sister chromatid cohesion protein PDS5 homolog B protein-coding 1354063 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq] 15164054,12477932,10972372,9373149,8125298,8119922,7752843,20877624,16262699,18636124,17332895,15489334,8226825,20010493,20010505,20051244,20201926,20379614 23590 NM_014317,NG_008972,AL390961,CH471072,AB209763,AB210838,AF118395,AK024802,AK223414,AK296288,BC049211,BC063635,CR591586,CR609440 NP_055132,CAI17280,EAW86084,EAW86085,BAD93000,BAE48216,AAD28559,BAD97134,BAG58993,AAH49211,AAH63635,Q59EP8,Q5T2R2 Hs.558468 COQ1|DPS|MGC70953|RP13-16H11.3|SPS|TPRT|TPT|hDPS1 coenzyme Q1 homolog|decaprenyl pyrophosphate synthase subunit 1|decaprenyl-diphosphate synthase subunit 1|polyprenyl pyrophosphate synthetase|subunit 1 of decaprenyl diphosphate synthase|trans-prenyltransferase|trans-prenyltransferase (TPT) protein-coding 1353926 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 The isoprenoid chain of ubiquinone (coenzyme Q) varies in length between species and is determined by trans-polyprenyl diphosphate synthase. Humans possess a heterotetrameric decaprenyl diphosphate synthase composed of DPS1 (PDSS1; MIM 607429) and DLP1 (PDSS2) that produces Q10 ubiquinone (Saiki et al., 2005 [PubMed 16262699]).[supplied by OMIM] 19913121,20628086,16262699,19209031,18978678,17855635,15489334,14574404,12477932,9373149,8125298,20877624,20051244,20507940 57107 AL121957,AL355586,AL590489,AL591516,CH471051,AB210839,AF086233,AF254956,AJ420575,AK225629,AK296717,AK301480,AK315804,AL832290,NM_020381,BC039906,DC341808,NG_013033,BC029491 NP_065114,CAI22355,CAI22356,CAI16109,CAH73572,CAH73573,CAI40034,CAI40036,EAW48400,BAE48217,AAF97788,BAG59307,BAG62995,BAG38145,AAH29491,AAH39906,Q86YH6 Hs.726306 C6orf210|DLP1|bA59I9.3|hDLP1 decaprenyl pyrophosphate synthase subunit 2|decaprenyl pyrophosphate synthetase subunit 2|decaprenyl-diphosphate synthase subunit 2|subunit 2 of decaprenyl diphosphate synthase protein-coding 736367 PDX1 pancreatic and duodenal homeobox 1 The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq] 2311214,2311215,2311219,2311232,2311204,2311213,2311218,2311205,2308899,2311233,2311308,2311305,2311307,2311309,2308812,2311206,2311207,2311217,2311226,2311227,1357906,2311170,1600277,2311220,2311221,2311222,2311225,2311224,2311168,2311228,2311229,2311173,2311231,2311306,2311311,1625044,2311230,2311223,2311310,1580863 8954967,17941991,8988180,19277121,19228875,19208834,19077462,15300214,15277425,15170499,15121856,15107297,15047618,15028719,14764823,14631368,12972592,12970316,12947327,12783165,12477932,12124776,12052878,11834421,11772903,11279116,11270685,11076863,11022198,10751390,10636926,10545531,10545530,9252422,9115263,9111329,8986763,8923459,8635654,7590740,7505393,20621032,20381624,15896300,19056482,18951430,18855980,18811724,18754323,18754095,18718916,18671802,18665085,18593849,18522939,18508668,18506375,18477649,18361919,18060872,17957487,17761145,17705277,17592437,17583748,17327436,17226789,17143557,17131142,17126328,17003361,16936193,16894468,16874866,16873704,16741735,16675598,16407209,16405074,16390394,16229747,16141209,16092045,15993959,15839736,15754742,15665000,15664999,14968112,19056911,19515026,19578796,19755420,19833727,19843526,19910415,20009086,20036830,20353756,20416077,20622005,20811152,19913121,20628086,20682687 2311214,2311215,2311219,2311232,2311204,2311213,2311218,2311205,2308899,2311233,2311308,2311305,2311307,2311309,2308812,2311206,2311207,2311217,2311226,2311227,1357906,2311170,1600277,2311220,2311221,2311222,2311225,2311224,2311168,2311228,2311229,2311173,2311231,2311306,2311311,1625044,2311230,2311223,2311310 3651 NM_000209,NG_008183,AF035260,AL353195,CH471075,S82178,AF049893,CA771381,CA848737,U30329,U35632,X99894 NP_000200,AAB88463,CAH72544,EAX08420,AAB47101,AAC05157,AAA74012,AAA88820,CAA68169,P52945,AAI11593 Hs.32938 GSF|IDX-1|IPF1|IUF1|MODY4|PDX-1|STF-1 IPF-1|IUF-1|glucose-sensitive factor|insulin promoter factor 1, homeodomain transcription factor|insulin upstream factor 1|islet/duodenum homeobox-1|pancreas/duodenum homeobox protein 1|pancreatic and duodenal homeobox gene 1|pancreatic-duodenal homeobox factor 1|somatostatin transcription factor 1|somatostatin-transactivating factor 1 2289644,2289645,2314787 BW509_H,BW511_H,GLUCO113_H protein-coding 1604634 PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 17353931,16344560,14702039,12477932,11591653,9039502,20189936 23042 AC138932,CH471301,AK025504,AK090552,AK295168,AK299111,AK299799,AY203955,BC025366,BC033748,BC036520,BC042104,BC045554,BC053946,BC060871,BX647809,BX648066,D87438,DB019664,DQ111782,H18469,NM_015027 EAW54748,BAG58179,BAG61167,BAG61675,AAP34478,AAH25366,AAH33748,AAH36520,AAH42104,AAH45554,AAH60871,BAA19780,AAZ14099,Q6P996,Q6XYB5,Q86XE2,NP_055842 Hs.370781 KIAA0251|LP8165 pyridoxal-dependent decarboxylase domain-containing protein 1 protein-coding 1605550 PDXDC2 pyridoxal-dependent decarboxylase domain containing 2 12477932 283970 NR_003610,AC009022,AC026468,AK292860,AL833251,BC063633 BAF85549,Q6P474 Hs.513695 FLJ23482|PDXDC2 pseudo 1352351 PDXK pyridoxal (pyridoxine, vitamin B6) kinase The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 724656,2303021,1580863 10930737,16780588,19351586,19086053,16704963,16344560,16021519,15489334,15154080,15082224,14702039,12477932,10830953,9373149,9354586,8510562,8125298,6088736,2009,16600635,17766369,9252787,9099727,10987144,20035503,20373357,20639122,10024608 724656,2303021 8566 NM_003681,AL122067,AP001052,AP001053,AP001752,CH471079,AI131245,AI652877,AK024977,AK027018,AK056502,AK094630,AK225206,AL109793,AL110184,AL137632,AL161960,AL355712,AL355713,AW245602,AW245860,AY303972,BC000123,BC003651,BC005825,BC008008,BC021550,BC041020,BC063541,BE671761,BI871733,BQ653540,BU192292,CB989301,CR599985,CR601990,CR602839,CR607997,CR610657,CR613269,CR618585,CR621353,CX867421,DA116202,DA398180,DA736443,DA772127,DB010203,U89606,HH961854 NP_003672,BAA95540,EAX09475,BAB15048,AAP73047,AAH00123,AAH05825,AAH08008,AAH21550,AAH41020,AAC51233,O00764,CBX51400 Hs.284491 C21orf124|C21orf97|DKFZp566A071|FLJ31940|FLJ37311|MGC15873|MGC31754|MGC52346|PKH|PNK|PRED79 pyridoxal kinase|pyridoxamine kinase|pyridoxine kinase|vitamin B6 kinase protein-coding 1351799 PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM] 737633 18029348,19000834,18510874,15580268,15489334,14702039,14522954,12477932,10591208,8132548,16336786 737633 57026 NM_020315,CH471095,Z83844,AK057265,AY125047,BC000320,BC009756,BC012832,BC018844,BC064922,CR600890,CR601934,CR614977,CR615223,CR615489,CR617653,CR617992,CR618685,CR620574 NP_064711,EAW60176,EAW60177,CAB63038,CAQ09782,AAM94358,AAH00320,AAH09756,AAH64922,Q6ZT62,Q96GD0 Hs.632762 CIN|FLJ32703|PLP|dJ37E16.5 PLP phosphatase|chronophin|pyridoxal phosphate phosphatase protein-coding 1343954 PDYN prodynorphin The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. [provided by RefSeq] 1580863 15306549,21035104,20734064,9047294,19486061,19298317,19219857,19183129,19094085,19086053,19066720,18923396,18355961,18334734,18184800,17559549,16924269,16914231,16529859,16314761,16274263,16184603,15894804,15489334,15301734,14552886,12644935,12590613,12477932,12207142,11992566,11835385,11803449,11780052,10871647,10646497,7759618,6316163,6281660,2893547,1978246,16344560,16892066,18240029,19437412,19468819,19474285,19820697,19874574,19948975,20376782,7905839,8208289 5173 DA297229,NG_028027,NM_024411,AL034562,AY902648,AY902649,AY902650,AY902651,AY902664,AY902665,AY902666,AY902667,CH471133,K02268,X00176,X02536,AK289618,AK316076,BC026334,DA157767,DA167762,DA178888,DA302375,DA305883,NM_001190892,NM_001190898,NM_001190899,NM_001190900 NP_077722,CAB38875,AAY53973,AAY53974,AAY53975,AAY53976,AAY53989,AAY53990,AAY53991,AAY53992,EAX10604,AAA58456,CAA24999,BAF82307,BAH14447,AAH26334,P01213,Q2YEL0,Q2YEM6,NP_001177821,NP_001177827,NP_001177828,NP_001177829 Hs.22584 ADCA|MGC26418|PENKB|SCA23 beta-neoendorphin|beta-neoendorphin-dynorphin|dynorphin|leu-enkephalin|leumorphin|preprodynorphin|preproenkephalin B|proenkephalin-B|rimorphin protein-coding 1350594 PDZD11 PDZ domain containing 11 16381901,16344560,16051599,15772651,15489336,15489334,12975309,12763866,12477932,11230166,11076863,11042152 51248 NM_016484,AC002416,AF003528,AL139111,AL158141,AL357752,AL450449,CH471132,AF151061,AK024746,AK311539,AY358829,BC012996,BC089433,BG708698,BX537725,CR457149,CR593661,DA115661 NP_057568,CAI41488,EAX05345,EAX05346,AAF36147,AAQ89188,AAH12996,AAH89433,CAD97820,CAG33430,Q5EBL8,CAL38086 Hs.11042 AIPP1|PDZK11|PISP ATPase-interacting PDZ protein|OTTHUMP00000023470|PDZ domain-containing protein 11 protein-coding 735643 PDZD2 PDZ domain containing 2 Proteins containing PDZ domains have been shown frequently to bind the C-termini of transmembrane receptors or ion channels. They have also been shown to bind to other PDZ domain proteins and could possibly be involved in intracellular signalling. The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq] 1580863 11289102,18639375,18037333,16413998,14702039,12477932,12671685,12370826,10896674,9205841,8889548,12421765,1731767,21061259,19046020,20237496,20379614 23037 AC010449,AC010469,AC022447,AC025178,AC025458,CH471118,AB002298,AF338650,AK021922,AK091490,AK128686,AK294741,AK304804,BC032023,BC057283,BX648242,CA503068,NM_178140 NP_835260,EAX10775,EAX10778,BAA20760,AAK07661,BAC87571,BAG57884,BAG65554,O15018,Q6ZQW2,AAI72231 Hs.481819 AIPC|KIAA0300|PAPIN|PDZK3|PIN1 PDZ domain containing 3|PDZ domain-containing protein 2|PDZ domain-containing protein 3|activated in prostate cancer protein|papin|plakophilin-related armadillo repeat protein-interacting PDZ protein-like protein-coding 1348843 PDZD3 PDZ domain containing 3 Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM] 11950846,19088451,15489334,14702039,12615054,12477932,15523054,1553237,15553237,16344560 79849 NM_024791,AP002956,CH471065,AB094096,AK026409,AK091966,AK298333,AK315403,AY047359,BC029042,BX648391,DA381610,EF445006,NM_001168468,NR_033122 NP_079067,EAW67470,EAW67471,EAW67472,EAW67473,EAW67474,BAC76050,BAB15474,BAC03780,BAG60582,AAL10686,AAH29042,Q86UT5,ACA06039,NP_001161940 Hs.374726 FLJ22756|IKEPP|NHERF4|PDZK2 NHERF-4|Na(+)/H(+) exchange regulatory cofactor NHE-RF4|PDZ domain containing 2|PDZ domain-containing protein 2|PDZ domain-containing protein 3|intestinal and kidney enriched PDZ protein|intestinal and kidney-enriched PDZ protein|na/Pi cotransporter C-terminal-associated protein 2|naPi-Cap2|natrium-phosphate cotransporter IIa C-terminal-associated protein 2|sodium-hydrogen exchanger regulatory factor 4 protein-coding 1343770 PDZD4 PDZ domain containing 4 14702039,12477932,10819331,8661155,15077175,15489334,15138636,16713569 57595 NM_032512,CH471172,U52111,AB040877,AB103478,AF085862,AK091444,AK123229,AK123822,AK127016,AK309212,BC002606,BC008599,BC020347,BC080584,BC117277,BC143459,BC143542,BC143545,CR606934 NP_115901,EAW72795,EAW72805,BAA95968,BAD16631,BAC03666,BAG53881,BAG53965,BAG54423,AAH02606,AAH80584,AAI17278,AAI43460,AAI43546,Q17RL8,Q76G19,ADR83394 Hs.92732 FLJ34125|KIAA1444|LU1|PDZK4|PDZRN4L PDZ domain-containing RING finger protein 4-like protein|PDZ domain-containing protein 4 protein-coding 1320465 PDZD7 PDZ domain containing 7 737633,1580863 19028668,15489334,15164054,14702039,12477932,9373149,8125298,16344560,20440071 737633 79955 NM_024895,AL133215,CH471066,AK024422,AK026862,AK225136,BC029054,NG_028030,DA197280,NM_001195263,FJ617449 NP_079171,CAI10934,EAW49788,BAB15712,BAB15577,AAH29054,Q9H5P4,Q9H7Q6,NP_001182192,ACU45386 Hs.438245 PDZK7 PDZ domain-containing protein 7 protein-coding 1318503 PDZD8 PDZ domain containing 8 737633,1580863 16385451,17081983,15489334,15164054,14702039,12601173,12477932,20573829 737633 118987 NM_173791,AL359836,AL391988,CH471066,AK058141,AK091746,AL122051,AY211924,AY211929,BC012186,BC028375,BC033019 NP_776152,CAH73253,CAH70347,EAW49427,CAB59184,AAO65177,AAO65182,AAH28375,Q8NEN9 Hs.501149 FLJ25412|FLJ34427|PDZK8|bA129M16.2 PDZ domain-containing protein 8|sarcoma antigen NY-SAR-104|sarcoma antigen NY-SAR-84|sarcoma antigen NY-SAR-84/NY-SAR-104 protein-coding 732823 PDZK1 PDZ domain containing 1 12477932,12471024,12424224,12119305,11099500,11076863,11051556,10829064,10496535,9924606,20237154,19913121,20628086,15553237,18029348,19173579,19447883,19503597,19535329,19861489,19890391,20162742,20162743,16236806,16738539,15304510,9461128,19321583,19091402,18955051,18403724,17990980,17602283,17507652,16710414,16381901,16192282,16189514,16012170,15994332,15766278,15523054,15494376,15489336,15489334,15215163,14702039,14551195,14531806,12837682,12754212,12615054,20855565,20884846,15767854,19421056,20632170,21059598 5174 NM_002614,AL390725,CH471244,AF012281,AK298269,AK313100,BC006496,BC006518,BX477678,NM_001201325,NM_001201326 NP_002605,CAI13715,CAI13716,EAW71441,EAW71442,EAW71443,AAC12264,BAG60531,BAG35924,AAH06496,AAH06518,Q5T2W1,CAL38402,NP_001188254,NP_001188255 Hs.444751 CAP70|CLAMP|NHERF-3|NHERF3|PDZD1 C-terminal linking and modulating protein|CFTR-associated protein of 70 kDa|NHERF-3|Na(+)/H(+) exchange regulatory cofactor NHE-RF3|Na(+)/H(+) exchanger regulatory factor 3|OTTHUMP00000015572|PDZ domain-containing protein 1|PDZ-containing kidney protein 1|na/Pi cotransporter C-terminal-associated protein 1|naPi-Cap1|sodium-hydrogen exchanger regulatory factor 3 protein-coding 737282 PDZK1IP1 PDZK1 interacting protein 1 18303113,17675338,17548903,17426052,17230460,16710414,15489334,14531806,12837682,12754212,12477932,11997341,9815914,9461128,8701988,16169070,17207965,19913121,20628086,19601982 10158 NM_005764,AL135960,CH471059,BC012303,BI763294,BM924665,CR450304 NP_005755,CAB72104,EAX06878,AAH12303,CAG29300,Q13113,ADQ32646 Hs.431099 DD96|MAP17|RP1-18D14.5|SPAP 17 kDa membrane-associated protein|OTTHUMP00000009573|PDZK1-interacting protein 1|epithelial protein up-regulated in carcinoma, membrane associated protein 17|membrane-associated protein 17 protein-coding 1626137 PDZK1P1 PDZ domain containing 1 pseudogene 1 14702039 728939 NR_003377,AL356004,AK126719 A8MUH7 Hs.696575 pseudo 1625088 PDZK1P2 PDZ domain containing 1 pseudogene 2 100034743 NG_005958,BX537254 A8MUH7 pseudo 1348280 PDZK5C PDZ domain containing 5C 414180 1313169 PDZRN3 PDZ domain containing ring finger 3 737633,1580863 15489334,15458844,15305371,15188402,15010864,14702039,12477932,10470851,10431247,17576800,20306291,20379614 737633 23024 NM_015009,AC024102,AC103560,AC117489,AC119731,CH471055,AB029018,AK074573,AK307818,AL049958,AL157498,BC014432,BC150623,BC152417,AK294761,AK299275,AK299560,AK316244,AK316275 NP_055824,EAW65531,EAW65532,BAA83047,BAC11068,CAB75679,AAH14432,AAI50624,AAI52418,Q9UPQ7,BAH11874,BAH12989,BAH13065,BAH14615,BAH14646 Hs.727526 LNX3|SEMACAP3 E3 ubiquitin-protein ligase PDZRN3|OTTHUMP00000213615|OTTHUMP00000213616|OTTHUMP00000213617|OTTHUMP00000213618|PDZ domain-containing RING finger protein 3|ligand of Numb protein X 3|likely ortholog of mouse semaF cytoplasmic domain associated protein 3|semaphorin cytoplasmic domain-associated protein 3 protein-coding 1318876 PDZRN4 PDZ domain containing ring finger 4 19010793,18464913,16541075,15489334,15010864,14702039,12477932,11230166,20944657 29951 NM_013377,AC090531,CH471111,AK091096,AK094690,AK131554,AK294431,AK294535,AL133067,BC040922,BC093744,BC093746,BX640695,AC021651,AW297403,NM_001164595,AC073607 NP_037509,EAW57827,EAW57828,EAW57829,BAG52914,BAD18688,BAG57676,BAG57742,CAB61390,AAH40922,AAH93744,AAH93746,CAE45818,Q6ZMN7,NP_001158067 Hs.380044 LNX4|SAMCAP3L IMAGE5767589|PDZ domain-containing RING finger protein 4|SEMACAP3-like protein|ligand of Numb protein X 4 protein-coding 1314452 PEA15 phosphoprotein enriched in astrocytes 15 PEA15 is a death effector domain (DED)-containing protein predominantly expressed in the central nervous system, particularly in astrocytes.[supplied by OMIM] 1580863 20032303,20825483,20452983,10442631,9670003,8662970,19103758,19010903,18765665,18284607,18077417,17700518,17658892,17227770,17081983,17021921,16987961,16822839,16344560,16170361,16061647,16044159,15916534,15489334,15331596,15328349,14702039,12808093,12796492,12477932,11976344,11790785,11702783,10926929,10607908,10493725,9721757,9205133,8449955,16169070,20396999,20648624,18541525,19531639,19771552,20537721,20406097 8682 CR597460,CR607286,CR609118,CR616241,CR623664,DA532423,L37385,X86809,Y13736,NM_003768,AF153274,AL121987,AL139011,CH471121,AI948916,AK095879,AK311762,BC002426,BC010469,BC022554,BT007252,CR541733,CR591446,CR591754,CR592001,CR593121 AAA98120,CAA60499,CAA74076,Q14801,Q15121,Q6FHL9,Q96FS5,ABM82747,ABM82750,ABM85934,NP_003759,AAD56775,CAI15277,CAI15278,CAI15279,EAW52733,EAW52734,EAW52735,BAG53155,BAG34705,AAH02426,AAH10469,AAH22554,AAP35916,CAG46533 Hs.517216 HMAT1|HUMMAT1H|MAT1|MAT1H|PEA-15|PED 15 kDa phosphoprotein enriched in astrocytes|OTTHUMP00000029887|Phosphoprotein enriched in astrocytes, 15kD|astrocytic phosphoprotein PEA-15|homolog of mouse MAT-1 oncogene|phosphoprotein enriched in diabetes 2314798,2314801 GLUCO117_H,GLUCO120_H protein-coding 1642918 PEAR1 platelet endothelial aggregation receptor 1 PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM] 20526338,19429868,18511696,15851471 375033 NM_001080471,AL158169,AL356104,AK074121,AK098809,CR599082,CR609390 CAO03619,NP_001073940,CAH70011,CAH72941,BAB84947,BAC05419,Q5VY43,Q8N780,AAI72296 Hs.142003,Hs.715070 FLJ00193|JEDI|MEGF12 OTTHUMP00000038718|hPEAR1|multiple EGF-like domains protein 12|multiple EGF-like-domains 12|multiple epidermal growth factor-like domains protein 12|platelet endothelial aggregation receptor 1 protein-coding 736840 PEBP1 phosphatidylethanolamine binding protein 1 2302865,2293882,2302863,2302869,2302667,2302735,2302862,2302868,2302867,2302870,2302864,1580863,2302866 19551145,19564817,19705153,20028985,20043910,15782137,15489334,15327891,15001550,14766752,14654844,12551925,12477932,12421765,11853019,11585904,11034991,10757792,10622376,10490027,9782050,9373149,8738137,8144042,8125298,7807553,7641877,1602151,1286669,16169070,7637590,17353931,17474147,19405953,19367706,19357705,19342899,19228192,19165527,19153603,19103740,19101508,19034380,18567796,18483365,18375747,18329792,18294816,18172264,17952120,17911631,17179102,17145707,17097642,17081983,17030190,17018026,16916643,16865242,16513087,16243812,19096942,19955695,19291429,20533335,20855151,20869966,20463977,20564197 2302865,2293882,2302863,2302869,2302667,2302735,2302862,2302868,2302867,2302870,2302864,2302866 5037 NM_002567,AC026366,CH471054,AK226006,AK299414,AK308056,AK311927,BC008714,BC017396,BC018799,BC031102,BF978793,CR590878,CR594432,CR595335,CR595492,CR596355,CR598446,CR606181,CR608267,CR612913,CR615482,CR618909,CR621357,CR626465,D16111,S76773,X75252,X85033,HM131449,XR_109136,XR_109137,XR_111344,XR_114620 NP_002558,EAW98122,EAW98123,BAG61396,BAG34868,AAH08714,AAH17396,AAH31102,BAA03684,AAD14234,CAA53031,CAA59404,P30086,Q9H376,ADI99998 Hs.433863,Hs.718605 HCNP|PBP|PEBP|RKIP HCNPpp|PEBP-1|Raf kinase inhibitory protein|hippocampal cholinergic neurostimulating peptide|neuropolypeptide h3|phosphatidylethanolamine-binding protein 1|prostatic binding protein|prostatic-binding protein|raf kinase inhibitor protein protein-coding 1606949 PEBP4 phosphatidylethanolamine-binding protein 4 The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM] 16865237,19240061,19197339,18519826,20460377,15489334,15340161,15302887,12975309,12477932,10737800,20379614 157310 NM_144962,AC105046,CH471080,AY037148,AY359109,AY730275,BC020779,BF853000,AC037441,AC055854,GM720450 EAW63647,AAK67629,AAQ89467,AAW56965,AAH20779,Q96S96,NP_659399,CAT16638 Hs.491242 CORK-1|CORK1|GWTM1933|MGC22776|PEBP-4|PRO4408|hPEBP4 cousin-of-RKIP 1 protein|phosphatidylethanolamine-binding protein 4|protein cousin-of-RKIP 1 protein-coding 1349615 PECAM1 platelet/endothelial cell adhesion molecule 1581009,1581010,1580863,2311660,2311662,2311655,2311657,2311656,1598382 20369584,20400708,17922402,17785788,17704297,17703412,17580308,17510564,17509538,17483704,17460171,17429142,17365855,17348207,17212705,17194459,17130180,17116209,17113632,17106245,17068334,16984283,16681757,16551678,16518857,16507710,16426244,16357318,16308102,16219692,16002039,15985432,15908974,15756041,15753851,15731036,15668248,15644126,15592455,15589815,15550034,15550032,15489334,15488875,15265022,15249221,15249199,15231748,15196923,15065759,15048167,14991534,14754395,14566092,14519385,12915579,12893767,12893640,12850829,12775720,12732396,12689916,12681475,12658549,12653580,12651608,12649141,12646189,12616538,12610627,12581968,12552497,12477932,12468430,12433657,12397602,12393747,12393699,12393634,12378388,12215337,12127674,12110892,12027924,11940533,11927609,11795274,11791967,11776680,11719109,11469534,11250042,11149921,11056124,11019910,10982404,10655298,10571959,10425179,10091339,9774384,9624175,9620836,9551996,9298995,8955189,8876219,8661055,8532023,8226797,2351935,1874786,1700999,16169070,20589320,20724702,20675279,10801826,1690453,7994021,9290466,8080982,9054388,9774457,10350061,10858437,19424605,19342684,19306055,19258923,19236520,19212205,19183069,19056482,19055786,18983521,18848929,18821037,18710921,18698258,18672896,18583570,18519815,18393439,18388311,18327914,18301339,18243211,18182571,18060625,17954174,17940969,20631249,8467233,20470859,20485444,20581150,20602615,20673868,20403098,20473646,20850712,20634489,16044920,19332487,19570335,19578796,19661015,19729601,19850043,19851296,19897387,19956559,20074345,20173029,20194726,20198315,20220571,20370486,20452482,20503287,20051117,14702039,20492609,20712008 1581009,1581010,2311660,2311662,2311655,2311657,2311656,1598382 5175 NM_000442,AC016489,AC138744,CH471109,L34631,L34632,L34633,L34634,L34635,L34636,L34637,L34638,L34639,L34640,L34641,L34642,L34643,L34644,L34645,L34646,L34647,L34648,L34649,L34650,L34651,L34652,L34653,L34654,L34655,L34656,L34657,AF281287,AF281288,AF281289,AF281290,AF281291,AF281292,AF281293,AF281294,AF281295,AF281296,AF281297,AF281298,AF281299,AF281300,AF281301,AF393676,AF393677,AF393678,AK290692,AK304166,BC022512,BC051822,BG272085,CR595917,CR621687,CR625538,M28526,M37780,S66450,X96849,AC234063,AK091419,XR_108267,XR_109420 NP_000433,EAW94207,EAW94208,AAA60057,AAF91446,AAF91447,AAF91448,AAF91449,AAF91450,AAF91451,AAF91452,AAF91453,AAF91454,AAF91455,AAF91456,AAF91457,AAF91458,AAF91459,AAF91460,AAK84009,AAK84010,AAK84011,BAF83381,BAH14122,AAH22512,AAH51822,AAA36429,AAA36186,AAB28645,P16284,ABM84570 Hs.514412,Hs.376675 CD31|FLJ34100|FLJ58394|PECAM-1 CD31 antigen|CD31/EndoCAM|GPIIA'|PECA1|PECAM-1, CD31/EndoCAM|adhesion molecule|endoCAM|platelet endothelial cell adhesion molecule protein-coding 1607074 PECI peroxisomal D3,D2-enoyl-CoA isomerase PECI is an auxiliary enzyme that catalyzes an isomerization step required for the beta-oxidation of unsaturated fatty acids.[supplied by OMIM] 10419495,15489334,15217832,14702039,14574404,12477932,12097419,11916962,11337467,11256614,11230166,10508479,10354522,9373149,8125298,18029348,19615732,19834535,8889548,20877624 10455 NM_206836,AL033383,CH471087,CQ783146,AB209917,AF069301,AF153612,AF244138,AF257175,NM_006117,AK075108,AK222617,AK223003,AK297049,AL136642,AU100345,AY297537,BC002668,BC008458,BC016781,BC017474,BC025287,BC033841,BC034702,AK057175,CR456768,CR591762,CR592924,CR593971,CR603691,CR606157,CR607639,CR616873,CR625949,BQ653836,BM671011,NM_001166010,NR_028588 NP_006108,NP_996667,CAI42124,CAI42125,CAI42127,EAW55158,EAW55159,EAW55160,EAW55161,EAW55162,EAW55163,EAW55164,CAF86353,BAD93154,AAC19317,AAD34173,AAF66247,BAG52068,BAD96337,BAD96723,BAG59575,CAB66577,AAH02668,AAH16781,AAH17474,AAH33841,AAH34702,CAG33049,O75521,Q53GC8,Q53HG3,Q59E94,Q5JYK4,Q6IBN4,Q9NYD2,ACE87442,ACE87443,ACE87444,ACE86754,ACE86755,ACE86756,AAF68974,NP_001159482 Hs.15250 ACBD2|DRS1|HCA88|KIAA0536|dJ1013A10.3 D3,D2-enoyl-CoA isomerase|DBI-related protein 1|DRS-1|OTTHUMP00000015976|acyl-Coenzyme A binding domain containing 2|delta(3),delta(2)-enoyl-CoA isomerase|diazepam-binding inhibitor-related protein 1|dodecenoyl-CoA isomerase|hepatocellular carcinoma-associated antigen 88|peroxisomal 3,2-trans-enoyl-CoA isomerase|renal carcinoma antigen NY-REN-1 2289408 BW324_H protein-coding 1603637 PECR peroxisomal trans-2-enoyl-CoA reductase 11043578,10811639,19027726,16546181,15815621,15489334,12477932,11937624,11827452,11669066,19581569,20463177,18029348 55825 NM_018441,AC010686,CH471063,AF212234,AF232009,AJ250303,AK296208,AK315795,BC002529,BG742200,BG939782,BX471043,CR457145,CR591404,CR604406,CR615546,BU151224 NP_060911,AAY14657,EAW70557,EAW70558,AAK14920,AAF69798,CAB89810,BAG58934,BAG38139,AAH02529,CAG33426,Q9BY49,ACE87740,ACE87059 Hs.281680 DCRRP|HPDHASE|HSA250303|PVIARL|SDR29C1|TERP 2,4-dienoyl-CoA reductase-related protein|DCR-RP|pVI-ARL|peroxisomal trans-2-enoyl-CoA reductase|putative short chain alcohol dehydrogenase|short chain dehydrogenase/reductase family 29C, member 1 protein-coding 1352387 PEE1 preeclampsia/eclampsia 1 9150163 5177 1605152 PEF1 penta-EF-hand domain containing 1 PEF1 is a Ca(2+)-binding protein that belongs to the penta-EF-hand (PEF) protein family, which includes the calpain small subunit (CAPNS1; MIM 114170), sorcin (SRI; MIM 182520), grancalcin (GCA; MIM 607030), and ALG2 (PDCD6; MIM 601057) (Kitaura et al., 2001 [PubMed 11278427]).[supplied by OMIM] 10486255,16189514,11278427,16429158,14702039,12975309,12804766,12477932,12445460,11883899,16344560,19060904,17207965 553115 NM_012392,AC114488,CH471059,AB018357,AB026628,AK001420,AK092483,AK301226,AY359011,BC002773,BC012561,CR542139,CR592680,CR598087,CR603471,CR603990,CR604022,CR605540,CR606812,CR610369,CR612545,CR613784,CR614016,CR614671,CR616399,CR616807,CR617960,CR618458,CR620262,CR621469,CR623196,CR623731,CR623948,BG546473,BI826532,CA307778,DB024828,DC301714,NR_033686,NR_033688 NP_036524,EAX07598,EAX07599,BAA84922,BAA85163,BAA91680,BAG62799,AAQ89370,AAH02773,AAH12561,CAG46936,Q9UBV8,ADQ31636 Hs.470417 ABP32|PEF1A|PEFLIN PEF protein with a long N-terminal hydrophobic domain|peflin|penta-EF hand domain containing 1|penta-EF hand domain-containing protein 1 protein-coding 1349907 PEG10 paternally expressed 10 This gene includes two overlapping reading frames of the same transcript encoding distinct isoforms. The shorter isoform has a CCHC-type zinc finger motif containing a sequence characteristic of gag proteins of most retroviruses and some retrotransposons, and it functions in part by interacting with members of the TGF-beta receptor family. The longer isoform has the active-site DSG consensus sequence of the protease domain of pol proteins. The longer isoform is the result of -1 translational frameshifting that is also seen in some retroviruses. Expression of these two isoforms only comes from the paternal allele due to imprinting. Increased gene expression (as observed by an increase in mRNA levels) is associated with hepatocellular carcinomas. [provided by RefSeq] 18625225,18550496,17942406,17621626,17369855,16423995,16344560,16225771,16093683,16053381,15767280,15716091,15611116,15342556,14576465,12853948,12810624,12620933,12477932,11574691,11318613,11158386,10470851,9110174,8619474,20460050,20084274,20362226 23089 NM_015068,NM_001040152,NG_011340,AC069292,CH236949,CH471091,AB028974,AB049150,AB049834,AF038197,AF216076,AK025529,AK299837,AL589326,BC015448,BC050659,BP250746,CR601832,CR606070,CR620082,DA683494,R17262,R79712,DA297295,NM_001172437,NM_001172438,NM_001184961,NM_001184962 NP_055883,NP_001035242,AAS07484,EAW76781,BAA83003,BAB68387,BAB43951,BAG61702,AAH50659,Q86TG7,NP_001165908,NP_001165909,NP_001171890,NP_001171891 Hs.147492 EDR|Edr|HB-1|KIAA1051|MEF3L|Mar2|Mart2|RGAG3 MEF3 like 1|MEF3-like protein 1|OTTHUMP00000208295|OTTHUMP00000208296|embryonal carcinoma differentiation regulated|embryonal carcinoma differentiation-regulated protein|mammalian retrotransposon-derived protein 2|myelin expression factor 3-like protein 1|paternally expressed gene 10 protein|retrotransposon gag domain containing 3|retrotransposon gag domain-containing protein 3|retrotransposon-derived gag-like polyprotein|retrotransposon-derived protein PEG10|ty3/Gypsy-like protein protein-coding 1344453 PEG13 paternally expressed 13 359809 AY151252 1322359 PEG3 paternally expressed 3 1580863 18029348,19367087,19397955,19834535,20064927,18286529,16713569,16159311,16023706,15908796,15489334,12477932,11943780,11331620,11260267,11181995,10708526,10681424,9500555,9149948,11746496 5178 AC006115,AF208980,CH471135,AB003039,AB006625,AF208967,AF208968,AF208969,AF208970,AK295679,AK307476,BC037330,NM_006210,AI089069,NG_012989,NM_001146184,NM_001146185,NM_001146186,NM_001146187,BC052616,BC136268,BC150272,CR933682,U90336 NP_006201,AAC83176,AAG42324,AAG42325,EAW72474,EAW72476,EAW72477,EAW72478,BAB85588,BAA22956,AAG35739,AAG35740,AAG35741,AAG35742,BAG58536,NP_001139656,NP_001139657,NP_001139658,NP_001139659,AAH52616,AAI36269,AAI50273,CAI45975,AAB50011,Q96Q96,Q9GZU2 Hs.726173 DKFZp781A095|KIAA0287|PW1|ZNF904|ZSCAN24 Kruppel-type zinc finger protein|paternally expressed 3|paternally expressed gene 3|zinc finger and SCAN domain-containing protein 24 protein-coding 2301272 PEG3AS PEG3 antisense RNA (non-protein coding) 18166281,15950772 100169890 NR_023847,AC006115,NG_012989 APEG3|NCRNA00155|PEG3-AS|PEG3AS miscrna 1322532 PELI1 pellino homolog 1 (Drosophila) 17675297,16951688,16344560,15917247,15489334,14702039,12804775,12496252,12477932,11306823,11132151,18326498,17207965,16884718,15276183,17997719 57162 AC012368,CH471053,AF300987,AK312441,AY364257,BC011419,BC050019,BC050533,BC063611,BM992606,BX649152,DA804964,AF302505,AJ278859,AK027668,NM_020651 NP_065702,AAY24274,EAW99948,EAW99949,EAW99950,BAG35350,AAQ76816,AAH11419,AAH50019,AAH63611,Q53T26,Q96FA3,ADQ32988,AAG15393,CAC04320,AAG17451,BAB55280 Hs.727530 DKFZp686C18116|MGC50990 pellino-1|pellino-related intracellular-signaling molecule|protein pellino homolog 1 protein-coding 1353013 PELI2 pellino homolog 2 (Drosophila) 1580863 16884718,17675297,20379614,15276183,12860405,16713569,15489334,15213237,12804775,12477932,12370331,11306823,18326498,17997719 57161 NM_021255,AL138995,AL355073,CH471061,AF302502,AK025208,AK315727,AL133605,AL709755,BC009476 NP_067078,EAW80689,AAG15390,BAB15084,BAG38082,CAH56388,AAH09476,Q659D8,Q9H716,Q9HAT8 Hs.657926 pellino-2|protein pellino homolog 2 protein-coding 1605259 PELI3 pellino homolog 3 (Drosophila) Toll-like receptors (TLRs; see MIM 603030) and IL1R (IL1R1; MIM 147810) are part of the innate immune response aimed at mobilizing defense mechanisms in response in infection or injury. Pellino proteins, such as PELI3, are intermediate components in the signaling cascades initiated by TLRs and IL1R (Jensen and Whitehead, 2003 [PubMed 12874243]).[supplied by OMIM] 12874243,16344560,15917247,15489334,14702039,12477932,16884718,17675297,18326498 246330 NM_145065,NM_001098510,AP002748,CH471076,CQ783886,AF487456,AF487457,AK074201,AK075253,AK094060,AL834395,BC021256,BC025723,BC127759,CR606152,CR619936,DA203229 NP_659502,NP_001091980,EAW74532,EAW74533,EAW74534,EAW74535,EAW74536,CAF86908,AAO49465,AAO49466,BAB85015,BAC11499,BAC04275,CAD39057,AAH21256,AAH25723,AAI27760,Q8N2H9 Hs.656875 MGC35521 pellino 3|pellino-3|protein pellino homolog 3 protein-coding 1343336 PELO pelota homolog (Drosophila) This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq] 1580863 20406461,17353931,17669516,17081983,15635413,15489334,14702039,12477932,11060452,10810093,20306291,19913121,20628086 53918 NM_015946,NG_002793,AC026230,AF143952,AF118075,AF132951,AF139828,AK025729,AK056144,AK312633,AY117399,BC005889,BC007249,BC007650,BC022789,CR590680,CR593440,CR598605,CR598853,CR599348,CR599988,CR604356,CR606638,CR609796,CR610567,CR611502,CR614560,CR617340,CR619811,CR620217,CR622976,CH471123 NP_057030,AAG22575,AAF22019,AAD27726,AAG22574,BAG51633,AAM89414,AAH05889,AAH07249,AAH07650,AAH22789,Q9BRX2,Q9UHT8,ABM83876,ABM87197,EAW54864,EAW54870 Hs.644352,Hs.669791 CGI-17|PRO1770 protein pelota homolog protein-coding 1604366 PELP1 proline, glutamate and leucine rich protein 1 PELP1 is a coactivator of estrogen receptor (see ESR1; MIM 133430)-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors (Choi et al., 2004 [PubMed 15456770]).[supplied by OMIM] 19478391,19048289,18950845,18682536,18559538,18505929,18261753,18079323,17804729,17545633,17192406,17128415,17081983,16826428,16574651,16567619,16565220,16352611,16297421,16140940,16021574,15994929,15579769,15489334,15456770,15374949,15345747,15231748,14963108,12682072,12477932,12403846,11790298,11481323,15466214,16169070,19321449,20448663,15960975,19495959,19800002 27043 NM_014389,AC091153,CH471108,AF547989,AI927300,AK226056,AK291163,AK293838,AK299084,AY882602,BC002875,BC010457,BC039131,BC069058,DC417876,U88153,U88154 NP_055204,EAW90424,EAW90425,EAW90426,AAN41255,BAF83852,BAG57238,BAG61148,AAW80659,AAH02875,AAH10457,AAH69058,AAC17708,AAC17709,O15451,Q8IZL8 Hs.513883 HMX3|MNAR|P160 modulator of non-genomic activity of estrogen receptor|modulator of nongenomic activity of estrogen receptor|proline and glutamic acid rich nuclear protein|proline, glutamic acid and leucine rich protein 1|proline-, glutamic acid- and leucine-rich protein 1|proline-, glutamic acid-, leucine-rich protein 1|transcription factor HMX3 protein-coding 732310 PEMT phosphatidylethanolamine N-methyltransferase This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. The protein localizes to the endoplasmic reticulum and mitochondria-associated membranes. The gene is within the Smith-Magenis syndrome region on chromosome 17. Alternate splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq] 1642369,1642370,1642378,1580863,1300048,729486 17207965,9989271,19343046,19262398,19260141,19211833,19167960,18230680,17881348,17720317,17456783,17391797,16816108,16051693,15927961,12931022,12842883,12477932,12431977,19647326,19737740,19878569,20379614,20492333,20534746,11997338,11420179,10931946,10100195,9371769,9370326,8978486,8344945,7219528,6830234,3223955,3025802,2722775,2295142,509240,19913121,20628086,20662904,20861172 1642369,1642370,1642378,729486 10400 BC050593,CR457099,CR611135,CR614541,NM_007169,NM_148173,AC020558,AF294468,CH471196,AB029821,AF044214,AF113126,AF176806,AF176807,AK302251,BC000557,NM_148172,EU574003 ADQ33077,AAH50593,CAG33380,Q71UY0,Q9UBM1,NP_680477,NP_009100,NP_680478,AAK19172,EAW55700,EAW55701,EAW55702,BAA82407,AAQ13425,AAF14867,AAD53291,AAD53292,BAG63603,AAH00557,ACB21050 Hs.287717 MGC2483|PEAMT|PEMPT|PEMT2|PNMT OTTHUMP00000065539|phosphatidylethanolamine N-methyltransferase protein-coding 68998 PENK proenkephalin 1580863 20546612,7057924,19086053,18391951,18184800,18082911,17599100,17503481,17198183,17074347,16621157,16406203,15489334,12477932,12000709,11140838,9357452,9126357,8206338,7829101,7759618,7704301,7560016,7559749,6761648,6281660,2893547,1729392,20628265,18240029,19874574,20207019,20379614,18577758,20734064 5179 NM_006211,NM_001135690,AC023464,CH471068,J00122,J00123,V00509,AK314908,BC032505,BC107706,BI496610,BI913625,CR541808,CR541828,DB496514 NP_006202,NP_001129162,EAW86785,EAW86786,EAW86787,AAB59409,CAA23767,BAG37420,AAH32505,AAI07707,CAG46607,CAG46627,P01210,Q3B7B1,ABM81791,ABM81797,ABM84953 Hs.339831 enkephalin A|preproenkephalin|proenkephalin-A protein-coding 1317337 PEO1 progressive external ophthalmoplegia 1 Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001).[supplied by OMIM] 1580863,1600544 17620490,17324440,16135556,15668446,15509589,15181170,15167897,15164054,14702039,12975372,12921794,12872260,12707443,12686611,12557300,12477932,12163192,11756592,11431692,7719341 1600544 56652 CR593649,CR626239,BX640829,AF292004,AF292005,AK022959,AK025485,BC013349,BC033762,BG473173,NM_021830,AL133215,CH471066 Q6PJP5,Q96RR1,Q9H6V3,CAE45905,EAW49793,EAW49794,AAK69558,AAK69559,BAB15148,AAH13349,AAH33762,NP_068602,CAI10924,CAI10925 Hs.22678 C10orf2|FLJ21832|PEO|PEOA3|SANDO|TWINL protein-coding 1348424 PEPB peptidase B 5182 1345031 PEPC peptidase C 5183 1354493 PEPD peptidase D Xaa-Pro dipeptidase is a cytosolic dipeptidase that hydrolyzes dipeptides with proline or hydroxyproline at the carboxy terminus (but not Pro-Pro). It is important in collagen metabolism because of the high levels of iminoacids. [provided by RefSeq] 1580863 19263194,19401414,19823062,20087956,1972707,18989777,18607169,18550075,18514097,18387361,18202846,17999410,17604013,17570078,17377743,17142620,17096092,16999949,16713569,16097034,15878628,15489334,15309682,15302935,14702039,12477932,12384772,11840567,11820613,10965990,9373149,9328822,9020526,8900231,8198124,8125298,2925654,2881880,2705457,2365824,20383038,20486204,20626024 5184 AW512991,NG_013358,NM_001166056,NM_001166057,AC008744,AC010485,M35496,AK057538,AK225037,AK290756,AK290781,AK291561,AK293126,AK294619,BC004305,BC015027,BC028295,BT006692,CR541669,CR590409,CR590549,CR598964,NM_000285,CR609932,CR617788,CR617814,CR619095,CR619694,CR626035,CR626494,DC385464,DC395475,J04605 NP_001159528,NP_001159529,NP_000276,BAF83445,BAF83470,BAF84250,BAG56678,BAG57802,AAH04305,AAH15027,AAH28295,AAP35338,CAG46470,AAA60064,P12955,ABM82040,ABM85220 Hs.36473 MGC10905|PROLIDASE X-Pro dipeptidase|aminoacyl-L-proline hydrolase|imidodipeptidase|proline dipeptidase|xaa-Pro dipeptidase protein-coding 1350203 PEPE peptidase E 5185 1349050 PER1 period homolog 1 (Drosophila) This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq] 1580863 19912323,17718421,19675098,19693801,19752089,19839995,19861640,19923301,19934327,20072116,20174623,20481271,17440215,17274950,17264841,17106427,17081983,17051316,16757810,16678109,16528748,16344560,15917222,15790588,15781181,14750904,14712925,12916719,12893774,12782655,12477932,11865049,11726537,11597585,11306557,11165242,11119726,10940553,10857746,10848614,10837028,10790862,10531061,9856465,9333243,9323128,19296127,19148895,19058789,19013183,18990770,18821565,18480551,18444243,18321934,18228528,18095154,17994337,17984998,17971899,17699798,17621597,17592726,9455484,9427249,15800623,20861012,20541418,20978934 5187 AB030817,AC129492,AF102137,AF284444,CH471108,AB002107,AB088477,AF022991,AI952483,AK291061,NM_002616,AK295410,BC028207,BC072458,BC137346,BC144593,DA411574,DA835861 NP_002607,BAA94085,AAF15544,AAG01149,EAW90088,EAW90089,EAW90090,EAW90091,BAA22633,BAC06326,AAC51765,BAF83750,BAG58361,AAH72458,AAI37347,O15534,Q6IN51,Q9H2D0 Hs.445534 MGC88021|PER|RIGUI|hPER Period, drosophila, homolog of|circadian clock protein PERIOD 1|circadian pacemaker protein RIGUI|hPER1|period circadian protein homolog 1 protein-coding 737181 PER2 period homolog 2 (Drosophila) This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. [provided by RefSeq] 1600411,1580863 17218255,9427249,19470168,19299560,19106159,19058789,19013183,18575464,9856465,9349507,9205841,7592751,18518968,10428031,18517031,18505821,18444243,18430226,17971899,17599055,17457720,17440215,17274950,17106427,16528748,16519674,16344560,16338760,16120104,16097765,15985538,15815621,15800623,15790588,14750904,14712925,12565145,12477932,12372299,11533252,11232563,11165242,11076863,10848614,10837028,10531061,19500131,19605937,19693801,19714310,19839995,19916842,19926610,19934327,20072116,20174623,20180986,20187847,20396431,20481271,20497782,20886252,20931356,20978934,21050724,19913121,20554694,20628086 1600411 8864 NM_022817,NG_012146,AC012485,AY647991,CH471063,AB002345,AB012614,AK294876,AK304108,DA226434,EF015905 NP_073728,AAX88976,AAT68170,EAW71153,EAW71154,EAW71155,BAA20804,BAA83709,BAG57975,BAG65011,O15055,Q6DT41,AAI11454,ABM64216 Hs.58756 FASPS|KIAA0347 circadian clock protein PERIOD 2|hPER2|period 2|period circadian protein 2|period circadian protein homolog 2|period homolog 2 protein-coding 1352533 PER3 period homolog 3 (Drosophila) This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. [provided by RefSeq] 1580863 19716732,19967263,18517031,19516903,19360490,19328558,19013183,18990770,18835917,18789374,18714788,17984998,17512705,17451453,17346965,17309758,16999817,16710414,16528748,15790588,15700718,15475734,14750904,14712925,14701732,12655319,12477932,11865049,11306557,10899319,10837028,10428031,9427249,7622044,15800623,18444243,19444755,19553435,19693801,19839995,19861640,19926609,19934327,20072116,20149345,20174623,20364331,20469812,20978934,20625127,21070773,21102463,19913121,20628086 8863 AY493418,BC026102,BC111010,BC144137,BC146781,NM_016831,AB047521,AB047530,AB047531,AB047532,AB047533,AB047534,CH471130,Z98884,AB047686,AK299123,AK307760,AK308303,AL157954,EF015893 AAS72879,AAH26102,AAI11011,AAI46782,P56645,Q2TAB4,Q5H8X5,Q8TAR6,CAB76084,NP_058515,BAB63250,BAB63251,BAB63252,BAB63253,BAB63254,BAB63255,EAW71583,EAW71584,EAW71585,EAW71586,CAI21434,CAI21435,CAI21436,BAB32925,BAG61177,ABM64204 Hs.162200 GIG13 cell growth-inhibiting gene 13 protein|circadian clock protein PERIOD 3|growth-inhibiting protein 13|hPER3|period 3|period circadian protein 3|period circadian protein homolog 3 protein-coding 1321113 PERP PERP, TP53 apoptosis effector 18029348,20800603,19040420,19158843,16344560,16303743,15489334,14726658,14702039,14574404,12752121,12477932,11062687,10733530,9373149,8889548,8125298,19913121,20628086,19353588,20306497,20453000 64065 NM_022121,AL023582,AL355362,CH471051,CQ782552,AF317550,AJ251830,AK074585,AK075082,AK093516,AK097387,AK097958,AK225907,AK314526,AY157578,BC010163,BU674771,CA310443,CR590833,CR591362,CR591601,CR592083,CR601676,CR602989,CR604358,CR606105,CR607802,CR615716,CR617416,CR621531,CR623871,CX784592,DA750046,DR422553 NP_071404,CAI21563,CAI21518,EAW47920,EAW47921,CAF85829,AAG35063,CAC17766,BAC11074,BAC11390,BAG52734,BAG53462,BAC05205,BAG37120,AAO13162,AAH10163,Q96FX8,ABM83596,ABW03525 Hs.201446 KCP1|KRTCAP1|PIGPC1|RP3-496H19.1|THW|dJ496H19.1 1110017A08Rik|KCP-1|keratinocyte-associated protein 1|keratinocytes associated protein 1|p53 apoptosis effector related to PMP-22|p53 apoptosis effector related to PMP22|p53-induced protein PIGPC1|transmembrane protein THW protein-coding 1342716 PERQ2 PERQ amino acid rich, with GYF domain 2 59281 1352026 PERQ3 PERQ amino acid rich, with GYF domain 3 59280 1345815 PES1 pescadillo homolog 1, containing BRCT domain (zebrafish) This gene encodes a protein that is abnormally elevated in malignant tumors of astrocytic origin. It is a strongly conserved gene containing a BRCT domain that is essential for the activity of this gene product. The gene plays a crucial role in cell proliferation and may be necessary for oncogenic transformation and tumor progression. [provided by RefSeq] 1580863 17353931,15489334,15273728,16344560,15635413,15467761,15461802,16043514,16738141,17353269,15225545,14702039,12477932,12429849,12022229,11790298,11071894,10591208,9847074,8985183,19764998,20011973 23481 NM_014303,AC005006,CH471095,AB451380,AK096320,AK127185,AK315518,AU130886,BC032489,BQ576244,CR456539,CR597567,CR597817,CR598932,CR607111,CR607661,CR608043,CR608268,CR611212,CR620248,CR620678,U78310,NR_036550 NP_055118,EAW59904,EAW59905,EAW59906,BAG70194,BAG53258,BAG54448,BAG37899,AAH32489,CAG30425,AAB61140,O00541,CAK54570,CAK54869 Hs.517543 PES OTTHUMP00000199070|OTTHUMP00000199073|pescadillo homolog protein-coding 1317305 PET112L PET112-like (yeast) 1580863 12665801,12477932,11042152,9373149,8125298,9878253,15342556,17903297,19805282,20877624 5188 AK225241,AK303461,AK312957,BC067838,BC130348,BC136547,BX537555,CR595488,CR621716,BP348031,NM_004564,AC092611,CH471056,AB019410,AF026851,AF151033,AK222887 BAG64504,BAG35796,AAI30349,AAI36548,CAH56162,O75879,Q4W5M8,Q53GP4,Q63Z41,NP_004555,AAY40897,EAX04981,EAX04982,EAX04983,AAD08640,AAF36119,BAD96607 Hs.119316 HSPC199|PET112 OTTHUMP00000220542|cytochrome oxidase assembly factor PET112 homolog|glu-ADT subunit B|probable glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial protein-coding 1346322 PEX1 peroxisomal biogenesis factor 1 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. [provided by RefSeq] 1580863 18029348,20546612,16854980,16449325,9398847,9588209,11439091,19105186,18391951,16344560,16257970,16141001,16088892,16086329,15502339,15489334,15328346,15098234,12853948,12840548,12717447,12690205,12477932,12402331,12126625,12032265,10447258,9671729,9539740,9447990,9398848,2606480 5189 NM_000466,NG_008341,AC000064,AC007566,CH236949,CH471091,AB008112,AB052090,AB052091,AB052092,AB052093,AB052094,AB209355,AF026086,AF030356,AK292955,AK293757,AK293848,AK295686,BC035575,CR598710,DA313282,DB461678,AI377121 NP_000457,AAB46346,EAL24149,EAL24151,EAW76840,EAW76841,EAW76842,EAW76843,EAW76844,BAA85162,BAB59061,BAB59062,BAB59063,BAB59064,BAB59065,BAD92592,AAB87880,AAB99758,BAF85644,BAG57177,BAG57246,BAG58539,AAH35575,O43933,Q59FV4,Q96S69,Q96S70,ABM81847 Hs.164682 ZWS|ZWS1 OTTHUMP00000209039|OTTHUMP00000209040|Zellweger syndrome|peroxin-1|peroxisome biogenesis disorder protein 1|peroxisome biogenesis factor 1 protein-coding 1319563 PEX10 peroxisomal biogenesis factor 10 This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 10837480,9700193,9683594,9922452,19105186,16710414,16344560,15489334,14713216,14702039,12477932,11390669,10862081,10704444,10562279,12096124,19549727,20695019 5192 CH471183,AB013818,AF060502,AK124816,BC000543,BC018198,CR542077,CR599184,CR606975,CR607804,CR615529,DA439481,NM_153818,NM_002617,NG_008342,AL513477 CAI22603,EAW56105,EAW56106,EAW56107,EAW56108,BAA87895,AAC18133,BAG54100,AAH00543,AAH18198,CAG46874,O60683,Q6FGN0,ABM82887,ABM86077,NP_722540,NP_002608 Hs.591454 MGC1998|NALD|RNF69 OTTHUMP00000221358|RING finger protein 69|peroxin 10|peroxin-10|peroxisome assembly protein 10|peroxisome biogenesis factor 10 protein-coding 1348303 PEX11A peroxisomal biogenesis factor 11 alpha 1580863 9792670,9714566,9922452,17220199,16567422,15489334,14702039,12477932,10704444,20826455 8800 NM_003847,AC013787,AB015594,AF093668,AK001415,AK297442,AK300978,AK313318,BC009697,BC101164,BC114384,CR542046,CR542075,CH471101 Q29R61,NP_003838,EAX02062,BAA32533,AAC78658,BAG50908,BAG59868,BAG62600,BAG36123,AAH09697,AAI01165,AAI14385,CAG46843,CAG46872,O75192,ABM84294,ABM87685,ABM87686,ABM87687,ABW03601 Hs.31034 MGC119947|MGC138534|PEX11-ALPHA 28 kDa peroxisomal integral membrane protein|PMP28|hsPEX11p|peroxin-11A|peroxisomal biogenesis factor 11A|peroxisomal membrane protein 11A|protein PEX11 homolog alpha protein-coding 1321208 PEX11B peroxisomal biogenesis factor 11 beta 1580863 20826455,10704444,17408615,15489334,14702039,12618434,12477932,12096124,9826565,9792670,11390669,16344560,19229552,9922452,16712791,20877624 8799 NM_003846,AL160282,CH471244,AB018080,AF093670,AK023991,AK094173,AK301983,BC011963,CR542047,CR608642,AW162134,BG435901,CB155824,DB054933,NM_001184795 NP_003837,EAW71422,EAW71423,BAA34812,AAC78660,BAG51247,BAG52835,BAG63391,AAH11963,CAG46844,O96011,NP_001171724 Hs.714608 PEX11-BETA peroxin-11B|peroxisomal biogenesis factor 11B|peroxisomal membrane protein 11B|protein PEX11 homolog beta protein-coding 1316043 PEX11G peroxisomal biogenesis factor 11 gamma 1580863 15489334,12559946,12477932,12417726,20826455 92960 NM_080662,AC008878,CH471139,AB095921,AL833945,BC008780 NP_542393,EAW69037,EAW69038,BAD01558,CAD38800,AAH08780,Q96HA9 Hs.515100 MGC4281 PEX11-gamma|peroxin Pex11p gamma|peroxin-11C|peroxisomal biogenesis factor 11C|peroxisomal biogenesis factor 11G|peroxisomal membrane protein 11C|protein PEX11 homolog gamma protein-coding 731687 PEX12 peroxisomal biogenesis factor 12 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq] 729522,1580863 10562279,9090384,12456682,9354782,9922452,19105186,17534573,16813573,16344560,15489334,15241794,14571262,12477932,12096124,11390669,10837480,10704444,9792857,9792670,9632816 729522 5193 NM_000286,NG_008447,AC015911,CH471147,U91522,AB004546,AI341587,AK312635,BC015751,BC031085,DA298874,U91521 NP_000277,EAW80143,AAC68813,BAA31559,BAG35519,AAH15751,AAH31085,AAC68812,O00623,ABM85048 Hs.591190 PAF-3 peroxin 12|peroxin-12|peroxisome assembly factor 3|peroxisome assembly protein 12 protein-coding 1321726 PEX13 peroxisomal biogenesis factor 13 This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq] 1580863 17207965,8858165,9653144,10704444,16449325,16344560,16006427,15489334,15146197,14715663,12477932,12096124,11865044,11402059,11390669,10441568,10441330,10332040,10087260,9878256,9094717,17474147,19449432 5194 NM_002618,NG_008665,AC010733,AC074249,CH471053,AB022192,AF048755,AK315244,BC067090,CN288682,CR609626,DB102467,U71374 ADQ32886,NP_002609,EAX00017,EAX00018,EAX00019,EAX00020,EAX00021,BAA88907,AAC39844,BAG37668,AAH67090,AAD05572,Q92968 Hs.161377 NALD|ZWS peroxin-13|peroxisomal membrane protein PEX13|peroxisome biogenesis factor 13 protein-coding 68470 PEX14 peroxisomal biogenesis factor 14 This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq] 1580863 11863372,12488033,15146459,16449325,19197237,18285423,17081983,16710414,16344560,15489334,14715663,14702039,12477932,12096124,11865044,10704444,10212238,10022913,9653144,10837480,16169070,19913121,20628086,20395239,10562279,19584060,20379614 5195 NM_004565,NG_008340,AL139423,AL354956,AL591403,CH471130,AB017546,AF045186,AK002194,AK293684,AK298136,AK307416,AK307462,AK310726,AK313046,BC006327,BC017848,BC054017,CR450321,CR542083,CR599838,CR601012,CR601822,CR613663,DA494578 NP_004556,CAD20149,CAI19198,CAH70044,EAW71659,EAW71660,EAW71661,BAA36837,AAC39843,BAG51028,BAH11568,BAH12730,BAG35878,AAH06327,AAH17848,CAG29317,CAG46880,O75381,Q8WVL1,ABM83701,ABM86831 Hs.149983 MGC12767|NAPP2|Pex14p|dJ734G22.2 NF-E2 associated polypeptide 2|PTS1 receptor docking protein|PTS1 receptor-docking protein|peroxin-14|peroxisomal membrane anchor protein PEX14|peroxisomal membrane anchor protein Pex14p|peroxisomal membrane protein PEX14 protein-coding 1322796 PEX16 peroxisomal biogenesis factor 16 The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq] 1580863 15713480,16717127,9837814,12223482,9922452,15813749,16341674,15489334,15146197,14709540,12477932,12096124,20647552,17207965,11390669,10704444,11890679 9409 NM_004813,NM_057174,NG_008460,AC068385,CH471064,AB016531,AF118240,BC000467,BC004356,BM746616,CN285513,CR612893,CR619814 NP_004804,NP_476515,EAW68022,EAW68023,EAW68024,BAA88826,AAD22466,AAH00467,AAH04356,Q9Y5Y5,ADQ32359 Hs.100915 peroxin 16|peroxin-16|peroxisomal biogenesis factor 16|peroxisomal membrane protein PEX16|peroxisome biogenesis factor 16 protein-coding 1315796 PEX19 peroxisomal biogenesis factor 19 This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq] 1580863 20531392,10704444,9339377,19197237,18782765,18174172,16895967,16582619,16344115,16280322,15781447,15489334,15252024,15231748,16791427,15007061,14715663,14713233,14709540,14558883,12477932,12096124,11883941,11453642,11390669,11259404,10777694,10051604,9418908,8076834,16189514,16459329,16980692,17069900,19114594,19195843,20554521,20615514,20683989,21102411,12924628,15713480 5824 NM_002857,NG_008637,AL513282,CH471121,Y09048,AB018541,AB062286,AK300368,AK303099,AY434724,BC000496,BC064979,BT006879,CB993363,CR603590,CR606003,CR606477,CR611992,CR623597,DC400252,X75535,CD557913,DC405033,NM_001193644,NR_036492,NR_036493 NP_002848,CAI12456,CAI12457,EAW52727,EAW52728,EAW52729,CAA70257,BAA76291,BAB93469,BAH13271,BAH13899,AAH00496,AAP35525,CAA53225,P40855,Q5QNY5,ABM82343,ABM85517,NP_001180573 Hs.517232 D1S2223E|FLJ55296|HK33|PMP1|PMPI|PXF|PXMP1 33 kDa housekeeping protein|housekeeping gene, 33kD|peroxin-19|peroxisomal biogenesis factor 19|peroxisomal farnesylated protein protein-coding 1350248 PEX26 peroxisomal biogenesis factor 26 This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 15713480,16854980,15858711,19105186,16763195,16344560,16257970,16189514,15489334,15461802,15342556,14702039,12851857,12717447,12477932,10591208,15542397 55670 CA433324,CB989626,NM_001199319,XR_109696,NM_001127649,NG_008339,AC016027,CH471193,AB089678,AB103104,AB103105,AB103106,AB103107,AB103108,AB103109,AB103110,AB242826,AB242827,AB242828,AB242829,AB242830,AI375247,AI636019,AK000065,NM_017929,AK000702,BC016280,BC047320,BG257217,BG910944,BP270408,CR456362,DA164404 NP_001186248,NP_060399,NP_001121121,EAW57782,EAW57783,EAW57784,BAC66616,BAC78802,BAC78803,BAC78804,BAC78805,BAC78806,BAC78807,BAC78808,BAE72692,BAE72693,BAE72694,BAE72695,BAE72696,BAA90920,BAA91329,AAH16280,AAH47320,CAG30248,Q2PEF9,Q2PEG0,Q2PEG1,Q2PEG2,Q2PEG3,Q7Z2D7,Q7Z412,CAK54504,CAK54803 Hs.648441,Hs.517400 FLJ20695|PEX26M1T|Pex26pM1T peroxin-26|peroxisome assembly protein 26|peroxisome biogenesis disorder, complementation group 8|peroxisome biogenesis disorder, complementation group A|peroxisome biogenesis factor 26 protein-coding 1352714 PEX3 peroxisomal biogenesis factor 3 The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq] 1580863 20554521,10704444,11883941,10958759,12924628,15007061,9657383,10430017,18174172,16895967,16344560,15489334,15342556,14713233,14702039,14574404,12477932,12096124,10968777,10848631,10679269,9922452,16189514,11390669,19479899,19715730,21102411 8504 CR621449,DB576209,NG_008459,AJ009866,AJ009867,AJ009868,AJ009869,AJ009870,AJ009871,AJ009872,AJ009873,AJ009874,AL031320,CH471051,AB035307,AJ001625,AJ131389,AK023593,AK025644,AK300907,AU137342,AY277600,BC014551,BC015506,BP377713,BX648803,CR542062,CR593089,CR595026,CR615782,NM_003630 P56589,Q6FGP5,Q7Z6V3,NP_003621,CAA08904,CAB53744,CAD92492,EAW47866,BAA97993,CAA04879,CAA10362,BAG62543,AAQ18039,AAH14551,AAH15506,CAG46859 Hs.7277,Hs.592832 DKFZp686N14184|FLJ13531|TRG18 peroxin-3|peroxisomal assembly protein PEX3|peroxisomal biogenesis factor 3|transformation-related protein 18 protein-coding 1316906 PEX5 peroxisomal biogenesis factor 5 The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 9653144,10837480,19197237,18712838,18359941,17428317,17399738,17317787,17157249,16403517,16344560,16314507,16189514,16169070,15911627,15866874,15489334,15328363,14652019,12578380,12477932,12456682,12411433,12096124,11865044,11546814,11438541,11415446,11101887,10567403,10562279,10462504,10212238,9820813,9418886,9398847,9373149,8991089,8858165,8586442,8125298,7790377,7719337,7706321,20178365,11336669,16012170,19208625,19584060,19632994,9668159 5830 AK299534,AK301700,AK302742,AK303515,AK312317,AK316250,BC010621,CR606696,CR624220,DA399480,U19721,X84899,Z48054,NM_000319,NM_001131023,NM_001131024,NM_001131025,NM_001131026,NG_008448,AC018653,CH471116,U35407,AI252784,AK225126,AK292256,AK299105 BAG61481,BAG63172,BAG63957,BAG64544,BAH14621,AAH10621,AAC50103,CAA59324,CAA88131,P50542,Q13335,ABM82068,ABM85247,NP_000310,NP_001124495,NP_001124496,NP_001124497,NP_001124498,EAW88670,EAW88671,EAW88672,EAW88673,EAW88674,EAW88675,AAC50344,BAF84945,BAG61162 Hs.567327 FLJ50634|FLJ50721|FLJ51948|PTS1-BP|PTS1R|PXR1 PTS1 receptor|peroxin-5|peroxisomal C-terminal targeting signal import receptor|peroxisomal biogenesis factor 5|peroxisomal targeting signal 1 (SKL type) receptor|peroxisomal targeting signal 1 receptor|peroxisomal targeting signal import receptor|peroxisomal targeting signal receptor 1|peroxisome receptor 1 protein-coding 1345397 PEX5L peroxisomal biogenesis factor 5-like 737633 15489334,15302887,12477932,11463335,20379614 737633 51555 NM_016559,AC007687,AC090024,AC092939,CH471052,AB032592,AB032593,AJ245503,AK314283,BC036183,AK294227,AK294501,AK295349,AK295386,AK299633,AK303716 NP_057643,EAW78380,EAW78381,EAW78382,BAA92878,BAA92879,CAC01120,BAG36942,AAH36183,Q8IYB4,BAH11705,BAH11791,BAH12041,BAH12054,BAH13081,BAH14028 Hs.478393 PEX5R|PXR2|PXR2B OTTHUMP00000212020|OTTHUMP00000212021|OTTHUMP00000212022|OTTHUMP00000212023|OTTHUMP00000212024|OTTHUMP00000212025|OTTHUMP00000212026|OTTHUMP00000212027|PEX2-related protein|PEX5-like protein|PEX5-related protein|Pex5p-related protein|peroxin-5-related protein|peroxisome biogenesis factor 5-like|pex5Rp protein-coding 734166 PEX6 peroxisomal biogenesis factor 6 This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. [provided by RefSeq] 1580863,729462 19433277,19877282,19105186,16344560,16257970,15489334,15231748,14651998,12717447,12477932,11873320,11355018,10408779,9671729,9588209,9373149,8940266,8125298,8670792,11439091,16854980 729462 5190 NM_000287,NG_008370,AF108098,AL158815,CH471081,U56602,AB051076,AB051077,AB051078,AB208906,AK225704,AK314237,BC033487,BC048331,BQ773648,D83703,DA462214,DA755886 NP_000278,AAF62564,CAI19463,EAX04125,EAX04126,EAX04127,EAX04128,EAX04129,AAC50655,BAB83046,BAB83047,BAB83048,BAD92143,BAG36906,AAH48331,BAA12069,Q13608,Q59H53,Q5T8W1,Q8WYQ0,Q8WYQ1 Hs.656425 PAF-2|PAF2|PXAAA1 peroxin-6|peroxisomal AAA-type ATPase 1|peroxisomal-type ATPase 1|peroxisome assembly factor 2|peroxisome biogenesis factor 6 protein-coding 1318278 PEX7 peroxisomal biogenesis factor 7 This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq] 1580863 19913121,20628086,20634891,9090381,9090383,12522768,9090382,18327563,15489334,15342556,14974078,14713215,12477932,12325024,11931631,11865044,11781871,11546814,10673331,10212238,10087260,10083738,9472033,9326939,20145307,17207965 5191 NM_000288,NG_008462,AF180814,AL121933,AL357082,AL365223,CH471051,AL583681,BC006268,BC031606,BP246238,BQ011494,CR542054,CR542076,CR594787,U76560,U88871 NP_000279,AAF37350,CAI15471,CAI15472,CAI15714,EAW47940,EAW47941,AAH06268,AAH31606,CAG46851,CAG46873,AAB50556,AAC51238,O00628,Q6FGN1,ADQ32059 Hs.280932 PTS2R|RCDP1|RD PTS2 receptor|peroxin-7|peroxisomal PTS2 receptor|peroxisomal biogenesis factor 7|peroxisomal targeting signal 2 receptor|peroxisome targeting signal 2 receptor protein-coding 735657 PF4 platelet factor 4 Platelet factor-4 is a 70-amino acid protein that is released from the alpha-granules of activated platelets and binds with high affinity to heparin. Its major physiologic role appears to be neutralization of heparin-like molecules on the endothelial surface of blood vessels, thereby inhibiting local antithrombin III activity and promoting coagulation. As a strong chemoattractant for neutrophils and fibroblasts, PF4 probably has a role in inflammation and wound repair (Eisman et al., 1990 [PubMed 1695112]).[supplied by OMIM] 1580863 19911252,17265155,12384403,12466273,9531587,12041672,6945600,10666185,1688470,2140694,11685038,17244792,5789664,14718574,19470732,19397833,19258923,19245795,19201759,18797178,18648521,18632422,18539895,18369708,18000592,17998245,17914028,17827342,17703412,17700216,17675521,17636189,17381065,20050998,20979952,17220270,17218382,17090548,17077331,16881736,16806233,16317101,16304054,15994292,15964840,15815621,15788441,15728475,15591119,15531763,15489334,15459010,15304392,15291808,15265941,15187018,15034805,14652645,14592823,14575696,12878486,12782716,12732210,12609838,12586630,12477932,12223528,12193731,12097379,11986215,11830470,11468158,10464257,9558385,9395524,8613703,8511754,8031770,7835432,7547867,7524669,6445090,6187750,3622011,3098319,1695112,893407,803847,601757,267922,11083865,10233851,19913121,20628086,18577758,20539902,2834384,15622770,18240029,19625657,19750196,19773294,19805618,19910578,20104488,20182908,20503287,20185595,20688960 5196 NM_002619,AC097709,AF349466,CH471057,AJ705588,BC093965,BC112093,CR407677,M25897 NP_002610,AAY41003,AAK29643,EAX05694,AAH93965,AAI12094,CAG28605,AAA60066,P02776 Hs.81564 CXCL4|MGC138298|SCYB4 C-X-C motif chemokine 4|PF-4|chemokine (C-X-C motif) ligand 4|iroplact|oncostatin-A|platelet factor 4 protein-coding 1353530 PF4V1 platelet factor 4 variant 1 1580863 18563170,15459074,12665801,2725510,1695112,12477932,20237496,20688960 5197 AC092438,NM_002620,CH471057,M26167,BC130653,BC130657 NP_002611,EAX05692,AAA60067,AAI30654,AAI30658,P10720,ADR82796 Hs.72933 CXCL4L1|CXCL4V1|PF4-ALT|PF4A|SCYB4V1 C-X-C motif chemokine 4|PF4alt|PF4var1|platelet factor 4 variant|platelet factor 4, variant 1 (PF4-like) protein-coding 1312648 PFAS phosphoribosylformylglycinamidine synthase Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq] 1580863 1574589,19615732,20379614,8110788,10548741,17353931,17081983,12477932,9328467,9205841,20562859 5198 NM_012393,AC135178,CH471108,AB002359,AK292402,AK292804,AK295895,AL044326,BC006522,BC009318,BC031807,BC063538,BC146768,BC167158 NP_036525,EAW90067,EAW90068,EAW90069,BAA20816,BAF85091,BAF85493,BAG58688,AAH06522,AAH63538,AAI46769,AAI67158,O15067,Q6P4B4,Q9BR56 Hs.573976 FGAMS|FGARAT|KIAA0361|PURL FGAM synthase|FGAR amidotransferase|formylglycinamide ribotide amidotransferase|formylglycinamide ribotide synthetase|phosphoribosylformylglycinamidine synthase protein-coding 1313729 PFDN1 prefoldin subunit 1 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq] 1580863 8744932,18029348,16415341,16169070,15489334,14702039,14634002,14615539,12748950,12477932,12456645,11884745,11535601,11521196,10542082,10209023,10191080,9630229,9373149,8125298,17353931,19615732 5201 AC011380,CH471062,AA910992,AK093558,AK223394,AK315353,BC003620,BC006202,BC011869,BG707314,CR597655,CR599219,CR603344,CR604906,CR605241,CR610512,NM_002622,CR613979,CR622770,CR623755,Y17392 NP_002613,EAW62070,EAW62071,EAW62072,BAD97114,BAG37749,AAH03620,AAH06202,AAH11869,CAA76759,O60925 Hs.483564 PDF|PFD1 prefoldin 1|prefoldin subunit 1 protein-coding 1349968 PFDN2 prefoldin subunit 2 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq] 1580863 9630229,15489334,14743216,14634002,12477932,11042152,10931946,10542082,10209023,10051400,14615539,17353931,17643375,19450687,19615732 5202 NM_012394,AL591806,CH471121,AF117237,AF151065,AF165883,AK024531,AK315736,BC012464,BC047042,BI597083 NP_036526,CAI15378,EAW52658,AAF17218,AAF36151,AAD47084,BAG38091,AAH12464,AAH47042,Q9UHV9 Hs.492516 PFD2 prefoldin 2|prefoldin subunit 2 protein-coding 1347549 PFDN4 prefoldin subunit 4 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. 1580863 19615732,9630229,15489334,14634002,12477932,12456645,11884745,11780052,11381030,10542082,10209023,8744932,14615539 5203 NM_002623,AL133335,CH471077,AK312059,BC010953,CN482830,CR612321,U41816 NP_002614,CAI19316,EAW75572,BAG34995,AAH10953,AAB17063,Q9NQP4 Hs.91161 C1|PFD4 prefoldin 4|prefoldin subunit 4|protein C-1 protein-coding 1322898 PFDN5 prefoldin subunit 5 This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 11535601,16919237,17728244,19615732,9792694,16130169,18029348,18398700,18281035,16173081,15489334,14702039,12477932,11844794,11567024,10542082,10209023,9630229,14634002,20098747 5204 AB055804,AB055805,AK024094,AK292623,BC003373,BC062671,NM_002624,NM_145897,AB055802,AC073611,CH471054,AB055803,BE392248,BT007195,CR597448 BAB32644,BAB32645,BAB32646,BAF85312,AAH62671,NP_002615,NP_665904,BAB32643,EAW96683,EAW96684,EAW96685,EAW96686,AAP35859,Q99471,Q9C083,Q9C084 Hs.655327 MGC5329|MGC71907|MM-1|MM1|PFD5 C-Myc-binding protein Mm-1|c-myc binding protein|myc modulator 1|myc modulator-1|prefoldin 5|prefoldin subunit 5 protein-coding 1351314 PFDN6 prefoldin subunit 6 1300397,1580863 9630229,17257322,15489334,14634002,12477932,9545376,9521053,8889548,17353931,17643375,19450687,19615732,19851445,10209023,16712791,16341674 1300397 10471 NM_014260,AL662820,AL662827,BX000343,CH471081,CR759786,CR759817,Z97184,AK312150,BC039033,BC059783,BE794658,BM834357,BU734446,CR609151,BM686351,CB124036,NM_001185181 NP_055075,CAI18116,CAI17519,CAI41831,EAX03705,EAX03706,EAX03707,CAQ08255,CAQ08025,CAB09993,CAC88187,BAG35084,AAH39033,AAH59783,O15212,Q5STK2,NP_001172110 Hs.446374 H2-KE2|HKE2|KE-2|MGC70744|PFD6 HLA class II region expressed gene KE2|KE2 protein|OTTHUMP00000029360|OTTHUMP00000178657|hla class ii region expressed gene ke2|prefoldin 6|prefoldin subunit 6|protein Ke2 protein-coding 732809 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. [provided by RefSeq] 1300048,2302793,2302681,1580863 2837207,12379646,12721358,19474452,16344560,15772651,15489334,12477932,9119406,2540168,2163524,11522786,7574501 2302793,2302681 5207 NM_002625,AL020991,AL049732,CH471154,AK300724,AK314089,BC096077,BC096078,BC096079,DB187700,M19938,X52638,NG_013254 NP_002616,CAI43127,CAI42048,EAW93207,BAG62397,BAG36785,AAH96077,AAH96078,AAH96079,AAA35818,CAA36861,P16118,Q4VBA8,Q4VBA9 Hs.444304 F6PK|HL2K|MGC116715|MGC116717|PFRX 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1|6PF-2-K/Fru-2,6-P2ASE liver isozyme|6PF-2-K/Fru-2,6-P2ase 1|PFK/FBPase 1|fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase protein-coding 69042 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1300048,2302793,1580863 9464277,9652401,18039179,16710414,16025159,15925437,15489334,15324660,14702039,12853467,12477932,12065600,11522786,11374908,11129574,11245921,7904197,1655632,1322130,19423540,20406964,20438785,7574501 2302793 5208 NM_006212,NM_001018053,AJ005577,AL445493,CH471100,AB044805,AF470623,AJ005578,AK125661,AK292883,AK295367,AK302315,BC069350,BC069385,BC069583,BC069586,BC069600,BC075075,BC075076,BC112103,BC112105,BX510096,CR749442,EU334168 NP_006203,NP_001018063,CAA06605,CAH70777,CAH70778,EAW93507,EAW93508,BAB19681,AAL99386,CAA06606,BAF85572,BAG58328,BAG63653,AAH69350,AAH69385,AAH69583,AAH69586,AAH69600,AAH75075,AAH75076,AAI12104,AAI12106,CAH18280,ABY59650,O60825,Q5VVQ3,Q68DE0 Hs.282702 DKFZp781D2217|MGC138308|MGC138310|PFK-2/FBPase-2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2|6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2|6PF-2-K/Fru-2,6-P2ASE heart-type isozyme|6PF-2-K/Fru-2,6-P2ase 2|PFK/FBPase 2|PFKFB, cardiac|fructose-2,6-bisphosphatase, cardiac isozyme protein-coding 735560 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 2302793,1580863 16385451,19473963,19490427,20080744,7574501,20453422,15896703,8830046,16316985,18039179,17499765,17143338,16698023,16344560,16311927,16306349,16115917,15489334,15466858,14702039,12963966,12935880,12477932,12384552,11245987,11245921,10673355,10508479,10077634,10072580,9276680,9146922,9092801,17353931 2302793 5209 NM_001145443,NM_004566,AB012229,AB033994,AF041831,AF110958,AL157395,AL359960,CH471072,AF056320,AF109735,AI633567,AJ272438,AJ272439,AJ295747,AK094645,AK131307,AK291263,AK303039,AK304450,AL583908,BC037258,BC040482,BC042656,D49817,DA315586,DB068734,DC323583,L77662 NP_001138915,NP_004557,BAA25289,BAA89351,AAB99795,AAD23989,CAH73604,CAH73605,CAH73606,CAH73607,CAH73609,CAH73610,CAH73611,CAH73613,CAH72161,CAH72162,CAH72163,CAH72164,CAH72165,CAH72166,EAW86397,EAW86398,EAW86399,EAW86400,EAW86401,AAC62000,AAD08818,CAC34792,CAC34793,CAC20460,BAD18473,BAF83952,BAH13886,BAH14191,AAH40482,BAA08624,AAL40083,O60352,Q16875,Q5VX15,Q5VX18,Q5VX20,Q5W015,Q6ZNA2,Q9BQU2,Q9BQU3,Q9H178,Q9UBT0,ADR82745 Hs.195471 FLJ37326|IPFK2|PFK2 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase|6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase|6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3|6PF-2-K/Fru-2,6-P2ase 3|6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme|OTTHUMP00000019041|OTTHUMP00000019044|OTTHUMP00000019048|PFK/FBPase 3|fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase|iPFK-2|inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase|renal carcinoma antigen NY-REN-56 protein-coding 1344643 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 2302793,1580863 15642344,7574501,10095107,17143338,15925437,15489334,15474002,12477932,8830046 2302793 5210 NM_004567,AC134772,AY786551,CH471055,AF108765,AK298732,AK299097,AK312623,AY707863,AY714243,AY756062,AY756063,AY756064,BC010269,D49818,HI574332,FB342977,FB711100 NP_004558,AAV65753,EAW64890,AAD09427,BAH12859,BAH12949,BAG35509,AAU11326,AAU14998,AAV28717,AAV28718,AAV28719,AAH10269,BAA18921,Q16877,Q5XLC2,Q5XLC3,Q64EX5,Q66S35,ABM82561,ABM85751,CBX47655,CAR81489,CAS91505 Hs.476217 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4|6-phosphofructo-2-kinase/fructose-2,6-biphosphatase-4|6PF-2-K/Fru-2,6-P2ase 4|6PF-2-K/Fru-2,6-P2ase testis-type isozyme|OTTHUMP00000210154|PFK/FBPase 4|bifunctional enzyme with kinase and biphosphatase activities protein-coding 731398 PFKL phosphofructokinase, liver Phosphofructokinase (PFK) is a tetrameric enzyme that catalyzes a key step in glycolysis, namely the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate. Separate genes encode a muscle subunit (M) and a liver subunit (L). PFK from muscle is a homotetramer of M subunits, PFK from liver is a homotetramer of L-subunits, while PFK from platelets can be composed of any tetrameric combination of M and L subunits. The protein encoded by this gene represents the L subunit. Alternate splicing results in two transcript variants, one of which is a candidate for nonsense-mediated decay (NMD). [provided by RefSeq] 1300048,2301230,2301239,2302851,2302736,2302790,1580863 20602615,6444532,6444721,8780720,6227635,16780588,18996102,18254975,16713569,16189514,15592455,15489334,15231748,14702039,12840015,12665801,12477932,10830953,8931492,6455664,6445244,2948503,2944814,2533063,2139864,1565613,1446073,156693,16169070,17643375,19615732,20562859 2301230,2301239,2302851,2302736,2302790 5211 NR_024108,NM_002626,AP001060,AP001061,AP001062,AP001754,CH471079,X16911,X16912,X16913,X16915,X16916,X16917,X16918,X16919,X16920,X16921,X16922,X16923,X16924,X16925,X16926,X16927,X16928,X16929,X16930,AB209127,AK054735,AK091488,AK098228,AK303605,AK308437,BC004920,BC006422,BC007536,BC008964,BC009919,BC018295,BG390460,BQ067366,BU177678,BX351711,BX537446,BX641051,CA449348,CB997055,CR591167,CR601159,CR605822,X15573,X16914 NP_002617,BAA95561,EAX09439,EAX09440,CAB46744,BAD92364,BAG51419,BAG64620,AAH04920,AAH06422,AAH07536,AAH08964,AAH09919,AAH18295,CAD97688,CAE46026,CAA33597,P17858,Q59GI2,Q6MZK4,Q7L2M7,Q7Z3R9,Q9BSP4,ABM84361,ABM87791 Hs.255093 DKFZp686G1648|DKFZp686L2097|FLJ30173|FLJ40909|PFK-B 6-phosphofructokinase, liver type|liver-type 1-phosphofructokinase|phosphofructo-1-kinase isozyme B|phosphofructokinase 1|phosphofructokinase, liver, b-type|phosphohexokinase protein-coding 68621 PFKM phosphofructokinase, muscle The PFKM gene encodes the muscle isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. Mammalian PFK is a tetramer made up of various combinations of 3 subunits: muscle (PFKM), liver (PFKL; MIM 171860), and platelet (PFKP; MIM 171840), the genes for which are located on chromosomes 12q13, 21q22, and 10p, respectively. The composition of the tetramers differs according to the tissue type. Muscle and liver PFK are a homotetramers of 4M and 4L subunits, respectively. Erythrocytes contain both L and M subunits, which randomly tetramerize to form M4, L4, and M3L, M2L2, and ML3 hybrid forms of the holoenzyme (Vora et al., 1980 [PubMed 6444721]; Raben and Sherman, 1995 [PubMed 7550225]).[supplied by OMIM] 1300048,2302736,1599108,1580863 20800603,156693,18996102,19019082,20379614,8889548,20483646,20602615,6444721,8780720,12649290,6444532,18029348,19165527,17544406,16344560,15489334,15020257,14760703,12477932,12432079,10187848,9443500,9389749,9252390,8889589,8661033,8444874,7825568,7550225,7513946,7479776,6459054,2822475,2526045,2526044,2140573,2140567,1833270,125160 2302736,1599108 5213 BU683561,DA525437,DA560355,DA761651,DB081387,NG_016199,NM_001166686,NM_001166687,NM_001166688,NM_000289,AC004801,AC074029,CH471111,M24925,M36003,M59719,M59721,M59722,M59723,M59724,M59725,M59726,M59727,M59728,M59729,M59730,M59731,M59732,M59733,M59734,M59735,M59736,M59737,M59738,M59739,M59740,M59741,M59720,U24183,Y00698,AK126020,AK126229,AK303681,AK308185,AK312284,BC000534,BC007798,BC012799,BC013298,BC021203,BX537703,CR541698,DA795106,J05533,M26066 NP_001160158,NP_001160159,NP_001160160,NP_000280,EAW57973,EAW57974,EAW57975,AAA36436,AAA60069,AAA82938,AAA60068,AAA91985,CAA68692,P08237,P78457,Q6ZTT1,Q7KYX9,Q7Z683,Q96I60,BAC86498,BAG64674,AAH00534,AAH07798,AAH12799,AAH13298,AAH21203,CAD97816,CAG46499,AAA79220 Hs.75160 GSD7|MGC8699|PFK-1|PFK-M|PFK1|PFKA|PFKX 6-phosphofructo-1-kinase|6-phosphofructokinase, muscle type|PFK-A|phosphofructo-1-kinase isozyme A|phosphofructokinase 1|phosphofructokinase, polypeptide X|phosphofructokinase-M|phosphohexokinase protein-coding 731015 PFKP phosphofructokinase, platelet The PFKP gene encodes the platelet isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. The PFKP gene, which maps to chromosome 10p, is also expressed in fibroblasts. See also the muscle (PFKM; MIM 610681) and liver (PFKL; MIM 171860) isoforms of phosphofructokinase, which map to chromosomes 12q13 and 21q22, respectively. Vora (1981) [PubMed 6451249] determined that full tetrameric phophofructokinase enzyme expressed in platelets can be composed of subunits P4, P3L, and P2L2.[supplied by OMIM] 2302736,2302804,1580863 17353931,6444721,17658951,17544406,16964243,15716112,15592455,15489334,15302935,14760703,14702039,12963966,12477932,12438565,8889548,8117307,6451249,2822475,1533608,156693,156568,20712903,20562859,1834056,16385451,18682847,18996102,19615732,20602615 2302736,2302804 5214 AL451164,AL731533,CH471072,AA622586,AK092597,AK097692,AK128373,AK129843,AK130767,AK291841,AK308003,AK308226,AK309692,BC002536,BC021698,BC029138,BC043156,NM_002627,BU737488,CD365858,CR593800,CR598026,CR603216,CR621705,CR622143,CR624196,D21863,D25328,M64784 NP_002618,CAI39990,CAI39991,CAI39992,CAI39999,CAI40000,CAI40002,CAI40003,CAH69851,CAH69852,CAH69853,CAH69854,EAW86495,EAW86496,EAW86497,BAG52577,BAG53515,BAF84530,AAH02536,AAH21698,AAH29138,AAH43156,BAA21891,BAA04998,AAA36435,O14943,Q01813,Q49A78,Q5VSR5,Q5VSR6,Q5VSR7,Q8WTZ9,ABM86073,ABW03770 Hs.26010 FLJ40226|PFK-C|PFKF 6-phosphofructokinase type C|6-phosphofructokinase, platelet type|OTTHUMP00000018967|Phosphofructokinase, platelet type|phosphofructo-1-kinase isozyme C|phosphofructokinase 1|phosphohexokinase protein-coding 1353203 PFKX phosphofructokinase, polypeptide X 5215 733332 PFN1 profilin 1 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome. [provided by RefSeq] 1580863,2317552 20717968,20736409,19115233,19035654,19028693,18573880,18417352,18384219,18223293,17940506,17914456,17051635,16968742,16916647,16569658,16169070,15952740,15615774,15592455,15556561,15489334,15469846,14767055,14592989,12729790,12621583,12477932,12419186,12224553,12213210,12095630,12052260,11751973,10958683,10922060,10882740,10445846,10411937,10404225,9843499,9822597,9801792,9473484,9360613,8413665,8268157,7821789,7758455,3356709,3342873,1968707,9694849,10867004,19593789,19607826,19710142,20143334,20400688 2317552 5216 GU727630,NM_005022,AC109333,CH471108,AK312168,BC002475,BC006768,BC013439,BC015164,BC057828,BT007001,CR407670,CR593169,CR598873,CR612678,D28377,J03191,AC004771 ADU87632,NP_005013,EAW90381,EAW90382,EAW90383,EAW90384,BAG35102,AAH02475,AAH06768,AAH13439,AAH15164,AAH57828,AAP35647,CAG28598,BAA05743,AAA36486,P07737,Q53Y44,ABM82026,ABM85208 Hs.494691 profilin|profilin I|profilin-1 protein-coding 734176 PFN2 profilin 2 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq] 1580863 15383276,16169070,18573880,17382517,15615774,12391155,15489334,14517206,12677009,12477932,12224553,11027290,10945997,10882740,10600384,9463375,8975700,8641130,8365484,7758455,7737110,3356709,1602151,10958683 5217 NM_002628,NM_053024,AC117395,CH471052,AF228738,AK297915,AK307227,AK311780,AK311782,BC002964,BC018049,BC043646,BC095444,BX463350,CR591423,CR594372,CR596808,CR598518,CR598650,CR598653,CR600596,CR601974,CR606080,CR609496,CR615830,CR618131,CR619503,CR621836,CR625431,CR626138,L10678,AL096719 NP_444252,NP_002619,EAW78850,EAW78851,EAW78852,EAW78853,EAW78854,EAW78855,EAW78856,AAG24949,BAG60233,BAG34723,BAG34725,AAH18049,AAH43646,AAH95444,AAA03022,P35080,Q96EG4,ACE87707,ACE87020 Hs.91747 D3S1319E|PFL OTTHUMP00000216346|profilin II|profilin-2 protein-coding 1604471 PFN3 profilin 3 The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq] 19419568,15372022,12477932,11867228,20383146 345456 NM_001029886,AC145098,CH471195,AA909745,BC132952,BC132954 NP_001025057,EAW85006,AAI32953,AAI32955,P60673 Hs.130196 profilin III|profilin-3 protein-coding 1347216 PFN4 profilin family, member 4 1580863 19773279,19419568,15489334,12477932 375189 NM_199346,AC008073,CH471053,AK292601,BC029523,BC043236 NP_955378,AAY14666,EAX00760,EAX00761,BAF85290,AAH29523,Q53TL9,Q8NHR9 Hs.442718 profilin IV|profilin-4 protein-coding 1313632 PFTK1 PFTAIRE protein kinase 1 PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM] 1580863 16775625,17353931,17517622,9202329,19058789,17567994,15761153,12853948,12690205,12098780,11313143,10048485,12477932,18029348,19524571,19884882,20379614 5218 AC000057,AC000059,AC002065,AC002458,AC006036,AC017036,AC084381,CH236949,CH471091,AA883846,AB020641,AF119833,AK289782,AK295086,AK296406,AK297974,NM_012395,AK307484,AK316026,BC136476,BC136477,BC152388,BC152436,BC167152,BC167156,CR595517,DQ655962,DQ655963,DQ655965,DQ655966,DQ656060 NP_036527,AAS07411,AAM48566,AAS07412,AAF19245,EAL24162,EAW76872,EAW76873,EAW76874,BAA74857,AAG43234,BAF82471,BAG58127,BAG59071,BAG60284,BAH14397,AAI36477,AAI36478,AAI52389,AAI52437,AAI67152,AAI67156,O94921 Hs.258576 KIAA0834|PFTAIRE1|PFTK1 OTTHUMP00000196961|PFTAIRE protein kinase 1|cell division protein kinase 14|hPFTAIRE1|serine/threonine-protein kinase PFTAIRE-1 protein-coding 1314644 PFTK2 PFTAIRE protein kinase 2 1580863 17353931,16236519,15815621,15489334,14702039,12477932,12471243,11586298,19884882 65061 AC007358,CH471063,AB053308,AK091710,AK131512,AK292434,AK310050,BC038807,BX647394,NM_139158,AC007242 AAX93182,AAX88914,EAW70295,EAW70296,EAW70297,BAB69017,BAD18656,BAF85123,AAH38807,Q96Q40,ACE87269,ACE87270,ACE86586,ACE86587,NP_631897 Hs.348711 ALS2CR7|PFTK2 OTTHUMP00000206118|OTTHUMP00000209438|PFTAIRE protein kinase 2|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein|cell division protein kinase 15|serine/threonine-protein kinase ALS2CR7|serine/threonine-protein kinase PFTAIRE-2 protein-coding 1345189 PGA3 pepsinogen 3, group I (pepsinogen A) 1580863 6300126,8125298,19196398,18844222,17559360,15688378,14702039,9373149,12477932 643834 NM_001079807,AP000437,AK125628,AK225669,AK225674,AK225679,AK301286,AK301293,AK312941,AL832946,BC171815 NP_001073275,BAG54225,BAG62845,BAG62851,BAG35783,CAH56304,AAI71815,P00790,Q658W9,AAI60184 Hs.601055 DKFZp666J2410|PGA4|PGA5 pepsin A|pepsinogen A3 protein-coding 1606055 PGA4 pepsinogen 4, group I (pepsinogen A) 6300126,15489334,12477932,7663352,3197840,2714789,2515193,2415509 643847 NM_001079808,AP000437,AP003037,AK291864,BC150659,BC171808,BC171814,BC171910,BC171920,AK301305 NP_001073276,BAF84553,AAI50660,AAI71808,AAI71814,AAI71910,AAI71920,P00790,AAI52845,BAH13455 Hs.661883 FLJ58952|FLJ77962|PGA3|PGA5 pepsin A|pepsinogen A4 protein-coding 1350538 PGA5 pepsinogen 5, group I (pepsinogen A) 1580863 2515193,2415509,1906854,2609705,15489334,14702039,12477932,9421118,9373149,8187358,8125298,7663352,6300126,3467902,3305135,3197840,3191614,3115885,2920466,2797342,2714789 5222 AP003037,NM_014224,CH471076,J00287,M26032,M27596,M27598,BC029055,BC146999,BC171889,BC171897 P00790,NP_055039,EAW73928,AAA98529,AAA60061,AAA36432,AAA36431,AAH29055,AAI47000,AAI71889,AAI71897,O95576,O95577 Hs.432854 PGA3|PGA4 pepsin A|pepsinogen A5 protein-coding 1351408 PGA@ pepsinogen A gene cluster 5219 737211 PGAM1 phosphoglycerate mutase 1 (brain) 2302794,1300048,1580863 20471030,12189148,2846554,19405953,16881065,15710582,15592455,15489334,15388943,14702039,12477932,9373149,9150946,9110174,8619474,8125298,6282177,2846553,2822696,16169070,20847263,19686046,20403181,4811757 2302794 5223 AL355490,CH471066,AK223096,AK292216,AK293023,AK295991,AK296619,AK297491,NM_002629,CR592185,CR592499,CR594867,CR595299,CR595637,CR597136,CR597323,CR597429,CR599026,CR599158,CR599243,CR599699,CR600574,CR601107,CR602044,CR602385,CR602431,CR602792,CR603116,CR603605,CR603876,CR604266,AK312351,AK315910,AY007118,BC000455,BC010038,BC011678,BC053356,BC062302,BC066959,BC073742,BC157873,CR541659,CR541744,CR590098,CR591606,CR591607,CR605010,CR606204,CR607783,CR608122,CR608338,CR608546,CR608811,CR609033,CR609739,CR610451,CR610641,CR610924,CR611275,CR611305,CR611516,CR611819,CR612247,CR612302,CR612329,CR614156,CR614542,CR615624,CR615651,CR616167,CR616324,CR616452,CR616476,CR616975,CR618450,CR618982,CR619626,CR620365,CR620823,CR620897,CR621690,CR621854,CR622046,CR622446,CR623152,CR623531,CR626539,CR626703,J04173,HH770043,HH770385 NP_002620,CAI40778,EAW49937,EAW49938,EAW49939,EAW49940,EAW49941,EAW49942,EAW49943,EAW49944,BAD96816,BAF84905,BAF85712,BAG58766,BAG59227,BAG35272,BAH14281,AAG01990,AAH00455,AAH10038,AAH11678,AAH53356,AAH62302,AAH66959,AAH73742,AAI57874,CAG46460,CAG46544,BAG59909,AAA60071,P18669,Q0D2Q6,Q53G35,Q6FHK8,Q6FHU2,Q6P6D7,ABM83991,ABM87317,CBX85739,CBX85910 Hs.592599,Hs.632918 PGAM-B|PGAMA BPG-dependent PGAM 1|phosphoglycerate mutase 1|phosphoglycerate mutase A, nonmuscle form|phosphoglycerate mutase isozyme B protein-coding 68971 PGAM2 phosphoglycerate mutase 2 (muscle) 2302795,2302794,1599129,1300048,1580863 6262916,15489334,12477932,10545043,8447317,2822696,2549058,2153628,2145198,19615732 2302795,2302794,1599129 5224 NM_000290,AC017116,CH236960,CH471128,J05073,M55673,M55674,BC001904,BC073741,CR618504,HH770027,HH770391,M18172,CT002473,NG_013016 NP_000281,EAL23769,EAW61128,AAA60073,AAA64238,AAH01904,AAH73741,CBX85731,CBX85913,AAA60072,P15259 Hs.632642 GSD10|MGC88743|PGAM-M|PGAMM BPG-dependent PGAM 2|muscle-specific phosphoglycerate mutase|phosphoglycerate mutase 2|phosphoglycerate mutase isozyme M protein-coding 1345764 PGAM3P phosphoglycerate mutase 3, pseudogene 11961099 170535 NG_001047,AL109837 dJ1128N12.1 pseudo 1604671 PGAM4 phosphoglycerate mutase family member 4 10737800,9370262,16201836,11961099,16916647 441531 NM_001029891,AF465732,AF465733,AF465734,AF465735,AF465738,AF465739,AF465740,AF465741,AF465742,AF465731,AF465743,AF465745,AL772330,DQ120647,U76194,Z94801,BG875904,HH770395,NG_021360 NP_001025062,AAM27282,AAM27283,AAM27284,AAM27285,AAM27286,AAM27289,AAM27290,AAM27291,AAM27292,AAM27293,AAM27294,AAM27296,CAI42111,ABB92432,CAB08163,O00228,Q8N0Y7,AAI48677,CBX85915 Hs.632822 PGAM-B|PGAM1|PGAM3|dJ1000K24.1 phosphoglycerate mutase 4|phosphoglycerate mutase family 3|phosphoglycerate mutase processed protein|probable phosphoglycerate mutase 4 protein-coding 1604217 PGAM5 phosphoglycerate mutase family member 5 17046835,16169070,15324660,14702039,12477932,11283018,19590015,19596235,19615732,7584027 192111 NM_138575,AC135586,CH471218,AF357523,AK097688,BC008196,BC047906,EU249757,CA307621,CR995429,D25830,DR155760,NM_001170543,NM_001170544 NP_612642,EAW54825,EAW54826,EAW54827,AAK60627,AAH08196,ABX39494,Q96HS1,NP_001164014,NP_001164015 Hs.102558 BXLBV68|BXLBv68|MGC5352 Bcl-XL-binding protein v68|serine/threonine-protein phosphatase PGAM5, mitochondrial protein-coding 1605037 PGAP1 post-GPI attachment to proteins 1 PGAP1 catalyzes the inositol deacylation of glycosylphosphatidylinositol (GPI) at an early step in GPI biosynthesis. Inositol deacylation is essential for the generation of mature GPI capable of attachment to proteins (Tanaka et al., 2004 [PubMed 14734546]).[supplied by OMIM] 1846368,17711852,15815621,14702039,15489334,14734546,12975309,12477932,20379614 80055 NM_024989,AC012486,AC017035,AB128038,AK001646,AK022439,AK124764,AK309112,AK310484,AL050078,AY358624,BC040517,BX648642,AK302663 NP_079265,AAX88854,AAY15059,BAD13427,BAB14035,AAQ88987,CAH10543,Q75T13,AAI52720,BAG63898 Hs.229988 Bst1|FLJ42774|ISPD3024 GPI deacylase|GPI inositol-deacylase|OTTHUMP00000205622|hPGAP1|post-GPI attachment to proteins factor 1 protein-coding 733101 PGAP2 post-GPI attachment to proteins 2 10585768,16407401,16344560,12477932,7829101 27315 BI771208,CB988453,CR590396,DA287291,NM_001145438,NR_027015,NR_027017,NR_027018,NM_014489,NR_027016,AC090587,AF159621,CH471158,AF159615,AK130030,AK292181,AK295202,AK301991,AK307359,AL049261,AL096753,AY373030,BC009930,BI460657,BI497274,NR_027014,CR604431,CR605507,CR607759,CR608371,CR613312,CR618702,CR619655,CR622521,CR626434,CX872317 Q6ZP44,Q9UHJ9,NP_001138910,NP_055304,AAF19156,EAX02568,EAX02569,EAX02570,EAX02571,EAX02572,EAX02573,EAX02574,AAF12755,BAC85281,BAF84870,BAH12011,BAH13602,CAB46428,AAQ75733,AAH09930 Hs.133968 CWH43-N|FLJ26520|FRAG1|MGC799 FGF receptor activating protein 1|FGF receptor-activating protein 1|OTTHUMP00000014114|cell wall biogenesis 43 N-terminal homolog|post-GPI attachment to proteins factor 2 protein-coding 1352306 PGAP3 post-GPI attachment to proteins 3 12975309,12739007,12477932,17021251,12460457,19124506,17314402,17117180,16303743,15010812,19913121,20628086 93210 AC087491,CH471152,AB088396,AF217980,AK057911,AK075473,AK075474,AK289612,AK294639,AK301106,AK314469,AL833198,AY358437,BC010652,CR616643,NM_033419 NP_219487,EAW60589,EAW60590,EAW60591,EAW60592,EAW60593,EAW60594,BAC55580,AAG17223,BAC11642,BAF82301,BAG57818,BAG62705,AAQ88803,AAH10652,Q9HBS1,Q96FM1 Hs.462971 AGLA546|CAB2|MGC9753|PER1|PERLD1|PP1498 COS16 homolog|PER1-like domain-containing protein 1|gene coamplified with ERBB2 protein|hCOS16|per1-like domain containing 1|post-GPI attachment to proteins factor 3 protein-coding 1352422 PGBD1 piggyBac transposable element derived 1 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. [provided by RefSeq] 18029348,18830724,12477932,9373149,8889548,8125298,20873219,20534741,20673877,12955498,16344560 84547 D88259,NM_032507,AL021997,CH471081,AK223446,AK291228,BC019876,BC032507,BC040117,BC069033,BC128585,BQ185356,DA946293,NM_001184743 BAB46919,Q96JS3,NP_115896,CAD21704,EAX03151,BAD97166,BAF83917,AAH69033,AAI28586,NP_001171672 Hs.144527 HUCEP-4|SCAND4|dJ874C20.4 OTTHUMP00000016203|cerebral protein 4|cerebral protein-4|piggyBac transposable element-derived protein 1 protein-coding 1312360 PGBD2 piggyBac transposable element derived 2 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 12477932,11247672,12955498 267002 NM_170725,NM_001017434,AF229602,AL672183,CH471257,AI038307,AK123219,AK298248,BC063785,BX647065,CR623168 NP_733843,NP_001017434,CAI18711,CAI18712,EAW57543,EAW57544,EAW57545,BAG53880,BAG60513,AAH63785,CAE46192,Q6P3X8 Hs.602037 piggyBac transposable element-derived protein 2 protein-coding 1345759 PGBD3 piggyBac transposable element derived 3 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene overlaps with the ERCC6 gene on chromosome 10, and pseudogenes of this locus have been found on chromosomes 4, 5 and 12. [provided by RefSeq] 18369450,12477932,12955498,16385451,20379614 267004 NM_170753,AL138760,CH471187,CQ783578,AK074682,AK291018,AL133084,BC028954,BC034479,BC063690,BG121679 NP_736609,CAH70290,EAW93095,CAF86746,BAG51986,BAF83707,CAB61402,AAH28954,AAH34479,AAH63690,Q8N328,Q9UIW3 Hs.654449 FLJ90201 OTTHUMP00000019580|piggyBac transposable element-derived protein 3 protein-coding 1342943 PGBD3P1 piggyBac transposable element derived 3 pseudogene 1 267005 NG_002400,AC090017 pseudo 1345542 PGBD3P2 piggyBac transposable element derived 3 pseudogene 2 267006 NG_002401,AC010374 pseudo 1352420 PGBD3P3 piggyBac transposable element derived 3 pseudogene 3 267007 NG_002402,AC006065 pseudo 1343105 PGBD3P4 piggyBac transposable element derived 3 pseudogene 4 9847074 267008 NG_002403,AC114774 pseudo 1349164 PGBD4 piggyBac transposable element derived 4 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq] 12955498,14702039,12477932 161779 AC079203,CH471125,AK057200,AK094816,AK289491,BC130441,NM_152595 NP_689808,EAW92287,BAB71379,BAC04428,BAF82180,Q96DM1 Hs.156317 FLJ32638|FLJ37497 piggyBac transposable element-derived protein 4 protein-coding 1321950 PGBD5 piggyBac transposable element derived 5 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. [provided by RefSeq] 18951430,14702039,12955498,12477932 79605 NM_024554,AL691479,CH471098,AK021475,AK297321,AK315968,AL833243,BC013901,BC027466,BC036865,BC150638,CR597281 NP_078830,CAI13996,EAW69912,BAB13832,BAG59784,BAH14339,AAH13901,AAH27466,AAH36865,AAI50639,Q8N414,Q9HAL2 Hs.520463 DKFZp761A0620|FLJ11413 OTTHUMP00000035879|piggyBac transposable element-derived protein 5 protein-coding 735292 PGC progastricsin (pepsinogen C) 1580863 1280267,3335549,19624876,19173902,19132389,18844222,18447628,18256027,17559360,17288837,16937501,15688378,15503827,15489334,15200883,14574404,12759353,12698190,12508350,12477932,12128264,9794784,9421118,9406551,9373149,9267315,8876968,8322031,8125298,7714902,6816595,3305135,2909526,2567697,2515193,1906854,11915945,14578117,15479977,16842245,16995475,17567994,18200011,18416347,19230047,19731026,20379614,2612209,6794457 5225 NM_002630,AL365205,CH471081,M18659,M18660,M18661,M18662,M18663,M18664,M18665,M18666,M18667,M23077,AK223274,AK301298,AK301325,BC042578,BC073740,J04443,U75272,NM_001166424 NP_002621,CAI13181,CAI95135,EAX04059,AAA60062,AAA60063,BAG62855,BAG62874,AAH42578,AAH73740,AAA60074,AAB18273,P20142,Q8IUM8,NP_001159896 Hs.1867 FLJ99563|PEPC|PGII gastricsin|pepsin C|pepsinogen C|pepsinogen group II|preprogastricsin|progastricsin protein-coding 736012 PGCP plasma glutamate carboxypeptidase 20802479,10206990,16303743,12591738,12477932,20201926,20379614 10404 AC010859,AP003111,AP003112,AP003117,AP003477,CH471060,AF107833,AF107834,AF119386,AK075132,AK296013,AK304008,AK315447,BC012019,BC020689,CR599327,NM_016134 NP_057218,EAW91757,EAW91758,AAD43213,AAD43214,AAD31418,BAC11423,BAG58784,BAG64924,BAG37835,AAH20689,Q9Y646,ABM84103,ABM87758 Hs.156178 aminopeptidase|plasma glutamate carboxypeptidase protein-coding 1343939 PGD phosphogluconate dehydrogenase 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. [provided by RefSeq] 1625539,1599574,1580863 16169070,19615732,15231747,3858849,15489334,12498092,12477932,9920387,8978909,4517931,3932573,3864603,2283141,19913121,20628086,20676096 1625539,1599574 5226 AL139424,CH471130,AK290404,AK296889,AK298830,AK300952,AK303898,AK304423,BC000368,CD700605,CR604306,CR607764,CR608757,CR609478,CR610062,CR610133,CR610891,U30255,NM_002631 NP_002622,CAI95751,EAW71647,EAW71648,BAF83093,BAG59448,BAG60960,BAG62580,BAG64830,BAG65252,AAH00368,AAA75302,P52209 Hs.464071 6PGD 6-phosphogluconate dehydrogenase, decarboxylating 2289516,2289613 BW442_H,BW396_H protein-coding 1344429 PGDL1 phosphogluconate dehydrogenase-like 1 342705,5227 AC009831,NG_022489 PGDL1 pseudo 4744876 PGDP2 phosphogluconate dehydrogenase pseudogene 2 100129649 AC022507,NG_021727 pseudo 1347328 PGF placental growth factor 1580860,1642385,1642386,1642387,1642388,1642390,1642394,1642383,1642384,2298727,1580863 20335221,15938782,17593833,18192038,19508152,19602778,19657001,19845534,19956853,20027339,20040765,20043119,20097868,20137369,20149032,20351105,20452482,9467961,19505392,19293668,19180491,19165674,19135290,19022893,19010294,18945963,18927470,18615591,18566591,18421240,18411415,18306920,18293205,18264952,18175241,18160678,18079407,18006829,17982238,17956952,17704140,17696935,17187248,17157858,16864484,16843105,16839256,16635470,16146532,16005848,15886253,15710418,15516835,15489334,15272021,15126502,14741347,14684734,14645176,14568677,14568550,13678785,12824270,12808329,12796773,12714517,12673673,12618519,12548214,12548207,12543719,12508121,12477932,12453985,12393422,12091880,12086892,11986311,11811792,11810642,11297624,11069911,11000388,10919072,10783260,10748121,9452434,9207183,9116151,9111514,8786112,8148155,7929268,7681160,1924389,18258238,20133349,20301202,20451352,20509158,20673868,20921624,17981115,20371352,20515481,20500895 1580860,1642385,1642386,1642387,1642388,1642390,1642394,1642383,1642384,2298727 5228 AC006530,CH471061,EU332861,S57152,AK309886,AK310608,AK310886,BC001422,BC007255,BC007789,BT007182,BX248289,CR592863,CR593434,CR593571,CR598213,CR604743,CR611071,CR611238,CR612112,CR620888,CR621337,CR625775,CR626064,S72960,X54936,A18411,NM_002632 AAD30179,EAW81207,EAW81208,EAW81209,ABY87550,AAB25832,AAH01422,AAH07255,AAH07789,AAP35846,CAD62617,AAB30462,CAA38698,P49763,Q53XY6,Q86TW6,CAA01393,ABM83062,ABM86256,NP_002623 Hs.252820 D12S1900|PGFL|PLGF|PlGF-2|SHGC-10760 placenta growth factor|placental growth factor, vascular endothelial growth factor-related protein|placental growth factor-like protein-coding 1349691 PGFL placental growth factor-like 23611 734288 PGGT1B protein geranylgeranyltransferase type I, beta subunit 729477,1300048,1580863 19667218,20403997,20446922,8106351,16344560,15451670,14598891,12477932,11076863,7713879,1400319 729477 5229 NM_005023,AC008494,CH471086,AL520655,AW382606,AY780790,CR591401,DA024020 NP_005014,EAW48968,EAW48969,AAV98360,P53609,AAI11925,AAI18497 Hs.254006 BGGI|GGTI GGTase-I-beta|geranylgeranyl transferase type I subunit beta|geranylgeranyl transferase type-1 subunit beta|geranylgeranyltransferase type I beta subunit|geranylgeranyltransferase type i (ggtase-i)|type I protein geranyl-geranyltransferase subunit beta protein-coding 1353723 PGK1 phosphoglycerate kinase 1 The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. This gene lies on the X-chromosome, while a related pseudogene also has been found on the X-chromosome and another on chromosome 19. [provided by RefSeq] 2302859,2302860,2302795,1580863,1599120,1599123 19110265,18603805,18453750,18288812,18096512,18039033,17661373,17565005,17081983,16363799,16236267,15952740,15592455,15489334,15255553,15053920,14764427,14733918,12869554,12488440,12477932,12174867,12080078,11745195,9744480,9075577,9023984,8889548,8673469,8615693,8089148,8075252,8043870,7892275,7440217,7391028,7391027,6941312,6933565,6188151,6099325,3453121,2995995,2814502,2347494,2324090,2001457,1837552,1602151,1586722,1547346,1533225,20562859,17148452,18540639,19688824,19778949,19854185,20068185 2302859,2302860,2302795,1599120,1599123 5230 NM_000291,NG_008862,AL049589,CH471104,CS037197,L00159,M11968,M34017,AB062432,AK291081,AK295014,AK295182,AK298855,AK301632,AK301740,AK303848,AK310756,AK312280,AY423725,BC023234,BC103752,BC104837,BC113568,BU677171,CR456716,CR590085,CR590364,CR590879,CR591158,CR593737,CR595690,CR596685,CR596706,CR597247,CR598309,CR601290,CR601327,CR601871,CR604126,CR606362,CR606423,CR607408,CR609470,CR610216,CR611469,CR611546,CR611724,CR611898,CR612230,CR613425,CR614274,CR614584,CR615535,CR615930,CR616721,CR616934,CR617423,CR617618,CR617883,CR619469,CR619774,CR620229,CR620885,CR621547,CR621652,CR621871,CR622033,CR622489,CR622579,CR622615,CR623053,CR623282,CR623513,CR623619,CR624213,CR624591,CR625638,D28371,DC336483,L00160,V00572,HB957644,HD015054 NP_000282,CAI42951,EAW98602,EAW98603,EAW98604,CAI63840,AAA60078,AAA60079,AAA60103,BAB93495,BAF83770,BAG58074,BAG58187,BAG60978,BAG63115,BAH13545,BAG64791,BAG35209,AAS00488,AAH23234,AAI03753,AAI04838,AAI13569,CAG32997,BAA05737,CAA23835,P00558,CBG13427,CBV26941,ADR82990 Hs.78771 MGC117307|MGC142128|MGC8947|MIG10|PGKA PRP 2|cell migration-inducing gene 10 protein|phosphoglycerate kinase 1|primer recognition protein 2 protein-coding 1351767 PGK1P1 phosphoglycerate kinase 1, pseudogene 1 2987238,1840656,1549504 5231 K03201,X56251,NG_001170,AL158201 pseudo 1343838 PGK1P2 phosphoglycerate kinase 1, pseudogene 2 3502690,3016919,2995234 5233 NG_001528,AC010422 PGK2 pseudo 1315351 PGK2 phosphoglycerate kinase 2 The PGK2 gene encodes a testis-specific form of phosphoglycerate kinase (EC 2.7.2.3), which catalyzes the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate during glycolysis, generating one molecule of ATP. See also PGK1 (MIM 311800), which is ubiquitously expressed in all somatic tissues and maps to chromosome Xq13.[supplied by OMIM] 1580863 3453121,15489334,14574404,12477932,10330089,9023984,6873461,6328504,3839763,2987238,2886978,2032717,1278465,16344560,19333399,2027764,20459611,2156237,2767684,2813402 5232 NM_138733,AL121974,K03019,X05246,AK312770,BC038843,DB043284,HC007210,HC044715 NP_620061,CAC19655,CAA28872,BAG35635,AAH38843,P07205,CBH19410,CBH30687 Hs.367727 PGK-2|PGKB|PGKPS|dJ417L20.2 phosphoglycerate kinase 2|phosphoglycerate kinase autosomal pseudogene|phosphoglycerate kinase, testis specific protein-coding 1351013 PGL2 paraganglioma or familial glomus tumors 2 7814027 5235 1315936 PGLS 6-phosphogluconolactonase 2311501,1580863 10518023,16189514,15489334,12477932,11457850 2311501 25796 NM_012088,AC010618,CH471106,AF091091,AJ243972,BC014006,BC017706,BG764228 NP_036220,EAW84613,EAW84614,AAC72960,CAB57866,AAH14006,O95336,ABM84388,ABM87321 Hs.466165 6PGL 6-phosphogluconolactonase protein-coding 1351704 PGLYRP1 peptidoglycan recognition protein 1 1580863 12669421,12477932,9707603,11461926,19023966,18774573,18643845,15956276,15769462,15572450,15489334,15140887,15057824,14585845,14506276,12975309,17502600,19666596,19913121,20628086 8993 NM_005091,AC007785,CH471126,AF076483,AF242517,AY358936,BC096154,BC096155,BC096156,BC096157,BC101845,BC101847,DN998360 NP_005082,AAD38243,EAW57400,AAC31822,AAF99598,AAQ89295,AAH96154,AAH96155,AAH96156,AAH96157,AAI01846,AAI01848,O75594 Hs.137583 MGC126894|MGC126896|PGLYRP|PGRP|PGRP-S|PGRPS|TAG7|TNFSF3L TNF superfamily, member 3 (LTB)-like (peptidoglycan recognition protein)|peptidoglycan recognition protein 1 protein-coding 1346354 PGLYRP2 peptidoglycan recognition protein 2 Peptidoglycan recognition proteins, such as PGRPL, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM] 7663175,11461926,19023099,18649358,17975119,16344560,16335952,16239516,16054449,15340161,15340057,15221005,14702039,12975309,12754519,12669421,12477932,11752456,11441184,16714290,14506276,20237496 114770 NM_052890,AC011492,CH471106,AB073610,AF384856,AK055882,AK289415,AK292292,AY358156,BC136551,BC136552,BC144238,DB041324 NP_443122,EAW84482,EAW84483,BAD38647,AAL05629,BAB71034,BAF84981,AAQ88523,AAI36552,AAI36553,AAI44239,Q96PD5,BAF82104 Hs.282244 HMFT0141|PGLYRPL|PGRP-L|PGRPL|TAGL-like|tagL|tagL-alpha|tagl-beta N-acetylmuramoyl-L-alanine amidase|peptidoglycan recognition protein L|peptidoglycan recognition protein long|peptidoglycan recognition protein-like protein-coding 1312063 PGLYRP3 peptidoglycan recognition protein 3 Peptidoglycan recognition proteins, such as PGRPI-alpha, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM] 1580863 17207965,16362825,16354652,15489334,15140887,12477932,11461926,17502600,19601998,20237496 114771 NM_052891,AL161636,AL591704,CH471121,AY035376,BC069741,BC069798,BC069801,BC128114,BC128115 ADQ31968,NP_443123,CAI19556,CAI19491,EAW53338,AAK72484,AAH69741,AAH69798,AAH69801,AAI28115,AAI28116,Q96LB9 Hs.348266 MGC149197|PGRP-Ialpha|PGRPIA PGLYRPIalpha|PGRP-I-alpha|peptidoglycan recognition protein 3|peptidoglycan recognition protein I alpha|peptidoglycan recognition protein I-alpha|peptidoglycan recognition protein intermediate alpha|peptidoglycan recognition protein-I-alpha protein-coding 1318338 PGLYRP4 peptidoglycan recognition protein 4 Peptidoglycan recognition proteins, such as PGRPI-beta, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM] 1580863 17502600,20237496,20379614,11461926,16362825,16354652,15489334,12477932 57115 NM_020393,AL591704,CH471121,AF086392,AF242518,AK292203,AY035377,BC107157,BC107158,BC142636,CA487280 NP_065126,CAI19492,CAI19493,EAW53335,EAW53336,EAW53337,AAF99599,BAF84892,AAK72485,AAI07158,AAI07159,AAI42637,Q96LB8 Hs.58356 PGLYRPIbeta|PGRP-Ibeta|PGRPIB|SBBI67 PGRP-I-beta|peptidoglycan recognition protein 4|peptidoglycan recognition protein I beta|peptidoglycan recognition protein I-beta|peptidoglycan recognition protein intermediate beta|peptidoglycan recognition protein-I-beta protein-coding 734179 PGM1 phosphoglucomutase 1 Phosphoglucomutases (PGM; EC 5.4.2.2) catalyze the transfer of phosphate between the 1 and 6 positions of glucose. Isozymes of PGM are monomeric, with molecular masses of about 60 kD, and are encoded by several genes, including PGM1. In most cell types, PGM1 isozymes predominate, representing about 90% of total PGM activity. One exception is red cells, where PGM2 (MIM 172000) is a major isozyme (Putt et al., 1993 [PubMed 8257433]).[supplied by OMIM] 1300048,2304188,2299870,2299871,1580863 7902568,1530890,20562859,18495743,18091362,16710414,15522220,15489334,15378030,12942785,12608294,12477932,11963573,11785295,10441333,8894274,8631316,8586438,8257433,7902567,4517931,3159642,1602151,19377068,19430480,20378605,20379614,20800603 2304188,2299870,2299871 5236 AJ243265,AL109925,CH471059,S67989,S67998,AK293298,AK294186,AK298505,AK300100,AK312254,BC001756,NM_002633,BC019920,BC067763,BC090856,BT006961,CR594585,M83088,DC373587,NG_016966,NM_001172818,NM_001172819 NP_002624,CAC19809,CAB92085,CAB92086,EAX06559,EAX06560,AAB29177,AAB29178,BAG56819,BAG57502,BAG60712,BAH13208,BAG35186,AAH01756,AAH19920,AAH67763,AAH90856,AAP35607,AAA60080,P36871,Q16106,Q9H1D2,ABM92235,ABM84712,NP_001166289,NP_001166290 Hs.1869 GSD14 PGM 1|glucose phosphomutase 1|phosphoglucomutase-1 protein-coding 1314459 PGM2 phosphoglucomutase 2 2304188 7902568,17804405,15489334,15342556,14702039,12665801,12477932,11230166,9549096,9373149,8125298,5885461,1203483,1192820,885546,752512,752511,564278 2304188 55276 NM_018290,AC021106,AC108022,CH471069,AF109360,AI955714,AK001845,AK223237,AK297752,AK303374,AK310927,AL136705,BC010087,BP234074,CR457274,CR599913 NP_060760,AAY41017,EAW92886,AAQ13508,BAA91938,BAD96957,BAG60102,BAG64430,CAB66640,AAH10087,CAG33555,Q4W5D6,Q96G03 Hs.23363,Hs.607816 FLJ10983|MSTP006 PGM 2|glucose phosphomutase 2|phosphodeoxyribomutase|phosphoglucomutase-2 protein-coding 1316099 PGM2L1 phosphoglucomutase 2-like 1 737633 17804405,17081983,15489334,14702039,12477932,12107410,20800603 737633 283209 NM_173582,AP001085,CH471076,AB019210,AK056591,AK090777,AL134388,BC059360,BF038662,BX479504,CA391097,CA418308,CR606675 NP_775853,EAW74937,BAA82756,BAB71227,AAH59360,Q6PCE3 Hs.26612 BM32A|FLJ32029 PMMLP|glucose 1,6-bisphosphate synthase|glucose-1,6-bisphosphate synthase|phosphoglucomutase-2-like 1 protein-coding 1603410 PGM3 phosphoglucomutase 3 2299870,2304188,2299871,1625539 20800603,12752494,16344560,21159204,20221814,11004509,15489334,14702039,14574404,12477932,12174217,10721701,9373149,8125298,6461922,508567,468082,203189 2299870,2304188,2299871,1625539 5238 NM_015599,AL049699,AL121716,CH471051,AB032081,AF102265,AF180371,AK001365,AK023432,AK023709,AK225363,AK301867,AK314512,AL117443,BC001258,AK021676,AK023685,DB004046,DB033430,NM_001199917,NM_001199918,NM_001199919 NP_056414,CAI22635,CAI42427,EAW48667,EAW48668,EAW48669,EAW48670,EAW48671,BAB00613,AAC72409,AAD55097,BAG51190,BAB14652,BAG63306,BAG37112,CAB55928,AAH01258,O95394,NP_001186846,NP_001186847,NP_001186848 Hs.661665,Hs.708038 AGM1|DKFZp434B187|FLJ11614|FLJ13623|PAGM|PGM 3 N-acetylglucosamine-phosphate mutase|N-acetylglucosamine-phosphate mutase 1|OTTHUMP00000220839|OTTHUMP00000220840|OTTHUMP00000220841|PGM 3|acetylglucosamine phosphomutase|phosphoacetylglucosamine mutase|phosphoglucomutase-3 protein-coding 1346061 PGM5 phosphoglucomutase 5 Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM] 1580863 8631316,8175905,10867799,12477932,9342213,8586438,7890770,7589238 5239 NM_021965,AL161457,AL353608,AL353616,CH471089,L40933,AA709405,AI078570,AI374906,AK297108,AL137698,AL710966,BC033073 NP_068800,CAI16959,CAI41169,CAI41170,CAO03528,CAH71906,EAW62460,AAC41948,BAG59618,AAH33073,Q15124 Hs.307835 PGMRP PGM-RP|aciculin|phosphoglucomutase-like protein 5|phosphoglucomutase-related protein protein-coding 1604857 PGM5P1 phosphoglucomutase 5 pseudogene 1 15489334,15233989,15164053,14702039,12421752,9342213,8631316,8586438 653394 NG_005636,AL591385,X90859,Y13478 CAA73882 pseudo 1601896 PGM5P2 phosphoglucomutase 5 pseudogene 2 12421752,15233989,12477932 595135 NR_002836,AL353763,BX255923,BC007887,BC025351 Hs.571593 pseudo 1351096 PGP phosphoglycolate phosphatase 18640717,17038883,16344560,16160620,15661399,15260917,12477932,6273902,2164460,20091410 283871 NM_001042371,AC009065,CH471112,AK026146,AW161386,BC002330,BC035985,CR606733,CR607189,DA336356 NP_001035830,EAW85534,A6NDG6,AAI56306,AAI57036 Hs.442634 MGC4692 PGPase|phosphoglycolate phosphatase protein-coding 1348411 PGPEP1 pyroglutamyl-peptidase I Pyroglutamyl peptidase I (EC 3.4.19.3) catalyzes the hydrolysis of N-terminal pyroglutamyl residues from oligopeptides and proteins.[supplied by OMIM] 1580863 16344560,15380924,15014037,14702039,12651114,12477932,12030812,2575716,20889312,20379614 54858 NM_017712,AC008397,CH471106,AJ278828,AK000215,AK025948,AK289968,BC004942,BC028063,BC042138,DA315740 NP_060182,EAW84690,EAW84691,EAW84692,CAC03610,BAA91015,BAF82657,AAH28063,AAH42138,Q05C87,Q8IVT1,Q9NXJ5 Hs.131776 FLJ20208|MGC10812|PGP|PGP-I|PGPI|Pcp 5-oxoprolyl-peptidase|PAP-I|pyroglutamyl aminopeptidase I|pyroglutamyl-peptidase 1|pyrrolidone-carboxylate peptidase protein-coding 3052652 PGPEP1L pyroglutamyl-peptidase I-like 12477932,20379614 145814 AC036108,AC069029,AK058162,BC104743,BC104744,BC105686,NM_001102612,NM_001167902 A6NFU8,NP_001096082,NP_001161374 Hs.592021 pyroglutamyl-peptidase 1-like protein protein-coding 731081 PGR progesterone receptor This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce two isoforms, A and B. The two isoforms are identical except for the additional 165 amino acids found in the N-terminus of isoform A only, and mediate their own response genes and physiologic effects with little overlap. The location of transcription initiation for isoform B has not been clearly determined. [provided by RefSeq] 1601277,1642050,2289659,1601278,1580863 19499404,9598870,9305541,9115274,8671234,8626413,7989520,7983041,7481822,6849751,3551956,2736623,2328727,9710597,10903152,11689696,12874288,15019994,9620806,9223281,19673915,19657752,20228224,20097334,20484415,16484338,16740656,20400074,20436503,17021053,17018785,17006756,16999816,16985250,16973758,16920727,16901007,16799708,16772530,16762974,16759928,16647340,16646051,16614108,16537702,16524927,16481409,16478993,16477637,16439457,16384861,16360811,16339776,16339279,16331541,16323958,16244490,16168103,16126772,15996107,15937332,15866121,15863956,15807882,15798179,15797250,15743833,15728178,15718480,15698546,15694360,15694343,15654614,15632380,15613410,15607534,15601848,15598772,15579801,15572421,15563544,15562029,15555905,15535845,15509639,15381922,15330195,15282324,15272917,15272913,15219637,15184270,15171716,15102680,15084345,15084343,15036714,15001645,14978266,14769635,14764828,14684847,14667967,14667966,14634838,14617569,14586360,14557830,14551264,14519645,14500352,12943706,12899921,12861133,12771131,12759236,12748280,12699057,12673676,12672823,12650698,12644308,12612073,12594000,12579263,12556966,12554776,12554765,12538866,12529333,12517594,12466272,12446585,12414909,12402980,12297552,12218173,12174912,12149147,12114521,12113882,12101239,12090595,12088866,12048256,12039952,12038703,12021930,12021276,12011095,12010857,12009358,11948021,11918216,11821088,11717311,11677150,11668524,11668223,11545730,11326686,11323389,11117529,11117526,11110801,10819762,10757795,10750018,10684807,10480874,10338464,9891052,9671457,12917342,10840043,1557371,19527514,19497994,19476621,19436038,19423537,19419938,19415745,19383545,19382201,19336370,19330259,19309393,19284643,19267271,19258476,19220894,19211567,19208313,19208263,19196877,19175383,19154258,19152063,19147702,19147544,19124506,19106225,19095059,19094228,19093516,19064572,19061285,19056530,19031960,19019335,18980792,18850387,18835831,18819936,18818748,18801410,18798271,18776045,18722616,18691687,18686353,18681990,18676680,18665217,18645713,18636124,18631401,18628428,18617611,18557990,18511503,18510611,18508999,18483761,18483177,18481002,18421469,18392676,18391223,18386458,18384825,18378698,18375150,18321550,18316616,18313072,18281038,18276950,18249378,18219286,18215457,18197009,18189290,18184269,18096667,18048499,18042733,17992477,17965625,17958742,17951080,17950525,17919323,17914494,17896177,17885486,17847935,17845055,17805208,17785366,17727850,17717077,17646097,17609999,17609436,17599361,17592773,17522428,17512111,17484509,17413977,17347654,17316413,17293450,17277083,17259978,17224149,20550710,20713855,12650714,16352595,17291258,18029348,18394649,18629635,18668363,18683043,19170196,19205874,19205877,19217090,19296948,19299443,19339282,19367380,19372234,19389812,19423654,19458022,19462450,19551860,19555469,19574343,19574486,19604497,19625176,19636371,19676041,19692168,19696694,19701771,19706513,19715581,19720911,19739075,19762712,19782484,19809499,19835506,19838027,19846565,19852793,19887485,19940123,19940364,19952285,19952937,19961842,19996313,20000807,20019164,20026682,20063045,20076999,20082859,20082875,20087430,20087433,20090851,20123965,20124487,20148360,20299092,20305341,20308837,20379614,20381444,20404095,20453000,20547493,19820388,19913121,20586553,20628086,20634197,20646629,20719308,20814185,20661446,20690804,20873988,20392877,20096719,20592363,17081988,19609353,20140262,20716560,20734064,20956022,20959426,21085752,21086036 1601277,1642050,2289659,1601278 5241 NM_000926,AP001533,AY525610,CH471065,DQ234979,AB084248,AB085683,AB085843,AB085844,AB085845,AF016381,AK304853,AL137566,AY382151,AY382152,M15716,X51730,AY212933,NG_016475 NP_000917,AAS00096,EAW66997,EAW66998,EAW66999,EAW67000,EAW67001,EAW67002,ABB72139,BAB91074,BAC06585,BAC11011,BAC11012,BAC11013,AAD01587,BAG65592,AAO61671,AAQ96833,AAQ96834,AAA60081,CAA36018,P06401,Q6TZ07,Q6TZ08,Q8NG42,Q8NG43,Q8NG44,Q8NG45,Q8TDS3,AAI52915 Hs.32405 NR3C3|PR nuclear receptor subfamily 3 group C member 3|progesterone receptor protein-coding 733484 PGRMC1 progesterone receptor membrane component 1 Progesterone binding protein is a putative steroid membrane receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq] 1580863 19527514,19417032,19019335,18922159,18818748,18782852,18440126,18319313,18249431,17276356,17081983,16565220,16234411,15970648,15782218,15702432,15489334,15302935,14523988,12477932,11697142,18029348,18479732,17353931,9705155,12493773,20537145,17215244,19797399,20164297,20538600,20140262 10857 NM_006667,AC004835,AJ249131,CH471161,DQ496104,AK293618,AK313956,BC034238,CR456993,CR592834,CR600631,CR601548,CR603332,CR603656,CR604189,CR604895,CR604927,CR605672,CR607500,CR607904,CR608128,CR616034,CR619956,CR623275,CR625651,CR626493,CX762728,Y12711,NG_016756 NP_006658,CAB65109,EAW89879,EAW89880,EAW89881,EAW89882,ABF47093,BAH11549,BAG36672,AAH34238,CAG33274,CAA73248,O00264,Q6IB11,ABM82700,ABM85884 Hs.90061 HPR6.6|MPR membrane-associated progesterone receptor component 1|progesterone binding protein protein-coding 1318787 PGRMC2 progesterone receptor membrane component 2 1580863 9705155,19019335,18818748,17081983,15702432,15489334,14702039,12477932,16344560,19527514,8889548,20140262,20819778 10424 AC096898,CH471056,DQ496105,AJ002030,AK091741,AK094949,AK131272,BC016692,BC092478,CR596011,CR602377,CR603076,CR605848,CR608683,CR615672,NM_006320,DB046342,BM699362 NP_006311,EAX05178,EAX05179,EAX05180,EAX05181,EAX05182,ABF47094,CAA05152,BAC03737,AAH16692,AAH92478,O15173,Q8NB07,ABM84119,ABM84120,ABM84620,ABM87519,ABM87520,ABM87521,ABM87865 Hs.507910 DG6|PMBP membrane-associated progesterone receptor component 2|progesterone membrane binding protein|steroid receptor protein DG6 protein-coding 1347680 PGS Pettigrew X-linked mental retardation syndrome 1605216 5242 1606322 PGS1 phosphatidylglycerophosphate synthase 1 16169070,11256614,12477932,9880566,9373149,8125298,1538749,20877624 9489 AK024529,AK225030,AK296882,AK297156,AK307874,AK309890,AK316147,AK316405,AL359590,BC008903,BC015570,BC025951,BC035662,BC108732,CR594011,CR749720,NM_024419,AC061992,CH471099 EAW89525,BAB14921,BAG59443,BAG59655,BAH14518,BAH14776,CAB94876,AAH08903,AAH15570,AAH25951,AAH35662,AAI08733,CAH18487,Q32NB8,ABM83739,EAW89524,ABM87058,NP_077733 Hs.654671 DKFZp762M186|MGC131960 CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial|PGP synthase 1 protein-coding 1353173 PHACTR1 phosphatase and actin regulator 1 1303990,1580863 20379614,20738937,20971364,19198609,17903296,15489334,15107502,14702039,14574404,12477932,11214970 1303990 221692 NM_030948,AL008729,AL354680,AL391385,AL391837,AL591682,CH471087,Z99495,AB051520,AK090769,AK290017,AK295263,BC047159,BC101526,BC101528,BF026507,BQ434462 NP_112210,CAI95667,CAI95668,CAI95669,CAI95670,CAI95671,CAI95672,CAI41066,CAI41067,CAI40399,CAI40400,EAW55320,EAW55321,CAI20986,BAB21824,BAG52223,BAF82706,BAG58252,AAI01527,AAI01529,Q4VY15,Q9C0D0 Hs.436996 KIAA1733|MGC126575|MGC126577|RPEL|RPEL1|dJ257A7.2 OTTHUMP00000016040|OTTHUMP00000016044|RPEL repeat containing 1|phosphatase and actin regulator 1 protein-coding 1344472 PHACTR2 phosphatase and actin regulator 2 1303990,1580863 17474147,19429005,17113583,17081983,15146197,15107502,12477932,9734811,19913121,20628086,20379614,20546594 1303990 9749 NM_001100166,NM_001100164,NM_001100165,AL049844,AL078593,AL357117,AL360228,CH471051,AB014580,AK297799,AK298263,AK300221,BC150630,BC152416,CN361694,CR749345,DC361499,NM_014721,DC381966,DN993504,DR004592,DR980875 NP_055536,NP_001093636,NP_001093634,NP_001093635,CAI21446,CAI19811,CAI19812,CAI19813,CAI19814,CAI14132,CAI14133,CAI14154,CAI14155,EAW47861,EAW47862,EAW47863,BAA31655,BAG60138,BAG60527,BAG61989,AAI50631,AAI52417,CAH18198,O75167,Q5T3J5,Q5T4W4 Hs.102471 C6orf56|DKFZp686F18175|KIAA0680|MGC176642 OTTHUMP00000017336|phosphatase and actin regulator 2 protein-coding 1605886 PHACTR3 phosphatase and actin regulator 3 The protein encoded by this gene is associated with the nuclear scaffold in proliferating cells. It was found to bind to the catalytic subunit of protein phosphatase-1 (PP1) and inhibit PP1 activity, suggesting that this protein may function as a regulatory subunit of PP1. Alternative splicing at this locus results in several transcript variants encoding different isoforms. [provided by RefSeq] 19913121,20628086,19158953,16974080,15489334,15231748,15107502,14702039,12925532,12477932,11780052,16169070,19473719,20379614 116154 NM_001199505,NM_001199506,NM_080672,NM_183244,NM_183246,AL121908,AL357503,CH471077,AB098521,AB098522,AJ311122,AJ617581,AK090812,AK091632,AK098788,AK295459,AK314493,AK316047,BC036834,BC108303,BC117362,BC117364 NP_001186434,NP_001186435,NP_542403,NP_899067,NP_899069,CAI22517,CAI22518,CAI23227,CAI23228,CAI23229,CAM28339,CAM28340,EAW75428,EAW75429,EAW75430,BAC82348,BAC82349,CAC67489,CAF04087,BAG52395,BAH12075,BAG37093,BAH14418,AAI08304,AAI17363,AAI17365,Q96KR7,ADR83040 Hs.473218 C20orf101|H17739|MGC117178|SCAPIN1|SCAPININ OTTHUMP00000031426|phosphatase and actin regulator 3|phosphatase and actin regulator 3, isoform 1|scaffold-associated PP1 inhibiting protein|scaffold-associated PP1-inhibiting protein protein-coding 1351091 PHACTR4 phosphatase and actin regulator 4 This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1303990 16344560,15302935,15107502,14702039,12925532,12477932,11483580 1303990 65979 NM_001048183,NM_023923,AL670471,AL840643,CH471059,CR391992,CR589951,CR848752,AA973468,AF130081,AK023233,AK024663,AK025436,AL705720,BC016152,BC021247,BC029266,BC068508,CR749449,DA586663,HI574268,HI574270 NP_001041648,NP_076412,CAM12870,CAH73869,CAM12873,EAX07696,EAX07697,EAX07698,AAG35507,BAB14483,BAB15130,AAH21247,AAH29266,AAH68508,CAH18286,Q8IZ21,CBX47623,CBX47624 Hs.225641 DKFZp686L07205|FLJ13171|MGC20618|MGC34186|RP11-442N24__A.1 phosphatase and actin regulator 4 protein-coding 1346002 PHAX phosphorylated adaptor for RNA export 8125298,15130578,11333016,15574333,15574332,15489334,14702039,12477932,10786834,9373149,20430857,16687569 51808 NM_032177,AC099513,CH471086,AK023255,AK024065,AK225464,AK298497,BC021161,CR457305,CR614349,N44678,AF086448 NP_115553,EAW48850,BAB14489,BAB14809,BAG60704,AAH21161,CAG33586,Q9H814,ABM84139,ABM87541 Hs.555731,Hs.633012 FLJ13193|RNUXA RNA U small nuclear RNA export adapter protein|RNA U, small nuclear RNA export adapter (phosphorylation regulated)|RNA U, small nuclear RNA export adaptor (phosphorylation regulated)|phosphorylated adapter RNA export protein protein-coding 736948 PHB prohibitin Prohibitin is an evolutionarily conserved gene that is ubiquitously expressed. It is thought to be a negative regulator of cell proliferation and may be a tumor suppressor. Mutations in PHB have been linked to sporadic breast cancer. Prohibitin is expressed as two transcripts with varying lengths of 3' untranslated region. The longer transcript is present at higher levels in proliferating tissues and cells, suggesting that this longer 3' untranslated region may function as a trans-acting regulatory RNA. [provided by RefSeq] 2292398,2292409,2292405,2292382,2292403,2292404,2292408,2292406,2292396,2292410,2292402,1580863,2292407 20186755,11256614,16319068,18029348,19170196,19430483,19615732,19625176,19640993,19692168,19710421,19725029,19725052,19854158,19906925,20133800,20195544,19454010,11302691,14500729,12566959,12466959,16130169,15274632,19591124,19327358,19238206,19207009,19071013,19034380,18789835,18763282,18709484,18676680,18494604,18397521,18258228,18183577,18086671,17932104,17873902,17544200,17284347,17081983,17043753,17004108,16964284,16951178,16918502,16705168,16426920,16381901,16294014,16236267,16041367,15823758,15614618,15489336,15489334,15378209,15250827,15141164,14637159,14500355,12821355,12628297,12477932,12354477,12085232,12065415,11790298,11517187,11377649,11076863,10523633,10376528,9629920,9373149,8706794,8612677,8591812,8244394,8125298,7843414,7607556,1684951,1602151,1540973,20562859,20596663,19664078,20516557,20877624 2292398,2292409,2292405,2292382,2292403,2292404,2292408,2292406,2292396,2292410,2292402,2292407 5245 NG_023046,CS415664,AC091180,CH471109,L14272,U17179,U49725,AK223181,AK290766,AK302258,AK307767,AK312649,AY577780,BC013401,BC095460,BT007411,CR541706,CR590263,CR591049,CR599633,CR599787,CR600801,CR601626,CR617750,CR618484,CR619581,CR619685,CR621290,CR626185,CR626557,S85655,NM_002634 CAL48156,EAW94680,EAW94681,AAO18340,AAA86691,BAD96901,BAF83455,BAG63609,BAG35532,AAS88903,AAH13401,AAH95460,AAP36079,CAG46507,AAB21614,P35232,Q13022,NP_002625,Q53FV0,Q6FHP5,Q6PUJ7,CAL38496 Hs.514303 PHB1 OTTHUMP00000165765|OTTHUMP00000165766|OTTHUMP00000220103|OTTHUMP00000220170|OTTHUMP00000220171|prohibitin protein-coding 1604641 PHB2 prohibitin 2 11302691,19117054,18629613,18086671,17932104,17785450,17656096,17453341,17008324,16541075,15592455,15489334,15231747,15140878,12943695,12477932,10938099,10931946,9259555,9074930,8723724,17353931,10359819,15173318,19640993,19906925,20562859,20877624 11331 NM_001144831,NM_007273,CH471116,U47924,AF126021,AF150962,AF178980,AF279895,AK298217,AK301316,BC013228,BC014766,BC110322,CR593466,CR593674,CR595625,CR602122,CR603221,CR604561,CR612358,CR613611,CR617504,CR618054,CR620594,CR620908,CR624331,CR625390,U72511 NP_001138303,NP_009204,EAW88699,AAB51324,AAF17231,AAD38042,AAF44345,AAK07552,BAG60487,BAG62867,AAH14766,AAI10323,AAC51639,Q99623,Q9BXV3,ABM82734,ABW03427 Hs.504620 BAP|BCAP37|Bap37|MGC117268|PNAS-141|REA|p22 B-cell associated protein|B-cell receptor-associated protein BAP37|D-prohibitin|prohibitin-2|repressor of estrogen receptor activity protein-coding 1344857 PHBP1 prohibitin pseudogene 1 8244394 5246 NG_001171,AL355497,L14273 pseudo 4889300 PHBP10 prohibitin pseudogene 10 100418815 AL050401,NG_026746 pseudo 4889281 PHBP11 prohibitin pseudogene 11 644214 AC096542,NG_022754 pseudo 4889343 PHBP12 prohibitin pseudogene 12 100418820 AC091610,NG_027089 pseudo 4889298 PHBP13 prohibitin pseudogene 13 100418843 AL357083,NG_024915 pseudo 1343040 PHBP2 prohibitin pseudogene 2 8244394 5247 1351735 PHBP3 prohibitin pseudogene 3 8244394 5248 1349226 PHBP4 prohibitin pseudogene 4 8244394 5249 4889244 PHBP7 prohibitin pseudogene 7 548599 AL353743,NG_005066 pseudo 4889299 PHBP8 prohibitin pseudogene 8 100418804 AC069444,NG_025728 pseudo 4889273 PHBP9 prohibitin pseudogene 9 100289414 AADB02013266,ABBA01063229,AL138921 pseudo 1319414 PHC1 polyhomeotic homolog 1 (Drosophila) This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq] 1580863 15563468,9121482,18029348,18650381,15489334,15386022,15146197,12477932,12167701,10902910,9199346,16189514,10653359,12183370,9009205,14973489,16169070 1911 NM_004426,AB018192,AB018193,AC006581,CH471116,AB209063,AK293893,BC002871,BC017748,BC073964,BC157850,BM473731,BX640639,CN388283,CN388285,CN388316,U89277 NP_004417,BAA83727,EAW88600,EAW88601,BAD92300,BAG57282,AAH02871,AAH17748,AAH73964,AAI57851,CAE45787,AAC51169,P78364,Q59GP6,Q6GMQ3,Q6N083,Q9UQ30 Hs.305985 EDR1|HPH1|RAE28 Rae28-like|early development regulator 1 (homolog of polyhomeotic 1)|early development regulatory protein 1|polyhomeotic 1-like|polyhomeotic-like 1|polyhomeotic-like protein 1 protein-coding 2299189 PHC1B polyhomeotic homolog 1B (Drosophila) 653441 NG_009754,AC125816,XM_003120738,XM_003120742 XP_003120786,XP_003120790 pseudo 1317380 PHC2 polyhomeotic homolog 2 (Drosophila) In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15094067,14702039,12477932,12384788,12167701,10976766,9199346,9121482,15563468,15302935,16169070,16710414,16189514,15489334,15386022,16751658,16713569,20379614,20471960 1912 NM_198040,NM_004427,AL513327,CH471059,AJ242730,AJ419231,AK056429,AK128821,AK292905,AK294426,BC015450,BC018602,BC028396,BC029269,BC068573,BC092492,BC110863,BC130630,BC144121,CA949539,CD109667,CR597056,CR606655,CR608099,CR615775,U89278 NP_932157,NP_004418,CAI13955,CAI13956,CAI13957,EAX07457,EAX07458,EAX07459,EAX07460,EAX07461,EAX07462,CAB44779,CAD11673,BAG51706,BAC87622,BAF85594,BAG57672,AAH15450,AAH28396,AAH29269,AAH68573,AAH92492,AAI10864,AAI30631,AAI44122,AAC51170,P78365,Q8IXK0 Hs.524271 EDR2|HPH2|MGC163502|PH2 early development regulator 2 (homolog of polyhomeotic 2)|early development regulator 2-like|early development regulatory protein 2|polyhomeotic 2|polyhomeotic-like 2|polyhomeotic-like 2 (drosophila)|polyhomeotic-like protein 2 protein-coding 1317513 PHC3 polyhomeotic homolog 3 (Drosophila) 1580863 17081983,17001316,16565220,15489334,15342556,15302935,14702039,12477932,12384788,12167701,20491773 80012 NM_024947,AC008040,AC023891,CH471052,AF380154,AF444193,AI042019,AJ320486,AK022791,AK023029,AK300151,AK304411,BC022325,BC026001,BC070164,BC112944,BC131772,BC131773,BP200133,BX647868,EF560717 NP_079223,EAW78516,EAW78517,EAW78518,EAW78519,EAW78520,EAW78521,EAW78522,EAW78523,AAM46139,AAM51781,CAC86587,BAB14245,BAB14365,BAG61936,BAG65243,AAH22325,AAH70164,AAI31773,CAI46090,ABQ59027,Q8NDX5,ACE87823,ACT64381 Hs.529592,Hs.694467 DKFZp313K1221|EDR3|FLJ12729|FLJ12967|HPH3|MGC88144 OTTHUMP00000213462|OTTHUMP00000213464|OTTHUMP00000213468|early development regulator 3|early development regulatory protein 3|homolog of polyhomeotic 3|polyhomeotic like 3|polyhomeotic like 3 (drosophila)|polyhomeotic-like protein 3 protein-coding 733664 PHEX phosphate regulating endopeptidase homolog, X-linked The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. [provided by RefSeq] 1580863 20817730,19513579,20424473,9593714,9070861,7550339,19219621,18660670,18625346,18455459,18252791,18214537,18172553,18162710,18046499,17406123,16437029,16055933,15940367,15896324,15772651,15489334,15337762,15268897,15057978,12874285,12791601,12678920,12477932,11409890,11004247,10737991,10620182,10460513,10439971,10069185,9768674,9768646,9199999,9199930,9106524,9097956,9077527,8889548,2163973 5251 HI574100,NG_007563,CH471074,U73024,U81183,Y08111,Y10196,AD000712,AK298030,AK301528,AK304551,BC105057,BC105059,BU680665,U60475,U75645,U82970,U87284,NM_000444 CBX47539,P78562,NP_000435,EAW98987,AAD08630,AAB42219,CAA69326,CAA71258,AAB51604,BAG60332,BAG63030,BAG65346,AAI05058,AAI05060,AAC50552,AAB47749,AAC24487,AAB47562 Hs.495834 HPDR|HPDR1|HYP|HYP1|PEX|XLH X-linked hypophosphatemia protein|metalloendopeptidase homolog PEX|phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets)|phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)|phosphate regulating gene with homologies to endopeptidases on the x chromosome|phosphate-regulating neutral endopeptidase|vitamin D-resistant hypophosphatemic rickets protein protein-coding 1344150 PHF1 PHD finger protein 1 This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9545646,19204726,18722875,18385154,18285464,18086877,16344560,16189514,15489334,14574404,12477932,11571280,9373149,8889548,8125298,19851445 5252 NM_002636,NR_027692,AL021366,AL050332,AL662799,BX088650,CH471081,AF029678,AF052205,AK225913,AK295412,AK299162,AK316499,BC008834,CB242267,DA065298,DA872118,NM_024165 NP_077084,NP_002627,CAA16158,CAA16159,CAC38366,CAC38367,CAI18271,CAI18272,CAM26296,CAM26297,CAM26298,CAM26299,CAM26300,CAM26301,EAX03729,EAX03730,AAC52062,AAC13273,BAG58363,BAG61210,BAH14870,AAH08834,O43189,Q5SU08,ABM87418,ABW03882 Hs.166204 MTF2L2|PCL1|PHF2 PHD finger protein 1|hPCl1|polycomb-like protein 1 protein-coding 1313192 PHF10 PHD finger protein 10 This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. 20068294,17081983,16189514,15489334,15302935,14702039,14574404,12477932,11827455,9373149,9110174,8908511,8619474,8125298,16169070,20530714 55274 AK296349,NM_133325,NM_018288,AF338735,AL513547,CH471051,AJ420510,AK001837,AK222612,AL133094,BC020954,BC110323,CR457273,CR604749,DB460742 BAG59032,NP_579866,NP_060758,AAK27451,CAI12316,CAI12317,EAW47442,EAW47443,EAW47444,BAA91934,BAD96332,AAH20954,AAI10324,CAG33554,Q5T069,Q8WUB8,ABM82358,ABM85533 Hs.435933 BAF45A|FLJ10975|MGC111009|XAP135 BRG1-associated factor 45a|BRG1-associated factor, 45-KD, A|PHD finger protein 10|PHD finger protein 10, isoform a|PHD zinc finger protein XAP135 protein-coding 1354183 PHF10P1 PHD finger protein 10 pseudogene 1 11827455 158905 NG_005114,AF338734,AL356738 XAP135P pseudo 1321995 PHF11 PHD finger protein 11 1580863 19386584,19264973,19258923,19247692,19237393,18405956,17703412,17702965,16344560,15674390,15489334,12754510,12477932,10508479,9373149,8125298,20701904,20716621,19590686,19672052,19951440,19996348,20085599,20503287,20717939 51131 NM_001040443,NM_001040444,AL139321,CH471075,AB011031,AF155105,AK026228,AK225986,AK293242,AK300410,BC017212,BE621153,CR618983,DA652444,DB050568 NP_001035533,NP_001035534,CAH71044,CAH71045,CAH71046,EAX08827,EAX08828,BAA32101,AAD42871,BAG56776,BAG62140,AAH17212,Q5W0A5,Q9UIL8,ABM82884,ABM86074 Hs.369039 APY|BCAP|IGEL|IGER|IGHER|NY-REN-34|NYREN34|RP11-185C18.3 BRCA1 C-terminus-associated protein|IgE responsiveness (atopic)|NY-REN-34 antigen|OTTHUMP00000018416|OTTHUMP00000215009|OTTHUMP00000215010|PHD finger protein 11|renal carcinoma antigen NY-REN-34 protein-coding 1313935 PHF12 PHD finger protein 12 1580863 11390640,15489334,15302935,14702039,12477932,10819331,16565220,12391155,18029348 57649 NM_001033561,NM_020889,AC024267,CH471159,AB040956,AK024290,AK091441,AK160370,AK291420,AL161953,AY030283,BC001657,BC110882,BC121043,BC121044,AK294056 NP_001028733,NP_065940,EAW51164,EAW51165,EAW51166,EAW51167,BAA96047,BAB14875,BAD18713,BAF84109,AAK38349,AAH01657,AAI10883,AAI21044,AAI21045,Q0VAI6,Q2TAK2,Q96QT6,BAG57403 Hs.726646 FLJ34122|KIAA1523|MGC131914|PF1 PHD factor 1|PHD finger protein 12|PHD zinc finger transcription factor protein-coding 1317748 PHF13 PHD finger protein 13 1580863 16344560,15825179,15489334,14702039,12477932,17207965,19638409 148479 NM_153812,AL031447,CH471130,AB209544,AK027492,AK097715,AK315110,AL121733,AY069975,BC007931,BC032792,BC038516,BC048202,CR612215,CR618324,DB064673 NP_722519,CAI19471,EAW71561,BAD92781,BAG53519,BAG37568,CAB57324,AAL58478,AAH32792,AAH38516,Q59FB6,Q86YI8,ADQ32511 Hs.516079 MGC43399|PHF5|SPOC1 PHD finger protein 13|PHD zinc finger protein PHF5|survival time-associated PHD protein in ovarian cancer protein-coding 1349780 PHF14 PHD finger protein 14 1580863 11329013,16344560,17158748,17081983,16341674,15302935,14702039,12477932,9872452,9847074 9678 NM_014660,AC005007,AC007029,AC080064,AC104089,CH236948,CH471073,AA699404,AA837024,AB018326,AK123522,AK294419,AK295461,BC104657,BG182843,BG203538,DB359297,NR_033435,NR_033436,BC152414,BM741266,BM773384,BM834437,CR625297 NP_055475,EAW93633,EAW93634,EAW93635,EAW93636,BAA34503,BAG57668,BAG58394,AAI52415,O94880 Hs.655688 MGC176640 PHD finger protein 14 protein-coding 1319333 PHF15 PHD finger protein 15 1580863 16916647,15489334,14702039,14612400,12693554,12477932,9039502,20211142,21102462,20936779,16387653 23338 AC005355,AC106763,CH471062,AJ251833,AK025001,AK056471,AK074123,AK290471,AK292635,AK294327,BC004292,BC009307,BC021169,BC021962,BN000288,D87076,NM_015288 NP_056103,EAW62252,EAW62253,EAW62254,EAW62255,EAW62256,CAB94935,BAG51724,BAB84949,BAF83160,BAF85324,BAG57599,AAH04292,AAH09307,AAH21962,CAE30501,BAA13245,Q9BT87,Q9NQC1,ABZ92311 Hs.483419 JADE2|KIAA0239 OTTHUMP00000159387|OTTHUMP00000197617|protein Jade-2 protein-coding 1344107 PHF16 PHD finger protein 16 This gene is part of a gene cluster on chromosome Xp11.23. The encoded protein contains a zinc finger motif often found in transcriptional regulators, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1304513,1580863 16387653,18029348,17081983,16344560,15772651,15489334,15302935,14612400,12477932,11944989,10775800,9039502 1304513 9767 NG_013324,NM_001077445,NM_014735,AL627143,CH471164,Z83822,AF127774,AK291220,BC113880,BC114487,BN000289,D86969,DB063092 NP_001070913,NP_055550,EAW59277,EAW59278,CAI42541,AAD51905,BAF83909,AAI13881,AAI14488,CAE30502,BAA13205,Q92613 Hs.371977 JADE3|KIAA0215|MGC138748|MGC138749 protein Jade-3 protein-coding 1315809 PHF17 PHD finger protein 17 12169691,17081983,16713569,16387653,16046545,15815621,15502158,15489334,14702039,14612400,12477932,11347906,18029348,14973063,18684714,18806787,19187766 79960 NM_024900,AC093783,AC108024,CH471056,AB058710,AF520952,AK026132,AK027620,NM_199320,CR608541,DB451567,AK074986,AK127326,BC032376,BN000287,AK297357,AK304235,AK304815 NP_955352,NP_079176,AAY40997,EAX05170,EAX05171,EAX05172,EAX05173,EAX05174,EAX05175,EAX05176,BAB47436,AAM95612,BAB15371,CAE30500,Q6IE81,ABM82498,ABM85692,BAB55239,BAC11335,BAC86931,AAH32376,BAG59805,BAG65104,BAG65565 Hs.12420 FLJ22479|JADE1|KIAA1807 OTTHUMP00000219842|OTTHUMP00000219936|PHD protein Jade-1|gene for apoptosis and differentiation in epithelia|protein Jade-1 protein-coding 1321268 PHF19 PHD finger protein 19 16341674,15563832,14702039,12477932,17207965 26147 NM_015651,NM_001009936,AL161911,AL354792,CH471090,AA743545,AK122744,AK302996,AK303433,AL117477,BC022374,BC044224,BC108663,BC125076,BC125077,BM784790,BX640713,CR621777 NP_056466,NP_001009936,CAI95112,CAI15690,CAI15691,CAI15692,CAQ10217,EAW87475,EAW87476,EAW87477,EAW87478,BAG53700,BAH13873,BAH13959,CAB55950,AAH22374,AAI08664,AAI25077,AAI25078,CAE45832,Q5T6S3,ADQ32204 Hs.460124 MGC131698|MGC149712|MGC149713|MGC23929|MTF2L1|PCL3 OTTHUMP00000021999|OTTHUMP00000197611|PHD finger protein 19|hPCL3|polycomb like 3|polycomb-like 3|polycomb-like protein 3 protein-coding 1313130 PHF2 PHD finger protein 2 This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq] 18029348,20379614,10051327,18990233,12477932,12168954,9734811 5253 NM_005392,AL353629,AL359181,CH471089,AB014562,AF043725,AK294861,AL834263,BC028051,BC050112,BC064613,BC152437,BQ716020,BU507256,CB990295,CR622049 NP_005383,CAI96110,CAI96111,EAW62867,EAW62868,EAW62869,EAW62870,EAW62871,BAA31637,AAD21791,BAG57965,CAD38938,AAH28051,AAH64613,O75151,Q6P2C5,Q8N359,AAI72253,AAI72560 Hs.211441 GRC5|JHDM1E|KIAA0662|MGC176680 PHD finger protein 2|jumonji C domain-containing histone demethylase 1E protein-coding 1605683 PHF20 PHD finger protein 20 18478111,17081983,15906353,15489334,14702039,12800201,12477932,12097419,11780052,11703362,8889549,15960975,19473719 51230 AL078461,AL109965,AL356422,AL357374,CH471077,AF220416,AF258787,NM_016436,AF348207,AK054597,AK090798,AK097498,AK314503,AL137330,AL558423,AY027523,AY134747,BC006415,BC016948,BC022933,BC048210,BC062681,BC080598,BC093405,BC150178,BG778940,BM906582,BX643875,CD690482,CR626103,CR626433,L09749 NP_057520,CAI43144,CAI43145,CAI43146,CAI19246,CAI19247,EAW76153,EAW76154,EAW76155,EAW76156,EAW76157,EAW76158,AAF34184,AAG49888,AAK19748,BAG53476,BAG37103,AAK13046,AAN08621,AAH48210,AAH80598,AAH93405,AAI50179,Q566Q2,Q5JWZ0,Q5JXL1,Q66K49,Q7Z5E2,Q9BVI0 Hs.517044 C20orf104|FLJ33479|GLEA2|HCA58|NZF|TZP PHD finger protein 20|glioma-expressed antigen 2|hepatocellular carcinoma-associated antigen 58|novel zinc finger protein|transcription factor TZP protein-coding 1606010 PHF20L1 PHD finger protein 20-like 1 16344560,14702039,12477932,10810093 51105 NM_016018,NM_032205,NM_198513,AF228727,AF230666,CH471060,AF151830,AI913146,AK022280,AK023711,AK025268,AK057961,AK126085,AK290506,AL538135,AW014677,AY279109,BC002822,BC015211,BC036953,BC050655,BC056413,BC144654,BF243139,BQ006054,BU195139,BX641040,C15953,CD557358,CR623764,DA196349,DB498348 NP_057102,NP_115581,NP_940915,EAW92148,EAW92149,EAW92150,EAW92151,EAW92152,EAW92153,EAW92154,AAD34067,BAB14653,BAB15098,BAG54287,BAF83195,AAP33690,AAH15211,AAH50655,AAH56413,A8MW92,Q9H8G4,AAI56242,AAI57018 Hs.304362 CGI-72|MGC64923 OTTHUMP00000192872|OTTHUMP00000192874|OTTHUMP00000192876|OTTHUMP00000192877|PHD finger protein 20-like protein 1|tudor domain-containing protein PHF20L1 protein-coding 1354499 PHF21A PHD finger protein 21A BHC80 is a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM] 15325272,19439607,17394647,16140033,15489334,14702039,12493763,12477932,12032298,11214970,16189514,21102462,17643375,20379614 51317 NM_001101802,AC024475,AC068385,AC129913,CH471064,AB051483,AF208848,AK021530,AK023258,AL359593,AL359608,AY090777,NM_016621,BC015714,BX648236,CB266669,CR624589 NP_057705,NP_001095272,EAW68012,EAW68013,EAW68014,EAW68015,EAW68016,EAW68017,EAW68018,BAB21787,AAF64262,BAB13839,BAB14492,AAM09095,AAH15714,CAH10542,Q96BD5,ABZ92334 Hs.502458 BHC80|BM-006|KIAA1696 BHC80a|BRAF35-HDAC complex protein BHC80|BRAF35/HDAC2 complex (80 kDa)|PHD finger protein 21A protein-coding 1344183 PHF21B PHD finger protein 21B 737633 15489334,15461802,14702039,12477932,10591208,20379614 737633 112885 NM_138415,NM_001135862,AL049760,AL079301,CH471138,Z83838,AK091480,AK092243,AK095777,AK297317,AK299836,BC012187,CR456448,CR615765 NP_612424,NP_001129334,CAQ06723,CAQ06724,EAW73365,EAW73366,EAW73367,CAQ07744,CAQ07745,CAQ07749,BAG52373,BAG52506,BAG53127,BAH12544,BAH13143,AAH12187,CAG30334,Q96EK2,CAK54430,CAK54729 Hs.254097 BHC80L|FLJ34161|PHF4 OTTHUMP00000199356|OTTHUMP00000199357|PHD finger protein 21B|PHD finger protein 4 protein-coding 1601853 PHF23 PHD finger protein 23 16344560,14702039,12477932,16169070,17207965 79142 NM_024297,AC120057,CH471108,CQ783657,AI129084,AK026537,AK074766,AK122791,AK122901,AK297040,AY099328,BC002509,BC008630,CR607447,CR619972,CR625963,DA131173,EF071959 NP_077273,EAW90240,EAW90241,EAW90242,EAW90243,CAF86797,BAB15498,BAC11192,BAG53790,BAG59568,AAM44129,AAH02509,AAH08630,ABK59097,Q9BUL5,ADQ31739 Hs.644724 FLJ16355|FLJ22884|MGC2941|hJUNE-1b PDH-containing protein JUNE-1|PHD finger protein 23|PHD finger protein 23a protein-coding 4109982 PHF2P1 PHD finger protein 2 pseudogene 1 266695 AL137001,AL832753,NR_002801 Hs.614937 DKFZp686A1627 pseudo 1312646 PHF3 PHD finger protein 3 1580863 12168954,11856869,17081983,16964243,15906353,15489334,15345747,15302935,14702039,14574404,12477932,11464277,9039502 23469 NM_015153,AL050329,AL445676,CH471143,AF091622,AK025283,AK055678,AK290491,AK298580,AK307869,AK315868,BC040583,BC113650,BC113652,BX648268,D87685 NP_055968,CAM45842,CAI16104,EAW88496,AAF21292,BAG51553,BAF83180,BAG60771,BAF98759,AAI13651,AAI13653,CAI56715,BAA13438,Q92576 Hs.348921 KIAA0244|MGC142210|MGC142212 OTTHUMP00000016677|OTTHUMP00000217901|OTTHUMP00000217902|PHD finger protein 3 protein-coding 1348069 PHF4 PHD finger protein 4 50609 1348043 PHF5A PHD finger protein 5A This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. 12226669,12234937,15489334,15461802,12477932,12054543,10591208,15146077,18076038 84844 NM_032758,AL008582,CH471095,BC007321,BC075808,BK000563,BU584712,CR456398,CR594092,CR617199 NP_116147,CAB62939,EAW60433,EAW60434,AAH07321,AAH75808,DAA00074,CAG30284,Q7RTV0,CAK54387,CAK54686,ABZ92207 Hs.474980,Hs.707800 INI|MGC1346|Rds3|SAP14b|SF3b14b|bK223H9.2 PHD finger-like domain protein 5A|PHD finger-like domain-containing protein 5A|PHD-finger 5a|splicing factor 3B associated 14 kDa protein|splicing factor 3B-associated 14 kDa protein protein-coding 1605766 PHF5CP PHD finger protein 5C pseudogene 12054543 450232 NG_004711,AC011448 PHF5AP1 pseudo 1605764 PHF5DP PHD finger protein 5D pseudogene 12054543 450238 NG_005422,AC026348 pseudo 1605763 PHF5EP PHD finger protein 5E pseudogene 12054543 450239 NG_005423,AC139451 pseudo 1605762 PHF5FP PHD finger protein 5F pseudogene 12054543 450246 NG_005424,AC005000 pseudo 1605765 PHF5GP PHD finger protein 5G pseudogene 12054543 450234 NG_005421,AC067940 pseudo 1605761 PHF5HP PHD finger protein 5H pseudogene 12054543 450250 NG_005425,AC015712 pseudo 1354174 PHF6 PHD finger protein 6 This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 18029348,17081983,15994862,15772651,15635413,15489334,15466013,15241480,14756673,14714754,14714741,12676923,12477932,12415272,11347906,17207965,19264739,20228800,20806366 84295 NM_032458,NM_001015877,NM_032335,NG_008886,AC004383,AL591668,CH471107,AB058726,AK290095,AK303369,AK303647,AL832725,AW297001,AY157622,BC005994,BG122271,CD685336,CF242973,DR000282 NP_115834,NP_001015877,NP_115711,CAI41600,CAI41601,CAI41602,EAX11762,EAX11763,EAX11764,EAX11765,EAX11766,BAB47452,BAF82784,BAG64426,BAG64650,AAO13214,AAH05994,Q8IWS0,ADQ32682 Hs.356501 BORJ|MGC14797 OTTHUMP00000024063|PHD finger protein 6|PHD-like zinc finger protein protein-coding 1318527 PHF7 PHD finger protein 7 Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. In the testis, this gene is expressed in Sertoli cells but not germ cells. However, this gene is not expressed in a patient who exhibited spermatogenic arrest at the spermatocyte stage. Spermatogenic arrest is an interruption of germ cell differentiation that may result in oligospermia or azoospermia. The proteins encoded by this gene contain plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. Thus this protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Two protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 1580863 15489334,12477932,11829468,11042152,9373149,8125298,7701562,20098747 51533 NM_016483,NM_173341,AC006208,AC092045,CH471055,AF151060,AK223531,AK292221,AL137671,AY014283,BC022002,BG704704,HC007212 NP_057567,NP_775463,EAW65222,EAW65223,EAW65224,AAF36146,BAD97251,BAF84910,CAB70867,AAK27308,AAH22002,Q53EV8,Q9BWX1,Q9NS08,Q9NSX7,ABM81823,ABM84977,CBH19411 Hs.372719 DKFZp434L1850|HSPC045|HSPC226|MGC26088|NYD-SP6 OTTHUMP00000212993|PHD finger protein 7|testis development protein NYD-SP6 protein-coding 1347460 PHF8 PHD finger protein 8 1580863 20622853,20622854,15302935,14702039,12477932,12168954,10470851,10398231,15489334,18498374,17661819,17081983,16199551,15772651,16344560,17643375,19843542,20067792,20101266,20208542,20346720,20421419,20531378,20548336,19394292,21057379 23133 Z98051,AB029034,AF091081,AK021696,AK022788,AK027229,AK304272,BC017720,BC042108,BC053861,BE676640,CR595374,CR626598,CR933612,DA458639,DB079048,NG_021309,NM_001184896,NM_001184897,NM_001184898,NM_015107,AL589872,AL732374 CAI41579,CAI41581,CAI41582,CAI42860,CAI42861,CAI42863,CAQ08298,CAQ08299,CAQ08300,CAQ08301,CAQ08302,BAA83063,AAC72950,BAB13877,BAG51116,BAH14147,AAH53861,CAI45929,O95327,Q9UPP1,CAQ06655,CAQ06656,CAQ06657,CAQ06658,CAQ06659,CAQ10339,NP_001171825,NP_001171826,NP_001171827,NP_055922,CAH70724,CAI41576,CAI41577,CAI41578 Hs.726110 DKFZp686E0868|JHDM1F|KIAA1111|MRXSSD|ZNF422 OTTHUMP00000023363|OTTHUMP00000023366|OTTHUMP00000023367|histone lysine demethylase PHF8|jumonji C domain-containing histone demethylase 1F protein-coding 737224 PHGDH phosphoglycerate dehydrogenase 3-Phosphoglycerate dehydrogenase (PHGDH; EC 1.1.1.95) catalyzes the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the first and rate-limiting step in the phosphorylated pathway of serine biosynthesis, using NAD+/NADH as a cofactor.[supplied by OMIM] 1580863,1600412,1300048 8758134,19404161,19388702,19223009,18627175,16730941,16710414,16344560,16236267,15489334,14702039,12477932,11751922,11055895,11034457,10894924,10713460,17643375,19235232,19778996,19497206 1600412 26227 NG_009188,AF208732,AF208733,AF208734,AF208735,AF208736,AL139251,AL589734,NM_006623,CH471122,AF171235,AF171236,AF171237,AI685723,AK093306,AK129762,AK309662,AK310132,AK315360,BC000303,BC001349,BC011262,BC023235,BC032110,CR456795,CR592544,CR595107,CR600485,CR611188,CR612347,CR616251,CR617402,CR619716,CR622574,DA731339 NP_006614,AAK60573,AAK60574,AAK60575,AAK60576,AAK60577,CAI22212,CAI22213,CAI22407,CAI22409,EAW56707,EAW56708,AAD51413,AAD51414,AAD51415,BAG52685,BAG37755,AAH00303,AAH01349,AAH11262,AAH32110,CAG33076,O43175,Q5SZU1,Q8N5M8,Q96RV5,Q96RV6,Q96RV7,Q96RV8,Q96RV9,Q9UMY2,Q9UMY3,ABM82999,ABW03347 Hs.487296 3-PGDH|3PGDH|MGC3017|PDG|PGAD|PGD|PGDH|SERA 3-phosphoglycerate dehydrogenase|D-3-phosphoglycerate dehydrogenase protein-coding 3398935 PHGR1 proline/histidine/glycine-rich 1 12477932,16341674 644844 AC013356,BC052373,BC061640,BC070498,BC109367,BM854696,NM_001145643 C9JFL3,NP_001139115 Hs.447537 proline, histidine and glycine-rich protein 1|proline/histidine/glycine-rich 1 protein-coding 1345138 PHIP pleckstrin homology domain interacting protein PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000 [PubMed 11018022]; Podcheko et al., 2007 [PubMed 17636024]).[supplied by OMIM] 11018022,17636024,16344560,15009096,14702039,12477932,16169070,16949367,16964240 55023 NM_017934,AL356776,AL450327,CH471051,AF310250,AJ303102,AK000712,AK057039,AK075124,AK127816,AL049321,AL161957,BC008909,BC021905,BC036479,BC064611,BC081569,BC137488,BC144670,BI548935,BX537762,CR600369,DA500781,DQ924532 NP_060404,CAH70884,EAW48717,EAW48718,EAW48719,AAG45145,CAC83118,BAA91336,BAB71353,BAC11417,CAH10776,AAH08909,AAH21905,AAH81569,AAI37489,ABK76299,Q8WWQ0,Q9NWP3,CAI14406 Hs.511817,Hs.606356 DCAF14|FLJ20705|FLJ45918|MGC90216|WDR11|ndrp DDB1 and CUL4 associated factor 14|IRS-1 PH domain-binding protein|PH-interacting protein|WD repeat-containing protein 11 protein-coding 733215 PHKA1 phosphorylase kinase, alpha 1 (muscle) The PHKA1 gene encodes the alpha subunit of muscle phosphorylase kinase (EC 2.7.1.38), a key regulatory enzyme of glycogen metabolism. Phosphorylase kinase consists of 4 copies of an alpha-beta-gamma-delta tetramer. The alpha, beta (PHKB; MIM 172490), and gamma (PHKG1; MIM 172470 and PHKG2; MIM 172471) subunits have several isoforms; the delta subunit is calmodulin (CALM1; MIM 114180). PHKA2 (MIM 306000) encodes the alpha subunit of liver-specific phosphorylase kinase and is also located on the X chromosome.[supplied by OMIM] 2305981,1599897,70269,1599893,1580863 8226841,7874115,18029348,18401027,15489334,12876330,12825073,12477932,10487978,2757032,2108025,1872871,16344560,20080404,7705849 2305981,1599897,1599893 5255 DA171597,DA998603,NG_016599,NM_001172436,X73878,X73874,NM_001122670,NM_002637,BX295541,BX295542,CH471213,AK123357,AW450116,BC104944,BC143499,BC143501,BJ998054,BX647542,DR002787 CAA52083,P46020,NP_001165907,NP_001116142,NP_002628,EAW71825,EAW71826,AAI04945,AAI43500,AAI43502 Hs.201379 MGC132604|PHKA phosphorylase b kinase alpha subunit|phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform|phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform|phosphorylase kinase alpha M subunit|phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis protein-coding 2293162 PHKA1P1 phosphorylase kinase, alpha 1 pseudogene 1 12825073,11181995 646780 NG_007661,AC091614,CH471097 EAW73119 pseudo 1344785 PHKA2 phosphorylase kinase, alpha 2 (liver) 2305981,1601388,1580863 8733133,7549948,18950708,17581768,16565220,15851553,15772651,15489334,15231748,14702039,14684825,12876330,12862311,12477932,10330341,9835437,9600238,8733134,8226841,7847371,7711737,5306139,2387090,2303074,1505214,1372435,1872871,12620389,8518797,17689125 2305981,1601388 5256 NM_000292,AF044572,AL096700,AL732509,CH471074,Y15154,AK056812,AK092480,AK289996,AY429559,AY429560,AY429562,AY429563,BC014036,BC114375,CD722555,CR596323,D38616,DB458123,W63591,X73875,X80497,AF044571,AY429561,NG_016622 NP_000283,AAD32846,CAB86408,CAI41680,EAW98951,CAA75421,BAF82685,AAH14036,BAA07606,CAA52084,CAA56662,P46019,ABM84603,ABM86486 Hs.54941 GSD9A|MGC133071|PHK|PYK|PYKL|XLG|XLG2 phosphorylase b kinase regulatory subunit alpha liver isoform|phosphorylase b kinase regulatory subunit alpha, liver isoform|phosphorylase kinase alpha L subunit|phosphorylase kinase alpha-subunit protein-coding 1343205 PHKB phosphorylase kinase, beta 2305981,1580863 17689125,20379614,9402963,16189514,15489334,12876330,12825073,12477932,10487978,9533876,9326319,9215682,8681948,2757032,1872871 2305981 5257 NM_000293,NM_001031835,AC007599,AC092374,CH471092,X84909,Y15155,AK123692,AK293122,AK309226,BC033657,CR936710,X84908,NG_016598 NP_000284,NP_001027005,EAW82700,EAW82701,CAA59333,CAA75422,BAG53937,BAG56674,AAH33657,CAA59332,Q6LAJ4,Q93100,ABM82280 Hs.78060 DKFZp781E15103|FLJ41698 phosphorylase b kinase regulatory subunit beta|phosphorylase kinase beta-subunit|phosphorylase kinase subunit beta protein-coding 1342879 PHKBP1 phosphorylase kinase, beta pseudogene 1 8681948 5258 AL050323,NG_024957,NG_001172,AL021396,X85225 pseudo 1348085 PHKBP2 phosphorylase kinase, beta pseudogene 2 8681948 5259 NG_001173,AL132857,X85226 pseudo 731844 PHKG1 phosphorylase kinase, gamma 1 (muscle) This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. [provided by RefSeq] 2305981,1580863 2297530,16344560,15489334,12853948,12825073,12665801,12387894,12477932,10737616,10090741,9832145,9771888,9735171,9362479,8999860,8672716,8530014,7935360,7929096,7874115,7706316,2507540,2365696 2305981 5260 NM_006213,AC092101,AF254253,CH471140,AK293180,AK299429,AK300928,AK309503,AK312851,BC051327,BC069655,BC069679,BC069738,BC069754,BC074753,DB171823,X80590,AF254250,AF254251,AF254252 NP_006204,AAS07453,AAL36972,EAX07987,EAX07989,BAH11466,BAH13029,BAH13378,BAG35704,AAH51327,AAH69655,AAH69679,AAH69738,AAH69754,AAH74753,CAA56681,Q16816,Q6NSZ4,Q75LP5 Hs.727681 PHKG phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform|phosphorylase kinase gamma|phosphorylase kinase subunit gamma-1 protein-coding 2292063 PHKG1P1 phosphorylase kinase, gamma 1 pseudogene 1 12825073 643941 NG_005544,AC006455 pseudo 2291789 PHKG1P2 phosphorylase kinase, gamma 1 pseudogene 2 12825073 644032 NG_005545,AC006457 pseudo 1345002 PHKG1P3 phosphorylase kinase, gamma 1 pseudogene 3 12825073 5262 NG_005543,AC109635 PHKGL|PHKg1ps2 pseudo 2306326 PHKG1P4 phosphorylase kinase, gamma 1 pseudogene 4 9847074 100151641 NG_007655,AC122133 pseudo 732798 PHKG2 phosphorylase kinase, gamma 2 (testis) 2305981,1580863,737725,737724 8889548,8020963,2948189,8896567,17689125,15489334,14702039,12930917,12477932,10905889,9384616,9362479,7935363,6962066,2915644 2305981,737725,737724 5261 CA449954,NG_016616,NM_001172432,NM_000294,AC106886,CH471192,Y11950,Y11951,AB209055,AK055943,AK289492,AK293551,BC002541,BC036735,CR593394,CR596608,CR598568,CR605407,CR606272,CR613291,CR618759,CR621603,M14503,M31606,S73483 NP_001165903,NP_000285,EAW52208,EAW52209,EAW52210,EAW52211,CAA72694,BAD92292,BAF82181,BAG57028,AAH02541,AAA36518,AAA36442,AAD14119,P15735,Q16221,Q59GQ4,ABM83108,ABW03492 Hs.65735 GSD9C PHK-gamma-T|PSK-C3|Phosphorylase kinase, gamma 2 (testis/liver)|phosphorylase b kinase gamma catalytic chain, testis/liver isoform|phosphorylase kinase subunit gamma-2 protein-coding 733133 PHLDA1 pleckstrin homology-like domain, family A, member 1 This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq] 11369516,18641796,17870236,17211533,15489334,15315823,15037619,15002043,12738777,12477932,12384558,10894922,9417904,16189514,18029348,17024176,19060904 22822 NM_007350,AC011611,AF239986,CH471054,AF220656,AK026181,AK304224,BC017756,BC018929,BC037430,BC039558,BC047362,BC065825,BC110820,BC126425,BC130427,CR603389,CR607629,U92983,Z50194,DR002699 NP_031376,AAF64165,EAW97312,EAW97313,AAF36387,BAG65096,AAH18929,AAI10821,AAI26426,AAI30428,CAA90576,Q8WV24 Hs.602085 DT1P1B11|MGC131738|PHRIP|TDAG51 PQ-rich protein|PQR protein|T-cell death-associated gene 51 protein|apoptosis-associated nuclear protein|pleckstrin homology-like domain family A member 1|proline- and glutamine-rich protein|proline- and histidine-rich protein|proline-histidine rich protein|t-cell death associated gene protein-coding 1312382 PHLDA2 pleckstrin homology-like domain, family A, member 2 This gene is one of several genes in the imprinted gene domain of 11p15.5 which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Studies of the mouse gene, however, which is also located in an imprinted gene domain, have shown that the product of this gene regulates placental growth. [provided by RefSeq] 8125298,9328465,17388661,17303335,17180344,16964243,16584773,15952111,15489334,13129680,12477932,12374806,12032310,10749982,10594239,10197590,9520460,9500470,9403053,9373149,20201924,17207965,20705733 7262 NM_003311,NG_009266,AC013791,CH471158,AF001294,AF019953,AF035444,AI659266,AK223027,BC005034,CR407664 NP_003302,EAX02531,AAB86680,AAC51912,AAC17458,BAD96747,AAH05034,CAG28592,Q53GA4,ADQ32809 Hs.154036 BRW1C|BWR1C|HLDA2|IPL|TSSC3 beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein|imprinted in placenta and liver protein|p17-BWR1C|p17-Beckwith-Wiedemann region 1 C|p17-Beckwith-Wiedemann region 1C|pleckstrin homology-like domain family A member 2|tumor suppressing subchromosomal transferable fragment cDNA 3|tumor suppressing subtransferable candidate 3|tumor-suppressing STF cDNA 3 protein|tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein|tumor-supressing STF cDNA 3 protein-coding 1321441 PHLDA3 pleckstrin homology-like domain, family A, member 3 17353931,19203586,10594239,15489334,14702039,12477932,9373149,8125298,18029348 23612 NM_012396,AC096677,CH471067,AF151100,AK075179,AK222644,AK312115,BC014390,BC068273,CR592160,CR605205,CR607788,CR608565,CR622274 NP_036528,EAW91369,AAD42081,BAC11454,BAD96364,BAG35051,AAH14390,AAH68273,Q9Y5J5 Hs.268557 TIH1 OTTHUMP00000033920|TDAG51/Ipl homolog 1|pleckstrin homology-like domain family A member 3|pleckstrin homology-like domain, family A, member 2 protein-coding 1354110 PHLDB1 pleckstrin homology-like domain, family B, member 1 17081983,15491607,15489334,14702039,14532993,12477932,12168954,11001876,9734811,19578367,20462933,20513769,20847058 23187 AK296345,AL080230,AL832373,BC013031,BC014510,BC098586,BX489377,BX648176,CR749783,EF445008,NM_015157,NM_001144758,NM_001144759,AP000941,AP002954,CH471065,AB014538,AB094090,AB177859,AK021690,AK027510,AK074070,AK074747,AK074918,AK125783,AK295819 BAG58636,BAG59029,AAH13031,AAH14510,AAH98586,CAH18649,Q5W9G0,Q68CT9,Q6ZUD6,Q86UU1,Q8NC75,Q96C94,Q96D60,Q96SW0,ACA06041,NP_055972,NP_001138230,NP_001138231,EAW67400,EAW67401,EAW67402,EAW67403,EAW67404,EAW67405,EAW67406,EAW67407,BAA31613,BAC76044,BAD66837,BAB55164,BAB84896,BAG51996,BAC11292,BAC86289 Hs.504062 DKFZp686H039|DKFZp686O24210|FLJ00141|FLJ90266|KIAA0638|LL5A|MGC111531 LL5alpha|pleckstrin homology-like domain family B member 1|protein LL5-alpha protein-coding 1350676 PHLDB2 pleckstrin homology-like domain, family B, member 2 737633 18029348,20513769,16964243,16824950,16344560,15489334,15324660,15302935,14702039,12477932,12376540,11001876,8889548,20125193,20236936,20379614 737633 90102 NM_001134437,NM_001134438,NM_001134439,AC060225,CH471052,AB209903,AF506820,AJ496194,AK025444,AK027862,AK092996,AK096151,AK125555,AK296841,AK307491,AK315050,AL137663,AL832205,AL832476,AL833135,AW264132,BC022383,BC031000,BC038806,BC069194,BC142678,BC150210,BX647615,CA310697,CR749654,DA272187,DA438817,DA447763,NM_145753,AC055748,AC117509 Q69YN5,Q69YR3,Q6ZUM0,Q86SQ0,Q8IXY4,Q8NEI7,NP_665696,NP_001127909,NP_001127910,NP_001127911,EAW79690,EAW79691,EAW79692,BAD93140,AAM33634,CAD42711,BAC04014,BAC04713,BAC86200,BAG59408,CAH56386,CAH10396,CAH10400,CAH56216,AAH31000,AAH38806,AAH69194,AAI42679,AAI50211,CAH18447,Q658P8,Q659D2 Hs.679140,Hs.603252 DKFZp313O2433|DKFZp434G227|DKFZp686J05113|FLJ21791|LL5b|LL5beta LL5 beta|OTTHUMP00000214663|OTTHUMP00000214664|OTTHUMP00000214667|pleckstrin homology-like domain family B member 2|protein LL5-beta protein-coding 1345533 PHLDB3 pleckstrin homology-like domain, family B, member 3 737633 15489334,15057824,14702039,12477932,11181995,8889548,8012384 737633 653583 NM_198850,AC018758,CH471126,Z59022,AK097512,BC007947,BC029299,BC070094,BC157852,BC171853,BU858992,CA502903,CB850627 NP_942147,EAW57191,EAW57192,EAW57193,BAC05082,AAH07947,AAH70094,AAI57853,AAI71853,Q6NSJ2,Q96HZ0 Hs.631581 FLJ40193|MGC87511 pleckstrin homology-like domain family B member 3 protein-coding 731281 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 2301729 15808505,19079341,18511290,18162466,17386267,16177791,15951569,15489334,14702039,12477932,12168954,10570941,9628581,19745829,20677014,19261608,19615732,19690890,19797085,20379614,20513427,20574456,20861921 2301729 23239 NM_194449,AC015989,AC022046,AC027553,CH471096,AB011178,AF130097,AK001924,AK124714,AL079409,BC010706,BC014927,BC047653,BC063519,BC082244,BC126277,BG110729 NP_919431,EAW63135,BAA25532,AAG35522,BAA91980,AAH10706,AAH14927,AAH47653,AAH63519,AAH82244,AAI26278,O60346,Q9H380 Hs.465337 MGC161555|PHLPP|PLEKHE1|SCOP PH domain leucine-rich repeat-containing protein phosphatase 1|PH domain-containing family E member 1|SCN circadian oscillatory protein|hSCOP|pleckstrin homology domain containing, family E (with leucine rich repeats) member 1|pleckstrin homology domain-containing family E member 1|suprachiasmatic nucleus circadian oscillatory protein protein-coding 1604636 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 19324870,17386267,16381901,15616553,15489336,14702039,12477932,11256614,11230166,11076863,10231032,19261608,19615732,20379614,20513427 23035 NM_015020,AC009097,CH471166,AB023148,AK001661,AK001854,AK124678,BC035267,BC129927,BC129983,BX647823,BX648157,BX648394 NP_055835,EAW59225,EAW59226,BAA76775,BAA91943,BAC85924,AAH35267,AAI29928,AAI29984,Q3ZCW4,Q6ZVD8,CAL37945,CAL38419 Hs.709458 KIAA0931|PHLPPL PH domain and leucine rich repeat protein phosphatase-like|PH domain leucine-rich repeat-containing protein phosphatase 2|PH domain leucine-rich repeat-containing protein phosphatase-like|PHLPP-like protein-coding 1314655 PHOSPHO1 phosphatase, orphan 1 1580863 19453261,18471996,16054448,15489334,15175005,15050893,14983068,12477932,12464021 162466 NM_001143804,NM_178500,AC004797,CH471109,AJ457189,BC029931,BC117187,BC143884 NP_001137276,NP_848595,EAW94686,CAD29803,AAI17188,Q8TCT1 Hs.405607 OTTHUMP00000220007|OTTHUMP00000220008|OTTHUMP00000220009|OTTHUMP00000220012|phosphoethanolamine/phosphocholine phosphatase protein-coding 1603445 PHOSPHO2 phosphatase, orphan 2 16341674,16344560,15815621,15489334,12477932,16054448,17207965 493911 BI550291,BM820383,DA211528,DB443540,NM_001199285,NM_001199286,NM_001199287,NM_001199288,NM_001008489,AC016772,CH471058,AK314915,BC022324,BC106013 NP_001186214,NP_001186215,NP_001186216,NP_001186217,NP_001008489,AAY24234,EAX11262,EAX11263,BAG37427,AAH22324,AAI06014,Q8TCD6,ADQ32229 Hs.655150 MGC111048|MGC22679 OTTHUMP00000204770|OTTHUMP00000204771|OTTHUMP00000204772|pyridoxal phosphate phosphatase PHOSPHO2 protein-coding 733682 PHOX2A paired-like homeobox 2a The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq] 1580863,1599902 10644760,9683611,9341190,9119371,8661014,18949361,18323871,17584765,17505528,17344216,16280598,16156742,16127999,16049556,15489334,15240857,14597037,14566559,14506227,12477932,12100889,11943777,11889467,11600883,11549713,19212675,19573018,19852579 1599902 401 NG_008169,AF022722,AF022723,AF022724,AJ320270,AP000593,CH471076,AK290645,BC041564,BQ890461,CR593042,CR595525,CR596068,CR600761,CR604478,CR607218,CR607262,CR621077,NM_005169 NP_005160,AAB82744,CAC44904,EAW74856,BAF83334,AAH41564,O14813,Q96KQ2,ABZ91991 Hs.705937 ARIX|CFEOM2|FEOM2|MGC52227|NCAM2|PMX2A ARIX1 homeodomain protein|aristaless homeobox homolog|aristaless homeobox protein homolog|arix homeodomain protein|paired mesoderm homeobox protein 2A protein-coding 1347823 PHOX2B paired-like homeobox 2b The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq] 1599147,1599148,1580863 18949361,18798833,18580884,18438890,18407552,18323871,18292934,18275850,18198276,18157832,18079495,18041756,17765533,17637745,17541758,17505528,17440194,17300129,16888290,16873766,16830328,16763219,16691592,16402914,16280598,16249188,16144830,16127999,16049556,16021468,15901893,15657873,15653965,15516980,15489334,15338462,15240857,15193420,15185974,15024693,14566559,12919134,12640453,12631670,12477932,12438263,11034547,10360575,9374403,10395798,19262523,19201717,19191321,19128492,19058226,19011468,9039501,19888871,20538960,20846217,21051998,19573018,19707990,19735829,19881470,19940179,20004937,20101209,20601214 1599147,1599148 8929 NM_003924,NG_008243,AB015671,AC105389,AF117979,AF414189,CH471069,AI266171,BC017199,CR592141,CR603200,CR615256,D82344 NP_003915,BAA82670,AAD26698,EAW92989,AAH17199,BAA11555,Q99453 Hs.87202 NBLST2|NBPhox|PMX2B PHOX2B homeodomain protein|neuroblastoma Phox|neuroblastoma paired-type homeobox protein|paired mesoderm homeobox 2b|paired mesoderm homeobox protein 2B protein-coding 1350249 PHP panhypopituitarism 5263 1322769 PHPT1 phosphohistidine phosphatase 1 PHPT1 is an EDTA-insensitive phosphohistidine phosphatase that catalyzes the dephosphorylation of phosphopeptide I (Ek et al., 2002 [PubMed 12383260]).[supplied by OMIM] 1580863 12383260,20501872,18991813,16130169,19138678,18796614,18656514,16713569,16381901,16344560,16219293,16189514,15489336,15489334,12477932,11342225,11230166,11076863,11042152,10931946,9110174,8619474,16169070,19344975 29085 NM_014172,NM_001135861,AL355987,CH471090,AA460844,AF131857,AF161490,AF164795,AF285119,AF393504,AL136644,BC024648,BQ922335,CR533481,CR614794,CR625675,DA470768 NP_054891,NP_001129333,CAI12692,CAI12693,EAW88289,EAW88290,EAW88291,EAW88292,AAF29105,AAF80759,AAG01156,AAN52504,CAB66579,AAH24648,CAG38512,Q6FIE5,Q9NRX4,Q9P019,CAL38548 Hs.409834 CGI-202|DKFZp564M173|HSPC141|PHP14|RP11-216L13.10|bA216L13.10 14 kDa phosphohistidine phosphatase|1700008C22Rik|OTTHUMP00000022620|phosphohistidine phosphatase 14kDa|protein janus-A homolog|sex-regulated protein janus-a protein-coding 1605972 PHRF1 PHD and ring finger domains 1 18204446,17081983,16344560,15489334,15302935,12477932,10997877,10819331,20848568,20881011,20962850,21068098,20112359 57661 BC144295,BC146771,DA989169,NM_020901,AP006284,CH471158,AB040975,AK308541,BC004950,BC013381,BC029651,BC041631,BC112931,BC136615,BC144293,BC144294 AAI44296,AAI46772,Q9P1Y6,NP_065952,EAX02353,EAX02354,BAA96066,AAH04950,AAH13381,AAH29651,AAH41631,AAI36616,AAI44294,AAI44295 Hs.325838 KIAA1542|RNF221 CTD binding SR like protein rA9|CTD-binding SR-like protein rA9|PHD and RING finger domain-containing protein 1 protein-coding 1353546 PHTF1 putative homeodomain transcription factor 1 1580863 10729229,18305142,17554260,16710414,16344560,15489334,12477932,10395808,1729229,20089178,20379614,20211142 10745 AL133517,AL365321,CH471122,AJ011863,AK126773,AK294749,BC000842,BC002447,CR606961,CX763183,DA728266,DB457884,NM_006608 NP_006599,CAI22546,CAI22547,CAI22548,CAI22549,CAI22550,CAI22551,CAH72502,CAH72503,CAH72504,CAH72505,EAW56566,EAW56567,EAW56568,EAW56569,CAB51572,BAG57889,AAH00842,AAH02447,Q5TCQ7,Q5TCR1,Q9BVX8,Q9UMS5 Hs.655824 PHTF OTTHUMP00000013561|OTTHUMP00000013562|OTTHUMP00000013565|OTTHUMP00000013566|putative homeodomain transcription factor 1 protein-coding 1321591 PHTF2 putative homeodomain transcription factor 2 8125298,20383146,11256614,16381901,15489336,15342556,14702039,12477932,11230166,11076863,10729229,9373149 57157 BC067742,BC127093,BC127094,BE880432,BP321440,BP395569,CB051673,CR626078,BC032334,NM_001127358,NM_001127360,NM_001127357,NM_020432,NM_001127359,AC004955,AC073520,CH236949,CH471091,AK090643,AK225854,AK308289,AL050389,AL136883,AL831969,BC018098,BC022419 AAH32334,AAH67742,AAI27094,AAI27095,Q6NW35,Q8N3S3,Q8N5I6,Q8TBW4,Q8WVD6,Q9Y3T4,CAL37861,CAL38078,NP_001120830,NP_001120832,NP_001120829,NP_065165,NP_001120831,EAL24195,EAW77027,EAW77028,EAW77029,EAW77030,EAW77031,BAG52204,CAB43684,CAB66817,CAD38610,AAH18098,AAH22419 Hs.203965,Hs.601884 DKFZp564F013|FLJ33324|MGC86999 OTTHUMP00000208229|OTTHUMP00000208231|OTTHUMP00000208232|putative homeodomain transcription factor 2 protein-coding 731796 PHYH phytanoyl-CoA 2-hydroxylase This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1358251,1580863 8954107,17353931,9326940,18612766,16189514,16186124,15930519,15489334,14974078,12923223,12767919,12477932,11574539,11555634,11549466,10866807,10767344,10744784,10709665,10686344,10588950,10051602,9565335,9326939,9266377,9221344,2433405,16169070,16385451,19834535,20877624,16756494 1358251 5264 NM_001037537,AF242379,AL138764,CH471072,AF023462,NM_006214,AF112977,BC021011,BC029512,BF185692,BF509272,BM351828,CR542055,CR591194,CR597553,CR600223,CR610525,CR623416,CR623967,NG_012862 O14832,Q6FGQ2,ABM81933,ABM85111,NP_006205,NP_001032626,AAF74123,CAI12910,CAI12911,EAW86294,EAW86295,AAB81834,AAD20602,AAH29512,CAG46852 Hs.498732 LN1|LNAP1|PAHX|PHYH1|RD OTTHUMP00000019132|phytanic acid oxidase|phytanoil-CoA alpha hydroxylase|phytanoyl-CoA 2 oxoglutarate dioxygenase|phytanoyl-CoA alpha-hydroxylase|phytanoyl-CoA dioxygenase, peroxisomal|phytanoyl-coa hydroxylase (refsum disease) protein-coding 1321250 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 737633,1580863 14702039,12477932,17207965,8889548,17567994 737633 254295 NM_001100876,NM_174933,NM_001100877,AL672142,CH471090,AK054994,AK095000,BC009373,BC051300,BC053853,BM689360,CR598139,CR614962 NP_001094346,NP_777593,NP_001094347,CAI10840,CAI10842,CAI10843,CAO72146,CAO72147,EAW87844,EAW87845,EAW87846,EAW87847,EAW87848,BAG51448,BAG52969,AAH09373,AAH51300,AAH53853,Q5SRE7,ADQ32553,CAQ77683,CAX15228 Hs.709447 MGC16638 OTTHUMP00000022304|OTTHUMP00000199642|OTTHUMP00000204998|phytanoyl-CoA dioxygenase domain-containing protein 1 protein-coding 1314035 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein 15694837,15489334,12477932,11245925,10686344,9039502,8889548,16169070 9796 NM_014759,NM_001099335,AC105206,CH471080,AK098743,AK294372,BC034034,BC035940,BM674072,D87463 NP_055574,NP_001092805,EAW63693,EAW63694,BAG57632,AAH34034,AAH35940,BAA13402,Q92561 Hs.334688 DYRK1AP3|KIAA0273|PAHX-AP|PAHXAP1 DYRK1A interacting protein 3|PAHX-AP1|phytanoyl-CoA alpha-hydroxylase associated protein|phytanoyl-CoA hydroxylase interacting protein|phytanoyl-CoA hydroxylase-associated protein 1|phytanoyl-CoA hydroxylase-interacting protein protein-coding 1317467 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein-like 737633 16385451,20379614,11256614,16381901,16189514,15489336,14702039,12975309,12477932,11347906,11230166,11076863,8889548,20877624 737633 84457 NM_001143774,AC016398,AC025038,CH471083,AB058699,AK054956,AL365474,AL834339,AW299583,AY358162,BC011268,NM_032439,BM676577,CR593164,CR611792,CR749429,DB455338,DB551000 NP_115815,NP_001137246,EAW54184,EAW54185,EAW54186,BAB47425,BAB70832,CAB97028,CAD39006,AAQ88529,AAH11268,CAH18267,Q96FC7,CAL37621,CAL38059 Hs.499704 KIAA1796 phytanoyl-CoA hydroxylase interacting protein-like|phytanoyl-CoA hydroxylase-interacting protein-like protein-coding 1319988 PI15 peptidase inhibitor 15 This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq] 1580863 9473672,18029348,18464913,12477932,10362728,8882727 51050 NM_015886,AC011632,AC026616,CH471068,AK130318,AK130386,BC074931,BC074932,BC126290,BC126292,CR749657,D45027 NP_056970,EAW87037,AAH74931,AAH74932,AAI26291,AAI26293,CAH18451,BAA25066,O43692,ADR83354 Hs.98558 CRISP8|DKFZp686F0366|P24TI|P25TI 25 kDa trypsin inhibitor|CRISP-8|PI-15|cysteine-rich secretory protein 8|peptidase inhibitor 15|protease inhibitor 15|sugarCrisp protein-coding 1312389 PI16 peptidase inhibitor 16 17062675,16303743,15344909,12975309,12477932,20237162,16344560 221476 NM_153370,AL122034,AX136261,CH471081,AK075470,AK124589,AK312785,AL050088,AY358422,BC022399,BC035634,CR626203,AK302193,AK303928,DA342875,DB178215,NM_001199159 NP_699201,CAI23302,CAC39772,EAX03923,EAX03924,BAC11640,BAC85892,BAG35648,AAQ88788,AAH22399,AAH35634,Q6UXB8,BAG63555,BAG64856,NP_001186088 Hs.720179 CRISP9|DKFZp586B1817|MGC45378|MSMBBP|PSPBP CRISP-9|PI-16|PSP94-binding protein|cysteine-rich secretory protein 9|microseminoprotein, beta-binding protein|peptidase inhibitor 16|protease inhibitor 16 protein-coding 1344308 PI3 peptidase inhibitor 3, skin-derived This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq] 1580863 20932308,7780965,2394696,2039600,2001428,1969201,1536690,1339270,19823954,19420899,19723838,19906197,20126474,20346360,20371463,8287685,7685029,8476637,19251943,19197381,19095674,18799464,18700007,18203972,18092325,18025118,17964057,17489739,17200145,17139263,16980310,16913840,16719916,16424380,16300411,16279952,15668324,15489334,15034071,14693682,12970320,12819058,12542536,12477932,12397374,12206714,12164924,12029489,11956616,11868825,11780052,11755920,11667971,11466403,11371023,9727750,9171290,8999895,8823304,8794736,19824918 5266 NM_002638,AL049767,CH471077,D13156,L10343,S58717,S78387,Z48352,AA583773,BC010952,CR542234,Z18538 NP_002629,CAB53524,EAW75873,EAW75874,BAA02441,AAA36483,AAB26371,AAB34627,AAH10952,CAG47030,CAA79223,P19957,Q6LD69,ABM83636,ABM86888 Hs.112341 ESI|MGC13613|SKALP|WAP3|WFDC14|cementoin PI-3|WAP four-disulfide core domain 14|WAP four-disulfide core domain protein 14|elafin|elastase-specific inhibitor|peptidase inhibitor 3, skin-derived (SKALP)|pre-elafin|protease inhibitor 3, skin-derived (SKALP)|protease inhibitor 3, skin-derived (skalp)|protease inhibitor WAP3|skin-derived antileukoproteinase|trappin-2 protein-coding 1605063 PI4K2A phosphatidylinositol 4-kinase type 2 alpha Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM] 8619474,11279162,19010779,18256276,16443754,16249177,15711748,15302935,14702039,12914695,12650639,12594831,12477932,12324459,11244087,11113129,9110174,9006891,20562859,16385451,19561074,20154717 55361 NM_018425,AL355315,CH471066,AF070611,AJ303098,AK023236,AK024317,AK309343,AL353952,BC003167,BT007330,CR598202,CR604148,CR609749 NP_060895,CAI15460,EAW49906,EAW49907,CAC38065,CAB89254,AAH03167,AAP35994,Q9BTU6,ABM84463,ABM84684 Hs.25300 DKFZp761G1923|PI4KII|PIK42A|RP11-548K23.6 OTTHUMP00000221793|phosphatidylinositol 4-kinase type 2-alpha|phosphatidylinositol 4-kinase type II (PI4KII)|phosphatidylinositol 4-kinase type II-alpha protein-coding 1602326 PI4K2B phosphatidylinositol 4-kinase type 2 beta Phosphatidylinositol 4-kinases (PI4Ks) phosphorylate phosphatidylinositol to generate phosphatidylinositol 4-phosphate (PIP), an immediate precursor of several important signaling and scaffolding molecules. PIP itself may also have direct functional and structural roles. PI4K2B is a primarily cytosolic PI4K that is recruited to membranes, where it stimulates phosphatidylinositol 4,5-bisphosphate synthesis (Wei et al., 2002 [PubMed 12324459]).[supplied by OMIM] 18316730,16949365,16337488,14702039,12477932,12324459,11923287,11907035,20583997,18029348,19539307 55300 NM_018323,AC104662,AC108218,CH471069,AF411320,AK001967,AK023186,AK128622,AK296302,AY065990,AY091514,BC031014,BC051749,HB386249 NP_060793,EAW92836,AAL04154,BAA92006,BAG54701,BAG59002,AAL47580,AAM12049,AAH51749,Q8TCG2,CAZ64455 Hs.726376 FLJ11105|PI4KIIB|PIK42B OTTHUMP00000218478|PI4KII-BETA|phosphatidylinositol 4-kinase type 2-beta|phosphatidylinositol 4-kinase type II-beta|phosphatidylinositol 4-kinase type-II beta protein-coding 736810 PI4KA phosphatidylinositol 4-kinase, catalytic, alpha This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 633726,1580863,1300048 20530568,20052689,17215244,19304308,19605471,19608626,8662589,14676841,7961848,18646052,18615484,18585705,18521859,18077555,17893707,17555516,17131383,16606619,15634669,15489334,14702039,12497619,12477932,11907035,10101268,9654085,9360995,8889548,8246987,7761838,1318025,16169070,15607035,19913121,20628086 633726 5297 NM_058004,NM_002650,AC007050,AC007308,AB210002,AF012872,AK094594,AK095811,AK124692,AK131431,AK302424,AK314781,BC018120,BC046202,BC053654,BU685224,CR620194,L36151 NP_477352,NP_002641,BAE06084,AAD13352,BAG53136,BAG63727,BAG37317,AAH18120,AAH53654,AAA56839,P42356,Q4LE69,AAI72398 Hs.529438 FLJ16556|PI4K-ALPHA|PIK4CA|pi4K230 PI4-kinase alpha|phosphatidylinositol 4-kinase|phosphatidylinositol 4-kinase 230|phosphatidylinositol 4-kinase alpha|phosphatidylinositol 4-kinase, type III, alpha|ptdIns-4-kinase alpha protein-coding 1626566 PI4KAP1 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 14702039,12477932 728233 NR_003563,AC023490,AK002141,AK024034,AK096724,AK292695,BC072398,BC131538,CR600426,CR603232,CR613977 BAC04851,BAF85384 Hs.592456 FLJ39405 pseudo 1604941 PI4KAP2 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 16344560,16189514,15489334,15461802,14702039,12477932,12107411,8889548,7566098 375133 NR_003700,AP000557,AA300351,AA425488,AK126860,AK297163,AK298744,AK299734,AK303215,BC020225,BC139841,BQ638971,BX407261,BX452846,CA313607,CR456378,CR599290,CR601335,CX751888,DA463001 BAC86726,BAG59660,BAG60888,BAG61631,BAG64303,AAI39842,CAG30264,A4QPH2,AAI41653 Hs.448225,Hs.592456 FLJ44912|MGC31920 pseudo 732673 PI4KB phosphatidylinositol 4-kinase, catalytic, beta 14702039,20562859,19605471,19608626,9584208,17353931,9020160,19204726,18474610,17555516,17088255,17081983,17003043,16710414,15634669,15489334,15324660,14607934,12749687,12477932,12324459,12244129,11923287,11526106,11277933,10559940,9405938,9405935,9148941,15778465 5298 NM_002651,AL391069,CH471121,AB005910,AJ011121,AK294606,AK311292,BC000029,BC040300,U81802,AK054691,AL832188,DC350175,DC365634,NM_001198773,NM_001198774,NM_001198775 NP_002642,CAH70324,CAH70325,CAH70326,CAO72153,CAO72154,CAX15209,EAW53449,EAW53450,BAA21661,CAA09495,BAG57793,AAH00029,AAH40300,AAC51156,Q9UBF8,NP_001185702,NP_001185703,NP_001185704 Hs.632465 DKFZp686O1820|FLJ30129|NPIK|PI4K-BETA|PI4K92|PI4KBETA|PI4KIIIBETA|PIK4CB OTTHUMP00000014284|OTTHUMP00000014285|PtdIns 4-kinase beta|phosphatidylinositol 4-kinase|phosphatidylinositol 4-kinase beta|phosphatidylinositol 4-kinase, wortmannin-sensitive|type III phosphatidylinositol 4-kinase beta protein-coding 1352637 PI8L2 protease inhibitor 8 (ovalbumin type)-like 2 10644448 11028 1317273 PIAS1 protein inhibitor of activated STAT, 1 This gene encodes a member of the mammalian PIAS [protein inhibitor of activated STAT-1 (signal transducer and activator of transcription-1)] family. This member contains a putative zinc-binding motif and a highly acidic region. It inhibits STAT1-mediated gene activation and the DNA binding activity, binds to Gu protein/RNA helicase II/DEAD box polypeptide 21, and interacts with androgen receptor (AR). It functions in testis as a nuclear receptor transcriptional coregulator and may have a role in AR initiation and maintenance of spermatogenesis. [provided by RefSeq] 1357941,2290530,1580863 17066076,17533377,17540171,18806873,19604093,19906316,20159969,20351170,16029420,20016594,20016603,20711444,20936779,14500712,12855578,12477932,12393906,12356736,12223491,12177000,11877418,11867732,11788578,11672422,11583632,11451946,11439351,11117529,10628744,9724754,9177271,11716541,14609633,10380882,14500761,18579533,15572661,17087506,10805787,17696781,14752048,19288270,19136629,18660489,18190974,17934332,17606919,17509614,17371985,17159996,17081983,16679534,16600910,16563226,16522640,16154161,16144832,16135793,15957955,15901746,15782135,15666827,15666801,15657437,15611122,15588942,15580297,15572677,15572666,15489334,15337742,15280358,15231748,15192080,15133049,15123615,15028714,14702039,14701874,14611647,16421255,19394292,20209145 1357941,2290530 8554 NM_016166,AC107871,AC135628,CH471082,AF077951,AF167160,AK094641,AK314515,AY826819,BC053685,BC104646,BC118587,BC121797,CR607929,EF487997,EF487998,FJ997900,U78524 NP_057250,EAW77804,EAW77805,AAC36702,AAD49722,BAG52901,BAG37114,AAX18639,AAI18588,AAI21798,ABP49565,ABP49566,ACR77525,AAB58488,O75925,Q1XBU8 Hs.162458 DDXBP1|GBP|GU/RH-II|MGC141878|MGC141879|ZMIZ3 AR interacting protein|DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1|DEAD/H box-binding protein 1|E3 SUMO-protein ligase PIAS1|RNA helicase II-binding protein|gu-binding protein|protein inhibitor of activated STAT protein 1|protein inhibitor of activated STAT-1|zinc finger, MIZ-type containing 3 protein-coding 1603704 PIAS2 protein inhibitor of activated STAT, 2 This gene encodes a protein involved in the regulation of transcription factors involved in MAP kinase signaling. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq] 2290530 20493880,15767674,11877418,9256341,19160485,18923429,16730941,16713578,16460827,16204249,16189514,16148010,16144832,15976810,15920481,15580267,15489334,15301740,15231748,14609633,14514699,12716907,12526767,12477932,12393906,12239342,12193603,12177000,11867732,11477070,11439351,11117529,10961991,9920921,9724754,12356872,11283613,14752048,15780936,18579533,15572661,14667819,16029420,16269333,19901969,20936779,16154161,17066076,17533377,19549844,20308430 2290530 9063 NM_004671,NM_173206,AC090241,AC090373,CH471088,AA701927,AF077953,AF077954,AF361054,AK294801,AK308143,AW016227,BC015190,BC111060,BX646432 NP_004662,NP_775298,EAX01484,EAX01485,EAX01486,EAX01487,EAX01488,AAC36704,AAC36705,AAK48938,BAG57921,AAH15190,AAI11061,O75928,Q2TA77,ABM87420,ABW03883 Hs.658013 MGC102682|MIZ1|PIASX|PIASX-ALPHA|PIASX-BETA|SIZ2|ZMIZ4|miz ARIP3|DAB2-interacting protein|DIP|E3 SUMO-protein ligase PIAS2|Msx-interacting-zinc finger|PIAS-NY protein|androgen receptor-interacting protein 3|msx-interacting zinc finger protein|protein inhibitor of activated STAT x|zinc finger, MIZ-type containing 4 protein-coding 1344818 PIAS3 protein inhibitor of activated STAT, 3 This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1642482,2290530,1580863 16029420,20936779,9388184,11477070,15171715,17533377,19903771,20159969,20231901,20516148,10319586,17087506,17696781,19569236,19308990,18550668,18212042,17987106,17565989,17032498,16679534,16522640,16455055,16368885,16098628,15907835,15489334,15231748,15140884,15138572,14715251,14702039,14691252,14630083,12869526,12804609,12477932,12387893,12208521,11709556,11429412,11390395,11117529,11071847,11060035,19760037 1642482,2290530 10401 AL160282,CH471244,AB021868,AK027557,AK125158,AK294231,AK304039,AL122061,AL133016,BC001154,BC030556,BE247489,NM_006099,BT007036,CR457090,CR590421 NP_006090,EAW71429,EAW71430,EAW71431,BAA78533,BAG51345,BAG57533,BAG64950,CAB59241,CAB61357,AAH01154,AAH30556,AAP35684,CAG33371,Q6IAR4,Q9UFA8,Q9Y6X2,ABM84468,ABM84722,ABM85963,ABW03445 Hs.435761 FLJ14651|ZMIZ5 E3 SUMO-protein ligase PIAS3|OTTHUMP00000015587|protein inhibitor of activated STAT protein 3|zinc finger, MIZ-type containing 5 protein-coding 1318687 PIAS4 protein inhibitor of activated STAT, 4 1357941,2290530,1580863 20016594,20016603,20471636,20661221,11388671,15383276,9724754,11248056,18384750,18285457,17717071,17585876,17456046,17353273,16906147,16816390,16793547,16679534,16219678,16189514,15976810,15831457,15489334,15251447,15231748,15158472,15155784,14981544,14559918,12815042,12750312,12740389,12727872,12631292,12511558,12477932,11877418,11781839,11731474,11439351,9373149,8125298,19394292,19779455,20211142,20300531,12904571,17183683,17696781,18029348,18579533,20054338,20159969 1357941,2290530 51588 NM_015897,AC016586,CH471139,AF077952,AF164437,AK022481,AK222726,AK315530,BC004389,BC010047,BC029874,BC066895 NP_056981,EAW69273,AAC36703,AAD45155,BAG51076,BAD96446,AAH04389,AAH10047,AAH29874,AAH66895,Q05DS6,Q53H55,Q8N2W9,ABM83345,ABM86559 Hs.105779 FLJ12419|MGC35296|PIASY|Piasg|ZMIZ6 E3 SUMO-protein ligase PIAS4|PIAS-gamma|protein inhibitor of activated STAT protein 4|protein inhibitor of activated STAT protein PIASy|protein inhibitor of activated STAT protein gamma|zinc finger, MIZ-type containing 6 protein-coding 1312894 PIBF1 progesterone immunomodulatory binding factor 1 16433831,15489334,15305375,15269099,15057823,14634107,12477932,11935316,11407300,11329013,9266004,9138449,8607938,2600930,20936779,20367622,19290853,19371956,19898481 10464 BC051911,BG201462,BX341357,CR618612,AL354720,AL391384,CH471093,Y09631,AF330046,AK309828,AY370776,AY375528,BC006009,BC008432,BC041806,NM_006346 AAH51911,Q05DN0,Q4G0R1,Q8WXW3,NP_006337,CAI14869,CAI15673,EAW80522,EAW80523,CAA70844,AAL37481,AAQ73282,AAQ67659,AAH06009,AAH41806 Hs.441926 C13orf24|KIAA1008|PIBF|RP11-505F3.1 progesterone-induced blocking factor 1|progesterone-induced-blocking factor 1 protein-coding 732553 PICALM phosphatidylinositol binding clathrin assembly protein 1600760,1580863 20554627,17597474,17170719,17097559,16491119,16262731,15489334,15146197,14702039,12477932,12461747,10926122,9737689,8643484,1547942,15182197,20838239,10436022,18182011,18094714,18074379,18037964,17804713,20558387,20570404,20697030,20739100,20738160,20951388,21059989,11425879,14985334,18029348,19450545,19658100,19734902,20460622,20534741 1600760 8301 NM_001008660,NM_007166,AP000767,CH471076,AB210017,AB451308,AF060939,AF060940,AK128786,AK291414,AK297062,AK300275,AY326466,BC048259,BC064357,BC073961,CN310579,EF051633,U45976 NP_001008660,NP_009097,EAW75118,EAW75119,EAW75120,EAW75121,EAW75122,EAW75123,EAW75124,EAW75125,EAW75126,EAW75127,EAW75128,BAE06099,BAG70122,AAC16711,AAC16712,BAF84103,BAG59583,BAG62035,AAR99516,AAH48259,AAH64357,AAH73961,ABK54356,AAB07762,Q13492,Q4LE54,Q6EHZ1 Hs.163893 CALM|CLTH|LAP clathrin assembly lymphoid myeloid leukemia protein|clathrin assembly lymphoid-myeloid leukemia|phosphatidylinositol-binding clathrin assembly protein protein-coding 69496 PICK1 protein interacting with PRKCA 1 The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 11343649,12138111,10623590,19219857,19086053,18692513,17914463,17606663,17367885,16713569,16314870,15811349,15489334,15461802,15458844,15305146,11237868,11007882,10839360,10591208,10340301,14702039,14550765,12941441,12826667,12597860,12578970,12529303,12508107,12477932,12399460,12065412,11891216,11802773,11739374,11641419,11278603,9405395,9373149,8125298,7844141,20384629,16712791,15304526,9883737,20385472,20562896,10027300,16055064,20018661 9463 NM_001039583,NM_001039584,AL031587,CH471095,AB026491,AF231710,AK000875,AK092818,AK222640,AK299684,AK308792,AK310629,AL049654,AL137355,BC017561,CB141073,NM_012407,CR456550,CR613255,CN482899 NP_036539,NP_001034672,NP_001034673,CAB37478,CAQ06640,CAQ06641,CAQ06642,CAQ06643,CAQ06644,EAW60207,EAW60208,EAW60209,EAW60210,EAW60211,EAW60212,EAW60213,BAA89294,AAF97502,BAG50834,BAG52614,BAD96360,BAG61591,CAB41082,AAH17561,CAG30436,Q53HE0,Q9NRD5,CAK54581,CAK54880,ABM84036,ABM87383 Hs.180871 MGC15204|PICK|PRKCABP OTTHUMP00000199291|PRKCA-binding protein|protein interacting with C kinase 1|protein kinase C, alpha binding protein|protein kinase C-alpha-binding protein|protein that interacts with c kinase 1 protein-coding 1605994 PID1 phosphotyrosine interaction domain containing 1 20165904,19079291,17124247,16815647,15489334,15221005,14702039,12477932,8889548,21107309,19849947,20010835,20140872 55022 NM_001100818,NM_017933,AC006368,AC006375,AC007677,CH471063,AB075874,AK000708,AK096636,AK125359,AY317148,BC040164,BU727693,CR591262,CR613545,DB474424 NP_001094288,NP_060403,AAY14947,AAX88839,EAW70891,BAD38656,BAA91333,BAG53344,BAC86145,AAP79437,AAH40164,Q4ZG81,Q7Z2X4 Hs.726410 FLJ20701|HMFN2073|NYGGF4|PCLI1 P-CLI1|PTB-containing, cubilin and LRP1-interacting protein|phosphotyrosine interaction domain-containing protein 1 protein-coding 1316743 PIF1 PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) PIF1 is a 5-prime-to-3-prime DNA helicase that negatively regulates telomerase (see TERT; MIM 187270), a reverse transcriptase that maintains telomere length (Zhang et al., 2006 [PubMed 16522649]).[supplied by OMIM] 16522649,18835853,17827721,17172855,14702039,12477932,10926538,20524933,19700773 80119 NM_025049,AC091582,CH471082,AB185926,AB185927,AF108138,AK026345,AY498716,BC018978,BC033254,BC137503,BC137504,DQ437529,EU084033 NP_079325,EAW77694,EAW77695,EAW77696,BAE47454,BAE47455,AAD44047,BAB15456,AAS77398,AAI37504,AAI37505,ABD92708,ABW71293,Q9H611,Q9Y645 Hs.112160 C15orf20|PIF ATP-dependent DNA helicase PIF1|DNA helicase PIF1|DNA helicase homolog PIF1|PIF1 DNA helicase|PIF1/RRM3 DNA helicase-like protein|chromosome 15 open reading frame 20|petite integration frequency 1 protein-coding 1607087 PIGA phosphatidylinositol glycan anchor biosynthesis, class A This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. [provided by RefSeq] 8557259,8500164,8306954,8193350,8167330,8081362,8081230,7680492,15625823,19540188,20034593,20060400,20533382,16162815,11102867,19074066,19013003,17823237,16923549,16344560,15687243,15489334,14702039,12477932,12424196,12411324,12130519,12037021,10944123,10087994,9463366,8900170 5277 BQ026877,CX870731,DC347872,NR_033835,NR_033836,NM_002641,NM_020473,NG_009786,AC095351,CH471074,D28791,X77729,AK098047,AK290497,AK303538,AK304144,AK315063,BC038236,BM998465,D11466,DA951065,S61523,S74936 NP_002632,NP_065206,EAW98879,EAW98880,EAW98881,EAW98882,EAW98883,EAW98884,BAA05966,BAG53569,BAF83186,BAG64564,BAG65037,BAG37537,AAH38236,BAA02019,AAD13929,AAD14160,P37287 Hs.137154 GPI3|PIG-A GLCNAC-PI synthesis protein|GPI anchor biosynthesis|class A GlcNAc-inositol phospholipid assembly protein|phosphatidylinositol N-acetylglucosaminyltransferase subunit A|phosphatidylinositol-glycan biosynthesis, class A protein protein-coding 1350762 PIGAP1 phosphatidylinositol glycan anchor biosynthesis, class A, pseudogene 1 8081362 5278 NG_001174,AC010200,X77457 phosphatidylinositol glycan, class a, pseudogene 1 pseudo 1316334 PIGB phosphatidylinositol glycan anchor biosynthesis, class B This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq] 1580863 8861954,11102867,18198489,16344560,15489334,14702039,12477932,12058346,9373149,8125298,7907094,20379614 9488 AC018926,CH471082,CQ834302,AK093138,AK223330,AK293666,AK314706,BC017711,CR591869,D42138,DA598474,NM_004855 NP_004846,EAW77480,CAH05366,BAD97050,BAG57112,BAG37253,AAH17711,BAA07709,Q92521 Hs.612814 MGC21236 GPI mannosyltransferase 3|GPI mannosyltransferase III|GPI-MT-III|PIG-B|phosphatidylinositol glycan, class B|phosphatidylinositol glycan, class b|phosphatidylinositol-glycan biosynthesis class B protein protein-coding 1322738 PIGC phosphatidylinositol glycan anchor biosynthesis, class C This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq] 1580863 20935629,11102867,8806613,16710414,15489334,12655644,12477932,10944123,9463366,9325057,8900170,7566098,16169070 5279 NM_153747,AB000360,CH471067,Z97195,AA372370,AK308201,AL035301,BC006539,BC063473,BG106700,BT006734,CR450292,CR597603,CR602183,NM_002642,CR606378,CR606898,CR610325,CR619683,D85418 NP_002633,NP_714969,BAA22866,EAW90925,EAW90926,EAW90927,EAW90928,CAB10071,CAA22906,AAH06539,AAP35380,CAG29288,BAA12812,Q92535,Q9Y476 Hs.188456 GPI2|MGC2049 OTTHUMP00000032653|PIG-C|phosphatidylinositol N-acetylglucosaminyltransferase subunit C|phosphatidylinositol-glycan biosynthesis class C protein|phosphatidylinositol-glycan biosynthesis, class C protein protein-coding 1343508 PIGCP1 phosphatidylinositol glycan anchor biosynthesis, class C, pseudogene 1 9325057 5280 NG_001175,AB000359,AC131263 phosphatidylinositol glycan, class c, pseudogene 1 pseudo 1351645 PIGF phosphatidylinositol glycan anchor biosynthesis, class F This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 20673868,8463218,15632136,11102867,18805052,18466718,17964973,17028267,16794222,16702604,16702473,15489334,12477932,10781593,8575782,8081220,19201345,19658040,19712973,20416077,20452482,20966902 5281 NM_002643,NM_173074,AC018682,CH471053,D49725,AK291108,BC021725,BC029408,CR457000,CR604721,D13435 NP_002634,NP_775097,AAY14835,EAX00240,EAX00241,EAX00242,EAX00243,EAX00244,EAX00245,BAF83797,AAH21725,AAH29408,CAG33281,BAA02697,Q07326,Q6IB04,ABM83564,ABM86802 Hs.468415 MGC32646|MGC33136 GPI11 homolog|PIG-F|phosphatidylinositol glycan, class f|phosphatidylinositol-glycan biosynthesis class F protein protein-coding 1347332 PIGFP1 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 1 8575782 5282 NG_001176,AC104117,D49727 phosphatidylinositol glycan, class f, pseudogene 1 pseudo 1603213 PIGG phosphatidylinositol glycan anchor biosynthesis, class G 15632136,11102867,16344560,16303743,15489334,14702039,12975309,12477932,19724895,19851296,20198315 54872 BC144576,DA548833,NM_001127178,NM_017733,AC092574,AC116565,CH471131,CQ782750,AB162713,AK000272,AK027465,AK074715,AK074815,AK097244,AK296507,AK309107,AL137741,AL157494,AL162084,AW451782,AY358538,BC000937,BC001249,BC050262,BC110878 Q5H8A4,Q69YV2,Q8NCI4,NP_001120650,NP_060203,EAW82663,EAW82664,EAW82665,CAF85981,BAD89023,BAA91046,BAB55130,BAC11157,BAC11227,BAC04984,BAG59139,CAH10692,AAQ88902,AAH00937,AAH01249,AAI10879 Hs.7099 DKFZp434A1810|DKFZp434C1712|DKFZp434M1131|FLJ20265|FLJ39925|GPI7|LAS21|MGC131903|PRO4405|RLGS1930 GPI ethanolamine phosphate transferase 2|GPI7 homolog|OTTHUMP00000216587|PIG-G|hGPI7|phosphatidylinositol glycan, class G|phosphatidylinositol-glycan biosynthesis class G protein protein-coding 1322902 PIGH phosphatidylinositol glycan anchor biosynthesis, class H This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. 1580863 11102867,8900170,17207965,18029348,15489334,15342556,12477932,9463366,8407896,8204896 5283 NM_004569,AL132640,CH471061,AI633958,AK314108,BC004100,BC071849,BP244435,BT006804,CR605373,L19783 NP_004560,EAW80941,EAW80942,BAG36801,AAH04100,AAH71849,AAP35450,AAA03545,Q14442,ADQ32792 Hs.553497 GPI-H PIG-H|phosphatidylinositol N-acetylglucosaminyltransferase subunit H|phosphatidylinositol glycan, class H|phosphatidylinositol-glycan biosynthesis class H protein|phosphatidylinositol-glycan biosynthesis, class H protein protein-coding 1315550 PIGK phosphatidylinositol glycan anchor biosynthesis, class K This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq] 1580863 10793132,11483512,1846368,12582175,16710414,16344560,15489334,14702039,12802054,12616539,12477932,12052837,11278620,10727241,9356492,8978684,17207965 10026 AK304340,CR614831,DA263434,Y07596,AC093433,AC113935,AL035409,CH471059,AF022913,AK055071,AK313015,BC020737,BC026186,BX648473,CR594196,NM_005482 BAG65185,CAA68871,Q92643,NP_005473,CAI21819,CAI21820,EAX06380,EAX06381,EAX06382,EAX06383,AAB81597,BAG35850,AAH20737,ADQ32189 Hs.178305 GPI8|MGC22559 GPI transamidase subunit|GPI-anchor transamidase|GPI8 homolog|OTTHUMP00000011256|OTTHUMP00000011257|PIG-K|phosphatidylinositol glycan, class K|phosphatidylinositol-glycan biosynthesis class K protein protein-coding 1342664 PIGL phosphatidylinositol glycan anchor biosynthesis, class L This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq] 1580863 17207965,10085243,11102867,15489334,14742432,14702039,12477932,9188481 9487 NM_004278,AC005971,CH471222,AB017165,AI888858,AK023469,AK292932,AK296120,AK302523,BC068197,BX404762 ADQ32060,NP_004269,EAX04497,EAX04498,BAA74775,BAF85621,BAG58868,BAG63796,AAH68197,Q9Y2B2 Hs.499793,Hs.625050 N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase|N-acetylglucosaminylphosphatidylinositol deacetylase|PIG-L|phosphatidylinositol glycan, class L|phosphatidylinositol-glycan biosynthesis class L protein protein-coding 1346161 PIGM phosphatidylinositol glycan anchor biosynthesis, class M This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq] 70624,1580863 11102867,16767100,16710414,16303743,15489334,12477932,11226175,15635094 70624 93183 NM_145167,NG_012238,AL513302,CH471121,CQ783538,CQ834396,AB028127,AK074655,BC001803,BC011395,BC019865,BX643162,CR602111,CR606417,CR621612,CR624318 NP_660150,CAH71492,EAW52751,EAW52752,CAF86713,CAH05413,BAB18567,BAC11116,AAH01803,AAH19865,Q9H3S5 Hs.552810 GPI-MT-I|MGC29896 GPI mannosyltransferase 1|GPI mannosyltransferase I|PIG-M mannosyltransferase|phosphatidylinositol-glycan biosynthesis class M protein protein-coding 1322753 PIGN phosphatidylinositol glycan anchor biosynthesis, class N This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq] 1580863 10069808,11102867,16344560,16341674,15489334,12477932,10574991,8889548,19690890,20379614 23556 NM_176787,AC090354,AC090396,CH471096,AF109219,AK000730,AK315134,AL137607,BC028363,BF112133,BM683126,BM830623,BQ023276,BU739970,CR615107,DB093302,NM_012327,DB239067 O95427,NP_036459,NP_789744,EAW63116,EAW63117,EAW63118,EAW63119,AAD11432,BAG37585,CAB70839,AAH28363 Hs.157031 MCD4|MDC4|MGC26427|PIG-N GPI ethanolamine phosphate transferase 1|MCD4 homolog|phosphatidylinositol glycan, class n|phosphatidylinositol-glycan biosynthesis class N protein protein-coding 1319869 PIGO phosphatidylinositol glycan anchor biosynthesis, class O This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least two alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq] 11102867,15489334,15164053,12975309,12477932,12044878,10781593,8889548,20379614,19913121,20628086 84720 NM_152850,NM_032634,AB083625,AC004472,AL353795,CH471071,AK074064,AK090433,AL833956,AW149348,AY358472,BC001030,BC013987,BC029271,BC036916,BC065282,BI818120,CD387014,BE139632,BU727886,CR985224,CR991745,NM_001201484 NP_690577,NP_116023,BAB89338,AAC07985,CAH70995,CAH70996,EAW58397,EAW58398,EAW58399,EAW58400,BAB84890,BAC03414,CAD38806,AAQ88836,AAH01030,AAH13987,AAH29271,AAH36916,AAH65282,Q8TEQ8,NP_001188413 Hs.522099 DKFZp434M222|FLJ00135|MGC20536|MGC3079|RP11-182N22.4 GPI ethanolamine phosphate transferase 3|OTTHUMP00000021325|PIG-O|phosphatidylinositol glycan, class O|phosphatidylinositol glycan, class o|phosphatidylinositol-glycan biosynthesis class O protein protein-coding 1316260 PIGP phosphatidylinositol glycan anchor biosynthesis, class P This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 11102867,15489334,15221505,12477932,11331941,10944123,10907851,10830953,10814524,20379614 51227 NM_153681,NR_028352,AP000704,AP001429,AP001431,AP001727,CH471079,AB035742,AB035743,AB035744,AB035745,AB037162,AB037163,AB037164,AB039659,AB451328,AB451472,AF216305,NM_153682,AF237812,AI127387,AK026311,AK304656,AK314457,AK316609,BC005180,BC011007,BE275469,BT007053 AAF32289,P57054,NP_710149,NP_710148,BAA95512,EAX09724,EAX09725,EAX09726,EAX09727,EAX09728,BAA95633,BAA95634,BAA95635,BAA95636,BAA96871,BAA96872,BAA96873,BAB12395,BAG70142,BAG70286,AAG09757,BAG65431,BAG37065,BAG38196,AAH05180,AAH11007,AAP35702 Hs.656565,Hs.716087 DCRC|DCRC-S|DSCR5|DSRC Down syndrome critical region gene 5|Down syndrome critical region protein 5|Down syndrome critical region protein C|OTTHUMP00000109077|PIG-P|phosphatidylinositol N-acetylglucosaminyltransferase subunit P|phosphatidylinositol glycan, class P|phosphatidylinositol-glycan biosynthesis class P protein|phosphatidylinositol-n-acetylglucosaminyltranferase subunit protein-coding 1347377 PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). [provided by RefSeq] 1580863 9729469,11102867,15616553,15489334,15231748,14702039,12477932,11418246,11157797,10944123,10373468,9463366,19851296,20198315 9091 Z98883,AB003723,AF030177,AK055163,AK092073,AK300297,AK314361,BC006377,BC010094,NM_148920,NM_004204,AE006464,CH471112 EAW85796,EAW85797,EAW85798,EAW85799,EAW85800,CAB56148,CAM26442,BAA24948,AAC32661,BAG52479,BAG62051,BAG36993,AAH06377,Q9BRB3,ABM83588,ABM86829,NP_683721,NP_004195,AAK61235,EAW85795 Hs.644153 GPI1|MGC12693|c407A10.1|hGPI1 N-acetylglucosaminyl transferase component Gpi1|N-acetylglucosamyl transferase component GPI1|OTTHUMP00000205086|OTTHUMP00000205087|PIG-Q|c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component))|phosphatidylinositol N-acetylglucosaminyltransferase subunit Q|phosphatidylinositol glycan, class Q|phosphatidylinositol-glycan biosynthesis class Q protein protein-coding 737525 PIGR polymeric immunoglobulin receptor The poly-Ig receptor is expressed on several glandular epithelia including those of liver and breast. It mediates transcellular transport of polymeric immunoglobulin molecules. It is a member of the immunoglobulin superfamily (Hood et al., 1985 [PubMed 3917857]). The receptor has 5 units with homology to the variable (V) units of immunoglobulins and a transmembrane region, which also has some homology to certain immunoglobulin variable regions.[supplied by OMIM] 1580863 17353931,2920039,19338768,17460948,17428798,16740002,16335952,16288892,16272325,16086865,16048543,15972671,15864740,15530357,15265917,15084671,14660617,14644095,14631119,13679368,12740691,12654638,12546713,12477932,12213814,12186846,12183558,12165516,12121890,11832247,11714807,11579946,11509627,11376148,11034397,11030626,11012775,10809756,10556562,10540352,10229845,10227981,9373149,9237679,9182878,8455639,8125298,7989333,7107583,6526384,3917857,3197448,1940346,1859628,1682231,1355431,19913121,20628086 5284 NM_002644,A52091,AC098935,AF261083,CH471100,S43449,AF272149,AK225471,AK310199,AY178835,BC110061,BC110494,NG_012927,BC110495,CR749533,M24559,S62403,X73079 NP_002635,CAA03384,AAF72193,EAW93515,EAW93516,AAB23176,AAN65630,AAI10495,AAI10496,CAH18339,AAA36102,AAB20203,CAA51532,P01833,Q8TE27 Hs.497589 FLJ22667|MGC125361|MGC125362 hepatocellular carcinoma associated protein TB6|hepatocellular carcinoma-associated protein TB6|poly-Ig receptor|polymeric immunoglobulin receptor protein-coding 1354267 PIGS phosphatidylinositol glycan anchor biosynthesis, class S This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq] 1580863 11483512,1846368,15713669,16344560,16303743,15489334,14702039,12975309,12802054,12582175,12477932,12052837 94005 AC005726,CH471159,CQ834886,AB057723,AF161427,AK025825,AK055512,AK075428,AK127162,AK297046,AK314583,AW084841,AY359112,BC001319,BC007301,BC069228,BX640839,DA591284,NM_033198 NP_149975,EAW51099,EAW51100,EAW51101,EAW51102,EAW51103,CAH05658,BAB60853,AAF28987,BAB70938,BAC11615,BAG54444,BAG59572,BAG37159,AAQ89470,AAH01319,AAH07301,AAH69228,CAE45912,Q6MZW5,Q8NBL9,Q96IR5,Q96NG1,Q96S52,Q9BVC1,Q9P073 Hs.462550 DKFZp686K20216|FLJ45226 GPI transamidase component PIG-S|GPI transamidase subunit|OTTHUMP00000163434|phosphatidylinositol glycan, class S|phosphatidylinositol-glycan biosynthesis class S protein protein-coding 1316180 PIGT phosphatidylinositol glycan anchor biosynthesis, class T This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq] 1580863 11483512,15713669,1846368,16516892,16344560,16303743,15489334,12975309,12655644,12582175,12477932,12052837,11780052,11549316,11483580,10810093,9373149,8125298,16169070 51604 AK302093,AK311100,AK311416,AK311492,AK311520,AK311522,AK316358,AL121742,AY358588,BC015022,BC110892,BC136827,BC136828,BX537612,AK301815,NM_015937,AL021578,CH471077,CS051295,AB057724,AF132940,AF305815,AK075469,AK225517,AK293294,AK293686,AK296063,AK296139,AK297830,AK299013,CR593007,CR600435,CR602801,CR604599,CR605919,CR608489,CR614867,CR619784,CR620597,DA037291,DC399420,NM_001184728,NM_001184729,NM_001184730 BAH13561,BAH13624,BAH14729,CAB57341,AAQ88951,AAH15022,AAI10893,AAI36828,AAI36829,CAD97799,NP_057021,CAC18110,CAC36338,CAC36339,EAW75841,EAW75842,EAW75843,EAW75844,EAW75845,EAW75846,CAI72142,BAB60854,AAD27715,AAK55518,BAC11639,BAH11487,BAH11569,BAH12247,BAH12267,BAH12673,BAH12928,Q969N2,Q96JR8,NP_001171657,NP_001171658,NP_001171659 Hs.437388 CGI-06|FLJ41596|MGC8909|NDAP GPI transamidase component PIG-T|GPI transamidase subunit|neurotrophin-regulated neuronal development-associated protein|phosphatidyl inositol glycan class T|phosphatidylinositol glycan, class T|phosphatidylinositol glycan, class t|phosphatidylinositol-glycan biosynthesis class T protein protein-coding 1352875 PIGU phosphatidylinositol glycan anchor biosynthesis, class U The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq] 1580863 12802054,1846368,11483512,15034568,18488026,16303743,15489334,14660601,12975309,12477932,11780052,20224305,21048031 128869 NM_080476,NG_011497,AL118520,CH471077,AB086842,AK075507,AK301900,AK308627,AY339061,AY358816,AY422169,BC030512,CR591905,CR610914,CR624769 NP_536724,CAC14080,CAI40292,EAW76259,EAW76260,EAW76261,EAW76262,BAC53626,BAC11660,BAG63328,AAQ18022,AAQ89175,AAR23798,AAH30512,Q9H490,ACE87291,ACE86610 Hs.253319 CDC91L1|GAB1|MGC40420 CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1|GPI transamidase component PIG-U|GPI transamidase subunit|cell division cycle 91-like 1 protein|cell division cycle protein 91-like 1|phosphatidylinositol glycan anchor biosynthesis class U protein|protein CDC91-like 1 protein-coding 1349310 PIGV phosphatidylinositol glycan anchor biosynthesis, class V Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. The biosynthetic pathway of GPI is mediated by sequential addition of sugars and other components to phosphatidylinositol. PIGV adds the second mannose to the GPI core (Kang et al., 2005 [PubMed 15623507]).[supplied by OMIM] 1580863 15623507,15720390,11102867,16710414,15489334,14702039,12477932,9373149,8125298,20802478 55650 CR599392,CR609465,CR625962,NM_017837,AL034380,CH471059,CQ834324,CQ834446,CQ834448,AK000484,AK056539,AK225521,AK301626,BC013568 Q9NUD9,NP_060307,CAB92120,CAI21625,CAI21626,CAI21627,EAX07790,EAX07791,EAX07792,CAH05377,CAH05438,CAH05439,BAA91196,BAG63111,AAH13568 Hs.259605 FLJ20477|RP1-50O24.2 GPI mannosyltransferase 2|GPI mannosyltransferase II|GPI-MT-II|PIG-V|phosphatidylinositol glycan, class V|phosphatidylinositol-glycan biosynthesis class V protein protein-coding 1352879 PIGW phosphatidylinositol glycan anchor biosynthesis, class W Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol (Murakami et al., 2003 [PubMed 14517336]).[supplied by OMIM] 1299613,1580863 14517336,11102867,14702039,12714589 1299613 284098 NM_178517,AC126327,CH471199,AB097818,AK094752,AC233700 NP_848612,EAW57563,EAW57564,BAC77021,BAC04413,Q7Z7B1,AAI56434,AAI60092,AAI72479 Hs.378885 FLJ37433|Gwt1 OTTHUMP00000164081|PIG-W|phosphatidylinositol glycan, class W|phosphatidylinositol-glycan biosynthesis class W protein protein-coding 1343989 PIGX phosphatidylinositol glycan anchor biosynthesis, class X Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGX is a subunit of a GPI mannosyltransferase complex involved in the synthesis of the core GPI structure in the endoplasmic reticulum (ER) (Ashida et al., 2005 [PubMed 15635094]).[supplied by OMIM] 8889548,11102867,15635094,15489334,15146197,14702039,12477932,17207965 54965 NM_001166304,BU740645,NM_017861,AC055725,CH471191,AA879458,AK000529,AK294340,BC022542,BG715890,BQ130655,CN404010 NP_001159776,NP_060331,EAW53638,EAW53640,BAA91233,BAG57610,AAH22542,Q8TBF5,ADQ31691 Hs.223296 FLJ20522 GPI-mannosyltransferase subunit|OTTHUMP00000208256|PIG-X|phosphatidylinositol-glycan biosynthesis class X protein protein-coding 1605909 PIGY phosphatidylinositol glycan anchor biosynthesis, class Y This gene encodes two proteins, one of which is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. Two open reading frames have been found in the single transcript that has been identified for this gene. The downstream open reading frame encodes the GPI-GnT complex protein while the upstream open reading frame encodes a protein with unknown function. [provided by RefSeq] 16162815,20877624,15489334,12477932 84992 NM_001042616,NM_032906,AC083829,AB206972,AK312082,BC007876,CR594961,CR597093,CR597941,CR599419,CR600628,CR608763,CR612575,DB519150 NP_001036081,NP_116295,BAE44507,BAG35018,AAH07876,Q3MUY2,Q96I23 Hs.26136 MGC14156|PIG-Y|PREY phosphatidylinositol N-acetylglucosaminyltransferase subunit Y|phosphatidylinositol glycan, class Y|phosphatidylinositol-glycan biosynthesis class Y protein|protein preY, mitochondrial protein-coding 1602097 PIGZ phosphatidylinositol glycan anchor biosynthesis, class Z The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq] 15208306,15489334,14702039,12655644,12477932,12200473,11356840 80235 NM_025163,AC011322,CH471191,AK022830,AK296867,BC018804,BC044640,CR601084 NP_079439,EAW53618,BAB14263,BAG59430,AAH44640,Q86VD9 Hs.518403 FLJ12768|GPI-MT-IV|MGC52163|SMP3 GPI mannosyltransferase 4|GPI mannosyltransferase IV|OTTHUMP00000208161|OTTHUMP00000208162|PIG-Z|SMP3 homolog|SMP3 mannosyltransferase|hSMP3|phosphatidylinositol glycan, class Z|phosphatidylinositol-glycan biosynthesis class Z protein protein-coding 1347899 PIH pregnancy-induced hypertension (pre-eclampsia, eclampsia, toxemia of pregnancy included) 1550119 5285 1605995 PIH1D1 PIH1 domain containing 1 16189514,15670595,12477932,8889549,20801936,21078300,17636026,17643375,19450687,17207965 55011 NM_017916,AC010619,CH471177,AA018444,AK000650,AK294687,AK304476,BC001108,CR591090,CR592919,CR595455,CR597787,CR599690,CR605095,CR606142,CR606627,CR611670,CR620618,CR626084,DC385084 NP_060386,EAW52486,EAW52487,BAA91307,BAG57848,BAG65289,AAH01108,Q9NWS0,ACE87086,ADQ31733 Hs.5245 FLJ20643|NOP17 PIH1 domain-containing protein 1|nucleolar protein 17 homolog protein-coding 1605009 PIH1D2 PIH1 domain containing 2 12477932,8889548,16712791,17207965 120379 NM_138789,NM_001082619,AP000907,CH471065,AI339257,BC019238,CA312666,CB159963,CR622263,AK300496 NP_620144,NP_001076088,EAW67177,AAH19238,Q8WWB5,ADQ32663,BAG62210 Hs.420662 PIH1 domain-containing protein 2 protein-coding 1317115 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 1251844,16381901,15893754,15489336,14702039,12477932,11230166,11163197,11076863,16385451,20197460 118788 NM_152309,AL138765,AL358235,AL591364,CH471066,AI826732,AK092883,AK122584,AK125635,BC029917,BX648550,CB990570,CR610410 NP_689522,CAI13586,CAH73441,EAW49968,EAW49969,BAC03996,BAC56925,BAC86227,AAH29917,Q6ZUJ8,Q86YV3,CAL37947,CAH71154,CAI13581 Hs.310456 BCAP|RP11-34E5.3 1810044J04Rik|B cell adaptor protein|B-cell adapter for phosphoinositide 3-kinase|B-cell phosphoinositide 3-kinase adapter protein 1|OTTHUMP00000020176|phosphoinositide 3-kinase adapter protein 1 protein-coding 1321266 PIK3C2A phosphoinositide-3-kinase, class 2, alpha polypeptide The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq] 1580863 17110375,17038310,16215232,15183893,14729612,14602571,14563213,12719431,12477932,12237112,12077252,11994280,11606566,11306805,11239472,11156964,11154208,10805725,10766823,10329640,9708406,9603905,9446795,9394803,8798481,17157319,16524887,9808187,15689238,12960231,12551992,16081599,9341793,10641798,9337861,19591801,19261849,18403640,17644513,17148452,19615732,20197460,20379614,20416519,20453000,20562859 5286 NM_002645,A89694,AC116533,AC126389,CH471064,AK294416,AK299474,AK304262,AK309610,AK310248,AL049998,AL832699,BC031681,BC040952,BC113658,BX648778,Y13367,EU332862 NP_002636,CAB69383,EAW68447,BAG57666,BAG61438,BAG65126,AAI13659,CAA73797,O00443,ABY87551,ADR83442 Hs.175343 CPK|DKFZp686L193|MGC142218|PI3-K-C2(ALPHA)|PI3-K-C2A C2-containing phosphatidylinositol kinase|PI3K-C2-alpha|PI3K-C2alpha|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha|phosphoinositide 3-kinase-C2-alpha|ptdIns-3-kinase C2 subunit alpha protein-coding 1315215 PIK3C2B phosphoinositide-3-kinase, class 2, beta polypeptide The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq] 1580863 19496756,19536175,19587117,20197460,20379614,16314532,16271833,16113997,14602571,14563213,12477932,12372612,12356726,12077252,11994280,11533253,11156964,11154208,9708406,9446795,9394803,9223670,9144573,8798481,8681137,8084603,17157319,16524887,9808187,15689238,12960231,12551992,16710414,9830063,10805725,17474147,18996102,16775008,16081599,9341793,15778465,19913121,20602615,20628086 5287 NM_002646,AL606489,CH471067,AB210006,AK308153,BC094741,BC132876,BC136645,BC144342,CR608190,CR749201,F17716,Y11312,Y13892,EU332863 NP_002637,CAI16571,CAI16572,CAI16573,CAI16574,EAW91513,EAW91514,BAE06088,AAI32877,AAI36646,AAI44343,CAH18059,CAA72168,CAA74194,O00750,Q4LE65,Q5SW97,Q5SW98,Q68E11,ABY87552 Hs.497487 C2-PI3K|DKFZp686G16234 PI3K-C2-beta|PI3K-C2beta|PTDINS-3-kinase C2 beta|phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit beta|phosphoinositide 3-kinase-C2-beta|ptdIns-3-kinase C2 subunit beta protein-coding 735800 PIK3C2G phosphoinositide-3-kinase, class 2, gamma polypeptide The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The biological function of this gene has not yet been determined. [provided by RefSeq] 1580863 20602615,9878262,18996102,17991425,17893707,14602571,12477932,12077252,11994280,11156964,11154208,9708406,9516481,9514948,9446795,9394803,8798481,16081599,17157319,16524887,9808187,15689238,12960231,12551992,9341793 5288 NM_004570,AC087236,AC087240,AC091815,AC092851,CH471094,AI478164,AJ000008,BC130277,BC144133,BC144134,BX092808 NP_004561,EAW96387,CAA03853,AAI30278,AAI44135,O75747 Hs.22500 MGC163149|PI3K-C2GAMMA PI3K-C2-gamma|PTDINS-3-kinase C2 gamma|phosphatidylinositol 3-kinase C2 domain-containing gamma|phosphatidylinositol 3-kinase, c2 domain containing, gamma polypeptide|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit gamma|phosphoinositide 3-kinase-C2-gamma|ptdIns-3-kinase C2 subunit gamma protein-coding 732994 PIK3C3 phosphoinositide-3-kinase, class 3 1300048,4889529 20602615,20671926,20562859,17589504,19359265,19887755,20453000,18774718,7628435,7504174,14751759,18996102,18957027,18755982,18725540,18649358,18420347,18077426,18048384,17319803,16874027,16390869,16176982,16049009,15489334,15324660,15121481,14702039,14617358,14602571,12925680,12477932,12077252,11994280,11156964,11154208,9708406,9446795,9394803,8999962,8889548,8798481,16081599,17157319,16524887,9808187,15689238,12960231,12551992,9341793,12660731,20643123,20529838 4889529 5289 NM_002647,AC087683,CH471088,AK022653,AK090567,AK298517,AK308364,BC010388,BC033004,BC053651,BI562123,CA945171,Z46973 NP_002638,EAX01426,BAG60721,AAH33004,AAH53651,CAA87094,Q8NEB9,ABM92169,ABM84638 Hs.464971 MGC61518|VPS34|hVps34 PI3-kinase type 3|PI3K type 3|PtdIns-3-kinase type 3|phosphatidylinositol 3-kinase|phosphatidylinositol 3-kinase catalytic subunit type 3|phosphatidylinositol 3-kinase p100 subunit protein-coding 1352691 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. [provided by RefSeq] 2313763,2290458,2290476,1580863,4143515 20551053,20619739,2174051,10648629,12167717,12660731,19603024,19573809,19487299,19440000,19420344,19418217,19383818,19380724,19366826,19351817,19349352,19330652,19305151,19272638,19261849,19240718,19237633,19234438,19233141,19223544,19196980,19172191,19164214,19148475,19143676,19076977,19064572,19029981,19029838,19027487,19012001,19003996,18996102,18990689,18980969,18951408,18852163,18835245,18829572,18798071,18794883,18794094,18782444,18769113,18757405,18691552,18679714,18676830,18669866,18660489,18641990,18621636,18516290,18503601,18449193,18418043,18382359,18371219,18355852,18343945,18335034,18317450,18285463,18270270,18262558,18224685,18221484,18216097,18193083,18183466,18181165,18180098,18097548,18084252,18079394,18074223,18070887,18064631,18029348,18022911,18000091,17990317,17986027,17982280,17971428,17947469,17942548,17936563,17924977,17923698,17877460,17875942,17855350,17827385,17803655,17681398,17673550,17669465,17657213,17635910,17601799,17590872,17586693,17575221,17549376,17546593,17507466,17487277,17471559,17468516,17449641,17426084,17377809,17376864,17341442,17317825,17314276,17307335,17235514,17219054,17202311,17141917,17062663,17060456,17052259,17050665,17006756,16968743,16949921,16930767,16885334,16840732,16839745,16837650,16822308,16820791,16815198,16790501,16788758,16778113,16775835,16764926,16728507,16682946,16627990,16618717,16582596,16569657,16533766,16522324,16432179,16406609,16397024,16380997,16376301,16353168,16344560,16341083,16339315,16339173,16322209,16317585,16288007,16287065,16203798,16168105,16150444,16150119,16114017,16034135,15994075,15950905,15930273,15928251,15924253,15837735,15805248,15784156,15712344,15647370,15632060,15605984,15520168,15489334,15467468,15289301,15254419,15016963,14729945,14602571,12704201,12477932,12077252,11994280,11959846,11912194,11676480,11334418,11278864,11156964,11154208,10921882,10490823,10358930,10213474,9916799,9708406,9446795,9415396,9394803,9150145,9113989,9043658,8798481,8702949,8665852,8020561,7929193,7820549,7713498,1322797,16524887,17157319,9808187,15689238,12960231,12551992,16081599,9341793,10985305,12584329,12526811,11289809,17369495,17363507,10208934,9247029,8636073,14583609,8246987,10357815,11969417,16354680,14724584,10783161,11577104,12754211,12893243,12954600,12890670,15213298,8641358,10608806,11606067,15834429,15664519,20495538,20691427,20813970,20824703,20860430,20881644,20937558,20940279,21035469,21048031,21051183,21072204,10949031,19701705,20167866,20713702,19845664,20514448,20379197,20557351,20616362,21123564,20699365,19913121,20569675,20571907,20589678,20602615,20622004,20628086,20652941,20736745,20813562,20416519,10620012,10803462,11279232,11353842,12538664,15940673,16043515,17222361,17237249,19276248,19394761,19440799,19443396,19584164,19608668,19633047,19638206,19654299,19671852,19679877,19685490,19686742,19704056,19706770,19735264,19789314,19789368,19805105,19815551,19818761,19822807,19826477,19839777,19844234,19844788,19853286,19861897,19891769,19898424,19903786,19903845,20008098,20022634,20028853,20056178,20098682,20101210,20103642,20107891,20130133,20177704,20186503,20237496,20308328,20308428,20331378,20398348,20407443,20413299,20416077,20447721,20453000,20479250,20493625,20508983,20526288,19411071 2313763,2290458,2290476,4143515 5290 NM_006218,NG_012113,AC076966,CH471052,AB210020,AK292940,AK297203,AK302608,AU129890,AW445128,BC113601,BC113603,BQ228953,BX437219,BX473473,BX484734,DQ910907,U79143,Z29090,GM752103,GM865566 NP_006209,EAW78423,BAE06102,BAF85629,BAG59688,BAG63856,AAI13602,AAI13604,ABI95433,AAB39753,CAA82333,P42336,Q4LE51,CAT16714,CAV28702 Hs.85701,Hs.553498 MGC142161|MGC142163|PI3K|p110-alpha PI3-kinase p110 subunit alpha|PI3-kinase subunit alpha|PI3K-alpha|PtdIns-3-kinase p110|phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha|phosphatidylinositol 3-kinase, catalytic, alpha polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit, alpha isoform|ptdIns-3-kinase subunit alpha|ptdIns-3-kinase subunit p110-alpha protein-coding 732496 PIK3CB phosphoinositide-3-kinase, catalytic, beta polypeptide Phosphoinositide 3-kinases (PI3Ks) phosphorylate the 3-prime OH position of the inositol ring of inositol lipids. They have been implicated as participants in signaling pathways regulating cell growth by virtue of their activation in response to various mitogenic stimuli. PI3Ks are composed of a 110-kD catalytic subunit, such as PIK3CB, and an 85-kD adaptor subunit (Hu et al., 1993 [PubMed 8246984]).[supplied by OMIM] 1580861,1300048,2290458,1580863 19913121,9708406,9446795,9394803,8798481,8246984,8139559,7479742,2174051,16524887,17157319,9808187,15689238,12960231,12551992,16081599,9341793,15834429,15664519,20691427,21030680,20602615,20628086,10570282,12660731,19097921,18996102,18755892,18558630,18398029,18372911,18327411,18285463,17986385,17977952,17676480,17522703,16432180,16380997,16339315,16091017,15582274,15489334,15468162,15242975,14602571,12529960,12507995,12502714,12502677,12477932,12077252,12029088,11994280,11916960,11752399,11676480,11459796,11156964,11154208,10358930,9822674,12167717,14968112,19380768,19700402,19815551,20056178,20058239,20103642,20107106,20331378,20508983,10949031,21123564 1580861,2290458 5291 NM_006219,AC020890,AC117389,AJ297549,CH471052,AK293754,AK302937,BC003393,BC022049,BC114432,CR749357,S67334 NP_006210,CAC21449,EAW79053,EAW79054,EAW79055,EAW79056,BAG57175,BAG64095,AAH03393,AAH22049,AAI14433,CAH18210,AAB29081,P42338,Q68DL0,Q6PJ60,Q9BTS4 Hs.239818 DKFZp779K1237|MGC133043|P110BETA|PI3K|PI3KBETA|PIK3C1 OTTHUMP00000216901|OTTHUMP00000216904|PI3-kinase p110 subunit beta|PI3-kinase subunit beta|PI3K-beta|PtdIns-3-kinase p110|phosphatidylinositol 3-kinase, catalytic subunit, beta isoform|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta isoform|ptdIns-3-kinase subunit beta|ptdIns-3-kinase subunit p110-beta protein-coding 1322205 PIK3CD phosphoinositide-3-kinase, catalytic, delta polypeptide Phosphoinositide 3-kinases (PI3Ks) phosphorylate the 3-prime OH position of the inositol ring of inositol lipids. See MIM 602838. The class I PI3Ks display a broad phosphoinositide lipid substrate specificity and include p110-alpha (MIM 171834), p110-beta (MIM 602925), and p110-gamma (MIM 601232). p110-alpha and p110-beta interact with SH2/SH3-domain-containing p85 adaptor proteins (see MIM 171833) and with GTP-bound Ras.[supplied by OMIM] 2290458,1580863 19913121,20602615,20628086,11739523,19357769,19638627,20056178,20081091,20103642,20197460,20381852,19843950,20189103,20534549,9708406,9455486,9446795,9394803,8889549,8798481,16524887,9808187,15689238,17157319,12960231,12551992,16081599,9341793,10922060,16169070,12774123,9235916,17474147,9113989,18996102,18471882,18348712,18281552,17581634,17290298,17015696,16984281,16432180,15878979,15840695,15146197,14602571,12594293,12477932,12077252,11994280,11156964,11154208,10064595,10949031 2290458 5293 NG_023434,AL691449,CH471130,AB208835,AK303425,AK314191,BC030263,BC132919,BC132921,BC144264,BC150297,CN313981,DQ263594,NM_005026,DQ263595,DQ263596,U57843,U86453,W30913,Y10055 NP_005017,CAI15702,CAI15703,EAW71622,EAW71623,EAW71624,EAW71625,EAW71626,EAW71627,BAD92072,BAG64476,BAG36870,AAI32920,AAI32922,AAI44265,AAI50298,ABB83814,ABB83815,ABB83816,AAB53966,AAC25677,CAA71149,O00329,O00334,Q1WIQ9,Q1WIR0,Q59HC4,Q5SR50 Hs.518451 P110DELTA|PI3K|p110D OTTHUMP00000001596|PI3-kinase p110 subunit delta|PI3-kinase subunit delta|PI3K-delta|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform|phosphoinositide-3-kinase C|ptdIns-3-kinase subunit delta|ptdIns-3-kinase subunit p110-delta protein-coding 1315103 PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide This gene encodes a protein that belongs to the pi3/pi4-kinase family of proteins. The gene product is an enzyme that phosphorylates phosphoinositides on the 3-hydroxyl group of the inositol ring. It is an important modulator of extracellular signals, including those elicited by E-cadherin-mediated cell-cell adhesion, which plays an important role in maintenance of the structural and functional integrity of epithelia. In addition to its role in promoting assembly of adherens junctions, the protein is thought to play a pivotal role in the regulation of cytotoxicity in NK cells. The gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. [provided by RefSeq] 1641794,1642432,1642429,1642433,1642394,1580863 20627085,7624799,11136978,19574958,19492417,19492075,19445727,19427038,19376889,19339247,19323811,19303157,19269083,19261616,19229860,19224914,19223576,19211763,19211028,19192227,19179443,19152965,19103290,19086053,19079138,19078992,19059380,19058789,19017490,19011679,18996102,18983267,18973553,18945831,18844239,18824170,18810319,18771702,18769058,18766172,18728784,18725974,18722093,18720410,18711316,18678286,18675921,18663085,18652687,18632611,18625725,18615538,18603327,18593948,18587247,18558630,18552129,18546844,18535744,18520805,18515365,18511807,18502332,18499442,18495460,18469852,18467332,18458059,18451140,18451027,18434090,18395956,18374639,18338817,18299320,18273051,18245521,18201823,18187452,18079201,18060476,18025271,17998459,17971428,17942603,17901375,17900864,17878755,17868340,17855501,17724079,17716861,17681345,17658464,17646933,17551921,17515959,17497700,17459875,17410437,17375124,17303701,17302605,17290298,17286201,17235455,17173040,17158252,17126402,17045571,17008323,17001038,16943418,16772787,16533525,16527821,16507111,16432180,16430866,16328013,16325767,16291747,16286246,16219695,16204373,16094730,15993382,15932879,15901830,15878979,15845472,15797027,15741161,15733066,15678501,15668028,15611065,15582274,15558024,15543611,15496972,15489334,15326564,15046613,15044087,15001544,14622970,14605879,14602571,14583609,13130092,12853948,12757856,12690205,12606772,12551992,12545160,12529294,12507995,12502714,12477932,12473596,12464013,12435806,12242282,12163475,12115604,12077252,11994280,11861293,11756422,11756194,11577104,11416136,11259422,11238738,11156964,11154208,10972292,10816567,10580505,10579793,10542052,10488142,10386953,10358071,10318860,9708406,9507010,9446795,9446654,9394803,8798481,8313897,7520444,16524887,9808187,15689238,17157319,12960231,16081599,9341793,9113989,12774123,9747873,8641358,7606002,10571082,15664519,20560677,20620179,20671123,20685403,20810749,10871282,18479604,19062713,19415692,19421146,19427341,19428048,19437103,19454653,19457236,19471547,19472218,19473116,19473971,19525225,19531027,19533041,19541408,19549714,19553005,19553815,19567200,19567590,19570915,19572978,19588500,19609946,19615732,19621391,19636556,19660434,19711039,19723646,19726747,19734303,19786618,19787273,19801192,19801633,19801684,19815050,19820697,19835871,19855431,19889638,19903888,19917135,19924283,19940129,19966853,20003467,20009532,20011604,20018188,20018937,20030877,20056178,20062086,20086095,20088406,20089415,20107185,20150971,20157617,20157769,20164468,20166697,20195717,20237496,20331378,20453000,20488790,20508983,20513426,20526338,9915850,20505158,20224967,20852826,20855526,20375364,20361045,20672329,20870746,18194602,19615795,20412587,19897009,20089844,20145951,20226014,20458733,20530239,20602615,20606682,20809254,20354121,20204404,20512574,20124452,20368287,20562859,20805333,20811632,20432929,20800603 1641794,1642432,1642429,1642433,1642394 5294 NM_002649,AC005018,CH236947,CH471070,AF327656,AK292684,AK313753,AY496423,BC035683,BX648341,X83368 NP_002640,AAQ96873,EAL24396,EAW83387,EAW83388,EAW83389,AAG61115,BAF85373,AAS75801,AAH35683,CAA58284,P48736,Q24M88 Hs.32942 PI3CG|PI3K|PI3Kgamma|PIK3 1-phosphatidylinositol 3-kinase|PI3-kinase subunit gamma|PI3K-gamma|p110-gamma|p120-PI3K|phosphatidylinositol 3 kinase gamma, p110 gamma|phosphatidylinositol 3-kinase catalytic 110-kD gamma|phosphatidylinositol 3-kinase, catalytic, gamma polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma isoform|phosphoinositide-3-kinase gamma catalytic subunit|ptdIns-3-kinase subunit gamma|ptdIns-3-kinase subunit p110-gamma protein-coding 1605305 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 18632611,17475214,16303743,15489334,15461802,15340161,14702039,12529303,12477932,10591208,8889548,19088825 113791 NM_001135911,AC002073,CH471095,AF528079,AF528080,AK074688,AK093768,AK226089,AK299397,AK300990,NM_052880,AW005175,BC011049,BC041903,BE299406,BQ718653,BU681979,CR456340,CR599785,CR607511,CR608796,CR612099,CR612619,CR623813,CR626709,DC412134,GU135609 NP_443112,NP_001129383,AAB54054,EAW59960,EAW59961,EAW59962,EAW59963,EAW59964,AAO33762,AAO33763,BAC11140,BAG61381,BAG62609,AAH11049,AAH41903,CAG30226,Q96FE7,ACZ26468 Hs.26670 HGFL|MGC17330|hHGFL(S) OTTHUMP00000199501|kringle domain-containing protein HGFL|phosphoinositide-3-kinase-interacting protein 1 protein-coding 731958 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq] 2301729,2290476,1642762,2299174,2290458,1625212,1625220,1625262,1625218,737788,1625215,1625216,737789,1625211,1299201,4108483,4108492,4108481,4108490,4108507,2307338,4108502 19913121,20602615,20628086,10572067,8440175,7537849,8276809,7541045,14699157,7782332,8052599,18029348,9356464,10648629,11606067,12167717,12660731,19482007,19454690,19351817,19336760,19218574,18996102,18990689,18974049,18660489,18534979,18418043,18372911,18335044,18328427,18249389,18245521,18227218,18079394,17890432,17827393,17570359,17486587,17442886,17404186,17302605,17242406,17242350,17214991,17038539,17016694,17013094,17006756,16921024,16844778,16787925,16644730,16491394,16412560,16377635,16306077,16289966,16230374,16228294,16168140,15951569,15932879,15910625,15872086,15826941,15809724,15741161,15629149,15536084,15490304,15489334,15388330,15351743,15324660,15192701,15127203,15117958,15016818,15007072,14769856,14729945,14702039,14602571,14597629,14551916,12933816,12878163,12774123,12714585,12668683,12644569,12637493,12588990,12582030,12538575,12529960,12477932,12454018,12397383,12393736,12359715,12220227,12210743,12186904,12185156,12173038,12112020,12107746,12086876,9852124,9801792,9774657,9774384,9708406,9687533,9632636,9610355,9564850,9489702,9461588,9461587,9446795,9446654,9435577,9394803,9381982,9373149,9360994,9312149,9178903,9178760,9139718,9113989,9079809,9032108,8962058,8961927,8947469,8918688,8918464,8916957,8798481,8766817,8702949,8702385,8697095,8670861,8662998,8649427,8648629,8647200,8631888,8628286,8621719,8621607,8599763,8394019,8385099,8384556,8313897,8253717,8246987,8139559,8125298,8034624,7807015,7759531,7737969,7737275,7681364,7662955,7642542,7629060,7592789,7559499,7537362,7537275,7537265,7528218,7522165,7513258,7509796,7504174,1849461,1648445,1383690,1381348,1372092,1351056,1336372,1314371,2174051,16524887,15689238,9892650,12052866,12029088,12009866,11994280,11986952,11940581,11912194,11865050,11855827,12077252,11850823,11842213,11812000,11741599,11739737,11716761,11711534,11689561,11689445,11604231,11567151,11546794,11526404,11375989,11341978,11337495,11313349,11278378,11163197,11156964,11154208,11136977,11133830,11094073,11087752,11071869,11029009,10995743,10970851,10967104,10921882,10899172,10806474,10799562,10797305,10768093,10723796,10697503,10652352,10627473,10542297,10527852,10521483,10477752,10467411,10459020,10455176,10437794,10383151,10377409,10373529,10358930,10358777,10339567,10212255,10187839,10097090,10086340,10068651,10022833,9918857,7657594,7876130,7689724,8388538,12470648,8603569,17157319,12960231,12551992,16081599,10422873,10358157,9123823,9808187,9341793,15638726,14965316,12734410,11689886,18374639,9891995,9658397,8596638,9223670,8084603,10022120,9614102,12594831,11287610,10426994,11782427,11334882,12074588,10579793,8294442,11071635,12730242,9150145,9268059,9162069,7982920,16717100,11431473,11368773,9334184,8910607,8805332,10487518,11160222,7537361,7929193,12704201,8641358,15735664,8810341,7689147,17207965,20713702,10871282,11445578,12538664,14968112,16043515,16219545,16638574,16843263,16917505,17474147,17626883,18711014,19286672,19304514,19578796,19634059,19635806,19639178,19640849,19747165,19807924,19885597,19962665,20056178,20212113,20237496,20379614,20407443,7642581,9234717,20530665,20936779,20800603 2301729,2290476,1642762,2299174,2290458,1625212,1625262,1625218,737788,1625215,1625216,737789,1625211,1299201,4108483,4108492,4108481,4108490,4108507,2307338,4108502 5295 BC094795,BE888150,BQ723333,CA427864,CB216668,M61906,U49349,NM_181524,NM_181504,AC016564,CH471137,AF279367,AI124626,AI334281,AK000121,AK094785,AK126345,AK223613,AK294919,AK299743,AW630519,BC030815,NM_181523,NG_012849 AAH30815,AAH94795,AAB04140,P27986,NP_852664,NP_852665,NP_852556,EAW51311,EAW51312,EAW51313,AAO15359,BAG52931,BAG54309,BAD97333,BAH11924,BAH13115,ADQ32177 Hs.132225,Hs.604502 GRB1|p85|p85-ALPHA PI3-kinase regulatory subunit alpha|PI3-kinase subunit p85-alpha|PI3K regulatory subunit alpha|phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha|phosphatidylinositol 3-kinase regulatory subunit alpha|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)|phosphatidylinositol 3-kinase, regulatory, 1|phosphatidylinositol 3-kinase-associated p-85 alpha|ptdIns-3-kinase regulatory subunit alpha|ptdIns-3-kinase regulatory subunit p85-alpha protein-coding 1345924 PIK3R1OS phosphoinositide-3-kinase, regulatory subunit 1, opposite strand 404543,404543 L26969,L30106 Hs.132225 phosphoinositide-3-kinase, regulatory subunit 1, opposite strand|phosphoinositide-3-kinase, regulatory subunit, polypeptide 1, opposite strand protein-coding 68478 PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 2290458,1580863 20936779,17157319,12960231,12551992,16081599,9341793,11350939,11133830,9178903,16729043,12470648,15107835,12029088,12660731,18660489,18534979,18420583,17881440,15951569,15826941,15592455,15536084,15489334,15324660,15117958,15057824,14602571,12477932,12077252,12052866,11994280,11172806,11160222,11156964,11154208,11120660,10594015,10459020,10022833,9708406,9651378,9582025,9446795,9435577,9394803,9228082,9178760,9113989,9092574,8798481,8662998,8080844,7982920,7629144,7592789,7559478,7541045,7537096,7509360,2174051,1334406,1314371,16524887,10422873,10358157,9123823,9808187,15689238,20598684,20653952,11353842,12167717,12730242,17024187,19286672,19336760,19635806,19747165,19846673,19915146,10949031,20515662 2290458 5296 NM_005027,AC007192,CH471106,BC011917,BC014170,BC032647,BC070082,BC090249,X80907 NP_005018,AAD22671,EAW84659,EAW84660,AAH11917,AAH14170,AAH32647,AAH70082,AAH90249,CAA56868,O00459,Q96CK7,Q96EV4 Hs.371344 P85B|p85|p85-BETA OTTHUMP00000198082|PI3-kinase regulatory subunit beta|PI3-kinase subunit p85-beta|PI3K regulatory subunit beta|phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta|phosphatidylinositol 3-kinase regulatory subunit beta|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta)|phosphoinositide-3-kinase, regulatory subunit 2 (p85 beta)|phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta)|ptdIns-3-kinase regulatory subunit beta|ptdIns-3-kinase regulatory subunit p85-beta protein-coding 1353925 PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 2290458,1580863 9524259,8647200,18029348,17452746,17360667,14702039,12588990,12477932,10417350,9415396,9178903,8619474,7542745,16189514,12470648,11172806,10949031,15001646,20197460,20379614 2290458 8503 NM_001114172,AL358075,CH471059,AF028785,AK123886,AK302049,AK304713,AK313726,BC005381,BC021622,BC094768,BX507484,BX537388,CR749649,D88532,NM_003629,U90907,Y13809 NP_003620,NP_001107644,CAI21701,CAI21702,CAI21703,EAX06943,EAX06944,EAX06945,EAX06946,EAX06947,AAC39696,BAG63440,BAG65477,BAG36468,AAH05381,AAH21622,CAD97630,CAH18443,BAA13636,CAB52195,Q05DQ0,Q5T4P3,Q68CY7,Q7Z3W2,Q8N381,Q92569,Q9UMI3,ABM82715,ABM85897,ACE87620,ACE86933 Hs.655387 DKFZp686P05226|FLJ41892|p55|p55-GAMMA 100% homology to SWISS-PROT Q92569|OTTHUMP00000009783|OTTHUMP00000009784|PI3-kinase regulatory subunit gamma|PI3-kinase subunit p55-gamma|PI3K regulatory subunit gamma|p55PIK|phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma|phosphatidylinositol 3-kinase regulatory subunit gamma|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 3 (p55, gamma)|phosphoinositide-3-kinase, regulatory subunit 3 (p55, gamma)|phosphoinositide-3-kinase, regulatory subunit, polypeptide 3 (p55, gamma)|ptdIns-3-kinase regulatory subunit gamma|ptdIns-3-kinase regulatory subunit p55-gamma protein-coding 1323457 PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 1580863,4889529 20643123,8999962,14751759,18957027,15489334,15342556,15324660,12686597,12477932,12388762,20562859,12660731,19270696 4889529 30849 NM_014602,AC097105,AC128683,CH471052,AK314219,BC009899,BC017332,BC057239,BC069191,BC110318,BC127105,BC127106,BP359657,Y08991,FB775516 NP_055417,EAW79222,BAG36893,AAI10319,AAI27106,AAI27107,CAA70176,Q99570,CAV30715 Hs.149032 MGC102700|VPS15|p150 PI3-kinase p150 subunit|PI3-kinase regulatory subunit 4|phosphatidylinositol 3-kinase-associated p150|phosphoinositide 3-kinase adaptor protein|phosphoinositide 3-kinase regulatory subunit 4|phosphoinositide-3-kinase, regulatory subunit 4, p150 protein-coding 1346928 PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 Receptor-regulated class I phosphoinositide 3-kinases (PI3Ks) phosphorylate the membrane lipid phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to PtdIns(3,4,5)P3, which in turn recruits and activates cytosolic effectors involved in proliferation, survival, or chemotaxis. PIK3R5 is a PI3K regulatory subunit (Brock et al., 2003 [PubMed 12507995]).[supplied by OMIM] 737633,1580863 20056178,20379614,7624799,10488142,10358071,12477932,19453261,17486067,15797027,15611065,15489334,12507995 737633 23533 EU332864,NM_014308,AC002091,AC003695,CH471108,AB028925,AF128881,AK309074,AK314186,AY725851,AY725852,AY725853,AY725854,NM_001142633,BC028212 ABY87553,NP_001136105,NP_055123,EAW90035,EAW90036,EAW90037,BAB82464,AAD33397,AAW63121,AAW63122,AAW63123,AAW63124,AAH28212,Q8WYR1 Hs.278901 F730038I15Rik|FOAP-2|P101-PI3K|p101 OTTHUMP00000135339|PI3-kinase p101 subunit|PI3-kinase regulatory subunit 5|phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit|phosphoinositide 3-kinase regulatory subunit 5|phosphoinositide-3-kinase, regulatory subunit 5, p101|phosphoinositide-3-kinase, regulatory subunit, polypeptide p101|protein FOAP-2|ptdIns-3-kinase p101|ptdIns-3-kinase regulatory subunit protein-coding 1353016 PIK3R6 phosphoinositide-3-kinase, regulatory subunit 6 Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. [provided by RefSeq] 18596232,18323525,16476736,16344560,15797027,14702039,12477932,12507995,7624799 146850 NM_001010855,AC003695,AC009451,CH471108,AK091819,AL833037,AY753192,BC110301,BC125169,DA585264 NP_001010855,EAW90038,EAW90039,EAW90040,EAW90041,BAG52421,CAH56340,AAV30085,AAI25170,Q5UE93,AAI66645 Hs.255809 C17orf38|DKFZp666P158|FLJ34500|HsT41028|p84|p87(PIKAP)|p87PIKAP PI3Kgamma adapter protein of 87 kDa|chromosome 17 open reading frame 38|p87 PI3K adapter protein|p87 phosphoinositide 3-kinase gamma (PI3Kg) adapter protein|phosphoinositide 3-kinase gamma adapter protein of 87 kDa|phosphoinositide 3-kinase regulatory subunit 6 protein-coding 1313818 PIKFYVE phosphoinositide kinase, FYVE finger containing PIP5K3 belongs to a large family of lipid kinases that alter the phosphorylation status of intracellular phosphatidylinositol. Signaling by phosphorylated species of phosphatidylinositol regulates diverse cellular processes, including membrane trafficking and cytoskeletal reorganization (Shisheva et al., 1999 [PubMed 9858586]).[supplied by OMIM] 11714711,17556371,18304842,19037259,19582903,19840946,19841139,19852935,19910676,20041238,20193073,20379614,15046600,17909029,14551253,16954148,16448788,19232516,18950639,19056739,18501703,17570343,17146146,17081983,15902656,15592455,15542851,15144186,14702039,14530284,12607114,12477932,12270933,11706043,10231032,16801682,18429927,18774718,17207965 200576 NM_152671,AC012362,AC016697,CH471063,AB023198,AK091482,AK127769,AL122124,AY457063,BC017736,BC032389,NM_015040,NG_021188,NM_001178000,BC035705,BC125052,BC125053,BG287802,BX640810,CR620960,CR624088 NP_055855,NP_689884,AAY14870,AAX93222,EAW70444,EAW70445,EAW70446,EAW70447,EAW70448,EAW70449,BAA76825,BAC03674,BAC87123,AAR19397,NP_001171471,Q6ZS32,Q9Y2I7,AAI56452,AAI72527,AAH32389,AAI25053,AAI25054,Q08AR7,ADQ31819 Hs.726291 CFD|FAB1|FLJ37746|KIAA0981|MGC40423|PIP5K|PIP5K3 1-phosphatidylinositol-3-phosphate 5-kinase|OTTHUMP00000198101|OTTHUMP00000198102|PIPkin-III|phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III|type III PIP kinase protein-coding 1318381 PILRA paired immunoglobin-like type 2 receptor alpha Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq] 10660620,18358807,10903717,19457990,19244335,18097101,15489334,15085135,12690205,12477932 29992 NM_013439,NM_178272,NM_178273,AC005071,CH236956,CH471091,AF161080,AJ400841,AJ400842,AJ400843,AK298731,BC017812,BF432841 NP_038467,NP_840056,NP_840057,EAL23835,EAL23836,EAL23837,EAW76542,EAW76543,EAW76544,EAW76545,AAD52964,CAC01613,CAC01614,CAC01615,BAG60881,AAH17812,Q9UKJ1 Hs.444407 FDF03 OTTHUMP00000207542|cell surface receptor FDF03|inhibitory receptor PILR-alpha|inhibitory receptor PILRalpha|paired immunoglobin-like receptor alpha|paired immunoglobulin-like receptor alpha|paired immunoglobulin-like type 2 receptor alpha protein-coding 1603396 PILRB paired immunoglobin-like type 2 receptor beta Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the non-ITIM-bearing member of the receptor pair, which has a truncated cytoplasmic tail relative to its ITIM-bearing partner and functions in the activating role. Alternative splicing has been observed at this locus and three variants, encoding two distinct isoforms, are described. Additional transcript variants have been identified but their full-length nature has not been determined. [provided by RefSeq] 10660620,16926269,17207965,15498874,15489334,14702039,12477932,11181995,10903717,14667819,15381729,10327049,11812650,9632768,16344560 29990 NM_178238,AC005071,CH236956,CH471091,AF161081,AF217981,AJ400845,AJ400846,AK056412,AK074039,AK298676,AK310352,AL834317,AL834336,BC040122,BC050547,DQ851871,DQ851872,DQ851874,DQ851875,DQ851876,DQ851877,DQ851878,DQ851879,DQ851880,DQ851881,DQ851883,DQ851885,AA908333,DB275512,NR_036569,NR_036570,CS538134 NP_839956,EAW76546,EAW76547,EAW76548,EAW76549,EAW76550,EAW76551,EAW76552,EAW76553,EAW76554,EAW76555,EAW76556,EAW76557,AAD52965,AAG17224,CAC19193,CAC19194,BAG51701,BAB84865,BAG60840,CAH10714,CAH10711,AAH50547,Q8TET2,Q9UKJ0,ADQ33053,CAM84960 Hs.632314 FDFACT1|FDFACT2 OTTHUMP00000207806|OTTHUMP00000207866|OTTHUMP00000207942|OTTHUMP00000207943|OTTHUMP00000210926|activating receptor PILR-beta|activating receptor PILRbeta|cell surface receptor FDFACT|cell surface receptor FDFACT1|cell surface receptor FDFACT2|paired immunoglobin-like receptor beta|paired immunoglobulin-like receptor beta|paired immunoglobulin-like type 2 receptor beta protein-coding 737516 PIM1 pim-1 oncogene The protooncogene PIM1 encodes a protein kinase upregulated in prostate cancer (Dhanasekaran et al., 2001 [PubMed 11518967]).[supplied by OMIM] 1580863 18519946,18467333,18426800,18216297,18037896,17855660,17643117,17560648,17487358,17476282,17448597,17327400,17313559,16712793,16684349,16647097,16508102,16403219,16356754,16344560,16266891,16227208,16221667,15808862,15798097,15721354,15657054,15528381,15525646,15489334,15471855,15319445,15264249,14981536,13679438,12680209,12477932,12431783,12411508,12111331,12036885,11823475,11591366,18596907,18593906,11518967,11460166,11368509,11279102,11237709,10931201,20811681,20958956,20639905,1825810,16186805,18056989,2682662,19573080,19345670,19336552,19266083,19152965,18775810,18768389,18708761,18695914,18676680,10664448,10373478,9809063,3475233,3429489,3329709,2837645,2205533,1427894,16169070,20215828,18426646,19003546,19170196,19568408,19625176,19688129,19692168,19734423,19773279,19878356,19911008,20032391,20075333,20191609,20203306,20237496,20663873,20544717,20587610 5292 NM_002648,AF386792,AL353579,CH471081,M27903,AK301158,AK301314,AK309347,BC020224,CR591847,DA434260,DA481890,DQ022562,M16750,M24779,M54915 NP_002639,AAK70871,CAI20316,EAX03934,EAX03935,AAA60090,BAG62748,BAG62865,AAH20224,AAY87461,AAA60089,AAA81553,AAA36447,P11309 Hs.81170 PIM Oncogene PIM1|pim-1 kinase 44 kDa isoform|pim-1 oncogene (proviral integration site 1)|proto-oncogene serine/threonine-protein kinase pim-1|proviral integration site 1 protein-coding 1347613 PIM2 pim-2 oncogene PIM2 belongs to a family of protooncogenes that encode serine/threonine protein kinases (Mikkers et al., 2004 [PubMed 15199164]).[supplied by OMIM] 1580863 20592892,9804974,18675992,18593906,18424697,18216297,18029348,16403219,16015593,15721354,15548703,15489334,15291354,15199164,12954615,12477932,16169070,16189514,20098747,19821157,20465571,11854514,16548883,16713569,19841674 11040 NM_006875,AB042425,AF207550,CH471224,CQ834174,CQ834176,AK290931,AK312745,BC018111,CR595611,CR600151,DC378253,U77735,HI179046,NG_016262 NP_006866,BAA95613,EAW50729,EAW50730,CAH05302,CAH05303,BAF83620,AAH18111,AAC78506,Q9P1W9,ABM82262,ABM85444,CBX53832 Hs.726382 pim-2h|proto-oncogene Pim-2 (serine threonine kinase)|serine/threonine protein kinase pim-2|serine/threonine-protein kinase pim-2 protein-coding 1344275 PIM3 pim-3 oncogene PIM3 belongs to a family of protooncogenes that encode serine/threonine protein kinases (Mikkers et al., 2004 [PubMed 15199164]).[supplied by OMIM] 737633,1580863 19266083,19154409,18593906,16403219,15540201,15489334,15199164,12798037,12477932,10713710,17270021,20101231 737633 415116 NM_001001852,BX539320,CH471138,CR536608,AB114795,AK292005,BC017083,BC052239,BC064477,BC141855,CT000425,DB482257 NP_001001852,CAO03581,EAW73485,CAO03523,BAD42438,BAF84694,AAH64477,AAI41856,Q6P2J9,Q86V86,AAI40031 Hs.530381 pim-3 serine/threonine kinase Pim-3|serine/threonine-protein kinase pim-3 protein-coding 1321121 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 The human PIN1 gene encodes an essential nuclear peptidylprolyl cis-trans isomerase (PPIase; EC 5.2.1.8) involved in regulation of mitosis. PIN1 belongs to a class of PPIases that includes the E. coli parvulin, yeast Ess1, and Drosophila dodo (dod) gene products (Lu et al., 1996 [PubMed 8606777]).[supplied by OMIM] 1580863 16384626,16273101,16227615,16189514,16169070,16139797,16124054,16123044,16095818,16024801,15964795,15950321,15867923,15701524,15664191,15489334,15474361,15175157,15111319,14967043,14702039,14690596,14572447,14559993,12881709,12792768,12721297,12686540,12579289,12540053,12477932,12410395,12397362,12397361,12388558,12153046,12101225,11988841,11978535,11940573,11787050,11774038,11741599,11575923,11533658,11432833,11356192,10939594,20009523,10037602,11470801,19122240,10391244,8606777,19625347,19458071,19439498,19338781,19288014,19287979,19158244,19151708,19084525,19077306,18844375,18794148,18684817,18676833,18676680,18635547,18294451,18188456,18062707,18039859,18007120,18006688,17938171,17906639,17766376,17681194,17626162,17624454,17482359,17468107,17466629,17393110,17355867,17334375,17317113,17316687,17163675,17082615,16972081,16907857,16865250,16820873,16713569,16701948,16697218,16476580,16449657,16428447,10888662,10504341,10393805,9482729,9299231,9200606,8552658,17670986,9499405,11604498,11326318,10932246,17353931,11805292,16118204,16223725,16554819,17129455,17347650,17878917,19168580,19170196,19565466,19584057,19592546,19597489,19625176,19638580,19668231,19681904,19682092,19692168,19846884,19855176,19904610,19909517,19920136,19940183,19996102,20033770,20060900,20110589,20173753,20179103,20179161,20180533,20376080,19885590,20479004,20580132,20529865,20675384,20622153 5300 AC008752,AF501321,CH471106,AF086512,AK092970,AK097558,AK291074,BC002899,BC031971,BI827520,BT019331,CR407654,NM_006221,CR599044,CR608466,CR625469,U49070 NP_006212,AAM81970,EAW84057,EAW84058,EAW84059,BAG53486,BAF83763,AAH02899,AAH31971,AAV38138,CAG28582,AAC50492,Q13526,Q49AR7,Q8NFL2,ABM83904,ABM87225 Hs.465849 DOD|UBL5 PPIase Pin1|peptidyl-prolyl cis-trans isomerase NIMA-interacting 1|peptidyl-prolyl cis-trans isomerase Pin1|peptidyl-prolyl cis/trans isomerase, NIMA-interacting|prolyl isomerase|protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1|protein (peptidyl-prolyl cis/trans isomerase) nima-interacting 1|protein (peptidylprolyl cis/trans isomerase) NIMA-interacting 1|rotamase Pin1 protein-coding 1354255 PIN1L peptidylprolyl cis/trans isomerase, NIMA-interacting 1-like (pseudogene) 16710414,9299231 5301 NR_023916,AL391728,AK314840,U82382 BAG37358,AAB81333 Hs.654711 PIN1L protein (peptidyl-prolyl cis/trans isomerase) nima-interacting 1-like pseudo 1347401 PIN1L2 protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1-like 2 5109 1348368 PIN3 protein, NIMA-interacting 3 8606777 5302 1345088 PIN4 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 1580863 10100858,10364457,17875217,16522211,15489334,12860119,12477932,12144781,11960984,11337467,11162102,10966801,16169070,20029029,19369196 5303 AF143096,AK127605,AU098526,BC005234,BC070288,BC093700,BC104653,BC112281,BC111394,AB009690,NM_006223,AL135749,BX119917,CH471213,AV709926,BE504461,BU952002,NG_016328,NM_001170747,NR_033187 BAA82320,AAD27893,BAG54532,AAH05234,AAH70288,AAH93700,AAI11395,AAI12282,Q5HYW4,Q9Y237,AAI04654,NP_006214,CAI39855,CAI39856,EAW71812,ADR83479,NP_001164218 Hs.655623 EPVH|MGC138486|PAR14|PAR17 OTTHUMP00000023527|OTTHUMP00000217483|OTTHUMP00000217485|PPIase PIN4|eukaryotic parvulin homolog|hEPVH|hPar14|hPar17|parvulin-14|parvulin-17|peptidyl-prolyl cis-trans isomerase NIMA-interacting 4|peptidyl-prolyl cis-trans isomerase Pin4|peptidyl-prolyl cis/trans isomerase EPVH|protein (peptidyl-prolyl cis/trans isomerase) nima-interacting, 4 (parvulin)|rotamase PIN4 protein-coding 1314001 PINK1 PTEN induced putative kinase 1 This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq] 2290300 20637729,14607334,15087508,19492085,19405094,19358826,19285945,19279012,19276113,19270741,19242547,17960343,17950257,17766179,17724286,17707122,17579517,17567565,17557243,17362513,17219214,17202228,17172567,17154281,17141510,17084972,17055324,17017532,17013904,17000703,16969854,16966503,16805805,16769864,16710414,16700027,16672981,16632486,16547921,16482571,16354302,16257123,16226715,16207731,16157901,16079129,16046032,16009891,15970950,15955954,15955953,15876334,15824318,15596610,15542245,15505171,15505170,15489334,15349870,15349860,15349859,14702039,12548371,12548343,12477932,12447943,11494141,11254447,20971498,19229105,19224617,19205068,19167501,19152501,19139432,19087301,19076428,19048950,19006224,18973254,18957282,18785233,18704525,18685134,18584234,18560593,18546294,18541801,18524835,18495756,18486522,18469032,18397367,18378882,18359116,18330912,18307263,18286320,18272063,18261714,18211709,18068301,18031932,18003639,17989306,20506312,20842103,20508036,20558144,19038850,19214605,19330279,19351622,19500570,19562775,19692353,19726410,19822161,19847793,19880420,19889566,19890973,19904588,19944740,20012177,20034704,20045449,20098416,20146068,20153330,20164189,20171192,20179104,20356854,20376796,20379614,20399249,20404107,20461815,20483373,20513816,20877624 2290300 65018 NM_032409,NG_008164,AL391357,CH471134,AB053323,AF316873,AK075225,AK130746,BC009534,BC028215,CR597726,CR601045,HH961852 NP_115785,CAH73475,EAW94934,EAW94935,BAB55647,AAK28062,BAC11484,AAH09534,AAH28215,Q9BXM7,ABM81959,ABM84256,ABM85138,ABM87645,CBX51399 Hs.389171 BRPK|FLJ27236|PARK6 PTEN-induced putative kinase protein 1|protein kinase BRPK|serine/threonine-protein kinase PINK1, mitochondrial protein-coding 1606271 PINX1 PIN2-interacting protein 1 20544396,20620128,15489334,15381700,15044100,14984932,14702039,12508358,12477932,12439923,12107183,11701125,16169070,17353931,11003615,19393617,19265708,19117989,18784941,15637589,18029348,19553660,20056641,20379614,21060863,20367640 54984 NM_017884,AC011008,AC105001,AY262278,CH471157,AF205718,AF418553,AJ344104,AK313715,AY238941,AY523566,BC015479,BC043573,BC093762,BC143382,CR591056,CR601705,CR620063 NP_060354,AAP12532,EAW65595,EAW65596,EAW65597,AAG18009,AAN31333,CAC51436,BAG36458,AAP37006,AAS19507,AAH15479,AAH93762,Q96BK5 Hs.490991,Hs.583894 FLJ20565|LPTL|LPTS|MGC8850 67-11-3 protein|PIN2 interacting protein 1|PIN2-interacting protein 1|PIN2/TERF1-interacting telomerase inhibitor 1|TRF1-interacting protein 1|hepatocellular carcinoma-related putative tumor suppressor|liver-related putative tumor suppressor|pin2-interacting protein X1|protein 67-11-3 protein-coding 1604809 PION pigeon homolog (Drosophila) 16341674,14702039,12690205,12477932,20811458 54103 NM_017439,AC004921,AC073635,CH236949,AK026696,AK026747,AK027188,AK126364,AL079277,AL079297,AL834358,BC101499,BC110797,BC143549,BM842423,DB498013 NP_059135,EAL24201,CAB45152,CAB45193,CAD39023,AAI01500,AAI43550,A4D1B5 Hs.186649 DKFZp667B242|GSAP|MGC126548 gamma-secretase-activating protein|protein pigeon homolog protein-coding 1351325 PIP prolactin-induced protein 1580863 2013294,17353931,19650845,19262752,18930737,18251583,16740002,15489334,12755619,12690205,12477932,11992405,11133986,10820003,10713110,9218538,9074931,3667631,2727805,1955075,15632136,10072505,9724097,19217055,19615732,19620839 5304 NM_002652,AC093659,CH236959,CH471198,X51501,AK312227,BC010950,BC010951,CD723133,J03460,Y10179 NP_002643,EAL23781,EAW51887,CAA35870,BAG35160,AAH10950,AAH10951,AAA60091,CAA71252,P12273 Hs.99949 GCDFP-15|GCDFP15|GPIP4 SABP|gross cystic disease fluid protein 15|prolactin-inducible protein|secretory actin-binding protein protein-coding 734348 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq] 1580863 7639683,19328558,18545987,18364242,18314871,17555944,17410640,16823801,16801950,16094259,15489334,15164054,15046600,14702039,14614854,14614850,14582145,12509423,12477932,9367159,8869744,7852364,7629060,20583997,16385451,19475563,19644675,19656170,19937977,20379614,21041608 5305 NM_005028,AL157707,AL390318,AL513128,CH471072,AK023329,AK294817,AK294867,BC018034,CR616529,DB504104,S78798,U14957,EF445009 NP_005019,CAI39583,CAI39584,CAI39585,CAH70526,CAH72211,EAW86140,EAW86141,BAG57933,BAG57970,AAH18034,AAB35041,AAA64835,P48426,ACA06044,ACA06045 Hs.57079 FLJ13267|PI5P4KA|PIP5K2A|PIP5KII-alpha|PIP5KIIA|PIPK 1-phosphatidylinositol-4-phosphate kinase|1-phosphatidylinositol-4-phosphate-5-kinase|1-phosphatidylinositol-5-phosphate 4-kinase 2-alpha|PI(5)P 4-kinase type II alpha|PIP4KII-alpha|PIP5KIII|PIP5KIIalpha|PtdIns(4)P-5-kinase B isoform|diphosphoinositide kinase 2-alpha|phosphatidylinositol-4-phosphate 5-kinase, type II, alpha|phosphatidylinositol-5-phosphate 4-kinase type-2 alpha|ptdIns(4)P-5-kinase C isoform|ptdIns(5)P-4-kinase isoform 2-alpha|type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform protein-coding 736672 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq] 9038203,17303380,16713569,15489334,15046600,14691457,14614850,12477932,12136098,9843587,9753329,9367159 8396 NM_003559,AC006449,AJ331087,CH471152,AI333549,AK307169,BC027459,BC073896,BC094858,BM991982,BT019614,CR590530,U85245 NP_003550,EAW60532,EAW60533,EAW60534,EAW60535,EAW60536,AAH27459,AAV38420,AAB48596,P78356 Hs.260603 PI5P4KB|PIP5K2B|PIP5KIIB|PIP5KIIbeta 1-phosphatidylinositol-4-phosphate kinase|1-phosphatidylinositol-5-phosphate 4-kinase 2-beta|PI(5)P 4-kinase type II beta|PIP4KII-beta|PTDINS(4)P-5-kinase|diphosphoinositide kinase 2-beta|phosphatidylinositol-4-phosphate 5-kinase, type II, beta|phosphatidylinositol-5-phosphate 4-kinase type-2 beta|ptdIns(5)P-4-kinase isoform 2-beta protein-coding 733243 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 1580863 18255255,15046600,12477932,9373149,9367159,8125298,14614850,18794853,19644859,20439292 79837 NM_024779,NM_001146258,NM_001146259,NM_001146260,AC022506,CH471054,AI167420,AK025708,AK075553,AK125526,AK225343,AK225685,AK297243,AK302254,AK315588,BC028596,BX419431,CR617906 NP_079055,NP_001139730,NP_001139731,NP_001139732,EAW97031,BAB15223,BAG52165,BAG54209,BAG59723,BAG63606,BAG37960,AAH28596,Q8TBX8,ABM85608,ABW03741 Hs.144502 FLJ22055|PIP5K2C PI(5)P 4-kinase type II gamma|PIP4KII-gamma|phosphatidylinositol-4-phosphate 5-kinase, type II, gamma|phosphatidylinositol-5-phosphate 4-kinase type-2 gamma protein-coding 1314561 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 1580863 8955136,19331818,19158393,18981107,18534983,18073347,17567994,17496116,16979564,16710414,16344560,15870270,15489334,12682053,12477932,10828584,14701839,11032811,10589680,10747863,18288197,18305108,20426790,11042212,14614850,14614854,15046600,15157668,16169070,20660631,18029348 8394 NM_001135636,NM_001135637,NM_001135638,AL592424,CH471121,AF085856,AK291015,AK295691,NM_003557,AK302268,AK309826,BC007833,CR596609,DA759212,DQ656041,U78575,U78576,U78577,U78578 NP_003548,NP_001129108,NP_001129109,NP_001129110,CAI16386,CAI16387,CAI16388,CAO72043,CAO72045,EAW53459,EAW53460,EAW53461,BAF83704,BAG58542,BAG63614,AAH07833,AAC50910,AAC50911,AAC50912,AAC50913,P78517,Q99755 Hs.655131,Hs.707569 68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha|OTTHUMP00000196331|PIP5K1-alpha|PIP5KIalpha|phosphatidylinositol-4-phosphate 5-kinase type-1 alpha|ptdIns(4)P-5-kinase 1 alpha protein-coding 1322093 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 20442317,20624912,8955136,17353931,18158329,15489334,15164053,15046600,14701839,14614850,12477932,9177790,8841185,7581382,19553680,19850283,20379614,20383146 8395 AL162730,AL354794,AL356219,CH471089,U52387,AK292734,AK295587,BC030587,U78579,U78580,U78581,NM_003558 NP_003549,CAH71831,CAI12622,CAI12623,CAI12624,CAI12625,CAI14092,CAI14093,CAI14094,CAI14095,EAW62465,EAW62466,EAW62467,AAC51327,BAF85423,BAG58479,AAH30587,AAC50914,AAC50915,AAC50916,O14986,Q7KYT4,Q7KYT6,ABM81800,ABM84956 Hs.534371 MSS4|STM7 OTTHUMP00000021423|PIP5K1-beta|PIP5KIbeta|phosphatidylinositol-4-phosphate 5-kinase type-1 beta|protein STM-7|ptdIns(4)P-5-kinase 1 beta|type I phosphatidylinositol-4-phosphate 5-kinase beta protein-coding 1320550 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma This gene encodes a member of the type I phosphatidylinositol-4-phosphate 5-kinase family of enzymes. A similar protein in mice is found in synapses and focal adhesion plaques, and binds the FERM domain of talin through its C-terminus. [provided by RefSeq] 1580863 18073347,17928408,17701898,17635937,17261850,17229424,16880396,16707488,15611330,15057824,15046600,14614850,12847086,12682053,12477932,12422220,12422219,11604140,10827173,9628581,9535851,14701839,20668706,20074374,20435073,16169070,17290217,19548880,19903820 23396 NG_012161,AC004637,AC005542,AC093071,CH471139,AB011161,AK301309,AK315912,BC004149,BC011138,CR607553,NM_012398,DC389567,FJ965537,NM_001195733,R46767,FJ965536 NP_036530,AAC15471,AAC32904,EAW69295,EAW69296,BAA25515,BAG62861,BAH14283,O60331,Q7LE22,AAI67798,ACS73484,NP_001182662,ACS73483 Hs.282177 KIAA0589|LCCS3|PIP5K-GAMMA|PIP5Kgamma|PIPKIg_v4 Human homolog of mouse phosphatidylinositol-4-phosphate 5-kinase I-gamma|PIP5K1-gamma|PIP5KIgamma|diphosphoinositide kinase|phosphatidylinositol-4-phosphate 5-kinase type-1 gamma|ptdIns(4)P-5-kinase 1 gamma|type I PIP kinase protein-coding 1351926 PIP5K1L1 phosphatidylinositol-4-phosphate 5-kinase, type I-like 1 12477932 100101438 AL365510,BC068549,NG_006440 Hs.149255 MGC87444|bA429H9.1 pseudo 2804371 PIP5K1P1 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 12477932 206426 AK312819,AL096800,BC028580,NR_027712 ABM82500,ABM85694,BAG35676 Hs.676966 MGC26597 pseudo 3184211 PIP5K1P2 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2 100129824 NG_023450,AF027390,CH236954 pseudo 1346757 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase-like 1 PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM] 737633,1580863 17207965,14701839,12477932,19680787 737633 138429 NM_001135219,NM_173492,AL157935,CH471090,BC042184,BE881330 ADQ32978,NP_001128691,NP_775763,CAI12614,CAM14148,EAW87722,EAW87723,EAW87724,EAW87725,EAW87726,EAW87727,EAW87728,AAH42184,Q5T9C9 Hs.445486 MGC46424|PIPKH|RP11-203J24.5|bA203J24.5 PI(4)P 5-kinase-like protein 1|phosphatidylinositol phosphate kinase homolog|phosphatidylinositol-4-phosphate 5-kinase-like protein 1|ptdIns(4)P-5-kinase-like protein 1 protein-coding 1322755 PIPOX pipecolic acid oxidase 1580863 10642506,15489334,14702039,12477932,11330064,10931946,10772957,20634891,16169070 51268 NM_016518,AC024619,CH471159,AF134593,AF136970,AK022773,AK027498,BC008960,BC027622,C21024,CR457155 NP_057602,EAW51168,EAW51169,AAF37331,AAG49431,BAG51332,AAH08960,AAH27622,CAG33436,Q6IAJ9,Q8N6Z6,Q9P0Z9,ABM87537,ABW03898 Hs.462585 LPIPOX L-pipecolate oxidase|L-pipecolic acid oxidase|PSO|peroxisomal sarcosine oxidase protein-coding 1602824 PIPSL PIP5K1A and PSMD4-like This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq] 17623810,16344562,15489334,15164054,12477932,20525901 266971 NR_002319,AL365510,BC068549 CAM19360 Hs.149255 FLJ33990|MGC87444|PIP5K1L1|PIP5K1P3|PSMD4P2|bA429H9.1 pseudo 1342511 PIR pirin (iron-binding nuclear protein) This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq] 737633,1580863 19766747,20010624,20089166,10362352,9079676,15951572,15489334,15231748,14573596,12876364,12477932,20711196 737633 8544 NM_003662,NM_001018109,NG_012549,AC095351,AC097625,CH471074,U75931,AK309656,BC002517,BT019583,BT019584,CR541822,CR590557,CR596849,CR599849,CR605821,CR608851,CR615023,Y07867,Y07868 NP_003653,NP_001018119,EAW98886,EAW98887,EAW98888,AAH02517,AAV38390,AAV38391,CAG46621,CAA69194,CAA69195,O00625,Q6FHD2,ABM82867,ABM86054 Hs.495728 pirin protein-coding 3539788 PIRT phosphoinositide-interacting regulator of transient receptor potential channels 11181995,14702039,18455988 644139 AC015908,AK021549,AK299808,CH471108,DC332889,NM_001101387 BAH13134,EAW89989,NP_001094857,P0C851 Hs.553909 phosphoinositide-interacting protein|phosphoinositide-interacting regulator of TRPV1 protein-coding 1352965 PISD phosphatidylserine decarboxylase Phosphatidylserine decarboxylases (PSDs; EC 4.1.1.65) catalyze the formation of phosphatidylethanolamine (PE) by decarboxylation of phosphatidylserine (PS). Type I PSDs, such as PISD, are targeted to the inner mitochondrial membrane by an N-terminal targeting sequence. PISD also contains a conserved LGST motif that functions as an autocatalytic cleavage site where the proenzyme is split into mature alpha and beta subunits (Schuiki and Daum, 2009 [PubMed 19165886]).[supplied by OMIM] 1580863 19165886,17478478,16381901,16192276,15790807,15489336,15489334,15461802,12477932,11256614,11076863,10591208,9110174,8870646,8619474,16169070,20877624 23761 AL096768,CH471095,AF035304,AF086277,AK298474,AY927618,BC001482,BC009315,CR456540,CR596708,CR603600,CR608013,CR610646,CR611660,CR615708,CR616159,CR624548,NM_014338,AL050371 CAI23031,CAI23032,CAX14855,NP_055153,CAB56394,CAI23033,CAM28331,CAM28332,CAM28333,EAW59984,EAW59985,EAW59986,EAW59987,EAW59988,EAW59989,EAW59990,EAW59991,AAB88186,BAG60685,AAH01482,AAH09315,CAG30426,Q9UG56,CAB43678,CAL38509,CAK54571,CAK54870,ABM86382,ABW03791,ABW03477 Hs.420559 DJ858B16|DKFZp566G2246|PSD|PSDC|PSSC|dJ858B16.2 OTTHUMP00000063300|OTTHUMP00000063301|OTTHUMP00000194755|phosphatidylserine decarboxylase proenzyme protein-coding 1354329 PISRT1 polled intersex syndrome regulated transcript 1 homolog (goat) 140464 AF404302 1352423 PITPNA phosphatidylinositol transfer protein, alpha Phosphatidylinositol transfer protein is a member of a diverse set of cytosolic phospholipid transfer proteins that are distinguished by their ability to transfer phospholipids between membranes in vitro (Wirtz, 1991 [PubMed 1883207]).[supplied by OMIM] 1580863 8194769,17353931,7914867,18029348,17672918,15489334,15322105,12621583,12477932,11923101,9230105,9169461,8999962,8541325,8255295,7761838,1883207,15182174,20471030,17207965,16244667 5306 NM_006224,AC100748,CH471108,AK303986,AL117644,AL542612,BC027177,BC045108,BC068538,BC082976,CR598414,CR607575,CR609028,CR623147,CR624385,D30036,M73704,NG_013017 NP_006215,EAW90610,EAW90611,EAW90612,BAG64903,AAH45108,AAH68538,AAH82976,BAA06276,AAA36441,Q00169,Q6NUL6,ADQ32152 Hs.429819 MGC99649|PI-TPalpha|PITPN|VIB1A PI-TP-alpha|phosphatidylinositol transfer protein alpha isoform|ptdIns transfer protein alpha|ptdInsTP alpha protein-coding 736239 PITPNB phosphatidylinositol transfer protein, beta The protein encoded by this gene is found in the cytoplasm, where it catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. [provided by RefSeq] 1580863 20332109,8541325,18029348,16780419,15489334,15461802,15231748,14702039,12477932,12023904,10591208,1883207 23760 NM_012399,AL031591,CH471095,AK123384,AK302367,AK313064,BC018704,BC031427,BU147254,CA435279,CR456541,CR611905,CR618965,CR623086,CR624392,D30037 CAQ68294,CAQ68295,CAQ68296,NP_036531,CAB63033,EAW59743,EAW59744,EAW59745,BAG53898,BAH13686,BAG35893,AAH18704,AAH31427,CAG30427,BAA06277,P48739,CAK54572,CAK54871 Hs.705323 PI-TP-beta|PtdInsTP|VIB1B PtdIns transfer protein beta|phosphatidylinositol transfer protein beta isoform|phosphotidylinositol transfer protein, beta|ptdInsTP beta protein-coding 1312467 PITPNC1 phosphatidylinositol transfer protein, cytoplasmic 1 This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein transfers phosphatidylinositol from one membrane compartment to another. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 10531358,16189514,15345747,14702039,12477932,12401207,8889548,19060904 26207 NM_181671,NM_012417,AC079331,AC110921,CH471099,AF171102,AK094724,AK290838,AK307138,BC007905,BC067095,BM678261,BC037261 NP_858057,NP_036549,EAW89030,EAW89031,EAW89032,AAF06148,BAF83527,AAH07905,AAH67095,Q9UKF7 Hs.591185,Hs.696160 RDGB-BETA|RDGBB|RDGBB1 M-rdgB beta|cytoplasmic phosphatidylinositol transfer protein 1|mammalian rdgB homolog beta|mrdgBbeta|rdgBbeta|retinal degeneration B beta 1|retinal degeneration B homolog beta protein-coding 1315482 PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM] 1580863 9245688,9680295,17090528,17081983,16344560,15723057,15627748,15545272,15489334,15302935,15125835,12477932,12225667,12077336,11909959,10022914,1903119 9600 NM_004910,NM_001130848,AP001184,CH471076,AA465501,AF334584,AK126944,AK312886,AY429102,BC022230,DA318858,X98654 NP_004901,NP_001124320,EAW74638,EAW74639,EAW74640,EAW74641,EAW74642,EAW74643,AAK01444,BAG54406,BAG35734,AAR06909,AAH22230,CAA67224,O00562,ABM82109,ABW03364 Hs.372295 DRES9|FLJ44997|NIR2|PITPNM|RDGB|RDGB1|RDGBA|RDGBA1|Rd9 NIR-2|PITPnm 1|PYK2 N-terminal domain-interacting receptor 2|drosophila retinal degeneration B homolog|membrane-associated phosphatidylinositol transfer protein 1|retinal degeneration B alpha 1 protein-coding 1322017 PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM] 1580863 10022914,18029348,15627748,12522145,12477932,10819331 57605 NM_020845,AC026362,AC073857,CH471054,AB040890,AF334585,AK026156,AL133612,BC025360,BC040063,BC050567,BC141813 NP_065896,EAW98383,EAW98384,EAW98385,EAW98386,BAA95981,AAK01445,CAB63741,AAI41814,Q9BZ72,Q9UF51 Hs.272759 KIAA1457|NIR3|RDGB2|RDGBA2 NIR-3|PITPnm 2|PYK2 N-terminal domain-interacting receptor 3|membrane-associated phosphatidylinositol transfer protein 2|retinal degeneration B alpha 2 protein-coding 1317841 PITPNM3 PITPNM family member 3 PITPNM3 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM] 1580863 10022914,18188949,17377520,15627748,12477932,20590364 83394 AI333030,NM_031220,AC055872,CH471108,AB209130,AF334586,AK297617,AL389994,BC020484,BC035799,BC128583,BC128584,NG_016020,NM_001165966 NP_112497,EAW90304,EAW90305,BAD92367,AAK01446,BAH12631,CAB97544,AAI28584,AAI28585,Q9BZ71,NP_001159438 Hs.183983 CORD5|MGC157740|MGC157741|NIR1|RDGBA3 NIR-1|PITPnm 3|PYK2 N-terminal domain-interacting receptor 1|membrane-associated phosphatidylinositol transfer protein 3|phosphatidylinositol transfer protein, membrane-associated 3|retinal degeneration B alpha 3 protein-coding 1322218 PITRM1 pitrilysin metallopeptidase 1 1580863 9733512,16849325,18029348,18951430,15489334,15164054,14702039,12477932,10470851,10360838,9373149,8889549,8125298,1036083,20877624,16385451,19196155,19724895,19851296,19962426,20198315 10531 BX649017,AL451164,CH471072,AA132969,AB029027,AF061243,AK001183,AK002061,AK023476,AK225084,AK293788,AK294865,AK299464,AK303406,AK315117,AL117409,BC001150,BC005025,BC045577,BC095422,BC111987,BC113369,BG720390,BI766649,BM737694,NM_014889,CB529735,CD692197,CR598931,CR611859,CR749279 NP_055704,CAI39994,CAI39995,CAI39996,CAI39997,CAI39998,CAI40001,EAW86490,EAW86491,EAW86492,EAW86493,BAA83056,AAC67244,BAG50863,BAG51008,BAG51199,BAG57201,BAG57968,BAG61430,BAG64460,AAH01150,AAH05025,AAH95422,AAI11988,AAI13370,CAH18134,Q5JRX3,Q68DT6 Hs.528300 KIAA1104|MGC138192|MGC141929|MP1|PreP|hMP1 OTTHUMP00000018976|PreP peptidasome|hPreP|metalloprotease 1 (pitrilysin family)|pitrilysin metalloproteinase 1|presequence protease, mitochondrial protein-coding 733838 PITX1 paired-like homeodomain 1 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq] 1580863 20498720,20634891,8755540,15960973,20563669,9070926,19414376,18950742,18391951,18186570,18053270,17984056,17762884,17549029,17081983,16291394,16189514,15489334,15372022,12915995,12620797,12477932,12223489,11048804,10372733,10369682,10082522,9343431,9337397,9186059,18029348,20054692 5307 NM_002653,NG_012114,AC004764,AC008406,AF009648,AF009649,AF009650,CH471062,CS278249,AK290635,AL578756,BC003685,BC009412,BX362641,CR601326,CR603120,CR610821,U70370 NP_002644,AAC17733,AAB65251,EAW62226,EAW62227,CAJ86537,BAF83324,AAH03685,AAH09412,AAC51126,P78337,ABZ92176 Hs.84136 BFT|CCF|POTX|PTX1 OTTHUMP00000223125|hindlimb expressed homeobox protein backfoot|hindlimb-expressed homeobox protein backfoot|homeobox protein PITX1|paired-like homeodomain transcription factor 1|pituitary homeo box 1|pituitary homeobox 1|pituitary otx-related factor protein-coding 731390 PITX2 paired-like homeodomain 2 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 737814,1580863 20211142,20881294,20478579,15385555,9708732,9618168,19233404,19174163,19052653,18946986,18775326,18711169,18616618,18331556,18312615,17850355,17603472,17558846,17486624,17197537,17167399,17065505,16936096,16876867,16834779,16638984,16498627,16449236,16274491,15895993,15728254,15591271,15489334,15466416,15255117,14975719,14630904,12732450,12612071,12477932,12464179,12381896,12223489,12130547,11948188,11821690,11774072,11763998,11487566,11157981,10372733,10051017,9685346,9539779,17965955,9437321,8944018,8942889,7581385,1303248,16884686,19218601,19251162,19513095,19597492,19801652,19954729,20022124,20170812,20173747,20332099,19913121,20628086,20634891 737814 5308 NM_153426,NM_000325,NG_007120,AC017068,AF238048,CH471057,AF048720,AF048721,AF048722,AK127829,AK291591,AK313987,BC013998,BC106010,CR597942,CR602984,CR604884,CR605855,CR610480,CR623307,U69961,NM_153427 NP_700476,NP_700475,NP_000316,AAK15048,EAX06262,EAX06263,EAX06264,AAC39716,AAC39717,AAC39718,BAG54582,BAF84280,BAG36699,AAH13998,AAI06011,AAC16257,Q99697,ABM84352,ABM87740 Hs.643588 ARP1|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|MGC111022|MGC20144|Otlx2|PTX2|RGS|RIEG|RIEG1|RS ALL1-responsive protein ARP1|OTTHUMP00000163736|OTTHUMP00000219750|OTTHUMP00000219751|all1-responsive gene 1|homeobox protein PITX2|paired-like homeodomain transcription factor 2|pituitary homeo box 2|pituitary homeobox 2|rieg bicoid-related homeobox transcription factor 1|solurshin protein-coding 732297 PITX3 paired-like homeodomain 3 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq] 737764,1580863 9620774,19144721,19394114,19345444,19204726,19058789,18989383,18420308,17905480,17888164,17017509,16636655,16565358,16477036,16272057,15489334,15286169,12477932,6801987,20570600,20376326,20468068 737764 5309 NM_005029,NG_008147,AL160011,CH471066,AF041339,BC011642 NP_005020,CAH71624,EAW49709,EAW49710,AAC24502,AAH11642,O75364,ABM82871,ABM86057,ABM86058 Hs.137568 CTPP4|MGC12766|PTX3 homeobox protein PITX3|pituitary homeobox 3 protein-coding 1315902 PIWIL1 piwi-like 1 (Drosophila) This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. [provided by RefSeq] 20308539,14749716,19138993,19047128,18781170,17544373,16953229,16287078,15489334,14702039,16344560,12477932,12037681,11154219,9851978,19995427,20204292,12906857,20502058,20732906,20940137 9271 NM_004764,AC127071,CH471054,AB274731,AF104260,AF264004,AF387507,AK093133,BC028581,BG718140,DB072454,DB527532,NM_001190971,HC007214,HC044523 NP_004755,EAW98509,EAW98510,EAW98511,BAF49084,AAC97371,AAK92281,AAK69348,BAC04068,AAH28581,Q96J94,NP_001177900,CBH19412,CBH30591 Hs.405659 HIWI|MIWI|PIWI piwi homolog|piwi-like protein 1 protein-coding 1315877 PIWIL2 piwi-like 2 (Drosophila) PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM] 1580863 20490325,16377660,15489334,14736746,14702039,12477932,11279525,20846497,12906857,19683485,20460541,20940137 55124 NM_018068,NM_001135721,AC105206,AC105910,CH471080,AB079367,AK000397,AK001213,AK027497,AK056418,AK291038,AK292440,AK299068,AK315830,AK315833,BC025995,BC111751,DC403636,HQ651229 NP_060538,NP_001129193,EAW63686,BAC81342,BAA91558,BAB55155,BAF83727,BAF85129,BAG61134,BAF98721,BAF98724,AAH25995,AAI11752,Q8TC59,ABZ92523,ADV17663 Hs.614809 CT80|FLJ10351|HILI|MGC133049|PIWIL1L|mili Hiwi-like|Miwi like|cancer/testis antigen 80|piwi-like protein 2|piwil2-like protein protein-coding 1351572 PIWIL3 piwi-like 3 (Drosophila) PIWIL3 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM] 12906857,20940137,12477932,18616918 440822 NM_001008496,AP000358,AP000359,CH471095,AB079368,AK302409,AK315806,BC144696,BC144693 NP_001008496,EAW59679,BAC81343,BAG63719,Q7Z3Z3,AAI67797 Hs.448343 HIWI3 piwi-like protein 3 protein-coding 1322245 PIWIL4 piwi-like 4 (Drosophila) PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM] 1580863 17544373,16344560,15489334,14749716,14702039,12906857,12477932,12414724,20146808,20721975,18846501,20379614,20940137 143689 AP000943,CH471065,AB079366,AK093475,AK096837,AK293616,BC031060,CR749642,DB091271,NM_152431 NP_689644,EAW66940,EAW66941,BAC81341,BAC04179,BAC04873,BAG57076,AAH31060,CAH18436,Q7Z3Z4,ABM82166,ABM85351 Hs.660188 DKFZp686P01248|FLJ36156|HIWI2|MIWI2 piwi-like protein 4 protein-coding 1353522 PJA1 praja ring finger 1 1580863 18029348,16344560,14702039,12477932,15772651,15489334,12036302,11959851,10722742,9393880,16169070,16096365,16247473,17941886,19690564 64219 NM_022368,NM_145119,NM_001032396,AL157699,CH471132,AF262024,AF264620,AK021892,AK096611,AK226171,AK290543,AK293266,AK294632,BC039149,BC048323,BC058327,BC075803,BC105051,BC105053,BC113035,CR616039,DA778001,BM127146,DC349747,NG_021258 NP_071763,NP_660095,NP_001027568,CAI41604,CAI41605,EAX05367,EAX05368,EAX05369,AAM53039,AAM53040,BAB13928,BAG53338,BAF83232,BAG56796,BAG57811,AAH48323,AAH75803,AAI05052,AAI05054,AAI13036,Q8NG27,ABZ92524,CAM24741 Hs.522679 PRAJA1|RNF70 E3 ubiquitin-protein ligase Praja-1|OTTHUMP00000158770|RING finger protein 70|praja 1 protein-coding 733552 PJA2 praja 2, RING-H2 motif containing 17081983,15489334,15342556,12477932,12036302,11959851,9455477,9393880,8889548,7623148,19615732,19690564 9867 NM_014819,AC008467,AC010625,CH471086,AB007898,AK291759,BC030826,BM469517,BM681899,BP301854,BQ228553,CR621575,CR749579 NP_055634,EAW49050,EAW49051,BAA23710,BAF84448,AAH30826,CAH18371,O43164 Hs.483036 KIAA0438|Neurodap1|RNF131 E3 ubiquitin-protein ligase Praja-2|OTTHUMP00000158944|praja 2, RING-H2 motif containing|praja2|protein carrying the ring-h2 sequence motif|ring finger protein 131 protein-coding 736706 PKD1 polycystic kidney disease 1 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq] 1580867,1601399,1580863 7894481,21048031,20937836,17474147,9326937,10861291,7663510,19331813,19194729,19165178,19158373,19158352,18922886,18791038,18632682,18566106,18422703,18417541,18289888,18263686,18060739,17980165,17890878,17671167,17574468,17540339,17525154,17451746,17437318,17437137,17396115,17102641,17090781,17081983,16790429,16778383,16767665,16741147,16565258,16319969,16311606,16219758,16215947,16038619,16014040,15870383,15780076,15748886,15466861,15382167,15284290,15231748,15146197,15087466,15060061,15001556,14718571,14596619,12946628,12819240,12665801,12482949,12220456,12048202,12007403,11961010,11912216,11901144,11891195,11857740,11836366,11752017,11728985,11698076,11691639,11581269,11571556,11414761,11406351,11316854,11274246,11216660,11140688,11115377,11113628,11106764,11058904,11012875,10987650,10923040,10854095,10729710,10647901,10577909,10493829,10364515,10339594,10200984,9921908,9889186,9521593,9345095,9285784,9259200,9199561,9192675,9177229,9150733,8981910,8792818,8765322,8643665,8554072,8004675,7736581,7633406,7581371,2821260,1577479,18283041,17371830,10097141,15692563,20558538,20557879,9171830,10770959,20923779,20169078,20206434,20808796,20388565,19285554,19443633,19686598,19759016,19854836,20201926,20219615 1580867,1601399 5310 NM_001009944,NM_000296,NG_008617,AC005600,AC009065,AC093513,CH471112,L39891,L43619,AB209025,AK309422,CN268814,CR590016,CR613181,L33243,U24497,AB209675 NP_001009944,NP_000287,AAC34211,EAW85553,EAW85554,EAW85555,AAB59488,AAC41765,BAD92262,AAC37576,AAC50128,O75276,P98161,Q15142,Q59EY6,Q59GT4,BAD92912 Hs.75813 PBP|Pc-1|TRPP1 autosomal dominant polycystic kidney disease 1 protein|polycystic kidney disease 1 homolog|polycystic kidney disease-associated protein|polycystin 1|polycystin-1|transient receptor potential cation channel, subfamily P, member 1 protein-coding 1352736 PKD1L1 polycystic kidney disease 1 like 1 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq] 1580863 11863367,15203210,14702039,12975309,12411743,15146197,20379614 168507 NM_138295,AC019066,AC069282,AL832676,CH236958,CH471128,AB061683,AK092057,AY358757,BF062285,AI860869,CN283529 NP_612152,EAW61003,EAW61004,EAW61005,EAW61006,EAW61007,BAB85807,AAQ89117,Q8TDX9 Hs.195979 PRO19563 PC1-like 1 protein|polycystic kidney disease protein 1-like 1|polycystin-1L1 protein-coding 1343423 PKD1L2 polycystic kidney disease 1-like 2 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18951430,16344560,15203210,14702039,12782129,12477932,11572484,19578180,19844255 114780 NM_052892,NM_001076780,AC092718,AC131888,CH471114,AB067466,AK098052,AK127266,AK131378,AL832135,AW082870,AY164483,AY371495,BC004562,BC014120,BC014157,CR627341,DB306292 NP_443124,NP_001070248,EAW95539,EAW95540,EAW95541,EAW95542,EAW95543,EAW95544,BAB67772,BAC05222,BAC86906,BAD18529,AAO32796,AAQ73173,AAH04562,AAH14120,AAH14157,CAH10372,Q6AI51,Q7Z442,Q96CM9,AAI72587 Hs.413525 DKFZp686J19100|FLJ45333|PC1L2 PC1-like 2 protein|polycystic kidney disease protein 1-like 2|polycystin-1L2 protein-coding 1317476 PKD1L3 polycystic kidney disease 1-like 3 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. 1580863 18951430,12782129,17353931,20379614,20406802 342372 NM_181536,AC009127,CH471166,AY164485 NP_853514,EAW59202,EAW59203,EAW59204,AAO32798,Q7Z443 Hs.675286 PC1-like 3 protein|polycystic kidney disease protein 1-like 3|polycystin-1L3 protein-coding 1348862 PKD1P1 polycystic kidney disease 1 (autosomal dominant) pseudogene 1 11414761,10493829,8004675,11042152,12477932,15489334 339044 AC138969,AK304826,AC136619,AC137803,AF229069,AK124516,AK126798,AK298381,AK304604,BC008178,BC010188,BC039707,BC046145,NR_036447,AK294825 BAG65574,AAF82267,AAH39707,AAH46145,BAC85871,BAC86699,BAG60617,BAG65390,Q6ZT94,Q6ZVJ0,Q86VD5,BAG57937 Hs.619009,Hs.718878,Hs.650717,Hs.634612,Hs.648395 FLJ00322|FLJ42525|FLJ44848|FLJ56775|FLJ56871|FLJ59085|HG1|KIAA0220|MGC47688 pseudo 1349855 PKD1P2 polycystic kidney disease 1 (autosomal dominant) pseudogene 2 11414761,10493829,8004675 283955 NG_002795,AC138969 HG2 pseudo 1346369 PKD1P3 polycystic kidney disease 1 (autosomal dominant) pseudogene 3 11414761,10493829,8004675 339039 NG_002796,AC138932,AF320593 HG3 pseudo 1344535 PKD1P4 polycystic kidney disease 1 (autosomal dominant) pseudogene 4 11414761,10493829,8004675 353512 NG_002800,AC126755,AF320594 HG4 pseudo 1353134 PKD1P5 polycystic kidney disease 1 (autosomal dominant) pseudogene 5 11414761,10493829,8004675 348156 NG_002798,AC126755 HG5 pseudo 1347986 PKD1P6 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 11414761,10493829,8004675 353511 NG_002799,AC139256 HG6 pseudo 1353787 PKD2 polycystic kidney disease 2 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. The encoded protein may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homoeostasis and other signal transduction pathways. This protein interacts with polycystin 1 to produce cation-permeable currents. Mutations in this gene have been associated with autosomal dominant polycystic kidney disease. [provided by RefSeq] 1580867,1580868,1580863 19821056,20682256,20408813,8650545,10760273,9171830,15337773,10770959,19265036,19194729,19193631,19158373,19158352,19098310,18755075,18754774,18727244,18725310,18721488,18701462,18694932,18664456,18552856,18417208,18273441,18256307,18048422,17303584,17292589,17283055,17217069,17204494,17081983,17008358,16551655,16319969,16311606,16278216,16223735,16215947,16192288,16038619,16025301,15843396,15780076,15717641,15692563,15489334,15382167,15300626,15194699,15130895,15123714,15001556,14993477,12946628,12707387,12527301,12525172,12477932,11991947,11901144,11891195,11854751,11698076,11438989,11252306,11076863,10913159,10835625,10541293,10411676,10097141,9949210,9573526,9529618,9402976,9326320,9286709,20934246,20206434,20557879,9192675,9175744,9110174,8954772,8619474,8298643,20439752,19913121,20089835,20628086,21044049,12809519,19443633,19491093,19546223,19569180,19783969,19801576,19812035,19850920,19854836,19936001,20168298,20219615,20361981,20379614,20833712 1580867,1580868 5311 NM_000297,NG_008604,AC084732,AF004873,CH471057,AF054992,AF113693,AK293461,AK294173,AK294589,BC112261,BC112263,BQ574566,U50928,U56813 NP_000288,AAC16004,EAX06011,AAC09351,BAG56956,BAG57494,BAH11820,AAI12262,AAI12264,AAC50520,AAC50933,Q13563,Q9UEU6,AAI11455 Hs.181272 APKD2|MGC138466|MGC138468|PC2|PKD4|Pc-2|TRPP2 R48321|autosomal dominant polycystic kidney disease type II protein|polycystic kidney disease 2 protein|polycystin-2|polycystwin|transient receptor potential cation channel, subfamily P, member 2 protein-coding 1314779 PKD2L1 polycystic kidney disease 2-like 1 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined. [provided by RefSeq] 1580863 10602361,20408813,10517637,12809519,9878261,17944866,16537653,15489334,12477932,11959145,11805156,11698076,10602992,10097141,9748274,12525172,16385451,20406802 9033 NM_016112,AF153459,AF153474,AL139819,CH471066,AF053316,AF073481,AF092170,AF094827,BC025665,DQ084244 NP_057196,AAF28108,CAH72822,EAW49833,EAW49834,AAD51859,AAD41638,AAD16101,AAD08695,AAH25665,AAZ31363,O95814,Q1L4F0,Q9P0L9,ABM82480,ABM85667 Hs.159241 PCL|PKD2L|PKDL|TRPP3 polycystic kidney disease (polycystin)-like|polycystic kidney disease 2-like 1 protein|polycystin-2 homolog|polycystin-2L1|polycystin-L|polycystin-L1|transient receptor potential cation channel, subfamily P, member 3 protein-coding 1321074 PKD2L2 polycystic kidney disease 2-like 2 1580863 10602361,12477932,11959145,11698076,10756092 27039 NM_014386,AC106753,AC106791,CH471062,AF118125,AF182034,AK301924,BC034619,BC038714,BC044581,BG721989 NP_055201,EAW62174,EAW62175,EAW62176,AAD46478,AAF65622,BAG63344,AAH44581,Q86YB4,Q9NZM6 Hs.716884 OTTHUMP00000223500|OTTHUMP00000223501|OTTHUMP00000223504|polycystic kidney disease 2-like 2 protein|polycystin-2L2|polycystin-L2 protein-coding 1351087 PKD3 polycystic kidney disease 3 (autosomal dominant) 1974020 5312 1315287 PKDREJ polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq] 1580863 9949214,17564962,12477932,11698076,10602361,10591208 10343 NM_006071,AL031034,AL078611,CH471138,EF517278,Z93024,AF116458,AL137288,BC027601 NP_006062,EAW73411,ABR22603,CAI18792,AAD18021,CAB70680,Q9NTG1,CAI18795 Hs.241383 PKD and REJ homolog|polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like|polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like|polycystic kidney disease and receptor for egg jelly-related protein protein-coding 1318266 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq] 70439,1642441,1642440 16243292,11919560,14983006,19158352,19021639,17903305,17669261,17593545,17470460,17283055,17160262,16897190,16677362,16199545,15647252,15458427,15108281,15108277,14702039,12874454,12846734,12506140,12191969,12079288,11898128,20575693,9503014,7920664,19292732,19524688,19557197,19914852,19923420,19940839,19943112,20379614,20413436,20554582 70439,1642441,1642440 5314 NM_138694,NM_170724,NG_008753,AL121946,AL157774,AL355997,AL391221,AL590391,AY129465,CH471081,AF480064,AK091971,AK128031,AY074797,AY092083,BX538137,BX647896 NP_619639,NP_733842,CAI20324,CAI20325,CAH73867,CAH73868,CAI20233,CAI16676,CAI16677,CAH72781,CAH72782,AAM93492,EAX04359,EAX04360,AAM44232,BAC03782,AAL74290,AAM18186,Q86Z26,Q8NAW5,P08F94 Hs.662050 ARPKD|DKFZp686C01112|FCYT|FLJ46150|TIGM1 TIG multiple domains 1|fibrocystin|polycystic kidney and hepatic disease 1 protein|polyductin|tigmin protein-coding 1321293 PKHD1L1 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 12620974,12477932,11329013,20379614 93035 NM_177531,AC021001,AC021237,AP000427,CH471060,AK131338,AL133640,AY219181,BC093096,BG186508 NP_803875,EAW91931,CAB63761,AAO60072,AAH93096,Q86WI1 Hs.170128 DKFZp586C1021|PKHDL1 PKHD1-like protein 1|fibrocystin L|fibrocystin-L|polycystic kidney and hepatic disease 1-like protein 1|polycystic kidney and hepatic disease-like 1 protein-coding 731267 PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. 1710219,15489334,12798691,12477932,11978406,10026146,8805303,8027074,7905001,7836431,3456605,2989819,2434500,1862343,1770951,20485264,20451256 5569 NM_181839,AC068700,AF234641,CH471068,AA644101,AK311857,BC022265,CR457052,CR602843,CR607441,CR610811,CR614267,CR623358,S76965,NM_006823 NP_006814,NP_862822,AAF40206,EAW87055,EAW87056,EAW87057,EAW87058,BAG34798,AAH22265,CAG33333,AAB21141,P61925,ABM84135,ABM87536 Hs.433700 PRKACN1 PKI-alpha|cAMP-dependent protein kinase inhibitor alpha|cAMP-dependent protein kinase inhibitor, muscle/brain isoform protein-coding 736855 PKIB protein kinase (cAMP-dependent, catalytic) inhibitor beta The protein encoded by this gene is a member of the cAMP-dependent protein kinase inhibitor family. Studies of a similar protein in rat suggest that this protein may interact with the catalytic subunit of cAMP-dependent protein kinase and act as a competitive inhibitor. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 1580863 19035091,15489334,14574404,12477932,12061725,11978406,10880337,7684369,2052616,12748276,19483721 5570 NM_181794,NM_181795,NM_032471,AL512283,AL513481,CH471051,AF087873,AF225513,AJ420562,AK074397,AK315151,BC036011,BC093027,BG507119,BG572417,CR597049,CR600764,CR604387,CR623875 NP_861459,NP_861460,NP_115860,CAI17093,CAI17094,CAI17095,EAW48168,EAW48169,EAW48170,EAW48171,AAM10501,AAK00638,BAG37599,AAH36011,AAH93027,Q5T0Z6,Q5T0Z7,Q9C010,ADR82685 Hs.726217 FLJ23817|PRKACN2 OTTHUMP00000017115|OTTHUMP00000017116|OTTHUMP00000017117|PKI-beta|cAMP-dependent protein kinase inhibitor 2|cAMP-dependent protein kinase inhibitor beta protein-coding 1350390 PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive PKA inhibitor, and is a predominant form of PKA inhibitors in various tissues. Three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 1580863 19913121,20628086,9218452,17353931,16870489,12477932,11978406,11780052,11742798,11549316,10880337 11142 NM_181804,NM_007066,CH471077,Z97053,AB019517,AF115966,AF182032,AK309209,AK312048,BC104256,BC104257,BF569812,BG717090,BU161358,CR623057,NM_181805 NP_861521,NP_861520,NP_008997,EAW75908,EAW75909,EAW75910,EAW75911,EAW75912,EAW75913,EAW75914,CAC18874,BAA77336,AAP97238,AAD55445,BAG34984,AAI04257,AAI04258,Q549H9,Q9Y2B9 Hs.472831 MGC126458|MGC126459 OTTHUMP00000063219|PKI-gamma|cAMP-dependent protein kinase inhibitor gamma protein-coding 737364 PKLR pyruvate kinase, liver and RBC The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2302851,2302790,1625581,1625591,1625588,1625589,1625583,1625587,1300048 11328279,10772876,10087985,9886305,9827908,9522120,9482576,9373149,9090535,9075576,9057665,8807089,8664896,8483951,8481523,8476433,8180378,8161798,8125298,7706479,3566732,3378452,2018831,1896471,1602151,1536957,1445295,8524282,3126495,19111066,19085939,18996102,18840520,18759866,18726918,18698090,18683378,18460648,18420493,18269685,17977029,17574881,17360088,17081983,16540430,16289162,15727904,15491302,15489334,12477932,12393511,12196482,12107439,12006652,11960989,11916152,11698298,11668614,11459427,19320443,19372549,19615732,19655166,19743919,20602615,20682687 2302851,2302790,1625581,1625591,1625588,1625589,1625583,1625587 5313 NM_000298,NM_181871,NG_011677,AL353760,AL713999,AY316591,CH471121,D13243,S59798,S59799,S59800,S59801,S59803,S59804,S59806,S59807,S59809,S59810,S59811,S59812,S59813,S59814,S59815,S59817,S59819,S59820,S59821,S59822,S59823,S59829,S59832,U47654,Z18922,AB015983,AK225947,AK298399,BC025737,BF110802,M15465,S60712 NP_000289,NP_870986,CAI95101,CAI95102,AAP69527,EAW53079,EAW53080,BAA02515,AAA92535,AAA92536,BAA31706,BAG60632,AAH25737,AAA60104,AAB26262,O75758,P30613,Q16715,Q16716,ABW03679 Hs.95990 PK1|PKL|PKR|PKRL|RPK OTTHUMP00000034069|R-type/L-type pyruvate kinase|pyruvate kinase 1|pyruvate kinase isozyme R/L|pyruvate kinase isozymes R/L|pyruvate kinase type L|pyruvate kinase, liver and blood cell|red cell/liver pyruvate kinase 1643243,2314803,2315058,2316879 BW132_H,GLUCO119_H,GLUCO133_H,GLUCO304_H protein-coding 737501 PKM2 pyruvate kinase, muscle This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq] 2302804,2302790,1580863,1300048 20602615,15967462,18029348,19759913,12620389,15231747,17220478,17620599,2040271,2813362,2854097,11256614,19401544,19097497,18996102,18789002,18519040,18464261,18394773,18337815,18298799,17414054,17406361,17081983,17011640,16964243,16132722,15996096,15952740,15862967,15592455,15489334,15294093,15128873,14702039,12820337,12820320,12820312,12665801,12477932,11960989,11895152,11162730,9657767,9466265,9373149,9329624,20592362,8895530,8125298,6930359,3102533,2931560,2838416,2174328,2169315,18468620,20847263,20082317,12650930,16169070,17308100,18191611,19265196,19734428,19754967,19820423,19920249,19920251,20010808,20133837,20304929,20332442 2302804,2302790 5315 NM_002654,NM_182471,AC020779,AF157692,AF185280,AF242584,AY352517,CH471082,X56494,AF025439,AK092369,AK222927,AK294315,AK297951,AK299413,AK300800,NM_182470,AK307855,AK308264,AK309781,AK312253,BC000481,BC007640,BC007952,BC012811,BC019265,BC023328,BC023592,BC035198,BC035487,BC094767,BC096823,BG490968,CR592076,CR592184,CR602413,CR612091,CR621722,CR621899,CR626740,M23725,M26252,Z36831 NP_872270,NP_002645,NP_872271,AAD47248,AAF01766,AAF65764,AAQ15274,EAW77884,EAW77885,EAW77886,EAW77887,EAW77888,EAW77889,EAW77890,CAA39849,AAC39559,BAG52542,BAD96647,BAG57589,BAG60266,BAG61395,ACE87615,ACE86928,BAG62458,BAG35185,AAH00481,AAH07640,AAH07952,AAH12811,AAH19265,AAH35198,AAH94767,AAA36449,AAA36672,P14618,Q504U3,Q8WUW7,Q9NYI7,Q9UK31,Q9UKK4,ABM83665,ABW03543 Hs.534770 CTHBP|MGC3932|OIP3|PK3|PKM|TCB|THBP1 OIP-3|OPA-interacting protein 3|PK, muscle type|cytosolic thyroid hormone-binding protein|p58|pyruvate kinase 2/3|pyruvate kinase isozymes M1/M2|pyruvate kinase muscle isozyme|thyroid hormone-binding protein 1|thyroid hormone-binding protein, cytosolic|tumor M2-PK protein-coding 1603703 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase preferentially phosphorylates and inactivates cell division cycle 2 protein (CDC2), and thus negatively regulates cell cycle G2/M transition. This kinase is associated with the membrane throughout the cell cycle. Its activity is highly regulated during the cell cycle. Protein kinases AKT1/PKB and PLK (Polo-like kinase) have been shown to phosphorylate and regulate the activity of this kinase. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 10373560,9001210,12738781,18378775,17192257,16565220,16476973,15616553,15175024,14702039,12606722,11802161,11326318,10504341,9499405,9268380,12477932,16344560,20694148,12912980 9088 BC121161,BC121162,BC130011,BC153823,BG530406,BQ017689,CR595647,CR597027,CR598569,CR601395,CR603670,CR608067,CR610333,CR617420,CR622913,U56816,NM_182687,NM_004203,AC004233,AC004235,AF549406,CH471112,AK097642,AK098452,AK294379,AK301926,AK303005,AK309964,DB009060,DB111506 AAI21162,AAI21163,AAI30012,AAC50949,Q0IJ49,Q99640,AAI60025,NP_872629,NP_004194,AAC04478,AAC04477,AAN40703,EAW85439,EAW85440,BAG53500,BAG57637,BAG63346,BAG64138 Hs.77783 DKFZp547K1610|FLJ20093|MYT1 membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase|myt1 kinase protein-coding 1352784 PKN1 protein kinase N1 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 10619026,12761180,8805275,8135837,18029348,18713748,18519042,18429822,17301291,17192257,17081983,16964243,16331689,16189514,15791647,15489334,15302935,15123640,14741690,14702039,14514689,12514133,12477932,12435421,12387894,11930178,11802708,11432776,11259428,11134534,11104762,11078882,11054541,10843871,10809724,10792047,10764742,10753910,10640683,10467162,10388627,10358086,9832145,9751706,9637778,9570957,9546672,9533029,9446575,9199504,9175763,9030526,8816775,8621664,8571127,8557118,7988719,7957185,7851406,12773565,9535835,19913121,20628086,16611232,18006505,18066052,19427017,20188095,20237496,9478917 5585 CR606067,CR610408,CR620491,D26181,S75546,U33053,NM_213560,AC008569,CH471106,AK123007,AK292130,AK313886,BC018575,BC040061,BC094766,BQ946818,BU628889,CR596511,CR596612,NM_002741 BAA05169,AAB33345,AAC50209,Q15523,Q16512,ABM83403,NP_002732,NP_998725,EAW84419,EAW84420,EAW84421,BAG53845,BAF84819,BAG36611,AAH40061,AAH94766 Hs.466044 DBK|MGC46204|PAK-1|PAK1|PKN|PKN-ALPHA|PRK1|PRKCL1 protease-activated kinase 1|protein kinase C-like 1|protein kinase C-like PKN|protein kinase C-related kinase 1|protein kinase PKN-alpha|protein-kinase C-related kinase 1|serine-threonine kinase N|serine-threonine protein kinase N|serine/threonine protein kinase N|serine/threonine-protein kinase N1 protein-coding 1352598 PKN2 protein kinase N2 1580863 9092545,7851406,19380854,18978678,18835241,18443202,18437351,17632197,17332740,17081983,16964243,16710414,16344560,15822905,15302935,14718574,14702039,12477932,11356191,10926925,10818102,10753910,10026169,9368003,9121475,8910519,7988719,11781095,10764742,9446575,15797222,12626518,20974804,19913121,20628086,12640115,19615732,19892838,20188095,20379614 5586 AC119426,AL136381,CH471097,AF118089,AK023692,AK298595,AK300304,AK301066,BC006993,BC029749,BC038832,BC046146,BC062620,NM_006256,BC125199,DA451427,S75548,U33052 NP_006247,CAI23270,CAI23271,CAI23273,EAW73161,EAW73162,EAW73163,EAW73164,EAW73165,AAF22033,BAG60783,BAG62057,BAG62673,AAH29749,AAH62620,AAI25200,AAB33346,AAC50208,Q08AF4,Q16513,Q5TBX8,Q6P5W9,Q9UHS4 Hs.440833 MGC150606|MGC71074|PAK2|PRK2|PRKCL2|PRO2042|Pak-2 cardiolipin-activated protein kinase Pak2|protein kinase C-like 2|protein-kinase C-related kinase 2|serine/threonine-protein kinase N2 protein-coding 1314240 PKN3 protein kinase N3 11432776,10441506,17192257,15489334,15282551,15164053,12477932,11259428 29941 NM_013355,AL441992,CH471090,AB019692,AI741632,BC023327,BC032794,BC041581,BC062558,BQ009753,BU854923,CB987960,CR614288 NP_037487,CAI15401,EAW87824,EAW87825,BAA85625,AAH32794,AAH62558,Q05BU1,Q6P5Z2,ACE87103,ACE86428 Hs.300485 RP11-545E17.1 protein kinase PKN-beta|protein-kinase C-related kinase 3|serine/threonine-protein kinase N3 protein-coding 1312771 PKNOX1 PBX/knotted 1 homeobox 1 1580863 9479508,18093541,15468914,12871956,12771203,12732210,12477932,11342305,20211142,21130836,10906782,10830953,10471746,10373562,10215622,9582372,9482740,9482739,9373149,9366523,9143494,9079695,8889549,8125298,7729685,11069920,19260141,20106730,20125193 5316 NM_004571,AP001630,AP001748,CH471079,AA133342,AK222892,AY142115,AY196965,AY566249,BC000735,BC007746,CR591092,CR603181,CR605067,CR614253,U68727,Y13613,AK294794 NP_004562,BAA95533,EAX09517,EAX09518,BAD96612,AAN34940,AAO45825,AAT70235,AAH00735,AAH07746,AAC51243,CAA73934,P55347,Q53GN9,Q5DNB2,Q6PKH2,Q96I87,ABM83635,ABM86887,BAG57916 Hs.431043 PREP1|pkonx1c PBX/knotted homeobox 1|Pbx regulating protein-1|homeobox protein PKNOX1|homeobox protein PREP-1|human homeobox-containing protein protein-coding 1348448 PKNOX2 PBX/knotted 1 homeobox 2 16344560,15489334,15339927,14702039,12477932,11972344,11549286,19913121,20628086,12412021,19721000,20379614 63876 NM_022062,AP000708,AP001007,AP003061,AP003069,CH471065,AB065001,AJ417081,AK023136,AK023792,AL512682,BC045626,BX648615,DA789677,AK295857,AK298999,AK316001,AK316268 NP_071345,EAW67631,EAW67632,EAW67633,BAB83665,CAD01142,BAB14422,AAH45626,CAH56146,Q96KN3,Q9H921,ABZ92374,ACE87283,ACE86602,BAH12203,BAH12921,BAH14372,BAH14639 Hs.727635 FLJ13074|PREP2 PBX/knotted homeobox 2|homeobox protein PKNOX2|homeobox protein PREP-2 protein-coding 1316687 PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. [provided by RefSeq] 1599084 19913121,20628086,20634891,20562859,20348237,10852826,7527055,9326952,9369526,19165232,19016709,18519826,17668353,17593084,16632867,16159729,15988759,15663951,12840072,12839569,12477932,11994137,11790773,10951270,10880961,10374265,9721216,9606214,9272178,7890138,14673151,20613778,11500511,19615732,19945625,20156963,20379614 1599084 5317 NM_000299,NM_001005337,AC119427,CH471067,Z73678,AK123555,AK299473,AK315291,AK316131,BC040253,BC114571,BC115702,X79293,Z34974,CS673442,CS673444,CS690825,CS690827,FB665578,FB665580,GM706790,GM706792,NG_023337 NP_000290,NP_001005337,EAW91350,EAW91351,EAW91352,CAA98022,BAG61437,BAH14502,AAI14572,AAI15703,CAA55881,CAA84426,Q13835,Q14BN3,CAP07488,CAP07489,CAP11456,CAP11457,CAR97070,CAR97071,CAT82292,CAT82293 Hs.497350 B6P|MGC138829 OTTHUMP00000033849|band 6 protein|plakophilin-1 protein-coding 1315204 PKP2 plakophilin 2 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq] 1580872,1580873,1580863 18632414,18596851,18474624,17521752,17041889,17010805,16876743,16567567,16549640,16415378,16344560,15489853,15324660,15231748,12941695,12477932,11790773,11416169,10852826,10828611,10374265,10374264,9721216,19302745,19084810,15778465,8922383,19427443,18029348,19551809,19863551,19880068,19955750,20031616,20031617,20215590,20400443,18662195 1580872,1580873 5318 NM_001005242,NM_004572,NG_009000,AC087311,AC087588,CH471116,EU492903,AK299139,AU125826,AW439621,BC070083,BC094762,BC126199,BC143966,BC143967,BX956935,DB454360,EU520483,EU520484,EU520485,EU520486,X97675 NP_001005242,NP_004563,EAW88511,EAW88512,EAW88513,EAW88514,EAW88515,EAW88516,ACD03459,BAG61191,AAH94762,AAI26200,AAI43967,ACD13292,ACD13293,ACD13294,ACD13295,CAA66264,CAA66265,A0AV37,Q99959,ADR83411 Hs.164384 ARVD9|MGC177501 plakophilin-2 protein-coding 1342758 PKP2P1 plakophilin 2 pseudogene 1 10828611 82500 NG_000936,AC005840,AC006064 pseudo 1319304 PKP3 plakophilin 3 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. [provided by RefSeq] 1580863 18801625,18729189,17391671,16964243,16407409,15951569,15489334,15302935,12827610,12707304,12477932,10852826,10381383,10374265,9373149,8125298,15778465,20501752,20348237,19913121,20628086 11187 NM_007183,AC138230,CH471158,AF053719,AK025067,AK223511,BC000081,BG611119,BX356582,Z98265 NP_009114,EAX02322,EAX02323,AAF23050,BAD97231,AAH00081,CAB44310,Q9Y446,ABM82618,ABM85801 Hs.534395 plakophilin-3 protein-coding 1317269 PKP4 plakophilin 4 Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants have been found for this gene, but the full-length nature of only two of them have been described so far. These two variants encode distinct isoforms. [provided by RefSeq] 1580863 15032605,16169070,19339549,19706687,19830446,20379614,19167335,8937994,19165527,19005682,18649358,17264675,17115030,17081983,16094384,15951569,15304078,14702039,12615965,12522270,12477932,12426320,12370826,12047349,11711544,11206135,10896674,10092585,10037471,9721216,9342840,11821434 8502 NM_001005476,AC005042,AC008070,CH471058,AK054911,AK055015,AK055823,AK124237,AK128720,BC034473,BC041163,BC048013,BC050308,CR602334,U60472,U81005,X81889,NM_003628 NP_003619,NP_001005476,AAY62612,AAY14929,EAX11425,EAX11426,EAX11427,EAX11428,EAX11429,EAX11430,EAX11431,EAX11432,EAX11433,AAH50308,AAQ13346,AAD00454,CAA57478,O95645,Q4W5T8,Q53TM5,Q6LCG8,Q99569 Hs.407580 FLJ31261|FLJ42243|p0071 catenin 4|plakophilin-4 protein-coding 1343434 PLA1A phospholipase A1 member A Phosphatidylserine-specific phospholipase A1-alpha (PLA1A) acts specifically on phosphatidylserine (PS) and 1-acyl-2-lysophosphatidylserine (lyso-PS) to hydrolyze fatty acids at the sn-1 position of these phospholipids.[supplied by OMIM] 1580863 10196188,16344560,15489334,12477932,12436198,12069807,9373149,9074642,8999922,8125298,1531641,19913121,20628086,17207965,19632984 51365 BE221465,BX647516,DB255030,U37591,NM_015900,AC073352,CH471052,AF035268,AF035269,AK222705,AK301880,AK313519,BC035347,BC047703 AAH47703,AAC99994,Q53H76,NP_056984,EAW79557,EAW79558,EAW79559,EAW79560,AAC98921,AAC98922,BAD96425,BAG63314,BAG36299,ADQ33095 Hs.437451 PS-PLA1|PSPLA1 OTTHUMP00000215248|OTTHUMP00000215249|OTTHUMP00000215250|phosphatidylserine-specific phospholipase A1|phosphatidylserine-specific phospholipase A1alpha|phospholipase A1 member A protein-coding 736427 PLA2G10 phospholipase A2, group X 1300048,1580863 19336475,18587072,17077289,16962371,16438975,15781456,15489334,15007070,14962950,14501581,12664556,12477932,12161451,12048163,12021277,11741884,11019817,10922494,8617505,17093191,9745929,9377118,20357262,9188469,18511424,15927955,19495570,16169070 8399 NM_003561,AC009167,CH471112,BC069539,BC106731,BC106732,BC111804,CR456885,U95301 NP_003552,EAW85104,AAH69539,AAI06732,AAI06733,AAI11805,CAG33166,AAB64410,O15496 Hs.567366 GXPLA2|GXSPLA2|MGC119918|MGC119919|MGC133367|SPLA2 GX sPLA2|group 10 secretory phospholipase A2|group X secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 10|phospholipase a2, group 10|sPLA2-X protein-coding 1312232 PLA2G12A phospholipase A2, group XIIA Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM] 1580863 11031251,16303743,15489334,12522102,12477932,11278438,9745929,9377118,14516201,12975309,19773279,20332099,19913121,20628086,20385819 81579 NM_030821,AC004067,CH471057,CS051187,AF306567,AF332892,AK075389,AK313081,AY359024,BC017218,BI667755,CR591422,CR610634,CR621106 NP_110448,EAX06246,EAX06247,EAX06248,EAX06249,CAI72089,AAG50243,AAG50289,BAC11589,BAG35907,AAQ89383,AAH17218,Q542Y6,Q9BZM1,ABM83651,ABM87859 Hs.389452 GXII|PLA2G12|ROSSY GXII sPLA2|OTTHUMP00000219719|group XII secreted phospholipase A2|group XIIA secreted phospholipase A2|group XIIA secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 12A|sPLA2-XII protein-coding 4889246 PLA2G12AP1 phospholipase A2, group XIIA pseudogene 1 100420258 AL513218,NG_027094 pseudo 4889245 PLA2G12AP2 phospholipase A2, group XIIA pseudogene 2 100420281 AL354819,NG_024917 pseudo 1351879 PLA2G12B phospholipase A2, group XIIB Phospholipase A2 (PLA2) enzymes catalyze hydrolysis of glycolipids to release free fatty acids and lysophospholipids. PLA2G12B belongs to the PLA2 family, but it is catalytically inactive due to an amino acid change in its active site and has altered phospholipid-binding properties (Rouault et al., 2003 [PubMed 14516201]).[supplied by OMIM] 1580863 15489334,15340161,14516201,12477932,9745929,9377118,19817957 84647 AF339053,AF349540,AK311349,AK313712,AY358032,BC093996,BC111946,BC143532,BF939574,NM_032562,AC069548,CH471083 EAW54466,AAL09472,AAK30168,AAQ92918,AAH93996,AAI11947,AAI43533,Q9BX93,EAW54465,NP_115951,EAW54464 Hs.333175 FKSG71|GXIIB|GXIIIsPLA2|MGC138151|PLA2G13 GXIII sPLA2-like|group XIIB secretory phospholipase A2-like protein|group XIII secreted phospholipase A2|group XIII secretory phospholipase A2-like protein|phospholipase A2, group XIII|sPLA2-GXIIB protein-coding 1344350 PLA2G15 phospholipase A2, group XV Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq] 1580863,1582126 10092508,11790796,19461040,18983494,16973413,16303743,15489334,15340161,14754907,14702039,12975309,12477932,10395961,10230407,9373149,8125298,19913121,20628086,16169070,20877624 1582126 23659 NM_012320,AC020978,CH471092,AB017494,AK001705,AK074828,AK127898,AK222790,AK296263,AK298494,AK300596,AL110209,AL389957,AY358425,BC011640,BC062605,CR597665,CR598578,CR609474 NP_036452,EAW83217,EAW83218,BAA76877,BAG50965,BAC11233,BAD96510,BAG58976,BAG60702,BAG62293,CAB53675,CAB97531,AAQ88791,AAH11640,AAH62605,Q8NCC3,ACE87583 Hs.632199 ACS|DKFZp564A0122|GXVPLA2|LLPL|LPLA2|LYPLA3 1-O-acylceramide synthase|LCAT-like lysophospholipase|group XV phospholipase A2|lysophospholipase 3 (lysosomal phospholipase A2)|lysosomal phospholipase A2 protein-coding 737532 PLA2G16 phospholipase A2, group XVI 1580863,2290002,2290001 19136964,19615464,9771974,17374643,18614531,17003497,16713569,16189514,15489334,12477932,12054741,11973642,11526504,11337467,10508479 2290002,2290001 11145 AB439591,NM_001128203,NM_007069,AP000753,AP001591,CH471076,AB030814,AF317086,AI374456,AI590735,AK313075,AU099540,BC001387,BC103807,BC103808,BG719903,CK003948,X92814 BAH08749,NP_009000,NP_001121675,EAW74158,EAW74159,EAW74160,BAB08108,AAL26892,BAG35901,AAH01387,AAI03808,AAI03809,CAA63423,P53816,Q3MI98,ABM83494,ABM86709 Hs.502775 AdPLA|H-REV107-1|HRASLS3|HREV107|HREV107-3|MGC118754 Ca-independent phospholipase A1/2|H-rev 107 protein homolog|HRAS-like suppressor 3|adipose-specific PLA2|adipose-specific phospholipase A2|group XVI phospholipase A2|hras like suppressor|renal carcinoma antigen NY-REN-65 protein-coding 735909 PLA2G1B phospholipase A2, group IB (pancreas) Phospholipase A2 (EC 3.1.1.4) catalyzes the release of fatty acids from glycero-3-phosphocholines. The best known varieties are the digestive enzymes secreted as zymogens by the pancreas of mammals. Sequences of pancreatic PLA2 enzymes from a variety of mammals have been reported. One striking feature of these enzymes is their close homology to venom phospholipases of snakes. Other forms of PLA2 have been isolated from brain, liver, lung, spleen, intestine, macrophages, leukocytes, erythrocytes, inflammatory exudates, chondrocytes, and platelets (Seilhamer et al., 1986 [PubMed 3028739]) .[supplied by OMIM] 1580863,1302550,1300048 19913121,20628086,7060561,1918029,9886417,15528384,16005851,17981679,12423354,19297324,18636547,18492292,17434532,16541075,16495221,16392040,15489334,15220446,14557262,12759552,12501175,12477932,11807183,11510783,11353443,11025364,10964913,10905638,10873103,10735945,10509674,9848887,9847074,9188469,8358438,8300559,8175726,7721806,7590434,6349696,3028739,2052621,9745929,9377118,7584826,6477929 1302550 5319 NM_000928,AC003982,AY438977,CH471054,M21056,AA844927,AK311830,BC005386,BC013384,BC106725,BC106726,BE969737,BX113838,CA867923,M21054 NP_000919,AAB95635,AAR05441,EAW98184,AAA60107,BAG34772,AAH05386,AAI06726,AAI06727,AAA36450,P04054,Q9BS22,ACE87785,ACT64452 Hs.992 MGC119834|MGC119835|PLA2|PLA2A|PPLA2 group IB phospholipase A2|phosphatidylcholine 2-acylhydrolase 1B|phospholipase A2|phospholipase a2, group ib 2289606 BW476_H protein-coding 731016 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) Phospholipases A2 (PLA2s) hydrolyze the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids. They play an important role in a variety of cellular processes, including digestion and metabolism of phospholipids, as well as production of precursors for inflammatory reactions. PLA2G2A belongs to PLA2 group II, which consists of extracellular enzymes with low molecular masses that require calcium ions for catalysis (Dennis, 1994 [PubMed 8175726]).[supplied by OMIM] 619597,1300048,1580863 16461407,16381901,16585943,16368710,16278219,16253130,16177112,15964894,15897607,15802623,15576846,15489336,15489334,15318030,15259375,15007070,14639048,14499668,12773489,12694401,12626587,12616631,12574380,12501175,12477932,12456890,12359734,12244093,12085323,11903045,11839587,11752212,11076863,10771478,10747008,9848887,9811056,9695991,9538252,9155583,8889548,8838795,8824283,8399335,8175726,7781071,7721806,7664108,3240982,3202859,2925633,2925608,2775276,2708461,2239446,2062381,2046470,1948070,9745929,9377118,15688033,9272153,9032461,18827909,11256614,17069818,19495570,19276398,19245588,19169647,19065693,18992148,18848929,18755682,18752058,18676680,18635536,18540439,18519687,18508504,18192373,18089561,18037706,17936881,17932742,17892360,17565722,17545304,17447002,17264305,17164967,17029400,16710414,16617059,16603549,20600872,16712791,20432503,19913121,20628086,20061576,15474031,16169070,19170196,19306380,19621421,19625176,19647092,19692168,19798476,19818633,19850087,19962957,20008021,20056178,20463618,20357262,19449149,20837598 619597 5320 NM_000300,NM_001161727,NM_001161728,NM_001161729,AF154852,AF154853,AF224774,AF368841,AL358253,AY462114,CH471134,M22431,AK291302,AY656695,AY656696,BC005919,BM708748,BU626291,BX641714,CB132375,CR456865,CR591563,CR593348,CR596161,CR600125,CR603279,CR605782,CR609269,CR610647,CR611816,CR616360,CR622866,M22430,NG_012928 NP_000291,NP_001155199,NP_001155200,NP_001155201,AAK57824,AAK57825,AAG49535,AAM21271,CAH74017,AAR16084,EAW94907,EAW94908,EAW94909,EAW94910,AAA36549,BAF83991,AAT73043,AAT73044,AAH05919,CAG33146,AAA36550,P14555,Q6DN23,Q8NI47,Q96RW8,Q96RW9,Q9C011,CAL38367,ABM84083,ABM87450 Hs.466804 MOM1|PLA2|PLA2B|PLA2L|PLA2S|PLAS1|sPLA2 GIIC sPLA2|NPS-PLA2|group IIA phospholipase A2|non-pancreatic secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2A|phospholipase A2, membrane associated protein-coding 1349993 PLA2G2C phospholipase A2, group IIC 8838795 391013 NM_001105572,Z98257 NP_001099042,CAI20258,Q5R387 Hs.512512 OTTHUMP00000002791|phosphatidylcholine 2-acylhydrolase-like protein GIIC|phospholipase A2, group IIC (possible pseudogene)|putative inactive group IIC secretory phospholipase A2 protein-coding 1320432 PLA2G2D phospholipase A2, group IID 1580863 10455175,18958346,16897354,16710414,16381901,16002569,15489336,15489334,15379211,15052324,12975309,12895207,12477932,12396716,11196711,11076863,9745929,9377118,19365107,20056178,20237496 26279 NM_012400,AL158172,CH471134,AF112982,AF188625,AK026347,AK290406,AK301396,AK310156,AK311903,AY358606,BC025706 NP_036532,CAC13159,EAW94915,AAD51390,AAF09020,BAF83095,BAG62931,BAG34844,AAQ88969,AAH25706,Q6UWX0,Q9UNK4,CAL37796,CAL37832,CAL37855,CAL38474,CAL38699 Hs.189507 SPLASH|sPLA2S GIID sPLA2|PLA2IID|group IID secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2D|sPLA2-IID|secretory phospholipase A2s|secretory-type PLA, stroma-associated homolog protein-coding 1320041 PLA2G2E phospholipase A2, group IIE 1580863 10681567,16710414,12477932,11922621,9745929,9377118,19122664,19915572,20056178,20228799 30814 NM_014589,AL358253,CH471134,AF189279,BC069116 NP_055404,CAH74016,EAW94906,AAF36541,AAH69116,Q9NZK7,AAI40241,AAI41620 Hs.272372 GIIE sPLA2|group IIE secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2E|sPLA2-IIE protein-coding 1322150 PLA2G2F phospholipase A2, group IIF 1580863 11112443,16710414,14702039,11877435,9745929,9377118,20056178 64600 NM_022819,AL158172,CH471134,Z98257,AF306566,AK093645,BM987713,BX647458 NP_073730,CAI19658,EAW94916,CAI20260,AAG50242,BAC04210,Q9BZM2,AAI56848 Hs.302034 FLJ25429|FLJ36326 GIIF sPLA2|group IIF secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2F|sPLA2-IIF protein-coding 1313284 PLA2G3 phospholipase A2, group III PLA2G3 belongs to the family of secreted phospholipase A2 (sPLA2; EC 3.1.1.4) proteins. These Ca(2+)-dependent lipolytic enzymes have a conserved Ca(2+)-binding loop and a his-asp dyad in the catalytic site (Murakami et al., 2003 [PubMed 12522102]).[supplied by OMIM] 1580863 20492356,10713052,19371233,18801741,17980167,17868035,15863501,15489334,12522102,12477932,12127976,10591208,9745929,9377118,20654644,20930276,19851296,20056178,20198315 50487 NM_015715,AC005005,CH471095,AF220490,BC025316 NP_056530,AAD15617,EAW59941,AAF44746,AAH25316,Q9NZ20,ABM83758,ABM87077 Hs.149623 GIII-SPLA2|SPLA2III GIII sPLA2|group 3 secretory phospholipase A2|group III secreted phospholipase A2|group III secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 3|phosphatidylcholine 2-acylhydrolase GIII|sPLA2-III protein-coding 735872 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. [provided by RefSeq] 1642453,1642456,1642461,1642462,1642465,1642444,1642445,1642446,1642457,1642481,1642443,1642469,1642471,1580863 20635443,20643646,17081983,16964243,16963226,16829784,16754327,16710414,16603549,16585943,16462602,16409471,16407173,16344560,16221889,16181776,15975962,15789617,15489334,15475363,15358156,15331599,15318030,15305015,15302935,15294900,15276701,15259375,15118355,15041036,15007079,15007070,14963030,14769798,14726390,14686920,14609334,12885780,12765847,12477932,12414998,12124392,12050227,12048163,11416127,10978317,10625659,10319815,10085124,9875225,9665851,9468497,9239738,8636128,8612580,8175726,8083230,7999086,7862535,7800505,7782073,1904318,1869522,9745929,9377118,20392485,20478385,20802406,20464283,8381049,9430701,19560328,19527514,19450127,19336370,19280714,19237603,19176526,19091957,19019335,18840708,18818748,18665843,18632668,18566601,18562188,18502815,18471798,18451993,18388244,18280113,18029351,17976189,17971499,17901074,17873281,17685590,17672871,17629734,17460547,17417066,17344094,17178883,20227521,20203101,20211985,19913121,20628086,20808133,21148506,20435073,8702602,18583979,18686860,19401382,19625654,19632995,19675210,19717620,19753100,19778898,19795129,20034614,20056178,20069553,20112044,20351714,20379614,8910365,20140262 1642453,1642456,1642461,1642462,1642465,1642444,1642445,1642446,1642457,1642481,1642443,1642469,1642471 5321 NG_012203,AL022147,AL049797,AY552098,CH471067,D38177,DQ399336,U01845,U08374,U11239,Z33877,AK290336,AK302938,BC114340,BX118890,DA451491,M68874,NM_024420,M72393 NP_077734,CAB42689,CAI22252,AAS45712,EAW91217,EAW91218,BAA07375,BAF83025,BAG64096,AAI14341,AAA60105,AAB00789,P47712,Q14064 Hs.497200 MGC126350|PLA2G4|cPLA2-alpha cPLA2|calcium-dependent phospholipid-binding protein|cytosolic phospholipase A2|lysophospholipase|phosphatidylcholine 2-acylhydrolase|phospholipase A2 group IVA 2316338 GLUCO223_H protein-coding 1318557 PLA2G4B phospholipase A2, group IVB (cytosolic) This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq] 1580863 20056178,20167866,10085124,10358058,17562024,16617059,16344560,12477932,11741884,10737800,9705332,8889548,19913121,20628086,11181995 100137049 AK124489,NM_001114633,AC020659,AK299419,AK310651,BF372565,BM982475,BQ004235,BX648318,CA488226,CU447449,DA250544,CH471125 NP_001108105,BAG61401,P0C869,EAW92522 Hs.198161 DKFZp686N12131|FLJ17693|FLJ42498|FLJ53173|HsT16992|cPLA2-beta OTTHUMP00000201605|OTTHUMP00000210673|cytosolic phospholipase A2 beta|phospholipase A2 group IVB protein-coding 1348684 PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent) This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20452986,10085124,17459165,17417066,17213206,16882668,16181776,15944408,15908428,15788676,15489334,14702039,14529291,12502717,12477932,12396716,12039969,11958371,10708517,9705332,9202034,9745929,9377118,19913121,20628086,18686860,19501189,20016400,20056178 8605 AK022440,AK124241,AK126152,AK295400,AK314524,AL050193,BC017956,BC063416,NM_001159322,NM_001159323,AB105806,AB105807,AB105808,AC010458,AC011466,AY485310,CH471177,AF058921,AF065214,NM_003706,CR456816,CR624635,NG_016021 BAG58352,BAG37118,CAB43312,AAH17956,AAH63416,NP_003697,NP_001152794,NP_001152795,BAC87744,BAC87745,BAC87746,AAR25453,EAW52311,EAW52312,EAW52313,EAW52314,EAW52315,AAC32823,AAC78835,CAG33097,Q6IBI8,Q76EY9,Q76EZ0,Q8WWC5,Q9UP65 Hs.631562 CPLA2-gamma|DKFZp586C0423|FLJ42247|FLJ44164 cytosolic phospholipase A2 gamma|phospholipase A2 group IVC protein-coding 1352050 PLA2G4D phospholipase A2, group IVD (cytosolic) 737633,1580863 16213696,15489334,14709560,12477932,9745929,9377118,18686860,19913121,20628086 737633 283748 AB090876,BC034571,NM_178034,AC084693,CH471125 EAW92530,BAC67158,AAH34571,Q86XP0,AAI40417,AAI46534,ABM82718,ABM85900,NP_828848,EAW92529 Hs.380225 cPLA2delta cPLA2-delta|cytosolic phospholipase A2 delta|phospholipase A2 delta, cytosolic|phospholipase A2 group IVD protein-coding 1606471 PLA2G4E phospholipase A2, group IVE 16572171,15866882,15489334,14702039,12477932,19913121,20628086 123745 NM_001080490,AC039056,AK127558,BC101584,BC101612,BC143436,BX648482 NP_001073959,BAC87034,AAI01585,AAI01613,Q3MJ16 Hs.668060 FLJ45651|MGC126633|MGC126661 cPLA2-epsilon|cytosolic phospholipase A2 epsilon protein-coding 1606120 PLA2G4F phospholipase A2, group IVF 16572171,15866882,14702039,12477932,9745929,9377118,19913121,20628086 255189 NM_213600,AC036103,CH471125,AK122623,AK172836,AL832972,BC035335,BC040920,BC111481,BC131531,BC142682,BC146648,BM986790,CR749451,AK304368,NR_033151 NP_998765,EAW92531,EAW92532,EAW92533,EAW92534,BAG53627,BAD18801,AAH35335,AAI31532,AAI42683,AAI46649,Q68DD2,Q8IUP3,CAH18288,BAG65207 Hs.231873 DKFZp666G192|DKFZp781B229|PLA2G4F/Z|PLA2G4FZ cPLA2-zeta|cytosolic phospholipase A2 zeta protein-coding 735328 PLA2G5 phospholipase A2, group V This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq] 1300048,1580863 19913121,20628086,8300559,17545304,16794232,16785555,16710414,16601231,16476735,16146426,16115226,16040605,15489334,15377291,15259375,14702039,12963740,12796497,12477932,12423354,12124392,11741884,11522612,11080676,10873151,10839997,10751642,10531350,9767110,8889548,8838795,9745929,9377118,20083228 5322 NM_000929,AL158172,AY524778,CH471134,AK097693,AV709457,BC036792,BM684907,BM705479,BX648966,CR607562,U03090 NP_000920,CAC13158,AAR92480,EAW94911,EAW94912,EAW94913,BAG53516,AAH36792,AAC28886,P39877 Hs.319438 DKFZp686C2294|GV-PLA2|MGC46205|PLA2-10|hVPLA(2) Ca2+-dependent phospholipase A2|calcium-dependent phospholipase A2|group V phospholipase A2|phosphatidylcholine 2-acylhydrolase 5 protein-coding 732454 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only two of them have been determined to date. [provided by RefSeq] 1580863 19029121,9417066,18029348,19225567,19138334,19059366,18826942,20219570,20938027,20669327,18799783,18790994,18775417,18676680,18570303,18562188,18208975,17459165,17275398,17254819,17188740,17082190,17033970,17003039,16966332,16943248,16799181,16783378,16585943,15573142,15489334,15461802,15385540,15364929,15318030,15252038,15249229,15052324,15007079,14749286,14702039,14634037,12477932,12423354,12208880,10591208,10336645,10092647,9079687,9745929,9377118,19913121,20628086,20647408,20629144,19164547,19170196,19556238,19578364,19578365,19625176,19692168,20053941,20171194,20186954,20379614,20464283 8398 NM_003560,NG_007094,AF116267,AF117692,AL021977,AL022322,AY522921,CH471095,AF064594,AF102988,NM_001004426,AF102989,AK001290,AK096521,AK128862,AK290825,AK291212,AK300459,AK308308,AL080187,BC034592,BC036742,BC051904,CR456543,NM_001199562 NP_001004426,NP_003551,AAF34728,AAD30424,CAA18446,CAQ10441,CAQ10442,CAQ10443,CAQ10444,CAQ10445,CAQ10446,AAR92478,EAW60219,EAW60220,AAC97486,AAD41722,AAD41723,BAG53314,BAF83514,BAF83901,BAH13289,CAB45768,AAH36742,AAH51904,CAG30429,O60733,CAK54574,CAK54873,NP_001186491 Hs.170479 CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2 85 kDa calcium-independent phospholipase A2|GVI PLA2|OTTHUMP00000199457|calcium-independent phospholipase A2|cytosolic, calcium-independent phospholipase A2|group VI phospholipase A2|patatin-like phospholipase domain containing 9|phospholipase a2, group vi protein-coding 1321810 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) The PLA2G7 gene encodes platelet-activating factor (PAF) acetylhydrolase (EC 3.1.1.47), a secreted enzyme that catalyzes the degradation of PAF to inactive products by hydrolysis of the acetyl group at the sn-2 position, producing the biologically inactive products LYSO-PAF and acetate.[supplied by OMIM] 1581024,1581025,1580863 20442857,9745929,9377118,17207965,20926117,20625038,18383322,8675689,10748027,19583678,19373214,19336475,19247692,19135199,19069165,19034521,18983494,18930040,18832472,18789441,18784071,18779277,18660489,18587071,18434304,18431085,18408575,18356547,18259035,18204052,18201705,18165686,18094516,18061193,18001304,17981297,17908960,17587752,17509958,17502572,17251670,17174223,17160904,17090529,16787988,16530769,16438975,16371369,16308493,16223884,16086290,15956136,15489334,15364890,15342556,15318030,15215249,15148590,15115767,15081260,14749286,14671207,12801611,12782155,12649088,12590019,12548211,12477932,12466264,12428682,12068200,11861667,11850055,11810302,11807372,11501940,11389474,11369691,11294621,11248283,10733466,10362256,9759612,9472966,9412624,9384577,9245731,8624782,7700381,7592717,19913121,20628086,20634581,17092424,20444451,19272461,19359705,19500354,19578796,19596311,19644070,19763134,19804884,19850020,19886071,19892409,19910444,19948975,20080080,20185515,20185811,20200624,20331434,20479152 1581024,1581025 7941 AL451143,AL591242,CH471081,AK290381,AK294471,AK297066,BC025674,BC038452,BP326231,CR608291,CR608325,CR615354,U20157,U24577,NM_005084,NG_016204,NM_001168357 ADQ33028,NP_005075,CAH73907,EAX04301,EAX04302,BAF83070,BAG57699,BAG59587,AAH38452,AAC50126,AAB04170,Q13093,NP_001161829 Hs.584823 LDL-PLA2|LP-PLA2|PAFAH 1-alkyl-2-acetylglycerophosphocholine esterase|2-acetyl-1-alkylglycerophosphocholine esterase|LDL-PLA(2)|LDL-associated phospholipase A2|PAF 2-acylhydrolase|PAF acetylhydrolase|gVIIA-PLA2|group-VIIA phospholipase A2|lipoprotein-associated phospholipase A2|platelet-activating factor acetylhydrolase protein-coding 1350138 PLA2R1 phospholipase A2 receptor 1, 180kDa 1580863 7925459,20937089,7721806,19571279,19197340,12225974,12107411,10922494,10864436,10737800,15342556,20805699,11019817,12477932,19730683 22925 NM_007366,NM_001007267,AC080166,AC093873,CH471058,BC140823,BC144631,BF725498,BF805380,BQ025507,BQ637466,BX485732,D30780,U17033,U17034,AI672072,AL598405,BP351340,NM_001195641,W15508 NP_031392,NP_001007268,AAY24052,AAY24190,EAX11391,EAX11392,EAX11393,AAI40824,AAI44632,BAA06444,AAA70110,AAC50163,Q13018,NP_001182570 Hs.410477 CLEC13C|PLA2-R|PLA2G1R|PLA2IR|PLA2R 180 kDa secretory phospholipase A2 receptor|C-type lectin domain family 13 member C|M-type receptor|secretory phospholipase A2 receptor protein-coding 737277 PLAA phospholipase A2-activating protein 1580863 9931468,18291623,16344560,15489334,15164053,14702039,14499668,12477932,11937510,11689694,10644453,10571045,9373149,8125298,2052621,20574843,19423704,20185149 9373 NM_001031689,AL356133,CH471071,AF083395,AF145020,AJ238243,AK001642,AK002143,AK022761,AK223544,AL133608,BC032551,CR615778,CR619186,CR620267,DA591576 NP_001026859,CAH72641,EAW58575,AAD03030,AAD42075,CAB42881,BAA91803,BAA92105,BAD97264,CAB63739,AAH32551,Q9Y263,ABW03904,ABW03596 Hs.27182 DOA1|FLJ11281|FLJ12699|PLA2P|PLAP DOA1 homolog|phospholipase A-2-activating protein|phospholipase A2 activating protein|phospholipase a2, activating protein protein-coding 1351974 PLAC1 placenta-specific 1 1580863 10995572,18183594,17983203,17909063,17554801,17186554,16860456,16594548,16303743,15803460,15608456,15489334,14702039,12477932,12412044,20509147,19652226,19705800 10761 CR603619,NM_021796,AC004383,AL672032,CH471107,CQ783102,AF234654,AK075086,BC022335,BC066327,CR618096,CR604394 NP_068568,EAX11757,CAF86310,AAG22596,BAC11392,AAH22335,AAH66327,Q9HBJ0,ABM82312,ABM85488 Hs.496811 CT92 cancer/testis antigen 92|placenta-specific protein 1 protein-coding 1603163 PLAC1L placenta-specific 1-like 15489334,14702039,12477932 219990 NM_173801,AP000790,CH471076,CS072271,AK093517,BC036256,BC048121,HC007216,HC044635 NP_776162,EAW73862,CAI93409,BAC04191,AAH36256,AAH48121,Q86WS3,CBH19413,CBH30647 Hs.132310 FLJ36198|TMEM122 placenta-specific 1-like protein|transmembrane protein 122 protein-coding 1349388 PLAC2 placenta-specific 2 (non-protein coding) This locus is inferred to be non-protein-coding based on the observations that a) there is no homology support for predicted open reading frames; and b) the location of the longer predicted open reading frame renders the transcript a candidate for nonsense-mediated decay (NMD) as the stop codon is >50 nucleotides upstream of the terminal splice site. [provided by RefSeq] 16303743,15498874,15489334,12477932 257000 NR_027064,AC011533,CH471139,CQ783870,AF370401,AK075215,BC036545,BC047562,BC120980,BC120981,CR591932 EAW69168,CAF86900,AAQ15237,BAC11478,Q8NBU9,Q9NPR7 Hs.515575 FLJ90734|NCRNA00036 miscrna 1348343 PLAC4 placenta-specific 4 14702039,12477932,8406465,19913121,20628086,19892844 191585 HC007218,NM_182832,AL773572,AF269287,AK027868,AK092431,BC093685,BC101615,BC101617,CR607889,L13197 CBH19414,NP_878252,AAG23170,BAC03888,AAH93685,AAI01616,AAI01618,Q8NAM4,Q8WY50 Hs.472492 C21orf115|MGC126664|MGC126666|PRED78 placenta-specific protein 4 protein-coding 1344285 PLAC5 placenta-specific 5 191586 BG354571 protein-coding 1345117 PLAC7 placenta-specific 7 191587 BG354573 Hs.656741 protein-coding 1317680 PLAC8 placenta-specific 8 16189514,12758124,12477932,12384430,11042152,20072156 51316 NM_016619,NM_001130715,NM_001130716,AC073840,CH471057,AF208846,AJ422147,AK000140,BC012205,BI824905,CR621787,EU570985,EU570986,FJ795024,FJ882405,HC767538,HC876527 NP_057703,NP_001124187,NP_001124188,EAX05923,EAX05924,EAX05925,AAF64260,CAD19530,AAH12205,ACO37643,Q96EJ4,Q9NZF1,CBM40550,CBM42822 Hs.546392 C15|onzin OTTHUMP00000219377|placenta-specific gene 8 protein protein-coding 1342779 PLAC8L1 PLAC8-like 1 12477932 153770 NM_001029869,AC091887,CH471062,BC130586,BC130588,BC144387,BC144388,BC144389,BC144392 NP_001025040,EAW61851,AAI30587,AAI30589,A1L4L8,ADR82838 Hs.162369 PLAC8-like protein 1 protein-coding 1315403 PLAC9 placenta-specific 9 12477932,15489334,15164054,12758124 219348 NM_001012973,AL356095,CH471142,BC066348,BC090922,BC117332,BC117334 NP_001012991,CAI40449,CAI40450,CAI40451,EAW80406,EAW80407,EAW80408,AAH66348,AAH90922,AAI17333,AAI17335,Q5JTB4,Q5JTB5,Q5JTB6,ABZ92525,ADR82783 Hs.204947 MGC104710 OTTHUMP00000019947|placenta-specific protein 9 protein-coding 1313225 PLAG1 pleiomorphic adenoma gene 1 Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599086 9722527,19347935,19266077,18391951,18269579,18059337,17693184,17332914,16736500,16344560,16108035,15930271,15920557,15642402,15585652,15262430,15231748,15208321,14695992,12477932,11894114,11888928,11882654,10646861,10029085,9525740,9268638,9020842,20522588,20546612,10987300,19343178,19396169,19692702,19893584,20189936,20687796 1599086 5324 NM_002655,NM_001114634,NM_001114635,A69511,AC107952,CH471068,AB209131,AK296933,AK313663,BC075047,BC075048,DA225321,DC347559,EF525168,EF525170,U65002,NG_023310,AF221550 NP_002646,NP_001108106,NP_001108107,CAB42491,EAW86774,EAW86775,BAD92368,BAG59484,BAG36415,AAH75047,AAH75048,ABW87255,AAC50995,Q6DJT9,ABZ92429 Hs.14968 PSA|SGPA|ZNF912 COL1A2/PLAG1 fusion|Pleomorphic adenoma gene 1|pleiomorphic adenoma gene 1 protein|zinc finger protein PLAG1 protein-coding 736872 PLAGL1 pleiomorphic adenoma gene-like 1 This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activity. This gene has been shown to exhibit antiproliferative activities and is a tumor suppressor gene candidate. Many transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 15888725,9184226,9671765,15888726,19155788,18663001,18644983,17805016,17341487,17178896,16928428,16873690,16809786,16733217,16344560,16179495,16112421,15592663,15581945,15286800,15231748,14702039,12529403,12477932,12473647,11935319,11360197,11313869,10655556,10597250,9722527,9158001,9150364,20518900,19423711,19694203,20097304,20175198,20363751,20487506 5325 NM_001080955,NM_002656,NM_001080952,NM_006718,NM_001080956,NM_001080953,NM_001080954,NG_009384,AL031390,AL049844,AL109755,CH471051,CQ834142,CQ834144,AI741398,AJ006354,AJ303119,AJ311395,AK091707,AK096331,AK314570,AK315184,BC074814,BC109085,BC109086,BX537397,CR749329,DA391124,DA426770,DA446007,DA549753,DA595200,DA991276,EF100438,EF100440,EF100442,NM_001080951,EF100443,EF100444,EF100445,EF100446,EF100447,EF100448,EF100449,EF100450,EF100451,EF100452,U72621,U81992 NP_001074420,NP_001074424,NP_002647,NP_001074421,NP_006709,NP_001074425,NP_001074422,NP_001074423,CAB56564,CAI21447,CAI21448,EAW47852,EAW47853,EAW47854,EAW47855,EAW47856,CAH05286,CAH05287,CAA06994,CAC39614,CAC39615,BAG37151,BAG37625,AAH74814,AAI09086,AAI09087,CAD97639,CAH18183,ABM54075,ABM54077,ABM54079,ABM54080,ABM54081,ABM54082,ABM54083,ABM54084,ABM54085,ABM54086,ABM54087,ABM54088,ABM54089,AAB67041,AAC34250,Q5TFH3,Q68DN7,Q9UM63 Hs.725973 DKFZp781P1017|LOT1|MGC126275|MGC126276|ZAC|ZAC1 LOT-1|OTTHUMP00000017344|OTTHUMP00000017345|OTTHUMP00000017346|OTTHUMP00000017347|OTTHUMP00000017348|PLAG-like 1|ZAC tumor supressor|lost on transformation 1|pleiomorphic adenoma gene-like protein 1|pleiomorphic adenoma-like protein 1|tumor supressor ZAC|zinc finger protein PLAGL1 protein-coding 1317514 PLAGL2 pleiomorphic adenoma gene-like 2 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq] 1580863 9722527,18029348,18655774,17950244,17618602,17551969,17462995,15585652,15489334,15361364,12477932,11780052,11498794,8724849,19574421,20025940,20379614,20478531 5326 NM_002657,AL121897,CH471077,CQ834146,AF006005,AK026951,AK292450,BC023655,D83784,HI574214 NP_002648,CAC16423,EAW76386,EAW76387,CAH05288,AAC34252,BAF85139,AAH23655,BAA12113,Q9UPG8,ABM83213,ABW03483,CBX47596 Hs.154104 FLJ23283|ZNF900 C2H2-type zinc finger protein|pleiomorphic adenoma-like protein 2|zinc finger protein PLAGL2 protein-coding 736468 PLAT plasminogen activator, tissue This gene encodes tissue-type plasminogen activator, a secreted serine protease which converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. Tissue-type plasminogen activator is synthesized as a single chain which is cleaved by plasmin to a two chain disulfide linked protein. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding; decreased activity leads to hypofibrinolysis which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580875,1580876,1580877,1580878,1580879,1580880,1580881,2311666,2311667,2311668,2311669,2311670,2311671,2311663,2311673,2311674,2311675,2311676,2311665,2311664,2311672,2311677,1580863 3090401,3090045,3088041,3009482,2838384,2745554,2558718,2551064,2513186,2496749,2110366,2107528,2107490,1930175,1909331,1901789,1900431,1783394,1762144,1645336,1602484,1502153,1368681,1310033,1301152,10543954,20500107,3087818,18029348,2503541,2962641,19527514,19526059,19356953,19238444,19222708,19176991,19171142,19116134,19088796,19061349,19019335,18983502,18977990,18974842,18953568,18922856,18818748,18720901,18714030,18690354,18662099,18629628,18574075,18541262,18468424,18449420,18419748,18321860,18202522,18194423,18057060,18037995,18029284,18023202,17986506,15080889,15031453,15016824,14983221,14759258,14746139,14697941,14630788,14608053,14592829,14529669,14500731,12941043,12913003,12891381,12794725,12727218,12726991,12719778,12719777,12694198,12643326,12589088,12544772,12544724,12524082,12484521,12477932,12468767,12468550,12445472,12390834,12354288,12228252,12167592,12123488,12090757,12023848,11988309,11986218,11978811,11963567,11928826,11928812,11864708,11864703,11858184,11848437,11816707,11734664,11734662,11507973,11450845,11385207,11384978,11371191,11170397,10956663,10632583,17934860,17689414,17681507,17661167,17649957,17636064,17608581,17473573,17458906,17419735,17408411,17320454,17287634,17264956,17257155,17207964,17151781,17145060,17064755,17003923,16953275,16879221,16839347,16836660,16828203,16733850,16706993,16614319,16466010,16410064,16385091,16369808,16356191,16344560,16320350,16248996,16179568,16113755,16015279,15976969,15916851,15869598,15861134,15846799,15721275,15652516,15629242,15550028,15542697,15541709,15489334,15448144,15269833,15140132,15119966,15116264,15109703,9988531,9434908,9359841,9305622,9268299,8613982,8607113,8533091,8366113,8360181,7876253,7721771,7586269,7582899,6682760,6572897,6538515,6538514,6433976,6337343,6089198,3896853,3161893,3133640,3126346,3103680,19492158,19913121,20628086,20628624,20673868,20140262,21034162,21082259,20097831,19538480,20409678,20686427,15207811,15466927,16037259,1632457,1695900,18289715,18331597,18472001,18647223,18945481,19085655,19217651,19257978,19290852,19483400,19513384,19578796,19698976,19718485,19730683,19874473,19929406,19948975,20217999,20218002,20447686,20452482,20472470,20508517,8508955 1580875,1580876,1580877,1580878,1580879,1580880,1580881,2311666,2311667,2311668,2311669,2311670,2311671,2311663,2311673,2311674,2311675,2311676,2311665,2311664,2311672,2311677 5327 NG_023264,NM_000930,A01465,AC083973,AC103724,AY291060,CH471080,CS123925,K03021,L00153,M11890,X77531,AF260825,AK289387,AK290575,AK297738,AK297937,AK299205,AK300984,AK313342,AY221101,BC002795,BC007231,BC013968,BC018636,BC095403,BT007060,CR623908,D01096,DA031108,DA549782,FM956488,M15518,M18182,V00570,X02901,NM_033011,X07393,X13097,A03776,A07197,BX641021,CS417360 NP_127509,NP_000921,CAA00166,AAP34246,EAW63231,EAW63232,EAW63233,EAW63234,EAW63235,CAJ18783,AAA98809,AAB59510,AAA61213,CAA54669,AAK11956,BAF82076,BAF83264,BAG60088,BAG60253,BAG61245,BAG62604,BAG36145,AAO34406,AAH02795,AAH07231,AAH13968,AAH18636,AAH95403,AAP35709,BAA00881,CAX11668,AAA60111,AAA36800,CAA23833,CAA30302,CAA31489,P00750,Q5HYM8,Q6LBF5,CAA00299,CAA00642,CAI46259,ABM84425,ABM87486,ACE87110,ACE86435,CAL48222 Hs.491582 DKFZp686I03148|T-PA|TPA alteplase|plasminogen activator, tissue type|reteplase|t-plasminogen activator|tissue plasminogen activator (t-PA)|tissue-type plasminogen activator protein-coding 735727 PLAU plasminogen activator, urokinase This gene encodes a serine protease involved in degradation of the extracellular matrix and possibly tumor cell migration and proliferation. A specific polymorphism in this gene may be associated with late-onset Alzheimer's disease and also with decreased affinity for fibrin-binding. This protein converts plasminogen to plasmin by specific cleavage of an Arg-Val bond in plasminogen. Plasmin in turn cleaves this protein at a Lys-Ile bond to form a two-chain derivative in which a single disulfide bond connects the amino-terminal A-chain to the catalytically active, carboxy-terminal B-chain. This two-chain derivative is also called HMW-uPA (high molecular weight uPA). HMW-uPA can be further processed into LMW-uPA (low molecular weight uPA) by cleavage of chain A into a short chain A (A1) and an amino-terminal fragment. LMW-uPA is proteolytically active but does not bind to the uPA receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580895,1580896,1580863,4891955,4892055,4891938,4892037,4143526,4892109 17986506,17974965,17949787,17934860,17923479,17921261,17880283,17877801,17709546,17681345,17661167,17657740,17654528,17649957,17638874,17611702,17601350,17581316,17559626,17549401,17548050,17545513,17532189,17523079,17458906,17363771,17344041,17331567,17299841,17299802,17264329,17258797,17240317,17233842,17203182,17203175,17192053,17187779,17174555,17159381,17083312,17080225,17029796,17013094,16967469,16949925,16908524,16858643,16855359,16825821,16825285,16807059,16806969,16794252,16761300,16728704,16685447,16685436,16632475,16604464,16601839,16547007,16525631,16509805,16504015,16461772,16459332,16456079,16267271,16236890,16127174,16113755,16102112,16077991,16008557,15996887,15988036,15944400,15937335,15927351,15886816,15885322,15881651,15880258,15868845,15854129,15849510,15831288,15750768,15728176,15653692,15646834,15629242,15616835,15615772,15558716,15515049,15494526,15489334,15375521,15371454,15356878,15326109,15262029,10749881,6589620,2544876,19536843,19526059,19490101,19475533,19436306,19394555,19232508,19177205,19176991,19147749,19133257,19132247,19123477,19117638,19115132,19102416,19101688,19097143,19088796,19029443,19020551,18997817,18988861,18977241,18954937,18949356,18940913,18824154,18714186,18691743,18600101,18599586,18570153,18519237,18511987,18491991,18466392,18439850,18436804,18390474,18376415,18376307,18362146,18355442,18337556,18331597,18321763,18240004,18239069,18237545,18208536,18202522,18196271,18193533,18177545,18076013,18053985,18048089,17994220,4226004,3933505,3920216,3888571,3840278,3090045,3031025,3023326,2987867,2829380,2752144,2536903,1499567,1334458,1327118,134998,14982725,8676469,10402467,2551064,9184208,2415429,2166055,2161846,2023947,1900515,1551416,20651370,20937265,20204407,20584616,20805979,20337595,12084931,12041678,12023847,12008951,11956327,11930938,11928818,11928816,11928812,11928809,11928807,11928806,11906036,11880102,11876553,11858184,11827968,11805108,11751384,11501527,11394884,11384978,11266465,11023511,10996659,10962009,10805774,10788498,10636902,10505055,10362070,10361124,10221568,9824347,9766559,9680361,9566979,9516128,9365930,9194591,9151681,9143604,9065988,8895530,8652631,8591045,8428004,8388810,8344937,8270642,8227186,8107091,8033079,7867716,7721771,7592875,7559792,7548163,6754572,6754569,6749491,15243126,15231498,15217951,15210852,15149885,15083890,15067375,14983227,14983219,14769799,14747469,14744782,14704150,14681909,14644829,14597629,14534291,14531820,14517288,14507113,12960238,12941043,12930304,12926141,12898287,12883725,12881310,12832381,12773490,12771144,12764090,12754271,12743986,12736046,12719789,12719778,12708473,12704669,12684636,12642587,12576295,12574820,12556966,12529357,12477932,12477728,12430175,12393547,12377770,12353084,12236587,12218297,12183060,12174885,12167592,12161038,12152683,12149463,12115506,20403162,19913121,20565774,20628086,20628624,20673868,20740581,20097831,20645833,16385451,17222367,17327908,17355798,18478929,18835034,19272641,19403319,19497963,19513384,19546228,19616049,19693769,19701247,19703758,19723042,19729488,19730683,19735728,19740518,19776673,19845941,19889475,19903858,20007542,20015050,20036101,20043086,20051950,20052287,20198323,20452482,20518747,8837777 1580895,1580896,4891955,4892055,4891938,4892037,4143526,4892109 5328 NM_001145031,NM_002658,NG_011904,A21571,AF377330,AL596247,CH471083,CS123918,K02286,K03027,X02419,AB208961,AK297940,AK298560,AK312960,AW316981,AY029537,AY820134,BC013575,BI759308,BI833559,BQ920793,BT007391,BX360462,CB959931,D00244,D11143,DC349055,K03226,M15476,X02760,Z36790,A18397,A35395,HI573980 NP_001138503,NP_002649,CAA01559,AAK53822,CAI13969,CAI13970,EAW54544,EAW54545,CAJ18774,AAA61252,AAA61257,CAA26268,BAD92198,BAG60256,BAG60754,BAG35799,AAK38734,AAV70488,AAH13575,AAP36055,BAA00175,BAA01919,AAC97138,AAA61253,CAA26535,P00749,Q59GZ8,Q5PY49,Q5SWW8,Q96SE8,Q9UEJ5,CAA01390,CAA02215,ABM84743,CBX47479 Hs.77274 ATF|UPA|URK|u-PA OTTHUMP00000019850|U-plasminogen activator|plasminogen activator, urinary|urokinase-type plasminogen activator protein-coding 735638 PLAUR plasminogen activator, urokinase receptor This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq] 1580897,1580863 19913121,20063318,20558828,20628086,20628624,20673868,19088796,19050704,19037107,19020743,19008962,18957516,18954937,18953252,18949356,18941116,18940913,18819934,18813852,18813792,18808175,18762175,18725541,18718938,18691743,18673553,18644795,18599586,18511987,18508599,18508598,18487955,18376415,18362146,18328568,18247343,18097558,1689240,8392005,14688365,1846368,10749881,12493773,8049431,2544876,19497996,19480010,19475533,19472211,19461880,19443353,19443020,19436306,19435784,19433314,19411312,19404710,19177204,19176991,19123477,19117638,19115132,18084301,18056417,18048089,18029284,18021410,17963689,17952591,17880283,17706320,17664334,17549401,17548516,17548471,17523079,17517866,17510314,17507651,17487556,17427199,17344041,17330942,17319000,17297470,17264329,17237151,17145753,17101149,17079488,17028265,17001307,16949925,16912170,16905120,16893520,16858643,16756681,16685436,16632475,16602701,16601839,16564525,16525631,16516155,16510444,16504015,16497155,16467878,16456079,16395714,16267271,16216813,16127174,16077991,16010978,15951330,15922359,15894933,15885322,15866865,15863511,15861141,15851910,15849776,15841307,15831288,15824107,15728176,15711734,15684035,15677461,15573379,15543615,15521066,15515049,15494526,15494432,15489334,15381392,15375521,15358545,15326109,15302576,15285727,15248186,15243126,15188055,15122709,15057824,15044324,15042374,15032076,15031672,15031282,14995994,14961171,14764580,14764427,14729600,14702177,14660675,14602715,14601049,14563447,14531820,14520707,14517339,14517288,14507113,14500474,12960238,12952933,12933356,12881310,12761227,12736046,12708473,12704669,12665524,12665127,12479856,12477932,12405290,12393744,12393547,12376466,12297505,12244126,12195704,12194987,12180971,12174885,12138365,12130664,12124797,12115506,12084931,12070711,12023847,12023845,12017319,11959893,11928822,11928816,11928807,11928806,11903048,11814408,11756447,11728456,11501527,11384978,11359936,11290596,11097855,11051819,10744708,10722370,10636902,10537314,9974409,9417082,9353320,9030717,8830783,8394346,7605992,7566098,3031025,3023326,2156852,1325912,1324136,1316922,1311495,9566979,16169070,10388537,15889147,20840675,20693875,18095109,20403162,20696135,20661471,20805979,15182581,17327908,18315930,18830568,19383607,19403319,19546228,19609941,19616049,19635932,19638192,19642359,19691446,19693769,19717562,19740518,19756998,19782465,19796867,19878584,19908229,20051950,20142364,20145038,20198323,20237496,20447686,20452482,20518747,20012874,20372789,20624254,20580686,20140262,20937265,20967855 1580897 5329 NM_001005376,NM_001005377,NM_002659,AC005525,AC006953,AY194849,AY620435,AY620436,AY620437,CH471126,S78532,U09346,U09937,AA337688,AA643630,AF257789,AI801128,AY029180,BC002788,CR456952,CR591481,CR601067,CR606767,CR611518,M83246,U08839,U09347,X51675,X74039,A18757,AK290774,AI912302,CA495321,CD370232,CS615284 NP_001005376,NP_001005377,NP_002650,AAC32739,AAD17387,AAD17388,AAD17389,AAN86351,AAT52166,AAT52167,AAT52168,EAW57215,EAW57216,EAW57217,EAW57218,EAW57219,EAW57220,AAD14289,AAA17979,AAB60690,AAF71751,BAF83463,AAK31795,AAH02788,CAG33233,AAA59862,AAB60333,AAA17978,CAA35981,CAA52191,Q03405,Q6GY32,Q9UPI5,CAA01421,ABM83943,ABM87261,CAO02271 Hs.466871 CD87|U-PAR|UPAR|URKR U-PAR|monocyte activation antigen Mo3|u-plasminogen activator receptor form 2|urokinase plasminogen activator surface receptor protein-coding 1346755 PLB1 phospholipase B1 737633 12804600,14702039,12477932,12150957,15583024,8017323 737633 151056 NM_153021,AC074011,AC093164,AX492941,CH471053,BC042674,BC065041,BC150633,BC153864,CR600701,CR612785,AK055428,BX109719,NM_001170585 NP_694566,AAY24081,AAY24082,EAX00532,EAX00533,EAX00534,EAX00535,EAX00536,AAH42674,AAH65041,AAI50634,AAI53865,Q6P1J6,BAB70920,NP_001164056 Hs.444933 PLB|PLB/LIP|hPLB OTTHUMP00000200975|lysophospholipase|phospholipase A2|phospholipase B|phospholipase B/lipase|phospholipase B1, membrane-associated protein-coding 1605619 PLBD1 phospholipase B domain containing 1 19019078,15193148,12477932,9373149,8125298 79887 NM_024829,AC008114,CH471094,AI370813,AK026315,AK225458,AK290914,BC000909,BC063561,BQ721063,BU859334,CB993231,CD366142,CR598292,CR602008,CR615954,CR621086 NP_079105,EAW96322,EAW96323,BAB15442,BAF83603,AAH00909,AAH63561,Q6P4A8 Hs.131933 FLJ22662 LAMA-like protein 1|PLB homolog 1|lamina ancestor homolog 1|phospholipase B domain-containing protein 1|putative phospholipase B-like 1 protein-coding 1606689 PLBD2 phospholipase B domain containing 2 17105447,15193148,15146197,12477932 196463 NM_001159727,AC010178,CH471054,BC030618,CN412955,CR625723,NM_173542 NP_775813,NP_001153199,EAW98052,EAW98053,AAH30618,Q8NHP8 Hs.115896 P76 76 kDa protein|LAMA-like protein 2|PLB homolog 2|lamina ancestor homolog 2|mannose-6-phosphate protein associated protein p76|phospholipase B domain-containing protein 2|phospholipase B-like 2 32 kDa form|phospholipase B-like 2 45 kDa form|putative phospholipase B-like 2 protein-coding 733094 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2314514,1581031,1300048,1580863 12799190,1322796,15611108,19491339,19519170,19729020,19734545,20056178,20125193,20171262,20379614,18649358,18203956,17620288,17393430,17363325,17335878,17041247,16916647,16860758,16136505,15782111,15623527,15489334,15085153,14702039,12821674,12482669,12477932,12213492,12193606,12168954,11941371,11880496,11780052,11753430,11481231,11118617,10760467,2841328,9198220,19240061,19114693,18957514,18692062,11287604,11278470,11148035,10980202,10843712,10501179,9730685,9651375,9628581,9278385,8878798,7589147,1979339,20936779 2314514,1581031 23236 NM_182734,NM_015192,AL021406,AL031655,AL031683,AL034551,AL049593,AL049632,AL050315,AL050319,AL050323,AL121589,AL365212,CH471133,AB011153,AJ278313,AJ278314,AK023689,AK127693,AK299195,AK310597,AL137267,AY004175,BC069420,BC117231,HB877222,HB895856,HC934631,HC953265 NP_877398,NP_056007,CAD56150,CAD56151,CAI43121,CAI43122,CAI21973,CAI21974,CAI21975,CAI22175,CAI43151,CAI43152,CAI43153,CAI42238,CAI42239,CAI22830,CAI22831,CAI22832,EAX10372,EAX10373,EAX10374,EAX10375,EAX10376,BAA25507,CAB98142,CAB98143,BAB14641,BAG54550,BAG61238,CAB70666,AAF86613,AAH69420,Q8IV91,Q8IV92,Q9NQ66,AAI17232,ADR83291,CBF62960,CBF74720,CBU87836,CBU96783 Hs.431173 FLJ45792|PI-PLC|PLC-154|PLC-I|PLC154 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 1|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-1|OTTHUMP00000030239|PLC-beta-1|inositoltrisphosphohydrolase|monophosphatidylinositol phosphodiesterase|phosphoinositidase C|phosphoinositide phospholipase C-beta-1|phospholipase C-I|phospholipase C-beta-1|triphosphoinositide phosphodiesterase protein-coding 732409 PLCB2 phospholipase C, beta 2 737745,1302588,1300048,1580863 19913121,20628086,20660057,20677014,1644792,7649993,19089657,18832656,17497434,17478077,17429106,16525635,16344560,15939402,15611108,15509571,15274049,14702039,12761218,12657629,12482669,12477932,12388553,12054652,12050180,12033943,11753430,11118617,10980202,10843712,10501179,9925923,9730685,9723859,9278385,7589147,1979339,11941371,15623527,20530480,1322796,14968112,19525236,20007712,20056178,2841328 737745,1302588 5330 AC020658,NM_004573,CH471125,AB209583,AK095454,AK130831,AK291657,BC000939,BC009009,BC136467,BT006905,BU147302,CR601877,DA981116,M95678 NP_004564,EAW92402,EAW92403,BAD92820,BAC85441,BAF84346,AAH00939,AAH09009,AAI36468,AAP35551,AAA36453,Q00722,Q59F77,Q6ZNQ9,Q9BVT6 Hs.355888 FLJ38135 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-2|PLC-beta-2|phosphoinositide phospholipase C-beta-2|phospholipase C-beta-2 protein-coding 731269 PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) PLCB3 plays an important role in initiating receptor-mediated signal transduction. Activation of PLC takes place in many cells as a response to stimulation by hormones, growth factors, neurotransmitters, and other ligands (Lagercrantz et al., 1995 [PubMed 7607669]).[supplied by OMIM] 737799,2314509,2314514,737745,1300048,1580863 19913121,20628086,20595579,18411281,18322273,17492941,17081983,16763092,15998840,15782111,15302935,14702039,12821674,12482669,11325525,11278298,11178984,15623527,10843712,10748198,10748023,10501179,9730685,9714794,9651375,9278385,7849701,7789993,7612006,7607669,7589147,1333955,1979339,11941371,20966218,12477932,15611108,18316326,19295129,20056178,2841328 737799,2314509,2314514,737745 5331 NM_000932,AP001453,CH471076,U26425,Z37544,BC032659,BC041625,BC142681,BC146645,Z16411,Z26649,HB877074,HB895708,HC934483,HC953117,NM_001184883 NP_000923,EAW74230,EAW74231,AAA77683,CAA85776,AAH32659,AAI42682,CAA78903,Q01970,Q8N1A4,CBF62886,CBF74559,CBU87762,CBU96709,BAG10887,NP_001171812 Hs.523761 FLJ37084 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-3|PLC beta 3|PLC-beta-3|phosphoinositide phospholipase C-beta-3 protein-coding 733727 PLCB4 phospholipase C, beta 4 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1300048,1580863,1302587 19913121,20554694,20628086,16767099,19470168,19086053,17081983,14702039,12482669,12477932,11780052,11329013,10843712,10501179,9730685,9278385,8672127,8530101,7589147,1979339,11118617,1322796,16344560,16461635,19856080,20056178,20172861,20180986,20379614,20398908,2841328 1302587 5332 NM_182797,AL023805,AL031652,AL121898,AL121909,CH471133,AK025027,NM_000933,AK054754,AK057634,AK122699,AK307482,AK307837,AL117633,AL844332,BC117458,BC143868,BG220268,BI439140,BX648680,CR619695,L41349,DB270238,DN913865,DR761451,NM_001172646 NP_000924,NP_877949,CAI43083,CAI43084,CAI43085,CAI43086,CAI43087,CAI43088,CAI43092,CAI42213,CAI42214,CAI42218,EAX10364,EAX10365,EAX10366,EAX10367,EAX10368,EAX10369,EAX10370,AAI17459,AAI43869,AAB02027,Q15147,Q5JYS9,NP_001166117 Hs.472101 FLJ16169|PI-PLC 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 4|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4|OTTHUMP00000030245|OTTHUMP00000030250|OTTHUMP00000030255|PLC-beta-4|dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))|inositoltrisphosphohydrolase|monophosphatidylinositol phosphodiesterase|phosphoinositidase C|phosphoinositide phospholipase C|phosphoinositide phospholipase C-beta-4|phospholipase C-beta-4|triphosphoinositide phosphodiesterase protein-coding 733331 PLCD1 phospholipase C, delta 1 Phosphoinositide-specific phospholipase C (PLC) acts as a signal transducer that generates 2 second messengers, diacylglycerol and inositol 1,4,5-trisphosphate, by hydrolyzing inositol phospholipids. PLC comprises a diverse family of enzymes that differ in structure and tissue distribution (Berridge, 1993 [PubMed 8381210]).[supplied by OMIM] 1299008,2300431,2300421,2300422,1304368,2300429,2300423,1302551,1580863 19913121,20628086,18434237,9588182,15702972,19448674,19086053,18006814,17041247,16344560,16240320,15817490,15809301,15509571,15037625,14702039,14550290,12761218,12482669,12477932,11960991,11706040,11336645,10843712,10501179,9730685,9512491,9345909,9278385,9056492,8381210,7890667,7589147,1979339,12805215,15861130,20530480,10518533,16115628,19344632,19578796,20018811,20056178,20398908 1299008,2300431,2300421,2300422,1304368,2300429,2300423,1302551 5333 NM_006225,NR_024071,NM_001130964,AC144536,CH471055,AB209862,AK090774,AK098690,AK127813,AK292324,BC050382,CR613815,CX164303,DA017409,DA083758,U09117,BX647927 NP_006216,NP_001124436,EAW64507,BAD93099,BAG52226,BAG54577,BAF85013,AAH50382,AAA73567,P51178,Q59EE9,Q5HYD7,CAI46087 Hs.80776 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-1|PLC-III|PLC-delta-1|phosphoinositide phospholipase C-delta-1|phospholipase C-III|phospholipase C-delta-1 protein-coding 1322076 PLCD3 phospholipase C, delta 3 This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq] 1580863 19430483,19329342,16344560,15231748,12477932,11853319,11706040,11500033,10702670,10336610,9799116,9360711,9056492,1979339,12482669,20852445,10843712,10501179,9730685,9278385,7589147,19913121,20628086,19344632,20056178 113026 HB877192,HB895826,HC934601,HC953235,NM_133373,AC002117,AC142472,CH471178,AB075844,AK074240,AL834392,BC010668,BC072384,BU621728,DA128483 CBF62945,CBF74688,CBU87821,CBU96768,NP_588614,EAW51544,EAW51545,EAW51546,EAW51547,BAB85550,BAB85029,CAD39054,AAH10668,AAH72384,Q8N3E9 Hs.380094 MGC71172 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-3|PLC delta3|PLC-delta-3|phosphoinositide phospholipase C-delta-3|phospholipase C-delta-3 protein-coding 1346447 PLCD4 phospholipase C, delta 4 19086053,17394098,16189514,15140260,15037625,12482669,12477932,11706040,10843712,10702683,10501179,9730685,9373149,9278385,8125298,7589147,1979339,14702039,19913121,20628086,15342556,20056178,8381210 84812 HB877206,HB895840,HC934615,HC953249,NM_032726,AC012510,CH471063,AB209599,AK023083,AK057186,AK223203,AK297808,AK299458,AY512961,BC006355,AI914254,BP361394 CBF62952,CBF74703,CBU87828,CBU96775,NP_116115,EAW70627,EAW70628,EAW70629,BAD92836,BAD96923,BAG60146,BAH13040,AAS82574,AAH06355,Q59F62,Q9BRC7,ABM86830,ABW03854 Hs.632528 MGC12837 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-4|OTTHUMP00000206572|OTTHUMP00000206573|PLC delta4|PLC-delta-4|hPLCD4|phosphoinositide phospholipase C-delta-4|phospholipase C-delta-4 protein-coding 1606000 PLCE1 phospholipase C, epsilon 1 PLCE1 belongs to the phospholipase family that catalyzes the hydrolysis of polyphosphoinositides such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) to generate the second messengers Ins(1,4,5)P3 and diacylglycerol. These products initiate a cascade of intracellular responses that result in cell growth and differentiation and gene expression.[supplied by OMIM] 18029348,20620593,11022048,11022047,17086182,19260473,19037252,18975016,18270750,18065803,17942568,17449496,17373700,16565089,16537651,16483931,16293787,15558028,15164054,15157671,14702039,12878163,12721365,12482669,12477932,12444546,11877431,11715024,11395506,10843712,10819331,10501179,9730685,9278385,7589147,1979339,16169070,16385451,20056178,20201926,20379614,20507940,20591883,20677014,20729852,20729853 51196 AL139118,NM_016341,AL139124,AL365510,AL389885,CH471066,AB040949,AF117948,AF170071,AF190642,AK022543,AK074239,AK289852,AK297779,AY995135,BC140705,BC144286,BC151854,NG_015799,NM_001165979 CAH70739,CAH70740,NP_057425,CAI16674,CAI16675,CAH73757,CAH73758,CAH73288,CAH73289,EAW50042,EAW50043,BAA96040,AAF22005,AAG28341,AAG17145,BAB14090,BAF82541,BAG60124,AAY45890,AAI40706,AAI44287,AAI51855,Q5VWL4,Q9P212,NP_001159451 Hs.655033 FLJ23659|KIAA1516|MGC167842|NPHS3|PLCE|PPLC 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1|OTTHUMP00000020125|OTTHUMP00000020126|PLC-epsilon-1|pancreas-enriched phospholipase C|phosphoinositide phospholipase C-epsilon-1|phosphoinositide-specific phospholipase C epsilon-1 protein-coding 735936 PLCG1 phospholipase C, gamma 1 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2299875,2298729,1642762,2299174,2299877,2299874,1300048,1580863,1302579 9808187,7774645,1979339,18671761,9632142,10391903,12074588,10092678,10708759,9856458,9632636,11960376,9341187,8649391,8824280,8805332,7831290,11507676,9660748,11888936,9846481,9047383,15117958,10022833,14744865,15696170,2176151,2173144,7876130,7689724,7592796,8388538,8890167,20872577,10873601,14722116,7681365,15702972,10350061,11048639,19179337,19086053,19074886,19018007,18594017,12771140,12646582,12601080,12598525,12514734,12507498,12496421,12482669,12454018,12419535,12163161,12085993,12084069,12071848,12061819,11956228,11941371,11886851,11823862,11780052,11779129,11409699,11390650,11390470,11368773,11353454,11312102,11259588,11094073,11071635,11043766,10980614,10940929,10926122,10913276,10899172,10843712,10823839,10783152,10770799,10692392,10652211,10586033,10501179,10488157,10473113,10467411,10455176,10430888,9891995,9743338,9730685,9729044,9712732,9697839,9600074,9535722,9516477,9489702,9398617,9344857,9314836,9299537,9281317,9278385,9231720,9207933,9178760,9174053,9164868,9045685,8995379,8918464,8910519,8905292,8892607,8885868,8672127,8662733,8660853,8657103,8628282,8627166,8596638,8443409,8386518,8384556,8290562,8155326,8084603,7999363,7799925,7761838,7682059,7657612,7629168,7589147,7536744,7535778,7518429,7513258,7512571,7510703,3254788,2167438,1715690,1689310,1683701,1676673,1639386,1500851,1383690,9344703,18579528,18467332,18256683,18037957,17991733,17562871,17561467,17561374,17419608,17372230,17336371,17242406,17148460,17130290,17111345,17081983,17023658,16921170,16764945,16341594,15996687,15972651,15953601,15951569,15944397,15872086,15766521,15744307,15654973,15623534,15592455,15563458,15556869,15329338,15270728,15252117,15184383,15161916,15153499,15144186,15123640,15062102,14989173,14702343,14647465,14568990,14523024,13129935,12960351,12937273,12890670,12845332,12788694,20514023,19913121,20232348,20628086,20674545,20621058,20889506,20510673,10579907,10652257,12477932,14968112,1501243,16153436,16467851,16767099,16938345,17474147,19223396,19570985,19586919,19663908,19681907,19711039,19712589,19805522,19881535,19952372,20011604,20056178,20080774,20379146,2550068,9045636,9234717 2299875,2298729,1642762,2299174,2299877,2299874,1302579 5335 NM_002660,NM_182811,AL022394,CH471077,DQ297143,U80983,AB210028,AF147391,AK297370,AK309606,AL110247,BC136466,BC144136,BX415739,BX434193,M34667 NP_002651,NP_877963,CAA18537,EAW75989,EAW75990,EAW75991,EAW75992,EAW75993,ABB84466,AAB70663,BAE06110,BAG59815,CAB53696,AAI36467,AAI44137,AAA36452,P19174,Q4LE43,Q6LC80,Q9UFY1 Hs.268177 NCKAP3|PLC-II|PLC1|PLC148|PLCgamma1 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 1|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-1|OTTHUMP00000178982|PLC-148|PLC-gamma-1|inositoltrisphosphohydrolase|monophosphatidylinositol phosphodiesterase|phosphatidylinositol phospholipase C|phosphoinositidase C|phosphoinositide phospholipase C|phosphoinositide phospholipase C-gamma-1|phospholipase C, gamma 1 (formerly subtype 148)|phospholipase C-148|phospholipase C-II|phospholipase C-gamma-1|triphosphoinositide phosphodiesterase 2316052 GLUCO208_H protein-coding 732989 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) Enzymes of the phospholipase C family catalyze the hydrolysis of phospholipids to yield diacylglycerols and water-soluble phosphorylated derivatives of the lipid head groups. A number of these enzymes have specificity for phosphoinositides. Of the phosphoinositide-specific phospholipase C enzymes, C-beta is regulated by heterotrimeric G protein-coupled receptors, while the closely related C-gamma-1 (PLCG1; MIM 172420) and C-gamma-2 enzymes are controlled by receptor tyrosine kinases. The C-gamma-1 and C-gamma-2 enzymes are composed of phospholipase domains that flank regions of homology to noncatalytic domains of the SRC oncogene product, SH2 and SH3.[supplied by OMIM] 1300048,1580863,1302581 15644415,17474147,2841328,9280292,19308021,19086053,18728011,18095154,18022864,18000612,17023658,16249387,16172125,15972651,15953601,15744341,15509800,15489334,15187135,15184383,15144186,14978237,14606067,12813055,12771181,12514734,12482669,12477932,12470302,12359094,12181444,12135708,12093870,12049640,11507676,11507089,11390470,11274146,10933389,10843712,10770799,10706702,10623845,10501179,10469124,10467411,10025672,9819383,9730685,9398617,9278385,8980110,8885868,8395016,8226808,8093016,7835906,7682059,7589147,7578066,2849563,1979339,10981967,17290227,19805522,19965664,20056178,20068106,20086178,20379614 1302581 5336 NM_002661,AC092142,AC098966,AC099524,CH471114,AB208914,AK304722,AK310042,AW504432,AY364256,BC007565,BC011772,BC014561,BC018646,M37238,X14034 NP_002652,EAW95524,EAW95525,EAW95526,BAD92151,BAG65485,AAQ76815,AAH07565,AAH11772,AAH14561,AAH18646,AAA60112,CAA32194,P16885,ABM84450,ABM87513 Hs.413111 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-2|PLC-IV|PLC-gamma-2|phosphoinositide phospholipase C-gamma-2|phospholipase C gamma 2|phospholipase C, gamma 2 (phosphatidylyinositol-specific)|phospholipase C-IV|phospholipase C-gamma-2|phospholipase c, gamma 2 protein-coding 1349228 PLCH1 phospholipase C, eta 1 737633 16344560,15702972,15583837,15345747,14702039,12477932,10470851,1979339,19913121,20628086 737633 23007 NM_014996,NM_001130960,NM_001130961,AC012022,CH471052,AB028992,AK022610,AK096620,AY691170,AY691171,BC043248,BC113950,CR749869,DA206803,AC068296,AC132006 NP_055811,NP_001124432,NP_001124433,EAW78747,EAW78748,EAW78749,BAA83021,BAB14129,AAW22607,AAW22608,AAH43248,AAI13951,CAH18710,Q4KWH8 Hs.567423 DKFZp434C1372|MGC117152|PLCL3 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-1|OTTHUMP00000212977|OTTHUMP00000212978|PLC eta 1|PLC-L3|PLC-eta-1|phosphoinositide phospholipase C-eta-1|phospholipase C-eta-1|phospholipase C-eta1a|phospholipase C-eta1b|phospholipase C-like 3|phospholipase C-like protein 3|phospholipase c-like 3 protein-coding 1346590 PLCH2 phospholipase C, eta 2 737633,1580863 16107206,15899900,15583837,12477932,9455484,1979339,18361507 737633 9651 NM_014638,AL139246,AL513477,AL513531,CH471183,AB007919,AK074149,AK122589,AK122591,BC019679,BC037356,BC043358,BC044630,BC050037,BC128207,BC128208,BC144620,DQ176850 CAX30815,CAX30816,CAX30817,CAX30818,NP_055453,EAW56101,EAW56102,EAW56103,EAW56104,BAA32295,BAB84975,BAC56930,BAC56932,AAH19679,AAH43358,AAH50037,AAI28208,AAI28209,ABA12209,O75038,Q86YU9 Hs.170156 PLC-eta2|PLCL4|PLCeta2|RP3-395M20.1 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-2|OTTHUMP00000000790|OTTHUMP00000000791|PLC-L4|phosphoinositide phospholipase C-eta-2|phosphoinositide phospholipase C-like 4|phospholipase C-eta-2|phospholipase C-eta2|phospholipase C-like 4|phospholipase C-like protein 4|phospholipase c-like 4 protein-coding 733121 PLCL1 phospholipase C-like 1 1580863 7633416,18997786,18776929,16952428,16344560,15342556,12477932,8818658,19913121,20628086,21102462,21102463,12039952,20030815 5334 NM_006226,AC011997,AC013478,AC020719,AC092599,AC109589,CH471063,AK127514,AK302673,BC101531,BC111985,BP340710,BX537442,D42108,DA193701,DA414853,T87219 NP_006217,AAY14733,EAW70174,BAG63906,AAI01532,AAI11986,CAD97684,BAA07688,Q15111 Hs.153322 MGC126580|MGC138190|PLCE|PLCL|PLDL1|PRIP 130kda-ins(1,4,5)p3 binding protein|PLC-L1|inactive phospholipase C-like protein 1|phospholipase C related, but catalytically inactive protein|phospholipase C, epsilon|phospholipase C-deleted in lung carcinoma|phospholipase C-related but catalytically inactive protein protein-coding 1314267 PLCL2 phospholipase C-like 2 19898481,15231748,14702039,12477932,12421765,10581172,10470851,8889549 23228 NM_001144382,NM_015184,AC090943,AC091291,AC091491,CH471055,CQ760209,AB029015,AK023546,AK291419,AL117515,BC036392,CR601279,N93050 ACT64559,NP_001137854,NP_055999,EAW64282,EAW64283,CAF32891,BAA83044,BAB14606,BAF84108,CAB55974,AAH36392,Q9UPR0,ACE87801 Hs.727618 FLJ13484|KIAA1092|PLCE2 OTTHUMP00000208054|PLC-L(2)|PLC-L2|PLC-epsilon-2|inactive phospholipase C-like protein 2|phospholipase C, epsilon 2|phospholipase C-L2|phospholipase C-epsilon-2 protein-coding 1349595 PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 1580863 14702039,16344560,12477932,15772651,19377476,20016163,17207965 55344 NM_018390,NR_028057,BX000483,BX537334,CH471225,AK002185,AK091006,AK097346,BC000888,BC005028,BC032072,BC033659,BC064136,BU594555,DA052662,DA840761,NG_016868 NP_060860,CAI43217,EAW66821,EAW66822,BAA92127,AAH05028,Q9NUJ7,CAM28359,CAM28360,CAM28361,CAM28362,CAM28363,CAM28364,ADQ32280 Hs.522568 FLJ11323|LL0XNC01-136G2.1 OTTHUMP00000024274|OTTHUMP00000024275|OTTHUMP00000045960|OTTHUMP00000045961|OTTHUMP00000195157|OTTHUMP00000195158|PI-PLC X domain-containing protein 1 protein-coding 1345610 PLCXD2 phosphatidylinositol-specific phospholipase C, X domain containing 2 1580863 12477932,14702039,20125193,20379614,20677014 257068 NM_153268,AC055748,AC117509,CH471052,CQ859810,CQ859812,AK056141,AK091636,AK095647,AK095735,AL712245,BC121155,BC121156,NM_001185106 NP_695000,EAW79695,CAH25955,CAH25956,BAB71103,AAI21156,AAI21157,Q0VAA5,NP_001172035 Hs.477114,Hs.603252 FLJ31579 OTTHUMP00000214649|PI-PLC X domain-containing protein 2 protein-coding 1604168 PLCXD3 phosphatidylinositol-specific phospholipase C, X domain containing 3 20379614 345557 NM_001005473,AC008830,AC020940,AC094082,CS300763,AK124638,AK127142,BX501895,BX648329 NP_001005473,CAK32427,BAG54443,CAH56150,Q63HM9,AAI48399,AAI56735 Hs.145404 PI-PLC X domain-containing protein 3 protein-coding 1347399 PLCZ1 phospholipase C, zeta 1 1580863 18322275,18003622,17933795,17196844,14702039,12416999,12117804,1979339,19913121,20628086,12477932,18924610 89869 NM_033123,AC087242,CH471094,AF532185,AK097555,AK097725,AK292279,AK314516,AY035866,BC125067,GN053466,HB877168,HB895802,HC007220,HC044839,HC934577,HC953211 NP_149114,EAW96388,EAW96389,EAW96390,AAN71895,BAC05099,BAC05152,BAF84968,AAK61372,AAI25068,Q86YW0,Q8N7S5,Q8N7X7,CAX52143,CBF62933,CBF74664,CBH19415,CBH30749,CBU87809,CBU96756 Hs.97542 MGC149685|NYD-SP27|PLCzeta 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase zeta-1|PI-phospholipase C zeta 1|PLC-zeta-1|phosphoinositide phospholipase C-zeta-1|phospholipase C-zeta-1|testis-development protein NYD-SP27|testis-development related NYD-SP27 protein-coding 70829 PLD1 phospholipase D1, phosphatidylcholine-specific Phosphatidylcholine (PC)-specific phospholipases D (PLDs; EC 3.1.4.4) catalyze the hydrolysis of PC to produce phosphatidic acid and choline. A range of agonists acting through G protein-coupled receptors and receptor tyrosine kinases stimulate this hydrolysis. PC-specific PLD activity has been implicated in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis (Hammond et al., 1995 [PubMed 8530346]).[supplied by OMIM] 2299910,1580863 19913121,20628086,20693286,19896495,8530346,10848592,14718562,19366706,19086053,18945966,18694819,18636075,18573349,18569866,16109716,15668389,15489334,15339843,15210717,15067001,14744865,14702039,14646617,14596936,12839565,12813467,12782287,12615079,12593858,12477932,12429840,12388543,12379803,12376551,12149127,12014986,12011045,11950936,11950840,11830497,11821392,11459228,11389680,11373276,11311142,11259428,11032811,10926929,10747870,10441128,10090765,9858822,9761774,9688545,9582313,9565577,9395408,9207251,9013646,10764771,12697812,18550814,18480413,18432522,18424723,18344600,18067864,17986621,17853892,17726467,17724165,17640750,17627030,17433303,17130901,17081983,17071135,17069807,16978840,16919239,16873675,16622417,16608858,16517737,16449386,16344560,16341931,16339545,17065600,18541525,19487697,19707939,19763255,19994725,20189990,20379614,20442281,20188462,20231899,20711340 2299910 5337 NM_002662,AC008134,AC078953,CH471052,AB209907,AJ276230,AK091897,BC068976,BX648900,DA325526,U38545,NM_001130081 ADR82735,NP_001123553,NP_002653,EAW78480,BAD93144,CAB76564,AAH68976,AAB49031,Q13393,Q59EA4 Hs.382865 PLD 1|choline phosphatase 1|hPLD1|phosphatidylcholine-hydrolyzing phospholipase D1|phospholipase D1|phospholipase D1, phophatidylcholine-specific|phospholipase d1, phophatidylcholine-specific protein-coding 733873 PLD2 phospholipase D2 Phosphatidylcholine (PC)-specific phospholipases D (PLDs; EC 3.1.4.4) catalyze the hydrolysis of PC to produce phosphatidic acid and choline. Activation of PC-specific PLDs occurs as a consequence of agonist stimulation of both tyrosine kinase and G protein-coupled receptors. PC-specific PLDs have been proposed to function in regulated secretion, cytoskeletal reorganization, transcriptional regulation, and cell cycle control.[supplied by OMIM] 2299902,2299908,2299898,2299901,2299910,2299906,1300048,1580863,2316251 19913121,20628086,19896495,11741937,11687572,11672434,11373276,11076863,11042115,11032811,11018470,10926929,10801846,10764771,10675563,9858823,9837959,9761774,16837165,20647543,9582313,17276458,9395408,19366706,19086053,18694819,18625302,18523140,18432522,18423386,18344600,18296444,17986621,17977756,17914593,17640750,17627030,17486117,17486115,16964281,16873675,16824927,16622417,16407827,16381901,16341931,16118212,15919668,15798205,15665518,15548524,15489336,15489334,15282299,15265082,15210717,15052340,15052337,14744865,14718562,14704231,14675200,12782287,12753082,12697812,12646582,12615079,12601529,12519790,12486109,12477932,12446727,12429836,12374567,12149127,11876650,11744693,20410302,20188462,20711340,20733000,19519662,19578796,19666113,19707939,19864325,20147969,20176813 2299902,2299908,2299898,2299901,2299910,2299906,2316251 5338 NM_002663,AC109333,AC233723,CH471108,AF033850,AF035483,AF038440,AF038441,AK304246,AK314797,AY178289,BC015033,BC056871,CR600915,AB209374 NP_002654,EAW90404,EAW90405,EAW90406,AAD04197,AAC24498,AAB96655,AAB96656,BAH14141,AAO21120,AAH15033,AAH56871,O14939,Q59FT5,Q86YQ7,BAD92611,CAL38027,CAL38028,CAL38037,CAL38479 Hs.104519 PLD 2|PLD1C|choline phosphatase 2|hPLD2|phosphatidylcholine-hydrolyzing phospholipase D2|phospholipase D2 protein-coding 1317914 PLD3 phospholipase D family, member 3 1580863 9140189,18095154,16580565,16344560,15794758,15790807,15489334,12477932,9813063,19019082,19525236,15342556 23646 BP304863,CR590703,CR594566,CR595516,CR596227,CR600026,CR616733,CR617265,CR623588,CR623894,CX785201,DA370667,U60644,BC096820,NM_012268,NM_001031696,AC010271,AC118344,CH471126,AK293690,AY927565,BC000553,BC036327 AAH96820,AAB16799,Q8IV08,NP_036400,NP_001026866,EAW56950,EAW56951,EAW56952,EAW56953,EAW56954,EAW56955,EAW56956,EAW56957,EAW56958,EAW56959,BAG57127,AAH00553,AAH36327 Hs.257008 HU-K4|HUK4 OTTHUMP00000202292|PLD 3|choline phosphatase 3|hindIII K4L homolog|phosphatidylcholine-hydrolyzing phospholipase D3|phospholipase D3|phospholipase d3 protein-coding 1347934 PLD4 phospholipase D family, member 4 16094384,15489334,12975309,12477932 122618 AY358843,BC015003,CR601706,NM_138790,AL512802,AL583810,CH471061,AK295352,AK296188 BAG58918,AAQ89202,AAH15003,Q96BZ4,NP_620145,EAW81887,BAG58319 Hs.407101 C14orf175 PLD 4|choline phosphatase 4|chromosome 14 open reading frame 175|phosphatidylcholine-hydrolyzing phospholipase D4|phospholipase D4 protein-coding 1603543 PLD5 phospholipase D family, member 5 20663923,14702039,12477932,19626040,20379614 200150 AL360271,AL445704,AL583845,AL591686,CH471098,AK091691,AK098092,AK295421,AK307857,AY391836,AY461578,BC101373,BC101374,NM_152666,DR004966,NM_001195811,NM_001195812,BC101375 NP_689879,CAI14984,CAH71339,CAI15726,CAI15727,EAW70111,EAW70112,EAW70113,BAC03722,BAC05230,BAH12060,AAS91020,AAI01374,NP_001182740,NP_001182741,AAI01375,AAI01376,Q8N7P1 Hs.672452 FLJ40773|MGC120565|MGC120566|MGC120567|PLDC OTTHUMP00000037811|inactive PLD 5|inactive choline phosphatase 5|inactive phosphatidylcholine-hydrolyzing phospholipase D5|inactive phospholipase D5 protein-coding 1602058 PLD6 phospholipase D family, member 6 14702039,12477932,17028579 201164 AK295282,BC031263,DC326979,NM_178836,AC055811,CH471196,AK090899,AK098419 BAC05303,BAG58266,AAH31263,Q8N2A8,Q8N7H7,NP_849158,EAW55718,BAC03541 Hs.31652 PLD 6|choline phosphatase 6|phosphatidylcholine-hydrolyzing phospholipase D6|phospholipase D6 protein-coding 1320975 PLDN pallidin homolog (mouse) The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 11936273,15102850,10610180,16189514,16169070,15489334,14702039,12923531,12576321,12477932,12191018,12019270,9110174,8986625,8619474,8608138,2968981,11031247,11252894,20936779 26258 NM_012388,AC090527,CH471082,AF080470,AF131859,AK057545,AK128626,AK315581,BC004819,BC026289 NP_036520,EAW77330,AAF08343,BAG54702,BAG37954,AAH04819,Q9UL45 Hs.726002 PA|PALLID pallid protein homolog|pallidin|syntaxin 13 binding protein 1|syntaxin 13-interacting protein pallid protein-coding 731690 PLEC1 plectin 1, intermediate filament binding protein 500kDa This gene encodes a member of the plakin or cytolinker protein family. Members of this family are large proteins characterized by a multi-domain structure which play important roles in maintaining and changing cell structure as well as serving as a scaffold for signaling complexes. Splicing of alternative 5' exons to a shared exon 2 generates isoforms with different N-terminal sequences which are directed to discrete locations within the cell. Plectin isoforms have also been found to be specific for a particular cell type, developmental stage and function. Mutations in this gene are associated with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), and subtypes EBS with pyloric atresia (EBS-PA) and EBS Ogna type (EBS-Ogna). Alternatively spliced transcript variants encoding different isoforms have been identified. The alternative exons, transcripts and isoforms have been described in PMIDs 8633055, 8698233, 10556294, 14559777, and 14672974. [provided by RefSeq] 1599911 20447487,18029348,8696340,8633055,19165527,18541706,18155192,18084872,17662978,17515952,17499243,17397861,17389230,17081983,16565220,16507904,16097034,16083285,15951569,15817481,15810881,15654962,15635413,15592455,15500642,15342556,15302935,15231748,14966116,14672974,14559777,12791251,12577067,12542521,12482924,12477932,12136158,11854008,11851880,10556294,10525545,10446808,9808630,9701547,9177781,8941634,8895530,8894687,8830774,8698233,8636409,8626512,3027087,2023931,21109228,11441066,11328943,11172097,11159198,10891503,10780662,20471030,20052759,20665883,20936779,10637308,10811835,12802069,14668477,16757171,19242489,19366731,19615732,19709076,19945614,20016501 1599911 5339 NM_000445,NM_201378,NM_201379,NM_201380,NM_201381,NM_201382,NM_201383,NM_201384,AC109322,CH471162,U63610,Z54367,AF330792,AY480044,AY480045,AY480046,AY480047,AY480048,AY480049,AY480050,AY480051,BC007597,BC013206,BP231761,BP321327,BP359323,U53204,X97053,Z36817,CS673496,CS690879,FB665632,GM706844,NG_012492 NP_000436,NP_958780,NP_958781,NP_958782,NP_958783,NP_958784,NP_958785,NP_958786,EAW82170,EAW82171,EAW82172,EAW82173,EAW82174,AAB05428,CAA91196,AAL37483,AAR95677,AAR95678,AAR95679,AAR95680,AAR95681,AAR95682,AAR95683,AAR95684,AAH07597,AAB05427,CAA65765,Q15149,Q8WXV5,Q96IE3,CAP07515,CAP11483,CAR97097,CAT82346 Hs.434248 EBS1|EBSO|HD1|PCN|PLEC1|PLEC1b|PLTN hemidesmosomal protein 1|plectin|plectin 1, intermediate filament binding protein 500kDa|plectin-1 protein-coding 1317946 PLEK pleckstrin 1580863 19913121,20628086,6885823,7559487,8615792,15698571,8999861,8694752,10497244,2768345,7782310,10995449,9060471,19043545,15815621,15761153,15573383,15489334,14702039,12477932,12456365,12054651,10860665,8208296,2897630,14630798,19546854,19722192,19944685,20190752,6457647 5341 AC015969,CH471053,AB208967,AK124424,AK130678,AK313756,BC018549,BM477542,CR542056,CR542079,CR603231,CR605130,X07743,NM_002664 NP_002655,AAX93121,EAW99874,EAW99875,EAW99876,BAD92204,BAG36495,AAH18549,CAG46853,CAG46876,CAA30564,P08567,Q59GZ2,ABM84512,ABM85822 Hs.468840 FLJ27168|P47 platelet 47 kDa protein|pleckstrin protein-coding 1314027 PLEK2 pleckstrin 2 1580863 10419454,18029348,17658464,17008542,15865208,15489334,12477932,11911883,10548495,8889549 26499 NM_016445,AL139785,CH471061,AF228603,BC001226,BC008056,CR621991 NP_057529,EAW80935,AAF34791,AAH01226,AAH08056,Q9NYT0,ABM82164,ABM85349 Hs.170473 pleckstrin 2 homolog|pleckstrin-2 protein-coding 1345011 PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 1302742 15164054,11001876,18164066,18079691,17884985,17000705,16174643,16080115,15489334,15485858,14702039,14516276,12477932,12101241,11802782,11513726,17823121,18029348,18654987,19948975,20189936,15146197,16344560 1302742 59338 NM_021622,NM_001001974,BX664700,BX842242,CH471066,AB209407,AF286160,AK057463,AK075159,AK095775,AK314660,AL133603,BC001136,NG_027823,BC041654,BC042458,BE785067,BX647627,CR595156,CN310748,DA923219,NM_001195608,R26739 NP_067635,NP_001001974,CAI23596,CAI23597,CAI23598,EAW49315,EAW49316,EAW49317,EAW49318,EAW49319,BAD92644,AAG15197,BAG51917,BAG37218,AAH01136,AAH42458,Q59FQ3,Q5RGS4,Q5RGS6,Q9HB21,ABM83192,ABM86393,NP_001182537 Hs.643512 TAPP1 OTTHUMP00000020651|PH domain-containing family A member 1|TAPP-1|pleckstrin homology domain-containing family A member 1|pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1|tandem PH domain containing protein-1|tandem PH domain-containing protein 1 protein-coding 1352018 PLEKHA2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 1302742,1580863 11001876,16421571,14702039,11802782,18029348,19786618,20379614 1302742 59339 NM_021623,AC067817,AC108863,AA985353,AF286164,AK057205,AK098787,AK291842,AK296068,AK309020,BQ025762,CR605978,DC332022 NP_067636,AAG15201,BAF84531,BAG58827,Q9HB19,AAI66639 Hs.369123 FLJ25921|TAPP2 PH domain-containing family A member 2|TAPP-2|pleckstrin homology domain-containing family A member 2|pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2|tandem PH Domain containing protein-2|tandem PH domain-containing protein 2 protein-coding 1313158 PLEKHA3 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 1302742,1580863 11001876,16341674,15489334,15252450,15107860,14702039,12477932,20300118 1302742 65977 NM_019091,AC009948,CH471058,AF286162,AK000074,AK074209,AK314459,BC035471,BC039812,BC044567,BM794932,CR597426,DQ786318 NP_061964,AAX88884,EAX11023,EAX11024,EAX11025,EAX11026,AAG15199,BAA90927,BAG37067,AAH44567,Q9HB20,ACE87578,ACE86891 Hs.41086 FAPP1|FLJ20067 FAPP-1|PH domain-containing family A member 3|four-phosphate-adaptor protein 1|phosphatidylinositol-four-phosphate adapter protein 1|phosphoinositol 4-phosphate adapter protein 1|pleckstrin homology domain-containing family A member 3|pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 protein-coding 1346892 PLEKHA3P1 pleckstrin homology domain containing, family A member 3 pseudogene 1 91405 NG_000949,AC005795 PLEKHA3P pseudo 1346745 PLEKHA4 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 1302742 11001876,16169070,15489334,12477932 1302742 57664 NM_020904,NM_001161354,AC026803,CH471177,AB208908,AY007233,BC015956,BC024157,BC025259,BC033832,BC064601,CR621483 NP_065955,NP_001154826,EAW52406,EAW52407,EAW52408,BAD92145,AAG01896,AAH24157,AAH33832,AAH64601,Q59H51,Q9H4M7,ABM84360,ABW03560 Hs.9469 PEPP1 PEPP-1|PH domain-containing family A member 4|phosphoinositol 3-phosphate binding protein-1|phosphoinositol 3-phosphate-binding PH domain protein 1|phosphoinositol 3-phosphate-binding protein 1|pleckstrin homology domain-containing family A member 4 protein-coding 1344659 PLEKHA5 pleckstrin homology domain containing, family A member 5 1302742 11001876,16713569,17081983,16964243,16344560,12168954,11214970,20936779,15951569,15489334,15324660,15231747,14702039,12477932,11058868 1302742 54477 NM_001143821,AC024902,AC087314,AC091805,AC092828,CH471094,AB051473,AF302150,AK001529,AK023127,AK026344,AK056054,AK294739,AK295151,AK296277,AK297391,AL834259,BC000969,NM_019012,BC004164,BC013133,BC044245,BC070174,BC127091,BC127092,DB186727,DC311342,DR000821,AJ270694,AK130244,NM_001190860 NP_061885,NP_001137293,EAW96392,EAW96393,EAW96394,EAW96395,EAW96396,EAW96397,BAB21777,AAG22817,BAA91742,BAB14419,BAG57882,BAG58167,BAG58986,BAG59831,CAD38934,AAH00969,AAH13133,AAH44245,AAH70174,AAI27092,AAI27093,Q6NSF8,Q86ST7,Q9HAU0,NP_001177789 Hs.188614 FLJ10667|FLJ26734|FLJ31492|KIAA1686|PEPP-2|PEPP2 PEPP-2|PH domain-containing family A member 5|phosphoinositol 3-phosphate-binding protein 2|phosphoinositol 3-phosphate-binding protein-2|pleckstrin homology domain-containing family A member 5 protein-coding 1353676 PLEKHA6 pleckstrin homology domain containing, family A member 6 1302742 17456239,16964243,15951569,14702039,12477932,11001876,10737800,10231032,19536175,20379614,20936779 1302742 22874 DQ925691,NM_014935,AL592114,AL606489,CH471067,AB023186,AK092454,AK096673,AK299780,AL571585,BC010522,BC073995,BC090947,BC152475,BG011951,BM855051,CR590769,DQ925685,DQ925686,DQ925687,DQ925689,DQ925690 ABL59917,ABL59918,Q96FR0,Q9Y2H5,AAI67845,NP_055750,CAH71228,EAW91509,EAW91510,BAA76813,BAG61662,AAH10522,AAI52476,ABL59912,ABL59913,ABL59914,ABL59916 Hs.253146 KIAA0969|MGC176733|PEPP3 OTTHUMP00000038673|PEPP-3|PH domain-containing family A member 6|phosphoinositol 3-phosphate-binding protein 3|phosphoinositol 3-phosphate-binding protein-3|pleckstrin homology domain-containing family A member 6 protein-coding 1350975 PLEKHA7 pleckstrin homology domain containing, family A member 7 737633 19041755,19430479,15146197,12477932,19615732,20193553,20379614,20479155,20414254,21045733,20808826 737633 144100 NM_175058,AC026639,AC116533,AC127033,AC131064,CH471064,AK296371,AK301465,AW135567,BC033239,BC041452,BC071599,BX648885,CN293588 NP_778228,EAW68452,BAG59045,BAG62985,AAH33239,AAH41452,AAH71599,Q6IQ23,Q8IUS9 Hs.12332 DKFZp686M22243 PH domain-containing family A member 7|pleckstrin homology domain containing, family A member 2|pleckstrin homology domain-containing family A member 7 protein-coding 1348276 PLEKHA8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 1302742,737633 19341712,17687330,16103222,15107860,14702039,12747765,12477932,11001876,17116893,18459163,19940249,20482226 1302742,737633 84725 NM_032639,AC007285,CH471073,AF308300,AK023180,AK294857,BC002838,BC053990,CR598838,AB073667,AI168153,AI954066,AL832700,CR627312,NM_001197026,NM_001197027 NP_116028,EAW93930,EAW93931,EAW93932,EAW93933,AAG48267,BAB14449,BAG57961,AAH02838,AAH53990,Q96JA3,ABM84424,ABM87457,NP_001183955,NP_001183956 Hs.233495 DKFZp313M1034|DKFZp686J09164|FAPP2|MGC3358 FAPP-2|OTTHUMP00000123379|OTTHUMP00000123380|OTTHUMP00000202309|PH domain-containing family A member 8|hFAPP2|phosphatidylinositol-four-phosphate adapter protein 2|phosphoinositol 4-phosphate adapter protein 2|phosphoinositol 4-phosphate adaptor protein-2|pleckstrin homology domain-containing family A member 8|serologically defined breast cancer antigen NY-BR-86 protein-coding 1351574 PLEKHA9 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9 737633 17207965,12477932,11001876,14702039,8889548 737633 51054 NM_015899,AC009248,CH471111,AF103731,BC063575,AF380162,AK024218,BC028914,BU741550,NR_037144 ADQ32602,NP_056983,EAW57878,EAW57879,EAW57880,AAC97956,AAH63575,O95397,AAK55424 Hs.558495,Hs.233495 FLJ14156|PLEKHA9 protein PLEKHA9|putative glycolipid transfer protein pseudo 1343334 PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1 1580863 20301200,20308990,10585447,15761153,15489334,14702039,12477932,10923244,19913121,20628086 58473 NM_001130034,NM_001130035,NM_001130036,AF179306,AP000860,AP002993,CH471076,AB209716,AF081583,AF093249,AF100612,AF101054,AK054725,AK289620,AK289909,AK290109,AK296033,AK301299,AK311158,AK314748,AL712105,BC008075,CK819503,DC305763,EB387039,U89715,NM_021200,NM_001130033 NP_001123506,NP_001123507,NP_001123508,AAG13807,EAW74900,EAW74901,EAW74902,EAW74903,EAW74904,EAW74905,EAW74906,BAD92953,AAF21786,AAF16684,AAF18932,AAF18572,BAG51417,BAF82309,BAF82598,BAF82798,BAH12242,BAH13452,BAG37288,AAH08075,AAF16675,Q59EU5,Q9UF11,NP_067023,NP_001123505 Hs.445489 KPL1|PHR1|PHRET1 PH domain containing protein in retina 1|PH domain containing, retinal 1|PH domain-containing family B member 1|PH domain-containing protein in retina 1|evectin-1|pleckstrin homology domain retinal protein 1|pleckstrin homology domain-containing family B member 1 protein-coding 1322147 PLEKHB2 pleckstrin homology domain containing, family B (evectins) member 2 632809,1580863 15231747,17353931,15489334,15231748,14702039,12477932,10200314,9373149,8125298,16169070,11001876 632809 55041 CR603184,DR761393,NM_001100623,NM_017958,AC009477,AC073869,AC131180,CH471250,AI458777,AK000790,AK054998,AK074259,AK093730,AK123710,AK126289,AK223338,AK293880,AK296008,AK302770,BC001428,BC013991,BC050695 Q53FF1,Q53TH7,Q96CS7,ABM82879,ABM86065,NP_001094093,NP_060428,AAX93135,EAW51260,EAW51261,EAW51262,EAW51263,EAW51264,EAW51265,EAW51266,BAA91379,BAG53942,BAD97058,BAG57269,BAG58779,BAG63978,AAH01428,AAH13991,AAH50695 Hs.710504,Hs.469944 EVT2|FLJ20783|FLJ23679|FLJ30436 OTTHUMP00000197850|OTTHUMP00000203955|OTTHUMP00000203956|OTTHUMP00000205940|PH domain-containing family B member 2|evectin-2|pleckstrin homology domain-containing family B member 2 protein-coding 1347482 PLEKHD1 pleckstrin homology domain containing, family D (with M protein repeats) member 1 122453 XM_063135 1321508 PLEKHF1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 1580863 18029348,16189514,16188880,15489334,14702039,12477932 79156 NM_024310,AC010512,AC010644,AF434818,AK027758,AK301616,AY037145,BC002744,BC018876,CR602222,CR606040,CR615714,CR626339,CR626406,CR591930 NP_077286,AAL30773,BAB55349,BAG63101,AAK67626,AAH02744,Q96S99 Hs.466383 APPD|MGC4090|PHAFIN1|ZFYVE15 PH and FYVE domain-containing protein 1|PH domain-containing family F member 1|apoptosis-inducing protein D|lysosome-associated apoptosis-inducing protein containing PH and FYVE domains|phafin 1|phafin-1|pleckstrin homology domain-containing family F member 1|zinc finger FYVE domain-containing protein 15 protein-coding 1323798 PLEKHF2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 1580863 11256614,18288467,17081983,16381901,16189514,15489336,15489334,14702039,12477932,11230166,11076863,20923822,19060904,19995552 79666 NM_024613,AC018801,CH471060,AF434819,AK023249,AL834473,BC011806,CR615432,AA767886 NP_078889,EAW91743,AAL30774,BAB14486,CAD39132,AAH11806,Q9H8W4,CAL37459,CAL38501,ABM84335,ABM87727 Hs.29724 FLJ13187|PHAFIN2|ZFYVE18 PH and FYVE domain-containing protein 2|PH domain-containing family F member 2|pleckstrin homology domain-containing family F member 2|zinc finger FYVE domain-containing protein 18 protein-coding 1321123 PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1580863 20641033,19165232,17081983,14702039,14574404,12477932,10574462,20379614 57480 NM_001029884,AL035086,AL450339,AL450344,CH471051,AB033035,AJ420468,AK056300,AK293288,AK294798,AK307631,BC089428,BC140864,BC151134,CR606130 NP_001025055,CAI42790,CAI12938,CAI12939,EAW47765,EAW47766,EAW47767,BAA86523,BAG51672,BAG56812,BAG57918,AAH89428,AAI40865,AAI51135,Q5EBL9,Q5JYA6,Q5T1F3,Q9ULL1 Hs.189781 ARHGEF41|FLJ31738|KIAA1209 OTTHUMP00000017413|pleckstrin homology domain-containing family G member 1 protein-coding 1349345 PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 737633,1580863 18045877,14702039,12477932,11839748,11756498,12376548,12787561,19911011 737633 64857 AK024429,AK026111,AK095957,AL832850,BC013426,BC015174,BC075858,NM_022835,AC011500,CH471126,AK302476 BAB15719,BAB15364,AAH13426,AAH15174,AAH75858,Q9H7P9,NP_073746,EAW56887,EAW56888,EAW56889,EAW56890,EAW56891,BAG63764 Hs.631574 ARHGEF42|CLG|DKFZp667J2325|FLJ00018|FLJ22458|FLJ38638 OTTHUMP00000201970|OTTHUMP00000201971|PH domain-containing family G member 2|common-site lymphoma/leukemia guanine nucleotide exchange factor|pleckstrin homology domain-containing family G member 2 protein-coding 1346378 PLEKHG3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 12477932,9628581 26030 NM_015549,AL121774,CH471061,AB011171,AK074169,BC004298,BC011891,BC063554,BC073907,BC086862,BC129952,BC129953,BX248779 NP_056364,EAW80869,EAW80870,EAW80872,EAW80873,EAW80874,BAA25525,BAB84995,AAH04298,AAH11891,AAH63554,AAH73907,AAI29953,AAI29954,CAD66586,A1L390,EAW80871 Hs.509637 ARHGEF43|KIAA0599|MGC156299|MGC156300 PH domain-containing family G member 3|pleckstrin homology domain containing, family G, member 3|pleckstrin homology domain-containing family G member 3 protein-coding 1604025 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5' UTR, or encoding a different isoform, have been found for this gene. [provided by RefSeq] 19065522,17611710,17357132,16780885,16713569,16491300,16344560,16001362,15489334,15455264,15148151,14702039,12796826,12477932,8755926,20424877,18482007 25894 NM_015432,NM_001129727,NM_001129728,NM_001129729,NM_001129731,NG_008439,AC040160,CH471092,AB197663,AB197664,AK024475,AK304723,AK308298,AL117435,BC001520,BC054486,BC063501,BC082974,BC115389,BC115390,DB061030,DB279205 EAW83119,NP_056247,NP_001123199,NP_001123200,NP_001123201,NP_001123203,EAW83117,EAW83118,EAW83120,EAW83121,BAE07054,BAE07055,BAB15765,BAG65486,CAB55923,AAH54486,AAH63501,AAH82974,Q58EX7 Hs.188781 ARHGEF44|DKFZp434I216|PRTPHN1|SCA4 PH domain-containing family G member 4|Purkinje cell atrophy associated protein 1|Purkinje cell atrophy-associated protein 1|pleckstrin homology domain-containing family G member 4|puratrophin-1 protein-coding 1606952 PLEKHG4B pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 12477932,11572484 153478 NM_052909,AC010443,AC021087,AB067496,AI561188,AK075513,AK125163,AK309784,BC008352 NP_443141,BAB67802,AAH08352,Q96HN1,Q96PX9,AAI56563,AAI72524 Hs.535800 FLJ43173|KIAA1909 PH domain-containing family G member 4B|pleckstrin homology domain-containing family G member 4B protein-coding 1603206 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Multations in this gene have been found in a family with distal spinal muscular atrophy. [provided by RefSeq] 12761501,17564964,16344560,14702039,12477932,9872452,8889548,11756498,12376548,12787561,19305408,19773279 57449 NM_001042665,NG_007978,AL158217,AL591866,CH471130,AB018263,AB097001,AK024676,AK091201,AK096347,NM_198681,NM_001042663,NM_020631,NM_001042664,AK125550,AK128021,AK131074,AK294875,AK299523,AK301239,BC015231,BC036671,BC042606,BF033726,BG698980,BQ185626,CR619991,DA100291,DA126163,DB225012 NP_001036130,CAI22159,CAI22160,CAI22161,CAI22162,CAI22164,CAI22165,CAI16068,CAI16069,EAW71539,BAA34440,BAC77354,BAG52304,BAG53269,NP_001036129,NP_941374,NP_001036128,NP_065682,BAC85124,BAH11909,BAH13058,BAH13439,AAH15231,O94827,Q5SY18 Hs.284232,Hs.619982 DSMA4|GEF720|KIAA0720|RP4-650H14.3 NFkB activating protein|OTTHUMP00000001053|OTTHUMP00000001055|PH domain-containing family G member 5|guanine nucleotide exchange factor 720|novel PH domain-containing protein|pleckstrin homology domain containing family G member 5|pleckstrin homology domain-containing family G member 5 protein-coding 1605382 PLEKHG6 pleckstrin homology domain containing, family G (with RhoGef domain) member 6 20634288,19421144,18694934,17881735,16721066,14702039,12477932 55200 NM_018173,NM_001144856,NM_001144857,AC006057,CH471116,AF289613,AK001527,AK023741,AK095373,AW001611,BC040273,BC104751,BC105961,BC109095,BU754580 NP_060643,NP_001138328,NP_001138329,EAW88807,EAW88808,EAW88809,EAW88810,AAL55797,BAA91741,BAC04539,AAI04752,AAI05962,AAI09096,Q3KR16 Hs.631660 FLJ10665|MGC126315|MGC126353|MGC126354|MyoGEF PH domain-containing family G member 6|myosin interacting guanine nucleotide exchange factor|myosin-interacting guanine nucleotide exchange factor|pleckstrin homology domain-containing family G member 6 protein-coding 1604901 PLEKHG7 pleckstrin homology domain containing, family G (with RhoGef domain) member 7 12477932,20379614 440107 NM_001004330,AC016136,AK128530,BC137086 NP_001004330,BAC87483,AAI37087,Q6ZR37 Hs.591013 FLJ46688 PH domain-containing family G member 7|pleckstrin homology domain-containing family G member 7 protein-coding 1318086 PLEKHH1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 1580863 16344560,14702039,12477932,10574462 57475 NM_020715,AL132640,CH471061,AB033026,AI792090,AK123262,AK123305,AK124787,AK293950,AK295896,AK307428,BC014159,BC146787,BX648137,BX648464,DA056171 NP_065766,EAW80940,BAA86514,BAG54094,BAG57326,BAG58689,AAH14159,AAI46788,Q9ULM0 Hs.594236 PH domain-containing family H member 1|pleckstrin homology domain-containing family H member 1 protein-coding 1351016 PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 11256614,18752002,16381901,15489336,12477932,11230166,11076863 130271 AK124381,AK126308,AL832207,AL833400,AL833473,AL833546,BC031914,BC063310,NM_172069,AC011242,AB095948 CAI46132,CAD38637,AAH63310,Q8IVE3,CAL37417,NP_742066,BAC23124 Hs.164162 KIAA2028|PLEKHH1L OTTHUMP00000201630|pleckstrin homology domain-containing family H member 2 protein-coding 1602457 PLEKHH3 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 14702039,12477932 79990 AC067852,CH471152,AB208939,AK024672,AK096767,AL137584,BC016062,BC052978,BM194001,CR597371,CR625380,NM_024927 NP_079203,EAW60862,EAW60863,EAW60864,EAW60865,BAD92176,BAB14956,BAG53360,CAB70826,AAH16062,AAH52978,Q7Z736 Hs.632251 FLJ21019 PH domain-containing family H member 3|pleckstrin homology domain-containing family H member 3 protein-coding 1316273 PLEKHJ1 pleckstrin homology domain containing, family J member 1 17353931,15761153,14702039,12477932,11602354,17207965,20098747 55111 AC005263,CH471139,CS300641,AK001159,AK092742,AK097723,AK098725,BC003084,BC008966,CR457253,CR602576,CR605294,CR624555,NM_018049 NP_060519,EAW69405,EAW69406,EAW69407,CAK32305,BAA91525,BAG53521,AAH03084,AAH08966,CAG33534,Q9NW61,ADQ32812 Hs.501353 FLJ10297|GNRPX 9530063M10Rik|PH domain-containing family J member 1|guanine nucleotide releasing protein x|guanine nucleotide-releasing protein x|pleckstrin homology domain-containing family J member 1 protein-coding 1354234 PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 17997709,17404618,16344560,12820725,12477932,9205841,16169070,20070850 9842 NM_014798,NR_027774,NR_027782,AC091132,AC217778,CH471178,AB002354,AJ002220,AK074103,AK299116,AK299467,AL389948,BC053848,BC064361,DB064851,X85792,NG_012932 NP_055613,EAW51526,BAA20813,CAB91652,BAB84929,BAG61171,BAG61433,CAB97526,AAH64361,CAA59791,Q86TP3,Q9Y4G2 Hs.514242 AP162|B2|KIAA0356|OPTB6 162 kDa adapter protein|PH domain-containing family M member 1|pleckstrin homology domain-containing family M member 1 protein-coding 2302829 PLEKHM1P pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene 16344560,12477932 440456 NR_024386,AC103810,AK301174,AK303621,AK304173,AK308180,AL833315,BC034693,DA759804 BAG62761,BAG64630,BAG65056,CAH10578,Q69YJ1 Hs.646585 pseudo 1315942 PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2 737633 15905402,12477932,10048485,16169070 737633 23207 NM_015164,AL121992,AL450998,AL606758,CH471167,AB020649,AL137297,BC008002,BC016488,BC030545,BC040441,BC042103,BC068599,CR597360,CR601577,CR603665 NP_055979,CAI22373,CAI22374,CAH70859,CAH70860,CAH72017,CAH72018,EAW51745,BAA74865,CAB70684,AAH08002,AAH16488,AAH30545,AAH40441,AAH42103,Q8IWE5 Hs.646775 KIAA0842|RP11-169K16.1|SKIP PH domain-containing family M member 2|SifA (Salmonella-induced filaments A) and kinesin-interacting protein|novel RUN and PH domain-containing protein|pleckstrin homology domain-containing family M member 2|salmonella-induced filaments A and kinesin-interacting protein|sifA and kinesin-interacting protein protein-coding 2292191 PLEKHM3 pleckstrin homology domain containing, family M, member 3 19028694,14702039,12477932,20379614 389072 NM_001080475,AC083900,AC093698,AC096772,AF462444,AK057612,AK123204,BC020812,BC042862,BC065842,BC151137,BX538248,BX648983 NP_001073944,AAP97712,BAC85557,AAH20812,AAI51138,Q6ZWE6,AAI56836 Hs.159188,Hs.709906 DAPR|DKFZp686O04200|FLJ41210|PLEKHM1L OTTHUMP00000206645|PH domain-containing family M member 3|differentiation associated protein|pleckstrin homology domain containing, family M, member 1-like|pleckstrin homology domain-containing family M member 3 protein-coding 1604774 PLEKHN1 pleckstrin homology domain containing, family N member 1 16381901,15489336,12477932,11230166,11076863 84069 AL645608,CH471183,AL136730,BC101386,BC101387,NM_032129,NM_001160184 CAI15570,EAW56299,CAB66664,AAI01387,AAI01388,Q494U1,CAL38723,AAI41659,NP_115505,NP_001153656 Hs.528691 DKFZp434H2010|MGC120613|MGC120616|RP11-54O7.7 PH domain-containing family N member 1|pleckstrin homology domain-containing family N member 1 protein-coding 1606003 PLEKHO1 pleckstrin homology domain containing, family O member 1 17942896,17197158,16987810,16713569,16381901,16325375,15831458,15761153,15706351,15489336,15254037,14702039,12477932,11076863,10799509,9373149,8125298,18641638,20171213 51177 NM_016274,AL358073,CH471121,AF073836,AF168676,AF192912,AF217956,AF291105,AK025937,AK125609,AK222921,BC010149,BC023533,CR596096,CR609398,CR611392,CR618253,CR620142,CR621316,CR621946,CR625508,AK302255 NP_057358,CAI14262,CAI14263,CAI14264,EAW53580,EAW53581,EAW53582,EAW53583,AAF13461,AAF89644,AAQ13826,AAK71509,AAK28027,BAD96641,AAH10149,AAH23533,Q53GL0,Q5T4P9,CAL37406,CAL37478,CAL38256,ABM84307,ABM87779,BAG63607 Hs.438824 CKIP-1|OC120|RP11-458I7.3 2810052M02Rik|C-Jun-binding protein|CK2 interacting protein 1; HQ0024c protein|CK2-interacting protein 1|JBP|OC120|PH domain-containing family O member 1|casein kinase 2-interacting protein 1|osteoclast maturation-associated gene 120 protein|pleckstrin homology domain-containing family O member 1 protein-coding 1601963 PLEKHO2 pleckstrin homology domain containing, family O member 2 14702039,12477932 80301 AF217986,AF318373,AF494534,AK096203,AL157457,BC008744,CR591221,NM_025201,AC069368,CH471082,NM_001195059 EAW77697,EAW77698,EAW77699,EAW77700,AAG17229,AAL55880,AAM18053,BAG53230,AAH08744,Q8TD55,Q9HBR5,NP_079477,NP_001181988 Hs.709337 DKFZp761K2312|FLJ38884|PLEKHQ1|PP1628|pp9099 OTTHUMP00000220559|PH domain-containing family O member 2|PH domain-containing family Q member 1|PH domain-containing protein|pleckstrin homology domain containing, family Q member 1|pleckstrin homology domain-containing family O member 2|pleckstrin homology domain-containing family Q member 1 protein-coding 1343043 PLG plasminogen Plasminogen (PLG) is a circulating zymogen that is converted to the active enzyme plasmin by cleavage of the peptide bond between arg560 and val561, which is mediated by urokinase (PLAU; MIM 191840) and tissue plasminogen activator (PLAT; MIM 173370). The main function of plasmin is to dissolve fibrin (see, e.g., FGA, MIM 134820) clots. Plasmin, like trypsin, belongs to the family of serine proteinases (Miyata et al., 1982 [PubMed 6216475]; Forsgren et al., 1987 [PubMed 3030813]).[supplied by OMIM] 1601404,1601405,1580863 19913121,20628086,16601838,16478887,16319056,16229836,16097950,16087677,16043488,15911629,15746964,15677446,15642732,15613921,15609351,15529749,15501816,15489334,15333838,15321992,15299951,15220341,15215240,15211511,15099286,15090462,14769799,14764098,14739293,14739127,14719094,14678821,14574404,12876630,12871329,12736244,12700073,12697748,12692411,12646571,12604689,12477932,12456874,12406896,12228252,12192005,12189145,12093796,12080056,12054798,12036889,12016220,11939791,11928826,11888684,11729324,11371191,11350170,11342539,11263499,11169399,11113116,11100730,11027681,10978167,10974350,10964919,20655859,20702651,20140262,16480936,9242524,1986355,11257124,8910613,14726399,6438154,2318848,2962641,6216475,19308255,19158842,19074676,18983515,18981180,18714035,18685433,18667578,18658146,18568768,18566672,18392331,18366077,18331597,18310038,18289715,18279394,18163891,18160581,18070889,18039838,17978577,17927806,17890952,17656680,17653767,17616171,17606760,17545513,17379720,17272502,17206383,17200769,17115186,16828203,16790522,10956663,10928473,10889192,10700393,10656799,10625689,10604721,10512713,10233898,10218588,10215610,10077593,10069369,9858247,9834305,9783753,9737862,9688635,9596664,9548733,9521645,9490681,9428707,9375744,9360944,9337997,9305949,9234243,9201958,9102221,9054441,9020112,8843739,8652577,8612605,8611560,8555184,8478593,8460120,8392398,8360181,8181476,8181475,8162705,8054447,7982919,7814888,7586586,7548163,7538844,7525077,6919539,6838832,6582496,6238949,6148961,6094526,5475635,4694729,4240117,4226004,3920216,3356193,3334852,3030813,2962191,2829380,2745554,2522013,2437112,2157850,2065054,1939207,1909331,1657149,1657148,1427790,659588,479158,158022,146197,142009,134998,126863,122932,11438139,20346413,20565259,20553606,14699093,15207811,17976375,18223261,18329389,19363026,19465692,19574304,19712047,19800007,19801674,19821587,19850343,20056908,20112045,20143645,20152941,20346360,20095998,20617841,20726765 1601404,1601405 5340 NM_000301,AL109933,AY192161,CH471051,K02921,M34276,AK298338,AK308036,AK312966,BC060513,BU073846,CR749293,K02922,M74220,X05199,DR004070,NG_016200,NM_001168338,HI968587 NP_000292,CAI22907,CAI22908,CAO03489,AAN85555,EAW47591,AAA60123,AAA60113,BAG60586,BAG35805,AAH60513,CAH18148,AAA60124,AAA36451,CAA28831,P00747,Q5TEH5,Q68DS2,Q9UBQ9,Q9UMI2,EAW47592,NP_001161810,CBY88485 Hs.143436 DKFZp779M0222 plasmin|plasminogen protein-coding 1343124 PLGLA plasminogen-like A 10092845,9074645,1986355,1554698 285189 NR_003506,AC114755,M86871,M86872,M86873,U67178 AAA60168,AAB94300,Q9UE70,Q15195 Hs.631263 PLGLA1|PLGP2|PRGA plasminogen pseudogene 2 pseudo 1606837 PLGLB1 plasminogen-like B1 19913121,20628086,15815621,2714803,1986355,1554698,1379800,15489334,12477932 5343 NM_001032392,AC111200,AC125232,M86874,M86875,M86876,BC070296,BC107767,BC109248 NP_001027564,AAY24020,AAY24028,AAA60169,AAI09249,Q02325 Hs.652169,Hs.652174 PLGL|PLGP1|PRGB|PRP-B OTTHUMP00000203509|OTTHUMP00000203511|OTTHUMP00000203512|plasminogen-related protein B|type B plasminogen related protein-coding 1606838 PLGLB2 plasminogen-like B2 15815621,15489334,14702039,12477932,10092845,10069369,9074645,8012354,2714803,1986355,1554698,1379800,19913121,20628086 5342 NM_002665,AC093616,AF075095,AI023399,AK124365,BC005379,BC022294,M93143 NP_002656,AAX82025,AAH05379,AAH22294,AAB06491,Q02325,Q53QL7 Hs.652169 PLGLB1|PLGP1 OTTHUMP00000203594|plasminogen pseudogene 1|plasminogen-related protein B|type B plasminogen related protein-coding 733482 PLIN perilipin The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq] 1303992,1581041,1581042,1580863,737723 9521880,19419682,19399648,19385027,19299455,19077438,19054096,18812483,18806092,18777456,18393390,18356850,18326614,18243128,18201980,18174481,17927964,17353663,16836753,16786163,16732015,16732014,16585946,16567422,16243839,15985482,15961705,15770500,15601970,15601966,15489334,15355432,15111493,15078502,15001633,14527948,12917496,12802495,12477932,12453889,20734064,11751901,20602615,15136565,19638644,19695247,19782423,19850727,20017959,20032580,20163070,20468064,20495294,19797618 1303992,1581041,1581042,737723 5346 NM_002666,NM_001145311,AC013787,CH471101,AB005293,BC031084,BQ003487,CA427560,CB266260,CB266707 NP_002657,NP_001138783,EAX02061,BAA25420,AAH31084,O60240 Hs.103253 PERI|PLIN lipid droplet-associated protein|perilipin-1 2289631,2289635,2289636 BW503_H,BW505_H,BW504_H protein-coding 2881444 PLIN5 perilipin 5 Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM] 12477932,17234449,19602560,19638644 440503 AC011498,AW445065,BC033570,BC131524,BX105717,DQ839131,NM_001013706 AAI31525,ABH07519,NP_001013728,Q00G26 Hs.131034 LSDA5|LSDP5|MLDP|OXPAT lipid storage droplet protein 5|perilipin-5 protein-coding 1353801 PLK1 polo-like kinase 1 (Drosophila) 2299937,2299940,2299939,2299941,2299938,2299942,1580863 11111111,18773538,20819778,21041660,18625707,18616938,18615013,18566290,18560274,18547964,18521620,18477460,18427546,18418051,18391401,18378770,18353325,18331714,18298903,18298087,18297112,18278450,18250300,18174154,18171681,18062778,18056432,17943598,17671160,17635521,17623655,17617734,17610829,17488623,17461553,17446864,17434144,17376779,12147700,20103597,20562859,19855194,20130082,20427271,20534861,20484576,20624918,12493754,15070733,15654075,16439210,18329369,8127874,9177283,10793135,11256614,15678101,11897663,12738781,12939256,15148369,15199097,15469984,19487276,19386263,19289504,19177004,19160488,19152411,19033445,19004025,18980975,18957422,18950845,18922800,18820703,18695677,18694934,18676680,18662541,17360533,17359284,17351902,17351640,17310276,17265445,17218258,17121863,17121839,17102638,16966375,16934469,16930555,16927022,16873548,16865274,16860740,16837776,16760428,16753148,16648550,16630118,16582488,17081991,17005603,16478733,16469711,16378098,16267267,16260496,16254247,16247472,16237758,16198290,16169070,16157594,16127294,15923617,15876876,15855824,15713655,15664519,15661849,15661742,15616186,15611664,15489334,15458642,15350223,15280449,15210710,15190079,15176053,15141022,15125835,15105433,15024021,15015605,14735186,14734534,14654792,14592974,14532005,12852857,12852856,12815053,12732729,12708489,12595692,12592388,12477932,12447691,12442251,12429910,12364337,12242661,12207013,12167714,12082631,12077309,12034729,12024051,11931760,11901158,11854496,11447294,11283617,11242082,11205743,11202906,11194558,11127806,10973490,10191277,9499405,9154840,9083047,8524282,8018557,7962193,7902533,7790358,7478607,10037602,16339216,14647413,15766665,11076968,12221128,16118204,16462731,16885021,16885022,16980960,17253180,17476331,17495026,18195732,19001871,19170196,19351716,19400994,19452252,19458358,19468300,19468302,19473992,19503101,19509060,19543530,19546225,19554017,19596235,19597481,19615732,19625176,19631697,19668228,19692168,19706541,19725153,19738611,19739117,19758559,19775446,19804365,19822658,19833129,20089605,20145140,20146883,20170163,20198330,20508983,19690138,20581060,16481748,19454010,20937827,21079244,20404504,20511645,19821153,20577264,20622363,20656208,20823832,20869364,20470222,20615875,20664522,20679239 2299937,2299940,2299939,2299941,2299938,2299942 5347 NM_005030,AC008870,CH471145,U78073,X90725,AB084459,AB209179,AK303263,AK308276,AK313227,BC002369,BC003002,BC014846,CR593459,CR605293,L19559,U01038,X73458,X75932,FB665815,FB750126 NP_005021,EAW55803,EAW55804,EAW55805,EAW55806,AAB36946,CAA62260,BAD93352,BAD92416,BAG64345,BAG36038,AAH02369,AAH03002,AAH14846,AAA36659,AAA56634,CAA51837,CAA53536,P53350,Q58A51,Q59GD0,ABM81971,ABM85150,CAS92530,CAT02195 Hs.592049 PLK|STPK13 PLK-1|cell cycle regulated protein kinase|polo (Drosophia)-like kinase|polo like kinase|serine/threonine-protein kinase 13|serine/threonine-protein kinase PLK1 protein-coding 1348089 PLK2 polo-like kinase 2 (Drosophila) Serum-inducible kinase is a member of the 'polo' family of serine/threonine protein kinases that have a role in normal cell division.[supplied by OMIM] 1580863 14702039,12972611,12897130,12651910,12477932,11716500,11696980,11039900,10557092,10523297,16169070,12761501,19004816,19001868,17912033,17706602,17671831,16344560,16203730,15489334,20531387,19506885,19706541,19834535,20054236,20056645,20508983,20352051 10769 AC008814,CH471123,AA469989,AF059617,AF223574,AI655395,AK027851,AK098163,AK297298,AK312505,BC013879,BF437296,CR595239,DA020501,U85755,NM_006622,FB665825,FB750136 NP_006613,EAW54972,EAW54973,AAC14573,AAF62897,BAC05247,BAG59766,AAH13879,AAD00575,Q8N7M6,Q9NYY3,ABM84579,ABM86756,CAS92534,CAT02199 Hs.398157,Hs.658132 SNK PLK-2|serine/threonine-protein kinase PLK2|serine/threonine-protein kinase SNK|serum-inducible kinase protein-coding 1350781 PLK3 polo-like kinase 3 (Drosophila) Cytokine-inducible kinase is a putative serine/threonine kinase. CNK contains both a catalytic domain and a putative regulatory domain. It may play a role in regulation of cell cycle progression and tumorigenesis. [provided by RefSeq] 2299942,2299941,1580863 19103756,8702627,18650425,18062778,17804415,9353331,9278512,16955485,18482256,19556223,20508983,17264206,16481012,16478733,16388739,16189514,15671037,15489334,15190214,15021912,14968113,12548019,12493754,12477932,12242661,11971976,11931760,11901158,11709713,11551930,11333986,11039900,10973490,10679924,10673501,10557092,10523297,20473878,20889502,20940307 2299942,2299941 1263 NM_004073,AL592166,AY764184,CH471059,AA421212,AB209875,AJ293866,BC004135,BC004198,BC013899,BC013960,CR607047,U56998 NP_004064,CAI13006,AAU88146,EAX07021,BAD93112,CAC10659,AAH13899,AAC50637,Q59ED6,Q9H4B4,ACE87722,ACE87038 Hs.632415 CNK|FNK|PRK FGF-inducible kinase|PLK-3|cytokine-inducible kinase|cytokine-inducible serine/threonine-protein kinase|proliferation-related kinase|serine/threonine-protein kinase PLK3 protein-coding 1313392 PLK4 polo-like kinase 4 (Drosophila) This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. [provided by RefSeq] 1580863 20032307,16189514,10607900,19454482,19001868,18239451,17681131,16326102,16244668,15967108,15489334,15342556,12477932,11597015,11489907,8274451,20923822,20516151,15761153,11076968,12221128,12852856,16462731,19679553,20348415,20508983,7790358 10733 NM_014264,AC107053,CH471056,AB006972,AK302858,AK303399,AK314238,BC036023,BP328161,BU633758,Y13115,Z25433,AI088969,DC402409,NM_001190799,NM_001190801 NP_055079,EAX05196,BAB69958,BAH13823,BAH13953,BAG36907,AAH36023,CAA73575,CAA80920,O00444,Q15455,ABM85115,NP_001177728,NP_001177730 Hs.172052 SAK|STK18 OTTHUMP00000219883|OTTHUMP00000219884|OTTHUMP00000219885|OTTHUMP00000219886|PLK-4|Snk akin kinase|serine/threonine kinase 18|serine/threonine protein kinase SAK|serine/threonine-protein kinase 18|serine/threonine-protein kinase PLK4|serine/threonine-protein kinase Sak protein-coding 2302687 PLK5P polo-like kinase 5 pseudogene 16344560,15489334,14702039,12477932,10737800,20100802,20210993 126520 NR_026557,AC027307,AK054808,AK122648,BC100791,BC100792,BC100793,BF364682,DA058511,DQ424898 BAG51426,BAG53640,ABD83663 Hs.195352 MGC118807|MGC118808|SgK384ps pseudo 736785 PLLP plasma membrane proteolipid (plasmolipin) 1358792,1580863 17207965,15489334,12477932,11707781,7929173,16344560 1358792 51090 NM_015993,AC009090,AC108081,CH471092,AF137386,AK130584,AK289599,AK313910,BC002760,CR595540,CR611850,DA366260 ADQ32856,NP_057077,EAW82915,EAW82916,EAW82917,AAD33060,BAF82288,BAG36633,AAH02760,Q9Y342 Hs.632215 PMLP|TM4SF11 plasma membrane proteolipid (plasmolipin)|plasmolipin|transmembrane 4 superfamily member 11 (plasmolipin) protein-coding 1349244 PLN phospholamban The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure. [provided by RefSeq] 1580215,1580863 15598648,8406504,19324307,19305409,19305408,19139388,18708665,18241046,18192322,17905829,17766390,17655857,17515962,17010801,17009399,16829191,16476846,16432188,16382369,16235537,16043693,15736939,15640069,15489334,15342556,14530977,12804600,12692302,12639993,12610310,12525698,12480535,12477932,12080135,12032137,11854448,11526231,10809745,10551848,10198197,10096878,9845327,9512019,9468536,9345259,8862513,7779806,7749920,12705874,7586307,3759968,1828805,20639392,21076409,19584346,19587794,19638213,19671701,19708671,19875404,20474083,20634894 1580215 5350 NM_002667,NG_009082,AF177764,CH471051,Z99496,AK311799,BC005269,BP259965,M60411,M63603 NP_002658,AAD55950,EAW48198,CAI21610,BAG34742,AAH05269,AAA60109,AAA60083,P26678,Q5R352,ABM83960,ABM87145 Hs.170839 CMD1P|PLB cardiac phospholamban protein-coding 1353726 PLOD1 procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. [provided by RefSeq] 2314536,1599090 1577494,8449506,15174142,17390085,16758144,16710414,16344560,15979919,15854030,15489334,14565595,12477932,12452796,11956192,10748089,10686424,9738467,9617436,8621606,8163671,7713497,6229534,5027136,1345174,1335016,1184396,1148262,798297,194639,20628624,19442614 2314536,1599090 5351 NM_000302,NG_008159,AF081786,AF490527,AL096840,CH471130,AK124035,AK294688,AK295254,AK299150,AK312243,AK316285,AU139472,BC016657,CR610822,CR611067,M98252 Q9UL44,NP_000293,AAD52693,AAM12752,CAC19722,CAI19083,CAI19084,CAI19085,EAW71724,EAW71725,BAG57849,BAG58243,BAG61199,BAG35176,BAH14656,AAH16657,Q02809,Q5JXB7,Q5JXB8,Q5JXB9 Hs.75093 FLJ42041|LH|LH1|LLH|PLOD lysine hydroxylase|procollagen-lysine, 2-oxoglutarate 5-dioxygenase|procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 protein-coding 1606836 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 2314536 10372558,9271685,8889548,9054364,17353931,15174142,16934803,15955452,15694128,15589118,15523625,15523624,15489334,12881513,12477932,11956192,11334715,10748089,10701773,19913121,20628086,20628624,17643375,19110540,19762917,20131247 2314536 5352 NM_000935,NM_182943,NG_009251,AC092982,AC107021,AF085277,AY026757,CH471052,AB209879,AK125700,AK130098,AK295084,AL832238,BC016834,BC037169,BM724669,BX537521,U84573 NP_000926,NP_891988,AAD40977,AAK20119,EAW78939,EAW78940,EAW78941,BAD93116,BAG54235,BAG58125,AAH16834,AAH37169,AAB58363,O00469,Q96AR9,Q96QU5,Q9Y6D3 Hs.477866 LH2|TLH OTTHUMP00000215206|lysine hydroxylase 2|lysyl hydroxylase 2|procollagen-lysine,2-oxoglutarate 5-dioxygenase 2|telopeptide lysyl hydroxylase protein-coding 1346467 PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq] 1580863,2314536 16447251,16303743,15489334,12853948,12477932,12475640,11956192,11334715,10934207,10686427,9582318,9724729,16189514,18834968,20562859,17643375,18298658 2314536 8985 NM_001084,NG_012148,AC004876,AF207069,CH471197,AF046889,AF068229,AK075338,AK297559,AK298537,AK312743,AL049952,AY220458,BC011674,BC018946,BF941815,CR592883,CR595894,CR612529 NP_001075,AAD45831,AAF63701,EAW50205,AAC39753,AAC34808,BAG52115,BAG59952,BAG60737,BAG35613,CAB43221,AAO61775,AAH11674,O60568,Q9UG85 Hs.153357 LH3 lysine hydroxylase 3|lysyl hydroxylase 3|procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 protein-coding 732304 PLP1 proteolipid protein 1 This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq] 1358559,1358783 7684886,7522741,6083474,4041237,3840606,3768366,3467339,3457761,2773936,2480601,2467009,2449536,2441695,1715570,1711121,1708672,1707231,1384324,1376966,12477932,12325077,12297985,12237860,12196561,12107410,11872612,11093273,10767322,10520936,10417279,10319897,10203813,9934976,9894878,9858696,9788732,9747038,9728768,9633722,9489796,9247276,9143933,9008538,8956049,8909455,8780101,8765335,8696336,8012387,7684945,2479017,19396823,19244236,19151366,19024090,18604471,18555697,18470932,18437021,18190592,17962415,17438221,17420921,17171701,16774974,16416265,16380909,16374829,16287154,16130097,15837131,15772651,15753308,15712223,15694262,15627202,15489334,15450775,15009677,14702039,14572140,12805210,12601703,12491939,7683951,7679906,7573159,7541731,7539213,7531827,6201756,19328639,19376225,19562355,19825935,19955111,20036320,20186781,20437587 1358559,1358783 5354 BT019601,NM_000533,NM_199478,NG_008863,AJ006976,CH471190,D13320,M15032,S55837,S62086,Z73964,AI205189,AK128782,AK292728,AK295374,AK295388,AK308966,AK309239,AK312340,AV731932,BC002665,BC095452,BQ717999,BQ723748,NM_001128834,BT019602,BX445448,CA389667,CR536542,CR605012,DC342996,EB387051,M17085,M27110,M54927 NP_001122306,NP_000524,NP_955772,CAA07364,EAW54690,EAW54691,EAW54692,EAW54693,EAW54694,BAA02577,AAA60350,AAD13880,AAB26927,CAA98191,CAI42028,BAF85417,BAG58333,BAG58342,BAG35261,AAH02665,AAH95452,AAV38408,AAV38409,CAG38779,AAA60118,AAA60117,AAA59565,P60201,Q5U0F2,Q5U0F3,Q9P2Z7 Hs.1787 HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2 lipophilin|major myelin proteolipid protein|myelin proteolipid protein|proteolipid protein|proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) protein-coding 1349250 PLP2 proteolipid protein 2 (colonic epithelium-enriched) 1580863 15474493,9124532,17416750,15862967,15489334,12529377,12477932,9344658,8470895,7622043,16169070,16344560 5355 NM_002668,AF196779,CH471224,U93305,BC109066,CR597618,CR598083,CR607707,CR616824,CR619342,L09604,DB220888,NG_016420 NP_002659,EAW50689,EAW50690,AAB92356,AAI09067,AAA35499,Q04941 Hs.77422 A4|A4-LSB|A4LSB|MGC126187 A4 differentiation-dependent protein|differentiation-dependent protein A4|intestinal membrane A4 protein|proteolipid protein 2 protein-coding 733629 PLRG1 pleiotropic regulator 1 (PRL1 homolog, Arabidopsis) 1580863 17353931,9765207,15635413,15489334,14702039,14576297,12477932,12176931,11544257,11101529,19615732,15342556,19838058,20176811,9731529,20467437,20211142 5356 NM_002669,AC107385,CH471056,AF044333,AK002108,AK304574,AK307997,BC020786,BC036046,BC106004,CR598423,CR600370,CR601633,CR605729,CR606429,CR614678,CR615444,CR618318,CR619619,CR620440,AW291931,BP314297,CR601847,NM_001201564 NP_002660,EAX04940,EAX04941,AAD09407,BAG51016,BAH14218,AAH20786,AAI06005,O43660,NP_001188493 Hs.249996 MGC110980|PRL1|PRP46|PRPF46|Prp46 OTTHUMP00000220178|pleiotropic regulator 1|pleiotropic regulator 1 (PRL1, Arabidopsis homolog) protein-coding 1316159 PLS1 plastin 1 (I isoform) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq] 1580863 8139549,16344560,15342556,12477932,8428952,8336074,7655078,3211125,2111166,12119179,8889548 5357 NM_002670,NM_001145319,AC072028,CH471052,AA933088,AK290316,BC031083,BM263745,BP262012,DA427212,L20826,AC134509,CB240816,NM_001172312 NP_002661,NP_001138791,EAW78965,EAW78966,EAW78967,BAF83005,AAH31083,AAA19869,Q14651,ABW03907,NP_001165783 Hs.203637 Plastin-1 I plastin|fimbrin|intestine specific plastin|intestine-specific plastin|plastin-1 protein-coding 731591 PLS3 plastin 3 (T isoform) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20937953,16115810,17353931,18569641,18440926,16142308,15741236,15489334,15342556,14612505,14567899,12477932,9373149,9302997,8428952,8125298,7806577,4053036,3211125,2378651,12119179 5358 NM_005032,NM_001136025,NG_012518,AC003983,AC005000,AL589842,CH471120,L05491,AK222801,AK294385,AK294509,AK295429,AK298501,AK298530,AK300575,AK311211,AK311397,AK312391,BC008588,BC039049,BC056898,BC150494,BP214207,DC416446,M22299,M34427,DC320695,DC357886,NM_001172335 NP_005023,NP_001129497,CAI39884,EAX02614,AAA61214,BAD96521,BAG57642,BAG57725,BAG58372,BAG60708,BAG60731,BAH13307,BAG35308,AAH08588,AAH39049,AAH56898,AAI50495,AAB02844,AAA36759,P13797,Q53GY0,Q96HI1,ABM82096,ABM85279,NP_001165806 Hs.496622 T-plastin OTTHUMP00000215746|T fimbrin|T plastin|plastin 3 (t-isoform)|plastin-3 protein-coding 1350472 PLSCR1 phospholipid scramblase 1 1580863 16713569,16260419,16091359,15611084,15489334,15308695,15308560,15035622,14766753,14654079,12871937,12605885,12586838,12564925,12477932,12031648,12023963,12010804,12009895,11809687,11390389,10930526,9218461,16189514,19333378,18579528,17712045,10869562,10770950,10753839,9712717,9572851,9485382,8663431,20870722,20516018,19540310 5359 AB006746,AF098642,AK300181,AK313377,BC017901,BC021100,BC032718,BC070251,CR593697,CR607459,CR623341,DR005513,NM_021105,AC069528,AC116544,AF153715,AF224492,CH471052 EAW78928,EAW78929,EAW78930,BAA32568,AAC99413,BAG61960,BAG36175,AAH17901,AAH21100,AAH32718,AAH70251,O15162,Q8WVK1,ABM81805,ABM84959,NP_066928,AAF80593,EAW78923,EAW78924,EAW78925,EAW78926,EAW78927 Hs.130759 MMTRA1B OTTHUMP00000215254|OTTHUMP00000215311|OTTHUMP00000215316|PL scramblase 1|ca(2+)-dependent phospholipid scramblase 1|erythrocyte phospholipid scramblase|phospholipid scramblase 1 protein-coding 1353834 PLSCR2 phospholipid scramblase 2 1580863 19540310,10930526,15489334,12477932 57047 NM_020359,AC069528,CH471052,AF159441,AK301909,BC055415,BC069785,BC120969,BC141969,AA813518,NM_001199978,NM_001199979 NP_065092,EAW78931,EAW78932,AAF91082,BAG63335,AAH55415,AAH69785,AAI20970,AAI41970,Q7Z4L7,Q9NRY7,NP_001186907,NP_001186908 Hs.713866 OTTHUMP00000215258|OTTHUMP00000215259|PL scramblase 2|ca(2+)-dependent phospholipid scramblase 2|phospholipid scramblase 2 protein-coding 1315960 PLSCR3 phospholipid scramblase 3 1580863 15489334,14702039,14573790,12649167,12477932,10930526,18491232,18256029,17226776,16939411,16189514,19540310 57048 NM_020360,AC113189,CQ783273,AF159442,AF289602,AK075188,AK098229,AK124006,AK314643,BC011735,BC028080,BC093026,CR597400,CR600673,CR600989,CR604817,CR618924,CR621218,CR622721,CH471108,BG830095,CX785894,NM_001201576 NP_065093,CAF86478,AAF91083,AAL55786,BAC11458,BAG37205,AAH11735,AAH93026,Q8WYZ0,Q9NRY6,ABM84339,ABM87732,EAW90198,EAW90200,EAW90202,NP_001188505 Hs.655161 PL scramblase 3|ca(2+)-dependent phospholipid scramblase 3|phospholipid scramblase 3 protein-coding 1323284 PLSCR4 phospholipid scramblase 4 1580863 15342556,12477932,18256029,19540310,20379614,10930526,19333378,16344560,16189514,15489334 57088 NM_020353,AC092982,CH471052,AF087887,AF199023,AK128442,AK290214,AK292815,AK312809,AL833760,AW086426,AY550971,BC028354,BI598345,BP201782,DA185957,DA444235,NM_001128306,AW665992,BG538024,BU160106,BU567842,NM_001177304,NR_033438,NR_033439 Q9NRQ2,NP_001121778,NP_065086,EAW78935,EAW78936,EAW78937,EAW78938,AAP97186,AAF89960,BAC87442,BAF82903,BAF85504,BAG35667,CAH56232,AAT52217,AAH28354,Q6ZR73,NP_001170775,ABM92224,ABW03341 Hs.477869 TRA1 Ca(2+)-dependent phospholipid scramblase 4|OTTHUMP00000215195|OTTHUMP00000215198|OTTHUMP00000215199|OTTHUMP00000215200|PL scramblase 4|cell growth inhibiting protein 43|phospholipid scramblase 4 protein-coding 1349492 PLSCR5 phospholipid scramblase family, member 5 12477932 389158 NM_001085420,AC116544,AY436642,BC157886,BC171917,CR591144 NP_001078889,AAR99737,AAI57887,AAI71917,A0PG75 Hs.254692 OTTHUMP00000215327|phospholipid scramblase family member 5 protein-coding 1315460 PLTP phospholipid transfer protein The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1581040,1581038,1581039,1580863,1600654 7654777,19060906,19013296,18660489,20714348,20855565,20972250,20724654,18287097,17921435,17917406,17900150,17761633,17553507,17495597,17303779,17272752,17260960,16862459,16770077,16644710,16520487,16389649,16388083,16335952,16006562,15953936,15924430,15845396,15795933,15544352,15489334,15448094,15166780,14993244,14702039,14695459,14559902,12966036,12893687,12837922,12835223,12810820,12754275,12730304,12693940,12649089,12612088,12531890,12477932,12086920,11861670,11854286,11780052,11716766,10333293,10191289,9624168,9469594,9373149,9110174,8647810,8619474,18421000,8554588,8132678,8125298,7490104,20534134,19913121,20571754,20628086,20644014,20714154,20382708,20088939,20805453,17877759,19100548,19135989,19422933,19446293,19472218,19948975,19965587,20031551,20108050,20167577 1581040,1581038,1581039,1600654 5360 CR599330,CR599835,CR600343,CR600678,CR601132,CR601380,CR603115,CR603810,CR603856,CR604318,CR604806,CR604838,CR606867,CR608163,CR608376,CR608777,CR599059,CR609091,CR609895,CR610029,CR610375,CR611165,CR611353,CR611922,CR612193,CR612436,CR613720,CR613728,CR614141,CR614247,CR614849,CR615147,CR616299,CR617010,CR617131,CR617251,CR617304,CR618175,CR618178,CR618641,CR620390,CR621173,CR621817,CR625284,L26232,NM_182676,NM_006227,NG_012115,AL008726,AY509570,CH471077,U38950,AB076694,AF052157,AK092397,AK092523,AK097009,AK222690,AK289371,AK293150,AK299181,BC005045,BC019847,BC019898,CR590475,CR590500,CR591380,CR592030,CR593086,CR593296,CR593911,CR595084,CR595598,CR596763,CR597431,CR597556,CR598231 AAA36443,P55058,Q53H91,ABM82724,ABM85907,NP_872617,NP_006218,CAA15499,CAC36020,AAR87775,EAW75781,EAW75782,EAW75783,EAW75784,EAW75785,EAW75786,EAW75787,BAB79630,BAG53407,BAD96410,BAF82060,BAG56696,BAG61226,AAH05045,AAH19847,AAH19898 Hs.439312 HDLCQ9 OTTHUMP00000031679|OTTHUMP00000214866|lipid transfer protein II|phospholipid transfer protein protein-coding 736029 PLUNC palate, lung and nasal epithelium associated This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The exact biological function of this gene is not known, however, it has been suggested to be involved in inflammatory responses to irritants in the upper airways. It may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only two is known. [provided by RefSeq] 1580863 18646695,19541605,19650845,17988392,17785110,16713569,16364440,16195890,15489334,15313462,15158712,12975309,12920053,12874788,12753706,12477932,12409287,11821380,11788998,11780052,11251963,11018263,11971875,11425234,19336370,18513434,18245229,18204429,18049866,17207965,20161732 51297 NM_130852,NM_016583,AF214562,AF421369,AL121901,CH471077,AB024937,AF158745,AF172993,AF417256,AF417257,AF439448,AK292778,AY359020,BC012549,DQ846869 NP_570913,NP_057667,AAG13653,AAO12200,CAC03549,EAW76327,EAW76328,EAW76329,BAA93633,AAF82622,AAF70860,AAO12198,AAL87636,BAF85467,AAQ89379,AAH12549,ABI63356,Q9NP55,AAO12199,ADQ31860 Hs.211092 LPLUNC3|LUNX|NASG|SPLUNC1|SPURT|bA49G10.5 ligand-binding protein RYA3|lung-specific protein X|nasopharyngeal carcinoma-related protein|palate lung and nasal epithelium clone protein|palate, lung and nasal epithelium carcinoma associated|protein Plunc|secretory protein in upper respiratory tracts|tracheal epithelium enriched protein|tracheal epithelium-enriched protein|von Ebner protein Hl protein-coding 1353643 PLVAP plasmalemma vesicle associated protein 16278383,15971170,15489334,15155804,14702039,12477932,12475376,11401446,10366592,18029348,19420356,20979949,17207965 83483 NM_031310,AC010319,AC010463,CH471106,AF326591,AF348827,AK074054,AK096030,AK313837,AL834363,BC050365,BC056414,CR590412,D83199 NP_112600,EAW84600,AAK11226,AAK20040,BAB84880,BAC04681,CAD39027,AAH50365,AAH56414,Q9BX97,ADQ32218 Hs.107125,Hs.720196 FELS|PV-1|PV1|gp68 fenestrated endothelial-linked structure protein|fenestrated-endothelial linked structure protein; PV-1 protein|plasmalemma vesicle protein 1|plasmalemma vesicle-associated protein protein-coding 1352937 PLXDC1 plexin domain containing 1 1580863 10947988,18316703,17560052,16344560,15574754,15489334,14702039,12477932,11559528,9110174,8619474,16574105,20032373,20379614 57125 NM_020405,AC004408,AC091178,CH471152,AF070526,AF279144,AF378753,AK093589,AK127539,AK303699,AK312999,AL833517,AY704670,AY704671,AY704672,BC036059,DA205327 NP_065138,EAW60551,EAW60552,EAW60553,AAG00869,AAL11990,BAG52742,BAC87025,BAG64685,BAG35835,AAV85657,AAV85658,AAV85659,AAH36059,Q6ZSC8,Q8IUK5,ACE87466,ACE86780 Hs.125036 DKFZp686F0937|FLJ36270|FLJ45632|TEM3|TEM7 2410003I07Rik|plexin domain-containing protein 1|tumor endothelial marker 3|tumor endothelial marker 7 protein-coding 1314300 PLXDC2 plexin domain containing 2 16335952,15574754,15489334,15164054,14702039,12975309,12477932,11559528,16385451,19625618,20379614 84898 NM_032812,AC067743,AC069549,AL157397,AL353147,CH471072,AF378757,AK027529,AK304591,AY358486,BC012885 NP_116201,CAH71083,CAH71084,EAW86177,EAW86178,EAW86179,AAL11994,BAB55178,BAG65379,AAQ88850,AAH12885,Q6UX71 Hs.658134 FLJ14623|TEM7R 1200007L24Rik|OTTHUMP00000019266|plexin domain-containing protein 2|tumor endothelial marker 7-related protein protein-coding 1342576 PLXNA1 plexin A1 1580863 8570614,10520995,19240061,19176370,18161927,16641997,15187088,14977921,14702039,14500350,12559962,12477932,12093729,11784792,11239433,11230166,11108845,10520994,11604131,16715077,17520388,19480842,21116278 5361 NM_032242,AC011199,CH471052,AK054675,AK055605,AK126101,AK127254,AK128612,AK293425,AL136663,BC017323,BC032432,BC042904,BQ920360,X87832,AI472001 NP_115618,EAW79349,EAW79350,EAW79351,BAC86440,BAG54700,BAG56931,CAB57274,Q6ZTY7,Q9NSM6,Q9UIW2,AAI56130,AAI57021 Hs.432329 DKFZp761P19121|NOV|NOVP|PLEXIN-A1|PLXN1 plexin 1|plexin-A1|semaphorin receptor NOV protein-coding 1313288 PLXNA2 plexin A2 This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq] 1580863 12421765,19666519,19367581,18628988,18096369,18065206,17346868,17339520,16932874,16402134,16344560,15818466,15489334,14702039,12975309,12477932,10520995,9455484,8570614,20633049,11604131,18583979,19480842,20379614,20455246 5362 NM_025179,AL356275,AL590138,AL606753,CH471100,AB007932,AK021813,AK055196,AK094259,AK094367,AK125154,AL544219,AY358496,BC006193,BC009343,BC032125,BC094835,BC132676,BC136530,CR621426,DA500239,H11743,X87831 NP_079455,CAI40198,CAI39808,EAW93457,BAA32308,BAB13902,BAB70871,AAQ88860,AAH06193,AAH09343,AAI32677,AAI36531,CAB57275,O75051,Q96DQ4,Q9HAE7 Hs.497626 FLJ11751|FLJ30634|KIAA0463|OCT|PLXN2 plexin 2|plexin-A2|semaphorin receptor OCT|transmembrane protein OCT protein-coding 1349180 PLXNA3 plexin A3 1580863 8570614,15203218,15146197,10737800,10520995,8806646,8733135,8281148,8248200,11604131,19480842 55558 NM_017514,BX936365,CH471172,BF798844,CB528571,CD365141,CD628272,CN427843,CN427844,CN427848,X74609,X87852,NG_021298 NP_059984,CAI43194,EAW72702,EAW72703,CAA61132,P51805,AAI56374,AAI72494 Hs.632839 6.3|HSSEXGENE|PLEXIN-A3|PLXN3|PLXN4|SEX|XAP-6 Sex chromosome X transmembrane protein of HGF receptor family 3|plexin-4|plexin-A3|semaphorin receptor SEX protein-coding 1351830 PLXNA4A plexin A4, A 1580863 15489334,14702039,12975309,12853948,12690205,10997877,10520995,9074931,12110185 57671 AB046770,CH236950,AA076688,AA076883,AA076904,AA077578,AA077700,AK092345,AK095606,AL834504 BAB13376,EAL24077,BAC03866,BAC04587,CAD39161,Q8NAP5,Q9HCM2 Hs.511454 DKFZp566O0546|FLJ35026|FLJ38287|PLEXA4|PLXNA4 protein-coding 1602663 PLXNA4B plexin A4, B 12975309,12477932 91584 NM_181775,AC009365,AC009785,AC026239,CH236950,CH471070,AK123428,AL137352,AY358850,BC028744 NP_861440,EAL24076,EAW83793,EAW83794,EAW83795,EAW83796,BAC85615,CAB70707,AAQ89209,AAH28744 Hs.675491 DKFZp434G0625|DKFZp434G0625PRO34003|FAYV2820|PRO34003 protein-coding 1321541 PLXNB1 plexin B1 1580863 19483722,15642257,15297673,20877282,20610402,10520995,19444311,19367581,18417270,18321527,18279812,18275816,18025083,18024597,17916560,17855350,17383649,16335952,16055703,15929008,15632204,15210733,15184888,14702039,12730235,12533544,12477932,12406905,12220504,12198496,12196628,12183458,12123608,11937491,11035813,9455477,8570614,12559962,16188938,19805522,19843518,19940359,20040080,20164843 5364 NM_001130082,NM_002673,AC104448,CH471055,AB007867,AJ011414,AJ011415,AK091832,AK092609,AK296776,BC066773,BC128094,BC129947,BC146793,X87904 NP_001123554,NP_002664,EAW64864,EAW64865,EAW64866,BAA23703,CAB56221,CAB56222,BAG52423,BAG52582,BAG59355,AAI28095,AAI46794,CAB57277,O43157 Hs.476209 KIAA0407|MGC149167|PLEXIN-B1|PLXN5|SEP OTTHUMP00000210033|plexin 5|plexin-B1|semaphorin receptor SEP protein-coding 1313554 PLXNB2 plexin B2 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM] 1580863 18029348,16303743,15489334,15146197,14702039,12533544,12477932,12183458,10591208,10520995,9205841,8593609,7889532,16169070,12123608,12730235,15184888,19805522 23654 NM_012401,AL022328,BX649592,CR790389,CT010163,AB002313,AB075511,AK025415,AK025701,AK056543,AK074932,AK123131,AK126394,BC000221,BC004542,BC110366,BC127770,BC148225,BC148280,BT006887,CN388620,CR596523,CR612059,S76730 NP_036533,CAO03495,CAO03496,CAO03497,CAO03498,CAO03500,BAA21571,BAE45757,AAH04542,AAI10367,AAI27771,AAP35533,AAB33781,O15031,Q16293,Q2TBE4,Q3LIB1,AAI72440 Hs.3989 KIAA0315|MM1|Nbla00445|PLEXB2|dJ402G11.3 OTTHUMP00000196636|plexin-B2 protein-coding 1350171 PLXNB3 plexin B3 1334509,1580863 19329067,17033634,16122393,15790807,15218527,15184888,12183458,10574462,10520995,8661155,12123608,20696765,12421765 1334509 5365 NM_005393,NM_001163257,CH471172,U52111,AB033032,AF149019,AK292535,AK295762,AK295849,AK295894,AK296538,AK304705,AK307894,AY927551,NG_013255 NP_005384,NP_001156729,EAW72815,BAA86520,AAG01376,BAF85224,BAH12182,BAH12202,BAH12215,BAH12382,BAH14241,Q9ULL4,AAI72435 Hs.632833 FLJ76953|PLEXB3|PLEXR|PLXN6 plexin 6|plexin-B3 protein-coding 1316607 PLXNC1 plexin C1 1580863 9586637,19318806,18987670,18628988,17671519,17081983,12477932,10520995,9110174,8619474,15746246,17910043,19462467,20727575 10154 NM_005761,AC073655,AC123567,CH471054,AB208934,AF030339,AK295226,AK304327,AK307920,AK308985,BC029934,AA609130,AF035307,NR_037687 NP_005752,EAW97500,BAD92171,AAC18823,BAG58219,BAH14160,O60486,AAI48591,AAI56868 Hs.584845 CD232|PLXN-C1|VESPR plexin (semaphorin receptor)|plexin-C1|receptor for viral semaphorin protein|receptor for virally-encoded semaphorin|virus-encoded semaphorin protein receptor protein-coding 1321904 PLXND1 plexin D1 18974298,16335952,15489334,15301830,12477932,12421765,12412018,10520995,9734811,15239958,20664171,15550623,17318185,19703316,20385769 23129 NM_015103,AC023162,AC080007,CH471052,AB014520,AK026388,AK299425,AY116661,BC003526,BC011848,BC030110,BC044228,BC062465,BC150280,BU527983,CR597167,CR620577,CX761094 NP_055918,EAW79238,EAW79239,EAW79240,BAA31595,BAG61405,AAM49063,AAH03526,AAH11848,AAH44228,AAH62465,AAI50281,Q6P657,Q86YC4,Q9Y4D7 Hs.301685 KIAA0620|MGC75353|PLEXD1 plexin-D1 protein-coding 1602433 PM20D1 peptidase M20 domain containing 1 14702039,12477932,16344560,19915576 148811 NM_152491,AC119673,CH471067,AK057131,AK290786,BC039170,BC063477,BI832659,BM987801,DA387977 NP_689704,EAW91584,EAW91585,BAB71368,BAF83475,AAH39170,AAH63477,Q6GTS8 Hs.177744 Cps1|FLJ32569 peptidase M20 domain-containing protein 1|probable carboxypeptidase PM20D1 protein-coding 1317289 PM20D2 peptidase M20 domain containing 2 14702039,12477932 135293 NM_001010853,AL353135,CH471051,AK094996,AK127529,AK302464,BC035036,BC045583,BX640865 NP_001010853,CAI16248,EAW48559,BAG63754,AAH35036,AAH45583,CAE45925,Q8IYS1 Hs.356247 ACY1L2|bA63L7.3 aminoacylase 1-like 2|aminoacylase 1-like protein 2|aminoacylase-1-like protein 2|peptidase M20 domain-containing protein 2 protein-coding 1347426 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 1580863,2314029,2314140 20694148,15694340,15901672,15705586,19540835,19452318,19372561,19298224,19269851,19164757,19148187,18784742,18708163,18630524,18408751,18398749,18354037,18231856,18192275,17227835,17216584,17038534,16928686,16888645,16782027,15572378,15489334,15299072,15102863,14699081,14500711,12879012,12477932,11181995,10807576,2398525,16169070,15856024,21048031,20393480,21145489,20802529,16697956,17599062,19515722,19815839,20051518,20085765,20156337,20223826 2314029,2314140 5366 NM_021127,AC107990,CH471096,AK311943,BC013120,BC032663,BF667112,BM999509,CR591391,D90070 NP_066950,BAG34884,AAH13120,AAH32663,BAA14111,Q13794,Q8N589 Hs.96 APR|NOXA PMA-induced protein 1|adult T cell leukemia-derived PMA-responsive|immediate-early-response protein APR|phorbol-12-myristate-13-acetate-induced protein 1|protein Noxa protein-coding 731886 PMCH pro-melanin-concentrating hormone 1580863,1624360,1642486,1642484 1572663,8326825,19086053,19068116,18650383,18498421,17640905,17541984,15870910,15546902,12885269,12477932,12220661,12176038,12106685,11839762,11483240,11478907,11122347,10037747,9191099,8770919,8188237,2149166,11416225,11404457,11274220,19893584,16754659,2834384 1624360,1642484 5367 NM_002674,AC087882,CH471054,S63697,AV723033,BC018048,CB047053,M57703 NP_002665,EAW97693,AAB27493,AAH18048,AAA63214,P20382,ABM83261,ABM86466 Hs.707990 MCH pro-MCH 1643258,1643266,1643270,1643277 BW205_H,BW201_H,BW198_H,BW203_H protein-coding 1353662 PMCHL1 pro-melanin-concentrating hormone-like 1 1580863 8188237,11070051,11181993,19068116,8188237,8326825,9729295 5369,5369 AC139463,NR_003921,AF227988,S64288,AY008407,AY008408,AY008409,AY008410,AY008411,EU938381,AC139497,AY028318 AAB27494,AAF86356,AAK31288,AAK31289,AAK31291,AAK31292,AAK31293,AAK31294,AAK31295 Hs.247975 pseudo 1346499 PMCHL2 pro-melanin-concentrating hormone-like 2 1580863 19068116,11181993,11070051,8188237 5370 NR_003922,AC139463,AC145141,AF238383,AY028320,AY008412,AY008413 AAK31290,AAK31296,AAK31297,Q9BQD1 pseudo 1317924 PMEPA1 prostate transmembrane protein, androgen induced 1 2315106,2315108,2315107,1580863 10873380,18703514,18174752,16713569,15489334,14639658,12670906,12477932,11780052,11568975,11042109,12907594,20610632,16341674 2315106,2315108,2315107 56937 NM_199171,NM_199169,NM_199170,NM_020182,AF305426,AL035541,AL121913,AL161943,CH471077,AF224278,AF305616,AJ308020,AJ308021,AK024618,AK296199,AL732104,AY128643,BC015918,BC025361,BC080635,BM846677,BQ690750,CR612083 NP_954640,NP_954638,NP_954639,NP_064567,AAL09357,CAI23105,CAI23106,CAI19031,CAI19032,EAW75504,EAW75505,EAW75507,EAW75506,EAW75508,AAF86322,AAL16781,BAG58927,AAM89277,AAH15918,AAH80635,Q66K30,Q8NER4,Q969W9 Hs.517155 STAG1|TMEPAI OTTHUMP00000174283|OTTHUMP00000174284|solid tumor-associated 1 protein|transmembrane prostate androgen-induced protein|transmembrane, prostate androgen induced RNA|transmembrane, prostate androgen induced rna protein-coding 1317520 PMF1 polyamine-modulated factor 1 1580863 17213182,15502821,10419538,16585270,19088041,16710414,15489334,14702039,12477932,12020345,11256947,16169070,15371340 11243 DC310420,DT220098,NM_001199653,NM_001199654,NM_007221,AF141309,AL135927,CH471121,AF141310,AK022523,AK124646,AK289490,AK290260,AK307287,AK310694,AL080101,BC050735,BC056417,BC065031,CR616631 NP_001186582,NP_001186583,EAW52990,NP_009152,AAD50080,CAI15535,CAI15536,EAW52989,AAD50081,BAC85916,BAF82179,BAF82949,CAH10730,AAH50735,AAH56417,AAH65031,Q5TCK1,Q6P1K2,Q6ZVE6,ACE87679,ACE86990,CAI15540 Hs.530479 Est1p-like protein B (EST1B)|polyamine-modulated factor 1 protein-coding 1345041 PMFBP1 polyamine modulated factor 1 binding protein 1 18029348,16381901,16344560,15489336,14702039,12477932,11468771,11230166,11076863,10493829 83449 AF239683,AK093285,AK097465,AK122925,AK315004,AL136795,BC028423,DB019901,DB082449,NM_031293,NM_001160213,AC004682,CH471166 EAW59177,EAW59178,EAW59179,AAK15456,BAC04121,BAG53801,BAG37499,CAB66729,AAH28423,Q8TBY8,CAL37772,ABZ92204,NP_112583,NP_001153685,EAW59175,EAW59176 Hs.714939 DKFZp434G131|FLJ40146 PMF-1 binding protein|PMF-1-binding protein|polyamine-modulated factor 1-binding protein 1 protein-coding 1345145 PML promyelocytic leukemia The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20544846,19204783,19690564,20639899,20719947,17428679,17419608,17360386,17173041,17172828,17146439,17081985,17081983,17062732,17027752,16935935,16924230,16916642,16912307,16909106,16873257,16873256,16818720,16797070,16778193,16630218,16540467,16501610,16501113,16449642,16432238,16307818,16154611,16113082,19380586,19339552,19224461,19150978,19111660,19100514,19074885,19029980,19023333,19015637,18945770,18856066,18833293,18812519,18809579,18755984,18716620,18689862,18664490,18636556,18625722,18621739,18566754,18511908,18480450,18463162,18246126,18246125,18160400,18158568,18056407,18039859,17996922,17991421,17960172,17943164,17942542,17878236,17822314,17767548,17562868,17543368,17475621,9230084,12915590,17332504,16915281,9448006,9412458,11331580,10910364,18298799,123456,15195100,19487292,19863682,20881960,20501696,11430826,11259576,11175338,11158586,11080164,11025664,10938104,10806494,10684855,10669754,10610177,10597310,10525530,10077561,9819401,9756909,9671405,9583681,9570750,9452416,9420283,9294197,8806687,8394219,8380300,8274203,7935403,7780148,7729428,1720570,1652369,1652368,1594241,1312695,1311253,18708055,11244500,18691969,16007146,15968309,15922731,15855159,15809060,15749021,15746941,15735755,15626733,15601827,15589835,15569683,15467728,15459016,15359634,15356634,15331439,15273249,15194430,15184504,15163746,15136035,15096541,15060166,14992722,14976184,14970276,14970191,14715247,14663483,14645235,14630830,14597990,14597622,14534537,14528266,14526201,14507915,12950020,12935927,12917339,12907596,12837286,12810724,12773567,12759344,12727882,12717420,12691149,12647219,12622724,12610143,12595526,12540841,12506025,12506013,12505266,12477932,12438698,12419228,12402044,12384561,12354770,12234245,12186918,12167712,12142048,12093737,12080044,12060771,12032831,12032336,12006491,11948183,11940591,11907221,11891284,11832207,11704853,11704850,11585900,11500381,11432836,11430827,14702039,20578240,20159609,20159610,16412420,16449650,18644863,21205865,19567472,20211142,20699642,20800603,20574048,20625391,15017387,15231068,15350595,15576338,16873060,17030982,18024792,18029348,19322209,19553342,19597475,19703418,19728758,19808906,19851296,19861416,19865110,20097304,20100838,20123968,20130140,20133705,20155840,20181954,20198315,20228380,20379614,8643677,9395203,9671498,9885291,20826694 5371 BC034251,BC139795,BF510860,BT009911,BX647287,CR602508,M73778,M79462,M79463,M79464,M80185,S50913,X63131,NM_002675,NM_033249,NM_033246,NM_033244,NM_033240,NM_033239,NM_033250,NM_033247,AC013486,AC108137,CH471082,S51489,S68527,X64800,AB208950,AB209051,AB209411,AF230401,AF230402,AF230403,AF230404,AF230405,AF230406,AF230407,AF230408,AF230409,AF230410,AF230411,AF370432,AK026871,AK096663,AK300256,BC000080,BC020994,NM_033238 AAH20994,AAI39796,AAP88913,AAA60125,AAA60388,AAA60351,AAA60390,AAA60352,AAB19601,CAA44841,P29590,Q05835,Q15959,Q59FP9,Q59GQ8,Q59H09,Q71RA7,Q9BPW2,Q9BWP7,Q9BZX6,Q9BZX7,Q9BZX8,Q9BZX9,Q9BZY0,Q9BZY1,Q9BZY2,Q9BZY3,Q9UE85,NP_150241,NP_002666,NP_150252,NP_150249,NP_150247,NP_150243,NP_150242,NP_150253,NP_150250,EAW77946,EAW77947,AAD13865,AAB29490,CAA46026,BAD92187,BAD92288,BAD92648,AAG50180,AAG50181,AAG50182,AAG50183,AAG50184,AAG50185,AAG50186,AAG50187,AAG50188,AAG50189,AAG50190,AAQ15268,BAG62021,AAH00080 Hs.526464 MYL|PP8675|RNF71|TRIM19 RING finger protein 71|probable transcription factor PML|promyelocytic leukemia protein|promyelocytic leukemia, inducer of|tripartite motif protein TRIM19|tripartite motif-containing protein 19 protein-coding 1322064 PMM1 phosphomannomutase 1 Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq] 1580863 9070917,18927083,18591914,17186415,17054774,16540464,16189514,15489334,15461802,14702039,12789572,12477932,10591208,10085245,9603909,9376685,9271215,9119384 5372 NM_002676,AL023553,CH471095,AK094811,AK130449,AK289368,AK316580,BC010855,BC016818,CR456544,CR592905,CR597903,CR605453,CR625637,D87810,U62526,U86070 NP_002667,CAB46025,EAW60443,EAW60444,BAF82057,BAG38168,AAH10855,AAH16818,CAG30430,BAA13460,AAC51117,AAC00023,Q92871,CAK54575,CAK54874 Hs.75835 Sec53 PMM 1|PMMH-22|brain glucose-1,6-bisphosphatase|phosphomannomutase 1 protein-coding 1319677 PMM2 phosphomannomutase 2 The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq] 1599132,1599134,1580863 9140401,18203160,17694350,17451957,17307006,17166182,15844218,15489334,15342340,13129599,12905014,12477932,12357336,11935250,11891694,11875054,11701646,11404002,20800603,11350185,11058896,11058895,10922383,10801058,10737800,10602363,10571956,10527672,10066032,9887379,9781039,9497260,9425221,9070917,8889548,7874123,19235233,20638314 1599132,1599134 5373 NM_000303,NG_009209,AC012173,AF157796,CH471112,AB209659,AK291537,AK311035,AK312532,BC008310,BF811414,BM973590,DC366756,U85773,AK296630,AK299979,AK300785,AK304320 AAC51368,O15305,Q59F02,NP_000294,AAD45895,EAW85200,EAW85201,EAW85202,EAW85203,BAD92896,BAF84226,BAG35431,AAH08310,BAH12405,BAH13187,BAH13346,BAH14158 Hs.659263,Hs.625732 CDG1|CDG1a|CDGS|PMM 2 phosphomannomutase 2 protein-coding 1347812 PMM2P1 phosphomannomutase 2 pseudogene 1 9425221 5374 4144671 PMM2P2 phosphomannomutase 2 pseudogene 2 646065 AP005264,NG_022477 pseudo 1316684 PMP2 peripheral myelin protein 2 1580863 15489334,15252450,12477932,11241848,8288226,7525873,6206203,6183401,6172423,2458918,2453513,1720307 5375 NM_002677,AC018616,CH471068,D16181,S73470,AK307118,AK311758,BC034997,CF455669,CR541649,CR541738,DQ786226,X62167 NP_002668,EAW87090,BAA03726,AAB32592,BAG34701,AAH34997,CAG46450,CAG46538,CAA44096,P02689,Q6FHL4,ABM82432,ABM82433,ABM85623 Hs.571512 FABP8|M-FABP|MP2|P2 myelin P2 protein protein-coding 69112 PMP22 peripheral myelin protein 22 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. [provided by RefSeq] 1580863,1358786,1358560 19913121,20628086,20538960,20842290,19290556,19447823,19493167,19705173,19830275,19909487,19930872,20093502,19888301,1497668,1349106,1303281,1303231,1303229,1303228,1303210,1297450,954484,8275092,19259128,18795802,18698610,18642376,18592125,18438698,18353535,17917930,17620487,17824619,16912585,17707409,16683188,16481890,16463004,16437560,16436605,16326107,16215943,16199442,15955700,15891642,15786462,15755691,15564036,15555916,15489334,15205993,15099592,15099590,15083696,15050444,14581692,12823620,12796555,12578939,12497641,12477932,12439896,12402337,12211648,12207933,12119418,11835375,11545686,11456309,11438991,11140841,10982389,10806367,10737979,10704444,10697408,10663978,10632107,10489052,10330345,10212299,9888385,9748013,9633821,9585367,9544841,9187667,9055797,9040744,9040737,9004143,8995589,8988161,8786387,8777804,8655153,8615087,8541860,8510709,8500795,8482547,8422677,8252046,8105684,8012388,7929285,7825607,7762451,7728152,7675244,7518101,1835375,1822787,1721895,1677316,1556154,10211478,1552542,1552536,20453308 1358786,1358560 5376 NM_153321,NM_000304,NM_153322,NG_007949,AC005703,AF059314,CH471108,U08049,U08096,AK290640,AK300690,BC019040,BC091499,CR541931,CR541953,CR592810,CR593633,CR597127,CR597311,CR598725,CR602788,CR602976,CR603134,CR604376,CR604692,CR604834,CR605458,CR608530,CR610349,CR611493,CR611595,CR612069,CR615033,CR615858,CR618437,CR618628,CR618649,CR621373,CR622251,CR624540,D11428,L03203,M94048,S61788,X65968 NP_696996,NP_000295,NP_696997,EAW89946,EAW89947,EAW89948,EAW89949,BAF83329,BAG62373,AAH19040,AAH91499,CAG46729,CAG46751,BAA01995,AAA58495,AAA36457,AAB26811,CAA46781,Q01453,Q6FH25,ABM83549,ABM86789 Hs.372031 CMT1A|CMT1E|DSS|GAS-3|HMSNIA|HNPP|MGC20769|Sp110 OTTHUMP00000064924|PMP-22|growth arrest-specific 3|growth arrest-specific protein 3|peripheral myelin protein 22 protein-coding 1346872 PMPCA peptidase (mitochondrial processing) alpha 1580863 7788527,10942759,9299349,15489334,15188402,14702039,12477932,11840567,8590280,7836378,11256614,18029348,19615732,20877624 23203 NM_015160,AL592301,CH471090,AK091455,AK129769,AK296617,AK299304,AK307206,AK308104,BC004342,BC022949,BC033103,BC111399,BC114360,BC132724,BC136599,CR625519,D21064,D50913,CR592081 NP_055975,CAI13944,CAI13945,CAI13946,EAW88232,BAC85231,BAG59225,BAG61317,AAH04342,AAH22949,AAH33103,AAI11400,AAI14361,AAI32725,AAI36600,BAA04643,BAA09472,Q10713,Q5SXM9,Q5SXN0,Q5SXN9,Q6ZP88,Q9BT52 Hs.495471 Alpha-MPP|FLJ26258|INPP5E|KIAA0123|MGC104197 P-55|inositol polyphosphate-5-phosphatase, 72 kD|mitochondrial matrix processing protease, alpha subunit|mitochondrial-processing peptidase subunit alpha protein-coding 733027 PMPCB peptidase (mitochondrial processing) beta This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq] 1298632,1580863 15489334,15342556,14702039,12853948,12477932,12186850,11042152,10942759,10545606,9700204,9653160,16169070,20877624,19580345 1298632 9512 CR608633,CR611191,CR614942,CR617716,CR622114,CR622378,NM_004279,AC004668,CH471070,AF054182,AI261792,AK000994,AK057656,AK090763,AK098616,AK289864,AK297354,AK309928,AL050216,BC010398,BC014079,BP311561,BQ021474,CR594265,CR595035,CR597439,CR599164,CR602632,CR602907 O75439,Q96CP5,Q9UG64,ABM83839,ABM87161,NP_004270,EAW83325,EAW83326,EAW83327,EAW83328,AAC39915,BAG50846,BAG51947,BAF82553,BAG59802,CAB43319,AAH14079 Hs.184211 Beta-MPP|MPP11|MPPB|MPPP52|P-52 OTTHUMP00000211708|mitochondrial processing peptidase beta|mitochondrial processing peptidase beta subunit|mitochondrial-processing peptidase subunit beta protein-coding 1346392 PMPS Pearson marrow pancreas syndrome 5377 1349068 PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq] 2306716,2306714,1599137,1580863,2324870 20004149,8072530,19430479,19237606,19115210,19064572,19012493,18723338,18676680,18484899,18364438,17494052,17148452,16774946,16136382,15856462,15226443,12477932,11999575,11809883,11292842,10828585,10480359,10459502,9500994,8889548,8666228,8128251,7980603,12799449,10748159,19170196,19609347,19625176,19692168,20414254,20496165 2306716,2306714,1599137,2324870 5378 NM_001128143,NM_001128144,NG_008648,AB006462,AC008122,AC013468,AY267352,CH471058,U13695,AB102869,AB102870,AB102871,AB102872,AB102873,AB102874,AB102875,AB102876,AB102877,AK295602,AK297440,NM_000534,AK308311,AK304634,AK316215,AY540750,AY540751,BC008410,BC036376,BC084548,BC096330,BC096331,BC096332,BM553209,BM677668,BM800196,BT006947,CR610658,CR749432,DC347859 NP_000525,NP_001121615,NP_001121616,AAO89079,EAX10883,EAX10884,EAX10885,AAA63922,BAD89398,BAD89399,BAD89400,BAD89401,BAD89402,BAD89403,BAD89404,BAD89405,BAD89406,BAG58489,BAG59866,BAG65413,BAH14586,ABB04019,ABB04020,AAH84548,AAH96330,AAH96331,AAH96332,AAP35593,CAH18270,Q3BDU3,Q3BDU4,Q4VAL4,Q5FBZ1,Q5FBZ2,Q5FBZ3,Q5FBZ4,Q5FBZ5,Q5FBZ6,Q5FBZ7,Q5FBZ8,Q5FBZ9,Q5XG96,Q68DF0,P54277 Hs.111749 DKFZp781M0253|FLJ98259|HNPCC3|PMSL1|hPMS1 DNA mismatch repair protein PMS1|OTTHUMP00000205716|OTTHUMP00000205720|OTTHUMP00000205723|OTTHUMP00000205724|OTTHUMP00000205725|PMS1 protein homolog 1|human homolog of yeast mutL|mismatch repair gene PMSL1|rhabdomyosarcoma antigen MU-RMS-40.10B|rhabdomyosarcoma antigen MU-RMS-40.10E 2303086 MAMTS44_H protein-coding 1313536 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq] 2315025,2306716,2315028,2293505,2315026,2306714,1599141,1599142,1599137,1580863 20698049,10871409,16403449,11793469,11809883,19526325,19244167,19237606,19155293,19132747,19115210,19064572,18841495,18824584,18768816,18723338,18676680,18619468,18602922,18376293,18364438,18307725,18273873,18270339,18206974,18178629,18030674,17851451,17653898,17581638,17557300,17493242,17417778,17312306,17148452,17044039,17029773,17016615,16964243,16885385,16774946,16740762,16507833,16472587,16344560,16166421,16116158,16042583,15887099,15342556,15256438,15226443,15077197,14871975,14756672,20178594,20029092,12810663,19015241,19170196,19479271,19515846,19536092,19625176,19672700,19692168,19703417,19707776,19730683,19863800,19898223,20056646,20129926,20186689,20379614,20403997,20453000,20496165,20533529,14676842,12853948,12799449,12684669,12601175,12477932,11948175,11897781,11429708,11427529,11292842,10954713,10783165,10763829,10480359,10072354,10037723,9419979,9000555,8889548,8666379,8586419,8072530,7661930,12584560,10748159,20632815 2315025,2306716,2315028,2293505,2315026,2306714,1599141,1599142,1599137 5395 NR_003085,NG_008466,AC005995,CH878731,U13696,AB103082,AB103083,AB103085,AB103086,AI433648,AK294661,AK312390,BC008400,BC031832,BC093921,BC143397,BM669686,BP251389,BQ050630,BX537558,NM_000535,CR981250,DA774159,DB527312,U14658 NP_000526,AAS00390,EAW55055,AAA63923,BAD89425,BAD89426,BAD89428,BAD89429,BAG57831,BAG35307,AAH93921,CAD97782,AAA50390,P54278,Q5FBW8,Q7Z3Q2 Hs.632637 HNPCC4|PMS2CL|PMSL2 DNA mismatch repair protein PMS2|H_DJ0042M02.9|PMS1 protein homolog 2|mismatch repair endonuclease PMS2 protein-coding 2291758 PMS2CL PMS2 C-terminal like pseudogene 17253626,15256438,12477932 441194 NR_002217,AC073343,AB116525,BC041364,CR749616 BAC81643,CAH18410,Q68D20 Hs.726157 PMS2P13 pseudo 1352973 PMS2L1 postmeiotic segregation increased 2-like 1 pseudogene 1580863 10101297,16344560,15077197,12690205,12477932,8586419,7980603 5379 NR_003613,AC005071,CH236956,CH471091,U38964,AB017004,BC038996,BC044214,BC067809,BC110395,D38435,D38499,DA706474 EAL23839,EAL23840,EAL23842,EAW76559,AAA97458,BAA74753,BAA07470,BAA07511,A4D2B8,Q13400,Q16590,EAL23838 Hs.703626,Hs.634244,Hs.661055 PMS2L1|PMS2L13|PMS2L6|PMS2L7|PMS2L8|PMS3|PMS8|PMSR1|PMSR2 pseudo 1342554 PMS2L10 postmeiotic segregation increased 2-like 10 8586419,8586419,9847074 5388,100288713 AC004878,NG_023454 PMS2L10|PMSR4 pseudo 1354080 PMS2L11 postmeiotic segregation increased 2-like 11 pseudogene 1580863 15342556,12477932,9344666,8586419,7980603,20935630 441263 BP230837,U38980,NR_023383,AC007000,AC114737,AK297517,BC015750 AAA97460,BAG59924 Hs.675888 PMS2L11|PMSR6 postmeiotic segregation increased 2-like 11 pseudo 1351398 PMS2L12 postmeiotic segregation increased 2-like 12 pseudogene 12690205,9799793 392713 NG_009900,AC005088,AC091390,AF030453 P0C857 PMS2L12|PMSL12 pseudo 3277649 PMS2L14 postmeiotic segregation increased 2-like 14 10101297,9847074 729453 AB017005,AC004878,NG_006449 BAA74754 PMS2L14 pseudo 1603323 PMS2L2 postmeiotic segregation increased 2-like 2 pseudogene 10101297,12477932,8586419,7980603 5380 NR_003614,AC004980,AC006014,AC006972,AC007000,AC007003,AC114737,AB017006,AB017007,BC010535 BAA74755,BAA74756,O95744,O95745,O95746 Hs.292996,Hs.661055,Hs.720746 PMS4 pseudo 1606835 PMS2L3 postmeiotic segregation increased 2-like 3 12477932,10737800,8586419,7980603,20819778 5387 CR620519,CR621744,D38437,D38498,NR_028059,AC018720,CH471220,U38979,BC007683,BC014421,BC046153,BC087844,BC101598,BC143635,BE938866 BAA07472,BAA07510,Q13401,Q16603,EAW71765,EAW71766,AAA97459,AAI01599 Hs.406395,Hs.659871,Hs.661055 MGC126647|PMS2L3|PMS2L9|PMS5|PMSR3 pseudo 1349996 PMS2L4 postmeiotic segregation increased 2-like 4 pseudogene 1580863 16913423,12477932,8586419,7980603 5382 NR_022007,AC006480,BC029368,BC029419,BC038841,D38438,D38500 BAA07473,BAA07512,Q16544 Hs.712714 PMS2L4|PMS6 pseudo 1354240 PMS2L5 postmeiotic segregation increased 2-like 5 1580863 12477932,10737800,8586419,7980603 5383 NR_027775,NR_027776,NR_027777,AC004166,AA621085,AK309660,BC027480,BC052588,BF848566,BF984173,BX116204,D38436,D38439,D38501,D38502,DW407867 AAH52588,BAA07471,BAA07474,BAA07513,BAA07514,A8MQ11,Q16673,Q15157,Q7Z7L0,AAI52851 Hs.639059,Hs.647025 MGC34222|PMS2L5|PMS7 pseudo 1353301 PMS2L7 postmeiotic segregation increased 2-like 7 8586419 5385 1345139 PMS2L8 postmeiotic segregation increased 2-like 8 1580863 8586419 5386 U38964 AAA97458,Q13400 PMSR2 protein-coding 1345112 PMS2LP1 postmeiotic segregation increased 2-like pseudogene 1 8586419 5391 3277560 PMS2LP2 postmeiotic segregation increased 2-like pseudogene 2 8586419,9344666,9847074 100101440 AC005488,NG_006451 PMSR7 pseudo 1354429 PMS2LP2 postmeiotic segregation increased 2-like pseudogene 2 8586419 5392 1321931 PMVK phosphomevalonate kinase PMVK (EC 2.7.4.2) is a peroxisomal enzyme that catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate as the fifth reaction of the cholesterol biosynthetic pathway.[supplied by OMIM] 1580863,2316857 10191291,17353931,18798562,18660489,18618710,17902708,15489334,14729858,12477932,8663599,8188698,19913121,20628086,14680974 2316857 10654 NM_006556,AF026069,AL451085,CH471121,AK130234,AK312803,BC006089,BC007694,BF221848,BQ061044,BT019976,CR541998,CR599616,CR603108,CR604920,CR622269,L77213 NP_006547,AAC60791,CAI13237,EAW53177,EAW53178,Q15126,Q6FGV9,BAG35661,AAH06089,AAH07694,AAV38779,CAG46795,AAC37593 Hs.30954 HUMPMKI|PMK|PMKA|PMKASE hPMK|phosphomevalonate kinase protein-coding 1605290 PNCK pregnancy up-regulated non-ubiquitously expressed CaM kinase PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM] 18562482,15489334,12477932,11034105,10673339,8889548,18029348 139728 NM_001135740,CH471172,AK296067,AK296165,AK296203,AK303746,AK309148,AK309159,AK316402,BC033746,BC064422,CF890832,CR611192,DC383841,NM_001039582 NP_001034671,NP_001129212,EAW72834,EAW72835,EAW72836,EAW72837,EAW72838,EAW72839,EAW72840,EAW72841,EAW72842,EAW72843,EAW72844,EAW72845,BAG58826,BAG58903,BAG58930,BAG64718,BAH14773,AAH64422,Q6P2M8,ABM82972,ABM86166 Hs.436667 BSTK3|CaMK1b|FLJ50403|FLJ50549|FLJ56451|FLJ59811|MGC45419 OTTHUMP00000025963|OTTHUMP00000025964|OTTHUMP00000025967|OTTHUMP00000025968|OTTHUMP00000025971|caM kinase I beta|caM kinase IB|caM-KI beta|caMKI-beta|calcium/calmodulin-dependent protein kinase type 1B|pregnancy up-regulated non-ubiquitously-expressed CaM kinase|pregnancy upregulated non-ubiquitously expressed CaM kinase protein-coding 1346850 PNKD paroxysmal nonkinesigenic dyskinesia 18948699,18948272,16972263,16632198,16381901,16189514,15824259,15496728,15496428,15489336,15188498,15188056,12975309,12477932,11256614,11076863,10574461,9490305,8659518,8659517,8288249,20877624,20620873,18029348,19124534,20237496 25953 BC007543,BC021118,BC036457,BI764334,CR600095,AL137675,NM_001077399,NM_022572,AC021016,AF390031,CH471063,AB033010,AF318057,AF417001,AF418285,AK289867,AK309308,AL080092,AY039043,AY358680,AY358753,BC002937,NM_015488,BQ028777,BU553179,NG_017060 AAH02937,AAH21118,AAH36457,Q6UWR5,Q8N490,Q96P23,CAB70870,CAL37953,CAL38046,ACE87185,ACE86504,NP_056303,NP_001070867,NP_072094,AAM73649,EAW70602,EAW70603,EAW70604,EAW70605,EAW70606,BAA86498,AAL25716,AAL08573,AAL08580,BAF82556,CAB45707,AAK83449,AAQ89043,AAQ89113 Hs.98475 BRP17|DKFZp564N1362|DYT8|FKSG19|FPD1|KIAA1184|KIPP1184|MGC31943|MR-1|MR1|PDC|PKND1|TAHCCP2 brain protein 17|myofibrillogenesis regulator 1|probable hydrolase PNKD|trans-activated by hepatitis C virus core protein 2 protein-coding 1344743 PNKP polynucleotide kinase 3'-phosphatase 1332584,1580863 20574454,10446192,10446193,17353931,18029348,19155274,18414202,17650498,17638872,17081983,16364363,16189514,15635413,15489334,15385968,15231748,15057824,14556639,12477932,12032095,11163244,15260972,15066279,20118933,20226869,20522537,20852255 1332584 11284 NG_027717,CR615833,CR620645,CR621711,CR623076,CR624604,AA640353,BU541073,CR612354,AC018766,AC118341,AF354258,AY133033,CH471177,AF120499,AF125807,AF126486,BC002519,BC009339,BC013034,BC033822,CR590331,CR594341,CR598028,CR599191,CR600664,CR605495,NM_007254 Q96T60,Q9BUL2,ABM81732,ABM84887,NP_009185,AAF44716,AAK57340,AAM82170,EAW52565,EAW52566,EAW52567,AAD47379,AAD50639,AAD51135,AAH02519,AAH33822 Hs.78016 MCSZ|PNK DNA 5'-kinase/3'-phosphatase|Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP)|bifunctional polynucleotide phosphatase/kinase|polynucleotide kinase 3-prime-phosphatase|polynucleotide kinase-3'-phosphatase protein-coding 1318591 PNLDC1 poly(A)-specific ribonuclease (PARN)-like domain containing 1 1580863 14702039,12477932,19724895,19851296,20198315 154197 NM_173516,AL139045,CH471051,AK093139,AK097559,BC112246 NP_775787,CAI19750,EAW47612,EAW47613,BAC04070,BAC05101,AAI12247,Q8NA58,ADR83213 Hs.349077 FLJ40240|MGC138451|dJ195P10.2 poly(A)-specific ribonuclease PARN-like domain-containing protein 1 protein-coding 734222 PNLIP pancreatic lipase This gene is a member of the lipase gene family. It encodes a carboxyl esterase that hydrolyzes insoluble, emulsified triglycerides, and is essential for the efficient digestion of dietary fats. This gene is expressed specifically in the pancreas. [provided by RefSeq] 1358859,1300048,1580863 20150178,1783385,19346257,19113953,18353248,17269661,16431912,16179352,15489334,15316225,14580194,12667003,12477932,12369922,11393534,11278590,9631512,9240923,8479519,8406023,8029213,7601150,2479644,2106079,1522902,1379598,16385451,20136147,10769148,15583024,20936779 1358859 5406 NM_000936,AH003527,AL731653,CH471066,L24529,AK313941,BC007025,BC014309,J05125,M93285,A24059,NG_023311 NP_000927,CAH72667,EAW49451,AAA99053,BAG36659,AAH14309,AAA36740,AAA60129,P16233,CAA01714 Hs.501135 PL|PTL pancreatic triacylglycerol lipase|triacylglycerol acylhydrolase protein-coding 732485 PNLIPRP1 pancreatic lipase-related protein 1 1580863,2302990,1300048 19824014,1379598,15489334,12477932,16385451 2302990 5407 NM_006229,AC016825,CH471066,AK130236,AK307063,BC005233,BC025784,CR749299,CR749524,CR749596,M93283 NP_006220,EAW49449,EAW49450,AAH05233,AAH25784,CAH18154,CAH18337,CAH18394,AAA59532,P54315,Q68D36 Hs.73923 PLRP1 PL-RP1|pancreatic lipase related protein 1|pancreatic lipase-related protein 1 protein-coding 733600 PNLIPRP2 pancreatic lipase-related protein 2 1580863,1300048 1379598,18702514,17401110,16887271,15489334,15342556,15287741,12477932,19548271,16385451 5408 NM_005396,AC016825,CH471066,AK291492,AK307745,AK308508,AK308511,AK308521,BC005989,BP325072,BQ786898,BU078199,CR456949,M93284 NP_005387,EAW49447,EAW49448,BAF84181,AAH05989,CAG33230,AAA59533,P54317,ABM84052,ABM87402 Hs.423598 PLRP2 OTTHUMP00000218565|PL-RP2|galactolipase|pancreatic lipase-related protein 2 protein-coding 1353570 PNLIPRP3 pancreatic lipase-related protein 3 12477932,19640199 119548 NM_001011709,AC011328,CH471066,AL833418,BC015840,BC065752,BC117224 NP_001011709,EAW49452,AAI17225,Q17RR3,ADR83014 Hs.276724 PL-RP3|pancreatic lipase-related protein 3 protein-coding 737176 PNMA1 paraneoplastic antigen MA1 724595 15174051,16713569,16730941,10050892,18029348,16214224,15489334,14676191,12477932,16169070,17207965 724595 9240 AF320308,AK290980,AL834327,BC007712,BC039577,BG700354,BG719761,CR457112,NM_006029,AC006146,CH471061,AF037364 AAN05100,BAF83669,CAD38995,AAH39577,CAG33393,Q6IAP2,Q8ND90,NP_006020,EAW81126,AAD13810,ADQ32495 Hs.194709 MA1 37 kDa neuronal protein|neuron- and testis-specific protein 1|paraneoplastic antigen Ma1|paraneoplastic neuronal antigen MA1 protein-coding 1316357 PNMA2 paraneoplastic antigen MA2 17353931,16344560,15489334,14702039,12477932,11558790,10362822,10050892,10048485,8889549,17207965,17474147,19596235 10687 AC015743,CH471080,AA025092,AB020690,AF037365,AF083114,AF083115,AK055325,BC036489,BC047515,BC062301,CR609060,DA779744,NM_007257 NP_009188,EAW63575,BAA74906,AAD02098,AAF05625,AAF05626,BAG51501,AAH36489,AAH47515,AAH62301,Q5U5Z3,Q9UL42,ADQ32154 Hs.591838 KIAA0883|MA2|MM2|RGAG2 40 kDa neuronal protein|onconeuronal antigen MA2|paraneoplastic antigen Ma2|paraneoplastic neuronal antigen MM2|retrotransposon gag domain containing 2 protein-coding 1349093 PNMA3 paraneoplastic antigen MA3 This gene is a member of the paraneoplastic antigen MA (PNMA) gene family, whose protein products share homology with retroviral Gag proteins. They are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. [provided by RefSeq] 1580863 16407312,16344560,16214224,15489334,12477932,11558790 29944 BC105096,BC105098,DA237274,DR001205,NM_013364,AC152006,CH471172,AF083116,AI689415,AK312299,AL136878,BC030761,NG_013256,U82670 AAI05097,AAI05099,Q9UL41,NP_037496,EAW72888,EAW72889,EAW72890,AAF05627,BAG35226,CAB66812 Hs.449627 MA3|MA5|MGC132756|MGC132758 OTTHUMP00000196648|paraneoplastic antigen Ma3|paraneoplastic cancer-testis-brain antigen protein-coding 1347764 PNMA5 paraneoplastic antigen like 5 16214224,15342556,11572484,12477932 114824 NM_001103150,NM_052926,NM_001103151,CH471172,AA732768,AB067521,AK295446,AK316104,AY121806,BC101111,BC101112,BC101113,BP213790,DC329825,CR617293,DC401753,NG_021341,NM_001184924 NP_001096620,NP_443158,NP_001096621,EAW72892,BAB67827,BAG58384,BAH14475,AAM82754,AAI01112,AAI01113,AAI01114,Q96PV4,NP_001171853 Hs.573567 KIAA1934 OTTHUMP00000025901|paraneoplastic antigen family 5|paraneoplastic antigen-like protein 5|tumor antigen BJ-HCC-25 protein-coding 1346943 PNMA6A paraneoplastic antigen like 6A 737633 16407312,16381901,16344560,16214224,15489336,14702039,12477932,11256614,11076863,16169070 737633 84968 NM_032882,AC151958,CH471172,BX423798,BX423799,DA091739,NG_016372 NP_116271,EAW72886,EAW72887 Hs.721963 MA6|MGC15827|PNMA6 paraneoplastic antigen like 6A protein-coding 1625846 PNMA6B paraneoplastic antigen like 6B 11256614,15772651 728513 XM_001721351,AC151958 XP_001721403,P0C5W0 paraneoplastic antigen like 6B protein-coding 1605375 PNMAL1 PNMA-like 1 20098747,16381901,16344560,15489336,14702039,12477932,12107411,11076863,11230166 55228 NM_018215,NM_001103149,AC011484,CH471126,AK001643,AK096326,AK290218,AL834344,BC026026,BC032508,BC051688,BG708870,BQ637225,BU844519,BX649091,CR607730,CR614621,DA219062,DA325514 NP_060685,NP_001096619,EAW57421,BAA91804,BAF82907,CAD39010,AAH26026,AAH32508,AAH51688,Q86V59,CAL37492,CAL37641,CAL37938,CAL38109,CAL38249,CAL38458,ACE87555,ACE86867 Hs.8395 FLJ10781 PNMA-like protein 1 protein-coding 2290513 PNMAL2 PNMA-like 2 16344560,12477932,10574461 57469 BC121810,BC122520,BF970252,BX390603,BX488737,CR602896,DA015488,AK124720,NM_020709,AC011484,AB033009 BAC85931,AAI21811,AAI22521,Q9ULN7,AAI66688,NP_065760,BAA86497 Hs.7193 FLJ42730|KIAA1183 PNMA-like protein 2 protein-coding 732850 PNMT phenylethanolamine N-methyltransferase The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. [provided by RefSeq] 1358561,1580863,1359087,4139902,4139904 19086053,18937842,18715275,18702937,18349382,17645789,17544870,17117180,16894395,16645894,16363801,15968085,15893506,15848714,15489334,15010812,14553966,12634439,12477932,12438093,11958827,11900856,11807261,11378842,11140838,9645429,9578504,3945626,3372503,1303174,2835776,19343046,19913121,20628086,19570037,19733262,19952402,20090367,20468064,20204374,17207965 1358561,1359087,4139902,4139904 5409 NM_002686,AC087491,CH471152,CS101344,J03280,X52730,BC037246,CR541815,J03727 NP_002677,EAW60588,CAJ00715,AAA60131,CAA36944,AAH37246,CAG46614,AAA60130,P11086,Q6FHD9,ACE87464,ACE86778,ADQ32631 Hs.1892 MGC34570|PENT|PNMTase noradrenaline N-methyltransferase|phenylethanolamine N-methylase|phenylethanolamine N-methyltransferase protein-coding 1349403 PNMTP1 phenylethanolamine N-methyltransferase pseudogene 1 2279621 5410 1313105 PNN pinin, desmosome associated protein 19913121,20628086,14578391,14517304,12893261,12477932,12077342,12051732,11991638,10931946,10645008,10486276,10095061,9447706,9373149,8125298,17353931,8922384,10809736,18029348,18086895,17081983,16964243,16565220,16430868,15735603,15542832,15489334,15358154,15324660,15302935,14729963,16169070,17643375,16341674 5411 HC250973,HC311162,NM_002687,AF195139,AL132639,CH471078,AK223612,AK292579,AK300164,AK303136,AK304622,BC062602,BG057344,BM850066,BQ938918,CD687183,CR603037,CR615582,CR622090,U59479,U77718,Y09703 CBJ05784,CBJ21236,NP_002678,AAG33941,EAW65820,BAD97332,BAF85268,BAG61946,BAG64240,BAG65404,AAH62602,AAB03391,AAB48304,CAA70874,Q15789,Q9H307 Hs.409965 DRS|SDK3|memA|pinin 140 kDa nuclear and cell adhesion-related phosphoprotein|DRSP|SR-like protein|desmosome-associated protein|domain-rich serine protein|melanoma metastasis clone A protein|neutrophil protein|nuclear protein SDK3|pinin protein-coding 1604334 PNO1 partner of NOB1 homolog (S. cerevisiae) 15497447,16169070,15815621,12477932,10931946,9373149,8125298,15489334 56902 NM_020143,AC017083,CH471053,AF164799,AF349314,AK223118,AK225641,AK291715,AK313204,BC008304,BC018152,CR591407,CR597643 NP_064528,AAY14714,EAW99879,AAF80763,AAK29434,BAD96838,BAF84404,BAG36020,AAH08304,AAH18152,Q9NRX1 Hs.262858 KHRBP1|RRP20 KH-type RNA-binding protein 1|RNA binding protein|RNA-binding protein PNO1 protein-coding 733566 PNOC prepronociceptin 1580863 10101606,10419552,9521323,19058789,18292431,17910740,16344560,16043263,15489334,12950177,12812047,12477932,11501941,11436130,11331401,11214319,11097863,10692489,9168905,8710930,8710928,18240029,19501074,19560501,19573600,19874574,20379614,20100531,18577758 5368 NM_006228,AC021678,AY011845,CH471080,X97367,AK289633,AY335948,BC034758,BT019334,CR541940,CR541965,DA403369,U48263,X97370 NP_006219,AAG38294,EAW63526,EAW63527,CAA66039,BAF82322,AAP94601,AAH34758,AAV38141,CAG46738,CAG46763,AAC50651,CAA66040,Q13519,Q6FH16,Q9BYY3,ABM82222,ABM85406 Hs.88218 PPNOC nociceptin|nocistatin|propronociceptin protein-coding 1315443 PNPLA1 patatin-like phospholipase domain containing 1 Human patatin-like phospholipases, such as PNPLA1, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM] 19390624,18414634,16799181,14702039,12477932,19029121 285848 NM_173676,NM_001145716,NM_001145717,AL512301,CH471081,Z84484,AK096074,AM182887,BC103905,BC103906,BC103907,FJ457781 NP_775947,NP_001139188,NP_001139189,EAX03883,CAI21612,CAI21613,BAC04697,CAJ58679,AAI03906,AAI03907,AAI03908,ACJ70710,Q8N8W4 Hs.407002 FLJ38755|MGC119319|MGC119320|MGC119321|dJ50J22.1 OTTHUMP00000016289|patatin-like phospholipase domain-containing protein 1 protein-coding 1603138 PNPLA10P patatin-like phospholipase domain containing 10 pseudogene 16799181 643773 Z82209,NG_028013 pseudo 1354502 PNPLA2 patatin-like phospholipase domain containing 2 737633 15337759,15231748,12477932,9110174,8619474,16169070,20832801,19390624,19208393,19106247,18952573,18952067,18445677,18445597,18224330,18191271,18072017,17657808,17631826,17609260,17356053,17327373,17187067,17032652,16799181,16752181,16679289,16644682,16239926,15550674,19029121,7686673,15364929,19010445,19061969,19401457,19433586,19692632,19695247,20167152,20370797 737633 57104 NM_020376,AP006621,CH471158,AF055000,AJ278475,AJ278476,AK308435,AL833707,AY203925,AY894804,BC011958,BC017280,NG_023394,XM_003120298 NP_065109,EAX02395,EAX02396,AAC09354,CAC01131,CAC01132,AAP34448,AAW81962,AAH11958,AAH17280,Q96AD5,XP_003120346 Hs.654697 1110001C14Rik|ATGL|DESNUTRIN|DKFZp667M109|FP17548|PEDF-R|TTS-2.2|TTS2 IPLA2-zeta|TTS2.2|adipose triglyceride lipase|calcium-independent phospholipase A2|desnutrin|patatin-like phospholipase domain-containing protein 2|patatin-like phospholipase domain-containing protein 2-like|pigment epithelium-derived factor|transport-secretion protein 2|transport-secretion protein 2.2|triglyceride hydrolase protein-coding 1601958 PNPLA3 patatin-like phospholipase domain containing 3 The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq] 19029121,15364929,19390624,19239840,19224197,18940312,18820647,18728122,16799181,16505250,16150821,15489334,15461802,15181042,12529303,12477932,10591208,19524579,19542081,19596471,19619606,19651814,19729411,19738004,19844213,19946271,20034933,20373368,20546964,20826584,20852027,20962157,21036152,20585554,20648472,20648474,20684021,20803499 80339 NM_025225,NG_008631,AL023654,AL035398,CH471138,AK025665,AK123806,AK315166,AL138578,BC014449,BC065195,CR456476,CR623185 NP_079501,CAI21791,CAI22840,EAW73323,EAW73324,EAW73325,BAG53962,BAG37610,CAB71238,AAH14449,AAH65195,CAG30362,Q9NST1 Hs.654800 ADPN|C22orf20|iPLA(2)epsilon acylglycerol O-acyltransferase|adiponutrin|calcium-independent phospholipase A2-epsilon|iPLA2-epsilon|patatin-like phospholipase domain-containing protein 3 protein-coding 1346226 PNPLA4 patatin-like phospholipase domain containing 4 737633,1580863 19390624,19029121,19181555,18029348,16799181,16741517,16341674,15955102,15489334,15364929,12477932,7806223,17603008 737633 8228 NM_001142389,NM_004650,AC005296,CH471074,U08893,AK289888,AK304586,BC020746,BM850121,CR623713,DB468796,U03886,DC421932,NG_016624,NM_001172672 NP_001135861,NP_004641,EAW98751,EAW98752,EAW98753,AAA17838,BAF82577,BAG65374,AAH20746,AAA16491,P41247,ABM82325,ABM85504,NP_001166143 Hs.264 DXS1283E|GS2|IPLA2-ETA IPLA2 eta|OTTHUMP00000022870|calcium independent phospholipases A2 eta|patatin-like phospholipase domain-containing protein 4 protein-coding 2946883 PNPLA4P1 patatin-like phospholipase domain containing 4 pseudogene 1 9847074 100379236 AC018677,NG_016596 pseudo 1343707 PNPLA5 patatin-like phospholipase domain containing 5 Human patatin-like phospholipases, such as PNPLA5, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM] 19390624,17603008,16799181,14702039,12477932,19029121 150379 NM_138814,CH471138,Z97055,AK056648,AK127172,BC031820,BC104839,BC104843,BC143696,NM_001177675 NP_620169,EAW73321,EAW73322,CAB09789,BAG51773,BAC86866,AAH31820,AAI04840,AAI04844,Q7Z6Z6,NP_001171146,CAQ09929,CAQ09930 Hs.248086 4833426H19Rik|GS2L|dJ388M5|dJ388M5.4 GS2-like protein|patatin-like phospholipase domain-containing protein 5 protein-coding 1605701 PNPLA6 patatin-like phospholipase domain containing 6 20382209,19343046,19059269,18313024,17385009,16987144,16799181,16344560,16122834,16010971,15302935,15044461,12640454,12514188,12477932,11927584,10759065,9576844,6836585,4026382,3958422,21171093,19029121,20346913,20380879,20603202 10908 BQ001677,DA096881,DA104284,DB068563,NG_013374,NM_001166111,NM_001166112,NM_001166113,NM_001166114,NM_006702,AC008878,AC009003,CH471139,AJ004832,AK293807,AK294021,AK302462,AL050362,BC038229,BC050553,BC051768,BQ430066,CR590291,CR603716,DA247219 NP_001159583,NP_001159584,NP_001159585,NP_001159586,NP_006693,EAW69029,EAW69030,CAA06164,BAG57214,BAG57380,BAH13718,CAB43674,AAH38229,AAH50553,AAH51768,Q8IY17 Hs.631863 NTE|NTEMND|SPG39|sws neuropathy target esterase|patatin-like phospholipase domain-containing protein 6 protein-coding 1353397 PNPLA7 patatin-like phospholipase domain containing 7 Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM] 19029121,18029348,16799181,16344560,14702039,12640454,12477932 375775 NM_152286,NM_001098537,AL365502,CH471090,AK024443,AK055880,AK122590,AK125060,AK126267,AK127249,AK127340,AK297623,AK310060,AL832856,AL832944,BC025663,BF507598,DA121537,DA333130 NP_689499,NP_001092007,CAI14579,CAI14581,CAI14582,EAW88396,EAW88397,EAW88398,BAB15733,BAB71033,BAC56931,BAC86036,BAC86509,BAG54465,BAG54487,BAG59999,CAH56483,CAH56322,AAH25663,Q5T362,Q6ZV29,AAI67848 Hs.294147 C9orf111|FLJ31318|FLJ43070|FLJ44279|NTE-R1|NTEL1|RP11-48C7.2 OTTHUMP00000022702|OTTHUMP00000022703|patatin-like phospholipase domain-containing protein 7 protein-coding 1603644 PNPLA8 patatin-like phospholipase domain containing 8 Phospholipase A2 catalyzes cleavage of fatty acids from phospholipids, thereby regulating membrane physical properties and the release of lipid second messengers and growth factors. Phospholipase A2 activity also modulates cellular growth programs, inflammation, and ion channel function (Mancuso et al., 2000 [PubMed 10744668]).[supplied by OMIM] 10744668,18680539,16799181,16381901,15695510,15489336,14702039,12690205,12477932,11256614,19029121,11230166,11076863,10833412,19892409,20379614 50640 NM_015723,AC005058,CH236947,CH471070,AB041261,AF217519,AF263613,AF263947,AK002115,AK024335,AK291755,AL834147,BC005203,BC032999,BX647865,CR620052 NP_056538,AAD08847,EAL24384,EAL24385,EAW83432,EAW83433,EAW83434,EAW83435,BAA94997,AAF67630,AAF75269,AAF81246,BAA92090,BAB14890,BAF84444,CAD38859,AAH32999,Q9NP80,CAL37541,ABM81874,ABM85037 Hs.617340 IPLA2(GAMMA)|IPLA2-2|IPLA2G OTTHUMP00000206858|OTTHUMP00000206859|OTTHUMP00000206860|OTTHUMP00000206861|OTTHUMP00000206862|PNPLA-gamma|calcium-independent phospholipase A2-gamma|iPLA2 gamma|iPLA2-gamma|intracellular membrane-associated calcium-independent phospholipase A2 gamma|membrane-associated calcium-independent phospholipase A2 gamma|patatin-like phospholipase domain-containing protein 8 protein-coding 1352951 PNPO pyridoxamine 5'-phosphate oxidase The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq] 634494,1580863 18485777,17851041,16344560,15772097,15489334,15182361,14702039,12824491,12477932,9601034,9373149,8889548,8125298,19759001,10024608 634494 55163 NM_018129,NG_008744,AC018521,CH471109,AF468030,AK001397,AK223242,AK303536,AK303665,AK303792,BC006525,CB853441,DA186382,DB228906 NP_060599,EAW94770,EAW94771,AAM76918,BAA91668,BAD96962,BAG64562,BAG64664,BAG64749,AAH06525,Q53FP0,Q9NVS9 Hs.631742 FLJ10535|PDXPO pyridoxal 5'-phosphate synthase|pyridoxamine-phosphate oxidase|pyridoxine 5'-phosphate oxidase|pyridoxine-5'-phosphate oxidase protein-coding 1317494 PNPT1 polyribonucleotide nucleotidyltransferase 1 PNPT1 is a subunit of the exosome complex, which is involved in 3-prime-to-5-prime exoribonuclease activity for RNA processing and degradation (Raijmakers et al., 2002 [PubMed 12419256]).[supplied by OMIM] 1580863 20546612,20547861,18029348,20877624,18391951,18083837,18083836,17983748,17804700,16966381,16966379,16505900,16410805,16344560,16055741,15815621,15489334,14702039,14563561,12798676,12721301,12477932,12473748,12419256,19509288,19580345,19604093,20691904 87178 NM_033109,AC015982,CH471053,AJ458465,AK307589,AY027528,AY290863,BC000862,BC005986,BC009057,BC021170,BC053660,CR625599,CR749867,DA998523,HH765820,FB334481 NP_149100,AAY24271,EAX00086,EAX00087,CAD30289,AAK13047,AAP44472,AAH00862,AAH05986,AAH53660,CAH18709,Q8TCS8,CBX83686,CAR80228 Hs.388733 DKFZp762K1914|OLD35|PNPASE|old-35 3'-5' RNA exonuclease OLD35|OTTHUMP00000201237|OTTHUMP00000201815|PNPase 1|PNPase old-35|polynucleotide phosphorylase 1|polynucleotide phosphorylase-like protein|polyribonucleotide nucleotidyltransferase 1, mitochondrial protein-coding 1354036 PNRC1 proline-rich nuclear receptor coactivator 1 1580863 15604093,7578250,19334528,18703122,18281297,15489334,15122321,14574404,12477932,11574675,10894149,10428808,17612402 10957 AL353135,CH471051,AF279899,AK130046,AK312665,AY303779,BC018112,BC044919,CR590801,CR593282,CR595339,CR602604,CR603217,CR605107,CR607268,CR608318,CR617909,CR618392,CR624105,DB494998,U03105,NM_006813 Q7Z5N0,Q9BXV2,NP_006804,CAI16243,CAI16244,EAW48563,EAW48564,AAK07554,BAG35547,AAP76184,AAH18112,AAH44919,AAA85576,Q12796,Q49A59 Hs.75969 B4-2|PNAS-145|PROL2|PRR2|RP11-63L7.5 proline rich 2 protein|proline-rich nuclear receptor coactivator 1|proline-rich polypeptide 2|proline-rich protein 2|proline-rich protein with nuclear targeting signal|protein B4-2 protein-coding 1351134 PNRC2 proline-rich nuclear receptor coactivator 2 1580863 19150429,16710414,16344560,15489334,14702039,14651967,12477932,11574675,11042152,10894149,15604093,16169070 55629 NM_017761,AL590609,CH471134,AF151042,AF374386,AK000319,AK024774,AK311305,BC001959,BC068475,BC078177,BC085018,DA043474 NP_060231,CAI14802,EAW95101,EAW95102,AAF36128,AAK54613,BAA91082,AAH01959,AAH78177,AAH85018,Q9NPJ4 Hs.7862,Hs.512636,Hs.644217,Hs.716935 FLJ20312|MGC99541 proline-rich nuclear receptor coactivator 2 protein-coding 1320634 PODN podocan 19913121,20628086,16710414,15489334,15063725,12975309,12796502,12477932 127435 NM_153703,AL445183,CH471059,AK314096,AL122104,AY313607,AY358294,BC024024,BC028292,BC030608,BQ719232,BX391686,AK296649,AK299375,AK300847,AK304599,DC404421,NM_001199080,NM_001199081,NM_001199082 NP_714914,CAH72591,CAH72592,EAX06756,EAX06757,EAX06758,BAG36791,AAP79898,AAQ88661,AAH28292,AAH30608,Q7Z5L7,ABM82697,ABM85881,BAG59247,BAG61365,BAG62498,BAG65385,NP_001186009,NP_001186010,NP_001186011 Hs.586141 MGC24995|PCAN|SLRR5A podocan|podocan proteoglycan protein-coding 1602677 PODNL1 podocan-like 1 12477932 79883 AK296101,AK298489,BC052610,BC057786,NM_024825,NM_001146254,NM_001146255,AC020916,CH471106,AI219486,AK027100,AK290731 BAF83420,BAH12256,BAH12800,AAH57786,Q6PEZ8,NP_079101,NP_001139726,NP_001139727,EAW84381,EAW84382,EAW84383,BAB15657 Hs.448497 FLJ23447|SLRR5B podocan-like protein 1 protein-coding 736843 PODXL podocalyxin-like This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq] 1580863 20599725,20628624,17124010,16684343,16434482,15642748,15342556,15289306,15226400,15146197,14702039,12874460,12690205,12504081,12477932,11997330,11457882,10737800,9625756,9373149,9339384,8125298,17137615,20395446,9188463,19118161,18818395,18456258,18356574,18313397,17719804,17616675,17311105,19605546,18029348 5420 NM_005397,NM_001018111,AC008264,CH236950,CH471070,AK055816,AK223573,BC042466,BC093730,BC112035,BC143318,BG006197,BP355358,BX641124,CN290641,U97519 NP_005388,NP_001018121,EAL24080,EAW83786,EAW83787,BAB71022,BAD97293,AAH93730,AAI12036,AAI43319,AAB61574,O00592,Q96N83 Hs.726449 Gp200|MGC138240|PC|PCLP|PCLP-1 GCTM-2 antigen|podocalyxin|podocalyxin-like protein 1 protein-coding 1347781 PODXL2 podocalyxin-like 2 1580863 12477932,10722749,18606703,17081983,15489334,12975309,12889478 50512 NM_015720,AC023593,CH471052,AF219137,AY359096,BC019330,BC052585,CR596999,CR604786,CR607317,CR618162,CR621544 NP_056535,EAW79337,EAW79338,AAF44629,AAQ89454,AAH19330,AAH52585,Q9NZ53 Hs.591290 PODLX2 endoglycan|podocalyxin-like protein 2 protein-coding 1345780 POF1 premature ovarian failure 1 5421 1351618 POF1B premature ovarian failure, 1B 18029348,16773570,15772651,15489334,15459172,14702039,11299520,9373149,8125298,12477932,17123869,9001815,20734064 79983 NM_024921,AL117325,CH471104,Z82216,AF309774,AI591162,AK025039,AK025080,AK026445,AK225193,AK290360,AK314295,BC017500,NG_016358 NP_079197,CAI42100,CAI42101,EAW98560,EAW98561,EAW98562,CAI43050,CAI43051,AAM93270,BAB15055,BAB15061,BAB15485,BAF83049,BAG36950,AAH17500,Q8WVV4,ABM83153 Hs.267038 FLJ22792|POF|POF2B premature ovarian failure protein 1B|protein POF1B protein-coding 1348314 POFUT1 protein O-fucosyltransferase 1 This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 2302204,1580863 20379614,11698403,9023546,11524432,18347015,15653671,15489334,12697902,12477932,12168954,12036964,11780052,9525914,8724849 2302204 23509 NM_015352,NM_172236,AL121897,CH471077,AF375884,AK291033,AK300810,AK303068,AL832023,BC000582,BC017669,CR617950,D80002 NP_056167,NP_758436,CAC16424,CAH73300,EAW76383,EAW76384,EAW76385,AAL09576,BAF83722,BAG62466,BAG64185,AAH00582,BAA11497,Q9H488 Hs.472409 FUT12|KIAA0180|MGC2482|O-FUT|O-Fuc-T|O-FucT-1 GDP-fucose protein O-fucosyltransferase 1|o-fucosyltransferase protein|peptide-O-fucosyltransferase 1 protein-coding 1316469 POFUT2 protein O-fucosyltransferase 2 Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM] 1580863 20549515,16464858,16464857,15489334,15233996,15146197,12966037,12477932,10830953,10231032,19615732 23275 NM_133635,NR_004858,AL163301,BX322557,CH471079,AB023175,AJ302079,AJ302080,AJ575591,AK290732,AK294966,AK298080,AL110285,AY066015,BC000626,BC011044,BC064623,BI560842,NM_015227,BI669244,CA425603,CN429387,CR621084 NP_056042,NP_598368,CAB90496,EAX09350,EAX09351,EAX09352,EAX09353,EAX09354,BAA76802,CAC24556,CAC24557,CAE01472,BAF83421,BAG58039,BAG60368,CAB53715,AAL47681,AAH11044,AAH64623,Q9Y2G5 Hs.592164 C21orf80|FUT13 GDP-fucose protein O-fucosyltransferase 2|O-FucT-2|OTTHUMP00000107275|peptide-O-fucosyltransferase 2 protein-coding 1319023 POGK pogo transposable element with KRAB domain The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq] 10509013,18029348,19064610,16964243,14702039,12477932,10819331,9110174,19536175,8619474 57645 NM_017542,AL008639,CH471067,AB040946,AF111706,AF131746,AF139898,AK027079,AK056711,AK093951,AK293946,AK299537,BC016390,BC131624 NP_060012,CAI23579,CAI23580,EAW90775,EAW90776,EAW90777,BAA96037,AAM12422,AAD20031,AAD50079,BAG51796,BAG57323,BAG61484,AAI31625,O95880,Q5TIJ1,Q5TIJ2,Q9P215 Hs.432752 BASS2|KIAA1513|KIAA15131|KRBOX2|LST003 KRAB box domain containing 2|OTTHUMP00000032215|OTTHUMP00000032216|pogo transposable element with KRAB domain protein-coding 1320615 POGZ pogo transposable element with ZNF domain The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 20936779,19244240,20379614,20562864,10976766,18029348,17081983,16710414,16381901,15489336,15489334,15302935,12880961,12477932,11230166,11076863,9455484 23126 NM_015100,NM_145796,AL589764,CH471121,AB007930,AB037911,AB075477,AJ242979,AK000199,AK299791,AK300307,AK302501,AW167360,BC042018,BC057773,BX537561,BX537838,BX649163,CR601169,CR605563,CR619323,NM_207171,NM_001194937,NM_001194938 NP_997054,NP_055915,NP_665739,CAI16807,CAI16808,CAI16809,CAI16810,CAO72143,CAO72144,EAW53436,EAW53437,EAW53438,EAW53439,EAW53440,EAW53441,BAA32306,BAB87117,BAE45744,CAB45136,BAG61670,BAG62060,BAG63781,AAH57773,CAD97850,Q7Z3K3,CAL37797,AAI66671,CAX15042,NP_001181866,NP_001181867 Hs.489873 KIAA0461|MGC71543|SUHW5|ZNF280E|ZNF635|ZNF635m OTTHUMP00000014469|OTTHUMP00000203655|pogo transposable element with ZNF domain|putative protein product of Nbla00003|suppressor of hairy wing homolog 5|zinc finger protein 280E|zinc finger protein 635 protein-coding 732365 POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 1580863 2175912,16762037,3359994,893425,4084590,3139084,1311258,2243771,9395244,9518481,10518787,10869558,16438930,3335506,1508673,1730053,11470886,7910375,9815285,18029348,1903085,6693436,9822671,11473323,7045121,19177015,17761813,17699597,17209555,16935576,15615704,14499601,12950174,12665598,12546699,12393188,12220650,12181327,11968016,11917009,11259605,10877824,9563011,9039979,8760400,8226963,8223465,7504813,7085672,3820307,3490907,2410918,2005899,1848671,15146197,19608746,19615732,3917431,8889548 5422 NM_016937,AC002504,AC004655,AC079375,AC135280,AY275833,CH471074,M64481,BU508486,BX648513,CR625340,DW462890,X06745,BM664024,CN364591,NG_016798,HB393262 NP_058633,AAP13534,EAW99028,AAA52318,CAA29920,P09884,CAZ65678 Hs.567319 DKFZp686K1672|POLA|p180 DNA polymerase alpha 1 catalytic subunit|DNA polymerase alpha catalytic subunit|DNA polymerase alpha catalytic subunit p180|DNA polymerase alpha p180 subunit|dna polymerase alpha subunit i|polymerase (DNA directed), alpha 1|polymerase (DNA-directed), alpha (70kD) protein-coding 731623 POLA2 polymerase (DNA directed), alpha 2 (70kD subunit) 1580863 15231747,8223465,6693436,9822671,11473323,19237606,16964243,16169070,15302935,14702039,12546699,12477932,12181327,11433027,1902230,9518481,15489334,19615732,20800603 23649 NM_002689,AP000944,CH471076,AK025315,AK094569,AK297842,AK307831,AK309284,BC001347,BC002990,BC018813,BC018814,CR456737,CR600071,CR605096,L24559 NP_002680,EAW74373,BAG52888,BAG60176,AAH01347,AAH02990,CAG33018,AAA16459,Q14181,ABM82949,ABM86141 Hs.201897 FLJ21662|FLJ37250 DNA polymerase alpha 70 kDa subunit|DNA polymerase alpha subunit B|dna polymerase alpha subunit ii|polymerase (DNA-directed), alpha (70kD) protein-coding 736608 POLB polymerase (DNA directed), beta In eukaryotic cells, DNA polymerase beta (POLB) performs base excision repair (BER) required for DNA maintenance, replication, recombination, and drug resistance. Also see POLA (MIM 312040).[supplied by OMIM] 1580863,2302580,2317132 20465217,20574454,17173071,20805875,20519499,20423048,15489334,15314187,15145936,14627836,14506279,12665521,12517346,12477932,12453427,12370169,12196536,12173936,12067997,12063248,11955015,11923315,11912205,11827474,11805079,11756435,11467963,11242139,9572863,9373149,9294209,9287163,8841120,8841119,8841118,8769567,8125298,7914364,7705833,3284575,3182828,2460824,2423078,2040602,1511447,1408801,8978692,11250913,16600869,15725623,8168825,9207062,10559261,19339270,19336415,19329428,19237606,19167932,19147782,19120024,19104052,18937502,18686630,18676680,18471977,18313385,18161950,18039710,18006695,17855454,17526740,17355977,17321545,17286973,17283177,17230526,17209556,17203305,17176113,17131038,17127106,17065437,16609022,16195237,16188889,16169070,16060670,15963946,15764500,15753095,15731342,15601998,15561706,15548520,18270339,15520167,11163244,15107487,15260972,20459144,19170196,19330779,19536092,19625176,19635489,19692168,19747104,19838217,19842163,20006562,20150366,20226869,20403997,20496165,20522537,20526335 2302580,2317132 5423 NM_002690,AC083973,AC107885,AF491812,CH471080,J04201,S82473,U10526,X68633,AK223537,AK294025,AK314976,BC100288,BC106909,CR536503,CR541802,CR623008,CR624336,D29013,L11607,M13140 AAA60133,P06746,Q53EV2,Q6LBJ9,Q9BQF2,NP_002681,AAL91594,EAW63221,AAA60134,AAB37518,AAB60688,CAA48603,BAD97257,BAH11651,BAG37475,AAI00289,AAI06910,CAG38741,CAG46601,BAA06099,AAB59441 Hs.654484 MGC125976 DNA pol beta|DNA polymerase beta|DNA polymerase beta subunit|dna polymerase beta protein-coding 734076 POLD1 polymerase (DNA directed), delta 1, catalytic subunit 125kDa The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1, POLD2 (MIM 600815), POLD3 (MIM 611415), and POLD4 (MIM 611525) (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 1358139,2306716,1580863,737798 19913121,20574454,20628086,16762037,15670210,3335506,1730053,9111189,3146346,10559261,11473323,19329428,19237606,18701435,18676680,18270339,17203305,16934752,15489334,15113441,14767555,12806015,12477932,12403614,12393188,12220650,12171929,11923315,10852724,9620226,9563011,9545286,9286699,2436659,1722322,1542570,1427831,16169070,17353931,10608806,16510448,17474147,19170196,19557333,19625176,19692168,20070946,20226869,20496165,20522537 2306716,737798 5424 NM_002691,AC008655,AC020909,AY129569,CH471135,AB209560,BC008800,BM193218,CR597968,DQ234348,M80397,M81735 NP_002682,AAM76971,EAW71856,EAW71857,BAD92797,AAH08800,ABB29977,AAA58439,AAA35768,P28340,Q308M6,Q59FA0,ABM86879,ABW03832 Hs.279413 CDC2|POLD CDC2 homolog|DNA polymerase delta catalytic subunit|DNA polymerase subunit delta p125|DNA-directed polymerase delta 1|dna polymerase delta, catalytic subunit protein-coding 1312693 POLD2 polymerase (DNA directed), delta 2, regulatory subunit 50kDa The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1 (MIM 174761), POLD2, POLD3 (MIM 611415), and POLD4 (MIM 611525) (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 2306716,1580863 20574454,15670210,8530069,9111189,10559261,11473323,19237606,18818516,18765914,16934752,16344560,15489334,15231747,12690205,12522211,12477932,12171929,11986310,11593007,11027336,10978529,10852724,10811112,9286699,16000169,16479163,16510448,20226869 2306716 5425 NM_001127218,NM_006230,AC006454,AF239710,AY116646,CH236960,CH471128,AK292347,AK298168,AK312294,BC000459,AU117477,BC030001,CR590132,CR592373,CR595771,CR595850,CR596391,CR597999,CR599106,CR599360,CR603674,CR608121,CR608493,CR610527,CR615173,CR615633,CR617641,CR619876,CR620131,CR620259,CR622996,CR623270,CR623749,U21090 NP_001120690,NP_006221,AAG09763,AAM51148,EAL23767,EAW61118,BAF85036,BAG60440,BAG35221,AAH00459,AAC50216,P49005,ABM82925,ABM86115 Hs.306791 DNA polymerase delta subunit 2|DNA polymerase delta subunit p50|OTTHUMP00000209249|OTTHUMP00000209250 protein-coding 1323795 POLD3 polymerase (DNA-directed), delta 3, accessory subunit The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1 (MIM 174761), POLD2 (MIM 600815), POLD3, and POLD4 (MIM 611525) (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 2306716,1580863 10219083,16510448,7910606,9099749,9111189,10559261,11473323,19237606,18818516,18765914,18157942,17932049,17081983,16935576,16934752,16000169,12477932,12171929,11595739,10852724,7584028,7584026,16763556 2306716 10714 NM_006591,AP001104,AP001324,CH471076,AK297375,AK302677,AK316301,AK316370,BC020587,BC032636,BC041703,BC058840,BC092454,BC108908,BC108909,CR604252,D26018 NP_006582,EAW74942,EAW74943,BAG59818,BAG63909,Q8WUF6,BAH14741,AAH20587,AAH32636,AAH92454,AAI08909,AAI08910,BAA05039,Q05BV7,Q15054,Q32MZ9,Q32N00,Q569I8,BAH14672 Hs.82502 KIAA0039|MGC119642|MGC119643|P66|P68 DNA polymerase delta subunit 3|DNA polymerase delta subunit p66|DNA polymerase delta, subunit 3|polymerase (DNA directed), delta 3 protein-coding 1318336 POLD4 polymerase (DNA-directed), delta 4 The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1 (MIM 174761), POLD2 (MIM 600815), POLD3 (MIM 611415), and POLD4 (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 2306716,1580863 10751307,15670210,9111189,10559261,11473323,18682526,16934752,16510448,12477932,12403614,19931513,20861182 2306716 57804 NM_021173,AP003419,AY928482,CH471076,AB209274,AF179890,BC001334,BC070250,CR595645,CR612376,CR624432,CR623963 NP_066996,AAX09676,EAW74598,EAW74599,EAW74600,BAD92511,AAG08966,AAH01334,AAH70250,Q59G35,Q6NSD7,Q9BVB1,Q9HCU8 Hs.523829 POLDS|p12 DNA polymerase delta smallest subunit p12|DNA polymerase delta subunit 4|DNA polymerase delta subunit p12 protein-coding 1315967 POLDIP2 polymerase (DNA-directed), delta interacting protein 2 This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit. The encoded protein also interacts with proliferating cell nuclear antigen. Some transcripts of this gene overlap in a tail-to-tail orientation with the gene for tumor necrosis factor, alpha-induced protein 1 (TNFAIP1). [provided by RefSeq] 20158880,11042152,11256614,11076863,18063578,19574552,17623671,16428295,16381901,16169070,15811854,15489334,12522211,15489336,12477932,20877624 26073 NM_015584,AC002094,CH471159,AF077203,AF179891,AK293707,AK313232,AL110156,BC000655,BC009265,BC018864,BU932070,CA417611,CR597690,CR597774,CR598987,CR599702,CR607559,CR613502,CR618590,DB455962 NP_056399,EAW51078,AAD26998,AAK92018,BAG57140,BAG36043,CAB53663,AAH00655,AAH09265,Q9UG21,Q9Y2S7,CAL37990 Hs.241543 DKFZp586F1524|PDIP38|POLD4 38 kDa DNA polymerase delta interaction protein|p38|polymerase delta interacting protein 38|polymerase delta-interacting protein 2 protein-coding 1322337 POLDIP3 polymerase (DNA-directed), delta interacting protein 3 This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit. This protein is a specific target of S6 kinase 1 and regulates cell growth. Two transcript variants that encode different protein isoforms have been identified. [provided by RefSeq] 15341740,12529303,12522211,12477932,11258795,10591208,18029348,18423201,16984396,15635413,15489334,15461802,19615732 84271 NM_178136,NM_032311,AY422990,CH471138,Z93241,AB055760,AK024626,AK291623,AK291774,AL080227,AL137743,AL160111,AL160112,AY506562,BC001488,BC007397,BC019643,BC049840,BC056912,BC095411,BE268664,CR456456,CR590566,CR599222,CR612885,CR615966,CR626302,DQ887818,AK297532,AK299751,AK303419 NP_835237,NP_115687,AAQ94604,EAW73264,EAW73265,EAW73266,EAW73267,CAI19835,BAB33368,BAF84312,BAF84463,CAH56378,CAB77058,CAB77059,AAR91612,AAH01488,AAH19643,AAH49840,AAH56912,AAH95411,CAG30342,ABI74675,Q659C6,Q6R954,Q8WUT1,Q96DI9,Q9BY77,CAK54437,CAK54736,BAG59934,BAG61641,BAG64472 Hs.709070 KIAA1649|PDIP46|SKAR 46 kDa DNA polymerase delta interaction protein|RNA-binding protein P46|S6K1 Aly/REF-like target|p46|polymerase delta interacting protein 46|polymerase delta-interacting protein 3 protein-coding 1348983 POLE polymerase (DNA directed), epsilon 1580863 20574454,20677014,16762037,14667819,1730053,9111189,6693436,12045100,19237606,19129559,19074885,17855454,8486689,20826785,14702039,14671302,14500819,12477932,12171929,11741962,11395493,10801849,10673506,10215605,9563011,9121429,8639508,8020968,17353931,10982879,12393188,20226869,20379614,20496165,20503108,20522537 5426 NM_006231,AC131212,AC135586,AF127975,AY273166,AY405840,CH471218,AF128542,AF128544,AK025087,AK093003,AK128248,AL080203,BC007599,BC011376,BC021559,BC087613,BC144561,BX647647,L09561,S60080,U49356,HI574320 NP_006222,AAD44690,AAD44691,AAD44692,AAP12650,EAW54830,EAW54831,EAW54832,EAW54833,EAW54834,AAD45663,BAB15063,BAG52636,CAB45774,AAH07599,AAH21559,AAH87613,AAC19148,AAA15448,AAA90924,Q07864,Q59EA9,Q8WU23,Q96IE1,Q9H736,Q9UNE8,Q9UNE9,Q9UNF3,Q9Y4M6,Q9Y5S4,Q9Y5S5,AAI72436,CBX47649 Hs.524871 DKFZp434F222|FLJ21434|POLE1 DNA polymerase II subunit A|DNA polymerase epsilon catalytic subunit A protein-coding 1323687 POLE2 polymerase (DNA directed), epsilon 2 (p59 subunit) 1580863 9405441,9111189,6693436,12045100,19237606,18676977,16169070,15489334,12477932,11872158,11433027,10801849,9443964,14500819,18029348,11329013,20065316 5427 NM_002692,AF387034,AL139099,AL591767,CH471078,EF506887,AF025840,AF036899,AK293163,AK314963,BC112962,BC126218,BC126220,BX248064,CR615139,CR624379,BG189206,NM_001197330,NM_001197331 NP_002683,AAK72254,EAW65754,ABO43040,AAC51920,AAC39610,BAG56707,AAI12963,AAI26219,AAI26221,CAD62358,P56282,Q86SY9,NP_001184259,NP_001184260,ADR83207 Hs.162777 DPE2 DNA polymerase II subunit 2|DNA polymerase epsilon subunit 2|DNA polymerase epsilon subunit B protein-coding 1344068 POLE3 polymerase (DNA directed), epsilon 3 (p17 subunit) POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM] 1580863 18838386,8619474,14500819,16189514,10801849,17081983,16344560,15489334,15164053,14702039,12477932,11000277,10880450,9110174 54107 NM_017443,NR_027261,AF261689,AL137066,CH471090,CQ783515,CQ783655,DQ072116,AF070640,AF226077,AK074629,AK074762,AK074782,AK092840,AK096050,AY720898,BC003166,BC004170,CR611643,CR618752,DA521953,DA908447 NP_059139,AAF90133,CAH70100,EAW87381,EAW87382,CAF86695,CAF86796,AAY57326,AAF72417,BAC11099,BAC11190,BAC11206,AAU15052,AAH03166,AAH04170,Q9NRF9 Hs.108112 CHARAC17|CHRAC17|YBL1|p17 CHRAC-17|DNA polymerase II subunit 3|DNA polymerase epsilon p17 subunit|DNA polymerase epsilon subunit 3|DNA polymerase epsilon subunit p17|arsenic transactivated protein|arsenic-transactivated protein|asTP|chromatin accessibility complex 17 kDa protein|histone fold protein CHRAC17|huCHRAC17 protein-coding 1317190 POLE4 polymerase (DNA-directed), epsilon 4 (p12 subunit) POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM] 1580863 18838386,10801849,15815621,15489334,12477932,14500819 56655 NM_019896,AC007400,AF261688,CH471053,AI815728,BC031331,BU597500,CA454961,CF529348,AY034104 NP_063949,AAY15030,AAF90132,EAW99597,EAW99598,EAW99599,AAH31331,Q9NR33 Hs.469060 YHHQ1|p12 DNA polymerase II subunit 4|DNA polymerase epsilon p12 subunit|DNA polymerase epsilon subunit 4|DNA polymerase epsilon subunit p12 protein-coding 732179 POLG polymerase (DNA directed), gamma Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580900,737726,1580863 20701905,20843780,15181170,15164064,15177179,14739292,16263719,18063578,8884268,19566497,19425506,19275594,19251978,19243043,19237606,19189930,19054397,19043662,19010300,18828154,18798765,18632724,18585914,18581472,18575922,18546343,18504126,18502641,18487244,18446447,18446310,18321754,18316366,18294203,18270339,18238797,18195151,18193045,18080848,18062861,17923349,17894835,17846414,17725985,17711845,17650503,17650502,17436221,17426723,17420318,17339235,17310215,17300808,17209437,17088268,17005554,17005553,16987890,16970152,16957900,16943369,16929381,16896309,16682683,16639411,16595552,16574152,16553026,16545482,16490220,16487403,16464011,16401742,16392637,16327803,16181814,16130100,16080118,16024923,15981013,15929042,15824347,15694274,15650046,15534189,15489334,15477547,15356024,15351195,15349879,15181541,15122711,14745080,14729924,14694057,14688158,12975295,12872260,12857740,12825077,12707443,12686611,12645575,12565911,12477932,12210792,12144777,12036482,11897778,11756592,11687794,11431686,10827171,9742236,9465903,9119411,9034326,3619920,20601675,20176107,20558295,20734064,20800603,20877624,16488880,19435586,19478085,19501198,19578034,19629138,19730927,19752458,19762913,19807024,19813183,19837034,20138553,20142534,20153822,20181062,20198856,20220442,20399836,20400524,20522537,20818731,18546365,19815814,20438629,20513108,20685647,21038416 1580900,737726 5428 HQ205414,HQ205415,HQ205417,HQ205418,HQ205419,HQ205420,HQ205421,HQ205422,HQ205423,HQ205424,HQ205425,HQ205386,HQ205387,HQ205388,HQ205389,HQ205390,HQ205391,HQ205392,HQ205393,HQ205394,HQ205395,HQ205396,HQ205397,HQ205398,HQ205400,HQ205401,HQ205402,HQ205404,HQ205405,HQ205406,HQ205407,HQ205408,HQ205409,HQ205410,HQ205411,HQ205412,HQ205413,NM_002693,NM_001126131,NG_008218,AC124068,AF497906,AY377897,CH471101,DQ285412,DQ285413,U74651,AK130624,AK291281,AL110092,AW015913,BC042571,BC050559,D84103,U60325,X98093 ADP90854,ADP90855,ADP90856,ADP90857,ADP90858,ADP90859,ADP90860,ADP90861,ADP90862,ADP90863,ADP90864,ADP90865,ADP90866,ADP90868,ADP90869,ADP90870,ADP90872,ADP90873,ADP90874,ADP90875,ADP90876,ADP90877,ADP90878,ADP90879,ADP90880,ADP90881,ADP90882,ADP90883,ADP90885,ADP90886,ADP90887,ADP90888,ADP90889,ADP90890,ADP90891,ADP90892,ADP90893,P54098,Q2V8Y0,Q6JLA7,Q6LCA9,Q2V8X9,NP_002684,NP_001119603,AAM77583,AAR32994,EAX02045,EAX02046,EAX02047,ABB89206,ABB89207,AAB18268,BAF83970,AAH42571,AAH50559,BAA12223,AAC50712,CAA66719 Hs.706868 FLJ27114|MDP1|MIRAS|MTDPS4A|MTDPS4B|PEO|POLG1|POLGA|SANDO|SCAE DNA polymerase subunit gamma-1|PolG, catalytic subunit|PolG-alpha|dna polymerase gamma|mitochondrial DNA polymerase catalytic subunit protein-coding 1312978 POLG2 polymerase (DNA directed), gamma 2, accessory subunit The accuracy of mitochondrial DNA (mtDNA) replication depends on the coordinated action of many nuclear-encoded proteins and on the correct balance of nucleotides within the mitochondrial matrix. mtDNA is replicated by DNA polymerase gamma, which is composed of a 140-kD catalytic subunit (POLG1; MIM 174763) and a 55-kD accessory subunit (POLG2).[supplied by OMIM] 1580863 19913121,20628086,18063578,19478085,19625489,19858216,20877624,10608893,16263719,9153213,18575922,17494052,16697732,16685652,12477932,12379656,10677218,10666468,20843780 11232 NG_013029,NM_007215,AC009994,AC138744,CH471109,AF142992,AF177201,AF184344,AK307801,BC000913,BC009194,BI826587,CR617858,U94703,HQ205845,HQ205846,HQ205847,HQ205848,HQ205849,HQ205850,HQ205851,HQ205852,HQ205853,HQ205854,HQ205855,HQ205856,HQ205857,HQ205858,HQ205859,HQ205860,HQ205861,HQ205862,HQ205863,HQ205864,HQ205865,HQ205826,HQ205827,HQ205828,HQ205829,HQ205830,HQ205831,HQ205832,HQ205834,HQ205835,HQ205836,HQ205837,HQ205838,HQ205839,HQ205840,HQ205841,HQ205842,HQ205843,HQ205844,AC234063 NP_009146,EAW94204,AAD50382,AAD56640,AAD56542,AAH00913,AAH09194,AAC51321,Q9UHN1,ADP91694,ADP91695,ADP91696,ADP91697,ADP91698,ADP91699,ADP91700,ADP91702,ADP91703,ADP91704,ADP91705,ADP91706,ADP91707,ADP91708,ADP91709,ADP91710,ADP91711,ADP91712,ADP91713,ADP91714,ADP91715,ADP91716,ADP91717,ADP91718,ADP91719,ADP91720,ADP91721,ADP91722,ADP91723,ADP91724,ADP91725,ADP91726,ADP91727,ADP91728,ADP91729,ADP91730,ADP91731,ADP91732,ADP91733 Hs.437009 HP55|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB DNA polymerase gamma accessory 55 kDa subunit|DNA polymerase subunit gamma-2, mitochondrial|mitochondrial DNA polymerase accessory subunit|mitochondrial DNA polymerase subunit gamma-2|mitochondrial DNA polymerase, accessory subunit|p55 protein-coding 1320482 POLH polymerase (DNA directed), eta This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. [provided by RefSeq] 1580863 20457011,15147214,15051760,14999287,14760703,14734526,14702039,14630940,14585988,14574404,14523013,12644471,12644469,12606586,12584190,12509472,12477932,12426396,12244178,11994004,11821420,11773631,11756691,11743006,11585903,11554790,11376341,11121129,11032022,10856253,10398605,10871396,10385124,17563354,18029348,19477635,19237606,19157994,19117014,19108641,19001268,18946034,18799611,18703314,18634905,18368133,18321066,18242151,18068156,17344931,17334634,17081983,16823845,16763556,16710452,16675950,16449651,16357261,16116089,16061253,15758026,15569147,15489334,15380106,15189446,15149598,20498091,20577208,20819778,16824193,17304240,18512958,19170759,19380493,19661089,19703417,19806028,19822754,19939936,20008555,20028736,20064529,20159558,20173781,20215648 5429 AK122807,AK294430,AK307660,AK316151,BC015742,DC416114,NG_009252,AB038008,AL353602,AL355802,AY388614,CH471081,AB024313,AF158185,AJ420484,AK023893,AK025631,NM_006502 BAG53738,BAG57675,BAH14522,AAH15742,Q5JTF2,Q9Y253,NP_006493,BAB18601,CAI12786,CAI12787,CAI42641,CAI42642,CAI42643,AAQ81300,EAX04209,EAX04210,EAX04211,EAX04212,BAA81666,AAD43810,BAG51237 Hs.655467 FLJ16395|FLJ21978|RAD30|RAD30A|XP-V|XPV DNA polymerase eta|OTTHUMP00000016480|RAD30 homolog A|xeroderma pigmentosum variant type protein protein-coding 1313103 POLI polymerase (DNA directed) iota 20574454,12777390,12606586,12477932,12466554,12426396,12410315,11707422,11515498,11402031,11387224,11356150,11251121,11230166,11205331,11076863,11013228,10887158,10856253,20673215,14630940,10458907,11256614,19440206,19368886,19237606,19162565,19116388,19074885,18984581,18923427,18799611,18270339,18194848,17609217,17056006,16914729,16763556,16527824,16472831,16381901,16357261,16354708,16344560,16195237,16189514,16166652,15657443,15609317,15489336,15489334,15342632,15313897,15254543,15231748,15199127,15189446,14702039,14701763,18029348,19060904,19170759,19604477,19767609,19789190,19861517,20159559,20226869,20453000,20496165,20961860 11201 NM_007195,AC093462,AY094607,CH471096,AF140501,AF245438,AK093688,AK226057,AK301578,AL136670,BC032617,BC032662,BM993293,BX649100,CR607269,DA315805,DB450447 NP_009126,AAM11872,EAW63000,EAW63001,AAD50381,AAF63383,BAH13516,CAB66605,AAH32662,Q9UNA4,CAL37856,ABM81819,ABM87810 Hs.438533 RAD30B|RAD3OB DNA polymerase iota|RAD30 homolog B|eta2|polymerase (DNA-directed), iota protein-coding 1343998 POLK polymerase (DNA directed) kappa 1580863 10620008,19237606,19188081,19117014,18931375,18079151,17494052,17317631,17099721,16751196,16611994,16354708,16055723,15989980,15938713,15817457,15661663,15601657,15533436,15489334,15296733,15199127,15189446,15147214,14702039,14630940,12952891,12477932,12444249,12414988,12145297,11994005,11842189,11784855,11024016,10887153,10760255,10518552,16218959,18512958,19170759,19341290,19492058,19542228,19628463,19939936,20379614,20496165 51426 AB036934,AB036935,AC010245,AC026424,AC116341,AY273797,CH471084,AB027564,AB209291,AF163570,AF194973,AF315602,AF318313,AK026316,AK091659,NM_016218,AK314610,AY769929,AY769930,AY769931,AY769932,BC014955,BC041798,BC050718 NP_057302,BAB58975,BAB58976,AAP12648,EAW95762,EAW95763,EAW95764,EAW95765,BAA86943,BAD92528,AAF02540,AAF23270,AAN15780,AAN15781,BAC03714,BAG37179,AAV80827,AAV80828,AAV80829,AAV80830,AAH14955,AAH50718,Q59G18,Q5Q9G5,Q5Q9G6,Q5Q9G7,Q5Q9G8,Q9UBT6 Hs.726312 DINB1|DINP|POLQ DNA polymerase kappa|OTTHUMP00000222073|OTTHUMP00000222074|OTTHUMP00000222123|OTTHUMP00000222124|OTTHUMP00000222125|OTTHUMP00000222127 protein-coding 1317600 POLL polymerase (DNA directed), lambda 1580863 10982892,19467241,19237606,19120024,19104052,19074885,19060005,18692600,18688254,17686665,17666409,17653665,17321545,17005572,16807316,16675458,16522650,16189514,15979954,15665310,15608652,15537631,15489334,15358682,15350147,15202001,15164054,15157109,14992725,14702039,14657033,14627824,16174846,14561766,12911298,12829698,12809503,12683997,12477932,12368291,12081642,11974915,11821417,11784855,11457865,10966791,10887191,20435673,20423048,20805875,20851705,16385451,17507928,17588522,19701199,19806195,19820168,19900463,20348107 27343 AF525924,AL627424,CH471066,AF161019,AF218027,AF283478,AJ131890,AJ844641,AJ844642,AK021600,AK022476,AK091106,AK094956,AK127896,AK292225,AK293421,AK293602,AK293657,AK300862,AL702021,AY302442,BC003548,BC068529,CR615868,CR619817,NM_013274,DC296090,DC379162,DC409528,NG_017063,NM_001174084,NM_001174085,NR_033406 Q5JQP1,Q5JQP2,Q5JQP3,Q5JQP4,Q5JQP7,Q5JQP8,Q5QJV5,Q5ZEY5,Q5ZEY6,Q9BTN8,Q9HAJ3,Q9HBN3,Q9UGP5,NP_037406,AAM77696,CAI41028,CAI41029,CAI41030,CAI41031,CAI41032,CAI41033,CAI41034,CAI41035,CAI41036,CAI41037,CAI41038,EAW49757,EAW49758,EAW49759,EAW49760,EAW49761,EAW49762,EAW49763,EAW49764,EAW49765,EAW49766,EAW49767,EAW49768,AAF27541,AAG17269,AAG22519,CAB65074,CAH59753,CAH59754,BAB13852,BAB14050,BAG54595,BAF84914,BAG56928,BAG57066,BAH11560,BAG62511,AAQ74388,AAH03548,AAH68529,Q5JQN9,Q5JQP0,NP_001167555,NP_001167556 Hs.523230 BETAN|FLJ46002|POLKAPPA DNA polymerase beta-2|DNA polymerase beta-N|DNA polymerase kappa|DNA polymerase lambda|OTTHUMP00000020320|OTTHUMP00000020322|OTTHUMP00000020323|OTTHUMP00000020326 protein-coding 1317912 POLM polymerase (DNA directed), mu 1580863 19237606,16963491,16061182,15520469,15504045,15199127,14702039,14581466,12640116,12477932,12368208,12228225,12077346,11974916,11972346,11724965,10982892,10737800,10747040,17588522,19805281 27434 CR620839,DC407437,AC017116,AY899911,CH236960,CH471128,AF176097,AJ131891,AK023002,AK092801,AK092903,AK291638,AK294449,AK307634,BC026306,BC035685,BC049202,BC062590,BI001584,CR606869,NM_013284 Q6P5X8,Q6PIY2,Q86WQ9,Q9H980,Q9NP87,NP_037416,AAW65376,EAW61120,EAW61121,EAW61122,EAW61123,EAW61124,EAW61125,EAW61126,EAW61127,AAF26284,CAB65075,BAB14353,BAF84327,BAG57686,AAH26306,AAH49202,AAH62590 Hs.596982 FLJ35482|Pol Mu|Tdt-N DNA polymerase mu|DNA-directed DNA/RNA polymerase mu|Pol iota|polymerase (DNA-directed), mu|terminal transferase protein-coding 1354283 POLN polymerase (DNA directed) nu 1580863 17118716,14702039,12794064,19995904,20379614,19908865,20102227 353497 NM_181808,AL136360,AL158068,CH471131,DQ060036,AF044578,AK131239,AK303673,AL122048,AY136549,BX509164 NP_861524,CAM20461,EAW82538,EAW82539,AAY43130,AAD02338,BAD18421,BAG64670,AAN52116,O95165,Q7Z5Q5,AAI46298,AAI56717,AAI56872,CAM16854 Hs.368454 POL4P DNA polymerase N|DNA polymerase POL4P|DNA polymerase nu|OTTHUMP00000216538 protein-coding 1320324 POLQ polymerase (DNA directed), theta 1580863 10395804,19237606,19188258,18503084,18366182,18270339,17150533,16835218,16824193,16603639,16520097,16222339,16188888,15496986,15342556,14735462,14576298,12051913,7829101,17353931,19661089,20624954 10721 AC079841,CH471052,AA767021,AB209867,AF043628,AF052573,AF090919,AW021928,AY032677,AY338826,BC034254,BP365212,CR936627,AC069239,NM_199420 EAW79510,EAW79511,EAW79512,EAW79513,EAW79514,BAD93104,AAD05272,AAC33565,AAF24036,AAK39635,AAR08421,CAI56770,O75417,Q59EE4,NP_955452,Q5CZ96,Q6VMB5,Q96SE4,Q9UI68,AAI72289 Hs.241517 DKFZp781A0112|POLH|PRO0327 DNA polymerase eta|DNA polymerase theta protein-coding 1345694 POLR1A polymerase (RNA) I polypeptide A, 194kDa 1580863 19214185,10477523,9582279,12393749,12646563,15342556,14743216,12477932,12446911,9236775,11250903,10567578,15226435,9285060,16514417,17643375,19615732,20379614 25885 U33823,NM_015425,AC009309,AC012511,CH471053,AK025568,AK294447,AK302458,AK304131,AK307490,AL117467,BC017115,BC073968,BC117173,BC126303,BC143345,BP363163,CR594845,U33460 NP_056240,AAY24277,EAW99467,EAW99468,EAW99469,BAB15171,BAH11770,BAH13716,BAH14113,CAB55942,AAH17115,AAI17174,AAI26304,AAI43346,AAC99959,O95602,Q53T12,Q96AG9,Q9H6T2,AAD09356 Hs.531818 A190|DKFZp586M0122|FLJ21915|MGC87965|RPA1|RPA194|RPO1-4|RPO14 DNA-directed RNA polymerase I largest subunit|DNA-directed RNA polymerase I subunit A|DNA-directed RNA polymerase I subunit A1|DNA-directed RNA polymerase I subunit RPA1|OTTHUMP00000203250|RNA polymerase I 194 kDa subunit|RNA polymerase I subunit A1 protein-coding 1348858 POLR1B polymerase (RNA) I polypeptide B, 128kDa Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM] 1580863 16514417,9582279,12393749,12646563,18194663,17499043,16880508,16055704,19214185,15815621,15226435,14743216,14702039,12477932,11981034,11953755,11592397,11250903,9254723,8921381,15558034,17474147,19615732 84172 NM_001137604,AC012442,CH471217,AK001678,AK022533,AK022890,AK025574,AK128044,AK172817,BC004882,NM_019014,BC073857,BC096748,BC110833,BC150139,BX647360,BX647683,CR615325,AK294027,AK301178,AK302814 NP_061887,NP_001131076,AAX81999,EAW73590,EAW73591,EAW73592,EAW73593,BAA91831,BAB14082,BAB14296,BAB15175,BAC87247,AAH04882,AAH73857,AAH96748,AAI10834,Q2TAM4,Q4QRK8,Q6DKI9,Q9BSR4,Q9H6S8,Q9H9Y6,Q9NVC2,BAH11652,BAH13423,BAH13809 Hs.726599 FLJ10816|FLJ21921|MGC131780|RPA135|RPA2|Rpo1-2 DNA-directed RNA polymerase I 135 kDa polypeptide|DNA-directed RNA polymerase I 135kDa polypeptide|DNA-directed RNA polymerase I subunit RPA2|RNA polymerase I subunit 2 protein-coding 1320170 POLR1C polymerase (RNA) I polypeptide C, 30kDa 14743216,14574404,12477932,12446911,12391170,11971179,11790298,11042152,9653160,9254723,8955128,17353931,15226435,9540830,9582279,12393749,12646563,16189514,15635413,15592455,15489334,17207965,17148452,19615732,16341674,19214185 9533 NM_004875,NM_203290,AL355802,CH471081,AF008442,AF047441,AK293561,BC008118,BC008863,BM828768,BQ575535,CR594415,CR602912,CR610719,CR613447,CR613677 NP_004866,NP_976035,CAI42627,CAI42628,CAI42629,CAI42630,CAI42631,CAI42632,CAI42633,EAX04204,EAX04205,EAX04208,AAC14354,AAC39892,BAG57033,AAH08118,AAH08863,O15160,Q5JTE0,Q5JTE4,Q96HT3,ADQ32708 Hs.727715 RP3-337H4.4|RPA39|RPA40|RPA5|RPAC1 AC40|DNA-directed RNA polymerase I subunit C|DNA-directed RNA polymerases I and III 40 kDa polypeptide|DNA-directed RNA polymerases I and III subunit RPAC1|OTTHUMP00000016467|RNA polymerase I subunit|RNA polymerases I and III subunit AC1|RPC40 protein-coding 1343756 POLR1D polymerase (RNA) I polypeptide D, 16kDa 1580863 17207965,9582279,12393749,12646563,16189514,15635413,15489334,15057823,14743216,14702039,12477932,12446911,12391170,11042152,8955128,15226435,17643375,19724895,19834535,19851296,20198315 51082 NM_152705,NM_015972,AL136439,CH471075,AF077044,AK000623,AK097973,AK307356,AK311833,BC000889,BC006972,BC015319,BC018528,BC054519,CR597733,CR601824,CR607937,CR619253,CR620465 ADQ33152,NP_689918,NP_057056,CAI16933,CAI16934,EAX08415,EAX08416,AAD27777,BAG34775,AAH00889,AAH06972,AAH15319,AAH18528,Q7Z776,Q9Y2S0 Hs.727563 FLJ20616|MGC9850|POLR1C|RPA16|RPA9|RPAC2|RPO1-3|TCS2 AC19|DNA-directed RNA polymerase I subunit D|DNA-directed RNA polymerases I and III subunit RPAC2|OTTHUMP00000018171|RNA polymerase I 16 kDa subunit|RNA polymerases I and III subunit AC2|RPC16|hRPA19 protein-coding 1602318 POLR1E polymerase (RNA) I polypeptide E, 53kDa 16514417,17353931,15489334,15226435,15164053,14743216,14702039,14627545,14613906,12477932,11698641,9373149,9254723,8641287,8125298,14585813,12429849,19214185,18029348,19615732,20379614 64425 NM_022490,AL158156,CH471071,AK023452,AK024032,AK091294,AK225050,AK301347,AK302345,AK303167,BC001337,BC014331,BC017766,CR457313,CR592070,CR598021,CR611501,CR612093,CR615159,CR619318,CR620462,AK125471,BC009757,BC014180,XR_108944,XR_113215,XR_114260 NP_071935,CAH73518,CAH73519,EAW58280,EAW58281,BAB14579,BAB14791,BAC03629,BAG62895,BAG63673,BAG64267,AAH01337,AAH14331,CAG33594,Q9GZS1 Hs.591087,Hs.605719 FLJ13390|FLJ13970|FLJ43482|PAF53|PRAF1|RP11-405L18.3 DNA-directed RNA polymerase I subunit E|DNA-directed RNA polymerase I subunit RPA49|RNA polymerase I associated factor 53|RNA polymerase I subunit A49|RNA polymerase I-associated factor 1|RNA polymerase I-associated factor 53|polymerase (RNA) I associated factor 1 protein-coding 1352013 POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq] 1580863 19913121,19920177,20628086,7622068,10075709,10944529,14992727,16239144,17996703,9405375,12226669,8946909,2999107,16109376,1939271,2449431,12168660,12154023,12145330,12126615,12114499,12062018,12054881,12052871,12049628,11940650,11809800,11683387,11575923,11547919,11459828,11313019,11149922,11112772,11080476,10983978,10958691,10932246,10931842,10908677,10866664,10784442,10773068,10757782,10737800,10725406,10704353,10698937,10620016,10617616,10574912,10567706,10545121,10536359,10454562,10454543,10438593,10393805,10393184,10373521,10364292,10359081,10329125,10199401,10069959,10066804,9874563,9765293,9765201,9710619,9705270,9696809,9671816,9651670,9632813,9570510,9491887,9450929,9443979,9372911,9346935,9334327,9315662,9312053,9311822,9268387,9201987,9184228,9159119,9153302,9121429,9054383,9002523,8934526,8910388,8889548,8876177,8849451,11238380,9845365,8895581,10490622,14506230,12955082,11504724,11714725,12198243,9305922,7926747,12660246,12612062,12665589,14576433,15175163,15235609,14578343,16009131,12588988,15546612,15808510,15829968,15502823,15565158,9409616,9512541,9790902,12676794,19309309,19237606,18815126,18632853,18588899,18419580,18408764,18342606,18294453,18079404,18079403,18032511,17584298,17525170,17098194,17028590,16949370,16344560,16314571,16210313,16118227,16086846,15886201,15640154,15592455,15570572,15542435,15302935,15144186,15099517,14963322,14701755,14684736,14612417,14569024,14536091,12914699,12887902,12721286,12642036,12634356,12579324,12565871,12560496,12477932,12435728,12391174,12381297,12379213,12376575,12358429,12234934,12221105,12200141,16246722,8800208,8700889,8700522,8676484,8637904,8034326,7853496,7638159,7533294,6200476,4506230,3860504,3145407,2190099,1559613,1542581,1487824,435297,12775419,12089333,17168834,16838299,16289656,18285459,15494311,12036313,16936726,17011493,17050672,20864038,14580349,15632063,15989967,16055720,17353931,17643375,18029348,18464913,19270065,20083121,20085707,9128241,9852112,16491129,17210645,17218272,19106100,19141475,19214185,19240132 5430 NG_027747,NM_000937,AC113189,CH471108,X59443,X74870,X74871,X74872,X74873,X74874,AK293777,AK304882,BC067295,BC137231,BQ891728,BU739765,CV355924,DA923649,M21610,X63564,AW589665,BC107140,BQ353795,BU730469 NP_000928,EAW90181,EAW90182,EAW90183,CAA52862,BAG57192,BAG65619,AAH67295,AAI37232,AAA60135,CAA45125,P24928,Q15161,Q6NX41 Hs.270017 MGC75453|POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1 DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit|DNA-directed RNA polymerase II subunit A|DNA-directed RNA polymerase II subunit RPB1|DNA-directed RNA polymerase III largest subunit|RNA polymerase II subunit B1|RNA-directed RNA polymerase II subunit RPB1 protein-coding 1319837 POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa This gene encodes the second largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with at least two other polymerase subunits, forms a structure within the polymerase that maintains contact in the active site of the enzyme between the DNA template and the newly synthesized RNA. 1580863 1518060,17353931,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,18270511,17584298,17583472,17499043,17494052,15886393,15670829,15489334,15282305,14992727,14569024,12887902,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12050112,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9110174,9054383,8934526,8910388,8876177,8849451,17998332,8800208,8676484,8637904,8619474,8034326,7853496,7638159,2320128,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163,19240132,17643375,19237606,19270065,20085707,20379614,9852112 5431 AAB23139 NM_000938,AC069307,CH471057,AF055028,AK289823,BC023503,BC046499,CR591583,CR592056,CR609388,X63563,AK294901,AK295132,AK299090 NP_000929,EAX05519,AAC09367,BAF82512,AAH23503,CAA45124,AAB23139,P30876,BAG57990,BAG58155,BAG61152 Hs.602757 POL2RB|RPB2|hRPB140|hsRPB2 DNA directed RNA polymerase II 140 kDa polypeptide, RNA polymerase II subunit 2, RNA polymerase II second largest subunit|DNA-directed RNA polymerase II 140 kDa polypeptide|DNA-directed RNA polymerase II subunit B|DNA-directed RNA polymerase II subunit RPB2|OTTHUMP00000158973|OTTHUMP00000201827|OTTHUMP00000218969|RNA polymerase II subunit 2|RNA polymerase II subunit B2 protein-coding 1315832 POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq] 1580863 9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,19237606,16455777,16169070,15489334,15282305,14569024,12887902,12860379,12642036,12634356,12477932,12379213,12221105,12207009,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10777215,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10493829,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9607318,9570510,9540830,9491887,9488465,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,8034326,7853496,7638159,2190099,2187864,1559613,12775419,12089333,17168834,16838299,16289656,16141233,15175163,19240132,17643375,18469135,9852112 5432 NM_032940,AC004382,AC009052,CH471092,AF008443,AJ224143,AJ224144,AK293112,AK300124,BC000409,BC003159,BC028157,BI458170,CR542041,CR594917,CR599625,CR600258,CR600374,CR606923,CR615542,CR615834,CR620330,CR620622,CR626527,J05448 Q6FGR6,ABM82337,ABM85512,ABW03756,NP_116558,AAC24309,EAW82926,EAW82927,EAW82929,EAW82930,AAC14355,CAA11842,CAA11843,BAF85801,BAH13217,AAH00409,AAH03159,AAH28157,CAG46838,AAA36586,P19387 Hs.79402 RPB3|RPB31|hRPB33|hsRPB3 DNA-directed RNA polymerase II 33 kDa polypeptide|DNA-directed RNA polymerase II subunit C|DNA-directed RNA polymerase II subunit RPB3|RNA polymerase II subunit 3|RNA polymerase II subunit B3|RPB33 protein-coding 1348749 POLR2CP polymerase (RNA) II (DNA directed) polypeptide C, pseudogene 10830953 54038 NG_000915,AF127936 pseudo 1318411 POLR2D polymerase (RNA) II (DNA directed) polypeptide D This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq] 1580863 10784442,10777215,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9528765,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16282592,15489334,14569024,12887902,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,9491887,9334327,9315662,9311822,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,7853496,7638159,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163,15893730,12393188,15604093,17643375,19237606,9852112 5433 NM_004805,AC006011,AC012306,CH471103,U89387,BC002958,BC010427,BC017205,BC093795,BC093797,CR597179,U85510,CR590602,AA775787 NP_004796,AAX82034,AAY14877,EAW95344,EAW95345,AAC52056,AAH10427,AAH17205,AAH93795,AAH93797,AAC80226,O15514,Q53T47,Q587J0,Q96FU3 Hs.554831 HSRBP4|HSRPB4|RBP4|RPB16 DNA-directed RNA polymerase II 16 kDa polypeptide|DNA-directed RNA polymerase II subunit D|DNA-directed RNA polymerase II subunit RPB4|OTTHUMP00000203872|OTTHUMP00000205986|RNA polymerase II 16 kDa subunit|RNA polymerase II subunit B4|RNA polymerase II subunit hsRBP4 protein-coding 1313437 POLR2E polymerase (RNA) II (DNA directed) polypeptide E, 25kDa This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. 1580863 19214185,19240132,7828586,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16169872,15635413,15489334,15057824,14702039,14615539,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11790298,11547919,11278533,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9488465,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,8034326,7853496,7638159,2753903,2190099,2071613,1559613,12775419,12089333,17168834,16838299,16289656,15175163,17207965,20211142,12393188,16055720,16169070,17643375,19237606,19450687,19615732,19773279,9852112 5434 S42643,NM_002695,AC004151,CH471139,AK122813,AK312625,BC004441,BC034144,D38251,DC414435,J04965,AK295975 AAA62401,AAB19339,P19388,NP_002686,AAC03238,EAW69547,EAW69548,EAW69549,EAW69550,BAG35511,AAH04441,AAH34144,BAA07406,ADQ32847,BAG58751 Hs.24301 RPABC1|RPB5|XAP4|hRPB25|hsRPB5 DNA directed RNA polymerase II 23 kda polypeptide|DNA-directed RNA polymerase II 23 kDa polypeptide|DNA-directed RNA polymerase II subunit E|DNA-directed RNA polymerases I, II, and III subunit RPABC1|RNA polymerases I, II, and III subunit ABC1|RPB5 homolog protein-coding 734063 POLR2F polymerase (RNA) II (DNA directed) polypeptide F This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes, that is also shared by the other two DNA-directed RNA polymerases. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. [provided by RefSeq] 1300048 19240132,9405375,12226669,8946909,18029348,1939271,2449431,9409616,9512541,9790902,12676794,18505059,16344560,15489334,15461802,14702039,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10623476,10617616,10591208,10545121,10542096,10536359,10438593,10393248,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8786150,8676484,8637904,7853496,7803819,7638159,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163,15989967,19237606,9852112 5435 NM_021974,AF006501,AL031587,CH471095,Z27113,AK311128,AK311831,BC003582,BU634038,CR456546,CR457021,CR608980,DA372532 NP_068809,CAB62981,EAW60202,EAW60203,CAA81629,BAG34773,AAH03582,CAG30432,CAG33302,P61218,CAK54577,CAK54876 Hs.436578 HRBP14.4|POLRF|RPABC2|RPB14.4|RPB6 DNA directed RNA polymerase II 14.4 kda polypeptide|DNA-directed RNA polymerase II subunit F|DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide|DNA-directed RNA polymerases I, II, and III subunit RPABC2|OTTHUMP00000199279|OTTHUMP00000199281|RNA Polymerase II subunit 14.4 kD|RNA polymerases I, II, and III subunit ABC2|RPABC14.4|RPB6 homolog|RPC15 protein-coding 733856 POLR2G polymerase (RNA) II (DNA directed) polypeptide G This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq] 1300048 10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9704926,9696809,9651670,9570510,9528765,9491887,9488465,9334327,9315662,9311822,9256063,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,7853496,7638159,7579693,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163,14667819,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,17848138,16327806,16282592,15489334,14569024,12912922,12887902,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10777215,10757782,10725406,10704353,10698937,10617616,10567706,10545121,17643375,19615732,9852112,19240132 5436 NM_002696,AP001160,CH471076,U52427,AK312131,AW016747,BC112162,BC112164,BG530809,CR596896,CR607005,U20659 NP_002687,EAW74090,EAW74091,EAW74092,AAB96827,BAG35067,AAI12163,AAI12165,AAA86500,P62487 Hs.14839 MGC138367|MGC138369|RPB19|RPB7|hRPB19|hsRPB7 DNA directed RNA polymerase II 19 kda polypeptide|DNA-directed RNA polymerase II 19 kDa polypeptide|DNA-directed RNA polymerase II subunit G|DNA-directed RNA polymerase II subunit RPB7|RNA polymerase II 19 kDa subunit|RNA polymerase II seventh subunit|RNA polymerase II subunit B7|polymerase (rna) ii (dna directed)polypeptide g protein-coding 1314889 POLR2H polymerase (RNA) II (DNA directed) polypeptide H This gene encodes one of the essential subunits of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. 1580863 17353931,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9582279,9790902,12393749,12646563,12676794,16632472,15635413,15489334,14743216,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11790298,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,15175163,8800208,8676484,8637904,8524256,7853496,7651387,7638159,3754875,2190099,1559613,1403646,12775419,12089333,17168834,16838299,20864512,17643375,19237606,20237496,9852112,19214185,19240132 5437 NM_006232,AC078797,AJ252079,AJ252080,CH471052,BC000739,CR590527,CR596627,CR621736,U37689,Z49199 NP_006223,CAB92189,EAW78246,EAW78247,AAH00739,AAA91458,CAA89060,P52434,ABZ92526 Hs.432574 RPABC3|RPB17|RPB8|hsRPB8 DNA-directed RNA polymerase II subunit H|DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide|DNA-directed RNA polymerases I, II, and III subunit RPABC3|OTTHUMP00000210505|OTTHUMP00000210507|OTTHUMP00000210508|OTTHUMP00000210509|OTTHUMP00000210511|OTTHUMP00000210512|RNA polymerases I, II, and III subunit ABC3|RPB8 homolog|hRPB8 protein-coding 1319717 POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. 1580863 1939271,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9184228,9121429,9054383,8934526,8910388,8876177,10725406,8849451,8800208,8676484,8637904,8034326,7853496,7638159,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163,19240132,8265347,9405375,12226669,8946909,2449431,9409616,9512541,9790902,12676794,15489334,15057824,14569024,12887902,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,19615732,9852112 5438 NM_006233,AD001527,Z23102,AK312206,BC017112,BC017860,BC067794 NP_006224,AAB51181,CAA80649,BAG35139,AAH17112,AAH67794,P36954,ABM84140,ABM87542 Hs.47062 RPB9|hRPB14.5 DNA-directed RNA polymerase II 14.5 kDa polypeptide|DNA-directed RNA polymerase II subunit I|DNA-directed RNA polymerase II subunit RPB9|RNA polymerase II 14.5 kDa subunit|RNA polymerase II subunit B9|RPB14.5 protein-coding 1320957 POLR2J polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq] 1580863 12775419,12089333,17168834,16838299,16289656,12207009,15175163,15489334,14569024,12887902,12853948,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12049628,12036295,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10783144,10757782,10725406,10704353,10698937,10617616,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9607318,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,7853496,7638159,2190099,15586814,1559613,8797801,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,19237606,16341674,19240132,17643375,9852112 5439 AC093668,AJ277928,AJ277929,AJ277930,AJ277932,AK290515,BC024165,BC040116,BC065711,BC139902,BC141830,BM545237,BM791979,L37127,NM_006234,X82385,X98433 NP_006225,CAC18368,BAF83204,AAH24165,AAH65711,AAI39903,AAI41831,AAD05361,CAA57785,CAA67075,P52435,Q9H1A6,ABM84077,ABM87445 Hs.654952 MGC71910|POLR2J1|RPB11|RPB11A|RPB11m|hRPB14 DNA-directed RNA polymerase II subunit J-1|DNA-directed RNA polymerase II subunit RPB11-a|RNA polymerase II 13.3 kDa subunit|RNA polymerase II subunit B11-a protein-coding 1604197 POLR2J2 polymerase (RNA) II (DNA directed) polypeptide J2 This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq] 16913423,15987790,15586814,12477932,12036295,11747469,10784442,9847074 246721 NM_032959,AC004084,AJ277738,AB209398,AI073388,CR621944,CR624568,CR625464,AJ277739,BC050598,BC056864,BC071870,BC086857,BC110985,CR596358,CR600981,CR606303,CR607828,CR614811 NP_116581,AAP22341,AAP22342,BAD92635,Q59FR2,Q9GZM3,CAC18329,AAH86857 Hs.700609,Hs.610255,Hs.656696 HRPB11B|MGC105050|MGC54043|RPB11b1 DNA directed RNA polymerase II polypeptide J-related|DNA-directed RNA polymerase II subunit J2|DNA-directed RNA polymerase II subunit RPB11-b1|OTTHUMP00000216459|RNA polymerase II subunit B11-b1 protein-coding 1606853 POLR2J3 polymerase (RNA) II (DNA directed) polypeptide J3 This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq] 16913423,15987790,15586814,12477932,12036295,11747469,9847074 548644 NM_001097615,AC004084,AC093668,AJ277736,AJ277931,AF468111,AJ277740,AJ277741,BC044209,BC113031,CR615948 NP_001091084,CAC18332,AAL87672,CAC18330,CAC18331,Q86UW4,Q8TDE6,Q9H1A7,AAI56864 Hs.656696 MGC54043|POLR2J2|RPB11b1|RPB11b2 DNA-directed RNA polymerase II subunit 11|DNA-directed RNA polymerase II subunit J3|DNA-directed RNA polymerase II subunit RPB11-b2|OTTHUMP00000213584|OTTHUMP00000217200|OTTHUMP00000217203|RNA polymerase II subunit B11-b2 protein-coding 2302533 POLR2J4 polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene 15586814,12477932,12036295,11747469,9847074 84820 NR_003655,AC004951,AC004985,AC017116,CH236951,AK296066,BC006435,BC017250,BC017341,BC062722,BC105584,BX537878,BX538054 BAG58825 Hs.657028 MGC13098|RPB11-phi pseudo 1352672 POLR2K polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. 1580863 10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,1403646,7651387,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9582279,9790902,12393749,12646563,12676794,17714821,15489334,15235609,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12213660,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,8876177,8849451,8800208,8676484,8637904,7853496,7638159,2190099,1559613,12775419,12089333,17168834,16838299,15175163,19237606,19950226 5440 NM_005034,AC025647,AJ252078,CH471060,BC000806,BC018157,CR456870,CR597305,CR610014,Z47727 NP_005025,CAB91873,EAW91798,EAW91799,AAH00806,AAH18157,CAG33151,CAA87656,P53803,ABM82085,ABM85266 Hs.351475 ABC10-alpha|RPABC4|RPB10alpha|RPB12|RPB7.0|hRPB7.0|hsRPB10a DNA directed RNA polymerases I, II, and III 7.0 kda polypeptide|DNA-directed RNA polymerase II subunit K|DNA-directed RNA polymerases I, II, and III subunit RPABC4|RNA polymerase II 7.0 kDa subunit|RNA polymerases I, II, and III subunit ABC4 protein-coding 1349201 POLR2L polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq] 10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10474687,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8889548,8876177,8849451,8800208,8676484,8637904,7853496,7651387,7638159,2190099,11080476,1559613,8524256,9405375,12226669,8786124,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16189514,15489334,15231747,14743216,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,1403646,12775419,12089333,17168834,16838299,15175163,9852112,19214185 5441 NM_021128,AP006623,CH471158,Z47728,Z47729,AK311997,BC005903,BC018649,BQ435190,BU679804,CR536565,U37690 NP_066951,EAX02408,CAA87657,CAA87658,BAG34935,AAH05903,AAH18649,CAG38802,AAA91459,P62875,ABM84072,ABM87439,ABM87561 Hs.441072 RBP10|RPABC5|RPB10|RPB10beta|RPB7.6|hRPB7.6|hsRPB10b DNA-directed RNA polymerase III subunit L|DNA-directed RNA polymerases I, II, and III subunit RPABC5|RNA polymerase II 7.6 kDa subunit|RNA polymerases I, II, and III subunit ABC5|RPB10 homolog protein-coding 1345066 POLR2LP polymerase (RNA) II (DNA directed) polypeptide L pseudogene 493825 1351863 POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1580863 16344560,17643375,19609254,19615732,20379614,9331371,12477932,12391170,12384934,11416169,1403646,19913121,20628086 11128 AK300329,CA449326,DA103416,DA353439,NM_007055,AL512628,CH471083,AF021351,AK024744,AK026023,AY091459,AY091460,AY091461,AY091462,BC014399,BC041089,CR610303 BAH13260,NP_008986,CAI16466,EAW54617,AAB86536,AAM12029,AAM12030,AAM12031,AAM12032,AAH14399,AAH41089,O14802,Q7Z755,Q8TCW2,Q8TCW3,Q8TCW4 Hs.436896 RPC1|RPC155|hRPC155 DNA-directed RNA polymerase III largest subunit|DNA-directed RNA polymerase III subunit A|DNA-directed RNA polymerase III subunit RPC1|RNA polymerase III 155 kDa subunit|RNA polymerase III subunit C1|RNA polymerase III subunit C160|RNA polymerase III subunit RPC155-D protein-coding 1351468 POLR3B polymerase (RNA) III (DNA directed) polypeptide B 737633,1580863 16344560,15489334,14702039,12477932,12391170,1403646,18044988,17903297,17643375,19609254,19615732,20379614,19331820 737633 55703 NM_018082,NM_001160708,AC009721,AC078992,AC080012,CH471054,AK001161,AK001250,AK090636,AK092031,AK122713,AK291635,AY092084,BC017501,BC033542,BC033724,BC046238,BX537447,BX648712,CR595354,DA236776,DB094040 NP_060552,NP_001154180,EAW97780,EAW97781,BAA91527,BAA91581,BAG52201,BAG52470,BAG53685,BAF84324,AAM18214,AAH46238,CAD97689,Q7Z3R8,Q9NW08 Hs.62696,Hs.610795 C128|DKFZp686B10117|FLJ10388|RPC2 DNA-directed RNA polymerase III 127.6 kDa polypeptide|DNA-directed RNA polymerase III subunit B|DNA-directed RNA polymerase III subunit RPC2|RNA polymerase III subunit C2 protein-coding 1323060 POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) 1580863 9171375,15489334,12477932,12391170,12384934,10523658,10373544,9373149,8125298,1403646,17643375,19609254,20970119 10623 NM_006468,AJ238221,AJ238234,AL160282,CH471244,AK223413,AY091463,BC002586,BC004424,CR592330,CR605615,CR608817,CR613712,U93867 NP_006459,CAB41919,EAW71434,EAW71435,EAW71436,BAD97133,AAM12033,AAH02586,AAH04424,AAB63675,Q53F76,Q9BT08,Q9BUI4 Hs.591457 RPC3|RPC62 DNA-directed III 62 kDa polypeptide|DNA-directed RNA polymerase III subunit C|DNA-directed RNA polymerase III subunit RPC3|OTTHUMP00000015592|RNA polymerase III 62 kDa subunit|RNA polymerase III subunit C3 protein-coding 1323468 POLR3D polymerase (RNA) III (DNA directed) polypeptide D, 44kDa This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. 1580863 17081983,15489334,12477932,12391170,11279001,7947392,7799973,3683386,2714790,1403646,17643375,19631370,17207965 661 NM_001722,AC105206,CH471080,L15301,AF346574,AK026588,AY092086,BC000516,BC002603,BC003039,BC004484,BQ006609,CR536509,CR541803,CR595334,CR598620,CR602098,CR609079,CR609971,CR611897,CR622854,M17754,AK295725 AAA51838,P05423,NP_001713,EAW63689,EAW63690,EAW63691,EAW63692,AAA72377,AAK15371,AAM18216,AAH02603,AAH04484,CAG38747,CAG46602,BAG58566,ADQ31797 Hs.148342 BN51T|RPC4|RPC53|TSBN51 BN51 (BHK21) temperature sensitivity complementing|DNA-directed RNA polymerase III 47 kDa polypeptide|DNA-directed RNA polymerase III subunit D|DNA-directed RNA polymerase III subunit RPC4|RNA polymerase III 47 kDa subunit|RNA polymerase III subunit C4|RPC53 homolog|temperature sensitive complementation, cell cycle specific, tsBN51 protein-coding 1317654 POLR3E polymerase (RNA) III (DNA directed) polypeptide E (80kD) 1580863 19214185,15489334,14702039,12477932,12391170,10819331,10521666,9373149,8125298,1403646,17643375,19615732 55718 NM_018119,AC009034,AC092338,CH471249,AB040885,AK001371,AK023160,AK023231,AK026645,AK130661,AK222671,AK222789,AY092085,BC000285,AK293300,AK296813,AK300735,CR625743 NP_060589,EAW50605,EAW50606,EAW50607,EAW50608,BAA95976,BAA91655,BAB14437,BAB14481,BAD96509,AAM18215,AAH00285,Q53GZ2,Q9NVU0,BAG56821,BAG59386,BAG62408 Hs.460298 RPC5|SIN DNA-directed RNA polymerase III 80 kDa polypeptide|DNA-directed RNA polymerase III subunit RPC5|RNA polymerase III 80 kDa subunit RPC5|RNA polymerase III subunit C5 protein-coding 1315038 POLR3F polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. [provided by RefSeq] 1580863 17612402,9171375,16169070,10623476,15489334,14702039,12477932,12391170,11780052,10523658,9373149,8125298,1403646,19631370 10621 NM_006466,AL121893,CH471133,AK096684,AK223298,AK290892,AK314838,BC012588,BC016761,U93869 NP_006457,CAC11110,EAX10239,EAX10240,EAX10241,BAD97018,BAF83581,AAH12588,AAH16761,AAB63677,Q05DB8,Q53FI8,Q9H1D9,ABM83621,ABM87168 Hs.472227 MGC13517|RPC39|RPC6 DNA-directed RNA polymerase III 39 kDa polypeptide|DNA-directed RNA polymerase III subunit F|DNA-directed RNA polymerase III subunit RPC6|DNA-directed RNA polymerases III 39 kDa polypeptide|RNA polymerase III 39 kDa subunit|RNA polymerase III C39 subunit|RNA polymerase III subunit C6 protein-coding 1348674 POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) 1580863 9171375,16341674,15342556,12391170,1403646,17643375,19609254,19631370 10622 NM_006467,AC027323,AC093510,CH471084,AK025490,AK295434,BM788728,BP348952,CD657312,U93868 NP_006458,EAW95980,EAW95981,EAW95982,BAG58376,AAB63676,O15318,AAI40283,AAI41650 Hs.282387 RPC32|RPC7 DNA-directed RNA polymerase III 32 kDa polypeptide|DNA-directed RNA polymerase III subunit G|DNA-directed RNA polymerase III subunit RPC7|OTTHUMP00000222694|OTTHUMP00000222697|RNA polymerase III 32 kDa subunit|RNA polymerase III subunit C7 protein-coding 1353647 POLR3GL polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 737633 14702039,12477932,20154270 737633 84265 NM_032305,AL160282,CH471244,CS185581,AK056984,AK092209,BC004355,BC050418,DQ418461 NP_115681,EAW71412,EAW71413,EAW71414,CAJ42762,BAB71332,AAH04355,ABD76394,Q9BT43 Hs.591456 FLJ34890|MGC3200|RPC32HOM|flj32422 DNA-directed RNA polymerase III subunit G-like|DNA-directed RNA polymerase III subunit RPC7-like|RNA polymerase III subunit C7-like|RPC32-like protein|alternative RNA polymerase III subunit 32 protein-coding 1314191 POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) 1580863 20843307,12391170,19246067,16344560,15489334,15461802,12477932,11258795,10591208,8889548,1403646,16712791,17643375,19615732 171568 NM_001018050,NM_138338,AL023553,CH471095,AB051452,AK000365,AK026524,AK129663,AY092087,BC017248,NM_001018052,BC088367,BI754673,BM681267,BU928882,BX331353,BX367405,CB126821,CR456459,CR597879,CR606203,CR621091,DA238361 NP_001018062,NP_001018060,NP_612211,CAB46023,EAW60437,EAW60438,EAW60439,EAW60440,EAW60441,BAB33335,BAC85211,AAM18217,AAH17248,AAH88367,CAG30345,Q6ZPA8,Q9Y535,CAK54440,CAK54739,ACT64405,ACT64406 Hs.712617 KIAA1665|MGC111097|MGC29654|RPC22.9|RPC8 DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide|DNA-directed RNA polymerase III subunit H|DNA-directed RNA polymerase III subunit RPC8|OTTHUMP00000198837|RNA nucleotidyltransferase (DNA-directed)|RNA polymerase III subunit 22.9 kDa subunit|RNA polymerase III subunit C8|RNA polymerase III subunit RPC8 protein-coding 1350025 POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. [provided by RefSeq] 1580863 15616553,15489334,12477932,12391170,11157797,10079944,9054936,1403646,9869639,18029348,17499043,16728641 51728 NM_016310,AE006462,AF126531,CH471112,DQ431198,Z69719,AF051316,AF060223,BC011932 NP_057394,AAK61210,AAD31424,EAW85879,ABD95903,CAI95605,AAF18268,AAG43123,AAH11932,Q9Y2Y1,ABM87280,ABW03869 Hs.632223 C11|C11-RNP3|My010|RPC10|RPC11|RPC12.5|hRPC11 DNA-directed RNA polymerase III subunit K|DNA-directed RNA polymerase III subunit RPC10|DNA-directed RNA polymerases III 12.5 kDa polypeptide|RNA polymerase III 12.5 kDa subunit|RNA polymerase III subunit (hRPC11)|RNA polymerase III subunit C10|RNA polymerase III subunit C11|RNA polymerase III subunit CII|hsC11p protein-coding 1312131 POLRMT polymerase (RNA) mitochondrial (DNA directed) This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq] 1580863 20562859,17337445,18063578,19237606,16079853,15526033,15258572,15057824,12477932,12068295,9373149,9097968,8125298,12897151,18029348,19624753,20129056,20877624 5442 NM_005035,AC004449,CH471242,AB209920,AK225723,AK225865,AK302877,AK307525,BC024170,BC030829,BC070057,BC098387,U75370,NG_023049 NP_005026,AAC06147,EAW61177,EAW61178,BAD93157,BAG64057,AAH98387,AAB58255,O00411,Q4G0F4,Q59E91 Hs.254113 APOLMT|MTRNAP|MTRPOL|h-mtRPOL DNA-directed RNA polymerase, mitochondrial protein-coding 2306344 POLRMTL polymerase (RNA) mitochondrial (DNA directed)-like 284167 NG_011773,AC008158,AY672105,AC053481,AC124802 Hs.512026 POLRMTL|POLRMTP1 pseudo 1316507 POLS polymerase (DNA directed) sigma The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. [provided by RefSeq] 18421076,18330920,15489334,12477932,10066793,19240061,11459963,10926539,18821564,19734545 11044 NM_006999,AC122710,AY623114,CH471102,AB005754,AF089896,AI871781,AK289857,AK303516,AK308405,BC084567,BC117137,BC126106,BC143882,CR607319,NM_001171805,NM_001171806,R49553 NP_008930,AAT38110,EAX08101,BAA24434,AAD45198,BAF82546,BAG64545,AAH84567,AAI17138,AAI26107,AAI43883,Q5XG87,ADR83059,NP_001165276,NP_001165277 Hs.481542 LAK-1|LAK1|POLK|POLS|TRF4|TRF4-1|TRF41|TUTASE5 DNA polymerase kappa|DNA polymerase sigma|PAP-associated domain-containing protein 7|TUTase 5|polymerase (DNA directed) sigma|polymerase (DNA-directed) sigma|terminal uridylyltransferase 5|topoisomerase-related function protein 4-1 protein-coding 1605101 POM121 POM121 membrane glycoprotein (rat) The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is an integral membrane protein that localizes to the central spoke ring complex and participates in anchoring the nuclear pore complex to the nuclear envelope. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq] 20624389,20936779,10601273,17900573,9734811,8335683,7789967,9621063,20974814,9847074,17081983,16713569,16189514,15304359,14702039,12853948,12477932,12228227,11707516,11448991,10546895,16169070,17577209 9883 NM_172020,CH471200,AB014518,AB289621,AK001215,AK022555,AK123814,AK292548,AL080109,AL713666,BC001518,BC008794,BM994161,AC005488 NP_742017,EAW69698,BAA31593,BAF80887,BAB14097,BAF85237,CAB45713,CAD28472,AAH01518,AAH08794,Q96HA1 Hs.655217 DKFZp586G1822|DKFZp586P2220|FLJ41820|KIAA0618|MGC3792|POM121A OTTHUMP00000160223|OTTHUMP00000160224|P145|nuclear envelope pore membrane protein POM 121|nuclear envelope pore membrane protein POM 121A|nuclear pore membrane protein 121 kDa|nucleoporin Nup121|pore membrane protein of 121 kDa protein-coding 2290514 POM121B POM121 membrane glycoprotein B (pseudogene) 17900573,12853948,19413330,9847074 100288540 AC073841,NG_013116 A6NF01 pseudo 2290521 POM121C POM121 membrane glycoprotein C 17900573,14702039,12477932,12073013,11779826,9847074,17577209,20936779 100101267 NM_001099415,AC006014,AC018720,AB354586,AK125865,AK127026,AK293305,AK293781,AK311407,AL050158,BC013954,BC082993,BC130587,BC130589,BX649044 NP_001092885,BAF80888,BAG56826,BAG57196,AAI30588,AAI30590,A8CG34 Hs.712563 DKFZp586P2220|DKFZp779K1713|FLJ43877|FLJ45082|MGC163459|MGC163461|POM121-2 POM121 membrane glycoprotein-like|nuclear envelope pore membrane protein POM 121C|nuclear pore membrane protein 121-2|pore membrane protein of 121 kDa C protein-coding 2303890 POM121L10P POM121 membrane glycoprotein-like 10 (rat) pseudogene 646074 NR_024593,AP000356,BX648116 Hs.531306 DKFZp686I1532 pseudo 2303438 POM121L11P POM121 membrane glycoprotein-like 11 (rat) pseudogene 100129643 XM_001719478,XM_001725986 XP_001719530,XP_001726038 Hs.710499 pseudo 1601803 POM121L12 POM121 membrane glycoprotein-like 12 (rat) 14702039 285877 NM_182595,AC074397,AL833888,BI826445,BX104052 NP_872401,CAD38744,Q8N7R1 Hs.381970 OTTHUMP00000209038|POM121-like protein 12 protein-coding 1347281 POM121L1P POM121 membrane glycoprotein-like 1 (rat) pseudogene This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq] 12477932,9391893,9074928 25812 NR_024591,NG_000002,D87002,AK292412 BAA19999,BAF85101,Q5NV78 Hs.367764 FLJ76724|POM121L1 pseudo 1343533 POM121L2 POM121 membrane glycoprotein-like 2 (rat) 19571809 94026 NM_033482,AL021808 NP_258443,CAB36861,Q96KW2 Hs.352679 POM121-L|POM121L OM121 membrane glycoprotein (rat homolog)-like 2|POM121 membrane glycoprotein (rat homolog)-like 2|POM121-like protein 2 protein-coding 1353023 POM121L3 POM121 membrane glycoprotein-like 3 (rat) 651452 NG_008187,AL133466 POM121L3|dJ831C21.3 pseudo 1352964 POM121L4P POM121 membrane glycoprotein-like 4 pseudogene (rat) 15489334,12477932 266697 NR_024592,AC007050,BC103891 Q3SYA9 Hs.558711 MGC119266 pseudo 1344633 POM121L6P POM121 membrane glycoprotein-like 6 pseudogene (rat) 729392 NG_008948,AL133255 bA239L20.2 pseudo 2308874 POM121L7 POM121 membrane glycoprotein-like 7 (rat) 728418 NG_009026,AP000550 pseudo 2291787 POM121L8P POM121 membrane glycoprotein-like 8 (rat) pseudogene 17974005,15252450,12477932,11230166 29797 AK292222,AK302597,AK302811,AK308294,AK308336,AL117485,BC034793,BC050331,BC050342,BC051721,BC068032,BC090873,BC112340,DQ786190,AP000552,NR_024583,AC008103,AC008132 BAF84911,BAG63849,BAG64011,Q5BKY6,ACE87548,ACE86860 Hs.648270,Hs.318898,Hs.726484,Hs.728104 DKFZp434K191|FLJ60978|FLJ61495|FLJ76361|FLJ98242|FLJ98284 pseudo 1601871 POM121L9P POM121 membrane glycoprotein-like 9 (rat) pseudogene This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq] 16381901,16344560,15489336,12975309,12477932,11230166,11076863 29774 NR_003714,AP000354,CH471095,AL040062,AL045566,AL117401,AL117484,AY358961,BC063879,BC086868,BX107726,DB072014 EAW59653,EAW59654,EAW59655,CAB55902,AAQ89320,CAL37766,CAL37978 Hs.534980 DKFZP434P211|UNQ2565 pseudo 1352097 POMC proopiomelanocortin This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the polypeptide precursor and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1601430,1357925,1601429,1580863,1357926 19913121,20602615,20610647,20628086,20634197,20170714,20734064,9620771,19574343,19527514,19491387,19453261,19384953,19337797,19297547,19282378,19217079,19167016,19086053,19077438,19077144,19058789,19049975,19019335,18996102,18992263,18974267,18818748,18753988,18697863,18636124,18600473,18589403,18551113,18510797,18398047,18391951,18388149,18378043,18294637,18234565,18091355,18057378,17719137,17696832,17687619,17604950,17545153,17525122,17503481,17487313,17363457,17351784,17347308,17317724,17235324,17122358,17108680,17079660,17043312,16984256,16946714,16876316,16876134,16807684,16752831,16740999,16682835,16675966,16459315,16459314,16289330,16222047,16177130,16136012,16136011,16091310,16081629,16046867,16046320,15951321,15949633,15864412,15862552,15812563,15798195,15666849,15666826,15597110,15585384,15560758,15546902,15498881,15489334,15480745,15472174,15464199,15358786,15340161,15251468,15226502,15102092,15100697,15099286,15009732,15004414,14729605,14645373,14576363,14532850,14463577,12944398,12914931,12887283,12787137,12697721,12643442,12590613,12566947,12485424,12477932,12475731,12220743,12213892,12165561,12068494,12039064,12032760,11979399,11936276,11606131,11278902,11244459,11151766,11101306,11041375,10942578,10193875,9768693,9186529,8185570,7828531,7726641,7477400,6945581,6546764,6314261,6299668,6280146,6274691,6272808,6267033,6254047,6196780,4352834,4347148,4338630,4334191,3606677,2839146,2558057,2475499,2424570,1656407,1264228,195688,9851780,9058374,16610949,10233018,12591959,16892066,18240029,18292087,19119631,19170705,19363600,19426838,19452503,19560499,19561113,19723618,19743876,19747414,19790046,19797501,19835629,19874574,20097762,20191296,20200332,20403506,20424473,20468064,7905839,8208289,12036966,20176366,20482620,21037584,19770186,20810565,4368999,20935630 1601430,1357925,1601429,1357926 5443 NM_000939,NM_001035256,NG_008997,AC012457,CH471053,J00291,J00292,V01510,AI341269,AW951218,BC065832,BT019918,CB988233,CR541826,DQ884404,M25896,M28636,M38297,S76492 NP_000930,NP_001030333,AAY24354,EAX00729,EAX00730,AAB59621,CAA24754,AAH65832,AAV38721,CAG46625,ABI63371,AAA35799,AAA60139,AAA60140,AAC60644,P01189,Q53T23,Q53WY7,Q5TZZ7,Q6FHC8,Q6LDP0 Hs.1897 ACTH|CLIP|LPH|MSH|NPP|POC OTTHUMP00000200964|OTTHUMP00000200965|adrenocorticotropic hormone|adrenocorticotropin|alpha-MSH|alpha-melanocyte-stimulating hormone|beta-LPH|beta-MSH|beta-endorphin|beta-melanocyte-stimulating hormone|corticotropin-like intermediary peptide|corticotropin-lipotropin|gamma-LPH|gamma-MSH|lipotropin beta|lipotropin gamma|melanotropin alpha|melanotropin beta|melanotropin gamma|met-enkephalin|pro-ACTH-endorphin|pro-opiomelanocortin|proopiomelanocortin preproprotein 1643262,1643271,2289166,2289172,2289226,2289642,2289647,2289649 BW207_H,BW214_H,SLEP5_H,SLEP6_H,SLEP8_H,BW507_H,INSUL1_H,BW508_H protein-coding 1601994 POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene. 16857188,16710414,16344560,15489334,15466003,15236414,15207699,14702039,12975309,12788071,12588800,12477932,12467726,10737800,9915951,9373149,8125298,20816175,11742540,11709191,19299310,17906881,17881266,17878207,17869517,16712791 55624 NR_024332,NM_017739,NG_009205,AL672043,CH471059,AB057356,AF250859,AK000284,AK022727,AK026430,AK055301,AK056186,AK225033,AK301923,AK302379,AK316399,AW818474,AY358592,BC001471,BM999774,BQ448444,CB146374,CR749700,DA187331 NP_060209,CAH72469,CAH72470,EAX06932,EAX06933,EAX06934,EAX06935,EAX06936,BAB71960,AAF71270,BAA91053,BAB14207,BAH13588,BAH13690,BAH14770,AAQ88955,AAH01471,CAH18478,Q5VST3,Q68CV6,Q8WZA1 Hs.525134 DKFZp761B182|FLJ20277|GNTI.2|MDDGA3|MDDGB3|MDDGC3|MEB|MGAT1.2 OTTHUMP00000008902|UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2|gnT I.2|protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 protein-coding 1314101 POMP proteasome maturation protein 18029348,17948026,16624403,16251969,15944226,15489334,15057823,14733938,12477932,12060596,11042152,10973495,10926487,10891394,20226437,20379614 51371 NM_015932,AL359454,CH471075,AF077200,AF125097,AF262975,AF275807,AK312118,BC003390,BC014334,CD369437,CR600731,CR608459,EF535527,NG_027550,GU045555,GU045556 NP_057016,CAI17157,EAX08434,EAX08435,AAD26995,AAD39914,AAK58521,AAG23819,BAG35054,AAH03390,AAH14334,ABQ08566,Q9Y244,ABM85055,ADE92939,ADE92940 Hs.268742 C13orf12|HSPC014|PNAS-110|UMP1 2510048O06Rik|chromosome 13 open reading frame 12|hUMP1|proteasome maturation protein|proteassemblin|protein UMP1 homolog|voltage-gated K channel beta subunit 4.1|voltage-gated potassium channel beta subunit 4.1 protein-coding 1348575 POMT1 protein-O-mannosyltransferase 1 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene. 731235,1580863 20634891,10366449,14699049,19299310,18647264,18513969,17878207,17869517,17079174,16698797,16344560,16303743,15792865,15637732,15522202,15489334,15037715,14702039,12925572,12757935,12477932,12369018,20816175,16887026,19519795,19639522,19880378 731235 10585 NM_001136113,NM_007171,AK000475,AK074874,AK074888,AK094558,AK293529,AK295458,AK295561,AK299646,AK300393,AK300511,AK301486,AK303254,AK307876,NM_001077366,NM_001136114,NG_008896,AF095150,AL358781,NM_001077365,CH471090,CQ783718,AF095136,AK315218,BC065268,BC022877,BF984005,DB154785,AB209430 NP_009102,NP_001129585,BAA91190,BAG52022,BAC11269,BAG57011,BAG58392,BAG58462,BAG61567,BAG62126,BAG62223,BAG63000,BAG64337,NP_001070833,NP_001070834,NP_001129586,AAD41246,CAI40219,CAI40220,CAI40221,CAI40222,CAI40223,CAI40224,CAI40225,CAI40226,CAI40227,EAW87974,EAW87975,EAW87976,EAW87977,EAW87978,CAF86827,AAD41245,AAH22877,AAH65268,Q59FN0,Q5JSZ6,Q5JT03,Q5JT05,Q5JT07,Q9Y6A1,BAD92667 Hs.522449 FLJ37239|LGMD2K|MDDGA1|MDDGB1|MDDGC1|RT dolichyl-phosphate-mannose--protein mannosyltransferase 1|protein O-mannosyl-transferase 1 protein-coding 1313480 POMT2 protein-O-mannosyltransferase 2 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS). 1580863 20816175,19299310,18804929,18513969,18490429,17923109,17878207,17634419,16698797,16344560,15894594,15489334,14702039,14699049,12508121,12477932,12460945,11162531,8889548,16887026,19138766,19880378,16712791 29954 NM_013382,NG_008897,AC007375,AC007954,CH471061,AB209114,AF105020,AI927974,AK023804,AK025962,AL049462,AL353956,AL554279,AY090480,BC031651,BE797202,BM127609,BM724049,BX248027,CB148531,CR627447,DA056935,DB456599 NP_037514,AAF63184,AAF62558,EAW81276,EAW81277,BAD92351,AAF14118,CAB89256,AAM12046,AAH31651,CAD62348,CAH10531,Q59GJ5,Q6AHY3,Q9UKY4 Hs.132989 DKFZp686G10254|FLJ22309|MDDGA2|MDDGB2|MDDGC2 dolichyl-phosphate-mannose--protein mannosyltransferase 2|protein O-mannosyl-transferase 2 protein-coding 1350881 POMZP3 POM (POM121 homolog, rat) and ZP3 fusion This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 12477932,11329013,7789967,16702234 22932 A56844 NM_152992,NM_012230,AC004980,BC000487,BC017101,BG461659,BI084456,CR603033,CR616549,U10099 NP_694537,NP_036362,AAA85788,A56844,Q6PJE2,AAI48539,AAI53131 Hs.488877 MGC8359|POM-ZP3|POM121 OTTHUMP00000208707|OTTHUMP00000208708|POM (POM121 homolog, rat) and ZP3 fusion|POM (POM121 rat homolog) and ZP3 fusion|POM-ZP3 fusion protein|POM121 and ZP3 fusion protein|POM121/ZP3 fusion protein protein-coding 1349272 PON1 paraoxonase 1 The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq] 1642617,1642618,1642628,2313268,2313270,2313273,2307252,1580196,1580197,1580198,1580199,1580200,1580201,1580202,1580203,1580204,1580227,1580863,2313266,2313267,2313269,2313272 19913121,20485444,20486838,20503442,20529763,20536507,20538124,20577119,20602615,20615707,20628086,20634891,20639675,20646512,20658496,20664283,20673868,20679960,20691716,20723250,20734577,20820904,20625960,20453498,20551012,19945920,20510879,16712791,20582942,20133274,20845892,20156521,15853770,15823275,15797522,15774926,15767359,15721005,15715671,15704252,15681296,15654230,15642273,15629887,15580063,15576850,15538743,15488880,15488805,15454272,15450851,15368102,15359538,15346646,15345661,15331145,15284530,15270786,15256524,15251338,15241482,15236768,15232408,15214960,15166781,15163466,15140512,15136237,15135268,15124181,15097870,15090300,15087255,15076187,15060281,15050299,15039125,15023811,15016430,15015140,15008790,15001326,14996478,14985779,14967092,14767577,14760718,14695884,14686479,14669822,14642415,14642403,14636952,14624476,14602783,14579940,14527200,14511766,14500290,12963475,12957728,12955589,12928148,12889841,12871320,12853948,10479665,15772423,7638166,15342686,15721011,1657140,14718574,16682745,19651761,19646734,19634497,19615988,19602899,19597297,19587357,19579917,19575027,19540141,19527514,19479237,19454508,19454176,19434854,19421925,19420105,19401157,19379515,19376276,12849920,8812495,8770857,8675673,8661009,8393745,8393742,8382160,8292612,8098250,7916578,6324579,1718413,16185677,16175651,16142697,16141008,16140307,16128586,16120573,16117861,16112460,16112327,16105444,16094856,16080611,16078734,16077191,16052486,16035730,16030523,16027737,16023312,16008163,16002382,15995178,15993880,15993873,15982977,15974833,15969877,15952113,15939049,15928879,15925115,15924216,15922013,15900219,15899485,15877867,15865106,16213467,15864126,15853807,12824947,12805074,12790379,12783936,12777966,12756158,12740482,12706315,12697270,12690205,12679462,12645966,12640090,12625227,12621166,12618290,12618279,12615663,12601623,12588779,12575193,12566597,12563177,12545199,12536571,12531885,12480756,12480737,12477932,12474066,12466264,12454802,12442067,12417809,12355548,12241013,12210872,12204800,12204423,12196500,12151850,12139735,12082592,12082503,12080042,12074828,12074827,12052975,12052142,12009854,11993715,11971942,11940319,11935033,11918623,11918278,11889198,11888590,11888532,11880198,11860890,17412348,17412306,17373636,17334638,17309646,17304721,17299970,17296173,17286579,17204329,17183021,17173245,17136774,17125774,17118352,17106515,17090529,17078098,17065348,17001213,16996683,16985026,16949520,16949193,16942773,11851721,11810302,11805006,11788650,11768721,11752456,11740946,11726658,11714857,11692002,11676977,11668222,11596674,11557671,11555845,11512679,11511976,11511975,11476678,11472729,11428219,11409295,11395042,11388660,11375798,11341749,11335891,11328206,11257264,11239953,11231922,11151764,11104219,11096050,11073850,10669651,9714608,9661650,9261565,9011577,18347034,18322397,18281420,18274205,18260892,18241625,18236737,18219093,18164014,18154731,18096166,18083534,18034366,18029348,18000171,17977159,17975119,17949258,17936978,17936934,17936248,17920578,17900266,17854416,17716225,17702780,17664137,17662690,17651311,17646900,17624629,17624354,17623520,17617032,17617030,17592556,17587252,17585031,17568951,17560461,17558807,17556053,17554394,17539292,17536768,17532308,17532162,17469180,17463067,17460182,17449559,17437735,17436311,17436100,17435182,17428620,17416287,19371607,19371602,19359600,19357718,19330810,19321847,19301736,19292048,19288455,19285487,19280995,19269283,19263529,19261989,19254215,19233152,19233151,19226538,19223938,19219535,19205543,19204840,19155603,19152805,19151417,19135476,19131662,19126404,19104460,19090870,19082953,19071155,19056482,19048631,19023099,19022366,19019335,19018779,19018234,19015224,19013297,19005291,19003935,18996102,18977341,18976644,18971955,18952040,18951406,18936436,18930907,18927546,18923238,18845659,18830194,18823627,18818748,18796237,18728123,18720901,18716378,18708400,18695162,18678600,18665040,18652773,18635682,18634772,18626964,18624774,18618303,18615156,18601602,18582459,18569577,18550589,18544231,18513389,18505467,18500687,18497471,18474147,18469206,18465683,18443916,18433845,18430447,18430057,18427977,18423402,18413200,18385941,18361900,18355454,18349088,18347314,16940704,16926679,16919539,16915393,16914770,16912512,16882531,16880229,16863614,16835048,16824336,16822965,16808888,16807370,16799134,16794478,16792468,16790239,16780669,16776637,16775186,16767666,16766384,16729301,16683402,16681435,16674912,16629699,16627808,1673382,16600468,16565923,16551349,16534235,16521945,16515855,16510204,16495777,16474172,16472799,16411107,16407304,16387878,16357806,16335952,16327022,16323636,16319130,16308493,16269825,16260097,16239632,16614106,16229851,20470383,15098021,18830558,19103284,19121386,19201174,19207863,19439227,19443958,19474728,19538950,19556304,19578796,19628957,19654933,19672401,19710913,19729601,19736056,19750105,19770524,19778663,19818126,19826962,19846948,19850020,19863653,19878569,19880629,19891963,19902425,19902814,19904013,19907334,19915520,19930448,19939821,19948975,19956635,19967651,20019917,20026099,20042177,20045427,20050883,20056567,20078196,20078877,20097953,20098041,20099504,20142115,20185366,20198589,20209647,20227257,20227490,20334584,20348046,20362697,20375196,20379614,20381198,20390392,20403997,20406466,20407783,20423481,20424303,20430392,20452482,20453000,20458436,20458968,20488557,20532959,11238489,20802378,20819778,20833162,20839225,20855565,20856122,20883119,20921272,20947215,20980077,21031563,21039385,21044781,21078685,20100610,20338154,20692246,20709049,20872564,21111108,20140262,20812194 1642617,1642618,1642628,2313268,2313270,2313273,2307252,1580196,1580197,1580198,1580199,1580200,1580201,1580202,1580203,1580204,1580227,2313266,2313267,2313269,2313272 5444 NM_000446,NG_008779,AC004022,AF051133,AF402963,AF402965,AF539592,CH236949,CH471091,L48710,S56555,S64696,U55877,U55885,AK314027,AV652982,BC074719,BJ993711,CB122285,D84371,M63012,M63013,M63014,S64615,U53784,Z70723 NP_000437,AAC35293,AAD02576,AAL04502,AAL04504,AAM97935,EAL24133,EAW76771,AAB25717,AAB27899,AAB41835,BAG36737,AAH74719,BAA12327,AAB59538,AAA60142,AAA60143,AAB27714,AAA97957,CAA94728,P27169,Q96P89,Q96P91 Hs.370995 ESA|MVCD5|PON A-esterase 1|K-45|PON 1|aromatic esterase 1|arylesterase B-type|esterase A|paraoxonase B-type|serum aryldiakylphosphatase|serum aryldialkylphosphatase 1|serum paraoxonase/arylesterase 1 1643388,1643401 BW321_H,BMD1_H protein-coding 1320575 PON2 paraoxonase 2 This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580216,1580217,1580218,1580219,1642614,1642625,2313490,2313491,2313492,1580863 19913121,20485444,20503442,20529763,20536507,20565774,20628086,8661009,15772423,19527514,19479237,19401157,19371607,19263529,19254215,19166692,19152805,19151417,19131662,19091699,19082953,19019335,18977341,18977241,18818748,18776646,18759523,18720901,18695162,18691157,18635682,18569577,18513389,18436804,18427977,18413200,18361900,18347034,18258817,18063859,18020951,17940058,17916643,17854416,17664137,17601350,17557249,17436100,17428620,17412306,17406108,17404154,17309646,17299970,17137217,17096118,16926679,16891303,16822965,16822964,16776623,16767666,16614106,16551349,16411107,16319130,16185677,16164576,16141008,16135439,16117861,16080611,16078734,16030523,15776585,15607899,15544923,15489334,15359538,15345661,15256524,15232408,15166781,15039125,15001326,14996478,14984433,14741412,14636952,12955589,20582942,20839225,20980077,12939804,12853948,12778447,12588779,12561466,12477932,12454802,12442067,12433026,12151850,12082592,11918623,11803456,11768721,11692002,11676977,11579088,11512679,11257265,11206400,9847074,9714608,9443862,9329371,17353931,16537434,19497963,19540141,19546579,19575027,19578796,19587357,19654933,19818126,19840942,19878569,19930448,19939821,19948975,20099504,20430392,20458436,20530481 1580216,1580217,1580218,1580219,1642614,1642625,2313490,2313491,2313492 5445 CR625587,L48513,NM_000305,NM_001018161,NG_008725,AC004012,AC005021,AF001603,AY210982,CH236949,CH471091,AB102891,AF001601,AF001602,AK291103,AK296029,AK296636,AK301313,AK308065,AK315209,BC009728,BC040010,BC046160,BC093006,CB961097,CR594670,CR597620,CR598929,CR599247,CR601053,CR603256,CR603589,CR603708,CR608153,CR616165,CR616262,CR621343,CR621526,CR622708,CR622962,CR624060 AAC41995,Q15165,Q5FBX7,Q6PJZ2,Q86X69,NP_000296,NP_001018171,AAC62431,AAC27946,AAO18083,EAL24131,EAW76763,EAW76764,EAW76765,EAW76766,EAW76767,BAD89420,AAC27944,AAC27945,BAF83792,BAG58797,BAG59238,BAG62864,BAG37646,AAH09728,AAH40010,AAH46160 Hs.727553 A-esterase 2|OTTHUMP00000204705|PON 2|aromatic esterase 2|paraoxonase nirs|serum aryldialkylphosphatase 2|serum paraoxonase/arylesterase 2 1643388 BW321_H protein-coding 1344009 PON3 paraoxonase 3 This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq] 1580863 19913121,20485444,20529763,20628086,8661009,15772423,19401157,19082953,18977341,18695162,18347034,17900266,17702780,17664137,17412306,17379834,16822964,16621408,16551349,16335952,16319130,16139510,16117861,16099434,16078734,15993332,15607899,15489334,15028279,14996478,14757195,14702039,14695884,14636952,12853948,12690205,12588779,12477932,12151850,11752456,11304470,20463093,20582942,11304457,19345057,19492856,19540141,19948975,20403997,20430392,20839225,20855565,20980077,17207965 5446 NM_000940,NG_008726,AC004022,AC005021,AY805220,CH236949,CH471091,AA860930,AF320003,AF329433,AK096114,AK304282,AV655538,BC020908,BC070374,CD014095,CD014097,CD014100,CD014102,L48516,HH961856 NP_000931,AAV50000,EAL24132,EAW76768,AAK07629,AAO15365,BAG65142,AAH70374,AAC41996,Q15166,CBX51401,ADQ32083 Hs.440967 OTTHUMP00000205061|OTTHUMP00000205065|paraoxanase-3|serum paraoxonase/lactonase 3 protein-coding 1318482 POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 17178784,20453000,15096576,8918471,16723659,15635413,15342556,15302935,12483731,12477932,11790298,11694598,11455963,10199568,9725903,9405234,7584044 10940 NM_015029,NM_001145860,NM_001145861,AP003439,CH471060,AK000837,AK291434,BC011529,BF511088,BP249298,BP280616,CR620435,D31765,X99302 NP_055844,NP_001139332,NP_001139333,EAW91776,BAF84123,AAH11529,BAA06543,CAA67684,Q96F88,Q99575 Hs.252828 KIAA0061|MGC17365 hPOP1|processing of precursors 1|ribonucleases P/MRP protein subunit POP1 protein-coding 1314291 POP4 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 15489334,15351636,15342556,14580343,12477932,11455963,10024167,8889548,10352175,15096576,16723659,16155184,15635413 10775 NM_006627,NR_027368,AC010505,AF001176,AK303791,AK314790,BC004438,BC006098,BC013686,BP245167,BU727144,CR536569,CR620341,CR624820,CR936714,Y18863 NP_006618,AAD00893,BAG64748,BAG37321,AAH04438,AAH06098,CAG38806,CAB39167,O95707,ABM83983,ABM87306 Hs.412870 RPP29 hPOP4|ribonuclease P protein subunit p29 protein-coding 1323474 POP5 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 15096576,18164267,17081983,15489334,12477932,11413139,11042152,10931946,10352175,9373149,8125298 51367 NM_198202,NM_015918,AC063943,CH471054,AA918619,AF070660,AF117232,AJ306296,AK223206,AK303144,BC012505,BI549018,BI668578,BU155588,CB995722,CR625634 NP_937845,NP_057002,EAW98205,EAW98206,EAW98207,EAW98208,AAD20966,AAF17213,CAC59822,BAD96926,BAG64248,AAH12505,Q969H6 Hs.279913 HSPC004|RPP2|RPP20|hPop5 RNase MRP/RNase P protein-like|ribonuclease P/MRP protein subunit POP5 protein-coding 1315010 POP7 processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) 1580863 14715275,15096576,9630247,15635413,15489334,12690205,12477932,11158571,9618478,20215441 10248 NM_005837,AC009488,CH236956,CH471091,AJ572668,BC001430,BI666854,CR601550,CR608046,CR608631,U94316 NP_005828,EAL23821,EAW76495,AAH01430,AAC24113,O75817 Hs.416994 0610037N12Rik|RPP2|RPP20 OTTHUMP00000211373|POP7 (processing of precursor, S. cerevisiae) homolog|RNaseP protein p20|hPOP7|processing of precursor 7, ribonuclease P subunit|processing of precursor 7, ribonuclease p subunit (s. cerevisiae)|ribonuclease P protein subunit p20|ribonucleases P/MRP protein subunit POP7 homolog protein-coding 1352577 POPDC2 popeye domain containing 2 This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq] 1302855,1580863 10882522,15489334,9373149,8125298,17207965,12477932 1302855 64091 NM_022135,AC023494,AC073352,AF204173,AK226022,AK314819,BC026911,BC044929 ADQ33129,NP_071418,AAG23406,AAH26911,AAH44929,Q9HBU9 Hs.656031 POP2 OTTHUMP00000215338|OTTHUMP00000215550|popeye domain-containing protein 2|popeye protein 2 protein-coding 1343916 POPDC3 popeye domain containing 3 This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq] 1302855 19913121,20546612,20628086,19448622,10882522,18391951,15489334,14574404,12477932,9373149,8125298,17207965,20627872 1302855 64208 NM_022361,NR_024539,AL356775,AL359709,CH471051,AF204171,AK225989,AK314101,BC022323,BF244570,CA433204,CR591052 NP_071756,CAI13615,CAI13616,CAI13617,CAI17218,CAI17219,EAW48427,EAW48428,AAG23404,BAG36795,AAH22323,Q9HBV1,ADQ32144 Hs.458336 MGC22671|POP3|RP11-99L11.2|bA355M14.1 popeye domain-containing protein 3|popeye protein 3 protein-coding 68468 POR P450 (cytochrome) oxidoreductase This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq] 1580863,1599697,1625563,2325883,4889128,4889811 2513880,10048323,19374516,19258400,19161969,18681889,18630181,18559916,18551037,18397975,18259105,18230729,18216718,17881660,17827787,17635179,17595315,20732302,20844025,20849814,20879989,11329262,11181502,11123926,11118675,11035953,10990198,10448278,9888582,9847074,9787138,9642268,9398194,9335117,8812989,8615895,8460938,7703255,2516426,1550342,17580970,17505056,17440066,17018578,16998238,16574318,16520232,16467261,16445284,16434211,16344560,15793702,15666840,15489334,15483095,15342556,15264278,15220035,14999778,14758361,12901793,12787027,12782579,12725870,12688675,12626517,12477932,11971899,11926825,11716457,11350900,11329263,19913121,20628086,16169070,19448135,19598235,19744540,19805543,19837910,19858215,19884324,20096935,21084761 1599697,1625563,2325883,4889128,4889811 5447 NG_008930,AC005067,AC006330,CH471220,DQ640499,AB051763,AB209874,AF258341,AK129978,AK290529,NM_000941,BP244929,BX648619,CR590488,CR597060,CR604362,CR604872,CR610590,CR613407,DA701694,S90469,AK293194,AK296096,AK296639,AK304511,AK312543,BC034277,BG104767 NP_000932,AAD45961,EAW71777,EAW71778,EAW71779,EAW71780,ABF70199,BAB18572,BAD93111,AAG09798,BAF83218,CAH56151,AAB21814,P16435,Q59ED7,Q63HL4,BAG56734,BAG58850,BAG59240,BAG65317,BAG35442,AAH34277 Hs.354056 CPR|CYPOR|DKFZp686G04235|FLJ26468|P450R NADPH--cytochrome P450 reductase|NADPH-dependent cytochrome P450 reductase|OTTHUMP00000160964|OTTHUMP00000185560|OTTHUMP00000210071 protein-coding 1343900 PORC porphyria, acute; Chester type 2864531,8340112 5448 1603972 PORCN porcupine homolog (Drosophila) This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the Porc family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 18325042,18193088,17546031,17546030,15489334,14702039,12477932,12034504,10866835,19277062,19309688,19586929,19681149,19863546,20198348 64840 NM_022825,NM_203475,NM_203474,NG_009278,CH471224,AF317058,AF317059,AF317060,AF317061,AK056340,AK057727,AK293347,AK314745,AL538245,BC019080,BM543485,BM545893,CR623014,L08239,NM_203473,AK316378 NP_982299,NP_073736,NP_982301,NP_982300,EAW50777,EAW50778,EAW50779,EAW50780,EAW50781,AAG39628,AAG39629,AAG39630,AAG39631,BAG51958,BAG56863,BAG37285,AAH19080,AAA74510,Q9H237,ABM83558,ABM86795,BAH14749 Hs.386453 DHOF|FODH|MG61|MGC29687|PORC|PPN|por 2410004O13Rik|OTTHUMP00000025784|probable protein-cysteine N-palmitoyltransferase porcupine protein-coding 1313223 POSTN periostin, osteoblast specific factor 1580863 19913121,20628086,20654574,20660732,12235007,8363580,19453261,19419450,19328625,19321256,19079190,19038863,18949745,18799196,18753297,18487994,18465194,18450759,18443362,18434370,18381746,18270434,18208976,18097555,18086302,17876898,17060937,17043657,17014703,16807673,16702213,16368877,16335952,16136586,15880581,15342556,15093540,15082792,15057823,14702039,12477932,11550156,20459570,20534149,20688362,17649947,18560459,19141349,19478074,19524268,19578758,19619531,19695571,19834535,19887451,19893021,19932262,20056178,20096135,20112500,20516120,19688273,20489157 10631 AY140646,AY918092,BC106709,BC106710,BG938993,BP335818,BQ575951,BY795054,D13665,D13666,DC403736,EU262883,EU262884,EU262885,EU262886,AK304640,NM_001135934,NM_001135936,NM_001135935,NM_006475,AL138679,AL646087,CH471075,AI580215,AK021444,AK300261,GU354210 ABY86633,Q15063,BAG65419,AAN17733,AAY15840,AAI06710,AAI06711,BAA02836,BAA02837,ABY86630,ABY86631,ABY86632,NP_001129406,NP_001129408,NP_001129407,NP_006466,CAH70104,CAH70105,CAH70106,CAH70107,CAH73568,CAH73569,CAH73570,CAH73571,EAX08590,EAX08591,EAX08592,EAX08593,EAX08594,BAH13247,ADA79517 Hs.136348,Hs.721018 MGC119510|MGC119511|OSF-2|OSF2|PDLPOSTN|PN|RP11-412K4.1|periostin osteoblast specific factor 2 (fasciclin I-like)|osteoblast-specific factor 2|periodontal ligament-specific periostin|periostin|periostin isoform thy2|periostin isoform thy4|periostin isoform thy6|periostin isoform thy8 protein-coding 1344340 POT1 POT1 protection of telomeres 1 homolog (S. pombe) This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 16030011,12768206,15632080,15181449,16043710,17237768,12781132,17632522,15657433,16880378,16166375,19424630,19285750,19262689,18955498,18922974,18676680,18519588,18425352,18178559,18066078,17848914,17237767,16344560,15973431,15792951,15620654,15558049,15489334,15231715,15060173,14744765,14715659,14702039,12853948,12477932,12391173,11349150,8889548,16189514,20937264,21048031,20811636,19170196,19625176,19648609,19651898,19692168,19734539,19766477,19773453,19812417,19854130,20008939,20056641,20094033,20549820 25913 NM_001042594,NR_003103,NM_015450,NR_003104,NR_003102,AC004925,AC096665,AC110791,CH236947,CH471070,AK001230,AK001935,AK022580,AK026234,AK302263,AL050120,AY823520,AY823521,AY823522,AY823523,AY823524,BC002923,BM693856,CR605349,DA412639,DA580630,DA707481 NP_001036059,NP_056265,AAD08852,EAW83615,EAW83616,EAW83617,BAA91568,BAA91988,BAB14110,BAB15404,BAH13661,CAB43281,AAW22613,AAW22614,AAW22615,AAW22616,AAW22617,AAH02923,Q5MJ32,Q5MJ33,Q5MJ34,Q5MJ35,Q9NUX5,ABM83691,ABM87009 Hs.31968 DKFZp586D211|HPOT1 OTTHUMP00000211676|POT1 protection of telomeres 1 homolog|POT1-like telomere end-binding protein|protection of telomeres protein 1 protein-coding 1603854 POTEA POTE ankyrin domain family, member A 15276201,12475935,16364570 340441 NM_001005365,AC022616,AY462869,AY462870,NM_001002920 NP_001005365,NP_001002920,AAS58863,AAS58864,Q6S8J7,AAI48509,AAI53077 Hs.531579 A26A1|CT104.3|POTE-8|POTE8 ANKRD26-like family A member 1|ANKRD26-like family A, member 1|POTE ankyrin domain family member A|cancer/testis antigen family 104, member 3|prostate, ovary, testis-expressed protein on chromosome 8|protein expressed in prostate, ovary, testis, and placenta 8 protein-coding 1604173 POTEB POTE ankyrin domain family, member B 12477932,12475935,19718026,15489334,15276201,20379614 339010 NM_207355,AC060814,AC183089,AY465170,AY465173,BC066981,BC101005,BC101006,BC101007,BC127123 NP_997238,AAS58869,AAS58872,AAH66981,AAI01006,AAI01007,AAI01008,AAI27124,Q495V5,Q495V6,Q495V7,Q6S5H4 Hs.442712,Hs.722659 A26B1|CT104.5|MGC119371|MGC119373|POTE-15|POTE15 ANKRD26-like family B member 1|ANKRD26-like family B, member 1|POTE ankyrin domain family member B|cancer/testis antigen family 104, member 5|prostate, ovary, testis-expressed protein on chromosome 15|protein expressed in prostate, ovary, testis, and placenta 15 protein-coding 2291751 POTEC POTE ankyrin domain family, member C 12475935,12477932 388468 NM_001137671,AP006261,AK307658,BC140940,BX649118 NP_001131143,AAI40941,B2RU33 Hs.454726 A26B2|CT104.6|DKFZp686J0529|POTE-18|POTE18 ANKRD26-like family B member 2|ANKRD26-like family B, member 2|OTTHUMP00000222973|POTE ankyrin domain family member C|cancer/testis antigen family 104, member 6|prostate, ovary, testis-expressed protein on chromosome 18 protein-coding 1353593 POTED POTE ankyrin domain family, member D 1580863 17996727,16364570,15276201,12475935,10830953 317754 NM_174981,AP001465,AY172978 NP_778146,AAO23914,Q86YR6,AAI66701 Hs.442712 A26B3|ANKRD21|CT104.1|POTE|POTE-21|POTE21 ANKRD26-like family B member 3|ANKRD26-like family B, member 3|Expressed in prostate, ovary, testis, and placenta|POTE ankyrin domain family member D|ankyrin repeat domain 21|ankyrin repeat domain-containing protein 21|cancer/testis antigen family 104, member 1|prostate, ovary, testis-expressed protein protein-coding 1604415 POTEE POTE ankyrin domain family, member E 18447647,17101985,16824795,16364570,15276201,19669888 445582 HM358964,HM358975,NM_001083538,AC131180,AY970426,AY970462,AY462868,AY462871,AY462872,AY462873 NP_001077007,AAX82235,AAX82269,AAS58862,AAS58865,AAS58866,AAS58867,Q562Q2,Q562T6,Q6S8J3 Hs.686146 A26C1|A26C1A|CT104.2|POTE-2|POTE2|POTE2gamma ANKRD26-like family C member 1A|ANKRD26-like family C, member 1A|POTE ankyrin domain family member E|cancer/testis antigen family 104, member 2|prostate, ovary, testis-expressed protein on chromosome 2|protein expressed in prostate, ovary, testis, and placenta 2 protein-coding 2289881 POTEF POTE ankyrin domain family, member F 17101985,16824795,15815621,19669888 728378 NM_001099771,AC018804,AC018865,AY970461,EF523384,HM358933,HM358938,HM358957,HM358969 NP_001093241,AAX82268,ABP57734,A5A3E0,Q562Q3 Hs.580547 A26C1B|POTE2alpha|POTEACTIN ANKRD26-like family C member 1B|ANKRD26-like family C, member 1B|OTTHUMP00000204218|POTE ankyrin domain family member F|POTE-2 alpha-actin|chimeric POTE-actin protein|prostate, ovary, testis expressed protein on chromosome 2 protein-coding 1605777 POTEG POTE ankyrin domain family, member G 16824795,15276201,12477932,10737800 404785 NM_001005356,NR_027480,AL512624,AY462874,AY465171,AY465172,BC127623,CV341500 NP_001005356,AAS58868,AAS58870,AAS58871,AAI27624,Q6S5H5,AAI56490,AAI72559 Hs.711826 A26C2|ACTBL1|CT104.4|POTE-14|POTE14|POTE14alpha|POTE22 ANKRD26-like family C member 2|ANKRD26-like family C, member 2|POTE ankyrin domain family member G|cancer/testis antigen family 104, member 4|prostate, ovary, testis-expressed protein on chromosome 14|protein expressed in prostate, ovary, testis, and placenta 14 protein-coding 1346397 POTEH POTE ankyrin domain family, member H 15276201,12475935,10591208 23784 NM_001136213,AP000529,CR545463,AY466021 NP_001129685,AAS58873,Q6S545,AAI48506,AAI48759 Hs.581075 A26C3|ACTBL1|CT104.7|POTE22 ANKRD26-like family C member 3|ANKRD26-like family C, member 3|POTE ankyrin domain family member H|POTE-22|actin, beta-like 1|cancer/testis antigen family 104, member 7|prostate, ovary, testis-expressed protein on chromosome 22|protein expressed in prostate, ovary, testis, and placenta 22|protein expressed in prostate, ovary, testis, and placenta POTE14 like protein-coding 3077730 POTEI POTE ankyrin domain family, member I 15815621,16824795,16364570 653269 AC013269,AY970385,AY970392,XM_928585,HM358987 P0CG38,AAX82194,AAX82201,Q562X0,Q562X7,XP_933678 POTE2beta POTE ankyrin domain family member I|POTE ankyrin domain family, member I protein-coding 2947058 POTEJ POTE ankyrin domain family, member J 16364570,16824795,15815621 653781 HM358950,HM358962,HM358992,HM358994,AC140481,AY970427,XM_929706 AAX82236,Q562T5,XP_934799,P0CG39 POTE2beta' OTTHUMP00000204945|POTE ankyrin domain family member J|POTE ankyrin domain family, member J protein-coding 1606361 POTEK POTE ankyrin domain family, member K 14630798,16341674,6457647,16824795,16364570 440915 HM358967,HM358970,HM358980,HM358985,HM358990,BM763453,NR_033885,AC093838,AY970463,AY970464,AY014272 AAX82270,AAX82271,AAG50355,Q562Q0,Q562Q1,Q9BYX7 Hs.727285 ACT|ACTBL3|FKSG30|POTE2delta|POTEK putative beta-actin-like protein 3 pseudo 3378638 POTEM POTE ankyrin domain family, member M 12477932,12508121,16364570,16824795 641455 HM358945,HM358955,HM358968,HM358973,HM358979,HM358983,HM358995,AL589182,AL929601,AY338952,AY970378,AY970386,AY970387,AY970388,AY970389,AY970390,AY970391,AY970428,AY970430,AY970431,AY970432,AY970446,AY970447,AY970454,AY970455,AY970456,AY970457,AY970458,AY970460,AY970479,AY970480,AY970502,BC063888,NM_001145442 A6NI47,AAX82187,AAX82195,AAX82196,AAX82197,AAX82198,AAX82199,AAX82200,AAX82237,AAX82239,AAX82240,AAX82241,AAX82255,AAX82256,AAX82261,AAX82262,AAX82263,AAX82264,AAX82265,AAX82267,AAX82285,AAX82286,AAX82308,NP_001138914,Q562N6,Q562Q4,Q562Q6,Q562Q8,Q562Q9,Q562R0,Q562R5,Q562R6,Q562T0,Q562T4,Q562X1,Q562X2,Q562X4,Q562X6,Q562Y4 Hs.654289 ACT|P704P|POTE14beta ANKRD26-like family C member ENSP00000349402|actin-like|prostate-specific P704P|putative POTE ankyrin domain family member M protein-coding 732450 POU1F1 POU class 1 homeobox 1 This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1601432,1580863 16133148,16061841,16030140,15998782,15928241,15031321,14714741,14646405,12932747,12773133,12717343,12629113,12242337,12223489,12200420,12189206,12165656,11924936,11891224,11847467,11297581,11222742,10549299,10367888,9751061,9639565,9626142,9588494,9485179,9426156,9032233,8768831,8755540,8663380,8458380,8370519,8346040,8027225,7833912,7721104,7670563,7608249,7593413,3215510,2902927,2739723,1956794,1509263,1509262,1472057,1370379,1302000,1487156,9392392,9482665,18653712,18514160,18059085,17565274,17456792,17047377,17021049,16901973,16879162,16740974,16505001,16322098,16263824,16214911,19808898,20734064,20810604,20381582,20634197,19369455,19453261,19556346,19608642,19887646,20453000,20534763,16396960,21060149,19427323,19609847,20395397 1601432 5449 NM_000306,NM_001122757,NG_008225,AC130885,CH471110,D11333,D11334,D12892,X77223,X77224,D10216,L18781,S73501,X62429,X72215 NP_000297,NP_001116229,EAW68866,EAW68867,BAA34536,BAA02291,CAA54441,BAA01068,AAA60093,AAB31227,CAA44295,CAA51017,P28069,Q16223,AAI52852 Hs.591654 CPHD1|GHF-1|PIT1|POU1F1a|Pit-1 POU domain, class 1, transcription factor 1|growth hormone factor 1|pituitary-specific positive transcription factor 1|pituitary-specific transcription factor 1|pou domain, class 1, transcription factor 1 protein-coding 1323347 POU2AF1 POU class 2 associating factor 1 1580863 16713566,7859290,18753146,17785371,16934875,15796964,15672409,15489334,14662861,14552839,14515270,12727885,12672812,12477932,12230975,11907094,11483518,11483517,11380252,11136971,10541551,9819426,9632764,9442392,9211847,8617501,8574789,7779176,7623806,20102401,20141429,19913121,20628086,20659471,18695675,9418884 5450 AAB34937 HI574300,AP002451,CH471065,AK313573,BC032549,CR599556,X83504,Z47550,Z49194,NM_006235 CBX47639,NP_006226,EAW67137,BAG36346,AAH32549,CAA58494,CAA87630,CAA89053,AAB34937,Q16633,ABM81795,ABW03292 Hs.654525 BOB1|OBF-1|OBF1|OCAB B-cell-specific coactivator OBF-1|BOB-1|OCA-B|OCT-binding factor 1|POU domain class 2-associating factor 1|POU domain, class 2, associating factor 1 protein-coding 1344654 POU2F1 POU class 2 homeobox 1 1580863 10629049,12670868,7945330,9242494,2341156,11891224,19422935,19240061,19174780,19171782,19118657,19070619,19064610,19058140,18940312,18772384,18682386,18634911,18599544,18550719,18390905,18083338,18030470,17442950,17316622,17273778,17192276,16710414,16360016,16301215,16186125,16116232,16002402,15831936,15817654,15786443,15613485,8479524,8462099,8454622,8202368,8156594,7842742,7720710,7663141,7642649,2905684,1887216,7690421,15207707,12393188,11279128,10976766,11583619,10541551,11096094,8314572,20211142,20713004,20886065,21059098,16344560,17213819,15489334,15302935,15138251,15105429,14702039,14645506,14612514,14586402,14559893,14522952,12923055,12887926,12887915,12853155,12727885,12672812,12669425,12663137,12598320,12477932,12446597,12391146,12144930,12019209,11997177,11856838,11777930,11380252,11134019,10779377,10490647,10480874,10383413,9889203,9584182,9537509,9418884,9368058,8668525,11056176,1684878,19327156,19359385,19463811,19467240,19536175,19617623,19804407,19898263,19965638,20215511,20237496,20379614,9525610 5451 NM_002697,AL136984,AL451050,CH471067,AK091438,AK302525,AK303201,AK308004,AY113189,BC001664,BC003571,BC007388,BC052274,X13403,AK124826,BC037864,BX954888,DA937884,DC370634,NM_001198783,NM_001198786,NR_037163 NP_002688,CAI15167,CAI15168,CAI15169,CAI15170,CAI15171,EAW90786,EAW90787,EAW90788,BAG52361,BAG63798,BAG64291,AAM77920,AAH01664,AAH03571,AAH07388,AAH52274,CAA31767,P14859,NP_001185712,NP_001185715 Hs.493649,Hs.283402 FLJ42836|OCT1|OTF1 NF-A1|OTF-1|OTTHUMP00000032348|OTTHUMP00000032350|OTTHUMP00000032351|Octamer-binding transcription factor-1|POU domain, class 2, transcription factor 1|oct-1|octamer-binding protein 1|octamer-binding transcription factor 1 protein-coding 1347223 POU2F2 POU class 2 homeobox 2 1580863 19913121,20628086,11841448,11583619,11279128,10490647,10480874,9870616,9819426,9584182,9368058,9078256,8902060,8202368,8156594,7914745,7888080,7720710,3265124,2904654,2904653,2901913,2328728,10383413,12887926,12477932,12144930,9242494,9442393,19270158,18695675,17442950,16186795,15831936,15796964,15489334,14707079,14662861,12663137,20141429,19271143,19536068,19625999,20363215 5452 X53469,NM_002698,AC010247,AC022515,AC024076,CH471126,X81030,BC006101,BT007438,CB995118,CR594168,CR604513,CR615602,M22596,M36542,M36653,M36718,M36772,X13809,X13810,X53468 CAA37562,CAA37565,P09086,Q16624,Q9UMI6,Q9UMJ4,CAA37563,NP_002689,EAW57098,EAW57099,EAW57100,EAW57101,EAW57102,EAW57103,EAW57104,EAW57105,EAW57106,EAW57107,CAA56933,AAH06101,AAP36106,AAA64232,AAA36732,AAA36389,AAA36390,AAA59978,AAA36392,CAA32039,CAA32040 Hs.654420 OCT2|OTF2|Oct-2 OTF-2|POU domain, class 2, transcription factor 2|homeobox protein|lymphoid-restricted immunoglobulin octamer-binding protein NF-A2|octamer-binding protein 2|octamer-binding transcription factor 2 protein-coding 1351293 POU2F3 POU class 2 homeobox 3 1580863 9242494,15077167,17195013,16607278,16005513,10473598,18479461,17989732,14702039,12624109,12477932,11429405,8441607,18029348,20888799,14645924,20379614 25833 NM_014352,AP000679,AP001150,CH471065,AF133895,AF162278,AJ012214,AK097382,AK291993,AK302212,BC101649,BC143593,BC143594,BC143595,CR593728 NP_055167,EAW67503,AAD55245,AAF00199,CAB45383,BAF84682,BAG63569,AAI01650,Q9UKI9,ABZ92227 Hs.227115 Epoc-1|FLJ40063|MGC126698|OCT11|PLA-1|Skn-1a OTF-11|POU domain, class 2, transcription factor 3|POU transcription factor|oct-11|octamer-binding protein 11|octamer-binding transcription factor 11|transcription factor PLA-1|transcription factor Skn-1 protein-coding 730819 POU3F1 POU class 3 homeobox 1 1580863 20453842,9242494,8451175,8662541,17959798,17195013,12557005,9742157,9457692,9105675,8663425,8567814,7909356,7791781,7720710,1976514,1975954 5453 AL139158,CH471059,CR611990,L26494,S81257,NM_002699 CAI23136,EAX07298,AAA59965,AAB35991,Q03052,Q16423,AAI56295,NP_002690 Hs.1837 OCT6|OTF6|SCIP OTF-6|POU domain transcription factor SCIP|POU domain, class 3, transcription factor 1|octamer-binding protein 6|octamer-binding transcription factor 6 protein-coding 1351786 POU3F2 POU class 3 homeobox 2 POU3F2 belongs to a large family of transcription factors that bind to the octameric DNA sequence ATGCAAAT. Most of these proteins share a highly homologous region, referred to as the POU domain, that occurs in several mammalian transcription factors, including the octamer-binding proteins Oct1 (POU2F1; MIM 164175) and Oct2 (POU2F2; MIM 164176) and the pituitary protein Pit1 (PIT1; MIM 173110). Class III POU genes are expressed predominantly in the central nervous system (CNS). It is likely that CNS-specific transcription factors such as these play an important role in mammalian neurogenesis by regulating their diverse patterns of gene expression (Schreiber et al., 1993 [PubMed 8441633]; Atanasoski et al., 1995 [PubMed 7601453]).[supplied by OMIM] 1580863 20337985,18996486,18923447,18829533,17163992,16858508,15489334,15024080,14702039,14574404,12782656,12477932,10332029,9632656,9178889,8441633,7651733,7478537,2739723,2216722,1565620,9105675,11029584,7601453,9482665,15024079,19023125 5454 Z11933,NM_005604,AL022395,CH471051,L37868,AK095588,BC051699,BQ423615,BU183021 CAA77990,P20265,NP_005595,CAB37982,EAW48491,AAB59611,BAG53090,AAH51699 Hs.182505 BRN2|OCT7|OTF7|POUF3 OTF-7|POU domain, class 3, transcription factor 2|brain-2|brain-specific homeobox/POU domain protein 2|brn-2|nervous system-specific octamer-binding transcription factor N-Oct-3|oct-7|octamer-binding protein 7|octamer-binding transcription factor 7 protein-coding 1349087 POU3F3 POU class 3 homeobox 3 POU3F3 is a member of the class III POU family of transcription factors (see POU3F1; MIM 602479) that are expressed in the central nervous system. The POU domain in these proteins is required for high affinity binding to octamer DNA sequences Sumiyama et al. (1996) [PubMed 8703082].[supplied by OMIM] 1580863 8703082,16582099,9632656,9457692,9105675,2739723,16169070 5455 NM_006236,AB001835,AC018730,CH471127 NP_006227,BAA19459,AAX88973,EAX01771,P20264,AAI68366 Hs.673855 BRN1|OTF8 OTF-8|POU domain, class 3, transcription factor 3|brain-1|brain-specific homeobox/POU domain protein 1|brn-1|oct-8|octamer-binding protein 8|octamer-binding transcription factor 8 protein-coding 732459 POU3F4 POU class 3 homeobox 4 This gene encodes a member of the POU-III class of neural transcription factors. This gene may play a role in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations have been associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq] 1580863,1599155,1599156 7839145,15772651,12062767,9889200,9778298,9667433,9298820,9105675,7911044,7581392,19438930,19671658,19930154,20668882 1599155,1599156 5456 NM_000307,NG_009936,CH471104,Z82170,AK314967,X82324 NP_000298,EAW98577,CAI42602,BAG37468,CAA57767,P49335,AAI41562,AAI46552 Hs.2229 BRAIN-4|BRN4|DFN3|DFNX2|OTF9 OTF-9|POU domain, class 3, transcription factor 4|brain-specific homeobox/POU domain protein 4|brn-4|oct-9|octamer-binding protein 9|octamer-binding transcription factor 9 protein-coding 1346307 POU4F1 POU class 4 homeobox 1 BRN3A (POU4F1) is a class IV POU domain-containing transcription factor highly expressed in the developing sensory nervous system and in cells of the B- and T-lymphocytic lineages (Gerrero et al., 1993 [PubMed 8248179]).[supplied by OMIM] 1580863 8995448,16276351,16247485,15272315,15021903,12934100,12911730,12893201,12810599,12477932,12441296,12432261,12427558,9448000,8941380,8889548,8248179,8234287,7623109,1357630,20376082,20348952,21116278 5457 NM_006237,AL445209,CH471093,U10063,BM714015,BM726529,L20433,N74107,X64624 NP_006228,CAI15184,EAW80584,EAW80585,AAA57161,AAA65605,CAA45907,Q01851,AAI48331,AAI48793 Hs.654522 BRN3A|FLJ13449|Oct-T1|RDC-1 POU domain, class 4, transcription factor 1|brain-3A|brain-specific homeobox/POU domain protein 3A|brn-3A|homeobox/POU domain protein RDC-1 protein-coding 1346191 POU4F2 POU class 4 homeobox 2 POU4F2 is a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. A class IV POU-domain protein, POU4F2 is found in human retina exclusively within a subpopulation of ganglion cells where it may play a role in determining or maintaining the identities of a small subset of visual system neurons.[supplied by OMIM] 1580863 7623109,8995448,18367606,17637757,17490655,16368877,16344560,16152597,15968082,15833836,14970234,14726699,12724837,11526481,9448000,8332509,8234287,7691107,12477932 5458 NM_004575,AC093887,CH471056,AK314982,BC136344,BC136345,BY796838,DB082745,EU439706,L20434,U06233,X71488 NP_004566,EAX05025,BAG37481,AAI36345,AAI36346,ACA49233,AAA36393,AAA16509,CAA50589,Q12837 Hs.266 BRN3.2|BRN3B|Brn-3b Brn3b POU domain transcription factor|POU domain class 4 transcription factor 2|POU domain protein|POU domain, class 4, transcription factor 2|brain-3B|brain-specific homeobox/POU domain protein 3B protein-coding 1321371 POU4F3 POU class 4 homeobox 3 This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq] 1599168,1580863 9506947,7623109,19462854,18347256,18228599,17611044,15489334,15465029,14585957,12477932,12209986,8637595,19372648,20054994,20434433 1599168 5459 NM_002700,NG_011885,AC011396,AF044575,CH471062,U10060,U10061,BC104923,BC112207 NP_002691,AAC06203,EAW61843,EAW61844,EAW61845,EAW61846,AAA57160,AAI04924,AAI12208,Q15319,ABZ92178,ADR82930 Hs.553499 BRN3C|DFNA15|MGC138412 POU domain, class 4, transcription factor 3|brain-3C|brain-specific homeobox/POU domain protein 3C|brn-3C protein-coding 1350605 POU5F1 POU class 5 homeobox 1 2292442,1580863,2292435,2292433,2292428,2292429,2292432,2292431,2292434,2292443 20587610,20458727,20505756,20505821,16557044,17245123,20171362,19060217,20333750,20412569,20462980,20736927,20510497,20818602,21159654,15342930,15513931,15467907,15105401,12923055,12841847,12727846,12653732,12477932,11891324,11689681,11099378,11096094,9368058,8889549,8567814,8500351,8088794,1723621,1408763,18191611,16153702,9814708,18281244,19549847,19445899,19438894,19414369,19409607,19394308,19350677,19347886,19274762,19224238,19171782,19170206,19126554,19103427,19058139,19023518,18985733,18957414,18946985,18810488,18787205,18765667,18710938,18676852,18617685,18612434,18593985,18467432,18440631,18439155,18388306,18366076,18338169,18295396,18269588,18254969,18199879,18157115,18088417,18032701,17959850,17923501,17761754,17682839,17573914,17549357,17525163,17506876,17413979,17409736,17390031,17379765,17314394,17314032,17273778,17226773,17211834,17205510,17136117,17068183,16951404,16916925,16892178,16702430,16582099,16421218,16229821,16149048,15917470,15790780,15749924,15695770,15625129,15615706,20173672,20647538,15729702,17982423,18000303,19102659,19271143,19274063,19327014,19383152,19396148,19458492,19483629,19489092,19559696,19657699,19696409,19718018,19736317,19751112,19777066,19816951,19851445,19966271,19968627,19969351,20034424,20051954,20054811,20074550,20101213,20103622,20139178,20224565,20224970,20230781,20356403,20379614,20404147,20412747,19884257,20477760,18231740,20347080,20698766,20721963,20203285,20805580,21107090 2292442,2292435,2292433,2292428,2292429,2292432,2292431,2292434,2292443 5460 NM_002701,NM_203289,AB088113,AB103619,AB202105,AL662833,AL662844,AL773544,BA000025,BX088580,CH471081,CR388229,CR759815,CR847794,AA205411,AI811039,AM851115,AM851116,AM851117,AM851118,AM851119,AM851120,AM851121,AM851122,AM851123,AM851124,AM851125,AM851126,BC020712,BC069246,BC117435,BC117437,BQ278003,CD247724,DQ486514,DQ486515,DQ486516,DQ486517,EU518650,FM177951,FM177952,FM177953,FM177954,FM177955,FM177956,FM177957,FM177958,FM177959,FM177960,FM177961,FM177962,FM177963,FM177964,FM177965,FM177968,S81255,Z11898,Z11899,GU480808,GU480809,GU480810,GU480811,GU480812,GU480813,GU480815,GU480816,GU480817,GU480818,GU480819,GU480820,GU480821,GU480822,GU480823,GU480824,GU480825,GU480826,GU480827,GU480828,GU480829,GU480830,NM_001173531 NP_002692,NP_976034,BAC54946,BAF31281,BAE78630,CAI17407,CAI17408,CAI18331,CAI18485,CAI18486,BAB63311,CAI18708,CAI18709,EAX03366,EAX03367,EAX03368,CAQ09226,CAQ09227,CAQ07092,CAQ07093,CAQ10780,CAQ10781,CAO99189,CAO99190,CAO99191,CAO99192,CAO99193,CAO99194,CAO99195,CAO99196,CAO99197,CAO99198,CAO99199,CAO99200,AAI17436,AAI17438,ACD14148,CAQ76268,CAQ76269,CAQ76270,CAQ76271,CAQ76272,CAQ76273,CAQ76274,CAQ76275,CAQ76276,CAQ76277,CAQ76278,CAQ76279,CAQ76280,CAQ76281,CAQ76282,CAQ76285,AAB35990,CAA77951,CAA77952,Q01860,ADE48539,ADE48540,ADE48541,ADE48542,ADE48543,ADE48544,ADE48545,ADE48546,ADE48547,ADE48548,ADE48549,ADE48550,ADE48551,ADE48552,ADE48553,ADE48554,ADE48555,ADE48556,ADE48557,ADE48558,ADE48559,NP_001167002,ADR82975,ADR83327 Hs.249184 MGC22487|OCT3|OCT4|OTF-3|OTF3|OTF4|Oct-3|Oct-4 OTTHUMP00000221150|OTTHUMP00000221151|POU domain, class 5, transcription factor 1|POU-type homeodomain-containing DNA-binding protein|octamer-binding protein 3|octamer-binding protein 4|octamer-binding transcription factor 3|octamer-binding transcription factor-3 protein-coding 1346950 POU5F1B POU class 5 homeobox 1B This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq] 1408763,18949397,18946985,16229821,16201836,11780052,17401363,17401366,17618283,17618284,18372901,19562729,20017164,20062064,20158306 5462 NM_001159542,AC016883,DQ120688,Z11901,AF268615,AF268618,DQ486513,FM177969,FM177970,FM177971,FM177972,FM177973,FM177974,FM177975,FM177976,FM177977,FM177978,FM177979,FM177980,FM177981,FM177982,GU480835,GU480840,GU480841,GU480842,GU480845,GU480864,GU480868,GU480878,GU480880,GU480883,GU480886,GU480889,GU480896,GU480902,GU480905,GU480906,GU480908,GU480911,GU480912,GU480913 NP_001153014,ABB92462,CAA77953,AAG53083,AAG53085,ABF29403,Q06416,ADE48561,ADE48566,ADE48567,ADE48568,ADE48570,ADE48580,ADE48583,ADE48591,ADE48593,ADE48596,ADE48597,ADE48599,ADE48604,ADE48606,ADE48609,ADE48610,ADE48612,ADE48614,ADE48615,ADE48616 Hs.450254 OCT4-PG1|OCT4-pg1|OTF3C|OTF3P1|POU5F1P1|POU5F1P4|POU5FLC20|POU5FLC8 POU 5 domain protein|POU class 5 homeobox 1 pseudogene 1|POU domain transcription factor OCT4-pg1|POU domain transcription factor Oct-4|POU domain, class 5, transcription factor 1 pseudogene 1|octamer binding protein 3_like sequence|octamer-binding protein 3-like|octamer-binding transcription factor 3-like|putative POU domain, class 5, transcription factor 1B protein-coding 1625831 POU5F1P2 POU class 5 homeobox 1 pseudogene 2 100009665 NG_006103,AP002851 pseudo 1343632 POU5F1P3 POU class 5 homeobox 1 pseudogene 3 17245123,16229821,8500351,7908264 642559 AC092111,AF268617,Z21964,GU480832,GU480877,GU480888,GU480891,GU480901,NR_036440,GU480838,GU480843,GU480837,GU480846,GU480847,GU480876,GU480887,GU480892,GU480893,GU480897,GU480903,GU480907,GU480909,GU480915 AAG53084,CAA79975,ADE48563,ADE48564,ADE48569,ADE48571,ADE48572,ADE48590,ADE48598,ADE48600,ADE48601,ADE48605,ADE48607,ADE48611,ADE48613,ADE48617 Hs.646545 OTF3L|POU5F1L|POU5FLC12 pou domain, class 5, transcription factor 1-like pseudo 1625853 POU5F1P4 POU class 5 homeobox 1 pseudogene 4 17280643,16229821,7908264 645682 GU480834,GU480836,GU480839,GU480848,GU480852,GU480854,GU480857,GU480859,GU480862,GU480863,GU480866,GU480867,GU480869,GU480870,GU480871,GU480872,GU480873,GU480875,GU480879,GU480881,GU480882,GU480894,GU480895,GU480904,AL139410,AF268613,DQ851566,FM178001,FM178002,FM178003,FM178004,FM178005,FM178006,FM178007,FM178008,FM178009,FM178010,FM178011,FM178012,Z21963,GU480814,GU480831,GU480833,GU480858,NR_034180 ADE48560,ADE48562,ADE48565,ADE48573,ADE48574,ADE48575,ADE48576,ADE48577,ADE48578,ADE48579,ADE48582,ADE48584,ADE48585,ADE48586,ADE48587,ADE48588,ADE48589,ADE48592,ADE48594,ADE48595,ADE48602,ADE48603,ADE48608,ADE48581,AAG53082,CAA79974 Hs.632482 POU5FLC1 pseudo 1625830 POU5F1P5 POU class 5 homeobox 1 pseudogene 5 100009667 NG_006104,AL356741 pseudo 1625829 POU5F1P6 POU class 5 homeobox 1 pseudogene 6 100009668 NG_006105,AC079945 pseudo 1625828 POU5F1P7 POU class 5 homeobox 1 pseudogene 7 100009669 NG_006106,AC117460 pseudo 1606459 POU5F2 POU domain class 5, transcription factor 2 15489334,14702039,12477932,7908264 134187 BX641019,Z21965,NM_153216,AC108102,CH471084,AK098546,BC029532 CAE46012,CAA79976,Q8N7G0,ABZ92379,NP_694948,EAW96016,BAC05328,AAH29532 Hs.678995 DKFZp686P02123|FLJ25680|SPRM-1 POU domain, class 5, transcription factor 2|sperm 1 POU domain transcription factor protein-coding 731653 POU6F1 POU class 6 homeobox 1 1580863 7908264,18323601,16344560,15489334,14702039,12477932,8889548,8567814,8102789,1408763,19450691,19874398,20134265 5463 NR_026893,NM_002702,AC139768,CH471111,AI417271,AK095191,AL832881,AW445212,BC051326,BC074765,BC107090,BM703234,CK002954,DA026332,DA084199,L14482,Z21966 NP_002693,EAW58179,EAW58180,BAG53003,AAH51326,AAH74765,AAI07091,CAA79977,Q14863,Q3B832,ABZ92179 Hs.555886 BRN5|MPOU|TCFB1 POU domain, class 6, transcription factor 1|brain-5|brain-specific homeobox/POU domain protein 5|brn-5|mPOU homeobox protein protein-coding 1322006 POU6F2 POU class 6 homeobox 2 POU6F2 is a member of a gene family characterized by the presence of a bipartite DNA-binding domain, consisting of a POU-specific domain and a POU heterodomain, separated by a variable polylinker. POU domain family members are transcriptional regulators, many of which show highly restricted patterns of expression and are known to control cell type-specific differentiation pathways (see review by Phillips and Luisi, 2000 [PubMed 11183772]).[supplied by OMIM] 1580863 20663923,16217254,17164647,18029348,20201926,20379614,8601806,15459955,12853948,11284034,11183772 11281 NG_016022,NM_001166018,DN991890,NM_007252,AC005483,AC011292,AC073345,AC092174,CH236951,CH471073,U91934,AK309700,U91935 NP_001159490,NP_009183,AAC83404,AAS07475,AAP21873,EAL23992,EAW94116,EAW94117,AAB49727,AAB49728,P78424,AAI52916 Hs.137106 RPF-1|WT5|WTSL OTTHUMP00000198532|POU domain, class 6, transcription factor 2|Wilms tumor suppressor locus|retina-derived POU domain factor 1|retina-derived POU-domain factor-1 protein-coding 1352455 PP1P pyrophosphatase (inorganic) 1 pseudogene 151842 NG_002639,AC104297,AC132807 pseudo 1352864 PPA1 pyrophosphatase (inorganic) 1 The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. 1303939,1580863 10542310,16130169,4130389,17494625,16583711,16236267,16169070,15489334,15164054,12477932,10931946,10733883,10576771,6146563,6120771,6118133,6022858,975879,656444,20206270 1303939 5464 NM_021129,AL731540,CH471083,AB026723,AF092439,AF108211,AF119665,AF154065,AF217186,AK058193,AK127102,AY295767,BC001022,BC061581,BC105034,BC105036,BC107882,BU520836,CR600002,CR600729,CR608704,CR615198,CR615525,CR616904,CR617195,CR621939,CR623200,CR625578 NP_066952,CAI13692,CAI13693,EAW54383,EAW54384,EAW54385,EAW54386,BAA84702,AAP97214,AAD24964,AAF17222,AAD34643,AAG36780,AAH01022,AAH61581,AAI05035,AAI05037,AAI07883,Q15181,Q5SQT6,ABM84523 Hs.437403 IOPPP|MGC111556|PP|PP1|SID6-8061 PPase|cytosolic inorganic pyrophosphatase|diphosphate phosphohydrolase|inorganic diphosphatase|inorganic pyrophosphatase|inorganic pyrophosphatase 1|pyrophosphatase (inorganic)|pyrophosphatase 1|pyrophosphate phospho-hydrolase protein-coding 1604365 PPA2 pyrophosphatase (inorganic) 2 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 16381901,16341674,16300924,15489336,15489334,15210126,15146197,14702039,12665801,12477932,11230166,11076863,11042152,19067239,20332099,20379614,6120771,20877624 27068 AK294097,AK299125,AL136655,AW953776,BC008246,BC012903,BC022803,BC035569,BC039462,BC057219,BG705183,BM840112,BM848099,CN423093,CR590064,CR609410,CR611738,CR614549,NM_176866,NM_006903,NM_176869,AC004066,AC106888,CH471057,AB026722,AF161473,AF217187,AI419577,AK000466,AK289607,NM_176867 BAG57434,BAG61178,CAB66590,AAH22803,AAH39462,AAH57219,BAF82296,Q9H2U2,CAL38123,CAL38360,CAL38629,CAL38669,CAL38671,ACE87101,ACE86426,NP_789843,NP_789842,NP_008834,NP_789845,AAY41040,EAX06180,EAX06181,EAX06182,EAX06183,EAX06184,BAA84701,AAF29088,AAG36781,BAA91184 Hs.654957 FLJ20459|HSPC124|MGC49850|SID6-306 OTTHUMP00000218511|OTTHUMP00000218520|PPase 2|inorganic pyrophosphatase 2, mitochondrial|pyrophosphatase SID6-306|pyrophosphate phospho-hydrolase 2 protein-coding 1314882 PPAN peter pan homolog (Drosophila) The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. This gene was found to cotranscript with P2RY11/P2Y(11), an immediate downstream gene on the chromosome that encodes a ATP receptor. The chimeric transcripts of this gene and P2RY11 were found to be ubiquitously present and regulated during granulocytic differentiation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. [provided by RefSeq] 1580863 10359593,10873382,17353931,10944437,15302935,17081983,16964243,16565220,15489334,12477932,12429849,12077223,11790298,11278528,9405388,19615732 56342 NM_020230,AC020931,CH471106,AJ292529,AW298633,BC000535,BC009833,BC033202,CR590875,CR594907,CR599651,CR601898,CR607280,CR610340,CR610501,CR614009,CR618663,CR621741,CR625570 NP_064615,EAW84075,CAB99252,AAH00535,AAH09833,AAH33202,Q9NQ55 Hs.14468 BXDC3|MGC14226|MGC45852|SSF|SSF-1|SSF1|SSF2 OTTHUMP00000196506|OTTHUMP00000196509|OTTHUMP00000210485|brix domain-containing protein 3|homolog of S. cerevisiae SSF1|second-step splicing factor 1|ssf-1|suppressor of SWI4 1 homolog|suppressor of sterile four 1 protein-coding 1642403 PPAN-P2RY11 PPAN-P2RY11 readthrough transcript The PPAN-P2RY11 mRNA is a naturally occurring read-through product, a result of intergenic splicing between adjacent genes, PPAN and P2RY11. The encoded fusion protein comprises of sequence sharing identity with each individual gene product. This transcript is found to be ubiquitously expressed and is upregulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [provided by RefSeq] 12077223,11278528,9405388,12477932,20967262 692312 CH471106,AF030335,AJ300588,NM_001198690,NM_001040664,AC020931,AX001017 CAB77112,EAW84076,AAB88674,CAC18877,AAI67833,NP_001185619,NP_001035754 OTTHUMP00000196506|OTTHUMP00000196509|OTTHUMP00000210485|PPAN-P2RY11 protein|PPAN-P2RY11 readthrough transcript|SSF1/P2Y11 protein protein-coding 1344834 PPAP2A phosphatidic acid phosphatase type 2A The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is an integral membrane glycoprotein, and has been shown to be a surface enzyme that plays an active role in the hydrolysis and uptake of lipids from extracellular space. The expression of this gene is found to be regulated by androgen in a prostatic adenocarcinoma cell line. At least two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 17207965,9705349,9468526,9570154,9305923,18755152,17169329,17005594,16950767,15489334,14506139,12909631,12477932,12471011,12444089,12426308,10962286,10358934,10087003,9607309,20379614 8611 NM_003711,NM_176895,AC010480,AC025777,CH471123,AB000888,AF014402,AF014403,AF017116,BC008787,BC039847,BC117133,BC143281,BC168254,BI761588,CR593294,CR597320,CR601918,CR602046,CR615521,CR617429,CR617594,CR618167,CR619523 ADQ33024,NP_003702,NP_795714,EAW54920,EAW54921,EAW54922,EAW54923,BAA22593,AAC16032,AAC16033,AAC32041,AAH39847,AAI17134,AAI43282,O14494 Hs.696231,Hs.722091 LLP1a|LPP1|PAP-2a|PAP2|PAP2a2|PAP2alpha2|PAPalpha1 PAP2-alpha|PAP2a|lipid phosphate phosphohydrolase 1|lipid phosphate phosphohydrolase 1a|phosphatidate phosphohydrolase type 2a|phosphatidic acid phosphatase 2a|phosphatidic acid phosphohydrolase type 2a|type 2 phosphatidic acid phosphohydrolase|type-2 phosphatidic acid phosphatase alpha protein-coding 1604845 PPAP2B phosphatidic acid phosphatase type 2B The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 16344560,16099422,20123964,9705349,9305923,18215144,17555747,17005594,15489334,14725715,12856002,12660161,12477932,12471011,10739957,10564277,9110174,8889548,8619474,19913121,20628086 8613 BQ027458,DA580891,NM_003713,AC099562,AC099789,CH471059,AB000889,AF017786,AF043329,AF480883,AK312439,BC009196,BM471786,BM719257,BT019589,BU608248,BU616092,CR598492,CR599005,CR607403,CR618566,U79294 NP_003704,EAX06651,EAX06652,EAX06653,BAA22594,AAC63433,AAD02271,AAO84481,BAG35348,AAH09196,AAV38396,AAB50222,O14495,Q5U0F7,ABM84447,ABM86870 Hs.619002,Hs.405156 Dri42|LPP3|MGC15306|PAP-2b|PAP2-b|PAP2-beta|PAP2B|VCIP PAP2 beta|lipid phosphate phosphohydrolase 3|phosphatidate phosphohydrolase type 2b|type-2 phosphatidic acid phosphatase-beta|vascular endothelial growth factor and type I collagen inducible protein-coding 734254 PPAP2C phosphatidic acid phosphatase type 2C The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 9705349,9607309,18215144,16467304,15489334,12477932,12471011,10992322,9570154,16169070 8612 NM_003712,NM_177526,NM_177543,AC016588,CH471242,AB209696,AF035959,AF047760,AF056083,BC002806,BG831889,BM050291,BT007021 NP_003703,NP_803545,NP_808211,EAW61207,EAW61208,EAW61209,BAD92933,AAC15968,AAC32104,AAC25666,AAH02806,AAP35667,O43688,Q59EW5 Hs.465506 LPP2|PAP-2c|PAP2-g PAP2-gamma|PAP2c|lipid phosphate phosphohydrolase 2|phosphatidate phosphohydrolase type 2c|phosphatidic acid phosphatase 2c|phosphatidic acid phosphohydrolase type 2c|type-2 phosphatidic acid phosphatase-gamma protein-coding 1351368 PPAPDC1A phosphatidic acid phosphatase type 2 domain containing 1A 2314524 17590538,12477932,20379614 2314524 196051 NM_001030059,AC023282,AC073587,AL157782,BD418666,CH471066,AK098668,AK310178,BC101267,BC101268,BC101269,BC122535,BC132787,BI550027,CR739184,DR000933 NP_001025230,CAH70332,CAH70333,EAW49368,EAW49369,AAI01268,AAI01269,AAI01270,AAI22536,AAI32788,Q5VZY2,ADR82924 Hs.40479 DPPL2|MGC120299|MGC120300|PPAPDC1 OTTHUMP00000020618|OTTHUMP00000020619|diacylglycerol pyrophosphate like 2|phosphatidate phosphatase PPAPDC1A|phosphatidic acid phosphatase type 2 domain-containing protein 1A protein-coding 1607002 PPAPDC1B phosphatidic acid phosphatase type 2 domain containing 1B 18757432,17590538,16261160,12477932,17207965 84513 NM_032483,NM_001102560,AC087362,BD418664,CH471080,AA761242,AF212238,AK292118,BC033025,BC106014,BE856962,BQ272061,CR591117,NM_001102559,CR597379,CR606143,CR606207,DB458595 NP_001096029,NP_115872,NP_001096030,EAW63325,EAW63326,EAW63327,EAW63328,EAW63329,AAK14924,BAF84807,AAH33025,AAI06015,Q8NEB5,ADQ31845 Hs.567619 DPPL1|HTPAP diacylglycerol pyrophosphate like 1|phosphatidate phosphatase PPAPDC1B|phosphatidic acid phosphatase type 2 domain-containing protein 1B protein-coding 1606068 PPAPDC2 phosphatidic acid phosphatase type 2 domain containing 2 17081983,16464866,15489334,15164053,14702039,12477932,19220020,20110354 403313 NM_203453,AL136231,CH471071,AK074672,AK128369,BC036833,BC038108 NP_982278,CAI41266,EAW58785,BAG54667,AAH38108,Q8IY26 Hs.107510 FLJ46512|FLJ90191|MGC15483|PDP1|PSDP|bA6J24.6 PPAP2 domain-containing protein 2|phosphatidic acid phosphatase type 2 domain-containing protein 2|polyisoprenoid diphosphate phosphatase type 1|presqualene diphosphate phosphatase protein-coding 1314085 PPAPDC3 phosphatidic acid phosphatase type 2 domain containing 3 737633 16303743,15489334,15164053,14702039,12958361,12477932,19704009 737633 84814 NM_032728,AL354855,CH471090,CQ783303,AK027568,AK075207,AK315502,BC006362,CR599374,CR619561 NP_116117,CAI16274,CAI16275,EAW87966,EAW87967,CAF86515,BAB55204,BAC11472,BAG37886,AAH06362,Q8NBV4 Hs.134292 C9orf67|FLJ14662|KIAA0515|MGC12921|NET39 phosphatidic acid phosphatase type 2 domain-containing protein 3|probable lipid phosphate phosphatase PPAPDC3 protein-coding 737309 PPARA peroxisome proliferator-activated receptor alpha Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq] 2313779,2313778,1580222,1580228,1580229,1580230,1580231,1580226,1580863 19913121,20485444,20602615,20620111,20628086,20647061,20653996,20673868,20679960,20682687,20214982,20466884,19955185,20399568,20421589,9610365,9407140,9238002,8993548,8910358,8621574,7981125,11733490,11891224,15615782,18394939,18388689,18336366,18313368,18292238,18268046,18255343,18245819,18219093,18184928,18182682,18172578,18061194,18004978,18003597,17998026,17991667,17963696,17962186,17951966,17926914,17850927,17705849,17700210,17655842,17646210,17616429,17608096,17492134,17436029,17431031,17363837,17363697,17356846,17355223,17342071,17331954,17317762,17300045,17272748,17200111,17195188,17184146,17181634,17150915,17129741,17084382,17008383,17001213,16956579,16875506,16847426,16822823,16806233,16763159,16652134,16637234,16630553,16511589,16506057,16492688,16416313,16377806,16309557,16297361,16288986,16288935,16285997,16275545,16239970,16226051,16221474,16189514,9113987,12039952,16554032,16271724,7684926,9792666,19114110,12700342,19653005,19560472,16169070,16162941,16043164,15940190,15935279,15888456,15811118,15797250,15759454,15735069,15699916,15699244,15685545,15677519,15642120,15608561,15549499,15539630,15521013,15500444,15497675,15461802,15456881,15318936,15309680,15258199,15231516,15221005,15199365,15196699,15131257,15128052,15111510,15083308,15067378,15051727,15001550,15001458,14999402,14764586,14730379,14702039,14677049,14671555,14641801,14633846,14523052,14519597,14515181,12938026,12932225,12914524,12897377,12855749,12847522,19527689,19453261,19433068,19422653,19420105,19386311,19367093,19263263,19255064,19254215,19223982,19217440,19208777,19157507,19141539,19119483,19118026,19115207,19070893,18996102,18981151,18977277,18955051,18855529,18853997,18848838,18797151,18787507,18786524,18727927,18726867,18725353,18713766,18680716,18660489,18652775,18586686,18549840,18541586,18518955,18440986,18398047,12835617,12810707,12745064,12709436,12655356,12615366,12594814,12594295,12554753,12544508,12482853,12477932,12468272,12408750,12395215,12208475,12203367,12189208,12163133,12161442,12118038,12118000,12055195,12048138,12042669,12023905,12006394,11981036,11980898,11940516,11934839,11923467,11914252,11897821,11897617,11864924,11852057,11845213,11840500,11818483,11698662,11668221,11587644,11466580,11409711,11375929,11337467,11226238,11119019,10903152,10872826,10862523,10860941,10786636,10681503,10669761,10591208,10542237,10403814,10377439,10336495,10195690,10187842,10022764,9915808,9795230,9748221,9653119,9627117,9626662,20400503,12955147,16042408,19357976,19362162,19422369,19451226,19458633,19628794,19660836,19681917,19706994,19710929,19733654,19748481,19776627,19780876,19789836,19822141,19823578,19828088,19878569,19887568,19937854,19948841,19948975,20044476,20045185,20070029,20178979,20346360,20384434,20426853,20450745,20452482,20379614,20496064,20016041,20638986,20810571,17244467,20414453,19782026,20800603,20811626,20825652,20838448,20855565,21030426 2313779,2313778,1580222,1580228,1580229,1580230,1580231,1580226 5465 HI519550,NM_005036,NM_001001928,NG_012204,AL049856,AL078611,AY206718,CH471138,DQ867023,Z94161,AB073605,AB307690,AF018254,AF086231,AK024738,AK027101,AK091885,AK289821,AK311946,AU099251,AU104848,AY258326,AY258327,AY258328,AY258329,AY258330,AY258331,BC000052,BC004162,BC009069,BC071932,BQ024839,CR456547,CR457435,EU395809,EU650667,L02932,S74349,Y07619,Y16186 CBX54356,NP_005027,NP_001001928,CAI22450,AAO13489,EAW73402,EAW73403,EAW73404,ABI52417,BAH02281,BAF82510,BAG34887,AAO89521,AAO89522,AAO89523,AAO89524,AAO89525,AAO89526,CAG30433,CAG33716,ABY73535,ACD12656,AAA36468,AAB32649,CAA68898,CAA76112,O75780,Q07869,Q86SF0,CAK54578,CAK54877 Hs.103110,Hs.710044 MGC2237|MGC2452|NR1C1|PPAR|PPARalpha|hPPAR OTTHUMP00000197740|OTTHUMP00000197741|PPAR-alpha|nuclear receptor subfamily 1 group C member 1|peroxisome proliferative activated receptor, alpha|peroxisome proliferator activated receptor alpha|peroxisome proliferator-activated receptor alpha protein-coding 1603230 PPARAL peroxisome proliferator-activated receptor alpha-like 9027492 5466 U72041 Hs.585799 protein-coding 736289 PPARD peroxisome proliferator-activated receptor delta This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. [provided by RefSeq] 1580681,633661,2313780,2313781,1625186,1580863,2324872,2324875,2324876,2324871,2324886,2324897 19913121,20160399,20485444,20621019,20628086,20645257,20647061,20195266,19283612,19208777,19157507,19074989,19064572,19056929,18797401,18797151,18776129,18720000,18701481,18676870,18660489,18657264,18636547,18627005,18625220,18606951,18566335,18511850,18438697,18388689,18379566,18337509,18305567,18288282,18252792,18240567,18239549,18182682,18048767,18037904,18024853,17926914,17855759,17724132,17705821,17693664,17669420,17618585,17436029,17431579,9113987,1333051,11551955,15192438,15803109,15793256,10991946,19383774,19307598,19303973,14574404,12970571,12934104,12909723,12615676,12594814,12477932,12009300,11980898,11867749,11847022,11226285,10872826,10866668,10851270,10839530,10567538,10555149,10198642,9647638,8910358,8812511,7876127,12943985,15615782,16930961,20811626,20844743,20855565,17409576,17356846,17355643,17327385,17324937,17322100,17303761,17303142,17272748,17259439,17254750,17178883,17148604,17119917,17116180,17068288,16979821,16966336,16953259,16906219,16897074,16806233,16804087,16752430,16652134,16645156,16511591,16476973,16387648,16368717,16361076,16344721,16344560,16306381,16285997,16141797,16091736,16061473,15979543,15890193,15888456,15811118,15790807,15604518,15591138,15489334,15231748,15146197,15128052,15102088,15001550,14988273,14758356,14702039,14641801,20424164,12955147,15604093,16053787,17294733,17803688,18937948,19201410,19429679,19435887,19453261,19461048,19512923,19527689,19578796,19615407,19628794,19653005,19666693,19681917,19723884,19756148,19805479,19818126,19838202,19863319,19878569,19903700,19935699,19948841,19948975,19951549,20044476,20045185,20200337,20308079,20379614,20416077,20453000,20512451,20624891,19538467,20592029,20595396,20840271,19395102 1580681,633661,2313780,2313781,1625186,2324872,2324875,2324876,2324871,2324886,2324897 5467 NM_006238,NM_177435,AF246303,AL022721,AY442342,CH471081,AB099507,AB307691,AK122614,AK291661,AK296425,AK304482,AK304878,AY919140,AY927506,BC002715,BC007578,BQ441091,CN332566,DA192442,DA476590,L07592,HI519540,BC127809,BE503383,NG_012345,NM_001171818,NM_001171819,NM_001171820 NP_006229,NP_803184,AAF62553,CAB38629,CAD92505,AAR05439,EAX03825,EAX03826,EAX03827,EAX03828,BAC78903,BAH02282,BAG53624,BAF84350,BAH12347,BAG65293,BAG65615,AAX14041,AAH02715,AAH07578,AAA36469,Q03181,CBX54351,NP_001165289,NP_001165290,NP_001165291 Hs.696032 FAAR|MGC3931|NR1C2|NUC1|NUCI|NUCII|PPAR-beta|PPARB OTTHUMP00000016256|OTTHUMP00000016257|PPAR-beta|PPAR-delta|nuclear hormone receptor 1|nuclear receptor subfamily 1 group C member 2|peroxisome proliferator activated receptor delta|peroxisome proliferator-activated receptor beta|peroxisome proliferator-activated receptor delta 1643377 BW325_H protein-coding 69168 PPARG peroxisome proliferator-activated receptor gamma This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq] 1580863,2301854,2301859,2301886,2301860,2301893,2301881,2301884,2301844,2301845,2301849,2301861,2301870,2301875,2301852,2301862,2301843,2301846,2301853,2301856,2301864,2301866,2301874,2301890,2301857,2301868,2301888,2301892,2301850,2301851,2301847,1580657,1580683,1580684,1580685,1580686,1580687,1580688,1580689,1580690,1580659,1580721,1601443,1601444,1601445,1601446,1331525,2317462,2317461,2317459,2317460 19913121,20485444,20536507,20542036,20550665,20558736,20560917,20568969,20571754,20580033,20580778,20591056,20596649,20600006,20602615,20606394,20608974,20616309,20621019,20623456,20628086,20631015,20640553,20644561,20650551,20651683,20653996,20668149,20673868,20679960,20694299,20733583,20682687,20399568,20649594,20889551,12544508,9626662,9373149,9356045,9325263,9228052,9168928,9144532,9065481,9030579,8702406,8125298,8001151,7838715,7787419,15070754,14764597,15075535,14636573,10558993,15047147,12943985,11792840,11891224,10930400,1504714,9041124,15694360,12039952,15615782,14761960,20211142,20712903,20722066,20734064,20800603,20811626,20816152,20825652,20855565,20857895,20879858,20885348,20889853,20923526,20929593,20930717,21044285,21054877,21061265,20302927,20554962,20717101,21059469,9113987,10622252,9568715,9744270,9568716,17145956,19114110,12700342,10973253,12588810,19651920,19644638,19634985,19631630,19622037,19609844,19602701,19592620,19587357,19560328,19558269,19549442,19548113,19543210,19536736,19536733,19535643,19534662,19526109,19506043,19502414,19500413,19494505,15345676,15333496,15331599,15318936,15299084,15284449,15265789,15258247,15258145,15254719,15236769,15220243,15217350,15211802,15202783,15201543,15193259,15187150,15165749,15161789,15156314,15144586,15136115,15128052,15113752,15111325,15083308,15077315,15072437,15056000,15054105,15042019,15041706,15023995,19491387,16857792,16854216,16842753,16835228,16824933,16823031,16822823,16804087,16803995,16789503,16785230,16785159,16783862,16777151,16775170,16771114,16766531,16763406,16725353,16713673,16696315,16687627,16682954,16678327,16644636,16644635,16643621,16640330,16633734,16630553,16625233,16622580,16600233,15015141,14988278,14981210,14974928,14747257,14730381,14729856,14702344,14686729,14681835,14681322,14680975,14677049,14671555,14671211,14671186,14668325,14659862,14657011,14633865,14627349,14616762,14604894,14587029,14581158,14581151,14581147,14574455,14566836,14550563,14515149,14514601,14506281,14506127,12974743,12970322,12949056,12923397,12923396,12923071,12915690,12866036,12861348,12839942,12839938,12829999,12829715,12829658,12829631,12827242,12821652,12813462,12805087,12801610,12801525,12800228,12800106,12779083,12776192,12767049,12765972,12765846,12763030,19000312,18997828,18996470,18996102,18992263,18992148,18984664,18977277,18977231,18972257,18959602,18936436,18936159,18931513,18927468,18927280,18855061,18845641,18836859,18832723,18828733,18823720,18809223,18789822,18789607,18789381,18786524,18777501,18757431,18756295,18435931,18426866,18426861,18424599,18417957,18413760,18411276,18398047,18391483,18388889,18388689,18382765,18381063,18379566,18372903,18372284,18370824,18362424,18346728,18317437,18317436,18317435,18317434,18316027,18313368,18313022,18293083,18292390,17765929,17763950,17704298,17700648,17696929,17681394,17681149,17665979,17664351,17658197,17653445,17651710,17643887,17628005,17624182,17616777,17614769,17612754,17611675,17611413,17611194,17601994,17588204,17587797,17574226,17573040,17570749,17565986,17563457,17553506,17544013,17535976,17535427,17532820,17521736,17513608,17766367,16595010,16574647,16567542,16556603,16543247,16542739,16541712,16530159,16513680,16504037,16489531,16474974,16451087,16421345,16420563,16419492,16417216,16412238,16407418,16407258,16407166,16401314,16400517,16393309,16391825,16388849,16373923,16367885,16362285,16352687,16344721,16338464,16316841,16314192,16311214,16303758,16298355,16259478,16253648,16249460,16239304,16230789,16219715,16216916,16215757,16210701,16204373,16201313,16186413,16180511,16179407,16156795,16141797,16115480,16110031,16108843,16108832,16096283,16091736,16084854,16050954,16039966,16029943,16007414,15994875,15990085,15988700,15988600,15986237,15985484,15976135,15976031,15974597,15972940,15959859,15959417,15959400,15950942,15946122,15940190,15935279,15934434,15926113,15920035,15919430,15896659,15894676,15888456,15887858,15880426,15860437,15857827,15855323,15855261,15855254,15853827,15846185,15827101,15811118,15799829,15799828,15797964,15785241,15784141,15782399,15781755,15781195,15778927,15764642,15759454,15756430,15739197,15729575,15727952,15705622,18608213,18604218,18598350,18597214,18593980,18591388,18579355,18578080,18573313,18561518,18556801,18555503,18551086,18547997,18544633,18538667,18535203,18516622,18516296,18513389,18509005,18507082,18498634,18496506,18490773,18483152,18469005,18467141,18466209,18465691,18451773,18450755,18443916,18288282,18282590,18280041,18271689,18268966,18268046,18263601,18250615,18247297,18242157,18241614,18239549,18234854,18217139,18214615,18212765,18211635,18209083,18204896,18204431,18203887,18202670,18198294,18187557,18182855,18182682,18172578,18164040,18162503,18160840,18159845,18158351,18096664,18091023,18082740,18077140,18077048,18055759,18004978,17999673,17999084,17998334,17994213,17985660,17980149,17941898,17937104,17932108,17929009,17928738,17926914,17921408,17903300,17902047,17898990,17896990,17892998,17890503,17884443,17874829,1787016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,20384434,20388362,20392673,20403997,20413122,20420754,20421464,20424228,20426853,20430250,20437058,20437825,20440859,20450366,20450751,20452482,20453000,20468064,20490451,20492333,20503258,20512451,20512989,20540670,20021832,20501643,21135166,20406953,20510503,20645257,20581827,20130411,20360975,20484415,20840271,20032081,20299237,19395102,20668019,20672248,20715992,20951680,21093321 2301854,2301859,2301886,2301860,2301893,2301881,2301884,2301844,2301845,2301849,2301861,2301870,2301875,2301852,2301862,2301843,2301846,2301853,2301856,2301864,2301866,2301874,2301890,2301857,2301868,2301888,2301892,2301850,2301851,2301847,1580657,1580683,1580684,1580685,1580686,1580687,1580688,1580689,1580690,1580659,1580721,1601443,1601444,1601445,1601446,1331525,2317462,2317461,2317459,2317460 5468 HI519538,NM_138712,NM_005037,NM_138711,NM_015869,NG_011749,AB005520,AB005526,AC090947,AC091492,AC093174,AF012873,AF012874,AY157024,CH471055,AB097931,AB107271,AB307692,AB451337,AB451486,U63415,U79012,X90563,AJ563369,AJ563370,AJ698135,AK223528,AK290581,AL523434,BC006811,BG323933,BI820841,BM923992,BQ925271,BT007281,CR599329,CR605352,CR609113,CR609454,CR622226,D83233,DQ356894,AB472042 CBX54350,NP_619726,NP_005028,NP_619725,NP_056953,BAA23353,BAA23354,AAN38992,EAW64123,EAW64124,EAW64125,BAD20647,BAD34540,BAH02283,BAG70151,ABC97372,AAB04028,AAC51248,CAA62152,CAA62153,P37231,Q0QJH8,Q4W448,Q4W4C6,Q4W4C7,Q53EW1,Q6L9M1,Q86WD1,Q9UEF6,ABM82034,ABM85215,BAG70300,CAD91388,CAD91389,CAG29019,BAD97248,BAF83270,AAH06811,AAP35945,BAA18949,BAI63629 Hs.162646 CIMT1|GLM1|NR1C3|PPARG1|PPARG2|PPARgamma OTTHUMP00000185032|OTTHUMP00000185036|PPAR gamma|PPAR-gamma|nuclear receptor subfamily 1 group C member 3|peroxisome proliferator activated receptor, gamma|peroxisome proliferator-activated receptor gamma|peroxisome proliferator-activated receptor gamma 1 2289256,2289503,2289518 BW95_H,BW443_H,BW454_H protein-coding 1342674 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq] 2311391,1580863 19913121,20628086,20647061,20677014,20679960,20682687,20733583,10713165,12588810,14636573,15572661,11854298,11551810,10585775,1258810,19453261,19422653,19422651,19420105,19322023,19297390,19273754,19265027,19237423,12189208,12181572,12107756,12032643,12011097,11943463,11916956,11875072,11793024,11788685,11751919,11741533,11733490,11714715,11557984,11340167,11158005,10983978,10748020,10669761,10643692,10558993,12397057,10412986,9529258,18198341,20125101,20139785,20211864,20661474,20670916,20531298,20884884,20368732,20713359,20890895,20371735,16403952,16395669,16341842,16241916,16216916,16150865,16132959,16123152,16122961,16086291,16051671,15964996,15937669,15912394,15908514,15864539,15826954,15824463,15821111,15784253,15782399,15738346,15705733,15649578,15599700,15592662,15582274,15581067,15572376,15337744,15329387,15322103,15254719,15146371,15111510,14978033,14744933,14729567,14670614,14652494,14633846,14574455,14522988,12972445,12866036,12832613,12611894,12606537,12606503,12574109,12565902,12563009,12522104,12502716,12477932,12470660,12470296,19233136,19200361,19183932,19179292,19148128,19142226,19118529,19112161,19103600,19077249,19070258,19065516,19061896,19056482,19038972,18996470,18974883,18950845,18923559,18823672,18801770,18786524,18776129,18719883,18689799,18673300,18660489,18653753,18614852,18588668,18565194,18563384,18501443,18469005,18467552,18451773,18441008,18438697,18385139,18370824,18331997,18270681,18242180,18162502,18067759,17999673,17971240,17926914,17907962,17828388,17701054,17680531,17646210,17630210,17579564,17502589,17490458,17479445,17457313,17418099,17390150,17374560,17372612,17355643,17342473,17327880,17327385,17322100,17290397,17284167,17241533,17216277,17187763,17150186,17108241,17032743,17018837,17018277,16978381,16978372,16929032,16902166,16896940,16891621,16891307,16882880,16857725,16804087,16753578,16752166,16704985,16631115,16600233,16494845,16474966,16446747,16443502,16435105,20308248,20551328,20130411,20638986,20716531,12181319,15604093,15744310,16488887,17050673,18798693,19102936,19371772,19389810,19435887,19451226,19460884,19536736,19567523,19578796,19625249,19651776,19653005,19666693,19680556,19681917,19723495,19793803,19793822,19828207,19846556,19861117,19876004,19884383,19900151,19903700,19913841,19948975,19961051,19965780,20032281,20044476,20045142,20067526,20106991,20133449,20178833,20384434,20426853,20437825,20453000,20468064,20477822,20492333,20498286,20512451,20200320,20448046,20401754,19553684,20931535,20944660,20952631 2311391 10891 NM_013261,AC092834,AF108205,CH471069,AB061325,AF106698,AF159714,AF186379,AK024990,AK296591,AK301883,AK309261,BC029800,EU280319 NP_037393,AAY41058,AAF19083,EAW92811,EAW92812,BAE46508,AAF18573,AAD51615,AAD56250,BAH12392,BAH13576,Q3LIG1,Q4W5M7,Q9UBK2,AAI56324,AAI57069,ABX44665 Hs.527078 LEM6|PGC-1(alpha)|PGC-1v|PGC1|PGC1A|PPARGC1 PGC-1-alpha|PPAR gamma coactivator variant form|PPAR gamma coactivator-1|PPAR-gamma coactivator 1-alpha|PPARGC-1-alpha|ligand effect modulator 6|ligand effect modulator-6|peroxisome proliferative activated receptor, gamma, coactivator 1, alpha|peroxisome proliferator-activated receptor gamma coactivator 1-alpha 1643453,2314831 BW99_H,INSUL23_H protein-coding 1350671 PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta 1642499,1642500,1642501,1580863 11854298,19297390,19065516,18974884,18660489,17690194,17579828,17341490,17018837,16896940,16759305,16704985,16132959,15863669,15546003,14702039,12832613,12678921,12565902,12551939,12477932,12470660,12181319,12107756,12032643,11793024,11733490,10713165,10585775,20561910,19913121,20628086,20677014,20682687,17554339,19340012,19491097,19653005,20058823,20237496,20416077,20453000,20477822 1642499,1642500,1642501 133522 NM_133263,AC008545,AC022100,CH471062,AF468496,AF468497,AK095391,AK123614,AK123715,AY188947,AY188948,AY188949,AY188950,BC026956,BC132971,BC132973,BC144251,AK024346,BX648997,CA435617,NG_016747,NM_001172698,NM_001172699 NP_573570,EAW61759,EAW61760,EAW61761,EAW61762,EAW61763,AAL78633,AAL78634,BAC04541,BAG53922,AAO40022,AAO40023,AAO40024,AAO40025,AAH26956,AAI32972,AAI32974,AAI44252,Q86YN6,Q8TAL0,NP_001166169,NP_001166170 Hs.483816 DKFZp686C1790|ERRL1|FLJ14284|PERC|PGC-1(beta)|PGC1B OTTHUMP00000198104|PGC-1-related estrogen receptor alpha coactivator|PPAR-gamma coactivator 1-beta|PPARGC-1-beta|peroxisome proliferative activated receptor, gamma, coactivator 1, beta|peroxisome proliferator-activated receptor gamma coactivator 1-beta protein-coding 733613 PPAT phosphoribosyl pyrophosphate amidotransferase The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. This protein is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosynthesis. This gene and PAICS/AIRC, a bifunctional enzyme catalyzing steps six and seven in the purine nucleotide biosynthesis pathway, are located in close proximity on chromosome 4. 1580863 8106516,15489334,12477932,10597272,10593947,9373149,9108165,8380692,8125298,1574589,752480 5471 NM_002703,AC068620,CH471057,U00239,AB209246,AK222759,AK290942,AK312297,BC004200,CR592110,CR596411,CR599321,D13757,U00238 NP_002694,EAX05487,EAX05488,BAD92483,BAD96479,BAF83631,BAG35224,AAH04200,BAA02903,AAC27345,Q06203,Q53H22,Q59G63,ABM84410,ABM87409 Hs.331420 ATASE|GPAT|PRAT amidophosphoribosyltransferase|glutamine PRPP amidotransferase|glutamine phosphoribosylpyrophosphatate amidotransferase|glutamine phosphoribosylpyrophosphate amidotransferase protein-coding 1348767 PPATP1 phosphoribosyl pyrophosphate amidotransferase pseudogene 1 8106516,8106516 5472,100289640 AC108709,NG_022210 pseudo 736390 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and sythesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. [provided by RefSeq] 1625598,1580863 19913121,20628086,4005226,47244,17220270,17045893,16807663,16806233,16391012,16317101,15815621,15489334,15340161,15316029,14673015,12878486,12665801,12477932,12297130,12193731,11468158,11167759,10877842,10343098,10049766,9794434,9725262,8950790,8702798,8580362,8195702,8051099,8034022,7890771,7706245,6572368,6183294,2966071,2783111,2713489,2522778,2423119,2406364,2007144,1873479,1837963,1830861,1826003,1427896,1387511,1316786,426909,77677,10419831,16169070,16712791,20224257,2834384,10764593,15115243,16344560,17700216,17703412,18240029,18632422,18707017,18797178,19258923,20237496,20503287,18577758 1625598 5473 AAB46877 NM_002704,AC097709,AF349466,CH471057,AK312166,BC028217,BQ447470,BX443846,CB112845,CR456805,M54995,DA419455 NP_002695,AAY41004,AAK29642,EAX05695,BAG35100,AAH28217,CAG33086,AAA62836,AAB46877,P02775,ABM81946,ABM85126 Hs.2164 B-TG1|Beta-TG|CTAP-III|CTAP3|CTAPIII|CXCL7|LA-PF4|LDGF|MDGF|NAP-2|PBP|SCYB7|TC1|TC2|TGB|TGB1|THBGB|THBGB1 C-X-C motif chemokine 7|CXC chemokine ligand 7|beta-thromboglobulin|connective tissue-activating peptide III|leukocyte-derived growth factor|low-affinity platelet factor IV|macrophage-derived growth factor|neutrophil-activating peptide 2|neutrophil-activating peptide-2|platelet basic protein|pro-platelet basic protein|small inducible cytokine B7|small inducible cytokine subfamily B, member 7|small-inducible cytokine B7|thrombocidin 1|thrombocidin 2|thromboglobulin, beta-1 protein-coding 1347875 PPBPL1 pro-platelet basic protein-like 1 18797178,17700216,15115243,12297130,1316786 728045 AC092438,AC108029,NG_016721 TGB2 pseudo 1345126 PPBPL2 pro-platelet basic protein-like 2 1580863 12477932,7887923 10895 NR_026769,AC097709,BC132938,BC132940,L10403 AAY41007,AAA68277 Hs.3134 SPBPBP pseudo 1605355 PPCDC phosphopantothenoylcysteine decarboxylase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM] 15581364,15489334,14702039,14501115,12975309,12477932,11923312,16169070 60490 NM_021823,AC015720,CH471136,AF182419,AK027491,AY358848,BC005877,BC014409,BF243417,CR615272 NP_068595,EAW99275,EAW99276,AAG14955,BAB55151,AAQ89207,AAH14409,Q96CD2,ABM83135,ABM86331 Hs.458922 FLJ14585|MDS018 PPC-DC|coaC|phosphopantothenoylcysteine decarboxylase protein-coding 1605955 PPCS phosphopantothenoylcysteine synthetase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM] 16710414,15489334,14702039,12906824,12477932,11923312,19683078 79717 NM_024664,NM_001077447,AL445669,CH471059,AK021900,BC012383,BC062586,BC104938,BC106064,BC112015,CR595942,CR606074,CR606199,CR615199,CR619545 NP_078940,NP_001070915,CAH70746,CAH70747,CAH70748,CAH70749,EAX07158,BAB13931,AAI04939,AAI06065,AAI12016,Q5VVM0,Q5VVM3,Q9HAB8 Hs.706662 FLJ11838|MGC117357|MGC138220|RP11-163G10.1 OTTHUMP00000008433|PPC synthetase|phosphopantothenate--cysteine ligase protein-coding 1321693 PPDPF pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) 15489334,12477932,11780052 79144 NM_024299,AL121829,CH471077,AK024699,BC002531,BC056416,CR594162,CR608021 NP_077275,CAC15523,CAC15524,CAI95747,EAW75264,EAW75265,AAH02531,AAH56416,Q9H3Y8 Hs.79625 C20orf149|FLJ21046|MGC2479|dJ697K14.9 OTTHUMP00000031563|exocrine differentiation and proliferation factor|pancreatic progenitor cell differentiation and proliferation factor protein-coding 1606579 PPEF1 protein phosphatase, EF-hand calcium binding domain 1 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq] 9215685,15772651,15489334,14759258,12665801,12477932,12051765,11713293,10617768,9430683,9326663 5475 NM_006240,NM_152226,NM_152224,NG_012519,AL096700,CH471074,Z94056,AF023455,AF027977,AK290463,AK292235,AK295504,AK300815,AK315809,BC036026,X97867 NP_006231,NP_689412,NP_689410,CAI42857,EAW98943,EAW98944,EAW98945,EAW98946,EAW98947,EAW98948,EAW98949,CAI42777,AAB82795,AAC05825,BAF83152,BAF84924,BAH12089,BAH13353,BAF98700,AAH36026,CAA66461,O14829,ACE87331,ACE86649 Hs.211589 PP7|PPEF|PPP7C|PPP7CA protein phosphatase 7, catalytic subunit, alpha isozyme|protein phosphatase with EF calcium-binding domain|protein phosphatase, serine/threonine type, with EF-hands|serine/threonine protein phosphatase 7|serine/threonine-protein phosphatase 7|serine/threonine-protein phosphatase with EF-hands 1 protein-coding 1316080 PPEF2 protein phosphatase, EF-hand calcium binding domain 2 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq] 1580863 20674765,9326663,12477932,12051765,11713293 5470 NM_006239,AC110615,CH471057,AF023456,AF023457,AL079280,BC113379,BX648754 NP_006230,EAX05752,EAX05753,EAX05754,EAX05755,AAB82796,AAB82797,AAI13380,O14830,Q14DF6,AAI48515 Hs.290873 PPP7CB protein phosphatase 7, catalytic subunit, beta isozyme|protein phosphatase with EF hands 2|protein phosphatase, EF hand calcium-binding domain 2|protein phosphatase, ef hand calcium-binding domain 2|serine/threonine-protein phosphatase with EF-hands 2 protein-coding 1319111 PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 12923177,7796809,18196592,17419996,17081983,16713569,16313174,16189514,15489334,15324660,14702039,12629171,12477932,11931740,9624153,8524829,16973615,17363573,18782753,19060904,19690048,19787783,20096687 8500 NM_003626,NM_177423,AP000487,AP002336,CH471076,AB209314,AK123331,AK124621,BC034046,BX648037,D49354,U22815,U22816 NP_003617,NP_803172,EAW74763,EAW74764,EAW74765,BAD92551,BAG53890,BAG54059,AAH34046,BAA08353,AAC50172,AAC50173,Q13136,Q59FZ5,ABM83327 Hs.530749 FLJ41337|FLJ42630|FLJ43474|LIP.1|LIP1|LIPRIN|MGC26800 LAR-interacting protein 1|LIP-1|Liprin-alpha1|PTPRF-interacting protein alpha-1|liprin-alpha-1|protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1 protein-coding 1312803 PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein is most closely related to PPFIA1, a liprin family member known to interact with the protein phosphatase LAR. The expression of this gene is found to be downregulated by androgens in a prostate cancer cell line. [provided by RefSeq] 1580863 12923177,9624153,12629171,12477932,12119554,11931740,18782753,20379614 8499 NM_003625,AC011316,AC069228,AC078920,AC079363,AC079408,CH471054,AB210009,AF034799,AK123372,AK126971,AK294505,AK296380,AK297372,AK299853,AK302658,AK307524,BC104912,BC143485 NP_003616,EAW97374,EAW97375,EAW97376,EAW97377,BAE06091,AAC26100,BAG53897,BAG54412,BAH11792,BAH12335,BAH12564,BAH13149,BAH13771,AAI04913,AAI43486,O75334,Q2M3G8,Q4LE62 Hs.506216 FLJ41378|MGC132572 PTPRF-interacting protein alpha-2|liprin-alpha 2|liprin-alpha-2|protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2 protein-coding 1312318 PPFIA3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq] 1580863 12923177,15489334,14702039,12477932,12168954,9734811,9624153,18782753,17474147 8541 NM_003660,AC008687,AC008891,AC096864,CH471177,AB014554,AF034800,AK001525,AK023850,AK025972,AK289757,AK293798,AK308483,BC021255,BC101518,BC101520,BC143470,BU632015,CR606397 NP_003651,EAW52457,BAA31629,AAC26101,BAB14702,BAF82446,BAG57209,AAH21255,AAI01519,AAI01521,O75145 Hs.413748 KIAA0654|LPNA3|MGC126567|MGC126569 PTPRF-interacting protein alpha-3|liprin|liprin-alpha 3|liprin-alpha-3|protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3|protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3 protein-coding 737078 PPFIA4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM] 1580863 12923177,9624153,16713569,14702039,14612982,12629171,12477932,10048485,11931740,14623284,20599943,17474147,19536175 8497 NM_015053,AC105940,AL451082,CH471067,AB020704,AF034801,AI341415,AK023365,AK124535,AK126185,AK126624,AK295757,BC132923,BC132925,BC144262,EF428334 NP_055868,EAW91459,EAW91460,EAW91461,EAW91462,BAA74920,AAC26102,BAG51184,BAG54050,BAC86617,BAG58587,AAI32924,AAI32926,AAI44263,ABR09268,O75335,CAH72275 Hs.153648 Liprin-alpha4|PTPRF-interacting protein alpha-4|liprin alpha4|liprin-alpha-4|protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-4 protein-coding 1320664 PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 17353931,9624153,18029348,17081983,15489334,15324660,12477932,12168954,11836260,10574462,15778465,19965622,20379614 8496 NM_003622,NM_177444,AC009509,AC068794,AC087257,CH471094,AB033056,AB049149,AF034802,AJ276680,AK000807,AK294267,AK314350,BC001560,BC022873,BC046159,BC050281,BM272389,BX648761,CR622010,BQ777042,CA442440,NM_001198915,NM_001198916 NP_003613,NP_803193,EAW96558,EAW96559,EAW96560,EAW96561,EAW96562,BAA86544,BAB39690,AAC26103,CAB77544,BAG57559,AAH22873,AAH46159,AAH50281,Q05CN4,Q86W92,NP_001185844,NP_001185845 Hs.172445 L2|SGT2|hSGT2|hSgt2p PTPRF-interacting protein-binding protein 1|liprin related protein|liprin-beta 1|liprin-beta-1|protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1|protein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1 protein-coding 1316733 PPFIBP2 PTPRF interacting protein, binding protein 2 (liprin beta 2) PPFIBP2, or liprin-beta-2, belongs to the liprin-beta family. See liprin-beta-1 (MIM 603141) for background on liprins.[supplied by OMIM] 1580863 18029348,9624153,16344560,16189514,15489334,14702039,12477932,15778465,18482256,20095854,20379614 8495 NM_003621,AC104237,AC107884,CH471064,AF034803,AK001131,AK025337,AK097449,AK308398,AK311048,AL834426,BC021026,BC021714,BC031865,CR749258,DA339729,AK293669,AK294554,AK296718,AK301978 NP_003612,EAW68652,EAW68653,EAW68654,AAC26104,BAG50858,CAD39087,AAH21714,CAH18114,Q68DV6,Q8ND30,ABM82556,ABM85746,BAH11563,BAH11806,BAH12419,BAH13599 Hs.655714 Cclp1|DKFZp781K06126|MGC42541 PTPRF-interacting protein-binding protein 2|liprin-beta-2|protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2 protein-coding 1353235 PPH1 primary pulmonary hypertension 1 9193425 5477 1343487 PPH2 primary pulmonary hypertension 2 89873 1314694 PPHLN1 periphilin 1 The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 17081983,16964243,16117785,15489334,15474462,15383276,14702039,12853457,12477932,12366696,12087473,11042152,16169070,19730898,17207965,20379614,16341674 51535 AF151066,AK000186,AK055690,AK056622,AK124921,AK129910,AK308022,AY039238,AY157850,BC015322,BC025306,BC039832,BC040449,BM995486,BQ081957,BX647697,CA444170,CF242917,CR601682,CR612564,CR621833,DC424443,R89350,AF151040,NM_201439,NM_201438,NM_001143787,NM_001143788,NM_001143789,AC079601,AC079684,CH471111,NM_016488,NM_201515,NM_201440,AK299951,AK303612,AK303680 NP_958848,AAF36126,AAF36152,BAA90996,BAB70985,AAK68657,AAO16497,AAH25306,AAH39832,Q8NEY8,NP_958847,NP_958846,NP_001137259,NP_001137260,NP_001137261,EAW57845,EAW57846,EAW57847,EAW57848,EAW57849,EAW57850,EAW57851,EAW57852,EAW57853,NP_057572,NP_958923,ADQ32990,BAH13181,BAH13997,BAH14015 Hs.444157 HSPC206|HSPC232|MGC48786 gastric cancer antigen Ga50|periphilin-1 protein-coding 731273 PPIA peptidylprolyl isomerase A (cyclophilin A) This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq] 4890972 15229879,15147195,15130913,15111303,15028279,14716299,14526201,12932580,12897779,12881523,12881522,12859974,12810862,12788626,12730686,12707923,12668872,12665801,12634401,12547912,12477932,12477877,12357034,12218175,12210730,12210402,12208976,12207006,12181673,12167617,12032547,12009870,11929983,11859194,11836403,11830645,11790298,11581426,11379967,11337467,11312344,11058892,10794694,10704338,10208939,10208938,10096576,10026140,9875332,9769216,9658084,9636359,9573245,9557731,9420228,9385632,9380739,9337866,9305737,9299338,9261445,9261419,9223641,9129655,9032343,9016720,8980234,8980222,8976380,8830660,8806510,8764025,8709190,8676452,8676442,8662505,8659916,8652511,8648689,8648687,8513493,8421501,8421500,8263916,7969495,7969494,7884893,7829860,7657784,7572395,7543589,3297675,2197089,2001362,1989998,1946361,1896075,1715516,1602151,10581250,16815734,9546659,16571786,16120388,16785541,16643975,16203999,16199531,7541038,15688292,15782160,2644542,11250896,12091904,2179953,16291214,7590732,1560526,15098018,16780588,11943775,19386705,19297321,19254360,19205352,19185003,19092998,19073742,18829531,18673375,18421009,18417509,18385230,18321308,17991743,17927958,17919644,17897064,17678621,17590083,17522232,17520256,17449029,17038183,16916647,16901758,16885564,16703398,16584201,16501094,16275650,16273344,16189514,16169070,16097034,15952740,15845542,15772070,15680395,15596813,15489334,15388255,15358143,15311922,20471030,14630798,18704644,19380579,19503092,19584157,19656870,19680534,19741300,19758589,19789967,19865066,19956261,20070121,20107018,20139366,20381070,20702630 4890972 5478 AK316564,AU100120,BC000689,BC003026,BC005320,BC005982,BC007104,BC013915,BC018843,BC037419,BC073992,BC093076,BC106030,BC137057,BC137058,BM806224,BM909285,BU786475,BX347265,BX408703,CD014106,CR456707,CR594762,CR603867,CR609623,CR609814,CR613992,CR618683,CR626590,Y00052,NM_021130,AC013436,AY739283,CH236960,X52851,AB451307,AB451438,AF022115,AK026569,AK130101,AK290085,AK290851,AK293003,AK297340 BAG38153,AAH00689,AAH03026,AAH05320,AAH05982,AAH07104,AAH13915,AAH73992,AAH93076,AAI06031,AAI37058,AAI37059,CAG32988,CAA68264,P62937,Q567Q0,Q71V99,ABM83551,ABM86791,NP_066953,AAU13906,CAA37039,BAG70121,BAG70252,AAO64722,BAF82774,BAF83540,BAF85692,BAG59794 Hs.356331,Hs.598115 CYPA|CYPH|MGC117158|MGC12404|MGC23397 OTTHUMP00000208711|OTTHUMP00000208712|PPIase A|T cell cyclophilin|cyclophilin A|cyclosporin A-binding protein|peptidyl-prolyl cis-trans isomerase A|peptidylprolyl isomerase a|rotamase A protein-coding 1342622 PPIAL peptidylprolyl isomerase A (cyclophilin A)-like 170536 NG_001566,AL021395 PPIAL|dJ269M15.1 pseudo 1602268 PPIAL3 peptidylprolyl isomerase A (cyclophilin A)-like 3 10830953 653214 NG_005752,AP001538,AP001674 PPIA3L|PPIAL3 pseudo 1606439 PPIAL4A peptidylprolyl isomerase A (cyclophilin A)-like 4A 14961574,11948409 164022 NM_178230,AL022240,AB084917 NP_839944,CAB46877,BAB92073,A2BFH1,Q9Y536,AAI72332 Hs.573713 COAS2|MGC163248|MGC163250|PPIAL4|PPIAL4B|PPIAL4C|PPIAL4D|PPIAL4G COAS-2|PPIase A-like 4A|PPIase A-like 4B|PPIase A-like 4G|chromosome 1 amplified sequence 2|chromosome 1-amplified sequence 2|cyclophilin homolog overexpressed in liver cancer|cyclophilin-LC (COAS2)|peptidylprolyl cis-trans isomerase A-like 4|peptidylprolyl cis-trans isomerase A-like 4A|peptidylprolyl cis-trans isomerase A-like 4B|peptidylprolyl isomerase A (cyclophilin A)-like 4|peptidylprolyl isomerase A-like 4A protein-coding 2301493 PPIAL4B peptidylprolyl isomerase A (cyclophilin A)-like 4B 11948409,16710414 653505 NM_001143883,BX248398 NP_001137355,CAI18814,Q9Y536 Hs.631792 COAS-2|PPIAL4A|PPIAL4C OTTHUMP00000015510|PPIase A-like 4A|chromosome 1-amplified sequence 2|cyclophilin homolog overexpressed in liver cancer|peptidylprolyl cis-trans isomerase A-like 4A/B/C|peptidylprolyl isomerase A (cyclophilin A)-like 4B protein-coding 2301492 PPIAL4C peptidylprolyl isomerase A (cyclophilin A)-like 4C 653598 NM_001135789,AL451058 NP_001129261,CAH71953,Q9Y536 Hs.717306 COAS-2|PPIAL4A|PPIAL4B OTTHUMP00000015826|PPIase A-like 4A|chromosome 1-amplified sequence 2|cyclophilin homolog overexpressed in liver cancer|peptidylprolyl cis-trans isomerase A-like 4A/B/C|peptidylprolyl isomerase A (cyclophilin A)-like 4C protein-coding 2301486 PPIAL4D peptidylprolyl isomerase A (cyclophilin A)-like 4D 645142 NG_005555,BX283067 pseudo 2301495 PPIAL4E peptidylprolyl isomerase A (cyclophilin A)-like 4E 730262 NM_001144032,AL954711 NP_001137504 Hs.719884 peptidylprolyl isomerase A (cyclophilin A)-like 4E protein-coding 2301101 PPIAL4F peptidylprolyl isomerase A (cyclophilin A)-like 4F 728945 NM_001164262,AL592492 NP_001157734 Hs.723812 cyclophilin-LC (COAS2) pseudogene|peptidylprolyl isomerase A (cyclophilin A)-like 4F protein-coding 2301115 PPIAL4G peptidylprolyl isomerase A (cyclophilin A)-like 4G 14702039,12477932 644591 NM_001123068,BX284650,AK123006,BC130376,BC130378,CR609015,CR622951 NP_001116540,CAM26887,AAI30377,AAI30379,A2BFH1,ADR82833 Hs.534674 BX284650.5|FLJ16804|MGC163248|MGC163250|PPIAL4A COAS-2|PPIase A-like 4A|PPIase A-like 4G|chromosome 1-amplified sequence 2|peptidylprolyl cis-trans isomerase A-like 4|peptidylprolyl cis-trans isomerase A-like 4A|peptidylprolyl cis-trans isomerase A-like 4G protein-coding 1353405 PPIAP peptidylprolyl isomerase A (cyclophilin A), pseudogene 10830953 54037 NG_000914,AP000957,AP001680 PPIAP pseudo 1350778 PPIAP10 peptidylprolyl isomerase A (cyclophilin A) pseudogene 10 9671742 140913 NG_001008,AL354993 CRP|PPIAL2|PPIP10|dJ823G15.1 peptidylprolyl isomerase (cyclophilin) pseudogene 10 pseudo 1349661 PPIAP11 peptidylprolyl isomerase A (cyclophilin A) pseudogene 11 2197089 5483 NG_001177,AC114969,X52856 PPIP1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 pseudo 1347945 PPIAP13 peptidylprolyl isomerase A (cyclophilin A) pseudogene 13 2197089 5485 NG_005167,AL392111,X52853 PPIP3 peptidylprolyl isomerase (cyclophilin) pseudogene 3 pseudo 1345393 PPIAP14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 14 2197089 5486 NG_005168,AP005138,X52854 PPIP4 peptidylprolyl isomerase (cyclophilin) pseudogene 4 pseudo 1353250 PPIAP15 peptidylprolyl isomerase A (cyclophilin A) pseudogene 15 2197089 5487 NG_005169,AC092905,X52855 PPIP5 peptidylprolyl isomerase (cyclophilin) pseudogene 5 pseudo 1350563 PPIAP16 peptidylprolyl isomerase A (cyclophilin A) pseudogene 16 2197089 5488 NG_005170,AC099777,X52857 PPIP6 peptidylprolyl isomerase (cyclophilin) pseudogene 6 pseudo 1352866 PPIAP17 peptidylprolyl isomerase A (cyclophilin A) pseudogene 17 170540 NG_001049,AL161941 PPIP11|bA494B22.1 peptidylprolyl isomerase (cyclophilin) pseudogene 11 pseudo 1625850 PPIAP18 peptidylprolyl isomerase A (cyclophilin A) pseudogene 18 9721214 729673 NG_006115,AC098649,AF026688 AAC34969,O75320 pseudo 1626556 PPIAP19 peptidylprolyl isomerase A (cyclophilin A) pseudogene 19 390006 NG_009701,AL137025,AL354873 bA108K1.2 pseudo 1343959 PPIAP2 peptidylprolyl isomerase A (cyclophilin A) pseudogene 2 170537 NG_001048,AL353812 bA384D7.2 pseudo 4142602 PPIAP20 peptidylprolyl isomerase A (cyclophilin A) pseudogene 20 100500737 AC008758,NG_027657 pseudo 4889170 PPIAP23 peptidylprolyl isomerase A (cyclophilin A) pseudogene 23 390419 AL353734,NG_011394 pseudo 4889377 PPIAP24 peptidylprolyl isomerase A (cyclophilin A) pseudogene 24 122335 AL162574,NG_005155 pseudo 4889378 PPIAP25 peptidylprolyl isomerase A (cyclophilin A) pseudogene 25 647085 AL606514,NG_011429 pseudo 4889389 PPIAP26 peptidylprolyl isomerase A (cyclophilin A) pseudogene 26 121981 AL139085,NG_023035 Q5TAN3 pseudo 1345438 PPIAP3 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 170539 NG_001014,AL109614 bA425M5.2 pseudo 1353009 PPIAP4 peptidylprolyl isomerase A (cyclophilin A) pseudogene 4 122552 NG_002483,AL109628 pseudo 1348915 PPIAP5 peptidylprolyl isomerase A (cyclophilin A) pseudogene 5 122842 NG_002484,AL359219 pseudo 1347833 PPIAP6 peptidylprolyl isomerase A (cyclophilin A) pseudogene 6 2197089 319128 NG_002506,AL122013,X52852 PPIAP12|PPIP2 pseudo 1352715 PPIAP7 peptidylprolyl isomerase A (cyclophilin A) pseudogene 7 2197089 5489 NG_005171,AL109741,X52858 PPIP7 peptidylprolyl isomerase (cyclophilin) pseudogene 7 pseudo 1343272 PPIAP8 peptidylprolyl isomerase A (cyclophilin A) pseudogene 8 341457 NG_006121,AC013283 PPIP8 peptidylprolyl isomerase (cyclophilin) pseudogene 8 pseudo 1345892 PPIAP9 peptidylprolyl isomerase A (cyclophilin A) pseudogene 9 9689108,8824804 5491 NG_001025,AC006046,AL662847,AL663061,BX001040,BX927320,CR753820,CR753864,CT009531,BX005439 PPIP9 peptidylprolyl isomerase (cyclophilin) pseudogene 9 pseudo 732990 PPIB peptidylprolyl isomerase B (cyclophilin B) The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. [provided by RefSeq] 1580863 20237142,16713569,15989969,15952740,15764595,15635413,15489334,14729611,12477932,12475965,12397072,11997457,11955071,11867726,11688976,10935542,10096576,10026140,9378502,9045699,9032343,8513493,8206968,8197205,7909608,7829860,7522304,2040592,1710767,1505219,1286667,12181673,9546659,17353931,2000394,1530944,19297321,19056847,18445599,18054915,17588944,17081065,16169070,19503092,19615732,19781681,19940140,20089953 5479 HB867236,NM_000942,AC100840,AY962310,CH471082,CS208051,AK291149,AK311074,BC001125,BC008848,BC020800,BC032138,BQ931949,CR456829,CR591528,CR595940,CR599100,CR616922,CR617864,M60457,M60857,M63573,NG_012979 CBF57604,NP_000933,AAX44050,EAW77669,CAJ44951,BAF83838,AAH01125,AAH08848,AAH20800,AAH32138,CAG33110,AAA35733,AAA52150,AAA36601,P23284,ABM83215,ABM86414 Hs.434937 CYP-S1|CYPB|MGC14109|MGC2224|OI9|SCYLP PPIase B|S-cyclophilin|cyclophilin b|cyclophilin-like protein|peptidyl-prolyl cis-trans isomerase B|rotamase B protein-coding 1344607 PPIC peptidylprolyl isomerase C (cyclophilin C) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. 1580863 1652374,16713569,15489334,12477932,10077627,9045699,8341703,8031755,7909608,1383094,19584346,17207965 5480 NM_000943,AC022116,AC106786,CH471086,EF506885,AK290321,BC002678,BG721394,BU075157,BX472017,CB963241,CR592786,S71018,AK304053 NP_000934,EAW48878,EAW48879,ABO43038,BAF83010,AAH02678,AAB31350,P45877,BAG64962,ADQ32383 Hs.110364 CYPC|MGC3673 PPIase C|cyclophilin C|parvulin|peptidyl-prolyl cis-trans isomerase C|rotamase C protein-coding 1342741 PPID peptidylprolyl isomerase D The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq] 1580699,1580863,4892102 7744028,9660753,19228691,18806802,18708059,18076075,16650407,16551620,15761153,15497503,15489334,15033717,14729611,12665801,12477932,12149099,12145316,11525244,9195923,8889548,8812478,8509368,1544925,16169070,9222609,18029348,14968112,16507998,19735641,20023700,20037589,20159966,20843780 1580699,4892102 5481 NM_005038,AC107219,AY714221,CH471056,D63861,AK313929,BC014893,BC030707,BG699755,BU726810,CR542081,CR596600,CR622611,CR625064,L11667,HQ205146,HQ205147,HQ205148,HQ205149,HQ205151,HQ205152,HQ205153,HQ205154,HQ205155,HQ205156,HQ205157,HQ205158,HQ205159,HQ205160,HQ205161,HQ205162,HQ205163,HQ205165,HQ205166,HQ205168,HQ205169,HQ205170,HQ205171,HQ205172,HQ205173,HQ205174,HQ205175,HQ205176,HQ205177,HQ205178,HQ205179,HQ205180,HQ205181,HQ205182,HQ205183,HQ205184,HQ205185 NP_005029,AAT97986,EAX04853,BAA09923,BAG36649,AAH14893,AAH30707,CAG46878,AAA35731,Q05DH6,Q08752,Q6FGM6,ABM82488,ABM85675,ADP90616,ADP90617,ADP90619,ADP90620,ADP90621,ADP90622,ADP90614,ADP90615,ADP90623,ADP90624,ADP90625,ADP90626,ADP90627,ADP90628,ADP90629,ADP90630,ADP90631,ADP90633,ADP90634,ADP90636,ADP90637,ADP90638,ADP90639,ADP90640,ADP90641,ADP90642,ADP90643,ADP90644,ADP90645,ADP90646,ADP90647,ADP90648,ADP90649,ADP90650,ADP90651,ADP90652,ADP90653 Hs.183958 CYP-40|CYPD|MGC33096 40 kDa peptidyl-prolyl cis-trans isomerase D|PPIase D|cyclophilin 40|cyclophilin D|cyclophilin-40|cyclophilin-related protein|peptidyl-prolyl cis-trans isomerase D|rotamase D protein-coding 1322860 PPIE peptidylprolyl isomerase E (cyclophilin E) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities and also exhibit RNA-binding activity. Three alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 20532202,20677832,20460131,17207965,11313484,9747881,18258190,16710414,16189514,15489334,14702039,12477932,11991638,8977107,16169070,11976948,18676843,20541251,16344560,15963461,8889548 10450 NM_203456,NM_006112,AL033527,AL035404,AL049824,CH471059,AF042385,AF042386,AF104012,AF104013,AI079772,AK094660,AK130628,AK293094,AK313666,AL833576,BC004898,BC008451,BC107736,BU179717,BU196539,CA445146,CR592103,CR595696,CR617834,CR625617,DQ160195,AK304694,CK300365,DA079924,BU160972,BU689929,CR610205,NM_001195007,NR_036543,NR_036544 NP_982281,NP_006103,CAI19409,CAI19410,CAI19576,CAI19577,ADQ31890,CAI19579,CAI19347,CAI19348,CAI19349,CAI19350,EAX07255,EAX07256,AAC00006,AAC00007,AAD19906,AAD19907,BAG52903,BAF85783,BAG36418,AAH04898,AAH08451,CAI19578,AAI07737,AAZ93379,Q3S611,Q5TGA3,Q9UNP9,BAG65464,NP_001181936 Hs.524690 CYP-33|CYP33|MGC111222|MGC3736 OTTHUMP00000010839|PPIase E|cyclophilin 33|cyclophilin E|cyclophilin-33|peptidyl-prolyl cis-trans isomerase E|peptidylprolyl isomerase E, isoform 1|rotamase E protein-coding 3476416 PPIEL peptidylprolyl isomerase E-like (pseudogene) 14702039,15146197,16344560,17471289 728448 AI075765,AK092606,AK093659,AL365277,DA168720,DA449721,NR_003929 BAC04213,Q8N214 Hs.472508 FLJ35287|FLJ36340|PPIEP1 pseudo 1354243 PPIF peptidylprolyl isomerase F The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq] 1580863 1744118,15635413,15489334,15164054,12975309,12477932,12077116,11790298,10903836,10647893,9874241,20734064,20877624,20881960,17207965,12149099,16385451,18614807,20379614 10105 BE791220,CR594186,CR595750,CR596778,CR596917,CR600263,CR600630,CR601435,CR607225,CR608381,CR608435,CR610799,CR613389,CR614302,CR618101,CR619563,CR620127,CR623400,CR624839,CR626335,M80254,AL133481,AL391665,CH471083,AK296669,AK312757,AL832720,AY358854,BC005020,BC013204,BC110299,NM_005729 AAA58434,P30405,Q2YDB7,Q6UWC4,ACE87134,NP_005720,CAH72725,CAI40994,EAW54645,EAW54646,EAW54647,EAW54648,BAG59266,BAG35623,AAQ89213,AAH05020,AAI10300,ADQ32373 Hs.381072 CYP3|Cyp-D|FLJ90798|MGC117207 OTTHUMP00000019926|PPIase F|cyclophilin 3|cyclophilin D|cyclophilin F|peptidyl-prolyl cis-trans isomerase F, mitochondrial|peptidyl-prolyl cis-trans isomerase, mitochondral|peptidyl-prolyl cis-trans isomerase, mitochondrial|rotamase F protein-coding 731455 PPIG peptidylprolyl isomerase G (cyclophilin G) 1580863 9153302,19058789,17081983,15489334,15358154,15324660,15302935,15016823,12477932,8973360 9360 NM_004792,AC016772,AC093899,CH471058,AK307552,BC001555,BC063711,BC073875,BC109373,BC111693,BG615922,CA418130,U40763,X99717 NP_004783,AAY24233,AAY24119,EAX11267,EAX11268,EAX11269,EAX11270,AAH01555,AAH63711,AAH73875,AAI09374,AAI11694,AAB40347,CAA68053,Q13427,Q2NKQ6,Q32LZ0,Q6GMS9,Q6P432,EAX11266 Hs.727580 CARS-Cyp|CYP|MGC133241|SCAF10|SRCyp CARS-cyclophilin|CASP10|Clk-associating RS-cyclophilin|OTTHUMP00000204761|OTTHUMP00000204762|PPIase G|SR-cyclophilin|SR-cyp|SR-related CTD-associated factor 10|cyclophilin G|matrin cyclophilin (matrin-cyp)|peptidyl-prolyl cis-trans isomerase G|peptidyl-prolyl isomerase G (cyclophilin G)|rotamase G protein-coding 4143664 PPIGP1 peptidylprolyl isomerase G (cyclophilin G) pseudogene 1 19010793 100131033 AADB02009615,ABBA01026209,AC008725 pseudo 1347300 PPIH peptidylprolyl isomerase H (cyclophilin H) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq] 1580863 9570313,15635413,15489334,12907720,12875835,12477932,11823439,10713041,9404889,17643375,19615732 10465 NM_006347,AC098484,CH471059,AF016371,AF036331,AK309438,AK310052,AK311979,BC003412,BT019343,BU955702,CR541899,CR541920 NP_006338,EAX07151,EAX07152,EAX07153,EAX07154,EAX07155,EAX07156,AAC51927,AAC60793,BAG34918,AAH03412,AAV38150,CAG46697,CAG46718,O43447,Q6FH36,Q6FH57,ABM81897,ABM85072 Hs.256639 CYP-20|CYPH|MGC5016|SnuCyp-20|USA-CYP OTTHUMP00000008726|OTTHUMP00000008728|PPIase h|U-snRNP-associated cyclophilin SnuCyp-20|U-snRNP-associated cyclophilin SunCyp-20|USA-CyP SnuCyp-20|cyclophilin H|peptidyl prolyl isomerase h (cyclophilin h)|peptidyl-prolyl cis-trans isomerase H|rotamase H|small nuclear ribonucleoprotein particle-specific cyclophilin H protein-coding 1353678 PPIHP1 peptidylprolyl isomerase H (cyclophilin H) pseudogene 1 246731 NG_001586,AP000907,AP002007,AY425814 pseudo 1344032 PPIHP2 peptidylprolyl isomerase H (cyclophilin H) pseudogene 2 404199 NG_004860,AY425815,AL030995 pseudo 1319281 PPIL1 peptidylprolyl isomerase (cyclophilin)-like 1 This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq] 1580863 16595688,20007319,15772761,15489334,14574404,12975309,12477932,11991638,10810093,10072585,9647638,8978786 51645 CR592464,CR611473,AF090992,AL122034,CH471081,CQ756576,Z85996,AF151882,AK026636,AY359032,BC003048,BU195579,CR590050,CR590493,CR591101,NM_016059 Q9Y3C6,ABM83439,ABM86653,NP_057143,CAI23296,EAX03916,EAX03917,EAX03918,CAF32598,CAI20894,AAD34119,AAQ89391,AAH03048 Hs.27693 CGI-124|CYPL1|MGC678|PPIase|hCyPX cyclophilin-related gene 1|peptidyl-prolyl cis-trans isomerase|peptidyl-prolyl cis-trans isomerase-like 1|rotamase PPIL1 protein-coding 1346840 PPIL1P1 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 9847074 150947 NG_001555,AC011742 pseudo 1319848 PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,11435423,15946952,8660300,16344560,15489334,15461802,14702039,12477932,10591208,8889548,15189447,19669607 23759 U37220,U37221,NM_148175,NM_148176,AP000553,CH471095,AA743164,AF320072,AK097249,AK127259,AK289545,AK299206,AL702046,BC000022,BC028385,BM981665,CR456548,CR600614,CR605739,CR611119,DA863607,NM_014337,U37219 AAC50376,AAC50377,AAC50378,Q13356,Q9BZH8,CAK54579,CAK54878,ABM82585,ABM85772,NP_055152,NP_680480,NP_680481,EAW59469,EAW59470,EAW59471,EAW59472,EAW59473,EAW59474,EAW59475,EAW59476,AAK07635,BAF82234,BAG61246,AAH00022,AAH28385,CAG30434 Hs.438587 CYC4|CYP60|Cyp-60|FLJ39930|MGC33174|MGC787|hCyP-60 PPIase|cyclophilin, 60kDa|cyclophilin-60|cyclophilin-like protein CyP-60|peptidyl-prolyl cis-trans isomerase-like 2|peptidylprolyl cis-trans isomerase|rotamase PPIL2 protein-coding 1350391 PPIL3 peptidylprolyl isomerase (cyclophilin)-like 3 This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1302302 18474220,16510998,16189514,15989758,15815621,15735342,15489334,14702039,12477932,11991638,11435694,20379614 1302302 53938 NM_032472,NM_130906,AC005037,CH471063,AF146799,AF251049,AF271652,AF414127,AK297804,AY257468,BC007693,BC031679,CB961908 NP_115861,NP_570981,AAY14723,EAW70220,EAW70221,EAW70222,EAW70223,AAO64723,AAK34939,AAG44766,AAP97286,BAG60142,AAP13527,AAH07693,Q86UR0,Q9H2H8 Hs.121076 CYPJ OTTHUMP00000206157|OTTHUMP00000206158|OTTHUMP00000206160|OTTHUMP00000206161|PPIase|PPIase-like protein 3|cyclophilin J|cyclophilin-like protein 3|cyclophilin-like protein PPIL3|peptidyl-prolyl cis-trans isomerase-like 3|peptidylprolyl cis-trans isomerase-like protein 3|rotamase PPIL3 protein-coding 1322302 PPIL4 peptidylprolyl isomerase (cyclophilin)-like 4 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq] 17081983,15489334,15231748,14702039,14574404,12747765,12477932,11978968,19615732 85313 NM_139126,AL078581,AL357619,CH471051,AF068298,AF308286,AF357880,AK092069,AK315388,BC016984,BC020986,BC064134,BC107684,BX537536,CR613874 NP_624311,CAI19508,CAI16470,CAI16471,EAW47799,EAW47800,AAF65187,AAG48254,AAM63961,BAG52476,BAG37781,AAH16984,AAH20986,AAH64134,AAI07685,CAD97776,Q32Q83,Q6P392,Q8WUA2,Q96AL2,Q9H287,Q9P1R3,ACT64498,ACT64499 Hs.726494 HDCME13P PPIase|cyclophilin-like protein PPIL4|cyclophilin-type peptidyl-prolyl cis-trans isomerase|peptidyl-prolyl cis-trans isomerase-like 4|rotamase PPIL4|serologically defined breast cancer antigen NY-BR-18 protein-coding 1322717 PPIL5 peptidylprolyl isomerase (cyclophilin)-like 5 The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 21074724,15489334,12477932,11804328,19615732 122769 NM_203467,AL139099,CH471078,AA742244,AK293156,AY052405,BC030142,BC064133,BC093697,BC107888,BC112241,BC139921,BI825814,NM_152329,BI826606,BI829295,BQ059807,BX248298,BX648029,CR604479,CR605212,CR607581,CR607686,CR611296 NP_689542,NP_982292,EAW65761,EAW65762,EAW65763,EAW65764,BAG56701,AAL11430,AAH30142,AAH64133,AAH93697,AAI07889,AAI12242,AAI39922,CAD62625,CAH10374,Q32Q17,Q6AWA7,Q6P393,Q96L50,AAI46426,AAI48860,ABM83195,ABM86396 Hs.451090 4-1BBLRR|LRR-1|MGC20689 4-1BB-mediated signaling molecule|4-1BB-mediated-signaling molecule|LRR-repeat protein 1|cyclophilin-like 5|peptidylprolyl isomerase (cyclophilin) like 5|peptidylprolyl isomerase (cyclophilin)-like 5, isoform 3|peptidylprolyl isomerase-like 5 protein-coding 1352974 PPIL6 peptidylprolyl isomerase (cyclophilin)-like 6 1580863 18391951,15489334,14574404,12477932 285755 NM_001111298,AL109947,AL359711,CH471051,AI052546,AK293674,AK315790,BC026359,BC026360,BC038716,BQ012747,DC419072,DQ363562,DQ423529,NM_173672 NP_775943,NP_001104768,CAI23335,CAI40695,EAW48347,BAG57117,BAG38136,AAH26359,AAH26360,AAH38716,ABC88651,ABD83948,Q5TED2,CAI23337,Q8IXY8,Q8TAE1,CAI40697 Hs.32234 MGC27054|MGC27056|MGC41939|RSPH12|bA425D10.6|dJ919F19.1 OTTHUMP00000034763|PPIase|cyclophilin-like protein PPIL6|peptidyl-prolyl cis-trans isomerase-like 6|peptidyl-prolyl cis-trans isomerase-like variant a|radial spoke 12 homolog|rotamase PPIL6 protein-coding 1345594 PPIP2 peptidylprolyl isomerase (cyclophilin) pseudogene 2 2197089 5484 1313581 PPL periplakin The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq] 1580863 12244133,9521878,17662978,16565220,16400690,15654952,15590649,15500642,15302935,15229321,15033990,12810704,12477932,12432088,12366696,11854008,11062259,10379702,10051401,9628581,9570964,9412476,8889548,14625392,15337775,12853457,12176997,15231748,16713569,18820940,19211270,20379614,20468064 5493 NM_002705,AC027687,AF040999,AF041000,AF013717,AK295623,AW582622,BC114620,BM673980,AF041001,AF041002,AF041003,AF041004,CH471112,AB011140,AF001691,CS673510,CS690893,FB665646,GM706858 NP_002696,AAD17459,AAC39668,BAH12130,AAI14621,O60437,EAW85248,BAA25494,AAC17738,CAP07522,CAP11490,CAR97104,CAT82362 Hs.192233 KIAA0568|MGC134872 190 kDa paraneoplastic pemphigus antigen|195 kDa cornified envelope precursor protein|periplakin protein-coding 731572 PPM1A protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 1311954,12761501,10644691,18930133,18829461,18482992,17729405,17620599,17353931,16931515,16751101,16541025,16344560,15728831,15489334,15016818,14702039,14663150,12514180,12477932,11959144,11479720,10580002,10480873,10400656,9707433,9003755,8386634,16712791,19404668,20379614,20970119 5494 BQ876369,CA427296,CB156710,CR596529,CR604498,CR610726,DA439296,S87759,NM_177952,NM_021003,NM_177951,AL132778,AL157756,CH471061,AB451247,AB451371,AF070670,AI076736,AK097843,AK124299,AK308225,AK313337,AY236965,BC026691,BC063243,BF511118 AAB21784,P35813,Q5JB49,ABM82692,ABM85876,NP_808821,NP_066283,NP_808820,EAW80774,EAW80775,EAW80776,EAW80777,BAG70061,BAG70185,AAC28354,BAG36141,AAQ20086,AAH26691,AAH63243 Hs.130036 FLJ42306|MGC9201|PP2C-ALPHA|PP2CA|PP2Calpha phosphatase 2C alpha|protein phosphatase 1A|protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform|protein phosphatase 1a, magnesium dependent, alpha isoform|protein phosphatase 2C alpha isoform|protein phosphatase 2C isoform alpha|protein phosphatase IA protein-coding 3461318 PPM1AP1 protein phosphatase, Mg2+/Mn2+ dependent 1A, pseudogene 1 137012 AC019292,NG_002692 pseudo 733846 PPM1B protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq] 1580863 17207965,17353931,17620599,9684878,18930133,18829461,15913950,15489334,14702039,14585847,12477932,12045112,11563908,11524703,11104763,10934208,10580002,10480873,16884686,20379614 5495 NM_177968,NM_001033557,NM_002706,NM_177969,NM_001033556,NG_011678,AC013717,AC019129,CH471053,AA769851,AF136972,AF294792,AJ005801,AJ271832,AJ271835,AK056009,AK291214,AL833035,BC012002,BC064381,BF979498,BQ773881,CR617365,DQ023508,DQ023509,DQ023510,DQ023511 NP_808907,NP_001028729,NP_002697,NP_808908,NP_001028728,AAX88954,ADQ33189,EAX00281,EAX00282,EAX00283,AAG49433,AAG02232,CAA06704,CAC27992,CAC27993,BAG51602,BAF83903,CAH56319,EAX00280,AAH12002,AAH64381,AAY89639,AAY89640,AAY89641,AAY89642,O75688,Q4J6C0,Q4J6C1,Q4J6C2,Q658R4,Q96ER6 Hs.416769 MGC21657|PP2C-beta-X|PP2CB|PP2CBETA|PPC2BETAX OTTHUMP00000202395|OTTHUMP00000202397|OTTHUMP00000202398|PP2C-beta|protein phosphatase 1B|protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform|protein phosphatase 1b, magnesium dependent, beta isoform|protein phosphatase 2C isoform beta|protein phosphatase 2C-like protein protein-coding 1313498 PPM1D protein phosphatase 1D magnesium-dependent, delta isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq] 1580863,1599171 17936559,9177166,19435816,19377466,19015127,18991770,18845566,18482988,18328948,17977650,17939684,17685927,17016428,16949371,16936775,16912047,16897432,16798742,16352595,16314645,16311512,16254685,15870257,15807522,15489334,15327777,15054481,12878157,12477932,12185196,12021785,12021784,11809801,11101529,11101524,7649987,7566098,20543821,20367961,20668064,19713933,20007970,20093361,20101220,20118229,20379614 1599171 8493 NM_003620,AC011921,AC110602,AC111155,CH471179,AA326266,AK299773,AK312902,AU280469,BC016480,BC032826,BC033893,BC042418,BC060877,BT009780,CR618625,U78305,NG_023265,BU616782 NP_003611,EAW51408,EAW51409,BAG61656,BAG35748,AAH16480,AAH33893,AAH42418,AAH60877,AAP88782,AAB61637,O15297,Q6P991,Q8IVR6,Q8NEA7,ABM81973,ABW03353 Hs.591184,Hs.286073 PP2C-DELTA|WIP1 p53-induced protein phosphatase 1|protein phosphatase 1D|protein phosphatase 1D magnesium-dependent, delta isoform|protein phosphatase 2C delta isoform|protein phosphatase 2C isoform delta|protein phosphatase Wip1|protein phosphatase magnesium-dependent 1 delta|wild-type p53-induced phosphatase 1 protein-coding 1350294 PPM1E protein phosphatase 1E (PP2C domain containing) The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase was identified as an interacting protein of Rho guanine nucleotide exchange factors (PIX). PIX proteins are regulators of p21/Cdc42/Rac1-activated kinase 1 (PAK1), a protein kinase mediating biological effects downstream of Rho GTPases. This phosphatase has been shown to block the effects of PAK, and thus inhibit actin stress fiber breakdown and morphological changes driven by cell division cycle 42 (CDC42). [provided by RefSeq] 1580863 17903297,15680915,11864573,10470851,11726284,12477932,15496589,18029348 22843 NM_014906,AC025521,AC100832,CH471109,AB028995,AF260269,AF520614,AK289966,BC136290,BC143845,BC151228,CR749253 NP_055721,EAW94429,BAA83024,AAF70325,AAM76058,BAF82655,AAI36291,AAI51229,CAH18109,Q8WY54 Hs.245044 CaMKP-N|DKFZp781F1422|KIAA1072|POPX1|PP2CH ca(2+)/calmodulin-dependent protein kinase phosphatase N|caMKN|caMKP-nucleus|nuclear calmodulin-dependent protein kinase phosphatase|partner of PIX 1|partner of PIX-alpha|partner of PIXA|protein phosphatase 1E|protein phosphatase 1E (PP2C domain containing) protein-coding 737169 PPM1F protein phosphatase 1F (PP2C domain containing) The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. 1580863 16344560,15140879,12539042,12477932,11864573,11559703,9074928,7584028,7584026,16169070,10348902,18839057,20016286,20379614 9647 AP000555,CH471095,D86995,AF305840,AF520615,AK126377,AK291628,AU127806,BC071989,BC105599,CA425300,CR601797,CR617100,CR625942,D13640,NM_014634,AK294557,DA311634,N34773 NP_055449,EAW59483,EAW59484,EAW59485,BAA19990,AAL15579,AAM76059,BAG54318,BAF84317,AAH71989,AAI05600,BAA02803,P49593,Q0VGL7,Q6IPC0,ACE87124,ACE86448,BAH11809 Hs.112728 CAMKP|CaMKPase|FEM-2|KIAA0015|POPX2|hFEM-2 Ca(2+)/calmodulin-dependent protein kinase phosphatase|CaM-kinase phosphatase|OTTHUMP00000198593|OTTHUMP00000198594|PP2C phosphatase|partner of PIX 2|protein fem-2 homolog|protein phosphatase 1F|protein phosphatase 1F (PP2C domain containing) protein-coding 732734 PPM1G protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1580863 9276438,9271424,17984321,17572683,17074886,17054950,15489334,14663150,12477932,9887102,16169070,17215244,19538940,19615732,20468071 5496 NM_177983,AC074117,CH471053,AB209197,AI623188,AI879284,AK127593,AK293141,AK312455,BC000057,BC007361,BC014386,BC015048,BC022061,BT007454,CR457059,CR605593,CR609632,Y13936 CAA74245,O15355,Q59GB2,Q6IAU5,Q6PJK3,Q96IN7,ABM83076,ABM86272,NP_817092,AAY14846,EAX00582,BAD92434,BAG54530,BAG56689,BAG35362,AAH00057,AAH07361,AAH14386,AAH22061,AAP36122,CAG33340 Hs.643951 MGC1675|MGC2870|PP2CG|PP2CGAMMA|PPP2CG PP2C, gamma|PP2C-gamma|protein phosphatase 1C|protein phosphatase 1G|protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform|protein phosphatase 2, catalytic subunit, gamma isoform|protein phosphatase 2C gamma isoform|protein phosphatase 2C isoform gamma|protein phosphatase magnesium-dependent 1 gamma protein-coding 1319913 PPM1H protein phosphatase 1H (PP2C domain containing) 1580863 18059182,16344560,14702039,12477932,10574461,20659327,20732627,20966902,20379614,9770338 57460 AC023359,AC025264,AC048341,AC078814,CH471054,AB032983,AB084258,AK023315,BC040177,BC157843,DA396561,NM_020700 EAW97112,BAA86471,BAG16181,AAI57844,Q9ULR3,AAI60095,NP_065751 Hs.435479 ARHCL1|FLJ13253|KIAA1157|NERPP-2C|URCC2 neurite extension-related protein phosphatase related to PP2C|protein phosphatase 1H|protein phosphatase 1H (PP2C domain containing)|ras homolog gene family, member C like 1 protein-coding 1603861 PPM1J protein phosphatase 1J (PP2C domain containing) This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq] 14702039,14654243,12633878,12477932,11007961,2557326,20379614 333926 NM_005167,AL603832,AB451327,AB451471,AK093270,AL133644,AL545356,BC011803,BC064628,BC073828,CR613350 NP_005158,CAI14062,BAG70141,BAG70285,BAG52679,CAB63764,AAH11803,AAH73828,Q5JR12,ACE87514,ACE86828 Hs.655231 DKFZp434P1514|FLJ35951|MGC19531|MGC90149|PP2CZ|PP2Czeta|PPP2CZ|RP11-426L16.5 PP2C-zeta|protein phosphatase 1J|protein phosphatase 1J (PP2C domain containing)|protein phosphatase 2C isoform zeta|protein phosphatase 2C zeta|protein phosphatase 2a, catalytic subunit, zeta isoform protein-coding 1353112 PPM1K protein phosphatase 1K (PP2C domain containing) 737633 14702039,12477932,9847074,17336929,18987618,18846501,17374715,16685424,15815621,15489334,18029348,20877624,17207965 737633 152926 NM_152542,AC107067,AC108213,CH471057,AF351614,AK054678,AK314417,AL834167,AL834271,AY157615,AY435431,AY994097,BC020850,BC037552,BC041350 NP_689755,AAY41021,EAX06014,EAX06015,EAX06016,AAN76514,BAB70790,BAG37038,CAD38869,CAD38946,AAO17296,AAR06213,AAX77016,AAH20850,AAH37552,AAH41350,Q8N3J5,ADQ32298 Hs.291000 DKFZp667B084|DKFZp761G058|PP2Ckappa|PP2Cm|PTMP|UG0882E07|hPTMP OTTHUMP00000219606|PP2C domain-containing protein phosphatase 1K|PP2C type mitochondrial phosphatase|PP2C-kappa|PP2C-like mitochondrial protein|PP2C-like protein|PP2C-type mitochondrial phosphoprotein phosphatase|protein phosphatase 1K (PP2C domain containing)|protein phosphatase 1K, mitochondrial|protein phosphatase 2C isoform kappa|protein phosphatase 2C kappa protein-coding 1313118 PPM1L protein phosphatase 1 (formerly 2C)-like PPM1L, or PP2CE, belongs to the PP2C group of serine/threonine phosphatases, which are distinguished from other phosphatases by their structure, absolute requirement for Mg(2+) or Mn(2+), and insensitivity to okadaic acid. PP2Cs regulate stress-activated protein kinase (SAPK; see MIM 601158) signaling cascades that respond to extracellular stimuli (Jin et al., 2004 [PubMed 15560375]).[supplied by OMIM] 16895911,19847890,20379614,19240061,18165232,17456047,15560375,14702039,12556533,12477932 151742 NM_139245,AC016920,AC021649,AC069224,AC117413,CH471052,AK055115,AY337264,BC090872,BC104885,BC104887,BC110801 NP_640338,EAW78626,BAB70856,AAR00269,AAI04886,AAI04888,Q5SGD2 Hs.389027 MGC132545|MGC132547|PP2C-epsilon|PP2CE|PPM1-LIKE OTTHUMP00000213920|OTTHUMP00000213921|PP2C epsilon|Protein phosphatase 2C epsilon isoform|protein phosphatase 1 (formerly 2C)-like|protein phosphatase 1-like|protein phosphatase 1L|protein phosphatase 2C isoform epsilon protein-coding 1602186 PPM1M protein phosphatase 1M (PP2C domain containing) 15489334,14702039,14654243,12477932,19594441 132160 NM_144641,NM_001122870,AC006252,CH471055,AB474372,AI141068,AK056894,AK096681,AK129647,AL832484,BC009644,CR601628 NP_653242,NP_001116342,EAW65197,EAW65198,EAW65199,EAW65200,EAW65201,BAH03578,BAB71302,BAC04839,BAC85206,AAH09644,Q96MI6 Hs.373560 FLJ32332|PP2C-eta|PP2CE|PP2Ceta protein phosphatase 1M|protein phosphatase 1M (PP2C domain containing)|protein phosphatase 2C eta|protein phosphatase 2C eta-2|protein phosphatase 2C isoform eta protein-coding 1605082 PPME1 protein phosphatase methylesterase 1 Protein phosphatase methylesterase-1 catalyzes the demethylation of the protein phosphatase-2A catalytic subunit (PPP2CA; MIM 176915) (Ogris et al., 1999 [PubMed 10318862]).[supplied by OMIM] 10318862,19293187,17803990,15489334,14702039,12665801,12477932,9373149,8125298,18782753 51400 AP000577,AP002392,CH471076,AF111853,AF157028,AK001381,AK022725,AK025414,AK025879,AK095005,AK123288,AK225647,BC003046,BC050705,BX537528,CR602501,CR602757,CR609996,CR623535,NM_016147 NP_057231,EAW74932,AAF16692,AAD44976,BAA91661,BAG51108,BAC85574,AAH03046,AAH50705,Q9Y570,ABM83274,ABM86704 Hs.503251 FLJ22226|PME-1 protein phosphatase methylesterase 1|protein phosphatase methylesterase-1 protein-coding 1321506 PPOX protoporphyrinogen oxidase This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 1599172,1599174,1599176,1599180,1580863,1578396,4145363,4145271,4144542,4145281 7713909,8771201,18191920,16947091,16621625,15489334,14702039,14669009,14535846,12922165,12556518,12477932,12357337,12017191,11350188,11298551,11286631,10870850,10756096,10486317,10457135,9811936,9763307,9074790,8806618,8673113,8575762,8554330,8288631,16169070,9003509,8852667,20877624 1599172,1599174,1599176,1599180,4145363,4145271,4144542,4145281 5498 NM_000309,NM_001122764,AF215863,AF215864,AF321821,AL590714,AY032687,AY032688,CH471121,AI357309,AK094855,AK298912,AK302298,AU076582,BC002357,BX384814,CR594122,CR595368,CR604029,CR606372,CR609680,CR611657,CR613738,CR615446,CR618454,CR623872,CR623976,CR625269,D38537,DC329287,U26446,NG_012877 NP_000300,NP_001116236,AAG43994,AAG43995,AAK69607,CAH72144,AAK50376,AAK50375,EAW52635,EAW52636,EAW52637,EAW52638,EAW52639,EAW52640,EAW52641,BAG52942,BAG61019,BAG63638,AAH02357,BAA07538,AAA67690,P50336,Q96RP0,Q96SE3,Q96TC9,Q9H2U7,Q9H2U8,ABM83141,ABM86337 Hs.517373 MGC8485|PPO|V290M|VP protoporphyrinogen oxidase protein-coding 732541 PPP1CA protein phosphatase 1, catalytic subunit, alpha isoform The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 737728,1580722,1580723,2304267,2304325 20516061,17274640,17511879,8392016,19377461,19074462,18992256,18716057,18483222,17630778,17435217,12065664,12052877,12036952,12036313,12024026,11959144,11839776,11588169,11551964,11390485,11076525,10995432,10880350,10827081,10811615,10807923,10571067,10504266,10358086,10087003,9843442,9461602,9282913,9108011,8889548,8384581,7736790,4092695,2161401,16131488,16048649,11101529,10637318,12724406,12016208,11564868,12147701,10209101,12788942,9269769,11799244,10194355,10830164,15761153,14645548,12138106,12115603,17318175,17202132,17030510,16874461,16619035,16564677,16550609,15635413,15492829,15489334,15231748,15107502,14702039,12931191,12926989,12925532,12914669,12788939,12624094,12477932,12438214,12393858,12370081,12226088,12221103,11739654,17374523,17643375,17965019,19094064,19364819,19622840,19710015,19826001,6087160,19919952,20186153,20663907 737728,1580722,1580723,2304267,2304325 5499 CR612914,CR613010,CR614126,CR616429,CR616849,CR618358,CR618441,CR618840,CR620164,CR621844,CR622044,CR623343,CR624648,CR626815,J04759,M63960,S57501,X70848,CR609689,NM_206873,NM_001008709,NM_002708,AP003419,CH471076,AK098311,AK127616,AK313586,AL557336,BC001888,BC004482,BC008010,BE278068,BE793459,BF526659,BG480286,BM799599,BM982080,BT006629,CR593308,CR594209,CR594609,CR595203,CR595463,CR596128,CR598698,CR600679,CR606688,CR607154,CR607708,CR607767,CR609547 AAA36475,AAA36508,AAB26015,CAA50197,P62136,Q07161,NP_996756,NP_001008709,NP_002699,EAW74607,EAW74608,EAW74609,EAW74610,BAG54534,BAG36355,AAH01888,AAH04482,AAH08010,AAP35275 Hs.183994 MGC15877|MGC1674|PP-1A|PP1alpha|PPP1A protein phosphatase 1, catalytic subunit, alpha isoform|serine/threonine protein phosphatase PP1-alpha 1 catalytic subunit|serine/threonine-protein phosphatase PP1-alpha catalytic subunit protein-coding 731669 PPP1CB protein phosphatase 1, catalytic subunit, beta isoform The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 2304267,2304325 11513739,11399775,11230166,11076863,10906760,9570949,9009195,8889548,8312365,7857673,7796987,12775419,16131488,16048649,10194355,10830164,12016208,11564868,12147701,12185196,20516061,16712791,15164081,17274640,17353931,17511879,19377461,19124506,18202305,16381901,16256067,15815621,15489336,15489334,15302935,15231748,14640981,12788939,12665801,12477932,12226088,12036313,11790298,18586956,20186153,10209101 2304267,2304325 5500 NM_206876,NM_002709,AC097724,CH471053,U11005,AF092905,AI147919,AK295957,AK303682,AK312329,AK316532,BC002697,BC012045,BE047402,BI551898,BM835970,BQ933435,BT019744,BU740022,BX477003,BX647295,BX647970,CB111140,CD656807,CD722576,CR542263,CR542285,CR592930,CR593644,CR601128,X80910 NP_996759,NP_002700,AAY24124,EAX00527,EAX00528,EAX00529,EAX00530,AAA85093,AAF01137,BAG58737,BAG64675,BAG35251,BAH14903,AAH02697,AAH12045,AAV38549,CAG47059,CAG47080,CAA56870,P62140,CAL37650 Hs.591571,Hs.702907 MGC3672|PP-1B|PP1beta|PPP1CD OTTHUMP00000200968|protein phosphatase 1, catalytic subunit, beta isoform|protein phosphatase 1, catalytic subunit, delta isoform|protein phosphatase 1-beta|protein phosphatase 1-delta|serine/threonine protein phosphatase PP1-beta catalytic subunit|serine/threonine-protein phosphatase PP1-beta catalytic subunit protein-coding 734001 PPP1CC protein phosphatase 1, catalytic subunit, gamma isoform 2304325,1580863 20516061,9009195,10391935,10194355,11564868,12147701,10880350,19377461,19369647,19074462,18540044,17996206,17936702,17511879,17274640,17215279,16826568,16344560,16343532,16201749,16131488,15635413,15489334,15231748,15028637,14640981,12788939,12477932,12374792,12226088,12221103,12138106,12036313,12016208,11856740,11790298,11588169,11551964,10807923,10637318,9606212,9414128,8914631,8549741,8394140,8111128,7556599,7500362,7499293,16048649,11104670,10830164,19070599,10209101,11739654,17965019 2304325 5501 NM_002710,AB030255,AC144522,CH471054,AK297882,BC014073,CR602534,DA472620,L07395,X74008 NP_002701,BAA82664,EAW97938,EAW97939,EAW97940,BAG60205,AAH14073,AAA19823,CAA52169,P36873,Q9UPN1,ACE87434,ACE86748 Hs.79081 PP1gamma|PPP1G PP-1G|protein phosphatase 1, catalytic subunit, gamma isoform|protein phosphatase 1C catalytic subunit|serine/threonine phosphatase 1 gamma|serine/threonine-protein phosphatase PP1-gamma catalytic subunit protein-coding 732967 PPP1R10 protein phosphatase 1, regulatory (inhibitor) subunit 10 This gene encodes a protein with similarity to a rat protein that has an inhibitory effect on protein phosphatase-1 (PP1). The rat protein localizes to the nucleus and colocalizes with chromatin at distinct phases during mitosis. This gene lies within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq] 633715 20516061,9461602,19429178,19293638,18360108,17318220,17081983,16964243,15907195,15894402,15231748,14574404,12914669,12574161,12477932,9784381,9450550,8838313,10637318,20372802,19851445 633715 5514 AB088097,AB103603,AB202094,AL662800,AL662825,BA000025,BX119957,BX248507,BX908728,CH471081,CR753328,CR759778,AJ544537,AK307406,BC005267,BC136294,BC150310,Y13247,NM_002714 Q58F28,Q96QC0,NP_002705,BAC54929,BAF31264,BAE78613,CAI18160,CAI17838,BAB63324,CAM25909,CAI18567,CAQ07410,EAX03303,CAP58451,CAQ09403,CAD67521,AAH05267,AAI36295,CAA73697,Q2L6I0 Hs.106019 CAT53|FB19|PNUTS|PP1R10 MHC class I region proline-rich protein CAT53|PP1-binding protein of 114 kDa|p99|phosphatase 1 nuclear targeting subunit|phosphatase nuclear targeting subunit|protein phosphatase 1 regulatory subunit 10|protein phosphatase 1, regulatory subunit 10|putative protein phosphatase 1 nuclear targeting subunit|serine/threonine-protein phosphatase 1 regulatory subunit 10 protein-coding 1344877 PPP1R10P protein phosphatase 1, regulatory (inhibitor) subunit 10 pseudogene 11948623 94296 1350582 PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11 This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq] 1580863 17353931,9843442,18951879,18450750,17630778,17081983,15592455,15489334,14574404,12477932,9110174,8781118,8619474,8490624,7782091,19851445,8938444,16712791 6992 CR388205,CR759763,CR759960,U53588,X89902,AF070599,AK310593,AK313175,BC003144,BC102010,BC102011,BC104750,CB126242,CR625861,X81003,NM_021959,AB088087,AB202082,AL669914,AL671859,AL845439,BA000025,BX088647,BX927229,CH471081 EAX03254,CAQ06750,CAQ08160,CAQ09121,AAC52082,CAC16919,BAG35992,AAH03144,AAI02011,AAI02012,AAI04751,CAC16920,O60927,Q5SRK2,EAX03253,NP_068778,BAC54919,BAE78601,CAI18177,CAI18178,CAI17578,CAI17579,CAI18539,CAI18542,BAB63334,CAQ10493 Hs.82887 HCG-V|HCGV|IPP3|MGC125741|MGC125742|MGC125743|TCTE5|TCTEX5 HCG V|hemochromatosis candidate gene V protein|inhibitor-3|protein phosphatase 1 regulatory subunit 11|protein phosphatase 1, regulatory (inhibitor) subunit 11, isoform 1|protein phosphatase inhibitor 3|t-complex-associated-testis-expressed 5 protein-coding 1349677 PPP1R11P1 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 11948623 94297 1345523 PPP1R11P2 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 11948623 94298 NG_009575,Z83745 pseudo 1350163 PPP1R12A protein phosphatase 1, regulatory (inhibitor) subunit 12A Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17353931,17474147,19167335,8662509,19245366,18776185,18755268,18477460,18079119,18023418,17904578,17081983,15999227,15748895,15723050,15570572,15545284,15489334,15324660,15144186,14702039,12923170,12773565,12600888,12563012,12477932,12220642,11931630,11342221,11287000,11283607,11067852,10601309,10567269,10200412,10087910,9354661,9286714,9200713,1870098,880069,19531490,19701943,19744480,20379614,20202976,20634291,20689807,20801872 4659 NM_001143885,NM_002480,NM_001143886,AB042196,AC018476,AC073569,AC074270,CH471054,AF086032,AF458589,AK057712,AK302692,AK314193,AY380574,BC000812,BC013941,BC040375,BC047898,BC062560,BC092481,BC111752,D87930,DC350703 NP_001137357,NP_002471,NP_001137358,BAB39107,EAW97351,EAW97352,EAW97353,EAW97354,EAW97355,EAW97356,BAG63921,BAG36872,AAQ88438,AAH13941,AAH47898,AAH92481,AAI11753,BAA22378,O14974,Q96L23,AAM49717 Hs.49582 MBS|MGC133042|MYPT1 myosin phosphatase, target subunit 1|myosin phosphatase-targeting subunit 1|protein phosphatase 1 regulatory subunit 12A|protein phosphatase myosin-binding subunit protein-coding 1319551 PPP1R12B protein phosphatase 1, regulatory (inhibitor) subunit 12B Myosin light chain phosphatase (MLCP) consists of three subunits- catalytic subunit, large subunit/myosin binding subunit (MBS) and small subunit (sm-M20). This gene is a multi-functional gene which encodes both MBS and sm-M20. MLCP regulates myosins and the dephosphorylation is enhanced by the presence of MBS. The sm-M20 is suggested to play a regulatory role in muscle contraction by binding to MBS. MBS is also encoded by another gene, myosin light chain phosphatase target subunit 1. sm-M20 shows higher binding affinity to this gene product than to myosin light chain phosphatase target subunit 2-MBS even though the two MBS proteins are highly similar. Although both MBSs increase the activity of MLCP, myosin light chain phosphatase target subunit 1-MBS is a more efficient activator. There are four alternatively spliced transcript variants described; two alter the MBS coding region and two alter the sm-M20 coding region of this gene. [provided by RefSeq] 1580863 9570949,18782776,16710414,16431080,15489334,12923170,12477932,11067852,10200412,10087910,9827534,9455484,10567269,9269769,20801872,14702039,16344560,19851296,20198315,20379614 4660 NM_002481,NM_032104,NM_032103,AC099336,AF324892,AL356953,AL589762,CH471067,AB003062,AB007972,AB050641,AB050642,AF324888,AK307591,AL049388,AL050133,AL117460,BC034430,BC071166,BC110907,BC144699,CR603869,CR606535,CR610980,AK098261,BX501884,DA075060,NM_001167857,NM_001167858,AB588820,NM_001197131 NP_002472,NP_115287,NP_115286,AAK00336,CAI15934,CAI15935,CAH73374,CAH73375,EAW91416,EAW91417,EAW91418,EAW91419,EAW91420,EAW91421,EAW91422,EAW91423,EAW91424,EAW91425,BAA28376,BAB17610,BAB17611,AAK00337,AAH34430,AAH71166,AAI10908,AAI44700,O60237,Q2TAI8,Q6GQY8,NP_001161329,NP_001161330,BAJ22080,NP_001184060 Hs.444403 FLJ40942|MGC131980|MGC87886|MYPT2 myosin phosphatase target subunit 2|myosin phosphatase, target subunit 2|myosin phosphatase-targeting subunit 2|protein phosphatase 1 regulatory subunit 12B protein-coding 1603486 PPP1R12BP protein phosphatase 1, regulatory (inhibitor) subunit 12B Y-linked pseudogene 12815422 360021 NG_004755,AC024067 PPP1R12BP|PPP1R12BPY1 pseudo 2881601 PPP1R12BP2 protein phosphatase 1, regulatory (inhibitor) subunit 12B Y-linked pseudogene 2 12815422 360020 AC006983,NG_004755 pseudo 1343542 PPP1R12C protein phosphatase 1, regulatory (inhibitor) subunit 12C 14506264,12923170,12477932,11399775,10941842,16169070,15469989,16243315 54776 NM_017607,AC005782,AC010327,CH471135,AB209452,AF211968,AF312028,AK027086,AK129529,AK297187,AK297426,AL137618,BC008030,BC010628 NP_060077,EAW72332,EAW72333,EAW72334,EAW72335,BAD92689,AAG60045,BAB15651,BAC85179,BAG59676,BAG59854,CAB70844,AAH08030,Q9BZL4,AAI56296 Hs.631579 DKFZp434D0412|LENG3|MBS85|p84 leukocyte receptor cluster (LRC) encoded novel gene 3|leukocyte receptor cluster (LRC) member 3|myosin-binding subunit 85|protein phosphatase 1 myosin-binding subunit of 85 kDa|protein phosphatase 1 myosin-binding subunit p85|protein phosphatase 1 regulatory subunit 12C protein-coding 1351604 PPP1R12CP protein phosphatase 1, regulatory (inhibitor) subunit 12C pseudogene 11948623 114239 1345826 PPP1R13AP protein phosphatase 1, regulatory (inhibitor) subunit 13A pseudogene 11948623 94299 1312214 PPP1R13B protein phosphatase 1, regulatory (inhibitor) subunit 13B This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq] 1580863 11684014,14729977,15782125,14702039,12508121,12477932,9872452,15706352,20936779,16314841,15231748,16139958,15757645,15731768,20601096,18029348,20034025,20379614 23368 NM_015316,AL049840,AL132712,CH471061,AB018314,AJ318887,AK021580,AK023188,AK125374,AK125913,AK307149,AW295594,BC035446,BC047639,BC136527,CR621089,DB461586 NP_056131,EAW81845,EAW81846,EAW81847,BAA34491,CAC83011,BAG51166,BAC86342,AAI36528,Q6ZU84,Q96KQ4 Hs.709297 ASPP1|KIAA0771|p53BP2-like|p85 apoptosis-stimulating of p53 protein 1|apoptosis-stimulating protein of p53, 1|protein phosphatase 1 regulatory subunit 13B protein-coding 1347285 PPP1R13L protein phosphatase 1, regulatory (inhibitor) subunit 13 like IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM] 10336463,19257887,19246451,19116388,18798069,18588689,18289367,18275817,18201273,17906639,17872376,17570360,17391696,17222938,17131345,17081983,16964264,16964243,16817948,16690207,16344560,16139958,15885892,15661756,15607367,15489900,15489334,15231748,12524540,12477932,12134007,15558054,19692168,19734419,19773279,20354815,21046104 10848 NM_001142502,NM_006663,AC092309,CH471126,DQ314886,AF078036,AF078037,AJ888472,AK130326,AY869712,BC001475,BC014499,BC020259,BC020589,BC032298,BC064913,DB209153,DQ986418 NP_001135974,NP_006654,EAW57343,EAW57344,EAW57345,ABC40745,AAD27004,AAD27005,CAI60219,BAC85327,AAW51146,AAH01475,AAH20589,AAH32298,AAH64913,ABK76301,Q6ZNZ8,Q8WUF5 Hs.466937 IASPP|NKIP1|RAI NFkB interacting protein 1|NFkB-interacting protein 1|PPP1R13B-like protein|inhibitor of ASPP protein|inhibitor of apoptosis stimulating protein of p53|protein iASPP|protein phosphatase 1, regulatory subunit 13 like|relA-associated inhibitor protein-coding 733523 PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A PPP1R14A is a phosphorylation-dependent inhibitor of smooth muscle myosin phosphatase (see MIM 603768). Inhibition leads to increased myosin phosphorylation and enhances smooth muscle contraction in the absence of increased intracellular Ca(2+) concentration.[supplied by OMIM] 18835652,18757304,17301291,17237191,16885985,15489334,15234908,15003508,12974676,12477932,12062430,11931393,11467857,10924361,10869555,9237662,8720121,20875397,20202976,18482256 94274 NM_033256,AY050670,BC021089,CR623926,AC011479,AY050668,CH471126,AB056508,AB056509,AF123763 AAL25828,AAH21089,Q96A00,ABM83056,ABM86250,NP_150281,AAL24445,EAW56764,EAW56765,BAB62502,BAB62503,AAP97242 Hs.631569 CPI-17|CPI17|PPP1INL 17 kDa PKC-potentiated inhibitory protein of PP1|17-KDa protein|17-kDa PKC-potentiated inhibitory protein of PP1|PKC-potentiated inhibitory protein of PP1|protein kinase C-potentiated inhibitor protein of 17 kDa|protein phosphatase 1 regulatory subunit 14A protein-coding 1344402 PPP1R14B protein phosphatase 1, regulatory (inhibitor) subunit 14B 1580863 19913121,20628086,16964243,16341674,15522888,15489334,15083373,12477932,10737800,10606530,8838322 26472 NM_138689,AP001453,CH471076,X91192,AF318364,BC014522,BC071884,BC094817,BF155230,BM847221,BT009914,X91195 NP_619634,EAW74226,EAW74227,AAL55871,AAH14522,AAH94817,AAP88916,Q8WYT7,Q96C90,ACE87699,ACE87010 Hs.523760,Hs.596713 PHI-1|PLCB3N|PNG|SOM172 phospholipase C beta-3 neighboring gene protein|phospholipase C-beta-3 neighbouring gene protein|protein phosphatase 1 regulatory subunit 14B protein-coding 1353719 PPP1R14BP1 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 12477932,9556220 50516 NG_001274,AC002073,AF030942 PLCB3NP pseudo 1345421 PPP1R14BP2 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 2 11948623 94300 1348636 PPP1R14BP3 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 3 11948623 94301 1352099 PPP1R14BP4 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 11948623 94302 1342970 PPP1R14BP5 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 11948623 94303 735966 PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C 19475667,19132087,15489334,14702039,14574404,12747765,12477932,11948623,11812771,11564868,20592344 81706 NM_030949,AF407166,AL096708,AL138890,AL355497,CH471051,AF308297,AF407165,AK092697,AK096272,BC015773,CB994599,DR003369 NP_112211,AAL83507,CAI19346,CAH74129,EAW47770,EAW47771,AAG48264,AAL83506,AAH15773,Q8TAE6,ABM83123,ABM86318 Hs.486798 CPI17-like|KEPI|NY-BR-81 PKC-potentiated PP1 inhibitory protein|kinase C-enhanced PP1 inhibitor|kinase-enhanced PP1 inhibitor|protein phosphatase 1 regulatory subunit 14C|serologically defined breast cancer antigen NY-BR-81 protein-coding 1350290 PPP1R14D protein phosphatase 1, regulatory (inhibitor) subunit 14D 1580863 15489334,14702039,12974676,12477932,11948623 54866 NM_017726,NM_001130143,AC012476,CH471125,AI963626,AK000258,AY050671,BC096716,BC098124,BC098150,BC098341 NP_060196,NP_001123615,EAW92456,AAL25829,AAH96716,AAH98124,AAH98150,AAH98341,Q4V755,Q9NXH3,BAA91037 Hs.192927 CPI17-like|FLJ20251|GBPI-1|GBPI1|MGC119014|MGC119016 PKC-dependent PP1 inhibitory protein|gastrointestinal and brain-specific PP1-inhibitory protein 1|gut and brain phosphatase inhibitor 1|protein phosphatase 1 regulatory subunit 14D protein-coding 1342864 PPP1R15A protein phosphatase 1, regulatory (inhibitor) subunit 15A This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq] 1580863 11564868,9153226,19131336,18794359,17273797,16455055,16344560,16337513,15541008,15231748,14718519,14702039,14635187,12813455,12724406,12556489,12477932,12168790,12016208,11517336,11104688,10490642,10434033,9413226,9373149,8125298,16169070,19776135,19901557,20040105,20800603,10631107 23645 NM_014330,AC026803,CH471177,AK001361,AK225632,AK296668,AK297615,AK298765,BC003067,CR457259,CR591206,CR620407,CR623507,DA484808,U83981,HI574240 NP_055145,EAW52409,BAA91649,BAG59265,BAG59994,BAG60907,AAH03067,CAG33540,AAC25631,O75807,ABM82781,ABW03442,CBX47609 Hs.631593 GADD34 growth arrest and DNA damage-inducible protein GADD34|growth arrest and DNA-damage-inducible 34|myeloid differentiation primary response protein MyD116 homolog|protein phosphatase 1 regulatory subunit 15A protein-coding 1317432 PPP1R15B protein phosphatase 1, regulatory (inhibitor) subunit 15B 9373149,8125298,15231748,14702039,12477932,11948623,19181853 84919 NM_032833,AL606489,CH471067,AI363360,AK023680,AK027650,AK222877,AK303535,AL833746,BC065280,CR595060 NP_116222,CAI16570,EAW91511,BAB55266,BAD96597,BAG64561,CAH56240,AAH65280,Q5SWA1 Hs.304376 CREP|FLJ14744 protein phosphatase 1 regulatory subunit 15B protein-coding 1317459 PPP1R16A protein phosphatase 1, regulatory (inhibitor) subunit 16A 1580863 18029348,16169070,16920702,16189514,15489334,12477932,11948623,11336659,19019082,19060904 84988 NM_032902,AC084125,CH471162,AK090471,BC007854,BC049841,BC053506,BT006845,CR590987,CR609794 NP_116291,EAW82080,EAW82081,EAW82082,BAC03452,AAH07854,AAH49841,AAH53506,AAP35491,Q96I34 Hs.521937 MGC14333|MYPT3 likley ortholog of mouse myosin phosphatase targeting subunit 3|myosin phosphatase-targeting subunit 3|protein phosphatase 1 regulatory subunit 16A protein-coding 1322272 PPP1R16B protein phosphatase 1, regulatory (inhibitor) subunit 16B The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. [provided by RefSeq] 1580863 12055102,18586956,15491607,12477932,12168954,11780052,10048485,16263087 26051 NM_001172735,NM_015568,AL023803,AL031657,AL121889,CH471077,AB020630,AB177855,AF362910,AK026900,BC026224,BC131801,BC152467,CR610227 NP_001166206,NP_056383,CAI20058,CAI19080,CAM27345,EAW76009,BAA74846,BAD66833,AAK52796,AAI31802,AAI52468,Q5W9G4,Q96T49 Hs.45719 ANKRD4|KIAA0823|TIMAP CAAX box protein TIMAP|OTTHUMP00000178923|TGF-beta-inhibited membrane-associated protein|ankyrin repeat domain protein 4|ankyrin repeat domain-containing protein 4|hTIMAP|protein phosphatase 1 regulatory inhibitor subunit 16B protein-coding 737038 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A 1580863 11564868,8611507,18698139,18192322,15489334,15345721,15342556,12477932,9920093,20628086,19913121 5502 NM_006741,AC079310,CH471054,AK123969,AY063766,BC022470,BM876308,BP211831,CR457003,U48707 NP_006732,EAW96792,BAC85737,AAL48321,AAH22470,CAG33284,AAB02402,Q13522,Q6ZVX3 Hs.505662 I1|IPP1 I-1|IPP-1|inhibitor-1|protein phosphatase 1 regulatory subunit 1A|protein phosphatase inhibitor 1|protein phosphatase inhibitor-1 protein-coding 1342795 PPP1R1AP1 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 11948623 94304 1345017 PPP1R1AP2 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 11948623 94305 1347073 PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B Midbrain dopaminergic neurons play a critical role in multiple brain functions, and abnormal signaling through dopaminergic pathways has been implicated in several major neurologic and psychiatric disorders. One well-studied target for the actions of dopamine is DARPP32. In the densely dopamine- and glutamate-innervated rat caudate-putamen, DARPP32 is expressed in medium-sized spiny neurons (Ouimet and Greengard, 1990 [PubMed 2191086]) that also express dopamine D1 receptors (Walaas and Greengard, 1984 [PubMed 6319627]). The function of DARPP32 seems to be regulated by receptor stimulation. Both dopaminergic and glutamatergic (NMDA) receptor stimulation regulate the extent of DARPP32 phosphorylation, but in opposite directions (Halpain et al., 1990 [PubMed 2153935]). Dopamine D1 receptor stimulation enhances cAMP formation, resulting in the phosphorylation of DARPP32 (Walaas and Greengard, 1984 [PubMed 6319627]); phosphorylated DARPP32 is a potent protein phosphatase-1 (see MIM 176875) inhibitor (Hemmings et al., 1984 [PubMed 6087160]). NMDA receptor stimulation elevates intracellular calcium, which leads to activation of calcineurin and dephosphorylation of phospho-DARPP32, thereby reducing the phosphatase-1 inhibitory activity of DARPP32 (Halpain et al., 1990 [PubMed 2153935]).[supplied by OMIM] 1580863 10604473,19463699,19156168,19124506,19086053,19077115,19059449,19058789,18954090,18808062,18579663,18573638,18470533,18270970,18199533,18058465,18055181,17948899,17695523,17618027,17521792,17492506,17290303,17171661,17117180,17027969,16750903,16061638,15489334,15345721,15188007,15010812,14991576,14702039,14508844,12477932,12124342,11134138,9920093,9373149,9108011,20580047,8125298,8120638,6319627,6087160,2557337,2191086,2153935,1791981,1721636,1663529,16169070,20836878,19301121,19651774,19874574,19897079,20074680,20468064,20483474,6330098,19913121,20628086,21041608 84152 NM_032192,NM_181505,AC087491,AF435975,CH471152,AF233349,AF435972,AF435973,AF435974,AF464196,AK024593,AK123112,AK123950,AK124417,AK127542,AK129537,AK225058,AY070271,BC001519,BT007076,BX648641,CR606470,CR621995,CS566124 NP_115568,NP_852606,AAP35097,AAP35098,EAW60580,EAW60581,EAW60582,EAW60583,AAF43435,AAP35094,AAP35095,AAP35096,AAM76683,BAB14931,BAG53871,BAG54520,AAL59016,AAH01519,AAP35739,Q9NNW1,Q9UD71,CAN37612 Hs.286192 DARPP-32|DARPP32|FLJ20940 OTTHUMP00000164275|OTTHUMP00000164276|dopamine and cAMP regulated phosphoprotein|dopamine and cAMP-regulated neuronal phosphoprotein 32|dopamine- and cAMP-regulated neuronal phosphoprotein|protein phosphatase 1 regulatory subunit 1B|protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32) protein-coding 1351328 PPP1R1C protein phosphatase 1, regulatory (inhibitor) subunit 1C 1580863 18310074,12477932,11948623,19874272,20379614,20468071 151242 NM_001080545,AC009962,AC011291,AC064837,CH471058,AF494535,AK129898,AK311571,BC017943,BX647581,CR600208 NP_001074014,AAY14914,AAY24129,EAX10976,EAX10977,AAM18054,AAH17943,CAI46089,Q53SA3,Q53TF4,Q8WVI7 Hs.10941 IPP5 Inhibitor-1-like|PP1 inhibitor protein 5|inhibitor-5 of protein phosphatase 1|protein phosphatase 1 regulatory subunit 1A|protein phosphatase 1 regulatory subunit 1C protein-coding 1343622 PPP1R2 protein phosphatase 1, regulatory (inhibitor) subunit 2 1580863 12393858,8119416,9126490,19036150,18716057,17081983,16987514,16627625,15489334,15302935,12761178,12697755,12665801,12477932,12270929,12221103,11320080,10807923,9405437,8288648,7949733,17353931,17207965 5504 NM_006241,AC091633,CH471052,U68111,AA259068,AJ133812,AY063767,BC007655,BC066921,CR619030,CR622597,X78873,Y13810,Z29646 NP_006232,EAW78025,AAC51206,CAB41680,AAL48322,AAH07655,AAH66921,CAA55475,CAA82754,P41236,Q6NXS2,ADQ32784 Hs.535731 IPP2|MGC87148 IPP-2|OTTHUMP00000208849|phosphatase inhibitor 2|phosphoprotein phosphatase|protein phosphatase inhibitor 2 1643250,1643508,2314773 BW134_H,BW262_H,GLUCO107_H protein-coding 1353440 PPP1R2P1 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 11696978,8568858,7949733,11181995 100507444 AL669918,AL671681,AL935043,X87344,AF275684,NG_027882,XM_003118554,XM_003119095,XM_003119223,XM_003119270,XM_003119302,XM_003119333,XM_003119389,XM_003119435,XM_003120001,XM_003120520,BX088556,BX927138,CH471081,CR752645,CR759798,CR936913 AAL09300,Q96PQ5,XP_003118602,XP_003119143,XP_003119271,XP_003119318,XP_003119350,XP_003119381,XP_003119437,XP_003119483,XP_003120049,XP_003120568,EAX03655 Hs.654585 IPP-2P|PPP1R2P pseudo 1344138 PPP1R2P2 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 10830953 54036 NG_000913,AF020802 pseudo 1344126 PPP1R2P3 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 15489334,12477932,11948623,7949733 153743 NR_002168,AC008491,AC011414,BC066922 Q6NXS1 Hs.567727 MGC87149 pseudo 1346291 PPP1R2P4 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 4 11948623 728970 NG_011458,AL138686 pseudo 1348869 PPP1R2P5 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 5 11948623 94307 1351514 PPP1R2P6 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6 11948623 94308 1352861 PPP1R2P7 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 7 11948623 94309 1343404 PPP1R2P8 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 8 11948623 94310 1345869 PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9 1580863 11076525,15772651,15489334,12477932,11948623,11883959,7949733 80316 NR_002191,CH471141,Z94277,AB044137,BC056673 EAW59387,BAB18974,O14990 Hs.127689 I-4 pseudo 1343572 PPP1R3A protein phosphatase 1, regulatory (inhibitor) subunit 3A The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq] 2311596,2304325,2311552,2311515,2311532,2311560,2311531,2311405,2311445,1601468,1601469,1601446,1580863 19056482,18232732,17081983,16276364,15870946,15489334,15231141,15181086,14767904,12941760,12853948,12690205,12477932,12185156,12118251,11793847,11512679,11076863,10648825,9845327,9726244,7926294,7581368,2558013,17511879,19578796 2311596,2304325,2311552,2311515,2311532,2311560,2311531,2311405,2311445,1601468,1601469,1601446 5506 NM_002711,NG_012116,AC092465,AC093598,AF024576,AF024578,CH236947,CH471070,AF024579,BC017405,BC056666,BC070313,BC126451,BC126453,BF576879,DB527300,X78578 NP_002702,AAS07492,AAP22361,AAB94596,EAL24370,EAW83477,EAW83478,AAB94597,AAI26452,AAI26454,CAA55316,Q16821,AAI11453,ADR83347 Hs.458309 GM|PP1G|PPP1R3 RG1|glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle|protein phosphatase 1 glycogen- associated regulatory subunit|protein phosphatase 1 glycogen-associated regulatory subunit|protein phosphatase 1 regulatory subunit 3A|protein phosphatase type-1 glycogen targeting subunit|serine /threonine specific protein phosphatase|type-1 protein phosphatase skeletal muscle glycogen targeting subunit protein-coding 1344962 PPP1R3B protein phosphatase 1, regulatory (inhibitor) subunit 3B The protein phosphatase-1 (PP1) catalytic subunit (PPP1CA; MIM 176875) is regulated by targeting subunits, such as PP1R3B. PP1R3B suppresses the rate at which PP1 dephosphorylates (i.e., inactivates) glycogen phosphorylase (see PYGL; MIM 232700) and enhances the rate at which it activates glycogen synthase (see GYS2; MIM 138571) (Doherty et al., 1995 [PubMed 7498521]).[supplied by OMIM] 2306167,2304267,2304325 17207965,20864672,11948623,7498521,17555403,16344560,15231748,14702039,12477932,11872655,16907705 2306167,2304267,2304325 79660 NM_024607,AC022784,CH471157,AI078688,AK024067,AK091994,AK096119,BC043388,DA100998,NG_028089,AI263711,BQ431880,DB282578,NM_001201329 ADQ33125,NP_078883,EAW65572,BAB14811,BAG53215,AAH43388,Q86XI6,NP_001188258 Hs.458513 FLJ14005|FLJ34675|GL|PPP1R4 PP1 subunit R4|hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL|protein phosphatase 1 regulatory subunit 3B|protein phosphatase 1 regulatory subunit 4|protein phosphatase 1 subunit GL protein-coding 1319302 PPP1R3C protein phosphatase 1, regulatory (inhibitor) subunit 3C Protein phosphatase-1 (PP1; see MIM 176875) participates in the regulation of a wide variety of cellular functions by reversible protein phosphorylation. The ability of PP1 to regulate diverse functions resides in its capacity to interact with a variety of regulatory subunits that may target PP1 to specific subcellular locations, modulate its substrate specificity, and allow its activity to be responsive to extracellular signals. Several targeting subunits of PP1 have been identified, including PPP1R5, the glycogen-binding subunits PPP1R3 (MIM 600917) and PPP1R4, and the nuclear inhibitor of PP1 (PPP1R8; MIM 602636).[supplied by OMIM] 2306167,1580863 9414128,20888814,8985175,19171932,16381901,15489336,12477932,11256614,11230166,11076863,10222257,14532330,16385451,18070875 2306167 5507 NM_005398,AF110824,AL359986,CH471066,AF087874,AK299392,AK299398,AK313149,BC012625,BX537399,Y18207 NP_005389,AAD33215,CAH69995,EAW50107,AAM10502,BAG61377,BAG61382,BAG35967,AAH12625,CAD97641,CAA77082,Q8TDR5,Q9UQK1,CAL37969 Hs.303090 PPP1R5 PP1 subunit R5|PTG|Phosphatase 1, regulatory inhibitor subunit 5|protein phosphatase 1 regulatory subunit 3C|protein phosphatase 1 regulatory subunit 5|protein targeting to glycogen 2314830 INSUL25_H protein-coding 1315049 PPP1R3D protein phosphatase 1, regulatory (inhibitor) subunit 3D Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. 625590,2306167,1580863 9414128,15489334,12477932,11780052,9275233,15778465,17474147 625590,2306167 5509 NM_006242,AL109928,CH471077,BC047502,BC074860,BC074861,BX647298,Y18206 NP_006233,CAB92096,EAW75425,AAH47502,AAH74860,AAH74861,CAA77081,O95685,Q86X09 Hs.42215 DKFZp781L2441|PPP1R6 PP1 subunit R6|protein phosphatase 1 regulatory subunit 3D|protein phosphatase 1 regulatory subunit 6|protein phosphatase 1, regulatory subunit 3D|protein phosphatase 1, regulatory subunit 3d|protein phosphatase 1, regulatory subunit 6, spinophilin|protein phosphatase 1-binding subunit R6 protein-coding 1318988 PPP1R3E protein phosphatase 1, regulatory (inhibitor) subunit 3E 2306166 14702039,12477932,11948623,19773279 2306166 90673 AL049829,CH471078,NR_026862,CQ859798,AK024489,AK091943,AK296016,AW663470,BX161476,BX248758,CR619320 EAW66170,EAW66172,EAW66173,CAH25949,BAB15779,BAG58786,CAD61931,CAD66565,Q86SI2,Q9H7J1 Hs.601513 KIAA1443 miscrna 1353330 PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F 18029348,14702039,12477932,11948623,20398921,20479760,8938429 89801 NM_033215,AF235097,CH471224,AK056297,AK056909,AK127066,AK303738,BC110405,BC131588,BE670223,BF726691,AI694535,AI699647,DC412626,NG_021273,NM_001184745 NP_149992,EAW50670,BAG51670,BAG51824,BAC86811,BAG64711,AAI10406,AAI31589,Q0D2I0,Q6ZSY5,NP_001171674 Hs.433652 HB2E|Hb2E OTTHUMP00000216991|protein phosphatase 1 regulatory subunit 3F protein-coding 1346810 PPP1R3G protein phosphatase 1, regulatory (inhibitor) subunit 3G 11948623 648791 NM_001145115,AL035653,AI089064 NP_001138587,B7ZBB8,CAI22358 Hs.653089 putative protein phosphatase 1 regulatory inhibitor subunit 3G protein-coding 1317789 PPP1R7 protein phosphatase 1, regulatory (inhibitor) subunit 7 1580863 20921135,10231361,17353931,7498485,17630778,17081983,15489334,12477932,12226088,7670491,19019082 5510 NM_002712,AK308015,BC000910,BC012397,BC013001,BC051689,BT007296,BT020134,CR594406,CR594437,CR599386,CR609492,CR611666,CR616338,Z50749,AC005237,AF067134,AF067136,CH471063,AK294043 NP_002703,EAW71243,EAW71244,EAW71245,AAH00910,AAH12397,AAH13001,AAP35960,AAV38936,CAA90626,Q15435,AAD26610,AAD26612,AAD26613,AAD26611,BAG57395 Hs.36587 SDS22 OTTHUMP00000200382|OTTHUMP00000200398|OTTHUMP00000200402|OTTHUMP00000200404|OTTHUMP00000200425|protein phosphatase 1 regulatory subunit 22|protein phosphatase 1 regulatory subunit 7|protein phosphatase 1, regulatory subunit 7|protein phosphatase-1 regulatory subunit 7 alpha2|protein phosphatase-1 regulatory subunit 7 beta1|protein phosphatase-1 regulatory subunit 7 beta2 protein-coding 1314810 PPP1R8 protein phosphatase 1, regulatory (inhibitor) subunit 8 This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq] 727255,1580863 16344560,9153239,17353931,7499293,18842582,18253837,17804093,17724462,16826568,16710414,16216881,15659832,15501817,15489334,15231748,14699119,12788942,12788939,12477932,12105215,11909864,11739654,11104670,11034904,10827081,10564811,10432294,10103062,9407077,8473324,7524097,16048649,16131488,10637318,16169070,17207965,18029348 727255 5511 DA077576,DA167043,DA693246,AF126488,AK292077,AK297771,AK304619,AK307570,AK313814,BC001597,BC003405,BC013360,BC093017,BI459680,CR450309,CR596016,DQ223931,U14575,NM_138558,NM_014110,AF064751,AF064752,AF064753,AF064754,AF064755,AF064756,AF064757,AL020997,AL109927,AL359959,CH471059,AF061958,NM_002713,AF061959 AAD31542,AAD22486,BAF84766,BAG60117,BAG65401,BAG36550,AAH01597,AAH13360,AAH93017,CAG29305,ABB04281,AAA64749,Q12972,Q38J66,Q561W4,Q6ICT4,Q9UHS2,NP_002704,NP_612568,NP_054829,AAD24669,AAD24670,CAI20576,CAI20577,CAI20578,CAI21767,CAI21779,CAI21780,CAI21781,EAX07731,EAX07732,EAX07733,EAX07734,EAX07735,EAX07736,EAX07737,AAD31541,ADQ33139 Hs.533474 ARD-1|ARD1|NIPP-1|NIPP1|PRO2047 OTTHUMP00000039070|RNase E|activator of RNA decay|nuclear inhibitor of protein phosphatase 1|nuclear inhibitor of protein phosphatase-1|nuclear subunit of PP-1|protein phosphatase 1 regulatory subunit 8 protein-coding 1352990 PPP1R8P protein phosphatase 1, regulatory (inhibitor) subunit 8 pseudogene 10103062 5512 NG_001178,AF064758,AL359959 pseudo 1350094 PPP1R9A protein phosphatase 1, regulatory (inhibitor) subunit 9A 1580863 16344560,14702039,12853948,12690205,12477932,10574462,9373149,8125298,12052877,10504266,10514494,9362513,19913121,20628086,12270929,15286155,19615732,20423481,9653190 55607 NM_017650,AC002429,AC004022,AC073886,AC073890,CH236949,CH471091,AB033048,AK000075,AK096514,AK225204,BC037849,BC130449,BC144108,BC144109,BC150636,DA497168,NG_015803,NM_001166160,NM_001166161,NM_001166162,NM_001166163 NP_060120,AAC35294,EAL24134,EAW76776,BAA86536,BAA90928,AAI30450,AAI44110,AAI50637,Q9ULJ8,NP_001159632,NP_001159633,NP_001159634,NP_001159635 Hs.21816 FLJ20068|KIAA1222|NRB1|NRBI|Neurabin-I OTTHUMP00000208240|OTTHUMP00000208241|OTTHUMP00000208242|neurabin-1|neural tissue-specific F-actin-binding protein I|protein phosphatase 1 regulatory subunit 9A protein-coding 733635 PPP1R9B protein phosphatase 1, regulatory (inhibitor) subunit 9B Spinophilin is a regulatory subunit of protein phosphatase-1 catalytic subunit (PP1; see MIM 176875) and is highly enriched in dendritic spines, specialized protrusions from dendritic shafts that receive most of the excitatory input in the central nervous system (Allen et al., 1997 [PubMed 9275233]).[supplied by OMIM] 625590,1580863 11278317,19165527,19151759,19130477,15465982,14702039,12531897,12477932,12417592,12270929,12230305,11154706,10514494,10391935,10194355,9653190,9275233,14550532,15231748,15728359,17482550,19615732,20360004,20468064 625590 84687 NM_032595,AC002401,CH471109,AI056581,AJ401189,AK054907,AL157449,AL713642,BC008564,BC011232,BC016162,BF109903,CB052174,CR605734 NP_115984,EAW94636,EAW94637,EAW94638,CAC37685,BAG51442,CAD28455,AAH08564,AAH16162,Q96B17,Q96HI8,Q96SB3 Hs.514323 FLJ30345|PPP1R6|PPP1R9|SPINO|Spn neurabin II|neurabin-2|neurabin-II|nuerabin 2|protein phosphatase 1 regulatory subunit 9B|protein phosphatase 1, regulatory subunit 9B, spinophilin|spinophilin protein-coding 735585 PPP2CA protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq] 2301729 20677014,11956189,11929880,11929874,11842093,11591705,11531413,11440634,11438723,11371618,11278485,11114196,11113010,10921877,10769027,10698523,10681496,10675325,10644691,10441131,10191253,9989501,9920888,9852076,9795170,9647778,9400615,9353299,9013886,9009195,9003791,8703017,8617805,8524402,8392375,8386634,8383590,8206937,7592815,4092695,2837763,2557326,2555176,1848668,1848320,1846293,1330687,1328247,12859198,12514180,17974561,10357815,18782753,16085932,10629059,12058047,10934208,12062430,12912990,11313937,20558158,21172653,9847399,11007961,2849764,11360189,19356149,19155497,19126401,18977201,18949047,18852266,18586681,18583989,18477699,18430997,18299321,17941990,17852432,17803990,17693927,16541025,16341674,16258073,16189514,16169070,15761153,15671020,15489334,15252037,15247211,15147202,14724252,14702039,14633983,12842894,12637511,12624094,12556559,12477932,12435421,12370081,12186863,12110603,12054646,12036952,11959144,20363734,20663872,20711181,15761952,20615878,10200280,16109716,16580887,16764867,17055435,17148452,17163575,17174897,17245430,17485487,17540176,18715871,18768864,19060904,19360341,19553685,20100830,20106966,20133759,8262976,8617797 2301729 5515 NM_002715,AC104109,CH471062,M60483,AB451240,AK057424,AB451365,AK097599,AV705728,BC000400,BC002657,BC019275,BC031696,BM786995,CR457417,CR593738,CR594228,CR594899,CR596427,CR601999,CR619537,CR624778,J03804,X12646 NP_002706,EAW62268,EAW62269,AAA36466,BAG70054,BAG70179,BAG51913,BAG53493,AAH00400,AAH02657,AAH19275,AAH31696,CAG33698,AAB38019,CAA31176,P67775,Q6I9T8 Hs.105818 PP2Ac|PP2CA|PP2Calpha|RP-C PP2A-alpha|protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform|protein phosphatase 2A catalytic subunit, alpha isoform|protein phosphatase 2a, catalytic subunit, alpha isoform|replication protein C|serine/threonine protein phosphatase 2A, catalytic subunit, alpha isoform|serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform protein-coding 736927 PPP2CB protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 10318862,9920888,9400615,9276686,9013886,1330687,11591705,9009195,12912990,17353931,8206937,2849765,18483222,18460741,17210576,15489334,15147202,14702039,14676191,14633983,12477932,12435421,12370081,12110603,11588171,11531413,11259605,11113010,11007961,10921877,10781942,10600115,8749392,8383590,2837763,2555176,2153055,1846293,11371618,16085932,16541024,16541025,18782753 5516 NM_001009552,AC009314,CH471080,M60484,AF444006,AK091875,BC012022,BG716837,BT019526,CA419001,CF594136,CR541747,CR593215,CR611096,CR624064,J03805,X12656 NP_001009552,EAW63433,EAW63434,EAW63435,EAW63436,AAA36467,AAL35904,BAG52434,AAH12022,AAV38333,CAG46547,AAB38020,CAA31183,P62714,Q5U0I7,Q8WZ56 Hs.491440 PP2Abeta|PP2CB PP2A-beta|protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform|protein phosphatase 2, catalytic subunit, beta isoform|protein phosphatase 2A catalytic subunit, beta isoform|protein phosphatase 2a, catalytic subunit, beta isoform|protein phosphatase type 2A catalytic subunit|serine/threonine protein phosphatase 2A, catalytic subunit, beta isoform|serine/threonine-protein phosphatase 2A catalytic subunit beta isoform protein-coding 1342834 PPP2CBP protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform pseudogene 10493829,8383590 5517 NG_004793,AC002519 PPP2CBP pseudo 1345219 PPP2R1A protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. [provided by RefSeq] 1580863 9847399,11007961,9989501,11360189,17688198,17314097,17210576,16930554,16717086,16344560,15963952,15525651,15489334,15231748,14702039,14676191,14532964,12670497,12477932,12110603,11856313,11531413,11504734,10921877,10862698,10629059,10224043,9400615,9013886,8694763,8254721,7592815,2554323,2159327,2157202,16169070,17353931,20711181,12370081,20826764,11076968,12221128,12852856,16462731,16541024,16541025,16580887,17055435,17148452,17174897,17245430,17374643,17540176,17632056,18715871,18782753,19750005,19794960,19890961,19951945,20237496,7790358,8617797 5518 NM_014225,AC010320,CH471135,M31786,AK090488,AK091387,AK130000,AK290593,AK291932,AK293174,AK293493,AK299012,AK303934,AK307743,AK315700,AU128747,BC001537,BC026733,CR450340,CR604449,CR623106,DB246691,J02902,CA426613,DC398468,NR_033500 NP_055040,EAW72066,AAA35531,BAG52168,BAC03652,BAF83282,BAF84621,BAG56718,BAG56980,BAG61093,BAG64862,BAG38062,AAH01537,CAG29336,AAA36399,P30153,Q8NB89,AAP36766,ABM83682,ABM86978 Hs.467192 MGC786|PP2A-Aalpha|PP2AAALPHA|PR65A PP2A subunit A isoform PR65-alpha|PP2A subunit A isoform R1-alpha|medium tumor antigen-associated 61 KDA protein|protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform|protein phosphatase 2 (formerly 2A), regulatory subunit A , alpha isoform|protein phosphatase 2 (formerly 2a), regulatory subunit a (pr 65), alpha isoform|serine/threonine protein phosphatase 2A, 65 kDa regulatory subunit A, alpha isoform|serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform protein-coding 1312396 PPP2R1B protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Defects in this gene could be the cause of some lung and colon cancers. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20689807,17540176,17449237,17343570,17324501,16276521,15936019,14767517,14576831,12912990,12670497,12477932,12110603,11996789,11929880,11591705,11531413,11440634,11313745,11007961,10921877,10896920,10597236,10358086,9795170,9765152,9400615,9353299,9013886,2159327,1328247,8703017,18782753,12370081,11313937,16541024,16541025,18715871,19615732,19951945,20133745,20237496,20379614 5519 NM_181699,NM_002716,NG_012117,AF083439,AP000925,AP001781,CH471065,AF087438,AF163473,AK292275,AK293388,AK294716,AK296455,AK301705,BC027596,CR617223,DB527885,M65254,DC402587,EF445011,NM_001177562,NM_001177563,NM_181700 NP_859050,NP_002707,AAC63525,EAW67150,EAW67151,AAC69624,AAG39644,BAF84964,BAH11499,BAG57867,BAG59103,BAG63177,AAH27596,AAA59983,P30154,ABM92223,ABM85033,ABW03339,ACA06046,ACA06047,NP_001171033,NP_001171034,NP_859051 Hs.584790 MGC26454|PP2A-Abeta|PR65B PP2A, subunit A, PR65-beta isoform|PP2A, subunit A, R1-beta isoform|protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform|protein phosphatase 2 (formerly 2a), regulatory subunit a (pr 65), beta isoform|protein phosphatase 2, structural/regulatory subunit A, beta|serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform protein-coding 733714 PPP2R2A protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. [provided by RefSeq] 10862698,10681496,9774674,9514514,9400615,9013886,1328247,16048649,15725353,15142377,15638722,15578586,12370081,18782753,15004009,16899564,10200280,17353931,10608806,16041367,15775987,21047956,20711181,9847399,1849734,18697906,18670647,18339811,17693407,17604273,17255109,17055435,16790090,16580887,16474850,16239230,16239222,15489334,14702039,12477932,12110603,11956189,11531413,11259128,11007961,10921877,15380617,17148452,17220478,17245430,17540176,19535438,19556239,19890961 5520 NM_002717,AC022911,CH471080,AK095153,AK303981,AK314823,AY189686,BC041071,BX440554,M64929,AI814790,AK123721,CR600533,CR936829,DB451813,NM_001177591 NP_002708,EAW63577,EAW63578,EAW63579,EAW63580,BAG64899,BAG37345,AAO85219,AAH41071,AAA36490,P63151,Q56VW8,Q6ZP32,NP_001171062 Hs.146339 B55-ALPHA|B55A|B55ALPHA|DKFZp686N05117|FLJ26613|FLJ41727|MGC52248|PR52A|PR55A protein phosphatase 2 (formerly 2A), regulatory subunit B (PR52), alpha isoform|protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), alpha isoform|serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, alpha isoform|serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform protein-coding 1352838 PPP2R2B protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12. [provided by RefSeq] 1580863 19913121,20628086,20669227,20338046,1849734,18973067,18653458,18519826,18484086,17529992,17123511,16596250,16475161,16344560,16286244,16245300,16138911,16126728,16109716,16054804,15489334,15148151,14960773,14702039,12912990,12497613,12477932,12140678,12110603,12058047,11983168,11956189,11723136,11531413,11198281,10921877,10581021,10322434,9514514,9400615,9013886,8348150,16048649,15780175,15725353,15817944,15638722,15578586,16041367,15761153,21075311,21029765,20533062,20056007,20937954,17148452,17245428,17245430,17903297,19235102,19259763,19581569,2001796,20017961,20237496,20379614 5521 NM_181678,NM_181677,NM_181674,NM_181676,NM_181675,NM_004576,NM_001127381,NG_011570,AC008728,AC009186,AC010251,AC011357,AC011386,AC091919,AC091924,AF152102,CH471062,AI621232,AK056192,AK289717,AK294659,AK295347,AK314810,AL540315,AV726282,BI669304,BX647887,CR607404,DA155307,DA365141,DA522334,DA523686,M64930,BC031790 NP_858064,NP_858063,NP_858060,NP_858062,NP_858061,NP_004567,NP_001120853,AAF74024,EAW61829,EAW61830,EAW61831,EAW61832,EAW61833,EAW61834,EAW61835,BAG51642,BAF82406,BAH11838,BAH12040,AAH31790,AAA36491,AAA36492,AAA36493,Q00005,Q9NS07,ABM82711,ABM85895 Hs.655213 B55-BETA|B55BETA|FLJ95686|MGC24888|PP2A-B55BETA|PP2A-PR55B|PP2AB-BETA|PP2AB55BETA|PP2ABBETA|PP2APR55-BETA|PP2APR55B|PP2APR55BETA|PR2AB-BETA|PR2AB55-BETA|PR2AB55BETA|PR2ABBETA|PR2APR55-BETA|PR2APR55BETA|PR52B|PR55-BETA|PR55BETA|SCA12 OTTHUMP00000160097|OTTHUMP00000223707|OTTHUMP00000223708|PP2A subunit B isoform B55-beta|PP2A subunit B isoform PR55-beta|PP2A subunit B isoform R2-beta|PP2A, subunit B, B-beta isoform|protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform|protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform|protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), beta isoform|serine/threonine protein phosphatase 2A, 55 kDa regulatory subunit B, beta isoform|serine/threonine protein phosphatase 2A, neuronal isoform|serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform protein-coding 732376 PPP2R2C protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 10945473,18069897,14998489,14702039,12912990,12477932,12136098,12110603,11531413,11007961,10921877,10574460,9847074,9514514,9400615,9013886,16048649,15817944,15780175,15725353,15638722,15578586,18782753,16041367,20601260,19734900,20308991,20379614 5522 NM_020416,NM_181876,AC114815,AC116317,AC122939,AF096153,AF096160,AJ328955,CH471131,AB209183,AF086924,AF145027,AK093115,AK122849,AK127386,AK296474,AK316003,AW955803,BC021735,BC032954,BC045682,BM551976 NP_065149,NP_870991,AAD20987,EAW82393,EAW82394,EAW82395,BAD92420,AAG39636,AAP97279,BAG52658,BAH12367,BAH14374,AAH32954,Q59GC6,Q9Y2T4 Hs.479069 B55-GAMMA|IMYPNO|IMYPNO1|MGC33570|PR52|PR55G OTTHUMP00000217568|OTTHUMP00000217634|OTTHUMP00000217635|PP2A subunit B isoform B55-gamma|PP2A subunit B isoform PR55-gamma|PP2A subunit B isoform R2-gamma|PP2A subunit B isoform gamma|PP2A, subunit B, B-gamma isoform|PP2A, subunit B, B55-gamma isoform|PP2A, subunit B, PR55-gamma isoform|PP2A, subunit B, R2-gamma isoform|gamma isoform of regulatory subunit B55, protein phosphatase 2|phosphoprotein phosphatase 2A BR gamma regulatory chain|protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform|protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform|protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), gamma isoform|protein phosphatase 2, regulatory subunit B, gamma|protein phosphatase 2A1 B gamma subunit|serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, gamma isoform|serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform protein-coding 1351294 PPP2R2D protein phosphatase 2, regulatory subunit B, delta isoform 1580863 15489334,15164054,14702039,12477932,10819331,16169070,17148452,18697906,18782753,19615732,17207965 55844 NM_018461,AL732395,CH471066,AF220046,AI521071,AK000402,AK001483,AK293065,BC047379,BC058076,BC060885,BC072402,CR592682,CR597188,CR611198,NR_033191 NP_060931,CAI16703,EAW49145,EAW49146,EAW49147,AAF67639,BAG50921,BAF85754,AAH47379,AAH58076,AAH72402,Q66LE6,Q6IN90,Q6PEG1,Q9NZ48,ADQ31990 Hs.380372,Hs.657480 MDS026 PP2A subunit B isoform B55-delta|PP2A subunit B isoform PR55-delta|PP2A subunit B isoform R2-delta|PP2A subunit B isoform delta|protein phosphatase 2, regulatory subunit B, delta isoform|serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform protein-coding 1315869 PPP2R3A protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 9847399,8392071,1849734,18397887,17535922,16713569,15687260,12524438,12477932,12110603,11748221,11531413,11504734,11007961,10921877,10629059,10358086,9927208,9400615,9013886,16048649,15817944,15780175,15725353,15578586,15638722,12506124,16344560,16567647,17055435,18715506 5523 BC040158,BC065531,BE897340,L07590,L12146,NM_181897,AC072039,AC092991,CH471052,AK293012,AK314243,AL389975,AL599266,BC015034,BC029409,NM_002718,AK298059,AK299544,AK302163,AK316258,DB223168,DB378665,NM_001190447 AAH29409,AAH65531,AAB02613,AAB02614,Q06190,Q6P0N9,NP_002709,NP_871626,EAW79122,EAW79123,EAW79124,EAW79125,EAW79126,BAF85701,BAG36910,CAB97532,AAH15034,BAG60353,BAG61490,BAG63530,BAH14629,NP_001177376 Hs.518155 PPP2R3|PR130|PR72 OTTHUMP00000216420|PP2A subunit B isoform PR72/PR130|PP2A subunit B isoform R3 isoform|PP2A subunit B isoforms B''-PR72/PR130|PP2A subunit B isoforms B72/B130|PP2A, subunit B, R3 isoform|protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform|protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha|serine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit B|serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha protein-coding 1604626 PPP2R3B protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 9847399,10629059,12477932,11593413,11173861,10508479,8889548,12370081,18782753,12605688,16344560,17207965 28227 NM_013239,AF215840,AL732314,AL954664,BX000476,CH471225,AB209137,AF135016,AF155098,AI248426,AL157501,BC009032,BC011180,BC063429,BF530463,BI828434,BK000521,BM676246,BU845905,CB218994,AF215839,BM666129,BM715684,DA061573,NG_013257,AK293506 NP_037371,CAI41975,EAW66818,EAW66819,BAD92374,AAD38515,AAD42864,CAB75680,AAH09032,AAH11180,AAH63429,DAA00385,Q59GH2,Q96FD8,Q9NSQ1,Q9UHL2,Q9Y5P8,BAG56990,ADQ31576 Hs.124942 FLJ60425|NY-REN-8|NYREN8|PPP2R3L|PPP2R3LY|PR48 NY-REN-8 antigen|PP2A, subunit B, PR48 isoform|protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta|serine/threonine protein phosphatase 2A, 48kDa regulatory subunit B|serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta protein-coding 1319421 PPP2R3C protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma 16129705,15820313,15489334,14702039,12477932,12167160,9373149,8125298,17207965 55012 AL049776,AL121594,CH471078,AK000651,AK225447,AK225512,AK293717,AK310700,AK311337,AY157304,AY157305,AY518535,AY518536,AY518537,BC006823,BC010293,BC012563,BC037797,BC063438,BC100021,BX248043,CR590316,CR594274,CR601345,CR602202,CR618013,CR622598,NM_017917 EAW65886,EAW65887,EAW65888,EAW65889,EAW65890,BAA91308,BAG57148,AAO17045,AAO17046,AAT44532,AAT44533,AAH06823,AAH10293,AAH12563,AAH63438,CAD62352,Q86US5,Q969Q6,NP_060387,ADQ31745 Hs.530712,Hs.621667 C14orf10|FLJ20644|G4-1|G5pr chromosome 14 open reading frame 10|protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma|protein phosphatase subunit G5PR|rhabdomyosarcoma antigen MU-RMS-40.6A|rhabdomyosarcoma antigen MU-RMS-40.6A/6C|rhabdomyosarcoma antigen Mu-RMS-40.6C|serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma protein-coding 1318076 PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20110348,20558741,10830164,9373149,16916641,10318862,8195217,19507191,19465001,19405949,19286927,19234487,19129191,19121623,18931662,18586097,18486982,18334487,18292600,18208556,18201571,18045992,18029348,16936753,16885030,16782712,16380387,16344560,16293617,15965230,15489334,15164053,12477932,12110603,11956189,11531413,10921877,10880964,10585862,9400615,9139659,9013886,8887688,8530035,8125298,7721943,3017441,16048649,15817944,15780175,15725353,15638722,15578586,18397887,10681496,8702385,15225643,12952889,20498628,15203218,20308788,20306465,11576548,17333320,19458393,19704001,19890961,19915589,19940183,20673369 5524 NM_021131,NM_178001,NM_178000,NM_178003,AF134185,AL158151,CH471090,X86428,X86439,AK222788,AK297202,AK302043,AK302897,AK307424,AK310328,AK310543,AU133279,BC002545,BC010497,BC011605,BC020581,BE732116,BG255640,BT020119,CR597906,CR605961,CR617712,CR619139,CR620812,CR749810,X73478,AU125192,BQ896712,CD630703,DA052599,DA387148,DA737954,DB009663,DC375389,NM_001193397 NP_066954,NP_821068,NP_821067,NP_821070,AAF24143,CAI12872,CAI12873,CAM14694,CAM14695,CAO03338,CAO03339,CAO03340,CAO03341,CAO03342,CAO03343,EAW87876,EAW87877,EAW87878,EAW87879,EAW87880,EAW87881,EAW87882,EAW87883,EAW87884,EAW87885,CAA60163,CAB77601,CAB77602,CAB77603,BAD96508,BAG59687,BAG63436,BAG64070,AAH02545,AAH11605,AAV38922,CAH18670,CAA51873,Q15257,Q5T948,Q5T949,Q68CR8,ABM83080,ABM85805,ABM86275,NP_001180326,CAP58847,CAX15251,CAX15252,CAX15253,CAX15254,CAX15255 Hs.400740 MGC2184|PP2A|PR53|PTPA OTTHUMP00000022335|OTTHUMP00000043295|OTTHUMP00000196049|PP2A phosphatase activator|PP2A subunit B' isoform PR53|PP2A, subunit B', PR53 isoform|phosphotyrosyl phosphatase activator|protein phosphatase 2A, regulatory subunit B' (PR 53)|protein phosphatase 2a, regulatory subunit b' (pr 53)|serine/threonine-protein phosphatase 2A activator|serine/threonine-protein phosphatase 2A regulatory subunit 4|serine/threonine-protein phosphatase 2A regulatory subunit B' protein-coding 1317550 PPP2R5A protein phosphatase 2, regulatory subunit B', alpha isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. [provided by RefSeq] 1580863 10092233,9400615,9013886,8889548,8812429,8702385,8694763,7592815,16048649,15817944,15780175,15725353,15638722,18782753,12370081,11297546,11929880,11585828,15342556,9847399,8703017,18981217,18957415,16710414,15489334,14690447,12501214,12477932,12435421,12110603,12086851,12062430,12058047,11994459,11929874,11884620,11856313,11531413,11397791,10921877,10866685,20378546,15380617,15569306,16097049,16541024,16541025,17245430,17540176,19538941,20160490 5525 AA425592,BP326450,NM_001199756,NM_006243,AL360091,AL451060,CH471100,AK302202,AK312530,BC022474,BC110883,BM974076,CR594992,CR604482,CR624407,L42373 NP_001186685,NP_006234,CAH73229,CAH71821,EAW93392,EAW93393,BAH13648,BAG35429,AAH22474,AAI10884,AAC37601,Q15172,ABM83287,ABM86494 Hs.726043 B56A|MGC131915|PR61A PP2A B subunit isoform B'-alpha|PP2A B subunit isoform B56-alpha|PP2A B subunit isoform PR61-alpha|PP2A B subunit isoform R5-alpha|PP2A, B subunit, B' alpha isoform|PP2A, B subunit, B56 alpha isoform|PP2A, B subunit, PR61 alpha isoform|PP2A, B subunit, R5 alpha isoform|PR61alpha|protein phosphatase 2, regulatory subunit B (B56), alpha isoform|protein phosphatase 2, regulatory subunit B', alpha isoform|protein phosphatase 2, regulatory subunit b (b56), alpha isoform|serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, alpha isoform|serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform protein-coding 1353441 PPP2R5B protein phosphatase 2, regulatory subunit B', beta isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq] 1580863 16456541,15665512,15489334,14702039,12477932,12110603,11531413,10921877,10698523,9400615,9272177,9013886,8812429,8694763,8012384,7592815,12775419,16048649,15817944,15780175,15725353,15380617,8703017,11956189,16541024,16541025,18385213,18782753,8889548 5526 AP001187,NM_006244,CH471076,Z58949,AK092730,BC045619,CR621212,L42374,BE883575,BM665417 NP_006235,EAW74324,EAW74325,AAH45619,AAC37602,Q15173,Q59G20,ABZ92527 Hs.75199 B56B|FLJ35411|PR61B PP2A B subunit isoform B'-beta|PP2A B subunit isoform B56-beta|PP2A B subunit isoform PR61-beta|PP2A B subunit isoform R5-beta|protein phosphatase 2, regulatory subunit B', beta isoform|protein phosphatase 2, regulatory subunit b (b56), beta isoform|serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform|serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform protein-coding 1319620 PPP2R5C protein phosphatase 2, regulatory subunit B', gamma isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20473327,20663923,16344560,15778281,15632055,12477932,12297508,12110603,11959144,11929880,11863364,11531413,10921877,10698523,10675325,10508479,9400615,9013886,8812429,8694763,7607250,7592815,7584044,7584026,16048649,15817944,15780175,15725353,18782753,11956189,8617797,15380617,17540176,8703017,16717086,17967874,17663574,17245430,16524888,20448040,16456541,16541024,16541025,16580887,20379614 5527 NM_178586,NM_178587,AL118558,AL137779,AY052369,CH471061,AA487513,AA716736,AB451341,AI282996,AI692258,AK131391,AK302470,AK315072,AL834350,BC016183,BC051442,BI560029,BQ006619,BX248254,CR597926,CR600629,CR605905,CR611892,NM_002719,CR620797,D26445,DA853338,L42375,U37352,Z69030,NM_001161725,NM_001161726 NP_002710,NP_848701,NP_848702,AAL14777,AAL14778,AAL14779,EAW81752,EAW81753,EAW81754,EAW81755,EAW81756,EAW81757,BAG70155,BAD18542,BAG63760,AAH16183,CAD62582,BAA05465,AAC37603,AAC50387,CAA93154,Q13362,Q6ZN33,Q7L7W2,Q86U13,Q96B13,Q96L51,Q96L52,NP_001155197,NP_001155198 Hs.368264 B56G|MGC23064|PR61G B' alpha regulatory subunit|PP2A B subunit isoform B'-gamma|PP2A B subunit isoform B56-gamma|PP2A B subunit isoform PR61-gamma|PP2A B subunit isoform R5-gamma|protein phosphatase 2, regulatory subunit B (B56), gamma isoform|protein phosphatase 2, regulatory subunit B', gamma isoform|protein phosphatase 2, regulatory subunit b (b56), gamma isoform|renal carcinoma antigen NY-REN-29|serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform protein-coding 1350999 PPP2R5CP protein phosphatase 2, regulatory subunit B', gamma isoform pseudogene 11863364 140921 NG_001307,AF411591,AC092045 protein phosphatase 2, regulatory subunit b (b56), gamma isoform pseudogene pseudo 1315410 PPP2R5D protein phosphatase 2, regulatory subunit B', delta isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 16189514,17110335,17540176,8703017,18056802,16565220,16239230,15809743,15489334,14702039,14636580,12477932,12110603,11531413,10921877,9400615,9180267,9013886,8812429,8566219,7592815,16048649,15817944,15780175,15725353,12912990,14690447,20423611,18029348,15380617,16541024,16541025,18715871,18782753,19538941 5528 L76702,NM_180976,NM_180977,AL136304,CH471081,AB000634,AB000635,AB209861,AB451342,AB451357,AK122701,AK290604,AK291797,AK299696,BC001095,BC001175,BC010692,CR590993,CR625285,D78360,NM_006245 BAA11372,Q14738,Q59EF0,AAB69751,ABZ92528,NP_006236,NP_851307,NP_851308,CAI19791,EAX04130,EAX04131,EAX04132,EAX04133,EAX04134,BAA20381,BAA20382,BAD93098,BAG70156,BAG70171,BAF83293,BAF84486,BAG61599,AAH01095,AAH01175,AAH10692 Hs.533308 B56D|MGC2134|MGC8949 OTTHUMP00000216862|OTTHUMP00000216863|OTTHUMP00000216866|PP2A B subunit isoform B'-delta|PP2A B subunit isoform B56-delta|PP2A B subunit isoform PR61-delta|PP2A B subunit isoform R5-delta|PP2A, B subunit, B' delta isoform|PP2A, B subunit, B56 delta isoform|PP2A, B subunit, PR61 delta isoform|PP2A, B subunit, R5 delta isoform|Serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, delta isoform|protein phosphatase 2, regulatory subunit B (B56), delta isoform|protein phosphatase 2, regulatory subunit B', delta isoform|protein phosphatase 2, regulatory subunit b (b56), delta isoform|serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform protein-coding 1313814 PPP2R5E protein phosphatase 2, regulatory subunit B', epsilon isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. [provided by RefSeq] 1580863 15817944,15380617,17540176,8703017,18029348,15489334,15231748,12477932,12110603,11531413,10921877,9400615,9013886,8812429,8694763,7592815,16048649,15780175,15725353,18782753,20889715,15034937,16541024,16541025,19773383,19890961 5529 NM_006246,AL118555,AL132992,AL136038,CH471061,AB209811,AB451233,AB451358,AK313500,BC013154,BC034994,BC048305,BC056156,BC064358,BC073873,BC092477,BC093766,BC101479,BC143231,BC143234,BQ439131,CB989123,L76703,Z69029,AK299520,AK301796,AK316430 Q59EK0,Q86XZ2,ABZ92529,NP_006237,EAW80826,EAW80827,BAD93048,BAG70047,BAG70172,AAH34994,AAH48305,AAH64358,AAH92477,AAH93766,AAI01480,AAI43232,AAI43235,AAB69752,CAA93153,Q16537,Q562F2,Q58EX4,BAH13057,BAH13556,BAH14801 Hs.334868 PP2A B subunit isoform B'-epsilon|PP2A B subunit isoform B56-epsilon|PP2A B subunit isoform PR61-epsilon|PP2A B subunit isoform R5-epsilon|PP2A, B subunit, B' epsilon|PP2A, B subunit, B56 epsilon|PP2A, B subunit, PR61 epsilon|PP2A, B subunit, R5 epsilon|epsilon isoform of regulatory subunit B56, protein phosphatase 2A|protein phosphatase 2, regulatory subunit B (B56), epsilon isoform|protein phosphatase 2, regulatory subunit b (b56), epsilon isoform|serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, epsilon|serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform protein-coding 730900 PPP3CA protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform 1580700,1580701,1580702,734902,1580725,1580726,1300048,1580863,1579951,1302567,1579956 19913121,20514436,20593291,20628086,8392375,19492085,19458075,19285944,19154138,19034380,18815128,18660489,18628988,18296442,17478429,17320203,16381901,16189514,16150694,15955804,15671033,15671020,15489336,15489334,15454081,14704270,12809556,12586544,12574411,12510191,12482669,12477932,12218175,12135494,12102656,12063245,12021260,11842093,11714752,11513882,11478781,11439183,11316738,11114196,11076863,10861295,10195903,10089876,9765270,9109491,8978785,8524402,8521476,7593193,7543369,7528941,2848250,2556704,2162844,1659808,9655484,9880537,20700529,20501444,20590401,19879877,20413672,15757646,17474147,18029348,20107831,20379146,20379614,20422345,6330098,15489953,21047202,21070662 1580700,1580701,1580702,734902,1580725,1580726,1579951,1302567,1579956 5530 NM_001130692,NM_001130691,NM_000944,AC092671,AP001816,AP001870,AP001939,CH471057,AB451338,AB451487,AK290532,AL353950,AW973358,AY904364,BC025714,BC098424,EU192652,EU192653,J05480,L14778 NP_001124164,NP_001124163,NP_000935,EAX06123,EAX06124,EAX06125,BAG70152,BAG70301,BAF83221,CAB89253,AAY17314,AAH25714,ABW74484,ABW74485,AAA35634,AAA02631,Q08209,Q9UMM5,CAL38363,CAL38589 Hs.435512 CALN|CALNA|CALNA1|CCN1|CNA1|PPP2B CAM-PRP catalytic subunit|OTTHUMP00000219551|calcineurin A alpha|calmodulin-dependent calcineurin A subunit alpha isoform|protein phosphatase 2B, catalytic subunit, alpha isoform|protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform|protein phosphatase 3 (formerly 2b), catalytic subunit, alpha isoform (calcineurin a alpha)|serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform protein-coding 733965 PPP3CB protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform 1580703,1580704,1580705,1580706,1580727,1579951,1579956 19913121,20593291,20628086,8978785,19287956,19154138,19136967,18458866,18034994,16344560,16024800,15557343,15514034,12809556,12482669,12477932,11970967,11842093,11714752,11114196,11030334,9660947,9655484,7593193,2558868,2556704,1848109,1659808,1321058,17952113,19925438,20700529,8524402,8392375,17148452,19659461,20107831,20379146,6330098,21047202 1580703,1580704,1580705,1580706,1580727,1579951,1579956 5532 NM_001142354,NM_001142353,NM_021132,AL353731,AL359074,CH471083,S40012,AJ488506,AK300701,AK301582,BC028049,BC035464,BU633160,CR612755,DA192735,M29550,M29551 NP_001135826,NP_001135825,NP_066955,CAI52482,CAI52487,CAI52488,CAI52472,CAI52473,CAI52474,EAW54496,EAW54497,EAW54498,EAW54499,EAW54500,AAB22473,CAD32694,BAH13328,BAH13517,AAH28049,AAA35705,AAA35706,P16298,Q5F2F8,Q5F2G0,Q8N1F0,Q9UMB2 Hs.500067 CALNA2|CALNB|CNA2|PP2Bbeta CAM-PRP catalytic subunit|OTTHUMP00000019824|calcineurin A beta|calcineurin A2|calmodulin-dependent calcineurin A subunit beta isoform|protein phosphatase 2B, catalytic subunit, beta isoform|protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform|protein phosphatase 3, catalytic subunit, beta isoform|protein phosphatase from PCR fragment H32|serine/threonine-protein phosphatase 2B catalytic subunit beta isoform protein-coding 1347828 PPP3CC protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform Calmodulin-dependent protein phosphatase, calcineurin, is involved in a wide range of biologic activities, acting as a Ca(2+)-dependent modifier of phosphorylation status. In testis, the motility of the sperm is thought to be controlled by cAMP-dependent phosphorylation and a unique form of calcineurin appears to be associated with the flagellum. The calcineurin holoenzyme is composed of catalytic and regulatory subunits of 60 and 18 kD, respectively. At least 3 genes, calcineurin A-alpha (CALNA1; MIM 114105), calcineurin A-beta (CALNA2; MIM 114106), and calcineurin A-gamma (CALNA3), have been cloned for the catalytic subunit. These genes have been identified in humans, mice, and rats, and are highly conserved between species (90 to 95% amino acid identity).[supplied by OMIM] 1580863,1579951 20593291,20205591,12851458,12482669,12477932,11714752,1339277,15231831,10195903,19367581,19154138,18991849,18715757,18460741,18343007,18201382,18198266,17895921,17339875,15843870,15820226,15761153,14702039,17207965,21047202,17148452,20107831,20379146,20398908,20537399,6330098 1579951 5533 NM_005605,AC037459,AC087854,CH471080,AK055013,AK299415,AY007249,BC004864,CR591053,S46622 NP_005596,EAW63677,EAW63678,EAW63679,BAG61397,AAG02563,AAH04864,AAB23769,P48454,ADQ32848 CALNA3|CNA3|PP2Bgamma CAM-PRP catalytic subunit|calcineurin, testis-specific catalytic subunit|calmodulin-dependent calcineurin A subunit gamma isoform|protein phosphatase 2B, catalytic subunit, gamma isoform|protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform|protein phosphatase 3 (formerly 2b), catalytic subunit, gamma isoform (calcineurin a gamma)|serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform protein-coding 1350432 PPP3R1 protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform 1580706,1580707,1580708,1580709,1580728,1580729,1579951 19913121,20593291,20628086,2558868,8524402,15231831,10195903,19156168,18825932,18818667,18422742,18343007,18296442,18034994,17761791,17237284,17038582,16648474,16473827,16209992,15815621,15489334,12482669,12477932,12357034,12218175,11982754,11439183,11108966,10959817,10520753,10493818,8978785,7541044,15589160,19285944,19453261,19653005,20107831,20237496,6330098,20862329,21047202 1580706,1580707,1580708,1580709,1580728,1580729,1579951 5534 NM_000945,AC017083,CH471053,AK307136,AK314893,BC027913,BM468705,BQ228635,CR456938,CR593156 NP_000936,AAY14715,EAW99878,BAG37407,AAH27913,CAG33219,P63098 Hs.280604 CALNB1|CNB|CNB1 OTTHUMP00000201960|OTTHUMP00000201961|calcineurin B, type I (19kDa)|calcineurin subunit B type 1|protein phosphatase 2B regulatory subunit 1|protein phosphatase 2B regulatory subunit B alpha|protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)|protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)|protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform|protein phosphatase 3 (formerly 2b), regulatory subunit b, 19kda, alpha isoform (calcineurin b, type i) protein-coding 1346251 PPP3R2 protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform 1579951 19156168,17892862,17684544,17531200,17324936,16961774,15865209,15489334,14702039,12482669,12477932,1718268,19913121,20593291,20628086,17230191,20107831 1579951 5535 NM_147180,AL591377,CH471105,AF085237,AF145026,AF400667,AK057524,BC030595,BC066299,HC007224,HC044525 NP_671709,CAH69961,EAW58961,AAL40395,AAP97278,AAP57772,BAB71521,AAH30595,AAH66299,Q5VTR4,Q96LZ3,CBH19417,CBH30592 Hs.151167 PPP3RL CBLP|CBLP-like|CNBII|calcineurin B, type II (19kDa)|calcineurin B-like protein|calcineurin BII|calcineurin subunit B type 2|protein phosphatase 2B regulatory subunit 2|protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), beta isoform (calcineurin B, type II)|protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, beta isoform (calcineurin B, type II)|protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform|protein phosphatase 3 (formerly 2b), regulatory subunit b, 19kda, beta isoform (calcineurin b, type ii)|protein phosphatase 3 regulatory subunit B beta isoform|protein phosphatase 3, regulatory subunit B (calcineurin B)-like protein-coding 1352781 PPP4C protein phosphatase 4 (formerly X), catalytic subunit 9837938,18715871,19242545,18758438,18614045,18487071,18424272,18347064,17353931,15805470,15489334,15364934,15331607,15073167,12668731,12477932,10769191,10026142,9647778,9359419,9177794,8384557,1336397,18634786,16085932,19539371,20154705 5531 NM_002720,AC093512,CH471238,AF097996,BC001416,BT019746,CR591400,CR596664,CR602191,CR602786,CR610798,CR611373,CR613303,CR616736,CR618633,CR619878,CR621457,CR623362,X70218 NP_002711,EAW79928,EAW79929,EAW79930,EAW79931,AAC96318,AAH01416,AAV38551,CAA49753,P60510,Q5U086,ABM82873,ABM86060 Hs.534338 PP4|PP4C|PPH3|PPP4|PPX PP-X|protein phosphatase 4 (formerly X), catalytic subunit|protein phosphatase X, catalytic subunit|serine/threonine-protein phosphatase 4 catalytic subunit protein-coding 735851 PPP4R1 protein phosphatase 4, regulatory subunit 1 1580863 17353931,10026142,15489334,14702039,12477932,11729228,9110174,8619474,15805470,16085932,18715871,20379614 9989 NM_001042388,NM_005134,AP000902,AP001381,AP005432,CH471113,AF100744,AF111106,AF200478,AK025509,AK027064,AK090718,AK292538,AK315106,BC060829,DR006046,U79267,AK293869,AK295533 NP_001035847,NP_005125,EAX01598,EAX01599,EAX01600,AAD43008,AAD09818,AAL78298,BAF85227,BAG37566,AAH60829,AAB50211,Q8TF05,BAG57259,BAG58445 Hs.725994 PP4(Rmeg)|PP4R1 serine/threonine phosphatase 4|serine/threonine-protein phosphatase 4 regulatory subunit 1 protein-coding 1354233 PPP4R1L protein phosphatase 4, regulatory subunit 1-like 1580863 14702039,12477932,11780052,11483580 55370 NR_003505,AL035455,AL354776,AL354834,CH471077,AK057583,AK299330,AL833409,BC100979,BC100980,CR605633,CR994964,CX783537 CAC17568,CAM14101,EAW75498,EAW75499,EAW75500,EAW75501,BAB71529,BAG61336,Q96LY6,Q9H1P5,Q9P1A2 Hs.473179 C20orf192|PRO1085 pseudo 1316433 PPP4R2 protein phosphatase 4, regulatory subunit 2 1580863 17353931,10769191,12668731,12477932,18029348,16085932,18614045,18715871,20154705 151987 AC098481,AC103559,CH471055,AF327345,AJ271448,AK289901,AL833216,BC100281,BC110889,BC128136,BC128137,CR606592,NM_174907 NP_777567,EAW65530,AAL56006,CAB93534,BAF82590,AAI00282,AAI10890,AAI28137,AAI28138,Q9NY27 Hs.431092 MGC131930|PP4R2 OTTHUMP00000213546|serine/threonine-protein phosphatase 4 regulatory subunit 2 protein-coding 1344077 PPP4R4 protein phosphatase 4, regulatory subunit 4 The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The function of this particular gene product has not been determined. Alternative splicing has been observed for this gene and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 18715871,15014966,12477932,11491282,10997877,9989501 57718 NM_058237,NM_020958,AL117259,AL121838,CH471061,AB046842,AK303722,BC002650,BC068491,BI546744,DB480905 NP_478144,NP_066009,EAW81561,EAW81562,EAW81563,BAB13448,BAG64698,AAH02650,AAH68491,Q6NUP7 Hs.259599 KIAA1622|PP4R4 HEAT-like repeat-containing protein|serine/threonine-protein phosphatase 4 regulatory subunit 4 protein-coding 68614 PPP5C protein phosphatase 5, catalytic subunit 1580863 9405394,9383998,9373149,9195923,8666404,8561788,8125298,1330687,16169070,15735747,15664193,20029029,14764652,7925273,12761501,19176521,18280813,17084641,16892053,16790549,16537434,16531226,16260606,15577939,15489334,15328343,15218033,15155720,15057824,14734805,14702039,12522145,12519780,12477932,12435421,12176367,11689443,11504734,10400612,9482716,18029348,16083881,18547097,19586900,19615732,19948726 5536 NM_006247,AC007193,CH471126,AB209615,AK094241,AK223222,AK293402,AK297095,AK312683,BC000750,BC001831,BC001970,BT007275,CR608296,CR609801,CR614329,CR621186,CR624518,U25174,X89416,X92121 NP_006238,AAD22669,EAW57415,EAW57416,EAW57417,BAD92852,BAD96942,BAG56909,BAG59608,BAG35563,AAH00750,AAH01831,AAH01970,AAP35939,AAB60384,CAA61595,CAA63089,P53041,Q53FR0,Q59F46,Q9BPW0 Hs.654604 FLJ36922|PP5|PPP5 OTTHUMP00000165834|PP-T|PPT|Serine/Threonine phosphatase|protein phosphatase T|serine/threonine-protein phosphatase 5 protein-coding 734407 PPP6C protein phosphatase 6, catalytic subunit This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq] 1580863 18186651,16716191,9013334,19198648,17568194,16769727,16344560,16276083,15489334,12477932,9647778,9143513,8889548,16085932,14743216,15761153,19621075,19626039,20065038 5537 NM_002721,NM_001123355,NM_001123369,AL445930,CH471090,AA251321,AF035158,AK295190,AK295752,AK299087,AK312332,AK316527,BC006990,BT019708,CB250498,CR604032,CR614982,CR621615,CR626684,DB037210,DC307002,DC334216,DC369815,X92972 NP_002712,NP_001116827,NP_001116841,CAI13676,CAI13677,EAW87611,EAW87612,EAW87613,AAD45400,BAH12005,BAH12178,BAH12945,BAG35253,BAH14898,AAH06990,AAV38514,CAA63549,O00743 Hs.727586 FLJ92648|MGC12249|PP6 PP6C|serine/threonine protein phosphatase catalytic subunit|serine/threonine-protein phosphatase 6 catalytic subunit protein-coding 2293110 PPP6CP protein phosphatase 6, catalytic subunit pseudogene 16276083 100144631 NG_007543,AL118496 pseudo 1603047 PPPDE1 PPPDE peptidase domain containing 1 19133312,18538138,15489334,12477932,10810093 51029 NM_016076,AC099757,AL451007,CH471148,AF151904,AF229834,AK314664,AL049397,BC004485,BC020640,BC040608,BG290656,BI459676,CR626654,DB454981 NP_057160,CAH70879,CAH70880,EAW77114,EAW77115,EAW77116,EAW77117,AAD34141,AAF42919,AAH04485,AAH20640,Q8WUE8,Q9BSY9 Hs.498317 C1orf121|CGI-146|FAM152A|FLJ21998|PNAS-4 OTTHUMP00000038198|PPPDE peptidase domain-containing protein 1|chromosome 1 open reading frame 121|family with sequence similarity 152, member A protein-coding 1607044 PPPDE2 PPPDE peptidase domain containing 2 19913121,20628086,15461802,12477932,9110174,8619474 27351 NM_015704,AL023553,CH471095,Z83840,AF038183,BC093956,BC112179,BC171724,CR456458,CR605156,CR605886,BC039554,BX403547,BX478162,XR_109721,XR_112250,XR_115466 NP_056519,CAI20277,EAW60445,CAI17917,AAH93956,AAI12180,CAG30344,Q6ICB0 Hs.570455,Hs.633087 D15Wsu75e|DJ347H13.4|FAM152B|MGC138384 PPPDE peptidase domain-containing protein 2|family with sequence similarity 152, member B protein-coding 1320168 PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1 The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPARGC1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. [provided by RefSeq] 19209188,19036724,18660489,18343819,17937892,17390079,17341490,16511594,15684387,14722127,14702039,14550271,12477932,11943463,11340167,9628581,8889548,12611894,16385451,19956726 23082 AL500527,CH471066,AB011167,AF325193,AK025691,AK095248,AK299885,BC002561,BC063806,BC063829,NM_015062,CA442653 NP_055877,CAH72218,CAH72219,EAW49719,EAW49720,EAW49721,BAA25521,AAK11573,BAG61732,AAH02561,AAH63806,AAH63829,Q5VV67 Hs.533551 KIAA0595|MGC74642|PRC|RP11-302K17.6 OTTHUMP00000020359|PGC-1 related co-activator|PGC-1-related coactivator|peroxisome proliferative activated receptor, gamma, coactivator-related 1|peroxisome proliferator-activated receptor gamma coactivator-related protein 1 protein-coding 736552 PPT1 palmitoyl-protein thioesterase 1 The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene. 734784,1580863 8633062,8325646,7916016,8786130,10658183,10737604,7637805,15929065,10992246,16542649,8816748,11722572,11020216,11136716,10740217,12483688,8895569,19302939,19201763,19165527,19054571,18704195,17261688,16571600,16518810,16344560,16303743,15489334,12855696,12754519,12477932,12125808,12025857,11588997,11506414,11440996,10416973,9664077,9571187,9425237,19793631,17207965 734784 5538 NM_001142604,NM_000310,NG_009192,AF022211,AL512599,CH471059,L42809,AK075496,AK301682,AK302232,AK310799,AK312287,BC008426,BX441569,CR542053,CR591777,CR596258,CR599400,DA504318,U44772,HH961862 NP_001136076,NP_000301,AAB72224,CAI11023,CAI11024,CAI11025,CAI11026,EAX07237,EAX07238,AAA85337,BAG63155,BAG63586,BAG35214,AAH08426,CAG46850,AAB06236,P50897,Q5T0S4,Q6FGQ4,CBX51404,ADQ31900 Hs.3873 CLN1|INCL|PPT OTTHUMP00000004837|OTTHUMP00000004838|PPT-1|ceroid-palmitoyl-palmitoyl-protein thioesterase 1|palmitoyl-protein hydrolase 1|palmitoyl-protein thioesterase|palmitoyl-protein thioesterase 1 protein-coding 731722 PPT2 palmitoyl-protein thioesterase 2 This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Three transcript variants encoding different isoforms have been described for this gene, with one of the isoforms being inactive. [provided by RefSeq] 731239,1580863 10417332,9341199,19143821,16381901,15489336,15489334,14759258,14656967,14574404,12975309,12855696,12477932,11717424,11256614,11230166,11076863,10051407,17207965,19851445,20010835 731239 9374 NM_138717,NM_005155,AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR753803,CR812478,CR933878,U89336,AF020543,AF020544,AL110128,BC000955,BC001355,CR533546,CR591137,CR593559,CR600788,CR608038,CR618419,CR618793,CR621029,CR625307,Y17958 NP_619731,NP_005146,CAI17424,CAI17426,CAI18342,CAI18344,CAI41763,CAM25643,CAM25644,CAM25645,CAI41797,CAI41798,CAI41799,CAM26213,CAM26218,CAQ06585,CAQ06590,EAX03591,EAX03592,EAX03593,EAX03594,EAX03595,EAX03596,CAQ10689,CAQ10694,CAQ09614,CAQ09619,AAB47495,AAB80730,AAB80731,CAB53659,AAH01355,CAG38577,CAB46981,Q9UMR5,CAL37712,ACE87590,ACE86903,ADQ32862 Hs.635690 C6orf8|DKFZp564P1516|G14 OTTHUMP00000029377|OTTHUMP00000029378|OTTHUMP00000029380|OTTHUMP00000205020|PPT-2|S-thioesterase G14|VE-statin2|lysosomal thioesterase PPT2|palmitoyl-protein hydrolase 2 protein-coding 1604734 PPTC7 PTC7 protein phosphatase homolog (S. cerevisiae) 20877624,15177553,12477932 160760 NM_139283,AC002350,CH471054,AF385435,AK124744,AY357944,BC111551,CR749216 NP_644812,EAW97927,EAW97928,AAM43836,BAG54087,AAQ57274,AAI11552,CAH18073,Q8NI37 Hs.13854 DKFZp686M07120|MGC133072|TA-PP2C|TAPP2C T-cell activation protein phosphatase 2C-like|protein phosphatase PTC7 homolog protein-coding 1601770 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 18397323,15489334,12477932,11991638,7584044,18029348 23398 NM_015342,AC008560,CH471137,AK025679,AK298175,AK300022,AK301654,BC015385,CR617762,D38552 NP_056157,EAW51352,BAG60446,BAG61834,BAG63131,AAH15385,BAA07555,Q96BP3,ACT64396,ACT64397 Hs.121432 KIAA0073 peptidylprolyl isomerase domain and WD repeat-containing protein 1|spliceosome-associated cyclophilin protein-coding 737129 PPY pancreatic polypeptide This gene belongs to the NPY family and it encodes a protein that is synthesized as a 95 aa polypeptide precursor in the pancreatic islets of Langerhans. It is cleaved into two peptide products; the active hormone of 36 aa and an icosapeptide of unknown function. The hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. [provided by RefSeq] 1580863 2997153,6373251,17325259,17235527,17171555,16359755,15998783,15998659,15966750,15561938,15489334,14988250,12477932,12187924,11825648,11825647,11825640,8244379,7014602,6366786,6138294,6094571,3753985,1194289,782992,18577758,7493937 5539 NM_002722,AC007993,CH471178,M11726,BC032225,BC040033,BI838025,M15788,X00491 NP_002713,EAW51649,AAA60156,AAH32225,AAH40033,AAA60161,CAA25161,P01298,ABM92176,ABM84647 Hs.558368 PNP PP|pancreatic polypeptide Y|pancreatic prohormone 2289501,2289511 BW444_H,BW453_H protein-coding 1345271 PPY2 pancreatic polypeptide 2 11825642,10756099 23614 AC061975,AF085945,AF222903,NR_002181 AAF73875,Q9NRI7 Hs.20588 pseudo 731662 PPYR1 pancreatic polypeptide receptor 1 1580863 8643460,7592911,18826257,15489334,12477932,12007534,11975932,11906964,11825645,11739470,9441761,9417917,7493937,18577758,19229253,19481128,20379614,2834384 5540 AL390716,AY268432,CQ793781,U35232,Z66526,AY649985,AY649986,BC096237,BC096238,BC099637,CR541950,U42387,NM_005972,GM881488,GM889549 NP_005963,CAI13318,AAP23199,CAG26290,AAC50280,CAA91433,AAV68196,AAV68197,AAH96238,AAH99637,CAG46748,AAB07759,P50391,Q4KKW2,CAV09711,CAV28326 Hs.524719 MGC116897|NPY4-R|NPY4R|PP1|Y4 OTTHUMP00000019520|neuropeptide Y receptor type 4 2289527 BW436_H protein-coding 1604644 PQBP1 polyglutamine binding protein 1 PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999 [PubMed 10332029]).[supplied by OMIM] 9875212,10198427,18029348,19119319,18599155,16713569,16493439,16169070,16104847,15782410,15635413,15489334,15355434,15146197,15024694,14634649,12477932,12062018,11163963,11054566,10873650,10593949,10332029,9599645,9545405,7211958,19377476,19847789,20307692,20410308,20211142 10084 AJ973601,CR615668,NM_001032383,NM_001032382,NM_001032381,NM_005710,NM_001032384,AB041832,AF207550,CH471224,AB016533,AB041833,AB041834,AB041835,AB041836,AJ005893,AJ242829,AJ973593,BE385548,BI818141,CD051018,CD365745,NG_015967,NM_001167989,NM_001167990,NM_001167992,NM_144495,AJ973594,AJ973595,AJ973596,AJ973597,AJ973598,AJ973599,AJ973600,AJ973602,AJ973603,AJ973604,AJ973605,AJ973606,AJ973607,BC012358,BE396796,BX362311,BX369697,CN292761,CN292769,CR591501,CR598805,CS691419 CAJ00537,NP_001027555,NP_001027554,NP_001027553,NP_005701,NP_001027556,BAB16702,BAB16703,BAB16704,BAB16705,EAW50735,EAW50736,EAW50737,EAW50738,BAA76400,BAB16706,BAB16707,BAB16708,BAB16709,CAA06750,CAB44309,O60828,Q4VY28,ABM83147,ABM85809,NP_001161461,NP_001161462,NP_001161464,NP_652766,CAJ00538,CAJ00539,CAJ00540,CAJ00541,CAJ00542,CAJ00543,CAJ00544,CAJ00545,CAJ00546,CAJ00547,CAJ00551,CAJ00548,CAJ00549,CAJ00550,AAH12358,CAP12212 Hs.534384 MRX55|MRXS3|MRXS8|NPW38|RENS1|SHS 38 kDa nuclear protein containing a WW domain|OTTHUMP00000025809|OTTHUMP00000025812|PQBP-1|nuclear protein containing WW domain 38 kD|polyglutamine tract-binding protein 1|polyglutamine-binding protein 1 protein-coding 1349834 PQBP2 polyglutamine binding protein 2 9875212 23687 1353360 PQBP3 polyglutamine binding protein 3 9875212 23686 1352148 PQBP4 polyglutamine binding protein 4 9875212 23685 1343655 PQBP5 polyglutamine binding protein 5 9875212 23684 1313123 PQLC1 PQ loop repeat containing 1 737633 15489334,14702039,12477932 737633 80148 NM_025078,NM_001146343,NM_001146345,AC114341,CH471117,CQ834734,AK026031,AK123870,AK126188,AK301881,AK303818,BC030140,CR602428,CR610910,DB475520 NP_079354,NP_001139815,NP_001139817,EAW66635,EAW66636,EAW66637,CAH05582,BAB15329,BAG53976,BAH13575,BAH14059,AAH30140,Q8N2U9 Hs.288284 FLJ22378 OTTHUMP00000163843|OTTHUMP00000206112|PQ-loop repeat-containing protein 1 protein-coding 1323183 PQLC2 PQ loop repeat containing 2 737633 16710414,16344560,15489334,14702039,12477932 737633 54896 NM_001040125,NM_017765,NM_001040126,AL035413,CH471134,AK000327,AK125580,AK130171,AK130175,AK172745,BC015324,CR612612,DA202894,DA560373 NP_001035214,NP_060235,NP_001035215,CAI22229,CAM12847,CAM12848,EAW94882,EAW94883,EAW94884,EAW94885,EAW94886,EAW94887,BAA91088,BAG54217,BAC85296,BAC85298,BAD18732,AAH15324,Q6ZP29 Hs.647620 FLJ20320|FLJ23906|FLJ26661|FLJ26665|RP4-657E11.5 PQ-loop repeat-containing protein 2 protein-coding 1315648 PQLC3 PQ loop repeat containing 3 737633 15815621,15489334,14702039,12477932,8889549,17207965 737633 130814 NM_152391,AC018463,AL161956,CH471053,AA076049,AK001091,AK301439,AK313402,AL548337,BC027625,CR602070,CR624863 NP_689604,AAX93048,EAX00939,EAX00940,EAX00941,EAX00942,BAE46613,BAG62966,BAG36198,AAH27625,Q8N755,ADQ32785 Hs.274415 C2orf22|MGC33602 OTTHUMP00000200416|OTTHUMP00000200635|PQ-loop repeat-containing protein 3|chromosome 2 open reading frame 22 protein-coding 1346711 PR@ proline-rich protein gene cluster 3922350 5541 1601838 PRAC prostate cancer susceptibility candidate This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq] 12477932,11340635 84366 NM_032391,AC091179,CH471109,AF331165,BC030950,BU535394 NP_115767,EAW94717,AAK38837,AAH30950,Q96KF2 Hs.116467 C17orf92|MGC32520 prostate, rectum and colon expressed gene protein|small nuclear protein PRAC protein-coding 1350856 PRAF2 PRA1 domain family, member 2 1580863 18395978,17975142,16481131,15757671,15489334,14702039,12477932,20412121 11230 NM_007213,AF196779,CH471224,AJ005896,AK023433,AK315374,BC021213,CR457023,CR597667,CR605520,CR607931,CR614630 NP_009144,EAW50706,EAW50707,CAA06753,BAG51191,BAG37767,AAH21213,CAG33304,O60831 Hs.29595 FLJ57916|JM4 Jena-Muenchen 4|PRA1 domain family 2|PRA1 family protein 2 protein-coding 1604582 PRAM1 PML-RARA regulated adaptor molecule 1 The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq] 19109227,18391951,16831444,16502582,16502581,15637062,15572693,15489334,12477932,11301322,9570750,8806687,11430826,19623654,16344560 84106 NM_032152,AC092298,AC136469,CH471139,AJ272324,AK308227,BC028012,BI907455,CR619477,DA350460 NP_115528,EAW68917,EAW68918,CAC17767,AAH28012,Q96QH2,ABM81983,ABW03611 Hs.465812 MGC39864|PML-RAR|PRAM-1 PML-RARA target gene encoding an Adaptor Molecule-1|PML-RARA-regulated adapter molecule 1|PRAM protein-coding 1349908 PRAME preferentially expressed antigen in melanoma This gene encodes an antigen that is predominantly expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. This expression pattern is similar to that of other CT antigens, such as MAGE, BAGE and GAGE. However, unlike these other CT antigens, this gene is also expressed in acute leukemias. Five alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq] 1580863 14667819,19027161,18988867,18950857,18815192,18709641,18648365,18587578,18452107,20376794,18295331,17693191,17624586,17534929,17382387,16914202,16860864,16681423,16620968,16179254,15489334,15461802,15240516,12688312,12477932,12419593,11943337,11298586,10741395,10682862,10591208,9753074,9751617,9619397,9466265,9047241,8889548,18088454,18088461,19035174,19473719,19474511,19625708,20805128 23532 NM_206953,NM_006115,NM_206954,NM_206955,CH471095,AF025440,AK129783,AK302188,AK304593,AK312769,AK316395,BC014074,BC022008,BC039731,BM015464,BQ432004,BU151249,CF121110,CR456549,CR591755,CR604772,CR608334,CR611321,CR618501,CR620272,CR623010,U65011,NM_206956,NG_000002 ABM84399,ABM87326,NP_996836,NP_006106,NP_996837,NP_996838,EAW59518,EAW59519,EAW59520,EAW59521,EAW59522,EAW59523,AAC39560,BAH13644,BAH14222,BAG35634,BAH14766,AAH14074,AAH22008,AAH39731,CAG30435,AAC51160,P78395,CAK54580,CAK54879,NP_996839 Hs.30743 CT130|MAPE|OIP4 OIP-4|OTTHUMP00000199312|OTTHUMP00000199314|Opa-interacting protein OIP4|cancer/testis antigen 130|melanoma antigen preferentially expressed in tumors|opa-interacting protein 4|preferentially expressed antigen of melanoma protein-coding 1603300 PRAMEF1 PRAME family member 1 12477932,16710414,14702039 65121 NM_023013,AL022101,AL023753,CH471130,AK125568,AL049686,BC144199,BC040902,NG_027549 NP_075389,CAI22989,CAI22990,CAI19424,CAI19425,EAW71748,EAW71749,BAG54216,CAB41257,AAI44200,O95521,AAH40902,Q8IW67 Hs.454859 RP5-845O24.1|dJ1198H6.1 PRAME family member 1 protein-coding 1603846 PRAMEF10 PRAME family member 10 16710414,15489334,12477932 343071 NM_001039361,AL022101,AL049682,BC112208,BC112210 NP_001034450,CAA17876,CAB41254,AAI12209,AAI12211,O60809 Hs.684629,Hs.715459 MGC138413|MGC138415|RP5-845O24.7 PRAME family member 10 protein-coding 1601784 PRAMEF11 PRAME family member 11 16710414,12477932 440560 NM_001146344,AL022101,AL049680,BC144426 NP_001139816,CAA17880,CAB41252,AAI44427,O60813 Hs.551617 RP5-845O24.2 PRAME family member 11 protein-coding 1604432 PRAMEF12 PRAME family member 12 16710414 390999 NM_001080830,AL023753 NP_001074299,CAA19295,O95522,AAI52935 Hs.156406 PRAME family member 12 protein-coding 1606073 PRAMEF13 PRAME family member 13 400736 NM_001024661,AL365443 NP_001019832,CAH71447,Q5VWM6 Hs.531192 PRAME family member 13 protein-coding 1606052 PRAMEF14 PRAME family member 14 16710414 729528 NM_001099854,AL603890 NP_001093324,CAI16057,Q5SWL7 Hs.449964 PRAME family member 14 protein-coding 1604124 PRAMEF15 PRAME family member 15 653619 NM_001098376,AL603890,BX470067,AK124292,BC101343,BC137391,BC171794 NP_001091846,CAI23593,AAI01344,AAI37392,Q5VWM5,AAI71794 Hs.631873,Hs.551617 PRAMEF9 OTTHUMP00000009645|PRAME family member 9/15 protein-coding 1602776 PRAMEF16 PRAME family member 16 12477932 654348 NM_001045480,AL365443 NP_001038945,CAH71445,Q5VWM1 Hs.728113 PRAME family member 16 protein-coding 1602373 PRAMEF17 PRAME family member 17 16710414,12477932 391004 NM_001099851,AL603749,CH471167,BC144662,BC146858 NP_001093321,CAH70435,EAW51687,AAI44663,AAI46859,Q5VTA0 Hs.728113 MGC178210|MGC181961 PRAME family member 17 protein-coding 1626253 PRAMEF18 PRAME family member 18 391003 AL365443,NM_001099850 CAH71446,Q5VWM3,NP_001093320 Hs.712521 PRAME family member 18 protein-coding 1602375 PRAMEF19 PRAME family member 19 16710414 645414 NM_001099790,AL603890 NP_001093260,CAI16059,Q5SWL8 Hs.700537 PRAME family member 19 protein-coding 1606783 PRAMEF2 PRAME family member 2 16710414,15489334,15252450,12477932 65122 NM_023014,AL022101,CH471130,AL049674,BC075008,BC075009,DQ786308 NP_075390,CAA17878,EAW71753,CAB41247,AAH75008,AAH75009,O60811 Hs.104991 DJ845O24.3|FLJ43580|RP5-845O24.1 PRAME family member 2 protein-coding 1626252 PRAMEF20 PRAME family member 20 16710414 645425 NM_001099852,AL603749 NP_001093322,CAH70437,Q5VT98 Hs.700561 PRAME family member 20/21 protein-coding 1604150 PRAMEF21 PRAME family member 21 391001 NM_001100114,AL365443 NP_001093584,CAH71444,Q5VT98 Hs.700560 PRAMEF20 OTTHUMT00000008157|PRAME family member 20/21 protein-coding 2298737 PRAMEF22 PRAME family member 22 16710414 653606 NM_001100631,CR589905 NP_001094101,CAM45848,A3QJZ6 Hs.712522 PRAMEF3L PRAME family member 22|PRAME family member 3-like protein-coding 2300353 PRAMEF23 PRAME family member 23 16710414 729368 XM_001130065,BX640550 XP_001130065,A6NMV5 PRAMEF5L PRAME family member 23 protein-coding 1606369 PRAMEF3 PRAME family member 3 16710414 401940 NM_001013692,BX649449 NP_001013714,CAH71686,Q5TYW8,AAI48461,AAI53057 Hs.558935 OTTHUMP00000011037|PRAME family member 3 protein-coding 1606074 PRAMEF4 PRAME family member 4 16710414 400735 NM_001009611,AL022101,AL049681 NP_001009611,CAI22991,CAB41253,O60810 Hs.551617 RP5-845O24.6 PRAME family member 4 protein-coding 1603849 PRAMEF5 PRAME family member 5 16710414,12477932 343068 NM_001013407,BX649449,BC101344,BC130274,BC130276 NP_001013425,CAH71689,AAI01345,AAI30275,AAI30277,Q5TYX0,ADR83031 Hs.567864 PRAME family member 5 protein-coding 1603804 PRAMEF6 PRAME family member 6 16710414,12477932 440561 NM_001010889,AL358783,BC101342 NP_001010889,CAH73924,AAI01343,Q5VXH4 Hs.567864 OTTHUMP00000001964|PRAME family member 6 protein-coding 1603801 PRAMEF7 PRAME family member 7 16710414,12477932 441871 NM_001012277,AL358783,BC140755,BC144565 NP_001012277,CAH73922,AAI40756,AAI44566,Q5VXH5 Hs.553832 MGC178110 OTTHUMP00000001963|PRAME family member 7 protein-coding 1604149 PRAMEF8 PRAME family member 8 16710414 391002 NM_001012276,AL365443 NP_001012276,CAH71450,Q5VWM4 Hs.631872 PRAME family member 8 protein-coding 1603847 PRAMEF9 PRAME family member 9 16710414,15489334,14702039,12477932 343070 NM_001010890,AL365443,AK124292,BC101343,BC137391,BC171794 NP_001010890,CAH71448,AAI01344,AAI37392,AAI71794,Q5VWM5 Hs.551617,Hs.631873 PRAMEF15 PRAME family member 9/15 protein-coding 2293902 PRAMEL preferentially expressed antigen in melanoma-like 649179 XM_001717401,XM_001719151,AK131325,XM_002343768 XP_001717453,XP_001719203,BAD18485,Q6ZN90,XP_002343809 Hs.553939 FLJ16327 preferentially expressed antigen in melanoma-like protein-coding 1354045 PRAP1 proline-rich acidic protein 1 12975309,12477932,9065197,14583459,17207965 118471 NM_145202,NM_001145201,AL360181,CH471211,AF123768,AF421885,AY158074,AY358908,BC029447,BC061643,BC071872,BC093853,BC101743,BC143590,BC143591,BC143592,DQ884405 NP_660203,NP_001138673,CAH70283,EAW61336,AAP97247,AAL16670,AAN87018,AAQ89267,AAH29447,AAH61643,AAH71872,AAH93853,AAI01744,AAI43591,AAI43592,AAI43593,ABI63372,Q96NZ9,ADQ32013 Hs.15951 MGC126792|PRO1195|RP11-122K13.6|UPA proline-rich acidic protein 1 protein-coding 1348170 PRB1 proline-rich protein BstNI subfamily 1 This gene encodes a precursor for proline-rich salivary proteins. This and five other genes that encode salivary proline-rich proteins (PRPs)form a PRP gene cluster in the chromosomal 12p13 region. Precursor salivary PRPs are cleaved multiple times to produce a diversity of secreted peptides. Alleles of this gene exhibit tandem repeat length variation in the coding region as well as polymorphic cleavage sites and polymorphic stop codons. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 12477932,11422372,11329013,9796777,9487127,8422499,8317492,7118863,6924859,6810092,6671974,6089212,3521730,3055850,2993301,2851479,1618808,877561 5542 NM_199353,NM_199354,AC010176,CH471094,K02575,K02576,M97220,S52986,S62928,S62929,S62941,X07516,X07517,BC044827,BC141917,BG216715,BX485626,BX487087,K03204,K03205,K03206,NM_005039 NP_005030,NP_955385,NP_955386,EAW96233,EAW96234,AAA36502,AAA36503,AAB05816,AAA13341,AAB27288,AAB27289,CAA30394,CAA30395,AAH44827,AAI41918,AAA60185,AAA60186,AAA60187,P04280,Q86YA1 Hs.631726 PM|PMF|PMS|PRB1L|PRB1M BstNI type basic salivary proline-rich protein 1|PRB1 large length copy|basic proline-rich protein|basic salivary proline-rich protein 1|parotid middle band protein|salivary proline-rich protein 1|salivary protein Pe protein-coding 1344983 PRB2 proline-rich protein BstNI subfamily 2 15923424,15077161,12477932,8554050,8422499,7118863,6924859,6874669,6344862,6089212,3178140,2993301,2851479,2307469,1849422 653247 NM_006248,AC078950,AC126171,CH471094,K02577,K02578,M97221,S80905,BX484538,K03208 NP_006239,EAW96235,AAA36504,AAA36505,AAB50686,AAA60189,P02812,Q15217,Q15218 Hs.654486 PRPPRB1|Ps|cP7 Basic proline-rich peptide P-E|IB-9|OTTHUMP00000211205|basic salivary proline-rich protein 2|con1 glycoprotein|proline-rich protein BstNI, subfamily-2 (parotid size variant)|salivary proline-rich protein 2 protein-coding 1345078 PRB3 proline-rich protein BstNI subfamily 3 The protein encoded by this gene is a proline-rich salivary protein. It is a major constituent of parotid saliva. This protein is proposed to act as a bacterial receptor. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. [provided by RefSeq] 1580863 12477932,10737800,8406834,7566098,3055850,2993301,2851479,2171329,1894623,4062880 5544 AC010176,CH471094,X07637,X07881,AA376677,AA376715,BC096209,BC096210,BC096211,BC096212,BF155634,BX484729,BX485708,BX485709,NM_006249,NG_013305 NP_006240,EAW96230,CAA30477,CAA30728,AAH96209,AAH96210,AAH96211,AAH96212,Q04118,Q4VAY2 Hs.73031 G1|MGC116862|MGC116863|MGC116864|PRG BstNI type basic salivary proline-rich protein 3|G1 parotid salivary glycoprotein|basic salivary proline-rich protein 3|parotid salivary glycoprotein G1|proline-rich protein G1 protein-coding 1352111 PRB4 proline-rich protein BstNI subfamily 4 The protein encoded by this gene is a proline-rich salivary protein. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. 1580863 8373986,17294201,12477932,11422372,9487127,8554050,8422499,6841349,6810092,6377992,3220251,3055850,2993301,2851479 5545 NM_002723,AC010176,CH471094,S80916,X07704,X07715,X07882,BC035362,BC128191,BC130386,K03207 NP_002714,EAW96231,AAB50687,CAA30542,CAA30543,CAA30729,AAI28192,AAI30387,AAA60188,P10163 Hs.528651 Po BstNI type basic salivary proline-rich protein 4|basic salivary proline-rich protein 4|parotid 'o' protein|parotid o protein|saliary protein Po|salivary proline-rich protein II-1|salivary proline-rich protein Po protein-coding 1323372 PRC1 protein regulator of cytokinesis 1 This gene encodes a protein that is involved in cytokinesis. The encoded protein is at high level during S and G2/M and drop dramatically after cell exit mitosis and enter G1. It is located in the nucleus during interphase, and becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 20691902,20889853,14744859,9885575,18570919,17233835,16964243,16603632,16565220,16189514,15625105,15616196,15531928,15489334,15297875,12477932,12082078,20581827,17351640,19447967,19468300,19561070,19609347,20056645,20379614 9055 BX647317,NM_003981,NM_199414,AC068831,CH471101,AF044588,AK297117,AK304094,AK312600,BC003138,BC005140,BG773441,BG823292,BU634391,BX457401,NM_199413,CR625544,CS537414,CS537416,CS537418 NP_955445,NP_003972,NP_955446,EAX02133,EAX02134,EAX02135,EAX02136,EAX02137,EAX02138,AAC02688,BAG59623,BAG65000,AAH03138,AAH05140,O43663,ABM83859,ABM87181,CAM84944,CAM84945,CAM84946 Hs.366401 ASE1|MGC1671|MGC3669 anaphase spindle elongation 1 homolog|protein regulating cytokinesis 1|protein regulator of cytokinesis 1 protein-coding 1353961 PRCA1 prostate cancer 1 1565627 337932 1319153 PRCC papillary renal cell carcinoma (translocation-associated) In a subset of papillary renal cell carcinomas, a t(X;1)(p11;q21) chromosome translocation has been repeatedly reported and is thought to be the cause of the cancer. As a result of the translocation, the transcription factor TFE3 on the X chromosome becomes fused to this gene on chromosome 1. The fused gene results in the fusion of N-terminal proline-rich region of the protein encoded by this gene to the entire TFE3 protein. This protein has been shown to interact with the mitotic checkpoint protein MAD2B, which suggests that the dominant-negative effect of the fusion protein with TFE3 may lead to a mitotic checkpoint defect. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 7853572,20029029,17081983,15489334,14718574,14702039,12477932,11717438,11435707,11313942,10644981,8986805,8872474,8431910,7507566,19422821 5546 NG_008138,AL590666,CH471121,X99720,AA846273,AK126403,AK289872,BC004913,BC010450,BG746454,NM_005973,BM423590,BU942864,CR592333,CR592335,CR593687,CR597848,CR617255,X97124,S69270 NP_005964,CAI16350,CAI16351,EAW52908,EAW52909,CAA68060,BAF82561,AAH04913,AAH10450,CAA65791,Q92733,Q96FT4 Hs.516948 MGC17178|MGC4723|RCCP1|TPRC papillary renal cell carcinoma translocation-associated gene protein|proline-rich protein PRCC protein-coding 1603415 PRCD progressive rod-cone degeneration 16938425,14702039,12477932,20507925 768206 NM_001077620,AC015802,AK054729,AK125617,BC043413,BC146898,BC146904,CR600312,DQ390338,AL567583,NG_016702,NR_033357 NP_001071088,AAI46899,AAI46905,ABD17429,Q00LT1 Hs.634380 RP36 progressive rod-cone degeneration protein protein-coding 1317272 PRCP prolylcarboxypeptidase (angiotensinase C) The protein encoded by this gene is a lysosomal prolylcarboxypeptidase, which cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 20628086,19913121,20540760,28321,20516604,18656443,16681991,15489334,14996700,14702039,12768436,12477932,12123826,11830581,9325062,8344943,7626287,4297812,20517885,18396440,20079160 5547 NM_199418,AP001646,CH471076,AB451270,AB451397,AK090847,AK091786,AK312919,BC001500,BI827978,BX537480,CR594404,CR596369,CR597669,CR600721,CR610882,CR619958,CR625029,DB461615,L13977,NM_005040,AK302386 NP_005031,NP_955450,EAW75074,EAW75075,EAW75076,BAG70084,BAG70211,BAG52238,BAG52417,BAG35764,AAH01500,AAA99891,P42785,ABM83994,ABM87320,BAH13692 Hs.523936 HUMPCP|MGC2202|PCP angiotensinase C|lysosomal Pro-X carboxypeptidase|lysosomal carboxypeptidase C|proline carboxypeptidase|prolylcarboxypeptidase isoform 1 preproprotein protein-coding 1348235 PRD primary retinal dysplasia 8401512 5548 1323391 PRDM1 PR domain containing 1, with ZNF domain This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq] 1580863 8921366,8168136,8033216,10713181,16699504,17877160,19124609,19530237,19563034,19717648,19735688,19828629,19828640,19838193,19838195,19898481,19915048,20047096,20379614,19788443,19760754,20944005,20973039,1851123,19433448,19269192,19234190,19194464,19047678,18992153,18845144,18604866,18596541,18583325,18552212,18370921,18354204,18256039,18235046,18192112,18089822,18071884,17682124,17379744,17264218,17213024,17043021,16849320,16765445,16713569,16585013,16547239,16492805,16424392,16002735,14985713,12626569,12477932,12453881,12165517,12150891,11877292,11342629,11067898,9887105,20530581,20859709 639 NM_001198,NM_182907,AL022067,AL358952,CH471051,AF084199,AK129768,AK289556,AK301341,AL832963,AY198414,AY198415,BC103832,BC103833,BC103834,BC103835 CAQ52574,NP_001189,NP_878911,CAI42295,CAI42296,CAQ52606,CAQ52608,CAI18902,EAW48419,EAW48420,EAW48421,EAW48422,AAC33300,BAF82245,BAG62889,CAH56276,AAO45623,AAO45624,AAI03833,AAI03834,AAI03835,AAI03836,O75626,Q3SYG0,Q5T4E8,Q658W0,Q86WM7,ACE87395,ACE86710 Hs.436023 BLIMP1|MGC118922|MGC118923|MGC118924|MGC118925|PRDI-BF1 B-lymphocyte-induced maturation protein 1|BLIMP-1|OTTHUMP00000202173|PR domain zinc finger protein 1|PR domain-containing protein 1|PR-domain zinc finger protein 1|PRDI-binding factor 1|PRDI-binding factor-1|beta-interferon gene positive regulatory domain I-binding factor|beta-interferon gene positive-regulatory domain I binding factor|positive regulatory domain I-binding factor 1 protein-coding 1348926 PRDM10 PR domain containing 10 The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 12175877,10574462,12477932,19773279,20095854 56980 NM_199437,NM_020228,NM_199439,NM_199438,AP003041,AP003326,AP003327,CH471065,AB033057,AF275817,AF503171,AK000234,AK310354,AL833172,BC112934,BC117415,BC143612,BC143613,BX648944 NP_955469,NP_064613,NP_955471,NP_955470,EAW67761,BAA86545,AAF87243,AAP30847,BAA91026,AAI12935,AAI17416,AAI43613,AAI43614,Q9NQV6 Hs.275086 KIAA1231|MGC131802|PFM7 PR domain zinc finger protein 10|PR domain-containing protein 10|PR-domain family member 7|PRDM zinc finger transcription factor|tristanin protein-coding 1343614 PRDM11 PR domain containing 11 14702039,14675547,10668202 56981 NM_020229,AC103681,AC103682,CH471064,AF275818,AK094792,AK097878 NP_064614,EAW68048,EAW68049,AAF87244,BAC04425,BAC05192,Q8N1K6,Q9NQV5,AAI48348 Hs.178715 PFM8 PR domain-containing protein 11|PR-domain containing protein 11 protein-coding 1351660 PRDM12 PR domain containing 12 1580863 14675547,14523459,11274145,10668202 59335 NM_021619,AL359092,CH471090,AY004252 NP_067632,EAW87940,AAG13447,Q9H4Q4,AAI72255,CAM45744 Hs.495311 PFM9 PR domain zinc finger protein 12|PR domain-containing protein 12|PR-domain containing protein 12|PR-domain zinc finger protein 12 protein-coding 1322406 PRDM13 PR domain containing 13 1580863 14574404,12800201,11181995,19336002,21102462 59336 NM_021620,AL035087,AL137784,CH471051,AY004253,AY130010 NP_067633,CAI22063,CAI22064,CAI19763,CAI19764,EAW48461,EAW48462,AAG13448,AAN05093,Q7Z5E7,Q9H4Q3,AAI56414,AAI72472 Hs.287386 MU-MB-20.220|PFM10 OTTHUMP00000016899|PR domain zinc finger protein 13|PR domain-containing protein 13|PR-domain containing protein 13|PR-domain zinc finger protein 13 protein-coding 1316344 PRDM14 PR domain containing 14 The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM14, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM] 1580863 18194669,17942894,15489334,14702039,14675547,12477932,10737800,10668202,20840815,20953172,20211142 63978 NM_024504,AC090574,CH471068,AF319458,AK022595,BC052311,BF770200 NP_078780,EAW86962,AAG39635,BAB14120,AAH52311,Q9GZV8,ABZ92370,ADR82707 Hs.287532 MGC59730|PFM11 PR domain zinc finger protein 14|PR domain-containing protein 14|PR-domain zinc finger protein 14 protein-coding 1320736 PRDM15 PR domain containing 15 1580863 15904895,14702039,12477932,12036298,12036297,10830953,19340012 63977 AF276513,AF426259,AF426260,AK123273,AL109788,AL355710,AY063456,AY078498,BC067102,NM_022115,AB126081,AP001580,AP001618,AP001619,AP001745,AP002955,CH471079,AB051812,AB051813,AB051814,AB051815,AB209162,AF086532,NM_001040424 AAF78093,AAM53515,AAM53516,AAL60596,AAL85487,AAH67102,P57071,Q4W8S0,Q4W8S1,Q4W8S3,Q4W8S4,Q4W8S5,Q59GE7,Q6NXF8,NP_001035514,NP_071398,BAA95527,EAX09584,EAX09585,EAX09586,EAX09587,BAD99015,BAD99016,BAD99017,BAD99018,BAD99019,BAD99020,BAD92399 Hs.722688,Hs.726680 C21orf83|PFM15|ZNF298 OTTHUMP00000109282|OTTHUMP00000207901|PR domain zinc finger protein 15|PR domain-containing protein 15|zinc finger protein 298 protein-coding 1353101 PRDM16 PR domain containing 16 The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 11050005,19285866,19240061,19049980,18767145,18202228,16637659,16598304,16582916,14712237,14702039,14656887,12557231,12477932,12168954,11214970,8547101,4063527,12816872,20634891,19567523,19641492,20101261,20379614,20339536 63976 NM_022114,NM_199454,AL008733,AL354743,AL512383,AL590438,CH471130,AB051462,AB078876,AF294278,AI623202,AK093853,AK094178,AK309078,BC110593,BC161614,BQ897896,BX092842,XM_002346898,XM_003120575,XM_003120576 NP_071397,NP_955533,CAI19629,CAI19630,CAI19631,CAI22788,CAI22789,CAI22790,CAH71132,CAH71133,CAH71134,CAH71529,CAH71530,CAH71531,EAW71449,EAW71450,EAW71451,BAB21766,BAB84297,AAG33382,AAI61614,Q9HAZ2,AAI68363,XP_002346939,XP_003120623,XP_003120624 Hs.99500 KIAA1675|MEL1|MGC166915|PFM13 MDS1/EVI1-like gene 1|OTTHUMP00000000611|OTTHUMP00000000612|OTTHUMP00000000613|OTTHUMP00000221381|OTTHUMP00000221382|OTTHUMP00000221383|PR domain zinc finger protein 16|PR domain-containing protein 16|PR-domain zinc finger protein 16|transcription factor MEL1 protein-coding 1348506 PRDM2 PR domain containing 2, with ZNF domain This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20594067,20960050,21041608,7590293,8654390,7538672,18029348,19124506,19064572,18852888,18712668,18488713,18037365,17963297,17922684,17693662,17356055,17205536,17103461,17081983,16953217,16710414,16501248,15809732,15579774,15488642,15309726,15302935,14633678,14534544,12477932,12472571,12082534,12002276,11719434,10737800,10706618,9766644,9334209,9006946,8661032,15765097,19602237,19746436,19843671,20159667,20508921,9632640,20878080 7799 NM_012231,NM_015866,NM_001007257,NM_001135610,AF472587,AL031277,AL359771,AL583942,CH471167,AB208877,AI651991,AK123605,AK124197,AK293725,AK300441,AK307377,AK308135,AK311678,AW444997,BC014468,BC032768,BC140012,BF378912,BM008289,BU621515,BX647310,CR612351,D45132,U17838,U23736 NP_036363,NP_056950,NP_001007258,NP_001129082,CAB37643,CAI19342,CAI19343,CAI19344,CAH70942,CAH70943,EAW51695,EAW51696,EAW51697,EAW51698,BAD92114,BAG57154,BAG62164,BAA08110,AAC50820,AAA87023,Q13029,Q59H82,Q5THJ0,Q5THJ1,AAI72414 Hs.371823 HUMHOXY1|KMT8|MTB-ZF|RIZ|RIZ1|RIZ2 GATA-3 binding protein G3B|GATA-3-binding protein G3B|MTE-binding protein|OTTHUMP00000009687|OTTHUMP00000221538|PR domain zinc finger protein 2|PR domain-containing protein 2|lysine N-methyltransferase 8|retinoblastoma protein-binding zinc finger protein|retinoblastoma protein-interacting zinc finger protein|zinc finger protein RIZ|zinc-finger DNA-binding protein protein-coding 732265 PRDM4 PR domain containing 4 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq] 1580863 12371150,20379614,10552934,15489334,15231748,14702039,12477932 11108 NM_012406,AC007622,AL832804,CH471054,AF144757,AK056378,AL133083,BC035581,BC068562,BU502236,CR611729 NP_036538,CAI46888,EAW97804,EAW97805,AAD55249,BAG51692,CAB61401,AAH35581,AAH68562,Q5GMF9,Q6NUK0,Q9UKN5,ABM82163,ABM85348 Hs.506655 MGC45046|PFM1 PR domain zinc finger protein 4|PR domain-containing protein 4|PR-domain zinc-finger protein PFM1 protein-coding 1318295 PRDM5 PR domain containing 5 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq] 1580863 20332099,20379614,17903298,17699856,17636019,15077163,14702039,14675547,12477932,10668202,20213097 11107 NM_018699,AC025741,AC104068,AC104795,CH471056,AF272897,AK056352,AK310958,AK314293,AW341546,BC030136,BC047115,BC066942,BC121037,BC121038,BM563688,BX646150 NP_061169,EAX05267,EAX05268,EAX05269,AAF78077,BAG51686,AAH66942,AAI21038,AAI21039,Q0VAI9,Q9NQX1 Hs.666782,Hs.669312 PFM2 OTTHUMP00000219783|PR domain zinc finger protein 5|PR domain-containing protein 5 protein-coding 1350258 PRDM6 PR domain containing 6 1580863 20379614 93166 AK297992,AC008548,AC106786,AF272898,AF272899,NM_001136239 BAG60300,Q9NQX0,NP_001129711,AAF78078,AAF78079 Hs.135118 PR domain zinc finger protein 6|PR domain-containing protein 6|PR-domain zinc finger protein 6|putative histone-lysine N-methyltransferase PRDM6 protein-coding 1313164 PRDM7 PR domain containing 7 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 18231586,17916234,14759258,14675547,12477932,10668202 11105 NM_052996,AC133919,CH471184,AF274347,AF274348,AL137711,AM690991,AM690992,AM690993,BC107033,NM_001098173 NP_001091643,NP_443722,EAW66653,EAW66654,EAW66655,EAW66656,EAW66657,AAF78084,AAF78085,CAM84449,CAM84450,CAM84451,AAI07034,Q9NQW5 Hs.406695 MGC129525|PFM4|ZNF910 PR domain zinc finger protein 7|PR domain-containing protein 7|PR-domain family protein 4|probable histone-lysine N-methyltransferase PRDM7 protein-coding 1323184 PRDM8 PR domain containing 8 1580863 19430483,15489334,14675547,12477932,10668202 56978 NM_001099403,AC021127,CH471057,AF275815,AI077328,AK292137,BC027929,BC058908,BC071584,BP219935,NM_020226 NP_064611,NP_001092873,EAX05851,EAX05852,EAX05853,EAX05854,EAX05855,EAX05856,EAX05857,EAX05858,AAF87241,BAF84826,AAH27929,AAH71584,Q05CA1,Q9NQV8 Hs.373642 PFM5 OTTHUMP00000219209|OTTHUMP00000219210|PR domain zinc finger protein 8|PR domain-containing protein 8|PR-domain containing protein 8 protein-coding 1349245 PRDM9 PR domain containing 9 The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM9, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM] 20041164,20044538,20044539,20044541,20818382,19168450,18941885,18231586,14675547,10668202 56979 GU216222,GU216223,NM_020227,HM210983,HM210984,HM210986,HM210999,AC025451,CH471118,AF275816,AK301776,DQ388610 ADA71145,ADA71146,ADK09877,ADK09878,ADK09880,ADK09893,NP_064612,EAX10738,EAX10739,EAX10740,AAF87242,BAG63234,ABD47939,Q9NQV7 Hs.283096 MEISETZ|PFM6|PRMD9|ZNF899 PR domain zinc finger protein 9|PR domain-containing protein 9|PR-domain containing protein 9|histone-lysine N-methyltransferase PRDM9 protein-coding 733744 PRDX1 peroxiredoxin 1 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863 12196529,17540176,18029348,19298244,19406930,19737972,19766572,19812042,19902980,20237496,20381070,17909037,8089076,11986303,17603937,19286652,19135121,19016754,18992915,18977241,18606987,18549262,18501712,18413821,18281480,18172504,17786348,17761673,17707450,17606720,17601350,17519234,17176052,17081065,16710414,16677601,16583711,16376335,16278420,16189514,16169070,15955662,15864612,15635413,15592455,15489334,15448164,15105503,14703116,12853451,12714748,12650976,12517450,12477932,12421812,12161445,12080185,12059788,11904290,11771746,11752456,11497302,10530780,10419887,9388242,9334312,8496166,8188254,8123050,8026862,7702627,20029029,20610706,20647304,16341674,20877624 5052 NM_002574,NM_181696,NM_181697,AL355480,AL451136,CH471059,CQ877459,DQ297142,X72296,AB451262,AB451388,AI912389,AK131049,AK311898,AV691526,BC007063,BC021683,BM762399,BT019740,BU564066,CR407652,CR592546,CR593924,CR595111,CR612185,CR620467,L19184,X67951,BM740381,BM787105,BM827394,CD638470,NM_001202431 NP_002565,NP_859047,NP_859048,CAI13095,CAI13096,EAX06975,EAX06976,EAX06977,EAX06978,EAX06979,EAX06980,EAX06981,EAX06982,CAH59516,ABB84465,BAG70076,BAG70202,BAG34839,AAH07063,AAH21683,AAV38545,CAG28580,AAA50464,CAA48137,Q06830,ABM84099,ABM87471,NP_001189360 Hs.180909 MSP23|NKEFA|PAG|PAGA|PAGB|PRX1|PRXI|TDPX2 NKEF-A|OTTHUMP00000009235|OTTHUMP00000009237|natural killer cell-enhancing factor A|natural killer-enhancing factor A|peroxiredoxin-1|proliferation-associated gene A|proliferation-associated gene protein|thioredoxin peroxidase 2|thioredoxin-dependent peroxide reductase 2 protein-coding 733019 PRDX2 peroxiredoxin 2 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. The crystal structure of this protein has been resolved to 2.7 angstroms. Transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 8144038,16130169,12943237,11904290,19424615,19286652,19165527,19151395,19061854,18977241,18718523,18682255,18606987,18606608,12477932,12421812,12080185,11981869,11771746,11497302,11410278,10873855,10841776,10751418,9150948,8670254,8313871,8123012,8041738,8026862,7607688,1286667,18593714,18387321,18378575,18022079,18003920,17601350,17519234,17329258,17145963,17105810,16236267,15936593,15902258,15864612,15489334,15105503,14702039,12963914,12853451,12650976,17524271,20363977,17540176,18553980,19561357,19584157,19666612,19716412,19896490,20237496,18578994,20840079 7001 CR541789,CR594988,CR598714,CR599094,CR599252,CR600194,CR601986,CR602223,CR602550,CR605244,CR606963,CR611026,CR615046,CR616344,CR620967,CR622487,CR622535,CR623841,CR624097,CR625757,L19185,X82321,Z22548,NM_181738,AC018761,CH471106,DQ231563,AK022395,AK289485,AK293957,AL600939,BC000452,BC003022,BC039428,BC064138,BG705975,CR450356,NM_005809 CAG29352,CAG46588,AAA50465,CAA57764,CAA80269,P32119,ABM86329,ABW03778,NP_005800,NP_859428,EAW84308,EAW84309,EAW84310,EAW84311,EAW84312,ABB02182,BAF82174,BAG57331,AAH00452,AAH03022,AAH39428 Hs.432121 MGC4104|NKEFB|PRP|PRX2|PRXII|TDPX1|TPX1|TSA NKEF-B|natural killer cell-enhancing factor B|natural killer-enhancing factor B|peroxiredoxin-2|thiol-specific antioxidant 1|thiol-specific antioxidant protein|thioredoxin peroxidase 1|thioredoxin-dependent peroxide reductase 1|torin protein-coding 1354492 PRDX2P1 peroxiredoxin 2 pseudogene 1 7607688 359844 NG_002915,AL356750 pseudo 1349610 PRDX3 peroxiredoxin 3 This gene encodes a protein with antioxidant function and is localized in the mitochondrion. This gene shows significant nucleotide sequence similarity to the gene coding for the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase. Expression of this gene product in E. coli deficient in the C22-subunit gene rescued resistance of the bacteria to alkylhydroperoxide. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologues suggest that these genes consist of a family that is responsible for regulation of cellular proliferation, differentiation, and antioxidant functions. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 20718351,16385451,18778410,19462976,19819956,20043069,20237496,7733872,18262354,17060495,12492477,18195003,12011429,18205602,15750338,17893648,19424615,19176523,19135121,18977241,18378575,17601350,17574212,17548047,16236267,16189514,15489334,15280382,15164054,12650976,12530083,12477932,12080185,12059788,11904290,11771746,11591653,11285261,9373149,9363753,8125298,1286669,20929858,20840079,20877624 10935 CR590042,CR595002,CR596127,CR597520,CR597664,CR601617,CR603233,CR604835,CR604854,CR605883,CR609024,CR609757,CR612566,CR614087,CR616834,CR618914,CR621101,CR621242,CR622286,CR622960,CR623202,CR625139,D49396,EF036492,X85129,NM_014098,AL355861,CH471066,DQ298752,AF118073,AK130897,AK222659,AK313169,BC002685,BC007062,BC008435,BC009601,BC021691,BC022373,BC059169,BC111397,BT020007,CR450344,NM_006793 BAA08389,ABO65078,CAA59443,P30048,Q14579,Q53HC2,Q9UHU0,NP_006784,NP_054817,CAI15802,EAW49396,EAW49397,EAW49398,EAW49399,ABB84468,AAF22017,BAD96379,BAG35987,AAH02685,AAH07062,AAH08435,AAH09601,AAH21691,AAH22373,AAH59169,AAI11398,AAV38810,CAG29340 Hs.523302 AOP-1|AOP1|MER5|MGC104387|MGC24293|PRO1748|SP-22 HBC189|antioxidant protein 1|peroxiredoxin III|peroxiredoxin-3|protein MER5 homolog|prx-III|thioredoxin-dependent peroxide reductase, mitochondrial protein-coding 4889295 PRDX3P1 peroxiredoxin 3 pseudogene 1 100419031 AL021707,NG_027433 pseudo 4889391 PRDX3P2 peroxiredoxin 3 pseudogene 2 100128092 AL513497,NG_022715 pseudo 4889363 PRDX3P3 peroxiredoxin 3 pseudogene 3 100128902 AC017111,NG_021959 pseudo 731497 PRDX4 peroxiredoxin 4 The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq] 1580863 20610706,9388242,19364504,18977241,18272409,18052930,17644091,17601350,16236267,15952740,15489334,12927788,12477932,12080185,12059788,11358524,20157331,20237496,21057456 10549 NM_006406,NG_012563,AC093011,CH471074,BC003609,BC007107,BC016770,CR541668,CR541705,CR594904,CR619377,U25182 NP_006397,EAW98996,AAH03609,AAH07107,AAH16770,CAG46469,CAG46506,AAB95175,Q13162,ABM84525,ABM85953 Hs.83383 AOE37-2|PRX-4 antioxidant enzyme AOE372|peroxiredoxin IV|peroxiredoxin-4|prx-IV|thioredoxin peroxidase (antioxidant enzyme)|thioredoxin peroxidase AO372|thioredoxin-dependent peroxide reductase A0372 protein-coding 1347956 PRDX5 peroxiredoxin 5 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. This protein interacts with peroxisome receptor 1. The crystal structure of this protein in its reduced form has been resolved to 1.5 angstrom resolution. This gene uses alternate in-frame translation initiation sites to generate mitochondrial or peroxisomal/cytoplasmic forms. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 70622,1580863 10514471,10424490,10095767,1286669,16169070,14741336,14732291,14662316,12517450,12477932,12417342,11832487,11518528,10931946,10751410,10679306,20877624,15046979,18262354,10521424,19336475,19016754,18977241,18489898,18378575,18219526,17892856,17628720,17623739,17601350,16817890,16781710,15848167,15785239,15489334,15304327,15280035,15276323,19615732,20305821,21102463,20596022 70622 25824 NM_012094,NM_181651,NM_181652,AP001453,AP003774,CS185549,DQ247769,AF110731,AF112212,AF124993,AF197952,AF231705,AF242525,AJ249483,BC113723,BC113725,BC143849,BC171733,BU598032,CR457203,CR602131,CR606732,CR608340,CR609622,CR622804,CR625609,BC110983,HH826017 NP_036226,NP_857634,NP_857635,CAJ42730,ABB05181,AAF03750,AAF17200,AAF27531,AAF04856,AAF78899,AAF99605,CAB62210,AAI10984,AAI13724,AAI13726,AAI43850,AAI71733,CAG33484,P30044,CBX32673,ADR82883 Hs.502823 ACR1|AOEB166|B166|MGC117264|MGC142283|MGC142285|PLP|PMP20|PRDX6|PRXV|SBBI10 Alu co-repressor 1|TPx type VI|alu corepressor 1|antioxidant enzyme B166|liver tissue 2D-page spot 71B|peroxiredoxin V|peroxiredoxin-5, mitochondrial|peroxisomal antioxidant enzyme|prx-V|thioredoxin peroxidase PMP20|thioredoxin reductase protein-coding 1602898 PRDX6 peroxiredoxin 6 The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq] 20485444,20532202,17207965,20877624,10893423,9497358,18029348,19566940,19405953,19236840,19165527,19140803,18826942,18619034,18386021,18025307,17980029,17653765,16710414,16330552,20354123,16236267,16186110,15941719,15890616,15592455,15489334,14751239,12665801,12650976,12477932,12193653,12121978,12059788,11677226,11233154,9587003,9050990,8999971,8313871,7788527,2730891,1602151,1286669,240188,21166495,15604093,18973804,19572226,19700648,19889963,19937138,20237496,19188445 9588 NM_004905,AL139142,CH471067,DQ230990,AJ844621,AK289352,AK300680,BC025421,BC035857,BC053550,CR591733,CR594578,CR595962,CR598010,CR599058,CR600822,CR603796,CR604144,CR606922,CR608793,CR609026,CR611099,CR614645,CR618386,CR621206,CR623331,D14662,HH826019 ADQ32658,NP_004896,CAI20936,EAW90944,EAW90945,ABB02185,CAH59743,BAF82041,BAG62363,AAH35857,AAH53550,BAA03496,P30041,CBX32674 Hs.120 1-Cys|AOP2|KIAA0106|MGC46173|NSGPx|PRX|aiPLA2|p29 1-Cys PRX|1-Cys peroxiredoxin|24 kDa protein|acidic calcium-independent phospholipase A2|antioxidant protein 2|liver 2D page spot 40|non-selenium glutathione peroxidase|peroxiredoxin-6|red blood cells page spot 12 protein-coding 1352675 PREB prolactin regulatory element binding This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq] 61705,1580863 11252894,11031247,10194769,19086053,15761153,15489334,14702039,12735795,12477932,10920239,18029348,19426980 61705 10113 NM_013388,AC013403,AF227166,CH471053,AA629936,AF203687,AF226684,AK001976,AK023064,AK023405,AK292178,BC002765,BC008658,BC012890,BC016472,BC016906,BC036185,BC041032,CR599904,CR610473,CR610494,CR612201,CR620242,CR622322,CR625761,BG715668 NP_037520,AAX93170,AAF74572,EAX00626,EAX00627,EAX00628,EAX00629,EAX00630,AAF19192,AAG01692,BAB14385,BAF84867,AAH02765,AAH12890,AAH16472,AAH16906,Q05DB2,Q53SZ8,Q9HCU5,ABM83046,AAH41032 Hs.279784 MGC3467|SEC12 mammalian guanine nucleotide exchange factor mSec12|prolactin regulatory binding-element protein|prolactin regulatory element-binding protein protein-coding 1604018 PRELID1 PRELI domain containing 1 10931946,10810093,20877624,10784606,15489334,14640972,12477932,18029348 27166 NM_013237,AC146507,CH471195,AF087858,AF111112,AF112203,AF151864,AF153607,AF201925,AK312170,BC000007,BC007268,BC008307,BC008866,BC013733,BC013748,BC018904,BC078182,CR591452 NP_037369,EAW85021,EAW85022,EAW85023,AAP97168,AAF27195,AAF17191,AAD34101,AAD41089,AAF09255,BAG35104,AAH00007,AAH07268,AAH08307,AAH08866,AAH13733,AAH13748,AAH78182,Q9Y255,ABM81968,ABM85147 Hs.279529 CGI-106|MGC87972|PRELI|PX19 25 kDa protein of relevant evolutionary and lymphoid interest|OTTHUMP00000223599|OTTHUMP00000223602|PRELI domain-containing protein 1, mitochondrial|protein of relevant evolutionary and lymphoid interest|px19-like protein protein-coding 1606141 PRELID2 PRELI domain containing 2 20877624,14702039,12477932,20379614,17207965 153768 NM_138492,NM_205846,NM_182960,AC011355,AC011359,CH471062,AK095695,AK125215,BC012033,BC028175,BU167299,BU186346 NP_612501,NP_995318,NP_892005,EAW61857,EAW61858,BAC04611,AAH12033,Q8N945,ADQ31783 Hs.314261 FLJ38376|MGC21644 OTTHUMP00000223713|OTTHUMP00000223715|PRELI domain-containing protein 2 protein-coding 732559 PRELP proline/arginine-rich end leucine-rich repeat protein The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 7592739,17123807,17093390,15489334,14702039,12477932,12437997,12107410,11847210,9806887,8954791,8889548,19536175,20201926 5549 NM_201348,AL391817,CH471067,U41344,AK098245,BC032498,BE275567,BG569381,BI770477,BM705293,BQ181008,BQ182260,BQ706095,BQ777133,BQ778242,CA393630,CA776651,NM_002725,CR541787,CR542270,R83537,U29089,DB498999 NP_002716,NP_958505,CAI17033,EAW91481,AAC18782,AAH32498,CAG46586,CAG47066,AAC50230,P51888,Q6FG38,Q6FHG6,Q7Z4B2 Hs.632481 MGC45323|MST161|MSTP161|SLRR2A 55 kDa leucine-rich repeat protein of articular cartilage|prolargin|prolargin proteoglycan|proline arginine-rich end leucine-rich repeat protein|proline-arginine-rich end leucine-rich repeat protein protein-coding 732518 PREP prolyl endopeptidase The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq] 1580863 9695945,17454876,17401647,17324276,16700513,16092940,15838896,15380924,14702039,12603817,12477932,11792464,11137456,8893811,8889548,8089089,7959018,7588785,6389730,6358755,3891453,3525564,20362629,16341674,20370893,3480758,3292288,2858361,12173,16344560,19782684,19795399,20195514,20379614,20468064 5550 NM_002726,NG_011472,AL133406,AL139191,AL590871,CH471051,AB020018,AB028867,AK314195,AY660966,BC030636,BM828521,BU728077,D21102,X74496,DA790125 NP_002717,CAC36279,CAI42689,CAI21416,CAH72545,EAW48426,BAA86936,BAB19053,BAG36874,AAV70495,AAH30636,BAA04661,CAA52605,P48147,Q9BX53,Q9UM02,ABM84353,ABM87741 Hs.436564 MGC16060|PE|PEP dJ355L5.1 (prolyl endopeptidase)|post-proline cleaving enzyme|prolyl endopeptidase|prolyl oligopeptidase protein-coding 1606027 PREPL prolyl endopeptidase-like PREPL belongs to the prolyl oligopeptidase subfamily of serine peptidases (Parvari et al., 2005 [PubMed 15913950]).[supplied by OMIM] 16344560,16713569,19575798,19615732,18234729,16913837,16385448,16143824,15913950,12477932,12225859,11524703,9455477,7829101 9581 BG717492,CA951923,CX166315,DA246860,DA410514,NG_016429,NM_001171603,NM_001171606,NM_001171613,NM_001171617,NM_001042386,NM_006036,AC013717,AC016703,CH471053,AB007896,AK025649,AK131463,AW020480,BC013193,NM_001042385,CR594385,DQ023503,DQ023504,DQ023505,DQ023506,DQ023507,BC151236 NP_001165074,NP_001165077,NP_001165084,NP_001165088,NP_001035844,NP_001035845,NP_006027,AAX88956,EAX00275,EAX00276,EAX00277,BAA23709,BAD18608,AAH13193,AAI51237,AAY89634,AAY89635,AAY89636,AAY89637,AAY89638,Q4J6C6,AAI43062,AAI43063 Hs.727511 FLJ16627|KIAA0436 OTTHUMP00000202420|OTTHUMP00000202421|OTTHUMP00000202422|OTTHUMP00000202423|OTTHUMP00000202424|OTTHUMP00000202425|OTTHUMP00000202426|prolyl endopeptidase-like|putative prolyl oligopeptidase protein-coding 736364 PRES prestin (motor protein) 53408 1603014 PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq] 2314605 11955434,19305425,18697831,18602983,17903302,17698854,17565979,17227822,16301320,15545267,15489334,14702039,12477932,12168954,12123595,11780052,11549316,11230166,10718198,17353931,11756498,12376548,12787561,19911011,20018810,20036214,20074642,20379614,21172654,20650312 2314605 57580 AL035106,AL133342,AL445192,CH471077,AB037836,AJ320261,AK090860,AL136579,AL832913,BC009948,BC053616,NM_020820 NP_065871,CAI43186,CAI23274,CAI39886,EAW75684,EAW75685,EAW75686,BAA92653,CAC86401,CAB66514,CAH10614,AAH53616,Q8TCU6,AAI56403 Hs.726132 KIAA1415|P-REX1 phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein|ptdIns(3,4,5)-dependent Rac exchanger 1 protein-coding 1317307 PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 15304343,15897194,15761153,15304342,14702039,17565979,19729658,19861688,20379614 80243 NM_024870,NM_025170,AC011853,AC103783,AC104416,AJ437636,AK023049,AK024079,AK294299,AY508996,AY508997,AY570973,BK005160,BK005161 NP_079146,NP_079446,CAD26885,BAB14375,BAG57581,AAS82571,AAS82572,AAS59407,DAA05333,DAA05334,Q56UR8,Q70Z35,AAI46370,AAI48796 Hs.591867 6230420N16Rik|DEP.2|DEPDC2|P-REX2 6230420N16Rik|DEP domain containing 2|DEP domain-containing protein 2|PtdIns(3,4,5)-dependent Rac exchanger 2|phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein protein-coding 1350272 PRF1 perforin 1 (pore forming protein) The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1599929,1599935,1580863 20523897,20580434,20638125,20229057,19058215,18927437,18710388,18615597,18580471,18523274,18496551,18311812,18275349,18198357,18190960,18097852,17873118,17724145,17703412,17674359,17652853,17627755,17477373,17475905,17311987,17266056,17222571,17055354,16914553,16908262,16860143,16791263,16770700,16720836,16611257,16611250,16524880,16374518,16344560,16278825,15998831,15921391,15818305,15728124,15641052,15576364,15489334,15342365,15336785,15164054,15113754,15028722,14996347,14757862,14697980,14634500,14512315,12919092,12672182,12574394,19141320,12477932,12372421,12368910,12270380,12131187,12072512,12009596,11586066,11565555,11179007,11082062,10583959,10072525,9671507,9557729,8770355,8676885,3419519,3261391,2592021,2480391,2425429,2420467,2395434,16967044,20921521,20225066,10779745,1505959,19380804,19284501,19258923,19150377,20368273,11911826,16169070,16385451,19394279,19553259,19639728,19651491,20019066,20035050,20092789,20100010,20221423,20237496,20306696,20503287,20497254,21048031 1599929,1599935 5551 NM_001083116,NM_005041,NG_009615,AL355344,CH471083,M31951,AB209604,AK312754,BC047695,BC063043,BQ051559,BQ654088,DA816891,DA941244,L40557,M28393,X13224,FJ555237 NP_001076585,NP_005032,CAI41276,EAW54407,AAA60167,BAD92841,BAG35621,AAH47695,AAH63043,AAA63618,AAA60065,CAA31612,P14222,ACU25794 Hs.2200 FLH2|HPLH2|MGC65093|P1|PFN1|PFP OTTHUMP00000019759|cytolysin|lymphocyte pore forming protein|lymphocyte pore-forming protein|perforin-1 protein-coding 1603210 PRG-3 plasticity related gene 3 This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 14750979,12730698,12477932,9373149,8125298,17207965 54886 NM_207299,NM_017753,AL161631,AL357935,AL359893,CH471105,AK000307,AK225306,AK303718,AK303807,AK309115,AY304515,AY337718,BC022465,BC029380,BI601921,BI914341,CA772610 NP_997182,NP_060223,CAI16478,CAI16479,CAH72990,CAH72991,EAW58938,EAW58939,EAW58940,EAW58941,BAA91072,BAH14030,BAH14055,AAP72152,AAQ73539,AAH22465,Q8TBJ4,ADQ31714 Hs.382683 MGC26189|PRG-3|RP11-35N6.1 lipid phosphate phosphatase-related protein type 1|plasticity related gene 3|plasticity-related gene 3 protein protein-coding 737332 PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. [provided by RefSeq] 1580863 1565101,8547309,19398958,19039208,19014520,18852884,17223728,17136616,17082653,16940047,15647258,15489334,14988014,14500673,12534990,12477932,12421832,12393403,12370176,12202480,12176337,12149249,11546794,11445557,11319227,11278835,11222751,11170744,10913121,10698680,10491647,10357815,9748166,9736715,8507662,8137941,7727786,7685339,7539791,7531438,7526035,7524900,7508748,3422083,3410852,3199069,3171483,2584934,2501794,2323577,16169070,20849415,19626619,20237496 5553 AP000781,M34462,AK312195,BC005929,BQ445845,BX395670,CR450311,CR590212,CR590243,CR590778,CR591196,CR591375,CR591600,CR592750,CR593258,CR593804,CR593939,CR596367,CR597111,CR597334,CR598644,CR599398,CR599756,CR599931,CR600046,CR600307,CR600406,CR600722,CR601470,CR602064,CR602195,CR603205,CR603318,CR603683,CR604416,CR604651,CR604781,CR605665,CR605751,CR605780,CR605831,CR606081,CR606108,CR606261,CR606728,CR607616,CR607791,CR607959,CR608024,NM_002728,CR622244,CR622493,CR622766,CR623831,CR624403,CR624461,CR624696,CR624849,CR625293,CR625586,CR625670,CR625915,CR626156,CR626455,CR626835,DQ846874,M35670,M36805,X14088,X65787,Y00809,HC007226,CR609247,CR609762,CR610280,CR610568,CR610865,CR611197,CR612910,CR613833,CR614707,CR615315,CR615431,CR615951,CR616445,CR617394,CR617406,CR617968,CR618388,CR618883,CR619331,CR619837,CR619867,CR619994,CR620046,CR620305,CR620478,CR621197,CR621593 NP_002719,AAA35796,BAG35128,AAH05929,CAG29307,ABI63361,AAA35965,AAA36203,CAA32250,CAA46670,CAA68751,P13727,ABM84106,ABM87481,CBH19418 Hs.512633 BMPG|MBP|MBP1|MGC14537 bone marrow proteoglycan|bone-marrow proteoglycan|eosinophil granule major basic protein|eosinophil major basic protein|natural killer cell activator|proteoglycan 2 preproprotein|proteoglycan 2, bone marrow protein-coding 1320501 PRG3 proteoglycan 3 1580863 15489334,10318872,17136616,12975309,12477932,11170744,20379614,21048031 10394 NM_006093,AF304354,AP000781,CH471076,AF132209,AY358930,BC069126,BC101613,BC113411 NP_006084,AAG41952,EAW73738,AAD24471,AAQ89289,AAH69126,AAI01614,AAI13412,Q9Y2Y8,ADR82866 Hs.251386 MBP2|MBPH|MGC126662|MGC141971 eosinophil major basic protein homolog|prepro-MBPH|prepro-major basic protein homolog|proteoglycan 3 protein-coding 1319063 PRG4 proteoglycan 4 The protein encoded by this gene is a large proteoglycan specifically synthesized by chondrocytes located at the surface of articular cartilage, and also by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580712,1580863 20800603,16000300,15710563,15302935,14976050,14702039,12783322,12475643,11124536,10743795,9920774,9550484,8185311,10545950,17404241,17343281,16710414,16429407,16344560,16335952,20443780,17474147,18512776,18769058,19058183,19900364,20237496 1580712 10216 NM_005807,NM_001127708,NM_001127709,NM_001127710,NG_008248,AL133553,CH471067,AK057197,AK131434,AK308235,AY653037,AY653038,CR595257,DA977744,DC295855,DC404857,U70136,AK297718,AK301343,AK301487 NP_005798,NP_001121180,NP_001121181,NP_001121182,CAC36090,EAW91201,EAW91202,BAG51882,BAD18580,AAT74745,AAT74746,AAB09089,Q92954,BAG62891,BAH12654,BAH13495 Hs.647723 CACP|FLJ32635|HAPO|JCAP|MSF|SZP|bG174L6.2 OTTHUMP00000033580|articular superficial zone protein|bG174L6.2 (MSF: megakaryocyte stimulating factor )|lubricin|megakaryocyte stimulating factor|megakaryocyte-stimulating factor|proteoglycan 4|superficial zone proteoglycan protein-coding 1343411 PRH1 proline-rich protein HaeIII subfamily 1 1580863 18037651,12477932,3009472,2993301,803013,17207965,20379614 5554 NM_006250,AC006518,AC018630,AC134349,CH471094,M13057,BC031043,BC064553,BC128192,BC133676,BI772091,BM476484,K03203 NP_006241,EAW96214,EAW96215,EAW96216,EAW96217,AAA98807,AAI28193,AAI33677,AAA60184,ADQ32609 Hs.408153 MGC74956|Pa proline-rich protein HaeIII subfamily 1 protein-coding 1346350 PRH2 proline-rich protein HaeIII subfamily 2 1580863 3196309,3009472,438215,16203048,2993301,15693058,15489334,12477932,10858503,10627138,7390979,7380845,7228490,4053693,3710693,3687941 5555 BX647155,BX647156,BX648436,BX648656,BX648871,BX648901,CR749583,K03202,NM_005042,NM_001110213,AC006518,CH471094,M13058,BC095488,BC136499,BC141916,BX538206,BX538207,BX641094,BX647085 CAH18378,AAA60183,P02810,Q68D45,NP_005033,NP_001103683,EAW96219,EAW96220,EAW96221,AAA98808,AAH95488,AAI36500,AAI41917,CAE46044 Hs.631731 DKFZp686B01256|DKFZp686F14256|DKFZp686I11251|DKFZp686J06255|DKFZp686L01253|DKFZp686L16244|DKFZp686M04243|DKFZp686N24248|PRH1|Pr PIF-S|PRP-1/PRP-2|acidic salivary proline-rich protein, HaeIII type, 2|db-s|pa|parotid acidic protein|parotid double-band protein|parotid isoelectric focusing variant protein|parotid proline-rich protein 1/2|pr1/Pr2|protein C|salivary acidic proline-rich phosphoprotein 1/2 protein-coding 1626260 PRHOXNB parahox cluster neighbor 16462750 646625 NM_001105577,AL591024,CH471075 NP_001099047,EAX08423,A6NGE7 Hs.705356 URAD OHCU decarboxylase|parahox neighbor|putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase protein-coding 1604565 PRIC285 peroxisomal proliferator-activated receptor A interacting complex 285 The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16239304,15302935,14702039,12477932,12189208,12168954,11780052,11214970,10737800 85441 NM_001037335,NM_033405,AL121829,CH471077,AB051556,AB201715,AB232667,AF517673,AK023724,AK055611,AK074171,BC035130,BC036883,BC104974,BC112023,BC150283,BE062855,BE731343,BQ707207 NP_001032412,NP_208384,CAI95749,CAI95750,EAW75255,EAW75256,EAW75257,BAB21860,BAE46995,BAE46996,AAM74197,BAB70969,BAB84997,AAI04975,AAI12024,AAI50284,Q3C1U4,Q4VXQ0,Q9BYK8 Hs.517180 FLJ00244|KIAA1769|MGC132634|MGC138228|PDIP-1 ATP-dependent helicase PRIC285|OTTHUMP00000214531|PDIP1|PPAR gamma DBD-interacting protein 1|PPAR-alpha-interacting complex protein 285|PPAR-gamma DBD-interacting protein 1|PPAR-gamma DNA-binding domain-interacting protein 1|PPARgamma-DNA-binding domain-interacting protein1|PRIC complex|peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein|peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285 kD subunit protein-coding 1346789 PRICKLE1 prickle homolog 1 (Drosophila) 1580863,2293492 15009665,16417580,18922795,19379695,19834535,14645515,19252133,18976727,17709376,17411337,17030191,16764822,16344560,15489334,15146197,14702039,12941693,12525887,12477932,20445134 2293492 144165 AF543759,NG_012965,NM_153026,NM_001144882,NM_001144883,NM_001144881,AC079600,AC079601,CH471111,AF399844,BC114939,BC114940,BE858932,CN390789,DA321918,DA413584,AF543760,AK056189,AK056499,AK122877,AK122881,BC042722 NP_694571,NP_001138354,NP_001138355,NP_001138353,EAW57854,EAW57855,AAQ03035,AAI14940,AAI14941,Q687H3,Q687H4,Q96MT3,AAQ11824,AAQ11825,BAB71116,BAB71198,BAG53775,BAG53778 Hs.720221,Hs.524348 EPM1B|FLJ31627|FLJ31937|MGC138902|MGC138903|RILP REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein|REST/NRSF-interacting LIM domain protein 1|prickle-like 1|prickle-like protein 1 protein-coding 1315504 PRICKLE2 prickle homolog 2 (Drosophila) 1580863 11256614,17411337,16381901,15489336,15489334,14702039,12525887,12477932,11230166,11076863,19303062 166336 NM_198859,AC092040,AC136275,CH471055,AK055479,AK093899,AK127113,AK127839,AL833539,BC040867,BC119002,BX537915,BX647797,BX649125,CR936678 NP_942559,EAW65428,EAW65429,AAI19003,CAD97898,Q7Z3G6,CAL37665,CAL38278 Hs.148105 DKFZp686D143|DKFZp686H1748|DKFZp686M031 prickle-like 2|prickle-like protein 2 protein-coding 1350042 PRICKLE3 prickle homolog 3 (Drosophila) LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq] 1580863 17474147,17081983,15489334,15302935,12477932,9344658 4007 NM_006150,AF196779,CH471224,U93305,AJ011654,AK299407,AK300866,AK303200,AK303308,AK314788,BC002468,BC016856,BT007423,CR457211,NG_017135 NP_006141,EAW50686,EAW50687,EAW50688,AAB92357,CAA09726,BAH13026,BAH13360,BAH13918,BAH13938,BAG37320,AAH02468,AAH16856,AAP36091,O43900,CAG33492,Q6IAE4,ABM82400,ABM85588 Hs.632802 LMO6 LIM domain only protein 6|LMO-6|OTTHUMP00000025827|OTTHUMP00000025830|prickle-like protein 3|triple LIM domain protein 6 protein-coding 1347495 PRICKLE4 prickle homolog 4 (Drosophila) C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM] 16344560,16341674,15702247,15489334,14702039,14574404,12477932,7923143,20877624 29964 NM_013397,AL365205,CH471081,BC110458,BC110459,DA875485,DA917216,DA957684 NP_037529,CAI13185,CAM16153,CAO72057,EAX04061,EAX04062,EAX04063,EAX04064,AAI10460,Q2TBC4 Hs.715653 C6orf49|MGC120398|OBTP|OEBT|TOMM6 OTTHUMP00000174832|OTTHUMP00000190846|OTTHUMP00000199588|over-expressed breast tumor protein|overexpressed breast tumor protein|prickle-like protein 4|translocase of outer mitochondrial membrane 6 homolog protein-coding 1348091 PRIM1 primase, DNA, polypeptide 1 (49kDa) The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq] 1580863 8026492,6693436,9822671,11473323,15489334,12477932,11917009,10504261,10441007,9705292,9373149,9268648,8530050,8125298,12393188,16169070,19615732,20030400 5557 NM_000946,AC117378,U89689,AA761682,AK223391,AK314866,BC005266,BU167590,CD686660,CR612911,CR620245,CR621514,X74330 NP_000937,AAC51726,BAD97111,BAG37381,AAH05266,CAA52377,P49642,Q53F98,ABW03872,ABW03563 Hs.534339 MGC12308|p49 DNA primase 1|DNA primase 49 kDa subunit|DNA primase small subunit|DNA primase subunit 48|primase p49 subunit|primase polypeptide 1, 49kDa|primase, polypeptide 1, 49kda protein-coding 1353751 PRIM2 primase, DNA, polypeptide 2 (58kDa) The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the large, 58 kDa primase subunit. [provided by RefSeq] 1580863 8026492,6693436,9822671,11473323,17893144,15592455,15489334,14574404,12477932,12220650,10504261,9705292,9563011,9373149,8530050,8125298,20643958,19615732,20379614 5558 X74331,AL121958,AL121975,AL137184,AL162579,CH471081,AK223287,AK291915,BC017833,BC064931,NM_000947 CAA52378,P49643,ABZ92530,NP_000938,CAC03545,CAI20534,CAI42767,CAH73686,CAI40673,EAX04480,EAX04481,EAX04482,EAX04483,BAF84604,AAH17833,AAH64931 Hs.654580 MGC75142|PRIM2A|p58 DNA primase 58 kDa subunit|DNA primase large subunit|DNA primase subunit p58|OTTHUMP00000017818|dJ422B11.1.1|polypeptide 2A, p58|primase polypeptide 2A, 58kDa|primase, polypeptide 2A (58kD)|primase, polypeptide 2a, 58kda protein-coding 1315672 PRIMA1 proline rich membrane anchor 1 The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq] 1580863 16489065,16429581,11804574,8889548,14622217,19368807,20147288,20471375 145270 NM_178013,NG_009069,AL132642,AL157858,CH471061,AY225516,AY225517,BU726715 NP_821092,EAW81532,EAW81533,EAW81534,AAO74853,AAO74854,Q86XR5,AAI56511,AAI72508 Hs.432401 PRIMA OTTHUMP00000180666|acetylcholinesterase membrane anchor precursor PRiMA|proline-rich membrane anchor 1 protein-coding 2293806 PRINS psoriasis associated RNA induced by stress (non-protein coding) 20377629,15855153,14702039 100169750 NR_023388,AK022045,AC063961 Hs.725693 NCRNA00074 miscrna 732865 PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 69937,1580863,1600678,1600679,1300048,2316808 19728147,20562859,20217115,20660302,20462511,20167678,8557660,18403135,11546797,11165240,19491292,19211918,19197243,19138981,19050283,19049348,19020741,18996102,18950855,18801964,18614941,18359290,18347656,18303014,18276112,18195011,17088252,16806233,16466905,16405649,16344560,16054095,15489334,15485651,15024086,14985505,14985344,14976552,14709557,14702039,14557259,12890675,12869384,12853467,12847291,12791703,12788940,12477932,12391032,12368907,12194824,12091379,11997383,11903059,11500364,11171059,11052978,11042152,10862786,10760274,9857077,9845345,9224708,8910387,8626596,2900138,10698692,17028174,15261145,14651849,14970221,11913976,20421294,19913121,20602615,20622004,20628086,20682687,20821366,11971957,1322130,16054041,17584647,18674809,19442239,19502591,19556893,19723093,19723094,19723101,19723105,19887561,19923924,19948975,19966861,20080969,20103647,20170185,7907095,8094892,8163463,8663446,9091312,9710607,21048031,20368732 69937,1600678,1600679,2316808 5562 NM_206907,AC008810,CH471119,AB022017,AF100763,AK024252,AK307546,AK312947,BC012622,BC037303,BC048980,BQ049192,BQ716041,BX494823,CD512588,NM_006251,CR616720,DB236105,U22456,Y12856 NP_006242,NP_996790,EAW56000,EAW56001,BAA36547,AAD43027,BAG35788,AAH12622,AAH37303,AAH48980,AAA64850,CAA73361,Q13131,Q96E92 Hs.43322 AMPK|AMPKa1|MGC33776|MGC57364 5'-AMP-activated protein kinase catalytic subunit alpha-1|5'-AMP-activated protein kinase, catalytic alpha-1 chain|AMP -activate kinase alpha 1 subunit|AMP-activated protein kinase, catalytic, alpha-1|AMPK alpha 1|AMPK subunit alpha-1 protein-coding 730888 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq] 1580863,1625266,1600678,1600679,1302556,1300048 18674809,7959015,16054041,15060529,10698692,19470831,19434633,19170765,18996102,18974883,18801964,18614941,18195011,17950019,17179156,16984726,16801347,16710414,16670154,16598851,16567511,16518831,16505254,16483872,16344560,16275868,16054096,16054095,15640157,15572372,15489334,15371448,15297373,15231718,15058305,14985505,14985344,14742438,14729328,14709557,14651849,14613924,12941758,12847291,12788940,12663462,12519745,12511592,12477932,12456889,12444247,12427743,12413941,12391032,12091379,12067722,11797013,11389854,10760274,10642499,9224708,9148944,8889548,7988703,1536860,1365882,19913121,20602615,20628086,20682687,20821366,20217115,20647423,11052978,11171059,11500364,12740371,12853467,1322130,14532170,15024086,16624523,19440859,19502591,19528236,19574280,19720831,19723084,19836452,19948975,20124121,20167927,2900138,11257506,19728147,20558612,20562859 1625266,1600678,1600679,1302556 5563 AAB32732 NM_006252,AC099789,AL035705,CH471059,AI732856,AK314011,AL596521,AL710110,BC043195,BC069680,BC069740,BC069823,BM979925,CB985850,CF552084,DA710012,EF056019,U06454 NP_006243,CAC17574,EAX06650,BAG36722,AAH69680,AAH69740,AAH69823,ABK30810,AAA64745,AAB32732,P54646 Hs.437039 AMPK|AMPK2|PRKAA 5'-AMP-activated protein kinase catalytic subunit alpha-2|5'-AMP-activated protein kinase, catalytic alpha-2 chain|AMPK subunit alpha-2|AMPK-alpha-2 chain protein-coding 735402 PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq] 69937,1600678,1600679,1580863 20334581,18403135,9575201,19584313,19477172,19347029,19225536,19211918,19112161,19071085,19050047,19037093,18996102,18729810,18715874,18617528,18614968,18551130,18449856,18436530,18328803,18258605,18250161,18247380,18184930,20668229,18079111,18029348,18006825,18006475,17849173,17711846,17669398,17513605,17459875,17353931,17097050,17054914,17028174,17012231,16953221,16949049,16880506,16873412,16624523,16600998,16541075,16516166,16505254,16405649,15896711,15886229,15769985,15694368,15489334,15289653,15122253,15058305,15028725,14985505,14985344,14742438,14729328,14702039,14651849,14615481,12958172,12477932,10760274,10698692,9305909,9224708,8663446,8626596,8621499,8557660,16169070,18184747,20534540,19913121,20628086,20682687,20177150,20083895,20534808,20810907,20562859,16054041,18439900,18624398,19592618,19654324,19723334,19843515,19844168,19896469,19911004,19948975,19958286,19963029,20018878,20019839,20103737,20107043,20231899 69937,1600678,1600679 5564 NM_006253,AC002563,CH471054,U87276,AF022116,AJ224515,AK127820,AK301165,AK312495,BC001007,BC001056,BC001823,BC017671,BC018818,BU539177,BX537486,CR596319,U83994,Y12556 NP_006244,AAB71326,EAW98151,EAW98152,EAW98153,EAW98154,AAD00625,AAC98897,CAA12024,BAG62754,BAG35397,AAH01007,AAH01056,AAH01823,AAH17671,AAD09237,CAA73146,Q9Y478 Hs.726001 AMPK|HAMPKb|MGC17785 5'-AMP-activated protein kinase beta-1 subunit|5'-AMP-activated protein kinase subunit beta-1|AMP-activated protein kinase beta subunit|AMPK beta -1 chain|AMPK beta 1|AMPK subunit beta-1|AMPKb|protein kinase, AMP-activated, noncatalytic, beta-1 protein-coding 735943 PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. [provided by RefSeq] 69937,1600678,1600679,1580863 20562859,16712791,16341674,17353931,16054041,9575201,15060529,10698692,16710414,16505254,16344560,15489334,15058305,14702039,12490143,12477932,12433937,11752456,9224708,8889548,8626596,8621499,8557660,20628086,20682687,19913121,11257506,20534808,14651849,18996102,19836452,19948975 69937,1600678,1600679 5565 NM_005399,AF504543,AL356378,CH471223,AI026131,AI638769,AJ224538,AK023717,AK292820,AK294863,AK304069,AK310982,AL037763,AU118301,AV646012,AV660341,BC053610,BM563523,BM724633,BM769516,BU166852,BU619639,BX478507,CB111633,CR591350,AK316005,AK316183 NP_005390,AAM74153,CAH72644,EAW50945,CAA12030,BAF85509,BAG57967,BAG64976,AAH53610,O43741,ADR82700,BAH14376,BAH14554 Hs.50732 MGC61468 5'-AMP-activated protein kinase subunit beta-2|5'-AMP-activated protein kinase, beta-2 subunit|AMPK beta 2|AMPK beta-2 chain|AMPK subunit beta-2 protein-coding 1344608 PRKACA protein kinase, cAMP-dependent, catalytic, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of cAMP-dependent protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580713,1580714,1580675,1580730,2312475,1580863 20484458,12054501,11997508,11997388,11986331,11971957,11953308,11903055,11895474,11884598,11853558,11834733,11805122,11799117,11751901,11749387,11744745,11696326,11694504,11604405,11551945,11533025,11510412,11500364,11443111,11438671,11416140,11359875,11336675,11331285,11311121,11297520,11283605,11279195,11278469,11181841,11181701,11181181,11171059,11158305,11158204,11104762,11050185,11039908,11029056,9199504,9155020,9151826,9150141,9126608,9115213,9109552,9099667,9091312,9050991,9030586,9029147,8999860,8939981,8884279,8816779,8810272,8664319,8663994,8663227,8626720,8626492,8612821,8521865,8506364,8404858,8395513,8390988,8380342,8376365,8248197,8226875,8182057,8163498,8132598,8117614,8058338,8027074,8002936,7946090,7929424,7905001,7876254,7822264,7759492,7706316,7688126,7615546,7566346,7525582,7520867,6262777,4092695,3759968,2874140,2833520,2722853,2548572,2504723,2500966,2413024,2394752,2369897,2176601,2155236,2117608,2114109,2108025,1978848,1706595,1545828,1406653,1377674,1375933,1375229,1322130,1281154,221492,33381,12972513,9540970,15629779,18836454,18291109,10187789,11546661,11799244,9213219,12595241,15047863,15213298,15147202,15797222,9060639,11027313,10982398,10969067,10949026,10922374,10906071,10898738,10880354,10874031,10851246,10841548,10837486,10837251,10830164,10753751,10739259,10737616,10728420,10698939,10667577,10653665,10604473,10601328,10576742,10571231,10559944,10454575,10446213,10400690,10366608,10228048,10090741,10051666,9891036,9867809,9832145,9771888,9735171,9730685,9724719,9722526,9710607,9679146,9677319,9671211,9660950,9565682,9546672,9525956,9468536,9417067,9407077,9405392,9374536,9366517,9353289,9341190,9278385,9247274,8647104,10734119,10581150,19949837,20732331,20664056,20716686,14724137,14709557,14702039,14701748,14641008,14636580,14597563,14576165,14532276,14500710,12954600,12950172,12947093,12938160,12931191,12927815,12917345,12853467,12851456,12842892,12819195,12773393,12697024,12654918,12639913,12630910,12578970,12574812,12569367,12538592,12534294,12529267,12509440,12477932,12475942,12469130,12459461,12441002,12435421,12417592,12399457,12392720,12387894,12369791,12237306,12213813,12196520,12175859,12167624,12154078,12147701,12089143,2843813,15630084,17353931,11035810,12626323,12721358,19383776,19368997,19264843,19210988,19018281,18953413,18728186,18660489,18505929,18490653,18451148,18451138,18421013,18338250,18215420,18178622,18064650,17975022,17959673,17909264,17908236,17895245,17895239,17884635,17693412,17646929,17594903,17581860,17565987,17553808,17545677,17333334,17317104,17296605,17192257,17151273,17081983,17068197,17053039,17043752,17008315,16966355,16920702,16793902,16751804,16642035,16621795,16601239,16476742,16302972,16301320,16179339,16166624,15975931,15914039,15905176,15843433,15703181,15655353,15642694,15546918,15489334,15371306,15345747,15212956,15024086,15016832,14997482,14981079,20356841,20501673,20936779,15632203,10441130,10567342,11076968,11166179,12221128,12852856,15569306,16407073,16462731,1684878,17088250,17220478,19403523,19483721,19573263,19615732,19618297,19647741,19667072,19711044,19755416,19789307,19808666,19920112,19923321,19965870,20045463,20159975,2165385,7790358,9016641,20209159 1580713,1580714,1580675,1580730,2312475 5566 NM_002730,NM_207518,AC022098,CH471106,DQ667173,AF208004,AF224718,AF239744,AK093803,AK131561,AK290147,AK292284,BC039846,BC108259,BU543573,CR625910,M80335,X07767 NP_002721,NP_997401,EAW84397,EAW84398,EAW84399,EAW84400,ABG25918,AAG35720,AAF75622,AAF76426,BAF82836,BAF84973,AAH39846,AAI08260,AAA60094,CAA30597,P17612,Q15136 Hs.631630 MGC102831|MGC48865|PKACA PKA C-alpha|cAMP-dependent protein kinase catalytic subunit alpha|cAMP-dependent protein kinase catalytic subunit alpha, isoform 1|protein kinase A catalytic subunit protein-coding 1321558 PRKACB protein kinase, cAMP-dependent, catalytic, beta cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of cAMP-dependent protein kinase. Three alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580731,2312475 12626323,12721358,2342480,18499756,17594903,17549442,16949795,16889664,16710414,16381901,15723830,15489336,15489334,14744463,14702039,12842892,12798691,12682012,12477932,11589697,11172053,11076863,9730685,9671211,9636365,9278385,9151826,8662989,7946090,7688126,7684369,1978848,1551670,12972513,9540970,10830164,12420224,15632203,20033853,20564261,16407073,19383776,19483721,19573263,19711044,19965870,20086095,20093341,20379146,2165385 1580731,2312475 5567 NM_002731,NM_207578,NM_182948,AF538872,AL450063,AL359504,CH471097,DQ667174,AA761973,AB209189,AB451239,AB451364,AI445551,AK074904,AK091420,AK296482,AK304322,AK304375,AK314550,AK316115,AY927364,BX647515,CR608646,CR619935,CR936631,M34181,AY927366,AY927367,AY927368,BC016285,BC035058,BX369882,BX485407,BX537705,BX641026 NP_002722,NP_997461,NP_891993,AAN16454,CAI14540,CAI14541,CAI16844,CAI16845,CAI16846,CAI16847,CAI16848,CAI16849,CAI16850,CAI16851,CAI16852,CAI16853,CAI16854,CAI16855,EAW73247,EAW73248,EAW73249,ABG25919,BAD92426,BAG70053,BAG70178,BAG52356,BAG59122,BAG65172,BAG65213,BAG37136,BAH14486,AAX19487,CAE46017,CAI56774,AAA60170,P22694,CAL37404,CAL38111,CAL38195,CAL38374,ACE87794,ACE87846,ACE87848,ACE87853,AAX19489,AAX19490,AAX19491,AAH16285,AAH35058,CAD97818,ACT64365,ACT64367,ACT64382,ACT64538 Hs.487325 DKFZp781I2452|MGC41879|MGC9320|PKACB OTTHUMP00000011667|OTTHUMP00000011669|OTTHUMP00000011671|OTTHUMP00000011673|OTTHUMP00000011674|PKA C-beta|cAMP-dependent protein kinase catalytic beta subunit isoform 4ab|cAMP-dependent protein kinase catalytic subunit beta|protein kinase A catalytic subunit beta protein-coding 1345258 PRKACG protein kinase, cAMP-dependent, catalytic, gamma Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq] 2312475,1580863 9598317,12626323,12721358,15489334,15313841,15039079,12842892,12477932,12361948,9730685,9671211,9278385,9151826,7946090,7688126,2342480,1978848,1339328,12972513,9540970,10830164,15632203,16407073,19383776,19483721,19711044,2165385 2312475 5568 NM_002732,AJ001597,AL162730,CH471089,DQ667175,BC039888 NP_002723,CAA04863,CAH71828,EAW62472,ABG25920,AAH39888,P22612,ABM81690,ABM84853 Hs.158029 KAPG|PKACg PKA C-gamma|cAMP-dependent protein kinase catalytic subunit gamma|serine(threonine) protein kinase protein-coding 734389 PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1600678,1600679 9598317,8663446,18403135,10698692,2342480,19211918,19052260,18996102,18079111,15489334,15058305,14702039,12477932,11445078,9730685,9671211,9278385,9224708,9151826,8889548,8626596,8621499,8557660,7946090,7688126,1978848,17028174,16712791,20562859,19913121,20602615,20628086,20682687,20821366,14651849,16054041,18439900,19615732,19948975,20800603 1600678,1600679 5571 CR604823,CR611774,CR608916,CR612109,CR613967,CR616664,CR620523,NM_212461,NM_002733,AC011603,CH471111,AK097606,AK293332,AK303276,AK307994,AK310250,BC000358,BG772337,BG772412,BI757340,BM667691,BM972308,BT007345,CB124830,CR590162,CR596899 P54619,Q8N7V9,NP_997626,NP_002724,EAW58032,EAW58033,BAC05117,BAG56848,BAG64356,AAH00358,AAP36009 Hs.530862 AMPKG|MGC8666 5'-AMP-activated protein kinase subunit gamma-1|5'-AMP-activated protein kinase, gamma-1 subunit|AMPK gamma-1 chain|AMPK gamma1|AMPK subunit gamma-1 protein-coding 1346463 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four cystathionine beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 69937,70620,1580715,1580716,1580717,1580718,1580719,1600678,1600679,1580863 19913121,20602615,20622004,20628086,20682687,20821366,11827995,15060529,18029348,18996102,18403758,18195183,18158359,18033003,17990392,17483151,17431505,16806233,16487706,16344560,16275868,16115789,15766830,15673802,15611370,15489334,14702039,14519435,12853948,12716108,12690205,12546691,12477932,12397075,12015471,11748095,11445078,11407343,11112354,9847074,9730685,9671211,9278385,9224708,9151826,8621499,9208914,8557660,7946090,7688126,7657794,1978848,11257506,20562859,17207965,15877279,17255938,10698692,11371514,16054041,14651849,18439900,19533775,19808419,19862010,19948975,20005292,20022652,20031618,20031621,20379614,20383146 69937,70620,1580715,1580716,1580717,1580718,1580719,1600678,1600679 51422 NM_016203,NM_001040633,NM_024429,NG_007486,AACC02000108,AC006358,AC006966,AC074257,AC093583,CH471173,AB025580,AF087875,AI084919,AJ249976,AK001887,AK074675,AK092716,AK301123,AK307798,AK308116,AK314646,BC020540,BC068598,BM988346,BT007127,CR599607,DA084454,DA123009,DA187928,DA697901 NP_057287,NP_001035723,NP_077747,EAL24516,ADQ31995,AAS02032,AAF03528,EAW53983,EAW53984,BAA84695,AAK00413,CAB65116,BAA91962,BAC11129,BAH13414,AAH20540,AAH68598,AAP35791,Q8NCK6,Q9UGJ0 Hs.647072 AAKG|AAKG2|CMH6|H91620p|WPWS 5'-AMP-activated protein kinase subunit gamma-2|AMPK gamma2|AMPK subunit gamma-2|OTTHUMP00000211956 protein-coding 1318621 PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq] 1600678,1600679,1580863 20682687,20821366,10698692,17701023,17518971,16306365,15489334,14970697,14559719,14503854,12477932,12391032,10818001,8626596,16054041,17878938,18439900,18996102,19574280,19836452,19948975,14651849,20473479,15203218,20800603 1600678,1600679 53632 NM_017431,AC009974,CH471063,AA256383,AF214519,AJ249977,AK300078,AK309865,BC098102,BC098255,BC098277,BC098306,CD628195,W94830,AK300687,NG_016458 NP_059127,EAW70656,EAW70657,AAF73987,CAB65117,BAG61882,AAH98102,AAH98255,AAH98277,AAH98306,Q9UGI9,BAG62370 Hs.591634 AMPKG3 5'-AMP-activated protein kinase subunit gamma-3|5'-AMP-activated protein kinase, gamma-3 subunit|AMPK gamma-3 chain|AMPK gamma3|AMPK subunit gamma-3|OTTHUMP00000206393 protein-coding 735732 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Three alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 1581267,1581269,2312475,1580863 20358582,3426618,15655353,17353931,19060904,12626323,1832337,19429701,19293268,18799465,18760947,18647815,18451138,18445140,18413734,18407462,18401830,18241045,18223213,18059235,18056771,17906691,17904549,17884635,17081983,17079485,17047380,17036196,16963469,16728532,16728394,16728392,16582606,16407073,16396496,16394127,16189514,16020889,15982496,15846072,15604292,15489334,15371594,15345747,15331577,15299023,15231748,15096576,14702039,14500362,12896975,12829237,12812976,12804576,12759461,12752185,12665801,12634056,12571360,12477932,12475780,12471216,12424709,12213893,12203783,12119280,12119264,11839645,11834733,11115848,10974026,10973256,10889203,10864471,10764601,10228048,10026146,9852104,9730685,9671211,9405392,9326583,9278385,9065479,9050991,8977401,8698339,8619474,8609225,8407966,7946090,7688126,7678053,6333425,6287816,3479018,2902627,2310396,1978848,1889088,12972513,9540970,17168834,12606363,11414803,9110174,20190548,9151826,20562859,20936779,11256614,17369818,19372376,19465483,19494712,19573263,19710015,19730683,19738044,19833579,19915019,19965660,20026299,20048145,20379146,20507346,2165385 1581267,1581269,2312475 5573 NM_212471,NM_212472,NM_002734,NG_007093,AC079210,AF411298,CH471099,AA015682,AI074326,AK097580,AK124586,AK312307,AL050038,AL535889,AY007115,BC036285,BC093042,BM928493,BU167718,BU188258,CR596916,CR600338,CR609854,CR615537,CR623371,CR626462,CR749311,M18468,M33336,S54705,S54707,S54709,S54711,Y07642,A12295 NP_997636,NP_997637,NP_002725,AAL05860,EAW89060,EAW89061,EAW89062,EAW89063,EAW89064,EAW89065,BAG53489,BAG35232,AAH36285,AAH93042,CAH18166,AAB50922,AAB50921,CAA68925,P10644,Q68DQ4,Q96P62,CAA01027,ABM82701,ABM85885 Hs.280342 CAR|CNC|CNC1|DKFZp779L0468|MGC17251|PKR1|PPNAD1|PRKAR1|TSE1 cAMP-dependent protein kinase regulatory subunit RIalpha|cAMP-dependent protein kinase type I-alpha regulatory chain|cAMP-dependent protein kinase type I-alpha regulatory subunit|protein kinase A type 1a regulatory subunit|protein kinase, camp dependent regulatory, type i, alpha|tissue-specific extinguisher 1 protein-coding 1345941 PRKAR1AP protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene 8468054 5574 NG_003073,L20252,AC104836 pseudo 1351287 PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta Cyclic AMP-dependent protein kinase A (PKA) is an essential enzyme in the signaling pathway of the second messenger cAMP. Through phosphorylation of target proteins, PKA controls many biochemical events in the cell including regulation of metabolism, ion transport, and gene transcription. The PKA holoenzyme is composed of 2 regulatory and 2 catalytic subunits and dissociates from the regulatory subunits upon binding of cAMP.[supplied by OMIM] 2312475,619653,1580863 1708242,12626323,16777052,14966294,12634056,12477932,12373096,12067711,12052877,11943777,10228048,9730685,9671211,9278385,9151826,8407966,7946090,7925653,7688126,3479018,1978848,1358799,17168834,20588308,20029029,20936779,16344560,16407073,20379146,2165385 2312475,619653 5575 NM_002735,AC144411,AC147651,CH236965,CH236966,CH471144,AK098822,AK289464,AK297337,AK315951,AK315990,AL833563,BC013368,BC026734,BC036828,BC070478,M65066,AC144526,CT003793,DA162030,DA210679,DA501689,DA910871,DC314672,NM_001164758,NM_001164759,NM_001164760,NM_001164761,NM_001164762 NP_002726,EAW87163,EAW87164,EAW87165,EAW87166,BAF82153,BAG59793,BAH14322,BAH14361,AAH26734,AAH36828,AAH70478,AAC37564,P31321,Q6NS41,ACE87448,ACE86761,NP_001158230,NP_001158231,NP_001158232,NP_001158233,NP_001158234 Hs.520851 PRKAR1 OTTHUMP00000199952|cAMP-dependent protein kinase type I-beta regulatory subunit 2316038 GLUCO217_H protein-coding 732434 PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq] 1580714,2312475,1580863 17081989,17081983,16807684,16723498,16394127,14966294,12727975,12672969,12571360,12509440,12477932,12475942,12419802,12399526,12186851,12151104,12080047,11886862,11823486,11799244,11696326,11593431,11557526,11316952,11278869,11102458,10993882,10970852,10830164,10764601,10601332,10413680,10358086,10319321,10228048,10026146,9730685,9676433,9671211,9506976,9497389,9473338,9380760,9326583,9278385,9151826,9065479,8621616,8125992,8117614,7946090,7929081,7905481,7893490,7688126,6293815,2701845,2561973,2540040,2147685,1978848,1618839,9003463,12626323,10799517,19367581,17884635,17494870,1544918,12972513,9540970,17168834,9852104,12147701,11296225,9009265,11985580,10074940,9295304,11414803,20708017,10209101,16407073,19307216,20379146,2165385 1580714,2312475 5576 NM_004157,AC141002,AC144546,CH471055,X99455,AK293042,BC002763,BT007225,CF994284,X14968 NP_004148,EAW64925,EAW64926,EAW64927,EAW64928,CAA67817,BAF85731,AAH02763,AAP35889,CAA33094,P13861,Q9BUB1 Hs.631923 MGC3606|PKR2|PRKAR2 OTTHUMP00000210266|cAMP-dependent protein kinase regulatory subunit RII alpha|cAMP-dependent protein kinase type II-alpha regulatory subunit|protein kinase A, RII-alpha subunit|protein kinase, camp-dependent, regulatory, type 2, alpha protein-coding 735310 PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq] 2289157,2312475,1580863 2851102,12626323,18029348,18625701,18544528,18505904,17904549,16381901,15822905,15489336,15187164,14744463,14500661,12853948,12727985,12690205,12477932,12475942,11799244,11591815,11342137,11102458,11076863,10864471,10228048,9852104,9730685,9671211,9326583,9278385,9151826,8516283,8509414,7946090,7829531,7798223,7688126,7479855,3691190,3479018,1978848,1689049,1582408,1358799,1332964,17168834,12223483,10830164,10764601,11076968,11483602,11557526,12221128,12571245,12852856,15569306,16407073,16462731,20195266,20379146,2165385,7790358,21068099 2289157,2312475 5577 NM_002736,AC004492,AC006387,CH236947,CH471070,AK128639,AK291441,AL559918,BC014355,BC075800,BQ022817,CA405423,CF593944,CR604245,M31158 NP_002727,AAC08318,AAS07389,EAL24395,EAW83390,EAW83391,BAG54705,BAF84130,AAH75800,AAA60099,O60380,P31323,Q6DHZ2,Q75MP1,CAL37606,CAL37649,CAL38136,CAL38576 Hs.433068 PRKAR2|RII-BETA H_RG363E19.2|WUGSC:H_RG363E19.2|cAMP-dependent protein kinase type II-beta regulatory chain|cAMP-dependent protein kinase type II-beta regulatory subunit|protein kinase, camp dependent regulatory, type ii beta 1643388 BW321_H protein-coding 737062 PRKCA protein kinase C, alpha Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq] 1581271,1581272,1581273,1581274,2298729,2292446,2292462,2292478,2292455,2298669,2298671,2292458,2292460,2292463,2292480,2293301,1625124,1580863,1601471,2292474 20673527,20032081,20398285,17828490,20141446,15233804,9738012,15383279,9722557,9721757,9716136,9694886,9677319,9671211,9647734,9624226,9571186,9566962,9556568,9506976,9468546,9446795,9405395,9389649,9374536,9353340,9346285,9341215,9341188,9244383,9242710,9155020,9151826,9109675,9099669,9099667,9072970,9030777,9030586,9016777,8940188,8940095,8914829,8856079,8848293,8798526,8663994,8663267,8662663,8647866,8631738,8627654,8617805,8557118,8530412,8506364,8477740,8473314,8463287,8404858,8390988,8321321,8206971,8089108,8080473,8077302,8034575,7935319,7926007,7925482,7876254,7876252,7822264,7759492,7646439,7644499,7595479,7539802,7525583,7523419,7522330,7520867,7499337,3755548,3472757,3160694,2996780,2946940,2941417,2584239,2500966,2473066,2413024,2336401,2182321,2155236,2114109,2061327,2040602,1827443,1714454,1663499,1553557,1454855,1377674,1375933,1374067,1335366,1322130,1321150,7850771,11744714,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,15488737,10491200,10641798,11312657,9139671,9032396,9049329,8178481,7540194,17893151,1324914,11007882,12595241,12682370,15069082,10383403,20216103,20458747,20689063,20691662,20486122,19895572,20426528,20513439,16517978,16338977,16300929,16297876,16236797,16099831,16087181,16081872,16080189,16079140,16027158,16006559,15917995,15894802,15814724,15757899,15691837,15627650,15613483,15603822,15583006,15576373,15572354,15564481,15563462,15555220,15531915,15509588,15504744,15499829,15489334,15456937,15381704,15284224,15277524,15272003,15269224,18489726,18474624,18434368,18401527,18372343,18372238,18354190,18314869,18292781,18281137,18239055,18206668,18184679,18162471,18089814,18056764,17974965,17951978,17936705,17934063,17923691,17786270,17724468,17689692,17666590,17591920,17588800,17545611,17525530,17459358,17455194,17341442,17334233,17321722,17307332,17255356,17212360,17197445,17192257,17171646,17157935,17081983,17061041,16984735,16979586,16964312,16964243,16963226,16942862,16939222,16890208,16775601,16751194,16710050,16697522,16673150,16642043,16620963,16571380,12893243,10825394,9814702,17983652,10194441,10856305,19576566,19459855,19357285,19324870,19291828,19235902,19176518,19158275,19116345,19097143,19088254,19087983,19086053,19073232,19060919,19056838,18991684,18983267,18950621,18755856,18660489,18637128,18622039,18566014,18534651,18503554,15228384,15221008,15192100,15169840,15159477,15155525,15134451,15123666,15121854,15084746,15051732,15003508,14960580,14739142,14709334,14702039,14699138,14654844,14636580,14606067,14596793,14532112,14527960,12972622,12960759,12958364,12954613,12952980,12950453,12930825,12919677,12907651,12896972,12890670,12881490,12878187,12843260,12839565,12824193,12805550,12783114,12773393,12754513,12754211,12724315,12704190,12670483,12665801,12652652,12647293,12632071,12630910,12618484,12610653,12609995,12586732,12569090,12551925,12536241,12531893,12519779,12509413,12490289,12486117,12482669,12477932,12459461,12435334,12431982,12412804,12399526,12372816,12372800,12359212,12351446,12269829,12175859,12173071,12162751,12149272,12147342,12138200,12138090,12135703,12134071,12112001,12097375,12093536,12080070,12077120,12064599,12058067,12056906,12054501,12052829,12034821,12000751,11950841,11937501,11930178,11919157,11916978,11910029,11904166,11901153,11895774,11895474,11884598,11864971,11836255,11833470,11805101,11788586,11781100,11751262,11749387,11744641,11741957,11740573,11705379,11700305,11688977,11557526,12351631,11517287,11502742,11498053,11466413,11438671,11399752,11397799,11387207,11343707,11342557,11325968,11325528,11316952,11306676,11298324,11284700,11278470,11278415,11273731,11248124,11246878,11238007,11237868,11154208,11145703,11123317,11121119,11104776,11085981,11063746,11044099,11042191,11042115,11035810,11024037,11007883,10993892,10970850,10934041,10912793,10874031,10871288,10861222,10858434,10848585,10843712,10831594,10823959,10816571,10806197,10779366,10766777,10760275,10739259,10667577,10628374,10617144,10531036,10501226,10477766,10441128,10433554,10400690,10366608,10339425,10212259,9935181,9853757,9839716,9837921,20430034,20816195,18556656,20149875,20444294,20815813,20819076,11588141,14670076,15632189,16042408,16055064,17203073,17350576,18029348,19029835,19117992,19281832,19324950,19340015,19356729,19449091,19509063,19523156,19592459,19609943,19626679,19635931,19639961,19655190,19672862,19681907,19712589,19794964,19801684,19825989,19855090,19950169,20011080,20030858,20056645,20145126,20333651,20346360,20350647,20379614,20385812,20453000,17392515,21076409 1581271,1581272,1581273,1581274,2298729,2292446,2292462,2292478,2292455,2298669,2298671,2292458,2292460,2292463,2292480,2293301,1625124,1601471,2292474 5578 BM015483,NG_012206,AC005918,AC005988,AC006263,AC006947,AC009452,AC060796,AF395829,CH471099,CS098008,AA017296,AB209475,AB451258,AB451383,AF035594,AF035595,AF086287,AK055431,AK125425,AK130736,AL596674,AY633609,BC015855,BC053321,BC062759,BC071767,BC103691,BC107592,BC109273,BC109274,BC122530,NM_002737,BQ018414,BU150006,BX648954,CA417000,M22199,X52479,FB764948 NP_002728,AAK84184,EAW89014,CAJ00128,BAD92712,BAG70072,BAG70197,AAV33302,AAH53321,AAI09274,AAI09275,AAA60098,CAA36718,P17252,Q2TSD3,Q59FI5,Q7Z727,ACE87779,ACT64445,CAV30668 Hs.531704,Hs.708867 AAG6|MGC129900|MGC129901|PKC-alpha|PKCA|PRKACA PKC-A|aging-associated gene 6|protein kinase C alpha type protein-coding 731404 PRKCB protein kinase C, beta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1581275,1581276,1581274,2298729,1625511,1625515,1625513,1625519,1625520,1625524,1625124,1625525,1625527,1580863,1625516,729635,737729,1625512,1625514 20736472,20439192,7716516,7693453,7588787,7499337,3677994,3666134,3658678,2757032,2182321,2140056,1714454,1611098,1556124,1400396,1324914,1321150,7850771,11744714,15689238,11504923,11141237,2139676,1832084,7642615,3259291,8206685,1970444,8599832,10491200,10641798,10417813,10212259,12743109,15213298,10446219,19895572,20098747,9765207,3755548,18981301,10828076,9814702,10194441,10856305,19295663,19277684,19168795,19112601,19091746,18937679,18768137,18714023,18701509,18663085,18637128,18557705,18497307,18472156,18440851,18303026,18292183,18278479,18172602,18167130,18162471,18067888,17991733,17950644,17936705,17926183,17846295,17719638,17625596,17545677,17455194,17227757,17192257,17167344,17133356,17115053,17003377,16930534,16854530,16831865,16775601,16673150,16626305,16574993,16574992,16567829,16517978,16472601,16430878,16356855,16331690,16236825,16224561,16111671,16102725,16080189,16027742,16000408,15917249,15894802,15741241,15716278,15647851,15611095,15591231,15546881,15499829,15489334,15488737,15384959,15381704,15327405,15322124,15252133,15188402,15090600,15067001,15037605,14702039,14699138,14654845,14654844,14623273,14602581,14594954,14561740,14527960,12958364,12950453,12917261,12874455,12766174,12765965,12730099,12724308,12682249,12679936,15880462,12665801,12618484,12569090,12551925,12519779,12509514,12482669,12477932,12456365,12435880,12356761,12167592,12149258,12147342,12134071,12093536,12080070,12070292,12056906,12054501,12033257,12023512,11930178,11919157,11901153,11884598,11833470,11805327,11781100,11765038,11749387,11700305,11598012,11502742,11376011,11325528,11306676,11283022,11278415,11278382,11179083,11154208,11145703,11123317,11063746,11120743,11044099,11120522,11035810,11003709,10871288,10862698,10843712,10542228,10531036,10502411,10493829,10490850,10480917,10433554,9856494,9694886,9677319,9671211,9475183,9446795,9296367,9244383,9052983,9030777,9021343,8964400,8940188,8940095,8914829,8899875,8898866,8824244,8749392,8694767,8662663,8631738,8627654,8626698,8557118,8327493,8163551,8089108,8080473,8034726,8034666,7961692,7880442,7876254,19913121,20628086,20846475,20015121,20534587,15632189,16055064,16954220,17203073,18317465,19573263,19681907,19693767,19887445,19907441,19966859,20141354,20164467,20179100,20228790,20346360,20379614,20442744,20511681,20522523,19949911 1581275,1581276,1581274,2298729,1625511,1625515,1625513,1625519,1625520,1625524,1625124,1625525,1625527,1625516,729635,737729,1625512,1625514 5579 NM_002738,NM_212535,AC002299,AC010268,AC130448,AC130454,CH471145,D10022,M18254,M18255,S47311,X05971,X05972,X62532,AA613106,AI423262,AJ002788,AK057555,AK123381,AL833252,BC036472,BC045175,BI549165,DB456157,M13975,X06318,X07109,FJ907246,GN375923 NP_002729,NP_997700,AAB97933,AAB97934,EAW55796,EAW55797,EAW55798,EAW55799,BAA00912,AAA60096,AAA60097,AAD13852,CAA29395,CAA29396,CAA44393,AAH36472,AAA60095,CAA29634,CAA30130,P05771,ACE87802,ACT64387,ACS14045,CAZ00742 Hs.460355 MGC41878|PKC-beta|PKCB|PRKCB1|PRKCB2 PKC-B|protein kinase C beta 1|protein kinase C beta type|protein kinase C, beta 1 polypeptide protein-coding 69026 PRKCD protein kinase C, delta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 1581271,1581272,1642524,1642527,1642533,1642542,1642547,1642521,729667,1642523,1642532,1642534,1642535,1625605,1642550,2298730,1580863 20395553,12721299,20471435,12759229,12759139,12729789,12682370,12682249,12663471,12649167,12637327,12634498,12628935,12576423,12551925,12536241,12535519,12522006,12510148,12505880,12493764,12482669,12477932,12454008,12435421,12431976,12427758,12393602,12759450,12387894,12379484,12377781,12377207,12361954,12235228,12210761,12198130,12193405,12162751,12154081,12147630,12134071,12097319,12093536,12091471,12080077,12056906,12054501,12031982,12024011,12014986,11972023,11964256,11959144,11943682,11923305,11919157,11916978,11914583,11901191,11901153,11884618,11884598,11877440,11877428,11864971,11839738,11833470,11822877,11818507,11781095,11749387,11748588,11744693,11732925,11723252,11713246,11700305,11676480,11577086,11571229,11558579,11555640,11517230,11466390,11463380,11438522,11415434,11389095,11381116,11352632,11350938,11335711,11278470,11266508,11171046,11154208,11145703,11085981,11053353,11044099,11042191,11035810,11020388,10948194,10945993,10843712,10831594,10770950,10737616,10646504,10628374,10542257,10542228,10521505,10446219,10433554,10329716,10212259,10206975,10090741,9872331,9857183,9832145,9819435,9804763,9774685,9771888,9748166,9735171,9679146,19932628,20732874,20961851,14583092,16611985,15282327,8976194,19248786,19248119,19213940,19190347,19188511,19169273,19164129,19158279,19146951,19074768,16772297,16687414,16669786,16651613,16646678,16614259,16572399,16543902,16505477,16489124,16460683,16440330,16412390,16410245,16403461,16377624,16343435,16278684,16260419,16174865,16158048,16127146,16114000,16055706,16055435,16052516,16039614,16033904,16024783,15942654,15923181,15894802,15851033,15824731,15806174,15802551,15774464,15757899,15735693,15716280,15698833,15637072,15623535,15618968,15618223,15601585,15536414,15494525,15494216,15489375,15488737,15381704,15364919,15358156,15340077,15337529,15331751,15322115,15308560,15304079,15302935,15284289,15280372,15213298,15175028,15167677,15133032,15123666,15044084,15024053,14970215,14966116,14963018,14757756,14720513,14715667,14699138,14699137,14661062,14656938,14654844,14636897,14596936,14581488,14578358,14561742,14551213,14527959,12943720,12941954,12847277,12842900,12826681,12817007,12809676,12805378,12795334,12783114,12763138,19059439,19037087,19030108,19015273,19002183,18990707,18974277,18952226,18836180,18752579,18682391,18653803,18637130,18637128,18594782,18579725,18550547,18541226,18497307,18479751,18436431,18434324,18425341,18413747,18362147,18342628,18285462,18285345,18172602,18092819,18067888,18055557,18006831,17965192,17959229,17943181,17938203,17933493,17904606,17698617,17689924,17673262,17666590,17608772,17603046,17579121,17565738,17562707,17549442,17495969,17455223,17431791,17374730,17316401,17311929,17303575,17244494,17226776,17210122,17178875,17135298,17126298,17017122,16982614,16981720,16951338,16930534,16930532,16901898,16895913,16843828,16785226,16785027,9671211,9446795,9427282,9355737,9343414,9305920,9166747,8999969,8999860,8914829,8824244,8810272,8647875,8627654,8621594,8621384,8429024,8357834,8188219,8089108,7988719,7925449,7890750,7781068,7706316,7690989,7575560,7559455,7543024,2987962,2984676,2182321,1939065,1848190,1694174,1677563,7850771,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,10491200,10641798,11950841,12807916,10698949,10383403,19913121,20236250,20628086,18556656,20733000,19669929,20547768,20548952,10383400,15632189,16024613,16042408,16421932,17203073,17850925,18029348,19279193,19356729,19366211,19437514,19458088,19458393,19477272,19492056,19563780,19581935,19591825,19592494,19632318,19662097,19664934,19667069,19747914,19801500,19808702,19833733,19854263,19875824,19885862,19897486,19917613,19924022,19951712,19966859,20074641,20086103,20093486,20097574,20110406,20152816,20184865,20190138,20335173,20379614,20416077,9139733,9705322,15516986,21076409 1581271,1581272,1642524,1642527,1642533,1642542,1642547,1642521,729667,1642523,1642532,1642534,1642535,1625605,1642550,2298730 5580 NM_006254,NM_212539,AC097015,AK130150,AK294272,AK313216,AW293041,BC043350,BC127261,BE048101,CD369320,CR596063,D10495,DQ516383,L07860,L07861,Z22521,CH471055,FB775496 NP_006245,NP_997704,EAW65279,EAW65280,BAG57562,BAG36031,AAH43350,BAA01381,ABF68960,AAA03176,AAA03175,CAA80249,Q05655,CAV30705 Hs.155342 MAY1|MGC49908|PKCD|nPKC-delta protein kinase C delta VIII|protein kinase C delta type protein-coding 1353748 PRKCDBP protein kinase C, delta binding protein The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq] 633615,1580863 19679565,19679847,20423276,19262564,18059034,15940253,12477932,9054438,11691816,19913121,20628086 633615 112464 NM_145040,AC068733,AF408198,CH471064,AF339881,BC011585,BC038387,BQ434360,CR620659 NP_659477,AAK97528,EAW68733,AAK97572,AAH11585,Q969G5,ABM83226,ABM86425 Hs.434044 HSRBC|MGC20400|SRBC|cavin-3 protein kinase C delta-binding protein|sdr-related gene product that binds to c-kinase|serum deprivation response factor-related gene product that binds to C-kinase protein-coding 736442 PRKCE protein kinase C, epsilon Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq] 1581271,1580863 18947333,20139978,7522330,3259291,7935319,17038313,17018591,16930532,16793902,16785234,16698938,16637058,16461926,16266318,16079188,15967991,15949469,15894802,15827341,15815621,15809302,15784626,15718244,15698833,15691837,15627650,15572354,15559761,15509588,15499829,15489334,15467757,15381704,15368451,15364951,15284224,15233804,15190080,15147202,15003508,14739299,14720513,14709334,14656938,14643884,14600145,14532285,14523239,12972433,12970744,12941947,12893243,12857743,12794082,12783114,12782628,12665800,12663490,12640464,12536241,12505880,12505875,12482669,12477932,12385023,12372816,12372810,12205039,12198125,12185081,12134071,12121973,12093536,12055197,11997513,11994357,11968018,11964154,11956211,11934885,11919157,11897493,11884385,11877428,11839754,11834516,11833470,11809819,11788586,11740573,11739292,11709417,11696589,11553773,11350735,11154208,11140687,11085981,11062054,11044099,10945988,10862698,10848585,10843712,10801826,10679481,10536000,10407019,10212259,10092595,9822674,9671211,9446795,9360998,9312127,8940095,8914829,8824244,8627654,8621384,8567732,8346200,8224184,7877991,7523419,2182321,1374067,7850771,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,8599832,15488737,10491200,10641798,15078178,10417813,11950841,15213298,12223477,20732874,15632189,1382605,10438519,19432558,19248786,19244118,19168130,19030108,18988868,18663158,18556656,18462068,18458086,18436431,18408015,18398416,18319301,18317451,18296444,18292183,18237277,18184679,18172602,18171914,17991733,17851107,17785460,17678893,17668322,17628663,17616661,17569788,17561374,17434141,17382347,17215072,20677014,20471435,20566643,20936779,16810323,17203073,18844064,19324950,19429675,19435802,19542546,19573263,19577658,19633292,19635931,19655190,19662078,19815625,19862010,19874574,20072156,20171211,20198332,20200978,20350291,20379614 1581271 5581 NM_005400,AC017006,AC017078,AC079892,AC092600,AC115109,CH471053,U51244,AK128749,AK313842,AL832345,BC051195,BC054052,BC109033,BC109034,CA424727,X65293,EU332867 NP_005391,AAX93253,AAY14773,AAX93119,EAX00257,EAX00258,EAX00259,AAD08855,BAG36574,AAI09034,AAI09035,CAA46388,Q02156,Q53RT0,ABY87556 Hs.580351 MGC125656|MGC125657|PKCE|nPKC-epsilon protein kinase C epsilon type protein-coding 732858 PRKCG protein kinase C, gamma Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). [provided by RefSeq] 737791,1580863,1625124,737790 20395553,20471030,3755548,15808853,19165527,19060919,19041943,18716283,18577575,18503760,18499672,17708558,17659643,17562946,17508994,17343273,17233759,16828200,16713569,16394101,16193476,15964845,15894802,15851033,15489334,15467523,15381704,15364919,15148151,15014953,15003508,14699138,14694043,14676191,14676051,14654844,14561742,12958364,12954613,12950453,12644968,12569090,12551925,12519779,12482669,12477932,12471040,12417016,12164726,12147342,12134071,12093536,12091471,12054501,11919157,11884598,11833470,11749387,11502742,11325528,11306676,11278415,11154208,11123317,11063746,11044099,11042191,11035810,10939565,10871288,10862698,10843712,10547041,10542228,10531036,10441600,10212259,9814702,9786959,9694886,9671211,9576922,9545390,9446795,9345108,9244383,9030777,8940188,8940095,8914829,8662663,8631738,8627654,8432525,8375396,8080473,7606770,7499337,2460293,2307474,2182321,1714454,7850771,15689238,8206685,11504923,11141237,2139676,1832084,7642615,1970444,3259291,8599832,10491200,10641798,10433554,20398063,19895572,19913121,20627017,20628086,10194441,10856305,15459208,16055064,17203073,19234085,19561170,20188713,20346360 737791,1625124,737790 5582 NM_002739,NG_009114,AC008440,CH471135,AB209671,AF345987,AK296412,AK296434,AK302958,AK303741,AK312302,BC047876,BI757265,M13977,Z15114 NP_002730,EAW72161,BAD92908,AAK13533,BAH12345,BAH12352,BAH13856,BAH14036,BAG35228,AAH47876,AAA60102,CAA78820,P05129,Q59EZ0 Hs.631564 MGC57564|PKC-gamma|PKCC|PKCG|SCA14 protein kinase C gamma type protein-coding 735345 PRKCH protein kinase C, eta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. [provided by RefSeq] 1580863 11741879,11700305,11727958,11175348,11154208,11044099,10867018,10843712,10806212,10497222,9671211,9446795,8914829,8627654,8621660,8621384,7988719,2182321,1590767,1545821,1545811,7850771,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,10491200,10641798,12223477,15383279,1986216,19520989,19286657,19211565,19198108,19069168,18504423,18164711,17957454,17786031,17492941,17206144,17195206,17146445,16242915,15489897,15159477,14702039,14666709,12829844,12783114,12646210,12482669,12477932,12080077,11919157,11833470,11781100,20936779,20486122,20602195,20677014,15632189,17203073,17335965,19523467,19693767,19703523,19797084,20001341,20184865,20379614 5583 NM_006255,NG_011514,AF045569,AL138996,AL355916,CH471061,CQ834780,AB451313,AK093241,AK290183,AK296158,AK300864,BC001000,BC037268,CA447784,CB994021,CD522081,M55284,S74620,HI574284 Q9BVQ0,ABM81816,ABM84971,Q71UV9,NP_006246,AAD12779,EAW80800,EAW80801,EAW80802,CAH05605,BAG70127,BAF82872,BAG58897,BAG62513,AAH01000,AAH37268,AAA60100,AAB32724,P24723,CBX47631 Hs.333907 MGC26269|MGC5363|PKC-L|PKCL|PRKCL|nPKC-eta protein kinase C eta type|protein kinase c-eta protein-coding 732937 PRKCI protein kinase C, iota This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq] 2292460,2314932,2314944,1580863 20463008,20686607,20562859,20815904,8226978,12893243,11257119,14676191,11260256,19290490,19243387,19101699,19060919,18632643,18571841,18562307,18538170,18427549,18270268,18234642,18212741,18211289,17990328,17588663,17570678,17133348,16820593,16644736,16361262,16341674,16125198,16116079,15994303,15887250,15705582,15695176,15590654,15489334,15192100,15146197,15143057,15037605,15024028,14670960,14570876,12815264,12791393,12761193,12725730,12482669,12477932,12140376,11978974,11919157,11856176,11833470,11724794,11713277,11669302,11158308,11154208,11044099,10843712,10764742,10567402,10356400,9933579,9671211,9566925,9446795,9346882,8914829,8627654,8524286,7607695,2182321,7850771,15689238,11504923,11141237,2139676,1832084,7642615,3259291,8206685,1970444,8599832,10491200,10641798,10383403,12459187,12832475,16189514,12813044,8797824,10022904,10848576,10934474,11244088,14684752,15302858,16997282,17350623,17626746,19327373,19549684,19615732,19617897,19774416,19805306,20445233,2457390 2292460,2314932,2314944 5584 NM_002740,AC023891,AC073288,CH471052,AB451443,AI521422,AK315342,BC022016,BC042405,BM767350,BQ014217,CN412350,L18964,L33881 NP_002731,EAW78513,EAW78514,EAW78515,BAG70257,BAG37741,AAH22016,AAA60171,AAB17011,P41743 Hs.478199 DXS1179E|MGC26534|PKCI|nPKC-iota PRKC-lambda/iota|aPKC-lambda/iota|atypical protein kinase C-lambda/iota|protein kinase C iota type|protein kinase c, lambda protein-coding 1350580 PRKCQ protein kinase C, theta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq] 1625613,1625625,1625124,1625603,1625604,1625605,1625610,1580863 19913121,20472553,20628086,20677014,12154370,20453842,12077322,11956228,11919157,11833470,11772397,11410591,11358993,11337467,11154208,11120819,11114301,11044099,10980603,10843712,10746729,10725744,10716728,10652356,10512725,10433554,9856983,9671211,9606192,9516463,9446795,9353339,10383400,10636891,11788586,17588663,7686153,8444877,19240061,19164598,19073967,19050260,18978792,18802089,18802085,18796635,18794853,18250452,18184679,18086904,18037997,17904606,17846228,17548359,17339328,17192257,16964635,16849481,16309697,16264271,16252004,16210616,16009340,15894802,15802604,15790681,15749850,15592506,15522211,15489334,15364919,15358536,15289315,15217944,15192100,15164054,15150272,15064353,14985363,14985240,14699138,14673152,14525764,12890684,12730099,12618484,12504004,12482669,12477932,12421956,12097375,9268366,9260867,9252332,8985252,8914829,8816492,8627654,7790001,2182321,7850771,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,10491200,10641798,12734410,11222731,9617893,8663223,20716167,20973039,20486122,20664063,20511557,18521081,16385451,19430480,19644859,19674979,19851296,20049410,20198315,20203524,20219786,20233754,20339032,20379614,20439292,20444755,20498205 1625613,1625625,1625124,1625603,1625604,1625605,1625610 5588 AL137145,AL158043,CH471072,AI570478,AK293935,AK308099,AK312411,AU099414,AY702977,BC101465,BC113359,BC143222,BF592799,BX647657,L01087,L07032,NM_006257 NP_006248,CAC10200,CAI15756,CAC12904,CAI16127,EAW86392,EAW86393,EAW86394,BAG57313,AAU29340,AAI01466,AAI13360,AAA75571,AAA60101,Q04759,Q5JUN8,ADR83239 Hs.498570 MGC126514|MGC141919|PRKCT|nPKC-theta protein kinase C theta type protein-coding 1320068 PRKCSH protein kinase C substrate 80K-H This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1599188,1580863 2793184,9043864,19308730,19061073,18990696,18419150,18224332,20095989,16835903,15707389,15489334,15188177,15133510,15057895,12841677,12665801,12577059,12529853,12477932,11047756,10929008,10764838,10764837,10684806,9846883,9373149,9148925,8910335,8895530,8125298,2241894,1076483,16169070,18303019,19801576,20408955,20490454 1599188 5589 CF618983,CR593077,CR596313,CR599733,CR600903,CR607290,CR609314,CR622755,J03075,Z36798,NM_002743,NG_009300,AC008481,AC024575,CH471106,U50326,AF144075,AK130663,AK225279,AK225390,AK290433,AK296187,BC013586,BC015154,BC128412,BF984334,BG323695,BI254784,BT009858,NM_001001329 AAA52493,P14314,NP_001001329,NP_002734,EAW84215,EAW84216,EAW84217,EAW84218,EAW84219,AAA98668,AAF66686,BAF83122,BAG58917,AAH13586,AAH15154,AAI28413,AAP88860 Hs.610830 AGE-R2|G19P1|PCLD|PLD1 AGE-binding receptor 2|PKCSH|glucosidase 2 subunit beta|glucosidase II subunit beta|glucosidase II, beta subunit|hepatocystin|protein kinase C substrate 60.1 kDa protein heavy chain|protein kinase C substrate, 80 Kda protein protein-coding 736361 PRKCZ protein kinase C, zeta Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1581275,1642650,1642528,2298729,1580863 19913121,20236250,20628086,15069075,10770953,7925449,19380829,19339512,19304661,19201988,19187446,19164129,19086264,19061073,19033536,18989463,18760839,18668687,20538799,20679531,16712791,20463008,20941506,20417648,20501645,9689078,9671211,9566925,9512493,9455484,9446795,9388266,9305920,8940095,8914829,8856079,8797824,8627654,8621384,8375396,8224878,8206971,8089108,7522330,2182321,7850771,11504923,11141237,15689238,2139676,1832084,7642615,8206685,1970444,3259291,8599832,10491200,10641798,16189514,12459187,10212259,12813044,15665819,15761148,12223477,15707389,15499829,15489334,15381704,15362041,15358551,15313379,15285019,15254234,15210811,15172966,15159477,15081397,15003508,14744756,14702039,14699138,14697253,14654844,14576165,14570876,14500673,12970910,12920244,12905768,12905622,15526032,12900386,12893243,12882907,12881425,12791393,12783114,12774026,12748064,12671055,12551925,12493764,12482669,12477932,12435813,12244101,12242277,12234671,12223351,12162751,12139760,12134071,12105221,12093536,12056906,12021260,11960776,11937546,11919157,11833470,11788586,11781095,11765038,11755531,11740573,11739185,11684013,11585925,11535599,11481324,11462174,11381116,11260256,12887891,11222751,11158308,11154208,11145703,11063744,11053446,11044099,11016947,10843712,10831594,10779355,10764742,10764587,10747026,10733591,10636891,10620507,10617144,10527887,10477520,10383403,10357815,10356400,10339425,10195894,10085094,10022904,9971736,9768361,9756852,9748166,18615853,18571841,18385757,18354190,18343365,18321849,18319301,18313384,18296444,18166155,18094075,18067888,18050214,17850789,17786270,17682059,17544492,17541951,17525161,17446166,17398070,17389234,17369850,17346701,17313651,17081983,17024099,16943418,16940160,16931574,16798739,16792529,16710414,16644736,16611744,16407220,16344560,16287866,16011831,15956717,15935276,15894802,15887250,15870274,15808853,15721486,15630457,15604116,15544481,20407013,20936779,11723139,14560023,17203073,17335965,17588663,17850925,18190796,19460843,19502590,19751727,19809379,19812540,20236512,20416077,21107309 1581275,1642650,1642528,2298729 5590 NM_002744,NM_001033581,NM_001033582,AL162271,AL391845,AL590822,AL645703,CH471183,AB007974,AK097627,AK131526,AK290995,AK294649,AK294782,AK302160,AK310372,AL542576,AU134793,BC008058,BC014270,BT007082,CB152283,CR594257,CR609425,L14283,Z15108 NP_002735,NP_001028753,NP_001028754,CAI15438,CAI21535,EAW56130,EAW56131,BAG53497,BAF83684,BAH11833,BAH11883,BAH13641,AAH08058,AAH14270,AAP35745,AAA36488,CAA78813,Q05513,ABM83855,ABM84848,ABM87177 Hs.496255 PKC-ZETA|PKC2 OTTHUMP00000196802|OTTHUMP00000220762|nPKC-zeta|protein kinase C zeta type protein-coding 1351212 PRKD1 protein kinase D1 Members of the protein kinase C (PKC) family function in many extracellular receptor-mediated signal transduction pathways. See PRKCA (MIM 176960) for further background information. The PRKCM gene encodes a cytosolic serine-threonine kinase that binds to the trans-Golgi network and regulates the fission of transport carriers specifically destined to the cell surface.[supplied by OMIM] 12893243,8119958,10856238,19329994,19258390,19243594,19211839,19176759,19173301,19029298,19011111,18829454,18703509,18694729,18641342,18602367,18440775,18332134,18283041,18259765,18239146,17979146,17804414,17703233,17635916,17591919,17570131,17492941,17442957,17389598,16166634,16006559,15755722,15738054,15728188,15623513,15367659,15146197,15123666,15093611,15024053,15003508,14743217,14607845,14550308,12859948,12778467,12646240,12637538,12628923,12482669,12393506,11978539,11948398,11919157,11903052,11884618,11833470,11741879,11641411,11549247,11154208,11114197,11081517,11044099,10998417,10965134,10867018,10843712,10831594,10561498,10523301,10412981,10092600,10092595,9671211,9446795,8914829,8885868,8627654,2987962,2984676,2182321,5668,16005295,12223477,15383279,18029348,19029091,20444975,20940406,20677014,20477989,20363754,20935630,15695390,17024177,19135240,19416469,19458088,19548982,19567672,19581308,19655095,19767773,19794144,20082306,20160036,20621130 5587 NM_002742,AL135858,AL355053,AL356756,AL445884,CH471078,DQ485452,AK314170,BX645735,CN412379,X75756 NP_002733,EAW65970,EAW65971,ABE96833,BAG36853,CAA53384,Q15139,Q1KKQ2,AAI60015 Hs.508999 PKC-MU|PKCM|PKD|PRKCM nPKC-D1|nPKC-mu|protein kinase C mu type|protein kinase C, mu|protein kinase D|serine/threonine-protein kinase D1 protein-coding 1342931 PRKD2 protein kinase D2 The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18262756,12058027,17962809,17951978,17570131,17192257,17121608,17081983,17077180,16928771,16899224,16344560,16083285,15975900,15623513,15604256,14743217,14702039,12646243,12477932,11042152,20732914,11062248,19192391,19001381,18758461,19430480,19520973,19581308,19615732,20332261,19913121,20553269,20628086,20731705,20855867 25865 NM_016457,NM_001079880,NM_001079881,NM_001079882,AC008635,AC093503,CH471126,CQ783562,AF151021,AF309082,AK074673,AK075266,AK092896,AK095884,AK300339,AK303629,AL050147,BC015472,BC025307,CR593566,CR598235,CR603991,DA475821 NP_057541,NP_001073349,NP_001073350,NP_001073351,EAW57441,CAF86729,AAF36107,AAK01149,BAC11127,BAC11508,BAG53158,BAG62084,BAG64637,CAB43292,AAH15472,Q8N2H2,Q8NCK8,Q9BZL6,AAI56074,AAI56947 Hs.466987 HSPC187|PKD2 nPKC-D2|serine/threonine-protein kinase D2 protein-coding 1353868 PRKD3 protein kinase D3 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. This kinase can be activated rapidly by the agonists of G protein-coupled receptors. It resides in both cytoplasm and nucleus, and its nuclear accumulation is found to be dramatically enhanced in response to its activation. This kinase can also be activated after B-cell antigen receptor (BCR) engagement, which requires intact phopholipase C gamma and the involvement of other PKC family members. [provided by RefSeq] 17196367,10231560,19264651,17889508,17081983,16964243,16380377,15824133,15496505,14743217,14702039,12676944,12506120,12482669,12477932,12080077,12054501,11919157,11884598,11833470,11749387,11154208,11044099,11035810,10843712,9671211,9446795,8914829,8627654,8274451,2182321,16147992,19615732,18029348,20098747,20621130 23683 NM_005813,AC007390,CH471053,AA631772,AB015982,AK027585,AK122883,AW515068,BC012820,BC030706,BI262400,BU173084,Z25429,BQ051077 NP_005804,AAY14817,EAX00398,EAX00399,BAA36514,BAG51354,AAH30706,CAA80916,O94806,Q15451 Hs.660757,Hs.716034 EPK2|PKC-NU|PKD3|PRKCN|nPKC-NU OTTHUMP00000126953|protein kinase C nu type|protein kinase C, nu|protein kinase EPK2|protein-serine/threonine kinase|serine/threonine-protein kinase D3 protein-coding 1319072 PRKDC protein kinase, DNA-activated, catalytic polypeptide The PRKDC gene encodes the catalytic subunit of a nuclear DNA-dependent serine/threonine protein kinase (DNA-PK). The second component is the autoimmune antigen Ku (MIM 152690), which is encoded by the G22P1 gene on chromosome 22q. On its own, the catalytic subunit of DNA-PK is inactive and relies on the G22P1 component to direct it to the DNA and trigger its kinase activity; PRKDC must be bound to DNA to express its catalytic properties.[supplied by OMIM] 1580863,1599202 20590474,20610542,18451257,18449888,18426604,18422577,18415044,18270197,18172300,18158334,17963495,17932067,17786349,17786318,17764108,17593081,17526517,17441731,17389609,17287830,17242407,17241822,17196815,17189255,17081983,16874298,16857680,16785234,16759233,16713581,16600297,16566590,16565220,16540648,16520097,16510122,16397295,16314509,16046194,16001975,16000400,16000298,15936993,15811628,15758953,15723802,15698568,15677476,15668400,15668230,15640154,15635413,15592499,15574326,15520013,15493013,15456891,15389585,15381073,15377652,15353130,15324660,15313891,15302935,15286704,15279776,15262962,15258142,15163725,15123719,15071507,14966265,14766968,14744996,14734805,14704337,14654699,14627815,14612514,14556663,12897153,12756247,12750264,12672807,12547193,12519782,12509254,12477932,12379113,12231622,12186630,12171929,12065055,11955432,11904432,11889123,11883897,11867762,11801738,11790298,11749722,11739746,11731442,11709713,15194694,9442054,7671312,12023295,12065431,19451221,19351595,19237606,19203584,19198648,19181665,19144640,19092295,19075392,19074885,19071136,19021771,18957425,18952587,18950845,18922151,18789131,18728186,18710952,18644989,18644470,18550272,18508926,18505846,11551930,11418067,11406603,11279128,11160753,11158303,11101529,11070027,11030616,10951572,10823961,10747897,10673501,10567342,10547363,10470151,10467406,10464290,10446239,10441130,10213687,10207052,10064605,10026262,9774685,9766667,9765199,9748231,9722660,9679063,9632806,9586635,9525578,9435225,9430729,9398855,9372844,9363941,9362500,9325337,9312071,9295339,9284934,9139719,9038175,9035691,8917110,8804412,8464713,8422676,8407951,8364539,7638222,7594449,2507541,2247066,1597196,16075307,15875659,16751065,12393188,10608806,9914162,16221682,9488450,11000264,15678105,15664519,20111054,17213819,20427287,20562859,20936779,20972425,20219974,20966071,19661379,19666485,19833092,20813000,16449650,16603769,16794079,19394292,20801936,20878914,21175350,18799040,19697154,15190070,16541024,17148452,17308091,17626748,17991316,18246802,19270065,19303849,19341095,19444312,19467273,19573080,19589246,19672258,19773279,19781633,19815090,19851285,20003485,20023628,20065038,20085707,20157594,20204287,20205745,20379614,20496165,20522537 1599202 5591 NM_001081640,NM_006904,AB052953,AC021236,AC103686,AY030284,AY316117,CH471068,L27425,U63630,U90415,AB208860,AK296833,BC017494,BC024963,BC037968,CR607506,U34994,U35835,U47077,NG_023435 NP_001075109,NP_008835,BAB79635,AAK40350,AAP69525,EAW86680,EAW86681,EAW86682,EAW86683,AAA79244,AAC52019,AAB51722,BAD92097,BAG59403,AAC50210,AAA79184,AAB39925,P78527 Hs.491682 DNA-PKcs|DNAPK|DNPK1|HYRC|HYRC1|XRCC7|p350 DNA-PK catalytic subunit|DNA-dependent protein kinase catalytic subunit|hyper-radiosensitivity of murine scid mutation, complementing 1|p460 protein-coding 1322442 PRKG1 protein kinase, cGMP-dependent, type I 1580863 19913121,20600009,20628086,20732627,10851246,2792381,18029348,19023132,18983522,18945831,18782776,18757735,18617565,18593937,18519826,18496125,18194177,17975119,17904578,17601797,16632465,16407222,16344560,16331690,16249377,16166082,16131665,15917860,15711749,15556942,15489334,15280395,15164054,15107017,15051728,14983059,14702039,14679200,14608379,14532276,12933804,12855709,12609995,12574812,12571245,12480535,12477932,12237340,12175859,12119292,12082086,11884369,11309393,11278298,11175347,10922374,10724174,10681529,10671526,10601315,10567269,10449420,10051666,9829964,9687510,9192852,8688081,8663267,8613202,8380342,8182057,8132598,7589584,2168396,1544322,1377674,9308888,19961855,20826808,15632203,16990611,20567233,20371672,16385451,19023099,19424179,19487814,19851296,19996273,20006992,20043968,20068229,20182759,20198315,20348951,20379614 5592 NM_001098512,NM_006258,AC009986,AC022025,AC022537,AC026228,AC027118,AC068062,AC069079,AC073584,AL157399,AL391378,AL596105,AL607031,AL731537,AL928686,CH471083,Z92867,Z92868,AK093436,AK300110,AK313416,BC062688,BC127090,D45864,DA150150,DC310312,DC379897,EF560730,Y07512 NP_001091982,NP_006249,CAI41304,CAI41305,CAI39625,CAI39626,CAI17114,CAI17115,CAI40742,CAI40743,CAI40744,EAW54140,EAW54141,CAB07436,CAB07437,BAG52715,BAG61905,AAH62688,AAI27091,BAA08297,ABQ59040,CAA68810,Q13976,Q5JP05,Q5SQU3,Q6P5T7,ACT64369,ACT64370 Hs.654556 CGKI|DKFZp686K042|FLJ36117|MGC71944|PGK|PKG|PRKG1B|PRKGR1B|cGKI-BETA|cGKI-alpha OTTHUMP00000019618|cGK 1|cGK1|cGMP-dependent protein kinase 1|cGMP-dependent protein kinase I|protein kinase, cGMP-dependent, regulatory, type I, beta protein-coding 733228 PRKG2 protein kinase, cGMP-dependent, type II 1580863 8607838,18678579,18606955,18391951,18262053,15555551,12764134,12571245,12477932,12054676,11278298,11076863,10531334,9535793,7543493,7498513,7493990,6547441,20881960,16990611,19343178,19359370,19543319,20379614 5593 NM_006259,AC098819,AC139722,CH471057,AK296979,AK297673,AK316140,D70899,X94612 NP_006250,EAX05867,BAG59521,BAG60035,BAH14511,BAA18934,CAA64318,Q13237,AAI11598 Hs.570833 PRKGR2|cGKII OTTHUMP00000160807|cGK 2|cGK2|cGMP-dependent protein kinase 2|cGMP-dependent protein kinase II|protein kinase, cgmp- dependent, type ii protein-coding 1315476 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 11238927,19441135,19580324,19604093,20379614,20468071,9687506,17452327,18936160,18420150,18243799,17353931,17125937,17081983,16982605,16861340,16424907,16169070,15815621,15489334,15299031,14702039,12874289,12477932,12368348,11985496,11526399,11256614,11230166,10336432,9373149,9010216,8125298,19913121,20588308,20628086,20628624 8575 CR624235,CR624706,AL833867,NM_001139517,NM_001139518,NG_009053,AC009948,CH471058,AF072860,AF083033,AK093360,AK223107,NM_003690,AK290601,AK296019,AL136615,AY251164,BC009470,BG827125,BT007243,CR533525,CR590414,CR593120,CR595052,CR599358,CR603872,CR608584,CR612435,CR620463 O75569,CAD38725,ACE87235,ACE86553,NP_003681,NP_001132989,NP_001132990,AAX88882,EAX11034,EAX11035,EAX11036,EAX11037,AAC25672,AAD33099,BAF83290,BAG58789,CAB66550,AAP20061,AAH09470,AAP35907,CAG38556,BAD96827 Hs.570274 DYT16|HSD14|PACT|RAX OTTHUMP00000205652|PKR-associated protein X|PKR-associating protein X|interferon-inducible double stranded RNA-dependent protein kinase activator A|protein activator of the interferon-induced protein kinase|protein kinase, interferon-inducible double stranded RNA-dependent activator protein-coding 1625087 PRKRAP1 protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1 21048031 731716 BX649210,CR933540,NG_023048 pseudo 1316893 PRKRIP1 PRKR interacting protein 1 (IL11 inducible) 737633 16344560,16189514,14702039,12679338,12477932,15146077 737633 79706 AC073517,AC093668,CH471197,AF178686,AK023964,AK097289,AK098276,AK124753,AK294664,AK298774,AL833837,BC014298,NM_024653,BC063572,CA866825,CR598349,CR599339,CR602187,DA227367 NP_078929,EAW50241,EAW50242,EAW50243,AAQ13673,BAB14742,BAG57833,BAG60916,CAD38697,AAH14298,Q7LCM6,Q9H875,ABM84094,ABM87465 Hs.406395,Hs.725353,Hs.708829 C114|FLJ13902|FLJ40957|KRBOX3 KRAB box domain containing 3|OTTHUMP00000212403|PRKR-interacting protein 1|likely ortholog of mouse C114 dsRNA-binding protein protein-coding 1320154 PRKRIR protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 1580863 18029348,9447982,15489334,14702039,14695705,12477932,12384512,10542257,9819435,8576172,1677563,11555640,20588308,20628624 5612 NM_004705,AP002360,CH471076,AF007393,AF081567,AK001522,AK291843,AK299594,AL049970,BC021992,BC110304,BC117138,BC117140,BX641144 NP_004696,EAW74991,EAW74992,EAW74993,AAC39564,AAG01570,BAF84532,BAG61526,CAB43226,AAH21992,AAI10305,AAI17139,AAI17141,O43422,Q2YDB3,ADR83399 Hs.503315 DAP4|MGC102750|P52rIPK|THAP0 52 kDa repressor of the inhibitor of the protein kinase|58 kDa interferon-induced protein kinase-interacting protein|THAP domain-containing protein 0|death-associated protein 4|inhibitor of protein kinase PKR|p58IPK-interacting protein protein-coding 1353983 PRKX protein kinase, X-linked 1580863 9302280,15879576,19576564,9154127,9860982,10026146,7633447,17980165,15489334,12477932,12082174 5613 BE675757,NG_016716,HI635309,NM_005044,AC007685,CH471074,BC041073,DN996851,DN997580,X85545 CBX55118,NP_005035,EAW98726,EAW98727,EAW98728,AAH41073,CAA59733,P51817,ACE87614,ACE86927 Hs.390788 PKX1 OTTHUMP00000022862|protein kinase PKX1|serine/threonine-protein kinase PRKX protein-coding 1351417 PRKXP1 protein kinase, X-linked, pseudogene 1 14702039,9154127 441733 NG_005679,AC027020,AK095793,Y10481,Y10483 Hs.12250,Hs.376894 pseudo 1353247 PRKXP2 protein kinase, X-linked, pseudogene 2 5615 1351248 PRKY protein kinase, Y-linked This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromsoome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq] 1580863 9154127,19474452,15489334,12815422,12477932,9889101,9302280,9088640,7633447 5616 NR_028062,AC007284,AC010143,CH471163,Y13927,AA767129,AI929361,BC074851,BC074852,BG698237,Y10484,Y10485,Y15801 EAW59124,EAW59125,CAA74244,AAH74851,AAH74852,CAA71508,CAA71509,CAA75792,O43930 Hs.632287,Hs.721406 pseudo 736187 PRL prolactin 1642556,1642558,1642557,1642576,1642555,1642559,1642560,1642574,1642575,1580863 18647802,20823101,20889499,17884785,18752070,19051037,19451414,19551610,19727442,19851340,19897676,20032052,20053995,20080972,20124477,20352225,20424473,20547007,7984244,10854700,7221563,12552091,8421089,19574343,19555049,19491263,19404952,19401036,19384991,19115200,19086053,18771565,18636124,18556224,18432585,18403642,18252943,18207134,18156207,18063946,18053149,18022314,18006851,18006630,17984948,17785459,17785327,17607310,17590551,17587788,17564716,17550976,17548836,17507624,17468404,17351784,17289576,17260098,17187171,16981141,16848233,16807649,16630538,16608881,16507890,16434456,16396693,16384849,16378242,16214922,16187706,16133148,16103113,16045928,15993365,15645137,15504038,15489334,15218000,15192082,15063762,15031321,15026085,14984591,14647416,14645190,14580717,14565846,12928232,12729745,12687277,12679477,12668883,12559630,12524085,12485910,12477932,12459032,12445833,12154211,12036601,11997178,11923474,11721703,11721702,11721699,11721698,11721696,11721695,11721694,11721693,11721692,11721691,11665977,11437600,10966654,10935542,10690937,9626554,9266104,9220021,9207433,8015553,6325171,6260780,6146607,3595901,2567059,2050267,1707126,1697858,1601394,1126929,925136,743954,11162551,20587610,20163720,20399783,20716560,20734064,20846890,20307875,20427283,20655519 1642556,1642558,1642557,1642576,1642555,1642559,1642560,1642574,1642575 5617 NM_000948,NM_001163558,AF068859,AL023883,CH471087,X00540,BC015850,BC088370,CR596710,CR608839,D00411,DQ839492,GQ305133,M29386,U75583,V00566,X54393,X54394 NP_000939,NP_001157030,AAD12943,CAI20469,EAW55435,CAA25214,AAH15850,AAH88370,BAA00312,ABI63353,ACT52574,AAA60173,AAB70858,CAA23829,CAA38263,CAA38264,CAA38265,P01236,Q5I0G2,Q5THQ0,Q9UP51,ABM84054,ABM87406 Hs.1905 prolactin protein-coding 1352450 PRLH prolactin releasing hormone 729520,1641829,1580863 9607765,15891064,15489334,12477932,12126742,11523913,11030716,10599733,10498338,10475064 729520,1641829 51052 BC069284,NM_015893,AC104667,CH471063,AB015419,BC069081 NP_056977,AAY24046,EAW71117,BAA29027,AAH69081,AAH69284,P81277,Q53QV7 Hs.247710 PRH|PRRP preproprolactin-releasing peptide|prolactin-releasing hormone|prolactin-releasing peptide protein-coding 732732 PRLHR prolactin releasing hormone receptor PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM] 633970,1641829,1641832,1580863 19913121,20628086,8666380,9607765,16344560,15885496,15752583,15489334,15164054,14691196,12716769,12477932,12417311,12126742,11923475,11641419,11030716,10498338,10475064 633970,1641829,1641832 2834 NM_004248,AB048946,AL356865,CH471066,U32672,AB015745,AK290461,AK313269,AL528009,BC095539,BC101490,BC101492,BX471829,DA262254,EF577402 ABQ52422,P49683,NP_004239,BAB83030,CAH73066,EAW49413,EAW49414,AAC50504,BAA31159,BAF83150,BAG36078,AAH95539,AAI01491,AAI01493 Hs.248119,Hs.722691 GPR10|GR3|MGC126539|MGC126541|PrRPR G protein-coupled receptor 10|G-protein coupled receptor 10|OTTHUMP00000020584|hGR3|prRP receptor|prolactin releasing peptide receptor|prolactin-releasing hormone receptor|prolactin-releasing peptide receptor protein-coding 730871 PRLR prolactin receptor 1580863 20634197,20655519,19739126,19897676,19906835,20032052,20053995,20214633,20379614,20547007,20889499,20962278,10585417,7984244,15618286,9009200,19574343,19276348,19273600,19153125,19086053,19056863,18779591,18681966,18636124,18613925,18596217,18573876,18316598,18252943,18207134,18081308,18053149,17785459,17525486,17177141,16785991,16740656,16651265,16556730,16434456,16381901,16278670,16103113,15700312,15504038,15489336,15489334,15135067,15119991,15082796,14702039,14522994,12937675,12819209,12679477,12668872,12559630,12477932,12477494,12391112,12351696,12021177,11997178,11721697,11713228,11518703,11328862,11076863,10991949,10966654,10772872,10455112,10221598,10084611,9888587,9626554,9556914,9544990,9341613,9202403,8550784,7768923,7768908,7706371,7534043,6331435,6278192,2558309,2369845,1617425,1559983,20453834,20427283,20716560,20734064,20875426 5618 GU133399,BX538149,M31661,S78505,AC010368,AC091851,AF091870,AF214012,CH471119,S75672,AF166329,AF349939,AF416618,AF416619,AF492470,AF493068,AF493069,AF512796,AI022810,AI079645,AK001889,AK023665,AK313270,AY062295,BC059392,NM_000949 ACZ04321,AAA60174,AAB34470,P16471,Q16264,Q8TD76,Q8WWV7,CAL38328,CAL38451,NP_000940,AAD32032,EAW55913,EAW55914,EAW55915,EAW55916,EAW55917,EAW55918,EAW55919,AAB33685,AAD49855,AAK32703,AAL23914,AAL23915,AAM18048,AAM11660,AAM11661,BAG36079,AAL40855,AAH59392 Hs.368587 hPRLrI OTTHUMP00000221071|OTTHUMP00000221072|PRL-R|delta 4-SF1b truncated prolactin receptor|delta 4-delta 7/11 truncated prolactin receptor|hPRL receptor|prolactin receptor|prolactin receptor delta 7/11|secreted prolactin binding protein protein-coding 1350304 PRM1 protamine 1 1580863 2081589,18692784,18478156,18390561,18381856,18314125,18309899,18292846,18292840,17494104,17011555,16989827,16112646,15489334,14701833,12569175,12477932,10659848,10390541,8662749,8466000,8263493,7983046,7865133,7721781,4027356,3658707,3527226,2613245,2370044,8647104,19602509,19863670,20378615 5619 Y00443,AB281136,AC009121,AF215707,CH471112,M29706,M60331,S68144,U15422,Z46940,AK311987,AY651260,BC003673,BT006746,CD360017,CR595410,CR601490,CR607534,CR612045,CR625800,NM_002761,HC007228 CAA68499,P04553,Q3MN80,ABM83413,ABM86624,NP_002752,BAF36637,AAF34620,EAW85157,AAA60191,AAA63249,AAB29321,AAC50486,CAA87065,BAG34926,AAX35688,AAH03673,AAP35392,CBH19419 Hs.2909 CT94.1|P1 cancer/testis antigen family 94, member 1|cysteine-rich protamine|sperm protamine P1|testis specific protamine 1 protein-coding 737276 PRM2 protamine 2 1580863 1889406,19602509,19863670,20378615,11326282,2081589,18692784,18478156,18314125,18309899,18292846,18292840,17113348,17011555,16989827,16632464,15670415,15489334,12569175,12524352,12477932,11869379,11686187,10898591,10659848,9795985,9282840,9239704,8513794,8024562,7983046,7714151,3956509,3527226,3412906,3403514,2384091,2370044,1907596 5620 NM_002762,AB281137,AC009121,AF215713,CH471112,M60332,U15422,Z46940,AK130957,AK131573,AK292447,AK311798,BC005303,BC042671,BC066338,CR590545,CR591526,CR591903,CR595797,CR596622,CR598852,CR603750,CR609803,CR621790,X07862 NP_002753,BAF36638,AAF34632,EAW85158,EAW85159,AAA63250,AAC50487,CAA87066,BAD18705,BAF85136,BAG34741,AAH05303,AAH42671,AAH66338,CAA30710,P04554,Q1LZN1,Q6ZMM0 Hs.2324 CT94.2|FLJ27447 cancer/testis antigen family 94, member 2|protamine-2|sperm histone P2|sperm protamine P2 protein-coding 1345034 PRM3 protamine 3 729500 19602509,16581810,9827065,8720108,18978792 729500 58531 AC009121,CH471112,Z46940,NM_021247 NP_067070,EAW85160,CAB92526,Q9NNZ6,AAI72319 Hs.259636 gene 4|protamine-3|sperm protamine P3 protein-coding 731338 PRMT1 protein arginine methyltransferase 1 The PRMT1 gene encodes a protein arginine methyltransferase that functions as a histone methyltransferase specific for H4 (see MIM 602822).[supplied by OMIM] 1580863,737807,1359044,1300048,2326123 20442406,9029147,8663146,9545638,10749851,19414388,19183483,19170758,19161160,19158082,19144646,19136629,19124016,19078953,18700728,18657504,18495660,18316480,17971302,17891136,17848568,17550233,17264152,17052457,16879614,16861234,16713569,16492668,16294047,16294045,16189514,16169070,16159886,15741314,15737635,15364944,15345777,15324660,15186775,15084609,14734530,14583623,12737817,12718890,12529443,12509629,12477932,12183049,12171910,11856371,11850402,11448779,11387442,11257227,11152681,11097842,11050077,10899106,10772824,10652299,9891755,8675017,8288564,4924231,11513728,17353931,11483748,15674337,19643181,19682581,21172665,16782888,20473859,16980624,17043108,19596784,14966289,16051612,17053781,17643375,19641605,19913501,20064924,20497508 737807,1359044,2326123 3276 NM_001536,NM_198318,AC011495,AF222689,CH471177,AF085918,AK295973,AK304660,AL711069,AY775289,BC019268,BC109282,BC109283,CR407608,CR593945,CR593955,CR594562,CR595920,CR597161,CR597475,CR597777,CR606998,CR607814,CR608047,CR612299,CR614514,CR615809,CR618569,CR620963,CR622298,CR625308,D66904,Y10805,Y10806,Y10807,DN990556,NR_033397 NP_001527,NP_938074,AAF62893,AAF62894,AAF62895,EAW52518,EAW52519,EAW52520,EAW52521,BAG58749,BAG65435,AAV41837,AAH19268,AAI09283,AAI09284,CAG28536,BAA11029,CAA71763,CAA71764,CAA71765,Q5U8W9,Q8WUW5,Q99873,ABZ92509 Hs.20521 ANM1|HCP1|HRMT1L2|IR1B4 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2|HMT1 hnRNP methyltransferase-like 2|heterogeneous nuclear ribonucleoproteins methyltransferase-like 2 (s. cerevisiae)|interferon receptor 1-bound protein 4|protein arginine N-methyltransferase 1 protein-coding 1601836 PRMT10 protein arginine methyltransferase 10 (putative) 17708529,14702039,19300908,12477932 90826 NM_138364,AC093835,CH471056,AK096703,AK128483,AK292904,AL137452,BC004337,BC021250,BC064403,HH961802 NP_612373,EAX05011,EAX05012,EAX05013,EAX05014,BAG53354,BAC87459,BAF85593,CAB70744,AAH04337,AAH21250,AAH64403,Q6P2P2,CBX51374 Hs.591692 FLJ46629 putative protein arginine N-methyltransferase 10 protein-coding 1605435 PRMT2 protein arginine methyltransferase 2 12039952,9545638,17587566,16648481,16189514,15489334,14702039,14667819,12477932,11513728,10830953,9373149,9196002,9110174,8619474,8125298,16616919,19161160,19405910 3275 NM_206962,NM_001535,AP000339,AP000340,CH471079,AF059319,AK095641,AK123352,AK123650,AK124494,AK223157,AK312573,AL109794,AL833586,AY786414,BC000727,BC038765,BC100026,BF683143,BQ421001,CB529922,CR541804,CR600912,CR601878,FJ436410,FJ436411,FJ436412,U79286,U80213,X99209,HH961836 NP_996845,NP_001526,EAX09258,EAX09259,EAX09260,EAX09261,EAX09262,EAX09263,EAX09264,EAX09265,AAG43116,BAG53931,BAD96877,CAB52454,AAV48568,AAH00727,AAH38765,AAI00027,CAG46603,ACJ66866,ACJ66867,ACJ66868,AAB50221,AAB48437,CAA67599,P55345,Q498Y5,Q49AF9,Q53FX4,Q5U7D4,Q99781,Q9H3L6,ABM83052,ABM86245,CBX51391 Hs.154163 HRMT1L1|MGC111373 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1|HMT1 hnRNP methyltransferase-like 1|OTTHUMP00000207831|PRMT2 alpha|PRMT2 beta|PRMT2 gamma|protein arginine N-methyltransferase 2 protein-coding 1604394 PRMT3 protein arginine methyltransferase 3 Type I protein arginine N-methyltransferases (PRMTs), such as PRMT3, catalyze the formation of asymmetric N(G),N(G)-dimethylarginine (ADMA) residues in proteins (Tang et al., 1998 [PubMed 9642256]).[supplied by OMIM] 19641605,9642256,19158082,16344560,15489334,15334060,15175657,14702039,12477932,10224081,18573314,19913121,20628086 10196 NM_005788,NM_001145166,NM_001145167,AC025972,AC108005,CH471064,AF059531,AK125039,AK129984,AK298185,AK300591,AK301449,AK307776,BC019339,BC037544,BC047226,BC064831,CA428457,DA163907,DB510248 NP_005779,NP_001138638,NP_001138639,EAW68333,EAW68334,EAW68335,EAW68336,AAC39837,BAG60456,BAG62289,BAG62973,AAH19339,AAH37544,AAH64831,O60678,Q8WUV3,ACE87112,ACE86437 Hs.152337 HRMT1L3 HMT1 hnRNP methyltransferase-like 3|heterogeneous nuclear ribonucleoprotein methyltransferase-like 3|heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 3|protein arginine N-methyltransferase 3 protein-coding 1319178 PRMT5 protein arginine methyltransferase 5 2299953,1580863,1359044 15369763,18404153,17709427,9843966,15130578,19234465,19086919,19032343,18992153,18694959,18347060,17627275,17573539,17437848,16712789,16087681,15737618,15701830,15670829,15489334,15485929,15324660,14702039,14583623,14559996,12718890,12665801,12477932,12358155,12101096,11756452,11747828,11720283,11713266,11152681,10734105,10531356,9556550,16169070,19188441,20951943,20495075,15654770,16699504,17643375,18029348,19741270,20195544,16980624,19520849,16428440,17707232,20421892 2299953,1359044 10419 NM_001039619,NM_006109,AL132780,CH471078,CQ783364,AB451246,AB451370,AF015913,AF167572,AK027737,AK075251,AK300863,AK301812,AK302240,AK315500,AL833612,BC005820,BC025979,CR456741,CR592633,CR600238,CR618721,CR621553,CR623163,CR624259,CR625183,CR625282,CR625472,HB747718,HB747748,HB762875,HB762905,HB736152,HB736182,HB744581,HB744611,FB789353,FB789383,FB811362,FB811392,FB824205,FB824235,FB827318,FB827348,FB832629,FB832659,FB833178,FB833208,FB835923,FB835953,FB847656,FB847686,FB857233,FB857263,FB866093,FB866123,FB874522,FB874552,FB877659,FB877689,FB884959,FB884989,FB892816,FB892846,FB895939,FB895969,FB898146,FB898176,HB659412,HB659442,HB681421,HB681451,HB694264,HB694294,HB697377,HB697407,HB702688,HB702718,HB703237,HB703267,HB705982,HB706012,HB717715,HB717745,HB727292,HB727322,HB755018,HB755048,HB765998,HB766028,HB768205,HB768235,HB830570,HB830600 NP_001034708,NP_006100,EAW66217,EAW66218,EAW66219,EAW66220,EAW66221,CAF86569,BAG70060,BAG70184,AAB66581,AAF04502,BAG52095,BAG62512,BAG63261,BAG63592,BAG37884,AAH25979,CAG33022,O14744,ABM84347,ABM87772,CBC61885,CBC61915,CBC69422,CBC69455,CBC72246,CBC72276,CBC85871,CBC85900,CAW36507,CAW36522,CAW47075,CAW47090,CAW52884,CAW52899,CAW54329,CAW54344,CAW56663,CAW56678,CAW56884,CAW56899,CAW58130,CAW58145,CAW63380,CAW63395,CAW67682,CAW67697,CAW71688,CAW71703,CAW75488,CAW75503,CAW76906,CAW76921,CAW80180,CAW80195,CAW83710,CAW83725,CAW85688,CAW85725,CAW88052,CAW88087,CBC02460,CBC02475,CBC12707,CBC12736,CBC24395,CBC24426,CBC27261,CBC27290,CBC31963,CBC31992,CBC32400,CBC32427,CBC34850,CBC34879,CBC45305,CBC45335,CBC53883,CBC53913,CBC78810,CBC78840,CBC88583,CBC88615,CBC90649,CBC90681,CBD29472,CBD29487 Hs.367854 HRMT1L5|IBP72|JBP1|SKB1|SKB1Hs 72 kDa ICln-binding protein|HMT1 hnRNP methyltransferase-like 5|SKB1 homolog|histone-arginine N-methyltransferase PRMT5|jak-binding protein 1|protein arginine N-methyltransferase 5|shk1 kinase-binding protein 1 homolog|skb1 homolog (s. pombe) protein-coding 1312299 PRMT6 protein arginine methyltransferase 6 Protein arginine N-methyltransferases, such as PRMT6, catalyze the sequential transfer of a methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins to form methylated arginine derivatives and S-adenosyl-L-homocysteine.[supplied by OMIM] 1580863,1359044 17898714,18079182,11724789,16157300,16600869,18077460,17267505,17176473,16344560,16293633,15596808,15489334,14702039,12477932,11827452,9373149,8125298,17169163,19509293,19754311,20473859 1359044 55170 NM_018137,AL355539,CH471156,AI754232,AK001421,AK226009,AK295541,AK297898,AY043278,BC002729,BC013866,BC063446,BC073866,CR621406,DA073209 NP_060607,CAI19090,EAW51248,BAA91681,BAG58450,BAG60218,AAK85733,AAH02729,AAH63446,AAH73866,Q96LA8 Hs.26006 FLJ10559|FLJ51477|HRMT1L6 HMT1 hnRNP methyltransferase-like 6|OTTHUMP00000012633|heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 6|histone-arginine N-methyltransferase PRMT6|hmt1 hnrnp methyltransferase-like 6 (s. cerevisiae)|protein arginine N-methyltransferase 6 protein-coding 1601867 PRMT7 protein arginine methyltransferase 7 Arginine methylation is an apparently irreversible protein modification catalyzed by arginine methyltransferases, such as PMT7, using S-adenosylmethionine (AdoMet) as the methyl donor. Arginine methylation is implicated in signal transduction, RNA transport, and RNA splicing (Miranda et al., 2004 [PubMed 15044439]).[supplied by OMIM] 15044439,15494416,19110445,17709427,16051612,15489334,14702039,12477932,11572484,20562859,16344560,18992153,16712791,20700443 54496 AC020978,AC099521,CH471092,AB067520,AK001502,AK022739,AK056647,AK097175,NM_019023,AK304605,BC000146,CR604457,CR610385,CB140365,DA287041,DA648148,NM_001184824 NP_061896,EAW83224,EAW83225,EAW83226,EAW83227,EAW83228,EAW83229,EAW83230,EAW83231,EAW83232,BAB67826,BAA91726,BAB14215,BAG51772,BAG53431,BAG65391,AAH00146,Q9NVM4,NP_001171753 Hs.653193 FLJ10640|KIAA1933 [Myelin basic protein]-arginine N-methyltransferase PRMT7|histone-arginine N-methyltransferase PRMT7|myelin basic protein-arginine N-methyltransferase|protein arginine N-methyltransferase 7 protein-coding 1605979 PRMT8 protein arginine methyltransferase 8 Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM] 16051612,19060911,18698489,18320585,17925405,15489334,14702039,12477932,16189514,16713569,17643375,19060904,20379614 56341 NM_019854,AC005831,AC005908,AC005925,CH471116,AB209027,AF263539,AK026786,AK093651,AK315619,BC022458 NP_062828,EAW88861,EAW88862,BAD92264,AAF91390,BAB15553,BAG37987,AAH22458,Q59GT2,Q9H5R7,Q9NR22,ABM83307,ABM86519 Hs.504530 HRMT1L3|HRMT1L4 HMT1 hnRNP methyltransferase-like 3|HMT1 hnRNP methyltransferase-like 4|heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 4|protein arginine N-methyltransferase 4|protein arginine N-methyltransferase 8 protein-coding 1315338 PRND prion protein 2 (dublet) This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq] 1580863 19363267,19129949,18936526,17894227,17390034,17201176,17047093,16889908,16421231,15986038,15933804,15489334,15246873,15203115,15158907,14970845,14745079,12975309,12595265,12586339,12514748,12477932,12399017,12200435,11780052,11734625,11702213,11063595,10825657,10577243,20379614,17207965,19728151,10525406 23627 NM_012409,AF106918,AL133396,CH471133,DQ408534,EU009729,AF086354,AF187843,AF187844,AK313404,AY358985,BC043644 NP_036541,AAF02424,CAB75502,EAX10448,ABD63007,ABU40603,AAG43448,AAG43449,BAG36200,AAQ89344,AAH43644,Q27H88,Q9UKY0,ADQ32525 Hs.406696 DOPPEL|DPL|MGC41841|PrPLP|dJ1068H6.4 prion gene complex, downstream|prion-like protein doppel protein-coding 737306 PRNP prion protein The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1599946,1599950,1580863 20465257,20515742,20515743,20515747,20574532,20583902,20592456,20506117,18706660,18691383,18665216,18638557,18619462,18597782,18563793,18549399,18549395,18539633,18508914,18505059,18482256,18478114,18445040,18443555,18436646,18425766,18423780,18419754,18413481,18406463,18372408,18349519,18347820,18332630,18325785,18275852,18247504,18236081,18236005,18218718,18217885,18204788,18191917,18188498,18038270,18025469,18006836,17996224,17987393,18720902,17965961,17873292,17822808,17709704,17570906,17560545,17559305,17539938,17519231,17497959,17472702,17449139,17414209,17410475,17409275,17385076,17334659,17313881,17276393,17260961,17242357,17202849,17192785,17156017,17149767,17134829,17121821,17092648,17047093,17029361,17023178,16987816,16950206,16934224,16925523,16921242,16914329,16908519,16897605,16889908,16858508,16847689,16847141,16831968,16825951,16824036,16764594,16750169,16713569,16704797,16674609,16672189,16582585,16580884,16547836,16545382,16543824,16537913,16533975,16519692,16478730,16460908,16443601,16434486,16432880,16344560,16342955,16324095,16315279,16314483,16298483,16287045,16263114,16217673,16215462,16215457,16192387,16187142,16175355,16156720,16120605,16119432,16099923,16099550,16051190,16025285,16009550,15997418,15987701,15946217,15862295,15850959,15846375,15837581,15775715,15748158,15684434,15639746,15609351,15591591,15583862,15557533,15555583,15539564,15489334,15488240,15469448,1671440,1439789,1363810,1363802,1357663,1352724,1351748,1347910,1346338,16169070,11438139,15145944,20562404,20932979,21107135,11900542,19051123,19249347,19369250,19556894,19583442,19597535,19601795,19602567,19607920,19643043,19675240,19690385,19696976,19697238,19698114,19709627,19710507,19734292,19786843,19807656,19822779,19882604,19889475,19910028,19911184,19917818,19923577,19927125,20004419,20005032,20035629,20036811,20036833,20077484,20105449,20109837,20145049,20392961,20413850,20453509,20487506,20816195,20880607,20718410,20799315,20923664,20949975,19725833,20541558,20547859,16825956,15342556,1672107,17827389,16294306,16286452,16004966,3755672,19606064,19587281,19558790,19534429,19524515,19495414,19477226,19476383,19416900,19363267,19351416,19327369,19321423,19278656,19228673,19226372,19218199,19212444,19204171,19196429,19172188,19164910,19158507,19156168,19140013,19129193,19099191,19081515,19077115,19074151,19064990,19056496,19035579,19030774,19010951,19008948,18990686,18959744,18955686,18930924,18830724,18810471,18786636,18722532,11584448,11571277,11559357,11283320,11278562,11244488,11220690,11161453,11120925,11100730,11062072,11060296,11032800,10988071,10987652,10970892,10954699,10900000,10790216,10631141,10618385,10581485,10090891,9799790,9786248,9482303,9473220,9384372,9266722,8962161,8909447,8797472,8797471,8676499,8461023,8364585,8105771,7913755,7906019,7902972,7902693,7783876,7699395,7642585,7630420,7592679,7572084,7485229,3014653,2783132,2572450,2567794,2564168,2180366,2159587,1736177,1683708,1678248,1677164,15304595,15277640,15266305,15258222,15247220,15215178,15208260,15203115,15148589,15146195,15140132,15131108,15123682,15050367,14983221,14970845,14761942,14745079,14744790,14702039,14668351,14645231,14623188,14616310,14610121,14593432,14576159,14519851,12970341,12952977,12946346,12917444,12917418,12867116,12805563,12796830,12778138,12719777,12694397,12692258,12690204,12684540,12682740,12679875,12679034,12659837,12645301,12621436,12601712,12590162,12568340,12547204,12543108,12514748,12477932,12464104,12459456,12399017,12392052,12359724,12356908,12356762,12205650,12186633,12161431,12093732,12084159,12070046,12034503,11986958,11961239,11882649,11840201,11833672,11787070,11780052,11775001,11756421,11709001,11704923,11684342,11593450,19210573,19996123,20049591,20552563,20583301,20625387,20650901,20685658,20564346,20175205,20529115,20661422,20526338,19542614,19728151,20028338,20195363,20422111,20573963,20576610,20613639 1599946,1599950 5621 NM_001080121,NM_183079,NM_001080122,NM_001080123,NG_009087,AF030575,AF076976,AF085477,AF315723,AL133396,AY219882,AY219883,AY458651,CH471133,DQ408531,M81929,M81930,S71208,S71210,S71212,S79978,S80539,S80732,S80743,NM_000311,HM459606,S83341,U29185,X83416,AB300823,AB300825,AK090575,AK293312,AK295415,AK295943,AK312276,AW452130,AY008282,AY569456,BC012844,BC014544,BC016809,BC022532,BG397054,BI669189,BP251427,BT019496,CR542039,CR542072,CR597450,CR611378,CR613118,D00015,DA122620,DA297032,DB461478,M13667,M13899 NP_000302,NP_001073590,NP_898902,NP_001073591,NP_001073592,AAC05365,AAD46098,AAC62750,CAB75503,CAI19053,AAO83635,AAO83636,AAR21603,EAX10449,EAX10450,ABD63004,AAB59442,AAB59443,AAB20521,AAB20522,AAB20523,AAB35416,AAB21334,AAB50648,AAB50649,ADO16981,AAB50777,AAC78725,CAA58442,BAG32276,BAG32278,BAG52189,BAG56832,BAG58365,BAG58727,BAG35206,AAG21693,AAS80162,AAH12844,AAH22532,AAV38303,CAG46836,CAG46869,BAA00011,AAA19664,AAA60182,O75942,P04156,Q16409,Q53YK7,Q540C4,Q5U0K3,Q6FGN5,Q6FGR8,Q6SES1,Q7KYY8,Q7KYZ4,Q86XR1,ABM82244,ABM85428,CAM27320 Hs.727471,Hs.472010,Hs.610285 ASCR|CD230|CJD|GSS|MGC26679|PRIP|PrP|PrP27-30|PrP33-35C|PrPc|prion CD230 antigen|OTTHUMP00000030161|OTTHUMP00000161139|major prion protein|p27-30|prion protein|prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)|prion protein PrP|prion-related protein protein-coding 1353334 PRNT prion protein (testis specific) 17199895,16889908,16460908,15342797,12514748,12477932 149830 NR_024267,NR_024268,NR_024269,AL133396,CH471133,AJ427539,AJ427540,AL137296,BC137389,BC137390 EAX10447,CAD20690,CAD20691,Q86SH4,CAX15126 Hs.126516 M8 miscrna 1342561 PRO1 progeria 1 (Hutchinson-Gilford type) 353215 737321 PROC protein C (inactivator of coagulation factors Va and VIIIa) The PROC gene encodes protein C (EC 3.4.21.69), a vitamin K-dependent plasma glycoprotein that is a key component of the anticoagulant system. Protein C is cleaved to its activated form, 'activated protein C' (APC) on endothelial cells by the thrombin-thrombomodulin complex (MIM 176930; MIM 188040) and then acts as a serine protease to degrade the activated forms of coagulation factors V (F5; MIM 612309) and VIII (F8; see MIM 306700). Protein S (PROS1; MIM 176880), also a vitamin K-dependent plasma protein, functions as a cofactor to activated protein C.[supplied by OMIM] 1578391,1578392,1578389,1581278,1580863,1578517,1578514,1578515 19913121,20485444,20628086,20673868,20802025,8292730,8218861,8128429,8003977,7989361,7974343,7919373,7881411,7878626,7865674,7841324,7841323,7792728,7605880,7548163,6589623,6572939,3511471,3185623,2991887,2991859,2912888,2602169,2544585,2461936,2437584,2105310,2033065,1939075,1868249,1761551,1694179,1615482,1611081,1593215,1544894,1511989,1511988,1498334,1469096,1433913,1347706,1301959,1301954,1270437,2551064,19129726,1290170,17649706,19244160,19279234,19350118,19350130,19373522,19404546,19506951,19546541,19587380,19625989,19644401,19682239,19686413,19691480,19765701,19774219,19794411,19874463,19892996,19922983,19924026,19958090,20066740,20127387,20128871,20180321,20452482,20499136,3427056,468991,7479820,8537329,8889548,9108399,17704111,17677000,17646160,17603240,17569089,17557119,17549291,17343367,17284699,17255099,17254565,17170365,17107352,17054378,17048007,16935856,16887970,16867987,16765424,16607073,16601829,16420659,16418283,16344560,16335952,16246255,16146761,16113841,16113807,16113785,16105054,16095499,15978566,15860736,15841323,15769747,15710622,15705565,15670041,15665002,15634335,15582990,15516929,15505101,15489334,15486064,15337738,15319291,15308562,15178554,15116250,15114590,14976057,14961149,14675098,14660667,14517747,12960605,12871399,12609838,12588872,12540965,12482406,12477932,12407115,12200374,12195699,12193972,12091346,12091344,12067914,12063259,12029084,11994010,11761087,11686318,11380450,11123896,11106601,11099506,10681521,10649502,10026263,9798967,9683579,9395524,9334197,9252393,9003757,8947506,8945631,8829639,8499568,8499565,8477066,8446940,8400292,8398832,8324221,15248212,15005336,12563316,12052963,14718574,18029348,2538457,19248107,19244161,19190829,19132190,19116273,19052924,18974842,18954896,18953177,18824642,18779332,18768782,18702832,18680736,18680534,18612533,18573519,18496716,18489431,18457995,18451327,18424440,18424361,18376272,18329782,18247057,18198180,18184931,18160601,18089851,18045665,17982464,17932312,17890957,17849052,16712791,20404340,19535131,19680809,20675283,20873219,20077116,20174758,20664913,20881312,20707712,20156643,20409682,20187890 1578391,1578392,1578389,1581278,1578517,1578514,1578515 5624 BM975043,NG_016323,S55227,NM_000312,AB083690,AB083693,AB083695,AB083696,AB083697,AB083698,AB083699,AB083700,AB086849,AB086850,AB086851,AB086852,AC068282,AF378903,AY348553,AY348554,AY454079,CH471103,CQ757487,CQ821348,M11228,M12712,S58668,AK298280,AK298449,AK298454,AK303773,BC034377,CB113383,CR606412,DA642156,K02059,S50739,X02750,CS355172,GM997828,GM997830 AAB25410,NP_000303,BAC21165,BAC21166,BAC21167,BAC21168,BAC21169,BAC21170,BAC21171,BAC21172,BAC53629,BAC53630,BAC53631,BAC54280,AAY15044,AAK56377,AAQ24849,AAQ24850,AAR23427,EAW95320,CAF32600,CAG34344,AAA60166,AAA60165,AAB26335,BAG60540,BAG60665,BAG60669,BAG64736,AAH34377,AAA60164,AAB24150,CAA26528,P04070,Q6SPC0,Q6V7X8,Q6V7X9,Q8IXB4,Q8IXB5,Q8IXB6,Q8IXB7,Q8J002,Q8J003,Q8J004,Q8J005,Q8J006,Q8J007,Q8J008,Q8J009,ABM81717,ABM84873,CAL24228,CAX30697,CAX30698 Hs.224698 APC|PC|PROC1 OTTHUMP00000203820|OTTHUMP00000203827|anticoagulant protein C|autoprothrombin IIA|blood coagulation factor XIV|protein c|vitamin K-dependent protein C protein-coding 1603267 PROCA1 protein interacting with cyclin A1 17207965,15159402,12477932 147011 NM_152465,AC010761,CH471159,AK301868,AK310299,AL137531,AY601916,BC029574 ADQ31738,NP_689678,EAW51125,EAW51126,BAG63307,AAT09159,AAH29574,Q6PKN3,Q8NCQ7 Hs.207471 MGC39650 proline-rich cyclin A1-interacting protein|protein PROCA1 protein-coding 1314349 PROCR protein C receptor, endothelial (EPCR) The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. [provided by RefSeq] 1578508,1580863 19913121,20506163,20628086,7929370,19238444,19236779,19222470,19004141,18977990,18757851,18680534,18612544,18604550,18555797,18539144,18480081,18443268,10570964,10518938,10397730,10364477,9396465,1051893,16169070,20619102,19129726,20141580,18278202,18160602,18073349,17849044,17823308,17570903,17454790,17439632,17327234,17170365,17155946,17099210,17099142,17054378,17049585,17027065,16444434,16409473,16354200,16354176,16153429,16113830,15978102,15954900,15921688,15710622,15634335,15489334,15304035,15178554,15150078,15116250,15080580,14576048,12911608,12897745,12871285,12831462,12683950,12586611,12563316,12560236,12529763,12514663,12477932,12439143,12413583,12152662,12152660,12052963,12034704,11780052,11776299,11703343,11686350,11552992,11099506,10681599,10681521,18403391,19296056,19436051,19467228,19587380,19696402,19806250,19860767,19895674,20231535,20237496,20802025 1578508 10544 NM_006404,AB026584,AF106202,AF375468,AL356652,CH471077,AK314887,BC014451,BG423815,CR456948,CR601108,CR601276,CR601500,L35545,X89079 NP_006395,BAA77249,AAD43967,AAK53045,CAC16283,EAW76223,EAW76224,BAG37401,AAH14451,CAG33229,AAA63647,CAA61450,Q9UNN8,ABM83760,ABM87080 Hs.647450 CCCA|CCD41|CD201|EPCR|MGC23024|bA42O4.2 APC receptor|CD201 antigen|OTTHUMP00000030729|activated protein C receptor|cell cycle, centrosome-associated protein|centrocyclin|endothelial cell protein C receptor|endothelial protein C receptor protein-coding 1343717 PRODH proline dehydrogenase (oxidase) 1 The protein encoded by this gene is a mitochondrial proline dehydrogenase that catalyzes the first step in proline degradation. Defects in this gene are a cause of hyperprolinemia type 1 and possibly susceptibility to schizophrenia 4 (SCZD4). The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes DiGeorge syndrome and CATCH22 syndrome. [provided by RefSeq] 635270,1580863,1599206 18583979,19415679,19654292,19736351,19942609,20201098,20398908,20524212,10490714,1349369,7644464,7762575,7909992,8178837,9731535,9754621,20562915,10192398,9305847,19367581,19232576,19140736,18989458,18794809,18247315,18197084,18163391,17604122,17504246,17412540,17135275,17106420,16874462,16860541,16791139,16619034,16303758,16094254,15914462,15662599,15494707,15489334,15449943,15274030,15146197,14702039,12815738,12525555,12514185,12477932,12217952,11891283,11280728,9385373,7566098,8889548,20877624,21041608 635270,1599206 5625 NM_016335,NG_008226,AC007326,CH471176,AA322439,AB209472,AF010310,AK001359,AK091063,BC036534,BC068260,BC094736,BC118597,BC121809,CN362765,U79754,BU730461,CB216963,NM_001195226 NP_057419,EAX03073,EAX03074,BAD92709,AAC39529,AAH68260,AAH94736,AAI18598,AAI21810,AAF21464,O43272,NP_001182155 Hs.517352 FLJ33744|HSPOX2|MGC148078|MGC148079|PIG6|POX|PRODH1|PRODH2|SCZD4|TP53I6 OTTHUMP00000196496|OTTHUMP00000196497|p53-induced gene 6 protein|proline dehydrogenase, mitochondrial|proline oxidase 2|proline oxidase, mitochondrial|tumor protein p53 inducible protein 6 protein-coding 1315565 PRODH2 proline dehydrogenase (oxidase) 2 The protein encoded by this gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme which catalyzes the first step in proline catabolism. The function of this protein has not been determined. [provided by RefSeq] 1580863 18287100,12477932,20877624 58510 NM_021232,AC002398,U95090,BC038853,BC039710,U80018,HH769066 NP_067055,AAB80768,AAF21465,O00420,Q9UF12,AAI66629,CBX85264 Hs.515366 HSPOX1 kidney and liver proline oxidase 1|probable proline dehydrogenase 2|probable proline oxidase 2 protein-coding 736057 PROK1 prokineticin 1 Endocrine gland-derived vascular endothelial growth factor (EG-VEGF) induces proliferation, migration, and fenestration in capillary endothelial cells derived from endocrine glands. Its expression is induced by hypoxia and is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta). Its expression is often complementary to the expression of VEGF (MIM 192240), suggesting that these molecules function in a coordinated manner.[supplied by OMIM] 1580863 12427552,19135668,19285664,19801577,17167981,19523441,19255255,19077468,18571163,18339712,17683928,17289879,17178891,16763065,16320832,16263331,16210375,15340161,15292351,15126581,15126578,12975309,12915658,12858543,12759245,12604792,12538479,12477932,11528470,11259612,19602057,20172976,20847187,20400074,19913121,20628086,18577758 84432 NM_032414,AL358215,AL390797,CH471122,CS023555,AF333024,AY029225,AY358683,BC025399,BM544315,CS583905 NP_115790,CAH74102,CAH71489,EAW56449,EAW56450,CAI59103,AAK49918,AAK33111,AAQ89046,AAH25399,P58294,ABM82496,ABM85689,CAN87427 Hs.514793 EGVEGF|PK1|PRK1 EG-VEGF|black mamba toxin-related protein|endocrine-gland-derived vascular endothelial growth factor|mambakine|prokineticin-1 protein-coding 1350776 PROK2 prokineticin 2 This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 12728244,12604792,11259612,10580115,12466223,19336519,18723471,18682503,18559922,18300343,18285834,17959774,17903308,17054399,16763065,15772293,15548611,15489334,15340161,15126578,14978236,12477932,12024206,11054548,20172976,18577758,12427552,20022991,20389090,20734064 60675 NM_021935,NM_001126128,NG_008275,AC096970,CH471055,CS023558,AF182069,AF333025,AY349131,BC069395,BC096695,BC098110,BC098162,CS583902 NP_068754,NP_001119600,EAW65506,EAW65507,EAW65508,CAI59104,AAG16893,AAK49919,AAR06657,AAH69395,AAH96695,AAH98110,AAH98162,Q6ISR0,Q9HC23,CAN87426 Hs.528665 BV8|KAL4|MIT1|PK2 prokineticin-2|protein Bv8 homolog protein-coding 733659 PROKR1 prokineticin receptor 1 1580863 18339712,16763065,15815621,15489334,15126578,14702039,12477932,12427552,12054613,11886876,10760605,19801577,20023120,20847187 10887 NM_138964,AC105054,CH471053,AB084080,AF506287,AY089976,BC100960,EF577399 NP_620414,AAY24114,EAW99869,BAC24021,AAM48127,AAM11892,AAI00961,ABQ52419,Q8TCW9 Hs.683430 GPR73|GPR73a|PKR1|ZAQ G protein-coupled receptor 73|G protein-coupled receptor ZAQ|G-protein coupled receptor 73|G-protein coupled receptor ZAQ|OTTHUMP00000159967|PK-R1|g protein-coupled receptor i5e|prokineticin receptor 1 protein-coding 1353227 PROKR2 prokineticin receptor 2 Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq] 1580863 20734064,20847187,16754659,20389090,18826963,18723471,18682503,18559922,17054399,16763065,15489334,15126578,12477932,12427552,11886876,11780052,20576534,19544013,20022991,20023120,20379614 128674 NM_144773,NG_008132,AL121755,CH471133,AB084081,AF506288,AK289995,BC104959,BC104961,EF577398 NP_658986,CAI22379,EAX10422,BAC24022,AAM48128,BAF82684,AAI04960,AAI04962,ABQ52418,Q8NFJ6 Hs.375029 GPR73L1|GPR73b|GPRg2|KAL3|PKR2|dJ680N4.3 G protein-coupled receptor 73-like 1|G-protein coupled receptor 73-like 1|PK-R2|prokineticin receptor 2 protein-coding 1351065 PROL1 proline rich, lacrimal 1 This gene encodes a member of the proline-rich protein family. The protein may provide a protective function at the eye surface. [provided by RefSeq] 10831095,18410445,17101991,15851553,12477932,8670737 58503 NM_021225,AC106884,CH471057,CS162528,CS174966,BC092438,CD722615,CK430664,S83198 NP_067048,EAX05620,CAJ32190,CAJ34589,AAB46823,Q99935,AAI41466,AAI48721 Hs.661425 BPLP|PRL1 basic proline-rich lacrimal protein|basic proline-rich protein|proline-rich 1|proline-rich protein 1 protein-coding 1345263 PROM1 prominin 1 This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15489336,15254585,15231568,15226377,15115691,14702039,14630820,12799292,12657606,12477932,12042327,11467842,11076863,10587575,10205271,10075457,9389721,9373149,8125298,20428792,17545092,20487522,20593500,20309962,9389720,19385971,19342601,19216024,19153665,19147788,19047148,19017033,18985161,18853445,18836486,18829568,18829544,18802032,18781171,18754869,18702870,18679414,18654668,18645205,18644979,18602031,18568776,18542072,18511311,18497883,18403755,18402255,18398820,18398462,18374086,18371181,18192867,18172261,18096722,17999603,17977646,17912948,17883595,17868344,17785371,17605048,17594720,17498271,17487431,17388661,17253947,17205516,17122772,17081983,17077937,17077324,16914572,16809613,16439688,16381901,16344560,16303743,15558321,20393116,20560029,20617370,17605847,18410526,19369008,19404394,19430532,19509143,19583834,19583859,19584075,19621338,19626493,19657699,19676044,19718270,19718438,19723143,19724847,19724856,19744348,19752721,19760928,19786935,19805294,19816957,19842219,19904829,19940551,20023382,20042663,20056076,20062010,20068153,20081809,20167130,20196115,20333645,20347795,20379614,20530428,20564348,20181261,20346143,21054902,20379837,20707712,20551139,20853315,20872808,20395004,20502714,20530554,20606680,20596619,20711432,20800872,20936779 8842 NG_011696,NM_001145848,NM_001145847,NM_001145849,NM_001145850,NM_001145851,NM_001145852,AC005598,AC108063,CH471069,AA622198,AF027208,AF117225,AF507034,AK025391,AK027420,AK027422,AK075411,AK226033,AK310415,AK314529,AK315889,AY449689,AY449690,AY449691,AY449692,AY449693,BC012089,DB326234,NM_006017 NP_006008,NP_001139320,NP_001139319,NP_001139321,NP_001139322,NP_001139323,NP_001139324,EAW92750,EAW92751,EAW92752,AAB92514,AAO15307,AAM33415,BAG51316,BAG51317,BAG52133,BAF98780,AAS19705,AAS19706,AAS19707,AAS19708,AAS19709,AAH12089,O43490,CAL38231,ABM86378,ABW03789 Hs.614734 AC133|CD133|CORD12|MCDR2|MSTP061|PROML1|RP41|STGD4 OTTHUMP00000217744|OTTHUMP00000217745|OTTHUMP00000217746|antigen AC133|hProminin|hematopoietic stem cell antigen|prominin-1|prominin-like 1|prominin-like protein 1 protein-coding 1353767 PROM2 prominin 2 633875,1580863 20333396,18536929,17145811,14702039,12975309,12514187,12477932,16344560,19724856 633875 150696 NM_144707,AC009238,CH471219,AF245303,AF245304,AK091175,AK091408,AK290366,AK313267,AY358377,BC025736,BC113877,BC114525,AI928825,DB003233,NM_001165977,NM_001165978 NP_653308,AAY14751,EAX10718,EAX10719,EAX10720,EAX10721,EAX10722,AAM10541,AAM10542,BAC03599,BAC03657,BAF83055,BAG36076,AAQ88743,AAI13878,AAI14526,Q8N271,NP_001159449,NP_001159450 Hs.469313 MGC138714|PROM-2|PROML2 hPROML2|prominin-2|prominin-like protein 2|prominin-related protein protein-coding 1344010 PROP1 PROP paired-like homeobox 1 PROP1 has both DNA-binding and transcriptional activation ability. Its expression leads to ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes, and caudomedial thyrotropes. Inactivating mutations in PROP1 result in deficiencies of luteinizing hormone (LH; MIM 152780), follicle-stimulating hormone (FSH; MIM 136530), growth hormone (GH; MIM 139250), prolactin (PRL; MIM 176760), and thyroid-stimulating hormone (TSH; MIM 188540). See combined pituitary hormone deficiency (CPHD; MIM 262600).[supplied by OMIM] 704351,1601503,1601504,1580863 19913121,20628086,20381582,12519826,9462743,18653712,18157385,17526949,17526936,16703408,15963055,15941866,15531542,15489334,15472232,15302300,15126542,14714741,14646405,12717343,12477932,12464226,12006708,11822586,11549703,11283314,11134108,10946881,10323394,10199788,10084575,9920061,9824293,9768691,9745452,9685346,9661653,19128366,19453261,20534763,20181723,20395664 704351,1601503,1601504 5626 NM_006261,BC069076,NG_015889,AC136940,AF041141,AF076214,CH471390,AF076215 AAC77454,AAH69076,O75360,NP_006252,AAC27900,AAC77453,EAW50395 Hs.158301 CPHD2 PROP-1|homeobox protein prophet of Pit-1|pituitary-specific homeodomain factor|prophet of Pit1, paired-like homeodomain transcription factor protein-coding 1342781 PROS1 protein S (alpha) This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. [provided by RefSeq] 1578677,1578508,2300011,1599209,1580863 19492164,20673868,20811787,8146182,9657428,14718574,19437370,19404554,19244162,19004141,18954896,18945960,18922854,18841302,18824642,18784085,18779332,18768782,18680534,18485091,18435454,18433462,18424440,18419747,18322254,18278202,18250462,18067603,18045239,18029348,17958742,17938802,17890957,17849042,17597997,17393035,17157360,16969634,16961608,16961607,16935856,16885060,16868938,16840717,16720551,16672217,16607073,16493484,16488980,16461766,16363235,16344560,16335952,16229836,16105054,16100035,15978566,15893367,15748239,15670064,15489334,15456488,15292065,15175796,15096498,14652633,14515184,12907438,12871408,12492479,12490286,12477932,12447359,12413608,12193972,12193728,11927129,11858485,11848449,11843280,11776305,11686322,20539904,20693287,14630798,19128822,19466456,19630792,19679847,19744001,19815836,19874463,19878975,19924026,20002538,20200160,20452482,20022358,11467946,10744423,10593904,10447256,9252393,8889548,8641360,8616098,8428962,8422460,8298131,7620160,6454142,6239102,3467362,2974696,2961379,2952034,2944113,2940598,2820795,2526663,2461936,2148653,2148111,2148110,2143091,1833851,1615482,1534488,1531628,214811,20308596,20348395,20398916,20881312,20088940,20514628 1578677,1578508,2300011,1599209 5627 NM_000313,NG_009813,AB083386,AB083387,AB083389,AB083390,AB083391,AB083392,AB083393,AB083394,AB083395,AB083396,AB083687,AB083688,AB084900,AB084901,AB084902,M14338,AB084904,AB087994,AC117474,AC144562,AY308744,AY605182,CH471052,DQ453481,DQ453483,DQ453484,M36564,M57853,S81775,S81777,AI139337,AK292994,AK303895,BC015801,BE677834,BU688598,DB275740,M15036,X12892,Y00692,AB084903,DQ902690 NP_000304,BAC54134,BAC54135,BAC54137,BAC54138,BAC54139,BAC54140,BAC54141,BAC54142,BAC54143,BAC54144,BAC21163,BAC21164,BAC54253,BAC54254,BAC54255,Q8IXD5,Q8J010,Q8J011,Q9NSD0,AAA60181,ABM83315,ABM86528,BAC54256,BAC54257,BAC55115,AAP45054,AAT37717,EAW79903,EAW79904,EAW79905,ABD96173,ABD96174,ABD96175,AAA60180,AAA60357,AAD14374,AAD14375,BAF85683,BAG64828,AAH15801,AAA36479,CAA31383,CAA68687,CAA68688,P07225,Q06F35,Q16441,Q16519,Q1W146,Q1W147,Q1W148,Q6J1N0,Q7KYZ1,Q86Z10,Q8IU87,Q8IVH1,Q8IXC3,Q8IXC4,Q8IXC5,Q8IXC6,Q8IXC8,Q8IXC9,Q8IXD0,Q8IXD1,Q8IXD2,Q8IXD4,ABI93128,Q06F34 Hs.64016 PROS|PS21|PS22|PS23|PS24|PS25|PSA OTTHUMP00000197146|protein Sa|vitamin K-dependent plasma protein S|vitamin K-dependent protein S protein-coding 1319041 PROSC proline synthetase co-transcribed homolog (bacterial) 1580863 10496079,11256614,16344560,15489334,14702039,12477932,11230166,8889548 11212 AB018566,AC138356,CH471080,AI355650,AK021923,AK291135,AL136616,AW028116,BC012334,BM984988,CR533532,DA086552,NM_007198 NP_009129,BAA36842,EAW63360,EAW63361,EAW63362,EAW63363,EAW63364,BAG51058,BAF83824,CAB66551,AAH12334,CAG38563,O94903,ACE87236,ACE86554 Hs.304792,Hs.608177 FLJ11861 proline synthase co-transcribed bacterial homolog protein|proline synthetase co-transcribed (bacterial homolog)|proline synthetase co-transcribed bacterial homolog protein protein-coding 1353474 PROSP protein S pseudogene (beta) 2148112,2148111 5628 NG_001179,AC139337,M36565 PROS2 pseudo 1315763 PROX1 prospero homeobox 1 1580863 20571754,15604093,19264593,19339011,19706680,19825936,19901262,19940551,20064070,20081858,20084020,20185807,20419449,20490451,20211142,20889853,11789987,11850194,19210544,19160541,18948102,18815287,18580962,18564921,18455124,18400094,17761831,17533110,17415710,17217617,17069925,17062673,16525637,16488887,16308102,15232737,15205472,15143342,12874782,12692551,12477932,12412020,12198161,12060670,11943779,11719431,10080188,8812486,11069920,20453716,20975337,20351309 5629 NM_002763,AC011700,AL606537,CH471100,AK298182,BC024201,U44060 NP_002754,CAI15309,EAW93359,EAW93360,BAG60453,AAH24201,AAC50656,Q92786,ABZ92390 Hs.585369 OTTHUMP00000035023|OTTHUMP00000216821|PROX-1|homeobox prospero-like protein PROX1|prospero homeobox protein 1|prospero-related homeobox 1 protein-coding 1606668 PROX2 prospero homeobox 2 14702039,12477932 283571 AC006530,AK094068,BC105720,BC105721,BC105927,NM_001080408 NP_001073877,AAD30180,BAC04278,AAI05721,AAI05928,Q3B8N5,Q9Y6T0 Hs.675293 FLJ36749 PROX-2|homeobox prospero-like protein PROX2|prospero homeobox protein 2 protein-coding 1318570 PROZ protein Z, vitamin K-dependent plasma glycoprotein 1358564,1580691,1580692,1580693,1580720,1580863 20427285,12970515,12623836,12490280,12477932,12297123,11858503,11289354,9578570,6707212,2511201,2403355,2244898,2129367,2040612,1872862,14507116,19188667,19185907,19132212,19124455,19050305,19026439,18828054,18677630,18378283,18246466,18180611,18177644,18000618,17958743,17903294,17701666,17456189,17403098,17048007,16807661,16191090,16155788,16120837,15879328,15841316,15748239,15626740,15489334,15314579,14671240,14652653,20416992,19913121,20628086,19572077,19578796,19729601,19796528,20024489,20076855,20180321 1358564,1580691,1580692,1580693,1580720 8858 NM_003891,AB033749,AF440358,AL137002,CH471085,EF445049,BC074906,BC074907,M55670,M55671,M59303 NP_003882,BAA85763,BAA85764,AAL27631,CAI41388,CAI41389,EAX09186,EAX09187,EAX09188,ACA06105,AAH74906,AAH74907,AAA36500,AAA36501,AAA36499,P22891 Hs.1011 PZ vitamin K-dependent protein Z protein-coding 1353539 PRP19P PRP19 homolog (S. cerevisiae) pseudogene 399695 731692 PRPF18 PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq] 1580863 16385451,20379614,9000057,16344560,15489334,12477932,11823439,8436300 8559 NM_003675,AL157392,CH471072,AF087997,AI580379,AK314814,AU142253,BC000794,BC002572,CR606297,U51990 NP_003666,CAI13123,CAI13125,CAI13126,EAW86280,EAW86281,EAW86282,EAW86283,BAG37337,AAH00794,AAB41490,Q5T9P7,Q5T9P8,Q99633 Hs.161181 FLJ10210|PRP18|hPrp18 PRP18 homolog|PRP18 pre-mRNA processing factor 18 homolog(PRPF18)|potassium channel regulatory factor|pre-mRNA-splicing factor 18 protein-coding 1353674 PRPF19 PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM] 737633,1302471,1580863 17353931,11435423,18263876,17283042,17276391,16388800,16332694,16223718,16189514,15660529,15635413,15489334,15175653,12960389,12477932,12429849,11991638,11790298,11082287,10404385,19188445,11101529,19641227,20176811,20416268 737633,1302471 27339 AL555169,NM_014502,AP000777,AP003721,CH471076,AJ131186,AW673738,BC008719,BC018665,BC018698,CR617688 NP_055317,EAW73904,EAW73905,CAB51857,AAH08719,AAH18665,AAH18698,Q9UMS4,ABM83929,ABM87248 Hs.502705 NMP200|PRP19|PSO4|SNEV|UBOX4|hPSO4 PRP19/PSO4 homolog|nuclear matrix protein 200|nuclear matrix protein NMP200 related to splicing factor PRP19|pre-mRNA-processing factor 19|prp19/pso4 homolog (s. cerevisiae)|senescence evasion factor protein-coding 1321525 PRPF3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq] 1599535 18029348,20801516,17517693,17081983,16565220,15635413,15541726,15489334,15452143,15085354,12875835,12714658,12477932,12456665,12374753,11971898,11823439,11773002,10713041,9600251,9521884,9404889,9373149,8842740,8125298,15257298,15314151,17643375,19615732,20309403,9328476,16189514,17353931,18553058,18395097,18211889,18026141,17932117 1599535 9129 NM_004698,NG_008245,AL611942,CH471121,AF001947,AF016370,AK222825,AK297139,AK297265,AK299980,AK309330,AK310241,AK311653,AK312891,BC000184,BC001954,BQ002848,CR597102,CR597989,DC407158 NP_004689,CAH70312,EAW53556,AAC09069,AAC51926,BAD96545,BAG59640,BAG59740,BAG61801,BAG35738,AAH00184,AAH01954,O43395,Q53GV6,ABM83779,ABM87099 Hs.11776 HPRP3|HPRP3P|PRP3|Prp3p|RP18 U4/U6 small nuclear ribonucleoprotein Prp3|U4/U6 snRNP 90 kDa protein|U4/U6-associated RNA splicing factor|pre-mRNA-splicing factor 3|prp3 pre-mrna processing factor 3 homolog (yeast) protein-coding 1314103 PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs. 1580863 19668339,15057824,14702039,14507862,12923864,12747765,12714658,12477932,12444105,11545739,11256614,11230166,8808602,8004108,1154573,14499622,8889548,20801516,20939871,11867543,19506198,19373678,19096719,18640990,18552984,18431455,18317597,18177735,17895420,17412961,17325180,17295140,17003455,16917484,16636657,16427773,16381901,16139010,15924690,15659613,15489336,15489334,15257298,15162096,15146197,11076863,15960975,17643375,19293337,19578015,19615732,20118938 26121 NM_015629,NG_009759,AC012314,CH471135,DQ374434,AF308303,AK098547,AK301709,AL050369,AY040822,BC117389,CB854773,CN306666 NP_056444,EAW72190,EAW72191,ABD37635,AAG48270,BAC05329,BAG63180,CAB43677,AAK77986,AAI17390,Q2EKB9,Q8WWY3,CAL37744,ADR83023 Hs.515598 DKFZp566J153|NY-BR-99|PRP31|RP11 OTTHUMP00000068808|U4/U6 small nuclear ribonucleoprotein Prp31|U4/U6 snRNP 61 kDa protein|hPrp31|pre-mRNA-processing factor 31|protein 61K|prp31 pre-mrna processing factor 31 homolog (yeast)|serologically defined breast cancer antigen NY-BR-99 protein-coding 1602851 PRPF38A PRP38 pre-mRNA processing factor 38 (yeast) domain containing A 16344560,15302935,14702039,12477932,16169070 84950 NM_032864,AL138849,AL513218,CH471059,AK027842,AK092038,AK315621,BC000777,BC063655,BC105004,BC105006,BE465896,BF223635,BU508261,CR607179,DA055001 NP_116253,CAI12289,EAX06782,BAB55405,BAC03796,BAG37989,AAH00777,AAH63655,AAI05005,AAI05007,Q8NAV1 Hs.5301 FLJ14936|MGC3320|Prp38|RP5-965L7.1 pre-mRNA-splicing factor 38A protein-coding 1605670 PRPF38B PRP38 pre-mRNA processing factor 38 (yeast) domain containing B 16083285,15342556,15324660,15302935,14702039,12601173,12477932,16344560,19615732 55119 AL591719,CH471122,AK001192,AL833950,AY211915,BC007757,BC009453,BC016296,BC024275,BC034581,BC040127,BC053838,BC107801,BC130346,BC132963,BC144243,BP198449,CR600202,CR613459,AL160171,NM_018061,DA372902,NR_037185 CAI12934,CAI12933,CAH72068,CAH72069,CAH72070,EAW56327,EAW56328,BAA91546,CAH10702,AAO65168,AAH07757,AAH16296,AAH24275,AAH34581,AAH40127,AAH53838,AAI07802,AAI30347,AAI32964,Q5VTL8,Q69YH0,NP_060531,CAI12932 Hs.342307 FLJ10330|MGC163218|MGC41809|NET1|RP11-293A10.1 OTTHUMP00000012661|pre-mRNA-splicing factor 38B|sarcoma antigen NY-SAR-27 protein-coding 1318626 PRPF39 PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) 1580863 15489334,16344560,14702039,12477932,18029348 55015 NM_017922,AL121809,CH471078,AA290697,AI476677,AK000673,AK001990,AK127382,AK307530,AK308415,AL599626,BC020655,BC028683,BC051886,BC125126,BC125127,DB339898,DC306976 NP_060392,EAW65786,EAW65787,EAW65788,BAA91318,BAA92024,AAH20655,AAH51886,AAI25127,AAI25128,Q05CV8,Q86UA1,Q9NWR1 Hs.274337 FLJ11128|FLJ20666|FLJ45460|MGC149842|MGC149843 PRP39 homolog|pre-mRNA-processing factor 39|prp39 pre-mrna processing factor 39 homolog (yeast) protein-coding 1322687 PRPF4 PRP4 pre-mRNA processing factor 4 homolog (yeast) The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. PRPF4 is 1 of several proteins that associate with U4 and U6 snRNPs.[supplied by OMIM] 1580863 15257298,17643375,18029348,19615732,9570313,9373149,9257651,9000057,8125298,11418604,16169070,15452143,9404889,9328476,12226669,18687998,17998396,17513757,16723661,15761153,15635413,15489334,12907720,12875835,12477932,11971898,9521884 9128 NM_004697,AF001687,AL449305,CH471090,AB209797,AF016369,AK225056,AK313131,AY572489,BC001588,BC007424,CR457105,CR590713,CR603092,U82756 NP_004688,AAB87640,CAI10968,CAI10969,EAW87362,EAW87363,BAD93034,AAC51925,BAG35951,AAS78572,AAH01588,AAH07424,CAG33386,AAC02261,O43172,Q59EL4,Q5T1M7,Q6IAP9,ABW03782,ABW03474 Hs.530284 HPRP4|HPRP4P|PRP4|Prp4p PRP4 homolog|PRP4/STK/WD splicing factor|U4/U6 small nuclear ribonucleoprotein Prp4|U4/U6 snRNP 60 kDa protein|WD splicing factor Prp4 protein-coding 1322844 PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 15383276,17353931,17081983,17065151,16391387,15815621,15489334,15456888,15302935,14702039,12964049,12477932,12460579,12381297,11042152,10508479,9724750,9700202,8605874,11604498,9171351,16169070,10744724,15324660,20829478,14603323,11741599,14618241,15231748,16713569 55660 AC012443,AC079344,AF049523,AF049524,AF049528,AF151059,AF155096,AK000592,AK021621,AK024810,AK298547,AK315187,BC000273,BC011788,BC027178,BC029414,BC073138,BU753487,EG328171,U70667,NM_017892 O75400,Q05C41,Q4ZG51,NP_060362,AAX88960,AAC27501,AAC27502,AAC27506,AAF36145,AAD42862,BAA91277,BAB15016,BAG60744,BAG37627,AAH11788,AAH27178,AAH29414,AAB93495 Hs.643580 FBP-11|FBP11|FLAF1|FLJ20585|FNBP3|HIP-10|HIP10|HYPA|NY-REN-6|Prp40 Fas-ligand associated factor 1|Huntingtin-interacting protein A|NY-REN-6 antigen|OTTHUMP00000204906|fas ligand-associated factor 1|formin binding protein 3|formin-binding protein 11|formin-binding protein 3|huntingtin yeast partner A|huntingtin-interacting protein 10|pre-mRNA-processing factor 40 homolog A|renal carcinoma antigen NY-REN-6 protein-coding 1604375 PRPF40B PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 14618241,12477932,9700202 25766 NM_012272,NM_001031698,AC020612,CH471111,AF049525,AK027117,AK123353,AL137459,AL834216,BC031917,BC050398,BC067364 NP_036404,NP_001026868,EAW58084,EAW58085,AAC27503,BAB15662,CAB70747,CAD38898,AAH50398,AAH67364,Q6NWY9 Hs.706827 HYPC Huntingtin interacting protein C|huntingtin yeast partner C|huntingtin-interacting protein C|pre-mRNA-processing factor 40 homolog B protein-coding 1317177 PRPF4B PRP4 pre-mRNA processing factor 4 homolog B (yeast) Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq] 1580863 15452250,16169070,17513757,17620599,9102632,17081983,16964243,16565220,15951569,15592455,15302935,15146197,12477932,12077342,11991638,11418604,10799319,9628581,8274451,17353931,18029348,15324660,19615732,19710015,19902070,20118938 8899 NM_003913,AL033383,AL138831,CH471087,AB011108,AF283465,AK291244,AK303047,AY029347,BC009844,BC034969,CN314758,CN314761,U48736,Z25435 NP_003904,CAI42121,CAI20480,EAW55146,EAW55147,EAW55148,EAW55149,EAW55150,EAW55151,BAA25462,AAM19101,BAF83933,BAG64167,AAK38155,AAH09844,AAH34969,AAB03268,CAA80922,Q13523,Q15456 Hs.159014 KIAA0536|PR4H|PRP4|PRP4H|PRP4K|dJ1013A10.1 PRP4 kinase|PRP4 pre-mRNA-processing factor 4 homolog|dJ1013A10.1 (PRP4 protein kinase homolog)|protein-serine/threonine kinase|serine/threonine-protein kinase PRP4 homolog protein-coding 1316097 PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq] 10788320,16414017,12620389,16341228,17353931,15840814,15489334,15342556,15161931,14702039,12943705,12477932,12039962,11991638,11780052,10848612,10561546,9373149,8125298,15146077,20696395,12226669,15257298,17643375,18278469,19615732,20118938,20237496 24148 AL118506,AL355803,AL356790,CH471077,CQ834642,AB019219,AF026031,AF221842,AK001554,NM_012469,AK225993,AK314310,AL137320,BC001666,BI562505,BP366197 NP_036601,CAI21906,CAC16610,CAH71582,EAW75174,EAW75175,EAW75176,EAW75177,EAW75178,EAW75179,CAH05536,BAA37140,AAD01798,AAF66128,BAG50938,BAG36962,CAB70695,AAH01666,O94906 Hs.31334 ANT-1|C20orf14|Prp6|TOM|U5-102K|hPrp6 PRP6 homolog|U5 snRNP-associated 102 kDa protein|U5-102 kDa protein|androgen receptor N-terminal domain transactivating protein-1|chromosome 20 open reading frame 14|p102 U5 small nuclear ribonucleoprotein particle-binding protein|pre-mRNA-processing factor 6|putative mitochondrial outer membrane protein import receptor protein-coding 1313510 PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq] 1599210 19913121,20628086,20696395,20705733,9774689,17353931,12226669,19096719,18843295,18695108,17317632,17061239,16344560,15840809,15786732,15489334,12840015,12714658,12601059,12477932,11971955,11910553,11468273,11006293,10983979,10828595,10809668,10411133,10024169,9373149,9303319,8702566,8608445,8571961,8125298,7951236,7573060,7489518,2532307,2527369,2479028,2139226,15146077,20801516,20232351,12054535,15034300,15346200,17643375,18425143,19615732 1599210 10594 BC064370,BX649099,CD698473,CR605208,CR624543,DB081408,NG_009118,AC130343,CH471108,AB007510,AF092565,AK058034,AK126169,AK222905,AK296344,AY486134,AY486135,BC000579,BC034545,NM_006445 AAH64370,Q53GM6,Q6JH02,Q6JH03,Q6P2Q9,NP_006436,EAW90588,EAW90589,EAW90590,EAW90591,EAW90592,EAW90593,EAW90594,BAA22563,AAC61776,BAD96625,BAG59028,AAS64747,AAS64748 Hs.181368 HPRP8|PRP8|PRPC8|RP13 220 kDa U5 snRNP-specific protein|PRP8 homolog|U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p|apoptosis-regulated protein 1|apoptosis-regulated protein 2|p220|pre-mRNA-processing-splicing factor 8|precursor mRNA processing protein|prp8 pre-mrna processing factor 8 homolog (yeast)|splicing factor Prp8 protein-coding 733911 PRPH peripherin This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq] 1580863 1378416,18709437,18528283,18408015,18287500,17851265,17569669,16787413,16189514,15489334,15322088,14702039,14675609,12477932,12403814,12358815,12223549,11835375,10728817,9453548,9414188,9085149,8381395,7976309,7806235,7622044,1986862,20533992,10681511 5630 NG_008354,AC125611,CH471111,CQ772262,L14565,AA460760,AK125587,BC032703,BF448012,CR591176,CR596536,CR598826,CR605251,CR605475,CR609048,CR609614,CR610243,CR615736,CR620795,CR624218,CR624274,NM_006262 P41219,ABM84284,ABM87676,NP_006253,EAW58060,EAW58061,CAF33862,AAA60190,BAG54218,AAH32703 Hs.37044 NEF4|PRPH1 neurofilament 4 (57kD)|peripherin|peripherin 1 protein-coding 735709 PRPH2 peripherin 2 (retinal degeneration, slow) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq] 1580863 19506198,19921174,19958124,1749427,19262438,19243827,19038374,18328765,18050133,17698758,17671712,17653047,17504850,17362467,17249552,17148040,17031298,16885924,16832026,16767206,16340530,16019073,15591062,15370544,14557183,14557182,12902384,12882809,12724643,12608515,20801516,12477932,12019563,11934323,11739647,11641407,11485765,10681511,10627133,10426285,9885962,9443872,9338584,8956033,8485576,8485574,8449524,8020945,8019570,7862413,7519821,7493155,2918924,1992463,1684223,1679750,1539599,1427912,12566026,20335603 5961 NM_000322,NG_009176,AL049843,CH471081,S73627,U07149,BC074720,M62958,M73531 NP_000313,CAB75420,EAX04098,AAB31191,AAA16958,AAH74720,AAA60260,P23942,Q16228 Hs.654489 AOFMD|AVMD|CACD2|DS|PRPH|RDS|RP7|TSPAN22|rd2 peripherin 2|peripherin 2, homolog of mouse|peripherin, photoreceptor type|peripherin-2|retinal degeneration slow protein|retinal peripherin|tetraspanin-22|tspan-22 protein-coding 736625 PRPS1 phosphoribosyl pyrophosphate synthetase 1 This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. [provided by RefSeq] 1300048,1599725 20544509,8702702,8125298,7593598,2155397,1962753,1650777,1314091,20021999,20380929,8882866,16939420,4328836,17701900,12847698,17701896,8253776,19161981,18409517,16682768,16236267,16189514,15955956,15943588,15489334,12477932,10066814,9373149,9366267 1599725 5631 NG_008407,AL137787,AL772400,CH471120,D28133,AK223169,AK297968,AK307748,AK312706,AK316467,BC001605,CR606516,CR622039,D00860,X15331,NM_002764 NP_002755,CAI42172,CAI42173,CAI42174,CAI41097,CAI41098,CAI41099,EAX02709,EAX02710,EAX02711,BAA05675,BAD96889,BAG60278,BAG35584,BAH14838,AAH01605,BAA00733,CAA33386,P60891,Q15244,ABM86759,Q53FW2,ABW03813 Hs.56 ARTS|CMTX5|DFN2|DFNX1|KIAA0967|PPRibP|PRSI OTTHUMP00000023809|PRS-I|dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)|phosphoribosyl pyrophosphate synthase I|ribose-phosphate diphosphokinase 1|ribose-phosphate pyrophosphokinase 1 protein-coding 1314887 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq] 2168892,12477932,11181995,1314091 221823 NM_175886,AC080080,CH236948,CH471073,BC005309,BC062797,M57423 NP_787082,EAW93700,AAH62797,AAB59463,P21108 Hs.169284 PRPS1|PRPS3|PRPSL|PRS-III OTTHUMP00000202305|PRPS1-like 1|phosphoribosyl pyrophosphate synthase 1-like 1|phosphoribosyl pyrophosphate synthase III|phosphoribosylpyrophosphate synthetase subunit III|ribose-phosphate diphosphokinase catalytic chain III|ribose-phosphate pyrophosphokinase 3|ribose-phosphate pyrophosphokinase III protein-coding 1342492 PRPS1L2 phosphoribosyl pyrophosphate synthetase 1-like 2 1962753,2536962,1962753,2536962 5633,100421295 AL445930,NG_023956 PRPS1L2 pseudo 737326 PRPS2 phosphoribosyl pyrophosphate synthetase 2 1580863,1300048 16344560,8889548,2538352,18677108,18409517,15489334,12477932,9366267,7572345,2560337,2537655,2536962,1962753,1602151,1314091 5634 BU675363,DA478574,NG_016717,NM_001039091,NM_002765,AC005859,CH471074,D28134,AK310332,AK313246,BC030019,BC040483,BC110875,BC119662,BC119663,CR988262,Y00971 NP_001034180,NP_002756,EAW98805,EAW98806,BAA05676,BAG36057,AAH30019,AAH40483,AAI10876,AAI19663,AAI19664,CAA68785,P11908 Hs.654581 PRSII OTTHUMP00000214965|PPRibP synthetase|PRS-II|phosphoribosyl pyrophosphate synthase II|ribose-phosphate diphosphokinase 2|ribose-phosphate pyrophosphokinase 2 protein-coding 733778 PRPSAP1 phosphoribosyl pyrophosphate synthetase-associated protein 1 1580863 16169070,19447967,8132556,17353931,8611620,16344560,16189514,15489334,12477932,9366267,8660991,7572345,17207965 5635 NM_002766,AC090699,CH471099,AI289298,AK131332,AK298171,AK312637,BC009012,CR607259,CR609147,D61391,DB031565 NP_002757,EAW89386,EAW89387,BAG60443,BAG35521,AAH09012,BAA09612,Q14558,ADQ32753 Hs.77498 PAP39 39 kDa phosphoribosypyrophosphate synthase-associated protein|OTTHUMP00000208978|PRPP synthase-associated protein 1|phosphoribosyl pyrophosphate synthase-associated protein 1 protein-coding 732905 PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 The enzyme phosphoribosylpyrophosphate synthetase (PRS) catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. [provided by RefSeq] 1580863 9545573,17081983,15489334,12477932,9806849,16169070,20686608 5636 BC101672,BC106050,BC143475,BX648850,CR457082,AC090286,AC107982,CH471276,AB007851,AK126398,AK303911,AK304544,AK313087,AL535304,BC101670,NM_002767 AAI01671,AAI01673,AAI06051,AAI43476,CAG33363,O60256,Q6ZTP6,NP_002758,EAW50432,EAW50433,EAW50434,EAW50435,EAW50436,EAW50437,EAW50438,BAA25435,BAC86540,BAG64840,BAG65341,BAG35912 Hs.632236 MGC117304|MGC126719|MGC126721|PAP41 41 kDa phosphoribosypyrophosphate synthetase-associated protein|OTTHUMP00000065716|OTTHUMP00000065717|OTTHUMP00000065718|OTTHUMP00000065720|OTTHUMP00000065721|OTTHUMP00000065724|PRPP synthase-associated protein 2|phosphoribosyl pyrophosphate synthase-associated protein 2 protein-coding 1353000 PRR1 proline rich 1 (prostatic) 1300407 1300407 5637 1601861 PRR11 proline rich 11 17672918,17081983,15489334,14702039,12477932,11799066,9373149,8125298,16344560,17207965 55771 NM_018304,AC099850,CH471109,AK000296,AK001891,AK225377,AK225380,AL711011,BC008669,CR608470,CR625874,AW957315,DA649803,DB106349,FJ161961 NP_060774,EAW94416,EAW94417,EAW94418,BAA91064,BAA91964,AAH08669,Q96HE9,ADQ32320,ACL14948 Hs.631750 FLJ11029 proline-rich protein 11|transcription repressor of MHCII protein-coding 1320487 PRR12 proline rich 12 17081983,15489334,12477932,10737800,10574462,8889548 57479 NM_020719,AC010619,AC011495,AB033031,BC034003,BF805116,BF933932,BM684867,BM723432,CR593436 NP_065770,BAA86519,AAH34003,Q9ULL5 Hs.590971 KIAA1205 proline-rich protein 12 protein-coding 1604010 PRR13 proline rich 13 19435835,17207965,16847352,16189514,15489334,15146197,12477932,11230166,11042152,16169070 54458 NM_001005354,AC068889,AL122042,CH471054,AF217517,AK074398,BC001464,BC004512,BC014257,BC016064,BC021019,BC062322,BC066943,BC071979,BK005847,BX640962,CN392914,CR533459,CR592789,CR593035,CR601035,CR601405,CR603166,CR608819,CR619133,NM_018457,CR626600,CR626698 NP_060927,NP_001005354,EAW96702,EAW96703,EAW96704,EAW96705,AAF67628,AAH14257,AAH16064,AAH66943,DAA05782,CAE45980,CAG38490,Q9NZ81,ADQ32956 Hs.727538 DKFZp564J157|FLJ23818|TXR1 proline-rich protein 13|taxane-resistance protein protein-coding 1604599 PRR14 proline rich 14 16189514,12477932 78994 HI574218,CR602017,CR611316,CR624418,CR936781,AC093249,CH471192,CQ783670,AK074783,AK125716,BC000119,BC010232,BC011573,BC021934,BC050677,NM_024031 CBX47598,AAH50677,Q96D88,Q9BWN1,ABM83770,ABM87089,NP_076936,EAW52221,EAW52222,EAW52223,EAW52224,EAW52225,EAW52226,EAW52227,CAF86803,BAC11207,AAH00119,AAH10232,AAH21934 Hs.293629 DKFZp781A13198|MGC3121 proline-rich protein 14 protein-coding 1603877 PRR15 proline rich 15 15489334,17207965,12690205,12477932,21061267 222171 NM_175887,AC007255,CH236948,CH471073,BC018144,BC029131,CR604389,CR608739,CR610203,CR619478,FJ857942 NP_787083,EAL24204,EAW93920,AAH29131,ACQ82722,Q8IV56,ADQ32860 Hs.91109 OTTHUMP00000202286|proline-rich protein 15 protein-coding 1602486 PRR16 proline rich 16 15971941,12477932,20379614 51334 NM_016644,AC093301,AC104110,AC113418,AC144990,AF242769,BC038838,BC092474 NP_057728,AAF65446,AAH38838,AAH92474,Q569H4 Hs.727785 DSC54|MGC104614 OTTHUMP00000159145|mesenchymal stem cell protein DSC54|proline-rich protein 16 protein-coding 1601804 PRR18 proline rich region 18 12477932 285800 NM_175922,AL121956,CH471051,BC034775 NP_787118,EAW47536,AAH34775,Q8N4B5 Hs.119062 MGC35308 hypothetical protein mgc35308|proline rich region 18|proline-rich protein 18 protein-coding 1604489 PRR19 proline rich 19 12477932,16341674 284338 NM_199285,AC006486,CH471126,AI208291,AK124116,AK291528,AW451766,BC063021,BM762502 NP_954979,EAW57127,BAG54010,BAF84217,AAH63021,A6NJB7 Hs.585901 MGC70924 proline-rich protein 19 protein-coding 1603591 PRR20 proline rich 20 This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq] 14702039,12477932,20662561,15057823 122183 NM_198441,AL353652,AK097615,BC120931,BC120932 NP_940843,AAI20932,AAI20933,P86496 Hs.525056 FLJ40296|MGC149404|MGC149405|PRR20 proline rich 20|proline-rich protein 20|proline-rich protein 20A protein-coding 3322145 PRR20B proline rich 20B This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq] 15057823 729233 AK097615,AL353652,BC120931,BC120932,NM_001130404 AAI20932,AAI20933,NP_001123876,P86481 Hs.525056,Hs.723090 FLJ40296 protein family member|proline-rich protein 20B protein-coding 3322138 PRR20C proline rich 20C This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq] 15057823 729240 AK097615,AL353652,BC120931,BC120932,NM_001130405 AAI20932,AAI20933,NP_001123877,P86479 Hs.525056 FLJ40296 protein family member|proline-rich protein 20C protein-coding 3322131 PRR20D proline rich 20D This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq] 15057823 729246 AK097615,AL353652,BC120931,BC120932,NM_001130406 AAI20932,AAI20933,NP_001123878,P86480 Hs.525056 FLJ40296 protein family member|proline-rich protein 20D protein-coding 3322124 PRR20E proline rich 20E This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq] 15057823 729250 AK097615,AL353652,BC120931,BC120932,NM_001130407 AAI20932,AAI20933,NP_001123879,P86478 Hs.525056 FLJ40296 protein family member|proline-rich protein 20E protein-coding 2306723 PRR21 proline rich 21 643905 NM_001080835,AC013469,AF453950 NP_001074304,AAL41025,Q8WXC7 Hs.693479 OTTHUMP00000214274|putative proline-rich protein 21 protein-coding 1602428 PRR22 proline rich 22 15146197,12477932 163154 NM_001134316,AC011499,CH471139,BC008985,BC023278,CN370733 NP_001127788,EAW69147,AAH08985,AAH23278,Q8IZ63,ACT64413 Hs.631838 MGC24975 proline-rich protein 22 protein-coding 2312708 PRR23A proline rich 23A 16641997 729627 NM_001134659,AC130416 NP_001128131,A6NEV1 Hs.121314 UPF0572 protein ENSP00000372650|proline-rich protein 23A|proline-rich protein 23C protein-coding 1605791 PRR23B proline rich 23B 12477932 389151 NM_001013650,AC130416,AK127998,BC137145,BC137146 NP_001013672,BAC87223,AAI37146,AAI37147,Q6ZRT6 Hs.531376 proline-rich protein 23B protein-coding 1602803 PRR23C proline rich 23C 16641997 389152 AK128089,AC069525,NM_001134657 BAC87269,Q6ZRP0,NP_001128129 Hs.531377 FLJ46210 proline-rich protein 23A|proline-rich protein 23C protein-coding 3518440 PRR24 proline rich 24 11181995,12477932 255783 BE896741,BQ708656,CH471126,NR_037675,AC008532,BC022076,BC045749,BC064510,NM_178511 EAW57469,C9JVW0,NP_848606 Hs.721432,Hs.128690 proline-rich protein 24 protein-coding 1343981 PRR3 proline rich 3 1580863 16344560,14574404,12477932,8889548,15146197,19851445,19912639 80742 NM_001077497,NM_025263,AB088095,AB103601,AB202092,AL662800,AL662825,BA000025,BX000357,BX248518,BX927220,CH471081,CR388372,CR847863,AK074531,AK131382,AK298621,AK316586,BC126455,BC126457,BG483577,BU729453,CR594749,CR610145,CR626352,DA636006,U63336,CN258740,CR936927,DR762096 NP_001070965,NP_079539,BAC54926,BAF31261,BAE78610,CAI18153,CAI18155,CAI17833,CAI17834,BAB63326,CAI18559,CAI18560,CAM26013,CAM26014,CAQ09054,CAQ09055,EAX03297,EAX03298,CAQ07869,CAQ07870,CAQ10055,CAQ10056,BAG51966,BAG60800,BAG38174,AAI26456,AAI26458,AAB40147,P79522,Q96QB9 Hs.118354,Hs.651434 CAT56|MGC161733|MGC161735 MHC class I region proline-rich protein CAT56|proline-rich polypeptide 3|proline-rich protein 3 protein-coding 1346469 PRR4 proline rich 4 (lacrimal) Lacrimal proline rich protein is a member of the proline-rich protein family which lacks a conserved repetitive domain. It may have a role in protective functions in the eye. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq] 1580863 7544782,16344560,15526346,15489334,15146197,12665801,12477932,20379614 11272 NM_001098538,NM_007244,AC006518,AC018630,AC134349,CH471094,AF530472,AK292934,AK292991,AK304321,BC058035,BX537839,CN411028,DB229285,DB486049,S79048 NP_001092008,NP_009175,EAW96213,AAM94338,BAF85623,BAF85680,BAG65171,AAH58035,AAB35174,Q16378 Hs.408153 DKFZp779L1763|LPRP|PROL4 lacrimal proline rich protein|lacrimal proline-rich protein|nasopharyngeal carcinoma-associated proline rich 4|nasopharyngeal carcinoma-associated proline-rich protein 4|proline-rich polypeptide 4|proline-rich protein 4 protein-coding 1604351 PRR5 proline rich 5 (renal) This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. Rare read-through transcripts, containing exons from the ARHGAP8 gene which is located immediately downstream, led to the original description of PRR5 and ARHGAP8 as a single gene. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. [provided by RefSeq] 17599906,17461779,15718101,15498874,14702039,12529303,12477932,10591208,8889548,20379614 55615 NM_001017528,NM_001017529,NM_015366,NM_001017530,NM_181333,CH471138,Z93244,Z98743,AF177331,AK000192,AK055848,AK091884,AK291564,BC016921,BK005635,BK005636,BK005637,BK005638,BK005639,CR594267,CR597708,CR598211,CR599270,CR604399,CR605746,CR611486,CR612790,CR613509,CR618913,BI825567,BM682583,NM_001198721,AK056787 NP_001017528,NP_001017529,NP_056181,NP_001017530,NP_851850,EAW73353,EAW73354,EAW73357,CAQ06710,CAQ06711,CAQ06714,CAQ06717,CAQ06718,CAQ06719,CAQ06720,CAQ06721,CAQ09256,CAQ09257,CAQ09260,CAQ09261,CAQ09262,CAQ09263,CAQ09264,AAG17975,BAA90999,BAG51585,BAG52436,BAF84253,AAH16921,DAA05654,DAA05655,DAA05656,DAA05657,DAA05658,P85299,NP_001185650 Hs.102336 FLJ20185|FLJ20185k|PP610|PROTOR-1|PROTOR1 OTTHUMP00000197417|OTTHUMP00000197418|OTTHUMP00000197422|OTTHUMP00000197424|OTTHUMP00000199336|OTTHUMP00000199337|proline rich protein 5|proline-rich protein 5|protein observed with Rictor-1|protor-1 protein-coding 1605618 PRR5L proline rich 5 like 17461779,16344560,14702039,12477932,20877624 79899 DA344861,DA449593,DA458327,DR001466,NM_024841,NM_001160167,NM_001160168,NM_001160169,AC009656,AC087277,CH471064,AK024275,AK026283,AK055042,BC008922,BC125122,BX640959,DA269290 NP_079117,NP_001153639,NP_001153640,NP_001153641,EAW68123,EAW68124,BAB14870,BAG51455,AAH08922,AAI25123,CAE45978,Q6MZQ0 Hs.19987 FLJ14213|FLJ22630|MGC16218|PROTOR2 Protein observed with Rictor-2|proline-rich protein 5-like|protor-2 protein-coding 1345236 PRR7 proline rich 7 (synaptic) 737633 15629447,12477932,17207965,20383146 737633 80758 NM_030567,AC145098,CH471195,CS123545,BC004261,BC021240,BC024233,BC033649,CR611394,CR624103,BE277571,NM_001174101,NM_001174102 NP_085044,EAW84994,EAW84995,EAW84996,CAJ18109,AAH04261,AAH21240,AAH24233,AAH33649,Q8TB68,ACE87111,ACE86436,ADQ32679,NP_001167572,NP_001167573 Hs.534492 MGC10772 OTTHUMP00000223842|OTTHUMP00000223843|OTTHUMP00000223844|proline-rich protein 7|synaptic proline-rich membrane protein protein-coding 1603285 PRR8 proline rich 8 12853948,12690205,12477932 92454 Q96EV2,Q9NSV0,Q75LN9,Q75ML5 NM_053043,AC009403,AC078834,AC092460,CH236954,CH471149,AL137724,BC011923 NP_444271,AAS02026,AAS01989,AAS07551,EAL23911,EAX04539,CAB70894,AAH11923,Q75LN9,Q75ML5,Q96EV2,Q9NSV0 Hs.585001 MGC20460 protein-coding 4143661 PRR9 proline rich 9 574414 AI432195,AL161636,BX100130,CD387786,NM_001195571 CAI19558,NP_001182500,Q5T870 Hs.135098 proline-rich protein 9 protein-coding 1601934 PRRC1 proline-rich coiled-coil 1 16344560,15541471,14702039,12477932 133619 AC010424,CH471062,AJ427339,AJ441110,AJ496322,AJ515158,AJ515428,AJ515429,AK057437,AK090486,AL831963,NM_130809,AL832056,AL832600,AW007860,BC017066,CR625093,DA605419 CAD38605,NP_570721,EAW62402,EAW62403,EAW62404,EAW62405,CAD22113,CAD29585,CAD42881,CAD56470,CAD56438,CAD56439,BAB71487,BAC03467,CAH10384,AAH17066,Q96M27,ACE87351,ACE86667 Hs.483259 FLJ32875 OTTHUMP00000223091|OTTHUMP00000223468|protein PRRC1 protein-coding 1350141 PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 1580863 9256434,16344560,15772651,15489334,12477932,17207965,16712791 5638 NM_000950,NM_001142395,AL356858,CH471141,AF009242,AK312904,BC012608,BC030786,BC041591,BC060833,DA411839,BX097465,CB134819,DA245329,DA417581,NG_016770,NM_001173486,NM_001173489,NM_001173490,DB286340 NP_000941,NP_001135867,CAI40412,EAW59457,EAW59458,AAB67070,BAG35750,AAH30786,AAH60833,O14668,Q8NEK6,NP_001166957,NP_001166960,NP_001166961,ADQ33034 Hs.190341 PRGP1 OTTHUMP00000215928|OTTHUMP00000215931|proline-rich Gla (G-carboxyglutamic acid) polypeptide 1|transmembrane gamma-carboxyglutamic acid protein 1 protein-coding 1313475 PRRG2 proline rich Gla (G-carboxyglutamic acid) 2 1580863 12477932,11171957,11042109,8889548,15203218,9256434,17502622 5639 NM_000951,AC010619,CH471177,AF009243,BC026032,CB851486,CD609900,CR456846 NP_000942,EAW52504,AAB67071,AAH26032,CAG33127,O14669,Q8TAS3 Hs.35101 PRGP2 proline-rich Gla (G-carboxglutamic acid) polypeptide 2|proline-rich Gla (G-carboxyglutamic acid) polypeptide 2|proline-rich Gla protein 2|proline-rich gamma-carboxyglutamic acid protein 2|transmembrane gamma-carboxyglutamic acid protein 2 protein-coding 1343058 PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 1580863 11171957,16303743,14702039,12477932,15203218 79057 NM_024082,AF274854,CH471169,CQ782534,AF326350,AK074574,BC128256,BC128409,CD631899,NG_016589,NR_033262 NP_076987,EAW99407,CAF85816,AAK00955,BAC11069,AAI28257,AAI28410,Q9BZD7 Hs.592236 MGC149510|MGC156177|PRGP3|TMG3 proline-rich Gla protein 3|proline-rich gamma-carboxyglutamic acid protein 3|transmembrane gamma-carboxyglutamic acid protein 3 protein-coding 1346309 PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 737633,1580863 18029348,11171957,15489334,12477932,19772629 737633 79056 NM_024081,AL035400,CH471064,AF326351,BC010052,BC063393 NP_076986,EAW68215,AAK00956,AAH10052,AAH63393,Q9BZD6,ABM83810,ABM87132 Hs.471695 PRGP4|TMG4 proline-rich Gla protein 4|proline-rich gamma-carboxyglutamic acid protein 4|transmembrane gamma-carboxyglutamic acid protein 4 protein-coding 1345386 PRRT1 proline-rich transmembrane protein 1 19143821,19116923,15489334,14702039,14656967,12477932,19851445 80863 NM_030651,AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR753803,CR812478,CR933878,U89336,AF085841,AK054885,AK123424,BC013201,BC063046 NP_085154,CAI17421,CAI17422,CAI18339,CAI18341,CAI41794,CAI41796,CAM26210,CAQ06582,EAX03588,EAX03589,EAX03590,CAQ09555,CAQ10686,CAQ09611,AAB47496,BAB70821,AAH13201,AAH63046,Q99946 Hs.549204,Hs.699821 C6orf31|IFITMD7|NG5 OTTHUMP00000029195|chromosome 6 open reading frame 31|interferon induced transmembrane protein domain containing 7|proline-rich transmembrane protein 1 protein-coding 1602444 PRRT2 proline-rich transmembrane protein 2 16303743,14702039,12477932,9373149,16169070,17207965,8125298 112476 NM_145239,AC009133,CH471238,AK074572,AK092265,AK098379,AK225785,AK292393,AL834185,BC011405,BC053594,BG702892,CR622842,DC332235,H46459 NP_660282,EAW79990,EAW79991,EAW79992,EAW79993,BAC11067,BAC03843,BAF85082,CAD38881,AAH11405,AAH53594,Q7Z6L0,ADQ32535 Hs.655071 DKFZp547J199|FLJ25513|IFITMD1 interferon induced transmembrane protein domain containing 1|proline-rich transmembrane protein 2 protein-coding 1605239 PRRT3 proline-rich transmembrane protein 3 16344560,15489334,15340161,14702039,12975309,12477932 285368 NM_207351,AC018809,CH471055,AK090993,AY358158,BC040508,BC089447,BC111555,DA198780 NP_997234,EAW64044,EAW64045,BAC03564,AAQ88525,AAH40508,AAH89447,AAI11556,Q5FWE3 Hs.598147 FLJ33674|MGC105134|MGC33990 proline-rich transmembrane protein 3 protein-coding 3051273 PRRT4 proline-rich transmembrane protein 4 19913121,20628086,11181995,12477932,12690205,8889548 401399 AC010655,BC063892,BU688038,BX327107,BX355277,CH236947,CH471070,CR591585,CR601604,CR603273,NM_001114726,NM_001174164 C9JH25,EAL24313,EAW83645,EAW83646,EAW83647,EAW83648,NP_001108198,NP_001167635 Hs.381096 OTTHUMP00000212391|OTTHUMP00000212392|OTTHUMP00000212393|proline-rich transmembrane protein 4 protein-coding 1606834 PRRX1 paired related homeobox 1 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq] 20634891,18604245,1509260,18978678,18296734,17234762,16710414,16582099,15489334,12539042,12477932,11463719,11063257,11036080,10737800,10397741,9373149,9334314,8125298,7760827 5396 NM_006902,NM_022716,CH471067,Z97200,AA452918,AA758879,AB451463,AK225968,AV750422,BC074993,BI039001 NP_008833,NP_073207,EAW90882,EAW90883,BAG70277,AAH74993,P54821,ABZ92177 Hs.283416 PHOX1|PMX1|PRX1 PRX-1|homeobox protein PHOX1|paired mesoderm homeo box 1|paired mesoderm homeobox 1 isoform pmx-1b|paired mesoderm homeobox protein 1|paired-related homeobox protein 1 protein-coding 1322947 PRRX2 paired related homeobox 2 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq] 1580863 20634891,11063257,9665387,17964282,16582099,15496970,15489334,12713735,12477932,11893718,20585627 51450 NM_016307,AL590369,CH471090,AF061970,BC014645,U81600 NP_057391,CAI14511,EAW87901,AAF17708,AAH14645,AAB39864,Q99811 Hs.660115 MGC19843|PMX2|PRX2 PRX-2|paired mesoderm homeobox protein 2|paired-like homeodomain protein PRX2|paired-related homeobox protein 2 protein-coding 1343772 PRS Prieto X-linked mental retardation syndrome 1673297,1605216 5640 1349554 PRSM2 protease, metallo, 2 5643 735824 PRSS1 protease, serine, 1 (trypsin 1) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq] 1599960,1599965,1599966,1599961,1599967,1580863,2324899 20676769,17474147,8841182,14718574,19593166,19550412,19454815,19433603,19096130,19077465,18986377,18953248,18946221,18852684,18755888,18702646,18580441,18522894,18511571,18461367,18428024,18272034,18184119,18076731,18063422,17981921,17641559,17613931,17489851,17480209,17087724,17069643,17003641,16954950,16764792,16685108,16534247,16327984,15952740,12021776,11938439,11932257,11866271,11788572,11734061,11719509,11708864,11702203,11549837,11278730,11260229,11073713,11073545,11057674,10930381,10909845,10835640,10512713,10419450,10381903,10204851,9732462,9633818,9402754,9322498,9169621,8910369,8683601,8650574,8340386,6589790,3011602,2598466,2437112,1370825,19654461,19657220,19690177,19801634,19951905,20001681,20198321,20502448,20484960,20452997,15786540,12120220,1763044,15776435,15749231,15725718,15678497,15651064,15342556,15329520,15082592,15017610,14695529,14526128,12939655,12832630,12792776,12765848,12690205,12543931,12529713,12477932,12395893,12360463,12189145,12120234 1599960,1599965,1599966,1599961,1599967,2324899 5644 NM_002769,NG_001333,NG_008307,AC231380,AF314534,AF315309,AF315310,AF315311,AY234116,AY234117,AY234118,AY234119,AY234120,AY234121,AY234122,AY234123,AY254094,AY254095,AY307359,AY307360,CH236959,CH471198,DQ128082,U70137,AA835201,AK312199,BC035777,BC128226,BP321959,DQ778083,M22612,CS423469,AK293375,BP321999,CA948204,CR627200,L36092 Q53ZF3,Q53ZV8,Q53ZX7,Q53ZX8,Q53ZX9,Q7Z445,Q7Z5P3,Q7Z5Y9,Q86W17,Q86W18,Q86W19,Q86W20,Q45KI0,NP_002760,AAG30943,AAG30947,AAG30948,AAG30949,AAP59550,AAO85796,AAO85797,AAO85798,AAO85799,AAO85800,AAO85801,AAO85802,AAP42827,AAP42828,AAP74363,AAP74364,EAL23773,EAW51925,AAZ40216,AAC50728,BAG35132,AAI28227,ABI63347,AAA61231,P07477,CAL49864,AAC80207,BAG56887 Hs.449281 DKFZp779A0837|FLJ57296|MGC120175|MGC149362|TRP1|TRY1|TRY4|TRYP1 OTTHUMP00000213669|OTTHUMP00000213670|beta-trypsin|cationic trypsinogen|digestive zymogen|nonfunctional trypsin 1|pancreatic trypsin 1|serine protease 1|trypsin I|trypsin-1|trypsinogen 1|trypsinogen A protein-coding 733403 PRSS12 protease, serine, 12 (neurotrypsin, motopsin) This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. [provided by RefSeq] 704346,1580863,737771 12477932,12459588,10343120,10103056,9540828,9245503,20332099 704346,737771 8492 CR601629,BG386264,NM_003619,A83630,AC096762,CH471057,AF077298,AJ001531,BC007761,NG_023350 NP_003610,CAB69270,EAX06317,EAX06318,AAD25919,CAA04816,AAH07761,P56730,Q96I80 Hs.445857 BSSP-3|BSSP3|MGC12722|MRT1 brain-specific serine protease 3|leydin|motopsin|neurotrypsin|serine protease 12 protein-coding 1315387 PRSS16 protease, serine, 16 (thymus) This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq] 1580863 10527559,19571809,19295542,17584581,15592422,14702039,14574404,12140752,8812418,19571808 10279 NM_005865,AL021808,CH471081,AA580758,AF052514,AK093590,AK097918,AK098033,AK126160,AK226091,AK303106,AK314037,AY305022,AY305024,AY305025,BG119060 NP_005856,CAB94769,EAX03088,EAX03089,AAC33563,BAG53551,BAG64214,AAP74971,AAP74973,AAP74974,Q7Z5N5,Q7Z5N6,Q7Z5N8,Q9NQE7,AAI56192,AAI56929 Hs.274407 FLJ36271|FLJ40714|FLJ44172|TSSP serine protease 16|thymus specific serine peptidase|thymus-specific serine protease protein-coding 1347326 PRSS2 protease, serine, 2 (trypsin 2) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq] 1580863,2324904,2324899 20625975,19690177,19752771,20517765,12709065,16192646,12731883,19096130,19077465,19052022,18986305,18461367,18428024,18362849,18063422,18062964,17640760,16699518,15952740,15776435,15651064,14695529,12949286,12690205,12477932,11420435,11391623,11355948,11106574,11073713,9822200,9732462,9578462,9261109,8650574,8573092,8478942,3011602,2610933,2598466,1079768,12775419,1763044,20428826,20484960 2324904,2324899 5645 L36092,BC103998,NM_002770,NG_001333,NG_008322,AF009664,CH236959,CH471198,AY052784,BC005814,BC030260,BC103997,BC107784,DQ846872,DQ846873,M27602 AAC80209,AAI03999,Q3SY19,NP_002761,AAC13351,EAL23774,EAW51922,EAW51923,AAL14244,AAH05814,AAI03998,AAI07785,ABI63359,ABI63360,AAA61232,P07478,Q3SY20,Q5NV56,Q6PK75,Q7Z5F3,ABM81970,ABM85149 Hs.449281 MGC111183|MGC120174|MGC120175|TRY2|TRY8|TRYP2 anionic trypsinogen|protease serine 2 preproprotein|protease, serine, 2, preproprotein|serine protease 2|trypsin 2|trypsin II|trypsin-2|trypsinogen 2 protein-coding 1344108 PRSS21 protease, serine, 21 (testisin) This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. It is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and it may be involved in progression of testicular tumors of germ cell origin. Alternative splicing of this gene results in three transcript variants encoding three different isoforms. [provided by RefSeq] 1580863 19571264,20211623,10397266,9826525,16810501,15685234,15489334,12975309,12477932,11004480,10600542,18029348 10942 NM_006799,NM_144957,NM_144956,AC005361,AC092117,AF058301,CH471112,AB031329,AB031330,AB031331,AF058300,AY359034,BC074999,BC075000,CR590593,CR605277 NP_006790,NP_659206,NP_659205,AAF79019,AAF79020,EAW85463,EAW85464,EAW85465,EAW85466,EAW85467,BAA83520,BAA83521,BAA89532,AAD41588,AAQ89393,AAH74999,AAH75000,Q9Y6M0 Hs.72026 ESP-1|ESP1|TEST1|TESTISIN eosinophil serine protease 1|serine protease 21|serine protease from eosinophils|testisin protein-coding 1322033 PRSS22 protease, serine, 22 This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq] 1580863 11602603,16176265,15701722,15616553,15489334,12975309,12477932,17207965 64063 NM_022119,AC003965,CH471112,AB010779,AF321182,AK309624,AW083723,AY358396,BC009726,BQ893064,CR591551,CR608374,CR626637 NP_071402,AAB93671,EAW85456,BAB20263,AAG35070,AAQ88762,AAH09726,Q9GZN4,ADQ32326 Hs.459709 BSSP-4|MGC9599|SP001LA|hBSSP-4 brain-specific serine protease 4|prosemin|protease, serine S1 family member 22|serine protease 22|serine protease 26|tryptase epsilon protein-coding 1346659 PRSS23 protease, serine, 23 This gene encodes a member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels after ovulation was induced. This gene seems to be highly conserved in vertebrates and may be an important ovarian protease. [provided by RefSeq] 1580863 11256614,16870946,16381901,16344560,16303743,16169070,16712791,15489336,15489334,12975309,12878157,11076863,12477932,11230166,20532202 11098 AP000654,CH471076,AF015287,AF193611,AK075362,AK304054,AK304301,AK315562,AL136914,AU279649,AY359033,BC001278,BG286404,CB113923,CR456824,CR591812,CR594839,CR596737,CR596876,CR598694,CR599725,CR602641,CR604686,CR607039,CR607812,CR608853,CR609619,CR612074,CR613177,NM_007173,CR614859,CR615791,CR616418,CR620693,CR622497,CR623760,CR624329,DA910788 NP_009104,EAW75145,EAW75146,AAD01553,AAF07186,BAG52121,BAG64963,BAG65155,BAG37938,CAB66848,AAQ89392,AAH01278,CAG33105,O95084,CAL37410,CAL38408 Hs.25338 MGC5107|SIG13|SPUVE|ZSIG13 putative secreted protein Zsig13|serine protease 23|serine protease, umbilical endothelium protein-coding 1353298 PRSS27 protease, serine 27 Pancreasin is a pancreatic tryptic serine peptidase that cleaves peptides after an arginine residue.[supplied by OMIM] 18948266,15489334,14702039,12975309,12477932,12441343 83886 AY359106,BC034294,NM_031948,AC092117,CH471112,AB056161,AJ306593,AK055576,AK310214,AY030095,BC036912 AAQ89464,AAH34294,NP_114154,EAW85485,EAW85486,BAB85497,CAC35467,BAG51537,AAK38168,Q9BQR3 Hs.332878 CAPH2|MPN channel-activating protease 2|marapsin|pancreasin|serine protease 27 protein-coding 1343422 PRSS29P protease, serine, 29 pseudogene 17947681,15616553 123787 NG_002329,AC120498,AF529082 A6NIE9 ISP2 pseudo 734183 PRSS3 protease, serine, 3 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 20947888,17207965,18711365,19920152,19924134,20484962,6698368,14507909,15313892,8294000,19249338,18665091,18363639,17623652,17406981,16759229,16492676,16412431,16013053,15987713,15855826,12860985,12477932,11827488,11057674,9099703,7498454,2326201 5646 NM_007343,NM_002771,NG_001337,AF029308,AL139113,AL356489,AL358573,CH471071,AB298285,AB298286,AY052783,BC030238,BC069476,BC069494,D45417,X15505,X71345,X72781,NM_001197097,NM_001197098 ADQ32676,NP_031369,NP_002762,AAC13322,CAI39655,CAI39658,CAH69873,CAI39513,CAI39514,CAI39515,EAW58481,EAW58482,EAW58483,EAW58484,BAF80324,BAF80325,AAL14243,AAH30238,AAH69476,AAH69494,BAA08257,CAA33527,CAA50484,CAB58178,P35030,Q6ISJ4,Q7Z5F4,Q8N2U3,NP_001184026,NP_001184027 Hs.654513 MTG|PRSS4|T9|TRY3|TRY4 brain trypsinogen|mesotrypsin|mesotrypsinogen|pancreatic trypsin 2|pancreatic trypsinogen III|protease, serine, 3 (mesotrypsin)|protease, serine, 4 (trypsin 4, brain)|serine protease 3|serine protease 4|trypsin 3|trypsin III|trypsin IV|trypsin-3|trypsinogen 4|trypsinogen 5|trypsinogen IV protein-coding 1323608 PRSS33 protease, serine, 33 12795636,12477932 260429 NM_152891,AC092117,CH471112,AF536382,BC036846,BC062334,CS359990 NP_690851,EAW85469,EAW85470,AAN04055,AAH36846,AAH62334,Q8NF86,CAL31934 Hs.280658 EOS serine protease 33|serine protease EOS protein-coding 1322654 PRSS35 protease, serine, 35 16870946,12975309,12477932,16344560,20511563,20877624 167681 NM_153362,AL121939,CH471051,AK291928,AY358661,BC037170,CR615063,DA251169,NM_001170423 NP_699193,CAC35071,EAW48662,EAW48663,BAF84617,AAQ89024,AAH37170,Q8N3Z0,NP_001163894 Hs.98381 C6orf158|MGC46520|dJ223E3.1 inactive serine protease 35 protein-coding 1604524 PRSS36 protease, serine, 36 15536082,16341674,14702039,8889548,12477932 146547 NM_173502,AC009088,CH471192,CQ783206,AJ627034,AK075142,AK290310,AK297997,AK301409,AW450407,BC137396,BC144615,BM768465,BQ184141,BU598342,CR609135 NP_775773,EAW52153,EAW52154,CAF86411,CAF25303,BAF82999,BAG60303,BAG62942,AAI37397,AAI44616,Q5K4E3 Hs.256632 FLJ90661 polyserase 2|polyserase-2|polyserine protease 2|polyserine protease-2|serine protease 36 protein-coding 2801932 PRSS43 protease, serine, 43 100288960 AC109583,AC134504,CH471055,XM_002342351,XM_003119889,XM_003120408 EAW64785,XP_002342392,XP_003119937,XP_003120456 Hs.657572 TESSP3 protease, serine, 43 protein-coding 3207614 PRSS44 protease, serine, 44 729756 AC109583,CH471055,XM_001131213 EAW64786,XP_001131213 TESSP4 protease, serine, 44 protein-coding 3184187 PRSS46 protease, serine, 46 100287362 AC134504,XM_002342331,XM_003118866,XM_003119890,XM_003119891 XP_002342372,XP_003118914,XP_003119938,XP_003119939 TESSP6 protease, serine, 46 protein-coding 2860194 PRSS53 protease, serine, 53 20953189,12975309,16566820 339105 AC135050,AJ627035,AK131087,NM_001039503 AAI72247,AAI72552,BAC85137,CAF25304,NP_001034592,Q2L4Q9 Hs.569575 FLJ00289|POL3S|UNQ308 EDTP308|polyserase 3|polyserase-3|polyserine protease 3|serine protease 53 protein-coding 3438752 PRSS54 protease, serine, 54 12477932,17521433 221191 AC009107,AK058068,AK302175,AL137484,BC057843,CH471092,NM_001080492 AAH57843,BAB71649,BAG63541,CAB70765,EAW82972,NP_001073961,Q6PEW0 Hs.411239 FLJ25339|KLKBL4 CT67|cancer/testis antigen 67|inactive serine protease 54|plasma kallikrein-like protein 4 protein-coding 1322295 PRSS7 protease, serine, 7 (enterokinase) This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq] 1599212,1580863 19924134,20379614,8052624,18062964,16344560,15489334,12907431,12477932,11913964,11719902,10830953,7718557,4322674,2093478,1147667 1599212 5651 NM_002772,NG_012207,AF246125,AL078474,AL163218,AP000455,AP000456,CH471079,CS223379,Y19124,AI279666,BC111749,BM015908,DB242953,U09860 NP_002763,AAF97778,CAB90392,EAX10016,EAX10017,CAJ46929,CAB65555,AAI11750,AAC50138,P98073,Q9NR95 Hs.149473 ENTK|MGC133046|PRSS7 enterokinase|enteropeptidase|protease, serine, 7 (enterokinase)|serine protease 7|transmembrane protease serine 15 protein-coding 730925 PRSS8 protease, serine, 8 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. The proprotein is cleaved to produce a light chain and a heavy chain which are associated by a disulfide bond. It is active on peptide linkages involving the carboxyl group of lysine or arginine. [provided by RefSeq] 1580863,2292484,2292485,2292487,2292486 15474520,15246975,15231748,12626364,12477932,11756432,11274175,8838796,8034638,19262497,19555470,19847458,19849847,19911255,20078940,20089521,20204133,20696767,10077646,7768952,19388054,19127211,18922802,18583984,18310226,17940283,17532063,17145811,16541421,16103126,16061697,15489334,19606239 2292484,2292485,2292487,2292486 5652 NM_002773,AC009088,CH471192,U33446,AK296656,AK301619,BC001462,CR624569,L41351 NP_002764,EAW52155,EAW52156,AAB19071,BAG59253,BAG63104,AAH01462,AAC41759,Q16651,ABM83086,ABM86280 Hs.75799 CAP1|PROSTASIN channel-activating protease 1|prostasin|protease, serine, 8 (prostasin)|serine protease 8 protein-coding 1342482 PRSSL1 protease, serine-like 1 18029348,12975309,12477932,9533035 400668 NM_214710,AC004156,AC112708,AY358594,BC137161,BC144505 NP_999875,AAQ88957,AAI37162,AAI44506,Q6UWY2 Hs.245146 UNQ782 GLGL782|serine protease 1-like protein 1 protein-coding 1320925 PRTFDC1 phosphoribosyl transferase domain containing 1 17207965,21054786,17599052,16928426,16189514,14702039,12477932,9373149,8125298 56952 NM_020200,AL157385,AL512598,CH471072,AB209792,AF226056,AK021950,AK222674,AK294130,AK309614,BC008662,CR596757,CR615591,CR617937,CR619546 ADQ31607,NP_064585,CAH70349,CAH70350,CAH70785,CAH70786,EAW86119,EAW86120,EAW86121,BAD93029,AAF86956,BAB13944,BAD96394,BAH11679,AAH08662,Q9NRG1 Hs.405619 FLJ11888|HHGP OTTHUMP00000019332|phosphoribosyltransferase domain-containing protein 1 protein-coding 1606409 PRTG protogenin homolog (Gallus gallus) 12477932,19076634,15922677,14702039 283659 NM_173814,AC009997,AC012378,CH471082,AA912476,AK022857,AK023283,AK098622,AY630258,BC073967 NP_776175,EAW77493,EAW77494,BAC05355,AAU05741,Q2VWP7,AAI40401 Hs.130957 FLJ12795|FLJ13221|FLJ25756|IGDCC5 immunoglobulin superfamily, DCC subclass, member 5|protein Shen-Dan|protogenin|protogenin homolog (Gallus gallus)|shen-dan protein-coding 1347991 PRTH pituitary resistance to thyroid hormone 5656 1312601 PRTN3 proteinase 3 1580863 16167885,15975933,15916759,15879139,15686586,15489334,15331626,15057824,14675038,14525959,12960243,12894870,12832446,12538645,12506139,12477932,12444202,12393722,12354776,12200377,12191967,12140766,12135665,12114510,12067299,12010574,11867344,11714826,11389039,11115080,10512713,10498622,10339575,9924693,8757293,8738804,8629812,8261669,7654387,3513185,2679910,2501794,2404977,2377228,2285532,2258701,2242436,2121162,2033050,2001463,1688612,10978167,16488976,19447886,19490915,20423453,20592714,20491791,15527767,2598267,18029348,19494315,19185066,18854317,18596726,18076025,18023421,17785293,17712045,17681950,17634439,17534941,17452051,17412886,17244676,17158864,17088257,16792675,16598772,16478888,16263417,1681549,1518849,1400430,19913121,20628086,20530264,20059480,20155833,20412702,20412704,20828556 5657 FN647680,AC004799,AF015449,CH471139,M96628,M96839,BC096183,BC096184,BC096185,BC096186,M29142,M75154,X55668,X56132,NM_002777,X56606 CBI83574,NP_002768,AAD21524,EAW69590,EAW69591,AAB59364,AAB59493,AAH96183,AAH96184,AAH96185,AAH96186,AAA36342,AAA59558,CAA39203,CAA39597,CAA39598,CAA39943,P24158 Hs.928 ACPA|AGP7|C-ANCA|CANCA|MBN|MBT|NP4|P29|PR-3|PR3 C-ANCA antigen|NP-4|Wegener granulomatosis autoantigen|azurophil granule protein 7|leukocyte proteinase 3|myeloblastin|neutrophil proteinase 4|serine proteinase, neutrophil|wegener autoantigen protein-coding 1350944 PRUNE prune homolog (Drosophila) 10602478,18978678,17655525,16428445,15671547,12477932,11687967,10524757,20383146 58497 BC017755,BC025304,BC063481,CR591415,CR614108,U67085,AL590133,CH471121,AF051907,AF123538,AF123539,AK027875,AK294154,AK298273,AK315120,AK316537,AL122054,AL137324,BC014886,NM_021222 AAH25304,AAH63481,AAF04914,Q5SZF2,Q5SZG1,Q86TP1,ABM83745,ABM87064,NP_067045,CAI13338,CAI13339,CAI13340,CAI13341,CAI13342,CAI13343,EAW53485,EAW53486,EAW53487,EAW53488,EAW53489,EAW53490,AAC95290,AAK00592,AAK00593,BAB55423,BAG57478,BAG60534,BAG37575,BAH14908,CAH56396,AAH14886 Hs.78524 DRES-17|DRES17|HTCD37 Drosophila-related expressed sequence 17|hPrune|protein prune homolog protein-coding 1322392 PRUNE2 prune homolog 2 (Drosophila) 737633 15164053,12477932,12168954,11181995,9205841,16288218,19319183,18445682,17961507,17360660,17081983,16344560,16189514,15489334,19668339,19760627,20379614,20800603 737633 158471 NM_015225,AL161626,AL359314,AL390239,CH471089,AB002365,AB050197,AK296269,AK298805,AK299857,AL834213,AY439213,AY439214,BC019095,BC022571,BC150641,BQ008420,DA410068,AB535152 NP_056040,CAI39747,CAI39750,CAI39752,CAI10912,CAI10915,CAI16084,CAX14933,EAW62581,EAW62582,EAW62583,EAW62584,EAW62585,EAW62586,EAW62587,EAW62588,EAW62594,BAA20822,BAD93351,BAG58979,BAG60940,BAG61715,AAR15150,AAR15151,AAH22571,AAI50642,Q5JUB9,Q8WUY3,BAJ08045 Hs.262857 A214N16.3|BMCC1|BNIPXL|C9orf65|DKFZp762K117|FLJ50060|FLJ54876|FLJ59118|KIAA0367|RP11-58J3.2|bA214N16.3 BCH motif-containing molecule at the carboxyl terminal region 1|BNIP2 motif containing molecule at the carboxyl terminal region 1|BNIP2 motif-containing molecule at the C-terminal region 1|protein prune homolog 2 protein-coding 1351983 PRX periaxin This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq] 1580863 11133365,18029348,18504680,17081983,16770524,16534116,15489334,15197604,12477932,12112076,12107413,11835375,11430802,11157804,10997877,10848494,10839370,10671475,9143514,14625392,21079185,17474147,19837996,19950375 57716 NM_020956,NM_181882,NG_007979,AC010271,CH471126,AB046840,AF321191,AF321192,BC067266,CD674402 NP_066007,NP_870998,EAW56962,EAW56963,BAB13446,AAK19279,AAK19280,AAH67266,Q9BXM0 Hs.205457 CMT4F|KIAA1620 periaxin protein-coding 1348546 PRY PTPN13-like, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq] 15489334,15177557,12815422,12477932,11420382,9381176 9081 NM_004676,AC008175,NG_004755,AF000988,AF517635,BC113548,BC113550,BC143893,BC171757 NP_004667,O14603,AAC51835,AAN06674,AAI13549,AAI13551,AAI43894,AAI71757 Hs.158343 PRY1|PRY2|PRYP3|PRYP4|PTPN13LY PTPN13-like protein, Y-linked|PTPN13-like, Y-linked|testis-specific PTP-BL-related Y protein|testis-specific PTP-BL-related protein on Y protein-coding 1349286 PRY2 PTPN13-like, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq] 15489334,15177557,12815422,9381176 442862 NM_001002758,NG_004755,AC007359,CH878735 NP_001002758,EAW61212,O14603,AAI48537,AAI53129 Hs.632847 PRY|PRYP3|PRYP4|PTPN13LY|PTPN13LY2 PTPN13-like protein, Y-linked|PTPN13-like, Y-linked, centromeric|testis-specific PTP-BL-related Y protein|testis-specific PTP-BL-related protein on Y protein-coding 2291812 PRYP1 PTPN13-like, Y-linked pseudogene 1 12815422 442863 NG_004636,AC007742 PRY4P|PRYP7 pseudo 2291811 PRYP2 PTPN13-like, Y-linked pseudogene 2 12815422 442864 NG_004636,AC024183 pseudo 2291810 PRYP3 PTPN13-like, Y-linked pseudogene 3 12815422,15489334,9381176 442865 NG_004755,AC016752 O14603 pseudo 2291809 PRYP4 PTPN13-like, Y-linked pseudogene 4 12815422,17207965 442866 NG_004755,AC007965 O14603,ADR82828 pseudo 4110642 PRYP7 PTPN13-like, Y-linked pseudogene 7 100419333 AC007742,NG_024772 PRY4P pseudo 736284 PSAP prosaposin This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18481277,17961073,17893707,17712477,17561962,17372201,17300216,17171640,17044040,16823039,16713569,16199891,16080200,15897971,15606899,15548330,15489334,15305334,15231748,14716313,14674747,12813057,12518053,12510003,12477932,12083803,11856752,11734895,11313879,11309366,11231313,11180632,1612590,1371116,16169070,14630798,16385451,20132547,20379614,19224915,18761669,10682309,1958198,2717620,1454804,18029348,19581582,19471889,19267410,10562467,10510427,10406958,9751800,9373149,8641138,8554069,8370464,8323276,8125298,7866401,7730378,7613473,6256275,3478817,3442600,3242555,3048308,2868718,2845979,2842863,2825202,2515150,2498298,2320574,2302219,2209618,2066109,2060627,2025281,2019586,2013321,20484222 5660 NM_002778,NM_001042465,NM_001042466,NG_009301,AC073370,AF057307,AF307850,AL731541,CH471083,M86181,X57107,X57108,AB209776,AK057878,AK129790,AK223290,AK293672,AK299184,AK307721,BC001503,BC004275,BC007612,BC091483,BT006849,CR456746,CR591875,CR594967,CR595661,CR596283,CR596748,CR597622,CR597796,CR599745,CR600349,CR601838,CR610120,CR610308,CR611435,CR612207,CR615641,CR616446,CR617297,CR619008,D00422,J03015,J03077,M32221,M60255,M60257,M60258,M81355 NP_002769,NP_001035930,NP_001035931,AAC64921,AAG31635,CAI40836,CAI40837,EAW54436,EAW54437,EAW54438,CAA40391,CAA40392,BAD93013,BAD97010,BAG57116,BAG61229,AAH01503,AAH04275,AAH07612,AAH91483,AAP35495,CAG33027,BAA00321,AAB59494,AAA52560,AAA60303,AAA36594,AAA36595,AAA36596,O75905,P07602,Q53FJ5,Q59EN5,Q5BJH1,ABM83935,ABM87254 Hs.523004 FLJ00245|GLBA|MGC110993|SAP1 OTTHUMP00000019777|proactivator polypeptide|prosaposin|prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)|sphingolipid activator protein-1 protein-coding 1603414 PSAPL1 prosaposin-like 1 15489334,14702039,12477932,9847074 768239 NM_001085382,AC080003,AK097698,BC034552,BC048325,BC063708,BC068579,DQ991252,FJ695208 Q6NUJ1,NP_001078851,BAC05143,AAH68579,ABJ55983 Hs.662523 FLJ40379 proactivator polypeptide-like 1|prosaposin-like protein 1 protein-coding 1607031 PSAT1 phosphoserine aminotransferase 1 The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and Drosophila. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 10637769,18221502,15489334,12633500,12477932,3651428 29968 NM_021154,NG_012165,AL353594,CH471089,AF113132,AK025460,AK295222,AK295310,AY131232,BC000971,BC004863,NM_058179,BC016645,BC018129,BT006840,CR595610,CR604215,CR619649 NP_478059,NP_066977,CAI16882,CAI16883,EAW62617,EAW62618,EAW62619,EAW62620,EAW62621,EAW62622,EAW62623,AAD42052,BAG58215,BAG58289,AAN71736,AAH00971,AAH04863,AAH16645,AAH18129,AAP35486,Q9Y617,ABM85052 Hs.494261,Hs.592595 EPIP|MGC1460|PSA|PSAT endometrial progesterone-induced protein|phosphohydroxythreonine aminotransferase|phosphoserine aminotransferase protein-coding 1345904 PSBP1 prostatic steroid binding protein 1 5661 1321185 PSCA prostate stem cell antigen This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene has a nonsynonymous nucleotide polymorphism at its start codon. [provided by RefSeq] 1580863 17503471,17492652,16957968,16341674,16024997,16015594,15814638,15489334,15340161,14702039,12975309,12496358,12477932,12351697,11980648,11752398,11406532,10973799,10713670,15765097,21064099,21070776,21070779,20501618,9465086,18838214,18488030,18184265,18076024,17853904,17549363,20502058,18440837,19180924,19343734,19462463,19554573,19582881,19648920,19822092,20039280,20043108,20082273,20083643,20085909,20131315,20230293,20374648,20507324,20972438,17207965 8000 NM_005672,NG_011722,AC108002,CH471162,AF043498,AJ297436,AY358912,BC023582,BC048808,BC065183,BM768967,CS448246,AI685668,BI758811,BU157227,CB993163,NR_033343 CAL69804,NP_005663,EAW82312,EAW82313,AAC39607,CAB97347,AAQ89271,AAH23582,AAH65183,O43653,ADQ32138 Hs.652235 PRO232 prostate stem cell antigen protein-coding 731880 PSCD2L pleckstrin homology, Sec7 and coiled/coil domains 3 1580863 9925920 9224 Q15795 U59752 733797 PSD pleckstrin and Sec7 domain containing 18084281,17579087,12477932,9417912,16169070,16385451,19773279 5662 NM_002779,AL121928,CH471066,AB095931,AF452641,BC037332,BC039259,BC142643,BC142689,CR610304,CR611398,CR616163 NP_002770,CAI12516,EAW49693,EAW49694,EAW49695,BAC23107,AAP97695,AAH39259,AAI42644,AAI42690,A5PKW4,Q7Z4R5,Q86YI3 Hs.154658 KIAA2011|PSD1|TYL PH and SEC7 domain-containing protein 1|exchange factor for ARF6|exchange factor for arf6|pleckstrin and Sec7 domain protein|pleckstrin homology and SEC7 domain-containing protein 1 protein-coding 1322340 PSD2 pleckstrin and Sec7 domain containing 2 1580863 16381901,15489336,12477932,11256614,11230166,11076863,17148452 84249 NM_032289,AC008667,CH471062,AL136559,AL834268,BC038233 NP_115665,EAW62088,EAW62089,CAB66494,CAD38943,AAH38233,Q9BQI7,CAL38743 Hs.21963 DKFZp761B0514 6330404E20Rik|PH and SEC7 domain-containing protein 2|pleckstrin homology and SEC7 domain-containing protein 2 protein-coding 1603689 PSD3 pleckstrin and Sec7 domain containing 3 18649358,16344560,16270321,15489334,14702039,12477932,12168954,12097419,10231032,17148452,20080650,20379614,20736409 23362 NM_015310,NM_206909,AL599849,AL832778,BC011238,BC045112,BC075044,BC075045,BX647320,BX647406,DB055312,AC009884,AC087821,AC090420,AC100800,AC120051,CH471080,AB023159,AF243495,AF519767,AK091317,AK296546,AK313826,AK315099,AL353936,GU727648 NP_056125,AAH11238,AAH75044,AAH75045,CAI46004,Q5HYL1,Q7L3Y3,Q9NYI0,ACE87494,ACE87499,ACE86807,ACE86812,NP_996792,EAW63779,EAW63780,EAW63781,EAW63782,EAW63783,BAA76786,AAF61269,AAM74203,BAG52336,BAG59170,BAG36561,ADU87649 Hs.434255 DKFZp761K1423|EFA6R|HCA67 ADP-ribosylation factor guanine nucleotide factor 6|PH and SEC7 domain-containing protein 3|exchange factor for ADP-ribosylation factor guanine nucleotide factor 6|hepatocellular carcinoma-associated antigen 67|pleckstrin homology and SEC7 domain-containing protein 3 protein-coding 1321104 PSD4 pleckstrin and Sec7 domain containing 4 1580863 18084281,15815621,15489334,14702039,12477932,12082148,11050434,8889548 23550 NM_012455,AC016683,CH471217,DQ452296,AA429250,AB208798,AJ459781,AK023421,AK093556,AK094598,AK290045,AK294268,BC035307,BC073151,BM930990,BQ061445,BU947428,CR598168,U63127 NP_036587,AAX88879,EAW73626,EAW73627,EAW73628,ABD96831,BAD92035,CAD30842,BAG51189,BAF82734,BAG57560,AAH35307,AAH73151,AAD00107,Q59HG0,Q8NDX1,ABW03422 Hs.516306 EFA6B|FLJ36237|FLJ37279|TIC ADP-ribosylation factor guanine nucleotide-exchange factor 6|OTTHUMP00000203728|PH and SEC7 domain-containing protein 4|SEC7 homolog|exchange factor for ADP-ribosylation factor guanine nucleotide factor 6B|pleckstrin homology and SEC7 domain-containing protein 4|telomeric of interleukin-1 cluster protein protein-coding 731724 PSEN1 presenilin 1 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq] 1580694,2302204,1331525,1302519,729595,1300048,1302520,1334462,1580863 20534741,20677014,20418378,15210705,15209417,15205973,15192701,15159497,15147205,15123653,15123598,15122701,15119739,15115757,15087467,15004326,15003276,14993906,14769392,14759258,14741365,14717705,14702039,14645205,14625299,14590205,14581682,14576165,14572442,14515347,14504279,14502086,13678586,12960155,12935881,12925374,12901838,12885769,12885573,12850546,12846562,12821663,12817569,12805290,12794186,12752408,12742741,12740439,12686406,12679784,12668610,12660785,12639958,12629514,12609057,12603837,12551931,12535650,12522139,12508121,12495082,12493737,12484344,12477932,12471034,12470641,12460547,12444985,12435726,11504726,11444983,11436125,11389157,11226248,11200686,11168528,11140838,11129109,11110974,11094121,11076969,11030797,11027672,10993067,10899933,10854253,10811883,10635315,10631141,10593990,10587643,10545183,10533070,10521466,10447269,10446169,10441572,10439444,10401002,10369872,10366599,10208590,10208579,10206645,10200054,10092585,10090481,10077672,10069390,10037471,10025789,9915968,9851450,9851443,9833068,9831473,9738936,9719376,9712537,9544835,9521423,9521418,9507958,9485372,9443865,9437013,9436726,9384602,9373149,9298817,9225696,9223106,9173929,9172170,9144240,9073509,9070286,9852041,15037614,15322109,14756819,15448688,15109302,10801777,9223340,10891589,9632714,12787561,12843241,15721744,16511561,16630834,16641999,17360711,17986144,18314228,19111578,19221408,19650138,19667325,19675248,19682973,19710022,19797784,19849793,19853643,19885829,19889475,19889971,19924286,20008141,20008660,20009122,20018629,20034479,20106965,20164095,20219685,20299451,20379614,20413895,20481270,20484632,19834068,20456003,20880607,20237298,20460383,20929727,20168091,10551805,11104755,8755489,15274632,10805794,11953314,10206644,17431506,9689133,9298903,8878479,12377771,9246482,19292975,19276551,19276550,19272356,19260824,19232479,19036728,19017784,19015863,19001354,18996842,18971484,18957849,18842294,18830724,18801744,18762245,18706205,18667537,18667258,18637955,18591429,18587238,18580586,18579078,18525293,18479822,18445230,18437002,18430735,18403054,18376127,18350357,18320103,18317569,18299393,18293935,18239458,18174159,18090315,18028191,18024701,17968601,17962197,17942194,17852592,17719017,17718701,17645236,17632280,17630980,17627113,17594345,17588625,17573346,17560791,17553989,17507029,17502474,17489097,17412506,17405936,17401156,17389597,17366635,17349981,17320044,17309564,17268505,17268504,17259169,17229472,17210196,17192785,17158800,17108181,17099291,17088253,17081983,16952411,16941492,16938285,16916581,16908988,16897084,16846981,16815845,16814287,16756946,16735229,16628450,16620965,16605258,16574645,16569643,16423463,16407539,16401857,16388371,16376112,16344560,16344340,16306047,16305624,16267640,16234244,16234243,16139258,16135086,16128583,16126725,16116115,16079160,16046406,16014629,16006137,15975090,15975068,15951428,15946688,15936948,15917251,15908021,15866047,15851849,15843437,15776278,15764596,15764367,15743767,15732120,15722417,15703411,15629423,15622541,15591316,15569674,15549135,15537629,15534260,15534188,15534001,15489334,15480879,15480851,15476169,15469450,15345747,15341515,15340889,15322084,15308304,15294909,15272895,15240571,12413003,12374741,12354302,12297508,12297048,12230303,12218704,12214059,12207970,12198112,12196555,12192622,12147673,12121968,12119298,12112163,12111439,12070348,12058025,12056836,12050157,12048259,12048239,11987239,11973477,11943765,11927360,11920851,11912199,11905990,11904448,11891288,11876645,11836371,11827452,11799129,11775232,11757955,11755019,11744687,11738826,11719200,11710891,11568920,11524469,11518718,9052708,9013610,9007311,8931704,8922407,8875251,8837617,8804415,8742474,8733303,8641442,8634712,8634711,8574969,8125298,7651536,7623584,7596406,7550356,1411576,1349467,1303289,19012753,11847232,9771752,15257293,10341227,10801983,16959576,20160458,20541250,20307581,20052609,20388456,17207965,18790549,20036849,20445084,21033353 1580694,2302204,1331525,1302519,729595,1302520,1334462 5663 NM_000021,NM_007318,NG_007386,AB159776,AC004846,AC004858,AF109907,CH471061,D84149,L76528,AF416717,AJ008005,AK094186,AK094256,AK122722,AK223173,AK303876,AK312531,AW069286,BC002708,BC011729,CR595392,CR614220,DA670846,DB075605,DB203403,L42110,L76517,U40379,U40380 NP_000012,NP_015557,BAD30017,AAF19253,AAF19254,AAC97960,EAW81091,EAW81092,EAW81093,EAW81094,EAW81095,EAW81096,EAW81097,BAA20883,AAB46371,AAL16811,CAA07825,BAD96893,BAH14071,BAG35430,AAH11729,AAB46416,AAB46370,AAB05894,AAB05895,P49768,Q53FV8,Q6F4C0,ADQ31747 Hs.3260 AD3|FAD|PS1|S182 OTTHUMP00000180591|PS-1|presenilin 1|presenilin 1 (Alzheimer disease 3)|presenilin-1 protein-coding 733569 PSEN2 presenilin 2 (Alzheimer disease 4) Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq] 2302204,2302525,729530,1302522,1300048,1302521 19913121,20628086,20677014,7638622,7638621,11278424,12196555,9223340,20850903,12787561,12843241,15721744,16630834,17986144,19573580,19768372,19834068,19889971,20008660,20009122,20375137,20468060,16375654,16344560,16258850,16233903,16135086,16014629,15975068,15951428,15776278,15755689,15663477,15629423,15591316,15537629,15534001,15489334,15006697,15004330,14769392,14741365,14577603,14504279,12925374,12885769,12846562,12817569,12770698,12639958,12605888,12556443,12477932,12471034,12403846,12232783,12210343,12198112,12173418,12058025,12048259,11987239,11904448,11891288,11876645,11847232,11799129,11738826,11719200,11568920,11518718,11436125,11076969,11001931,10993067,10922078,10854253,10748169,10732806,10677567,10652302,10631141,10497236,10446169,10369872,10366599,10361981,10078972,10069390,10037471,9990034,9852298,9813158,9771752,9683324,9558331,9521418,9450781,9437013,9384602,9298903,9252383,9219695,9073509,9050898,8972483,8940094,8939861,8878479,8661049,8618867,8574969,7651536,12297508,15274632,19276543,19073399,19036728,18842294,18727676,18667258,18591429,18427071,18350357,18293935,18283638,18087668,17903177,17727891,17614368,17560791,17412506,17401676,17401156,17345043,17268505,17268504,16620965,16474849,16423463,9632714,20164579,20457965,20333730 2302204,2302525,729530,1302522,1302521 5664 NM_000447,NM_012486,NG_007381,AL359732,AL391628,CH471098,U50871,AF416718,AI091221,AK292299,AK301143,BC006365,BT006984,CR594395,DA198818,DA915823,L43964,L44577,U34349 NP_000438,NP_036618,CAH73110,CAH73111,EAW69796,EAW69797,EAW69798,EAW69799,EAW69800,AAB50054,AAL16812,BAF84988,BAG62735,AAH06365,AAP35630,AAB59557,AAC42012,AAC50290,P49810,ABM81572,ABM84752 Hs.25363 AD3L|AD4|CMD1V|PS2|STM2 AD3LP|AD5|Alzheimer's disease 3-like|E5-1|OTTHUMP00000035672|PS-2|STM-2|presenilin-2 protein-coding 1347919 PSENEN presenilin enhancer 2 homolog (C. elegans) Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. [provided by RefSeq] 2302204 20534834,16449647,16331303,16234244,16234243,15975090,15953349,15489334,15322109,15322084,14572442,12763021,12740439,12679784,12660785,12639958,12522139,12477932,12198112,12110170,20929727,16641999,15274632,19036728,17668005,17280645,12787561,12843241,15721744,16630834,17986144,19889971,20178366 2302204 55851 NG_027934,NM_172341,AD000671,AF220053,AK312233,BC009575,BQ222622 NP_758844,AAF67646,BAG35166,AAH09575,Q9NZ42,ABM84021,ABM87367 Hs.534465 MDS033|MSTP064|PEN-2|PEN2 gamma-secretase subunit PEN-2|hematopoietic stem/progenitor cells protein MDS033|presenilin enhancer protein 2 protein-coding 1352538 PSG1 pregnancy specific beta-1-glycoprotein 1 1580863 19911417,971765,1572651,18987160,16381901,16303743,15489336,15489334,15057824,14702039,12477932,12223519,11076863,9290143,7794280,3265688,3260773,3257488,3180995,2786492,2783133,2735907,2541441,2537643,2377620,2350345,2346748,2341148,16169070,20335639 5669 NM_001184825,NM_001184826,NM_006905,AC005238,AF106542,CH471126,M22437,AK056754,AK300152,AK300206,AK311491,BC022338,BC058285,CR450329,CR590178,CR591870,CR595633,CR597449,CR597619,CR600097,CR601679,CR602381,CR603734,CR605150,CR606557,CR609429,CR609859,CR609860,CR610788,CR611664,CR612067,CR612366,CR613576,CR614244,CR616434,CR616751,CR621768,CR622475,CR622724,CR626825,J04539,M17908,M17909,M20879,M20881,M21822,M25385,M33663,M33664,M34715,M37397,CR601994,HC007234,CR614168,CR616593,CR594741,CR599288,CR600102 NP_001171754,NP_001171755,NP_008836,AAC25484,AAC25485,AAC25486,AAC25487,AAC25488,AAC25489,AAC25490,AAD21020,EAW57154,EAW57155,EAW57156,EAW57157,EAW57158,EAW57159,EAW57160,EAW57161,AAA60196,BAG61937,BAG61977,AAH22338,AAH58285,CAG29325,P11464,Q8NBY8,Q8NC17,Q9UMI0,Q9UPK8,Q9UPK9,CAL38076,CAL38478,CAL38521,AAA60204,AAA52590,AAA52591,AAA52602,AAA52603,AAA52601,AAA36513,AAA36517,AAA36515,AAA36511,AAA60960,O75237,O75238,CBH19422 Hs.709192 B1G1|CD66f|DHFRP2|FLJ90598|FLJ90654|PBG1|PSBG1|PSGGA|PSGIIA|SP1 CD66 antigen-like family member F|FL-NCA-1/2|PS-beta-C/D|PS-beta-G-1|PSBG-1|PSG95|fetal liver non-specific cross-reactive antigen 1/2|pregnancy-specific B-1 glycoprotein|pregnancy-specific beta-1 glycoprotein C/D|pregnancy-specific beta-1-glycoprotein 1|pregnancy-specific glycoprotein 1 protein-coding 1344333 PSG10 pregnancy specific beta-1-glycoprotein 10 1580863 15057824,8349632,2789512,2783133,2537643,2377620,2271648,1690992,1572651 653492 NR_026824,AC004603,AC005238,AF106559,AF106560,L14724,L14725,L14726,L14727,L14728,L14729,M74108,AK309876,L14723 Hs.655399 PSG10|PSG12 pseudo 1353660 PSG11 pregnancy specific beta-1-glycoprotein 11 1580863 1690992,7794280,12477932,10737800,7851895,1840485,17207965 5680 CR620285,CR623062,M69245,R66665,U25988,NM_002785,NM_001113410,AC004784,AC005947,AF106562,AF129398,CH471126,BC020711,BE767872,BF084984,BG571293,BG619770,CR593207,CR603744,CR606430,CR609036,CR611863,CR614699,CR615005,CR617319,NM_203287 AAA36516,AAA75299,Q9UQ72,NP_976032,NP_002776,NP_001106881,AAD21024,AAD38357,EAW57166,EAW57167,EAW57168,AAH20711,ADQ32252 Hs.646353 MGC22484|PSBG-11|PSBG-13|PSG13|PSG14 OTTHUMP00000200192|OTTHUMP00000200193|OTTHUMP00000200194|PS-beta-G-11|PS-beta-G-13|PSBG-11|PSBG-13|pregnancy specific beta-1-glycoprotein 13|pregnancy-specific beta-1-glycoprotein 11|pregnancy-specific beta-1-glycoprotein 13|pregnancy-specific glycoprotein 11|pregnancy-specific glycoprotein 13 protein-coding 1343677 PSG2 pregnancy specific beta-1-glycoprotein 2 1580863 3260773,15906358,15489334,15231748,15057824,12477932,8432525,2377620,2350345,1690992,20071292,7851896 5670 NM_031246,AC005791,AC024077,AF106544,CH471126,BC022316,CR592018,CR592059,CR593222,CR596357,CR599583,CR600983,CR604601,CR604687,CR605064,CR605538,CR610366,CR613614,CR615378,CR625588,CR625690,CR626512,M20882,M37398,HC007238 NP_112536,AAD21021,EAW57169,EAW57170,AAH22316,AAA52604,AAA60959,P11465,Q9UML9,ABM82285,ACE87750,ACE87068,CBH19424,AAC62831 Hs.709200 CEA|PSBG2|PSG1|PSGGB OTTHUMP00000200195|OTTHUMP00000200196|OTTHUMP00000200197|OTTHUMP00000200198|PS-beta-E|PS-beta-G-2|PSBG-2|Pregnancy-specific beta-1-glycoprotein-2|carcinoembryonic antigen SG8|pregnancy-specific beta-1 glycoprotein E|pregnancy-specific beta-1-glycoprotein 2|pregnancy-specific beta-1-glycoprotein 7|pregnancy-specific beta-1-glycoprotein-2|pregnancy-specific glycoprotein 2 protein-coding 1345606 PSG3 pregnancy specific beta-1-glycoprotein 3 1580863 7851896,2302228,2341148,3265688,16344560,15489334,15231748,15057824,12477932,8487756,7851895,2788412,2387594,2350345 5671 A23031,AC004654,AC005337,AF106546,CH471126,BC005924,BG620196,CR594229,CR596325,CR605585,CR613711,CR616698,CR625118,DA833589,M23575,M27907,M30628,M34420,M37399,NM_021016,HC007240,M93061,S59493,S59494 NP_066296,CAA01646,AAC15513,AAD28498,EAW57146,EAW57147,EAW57148,AAH05924,AAA52607,AAA57349,AAA66498,AAA52606,AAA60958,CBH19425,AAC60584,AAC60585,Q08266,Q15226,AAA60207,Q15403,Q16557,ABM87461,ABW03894 Hs.654413 PS-beta-G-3|PSBG-3|carcinoembryonic antigen SG5|pregnancy-specific beta-1-glycoprotein 3|pregnancy-specific glycoprotein 3 protein-coding 1348613 PSG4 pregnancy specific beta-1-glycoprotein 4 1580863 7851896,7794280,12477932,10737800,9645429,7851895,3180995,2783133,2537643,2346490,2271648,1922019,1690992 5672 NM_002780,AC005392,AF106548,AF288220,CH471126,M32623,M32624,M32625,M32626,M32627,AF289606,AK075149,NM_213633,CR623361,X17097,HC007242,BC008405,BC013431,BC035419,BC063127,BG006351,BT007413,BX403624,CR590580,CR597735,CR598758,CR605078,CR609817,CR611858,CR616976,CR621099,CR622324,CR625940,M33665,M94891,U18468,U18469 NP_998798,NP_002771,AAD28499,AAF91489,EAW57174,EAW57175,EAW57176,EAW57177,AAL55790,BAG52074,CAA34956,CBH19426,AAH08405,AAH63127,AAP36081,AAA60208,AAA60195,AAA75294,AAA75295,Q00888,Q6P520,Q8WYY6,Q96QL5 Hs.709200 PSG9 PS-beta-G-4|PS-beta-G-9|PSBG-4|PSBG-9|Pregnancy-specific beta-1-glycoprotein-4|pregnancy-specific beta-1-glycoprotein 4|pregnancy-specific beta-1-glycoprotein 9|pregnancy-specific glycoprotein 4|pregnancy-specific glycoprotein 9 protein-coding 1353998 PSG5 pregnancy specific beta-1-glycoprotein 5 1580863 1690992,17978129,16563348,16344560,15489334,15231748,12477932,8889549,7851895,7794280,2789512,2735907,2537643,1922019,1454058,17207965 5673 NM_002781,NM_001130014,AC005392,AF106550,CH471126,L36606,M32629,M32630,M32631,M32632,M32633,M32634,M32635,S49771,X63203,AA151017,BC012607,BG621332,BG622527,CR592362,CR595886,CR602011,CR603900,CR605183,CR606280,CR607340,CR609451,CR612136,CR616270,CR619390,CR621678,CR624729,CR625219,DA835167,L36607,M25384,M73713,M32628 NP_002772,NP_001123486,AAD28500,EAW57171,EAW57172,EAW57173,AAA21881,AAB24372,CAA44885,AAH12607,AAA21765,AAA36514,AAA60205,Q13830,Q15228,Q15229,Q15238,Q16502,ACE87423,ACE86737,ADQ32330 Hs.654415 FL-NCA-3|PSG OTTHUMP00000200181|PS-beta-G-5|PSBG-5|Pregnancy-specific beta-1-glycoprotein-5|fetal liver non-specific cross-reactive antigen 3|pregnancy-specific beta 1 glycoprotein|pregnancy-specific beta-1 glycoprotein|pregnancy-specific beta-1-glycoprotein 5|pregnancy-specific glycoprotein 5 protein-coding 1345325 PSG6 pregnancy specific beta-1-glycoprotein 6 1580863 2271648,1690992,15489334,15057824,12477932,7851895,7794280,2783133,2537643,2377620,2346748 5675 M33666,X17098,NM_002782,AC005260,AF106552,CH471126,M32621,M37757,BC020652,CR590179,CR591201,CR596603,CR602028,CR614251,CR617115,CR617454,CR618354,CR621774,CR623127,M31125,NM_001031850,HC007246 AAA36512,AAA60206,CAA34957,Q00889,ABM84040,ABM87387,NP_001027020,NP_002773,AAC25619,AAC25620,AAD28501,EAW57162,EAW57163,AAA60201,AAA60202,AAH20652,CBH19428 Hs.654414 PSBG-10|PSBG-12|PSBG-6|PSG10 PS-beta-G-10|PS-beta-G-12|PS-beta-G-6|PSBG-10|PSBG-12|PSBG-6|pregnancy specific beta-1-glycoprotein 6|pregnancy-specific beta-1-glycoprotein 10|pregnancy-specific beta-1-glycoprotein 12|pregnancy-specific beta-1-glycoprotein 6|pregnancy-specific glycoprotein 10|pregnancy-specific glycoprotein 12|pregnancy-specific glycoprotein 6 protein-coding 1347251 PSG7 pregnancy specific beta-1-glycoprotein 7 This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The reference genome contains a nonsense mutation that disrupts the coding sequence, suggesting that this gene may be evolving into a pseudogene. [provided by RefSeq] 1580863 1690992,15057824,12477932,11501563,7851895,7794280,7566098,2377620,1572651 5676 NM_002783,AC005260,AC093055,AF106553,AF106554,CH471126,M32619,M37754,M37755,M74105,AL546656,BC030979,BC136401,BG434892,BX952498,DC380850,U18467 NP_002774,AAC25621,EAW57164,EAW57165,AAA60200,AAA60199,AAA75293,Q13046,Q15230 Hs.709203 PSG1|PSGGA OTTHUMP00000209547|PS-beta-G-7|PSBG-7|pregnancy-specific beta-1-glycoprotein|pregnancy-specific glycoprotein 7|putative pregnancy-specific beta-1-glycoprotein 7 protein-coding 1346220 PSG8 pregnancy specific beta-1-glycoprotein 8 2302228,14702039,12477932,7851895,3263130,1672663,1572651 440533 NM_182707,NM_001130167,NM_001130168,AC004654,AF106555,AF106556,CH471126,M22311,M22312,M74106,M74196,AK092458,AK300230,AL545004,BC137500,BC142628,BX114490,CR595658,CR597594,CR601051,CR604426,CR604837,CR609951,CR616492,CR749812,M30629,CR600148 NP_874366,NP_001123639,NP_001123640,AAC15514,AAD21022,EAW57149,EAW57151,AAA60025,AAA60026,AAA60027,BAG61998,AAI37501,AAI42629,CAH18672,EAW57150,AAA67524,Q15106,Q15107,Q15108,Q15402,Q68CR6,Q9UQ74 Hs.466843 DKFZp781L10202|PSG1 C1 alternate|C2 alternate|C3 alternate|OTTHUMP00000199188|PS-beta-G-8|PSBG-8|pregnancy-specific beta-1 glycoprotein|pregnancy-specific beta-1-glycoprotein 8|pregnancy-specific glycoprotein 8 protein-coding 1349601 PSG9 pregnancy specific beta-1-glycoprotein 9 1580863 7794280,1690992,1922019,2537311,16169070,15982419,15489334,15231748,15057824,12477932,7851895,7806221,2346748,2341148,2328001,2322584,1581354 5678 NM_002784,AC005392,AF106558,CH471126,M38243,U04323,U04324,U04325,U08196,U08197,AK300187,AK300229,AK313256,BC005925,BC020759,BX952516,CR407605,CR592773,CR592867,CR592973,CR593342,CR594722,CR600180,CR601302,CR604150,CR605825,CR606102,CR606663,CR610324,CR611230,CR614746,CR616189,CR619024,CR622271,CR623240,CR626318,M34421,M34481,M38046,M58591,M94890,U25987,X17610,HC007250 Q05DN5,Q12810,Q12811,Q13178,Q15225,Q15227,Q15461,NP_002775,AAD21023,EAW57179,EAW57180,EAW57181,EAW57182,EAW57183,EAW57184,AAA63252,AAA78263,AAA78264,AAA78266,AAA78805,AAA18432,BAG61963,BAG61997,BAG36066,AAH05925,CAG28533,AAA52605,AAA74512,AAA63251,AAA60203,AAA60194,AAA75298,CAA35612,Q00887,AAH20759,Q6LEU7,Q9UMH8,ABM82311,ABM85487,CBH19430 Hs.502092 PS34|PSBG-11|PSBG-9|PSG11|PSGII PS-beta-B|PS-beta-G-11|PS-beta-G-9|pregnancy specific beta-1-glycoprotein 11|pregnancy-specific beta-1 glycoprotein B|pregnancy-specific beta-1-glycoprotein 9 protein-coding 1350264 PSIP1 PC4 and SFRS1 interacting protein 1 1580863 19759913,20678206,18708362,18598942,18247352,18036557,17804545,17669426,17451600,17397262,17267486,16959972,16793062,16735438,16439544,16403949,16344560,16337983,16311605,16083285,15855167,15797927,15749713,15725483,15501396,15501393,15475359,15371438,15308744,15302935,15163664,12796494,12477932,12407101,12181742,12126624,10623627,18029348,19244240,19715609,19801648,19855849,19864417,19889764,19934313,20331877,20367881,20382164,20631726,12091904,16291214,12228227,15479846,19229293,19132083,18799576,10856157,10721720,9885563,9822615,8889548,17158150,16987986,16959283,17137594,16403635,16075307,15875659,17172465,17083721,16314581,16260736,15895093,15788449 11168 NM_021144,NM_001128217,AF199339,AL359998,AL441925,AL513423,CH471071,AF063020,AF098482,AF098483,NM_033222,AF432220,BC013160,BC022971,BC033817,BC040032,BC044568,BC064135,BQ186453,BX649155,CR611837,DA117094,U94319 NP_150091,NP_066967,NP_001121689,AAF25870,AAF25871,CAH71355,CAI13287,EAW58675,EAW58676,EAW58677,EAW58678,EAW58679,AAC25167,AAC97945,AAC97946,AAL99926,AAH22971,AAH33817,AAH44568,AAH64135,AAB52589,O75475,Q05CM9,Q8N4N4 Hs.726445 DFS70|LEDGF|MGC74712|PAIP|PSIP2|p52|p75 CLL-associated antigen KW-7|DFS 70|OTTHUMP00000022755|PC4 and SFRS1-interacting protein|dense fine speckles 70 kDa protein|lens epithelium-derived growth factor|transcriptional coactivator p52/p75|transcriptional coactivator p75/p52 protein-coding 1347296 PSIP1P PC4 and SFRS1 interacting protein 1 pseudogene 353329 NG_002792,AL592293 PSIP1P pseudo 2881563 PSIP1P2 PC4 and SFRS1 interacting protein 1 pseudogene 2 12815422,9847074 360022 AC006371,NG_002938 pseudo 1312210 PSKH1 protein serine kinase H1 1580863 16344560,15489334,14644153,12477932,12466556,11087665,11058107,9889196,8268911,2948189 5681 NM_006742,AC040162,CH471092,AJ272212,BC021584,BC037560,BC062616,CR619744,DA429976,M14504,AK309272 NP_006733,EAW83185,CAB91984,AAH62616,AAA36519,P11801 Hs.513683 PSK-H1|serine/threonine-protein kinase H1 protein-coding 1345682 PSKH2 protein serine kinase H2 1580863 15489334,12477932,12471243 85481 NM_033126,AC023194,CH471060,AY037806,BC126180,BC126182,BC144195 NP_149117,EAW91630,AAK59985,AAI26181,AAI26183,Q96QS6,ADR83152 Hs.680136 PSK-H2|serine/threonine kinase PSKH2|serine/threonine-protein kinase H2 protein-coding 733996 PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 14527406,7681138,15225636,11285280,15029244,12791267,16713569,16344560,16189514,15489334,14550573,14528300,12477932,12419264,11205743,10983987,10799514,10068451,9497851,9464850,9451443,9079628,8811196,7811265,2025653,1888762,1660345,1517242,1398136,14614829,14564014,14557625,14528301,12150907,14733938,17292860,19596235,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9811770,10893419,16169070,17353931,9846577 5682 CR599736,NM_002786,AC018523,AC087207,CH471064,AK290765,AK303565,AW015660,BC002577,BC005932,BC008472,BC009576,BC015105,BC015356,BC022372,NM_148976,BT006647,CR597642,CR598938,CR599649,CR607412,CR607472,CR610121,CR612800,CR613717,CR617103,CR620774,CR623849,D00759,DA549688,M64992,X61969,NM_001143937,HB870585,HC927994 NP_683877,NP_002777,EAW68476,EAW68477,EAW68478,EAW68479,BAF83454,BAG64588,AAH02577,AAH05932,AAH08472,AAH09576,AAH15105,AAH15356,AAH22372,AAP35293,BAA00656,AAA92734,CAA43961,P25786,Q53YE8,ABM85586,NP_001137409,CBF59411,CBU84655 Hs.102798 HC2|MGC14542|MGC14575|MGC14751|MGC1667|MGC21459|MGC22853|MGC23915|NU|PROS30 30 kDa prosomal protein|PROS-30|macropain subunit C2|macropain subunit nu|multicatalytic endopeptidase complex subunit C2|proteasome (prosome, macropain) subunit, alpha type 1|proteasome component C2|proteasome nu chain|proteasome subunit alpha type-1|proteasome subunit nu|proteasome subunit, alpha-type, 1|protein P30-33K protein-coding 732886 PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq] 1580863 15225636,17353931,11285280,15029244,12791267,16777052,16344560,15592455,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,17207965,16098527,16759355,14733938,16548883,19596235,12808466,12808465,12750511,12719574,12690205,12477932,12446740,12419264,12167863,10983987,10893419,10436176,9846577,9811770,9373149,9079628,8811196,8635518,8125298,7966316,7811265,7558012,2025653,1888762,11205743,12970355,12920286,12914693,12859895,12840737,12830140,12809610 5683 NM_002787,AC010132,CH236951,CH471073,D10758,AK222976,AK290654,AU120930,BC002900,BC047697,BX641097,CB990982,CR450317,CR590217,CR597674,CR598541,CR599611,CR606611,CR616515,CR607875,CR608618,CR620562,CR623578,D00760,HB870625,HC928034 NP_002778,EAL24005,EAW94151,EAW94152,EAW94153,BAD96696,BAF83343,AAH02900,AAH47697,CAE46046,CAG29313,BAA00657,P25787,Q53GF5,Q6MZI6,ADQ33065,CBF59431,CBU84675 Hs.333786 HC3|MU|PMSA2|PSC2 OTTHUMP00000207364|OTTHUMP00000207366|macropain subunit C3|multicatalytic endopeptidase complex subunit C3|proteasome (prosome, macropain) subunit, alpha type 2|proteasome component C3|proteasome subunit HC3|proteasome subunit alpha type-2 protein-coding 732188 PSMA3 proteasome (prosome, macropain) subunit, alpha type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq] 1580863 14667819,15225636,15231747,16169070,11285280,15029244,12791267,16130169,18029348,18971267,17081983,16964243,16713569,15831937,15592455,15489334,15302935,14702039,14674694,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12379479,12376572,12167863,11350925,11341940,11205743,11146632,10893419,9846577,9811770,9451443,9079628,8811196,20098747,12826010,14733938,18276110,19208651,19412159,19596235,8619999,7857283,7811265,2025653,17353931 5684 NM_002788,NM_152132,AL132989,CH471061,AK315158,BC005265,BC029402,BC038990,BT006711,BT019715,CR456933,CR607027,CR608468,CR615289,CR619196,CR621171,CR626135,CR626517,D00762 NP_002779,NP_687033,EAW80715,EAW80716,EAW80717,EAW80718,EAW80719,EAW80720,EAW80721,EAW80722,BAG37603,AAH05265,AAH29402,AAH38990,AAP35357,AAV38520,CAG33214,BAA00659,P25788,Q6IB71,ABM83571,ABM86809 Hs.558799 HC8|MGC12306|MGC32631|PSC3 macropain subunit C8|multicatalytic endopeptidase complex subunit C8|proteasome (prosome, macropain) subunit, alpha type 3|proteasome component C8|proteasome subunit C8|proteasome subunit alpha type-3 protein-coding 1346695 PSMA3P proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene 326617 NG_002607,AL163853 pseudo 735266 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20554942,20587604,15225636,11285280,15029244,12791267,18780872,18385738,18385676,16964243,15987638,15489334,15146197,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11205743,10893419,9846577,9811770,9079628,8811196,8687380,8619999,8175701,7821789,7811265,2025653,15782160,14733938,19596235,19615732,19851296,20198315,19300482,16714300,16759355 5685 HB870627,HC928036,NM_001102668,NM_001102667,AC027228,CH471136,AK055714,AK315526,AL110100,BC001490,BC005361,BC022445,BC022817,BC030529,BC047667,BC056249,BC093069,BG528289,BG616186,BT009784,BU930105,CD365826,CN337296,CR590522,CR593003,CR598737,CR608152,CR608518,CR610985,CR616802,CR620141,CR620314,D00763,D28362,NM_002789 CBF59432,CBU84676,NP_002780,NP_001096138,NP_001096137,EAW99163,EAW99164,EAW99165,BAG37907,AAH05361,AAH22445,AAH22817,AAH47667,AAH56249,AAH93069,AAP88786,BAA00660,BAA05728,P25789,Q567Q5,Q7Z474,ABM83465,ABM86676 Hs.251531 HC9|HsT17706|MGC111191|MGC12467|MGC24813|PSC9 macropain subunit C9|multicatalytic endopeptidase complex subunit C9|proteasome (prosome, macropain) subunit, alpha type 4|proteasome component C9|proteasome subunit HC9|proteasome subunit L|proteasome subunit alpha type-4 protein-coding 734293 PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq] 1580863 16251969,11285280,15029244,12791267,16964243,16710414,15489334,15302935,15225636,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11771738,11205743,10893419,10363657,9846577,9811770,9530635,9373149,9079628,8811196,8125298,7811265,1888762,1286667,14499622,11877445,16583711,19596235,14702039,16341674,20383146 5686 NM_002790,AL356735,AL390252,CH471122,AK225990,AK304448,AK313351,BC018605,BC102018,BC102019,BC102020,BC103751,BG743267,BT019717,CR456847,CR595573,CR600385,CR600422,CR601200,CR602805,CR603065,CR614020,X61970,AK124307,BI825400,BM793388,DC320780,DC324021,DC324498,H08369,NM_001199772,NM_001199773,NM_001199774 NP_002781,CAH70887,CAI13171,EAW56381,EAW56382,EAW56383,BAG65266,BAG36153,AAI02019,AAI02020,AAI02021,AAI03752,AAV38522,CAG33128,CAA43962,P28066,Q5U0A0,NP_001186701,NP_001186702,NP_001186703 Hs.485246,Hs.586550 FLJ42315|MGC117302|MGC125802|MGC125803|MGC125804|PSC5|ZETA macropain subunit zeta|macropain zeta chain|multicatalytic endopeptidase complex zeta chain|proteasome (prosome, macropain) subunit, alpha type 5|proteasome alpha 5 subunit|proteasome component 5|proteasome subunit alpha type-5|proteasome subunit zeta|proteasome zeta chain protein-coding 736338 PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. A pseudogene has been identified on the Y chromosome. [provided by RefSeq] 11917093,14743216,9096325,12167863,11924531,11771738,11205743,10983987,10893419,9846577,9811770,9497851,9451443,9079628,9056411,8811196,8618844,7821789,7811265,17353931,16759355,14733938,19526842,19596235,19615732,19624571,20408869,15225636,16169070,11285280,15029244,12791267,18029348,1888762,19336475,19282875,19272601,19182073,19056482,18358479,18231128,18158110,18157711,17555133,17535269,17384448,16845397,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,7681138,19913121,20628086,20953189 5687 NM_002791,NG_011703,AF332577,AL121594,AL133163,CH471078,AK298920,AK302008,AK313011,AK316223,BC002979,BC017882,BC022354,BC023659,BC070137,BG701535,CR456944,CR592479,CR593415,CR593894,CR606392,CR616376,CR616921,D28434,X59417,X61972 NP_002782,AAG61139,EAW65876,EAW65877,BAG61026,BAG63411,BAG35846,BAH14594,AAH02979,AAH17882,AAH22354,AAH23659,AAH70137,CAG33225,BAA05800,CAA42052,CAA43964,P60900,Q9BZ93,ABM83272,ABM86477 Hs.446260 IOTA|MGC22756|MGC2333|MGC23846|PROS27|p27K 27 kDa prosomal protein|PROS-27|macropain iota chain|macropain subunit iota|multicatalytic endopeptidase complex iota chain|prosomal P27K protein|proteasome (prosome, macropain) subunit, alpha type 6|proteasome iota chain|proteasome subunit alpha type-6|proteasome subunit iota protein-coding 1354450 PSMA6P proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 12815422,9847074 64596 NG_002321,AC010877 PSMA6-LIKE|PSMA6P|PSMA6Y pseudo 737158 PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. This particular subunit has been shown to interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. In addition, this subunit is involved in regulating hepatitis virus C internal ribosome entry site (IRES) activity, an activity essential for viral replication. This core alpha subunit is also involved in regulating the hypoxia-inducible factor-1alpha, a transcription factor important for cellular responses to oxygen tension. Multiple isoforms of this subunit arising from alternative splicing may exist but alternative transcripts for only two isoforms have been defined. A pseudogene has been identified on chromosome 9. [provided by RefSeq] 1580863 16759355,20029029,14733938,16251969,19062718,19362550,19596235,15029244,12791267,18202793,17353931,16678104,15987638,15635413,15489334,14759258,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11780052,11713272,11389899,11361004,11262608,11205743,11042152,10893419,10748218,10436176,9846577,9811770,9079628,8811196,8764072,7857283,7811265,15225636,11285280 5688 NM_002792,AL078633,CH471077,AF022815,AF054185,AK312025,BC001895,BC004427,BC014999,BI258951,BI906714,BT007165,CR596694,CR600734,CR603718,CR611945,CR615593,CR616396,CR618955,CR621598,CR622362,CR624293,CR600945,HB870813,HC928222 EAW75399,EAW75400,NP_002783,CAC04017,CAC04018,CAI18837,CAI18838,EAW75398,AAB81515,AAC99402,BAG34962,AAH04427,AAH14999,AAP35829,O14818,Q05DH1,Q5JXJ1,Q5JXJ2,ABM92206,ABM84680,CBF59525,CBU84769 Hs.233952 C6|HSPC|MGC3755|RC6-1|XAPC7 OTTHUMP00000031450|OTTHUMP00000031453|proteasome (prosome, macropain) subunit, alpha type 7|proteasome subunit RC6-1|proteasome subunit XAPC7|proteasome subunit alpha 4|proteasome subunit alpha type-7 protein-coding 1353003 PSMA7P proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene 158441 NG_002333,AL354861 pseudo 1349882 PSMA8 proteasome (prosome, macropain) subunit, alpha type, 8 1580863 16177791,15489334,12477932,12376572,11285280,12791267 143471 HB870715,HC928124,NM_144662,NM_001025096,NM_001025097,AC016839,AC091021,CH471088,BC021713,BC025389,BC025393,BC028371,BC028686,BC042820,BC047355,EF445014 CBF59476,CBU84720,NP_653263,NP_001020267,NP_001020268,EAX01214,EAX01215,EAX01216,AAH21713,AAH28371,AAH28686,AAH42820,Q4G1B8,Q8TAA3,ACA06053 Hs.464813 MGC26605|PSMA7L proteasome subunit alpha type-7-like protein-coding 733154 PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq] 1580863 15231747,17353931,11285280,15029244,12791267,15848047,15489334,15342556,14702039,14574404,14550573,12525704,12477932,12419264,11205743,10893419,9373149,9079628,8811196,8125298,7966316,7811265,7558012,2306472,2025653,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,14499622,18029348,14732874,14733938,19596235,20558726 5689 NM_002793,AL008628,AL031259,CH471051,D14668,AB209078,AB451312,AB451442,AK023290,AK058050,AK223193,BC000508,BC020807,BP369175,BQ685374,BT019720,CR593995,CR597967,CR599654,CR602488,CR604337,CR611159,CR613544,CR615498,CR617343,CR621157,D00761 NP_002784,CAA20287,EAW47420,EAW47421,EAW47422,EAW47423,BAD92315,BAG70126,BAG70256,BAD96913,AAH00508,AAH20807,AAV38525,BAA00658,P20618,Q53FT8,Q59GN1,ABW03780,ABW03473,CAI19555 Hs.352768 FLJ25321|HC5|KIAA1838|PMSB1|PSC5 macropain subunit C5|multicatalytic endopeptidase complex subunit C5|proteasome (prosome, macropain) subunit, beta type 1|proteasome beta 1 subunit|proteasome component C5|proteasome gamma chain|proteasome subunit HC5|proteasome subunit beta type-1 protein-coding 1316619 PSMB10 proteasome (prosome, macropain) subunit, beta type, 10 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. 1580863 16169070,18694960,16341674,11285280,8666937,15029244,12791267,17541830,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12519221,12477932,12419264,12417987,12167863,10893419,10329130,9846577,9551082,9373149,9079628,8811196,8268911,8125298,9811770,15356131,19913121,20628086 5699 HI580885,AK298012,NM_002801,AC040162,CH471092,X71874,AK225658,AK312208,BC017198,BC052369,BM845639,BT019723,BT019724,CR456982,CR597889,CR607369,CR619398,Y13640 CBX46811,BAG60316,NP_002792,EAW83187,CAA50709,BAG35141,AAH17198,AAH52369,AAV38528,AAV38529,CAG33263,CAA73982,P40306,Q6IB22 Hs.9661 FLJ00366|LMP10|MECL1|MGC1665|beta2i low molecular mass protein 10|macropain subunit MECl-1|multicatalytic endopeptidase complex subunit MECl-1|proteasome MECl-1|proteasome catalytic subunit 2i|proteasome subunit MECL1|proteasome subunit beta 7i|proteasome subunit beta type-10|proteasome subunit beta-2i protein-coding 2291820 PSMB11 proteasome (prosome, macropain) subunit, beta type, 11 Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM] 19289856,17540904,14702039,11285280,12791267 122706 NM_001099780,AL132780,AB299437,AK122797 NP_001093250,BAF63540,BAG53735,A5LHX3 Hs.508918 BETA5T|FLJ16369 proteasome subunit beta 5T|proteasome subunit beta type-11|proteasome subunit beta-5t protein-coding 732759 PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq] 1580863 14733938,19596235,11285280,15029244,12791267,16710414,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12456675,12419264,12167863,11205743,10893419,10436176,9846577,9811770,9344661,9079628,8811196,7918633,7811265,1602151,1286667,8889548,16341674 5690 AK296956,NM_002794,AL157951,AL354864,AL357035,CH471059,AB209470,AI025755,AK310023,AV762678,BC000268,BC101836,BC105126,BC107901,BT007137,CR456862,CR599428,D26599,BM664618,BM849239,NM_001199779,NM_001199780 BAH12464,NP_002785,CAI23521,CAC36031,CAI22074,EAX07406,EAX07407,EAX07408,BAD92707,AAI01837,AAI05127,AAI07902,AAP35801,CAG33143,BAA05646,P49721,Q59FJ0,ABM84465,ABM87798,NP_001186708,NP_001186709 Hs.471441,Hs.657997 HC7-I|MGC104215|MGC126885 macropain subunit C7-I|multicatalytic endopeptidase complex subunit C7-1|multicatalytic endopeptidase complex subunit C7-I|proteasome (prosome, macropain) subunit, beta type 2|proteasome beta 2 subunit|proteasome component C7-I|proteasome subunit beta type-2|proteasome subunit, beta type, 2 protein-coding 734194 PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Pseudogenes have been identified on chromosomes 2 and 12. [provided by RefSeq] 1580863 14733938,19596235,19615732,17353931,11285280,15029244,12791267,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11205743,10893419,9846577,9811770,9344661,9079628,8811196,7918633,7811265,1286667 5691 NM_002795,AC006449,CH471152,BC013008,CR590404,CR607993,D26598 NP_002786,EAW60531,AAH13008,BAA05645,P49720 Hs.82793 HC10-II|MGC4147 proteasome (prosome, macropain) subunit, beta type 3|proteasome chain 13|proteasome component C10-II|proteasome subunit beta type-3|proteasome theta chain protein-coding 1353264 PSMB3P proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 121131 NG_001533,AC009779 pseudo 1626564 PSMB3P2 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2 9847074 130700 NG_001538,AC073321 pseudo 1344491 PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq] 1580863 20810900,11438941,19596235,19851296,20198315,20379614,11285280,15029244,12791267,18029348,16130169,18504423,15592455,15489334,15231748,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,12097147,11205743,10893419,10436176,9846577,9811770,9344661,9079628,8811196,8013624,7918633,7811265,2306472,1286667,9344905 5692 CR601408,CR614857,AL589764,CH471121,AK294149,AK313825,BC000331,BC008314,BC010088,BC010098,BC011768,BC012168,BC017307,BC017451,BC017486,BT006917,CR456820,CR591973,CR596742,CR600806,CR604816,NM_002796,CR604973,CR611217,CR612779,CR614383,CR616239,CR616885,CR620486,CR621730,D26600,S71381 NP_002787,CAI16806,EAW53442,BAG57474,BAG36560,AAP35563,CAG33101,BAA05647,AAB31085,P28070,ABM81674,ABM82946,ABM86138 Hs.89545 HN3|HsN3|PROS-26|PROS26 26 kDa prosomal protein|hsBPROS26|macropain beta chain|multicatalytic endopeptidase complex beta chain|proteasome beta chain|proteasome chain 3|proteasome subunit HsN3|proteasome subunit beta type-4|proteasome subunit, beta type, 4 protein-coding 735704 PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15231747,17353931,11285280,15029244,12791267,19426847,18565852,18562081,18519783,18502982,17262013,15944226,15489334,15488952,14743216,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11205743,10893419,10692467,9846577,9811770,9382924,9373149,9079628,8811196,8753855,8125298,8066462,7864893,7820546,7811265,2306472,17207965,14733938,18711014,19596235,19615732,20555361 5693 NM_001130725,NM_002797,NM_001144932,AL132780,CH471078,X95586,AK225888,AK300714,AK311895,BC057840,BC107720,BT006777,BU539357,BU632351,BX248299,BX538001,CD048996,CR590982,CR595105,CR601158,CR602207,CR618529,CR619337,CR624163,S74378 NP_001124197,NP_002788,NP_001138404,EAW66193,EAW66194,EAW66195,CAA64838,BAG62391,BAG34836,AAH57840,AAI07721,AAP35423,CAD62626,CAD97956,AAB33092,P28074,Q86T01,ADQ33015 Hs.422990 LMPX|MB1|MGC104214|X PSX large multifunctional protease X|macropain epsilon chain|multicatalytic endopeptidase complex epsilon chain|proteasome (prosome, macropain) subunit, beta type 5|proteasome beta 5 subunit|proteasome catalytic subunit 3|proteasome chain 6|proteasome epsilon chain|proteasome subunit MB1|proteasome subunit X|proteasome subunit beta type-5|proteasome subunit, beta type, 5 protein-coding 1349289 PSMB6 proteasome (prosome, macropain) subunit, beta type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 1i (proteasome beta 9 subunit). [provided by RefSeq] 1580863 11285280,15029244,12791267,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12719574,12477932,12419264,12388758,12167863,11205743,10893419,9846577,9811770,9079628,8811196,8066462,7811265,2306472,1888762,16169070,14733938,19615732,12750511 5694 NM_002798,AC109333,AC233723,CH471108,AK311768,BC000835,BQ691763,BT009809,CR457065,CR605583,CR611559,D29012,X61971 NP_002789,EAW90407,BAG34711,AAH00835,AAP88811,CAG33346,BAA06098,CAA43963,P28072,Q6IAT9,ABM82142,ABM85325 Hs.77060 DELTA|LMPY|MGC5169|Y PSY large multifunctional protease Y|macropain delta chain|multicatalytic endopeptidase complex delta chain|proteasome catalytic subunit 1|proteasome delta chain|proteasome subunit Y|proteasome subunit beta 6|proteasome subunit beta type-6|proteasome subunit delta protein-coding 732115 PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon and proteolytic processing is required to generate a mature subunit. This subunit is not present in the immunoproteasome and is replaced by catalytic subunit 2i (proteasome beta 10 subunit). [provided by RefSeq] 1580863 11285280,15029244,12791267,18768472,18549262,18462727,18378283,15592455,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11295498,11205743,10893419,10384092,9846577,9811770,9373149,9079628,8811196,8666937,8125298,7811265,14733938,16169070,19645816,20010949,20379614,20736409 5695 CR597061,CR603700,CR615405,CR618251,CR620261,CR622000,CR626648,D38048,AL137846,CH471090,AJ420455,AK056654,AK098757,AK223007,AK223356,AK303460,AK308756,AK314302,BC000509,BC008414,BC017116,BT007218,CR456721,CR595683,NM_002799,GU727627 BAA07238,Q6IBT1,Q86U62,Q99436,NP_002790,CAI10873,CAI10874,EAW87582,EAW87583,BAD96727,BAD97076,BAG64503,BAG36956,AAH00509,AAH17116,AAP35882,CAG33002,ADU87629 Hs.213470 Z macropain chain Z|multicatalytic endopeptidase complex chain Z|proteasome catalytic subunit 2|proteasome subunit Z|proteasome subunit alpha|proteasome subunit beta 7|proteasome subunit beta type-7 protein-coding 731895 PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq] 1331525,1580863 19619915,19851445,20153157,20331378,20470844,20503287,20525414,21129723,15231747,11285280,15029244,12791267,19526842,19443843,19404951,19258923,19202550,19148137,19065646,19037255,18248301,17703412,17581627,17525827,17491658,17142736,16423992,16396320,16341674,16338279,16224524,15944226,15907481,15603870,15489334,15488952,14702039,14574404,14551602,14550573,12648225,12519221,12477932,12419264,12225333,12209365,11793848,11772516,11737038,11669176,11494532,11051286,10975991,10926487,10893419,10657252,10329130,9271825,9157092,9079628,8811196,8666937,8568858,8550087,8458375,8344725,7811265,7498531,1922342,1529427,1453454,1429565,15356131,10358150,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,15303969,19913121,20628086 1331525 5696 NM_148919,AL669918,AL671681,AL935043,BX088556,BX682530,BX927138,CH471081,CR753889,NM_004159,CR762476,CT009502,U32862,U32863,X66401,X87344,Z14982,AA807046,AK300962,AW242683,BC001114,BG547344,BG760674,BM547457,BM781620,CR541661,CR591946,CR595654,CR596244,CR606312,CR621259,CR621302,U17496,U17497,X62598 NP_004150,NP_683720,CAI18138,CAI18139,CAI17712,CAI17713,CAI18623,CAI18624,CAI18625,CAM26260,CAM26261,CAM26262,CAM25945,CAM25946,CAM25947,CAQ08445,CAQ08446,CAQ08448,EAX03644,EAX03645,CAQ10284,CAQ10285,CAQ10286,CAQ08492,CAQ08493,CAQ08494,CAQ07779,CAQ07780,CAQ07781,AAA80234,AAA80235,CAA47026,CAA60786,CAA60787,CAA78705,CAA78706,BAH13383,AAH01114,CAG46462,AAA56777,AAA56778,CAA44482,P28062,Q5QNR8,Q6FHU0 Hs.180062 D6S216|D6S216E|LMP7|MGC1491|PSMB5i|RING10|beta5i low molecular mass protein 7|low molecular weight protein 7|macropain subunit C13|multicatalytic endopeptidase complex subunit C13|protease component C13|proteasome catalytic subunit 3i|proteasome component C13|proteasome subunit Y2|proteasome subunit beta 5i|proteasome subunit beta type-8|proteasome subunit beta-5i|proteasome-related gene 7|proteosome (prosome, macropain) subunit, beta type 8|really interesting new gene 10 protein protein-coding 737219 PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2) The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding different isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq] 1580863 11285280,15029244,12791267,19404951,19202550,18694960,18248301,17581627,17491658,17142736,16957778,16396320,16224524,16222703,20300807,19148137,19526842,19833746,19851445,20153157,20174631,20470844,20525414,15603870,15489334,15284441,14574404,14550573,12648225,12519221,12477932,12225333,12209365,11819535,11788900,11775239,11772516,11737038,10924276,10329130,9367687,9079628,9003765,8811196,8666937,8568858,7829535,7811265,1922385,1681432,1529427,1453454,1429565,16703666,15686587,16512786,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,10893419,12419264,19913121,20628086 5698 BX088556,CR762476,CR933844,AL669918,AL671681,AL935043,BX927138,CH471081,CR753889,X66401,X87344,Z14977,AI310206,AK303118,BC065513,BF513693,BI832878,BM998687,BX641100,CR541656,CR621193,S75169,U01025,X62741,NM_002800 CAA44603,P28065,Q5JNW4,NP_002791,CAI18141,CAM25486,CAM25487,CAI17715,CAM24981,CAI18627,CAM25803,CAQ08450,CAQ08453,EAX03653,EAX03654,CAQ10289,CAQ10291,CAA47024,CAA60784,CAA78700,BAG64224,AAH65513,CAG46457,AAC60646,AAC50154 Hs.654585,Hs.721140 LMP2|MGC70470|PSMB6i|RING12|beta1i OTTHUMP00000178622|OTTHUMP00000178623|low molecular mass protein 2|macropain chain 7|multicatalytic endopeptidase complex chain 7|proteasome catalytic subunit 1i|proteasome chain 7|proteasome subunit beta 6i|proteasome subunit beta type-9|proteasome subunit beta-1i|proteasome-related gene 2|proteosome (prosome, macropain) subunit, beta type 9|really interesting new gene 12 protein protein-coding 734425 PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq] 20562859,15831487,17148452,19060904,19490896,19615732,20379614,20424172,1429620,17353931,11285280,15029244,12791267,18029348,8811196,18701681,16189514,15489334,15358861,15144186,14743216,14702039,14614829,14578856,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11734547,11361004,10970867,10893419,10748218,10625621,9846577,9811770,9473509,9452483,9373149,9079628,8125298,6188845 5700 AL161662,AL355074,CH471061,AB451311,AB451441,AF401213,AK124201,AK222668,AK299121,AK313325,BC000512,BC016368,BC018859,BC067741,BC073818,BT009826,CR457044,CR590391,CR591570,CR592984,CR596533,CR596884,CR599996,CR601231,CR603948,CR606549,CR607057,CR612999,CR614875,CR620708,L02426,NM_002802 NP_002793,EAW81419,EAW81420,EAW81421,BAG70125,BAG70255,BAD96388,BAG61175,BAG36130,AAH00512,AAH16368,AAH67741,AAH73818,AAP88828,CAG33325,AAA35484,P62191,Q53HB3,Q53XL8,Q6NW36,ABM82629,ABM85807 Hs.356654 MGC24583|MGC8541|P26S4|S4|p56 26S protease regulatory subunit 4|26S proteasome AAA-ATPase subunit RPT2|protease (prosome, macropain) 26s subunit, atpase 1|proteasome 26S ATPase subunit 1|proteasome 26S subunit ATPase 1|proteasome 26S subunit, ATPase, 1 protein-coding 1348724 PSMC1P proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 151645 NG_001556,AC096922 bcm3415 protease (prosome, macropain) 26s subunit, atpase, 1 pseudogene pseudo 732979 PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. [provided by RefSeq] 1580863 12808465,12750511,12719574,12690205,12665801,12477932,12419264,12167863,11361004,11118327,11118325,10893419,10625621,10409732,9846577,9811770,9473509,9079628,8811196,8500623,7711076,1602151,1377363,11734547,16189514,16169070,8247132,9295362,17220478,17353931,11285280,15029244,12791267,16130169,16236267,15489334,15340068,15231748,14743216,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12970176,12920286,12914693,12859895,12853948,12840737,12830140,12809610,12808466,20562859,16341674,18029348,17148452,19412159,19490896,19615732 5701 NM_002803,AC004668,AC093701,CH236947,CH471070,AB075520,AK298821,AK312648,BC002589,BM754312,CR599744,CR602126,CR605145,CR618659,CR620729,CR624764,D11094 NP_002794,AAS07429,EAL24412,EAW83331,EAW83332,EAW83333,BAE45763,BAH12878,AAH02589,BAA01868,P35998,Q75L23,ABZ92232 Hs.437366 MGC3004|MSS1|Nbla10058|S7 26S protease regulatory subunit 7|26S proteasome AAA-ATPase subunit RPT1|OTTHUMP00000211710|mammalian suppressor of sgv-1 of yeast|protease 26S subunit 7|proteasome (prosome, macropain) 26s subunit, atpase 2|proteasome 26S subunit ATPase 2|proteasome 26S subunit, ATPase, 2|putative protein product of Nbla10058 protein-coding 732077 PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq] 1580863 17220478,17353931,8419915,2194290,11285280,15029244,12791267,8811196,19325002,17334400,16713569,15489334,15342556,15221960,14743216,14665636,14614829,14610662,14564014,14557625,14556007,9846577,9811770,9714759,9473509,9373149,9345291,9079628,9048938,8621709,8500623,8323548,8125298,16169070,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,14550573,12719574,12477932,12419264,12167863,11463857,10893419,10806355,10799514,10339605,17148452,17649721,18029348,19490896,19615732,19853614 5702 CR590202,CR590340,CR591886,CR597773,CR598777,CR598917,CR599967,CR600512,CR602415,CR605143,CR608235,CR608898,CR618622,CR619701,CR621417,CR624756,CR625636,M34079,AC090559,CH471064,AK222485,AK291896,AK313518,BC008713,BC073165,BC106920,BC107804,BP284685,CR456731,NM_002804 NP_002795,EAW67916,BAD96205,BAF84585,BAG36298,AAH08713,AAH73165,AAI06921,AAI07805,CAG33012,AAA36666,P17980,ABM83907,ABM87228 Hs.250758 MGC8487|TBP1 26S protease regulatory subunit 6A|26S proteasome AAA-ATPase subunit RPT5|TBP-1|Tat-binding protein 1|human immunodeficiency virus tat transactivator binding protein-1|proteasome (prosome, macropain) 26s subunit, atpase 3|proteasome 26S subunit ATPase 3|proteasome subunit P50 protein-coding 730859 PSMC3IP PSMC3 interacting protein 7490091,10806355,19325002,18941885,16407260,14702039,12477932,11739747,9345291 29893 FJ952183,U18921,NM_013290,AC067852,CH471152,AB030304,AF440240,AK126369,BC008792,CR594795,CR625144,FJ952179,FJ952180,FJ952181,FJ952182,NM_016556,GQ851964,GQ851965 ACR46657,ACR46658,Q9P2W1,NP_057640,NP_037422,EAW60846,EAW60847,EAW60848,EAW60849,EAW60850,BAA92872,AAL33609,AAH08792,ACR46654,ACR46655,ACR46656,ACX30903,ACX30904 Hs.383019 GT198|HOP2|HUMGT198A|TBPIP DBD-interacting|GT198 alternative|PSMC3-interacting protein|TBP-1 interacting protein|TBP-1-interacting protein|homologous-pairing protein 2 homolog|nuclear receptor coactivator GT198|proteasome 26S ATPase subunit 3-interacting protein|tat-binding protein 1-interacting protein protein-coding 1352639 PSMC3P proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene 9048938 5703 NG_002368,AL356000 pseudo 731556 PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with an orphan member of the nuclear hormone receptor superfamily highly expressed in liver, and with gankyrin, a liver oncoprotein. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 9473509,17353931,11285280,15029244,12791267,8603043,18446261,17327361,16189514,15489334,15057824,14614829,14564014,14557625,14550573,14528301,14528300,14527406,15604093,15831487,18029348,19412159,19490896,19615732,11779854,11463857,11361004,11042152,10893419,9846577,9811770,9714759,9079628,8500623,8419915,8323548,8076819,8060531,2194290,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,15773819,20937828,20562859 5704 NM_153001,AC007842,CH471126,AF020736,AF038965,AK290285,AK310135,AK313183,BC000343,BC010396,BC014488,BC018811,BT007232,CR591096,CR594223,CR597394,CR602157,CR603370,CR604327,CR606858,CR607304,CR611800,CR616731,CR619473,CR621309,CR622224,CR624681,CR624768,U27515,NM_006503 NP_006494,NP_694546,AAD39267,EAW56928,EAW56929,AAC32612,AAC26843,BAF82974,BAG36000,AAH00343,AAH10396,AAH14488,AAP35896,AAC99817,P43686,ABM82801,ABM85802 Hs.211594 MGC13687|MGC23214|MGC8570|MIP224|S6|TBP7 26S protease regulatory subunit 6B|26S proteasome AAA-ATPase subunit RPT3|MB67 interacting protein|MB67-interacting protein|TBP-7|Tat-binding protein 7|protease 26S subunit 6|proteasome 26S subunit ATPase 4 protein-coding 732741 PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. [provided by RefSeq] 9464850,20424172,19490896,20562859,7870181,11285280,16432160,15029244,12791267,9927201,19144644,18662994,18215421,17565987,17302910,16713569,16499872,16189514,15489334,14702340,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,12110588,11463857,10970867,10893419,10816420,10799514,10409732,9846577,9811770,9714759,9473509,9295362,9173976,9110174,9079628,9048938,8811196,8710853,8619474,8598193,8500623,8419915,8323548,7776974,7729537,2194290,18572193,11734547,11361004,12692129,17353931,15342556,16344560,15867431,16990800,17429597,18029348,19615732,19660582 5705 NM_002805,AC015651,CH471109,AF035309,AI193169,AK095836,AK098484,AK290758,AK291878,BC001932,BC002367,BC127888,BF245599,CR594383,CR595677,CR604202,CR606458,CR608855,CR610576,CR613856,CR614294,CR619795,CR621341,CR623587,CR626071,D44467,L38810,BP209525,DA056321,NM_001199163 NP_002796,EAW94269,EAW94270,EAW94271,EAW94272,AAB88187,BAF83447,BAF84567,AAH01932,AAH02367,BAA07919,AAC41735,P62195,ABM83122,ABM86317,NP_001186092 Hs.79387 S8|SUG-1|SUG1|TBP10|TRIP1|p45|p45/SUG 26S protease regulatory subunit 8|26S proteasome AAA-ATPase subunit RPT6|MSUG1 protein|Tat-binding protein homolog 10|for proteasomal atpase (sug1)|proteasome 26S ATPase subunit 5|proteasome 26S subunit ATPase 5|proteasome subunit p45|thyroid hormone receptor-interacting protein 1|thyroid receptor interactor 1 protein-coding 1318819 PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq] 20478047,9464850,11590019,11285280,15029244,12791267,10419517,16501559,16341674,16189514,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12499840,12477932,12419264,12167863,15489334,10893419,10363644,9846577,9811770,9473509,9079628,8811196,8674546,8621709,17353931,11361004,11734547,15831487,17148452,19412159,19490896,19615732 5706 CR622035,CR623246,CR624028,D78275,NM_002806,AL133453,CH471078,CQ840920,AA846884,AF006305,AK127456,AK307087,AK313670,BC005390,BM788029,BP384173,BT006843,CR456709,CR590720,CR595318,CR597261,CR602871,CR608774,CR611308,CR615895,CR617697,CR621047,AK299155 BAA11338,P62333,ABM84630,NP_002797,EAW65645,CAH05701,AAB61616,BAG36422,AAH05390,AAP35489,CAG32990,BAG61203 Hs.156171 CADP44|MGC12520|P44|SUG2|p42 26S protease regulatory subunit 10B|26S protease regulatory subunit S10B|26S proteasome AAA-ATPase subunit RPT4|conserved ATPase domain protein 44|proteasome 26S subunit ATPase 6|proteasome subunit p42 protein-coding 1343106 PSMC6P proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene 15262430 266723 NG_002379,AC046176 PSMC6P pseudo 2291756 PSMC6P2 proteasome 26S subunit, ATPase, 6 pseudogene 2 160410 NG_001564,AC008033 pseudo 2293178 PSMC6P3 proteasome 26S subunit, ATPase, 6 pseudogene 3 100128218 NG_007662,AC139783 pseudo 734088 PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. [provided by RefSeq] 1580863 19913121,20628086,20936779,17353931,11285280,15029244,12791267,8811196,8816993,18534977,16964243,16737963,16501559,16097034,15815621,15489334,15302935,15231748,14743216,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,10893419,10671488,9846577,9811770,9079628,16344560,8889549,11361004,16990800,17429597,19615732,20379614 5707 CR593284,CR620040,D44466,AC009407,CH471063,AK307415,AK307513,AK312528,BC001053,BC007535,BC014013,BC020223,BC032445,BC039845,BC047897,BC064398,BC073833,BC094720,BC112344,BC114434,NM_002807,AA169719,DA385817,NM_001191037,NR_034059 AAI14435,BAA07918,Q05BX4,Q05CW6,Q99460,NP_002798,AAX93127,EAW70947,EAW70948,BAG35427,AAH01053,AAH14013,AAH20223,AAH32445,AAH39845,AAH47897,AAH64398,AAH73833,AAH94720,AAI12345,NP_001177966 Hs.3887 MGC133040|MGC133041|P112|Rpn2|S1 26S proteasome non-ATPase regulatory subunit 1|26S proteasome regulatory subunit RPN2|26S proteasome regulatory subunit S1|26S proteasome subunit p112|26s proteasome, subunit p112|OTTHUMP00000204737 protein-coding 736379 PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20. [provided by RefSeq] 1580863 19901563,20628200,12525503,17353931,15029244,12791267,18029348,8811196,9714768,19513507,19287195,19235584,18813787,18332869,18161051,18040287,17935131,17904523,17881001,15910504,15772651,15489334,15379554,15221469,14997555,14614829,14573599,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12174370,12167863,11779854,10893419,9846577,9811770,9079628,9009162,16189514,16023600,20371329,20483533,10613832,11900540,19412159,19490896,19615732,19729910,19736567,20479760,11285280 5716 NM_170750,NG_012521,AL031177,CH471120,AB009619,AK058108,AK295996,AK309326,AY057056,BC011960,BQ217943,BT019689,CR598807,CR602434,CR606287,CR609521,CR610422,CR622885,D83197,NM_002814,GM044604 NP_736606,CAA20117,CAI43131,CAI43132,CAI43133,CAI43134,CAI43135,EAX02697,EAX02698,BAA33215,BAG58771,AAL25260,AAH11960,AAV38495,BAA34594,O75832,Q5U0B2,Q8IZK9,ACT64478,ACT64479,NP_002805,CAV33747 Hs.522752 dJ889N15.2|p28|p28(GANK) 26S proteasome non-ATPase regulatory subunit 10|26S proteasome regulatory subunit p28|OTTHUMP00000023830|OTTHUMP00000023831|ankyrin repeat protein|gankyrin|hepatocellular carcinoma-associated protein p28-II protein-coding 1343089 PSMD10P1 proteasome 26S subunit, non-ATPase, 10 pseudogene 1 170541 NG_001050,AL034553 PSMD10P|dJ914P20.4 pseudo 2290507 PSMD10P2 proteasome 26S subunit, non-ATPase, 10 pseudogene 2 280644 NG_002417,AC112907 pseudo 2291755 PSMD10P3 proteasome 26S subunit, non-ATPase, 10 pseudogene 3 338091 NG_002627,AL354720 pseudo 1315074 PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. [provided by RefSeq] 1580863 17353931,11285280,15029244,12791267,9119060,17081983,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,15231748,19596235,19615732,19616115,12477932,12419264,12185077,12167863,10893419,9846577,9811770,9426256,9373149,9079628,8811196,8125298,1317798,16169070,12719574,12665801 5717 AK290602,AK300342,BC000437,BC004430,CR590971,CR597146,CR600771,CR611950,CR621748,NM_002815,AC005899,AC079336,CH471147,AB003102,AF001212,AK093602,AK223196 BAF83291,BAG62087,AAH00437,AAH04430,O00231,Q53FT5,NP_002806,EAW80229,EAW80230,BAA19748,AAB58732,BAD96916 Hs.655396 MGC3844|Rpn6|S9|p44.5 26S proteasome non-ATPase regulatory subunit 11|26S proteasome regulatory subunit 9|26S proteasome regulatory subunit RPN6|26S proteasome regulatory subunit S9|26S proteasome regulatory subunit p44.5 protein-coding 1348717 PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. [provided by RefSeq] 1580863 17353931,11285280,15029244,12791267,19615732,15489334,14743216,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,9426256,16501559,12808465,12750511,12719574,12665801,12477932,12419264,12167863,10893419,9846577,9811770,9373149,9079628,8811196,8125298,1317798 5718 NM_002816,NM_174871,AC110921,CH471099,AB003103,AK091198,AK222679,AK307821,AK308883,BC019062,BC065826,CR603290,CR621959 NP_002807,NP_777360,EAW89026,EAW89027,EAW89028,EAW89029,BAA19749,BAG52303,BAD96399,AAH19062,AAH65826,O00232,ABM83747,ABM87066 Hs.592689 MGC75406|Rpn5|p55 26S proteasome non-ATPase regulatory subunit 12|26S proteasome regulatory subunit RPN5|26S proteasome regulatory subunit p55 protein-coding 2291786 PSMD12P proteasome 26S subunit, non-ATPase, 12 pseudogene 317753 NG_002463,AC114876 pseudo 1313146 PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq] 1580863 17353931,11285280,15029244,12791267,8811196,9714768,17059877,16501559,15489334,14743216,14702039,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11042152,10893419,10393949,10225435,9846577,9811770,9373149,9079628,8125298,14550573,19615732 5719 NM_175932,AC136475,AF261927,CH471278,AA931044,AB009398,AF083245,AF086708,AF107836,AF107837,AK092845,AK094775,NM_002817,AK222895,AK295944,AK307447,AK314733,AL556906,BC001100,BC001747,BM456586,BT007307,BX647314,CR590692,CR593555,CR593850,CR594050,CR594908,CR597589,CR598910,CR600680,CR601204,CR603732,CR604346,CR604655,CR610599,CR612824,CR614879,CR615813,CR616657,CR618920 NP_002808,NP_787128,EAW61234,EAW61235,EAW61236,EAW61237,EAW61238,BAA33214,AAD39843,AAC64104,AAD43441,AAD43442,BAG52927,BAD96615,BAG58728,BAG37274,AAH01100,AAH01747,AAP35971,CAI46009,Q53GN6,Q5HYL3,Q9UNM6,Q9UNM7,Q9Y6E3,ABM83097,ABM86291 Hs.134688 HSPC027|Rpn9|S11|p40.5 26S proteasome non-ATPase regulatory subunit 13|26S proteasome regulatory subunit RPN9|26S proteasome regulatory subunit S11|26S proteasome regulatory subunit p40.5|26S proteasome subunit p40.5 protein-coding 1315018 PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 PSMD14 is a component of the 26S proteasome, a multiprotein complex that degrades proteins targeted for destruction by the ubiquitin pathway (Spataro et al., 1997 [PubMed 9374539]).[supplied by OMIM] 1580863 17353931,11285280,15029244,12791267,9374539,18029348,19214193,17237285,16569633,16344560,15592455,15489334,14737182,14702039,12477932,18162577,19412159,19419512,19615732,19732767 10213 NM_005805,AC009299,AC009487,CH471058,AB209220,AK055128,BC009524,BC066336,CR595585,CR606475,CR615752,CR617325,DA133201,U86782 NP_005796,AAX88940,AAY15016,EAX11370,BAD92457,BAG51474,AAH09524,AAH66336,AAC51866,O00487,Q4ZG77,Q53TH1,Q59G89,Q96DE8 Hs.567410 PAD1|POH1|RPN11 26S proteasome non-ATPase regulatory subunit 14|26S proteasome regulatory subunit rpn11|26S proteasome-associated PAD1 homolog 1 protein-coding 1350425 PSMD15 proteasome (prosome, macropain) 26S subunit, non-ATPase, 15 10830953 54035 NG_002723,AP000695,AP001726 PSMD15|PSMD4P pseudo 1313972 PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. 1580863 16169070,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12692129,12477932,12419264,12167863,10893419,10625621,9846577,9811770,9126987,9079628,7639698,7601280,17353931,11734547,16990800,17220478,18544348,19060904,19615732,19626040,19638347,19815544,19881955,11278995,11285280,15029244,12791267,8811196,8774743,18337449,17081983,16189514,20562859,20800603 5708 AC078797,CH471052,AB209843,AK095245,AK315474,AL162014,BC002368,BC002997,BC007897,BT009736,CR600526,CR604292,CR620212,D78151,U12596,U18247,X86446,NM_002808,AK297256,AK301759,AK302177 NP_002799,EAW78270,EAW78271,EAW78272,BAD93080,CAB82366,AAH02368,AAH02997,AAH07897,AAP88738,BAA11226,AAA87705,AAA57339,CAA60167,Q13041,Q13200,BAG59734,BAG63219,BAG63543,Q53XQ4,Q59EG8,Q9NSM5 Hs.518464 MGC14274|P97|Rpn1|S2|TRAP2 26S proteasome non-ATPase regulatory subunit 2|26S proteasome regulatory subunit RPN1|26S proteasome regulatory subunit S2|26S proteasome subunit p97|55.11 protein|OTTHUMP00000210628|OTTHUMP00000210629|TNFR-associated protein 2|protein 55.11|tumor necrosis factor receptor-associated protein 2|tumor necrosis factor type 1 receptor-associated protein 2 protein-coding 2306587 PSMD2P1 proteasome 26S subunit, non-ATPase, 2 pseudogene 1 266783 NG_002387,AL359918 pseudo 1322945 PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. [provided by RefSeq] 1580863 17353931,11285280,15029244,12791267,8811196,15489334,14743216,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,10893419,9846577,9811770,9079628,9017604,19615732,20172861 5709 NM_002809,AC090844,CH471152,AF091075,AK022896,AK054611,AK055358,AK055799,AK094206,AK293539,AK298411,AK300973,BC000074,BC004859,BC012302,BC020518,BC025686,BT007217,CR456772,CR603532,CR611998,D67025,AK300081 NP_002800,EAW60625,AAC72944,BAG51131,BAG51399,BAB71019,BAC04310,BAG57021,BAG60639,BAG62596,AAH00074,AAH04859,AAH12302,AAH20518,AAH25686,AAP35881,CAG33053,BAA23651,O43242,O95325,Q6IBN0,Q8N9M2,Q96N86,BAG61884 Hs.12970 P58|RPN3|S3|TSTA2 26S proteasome non-ATPase regulatory subunit 3|26S proteasome regulatory subunit RPN3|26S proteasome regulatory subunit S3|proteasome subunit p58|tissue specific transplantation antigen 2 protein-coding 734297 PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq] 14557549,14550573,14528301,14528300,14527406,12970355,12970176,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11827521,11585840,11146632,10921894,10893419,10799514,10505793,10488153,9846577,9811770,9488668,9235903,9079628,8641424,7657640,20417181,17353931,17662948,17891176,11285280,15029244,12791267,8811196,18632645,18207252,17949686,17459097,17408689,16762342,16710414,16189514,15826667,15489334,15345747,15340068,14759258,14614829,14585839,14564014,14557625,3524692,16227581,16759355,16799550,16862145,20029029,20936779,16990800,17082820,17327906,19387488,19412159,19519434,19615732,19683493,19875440 5710 NM_002810,AL391069,AL592424,CH471121,AB033605,BC002365,BC072008,CR595476,CR608712,CR609650,CR611554,CR616606,CR618635,CR622014,CR626776,U24704,U72664 NP_002801,CAH70329,CAH70330,CAO72151,CAO72168,CAI16389,CAI16390,CAO72046,CAO72047,EAW53455,EAW53456,EAW53457,EAW53458,BAA97581,AAH02365,AAH72008,AAB54057,AAB68598,P55036,Q5VWC4 Hs.505059 AF|AF-1|ASF|MCB1|Rpn10|S5A|pUB-R5 26S protease subunit S5a|26S proteasome non-ATPase regulatory subunit 4|26S proteasome regulatory subunit RPN10|26S proteasome regulatory subunit S5A|RPN10 homolog|S5a/antisecretory factor protein|angiocidin|antisecretory factor 1|multiubiquitin chain binding protein|multiubiquitin chain-binding protein|proteasome (prosome, macropain) 26s subunit, non-atpase,4 protein-coding 1318199 PSMD5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator base. [provided by RefSeq] 1580863 11285280,15029244,12791267,18029348,8811196,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12665801,12477932,12419264,12167863,10893419,10625621,9846577,9811770,9079628,8125911,7584044,17148452,19217412,19412159,19490896,16341674,7559544,1317798,16189514 5711 NM_005047,AL161911,CH471090,AK001065,AK026925,AK291051,AK303007,BC014478,BM835267,D31889,S79862 NP_005038,CAI95117,CAI95118,EAW87471,BAF83740,BAG64140,AAH14478,BAA06687,AAB35397,Q16401,ABM83011,ABM86205 Hs.193725 KIAA0072|MGC23145|S5B 26S protease subunit S5 basic|26S proteasome non-ATPase regulatory subunit 5|26S proteasome subunit S5B protein-coding 1351950 PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 12808465,12750511,12719574,12167863,9846577,9811770,10893419,9079628,12419264,14550573,12692129,10723133,17353931,11285280,15029244,12791267,15489334,14743216,14702039,12477932,7788527,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,16424905,19596235,19615732,16227581 9861 AC012557,CH471055,AF215935,AF530062,AK055210,AK095059,AK290205,AL832109,AY359879,AY568086,BC000630,BC000904,NM_014814,BC012369,BX647742,CR591251,CR591399,CR591954,CR593438,CR602355,CR606536,CR609059,CR614166,D14663 NP_055629,EAW65424,EAW65425,EAW65426,EAW65427,AAF65540,AAQ09946,BAG52978,BAF82894,AAQ63402,AAS68366,AAH00630,AAH00904,AAH12369,BAA03497,Q15008,Q6UV22 Hs.152536 KIAA0107|Rpn7|S10|SGA-113M|p44S10 26S proteasome non-ATPase regulatory subunit 6|26S proteasome regulatory subunit RPN7|26S proteasome regulatory subunit S10|OTTHUMP00000213407|breast cancer-associated protein SGA-113M|p42A|phosphonoformate immuno-associated protein 4|proteasome regulatory particle subunit p44S10 protein-coding 1315780 PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. 1580863 20643764,17353931,11285280,15029244,12791267,8811196,7755639,17559875,17028202,16842755,16396496,15489334,15383276,15221960,14743216,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12944474,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12368243,12237292,12167863,10893419,9846577,9811770,9520381,9079628,6188845,2209467,11734547,16169070,19615732,19844255,16227581,17207965 5713 NM_002811,AC009120,CH471166,AK315381,BC000338,BC012606,BM989341,BU601564,CR595724,CR597005,CR599542,CR600117,CR601507,CR616820,CR620737,D50063,AK301996 NP_002802,EAW59162,EAW59163,BAG37774,AAH00338,AAH12606,BAA08780,P51665,BAG63400,ADQ32347 Hs.440604 MOV34|P40|Rpn8|S12 26S proteasome non-ATPase regulatory subunit 7|26S proteasome regulatory subunit S12|26S proteasome regulatory subunit rpn8|Moloney leukemia virus-34 proviral integration|Mov34 homolog|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)|proteasome subunit p40 protein-coding 1350935 PSMD7L proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 like 280637 NG_002412,AC006120 MOV34L|PSMD7L pseudo 1320403 PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq] 1580863 14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11163772,10893419,9846577,9811770,9079628,17353931,11285280,15029244,12791267,18029348,8811196,7621825,16885229,15489334,15342556,15231748,15057824,14614829,14564014,14557625,14550573,14528301,14528300 5714 AC005789,CH471126,AK301771,AK304486,AK308809,BC001164,BC065006,BC071826,BI560993,BP369299,BQ684248,BT019688,CR590029,CR590093,CR595613,CR595906,CR606879,CR618879,D38047,NM_002812 NP_002803,AAC62833,EAW56785,BAG63230,BAG65296,AAH01164,AAH65006,AAV38494,BAA07237,P48556,Q5U0B3 Hs.78466 HIP6|HYPF|MGC1660|Nin1p|Rpn12|S14|p31 26S proteasome non-ATPase regulatory subunit 8|26S proteasome regulatory subunit RPN12|26S proteasome regulatory subunit S14|26S proteasome regulatory subunit p31 protein-coding 737461 PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. [provided by RefSeq] 1580863 10567574,11285280,16099819,15029244,16293776,12791267,9653651,19118035,19041685,18838534,18701138,18694622,18504423,17516568,17360176,16189514,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12778072,12750511,12719574,12477932,12419264,12167863,11940657,10893419,10799514,9846577,9811770,9079628,8811196,20878082,17409098,19490896,19657726,19877155,20069546 5715 NM_002813,AC069503,CH471054,CQ840923,AK055339,AK315389,BC002383,BC004184,BC004213,BI832046,BU956605,CR624376,FB353533 NP_002804,EAW98293,EAW98294,EAW98295,EAW98296,EAW98297,CAH05702,BAG37782,AAH02383,AAH04184,AAH04213,O00233,ABM84520,ACE87119,ACE86443,CAR82351 Hs.131151 MGC8644|Rpn4|p27 26S proteasome non-ATPase regulatory subunit 9|26S proteasome regulatory subunit p27|homolog of rat Bridge 1|proteasome 26S non-ATPase regulatory subunit 9 protein-coding 733032 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Two transcripts encoding different isoforms have been identified. [provided by RefSeq] 1580863 11285280,15029244,12791267,16130169,18029348,8811196,19225532,17939699,17719568,17671684,16169070,15489334,14760793,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12519221,12477932,12419264,12200048,12167863,10893419,10799514,10199920,9846577,9811770,9590240,9403698,9394799,9385652,9344661,9287111,9079628,8889548,8663520,8269930,8051173,7789512,1286667,16189514,12755701 5720 NM_176783,NM_006263,AB007137,AF078829,AL136295,CH471078,U10360,AK311490,AK312211,BC000352,BC007503,BT019337,BU731923,BX248293,CR456780,CR541658,CR593193,CR594470,CR614004,CR622317,DQ185047,L07633 NP_788955,NP_006254,BAA28836,AAF02217,EAW66105,EAW66106,AAA53230,BAG35144,AAH00352,AAH07503,AAV38144,CAD62621,CAG33061,CAG46459,AAA16521,Q06323,Q6FHU3,Q6IBM2,Q86SZ9,ABM82764,ABM85950 Hs.75348 IFI5111|MGC8628|PA28A|PA28alpha|REGalpha 11S regulator complex alpha subunit|11S regulator complex subunit alpha|29-kD MCP activator subunit|IGUP I-5111|OTTHUMP00000164702|REG-alpha|activator of multicatalytic protease subunit 1|interferon gamma up-regulated I-5111 protein|interferon-gamma IEF SSP 5111|interferon-gamma-inducible protein 5111|protease (prosome, macropain) 28 subunit, alpha|proteasome activator 28 subunit alpha|proteasome activator complex subunit 1|proteasome activator subunit-1 protein-coding 733724 PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. 69948,1580863 11285280,15029244,12791267,8811196,16189514,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12519221,12477932,12419264,12200048,12167863,10893419,10799514,10199920,9846577,9840465,9811770,9620878,9373149,9344661,9079628,8663520,8125298,7989312,7789512,1429590 69948 5721 NM_002818,AF079558,AL136295,CH471078,AK026580,AK225876,AK311569,AY771595,BC004368,BC019885,BC072025,BX161498,CR541657,CR541743,CR594185,CR600073,CR601043,CR615548,CR618033,CR620148,D45248 NP_002809,AAF02218,EAW66100,EAW66101,AAX11425,AAH04368,AAH19885,AAH72025,CAD61943,CAG46458,CAG46543,BAA08205,Q2TNB3,Q6FHK9,Q86SZ7,Q9UL46,ABM84330,ABM87721 Hs.434081,Hs.512410 PA28B|PA28beta|REGbeta 11S regulator complex beta subunit|11S regulator complex subunit beta|MCP activator, 31-kD subunit|REG-beta|activator of multicatalytic protease subunit 2|cell migration-inducing protein 22|protease (prosome, macropain) 28 subunit, beta|proteasome activator 28 subunit beta|proteasome activator 28-beta|proteasome activator complex subunit 2|proteasome activator hPA28 subunit beta protein-coding 1351981 PSME2P1 proteasome activator subunit 2 pseudogene 1 257093 AC134821,NG_002626,AC116347 PSME2P pseudo 2290518 PSME2P2 proteasome activator subunit 2 pseudogene 2 338099 NG_002632,AL139182 pseudo 2290520 PSME2P3 proteasome activator subunit 2 pseudogene 3 9847074 338095 NG_002628,AC093700 pseudo 2291754 PSME2P4 proteasome activator subunit 2 pseudogene 4 9847074 338096 NG_002629,AC021106 pseudo 2291753 PSME2P5 proteasome activator subunit 2 pseudogene 5 338097 NG_002630,AC015743 pseudo 2291752 PSME2P6 proteasome activator subunit 2 pseudogene 6 338098 NG_002631,AL157831 pseudo 1315927 PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq] 9840465,9811770,9590240,9403698,9344661,9218537,9079628,7951316,7675458,7545954,1968796,17353931,16439211,17327906,17588519,19556897,19596235,19615732,19656465,20494959,20719955,16169070,11285280,15029244,12791267,8811196,19091860,18343811,18321762,18309296,18235248,17088425,16713569,16303743,16189514,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12784391,12750511,12719574,12477932,12419264,12167863,11859414,10893419,9846577,14702039,20683941 10197 NM_176863,NM_005789,AC016889,CH471152,CQ782983,U25756,AK057221,AK074999,AK292618,AK303211,AK307110,AK314347,BC001423,BC002684,BC008020,BG708969,BQ005550,BT019386,BX640801,CR541745,CR592701,CR596217,CR610201,CR616858,CR622935,U11292 NP_789839,NP_005780,EAW60891,EAW60892,EAW60893,EAW60894,CAF86206,AAA93227,BAG51887,BAG52046,BAF85307,BAH13919,AAH01423,AAH02684,AAH08020,AAV38193,CAE45884,CAG46545,P61289,Q6FHK7,Q6MZZ1,ABM82856,ABM86043,AAB60335 Hs.152978 Ki|PA28-gamma|PA28G|REG-GAMMA 11S regulator complex gamma subunit|11S regulator complex subunit gamma|Ki antigen|Ki nuclear autoantigen|PA28gamma|activator of multicatalytic protease subunit 3|proteasome activator 28 subunit gamma|proteasome activator 28-gamma|proteasome activator complex subunit 3 protein-coding 1345096 PSME4 proteasome (prosome, macropain) activator subunit 4 1302306 9079628,17523843,16344560,15489334,12477932,12093752,7584044,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,10893419,20379614,12419264,14550573,11285280,12791267 1302306 23198 NM_014614,AC008068,CH471053,AA884260,AK025517,AK026085,AK124923,AL045471,AL599601,AU117034,AY894754,AY894755,AY894756,BC017090,BC032418,BC043602,BC062760,BC071768,BC112169,BC113668,BC143737,BC143739,BQ898809,BU569553,CR601796,D38521 NP_055429,EAX00161,AAX83869,AAX83870,AAX83871,AAH43602,AAH71768,AAI12170,AAI13669,BAA07526,Q14997 Hs.413801 FLJ21864|KIAA0077|MGC138374|MGC142228|PA200 proteasome activator 200 kDa|proteasome activator PA200|proteasome activator complex subunit 4 protein-coding 1345633 PSMF1 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq] 1580863 16000308,16189514,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12374861,12167863,11780052,10893419,10363639,9846577,9811770,9110174,9079628,8619474,16146763,16046164,16035254,15638724,15183343,15139295,10764772,16713569,11285280,15029244,12791267,18495667,16344560 9491 BC126127,BC126462,BI461198,BI830805,CR592856,CR600493,D88378,DA949012,DB028624,BC029836,NM_006814,AL031665,CH471133,AA885338,AF055032,AK098612,AK294134,AK300667,AK302164,NM_178578 AAI26463,BAA13603,Q5QPM4,Q5QPM7,Q5QPM9,Q92530,NP_848693,NP_006805,CAC10383,CAI21752,CAI21754,CAI21757,EAX10649,EAX10650,EAX10651,BAG57462,BAG62352,BAG63531,ADR82919 Hs.471917 PI31 OTTHUMP00000029952|hPI31|proteasome inhibitor PI31 subunit|proteasome inhibitor hP131 subunit protein-coding 1313491 PSMG1 proteasome (prosome, macropain) assembly chaperone 1 1580863 16712791,20062062,16251969,15670775,15590417,18793612,18758464,17189198,15489334,14702039,12477932,10872820,10830953,9784380 8624 NM_203433,NM_003720,AF129408,AL163279,CH471079,AB451468,AF417108,AJ006291,AK001455,AK308614,AK315406,AY463963,BC003619,BC010424,BC011755,BC012809,BM013494,BM460414,BM476420,BQ008489,BR000236,CB160221,CR541821,CR541852,CR605754,CR605957,CR622115,CR624273 NP_982257,NP_003711,CAB90451,EAX09664,EAX09665,EAX09666,BAG70282,CAA06957,BAG37798,AAR25628,AAH03619,AAH10424,AAH11755,AAH12809,FAA00022,CAG46620,CAG46650,O95456,ABM83237,ABM86437 Hs.473838 C21LRP|DSCR2|LRPC21|PAC1 Down syndrome critical region gene 2|Down syndrome critical region protein 2|PAC-1|chromosome 21 leucine-rich protein|leucine rich protein C21-LRP|proteasome assembling chaperone 1|proteasome assembly chaperone 1 protein-coding 1312554 PSMG2 proteasome (prosome, macropain) assembly chaperone 2 1580863 17207965,16251969,18174230,17189198,14702039,12477932,12147697,11854909,9373149,8125298,16169070,17554260,17554300,18978792 56984 BF668035,NM_147163,AP005482,CH471113,EF445040,AF068295,AF161378,AF168712,AF276707,AK025410,AK057005,AK225882,BC013356,BR000237,CR457181,CR592839,CR596477,CR599075,CR604508,CR604839,CR617853,NM_020232 ADQ31875,NP_671692,NP_064617,EAX01540,EAX01541,EAX01542,ACA06090,AAF65184,AAF28938,AAF87314,AAK69439,BAG51841,AAH13356,FAA00023,CAG33462,Q969U7,Q9NRV1,Q9P0C1,Q9P1R6 Hs.464652 CLAST3|HCCA3|HsT1707|MDS003|MGC15092|PAC2|TNFSF5IP1 CD40 ligand-activated specific transcript 3|HDCMC29P|HSPC260|PAC-2|hepatocellular carcinoma susceptibility protein|hepatocellular carcinoma-susceptibility protein 3|likely ortholog of mouse CD40 ligand-activated specific transcript 3 (Clast3)|proteasome assembling chaperone 2|proteasome assembly chaperone 2|tumor necrosis factor superfamily member 5-induced protein 1|tumor necrosis factor superfamily, member 5-induced protein 1|x 003 protein protein-coding 1601948 PSMG3 proteasome (prosome, macropain) assembly chaperone 3 17189198,16341674,15489334,15146197,12853948,12690205,12477932,17207965 84262 BC004308,BC027171,BM825255,BR000337,CN261807,CR615571,NM_001134340,NM_032302,AC093734,CH236953,CH471144 AAH04308,AAH27171,FAA00325,Q9BT73,ADQ32854,NP_001127812,NP_115678,AAP21867,EAL23945,EAW87212,EAW87213 Hs.446311 C7orf48|MGC10911|PAC3 PAC-3|hPAC3|proteasome assembling chaperone 3|proteasome assembly chaperone 3 protein-coding 1347146 PSMG4 proteasome (prosome, macropain) assembly chaperone 4 17707236,16344560,16341674,15146197,14702039 389362 NM_001128592,NM_001128591,NM_001135750,AL445309,CH471087,AA948231,AK092793,AK095683,AK096543,AK125314,AK126623,AL389983,BM738331,BM846556,BX648600,CN429483,DA093618 NP_001122064,NP_001122063,NP_001129222,CAI40954,CAI40955,CAI40957,EAW55130,EAW55131,Q5JS54 Hs.207069 C6orf86|PAC4|bA506K6.2 OTTHUMP00000221166|OTTHUMP00000221167|PAC-4|hPAC4|proteasome assembly chaperone 4 protein-coding 1346105 PSORS1 psoriasis susceptibility 1 9158158 5674 1343678 PSORS1C1 psoriasis susceptibility 1 candidate 1 20139978,19851445,20041166,19115949,18976687,16029332,15708881,15301859,12930300,12477932,10545595 170679 BI825917,CR759805,CR936880,DB454051,NG_021348,AI243345,NM_014068,AB088114,AB202103,AL662844,AL662867,AL773544,BA000025,BX927139,CH471081,CR753819,CR759815,CR938714,AB031479,AF484418,AF484419,BC104870 NP_054787,BAC54950,BAE78626,CAI18324,CAI17720,CAI18480,BAB63314,CAQ10502,EAX03357,CAQ10591,CAQ07079,CAQ08650,BAA88130,AAO49375,AAO49376,AAI04871,Q2L6G9,Q2M3K9,Q5SQ84,Q9UIG5 Hs.310958 C6orf16|MGC132530|SEEK1 hypothetical protein LOC170679|psoriasis susceptibility 1 candidate 1|psoriasis susceptibility 1 candidate gene 1 protein protein-coding 1349813 PSORS1C2 psoriasis susceptibility 1 candidate 2 15523160,12930300,12823445,10545595,8999895,19851445 170680 NM_014069,AB088114,AB202103,AL662844,AL662867,AL773544,AP000510,BX927139,CH471081,CR753819,CR759815,AB031480,AF484420 NP_054788,BAC54949,BAE78627,CAI18325,CAI17721,CAI18481,BAB63315,CAQ10503,EAX03359,CAQ10592,CAQ07080,BAA88131,AAO49377,Q5SQ83,Q9UIG4,AAI72314 Hs.146824 C6orf17|SPR1 psoriasis susceptibility 1 candidate gene 2 protein protein-coding 1353176 PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 16965413,15848982,21051598 100130889 NR_026816,AL662833,AL662844,AL773544,BX088580,CR388229,CR759815,CR847794,AY484516 AAS49640 Hs.670091 AB023059.1|NCRNA00196 miscrna 1342831 PSORS2 psoriasis susceptibility 2 8178173 5722 1352840 PSORS3 psoriasis susceptibility 3 8841203 7889 1349574 PSORS4 psoriasis susceptibility 4 9886260,11348461 10547 1344041 PSORS5 psoriasis susceptibility 5 737840 10573011 737840 63870 1350897 PSORS7 psoriasis susceptibility 7 94006 1354250 PSORS8 psoriasis susceptibility 8 9259283 140454 1320843 PSPC1 paraspeckle component 1 1580863 16148043,16344560,15635413,15342556,14702039,12477932,11790299,16169070,12810069,15140795 55269 NR_003272,NM_001042414,AL354808,CH471075,AF448795,AF449627,AK001817,AK301554,AL834505,BC014184,BP225439,BQ685330,CB214993,CR457272,CX759783,DA644474 NP_001035879,CAI41004,CAI41005,EAX08232,EAX08233,EAX08234,AAL59601,AAL59602,BAA91924,BAG63050,CAD39162,AAH14184,CAG33553,Q8WXF1,ABM83605,ABM86848 Hs.213198 DKFZp566B1447|FLJ10955|PSP1 paraspeckle component 1|paraspeckle protein 1 protein-coding 1318726 PSPH phosphoserine phosphatase The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq] 1580863,2308873 9188776,17353931,15489334,15291819,14702039,14673469,12477932,12213811,11752790,10567362,9603909,9373149,9222972,8125298,6297855,6249179,6297854,2851960,1965857,1964582,17207965,12777757 2308873 5723 NM_004577,NG_011473,AC092579,CH471140,AK054677,AK126156,AK223508,AK315235,AW574794,BC052958,BC063614,BX537439,CR592060,CR623342,CR625244 NP_004568,EAX07968,EAX07969,EAX07970,EAX07971,BAD97228,BAG37662,AAH63614,CAD97681,P78330,Q53EY1,ADQ32586 Hs.512656 PSP L-3-phosphoserine phosphatase|O-phosphoserine phosphohydrolase|OTTHUMP00000209324|OTTHUMP00000209327|PSPase|phosphoserine phosphatase protein-coding 1345700 PSPHL phosphoserine phosphatase-like This gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq] 1580863 9573387,12477932 8781 NG_009001,AC091812,AJ001612,BC065228 CAA04865,O15172 CO9 pseudo 736997 PSPN persephin The protein encoded by this gene is a neurotrophic factor, belonging to the GDNF family. Neurotrophic factors are important for the proper development and maintenance of the nervous system. These factors promote neuronal survival and can prevent the neuronal degeneration associated with injury, toxin exposure, or neurodegenerative disease. The encoded protein has amino acid similarity to its other family members, glial cell line-derived neurotrophic factor and neurturin. This gene product promotes the survival of ventral midbrain dopaminergic neurons in culture and prevents their degeneration after 6-hydroxydopamine treatment in vivo. [provided by RefSeq] 1580863 9491986,18970938,15829225,15225646,14702039,11116144,10380959,10072588,9740802,20350599 5623 NM_004158,AC011491,CH471139,AF040962,AK055490 NP_004149,EAW69100,EAW69101,AAC39640,O60542,AAI52718,AAI56564 Hs.248159 PSP persephin protein-coding 1606488 PSRC1 proline/serine-rich coiled-coil 1 This gene encodes a proline-rich protein. Studies of the related mouse gene suggest that this gene is regulated by p53 and may participate in p53-mediated growth suppression. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 12427559,19336575,19299407,19198609,19065533,19060910,19060906,18793611,18649068,18411309,18291097,18262040,18193044,18193043,18179892,17634449,16964243,16710414,15498874,15489334,14702039,12477932,10618717,17207965,20738937,20971364,21087763,19060911,19487539,19656773,19660754,19738423,19955471,20031591,20117088,20167577,20237496,20370913,20442857,19913121,20549515,20570916,20628086,20679960,20694560,20339536 84722 NM_001032291,NM_001005290,NM_032636,AF322891,AL390252,CH471122,AF223000,AF447874,AK126567,AK289593,BC056909,BE206101,BF984061,BQ448200,BX649139,CR590786,CR590881,CR596962,CR598811,CR616373,CR617198,CR623580,CR624502,CR625810,BI857497,BJ992594 NP_001027462,NP_001005290,NP_116025,AAN73434,CAI13172,CAI13173,CAI13176,CAI13177,EAW56373,EAW56374,EAW56375,EAW56376,EAW56377,AAN73431,AAQ04649,BAC86599,BAF82282,AAH56909,Q5T2Z0,Q5T2Z1,Q6PGN9,ADQ32603,CAI13174 Hs.405925 DDA3|FP3214|MGC1780|RP11-297O4.2 OTTHUMP00000013789|OTTHUMP00000013790|OTTHUMP00000205834|differential display and activated by p53|p53-regulated DDA3|proline/serine-rich coiled-coil protein 1 protein-coding 1350761 PSTK phosphoseryl-tRNA kinase 737633 15489334,15317934,14702039,12477932,20877624 737633 118672 NM_153336,AC073585,CH471066,AK094271,AK127173,BC035344,CR618124 NP_699167,EAW49295,EAW49296,BAG52853,BAC86867,AAH35344,Q8IV42 Hs.281004 C10orf89|MGC35392 L-seryl-tRNA(Sec) kinase|O-phosphoseryl-tRNA(Sec) kinase|OTTHUMP00000020669 protein-coding 1316821 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. [provided by RefSeq] 1580863 11711533,17353931,9857189,18576390,18480402,17964261,17213252,16670297,16344560,16204241,15489334,14595024,12530983,12477932,11971877,11163214,9804817,9488710,9422760,9265651,11313252,19041431,19584923,19700023,19731031,19807924,20379614 9051 DB123759,U94778,NM_003978,NG_007526,AC090181,CH471136,AB451310,AB451440,AF038602,AF038603,AK298733,AK304052,AK308462,AK309856,AK310072,AK310126,AK316220,AL110110,BC008602,CR593209,CR610262 AAD00762,O43586,ABM82705,ABM85889,NP_003969,EAW99213,EAW99214,EAW99215,BAG70124,BAG70254,AAD11958,AAD11959,BAG60882,BAG64961,BAH14591,AAH08602 Hs.129758 CD2BP1|CD2BP1L|CD2BP1S|H-PIP|PAPAS|PSTPIP CD2 antigen-binding protein 1|CD2 cytoplasmic tail-binding protein|CD2-binding protein 1|PEST phosphatase-interacting protein 1|proline-serine-threonine phosphatase-interacting protein 1 protein-coding 1352589 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 16344560,15862967,15489334,15342556,14702039,12477932,9804836,9804817,8889549,20032092 9050 NM_024430,AC012569,AC090355,CH471088,AK023100,BC026223,BC035395,BP352927,DA943980 NP_077748,EAX01466,EAX01467,BAB14404,AAH35395,Q9H939,ABM84125,ABM84126,ABM84127,ABM84621,ABM87526,ABM87527,ABM87528 Hs.567384 MAYP|MGC34175 PEST phosphatase-interacting protein 2|proline-serine-threonine phosphatase-interacting protein 2 protein-coding 733075 PTAFR platelet-activating factor receptor PTAFR shows structural characteristics of the rhodopsin (MIM 180380) gene family and binds platelet-activating factor (PAF). PAF is a phospholipid (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) that has been implicated as a mediator in diverse pathologic processes, such as allergy, asthma, septic shock, arterial thrombosis, and inflammatory processes.[supplied by OMIM] 1581279,1580863 19913121,20628086,1656963,1657923,1281995,7848283,7566121,6325330,3010668,1374385,1322356,1312046,18029348,15028279,16344560,19474802,19620302,19703903,20007715,20237496,20392487,20032301,10601267,8892648,8978777,8168510,18632638,18187960,17928889,16984258,16837045,16793019,16306050,16115894,15748960,15489334,15160913,15149885,15115767,14617636,14500726,14500680,12756251,12713583,12601006,12477932,12467527,11928813,11861812,11729201,11297424,10395919,10391209,9657523,9037196,8395240,8387031,8383507,16754659,20637897,18577758 1581279 5724 NM_000952,AL137792,AL353354,CH471059,M88177,S56396,AK290240,AK292053,AK313174,AY275466,BC013816,BC063000,BT009801,CR600205,CR621278,D10202,D31736,L07334,M76674,M80436,S52624,CD013879,DA705644,DA923972,NM_001164721,NM_001164722,NM_001164723 NP_000943,EAX07711,AAA60214,AAB25755,BAF82929,BAF84742,BAG35991,AAP32298,AAH13816,AAH63000,AAP88803,BAA01050,BAA06537,AAA60108,AAA60002,AAA60001,AAB24695,P25105,ABM82642,ABM85819,ACE87813,ACT64516,NP_001158193,NP_001158194,NP_001158195 Hs.433540 PAFR PAF-R|platelet-activating factor receptor protein-coding 1313649 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 737633 16341674,12477932 737633 375743 BM785278,NM_001099666,AL162412,CH471089,AI937926,AK127511,AL832683,BC053622 AAH53622,Q7Z6K3,NP_001093136,CAI10944,CAI10945,EAW62489 Hs.726389 FLJ45604 4930428J16Rik|OTTHUMP00000021437|protein prenyltransferase alpha subunit repeat-containing protein 1 protein-coding 732339 PTBP1 polypyrimidine tract binding protein 1 This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 12226669,1641332,19144709,18714005,18499661,18335065,18216120,18193060,17936301,17592047,17507659,17497933,16885029,16765895,16362043,16314454,16282332,16189514,16179478,16169070,15767428,15669107,15635413,15489334,15341728,15169918,15057824,15039777,14769134,12851456,12667457,12581738,12527772,12517964,12509450,12477932,12449425,12388589,12213192,12004072,11788707,11781313,11739782,11724819,11602719,11060040,11024286,11003644,10856256,10772858,9563502,9512476,9166399,8883365,8626763,8449401,7558043,1906035,1286667,12033793,1906036,10653975,16373488,16713569,15975576,16051233,19226116,19450550,19590510,20064465,20071487,20080103,20190818,19889140 5725 NM_002819,NM_031990,NM_031991,NM_175847,AC006273,CH471242,AB208910,BC002397,BC004383,BC013694,BC023219,BQ068293,BT006819,CR591811,CR592314,CR593709,CR594496,CR594543,CR594950,CR596008,CR602261,CR603046,CR605589,CR607067,CR607326,CR610714,CR613533,CR616729,CR617988,CR620338,CR621295,CR623278,CR626664,X60648,X62006,X65371,X65372,X66975,CR625996 NP_002810,NP_114367,NP_114368,NP_787041,AAC99798,EAW61152,EAW61153,EAW61154,EAW61155,EAW61156,EAW61157,EAW61158,BAD92147,AAH02397,AAH04383,AAH13694,AAP35465,CAA43056,CAA43973,CAA46443,CAA46444,CAA47386,P26599,Q59H49,Q9BUQ0 Hs.172550 HNRNP-I|HNRNPI|HNRPI|MGC10830|MGC8461|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTB 57 kDa RNA-binding protein PPTB-1|RNA-binding protein|heterogeneous nuclear ribonucleoprotein I|heterogeneous nuclear ribonucleoprotein polypeptide I|hnRNP I|polypyrimidine tract binding protein|polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)|polypyrimidine tract-binding protein 1 protein-coding 1348128 PTBP1P polypyrimidine tract binding protein 1 pseudogene 11024286 122888 NG_002328,AB072380,AL355076 HNRNPIP pseudo 1343835 PTBP2 polypyrimidine tract binding protein 2 The protein encoded by this gene binds to the intronic cluster of RNA regulatory elements, downstream control sequence (DCS). It is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein but it is expressed primarily in the brain. [provided by RefSeq] 18635961,17967866,17548433,17466948,17137510,16936729,16839202,16713569,16710414,16260624,16189514,16002244,15823607,15684381,15489334,14702039,14667811,12667457,12477932,12213192,19571811,19756143,20010808,20160105,20379614,11790298,11694331,11003644,8626763,12581738,20935630,20520763 58155 AI968454,AK022716,AK025333,AK092216,AK295384,AK299755,AK299897,AK299922,BC016582,BK000526,DB473562,AL357150,CH471097,U89241,AB051232,AB051233,AB209266,AF176085,AF530580,AF530581,AF530582,AF530583,AF530584,AF530585,AI052528,NM_021190 BAG58340,BAG61644,BAG61740,BAG61757,AAH16582,DAA00060,O95652,Q59G43,Q9UKA9,ABM81953,ABW03352,NP_067013,CAH70266,CAH70267,CAH70268,CAH70269,EAW73005,EAW73006,EAW73007,EAW73008,EAW73009,EAW73010,AAD09652,BAB71742,BAB71743,BAD92503,AAF14284,AAM94624,AAM94625,AAM94626,AAM94627,AAM94628,AAM94629 Hs.596061,Hs.726436 FLJ34897|PTB|PTBLP|brPTB|nPTB|nPTB5|nPTB6|nPTB7|nPTB8 OTTHUMP00000012412|OTTHUMP00000012413|PTB-like protein|neural polypyrimidine tract binding protein|neural polypyrimidine tract-binding protein|neurally-enriched homolog of PTB|polypyrimidine tract-binding protein 2|splicing regulator protein-coding 1322951 PTCD1 pentatricopeptide repeat domain 1 15489334,14702039,12853948,12690205,12477932,9847074,9734811,16344560,19651879 26024 AC004922,AC073063,AC090113,CH236956,CH471091,AB014532,AB073644,AK001615,AK291004,AK307981,BC003688,NM_015545,BC024042,BC080580,BC103495,BC103502,BC103661,BG717613,CR598273,DA770648 O75127,Q3SYP6,Q3ZB84,NP_056360,EAL23880,EAW76669,BAA31607,BAG50949,BAF83693,AAH03688,AAH80580,AAI03496,AAI03503,AAI03662 Hs.632313 KIAA0632 OTTHUMP00000206312|OTTHUMP00000218971|pentatricopeptide repeat-containing protein 1 protein-coding 1321137 PTCD2 pentatricopeptide repeat domain 2 737633 16344560,14702039,12477932,20877624 737633 79810 NM_024754,AC026406,CH471084,AK022660,AK056761,AK298750,AK303639,AK303776,BC018720,CR457290,CR593515,CR593542,DA082506 NP_079030,EAW95704,EAW95705,EAW95706,BAB14162,BAG51808,BAH12866,BAH14003,BAH14048,AAH18720,CAG33571,Q8WV60 Hs.126906 FLJ12598 OTTHUMP00000190857|OTTHUMP00000223573|pentatricopeptide repeat-containing protein 2 protein-coding 1344871 PTCD2P1 pentatricopeptide repeat domain 2 pseudogene 1 414887 1605991 PTCD3 Pentatricopeptide repeat domain 3 17353931,19427859,16344560,16189514,12477932,8889549,8889548,19019082,16169070,16712791,20877624,19913121,20628086 55037 AC009309,CH471053,AK000765,AK293962,AK315676,AL832520,AW004698,AY277598,BC001758,BC011832,NM_017952,BE670168,BI825315,BM682009,BM729078,BM792175,BM930217,BQ071234,BQ574414,BQ883563,BU631567,CA776493,CB163660,CR601580,DA479719,N71834 NP_060422,EAW99464,EAW99465,EAW99466,BAA91370,BAG57334,BAG38041,CAH56345,AAQ18037,AAH01758,AAH11832,Q96EY7 Hs.323489,Hs.623885 DKFZp666K071|FLJ20758 TRG-15|pentatricopeptide repeat-containing protein 3, mitochondrial|transformation-related gene 15 protein protein-coding 1319156 PTCH1 patched homolog 1 (Drosophila) This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq] 1580863,2324911,704355,2324910 20237162,8906787,8681379,8981943,19465923,19453261,19414732,19351817,19287961,19287498,19266077,19221557,19213072,19077462,19074885,19002359,18990233,18854826,18754037,18679421,18543049,18538319,18502968,18436435,18391952,18302678,18272036,18068533,18068337,18059486,8782823,8658145,8647801,1348213,19008023,19473442,19521425,19557015,19561609,19564910,19618880,19673023,19728145,19730683,19937600,20010835,20050020,20068110,20346027,20538960,17950424,17597822,17597182,17487419,17461467,17310997,17295047,17258529,16945339,16934747,16931872,16867986,16804411,16780502,16777989,16675912,16645598,16419085,16344560,16322088,16203740,16109989,16088933,15905200,15888139,15780749,15769472,15712338,15598212,15592520,15581634,15565302,15534865,15502856,15492847,15459969,15308259,15164053,12925203,12874272,12516098,12477932,12407090,12241103,12204003,12203113,12192414,12007715,11941477,11836379,11718263,11331587,11286632,11231326,11001584,10874314,10200051,9926943,9811851,9620294,9341860,8889548,8840969,20012784,19913121,20546612,20583170,20628086,20634891,20690502,20546211,20858761 2324911,704355,2324910 5727 AB189440,AB209495,AB212827,AB212828,AB214500,AB233422,AB233424,AB239329,AI358880,AI494442,AK124593,AK130256,BC043542,BF195352,BM974119,BX117041,CR744004,DB093644,U43148,U59464,AB189439,NM_001083602,NM_001083603,NM_000264,NM_001083604,NM_001083605,NM_001083606,NM_001083607,NG_007664,AL161729,AY395758,AY395768,AY395772,CH471174,AB189436,AB189437,AB189438 BAD74187,BAD74188,BAD92732,BAF47711,BAE45300,BAE45302,BAE45304,BAF47712,BAC85893,AAH43542,AAC50496,AAC50550,Q13635,Q3LFT2,Q3LFT4,Q3LG18,Q59FG5,Q5R1U7,Q5R1U9,Q5R1V0,Q5VZC1,Q5VZC2,Q6TKP8,Q6TKP9,Q6TKQ0,Q6ZVG8,Q86XG7,AAI52920,NP_001077071,NP_001077072,NP_000255,NP_001077073,NP_001077074,NP_001077075,NP_001077076,CAH73817,CAH73818,CAH73819,AAR21238,AAR21239,AAR21240,EAW92631,EAW92632,BAD74184,BAD74185,BAD74186 Hs.638946,Hs.494538 BCNS|FLJ26746|FLJ42602|HPE7|NBCCS|PTC|PTC1|PTCH|PTCH11 OTTHUMP00000021709|OTTHUMP00000021710|PTCH protein +12b|PTCH protein +4'|PTCH protein -10|patched homolog (drosophila)|patched homolog 1|protein patched homolog 1 protein-coding 1604843 PTCH2 patched homolog 2 (Drosophila) This gene encodes a member of the patched gene family. The patched protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene is shown to be mutated in a medulloblastoma and in a basal cell carcinoma, suggesting that it plays a role in the development of some tumors. Alternative transcript variants have been described, but their biological function has not been determined. [provided by RefSeq] 9811851,19237606,19221557,19208383,18285427,16710414,14613484,12975309,10029063,9931336,20634891,12477932 8643 NM_003738,AL136380,AL592166,AY438664,CH471059,AF087651,AF091501,AF119569,AK307168,AY358555,AY359016,BC143712,AA781365,AI798853,BX089003,NG_013369,NM_001166292 NP_003729,CAI23127,CAI13000,AAR05447,EAX07017,AAD25953,AAC79847,AAD17260,AAQ88919,AAQ89375,Q5JR97,Q9Y6C5,AAI52912,NP_001159764 Hs.591497 PTC2 patched homolog 2|protein patched homolog 2 protein-coding 1352131 PTCHD1 patched domain containing 1 1580863 14702039,12477932,20531469,20844286 139411 NM_173495,AC073910,CH471074,AK054858,AK298796,BC062344,BC121061,BX107899,DC351268,DC365753,NG_021300 NP_775766,EAW98994,BAB70816,BAG60932,AAH62344,AAI21062,Q96NR3 Hs.319503 FLJ30296|MGC149798 patched domain-containing protein 1 protein-coding 1603018 PTCHD2 patched domain containing 2 15645143,11181995,10718198,8889548,16169070,15738394,16258256,19179482 57540 NM_020780,AL031735,AL590989,CH471130,AB037758,AL117235,AL117236,BU733859 NP_065831,CAI22474,CAI22475,CAH70606,EAW71687,BAA92575,CAB55302,CAB55303,Q9P2K9,Q9UJD7,AAI72581 Hs.202355 DISP3|KIAA1337 dispatched 3|patched domain-containing protein 2|protein dispatched homolog 3 protein-coding 1603484 PTCHD3 patched domain containing 3 17904097,12477932 374308 NM_001034842,AL355493,CH471072,AK126025,BC107139,DB509520 NP_001030014,EAW86056,BAC86399,AAI07140,Q3KNS1 Hs.631832 FLJ44037|MGC129888|PTR patched domain-containing protein 3|patched-related protein protein-coding 1342695 PTCRA pre T-cell antigen receptor alpha In immature T cells the T-cell receptor beta-chain gene (TCRB; MIM 186930) is rearranged and expressed before the TCRA (MIM 186880) chain. At this early stage, TCRB can associate with the pre-T-cell receptor alpha chain (PTCRA). The PTCRA, together with TCRB and the CD3 complex (see MIM 186740), minimally make up the pre-T cell receptor (pre-TCR), which regulates early T cell development.[supplied by OMIM] 8760805,19527514,19019335,18818748,17823309,14500629,12477932,11927911,11891328,9842925,8618853,1979339 171558 AF084941,AL035587,CH471081,AF101436,AF165312,AK130819,AK310559,AK312223,AW014894,BC069336,NM_138296,BC100771,BC100772,BC100773,BC100774,BC153829,U36759,U38996 NP_612153,AAC83346,CAI21484,EAX04107,EAX04108,EAX04109,EAX04110,AAF21890,AAF89556,BAC85438,BAG35156,AAH69336,AAI00772,AAI00773,AAI00774,AAI00775,AAI53830,AAB06194,AAB18373,Q6ISU1,Q6ZNR1 Hs.169002 PT-ALPHA|PTA pT-alpha-TCR|pre T-cell antigen receptor alpha|pre-T cell receptor alpha chain|pre-T-cell receptor alpha chain protein-coding 2311612 PTCSC papillary thyroid carcinoma susceptibility candidate (non-protein coding) 19147577,14702039 100302522 AK023948 Hs.658759 NCRNA00197 miscrna 1319019 PTDSS1 phosphatidylserine synthase 1 Phosphatidylserine (PS) accounts for 5 to 10% of cell membrane phospholipids. In addition to its role as a structural component, PS is involved in cell signaling, blood coagulation, and apoptosis. PS is synthesized by a calcium-dependent base-exchange reaction catalyzed by PS synthases (EC 2.7.8.8), like PTDSS1, that exchange L-serine for the polar head group of phosphatidylcholine (PC) or phosphatidylethanolamine (PE) (Sturbois-Balcerzak et al., 2001 [PubMed 11084049]).[supplied by OMIM] 1580863 20379614,19014349,15489334,12477932,11084049,10938271,7584026,1748687 9791 NM_014754,AP003465,CH471060,AK293036,AK293513,BC002376,BC004192,BC004390,BC004502,CR594697,CR620779,D14694 NP_055569,EAW91753,EAW91754,BAF85725,BAG56996,AAH02376,AAH04192,AAH04390,AAH04502,BAA03520,P48651,Q9BSY0,Q9BUQ5,ABM82751,ABM85938 Hs.292579 KIAA0024|PSS1|PSSA PSS-1|phosphatidylserine synthase 1|ptdSer synthase 1|serine-exchange enzyme I protein-coding 1317384 PTDSS2 phosphatidylserine synthase 2 Phosphatidylserine (PS) accounts for 5 to 10% of cell membrane phospholipids. In addition to its role as a structural component, PS is involved in cell signaling, blood coagulation, and apoptosis. PS is synthesized by a calcium-dependent base-exchange reaction catalyzed by PS synthases (EC 2.7.8.8), like PTDSS2, that exchange L-serine for the polar head group of phosphatidylcholine (PC) or phosphatidylethanolamine (PE) (Sturbois-Balcerzak et al., 2001 [PubMed 11084049]).[supplied by OMIM] 1580863 19014349,17081983,15489334,14984733,12477932,11084049,10938271 81490 NM_030783,AC137894,AC138230,CH471158,AK311723,AL834357,BC001210,BC015702 NP_110410,EAX02327,EAX02328,EAX02329,CAD39022,AAH01210,Q9BVG9,ABM82669,ABM85848 Hs.12851 FLJ46373|PSS2 PSS-2|phosphatidylserine synthase 2|ptdSer synthase 2|serine-exchange enzyme II protein-coding 69119 PTEN phosphatase and tensin homolog This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. [provided by RefSeq] 1581280,1581281,1581282,2290476,2291891,2289817,2292546,2301729,2292501,2292538,2292498,2292519,2292499,2292549,2313763,2292497,2292502,2289828,2298701,2292500,2292514,2292521,2290458,2292513,2292510,2292496,2292506,2292507,2292508,2292512,2292517,2292522,2292543,1302554,1302552,1302553,1302555,1302589,1300048,1302564,1302582,1302585,1643331,2292515,2292548,4143515,2326139 19913121,20226014,20444542,20523723,20529558,20565722,20590547,20622004,20628086,20628624,20631067,20634891,20677014,20056007,20467490,20505137,20637195,19470765,11121587,11058880,11035285,10978354,10955808,10889927,10866302,10852473,10817502,10807691,10748870,10706759,10582703,10555148,10400993,10400703,10340391,10234502,10213484,10193515,10092130,10051160,9927060,9915974,9832031,9797362,9794233,9735393,9697695,9635567,9600246,9467011,9425889,9399897,9393744,9356475,9354433,9354427,9345101,9331071,9286463,9259288,9241266,9140396,9090379,9072974,8889548,17157319,18498243,10748157,16169070,20309867,20338046,20381115,18231751,20580873,20736773,20862607,20881644,20955384,19763916,20113523,20711233,20819705,20959484,21084621,21177507,20514448,20797623,20515662,19276265,20395445,20608352,20736378,16845383,20102402,20371743,20372838,20388916,20430845,20534535,20103602,18226337,11146448,10646847,10760291,9593664,9811831,15951562,17218262,17274640,18064632,9256433,9616126,10468583,9367992,10918569,10866658,9187108,19492080,19487573,19486858,19471547,12370746,12367630,12351634,12297295,12235113,12209607,12203792,12203362,12190124,12177006,12176037,12168116,12168088,12133897,12119278,12115563,12091320,12085208,12084351,12077256,12077252,12067477,12055674,11986403,11953696,11948491,11948419,11943731,11932928,11925138,11916965,11906179,11896207,11875759,11870516,11866895,11857088,11854177,11849740,11836379,11801303,11799112,11784722,11751500,11748304,11729185,11707428,11689295,11504770,11494117,11476065,11303600,11270682,11259087,11230179,11190805,11179477,11156385,18497947,18482992,18474617,18460397,18456716,18431742,18431376,18425369,18424911,18391023,18390835,18383208,18377423,18363844,18339899,18339852,18335551,18332865,18324520,18316341,18307411,18271247,18240930,18240926,18239055,18226854,18220422,18216329,18199538,18199536,18184409,18178612,18174230,18091387,18066063,18065496,18059158,18006852,17982625,17974977,17959258,17958724,17954274,17949781,17940504,17936563,17928923,17924977,17919877,17912443,17911267,17908983,17895757,17886097,17880912,17875968,17873882,17873119,17873065,17847000,17845801,17827710,17826953,17826033,17786367,17761400,17729405,17727244,17713092,17701929,17700571,17699782,17684142,17684018,17681738,16821090,16818626,16810057,16807353,16793127,16773562,16707597,16704528,16702386,16697958,16697957,16676097,16676006,16652388,16637073,16621980,16598737,16574322,16571650,16537447,16534839,16525657,16506206,16496415,16487009,16457151,16436456,16432235,16425372,16424003,16421604,16418168,16371366,16371363,16331889,16331670,16325763,16274701,16220831,16219695,16194892,16179636,16154532,16124450,16107342,16096376,16088943,16055704,16052674,16020969,16012720,15994292,15988030,15987703,15986432,15968641,15948123,15900596,15897909,15891996,15848175,15843377,15824172,15805158,15803130,15802268,15793569,15784509,15766664,15764699,15725474,15725467,15710331,15707982,15701646,15674339,15668893,15633233,15623531,15589575,15584861,15569824,15564381,15551732,15543611,15537704,15532706,15523694,15517593,15516982,15500293,15492994,15489334,15476185,15475931,15468057,15457582,15453811,15382065,15355975,15287024,15273733,19470463,19463221,19449221,19443706,19440552,19435893,19420344,19417140,19407556,19402094,19398573,19351817,19350382,19340001,19339269,19339266,19336370,19318457,19276401,19276385,19265751,19261849,19261747,19242756,19237173,19234438,19221500,19212633,19212625,19211894,19206163,19206008,19190120,19189642,19185849,19173293,19168705,19164214,19158375,19147772,19125794,19116269,19114656,19107233,19103758,19079342,19075230,19072831,19064572,19055754,19036165,19010541,19007975,18948956,18937284,18854827,18846217,18831514,18830414,18826385,18794882,18794879,18794875,18787206,18787170,18781614,18781191,18769113,18765664,18759867,18757404,18757403,18755892,18728972,18726116,18723495,18720079,18716620,18714395,18702307,18700047,18678645,18676830,18676680,18669866,18662848,18660489,18653908,18652763,18632660,18632658,18620995,18616639,18609703,18599181,18594467,18586681,18579579,18563337,18559622,18544045,18519768,18510548,18500270,17681183,17669465,17657248,17657213,17646270,17638924,17638861,17636424,17616684,17611573,17606718,17593340,17581634,17575221,17565999,17563403,17526801,17504928,17504383,17490733,17483060,17479230,17471559,17452630,17452061,17444818,17438373,17427195,17420249,17405772,17393112,17392703,17390041,17372210,17369847,17348444,17347137,17341483,17334236,17328268,17300726,17277022,17255257,17235455,17219201,17218261,17218260,17178862,17151929,17126809,17108713,17101085,17097286,17062663,17060456,17043057,17033968,17013611,17006756,17000554,16984224,16972255,16963781,16951148,16949921,16938570,16916644,16912159,16872708,16861931,16849370,16842970,15240129,15231710,15209376,15205473,15196854,15172121,15129904,15126336,15069540,15046605,15046604,15043466,15009714,14981940,14976311,14737113,14724591,14711368,14702039,14699494,14674989,14663583,14642363,14623898,14623110,14574156,14566704,14561749,14559824,14557489,14534684,14532122,14519639,14516315,12960424,12918097,12917336,12869565,12857747,12844284,12839924,12833416,12808147,12804776,12788938,12767263,12743604,12743124,12717346,12712134,12695913,12687015,12684422,12668978,12632503,12620973,12620407,12569575,12569572,12569555,12543774,12535639,12517803,12509854,12508347,12495846,12477932,12471211,12459646,12452054,12429629,12415190,12414663,12379854,12370766,17711623,20600018,20646419,20940307,21146147,10940933,20718038,16385451,16456542,17067457,17236582,17672936,17706140,17927875,17927889,17939398,17991315,18072631,18815879,18844062,18953692,19016009,19079986,19170196,19293259,19345329,19373662,19407851,19428048,19437103,19443396,19457929,19458356,19473982,19478684,19479935,19482022,19483472,19502790,19503063,19506903,19508975,19540498,19560785,19563023,19567590,19589246,19608668,19615424,19625176,19635806,19638581,19641183,19648120,19657395,19661141,19665071,19672202,19673018,19679016,19681904,19692168,19696618,19724853,19729658,19730150,19730774,19733443,19740742,19744772,19764563,19764572,19784964,19787268,19789190,19795445,19798057,19808686,19829307,19843859,19846776,19853286,19861688,19864456,19881543,19884556,19884659,19903340,19911253,19915616,19922411,19930417,19932734,19940030,19953097,19962668,20004652,20018398,20032390,20079711,20087603,20104229,20154081,20169661,20173664,20175786,20177066,20186503,20193662,20198299,20198337,20208477,20212113,20231295,20237279,20300775,20358487,20389136,20393024,20400965,20407443,20447721,20453000,20465090,20472848,20533527,7728760,20576813,20664988,20705603,20956547 1581280,1581281,1581282,2290476,2291891,2289817,2292546,2301729,2292501,2292538,2292498,2292519,2292499,2292549,2313763,2292497,2292502,2289828,2298701,2292500,2292514,2292521,2290458,2292513,2292510,2292496,2292506,2292507,2292508,2292512,2292517,2292522,2292543,1302554,1302552,1302553,1302555,1302589,1302564,1302582,1302585,1643331,2292515,2292548,4143515,2326139 5728 NM_000314,NG_007466,AC063965,AF000734,AF067844,AF143315,CH471066,DQ073384,AA017584,AI825848,AK021487,AK021619,AK024986,AK124525,AK130076,AK313581,BC005821,BG772190,CA944942,CR450306,CR624542,U92436,U93051,U96180 NP_000305,AAC08699,AAD13528,AAD38372,EAW50172,EAW50173,EAW50174,EAW50175,AAY57327,BAG36351,AAH05821,CAG29302,AAC51182,AAC51183,AAB66902,P60484,ABM83530,ABM86488,ABW03514 Hs.500466 10q23del|BZS|DEC|GLM2|MGC11227|MHAM|MMAC1|PTEN1|TEP1 MMAC1 phosphatase and tensin homolog deleted on chromosome 10|mutated in multiple advanced cancers 1|phosphatase and tensin homolog|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 2314830 INSUL25_H protein-coding 1351607 PTENP1 phosphatase and tensin homolog pseudogene 1 1580863 16368877,12477932,11886535,10208437,9794233,9620558,9467947,9439675,9393738,9326929,21048031,20577206 11191 NG_001337,NR_023917,AB009903,AF343912,AL356489,AF017999,AF019083,AF023139,BC038293,BY797336 BAA24090,AAB70558,AAC52017 Hs.493716 PTEN-rs|PTEN2|PTH2|psiPTEN pseudo 1352492 PTER phosphotriesterase related 1580863 19151714,15489334,14702039,12477932,9925913,9237666,20571754,20797317,17207965,20712903 9317 NM_001001484,NM_030664,AL360230,CH471072,AF212237,AK095486,AK314910,AL119009,AW451393,AW451917,BC015092,BC050411,BX648556,CR620012,EF445015 NP_001001484,NP_109589,CAH73146,EAW86226,EAW86227,EAW86228,EAW86229,EAW86230,AAK14923,BAG53067,BAG37422,AAH15092,AAH50411,Q96BW5,ADQ33070,ACA06055,ACA06056,ACA06057 Hs.444321,Hs.727706 RPR-1 HPHRP|OTTHUMP00000019213|OTTHUMP00000019214|parathion hydrolase-related protein|phosphotriesterase-related protein|resiniferatoxin-binding, phosphotriesterase-related protein-coding 1346483 PTF1A pancreas specific transcription factor, 1a This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq] 633758,1580863 19650412,19741120,9851981,8703005,12185368,18834332,17928434,16354684,15543146,15164054,12617822,10768861,1720355,2612907,8861960 633758 256297 NM_178161,NG_009798,AL139281,BK000272,AF181999,BM055347,CK904916 NP_835455,CAI12668,DAA01052,AAG09441,Q7RTS3,AAI72252,AAI72557 Hs.351503 PTF1-p48|bHLHa29 bHLH transcription factor p48|class A basic helix-loop-helix protein 29|class II bHLH protein PTF1A|exocrine pancreas-specific transcription factor p48|p48 DNA-binding subunit of transcription factor PTF1|pancreas transcription factor 1 subunit alpha|pancreas-specific transcription factor 1a protein-coding 1349248 PTGDR prostaglandin D2 receptor (DP) The protein encoded by this gene is a G-protein-coupled receptor. It has been shown to function as a prostanoid DP receptor. The activity of this receptor is mainly mediated by G-S proteins that stimulate adenylate cyclase resulting in an elevation of intracellular cAMP and Ca2+. Knockout studies in mice suggest that the ligand of this receptor, prostaglandin D2 (PGD2), functions as a mast cell-derived mediator to trigger asthmatic responses. [provided by RefSeq] 1580863,2316816 19913121,20628086,7642548,19264973,19247692,19237393,19220773,19064572,18957281,18811623,18802357,18797183,18005048,17965752,17878378,17845306,17541272,17538632,17496729,17307163,17157653,16629782,15749909,15496624,15489334,15004188,12895603,12672054,12494276,12477932,12230502,12119603,12002745,11742277,11139429,10827082,8833158,1422574,19423540,19710676,19748656,20237496,20308056,20379614,20406964,20438785,12036966 2316816 5729 NM_000953,NG_012118,AL365475,CH471078,DQ418808,U31098,U31332,AK026202,BC040968,EF577397,U31099 NP_000944,EAW65657,ABD72608,AAC50176,AAC50178,AAH40968,ABQ52417,AAC50177,Q13258 Hs.306831 AS1|ASRT1|DP|DP1|MGC49004 PGD receptor|PGD2 receptor|prostaglandin D2 receptor protein-coding 737496 PTGDS prostaglandin D2 synthase 21kDa (brain) The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq] 729554,1642582,1300048,1642584,1642580,1642581,1580863 19913121,20628086,7692978,9065498,19276290,19132521,19131342,19124506,19015601,18830622,18817855,18802357,18552976,18448869,18349703,18077799,17852800,17588556,17574780,10781097,10462696,9844724,9475419,9405674,9162076,8889548,8761996,8599604,8336140,8336134,8300593,8253813,8163486,7689714,1902577,1726844,1385416,17532558,17499437,17404210,17307169,17230501,17093043,16713569,16335952,16303743,16199891,15862967,15718494,15489334,15453544,15325247,15164053,15081423,12900000,12477932,12358155,11882588,11751991,11669522,11287775,11068878,20596612,20144489,20029029,18436228,19094210,19578796,19598000,19949816,19958607,20008150,20403807 729554,1642582,1642584,1642580,1642581 5730 NM_000954,AL807752,CH471090,DQ297141,M98538,M98539,AA621632,AI659247,AK075333,AK312817,AY026356,BC005939,BC041463,BG037037,BM686612,BT019921,BT019922,CR594734,CR610092,CR612267,CR614437,M61900 NP_000945,CAI12756,CAI12757,CAI12758,CAI12759,CAI12760,EAW88321,EAW88322,EAW88323,ABB84464,AAB51074,BAG52113,BAG35674,AAK07679,AAH05939,AAV38724,AAV38725,AAA36494,P41222 Hs.446429 L-PGDS|LPGDS|PDS|PGD2|PGDS|PGDS2 OTTHUMP00000022640|OTTHUMP00000022642|PGD2 synthase|beta-trace protein|cerebrin-28|glutathione-independent PGD synthase|glutathione-independent PGD synthetase|lipocalin-type prostaglandin D synthase|lipocalin-type prostaglandin-D synthase|prostaglandin D synthase|prostaglandin d2 synthase|prostaglandin-D2 synthase|prostaglandin-H2 D-isomerase protein-coding 733054 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq] 1580863 19913121,20587336,20628086,20673868,12642666,12477932,11951086,11235015,7938166,7759114,1160156,12841871,12788892,19625175,20178602,20452482,20647315,8253813,19336370,19064572,18516068,17906615,17877755,17611676,17525067,17496729,16670773,16393343,16331686,15886234,15855163,15489334,14744769,14562138,16754659,21052031 5731 NM_000955,AB065464,AC008569,CH471106,AY275470,BC029768,BC039034,BC051286,L22647 NP_000946,BAC05723,EAW84422,AAP32302,AAH29768,AAH39034,AAH51286,AAC37539,P34995,Q05C32 Hs.159360 EP1 PGE receptor EP1 subtype|PGE receptor, EP1 subtype|PGE2 receptor EP1 subtype|prostaglandin E receptor 1, subtype EP1|prostaglandin E2 receptor EP1 subtype|prostaglandin e receptor 1|prostanoid EP1 receptor protein-coding 1342884 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa 1580863 12149218,12051958,11951086,11834444,11093764,10521663,8889548,8250933,8163486,8078484,7759114,20551148,19407222,19527514,19542367,19582788,19782748,19789190,19808686,20018632,20086108,20200425,20237496,20452482,20304053,20516073,20484658,20347274,20140262,21052031,10462542,19336370,19273625,19169646,19050969,19019335,18989535,18829529,18818748,18792407,18790761,18666211,18537828,18319253,18296611,18254372,18086382,18083712,18005048,17877755,17728378,17611676,17555711,17533365,17525067,17496729,17384145,17290397,17078003,17028262,16879213,16607275,16461132,16267225,15970595,15539459,15489334,15347673,15044590,14699136,14562138,12477932,12466123,12228765,14517215,12933667,12788892,12743126,20587336,20628086,20673868,19913121,20382140,20357748,12036966 5732 AF134202,AL365475,CH471078,DQ398948,AY275471,BC093927,BC093929,BE739744,BF029797,BM986745,BQ014559,CF132756,NM_000956,NG_013082,CN484094,CR977661,U19487,X83868 NP_000947,AAD44177,EAW65652,EAW65653,EAW65654,ABD48958,AAP32303,AAH93927,AAH93929,AAA61681,CAA58749,P43116 Hs.2090 EP2 PGE receptor EP2 subtype|PGE2 receptor EP2 subtype|prostaglandin E2 receptor EP2 subtype|prostanoid EP2 receptor protein-coding 731378 PTGER3 prostaglandin E receptor 3 (subtype EP3) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple alternatively spliced transcript variants encoding eight distinct isoforms have been reported. [provided by RefSeq] 737727 19913121,20587336,20628086,20673868,8075855,7981210,7883006,7759114,7476918,20947153,21052031,20503412,10336471,10947062,8307176,19527514,19165680,19064572,19019335,19012178,18996083,18818748,18652829,18632791,18573679,18296611,18023986,18005048,17877755,17644362,17496729,16710414,16707103,16274459,15528329,15489334,15304361,15290741,14699136,14562138,12788892,12743126,12699873,12642666,12477932,11235015,9751056,9073510,9065782,8135729,8117308,2834384,18577758,20140262,20516073,17207965,20452033,19799610,20110411,20237496,20379614,20452482,9154343 737727 5733 NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715,AL031429,NM_198717,AL158087,CH471059,CS173017,D86096,AB451481,AI273491,AK290634,AK315825,AL050227,AL700981,AY429108,BC024229,BC118578,BC118659,D38297,D38298,D38299,D38300,D38301,D86097,D86098,EF534325,AY387856,L26976,L27488,L27489,L27490,L32660,L32661,L32662,S68874,S69200,S69326,U13214,U13215,U13216,U13217,U13218,X83857,X83858,X83859,X83860,X83861,X83862,X83863,NR_028292,NR_028293,NR_028294 NP_942010,NP_942009,NP_942007,NP_942011,NP_001119516,NP_942012,NP_942008,CAB52459,CAI20225,CAI20226,CAI20227,CAI20228,CAI23437,EAX06436,EAX06437,EAX06438,EAX06439,EAX06440,EAX06441,EAX06442,EAX06443,EAX06444,EAX06445,EAX06446,CAJ33690,BAA19949,BAA19950,BAA19951,BAA19952,BAA19954,BAA19955,BAA19956,BAA19957,BAG70295,BAF83323,BAF98716,AAQ90021,AAR07903,AAH24229,AAI18579,AAI18660,BAA07416,BAA07417,BAA07418,BAA07419,BAA07420,BAA19958,BAA19959,ABS57464,AAA60076,AAC13372,AAC13373,AAC13374,AAA68191,AAA68192,AAA68193,AAB29855,AAB29854,AAB30208,AAA21130,AAA21131,AAA21132,AAA21133,AAA21134,CAA58737,CAA58738,CAA58739,CAA58740,CAA58741,CAA58742,CAA58743,O00325,P43115,Q147U0,Q147X8,Q5CZ57,Q5CZ59,Q5CZ60,Q5CZ61,Q5CZ62,Q5CZ63,Q5CZ64,Q6TTN3,Q9UBW3,ADQ32123 Hs.445000 EP3|EP3-I|EP3-II|EP3-III|EP3-IV|EP3e|MGC141828|MGC141829|MGC27302 PGE receptor EP3 subtype|PGE receptor, EP3 subtype|PGE2 receptor EP3 subtype|PGE2-R|prostaglandin E receotor EP3 subtype 3 isoform|prostaglandin E2 receptor EP3 subtype|prostaglandin e receptor 3|prostaglandin receptor (PGE-2)|prostanoid EP3 receptor protein-coding 736498 PTGER4 prostaglandin E receptor 4 (subtype EP4) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq] 1581283,1581284,1580863 19913121,20549515,20587336,20628086,20673868,8163486,8862514,19453261,19444759,19336370,19273625,19227010,18829529,18802112,18797183,18587394,18516068,18319253,18270204,18254372,18086382,18083712,18005048,17877755,17684544,17631291,17611676,11423555,11344234,11093764,10880739,9214685,8855294,8661119,8250933,8078484,7759114,20551148,21071691,20484658,17447842,17290397,17237224,17130837,17046175,16857763,16574793,16428339,16020747,15970595,15528329,15489334,15347673,15290741,15100359,14709160,14517215,12566441,12477932,12228765,12215436,12149218,11951086,11948128,11876748,11782353,11706038,11597569,11470276,17525067,17496729,19760754,20846217,20962850,21052031,21072187,21102463,12036966,20561984,19407222,19407341,19445930,19525953,19558693,19879194,20014019,20018632,20086108,20145136,20222910,20237496,20452482,20353998,20503412 1581283,1581284 5734 NM_000958,AC093264,CH471119,DQ400918,X97873,AY429109,BC027934,BC101534,BC113523,BM312677,BQ029720,CD000197,D28472,L25124,L28175 NP_000949,EAW55996,EAW55997,ABD48960,CAA66463,AAR07904,AAH27934,AAI01535,AAI13524,BAA05834,AAA36438,AAA36434,P35408,ADR83198 Hs.199248 EP4|EP4R|MGC126583 PGE receptor EP4 subtype|PGE receptor, EP4 subtype|PGE2 receptor EP4 subtype|prostaglandin E2 receptor EP4 subtype|prostanoid EP4 receptor protein-coding 1347459 PTGER4P1 prostaglandin E receptor 4 (subtype EP4) pseudogene 1 5735 1342841 PTGER4P2 prostaglandin E receptor 4 (subtype EP4) pseudogene 2 5736 69032 PTGES prostaglandin E synthase The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq] 1300048,2300080,2300083,2300079,2300088,2300094,2300093,2300107,2300116,2300106,2300089,1642457,2300085,2300108,2300087,1580863 19913121,20628086,20628624,19399588,19412621,19802674,19846775,20042640,20086108,20453000,10377395,19527514,19428335,19347995,19343046,19336370,19276290,19124506,19115247,19114118,19053751,19046748,19035518,19019335,19017494,18984580,18818748,18555503,18479189,18050215,18038187,17968936,17928629,17708577,17707523,17697149,17696939,17680542,17505022,17295901,16952028,16891468,16598755,16212965,15870920,15868626,15789615,15489334,15379214,15234907,15188353,15167446,15023995,14871981,14722058,14702039,14671209,14630996,14558087,12860389,12835414,12835322,12818425,12721500,12672824,12664599,12626523,12519887,12512699,12477932,12460774,12414902,12145315,10760517,10091672,9743208,9305847,8253813,8163486,20939114,20140262,21052031,20635443,20605783,20369883 2300080,2300083,2300079,2300088,2300094,2300093,2300107,2300116,2300106,2300089,1642457,2300085,2300108,2300087 9536 NM_004878,AJ271802,AL590369,AL592219,EF543149,AF010316,AF027740,AF217965,AF217972,AK127663,AK311947,BC008280,BC018201,BM550187,BQ927197,BX357872,BX396892,CB960064,CR605510,CR610930,CR618950,CR620820 NP_004869,CAB72099,CAI14506,CAI16116,ABQ01233,AAC39534,AAB82299,AAG17208,AAG17215,BAG34888,AAH08280,O14684,Q9GZZ5 Hs.146688 MGC10317|MGST-IV|MGST1-L1|MGST1L1|MPGES|PGES|PIG12|PP102|PP1294|TP53I12|mPGES-1 MGST1-like 1|glutathione S-transferase 1-like 1|microsomal glutathione S-transferase 1-like 1|microsomal prostaglandin E synthase-1|p53-induced apoptosis protein 12|p53-induced gene 12 protein|prostaglandin E synthase|tumor protein p53 inducible protein 12 protein-coding 1321966 PTGES2 prostaglandin E synthase 2 The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq] 1580863 19064572,19001348,18631945,17979097,17697149,17566096,15231747,11256614,19371221,19347995,19336370,17266179,16714329,16381901,12050152,11866447,11847219,11076863,9373149,8300593,8125298,19664621,16341674,15879117,15489336,15489334,15164053,14702039,12835322,12804604,12477932,19268562,19412621,20877624 80142 NM_025072,NR_027811,NR_027812,NG_012488,AL590708,CH471090,AK024100,AK057049,AK223520,AK301618,AL525982,AW073370,BC009397,BC009456,BC011613,BE797008,BI761840,BI826720,BM739176,BQ889675,CR591721,CR592294,CR594346,CR595131,CR596747,CR597019,CR603098,CR603861,CR604511,CR606648,CR607888,CR616554,CR616835,CR618698,CR620072 NP_079348,CAI13821,CAI13822,EAW87741,EAW87742,EAW87743,EAW87744,EAW87745,EAW87746,BAB14826,BAG51854,BAD97240,BAG63103,AAH09397,AAH09456,AAH11613,Q9H7Z7,CAL37443,ABM82830,ABM86016 Hs.495219 C9orf15|FLJ14038|GBF1|MGC11289|PGES2|mPGES-2 GATE-binding factor 1|OTTHUMP00000022232|OTTHUMP00000215363|gamma-interferon-activated transcriptional element-binding factor 1|membrane-associated prostaglandin E synthase 2|microsomal prostaglandin E synthase 2|microsomal prostaglandin E synthase-2|prostaglandin E synthase 2 protein-coding 1606321 PTGES3 prostaglandin E synthase 3 (cytosolic) 4892102 10922363,12135483,12077419,8114727,19347995,19254810,17697149,17081983,16916647,16809759,16807684,16403413,16094384,15489334,14702039,14507910,12477932,11879970,11812147,11809754,11531413,11447118,11274138,11259606,11056392,11013261,10811660,10691735,10581266,10207098,10095121,9727490,9261129,9148915,8889548,9222609,20847343,12853476,17353931,19740745,19751963,19996313,20159553,20385819 4892102 10728 NM_006601,AC117378,CH471054,AK098214,AK291945,AK293139,AK295208,AK298147,AK298160,AL603017,BC003005,BC021167,BU732883,CR591911,CR592020,CR594386,CR595555,CR595624,CR596806,CR597676,CR599367,CR601887,CR610537,CR610680,CR610732,CR611609,CR619927,CR621204,CR622125,CR622942,L24804,Z69891 NP_006592,EAW96953,EAW96954,EAW96955,EAW96956,EAW96957,EAW96958,BAG53594,BAF84634,BAG56687,BAG58204,BAG60423,BAG60433,AAH03005,AAH21167,AAA18537,Q15185,ABM87709,ABW03847 Hs.50425 P23|TEBP|cPGES Hsp90 co-chaperone|cytosolic prostaglandin E synthase|cytosolic prostaglandin E2 synthase|progesterone receptor complex p23|prostaglandin E synthase 3|telomerase-binding protein p23|unactive progesterone receptor, 23 kD protein-coding 737369 PTGFR prostaglandin F receptor (FP) The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19913121,20628086,8300593,9918852,19527514,19347709,19336370,19280705,19019335,18818748,18703533,18587449,18316157,17582204,17496729,17478553,17467803,16911823,16855208,16710414,16378246,16096282,16061484,15748887,15489334,15118249,15028279,14984197,14764825,14746914,12519077,12477932,11951086,9341156,9235889,8253813,8163486,7988697,7759114,20140262,20519365,16754659,18577758,20536573,10575000,15651980,19289115,19782748,19819266,20008143,20092633,20237496,20379614 5737 NM_000959,AB041713,AB201108,AF068679,AL136324,CH471059,CS008570,CS008582,AF004021,AK292845,AK312816,AY337000,AY485530,BC112965,BG771316,NM_001039585,BQ897935,CA429969,CD013876,H02113,L24470 NP_001034674,NP_000950,BAA94756,BAE03222,AAC82378,CAC36038,CAI23426,EAX06350,EAX06351,CAI53641,CAI53647,AAB63152,BAF85534,AAQ76788,AAR84381,AAI12966,AAA17684,P43088,Q4LEK1,Q6RYQ6,Q71UN9,ABM81883,ABM85046 Hs.654365 FP|MGC120498|MGC46203 OTTHUMP00000011219|PGF receptor|PGF2 alpha receptor|PGF2-alpha receptor|prostaglandin F2 alpha receptor|prostaglandin F2-alpha receptor|prostaglandin f receptor|prostaglandin receptor (2-alpha)|prostanoid FP receptor protein-coding 733934 PTGFRN prostaglandin F2 receptor negative regulator 69949,1580863 11278880,17960739,17407154,16690612,16537545,16303743,14702039,12477932,11673522,11087758,10718198,9643346,8804121,8655148,19703604,19850283,20932654 69949 5738 AK074637,BC022235,BC042164,BC063317,BC098142,BC114520,BC139718,AK024785,BC152454,NM_020440,AL157904,AL445231,CH471122,AB014734,AB037857,AK001863 BAC11104,AAH98142,AAI14521,AAI39719,AAI52455,Q1WWL2,Q4QQP8,Q9H3U3,Q9P2B2,AAI68364,NP_065173,CAI22650,CAH71960,EAW56662,EAW56663,BAB20271,BAA92674 Hs.418093 CD315|CD9P-1|EWI-F|FLJ11001|FPRP|KIAA1436|SMAP-6 CD9 partner 1|glu-Trp-Ile EWI motif-containing protein F|prostaglandin F2 receptor negative regulator|prostaglandin F2-alpha receptor regulatory protein|prostaglandin F2-alpha receptor-associated protein protein-coding 1322052 PTGIR prostaglandin I2 (prostacyclin) receptor (IP) The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq] 1580863 19913121,20628086,7665161,7514139,20522800,7512962,19118563,19058789,18832025,18755267,18573679,18551041,18323528,18162607,18042246,18005048,17704830,17496729,17481829,17015447,16942748,16885208,16527812,16399867,16114876,15979846,15489334,15471868,15469414,15248755,15194446,15056772,15053924,12850828,12664600,12488443,12481546,12477932,12446735,12119468,12016224,11895442,11854299,11545623,11502878,11443126,10889200,10446129,9853255,9722557,9264479,9242534,9185236,8889548,7938166,7923647,7759114,16373414,21052031,20357748,20395296,16344560,12036966,18240029,20070947,20237496,15980156,18577758 5739 NM_000960,AC093503,CH471126,CQ834246,D38127,AK315278,AY242134,BC075814,BC110342,BQ185457,CR601077,D25418,D29634,L29016,DA652875 NP_000951,EAW57432,EAW57433,CAH05338,BAA07325,BAG37688,AAO92301,AAH75814,AAI10343,BAA05008,BAA06110,AAA36448,P43119,Q2YD89 Hs.458324 IP|MGC102830|PRIPR PGI receptor|PGI2 receptor|prostacyclin receptor|prostaglandin I2 receptor|prostanoid IP receptor protein-coding 736622 PTGIS prostaglandin I2 (prostacyclin) synthase This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq] 1580667,1580695,1298040,1300048,1580863 19913121,20628086,20357747,21052031,20348234,19040046,19534932,19578796,19719985,19789190,20159982,20346360,20453000,15115769,8812456,19336370,19327107,19276290,19265782,19187034,19147528,19124506,19065539,19064572,19056482,19046748,18814254,18081314,17635855,17374734,17303142,17221326,17210107,17070428,16537708,16406803,16081819,16007128,15489334,15182267,15128046,14702039,12924623,12751759,12741817,12664597,12562775,12477932,12428676,12414902,12414894,12372404,12213900,12193162,12040339,11924728,11780052,11368458,11339822,11281454,11130769,9367522,8831668,8630042,8185632,20452033 1580695,1298040 5740 NG_007940,AL118525,BX640942,CH471077,D83402,D84124,AF297048,AF297049,AF297050,AF297051,AF297052,AK055640,BC101809,BC101811,BC143381,D38145,NM_000961 NP_000952,CAC14162,EAW75655,BAA11910,BAA28219,AAG31781,AAG31782,AAG31783,AAG31784,AAG31785,AAI01810,AAI01812,BAA07343,Q16647,Q6LEN0,Q6LEN2 Hs.302085 CYP8|CYP8A1|MGC126858|MGC126860|PGIS|PTGI cytochrome P450, family 8, subfamily A, polypeptide 1|prostacyclin synthase|prostaglandin I2 synthase|prostaglandin i2 synthase protein-coding 732819 PTGR1 prostaglandin reductase 1 This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 8576264,17449869,15489334,15164053,14702039,12477932,12432938,19595472,19913121,20628086,20804502 22949 AK309450,AK309866,BC035228,D49387,AL159168,NM_001146108,NM_001146109,AL135787,CH471105,AA876375,AK091948,AK289597,AK298379,NM_012212 BAG60615,AAH35228,BAA08382,Q14914,Q5JVP2,Q5JVP3,Q9H1X5,NP_036344,NP_001139580,NP_001139581,CAC22151,CAC22152,CAI12401,CAI12402,EAW59074,EAW59075,EAW59076,EAW59077,EAW59078,BAF82286 Hs.584864 FLJ99229|LTB4DH|MGC34943|PGR1|ZADH3 15-oxoprostaglandin 13-reductase|NADP-dependent leukotriene B4 12-hydroxydehydrogenase|PRG-1|dithiolethione-inducible gene-1|leukotriene B4 12-hydroxydehydrogenase|prostaglandin reductase 1|zinc binding alcohol dehydrogenase domain containing 3 protein-coding 1321465 PTGR2 prostaglandin reductase 2 This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 18029348,19000823,18497997,17449869,15489334,15342556,15004468,14702039,12477932,17207965,20877624 145482 AK309188,AK311280,AY346133,AY424308,BC059364,BP357520,BU616297,BX641118,CR611156,DR158023,AK096410,AC005520,CH471061,NM_152444,NM_001146154,NM_001146155 BAC04781,AAR05101,AAR82927,AAH59364,CAE46055,Q8N8N7,NP_001139627,EAW81132,EAW81133,EAW81134,EAW81135,ADQ32982,NP_689657,NP_001139626 Hs.632344 DKFZp686P10120|FLJ39091|FLJ99229|PGR2|ZADH1 15-oxoprostaglandin 13-reductase|15-oxoprostaglandin-delta13-reductase|PRG-2|prostaglandin reductase 2|zinc binding alcohol dehydrogenase, domain containing 1|zinc-binding alcohol dehydrogenase domain-containing protein 1 protein-coding 736739 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes PTGS1, which regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. PTGS1 is thought to be involved in cell-cell signaling and maintaining tissue homeostasis. Alternative splicing of this gene generates two transcript variants. The expression of these two transcripts is differentially regulated by relevant cytokines and growth factors. [provided by RefSeq] 1300048,2300211,2300247,2300208,2300207,2300252,2300258,2290567,2300262,2300267,2300223,2300125,2300212,2300213,1580863 19913121,20628086,20628624,20673868,20691446,20720307,20538124,20357271,20382140,20225218,1380156,19170196,19235530,19399588,19625176,19692168,19723114,19740098,19769727,19887674,19948975,20201098,20308035,20437058,20452482,20453000,20227045,20227521,9630216,18029348,19530321,19527514,19433337,19390185,19350112,19336370,19282863,19276290,19258012,19205707,19132974,19132198,19124506,19091535,19064572,19060633,19056482,19046748,19019335,18997734,18992148,18838483,18818748,18753249,18705313,18676680,18636124,18618313,18571838,18511850,18459455,18287876,18280718,18214026,18173552,17977913,17926541,17868881,17681165,17673564,17671743,17640058,17631383,17624243,17559347,17555580,17495879,17355643,17322116,17320986,17301694,17264103,17130490,17105783,17078001,17071117,17062130,16930602,16875891,16857763,16787416,16702043,16678543,16493486,16411757,16344721,16323955,16181984,16181776,16150050,16141368,16115753,16105649,16055872,15963707,15870920,15720413,15705965,15654517,15607906,15504548,15489334,15453269,15375804,15361066,15328521,15308583,15301234,15190260,15167967,15159324,15086459,15041270,14988266,14625295,14507922,12954496,12842195,12835322,12784332,12730088,12720297,12711844,12711701,12665651,12664596,12545150,12519124,12477932,12242329,12237309,12213900,12193665,12192304,12050227,11981837,11920472,11897504,11877441,11809691,11477109,11318639,11121413,10999846,10988074,10900130,10585854,9435560,8900446,8643612,8365485,8349699,8181472,8121489,7864630,7559624,7510883,2512924,1907252,1734857,1587858,12354292,9639560,18612540,18582172,8581564,7521167,20530583 2300211,2300247,2300208,2300207,2300252,2300258,2290567,2300262,2300267,2300223,2300125,2300212,2300213 5742 NM_000962,NM_080591,AF440204,AL162424,AL359636,AY449688,CH471090,M31822,AF086438,AF129755,AJ420464,AK290022,AK295221,AK304403,AK308222,BC029840,DQ180740,DQ180741,DQ180742,M59979,S36219,S36271,S78220,U63846,GN341828,GN341826 NP_000953,NP_542158,AAL33601,CAI14714,CAI14715,CAI14716,CAM45740,CAM45741,AAR08907,EAW87529,EAW87530,AAA36439,BAF82711,BAG58214,BAG65237,AAH29840,ABA60097,ABA60098,ABA60099,AAA03630,AAB22216,AAB22217,AAB21215,AAC50632,P23219,Q3HY28,Q3HY29,Q3HY30,Q6LCE7,ABM83367,ABM86578,CAY39332,CAY39333 Hs.201978 COX1|COX3|PCOX1|PGG/HS|PGHS-1|PGHS1|PHS1|PTGHS COX-1|PGH synthase 1|PHS 1|cyclooxygenase-1|prostaglandin G/H synthase 1|prostaglandin G/H synthase and cyclooxygenase|prostaglandin H2 synthase 1|prostaglandin-endoperoxide synthase 1 protein-coding 731006 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq] 1580671,1580660,1581285,1581286,1581287,1581288,1581289,1642587,1642600,1300048,1642588,1642586,1642592,1642596,1642597,1642601,1642603,2300121,2289157,2300128,2300200,2300278,2300228,2300247,2300199,2300209,2300261,2290567,2300262,2300123,2300203,2300204,2300210,2300222,2300260,2300267,2300279,2300281,2300206,2300276,2298936,2300127,2300274,2300118,2300119,2300212,2300120,2300125,2300129,2300130,2300124,2300283,2308941,2300277,2300126,2300223,2300193,2300287,2300249,2300221,1625347,1580863,2317187,2317188,2317184,2317165,2317175,2317179,2317181,2317182,2317535,2317180,2317185,2317186 20673501,15949313,20492336,20683050,17525067,16723309,12016158,16941353,4514999,14511332,9630216,19638987,19631939,19630103,19625268,19591688,19579928,19576320,19560328,19544971,19527514,19513556,19505919,19491270,19488068,19455278,19433337,18818748,18817855,18802697,18798061,18797196,18795070,18794809,18790560,18775915,18773440,18771989,18771702,18768181,18758643,18754318,18753249,18752906,18720000,18718465,18717758,18714022,18705402,18703629,18695918,18692035,18691306,18676680,18671849,18671671,18668543,18660489,18650379,18645679,18636124,18632220,18627789,18617679,18611916,18601905,18594470,18592138,18579232,18579107,18572386,18571838,18565574,18565510,18555503,18550243,18524846,18514098,18512730,18503750,18498876,18496814,18489027,18479189,18471798,18469157,18466392,18462890,18462368,18459455,18453539,18449856,18441204,18408893,18398416,18395088,18393288,18392637,18385811,18381966,18381949,18381795,18378414,18373164,19428370,19423863,19422084,19383355,19375854,19347867,19336370,19329856,19327107,19321801,19318593,19318492,19299454,19289707,19289254,19287974,19282568,19280666,19280060,19278989,19277703,19276290,19272160,19268562,19268443,19260469,19258923,19258542,19251796,19247455,19245590,19244345,19241124,19238444,19236532,19223558,19219602,19218340,19217709,19205707,19203995,19201881,19197984,19188749,19169273,19161536,19140872,19138978,19138835,19132985,19127598,19124506,19124115,19116446,19102009,19096033,19088039,19084589,19082758,19082453,19075598,19074839,19064572,19062735,19060633,19058955,19058305,19056653,19056642,19056482,19048457,19047153,19047118,19046748,19042116,19039588,19033684,19031967,19029777,19019335,19017995,19016757,19015962,19004621,18997828,18997734,18992148,18991687,18989535,18985541,18974063,18953425,18936204,18930197,18922923,18854308,18843292,18842581,18831511,18825488,18823436,18819034,18367585,18367179,18367112,18362501,18356024,18350611,18349295,18345509,18334709,18330937,18326857,18320325,18319253,18316157,18311113,18307244,18297687,18295507,18288396,18287876,18285462,18284542,18280718,18276112,18262731,18245266,18237405,18234542,18230181,18216296,18214026,18212353,18204072,18203712,18202756,18201240,18199541,18192694,17515883,17511025,17510310,17509026,17507659,17504375,17495879,17479405,17460551,17460548,17459764,17457030,17455223,17437847,17434257,17429597,17429393,17418864,17413988,17405913,17404027,17404026,17395887,17392515,17373929,17356794,17355643,17354234,17350020,17342342,17341442,17337058,17332916,17328065,17325901,17322116,17308999,17307204,17303142,17295901,17290397,17265445,17264103,17244951,17234302,17222248,17218407,17214885,17202846,17192687,17181859,17178883,17178865,17178263,17177291,17175104,17171651,17166941,17156488,17156191,17151091,17143555,17133356,17130490,17128412,17113084,17105783,17097611,17095859,17078003,17071117,17066444,17062883,17058024,17050069,17046322,17018629,17016639,17013098,17012371,17012241,17011110,17006983,17003477,17001073,16998585,16997132,16984258,16982623,16979927,16979925,16972245,16959787,16952555,16950767,16930602,16926398,16921134,16917094,16912190,16912160,16908593,16905570,16890383,16884383,16879213,16875891,16871410,16870193,16868662,16840740,16831230,16823844,16822500,16821264,16820889,16820795,16820791,16820091,16820089,16807542,16788380,16786043,16782382,16775170,16762620,16760271,16733888,16733863,16731743,12480928,12477932,12470703,12462194,12459168,12452062,12450219,12444028,12433707,12405290,12401798,12397176,12393872,12393863,12391278,12391274,12378621,12377741,12349897,12324457,12218179,12213900,12209745,12209724,12205039,12197220,12195707,12193665,12174888,12167656,12164325,12162677,12145315,12143054,12131767,12124799,12086404,12072439,12070598,12067908,12051953,12050227,12050157,12032335,12021045,11906292,11901151,11897504,11894121,11891209,11891188,11880271,11867761,11850206,11847219,11844819,11809750,11809691,11712072,11705852,11687965,11432874,11401839,11309440,10999850,10999846,10842192,10813584,10705655,10487712,10075740,9661070,9545330,9520467,9140046,8889548,8643612,8473346,8181472,8074655,7947975,7945196,7510883,1536575,1380156,12354292,9639560,16001969,8581564,7521167,12006564,11994539,11992399,11981837,11972392,11959891,11957147,11948128,11939728,11920515,11920472,11913955,11911965,10811226,15766526,20585313,21044318,18070438,19960513,20399617,20409773,16373578,20810665,20811626,20880066,21042835,21059239,21059296,21061265,21063235,21086572,20160714,18201523,20382140,20571967,20635443,20649594,20653782,20944149,20954072,18190720,18181832,18181047,18173398,18172254,18171606,18167131,18165598,18164040,18159174,18156149,18097584,18097055,18094075,18093816,18085997,18079209,18064329,18053993,18048499,18039779,18038187,18032824,18029351,18027256,18006935,18006811,18000398,17999989,17991613,17982644,17982107,17977913,17970040,17968936,17968676,17962194,17961495,17955050,17952860,17936921,17927697,17924829,17916229,17889855,17881124,17876541,17868881,17868457,17855346,17851687,17851225,17823287,17724132,17711445,17710160,17707579,17703412,17702963,17693978,17683115,17681165,17680542,17678966,17673564,17671709,17671679,17657731,17651852,17650224,17645803,17643350,17640750,17640058,17635918,17631744,17631383,17627037,17624726,17624339,17624243,17624083,17616668,17614770,17611676,17609663,17604853,17599805,17594159,17592548,17592301,17588340,17581812,17581413,17581404,17581403,17581270,17578436,17573729,17572069,17570496,17562850,17560944,17560572,17555580,17553653,17550984,17544005,17542993,17536311,17525632,16718274,16710414,16702519,16702043,16699947,16699180,16687473,16682957,16681998,16681759,16678543,16675095,16632868,16612568,16606823,16603435,16598755,16596190,16574793,16574063,16570043,16552798,16551850,16550596,16542464,16531283,16521222,16515599,16506214,16505480,16498361,16497971,16495511,16489533,16489098,16487513,16481301,16479190,16479074,16475165,16474989,16474375,16473553,16458279,16456945,16453284,16442500,16432453,16419156,16415009,16414978,16407418,15484698,15478052,15474472,15471850,15461587,15456896,15450303,15383564,15381252,15375805,15375804,15375582,15374967,15361550,15355919,15334675,15331599,15330183,15328521,15328200,15319438,15308583,15301234,15285012,15276698,15274307,15272284,15259059,15254709,15248379,15246970,15234907,15231484,15228443,15222037,15222024,15221958,15220111,15210717,15203187,15190260,15181076,15173859,15167446,15162003,15156159,15151619,15151617,15150618,15146435,15138244,15131052,15102673,15100359,15069531,15067173,15063780,15055524,15050918,15042019,15041036,15014019,15013358,15010822,15010261,15000150,14991384,16399783,16393343,16391819,16371352,16361272,16357062,16352617,16344721,16344560,16343055,16341840,16338068,16331686,16326073,16323955,16314473,16309832,16284883,16278387,16273614,16256948,16243808,16237757,16215757,16212965,16205694,16203985,16203768,16195339,16186418,16181776,16174078,16172382,16169726,16168133,16164044,16157291,16150050,16136507,16115753,16111807,16110762,16101131,16097073,16097070,16087791,16083713,16083499,16076963,16046707,16046401,16044148,16035618,16024651,16010419,16005433,15994313,15979990,15978332,15968728,15963597,15950941,15950779,15944924,15930344,15929174,15929167,15921850,15919917,15899904,15896711,15882925,15880952,15878914,15878911,15878334,15872218,15870920,15870511,15869467,15867220,15864753,15863442,14989896,14988445,14988266,14985703,14984594,14977838,14966191,14871981,14769824,14760075,14754878,14749922,14749287,14748725,14747187,14744769,14735188,14729623,14726416,14724276,14719060,14716842,14712483,14707264,14702352,14681319,14675489,14669280,14667819,14655518,14654083,14645117,14630807,14625295,14623891,14623265,14616542,14607721,14604894,14597555,14596920,14594816,14582702,14566822,14557269,14555963,14550281,14535998,14534699,14532971,14532848,14530307,15856465,15856454,15844661,15843495,15841323,15838264,15833737,15831295,15817909,15816645,15812311,15809909,15809733,15804367,15800927,15789615,15784717,15778400,15777967,15767339,15767259,15756444,15754411,15754118,15731178,15720413,15713675,15707991,15704107,15695237,15692221,15673847,15667946,15654517,15653566,15645120,15645119,15632146,15630188,15628724,15609300,15608668,15599594,15596291,15591227,15574495,15569856,15569819,15569051,15550453,15550400,15544595,15543317,15533352,15525653,15504548,15501771,15489334,15485847,14517215,14514642,14507922,14505259,14501677,13680221,12970891,12970159,12957358,12956275,12954496,12939602,12920574,12914528,12907138,12891667,12885872,12883688,12883661,12882963,12881220,12875991,12871860,12865795,12860389,12855643,12842195,12839952,12838502,12837757,12835322,12832284,12821538,12821125,12813143,12800245,12800231,12800228,12789263,12784332,12782823,12777984,12771929,12770691,12767532,12767510,12763047,12761889,12759151,12754192,12751754,12750248,12748469,12743126,12727794,12720297,12718655,12701770,12698187,12692419,12684668,12679908,12677571,12667327,12665651,12664644,12664596,12664576,12654832,12642362,12636104,12628757,12626523,12600292,12598658,12592372,12591723,12579269,12578839,12555215,12533667,12532441,12532440,12519748,12519124,12505789,12498388,12493747,12488433,12485915,12485854,16463667,19913121,20489206,20538124,20558741,20559705,20588070,20592893,20594217,20599859,20620096,20627335,20628086,20628624,20631636,20644561,20645029,20673868,20676755,20686383,20688905,20717945,20720307,20724130,20803508,20808059,20808133,20405237,20688044,17092424,20878073,21179273,21187340,20069397,20697803,19946014,20032081,20397266,20846124,19567186,20027603,20304053,20514410,20514441,20519349,20536410,20582552,20644176,20733059,12839690,14558947,16563251,17672932,17697546,17956662,18069633,18069634,18250037,18344086,18347602,18478928,18663571,18691269,18827978,18976937,19040046,19118057,19141058,19170196,19173907,19188819,19218139,19221469,19241157,19304526,19319478,19346994,19351509,19423183,19423214,19437564,19462903,19463183,19465063,19467701,19468846,19469866,19487460,19494233,19495976,19497798,19505922,19538012,19549529,19558494,19568414,19578796,19584262,19585117,19608016,19616539,19618291,19621391,19625176,19627000,19632843,19638428,19639178,19647233,19655414,19661089,19667156,19669667,19671325,19671676,19675284,19679653,19680656,19692168,19706164,19723044,19723084,19723090,19723094,19723101,19723105,19723114,19741338,19748095,19748489,19748535,19755647,19756737,19763374,19769727,19773451,19776642,19777615,19788502,19789190,19794144,19797430,19797925,19802674,19804834,19816074,19820421,19825968,19836124,19845533,19846662,19862774,20472470,20473875,20503287,20530427,19862936,19864304,19885582,19887674,19889076,19890662,19893172,19898482,19900134,19900843,19915048,19917472,19917608,19920789,19925030,19930591,19933775,19940361,19940363,19940973,19948975,19949677,19954064,19954066,19965896,20011601,20016751,20028875,20033767,20034614,20042743,20043083,20050331,20052522,20068092,20068324,20075740,20086108,20093363,20099494,20110601,20144201,20144265,20145033,20145612,20169190,20177132,20178602,20193563,20204301,20204402,20236942,20299798,20308035,20332326,20332714,20348947,20364406,20378913,20388081,20403997,20416077,20431935,20445548,20448286,20452482,20453000,20167866,20819509,20827102,20889146,20213098,20372792,20446925,20537326,20592629,20664981 1580671,1580660,1581285,1581286,1581287,1581288,1581289,1642587,1642600,1642588,1642586,1642592,1642596,1642597,1642601,1642603,2300121,2289157,2300128,2300200,2300278,2300228,2300247,2300199,2300209,2300261,2290567,2300262,2300123,2300203,2300204,2300210,2300222,2300267,2300279,2300281,2300206,2298936,2300127,2300274,2300118,2300119,2300212,2300120,2300125,2300129,2300130,2300124,2300283,2308941,2300277,2300126,2300223,2300193,2300287,2300249,2300221,1625347,2317187,2317188,2317184,2317165,2317175,2317179,2317181,2317182,2317535,2317180,2317185,2317186 5743 NM_000963,AF044206,AF276953,AL033533,AY229989,AY382629,CH471067,D28235,L34209,U04636,U20548,U44805,AJ634912,AK292167,AY151286,AY462100,BC013734,BM978796,DA277667,L15326,M90100,HM473188,HC025790,HI519548 NP_000954,AAF85977,CAB41240,AAO38056,AAQ75702,EAW91216,BAA05698,AAN87129,AAA57317,AAD14842,CAG25548,BAF84856,AAN52932,AAR23927,AAH13734,AAA35803,AAA58433,P35354,Q6ZYK7,Q8IZA9,Q9NNY7,ABW03733,ABW03398,ADJ56342,CBH19826,CBX54355 Hs.196384 COX-2|COX2|GRIPGHS|PGG/HS|PGHS-2|PHS-2|hCox-2 PGH synthase 2|PHS II|cyclooxygenase 2b|cyclooxygenase-2|prostaglandin G/H synthase 2|prostaglandin G/H synthase and cyclooxygenase|prostaglandin H2 synthase 2 protein-coding 69107 PTH parathyroid hormone The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH). [provided by RefSeq] 1580863,1598941 19913121,20628086,20654748,20808842,12893275,1125201,12490859,12477932,12403624,12369776,12364326,12207101,12195069,12046039,11984699,11956184,11918225,11814621,11467957,11278902,10837469,10623601,10523031,9482662,9108031,8922395,8344299,7797503,6950381,6885073,6220408,4833516,4721748,4521809,4474131,3005800,2215618,2212001,2069952,1672845,1474331,1302009,728431,16169070,20452474,20471507,19723499,20634326,10499494,7797535,15080150,9927325,7721880,10913913,90087,14718574,19565936,19557980,19524129,19453261,19397786,19370057,19057839,19019998,18945829,18821330,18798227,18782355,18676680,18649177,18627264,18583400,18551993,18539556,18499553,18348699,18285546,18283239,18280230,18279669,18166826,18165223,18061978,18056632,17990294,17976926,17823083,17351276,17121534,16762954,16682833,16677544,16475791,16412323,16362385,16272640,16117875,16105030,16081646,15962290,15917161,15890770,15826940,15824859,15808916,15769857,15707954,15639837,15515479,15514034,15504937,15489334,15472173,15340161,15297458,15240611,15227728,15186723,15070925,15070914,15035617,14969386,14730973,14506618,12947048,12914574,12905817,20558332,20601288,12036966,20498246,18240029,19170196,19230880,19250270,19384851,19386515,19539290,19570881,19625176,19672814,19690432,19692168,19696213,19809994,19874204,19918796,19965540,20005908,20056760,20097749,20156921,20349051,20809279,21082232 1598941 5741 NG_008962,A29146,AC021269,CH471064,J00301,AA843660,BC096142,BC096143,BC096144,BC096145,BX103059,BX106232,V00597,NM_000315 P01270,NP_000306,CAA01956,EAW68494,EAW68495,AAA60215,AAH96142,AAH96143,AAH96144,AAH96145,CAA23843 Hs.37045 PTH1 parathormone|parathyrin|parathyroid hormone|parathyroid hormone 1 protein-coding 731312 PTH1R parathyroid hormone 1 receptor The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. [provided by RefSeq] 729796,1599978,1599980,1580863 8386612,8397094,8197183,8020952,7745008,7701349,1602151,17500070,17410535,17406357,17321669,17276526,17227205,17200368,17038311,16816927,16813525,16508749,17511743,16492667,16369896,16274647,16236727,16213899,16099817,16029167,15744035,15670850,15611080,15609321,15523647,15489334,15294324,15016722,14871409,14729622,12947048,12933685,12595070,12592371,12477932,12403624,12368206,12359237,12220636,12107160,12075354,11932319,11850620,11726668,10913300,10854575,10770955,10523019,10487664,9817594,9737850,9649554,9178745,9108031,8703170,18240029,19190955,19674967,19707467,19727905,19730683,19952062,20080964,20139972,20152661,20172855,20424473,12036966,9927325,9745456,10709993,19453261,19369447,19346515,19188335,19061984,18946036,18698360,18559376,18541021,18539702,18395846,18375760,18285546,18280230,18261460,17904173,17885720,17884816,17872377,20656684,19913121,20628086,20654748,20060342,20489161,20734064 729796,1599978,1599980 5745 BQ574694,NM_001184744,NM_000316,NG_008864,AB065462,AC109583,AF077526,CH471055,U22409,AY449732,BC031578,BC110388,BC112221,BC112247,CA412652,CR595263,L04308,U17418,X68596 NP_001171673,ADR83225,NP_000307,BAC05721,AAC27643,EAW64793,EAW64794,AAB60657,AAR18076,AAI10389,AAI12222,AAI12248,AAA36525,AAA56774,CAA48589,Q03431,Q0VGD7,Q71UK6 Hs.1019 MGC138426|MGC138452|PFE|PTHR|PTHR1 OTTHUMP00000209970|OTTHUMP00000209971|OTTHUMP00000209972|OTTHUMP00000209973|PTH/PTHr receptor|PTH/PTHrP type I receptor|PTH1 receptor|parathyroid hormone receptor 1|parathyroid hormone/parathyroid hormone-related peptide receptor|parathyroid hormone/parathyroid hormone-related protein receptor|seven transmembrane helix receptor protein-coding 1601727 PTH2 parathyroid hormone 2 TIP39 is related to parathyroid hormone (PTH; MIM 168450) and PTH-related protein (PTHRP; MIM 168470) and is a ligand for PTH receptor-2 (PTHR2; MIM 601469) (John et al., 2002 [PubMed 11861531]).[supplied by OMIM] 12036966,19401215,15489334,14988434,12754053,12559132,12477932,12098667,11861531,11818570,10854439,10526330,18240029 113091 NM_178449,AC010619,CH471177,AY037555,AY048588,BC093995,BC093997 NP_848544,EAW52480,AAK68689,AAL06597,AAH93995,AAH93997,Q96A98 Hs.339845 TIP39 tuberoinfundibular 39 residue protein|tuberoinfundibular 39 residue protein precursor|tuberoinfundibular 39 residues|tuberoinfundibular peptide of 39 residues protein-coding 730965 PTH2R parathyroid hormone 2 receptor The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. [provided by RefSeq] 1580863 8921382,7797535,19401215,18539702,18459453,18280230,15670850,15489334,14988434,12834174,12477932,11861531,10854439,9482662,12036966,18240029 5746 NM_005048,AC012362,AC019185,CH471063,U47124,U47129,AK294181,AK309827,AY497546,BC036811,CR617338,U25128 NP_005039,AAY14871,AAY15091,EAW70451,AAA96796,AAC50767,BAG57499,AAR90849,AAH36811,AAC50157,P49190,Q53SF6,Q53T35,ADR82689 Hs.570296 PTHR2 OTTHUMP00000206367|PTH2 receptor|parathyroid hormone 2 receptor|parathyroid hormone receptor 2 protein-coding 736996 PTHLH parathyroid hormone-like hormone The protein encoded by this gene is a member of the parathyroid hormone family. This hormone regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. This hormone is involved in lactation possibly by regulating the mobilization and transfer of calcium to the milk. The receptor of this hormone, PTHR1, is responsible for most cases of humoral hypercalcemia of malignancy. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, in-frame and downstream of the initiator AUG codon, to give rise to nuclear forms of this hormone. [provided by RefSeq] 1579870,1580863 12852260,10773581,9008714,10803599,8641188,19587161,19519497,19507249,19453261,19350667,19342773,19304784,19240061,19190955,19056930,18729185,18695921,18651620,18627264,18621740,18541021,18426836,18379031,18280230,18096456,18035481,18007586,17964713,17516841,17443683,17426287,17390372,17370040,17213971,16965770,16551631,16500729,16455237,16298826,15889157,15878959,15629138,15582709,15489334,15291755,15286039,15282196,15210588,15128746,15023531,14969386,14503917,12947048,12933685,12929929,2708388,9832460,2549037,8058749,10828849,90087,12850281,12727200,12647214,12586762,12581888,12576923,12549623,12538599,12504010,12477932,12391194,12374685,12364464,12359237,12220636,12210735,12201218,12000745,11997185,11456271,11401507,11159841,10947864,10873655,10373465,10066803,10050767,9801466,9391077,9144344,9108031,9048639,8982748,8753751,8683730,8396010,7708054,3616618,3290897,2928340,2885845,2829195,2744490,2288637,1954916,1915066,12850290,20876711,20428761,20496422,19913121,20628086,20015959,20060342,20556927,18240029,19487464,19584267,19596235,19616583,19674967,19727413,19730683,19825997,19952062,19959711,20035059,20049852,20170896,12036966 1579870 5744 NM_198965,NM_198966,NM_002820,NM_198964,AC008011,CH471094,M17183,M24349,M24350,M24351,X14304,AI569027,AI591151,AI760061,AK313476,BC005961,BG676028,BG679319,BG680355,BI752853,BI963162,BT007178,CR541882,J03580,J03802,M26958,M26959,M34071,NG_023197 NP_945316,NP_945317,NP_002811,NP_945315,EAW96572,EAW96573,EAW96574,EAW96575,EAW96576,AAA60221,AAA60358,AAA60359,AAA60360,CAA32480,BAG36261,AAH05961,AAP35842,CAG46680,AAA60216,AAA60218,AAO49791,AAO49793,AAA60217,P12272,Q53XY9,ABM87392,ABW03879 Hs.591159 BDE2|HHM|MGC14611|PLP|PTHR|PTHRP PTH-rP|PTH-related protein|osteostatin|parathyroid hormone-like peptide|parathyroid hormone-like related protein|parathyroid hormone-related protein protein-coding 732757 PTK2 PTK2 protein tyrosine kinase 2 This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. At least four transcript variants encoding four different isoforms have been found for this gene, but the full-length natures of only two of them have been determined. [provided by RefSeq] 2292571,2292561,2292562,2292572,2292554,2292569,2292570,2292555,2292558,2292559,2298729,2300402,2292576,2292604,2292632,2292557,2292563,2292568,2292579,2292556,2292560,2292584,729831,1581290,1580863,2292577 19403028,15532706,12558988,12473661,11359909,17879163,17828307,17675501,17620332,17537730,17515959,17514628,17469136,17443665,17397984,17332925,17327229,17317726,17240116,17215324,17213807,17192257,17113264,17096371,17088251,17081983,17081517,17028776,16998832,16920698,16912186,16899713,16842883,16705171,16638855,16620772,16523241,16452200,16412380,16406804,16371650,16354697,16308318,16298995,16270396,16260653,16251422,16247468,16244766,16226872,16189514,16159962,16153436,16141199,16136050,16105876,16054026,16039608,16007195,15975092,15951569,15895076,15866427,15855171,15850774,15778501,15743500,15736429,15681841,15657875,15657578,15652490,15640164,15611137,15557280,15455382,15369772,15331608,15247219,15210734,15175910,15166238,15161045,15157737,15155793,15121855,15102844,15102689,14702039,14699482,14670178,14637150,14617636,14584897,14578863,14553943,14521607,14500712,12954625,12939401,12907754,12904305,12884911,12881299,12847914,12844492,12815062,12803239,12794117,12748169,12700132,12659633,12651906,12611892,9342235,9257837,9230116,9169439,9079653,8986614,8941336,8922390,8879209,8816475,8770310,8668148,8660853,8654393,8649427,8609175,8247543,8054685,7997267,7766995,7744883,7692878,7622520,7589239,7537275,7529876,7529872,7509446,7479864,15528360,12615911,10085298,15494733,11577104,10753828,8810278,11919182,10330411,9442086,9054445,11463817,9858471,11857088,17043358,12629171,12551902,12543870,12531888,12529399,12477932,12435390,12387730,12376862,12370821,12297287,12242727,12226752,12216109,12215217,12174366,12169389,12167618,12135674,12119061,12110680,12058076,12054581,12049193,12023386,12011046,12005431,11988077,11986332,11980671,11950595,11927607,11916084,11891225,11886520,11809746,11807823,11799111,11779709,11668182,11602246,11514617,11513739,11496289,11476890,11468295,11389892,11382919,11369769,11337490,11331870,11314030,11278857,11278462,11278335,11278329,11160818,11113628,10938112,10931187,10925297,10873094,10808124,10806474,10769033,10655584,10587647,10545505,10526262,10512882,10455189,10446223,10430888,10400703,10384144,10082579,10048580,9867854,9837978,9822703,9756887,9750131,9708406,9658172,9642276,9553131,9507031,9497381,9461600,9422762,9418872,9360983,9360968,7515480,9148935,15494732,7597091,20233709,20378826,18846341,20811717,20869748,20924071,20576130,16202977,16291744,16581250,16760434,17236584,18086875,18184462,18497331,18713744,19423701,19435801,19454363,19471549,19473962,19479902,19481075,19500106,19561089,19563023,19574423,19615356,19633364,19635908,19644410,19656390,19664602,19671193,19695571,19695682,19736351,19737461,19787193,19798549,19823058,19826415,19857493,19889638,19889958,19917775,20018849,20056178,20089932,20109444,20124721,20145126,20150423,20198306,20389021,20441998,8493579,9786953,19021002,19032871,20127254,20191563,20621036,15077193,8649368,10822899,14688263,9636140,8422239,18029348,10801330,9325343,19545541,19492042,19475568,19364917,19339212,19318351,19303400,19301259,19297531,19268501,19242756,19199036,19150878,19147981,19141860,19098120,19089993,19082453,19055942,19042019,19029090,19020730,19006177,18987997,18948272,18922979,18832579,18695939,18680726,18669633,18632638,18593949,18562041,18549812,18519756,18493017,18452580,18449907,18414015,18353772,18349846,18332144,18322799,18292781,18292575,18263593,18256281,18247360,18223254,18215142,18210145,18206965,18198129,18182379,18078954,18078823,18073135,18061419,18032789,17999388,17982280,17967873,17904248,17888894,20151150,20515733,20407018,20936779,20140743,20160475,20400979,12149262,20725143,21071137,20177740,20597513,16344560,20959405,20966971 2292571,2292561,2292562,2292572,2292554,2292569,2292570,2292555,2292558,2292559,2298729,2300402,2292576,2292604,2292632,2292557,2292563,2292568,2292579,2292556,2292560,2292584,729831,1581290,2292577 5747 NM_153831,NM_005607,AC067931,AC100860,AC105009,AC105235,CH471060,AB209071,AB209083,AK055139,AK094999,AK124810,AK294873,AK301557,AK304356,AL832961,BC015361,BC028733,BC035404,BC043202,CR616513,L13616,BF434494,DA236314,DA994616,DB478006,NM_001199649 NP_722560,NP_005598,EAW92210,EAW92211,EAW92212,EAW92213,EAW92214,BAD92308,BAD92320,BAC04470,BAG57974,BAG63053,BAG65198,CAH56296,AAH28733,AAH35404,AAA58469,Q05397,Q59GM6,Q59GN8,Q658W2,Q8IYN9,Q8N9D7,ABW03595,NP_001186578 Hs.395482 FADK|FAK|FAK1|FRNK|pp125FAK FADK 1|FAK-related non-kinase polypeptide|focal adhesion kinase 1|protein tyrosine kinase 2|protein-tyrosine kinase 2 protein-coding 1346204 PTK2B PTK2B protein tyrosine kinase 2 beta This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1642605,729912,2292571,1642610,1642621,1642607,1581409,1642647,2292558,1580863,2292575 19913121,20628086,9091579,8995252,8849729,8838818,8798684,8792832,7673154,7544443,1718748,18669633,12960231,12857973,12628756,10356363,10194422,9362541,12354773,15494733,9344848,9858471,12629171,18832579,18794150,18765415,18667434,18571765,18437915,18390748,18367725,18365874,18198130,18075463,17950644,17906699,17785844,17716864,17581868,17563746,17551499,17537919,17329398,17205062,17192257,16998626,16949788,16945503,16840719,16783820,16774943,16760434,16514607,16433632,16421571,16055703,15967096,15944312,15881658,15778498,15695828,15588985,15585656,15539082,15499613,15489334,15213840,15128873,15128501,15105428,15070849,15050747,14969582,14963038,14961028,14729602,14684825,14676843,14585963,12943720,12933673,12893833,12844492,12794117,12626562,12606503,12578912,12576483,12522270,12515814,12486027,12477932,12458207,12244133,12231407,12096713,12082274,12077257,12063569,12011061,11916084,11856738,11850124,11820787,11818507,11774117,11751905,11744621,11739373,11683411,11668182,11493697,11478920,11461120,11352632,11337490,11311138,11278472,11238453,11162638,11149930,11036077,11007796,10961871,10821841,10797305,10777553,10769033,10747947,10713673,10708762,10702271,10521452,10518561,10354709,10329689,10322114,10022920,10022914,9750131,9621077,9565592,9560226,9545257,9512511,9446638,9442086,9422762,9402324,9242628,9104812,9099734,10082674,11937718,12771146,15557335,16202977,18086875,19415692,19458494,19509258,19561089,19706888,19718025,19880522,19919693,19930834,20028775,20056178,20074345,20215112,20308428,20379614,20381867,19106639,8497321,9020138,10867021,10880513,7529876,8939945,7499242,19358827,19207108,19086031,19047047,18954908,20543098,20966971,20688918,19661918,20800603 1642605,729912,2292571,1642610,1642621,1642607,1581409,1642647,2292558,2292575 2185 NM_004103,NM_173174,NM_173176,NM_173175,AC010856,AC124649,AF311103,CH471080,AB209085,AK128371,AY429564,BC036651,BC042599,BF796371,CR613708,D45853,L49207,U33284,U43522 NP_004094,NP_775266,NP_775268,NP_775267,EAW63553,EAW63554,EAW63555,EAW63556,BAD92322,BAC87404,AAH36651,AAH42599,BAA08289,AAB47217,AAC50203,AAC05330,Q14289,Q59GM4,Q6PID4 Hs.491322 CADTK|CAKB|FADK2|FAK2|FRNK|PKB|PTK|PYK2|RAFTK CAK beta|CAK-beta|FADK 2|calcium-dependent tyrosine kinase|cell adhesion kinase beta|focal adhesion kinase 2|proline-rich tyrosine kinase 2|protein kinase B|protein tyrosine kinase 2 beta|protein-tyrosine kinase 2-beta|related adhesion focal tyrosine kinase protein-coding 1319246 PTK6 PTK6 protein tyrosine kinase 6 The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. [provided by RefSeq] 1580863 20162673,16568091,10980601,8036022,19621240,19439179,19401189,19393627,18829532,18781181,18719096,18077133,17997837,16651629,16179349,15961400,15951569,15870689,15572663,15539407,15489334,15471878,15056653,14676834,12833144,12725532,12482964,12477932,12297019,12121988,11997104,11780052,11330822,11114724,10913193,10430081,9749526,9284935,8940083,8247543,20929863,19304789,19661439,20026641,19913121,20606012,20628086,20554524 5753 NM_005975,AL121829,CH471077,U61412,AK124082,AK301364,AK301691,AK315232,BC035843,CR591121,X78549 NP_005966,CAC15525,EAW75262,EAW75263,AAC34935,BAG62908,BAG63163,BAG37660,AAH35843,CAA55295,Q13882 Hs.51133 BRK|FLJ42088 breast tumor kinase|protein-tyrosine kinase 6|protein-tyrosine kinase BRK|tyrosine-protein kinase BRK protein-coding 1344975 PTK7 PTK7 protein tyrosine kinase 7 Receptor protein tyrosine kinases transduce extracellular signals across the cell membrane. A subgroup of these kinases lack detectable catalytic tyrosine kinase activity but retain roles in signal transduction. The protein encoded by this gene is a member of this subgroup of tyrosine kinases and may function as a cell adhesion molecule. This gene is thought to be expressed in colon carcinomas but not in normal colon, and therefore may be a marker for or may be involved in tumor progression. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq] 2293492,1580863 8882711,7478540,18029348,18471990,17671748,15683231,14702039,12754519,12477932,12427550,9154124,8247543,20558616 2293492 5754 NM_002821,NM_152882,NM_152880,NM_152881,AF447157,AF447158,AF447162,AF447164,AF447167,AF447170,AF447171,AF447173,AF447174,AF447175,AF447176,AL355385,CH471081,AB209350,AF531868,AF531869,AF531870,AF531871,AF531872,AK055648,AK093428,AK097717,AK131487,AK291016,AK292589,AK296931,AK296953,AL157486,BC002377,BC014626,BC046109,BC071557,BM811107,CR611115,CR625968,U33635,U40271 NP_002812,NP_690621,NP_690619,NP_690620,AAL39062,CAI13783,EAX04154,EAX04155,EAX04156,EAX04157,EAX04158,EAX04159,EAX04160,BAD92587,AAN04862,AAN04863,AAN04864,AAN04865,AAN04866,BAG51548,BAF83705,BAF85278,BAH12457,BAH12463,CAB75674,AAH46109,AAH71557,AAA87565,AAC50484,Q13308,Q59FV9,Q86X91,Q9NSQ6 Hs.90572 CCK4 CCK-4|OTTHUMP00000217016|colon carcinoma kinase 4|colon carcinoma kinase-4|protein-tyrosine kinase 7|tyrosine-protein kinase-like 7 protein-coding 1347658 PTK8 PTK8 protein tyrosine kinase 8 8247543 5755 1346742 PTLAH patella aplasia-hypoplasia 10417287 8830 733876 PTMA prothymosin, alpha 1580863 10854063,18976813,18856068,18391951,18240569,17929838,17876542,17188166,17081983,17046193,17012289,16940531,16669873,16628001,16478804,16353248,16341674,15657435,15556635,15489334,15325071,15242774,12943695,12634383,12522243,12477932,12062405,11967287,11897665,11759895,11727831,11528108,11310559,11282171,10891508,10675528,9373149,9334214,9099694,8886855,8814229,8592501,8485135,8415730,8125298,7916742,7913591,7588773,20121050,20430720,3532956,3474615,3467312,3466166,2785990,2708378,2209614,1814846,1632187,1612591,1545115,1426245,15861128,15607035,10938099 5757 NM_002823,AC073476,CH471063,L21693,L21696,M67480,S56449,AF348514,NM_001099285,CR599711,CR599993,CR600163,CR601088,CR601616,CR602673,CR605128,CR609111,CR610776,CR611351,CR611791,CR612313,CR612721,CR612758,CR616215,CR617850,CR619087,CR621405,CR621770,CR623382,CR623715,AF452640,AK223605,AK314106,AY169282,BC003510,BC013859,BC022433,BC034921,BC051265,BC066905,BC070480,BC071647,BC071879,BC098420,BM839980,BX647606,CR592067,CR592101,CR592291,CR593816,CR594103,CR595128,CR595284,CR597059,CR599378,CR624434,CR626005,M14483,M14630,M14794,M26708,CR623981 NP_001092755,NP_002814,AAY24150,EAW70969,EAW70970,EAW70971,EAW70972,EAW70973,EAW70974,EAW70975,AAB08706,AAB08709,AAA63239,AAA63240,AAD13882,AAK30146,AAP97694,BAD97325,BAG36799,AAO18189,AAH03510,AAH22433,AAH34921,AAH51265,AAH66905,AAH70480,AAH71647,AAH71879,AAH98420,AAA61183,AAA61182,AAA61184,AAA60213,P06454,Q15200,Q15204,Q53S24,Q7KZ52,Q7Z4R6,Q86YS2,Q8TBK9,ABM83889,ABM87209,Q15202 Hs.708083,Hs.459927 MGC104802|TMSA OTTHUMP00000204425|OTTHUMP00000204427|OTTHUMP00000204428|OTTHUMP00000204433|gene sequence 28|prothymosin alpha|prothymosin alpha protein|prothymosin, alpha (gene sequence 28) protein-coding 1352168 PTMAP1 prothymosin, alpha pseudogene 1 (gene sequence 26) 1612591 5758 NG_004833,AL662800,AL732442,AL845353,S41692,BX119957,BX908728,CR753328,CR759778 pseudo 1605722 PTMAP2 prothymosin, alpha pseudogene 2 (gene sequence 32) 2708378,1612591 5759 NG_002765,AC008629,J04799,S41639,S41653,S41694 pseudo 1354514 PTMAP3 prothymosin, alpha pseudogene 3 (gene sequence 34) 2708378,1612591 5760 NG_001180,AL121585,J04800,S38640,S41695 pseudo 1350218 PTMAP4 prothymosin, alpha pseudogene 4 (gene sequence 112) 8592501,2708378,1612591 5761 NG_001181,AC010175,AF257099,J04801,L20955,S38624 AAF71547,AAA36485,AAB08484,Q15254,Q9NYD3 PTMA pseudo 1347548 PTMAP5 prothymosin, alpha pseudogene 5 1612591 150928 NG_004798,AL354830,S38627 Q5VYG3 pseudo 1343132 PTMAP6 prothymosin, alpha pseudogene 6 170542 NG_001051,AL121920 dJ539E24.2 pseudo 1352728 PTMAP7 prothymosin, alpha pseudogene 7 8592501 326626 NG_002608,AL049872,L21695 pseudo 734337 PTMS parathymosin 1580863 10854063,15716277,12852257,12477932,10601862,9382927,8954154,2776490,2537638,2445824,1862085,16169070,19204726,19773279,20237496 5763 NM_002824,AC125494,CH471116,Y13586,BC007616,BC017025,BC128229,BE791815,BM451233,BM550529,M24398 NP_002815,EAW88742,CAA73913,AAH17025,AAI28230,AAA61185,O15256,P20962,ABM85051 Hs.504613 ParaT parathymosin protein-coding 736479 PTN pleiotrophin 1580863 16156786,15986444,15949466,15924335,15908427,15840658,15797857,15684595,15489336,15489334,15383276,15184074,15108072,15001987,14715276,14692702,12690205,12477932,11936877,11895915,11809760,11278720,11076863,11016659,10600521,10224041,9739080,9507007,9299545,8889548,8567685,8484780,8484754,8408430,8175719,7592855,1768439,1733956,2388713,1701634,1464612,1457401,20013808,10706604,2270483,11256614,19577542,19453261,19333097,19331172,19086053,19060246,19058221,18716876,18599487,18486628,18381592,17925408,17908800,17904822,17881084,17823238,17727841,17681947,17607711,17578909,17515817,17443289,17369488,17368428,17360581,17098867,17067552,16985521,16940294,16713569,16513091,16381901,16373346,16199533,16169070,20584902,16814777,19424734,19672298,19749796,19917672,20032204,20308059,20379614,20167557,20738847 5764 NM_002825,AC018728,AC078842,CH236950,CH471070,S50409,S60110,S60111,AK290488,AK313424,BC005916,BM968820,BT019692,CR450338,CR596476,CR609152,CR614046,CR619084,CR620419,CR624136,D90226,M57399,X52946 NP_002816,EAL24052,EAW83869,EAW83870,EAW83871,EAW83872,AAB24425,AAB26456,BAF83177,BAG36216,AAH05916,AAV38498,CAG29334,BAA14261,AAA35961,CAA37121,P21246,CAL37775 Hs.371249 HARP|HBGF8|HBNF|NEGF1 HB-GAM|HBBM|HBGF-8|HBNF-1|OSF-1|OTTHUMP00000208522|heparin affin regulatory protein|heparin binding growth factor 8|heparin-binding brain mitogen|heparin-binding growth factor 8|heparin-binding growth-associated molecule|heparin-binding neurite outgrowth-promoting factor 1|neurite growth-promoting factor 1|osteoblast-specific factor 1|pleiotrophin|pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) protein-coding 1342790 PTOS1 ptosis, congenital 1 (autosomal dominant) 9150162 5765 1315896 PTOV1 prostate tumor overexpressed 1 18451224,15713644,14657022,12975309,12598323,12477932,11313889,9110174,8619474,16169070,15778465,20562859 53635 NM_017432,AF238381,CH471177,AF218026,AJ617480,AK057817,AK294366,AY358168,BC015172,BC042921,BC065486,CR595960,CR607948,CR614735,CR623304,DB496336,U79287 NP_059128,AAF70635,EAW52552,EAW52553,EAW52554,EAW52555,EAW52556,EAW52557,EAW52558,EAW52559,EAW52560,EAW52561,EAW52562,AAG17268,CAE84582,BAG57628,AAQ88535,AAH15172,AAH42921,Q86YD1 Hs.587979 ACID2|DKFZp586I111|MGC71475 prostate tumor overexpressed 1|prostate tumor overexpressed gene 1 protein-coding 1352872 PTP4A1 protein tyrosine phosphatase type IVA, member 1 The protein encoded by this gene belongs to a small class of prenylated protein tyrosine phosphatases (PTPs), which contains a PTP domain and a characteristic C-terminal prenylation motif. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. This tyrosine phosphatase is a nuclear protein, but may primarily associate with plasma membrane. The surface membrane association of this protein depends on its C-terminal prenylation. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which implicated its role in the tumorigenesis. Studies in rat suggested that this gene may be an immediate-early gene in mitogen-stimulated cells. [provided by RefSeq] 10569806,19341304,18997816,18684031,18038187,17656357,17440740,16957164,16832410,16142898,15571731,15501285,15489334,14643450,14574404,12782572,12516958,12477932,12235145,11971983,11447212,11278933,10940933,10747914,9642300,9633825,9018080,17353931,20628624,19199380 7803 NM_003463,AF051160,AL135905,CH471143,AB451314,AB451444,AJ420505,AK312526,BC023975,BC045571,BG717869,BI222469,BU632706,CR596545,CR599216,CR602427,CR749458,U48296,U69701 NP_003454,AAC39836,CAC12761,CAI19287,EAW88494,EAW88495,BAG70128,BAG70258,BAG35425,AAH23975,AAH45571,CAH18292,AAB40597,AAB09080,Q93096,ABM81641,ABM84821,ACE87199,ACE86520 Hs.227777 DKFZp779M0721|HH72|PRL-1|PRL1|PTP(CAAX1)|PTPCAAX1 OTTHUMP00000016674|PTP(CAAXI)|Protein tyrosine phosphatase IVA1|protein tyrosine phosphatase type IVA 1|protein tyrosine phosphatase type IVA protein 1|protein-tyrosine phosphatase 4a1|protein-tyrosine phosphatase of regenerating liver 1 protein-coding 734245 PTP4A2 protein tyrosine phosphatase type IVA, member 2 The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants that encode two distinct isoforms have been described. [provided by RefSeq] 9514946,17353931,17440740,16957164,16832410,16710414,16381901,15489336,15489334,14643450,12516958,12477932,12235145,11734337,11447212,11076863,10940933,9018080,8661118,8529999,7490091,20226699,20841483,17666324 8073 NM_080391,AL136115,CH471059,L48722,L48723,L48937,AF208850,AK292703,AK297280,BC018662,BC070181,BC070182,BI545293,BI552091,CR601100,CR602795,CR603498,L39000,N21082,U14603,U48297,BM996809,NM_001195100,NM_001195101 NP_536316,CAI21726,EAX07578,EAX07579,EAX07580,EAX07581,EAX07582,EAX07583,EAX07584,AAB42169,AAB42170,AAB39331,AAF64264,BAF85392,BAG59751,AAH70182,AAB59575,AAA90979,AAB40598,Q12974,CAL37487,CAL38409,CAL38433,NP_001182029,NP_001182030 Hs.470477,Hs.712749,Hs.713025 HH13|HH7-2|HU-PP-1|OV-1|PRL-2|PRL2|PTP4A|PTPCAAX2|ptp-IV1a|ptp-IV1b PTP(CAAXII)|phosphatase of regenerating liver 2|protein tyrosine phosphatase IVA|protein tyrosine phosphatase IVA2|protein tyrosine phosphatase type IVA 2|protein-tyrosine phosphatase 4a2|protein-tyrosine phosphatase of regenerating liver 2 protein-coding 1318604 PTP4A3 protein tyrosine phosphatase type IVA, member 3 The protein encoded by this gene belongs to a small class of prenylated protein tyrosine phosphatases (PTPs). PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. This class of PTPs contain a PTP domain and a characteristic C-terminal prenylation motif. Studies of this class of PTPs in mice demonstrated that they were prenylated proteins in vivo, which suggested their association with cell plasma membrane. Overexpression of this gene in mammalian cells was reported to inhibit angiotensin-II induced cell calcium mobilization and promote cell growth. Two alternatively spliced variants exist. [provided by RefSeq] 1580863 17545014,18803057,19132388,19440036,19586538,19846928,19930715,19945467,20140626,20609352,20045518,20806969,20860603,17353931,9514946,19424625,19322925,19236507,19214221,19187591,19152186,19115206,19101992,19087692,19009246,19002188,18813812,18684031,18636172,18561324,18268019,18078820,18021371,17934070,17717498,17440740,17235563,17018620,16873432,16832410,16505094,16472776,16203771,15788667,15534108,15489334,15161639,15135076,14704153,14654542,12782572,12516958,12477932,12235145,11598267,11355880,10747914,9633825,17545077,19757198,20516731 11156 NM_032611,NM_007079,AC100803,CH471060,AF041434,AI742376,AJ276554,BC003105,BE778111,BT007303,U87168 NP_116000,NP_009010,EAW92231,AAC29314,CAC81757,AAH03105,AAP35967,AAB47560,O75365 Hs.43666 PRL-3|PRL-R|PRL3 potentially prenylated protein tyrosine phosphatase|protein tyrosine phosphatase type IVA 3|protein-tyrosine phosphatase 4a3|protein-tyrosine phosphatase of regenerating liver 3 protein-coding 1347938 PTP4AP1 protein tyrosine phosphatase type IVA pseudogene 1 15213447,8931711,8661118,8529999 5767 NG_004085,AC067852,U34879 PTP4AP1|h-PRL-1 pseudo 1605721 PTP4AP2 protein tyrosine phosphatase type IVA pseudogene 2 8931711,8661118 5769 NG_001182,AP000911 PTP4AP2 pseudo 1317037 PTPDC1 protein tyrosine phosphatase domain containing 1 The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 737633,1580863 14702039,12477932 737633 138639 NM_177995,NM_152422,AL360020,CH471089,AK094631,AK094773,AK124912,AK289692,AK310403,AY171233,BC031279,BC035699,BC051654,BC067120 CAM20720,NP_818931,NP_689635,CAI14621,EAW62875,EAW62876,BAC04391,BAC04421,BAF82381,AAO13168,AAH67120,A2A3K4 Hs.437943 FLJ42922|PTP9Q22 protein tyrosine phosphatase PTP9Q22|protein tyrosine phosphatase domain-containing protein 1 protein-coding 1343988 PTPLA protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq] 19241460,15489334,12477932,11054553,10644438,7829101,16385451,19913121,20628086,17207965 9200 NM_014241,AC069542,AF266848,CH471072,EF445016,AF114494,AW022173,AY455942,BC010353,BC027709,CR608689,GN344093 NP_055056,AAG10713,EAW86210,EAW86211,ACA06058,ACA06059,ACA06060,ACA06061,AAF21976,AAR22554,AAH10353,B0YJ81,CAY55982,ADQ31829 Hs.114062 CAP|HACD1 3-hydroxyacyl-CoA dehydratase 1|cementum attachment protein|protein-tyrosine phosphatase-like member A protein-coding 1605074 PTPLAD1 protein tyrosine phosphatase-like A domain containing 1 20562859,10747961,17353931,18160438,16516406,16303743,15345747,15302935,14702039,12477932,11042152,9373149,8125298,20139978,19656872 51495 BC035508,BC047685,BC058912,CR600449,H21635,NM_016395,AC011846,AC027220,CH471082,DQ251107,AF161470,AJ271091,AK027421,AK074857,AK074898,AK225120,AK299234,AL137412,BC000194,BC009056,BC011443,BC019873 AAH19873,AAH35508,AAH47685,AAH58912,Q9P035,NP_057479,EAW77735,EAW77736,ABB83547,AAF29085,CAB69070,BAB55101,BAC11249,BAC11277,BAG61266 Hs.512973 B-IND1|FLJ90376|HACD3|HSPC121 3-hydroxyacyl-CoA dehydratase 3|butyrate-induced protein 1|butyrate-induced transcript 1|hB-ind1|protein tyrosine phosphatase-like protein PTPLAD1|protein-tyrosine phosphatase-like A domain-containing protein 1 protein-coding 1601904 PTPLAD2 protein tyrosine phosphatase-like A domain containing 2 12477932 401494 NM_001010915,AL390882,AL662879,CH471071,BC114215,BX538052,BX648779,CR594128,CR608542 NP_001010915,CAH70162,EAW58626,AAI14216,CAD97990,Q5VWC8 Hs.716678 DKFZp686F01145|DKFZp686G24132|HACD4 3-hydroxyacyl-CoA dehydratase 4|protein tyrosine phosphatase-like protein PTPLAD2|protein-tyrosine phosphatase-like A domain-containing protein 2 protein-coding 1314901 PTPLB protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b 15024066,16303743,12477932,9110174,8619474,20677014,20379614 201562 NM_198402,AC020631,AC023165,AC025571,AC084039,AF052159,AK074605,AK289983,AL832532,AY191814,BC016990,BC049369,BC060839,CR613620 NP_940684,BAF82672,AAP20101,AAH49369,AAH60839,Q6Y1H2 Hs.705480 HACD2 3-hydroxyacyl-CoA dehydratase 2|protein-tyrosine phosphatase-like member B protein-coding 1349312 PTPLC protein tyrosine phosphatase-like (proline instead of catalytic arginine), member c 9198 1605594 PTPMT1 protein tyrosine phosphatase, mitochondrial 1 16344560,16341674,15489334,15247229,12477932,8889548,17207965 114971 NM_001143984,NM_175732,AC090559,AC104942,CH471064,AF277187,AK294640,AY333987,BC014048,BC018974,BC020242,BC073798,BC107573,BM702054,BM750411,BQ050653,CR602353,DA476984,DR004030 NP_001137456,NP_783859,EAW67905,AAK07545,BAG57819,AAP94732,AAH14048,AAH20242,Q8WUK0,ACE87127,ACE86451,ADQ32394 Hs.656205,Hs.727828 DUSP23|FLJ46081|MOSP|PLIP|PNAS-129 NB4 apoptosis/differentiation related protein|PTEN-like phosphatase|phosphoinositide lipid phosphatase|protein-tyrosine phosphatase mitochondrial 1 protein-coding 1343639 PTPN1 protein tyrosine phosphatase, non-receptor type 1 The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. [provided by RefSeq] 2289366,2293185,2290530,1625124,1625240,1580595,1580863 11106648,12907755,16291744,17159996,19167335,18074158,11742412,10748206,19491387,19435911,19208619,19008309,18957266,18925540,18854601,18846048,18840608,18819921,18716132,18660489,18636124,18571728,18387954,18332219,18253097,18077048,17974954,17643420,17634210,17560463,17554300,17509747,17403124,17339316,17333110,17240976,17185494,17135270,17092689,17081983,17081112,17056636,16713994,16677372,16652382,16644720,16505227,16407290,16344560,16289152,16249458,16115959,15998263,15919835,15919813,15894168,15866871,15737620,15715684,15592455,15588985,15504985,15504984,15489334,15258570,15235769,15189365,15097232,15039022,15031294,14976221,14722096,14514610,12857726,12802339,12802338,12634852,12573287,12554649,12547827,12504077,12477932,12468645,12446583,12424235,12414790,12388170,12377785,12365558,12354677,12237455,12176037,12082107,11836311,11833006,11788587,11780052,11756316,11703427,11694501,11579209,11506178,11316810,11163213,11136729,11007774,10940933,10889023,10660596,10480872,10350489,9922143,9600099,9566916,9553104,9499405,9418872,9407132,9391040,9355745,9261115,8999839,8940134,8940099,8826975,8647855,8621392,8491187,8389479,8128219,7935344,7693694,7545675,7544790,7540771,7539106,7514173,7510677,2546149,2164224,2157211,1739967,11726652,20601126,16005629,16582879,18029348,19578796,19589142,19782770,19948975,20000419,20059965,20101100,20118922,20131294,20177231,20236928,20416077,20504764,20578946,20628624,20682687,20493809,20388125,20615878,20864346,20627780 2289366,2293185,2290530,1625124,1625240,1580595 5770 BC015660,BC018164,BT006752,M31724,M33689,NM_002827,NG_012119,AL034429,AL133230,AY029236,CH471077,M33684,AK290638,AK299830,AK316563,AU117677,CS569123,HD122567,HI639118 AAH15660,AAH18164,AAP35398,AAA60223,AAA60157,P18031,Q96QT9,NP_002818,CAI23215,CAC00618,AAK31734,EAW75624,EAW75625,EAW75626,AAA60158,BAF83327,BAG61697,BAG38152,CAN59693,CBW46546,CBX55888 Hs.417549 PTP1B protein tyrosine phosphatase 1B|protein tyrosine phosphatase, placental|protein-tyrosine phosphatase 1B|tyrosine-protein phosphatase non-receptor type 1 protein-coding 731746 PTPN11 protein tyrosine phosphatase, non-receptor type 11 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq] 1581292,2289807,1641809,2293185,1642762,2299174,1299201,2290530,1601571,1580863 10734310,14560030,14665621,15574420,7681589,9658397,9792637,1280823,9054388,19351817,19336370,19290061,19287004,19275884,19261604,19240061,19206169,19189703,19166311,19160029,19133693,19133257,19120036,19096001,19077116,19066472,19056419,19047918,19020799,18832710,18829466,18827006,18728972,18712962,18660489,18647419,18643929,18640765,18617527,18593762,18577518,18564921,18562489,18559669,18543080,18381291,18372317,18331608,18246201,18241070,18223690,18203203,18159945,17972951,17962719,17942397,17910045,17875892,17717529,17672918,17664338,17561098,17546245,17515436,17497712,17453145,17403678,12370245,9528781,9491886,9485206,9344843,9285412,9254654,9195977,9195950,9188788,9162089,9110989,9110174,9062191,9029147,8995399,8986614,8959326,8943348,8943344,8912646,8910607,8810330,8766558,8702859,8662733,8639815,8638161,8619474,8530013,8505282,8216283,8183573,8135823,8041791,7935386,7894486,7691811,7681217,7673163,7642582,7589239,7559603,7523381,7522233,7493946,1370651,1281790,12824191,18519587,9847309,10382761,12051764,10903717,9973385,11360177,12135708,11782427,11334882,10391903,9388212,10080542,9362449,9632636,11689425,9188452,10801826,10350061,9774457,11266449,16729043,15128762,8879209,9422771,11328818,15856031,12582165,9600074,12325025,12270932,12177051,12176037,12161596,12161469,12115002,12108545,12070037,12060651,12058348,11992261,11986327,11956229,11940581,11896619,11812650,11806999,11786908,11781100,11743164,11739737,11714803,11704759,11602579,11594781,11544253,11491537,11489943,11466412,11447289,11433379,11432792,11414741,11389028,11323411,11287610,11278955,11223155,11134009,11036942,11018044,10991949,10976913,10962556,10949653,10946280,10940933,10880513,10800945,10790433,10747947,10681592,10681522,10671568,10660620,10655584,10650943,10617656,10521483,10499918,10457220,10449753,10212213,10209036,10206955,10082579,10068651,9918857,9867848,9824671,9756938,9632781,9565634,9535915,17339163,17330262,17272397,17235629,17214991,17213291,17211494,17211446,17185494,17177198,17143285,17053061,17052965,17028265,17020470,16920701,16914719,16905534,16825188,16762922,16684964,16679933,16598312,16533526,16523510,16518851,16498234,16488201,16380919,16360206,16358218,16354697,16344560,16339483,16306077,16250012,16208280,16094384,16053901,16032704,16030196,15987685,15985475,15985432,15956085,15951569,15951301,15948193,15940693,15928039,15888547,15834506,15747776,15725481,15723289,15708852,8195176,8890167,11477068,7688466,20840817,20631249,20671117,20472558,20512931,21047965,20578946,20700123,15690106,15644411,15592455,15563458,15556604,15539800,15521065,15520399,15489334,15389709,15385933,15384080,15282682,15240615,15187115,15121796,15001945,14991917,14982869,14961557,14701753,14644997,14522994,12960218,12959980,12796776,12774026,12752577,12739139,12717436,12707331,12676785,12634870,12552462,12543077,12531430,12529711,12529707,12522270,12477932,12403768,12399420,12384786,20634891,20543023,20398180,20734064,20880116,21048031,21060863,19690960,19874312,20673499,10022928,10327049,10381539,10386953,10871282,11136824,11157475,11353842,11382784,11751924,12237455,12681492,14534538,14687660,15031289,15062102,15102829,15133037,15169898,15507525,15588985,15601262,16337946,16963136,17554300,18758896,19172738,19352411,19427850,19449407,19509418,19528235,19582499,19589142,19589868,19681119,19706677,19725129,19735729,19737548,19768645,19773259,19776760,19820697,19822020,19864201,19915046,20004456,20006740,20080972,20170098,20186801,20237281,20302979,20308328,20453000,8197172,8541543,9282923,9379041,9405464,20237506,20064076,20577567,20718194,20855525 1581292,2289807,1641809,2293185,1642762,2299174,1299201,2290530,1601571 5781 NM_002834,NG_007459,AC004086,AC004216,CH471054,AK289854,AK312147,AU123593,BC007869,BC008692,BC025181,BC030949,BF515187,BT007106,BX537632,CR597346,D13540,EU779706,EU779707,EU779708,L03535,L07527,L08807,S78088,U79291,X70766 NP_002825,EAW98011,EAW98012,BAF82543,BAG35082,AAH08692,AAH25181,AAH30949,AAP35770,BAA02740,ACE60554,ACE60555,ACE60556,AAA36611,AAA17022,AAB21148,CAA50045,Q06124,Q16344,Q96I26 Hs.506852 BPTP3|CFC|MGC14433|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2 OTTHUMP00000166108|PTP-2C|protein tyrosine phosphatase, non-receptor type 11|protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)|protein tyrosine phosphatase-2|protein-tyrosine phosphatase 1D|protein-tyrosine phosphatase 2C|tyrosine-protein phosphatase non-receptor type 11 protein-coding 1346224 PTPN12 protein tyrosine phosphatase, non-receptor type 12 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 9497381,9422760,9135065,8887669,8626541,8349645,7929214,7520867,7509295,1932742,11577104,20029029,20519451,9285683,8454633,19167335,1472029,17608818,17329398,17130234,17081983,16964243,15831474,15588985,15489334,15231748,15146197,15122254,14707117,12853948,12714323,12690205,12674328,12665801,12477932,12052829,11971877,11950600,11731619,11711533,11432829,11337490,11314030,11163214,11158295,10940933,10625692,10400685,10092676,10085298,9920935,9857189,9847074,9804817,9748319,19919952,10400703,11342545,12231407,18029348 5782 NM_001131008,NM_001131009,NG_008394,AC006451,CH236949,CH471091,AB209524,AK289573,AK296764,AK303602,AK314236,BC026004,BC050008,CN395133,D13380,NM_002835,M93425,S69182,S69183,S69184 NP_002826,NP_001124480,NP_001124481,AAQ96881,EAL24198,EAW77036,EAW77037,BAD92761,BAF82262,BAG59344,BAG64617,AAH50008,BAA02648,AAA36529,AAB30045,AAB30046,AAB30047,Q05209,Q16128,Q16129 Hs.61812 PTP-PEST|PTPG1 OTTHUMP00000208615|protein-tyrosine phosphatase G1|tyrosine-protein phosphatase non-receptor type 12 protein-coding 1349944 PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq] 1580863 10918185,17657516,7536343,7929060,19240061,19004008,18684861,18195016,18038312,17982484,17638892,17240990,16888780,16572203,16489062,16344560,16306044,15894934,15782144,15663004,15611135,15489334,15371306,14702039,14596806,14516276,12870871,12839623,12724420,12477932,12436199,12354757,12095257,11959286,11884147,11696979,11356191,11329013,11106428,10951583,10826496,10704206,10660140,10544233,10526152,9920925,9882613,9835052,9305890,9261095,9079683,8824809,8287977,8071359,10400701,20839809,16498403,19672627,19734941,19892796,20039457,20379614,20453000,20620960,20501847 5783 D21211,DA625835,L34583,U12128,U12131,U12132,X79676,X80289,NM_080685,NM_080683,NM_006264,NM_080684,AC097657,AC105413,AC110076,AF101267,CH471057,AB208904,AF233323,AK056151,BC039610,BC139915,BC140777,BC144520,BG202767,BX647553,D21209,D21210 BAA04752,AAC41755,AAB60339,CAA56124,CAA56563,Q12923,Q4W5F5,Q59H55,Q6AWB9,NP_542416,NP_542414,NP_006255,NP_542415,AAY40972,EAX05965,EAX05966,EAX05967,EAX05968,BAD92141,AAF63474,AAH39610,AAI40778,CAH10380,BAA04750,BAA04751 Hs.436142 DKFZp686J1497|FAP-1|PNP1|PTP-BAS|PTP-BL|PTP1E|PTPL1|PTPLE APO-1/CD95 (Fas)-associated phosphatase|Fas-associated phosphatase-1|OTTHUMP00000219452|PTP-E1|fas-associated protein-tyrosine phosphatase 1|hPTPE1|protein tyrosine phosphatase 1E|protein tyrosine phosphatase, nonreceptor type 13|protein-tyrosine phosphatase 1, Fas-associated|protein-tyrosine phosphatase 1E|protein-tyrosine phosphatase PTPL1|tyrosine-protein phosphatase non-receptor type 13 protein-coding 1317339 PTPN14 protein tyrosine phosphatase, non-receptor type 14 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. The specific function of this PTP has not yet been determined. [provided by RefSeq] 1580863 7733990,18677119,17081983,16534812,15324660,14702039,12808048,12477932,10934049,10600535,10400706,10212280,7545953,16344560,20379614,20826270 5784 AF086517,AK056963,AL603838,AL929236,CH471100,Z23491,AK090596,AK291641,AK298120,AW192897,BC017300,BC101754,BC104803,X82676,AL592216,DA738908,NM_005401,AL445305,HQ116786,NG_028036 CAH73479,CAH72982,CAH70919,EAW93351,BAF84330,BAG60402,AAH17300,AAI01755,AAI04804,CAA57993,Q15678,Q6PJC3,NP_005392,CAH73027,ADN23590 Hs.193557 MGC126803|PEZ|PTP36 cytoskeletal-associated protein tyrosine phosphatase|protein-tyrosine phosphatase pez|tyrosine-protein phosphatase non-receptor type 14 protein-coding 1350462 PTPN17 protein tyrosine phosphatase, non-receptor type 17 5785 1323122 PTPN18 protein tyrosine phosphatase, non-receptor type 18 (brain-derived) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8950995,16341674,16303740,16094384,15951569,15588985,14660651,12554790,12477932,11971877,11163214,11158295,9804817,9422760,9265651 26469 AK297884,AK303804,AK311140,BC024280,BC031076,BC041562,BC052800,BI261717,BM789073,CA310199,CR608036,CR608379,CR609214,CR616748,CR623157,DN995571,X79568,NM_014369,NM_001142370,AC132479,CH471263 EAW55618,EAW55619,EAW55620,EAW55621,BAG60207,BAG64758,AAH24280,AAH41562,AAH52800,CAA56105,Q7Z637,Q8TA96,Q99952,NP_055184,NP_001135842,AAY24077,EAW55617 Hs.516390,Hs.726000 BDP1|PTP-HSCF OTTHUMP00000204518|brain-derived phosphatase|tyrosine-protein phosphatase non-receptor type 18 protein-coding 733575 PTPN2 protein tyrosine phosphatase, non-receptor type 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Three alternatively spliced variants of this gene, which encode isoforms differing at their extreme C-termini, have been described. The different C-termini are thought to determine the substrate specificity, as well as the cellular localization of the isoforms. Two highly related but distinctly processed pseudogenes that localize to distinct chromosomes have been reported. [provided by RefSeq] 2290530,1580863 12907755,16293614,2546150,19422935,19336676,19264985,19240061,19174780,19073967,18978792,18948751,18936107,18840653,18819921,18593762,18587394,18519826,18438405,17554300,17554261,17554260,16595549,15696169,15632081,15592458,15588985,15539083,15509512,15489334,15192089,15030318,14966296,14600148,12847239,12612081,12477932,12459463,12359225,12171910,12138178,11909529,11907034,11773439,10488121,9488479,9373149,9261175,8325634,8125298,7593185,2164224,1849097,1731319,15778465,19171783,19760754,20886065,20962850,21072187,20689057,10940933,20940300,19430480,19565500,19615732,19755676,19818778,19861958,19898481,19922411,19951419,20059965,20088380,20190752,20203524,20222910,20379614,20403149,20473312,17207965 2290530 5771 NM_080422,NM_080423,NM_002828,AP001077,AP002449,AP005482,CH471113,EF445017,AB209569,AK225706,AK290649,AK292570,AW592324,BC008244,BC016727,BG699440,CR604688,CR614824,CR615196,CR621000,M25393,M80737,M81478 NP_536347,NP_536348,NP_002819,EAX01532,EAX01533,EAX01534,EAX01535,EAX01536,EAX01537,EAX01538,EAX01539,ACA06062,ACA06063,ACA06064,BAD92806,BAF83338,BAF85259,AAH08244,AAH16727,AAA65997,P17706,Q59F91,Q96AU5,ADQ31949 Hs.654527 PTN2|PTPT|TC-PTP|TCELLPTP|TCPTP T-cell protein tyrosine phosphatase|T-cell protein-tyrosine phosphatase|tyrosine-protein phosphatase non-receptor type 2 protein-coding 1344444 PTPN20A protein tyrosine phosphatase, non-receptor type 20A The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes and several are mutated in human diseases. Chromosome 10q contains a segmental duplication resulting in multiple copies of the protein tyrosine phosphatase, non-receptor type 20 gene. The two nearly identical copies are designated as PTPN20A and PTPN20B. A third copy is only partially duplicated and contains a pseudogene, designated as PTPN20C. This gene encodes the more centromeric copy, PTPN20A. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 15790311,12477932 653129 AY704154,AY704155,AY704156,AY704157,AY704158,AY753191,BC036539,NM_001042396,NM_001042395,NM_001042387,NM_001042392,NM_001042394,NM_001042391,NM_001042393,NM_001042390,NM_001042389,NG_005598,AL450334,AL672108,AL050040,AY704141,AY704142,AY704143,AY704144,AY704145,AY704146,NM_001042397,AY704147,AY704148,AY704149,AY704150,AY704151,AY704152,AY704153,BC093750,BC113473,BX648913,CR933668,BC143394,BC171725 AAW28792,AAW28793,AAW28794,AAW28795,AAW28796,AAW28797,AAW88572,NP_001035856,NP_001035855,NP_001035854,NP_001035846,NP_001035851,NP_001035853,NP_001035850,NP_001035852,NP_001035849,NP_001035848,CAI15684,CAI15685,CAI15686,CAI12199,CAI12200,CAI12201,CAB43248,AAW28780,AAW28781,AAW28782,AAW28783,AAW28784,AAW28785,AAW28786,AAW28787,AAW28788,AAW28789,AAW28790,AAW28791,AAH93750,AAI13474,CAI45965,Q4JDL3,AAI43395,AAI71725 Hs.440733 CT126|MGC142033|PTPN20B|bA142I17.1|hPTPN20 OTTHUMP00000019514|OTTHUMP00000019516|OTTHUMP00000217123|OTTHUMP00000217124|OTTHUMP00000217125|OTTHUMP00000217126|OTTHUMP00000217127|OTTHUMP00000217128|OTTHUMP00000217171|OTTHUMP00000217173|OTTHUMP00000217174|OTTHUMP00000217177|OTTHUMP00000217223|cancer/testis antigen 126|tyrosine-protein phosphatase non-receptor type 20 protein-coding 1353047 PTPN20B protein tyrosine phosphatase, non-receptor type 20B The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes and several are mutated in human diseases. Chromosome 10q contains a segmental duplication resulting in multiple copies of the protein tyrosine phosphatase, non-receptor type 20 gene. The two nearly identical copies are designated as PTPN20A and PTPN20B. A third copy is only partially duplicated and contains a pseudogene, designated as PTPN20C. This gene encodes the more telomeric copy, PTPN20B. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 15790311,12477932 26095 BC143394,BC171725,NM_001042364,NM_001042363,NM_015605,NM_001042360,NM_001042362,NM_001042359,NM_001042361,NM_001042358,NM_001042357,AL358791,BX005072,CH471251,AL050040,AY704141,AY704142,AY704143,AY704144,AY704145,AY704146,AY704147,AY704148,NM_001042365,AY704149,AY704150,AY704151,AY704152,AY704153,AY704154,AY704155,AY704156,AY704157,AY704158,AY753191,BC036539,BC093750,BC113473,BU567804,BX648913,CR933668 AAI43395,AAI71725,NP_001035824,NP_001035823,NP_001035822,NP_056420,NP_001035819,NP_001035821,NP_001035818,NP_001035820,NP_001035817,NP_001035816,CAI14088,CAI14089,CAI14090,CAI23640,CAI23641,CAI23642,EAW50662,CAB43248,AAW28780,AAW28781,AAW28782,AAW28783,AAW28784,AAW28785,AAW28786,AAW28787,AAW28788,AAW28789,AAW28790,AAW28791,AAW28792,AAW28793,AAW28794,AAW28795,AAW28796,AAW28797,AAW88572,AAH93750,AAI13474,CAI45965,Q4JDK3,Q5H9Q9,Q5T1G4,Q9Y406,AAI41461 Hs.499552,Hs.440733 DKFZp566K0524|DKFZp781P23155|bA42B19.1 OTTHUMP00000019540|OTTHUMP00000019542|OTTHUMP00000217230|OTTHUMP00000217231|OTTHUMP00000217233|OTTHUMP00000217235|OTTHUMP00000217236|OTTHUMP00000217237|OTTHUMP00000217238|OTTHUMP00000217239|OTTHUMP00000217240|OTTHUMP00000217241|OTTHUMP00000217244|OTTHUMP00000217247|protein tyrosine phosphatase, non-receptor type 20 protein-coding 1351239 PTPN20C protein tyrosine phosphatase, non-receptor type 20C 653045 NG_005691,AC013284,AL603966 bA164N7.3 pseudo 734205 PTPN21 protein tyrosine phosphatase, non-receptor type 21 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq] 1580863 7519780,19000305,18223254,16918960,16344560,15143158,11013262,10585123,9685376,7838537,12477932,20923765,8889548 11099 NM_007039,AL049834,AL162171,AL353786,CH471061,AI800682,AK310480,BC143846,BC143847,BM930068,CR593033,DA860560,X79510 NP_008970,CAD19000,EAW81382,EAW81383,CAA56042,Q16825,Q8WX29,AAI67856 Hs.437040 PTPD1|PTPRL10 dJ1175B15.2 (protein tyrosine phosphatase, non-receptor type 21)|protein tyrosine phosphatase D1|protein-tyrosine phosphatase D1|tyrosine-protein phosphatase non-receptor type 21 protein-coding 1317504 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 20739780,20453842,16461343,19167335,10068674,19527514,19516267,19503742,19473815,19470526,19419839,19406179,19371084,19357851,19343596,19328948,19327125,19265110,19264985,19248096,19237203,19210888,19210878,19188433,19180477,19180256,19141582,19115939,19107641,19090780,19084113,19073967,19046301,19034456,19028372,19019335,18981062,18978792,18923449,18839133,18821667,18818748,18812394,18804983,18794853,18764813,18759295,18710467,18687223,18668548,18587394,18580482,18578611,18576360,18556337,18535030,18533277,18489434,18474664,18466535,18466531,18466515,18466513,18466483,18466472,18466461,18462498,18426414,18398946,18375974,18375541,18341666,18310307,18305142,18301444,18299186,18292987,18252906,18248681,18240242,18204446,18200060,18194462,18194365,18179648,18156150,18078626,18065500,18056891,18056643,18037273,18028494,18001305,17982455,17961971,17961776,17941906,17934143,17931634,17878369,17868256,17854359,17804836,17729039,17697317,17696275,17666451,17666450,17665434,17661906,17660222,17660221,17632545,17624340,17600378,17579671,17554300,17554260,17553139,17493151,17472988,17452059,17436241,17341507,17334650,17259401,17237219,17223967,17170052,17159887,17158136,17148556,17135225,17133608,17133579,17130532,17092257,17066073,17054449,17034023,17003357,17000021,16893384,16870103,16868974,16829308,16764945,16760194,16750991,16697661,16690758,16690411,16671954,16671953,16635271,16614815,16539704,16507123,16507117,16490755,16470599,16464986,16456530,16437561,16391555,16385499,16380915,16344560,19177473,20083307,20522204,16322396,16320352,16279844,16279843,16277672,16273109,16229750,16185328,16185327,16175503,16164701,16163373,16112033,16107870,16098055,16078327,16052563,16052172,16015369,15986374,15943829,15934099,15933742,15883854,15875058,15790351,15759012,15734872,15674368,15641088,15641066,15620463,15531553,16339849,15504986,15273934,15208781,15004560,12764153,12477932,11882361,10940933,9582365,1373816,19438904,19913121,20141578,20549515,20553389,20560680,20560812,20604892,20615141,20628086,20696024,20707220,20805278,19760754,20822712,20848568,20849903,20881011,20888443,20921970,20962850,20965855,20973039,20975833,21054240,21078766,21080357,20538612,19430480,19503088,19563523,19567623,19586056,19648126,19648290,19693092,19714314,19714585,19741008,19780033,19815302,19833889,19895409,19898480,19951419,19956096,20014019,20015215,20016199,20033399,20039785,20070289,20088380,20089178,20090771,20101775,20166877,20176734,20203524,20233754,20331840,20353580,20378605,20388740,20403149,20410501,20438787,20439292,20445565,20476860,20498205,20510318,20518841,20204370 26191 AA836401,EF064714,NM_001193431,NM_015967,NM_012411,NG_011432,AL137856,CH471122,AF001846,AF077031,AF150732,AK303124,AK310570,AK310698,BC017785,BC071670,DB145424,DN997966,U69700,GU479452 ABK41897,NP_001180360,NP_057051,NP_036543,CAI19068,CAI19069,EAW56573,EAW56574,EAW56575,EAW56576,AAD00904,AAD27764,AAF67472,BAG64230,AAH17785,AAH71670,AAB09079,Q93095,Q9P0U2,Q9Y2R2,ADD59979 Hs.535276 LYP|LYP1|LYP2|PEP|PTPN8 OTTHUMP00000013721|PEST-domain phosphatase|hematopoietic cell protein-tyrosine phosphatase 70Z-PEP|lymphoid phosphatase|lymphoid-specific protein tyrosine phosphatase|protein tyrosine phosphatase, non-receptor type 8|tyrosine-protein phosphatase non-receptor type 22 protein-coding 1348801 PTPN23 protein tyrosine phosphatase, non-receptor type 23 1580863 19340315,18835089,17959146,16720300,16408268,16344560,15489334,14702039,12477932,12168954,11095967,10819331,20936779,16169070,18762272 25930 AL110210,BC004881,BC020380,BC027711,BC089042,BT009758,DA093189,NM_015466,AC099778,CH471055,AB025194,AB040904,AF169350,AF290614,AK055157,AK289502,AK295877,AK295888,AK299906 BAG61747,CAB53676,AAH04881,AAH27711,AAH89042,AAP88760,Q9H3S7,NP_056281,EAW64822,EAW64823,EAW64824,BAB19280,BAA95995,AAD50276,AAK28025,BAF82191,BAG58674,BAG58683 Hs.25524 DKFZp564F0923|HD-PTP|HDPTP|KIAA1471|PTP-TD14 His-domain protein tyrosine phosphatase|OTTHUMP00000210335|his domain-containing protein tyrosine phosphatase|protein tyrosine phosphatase TD14|tyrosine-protein phosphatase non-receptor type 23 protein-coding 1348879 PTPN2P1 protein tyrosine phosphatase, non-receptor type 2 (pseudogene 1) 8325634 5772 1352343 PTPN2P2 protein tyrosine phosphatase, non-receptor type 2 (pseudogene 2) 8325634 5773 XM_301455 1322781 PTPN3 protein tyrosine phosphatase, non-receptor type 3 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20936779,1648725,12207026,18978678,17947517,17921143,17588219,17166906,16930557,16344560,15588985,14702039,14672952,12477932,10940933,10364224,9341175,8253532,7874267,1626183,15778465,12907755,19167335,20332238 5774 NM_002829,NM_001145370,NM_001145369,NM_001145372,NM_001145371,NR_026918,AL162733,AL359963,AL450025,CH471105,AK096975,AK295875,AK296265,AK296388,AK303608,AK304434,AK308349,AK316066,AK316118,BC033716,BC063287,BC126117,BC143848,BU624870,BX648253,BX648735,NM_001145368,CR749204,DB173093,DB306298,DC342461,DQ104439,M64572,S39392,S76309,W15441 NP_001138840,NP_002820,NP_001138842,NP_001138841,NP_001138844,NP_001138843,CAH73386,CAH71094,CAH73252,EAW59045,EAW59046,EAW59047,BAH12211,BAH12296,BAH12339,BAH13995,BAH14184,BAH14437,BAH14489,AAH33716,AAI26118,AAI43849,CAH18062,AAZ20185,AAA35647,AAB22439,AAB33583,P26045,Q45VJ3,Q68E08,Q8N4S3,ADR83422 Hs.436429 DKFZp686N0569|PTPH1 OTTHUMP00000021885|PTP-H1|cytoskeletal-associated protein tyrosine phosphatase|protein tyrosin phosphatase H1|protein-tyrosine phosphatase H1|tyrosine phosphatase|tyrosine-protein phosphatase non-receptor type 3 protein-coding 1316480 PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. 1580863 1648233,16169070,15489334,12477932,11054567,10940933,10748123,8917530,8910369,17474147,18614237 5775 NM_002830,AC016691,AC069154,AC092455,AC104061,AC104668,AC116632,CH471103,AK314836,BC010674,BX648614,M68941,AK301218 NP_002821,AAX88858,AAX82012,AAY24016,AAY14805,EAW95231,EAW95232,BAG37355,AAH10674,AAA36530,P29074,Q4ZG31,Q53Q76,Q53QV5,Q580X3,BAH13435 Hs.469809 PTPMEG|PTPMEG1 MEG|PTPase-MEG1|megakaryocyte phosphatase|megakaryocyte protein-tyrosine phosphatase|protein tyrosine phosphatase MEG1|protein-tyrosine phosphatase MEG1|tyrosine-protein phosphatase non-receptor type 4 protein-coding 736589 PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 7490079,2263249,19000305,16441242,14702039,12477932,11983687,9857190,9272866,1714595,20379614,20427654 84867 NM_006906,NM_001039970,NM_032781,AC103974,CH471064,U27831,AK027333,AK055450,AK090923,AK127312,AK294374,AK294673,AK295604,AK316270,AL832541,BC039897,BC046435,BC064807 NP_008837,NP_001035059,NP_116170,EAW68363,EAW68364,EAW68365,EAW68366,EAW68367,EAW68368,AAA87555,BAC03548,BAG54479,BAH11749,BAH11844,BAH12122,BAH14641,CAD38632,AAH39897,AAH46435,AAH64807,P54829,Q86TL3,Q86TL6 Hs.79092 FLJ14427|PTPSTEP|STEP OTTHUMP00000165938|OTTHUMP00000165960|neural-specific protein-tyrosine phosphatase|protein tyrosine phosphatase, non-receptor type 5|protein-tyrosine phosphatase striatum-enriched|striatum-enriched protein-tyrosine phosphatase|tyrosine-protein phosphatase non-receptor type 5 protein-coding 734188 PTPN6 protein tyrosine phosphatase, non-receptor type 6 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq] 2290530,1580863 20424160,18377662,19096001,18948549,12438221,9244303,12882840,10660620,1732748,7781604,10506221,9774457,19543515,19398961,19234487,19204726,19166311,19147543,18502033,18441283,18209728,18174230,18086677,17579069,17561098,17404032,17272397,17239936,17227821,17218319,17143285,17142110,17079228,17046078,16501054,16482509,16453023,16344560,16326706,15870198,15831474,15746253,15701718,15588985,15579525,15574429,15557341,15549731,15489334,15456853,15339845,15269224,15197735,15187115,15184070,15070900,14976049,14691303,14672952,14662855,14630083,14551136,14500659,12917349,12832410,12796776,12791978,12774026,12734331,12705885,12646642,12591278,12571228,12482860,12477932,12468645,12468540,12459556,18543080,11114375,11551923,8627166,12051764,10350061,7673163,12163025,12196526,16169070,18029348,18604210,19104650,19167335,19542910,19551406,19591923,19749791,19789387,19838216,19874234,20068065,20117097,20130595,20351292,7528577,9148918,20687222,18952289,12393607,12361947,12198247,12176909,12176037,12145687,12145285,12130517,11987243,11986327,11964172,11920268,11907066,11895767,11858824,11826756,11812650,11786908,11723252,11714803,11544253,11511520,11489943,11414741,11356834,11337495,11328818,11294838,11278955,11266449,11178971,11162587,11160222,11042209,11027300,11001933,10940933,10903736,10903717,10835420,10800945,10790433,10764762,10747947,10660565,10640770,10585470,10574931,10521452,10506573,10497187,10488096,10458769,10457220,10229828,10228003,10206955,10082557,10072516,9973385,9890995,9867848,9842885,9813145,9774441,9765283,9740800,9733788,9712903,9632768,9632636,9590210,9531263,9528781,9520455,9507021,9485206,9482905,9405464,9379041,9373149,9368621,9305905,9285412,9285411,9261115,9254654,9211920,9162089,9151699,9074930,9064344,9045636,9029147,8943354,8943344,8790380,8780698,8760799,8692915,8647855,8638162,8632004,8574854,8541543,8524272,8246974,8125298,8114715,7889566,7716523,7684496,7665165,7629131,7618087,7539106,7539038,7518460,7512963,1736296,1652101,1639416,10617656,10772872,9788431,19950550,20398180,20696858 2290530 5777 CR986427,DA431502,DA868001,DC297194,M74903,M77273,NM_080549,NM_002831,AB079851,CH471116,U15528,U15536,U15537,U47924,AF178946,AK223629,AK290421,AK298470,AK300167,AK308230,AK313379,BC002523,BC007667,BG754792,BM006699,BM742181,BT007390,CR590933,NM_080548,HI573994,HI573996 AAA35963,AAA36610,P29350,Q53EL0,Q53XS4,Q9UK67,ABM82872,ABM86059,NP_536858,NP_536859,NP_002822,BAC81774,BAC81775,EAW88700,EAW88701,EAW88702,EAW88703,EAW88704,AAA82879,AAA82880,AAB51322,AAB51323,AAD53317,BAD97349,BAF83110,BAG60682,BAG61949,BAG36177,AAH02523,AAH07667,AAP36054,CBX47486,CBX47487 Hs.63489 HCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1 hematopoietic cell phosphatase|hematopoietic cell protein-tyrosine phosphatase|protein-tyrosine phosphatase 1C|protein-tyrosine phosphatase SHP-1|tyrosine-protein phosphatase non-receptor type 6 protein-coding 1605720 PTPN7 protein tyrosine phosphatase, non-receptor type 7 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The noncatalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19167335,1530918,7545170,19053285,16441242,16226275,15489334,12592337,12477932,12161469,12058348,12056917,11704759,10940933,10702794,10559944,10415025,10206983,9624114,9373149,8309248,8125298,1510684,1370651,20668459 5778 AK301757,AK301980,AK302869,BC001746,BG340453,BT009848,D11327,M64322,S78090,AK311661,DC399028,NM_001199797,NR_037663,NR_037664,NM_080588,AL592300,CH471067,AF394064,AK127214,AK225920,AK293186,AK301051,NM_002832 BAG63218,BAG63388,BAG64051,AAH01746,AAP88850,BAA01946,AAA59531,P35236,Q8NFX3,Q5SXQ0,CAI13109,NP_001186726,NP_002823,NP_542155,CAI13108,CAI13111,EAW91400,EAW91401,EAW91402,EAW91403,EAW91404,EAW91405,AAM69538,BAG54453,BAG56727,BAG62662 Hs.402773 BPTP-4|FLJ18703|HEPTP|LC-PTP|LPTP|PTPNI OTTHUMP00000216732|OTTHUMP00000216736|dual specificity phosphatase 1|hematopoietic protein-tyrosine phosphatase|protein-tyrosine phosphatase LC-PTP|protein-tyrosine phosphatase, nonreceptor-type, stress induced|tyrosine-protein phosphatase non-receptor type 7 protein-coding 1353327 PTPN9 protein tyrosine phosphatase, non-receptor type 9 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq] 1580863 1557404,12907755,19167335,17387180,16679294,16189514,15489334,15322554,14662869,12920026,12477932,12112018,11711529,10940933,20189936,20335174 5780 NM_002833,AC105036,AC105137,CH471136,BC010863,BC071574,BT007405,CR606925,M83738 NP_002824,EAW99247,EAW99248,AAH10863,AAH71574,AAP36073,AAA60226,P43378,Q6IQ43,ABM81912 Hs.445775 MEG2|PTPMEG2 PTPase MEG2|PTPase-MEG2|protein-tyrosine phosphatase MEG2|tyrosine-protein phosphatase non-receptor type 9 protein-coding 1354355 PTPNS1L protein tyrosine phosphatase, non-receptor type substrate 1-like 10591208,9847074 23755 NG_002457,AC004832 AAF19260 PTPNS1L pseudo 736543 PTPRA protein tyrosine phosphatase, receptor type, A The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq] 1580863 2169617,18768480,18216165,18211905,18183590,17212655,17081983,16338072,15951569,15588985,15489334,14702039,14592422,14555984,12626515,12592337,12582170,12477932,12468645,12376545,11923305,11796915,11780052,11676480,11498265,11496365,11436129,11357934,11099722,11042685,10893241,10787408,10777529,10748206,10698938,10562275,9878055,9822658,9535845,9357975,9261115,9183007,8980254,8670803,8647855,7691597,15592455,7518772,1383828,9263011,11401727,20472558,20562859,2175890,2172030,2170109,2166945,1639427,1611910,18728972,19497848,20208566,8493579 5786 NM_002836,NM_080840,NM_080841,AL121905,AL161656,CH471133,AB209702,AI284972,AK090743,AK290233,BC027308,BI597187,BQ213974,BX571753,CR595941,CR623898,M34668,X53364,X54130,X54890,AK294499,AK294990,AK297293,AK297647 NP_002827,NP_543030,NP_543031,CAC10336,CAC10337,CAI21708,CAI21709,CAI21710,CAI21711,EAX10561,EAX10562,EAX10563,BAD92939,BAF82922,AAH27308,CAE11878,AAA36528,CAA37447,CAA38065,CAA38662,P18433,Q59EV9,Q5JWG0,Q5JWG1,Q5JWG2,Q5JWG3,ABM82081,ABM85260,BAH11790,BAH11942,BAH12540,BAH12641 Hs.269577 HEPTP|HLPR|HPTPA|HPTPalpha|LRP|PTPA|PTPRL2|R-PTP-alpha|RPTPA Leukocyte common antigen-related peptide (protein tyrosine phosphate)|OTTHUMP00000030064|PTPLCA-related phosphatase|PTPase-alpha|protein tyrosine phosphatase, receptor type, alpha polypeptide|protein-tyrosine phosphatase alpha|receptor-type tyrosine-protein phosphatase alpha|tyrosine phosphatase alpha protein-coding 1314242 PTPRB protein tyrosine phosphatase, receptor type, B The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19167335,2170109,18361428,17081983,16344560,15638728,15144186,14702039,12907755,12700241,12615970,12477932,12234928,12068634,11313993,10769382,10706604,10557082,9584610,9118959,9049255,7628014,7575486,2169617,1645282,1486802,1373652,9263011,16101282,19116766,19136612,19451274,20201926,20301196,20379614 5787 NM_001109754,NM_002837,AC025569,AC083809,CH471054,AK023720,AK096717,AK097371,AK126121,AK128562,BC051329,BC101679,BC113463,BC143356,BC143360,BE042873,BX647238,BX648245,BX648771,CR749546,DA883934,X54131 NP_001103224,NP_002828,EAW97253,EAW97254,BAC86450,BAC87502,AAH51329,AAI01680,AAI13464,AAI43357,AAI43361,CAH10386,CAE46198,CAH18347,CAA38066,P23467,Q68D73,Q6AWC4,Q6MZF6,Q6ZR19,Q6ZTX7,Q86VA4 Hs.434375 DKFZp686E2262|DKFZp686H15164|FLJ44133|HPTP-BETA|HPTPB|MGC142023|MGC59935|PTPB|R-PTP-BETA|VEPTP VE-PTP|protein tyrosine phosphatase, receptor type, beta polypeptide|protein-tyrosine phosphatase beta|receptor-type tyrosine-protein phosphatase beta|vascular endothelial protein tyrosine phosphatase protein-coding 736371 PTPRC protein tyrosine phosphatase, receptor type, C The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus belongs to receptor type PTP. This gene is specifically expressed in hematopoietic cells. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Four alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq] 1358566,1580863,1599983 20505149,20932480,20119835,1970422,14625311,2845400,10358156,1793833,9197241,15275963,18029348,11827988,19111528,19059880,18840711,18719244,18680516,18669861,18634151,18511809,18312479,18292296,18174230,18157742,17897956,17823079,17803443,17692374,17656643,17635802,17591854,17524482,17378731,17242371,17172930,17122895,16999868,16998493,16955142,16857986,16538473,16524887,16505159,16503409,16393978,16378074,16360841,16344560,16332974,16269626,16247487,16172127,15963758,15960938,15946252,15808544,15687496,15684325,15626731,15603882,15584483,15548260,15333587,15314282,15302935,15240561,15231748,15057492,15018649,15014144,14983037,14979481,14726805,14684825,14641523,14636588,14631169,14565647,14525771,12880639,12864992,12820694,12716971,12633939,12626536,12618866,12595907,12589045,12589038,12574355,12560083,12556471,12519755,12499376,12477932,12430875,12393728,12386161,12376545,12354383,12147336,12100025,12073144,15214936,12028593,2956090,2853967,2824653,2550143,2531281,2524382,2169617,1976695,1834739,1695146,1680916,1655467,1648262,1373652,1355979,11804554,7539755,9573028,10229804,11551930,2971730,12022705,12008046,11994288,11975983,11909961,11877294,11862398,11841494,11778694,11564800,11548742,11528386,11369760,11254687,11201744,11145714,11101853,10921916,10702677,10700239,10683443,10490978,10473580,10415030,10330160,10228003,10066810,9973453,9624153,9535845,9403695,9368621,9148925,8980254,8955171,8703037,8663450,8576115,8570203,8557683,8537410,8473339,8157290,7961877,7737297,7537381,7526385,7516335,20139978,15624328,18992193,19167335,19246294,19332764,19454697,19481264,19546439,19585516,19635795,19879912,19898481,20093141,20164196,20231690,20309874,20191119,20973039,21067564 1358566,1599983 5788 NM_002838,NM_080921,NM_080923,NG_007730,AF492459,AL157402,AL355988,AY539659,AY539667,AY539675,AY539683,AY539691,AY539699,CH471067,M23463,M23492,M29253,X14896,AK130573,AK292131,AK299986,AK303539,AK307635,AK308217,AK310898,AY429565,AY567999,BC014239,BC017863,BC031525,BC121086,BC121087,BC127656,BC127657,BC148257,CR621867,DA670254,DA948670,Y00062,Y00638,HC921483,HD063885 NP_002829,NP_563578,NP_563580,AAM12758,CAI15639,CAI15640,CAI15641,CAI15642,CAI15643,CAI15644,CAI15645,CAI15646,CAI15647,CAI19377,CAI19378,CAI19379,AAS46962,AAS46922,AAS46930,AAS46938,AAS46946,AAS46954,EAW91300,EAW91301,EAW91302,EAW91303,AAG26082,AAD15273,AAA59497,BAF84820,BAG61807,BAG64565,AAS75254,AAH14239,AAH17863,AAI21087,AAI21088,AAI27657,AAI27658,AAI48258,CAA68269,CAA68669,P08575,Q0VAE8,Q5T9L9,Q5T9M0,Q5T9M2,Q5T9M3,Q5T9M4,Q5T9M5,Q6LDN6,Q6PJK7,Q6Q1P2,Q6QIM3,Q6QIN1,Q6QIN9,Q6QIQ5,Q6QIR3,Q8TD79,Q9H3X6,CBU30438,CBU83087 Hs.654514 B220|CD45|CD45R|GP180|LCA|LY5|T200 CD45 antigen|L-CA|OTTHUMP00000033816|OTTHUMP00000038575|T200 glycoprotein|T200 leukocyte common antigen|glycoprotein|leukocyte common antigen|leukocyte-common antigen|protein tyrosine phosphatase, receptor type, c polypeptide|receptor-type tyrosine-protein phosphatase C protein-coding 1349193 PTPRCAP protein tyrosine phosphatase, receptor type, C-associated protein The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. 1580863 7961877,11390434,15489334,15372250,12595907,20019842,12477932,11250890,10602003,8954783,8537410,16169070 5790 NM_005608,AP003419,CH471076,X97267,AK312022,BC113859,BC114467,CR457429,CR592526,CR622472,X81422 NP_005599,EAW74622,CAA65922,BAG34959,AAI13860,AAI14468,CAG33710,CAA57182,Q14761 Hs.155975 CD45-AP|LPAP|MGC138602|MGC138603 CD45 associated protein|CD45-associated protein|PTPRC-associated protein|lymphocyte phosphatase-associated phosphoprotein|protein tyrosine phosphatase receptor type C-associated protein|protein tyrosine phosphatase, receptor type, c polypeptide-associated protein protein-coding 1348083 PTPRD protein tyrosine phosphatase, receptor type, D The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chick and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple tissue specific alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq] 1580863 19913121,20628086,20816195,18519826,18414509,18050303,17420988,16114034,14759258,12570871,12477932,12376545,10777529,9624153,9566880,8524829,8355697,7665159,2170109,7896816,19240061,18951430,18660810,20526338,20522523,19478061,19500277,19525478,19921088,20073072,20139422,20174558,20200953,20201926,20379614,8889548,20808825 5789 NM_001040712,NM_130393,NM_130392,NM_002839,AL133479,AL135790,AL137069,AL137125,AL137851,AL157826,AL353638,AL353733,AL354722,AL356054,AL356584,NM_130391,AL390723,AL391864,AL441884,AL445926,AL451130,AL513422,AL583805,AL590307,AL590397,AL591133,AL591622,AL596451,AL669908,CH471071,AB208869,AB211400,AK296392,BC028038,BC037801,BC045786,BC106713,BC106714,BC106715,BC106716,L38929,X54133,BM680342,DR001889,NM_001171025 NP_569075,NP_001035802,NP_569077,NP_569076,NP_002830,CAH70912,CAI16146,CAH73847,CAH70443,CAH73128,EAW58718,EAW58719,EAW58720,EAW58721,EAW58722,EAW58723,EAW58724,BAD92106,BAE79816,BAG59060,AAI06714,AAI06715,AAI06716,AAI06717,AAC41749,CAA38068,P23468,Q2HXI4,Q3KPI9,Q3KPJ0,Q3KPJ1,Q3KPJ2,Q59H90,NP_001164496 Hs.446083 HPTP|HPTP-DELTA|HPTPD|HPTPDELTA|MGC119750|MGC119751|MGC119752|MGC119753|PTPD|R-PTP-DELTA|RPTPDELTA OTTHUMP00000022727|OTTHUMP00000215416|R-PTP-delta|protein tyrosine phosphatase, receptor type, delta polypeptide|protein-tyrosine phosphatase delta|receptor-type tyrosine-protein phosphatase delta protein-coding 1346203 PTPRE protein tyrosine phosphatase, receptor type, E The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Two alternatively spliced transcript variants of this gene have been reported, one of which encodes a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; Another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokines induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq] 1580863 8838320,8786123,8618876,8595895,8586417,7835887,7566098,16385451,20201926,20379614,18029348,19167335,2170109,18682798,18093973,17903293,16344560,15845350,15738637,15588985,15522235,15489334,15390114,14980517,14702039,12861030,12754301,12615930,12477932,12376545,12193229,12121439,10980613,10921884,10859312,10490839,8889548 5791 NM_006504,NM_130435,AL158166,AL390236,CH471066,AA362195,AF406557,AJ315969,AJ430580,AK001335,AK026334,AK056111,AK290414,AK291828,AK299498,AK300613,AL832042,BC031078,BC050062,BC071573,BE246451,BI559814,BI910569,BM970048,BQ006544,BU159075,BU742614,BX648180,D20432,DA470230,DA949010,H17674,U36623,X54134 NP_006495,NP_569119,CAH73171,CAH73172,CAH73173,CAH73174,EAW49180,EAW49181,EAW49182,EAW49183,EAW49184,EAW49185,EAW49186,AAL01375,CAC86583,CAD23182,BAF83103,BAF84517,BAG61455,BAG62307,CAH10411,AAH50062,AAC50324,CAA38069,P23469,Q5VWH4,Q5VWH5,Q5VWH6,Q69YS2,Q8TE48,Q96P81 Hs.127022 DKFZp313F1310|FLJ57799|FLJ58245|HPTPE|PTPE|R-PTP-EPSILON protein tyrosine phosphatase epsilon|protein tyrosine phosphatase, receptor type, epsilon polypeptide|protein-tyrosine phosphatase epsilon|receptor-type tyrosine-protein phosphatase epsilon protein-coding 734202 PTPRF protein tyrosine phosphatase, receptor type, F The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq] 1642727,1642732,1642735,1642723,1642733,2293185,1625124,1580863 8995282,7665159,2972792,18925540,17803936,17419996,17259169,16478662,16335952,15896785,15588985,15491607,15231748,15150650,14702039,12496362,12477932,12376545,12176037,12095414,11931740,11309481,11158333,11121408,10822386,10777529,10660596,10395287,10365916,10320483,10187801,10079136,9647658,9624153,9245795,8917069,8732688,8643598,8621380,8524829,7929208,7796809,7558042,2554325,19910497,1695146,1486801,1321126,11245482,12629171,10338209,20139422,9295285 1642727,1642732,1642735,1642723,1642733,2293185,1625124 5792 NM_002840,NM_130440,AC092815,AL583862,CH471059,AB177856,AB177857,AB209478,AK023775,AK125325,AK127007,AK127475,AK301551,BC012102,BC029466,BC048416,BC048768,BI711143,BX537361,DQ234351,Y00815 NP_002831,NP_569707,CAI14894,CAI14895,CAI14896,CAI14897,EAX07086,EAX07087,EAX07088,EAX07089,BAD66834,BAD66835,BAD92715,BAG54183,BAG54420,BAG54509,BAG63047,AAH48768,CAD97607,ABB29980,CAA68754,P10586,Q308M3,Q59FI2,Q5W9G3,Q7Z3X4 Hs.272062 FLJ43335|FLJ45062|FLJ45567|LAR LCA-homolog|OTTHUMP00000008683|OTTHUMP00000008684|OTTHUMP00000008687|OTTHUMP00000008688|OTTHUMP00000192913|OTTHUMP00000192914|leukocyte antigen-related (LAR) PTP receptor|leukocyte antigen-related tyrosine phosphatase|leukocyte common antigen related|protein tyrosine phosphatase, receptor type, F polypeptide|receptor-linked protein-tyrosine phosphatase LAR|receptor-type tyrosine-protein phosphatase F protein-coding 735532 PTPRG protein tyrosine phosphatase, receptor type, G The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq] 1580863 19167335,8382771,18829573,17963294,16335952,15897551,14676845,12553013,12477932,11859871,10521598,10376795,8833149,7683956,2170109,2169617,1711217,9624153,20959494,20825314,20651337,18646686,19567891,20031603,20125088,20133774,20201926,20379614 5793 NM_002841,AC004695,AC092502,AC096919,AC098482,AC103587,AC103921,AC104849,AC105939,CH471055,U46089,U46116,AB209871,AI872451,AK296327,BC036018,BC047734,BC048961,BC140904,BC144110,CR605063,CR749269,EU273472,L09247,X54132 NP_002832,AAC16478,EAW65397,AAC50439,BAD93108,BAH12317,AAH36018,AAH47734,AAH48961,AAI40905,AAI44111,CAH18125,ABX60133,AAA60224,CAA38067,O60420,P23470,Q49A02,Q86TJ8 Hs.595541 HPTPG|PTPG|R-PTP-GAMMA|RPTPG H_RG317H01.1|OTTHUMP00000213233|protein tyrosine phosphatase gamma|protein tyrosine phosphatase, receptor type, gamma polypeptide|protein-tyrosine phosphatase gamma|receptor type protein tyrosine phosphatase gamma|receptor tyrosine phosphatase gamma|receptor-type protein phosphatase gamma|receptor-type tyrosine-protein phosphatase gamma protein-coding 1345629 PTPRH protein tyrosine phosphatase, receptor type, H The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 12907755,14702039,12879010,12477932,12101188,11435690,11278335,8294459,12837766 5794 NM_002842,AC010327,AF275131,CH471135,AA573849,AK097257,BC034929,BC111715,BC111716,D15049,NM_001161440 NP_002833,AAF91411,EAW72348,AAI11716,AAI11717,BAA03645,Q9HD43,NP_001154912 Hs.657630,Hs.179770 FLJ39938|MGC133058|MGC133059|SAP1 R-PTP-H|receptor-type tyrosine-protein phosphatase H|stomach cancer-associated protein tyrosine phosphatase 1|transmembrane-type protein-tyrosine phosphatase type H protein-coding 736433 PTPRJ protein tyrosine phosphatase, receptor type, J The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1357414,1641809,1580863,2317988 9115287,7994032,20823296,19413345,19494114,19672627,19836242,19922411,20379614,19167335,10821867,7937872,18029348,19332538,19124506,19122201,18936167,18843023,18603590,18348712,16778204,16682945,16582570,16335952,16000320,15384144,15378013,15231692,15123617,14709717,12685844,12477932,12403354,12370829,12089527,12062403,11259588,10914487,10648410,10599888,10473595,9759839,9531590 1357414,1641809,2317988 5795 NM_002843,NM_001098503,NG_012209,AC026975,AC103828,AF387844,CH471064,AI218139,AL359057,BC019824,BC063417,BC098447,D37781,DR007037,U10886 NP_002834,NP_001091973,AAM69432,EAW67873,EAW67874,EAW67875,EAW67876,CAB94390,AAH63417,BAA07035,AAB36687,Q12913,Q6P4H4,Q9NPR5,AAI60125 Hs.318547 CD148|DEP1|HPTPeta|R-PTP-ETA|SCC1 CD148 antigen|DEP-1|HPTP eta|R-PTP-J|density-enhanced phosphatase 1|human density enhanced phosphatase-1|protein tyrosine phosphatase, receptor type, J polypeptide|protein-tyrosine phosphatase eta|protein-tyrosine phosphatase receptor type J|receptor-type tyrosine-protein phosphatase eta|susceptibility to colon cancer 1, mouse, homolog of protein-coding 1354114 PTPRK protein tyrosine phosphatase, receptor type, K The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq] 1580863 9047348,18276111,17720884,16849327,16672235,16344560,16263724,15383276,14718574,12794170,12477932,11710941,9722959,8941358,8663237,8264577,7782276,16169070,15899872,19167335,19236842,19800317,19864455,19911372,20068591,20190752,20379614 5796 AB209670,AF533875,AK295028,BC063596,BC140775,BC144512,BC144513,BI755683,BQ018138,BX647498,CR749277,DA790525,L77886,Z70660,NM_002844,NM_001135648,AL034349,AL035465,AL035470,AL035594,AL357621,AL451073,AL590006,CH471051 EAW48089,BAD92907,AAO49502,BAG58084,AAH63596,AAI40776,AAI44513,AAI44514,CAH18132,AAC37599,CAA94519,Q15262,Q59EZ1,Q5JRN8,Q5JT32,Q5JT33,Q5TG12,Q68DT8,Q6P493,Q86WJ2,NP_002835,NP_001129120,CAI23053,CAI23054,CAI23055,CAI23056,CAI42408,CAI42409,CAI42410,CAI42411,CAI42412,CAI21516,CAI21517,CAI43008,CAI43010,CAI43011,CAI43012,CAI43013,CAI41220,CAI41221,CAI41222,CAI41223,CAI41224,CAI40499,CAI40500,CAI40501,CAI39437,CAI39438,CAI39439,CAI39440,EAW48084,EAW48085,EAW48086,EAW48087,CAI21515,EAW48088 Hs.155919 DKFZp686C2268|DKFZp779N1045|R-PTP-kappa OTTHUMP00000017181|dJ480J14.2.1 (protein tyrosine phosphatase, receptor type, K (R-PTP-KAPPA, protein tyrosine phosphatase kappa , protein tyrosine phosphatase kappa|protein-tyrosine phosphatase kappa|protein-tyrosine phosphatase, receptor type, kappa|receptor-type tyrosine-protein phosphatase kappa protein-coding 1347501 PTPRM protein tyrosine phosphatase, receptor type, M The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq] 1580863 19913121,20628086,20659327,9531566,11278757,16380380,10809770,8393854,18566238,17276081,14623235,15080886,17965016,1655529,15706045,15491993,18773424,17761881,16335952,15588985,12895029,12477932,12376545,10777529,10753936,10094839,9624153,9346878,8620001,8404049,8394372,7961788,7782276,7642713,11801604,19167335,19304959,19690139,20201926,20379614 5797 NM_001105244,NM_002845,AC006566,AP000897,AP001091,AP001094,AP005118,AP005227,AP005900,CH471113,AA281524,AK294492,AK303652,BC040543,BC051651,BC151842,BF725297,BQ926672,DC381904,X58288 NP_001098714,NP_002836,EAX01620,EAX01621,EAX01622,EAX01623,EAX01624,BAG57714,BAG64655,AAH40543,AAH51651,AAI51843,CAA41226,P28827,Q49AC9,Q86V60 Hs.49774 MGC166994|PTPRL1|R-PTP-MU|RPTPM|RPTPU|hR-PTPu protein tyrosine phosphatase mu|protein tyrosine phosphatase, receptor type, mu polypeptide|protein-tyrosine phosphatase mu|receptor-type tyrosine-protein phosphatase mu protein-coding 734153 PTPRN protein tyrosine phosphatase, receptor type, N The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. [provided by RefSeq] 1580863,2313289,2313594 12477932,12021127,12021115,11908951,11483505,11334676,11289059,11086001,11079748,9828138,8798755,8646884,8641276,8144912,18048354,19447008,20035758,20083660,20193755,11043403,16273344,8024693,18535195,18504544,18373080,16713569,15939893,15620435,15596545,14702039,14624760 2313289,2313594 5798 DC344431,DC352946,NM_001199763,NM_001199764,NM_002846,AC114803,AF042285,CH471063,AB209368,AK054765,AK122679,AK291469,AK294490,AK296335,AK314574,BC007713,BC070053,BT006975,L18983,X62899 NP_001186692,NP_001186693,NP_002837,AAY24038,EAW70724,EAW70725,EAW70726,BAD92605,BAG53662,BAF84158,BAG57712,BAG59024,AAH07713,AAH70053,AAP35621,AAA90974,CAA44688,Q16849,Q59FU1,Q6NSL1,Q7KZS4,Q96IA0 Hs.89655 FLJ16131|IA-2|IA-2/PTP|IA2|ICA512|R-PTP-N ICA 512|PTP IA-2|islet cell antigen 2|islet cell antigen 512|islet cell autoantigen 3|protein tyrosine phosphatase-like N|receptor-type tyrosine-protein phosphatase-like N protein-coding 1349626 PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. The catalytic domain of this PTP is most closely related to PTPRN/IA-2beta. This PTP and PTPRN are both found to be major autoantigens associated with insulin-dependent diabetes mellitus. Three alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq] 2311682,2311683,2311684,1580863 19913121,20628086,17474147,8798755,18029348,19361477,18398821,16713569,15489334,15220191,12477932,12421765,11086001,9858807,9754810,9220540,9205841,8954911,8889548,8878534,8024693,21057379,19724895,19851296,20198315,20201926,20379614 2311682,2311683,2311684 5799 NM_130842,NM_130843,NM_002847,AC005481,AC006003,AC006372,AC011899,AC019043,AC078942,AC093662,AC093856,AC125243,CH236954,CH471149,AB002385,AF007555,AL157451,BC034040,BC071570,CB850986,CR590102,CR596761,CR604034,DB498958,U65065,U66702,U81561 NP_570857,NP_570858,NP_002838,EAX04577,EAX04578,BAA20841,AAB63600,CAB75665,AAH34040,AAH71570,AAC51643,AAC50742,AAB68603,Q92932,Q9NSR5,Q9Y4I6,Q9Y4I9,ABM83325,ABW03315 Hs.490789 IA-2beta|IAR|ICAAR|PTPRP IAR/receptor-like protein-tyrosine phosphatase|OTTHUMP00000202113|R-PTP-N2|islet cell autoantigen-related protein|phogrin|protein tyrosine phosphatase receptor pi|receptor-type tyrosine-protein phosphatase N2|tyrosine phosphatase IA-2 beta protein-coding 731757 PTPRO protein tyrosine phosphatase, receptor type, O This gene encodes a receptor-type protein tyrosine phosphatase containing a single intracellular catalytic domain with a characteristic signature motif. The gene product, which has a transmembrane domain, is an integral membrane protein. Several alternatively spliced transcript variants, some of which encode different isoforms of the protein, have been described. These variants exhibit tissue-specific expression. [provided by RefSeq] 1580863 19167335,7665166,7753550,19095770,18997174,17593862,18644370,17545520,16888096,15356345,12477932,11368509,10498613,10397721,9434160,7519601,9263011,19913121,20628086,16169070,19573017,19834535,19855081,20379614 5800 NM_002848,NM_030671,NM_030669,NM_030670,NM_030668,AC007542,AC022334,AC092183,CH471094,AB209729,AF152378,AF187042,AF187043,AF187044,AK289784,NM_030667,AK290982,AK299529,BC035960,BC126201,BC126203,U20489,Z48541 NP_109592,NP_002839,NP_109596,NP_109594,NP_109595,NP_109593,EAW96348,EAW96349,EAW96350,EAW96351,EAW96352,EAW96353,BAD92966,AAD55680,AAF04085,AAF04086,AAF04087,BAF82473,BAF83671,BAG61478,AAH35960,AAI26202,AAI26204,AAA82892,CAA88425,Q16827,Q59ET2,Q8IYG3,Q9UBF0,Q9UBT5 Hs.160871 GLEPP1|PTP-U2|PTP-oc|PTPU2 PTPROt|PTPase U2|R-PTP-O|glomerular epithelial protein 1|glomerular epithelial protein-1|osteoclastic transmembrane protein-tyrosine phosphatase|phosphotyrosine phosphatase U2|protein tyrosine phosphatase PTP-U2|protein tyrosine phosphatase U2|receptor-type protein tyrosine phosphatase O|receptor-type tyrosine-protein phosphatase O protein-coding 1345897 PTPRQ protein tyrosine phosphatase, receptor type, Q PTPRQ belongs to the type III receptor-like protein-tyrosine phosphatase (PTPase) family. PTPRQ has low activity against phosphotyrosine, but is active against phosphatidylinositol phosphates that are involved in regulation of survival, proliferation, and subcellular architecture (Seifert et al., 2003 [PubMed 12837292]).[supplied by OMIM] 1580863 19351528,16344560,16341674,12837292,12802008,9727007,20472657,20346435,20379614,19888295 374462 DW009906,DY655367,EG327664,AC074031,AC083812,AF169351,BM750287,DA545412,DB305536,DB318211,DB341961,DN831929,DV080144,DV080238,DV080465,DV080607,DV080649,DV080650,DV080661,DW009832,DW009898,NM_001145026 Q9UMZ3,NP_001138498,AAD50277 Hs.539284 DFNB84|PTPGMC1 PTP-RQ|R-PTP-Q|phosphotidylinositol phosphatase PTPRQ|protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells|receptor-type tyrosine-protein phosphatase Q protein-coding 1348456 PTPRR protein tyrosine phosphatase, receptor type, R The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domains, and thus represents a receptor-type PTP. The similar gene predominately expressed in mouse brain was found to associate with, and thus regulate the activity and cellular localization of MAP kinases. The rat counterpart of this gene was reported to be regulated by the nerve growth factor, which suggested the function of this gene in neuronal growth and differentiation. [provided by RefSeq] 729789,1580863 19167335,7836467,10601328,12493773,16541075,16441242,16148006,14702039,12477932,12042304,11493009,11147789,10705342,10419510,10393441,10066421,9857190,7814416,7557444,18029348,20015382,20201926,20346435,20379614 729789 5801 BX571751,CR625935,CR749836,D64053,U42361,U77916,U77917,X82635,Z79693,NM_002849,NM_130846,AC083809,AC084877,AC090676,AC140066,AF263016,CH471054,AK091647,AK295951,AK304457,AK304672,AK312376,BC072386,BC092469,BC110900,BC119777,BC122866 CAE11876,CAH18692,BAA10930,AAD09447,AAB54006,AAB54007,CAA57957,CAB01957,Q05B41,Q0VD90,Q15256,Q2TAJ3,Q569H9,Q68CP6,Q7Z2V8,AAI22867,NP_002840,NP_570897,AAG47642,EAW97255,EAW97256,BAH12227,BAH14192,BAH14234,BAG35294,AAH92469,AAI10901,AAI19778 Hs.506076 DKFZp781C1038|EC-PTP|FLJ34328|MGC131968|MGC148170|PCPTP1|PTP-SL|PTPBR7|PTPRQ Ch-1 PTPase|NC-PTPCOM1|R-PTP-R|ch-1PTPase|protein tyrosine phosphatase Cr1PTPase|protein-tyrosine phosphatase NC-PTPCOM1|protein-tyrosine phosphatase PCPTP1|receptor-type tyrosine-protein phosphatase R protein-coding 734357 PTPRS protein tyrosine phosphatase, receptor type, S The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq] 1580863 16273344,17353931,8524829,19000305,17893260,17614280,16552719,16335952,15146197,15057824,12477932,12376545,10435588,10080192,10080191,9790732,9624153,9566880,9357975,8992885,8954782,1370651,16169070,10777529,20139422,20179269 5802 CN413752,S78080,S78086,U35234,U40317,U41725,NM_130854,NM_130855,NM_002850,AC005335,AC005338,AC005788,AC005790,AC118535,CH471139,AB209333,BC029496,BC104812,BC143286,BC143287,BC148297,BI461316,CN413749,NM_130853 AAB21146,AAB21147,AAC50299,AAC50567,AAD09360,Q13332,Q16343,Q59FX6,Q8NHS7,Q9UM81,NP_570923,NP_570924,NP_570925,NP_002841,AAC27825,AAC62834,AAC62832,EAW69170,EAW69171,EAW69172,EAW69173,EAW69174,EAW69175,EAW69176,EAW69177,EAW69178,EAW69179,BAD92570,AAH29496,AAI04813,AAI43288,AAI48298 Hs.644384 PTPSIGMA R-PTP-S|R-PTP-sigma|protein tyrosine phosphatase PTPsigma|protein tyrosine phosphatase, receptor type, d|protein tyrosine phosphatase, receptor type, sigma|receptor-type tyrosine-protein phosphatase S|receptor-type tyrosine-protein phosphatase sigma protein-coding 1320107 PTPRT protein tyrosine phosphatase, receptor type, T The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq] 1580863 16973135,17360477,18644975,9602027,19351817,18668548,18519826,17223850,16344560,16273344,15155950,11814386,11780052,11423001,9486824,9179496,8889549,19816407,20133777,20201926,20379614 11122 NM_133170,AL021395,AL022239,AL024473,NM_007050,AL031656,AL031676,AL035459,AL035666,AL049812,AL109826,AL117374,AL121763,AL136461,AL359695,CH471077,Z93942,AB006621,AF043644,AL707728,BC153300,DA791336,R50970 NP_008981,NP_573400,CAI19981,CAI19982,CAI19983,CAI19984,CAI19985,CAI19986,CAI19987,CAI20437,CAI20438,CAI20439,CAI20440,CAI20441,CAI20442,CAI20443,CAI22489,CAI22490,CAI22491,CAI22492,CAI22493,CAI22495,CAI19876,CAI19877,CAI19878,CAI19879,CAI19880,CAI19881,CAI19882,CAI22909,CAI22910,CAI22911,CAI22912,CAI22913,CAI22914,CAI22915,CAI19250,CAI19251,CAI19252,CAI19253,CAI19254,CAI19255,CAI19256,CAI23310,CAI23311,CAI22494,CAI23312,CAI23313,CAI23314,CAI23315,CAI23316,CAH72553,CAH72554,CAH72555,CAH72556,CAH72557,CAH72558,CAH72559,EAW75970,EAW75971,EAW75972,CAI19865,CAI19866,CAI19867,CAI19868,CAI19869,CAI19870,CAI19871,BAA22952,AAD09421,AAI53301,O14522,AAI66683 Hs.526879 KIAA0283|RPTPrho OTTHUMP00000031657|OTTHUMP00000031659|OTTHUMP00000031660|OTTHUMP00000031661|OTTHUMP00000031662|OTTHUMP00000031663|R-PTP-T|RPTP-rho|receptor protein tyrosine phosphatase|receptor-type tyrosine-protein phosphatase T|receptor-type tyrosine-protein phosphatase rho protein-coding 1353626 PTPRU protein tyrosine phosphatase, receptor type, U The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Three alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq] 1580863,1642652,1642654,1642656 20889312,17622474,18951430,20379614,16574648,8700514,12501215,16564554,16298104,15146197,14702039,12949066,12477932,10397721,10395944,10196137,9624153,9434160,9305862,9070223,8889548,8870675 1642652,1642654,1642656 10076 X95712,X97198,NM_133177,NM_133178,AL049570,AL590729,AL645859,CH471059,U60289,AB208855,AK094849,BC033131,BC146655,BM799833,BU687539,CN410555,CR621849,CR624372,U71075,U73727,NM_005704,NM_001195001 CAI20946,CAI20947,AAB51343,CAA65016,CAA65832,Q92729,NP_005695,NP_573438,NP_573439,CAI14331,CAI14332,CAH72393,CAH72394,EAX07650,EAX07651,EAX07652,AAB07074,BAD92092,BAG52941,AAI46656,AAC51938,NP_001181930 Hs.19718 FLJ37530|FMI|GLEPP1|PCP-2|PTP|PTP-J|PTP-PI|PTPPSI|PTPRO|PTPU2|R-PTP-PSI|hPTP-J PTP pi|PTP-RO|R-PTP-U|Receptor protein tyrosine phosphatase hPTP-J|pancreatic carcinoma phosphatase 2|pi R-PTP-Psi|protein tyrosine phosphatase J|protein tyrosine phosphatase receptor omicron|protein-tyrosine phosphatase J|protein-tyrosine phosphatase pi|protein-tyrosine phosphatase receptor omicron|receptor-type protein-tyrosine phosphatase psi|receptor-type tyrosine-protein phosphatase U protein-coding 1602650 PTPRV protein tyrosine phosphatase, receptor type, V (pseudogene) 17693256,17360168,15358244,20210993 148713 NR_002930,AL356953,AL592300,AJ629456,AY819761,AY819762,AY819763 Hs.523870 ESP|OST-PTP|PTPRV|PTPRVP pseudo 731607 PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 This gene is a member of the receptor type protein tyrosine phosphatase family and encodes a single-pass type I membrane protein with two cytoplasmic tyrosine-protein phosphatase domains, an alpha-carbonic anhydrase domain and a fibronectin type-III domain. Expression of this gene is induced in gastric cancer cells, in the remyelinating oligodendrocytes of multiple sclerosis lesions, and in human embryonic kidney cells under hypoxic conditions. Both the protein and transcript are overexpressed in glioblastoma cells, promoting their haptotactic migration. Alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 20738847,19167335,9653645,1323835,8387522,19141530,19058221,18838383,18713734,18186075,18003890,17823238,17727841,17706593,17681947,17579610,17368428,17098867,17030583,16344560,16338072,16335952,15998549,15908427,15833863,15797857,15523497,14555979,12690205,12355066,11520897,11381105,10706604,10521598,10212223,9847074,9441757,7736789,2170109,2169617,9507007,11707406,12700241,20224786,12477932,15925565,16105548,16513268,16814777,19604403,20133774,20201926 5803 NG_023266,NM_002851,AC006020,AC006353,AC073095,CH236947,CH471070,AK294062,BC131736,CX868991,CX872418,DA101746,DA454064,M93426,U88967,X54135 NP_002842,AAF03527,EAL24344,EAW83560,EAW83561,EAW83562,EAW83563,BAG57408,AAA60225,AAC39934,CAA38070,P23471,AAI72407 Hs.489824 HPTPZ|HPTPzeta|PTP-ZETA|PTP18|PTPRZ|PTPZ|RPTPB|RPTPbeta|phosphacan OTTHUMP00000211398|R-PTP-zeta|R-PTP-zeta-2|protein tyrosine phosphatase, receptor-type, zeta polypeptide 1|protein-tyrosine phosphatase receptor type Z polypeptide 1|protein-tyrosine phosphatase receptor type Z polypeptide 2|receptor-type tyrosine phosphatase beta/zeta|receptor-type tyrosine-protein phosphatase zeta protein-coding 1348911 PTPRZ2 protein tyrosine phosphatase, receptor-type, Z polypeptide 2 1580863 9653645,1323835 5804 O76043 1317017 PTRF polymerase I and transcript release factor 19726876,20300641,20427576,20684003,9582279,17026959,15242332,19068216,17081983,15951569,15592455,15489334,14702039,12477932,10727401 284119 AK074512,NG_015845,NM_012232,AC107993,CH471152,AF000421,AF312393,AK000715,AK092406,AK298072,AK298563,AK314389,AL050224,BC004295,BC008849,BC066123,BC073759,CR592929,CR603669,CR624680 NP_036364,EAW60828,AAC63404,AAG27093,BAG52547,BAG60361,BAG60757,BAG37014,AAH04295,AAH08849,AAH66123,AAH73759,Q6NZI2 Hs.437191 CAVIN|CGL4|FKSG13|FLJ90031|cavin-1 RNA polymerase I and transcript release factor|TTF-I interacting peptide 12|polymerase I and transcript release factor protein-coding 1320908 PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) 20877624,15489334,14702039,14660562,12477932,18482256 138428 NM_001002913,AL162426,CH471090,AK090922,BC015230,BC047012,CR611847,HB905510,HC962919 NP_001002913,EAW87685,EAW87686,AAH47012,Q86Y79,CBF84778,CBV01429,ADR82643 Hs.653265 C9orf115|MGC51999|PTH1 OTTHUMP00000213243|OTTHUMP00000213244|PTH|chromosome 9 open reading frame 115|probable peptidyl-tRNA hydrolase protein-coding 1602115 PTRH2 peptidyl-tRNA hydrolase 2 18703509,17511679,15489334,15006356,14702039,14660562,12477932,10810093,18029348,19578750,20877624 51651 NM_016077,AC091271,CH471109,AF151905,AK057033,AK098219,AL137322,BC006807,BC017457,BX647177 ACE87649,ACE86959,Q9Y3E5,NP_057161,EAW94394,AAD34142,BAB71351,BAG53596,CAB70696,AAH06807,Q96ME4 Hs.12677 BIT1|CGI-147|FLJ32471|PTH2 OTTHUMP00000205936|PTH 2|bcl-2 inhibitor of transcription 1|peptidyl-tRNA hydrolase 2, mitochondrial protein-coding 68525 PTS 6-pyruvoyltetrahydropterin synthase The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq] 1300048,1580863,1601576 3308682,11256614,19360691,19350512,17590551,17407085,17270157,16381901,16189514,16169070,16135092,16086286,15489336,15489334,15197144,14729142,14551150,12477932,11937441,11916314,11744995,11591653,11438997,11076863,10727395,10531334,10220141,9450907,9222757,9222755,9159737,8841415,8707300,8216273,8188266,8178819,7493990,1883524,1282802,10608806,7698774,18505119,19491146,19674121,20877624 1601576 5805 NM_000317,NG_008743,AB042297,AP002884,CH471065,D25234,EF445018,L76259,U63382,U63383,AK307133,AK310768,BC009686,BC018029,CF529329,D17400,M97655 NP_000308,BAA95486,EAW67195,BAA04959,ACA06065,AAB64229,AAC16970,AAH09686,AAH18029,BAA04224,AAA51541,Q03393,CAL37554,CAL38178,CAL38544,ABM81887,ABM85059 Hs.503860 FLJ97081|PTPS 6-pyruvoyl tetrahydrobiopterin synthase|6-pyruvoyl-tetrahydropterin synthase|PTP synthase protein-coding 68511 PTTG1 pituitary tumor-transforming 1 The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. [provided by RefSeq] 68295,1580863 15916961,16479161,20452981,20506293,20621061,17962814,17854787,17652795,17507465,17383977,17353909,17297475,17210994,17071631,16964243,16926250,16820881,16809406,16799481,16705313,16705156,16685397,16394085,16292982,16205121,15922332,15897900,15880121,15846392,15769981,15649325,15591026,15514942,15302935,15281346,15178645,15024062,14966902,14709851,14671639,12960092,12958169,12727994,12590639,12554778,12477932,12444553,12403781,12355087,12324572,12213878,11553328,11371342,11238996,11179223,11158059,10781616,10656688,10580151,10411507,10393434,10365261,10022450,9925941,9892021,18460583,15989971,12194817,9811450,9915854,12070128,19407503,19351864,19302955,19117984,19053469,19008095,18984771,18753362,18663361,18620995,18594525,18550719,18522889,18451147,18426563,18384692,18339849,18245958,18217976,18047793,20628624,20677014,20953187,20962850,21068098,19000457,18029348,19477929,19539243,19690544,19837943,19958546,20106827,20116377,20198633,20406982 68295 9232 NM_004219,AC091842,AF167560,AF167564,CH471062,AF062649,AF075242,AF095287,AJ223953,AK312209,BC026003,BC101834,BC108894,BC108895,BC112071,BC113842,BC113896,BC128193,BC128194,CR457135,CR541685,CR596022,GN344095 NP_004210,AAF06995,EAW61551,EAW61552,EAW61553,AAC69752,AAD19335,AAC64409,CAA11683,BAG35142,AAI01835,AAI08895,AAI08896,AAI12072,AAI13843,AAI13897,AAI28194,AAI28195,CAG33416,CAG46486,O95211,O95997,Q2VPE7,Q6IAL9,CAY55983 Hs.350966 EAP1|HPTTG|MGC126883|MGC138276|PTTG|TUTR1 ESP1-associated protein 1|OTTHUMP00000160845|pituitary tumor-transforming gene 1 protein|securin|tumor-transforming protein 1 1643361,2289409 BW307_H,BW320_H protein-coding 1314337 PTTG1IP pituitary tumor-transforming 1 interacting protein The encoded protein, which directly binds to pituitary tumor-transforming gene 1 protein (PTTG1), facilitates the nuclear translocation of PTTG1 and potentiates the transcriptional activation of basic fibroblast growth factor by PTTG1. The gene product localizes to both the cytoplasm and nucleus. Its NLS is required for its own nuclear localization, the nuclear localization of PTTG1, and its interaction with PTTG1. [provided by RefSeq] 1580863 10781616,17297475,15489334,15190888,15178645,14702039,12958169,12477932,10830953,9570958,16712791 754 NM_004339,AL163300,AL773603,CH471079,AF149785,AK094882,AK095586,AK290139,AK298557,AK299204,AK315626,BC000415,BC012858,BC019295,BC020983,BC031097,BC034250,CR592911,L48984,Z50022,BG721942,CB109980,DC396020 NP_004330,CAB90552,EAX09386,EAX09387,EAX09388,AAF73770,BAF82828,BAG60752,BAG61244,BAG37994,AAH00415,AAH12858,AAH19295,AAH20983,AAH31097,AAH34250,CAA90325,P53801,ABM82698,ABM85882 Hs.474010 C21orf1|C21orf3|PBF PTTG-binding factor|pituitary tumor-transforming gene 1 protein-interacting protein|pituitary tumor-transforming gene protein-binding factor protein-coding 1315534 PTTG2 pituitary tumor-transforming 2 1580863 12477932,10806349,10084610,18029348 10744 NM_006607,AC021106,AF116538,AF200719,AF095288,BC069114,BC069400 NP_006598,AAD41262,AAF72579,AAC64410,AAH69114,AAH69400,Q9NZH5 Hs.668806 OTTHUMP00000218176|pituitary tumor-transforming gene 2 protein|securin-2 protein-coding 1351902 PTTG3P pituitary tumor-transforming 3 (pseudogene) 1580863 16201836,10806349,18029348 26255 NR_002734,AC011031,AF200720,AY028471,DQ120700,AF095289 AAF72580,AAK40241,ABC40663,AAC64411,Q9NZH4 Hs.647156 PTTG3|rcPTTG1 pseudo 1353096 PTTG4P pituitary tumor-transforming 4 pseudogene 9847074 326315 NG_002565,AC005230 pseudo 1343528 PTX3 pentraxin-related gene, rapidly induced by IL-1 beta 1580863 18703503,12006390,7679696,1429570,19396030,19389798,19327124,19273457,19211665,19164811,19131771,19079137,19050261,19014569,18685085,18676013,18650775,18571180,18417746,18292565,18048494,18045580,17947708,17786277,17675295,17611589,17496115,17487767,17441979,17424885,17380301,17277044,17095712,16981714,16865225,16769728,16647920,16617159,16380821,16344560,16339571,16166594,16020751,15489334,15308113,15262177,14603263,14515272,12763682,12645945,12611905,12538709,12477932,12006411,12004288,11762945,10931803,9521058,9407058,9119472,8131794,7949102,20134101,20378410,7523502,1730767,15894273,20515753,19913121,20628086,19565609,19632990,19718477,19772962,19792835,19794969,19811281,19846603,19900712,19917159,20022320,20363749,20391484,20399512,20430947,20927127 5806 NM_002852,AC020630,CH471052,DQ207368,AK312705,BC027887,BC039733,BQ010272,CR593354,CR605317,CR606073,CR612979,CR612981,DA716533,M31166,X63053,X63613 NP_002843,EAW78708,ABA64467,BAG35583,AAH39733,AAA61234,CAA44778,CAA45158,P26022 Hs.591286 TNFAIP5|TSG-14 TNF alpha-induced protein 5|pentaxin-related gene, rapidly induced by IL-1 beta, tumor necrosis factor, alpha-induced protein 5|pentaxin-related gene, rapidly induced by il-1 beta|pentaxin-related protein PTX3|pentraxin-3|pentraxin-related gene, rapidly induced by IL-1 beta|pentraxin-related protein PTX3|tumor necrosis factor alpha-induced protein 5|tumor necrosis factor, alpha-induced protein 5|tumor necrosis factor-inducible gene 14 protein|tumor necrosis factor-inducible protein TSG-14 protein-coding 731253 PUF60 poly-U binding splicing factor 60KDa The protein encoded by this gene is a Ro RNP-binding protein. It interacts with Ro RNPs and their interaction is thought to represent a gain of function for Ro RNPs. This protein also forms a ternary complex with far upstream element (FUSE) and FUSE-binding protein. It can repress a c-myc reporter via the FUSE. It is also known to target transcription factor IIH and inhibit activated transcription. This gene is implicated in the xeroderma pigmentosum disorder. There are two alternatively spliced transcript variants of this gene encoding different isoforms. There seems to be evidence of multiple polyadenylation sites for this gene. [provided by RefSeq] 16169070,16713569,17353931,18255255,11445587,18974054,17579712,16628215,16189514,15324660,14702039,12477932,11239393,10882074,10866799,10668799,10606266,12234937,20420426,17643375 22827 NM_078480,NM_001136033,AC105049,AC105219,CH471162,AF114818,AF190744,AF217197,AK055941,AK292373,BC008875,BC009734,NM_014281,BC011265,BC011979,BC035435,CR457143,U51586,AC234917 NP_055096,NP_510965,NP_001129505,EAW82184,EAW82185,EAW82186,EAW82187,EAW82188,EAW82189,EAW82190,EAW82191,EAW82192,EAW82193,EAW82194,EAW82195,AAF23589,AAF05605,AAF27522,BAF85062,AAH08875,AAH09734,AAH11265,AAH11979,CAG33424,AAB41656,Q9UHX1 Hs.521924 FIR|FLJ31379|RoBPI|SIAHBP1 60 kDa poly(U)-binding-splicing factor|FBP interacting repressor|FBP-interacting repressor|Ro ribonucleoprotein binding protein 1|Ro ribonucleoprotein-binding protein 1|fuse-binding protein-interacting repressor|poly(U)-binding-splicing factor PUF60|poly-U binding splicing factor PUF60|pyrimidine tract binding splicing factor|ro-binding protein 1|roBP1|siah binding protein 1|siah binding protein 1; fbp interacting repressor; pyrimidine tract binding splicing factor; ro ribonucleoprotein-binding protein 1|siah-BP1|siah-binding protein 1 protein-coding 1316232 PUM1 pumilio homolog 1 (Drosophila) This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 19319195,18411299,18328718,18211679,17081983,16713569,16710414,16429158,15489334,15231748,15146197,14702039,14584586,12771951,12477932,12459267,12202039,11336708,9373149,11031247,11252894,17116749,20379614,8125298,7788527,20818387 9698 NM_001020658,NM_014676,AL356320,AL445235,CH471059,AF315592,AK056662,AK096476,AK222605,AK291779,AK294477,AK300457,AL699026,BC013398,BX647437,CN402209,CR592163,D43951 NP_001018494,NP_055491,CAH71202,CAH71203,CAH71205,EAX07630,EAX07631,EAX07632,EAX07633,EAX07634,AAG31807,BAG53299,BAD96325,BAF84468,BAG57703,BAG62177,AAH13398,BAA07895,Q14671,Q53HH5,CAH71204 Hs.281707 HSPUM|KIAA0099|PUMH|PUMH1|PUML1 OTTHUMP00000003894|pumilio homolog 1|pumilio-1 protein-coding 1322257 PUM2 pumilio homolog 2 (Drosophila) 12511597,19168546,17154300,17081983,16967088,15815621,15617101,15607425,15489334,15302935,14702039,12771951,12690449,12477932,12459267,12421765,12168954,9039502 23369 NM_015317,AC007041,CH471053,AF272350,AF315591,AK093847,AK304198,BC024218,BC112046,BC112048,BC143550,BC143552,D87078 NP_056132,AAY15026,EAX00821,EAX00822,EAX00823,EAX00824,AAL36981,AAG31806,BAG52772,BAG65078,AAH24218,AAI12047,AAI12049,AAI43551,BAA19665,Q8TB72 Hs.467824 FLJ36528|KIAA0235|MGC138251|MGC138253|PUMH2|PUML2 OTTHUMP00000200539|OTTHUMP00000200540|pumilio homolog 2|pumilio-2 protein-coding 1318376 PURA purine-rich element binding protein A This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq] 1580863 9334258,15777841,1545807,9716182,19267365,19165527,18780968,18413735,18386260,18258596,17722108,17641060,17081983,15707957,15517862,12972605,12933792,12565890,12491158,12477932,12411317,12147688,12034829,11937543,11751932,11730934,11596104,11417483,11413364,11181995,11169743,11032728,10954586,10679817,10597240,10500218,10457364,10412036,10318844,9383706,8943069,8759014,7862639,7606931,7592647,1448097,16741963,17353931,10082537,9830007,17643375,18927497 5813 NM_005859,AC011379,CH471062,BC036087,BC110574,BC110594,BT019388,M96684,X91648,CK819077,CR611332 NP_005850,EAW62076,AAH36087,AAI10575,AAI10595,AAV38195,AAA60229,Q00577,Q2NLC9,Q2NLD4,Q56A79,Q5U0P9 Hs.443121,Hs.592631 PUR-ALPHA|PUR1|PURALPHA purine-rich single-stranded DNA-binding protein alpha|transcriptional activator protein Pur-alpha protein-coding 1353565 PURB purine-rich element binding protein B This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq] 1580863 11417483,17081983,15489334,15302935,14702039,12933792,12853948,12690205,12477932,10318844,9847074,1448097,19496623,20201926 5814 BU154650,BU177276,CB046374,CR611276,R89560,NM_033224,AC004854,CH236960,CH471128,AA016115,AI050971,AI209043,AI912557,AK054977,AK056651,AK057669,AL119133,AL705373,AY039216,BC101735,BC101737,BF964815,BG776957,BM015566,BQ890213 Q96QR8,NP_150093,AAS00366,EAL23749,EAW61073,AAK72462,AAI01736,AAI01738 Hs.596321,Hs.349150 MGC126784|MGC126786|PURBETA purine-rich element-binding protein B|transcriptional activator protein Pur-beta protein-coding 1312911 PURG purine-rich element binding protein G The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 15489334,12477932,12034829 29942 NM_001015508,NM_013357,AC008066,AC084736,CH471080,AF195513,AY077841,BC106708 NP_001015508,NP_037489,EAW63428,EAW63429,AAF03900,AAL77218,AAI06709,Q9UJV8 Hs.373778 MGC119274|PURG-A|PURG-B OTTHUMP00000212017|Pur-gamma|purine-rich element-binding protein gamma protein-coding 1323553 PUS1 pseudouridylate synthase 1 PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs (Chen and Patton, 1999 [PubMed 10094309]).[supplied by OMIM] 1580863 10094309,18648068,17081983,17056637,16964243,15772074,15498874,15489334,15108122,12477932,16712791,19731322,20843780 80324 NM_001002019,NM_001002020,AC131009,CH471054,CQ783543,AF116238,AF318369,AK074659,AK292242,BC002901,BC009505,BC019320,NM_025215,BC035964,BG336824,BM923133,BX340929,CB118952,AI566545,AI884644,NG_013039,HQ205066,HQ205067,HQ205068,HQ205069,HQ205070,HQ205071,HQ205072,HQ205073,HQ205074,HQ205075,HQ205076,HQ205077,HQ205078,HQ205079,HQ205080,HQ205081,HQ205082,HQ205083,HQ205084,HQ205085,HQ205086,HQ205087,HQ205088,HQ205089,HQ205090,HQ205091,HQ205092,HQ205093,HQ205094,HQ205095,HQ205096,HQ205097,HQ205098,HQ205099,HQ205100,HQ205101,HQ205102,HQ205103,HQ205104,HQ205105 NP_079491,NP_001002019,NP_001002020,EAW98530,EAW98531,EAW98532,EAW98533,CAF86716,AAD21042,AAL55876,BAG51983,BAF84931,AAH02901,AAH09505,AAH19320,Q9Y606,ABM83888,ABM87208,ADP90494,ADP90495,ADP90496,ADP90497,ADP90498,ADP90499,ADP90500,ADP90501,ADP90502,ADP90503,ADP90504,ADP90505,ADP90506,ADP90507,ADP90508,ADP90509,ADP90510,ADP90511,ADP90512,ADP90513,ADP90514,ADP90515,ADP90516,ADP90517,ADP90518,ADP90519,ADP90520,ADP90521,ADP90522,ADP90523,ADP90524,ADP90525,ADP90526,ADP90527,ADP90528,ADP90529,ADP90530,ADP90531,ADP90532,ADP90533,ADP90534,ADP90535,ADP90536,ADP90537,ADP90538,ADP90539,ADP90540,ADP90541,ADP90542,ADP90543,ADP90544,ADP90545,ADP90546,ADP90547,ADP90548,ADP90549,ADP90550,ADP90551,ADP90552,ADP90553,ADP90554,ADP90555,ADP90556,ADP90557,ADP90558,ADP90559,ADP90560,ADP90561,ADP90562,ADP90563,ADP90564,ADP90565,ADP90566,ADP90567,ADP90568,ADP90569,ADP90570,ADP90571,ADP90572,ADP90573 Hs.592004 MGC11268|MLASA|MLASA1 mitochondrial tRNA pseudouridine synthase A|tRNA pseudouridine synthase A|tRNA pseudouridine synthase A, mitochondrial|tRNA pseudouridylate synthase I|tRNA uridine isomerase I|tRNA-uridine isomerase I protein-coding 1606697 PUS10 pseudouridylate synthase 10 Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM] 19712588,19773279,20190752,20468071,19240061,19068216,17900615,15342556,14702039,14527409,12477932,21102463,21072187,20228799 150962 BC101680,BC101706,BC143480,BP354604,AL832208,NM_144709,AC010733,CH471053,AA878516,AK056874,AK291729 AAI01681,AAI01707,Q3MIT2,CAI46123,NP_653310,EAX00022,EAX00023,EAX00024,EAX00025,EAX00026,EAX00027,BAB71300,BAF84418 Hs.368348 CCDC139|DOBI|FLJ32312|MGC126729|MGC126755 coiled-coil domain containing 139|coiled-coil domain-containing protein 139|pseudouridine synthase 10|psi55 synthase|putative tRNA pseudouridine synthase Pus10|tRNA pseudouridine 55 synthase|tRNA pseudouridylate synthase|tRNA-uridine isomerase protein-coding 1345902 PUS3 pseudouridylate synthase 3 737633 16341674,15489334,14702039,12477932,11027153 737633 83480 AP000842,CH471065,NM_031307,AF325689,AK055702,AK074218,AK314251,BC004822,BC013427,BM786445 NP_112597,EAW67667,AAG50280,BAB70990,BAG36917,AAH04822,AAH13427,Q9BZE2,ABM87652,ABM87653,ABW03906,ABW03597 Hs.660922 2610020J05Rik|FKSG32|FLJ23638 tRNA pseudouridine synthase 3|tRNA pseudouridylate synthase 3|tRNA-uridine isomerase 3 protein-coding 1603643 PUS7 pseudouridylate synthase 7 homolog (S. cerevisiae) 15489334,14702039,12853948,12477932,11572484,20379614 54517 NM_019042,AC073138,AC074013,CH236947,CH471070,AB067484,AK000492,AK091283,AK128629,BC005209,BC011396 NP_061915,AAS07447,AAS02005,EAW83363,EAW83364,BAB67790,BAA91203,BAG52324,BAG54704,AAH05209,AAH11396,Q96PZ0 Hs.520619 FLJ20485|KIAA1897|MGC17720 OTTHUMP00000212076|pseudouridylate synthase 7 homolog protein-coding 1606495 PUS7L pseudouridylate synthase 7 homolog (S. cerevisiae)-like 16381901,16344560,15489336,14702039,12477932,11230166,11076863,9373149,8125298,20379614,19913121,20628086 83448 NM_031292,NM_001098614,NM_001098615,AC016143,AC093012,CH471111,AK092030,AK097331,AK225903,AL136759,BC018000,BC020781,BC033621,BC068502,BX647494,CR627435,DB073931,DB518759 NP_112582,NP_001092084,NP_001092085,EAW57866,BAG53453,CAB66693,AAH20781,AAH33621,AAH68502,CAH10521,Q9H0K6,CAL37849 Hs.445814 DKFZp434G1415|DKFZp781B2386|FLJ34711|FLJ40012 pseudouridylate synthase 7 homolog-like protein protein-coding 1353807 PUSL1 pseudouridylate synthase-like 1 737633,1580863 16303743,15489334,14702039,12477932,17207965 737633 126789 AL139287,CH471183,CQ784021,AK027721,AK075292,AK298218,BC034304,CR604312,NM_153339 ADQ31889,Q8N0Z8,NP_699170,CAI23172,EAW56245,CAF86973,BAC11527,BAG60488,AAH34304 Hs.400659 FLJ90811 tRNA pseudouridine synthase-like 1|tRNA pseudouridylate synthase-like 1|tRNA-uridine isomerase-like 1 protein-coding 735961 PVALB parvalbumin The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. [provided by RefSeq] 1580863 18469313,18297277,17850980,17405923,17244347,15489334,15461802,15257133,15059934,12867516,12477932,10591208,10036163,8804689,8354278,7790883,2614829,1561106,1559707,20093724 5816 NM_002854,CH471095,X52695,X63578,Z82184,Z82185,AA771973,AI262242,AK311832,BC069300,BC096112,BC096113,BC096114,BC096115,CR456552,X63070 NP_002845,EAW60118,EAW60119,EAW60120,EAW60121,CAA36924,CAA45134,CAI23584,CAI23585,BAG34774,AAH69300,AAH96112,AAH96113,AAH96114,AAH96115,CAG30438,P20472,CAK54583,CAK54882,CAA44792 Hs.295449 D22S749|MGC116759 OTTHUMP00000197806|OTTHUMP00000197807|OTTHUMP00000197808|parvalbumin alpha protein-coding 736513 PVR poliovirus receptor The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,12913096,2538245,15039383,16831868,2170108,15034010,19319949,19056733,19011098,17893876,17534374,17507470,17446174,16344560,16335952,16216929,15640804,15607800,15536144,15489334,15471548,15279713,15194795,15194502,15136589,15076773,15057824,14702039,14652024,12943679,12759359,12663789,12477932,12195344,12011057,11983699,11751937,11573956,11437656,10841575,10737800,10618374,7914388,1851992,1701111,1331527,20634891,20331633,16304049,19011627,19801517,19815499 5817 DA849917,DC400059,M24406,M24407,NM_006505,NM_001135768,NM_001135769,NM_001135770,NG_008781,AC068948,CH471126,X64116,AI374885,AK025949,AK094177,AK098812,AK290946,AK300349,BC015542,BE838104,CA416069,HH958003 AAA36462,AAA36461,P15151,ABM81895,ABM85069,NP_006496,NP_001129240,NP_001129241,NP_001129242,AAF69803,EAW57284,EAW57285,EAW57286,CAA45478,CAA45479,CAA45480,BAG52836,BAF83635,BAG62091,AAH15542,CBX51265 Hs.171844 CD155|FLJ25946|HVED|NECL5|Necl-5|PVS|TAGE4 nectin-like 5|nectin-like protein 5|poliovirus receptor|tumor-associated antigen 1 protein-coding 1604301 PVRIG poliovirus receptor related immunoglobulin domain containing 16926269,12477932,9373149,8125298,17207965 79037 NM_024070,AC005071,CH236956,CH471091,CQ834392,BC001129,BC032113,BC073861,BC107873,BC112090,BC112092,CR596791,CR597586,CR612233,CR622860 NP_076975,EAW76566,EAW76567,CAH05411,AAH01129,AAH73861,AAI07874,Q6DKI7,Q8ND88,ADQ31964 Hs.521075 C7orf15|MGC104322|MGC138295|MGC138297|MGC2463 poliovirus receptor-related immunoglobulin domain-containing protein|transmembrane protein PVRIG protein-coding 1350722 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) 1580863,1599795 12438620,9616127,12885915,10932188,10225955,19457990,19408722,18983929,18978678,18803666,18451037,18356023,18076965,17164781,17089422,17005657,16674562,16497481,16335952,16247549,16122939,15857834,15731277,15489334,15146195,15110526,14702039,12915568,12515806,12477932,12072519,12011057,11756979,11559849,11356977,10617658,9861033,9811737,9758630,8889548,7721102,1776626,20501653,20543867,20572854,20634891,20672350,11544254,12764381,16679515,19715471,20379614,9696799,9845526 1599795 5818 AI819997,AK056455,AK091231,AK095375,AY029539,BC007379,BC021976,BC044230,BC064140,BC086309,BC104948,BC113471,BQ188335,X76400,NM_002855,NM_203285,NM_203286,AF196774,AF252867,AF373875,AF373876,AP003390,AP003393,AY445578,AY445579,AY445581,CH471065,AF060231,AF110314,NG_013083 AAK33124,AAI04949,AAI13472,CAA53980,Q15223,Q6SYC0,Q6SYC1,Q6SYC2,Q8WXR2,Q8WXR3,NP_002846,NP_976030,NP_976031,AAG16649,AAG16648,AAL47715,AAL47716,AAR88250,AAR88251,AAR88252,EAW67492,EAW67493,EAW67494,AAC23798,AAD04944,ADR83051 Hs.334846 CD111|CLPED1|ED4|HIgR|HVEC|MGC142031|MGC16207|OFC7|PRR|PRR1|PVRR|PVRR1|SK-12|nectin-1 ectodermal dysplasia 4 (Margarita Island type)|herpes virus entry mediator C|herpesvirus Ig-like receptor|nectin 1|poliovirus receptor-like 1|poliovirus receptor-related protein 1 protein-coding 1319880 PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 12915581,15039383,16831868,10225955,18823527,17696193,17534374,17376543,17081983,16740910,16738668,16344560,16313259,16304049,16189514,15607800,15536144,15489334,15465608,15146197,12477932,12438620,12011057,11984219,11602758,9657005,20662561,20410314,20885792,9845526,12913096,10733589,10729168,10627537,10520737,10196354,9683266,7622062,10617658,16169070,20572854,20628086,20634891,20672350,20617580,11544254,15811349,19011627,19478445,19815499,19913121 5819 NM_002856,AC011481,AC093232,AF044962,AF044963,AF044964,AF044965,AF044966,AF044967,AF044968,AF050154,AY331689,AY331691,AY331694,CH471126,AF058448,AJ708439,AK291330,BC003091,BQ549399,CN359643,CN410857,NM_001042724,CR456818,CR600069,CR604055,CR611629,CR624532,CR625208,DA198252,X80038 NP_001036189,NP_002847,AAC82348,AAC82347,AAD02503,AAQ19176,AAQ19177,AAQ19178,EAW57298,EAW57299,AAC23797,BAF84019,AAH03091,CAG33099,CAA56342,Q7Z456,Q7Z457,Q7Z458,Q92692,Q9UEI6,ABM82755,ABM85941 Hs.655455 CD112|HVEB|PRR2|PVRR2 herpes virus entry mediator B|herpesvirus entry mediator B|herpesvirus entry protein B|nectin 2|nectin-2|poliovirus receptor related 2|poliovirus receptor-like 2|poliovirus receptor-related protein 2 protein-coding 1319897 PVRL3 poliovirus receptor-related 3 Nectins (e.g., PVRL1; MIM 600644) are immunoglobulin-like adhesion molecules that interact with afadin (AF6; MIM 159559). Afadin is an actin filament-binding protein that connects nectins to the actin cytoskeleton. The nectin-afadin system organizes adherens junctions cooperatively with the cadherin (see MIM 192090)-catenin (see MIM 116805) system in epithelial cells.[supplied by OMIM] 1580863 12438620,16216929,15489334,12759359,12515806,12477932,12011057,11024295,10744716,19913121,20628086,20634891,10225955,11544254,19011627,9845526 25945 NM_015480,AC133477,AC137833,CH471052,AF282874,AK075105,AL050071,BC001336,BC017572,BC067808 NP_056295,EAW79703,AAF97597,BAC11404,CAB43256,AAH01336,AAH17572,AAH67808,Q8NC05,Q9NQS3 Hs.293917 CD113|CDw113|DKFZp566B0846|FLJ90624|PPR3|PRR3|PVRR3|nectin-3 OTTHUMP00000214485|OTTHUMP00000214492|nectin 3|poliovirus receptor-related protein 3 protein-coding 1347607 PVRL4 poliovirus receptor-related 4 Poliovirus receptor-like proteins (PVRLs), such as PVRL4, are adhesion receptors of the immunoglobulin superfamily and function in cell-cell adhesion (Reymond et al., 2001 [PubMed 11544254]).[supplied by OMIM] 737633,1580863 10225955,15811349,19679554,9845526,20691405,17474988,16344560,15784625,14702039,12477932,12011057,11544254,20959669 737633 81607 NM_030916,AL591806,CH471121,AF160477,AF218028,AF426163,AK027753,AK298981,AK301481,BC010423,BC013892,CF529301,DB223835,BX641083,NG_028109 NP_112178,CAI15376,EAW52665,EAW52666,AAF82399,AAG17270,AAL23958,BAB55344,BAG61075,BAG62996,AAH10423,Q96NY8,ABM84430,ABM87482 Hs.492490 DKFZp686K05193|EDSS1|LNIR|PRR4|nectin-4 Ig superfamily receptor LNIR|nectin 4|poliovirus receptor-related protein 4 protein-coding 1348372 PVT1 Pvt1 oncogene (non-protein coding) 17908964,17881614,17503467,17395743,16341674,14702039,12477932,3024964,2725491,2470097,2181290,19270707,19549893,20694011,21037568 5820 AC026248,AC084123,AC103705,AC103819,M26714,M31519,X04620,AK128687,AK129745,BC033263,BC041065,BM821521,BX648921,D79458,M25803,M34428,M34429,M34430,M34431,NR_003367 Hs.675281,Hs.133107 MGC21751|NCRNA00079 miscrna 1347394 PWCR Prader-Willi syndrome chromosome region 5821 1342546 PWCR1 Prader-Willi syndrome chromosome region 1 11726556,11106375,11007541 63968 NR_003106,NG_002690,AC124312,AF250841,AF241255 Hs.658578 PET1 miscrna 1605095 PWP1 PWP1 homolog (S. cerevisiae) 7828893,17081983,16565220,15761153,15302935,12477932,11850830,11790298,9373149,8895530,8125298,20028516 11137 AC007622,CH471054,AK223162,AK290681,AK296252,AK297961,BC000067,BC001652,BC010921,BC032127,BC040135,BC046144,CR592802,CR593843,CR595438,CR597861,CR614481,CR620047,CR621244,NM_007062,L07758,Z36804,Z36805 NP_008993,EAW97802,EAW97803,BAD96882,BAF83370,BAG58967,BAG60273,AAH00067,AAH01652,AAH10921,AAH32127,AAH40135,AAH46144,AAA65201,Q05BL3,Q13610,Q53FW9,Q6PIN4,Q6PKI5,Q7Z3X9,Q86X79,Q9BV37,ABM83661,ABM86908,ABM87013 Hs.506652 IEF-SSP-9502 keratinocyte protein IEF SSP 9502|nuclear phosphoprotein similar to S. cerevisiae PWP1|periodic tryptophan protein 1 homolog protein-coding 1317740 PWP2 PWP2 periodic tryptophan protein homolog (yeast) 1580863 8661145,8893822,15489334,12477932,12429849,10830953,9205129,18029348,9196060,8973917,8889548,16169070,16341674,19615732 5822 BX452317,CR601365,U53346,U56085,X95263,AB001517,AB001523,AP001753,CH471079,U56089,X96424,X96425,AB209438,AI968015,AK314184,BC013309,BC014988,BM457858,BM835826,BU683943,BX387451,NM_005049 AAB08084,AAC50904,CAA64560,Q15269,Q59FM2,NP_005040,BAA21137,BAA21100,BAA95553,EAX09458,AAC50905,CAA65284,CAA65285,BAD92675,BAG36865,AAH13309,AAH14988 Hs.449076 EHOC-17|PWP2H periodic tryptophan protein 2 homolog protein-coding 2303844 PWRN1 Prader-Willi region non-protein coding RNA 1 17337158,12477932,19471314 791114 NR_026646,AC139147,BC034815,AC139362,NG_016177 Hs.720900 FLJ25418|NCRNA00198 miscrna 2303843 PWRN2 Prader-Willi region non-protein coding RNA 2 17337158,12477932 791115 AK124131,NR_026647,AC087474,BC032951,BC070120 Hs.560378 FLJ42137|NCRNA00199 miscrna 1642916 PWWP2A PWWP domain containing 2A 14702039,12477932,11572484 114825 NM_052927,NM_001130864,AC008706,CH471062,AB067522,AF173385,AI972512,AK055921,AV720552,BC018680,BC035076,BC039106,BC105110,BC143437,DB450981 NP_443159,NP_001124336,EAW61568,EAW61569,BAB67828,AAQ13626,BAB71045,AAH35076,AAI05111,Q7Z4D8,Q96N64 Hs.438851 KIAA1935|MGC132770|MST101 MSTP101|PWWP domain-containing protein 2A protein-coding 1316105 PWWP2B PWWP domain containing 2B 15489334,15302935,15164054,14702039,12477932 170394 NM_138499,NM_001098637,AL590105,CH471287,AF318365,AK096940,AK128663,AW166547,BC011630,BC068574,BG260395,DB477789 NP_612508,NP_001092107,CAI13020,EAW49120,AAL55872,AAH11630,AAH68574,Q6NUJ5,Q8WYT6 Hs.527751 FLJ39621|FLJ46823|PWWP2|RP11-273H7.1|bA432J24.1|pp8607 PWWP domain containing 2|PWWP domain-containing protein 2B protein-coding 1607083 PXDN peroxidasin homolog (Drosophila) Drosophila peroxidasin is an extracellular matrix-associated peroxidase (Horikoshi et al., 1999 [PubMed 10441517]). It is expressed exclusively in hemocytes derived from head mesoderm at a very early stage of differentiation. Peroxidasin exists as a homotrimer with a unique hybrid structure that combines an enzymatically functional peroxidase domain with motifs that are typically found in extracellular matrix-associated proteins. It is a secreted protein that contains a secretory recognition sequence at its N terminus. Peroxidasin catalyzes hydrogen peroxide-driven radioiodination, oxidations, and the formation of dityrosine in vitro. It is also thought to function in extracellular matrix consolidation, phagocytosis, and defense.[supplied by OMIM] 15146197,11103812,16344560,14702039,12477932,10441517,9039502,7959781,12023963,18929642,19590037,19724895,19851296,20198315,20379614,20800603 7837 NM_012293,AC009471,CH471053,AF200348,AK098167,BC009496,BC030834,BC041027,BC070119,BC098579,CN359024,CN359026,D86983,DA866300,EF090903 NP_036425,EAX01084,EAX01085,AAF06354,AAH09496,AAH98579,BAA13219,ABO25865,Q92626,Q96GF5,AAI40296 Hs.332197 D2S448|D2S448E|KIAA0230|MG50|PRG2|PXN|VPO OTTHUMP00000199943|melanoma-associated antigen MG50|p53-responsive gene 2 protein|peroxidasin homolog|vascular peroxidase 1 protein-coding 1606718 PXDNL peroxidasin homolog (Drosophila)-like 16421571,16344560,14702039,12477932,20800603,18929642,20237496,20379614 137902 NM_144651,AC011128,AC012413,AC090186,AC103958,AC107374,CH471068,AI127081,AK058200,AK131524,AY877349,BC132813,DB337228,EU170240 NP_653252,EAW86707,EAW86708,BAB71713,BAD18663,AAX70929,ABX24517,A1KZ92 Hs.444882 FLJ25471|VPO2 cardiac peroxidase|cardiovascular peroxidase 2|peroxidasin homolog-like|peroxidasin-like protein|vascular peroxidase 2 protein-coding 1342516 PXE pseudoxanthoma elasticum 4841083,10585762 5823 1348394 PXK PX domain containing serine/threonine kinase PXK binds to the Na,K-ATPase beta-1 (ATP1B1; MIM 182330) and beta-3 (ATP1B3; MIM 601867) subunits and modulates both Na,K-ATPase enzymatic and ion pump activities (Mao et al., 2005 [PubMed 16135750]).[supplied by OMIM] 18029348,20829310,20848568,20881011,20962850,20973039,16142408,18204446,16135750,19225526,15489334,14702039,12477932,20086096,20379614,20453842 54899 NM_017771,AC098479,AC135507,CH471055,AB209688,AF399753,AK000342,AK131385,AK295542,AK296034,AK296215,AY274811,AY437879,AY847220,AY847221,AY847222,BC008943,BC014479,BC108670,CR601001,DQ124707,DQ124708 NP_060241,EAW65368,EAW65369,EAW65370,BAD92925,AAK94455,BAA91097,BAD18536,BAG58451,BAG58800,BAG58940,AAP42076,AAR98521,AAX73352,AAX73353,AAX73354,AAH08943,AAH14479,AAI08671,AAZ38821,AAZ38822,Q32NE9,Q7Z7A4 Hs.190544 FLJ20335|MONaKA OTTHUMP00000214171|OTTHUMP00000214175|OTTHUMP00000214179|PX domain-containing protein kinase-like protein|PX ser/thr kinase v2|PX serine/threonine kinase|modulator of Na,K-ATPase long form protein-coding 1347054 PXMP2 peroxisomal membrane protein 2, 22kDa 1580863 16683188,12477932,11590176,10704444,8624723 5827 NM_018663,AC135586,CH471218,AF250136,AY044439,BC009836,BC073997 NP_061133,EAW54828,EAW54829,AAF73963,AAK95858,AAH09836,AAH73997,Q96GB0,Q9NR77 Hs.430299 FLJ54922|PMP22 22 kDa peroxisomal membrane protein|peroxisomal membrane protein 2 protein-coding 1349650 PXMP3 peroxisomal membrane protein 3, 35kDa This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 10837480,1546315,12751901,18391951,16344560,16169070,15542397,15489334,12477932,10891359,10528859,9765053,9452066,8858157,8020947,7600573,2454948,1750930,1426230,20546612,15342556,20379614,7681622,21102462 5828 NM_000318,NG_008371,AC090810,AF133823,AF133824,AF133825,AF133826,CH471068,AK312997,BC000661,BC005375,BC093043,BX093361,CR590023,CR591298,CR596267,CR599356,CR609585,NM_001079867,CR610629,CR623390,CR626340,DA210382,M85038,M86852,BP193912,BU561273,NM_001172086,NM_001172087 NP_001073336,NP_000309,AAF97687,EAW87052,BAG35833,AAH00661,AAH05375,AAH93043,AAA60141,AAC12785,P28328,Q6GU86,ABZ92521,NP_001165557,NP_001165558 Hs.437966,Hs.703022 PAF-1|PAF1|PEX2|PMP3|PMP35|PXMP3|RNF72|ZWS3 35 kDa peroxisomal membrane protein|RING finger protein 72|peroxisomal biogenesis factor 2|peroxisomal membrane protein 3, 35kDa|peroxisome assembly factor 1|peroxisome assembly factor-1|peroxisome biogenesis factor 2 protein-coding 1348847 PXMP4 peroxisomal membrane protein 4, 24kDa 1580863 10366717,15489334,14709540,14702039,12477932,11780052,11230166,10704444,11256614,17207965 11264 NM_183397,NM_007238,AL050349,AL121906,CH471077,AF072864,AI985147,AK023879,AK128879,AK297018,AK301532,AK316589,AL136648,BC001147,BQ278083,CR533471,DB495125 NP_899634,NP_009169,CAC14086,EAW76298,AAD43195,BAG51232,BAG59550,BAG63033,BAG38177,CAB66583,AAH01147,CAG38502,Q6FIF5,Q9Y6I8,ACE87544,ACE86857,ADQ33215 Hs.654857 PMP24 24 kDa peroxisomal intrinsic membrane protein|peroxisomal membrane protein 4 protein-coding 1313984 PXN paxillin 1580863,2300344 10092539,7493940,12639940,10417825,15023529,14523024,10896954,11598204,11694518,11113628,11096073,9603926,10655584,8986614,12033289,7657702,7525621,11805099,12234367,11134073,15719014,15793570,20395438,20628053,21043826,10604475,10330411,9785458,9621077,12149250,11919182,11514617,10753828,10455189,9756887,9442086,9422762,8922390,11304546,12153727,12629171,11950600,8641358,10085298,8609175,10625692,10400685,9497381,11857088,10804218,7529872,11035932,11704675,11577104,8810278,9590268,11278335,10675325,12006652,12118253,10080957,9488700,11683411,11533025,10082579,11036077,9099734,12198159,11251077,14688263,9054445,10840040,12686598,7534286,15574420,19401330,19358827,19353596,19151925,19082453,18986306,18940607,18818208,18813807,18713649,18676874,18664639,18632638,18508764,18449907,18380937,18327407,18172305,18078823,18045996,17574549,17513457,17462669,17298394,17233630,17187346,17081983,16964243,16552730,16541075,16365170,16344560,16341674,16212439,16212419,16094384,16040804,15951569,15870699,15817476,15770719,15652490,15652337,15592455,15252114,15242880,15191880,15175910,15155793,14970194,14702039,14699151,12861019,12853963,12837751,12794117,12477932,11928806,11820787,11779709,11774284,11759057,11477105,11181995,10938112,10749932,11463817,20525696,11337490,11695992,11784715,11825902,12941817,14585963,14627618,14636584,15107421,16537926,16628223,16936772,17082770,17449030,19167335,19481075,19492042,19615356,19642098,19817696,19917054,20097761,20127017,20133777,20210243,8978305,9230116,9658172,9759889,20136697 2300344 5829 AK299486,AK314204,BC003647,BC006840,BC010498,BC015217,BC052611,BC136787,BC136794,BC144410,BM742662,BU500419,BX648777,D86862,D86863,DA105135,U14588,NM_002859,NM_001080855,NM_025157,AC004263,CH471054,U87946,AB209034,AK026695,AK122964,AK128712,AK298057 BAG61448,BAG36880,AAH03647,AAH52611,AAI36788,AAI36795,AAI44411,CAI46024,BAA18997,BAA18998,AAC50104,P49023,Q59GS5,Q6ZQU7,Q9BTK0,BAG60351,NP_002850,NP_001074324,NP_079433,AAC05175,EAW98175,EAW98176,EAW98177,EAW98178,EAW98179,AAD00648,BAD92271,BAB15529,BAG53822,BAC87586 Hs.446336 FLJ16691 paxillin protein-coding 1349206 PXT1 peroxisomal, testis specific 1 18160785,12477932,20068295 222659 AL136135,BC031105,NM_152990,AL133263,CH471081,AF486827,BC107049 NP_694535,EAX03891,AAN03789,AAH31105,AAI07050,Q8NFP0 Hs.520097 MGC129569|STEPP OTTHUMP00000216611|peroxisomal testis-specific protein 1|small testis-specific peroxisomal protein protein-coding 1602723 PYCARD PYD and CARD domain containing This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 15030775,12019269,10567338,12656673,19324871,19234215,19223547,19201894,18945969,18791131,18701507,18348116,18311798,18263805,17986858,17964261,17599361,17048097,16964285,16848908,16777061,16715133,16425203,16189514,16037825,15701651,15641782,15489334,15456791,15041718,15020601,14985395,14730312,14702039,14643031,14634131,14499617,12949795,12800194,12776200,12646168,12615073,12553049,12486103,12477932,12191486,12054656,11967258,11786556,11733524,11498534,11374873,11250163,11103777,11103776,10847592,20500518,20808838,20148899,17178784,17339483,17418785,19443857,19636848,19661336,19759015,19759850,20020448,21036703,20140741 29108 NM_145182,NM_013258,AC009088,AF184072,CH471192,AB023416,AF184073,AF255794,AF310103,AF384665,AK000211,AK314422,BC004470,BC013569 NP_660183,NP_037390,AAG01187,EAW52148,EAW52149,BAA87339,AAG01188,AAF99665,AAG30286,AAK63850,BAA91012,BAG37041,AAH04470,AAH13569,Q9ULZ3 Hs.499094 ASC|CARD5|MGC10332|TMS|TMS-1|TMS1 PYD and CARD domain-containing protein|apoptosis-associated speck-like protein containing a CARD|caspase recruitment domain protein 5|caspase recruitment domain-containing protein 5|hASC|target of methylation-induced silencing 1|target of methylation-induced silencing-1 protein-coding 1317303 PYCR1 pyrroline-5-carboxylate reductase 1 This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 1730675,19576563,16730026,15489334,12477932,9373149,8880459,8125298,6894153,6253048,6201483,2722838,212173,19648921,17207965 5831 NM_006907,AC145207,CH471099,AF218000,AK225879,AK297627,AY513285,BC001504,BC022244,BC071842,CR541769,CR590051,CR590479,CR592144,CR595130,CR597376,CR602898,CR605144,CR606824,CR607700,CR607829,CR608872,CR610838,CR611221,CR613661,CR615012,CR615796,CR620816,M77836,NM_153824,NG_023032,HQ154643,HQ154644 Q2TU78,Q8TBX0,NP_722546,NP_008838,EAW89717,EAW89718,EAW89719,EAW89720,EAW89721,EAW89722,EAW89723,EAW89724,EAW89725,EAW89726,AAG17242,BAG60002,AAT08038,AAH01504,AAH22244,AAH71842,CAG46568,AAA36407,P32322,ADU15815,ADU15816,ADQ32305 Hs.163451 ARCL2B|P5C|P5CR|PIG45|PP222|PRO3|PYCR P5C reductase 1|P5CR 1|mitochondrial pyrroline-5-carboxylate reductase 1|proliferation-inducing protein 45|pyrroline-5-carboxylate reductase 1, mitochondrial protein-coding 1320768 PYCR2 pyrroline-5-carboxylate reductase family, member 2 737633 16713569,16710414,15489334,15231748,14702039,12477932,17207965 737633 29920 CR617528,CR618204,CR618300,CR620489,CR621692,CR622717,CR625163,AL117348,CH471098,NM_013328,AF087859,AF151351,AK001508,AK291913,AL834217,BC014868,BC020553,CR591913,CR594685,CR604163,CR608543,CR608901,CR608958,CR610157,CR610465,CR611703,CR613758 Q4W8W1,Q5TE92,Q5TE93,Q8NCZ0,Q96C36,NP_037460,CAI21800,CAI21801,CAI21802,CAI21803,EAW69761,EAW69762,EAW69763,EAW69764,EAW69765,AAP97169,AAD34611,BAG50929,BAF84602,CAD38899,AAH14868,AAH20553,ADQ32281 Hs.654718 FLJ54750|P5CR2 P5C reductase 2|P5CR 2|pyrroline 5-carboxylate reductase isoform|pyrroline-5-carboxylate reductase 2 protein-coding 1319273 PYCRL pyrroline-5-carboxylate reductase-like 1580863 19615732,14702039,12477932,11591653,9373149,8125298,17207965,16344560 65263 NM_023078,AC067930,CH471162,AF086378,AK001500,AK023914,AK222685,AK225404,AK294615,AK295444,AK301225,AL833857,BC007993,DA403767,DA629534 NP_075566,EAW82223,EAW82224,EAW82225,BAG50927,BAB14721,BAD96405,BAG57798,BAG58383,BAG62798,CAD38716,AAH07993,Q53H96,ADQ31885 Hs.165186 FLJ13852 OTTHUMP00000211293|P5C reductase 3|P5CR 3|pyrroline-5-carboxylate reductase 3|pyrroline-5-carboxylate reductase-like protein protein-coding 1605835 PYDC1 PYD (pyrin domain) containing 1 12656673,18031289,16905547,16403450,15489334,12477932,11166558 260434 NM_152901,AC009088,CH471192,AF086332,AF454669,AF467809,AK313418,AY163727,BC105033,BC105035 NP_690865,EAW52147,AAL58439,AAN03745,BAG36211,AAO23114,AAI05034,AAI05036,Q8WXC3 Hs.58314 ASC2|POP1|PYC1 PAAD-only protein 1|pyrin domain containing 1|pyrin domain-containing protein 1|pyrin-domain containing protein 1|pyrin-only protein 1 protein-coding 2299013 PYDC2 pyrin domain containing 2 17339483,17178784 152138 NM_001083308,AC073365,AY858112 NP_001076777,AAX54598,Q56P42 Hs.690618 POP2|cPOP2 pyrin domain-containing protein 2|pyrin-only protein 2 protein-coding 736182 PYGB phosphorylase, glycogen; brain The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq] 1642822,2304109,1580863 20800603,3346228,10638593,17393985,17081983,15489334,12665801,12477932,12211109,11780052,9792273,8244401,7775103,3447179,2615594,20471030,17148452,19204726,19851296,20198315,20482380 1642822,2304109 5834 AL121772,CH471133,AB209080,AF432222,AK299697,AK309036,BC017045,BC030795,BQ433140,CR609882,J03544,U47025,NM_002862 NP_002853,CAC00661,CAI23473,EAX10091,EAX10092,EAX10093,BAD92317,AAL99928,BAG61600,AAH17045,AAH30795,AAA59597,AAB60395,P11216,Q59GM9,Q5JWL9,Q8TDG6,ABM85600,ABW03734 Hs.368157 MGC9213 brain glycogen phosphorylase|glycogen phosphorylase B|glycogen phosphorylase, brain form protein-coding 1352184 PYGBL phosphorylase, glycogen, brain-like 3346228 5835 731803 PYGL phosphorylase, glycogen, liver This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, or Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1300048,1642822,2304109,1642743,1582633,1599374,1601233,1580863 10949035,10980448,12204691,9529348,17705025,18029348,17081983,16344560,15489334,15223230,14684825,12477932,11093832,9536091,9373149,8125298,3509980,2883891,2877458,19615732,20379614,20800603 1642822,2304109,1642743,1582633,1599374,1601233 5836 BC095850,CR600182,CR614961,CR623284,CR623534,DA287767,M14636,M36807,Y15233,NM_002863,NM_001163940,NG_012796,AF046798,AL358334,CH471078,AA523002,AF046785,AF066858,AK225904,AK300580,AK309333,AK313206,AL134906,AY429567,BC009895,BC065011,BC082229,BC110791,CR593967,CR594898 AAA52577,AAA35906,CAA75517,P06737,Q6P1L4,NP_002854,NP_001157412,AAC18079,EAW65685,EAW65686,EAW65687,AAC23504,AAC17450,BAG62279,BAG36022,AAH09895,AAH65011,AAH82229,AAH95850,AAI10792 Hs.282417 GSD6 glycogen phosphorylase, liver form|liver glycogen phosphorylase|phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI) protein-coding 737329 PYGM phosphorylase, glycogen, muscle Glycogen phosphorylase (EC 2.4.1.1) catalyzes and regulates the breakdown of glycogen to glucose-1-phosphate.[supplied by OMIM] 1642822,1642743,2304109,1599985,1599987,1599990,1599897,1599991,1599993,1580863 9633816,17353931,19472443,19251976,18808785,17994553,17915571,17719780,17630210,17404776,17324573,16786513,16671104,16523484,16154688,16083285,15979037,15489334,14702039,14662163,12804600,12640006,12477932,12398832,12031624,11749054,11706962,11168025,10899452,10714589,10681080,10590419,10417800,10382912,10382911,9506549,8535454,8316268,7958997,7744850,7603523,6797345,3840433,3466902,3447177,2703328,1701414,1150650,18468620,10949035,19433441 1642822,1642743,2304109,1599985,1599987,1599990,1599897,1599991,1599993 5837 NM_005609,AP001462,CH471076,M32598,U94774,U94777,AF066859,AJ572752,AK056607,AK057547,AK299376,AK299461,AK314474,BC029305,BC126392,BC130514,M16013,X03031,BM987822,NG_013018,NM_001164716 NP_005600,EAW74284,EAW74285,AAA60231,AAC52081,AAC17451,BAG51762,BAG61366,BAG61428,BAG37079,AAI26393,AAI30515,AAA36216,CAA26834,P11217,NP_001158188,ADR83429 Hs.154084 glycogen phosphorylase, muscle form|muscle glycogen phosphorylase|myophosphorylase|phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) protein-coding 1346093 PYGO1 pygopus homolog 1 (Drosophila) 1580863 20936779,20403915,18498752,14612447,11988739,11955446 26108 NM_015617,AC012378,AC022083,CH471082,CQ897768,AF457207,AL049925,EF625686 NP_056432,EAW77492,CAH69779,AAL91370,CAB43209,ABU93489,Q9Y3Y4,AAI41425,AAI46573 Hs.256587 DKFZp547G0910 pygopus 1|pygopus homolog 1|pygopus-like protein 1 protein-coding 1343524 PYGO2 pygopus homolog 2 (Drosophila) 1580863 15489334,15146197,14702039,14612447,12477932,11988739,11955446,17113272,18314487,17203217,16964243,16609037,20637214,15498874,20204459,19555349,20937768 90780 NM_138300,AL451085,CH471121,CQ897766,AF289598,AF457208,AK090545,AK092389,AK095425,BC006132,BC013725,BC032099,CN260857,CR624320 NP_612157,CAI13243,CAI13244,EAW53172,EAW53173,CAH69778,AAL55782,AAL91371,BAC03474,BAC03877,AAH06132,AAH13725,AAH32099,Q5T170,Q5T171,Q8NBG9,Q9BRQ0,ABM84305,ABM86878 Hs.533597 1190004M21Rik|FLJ33226 pygopus 2|pygopus homolog 2 protein-coding 1606702 PYHIN1 pyrin and HIN domain family, member 1 PYHIN1 belongs to the HIN200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-terminal ends. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis (Ding et al., 2006 [PubMed 16479015]).[supplied by OMIM] 18247378,16479015,16344560,15122330,12477932,20595294,20379614 149628 NM_152501,NM_198929,NM_198928,NM_198930,AL359753,AK024890,AK308350,AY185344,AY185345,AY185346,AY185347,BC020822,BC073133,BC090944,BC114470,BC139741,DB126431 NP_689714,NP_945147,NP_945146,NP_945148,CAI15075,CAI15076,CAI15077,CAI15078,CAI15079,CAI15080,AAO67506,AAO67507,AAO67508,AAO67509,AAH20822,AAH90944,AAI39742,Q6K0P9 Hs.710248 IFIX|MGC23885|RP11-520H16.1 interferon-inducible protein X|pyrin and HIN domain-containing protein 1 protein-coding 1605346 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 16344560,12477932,8889548,16189514,14702039,15252450,20379614 79912 NM_024854,AC006559,CH471094,AK025681,AK125461,AK293820,AK307710,AL832441,BC021662,BM980368,CR594393,DB041552,AK095813,DQ786312 NP_079130,EAW96428,EAW96429,EAW96430,EAW96431,EAW96432,EAW96433,BAB15214,BAG54200,BAG57225,CAH10632,AAH21662,Q8WU10 Hs.709545 FLJ22028 pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 protein-coding 1353326 PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 16385451,14702039,12477932,9373149,8125298,15489334,15164054 84795 AL139243,CH471066,AF461898,AK022259,AK074429,AK075265,AK123713,AK225637,AK295699,BC006131,BC035712,BC050574,CR597626,CR613634,CR620799,CR623142,DC361966,NM_032709 NP_116098,CAI14149,EAW49884,EAW49885,AAQ04812,BAC11507,BAG58547,AAH06131,Q8N2H3,ABM84344,ABM87786 Hs.238303,Hs.676105 C10orf33|FLJ12197|FLJ23849|FP3420|MGC13047 pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 protein-coding 1348512 PYY peptide YY 1625281,1580863 18577758,3840109,3517149,3202875,2721879,2587421,12665544,19737911,19820027,20468064,18239577,7782089,10698177,7592911,10488139,7493937,19344792,19247279,19086053,19058789,19011469,18987287,18929607,18622237,18567824,18534636,18486583,18154642,17936861,17934448,17726080,17597642,17325259,17235527,17138722,17119001,17087952,17045646,16907966,16828127,16819834,16720664,16563563,16420657,16368708,16362815,16278259,16204364,16174724,15998659,15983231,15972581,15855352,15489334,15331560,14687084,12477932,11825656,11825655,11825654,11825653,11825650,11825649,11825641,11825640,11408607,11278902,10029457,8318545,19913121,20602615,20628086,20642810,20375207,2834384,19875990 1625281 5697 NM_004160,AC007993,AC023855,CH471178,D13897,L25648,BC041057,CR542129,D13899,D13902,NG_023338 NP_004151,EAW51644,EAW51645,EAW51646,BAA02997,BAA02998,AAA36433,AAH41057,CAG46926,BAA03000,BAA03002,P10082 Hs.169249 PYY1 PYY-I|peptide YY|peptide tyrosine tyrosine 1643448,1643463,2289501,2289511 BW109_H,BW110_H,BW444_H,BW453_H protein-coding 1345281 PYY2 peptide YY, 2 (seminalplasmin) 15855352,11825642,10756099,7831336 23615 NR_003064,AC061975,CH471159,AF222904 EAW51064,AAF73876,Q9NRI6 Hs.157195 pseudo 1625819 PYY3 peptide YY, 3 644059 NG_007615,AL663118 pseudo 736140 PZP pregnancy-zone protein 1580863 2692707,14718574,19105203,17257854,16344560,16335952,12477932,11811950,9344465,8662763,8620037,7513640,6209714,2478422,2476433,2462561,2415522,1989698,1702714,1692292,20708005,20379614 5858 NM_002864,AC010175,CH471116,M24416,X51541,AK302259,AK308724,AK313639,BC111756,DB040351,X54380 NP_002855,EAW88588,EAW88589,AAA60234,CAA35919,BAH13658,BAG36397,AAI11757,CAA38255,P20742 Hs.707491 CPAMD6|MGC133093 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 6|pregnancy zone protein protein-coding 737584 ProSAPiP1 ProSAPiP1 protein 16522626,12477932,11780052,9628581 9762 NM_014731,AL121891,CH471133,AB011124,BC038860 NP_055546,CAC09910,EAX10545,EAX10546,EAX10547,BAA25478,AAH38860,O60299,ABM86581 Hs.90232 KIAA0552 OTTHUMP00000160460|proSAP-interacting protein 1|proline rich synapse associated protein interacting protein 1 protein-coding 1346181 QARS glutaminyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq] 1580863 8078941,14667819,16189514,15592455,15489334,15231748,14702039,12477932,11096076,10913161,10801842,10791971,10393422,9878398,9373149,8125298,1651330,16169070,11714285,16055448,8052601,8188258,8449960,9278442 5859 NM_005051,AC135506,CH471055,AF130067,AK056815,AK222510,AK290523,AK293260,AK297987,AK300220,AK301559,BC000394,BC001567,BC001772,BC016634,BC029739,X76013,AK302867 NP_005042,EAW64952,EAW64953,EAW64954,AAG35495,BAD96230,BAF83212,BAG56792,BAG60295,BAG61988,BAG63054,AAH00394,AAH01567,AAH01772,AAH16634,AAH29739,CAA53600,P47897,Q53HS0,Q96AW5,Q9BUZ3,Q9H3A5,BAH13826 Hs.79322 GLNRS|PRO2195 OTTHUMP00000210572|glutamine tRNA ligase|glutamine--tRNA ligase|glutamine-tRNA synthetase|glutaminyl-tRNA synthetase protein-coding 734380 QDPR quinoid dihydropteridine reductase This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq] 1300048,1580863,1601577,4139904 3033643,11256614,19405953,19027726,18444252,17188538,16381901,16341674,15489336,15489334,15009710,14718574,12477932,11937441,11153907,11076863,10408783,9744478,9427141,9373149,8326489,8262916,8137944,8125298,7627180,6797415,6746636,3718470,3711039,3666748,3587329,3031582,2330583,2116088,1160969,11461190,20471030,19491146,19674121,20201926,20379614,20468064,20877624 1601577,4139904 5860 NG_008763,AB053170,AC006160,AC093600,AJ006239,CH471069,AK124382,AK223437,AK289773,AK296622,AW104747,BC000576,BM762805,CR591242,CR595211,CR596771,CR602964,CR608945,CR614918,CR617908,CR622555,CR624599,M16447,X04882,NM_000320 ABM82852,ABM86039,NP_000311,BAB20429,CAA06930,EAW92774,EAW92775,EAW92776,EAW92777,EAW92778,BAG54033,BAD97157,BAF82462,BAH12401,AAH00576,AAA52305,CAA28571,P09417,CAL38594 Hs.75438 DHPR|FLJ42391|PKU2|SDR33C1 6,7-dihydropteridine reductase|HDHPR|OTTHUMP00000217800|OTTHUMP00000217802|OTTHUMP00000217914|OTTHUMP00000217915|dihydropteridine reductase|short chain dehydrogenase/reductase family 33C, member 1 protein-coding 1319346 QKI quaking homolog, KH domain RNA binding (mouse) QKI belongs to a family of RNA-binding proteins that have an HNRNPK (MIM 600712) homology (KH) domain embedded in a 200-amino acid region called the GSG domain. Other members of this family include SAM68 (KHDRBS1; MIM 602489) and SF1 (MIM 601516) (Chen and Richard, 1998 [PubMed 9671495]). QKI proteins regulate RNA splicing, export of target RNAs from the nucleus, translation of proteins, and RNA stability (Lauriat et al., 2008 [PubMed 17918747]).[supplied by OMIM] 16713569,18938205,18615156,17918747,17787018,17079655,16641098,16205629,16189514,15489334,14702039,14574404,12529443,12511597,12477932,11917126,11856480,10535969,9671495,7829101,17207965,17012699,16342280,18029348,19545858,19615732,19686745 9444 NM_206855,NM_206854,NM_206853,AB067808,AL031781,AL356119,CH471051,NM_006775,AB067798,AB067799,AB067800,AB067801,AF142418,AF142419,AF142422,AF272349,AI146598,AJ420502,AK027309,AK055085,AK096701,AK295235,AK308784,AL050218,AW022136,AY780788,BC008190,BC012222,BC019917,CR611372,CR626096,DQ323998,AW131362 NP_006766,NP_996737,NP_996736,NP_996735,BAB69681,CAI21651,CAI21652,CAI21653,CAI23022,CAI23023,CAI23024,EAW47554,EAW47555,EAW47556,EAW47557,EAW47559,EAW47560,BAB69496,BAB69497,BAB69498,BAB69499,AAF63413,AAF63414,AAF63417,AAL36980,BAB55032,BAG58228,AAV98358,AAH12222,AAH19917,ABC88600,Q8WY44,Q96PU8,ACE87839,ADQ32331,EAW47558,ACT64517 Hs.510324 DKFZp586I0923|Hqk|QK|QK1|QK3 RNA binding protein HQK|homolog of mouse quaking QKI (KH domain RNA binding protein)|hqkI|protein quaking protein-coding 735639 QPCT glutaminyl-peptide cyclotransferase This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq] 704349,1580863 20383514,19804409,17207965,7999256,18486145,18470930,18072935,17687619,17334644,16135565,15489334,15231017,14680951,14522962,12477932,12196024,11551224,3597387 704349 25797 NM_012413,AC007391,CH471053,AB062487,AK290605,BC015460,BC020456,BC036721,BC047756,BF970452,BI755122,CR596088,CR608310,CR620857,CR623589,X67731,X71125 ADQ33105,NP_036545,AAY14804,EAX00392,EAX00393,EAX00394,EAX00395,EAX00396,EAX00397,BAB93512,BAF83294,AAH36721,AAH47756,CAA47961,CAA50438,Q16769,Q53TR4,Q8NI73 Hs.79033 GCT|QC EC|glutaminyl cyclase|glutaminyl-peptide cyclotransferase|glutaminyl-peptide cyclotransferase (glutaminyl cyclase)|glutaminyl-tRNA cyclotransferase|glutamyl cyclase protein-coding 1350934 QPCTL glutaminyl-peptide cyclotransferase-like 17353931,15342556,12477932,9373149,8125298,15782160,20935630 54814 NM_017659,NM_001163377,AC007191,CH471126,AK000091,AK172764,AK222636,BC011553,BP216511,BU927708,CR602598 NP_060129,NP_001156849,EAW57375,EAW57376,BAA90938,BAD18747,BAD96356,AAH11553,Q9NXS2 Hs.631556 FLJ20084 glutaminyl cyclase-like|glutaminyl-peptide cyclotransferase-like protein protein-coding 1321139 QPRT quinolinate phosphoribosyltransferase This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. [provided by RefSeq] 1580863 9473669,3409840,17868694,19321014,16189514,15489334,12477932,10721107,14704851 23475 NM_014298,AC009086,AC009133,AC023831,CH471238,AK293195,BC005060,BC010033,BC018910,BG748194,BT007231,CR594408,CR595386,CR600977,CR603957,CR608816,D78177 NP_055113,EAW80014,BAG56735,AAH05060,AAH10033,AAH18910,AAP35895,BAA11242,Q15274 Hs.513484 QPRTase QAPRTase|nicotinate-nucleotide pyrophosphorylase|nicotinate-nucleotide pyrophosphorylase (carboxylating)|nicotinate-nucleotide pyrophosphorylase [carboxylating] protein-coding 1606909 QRFP pyroglutamylated RFamide peptide The P518 precursor protein can be processed into several RF (arg-phe)-amide peptides, including P518. RF-amide peptides share a common C-terminal motif and are involved in cell signaling through G protein-coupled receptors (Jiang et al., 2003 [PubMed 12714592]).[supplied by OMIM] 14657341,16899066,15891009,15808908,15489334,12960173,12714592,12477932,16754659,20534693 347148 NM_198180,AL161733,AY438326,AB109625,BC101127,BC101128 NP_937823,CAM45757,AAR24354,BAC98934,AAI01128,AAI01129,P83859,Q495K5,ACE87775,ACT64441 Hs.660704 26RFa|MGC119794|P518|RP11-618A20.5 P518 precursor protein|RF(Arg-Phe)amide family 26 amino acid peptide (P518)|orexigenic neuropeptide QRFP protein-coding 1351393 QRFPR pyroglutamylated RFamide peptide receptor G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 16754659,12960173,16648250,16344560,12714592,12477932,11574155,20534693 84109 NM_198179,AC093816,AC093867,CH471056,AB109629,BC128132,BC128133,BG169612,DA461055,AK309337 NP_937822,EAX05261,EAX05262,BAC98938,AAI28134,Q96P65 Hs.368977 AQ27|GPR103|MGC149217|SP9155 G protein-coupled receptor 103|G-protein coupled receptor 103|OTTHUMP00000219822|QRFP receptor|orexigenic neuropeptide QRFP receptor|pyroglutamylated RFamide peptide receptor protein-coding 1606541 QRICH1 glutamine-rich 1 16713569,15489334,15231748,14702039,12477932 54870 NM_198880,NM_017730,AC135506,AC137630,CH471055,AK000266,AK022524,AK025013,AK074313,AK093259,AK124205,AK292536,AW673597,BC000978,BC098375,BC110855,BC130340,BC130342,BI459089 NP_942581,NP_060200,EAW64948,EAW64949,EAW64950,EAW64951,BAA91042,BAB14076,BAB85047,BAF85225,AAH00978,AAH98375,AAI10856,AAI30341,AAI30343,Q2TAL8,Q9H9Z1,Q9NXG9,ADR83401 Hs.297389 FLJ20259|MGC131838 glutamine-rich protein 1 protein-coding 1604772 QRICH2 glutamine rich 2 17353931,11230166,12477932 84074 NM_032134,AC015801,AC090699,CH471099,AK058102,AL136774,BC131559 NP_115510,EAW89384,EAW89385,BAB71667,CAB66708,AAI31560,Q9H0J4,ACE87533,ACE86846 Hs.252739 DKFZP434P0316|DKFZp434P0316 glutamine-rich protein 2 protein-coding 1343877 QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 1580863 18978678,16344560,14702039,12477932,11230166,9373149,8125298,20877624,19805282 55278 NM_018292,AL390074,CH471051,AK001851,AK022251,AK023509,AK225262,AK225443,AK314694,AL136679,BC006084,BC014389,CR592831,CR598150,CR618052,DA819470 NP_060762,CAH72093,CAH72094,EAW48407,EAW48408,BAA91941,BAB13996,BAB14592,BAG37245,CAB66614,AAH06084,AAH14389,Q9H0R6 Hs.406917 DKFZp564C1278|FLJ10989|FLJ12189|FLJ13447|GatA OTTHUMP00000016922|glutaminyl-tRNA synthase-like protein 1|glutamyl-tRNA(Gln) amidotransferase subunit A homolog protein-coding 1605632 QSER1 glutamine and serine rich 1 14702039,12477932,19772629 79832 NM_001076786,AC107939,AL035400,AL049713,CH471064,AK025577,AK055185,AK095528,AK123858,AK125391,AK125902,AK126023,AL834141,BC013746,BC112935 NP_001070254,EAW68214,BAB15176,BAG54263,BAC86397,AAI12936,Q2KHR3,Q9H6S7 Hs.369368 FLJ21924 glutamine and serine-rich protein 1 protein-coding 1603681 QSK serine/threonine-protein kinase QSK 20936779,21149283,15334068,14976552,16306228,18348280,18266979,18193046,15489334,15134808,14702039,12477932,12168954,10231032,8889549,8889548,20056645,20379614 23387 AP000936,AP003070,AP006216,CH471065,AA044062,AB209327,AI479678,AI765994,AI866497,AK022302,AK122838,AY598338,BC035583,BC063887,BC086858,NM_025164,BC121188,BC128510,BC128511,BF055085,BM127054,BM682365,BQ018415,BQ219303,W90813 NP_079440,EAW67278,EAW67279,BAD92564,BAB14006,BAG53754,AAT06749,AAH35583,AAH63887,AAH86858,AAI21189,AAI28511,AAI28512,Q0IJ40,Q9Y2K2 Hs.167451 FLJ12240|KIAA0999|L19|QSK|SIK3 OTTHUMP00000069593|OTTHUMP00000069594|OTTHUMP00000198139|SIK-3|salt-inducible kinase 3|serine/threonine-protein kinase QSK|serine/threonine-protein kinase SIK3 protein-coding 69035 QSOX1 quiescin Q6 sulfhydryl oxidase 1 This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863 17331072,8396966,10708601,18393449,17944490,16806532,16713569,16710414,15302935,16335952,15489334,14702039,12975309,12477932,12176051,10542195,9878249,19795908,20211621,16712791 5768 NM_002826,NM_001004128,AL390718,CH471067,AB209280,AF361868,AK092177,AK290842,AK290887,AY358941,BC017692,BC100023,BX382719,CB137990,CR597598,CR601148,CR613263,CR619667,L42379,U97276 NP_002817,NP_001004128,CAI14839,CAI14840,EAW91076,EAW91077,BAD92517,AAM00263,BAF83531,BAF83576,AAQ89300,AAH17692,AAI00024,AAA89173,AAC09010,O00391,Q13876,Q5T2X6,Q8TCH8,CAI14838 Hs.518374,Hs.719176 FLJ34858|Q6|QSCN6 hQSOX|sulfhydryl oxidase 1 protein-coding 1316813 QSOX2 quiescin Q6 sulfhydryl oxidase 2 QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM] 737633,1580863 20189936,20881960,15489334,15164053,14702039,14633699,12477932,12176051 737633 169714 NM_181701,AL138781,CH471090,CR392000,AJ318051,AJ420461,AK128077,AK128750,AL834369,BC047604,BQ269870,CR601649 NP_859052,CAI16880,CAI16881,EAW88207,EAW88208,EAW88209,CAM28352,CAC85331,BAC87262,BAG54726,CAD39032,AAH47604,Q6ZRP7 Hs.657864 DKFZp762A2013|QSCN6L1|SOXN neuroblastoma-derived sulfhydryl oxidase|quiescin Q6-like 1|quiescin Q6-like protein 1|sulfhydryl oxidase 2 protein-coding 732681 QTRT1 queuine tRNA-ribosyltransferase 1 tRNA-guanine transglycosylase (TGT; EC 2.4.2.29) synthesizes queuosine (Q), which is found in tRNAs that recognize NAU and NAC codons, encoding tyr, asn, asp, and his. Prokaryotic TGT is a single protein of 43 kD. In contrast, mammalian TGT appears to be a heterodimer consisting of a 60-kD subunit (USP14; MIM 607274) and a 43-kD catalytic subunit (QTRT1) (Deshpande and Katze, 2001 [PubMed 11255023]).[supplied by OMIM] 1580863 11255023,15489334,14702039,12477932,9373149,8125298,16169070,20354154 81890 NM_031209,AC011475,CH471106,AF302783,AF302784,AF302785,AF370379,AK055216,AK057877,AK225173,AK294166,AK314308,BC015350,CR602960,CR614822,CR614899,CT003728 NP_112486,EAW84138,EAW84139,EAW84140,EAW84141,EAW84142,EAW84143,AAG60033,AAG60034,AAQ15215,BAG57488,BAG36960,AAH15350,Q71RF8,Q9BXR0 Hs.631638 FP3235|TGT guanine insertion enzyme|queuine tRNA-ribosyltransferase|tRNA-guanine transglycosylase protein-coding 4888879 QTRT1P1 queuine tRNA-ribosyltransferase 1 pseudogene 1 100420656 AC003014,NG_026873 pseudo 1320734 QTRTD1 queuine tRNA-ribosyltransferase domain containing 1 737633 21044367,14702039,12477932,17207965,20354154 737633 79691 NM_024638,AC092896,CH471052,AK023022,AL832215,BC034559,BC039265,CR457296,CR595228,CR614436,AL833709,AK296938,AK299313 NP_078914,EAW79613,EAW79614,BAB14361,AAH34559,AAH39265,CAG33577,Q9H974,ADQ31752,BAH12458,BAH12998 Hs.477162 FLJ12960 OTTHUMP00000214918|queuine tRNA-ribosyltransferase domain-containing protein 1|queuine tRNA-ribosyltransferase subunit QTRTD1 protein-coding 1603166 R3HCC1 R3H domain and coiled-coil containing 1 20691435,12477932 203069 CR602549,CR605355,CR605793,CR610879,CR617722,CR626128,NM_001136108,AC090197,CH471080,AK293465,AL050297,BC032421,BC050572,BC143822,BC143827,BC143829,BX426634,CR590969,CR591686,CR591817,CR600229 Q9Y3T6,NP_001129580,EAW63629,EAW63630,BAG56960,CAB43396,AAI43823,AAI43830 Hs.458644 DKFZp564N123 R3H and coiled-coil domain-containing protein 1 protein-coding 1316725 R3HDM1 R3H domain containing 1 1580863 19240061,16713569,15570572,15489334,15144186,12477932,7584028,7584026 23518 NM_015361,AC011893,AC016742,CH471058,AK026987,AK127793,AK290015,AK297000,BC001217,BC041093,D21852 NP_056176,AAX88922,AAY14728,EAX11627,EAX11628,BAG54571,BAF82704,BAG59538,AAH01217,AAH41093,BAA04878,Q15032,Q4ZG59,Q53SQ1,Q9BVG5 Hs.412462 FLJ23334|KIAA0029|R3HDM OTTHUMP00000204066|OTTHUMP00000204067|OTTHUMP00000204145|R3H domain (binds single-stranded nucleic acids) containing|R3H domain-containing protein 1 protein-coding 1605089 R3HDM2 R3H domain containing 2 16713569,12477932,10737800,10231032,20884846 22864 AC126614,AC137834,CH471054,AB023219,AF113695,AK293394,BC008143,BC041857,BC104995,BC112226,BC143605,BQ346058,NM_014925,BU603842,CR596895 NP_055740,EAW97008,EAW97009,BAA76846,AAF29588,BAG56903,AAH41857,AAI04996,AAI12227,AAI43606,Q9P1N3,Q9Y2K5 Hs.443673 KIAA1002|PR01365 OTTHUMP00000201860|OTTHUMP00000201862|OTTHUMP00000201865|R3H domain-containing protein 2 protein-coding 1313241 R3HDML R3H domain containing-like 12477932 140902 NM_178491,AL117382,CH471077,BC107048 NP_848586,CAC04190,EAW75928,AAI07049,Q9H3Y0 Hs.580807 MGC129564|dJ881L22.3 R3H domain (binds single-stranded nucleic acids) containing-like|cysteine-rich secretory protein R3HDML|peptidase inhibitor R3HDML protein-coding 735722 RAB10 RAB10, member RAS oncogene family RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM] 2302393,2302395,2302397,2306494 17207965,19008234,16344560,16154996,15855153,15489334,14702039,12578829,12477932,11230166,10931946,9918381,7688123,11773082,17353931,16169070,17215244,20028485,20379614 2302393,2302395,2302397,2306494 10890 NM_016131,AC011742,AC013449,CH471053,AF086917,AF091032,AF106681,AF297660,AF498945,AK023223,AK025136,AL136650,AL517754,BC000896,CR457303,CR606343,CR606383,CR615601,CR618434,CR623312,DA295568 ADQ32395,NP_057215,AAX93140,AAY24262,EAX00710,EAX00711,AAP97147,AAF00045,AAD43034,AAG13413,AAM21093,BAB14474,CAB66585,AAH00896,CAG33584,P61026,Q53SX4,Q53T70,Q9UL28,ACE87249,ACE86567 Hs.467960,Hs.643072 GTP-binding protein RAB10|ras-related GTP-binding protein|ras-related protein Rab-10|ras-related protein rab10 protein-coding 1343833 RAB11A RAB11A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. [provided by RefSeq] 2302395,2302397,2312655,2306494,2312656 11163216,12145319,15229288,19193894,18843107,18701709,18550774,17854769,17538027,17476295,17462998,17426287,17157409,17030804,16730941,16473307,16214890,16189514,16126723,15489334,15304524,15280022,15190120,15188492,15181150,15173169,14702039,14699104,12540381,12477932,12470645,12435603,11994279,11786538,11495908,11481332,11408590,10512627,10464283,10369872,10077598,9719562,9662449,1711847,1704119,15569681,17353931,10747849,12554740,15601896,15837192,16148947,16905101,17007872,17540176,18511905,19009530,19641023,19752198,19797056,20026645,20308558,20357086,19996123,20346379,20395296,20933442,20877624 2302395,2302397,2312655,2306494,2312656 8766 NM_004663,AC084854,CH471082,AF000231,AF498946,AK054930,AK297549,AK298961,AK300008,AK311770,BC013348,BI550703,BT020151,BT020154,CR407669,CR536493,CR606451,X53143,X56740 NP_004654,EAW77752,EAW77753,AAC32887,AAM21094,BAG59943,BAG61057,BAG61825,BAG34713,AAH13348,AAV38953,AAV38956,CAG28597,CAG38732,CAA37300,CAA40064,P62491,ABM83980,ABM87302 Hs.321541 MGC1490|YL8 RAB 11A, member oncogene family|rab-11|ras-related protein Rab-11A protein-coding 68529 RAB11B RAB11B, member RAS oncogene family 1580863 7811277,19244346,16545962,15489334,15342556,14627637,12477932,11495908,11481332,11408590,9373149,20877624,16169070,19060906,20686666,20717956,10942597,8125298 9230 CR625102,CR626143,CR626645,CX787570,D38516,EF560724,X79780,AC136469,CH471139,AF498947,AK225036,AK225642,AK297498,AK312994,BC110081,BP367041,BP396219,BT019535,BT019536,CR536494,CR541691,CR590650,CR592057,CR592281,CR593189,CR593439,CR594452,CR596517,CR597131,CR600179,CR600800,CR605393,CR606224,CR606883,CR609776,CR613165,CR613277,CR615157,CR618647,CR618667,CR620665,CR621845,NM_004218,CR624386,CR593323 ABQ59034,CAA56176,Q15907,Q5U0I1,Q6FHR0,Q6FI42,ACT64349,ACT64350,NP_004209,EAW68925,EAW68926,EAW68927,AAM21095,BAG59912,BAG35831,AAI10082,AAV38342,AAV38343,CAG38733,CAG46492 Hs.626404 H-YPT3|MGC133246 GTP-binding protein YPT3|RAB11B, member of RAS oncogene family|ras-related protein Rab-11B protein-coding 1347457 RAB11FIP1 RAB11 family interacting protein 1 (class I) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP1 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM] 18029348,17353931,19620787,18838556,17081983,16964243,16920206,16216915,16049696,15769254,15489334,15355514,15280022,15181150,15134434,14702039,12477932,11944901,11786538,11495908,12364336,20810886 80223 NM_001002814,NM_025151,AC130304,CH471080,CQ859756,AF368294,AK026177,AK026275,AK090437,AK092296,AK122583,AK124121,AK124422,AK226111,AK291781,AL832155,AL833169,AY280966,AY280967,AY280968,AY280969,AY280970,AY367050,BC001314,BC054881,BC077720,DQ083995,DQ236342 NP_001002814,NP_079427,EAW63347,EAW63348,EAW63349,CAH25928,AAM09571,BAB15424,BAC03418,BAG52524,BAC56924,BAF84470,AAQ18784,AAQ18785,AAQ18786,AAQ18787,AAQ18788,AAR15506,AAH77720,AAY86040,ABB43161,Q307T1,Q4JIW2,Q67C35,Q6WKZ3,Q6WKZ4,Q6WKZ5,Q8NF43 Hs.191179 DKFZp686E2214|FLJ22524|FLJ22622|MGC78448|NOEL1A|RCP|rab11-FIP1 RAB11 coupling protein|Rab effector protein|Rab-interacting recycling protein|rab-coupling protein|rab11 family-interacting protein 1 protein-coding 1344867 RAB11FIP2 RAB11 family interacting protein 2 (class I) 2312655,2312656 18984164,18621683,17626244,16775013,15489334,15324660,15304524,15173169,15004234,12477932,12470645,12393859,12364336,11994279,11944901,11495908,11481332,10231032,8889548,16251358,16905101,20379614 2312655,2312656 22841 NM_014904,AC022395,CH471066,AB023158,AY037299,BC075073,BC075074,BM975322,BX647717,DQ013303 NP_055719,EAW49423,BAA76785,AAK68635,AAH75073,AAH75074,AAY67796,Q3I768,Q7L804 Hs.173656 KIAA0941|Rab11-FIP2|nRip11 RAB11-FIP2 long isoform|rab11 family-interacting protein 2 protein-coding 1353989 RAB11FIP3 RAB11 family interacting protein 3 (class II) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM] 1580863 16148947,17007872,18511905,19327867,20214888,17628206,17394487,17030804,15616553,15601896,15489334,15158446,12800201,12477932,12470645,11913976,11535061,11495908,11157797,10593962,9734811,11481332 9727 NM_014700,NM_001142272,AE006463,AL023881,AL049542,CH471112,Z98882,AB014565,AF395731,AK293644,AK303061,AY130007,BC051360,CR622821,DC395000,DC404361 NP_055515,NP_001135744,AAK61232,CAI95593,CAI95788,EAW85805,EAW85806,EAW85807,EAW85808,EAW85809,EAW85810,CAI95591,BAA31640,AAL12940,BAG57098,BAG64178,AAN05091,AAH51360,O75154 Hs.531642 KIAA0665|Rab11-FIP3 EF hands-containing Rab-interacting protein|FIP3-Rab11|MU-MB-17.148|OTTHUMP00000197173|PAC196A12.1|arfophilin-1|eferin|rab11 family-interacting protein 3|rab11-family interacting protein 3 protein-coding 1348691 RAB11FIP4 RAB11 family interacting protein 4 (class II) 1580863 11495908,15601896,17030804,20379614,17632510,16713569,16148947,15489334,14702039,12696059,12477932,12470645,11468690,11347906,10843809 84440 NM_032932,AC003101,AC135724,CH471147,AB058724,AJ314646,AK055019,AK074060,AK074341,AK097424,AL359563,AL831830,AY169244,BC004515,BC006240,BC047674,BC093914,BC094803,BC101517,BC023618 NP_116321,EAW80265,BAB47450,CAC44535,BAB84886,BAC05045,CAD38543,AAO21970,AAH93914,AAI01518,Q86YS3,Q8TER2 Hs.406788 FLJ00131|KIAA1821|MGC11316|MGC126566|RAB11-FIP4 FIP4-Rab11|OTTHUMP00000163676|arfophilin-2|rab11 family-interacting protein 4 protein-coding 1346029 RAB11FIP5 RAB11 family interacting protein 5 (class I) 20379614,11278501,18957512,18384058,17854769,17081983,15489334,12554740,20717956,15144186,14702039,12684040,12477932,12470645,11495908,11481332,11163216,10545525,10048485,15324660,12364336,20877624 26056 NM_015470,AC010913,AC012366,CH471053,AB020664,AF153085,AF334812,AK023823,AK024727,AL117579,BC035013,BC099902,CR590374 NP_056285,AAX88900,AAY14746,EAW99749,EAW99750,EAW99751,BAA74880,AAF34356,AAK20892,CAB56002,AAH35013,Q2Z1P3,Q53T28,Q9BXF6,Q9UFM0,ABM81917,ABM85094 Hs.24557 DKFZp434H018|GAF1|KIAA0857|RIP11|pp75 gaf-1|gamma-SNAP-associated factor 1|phosphoprotein pp75|rab11 family-interacting protein 5|rab11-FIP5|rab11-interacting protein Rip11 protein-coding 1346694 RAB12 RAB12, member RAS oncogene family 15489334,12477932 201475 NM_001025300,AP001793,CH471113,AK127824,BC050338,BC071600,BC098407 NP_001020471,EAX01616,AAH71600,AAH98407,Q6IQ22 Hs.270074 FLJ45927|MGC104724 putative Ras-related protein Rab-12|ras-related protein Rab-12 protein-coding 733233 RAB13 RAB13, member RAS oncogene family 1580863 8294494,18029348,18779367,17891173,16710414,16381901,15761153,15528189,15489336,15489334,14702039,12477932,11076863,9918381,9712853,9605854,8375503,19885626 5872 AL358472,CH471121,AF498948,AK128675,AK291580,AY423722,BC000799,BC009227,BC073168,BC094846,BT019700,BT019701,CR610750,CR612138,CR614708,X75593,NM_002870 NP_002861,CAI14031,EAW53248,EAW53249,EAW53250,AAM21096,BAF84269,AAS00485,AAH00799,AAH09227,AAH73168,AAH94846,AAV38506,AAV38507,CAA53266,P51153,Q504R6,CAL37529,CAL38030,CAL38143,CAL38342,CAL38614,CAL38685 Hs.151536 GIG4 RAS-associated protein RAB13|cell growth-inhibiting gene 4 protein|growth-inhibiting gene 4 protein|rab13|ras-related protein Rab-13 protein-coding 737104 RAB14 RAB14, member RAS oncogene family RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM] 2302393,2302395,2302397,2306295,2306494 19702578,20534812,15004230,17353931,11256614,16381901,16344560,15761153,15489336,15489334,15164053,14702039,12477932,11790131,11230166,11149929,11076863,10931946,9792283,9110174,8619474,12535645,16034420,16902405 2302393,2302395,2302397,2306295,2306494 51552 NM_016322,AL137068,CH471090,AF052113,AF112206,AF152463,AF203689,AF498949,AK000447,AK023524,AK090889,AL110256,AL162081,AY553875,BC006081,BC013057,CR457394,CR606162,CR615575,DA404780 NP_057406,CAD20124,CAI12361,EAW87487,EAW87488,AAF17194,AAF00150,AAF19400,AAM21097,BAB14598,BAG52243,CAB82414,AAS64573,AAH06081,CAG33675,P61106,CAL38170,CAL38228 Hs.371563,Hs.713585 FBP|RAB-14 F protein-binding protein 1|OTTHUMP00000022009|bA165P4.3 (member RAS oncogene family)|gtpase rab14|ras-related protein Rab-14|small GTP binding protein RAB14 protein-coding 1351715 RAB15 RAB15, member RAS onocogene family 19913121,20628086,18676680,16195351,15489334,15146197,12578829,12508121,12477932,12105226,11697911,10837464,10428799,17207965,19170196,19625176,19692168,19773279,20379614 376267 NM_198686,AL139022,CH471061,BC014511,BC040679,BX248046,BX640825,CN352234,W81100 NP_941959,EAW80893,EAW80894,EAW80895,AAH40679,CAD62353,CAE45901,P59190,Q6MZX6,ADQ32453 Hs.512492 RAB15, member RAS oncogene family|ras-related protein Rab-15 protein-coding 1346493 RAB17 RAB17, member RAS oncogene family 1580863 15342556,20379614,17353931,11256614,16381901,15761153,15489336,15489334,14702039,12477932,11230166,11076863,10329441,9624171,9373149,8486736,8125298,16169070 64284 BP313619,NR_033308,NM_022449,AC104667,CH471063,AK022600,AK225423,AL136645,BC000929,BC007907,BC009827,BC023661,BC050426,BX647412,CR457282,CR533454,CR591120,CR600396,CR606784,CR621894,CR624533,CR626220 NP_071894,AAY24047,EAW71118,EAW71119,EAW71120,BAB14121,CAB66580,AAH00929,AAH07907,AAH09827,AAH50426,CAG33563,CAG38485,Q6FIH2,Q6PJZ0,Q9H0T7,CAL37678 Hs.44278 FLJ12538 OTTHUMP00000202805|ras-related protein Rab-17 protein-coding 1318941 RAB18 RAB18, member RAS oncogene family 1580863 16808905,16381901,16207721,16147880,15914536,15489336,15489334,15164054,14702039,12800201,12477932,11256614,11230166,11076863,10931946,9373149,8889549,8125298,7706395,7566098,16169070,10648831,18349058,12535645,17540176,18664496 22931 NM_021252,AJ277145,AL138920,CH471072,AB209698,AF087860,AF136974,AF137372,AF498950,AF532968,AK001555,AK223153,AL136734,AY574034,BC015014,BT009840,CR533455,CR590751,CR599854,BC029350,AK295443,AK297629,AK299457 NP_067075,CAB86486,CAH70590,CAH70591,CAH70592,EAW86054,EAW86055,BAD92935,AAP97170,AAG49435,AAF61433,AAM21098,AAP85637,BAG50939,BAD96873,CAB66668,AAU08232,AAH15014,AAH29350,AAP88842,CAG38486,Q56UN9,Q59EW3,Q5W0I9,Q5W0J0,Q7Z5D3,Q9NP72,CAL38020,BAH12069,BAH12635,BAH13039 Hs.406799 RAB18LI1 RAB18 small GTPase|ras-related protein Rab-18 protein-coding 1604143 RAB19 RAB19, member RAS oncogene family 12690205,12477932 401409 NM_001008749,AC069335,AC093087,CH236950,CH471070,AF091033,BC140796,BC171745,DN996121,DY655778 NP_001008749,EAL24028,EAL24029,EAW83948,AAF00046,AAI40797,A4D1S5 Hs.583545 RAB19B GTP-binding protein RAB19B|ras-related protein Rab-19 protein-coding 1350604 RAB1A RAB1A, member RAS oncogene family This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq] 2501306,19135528,18363836,18167358,17901050,17684057,16381901,15489336,15489334,14702039,12788069,12656988,12538640,12477932,11739401,11739271,11285137,11256614,11230166,11076863,10903204,9918381,9730828,9341137,8838809,8356066,8294464,7991565,1902553,16189514,11718716,16169070,16473624,16902405,19357319,20176951,20639577 5861 CR536488,CR593530,CR603642,CR606852,CR616184,DC352417,M28209,NM_015543,NM_004161,AC007318,AF398475,CH471053,AF498929,AI768809,AK055927,AK303678,AK315495,AL050268,BC000905,BG704216,BT019528,BT019529,BX571747,CR533479 CAG38727,AAA60240,P62820,Q5U0I6,Q96RD8,CAL37562,ABM85010,ACE87190,ACE86509,CAG38510,NP_056358,NP_004152,AAK94463,EAW99917,EAW99918,EAW99919,EAW99920,EAW99921,EAW99922,EAW99923,EAW99924,EAW99925,AAM21077,BAB71048,BAH14013,BAG37879,CAB43369,AAH00905,AAV38335,AAV38336,CAE11872 Hs.310645 DKFZp564B163|RAB1|YPT1 GTP binding protein Rab1a|OTTHUMP00000202272|OTTHUMP00000202273|RAB1, member RAS oncogene family|Rab GTPase YPT1 homolog|YPT1-related protein|ras-related protein Rab-1A protein-coding 1345480 RAB1B RAB1B, member RAS oncogene family Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM] 1580863 17353931,17474147,11256614,17947549,17429068,16381901,15796781,15694364,15489336,15489334,12802079,12477932,12051767,11306556,11230166,11076863,10493955,9437002,9030196,8836150,7592724,1918138,20164217 81876 NM_030981,AP001107,AF092437,AJ245875,AK292086,AK315333,AL136635,BC028331,BC071169,BG717501,CR533462,CR591273,CR592347,CR594164,CR595400,CR598883,CR599415,CR602885,CR605155,CR612971,CR620997,CR624810,CR625419,U66621 NP_112243,AAP97212,CAC21570,BAF84775,BAG37733,CAB66570,AAH71169,CAG38493,AAC51196,Q6FIG4,Q92927,Q9H0U4,Q9H1C9,CAL38073 Hs.300816 ras-related protein Rab-1B|small GTP-binding protein protein-coding 1604893 RAB1C RAB1C, member RAS oncogene family pseudogene 17474147,9030196 441400 CH471071,NG_005395,AL513165,U66622 EAW58272,AAC51197,Q92928 Hs.651788 pseudo 1315116 RAB20 RAB20, member RAS oncogene family 1580863 18649179,16613320,15489334,14702039,12477932,11697911,7706395,20379614 55647 NM_017817,AL139385,CH471085,AJ272065,AK000436,AK000446,BC026025 NP_060287,CAI17006,EAX09113,CAC81247,BAA91163,BAA91171,AAH26025,Q9NX57,ABM83071,ABM86266 Hs.508720 FLJ20429 ras-related protein Rab-20 protein-coding 1350890 RAB21 RAB21, member RAS oncogene family RAB21 belongs to the RAB family of small GTP-binding proteins that regulate intracellular vesicle targeting (Opdam et al., 2000 [PubMed 10887961]).[supplied by OMIM] 1331374,1580863 11256614,16754960,16381901,15489336,15489334,12477932,11697911,11076863,10887961,9918381,7788527,16034420,17450153,18804435,19745841 1331374 23011 CH471054,AF091035,BC009109,BC021901,BC092475,CR590140,CR600765,CR604873,D42087,NM_014999,AC012018,AC089984 EAW97270,EAW97271,AAF00048,AAH09109,AAH21901,AAH92475,BAA07682,Q96GX3,Q9UL25,CAL38568,NP_055814 Hs.524590 KIAA0118 ras-related protein Rab-21 protein-coding 1323682 RAB22A RAB22A, member RAS oncogene family The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq] 1580863 11870209,16537905,16189514,15761153,15748882,15489334,15181155,14702039,12477932,11780052,10887961,10329441,9918381,19759177 57403 NM_020673,AL035455,AL049985,CH471077,AF091034,AJ276210,AK054767,AK091180,BC007036,BC015710,BC016864,BC042545,BC063457,BI457862,BT007046,CR610918 NP_065724,CAC15020,EAW75496,EAW75497,AAF00047,CAC10538,BAG52298,AAH07036,AAH15710,AAH63457,AAP35695,Q96IY7,Q9UL26 Hs.529044 MGC16770 GTP-binding protein RAB22A|rab-22|ras-related protein Rab-22A protein-coding 1315728 RAB23 RAB23, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580863 11042152,20358613,18559507,18485483,17503333,17373734,15489334,14617350,14612978,14574404,12878157,12477932 51715 NM_183227,NG_012170,AL031321,CH471081,AB025427,AB034244,AF161486,AF498951,AK311123,AK313796,AU280196,NM_016277,AY585189,BC015021,CR621808,CR749371 NP_057361,NP_899050,CAI21564,EAX04476,EAX04477,EAX04478,EAX04479,BAB40309,BAA87324,AAF29101,AAM21099,BAG36532,AAT79492,AAH15021,CAH18224,Q9ULC3,ACE87561,ACE86873 Hs.555016 DKFZp781H0695|HSPC137|MGC8900 RAB family small GTP binding protein RAB 23|ras-related protein Rab-23 protein-coding 1344346 RAB24 RAB24, member RAS oncogene family RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM] 1580863 20877624,20562859,16344560,15489334,14702039,12477932,12323076,10660536,8126105,16034420 53917 NM_130781,AC146507,CH471195,AF087904,AF258583,AK021761,AK308155,AL833898,BC010006,NM_001031677,BC015534,BC021263,BT007268,CR592574,CR595135,CR597078,CR598394,CR598835,CR602575,CR608115,CR613352,CR615395,CR620905,DA058886 NP_001026847,NP_570137,EAW85024,EAW85025,EAW85026,EAW85027,EAW85028,EAW85029,AAP97202,AAG23786,BAB13887,CAD38754,AAH10006,AAH15534,AAH21263,AAP35932,Q8WY67,Q969Q5,Q9HAG2,ABM81962,ABM85141,ACE87226,ACE86545 Hs.16258 ras-related protein Rab-24 protein-coding 1318219 RAB25 RAB25, member RAS oncogene family 1580863 17353931,18029348,17925226,17393986,15761153,15489334,12477932,11697911,11591653,11495908,11481332,11408590,9389793,8360141,15502842,19795443,20197623,17207965 57111 NM_020387,AL355388,CH471121,AF083124,AF274025,BC004416,BC009831,BC033322,CR599507 NP_065120,CAH72638,EAW53003,AAF98238,AAM69362,AAH04416,AAH09831,AAH33322,P57735,ACE87433,ACE86747,ADQ33138 Hs.632469 CATX-8|RAB11C ras-related protein Rab-25 protein-coding 736116 RAB26 RAB26, member RAS oncogene family 1580863 11043516,16696853,15616553,15489334,12578829,12477932,10857477,8889548,20038531,19913121,20628086 25837 AY646153,BC007681,BC066913,CB242472,CR598645,NM_014353,AC005346,AC009065,CH471112,AB027137,AF498952,AK308560,AK309666,AK314110 BAG36803,AAU88191,AAH66913,Q3L6K5,Q9ULW5,NP_055168,EAW85550,EAW85551,EAW85552,BAA84707,AAM21100 Hs.3797 V46133 Ras-related oncogene protein|ras-related protein Rab-26 protein-coding 1354398 RAB27A RAB27A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq] 2311087,1601587,1580863,1600821 9066979,18029348,11266474,18832576,18812475,18768832,18571497,18559336,18403584,18397837,18350256,18337447,18311812,18281284,17352418,17255357,17090228,17081065,16965270,16923811,16880209,16762324,16630545,16278825,16004602,15489334,15059972,14699162,12802062,12643545,12590134,12578829,12531900,12477932,12446441,12189142,12148598,12122117,12107410,12101244,12062444,12058346,12051743,12006666,11980908,11865063,11856727,11773082,11752456,11266473,10931946,10835631,10571040,7592656,2507536,12176990,16169070,14593078,21129771,20370853,15548590,17045265,17237785,18266782,19270261,19704116,19953648,20083228,20237496 2311087,1601587,1600821 5873 NM_183235,NM_183236,NM_004580,NM_183234,NG_009103,AC011912,AC018926,AF154840,AF443871,CH471082,AF125393,AF498953,AK312836,AV661679,BC107680,BC132800,BC136423,BM014705,CA398159,CR457076,CR536496,CR541693,U38654,U57094 ADR82884,NP_899058,NP_899059,NP_004571,NP_899057,AAD47629,AAL39097,EAW77476,EAW77477,EAW77478,EAW77479,AAD43049,AAM21101,BAG35690,AAI07681,AAI32801,AAI36424,CAG33357,CAG38735,CAG46494,AAC50271,AAC51195,P51159,Q6IAS8 Hs.654978 GS2|HsT18676|MGC117246|RAB27|RAM GTP-binding protein Ram|rab-27|ras-related protein Rab-27A protein-coding 732208 RAB27B RAB27B, member RAS oncogene family 1580863 18029348,9066979,18478159,15489334,14699162,12907454,12578829,12477932,12122117,11956164,11856727,11178108,2507536,1445946,11980908,20237496,20379614,20484105 5874 NM_004163,AC007673,AC098848,CH471096,AF329499,AF498954,AK314115,BC027474,U57093 NP_004154,EAW63010,AAK11243,AAM21102,AAH27474,AAC51194,O00194,ABM83356,ABW03319,BAG36807 Hs.25318 C25KG|ras-related protein Rab-27B protein-coding 736462 RAB28 RAB28, member RAS oncogene family This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq] 633759,1580863 17207965,8647132,19026641,17411337,16344560,15489334,12477932,11387043,10966806,20379614 633759 9364 NM_001017979,NM_004249,NM_001159601,AC006226,AC006445,AC020729,CH471069,AF498955,BC018067,BC035054,BQ021120,CR592237,CR597076,CR612152,CR616293,CR621879,CX165950,DA369194,X94703 ADQ32473,NP_001017979,NP_004240,NP_001153073,EAW92711,EAW92712,AAM21103,AAH18067,AAH35054,CAA64364,P51157,Q8WVF3 Hs.656060 MGC41862 OTTHUMP00000217481|ras-related protein Rab-28 protein-coding 68446 RAB2A RAB2A, member RAS oncogene family Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rabs are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking. The mammalian RAB proteins show striking similarities to the S. cerevisiae YPT1 and SEC4 proteins, Ras-related GTP-binding proteins involved in the regulation of secretion.[supplied by OMIM] 2302393,2302395,2302397,2306494 2501306,8910601,18187231,17716866,17081065,16189514,15489334,15485821,14570876,12477932,12376746,11739401,10996854,10512627,9792283,9110174,8619474,3057444,1648736,17207965,16034420,20308991 2302393,2302395,2302397,2306494 5862 NM_002865,AC068389,AC079065,CH471068,AF070629,AF498930,AK297576,AK312344,BC008929,BT019695,CR605346,M28213,X12953,CR624395 ADQ32424,NP_002856,EAW86827,EAW86828,AAC25389,AAM21078,BAG59967,BAG35265,AAH08929,AAV38501,AAA60241,CAA31411,O75546,P61019 Hs.369017 RAB2 OTTHUMP00000165919|RAB2, member RAS oncogene family|rab2, member ras oncogene family|ras-related protein Rab-2A|small GTP binding protein RAB2A protein-coding 1319277 RAB2B RAB2B, member RAS oncogene family Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM] 1580863 15761153,15489334,15203218,14702039,12477932,12376746 84932 NM_032846,NM_001163380,NR_028074,AL161747,CH471078,AF091029,AF468652,AK027730,AK296057,AK300599,AK307349,AK315354,BC020839,BC066366,BG535306,BX647601,CD634472 NP_116235,NP_001156852,EAW66382,EAW66383,EAW66384,AAF00042,AAN86142,BAB55326,BAG58820,BAG62296,BAG37750,AAH20839,AAH66366,CAI46103,Q5HYI5,Q6NZ33,Q8WUD1,Q96K32,Q9UL31,ABM84169,ABM87571 Hs.22399 FLJ14824 GTP-binding protein RAB2B|OTTHUMP00000195135|RAS family, member RAB2B|ras-related protein Rab-2B protein-coding 1319882 RAB30 RAB30, member RAS oncogene family 1580863 9792283,15761153,15489334,12477932,8863739 27314 NM_014488,AP000893,AP001767,CH471076,AF498956,AK291376,AK312323,BC014213,BX641138,CR542106,U57092,AK310082 NP_055303,EAW75078,EAW75079,EAW75080,EAW75081,AAM21104,BAF84065,BAG35245,AAH14213,CAE46061,CAG46903,AAC50774,Q15771,Q6MZH2,ABM83557,ABM86797,ABW03515 Hs.40758 ras-related protein Rab-30 protein-coding 734458 RAB31 RAB31, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM] 1580863 8863739,17952591,17678623,17081983,16344560,15489334,15146197,12477932,11784320,9373149,8889548,8125298,1178432,16169070,19725050,20379614 11031 NM_006868,AC006238,AP000902,CH471113,AF183421,AF234995,AF498957,AI198863,AK223505,AK314809,BC001148,BT020027,BT020028,BU608212,BU944638,CB243279,CK005533,CN429637,CR407659,CR609335,CR623736,DA068356,U57091,U59877 NP_006859,EAX01595,EAX01596,AAG09690,AAG13847,AAM21105,BAD97225,BAG37334,AAH01148,AAV38830,AAV38831,CAG28587,AAC50773,AAB02832,Q13636,Q53EY4,ABM83504,ABM86720 Hs.99528,Hs.727531 Rab22B gtp-binding protein rab0|ras-related protein Rab-22B|ras-related protein Rab-31 protein-coding 1345972 RAB32 RAB32, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB32, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM] 1580863 12535645,19593531,16557577,15489334,14574404,12477932,12186851,11784320,12672969,20877624 10981 NM_006834,AL133539,CH471051,AF498958,AK312202,BC015061,BT020016,U59878,U71127 NP_006825,CAC34968,EAW47833,AAM21106,BAG35135,AAH15061,AAV38819,AAB02833,AAB09599,Q13637,ABM83808,ABM87130 Hs.287714 ras-related protein Rab-32 protein-coding 1344985 RAB33A RAB33A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq] 1580863 7688322,19060904,16189514,16136464,15772651,15489334,14702039,12477932,9712825,9512502 9363 NM_004794,NG_012558,AL139234,CH471107,AF498959,AK094927,BC001157,BC001704,BC009996,BT007038,D14889 NP_004785,CAI42781,EAX11808,AAM21107,AAH01157,AAH09996,AAP35687,BAA03606,Q14088 Hs.654356 MGC1488|RabS10 Small GTP-binding protein S10|ras-related protein Rab-33A protein-coding 1318074 RAB33B RAB33B, member RAS oncogene family 1580863 18448665,15815621,15761153,15489334,12477932,11718716,11256614,11230166,9512502 83452 NM_031296,AC114743,CH471056,AF350420,AK313685,AL136904,BC036064,BC111977 NP_112586,AAY40936,EAX05116,AAL83916,BAG36434,CAB66838,AAH36064,AAI11978,Q5U602,Q9H082 Hs.591679 DKFZp434G099|MGC138182 ras-related protein Rab-33B protein-coding 1312861 RAB34 RAB34, member RAS oncogene family RAB proteins, like RAB34, are small GTPases that regulate vesicle budding, docking, and fusion along endocytosis and exocytosis pathways (Chen et al., 2003 [PubMed 12684051]).[supplied by OMIM] 1580863 18005733,17881736,16473629,16344560,16303743,16138900,15996637,15761153,15489334,14702039,14668488,12684051,12477932,12475955,12446704,1752434,16712791,19641095,19961360 83871 NM_001144943,NM_001142624,NR_024579,NR_024575,NM_031934,NM_001144942,AC010761,CH471159,CQ783588,AF322067,AF327350,AJ277106,AK027312,AK074689,AK297850,AK304633,BC016841,BC066904,BC091510,NM_001142625,BG251677,BI523728,BT006702,CB111417,CB136913,CR596043,CR600820,CR612137,CR612854,CR613380,CR614283,CR620011,CR622817,CX788239,DA070520 NP_001136097,NP_001138415,NP_001136096,NP_114140,NP_001138414,EAW51127,EAW51128,EAW51129,EAW51130,CAF86756,AAK09397,AAL05587,CAC81760,BAB55034,BAC11141,BAG60182,BAG65412,AAH16841,AAH66904,ABM84682,AAP35348,Q6NXT3,Q96PJ7,Q9BZG1,ABM92207,AAH91510 Hs.301853 RAB39|RAH OTTHUMP00000163526|OTTHUMP00000163527|OTTHUMP00000163528|OTTHUMP00000163530|OTTHUMP00000210642|OTTHUMP00000210643|OTTHUMP00000210644|ras-related protein Rab-34|ras-related protein Rab-39|ras-related protein Rah protein-coding 1314936 RAB35 RAB35, member RAS oncogene family 1580863 7811277,16950109,18450757,17081065,16600182,16541075,15489334,14702039,12477932,16169070,20877624,14968112,15342556,19729655,20379614 11021 NM_006861,AC004812,CH471054,CS174348,AF498960,AK001309,AK125543,AK298391,AK300127,AK304620,AK312538,BC015931,BC017753,BM467132,BQ233709,BT020024,CR536486,CR541683,CR622981,CR623183,X79781,AI042456,BP303346,DC349830,DC370610,DC408044,NM_001167606 NP_006852,AAC83182,EAW98163,EAW98164,CAJ34551,AAM21108,BAG60626,BAG61918,BAG65402,BAG35437,AAH15931,AAV38827,CAG38725,CAG46484,CAA56177,Q15286,ABM92203,ABM92220,ABM84676,NP_001161078 Hs.524788 H-ray|RAB1C|RAY GTP-binding protein RAY|ras-related protein Rab-35|ras-related protein rab-1c (GTP-binding protein ray) protein-coding 1347973 RAB36 RAB36, member RAS oncogene family 1580863 9920784,16021519,15489334,15461802,12477932,11076863,10607907,10591208,19961360 9609 NM_004914,AC000029,AC000102,CH471095,AB023061,AF133588,AY336745,BC017436,BC104989,BC104991,BE886845,CR456553,AK296052 NP_004905,EAW59561,EAW59562,BAA75195,AAF02485,AAQ16115,AAI04990,AAI04992,CAG30439,O95755,AAI11853,CAK54584,CAK54883,BAG58816 Hs.369557 ras-related protein Rab-36|small GTP-binding protein Rab36 protein-coding 1312361 RAB37 RAB37, member RAS oncogene family Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM] 737633,1580863 16344560,20031577,15308636,19148500,18687502,16189514,15489334,14702039,12665801,12578829,12477932,10722846 737633 326624 DA164538,NM_001163989,NM_001163990,NM_175738,NM_001006638,AC016888,AC064805,CH471099,AK054846,AK057069,AK098068,AK127073,AK290202,AK296062,AK296172,AK303442,BC016615,BC040547,CR601310 NP_001157461,NP_001157462,NP_783865,NP_001006639,EAW89177,EAW89178,EAW89179,EAW89180,EAW89181,EAW89182,BAG51433,BAG51857,BAC05227,BAG54434,BAF82891,BAH12246,BAH12272,BAH13962,AAH16615,AAH40547,Q8IWA7,Q96AX2 Hs.351413 FLJ30284|FLJ32507 OTTHUMP00000165791|OTTHUMP00000165794|RAB37, member of RAS oncogene family|Rab37-like|ras-related protein Rab-37 protein-coding 734295 RAB38 RAB38, member RAS oncogene family 1580863,1357409 12643545,12477932,11337364,10910072,19010793,18477474,17081065,15761153,15489334,12850305,20103624 1357409 23682 AP001642,AP005436,CH471185,DQ178619,AF136172,AF235022,BC015808,BT009842,CR615812,AL546159,NM_022337 NP_071732,EAW59365,EAW59366,ABA03166,AAP97262,AAG30731,AAH15808,AAP88844,P57729,Q7Z4W7,ABM82052,ABM85231 Hs.591975 NY-MEL-1|rrGTPbp Rab-related GTP-binding protein|melanoma antigen NY-MEL-1|rab38, member of ras oncogene family|ras-related protein Rab-38 protein-coding 1322661 RAB39 RAB39, member RAS oncogene family 1580863 9119394,15489334,12477932,19833722,20379614 54734 NM_017516,AP001024,AP003307,CH471065,AK292969,BC028064,X99962 NP_059986,EAW67100,BAF85658,AAH28064,CAA68227,Q14964 Hs.354906 rab-39|rab-related GTP-binding protein|ras-related protein Rab-39A protein-coding 1354105 RAB39B RAB39B, member RAS oncogene family This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. [provided by RefSeq] 1580863 11256614,18029348,16381901,15772651,15489336,15489334,14702039,12477932,12438742,11076863,11230166,20159109 116442 NM_171998,NG_005114,NG_012626,AL356738,CH471172,AK056209,AL834460,AY052478,BC009714,BX108796 NP_741995,CAI41468,EAW72626,CAD39120,AAL12244,AAH09714,Q96DA2,CAL38722 Hs.632832 MRX72 ras-related protein Rab-39B protein-coding 735498 RAB3A RAB3A, member RAS oncogene family 2311087,1580863 2501306,1648736,11343654,14734538,10859313,18029348,9194562,18559336,17625073,16584842,16099449,15489334,15159548,15057824,15005721,12937130,12590134,12578829,12535645,12477932,12244319,12176990,12051743,11884041,11846002,11809763,11773082,11563859,11516400,11377421,11134008,10574328,10511453,10025402,9341137,9013620,8889548,8706741,8432525,8226995,7991565,7532276,2687157,20029029,12750892,11865063,19546222,19923287,8071310,8294464,8636125,16722236 2311087 5864 NM_002866,AC068499,AF157809,CH471106,AF254795,AF498931,AK289559,AK293467,BC011782,BM717329,DB497194,M28210 NP_002857,AAF67385,AAD46811,EAW84672,EAW84673,EAW84674,AAF67748,AAM21079,BAF82248,BAG56961,AAH11782,AAA60242,P20336,ACE87426,ACE86740 Hs.27744 RAS-associated protein RAB3A|ras-related protein Rab-3A protein-coding 736582 RAB3B RAB3B, member RAS oncogene family 1580863 11741295,8886977,8636125,8175882,1999336,2501306,16710414,15761153,15489334,15159548,12901864,12578829,12477932,11832247,17207965,12535645,16344560,19384079,19717423,20007772,14702039,20807725 5865 NM_002867,AL445685,AL589663,CH471059,AF498932,AK291653,BC005035,M28214,AU119030,AK002107,AK092167 NP_002858,CAI17027,CAH74098,EAX06802,AAM21080,BAF84342,AAH05035,AAA60243,P20337,ADQ32831 Hs.123072 brain antigen RAB3B|rab3b protein|ras-related protein Rab-3B protein-coding 732895 RAB3C RAB3C, member RAS oncogene family 737633,1580863 18029348,19240061,15489334,15159548,12578829,12477932,12296628,12167638,8543030,19717423,20379614 737633 115827 NM_138453,AC008852,AC016642,AC034250,CH471123,AY026936,BC013033 NP_612462,EAW54978,EAW54979,AAK08968,AAH13033,Q96E17 Hs.482173 ras-related protein Rab-3C protein-coding 736647 RAB3D RAB3D, member RAS oncogene family 1580863 20877624,10023084,15489334,15257287,15159548,14566969,12578829,12477932,12192047,11903042,10072586,10022613,9178809,7532276,16344560,20038531 9545 BC035309,NM_004283,AC011472,AC024575,AC098777,CH471106,AF019226,AF081353,AF498933,AK313538,BC007960,BC016471,BQ011121,DA241826,FB775560 NP_004274,EAW84188,EAW84189,EAW84190,AAC72918,AAM21081,BAG36315,AAH16471,O95716,CAV30737 Hs.655274 D2-2|GOV|RAB16|RAD3D Rab3D upregulated with myeloid differentiation|glioblastoma overexpressed|ras-related protein Rab-3D protein-coding 1604828 RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (MIM 609275). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005 [PubMed 15696165]).[supplied by OMIM] 20562859,18029348,19077034,18286824,17567985,17081983,15696165,15489334,14702039,12786944,12477932,10532171,9733780,8249951,7584044,14593078,9030515,10859313,9852129,16344560,16923123 22930 NM_012233,AC017031,AC020602,CH471058,AB449877,AK022494,AK309118,AL096752,BC020303,BC022977,BC036732,BC071602,BC146809,BP872264,D31886,AK056058,BC030992,DA333844,NG_016972,NM_001172435 NP_036365,EAX11637,EAX11638,EAX11639,EAX11640,EAX11641,BAH16620,CAH56411,AAH22977,AAI46810,BAA06684,Q15042,NP_001165906 Hs.306327 DKFZp434A012|KIAA0066|P130|RAB3GAP|RAB3GAP130|WARBM1 OTTHUMP00000206879|RAB3 GTPase-activating protein 130 kDa subunit|rab3 GTPase-activating protein catalytic subunit|rab3-GAP p130 protein-coding 1604372 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in Ca(2+)-dependent exocytosis. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit (RAB3GAP1; MIM 602536) and a 150-kD noncatalytic subunit (RAB3GAP2) (Nagano et al., 1998 [PubMed 9733780]).[supplied by OMIM] 16484223,16344560,9733780,17353931,18849981,18485483,16710414,16532399,15696165,15231747,14702039,12477932,12168954,10048485,8889549,20562859 25782 NG_015837,NM_012414,AC103590,AL445435,CH471100,AB020646,AF004828,AF255648,AK021928,AK027485,AK291234,AL117631,BC036513,BC098383,BC131573,BC146760,BX483077,CR592496,CR614186,DA379077,N93244 NP_036546,CAI15808,EAW93304,BAA74862,AAC35881,AAG44636,BAB13939,BAG51330,BAF83923,CAB56022,AAI46761,Q9H2M9 Hs.654849,Hs.708165 DKFZp434D245|FLJ14579|KIAA0839|RAB3-GAP150|RAB3GAP150|RP11-568G11.1|p150 RGAP-iso|rab3 GTPase-activating protein 150 kDa subunit|rab3 GTPase-activating protein non-catalytic subunit|rab3-GAP p150|rab3-GAP regulatory subunit protein-coding 1354248 RAB3IL1 RAB3A interacting protein (rabin3)-like 1 16189514,12477932,11516400,19060904 5866 NM_013401,AP006260,CH471076,AF084557,BC022239,BC051820,CR615485,CR624851 NP_037533,EAW73979,EAW73980,EAW73981,AAF28399,AAH22239,AAH51820,Q8TBN0,ABM82110,ABM85292 Hs.13759 GRAB guanine nucleotide exchange factor for Rab-3A|guanine nucleotide exchange factor for Rab3A|rab-3A-interacting-like protein 1|rab3A-interacting-like protein 1|rabin3-like 1 protein-coding 732155 RAB3IP RAB3A interacting protein (rabin3) 12007189,16344560,16189514,15489334,14702039,12477932,12221131,9373149,8125298,123217,17207965,11743660,17574030,19060904,7532276 117177 BX537658,CR607211,CR616530,DA211792,NM_175624,NM_175623,NM_175625,NM_001024647,AC025263,CH471054,AJ312896,AJ312897,AJ312898,AJ312899,AJ312900,AJ312901,AK026201,AK027566,AK027671,AK057844,AK123728,AK225441,AK314547,AY685922,BC014553,BC015548,BC059358,NM_022456 Q68K28,Q96QF0,ADQ33002,NP_071901,NP_783323,NP_783322,NP_783324,NP_001019818,EAW97237,EAW97238,EAW97239,EAW97240,EAW97241,EAW97242,CAC59835,CAC59836,CAC59837,CAC59838,CAC59839,CAC59840,BAB15391,BAB55202,BAB55283,AAT94123,AAH15548,AAH59358 Hs.258209 FLJ14660|FLJ22548|MGC71495|RABIN3 SSX2 interacting protein|SSX2-interacting protein|rab-3A-interacting protein|rab3A-interacting protein|rabin 3|rabin-3 protein-coding 1354221 RAB40A RAB40A, member RAS oncogene family 1580863 16923123,15772651,15489334,14702039,12578829,12076535,11773082,11697911,12477932 142684 NM_080879,CH471190,Z69733,AB232637,AF422143,AK056859,BC074854,BC074855,BC113501,BC117232,H24206,AF132748,AL035444,NG_017149 NP_543155,EAW54708,CAI41993,BAF02899,AAL75949,AAL60514,AAH74854,AAH74855,AAI13502,AAI17233,Q8WXH6,ADR82904 Hs.27453,Hs.706904 MGC142061|RAR2|RAR2A|Rar-2 OTTHUMP00000023746|SOCS box containing protein RAR2A|SOCS box-containing protein RAR2A|protein Rar-2|ras-related protein Rab-40A protein-coding 2291808 RAB40AL RAB40A, member RAS oncogene family-like 15772651,15489334,12477932,12145744,12076535 282808 Z95624,BC101169,BC101170,BC101171,BC101172,NM_001031834,NG_017150 NP_001027004,CAB09136,AAI01170,AAI01171,AAI01172,AAI01173,P0C0E4 Hs.449517 MGC119958|MGC119959|MGC119960|MGC119961|RAR2|RLGP Ras like GTPase|SOCS box containing protein RAR2|ras-like GTPase|ras-related protein Rab-40A-like protein-coding 1313826 RAB40B RAB40B, member RAS oncogene family The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq] 1580863 15489334,14702039,12477932,12076535,11697911 10966 U05227,NM_006822,AC024361,CH471099,AB209711,AK095782,AK124376,AL047483,BC018039,BC035814,CR598763,CR604923,CR619045 AAA17031,Q12829,Q59EV0,NP_006813,EAW89815,BAD92948,AAH18039 Hs.484068 FLJ42385|RAR|SEC4L GTP-binding protein homologous to Saccharomyces cerevisiae SEC4|SOCS box-containing protein RAR|protein Rar|ras-related protein Rab-40B protein-coding 1349011 RAB40C RAB40C, member RAS oncogene family 1580863 18485483,18391950,15616553,12477932,12076535,11697911,11157797,16169070,8889548 57799 AY823398,BC001581,BC028696,NM_021168,AE006464,CH471112,Z84479,Z84779,AK000584,BG696681,BG715678,BM545442,BM677091,BQ685517,BX442451,CX783728,NM_001172663,NM_001172664,NM_001172665,NM_001172666,Z98883 AAV83924,AAH28696,Q5PXE8,Q6PIU5,Q96S21,NP_066991,AAK61236,EAW85791,EAW85792,EAW85793,EAW85794,CAB06484,CAM26443,NP_001166134,NP_001166135,NP_001166136,NP_001166137 Hs.459630 RARL|RASL8C RAR (RAS like GTPASE) like|RAR like|RAS-like GTPase|RAS-like, family 8, member C|SOCS box-containing protein RAR3|rar-like protein|ras-like protein family member 8C|ras-related protein Rab-40C protein-coding 1347777 RAB41 RAB41, member RAS oncogene family 16086013,15772651,12477932,11697911 347517 AI126463,NG_021267,AL357752,CH471132,BC117239,BC143888,NM_001032726 NP_001027898,CAI41489,EAX05347,AAI17240,Q5JT25 Hs.276327 OTTHUMP00000217399|RAB41, member RAS homolog family|rab41, member ras homolog family|ras-related protein Rab-41 protein-coding 1604758 RAB42 RAB42, member RAS oncogene family 16710414,15489334,12477932 115273 NM_152304,AL513497,CH471059,AK312176,BC033175,CX788289,NM_001193532 NP_689517,CAI22290,EAX07684,EAX07685,BAG35109,AAH33175,Q8N4Z0,NP_001180461 Hs.652321 MGC45806|RP4-669K10.6 RAB42, member RAS homolog family|putative Ras-related protein Rab-42 protein-coding 1346189 RAB42P RAB42, member RAS oncogene family, pseudogene 11181995 646996 NG_009574,AL137128,CH471061 EAW81413 RAB42|RAB42P pseudo 1603859 RAB43 RAB43, member RAS oncogene family 12477932,17684057,17562788,15489334,15018353,18664496 339122 NM_198490,AC108673,CH471052,AK128345,AK291014,AY166852,BC062319,BC073812,CR596493,CR607147,CR620019,D45418 NP_940892,EAW79283,BAF83703,AAO17291,AAH62319,Q86YS6 Hs.546542 ISY1|MGC90481|RAB11B|RAB41 OTTHUMP00000174306|OTTHUMP00000174307|OTTHUMP00000174308|OTTHUMP00000174309|ras-related protein Rab-41|ras-related protein Rab-43 protein-coding 1604417 RAB43P RAB43 pseudogene 15018353,10737800,12477932 440375 NG_005358,AC012186,AC092368,AL532275,BQ336965,BQ956064 Hs.381132,Hs.722009 RAB41P|RAB43P pseudo 1602152 RAB44 RAB44, member RAS oncogene family 14574404,14702039 401258 XM_001725007,XM_001722068,XM_001722008,CH471081,Z85996,AK125083,DN831165 XP_001725059,XP_001722120,XP_001722060,EAX03908,EAX03909,EAX03910,CAD92808,BAC86047,Q7Z6P3,Q6ZV19 Hs.485258,Hs.722748 FLJ43093|RASD3|RASL13|dJ431A14.3 RAS-like, family 13|RASD family, member 3|ras-related protein Rab-44 protein-coding 1351964 RAB4A RAB4A, member RAS oncogene family 2306268,2302395,2302397,2306494,1580863 2501306,19201859,19126785,18688880,18550774,18227069,16935861,16926431,16413502,16389071,16381901,15907487,15689494,15489336,15489334,15292453,15280022,14617813,12832475,12559036,12477932,11788822,11786538,11256614,11243854,11172003,11076863,11063739,10888662,10698684,10512627,10329441,9524117,9373149,9013719,8356066,8125298,8112321,1999336,1902553,1425574,1117200,20209493,16169070,20943774,123234,12535645,16034420,17786215,19302266,19369423,19797056,20534812 2306268,2302395,2302397,2306494 5867 NM_004578,AL117350,AL162595,CH471098,AF498934,AK223009,AK313807,AY585832,BC002438,BC004309,CR602754,CR604213,CR604401,CR605031,CR615332,CR617877,M28211 NP_004569,CAI22870,CAI19037,EAW69889,EAW69890,EAW69891,EAW69892,EAW69893,EAW69894,EAW69895,AAM21082,BAD96729,BAG36543,AAT91347,AAH02438,AAH04309,AAA60244,P20338,Q53GC2,CAL37818,CAL38462,ABM83562,ABM86800 Hs.296169 HRES-1/RAB4|RAB4 Oncogene RAB4|RAB4, member RAS oncogene family|ras-related protein Rab-4A 2299934,2299935 PRSTS333_H,PRSTS334_H protein-coding 733928 RAB4B RAB4B, member RAS oncogene family 15498874,15489334,12477932,10329441,12450215,19590752,17207965,20877624 53916 NM_016154,AC008537,CH471126,AF165522,AF217985,AF498935,AK024845,BC033081,BC046927 NP_057238,EAW57001,EAW57005,EAW57006,AAD45923,AAG17228,AAM21083,AAH33081,AAH46927,P61018,Q6PIK3,ACE87724,ACE87040,ADQ32114 Hs.631539 FLJ78649|MGC52123 ras-related GTP-binding protein 4b|ras-related gtp-binding protein 4b|ras-related protein Rab-4B|small GTP binding protein RAB4B protein-coding 1342715 RAB5A RAB5A, member RAS oncogene family 2302395,2306494,1580863 20457610,11682489,11536198,11099046,11076863,11062261,10818110,10722846,10512627,10491193,10329441,9730828,9045618,8831575,8294464,7991565,1999336,1516130,11788822,11733506,11718716,9524117,11493665,12147258,12832475,14665628,20472552,16890161,19126785,19118546,19032933,18982021,18974049,18957427,18725540,18005733,17611268,17581628,17524504,17473071,17301152,17301141,17173037,17081065,16554017,16381901,15782196,15489336,15489334,15388334,15328530,15078902,15023538,15014045,14669515,14644159,14617813,14600265,12972505,12761223,12668728,12612085,12477932,12433916,12432064,12359748,12034881,11884531,11792815,11703925,2501306,9697774,15016378,14613930,8521472,19372461,19913121,20412119,20628086,20558162,16754960,15377662,15378032,16034420,16902405,17353931,17403676,19656886,19723633,19759177,19819222,19830447,19923319,20376209 2302395,2306494 5868 CR536492,NM_004162,AC097635,CH471055,AF464088,AF498936,AK295992,AK309287,AK312618,BC001267,BC018288,BJ991078,CR597533,CR625175,DC330362,M28215 NP_004153,EAW64301,EAW64302,EAW64303,AAO15677,AAM21084,BAG58767,BAG35504,AAH01267,AAH18288,CAG38731,AAA60245,P20339,Q6FI44,CAL37675,CAL37879,ABM82716,ABM85898 Hs.475663 RAB5 OTTHUMP00000207855|RAS-associated protein RAB5A|ras-related protein Rab-5A protein-coding 1315136 RAB5B RAB5B, member RAS oncogene family 10491193,1541686,11256614,18445495,18198356,17927960,17081065,16381901,15489336,15489334,12972505,12493736,12477932,11733506,11703925,11230166,11076863,10403367,9918381,8666383,7789520,10329441,12535645,19723633,20526340 5869 NM_002868,AC034102,CH471054,AF267863,AF498937,AK292597,AK296517,AK307468,BC032740,BC040143,BC050558,BC056422,BC065298,BX537408,BX647808,CR536482,CR541690,CR594499,CR597002,CR614791,CR621175,X54871 NP_002859,EAW96862,EAW96863,EAW96864,AAG44732,AAM21085,BAF85286,BAG59149,AAH32740,AAH40143,AAH50558,AAH56422,AAH65298,CAD97650,CAG38721,CAG46491,CAA38653,P61020,Q6FI54,Q9H2I5,CAL38406 Hs.567328 ras-related protein Rab-5B protein-coding 1316083 RAB5C RAB5C, member RAS oncogene family 1580863 8646882,18029348,17081065,12493736,12477932,10768959,10329441,9852039,7951316,17353931,12972505,11733506 5878 NM_004583,NM_201434,AC003104,AC099811,AC105024,CH471152,AF141304,AF498938,AK310234,AL553867,BC106039,BC114439,BM424166,BM550607,BT019484,CR541901,CR591636,CR591906,CR595237,CR595680,CR599091,CR600279,CR600565,CR601486,CR603551,CR607771,CR607787,CR608029,CR611639,CR612169,CR612483,CR613867,CR615479,CR617757,CR617879,CR620573,CR620653,CR621567,CR622103,CR623581,CR624854,CR625174,CR625641,CR626803,U11293,U18420 NP_004574,NP_958842,EAW60805,EAW60806,EAW60807,EAW60808,AAF66594,AAM21086,AAI06040,AAI14440,AAV38291,CAG46699,AAA74081,AAB08927,P51148,ACE87452,ACE86766 Hs.650382 MGC117217|MGC138857|RAB5CL|RABL L1880|RAB, member of RAS oncogene family-like|RAB5C, member of RAS oncogene family|RAB5L|ras-related protein Rab-5C protein-coding 1320484 RAB6A RAB6A, member RAS oncogene family 1580863 8356066,8294464,8175798,8125298,2112230,1999336,11718716,20562865,2501306,12391317,11121396,15229288,18044744,17716866,17699596,17681140,17573808,16683916,16536738,16473624,16395330,16381901,16332443,16189514,15878329,15747776,15489336,15489334,15483056,15128430,14702039,12738866,12477932,12447383,12401177,12051743,11929610,11230166,11076863,11071909,11054569,10996854,10329441,10209123,10202141,9438855,9373149,9110174,8889548,8619474,16902405,18243103,19141279,19632984,19703403 5870 NM_198896,NM_002869,AP002770,AP002993,CH471076,AF052130,AF091030,AF091031,AF119836,AF130122,AF130986,AF198616,AF498939,AF498941,AK057157,AK223551,AK289748,AK290132,AK299639,AK301534,AK309311,BC003617,BC034996,BC068486,BC096818,BI545554,BI552973,BQ422263,BT019698,BU685989,CB067721,CB989138,CR541984,CR625610,DQ437503,M28212 NP_942599,NP_002860,EAW74907,EAW74908,EAW74909,EAW74910,EAW74911,EAW74912,AAF00043,AAF00044,AAF23593,AAD27707,AAD25535,AAF73841,AAM21087,AAM21089,BAB71371,BAD97271,BAF82437,BAF82821,BAH13085,BAH13508,AAH03617,AAH68486,AAH96818,AAV38504,CAG46781,ABD93919,AAA60246,P20340,Q1W5D8,Q53ET8,Q6FGX3,Q9UL29,Q9UL30,CAL37813,CAL38456,CAL38606,CAL38679,ACE87797,ACT64395 Hs.503222,Hs.535586,Hs.707804 RAB6|RAB6A'|RAB6B GTP-binding protein RAB6A'|GTP-binding protein RAB6B|Oncogene RAB6|RAB6, member RAS oncogene family|Rab GTPase|Rab6A variant 3|rab-6|ras-related protein Rab-6A protein-coding 1320580 RAB6B RAB6B, member RAS oncogene family 1580863 10893188,18044744,17707369,16790928,16344560,15489334,14702039,12477932,9030196,11929610,15761153,17474147,20379614 51560 NM_016577,AC080128,CH471052,AB073348,AF166492,AF498940,AK055102,AK312378,BC002510,BC036864,BC063556,BC078662,BT007263,DA221889,U66623,AK295451 NP_057661,EAW79158,EAW79159,AAF61637,AAM21088,BAG35296,AAH02510,AAH78662,AAP35927,AAC51198,Q6AZ91,Q9NRW1,ACE87057,BAH12073 Hs.707804 OTTHUMP00000216372|ras-related protein Rab-6B|small GTP-binding protein|small GTPase RAB6B protein-coding 1354322 RAB6C RAB6C, member RAS oncogene family 1580863 10455022,11054569,18992151,17426708,16267028,15489334,14702039,12477932,12007787,11230166,9847074,19851296,20064528,20198315 84084 NM_032144,AC079776,AF124200,CH471058,CH471103,AF309646,AK055504,AL136727,BC120998,BC120999,CR533469 NP_115520,AAY15045,AAF28422,EAX11700,EAW95362,AAN39685,CAB66661,AAI21000,CAG38500,Q9H0N0 Hs.591552 WTH3 OTTHUMP00000203985|rab6-like protein WTH3|ras-related protein Rab-6C protein-coding 1351789 RAB7A RAB7A, member RAS oncogene family RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq] 1580863 16925951,17540176,19956673,20028791,20363736,20472552,8954989,17353931,2115402,18029348,15078902,19651702,19580780,19564404,19392663,19372461,18974300,18955491,18501189,18272684,18039930,17625594,17081065,16965270,16631113,16396496,16344560,16282324,16176980,15996637,15933719,15681833,15592455,15489334,15455439,15340014,15186776,15099588,14702039,14668488,14644159,12972561,12944476,12850305,12643545,12576024,12545426,12477932,12071695,12054610,12034881,11675392,11591706,11179213,11141079,10679007,10491170,10329441,9918381,9792283,9585432,9563513,9428630,9373149,9126495,8910576,8702787,8125298,11448994,15809346,20974968 7879 NM_004637,NG_008070,AC023598,AC079945,AC117508,AC139617,AF050175,CH471052,CQ766813,AF498942,AK000826,AK026136,AK094449,AK225177,AK225691,AK290721,AK298344,AK308934,AL162009,AU122058,BC008721,BC013728,BX537775,CA748697,CR619040,CR619444,U44104 NP_004628,AAD02565,EAW79302,EAW79304,CAF33077,AAM21090,BAA91390,BAF83410,BAG60591,AAH08721,AAH13728,CAD97836,AAA86640,P51149 Hs.15738,Hs.728150 FLJ20819|PRO2706|RAB7 OTTHUMP00000216578|OTTHUMP00000216579|OTTHUMP00000216583|RAB7, member RAS oncogene family|Ras-associated protein RAB7|rab7, member ras oncogene family|ras-related protein Rab-7a protein-coding 1346465 RAB7B RAB7B, member RAS oncogene family 1580863 20375062,16344560,15489334,15144907,14702039,12477932,8889548 338382 NM_177403,NM_001164522,CH471067,AK122657,AK127140,AY094596,BC007382,BC017092,BI757251,BX364514,DA966224,BM671066 NP_796377,NP_001157994,EAW91589,EAW91590,EAW91591,AAM22519,AAH17092,Q96AH8 Hs.534612 MGC16212|MGC9726|RAB7 Ras-related protein Rab-7|ras-related protein Rab-7b protein-coding 736472 RAB7L1 RAB7, member RAS oncogene family-like 1 1580863 9284931,15231747,16344560,15489334,14720509,12477932,9373149,8125298,19915576,20683486 8934 NM_001135664,NM_003929,NM_001135662,AC119673,CH471067,AK223514,AK303879,AK308359,AK311085,AK313000,BC002585,BT019540,BX647960,CF528995,CR542010,D84488,NM_001135663,DA284582,DA377295,DC314882,DC365059 NP_001129135,NP_001129136,NP_003920,NP_001129134,EAW91580,EAW91581,BAD97234,BAG64815,BAG35836,AAH02585,AAV38347,CAG46807,BAA22160,O14966,Q53EX5,Q6FGU7,ABM82843,ABM87837,ABW03455 Hs.115325 DKFZp686P1051|RAB7L OTTHUMP00000034234|rab-7-like protein 1|ras-related protein Rab-7L1 protein-coding 1354512 RAB8A RAB8A, member RAS oncogene family The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq] 2302393,2306295,2302395,2302397,2306494 20424170,17353931,17574030,19304576,18772192,18724065,18714005,17646400,17597763,17507647,17332756,17081983,17050734,15489334,12639940,12578829,12477932,12221131,11773082,11137014,10512627,9918381,9677305,9226381,8643544,8408203,8375503,8294494,2564840,1886711,123217,12590134,12176990,16169070,15837803,16473576,16541104,16902405,19641326,20237496,20308558,20631154,20937822 2302393,2306295,2302395,2302397,2306494 4218 CR612819,AC008894,CH471106,S53268,AB209767,AF498943,AK025165,AK293676,BC002977,BT007184,BU940750,CR536583,CR542274,CR590930,CR594350,CR597154,NM_005370,CR615093,CR625894,X56741 NP_005361,EAW84526,EAW84527,AAB19681,BAD93004,AAM21091,BAG57118,AAH02977,AAP35848,CAG38820,CAG47070,CAA40065,P61006,Q59EP4,ABM83449,ABM86661 Hs.642874,Hs.709846 MEL|RAB8 mel transforming oncogene (RAB8 homolog)|mel transforming oncogene (derived from cell line NK14)|mel transforming oncogene (derived from cell line NK14)- RAB8 homolog|oncogene c-mel|ras-associated protein RAB8|ras-related protein Rab-8A protein-coding 1350755 RAB8B RAB8B, member RAS oncogene family 737633,2302397,1580863 9030196,18772196,15489334,14702039,12639940,12477932,12221131,10889189,8799816,17474147,20877624,17207965 737633,2302397 51762 NM_016530,AC016207,CH471082,AB038995,AK001111,AK095444,AK297598,AL133607,AL833365,BC020654,BG721755,U66624 NP_057614,EAW77641,EAW77642,BAA92249,BAG50856,BAG53055,BAG59983,CAI46143,AAH20654,AAC51199,Q92930,ADQ32276 Hs.389733 FLJ38125 RAB-8b protein|ras-related protein Rab-8B protein-coding 1350613 RAB9A RAB9A, member RAS oncogene family 1580863 9126495,15078902,19400954,18681838,17081983,16769818,16644737,15489334,15263003,12576506,12477932,12032303,11827983,11707390,11485202,10512627,9792283,9230071,8389620,7744738,15809346,15456905,11359012,20346379,16344560,18243103,19490898,19684018,20048159 9367 NM_004251,AC003037,AC079383,CH471074,AF498944,AK290505,BC017265,CR450362,CR612058,U44103,CF528703,DA141710,NM_001195328 NP_004242,EAW98826,EAW98827,EAW98828,AAM21092,BAF83194,AAH17265,CAG29358,AAC51200,P51151,ABM83750,ABM87069,NP_001182257 Hs.495704 RAB9 RAB9, member RAS oncogene family|ras-related protein Rab-9A protein-coding 3207435 RAB9AP1 RAB9A, member RAS oncogene family pseudogene 1 100287200 NG_004755,AC016752 pseudo 3129513 RAB9AP2 RAB9B, member RAS oncogene family pseudogene 2 100287542 AC010682,NG_004755 pseudo 3129499 RAB9AP3 RAB9B, member RAS oncogene family pseudogene 3 100287577 AC007965,NG_004755 pseudo 2923057 RAB9AP4 RAB9B, member RAS oncogene family pseudogene 4 100288397 AC022486 pseudo 3207433 RAB9AP5 RAB9B, member RAS oncogene family pseudogene 5 100287234 NG_004755,AC073893 pseudo 1353231 RAB9B RAB9B, member RAS oncogene family 1580863 19490898,15772651,15489334,12477932,11043518,12051767,16204133,16344560 51209 NM_016370,AL139228,CH471190,AB036693,AK313425,BC041336,BC070069,BC093756,BC093758,DA501604,NG_016452 NP_057454,CAB76967,EAW54689,BAA89542,BAG36217,AAH93756,AAH93758,Q9NP90 Hs.522736 RAB9L|Rab-9L RAB9-like protein|rab-9-like protein|ras-related protein Rab-9B protein-coding 1343252 RAB9P1 RAB9, member RAS oncogene family, pseudogene 1 9126495 9366 NR_000039,AC091987,U44105 Hs.158296 RAB9P1 pseudo 736141 RABAC1 Rab acceptor 1 (prenylated) 1580863 19913121,20628086,16930546,16917502,16481131,16189514,15489334,14574414,12477932,11520070,11335720,11096102,10751420,10707984,10329441,9341137,15914857,11739697,16169070,14604818,19060904 10567 NM_006423,AC010616,CH471126,AF112202,AF112996,AI376198,AJ133534,BC008950,BT019964,CF242972,CR457214,CR542116,CR591641,CR612417,DB454056 NP_006414,EAW57086,EAW57087,EAW57088,AAF17190,AAP97229,CAB43107,AAH08950,AAV38767,CAG33495,CAG46913,Q9UI14 Hs.11417 PRA1|PRAF1|YIP3 PRA1 domain family 1|PRA1 family protein 1|prenylated Rab acceptor 1|prenylated Rab acceptor protein 1 protein-coding 1346664 RABEP1 rabaptin, RAB GTPase binding effector protein 1 1580863 18029348,15378032,15457209,19500109,12505986,15143060,17353931,8521472,16407276,16344560,15324660,12477932,11788822,11718716,11387476,11129044,10747088,10698684,10608812,9742146,9524117,9045618,10458612,12042876 9135 NM_001083585,AC004148,AC015727,AC087500,CH471108,AA873800,AF098638,AK297535,AK310932,AK314183,AL050211,AL120839,AL157499,BC018742,BC032435,NM_004703,BC065242,BI666786,BX103338,CR624657,DB169027,X77723,X91141,BC041700 NP_004694,NP_001077054,EAW90343,EAW90344,EAW90345,AAC70781,BAG59936,BAG36864,AAH32435,AAH41700,CAA62580,Q05BX6,Q15276 Hs.592121 RAB5EP|RABPT5 neurocrescin|rab GTPase-binding effector protein 1|rabaptin-4|rabaptin-5|rabaptin-5alpha|renal carcinoma antigen NY-REN-17 protein-coding 1344154 RABEP2 rabaptin, RAB GTPase binding effector protein 2 737633,1580863 17254320,17205062,15489334,14702039,12477932,9524116 737633 79874 NM_024816,AC109460,CH471267,AK026935,AK092299,BC027584,BC046118,BC058900,AK295229 NP_079092,EAW52007,BAB15594,BAG52526,AAH27584,AAH58900,Q49AT6,Q9H5N1,BAG58222 Hs.555978 FLJ23282|FRA Rabaptin-5 beta|rab GTPase-binding effector protein 2|rabaptin-5beta protein-coding 1604052 RABEPK Rab9 effector protein with kelch motifs 9230071,16769818,15489334,15164053,14530284,12477932,18029348,20379614 10244 NM_005833,AL354710,AL445930,CH471090,AK290768,AL832249,BC000503,BC047023,BC053541,CR456837,BC065725,CR541851,CR590651,CR591445,CR600864,CR607227,CR608411,CR616433,CR616448,CR624302,Z97074,CX758286,NM_001174152,NM_001174153 NP_005824,CAI13680,CAI13681,EAW87614,EAW87615,EAW87616,EAW87617,EAW87618,EAW87619,BAF83457,CAH10393,AAH00503,AAH47023,AAH53541,AAH65725,CAG33118,CAG46649,CAB09808,Q5T1S4,Q7Z6M1,ABM83178,ABM86379,CAI13679,CAQ08743,NP_001167623,NP_001167624 Hs.19012 DKFZp686P1077|RAB9P40|bA65N13.1|p40 40 kDa Rab9 effector protein|Rab9 effector p40|rab9 effector protein with kelch motifs protein-coding 1312283 RABGAP1 RAB GTPase activating protein 1 737633,1580863 10202141,19077034,10893188,12477932,11071909,17124247,20379614,14702039,20562859 737633 23637 AC007066,AL358946,AL365338,CH471090,AA948302,AB449897,AF088073,AF161357,AJ011679,AK022408,AK131449,AK294531,AL050195,NM_012197,BC020609,BC054492,BG622097 NP_036329,CAH70298,EAW87554,EAW87555,EAW87556,EAW87557,BAH16640,AAF28917,CAB40267,BAD18594,BAH11800,AAH20609,AAH54492,Q9Y3P9,CAB43313 Hs.271341 DKFZp586D2123|GAPCENA|RP11-123N4.2|TBC1D11 GAP and centrosome-associated protein|Rab6 GTPase activating protein, GAPCenA|TBC1 domain family, member 11|rab GTPase-activating protein 1|rab6 GTPase activating protein (GAP and centrosome-associated)|rab6 GTPase-activating protein GAPCenA protein-coding 1347519 RABGAP1L RAB GTPase activating protein 1-like 19077034,16923123,15367492,14702039,12477932,11329013,11238933,10585558,9455484,20562859,19851296,20198315,20379614,20508983 9910 AL022171,AL022400,AL031278,AL031286,AL136377,AL161671,NM_014857,NM_001035230,AL008735,AL021069,AL591108,CH471067,Z99127,AB007940,AB019490,AB019491,AB019492,AB019493,AB449904,AF279778,AK074409,AK095838,AL035303,AL049701,AL049702,AL157958,AY364260,BC012094,BC018630,BC041888,BC062541,BG193682,CR627374 CAI23486,CAI20382,CAI20383,CAI20384,CAI22875,CAI22876,CAI22877,CAI22878,CAI22380,CAI22381,CAI22382,CAI22932,CAI22933,CAI22934,CAI22935,CAI16277,CAI16278,CAI23485,NP_055672,NP_001030307,CAI16281,CAH70225,CAI16279,EAW90978,EAW90979,CAI18933,CAI16280,CAI18934,CAI18935,CAI18936,CAI18937,BAA32316,BAA77331,BAA77332,BAA77333,BAA77334,BAH16647,BAC04635,CAA22908,CAB41265,CAB41266,CAB76100,AAQ76819,AAH12094,AAH18630,AAH41888,CAH10472,Q5R372,Q6AI42,Q9UEL5,Q9Y3L8,Q9Y6Y7 Hs.585378 DKFZp686E1450|HHL|RP1-102G20.1|TBC1D18 OTTHUMP00000032853|TBC1 domain family, member 18|expressed in hematopoietic cells, heart, liver (HLL)|rab GTPase-activating protein 1-like protein-coding 1316404 RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1 RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM] 1302425,1580863 16407276,12853948,12505986,12477932,11452015,11098082,9373149,9323142,8125298,15324660,11788822,16189514,16499958,17353931,18160707,17450153,17341663,16344560,15489334,15339665,14702039,11718716,15143060,15231748,20379614,20655225 1302425 27342 NM_014504,AC027644,CH471140,AI061350,AJ250042,AK001702,AK056864,AK127790,AK223329,AK290678,AK303006,AW196783,BC015330,BM310029,BT007107,CD366530,DA196847,DQ230533,DQ230534,DQ230535 NP_055319,AAQ93362,EAX07913,EAX07914,EAX07915,EAX07916,CAB57359,BAG50963,BAD97049,BAF83367,BAG64139,AAH15330,AAP35771,ABA64473,ABA64474,ABA64475,Q3HKR1,Q9UJ41 Hs.530053 FLJ32302|RABEX5|rabex-5 OTTHUMP00000159944|OTTHUMP00000210543|OTTHUMP00000210544|RAP1|rab5 GDP/GTP exchange factor|rabaptin-5-associated exchange factor for Rab5 protein-coding 1345525 RABGGTA Rab geranylgeranyltransferase, alpha subunit 1580863 2018975,8380507,16344560,15489334,15188402,12620235,12535645,12477932,12107412,12071695,9196026,8954794,8505342,7991565,20403997 5875 NM_182836,NM_004581,AL096870,CH471078,AK291347,AK292613,AK303247,AK308715,AL547259,AU125148,BC003093,CB995791,CD370056,CD672493,CR541797,CR602211,CR606499,CR607792,CR608269,CR608965,CR612475,CR616135,CR621196,CR621414,CR625243,CR626838,Y08200 NP_878256,NP_004572,EAW66041,EAW66042,EAW66043,EAW66044,EAW66045,EAW66046,BAF84036,BAF85302,BAG64331,AAH03093,CAG46596,CAA69382,Q6FHF7,Q92696 Hs.377992 PTAR3 Rab GG transferase alpha|Rab GGTase alpha|geranylgeranyl transferase type II subunit alpha|geranylgeranyl transferase type-2 subunit alpha|protein prenyltransferase alpha subunit repeat containing 3|rab geranyl-geranyltransferase subunit alpha|rab geranylgeranyltransferase subunit alpha protein-coding 736470 RABGGTB Rab geranylgeranyltransferase, beta subunit 1580863 12620389,8380507,17081983,15489334,14702039,12802062,12620235,12535645,12477932,12071695,11675392,11591706,11447212,11141079,10491170,9719562,9677305,8954794,8706741,8505342,8175798,7991565,1598901,20379614,20403997,546546 5876 NM_004582,AL357314,CH471059,AB209023,AK128861,AK293057,BC020790,BC035873,CR456941,CR594245,U49245,X98001,Y08201 NP_004573,CAI22392,CAI22393,EAX06394,EAX06395,EAX06396,EAX06397,EAX06398,BAD92260,BAF85746,AAH20790,CAG33222,AAA91473,CAA66638,CAA69383,P53611,Q59GT6,Q6IB63 Hs.78948 GGTB GGTase-II-beta|geranylgeranyl transferase type II subunit beta|geranylgeranyl transferase type-2 subunit beta|rab GG transferase beta|rab GGTase beta|rab geranyl-geranyltransferase subunit beta|rab geranylgeranyltransferase subunit beta|type II protein geranyl-geranyltransferase subunit beta protein-coding 1344362 RABIF RAB interacting factor The Sec4/Rab-related small GTP-binding proteins are involved in the regulation of intracellular vesicular transport. Mss4 stimulates GTP-GDP exchange in Sec4 and Rab and binds to a subset of genetically related Rab proteins.[supplied by OMIM] 1580863 7619808,9441742,16169070,15489334,12477932,12105226,10094488,9373149,9013620,8125298,7651540,12788069,16541104,19536175 5877 NM_002871,AC098934,CH471067,AK223538,AK311900,BC018488,BC037392,BT007133,CR593497,S78873,U74324 NP_002862,EAW91443,BAD97258,BAG34841,AAH18488,AAH37392,AAP35797,AAB34955,AAB18264,P47224,Q53EV1 Hs.90875 MSS4|RASGFR3|RASGRF3 Ras-specific guanine-releasing factor 3|guanine nucleotide exchange factor MSS4|mammalian suppressor of SEC4|rab-interacting factor protein-coding 1315545 RABL2A RAB, member of RAS oncogene family-like 2A This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Two alternatively spliced transcript variants have been identified, both encoding the same protein. [provided by RefSeq] 1580863 10444334,15461802,15815621,14702039,12477932,8889548,20138207 11159 NM_013412,NM_007082,AL078621,AF095350,AF095351,AK092971,AK289496,AL137649,BC062578,BC111008,BC126129,BC144050,BC144052,BU728800,CR456554,CR624145 NP_038198,NP_009013,CAB81644,CAB81645,AAD51377,AAD51378,BAF82185,AAI11009,AAI26130,AAI44051,AAI44053,CAG30440,A0AUY0,Q2TAB6,Q6IC14,Q9UBK7,CAX11906,CAX11907,CAX11908,CAX11909 Hs.446425 FLJ78724|MGC117180 OTTHUMP00000203788|OTTHUMP00000203792|OTTHUMP00000203793|rab-like protein 2A protein-coding 1353591 RABL2B RAB, member of RAS oncogene family-like 2B The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 10444334,16189514,15489334,15461802,14702039,12477932,10591208,20138207 11158 NM_007081,NM_001130919,NM_001130920,NM_001130921,NM_001130922,NM_001130923,AC002055,AF095352,AI701071,AK094341,AK308268,AK313442,BC014879,BC020495,BC024281,BC040495,BC064551,BC075856,BG177165,BT020037,BX421088,NM_001003789,BX432293,CR617149,CR621508 NP_001003789,NP_009012,NP_001124391,NP_001124392,NP_001124393,NP_001124394,NP_001124395,AAD51379,AAH14879,AAH24281,AAV38840,Q9UNT1,CAK54585,CAK54884,ABM83286,ABM86493 Hs.584862 FLJ93981|FLJ98216 OTTHUMP00000196482|rab-like protein 2B protein-coding 1315050 RABL3 RAB, member of RAS oncogene family-like 3 737633 20596630,12477932 737633 285282 NM_173825,AC117472,AC133474,CH471052,AK025772,AK293085,BC020832,BX647559,BX647593,BX647664,CR595408,CR619977 NP_776186,EAW79520,EAW79521,BAF85774,AAH20832,CAI46095,CAI46064,CAI46059,Q5HYI8 Hs.444360 MGC23920 OTTHUMP00000216151|rab-like protein 3 protein-coding 1318628 RABL4 RAB, member of RAS oncogene family-like 4 This gene encodes a putative GTP-binding protein similar to RAY/RAB1C. The protein is ras-related, but the function is unknown. [provided by RefSeq] 1580863 15489334,15461802,12529303,12477932,10591208,16189514,17276912,8889548 11020 NM_006860,CH471095,Z80897,AB209424,AK307105,AK307382,AL022729,BC000566,BT006815,CR456558,AA809074,AI215119,AW236857,BM711121,DB502180,NM_001177701,NM_001177702,NR_033531 NP_006851,EAW60114,EAW60115,EAW60116,EAW60117,CAB62968,BAD92661,CAA18787,AAH00566,AAP35461,CAG30444,Q9BW83,CAK54589,CAK54888,CAQ07602,CAQ07603,CAQ07604,NP_001171172,NP_001171173 Hs.415172 RABL4|RAYL OTTHUMP00000197793|OTTHUMP00000197795|OTTHUMP00000197796|RAB, member of RAS oncogene family-like 4|intraflagellar transport protein 27 homolog|putative GTP-binding protein RAY-like|rab-like protein 4 protein-coding 1313356 RABL5 RAB, member RAS oncogene family-like 5 737633 15489334,14702039,12477932,12107410,17207965 737633 64792 NM_001130822,NM_001130821,NM_001130820,NM_022777,AC006329,CH471197,AK023287,AK024179,AK292254,AK298888,AL157469,BC009823,BC038668,BC050531,BU597007,CA396999,CA841889,CR593886,BC004522 NP_001124294,NP_001124293,NP_001124292,NP_073614,EAW50216,EAW50217,EAW50218,EAW50219,EAW50220,BAG51181,BAB14846,BAF84943,BAH12896,AAH04522,AAH09823,AAH38668,Q49AG1,Q9H7X7,CAH10693,ADQ33154 Hs.389104 DKFZp761N0823|FLJ13225|FLJ14117 OTTHUMP00000211529|RAB, member of RAS oncogene family-like 5|rab-like protein 5 protein-coding 1605432 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2293891,2293876,2293879 20404345,20660631,17702746,7957046,9490022,7938008,7744004,7738010,7673236,7629060,7545969,7493928,2674130,2108320,1903399,1643658,16526095,17077296,16687395,8994833,16436505,14597672,10394361,9139723,17353931,11368848,20395446,17719203,20067638,20167866,21071692,20426825,20203103,20578145,21056892,15467718,10954424,9312003,16636067,9572733,7744773,10648409,14737186,19596003,19563775,19555660,19505917,19497305,19472214,19463088,19429871,19429708,19423521,19390057,19366706,19344766,19277120,19234490,19201754,19165496,19162367,19155310,19132225,19107873,19095647,19047046,18984162,18922799,18838676,18826597,18813837,18813807,18805958,18792873,18769720,18768751,18725541,18716283,18684957,18676680,18653540,18646053,18644982,18632858,18602919,18596235,18508927,18501711,18482007,18480413,18463417,18445079,18440141,18433991,18424721,18344974,18334926,18325335,18321527,18319303,18319301,18310224,18296444,18287089,18261726,18249095,18235104,18216165,18172037,18165265,18160398,18160397,18156211,18093184,18088600,18086571,18079321,18070887,18064650,18056353,18045877,18006851,17982280,17982024,17941827,17916560,17904119,17868934,17851761,17848544,17766170,17702745,17693642,17686471,17663742,17637758,17627624,17622308,17615554,17604276,17597401,17568564,17565754,17562712,17562701,17521326,17517067,17513457,17478078,17428306,17409253,17356711,17347137,17301947,17300916,17275330,17244648,17234718,17233629,17229424,17122362,17121847,17115053,17088251,17081065,17074883,17064663,17027967,17018616,17018610,17012749,16982419,16951224,16914518,16861229,16825658,16809619,16775008,16772332,16762923,16751412,16716260,16707128,16681996,16628223,16551621,16507994,16492808,16439689,16410245,16397238,16395716,16390331,16354686,16339173,16339170,16280046,16257181,16246732,16243562,16195373,16195235,16027728,15976327,15905615,15901767,15864742,15860737,15850775,15817154,15777850,15647276,15614286,15579468,15569826,15535843,15494521,15489334,15479739,15470041,15377999,15351707,15308673,15304341,15303276,15298851,15265891,15247305,15231571,15226424,15194790,15194684,15187145,15170282,15166228,15123662,15123640,15121898,15048733,15023524,15009099,14976202,14960575,14764880,14736526,14729058,14702039,14701795,14641180,14625275,14623895,14576080,14573547,14557270,14514689,14506233,12972426,12960245,12919680,12912997,12883706,12879077,12874273,12861025,12853948,12810717,12761036,12719789,12716910,12714565,12690205,12676940,12657628,12650940,12612085,12606638,12584113,12574162,12547822,12533515,12524240,12511425,12499846,12477932,12453877,12393632,12393431,12377770,12376551,12239215,12181570,12169092,12134158,12123608,12117911,12115629,12086876,12054568,12038964,12027902,12006387,11998687,11973651,11955434,11950936,11950930,11948427,11896062,11893732,11884513,11839748,11822867,11756552,11685227,11595749,11590143,11513579,11513578,11478794,11457725,11438723,11422783,11416133,11346801,11284700,11278572,11260256,11258927,11163217,11135665,11134022,11130076,11130063,11101877,11090627,11084340,11062023,11035813,11030651,11027608,11021801,10958683,10871853,10821761,10816584,10779525,10766742,10747961,10673424,10617634,10597294,10559471,10523675,10508610,10486263,10346909,10220378,10051605,9857026,9843499,9808620,9799233,9786927,9624165,9582072,9535855,9463375,9427749,9417078,9305638,9255350,9190911,9148763,9083043,9033596,9030878,8990187,8798539,8769096,8756646,8702968,8670882,8670801,8643625,8631991,8496137,8491184,8107774,12915445,8036496,8034624,10873802,12110184,11274357,9642115,8939933,9079650,10869570,11431473,10947987,12819203,12454018,8543060,11287617,11328862,16169070,15147912,15975516,14530271,12944407,15864311,15735674,15642257,15649357,15723800,15652748,12538863,2550440,20131316,20515940,20606682,20648624,20372815,20339539,15597056,20451655,20650890,20936779,16982892,20814828,20841379,21036915,20001745,20070306,20530480,20530489,20837928,10706722,10802735,11604131,11756498,12376548,12730235,12787561,15051728,15247908,15294869,15642356,16188938,16628218,17215244,17245428,19079338,19170196,19171758,19356729,19403692,19423540,19443661,19448673,19469899,19473989,19480078,19487339,19487462,19506399,19509242,19584084,19602482,19617897,19625176,19625648,19633358,19639179,19640983,19651782,19692168,19706598,19709124,19710257,19723872,19726546,19738201,19787194,19823586,19826000,19853600,19865048,19895673,19911011,19917258,19926792,19934221,19948726,20054824,20056178,20082286,20102701,20116244,20154214,20179179,20228810,20237902,20308428,20335173,20339118,20406964,20438785,9487125,9520479,20696765,20522449,20852826 2293891,2293876,2293879 5879 AAB22206 AJ132695,NM_018890,NM_006908,AC009412,AL833528,CH236963,CH878731,CS026591,CS026817,DQ165078,AB209410,AB451238,AB451363,AF136373,AF498964,AJ132694,AK054993,AK122742,AK291806,AK291815,AY279384,BC004247,BC050687,BC107748,BG437715,BQ689587,BT007121,CR591797,CR612844,CR621312,CR624356,CR624866,D25274,M29870,M31467 NP_061485,NP_008839,AAS07511,AAS07512,CAA10733,CAB53579,EAL23718,EAL23719,EAL23720,EAW55039,EAW55040,EAW55041,EAW55042,EAW55043,EAW55044,CAI61762,CAI61874,AAZ80485,BAD92647,BAG70052,BAG70177,AAD30547,AAM21111,CAA10732,BAG51447,BAF84495,BAF84504,AAQ16632,AAH04247,AAH50687,AAI07749,AAP35785,AAA36537,AAA36544,AAB22206,P63000,Q59FQ0,ACE87406,ACE86720,ACE87731,ACE87049 Hs.413812 MGC111543|MIG5|TC-25|p21-Rac1 cell migration-inducing gene 5 protein|migration-inducing gene 5|ras-like protein TC25|ras-related C3 botulinum toxin substrate 1|rho family, small GTP binding protein Rac1 1643402 BMD2_H protein-coding 1346791 RAC1P1 ras-related C3 botulinum toxin substrate 1 pseudogene 1 387612 NG_005321,AC022884 HsT2789 pseudo 1342726 RAC1P2 ras-related C3 botulinum toxin substrate 1 pseudogene 2 15474301 442775 NG_005326,AC108931 Psi2Rac1 pseudo 1352022 RAC1P3 ras-related C3 botulinum toxin substrate 1 pseudogene 3 15474301 492295 NG_004753,AL354696 Psi3Rac1 pseudo 1348059 RAC1P4 ras-related C3 botulinum toxin substrate 1 pseudogene 4 15474301 286472 NG_004751,AL022576 Psi4Rac1|RAC4 pseudo 1342592 RAC1P5 ras-related C3 botulinum toxin substrate 1 pseudogene 5 This locus encodes one of the pseudogenes of the functional ras-related C3 botulinum toxin substrate 1 gene (RAC1, GeneID:5879) located on chr 7. It is intronless, shares overall 93% sequence identity with the RAC1 gene, and has enough differences in the coding region so as not to be able to code for a functional protein. There is no evidence of transcription at this pseudogene locus on chr 4. [provided by RefSeq] 15474301,17903307 402183 NG_005324,AC104663,AF542527 Psi1Rac1 pseudo 1316839 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. [provided by RefSeq] 1599398,1580863 16526095,2674130,11090627,16636067,19555660,19505917,19423521,19118104,18799653,18723130,18662984,18628988,18217210,18056264,17982024,17975262,17269730,17227822,16772332,16582540,15812594,15761153,15489334,15461802,15023524,14702039,12960248,12912997,12716910,12676940,12516569,12477932,12176041,12027902,11513578,11457725,11445862,11346801,11042152,11027608,10961859,10758162,10655614,10591208,10559471,9748241,9642115,9624165,9614111,9490022,9299243,8504089,1903399,1902092,1316893,16436505,14737186,11368848,10648409,11604131,12730235,16188938,19423540,19625648,20007712,20056178,20406964,20438785 1599398 5880 AAB22207 NG_007288,CH471095,Z82188,AF077208,AF498965,AK096924,BC001485,BC018735,BC051899,BT006919,CR456555,CR598121,CR600269,CR608461,CR612727,CR614981,CR615247,CR615260,CR616302,CR621380,CR623595,M29871,NM_002872 NP_002863,EAW60149,EAW60150,EAW60151,EAW60152,EAW60153,CAB45265,AAD27003,AAM21112,AAH01485,AAP35565,CAG30441,AAA36538,AAB22207,P15153,CAK54586,CAK54885,ABM84214,ABM87619,ABW03912 Hs.517601 EN-7|Gx|HSPC022 OTTHUMP00000197777|OTTHUMP00000197778|OTTHUMP00000197779|Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)|p21-Rac2|ras-related C3 botulinum toxin substrate 2|rho family, small GTP binding protein Rac2|small G protein protein-coding 1344542 RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. [provided by RefSeq] 11747336,11956649,16525025,19494130,18319303,17244648,16982419,16280046,16027728,15993075,15489334,12477932,11756406,10894930,10618392,9299243,9252344,8889548,2674130,12145209,15184363 5881 NM_005052,AC137723,AF008591,AF498966,BC009605,BC015197,BT019443,BU731383 NP_005043,AAC51667,AAM21113,AAH09605,AAH15197,AAV38250,P60763,ABM84049,ABM87399 Hs.45002 p21-Rac3|ras-related C3 botulinum toxin substrate 3|rho family, small GTP binding protein Rac3 protein-coding 1314228 RACGAP1 Rac GTPase activating protein 1 Rho GTPases control a variety of cellular processes. There are 3 subtypes of Rho GTPases in the Ras superfamily of small G proteins: RHO (see MIM 165370), RAC (see RAC1; MIM 602048), and CDC42 (MIM 116952). GTPase-activating proteins (GAPs) bind activated forms of Rho GTPases and stimulate GTP hydrolysis. Through this catalytic function, Rho GAPs negatively regulate Rho-mediated signals. GAPs may also serve as effector molecules and play a role in signaling downstream of Rho and other Ras-like GTPases.[supplied by OMIM] 1580863 10979956,11085985,11278976,16129829,12590651,19015243,18511905,18201571,17982282,17081983,16964243,16790497,16565220,16381901,16344560,16118207,15872091,15863513,15728185,15677464,15642749,15489336,15489334,15324660,15284113,15009096,14744859,14729465,14702039,12689593,12493759,12477932,12432077,11942621,11256614,11937491,11782313,11278894,11230166,11076863,10819331,10748082,10655059,9822598,9497316,9482736,9427749,9373149,9079650,8125298,16169070,12577067,17353931,15778465,19913121,20628086 29127 NM_013277,NM_001126103,NM_001126104,AC025154,CH471111,AB030251,AB040911,AK000733,AK022726,AK225901,AK315785,AL136794,BC024144,BC032754,CR533565,CR603322,CR615917,DA441098,DB076571 NP_037409,NP_001119575,NP_001119576,EAW58113,EAW58114,EAW58115,BAA90247,BAA96002,BAA91347,BAB14206,BAG38131,CAB66728,AAH24144,AAH32754,CAG38596,Q9H0H5,Q9H9L9,CAL38730,ABM85335,ABW03715 Hs.505469 HsCYK-4|ID-GAP|MgcRacGAP GTPase activating protein|male germ cell RacGap|rac GTPase-activating protein 1 protein-coding 1605021 RACGAP1P Rac GTPase activating protein 1 pseudogene 12477932 83956 NR_026583,AC008127,AF334184,BC125190,BC125191 AAG50293 Hs.650500 FKSG42 pseudo 1315145 RAD1 RAD1 homolog (S. pombe) This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq] 1580863 20188637,9660799,10359610,9716408,9872989,12791985,19074885,18950845,17855402,17583730,17493829,17395641,16814252,16731526,16216273,15897895,15871698,15556996,15489334,15314187,15122316,14702039,14611806,14500360,12578958,12477932,12228248,11994305,11944979,11907025,11799063,11573955,11418864,11340080,10884395,10852904,10846170,10777662,9878245,9828139,9828137,9705507,8361362,11572977,16169070,20677014,19523882,19535328,19615952,21077165,20545769 5810 NR_026591,AB183821,AB183822,AC026801,CH471119,DQ451401,AF011905,AF030933,AF058392,AF058393,AF073524,AF074717,AF076841,AF084512,AF084513,AF090170,AJ004974,NM_002853,AJ004975,AK002112,BC006837,BC009804,BC035771,BC037857,BT006908,CR610090 NP_002844,BAD86789,BAD86790,EAW55904,EAW55906,EAW55907,EAW55908,ABD96829,AAC27243,AAC95427,AAC14138,AAC95466,AAC98093,AAC95523,AAC35549,AAC35550,AAC95603,CAA06248,CAA06249,BAG51017,AAH06837,AAH09804,AAH37857,AAP35554,O60671,ABM82070,ABM85250 Hs.38114 HRAD1|REC1 DNA repair exonuclease REC1|DNA repair exonuclease rad1 homolog|OTTHUMP00000115992|cell cycle checkpoint protein Hrad1|cell cycle checkpoint protein RAD1|checkpoint control protein HRAD1|exonuclease homolog RAD1|rad1-like DNA damage checkpoint protein protein-coding 1319895 RAD17 RAD17 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Eight alternatively spliced transcript variants of this gene, which encode four distinct proteins, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq] 1580863 10884395,15538388,9660800,14657349,18029348,18950845,18378394,17657792,16951182,16885023,16381901,16314342,15489336,15489334,15485898,15235112,14702039,14624239,14611806,14605214,14500819,12672690,12578958,12477932,12400013,11907025,11799063,11715513,11687627,11602352,11572977,11418864,11230166,11076863,10852904,10608806,10593953,10480350,10232579,10208430,9933569,9878245,9869296,9716408,1563350,16354571,21077165,20424596,19615732,12791985,14968112,15149599,18245774 5884 NM_133338,NM_133342,NM_133344,NM_002873,NM_133341,NM_133340,NM_133339,AC145132,AC145145,AC145146,AF106065,AJ131296,AY612854,CH471137,AF017748,NM_133343,AF085736,AF098533,AF098534,AF112263,AF126424,AJ001642,AJ004977,AK292487,AL122068,BC018110,BC032304,BX537441,CR608057,CR625205,AF076838,CR625793 NP_579921,NP_579916,NP_579920,NP_579922,NP_002864,NP_579919,NP_579918,NP_579917,AAD42176,CAB46364,AAT09763,EAW51279,EAW51280,EAW51281,EAW51282,EAW51283,EAW51284,EAW51285,EAW51286,EAW51287,EAW51288,EAW51289,AAD01620,AAC95520,AAC36334,AAC97950,AAC97951,AAD38878,AAD17334,CAA04894,CAA06251,BAF85176,CAB59244,AAH32304,CAD97683,O75943,CAL37923,ABM82534,ABM85727 Hs.16184 CCYC|FLJ41520|HRAD17|R24L|RAD17SP|RAD24 OTTHUMP00000222130|RAD1 homolog|RF-C activator 1 homolog|RF-C/activator 1 homolog|Rad17-like protein|cell cycle checkpoint protein (RAD17)|cell cycle checkpoint protein RAD17 protein-coding 1352798 RAD17P1 RAD17 homolog (S. pombe) pseudogene 1 10480350 9207 NG_002929,AC098592,AJ131309,CH236948 HRAD17P1 pseudo 1343366 RAD17P2 RAD17 homolog (S. pombe) pseudogene 2 10480350,9660800 9206 NG_002928,AL161421 FLJ31509|HRAD17P2|KIAA0970 pseudo 1315923 RAD18 RAD18 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq] 1580863 19013543,12477932,20385554,18363965,10884424,10908344,19630985,19396164,18926833,18290323,17914568,17624554,17541157,17242200,17158148,17081983,16964243,16824193,16710452,16611994,16565220,16098139,15509568,15489334,15381075,15359278,15302935,14702039,12856420,12016221,9373149,8125298,18316726,19549727,20675655,17720710,19228710,19556710,20056641,20453000 56852 AC008151,NM_020165,AC034186,AY961989,CH471055,AB035274,AF169796,AK023075,AK222771,AY004333,BC001302,CR598315,CR626625,DW433240 NP_064550,AAX44049,EAW63948,EAW63949,BAA99284,AAF80856,BAB14392,BAD96491,AAF86618,AAH01302,Q53H10,Q9NS91,ABM82123,ABM85306 Hs.375684 RNF73 E3 ubiquitin-protein ligase RAD18|RAD18, S. cerevisiae, homolog|RING finger protein 73|hHR18|hRAD18|postreplication repair protein RAD18|postreplication repair protein hRAD18p protein-coding 1317642 RAD21 RAD21 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq] 1580863 12672959,8812457,19369356,19322193,19158269,19074885,18829510,16416296,16344560,15837422,15767545,15737063,15489334,14702039,14603436,12477932,12417729,12200439,12198550,12034751,11875078,11793857,11590136,11509732,11483345,11243849,11076961,11073952,10931856,10623634,10207075,7584044,12930902,20404533,20404544,11111111,15855230,17112726,17113138,18029348,18197499,19468298,20056645,20085707,19308699 5885 NM_006265,AC087350,AY675320,CH471060,AK097915,AK098521,AK125620,AK289505,BC001229,BC050381,D38551,DA328186,X98294 NP_006256,AAT70725,EAW91963,EAW91964,EAW91965,BAG53550,BAF82194,AAH50381,BAA07554,CAA66940,O60216 Hs.81848 FLJ25655|FLJ40596|HR21|HRAD21|KIAA0078|MCD1|NXP1|SCC1|hHR21 NXP-1|SCC1 homolog|double-strand-break repair protein rad21 homolog|nuclear matrix protein 1|protein involved in DNA double-strand break repair protein-coding 1348792 RAD21L1 RAD21-like 1 (S. pombe) 12477932,11780052,19010793 642636 NM_001136566,AL031665,AL136531,BC157891,BC171911 NP_001130038,CAC10381,CAO03527,AAI57892,AAI71911,Q5QPN2,Q5QPN3,Q5W0X4,Q9BYW7,Q9H4I0,CAX15024,CAX15025 Hs.713451 MGC198626|dJ545L17.2 (S. pombe)|OTTHUMP00000029969|double-strand-break repair protein rad21-like protein 1 protein-coding 1320493 RAD23A RAD23 homolog A (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair (NER). This protein was shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, as well as with ubiquitin protein ligase E6AP, and thus suggests that this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. [provided by RefSeq] 1580863 20614012,16189514,8168482,8808275,19161404,17408689,17098253,16924240,16713569,16430867,16105547,15489334,15321727,15057824,14645509,14557549,12970176,12477932,12200120,12079361,11827521,11788722,11571271,11426943,11259200,11196199,11087358,10915768,10854423,10488153,10373495,9846873,9636371,9490418,9371639,9164480,8692695,8037842,7851894,16120388,18054791,19913121,20628086,16405905,16799550,12643283,9372924,16712842,19615732,19724136,20496165,20522537 5886 CR602320,CR602919,CR611081,CR614456,CR615357,CR622590,CR626267,D21235,M77024,NM_005053,AC092069,AD000092,AF549209,CH471106,AB209713,AK289908,AK293219,BC014026,BC088364,BI832600,CR591185,CR594483,CR594893,CR596019,CR597251,CR597375 BAA04767,P54725,Q59EU8,Q5M7Z1,NP_005044,AAB51177,AAN39383,EAW84333,EAW84334,BAD92950,BAF82597,BAG56758,AAH14026,AAH88364 Hs.643267 HHR23A|MGC111083 HR23A|RAD23, yeast homolog, A|UV excision repair protein RAD23 homolog A protein-coding 1351559 RAD23B RAD23 homolog B (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. [provided by RefSeq] 1580863 15358861,8168482,10583946,10214908,19536092,19444904,19270000,19237606,19124519,19116388,19074885,18854777,18830263,18709642,18708406,18676680,18574675,17932354,17728339,17081983,16713569,16712842,16537713,16492920,16399771,16344560,16253613,15885096,15866714,15849729,15550378,15489334,15164053,15064313,14645509,14585839,12832454,12815074,12505994,12477932,12215374,11827521,11562482,11279143,11259578,10915768,10854423,10488153,9734359,9373149,8692695,8125298,7851894,17662948,18029348,20966902,19941824,20575039,19435460,16424905,19170196,19182904,19538122,19615732,19625176,19692168,19740755,19878615,20150366,20453000,20496165,20522537 5887 BQ277025,BQ774932,CA866470,CR592064,CR606267,CR609543,CR622837,D21090,NM_002874,AL137852,AY165178,CH471105,AI285544,AK125226,AK223479,AK293532,AK297986,AK316189,AL540969,AU125295,AW402384,AY313777,BC015805,BC020973,BE894394,BG678535,BQ230600 BAA04652,P54727,Q53F10,Q5W0S4,Q5W0S5,Q7Z5K8,ABM92180,ABM84652,NP_002865,CAD13275,CAH70394,CAH70395,CAH70396,AAN47194,EAW59016,EAW59017,BAG54170,BAD97199,BAG57014,BAH12700,BAH14560,AAP81008,AAH20973 Hs.521640 HHR23B|HR23B|P58 RAD23, yeast homolog of, B|UV excision repair protein RAD23 homolog B|XP-C repair complementing complex 58 kDa|XP-C repair complementing protein|XP-C repair-complementing complex 58 kDa protein protein-coding 1345277 RAD23BLP RAD23 homolog B (S. cerevisiae)-like pseudogene 54034 733899 RAD50 RAD50 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq] 2293511,2300220,2300250,1578504,1302871,68816 9705271,15279769,12152085,9590181,8756642,10888888,19244322,19197236,19190165,19131452,19124506,19064572,19064565,18950845,18846228,18830935,18829552,18638378,18632984,18596698,18469862,18219098,17932350,17898048,17715134,17700070,17694070,17693401,17567994,17534377,17526493,17524422,17456004,17426050,17349953,17169801,17081983,16905549,16788144,16474176,16385572,16254336,16163361,16087684,16051665,15937485,15790808,15723659,15653682,15635413,15489334,15456891,15302935,15234984,15180989,15100233,15064416,14698290,14684699,14550546,12805565,12660252,12607005,12607003,12477932,12384589,12124628,12007281,11877377,11809878,11790298,11741547,11533665,11438675,11238951,11096100,10839544,12679336,18716619,20224574,10802669,10783165,10426999,10415333,10346816,9651580,9315668,11504724,10508516,17525332,14519663,17353931,10959836,15758953,19714462,20571869,20610542,20682289,20813000,21077165,16344560,18212065,19270065,19383352,19573080,19584272,19609304,19615732,19633668,19638463,19690177,19773279,19797051,19840389,19862546,19866438,19904603,19910469,19917125,20010693,20159242,20232390,20485362,20496165 2293511,2300220,2300250,1578504,1302871,68816 10111 NM_005732,AC004041,AC004042,AC116366,CH471062,AF057299,AF057300,AK290597,AK307439,BC062603,BC073850,BC108282,BC136436,BC140005,DQ655928,U63139,DB112912,NG_021151 NP_005723,EAW62328,EAW62329,EAW62330,AAD50325,AAD50326,BAF83286,AAH62603,AAH73850,AAI08283,AAI36437,AAI40006,AAB07119,Q32P42,Q92878 Hs.633509 NBSLD|RAD50-2|RAD502|hRad50 DNA repair protein RAD50 protein-coding 1316727 RAD51 RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2292636,2292635,2292634,2298723,2292638,2298722,2292632,1580863,2292637 19124506,11248061,7988572,12442171,17515903,8929543,8358431,12427746,11309417,9826763,10438626,11080452,12606939,19622740,19606696,19584272,19573080,19549356,19536092,19427856,19426727,19386720,19329439,19303847,19285032,19253839,19251090,19237606,19214744,19165339,19150983,19140342,19133161,15965906,15958648,15944450,15766559,15750625,15734952,15713648,15671039,15665856,15611070,15489334,15466868,15330855,15313891,15226506,15165851,15138485,15123651,15102670,15095978,15064730,15036125,14724582,14599770,14559999,12917330,12883740,12826751,12750285,12750242,12673366,12650908,12619154,12477932,12359753,12242698,12242278,12239151,12226092,12205100,12077133,12036913,12023982,11935313,11867550,11842113,11839741,11839740,11839739,11809887,11782381,11691922,11684015,11580245,11535547,11477095,11337467,11278509,11256631,19122145,19117011,19116388,19097142,19092295,19074885,19071013,19064572,19064565,19060884,19027952,19010915,19004837,18990028,18978339,18977234,18974064,18950845,18840682,18794841,18768166,18761348,18756535,18752184,18676680,18632222,18618591,18617519,18581889,18570881,18544565,18535008,18439040,18429825,18417535,18413737,18317453,18256600,18203022,18173750,18033323,17999359,17947332,17942895,17889711,17761709,17709342,17685459,17672918,17666788,17639080,17616806,17591918,17557904,17549502,17544928,17515904,17513613,17483448,17483304,17302439,17301259,17180310,17118968,17078101,17063276,17007294,17001309,16979659,16902145,16890287,16843501,16837909,16723430,16644292,16638864,16629903,16624636,16624550,16596227,16516153,16477874,16475125,16432240,16427610,16398215,16395335,16367760,16261408,16215984,16186822,16169070,16018971,16000324,9405383,11950880,11498787,17353931,10959836,14530271,15800615,11799066,11239456,11154282,11005857,11002423,10998058,10851248,10851081,10807537,10619018,10562567,10493508,10446958,10390347,10212258,10082566,9891849,9880493,9774970,9607320,9461559,9396801,9380510,9321665,9192668,9126738,9121429,9008167,8921390,8816780,8812453,8703992,8675009,8617246,8610150,8479919,8188269,17090598,16983346,16511829,14755242,14580352,15065660,14636569,12815053,11313963,9811893,9560268,9523196,20189471,20215422,20236180,20413593,21056573,20602259,20610542,20623332,20640595,20644561,20804747,20299221,16914443,18769160,19549900,20731661,20813000,20092964,20729832,10551859,12379650,15800651,15899844,16415210,16428451,16756962,16990250,18449195,18834951,19157634,19170196,19396164,19505457,19540122,19587234,19625176,19628690,19632996,19661089,19671671,19690177,19692168,19725871,19772428,19773279,19789190,19884492,19914098,19952118,19956565,19960343,19996105,20002770,20004634,20054644,20107607,20150366,20154705,20188668,20207730,20348101,20358297,20368715,20373286,20396943,20400964,20453000,20454923,20461453,20496165,20522537,20729858,20729859,20871616 2292636,2292635,2292634,2298723,2292638,2298722,2292632,2292637 5888 AK303089,AK313503,AU100170,AY425955,BC001459,BT019705,CR536559,CR594665,CR606487,CR619182,CR622784,CR626167,D13804,D14134,EU362635,NM_133487,NM_002875,NG_012120,NM_001164269,NM_001164270,AC012476,AC022405,AF165088,AF203691,AF233740,AY196785,CH471125,AK131299,AK291969 BAG64200,BAG36283,AAR07948,AAH01459,AAV38511,CAG38796,BAA02962,BAA03189,ABY59731,Q06609,Q5U0A5,Q6TAR4,Q6ZNA8,Q9NZG9,NP_597994,NP_002866,NP_001157741,NP_001157742,AAD49705,AAF61901,AAF69145,AAN87149,EAW92431,EAW92432,EAW92433,EAW92434,EAW92435,BAD18467,BAF84658 Hs.631709 BRCC5|HRAD51|HsRad51|HsT16930|RAD51A|RECA BRCA1/BRCA2-containing complex, subunit 5|DNA repair protein RAD51 homolog 1|RAD51 homolog A|RecA, E. coli, homolog of|RecA-like protein|recombination protein A protein-coding 1353541 RAD51AP1 RAD51 associated protein 1 1580863 17996710,15489334,14966907,14702039,12477932,8889548,9396801,18316552,17996711,17207965,20871616,19615732,20201926,20558539,21077165 10635 NM_001130862,AC005832,CH471116,AF006259,AK096930,AK290428,AK291948,AK300773,AK309706,AL832243,BC005973,BC006992,BC016330,BU689445,CR625391,DC397655,NM_006479,AK316367 Q96B01,NP_006470,NP_001124334,EAW88843,EAW88844,AAC39554,BAC04902,BAF83117,BAF84637,BAG62437,AAH06992,AAH16330,ADQ31726,BAH14738 Hs.726144 PIR51 RAD51-associated protein 1|RAD51-interacting protein protein-coding 2311158 RAD51AP2 RAD51 associated protein 2 16990250 729475 NM_001099218,AC104812,AK310498,DB514225,DQ860102 NP_001092688,ABI64147,Q09MP3 Hs.515802,Hs.722353 RAD51-associated protein 2 protein-coding 1350974 RAD51C RAD51 homolog C (S. cerevisiae) This gene is a member of the RAD51 family of related genes, which encode strand-transfer proteins thought to be involved in recombinational repair of damaged DNA and in meiotic recombination. This gene product interacts with two other DNA repair proteins, encoded by RAD51B and XRCC3, but not with itself. The protein copurifies with XRCC3 protein in a complex, reflecting their endogenous association and suggesting a cooperative role during recombinational repair. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing has been observed for this gene and two variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 9469824,19237606,19124506,19064565,17114795,16395335,16215984,15489334,15292210,15170666,14716019,14704354,12975363,12966089,12477932,12427746,12118380,12036913,11842113,11842112,11751636,11751635,11744692,11459987,11410366,11331762,11034073,11034067,10888877,10749867,15115758,15065660,20723205,21077165,20952512,19714462,20697805,19451272,20400963,20400964,20496165,20522537 5889 NM_058216,NM_002876,AC011195,AC025521,AY623112,CH471109,AF029669,AF029670,AK290487,AK303363,BC000667,BC073161,BC093930,BC101485,BC107753,BC143259,BT007339,CR623930,NG_023199 NP_478123,NP_002867,AAT38108,EAW94430,EAW94431,EAW94432,EAW94433,EAW94434,AAC39604,AAC39605,BAF83176,BAG64422,AAH93930,AAI01486,AAI07754,AAP36003,O43502,O43503 Hs.412587 BROVCA3|FANCO|MGC104277|RAD51L2 DNA repair protein RAD51 homolog 3|OTTHUMP00000180606|R51H3|RAD51 homolog C, isoform 1|RAD51-like protein 2|yeast RAD51 homolog 3 protein-coding 1344706 RAD51L1 RAD51-like 1 (S. cerevisiae) The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 9441753,19330030,19329439,18270339,15701685,15489334,14704354,14595808,12975363,12649198,12508121,12477932,12441335,12427746,12118380,11978964,11842113,11842112,11751636,11751635,11744692,10938124,10565301,9892177,9878257,9788630,9207106,8889548,6261043,4595808,15115758,15065660,21077165,9512535,19714462,20610542,19657362,20095854,20195514,20237344,20379614,20496165,20522537 5890 NG_023267,NM_133509,NM_002877,NM_133510,AC004518,AL121595,AL121820,AL122013,AL133370,AL136294,AL157915,AL589168,CH471061,DQ160197,AK309787,AK310686,AL597484,AY138857,AY138858,AY138859,BC030219,BM671299,BX161515,BX248061,BX248766,CB051081,CR536560,U84138,U92074,Y15571,BQ101024,CK823089 NP_598193,NP_002868,NP_598194,AAC32425,AAC32426,EAW80957,EAW80958,EAW80959,AAZ85144,AAN60542,AAN60543,AAN60544,AAH30219,CAD61950,CAD62357,CAD66573,CAG38797,AAC39723,AAB63358,CAA75680,O15315,ABM81852,ABM85007 Hs.172587 MGC34245|R51H2|RAD51B|REC2|hREC2 DNA repair protein RAD51 homolog 2|OTTHUMP00000212251|OTTHUMP00000212253|OTTHUMP00000212254|OTTHUMP00000212255|RAD51 homolog B|RAD51-like protein 1|RecA-like protein|recombination repair protein protein-coding 1315846 RAD51L3 RAD51-like 3 (S. cerevisiae) The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Several alternatively spliced transcript variants of this gene have been described, but the biological validity of some of them has not been determined. [provided by RefSeq] 1580863 20054644,20819778,21077165,9570954,17353931,19237606,18058226,16717288,16395335,15489334,15170666,15109494,14759258,12975363,12477932,12118380,11842113,11842112,11834724,11751636,11751635,11744692,10871607,10749867,10092526,9512535,15115758,15065660,20189471,14704354,16710300,19690177,20496165,20522537 5892 NM_002878,NM_133629,NM_001142571,AC022916,AY623116,CH471147,AB013341,AB016223,AB016224,AB016225,AB018360,AB018361,AB018362,AB018363,AB020412,AF034956,AK296241,AK301249,AK302450,AL117459,BC002723,BC014422,BI916871,BX647297,Y15572,NR_037711,NR_037712 NP_002869,NP_598332,NP_001136043,AAT38112,EAW80181,EAW80184,EAW80190,EAW80196,BAA25914,BAA31747,BAA31748,BAA31749,BAA33779,BAA33780,BAA33781,BAA33782,BAA34690,AAC39719,BAG58959,BAG62816,BAG63746,CAB55937,AAH02723,AAH14422,CAA75681,O75771,Q7Z790,ABM83244,ABM86446 Hs.631757 HsTRAD|R51H3|RAD51D|TRAD|Trad DNA repair protein RAD51 homolog 4|OTTHUMP00000163853|RAD51 homolog D|RAD51-like protein 3|recombination repair protein protein-coding 1312725 RAD52 RAD52 homolog (S. cerevisiae) The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. [provided by RefSeq] 1580863 20190268,7774919,14734547,10438626,10921897,19237606,19124506,19092295,19074292,19064572,19064565,18990028,18676680,18593704,18449888,18313388,18270339,18203022,18086758,17040915,16956909,16638864,16367760,16018971,15958648,21077165,15670896,15571718,15205484,15205482,14690434,12883740,12750383,12477932,12379650,12376524,12372413,12370410,12191481,12139939,12036913,12023982,11809887,11691922,11571269,11456495,11081631,10744977,10673031,8921390,8812453,7797537,7526206,12077133,12659830,10212258,15766559,19714462,20610542,20644561,19170196,19506022,19530647,19536092,19625176,19661089,19692168,19789190,19799994,19996105,20081207,20150366,20453000,20496165,20522537 5893 AC004803,AF187983,AY527412,CH471116,AF125948,AF125949,AF125950,AK290047,AK292160,AK294709,AK299283,AK312026,AL558884,NM_134424,AY540753,BC042136,BC104015,BC104016,BC104017,BC114507,BC114954,BC144458,L33262,U12134,U27516,NG_017078 NP_602296,AAF05531,AAF05532,AAF05533,AAF05534,AAS00097,EAW88942,EAW88943,EAW88944,EAW88945,EAW88946,EAW88947,EAW88948,EAW88949,EAW88950,AAD24575,AAD24576,AAD24577,BAF82736,BAF84849,BAH11854,BAH12992,BAG34963,AAT44403,AAI04016,AAI04018,AAI14955,AAB05203,AAA85793,AAA87554,P43351,Q1RMF2,Q3MI84,Q5DR82,Q9UHE1,Q9UHE2,Q9UHE3,Q9UHE4,Q9Y5T7,Q9Y5T8,Q9Y5T9,AAI60123 Hs.410355 DNA repair protein RAD52 homolog|recombination protein RAD52|rhabdomyosarcoma antigen MU-RMS-40.23 protein-coding 1604371 RAD54B RAD54 homolog B (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq] 20531236,19536092,19690177,20522537,20687897,10362364,16428451,18029348,19218431,19124506,19012493,18718930,18463164,17585536,16945962,16189514,15489334,15164066,12477932,11884632,11782437,10851248,17353931,20610542,21077165 25788 NG_012878,AC023632,NM_012415,AF487652,AP003534,CH471060,AF007866,AF086020,AF112481,AK290437,AK307516,AL133578,BC001965,BC020668,BC033710,CR602319 O95073,Q9UF71,Q9Y620,NP_036547,AAL96666,EAW91713,AAD09313,AAD34331,BAF83126,CAB63724,AAH01965,AAH33710 Hs.30561 FSBP|RDH54 DNA repair and recombination protein RAD54B|fibrinogen silencer binding protein protein-coding 1321600 RAD54L RAD54-like (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein. 1580863,1599748,2317365 8805304,19147782,18676680,18617519,18270339,18203022,17660833,17545145,17417655,17054727,16862129,16710414,16540687,16520463,16344560,15975611,15489334,12614485,12477932,12205100,11459989,11289143,10640146,10449612,10362365,9774452,9321665,9192813,8889548,11799067,15782160,15806108,19170196,19573080,19625176,19692168,19773279,20496165,20522537,20610542,20813000,21077165 1599748,2317365 8438 NM_003579,NM_001142548,NG_012144,AL121602,AY623117,CH471059,AA582917,AK292611,AK297204,BC121059,BC121060,BM464345,CR591799,CR594300,DB048280,DB449264,X97795,BM678712 NP_003570,NP_001136020,CAI22117,AAT38113,EAX06929,EAX06930,BAF85300,BAG59689,AAI21060,AAI21061,CAA66379,Q92698 Hs.642042 HR54|RAD54A|hHR54|hRAD54 DNA repair and recombination protein RAD54-like|RAD54 homolog protein-coding 1604389 RAD54L2 RAD54-like 2 (S. cerevisiae) 19692572,20379614,16713569,14702039,12477932,10961928,9872452 23132 NM_015106,AC099050,AC113933,AB018352,AF161443,AK023824,AK025049,AK026053,AK122683,AK304881,AK308456,BC001474,BC024298,AC092037 NP_055921,BAA34529,AAF29003,BAG51226,BAG53666,BAG65618,AAH01474,AAH24298,Q9P057,Q9Y4B4,ABM83116,ABM86312 Hs.105399 ARIP4|FLJ21396|FLJ22400|HSPC325|KIAA0809|SRISNF2L OTTHUMP00000210982|RAD54-like protein 2|androgen receptor-interacting protein 4|helicase ARIP4 protein-coding 1321649 RAD9A RAD9 homolog A (S. pombe) This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein is found to possess 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Use of alternative polyA sites has been noted for this gene. [provided by RefSeq] 20188637,12628935,8943031,12791985,9872989,18029348,18936170,18842633,18316588,18215141,18156970,17511890,17493829,17395641,17081983,16814252,16731526,16479004,16365875,16216273,15871698,15773892,15558813,15556996,15489334,15326225,15314187,14988409,14966297,14611806,12941802,14500360,15897895,12766152,12734188,12709442,12578958,12477932,12228248,12049741,11994305,11944979,11907025,11799063,11573955,11551919,11395493,11340080,11278446,11077446,10852904,10777662,10620799,11572977,16189514,10713044,11971963,10846170,10359610,10884395,19913121,20628086,21077165,15983387,17575048,18616832,18794804,19411845,19523882,19535328,19536092,19615952,20081369,20305300,20545769 5883 NM_004584,AP003419,AY766122,CH471076,AA708970,AK310213,AK315348,BC014848,CR536508,CR624269,U53174 NP_004575,AAU89725,EAW74604,EAW74605,EAW74606,BAG37745,AAH14848,CAG38746,AAB39928,Q99638 Hs.655354 RAD9 DNA repair exonuclease rad9 homolog A|cell cycle checkpoint control protein RAD9A|hRAD9 protein-coding 1317874 RAD9B RAD9 homolog B (S. cerevisiae) 14500360,12791985,16365875,15489334,14702039,14611806,12477932 144715 AK301826,AK302512,AC002350,CH471054,AK058176,AK097665,AK124109,AY297459,BC037353,BC047645,BC068031,BI459646,NM_152442 BAG63272,BAG63788,NP_689655,EAW97920,EAW97921,EAW97922,EAW97923,EAW97924,EAW97925,EAW97926,BAB71704,BAC05138,BAC85774,AAQ62859,AAH47645,AAH68031,Q6WBX8 Hs.97794 FLJ40346|MGC75426 DNA repair exonuclease rad9 homolog B|OTTHUMP00000202792|OTTHUMP00000202793|OTTHUMP00000202796|cell cycle checkpoint control protein RAD9B|cell cycle checkpoint control protein RAD9B homolog|hRAD9B protein-coding 1604337 RADIL Ras association and DIL domains 17353931,17704304,16344560,16051602,15489334,15146197,14702039,12853948,12477932,11347906,11230166,16169070,16189514,15324660,16713569,20048162 55698 AC092610,CH236953,CH471144,AB058752,AK000997,AK001186,AK294745,AK296325,AK302549,AL136731,BC004919,BC117317,BC126311,BC143526,BG722917,NM_018059,BQ942667,CN365550,DA241653,EF560723 NP_060529,AAS07559,AAS07560,EAL23966,EAW87300,EAW87301,EAW87302,EAW87303,BAB47478,BAA91459,BAA91543,BAH11867,BAH12316,BAH13739,CAB66665,AAH04919,AAI17318,AAI26312,AAI43527,ABQ59033,Q75LH2,Q96JH8 Hs.667336 FLJ10324|FLJ60975|KIAA1849|MGC161589|RASIP2 Rap GTPase interactor|ras-associating and dilute domain-containing protein protein-coding 1323051 RAE1 RAE1 RNA export 1 homolog (S. pombe) Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20530257,16479161,9256445,15851029,10209021,12228227,9370289,18212744,17172455,15629720,15489334,14702039,12477932,11831386,11780052,11520456,11352911,10668806,9918853,8982867,15778465,20498086,10601273,16169070,18832153,19615732,20016259 8480 NM_001015885,NM_003610,AL109955,AL135939,CH471077,AI341915,AK055170,AK126024,AK292247,AK307966,AK309069,AK309743,AY336091,AY349350,BC103754,BC106923,BC106924,CR590192,CR601825,CR602439,CR602444,CR605228,CR616830,CR619404,CR621755,CR622985,CR624730,CR625649,CR626728,U84720 NP_003601,NP_001015885,CAI21524,CAM28253,CAM28254,EAW75523,EAW75524,EAW75525,BAF84936,AAR24621,AAR04856,AAI03755,AAI06924,AAI06925,AAC28126,P78406,Q5J8M4,CAX15041 Hs.371698 FLJ30608|MGC117333|MGC126076|MGC126077|MIG14|MRNP41|Mnrp41|dJ481F12.3|dJ800J21.1 homolog of yeast Rae1 (Bharathi) mRNA-associated protein of 41 kDa (Kraemer)|mRNA export factor|mRNA export protein|mRNA-associated protein MRNP 41|mRNA-binding protein, 41-kD|migration-inducing gene 14|rae1 protein homolog protein-coding 1322405 RAET1E retinoic acid early transcript 1E Members of the RAET1 family, such as RAET1E, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb cluster on chromosome 6q24.2-q25.3. RAET1 proteins contain MHC class I-like alpha-1 and alpha-2 domains. RAET1E and RAET1G (MIM 609244) differ from the other RAET1 proteins (e.g., RAET1I, or ULBP1; MIM 605697) in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM] 1580863 20054857,15240696,19436053,18544572,17470428,15026360,14574404,14508119,12975309,12732206,12477932,11827464,19688209,20219610,20237496 135250 NM_139165,AL355312,CH471051,AF359243,AY054974,AY069961,AY176317,AY252119,AY359075,BC101976,BC103694,EF489426 NP_631904,CAH72868,CAH72869,EAW47781,EAW47782,EAW47783,AAL76417,AAL11005,AAL58090,AAO22240,AAP15166,AAQ89434,AAI01977,AAI03695,ABR29881,Q3T1D4,Q3ZAR2,Q8TD07 Hs.511818 LETAL|MGC125308|MGC125309|RAET1E2|ULBP4|bA350J20.7 N2DL-4|NKG2D ligand 4|NKG2DL4|RAE-1-like transcript 4|RL-4|lymphocyte effector toxicity activation ligand protein-coding 1345724 RAET1F retinoic acid early transcript 1F pseudogene 11827464 353089 NG_005420,AL583835 pseudo 1343371 RAET1G retinoic acid early transcript 1G Members of the RAET1 family, such as RAET1G, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb cluster on chromosome 6q24.2-q25.3. RAET1 proteins contain MHC class I-like alpha-1 and alpha-2 domains. RAET1E (MIM 609243) and RAET1G differ from the other RAET1 proteins (e.g., RAET1I, or ULBP1; MIM 605697) in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM] 15240696,19424970,19223974,12477932,11827464,19688209,20219610,20304922,20379614 353091 NM_001001788,AL583835,CH471051,AK310157,AY172579,AY172580,BC096719,BC098152 NP_001001788,CAH71653,EAW47779,AAO22238,AAO22239,AAH96719,AAH98152,Q4V753,Q4V9S8,Q6H3X3 Hs.558792 ULBP5 OTTHUMP00000212236|retinoic acid early transcript 1G protein|retinoic acid early transcript 1G pseudogene protein-coding 1346870 RAET1J retinoic acid early transcript 1J pseudogene 11827464,11827464 353092,345829 AL355497,NG_005361 pseudo 1344389 RAET1K retinoic acid early transcript 1K pseudogene 11827464 646024 NR_024045,AL355497,AF425244 Hs.560537 pseudo 1318758 RAET1L retinoic acid early transcript 1L RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM] 16344560,11827464,12477932,19688209,20219610,20237496,19658097 154064 AL355497,CH471051,AY039682,BC131600,DA442768,NM_130900 NP_570970,CAH74125,EAW47773,EAW47774,AAK91503,AAI31601,Q5VY80,AAI48628,AAI53192 Hs.558659 ULBP6 OTTHUMP00000017409|UL16 binding protein 6|retinoic acid early transcript 1L protein protein-coding 1346440 RAET1M retinoic acid early transcript 1M pseudogene 11827464,11827464 353094,353094 AL355497,NG_008390 pseudo 737596 RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq] 1580696,1580668,1626216,2293882,1580863,1357969,1580106,1302749 10969079,10869570,10837247,10783161,10620507,10585452,10576742,10531364,10523642,10523633,10498616,10497893,10486249,10454553,10373531,10329666,10205168,10064593,9867809,9823899,9819434,9710607,9689060,9671314,9553107,9523700,9488663,9446616,9373149,9315742,9234708,9230211,9153224,9115221,9099670,9091312,9001246,8939988,8929531,8911690,8910675,8900182,8889548,8876196,8816460,8756332,8753867,8710867,8702721,8692945,8621729,8530446,8408024,8394352,8393135,8349631,8349614,8321321,8157000,8125298,8084603,8035810,7939632,7791872,7782277,7766599,7731720,7730360,7644510,7628630,7517401,7477354,3616625,3003687,2993863,2955285,2475255,1846778,1639773,1612588,1611909,9658081,8887682,12734410,11463741,17666399,7744247,15591313,15489334,15485920,15470083,15451031,15314064,15302887,15211515,15122343,15075335,15067053,15041731,14688025,14623285,12975377,12954639,12925535,12865432,12851216,12843393,12717443,12691824,12682854,12663662,12626521,12620389,12551923,12490852,12477932,12429936,12391160,12374792,12360521,12244094,12237340,12127063,12087097,12010819,11997508,15618521,11971957,11948406,11853019,11788587,11784866,11756411,11751906,11733498,11604401,11447113,11427728,11409918,11350735,11325826,11306563,11226259,11171046,11134016,11044439,11005817,17353931,10757792,8663231,10887173,10611249,9261098,10848612,11969417,11676916,15031288,14724584,14654780,12379659,10922060,10882715,10369681,9154803,9150145,8628317,7969158,7862125,10557073,15854902,15150271,12774123,14597674,15778465,12079506,16041367,15866172,15752761,15705808,14724641,14654844,15688026,7559537,15035987,11585923,8307946,7523381,19895838,16504566,16537561,20052757,20688353,7935795,20389169,20630999,9624170,10433554,11520933,8929532,8063729,9069260,19492075,19380724,19363522,19357705,19298812,19206169,19133693,19122653,19058874,19047752,19037990,19020799,19011619,19001375,18952605,18794803,18715846,18708364,18660489,18592002,18483265,18472967,18465753,18356164,18316782,18294816,18241070,18182859,18064632,18006502,17998336,17889508,17724343,17635919,17603483,17603482,17572489,17462920,17428866,17397260,17332776,17277048,17243098,17097642,17081983,17064357,17018604,16964381,16924233,16909118,16883571,16862215,16803888,16707572,16575407,16569214,16565089,16537381,16465392,16413928,16364920,16332724,16301319,16266749,16239230,16172610,16086581,16029117,15925322,15899852,15849194,15845549,15711535,15710605,15674327,15666389,15664191,15662129,15657590,15653554,19913121,20071468,20489206,20543023,20234004,10712923,15459208,15520859,15935327,16093354,16330544,16837009,17614099,17979178,18022816,19595761,19633425,19638574,19638615,19710016,19718030,19730683,19737955,19801192,19802003,19805522,19812696,19825990,19881545,19917255,19953625,20086174,20159553,20230813,20302979,8332187,8332195,9069267,9144171,9765203,9808624,21048031,20679480 1580696,1580668,1626216,2293882,1357969,1580106,1302749 5894 NM_002880,NG_007467,AC018500,AC026170,AY271661,CH471055,EU332868,L00212,AK226028,AK303561,AK303920,AK312248,BC018119,BQ221862,BU683389,CR598160,CR608506,CR609564,CR616511,CR617502,DC342671,X03484,HI376400 NP_002871,AAP03432,EAW64134,EAW64135,ABY87557,AAA60247,BAG64584,BAG64848,BAG35180,AAH18119,CAA27204,P04049,CBX55729 Hs.159130 CRAF|NS5|Raf-1|c-Raf OTTHUMP00000207813|OTTHUMP00000209389|Oncogene RAF1|RAF proto-oncogene serine/threonine-protein kinase|murine leukemia viral (v-raf-1) oncogene homolog 1 (3611-msv)|proto-oncogene c-RAF|raf proto-oncogene serine/threonine protein kinase protein-coding 1605530 RAF1P1 v-raf-1 murine leukemia viral oncogene homolog 1 pseudogene 1 348910 NG_003018,AC006499 pseudo 1348923 RAF1P2 v-raf-1 murine leukemia viral oncogene homolog 1pseudogene 2 494550 1317876 RAG1 recombination activating gene 1 The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq] 1580863,1599402,1599403 20703256,20568250,20800603,20813000,9630231,17474147,19404965,19118899,19116388,19074885,18830263,18768869,18701881,18676680,18579371,18463379,18089566,17982069,17890453,17307402,17075247,16857995,16738334,16465622,16276422,16061569,15843554,15295705,15249552,14726805,14624253,14500629,12861017,12853125,12757263,12477932,12355431,12244173,12200379,12145704,12115231,11313270,11214319,11133745,11121059,10891452,10701853,10606976,10490593,9885222,9394797,9379036,9036966,8844221,8810255,8777717,8052633,8016130,2598259,1612612,1283330,19913121,20628086,20489056,19170196,19359154,19458910,19573080,19625176,19692168,19773279,19859091,19898481,20122409,20237496,20453000,20956421 1599402,1599403 5896 NM_000448,NG_007528,AC139427,AY011903,AY130302,CH471064,BC037344,M29474,HH794624 NP_000439,AAG38421,AAM77798,EAW68118,AAH37344,AAA60248,P15918,Q8IY72,Q9BYY2,CBX87169 Hs.73958,Hs.677010 MGC43321|RNF74 RAG-1|RING finger protein 74|V(D)J recombination-activating protein 1|recombination activating protein 1 protein-coding 1607017 RAG1AP1 recombination activating gene 1 activating protein 1 21107422,8630032,12477932,14991772,17207965 55974 NM_018845,NM_001122837,NM_001122839,AL691442,CH471121,CQ834326,CQ834328,AF126023,AF126024,AK289551,BC005943,BC009621,BC010869,BC012378,BC069245,BI711397,CR457148 NP_061333,NP_001116309,NP_001116311,CAI15321,CAI15322,CAI15323,CAI15324,EAW53127,EAW53128,EAW53129,EAW53130,CAH05378,CAH05379,AAF17232,AAF17233,BAF82240,AAH05943,AAH09621,CAG33429,Q5SR67,Q9BRV3,ADQ31652 Hs.292154 HsSWEET1|RAG1AP1|RP11-540D14.5|SCP|slv RAG1-activating protein 1|RZPDo834D038D|recombination activating gene 1 activating protein 1|stromal cell protein protein-coding 1313706 RAG2 recombination activating gene 2 This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq] 1580863,1599402,1599403 19404965,18463379,18089566,18033247,17982069,17476358,17075247,16344560,16111638,15949444,15843554,15489334,15295705,15249552,15025726,14726805,14624253,12897800,12861017,12757263,12477932,12355431,12200379,12145704,12115231,11214319,11134329,11123315,10892649,10891502,10601032,10330156,9885569,9760994,9742255,9630231,9036966,8810255,8521468,7963556,7774617,2360047,1832998,1428003,1283330,14530271,19359154,19573080,19773279,19859091,20234091,20237496,20568250,20813000 1599402,1599403 5897 NM_000536,NG_007573,AC139427,AY011962,CH471064,M94633,AF080577,AK292664,BC022397,BM457214,BM463455,DB142398,AW058148,DB146077,DB151960,DB165259,NR_033666 NP_000527,AAG38705,EAW68117,AAC35287,BAF85353,AAH22397,P55895,Q71UK1,Q9BYY1,ABM82938,ABM86127 Hs.725521,Hs.714519 RAG-2 V(D)J recombination-activating protein 2 protein-coding 1319529 RAGE renal tumor antigen 1580863 18519797,18279705,18179750,18079485,18058943,18058469,17987563,17924846,17661837,17549666,17405935,17345061,17224333,17218539,17172923,17035340,16969646,16954682,16788244,16440015,16305072,16159602,15986224,15942086,15915542,15900605,15896660,15803111,15798956,15790669,15748606,15704127,15666591,15599399,15547674,15489334,15327990,15052533,15019601,14704946,14702039,12777992,12606536,18029348,20726326,21067489,21067572,17587138,10421840,19420105,19285601,19248116,19133252,19060005,19023628,18685487,18638464,12477932,12477623,12206267,12190937,12070776,12029499,11811511,11586486,11457670,11375354,11334430,11282423,8781117,20732329,20817881,19913121,20628086,20668462,20093728,16928730,18788635,19542745,19604442,19757202,19766904,19822091,19834494,19890027,19902324,19924100,20023238,20040351,20051912,20185929,20353610,20359471,20410680 5891 AL352978,AL359402,CH471061,AB022694,AK094747,AK302349,AK312778,BC026069,BC043179,BC053536,CR592213,NM_014226,U46191,U46192,U46193,U46194,HH961882,AK094003 NP_055041,EAW81772,EAW81773,EAW81774,EAW81775,EAW81776,EAW81777,EAW81778,EAW81779,EAW81780,BAA81688,BAH13682,BAG35641,AAH26069,AAH43179,AAH53536,AAB38077,AAB38079,AAB38080,AAB38081,AAB38082,AAB38083,AAB38084,AAB38085,AAB38087,Q49A77,Q9UQ07,CBX51414 Hs.104119 MOK|RAGE1 MAPK/MAK/MRK overlapping kinase|MOK protein kinase|RAGE-1|renal cell carcinoma antigen (MOK protein kinase)|renal tumor antigen 1 protein-coding 1318304 RAI1 retinoic acid induced 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq] 1580863,1599405 19236431,17468296,17081983,16189514,15885892,15788730,15565467,15489334,12837267,12652298,12477932,11997338,11404004,11347906,10915763,10036180,20211142,20738874,20634891 1599405 10743 NM_030665,NG_007101,AC078903,AC122129,AJ271791,CH471196,AB058723,AJ230819,AJ271790,AL133649,AL834468,AL834486,AY172136,BC021209 NP_109590,CAC20424,EAW55692,EAW55693,EAW55694,EAW55695,EAW55696,BAB47449,CAC20423,CAB63768,CAD39127,CAD39144,AAO31738,AAH21209,Q7Z5J4 Hs.655395 DKFZp434A139|KIAA1820|MGC12824|SMCR|SMS Smith-Magenis syndrome chromosome region|retinoic acid-induced protein 1 protein-coding 1314269 RAI14 retinoic acid induced 14 16484223,19454037,20379614,17353931,16344560,16110356,15489334,15324660,14702039,12477932,11168586,11042181,10718198,16729964 26064 NM_015577,NM_001145522,NM_001145520,NM_001145525,NM_001145521,NM_001145523,AC016602,AC025754,AC026801,CH471119,AB037755,AF155135,AK023135,AK297964,AK308306,AK308455,AK314379,AL050011,AY317139,AY354204,BC028681,BC052988,DA485361,DB036130,DN994273 NP_056392,NP_001138994,NP_001138992,NP_001138997,NP_001138993,NP_001138995,EAW55898,BAA92572,AAF44722,BAG51161,BAG60275,CAB43236,AAP84319,AAQ63889,AAH52988,Q9P0K7 Hs.431400 DKFZp564G013|KIAA1334|NORPEG|RAI13 OTTHUMP00000221025|OTTHUMP00000221030|OTTHUMP00000221031|OTTHUMP00000221032|ankycorbin|ankyrin repeat and coiled-coil structure-containing protein|novel retinal pigment epithelial cell protein|retinoic acid-induced protein 14 protein-coding 1353493 RAI2 retinoic acid induced 2 Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined; however, it has been suggested to play a role in development. Localization of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked mental retardation, oral-facial-digital syndrome, and Fried syndrome. [provided by RefSeq] 1580863 10049581,16713569,16344560,16189514,15489334,14702039,12477932,10394933,15370543 10742 BC027937,CK902458,DA648693,AK314631,NM_021785,AF136587,AL008711,CH471074,Z93242,AK056214,AK298873,AI291859,DA377448,DC420191,DR005700,NG_016739,NM_001172732,NM_001172739,NM_001172743,NR_033348,NR_033349,Z93929,CR592976 BAG37196,AAH27937,Q9Y5P3,NP_068557,AAD33688,EAW98933,EAW98934,EAW98935,CAI42725,BAG51649,BAG60991,NP_001166203,NP_001166210,NP_001166214 Hs.446680 retinoic acid-induced protein 2 protein-coding 1343462 RAI4 retinoic acid induced 4 23453 1350109 RAI5 retinoic acid induced 5 22972 1354223 RALA v-ral simian leukemia viral oncogene homolog A (ras related) The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq] 1580863 2662142,8939933,1903399,11786539,11167825,12842888,2550440,7673236,11520933,10051605,10848592,19414599,19306925,18948269,18756269,17875936,17709381,17606711,17540176,17524504,17237388,17174914,16964283,16344560,16177825,15950903,15920473,15817490,15809419,15592429,15489334,15231748,15130921,14597674,14525976,12874025,12856001,12853948,12839989,12690205,12624092,12509462,12477932,12034722,11744922,11406615,10889189,10329639,9688545,9488663,9422736,9207251,9188503,7623849,3292391,19802010,19822090,19901077,20018811,20379614,9297626,20579884 5898 NM_005402,AC004837,CH236951,CH471073,AF086082,AF493910,AK026850,AK308109,AU132355,BC039858,CR600160,M29893,X15014 NP_005393,EAL23994,EAW94122,EAW94123,AAM12624,AAH39858,AAA36542,CAA33118,P11233 Hs.6906 MGC48949|RAL OTTHUMP00000207663|RAS-like protein A|Ras family small GTP binding protein RALA|ras-related protein Ral-A protein-coding 1351800 RALB v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq] 1580863 17606711,17018283,17174914,15817490,15489334,14525976,12874025,12856001,12477932,12034722,11744922,9422736,8972729,2662142,16189514,20940393,20801877,2120779,7673236,11520933,19306925,18756269,18227351,17875936,17709381,19166349,19636851,20379614,9297626 5899 NM_002881,AC012363,CH471103,AF493911,AK127675,AK303214,AK304588,AK312453,BC018163,BQ893549,BT006953,CR601386,CR606313,M35416,X15015 NP_002872,AAY14800,EAW95240,EAW95241,EAW95242,AAM12625,BAC87080,BAG64302,BAG65376,BAG35360,AAH18163,AAP35599,AAA60250,CAA33119,P11234,Q53T32,Q6ZS74 Hs.469820 GTP binding protein|OTTHUMP00000204385|OTTHUMP00000207264|RAS-like protein B|ras-related protein Ral-B protein-coding 737281 RALBP1 ralA binding protein 1 1580863,2324917 19375851,19626587,20183533,10924126,11437348,7673236,9753634,9422736,10848592,19417134,19073149,18628450,18474607,18086001,17993611,17982077,17706599,17081983,17047155,16890208,16227629,16189514,16188027,16087181,15707977,15489334,15451561,15310755,12775724,12632061,12632060,12527936,12477932,12433796,11882656,11732624,10910768,9395447,8570186,14525976,7623849,12621024,12887920,15592429,15247912,12888294 2324917 10928 NM_006788,AP005432,CH471113,AB209924,AK300845,AY517554,BC013126,BF794440,BQ224100,BQ674032,BX352266,CR616762,L42542 NP_006779,EAX01601,EAX01602,EAX01603,EAX01604,EAX01605,BAD93161,BAG62496,AAT44527,AAH13126,AAB00103,Q15311,Q59E87,Q5GJ68,ABM82530,ABW03389 Hs.723887,Hs.528993 RIP1|RLIP1|RLIP76 76 kDa Ral-interacting protein|DNP-SG ATPase|OTTHUMP00000162351|dinitrophenyl S-glutathione ATPase|ral-interacting protein 1|ralA-binding protein 1 protein-coding 1351009 RALGDS ral guanine nucleotide dissociation stimulator 1580863 9038168,8631302,8094051,7809086,10922060,10783161,15031288,9150145,15856025,9516482,9564038,7972015,9365783,11520933,18948269,18417737,17992125,17709381,16368877,16007223,15208305,14749388,14702039,12477932,12464615,12105416,11889038,11840339,11788587,11455956,10718198,10653898,10545207,10498616,10085114,9400994,9302994,9155018,19801192,9154803,9297626,20936779 5900 NM_001042368,NM_006266,AF295775,AF295776,AF295777,AF295779,AF295780,AL162417,CH471090,AB037729,AF027169,AF295773,AK000242,AK024575,AK056462,AK074114,AK090450,AK127524,AK293997,AK301470,BC021581,BC033198,BC040737,BC059362,BM805052,BY797688,U14417 NP_001035827,NP_006257,AAG10221,AAG10222,AAG10223,AAG10224,AAG10225,CAI13414,CAI13415,CAI13416,CAI13417,EAW88037,EAW88038,EAW88040,EAW88041,EAW88042,BAA92546,AAQ13414,AAG02122,BAG51718,BAB84940,BAC03431,BAC87018,BAH11646,BAH13489,AAH21581,AAH33198,AAH59362,AAA52360,Q12967,Q5T7U6,Q6KH11,Q6PCE1,Q6ZSD5,Q8N4Y1,Q8NF31,Q8TEK9,Q8WU11,Q9HAX8,Q9HAX9,Q9HAY0,EAW88039,ACT64399,ACT64400 Hs.106185 FLJ20922|RGDS|RGF|RalGEF ral guanine nucleotide dissociation stimulator|ral guanine nucleotide exchange factor protein-coding 1344179 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 19913121,20628086,16712791,15146197,16344560,16368877,20379614,12477932,10889189,10747847,9205841 9649 BY797926,CB162049,CN266562,DB332662,DB521440,DR001330,NM_001190728,NM_001190729,NM_001190730,CH471090,AB002349,AF221098,AK299149,BC019329,BC032372,BC033708,BX648170,NM_014636,AL160169,AL356862,AL357623,AL450263 NP_001177657,NP_001177658,NP_001177659,CAI41461,EAW87645,EAW87646,EAW87647,EAW87648,BAA20808,AAF65253,BAG61198,AAH19329,AAH32372,AAH33708,Q5JS12,Q5JS13,CAI41460,NP_055451,CAI40638,CAI40639,CAI40640,CAI40641,CAI40642,CAI40643,CAI40644,CAI39718,CAI39719,CAI39720,CAI39721,CAI39722,CAI39723,CAH72699,CAH72700,CAH72701,CAH72702,CAI41454 Hs.432842,Hs.606576,Hs.721343 KIAA0351|RALGEF2|RALGPS1A|RP13-225O21.1 OTTHUMP00000022162|Ral guanine nucleotide exchange factor RalGPS1A|RalGEF 2|ral GEF with PH domain and SH3-binding motif 1|ral guanine nucleotide exchange factor 2|ralA exchange factor RalGPS1|ras-specific guanine nucleotide-releasing factor RalGPS1 protein-coding 1323046 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 1580863 17353931,15324660,14702039,12485849,12477932,12102558,10747847,15778465 55103 AK001106,AK098470,AK301753,BC045691,BC047391,NM_152663,AL162255,AL355520,AL449106,CH471067 EAW91030,BAA91506,BAC05311,BAH13547,AAH47391,Q86X27,Q8N7G9,NP_689876,CAH71096,CAH71097,CAH71098,CAI21918,CAI21919,CAI21920,CAI21922,CAI21923,CAI21924,CAI21925,EAW91027,EAW91028,EAW91029 Hs.644008 FLJ10244|FLJ25604|KIAA0351|dJ595C2.1 OTTHUMP00000038515|Ral-A exchange factor RalGPS2|ral GEF with PH domain and SH3-binding motif 2|ralA exchange factor RalGPS2|ras-specific guanine nucleotide-releasing factor RalGPS2 protein-coding 1316295 RALY RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) In infectious mononucleosis, anti-EBNA-1 antibodies are produced which cross-react with multiple normal human proteins. The cross-reactivity is due to anti-gly/ala antibodies that cross-react with host proteins containing configurations like those in the EBNA-1 repeat. One such antigen is RALY which is a member of the heterogeneous nuclear ribonucleoprotein gene family. [provided by RefSeq] 1580863 16807684,16713569,15489334,12477932,11991638,11780052,10500250,9373149,8125298,7533788,16169070,9376072,17081983,19615732,20379614 22913 NM_016732,NM_007367,AL031668,AL034549,CH471077,AF148457,AK222915,AK226085,AK291054,AK291079,AK299766,BC103753,BC105018,CR595464,CR596021,CR596751,CR597090,CR599150,CR599587,CR600862,CR604151,CR606402,CR609461,CR611602,CR612346,CR613485,CR613686,CR614904,CR615132,CR615528,CR617105,CR620280,CR622300,CR623593,CR623780,CR625534,CR626461,CR626560,L38696,CR603257 NP_057951,NP_031393,CAB43742,CAI22146,CAI22147,CAI22148,CAI22149,CAI22150,EAW76287,EAW76288,EAW76289,EAW76290,EAW76291,AAF04487,BAD96635,BAF83743,BAF83768,BAG61653,AAI03754,AAI05019,AAC28898,Q53GL6,Q5QPL9,Q5QPM1,Q5QPM2,Q9UKM9 Hs.136947 HNRPCL2|MGC117312|P542 OTTHUMP00000030678|RNA binding protein (autoantigenic, hnRNP-associated with lethal yellow)|RNA-binding protein (autoantigenic)|RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)|RNA-binding protein Raly|autoantigen p542|heterogeneous nuclear ribonucleoprotein C-like 2|hnRNP associated with lethal yellow protein homolog|hnRNP core protein C-like 2|rna binding protein (autoantigenic, hnrnp-associated with lethal yellow) protein-coding 1606457 RALYL RALY RNA binding protein-like 19447967,16344560,16189514,14702039,12688537,12477932,9110174,8619474,17207965 138046 CR624367,NM_001100392,NM_001100393,NM_173848,NM_001100391,AC009901,AC012400,AC027043,AC087368,AC092699,AC092709,AC103816,CH471068,AF070623,AF495529,AF495530,AK094543,AK095026,AK095560,AK123437,BC031090,CR596538,DA143105,DN989439 NP_001093862,NP_001093863,NP_776247,NP_001093861,EAW87116,EAW87117,EAW87118,AAO85516,AAO85517,BAG52885,BAG52973,BAG53084,BAC85617,AAH31090,Q86SE5,ADQ31634 Hs.121663 HNRPCL3 RNA-binding Raly-like protein|hRALYL|heterogeneous nuclear ribonucleoprotein C-like 3|hnRNP core protein C-like 3 protein-coding 735949 RAMP1 receptor (G protein-coupled) activity modifying protein 1 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. [provided by RefSeq] 1580863 11535606,11060459,10385705,10354609,9620797,18725456,18593822,18240900,18198792,17785463,17493758,17310067,16912219,15613468,15489334,15300632,15245870,14722252,12684503,12574158,12565884,12477932,12446722,12419522,12234182,12093471,11973435,11937264,11847213,11754963,11733510,11693189,12036966,18039931,18240029,19710695,20100989,20188075 10267 NM_005855,AC012076,AC016776,CH471063,AI017108,AJ001014,AY265457,BC000548,BM126103,CR542032,CR542044,CR621253 NP_005846,AAY14674,AAY24219,EAW71127,CAA04472,AAP23298,AAH00548,CAG46829,CAG46841,O60894,Q53SN3,Q53T50,ABM82831,ABM86017 Hs.471783 CRLR activity-modifying protein 1|calcitonin receptor-like receptor activity modifying protein 1|calcitonin-receptor-like receptor activity-modifying protein 1|receptor (calcitonin) activity modifying protein 1|receptor activity modifying protein 1|receptor activity-modifying protein 1 protein-coding 735315 RAMP2 receptor (G protein-coupled) activity modifying protein 2 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq] 61729,704370,1642684,1642701,1642678,1625300,1642679,1642682,1625307,1642683,1625319,1642686,1580863 19913121,20628086,10882736,9620797,18835256,18593822,17671114,16912219,16531504,16410241,15613468,15489334,15300632,15245870,12565884,12477932,12446722,12419522,12093471,11973435,11754963,11591721,11387328,11060459,10767413,10354609,10217420,14722252,12036966,18577758,18240029,19210874,20074556 61729,704370,1642684,1642701,1642678,1625300,1642679,1642682,1625307,1642683,1625319,1642686 10266 NM_005854,AC100793,CH471152,AJ001015,AL548945,AY265458,BC027975,CR590147,CR621805,EF687002 NP_005845,EAW60877,EAW60878,CAA04473,AAP23299,AAH27975,ABS28868,O60895,ABM84247,ABM87635 Hs.514193 CRLR activity-modifying protein 2|calcitonin receptor-like receptor activity modifying protein 2|calcitonin-receptor-like receptor activity-modifying protein 2|receptor (calcitonin) activity modifying protein 2|receptor activity modifying protein 2|receptor activity-modifying protein 2|receptor-activity-modifying protein 2 protein-coding 737378 RAMP3 receptor (G protein-coupled) activity modifying protein 3 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq] 1580863 10882736,9620797,18835256,18593822,16912219,16410241,15805108,15613468,15489334,15342556,15300632,14702039,14615490,12939163,12853948,12690205,12565884,12477932,12446722,12419522,12093471,11973435,11693189,11591721,11387328,11060459,10385705,10354609,9373149,8125298,16169070,14722252,20034525,19913121,20628086,18577758,17207965,12036966,18240029,19886671 10268 NM_005856,AC004844,AC013416,CH236960,CH471128,AJ001016,AK128765,AK222469,AK311871,AY265459,BC022304,BC053852,BP347072,CR592589 NP_005847,EAL23743,EAW61048,EAW61049,EAW61050,CAA04474,BAD96189,BAG34812,AAP23300,AAH22304,AAH53852,O60896,Q53HW1,ABM82297,ADQ33063 Hs.25691 CRLR activity-modifying protein 3|OTTHUMP00000214279|OTTHUMP00000214280|calcitonin receptor-like receptor activity modifying protein 3|calcitonin-receptor-like receptor activity-modifying protein 3|receptor (calcitonin) activity modifying protein 3|receptor activity modifying protein 3|receptor activity-modifying protein 3|receptor-activity-modifying protein 3 protein-coding 1348006 RAN RAN, member RAS oncogene family RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules. RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq] 4144860 15014887,16428596,17158748,19435463,19549784,19559616,19596235,19753112,19765287,19851984,20028979,20081840,7882974,7988569,9111043,7615630,11932251,12649209,20942967,20732906,20819778,1961752,7878053,10400640,15572661,8421051,10408446,7603572,9405152,9837918,19389996,19208764,19138993,19060893,19047128,18845677,18708071,18690538,18617507,18591255,18565325,18347012,18287525,18268099,18266911,18241036,11777942,11774384,11571268,11447110,11425870,11420673,11310559,11290418,11042152,10944119,10786834,10779340,10679025,10567585,10518602,10397761,10394366,10369786,10353245,10318915,10209022,10202161,10078529,10037787,10022920,9822603,9817760,9660920,9637251,9562972,9533885,9368653,9323134,9323133,9219684,9214382,9135132,9114010,9045717,8757804,8692944,8643389,8576188,7891706,7885480,7744835,2108320,1855255,1602151,8146159,15522285,12070164,10811801,9102465,11336674,16169070,10508170,11782423,14592989,8896453,10367892,8896452,7627554,18205094,18003734,17761537,17671426,17426026,17081065,16930555,16807353,16572426,16572176,16449645,16428860,16368437,16294017,15761153,15691838,15635413,15632149,15592455,15574332,15574331,15489334,15383276,15014043,14758368,14684163,14675621,14612415,14600264,14585972,14500717,12477932,12415012,12384575,12211070,12194828,12176322,12138183,12134013,12101123,12051861,11809816,11779226,20547757,20585341,20721975,9802899,19454010 4144860 5901 AAB24940 NM_006325,AC073912,CH471054,AB062399,AF052578,AF054183,AF501887,AK300934,AK312466,AK316193,AL357616,BC000852,BC004272,BC014518,BC014901,BC016654,BC022813,BC051908,BC072000,BT007271,CR450347,CR592005,CR600935,CR603594,CR605512,CR605944,CR606066,CR606799,CR609365,CR609528,CR612374,CR615819,CR621609,CR622422,CR623285,M31469,CR598832 NP_006316,EAW98515,EAW98516,EAW98517,BAB93486,AAC05840,AAC99400,AAM15923,BAG62563,BAG35373,BAH14564,AAH04272,AAH14518,AAH14901,AAH16654,AAH51908,AAH72000,AAP35935,CAG29343,AAA36546,AAB24940,P62826,ABM83284,ABM86491 Hs.10842 ARA24|Gsp1|TC4 GTP-binding nuclear protein Ran|GTPase Ran|OK/SW-cl.81|OTTHUMP00000166078|OTTHUMP00000166102|RanGTPase|androgen receptor-associated protein 24|guanosine triphosphatase Ran|member RAS oncogene family|ras-like protein TC4|ras-related nuclear protein protein-coding 1321469 RANBP1 RAN binding protein 1 Ran/TC4-binding protein, RanBP1, interacts specifically with GTP-charged RAN. RANBP1 encodes a 23-kD protein that binds to RAN complexed with GTP but not GDP. RANBP1 does not activate GTPase activity of RAN but does markedly increase GTP hydrolysis by the RanGTPase-activating protein (RanGAP1). The RANBP1 cDNA encodes a 201-amino acid protein that is 92% similar to its mouse homolog. In both mammalian cells and in yeast, RANBP1 acts as a negative regulator of RCC1 by inhibiting RCC1-stimulated guanine nucleotide release from RAN. [provided by RefSeq] 1580863 21046638,7616957,7882974,17353931,16130169,19270727,17940066,16428860,15461802,15459234,14702039,14585972,12840069,12477932,10779340,11804793,10811801,10330396,9373149,9111043,8255297,8125298,7891706,10601307,10473610,19549784,20508983 5902 NM_002882,AC006547,CH471176,AK097659,AK223506,AK293502,BC071998,CR456556,CR590513,D38076,X83617 NP_002873,EAX02986,EAX02987,EAX02988,EAX02989,EAX02990,EAX02991,EAX02992,EAX02993,EAX02994,BAG53504,BAD97226,BAG56987,CAG30442,BAA07269,CAA58592,P43487,Q53EY3,AAI52786,CAK54587,CAK54886 Hs.24763 HTF9A|MGC88701 OTTHUMP00000198444|OTTHUMP00000198445|ran-binding protein 1|ran-specific GTPase-activating protein protein-coding 1343804 RANBP10 RAN binding protein 10 14702039,14684163,12477932,12421765,12147692,10819331,20395553,18347012,16498413 57610 NM_020850,AC010530,AC040162,CH471092,AB040897,AK000686,AK055634,AK055727,AY337313,BC099917,BC121176,BC121177,CR606759,AK295171,AK295530,AK298806,AK304030 NP_065901,EAW83167,EAW83168,BAA95988,BAG51561,AAR01220,AAH99917,AAI21177,AAI21178,Q6VN20,BAG58181,BAG58442,BAG60941,BAG64944 Hs.368569 FLJ31165|KIAA1464 ran-binding protein 10 protein-coding 1345238 RANBP17 RAN binding protein 17 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM] 1580863 11024021,14702039,11071879,19913121,20628086,12477932 64901 NM_022897,AC008514,AC010306,AC016574,AC018753,AC021077,AC091980,CH471062,AF222747,AJ271459,AJ288952,AJ288953,AJ288954,AJ288955,AK027880,AK057478,AK315159,AL832980,BC030953,DC365649,AK298785 NP_075048,EAW61454,EAW61455,EAW61456,EAW61457,EAW61458,EAW61459,EAW61460,EAW61461,EAW61462,EAW61463,EAW61464,AAG44255,CAC81055,CAC81806,CAC81807,CAC81808,CAC81809,BAB55427,BAB71504,CAH56326,Q546R4,Q658U9,Q8IU74,Q8IVM9,Q96M10,Q9H2T7,AAI48560,BAG60924 Hs.410810 FLJ32916 ran-binding protein 17 protein-coding 1351414 RANBP2 RAN binding protein 2 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq] 1580863 7603572,16332688,17353931,18394993,12228227,19171422,19118815,18946085,18691615,18305100,18080148,20473521,17887960,17168522,17081983,17069463,16964243,16688858,16620772,16586133,16565220,15931224,15826666,15815621,15608651,15388847,15378033,15302935,15144186,15037602,12963708,12393906,12192048,12191015,12138183,12032081,11854305,11792325,11709548,11553612,11353387,11266456,10601307,10473610,10318915,10078529,9733766,9480752,9398662,9244446,9144189,9114010,9037092,9019411,8857542,7882974,7775481,7724562,7559465,10601273,15632063,17098863,17911097,19299463,19305391,19654215,19807769,19811512,19828735,20085707,20936779 5903 NG_012210,AC010095,L41840,AA971491,AB209483,AK025462,AK025711,AK026993,AY170822,D42063,DB525378,U19240,U19248,NM_006267 NP_006258,AAY14984,AAC41758,BAD92720,AAO13594,BAA07662,AAA85837,AAA85838,P49792,Q13073,Q5JC45,Q5JC46 Hs.199561,Hs.715056 ANE1|NUP358|TRP1|TRP2 358 kDa nucleoporin|E3 SUMO-protein ligase RanBP2|OTTHUMP00000203472|P270|nuclear pore complex protein Nup358|nucleoporin 358|nucleoporin Nup358|ran-binding protein 2|transformation-related protein 2 protein-coding 1352244 RANBP20P RAN binding protein 20 pseudogene 326627 NG_002609,AL163636 pseudo 1313698 RANBP3 RAN binding protein 3 This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 9637251,11932251,17353931,19289081,18280241,17081983,16341674,15489334,15057824,14702039,14612415,12477932,11571268,11425870,9373149,8889548,8125298,12176322,11256614 8498 NM_007322,NM_007320,AC004602,AC005784,AC093050,CH471139,AK025300,AK125183,AK222813,AK222990,AK299260,AK299856,AK301942,AK308205,AK314343,AL050149,BC004349,BM786367,CB306615,CR590146,CR591841,CR593954,CR594790,CR604730,CR605996,CR606736,CR612902,CR616491,DQ234346,Y08697,Y08698,Y08699,NM_003624 NP_003615,NP_015561,NP_015559,AAC14485,EAW69120,EAW69121,EAW69122,EAW69123,EAW69124,BAB15106,BAD96710,BAH12980,BAH13150,BAH13589,BAG36985,CAB43293,AAH04349,ABB29975,CAA69956,CAA69957,CAA69958,O75761,Q308M8,Q53GE1,Q9H6Z4 Hs.531752 DKFZp586I1520 RAN-binding protein-3|ran-binding protein 3 protein-coding 1602423 RANBP3L RAN binding protein 3-like 12477932 202151 NM_145000,NM_001161429,AC008807,AC114277,CH471119,AK058151,AK302947,BC017951,BC047660 NP_659437,NP_001154901,EAW55942,EAW55943,EAW55944,BAB71689,BAH13852,AAH47660,Q86VV4 Hs.199777 FLJ25422 OTTHUMP00000221399|OTTHUMP00000221400|ran-binding protein 3-like protein-coding 1313031 RANBP6 RAN binding protein 6 1580863 16344560,15489334,15164053,14702039,12477932 26953 NR_024094,NR_024095,NM_012416,AL162384,CH471071,AF039023,AI568841,AK001982,AK300408,BC012805,BC019838,BC037423,BC098406,BX537405,CR601099,DA234653,DC334669,DC342914 NP_036548,CAI12713,EAW58753,AAC14260,BAG62138,AAH12805,AAH98406,CAD97647,O60518 Hs.167496 FLJ54311 Ran-GTP binding protein|ran-binding protein 6 protein-coding 1344686 RANBP9 RAN binding protein 9 This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq] 12684061,12559565,12477932,12361945,12226704,12147692,12084015,12082530,11470507,10471364,17353931,16000162,15606899,12470648,12800254,20403074,20936779,18298663,12917623,14648869,15231748,15604093,17087506,17148452,19251705,19615732,19729516,19996306,20085707,9817760,12220523,12421467,14500717,18801335,18710924,18455188,18040864,17467196,16595702,16478441,16364241,15964779,15558019,15489334,15381419,14722085,14574404,14511641,12812986,20395553 10048 AL441883,CH471087,Z93020,AB008515,AB055311,AF064606,AF306510,AK313334,BC019886,BC052781,BC053374,BC063849,NM_005493 NP_005484,CAI19841,EAW55341,EAW55342,EAW55343,EAW55344,EAW55345,CAI21594,BAA23216,BAB62525,AAC17111,AAK15469,BAG36138,AAH19886,AAH52781,AAH63849,O60738,Q96S59 Hs.708182 BPM-L|BPM90|RANBPM|RanBP7 Ran Binding Protein in the Microtubule organizing center|novel centrosomal protein RanBPM|ran binding protein, centrosomal|ran-binding protein 9|ran-binding protein M protein-coding 1321254 RANGAP1 Ran GTPase activating protein 1 RanGAP1, is a homodimeric 65-kD polypeptide that specifically induces the GTPase activity of RAN, but not of RAS by over 1,000-fold. RanGAP1 is the immediate antagonist of RCC1, a regulator molecule that keeps RAN in the active, GTP-bound state. The RANGAP1 gene encodes a 587-amino acid polypeptide. The sequence is unrelated to that of GTPase activators for other RAS-related proteins, but is 88% identical to Fug1, the murine homolog of yeast Rna1p. RanGAP1 and RCC1 control RAN-dependent transport between the nucleus and cytoplasm. RanGAP1 is a key regulator of the RAN GTP/GDP cycle. [provided by RefSeq] 1580863 15576338,17148452,17363900,17643375,19615732,19748360,7878053,17000644,17353931,8978815,18706886,17081983,16620772,16565220,16428860,15931224,15489334,15461802,15355965,15302935,12477932,12192048,11854305,11853669,11347906,10591208,10394366,9920803,9556629,9442102,9019411,8973340,8146159,7744835,12924945,18691969,9219684,9214382,12419228,15546615 5905 NM_002883,AL035681,CH471095,AB058738,AK302222,AK303524,BC004990,BC014044,BC019676,BC041396,BC048990,BM551472,CR456557,CR595421,CR597202,CR599804,CR615880,X82260 NP_002874,CAB63073,EAW60420,EAW60421,EAW60422,EAW60423,EAW60424,BAB47464,BAG63578,BAG64552,AAH04990,AAH14044,AAH19676,AAH41396,CAG30443,CAA57714,P46060,Q8WUS7,Q9BSK3,CAK54588,CAK54887 Hs.183800 Fug1|KIAA1835|MGC20266|SD OTTHUMP00000198756|OTTHUMP00000198757|ran GTPase-activating protein 1|segregation distorter homolog|segregation distortion protein-coding 1602892 RANGRF RAN guanine nucleotide release factor 18184654,12477932,11733047,11290418,11042152,10811801,15146197 29098 AC135178,CH471108,AF151070,AF161514,AF168714,AF265205,AF265206,AK290399,BC006486,BC012552,BC100017,CR457206,CR749387,NM_016492,AA659738,CN396019,NM_001177801,NM_001177802 NP_057576,EAW90064,EAW90065,EAW90066,AAF36156,AAF29129,AAF87316,AAG01291,AAG01292,BAF83088,AAH06486,AAH12552,AAI00018,CAG33487,CAH18237,Q9HD47,NP_001171272,NP_001171273 Hs.408233 DKFZp686F02139|HSPC165|HSPC236|MGC110973|MOG1|RANGNRF MOG1 homolog|ran guanine nucleotide release factor|ran-binding protein MOG1 protein-coding 1346292 RANP1 RAN, member RAS oncogene family pseudogene 1 16702430,10557312,20237496 221547 NG_002749,AB014080,AB088093,AB103599,AL662822,AL662873,AL844213,BA000025,BX927143,BX936369,CR762481 BAC54924,BAF31259,BAB63329,Q0EFC9,Q96QB7 Ras-like|TC4 pseudo 1352228 RAP1A RAP1A, member of RAS oncogene family The product of this gene belongs to the family of RAS-related proteins. These proteins share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between RAP proteins and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. The product of this gene counteracts the mitogenic function of RAS because it can interact with RAS GAPs and RAF in a competitive manner. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 15711749,15374886,11429608,10777492,11022048,16284401,19464664,19176753,19098287,19001122,18948674,18832707,18809728,18805968,18789886,18625726,18487435,18390735,18172027,17954608,17716979,17702895,17517894,17487743,17382517,17300802,17068197,16963453,16888288,16820412,16751380,16716258,16710414,16540189,16219685,16118622,15725075,15677455,15661741,15657046,15613546,15601837,15591041,15569673,15489334,15479739,15302884,15254236,15064832,15031297,15031288,14757755,14607972,14576067,14551137,13679863,12891710,12845325,12590145,12477932,12464615,12444546,12393539,12393469,12221082,12091396,12082090,11880369,11788600,11786539,11335720,10926822,10922060,10224125,10085114,9882515,9867809,9285558,8756332,8449039,7791872,3144274,3143720,3141412,3045729,2108841,1899909,1312373,11524421,10934204,10777494,11466412,9523700,12842888,12147258,15854902,11948427,10454553,7862125,11980706,12581858,12874025,15469846,15856025,2642744,2507536,20547757,8631894,10608844,10608883,14702343,15207703,16005629,16581250,17215244,17540176,19638416,19710505,19763083,20048162,20339002,20548944,2158984,2164710,9069267,9115221,9560161 5906 NM_002884,A08691,AL049557,AL139012,CH471122,AB051846,AB451235,AB451360,AF493912,AK293044,BC014086,BI460853,NM_001010935,BT019666,BU150941,CR597469,CR623933,M22995,X12533 NP_001010935,NP_002875,CAA00804,CAB55685,CAI22712,EAW56503,BAB61868,BAG70049,BAG70174,AAM12626,BAF85733,AAH14086,AAV38472,AAA36150,CAA31051,P62834,Q5U0C3,ACE87154,ACE86473 Hs.190334 KREV-1|KREV1|RAP1|SMGP21 C21KG|G-22K|GTP-binding protein smg p21A|OTTHUMP00000013742|RAS-related protein RAP1A|Ras-related protein Krev-1|ras-related protein Rap-1A protein-coding 1353984 RAP1AP RAP1A, member of RAS oncogene family pseudogene 8449039 5907 NG_004799,AC005479 KREV1P|SMGP21A pseudo 736930 RAP1B RAP1B, member of RAS oncogene family RAP1B and RAP1A (MIM 179520) belong to a superfamily of RAS (see MIM 190020)-like small GTP-binding proteins involved in cell signaling.[supplied by OMIM] 11256614,16005629,16581250,17318188,18309292,19651783,19864456,8332187,16357324,16118622,15863506,15489336,15489334,15078882,14702039,13679863,12665801,12477932,12407113,12089143,11994301,11258948,11230166,11076863,9488663,8939933,8524240,7803284,3141412,3137530,2123345,2105724,1696481,15141215,16381901,18948674,18842593,18805968,18660803,18625726,18582561,20139978 5908 NM_015646,NM_001010942,A08693,AC015550,CH471054,EF581377,AA809981,AB062128,AF279894,AF493913,AJ420497,AK127392,AK298818,AK301401,AK301428,AK312371,AK316447,AK316543,AL080212,BC000176,BC078173,BC095467,BG717530,BT020093,CR407689,CR607068,CR612227,X08004 NP_056461,NP_001010942,CAA00805,EAW97189,EAW97190,EAW97191,EAW97192,EAW97193,ABQ52130,BAB93460,AAK07551,AAM12627,BAG60950,BAG62936,BAG62956,BAG35289,BAH14818,BAH14914,CAB45777,AAH00176,AAH78173,AAH95467,AAV38896,CAG28617,CAB46488,P61224,Q9BXV4,CAL38121 Hs.369920 DKFZp586H0723|K-REV|RAL1B GTP-binding protein smg p21B|OTTHUMP00000165028|RAS-related protein RAP1B|Ras family small GTP binding protein RAP1B|ras-related protein Rap-1b|small GTP binding protein protein-coding 1320507 RAP1GAP RAP1 GTPase activating protein 1580863 1904317,18029348,19433443,19147557,19074885,19066305,18940312,18551404,18483282,17954608,17646383,17300802,16436672,16424023,16341674,15725075,15657046,15479739,15342556,15254236,15141215,14660640,14607972,12891710,12590145,12477932,12464615,12198116,12171996,12082090,10593970,10476970,9455484,9346962,8939933,8275700,1406653,12842888,11278445,16169070,18309292,20124489,10854065,20439492 5909 NM_001145657,NM_001145658,AL359815,CH471134,AB003930,NM_002885,AB007943,AI827348,BC035030,BC054490,BM739021,BP200029,BP283134,CR612391,CV574545,M64788 NP_002876,NP_001139129,NP_001139130,CAI16250,CAI16253,CAI16254,CAI16255,CAI16257,CAI16258,EAW94979,EAW94980,EAW94981,EAW94982,EAW94983,EAW94984,EAW94985,EAW94986,BAA83674,BAA32319,AAH35030,AAH54490,AAA60252,P47736,Q49AP2,Q5T3S6,Q5T3T0,Q5T3T1,Q7Z5S8,ACE87268,ACE86585 Hs.148178 KIAA0474|RAP1GA1|RAP1GAP1|RAP1GAPII|RAPGAP OTTHUMP00000008712|RAP1, GTPase activating protein 1|rap1 GTPase-activating protein 1|rap1, gtpase activating protein 1 protein-coding 1318400 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 1580863 1549351,17951244,16189514,14702039,14615375,12690117,12477932,20029029,20936779,11948427,8900189,8262526,19260141,19546222,20190816,20209136 5910 NM_021159,NM_001100428,NM_001100430,NM_001100427,NM_001100429,AC019077,AC058823,AC078961,CH471057,AF215923,AF237413,AI800264,AK055032,AK295156,AK297543,AK311243,AY376900,BC001816,BC001851,NM_001100426,BC098269,BC098334,BC099708,BC099845,BT006837,CR615990,DC367998,X63465 NP_001093896,NP_066982,NP_001093898,NP_001093900,NP_001093897,NP_001093899,EAX06068,EAX06069,EAX06070,EAX06071,EAX06072,AAF32290,AAF43211,BAG51452,BAH11994,BAH12611,AAQ85126,AAH01816,AAH01851,AAH98269,AAH98334,AAH99708,AAH99845,AAP35483,CAA45067,P52306,Q499L7,Q4QQI8,Q6U7G8,Q9BUX6,ABM81687 Hs.132858 GDS1|MGC118859|MGC118861|SmgGDS SMG GDS protein|SMG P21 stimulatory GDP/GTP exchange protein|exchange factor smgGDS|rap1 GTPase-GDP dissociation stimulator 1 protein-coding 1348992 RAP2A RAP2A, member of RAS oncogene family 1580863 1900290,18930710,3045729,18789886,18701680,17918750,17716979,16963453,16540189,16344560,16246175,15761153,15752761,15489334,15342639,15057823,15031288,14966141,14702039,12581858,12477932,12444546,11857081,11524421,10926822,10862698,10777494,10591105,10224125,10085114,9523700,9312017,8424780,11786539,15451670,19645719,19061864 5911 A08695,AL442067,CH471085,AF205602,NM_021033,AF493914,AK090533,AK094586,AK315139,BC022356,BC041333,BC047495,BC070031,CB215818,DA493957,DB480985,X12534 NP_066361,CAA00806,CAI39499,EAX08974,AAN71845,AAM12628,BAG37588,AAH41333,AAH70031,CAA31052,P10114,ACE87566,ACE86878 Hs.508480 K-REV|KREV|RAP2|RbBP-30 RAP2, member of RAS oncogene family (K-rev)|ras-related protein Rap-2a protein-coding 736861 RAP2B RAP2B, member of RAS oncogene family This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq] 2118648,18582561,17316888,15613030,15489334,12477932,12444546,11877431,11786539,10085114,8424780,8391995,8356055,3045729,2115998,10934204,16189514,20471030,19913121,20628086,10608883 5912 NM_002886,AC117394,CH471052,AF493915,AL713766,BC012362,BF965860,X52987 AAH12362,NP_002877,EAW78771,AAM12629,CAI46163,CAA37178,P61225,Q5JQ44,ABM82628 Hs.98643 MGC20484 Ras family small GTP binding protein RAP2B|ras-related protein Rap-2b|small GTP binding protein protein-coding 1353605 RAP2C RAP2C, member of RAS oncogene family 737633,1580863 17447155,16213650,15772651,15489334,12477932 737633 57826 NM_021183,AL049792,CH471107,Z78022,AK124801,AK310997,AL049685,AL832461,AY298955,BC003403,BC035382,BC051467,BX647223 NP_067006,EAX11782,EAX11783,CAI42719,BAG54098,CAB41256,AAP55684,AAH03403,Q9Y3L5,ACE87465,ACE87511,ACE86779,ACE86825 Hs.119889 DKFZp313B211 OTTHUMP00000024037|ras-related protein Rap-2c protein-coding 731405 RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq] 15138850,15077165,14702039,14551197,12734187,12697763,12477932,12384139,12054111,11870224,11466412,11309621,10608804,10514505,10318861,9546424,9498705,9497377,9482107,9374471,9344843,9178909,9067577,8662907,8621483,8524240,7959692,11167825,10753869,9820532,15856025,9748234,7512734,16284401,7806500,19324082,19297053,18832707,18809728,18660489,17825818,17456239,17081983,16681758,15320955,15144186,20936779,20581864,17474147,19001122,20190816,20379614,20416077,8978305,9069267 2889 NM_005312,NM_198679,AL160271,AL160276,CH471090,AF467069,AJ420417,AK023727,AK023760,AK302763,BC041710,BG429001,BG546427,BQ054243,BQ772947,CR595928,CR749354,D21239,DQ925677,DQ925678,DQ925679,DQ925680,DQ925681,DQ925682,DQ925683,DQ925684 NP_005303,NP_941372,CAI13381,CAI13382,CAI13383,CAI40645,CAI40646,CAI40647,CAI40649,CAI40651,EAW87985,EAW87986,AAP97718,BAG63974,AAH41710,CAH18207,BAA04770,ABL59904,ABL59905,ABL59906,CAI40650,ABL59907,ABL59908,ABL59909,ABL59910,ABL59911,Q13905,Q5JUE6,Q68DL3,Q7Z4P7,Q8IV73,ACE87852,ACT64379 Hs.127897 C3G|DKFZp781P1719|GRF2 CRK SH3-binding GNRP|OTTHUMP00000022419|OTTHUMP00000022420|OTTHUMP00000022423|c3g protein|guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)|rap guanine nucleotide exchange factor 1 protein-coding 1315047 RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM] 1580863 10934204,10608883,17724123,16344560,10873669,7809086,15146197,12477932,12196628,12107413,11799111,10608844,10548487,9205841,9110174,8619474,20936779 9693 NM_014247,AC074344,AC095064,AC105316,CH471056,CQ772997,AB002311,AF070570,AL117397,BC110355,BC117321,BP386101,BU620827,CR621095,DA188103,AK294459 NP_055062,AAY40909,EAX04847,EAX04848,CAF33926,BAA20772,CAB55899,AAI17322,Q17RH5,Q4W5Q4,Q9UFT5,Q9Y4G8,BAG57693 Hs.723853 CNrasGEF|NRAPGEP|PDZ-GEF1|PDZGEF1|RA-GEF|Rap-GEP|nRap GEP PDZ domain containing guanine nucleotide exchange factor (GEF) 1|PDZ domain-containing guanine nucleotide exchange factor 1|RA(Ras/Rap1A-associating)-GEF|neural RAP guanine nucleotide exchange protein|rap guanine nucleotide exchange factor 2 protein-coding 1351216 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 632397,1580863 19464664,19307216,19273589,19022848,18728186,18648773,18580452,18495799,18434542,18421013,18323524,18202100,18172027,18064650,18032709,17993585,17895245,17884339,17599964,17565009,17284589,17203972,17068197,16940330,16914720,16880999,16754664,16751380,16728394,16344560,16115630,15601837,15591041,15545605,15489334,15374886,15319437,15302884,15274052,15202935,15146197,14702039,14615375,12783872,12707263,19475578,12574122,9853756,10777494,12469113,12384139,12000763,11801596,9856955,9110174,8619474,15856025,15166221,20729327,20732872,20855527,12477932,19403523,19546222,19564576,19582788,20032304,19657062,19710505,19725049,19920825,20038525,20054824,9789079,20547757,20663796 632397 10411 NM_001098531,NM_006105,NM_001098532,AC004241,CH471111,AF103905,AK055502,AK074444,AK092448,AK125545,AK290230,AK299029,AK308079,BC017728,BC040534,BC068477,BC092404,BQ007070,CN294139,DA340363,DA529158,DA629958,DB179165,DB278856,U78168,U78169,U79275,CS416349 NP_001092001,NP_006096,NP_001092002,EAW57944,EAW57945,EAW57946,EAW57947,EAW57948,EAW57949,AAC83381,BAG51527,BAG54212,BAF82919,BAH12932,AAH17728,AAH92404,AAD12740,AAD02890,AAB50216,O95398,Q569L6,Q99777,ABM82487,ABM85674,CAL48169 Hs.8578 CAMP-GEFI|EPAC|EPAC1|HSU79275|MGC21410|bcm910 9330170P05Rik|EPAC 1|OTTHUMP00000165032|Rap1 guanine-nucleotide-exchange factor directly activated by cAMP|cAMP-regulated guanine nucleotide exchange factor I|exchange factor directly activated by cAMP 1|exchange protein directly activated by cAMP 1|rap guanine nucleotide exchange factor 3 protein-coding 1351048 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 632397,1580863 9856955,11438518,10777494,19401682,19086053,18854429,18495799,17284589,16713569,15489334,15202935,14660679,14593429,12477932,12469113,12384139,11707077,11598134,11056535,8889548,15856025,20595579,20663796,19553663,19598235,20200953,20233795,20379614,9789079 632397 11069 AK296340,AK302732,AK304278,AK310373,AK311165,AK311500,AK311575,AK311697,AK313084,AK316014,AK316072,BC024004,BC040183,BI546558,BQ184791,DB471672,U78516,NM_001100397,AC009484,AC018712,AC019046,AC104086,CH471058,AB027471,AB075513,AB209681,AK294433,AK294445,AK294914,AK294997,AK295002,NM_007023 BAH12322,BAH13791,BAH14148,BAG35910,BAH14385,BAH14443,AAH24004,AAH40183,AAD03422,Q3LIA9,Q53QY2,Q53TH3,Q59EY0,Q8WZA2,ABM92166,ABM84937,NP_008954,NP_001093867,AAY15071,AAY24186,EAX11167,EAX11168,EAX11169,BAB72179,BAE45759,BAD92918,BAH11764,BAH11769,BAH11923,BAH11944,BAH11946 Hs.470646 CAMP-GEFII|CGEF2|EPAC2|Nbla00496 EPAC 2|OTTHUMP00000205058|RAP guanine-nucleotide-exchange factor (GEF) 4|cAMP-regulated guanine nucleotide exchange factor II|exchange factor directly activated by cAMP 2|exchange protein directly activated by cAMP 2|putative protein product of Nbla00496|rap guanine nucleotide exchange factor 4 protein-coding 1343059 RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM] 1580863 10486569,10934204,17903292,15489334,15342556,12690205,12477932,10777494,9039502,15856025,20379614 9771 NM_012294,AC005079,AL833229,CH236948,AA732485,AA815190,AA890636,AK295859,AL833195,AW511225,BC039203,BF512545,BP349215,D87467,DN996625,W56891,CH471073 NP_036426,EAL24270,BAG58663,CAI46177,AAH39203,BAA13406,Q5JPD2,Q92565,EAW93746 Hs.174768,Hs.713217 GFR|KIAA0277|MR-GEF|REPAC M-Ras-regulated GEF|M-Ras-regulated Rap GEF|OTTHUMP00000201874|guanine nucleotide exchange factor for Rap1|rap guanine nucleotide exchange factor 5|related to Epac protein-coding 1316955 RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 15324660,16192288,17081983,11524421,19176753,18804346,18718982,18585005,20800573,17030554,16344560,15302935,14702039,12581858,12477932,12095257 51735 AF085846,BC144627,BU568060,BX117281,BX649095,DA817493,NM_001164386,NM_001164387,NM_001164388,NM_001164389,NM_001164390,AC004227,AC004622,AC008497,AC008695,AC026754,CH471062,AF394782,AF478468,AF478469,AF478567,AK056296,AK074318,NM_016340,AK302640,AL832899,AV726501,AW204176,BC133703,BC140820,BC142964 AAI42965,AAI44628,O43386,Q8TEA3,Q8TEU7,Q9UHV4,NP_057424,NP_001157858,NP_001157859,NP_001157860,NP_001157861,NP_001157862,AAC04379,EAW62366,EAW62368,AAK83368,AAL79915,AAL79916,AAM21637,BAB85049,BAH13767,AAI33704,AAI40821 Hs.483329 DKFZp667N084|DKFZp686I15116|KIA001LB|PDZ-GEF2|PDZGEF2|RA-GEF-2|RAGEF2 OTTHUMP00000222522|OTTHUMP00000222523|OTTHUMP00000222526|OTTHUMP00000222527|OTTHUMP00000222532|PDZ domain containing guanine nucleotide exchange factor (GEF) 2|PDZ domain-containing guanine nucleotide exchange factor 2|PDZ domain-containing guanine nucleotide exchange factor I|rap guanine nucleotide exchange factor 6 protein-coding 1347798 RAPGEFL1 Rap guanine nucleotide exchange factor (GEF)-like 1 1580863 9582122,9789079,12477932 51195 AK304160,NM_016339,AC068669,CH471152,AF117946,AK294642,AK313492,BC029956,BC115374,BC115375 BAH14121,NP_057423,EAW60645,EAW60646,EAW60647,AAF22003,BAG57820,BAG36274,AAI15375,AAI15376,Q9UHV5 Hs.727653 Link-GEFII|MGC134798|MGC134799 Link guanine nucleotide exchange factor II|RAP guanine-nucleotide-exchange factor (GEF)-like 1|link GEFII|rap guanine nucleotide exchange factor-like 1 protein-coding 1318125 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 19000833,18076380,15815621,15642358,15609301,15586368,15469845,15302935,14702039,14506234,11586298,11214970,18029348 65059 NM_213589,NM_203365,AC018891,CH471063,AB051468,AB053311,AB053320,AF086189,AI217860,AJ584699,AK022729,AK095976,AK096270,AY494951,AY523977,AY523978,BE967038,BU620816 NP_998754,NP_976241,AAY14676,EAW70344,EAW70345,EAW70346,BAB21772,BAB69020,CAE48361,BAC04744,AAS82582,AAS16935,AAS16936,Q70E73,Q8N8R9,AAI56183,AAI56923 Hs.471162 ALS2CR18|ALS2CR9|KIAA1681|LPD|PREL2|RMO1|RalGDS/AF-6 OTTHUMP00000206258|OTTHUMP00000208081|OTTHUMP00000208082|OTTHUMP00000208083|OTTHUMP00000208084|OTTHUMP00000208085|OTTHUMP00000208086|OTTHUMP00000208087|OTTHUMP00000208088|PREL-2|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein|lamellipodin|proline rich EVH1 ligand 2|proline-rich EVH1 ligand 2|ras-associated and pleckstrin homology domains-containing protein 1 protein-coding 1314835 RAPSN receptor-associated protein of the synapse This protein belongs to a family of proteins that are receptor associated proteins of the synapse. It contains a conserved cAMP-dependent protein kinase phosphorylation site. It is believed to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Two splice variants have been identified for this gene. [provided by RefSeq] 1580863 8812503,19620612,18179903,16931511,16280586,15489334,15482960,15328566,15282317,15252722,15036330,14504330,12929188,12807980,12796535,12730725,12651869,12477932,12388596,11791205,11342559,11323662,10859577,10477765,9856458,9804166,9520483,9136771,7619516,18420419,19549727 5913 NM_032645,NM_005055,NG_008312,AC090559,CH471064,AF449218,AK310002,BC004196,Z33905 NP_116034,NP_005046,EAW67914,EAW67915,AAL86639,AAH04196,CAA83954,Q13702 Hs.81218 CMS1D|CMS1E|MGC3597|RNF205 43 kDa receptor-associated protein of the synapse|43 kda postsynaptic protein|RING finger protein 205|acetylcholine receptor-associated 43 kda protein|rapsyn|receptor-associated protein of the synapse, 43kD|receptor-associated protein of the synapse, 43kd protein-coding 733999 RARA retinoic acid receptor, alpha Retinoid signaling is transduced by 2 families of nuclear receptors, retinoic acid receptor (RAR) and retinoid X receptor (RXR; see MIM 180245), which form RXR/RAR heterodimers. In the absence of ligand, DNA-bound RXR/RARA represses transcription by recruiting the corepressors NCOR1 (MIM 600849), SMRT (NCOR2; MIM 600848), and histone deacetylase (see MIM 601241). When ligand binds to the complex, it induces a conformational change allowing the recruitment of coactivators, histone acetyltransferases (see MIM 603053), and the basic transcription machinery. Translocations that always involve rearrangement of the RARA gene are a cardinal feature of acute promyelocytic leukemia (APL; MIM 612376). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (MIM 102578) (Vitoux et al., 2007 [PubMed 17468032]).[supplied by OMIM] 1580863,2314289,2314291,1600902 19965660,20080953,20133701,20133705,20155840,20185965,20190807,20346360,11353774,12665583,15254248,15336696,15604093,16456540,16778766,17195188,18024792,18845237,18922886,19128831,19322209,19458357,19465599,19626135,19628791,19732752,19799861,19828696,19850744,19855079,19884280,19902255,19917671,19937600,9445475,9267036,9115274,9005841,8616895,8562957,8302850,8244378,8051161,7566127,2899875,2825036,2218500,2175878,2170850,1652369,1347744,1311253,1310351,12612084,11158331,10823961,9256429,14581481,8887632,12052862,1314167,10610177,10336495,9531570,8650544,7705655,12943985,12874288,12039952,15308690,9920895,15729358,9238002,16424870,16417524,16368877,16344560,16341674,16311697,16289102,16239915,16203797,16189514,16113082,16085646,15870697,15839736,15809060,15808511,15746941,15674337,15635645,15601827,15489334,15337793,15255287,15249124,15246741,15171703,14737102,14705796,14702039,14691372,14592536,14559998,14521715,12935958,12935927,12835288,12810556,12691149,12549917,12505266,12482873,12477932,12468549,12420222,12403842,12399530,12393611,12235159,12213824,12193472,12138096,12101409,12080444,12060771,12009305,12000751,11971969,11929748,11891284,11812818,11574675,11439184,11382777,11358960,11331609,11274148,11106752,11014615,10938104,10882117,10882070,10872826,10866662,10860982,10786636,10760302,10698945,10617585,10611353,10567404,10531331,10480874,10454579,10361124,10337631,10207062,10022764,9795230,9773978,9717844,9653119,9642262,9632709,9628876,9491782,12805378,20543827,20736163,19863682,20804918,17712046,19345331,9288109,19377461,2825025,15831516,18416830,17538076,19563758,19341714,19224461,19173001,19144697,19106195,19100514,19029980,18996102,18660489,18636556,18305945,18212063,18180299,18000064,17993618,17991421,17960617,17943164,17761950,17656367,17628022,17611697,17595318,17560333,17475621,17468032,17456381,17451432,17272867,17272513,17252005,17244680,17005281,16797070,16769902,16728697,16713569,16630218,16606617,16540467,16504291,16480812,16449642,16432238,20159609,20159610,19913121,20544846,20572854,20628086,20634891,15670742,18978041,20211142,20574048,16712791 2314289,2314291,1600902 5914 NM_001145302,NM_001145301,NM_001024809,AC080112,AF088895,AF283809,CH471152,X56058,AK098172,AK130192,AK292205,AK303868,AK312564,AL522713,AL834159,BC008727,BC071733,BG394590,BM838347,BY799725,CR457438,NM_000964,CS542437,CR600029,CR619304,DA541711,FJ487576,S50916,X06538,X06614,X58685,BM992549,CB105313,DA061829,NG_027701 NP_000955,NP_001138774,NP_001138773,NP_001019980,AAD05222,AAF87249,EAW60652,EAW60653,EAW60654,EAW60655,EAW60656,EAW60657,EAW60658,CAA39533,BAG53585,BAF84894,BAG64806,BAG35459,CAH56277,AAH08727,AAH71733,CAG33719,CAM91168,ACK86665,AAB19602,CAA29787,CAA29829,CAA41532,P10276,Q658K5,Q6I9R7,ABM84457,ABM84670 Hs.654583 NR1B1|RAR OTTHUMP00000164457|RAR-alpha|Retinoic acid receptor, alpha polypeptide|nuclear receptor subfamily 1 group B member 1|nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long form|retinoic acid receptor alpha|retinoic acid receptor, alpha polypeptide protein-coding 737497 RARB retinoic acid receptor, beta This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. The gene expresses at least two transcript variants; one additional transcript has been described, but its full length nature has not been determined. [provided by RefSeq] 1580863 12789467,12665583,12579317,12576329,12554770,12529350,12477932,12399530,12191570,12124324,12118004,12009305,11980632,11945179,11925591,11839665,11834837,11769677,10411930,10198169,9005841,8950166,8754792,8612722,8383553,8275470,7628539,3014347,2844650,2836738,2825037,2177841,2170809,2153268,1663808,1379266,20211142,20606036,2833708,19258476,19127267,19081515,18996102,18957410,18852534,18825962,18783461,18673301,18663751,18547710,18538349,18519826,18483325,18349282,18271925,18254975,18212063,18166136,18058812,18036402,17900311,17804711,17686773,17615267,17556535,17549354,17252005,17244680,17195188,17065567,17001699,16858683,16613851,16478744,16389900,16288117,16287870,16255778,16244585,16134180,16128742,15635645,15604252,15502323,15489334,15467435,15383624,15375805,15361842,15255287,15231748,15217932,15217922,15014026,14726690,14726683,14691372,14614007,14601057,12839965,12839938,12805409,1332705,1331778,1321662,9817600,7705655,15688037,20496080,19913121,20374520,20602615,20628086,20634891,15604093,18845237,19221469,19258542,19345331,19469866,19553259,19618401,19657672,19809523,19828754,19829046,19880879,19902255,19940364,19961602,20346360,20379614,20508731,7565739,20571967 5915 NM_000965,NM_016152,AC093416,AC098477,AC133141,CH471055,M57445,M96023,X04014,X56849,X77664,AB307688,AF157483,AK292032,AK299756,AY501390,BC030234,BC050415,BC060794,CR536558,CR621137,DQ083391,X07282,Y00291,CS542441 NP_000956,NP_057236,EAW64354,EAW64355,AAA58728,CAA27637,CAA54740,BAH02279,AAD45688,BAF84721,BAG61645,AAS85757,AAH50415,AAH60794,CAG38795,AAZ32403,CAA30262,CAA68398,P10826,Q15299,Q3SB16,Q5QHG3,Q6FHY0,Q86UC5,CAM91170 Hs.719896 HAP|NR1B2|RRB2 HBV-activated protein|OTTHUMP00000208326|RAR-beta|RAR-epsilon|hepatitis B virus activated protein|nuclear receptor subfamily 1 group B member 2|retinoic acid receptor beta|retinoic acid receptor beta 2|retinoic acid receptor beta 4|retinoic acid receptor beta 5|retinoic acid receptor, beta polypeptide protein-coding 735465 RARG retinoic acid receptor, gamma 1580863 14603262,15604093,16456540,17195188,18845237,19416972,19416983,19732752,19902255,20133701,20346360,8301142,7685085,7501014,2546152,2172793,2157210,1849262,1655630,1320193,1318502,1310259,10336495,10318855,11641790,14657503,20420906,10428834,2157970,18484682,18438858,17943189,19563758,18996102,18685608,17325034,17252005,16344560,15839736,15734736,15635645,15489334,15383624,14705796,14691372,12665583,12554770,12477932,12399530,12220491,12189556,11855864,9865725,9852056,9501913,9491782,9083083,19913121,20602615,20628086,20634891,17574023,19345331 5916 NM_000966,NM_001042728,AC021072,AC073573,AF319970,AJ250835,AY013703,AY013704,CH471054,X57280,AB307689,AK290588,AK297023,AK297110,AK297277,AK297801,AK301057,AK316259,AL701206,BC019098,BC064524,BC072462,BC093727,BC093729,BC098421,CO394652,CR593723,CR613580,DA552724,L12060,M24857,M32074,M38258,M57707,CS542443 NP_000957,NP_001036193,AAK07421,CAB60726,AAG41594,AAG41595,EAW96676,EAW96677,EAW96678,CAA40548,BAH02280,BAF83277,BAH12478,BAH12500,BAH12537,BAH12670,BAH13399,BAH14630,AAH93727,AAH93729,AAA52692,AAA60253,AAA60254,AAA63254,P13631,Q9BZI0,CAM91171 Hs.1497 NR1B3|RARC OTTHUMP00000045736|RAR-gamma|nuclear receptor subfamily 1 group B member 3|retinoic acid receptor gamma protein-coding 1319886 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq] 1580863 9270552,18029348,8601727,16134180,16128742,15489334,15059893,14691453,12477932,11929948,16341674,19250291,19737656,19806788,19834535 5918 NM_206963,NM_002888,AC080013,CH471052,AK130079,AW514087,BC029640,BM919188,CR595342,CR603753,U27185 NP_996846,NP_002879,EAW78675,EAW78676,AAH29640,AAA99722,P49788,ABM82259,ABM84293,ABM85442,ABM87683 Hs.131269 TIG1 OTTHUMP00000213562|OTTHUMP00000213563|RAR-responsive protein TIG1|retinoic acid receptor responder protein 1|tazarotene-induced gene 1 protein protein-coding 1320450 RARRES2 retinoic acid receptor responder (tazarotene induced) 2 This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine, and is truncated on both termini from the proprotein. [provided by RefSeq] 1580863 9204961,19470637,19443732,19303973,19114666,19010784,18955196,18794339,18242188,17767914,17635925,16096270,15972683,15728234,15489334,14702039,14675762,14530373,20601896,19714754,12853948,12690205,12477932,10072769,9270552,20601676,19558533,20375212,19543554,19720798,19837789,19898481,20095887,20237162,20822885 5919 NM_002889,AACC02000108,AC005586,CH471173,AB015632,AK092804,AK312197,BC000069,BM919890,BX448753,CR541992,CR542026,CR591132,CR601678,CR604348,CR616556,U77594 NP_002880,EAL24473,AAS00384,EAW54120,EAW54121,BAA76499,BAG35130,AAH00069,CAG46789,CAG46823,AAB47975,Q7LE02,Q99969 Hs.647064 HP10433|TIG2 OTTHUMP00000212798|OTTHUMP00000212799|OTTHUMP00000212800|RAR-responsive protein TIG2|chemerin|retinoic acid receptor responder protein 2|tazarotene-induced gene 2 protein protein-coding 1342575 RARRES3 retinoic acid receptor responder (tazarotene induced) 3 Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq] 1580863 16005186,19615464,9843971,19245694,18174256,17762858,17196792,16344560,15856468,15850806,15846304,15742394,16306043,15489334,12879006,12477932,11078805,10955811,10687848,9270552,9204961,19017631,18948594,12928434,19913121,20588308,20628086 5920 AP001591,CH471076,AB030815,AB453252,AF060228,AF092922,AK293357,AK312110,BC009678,DA973023,R55646,NM_004585 ABM82370,ABM85548,NP_004576,EAW74156,BAB08109,BAH22446,AAC84000,AAF02294,BAG56873,BAG35046,AAH09678,Q9UL19 Hs.17466 HRASLS4|MGC8906|PLA1/2-3|RIG1|TIG3 RAR-responsive protein TIG3|retinoic acid receptor responder protein 3|retinoic acid-inducible gene 1|retinoid-inducible gene 1 protein|tazarotene-induced gene 3 protein protein-coding 1319432 RARS arginyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq] 1580863 17353931,7590355,18029348,17443684,16344560,16055448,15489334,12665801,12477932,10913161,10801842,10358004,9878398,9556618,9373149,8889548,8125298,6530022,1651330,562050,20877624,11714285,8052601,8078941,8188258,8449960,9278442,20923763 5917 NM_002887,AC020894,CH471062,AK222797,AK302161,AK314795,AU125370,BC000528,BC014619,BM984528,BT007394,CA439316,CR606014,CR608263,CR615478,CR616753,CR619064,S80343 NP_002878,EAW61507,BAD96517,BAG63528,BAG37326,AAH00528,AAH14619,AAP36058,AAB35627,P54136 Hs.654907 ArgRS|DALRD1|MGC8641 arginine tRNA ligase 1, cytoplasmic|arginine--tRNA ligase|arginyl-tRNA synthetase, cytoplasmic protein-coding 1313439 RARS2 arginyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq] 737633 17353931,17847012,16344560,15779907,15489334,14702039,14574404,12477932,20877624 737633 57038 NM_020320,NG_008601,AL049697,AL451126,CH471051,AF143874,AK023550,AK093934,AK315669,BC010420,BC022341,BC105784,CA415020,CR611793,CR625441,DA607375 NP_064716,CAI20376,CAI10898,CAI10899,EAW48584,EAW48585,EAW48586,EAW48587,EAW48588,EAW48589,EAW48590,EAW48591,BAB14608,BAG38034,AAH10420,Q5T160,Q9UHS7 Hs.485910 ArgRS|DALRD2|MGC14993|MGC23778|PCH6|PRO1992|RARSL|dJ382I10.6 arginine--tRNA ligase|arginine-tRNA ligase|arginyl-tRNA synthetase-like|probable arginyl-tRNA synthetase, mitochondrial protein-coding 732468 RASA1 RAS p21 protein activator (GTPase activating protein) 1 The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq] 1581296,737716,1580863,1300048 20610402,21173776,20676106,7628625,7642582,7544435,3201259,2833817,2574500,2307479,2172781,2164710,2123878,1850098,1717825,1633149,1544885,1383690,1347942,1336372,1331107,11389730,12091389,8647858,10822173,9743338,1545818,1512257,1385407,10769036,1689011,7689724,2173144,8890167,11331873,11116152,11071635,10899172,10799545,10790433,10713673,10708762,10697503,10669731,10644995,10571081,10508618,10319320,10200531,10187839,10092539,9674711,9632780,9603468,9564850,9233798,9219684,9218456,9174053,9169421,9079622,9034330,9008161,8955277,8798684,8766817,8663024,8570203,8537347,8395016,8384556,8360177,8275088,8270251,8155326,8137811,8084603,8006063,7782336,7760813,7691175,2122974,2188736,8618896,1553544,2157284,2176151,1581965,8344248,15542850,9113414,2821624,19151751,19012001,18784923,18761085,18446851,18363760,18327598,18024870,16971514,16051609,16046410,15917201,15713673,15688026,15592455,15504032,15489334,15187129,15121898,15041706,15010862,14639529,12730241,12730209,12679785,12477932,12441060,12112020,11976319,11896619,11847220,11786539,11751853,11604231,11536198,11350068,20592250,20688547,20702649,10428862,15077193,17412687,1756860,19435801,19578876,19773259,19786546,19843518,7537265,8649363,20007727 1581296,737716 5921 NM_002890,NM_022650,NG_011650,AC010410,AC018754,AC035142,AC126776,CH471084,AB209106,AK300263,AK300269,AK300406,AK312739,BC020761,BC033015,BC054891,BC070063,BC107870,CR749722,M23379,M23612 NP_002881,NP_072179,EAW95931,EAW95932,EAW95933,BAD92343,BAG62024,BAG62030,BAG62136,BAG35610,AAH20761,AAH33015,AAH54891,CAH18488,AAA52517,AAA35865,P20936,Q05CU5,Q59GK3,Q68CU6,Q7Z4M2 Hs.664080 CM-AVM|CMAVM|DKFZp434N071|GAP|PKWS|RASA|RASGAP|p120GAP|p120RASGAP GTPase-activating protein|OTTHUMP00000222392|OTTHUMP00000222393|ras GTPase-activating protein 1|ras p21 protein activator 1|triphosphatase-activating protein protein-coding 735538 RASA2 RAS p21 protein activator 2 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member has a perinuclear localization and is an inositol 1,3,4,5-tetrakisphosphate-binding protein; a compound suggested to function as a second messenger. [provided by RefSeq] 1580863 18029348,8812506,10074452,9382842,8917095,8699317,9796816,14530271 5922 NM_006506,AC010184,AC092977,CH471052,D78156,D82881,AB209161,AF115573,AK292016,AK301015,D78155,D82880 NP_006497,EAW78998,EAW78999,BAA11231,BAA11622,BAD92398,AAD09821,BAF84705,BAG62632,BAA11230,BAA11621,Q15283,Q59GE8,AAI72285,AAI72578 Hs.655941 GAP1M GTPase-activating protein of RAS|ras GTPase-activating protein 2 protein-coding 1343935 RASA3 RAS p21 protein activator 3 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This family member is an inositol 1,3,4,5-tetrakisphosphate-binding protein, like the closely related RAS p21 protein activator 2. The two family members have distinct pleckstrin-homology domains, with this particular member having a domain consistent with its localization to the plasma membrane. [provided by RefSeq] 1580863 7637787,10828023,19433443,15592455,14702039,12477932,12356770,11350068,10869341,10049724,9382842,7782336,7691175,2158984 22821 NM_007368,AL161774,BX537329,CH471085,AK128094,AK289746,AK294913,AK295861,AK313795,BC038456,BC047242,X89399 NP_031394,CAI12864,CAM28365,EAX09232,EAX09233,EAX09234,BAF82435,BAH11922,BAH12205,AAH38456,AAH47242,CAA61580,Q14644 Hs.593075 GAP1IP4BP|GAPIII|MGC46517|MGC47588 GAP1(IP4BP)|GTPase activating protein III|Ins(1,3,4,5)P4-binding protein|inositol 1,3,4,5-tetrakisphosphate-binding protein|ins P4-binding protein|ras GTPase-activating protein 3 protein-coding 1319785 RASA4 RAS p21 protein activator 4 This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11448776,16344560,16009725,15489334,14702039,12853948,12477932,11594756,9628581,16169070 10156 NM_001079877,NM_006989,AC004084,AC093668,AC105052,CH471128,AB011110,AK026441,AK093486,AK302370,AK308653,AK310176,AK315928,BC110873,BC113663,BC143584,BC143585,BG289308,BQ890546,CR609509,CR622652,DA028746,DA841834,DB114101 C9J798,NP_001073346,NP_008920,AAB97935,AAP22345,EAW61133,BAA25464,BAG63692,BAH14299,AAI10874,AAI13664,AAI43585,O43374,Q2NL74,ADR83403 Hs.530089,Hs.696339 CAPRI|FLJ59070|GAPL|KIAA0538|MGC131890|RASA4B Ca2+-promoted Ras inactivator|OTTHUMP00000216454|OTTHUMP00000216455|Putative Ras GTPase-activating protein 4B|calcium-promoted Ras inactivator|ras GTPase-activating protein 4|rasGAP-activating-like protein 2 protein-coding 2306251 RASA4B RAS p21 protein activator 4B 11448776,9847074 100271927 AK301666,AC093668,XM_003118596,XM_003118597,XM_003118598,XM_003118599,XM_003118600,XM_003119052,XM_003119053,XM_003119054,XM_003119055,XM_003119056 BAG63140,XP_003118644,XP_003118645,XP_003118646,XP_003118647,XP_003118648,XP_003119100,XP_003119101,XP_003119102,XP_003119103,XP_003119104 Hs.530089 FLJ50902 OTTHUMP00000024897|OTTHUMP00000213282|OTTHUMP00000213285|RAS p21 protein activator 4B protein-coding 1323476 RASAL1 RAS protein activator like 1 (GAP1 like) The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. [provided by RefSeq] 1580863 9751798,18992247,17640920,16009725,15489334,12477932,12221082,11230166,15960973 8437 NM_004658,AC089999,CH471054,AB208935,AF086713,AK294350,AK309562,BC014420,BC093724,BC143258,BC143261,BC143262,AL136672,NM_001193520,NM_001193521 NP_004649,EAW98031,EAW98032,EAW98033,EAW98034,EAW98035,EAW98036,EAW98037,BAD92172,AAD09006,BAG57617,AAH14420,AAH93724,AAI43262,O95294,Q59H24,CAB66607,ABM83241,ABW03486,ACE87737,ACE87055,NP_001180449,NP_001180450 Hs.528693 RASAL GAP1 like protein|RAS-GTPase-activating protein-like|rasGAP-activating-like protein 1 protein-coding 1316836 RASAL2 RAS protein activator like 2 This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 20571754,9877179,19079260,18633578,17081983,16710414,15324660,14743216,14702039,12477932,9455484,8889548,20816195 9462 NM_170692,NM_004841,AL035702,AL160281,AL365357,AL499617,CH471067,BC063442,BC078167,BC110611,BM973231,AA127237,AB007970,AB209789,AF047711,AK000981,AK022662,AK075169,AK127614,AK290308,AK311017,AV706305,BC030292,BC041045 NP_733793,NP_004832,CAI21910,CAI21911,CAI21912,CAH71462,CAI22692,CAI22693,CAH72349,EAW91017,EAW91018,EAW91019,AAH41045,AAH63442,AAH78167,AAI10612,Q2TB22,Q59EM2,Q5TFV0,Q6P4F9,Q8IW42,Q9UJF2,BAD93026,AAD04814,BAF82997 Hs.496139,Hs.715627 MGC129919|NGAP OTTHUMP00000213597|RAS protein activator-like 2|Ras GTPase activating protein-like|Ras protein activator like 1|ras GTPase-activating protein nGAP protein-coding 2302537 RASAL3 RAS protein activator like 3 16344560,14702039,12477932,20936779 64926 NM_022904,AC011492,AK024488,AK025091,AK122587,AL832868,BC030281,CR595796,DA994945 NP_075055,BAB15778,BAB15064,BAC56928,AAH30281,Q86YV0 Hs.136979 DKFZp667E013|FLJ00087|FLJ21438 RAS protein activator like-3 protein-coding 731548 RASD1 RAS, dexamethasone-induced 1 This gene encodes a Ras-related protein that is stimulated by dexamethasone. The exact function of this gene is unknown, but it may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. In addition, studies of a similar rat protein suggest that it functions as as a novel physiologic nitric oxide (NO) effector. The gene product belongs to the Ras superfamily of small GTPases. [provided by RefSeq] 10471929,10840027,10673050,18922798,17985234,17167088,16489124,16381901,16225846,16189514,15489336,15489334,15184869,12818426,12498886,12477932,11997338,11842095,11086993,11076863,10947988,9452419,19549772 51655 AC073621,AF222979,AF262018,NM_016084,CH471196,AF069506,AF153192,AF172846,AF177335,AF498923,AK312796,BC018041,BC042688,CR596563,AK294073,NM_001199989,NG_028074 NP_057168,AAG44256,AAF72997,EAW55705,AAD34206,AAD34621,AAF01364,AAG17979,AAM21071,BAG35656,AAH18041,Q9HC43,Q9Y272,CAL37859,CAL38036,CAL38592,BAG57415,NP_001186918 Hs.25829 AGS1|DEXRAS1|MGC:26290 activator of G protein signaling|activator of G-protein signaling 1|dexamethasone-induced Ras-related protein 1|dexras1 (dexras1)|ras-related protein protein-coding 1346276 RASD2 RASD family, member 2 This gene encodes a Ras-related protein that enriched in striatum. The product of this gene binds to GTP and possesses intrinsic GTPase activity. The gene belongs to the Ras superfamily of small GTPases. The exact function of this gene is unknown, but most striatum-specific mRNAs characterized to date encode components of signal transduction cascades. [provided by RefSeq] 704350,1580863 11976265,18029348,19255495,18815223,18571626,17556863,16945334,15761153,15489334,15461802,14724584,12477932,10947988,10591208,10467249 704350 23551 NM_014310,AL022334,CH471095,AF279143,AL831936,BC013419,CR456477 NP_055125,CAI21838,EAW60064,AAG00868,AAH13419,CAG30363,Q96D21,CAK54458,CAK54757,ABM83672,ABM86960 Hs.474711 MGC:4834|Rhes|TEM2 GTP-binding protein Rhes|Ras homolog enriched in striatum|tumor endothelial marker 2 protein-coding 1315020 RASEF RAS and EF-hand domain containing 737633,1580863 18385040,14702039,12477932 737633 158158 NM_152573,AL499602,CH471089,AK056176,AK290986,BC023566 NP_689786,CAH70678,CAH70679,EAW62643,EAW62644,BAF83675,AAH23566,Q8IZ41 Hs.657750 FLJ31614|RAB45 RAB45, member RAS oncogene family|RAS and EF hand domain containing|ras and EF-hand domain-containing protein|ras-related protein Rab-45 protein-coding 1314108 RASGEF1A RasGEF domain family, member 1A 737633,1580863 17121879,15829955,15759212,14702039,12477932,19196962,19645719 737633 221002 NM_145313,AC068707,CH471160,AK095136,AK127432,BC022548 NP_660356,EAW86590,EAW86591,BAC04491,BAG54503,AAH22548,Q8N9B8 Hs.125293 CG4853|FLJ37817 CG4853 gene product|OTTHUMP00000019481|ras-GEF domain-containing family member 1A protein-coding 1348873 RASGEF1B RasGEF domain family, member 1B 1580863 19645719,14702039,18391951,12488504,12477932 153020 NM_152545,AC006287,AC093618,AC093747,CH471057,AK056257,AK291459,AK303625,BC036784,BC121003,BC121004,BX648337 NP_689758,AAY41054,AAY40982,EAX05869,BAB71130,BAF84148,BAG64633,AAH36784,AAI21004,AAI21005,Q0VAM2,Q8N437 Hs.591696 FLJ31695|GPIG4|MGC46251 GPI gamma-4|GPI-gamma 4|OTTHUMP00000219221|ras-GEF domain-containing family member 1B protein-coding 1323065 RASGEF1C RasGEF domain family, member 1C 737633,1580863 14702039,12477932,16169070,8889548 737633 255426 NM_175062,AC104115,AC122713,CH471165,AF449764,AK093160,BC036802,BC057759,BF967301,BM729117 NP_778232,EAW53769,EAW53770,EAW53771,AAP97676,BAC04079,AAH36802,AAH57759,Q8N431 Hs.190559 FLJ35841 OTTHUMP00000161522|ras-GEF domain-containing family member 1C protein-coding 1344062 RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 10373510,11756498,12376548,12384139,12538592,12787561,14622581,15513915,17389601,19678938,19692568,20031603,1379731,12775420,9543386,12531897,9154803,10882715,11533041,11500497,10918068,17611684,17030618,16969075,16855028,16344560,14749369,14702039,12477932,12095702,10681520,10220378,9384379,7828890,7684828,7637786,20835236 5923 NM_001145648,NM_002891,NM_153815,AC011944,AC104231,CH471136,AF370414,AK092325,AK226101,AK290135,AK301205,AK309047,AL109674,AL109675,AL355696,AL359931,BC040275,DA126882,L26584,M91815,S62035 NP_001139120,NP_002882,NP_722522,EAW99141,EAW99142,AAQ15250,BAF82824,BAH13432,AAH40275,AAA58417,AAB26881,Q13972,Q71RC4,Q8IUU5 Hs.459035 CDC25|CDC25L|GNRP|GRF1|GRF55|H-GRF55|PP13187 Ras-specific guanine nucleotide-releasing factor, CDC25 homolog|Ras-specific nucleotide exchange factor CDC25|guanine nucleotide exchange factor|guanine nucleotide-releasing factor 1|guanine nucleotide-releasing factor, 55 kD|guanine nucleotide-releasing protein|ras-GRF1|ras-specific guanine nucleotide-releasing factor 1 protein-coding 69460 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 RAS (MIM 190020) GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. Guanine-nucleotide exchange factors (GEFs), such as RASGRFs, stimulate the conversion of the GDP-bound form into the active form.[supplied by OMIM] 1580863 17353931,17923690,16596198,14749369,14702039,12477932,11856323,10373510,9707409,9032266,9027497,11756498,12376548,12787561,14622581,18029348,19692568,20011522,20379614 5924 NM_006909,AC020901,AC026427,CH471084,CQ834808,AF023130,AF181250,AK094809,AL598102,BC126112,BC136296,BC143870,CR749239 NP_008840,EAW95863,CAH05619,AAB80953,AAD55268,AAI26113,AAI36297,CAH18095,O14827,Q68DX5 Hs.162129 DKFZp781H1715|GRF2|RAS-GRF2 OTTHUMP00000222350|guanine nucleotide-releasing factor 2|ras guanine nucleotide exchange factor 2|ras-specific guanine nucleotide-releasing factor 2 protein-coding 69137 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq] 633848,1580863 9582122,9789079,17353931,19100522,19058789,18840781,18760455,18711365,17878389,17702895,17658605,17576779,17283063,17190838,16344560,15829980,14583629,12845332,12477932,11257115,10087292,20670164,19465406,19960345 633848 10125 NM_005739,NM_001128602,AC116158,AC124306,CH471125,AA742351,AB208848,AF081195,AF081197,AF106071,AK295097,AK314091,AK316067,AY634315,AY858556,AY954625,AY966005,BC032849,BC067298,BC109296,BC109297,BU431038,DA993002,NG_023268 NP_005730,NP_001122074,EAW92372,BAD92085,AAC79699,AAF21898,AAC97349,BAG58133,BAG36786,BAH14438,AAT47482,AAW32406,AAX54699,AAX76907,AAH67298,AAI09297,AAI09298,O95267,ACE87777,ACT64443 Hs.591127 CALDAG-GEFI|CALDAG-GEFII|MGC129998|MGC129999|RASGRP|V|hRasGRP1 RAS guanyl nucleotide-releasing protein 1|RAS guanyl-releasing protein 1|calcium and DAG-regulated guanine nucleotide exchange factor II|guanine nucleotide exchange factor, calcium- and DAG-regulated, Rap1A|ras activator RasGRP|ras guanyl releasing protein 1 protein-coding 1323188 RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated) The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 633848,1580863 10918068,9789079,16344560,14702343,14702039,12477932,12239348,11503142,11292831,9341881,16169070,20606303 633848 10235 NM_153819,NM_001098670,NM_001098671,NG_007574,AP001462,CH471076,CQ979233,AF043722,AF043723,AF081194,AK092852,AK092882,AK122694,AK124023,AK314637,BC110306,BC117151,CR601768,DA286186,DB498812,U78170,Y12336 NP_722541,NP_001092140,NP_001092141,EAW74281,EAW74282,EAW74283,CAI45372,AAF07219,AAF07220,AAC79698,BAG52620,BAG53672,BAG37199,AAI10307,AAI17152,AAD12741,CAA73005,Q2YDB1,Q7LDG7,ADR83220 Hs.99491 CALDAG-GEFI|CDC25L F25B3.3 kinase-like protein|OTTHUMP00000196700|RAS guanyl nucleotide-releasing protein 2|RAS guanyl-releasing protein 2|calcium and DAG-regulated guanine nucleotide exchange factor I|calcium and diacylglycerol-regulated guanine nucleotide exchange factor I|cdc25-like protein|guanine exchange factor MCG7|hCDC25L protein-coding 1312152 RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM] 2314812 19838193,20379614,20516000,10934204,19421330,17012239,16381901,16344560,15657177,15572660,15545601,15489336,15489334,15213298,14702039,12730099,12477932,11230166,11221888,11076863,10048485,8401585,17353931,20876802 2314812 25780 NM_170672,NM_001139488,NM_015376,AC020594,CH471053,AA351079,AB020653,AK125551,AK292983,BC027849,BX114300,BX647990,DA336406,DA403707,DA439087,FB342951,FB711074 NP_733772,NP_001132960,NP_056191,AAY15037,EAX00432,EAX00433,EAX00434,BAA74869,BAF85672,AAH27849,Q53SD7,Q8IV61,CAL37457,CAR81476,CAS91492 Hs.143674 GRP3|KIAA0846 OTTHUMP00000201245|calcium and DAG-regulated guanine nucleotide exchange factor III|guanine nucleotide exchange factor for Rap1|ras guanyl-releasing protein 3 protein-coding 733193 RASGRP4 RAS guanyl releasing protein 4 The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11880369,18024961,14702039,12493770,12477932,11956218,19350351,21182207 115727 NM_170604,NM_001146202,NM_001146203,NM_001146204,NM_001146205,NM_001146206,NM_001146207,AC005789,AC011469,AC093076,CH471126,AF448437,AK097292,AY048119,AY048120,AY048121,BC142721,BC146669,BC150202,BC151216,BQ028385,FJ768677,FJ768678,FJ768679,FJ768680,FJ768681,FJ768682 NP_733749,NP_001139674,NP_001139675,NP_001139676,NP_001139677,NP_001139678,NP_001139679,EAW56794,AAL87858,AAK85701,AAK85702,AAK85703,AAI46670,AAI50203,ACN82414,ACN82415,ACN82416,ACN82417,ACN82418,ACN82419,Q8TDF6 Hs.130434 RAS guanyl-releasing protein 4|guanyl nucleotide releasing protein 4 protein-coding 1313233 RASIP1 Ras interacting protein 1 737633 20379614,14702039,12477932,15489334,15031288,21060863,21102463 737633 54922 NM_017805,AC008888,AC009002,CH471177,AK000408,AK123179,AY378097,BC021860,BC028614,BC042111,BX389914,CR608210 NP_060275,EAW52393,EAW52394,BAA91145,BAG53877,AAR24580,AAH21860,AAH28614,AAH42111,Q5U651,Q8IUR2,Q9NX72 Hs.233955 FLJ20401|RAIN ras-interacting protein 1 protein-coding 1606572 RASL10A RAS-like, family 10, member A 15489334,12477932,20646714,8975699,17984325,15833841,15731001 10633 NM_006477,AC002059,CH471095,BC022473,BC040434,BC050739,BC058077,BF436320,CR615340,Y07847,NM_001007279 NP_001007280,NP_006468,EAW59796,EAW59797,AAH22473,AAH40434,AAH50739,AAH58077,CAA69175,Q92737 Hs.73088 RRP22 RAS-related on chromosome 22|ras-like protein RRP22|ras-like protein family member 10A|ras-related protein on chromosome 22 protein-coding 1322024 RASL10B RAS-like, family 10, member B 737633,1580863 17984325,17028781,16344560,15489334,14702039,12477932,17207965 737633 91608 AC006237,CH471147,AB047296,AK122652,BC041133,CR602996,DA250459,NM_033315 NP_201572,EAW80132,BAB60894,BAG53643,AAH41133,Q96S79,ADQ32999 Hs.437035 MGC47540|RRP17|VTS58635 Ras-related protein 17|ras-like protein VTS58635|ras-like protein family member 10B protein-coding 1343885 RASL11A RAS-like, family 11, member A RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM] 15033445,12477932,20168301 387496 NM_206827,AL159977,CH471075,AY439004,BC132703,BC136761 NP_996563,CAH73746,EAX08402,AAS07577,AAI32704,AAI36762,Q6T310,ADR82880 Hs.192131 ras-like protein family member 11A protein-coding 1353496 RASL11B RAS-like, family 11, member B RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM] 1580863 17628721,16189514,15033445,14702039,12477932 65997 NM_023940,AC023154,CH471057,AK027267,AK314942,AY839725,AY839726,BC001087,BC001846,BC025694,BK001672,CR599114,CR605160,CR610178 NP_076429,EAX05441,BAB55008,BAG37448,AAX46798,AAX46799,AAH01087,AAH01846,AAH25694,DAA02135 Hs.8035 MGC2827|MGC4499 ras-like protein family member 11B protein-coding 1314790 RASL12 RAS-like, family 12 737633,1580863 17207965,15761153,12477932,12107412 737633 51285 NM_016563,AC013553,CH471082,AF233588,AK314914,BC053734,BI489884,CR598636,AK296261,AK300536 ADQ33054,NP_057647,EAW77709,EAW77710,AAF60286,BAG37426,AAH53734,Q9NYN1,BAG58974,BAG62244 Hs.27018 RIS Ras family member Ris|ras-like protein Ris|ras-like protein family member 12 protein-coding 1343966 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Seven alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 2291977,2291979,2299860,2299863,2299869,2299862,2299865,2299867,2299861,2299866,2299868 20677556,11857081,11333291,15109305,12024041,14743218,19548529,19478941,19454503,19450668,19374895,19366060,19276349,19223555,19193434,19172108,19165202,19160099,19148529,19140316,19118008,19098985,19062280,19024105,18824877,18822131,18783461,18691570,18679651,18641684,18616639,18608185,18592002,18566590,18538349,18537155,18514071,18494062,18483325,18474619,18469797,18425370,18358501,18349282,18347058,18337602,18336597,18322962,18313166,18286482,18182852,18172292,18086755,18071316,18058812,17994635,17967182,17960617,17920725,17899687,17889669,19470737,17720308,17698033,17695396,17683489,17668224,17645803,17634119,17608924,17606310,17598981,17563743,17538946,17526942,17523078,17477876,17473182,17444856,17379520,17360030,17342751,17320110,17251440,17170014,17099724,17064406,16951144,16937357,16918136,16912161,20562859,20697344,21115918,20075396,19799084,20208994,19957692,20193080,16891396,16810318,16641997,16619251,16606445,16596198,16510573,16344548,16329043,16316825,16315018,16229803,16186793,16140931,16125301,16096369,16028839,16007340,15987713,15980887,15949439,15948711,15942659,15870267,15867363,15867337,15799820,15780049,15761971,15736067,15711568,15700308,15546880,15540210,15480433,15469871,15447998,15378022,15375503,15251938,15231747,15205320,15145946,15075335,15027117,14961576,14961078,14871978,14729613,14688019,14603253,14601057,14511407,14506151,12912945,12839968,12839965,12794755,12792742,12684417,12673680,12670917,12647816,12594816,12545168,12527916,12477932,12399230,12142046,12114441,12082624,12082623,12082610,12067994,12032847,11390984,11306494,11085536,10998413,10888881,15753381,20496080,12762840,12795841,16169070,18788633,19145506,19221469,19326371,19473831,19506903,19509163,19637319,19652091,19657672,19727727,19761124,19795445,19821102,19854132,19887622,19940364,19962312,20042089,20056647,20069457,20086174,20140873,20146887,20184324,20237496,20361264,20453000,20471512,20038516,18799029,20668305,20800603,21036752 2291977,2291979,2299860,2299863,2299869,2299862,2299865,2299867,2299861,2299866,2299868 11186 NM_170714,NM_007182,NM_170712,NM_170713,AC002455,AC002481,CH471055,BQ072763,BT020047,BT020048,CR594387,CR594458,CR595431,CR603388,CR604275,CR605184,CR612924,CR612949,CR620030,CR621674,BM562405,DQ444319,AF040703,AF061836,AF102770,AF102771,AF102772,AF132675,AF132676,AF132677,AF286217,AF291719,AK292638,AK300994,BC110412,BC117153,BC143879,BE247372,BI915594,BI966696,BM152368,NG_023270 NP_733832,NP_009113,NP_733830,NP_733831,AAB67312,EAW65098,EAW65099,EAW65100,AAV38850,AAV38851,Q17RX7,Q1W2K8,Q5TZT2,Q9NS23,EAW65102,ABD97859,AAC70910,AAC16001,AAF35127,AAF35128,AAF35129,AAD44174,AAD44175,AAD44176,AAG10038,AAG10064,BAF85327,BAG62613,AAI10413,AAI17154,AAI43880,EAW65101 Hs.476270 123F2|NORE2A|RASSF1A|RDA32|REH3P21 Ras association (RalGDS/AF-6) domain family 1|Ras association domain family protein 1|WUGSC:H_LUCA12.5|cardiac-specific ras association domain family 1 protein|pancreas-specific ras association domain family 1 protein|ras association domain-containing protein 1|tumor suppressor protein RDA32 protein-coding 2290196 RASSF10 Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 19570220,19934646,18272789 644943 BX098487,AC084859,NM_001080521 A6NK89,NP_001073990 Hs.134650 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor-like|ras association domain-containing protein 10 protein-coding 1313644 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. 1580863 11857081,19509163,19525978,19555684,19773381,19962960,20368356,20379614,15569673,15489334,12477932,11780052,11210185,9373149,8724849,20562859,20920251,12732644,18294275,17891178,17549418,17320110,17013898,17013896,16344560,16265349,16012945,15806169,8125298,19513612 9770 NM_170774,NM_014737,AL133354,CH471133,AK222650,AK291458,AK307232,AY154470,AY154471,AY154472,BC110385,BC117118,BC117120,CR620887,CR627436,D79990,DA333367 ADR82929,NP_739580,NP_055552,CAC34362,EAX10445,BAD96370,BAF84147,AAN59975,AAN59976,AAN59977,AAI10386,AAI17119,AAI17121,CAH10522,BAA11485,P50749,Q8IZA5 Hs.631504 DKFZp781O1747|KIAA0168|RASFADIN Ras association (RalGDS/AF-6) domain family 2|ras association (ralgds/af-6) domain family 2|ras association domain-containing protein 2 protein-coding 1322918 RASSF3 Ras association (RalGDS/AF-6) domain family member 3 The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM] 1580863 19148488,15569673,15489334,12477932,11965544,20237496 283349 NM_178169,AC025262,AC078962,CH471054,AY217662,AY217663,BC100949,BC100950,BC100951,BC100952 NP_835463,EAW97134,EAW97135,EAW97136,AAO61687,AAO61688,AAI00950,AAI00951,AAI00952,AAI00953,Q496A9,Q86WH2 Hs.655521 MGC119194|MGC119195|MGC119197|RASSF5 Ras association (RalGDS/AF-6) domain family 3|ras association (ralgds/af-6) domain family 3|ras association domain-containing protein 3 protein-coding 1317179 RASSF4 Ras association (RalGDS/AF-6) domain family member 4 The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq] 20562859,19066393,17373700,15574778,15489334,15375500,15164054,14702039,12477932,11748221,16385451 83937 NM_032023,AL353801,CH471160,AB209446,AF260335,AK055763,AK092770,AK097272,AK311531,AL713716,AY216713,AY216714,AY216715,AY216716,BC032593,BI601296 NP_114412,CAI13062,CAI13063,CAI13064,EAW86627,EAW86628,BAD92683,AAG44666,CAD28511,AAO61138,AAO61139,AAO61140,AAO61141,AAH32593,Q59FL4,Q5T739,Q9H2L5 Hs.522895 AD037|MGC44914 Ras association (RalGDS/AF-6) domain family 4|Ras association domain family 4|ras association domain-containing protein 4|tumor suppressor RASSF4 protein-coding 1606212 RASSF5 Ras association (RalGDS/AF-6) domain family member 5 This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20562859,9488663,12845325,15109305,16892067,19435914,19118008,19098985,18616639,18596699,18452173,18211824,17716979,17320110,16757334,16713569,16710414,16606445,16520020,16516329,16421102,16352687,16344560,15980887,15569673,15489334,15378027,14702039,14667507,12676952,12477932,11978988,11965544,11864565,11857081,20064523,20237496,20339001,20346707,20379614,20508983 83593 NM_182663,NM_182664,NM_182665,AL354681,AL591846,CH471100,AB209145,AF445801,AK056568,AK074115,AK289861,AK291268,AK292039,AL832784,AY062002,AY062003,AY216268,AY261332,BC004270,BC007203,BC042651,CD367770,CR610514,DA370470,CR596354 NP_872604,NP_872605,NP_872606,CAI15252,CAI15253,CAI15254,CAI15256,CAI13536,CAI13537,CAI13538,CAI13542,EAW93541,EAW93542,EAW93543,EAW93544,EAW93545,BAD92382,AAL38592,BAB84941,BAF82550,BAF83957,BAF84728,CAI46164,AAL40388,AAL40389,AAO61668,AAP83360,AAH04270,AAH07203,AAH42651,Q59GG4,Q8TEK8,Q8WWW0,ABM83887,ABM87207,ACE87261 Hs.497579 MGC10823|MGC17344|Maxp1|NORE1|NORE1A|NORE1B|RAPL|RASSF3 OTTHUMP00000034536|Rap1-binding protein|Ras association (RalGDS/AF-6) domain family 5|Ras effector-like protein|new ras effector 1|novel Ras effector 1|ras association domain-containing protein 5|regulator for cell adhesion and polarization enriched in lymphoid tissue|regulator for cell adhesion and polarization enriched in lymphoid tissues|tumor suppressor RASSF3 protein-coding 1605848 RASSF6 Ras association (RalGDS/AF-6) domain family member 6 RASSF6 is a member of the RAS association (RA) domain family of RAS effectors/tumor suppressors that mediate some of the growth inhibitory properties of RAS (see HRAS; MIM 190020) oncogenes (Eckfeld et al., 2004 [PubMed 15574778]).[supplied by OMIM] 18563170,17404571,17367779,15574778,15489334,14702039,12477932,19570220,19797269 166824 NM_201431,NM_177532,AC074250,CH471057,AK002032,AK126346,AY217664,AY217665,BC058835,BU959014,CR749283 NP_958834,NP_803876,EAX05685,EAX05686,BAC86530,AAO61689,AAO61690,AAH58835,CAH18138,Q6ZTQ3 Hs.590920 DKFZp686K23225 Ras association (RalGDS/AF-6) domain family 6|putative RAS binding protein|ras association domain-containing protein 6 protein-coding 1314751 RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 12812986,19367319,18272789,16730941,15489334,15098441,12477932,8889548,1339391,20629633 8045 NM_003475,NM_001143993,NM_001143994,AP006284,CH471158,AL535761,BC106921,BC106922,CA315057,CR591016,CR595567,CR604720,CR611851,CR612580,CR613045,CR618937,CR623626,M91083 Q3KP41,NP_003466,NP_001137465,NP_001137466,EAX02348,EAX02349,EAX02350,EAX02351,AAI06922,AAI06923,AAA58667,Q02833,ABZ92268 Hs.72925 C11orf13|HRAS1|HRC1|MGC126069|MGC126070 HRAS1-related cluster protein 1|HRAS1-related cluster-1|OTTHUMP00000162847|OTTHUMP00000162848|Ras association (RalGDS/AF-6) domain family 7|chromosome 11 open reading frame 13|ras association domain-containing protein 7 protein-coding 1318811 RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 17194498,16462760,16189514,15489334,15324660,12477932,11836357,10951517,20514026,11053263,14702039,16344560,20379614,17207965 11228 U82396,NM_007211,AC055707,CH471094,AB093206,AK290055,AK292333,AY665468,AY665469,AY665470,AY665471,BC030021,CR456905,AK021604,AL122049,BC040580,BE440096,DB044325,DB055998,NM_001164746,NM_001164747,NM_001164748,HC877937 NP_009142,EAW96522,EAW96523,EAW96524,EAW96525,BAC98838,BAF82744,BAF85022,AAV54603,AAV54604,AAV54605,AAV54606,AAH30021,CAG33186,AAC95425,Q5SCI0,Q6IB99,Q8NHQ8,NP_001158218,NP_001158220,NP_001158219,CBM42859,ADQ32384 Hs.696433 C12orf2|DKFZp434O0227|FLJ11542|HOJ1|HoJ-1 carcinoma associated HOJ-1|carcinoma-associated protein HOJ-1|chromosome 12 open reading frame 2|ras association domain-containing protein 8 protein-coding 731307 RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq] 633607,1580863 9837933,18272789,14702039,12477932 633607 9182 NM_005447,AC016993,AC137768,CH471054,AF056209,AK022089,BC031589 NP_005438,EAW97399,AAD03250,BAG51066,AAH31589,O75901,ABM81713,ABM84869 Hs.527881 P-CIP1|PAMCI PAM COOH-terminal interactor protein 1|peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor protein-1|ras association domain-containing protein 9 protein-coding 1603914 RAVER1 ribonucleoprotein, PTB-binding 1 19423540,19523901,20406964,20438785,18377426,17931803,17081983,16964243,15489334,15302935,12477932,11853319,11724819,11181995,19913121,20628086 125950 NM_133452,AC011511,AC114271,CH471106,AB075858,BC037428,BC037565,BX401103,CR590285,CR597964,CR746909,DB446023 NP_597709,EAW84093,EAW84094,EAW84095,BAB85564,AAH37565,Q8IY67 Hs.726183 KIAA1978 protein raver-1|ribonucleoprotein PTB-binding 1 protein-coding 1602482 RAVER2 ribonucleoprotein, PTB-binding 2 16051233,15489334,14702039,12477932,10997877,20237496 55225 AK058029,AK299228,AL359613,BC065303,CR603062,NM_018211,AC093427,AC099678,CH471059,AB046799,AK001632 BAA91798,BAG61261,CAB94883,AAH65303,Q9HCJ3,Q9NVF4,NP_060681,EAX06549,EAX06550,BAB13405 Hs.591443 DKFZp762D1011|FLJ10770|KIAA1579 protein raver-2|ribonucleoprotein PTB-binding 2 protein-coding 1606797 RAX retina and anterior neural fold homeobox Development of the vertebrate eye requires a series of steps including specification of the anterior neural plate, evagination of the optic vesicles from the ventral forebrain, and the cellular differentiation of the lens and retina. Homeobox-containing genes, including RAX, play a critical role in vertebrate and invertebrate eye formation (Mathers et al., 1997 [PubMed 9177348]).[supplied by OMIM] 10625658,19397404,19158959,14662654,12477932,11069920,10766016,9177348,20057906,20494911 30062 NM_013435,AC067859,CH471096,AF115392,BC051901,NG_013031 NP_038463,EAW63093,AAD23438,AAH51901,Q86V11,Q9Y2V3,AAI56202,AAI57123 Hs.278957 MCOP3|RX retina and anterior neural fold homeobox protein|retinal homeobox protein Rx protein-coding 1606205 RAX2 retina and anterior neural fold homeobox 2 This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. [provided by RefSeq] 15028672,12477932,20237496 84839 NM_032753,NG_011565,AC005777,CH471139,AY211277,BC007284,BC018709,BC032512 NP_116142,EAW69288,AAP41547,AAH07284,AAH18709,AAH32512,Q96IS3 Hs.532691 ARMD6|CORD11|MGC15631|QRX|RAXL1 Q50-type retinal homeobox protein|retina and anterior neural fold homeobox like 1|retina and anterior neural fold homeobox protein 2|retina and anterior neural fold homeobox-like protein 1 protein-coding 731712 RB1 retinoblastoma 1 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq] 2291991,2296051,2299896,2299895,2299055,2299894,2299890,2299893,2299887,2299891,2299888,2299889,1580863 10613832,10938588,11162467,11259609,12473678,12525503,12963846,14555653,15221456,15542589,15750587,16249186,16326706,16510145,16616919,16766265,17045206,17183714,17187060,17274640,17517622,18624751,19223331,19279001,19390654,19430707,19465901,19477924,19556322,19588502,19597473,19631451,19633425,19648117,19666944,19723065,19738611,19789190,19802012,19817957,19838216,19863319,19880526,19883508,19903334,19919588,19926638,19950226,20003272,20041224,20082263,20090211,20100483,20140018,20223825,20226061,20226085,20362553,20379614,20435627,20453000,7818556,8384581,8552662,9054499,9128241,9529249,19124506,17461478,17455244,17428253,17413032,17390023,17380128,17369843,17369289,17332242,17318405,17299438,17297463,17286450,17216555,17182682,17163992,17160137,17145812,17131485,17094467,17047088,17043357,17031475,17028578,17012228,16984923,16966377,16948516,16936805,16935576,16916716,16912184,16880741,18386058,18383208,18381962,18360108,18348166,18332869,18321963,18306932,18305152,18296270,18294958,18281541,18262051,18236071,18216119,18211953,18196971,18181215,16824683,10339564,8246996,15619620,15271987,9632788,8560263,8816798,8816797,8662825,15735762,7629134,15479636,1638634,9343168,15241418,8346196,11447271,10869426,10866689,10850422,10783144,10779342,10748174,10721693,10702291,10671068,10647931,10490602,10486249,10446990,10409732,10393912,10376528,10330166,10321733,10220405,10207050,10197586,10196196,10082561,10078201,10026157,10022926,9973307,9819434,9721205,9712901,9710587,9697699,9675141,9632747,9566959,9566894,9559293,9545246,9525916,9501179,9495340,9468140,9468139,9395244,9380698,9315663,9315635,9312071,9311732,9258347,9256431,9242374,9178770,9169441,9145110,12682072,12629508,12621062,12594215,12588990,12569181,12556968,12532471,12532331,12528819,12508351,12507935,12502741,12499093,12479814,12477932,12475961,12466551,12461781,12459729,12450794,12439743,12419581,12401721,12397079,12391839,12391156,12377414,12374284,12362308,12210730,12200151,12197776,12173465,12153616,12145697,12140374,12096344,12085226,12054658,12037672,12036888,12032846,12021356,12016586,11971966,11960384,11956626,11940667,11909966,11896613,11847125,11832063,11805327,11788883,11748221,11668642,11596110,11583618,11571652,11571651,11568901,11566021,11533237,11524739,11500496,11484059,11433299,11420704,11268000,11254678,11113200,11094070,11085541,11073990,11073989,11042686,11034201,10888886,9140452,9139732,9125176,9010216,9003781,8946919,8870681,8832394,8776589,8756626,8756624,8657117,8626527,8605116,8493578,8490963,8490568,8475068,8434021,8381715,8346255,8278403,8242749,8230483,8217609,8170997,8152792,8058329,7935440,7927327,7923370,7902321,7881418,7838535,7828850,7795591,7791904,7777526,7739537,7732011,7724524,7704558,7673249,7664264,7592647,7558034,7538672,7525595,7503932,7287000,3823889,3653883,3480530,3413073,2839300,2717184,2701949,2594029,1857421,1756735,1641004,1532458,1388726,1352883,1352398,15103018,15093750,9453249,12241561,10523633,11997511,11126356,11470869,9422723,8896460,9813067,10353443,10779361,10734134,10359315,11285237,12466959,11684023,10615135,9724731,10938106,9071815,17972097,11358960,11350943,11521194,10518542,12711675,15806172,15674331,20596833,20705054,20565234,20870719,20336668,16912045,16964284,17008050,20594292,20628002,21048031,20447117,20627193,19081374,18976938,20059380,20372796,20372802,20534814,20713352,20558744,20614030,15572661,16286473,16360038,3657987,10944455,7542657,10825186,19149898,15541338,9858607,9491888,9448006,9190208,11931757,14527418,17540172,19640284,19594747,19458004,19421149,19389926,19383911,19351817,19280657,19258477,19225156,19212661,19160091,19152247,19144636,19141402,19140325,19137728,19130399,19058005,18950845,18948382,18843795,18801742,18794899,18794045,18782450,18779498,18768921,18766991,18755268,18702872,18697743,18694959,18691182,18677770,18677112,18632617,18593909,18546941,18503160,18483265,18477220,18459177,18458534,18431743,18391203,18073205,18071317,18048012,18000883,17996702,17991896,17977825,17974914,17963824,17960112,17916908,17913805,17913706,17900658,17880527,17877762,17804741,17716930,17704056,17702869,17695524,17686574,17671693,17652530,17642181,17640669,17616676,17616526,17609271,17597480,17576813,17557897,17549378,17523078,17511743,17495525,17490733,15489334,15485920,15485814,15469821,15469703,15467457,15389598,15389561,15381253,15367658,15367600,15308640,15306814,15264269,15210709,15199152,15193257,15169919,15162822,15161658,15105429,15084261,15057823,15048095,15044952,14966529,14871261,14737116,14732703,14730602,14729647,14722923,14693709,14684825,14681231,14676836,14645241,14631100,14627988,14625809,14585976,14534726,14533007,14519639,14506250,12963997,12947005,12944478,12891711,12860972,12845674,12809602,12761493,16764854,16698799,16816134,16685266,16682285,16682076,16619045,16616093,16614728,16595082,16570290,16464825,16458891,16388084,16374512,16368535,16354195,16352731,16343421,16332962,16315642,16303160,16273238,16269091,16254459,16212876,16205627,16188218,16186801,16127685,16042572,16020958,15949438,15939381,15927959,15884040,15881662,15878620,15838894,15837424,15827088,15811853,15809752,15803180,15776430,15767262,15763650,15763542,15752352,15741232,15735701,15731778,15716956,15709169,15701640,15684604,15679863,15674338,15671551,15655836,15647840,15647383,15640164,15583032,15580311,15577944,15564485,15547691,15538385,15523694,15502804,15492985,15489336,12757710,20428774,20668449,20551165,16397580,16581787,16645588,21099110,20157766,20694007 2291991,2296051,2299896,2299895,2299055,2299894,2299890,2299893,2299887,2299891,2299888,2299889 5925 NG_009009,AF551763,AL136960,AL392048,AY124936,AY243567,AY260472,AY643840,CH471075,L11910,L41890,L41891,L41893,L41894,L41895,NM_000321,M15400,M19701,M28419,M33647,L41897,L41898,L41899,L41904,L41908,L41909,L41910,L41912,L41913,L41914,L41997,L49225,L49231,L49232,M27866,X16439,AB208788,AF043224,AK291258,AK299179,AK300284,AK307125,AK307730,AY429568,BC039060,BC040540,L41870,L41896 NP_000312,AAN64133,CAH70901,CAH72243,AAN41646,AAO62758,AAP39867,AAT66036,EAX08793,EAX08794,AAA53483,AAA65735,AAA65736,AAA65737,AAA65738,AAA65739,AAB59465,AAA69807,AAA60259,AAA69808,AAA69806,P06400,P78495,Q59HH0,Q6DUF0,Q6LE65,Q6LE77,Q6LE79,Q6LE80,Q6LE81,Q6LE82,Q7KZ60,Q7KZ61,Q7Z5Q6,Q7Z7J0,Q86WG4,Q92728,ABM82490,ABM85678,AAA65740,AAA65741,AAB59471,AAB59473,AAB59580,AAA65744,AAA65745,AAA65746,AAA65747,AAA65748,AAA65749,AAB59482,AAA82563,AAA82557,AAA82558,AAA53484,CAA34462,BAD92025,AAC26845,BAF83947,BAG61225,BAG62042,AAH39060,AAH40540 Hs.408528 OSRC|RB|p105-Rb|pRb|pp110 retinoblastoma 1|retinoblastoma suspectibility protein|retinoblastoma-associated protein protein-coding 1319644 RB1CC1 RB1-inducible coiled-coil 1 1580863,1599411,4889529 17015619,10769033,9039502,7724523,20562859,17353931,19437535,19258318,19225151,18676680,18443221,18285457,18036779,17707572,17706618,17081983,16865226,16344560,16061648,16043512,15968549,15489334,15375585,14533007,12477932,12221124,12163359,12095676,12068296,11850849,19170196,19211835,19625176,19690328,19692168,19888451,20453000,20614030 1599411,4889529 9821 NM_014781,NM_001083617,AC090814,AC113139,CH471068,AB059622,AK291699,AK294579,AK307436,AY173931,BC017556,BC032074,D86958,DA326842,Z35085,NG_015833 NP_055596,NP_001077086,EAW86719,EAW86720,EAW86721,BAB69690,BAF84388,BAG57770,AAO17545,AAH17556,BAA13194,Q86YR4,Q8TDY2,ABM83328 Hs.196102 CC1|DRAGOU14|FIP200 200 kDa FAK family kinase-interacting protein|RB1-inducible coiled-coil protein 1 protein-coding 1602691 RBAK RB-associated KRAB zinc finger This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. [provided by RefSeq] 10702291,19284880,19240061,18307725,17121540,16344560,14702039,14664718,12070015,12477932,20466629 57786 NM_021163,AC092032,CH471144,AK093275,AK293069,AL711327,BC136675,BC136676,CD238907,DB363461 NP_066986,AAQ93364,EAW87321,BAF85758,AAI36676,AAI36677,Q9NYW8 Hs.396178 ZNF769 OTTHUMP00000149966|OTTHUMP00000200569|OTTHUMP00000200570|RB-associated KRAB repressor|RB-associated KRAB zinc finger protein|hRBaK|zinc finger protein 769 protein-coding 1323349 RBBP4 retinoblastoma binding protein 4 This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19862764,14609955,9150135,17353931,8350924,19015307,18577416,17974974,17616526,17244783,16429158,15701600,15635413,15489334,15456747,15451426,15225548,14966907,14702039,14645126,12943729,12920132,12893285,12705869,12670868,12628926,12493763,12477932,12435631,12430566,12351676,12124384,12091390,11788710,11784859,11777905,11470869,11331609,11302704,11118440,11102443,11013263,10961924,10866654,10819992,10734134,10471500,10471499,10444591,10220405,10220385,9804427,9790534,9651585,11238380,11756549,9614144,9520398,9427644,9373149,8858152,8602529,8125298,7503932,1699755,1286667,9150133,11171972,16169070,12198550,19913121,20628086,15385962,16387653,17255935,17827154,19644445,20123894 5928 NM_005610,NM_001135255,NM_001135256,AC114489,CH471059,CQ887963,AK056356,AK056550,AK222779,AK299251,AK299410,BC003092,BC015123,BC053904,BC075836,BT007309,CR600272,CR611583,DC315298,X71810,X74262,AK312571 NP_005601,NP_001128727,NP_001128728,EAX07513,EAX07514,EAX07515,CAH61602,BAD96499,BAG61282,BAG61392,BAG35466,AAH03092,AAH15123,AAH53904,AAH75836,AAP35973,CAA50685,CAA52321,Q09028,ABM83425,ABM86638 Hs.16003 NURF55|RBAP48 CAF-1 subunit C|CAF-I 48 kDa subunit|CAF-I p48|MSI1 protein homolog|OTTHUMP00000009734|RBBP-4|chromatin assembly factor 1 subunit C|chromatin assembly factor I p48 subunit|chromatin assembly factor/CAF-1 p48 subunit|histone-binding protein RBBP4|nucleosome-remodeling factor subunit RBAP48|retinoblastoma-binding protein 4|retinoblastoma-binding protein p48 protein-coding 1313612 RBBP5 retinoblastoma binding protein 5 The protein encoded by this gene is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. [provided by RefSeq] 1580863 16253997,16603732,17355966,17761849,18082152,18680430,19187761,19433449,19556245,20064463,20085832,20093773,16344560,17041588,14992727,15199122,17081983,16604156,12482968,12477932,11337467,8889549,7558034,15960975,16510874,19131338,17998332,16712791 5929 BQ020418,DA797022,NM_001193272,NM_001193273,AC093422,AL583832,CH471067,AA235403,AK290137,AK296978,AK297540,AU099032,BC037284,BC053856,BC075059,BC075060,BG392257,CB133829,CD710496,X85134,NM_005057 CAI15286,CAI15287,NP_001180201,NP_001180202,EAW91536,EAW91537,EAW91538,EAW91539,BAF82826,BAG59520,BAG59939,AAH37284,AAH53856,AAH75059,AAH75060,CAA59446,Q15291,ABM82131,ABM85314,NP_005048 Hs.519230 RBQ3|SWD1 OTTHUMP00000035178|RBBP-5|SWD1, Set1c WD40 repeat protein, homolog|retinoblastoma-binding protein 5|retinoblastoma-binding protein RBQ-3 protein-coding 1323690 RBBP6 retinoblastoma binding protein 6 The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq] 1580863 17470788,20171287,15475430,15302935,15231748,14702039,12477932,12064457,8595913,9010216,17207965,18624398,18851979,17081983,16964243,16396680,15617101,15489334,20936779 5930 NM_018703,NM_032626,AC010321,BX538187,CH471145,AB112074,AB112075,AF063596,AF116625,AF352051,AK023612,AK026954,AK303040,AL359564,AY072922,BC015318,BC029352,BC029649,BC030964,BC051317,NM_006910,BC063524,BC073938,BC101139,BC101140,BC101141,BC101142,BC114353,BC114354,BC118667,BC139830,BF727303,BI489954,BM314442,BX648661,CB529116,CD638608,X85133 ADQ32273,NP_008841,NP_061173,NP_116015,EAW55789,EAW55790,EAW55791,EAW55792,BAC77636,BAC77637,AAG43155,AAF71048,AAL05625,BAB15600,BAG64162,CAB94869,AAL68925,AAH15318,AAH29352,AAH63524,AAH73938,AAI01140,AAI01141,AAI01142,AAI01143,AAI14354,AAI14355,AAI18668,AAI39831,CAA59445,Q7Z6E9,Q96BR4,Q9P1K4,AAI72357 Hs.188553 DKFZp686P0638|DKFZp761B2423|MY038|P2P-R|PACT|RBQ-1|SNAMA E3 ubiquitin-protein ligase RBBP6|RB-binding Q-protein 1|p53-associated cellular protein of testis|proliferation potential-related protein|protein P2P-R|retinoblastoma-binding Q protein 1|retinoblastoma-binding protein 6|retinoblastoma-binding protein 6, isoform 3 protein-coding 732412 RBBP7 retinoblastoma binding protein 7 This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. [provided by RefSeq] 1580863 9150135,7503932,18577416,18571423,17314274,16916647,15635413,15456747,15451426,15146197,15016378,14981905,14702039,14666671,14645126,14609955,12920132,12705869,12670868,12493763,12477932,12435631,12124384,11788710,16344560,20562859,11784859,11118440,11102443,10866654,10471500,10444591,10220405,9804427,9790534,9765217,9651585,9427644,2005966,10471499,11746496,11394910,11756549,19913121,20628086,16387653,17255935,19497860,19615732,19644445,19655816,19862764 5931 AL929302,CH471074,AK091911,AK127332,AK291567,AK310309,BC114500,BC114501,CN414343,CR541701,CR592155,CR596205,CR611848,CR615058,CR620066,CR624515,DB460068,U35143,X72841,NM_002893,BQ775345,DA924163,NM_001198719 NP_002884,CAI41280,CAI41281,CAI41282,CAI41283,CAI41284,CAQ07342,EAW98919,EAW98920,EAW98921,BAG52439,BAF84256,AAI14501,AAI14502,CAG46502,AAC50231,CAA51360,Q16576,Q5JNZ6,Q5JNZ9,Q5JP00,Q5JP02,Q6FHQ0,NP_001185648 Hs.495755 MGC138867|MGC138868|RbAp46 G1/S transition control protein-binding protein RbAp46|OTTHUMP00000197565|RBBP-7|histone acetyltransferase type B subunit 2|histone-binding protein RBBP7|nucleosome-remodeling factor subunit RBAP46|retinoblastoma-binding protein 7|retinoblastoma-binding protein RbAp46|retinoblastoma-binding protein p46 protein-coding 1317354 RBBP8 retinoblastoma binding protein 8 The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq] 1580863 17525342,19584272,19633668,19690177,20007691,20064462,16818604,11739404,17525340,10764811,19357644,19342888,19270026,19202191,18950845,18676825,18391951,18171986,18171670,18095152,18007598,17965729,17546052,17112672,16581787,16287852,16189514,15302935,12477932,12015313,11959865,11751867,11689934,11427533,11313276,10918303,10910365,10449734,10196224,9811458,9738006,9721205,9535825,8076819,14578343,12925972,10779361,14654780,15084581,10608806,18716619,19702191,20546612,20635389,20829486,20974687,20364137,20694014 5932 NM_002894,NM_203292,NM_203291,NG_012121,AC091147,AC106033,CH471088,AF043431,AK292481,BC001170,BC030590,BG723261,BU187672,BX648221,U72066 NP_002885,NP_976037,NP_976036,EAX01143,EAX01144,EAX01145,EAX01146,AAC34368,BAF85170,AAH30590,AAC14371,Q8NHQ3,Q99708,ABM81882,ABM85045 Hs.546282 CTIP|RIM|SAE2 CTBP-interacting protein|DNA endonuclease RBBP8|OTTHUMP00000162575|RBBP-8|retinoblastoma-binding protein 8|retinoblastoma-interacting myosin-like|retinoblastoma-interacting protein and myosin-like|sporulation in the absence of SPO11 protein 2 homolog protein-coding 1349258 RBBP9 retinoblastoma binding protein 9 The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq] 69955,1580863 19004028,15489334,14702039,12730717,12477932,12296629,11780052,10449909,9697699,18029348,20080647 69955 10741 NM_006606,AL121893,CH471133,AF039564,AF237576,AK023897,AL832411,BC015938,BC020627,BC026880 NP_006597,CAC11112,EAX10236,EAX10237,EAX10238,AAC63498,AAL83721,CAI46193,AAH15938,O75884,ABZ92296 Hs.69330 BOG|MGC9236|RBBP10 B5T overexpressed gene protein|B5T-overexpressed gene protein|RBBP-10|RBBP-9|putative hydrolase RBBP9|retinoblastoma-binding protein 10|retinoblastoma-binding protein 9|retinoma-binding protein 9 protein-coding 731853 RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq] 19277210,18711448,18303026,17822790,17449468,16643902,16083853,15951569,15833741,15489334,14759258,12629548,12477932,11780052,10431818,17682061,17006537,19136968,19796170,20103625,19549727,20098747,20956555 10616 NM_031229,NM_006462,AL121747,CH471133,AB107766,AK297524,AK309414,BC000983,BC014116,BC015219,BC016301,CR608145,CR625598,U67322 NP_112506,NP_006453,CAC17516,CAC28312,CAI23017,CAI23018,EAX10673,EAX10675,BAC75409,BAG59927,AAH15219,AAD00162,Q5JWR1,Q9BYM8 Hs.247280 C20orf18|HOIL-1|HOIL1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4 HBV associated factor 4|HBV-associated factor 4|OTTHUMP00000196664|OTTHUMP00000196665|RBCC protein interacting with PKC1|RING finger protein 54|heme-oxidized IRP2 ubiquitin ligase 1|hepatitis B virus X-associated protein 4|protein kinase c-binding protein beta15|ranBP-type and C3HC4-type zinc finger-containing protein 1|ubiquitin conjugating enzyme 7 interacting protein 3|ubiquitin-conjugating enzyme 7-interacting protein 3 protein-coding 1320751 RBKS ribokinase The ribokinase encoded by this gene belongs to the pfkB family of carbohydrate kinases. It phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. [provided by RefSeq] 737633,1580863 12477932,8382990,15489334,17585908,20379614 737633 64080 NM_022128,AC021171,AC110084,CH471053,AJ404857,AK300989,AY643715,BC017425,BX648909,CR609030 NP_071411,AAY24155,EAX00550,EAX00551,CAC12877,BAG62608,AAT64917,AAH17425,Q53SD1,Q9H477 Hs.11916 DKFZp686G13268|RBSK 5230400M11Rik|ribokinase protein-coding 1313374 RBL1 retinoblastoma-like 1 (p107) The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16360038,16286473,19453261,18799622,18418057,18086563,17563750,16943418,16537896,16189514,16135806,15939381,15827088,15631990,15489334,15467457,14671316,14666683,12947099,12621062,12588981,12477932,12466551,12450794,12439743,12150994,12096339,12006580,11884610,11780052,11642725,11573202,11571651,11313936,11034201,10863094,10540350,10376528,10330166,10082561,10022926,9927208,9747874,9724731,9721205,9710587,9697699,9566894,9501179,9372959,9242374,8643455,8622916,8319904,8230483,8076603,7958925,7958924,7935440,7892279,7791762,7565695,1833063,1532458,9891079,7739537,10490602,7760804,11521194,15716956,15479636,10766737,11799066,8816797,15735762,20663872,16620772,14555653,15750587,17255935,19279001,19738611,20379614,20453000,8798463,9464541,16712791 5933 NM_002895,NM_183404,AL136172,AL365505,AL391114,CH471077,S78664,AK290380,AK308096,AK310870,BC032247,CB115117,L14812,M74547 NP_002886,NP_899662,CAI95716,CAI95717,CAI95177,CAI95178,EAW76088,EAW76089,AAD14290,BAF83069,AAH32247,AAA02489,AAA36397,P28749,ABM92229,ABM84709,CAI95151,CAI95152 Hs.207745 CP107|MGC40006|PRB1|p107 107 kDa retinoblastoma-associated protein|cellular protein 107|retinoblastoma-like protein 1 protein-coding 733260 RBL2 retinoblastoma-like 2 (p130) 1580863 11571651,15750587,17159899,19074885,19252413,19279001,19453261,19597825,19648966,19668264,19694314,19738611,20009087,20071580,20189212,20406986,9464541,16286473,18676747,18446820,18418057,18321970,18086563,17905135,17694957,17531812,17485552,16936755,16936753,16760287,16600870,16537896,16458891,16364039,16344560,16135806,15949438,15939381,15827088,18029348,20211142,20800603,15467457,15231644,15161709,15131049,15059924,14671316,14587097,14534545,13679860,12968030,12915404,12789260,12789259,12637156,12621062,12588981,12477932,12474056,12466551,12450794,12435635,12386819,12196924,12006580,11959842,11756542,15696973,11642725,11573202,11319226,11157749,11042701,11042686,11034201,10969803,10449734,10376528,10330166,10022926,9819434,9747874,9724731,9721205,9710587,9697699,9566894,9242374,9188854,9178770,8643454,8361765,8253384,8253383,8247552,7760804,15103018,9891079,10490602,11521194,15861133,15479636,15577944,11799066,10766737,15271987,7892279,15735762 5934 NM_005611,AC007342,CH471092,U53220,AK129969,AK300047,AK304283,AK307881,BC034490,BX537767,CR608692,DB017942,S67171,X74594,X76061 NP_005602,EAW82801,EAW82802,AAC50479,BAG61857,BAH14149,AAH34490,CAD97830,AAB29227,CAA52671,CAA53661,Q08999,Q7Z3L2,Q8NE70 Hs.513609 FLJ26459|P130|Rb2 130 kDa retinoblastoma-associated protein|PRB2|RBR-2|retinoblastoma-like 2|retinoblastoma-like protein 2|retinoblastoma-related protein 2 protein-coding 732878 RBM10 RNA binding motif protein 10 The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs. In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene cluster on chromosome Xp11.23, and its 3' end lies within 20 kb upstream of UBE1. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 18669648,18820371,18315527,17081983,16713569,16552754,16381901,16189514,15489336,15345747,15302935,14702039,14559993,12477932,11944989,11230166,11076863,9373149,8808293,8760884,8590280,8125298,16169070,11256614,20451169,18029348,14293686,5410571 8241 U35373,NM_005676,NG_012548,AL513366,CH471164,AK000962,AK024839,AK025854,AK225175,AK292758,AL137421,BC000681,NM_152856,BC003089,BC004181,BC008733,BC024153,BX537969,CR612855,CR613830,CR616597,D50912 BAA09471,AAB33572,P98175,Q6PKH5,Q7Z3D7,CAL37951,NP_690595,NP_005667,CAI41700,CAI41701,EAW59283,EAW59284,EAW59285,EAW59286,EAW59287,BAF85447,CAB70731,AAH00681,AAH03089,AAH04181,AAH08733,AAH24153,CAD97933 Hs.401509 DXS8237E|GPATC9|GPATCH9|KIAA0122|MGC1132|MGC997|S1-1|TARPS|ZRANB5 RNA-binding motif protein 10|RNA-binding protein 10|RNA-binding protein S1-1|S1-1|g patch domain-containing protein 9 protein-coding 1313079 RBM11 RNA binding motif protein 11 1580863 12909339,16713569,16189514,15489334,14702039,12477932,12036298,10830953,8889548,16712791 54033 AK091331,AY077695,BC030196,BQ186146,CB153254,NM_144770,AF130358,AP001660,CH471079,AF519623 BAC03638,AAL82535,AAH30196,P57052,NP_658983,BAA95545,EAX10060,EAX10061,EAX10062,EAX10063,AAM75350 Hs.283828 RNA-binding motif protein 11|putative RNA-binding protein 11 protein-coding 1343633 RBM12 RNA binding motif protein 12 This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in two transcript variants. Both variants encode the same protein. [provided by RefSeq] 1580863 16120600,18831769,17081983,15489334,15144186,14702039,12477932,12421765,12168954,11780052,11435693,9872452,9853615,16344560 10137 NM_152838,AF345335,AL109827,CH471077,AA481034,AB015336,AB018308,AF345332,AF393214,AI086083,AI376995,AJ289772,AK026963,AK074945,AK092239,AK299371,AL833222,NM_006047,AL834472,BC012787,BC013981,CD109659,CR624522,AA825305,DA319853,DB060608,NM_001198838,NM_001198840 NP_006038,NP_690051,AAL83755,CAB87611,CAI20134,EAW76182,EAW76184,EAW76188,BAA34794,BAA34485,AAL83752,AAM73682,CAC20441,BAG52036,BAG52504,BAG61361,CAH10603,CAD39131,AAH12787,AAH13981,Q5JX62,Q69YJ7,Q9NTZ6,ABM84419,ABM87436,NP_001185767,NP_001185769 Hs.246413 HRIHFB2091|KIAA0765|SWAN OTTHUMP00000062718|OTTHUMP00000062719|OTTHUMP00000196685|OTTHUMP00000196686|RNA-binding motif protein 12|RNA-binding protein 12|SH3/WW domain anchor protein in the nucleus protein-coding 1602033 RBM12B RNA binding motif protein 12B 17081983,15489334,12477932 389677 NM_203390,AC010834,CH471060,BC039260 NP_976324,EAW91699,Q8IXT5 Hs.606916 MGC:33837 RNA-binding motif protein 12B|RNA-binding protein 12B protein-coding 1321805 RBM14 RNA binding motif protein 14 15489334,15302935,15144186,14702039,14673176,12477932,11790298,9373149,9285794,8125298,11443112,18029348,18829545,17337438,17081983,16964243,16878147,16713569,16565220,16344560,16227627,15919756,19416963,19585539 10432 NM_001198836,NM_001198837,NM_006328,AP001157,CH471076,AB209007,AF080561,AF315632,AF315633,AK021768,AK222830,BC000488,BC007641,BC023619,BC024260,CR749306,DB044990,DQ294957 NP_001185765,NP_001185766,NP_006319,EAW74552,EAW74553,BAD92244,AAC64058,AAK77961,AAK77962,BAG51046,BAD96550,AAH00488,AAH07641,AAH24260,CAH18161,ABB99396,Q2PYN1,Q59GV2,Q96PK6,ABZ92033 Hs.714949 COAA|DKFZp779J0927|MGC15912|MGC31756|PSP2|SIP|SYTIP1|TMEM137 OTTHUMP00000179145|OTTHUMP00000205221|RNA-binding motif protein 14|RNA-binding protein 14|RRM-containing coactivator activator/modulator|SYT interacting protein|SYT-interacting protein|coactivator activator|paraspeckle protein 2|synaptotagmin-interacting protein|transmembrane protein 137 protein-coding 1343999 RBM15 RNA binding motif protein 15 Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM] 1580863 18710951,19615732,16129689,18667423,17081983,17001072,16964243,16710414,15849773,15489334,15302935,14702039,12477932,11431691,11344311,18029348 64783 AJ297259,AL355488,CH471122,AB209680,AF368062,AF368063,AF368064,AK022541,AK025596,BC000841,BC006397,BC010891,BC042587,BC047479,BC062316,BC098140,BC103493,BC103507,BC103660,BK005915,NM_022768,AW173262,AI863760,NM_001201545 NP_073605,CAC38861,CAC38862,CAI19077,EAW56438,EAW56439,EAW56440,EAW56441,BAD92917,AAK54722,AAK54723,AAK54724,BAB14088,BAB15185,AAH06397,AAH47479,AAH62316,AAH98140,AAI03494,AAI03508,DAA05818,Q3ZB86,Q59EY1,Q86VW9,Q96T37,NP_001188474 Hs.435947,Hs.708172 FLJ12479|FLJ21943|MGC119584|OTT|OTT1|SPEN RNA-binding motif protein 15|one twenty two protein|one twenty-two|one-twenty two protein 1|putative RNA-binding protein 15 protein-coding 1350628 RBM15B RNA binding motif protein 15B Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM] 737633,1580863 16129689,15489334,15302935,12477932,8401585,8889548,17081983,19586903,19336002 737633 29890 BM980577,NM_013286,AC092037,CH471055,AA369886,AL831838,AY545557,BC001367,BC121184,BC139836,BG674080,BI465048,CR610328,L13434 NP_037418,EAW65139,CAD38547,AAS50153,AAH01367,AAI21185,AAI39837,AAA72367,Q0VA89,Q8NDT2,ACE87343,ACE86660 Hs.716623,Hs.118738 HUMAGCGB|OTT3 RNA-binding motif protein 15B|chromosome 3p21.1 gene sequence|huOTT3|one twenty two protein 3|one-twenty two protein 3|putative RNA-binding protein 15B protein-coding 1342919 RBM16 RNA binding motif protein 16 1580863 18550522,17081983,15302935,14702039,14574404,12477932,10470851,8889548,11101529 22828 NM_014892,AL121952,AL136976,AL591499,CH471051,AB029039,AK001530,AK023859,AK307815,AL833928,BC032728,BC070071,BM976977,AK295651,AK302969,AK303001 NP_055707,CAI21474,CAI21482,CAH70694,EAW47696,EAW47697,BAA83068,BAB14705,CAD38784,AAH32728,AAH70071,Q05BU5,Q8NDE9,Q9H8B2,Q9UPN6,BAH12140,BAH13862,BAH13874 Hs.591329 KIAA1116|RBM16|SCAF8 CDC5L complex-associated protein 7|RNA binding motif protein 16|RNA-binding motif protein 16|RNA-binding protein 16|SR-like CTD-associated factor 8|putative RNA-binding protein 16 protein-coding 1322546 RBM17 RNA binding motif protein 17 This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq] 737633,1580863 17207965,18337722,17676041,17589525,17081983,16189514,16061639,15489334,15146197,14578179,12477932,12086596,12015979,9731529,12234937,16385451,17577209,20410501 737633 84991 NM_032905,NM_001145547,AL157395,CH471072,AA905075,AF542550,AK314952,BC007871,BC009064,BC039322,BX648288,CN291330,CR590836,CR592385,CR592607,CR595515,CR600086,CR612416,CR626154,CV570433 NP_116294,NP_001139019,CAH73599,CAH73600,CAH73601,CAH73602,CAH73603,EAW86405,EAW86406,EAW86407,EAW86408,EAW86409,EAW86410,EAW86411,AAQ09533,BAG37457,AAH07871,AAH09064,AAH39322,Q5W009,Q5W010,Q5W011,ADQ32701,Q5W012,Q96I25 Hs.498548 DKFZp686F13131|MGC14439|SPF45 45 kDa-splicing factor|RNA-binding motif protein 17|splicing factor 45|splicing factor 45kDa protein-coding 1316593 RBM18 RNA binding motif protein 18 737633,1580863 17567985,16344560,15489334,15164053,14702039,12477932,8889548,20379614 737633 92400 NM_033117,NR_027125,NR_027126,AL162424,CH471090,AK026870,AK057676,AK299625,AK301050,AK310008,AK310807,AL389986,BC008942,BC019319,BP870502,CA314508,CR607872,CR618261,CR618364,DA308339 NP_149108,CAI14706,EAW87518,EAW87519,BAG51951,BAG61553,BAG62661,AAH08942,AAH19319,Q96H35 Hs.415842 MGC2734 RNA-binding motif protein 18|probable RNA-binding protein 18 protein-coding 1318980 RBM19 RNA binding motif protein 19 This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 19240061,18519826,17081983,16344560,16027046,15635413,15489334,15231748,12874115,12477932,12429849,11790298,11230166,9734811,20379614 9904 NM_016196,NM_001146698,NM_001146699,AC009731,AC073863,AC090669,CH471054,AA594568,AB014582,AI218902,AK291444,AK314606,AL117547,BC004289,BC006137,DB096676 NP_057280,NP_001140170,NP_001140171,EAW98062,EAW98063,BAA31657,BAF84133,BAG37176,CAB55987,AAH04289,AAH06137,Q9Y4C8,ACE87145,ACE86464 Hs.7482 DKFZp586F1023|KIAA0682 RNA-binding motif protein 19|probable RNA-binding protein 19 protein-coding 1316618 RBM20 RNA binding motif protein 20 20590677,19712804,19712805,20379614 282996 NM_001134363,AL136368,AL359260,AL512508,AK302802,AL832084,BX648563,EU822950,NG_021177 NP_001127835,CAI40091,CAI40093,CAI16577,BAG64004,ACF49364,Q5T481 Hs.726550 RNA-binding motif protein 20|probable RNA-binding protein 20 protein-coding 1314003 RBM22 RNA binding motif protein 22 This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq] 737633,1580863 19133299,16381901,16344560,15616564,15489336,15489334,14702039,12477934,12477932,11991638,11256614,11230166,11076863,8681136,17045351,18029348,18482256,20013661 737633 55696 NM_018047,AC008453,CH471062,AK001152,AK096728,AK297019,AL136933,BC003402,CR594318,CR612187,DA534416,N23415 NP_060517,EAW61710,EAW61711,EAW61712,BAA91521,BAG59551,CAB66867,AAH03402,Q9NW64,CAL38515 Hs.713564 Cwc2|FLJ10290|ZC3H16|fSAP47 RNA-binding motif protein 22|functional spliceosome-associated protein 47|pre-mRNA-splicing factor RBM22|zinc finger CCCH domain-containing protein 16 protein-coding 1349605 RBM22P1 RNA binding motif protein 22 pseudogene 1 400645 AC068408,NG_023396 FLJ45994 pseudo 1352302 RBM23 RNA binding motif protein 23 This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,17081983,16169070,15694343,15498874,15489334,14702039,12508121,12477932,9373149,8125298,17207965 55147 CR457257,CR594554,CR595426,CR596824,CR597624,CR602590,CR612023,CR623387,NM_018107,NM_001077351,AL132780,AL135998,CH471078,AF087905,AF275678,AK001344,AK125593,AK225792,AK295448,AK303668,AK308055,AK315620,AL834198,BC002566,NM_001077352,BC024208,BC106012,BX161440,CK000110,CK003276 CAG33538,Q6IA98,Q86U06,ADQ32417,NP_001070820,NP_060577,NP_001070819,EAW66222,EAW66223,EAW66224,EAW66225,EAW66226,EAW66227,EAW66228,EAW66229,EAW66230,AAP97203,AAG24388,BAA91638,BAG54220,BAH12071,BAH14010,BAG37988,CAD38887,AAH24208,CAD61910,AAH02566 Hs.4997 CAPERbeta|FLJ10482|MGC4458|PP239|RNPC4 RNA-binding motif protein 23|RNA-binding region (RNP1, RRM) containing 4|RNA-binding region-containing protein 4|probable RNA-binding protein 23|splicing factor SF2 protein-coding 1317276 RBM24 RNA binding motif protein 24 12477932,19817877,16713569,15489334,15342556,14702039,14574404 221662 NM_001143941,NM_001143942,NM_153020,AL136305,CH471087,AK055391,AK095016,AK129865,AK293052,AK315856,AL832199,AL833156,AY547318,BC018674,BC040928,BC065748,BC104808,BC104810,BP309176 NP_001137413,NP_001137414,NP_694565,CAC36889,CAI19958,EAW55378,EAW55379,BAB70914,BAC04474,BAF85741,BAF98747,AAS55633,AAI04809,AAI04811,Q9BX46 Hs.726008 FLJ26355|FLJ30829|FLJ37697|RNPC6|dJ259A10.1 OTTHUMP00000221503|OTTHUMP00000221505|RNA-binding motif protein 24|RNA-binding protein 24|RNA-binding region (RNP1, RRM) containing 6|RNA-binding region-containing protein 6 protein-coding 1318710 RBM25 RNA binding motif protein 25 1302519,1580863 18663000,17560998,17081983,16964243,15561718,15302935,14702039,12508121,12477932,9847074,8227983,7596406,17353931,18029348 1302519 58517 NM_021239,BC111066,BC113389,BC113391,BC136775,BC136776,BC144407,BX647116,CR608971,L40392,S67071,AC004858,AF109907,AL442663,CH471061,AK026107,AK094697,AK125513,AL832314,AL833497,BC033664,BC062440,BC083496 AAI11067,AAI13390,AAI13392,AAI36776,AAI36777,AAI44408,AAC41999,AAB28817,P49756,Q16083,AAH83496,NP_067062,AAF19255,AAC97961,EAW81086,EAW81087,EAW81088,EAW81089,EAW81090,BAB15362,BAG52915,AAH62440 Hs.531106 MGC105088|MGC117168|NET52|RED120|RNPC7|S164|Snu71|fSAP94 Arg/Glu/Asp-rich protein, 120 kDa|RNA-binding motif protein 25|RNA-binding protein 25|RNA-binding region (RNP1, RRM) containing 7|RNA-binding region-containing protein 7|U1 small nuclear ribonucleoprotein 1SNRP homolog|arg/Glu/Asp-rich protein of 120 kDa|functional spliceosome-associated protein 94 protein-coding 1317989 RBM26 RNA binding motif protein 26 14702039,17081983,16964243,15741184,15489334,15057823,12477932,11149944,17577209,20379614,20562859 64062 NM_022118,AL139006,AL159974,CH471093,AF273052,AK024610,AK027339,AK027456,AK302871,AK302927,AL834343,BC000791,BC030806,BC041655,BC065024,BC111697,BC111739,BX648672 NP_071401,CAI95136,CAI95137,CAI12921,CAI12923,EAW80591,EAW80592,EAW80593,EAW80594,AAG34912,BAB14933,BAB55046,BAB55125,BAG64052,BAG64089,CAD39009,AAH00791,AAH41655,AAI11698,AAI11740,CAI56708,Q5T8P6,Q7L643 Hs.558528 ARRS2|C13orf10|FLJ20957|MGC133295|MGC133296|PRO1777|RP11-255E21.1|SE70-2|ZC3H17 CTCL tumor antigen se70-2|OTTHUMP00000018539|RNA-binding motif protein 26|RNA-binding protein 26|acidic rich RS domain containing 2|chromosome 13 open reading frame 10|cutaneous T-cell lymphoma tumor antigen se70-2 protein-coding 1323694 RBM27 RNA binding motif protein 27 1580863 16964243,15741184,15489334,15372022,14702039,12477932,10718198,18655026,20379614 54439 NM_018989,AC011356,AC091959,AB037732,AK026358,AK074316,AK128738,AL833706,BC009537,BC029648,BC033524,BX647384 NP_061862,BAA92549,BAG54723,AAH09537,AAH33524,Q05DK9,Q9P2N5 Hs.61441 ARRS1|KIAA1311|Psc1 RNA-binding motif protein 27|RNA-binding protein 27|acidic rich RS domain containing 1 protein-coding 1322736 RBM28 RNA binding motif protein 28 18439547,17081119,16344560,15635413,15489334,14702039,12477932,12429849,11790298,9373149,8889548,8125298,20231366,18029348 55131 NM_018077,AC010655,AC018635,CH236947,CH471070,AK001239,AK222716,AK300500,BC013889,BU609187,CR594156,CR596407,DA566130,NG_015802,NM_001166135 NP_060547,EAL24314,EAW83643,EAW83644,BAA91575,BAD96436,BAG62214,AAH13889,Q9NW13,NP_001159607 Hs.274263 FLJ10377 2810480G15Rik|RNA-binding motif protein 28|RNA-binding protein 28 protein-coding 1350280 RBM3 RNA binding motif (RNP1, RRM) protein 3 This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif (RRM) domain. Expression of this gene is induced by cold shock and low oxygen tension. A pseudogene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized although some of these variants fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq] 1580863 20727170,15772651,15635413,15489334,15144186,15075239,12824175,12477932,9245737,15518812,8634703,19277990,18427544,16552754,15782174,19734850,19770690 5935 NM_006743,AC115618,CH471224,AA460548,AK000859,AK026664,AK289614,AK309137,AY203954,BC006825,BI523929,BQ429805,BX647914,CD559009,CR589973,CR591107,CR597294,CR601924,CR602242,CR604888,CR615516,CR615558,CR615647,CR618991,CR620824,CR621948,CR622284,CR626059,HB645627 NP_006734,EAW50765,EAW50766,EAW50767,EAW50768,BAB15519,BAF82303,AAP34477,AAH06825,P98179,Q6XYB6,Q6ZPC8,Q9H5V0,CBB98488 Hs.301404,Hs.713417 IS1-RNPL|RNPL OTTHUMP00000025802|RNA binding motif protein 3|RNA-binding motif protein 3|putative RNA-binding protein 3 protein-coding 1604982 RBM33 RNA binding motif protein 33 17081983,16344560,15489334,15342556,15146197,14702039,12853948,12690205,12477932,11181995,20936779 155435 NM_053043,AC009403,AC078834,AC092460,CH236954,CH471149,AK055460,AK055645,AK056415,AK301179,AK307515,AL137724,AL832196,BC011923,BC093947,BC093949,BP373239,CN402759,CR599014,DA459140,DA504982,DA947894 NP_444271,AAS02026,AAS01989,AAS07551,EAL23911,EAL23912,EAX04539,EAX04540,EAX04541,BAG62764,CAB70894,AAH11923,AAH93947,AAH93949,Q96EV2 Hs.591815 DKFZp434D1319|MGC20460|PRR8 RNA-binding motif protein 33|RNA-binding protein 33|proline rich 8|proline-rich protein 8 protein-coding 1602128 RBM34 RNA binding motif protein 34 17081983,16710414,15635413,15489334,15134903,12477932,12429849,7788527,17207965,18029348,20098747 23029 NM_001161533,NR_027762,AL133418,AL732292,CH471098,AK292362,BC029451,BQ000441,CB052493,CR609536,CR615831,NM_015014,CR621996,D38491 NP_055829,NP_001155005,CAI22959,CAI22960,CAI21936,EAW70005,EAW70006,EAW70007,BAF85051,AAH29451,BAA07503,P42696,ADQ32089 Hs.535224 KIAA0117 OTTHUMP00000039008|RNA-binding motif protein 34|RNA-binding protein 34 protein-coding 1318308 RBM38 RNA binding motif protein 38 1580863 20457941,17050675,19285943,15489334,12477932,12200376,11780052,20139978,20339536,19817877 55544 NM_017495,NM_183425,AL109955,CH471077,AF432218,BC018711,X75314 NP_059965,NP_906270,EAW75520,EAW75521,EAW75522,AAL99924,AAH18711,CAA53063,Q9H0Z9,ABM82920,ABM86110,CAX15039 Hs.236361 HSRNASEB|RNPC1|SEB4B|SEB4D|dJ800J21.2 CLL-associated antigen KW-5|OTTHUMP00000031368|OTTHUMP00000210222|OTTHUMP00000210223|RNA-binding motif protein 38|RNA-binding protein 38|RNA-binding region (RNP1, RRM) containing 1|RNA-binding region containing protein 1|RNA-binding region-containing protein 1|rna-binding region (rnp1, rrm) containing 1|ssDNA binding protein SEB4|ssDNA-binding protein SEB4 protein-coding 1320763 RBM39 RNA binding motif protein 39 The protein encoded by this gene is an RNA binding protein and possible splicing factor. The encoded protein is found in the nucleus, where it colocalizes with core spliceosomal proteins. Studies of a mouse protein with high sequence similarity to this protein suggest that this protein may act as a transcriptional coactivator for JUN/AP-1 and estrogen receptors. Multiple transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq] 1580863 15798186,18029348,8227358,19342371,18753212,17081983,15747776,15694343,15635413,14667819,11704680,12477932,11780052,17643375 9584 NM_184234,NM_004902,AL357374,CH471077,AK126158,AK130283,AK297060,AK297520,AK299165,AK299678,AK303910,AL833168,BC008204,BC107886,BC131543,BC141835,BC158172,BI460666,BX537770,BX640714,BX640812,CR590141,CR590994,CR619114,CR749443,L10910,L10911 NP_909122,NP_004893,CAC11118,CAC11119,CAI13605,CAI13606,CAI13607,CAI13608,CAQ08573,CAQ08574,EAW76159,EAW76160,EAW76161,EAW76162,EAW76163,EAW76164,EAW76165,EAW76166,EAW76167,BAG54289,BAG59582,BAH12603,BAG61212,BAG61586,BAG64839,AAI31544,AAI41836,AAI58173,CAD97833,CAE45833,CAE45890,CAH18281,AAA16346,AAA16347,Q14498,Q5QP22,Q5QP23,Q68DD9,Q6MZY7,Q6N037,Q7Z3L0 Hs.282901 CAPER|CAPERalpha|CC1.3|DKFZp781C0423|FLJ44170|HCC1|RNPC2|fSAP59 OTTHUMP00000063388|OTTHUMP00000196683|RNA-binding motif protein 39|RNA-binding protein 39|RNA-binding region (RNP1, RRM) containing 2|RNA-binding region-containing protein 2|coactivator of activating protein-1 and estrogen receptors|functional spliceosome-associated protein 59|hepatocellular carcinoma protein 1|rna-binding region (rnp1, rrm) containing 2|splicing factor CC1.3|splicing factor HCC1 protein-coding 1315765 RBM4 RNA binding motif protein 4 9169144,19416963,18708123,17284590,16934801,16777844,16344560,16260624,15592455,15489334,14702039,12628928,12477932,12469345,11790298,9373149,8125298,18276110,15159402,12508107,15231748,18723113,19801630,8889548 5936 CR625125,DA046115,U89505,AP001157,CH471076,AK097592,AK225071,AK303984,AL832566,BC000307,BC021120,BC032735,BC064960,CR591279,CR595390,CR597902,CR601805,CR605201,CR606266,CR607947,CR610008,CR610607,CR611361,CR611868,CR612821,CR613406,CR615125,CR616076,CR616840,CR617447,CR617646,CR617820,CR618589,CR622017,CR623100,CR624930,NM_002896,AF087999,AK094046,AW575232,CB242056,DC366746,NM_001198843,NM_001198844 AAC51293,Q9BWF3,ABZ92531,NP_002887,EAW74555,EAW74556,BAG53492,BAG64902,CAH10593,AAH00307,AAH21120,AAH32735,AAH64960,NP_001185772,NP_001185773 Hs.533712,Hs.523822,Hs.659075 DKFZp547K0918|FLJ36727|LARK|MGC75138|RBM4A|ZCCHC21|ZCRB3A OTTHUMP00000205224|OTTHUMP00000205225|OTTHUMP00000205226|RNA-binding motif protein 4|RNA-binding motif protein 4a|RNA-binding protein 4|hLark|lark homolog|transcriptional coactivator CoAZ|zinc finger CCHC-type and RNA binding motif 3A protein-coding 1605361 RBM41 RNA binding motif protein 41 15489334,14702039,12477932,16189514,15772651,16344560 55285 NM_018301,AL390039,CH471120,AK001878,AK023732,AL832966,BC006986,DA255574,NG_016385,NM_001171080 NP_060771,CAC19636,CAI41563,CAI41564,EAX02722,EAX02723,EAX02724,BAA91957,BAB14660,AAH06986,Q5JSN9,Q96IZ5,NP_001164551 Hs.139053 FLJ11016|FLJ13670|RP13-383K5.1|bB383K5.1 OTTHUMP00000023795|RNA-binding motif protein 41|RNA-binding protein 41 protein-coding 1601847 RBM42 RNA binding motif protein 42 16713569,16189514,12477932,19170760,19615732 79171 NM_024321,AC002115,AK301669,BC002868,BC004204,BC031682,CR598528,CR599323,CR599496,CR599588,CR605060,CR609008,CR609262,CR609383,CR610705,CR612815,CR615324,CR617718,CR618432,CR619059,CR619252,CR620548,CR620715,CR620876,CR620943,CR621515,CR623034 NP_077297,AAB57629,BAG63142,AAH02868,AAH04204,AAH31682,Q9BTD8 Hs.5086 MGC10433 RNA-binding motif protein 42|RNA-binding protein 42 protein-coding 1604694 RBM43 RNA binding motif protein 43 16344560,14702039,12477932 375287 NM_198557,AC009311,AC018731,CH471058,AK127552,BC136410,BC136411,BX337439,DA658209 NP_940959,EAX11514,BAC87031,AAI36411,AAI36412,Q6ZSC3 Hs.302442 C2orf38|FLJ45645 RNA-binding motif protein 43|RNA-binding protein 43 protein-coding 1625816 RBM44 RNA binding motif protein 44 18029348,16344560,14702039,12477932 375316 NM_001080504,AC012076,AI885906,AK097730,AK130316,BC126111,BX648107,DB087405 NP_001073973,BAC05154,BAC85324,AAI26112,Q6ZP01,Q8N7S3,AAI56420 Hs.607265,Hs.720233 FLJ40411 OTTHUMP00000202786|RNA-binding motif protein 44|RNA-binding protein 44 protein-coding 730942 RBM45 RNA binding motif protein 45 12220514,15489334,12477932,19615732,18029348,17207965 129831 NM_152945,AC011238,AC011998,CH471058,AB036991,AF526533,AK126575,BC037837,BC066549 NP_694453,EAX11044,EAX11045,EAX11046,BAC16207,AAM88417,AAH66549,Q8IUH3,ADQ31975 Hs.377257 DRB1|FLJ44612|MGC42237 OTTHUMP00000205296|RB-1|RNA-binding motif protein 45|RNA-binding protein 45|developmentally regulated RNA-binding protein 1|developmentally-regulated RNA-binding protein 1|putative RNA binding protein RB-1 protein-coding 1602830 RBM46 RNA binding motif protein 46 16344560,12477932 166863 NM_144979,AC009567,CH471056,AK125877,AK302720,BC028588,DB088314,HC044665 NP_659416,EAX04902,EAX04903,BAG54260,BAG63939,AAH28588,Q8TBY0,CBH30662 Hs.133095 CT68|MGC27016 OTTHUMP00000220357|OTTHUMP00000220358|RNA-binding motif protein 46|cancer/testis antigen 68|probable RNA-binding protein 46 protein-coding 1642917 RBM47 RNA binding motif protein 47 16712791,16344560,16341674,15342556,12477932,20379614 54502 NM_001098634,NM_019027,AC098869,AC112717,AF261889,CH471069,AF262323,AK000280,AK024997,AK025296,AK304206,BC034402,BC071585,BC126261,BC143942,BM837005,BP332501,BX648404,CB124502,DA861151 NP_001092104,NP_061900,AAM21972,EAW92964,EAW92965,EAW92966,EAW92967,EAW92968,EAW92969,AAM21973,BAA91049,BAH14133,AAH34402,AAI26262,AAI43943,A0AV96,ADR83083 Hs.518727 DKFZp686F02235|FLJ20273|FLJ21344|FLJ21643|NET18 OTTHUMP00000158755|OTTHUMP00000218858|RNA binding motif protein 47|RNA-binding motif protein 47|RNA-binding protein|RNA-binding protein 47 protein-coding 1351687 RBM4B RNA binding motif protein 4B 737633,1580863 17081983,16189514,15489334,14702039,12628928,12477932,12429849,16169070,20936779 737633 83759 NM_031492,AP001157,CH471076,AK095158,BC003503,BC004951,CR591230,CR614869 NP_113680,EAW74558,BAG52995,AAH03503,AAH04951,Q9BQ04 Hs.618713 MGC10871|RBM30|RBM4L|ZCCHC15|ZCRB3B RNA binding motif protein 30|RNA-binding motif protein 30|RNA-binding motif protein 4B|RNA-binding protein 30|RNA-binding protein 4B|zinc finger CCHC-type and RNA binding motif 3B protein-coding 1312863 RBM5 RNA binding motif protein 5 1580863 12036935,10949932,10508479,10497265,10486216,16945339,12226669,20525852,18029348,19559772,10352938,18840686,18951082,18851835,18038152,17908320,17606309,17081983,16927403,16585163,16546166,16169070,15489334,15338470,15192330,14702039,12581154,12477932 10181 NM_005778,AC104450,CH471055,U73168,AB208813,AF091263,AF103802,AF107493,AK097195,AK297249,AK297445,AK302766,AK314032,BC002957,CR618011,CR618916,U23946,AL701303,BQ899199,NR_036627 NP_005769,EAW65040,EAW65041,EAW65042,AAB42216,BAD92050,AAD04159,AAF02422,AAF99551,BAG59728,BAG59871,BAG63975,BAG36742,AAA99715,P52756,Q59HE6,AAI56349,AAI57103 Hs.439480 FLJ39876|G15|H37|LUCA15|RMB5 RNA-binding motif protein 5|RNA-binding protein 5|putative tumor suppressor LUCA15|renal carcinoma antigen NY-REN-9 protein-coding 1342651 RBM6 RNA binding motif protein 6 1580863 16344560,10352938,17908320,17360941,17081983,16964243,15302935,14702039,12477932,11085536,10486216,10353602,9500467,21102462 10180 AK096765,AK124030,AK298108,AK303371,DA068167,NM_001167582,NM_005777,AC104450,AC105935,CH471055,AF042857,AF069517,AF091264,AK093836,AK291719,AK308794,AL832236,AY216800,BC012112,BC030057,BC046643,BX648535,U50839 BAC85756,BAG60393,BAG64428,NP_001161054,Q6ZVV4,NP_005768,EAW65039,AAC05826,AAC21578,AAD04160,BAG52768,BAF84408,AAO91806,AAH46643,AAC35207,P78332,Q6K043,Q86SS3 Hs.696735 3G2|DEF-3|DEF3|DKFZp686B0877|FLJ36517|FLJ39446|FLJ42036|HLC-11|NY-LU-12|g16 OTTHUMP00000210492|OTTHUMP00000210499|OTTHUMP00000210501|RNA-binding motif protein 6|RNA-binding protein 6|RNA-binding protein DEF-3|lung cancer antigen NY-LU-12|lung cancer protooncogene 11 protein-coding 1317542 RBM7 RNA binding motif protein 7 1580863 16964243,16189514,15489334,15302935,14702039,12634307,12477932,9373149,8125298,19447967,17207965 10179 NM_016090,AP002373,CH471065,AB209753,AF156098,AK002015,AK225615,AK225667,AK312619,BC013320,BC034381,BC070262,CR592590,CR593114,CR604871 NP_057174,EAW67246,EAW67247,EAW67248,BAD92990,AAD39257,BAA92036,BAG35505,AAH34381,AAH70262,Q59EQ8,Q6IRX3,Q9Y580,ADQ31580 Hs.7527 FLJ11153 RNA-binding motif protein 7|RNA-binding protein 7 protein-coding 1320809 RBM8A RNA binding motif protein 8A This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. Two alternative start codons result in two forms of the protein, and this gene also uses multiple polyadenylation sites. [provided by RefSeq] 1580863 11030346,18026120,19410547,12226669,11013075,19254694,18503751,18243119,17456004,17081983,16964243,16931718,16501559,16303743,16209946,16189514,16170325,16100109,16083285,15635413,15489334,15302935,14730019,14625303,12944400,12781131,12730685,12718880,12477932,12093754,12054603,11991638,11707413,11707068,11696323,11546874,11546873,11447110,11118221,11042152,11004516,10662555,9933612,20098747,18029348,19615732 9939 AF403012,AL160282,CH471244,CQ783804,AF127761,AF161463,AF182415,AF198620,AF231511,AF299118,AK075009,AL049219,BC017088,BC017770,BC071577,CR541805,NM_005105,CR541823 NP_005096,AAL26999,EAW71418,EAW71419,CAF86870,AAD21089,AAF29078,AAG14951,AAF37551,AAG16781,AAG27091,BAG52051,AAH17088,AAH17770,CAG46604,CAG46622,Q8WWE9,Q9Y5S9,ACT64417,ACT64418 Hs.356873 BOV-1A|BOV-1B|BOV-1C|MDS014|RBM8|RBM8B|Y14|ZNRP|ZRNP1 BOV-1|RNA binding motif protein 8B|RNA-binding motif protein 8A|RNA-binding protein 8A|RNA-binding protein Y14|binder of OVCA1-1|ribonucleoprotein RBM8|ribonucleoprotein RBM8A protein-coding 1352463 RBM8B RNA binding motif protein 8B pseudogene 11707068,11013075 112846 NG_002415,AF403013,AL132778 pseudo 1323505 RBM9 RNA binding motif protein 9 This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11875103,19136955,18794351,18573884,18573872,17715393,16713569,16537540,16344560,16260614,16189514,15489334,15461802,14702039,12529303,12477932,11401487,10591208,18029348,20131247,20936779 23543 NM_001082578,NM_001082579,NM_014309,NM_001082577,NM_001031695,NM_001082576,AL049748,AL079295,CH471095,AF229058,AK055213,AK057055,AK091398,AK091695,AK130730,AK291460,AK314632,AL009266,AL832604,AM419009,AY072786,AY960684,BC013115,BC025281,CR456559,CR599679,CR600481,CR619660,DA493176,DB461443,DQ778625 NP_001076047,NP_001076048,NP_055124,NP_001076046,NP_001026865,NP_001076045,CAI19059,EAW60072,EAW60073,EAW60074,EAW60075,EAW60076,EAW60077,EAW60078,EAW60079,AAL71905,BAB70875,BAF84149,CAA15842,CAL91352,AAL67150,AAX84843,AAH13115,AAH25281,CAG30445,ABG77459,O43251,CAK54590,CAK54889,ABM82646,ABM85823,ABM85824 Hs.282998 FOX2|Fox-2|HNRBP2|HRNBP2|RBM9|RTA|dJ106I20.3|fxh OTTHUMP00000197899|OTTHUMP00000198113|OTTHUMP00000198115|RNA binding motif protein 9|RNA-binding motif protein 9|RNA-binding protein 9|fox-1 homolog B|fox-1 homologue|hexaribonucleotide binding protein 2|hexaribonucleotide-binding protein 2|repressor of tamoxifen transcriptional activity protein-coding 1317165 RBMS1 RNA binding motif, single stranded interacting protein 1 This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq] 1580863 17207965,20889853,8041632,7838710,15815621,15489334,15146197,14702039,12477932,10869558,9373149,8871567,8134115,8125298,19451621,20379614,20418489 5937 NM_002897,AC092153,AC104598,AC131754,AC133105,CH471058,D82361,AI675628,AK127157,NM_016836,AK225887,AK297812,AK309949,AL117617,BC012992,BC012993,BC018951,BC037862,BC051889,BC065192,BC069687,BC069706,BC069763,BC080620,BX648246,CN296957,CN399839,CR591760,CR598283,CR598466,CR606614,D28482,L11289,X64652,X77494,GN344101,GN344105 ADQ32749,NP_058520,NP_002888,AAX93094,AAX93095,AAX93183,AAY15005,EAX11381,EAX11382,EAX11383,EAX11384,EAX11385,EAX11386,EAX11387,EAX11388,BAA19554,BAA19555,BAA20858,BAG60150,AAH12992,AAH12993,AAH18951,AAH65192,AAH69687,AAH69706,AAH69763,AAH80620,BAA05841,CAA45923,CAA54628,P29558,Q5CZ65,Q5CZ66,Q9UEK5,CAY55986,CAY55988 Hs.470412,Hs.708357 C2orf12|DKFZp564H0764|HCC-4|MGC15146|MGC3331|MGC70597|MGC97258|MGC97270|MGC97282|MGC99543|MSSP|MSSP-1|MSSP-2|MSSP-3|SCR2|YC1 OTTHUMP00000205156|OTTHUMP00000205157|OTTHUMP00000205158|RNA-binding motif, single-stranded-interacting protein 1|c-myc gene single strand binding protein 2|cervical cancer oncogene 4|single-stranded DNA-binding protein MSSP-1|suppressor of CDC2 with RNA-binding motif 2|suppressor of cdc 2 (cdc13) with RNA binding motif 2 protein-coding 1350787 RBMS1P RNA binding motif, single stranded interacting protein 1, pseudogene 8871567 5938 NG_000866,AC078889,D82351 MSSP1|RBMS1P pseudo 1312477 RBMS2 RNA binding motif, single stranded interacting protein 2 The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq] 1580863 8041632,15489334,14702039,12477932,8889548,1533657,16169070 5939 NM_002898,AC090681,AC097104,CH471054,AK096412,AK097342,AK125252,AK308885,AL698629,BC027863,BC072679,BM929514,CF890834,CR594007,CR597503,CR611083,CR612928,D28483,DC382164,AK293315,AK299580,AK304540 NP_002889,EAW96947,EAW96948,AAH27863,AAH72679,BAA05842,Q15434,BAH11489,BAH13073,BAH14210 Hs.505729,Hs.683360 FLJ39093|FLJ40023|FLJ43262|SCR3 RNA-binding motif, single-stranded-interacting protein 2|suppressor of CDC2 with RNA-binding motif 3 protein-coding 1641974 RBMS2P RNA binding motif, single stranded interacting protein 2 pseudogene 643427 NG_008697,AC073655 RBMS2P pseudo 1343809 RBMS3 RNA binding motif, single stranded interacting protein The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17903296,17586524,15489334,14702039,12477932,10675610,17903298,19654303,20379614 27303 NM_001003793,NM_001003792,NM_014483,AC012262,AC021068,AC092795,AC092796,AC097633,AC098650,AC099048,CH471055,AA428240,AF023259,AK097311,AK292789,AW779062,AY236871,AY236872,BC117315,AK093863,BC143521,CA448021,CR608583,NM_001177711,NM_001177712 NP_001003793,NP_001003792,NP_055298,EAW64405,EAW64406,EAW64407,EAW64408,AAC63910,BAF85478,AAP75555,AAP75556,AAI17316,Q6XE24,AAI43522,NP_001171182,NP_001171183 Hs.221436 FLJ36544 OTTHUMP00000208495|OTTHUMP00000208498|OTTHUMP00000208500|RNA-binding motif, single-stranded-interacting protein 3|RNA-binding protein protein-coding 1349812 RBMX RNA binding motif protein, X-linked This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified but their biological nature has not been determined. [provided by RefSeq] 1580863 20562859,10332027,7692398,16189514,17353931,12226669,18541147,18445477,17387044,17081983,16964243,16677675,16552754,16491274,15782174,15772651,15489334,15302935,15144186,14702039,12477932,12388589,12165565,11991638,11420617,11101529,10749975,10391207,10391206,8889549,1551662,11118435,14559993,20211142,16344560,17643375,19615732 27316 NM_002139,AF266723,AL683813,CH471150,AA160187,AK091520,AK096015,AK097941,AK304573,AK304868,AK309911,AY464692,BC006550,BC007435,BU587845,BX647131,CR597391,CR599705,CR605777,CR607658,CR613147,CR616578,CR616933,Z23064,BM147410,BM993214,DA925805,DC337568,NG_012918,NM_001164803,NR_028476,NR_028477 NP_002130,AAK58567,CAI39448,EAW88453,EAW88454,EAW88455,EAW88456,EAW88457,BAG52377,BAC04674,BAG65364,BAG65606,AAR28036,AAH06550,AAH07435,CAA80599,P38159,Q5JQ65,Q8N8Y7,ABM84137,ABM87539,CAI39447,NP_001158275 Hs.380118,Hs.710162 HNRPG|RBMXP1|RBMXRT|RNMX|hnRNP-G RNA binding motif protein, X chromosome|RNA-binding motif protein, X chromosome|glycoprotein p43|heterogeneous nuclear ribonucleoprotein G|hnRNP G protein-coding 1345969 RBMX2 RNA binding motif protein, X-linked 2 737633,1580863 17081983,15772651,15489334,15302935,12477932,10810093 737633 51634 AL035423,CH471107,AF078865,AF151837,AK292855,AL050405,BC003676,BC010036,BC012345,BC033750,BC040433,BC050707,BC063517,BC105582,CR601085,NM_016024 NP_057108,CAI42443,CAI42444,EAX11799,EAX11800,AAD44497,AAD34074,BAF85544,CAB43745,AAH03676,AAH33750,AAI05583,Q05DU0,Q0VGM7,Q5JY83,Q9Y388,Q9Y6G0 Hs.727603 CGI-79 2810411A03Rik|RNA-binding motif protein, X-linked 2 protein-coding 1603234 RBMXL1 RNA binding motif protein, X-linked-like 1 This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq] 14739461,16344560,16201836,12477932,10737800,19165527 494115 NM_019610,AL139416,CH471097,DQ120650,AL832554,AL832785,BC012942,BF901720,CR743094,DA010727,DA216732,DA390224,DC397531,NM_001162536 NP_001156008,NP_062556,CAI21693,CAI21694,EAW73155,EAW73156,ABB92435,CAI46148,AAH12942,Q2VIN3,Q5T9T9,Q96E39 Hs.481898 DKFZp547N1117|DKFZp667D0223|FLJ32614|RBM1 RNA binding motif protein, X-linked-like 1 protein-coding 1603656 RBMXL2 RNA binding motif protein, X-linked-like 2 This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq] 19893608,17081983,15489334,15302935,12477932,12389739,10958650,10749975 27288 NM_014469,AC100875,AF279289,CH471064,AF069682,AK292271,BC029295,BC057796,BX091666,HC007026,HC044513 NP_055284,AAF82129,EAW68665,AAC24858,BAF84960,AAH57796,O75526,CBH19318,CBH30586 Hs.121605 HNRNPG-T|HNRNPGT|HNRPGT RNA-binding motif protein, X-linked-like-2|heterogeneous nuclear ribonucleoprotein G T|hnRNP G-T|testes specific heterogenous nuclear ribonucleoprotein G T|testes-specific heterogenous nuclear ribonucleoprotein G-T|testis-specific heterogeneous nuclear ribonucleoprotein G-T protein-coding 2303888 RBMXL3 RNA binding motif protein, X-linked-like 3 16344560,14702039 139804 NM_001145346,AL589786,CH471120,AK097568,AK301904,DB069571 NP_001138818,EAX02620,BAG63332 Hs.376008 CXorf55|FLJ40249|FLJ54427 OTTHUMP00000212442|RNA binding motif protein, X-linked-like 3 protein-coding 1351947 RBMXP1 RNA binding motif protein, X-linked pseudogene 1 16707624,10391206,7692398,1551662 3186 NG_001022,AL121573 HNRNP-G|HNRPG pseudo 1605160 RBMXP2 RNA binding motif protein, X-linked pseudogene 2 441391 NG_004760,AL390844 pseudo 2291760 RBMXP3 RNA binding motif protein, X-linked pseudogene 3 143543 NG_007349,AP001646 pseudo 2291807 RBMXP4 RNA binding motif protein, X-linked pseudogene 4 100132580 NG_009740,AC004051 pseudo 1342867 RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1 This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq] 1580863 19893608,20016065,12477932,12376959,11869379,11149922,10823932,10749975,9547301,8875892,17207965,12815422,8269511,9598316,17881721,17453684,17318228,17001072,15489334,15184870 5940 NM_005058,NG_004832,NG_012805,AC010141,BC047768,BC070298,BC146853,BU568309,BX119894,X76059 ADQ32030,NP_005049,AAH47768,AAH70298,AAI46854,CAA53659,Q13369,Q15414 Hs.380450 MGC181956|RBM1|RBM2|RBMY|RBMY1C|YRRM1|YRRM2 OTTHUMP00000040529|RNA binding motif protein 2|RNA binding motif protein, Y chromosome, family 1, member A1|RNA-binding motif protein 1|RNA-binding motif protein 2|RNA-binding motif protein, Y chromosome, family 1 member A1/C|hRBMY|y chromosome RNA recognition motif 1 protein-coding 1351846 RBMY1A2 RNA binding motif protein, Y-linked, family 1, member A2 9598316 5941 1347930 RBMY1A3P RNA binding motif protein, Y-linked, family 1, member A3 pseudogene 12815422,9598316 286557 NR_001547,AC006158,AF527837 Hs.567833 pseudo 1354434 RBMY1B RNA binding motif protein, Y-linked, family 1, member B This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq] 15184870,12815422,12477932,9598316,8875892,8269511,10749975 378948 NM_001006121,NG_004832,AC010141,BC144577 NP_001006121,AAI44578,A6NDE4 Hs.380450,Hs.725744 RNA-binding motif protein, Y chromosome, family 1 member B protein-coding 1349852 RBMY1C RNA binding motif protein, Y-linked, family 1, member C 15489334,10749975,9598316,8269511 5942 U36604,U36605,U36606,U36607,U36608,U36609,U36610 AAC16917,AAC16918 RNA binding motif protein, Y chromosome, family 1, member C|RNA binding motif protein, Y-linked, family 1, member C protein-coding 1347232 RBMY1D RNA binding motif protein, Y-linked, family 1, member D This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq] 15184870,12815422,12477932,9598316,8875892,8269511 378949 NM_001006120,NG_004755,AC007322 NP_001006120,P0C7P1 Hs.380450 OTTHUMP00000040532|RNA-binding motif protein, Y chromosome, family 1 member D protein-coding 1342986 RBMY1E RNA binding motif protein, Y-linked, family 1, member E This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq] 15184870,12815422,12477932,9598316,8875892,8269511 378950 NM_001006118,NG_004755,AC007322 NP_001006118,A6NEQ0,AAI60023 Hs.725744 OTTHUMP00000040533|RNA-binding motif protein, Y chromosome, family 1 member E protein-coding 1352327 RBMY1F RNA binding motif protein, Y-linked, family 1, member F This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. 737633 15489334,15184870,12815422,12477932,10749975,9598316,8875892,8269511 737633 159163 NM_152585,NG_004755,AC023342,U35882,BC030018,BC152392,X76060 NP_689798,AAH30018,AAI52393,CAA53660,Q15415,ABM82125 Hs.567746 MGC33094|RBMY1J|YRRM2 RNA-binding motif protein, Y chromosome, family 1 member F/J|y chromosome RNA recognition motif 2 protein-coding 1353734 RBMY1G RNA binding motif protein, Y-linked, family 1, member G 9598316 5943 4889082 RBMY1GP RNA binding motif protein, Y-linked, family 1, member G, pseudogene 9847074 100287769 AC006158,NG_027927 pseudo 1605123 RBMY1H RNA binding motif protein, Y-linked, family 1, member H 9598316 5944 U36612,U36613,U36614,U36615,U36611,NG_004832,AC010141 AAC16919,AAC16920 pseudo 1345023 RBMY1J RNA binding motif protein, Y-linked, family 1, member J This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq] 8269511,15184870,12815422,9598316,8875892 378951 NM_001006117,NG_004755,AC007320,AK313597 NP_001006117,Q15415,AAI48577,ABM85308,BAG36363 Hs.567746 RBMY1F RNA-binding motif protein, Y chromosome, family 1 member F/J|y chromosome RNA recognition motif 2 protein-coding 1605122 RBMY2AP RNA binding motif protein, Y-linked, family 2, member A pseudogene 12815422,9598316 5945 NG_004755,AC007322 RBMY2A pseudo 1606648 RBMY2BP RNA binding motif protein, Y-linked, family 2, member B pseudogene 12815422,9598316 375850 NG_004755,AC008175,AC016694,AF026563,U36616,U36617,U36618,U36619,U36620,U36621 AAC16921,AAC16922,Q15381 RBMY2B pseudo 1604234 RBMY2CP RNA binding motif protein, Y-linked, family 2, member C pseudogene 12815422 140123 NG_004755,AC009947 RBMY2 pseudo 1605804 RBMY2DP RNA binding motif protein, Y-linked, family 2, member D pseudogene 12815422 347598 NG_004755,AC006991 RBM|RBMY2 pseudo 1348556 RBMY2EP RNA binding motif protein, Y-linked, family 2, member E pseudogene 12815422,9344660 159125 NR_001574,NG_004832,AC010086,U94388 Hs.567745 pseudo 1348708 RBMY2FP RNA binding motif protein, Y-linked, family 2, member F pseudogene 737633,1580863 12815422,12477932,9344660 737633 159162 NR_002193,NG_004755,AC007320,CH878735,BC026077,U94387 EAW61216 Hs.684794,Hs.711527 MGC26641 pseudo 1344398 RBMY2GP RNA binding motif protein, Y-linked, family 2, member G pseudogene 12815422 378952 NG_003081,AC006335 pseudo 1354231 RBMY2HP RNA binding motif protein, Y-linked, family 2, member H pseudogene 12815422 378953 NG_003082,AC007274 pseudo 1344730 RBMY2JP RNA binding motif protein, Y-linked, family 2, member J pseudogene 12815422 378955 NG_003083,AC016749 pseudo 1345287 RBMY2KP RNA binding motif protein, Y-linked, family 2, member K pseudogene 12815422 140100 NG_003074,AC051663 pseudo 1350122 RBMY2MP RNA binding motif protein, Y-linked, family 2, member M pseudogene 12815422 140101 NG_003075,AC007967 pseudo 1353982 RBMY2NP RNA binding motif protein, Y-linked, family 2, member N pseudogene 12815422,9847074 378956 AC006986,AC010891,NG_003084 pseudo 1345272 RBMY2OP RNA binding motif protein, Y-linked, family 2, member O pseudogene 12815422 379005 NG_003085,AC006986 pseudo 1347320 RBMY2QP RNA binding motif protein, Y-linked, family 2, member Q pseudogene 12815422 379006 NG_003086,AC006987 pseudo 1604939 RBMY2SP RNA binding motif protein, Y-linked, family 2, member S pseudogene 12815422 379007 NG_004832,AC010086 pseudo 1604938 RBMY2TP RNA binding motif protein, Y-linked, family 2, member T pseudogene 12815422 379008 NG_004832,AC010086 pseudo 1604937 RBMY2UP RNA binding motif protein, Y-linked, family 2, member U pseudogene 12815422,9847074 379009 NG_004755,AC023342,AC025227 pseudo 1604936 RBMY2VP RNA binding motif protein, Y-linked, family 2, member V pseudogene 12815422 379010 NG_004755,AC007320 pseudo 1604935 RBMY2WP RNA binding motif protein, Y-linked, family 2, member W pseudogene 12815422 379011 NG_004755,AC010080 pseudo 1604934 RBMY2XP RNA binding motif protein, Y-linked, family 2, member X pseudogene 12815422 379012 NG_004755,AC016698 pseudo 1604933 RBMY2YP RNA binding motif protein, Y-linked, family 2, member Y pseudogene 12815422 379024 NG_004755,AC006386 pseudo 1349648 RBMY3AP RNA binding motif protein, Y-linked, family 3, member A pseudogene 12815422,9344660 64593 NR_001573,AC025819,U94385,U94386 Hs.404172 RBMY3P|RBMY4P|SPATA14 pseudo 732391 RBP1 retinol binding protein 1, cellular This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 1332671,1322170,19052772,18343808,17593084,15865448,15608670,15451426,15175163,15094224,15009723,12883492,12826154,12631600,12477932,12111198,11274389,11118440,10203351,9858824,9452451,9005841,8889548,7666002,7556191,3472205,3356192,2992469,2856408,1654334,19965581,19913121,20628086,19288010,20403997,21067480 5947 NM_002899,NM_001130992,NM_001130993,AC046134,CH471052,X07437,X07438,AK290315,AK309492,BC121052,BU734286,BX092411,CR541979,CR542005,CR602881,DC356836,DC394326,M11433,M36809 NP_002890,NP_001124464,NP_001124465,EAW79035,CAA30318,BAF83004,AAI21053,CAG46776,CAG46802,AAA60257,AAA35714,P09455,ACE87090,ACE86414 Hs.529571 CRABP-I|CRBP|CRBP1|CRBPI|RBPC CRBP-I|cellular retinol-binding protein I|retinol-binding protein 1|retinol-binding protein 1, cellular protein-coding 734415 RBP2 retinol binding protein 2, cellular RBP2 is an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. RBP2 may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq] 1580863 19850045,20403997,1115525,17207965,1654334,2992469,19147806,18076076,15489334,12477932,12016134,11274389,10072590,7657783,3029082,1322170,1542003,15583024 5948 NM_004164,AC097103,CH471052,AI076320,AK291978,AW772327,BC069296,BC069361,BC069396,BC069424,BC069447,BC069469,BC069513,BC069522,BX282005,U13831 ADQ32877,NP_004155,EAW79036,BAF84667,AAH69296,AAH69361,AAH69396,AAH69424,AAH69447,AAH69469,AAH69513,AAH69522,AAC50162,P50120,Q6ISL4 Hs.655516 CRABP-II|CRBP2|CRBPII|RBPC2 CRBP-II|OTTHUMP00000217142|cellular retinol-binding protein II|retinol-binding protein 2|retinol-binding protein 2, cellular protein-coding 735986 RBP3 retinol binding protein 3, interstitial Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq] 1580863 19823802,11511084,11161734,8702792,3827838,3743780,3455009,3170584,2907505,2792773,2402443,2303470,2542268,19193895,19074801,18266969,15713799,12477932,21067480 5949 NM_002900,AL731561,CH471251,J05253,M33875,X53044,BC039844,J03912,M22453 NP_002891,CAH74045,EAW50659,AAC18875,AAA59453,CAA37213,AAH39844,AAA59188,AAA36126,P10745,Q8IXN0 Hs.591928 D10S64|D10S65|D10S66|IRBP|RBPI interphotoreceptor retinoid-binding protein|interstitial retinol-binding protein|retinol-binding protein 3|retinol-binding protein 3, interstitial protein-coding 735251 RBP4 retinol binding protein 4, plasma This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq] 2311651,2302016,1601615,1601613,1580863 571335,10232633,18466349,17003346,10944490,16034410,5132677,19369430,19346786,19303000,19288010,19287041,19224430,19217438,19195734,19190263,19169049,19158194,19155083,19147488,19122345,19114616,19088257,12477932,12237133,11853533,11058747,10052934,9888420,8089102,7666002,6942701,6540172,6316270,3559267,3525470,3013795,2998779,2928844,2444024,2217163,1623143,574085,573217,20503483,17456573,12593674,19053019,19046959,19023195,19021760,19003725,18980783,18977339,18973209,18937078,18854400,18852328,18838136,18796616,18783798,18752671,18719670,18710473,18641048,18588869,18506842,18496666,18493106,18492757,18445670,18437353,18426863,18426837,18426814,18397979,18390799,18381580,18316031,18239568,18199128,18081728,18052678,18029348,17957146,17904683,17890490,17728376,17686833,17661007,17639305,17630267,17618858,17595259,17575262,17568782,17550959,17526940,17405846,17337499,17299074,17259477,17174134,17164313,17065684,17006670,16156801,15649951,15489334,15164054,14718574,12716133,19537932,20610143,20625434,20646597,20376890,20389103,19765959,12228058,15009723,16385451,18782570,19339013,19403191,19501859,19501863,19506831,19525859,19556974,19573524,19589139,19671994,19708829,19709697,19766271,19794289,19851303,19857477,19875582,19893506,19897788,19900011,19949653,20058618,20097162,20146659,20233518,986177,19820404,20819415,21106915 2311651,2302016,1601615,1601613 5950 NM_006744,NG_009104,AF025334,AF025335,AL356214,CH471066,X02775,X02824,BC020633,BX495987,X00129 NP_006735,AAC02945,AAC02946,CAH72328,EAW50065,EAW50066,EAW50067,EAW50068,CAA26553,CAB46489,AAH20633,CAA24959,P02753,ABM82307,ABM85484 Hs.50223 OTTHUMP00000020115|PRBP|RBP|plasma retinol-binding protein|retinol binding protein 4|retinol-binding protein 4|retinol-binding protein 4, interstitial protein-coding 1344722 RBP5 retinol binding protein 5, cellular 1580863 19131338,17497168,15489334,14702039,12479570,12477932,11274389,8125298,9373149 83758 NM_031491,AC018653,AC233309,CH471116,AF212239,AK096947,AK223378,AK311977,AY007436,BC029355 NP_113679,EAW88681,EAW88682,AAK14925,BAD97098,BAG34916,AAG09617,AAH29355,P82980,ABM83539,ABM86779 Hs.727672 CRBP-III|CRBP3|CRBPIII HRBPiso|cellular retinol-binding protein III|putative cellular retinol-binding protein CRBP III|retinol-binding protein 5|retinol-binding protein 5, cellular protein-coding 1348730 RBP7 retinol binding protein 7, cellular Due to its chemical instability and low solubility in aqueous solution, vitamin A requires cellular retinol-binding proteins (CRBPs), such as RBP7, for stability, internalization, intercellular transfer, homeostasis, and metabolism.[supplied by OMIM] 1580863 17207965,16710414,15489334,12477932,12177003 116362 AL590639,AL603962,CH471130,AF399927,AK312027,AY145438,BC033883,BC063013,NM_052960 ADQ33098,NP_443192,CAI14684,CAI14685,CAI16811,EAW71637,EAW71638,AAK85409,BAG34964,AAN61071,AAH33883,AAH63013,Q8N4L3,Q96R05 Hs.422688 CRBP4|CRBPIV|MGC70641 CRABP-IV|CRABP4|OTTHUMP00000001730|cellular retinoic acid-binding protein 4|cellular retinoic acid-binding protein IV|putative cellular retinol-binding protein CRBP IV|retinoid binding protein 7|retinoid-binding protein 7 protein-coding 1321529 RBPJ recombination signal binding protein for immunoglobulin kappa J region 1581297,2302204,2306423 9874765,10713164,8406481,19240061,19237563,19147558,18332109,18239137,18155729,17513780,17513037,17434929,17284587,17245125,17070841,17055026,16873269,16530044,16439682,16399505,16378632,16354684,16287852,15987768,15710417,15489334,15194757,15187023,14702039,14701863,14645224,14611647,14570916,12832621,12477932,12374742,11748221,11518718,11509665,11404076,10747963,10637481,10508479,9694793,9290259,9111040,9032325,8895530,8749394,7651391,7625272,2556644,10644367,12644465,15546612,8676443,16763620,19247952,19487031,19776126,19838210,19969318,20006367,20028974,20346360,20379614,20453842,10708423,20973039,20511547 1581297,2302204,2306423 3516 CR623063,CR624016,CR625719,D14041,L07872,L07874,L07875,L07876,Z36843,NM_203283,NM_203284,NM_015874,AC093637,AC097109,CH471069,L08904,AK056944,AK126357,AK302230,AK303244,AK311419,AL600045,BC020780,BC053531,BC053568,BC064976,BE269143,BM472788,BM555733,BM560796,BQ216033,CD653684,CR597051,CR598925,CR603040,CR612633,CR620986,NM_005349 BAA21773,AAA60258,AAA16253,AAA16254,AAA16356,Q06330,Q14663,ABZ92014,ACE87806,ACT64469,NP_005340,NP_976028,NP_976029,NP_056958,EAW92846,EAW92847,EAW92848,EAW92849,AAA91836,BAG63584,BAH13924,AAH20780,AAH64976 Hs.479396 CBF1|IGKJRB|IGKJRB1|KBF2|MGC61669|RBP-J|RBPJK|RBPSUH|SUH|csl CBF-1|H-2K binding factor-2|OTTHUMP00000123441|OTTHUMP00000217971|OTTHUMP00000217973|RBP-J kappa|RBP-JK|immunoglobulin kappa J region recombination signal binding protein 1|j kappa-recombination signal-binding protein|recombining binding protein suppressor of hairless|recombining binding protein suppressor of hairless (drosophila)|renal carcinoma antigen NY-REN-30|suppressor of hairless homolog protein-coding 1312429 RBPJL recombination signal binding protein for immunoglobulin kappa J region-like In mouse, recombining binding protein L (RBP-L) is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signalling pathway transcription factor RBP-J. However, unlike RBP-J, RBP-L does not interact with Notch receptors. RBP-L has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2 (EBNA2). The protein encoded by this gene is similar in sequence to the mouse RPB-L protein and Drosophila suppressor of hairless protein. [provided by RefSeq] 1580863 9929984,16354684,12477932,11780052,10644998,9111338 11317 NM_014276,AL021578,CH471077,AB024964,AB026048,AB027710,BC030213,BM311999 NP_055091,CAI21078,CAI21079,CAI21080,EAW75863,EAW75864,EAW75865,BAA88232,BAA86121,BAA87051,Q9UBG7,AAI52896,AAI56876 Hs.248217 RBP-L|RBPSUHL|SUH|SUHL recombining binding protein suppressor of hairless (drosophila)-like|recombining binding protein suppressor of hairless-like protein|transcription factor RBP-L protein-coding 1347940 RBPJP1 RBPJ pseudogene 1 9290259,8406481,7873751 100310842 L07873,NG_013295 IGKJRBP1|RBPSUHP1 recombining binding protein suppressor of hairless (drosophila) pseudogene 1 pseudo 1351653 RBPJP3 RBPJ pseudogene 3 7873751 58164 NG_001292,L34543 K2|RBPSUHP3 recombining binding protein suppressor of hairless (drosophila) pseudogene 3 pseudo 1349034 RBPJP4 RBPJ pseudogene 4 7873751 58163 NG_001291,L34544 K7|RBPSUHP4 recombining binding protein suppressor of hairless (drosophila) pseudogene 4 pseudo 2792835 RBPJP5 RBPJ pseudogene 5 100288841 BX664615,NG_013296 pseudo 2974955 RBPJP6 RBPJ pseudogene 6 643198 BX088651,NG_013297 pseudo 2797096 RBPJP7 RBPJ pseudogene 7 100133122 BX005266,NG_013298 pseudo 1342648 RBPMS RNA binding protein with multiple splicing This gene encodes a member of the RRM family of RNA-binding proteins. The RRM domain is between 80-100 amino acids in length and family members contain one to four copies of the domain. The RRM domain consists of two short stretches of conserved sequence called RNP1 and RNP2, as well as a few highly conserved hydrophobic residues. The protein encoded by this gene has a single, putative RRM domain in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 8855282,16189514,16713569,15489334,15146197,14759258,14702039,12477932,17099224,20379614 11030 NM_001008711,NM_006867,NM_001008710,NM_001008712,AC011204,AC102945,AC109329,CH471080,AK024192,AK098281,AK304858,AK310533,BC003608,BC063494,BC092476,BE733116,BG480355,CD518168,CN360712,CR604775,CR613046,D84107,D84108,D84109,D84110,D84111,N88549,AK057533 NP_001008711,NP_006858,NP_001008710,NP_001008712,EAW63451,EAW63453,EAW63454,EAW63460,EAW63462,BAG65596,AAH03608,AAH92476,BAA12225,BAA12226,BAA12227,BAA12228,BAA12229,Q569H2,Q93062 Hs.334587 FLJ32971|HERMES RBP-MS|RNA-binding protein with multiple splicing|heart and RRM expressed sequence protein-coding 1351025 RBPMS2 RNA binding protein with multiple splicing 2 14702039,12477932 348093 NM_194272,AC091582,AC100830,CH471082,AK124123,AK127873,AY369207,BC131612,BC148208 NP_919248,EAW77693,BAC87172,AAQ73311,AAI31613,Q6ZRY4,AAI72373 Hs.436518 RNA-binding protein with multiple splicing 2 protein-coding 1349749 RBPMSLP RNA binding protein with multiple splicing-like pseudogene 54032 1345408 RBPSUHP2 recombining binding protein suppressor of hairless (Drosophila) pseudogene 2 8406481,9290259,7873751,8406481,9290259 3518,3517 CR788267,NG_001151 IGKJRBP2|RBPSUHP2 pseudo 1343007 RBS Roberts syndrome 5951 1318229 RBX1 ring-box 1 This gene encodes an evolutionarily conserved protein that interacts with cullins. The protein plays a unique role in the ubiquitination reaction by heterodimerizing with cullin-1 to catalyze ubiquitin polymerization. It also may be involved in the regulation of protein turn-over. [provided by RefSeq] 1559296,1559277 15983046,16009132,16123592,16142236,16325183,16357137,16473935,16547496,16759355,16344560,19250909,14564014,15781449,19509229,18826954,18805092,18723677,18332868,17353931,17217622,17028207,16678110,16503656,15601839,15601820,15489334,15461802,14960280,14739464,14702039,12732143,12609982,12504026,12481031,12477932,12149480,12140560,11961546,11956208,11717410,11675391,11384984,11359933,11337588,11311237,11027288,10713156,10643962,10591208,10579999,10531037,10230407,10230406,10213692,10213691,18279656,18593899,18429817,12628165,15448697,15103331,17046835,17098746,17183367,17429597,17543862,18794347,19723642,20452971,15118074,15452136,15965468,16410731,20086098 1559296,1559277 9978 DA353856,DN602016,NM_014248,AL080242,CH471095,AF085906,AF140598,AF142059,AK090764,AK315722,AY099360,BC001466,BC017370,CR456560,GM863522 NP_055063,CAB62925,EAW60402,EAW60403,AAD29715,AAD30146,BAG38078,AAM21718,AAH01466,AAH17370,CAG30446,P62877,CAK54591,CAK54890,CAT16469 Hs.474949 BA554C12.1|FLJ60363|MGC13357|MGC1481|RNF75|ROC1 E3 ubiquitin-protein ligase RBX1|RING box protein 1|RING finger protein 75|RING-box protein 1|ZYP protein|regulator of cullins 1 protein-coding 1604740 RC3H1 ring finger and CCCH-type zinc finger domains 1 RC3H1, or roquin, encodes a highly conserved member of the RING type ubiquitin ligase protein family (Vinuesa et al., 2005 [PubMed 15917799]). The roquin protein is distinguished by the presence of a CCCH zinc finger found in RNA-binding proteins, and localization to cytosolic RNA granules implicated in regulating mRNA translation and stability.[supplied by OMIM] 16710414,15917799,14702039,12477932 149041 NM_172071,AL121983,AL136170,CH471067,AB095945,AK093501,AK122948,AY726570,BC136784,BC144408,BX537597 NP_742068,CAH70709,CAH70710,CAI19417,CAI19419,EAW90972,BAC23121,BAC04186,BAG53813,AAI36785,AAI44409,Q5TC82 Hs.30258 KIAA2025|RNF198|ROQUIN|RP5-1198E17.5 OTTHUMP00000035392|OTTHUMP00000035394|RING finger and C3H zinc finger protein 1|RING finger protein 198|ring finger and CCCH-type zinc finger domains 1|roquin protein-coding 1312502 RC3H2 ring finger and CCCH-type zinc finger domains 2 10938276,15489334,14702039,12477932,9373149,8125298,19549727 54542 NM_001100588,NM_018835,AC007066,AL359512,CH471090,AF255303,AF255304,AK000308,AK000720,AK027042,AK226010,AL833177,AL834431,AW291376,BC011688,BC044642,BU783286 NP_001094058,NP_061323,CAI94962,CAI94963,CAI94964,CAI94965,EAW87547,EAW87548,EAW87549,EAW87550,EAW87551,AAG00432,AAG00433,BAA91073,BAA91340,BAB15634,CAI46182,CAD39091,AAH11688,AAH44642,Q4VXB0,Q4VXB3,Q9HBD1 Hs.533499 FLJ20301|FLJ20713|MGC52176|MNAB|RNF164 OTTHUMP00000022076|OTTHUMP00000022077|RING finger and CCCH-type zinc finger domain-containing protein 2|RING finger protein 164|membrane associated DNA binding protein|membrane-associated nucleic acid binding protein|membrane-associated nucleic acid-binding protein|ring finger and CCCH-type zinc finger domains 2 protein-coding 1344319 RCA1 renal carcinoma, familial, associated 1 7690964 735348 RCAN1 regulator of calcineurin 1 The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq] 734902,1580889,1581652,1580863 15935327,8595418,19619541,19458618,19331211,19306109,19270310,19074885,18575781,18485898,18321953,18294449,18180251,17610901,17596961,17565986,17331188,17062574,16919501,16627481,16442855,16406492,16231093,16126726,17910944,17693409,16109302,15489334,15448146,15358155,15263820,15256217,15016650,14702039,12809556,12477932,12225619,12063245,11483593,10861295,10830953,10722714,9325060,9110174,8619474,18056702,15264020,19509306,19716405,19755121,19819266,19926569,20008143,20298200,20379614,16344560,17207965 734902,1580889,1581652 1827 NM_203417,NM_203418,NG_007071,AP000326,AP000327,CH471079,U53821,AF303449,AF400429,AK055845,AK092184,AK131569,AK293293,AK299444,AY325903,BC002864,BT007363,BX419260,CR456878,CR542065,CR590235,CR617324,U28833,U85265,U85266,U85267,NM_004414,DA503835 NP_004405,NP_981962,NP_981963,EAX09777,EAX09778,EAX09779,EAX09780,EAX09781,EAX09782,AAF21218,AAG40774,AAK92478,BAG52494,BAD18702,BAH11486,BAH13035,AAP96743,AAH02864,AAP36027,CAG33159,CAG46862,AAB81557,AAB84370,AAB84371,AAB84372,P53805,Q6FGP2,Q6ZMM3,Q9H2A1,ADQ32824 Hs.282326 ADAPT78|CSP1|DSC1|DSCR1|MCIP1|RCN1 Down syndrome candidate region 1|Down syndrome critical region gene 1|OTTHUMP00000108621|OTTHUMP00000108622|OTTHUMP00000214669|OTTHUMP00000214670|calcipressin-1|calcium and oxidant-inducible mRNA|down syndrome critical region homolog 1 (human)|down syndrome critical region protein 1|modulatory calcineurin-interacting protein 1|myocyte-enriched calcineurin-interacting protein 1|near DSCR proline-rich protein protein-coding 69211 RCAN2 regulator of calcineurin 2 1580863 18840614,17610901,17114339,16344560,14702039,12477932,12102656,10861295,10756093,10722714,8889548,8662924,19819266,20379614 10231 NM_005822,AL359633,AL390741,CH471081,AK090990,AK312392,AY034085,AY034086,BC038509,BM728501,CR604948,D83407,DA207634 NP_005813,CAI16754,CAH73259,CAH73260,EAX04294,BAG52258,BAG35309,AAK59805,AAK59806,AAH38509,BAA11911,Q14206,Q86YJ0,ABM82584,ABM85771 Hs.440168 CSP2|DSCR1L1|MCIP2|RCN2|ZAKI-4|ZAKI4|hRCN2 Calcipressin 2 (Thyroid hormone-responsive protein ZAKI-4) (Down syndrome candidate region 1-like 1) (Myocyte-enriched calcineurin interacting protein 2) (MCIP2)|Down syndrome candidate region 1-like 1|Down syndrome critical region gene 1-like 1|OTTHUMP00000016545|OTTHUMP00000016546|calcipressin-2|down syndrome critical region gene 1-like 1|myocyte-enriched calcineurin-interacting protein 2|thyroid hormone-responsive (skin fibroblasts)|thyroid hormone-responsive protein ZAKI-4 protein-coding 1323485 RCAN3 RCAN family member 3 1580863 19819266,10756093,16516408,19074885,18022329,17270291,17081983,16710414,15489334,12477932 11123 HQ287726,GQ411200,HQ317422,HQ317427,NM_013441,AL034582,CH471134,AF176116,AF176117,AY906854,BC035854,BX105019,EF431960,EF467309,EF529733,HQ317421,HQ317423,HQ317426 ADO15700,ACV31394,ADR51178,ADR51183,NP_038469,CAI21915,CAI21916,EAW95132,EAW95133,EAW95134,AAF01684,AAF01685,AAW83514,AAH35854,ABO27184,ABO46010,ABP88933,Q5ECL3,Q5TGC7,Q9UKA8,ABM83360,ABM86571,ADR51177,ADR51179,ADR51182 Hs.656799 DSCR1L2|MCIP3|RCN3|hRCN3 Down syndrome candidate region 1-like 2|Down syndrome critical region gene 1-like 2|calcipressin-3|down syndrome candidate region 1-like protein 2|down syndrome critical region gene 1-like 2|myocyte-enriched calcineurin-interacting protein 3|regulator of calcineurin 3 isoform 1,3,4,5|regulator of calcineurin 3 isoform 1a,2,3,4|regulator of calcineurin 3 isoform 1a,2,3,4,5|regulator of calcineurin 3 isoform 1a,3,4,5|regulator of calcineurin 3 isoform 1b,2,3,4,5|regulator of calcineurin 3 isoform 1c,2,3,4,5|regulator of calcineurin 3 isoform 1c,3,4,5 protein-coding 1318252 RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. 1580863 20085599,11256614,16381901,15489336,15057823,14985364,14702039,14565662,12477932,11306461,11230166,11076863 55213 NM_018191,AL139321,CH471075,AF334406,AI079751,AJ319660,AK001578,AK090807,AK096654,AL833821,BC038104,AB209222 NP_060661,CAH71047,EAX08829,AAK38372,CAC40027,BAA91768,BAG52232,BAC04833,CAD38683,AAH38104,Q59G87,Q8NDN9,Q9NVI3,BAD92459,CAL37574 Hs.508021 CLLD7|CLLL7|GLP|MGC33184|RP11-185C18.1 CLL deletion region gene 7 protein|GDP/GTP exchange factor (GEF)-like protein|OTTHUMP00000018413|RCC1 and BTB domain-containing protein 1|chronic lymphocytic leukemia deletion region gene 7 protein|regulator of chromosome condensation and BTB domain-containing protein 1 protein-coding 1351172 RCBTB2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 This gene encodes a member of the RCC1-related GEF family. The N-terminal half of the encoded amino acid sequence shows similarity to the regulator of chromosome condensation RCC1, which acts as a guanine nucleotide exchange factor (GEF) protein for the Ras-related GTPase Ran. [provided by RefSeq] 1302754,1580863 20379614,9806834,16189514,15489334,15057823,14702039,12477932,12115502,10089422 1302754 1102 HI574080,NM_001268,AL157813,AY341245,CH471075,AB209543,AF060219,AK023010,AK122778,AK298438,AK301516,AK304598,AK310081,AK315703,BC029052,BC031965,BG772479 CBX47529,NP_001259,CAH70795,AAP88928,EAX08799,EAX08800,BAD92780,AAC79987,BAG51149,BAG53723,BAG60659,BAG63022,BAG65384,BAG38065,AAH29052,O95199,Q59FB7,ABM81744,ABM87806 Hs.652712 CHC1L CHC1-L|RCC1 and BTB domain-containing protein 2|RCC1-like G exchanging factor RLG|chromosome condensation 1-like|regulator of chromosome condensation and BTB domain containing protein 2|regulator of chromosome condensation and BTB domain-containing protein 2 protein-coding 1343250 RCC1 regulator of chromosome condensation 1 1580863 1944575,2677018,11375490,3678831,15014043,19060893,18762580,18712773,18568422,18442486,18439570,17855385,17435751,17251553,17081983,16964243,16052169,15635413,15489334,15302935,14565978,12477932,12194828,12062430,11932251,11336674,11310559,10875935,10811825,10744690,10369786,10089422,9510255,7983178,7851910,7616957,2236072,1961752,1769659,10811801,7891706,9637251,16407974,18029348,8896453,20668449,16820410,17158748,18617507,20347844,7882974,7988569 1104 BF590413,BF667678,BM546148,BQ436549,BU501614,BU622451,BX109495,CB985055,NM_001048199,NR_030725,NR_030726,BC069198,CR407693,CR607152,CV811053,S75708,X12654,NM_001048194,NM_001048195,NM_001269,AL513497,CH471059,D00591,AF498924,AI198971,BC001589,BC010067 NP_001041664,AAH69198,CAG28621,AAB32653,CAA31182,P18754,Q16269,Q5T081,Q6NT97,ABM84079,ABM87759,NP_001041659,NP_001041660,NP_001260,CAI22287,EAX07690,EAX07691,EAX07692,EAX07693,EAX07694,EAX07695,BAA00469,AAM21072,AAH10067 Hs.469723 CHC1|RCC1-I|SNHG3-RCC1 OTTHUMP00000003775|OTTHUMP00000211004|OTTHUMP00000211006|OTTHUMP00000211007|OTTHUMP00000211009|SNHG3-RCC1 readthrough transcript|cell cycle regulatory protein|chromosome condensation 1|chromosome condensation protein 1|guanine nucleotide-releasing protein|regulator of chromosome condensation protein-coding 1603393 RCC2 regulator of chromosome condensation 2 15489334,12919680,12477932,12429849,10819331,9914378,7559776,1939370,15249581,18849993,17081983,19738201 55920 NM_018715,NM_001136204,AC004824,CH471134,AB040903,AJ421269,AK026005,AL359612,BC004933,BC042141,BC053908,BC142946,BQ774471,CR594534,CR595887,CR617891,CR619013,DR000303 NP_061185,NP_001129676,EAW94838,EAW94839,BAA95994,CAD13148,CAB94882,AAH04933,AAH42141,AAH53908,AAI42947,Q9P258 Hs.380857 DKFZp762N0610|KIAA1470|TD-60 RCC1-like protein TD-60|protein RCC2|telophase disk protein of 60 kDa protein-coding 2802295 RCC2P1 regulator of chromosome condensation 2 pseudogene 1 650983 AADB02001305,ABBA01065735,ABBA01065736,AC011293 pseudo 3003933 RCC2P2 regulator of chromosome condensation 2 pseudogene 2 100421075 AC009233,NG_021918 pseudo 1605899 RCCD1 RCC1 domain containing 1 16572171,15489334,14702039,12477932 91433 NM_001017919,AC068831,CH471101,AA564459,AK092661,AL110104,AL110105,AL527085,BC008845,BC064606,BC094739,BC113826,BC140708,BC140709,BQ924078,BU850147,BX375216,CR591209,NM_033544,CR601366,CR604570,CR610231,CR614843,CR620421 NP_291022,NP_001017919,EAX02130,EAX02131,EAX02132,AAI13827,AAI40709,AAI40710,A6NED2 Hs.655895 MGC14386 RCC1 domain-containing protein 1 protein-coding 1346588 RCD1 retinal cone dystrophy 1 5953 1319506 RCE1 RCE1 homolog, prenyl protein peptidase (S. cerevisiae) This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq] 1580863 10085068,16361710,15489334,14625273,14504265,12818187,12477932,11038283,10373325 9986 NM_001032279,AP000485,CH471076,CQ834848,AF121951,AL713740,BC052622,BC093726,BC093728,Y13835,NM_005133 NP_005124,NP_001027450,EAW74565,EAW74566,EAW74567,CAH05639,AAD22632,AAH52622,AAH93726,AAH93728,CAB46278,Q0P5W4,Q9Y256 Hs.654972 FACE2|RCE1A|RCE1B CAAX prenyl protease 2|RCE1 homolog, prenyl protein protease|farnesylated protein-converting enzyme 2|farnesylated proteins-converting enzyme 2|prenyl protein-specific endoprotease 2|rce1 homolog, prenyl protein protease (s. cerevisiae) protein-coding 1353437 RCHY1 ring finger and CHY zinc finger domain containing 1 The protein encoded by this gene has ubiquitin-protein ligase activity. This protein binds with p53 and promotes the ubiquitin-mediated proteosomal degradation of p53. This gene is oncogenic because loss of p53 function contributes directly to malignant tumor development. Transcription of this gene is regulated by p53. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863,2316155 17207965,18029348,15781263,19445020,19282868,19043414,18006823,17950244,17721809,17568776,16934800,16914734,15547185,15280670,14702039,14701804,12654245,12477932,12200228,8889548,18263878,20598683,19549727,16713569,19483087,19551892,19895323,19945467,20008555,20452352 2316155 25898 NM_001009922,NM_015436,NM_001008925,AC096759,CH471057,AB209072,AF247041,AF255666,AF305424,AK091501,AK308754,AK308848,AK309555,AL050144,AY888047,BC015464,BC031057,BC047393,BI913695,CB241669,CR596363,CR598430,CR612839,GQ250944,GQ250945,GQ250946,GU937000 NP_001009922,NP_056251,NP_001008925,EAX05724,EAX05725,EAX05726,EAX05727,EAX05728,BAD92309,ADQ32462,Q96PM5,Q9UHS6,Q9Y3X7,AAL76101,AAK96896,AAL09356,BAG52375,CAB43290,AAX78233,AAH15464,AAH47393,Q2KN33,Q96BL1,ACT35531,ACT35532,ACT35533,ACT64476,ACT64477,ADD21555 Hs.48297 ARNIP|CHIMP|DKFZp586C1620|PIRH2|PRO1996|RNF199|ZNF363|hARNIP CH-rich interacting match with PLAG1|CH-rich-interacting match with PLAG1|E3 ubiquitin-protein ligase Pirh2|OTTHUMP00000218849|OTTHUMP00000218851|OTTHUMP00000218853|OTTHUMP00000218854|RING finger and CHY zinc finger domain-containing protein 1|RING finger protein 199|androgen receptor N-terminal-interacting protein|androgen-receptor N-terminal-interacting protein|hPirh2|p53-induced RING-H2 protein|zinc finger protein 363 protein-coding 1313278 RCL1 RNA terminal phosphate cyclase-like 1 1580863 10790377,16344560,15635413,15489334,15164053,14702039,12477932,11790298,11042152,9373149,9184239,8125298,3416880,19862010,20379614 10171 AL158147,AL353151,CH471071,AF067172,AF161456,AJ276894,AK022904,AK225872,BC001025,CR600925,CR612629,CR612665,NM_005772,CR613074,CR623784,CR625779,DB024289,DB448951,EF553527 ACE87161,ACE86480,NP_005763,CAH70317,CAH70318,CAH70319,CAH70320,CAH72285,CAH72286,EAW58776,EAW58777,AAD32456,AAF29016,CAB89811,BAB14300,AAH01025,ABQ66271,Q5VZU1,Q5VZU3,Q9Y2P8 Hs.194121 RNAC|RPCL1 2310040A02Rik|RNA 3'-terminal phosphate cyclase-like protein|RNA cyclase homolog protein-coding 1322672 RCN1 reticulocalbin 1, EF-hand calcium binding domain Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane. 1580863 8416973,18561328,16713569,16554811,15489334,15342556,14702039,12477932,9192846,8586628,18688696,19474196,19710015 5954 NM_002901,AL078612,CH471064,AK094360,AK126419,AK129791,AY423728,BC010120,BG109024,BP253627,CA449220,D42073 NP_002892,EAW68227,EAW68228,AAS00491,AAH10120,BAA07670,Q15293,Q5J7V8,ABM83854,ABM87176 Hs.97887 FLJ37041|FLJ55835|PIG20|RCAL|RCN proliferation-inducing gene 20|reticulocalbin-1 protein-coding 4889296 RCN1P1 reticulocalbin 1, EF-hand calcium binding domain pseudogene 1 442234 AL139274,NG_022315 pseudo 4889248 RCN1P2 reticulocalbin 1, EF-hand calcium binding domain pseudogene 2 728913 NG_006546,AL627107 pseudo 733014 RCN2 reticulocalbin 2, EF-hand calcium binding domain The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. [provided by RefSeq] 1580863 19927312,17207965,21044367,15489334,12477932,10748068,9533013,9261167,16169070,18435749,8034671,7624774,20562859 5955 NM_002902,AC051643,CH471136,X78670,AK313833,AL110102,BC004892,BT009790,CR595477,CR596223,CR596401,CR596465,CR597519,CR597585,CR599064,CR609330,CR610299,CR613141,CR613525,CR614496,CR615949,CR616801,CR617037,CR626289,DB452318,X78669 NP_002893,EAW99216,BAG36566,AAH04892,AAP88792,ADQ32695,CAA55343,Q14257 Hs.79088 E6BP|ERC-55|ERC55|TCBP49 E6-binding protein|calcium-binding protein ERC-55|reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)|reticulocalbin-2 protein-coding 1346169 RCN3 reticulocalbin 3, EF-hand calcium binding domain 1580863 16189514,16433634,15489334,12975309,12477932,10931946,20139978 57333 NM_020650,AC010619,AF183423,AY195859,AY358423,BC013436,CR593314,CR603643,CR609238,CR626627 NP_065701,AAG09692,AAO43054,AAQ88789,AAH13436,Q96D15 Hs.567550 RLP49 EF-hand calcium-binding protein RLP49|reticulocabin|reticulocalbin-3|reticulocalbin-like protein-coding 1313957 RCOR1 REST corepressor 1 The RCOR gene encodes a functional corepressor required for regulation of neural-specific gene expression.[supplied by OMIM] 1580863 8619474,19242095,17537733,19394292,19522008,19703393,20080105,20106915,18945770,12192000,18854179,18806873,18657505,18075316,17081983,16885027,16565220,16140033,16079794,15897453,15489334,15325272,12493763,12477932,12399542,12032298,11516394,11171972,11102443,11076863,10734093,10449787,9110174,7584044,20973059 23186 NM_015156,AL132801,AL136293,CH471061,AF070627,AF155595,AK026612,BC051003,BC064495,D31888 NP_055971,EAW81793,EAW81794,AAF01498,AAH51003,AAH64495,BAA06686,Q9UKL0,AAI11591 Hs.510521 COREST|KIAA0071|RCOR REST corepressor 1 protein-coding 1353932 RCOR2 REST corepressor 2 737633,1580863 15489334,12477932,16169070,8889548 737633 283248 NM_173587,AP003780,CH471076,BC010608,BC023587,BM678625 NP_775858,EAW74181,EAW74182,AAH10608,AAH23587,Q8IZ40 Hs.98788 REST corepressor 2 protein-coding 1350848 RCOR3 REST corepressor 3 737633,1580863 16189514,19060904,18029348,17081983,16710414,16344560,15489334,14702039,12477932,10718198,19773279 737633 55758 NM_001136224,NM_001136225,NM_018254,AL590101,AL611964,CH471100,AA831517,AB037764,AK001738,NM_001136223,AK057001,AK125810,AK131312,AK300942,AK302664,AK311644,BC031608,CR621031,DA478986,DC387352 NP_001129695,NP_001129696,NP_001129697,NP_060724,CAH72432,CAH72433,CAH73871,CAH73872,EAW93423,BAA92581,BAA91872,BAG54764,BAG62571,BAG63899,AAH31608,Q9P2K3 Hs.356399 FLJ10876|FLJ16298|RP11-318L16.1 REST corepressor 3 protein-coding 1603598 RCSD1 RCSD domain containing 1 19536175,19064610,17541395,15850461,12477932 92241 BC143428,BC101562,AL031733,AL356532,CH471067,AF545852,AK025425,AL137762,AL833211,AY530954,BC013186,BC072399,BC098426,BC101536,NM_052862,CR618640,DR006615 AAI43429,NP_443094,CAI21376,CAI21377,CAI21595,EAW90796,EAW90797,EAW90798,EAW90799,AAN52359,CAB70910,AAS99235,AAH13186,AAH72399,AAH98426,AAI01537,AAI01563,Q5TGW6,Q6JBY9 Hs.493867 CAPZIP|MGC126585|MGC126611|MGC21854|MK2S4|RP3-503M14.1 OTTHUMP00000033256|RCSD domain-containing protein 1|capZ-interacting protein|protein kinase substrate CapZIP|protein kinase substrate MK2S4 protein-coding 734065 RCVRN recoverin This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq] 1580863 8422501,7906682,7745609,1999465,1467959,1388144,1387789,1672047,18266817,17374419,16713569,15489334,12789533,12596918,12507501,12477932,9753452,8912538,8598320,8500558 5957 NM_002903,AC026591,CH471108,AB001838,AK314129,BC001720,BT009838,S43855,S45545,S62028 NP_002894,EAW90014,BAA19460,BAG36819,AAH01720,AAP88840,AAB23163,AAB23392,AAB26894,P35243,Q53XL0,ABM83748,ABM87067 Hs.80539 RCV1 cancer associated retinopathy antigen|cancer-associated retinopathy protein|recoverin protein-coding 1348795 RD Radin blood group 5958 1603852 RD3 retinal degeneration 3 17186464,15489334,12914764,12477932,18936139 343035 NM_183059,AC105275,CH471100,AK291210,AY191519,BC035651,BC065541,BX647803,NG_013042,NM_001164688 NP_898882,EAW93414,BAF83899,AAP12678,AAH65541,Q7Z3Z2,NP_001158160 Hs.632495 C1orf36|LCA12 protein RD3 protein-coding 1344973 RDBP RD RNA binding protein The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq] 1580863 2119325,14667819,18029348,12676794,19143814,19115949,18303858,17499042,17081983,16964243,16898873,16880520,15561718,15489334,15342491,15302935,14656967,14574404,12612062,12477932,11940650,11112772,10199401,10072631,9799600,9776767,9264031,8373374,3353717,2612324,16838299,16169070,17353931,17643375,19556007,19615732,19851445,20097260 7936 NG_004658,NG_000013,NG_005163,AF019413,AL049547,AL645922,AL662849,AL844853,BX005143,CH471081,NM_002904,CR753845,CR759782,M32274,M32275,M32276,M33230,M33231,U37117,AK300717,AK300898,AK302652,AK303152,BC025235,BC050617,BU935034,CD579634,CR592086,CR592359,CR599173,CR606109,CR608765,CR609166,CR620889,CR625999,CR626781,L03411,X16105,CR388219 NP_002895,AAB67979,CAB89308,CAQ09275,CAI17457,CAI41861,CAM25865,EAX03551,EAX03552,EAX03553,CAQ07466,CAQ07468,CAQ10906,CAQ10907,CAQ10908,CAQ10909,CAQ10910,CAQ07114,AAA36308,AAK29466,BAG62393,BAH13370,BAG63891,BAG64255,AAH25235,AAH50617,AAC37523,CAA34231,P18615,Q9BQJ6,ABM87846 Hs.423935 D6S45|NELF-E|RD|RDP OTTHUMP00000174687|OTTHUMP00000174689|OTTHUMP00000174710|RD RNA-binding protein|RNA-binding protein RD|major histocompatibility complex gene RD|negative elongation factor E|negative elongation factor polypeptide E|nuclear protein protein-coding 1351497 RDH10 retinol dehydrogenase 10 (all-trans) RDH10 generates all-trans retinal from all-trans retinol and may plan an important role in the photic visual cycle. All-trans retinal is isomerized to 11-cis retinal by the retinal G protein-coupled receptor (RGR; MIM 600342) when the retinal pigment epithelium (RPE) is illuminated.[supplied by OMIM] 1302393,1580863 12975309,12477932,12407145,19102727,19027726,18502750,17218779,14596915,19458327,19473719 1302393 157506 HH961816,HI574066,NM_172037,AC111149,CH471068,AF456765,AY358270,BC067131 CBX47522,CBX51381,NP_742034,EAW87001,EAW87002,AAN64747,AAQ88637,AAH67131,Q8IZV5 Hs.244940 SDR16C4 retinol dehydrogenase 10|short chain dehydrogenase/reductase family 16C, member 4 protein-coding 1323753 RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) RHD11, a member of the short-chain dehydrogenase/reductase (SDR) superfamily of oxidoreductases, is expressed at high levels in prostate epithelium, and its expression is regulated by androgens.[supplied by OMIM] 1580863 19027726,17286855,17249616,16303743,15489334,14702039,14674758,12532453,12477932,12226107,12036956,11245473,10810093,8018917,17207965,15583024,18295589 51109 AK074749,AK289427,AK293355,AK307500,AK314465,BC000112,BC011727,BC026274,BC037302,BC051291,CR457180,CR590973,CR602441,CR611069,CR613307,CR614910,CR616199,CR623193,CR626485,DC355364,DQ426886,CR608390,NM_016026,AL049779,CH471061,CQ783647,AB209223,AF151840,AF167438,AF395068,AK057195 BAG51997,BAF82116,BAG56871,BAG37073,AAH00112,AAH11727,AAH26274,AAH37302,AAH51291,CAG33461,ABD90542,Q0QD40,Q59G86,Q8TC12,NP_057110,EAW80948,EAW80949,EAW80950,CAF86792,BAD92460,AAD34077,AAF89632,AAK72049,BAG51881,ADQ31650 Hs.719925 ARSDR1|CGI-82|CGI82|FLJ32633|HCBP12|MDT1|PSDR1|RALR1|SCALD|SDR7C1 HCV core-binding protein HCBP12|androgen-regulated short-chain dehydrogenase/reductase 1|prostate short-chain dehydrogenase reductase 1|prostate short-chain dehydrogenase/reductase 1|retinal reductase 1|retinol dehydrogenase 11|retinol dehydrogenase 11 (all-trans and 9-cis)|short chain dehydrogenase/reductase family 7C, member 1 protein-coding 1321376 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq] 1599415 20591486,12226107,19027726,19011012,18779497,17512964,17512723,17389517,17197551,15865448,15489334,15322982,15258582,14702039,12477932,9799089,19686838,19753312,20006610,17207965,20801516,20736127 1599415 145226 NM_152443,NG_008321,AL049779,CH471061,AK054835,AK315462,BC025724 NP_689656,EAW80951,BAB70811,BAG37849,AAH25724,Q96NR8,ADQ33178 Hs.415322 FLJ30273|LCA13|LCA3|SDR7C2 all-trans and 9-cis retinol dehydrogenase|retinol dehydrogenase 12|retinol dehydrogenase 12 (all-trans and 9-cis)|retinol dehydrogenase 12, all-trans and 9-cis|short chain dehydrogenase/reductase family 7C, member 2 protein-coding 1312701 RDH13 retinol dehydrogenase 13 (all-trans/9-cis) This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 19027726,18039331,16344560,16303743,15489334,14702039,12975309,12477932,12226107,20877624 112724 NM_138412,NM_001145971,NR_027381,NR_027382,AC011476,CH471135,AK075392,AK096798,AK122764,AK291579,AK310288,AK315539,AL833150,AY358473,BC009881,BC069002,DB218166,DB273341,DN996530 NP_612421,NP_001139443,EAW72321,EAW72322,BAC11591,BAG53715,BAF84268,BAG37918,AAQ88837,AAH09881,Q8NBN7,EAW72323 Hs.327631 DKFZp313H0740|FLJ39479|SDR7C3 retinol dehydrogenase 13|retinol dehydrogenase 13 (all-trans and 9-cis)|short chain dehydrogenase/reductase family 7C, member 3 protein-coding 1320191 RDH14 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) 1580863 11256614,19027726,16381901,15489336,15489334,14702039,12975309,12766061,12477932,12435598,12226107,11076863,17362836,20877624 57665 AC079148,CH471053,AF237952,AK023625,AK314994,AY358511,BC009830,BI546337,CD676669,CR597110,CR598421,NM_020905,CR598793,CR612704,CR619475 NP_065956,AAX93259,EAX00855,EAX00856,EAX00857,EAX00858,AAG12190,BAG37490,AAQ88875,AAH09830,Q53RX3,Q9HBH5,CAL38103 Hs.726345 PAN2|SDR7C4 alcohol dehydrogenase PAN2|pancreas protein 2|retinol dehydrogenase 14|retinol dehydrogenase 14 (all-trans and 9-cis)|short chain dehydrogenase/reductase family 7C, member 4 protein-coding 1604846 RDH16 retinol dehydrogenase 16 (all-trans) 9677409,19027726,12534290,11967490,11294878,10329026 8608 NM_003708,AC026120,CH471054,AB209332,AF057034,AF086735,AW449664,DQ499468 Q59FX7,AAI60081,NP_003699,EAW96968,BAD92569,AAC39922,AAC72923,ABF51671,O75452,Q1HDS8 Hs.134958 RODH-4|SDR9C8 microsomal NAD+-dependent retinol dehydrogenase 4|retinol dehydrogenase 16|retinol dehydrogenase 16 (all-trans and 13-cis)|short chain dehydrogenase/reductase family 9C, member 8|sterol/retinol dehydrogenase protein-coding 1318857 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. [provided by RefSeq] 1580863,1599416 20801516,9115228,10369264,19027726,18363170,16637847,15489334,15342556,15302662,15007239,14702039,12967826,12906118,12860821,12788147,12536149,12477932,12226107,11812441,11470705,11274198,11078852,11053295,10617778,9931293,8889548,8884265,7836368,12732844,15790919,17286855,17476461,18949499,20618457,20801113,20829743,11675386,20382160,17207965 1599416 5959 NM_002905,NG_008606,AC009779,AF037062,CH471054,AK293313,AK307157,BC028298,BP381700,BU617433,BU731044,U43559,U89717,BI765016,DQ426887,NM_001199771 NP_002896,AAC09250,EAW96825,EAW96826,BAG56833,AAH28298,AAC50725,AAB93668,O00179,Q92781,NP_001186700,ADQ31868 Hs.600940 FLJ39337|FLJ97089|HSD17B9|RDH1|SDR9C5 11-cis RDH|11-cis retinol dehydrogenase|9-cis-retinol specific dehydrogenase|retinol dehydrogenase 1|retinol dehydrogenase 5 (11-cis and 9-cis)|short chain dehydrogenase/reductase family 9C, member 5 protein-coding 1319361 RDH8 retinol dehydrogenase 8 (all-trans) All-trans-retinol dehydrogenase (RDH8) is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol in the presence of NADPH (Rattner et al., 2000 [PubMed 10753906]). It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of photoreceptors; hence it is also known as photoreceptor retinol dehydrogenase. It is important in the visual cycle by beginning the rhodopsin regeneration pathway by reducing all-trans-retinal, the product of bleached and hydrolysed rhodopsin (Rando, 2001 [PubMed 11710234]). This is a rate-limiting step in the visual cycle (Saari et al., 1998 [PubMed 9667000]).[supplied by OMIM] 1580863 10753906,19027726,15755727,15322982,15028754,14702039,12226107,11710234,9667000,21043051 50700 NM_015725,AC008742,CH471106,AF229845,AK024022 NP_056540,EAW84062,AAF63160,BAB14782,Q9NYR8,AAI40329,AAI46480 Hs.675522 PRRDH|SDR28C2 photoreceptor outer segment all-trans retinol dehydrogenase|retinol dehydrogenase 8|short chain dehydrogenase/reductase family 28C, member 2 protein-coding 1321329 RDM1 RAD52 motif 1 This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq] 1580863 17905820,15611051,12750383,12477932,18029348 201299 NM_001034836,NM_001163120,NM_001163121,NM_001163122,NM_001163124,NM_001163125,NM_001163130,NR_027996,NR_027997,NR_027998,NR_027999,NR_028000,AC004675,AC015849,CH471147,AA761980,AB080728,AK302782,AW138754,BC032114,BC038301,BC127190,BM559857,BU599050,BX376188,CR618249,EF488473,NM_145654,EF488480,EF488481,EF488482,EF488474,EF488475,EF488476,EF488477,EF488478,EF488479 NP_663629,NP_001030008,NP_001156592,NP_001156593,NP_001156594,NP_001156596,NP_001156597,NP_001156602,EAW80116,EAW80117,EAW80118,BAC02562,BAG63986,AAI27191,ABS86956,ABS86957,ABS86958,ABS86959,Q8NG50,ABW03899,ABS86950,ABS86951,ABS86952,ABS86953,ABS86954,ABS86955 Hs.194411 MGC33977|RAD52B RAD52 homolog B|RAD52 motif-containing protein 1 protein-coding 1348654 RDX radixin Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. [provided by RefSeq] 1580863 9456324,9430655,9348291,9287351,9184664,8889548,8858161,8486357,1429901,15818415,14499480,20679347,19255442,19215054,19152423,19129194,19124745,18941185,18295815,17825285,17725603,17515952,17237445,17226784,16889625,15489334,15313460,15252013,15178693,15149851,15096511,14568249,12734202,12522145,12499563,12477932,12385025,12360288,12226091,12070130,12068294,11375520,10816569,10806479,9681826,9501018,9472040,17321526,18029348,19615732,19754948,19830727,19890007,20855527 5962 EF445024,AP000901,AP002788,CH471065,AF086024,AK295075,AK312903,AK316061,BC002626,BC020751,BC029467,BC047109,BI600187,BX648536,CF124193,CF265114,DQ916738,NM_002906,DQ916739,DQ916740,DQ916741,DQ916742,L02320,NG_023044 ACA06066,NP_002897,EAW67129,EAW67130,EAW67131,BAH11963,BAG35749,BAH14432,AAH02626,AAH20751,AAH29467,AAH47109,ABI34710,ABI34711,ABI34712,ABI34713,ABI34714,AAA36541,P35241,Q05CU6,Q6PKD3,Q8NCS1,Q9NST9 Hs.263671,Hs.592679 DFNB24 radixin protein-coding 1351817 RDXP1 radixin pseudogene 1 5963 1344187 RDXP2 radixin pseudogene 2 8486357 5964 NG_000867,AC006210 pseudo 1319692 REC8 REC8 homolog (yeast) This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq] 1580863 10207075,18570052,16344560,15935783,15489334,15125634,14702039,12759374,12667442,12477932,19463812,20378615 9985 CR609880,DB294585,NM_001048205,NM_005132,AL136295,CH471078,AA496891,AF006264,AK001435,AK291191,AL832973,BC004159,BC010887,BC019326,CR457263,CR596261,CR597987 O95072,NP_001041670,NP_005123,EAW66089,EAW66090,EAW66091,AAD01193,BAA91690,BAF83880,CAH56339,AAH04159,AAH10887,AAH19326,CAG33544 Hs.419259 HR21spB|MGC950|REC8L1|Rec8p REC8-like 1|cohesin Rec8p|cohesion rec8p|human homolog of rad21, S. pombe|meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family|meiotic recombination protein REC8 homolog|meiotic recombination protein REC8-like 1|rec8-like 1 (yeast)|recombination and sister chromatid cohesion protein homolog protein-coding 1318851 RECK reversion-inducing-cysteine-rich protein with kazal motifs The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. [provided by RefSeq] 1580863 20579139,9789069,19208844,19197139,19022775,18652766,18425389,18319621,18194466,17714826,17628776,17583418,17443689,17329256,17328864,17262820,17233834,17033924,16951151,16791855,16377629,16103099,15328199,15164053,14702039,12810630,12738734,12477932,12438739,11747814,9789096,20407016,20973064,20395433,20127710,16463672,19827606,19995435,20032402,20143471,20154725,20379614,19913121,20628086 8434 NM_021111,AL138834,AL158830,CH471071,E13833,AK022897,AK292653,AK315073,BC032240,BC050306,BC060806,BC137093,BX648668,CR593801,D50406 NP_066934,CAH70155,CAD13384,EAW58318,EAW58319,BAF85342,BAG37543,AAH60806,AAI37094,BAA34060,O95980,Q6P9E2 Hs.388918 ST15|hRECK membrane-anchored glycoprotein (metastasis and invasion)|reversion-inducing cysteine-rich protein with Kazal motifs|suppression of tumorigenicity 15 (reversion-inducing-cysteine-rich protein with kazal motifs)|suppression of tumorigenicity 5 (reversion-inducing-cysteine-rich protein with kazal motifs)|suppressor of tumorigenicity 15 protein protein-coding 1322333 RECQL RecQ protein-like (DNA helicase Q1-like) The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. [provided by RefSeq] 1580863,2317369,2317365,2317370 11562355,19177149,19494003,19536092,19768149,20065033,20198302,7961977,15886194,19151156,19147782,18495662,7607686,7527136,11799066,18448429,18074021,17953710,17483412,17227144,16540687,16520463,16344560,16260474,15899892,15489334,15146197,15096578,12477932,12419808,12419324,9168958,8889549,8056767,20644561 2317369,2317365,2317370 5965 NM_002907,NM_032941,AC006559,CH471094,AK291627,AV718094,AY157499,BC001052,BE794392,BT007119,CA431135,CN414472,CX784110,D37984,DA028052,DA547846,L36140,T94514 NP_002898,NP_116559,EAW96434,EAW96435,EAW96436,EAW96437,EAW96438,BAF84316,AAO61939,AAH01052,AAP35783,BAA07200,AAA60261,P46063 Hs.235069 RECQL1|RecQ1 ATP-dependent DNA helicase Q1|DNA helicase Q1-like|DNA helicase, RecQ-like type 1|DNA-dependent ATPase Q1|recQ protein-like 1 protein-coding 1317096 RECQL4 RecQ protein-like 4 1580863,1599421 20451470,20222902,9878247,10319867,19299466,19242607,19237606,19177149,18716613,18693251,18647888,18616953,18504617,18449888,18270339,17184169,16949575,16678792,16617241,16214424,16141230,15964893,15960976,15489334,15221963,15146197,12952869,12838562,12734318,12673665,12601557,12477932,12016592,11032027,10779560,10552928,133085,16169070,15674334,15317757,19270065,19451148,19567405,19696745,19805216,20065033 1599421 9401 NM_004260,AB026546,AB026547,AC084125,CH471162,DQ176868,AB006532,BC011602,BC013277,BC020496,CN286060,CN286057,NG_016430 NP_004251,BAA86899,EAW82070,EAW82071,AAZ85145,BAA74453,AAH11602,AAH13277,O94761 Hs.31442 RECQ4 ATP-dependent DNA helicase Q4|DNA helicase, RecQ-like type 4|DNA helicase, RecQ-like, type 4 protein-coding 1321946 RECQL5 RecQ protein-like 5 1580863 19270065,19570979,20081208,20231364,20348101,20643585,18029348,10710432,9878247,18419580,18290761,18003859,17003056,16344560,16169070,15489334,15241474,12477932,18562274,10471747 9400 NM_001003716,NM_001003715,AC087749,AF135183,CH471099,AB006533,AB042823,AB042824,AB042825,AF193041,AK075084,AK304168,AL136869,BC000570,BC005103,BC016911,BC042989,BC063440,BI116483,CR533497,CR602281,CR615823,DB091647,NM_004259,EF560729 NP_004250,NP_001003716,NP_001003715,AAD43061,AAD43062,EAW89289,EAW89290,EAW89291,EAW89292,EAW89293,EAW89294,EAW89295,BAA74454,BAA95952,BAA95953,BAA95954,AAG22469,BAG52064,BAH14123,CAB66803,AAH00570,AAH05103,AAH16911,AAH63440,CAG38528,ABQ59039,O94762,Q6FIC9,Q6P4G0,Q8WYH5,Q9BSD6,Q9BW80 Hs.632229 FLJ90603|RECQ5 ATP-dependent DNA helicase Q5|DNA helicase, RecQ-like type 5|RecQ protein 5 protein-coding 1313134 REEP1 receptor accessory protein 1 737633 15550249,19072839,19034539,18644145,18321925,16826527,16720576,16271481,15815621,15489334,14702039,12477932,16344560,20718791,18364116,19161151,19781397,20200447,20379614,7829101 737633 65055 NM_022912,AC009309,AC009408,CH471053,AB073662,AK022775,AK023172,AK294300,AK297201,AK297287,AK297359,AK297373,AK299334,AL080222,AY562239,BC064846,CR457301,DB078037,BC139746,BI493883,DA495719,NG_013037,NM_001164730,NM_001164731,NM_001164732 NP_075063,AAX93132,EAW99457,EAW99458,BAB14444,BAH11727,BAH12523,BAH12538,BAH12561,BAH12565,BAH13005,AAT70684,AAH64846,CAG33582,Q9H902,AAI39747,NP_001158202,NP_001158203,NP_001158204 Hs.368884 C2orf23|FLJ13110|SPG31 OTTHUMP00000209558|chromosome 2 open reading frame 23|receptor expression-enhancing protein 1 protein-coding 1346917 REEP2 receptor accessory protein 2 16271481,15550249,15489334,14702039,12477932,11161817,9373149,9110174,8619474,8125298 51308 AY562240,NM_016606,AC113403,CH471062,AF070551,AF251041,AK056193,AK223611,AK290547,AK291101,AK293480,CR609366,BC006218,BC148256 NP_057690,EAW62137,EAW62138,EAW62139,EAW62140,AAF63767,BAG51643,BAD97331,BAF83236,BAF83790,BAG56971,AAT70685,AAH06218,Q9BRK0 Hs.416090 C5orf19|SGC32445 OTTHUMP00000224017|receptor expression enhancing protein 2|receptor expression-enhancing protein 2 protein-coding 1603350 REEP3 receptor accessory protein 3 16271481,15550249,15489334,15164054,12477932,18940312,17290275,17207965,16385451,20379614 221035 NM_001001330,AC022022,AC022387,AL607062,CH471083,CS320135,AK289976,AY562241,BC010040,BC018658,BC038724,BC057832,BC068557,CR936686 NP_001001330,CAI40732,EAW54246,CAK96042,BAF82665,AAT70686,AAH10040,AAH18658,AAH57832,AAH68557,Q6NUK4,Q8WV73,ADQ32008 Hs.727693 C10orf74|MGC87479 OTTHUMP00000019681|receptor expression enhancing protein 3|receptor expression-enhancing protein 3 protein-coding 1315250 REEP4 receptor accessory protein 4 737633 17081983,16271481,15550249,15498874,15489334,14702039,12477932 737633 80346 CR620416,CR621198,CR621818,CR625001,CR625559,CR620257,NM_025232,AC105206,CH471080,AF218014,AK025899,AK025930,AK172846,AK302352,AY562242,BC013048,BC050622,CR457353,CR591628,CR596798,CR598813,CR599739,CR602477,CR604085,CR604164,CR604636,CR609246,CR609300,CR609379,CR611281,CR614616,CR615507,CR615788,CR616050,CR616321,CR618269,CR620176 Q9H6H4,NP_079508,EAW63710,EAW63711,EAW63712,EAW63713,EAW63714,EAW63715,AAG17256,BAB15274,BAB15285,BAD18810,BAG63678,AAT70687,AAH13048,AAH50622,CAG33634 Hs.289063 C8orf20|FLJ22246|FLJ22277|PP432 receptor expression enhancing protein 4|receptor expression-enhancing protein 4 protein-coding 1314440 REEP5 receptor accessory protein 5 15489334,12477932,8647449,1678319,1659692,1651563,1651562,16762630,16344560,16271481,15550249,19913121,20628086,17207965,18839057 7905 NM_005669,AC008536,AC008575,CH471086,CQ859774,AK310729,AK312522,AY562243,BC000232,BC065926,BX648005,CR603989,CR610004,CR613261,CR615263,CR615731,DA807043,M74090,AK294496,AK295436,AK298268,AK299902 NP_005660,EAW48993,EAW48994,EAW48995,CAH25937,BAG35421,AAT70688,AAH00232,AAH65926,AAA66351,Q00765,ADQ32585,BAH11789,BAH12068,BAH12746,BAH13167 Hs.429608 C5orf18|D5S346|DP1|MGC70440|TB2|YOP1 OTTHUMP00000195052|OTTHUMP00000223351|deleted in polyposis 1|polyposis coli region hypothetical protein DP1|polyposis locus protein 1|receptor expression enhancing protein 5|receptor expression-enhancing protein 5 protein-coding 1319884 REEP6 receptor accessory protein 6 737633 16271481,16189514,15550249,14702039,12477932,17207965,15489334,19924442,19913121,20628086 737633 92840 NM_138393,AC027307,CH471139,AK058112,AK293919,AK315744,AY562244,BC008201 NP_612402,EAW69491,EAW69492,EAW69493,BAB71670,BAG57300,BAG38098,AAT70689,AAH08201,Q96HR9,ADQ33209 Hs.76277 C19orf32|DP1L1|FLJ25383|TB2L1 deleted in polyposis 1-like 1|polyposis locus protein 1-like 1|receptor expression enhancing protein 6|receptor expression-enhancing protein 6 protein-coding 737018 REG1A regenerating islet-derived 1 alpha This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq] 1580863 19329938,20056108,20065946,20379614,19032369,18781363,18630596,18452172,18289358,18259819,18024479,17990360,16341674,15952740,15778284,15765400,15628732,15489334,15340161,15211106,15166487,15022278,14508825,12477932,12369899,11796176,11396963,10662590,10625646,10526250,10348814,9823399,8961348,8889549,8654365,2332435,8020983,3908481,3665916,3541906,3345835,3108036,2963000,2764894,2525567,2493268,2394826,2226837,20099282,10526060,8348956,8333731,8110835,8070617,20835340 5967 NM_002909,AC017004,AC069387,CH471053,J05412,AF172331,AK291981,AK307292,AW873911,BC005350,BC110438,BC118621,BM769434,M18963,M27190,W38384,NG_023271 NP_002900,AAX88842,EAW99576,EAW99577,EAW99578,AAA36559,AAD51330,BAF84670,AAH05350,AAI10439,AAI18622,AAA36558,AAA60546,P05451,Q0VFX1,Q2TBE1,Q4ZG28 Hs.49407 ICRF|MGC12447|P19|PSP|PSPS|PSPS1|PTP|REG REG-1-alpha|islet cells regeneration factor|islet of langerhans regenerating protein|lithostathine 1 alpha|lithostathine-1-alpha|pancreatic stone protein, secretory|pancreatic thread protein|protein-X|regenerating islet-derived 1|regenerating islet-derived protein 1-alpha|regenerating protein I alpha protein-coding 1346386 REG1B regenerating islet-derived 1 beta This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq] 1580863 7607222,3665916,3541906,3108036,2764894,2525567,2493268,2394826,2332435,2226837,3908481,16169070,2963000,15489334,15342556,15340161,12477932,12369899,11796176,11396963,10625646,9814489,8961348,8654365,8549770,8348956,8333731,8110835,20056108 5968 NM_006507,AC017004,CH471053,D17291,L08010,M27189,AK308507,AK308515,AK312057,BC027895,BM310513,BP321590,CA867116,CR450322,D16816 NP_006498,AAX88841,EAW99579,BAA04124,AAA18204,AAA60545,BAG34993,AAH27895,CAG29318,BAA04091,P48304,Q6ICS1 Hs.4158,Hs.708865 PSPS2|REGH|REGI-BETA|REGL OTTHUMP00000202567|PSP-2|REG-1-beta|lithostathine 1 beta|lithostathine-1-beta|pancreatic stone protein 2|regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)|regenerating islet-derived protein 1-beta|regenerating protein I beta|secretory pancreatic stone protein 2 protein-coding 1602338 REG1P regenerating islet-derived 1 pseudogene 15556304,14702039,12477932,8549770,8333731 5969 NR_002714,AC069387,AK126561,BC118544,D56494,D56495 AAX93046,BAA09543,BAA09544 Hs.49407,Hs.584797,Hs.716255 REGL|RS pseudo 1604065 REG3A regenerating islet-derived 3 alpha This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. Multiple alternatively spliced transcript variants encoding the same protein have been described for this gene but the full length nature of some transcripts is not yet known. [provided by RefSeq] 19416921,20201926,20382864,1325291,8997243,19254208,19158046,19095652,19077460,19051257,17998566,16963458,16931762,16116631,15489334,12890698,12477932,11278730,9151782,8188210,8076648,7721106,7679928,1469087,10662590 5068 NM_138937,NM_138938,AC069387,CH471053,D30715,L15533,X79988,AK291973,AK311526,AY544128,AY544130,NM_002580,BC036776,D13510,M84337,S51768,X68641,AK311523,BQ777112,DC300833 NP_002571,NP_620354,NP_620355,AAX93047,EAW99570,EAW99571,EAW99572,BAA21104,AAA60020,BAF84662,AAT11159,AAT11161,AAH36776,BAA02728,AAA36415,AAB24642,CAA48605,Q06141,Q53S56,ABM81643,ABM84823 Hs.567312 FLJ18565|HIP|PAP|PAP-H|PAP1|PBCGF|REG-III|REG3 PAP homologous protein|REG-3-alpha|hepatocarcinoma-intestine-pancreas|human proislet peptide|pancreatic beta cell growth factor|pancreatitis-associated protein 1|proliferation-inducing protein 34|proliferation-inducing protein 42|reg III-alpha|regenerating islet-derived protein 3-alpha|regenerating islet-derived protein III-alpha protein-coding 1351031 REG3G regenerating islet-derived 3 gamma 18192873,17998566,15815621,15777617,15556304,15489334,15340161,12975309,12477932 130120 NM_001008387,NM_198448,AB161039,AC017004,CH471053,AB161037,AB161038,AI025191,AK292595,AY359047,AY428734,BC103852,BC103853,BC103854,BI792387,CR541938 NP_001008388,NP_940850,BAD51395,AAX88840,EAW99580,EAW99581,BAD51394,BAD51396,BAF85284,AAQ89406,AAR88147,AAI03853,AAI03854,AAI03855,CAG46736,Q3SYE6,Q6UW15 Hs.447084 MGC118998|MGC118999|MGC119001|PAP IB|PAP1B|PAPIB|REG-III|UNQ429 LPPM429|OTTHUMP00000202566|PAP IB protein|PAP-1B|REG-3-gamma|pancreatitis-associated protein 1B|pancreatitis-associated protein IB|reg III-gamma|regenerating gene III|regenerating islet-derived protein 3-gamma|regenerating islet-derived protein III-gamma protein-coding 1352664 REG4 regenerating islet-derived family, member 4 1580863 14550954,12819006,12477932,12455032,11311942,19329938,19546835,19716164,19740514,19789838,19834624,19900450,19924642,20183800,20417867,19143768,19136934,19082448,19076683,18754868,18580680,18505053,18187959,16918991,16710414,16401477,16323007,15788672,15489334,15340161,14702039,20349522,20126989,20692269 83998 NM_032044,NM_001159352,NM_001159353,AL359752,CH471122,CS288402,AF254415,AF345934,AK057107,AY007243,AY126670,AY126671,AY126672,BC017089,BF242936 NP_114433,NP_001152824,NP_001152825,CAI18971,CAI18972,CAI18973,EAW56711,EAW56712,EAW56713,EAW56714,CAK22302,AAK48435,AAK59869,AAG02562,AAM95598,AAM95599,AAM95600,AAH17089,Q5T3X5,Q9BYZ8,ABM82693,ABM85877 Hs.660883 GISP|REG-IV|RELP OTTHUMP00000014031|REG-4|REG-like protein|gastrointestinal secretory protein|reg IV|regenerating gene type IV|regenerating islet-derived protein 4|regenerating islet-derived protein IV protein-coding 1322580 REL v-rel reticuloendotheliosis viral oncogene homolog (avian) The REL gene encodes c-Rel, a transcription factor that is a member of the Rel/NFKB family, which also includes RELA (MIM 164014), RELB (604758), NFKB1 (MIM 164011), and NFKB2 (MIM 164012). These proteins are related through a highly conserved N-terminal region termed the 'Rel domain,' which is responsible for DNA binding, dimerization, nuclear localization, and binding to the NFKB inhibitor (MIM 164008) (Belguise and Sonenshein, 2007 [PubMed 18037997]).[supplied by OMIM] 1580863,2292172,2300264,2300268,2300275,2300270 10498867,15799966,8423996,12761501,19240061,19110719,18990758,18695674,18660489,18593911,18466468,18434448,18089804,18037997,18006812,17335903,17243160,17011549,16896156,15870177,15660915,15578091,15551733,15146197,15143182,15024091,14961076,14744759,14743216,14615382,8670842,9315679,19948376,20575024,20519647,14534540,8415639,8413269,8413211,8152812,8139561,7933095,7929355,7886940,7862168,3529946,3016517,2666912,2155506,1891714,1740106,1727488,1650444,1620118,1577270,1549370,1437141,1406630,12504005,11971907,12829026,12588973,12556500,12511414,12478664,12477932,11967310,11830502,11830490,11587641,11254713,10706725,10602468,10562553,10329626,9950430,9837938,9769479,9731206,9639522,9510190,9135156,9058790,8666258,8621542,8547649,19913121,20628086,16319921,19503088,19573080,19773279,19945995,20038977,20190752,20228198,20448286,20228799,20453842,21102463,20568250,20876593,20953190,20973039,21037568 2292172,2300264,2300268,2300275,2300270 5966 NM_002908,AC010733,CH471053,DQ314888,L41414,M11595,AA279919,AK303926,BC051005,BC117191,BC143885,BX111941,CN414487,X75042,HI573896 NP_002899,EAX00028,ABC40747,AAA52073,BAG64854,AAI17192,AAI43886,CAA52954,Q04864,Q17RU2,CBX47437 Hs.631886 C-Rel C-Rel proto-oncogene protein|oncogene REL, avian reticuloendotheliosis|proto-oncogene c-Rel|v-rel avian reticuloendotheliosis viral oncogene homolog protein-coding 1352761 RELA v-rel reticuloendotheliosis viral oncogene homolog A (avian) NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA, or RELB (MIM 604758) to form the NFKB complex. The p50 (NFKB1)/p65 (RELA) heterodimer is the most abundant form of NFKB. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008 or NFKBIB, MIM 604495), which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NFKB complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 2298759,2292172,2298787,2298767,2298780,2298781,2298789,2298892,2298753,2298768,2298771,2298775,2298776,2298862,2298752,2298860,2298762,2302394,2298773,2298777,2298843,2298852,2298761,2298763,2298764,2298765,2298769,2298849,2298755,2298756,2298757,2298778,2298842,2293094,2298840,2298779,2298853,2298859,2298754,2298774,2298841,2298891,2302392,2298856,2298858,2298857,1580863 10646849,10839990,11274168,11387332,11567019,11970949,12444202,12456660,12527755,12843241,14508515,14557267,14560022,1493333,15013781,15152190,15171256,15184881,15496460,15601829,15657065,15799966,16291753,16329838,16452207,16456540,16481475,16498455,16524505,16951195,16997282,17157788,17183367,17350185,17353187,1740106,17468759,17540171,17612295,17620405,17708800,17715045,17785205,17956668,17986144,18024283,18316612,18779315,19058135,19135889,19422389,19433587,19453840,19458474,19483084,19502777,19507243,19591173,19591457,19619938,19649704,19654331,19683540,19706600,19706715,19706766,19734210,19734226,19746155,19751727,19758175,19764566,19773279,19779021,19789307,19800042,19819989,19860880,19911008,19912635,19940030,19955102,19957349,20001970,20020487,20026048,20032510,20035271,20038977,20048074,20049872,20080798,20100341,20145242,20160011,20164172,20190799,20233629,20299548,20346360,20379146,20385564,20388791,20406971,20448286,20457835,7651415,8152812,8428580,8918464,9252186,9566883,9584180,9950430,16982623,16966488,16940169,16931600,16829531,16785565,16735506,16728495,16723503,16608838,16584809,16573520,16497732,16497702,16477006,16410078,16407283,16344560,16322332,16285952,16243805,16214042,16186799,16135789,16105840,16081638,16052512,16046471,16034126,15988014,15975999,15935276,15917220,15913553,15905616,15885892,15849198,15845545,15746428,15718492,15682491,15671037,15657351,15599399,15556937,15543947,15499023,15498932,15484295,15256061,15246972,15231833,15226358,15205244,15200413,15167972,15155458,15140884,15130920,15128824,15093710,15079071,15073170,15073167,15029197,15016307,14970236,14966904,14716817,14711835,14690596,14688382,14657027,14624448,14623898,14600158,14600157,14593105,14587029,14576841,12972607,12881425,12842894,12829026,12820969,12767057,12748188,12736262,12707271,12700228,12690099,12673201,12665595,12651903,12628924,12618762,12606947,12606945,12589049,12581153,12559944,12556500,12553906,12540841,19043589,19038492,19019440,18991026,18990707,18983609,18981184,18952281,18947494,18823280,18798274,18720533,18714023,18703796,18701591,18660489,18607537,18600306,18598236,18550535,18541671,18466468,18461473,18439422,18434448,18424438,18424071,18362169,18362147,18314621,18294642,18241676,18227347,18215660,18215193,18212740,18201972,18188593,18178962,18174252,18172215,18163503,18163488,18095109,18061975,18059344,18045535,18040287,18037904,18036607,18035048,18034190,18025803,18021261,17982102,17962362,17959673,17947640,17911169,17904523,17889859,17889033,17720813,17707233,17675239,17660862,17631635,17626072,17622249,17611696,17590503,17586618,17537731,17530443,17525529,17521736,17493236,17478731,17468103,17452529,17439942,17403902,17374495,17362989,17317104,17301240,17258784,17255956,17242904,17207971,17196614,17167080,17158457,17136479,17085785,17079333,17070014,17054067,17041012,17012367,17003035,16998237,12509469,12504098,12493764,12485413,12482669,12477932,12473373,12429528,12427593,12419817,12419806,12398897,12377934,12350227,12213807,12181450,12173051,12167619,12138131,12134007,12080470,12077347,12067985,12057007,12052823,12040437,12040027,12027803,12019209,11983170,11980335,11971907,11967310,11964305,11953203,11922866,11833470,11827962,11813986,11739381,11704662,11684013,11591705,11590148,11579140,11564889,11526476,11522182,11511100,11385624,11299302,11278855,11241736,11160671,11114727,11044099,10995388,10938077,10935546,10928981,10903762,10849440,10799874,10777610,10777532,10671503,10671224,10644726,10644332,10580107,10542237,10498867,10490645,10488148,10480634,10446807,10400814,10393859,10384093,10357819,10336463,10225209,10207088,10075655,9990853,9865693,9837938,9792375,9738011,9730685,9724652,9660950,9570146,9566873,9560267,9548485,9525916,9510190,9468519,9278385,9250404,9150141,9110146,9096323,8834464,8798655,8746784,8724035,8709193,8676466,8649779,8642313,8627654,8626413,8615004,8550813,8423996,8413211,8281153,8246997,8207793,8188306,8113688,7933095,7907305,7886940,7859743,7838536,7800480,7729429,7706261,7690421,7659084,7494249,2006423,2001591,1732726,1583734,1505523,17023015,17031851,8290595,11533489,11313474,9751059,8139561,9315679,12672800,8816457,14743216,11931769,10562553,12244126,8670842,9482849,12618429,12693954,14769797,15355351,10847592,12393603,20421348,20651843,20639196,16998474,17000776,20568250,20729202,21048031,20410276,20617556,19219072,19864627,20124457,20211864,20596645,20706634,20936779,20482821,20501702,20519647,20538607,12055073,9584164,15657437,12517770,8441377,3091258,9437432,10521409,7739562,15465828,15489227,10660609,10747850,8717528,15876188,12924514,12761501,15790681,15616591,3140380,10723127,12048232,19573080,19520742,19448676,19428110,19407977,19339690,19309400,19300393,19296848,19289499,19262565,19197368,19185596,19157506,19140318,19124804,19124506,19103749,19067848,19064995,19064727,19060926,19046417,15485901,16007092,15845455,15660126,12917431,15616592,14685242,15315758,15383283,15775976,15494311,15735750,15652748,15125834,19913121,20581863,20628086,20194077,20562110,20568106,20862798,20428758,20457620,20514026,20514451,20571344,20740673,20462637,20564628,15276183,16382138,16483679,16497877,16740634,18650421,20585448,20672329,21056029,20380454,20596086,20619728,20664977 2298759,2292172,2298787,2298767,2298780,2298781,2298789,2298892,2298753,2298768,2298771,2298775,2298776,2298862,2298752,2298860,2298762,2302394,2298773,2298777,2298843,2298852,2298761,2298763,2298764,2298765,2298769,2298849,2298755,2298756,2298757,2298778,2298842,2293094,2298840,2298779,2298853,2298859,2298754,2298774,2298841,2298891,2302392,2298856,2298858,2298857 5970 NM_021975,NM_001145138,AP001362,AY455868,CH471076,Z22948,Z22951,AK303262,AK308020,AK308478,BC011603,BC014095,BC033522,BC069248,BC110830,BU633061,CR590105,CR598825,CR605571,CR615054,DA020095,L19067,M62399 NP_068810,NP_001138610,AAR13863,EAW74424,EAW74425,EAW74426,CAA80524,BAG64344,AAH11603,AAH14095,AAH33522,AAI10831,AAA20946,AAA36408,Q04206,Q2TAM5,Q96CP1,Q96F54 Hs.502875 MGC131774|NFKB3|p65 nuclear factor NF-kappa-B p65 subunit|nuclear factor of kappa light polypeptide gene enhancer in B-cells 3|transcription factor p65|v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (p65))|v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 protein-coding 1353567 RELB v-rel reticuloendotheliosis viral oncogene homolog B 1580863,2292172 10384093,10225209,10207088,9792375,9730685,9566873,9525916,9510190,9278385,9110146,8834464,8724035,8709193,8676466,8627654,8615004,8441398,8207793,8183565,8113688,7859743,7838536,7800480,7729429,7690421,7494249,1583734,1531086,1505523,14678988,10393859,16982744,20568250,19219072,21062507,20460684,15799966,1577270,8188306,19433448,19373868,19351823,19131627,19020113,18688039,18660489,18466468,18434448,17900530,17823304,17446175,16960152,16951372,16902410,16551621,16261162,16107733,15596805,15489334,15315978,15265917,14743216,12874295,12820969,12505990,12485413,12482669,12477932,12473373,12427593,12365017,12167619,11833470,11827962,11704662,11687592,11579140,11522182,11511100,11385624,11299302,11241736,11160671,11044099,10799874,10671224,10644726,10644332,10580107,10540217,10480634,10446807,10400814,19913121,20628086,17183367,19573080,19655301,19690169,19773279,19903458,20353939,20448286,20564628,16344560,8889548,20844054 2292172 5971 NM_006509,AC011489,AF043463,CH471126,DQ314887,AK290594,AL583128,AW137991,BC028013,BI906507,CR607370,M83221,BM684710,DA940587 NP_006500,AAC82346,EAW57316,ABC40746,BAF83283,AAH28013,AAA36127,Q01201 Hs.654402 I-REL|IREL|REL-B OTTHUMP00000221313|transcription factor RelB|v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)|v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 protein-coding 1625842 RELL1 RELT-like 1 18029348,16389068,16344560,16303743,12477932,19969290,20379614 768211 NM_001085399,NM_001085400,AC027607,AC108022,CH471069,AI016583,AK025431,AK075468,BC039540,DA400382,DA491231 NP_001078868,NP_001078869,AAY41016,EAW92885,BAC11638,AAH39540,Q4W5D7,Q8IUW5 Hs.283378,Hs.708605 FLJ21778|MGC50583 OTTHUMP00000218144|RELT-like protein 1|receptor expressed in lymphoid tissues like 1|tmp_locus_29 protein-coding 1313209 RELL2 RELT-like 2 737633 16389068,16303743,15489334,14702039,12975309,12477932,19969290 737633 285613 NM_173828,NM_001130029,AC008781,CH471062,CQ783064,AK054889,AK075064,AY358163,BC009560,BC027919,BC063469,CR600554,CR615264 NP_776189,NP_001123501,EAW61911,EAW61912,EAW61913,EAW61914,CAF86269,BAC11380,AAQ88530,AAH63469,Q8NC24 Hs.120094 C5orf16|FLJ90583 RELT-like protein 2|chromosome 5 open reading frame 16|receptor expressed in lymphoid tissues like 2 protein-coding 735880 RELN reelin This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq] 1358567,1580863,1358346,1358468,2324615,2317777,2317957,2317783,729771,634730,2317926,2317958,2317973,1358410,2324681 15048647,15006702,14702039,14515139,12931209,12899622,12853948,12834112,12690205,12670700,12645087,12399956,12376533,12363388,12363196,12192627,12167620,12143388,12135781,12122039,12087179,12082559,11880184,11711858,11689558,11520926,11408330,11317216,11137154,20659411,19436241,19633980,19691043,19713529,19720620,19847460,19922905,19936619,19948739,19956836,20010491,20025970,20150511,20379614,20431428,20434133,20436377,20442744,20452100,20468075,19401682,19230858,19156168,19086053,19058789,19054571,19010793,18599960,18597938,18593473,18449964,18384059,18282107,17955477,17870056,17696989,17684500,17621165,17548821,17431900,17366345,17365098,17360894,17310238,16979599,16951405,16941662,16556465,16510495,16481437,16472607,16266828,15965968,15961543,15820235,15790807,15718228,15690491,15655250,15558079,15464360,15048648,10973257,10612399,10571241,10571240,10328932,9861036,9847074,9049633,7715726,20554015,20554749,20642811,20697953,20727978,20882487 1358567,1358346,1358468,2324615,2317777,2317957,2317783,729771,634730,2317926,2317958,2317973,1358410,2324681 5649 NM_173054,NM_005045,NG_011877,AC000121,AC002067,AC005064,AC005101,AC006316,AC006981,AC010126,AC073208,AC079918,AY101601,CH236947,CH471070,AK093843,AK293863,AK297459,AY927583,U79716 NP_774959,NP_005036,AAB46357,AAM49151,AAP22330,AAD29127,AAS02019,AAQ96860,AAP22355,AAM51648,EAL24410,EAL24411,EAW83336,EAW83337,EAW83338,BAG57256,BAG59882,AAC51105,P78509,Q75MM8,AAI72269 Hs.655654 PRO1598|RL OTTHUMP00000211830|reelin protein-coding 1313376 RELT RELT tumor necrosis factor receptor The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq] 1580863 16950202,16547002,16389068,15489334,15340161,14702039,12477932,11313261,16530727,19969290 84957 NM_152222,NM_032871,AP000562,AP000763,CH471076,AF319553,AK027899,AK057036,AK074128,AK310103,BC001812,BC017279,BC051810 NP_689408,NP_116260,EAW74892,EAW74893,EAW74894,EAW74895,EAW74896,EAW74897,EAW74898,AAK77356,BAB55441,BAG51848,BAB84954,AAH17279,AAH51810,Q969Z4,ABM83544,ABM86784 Hs.533720 FLJ14993|TNFRSF19L receptor expressed in lymphoid tissues|tumor necrosis factor receptor superfamily member 19L|tumor necrosis factor receptor superfamily, member 19-like protein-coding 1315248 REM1 RAS (RAD and GEM)-like GTP-binding 1 The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. 1580863 17686775,16648185,15489334,14623965,12477932,11780052,10831614,10441394 28954 NM_014012,AL121751,CH471077,AF084465,AF152863,AK313060,BC039813,BT020078,BT020079,CR598485,CR626669 NP_054731,CAB90274,EAW76439,EAW76440,EAW76441,EAW76442,AAC33132,AAF74212,BAG35890,AAH39813,AAV38881,AAV38882,O75628 Hs.247729 GD:REM|GES|MGC48669|REM GTP-binding protein REM 1|GTPase GES|GTPase-regulating endothelial cell sprouting|rad and Gem-like GTP-binding protein 1 protein-coding 733550 REM2 RAS (RAD and GEM)-like GTP binding 2 18056257,15728182,15489334,14702039,12477932,11181995,10727423,20231315 161253 NM_173527,AL135998,CH471078,AK096283,AK299238,BC035663 NP_775798,EAW66231,BAC04746,BAH12977,AAH35663,Q8IYK8 Hs.444911 FLJ38964 GTP-binding protein REM 2|Rad and Gem-related 2 (rat homolog)|rad and Gem-like GTP-binding protein 2|rad and gem related gtp binding protein 2 APPROVED protein-coding 736366 REN renin Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq] 1580671,1580697,1580698,1581742,2311695,1581739,1598878,1579795,1580863 12045255,16116425,7584914,18029348,19243623,19144755,19126660,19082699,19073901,19023100,18953568,18922597,18856058,18794727,18722896,18718746,18698213,18632798,18519826,18508487,18486430,18483152,18325076,18260994,18259612,18212269,18205094,18202178,18192836,18188989,18175911,18091737,18077515,17785633,17703434,17693975,17660193,17562974,17546276,17485830,17476284,17455195,17416596,17158202,16990260,16940215,16933186,16790508,16710414,16672053,16615274,16446393,16396763,16375820,16189286,16138564,16036389,15914769,15914614,21084044,17207965,20925572,15739123,15662219,15489334,15368359,15342556,15075192,15015130,14530292,12933794,12862204,12854169,12736712,12695419,12684512,12613527,12569263,12556231,12544508,12477932,12473863,12431445,12431442,12394950,12186695,11967817,11847188,11803527,11800056,11776100,11751703,11409653,11224002,11098137,11015597,9933256,9928950,8901832,8735181,8494607,8387539,8344672,6398949,6391881,6324167,6138751,6091130,6089171,3542996,3530608,3516796,3297510,3288503,3066525,3032746,2960682,2540188,2493678,2450565,2203348,2186807,2061332,2017226,2016271,1608447,1597471,11903315,16169070,20429690,19913121,20223792,20577119,20628086,20662730,20673868,20502328,19369955,19473121,19509012,19513539,19536175,19664745,19673942,19716087,19733264,19759335,19761684,19891555,20160196,20201926,20379614,20452482,20486282,20529973,20537141 1580671,1580697,1580698,1581742,2311695,1581739,1598878,1579795 5972 NG_012122,AL592114,AL592146,AY436324,CH471067,EU332871,L00064,L00073,M10152,M13253,M15410,NM_000537,M26440,M26901,AF117822,BC033474,BC047752,BP321283,CR536498,X00063 NP_000528,CAH71224,CAI16594,AAR03502,EAW91505,ABY87560,AAA60363,AAD03461,AAA60262,AAA60263,AAA60365,AAA60364,AAD26254,AAH33474,AAH47752,CAG38737,CAA24937,P00797,Q15296,Q9UQK5,ADQ33130 Hs.3210 FLJ10761|HNFJ2 angiotensin-forming enzyme|angiotensinogenase|renin|renin 1|renin precursor, renal protein-coding 732186 RENBP renin binding protein The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq] 1580863,1300048,1581740 20486282,9285790,18029348,16189514,15489334,12612874,12499362,12477932,12446192,12394950,11926999,11467860,11256614,11098137,9990133,9305888,8088804,7721097,6756682,3924907,1723410,1618798,19913121,20628086 1581740 5973 NG_012522,CH471172,D10711,U52112,AK298125,BC015558,CR601292,D10232,NM_002910 EAW72771,EAW72772,BAG60405,AAH15558,BAA01082,P51606,ABM83196,ABM86397,NP_002901 Hs.158331 RBP|RNBP AGE|GlcNAc 2-epimerase|N-acetyl-D-glucosamine 2-epimerase|N-acylglucosamine 2-epimerase|renin-binding protein protein-coding 1344723 RENS1 Renpenning syndrome 1 7211958 5974 1353425 RENS2 Renpenning syndrome 2 (Renpenning-like syndrome) 5975 2306721 REP15 RAB15 effector protein REP15 is a binding partner of the RAB GTPase family member RAB15 that facilitates transferrin receptor (TFRC; MIM 190010) recycling from the endocytic recycling compartment (Strick and Elferink, 2005 [PubMed 16195351]).[supplied by OMIM] 16195351,12477932 387849 NM_001029874,AC009509,AY662682,BC140921 NP_001025045,AAT76304,AAI40922,Q6BDI9 Hs.269836 RAB15EP rab15 effector protein protein-coding 1347617 REPIN1 replication initiator 1 737633 10606657,16924111,16344560,15489334,15146197,12853948,12477932,11328883,9373149,8355269,8125298,2247056,2174103,20727851 737633 29803 NM_013400,NM_001099695,NM_001099696,NM_014374,AACC02000108,AC005586,CH471173,AF201303,AJ245553,AK025356,AK225227,AK226081,AK292670,AL046625,BC000363,BC001760,CA449524,CN386958,CR597187,CX166683,CX756128,DB161182 NP_037532,NP_001093165,NP_001093166,NP_055189,EAL24474,EAL24475,AAS00385,AAS00386,EAW54114,EAW54117,EAW54118,EAW54119,AAF26712,CAB53100,BAF85359,AAH00363,AAH01760,Q9BWE0,ABZ92325 Hs.647086,Hs.655734 AP4|RIP60|ZNF464|Zfp464 60 kDa origin-specific DNA-binding protein|60 kDa replication initiation region protein|ATT-binding protein|DHFR oribeta-binding protein RIP60|H_DJ0584D14.12|OTTHUMP00000212806|OTTHUMP00000212807|OTTHUMP00000212808|OTTHUMP00000212809|OTTHUMP00000212810|OTTHUMP00000212811|OTTHUMP00000212814|replication initiation region protein (60kD)|replication initiator 1|zinc finger protein 464 (RIP60)|zinc finger protein AP4|zinc finger proten AP4 protein-coding 1316142 REPS1 RALBP1 associated Eps domain containing 1 20946875,17273774,17143522,17081983,15489334,12621024,12477932,12364336,11750063,9422736,9395447,7623849 85021 NM_001128617,AL121834,AL590308,AL591033,CH471051,AA706721,AB209143,AF251052,AI879474,AJ420514,AK312938,NM_031922,AL831900,AL832307,BC012764,BC021211,BC035286,CA424106,CR592162 NP_114128,NP_001122089,CAI42876,EAW47903,EAW47904,EAW47905,EAW47906,EAW47907,BAD92380,AAK34942,BAG35780,CAD38569,AAH12764,AAH21211,Q59GG6,Q5JWJ8,Q96D71,ABM84259,ABM86875,CAI42877,CAI42879,CAX15096,CAX15097,CAX15098 Hs.334603 RALBP1 OTTHUMP00000017305|OTTHUMP00000017306|ralBP1-associated Eps domain-containing protein 1|ralBP1-interacting protein 1 protein-coding 1347143 REPS2 RALBP1 associated Eps domain containing 2 The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19776672,9928989,9422736,18474607,18029348,15707977,15455380,15184881,14702039,12775724,12771942,12149250,11882656,10557078,10393179 9185 NM_001080975,NG_012557,AL732371,AL929302,CH471074,AB208937,AF010233,AF511533,AF512951,AI221053,AK057127,AK097484,NM_004726,AK298913 NP_004717,NP_001074444,CAI40017,CAI41286,CAO03550,EAW98922,EAW98923,BAD92174,AAC02901,AAM43933,AAM43953,Q59H22,Q5JNZ8,Q8NFH8,CAO03570,BAG61020 Hs.186810 POB1 RALBP1-interacting protein 2|partner of Ral-binding protein 1|partner of RalBP1|ralBP1-associated Eps domain-containing protein 2 protein-coding 1351700 RER1 RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) 737633,1580863 9309388,17668005,15489334,14702039,12477932,16169070,16344560,8889548 737633 11079 NM_007033,AL513477,CH471183,AF091071,AF157324,AJ001421,AK095750,AK289658,BC004965,BC025684,BT007224,CR456806,CR624368,BM682824,DA409924,NG_016128 Q5T094,Q6IBJ7,Q9P0H9,NP_008964,CAI22604,CAI22605,CAI22606,CAI22607,EAW56109,EAW56110,EAW56111,EAW56112,EAW56113,EAW56114,AAC72940,AAF67490,CAA04754,BAF82347,AAH04965,AAP35888,CAG33087,O15258,Q5T091,Q5T092 Hs.525527 RP4-740C4.2 OTTHUMP00000001503|OTTHUMP00000039098|OTTHUMP00000039099|protein RER1 protein-coding 1344336 RERE arginine-glutamic acid dipeptide (RE) repeats This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10814707,18597038,17081983,16713569,16710414,16344560,16303743,15302935,14702039,14645126,12766061,12477932,12107413,11782456,11331249,10729226,9455484,20379614,20410501,18029348,20211142,20548946 473 NM_001042681,NM_012102,NM_001042682,AF041104,AL096855,AL356072,AL357552,AL357713,CH471130,AB007927,AB036737,AF016005,AF118275,AK096094,AL050176,BC009619,BC062342,CD674939,CD679363,CR618919,DA868444,AK074834 NP_001036146,NP_036234,NP_001036147,AAC28264,CAI19208,CAI19209,CAH70516,CAH70517,CAH73433,EAW71598,EAW71599,EAW71600,EAW71601,BAA32303,BAA95898,AAC31120,AAD27584,Q9P2R6,AAI67857 Hs.463041 ARG|ARP|ATN1L|DNB1|FLJ38775|KIAA0458 OTTHUMP00000001702|OTTHUMP00000221012|arginine-glutamic acid dipeptide repeats protein|atrophin 2|atrophin-1 like protein|atrophin-1 related protein|atrophin-1-like protein|atrophin-1-related protein protein-coding 4109779 REREP3 arginine-glutamic acid dipeptide (RE) repeats pseudogene 3 646396 AC025884,DN831801,DW010002,NR_033735 Hs.451294 pseudo 1349252 RERG RAS-like, estrogen-regulated, growth inhibitor RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM] 1580863 11533059,18676680,15489334,17207965,12477932,19170196,19625176,19692168 85004 NM_032918,AC007543,AC022334,CH471094,AF339750,AK311016,AK313881,BC007997,CR599509,CR614290,AK295343,CR614972,AI125943,DC331754,NM_001190726 NP_116307,EAW96345,EAW96346,AAK98530,BAG58314,BAG36607,AAH07997,Q96A58,ABM84118,ADQ31628,NP_001177655 Hs.199487 MGC15754 ras-related and estrogen-regulated growth inhibitor protein-coding 1602860 RERGL RERG/RAS-like 12477932 79785 NM_024730,AC073504,AC087320,CH471094,AK026308,BC042888,CR618874 ACT64546,ACT64547,NP_079006,EAW96384,EAW96385,EAW96386,BAB15439,AAH42888,Q9H628 Hs.115497 FLJ22655 RERG/Ras-like protein|ras-related and estrogen-regulated growth inhibitor-like protein protein-coding 2305853 RESP18 regulated endocrine-specific protein 18 7988462,17951542 389075 NM_001007089,AC114803,CH471063,AF437883,AF439399,DQ227570 NP_001007090,EAW70727,AAQ04480,AAQ04549,ABB13523,Q5W5W9 Hs.290551 regulated endocrine-specific protein 18 protein-coding 1347756 REST RE1-silencing transcription factor This gene encodes a transcriptional repressor which represses neuronal genes in non-neuronal tissues. It is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells, and it is thought that this repressor may act as a master negative regular of neurogenesis. Alternatively spliced transcript variants have been described; however, their full length nature has not been determined. [provided by RefSeq] 1580863 19846118,12192000,7871435,7697725,18029348,19439607,19246391,19061646,18990442,18959489,18922795,18771760,18691653,18570921,18518926,18385973,18354483,18354482,18234667,17823282,17709376,17555596,17540862,17468742,17023429,16478988,16442230,16417580,16330548,16288918,16253247,16247481,15767543,15681389,15528196,15489334,15322094,15302935,15240883,15068239,15009665,14633990,14565956,12881722,12829700,12628452,12492469,12477932,12399542,11406295,10766169,10734093,10570134,10521596,10449787,9756936,8568247,15035981,15200951,17011572,20170730,19134002,20392875,18284609,19913121,20628086,19913583,20564196,20926649,18806873,19149626,19173732,19401398,19426709,19539370,19631241,20011975,20080105,20421646,20548947,20624818,21106707,20697351 5978 NM_005612,AB024498,AC069307,CH471057,AB209750,AF228045,BC017822,BC038985,BC132859,BC136491,U13877,U13879,U22314,NM_001193508 NP_005603,EAX05516,EAX05517,BAD92987,AAF61710,AAH17822,AAH38985,AAI32860,AAI36492,AAC50114,AAC50115,AAB17211,Q13127,NP_001180437 Hs.307836 NRSF|XBR RE1-silencing transcription factor|X2 box repressor|neural-restrictive silencer factor|neuron restrictive silencer factor|repressor binding to the X2 box protein-coding 735296 RET ret proto-oncogene This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq] 1580863,2324925,2324932,2324930,2324943,2324926,2324920 19411807,19401695,19399650,19366855,19351817,19343621,19336503,19320641,19306335,19306327,19284088,19282698,19258401,19226610,19223516,19215943,19196962,19186126,19183406,19177457,19147753,19147513,19145771,19107227,19057948,19053769,19029228,19010920,19005720,18976163,18936155,18845906,18845535,18820179,18805915,18794325,18772120,18765511,18756447,18676765,18676680,18661771,18652760,18631007,18612588,18551016,18519677,18515739,18502331,18483257,18438890,18436345,18414682,17388787,17384213,17316110,17274802,17270543,17270245,17227125,17209045,17185892,17138574,17108762,17102080,17065770,17049487,17009072,16986122,16979782,16954442,16946010,16945332,16877807,16868135,16849523,16847065,16818057,16816022,16813162,16778204,16773224,16767674,16732321,16646689,16628270,16596053,16569669,16556802,16555159,16551639,16534860,16525712,16525057,16484222,16483615,16469774,16452504,9294615,9259198,9223675,9192898,9150387,9111993,9111992,9097963,9094028,9090527,9067749,9047384,9043870,8889548,8807338,8806699,8757765,8674117,8631863,8628282,8626834,8625130,8621380,8595427,8557249,8401580,8183561,8114938,8103403,8099202,8084609,7977365,7915165,7914213,7911697,7907913,7906866,7906417,7902707,7881414,9359036,18394855,18393128,18365214,18355321,18353552,18331611,18322301,18316596,18316595,18299477,18286198,18284634,18282654,18273880,18258924,18252215,18248681,18248648,18226854,18222320,18189271,18090939,18073307,18063059,18062802,18058472,18029348,17954268,17954023,17952863,17934909,17900235,17895320,17825269,17786355,17727338,17664273,17639058,17639057,17623957,17610518,17605401,17599050,17576593,17573899,17554617,17527003,17490619,17471236,17464312,17440194,17431108,17397038,16441254,16419493,16388093,16384843,16357163,16344560,16314641,16269442,16230779,16227613,16203990,16181547,16153436,16144862,16127999,16118333,16053382,16007166,15994200,15988377,15956201,15953945,15940252,15933516,15844786,15841388,15834508,15829955,15785245,15769183,15761501,15759212,15753666,15741265,15716612,15677445,15657578,15643606,15633231,15632018,15592804,15588985,15583857,15548547,15523405,15502856,15491993,15485908,15469971,15355438,15351743,15350625,15331579,15320968,15316058,15297606,15292360,15286081,15277225,15273715,15271413,15240857,15240649,15231654,15225646,15142370,15138456,15129804,15044950,14981541,14766744,14761598,14739491,14711813,14602786,14600022,14586073,14566559,14557473,14555929,14508694,12959980,12939698,12884527,12881714,12872262,12841548,12788868,12787916,12767512,12727845,12720532,12720173,12670889,12640453,12637586,12632375,12608895,12519890,12490841,12477932,12474140,12466368,12439935,12355085,7874109,7860065,7849720,7849700,7845675,7784092,7731689,7704557,7678053,7675449,7665556,7633441,7595169,7581377,7478523,6745938,3697657,3078962,3037315,2734021,2687772,2660074,2406025,2310396,2181380,1678508,1611909,1569189,1350670,9047383,11390647,16448984,12242309,12214285,12193298,12187076,12182058,12182057,12176011,12161537,12114746,12087092,12086152,12085189,12057919,12056817,12000816,11979448,11973622,11955539,11953748,11953745,11950855,11949835,11935126,11932334,11932300,11927965,11900218,11886862,11883863,11839664,11803116,11788682,11746981,11692159,11589684,11581189,11536047,11470823,11360177,11238493,11121408,11116144,11061555,10982477,10980597,10922382,10850414,10829012,10826520,10777380,10774729,10652352,10618407,10612852,10522989,10521317,10484767,10445857,10439047,10323403,10233362,10208419,10090908,10070972,10024437,9915833,9880212,9840920,9802801,9760196,9740802,9727738,9700200,9677065,9621513,9620546,9506724,9502784,9497256,9426223,9398735,9393871,9384613,9360560,20347960,19841562,20598273,20840674,20373984,20463576,20532249,19444888,18402529,7824936,8114939,19487299,19487296,20012784,20531297,20627492,20554711,20565774,20634891,20801952,20098747,20700745,20944145,20210798,20395301,16385451,18505566,19138318,19170196,19472011,19475497,19495791,19543246,19551609,19556619,19561646,19625176,19650860,19666486,19678735,19692168,19765726,19825962,19834765,19853744,19897677,19900702,19903778,19906784,19958926,19959718,20063095,20080836,20089534,20101222,20103606,20119574,20123584,20142552,20152359,20182906,20205103,20208144,20237269,20361209,20375987,20379614,20453000,20454948,20473317,20489179,20495744,20521125,20526288,20083156,20442138,20538960,20819778,20860430,20979234,21054478 2324925,2324932,2324930,2324943,2324926,2324920 5979 NM_020975,NM_020630,NG_007489,AC010864,AF032124,AF520975,AF520979,AF520983,AJ243297,CH471160,D00617,S80097,S80552,S83049,Y15743,AI472270,AK291807,AK294827,AW297789,BC003072,BC004257,BE261914,BM661773,BM703293,BQ070075,BX332519,BX376396,DA100452,DA911581,H24956,X15262,Y12528,CS542500 CAA33333,NP_066124,NP_065681,AAB97168,AAM77275,AAM77279,AAM77283,CAB46483,EAW86576,EAW86577,EAW86578,EAW86579,EAW86580,EAW86581,EAW86582,EAW86583,EAW86584,AAB47046,AAB47047,AAB50647,AAD14423,CAA75753,BAF84496,BAG57939,AAH03072,AAH04257,CAA73131,O43519,P07949,Q15850,Q2VJ45,Q8IZR8,Q8NFE8,Q99886,Q9BTB0,Q9BTX6,Q9UE13,Q9UM84,Q9UM90,Q9UMQ4,Q9UQV8,CAM91187 Hs.350321 CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1|RET51 OTTHUMP00000216967|RET transforming sequence|cadherin family member 12|cadherin-related family member 16|hydroxyaryl-protein kinase|proto-oncogene c-Ret|proto-oncogene tyrosine-protein kinase receptor Ret|receptor tyrosine kinase|ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease) protein-coding 1349693 RETN resistin This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. [provided by RefSeq] 1580863,2313494,2313497,2313498,2313495,2307186,2313499,1624968 19913121,20538124,20591185,20602615,20628086,20802460,20215915,20637370,20670155,15064728,15055467,14967374,14740159,14733921,14715842,14697240,14688155,14687894,14671216,14602788,14557464,14521959,14514348,12975309,12965109,12874180,12829623,12730330,12700889,12679465,12660880,12647275,12629116,12504108,12502516,12477932,12213908,12213907,12050208,11994397,11978666,11901161,11872693,11872692,11809189,11558907,11358969,11209052,11201732,11090083,10921885,8211113,17924842,17785630,17727677,17705672,17698599,17635339,17598818,17565416,17526982,17525801,17445546,17441314,17392006,17384443,17384338,17383891,17374708,17365928,17327348,17299113,17287419,17223990,17208941,17207388,17184143,17178123,17177135,17175295,17148667,17067553,16934751,16921786,16822679,16756630,16721825,16685503,16675483,16670163,16608899,16586545,16532325,16525810,16496121,16478779,16418168,16395259,16394091,16313475,16159596,16137686,17967974,16143861,16087164,16061827,16039994,15983036,15956078,15944845,15928242,15886251,15864531,15862282,15843582,15842513,15798953,15757855,15754730,15741250,15705777,15598689,15545519,15533384,15526156,15517149,15489334,15338456,15326567,15248836,15221446,15130511,15111497,15070954,20628259,20091460,20435848,20106477,19955766,20082598,17207965,20648005,20734064,20842437,20855565,19754671,20836881,19544118,19491387,19454585,19420105,19408175,19381781,19372460,19351602,19273568,19269054,19247279,19243851,19223612,19178525,19177195,19126543,19125180,19074981,19065463,19058789,19056482,18997620,18996102,18979105,18975914,18957529,18828733,18815063,18800626,18798067,18789551,18787374,18768828,18710472,18709689,18660489,18654008,18577878,18565254,18501464,18498634,18465683,18446452,18446183,18440081,18410529,18381806,18283268,18280066,18257120,18239575,18234104,18221467,18180399,18167137,18059079,18023360,19408174,20203628,19249901,20150891,17183659,19225215,19262583,19440859,19445973,19560452,19578796,19717514,19719988,19727657,19738363,19770005,19811274,19848317,19882136,19888587,19920090,19922611,19948975,20034466,20061546,20093199,20171599,20300528,20306680,20346233,20464037,16115391,20177966,20360975,20979734,20422438 2313494,2313497,2313498,2313495,2313499,1624968 56729 NM_020415,AC008763,AF352730,CH471139,DQ301958,AF205952,AF290874,AF323081,AY207314,AY359066,BC069302,BC101554,BC101560,NG_023447,NM_001193374 ADQ32888,NP_065148,AAK18621,EAW69015,EAW69016,ABB96251,AAG02144,AAK83106,AAG59824,AAO38860,AAQ89425,AAH69302,AAI01555,AAI01561,Q9HD89,NP_001180303 Hs.283091 ADSF|FIZZ3|MGC126603|MGC126609|RETN1|RSTN|XCP1 C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 1|adipose tissue-specific secretory factor|c/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein|cysteine-rich secreted protein A12-alpha-like 2|cysteine-rich secreted protein FIZZ3|found in inflammatory zone 3|resistin protein-coding 1345045 RETNLB resistin like beta 1580863 11209052,18594973,16427636,15489334,15064728,14598255,12975309,12574343,12477932,12224133,11090083,10921885,19251945,19967544 84666 NM_032579,AC092185,AF352731,CH471052,AF290873,AF323084,AM050721,AY358655,BC069318,BC113502,BC113528 NP_115968,AAK18622,EAW79719,AAK83105,AAG59827,CAJ19371,AAQ89018,AAH69318,AAI13503,AAI13529,Q2UXL7,Q9BQ08,ADR82797 Hs.307047 FIZZ1|FIZZ2|HXCP2|RELM-beta|RELMb|RELMbeta|XCP2 C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 2|colon and small intestine-specific cysteine-rich protein|colon carcinoma-related gene protein|cysteine-rich secreted A12-alpha-like protein 1|cysteine-rich secreted protein A12-alpha-like 1|cysteine-rich secreted protein FIZZ2|found in inflammatory zone 1|resistin-like beta protein-coding 1351972 RETNLG resistin like gamma 373068 AJ514933 731874 RETSAT retinol saturase (all-trans-retinol 13,14-reductase) 15358783,19139408,16344560,16303743,15815621,15489334,14702039,12975309,12477932,9373149,8125298 54884 DA418052,DB001412,NM_017750,AC062037,AC093162,CH471053,CQ783381,AK000303,AK075261,AK225305,AK296522,AL833237,AY358568,BC011418,BC068517,BQ448420,CR590025,CR615429,CR623428 Q6NUM9,ACE87183,ACE86502,NP_060220,AAY24126,AAY24096,EAW99530,EAW99531,EAW99532,EAW99533,CAF86585,BAA91069,BAC11505,BAG59153,AAQ88931,AAH11418,AAH68517 Hs.440401 FLJ20296 OTTHUMP00000202928|OTTHUMP00000202929|all-trans-13,14-dihydroretinol saturase|all-trans-retinol 13,14-reductase protein-coding 1315491 REV1 REV1 homolog (S. cerevisiae) This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. Two alternatively spliced transcript variants that encode different proteins have been found. [provided by RefSeq] 1580863 19390575,19157994,19074885,18975621,18591245,18498753,18470628,18270339,16824193,16803901,16495473,15815621,15609317,15380106,15189446,14702039,14657033,12930947,12529368,12477932,11278384,10906324,10760286,10094488,8889548,10536157,11485998,20888339,20691646,19170759,19464298,19628463,19661089,19789190,20028736,20059978,20164194,20453000 51455 NM_016316,NM_001037872,AC018690,CH471127,AB047646,AF151538,AF206019,AF357886,AJ131720,AK002087,AK025176,AK307719,BC037734,BC130411,BM683065,CR618059 NP_057400,NP_001032961,AAY24314,EAX01860,EAX01861,EAX01862,EAX01863,BAB21441,AAF06731,AAF18986,AAK43708,CAB38231,BAA92079,AAH37734,AAI30412,Q49AI5,Q9UBZ9 Hs.443077 FLJ21523|MGC163283|MGC26225|REV1L AIBP80|DNA repair protein REV1|REV1- like|alpha integrin-binding protein 80|rev1-like (yeast)|rev1-like terminal deoxycytidyl transferase protein-coding 1316069 REV3L REV3-like, catalytic subunit of DNA polymerase zeta (yeast) 1580863 17148452,19289490,19564618,19661089,20028736,20054135,20164194,20453000,10856253,10660610,10575223,10102035,9925914,9635887,20953190,11115544,9618506,19237606,19074885,18779149,18622427,17081983,16094384,15189446,14574404,12717825,12459444,11485998,20466635 5980 NM_002912,AL080317,AL136310,AL512325,CH471051,AB209256,AF004713,AF035537,AF058701,AF071798,AF078695,AF157476,AF179428,AF179429,AF303220,AK310949,AL096744,BC035823,BE645210 NP_002903,CAI20509,CAI20998,EAW48292,EAW48293,EAW48294,BAD92493,AAF21598,AAB88486,AAC24357,AAC24009,AAC28460,AAD40184,AAG09402,AAG09403,CAB62529,AAH35823,O60673,Q59G53,Q8IWK0,Q9UG47,Q9UID5,AAI72423,CAI19192 Hs.232021 POLZ|REV3 DNA polymerase zeta catalytic subunit|OTTHUMP00000017934|Polymerase, DNA, zeta (Rev-3, yeast, homolog of)|Rev-3, yeast, homolog-like (polymerase, DNA, zeta)|hREV3|protein reversionless 3-like protein-coding 1320447 REXO1 REX1, RNA exonuclease 1 homolog (S. cerevisiae) 737633 15489334,15302935,12943681,12477932,10574461,16169070,20463961 737633 57455 NM_020695,AC012615,CH471139,AB032964,AK301030,AK301729,AK302362,AK308256,AK311255,BC016923,BC032244,CR593335 NP_065746,EAW69450,EAW69451,BAA86452,BAG62645,BAG63195,BAG63687,AAH16923,AAH32244,Q05DB0,Q8N1G1 Hs.192477 ELOABP1|EloA-BP1|KIAA1138|REX1|TCEB3BP1 RNA exonuclease 1 homolog|elongin A binding protein 1|elongin A-binding protein 1|elongin-A-binding protein 1|transcription elongation factor B polypeptide 3 binding protein 1|transcription elongation factor B polypeptide 3-binding protein 1|transcription elongation factor b polypeptide 3 binding protein 1 protein-coding 1606670 REXO1L1 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 17699833,12477932,11472404,1701012,9846365 254958 NM_172239,AC093331,AF023669,AF495523 NP_758439,AAC98149,AAN77012,Q8IX06,AAI67782 Hs.373854 GOR GOR antigen|RNA exonuclease 1 homolog-like 1|antigen GOR homolog|exonuclease GOR protein-coding 1602385 REXO1L2P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2 (pseudogene) 12477932,16421571 100288527 NR_003594,AC232323,BC112074,BC113453 A0PJM3 Hs.535056 GOR pseudo 1602387 REXO1L3P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 3 (pseudogene) 441359 NG_009316,AC093331 pseudo 2298830 REXO1L4P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 4 (pseudogene) 653042 NG_007182,AF279874,AC232323 pseudo 1602386 REXO1L5P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 5 (pseudogene) 441361 NG_009317,AC232323,AF279874 pseudo 3497906 REXO1L6P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6 (pseudogene) 12477932 441362 AC232323,NG_016769 pseudo 1602384 REXO1L7P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 7 (pseudogene) 441363 NG_009610,AF279874 pseudo 2303459 REXO1L8 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 8 392242 NG_009604,AC093331 pseudo 1603665 REXO2 REX2, RNA exonuclease 2 homolog (S. cerevisiae) Nucleases are components of DNA and RNA metabolism that carry out functions in DNA repair, replication, and recombination and in RNA processing and degradation. SFN is a homolog of Orn, a 3-prime-to-5-prime exoribonuclease of E. coli that attacks the free 3-prime hydroxyl group on single-stranded RNA, releasing 5-prime mononucleotides in a sequential manner.[supplied by OMIM] 20877624,8125298,10851236,18023590,16381901,15592455,15489336,15489334,15362935,14702039,12477932,11256614,11230166,11076863,10810093,9373149 25996 NM_015523,AP002373,CH471065,AF151872,AI249345,AK023498,AK223200,AK312042,AL110239,BC003502,BC066947,BC105024,BC105026,BC107887,BC143701,CR533500,DB471224 NP_056338,EAW67249,EAW67250,AAD34109,BAD96920,BAG34979,CAB53690,AAH03502,AAI05025,AAI05027,AAI07888,AAI43702,CAG38531,Q9BTR4,Q9Y3B8,CAL37530 Hs.677190,Hs.714231 CGI-114|DKFZp566E144|MGC111570|REX2|RFN|SFN RNA exonuclease 2 homolog|oligoribonuclease, mitochondrial|small fragment nuclease protein-coding 1314713 REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) 1580863 10908561,16381901,15489336,15489334,15164053,14702039,12477932,12429849,11256614,11230166,11076863,20098615,9325058 57109 NM_020385,AL158826,CH471090,AF273304,AF295774,AK000247,AK025493,AK295982,AK304547,AK310164,AK314333,AK315904,AL136894,BC009274,BC071691,CR591994,CR597347,AL593848 NP_065118,CAI12845,CAI12847,CAI12848,CAI12849,EAW88082,AAF98162,AAG02123,BAB15152,BAG58757,BAG65343,BAG36979,BAH14275,CAB66828,AAH09274,Q9GZR2,CAL37495,ABM82837,ABM86022 Hs.438409 REX4|XPMC2|XPMC2H OTTHUMP00000022485|OTTHUMP00000022486|RNA exonuclease 4|XPMC2 prevents mitotic catastrophe 2 homolog|Xenopus prevents mitotic catastrophe 2 homolog|Xenopus prevents mitotic catatrophe 2 homolog|exonuclease XPMC2|hPMC2|prevents mitotic catastrophe 2 protein homolog protein-coding 1353491 RFC1 replication factor C (activator 1) 1, 145kDa The protein encoded by this gene is the large subunit of replication factor C, which is a five subunit DNA polymerase accessory protein. Replication factor C is a DNA-dependent ATPase that is required for eukaryotic DNA replication and repair. The protein acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It also may have a role in telomere stability. [provided by RefSeq] 2306716,1580863 8248204,8954124,16438930,9111189,9488738,9822671,19427504,19307503,19274320,19237606,19223468,19172696,19159907,19105199,19093297,19020309,19019492,18842806,18823966,18799873,18629538,18609071,18607581,18528741,18458567,18447718,18406541,18273817,18258338,18204969,18060320,18023275,18022874,17702010,15655353,15635413,15489334,15457444,15302935,15231126,15198953,15060097,15059614,15044114,14632302,14561664,12947101,12855225,12766176,12753319,12707400,12673279,12509469,12477932,12411325,12220650,12192049,12171929,12045192,11877377,11857541,10783165,10353443,9705493,9563011,9351817,9235961,9121429,8999859,8861969,8692848,8512577,8114700,7914507,9443979,12393188,17545166,17449906,17439323,17410198,17325736,17208363,17181924,17180579,17081983,16964243,16845273,16712703,16596679,16565220,16522921,16471213,16343969,16289162,16284371,16141796,16115349,16086047,16019224,15952116,15799025,15772763,15769366,15677700,20713449,19714462,19913121,20574454,20628086,20634891,20661649,17148452,18245774,19208620,19461557,19493349,19533788,19548564,19706844,19729796,19774638,19776634,19827168,19858780,19956635,20081198,20141435,20226869,20237949,20310006,20335220,20466634,20468076,20472929,20511665,20522537,20544798,20211142,20948192,21045269,21077165 2306716 5981 NM_002913,AC023135,AC093855,AY600371,CH471069,AF040250,AJ564999,AK291612,BC010387,BC035297,BC051751,BC051786,CR606083,L23320,L24783,X69821,X75917 ABZ92532,Q14297,Q14756,NP_002904,AAS94325,EAW92922,EAW92923,EAW92924,AAB99788,CAD92367,BAF84301,AAH35297,AAH51751,AAH51786,AAA16121,CAA49475,CAA53517,P35251 Hs.507475 A1|MGC51786|MHCBFB|PO-GA|RECC1|RFC|RFC140 A1 140 kDa subunit|DNA-binding protein PO-GA|MHC binding factor, beta|RF-C 140 kDa subunit|activator 1 140 kDa subunit|activator 1 large subunit|activator 1 subunit 1|replication factor C 140 kDa subunit|replication factor C large subunit|replication factor C subunit 1|replication factor C1 protein-coding 1348076 RFC2 replication factor C (activator 1) 2, 40kDa The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also called activator 1, is a protein complex consisting of five distinct subunits of 145, 40, 38, 37, and 36.5 kD. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP. Deletion of this gene has been associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 2306716,1580863 17148452,17643375,19615732,20226869,20522537,1313560,15655353,12791985,9111189,9488738,9822671,19237606,18245774,16413017,15635413,15489334,15096576,14605214,12930902,12853948,12766176,12477932,12192049,12171929,12036885,11907025,11003705,10783165,10051561,9228079,9121429,8812460,8692848,8651315,8093561,7774928,9751713,20574454,19661379,21077165 2306716 5982 CH471200,AB451243,AB451368,AL560344,BC002813,BQ070526,BT007058,CR590546,CR610195,CR615462,CR616761,CR626780,M87338,NM_002914,NM_181471,NG_008102,AC005081,AF045555,AF483622 EAW69605,EAW69606,EAW69607,EAW69608,BAG70057,BAG70182,AAH02813,AAP35707,AAB09786,P35250,Q75MT5,NP_002905,NP_852136,AAP22334,AAP22335,AAC04860,AAL82503 Hs.647062 A1|MGC3665|RFC40 A1 40 kDa subunit|RF-C 40 kDa subunit|activator 1 40 kDa subunit|activator 1 subunit 2|replication factor C 2|replication factor C subunit 2 protein-coding 1315670 RFC3 replication factor C (activator 1) 3, 38kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 2306716,1580863 9488738,7774928,9111189,16079077,9822671,19237606,17456004,16344560,15635413,15489334,14702039,14605214,12930902,12766176,12477932,12192049,12171929,11907025,11572977,10884395,10051561,9373149,9228079,9121429,9092549,8692848,8441605,8125298,18245774,20573375,19913121,20574454,20628086,12791985,14657243,17643375,19615732,19749422,20226869,20379614,21077165 2306716 5983 NM_002915,AF484446,AL139081,AL160394,AL161891,CH471075,AA447424,AI221523,AK128459,AK222572,AK296527,AK312544,AL596753,BC000149,BQ022288,BT019668,BU618419,CR598980,CX786577,DA943219,L07541,NM_181558 ABM85044,NP_853536,NP_002906,AAL82505,CAH70947,EAX08537,EAX08538,BAD96292,BAG59158,AAH00149,AAV38474,AAB07268,P40938,Q53HK8,Q5U0C2,ABM81881 Hs.115474 MGC5276|RFC38 A1 38 kDa subunit|RF-C 38 kDa subunit|RFC, 38 kD subunit|activator 1 38 kDa subunit|activator 1 subunit 3|replication factor C 38 kDa subunit|replication factor C subunit 3 protein-coding 1320871 RFC4 replication factor C (activator 1) 4, 37kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 2306716,1580863 17148452,17643375,18245774,19237606,19615732,20226869,20522537,9228079,9121429,8692848,1351677,16189514,9488738,15504738,12791985,7774928,9111189,9822671,18492021,16344560,16341674,15655353,15635413,15489334,12930902,12766176,12736711,12509469,12477932,12192049,12171929,12045192,11907025,11572977,11486023,11326315,10353443,10329413,10051561,9396813,9751713,14605214,20574454,21077165 2306716 5984 NM_181573,AC112907,AF538718,CH471052,AA521171,AK297282,BC017452,BC024022,BM837975,BT006987,CR536561,CR594581,CR604460,CR608475,CR616552,CR625223,CX788139,DA359927,NM_002916 NP_002907,NP_853551,AAM97933,EAW78169,EAW78170,EAW78171,BAG59753,AAH17452,AAH24022,AAP35633,CAG38798,P35249,ABM84404,ABM84469,ABM84732,ABM87354 Hs.714318 A1|MGC27291|RFC37 A1 37 kDa subunit|OTTHUMP00000210039|RF-C 37 kDa subunit|RFC 37 kDa subunit|activator 1 37 kDa subunit|activator 1 subunit 4|replication factor C 37 kDa subunit|replication factor C subunit 4 protein-coding 1319540 RFC5 replication factor C (activator 1) 5, 36.5kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 36 kD subunit. This subunit can interact with the C-terminal region of PCNA. It forms a core complex with the 38 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 2306716,1580863 20800603,21077165,8999859,12791985,9111189,9488738,9822671,16344560,16169070,15635413,15489334,14702039,12930902,12766176,12477932,12237462,12192049,12171929,11907025,11572977,10051561,9751713,9396813,9228079,9121429,8692848,8441605,7774928,16189514,14605214,17353931,20574454,17643375,18245774,19237606,20226869,20522537,17207965 2306716 5985 NM_181578,NM_007370,NM_001130112,NM_001130113,AC131159,AY254323,AB208992,AK094575,AK290685,AK291107,BC001866,BC013961,BC020440,BM153733,CR407651,DB270923,L07540 NP_853556,NP_031396,NP_001123584,NP_001123585,AAO63493,BAD92229,BAG52890,BAF83374,BAF83796,AAH01866,AAH13961,CAG28579,AAB09784,P40937,Q59GW7,Q6LES9,ADQ32284 MGC1155|RFC36 A1 36 kDa subunit|OTTHUMP00000209892|RF-C 36 kDa subunit|RFC, 36.5 kD subunit|activator 1 36 kDa subunit|activator 1 subunit 5|replication factor C 36 kDa subunit|replication factor C subunit 5 protein-coding 1605818 RFESD Rieske (Fe-S) domain containing 16461635,12477932 317671 NM_173362,NM_001131065,NM_001131066,AC008547,CH471084,BC024023,BC035110,BC048979,BI551847,BM263054,BX114571,CR624547,DN914641 NP_775498,NP_001124537,NP_001124538,EAW96042,EAW96043,EAW96044,EAW96045,AAH24023,AAH35110,AAH48979,Q8TAC1 Hs.399758 OTTHUMP00000222475|Rieske domain-containing protein protein-coding 1605590 RFFL ring finger and FYVE-like domain containing 1 19690564,19305408,18450452,18382127,17121812,15576038,15489334,15302935,15229288,15069192,14702039,12477932,20677014,17207965,19773279,18029348 117584 NM_057178,NM_001017368,AC004223,CH471147,AF434816,AK093112,AK308689,AY098935,BC015681,BC028424,CK001659,CR933651,BG771625,DB459719,NR_037713 NP_476519,NP_001017368,EAW80172,EAW80173,EAW80176,EAW80177,EAW80178,AAL30771,BAC04059,AAM29181,AAH15681,AAH28424,CAI45952,Q8WZ73,ADQ31694 Hs.13680 CARP-2|CARP2|FRING|RIFIFYLIN|RNF189|RNF34L CARP-2|E3 ubiquitin-protein ligase rififylin|FYVE-RING finger protein SAKURA|OTTHUMP00000163860|RING finger and FYVE-like domain-containing protein 1|RING finger protein 189|RING finger protein 34-like|caspase regulator CARP2|caspases-8 and -10-associated RING finger protein 2|fring protein-coding 1313443 RFK riboflavin kinase 737633,1580863 9110174,8619474,16169070,12623014,19010793,15489334,14702039,14580199,12477932,16344560,19641494,20877624 737633 55312 NM_018339,AL391868,CH471089,AF038172,AK002011,AK123933,AK315734,BC007069,BF979572,CR603745,CR615561,CR618476,DB531307,AK307079,DA154523,DB499473 NP_060809,CAI40676,EAW62578,EAW62579,BAA92033,BAG38089,AAH07069,Q969G6 Hs.37558 FLJ11149|RIFK|RP11-422N19.2 0610038L10Rik|ATP:riboflavin 5'-phosphotransferase|OTTHUMP00000216103|flavokinase|riboflavin kinase protein-coding 4888992 RFKP1 riboflavin kinase pseudogene 1 100313962 AL365184,NG_016107 pseudo 4889059 RFKP2 riboflavin kinase pseudogene 2 100132753 AC024887,NG_016114 pseudo 1345692 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 1302739,1580863,2302204 10341080,14702039,12477932,11165380,9187150,9110174,8619474 1302739,2302204 5986 NM_002917,AC135056,AF108139,CH471099,AF038196,AK094016,AK293568,AK302068,BC014495,BC035781,BC050399,BC069034,BC080181,BC146805,BF435018,CR591722,CR619678,U94353 NP_002908,AAD34321,EAW89735,EAW89736,EAW89737,EAW89738,EAW89739,EAW89740,BAC04269,BAG57039,BAG63458,AAI46806,AAC51359,Q8N9R1,Q9Y644 Hs.569700 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase|beta-1,3-N-acetylglucosaminyltransferase radical fringe|radical fringe homolog|radical fringe homolog (drosophila) protein-coding 1343182 RFP2OS ret finger protein 2 opposite strand 448961 AF529010 1348433 RFPL1 ret finger protein-like 1 1580863 18656177,15461802,12477932,10508838,20009918 5988 NM_021026,AC000041,CH471095,AJ010228,AJ010229,BC104768,CR456562 NP_066306,EAW59801,EAW59802,CAA09043,CAA09044,CAG30448,O75677,CAK54592,CAK54891,ABZ92533 Hs.648249 MGC132428|RNF78 RING finger protein 78|ret finger protein-like 1 protein-coding 1345884 RFPL1S RFPL1 antisense RNA (non-protein coding) 16344560,15461802,12477932,10508838 10740 NR_002727,AC000041,AJ010230,AW157535,BC027468,CR456561,DA509757 Hs.167750 NCRNA00006|RFPL1-AS|RFPL1AS miscrna 1342537 RFPL2 ret finger protein-like 2 1580863 10508838,18656177,15489334,15461802,14702039,12477932,10591208 10739 NM_006605,NM_001098527,NM_001159545,NM_001159546,AL008723,CH471095,AJ010231,AK055999,BC051910,BC069737,BC069827,CR456563,DB549304 NP_006596,NP_001091997,NP_001153017,NP_001153018,CAB51756,EAW60009,EAW60010,EAW60011,EAW60012,EAW60013,CAA09045,AAH51910,AAH69737,AAH69827,CAG30449,O75678,Q6NSX6,CAK54594,CAK54893,ABZ92534 Hs.157427 RNF79 RING finger protein 79|ret finger protein-like 2 protein-coding 1351885 RFPL3 ret finger protein-like 3 1580863 10508838,18656177,15461802,14702039,12477932,10591208 10738 NM_006604,NM_001098535,AL021937,CH471095,AJ010232,AK097738,BC031689,BC069753,CR456564 NP_006595,NP_001092005,CAB38256,CAI19583,EAW60019,CAA09046,AAH31689,AAH69753,CAG30450,O75679,Q8N5R4,CAK54595,CAK54894,ABZ92295,ACE87306,ACE86625 Hs.558455 OTTHUMP00000165867|ret finger protein-like 3 protein-coding 1347346 RFPL3S RFPL3 antisense RNA (non-protein coding) 12477932,10508838 10737 NR_002596,NR_001450,AJ010233,BC031635,BC042824,BC066983,BC090926 Hs.274285 NCRNA00005|RFPL3-AS|RFPL3ANT|RFPL3AS|dJ149A16.3 miscrna 1349182 RFPL4A ret finger protein-like 4A 16364311,15057824,11850190,20379614 342931 NM_001145014,AC008749 NP_001138486,A6NLU0 Hs.631553 RFPL4|RNF210 RING finger protein 210|ret finger protein-like 4|ret finger protein-like 4A protein-coding 1606355 RFPL4B ret finger protein-like 4B 14702039,12477932 442247 NM_001013734,AL365214,AK122906,BC132796,BC132798 NP_001013756,BAC85513,AAI32797,AAI32799,Q6ZWI9,ADR82895 Hs.448264 RNF211 OTTHUMP00000218237|RING finger protein 211|ret finger protein-like 4B protein-coding 1342907 RFT1 RFT1 homolog (S. cerevisiae) This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In. 737633,1580863 18313027,12477932,11807558,20379614 737633 91869 NM_052859,NG_009203,AC096887,CH471055,AJ318099,AK098811,AL713685,BC006846,BC043595,BC101247,BC101248,BC101249,BC101250,BC113058,BC113059,CR605993,CR613853,CR619807 NP_443091,EAW65277,EAW65278,CAC69544,BAC05420,AAH06846,AAH43595,Q8N779,Q96AA3 Hs.631910 CDG1N|DKFZp667J092|FLJ25945 OTTHUMP00000214030|RFT1, requiring fifty three 1 homolog|protein RFT1 homolog|putative endoplasmic reticulum multispan transmembrane protein protein-coding 1604380 RFTN1 raftlin, lipid raft linker 1 20395239,19553259,19834535,20379614,17081983,16344560,15489334,12805216,12477932,7788527 23180 NM_015150,AC010727,AC090948,CH471055,AK074446,AK301024,AK303846,AK310258,AU138240,AY237654,BC006400,BC014032,BC032349,BC041884,BC051336,BC069209,BC098270,BC100667,BC100669,BC121795,CR626088,D42043 NP_055965,EAW64273,EAW64274,EAW64275,BAG62640,BAG64789,AAO91814,AAH06400,AAH14032,AAH32349,AAH51336,AAH69209,AAH98270,AAI00668,AAI00670,AAI21796,BAA07644,Q14699,Q5JB43,Q8N5I0,Q9BRA3 Hs.98910 FLJ23866|KIAA0084|MGC141678|MGC44480|MIG2|PIB10|PIG9|RAFTLIN OTTHUMP00000211201|cell migration-inducing gene 2 protein|proliferation-inducing protein 10|proliferation-inducing protein 9|raft-linking protein|raftlin protein-coding 2881603 RFTN1P1 raftlin, lipid raft linker 1 pseudogene 1 12815422 360015 AC007275,NG_002933 pseudo 1316421 RFTN2 raftlin family member 2 15815621,15489334,14702039,12477932 130132 AC020550,AC114800,CH471063,AK055136,BC039690,BC093966,BC111069,BC113361,BX647618,NM_144629 AAX93148,AAY24079,EAW70169,BAB70861,AAH93966,AAI11070,AAI13362,Q52LD8,NP_653230,ADR83020 Hs.591615 C2orf11|FLJ30574|MGC117313|Raftlin-2 chromosome 2 open reading frame 11|raft-linking protein 2|raftlin-2 protein-coding 1346229 RFWD2 ring finger and WD repeat domain 2 1580863,2316155 18815134,17968316,16931761,15492238,15103385,14739464,14702039,12615916,12477932,12466024,11461903,10395541,20959491,20843328,20677014,16949367,17805301,19741714,19805145,20379614,17041588,18029348,16497536 2316155 64326 NM_022457,NM_001001740,AL162736,AL359265,AL513329,AL590723,BK000438,CH471067,AF508940,AF527539,AK001278,AK314750,AY509921,BC020845,BC039723,BC094728,BX537932,CD101686,CR607741,CR625231 NP_071902,NP_001001740,CAH73623,CAH73624,CAH73625,CAH71138,CAH71139,CAH71140,CAH72422,CAH72423,CAH72425,CAI14641,CAI14642,CAI14643,DAA01050,EAW90999,EAW91000,EAW91001,EAW91002,AAM34692,AAQ08989,BAG50884,BAG37289,AAS82851,AAH20845,AAH94728,Q05CT6,Q8NHY2 Hs.523744 COP1|FLJ10416|RNF200|RP11-318C24.3 E3 ubiquitin-protein ligase RFWD2|OTTHUMP00000032912|OTTHUMP00000032913|RING finger and WD repeat domain protein 2|RING finger protein 200|constitutive photomorphogenesis protein 1 homolog|constitutive photomorphogenic protein (COP1)|hCOP1|putative ubiquitin ligase COP1 protein-coding 1353893 RFWD2P ring finger and WD repeat domain 2 pseudogene 494517,729391 AP001094,NG_016737 RFWD2P pseudo 1349611 RFWD3 ring finger and WD repeat domain 3 737633 17567985,15489334,14702039,12477932,19690564,19844255,20173098,19549727 737633 55159 NM_018124,AC109599,CH471114,AK001382,AK022673,AK291200,AK296727,AK315786,BC002574,BC059371,BM467919,BP872110 NP_060594,EAW95680,EAW95681,BAB14169,BAF83889,BAG59315,BAG38132,AAH02574,AAH59371,Q6PCD5,BAA91662 Hs.567525 FLJ10520|RNF201 E3 ubiquitin-protein ligase RFWD3|RING finger and WD repeat domain-containing protein 3|RING finger protein 201 protein-coding 1315268 RFX1 regulatory factor X, 1 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the X-boxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes. [provided by RefSeq] 1580863 8289803,16464847,1505960,19334528,18673564,17630394,16289097,16287876,15528357,15489334,15334059,15302935,15024578,12624117,12477932,12411430,11986307,11682486,11358531,10642512,10330134,9733744,9583676,8889548,8661125,8600444,8413236,8224874,2253877,1508204,16169070,20223637,11748221,15231748,19620312,20189986,20381594 5989 NM_002918,AC020916,AC022098,CH471106,AI917511,AK309824,BC049826,BM557928,BM662273,X58964,A20498 NP_002909,EAW84387,AAH49826,CAA41730,P22670,CAA01506 Hs.655215 EFC|RFX MHC class II regulatory factor RFX|MHC class II regulatory factor RFX1|enhancer factor C|regulatory factor X 1|trans-acting regulatory factor 1|transcription factor RFX1 protein-coding 1343231 RFX2 regulatory factor X, 2 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq] 1580863 20381594,8289803,16189514,15229132,15024578,14702039,12477932,11986307,11682486,10330134,8889549,8661125,1505960,19913121,20628086,20889312 5990 NM_000635,AC005784,AC011444,CH471139,AI149945,AI863426,AK024288,AK093977,AK291196,AK302661,AK303321,BC028579,BC071571,BI464247,BX648130,CR601447,NM_134433,DC400266,N23669,X76091 NP_602309,NP_000626,AAC62839,EAW69112,EAW69113,EAW69114,EAW69115,EAW69116,EAW69117,BAG51286,BAF83885,BAH13773,BAH13941,AAH28579,AAH71571,CAA53705,P48378,Q75MR3,ABM86238,ABW03697 Hs.465709 FLJ14226 DNA binding protein RFX2|DNA-binding protein RFX2|HLA class II regulatory factor RFX2|regulatory factor X 2|trans-acting regulatory factor 2 protein-coding 1317168 RFX3 regulatory factor X, 3 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Two transcript variants encoding different isoforms have been described for this gene, and at least one of the variants utilizes alternative polyadenylation signals. [provided by RefSeq] 8289803,12411430,16189514,15489334,15164053,15024578,12477932,11682486,10330134,8600444,19671664 5991 NM_002919,AL133549,AL354941,AL365202,AL603631,CH471071,AI811824,AK289540,AK310956,AW152407,BC022191,BC067778,X76092,NM_134428 CAA53706,P48380,Q5JTM0,Q5JTM1,Q5JTM2,Q5JVQ5,Q5JVQ6,NP_602304,NP_002910,CAI40199,CAI40200,CAI40201,CAI40202,CAI41211,CAI41212,CAI41213,CAI41214,CAI41215,CAI41216,CAI13399,CAI13400,CAI13401,CAI13402,CAI13403,CAI13404,EAW58794,EAW58795,EAW58796,EAW58797,EAW58798,EAW58799,BAF82229,AAH22191,AAH67778 Hs.136829 MGC87155|bA32F11.1 DNA binding protein RFX3|OTTHUMP00000020993|regulatory factor X 3|transcription factor RFX3 protein-coding 1354416 RFX4 regulatory factor X, 4 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. This protein may be a transcriptional repressor rather than a transcriptional activator. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 19328558,18218630,17903297,16271074,15940297,14701801,12925582,12477932,11682486,10706293,8600444,8289803,1603086,16193984,21084426 5992 NM_213594,NM_002920,NM_032491,AC009721,AC079385,CH471054,AB044245,AB095365,AB095366,AB195784,AB195785,AF332192,AI191585,AK074913,AK291445,AK302837,AK315698,AL833921,AY102009,BC028582,BC030644 NP_998759,NP_002911,NP_115880,EAW97782,EAW97783,EAW97784,BAB59001,BAE48231,BAE48232,BAE48237,BAE48238,AAK17191,BAC11288,BAF84134,BAG64029,BAG38061,CAD38777,AAM52484,AAH28582,AAH30644,Q33E94,ABM81757,ABM84912 Hs.388827 NYD-SP10 regulatory factor X 4|regulatory factor X4, isoform c|testis development protein NYD-SP10|transcription factor NYD-sp10|transcription factor RFX4 protein-coding 1323259 RFX5 regulatory factor X, 5 (influences HLA class II expression) A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq] 1580863,1599742,1599743 10072068,9401005,9373149,9190936,9177217,9118943,8125298,7744245,10779326,10079298,11003667,15253423,15210800,12968017,12477932,12368908,11986307,11244040,10825209,20732328,16464847,9806546,18842294,18723135,17611194,16710414,15489334,15964851,19041327 1599742,1599743 5993 NM_001025603,NG_007576,AL391069,CH471121,AK223526,AK302891,AK309072,AK311525,AK312289,NM_000449,AL050135,BC017471,BX423384,CR625881,X85786 NP_000440,NP_001020774,CAH70327,CAM13080,CAM13081,CAM13082,CAO72156,CAO72157,CAO72158,CAO72159,CAO72160,CAO72161,CAO72162,EAW53446,EAW53447,EAW53448,BAD97246,BAH13834,BAG35216,CAB43285,AAH17471,CAA59771,P48382,Q53EW3,Q9UG77,ABM83308,ABM86520 Hs.632472 DNA-binding protein RFX5|OTTHUMP00000081737|OTTHUMP00000082796|OTTHUMP00000196320|OTTHUMP00000196321|regulatory factor X 5 protein-coding 1316716 RFX6 regulatory factor X, 6 RFX6 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1; MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM] 1580863 18673564,16189514,12477932,20676098,20148032 222546 NM_173560,AL355272,CH471051,BC039248,BQ269808,NG_027699,CA842450,CA947154 NP_775831,CAI23444,EAW48212,EAW48213,AAH39248,Q8HWS3 Hs.352276 MGC33442|RFXDC1|dJ955L16.1 DNA-binding protein RFX6|regulatory factor X domain containing 1|regulatory factor X domain-containing protein 1 protein-coding 1603966 RFX7 regulatory factor X, 7 RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM] 18673564,15302935,14702039,12477932,20062064 64864 NM_022841,AC068726,AC084783,CH471082,AK023056,AK024757,AK126103,AK128045,AL832584,AL833367,AL834302,BC112936,BC143438,DW009813 NP_073752,EAW77498,EAW77499,BAB14381,BAB14988,BAC86441,BAC87248,CAD38972,AAI12937,AAI43439,Q2KHR2 Hs.726224 FLJ12994|FLJ21104|MGC131836|RFXDC2 DNA-binding protein RFX7|regulatory factor X domain containing 2|regulatory factor X domain-containing protein 2 protein-coding 2793201 RFX8 regulatory factor X, 8 11181995,14702039,15815621 731220 AC092570,AK124976,AK131289,AK298610,CH471127,NM_001145664 NP_001139136,Q6ZNB4,Q6ZV50,BAC86013,BAD18461,BAG60794,EAX01812,EAX01813 Hs.662488 FLJ16242|FLJ42986|FLJ52890 DNA-binding protein RFX8|regulatory factor X 8|regulatory factor X, 8 protein-coding 1322827 RFXANK regulatory factor X-associated ankyrin-containing protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. [provided by RefSeq] 1599746,1580863 17353931,10072068,9806546,18723135,16166641,15964851,15057824,12618906,12477932,11836625,11463838,11042152,10825209,10803838,10725724,10329666,8889548,11003667,20414676 1599746 8625 NM_003721,NM_134440,NG_007432,AC002126,AC003110,AD000812,CH471106,AF077196,AF094760,AF105427,AF105428,AW411361,BC114558,BC114563,BM682278,CR456981,CR542199,CR617522,CR622780,X75690 NP_003712,NP_604389,AAB86654,EAW84795,EAW84796,EAW84797,EAW84798,EAW84799,AAD26991,AAC69883,AAD17972,AAD17973,AAI14559,AAI14564,CAG33262,CAG46996,O14593,Q24JQ1,Q6IB23 Hs.153629,Hs.296776 ANKRA1|BLS|F14150_1|MGC138628|RFX-B DNA-binding protein RFXANK|RFX-Bdelta4|ankyrin repeat family A protein 1|ankyrin repeat-containing regulatory factor X-associated protein|regulatory factor X subunit B protein-coding 1348538 RFXAP regulatory factor X-associated protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq] 1580863 19274739,20024540,9118943,18723135,18336911,16337482,15781111,15210800,12477932,12136098,11463838,11244040,10825209,10072068,9806639,9287230,8717517,8290561,20732328 5994 NM_000538,NG_007876,AJ327174,AL159973,CH471075,Y12812,AK313912,BC026088,BI823132 NP_000529,CAH71159,EAX08574,EAX08575,CAA73338,BAG36635,AAH26088,O00287,ABM82095,ABM84507,ABM85278 Hs.24422 RFX DNA-binding complex 36 kDa subunit|RFX-associated protein|regulatory factor X-associated protein protein-coding 1314894 RG9MTD1 RNA (guanine-9-) methyltransferase domain containing 1 737633,1580863 19615732,10508479,18984158,12477932,17207965,20877624 737633 54931 NM_017819,AC073861,CH471052,AF086243,AF155111,AF226052,AK000439,AY561707,BC035967,CR592390,CR594278,CR605158,CR606575,CR607864,CR617309,CR621828,CR626199 NP_060289,EAW79795,AAD42877,AAF86952,BAA91166,AAS66980,AAH35967,Q7L0Y3,ADQ32147 FLJ20432|MRPP1 HBV pre-S2 trans-regulated protein 2|NY-REN-49 antigen|OTTHUMP00000214122|RNA (guanine-9-)-methyltransferase domain-containing protein 1|mitochondrial RNase P protein 1|mitochondrial ribonuclease P protein 1|renal carcinoma antigen NY-REN-49 protein-coding 1319496 RG9MTD2 RNA (guanine-9-) methyltransferase domain containing 2 737633,1580863 12477932 737633 93587 NM_001134665,NM_001134666,NM_152292,AC083902,CH471057,AF106046,AK000332,AK313548,AW242551,BC028373,CR598027,CR598836 NP_001128137,NP_001128138,NP_689505,EAX06104,EAX06105,AAD21019,BAG36324,AAH28373,Q8TBZ6 Hs.380412 FLJ20325|MGC27034|TRM10 OTTHUMP00000220442|OTTHUMP00000220443|RNA (guanine-9-)-methyltransferase domain-containing protein 2 protein-coding 1321812 RG9MTD3 RNA (guanine-9-) methyltransferase domain containing 3 737633,1580863 17207965,14702039,12477932 737633 158234 AL138752,AL591470,CH471071,AK056017,AK092718,AK294219,AK295733,AK304516,AK315922,BC012175,BC057774,EC553146,NM_144964 ADQ32960,NP_659401,CAI13881,CAI13882,EAW58265,EAW58266,EAW58267,EAW58268,EAW58269,BAB71074,BAC03957,BAH11702,BAH12169,BAH14204,BAH14293,AAH12175,AAH57774,Q6PF06 Hs.655614 FLJ31455|RP11-3J10.9|bA3J10.9 OTTHUMP00000021393|OTTHUMP00000021394|RNA (guanine-9-)-methyltransferase domain-containing protein 3 protein-coding 1352806 RGAG1 retrotransposon gag domain containing 1 18029348,16093683,15716091,15489334,12477932,10718198 57529 NG_016402,NM_020769,AC000113,CH471120,AB037739,AK302427,AY121804,BC113670,BC117184 NP_065820,EAX02659,BAA92556,BAG63730,AAM82752,AAI13671,AAI17185,Q8NET4 Hs.201071 KIAA1318|MAR9|MART9|MGC142230|Mar9|Mart9 OTTHUMP00000023850|retrotransposon gag domain-containing protein 1|tumor antigen BJ-HCC-23|tumor antigen BJHCC23 protein-coding 1350874 RGAG4 retrotransposon gag domain containing 4 16093683,15772651,15716091,12056414,12477932,16936636 340526 NM_001024455,BX119917,AB082532,AL359579,BC151224,NG_021352 NP_001019626,CAI39851,BAC02710,CAB94872,AAI51225,Q5HYW3 Hs.512180 6430402L03Rik|KIAA2001|MAR5|MART5|Mar5|Mart5 OTTHUMP00000023523|retrotransposon gag domain-containing protein 4 protein-coding 1319015 RGL1 ral guanine nucleotide dissociation stimulator-like 1 1580863 20379614,20936779,10760592,10545207,18951430,15342556,12477932,10231032,20360315 23179 NM_015149,AF186798,AL137800,AL157899,AL590422,AL592299,CH471067,AB023176,AF186779,AF186780,AK295179,AK295611,AK304293,AK311701,AK311716,AK316526,AL080117,BC039250,BC136591,BP235344,BX537416,CR605009 NP_055964,AAG14400,AAG14401,CAH73873,CAH73874,CAI14720,CAI14724,EAW91165,EAW91166,EAW91167,EAW91168,BAA76803,AAF67280,AAF67281,BAH12001,BAH12125,BAH14151,BAH14897,CAB45716,AAI36592,CAD97658,Q7Z3U6,Q9NZL6 Hs.497148 KIAA0959|RGL OTTHUMP00000033268|ral guanine nucleotide dissociation stimulator-like 1|ralGDS-like 1 protein-coding 1347432 RGL2 ral guanine nucleotide dissociation stimulator-like 2 1580863 20936779,9545376,20801877,8976381,18540861,17474147,16344560,16169070,15489334,14702039,12477932,11230166,10079301,9521053,8939933,15031288,19851445 5863 BX248088,BX648015,D85757,DB076334,U68142,NR_028387,AL662820,AL662827,BX000343,CH471081,CR759786,CR759817,Z97184,AB012295,AK095967,AK294442,AL050259,BC000316,BC005037,BC032681,BC040989,NM_004761 AAH40989,BAA75926,AAC50818,O15211,Q4G0R5,Q54AJ0,Q92942,Q9BSI0,Q9BWF0,NP_004752,CAI18118,CAI17521,CAI41832,EAX03708,EAX03709,EAX03710,EAX03711,EAX03712,EAX03713,EAX03714,CAQ08257,CAQ08027,CAB09992,CAC88186,BAA36193,BAG57683,CAB43361,AAH00316,AAH05037,AAH32681 Hs.509622 HKE1.5|KE1.5|RAB2L GDS-related protein|RAB2, member RAS oncogene family-like|ral guanine nucleotide dissociation stimulator-like 2|ralGDS-like 2|ralGDS-like factor|ras-associated protein RAB2L protein-coding 1320262 RGL3 ral guanine nucleotide dissociation stimulator-like 3 737633 16344560,14702039,12477932,19913121,20628086 737633 57139 NM_001035223,NM_001161616,AC024575,CH471106,AK057147,AK096811,AK126263,AK293404,AK298281,BC014426,BC064475,BC101756,BC111958,BC143530,BM992649,DB184397 NP_001030300,NP_001155088,EAW84209,EAW84210,EAW84211,EAW84212,BAG53366,BAG56911,BAG60541,AAH14426,AAI01757,AAI11959,AAI43531,Q3MIN7 Hs.375142,Hs.727645 FLJ00153|FLJ32585|FLJ44275|MGC126805|MGC138163 RalGEF-like protein 3, mouse homolog|ral guanine nucleotide dissociation stimulator-like 3|ralGDS-like 3 protein-coding 1606411 RGL4 ral guanine nucleotide dissociation stimulator-like 4 12874025,12477932,12140761,10851075,10591208,9178890,9154803 266747 NM_153615,AP000347,CH471095,AK131340,AY101396,BC101108,BC101109,BC101110 NP_705843,EAW59594,EAW59595,BAD18497,AAM51551,AAI01109,AAI01110,AAI01111,Q3ZCN2,Q495L7,Q495L8,Q6ZN78,Q8IZJ4 Hs.658997 MGC119678|MGC119680|Rgr OTTHUMP00000198315|OTTHUMP00000198318|Ral-GDS related protein Rgr|RalGDS related oncogene|hRGR|ral-GDS-related protein|ralGDS-like 4 protein-coding 1323724 RGMA RGM domain family, member A 737633 15084667,15258590,16344560,17615080,11256614,19303019,19273616,18367154,17606441,17472960,16381901,16303743,16216939,15489336,15489334,14702039,12477932,11230166,11076863,16169070,18485097,19458235,19698085,20072140 737633 56963 CQ782935,DA183348,DA295545,DA453869,DA512691,DA805034,DC317516,NM_001166283,NM_001166286,NM_001166287,NM_001166288,NM_001166289,NM_020211,AC087641,CH471101,CQ782957,CQ783740,AK074910,AK074966,AK074980,AK125047,AK125204,AK299363,AK309814,AL136826,AL390083,BC015886,BC127826,BC140838,BC151132 AAI46683,NP_064596,EAX02166,EAX02167,CAF86186,CAF86838,BAC11285,BAC11321,BAC11330,BAG54165,BAH13014,CAB66760,CAB98207,AAH15886,AAI27827,AAI40839,AAI51133,Q96B86,CAL37563,CAF86163,NP_001159755,NP_001159758,NP_001159759,NP_001159760,NP_001159761 Hs.271277 RGM repulsive guidance molecule A protein-coding 1350725 RGMB RGM domain family, member B RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM] 21182207,15671031,15489334,14985445,14702039,12477932 285704 AC008522,CH471084,CQ783726,AK054622,AK074887,AK125284,BC020513,BC044231,BC067736,BG251558,BI763873,NM_001012761 NP_001012779,EAW96093,EAW96094,EAW96095,EAW96097,CAF86831,BAC11268,AAH67736,Q69YY3,Q6NW40 Hs.526902 DKFZp434P228|DRAGON|FLJ90406|MGC86970 DRG11-responsive axonal guidance and outgrowth of neurite|OTTHUMP00000222629|RGM domain family member B|repulsive guidance molecule B protein-coding 732128 RGN regucalcin (senescence marker protein-30) The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in two transcript variants having different 5' UTRs, but encoding the same protein. [provided by RefSeq] 15604093,19347872,19690176,19801822,18507831,15962315,15772651,15714273,15502314,15489334,15358188,12619687,12477932,11944989,10677570,10360682,9373149,8125298,7548213,19946731 9104 NM_152869,NM_004683,AL513366,CH471164,AB032064,AK223360,AK290136,BC050371,BC058880,BC073173,D31815,AB028125 NP_690608,NP_004674,CAI41697,EAW59279,BAA78693,BAA84082,BAD97080,BAF82825,AAH50371,AAH73173,BAA06602,Q15493,EAW59280 Hs.77854 RC|SMP30 SMP-30|regucalcin|senescence marker protein 30|senescence marker protein-30 protein-coding 1323378 RGP1 RGP1 retrograde golgi transport homolog (S. cerevisiae) 737633 15489334,12477932,9039502,17207965 737633 9827 NM_001080496,AL133410,AK289566,BC001725,D87447,CH471071 NP_001073965,CAI10984,BAF82255,AAH01725,BAA13388,Q92546,EAW58343,ADQ32168 Hs.641324 KIAA0258 retrograde Golgi transport protein RGP1 homolog protein-coding 1602617 RGPD1 RANBP2-like and GRIP domain containing 1 19913121,20628086,17081983,16344560,15815621,15710750,17643375 400966 AK303443,NM_001024457,AC111200,CR749330,DA725306,DC343949,DC353941,DC378175 BAG64489,NP_001019628,CAH18184,Q68DN6,AAI72352 Hs.640613,Hs.652430,Hs.652481 FLJ58076|RGP1|RGPD2|RanBP2L2 OTTHUMP00000203674|RANBP2-like and GRIP domain-containing protein 1|RANBP2-like and GRIP domain-containing protein 1/2|ran-binding protein 2-like 2/6|ran-binding protein 2-like 6|ranBP2-like 2/6|ranBP2-like 6|ranBP2L6 protein-coding 1605443 RGPD2 RANBP2-like and GRIP domain containing 2 17081983,15815621,15710750 729857 NM_001078170,AC093616,AK300276,AK300352,AY354203,AK302429 NP_001071638,BAG62036,BAG62094,AAQ63888,BAG63732 Hs.652481,Hs.640613 FLJ56975|NUP358|RANBP2L2|RGP2 RANBP2-like and GRIP domain-containing protein 2|Ran binding protein 2-like 2|nucleoporin|ran-binding protein 2-like 2|ranBP2-like 2 protein-coding 1602139 RGPD3 RANBP2-like and GRIP domain containing 3 15815621,15710750 653489 NG_021160,NM_001144013,AC097527,AC114755,AK310529 NP_001137485,A6NKT7 Hs.726367 RGP3 ranBP2-like and GRIP domain-containing protein 3 protein-coding 1602819 RGPD4 RANBP2-like and GRIP domain containing 4 15815621,15710750,19596235 285190 NM_182588,AC009963,AC096655,AK302921,BX537861 NP_872394,BAG64086,CAD97866,Q7Z3J3 Hs.449164 DKFZp686P0288|RGP4 ranBP2-like and GRIP domain-containing protein 4 protein-coding 1601953 RGPD5 RANBP2-like and GRIP domain containing 5 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq] 15815621,15710750,14702039,12905863,11774384,11230166,10101573,9480752,19615732 84220 NM_032260,NM_005054,AC013271,AB209082,AL044843,AL136868,BU631831,CA446006,CR936614,U64675 NP_115636,NP_005045,AAY14902,BAD92319,CAB66802,CAI56757,AAB41848,Q99666,AAI48414 Hs.469630 BS-63|BS63|DKFZp686I1842|RGP5|RGPD6 OTTHUMP00000161612|RANBP2-like and GRIP domain-containing protein 5|RANBP2-like and GRIP domain-containing protein 5/6|RANBP2-like and GRIP domain-containing protein 6|ran-binding protein 2-like 1|ran-binding protein 2-like 1/2|ran-binding protein 2-like 2|ranBP2-like 1|ranBP2-like 1/2|ranBP2-like 2|ranBP2L1|ranBP2L2|sperm membrane protein BS-63 protein-coding 1603061 RGPD6 RANBP2-like and GRIP domain containing 6 15815621,15710750,14702039,9480752,11230166,12477932,18220336,18669648 729540 AC123886,NM_001123363,AC108938,AC109815,AC226101,AK056675,NM_001037866 AAY14839,Q99666,NP_001116835,AAY24132,AAI56283,NP_001032955 Hs.645445 MGC190070|RGP6|RGPD5|RGPD7|RanBP2L1|RanBP2L2 RANBP2-like and GRIP domain-containing protein 5/6|RANBP2-like and GRIP domain-containing protein 7|RANBPL1|ran-binding protein 2-like 1/2|ranBP2-like 1/2|sperm membrane protein BS-63 protein-coding 1602942 RGPD7 RANBP2-like and GRIP domain containing 7 15815621,15710750,11230166,9480752 652919 NM_001037866,AC123886 NP_001032955,AAY14839,Q9H0B2,AAI56283 Hs.712500 RGP7 protein-coding 1601778 RGPD8 RANBP2-like and GRIP domain containing 8 9480752,15710750,12477932 727851 NM_001164463,AC112246,AC115115,AF012086,BC020901,BC037274 NP_001157935,AAC05596,O14715 Hs.469630,Hs.535589 RANBP2L1|RGP8|RanBP2alpha OTTHUMP00000203605|RAN binding protein 2-like 1|RANBP2-like and GRIP domain-containing protein 8|ran-binding protein 2-like 3|ranBP2-like 3|ranBP2L3 protein-coding 1319366 RGR retinal G protein coupled receptor This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863,1599623 16385451,18240029,19450444,10581022,7947717,7789419,20801516,21067480,8641686,16189514,18474598,17679941,16737970,15489334,12843338,12573668,12542842,12477932,11723126,11274198,20591486 1599623 5995 NM_002921,NM_001012720,NM_001012722,NG_009106,AC022389,CH471142,U15790,BC008094,BC011349,BC027987,BC042536,BG912392,BX641033,U14910 NP_002912,NP_001012738,NP_001012740,EAW80354,EAW80355,EAW80356,EAW80357,EAW80358,AAB92384,AAH08094,AAH11349,AAA56748,P47804,Q96HT6,ABM83000,ABM86193 Hs.1544 RP44 RGR-opsin|RPE retinal G-protein coupled receptor|RPE-retinal G protein-coupled receptor protein-coding 735445 RGS1 regulator of G-protein signaling 1 This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq] 69961,1580863 10747990,8241276,10480894,19073967,18805825,18580492,18311140,18301890,16710414,16565322,15728464,15489334,14702039,12477932,11520900,11251075,10760272,9774420,9174164,8602223,8473738,16169070,20555355,19913121,20627871,20628086,20647273,15215290,19693089,19865102,19877080,19879194,20083228,20190752,20468064 69961 5996 NM_002922,AL136987,CH471067,AA962409,AF493925,AK093544,AK303138,AK315607,AL039059,BC015510,BG536972,BT006668,BU783195,X73427 NP_002913,CAC19805,EAW91226,EAW91227,EAW91228,AAM12639,BAG64242,BAG37976,AAH15510,AAP35314,CAA51826,Q08116,ABM81577,ABM84757 Hs.75256 1R20|BL34|IER1|IR20 B-cell activation protein BL34|early response protein 1R20|immediate-early response 1, B-cell specific|regulator of G-protein signaling 1|regulator of G-protein signalling 1 protein-coding 737086 RGS10 regulator of G-protein signaling 10 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15215290,16385451,20468064,21044322,17353931,17881498,16511171,16341674,15482592,12477932,12062898,11955952,11443111,10791963,10747990,10608901,9353196,9207071,8774883,20627871,16712791 6001 NM_002925,AC012468,AL355273,AL592286,CH471066,AF045229,AF368902,AF493934,AI219612,AK290773,AL547312,AV707839,BC009361,NM_001005339,BF685740,BG763741,BM782346,BM914660,CB112318,CB124184,CR457008,CR592645 NP_001005339,NP_002916,CAI16486,CAI16488,EAW49389,EAW49390,EAW49391,AAC03783,AAK52979,AAM12648,BAF83462,AAH09361,CAG33289,O43665 Hs.501200 regulator of G-protein signaling 10|regulator of G-protein signalling 10 protein-coding 1321340 RGS11 regulator of G-protein signaling 11 The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 19497306,20453000,9789084,15616553,14702039,12477932,11829488,11157797,10339615,9315921,20627871 8786 AK293564,AK294448,NM_183337,AC004754,AE006463,CH471112,Z69667,AB016929,AB209582,AF035153,AF035154,AK091701,AK308972,BC040504,NM_003834,BC141803,CR593949 BAH11537,BAH11771,NP_003825,NP_899180,AAK61221,EAW85839,EAW85840,EAW85841,EAW85842,EAW85843,CAI95581,CAI95582,CAI95583,BAA74751,BAD92819,AAC69175,AAC69176,AAH40504,AAI41804,O94810,Q4TT70,Q4TT72,Q59F78,Q8IWC5,AAI48400,AAI53020 Hs.65756 RS11 regulator of G-protein signaling 11|regulator of G-protein signalling 11 protein-coding 731521 RGS12 regulator of G-protein signaling 12 This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq] 9651375,10869340,17042716,15324660,12477932,12461749,12024043,11829488,11771424,11387333,11130074,10911908,9168931,8889548,20627871,17124247,17380122,19851296,20198315 6002 AI870015,AK123325,AK290805,AK293767,AK301510,AK303135,AK308734,AK310999,AL831957,AL832522,AY987042,BC012118,BC028154,BC106944,BC118594,BE048490,BI861043,BM718427,BM984992,CB242608,CB529269,NM_198229,NM_002926,NM_198227,AF030149,AL590235,AL645949,CH471131,AF030109,AF030110,AF030111,AF030112,AF035152,AF464735,AF464736,AF464737 BAG53889,BAF83494,BAH11592,BAH13500,BAH13904,CAH10413,CAH10409,AAY26403,AAH28154,AAI06945,AAI18595,O14924,Q147X0,Q3B858,Q506M0,AAL69961,Q69YN1,Q8WX95,Q8WX96,Q8WX97,AAI67850,Q56A82,NP_937872,NP_002917,NP_937870,AAB96644,AAB96645,AAB96646,CAM21452,CAM21453,CAM21454,EAW82465,EAW82466,EAW82467,EAW82468,EAW82469,EAW82470,EAW82471,EAW82472,AAB84186,AAB84007,AAB84114,AAB84187,AAC39835,AAL69959,AAL69960,CAM17750,CAM17751,CAM17752 Hs.527061 DKFZp761K1617|DKFZp761K1817 regulator of G-protein signaling 12|regulator of G-protein signalling 12 protein-coding 1604849 RGS13 regulator of G-protein signaling 13 The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. [provided by RefSeq] 20627871,20468064,19017978,16710414,16565322,15489334,12970790,12477932,11875076,11829488,8602223 6003 NM_002927,NM_144766,AL136454,AL596119,CH471067,AF030107,AF493935,AY562947,BC016667,BC036950,BC056866,BT006929,CR536532,CR599001,CR610389,BU942880 NP_002918,NP_658912,CAI17062,CAH71773,EAW91229,EAW91230,AAB84000,AAM12649,AAS66360,AAH16667,AAH56866,AAP35575,CAG38769,O14921,ABM92258,ABM92259,ABM84747,ABW03620 Hs.497220 MGC17173 regulator of G-protein signaling 13|regulator of G-protein signalling 13 protein-coding 733515 RGS14 regulator of G-protein signaling 14 This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 20627871,9168931,16189514,15917656,15525537,15489334,14702039,12534294,12477932,11976690,11829488,11387333,10953050,10926822,19636837,19878719,20383146 10636 NM_006480,AC146507,CH471195,AF037194,AF037195,AF493936,AI623584,AK098150,AK123382,AY987041,BC014094,BI752372,CR607607 NP_006471,EAW85011,EAW85012,EAW85013,AAB92613,AAB92614,AAM12650,BAG53582,BAC85600,AAY26402,O43566,AAH14094 Hs.9347 OTTHUMP00000223587|regulator of G-protein signaling 14|regulator of G-protein signalling 14 protein-coding 1343291 RGS16 regulator of G-protein signaling 16 The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq] 1580863 20627871,15215290,18521847,19509421,19760045,10747990,9469939,18262772,17635928,17613536,17347170,16344560,15998835,15489334,14634662,12642593,12642592,12588871,12477932,11602604,11522288,10878019,10836135,10791963,10760272,10373502,10072511,9271201,9223279,9079700,8917514,20571966 6004 NM_002928,AF009356,AL353778,CH471067,AF493937,AK301261,AK311880,AW193671,BC006243,BT006638,DA060276,DC349953,U70426,U94829,HI574082 NP_002919,AAC39642,CAH72419,EAW91129,AAM12651,BAG62827,BAG34821,AAH06243,AAP35284,AAC16912,AAC52040,O15492,CBX47530 Hs.413297 A28-RGS14|A28-RGS14P|RGS-R hRGS-r|regulator of G-protein signaling 16|regulator of G-protein signalling 16|retinal-specific RGS|retinally abundant regulator of G-protein signaling protein-coding 1313587 RGS17 regulator of G-protein signaling 17 This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq] 1580863 21044322,19351763,19244110,18676680,15489334,15096504,14992813,14574404,12826607,12477932,11829488,10419452,20420807,19170196,19625176,19692168,20306291,20379614,20453000 26575 NM_012419,AL080276,AL356787,AL356963,CH471051,CS300704,AA902430,AF202257,AF493938,BC013117,BT006997,CK902282 NP_036551,CAI18900,EAW47711,CAK32368,AAF08978,AAM12652,AAH13117,AAP35643,Q9UGC6 Hs.166313 RGS-17|RGSZ2|hRGS17 OTTHUMP00000017460|regulator of G-protein signaling 17 protein-coding 1315187 RGS18 regulator of G-protein signaling 18 This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 1580863 20627871,16710414,16484797,15489334,14992813,14702039,12665801,12477932,11955952,11829488,11563974,11342430,11042171,20379614,20468064 64407 NM_130782,AL513175,AL596342,CH471067,CS300612,AF076642,AF268036,AK057114,AK292015,AK315377,AV715708,BC020632,CR602825 NP_570138,CAH70529,CAH71160,EAW91223,CAK32276,AAF80227,AAK58589,BAG51866,BAF84704,BAG37770,AAH20632,Q9NS28,ABM82319,ABM85495 Hs.440890 RGS13 regulator of G-protein signaling 18|regulator of G-protein signalling 13|regulator of G-protein signalling 18 protein-coding 1353904 RGS19 regulator of G-protein signaling 19 G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq] 1580863 9770488,8524874,9571244,18360038,15761153,15489334,15356268,12826607,12507475,12477932,11956658,11829488,11780052,11251075,11090272,10993892,10760275,10760272,10452897,10364213,10359779,9748280,9305927,8986788,10906137,14617818,20468064 10287 NM_001039467,NM_005873,AF217688,AL590548,CH471077,AF285097,AF493939,AK290081,AK298240,AY585188,BC001318,BC054337,BC063010,BM554550,BT009804,CR457430,CR591868,CR591957,CR592870,CR595472,CR606250,CR613987,X91809 NP_001034556,NP_005864,AAG42352,CAD11902,EAW75166,EAW75167,AAM12653,BAF82770,BAG60506,AAS94232,AAH01318,AAH54337,AAH63010,AAP88806,CAG33711,CAA62919,P49795,Q6I9S5,Q9H2T9,ABM82130,ABM85313 Hs.422336 GAIP|RGSGAIP G alpha interacting protein|G protein signalling regulator 19|G-alpha-interacting protein|guanine nucleotide binding protein alpha inhibiting activity polypeptide 3 interacting protein|regulator of G-protein signaling 19|regulator of G-protein signalling 19 protein-coding 732360 RGS2 regulator of G-protein signaling 2, 24kDa Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq] 1580863 20375904,20847599,20981351,21041608,11330340,17143182,16895908,16736243,16710414,16691626,16685212,16627589,16449965,16432041,16189514,16169070,16003176,15917235,15793568,15609325,15536149,15489334,15383626,15375002,15362969,15292363,14608379,12885252,12604604,12564955,12477932,12356577,12176127,10747990,19427970,19243996,19175184,19162436,19156702,19155782,19064631,19023274,18833580,18663369,18496125,18398336,18360038,18347610,18316676,18262772,18249218,18230714,18067675,17901199,17728697,17558307,17294519,17244887,17220356,11063746,10982407,10791963,10760272,10072511,9794454,9405622,9174164,8673468,8602223,8179820,7643615,1702972,9079700,17353931,11278586,20633139,19913121,20627871,20628086,20628624,20662725,19478087,19626040,19778949,19813112,19931593,19948975,20032508,20140863,20453000,20468064,20001967,20403096 5997 NG_012800,NM_002923,AL035407,CH471067,L13391,AF493926,AK313668,AY971351,BC007049,BC042755,BC044742,BI912389,BT007065,CD700013,CR457410,CR595811,CR598258,CR619003,L13463 NP_002914,CAB62512,EAW91231,EAW91232,AAA20680,AAM12640,BAG36420,AAY40361,AAH07049,AAH42755,AAP35728,CAG33691,AAC37587,P41220,Q49A86,ABM84104,ABM87477 Hs.78944 G0S8 G0 to G1 switch regulatory 8, 24kD|G0/G1 switch regulatory protein 8|cell growth-inhibiting gene 31 protein|cell growth-inhibiting protein 31|regulator of G-protein signaling 2|regulator of g-protein signaling protein 2 protein-coding 1312560 RGS20 regulator of G-protein signaling 20 Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM] 1580863 15488169,17474147,18407463,9748279,17353931,18360038,17126529,15489334,14872136,14702039,12826607,12477932,12414994,12379657,11882662,11829488,11735229,9748280,20627871 8601 NM_170587,NM_003702,AC100821,AC113194,CH471068,AF060877,AF074979,AF366054,AF366055,AF366056,AF366057,AF493940,AK094503,AY046538,BC015614,BC018618,BC031328,BC063490,CR594448,CR602987,CR622266 NP_733466,NP_003693,EAW86734,EAW86735,EAW86736,EAW86737,EAW86738,AAC62009,AAC62013,AAK54122,AAK54123,AAK54124,AAK54125,AAM12654,BAG52876,AAL03971,AAH15614,AAH63490,O76081,ADR82691 Hs.726513 RGSZ1|ZGAP1 g(z)GAP|gz-GAP|gz-selective GTPase-activating protein|regulator of G-protein signaling 20|regulator of G-protein signaling Z1|regulator of G-protein signalling 20|regulator of Gz-selective protein signaling 1 protein-coding 1353958 RGS21 regulator of G-protein signaling 21 Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM] 16302027,15066150 431704 AL357566,AL390957,AY643711,NM_001039152 NP_001034241,AAT64913,Q2M5E4,AAI48463,AAI53060 Hs.558673 regulator of G-protein signaling 21|regulator of G-protein signalling 21 protein-coding 1606803 RGS22 regulator of G-protein signaling 22 18703424,15489334,14702039,12477932,20627871,20379614 26166 NM_015668,AC021590,AP005356,CH471060,AK302475,AK309194,AL117544,AY009106,BC036665,BC047060,BC050053,BC092411,AK097399,AK292559 NP_056483,EAW91794,EAW91795,EAW91796,BAF85248,BAG63763,CAB55986,AAG49397,AAH36665,AAH47060,AAH92411,Q8NE09,Q9BYZ4,BAG53465,EAW91797 Hs.120021 DKFZp434I092|FLJ40080|FLJ75004|MGC102908|PRTD-NY2 regulator of G-protein signaling 22 protein-coding 731031 RGS3 regulator of G-protein signaling 3 This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTP-ase activating protein which inhibits G-protein mediated signal transduction. The protein is largely cytosolic, but G-protein activation leads to translocation of this protein to the plasma membrane. A nuclear form of this protein has also been described, but its sequence has not been identified. Multiple alternatively spliced transcript variants have been described for this gene but the full-length nature of some transcripts is not yet known. [provided by RefSeq] 69961,1580863 10862767,12198596,15231748,15458844,16637659,16884686,19333232,19778949,12210723,12036301,11985497,11330340,11301003,11294858,11034339,10749886,9373149,9344672,8125298,9858594,8602223,18287247,17300916,16855219,16821082,15489334,15383626,15164053,14702039,12477932,20347994,19913121,20627871,20628086 69961 5998 NM_144488,NM_017790,NM_130795,NM_134427,NM_021106,NM_144489,AF006610,AL137066,AL162727,AL359455,CH471090,AF006609,AF463495,AF490838,AF490839,AF490840,AF493927,AF493941,AK000377,AK054584,AK074977,AK096840,AK123387,AK125059,AK125094,AK128127,AK222888,AK226153,AK289666,AK301515,AK310705,AY585192,BC018072,BC019039,BC042555,CR605994,CR616828,CR618862,U27655 NP_652759,NP_060260,NP_570613,NP_602299,NP_066929,NP_652760,CAH70102,CAH70103,CAC78977,CAH70841,CAH70842,CAH70843,CAH73877,CAH73878,CAH73879,CAH73880,EAW87387,EAW87388,EAW87389,EAW87390,EAW87391,EAW87392,EAW87393,EAW87394,EAW87395,EAW87396,EAW87397,EAW87398,AAB62725,AAL68829,AAM33253,AAM33254,AAM33255,AAM12641,AAM12655,BAB70766,BAC11328,BAG53374,BAG53899,BAG54130,BAC86049,BAA91125,BAC87285,BAD96608,BAF82355,BAG63021,AAT79495,AAH18072,AAH19039,AAH42555,AAC50394,P49796,Q53GP3,Q5VXC0,Q5VZ06,Q6ZV17,Q8NFN6,Q8WV02,Q8WVE9,Q96NV5,Q9NX91 Hs.494875 C2PA|FLJ20370|FLJ31516|FLJ90496|PDZ-RGS3|RGP3 OTTHUMP00000022812|OTTHUMP00000215341|OTTHUMP00000215342|regulator of G-protein signaling 3|regulator of G-protein signalling 3 protein-coding 70082 RGS4 regulator of G-protein signaling 4 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 69961,1580863 17006672,16905560,16904822,16860780,16791139,16710414,16631129,16604300,16526029,16508931,16380905,16344560,16246308,16176390,16082709,15660667,15489334,15383626,15381923,15369705,15274033,15182322,14755443,14732600,14702039,12920194,12840049,12642592,12564955,12477932,12436019,12422374,12023979,11904384,11507164,11428836,11297424,11148035,10982407,10869340,10791963,10784452,10767329,10685342,10608901,10387017,9754621,9748280,9674973,9660808,9576926,9405622,8756726,14634662,10747990,8602223,19367581,19324084,19282471,19201815,19041089,18834502,18804346,18622782,18584117,18470533,18443239,18434012,18262772,18204343,18198266,18031991,17722013,17707117,17588543,17515439,17410640,17408693,17301167,17220356,17106420,17092693,17055463,20712983,21041608,19913121,20627871,20628086,20630860,18583979,19059885,19416973,19536175,19549919,19937977,20414142,20430014 69961 5999 NM_001102445,NM_005613,NM_001113380,NM_001113381,AL583850,CH471067,AB209019,AF493928,AK093959,AK096204,AK295540,AK296240,AK300832,AK312250,AL137433,BC000737,BC051869,BI547160,BT007025,CR612216,DA253378,DA660018,DA660695,DC318279,DC334933,DQ346662,DQ346663,DQ346664,EF054877,U27768,NG_023312 NP_005604,NP_001095915,NP_001106851,NP_001106852,CAH73766,CAH73767,CAH73768,EAW90727,EAW90728,EAW90729,BAD92256,AAM12642,BAG58449,BAG58958,BAG62483,BAG35182,AAH00737,AAH51869,AAP35671,ABC94590,ABC94591,ABC94592,ABL74968,AAC50395,P49798,Q59GU0 Hs.386726 DKFZp761F1924|MGC2124|MGC60244|RGP4|SCZD9 regulator of G-protein signaling 4|regulator of G-protein signalling 4|regulator of g protein signaling 4|schizophrenia disorder 9 protein-coding 730866 RGS5 regulator of G-protein signaling 5 The regulator of G protein signaling (RGS) proteins are signal transduction molecules that have structural homology to SST2 of Saccharomyces cerevisiae and EGL-10 of Caenorhabditis elegans. Multiple genes homologous to SST2 are present in higher eukaryotes. RGS proteins are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators.[supplied by OMIM] 1580863 10471929,18029348,18676680,18262772,17939118,17762159,17220356,17100651,16710414,16381901,16344560,16293795,15670159,15489336,15489334,15459006,14755443,12477932,11253162,11230166,11076863,11009569,9747037,9079700,20627871,20643937,19170196,19488044,19536175,19564336,19625176,19692168,19863299,20379614,20453000 8490 NM_001195303,AL451063,AL499616,AL583850,CH471067,AA486366,AA974387,AB008109,AF030108,AF113212,AF159570,AF172821,AF173551,AF176919,AF493929,NM_003617,AJ891044,AK026775,AK315357,AL157502,AL600981,AU130764,BC029357,BC030059,BU187973,BX537427,CR597576,CR600297,CR609141,CR611218,CR613029,CR615447,CR617436,CR619141,CR625895,NG_027731 NP_001182232,NP_003608,CAH71851,CAI15095,CAH73764,EAW90730,EAW90731,EAW90732,BAA22889,AAB84001,AAG39283,AAD40957,AAQ13615,AAQ13619,AAQ13663,AAM12643,CAI76926,BAG37752,AAH30059,CAD97669,O15539,Q599J0,Q7LCP5,Q9H3F2,CAL38745,ABM83064,ABM86258,CAI15096 Hs.24950 MST092|MST106|MST129|MSTP032|MSTP092|MSTP106|MSTP129 regulator of G-protein signaling 5|regulator of G-protein signalling 5 protein-coding 736970 RGS6 regulator of G-protein signaling 6 Members of the RGS (regulator of G protein signaling) family, such as RGS6, modulate G protein function by activating the intrinsic GTPase activity of the alpha (guanine nucleotide-binding) subunits (Seki et al., 1999 [PubMed 10083744]).[supplied by OMIM] 1580863 19170196,19625176,19692168,19834535,20379614,20453000,10083744,18676680,16691626,15375002,14734556,14702039,12761221,12761220,12477932,12140291,10521509,10339615,7596406,20811658 9628 CH471061,AC004828,AC005157,AC005226,AC005227,AC005477,AC005533,AC005857,AC005993,AF465726,AF465727,NM_004296,AB209462,AF073920,AF073921,AF107619,AF107620,AF156932,AK125540,AK310463,AK313481,AY309097,AY309098,AY309099,AY309100,BC104877,BC113572,BC143699,BX537512,DC343081,L40394,AK294486,AK294895,AK302319 Q7Z4K5,NP_004287,AAC83180,AAD05031,AAM03004,AAM03005,AAM03006,AAM03007,AAM03008,AAM03013,AAM03009,AAM03010,AAM03011,AAM03012,EAW81063,EAW81064,EAW81065,EAW81066,EAW81067,EAW81068,EAW81069,EAW81070,EAW81071,BAD92699,AAC26049,AAC26050,AAD34717,AAD34718,AAD40183,BAG36265,AAP74386,AAP74387,AAP74388,AAP74389,AAI04878,AAI13573,AAC42001,P49758,Q2M3K2,Q59FJ8,Q7Z4K3,Q7Z4K4,EAW81062,BAH11786,BAH11917,BAH13671,Q7Z4K6,ADR83192 Hs.509872 DKFZp313G1241|FLJ43552|GAP|MGC142132 G protein signaling 6 regulator|GTPase activating protein|H_DJ0283M22.1|H_DJ1108A12.1|S914|WUGSC:H_DJ0283M22.1|WUGSC:H_DJ1108A12.1|regulator of G protein signaling 6|regulator of G protein signalling 6|regulator of G-protein signaling 6|regulator of G-protein signalling 6 protein-coding 733586 RGS7 regulator of G-protein signaling 7 69958,1580863 19182865,19626040,20379614,17474147,19376773,18762858,18029348,16867977,16710414,16344560,15496508,14718574,12670932,12659861,12477932,12077120,11152459,11032900,10862767,10521509,10339615,10339594,10092682,10051672,9572280,8548815,19913121,20627871,20628086 69958 6000 AL359764,AL365184,AL512307,AL590682,AL592076,AL596082,CH471098,AF090116,AF090117,AF493930,AF493931,AK294234,NM_002924,AK294354,AK314862,AY587875,BC022009,CR614351,DA605226,DB542821,U32439 NP_002915,CAI15140,CAI16824,CAH71987,CAH71988,CAH73810,EAW70086,EAW70087,EAW70088,EAW70089,AAD34290,AAD34291,AAM12644,AAM12645,BAH11709,BAH11743,AAT52231,AAH22009,AAC50351,P49802,Q5T3H5,ABM81720,ABM84875,ABM84880,CAI16818 Hs.655739 OTTHUMP00000037994|OTTHUMP00000037995|OTTHUMP00000037996|OTTHUMP00000038316|regulator of G-protein signaling 7|regulator of G-protein signaling RGS7|regulator of G-protein signalling 7 protein-coding 1604905 RGS7BP regulator of G-protein signaling 7 binding protein 16867977,15632198,12477932,19497306,20379614 401190 NM_001029875,AC008854,AC035143,AC091862,CH471137,AK294808,AK296443,AK296494,BC140707,BX640900 NP_001025046,EAW51372,BAG57927,BAH12357,BAG59129,AAI40708,CAE45947,Q6MZT1 Hs.657133 R7BP R7 binding protein|R7 family-binding protein|regulator of G-protein signaling 7-binding protein|regulator of G-protein signalling 7 binding protein protein-coding 737105 RGS8 regulator of G-protein signaling 8 This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq] 1580863 18834863,18262772,16710414,15677457,15506959,15489334,15488175,14992813,14675160,12477932,12110731,11829488,11329013,11318611,20627871,17207965,20379614 85397 BC069677,BC069718,BC103865,BC103866,BC103867,BG195915,BX281622,NM_033345,NM_001102450,AL353778,CH471067,AF297014,AF297015,AF300649,AK294660,AK296514 AAH69677,AAH69718,AAI03866,AAI03867,AAI03868,P57771,BAG59146,NP_203131,NP_001095920,CAH72421,EAW91130,EAW91131,AAG45337,AAG18443,BAG57830,ADQ32868 Hs.20982,Hs.458417 MGC119067|MGC119068|MGC119069 OTTHUMP00000033156|OTTHUMP00000217396|regulator of G-protein signaling 8|regulator of G-protein signalling 8 protein-coding 732260 RGS9 regulator of G-protein signaling 9 Members of the RGS family, such as RGS9, are signaling proteins that suppress the activity of G proteins by promoting their deactivation.[supplied by OMIM] 69964,1580863,1599999 9765512,19156168,18548510,17698770,15901556,15474482,14702087,14614075,12477932,12119397,11485301,10564809,9560279,8889548,20477943,19818506,19948975,20016399,20379614,20627871 69964,1599999 8787 AC015821,AC060771,AF178070,AF178072,CH471099,AF071476,AF073710,AF493932,AF493933,AK289876,AK290535,AK301719,AK309061,AY585190,AY585191,BC022504,BC096843,BC117271,CD105605,CK300804,CR613211,NM_003835,NM_001081955,DC322215,NG_013021,NM_001165933 NP_001075424,AAG09311,AAG09312,EAW88997,EAW88998,EAW88999,EAW89000,EAW89001,EAW89002,AAC64040,AAC25430,AAM12646,AAM12647,BAF82565,BAF83224,BAG63190,AAT79493,AAT79494,AAH22504,AAH96843,O75916,Q4G1B2,Q4QRI4,NP_003826,NP_001159405 Hs.664380 MGC111763|MGC26458|PERRS|RGS9L regulator of G-protein signaling 9|regulator of G-protein signalling 9 protein-coding 1601793 RGS9BP regulator of G protein signaling 9 binding protein 18318613,17698770,14702087,12560335,12119397,8889548,19818506,19948975 388531 NM_207391,AC008474,AF086461,AK124499,AK127646,NG_016751 NP_997274,BAC85865,BAC87072,Q6ZS82,AAI72343 Hs.528491 FLJ45744|PERRS|R9AP|RGS9 RGS9 anchor protein|RGS9-anchoring protein|regulator of G-protein signaling 9-binding protein protein-coding 1353178 RGSL1 regulator of G-protein signaling like 1 1302836 18521847,16710414,16344560,15489334,14702039,12801632,12651916,12477932,11230166,11181995,20574532 1302836 353299 NM_001137669,AL138776,AL139344,CH471067,AF508902,AF510428,AK128152,AK302768,AL136902,BC121032,BC121033,BC142944,DB097250 NP_001131141,EAW91125,EAW91126,EAW91127,AAP30864,BAC87300,BAH13800,CAB66836,AAI42945,A5PLK6 Hs.121200 DKFZp434E169|RGSL|RGSL2 regulator of G-protein signaling like 2|regulator of G-protein signaling protein-like protein-coding 1353853 RGSL2 regulator of G-protein signaling like 2 1302836,1580863 12801632,12651916,11230166 1302836 84227 NM_032267,AL139344,CH471067,AL136902,DB452397 NP_115643,EAW91125,EAW91126,EAW91127,CAB66836,Q9H084 Hs.558567 DKFZp434E169 protein-coding 731598 RHAG Rh-associated glycoprotein The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome. 1599622,1580863 9454778,9442063,8563755,3146980,15856280,15929723,12846905,12719424,16580865,16574458,1417776,11062476,19273840,18931342,17712059,16564724,16563829,16378686,16227429,15572441,14966114,12531814,12477932,12393442,12204676,12130520,11861637,10862620,10467273,9915949,9746795,9716608,9479501,9473510,16866382 1599622 6005 NM_000324,NG_011704,AB036993,AF031550,AF031551,AF061325,AF178842,AF178843,AF178844,AF179683,AF179686,AF237387,AL121950,AL590244,CH471081,AF031548,AF031549,AF178841,AF179682,AF179684,AF179685,AF187847,AK313505,BC012605,BU664154,CR592572,CR621033,X64594 NP_000315,BAB00642,AAC04250,AAC04249,AAD34199,AAD56366,AAD56367,AAD56368,AAF23098,AAF23101,AAF78209,CAC10519,CAI13085,EAX04337,EAX04338,EAX04339,AAC04247,AAC04248,AAD54392,AAF23097,AAF23099,AAF23100,AAF04566,BAG36285,AAH12605,CAA45883,O43515,Q02094,Q96E98,Q9UBB8,Q9UHG8,Q9UHG9,Q9UHH0,Q9UHH1,Q9UHH2,Q9UK68,Q9UK69,Q9UK70,Q9UL98,Q9UP76,ABM83708,ABM87029 Hs.120950 CD241|RH2|RH50A|Rh50|Rh50GP|SLC42A1 Rhesus associated polypeptide, 50-KD|Rhesus blood group-associated glycoprotein|ammonium transporter Rh type A|erythrocyte membrane glycoprotein Rh50|erythrocyte plasma membrane 50 kDa glycoprotein|rh family type A glycoprotein|rh type A glycoprotein|rhesus blood group family type A glycoprotein|rhesus blood group-associated a glycoprotein|rhesus blood group-associated ammonia channel protein-coding 1601951 RHBDD1 rhomboid domain containing 1 12838346,12477932,18953687,17903307,15815621,15489334,14702039,16344560 84236 AC010735,AC073149,CH471063,AK026955,AK074258,AK093986,AL512717,AL832364,AY640233,BC015553,BC027900,BC062636,NM_032276,BC071679,BC089404,BC101262,BC101263,BC101264,BC101265,BC111056,CA434330,DB024396,NM_001167608,CR594153 NP_115652,AAY24060,EAW70841,EAW70842,BAB85031,CAC21658,AAU14246,AAH27900,AAH62636,AAH89404,AAI01263,AAI01264,AAI01265,AAI01266,AAI11057,Q8TEB9,NP_001161080 Hs.471514 DKFZp547E052|MGC117258 rhomboid domain-containing protein 1 protein-coding 1317887 RHBDD2 rhomboid domain containing 2 16344560,15489334,14702039,12853948,12838346,12477932,9847074,19616622 57414 NM_001040456,AC005067,CH471220,AF226732,AK026590,BC006234,BC069017,BG707286,CR590707,CR591432,CR599872,CR600296,CR602396,CR603596,CR604000,CR605627,NM_001040457,CR610119,CR609399,CR611490,CR612858,CR613112,CR620747,CR624338,DB050147 NP_001035547,NP_001035546,AAD45959,AAD45960,EAW71773,EAW71774,EAW71775,EAW71776,AAG09733,BAB15503,AAH06234,AAH69017,Q6NTF9,Q9HBK7,Q9UDT1 Hs.488827 NPD007|RHBDL7 H_RG122E10.2a|H_RG122E10.2b|OTTHUMP00000209882|WUGSC:H_RG122E10.2a|WUGSC:H_RG122E10.2b|rhomboid domain-containing protein 2|rhomboid, veinlet-like 7|rhomboid, veinlet-like 7 (drosophila) protein-coding 1323487 RHBDD3 rhomboid domain containing 3 19212622,17117413,15489334,15461802,15105437,12529303,12477932,10591208 25807 NM_012265,AL031186,CH471095,AL050346,BC002705,BC018872,CR456411,CR457382,CR592918,CR593733,CR594348,CR606788 NP_036397,CAI18000,CAQ10930,CAQ10931,EAW59778,EAW59779,CAB43551,AAH02705,CAG30297,CAG33663,Q9Y3P4,CAK54402,CAK54701 Hs.106730 C22orf3|HS984G1A|PTAG pituitary tumor apoptosis|rhomboid domain-containing protein 3 protein-coding 1312890 RHBDF1 rhomboid 5 homolog 1 (Drosophila) 20379614,18832597,18524845,16341674,15965977,14702039,12477932,11157797,9373149,9054936,8318735,8125298,20970119 64285 AE006462,CH471112,CQ798836,DQ431198,Z69719,AK026010,AK056708,AK225408,AK291177,AK304797,AK304812,AK309097,BC014425,BM830007,M99624,NM_022450 CAI95609,CAM26658,CAX15112,AAA02490,Q04842,NP_071895,AAK61212,EAW85873,EAW85874,EAW85875,EAW85876,CAG27587,ABD95905,CAI95607,CAI95608,BAB15318,BAG51794,BAF83866,BAG65547,BAG65562,AAH14425,Q96CC6 Hs.57988 C16orf8|Dist1|EGFR-RS|FLJ2235|FLJ22357|gene-89|gene-90|hDist1 epidermal growth factor receptor, related sequence|p100hRho|rhomboid family 1|rhomboid family 1 (drosophila)|rhomboid family member 1 protein-coding 1320182 RHBDF2 rhomboid 5 homolog 2 (Drosophila) 15342556,15060002,14702039,12838346,12477932,9373149,8125298,10737800,19913121,20628086 79651 AK292166,AL833680,AY500247,BC016034,BC035829,BE076010,BM801831,BP288209,BP284970,DC348660,NM_024599,NM_001005498,AC015802,CH471099,AK025994,AK057882,AK074034,AK225684,AK292135,DC337840,AK303434 BAF84855,AAS77567,AAH16034,AAH35829,Q6PJF5,Q6ZWP8,NP_078875,NP_001005498,EAW89401,EAW89402,EAW89403,EAW89404,BAB15310,BAB84860,BAF84824,BAH13960 Hs.464157 FLJ22341|RHBDL5|RHBDL6 rhomboid family member 2|rhomboid veinlet-like 5|rhomboid veinlet-like protein 5|rhomboid veinlet-like protein 6|rhomboid, veinlet-like 6|rhomboid, veinlet-like 6 (drosophila)|rhomboid-like protein 6 protein-coding 1347230 RHBDL1 rhomboid, veinlet-like 1 (Drosophila) 633866,1580863 9662444,15489334,12477932,11157797 633866 9028 NM_003961,AE006464,CH471112,Z92544,AJ272344,AK294136,BC120874,BC120875,Y17108 NP_003952,AAK61241,EAW85760,EAW85761,EAW85762,CAM26349,CAM26350,CAC00640,BAG57464,AAI20875,AAI20876,CAA76629,O75783 Hs.137572 RHBDL|RRP rhomboid, drosophila, homolog of|rhomboid-like protein 1|rhomboid-related protein 1 protein-coding 1317987 RHBDL2 rhomboid, veinlet-like 2 (Drosophila) The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. [provided by RefSeq] 1580863 19850051,20080650,16710414,15489334,15047175,14702039,12820957,12477932,11672525 54933 AL139260,AL714019,CH471059,AK097621,AK294115,AW080436,AY126343,BC013103,BC137108,BC137110,BC144476,BC144477,BE876592,BX951305,NM_017821 NP_060291,CAI23052,EAX07288,BAG53496,BAH11675,AAM95697,AAH13103,AAI37109,AAI37111,Q9NX52 Hs.524626 MGC16997|RRP2 OTTHUMP00000000546|rhomboid (veinlet, Drosophila)-like 2|rhomboid protease 2|rhomboid-like protein 2|rhomboid-related protein 2 protein-coding 1352464 RHBDL3 rhomboid, veinlet-like 3 (Drosophila) 15489334,12477932,11900977 162494 NM_138328,AC005899,AC026620,CH471147,AJ313480,AK124570,AK127490,BC016953,BC100975,BC100976,BC100977,BC100978,BX647302 NP_612201,EAW80239,EAW80240,EAW80241,CAC86145,BAG54052,AAI00976,AAI00977,AAI00978,AAI00979,P58872,Q495Y4,Q495Y5 Hs.655027 FLJ45582|MGC119300|MGC119301|RHBDL4|VRHO rhomboid, veinlet-like 4|rhomboid-related protein 3|ventrhoid transmembrane protein protein-coding 1351825 RHBG Rh family, B glycoprotein (gene/pseudogene) This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Two alternatively splice transcript variants have been described for this gene. [provided by RefSeq] 1580863 19429772,18032481,18635543,15929723,15611082,12595489,11024028,19357182,16710414,16227429,15489334,15284342,14702039,12477932,11358367,10852913,19913121,20628086 57127 AK294641,AK303799,AK303814,AK308556,AY139092,AY139093,BC065218,NM_020407,AF219980,AL139130,AL589685,CH471121,AF193807,AK054780,AK290840,NR_026549 BAF83529,BAH11830,BAH14054,BAH14058,AAN34363,AAN34364,NP_065140,AAL05978,CAI12177,CAI12178,CAI12179,CAI12180,CAI14174,CAI14175,CAI14176,CAI14177,EAW52959,EAW52960,EAW52961,EAW52962,EAW52963,AAG01086,BAG51423,AAH65218,Q5SZW5,Q9H310 Hs.131835 SLC42A2 OTTHUMP00000025727|Rh type B glycoprotein|Rhesus blood group, B glycoprotein|ammonium transporter Rh type B|rh family type B glycoprotein|rhesus blood group family type B glycoprotein protein-coding 1604848 RHCE Rh blood group, CcEe antigens The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq] 19951310,19076333,19207167,19453979,19453980,20233350,20932075,11380456,11161244,10938938,10924335,10627438,9657769,9087447,8900235,8889548,8822955,8808597,8220426,8188244,8117271,7916743,7789951,3146980,3135863,2123099,2045679,1907207,1900257,1898705,1696722,1379850,1438298,19170983,18460195,18382999,17900276,17298125,17140342,17080665,16722361,16686844,16584906,16563829,15783300,15373666,15023184,14996199,14996197,12857961,12477932,12393640,12201845,12084172,11902138,11861637,11724987,11493738,11436564,19913121,20628086 6006 GU474431,GU563377,DQ451877,S70456,U66340,Z97333,AB018644,AB018645,AB030388,AB049753,AF056965,AF510065,AF510066,AF510067,AF510068,AM295506,AY603478,BC075081,BC139905,BM684087,DQ178642,DQ266353,DQ266400,DQ322275,M34015,S57967,X54534,X63095,X63096,X63098,AM072761,AM072960,AM182448,AM182449,AM183925,AM183927,AM260938,BN000065,CH471134,NM_138617,NM_138618,NM_020485,NG_003255,NG_009208,AB016499,AB016502,AF056966,AF056967,AF390114,AJ276017,AJ295346,AJ504793,AJ867774,AL031284,AL928711,NM_138616 ADB95952,ADD62791,ABE77176,AAD14061,AAB39601,CAB10169,BAA33927,BAA33928,BAA82627,BAB16597,AAC18092,AAN75121,AAN75122,AAN75123,AAN75124,CAL29656,AAT35811,AAH75081,AAI39906,EAW95167,ABA25912,ABB97471,ABB69097,AAA36567,AAB26080,CAA38401,CAA44809,CAA44810,CAA44812,O43811,P18577,P78522,Q0KHB9,Q1EL80,Q1KT13,Q2A683,Q2A685,Q2MCP1,Q2MCP2,Q2YHU7,Q5NDM6,Q5VSJ7,Q5VSJ8,Q5VSJ9,Q6ZSC4,ABC55358,Q8NDV4,Q8NFY0,Q96KU1,Q96QG8,Q9UEC6,Q9UEC7,Q9UP89,Q9UP90,Q9UP91,CAJ27264,CAJ26347,CAJ58683,CAJ58684,CAJ75454,CAJ75456,CAJ98536,CAD29850,EAW95162,EAW95163,EAW95164,EAW95165,CAH72607,EAW95166,NP_619522,NP_619523,NP_619524,NP_065231,BAA36694,BAA36696,AAC18093,AAC18094,AAM46623,CAC81665,CAC51514,CAD43297,CAI30430,CAH72604,CAH72605,CAH72606,CAM12857,CAM12858,CAM12859,CAM12860 Hs.449968,Hs.523054 CD240CE|MGC103977|RH|RH30A|RHC|RHE|RHIXB|RHPI|Rh4|RhIVb(J)|RhVI|RhVIII OTTHUMP00000040544|RHCE blood group variant Crawford antigen Rh43|Rh blood group C antigen|Rh blood group antigen Evans|Rh polypeptide I|Rhesus blood group CE protein|Rhesus blood group E antigen|Rhesus blood group Rhce antigen|Rhesus system C and E polypeptides|blood group Rh(CE) polypeptide|blood group RhCcEe antigen|rh polypeptide 1|rhesus C/E antigens|silenced Rh blood group CcEe antigen protein-coding 1345053 RHCG Rh family, C glycoprotein 19913121,20628086,19429772,20126667,16580862,18032481,14761968,15929723,12846905,12719424,10852913,12204676,16928804,12388412,19357182,18367154,16564724,16477434,16227429,15489334,12477932,11062476,1417776,20457942 51458 AC013391,AF219986,AF284446,CH471101,AF081497,AF193809,AK290899,AK298252,AK298641,AK301640,AK310222,AK313238,NM_016321,BC015461,BC030965,CR597827,CR597837,AY257182 NP_057405,AAG02171,AAG02414,EAX02051,EAX02052,AAD55748,AAF19372,BAF83588,BAG60517,BAG60816,BAG63121,AAH30965,Q9UBD6,BAG36049,AAP81044 Hs.459284 C15orf6|PDRC2|RHGK|SLC42A3 Rh type C glycoprotein|Rhesus blood group, C glycoprotein|ammonium transporter Rh type C|rh family type C glycoprotein|rh glycoprotein kidney|rhesus blood group family type C glycoprotein|rhesus blood group, c glycoprotein|tumor-related protein DRC2 protein-coding 736735 RHD Rh blood group, D antigen The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16584437,16510313,16181207,16181204,15987365,15754970,15373666,15318849,15284121,15112469,15043574,14570619,12919427,12857961,12760254,12675718,12493401,12477932,12439825,12393640,12358932,12201845,12200394,12130520,12084172,12070041,11902138,11724987,11716963,11436564,11288127,11161244,10924335,10845894,10753853,10737800,10627438,10607679,1438298,19388479,19170995,19055536,18544617,18426681,18027815,17900276,17497744,17204201,17196520,17036929,17035176,17029203,16934070,16722361,16584906,16584438,1824267,1379850,10590042,9864185,9845707,8900235,8822955,8808597,8669091,8639918,8554049,8341334,8329718,8220426,8188244,8180407,8080999,7916743,7888828,7789951,7741145,7606008,3146980,3135863,3131772,1898705,17029192,20608477,19364677,19374729,19545247,20188798,20233350,16603771 6007 EU372940,EU372941,EU372942,EU335052,NG_003255,NM_001127691,NG_007494,AB012623,AB012658,AB012659,AB012660,AB012661,AB012769,AF390110,AF390111,AJ131502,AJ276015,AJ276016,NM_016124,AJ278873,AJ299020,AJ417868,AJ428455,AJ504792,AJ534720,AJ548429,AJ548430,AJ548431,AJ548432,AJ557803,AJ557825,AJ557826,AJ557827,AJ585038,AJ585039,AJ585040,AJ585041,AJ630375,AJ633649,AJ784311,AJ784312,AJ867386,AJ867387,AJ867775,AJ867776,AL928711,AM049242,AM072758,AM072759,AM072961,AM157176,AM181333,AM234631,AY149684,AY149686,AY149687,AY170011,AY756316,AY864887,AY864888,AY864889,BN000065,DQ088169,DQ088170,DQ121434,DQ121435,DQ534022,DQ534023,S83376,S83379,Z97031,Z97334,AB018966,AB018967,AB018968,AB018969,AB037270,AB046420,AB049754,AF037626,AF177938,AF187846,AF312679,AF510069,AF510070,AJ704215,AK297151,AM183924,AV746749,AW805821,AY449381,AY449382,AY449383,AY449384,AY449385,AY751491,AY751492,AY751493,AY751494,AY751495,AY751496,BC139922,BF798211,DQ451878,U66341,EU557240,EU557241,EU661905,EU661906,EU661907,L08429,S57971,S70174,S73913,S78509,S82449,X63094,X63097,Z97026,AM691826,AM998549,AM398143,AM398144,AM998540,FN394731 ABY75965,ABY75966,ABY75967,ACA35010,NP_057208,NP_001121163,BAA32804,BAA32815,BAA70073,BAA32817,BAA32818,BAA70085,AAM46621,AAM46622,CAA10381,CAC81663,CAC07808,CAC10191,CAD10630,CAD21486,CAD43296,CAD58985,CAD68166,CAD68167,CAD68168,CAD68169,CAD89873,CAD89887,CAD89888,CAD89889,CAE51072,CAE51073,CAE51074,CAE51071,CAF74820,CAG17774,CAH04921,CAH04922,CAI29761,CAI29762,CAI30431,CAI30432,CAH72602,CAJ15658,CAC81664,CAJ26351,CAJ26348,CAJ43113,CAJ57392,CAJ81056,AAO27437,AAO27438,AAO27439,AAO39709,AAV51934,AAX63192,AAX63193,AAX63194,CAD29848,AAZ09245,AAZ09246,AAZ09247,AAZ09248,ABF83900,ABF83901,AAN86716,AAN86717,CAJ26349,AAB39602,CAB09727,CAB10170,BAA81899,BAA81900,BAA81901,BAA82159,BAA90298,BAB21261,BAB16598,AAD02100,AAD55773,AAF04565,AAG40872,AAN75125,AAN75126,CAG28848,BAG59650,CAJ75460,AAR24078,AAR24079,AAR24080,AAR24081,AAR24082,AAU93635,AAU93636,AAU93637,AAU93638,AAU93639,AAU93640,AAI39923,ACB87204,ACB87205,ACD43640,ACD43641,ACD43642,AAA02679,AAB26081,AAB30756,AAB31911,AAB34852,AAB37696,CAA44808,CAA44811,CAB09722,O75102,O75103,O75104,O75835,O75836,O95489,Q02161,Q05GI4,Q08GE1,Q0KG01,Q19A86,Q19A87,Q1KT12,Q2A0N8,Q2P9N2,Q2PBC1,Q2UVE8,Q2UVE9,Q2YHU9,Q2YHV0,Q333A6,Q333X4,Q3ZV40,Q49IM5,Q49IM6,Q4EW05,Q4EW06,Q4FE19,Q4FE20,Q59AE7,Q5CCG6,Q5CCG7,Q5DVP9,Q5DVQ0,Q5DVQ1,Q5DVQ2,ABE77177,Q5NDM4,Q5NDM5,Q5QPZ8,Q5QPZ9,Q5UD29,Q5XLS8,Q5XLS9,Q5XLT0,Q5XLT1,Q5XLT2,Q5XLT3,Q6A1H1,Q6A1H2,Q6A1H3,Q6A1H4,Q6KC49,Q6SV87,Q6SV88,Q6SV89,Q6SV90,Q6SV91,Q6Y8J3,Q70E14,Q70E15,Q70E16,Q70E17,Q70HW2,Q70P87,Q70VV1,Q7LGF4,Q7RU08,Q7Z594,Q86SJ7,Q86SN4,Q86SN5,Q86UI2,Q86UI3,Q86UI4,Q8IUC5,Q8IUJ0,Q8IZT0,Q8IZT1,Q8NDV5,Q8NFY1,Q8NFY2,Q8WWL0,Q96KN0,Q96KU2,Q99673,Q99906,Q9C0J7,Q9H248,Q9H4C7,Q9HCC3,Q9NXY8,Q9UDZ3,Q9UDZ4,Q9UDZ5,Q9UEC7,Q9UK19,Q9UK74,Q9UPC8,AAI60075,CAM88658,CAQ53130,CAL44955,CAL44956,CAQ53121,CAY97110 Hs.449968 CD240D|DIIIc|MGC165007|RH|RH30|RHCED|RHDVA(TT)|RHDel|RHPII|RHXIII|Rh4|RhDCw|RhII|RhK562-II|RhPI D antigen (DCS)|OTTHUMP00000211878|RH polypeptide 2|Rh blood group antigen Evans|Rhesus system D polypeptide|blood group Rh(D) polypeptide|rhesus D antigen|rhesus blood group protein-coding 1353122 RHEB Ras homolog enriched in brain This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq] 2308795,1625616,1625606,1580863,1625609 20053679,19570981,19636822,19838215,20048149,20127734,20354165,20388784,20375271,20554106,20685651,20837708,12906785,8543055,8206940,8661031,15755954,15809305,15951850,19222999,18948269,18842593,18708578,18708577,18658153,18650380,18550814,18521078,18324915,17991864,17928295,17470430,17018601,16803888,16631613,16344560,16098514,16006564,15878852,15854902,15809346,15728574,15489334,15388940,15340059,15308774,15150271,14702039,12869548,12853948,12842888,12820960,12771962,12690205,12477932,11980706,10924367,9847074,9099708,9001246,8889548,17077083,16915281,15772076,15775987,9130713,12869586,21048031,20818424 2308795,1625616,1625606,1625609 6009 NM_005614,AACC02000108,AC005996,CH471173,AF148645,AF493921,AK125446,AK289370,BC009638,BC016155,BC066307,BC107705,BG702213,BM670621,BT006958,CR613801,D78132,DA475169,Z29677 NP_005605,EAL24515,AAD15548,EAW53986,EAW53987,EAW53988,EAW53989,AAF73125,AAM12635,BAG54198,BAF82059,AAH16155,AAH66307,AAI07706,AAP35604,BAA11211,CAA82774,Q15382,Q6NZ61 Hs.283521,Hs.568850,Hs.647068 MGC111559|RHEB2 GTP-binding protein Rheb|Ras homolog enriched in brain 2 protein-coding 1346400 RHEBL1 Ras homolog enriched in brain like 1 737633,1580863 12869548,16328882,16189514,16098514,15761153,12477932 737633 121268 NM_144593,AC011603,CH471111,AK098663,AY327412,AY509932,BC014155,BC027482,CR612990 NP_653194,EAW58037,EAW58038,BAC05370,AAP92804,AAS80166,AAH14155,AAH27482,Q8TAI7 Hs.159013 FLJ25797|MGC34869|RHEBL1c GTPase RhebL1|Ras homolog enriched in brain like 1 c|ras homolog enriched in brain like-1 c|ras homolog enriched in brain-like protein 1|rheb-like protein 1|rheb2 protein-coding 1352603 RHEBP1 Ras-homolog enriched in brain pseudogene 1 729721 17470430,12869548,8543055,8206940 729721 6008 NG_002826,AL356056 RHEB|RHEB1 pseudo 731395 RHO rhodopsin Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq] 1601619,1601635,1580863,1601620 8107847,17693260,1418997,8253795,11256614,19506198,19493002,19325938,19085385,18974094,18698306,18552984,18487375,18385078,18318631,18175313,17936999,17653048,17488458,17325176,17289151,16767206,16565402,16381901,16229860,16185528,16049034,15823756,15793783,15726226,15659613,15509574,15489336,15489334,15251955,15232620,14566652,12871954,12754272,12646201,12601165,12590587,12477932,12359230,12297272,12091393,11972042,11910130,11910029,11498053,11394879,11230166,11076863,10980774,10722682,10636894,10051572,9888392,9852134,9169442,9099669,8943080,8841304,8617805,8566799,8554077,8430695,8406457,8401533,8366096,8358437,8353500,8317502,8288567,8240107,8180207,8144599,8088850,8081400,8076945,8045708,7987385,7987331,7987326,7981701,7846071,7673885,7633434,7523628,6589631,3942531,3769527,3350146,2629206,2613244,2333895,2239971,2218504,2215617,2137202,2016091,1987955,1985460,1917988,1897520,1589761,1580841,1539595,1484692,1391967,1356370,1302614,1301135,20697005,1882937,1765377,1862076,1840561,1833777,20591486,20801516,20832389,18240029,19206210,19439413,19795853,19801547,19836958,19934218,19955366,19958124,19960070,20097236,20164459,20628051 1601619,1601635,1601620 6010 NM_000539,NG_009115,AB065668,AC080007,CH471052,S81166,U16824,U49742,BC112104,BC112106,BX537381 NP_000530,BAC05894,EAW79244,AAB35906,AAA97436,AAC31763,AAI12105,AAI12107,CAD97623,P08100,CAL37658,AAI11452 Hs.247565 CSNBAD1|MGC138309|MGC138311|OPN2|RP4 opsin 2, rod pigment|opsin-2|retinitis pigmentosa 4, autosomal dominant|rhodopsin|rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) protein-coding 1347797 RHOA ras homolog gene family, member A 1642819,1642801,1642807,1642810,1642826,1642966,1642967,1642803,1642963,2302030,2298874,2298875,2298885,2298881,2298866,2298867,2298869,2298879,2298868,2298888,2298872,2298873,2298877,2298887,1547860,1547861 20220547,20140537,20808760,20828398,20937815,20006706,20376724,18983771,20061625,20442409,7835413,3822842,2407642,1556108,1328215,16105876,17353931,15659383,11368848,9490022,9535855,16189514,12515866,11432776,12857875,12454018,12446789,12773565,8816443,9535835,11162552,12482610,12748184,12842009,14530271,15834426,15889147,15766663,15652748,15809302,15793569,15793564,15761153,15755723,15668138,15643515,15642170,15640525,15611088,15598682,15579505,15574779,15557193,15535843,15530360,15489334,15475381,15475352,15448013,15331592,15322077,15308673,15298851,15210811,15208091,15184877,15817453,15155793,18687805,18660502,18653556,18651974,18628484,18593598,18575772,18567581,18541705,18524772,18509476,18509267,18495213,18477564,18458160,18445682,18434237,18356691,18334926,18316594,18314880,18300342,18292502,18287519,18287089,18198190,18182571,18172303,18096806,18088600,18079197,18078809,18005701,18005700,17976533,17951409,17947676,17947237,17914970,17896152,17855350,17825823,17702745,17673200,17658517,17636025,17635521,17597401,17562701,17517067,17507466,17502338,17493936,17492768,17488622,17446864,17360533,17332506,17310253,17301947,17301291,17300916,17284169,17273773,17197445,17190792,17178865,17130286,17115030,17086988,17077126,17018860,17018591,17007568,16996686,16978776,16904289,16864657,16776827,16772297,16684954,16681996,16652149,16645187,16644720,16632465,16622418,16540523,10436159,15644318,10066731,12761501,17488780,15467718,19470470,19451223,19421144,19391109,19372585,19318350,19306108,19293150,19265130,19234490,19173301,19152186,19151751,19147561,19147496,19103606,19049388,19038009,19015318,18996642,18996344,18955552,18953413,18948190,18937283,18929667,18923442,18922893,18851832,18844232,18835241,18829495,18827818,18824598,18781093,18757503,18757369,18751372,18721871,18713748,18694745,18688040,16513651,16496227,16481321,16472676,16427251,16424340,16402387,16397238,16394104,16352658,16308318,16257181,16247472,16118207,16112081,16109481,16103226,16061799,15963982,15925904,15901767,16537448,15890975,15843433,15125835,15102021,15096506,15069594,15068789,15023524,15016733,15009099,15003991,14749388,14660612,14657501,14644158,14612927,14605490,14581471,14514689,14506264,12972601,12972426,12944407,12939257,12900402,12879077,12847276,12808121,12805219,12777804,12766172,12719789,12692008,12654918,12593858,12584113,12579323,12538863,12534282,12533515,12524425,12490434,12477932,12466390,12445208,12432077,12423633,12401808,12397214,12244193,12221096,12221077,12169092,12154081,12119292,12115629,12093360,12071848,12062101,12016230,12006984,11998687,11948427,11927263,11909943,11907271,11889037,11839765,11839748,11830597,11830497,11822867,11818523,11788600,11786539,11779461,11751986,11741970,11696353,11689693,11672528,11591790,11560922,11373293,11350930,11335720,11311142,11284700,11149925,11085924,10948190,10947987,10940294,10896672,10854437,10748207,10713718,10526156,10523675,10388627,10220378,10051605,9857026,9804788,9799233,9647788,9635436,9614111,9605859,9582072,9565577,9548756,9545299,9446575,9407060,9373149,9354661,9302995,9199174,9121475,9113980,8910519,8798490,8769096,8662891,8641286,8617235,8543060,8491184,8125298,8039707,7989340,20223287,20399237,20547485,20733052,10489445,10595511,10619026,12692556,12951563,15128850,15670823,15710384,15864301,16188938,16215275,17335080,17719543,19403695,19443661,19477269,19487339,19499974,19506078,19509057,19527220,19533666,19550117,19586902,19602845,19620624,19625450,19635823,19642867,19644046,19651782,19654316,19680746,19682162,19726670,19752040,19762715,19772916,19773279,19776349,19782033,19787194,19798549,19805522,19826000,19857574,19911011,19944695,19956681,20041165,20056178,20068229,20236512,20307617,20348106,20363740,20403997,20416077,8571127,19912238,20429915,20696764,20801873,20591975,20130732,20628200,20814828,21145500,20655307,20660160,20682776,20805359,20811682,20859068,20383141,20507639,19913121,20628086,20877624,20503409 1642819,1642801,1642807,1642810,1642826,1642966,1642967,1642803,1642963,2302030,2298874,2298875,2298885,2298881,2298866,2298867,2298869,2298879,2298868,2298888,2298872,2298873,2298877,2298887,1547860,1547861 387 NM_001664,AC104452,AC121247,AC137114,CH471055,M83094,AF498970,AK130066,AK130808,AK222556,AK296654,AK307220,BC000946,BC001360,CR610290,CR613062,CR614049,CR617634,CR620398,CR621617,CR623439,CR624260,CR624876,L09159,L25080,X05026,BC005976,BT019870,BX647063,CR590795,CR591837,CR592238,CR594903,CR595507,CR595947,CR596439,CR596598,CR596885,CR598647,CR600849,CR601531,CR602199,CR602563,CR602766,CR602977,CR605973,CR607421,CR607713,CR608339,CR608641,CR610129,CS401488 NP_001655,EAW64978,EAW64979,EAW64980,AAA67539,AAM21117,BAD96276,BAG59251,AAH00946,AAA50612,AAC33178,CAA28690,P61586,Q9BVT0,ACE87194,ACE86513,AAH01360,AAH05976,AAV38673,CAE46190,CAL40338 Hs.247077 ARH12|ARHA|RHO12|RHOH12 Aplysia ras-related homolog 12|OTTHUMP00000210783|OTTHUMP00000210785|h12|oncogene RHO H12|rho cDNA clone 12|small GTP binding protein RhoA|transforming protein RhoA protein-coding 1351195 RHOB ras homolog gene family, member B 2298874 19889053,20460403,14702039,14647415,13679859,13679852,12939257,12878865,12477932,12473120,12237774,12221096,11905808,11788600,11786539,11741970,11546812,11353846,11149925,10913192,10713718,9811589,9734811,9478917,8939998,8889548,8621375,7713879,7537292,3283705,2407642,8543060,15102679,1400319,3888408,10508588,15226397,19208833,18694745,18590726,18524772,18471322,18212741,18056259,18047684,17728102,17405813,17304710,17198702,17096327,17054945,17046241,16642435,16278215,15944396,15815621,15713677,15642170,15574879,15489334,15451670,17163575,18464290,19477269,19637314,19782069,19911011,19995557,20237151,8617235,20717930,20810568,19997872 2298874 388 NM_004040,AC023137,BK001671,CH471053,AF171089,AF498971,AK124398,AK312487,BC062781,BC066954,BK001232,BM669284,BT019546,BT019547,CR542272,CR626079,M12174,X06820 NP_004031,AAY24345,DAA01912,EAX00819,EAX00820,AAQ13605,AAM21118,BAG54035,BAG35389,AAH66954,DAA01138,AAV38353,AAV38354,CAG47068,AAA36565,CAA29968,P62745,Q7Z4F6,ACE87799,ACT64485 Hs.502876 ARH6|ARHB|MST081|MSTP081|RHOH6 Aplysia RAS-related homolog 6|h6|oncogene RHO H6|rho cDNA clone 6|rho-related GTP-binding protein RhoB protein-coding 1315735 RHOBTB1 Rho-related BTB domain containing 1 The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq] 1580863 16344560,16170569,15489334,15146197,14702039,14521508,12477932,12426103,11222756,9872452,16385451,19430483 9886 NR_024554,NM_014836,NR_024556,AC011197,AC027678,CH471083,CQ783182,AB018283,AK075129,AK307630,AK309440,BC032848,BC041791,BC093035,BQ574439,CB959762,CF593541,CN286750,CR592220,CR624360,DA781491,NR_024555,DR004641,DA859805,DB453441 NP_055651,EAW54211,EAW54212,EAW54213,EAW54214,EAW54215,EAW54216,EAW54217,CAF86387,BAA34460,BAC11421,AAH32848,AAH41791,AAH93035,O94844,Q567T3,ABM83380,ABM86592 Hs.148670 KIAA0740|MGC33059|MGC33841 rho-related BTB domain-containing protein 1 protein-coding 1320529 RHOBTB2 Rho-related BTB domain containing 2 RHOBTB2 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM] 1580863 18762809,18640857,18039672,17906984,17653899,17617377,17517369,17023000,16344560,15663929,15489334,15107402,12477932,12426103,12370419,12168954,11222756,9872452,19714462,19336002,19173804,19773279,19937980,20237496 23221 NM_015178,NM_001160036,NM_001160037,AC107959,AF315385,CH471080,AA641575,AB018260,AK098744,AK292863,AK314366,AY009093,BC034917,BG255120,DA289763 NP_055993,NP_001153508,NP_001153509,AAK07562,EAW63644,EAW63645,EAW63646,BAA34437,BAC05401,BAF85552,AAG61157,AAH34917,Q8N798,Q9BYZ6 Hs.372688 DBC2|KIAA0717 deleted in breast cancer 2 gene protein|p83|rho-related BTB domain-containing protein 2 protein-coding 1323267 RHOBTB3 Rho-related BTB domain containing 3 RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM] 1580863 12426103,18029348,17035353,15489334,15146197,14702039,12477932,11222756,10048485,9110174,8619474,19019082,19490898,19834535 22836 AC008821,NM_014899,AC008840,CH471084,AB020685,AF131794,AK023621,AK290034,BC013169,BC020231,BC041337,BC047884,CN361948,CR596551,CR622454,HA637644 NP_055714,EAW96049,EAW96050,EAW96051,EAW96052,BAA74901,BAF82723,AAH20231,AAH41337,O94955,CAZ39544 Hs.445030 KIAA0878 rho-related BTB domain-containing protein 3 protein-coding 1312711 RHOC ras homolog gene family, member C This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 2298873,2298874,1580863 19701800,20232393,20503409,20828398,17897917,18211678,17896152,18058225,17696235,17549441,17497936,17265125,17018591,16899593,16710414,16511001,16189514,15969750,15864301,15668138,15642170,15501444,15489334,15146197,15020670,14702039,14614010,14555841,12970882,12939257,12808121,12756732,12477932,12221096,12090470,11839578,11546812,10952316,10436159,8889548,8468062,15670823,17353931,12761501,19421144,19222696,19157876,19152186,19094228,19016761,18980974,18794150,18415097,8816443,8662891,8543060,7989340,7835413,3888408,3283705,1383236,18478927,19462897,19477269,19499974,19642867,19861405,19911011,19953094,20014943,20056178,20101212,20403997,8617235,19107362 2298873,2298874 389 CX872299,L25081,X06821,NM_001042678,NM_175744,NM_001042679,AL603832,CH471122,CS026595,AF085893,AF498972,AK094474,BC007245,BC009177,BC052808,BQ231012,BT019448,BX648784,CA307508,CB851337,CN289691,CR450360,CR601446,CR608776,CR614305 AAC33179,CAA29969,P08134,Q5JR06,Q5JR07,Q5JR08,ABM84097,ABM87469,NP_001036143,NP_786886,NP_001036144,CAI14057,CAI14058,CAI14059,CAI14060,CAI14061,EAW56534,EAW56535,EAW56536,EAW56539,CAI61764,AAM21119,BAG52873,AAH07245,AAH09177,AAH52808,AAV38255,CAG29356 Hs.502659,Hs.658289 ARH9|ARHC|H9|MGC1448|MGC61427|RHOH9 OTTHUMP00000013803|OTTHUMP00000013804|OTTHUMP00000013806|RAS-related homolog 9|oncogene RHO H9|rho cDNA clone 9|rho-related GTP-binding protein RhoC|rhoC GTPase|small GTP binding protein RhoC protein-coding 1322195 RHOD ras homolog gene family, member D Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. [provided by RefSeq] 1580863 20630939,9116026,19160018,18829532,18648664,18552504,18407999,17916560,17342762,17056591,17029007,16651639,16341674,15761153,15489334,15187129,12577064,12477932,11784792,11484930,11350626,10894936,14749388,19576212,19682162,19826002,20528248 29984 CR611537,CR619606,CR621680,NM_014578,AP000729,CH471076,CS026791,D85815,AF498973,BC001338,BM761362,CA433897 O00212,ABM82050,ABM85229,NP_055393,EAW74577,CAI61861,BAA19652,AAM21120,AAH01338 Hs.15114 ARHD|RHOHP1|RHOM|Rho Rho-related protein HP1|ras homolog D|ras homolog gene family, member A|rho-related GTP-binding protein RhoD protein-coding 1352247 RHOF ras homolog gene family, member F (in filopodia) 1580863 11084341,18663754,15489334,14702039,12477932,16341674,20233848 54509 NM_019034,AK130459,AK289482,BC018208,BC018721,BC032529,BC043395,BG574506,BM830620,BQ053707,BQ422695,BU527972,CA426077,AC084018,CH471054,CS026797,AF239923,AK000254 BAA91034,BAF82171,AAH18208,Q9HBH0,NP_061907,EAW98278,EAW98279,CAI61864,AAG24952 Hs.644504,Hs.707579,Hs.720066 ARHF|FLJ20247|RIF rho family GTPase Rif|rho in filopodia|rho-related GTP-binding protein RhoF protein-coding 1316030 RHOG ras homolog gene family, member G (rho G) ARHG is a member of the RAS superfamily of genes, which encode GTP-binding proteins that act in the pathway of signal transduction and play a key role in the regulation of cellular functions.[supplied by OMIM] 634616 16712791,1620121,12879077,19208761,17875742,17570359,17027967,16621998,16568096,16339170,15199069,12545154,12477932,12376551,11909943,11689693,10713718,10523675,9614181,9177787,8939998,8464478,8325658,11368848,11162552,15620647,10648409,11604131,12730235,15761153,16188938,19730683,20056178,20679435 634616 391 AY563952,BC104177,BC104178,BI196968,BT019872,BX359696,CB125569,CR450335,CR542105,CR595510,CR610572,CR611274,CR611277,CR612317,CR614056,CR616579,CR625234,CR625567,L11317,X61587,NM_001665,AC090587,CH471158,AA424888,AF498974 AAS75333,AAI04178,AAI04179,AAV38675,CAG29331,CAG46902,AAA60268,CAA43784,P84095,Q6ICQ8,NP_001656,EAX02575,EAX02576,EAX02577,AAM21121 Hs.501728 ARHG|MGC125835|MGC125836 rho-related GTP-binding protein RhoG protein-coding 1316925 RHOH ras homolog gene family, member H The protein encoded by this gene is a member of the Ras superfamily of small GTPases. Expression of a chimeric transcript of LAZ3 and this gene has been reported as a result of the translocation t(3;4) in non-Hodgkin's lymphomas. This gene encodes a small G-like protein, and unlike most other small G proteins which are expressed ubiquitously, this gene is transcribed only in hemopoietic cells. [provided by RefSeq] 1580863 11809807,15670823,19414807,18691253,18559497,17476282,17443219,16541139,16344560,15761153,15563831,15489334,12477932,11368848,11032736,9226377,7784061,16169070,19847197,19950172,20379614,18029348,20738848 399 NM_004310,AC095057,CH471069,CQ834136,CQ834138,AF498975,AI865435,AK313744,BC014261,BG025818,CA447396,CD703012,CR450349,CR607001,CR619539,DA906265,Z35227 NP_004301,EAW92960,EAW92961,EAW92962,CAH05283,CAH05284,AAM21122,BAG36484,AAH14261,CAG29345,CAA84538,Q15669,Q6ICP4,ABM83555,ABM86793 Hs.654594 ARHH|TTF GTP-binding protein TTF|OTTHUMP00000218532|OTTHUMP00000218533|OTTHUMP00000218534|OTTHUMP00000218535|OTTHUMP00000218536|TTF, translocation three four|rho-related GTP-binding protein RhoH|translocation three four protein protein-coding 1321483 RHOJ ras homolog gene family, member J ARHJ belongs to the Rho family of small GTP-binding proteins. Rho proteins regulate the dynamic assembly of cytoskeletal components for several physiologic processes, such as cell proliferation and motility and the establishment of cell polarity. They are also involved in pathophysiologic process, such as cell transformation and metastasis.[supplied by OMIM] 1580863 17207965,10967094,15761153,15710388,15489334,15304341,14702039,12960428,12477932,20379614 57381 AL049871,CH471061,NM_020663,AB209218,AF087862,AF309563,AF498977,AJ276567,AK027278,AK027351,BC025770,BC062575 ADQ32562,EAW80821,NP_065714,EAW80820,EAW80822,EAW80823,EAW80824,BAD92455,AAP97172,AAL09440,AAM21124,CAC06611,BAB55013,BAB55055,AAH62575,Q59G91,Q7Z513,Q9H4E5 Hs.656339 ARHJ|FLJ14445|MGC34777|RASL7B|TC10B|TCL RAS-like, family 7, member B|TC10-like Rho GTPase|ras-like protein family member 7B|rho-related GTP-binding protein RhoJ|tc10-like GTP-binding protein protein-coding 1345983 RHOQ ras homolog gene family, member Q TC10 is a member of the RAS superfamily of small GTP-binding proteins (see HRAS, MIM 190020) involved in insulin-stimulated glucose uptake.[supplied by OMIM] 1580863 10445846,11309621,19258391,18660489,16950130,16246732,15546864,15489334,15194684,14702039,12972548,12687004,12529401,12508121,12477932,12456725,12242347,12134073,11821390,11162552,11149925,10934474,10490598,2108320,15304341,15361624,10967094,20416077 23433 NM_012249,AC018682,CH471053,AF498976,AK095329,BC013135,BC033251,BC056154,BC065291,BC070485,BC093805,BC101806,BU928962,CR594469,CR624597,M31470 NP_036381,AAY14834,EAX00246,EAX00247,EAX00248,EAX00249,EAX00250,EAX00251,AAM21123,AAH56154,AAH65291,AAH70485,AAH93805,AAI01807,AAA36547,P17081 Hs.709193 ARHQ|RASL7A|TC10|TC10A RAS-like, family 7, member A|ras-like protein TC10|ras-like protein family member 7A|rho-related GTP-binding protein RhoQ protein-coding 1345608 RHOQP ras homolog gene family, member Q pseudogene 319093 NG_002478,AL139099 ARHQP|RHOQP pseudo 3129723 RHOQP2 ras homolog gene family, member Q pseudogene 2 730041 AC073869,NG_023007 pseudo 3278535 RHOQP3 ras homolog gene family, member Q pseudogene 3 284988 AC018804,NG_022969 pseudo 1315969 RHOT1 ras homolog gene family, member T1 16630562,19135897,12482879,19103291,19098100,16381901,15489336,15489334,15146197,14702039,14521508,12477932,11230166,11076863,20379614,20877624 55288 NM_001033566,NM_018307,AC026620,AC116407,CH471147,AJ496730,AJ517412,AK001902,AK022695,AK294407,AL136929,AY094972,BC015698,BC029029,BC041114,BC051818,BC060781,BC068463,BC092401,BC110895,BC125104,BC125105,CN352790,NM_001033568,AL117543 AAI46695,NP_001028740,NP_001028738,NP_060777,EAW80242,EAW80243,EAW80244,EAW80245,EAW80246,EAW80247,EAW80248,EAW80249,EAW80250,EAW80251,CAD43139,CAD56956,BAA91969,BAB14185,BAG57659,CAB66863,AAM15734,AAH15698,AAH41114,AAH51818,AAH60781,AAH68463,AAI25105,AAI25106,Q8IXI2,CAL38085 Hs.655325 ARHT1|FLJ11040|FLJ12633|MIRO-1 hMiro-1|mitochondrial Rho 1|mitochondrial Rho GTPase 1|rac-GTP binding protein-like protein|rac-GTP-binding protein-like protein protein-coding 4891171 RHOT1P1 ras homolog gene family, member T1 pseudogene 1 100462813 AP001004,NG_026314 RHOT1P|RHOT3 pseudo 3051026 RHOT1P2 ras homolog gene family, member T1 pseudogene 2 100462811 AP001466,NG_021988 pseudo 4108629 RHOT1P3 ras homolog gene family, member T1 pseudogene 3 100462810 AL391382,NG_021958 pseudo 1347429 RHOT2 ras homolog gene family, member T2 20877624,16630562,12482879,19098100,15489334,15231748,15218247,14702039,14521508,12477932,11157797 89941 AE006464,CH471112,Z92544,AJ517413,AK024450,AK090426,AK308984,AL834163,AY207375,BC004327,BC014942,NM_138769,CR597322,CR611878,HC250975,HC311164 NP_620124,AAK61240,EAW85763,EAW85764,EAW85765,EAW85766,EAW85767,EAW85768,CAM26351,CAD56957,BAB15740,BAC03407,AAP46090,AAH04327,AAH14942,Q8IXI1,CBJ05785,CBJ21237 Hs.513242 ARHT2|C16orf39|MIRO-2|RASL hMiro-2|mitochondrial Rho 2|mitochondrial Rho GTPase 2 protein-coding 1347334 RHOU ras homolog gene family, member U This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. [provided by RefSeq] 1580863 19135548,15350535,18086875,19064640,18849993,17504809,16751668,15556869,14731133,14702039,12477932,11894124,11459829,20547754,20844546 58480 NM_021205,AL096776,CH471098,DQ384420,DQ384421,DQ384422,DQ384423,DQ384424,DQ384425,AB051826,AB074878,AB209511,AF211836,AF251701,AF282258,AF378087,AK001478,AK289971,BC040076,CR616242,HI574064,GN344107 NP_067028,CAC00584,EAW69885,EAW69886,ABD48870,ABD48871,ABD48872,ABD48873,ABD48874,ABD48875,BAB18638,BAB86361,BAD92748,AAL54874,AAL99390,AAG46058,AAK83340,BAF82660,AAH40076,Q7L0Q8,CBX47521,CAY55989 Hs.647774 ARHU|CDC42L1|DJ646B12.2|FLJ10616|WRCH1|fJ646B12.2|hG28K 2310026M05Rik|CDC42-like GTPase 1|GTP-binding protein SB128|GTP-binding protein like 1|GTP-binding protein-like 1|Ryu GTPase|ras-like gene family member U|rho GTPase-like protein ARHU|rho-related GTP-binding protein RhoU|wnt-1 responsive Cdc42 homolog 1 protein-coding 1604729 RHOV ras homolog gene family, member V 17355222,17035353,15664990,12477932,11956592,11839775,9778532 171177 AC025166,CH471125,AB079131,AY059636,BC019353,BC105020,BC105022,BC112945,CR599960,CR615243,CR618466,NM_133639 NP_598378,EAW92459,EAW92460,BAB86363,AAL17966,AAH19353,AAI05021,AAI05023,AAI12946,Q05D03,Q96L33 Hs.447901 ARHV|CHP|WRCH2 CDC42-like GTPase 2|GTP-binding protein-like 2|Rho GTPase-like protein ARHV|WRCH-2|WRCH1-related GTPase|Wnt-1 regulated Cdc42 homolog 2|Wnt-1 responsive Cdc42 homolog 2|rho-related GTP-binding protein RhoV protein-coding 1603173 RHOXF1 Rhox homeobox family, member 1 12490318,11980563,16713569,16189514,15772651,15489334,15231747,12477932 158800 NM_139282,AC005023,CH471161,AY099086,BC069324,BC069529,BC103857,BC103858 NP_644811,AAC78617,EAW89834,AAM22794,AAH69324,AAH69529,AAI03858,AAI03859,Q8NHV9,ABZ92380 Hs.644617 MGC119030|MGC119033|OTEX|PEPP1 PEPP subfamily gene 1|ovary-, testis- and epididymis-expressed gene protein|paired-like homeobox protein OTEX|paired-like homeobox protein PEPP-1|rhox homeobox family member 1 protein-coding 1626588 RHOXF2 Rhox homeobox family, member 2 15231747,16189514,15489334,14702039,12490318,12477932,16713569,19060904,19447967 84528 NM_032498,AC002086,CH471161,AF317219,AK058125,AL590524,AL590526,BC021719 NP_115887,EAW89836,AAL02160,BAB71675,CAC36517,CAC36519,AAH21719,Q9BQY4,ABM81918,ABM85095 Hs.567620 CT107|PEPP-2|PEPP2|THG1 PEPP subfamily gene 2|cancer/testis antigen 107|homeobox protein from AL590526|paired-like homeobox protein PEPP-2|rhox homeobox family member 2|testis homeobox gene 1 protein-coding 1626578 RHOXF2B Rhox homeobox family, member 2B 727940 NM_001099685,AC005023 P0C7M4,NP_001093155 Hs.196956 PEPP subfamily gene 2-like|rhox homeobox family member 2B protein-coding 1313863 RHPN1 rhophilin, Rho GTPase binding protein 1 1580863 16189514,15489334,14749388,12477932,12221077,11572484,10591629 114822 NM_052924,AC087793,AC105118,CH471162,AB067516,AY082588,BC012135,BC025767,BX341691,CR612945 NP_443156,EAW82251,EAW82252,EAW82253,EAW82254,EAW82255,EAW82256,BAB67822,AAL89809,AAH25767,Q8TCX5 Hs.521912 KIAA1929|ODF5|RHOPHILIN|RHPN GTP-Rho-binding protein 1|outer dense fiber of sperm tails 5|rhophilin 1|rhophilin-1 protein-coding 1318093 RHPN2 rhophilin, Rho GTPase binding protein 2 This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq] 1580863 20530476,20638935,20648012,20659471,17353931,19011631,16777052,15761153,15489334,14702039,12477932,12473120,12221077,12773565,14749388,15778465,21071539,20437058,20501757 85415 AC008521,AC011449,AC093069,AF268032,AF423421,AJ347750,AK026894,AK095001,AK098246,AK126506,AK300775,AK315105,AL831950,BC036447,NM_033103,DC348657 NP_149094,AAK58588,AAQ04062,CAC87939,BAC04471,BAG53600,BAG54339,BAG62439,BAG37565,CAD38597,AAH36447,Q8IUC4,ABM83037,ABM86231 Hs.466435 P76RBE|RHOBP 76 kDa RhoB effector protein|GTP-Rho-binding protein 2|rhophilin 2|rhophilin-2|rhophilin-like Rho-GTPase binding protein protein-coding 3129784 RHPN2P1 rhophilin, Rho GTPase binding protein 2 pseudogene 1 646090 AC126603,NG_023012 pseudo 1344064 RIBC1 RIB43A domain with coiled-coils 1 1580863 15772651,15489334,14702039,12477932 158787 NM_001031745,CH471154,Z97054,AK057345,AK290346,AK292871,AK304179,BC036767,NM_144968 NP_659405,NP_001026915,EAW93152,EAW93153,EAW93154,EAW93155,EAW93156,CAI42648,CAI42649,CAI42650,BAB71438,BAF83035,BAF85560,BAG65059,AAH36767,Q8N443,ADR83313 Hs.351743 2610028I09Rik|FLJ32783|MGC46233 OTTHUMP00000023355|RIB43A-like with coiled-coils protein 1 protein-coding 1351194 RIBC2 RIB43A domain with coiled-coils 2 737633 18029348,16189514,15461802,12477932,10591208,9373149,8125298,16169070,15489334 737633 26150 NM_015653,AL021391,CH471138,AK098586,AK225722,AL050075,AL442116,BC003024,BC009904,CR456438,CR457398 NP_056468,EAW73384,CAB43258,CAC09526,AAH03024,AAH09904,CAG30324,CAG33679,Q9H4K1,CAK54429,CAK54728 Hs.475110 C22orf11 RIB43A-like with coiled-coils protein 2 protein-coding 1606245 RIC3 resistance to inhibitors of cholinesterase 3 homolog (C. elegans) RIC3 is a protein associated with nicotinic acetylcholine receptors (nAChRs), neurotransmitter-gated ion channels expressed at the neuromuscular junction and within the central and peripheral nervous systems, that can enhance functional expression of multiple nAChR subtypes (Lansdell et al., 2005 [PubMed 16120769]).[supplied by OMIM] 18691158,18471073,18246096,18208544,18179477,17609200,17192664,16344560,16120769,15927954,15809299,15504725,14702039,12975309,12821669,12477932,19913121,20522555,20628086 79608 NM_024557,NM_001135109,AC091013,AC116456,AC129895,CH471064,AK021670,AK293933,AK296505,AK315379,AL832601,AM422214,AY326435,AY326436,AY358475,BC022455,BX647514,DA186330,DC420812,DQ347704,DQ347705,AL390131 NP_078833,NP_001128581,EAW68627,EAW68628,EAW68629,EAW68630,EAW68631,BAB13871,BAH11630,BAH12376,BAG37772,CAD89943,CAM12309,AAP92162,AAP92163,AAQ88839,AAH22455,Q7Z5B4 Hs.231850,Hs.720186 AYST720|FLJ11608|PRO1385 protein RIC-3 protein-coding 1604802 RIC8A resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) 16713569,16629901,16381901,16189514,15489336,15489334,14702039,12509430,12477932,11230166,11076863,10985349,9373149,8125298,16169070,12652642,20479129 60626 NM_021932,AC069287,CH471278,AK022870,AK026897,AK027090,AK027461,AK225420,AK314568,AL136935,AL390088,BC011821,BC094717,BC111499,BC121807,BC121808,BX538115,CR601730 NP_068751,EAW61244,EAW61245,EAW61246,BAB14282,BAB15653,BAB55126,CAB66869,CAB98211,AAH11821,AAI11500,AAI21808,AAI21809,CAD98025,Q9NPQ8,CAL38313 Hs.592292 MGC104517|MGC131931|MGC148073|MGC148074|RIC8|synembryn synembryn|synembryn-A protein-coding 1605657 RIC8B resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) 20133939,12652642,16344560,15489334,14702039,12509430,12477932 55188 AK128102,AY221116,BC034220,BC132689,BC144056,CB215722,DA118965,DA325821,DA534432,NM_018157,AC007695,AC079385,AC090011,CH471054,AK001482 AAO65923,AAH34220,AAI32690,AAI44057,Q9NVN3,NP_060627,EAW97785,EAW97786,EAW97787,BAA91717 Hs.131306 FLJ10620|MGC39476|RIC8|hSyn brain synembrin|brain synembryn|synembryn-B protein-coding 1604841 RICH2 Rho-type GTPase-activating protein RICH2 16344560,15489334,14702039,12477932,11431473,9734811,16169070,19273615 9912 AC005274,AC005277,CH471108,AB014572,AK023797,AK294538,AL080100,AL096728,AY320403,BC022452,BC070074,BC094754,BC117412,BC117416,BC143853,BM993036,DA403021,DB461035,NM_014859,BC143852,BC143855,BC143856 NP_055674,EAW89965,EAW89966,EAW89967,EAW89968,EAW89969,BAA31647,BAG57745,CAH10728,CAB46376,AAP73805,AAH22452,AAI17413,AAI17417,AAI43854,Q17R89,Q69Z00,Q8TBK1,Q9Y4Q4 Hs.499758 KIAA0672|NPC-A-10|RICH2 OTTHUMP00000064673|RICH-2|Rho-type GTPase-activating protein RICH2|RhoGAP interacting with CIP4 homologs protein 2|rho GTPase-activating protein RICH2 protein-coding 1605412 RICS Rho GTPase-activating protein RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM] 18577589,18451111,17663722,16713569,14702039,12857875,12819203,12788081,12531901,12477932,12477392,12454018,12446789,12421765,9872452,15778465,20936779,10737800,20308060 9743 AP000751,CH471065,AB018255,AB079856,AK001257,AK023715,AK025237,AL833062,AY194287,BC000277,BC023644,BC051236,BC054488,BC065371,BC104898,BC113429,EF127492,NM_014715,AP000747,AP002886,BQ319051,CK823137,NM_001142685 NP_055530,EAW67732,EAW67733,EAW67734,EAW67735,EAW67736,EAW67737,EAW67738,EAW67739,EAW67740,EAW67741,EAW67742,BAA34432,BAC24802,CAD89974,AAO43677,AAH00277,AAH51236,AAH65371,AAI04899,AAI13430,ABO33171,A7KAX9,Q86T64,Q86UT2,NP_001136157 Hs.440379 GC-GAP|GRIT|KIAA0712|MGC1892|PX-RICS|RICS|p200RhoGAP|p250GAP GAB-associated CDC42|GAB-associated Cdc42/Rac GTPase-activating protein|GTPase regulator interacting with TrkA|RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaling|brain-specific Rho GTP-ase-activating protein|brain-specific Rho GTPase-activating protein|rac GTPase activating protein|rho GTPase-activating protein 32|rho-type GTPase-activating protein 32|rho/Cdc42/Rac GTPase-activating protein RICS|rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling protein-coding 1604194 RICTOR RPTOR independent companion of MTOR, complex 2 RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM] 2308795,2307383,1625616 20832730,16221682,19145465,19341427,19724909,19934294,19995915,20412774,18339839,15268862,15718470,19402821,18505677,18089801,17461779,17329400,17043309,16962653,16959881,15467718,15302935,14702039,12477932,12056414,15809305,16919458,16603397,16183647,20501647,21170086,20819778,20427287,18776922,18831768,19018001,20226010,20338997,20438709 2308795,2307383,1625616 253260 AC008964,AC026713,AC109467,CH471119,AB082530,AK024327,AK094538,AK127305,AK128358,AL834497,AY515854,BC029608,BC051729,BC137163,BC137164,BC144509,CR749280,NM_152756 NP_689969,EAW55978,EAW55979,EAW55980,BAC02708,CAD39155,AAS79796,AAH29608,AAH51729,AAI37164,AAI37165,AAI44510,CAH18135,Q6R327,Q8N6M7,ABM82598,ABM85784 Hs.407926 DKFZp686B11164|KIAA1999|MGC39830|PIA|mAVO3 AVO3 homolog|TORC2-specific protein AVO3|hAVO3|pianissimo|rapamycin-insensitive companion of mTOR protein-coding 1351547 RIEG2 Rieger syndrome 2 6012 1352449 RIF1 RAP1 interacting factor homolog (yeast) 17081983,16964243,15583028,15342490,15302935,14702039,9110174,8619474,15383276,17118363,19483192,12477932,20677014,20562859,20936779 55183 AC009311,AC009497,CH471058,AK000323,AK001461,AK022932,AK024033,AK074349,AK299291,AK299572,AL080129,AL137363,AY584066,NM_018151,AY585745,AY727910,AY727911,AY727912,AY727913,BX648324,CR933663,U79263,NG_017162,NM_001177663,NM_001177664,NM_001177665,BC072675 NP_060621,EAX11507,EAX11508,EAX11509,EAX11510,BAA91705,BAB14313,BAB14792,BAB85058,BAG61306,BAG61511,CAB45727,AAT40745,AAV51401,AAV51402,AAV51403,AAV51404,CAI45961,AAB50209,Q5UIP0,AAI72393,AAS94233,NP_001171134,NP_001171135,NP_001171136 Hs.655671,Hs.725538 DKFZp434D1026|DKFZp781N1478|FLJ12870 OTTHUMP00000162712|OTTHUMP00000207208|OTTHUMP00000207210|rap1-interacting factor 1 homolog|telomere-associated protein RIF1 protein-coding 1317025 RILP Rab interacting lysosomal protein RILP, along with the GTPase RAB7 (MIM 602298), controls late endocytic transport.[supplied by OMIM] 737633,1580863 11179213,19564404,18922795,17959629,16857164,16631113,16417580,15996637,15933719,15498874,15489334,14702039,14668488,12944476,12621583,12477932,12475955,11696325,11520070,11448994,19913121,20628086,20877624,18272684 737633 83547 NM_031430,AC130343,CH471108,AF370391,AJ278711,AJ404317,AK055755,AK314767,BC004961,BC031621,CR614924,CR617608,CR619373 NP_113618,EAW90595,AAQ15227,CAC82174,CAC33443,BAB71003,BAG37305,AAH04961,AAH31621,Q96NA2,ABM83393,ABM86606 Hs.534497 FLJ31193|PP10141 rab-interacting lysosomal protein protein-coding 1602163 RILPL1 Rab interacting lysosomal protein-like 1 14702039,14668488,12477932 353116 NM_178314,AC055713,AC145423,CH471054,AK096697,AK097550,BC041375,BC080626,BC089444,BX281699,BX359997 NP_847884,EAW98415,EAW98416,BAC04845,AAH80626,AAH89444,Q5EBL4 Hs.530315 FLJ39378|MGC105128|MGC99793 RILP-like protein 1|rab-interacting lysosomal-like protein 1 protein-coding 1606943 RILPL2 Rab interacting lysosomal protein-like 2 12477932,16169070,18029348,16189514,14702039,14668488 196383 NM_145058,AC145423,CH471054,AB085763,AK054942,AK056934,BC013042 NP_659495,EAW98411,BAC76826,BAB71313,AAH13042,Q969X0,ABM83505,ABM86722 Hs.488173 FLJ30380|FLJ32372|MGC7036 RILP-like protein 2|p40phox-binding protein|rab-interacting lysosomal protein-like 2 protein-coding 1606822 RIMBP2 RIMS binding protein 2 17855024,16112646,15489334,12477932,10748113,9205841,19615732,20379614 23504 NM_015347,AC063926,CH471054,AA911488,AB002316,AI692410,AK307226,AY699979,BC007632,BM142295,BX641152,CR592066 NP_056162,EAW98512,BAA20776,AAH07632,CAE46066,O15034 Hs.657441 KIAA0318|MGC15831|RBP2|RIM-BP2 RIM binding protein 2|RIMS-binding protein 2 protein-coding 2291774 RIMBP3 RIMS binding protein 3 18029348,17855024,15489334,12477932,11258795,10591208 85376 NM_015672,AC023490,AB051453,AL117509,AL133030,BC035246,HC007058 NP_056487,BAB33336,CAB55970,CAB61362,AAH35246,Q9UFD9,AAI67855,CBH19334 Hs.115429 DKFZp434H0735|KIAA1666|RIM-BP3.1|RIM-BP3.A|RIMBP3.1|RIMBP3A OTTHUMP00000197852|RIM-BP3|RIMS binding protein 3.1|RIMS-binding protein 3.1|RIMS-binding protein 3A protein-coding 2291768 RIMBP3B RIMS binding protein 3B 18029348,17855024 440804 NM_001128635,AP000552,BX112696,DB455171 NP_001122107,A6NNM3 Hs.568257 RIM-BP3.2|RIM-BP3.B|RIMBP3.2 OTTHUMP00000198553|RIMS binding protein 3.2|RIMS-binding protein 3.2|RIMS-binding protein 3B protein-coding 2291772 RIMBP3C RIMS binding protein 3C 17855024,8889548,18029348 150221 NM_001128633,AP000557,BF513974,BU738457 NP_001122105,A6NJZ7 Hs.447643 RIM-BP3.3|RIMBP3.3 OTTHUMP00000198566|RIM-BP3.C|RIMS binding protein 3.3|RIMS-binding protein 3.3|RIMS-binding protein 3C protein-coding 1606921 RIMKLA ribosomal modification protein rimK-like family member A 17207965,16710414,15489334,12477932 284716 NM_173642,AL513331,CH471059,CS061180,BC039737,BX094947,DR000262 ADQ32504,NP_775913,CAH70659,CAH70661,EAX07161,CAI79368,AAH39737,Q8IXN7 Hs.420244 FAM80A|MGC47816|RP11-157D18.1 family with sequence similarity 80, member A|ribosomal protein S6 modification-like protein A protein-coding 1606518 RIMKLB ribosomal modification protein rimK-like family member B 16344560,15489334,12477932,10574462,20643647 57494 NM_020734,AC092490,CH471116,AB033064,AK302847,AW196581,BC006368,BC015879,BC021977,BC033793,CR595615,DA712243,XR_109079,XR_109080,XR_109081 NP_065785,EAW88609,EAW88610,EAW88611,BAA86552,BAH13820,AAH21977,AAH33793,Q9ULI2 Hs.504670 FAM80B|KIAA1238|NAAGS N-acetylaspartyl-glutamate synthetase|family with sequence similarity 80, member B|ribosomal protein S6 modification-like protein B protein-coding 4889769 RIMKLBP2 ribosomal modification protein rimK-like family member B pseudogene 2 100422371 AL360093,NG_027041 pseudo 1352332 RIMKLP ribosomal modification protein rimK-like (E. coli) pseudogene 10830953 54031 NG_000912,AP001724 pseudo 731818 RIMS1 regulating synaptic membrane exocytosis 1 RAB3A (MIM 179490), a member of the RAS gene superfamily, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13; MIM 605836) and its isoforms are required for priming synaptic vesicles for exocytosis. The RIM family of active zone proteins likely function as protein scaffolds that help regulate vesicle exocytosis during short-term plasticity.[supplied by OMIM] 68912 16722236,12578829,12477932,12391317,12163476,11797009,11438522,11438521,11438520,11438519,11343654,9634506,9205841,14734538,17353931,11438518,19240061,19156168,17237123,15746564,15302935,14702039,12871946,12659814,12620390,16344560,17474147,20125193,20379614,20801516 68912 22999 AK295177,AK296303,AK300503,AK300853,AK302571,AK308658,AK309185,AK311105,AK316108,AY190519,BC036608,BC151853,BC152435,AL034373,AL035633,AL160405,AL390056,AL445256,AL590011,CH471051,AB002338,AB045726,AB051866,AF263305,AF263306,AF263307,AF263308,AF263309,AF263310,AK095726,AK293828,AK294868,AK295001,NM_014989,DA417361,DB168720,NG_016209,NM_001168407,NM_001168408,NM_001168409,NM_001168410,NM_001168411 BAH11945,BAH12000,BAH12309,BAH13295,BAH13358,BAH13748,BAH14479,AAO38848,AAH36608,AAI51854,AAI52436,Q3ZCW0,Q86UR5,AAI56412,AAI72482,NP_055804,CAI20558,CAI42135,CAI42136,CAI42137,CAI42138,CAI42139,CAI42140,CAI21554,CAI39598,CAI39600,CAI39601,CAI39602,CAI39603,CAI39604,CAI39605,CAI16961,EAW48787,EAW48788,EAW48789,EAW48790,EAW48791,EAW48792,EAW48793,EAW48794,EAW48795,EAW48796,BAA20798,BAB87121,BAB87242,AAG23162,AAG23163,AAG23164,AAG23165,AAG23166,AAG23167,BAH11605,BAH11906,NP_001161879,NP_001161880,NP_001161881,NP_001161882,NP_001161883 Hs.485729 CORD7|KIAA0340|MGC167823|MGC176677|RAB3IP2|RIM|RIM1 RAB3-interacting protein 2|RIM 1|rab-3-interacting molecule 1|rab-3-interacting protein 2|rab3-interacting molecule 1|regulating synaptic membrane exocytosis protein 1|rim1 protein protein-coding 1351338 RIMS2 regulating synaptic membrane exocytosis 2 1580863 17474147,19199833,18490030,17081983,16192289,15489334,15342556,15146197,14660679,12871946,12620390,12578829,12477932,11598134,10707984,9110174,8619474,20379614,20520587,9872452,20363327 9699 NM_001100117,NM_014677,AC007751,AC012213,AC090448,AC090686,AC107933,AP001572,AP002849,CH471060,AB018294,AF007156,AK126939,AK307790,AK308831,AY057119,AY057120,AY057121,BC018057,BC043144,BE220725,BP230765,CN291844,CR749374,XR_108875 NP_001093587,NP_055492,EAW91888,EAW91889,EAW91890,EAW91891,BAA34471,AAC19157,BAG54403,AAL23679,AAL23680,AAL23681,AAH18057,AAH43144,CAH18227,Q4G1C6,Q68DJ3,Q8IWW0,Q9UQ26 Hs.655271 DKFZp781A0653|KIAA0751|OBOE|RAB3IP3|RIM2 OTTHUMP00000221236|OTTHUMP00000221241|OTTHUMP00000221242|RAB3 interacting protein 3|RIM 2|non-small cell lung cancer RimL3a protein|non-small cell lung cancer RimL3c protein|nuclear protein|rab-3-interacting molecule 2|rab-3-interacting protein 3|rab3-interacting molecule 2|regulating synaptic membrane exocytosis protein 2 protein-coding 1347880 RIMS3 regulating synaptic membrane exocytosis 3 633867,633421,1580863 18490030,17081983,16710414,15489334,12620390,12477932,10748113,9039502,19546099 633867,633421 9783 NM_014747,AL031289,CH471059,AY326956,BC003103,CK005853,CR619233,D87074 NP_055562,CAA20357,EAX07206,EAX07207,AAQ01683,AAH03103,BAA13243,Q9UJD0,ABZ92281 Hs.654808 KIAA0237|NIM3|RIM3 RIM 3|RIM3 gamma|Rab-3 interacting molecule 3|rab-3-interacting molecule 3|regulating synaptic membrane exocytosis protein 3 protein-coding 1350639 RIMS4 regulating synaptic membrane exocytosis 4 633867,1580863 15489334,14702039,12620390,12477932,11780052,20379614 633867 140730 BC104191,BC112985,BX648947,BC104190,NM_182970,AL118522,CH471077,AK055698,AK095716,AK124626,AK126807,AY326954,BC036612 AAI04191,AAI04192,AAI12986,Q3MI43,Q9H426,AAI60058,NP_892015,CAI22760,EAW75897,EAW75898,EAW75899,AAQ01681 Hs.517065 C20orf190|RIM4|dJ781B1.3 RIM 4|RIM4 gamma|RIM4gamma|rab3-interacting molecule 4|regulating synaptic membrane exocytosis protein 4 protein-coding 1348032 RIN1 Ras and Rab interactor 1 729747,1580863 9144171,15886098,17403676,7862125,19118546,19032933,18089779,17390061,16964243,16457816,15951569,15489334,12477932,11788587,11784866,11703925,9208849,3874369,1849280,15031288,10545207,19570984,19806790 729747 9610 NM_004292,AP001107,CH471076,AB209445,AK295365,AK297757,AK301430,BC014417,BG163919,BQ956294,L36463 NP_004283,EAW74512,BAD92682,BAH12046,BAG60106,BAG62958,AAH14417,AAB67270,Q13671,Q59FL5,ABM84601,ABM86764 Hs.1030 ras and Rab interactor 1|ras inhibitor 1|ras inhibitor JC99|ras inhibitor RIN1|ras interaction/interference protein 1 protein-coding 1314166 RIN2 Ras and Rab interactor 2 The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. [provided by RefSeq] 1580863 11733506,1849280,16423831,14702039,12972505,12477932,11780052,11230166,19631308,20889312,20424861 54453 NM_018993,AL049538,AL132821,CH471133,AB060339,AK026753,AK094884,AL136924,BC034698,BC128065,CR617469,M37190,NG_016310 NP_061866,CAI19340,CAI23572,EAX10216,EAX10217,BAB84317,BAG52947,CAB66858,AAI28066,AAA36553,Q8WYP3 Hs.472270 MACS|RASSF4 RAB5 interacting protein 2|RAS association (RalGDS/AF-6) domain containing protein JC265|RAS association domain family 4|RAS inhibitor JC265|RAS interaction/interference protein 2|ras and Rab interactor 2 protein-coding 1314128 RIN3 Ras and Rab interactor 3 RIN3 is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases (see RAB5A; MIM 179512) (Kajiho et al., 2003 [PubMed 12972505]).[supplied by OMIM] 1580863 11733506,18486601,15489334,14702039,12972505,12508121,12477932,17474147,20379614 79890 AK096145,AK128338,BC025248,BC032614,BC034153,BC070062,BX248258,CR620663,CR936654,AL136332,AL159141,AL832844,CH471061,AB060338,AB081753,AK021762,AK026092,AK074176,AK090451,NM_024832 BAC03432,BAC87390,AAH25248,AAH70062,CAD62586,CAI56792,Q5CZ74,Q6NSK7,Q6ZRC2,Q86U22,Q8TB24,NP_079108,EAW81490,EAW81491,EAW81492,EAW81493,EAW81494,EAW81495,EAW81496,EAW81497,EAW81498,EAW81499,BAB84316,BAC16513,BAB13888,BAB15357,BAB85002 Hs.326822 DKFZp762H1613|FLJ11700|FLJ22439 RAB5 interacting protein 3|ras and Rab interactor 3|ras interaction/interference protein 3 protein-coding 1353088 RING1 ring finger protein 1 This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq] 1580863 19549727,15710417,19636380,20819778,20800574,16943429,9199346,18029348,19047128,18830248,17134822,16359901,15489334,15386022,15009096,14574404,12477932,12167701,12167161,12004135,11583618,11171983,10369680,9858531,9205114,7681583,1906426,16189514,10825164,14647293,19913121,20628086,12183370,17468742,17936708,19412891,19851445 6015 AL031228,AL645940,AL713971,AL844527,CH471081,CR547129,CR759733,CR759786,CR847841,AI828228,AK289355,AK301010,NM_002931,AK301378,BC002922,BC051866,BI259576,BT007352,CR594955,CR598354,CR604365,CR606762,CR608675,CR624041,Z14000,AK297552 BAG62627,NP_002922,CAA20235,CAI95620,CAI18069,CAI17650,CAI41841,EAX03683,EAX03684,CAQ10355,CAQ10303,CAQ08246,CAQ10314,BAF82044,BAG62919,AAH02922,AAH51866,AAP36016,CAA78389,Q06587,ABM83883,ABM87203,BAG59945 Hs.727565 RING1A|RNF1 E3 ubiquitin-protein ligase RING1|polycomb complex protein RING1|really interesting new gene 1 protein protein-coding 1602985 RINL Ras and Rab interactor-like 14702039,16344560,19913121,20628086 126432 NM_198445,AC011455,AA653541,AA779599,AK124506,AK126119,AK127808,AK298327,BU196609,DA814564,NM_001195833 NP_940847,BAC87145,BAG60577,Q6ZS11,AAI52815,NP_001182762 Hs.446933 FLJ44131|FLJ45909 ras and Rab interactor-like protein protein-coding 1605055 RINT1 RAD50 interactor 1 11096100,15029241,15272311,17699596,17470549,16600870,16571679,15489334,14702039,12853948,12477932,9847074,16169070,16713569,18029348,19369418 60561 NM_021930,AC073073,CH236947,CH471070,AF317622,AK021847,AK055508,AK057757,AK308126,AL832825,BC007120,BC068483,CR601014 NP_068749,AAQ96849,AAQ96850,EAW83366,EAW83367,AAG42101,BAB13910,BAG51530,AAH07120,AAH68483,Q6NUQ1,ADR82734 Hs.531388 DKFZp667H2324|RINT-1 RAD50-interacting protein 1|hsRINT-1 protein-coding 1314499 RIOK1 RIO kinase 1 (yeast) This gene includes two alternatively spliced transcript variants, which encode different isoforms. The function of this gene has not been determined. [provided by RefSeq] 16183636,15489334,15324660,14702039,12477932,12384809 83732 NM_031480,NM_153005,AL138878,AL139095,CH471087,AF258661,AK054568,AK314467,AL834277,AY094356,BC000811,BC006104,CR608910 NP_113668,NP_694550,CAH72013,CAI16452,EAW55210,AAG44659,BAB70761,BAG37075,CAD38952,AAM15729,AAH06104,Q5W0K5,Q8IWV0,Q9BRS2,Q9H2L9 Hs.437474 AD034|FLJ30006|MGC12903|RRP10|bA288G3.1 prematurely truncated due to insertion of intronic sequence|serine/threonine-protein kinase RIO1 protein-coding 1323125 RIOK2 RIO kinase 2 (yeast) 1580863 19564402,17081983,16344560,16183636,15489334,14702039,12477932,9373149,8125298,19578876 55781 NM_018343,NM_001159749,AC008865,AC008883,CH471084,AK001697,AK002021,AK225348,BC000953,CA415109,CR610601,CR622281,DB240299 NP_060813,NP_001153221,EAW96088,BAA91844,BAA92040,AAH00953,Q9BVS4,Q9NVB0 Hs.27021 FLJ11159|RIO2 OTTHUMP00000222868|serine/threonine-protein kinase RIO2 protein-coding 1321961 RIOK3 RIO kinase 3 (yeast) This gene was identified by the similarity of its product to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of this gene has not yet been determined. [provided by RefSeq] 17353931,9602165,18029348,19050074,16344560,16177791,15489334,14702039,12477932 8780 AC026634,CH471088,AF013591,AK024958,AK057292,AK303938,AK304571,AK310783,BC028360,BC039729,BQ221110,NM_003831,BX640929,CR610942,DB054065,EF445025 NP_003822,EAX01151,EAX01152,EAX01153,AAC26080,BAG51898,BAG64866,BAG65362,AAH28360,AAH39729,O14730,ACA06067 Hs.445511 DKFZp779L1370|SUDD homolog of the Aspergillus nidulans sudD gene product|serine/threonine-protein kinase RIO3|sudD (suppressor of bimD6, Aspergillus nidulans) homolog|sudD homolog|sudD suppressor of Aspergillus nidulans bimD6 homolog|sudD suppressor of bimD6 homolog protein-coding 1320896 RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 2292150,1580863 8612133,9044836,7538908,10356400,17979836,14644197,10521396,12761501,16507998,7758105,12692549,12887920,15064760,11101870,19453261,19336552,19219602,19151112,18990758,18941233,18813792,18635966,18621737,18570872,18450748,18442983,18178551,18067272,17996648,17951993,17638906,17448597,17389591,17306544,17301840,17296724,17235653,16825191,16611992,16603398,16543241,16260783,16127453,15572679,15489334,15144186,15121855,14702039,14574404,14532286,12477932,11854271,11479302,11429546,11369754,11116146,11002422,11002417,10880512,10837247,10744744,10409763,10358032,10339433,9927690,9740801,9430227,8985253,8702708,17981138,18299187,18724939,18450452,18939944,19060883,19131965,9020361,14585990,14754897,10523854,15258597,10755617,10980203,12215447,14653779,15001576,15175328,15276183,16291755,16968706,17449468,18029035,18029348,19524513,19573080,19629486,19632771,19641134,19773279,19890662,19910467,20056645,20354226,20805296,20825417,21048031,16360037,19854138,20936779,16115877,21113135,19913121,20567846,20628086 2292150 8737 AL031963,AY682848,CH471087,AB208926,AJ420482,AK096523,AK304701,AK314176,BC126254,NM_003804,BC126256,BX348786,CR618624,U25994,U50062 NP_003795,CAD70625,AAT74626,EAW55115,EAW55116,EAW55117,EAW55118,BAD92163,BAG53315,BAG65471,BAG36858,AAI26255,AAI26257,AAC50137,AAC32232,Q13546,ADR83242 Hs.519842 FLJ39204|RIP|RIP1 OTTHUMP00000015955|RIP-1|cell death protein RIP|receptor interacting protein|receptor-interacting protein 1|receptor-interacting serine/threonine-protein kinase 1|serine/threonine-protein kinase RIP protein-coding 1319357 RIPK2 receptor-interacting serine-threonine kinase 2 This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq] 1580863 11087742,15657077,17353931,17468049,9642260,9705938,12761501,19336552,18566542,18426885,18359207,18079694,17851464,17355968,17192257,17075290,17054981,16920334,16824733,16582588,16492792,16421571,16418290,16354923,16344560,16189514,15761153,15691841,15620648,15489334,14638696,12975309,12775719,12755636,12477932,12459189,12138198,11894098,11894097,11536016,11487608,11432859,10880512,10719670,10559258,10224040,9575181,10329646,16498402,16997282,18342009,19121870,19406482,19573080,19667203,19693652,19721713,19773279,19911254,20018961,20025869,20125193,21123652,15276183,20800603,21048031 8767 NM_003821,AC004003,CH471060,AF027706,AF064824,AF078530,AI824070,AK075213,AK301448,AY358813,AY358814,AY524045,AY562996,BC004553,CR592019,CR596906,DA040898,AF117829 NP_003812,AAC24561,EAW91655,EAW91656,AAC34970,AAC25668,AAC27722,BAG52085,BAH13484,AAQ89172,AAQ89173,AAS94254,AAS75586,AAH04553,O43353,Q2TU65,Q6Q322 Hs.103755 CARD3|CARDIAK|CCK|GIG30|RICK|RIP2 CARD-carrying kinase|CARD-containing IL-1 beta ICE-kinase|CARD-containing interleukin-1 beta-converting enzyme (ICE)-associated kinase|CARD-containing interleukin-1 beta-converting enzyme-associated kinase|RIP-2|RIP-like-interacting CLARP kinase|growth-inhibiting gene 30|receptor interacting protein 2|receptor-interacting protein (RIP)-like interacting caspase-like apoptosis regulatory protein (CLARP) kinase|receptor-interacting protein 2|receptor-interacting serine/threonine-protein kinase 2 protein-coding 1342902 RIPK3 receptor-interacting serine-threonine kinase 3 The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq] 1580863 10339433,10358032,19524512,18533105,18025550,17827388,17114179,16844082,16429275,16344560,15896315,15208320,15064760,12477932,11734559,10818227,20634891,19524513,19690434,20354226 11035 NM_006871,AL096870,CH471078,AF156884,AK075275,AK296140,AK296309,AY453693,AY494982,AY494983,BC041668,BC062584,BE676675,DB274842 NP_006862,EAW66021,EAW66022,AAD39005,BAG58881,BAG59007,AAS16359,AAS75516,AAS75517,AAH62584,Q9Y572 Hs.268551 RIP3 RIP-3|RIP-like protein kinase 3|receptor interacting protein 3|receptor-interacting protein 3|receptor-interacting serine/threonine-protein kinase 3 protein-coding 1323281 RIPK4 receptor-interacting serine-threonine kinase 4 The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq] 1580863 18511573,19818768,20379614,9199174,10948194,18025152,17039240,14702039,12747765,12676934,12477932,12446564,11278382,10830953,8889548 54101 AK296685,AK302592,AK316412,NM_020639,AP001615,AP001616,AP001743,CH471079,AB047783,AF308292,AJ278016,AK027424,AL137448,BC035755,BC110617,BC110618,BM979316 BAH12413,BAH13756,BAH14783,NP_065690,BAA95526,EAX09589,EAX09590,EAX09591,BAB56136,AAG48260,CAC04247,BAB55102,CAB70741,AAI10618,AAI10619,P57078,Q2TB16,Q96T11,Q9H281,Q9H4D1,Q9NTA1,ACE87515,ACE86829 Hs.517310 ANKK2|ANKRD3|DIK|MGC129992|MGC129993|PKK|RIP4 PKC-delta-interacting protein kinase|ankyrin repeat domain 3|ankyrin repeat domain-containing protein 3|receptor-interacting serine/threonine-protein kinase 4|serine/threonine-protein kinase ANKRD3 protein-coding 1641968 RIPPLY1 ripply1 homolog (zebrafish) 12477932 92129 NM_138382,AL591849,CH471120,BC007652,BC101998,BC105691,BC105692,BC110436,BC127250,BX106639,NG_022934,NM_001171706 NP_612391,CAI40159,CAI40160,EAX02733,AAI05692,AAI05693,AAI10437,AAI27251,Q0D2K3,NP_001165177 Hs.334726 RP11-321G1.2 OTTHUMP00000023792|protein ripply1 protein-coding 1604749 RIPPLY2 ripply2 homolog (zebrafish) 20511563,17531978,16326386,12477932,19913121,20628086 134701 NM_001009994,AL139232,CH471051,BC130460,BC132968 NP_001009994,CAI19902,CAI19903,EAW48651,AAI30461,AAI32969,Q5TAB7,ADR83465 Hs.149454 C6orf159|dJ237I15.1 protein ripply2 protein-coding 1343782 RIT1 Ras-like without CAAX 1 RIT belongs to the RAS (HRAS; MIM 190020) subfamily of small GTPases (Hynds et al., 2003 [PubMed 12668729]).[supplied by OMIM] 1580863 8824319,8918462,10712923,18846501,18381890,16123585,15761153,15632082,14767908,12668729,12477932,10545207,16169070,17474147,17636018,18303015,18332868,19030229,19557001,20389280 6016 AL139128,AL355388,CH471121,AF084462,AF493923,AK298768,AK314239,BC104186,BC104187,BM546985,CR407639,U71203,U78165,NM_006912,Y07566 NP_008843,CAH69943,CAH69944,CAH72621,CAH72622,EAW53024,AAD13021,AAM12637,BAG60910,BAG36908,AAI04187,AAI04188,CAG28567,AAB42213,AAB64246,CAA68851,Q5VY89,Q5VY90,Q92963 Hs.491234 MGC125864|MGC125865|RIBB|RIT|ROC1 GTP-binding protein Rit1|GTP-binding protein Roc1|Ric-like, expressed in many tissues|ras-like protein expressed in many tissues|ras-like without CAAX protein 1 protein-coding 1316971 RIT2 Ras-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM] 11703925,17474147,19734545,20379614,20489179,8824319,8918462,10712923,16157584,16122393,15489334,12934100,12477932,12099688,10545207 6014 NM_002930,AC025480,AC100779,CH471088,AF493922,AK313823,AY563951,BC018060,U71204,U78164,U78166,Y07565,AC091169 NP_002921,EAX01432,AAM12636,BAG36558,AAS75332,AAH18060,AAB42214,AAB64245,AAB64247,CAA68850,Q99578 Hs.464985 RIBA|RIN|ROC2 GTP-binding protein Rit2|GTP-binding protein Roc2|Ric-like, expressed in neurons|ras-like protein expressed in neurons|ras-like without CAAX protein 2 protein-coding 1320101 RLBP1 retinaldehyde binding protein 1 The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq] 1599618,1599620,1580863 20801516,9326942,19165527,18344446,18317528,17652763,17286855,17249612,17065479,15953459,15865448,15234312,14744877,15489334,14718298,12536149,12536144,12477932,11868161,11453974,11329013,11176989,10654176,10102299,10102298,9541407,9068383,8889548,8698076,7929238,3198595,1733864,20591486,19846785,20696998 1599618,1599620 6017 NM_000326,NG_008116,AC124068,CH471101,L34219,AK312457,BC004199,BF940774,BG205561,BM704704,BM921294,BX490622,DQ980611,J04213 NP_000317,EAX02038,AAA65123,BAG35364,AAH04199,AAA60251,P12271 Hs.1933 CRALBP|MGC3663 cellular retinaldehyde-binding protein|cellular retinaldehyde-binding protein-1|retinaldehyde-binding protein 1 protein-coding 1602646 RLBP1L1 retinaldehyde binding protein 1-like 1 18271718,16802092,16344560,14702039,12477932,21116278,19651769,20379614,17207965 157807 NM_173519,AC013543,AC023866,AC025133,AC090094,CH471068,AF445194,AK091641,AK094567,AK125153,AK313040,AY094971,BC042617,BC048992,CR591744,CR599613,DA217517,BK006899 NP_775790,EAW86838,EAW86839,AAP97323,BAG35872,AAM15733,AAH42617,Q8IUQ0,DAA06536,ADQ33027 Hs.591874 CRALBPL|FLJ37248|MGC34646|RLBP1L1 cellular retinaldehyde-binding protein-like|clavesin-1|retinaldehyde binding protein 1-like 1|retinaldehyde-binding protein 1-like 1 protein-coding 1604529 RLBP1L2 retinaldehyde binding protein 1-like 2 14702039,12477932,19651769 134829 NM_001010852,AL591428,CH471051,AK095527,BC101376,BC101377,AK295158,BK006900 NP_001010852,CAI12305,CAI12306,CAI12307,EAW48160,EAW48161,EAW48162,BAG53077,AAI01377,AAI01378,Q5SYC1,BAG58172,DAA06537 Hs.486361 C6orf212|C6orf213|MGC120572|RLBP1L2|bA160A10.4 OTTHUMP00000017122|clavesin-2|retinaldehyde binding protein 1-like 2|retinaldehyde-binding protein 1-like 2 protein-coding 1313242 RLF rearranged L-myc fusion 1580863 16696853,8545128,17081983,16710414,15489334,15231748,12477932,10545207,1649386,14597674,1851085 6018 NM_012421,AL050341,AL356424,AL512599,AL929567,CH471059,AB209099,AK307662,BC113666,BM542854,U22377 NP_036553,CAB81608,CAI21999,CAI11028,CAH71081,EAX07236,BAD92336,AAI13667,AAC50396,Q13129,Q59GL0,ADR83298 Hs.205627 MGC142226|ZN-15L|ZNF292L Zn-15 related|rearranged L-myc fusion gene protein|rearranged L-myc fusion sequence|rearranged l-myc fusion sequence|zinc finger protein Rlf|zn-15-related protein protein-coding 1603981 RLFP rearranged L-myc fusion pseudogene 8545128 57008 NG_013277,AC027613,U22379,NG_025154 RLFP pseudo 1352466 RLIM ring finger protein, LIM domain interacting The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 18029348,20211142,11013082,19164295,14702039,12874135,12477932,11882901,10508479,10431247,19117995,19549727,17437998,19945382 51132 NM_016120,NM_183353,AJ271670,AL513007,CH471104,AF086467,AF155109,AI968256,AK001334,AK098789,AK123088,AK124877,AK127880,AK314760,AL712605,BC013357,BF686000,BG259627,BX648613,NG_013258 NP_057204,NP_899196,CAC14228,CAI41712,EAW98639,EAW98640,AAD42875,BAA91632,BAG37298,AAH13357,Q9NVW2,ABM84426,ABM87497 Hs.653288 DKFZp686N06224|FLJ25923|FLJ41093|FLJ42887|FLJ45986|MGC15161|NY-REN-43|RNF12 E3 ubiquitin-protein ligase RLIM|E3 ubiquitin-protein ligase RNF12|LIM domain-interacting RING finger protein|OTTHUMP00000023575|R-LIM|RING finger LIM domain-binding protein|renal carcinoma antigen NY-REN-43|ring finger protein 12|ring zinc finger LIM domain binding protein|ring zinc finger protein NY-REN-43antigen protein-coding 1344895 RLN1 relaxin 1 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. This encoded protein is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds; however, their exact cleavage sites have not been described. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. This gene has multiple polyadenylation sites. There are multiple alternatively spliced transcript variants described for this gene but their full length nature is not known yet. [provided by RefSeq] 1580863 19695764,19833242,20023247,20237496,6298628,19481729,19467703,19329780,19178384,19101597,18718015,18035445,17804602,17509748,17363522,16303766,16172427,15956746,15956736,15956731,15956702,15956701,15956699,15695505,15489334,15164053,12865351,12477932,11809971,10750025,10601981,9730618,9346823,8800640,8735594,7958621,7829601,6548703,6548702,3963064,2076464,2040595,2005217,1656049,1572287,20655530,20332215 6013 A07364,AF104934,AL135786,CH471071,S82681,S83200,V00577,V00578,AF057705,BC005956,X00949,A06846,A06926,A17329,NM_006911 NP_008842,CAA00658,AAD21967,CAC04179,EAW58767,EAW58768,EAW58769,AAD14429,CAA23838,CAA23839,AAH05956,CAA25461,P04808,CAA00599,CAA00603,CAA01325,ABM84228,ABM87467 Hs.368996 H1|RLXH1|bA12D24.3.1|bA12D24.3.2 preprorelaxin H1|prorelaxin H1|relaxin H1 protein-coding 1348053 RLN2 relaxin 2 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. The active form of the encoded protein consists of an A chain and a B chain but their cleavage sites are not definitely described yet. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq] 1580863 15649866,20023247,20237496,6548702,19289144,19073841,18723073,18474430,18434306,18345514,18236174,17653089,17616862,17363522,16877360,16580233,16049981,15967869,15956746,15956728,15956727,15956719,15956711,15956696,15489334,15164053,15070778,12614168,12590922,12506116,12477932,12198562,11313185,10750025,10601981,9730618,8735594,7958621,7916973,7829601,6548703,2076464,2040595,2005217,1656049,1572287,18577758,12036966 6019 NM_134441,NM_005059,AF104935,AL135786,CH471071,BC126415,BC126419,X00948,A06925,A17315 NP_604390,NP_005050,AAD21961,CAC04177,EAW58770,EAW58771,AAI26416,AAI26420,CAA25460,P04090,CAA00602,CAA01324,ADR83496,CAO03586 Hs.127032 H2|RLXH2|bA12D24.1.1|bA12D24.1.2 OTTHUMP00000196912|prorelaxin H2|relaxin H2|relaxin, ovarian, of pregnancy protein-coding 1345239 RLN3 relaxin 3 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. The protein encoded by this gene is a member of the relaxin family. The active form of the encoded protein consists of an A chain and a B chain but their cleavage sites are not definitely described yet. It may play a role in neuropeptide signaling processes. [provided by RefSeq] 1580863 19152634,18434306,16365033,15956730,15956686,15845619,15465925,14522968,14522967,12975309,12686464,12506116,12477932,11689565,15649866,19778557,20023247,2834384,12036966 117579 NM_080864,AC022098,CH471106,AB076563,AF447451,AY358181,BC110069,BC140935 NP_543140,EAW84388,BAC53758,AAL40345,AAQ88548,AAI40936,Q8WXF3 Hs.352155 H3|RXN3|ZINS4|insl7 insulin-like 7|insulin-like peptide 7|insulin-like peptide INSL7|prorelaxin H3|relaxin-3 protein-coding 1605284 RLTPR RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 19846667,15588584,12477932 146206 NM_001013838,AC009095,AC010530,AB113647,AK090421,AL832446,BC043154,FJ026014 NP_001013860,BAD26751,BAC03402,AAH43154,ACI49710,Q6F5E8,Q86XL4,Q8NF58,AAI72249 Hs.611432 CARMIL2|CARMIL2b|LRRC16C RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein|RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein|leucine rich repeat containing 16C|leucine-rich repeat-containing protein 16C protein-coding 1349425 RMD1 rippling muscle disease 1 7936247 6022 1321710 RMI1 RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM] 737633 15489334,15342556,15164053,14702039,12477932,12973351,15889139,20445207,19432957,18390547,17900800,17728255,17081983,16595695,16537486,15775963,20826342,20339536,19861517,19945966,20347428 737633 80010 NM_024945,AL354733,AL732446,CH471089,AJ420435,AK022950,BC020606,BC032494,BC039999,BC044571,BC053549,BC064937,BP327553,DN997105 NP_079221,CAI13575,CAI13576,EAW62682,EAW62683,BAB14325,AAH20606,AAH32494,AAH39999,AAH53549,AAH64937,Q9H9A7 Hs.726327 BLAP75|C9orf76|FLJ12888|RP11-346I8.1 BLM-Associated Polypeptide, 75 kDa|BLM-associated protein 75 kDa|BLM-associated protein of 75 kDa|FAAP75|OTTHUMP00000021565|chromosome 9 open reading frame 76|homolog of yeast RecQ-mediated genome instability 1 (RMI1)|recQ-mediated genome instability protein 1 protein-coding 1319942 RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) 16344560,15489334,14702039,14574404,12477932,20379614,20877624 55005 NM_017909,AL590413,AL590543,CH471051,AK000634,AK026480,AK292339,BC012081,BC070271,BC106065,BC119683,BG754516,DA747450 NP_060379,CAI13588,CAI13594,CAI13595,CAI10940,EAW47746,EAW47747,EAW47748,EAW47749,BAA91299,BAB15490,BAF85028,AAI06066,AAI19684,Q5SZ82,Q9H5X7,Q9NWS8,AAH12081 Hs.486835 C6orf96|FLJ20627|MGC117362|MGC149570|MGC88260|RMD1|bA351K16|bA351K16.3 OTTHUMP00000017431|OTTHUMP00000017432|chromosome 6 open reading frame 96|required for meiotic nuclear division protein 1 homolog protein-coding 1604311 RMND5A required for meiotic nuclear division 5 homolog A (S. cerevisiae) 17467196,17452337,15815621,15489334,15231748,14702039,12477932,17207965 64795 NM_022780,AC064848,CH471053,AK022815,AK025448,AK303113,AL050139,AL832022,BC012165,BC047668,BU620245,CR604908 NP_073617,AAX88863,EAW99442,EAW99443,EAW99445,BAB14257,BAB15135,BAG64219,AAH12165,AAH47668,Q9H871,ACE87157,ACE86476,ADQ33185 Hs.75277 CTLH|FLJ12753|FLJ13910|FLJ21795|MGC78451|RMD5|p44CTLH C-terminal to LisH motif, 44 kDa|protein RMD5 homolog A protein-coding 1604317 RMND5B required for meiotic nuclear division 5 homolog B (S. cerevisiae) 19690564,16189514,15862967,15489334,15231748,14702039,12975309,12477932 64777 AC136632,CH471165,AK025971,AK093481,AK093622,AK094065,AK122692,AK125337,AL137381,AL713670,AY359092,BC009911,CR598018,CR599104,CR607362,CR609872,CR616716,DQ494789,NM_022762 NP_073599,EAW53849,EAW53850,BAB15303,BAG52727,BAC04276,BAG54186,CAH56381,CAD28476,AAQ89450,AAH09911,ABF50942,Q659D3,Q8N9Q5,ACE87096,ACE86421,Q96G75 Hs.727579 DKFZp434K0926|FLJ22318 OTTHUMP00000223984|protein RMD5 homolog B protein-coding 1349985 RMRP RNA component of mitochondrial RNA processing endoribonuclease Mitochondrial RNA-processing endoribonuclease cleaves mitochondrial RNA complementary to the light chain of the displacement loop at a unique site (Chang and Clayton, 1987 [PubMed 3582365]). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA, not a protein.[supplied by OMIM] 19701182,18978468,18804272,18627050,18553549,18540246,17937437,17701897,17489853,16838329,16832578,16254002,16252239,16244706,12107819,11940090,11207361,3582365,1623519,10352175,15096576 6023 DW422801,DW423815,NG_017041,NR_003051,AF334829,AL357874,M29916,AA593275 Hs.587502 CHH|NME1|RMRPR|RRP2 miscrna 2298930 RMST rhabdomyosarcoma 2 associated transcript (non-protein coding) 14702039,12082533 196475 NR_024037,AC018659,AF429305,AF429306,AK056164,AC007351 Hs.652568 NCRMS|NCRNA00054 miscrna 2881181 RN18S1 RNA, 18S ribosomal 1 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes an 18S rRNA. 20056613,3689320,8972871 100008588 AL592188,NR_003286,U13369 rrna 2794510 RN18S2P RNA, 18S ribosomal 2, pseudogene 12815422,9847074 359724 AC010970,NG_002801 pseudo 2881182 RN28S1 RNA, 28S ribosomal 1 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes a 28S rRNA. 11181995,17803354,20056613,3689320,8972871 100008589 AL592188,NR_003287,U13369 rrna 2793635 RN5-8S1 RNA, 5.8S ribosomal 1 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes a 5.8S rRNA. 3689320,8972871 100008587 AL592188,NR_003285,U13369 rrna 2303879 RN5S1 RNA, 5S ribosomal 1 100169751 NR_023363,AL713899 rrna 2303870 RN5S10 RNA, 5S ribosomal 10 100169761 NR_023372,AL713899 rrna 2303869 RN5S11 RNA, 5S ribosomal 11 100169762 NR_023373,AL713899 rrna 2303868 RN5S12 RNA, 5S ribosomal 12 100169763 NR_023374,AL713899 rrna 2303867 RN5S13 RNA, 5S ribosomal 13 100169764 NR_023375,AL713899 rrna 2303866 RN5S14 RNA, 5S ribosomal 14 100169765 NR_023376,AL713899 rrna 2303865 RN5S15 RNA, 5S ribosomal 15 100169766 NR_023377,AL713899 rrna 2303864 RN5S16 RNA, 5S ribosomal 16 100169767 NR_023378,AL713899 rrna 2303863 RN5S17 RNA, 5S ribosomal 17 100169768 NR_023379,AL713899 rrna 1342614 RN5S1@ RNA, 5S cluster 1 4437633 6025 2303878 RN5S2 RNA, 5S ribosomal 2 100169753 NR_023364,AL713899 rrna 1353418 RN5S2@ RNA, 5S cluster 2 7956368 6026 2303877 RN5S3 RNA, 5S ribosomal 3 100169754 NR_023365,AL713899 rrna 1353780 RN5S3@ RNA, 5S cluster 3 7736795 6027 2303876 RN5S4 RNA, 5S ribosomal 4 100169755 NR_023366,AL713899 rrna 2303875 RN5S5 RNA, 5S ribosomal 5 100169756 NR_023367,AL713899 rrna 2303874 RN5S6 RNA, 5S ribosomal 6 100169757 NR_023368,AL713899 rrna 2303873 RN5S7 RNA, 5S ribosomal 7 100169758 NR_023369,AL713899 rrna 2303872 RN5S8 RNA, 5S ribosomal 8 100169759 NR_023370,AL713899 rrna 2303871 RN5S9 RNA, 5S ribosomal 9 100169760 NR_023371,AL713899 rrna 1345130 RN7SK RNA, 7SK small nuclear 20816986,18483222,17381310,16362050,15994294,14627702,11713533,11713532,8139910,6548262,2443710,1721058,1646389,954090,12832472,17643375,20201073,20471949 125050 NR_001445,AL162581,X05490,X04236 7SK rna, 7sk, nuclear snrna 1351215 RN7SL1 RNA, 7SL, cytoplasmic 1 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL1, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM] 18067920,17881443,15667936,12244299,12086622,6084597 6029 NR_002715,AL139099,X04248 7L1a|7SL|RN7SL|RNSRP1 scrna 1346835 RN7SL2 RNA, 7SL, cytoplasmic 2 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL2, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM] 6084597 378706 NR_027260,AL627171,X04249,X02067 7L1C|7L30.1|7SL1c|RNSRP2 scrna 1343539 RN7SL3 RNA, 7SL, cytoplasmic 3 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL3, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM] 15667936,6084597 378707 NG_011406,AL627171,X04251 7L30.2|RNSRP3 pseudo 1346682 RN7SLP1 RNA, 7SL, cytoplasmic, pseudogene 1 6084597 6030 NG_002425,AC090950,X04250 7L28|RN7SLP1 pseudo 1343363 RN7SLP2 RNA, 7SL, cytoplasmic, pseudogene 2 6084597 6031 NG_002426,AL353733,X04252 7LEM1|RN7SLP2 pseudo 1344110 RN7SLP3 RNA, 7SL, cytoplasmic, pseudogene 3 6084597 6032 NG_002427,AC000029,X04253 7L7|RN7SLP3 pseudo 1349865 RN7SLP4 RNA, 7SL, cytoplasmic, pseudogene 4 6084597 6033 NG_002428,AC002454,CH236949,X04254 7L23|RN7SLP4 pseudo 1351039 RN7SLP5 RNA, 7SL, cytoplasmic, pseudogene 5 6084597 6034 NG_002429,AC007384,CH236947,X04255 7L63|RN7SLP5 pseudo 1320822 RNASE1 ribonuclease, RNase A family, 1 (pancreatic) This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580863 19156888,8049276,18029348,18495155,18219569,17705507,17627168,17350650,17234723,17224235,17109515,16780873,16751256,16738129,16597833,16114055,16054567,15528350,15489334,12939146,12626415,12477932,12237131,12210760,12022038,11848924,11591351,11412105,11342552,11264578,11021969,10632727,9311977,8588814,8280059,7649283,7492594,6201087,3202829,2383019,2049798,1741299,1587793 6035 NM_198235,NM_198234,NM_198232,AL133371,CH471078,DQ494867,X62946,X79235,AK098375,AK129871,AK312100,AV710596,BC005324,BC022882,BF106121,BG539567,BI599530,BI753463,BI760598,BM007311,NM_002933,BM919747,BP385178,CB993343,CD703706,CR450318,CR593433,CR595949,CR600644,S79281,AI400223 NP_002924,NP_937878,NP_937877,NP_937875,EAW66437,EAW66438,ABF00144,CAA44718,CAA55817,BAG35036,AAH05324,AAH22882,CAG29314,AAB35096,P07998 Hs.623499,Hs.78224 MGC12408|RIB1|RNS1 HP-RNase|RIB-1|RNase 1|RNase A|RNase upI-1|ribonuclease 1|ribonuclease A|ribonuclease pancreatic protein-coding 1347818 RNASE10 ribonuclease, RNase A family, 10 (non-active) 15676279,12920233,12477932 338879 NM_001012975,AL355075,CH471078,AK296766,AY665805,BC133002,BC133028 NP_001012993,EAW66457,BAG59346,AAV87183,AAI33003,AAI33029,Q5GAN6 Hs.451057 RNASE9 ribonuclease 10|ribonuclease-like protein 10 protein-coding 1602837 RNASE11 ribonuclease, RNase A family, 11 (non-active) 15676279,15489334,14702039,12975309,12477932 122651 HC007256,HC044637,NM_145250,AL163195,CH471078,CS072280,AI809974,AK098687,AK292348,AK314065,AY358794,AY665806,BC025410,BX161458,CB995247 CBH19433,CBH30648,NP_660293,EAW66455,EAW66456,CAI93418,BAC05378,BAF85037,BAG36768,AAQ89154,AAV87184,AAH25410,CAD61920,Q5GAN5,Q8TAA1 Hs.112761 C14orf6 OTTHUMP00000028263|OTTHUMP00000164013|OTTHUMP00000164014|OTTHUMP00000164016|RNase 11|probable ribonuclease 11|ribonuclease 11 protein-coding 1353641 RNASE12 ribonuclease, RNase A family, 12 (non-active) 15676279,12477932 493901 NM_001024822,AL163195,AW274139,AY665807,BC130347,BC130349 Q5GAN4,NP_001019993,AAV87185,AAI30348,AAI30350,ADR82836 Hs.112761 ribonuclease-like protein 12 protein-coding 1344390 RNASE13 ribonuclease, RNase A family, 13 (non-active) 15676279,12477932 440163 NM_001012264,AL161668,AY665808,BC044831 AAH44831,Q5GAN3,NP_001012264,AAV87186 Hs.666729 ribonuclease 13|ribonuclease-like protein 13 protein-coding 1349318 RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 1580863 19717523,2734298,12855582,19115260,19014520,18636464,18195069,17965582,17927842,17641730,17351112,16428483,16014847,15755456,15528350,15489334,15356558,12606041,12578357,12477932,11959927,11916383,11876642,11311552,11282395,11154698,11102386,10741866,9620664,9450956,8759319,8471426,7947762,7547911,3926759,3458170,3182786,3166997,2745977,2591744,2387583,1587793,1577491,1464733,20570966 6036 AF294007,AF294008,AF294009,AF294010,AF294011,AF294012,AF294013,AF294014,AF294015,AF315825,AF316619,AJ408458,AL355922,CH471078,X16546,X55987,NM_002934,BC093678,BC093680,BC096059,M24157,M28129,M30510,X55988 NP_002925,AAG31577,AAG31578,AAG31579,AAG31580,AAG31581,AAG31582,AAG31583,AAG31584,AAG31585,AAK07563,CAC27640,EAW66435,CAA34546,CAA39459,AAH93678,AAH93680,AAH96059,AAA52337,AAA50284,AAC82505,CAA39460,P10153 Hs.728 EDN|RNS2 RNase 2|RNase UpI-2|eosinophil-derived neurotoxin|non-secretory ribonuclease|ribonuclease 2|ribonuclease US protein-coding 1352667 RNASE3 ribonuclease, RNase A family, 3 (eosinophil cationic protein) 1580863 20307883,19566743,20523065,17885861,3520144,2745977,10706854,19542456,19476022,19450231,19366593,19284504,19133919,19014520,18716399,18593710,18345486,18293932,18087674,17944807,17927842,17852809,17804567,17726151,17675527,17587163,17573858,17507019,17362255,17250693,17223693,17088327,16879306,16014847,16010966,15928844,15489334,15317478,15295703,15007353,14630983,12974194,12530121,12524255,12477932,12356310,12100059,11959927,11552948,11404391,11102386,11034418,10903870,10606511,10336457,3458170,2501794,2473157,2387583,1577491,1464733,18657051,19189375,19521893,19639743,19692640,19717523,19760211,20089176,20170318,20534163 6037 AF294019,AF294020,AF294021,AF294022,AF294023,AF294024,AF294025,AF294026,AF441204,AF441205,NM_002935,AF441206,AL133371,CH471078,X16545,X55990,BC096060,BC096061,BC096062,BX280390,M28128,X15161 NP_002926,AAG31589,AAG31590,AAG31591,AAG31592,AAG31593,AAG31594,AAG31595,AAG31596,AAL35279,AAL35280,AAL35281,EAW66436,CAA34545,CAA39462,AAH96060,AAH96061,AAH96062,AAA50283,CAA33251,P12724 Hs.73839 ECP|RNS3 RNase 3|cytotoxic ribonuclease|eosinophil cationic protein|ribonuclease 3 protein-coding 736007 RNASE4 ribonuclease, RNase A family, 4 The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq] 1580863 7742370,15489334,14702039,12477932,11752456,9878400,9366257,8223579,7501448,3467790,20532202 6038 NM_002937,NM_194431,AL163636,CH471078,U36775,AK092422,BC015520,BX247985,BX248010,CB051790,CR597178,CR622207,CR623403,D37931 NP_002928,NP_919412,EAW66448,AAA96750,BAG52550,AAH15520,CAD62319,CAD62338,BAA07150,P34096,Q53XB4 Hs.283749 MGC9306|RNS4 OTTHUMP00000164023|RNase 4|ribonuclease 4 protein-coding 1353772 RNASE6 ribonuclease, RNase A family, k6 1580863 17207965,8836175,15676279,15489334,12477932,9647635,16169070 6039 NM_005615,AL133371,CH471078,U64998,AI151384,AK313580,BC020848,CR456965 NP_005606,EAW66440,EAW66441,EAW66442,AAC51848,BAG36350,AAH20848,CAG33246,ADQ32201,Q6IB39,Q93091 Hs.23262 RNS6|RNasek6 ribonuclease K6 protein-coding 1344446 RNASE7 ribonuclease, RNase A family, 7 RNASE7 is a member of the RNase A superfamily that has broad-spectrum antimicrobial activity and ribonuclease activity (Harder and Schroder, 2002 [PubMed 12244054]; Zhang et al., 2003 [PubMed 12527768]).[supplied by OMIM] 1580863 20668470,12244054,19366593,16344560,15676279,15489334,12975309,12527768,12477932,19262607,19641608,19919305 84659 NM_032572,AL161668,CH471078,AI150610,AJ131212,AJ306608,AJ306609,AJ306610,AK292697,AY170392,AY359097,BC074960,BC112334,DB153740 NP_115961,EAW66418,EAW66419,CAC20410,CAC84462,CAC84457,CAC84458,BAF85386,AAO12510,AAQ89455,AAH74960,AAI12335,Q9H1E1 Hs.525206 MGC133220 RNase 7|SAP-2|ribonuclease 7|skin-derived antimicrobial protein 2 protein-coding 1353668 RNASE8 ribonuclease, RNase A family, 8 1580863 11861908,17116644,12477932 122665 NM_138331,AF473854,AL161668,CH471078,BC137537,BC137538 NP_612204,AAL89644,EAW66417,AAI37538,AAI37539,Q8TDE3 Hs.553572 RNase 8, placental|ribonuclease 8 protein-coding 1343484 RNASE9 ribonuclease, RNase A family, 9 (non-active) 18992174,15974301,15676279,12920233,12508121,12477932 390443 NM_001110359,NM_001110361,AL163195,AF382949,AY665804,AY907670,BC130311,BC130313,EF061296,EF061297,NM_001110357,NM_001110358,NM_001001673,NM_001110356,NM_001110360,EF061298,EF061299,EF061300,EF061301,EF061302,EF061303,EF061304,EU414264 NP_001103827,NP_001103830,NP_001103828,NP_001103829,NP_001103831,AAQ02792,AAV87182,AAX86045,AAI30312,AAI30314,ABP97451,ABP97452,NP_001001673,NP_001103826,ABP97453,ABP97454,ABP97455,ABP97456,ABP97457,ABP97458,ABP97459,ACA49544,P60153,Q6KG53,ADR83498 Hs.533972 HEL128|h461 ribonuclear enzyme|ribonuclease 9|ribonuclease-like protein 9 protein-coding 1319116 RNASEH1 ribonuclease H1 1580863 12473655,12036296,11856317,10497183,9894807,9512096,20877624,9799596,18337749,17964265,17028158,17028157,16303743,15815621,15489334,15205459,14960586,14702039,14506260,12667461,12477932,20843780 246243 NM_002936,AC108488,CH471053,AF039652,AF048994,AF048995,AJ224117,AK075490,AK096913,BC002973,BI553044,BT019670,CR541820,CR594242,CR596638,HQ205106,HQ205107,HQ205108,HQ205109,HQ205110,HQ205111,HQ205112,HQ205113,HQ205114,HQ205115,HQ205116,HQ205117,HQ205118,HQ205119,HQ205120,HQ205121,HQ205122,HQ205123,HQ205124,HQ205125,HQ205126,HQ205127,HQ205128,HQ205129,HQ205130,HQ205131,HQ205132,HQ205133,HQ205134,HQ205135,HQ205136,HQ205137,HQ205138,HQ205139,HQ205140,HQ205141,HQ205142,HQ205143,HQ205144,HQ205145 NP_002927,AAX82026,EAX01061,AAC09261,AAC78563,AAC78564,CAA11835,BAG52156,BAG53396,AAH02973,AAV38476,CAG46619,O60930,ABM83523,ABM86750,ADP90574,ADP90575,ADP90576,ADP90577,ADP90578,ADP90579,ADP90580,ADP90581,ADP90582,ADP90583,ADP90584,ADP90585,ADP90586,ADP90587,ADP90588,ADP90589,ADP90590,ADP90591,ADP90592,ADP90593,ADP90594,ADP90595,ADP90596,ADP90597,ADP90598,ADP90599,ADP90600,ADP90601,ADP90602,ADP90603,ADP90604,ADP90605,ADP90606,ADP90607,ADP90608,ADP90609,ADP90610,ADP90611,ADP90612,ADP90613 Hs.568006 H1RNA|RNH1 RNase H1|ribonuclease H type II|ribonuclease H1 protein-coding 1604714 RNASEH1P1 ribonuclease H1 pseudogene 1 12036296,11856317,9799596 284203 NG_004111,AC090774 RNASEH1|RNASEH1P|RNH1 pseudo 1345490 RNASEH1P2 ribonuclease H1 pseudogene 2 12036296 390766 NG_004110,AC098850 pseudo 1352107 RNASEH1P3 ribonuclease H1 pseudogene 3 12036296 199827 NG_001567,AL035414 pseudo 1316328 RNASEH2A ribonuclease H2, subunit A Of the multiple RNases H in mammals, RNase HI is the major enzyme and shows increased activity during DNA replication. It shows more homology to the RNase HII of Escherichia coli. [provided by RefSeq] 1580863 9789007,16845400,15489334,12477932,8889548,17846997,19015152,19139135 10535 NM_006397,AC020934,CH471106,AK315327,AY363912,BC011748,BE560339,BG825340,BM664190,CB240995,CR456841,CR596662,CR597970,CR600858,CR602067,CR602864,CR605262,CR614807,CR618002,CR619517,CR625632,CR626283,Z97029,NG_012662 NP_006388,EAW84313,BAG37728,AAQ64005,AAH11748,CAG33122,O75792,Q6IBG3,Q6UQL6,CAB09725 Hs.532851 AGS4|JUNB|RNASEHI|RNHIA|RNHL RNase H(35)|RNase H2 subunit A|RNase HI large subunit|aicardi-Goutieres syndrome 4 protein|ribonuclease H2 subunit A|ribonuclease H2, large subunit|ribonuclease HI large subunit|ribonuclease HI subunit A|ribonuclease HI, large subunit protein-coding 1606240 RNASEH2B ribonuclease H2, subunit B RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq] 19120481,19015152,18422679,17213182,16845400,16344560,15908569,15489334,15057823,14702039,12477932,9373149,8125298 79621 NM_024570,NM_001142279,NG_009055,AL137881,CH471075,AK021774,AK022667,AK124228,AK223340,AY764036,BC001397,BC005088,BC007332,BC010174,BC036744,BI837927,BX328027,BX330672,BX382357,CR602872,CR608889,CR621824,DB221997,DT216141 NP_078846,NP_001135751,CAI13913,EAX08863,EAX08864,BAB13892,BAD97060,AAX13343,AAH01397,AAH05088,AAH07332,AAH10174,AAH36744,Q05DR2,Q5TBB1,Q8N451 Hs.306291 AGS2|DLEU8|FLJ11712 Aicardi-Goutieres syndrome 2 protein|RNase H2 subunit B|deleted in leukemia 8 protein|deleted in lymphocytic leukemia 8|ribonuclease H2 subunit B|ribonuclease HI subunit B protein-coding 1604574 RNASEH2C ribonuclease H2, subunit C This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq] 20383146,19015152,17846997,16845400,15489334,14702039,12477932,9373149,8244390,8125298 84153 NM_032193,NG_008976,AF346605,AP001266,CH471076,AF312034,AF346606,AK024627,AK225131,AK297660,BC000831,BC023588,BC061891,BM921525,CR602154,L08647 NP_115569,AAO49176,EAW74433,EAW74434,EAW74435,AAL87739,AAO49177,BAB14937,BAG60026,AAH23588,Q8TDP1,ABM83203,ABM86403 Hs.718438 AGS3|AYP1|FLJ20974|MGC22934 RNase H1 small subunit|RNase H2 subunit C|aicardi-Goutieres syndrome 3 protein|ribonuclease H2 subunit C|ribonuclease HI subunit C protein-coding 3232389 RNASEH2CP1 ribonuclease H2, subunit C pseudogene 1 7633446,8244390 386608 AC006040,NG_011584 AYP1p1 pseudo 1604138 RNASEK ribonuclease, RNase K 16712791,17881363,12477932,11181995,19913121,20628086,16341674 440400 NM_001004333,AC040977,CH471108,AA633512,AA843796,AK289930,AM746459,BC032510,BC036317,BC051802,BC062705,BC070349,BC095436,CB160051,BM835723,BQ223829,CD176288,NR_037715,NR_037716 NP_001004333,EAW90275,BAF82619,CAN89245,AAH51802,AAH62705,AAH95436,Q502Z2,Q6P5S7 Hs.632232 MGC48891|MGC71993 17881363|RNase K|RNase kappa|ribonuclease kappa protein-coding 1346643 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq] 2292000,2291997,2291998,1599614,1580863 7514601,19267370,19252527,19223501,19088502,18767027,18676870,18676680,18575592,18566991,18436282,18295551,18289577,18189233,17908993,17407163,17400356,17307214,17237228,17234723,17224235,17200614,17150764,17115900,17020975,16944274,16869093,16627618,16537704,16235172,16234235,16203993,16166078,16156900,16114055,15981205,15908960,15849753,15824169,15714208,15534086,15330212,15107989,14695991,14570908,12915880,12653398,12624151,12590567,12477932,12415269,12167701,12145743,12118002,12073768,12034027,12022038,11941539,11799394,11585831,11333017,11063255,10708513,20875083,20410264,10454983,9862963,9856285,9497242,9366257,8910276,7688298,7680958,7539425,7514564,1565627,20564318,20576793,20588308,16344560,19170196,19625176,19692168,19760027,19851509,19853919,19961052,20086112,20331378 2292000,2291997,2291998,1599614 6041 NM_021133,NG_009024,AF172072,AL138776,CH471067,L10381,AK315231,BC090934,BC114433,BC115697,BQ003187,BU940316,BX097443,CB268440,CR627369,DQ352452,AW968304,BQ006347,DA127960 NP_066956,CAH71322,EAW91128,AAA18032,AAH90934,AAI14434,AAI15698,CAH10468,ABC74581,Q05823,Q1RLL8,Q5W0L2,Q6AI46 Hs.518545 DKFZp781D08126|MGC104972|MGC133329|PRCA1|RNS4 2',5'-oligoisoadenylate synthetase-dependent|2-5A-dependent RNase|2-5A-dependent ribonuclease|RNase L|interferon-induced 2-5A-dependent RNase|ribonuclease 4 2293407,2301800,2301801,2301802,2301835,2301894 PRSTS277_H,PRSTS427_H,PRSTS426_H,PRSTS428_H,PRSTS417_H,PRSTS418_H protein-coding 1605687 RNASEN ribonuclease type III, nuclear Members of the ribonuclease III superfamily of double-stranded (ds) RNA-specific endoribonucleases participate in diverse RNA maturation and decay pathways in eukaryotic and prokaryotic cells (Fortin et al., 2002 [PubMed 12191433]). The RNase III Drosha is the core nuclease that executes the initiation step of microRNA (miRNA) processing in the nucleus (Lee et al., 2003 [PubMed 14508493]).[supplied by OMIM] 4144851 10976766,15574589,17474147,18632581,19138993,19135890,19092150,19047128,18559093,17626073,17581865,17255951,17121874,17081983,16344560,15987463,15932881,15565168,15531877,15489334,14702039,14508493,12477932,12191433,10948199,10713462,15589161,19759829,20210522,20211803,20379614,20083228,20805302,20732906,20819778,20585341,20705240,20721975 4144851 29102 NM_013235,NM_001100412,AC008768,AC022417,AC106802,CH471118,AA917625,AB209501,AF116910,AF189011,AJ242976,AK001121,AK026563,AK308093,BC024261,BC041162,BC054003,BX647724,CR607257,CR613595,DB065470,HC879388,HD033097 NP_037367,NP_001093882,EAX10767,EAX10768,EAX10769,EAX10770,BAD92738,AAD29637,AAF80558,CAB45133,BAA91511,AAH41162,AAH54003,Q59FF9,Q9NRR4,CBM42910,CBV35643 Hs.97997 DROSHA|ETOHI2|HSA242976|RANSE3L|RN3|RNASE3L|RNASEN OTTHUMP00000220910|OTTHUMP00000220911|OTTHUMP00000220912|OTTHUMP00000220913|RNase III|drosha, double-stranded RNA-specific endoribonuclease|drosha, ribonuclease type III|nuclear RNase III Drosha|p241|putative protein p241 which interacts with transcription factor Sp1|putative ribonuclease III|ribonuclease 3|ribonuclease III, nuclear|ribonuclease type III, nuclear protein-coding 1320518 RNASET2 ribonuclease T2 This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq] 1580863 16712791,20526339,9192857,19525954,18543608,16620762,15809705,15489334,14702039,14574404,12477932,11821951,11314033,19382914,20601676 8635 AK124363,NG_016280,AL133458,AL159163,CH471051,AJ419865,AJ419866,AJ419867,AK001769,AK315467,BC001660,BC001819,BC019871,BC036282,BC039713,BC041056,BC051912,CB130245,CR592644,CR613072,CR621306,CR623299,U85625,NM_003730 CAI15001,NP_003721,CAI21597,CAI21598,CAI21600,EAW47511,EAW47512,EAW47513,EAW47514,EAW47515,EAW47516,EAW47517,EAW47518,EAW47519,CAD12030,CAD12031,CAD12032,BAG37854,AAH01660,AAH01819,AAH39713,AAH51912,AAC51363,O00584,Q5TCT1,Q5TCT2,Q8TCU1 Hs.529989 FLJ42372|RNASE6PL|RP11-514O12.3|bA514O12.3 OTTHUMP00000219255|OTTHUMP00000219415|OTTHUMP00000219416|OTTHUMP00000219417|OTTHUMP00000219421|ribonuclease 6|ribonuclease T2 protein-coding 1314903 RND1 Rho family GTPase 1 Members of the Rho GTPase family, such as RND1, regulate the organization of the actin cytoskeleton in response to extracellular growth factors (Nobes et al., 1998 [PubMed 9531558]).[supplied by OMIM] 1580863 16188938,9531558,11095956,10664463,18996843,17916560,16311049,15738000,15489334,12730235,12477932,11980706,11940653,11786539,11108845,12842009,15297673,19843518 27289 N79562,NM_014470,AC117498,AK124288,CH471111,AB040147,AF498967,AK292762,AL359573,BC026356,CR602286,CR604397,CR621792,Y07923 NP_055285,EAW58019,BAB17851,AAM21114,BAF85451,AAH26356,CAA69228,Q92730 Hs.124940 ARHS|FLJ42294|RHO6|RHOS GTP-binding protein|ras homolog gene family, member S|rho-related GTP-binding protein Rho6 protein-coding 1346063 RND2 Rho family GTPase 2 This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq] 8938427,12590651,16481321,16311049,16189514,15489334,14702039,12477932,12244061,11940653,11931639,9531558,8889548,1909153,12730235,12842009,14732713 8153 X95456,AC135721,CH471152,L78833,AB209778,AF498968,AK096367,AK290199,BC018096,BC094842,BC104986,BC104990,BT019394,BU687800,DB502558,NM_005440 NP_005431,EAW60919,EAW60920,AAC37595,BAD93015,AAM21115,BAF82888,AAH94842,AAI04987,AAI04991,AAV38201,CAA64726,P52198,Q59EN3 Hs.603111 ARHN|RHO7|RhoN GTP-binding protein Rho7|ras homolog gene family, member N|rho-related GTP-binding protein Rho7|rho-related GTP-binding protein RhoN protein-coding 1351005 RND3 Rho family GTPase 3 Members of the Rho family of Ras-related GTPases, such as ARHE, regulate the organization of the actin cytoskeleton in response to extracellular growth factors. Like Ras (MIM 190020), Rho family members appear to cycle between an inactive GDP-bound form and an active GTP-bound form. Three major regulators of Rho activity have been identified: RhoGDIs, which interact with the GDP-bound Rho proteins to keep them in a resting complex (see MIM 601925); GEFs, which promote GDP/GTP exchange leading to activation of Rho proteins (see MIM 601855); and GAPs, which stimulate GTP hydrolysis and return the activated Rho protein to its inactive form (see MIM 602680) (Nobes et al., 1998 [PubMed 9531558]).[supplied by OMIM] 8649376,9531558,19244113,19101510,18946488,18923151,18721871,18204440,18045987,17182035,17174923,16311049,15777789,15754346,15489334,12842009,12773565,12477932,12163169,11940653,8889548,12730235,15778465,19850923 390 NM_005168,AC074097,AC093738,CH471058,AF498969,AK298007,AK299731,AK309442,AK313224,AL702945,BC012513,BQ440721,BT006769,BX460517,CF127383,CR542038,CR542070,CR597613,CR607069,CR626467,S82240,X95282,X97758 NP_005159,AAY15014,AAX88953,EAX11524,EAX11525,EAX11526,EAX11527,EAX11528,AAM21116,BAG60312,BAG61629,BAG36035,AAH12513,AAP35415,CAG46835,CAG46867,AAB47133,CAA64603,CAA66352,P61587,Q4ZFY0,Q53RZ3,Q6FGN7,Q6FGR9,ABM81591,ABM81592,ABM84773,ABW03618 Hs.6838 ARHE|Rho8|RhoE|memB OTTHUMP00000162685|OTTHUMP00000204380|OTTHUMP00000204381|protein MemB|ras homolog gene family, member E|rho-related GTP-binding protein Rho8|rho-related GTP-binding protein RhoE|small GTP binding protein Rho8 protein-coding 1319543 RNF10 ring finger protein 10 The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq] 1580863 18541383,19549727,16341674,16335786,16344560,16169070,15489334,14702039,12477932,12168954,10697961,9039502,18941509 9921 NM_014868,AC063943,CH471054,AB027196,AK094011,AK097807,AK126274,AK301608,AK315558,AL389976,AL578551,BC016622,BC031596,BC101709,BC101715,BC143493,BM828423,BQ015862,BT006974,CR591689,CR597561,CR605344,D87451,DA103961,DB526099 NP_055683,EAW98200,EAW98201,EAW98202,EAW98203,EAW98204,BAA84708,BAG52797,BAG53531,BAG54301,BAG63094,CAB97533,AAH16622,AAH31596,AAI01710,AAI01716,AAP35620,BAA13392,Q8N5U6,AAP36359,ABM92251,ABM84731,BAG37934 Hs.442798 KIAA0262|MGC126758|MGC126764|RIE2 RING finger protein 10 protein-coding 1349364 RNF103 ring finger protein 103 The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. [provided by RefSeq] 1580863 15489334,14702039,12658376,12477932,11071867,9070305,18675248,18615712,15815621,10500182,19690564,16275323,16344560,8889548 7844 NM_005667,AB052743,AC015971,CH471053,AK122978,AK314180,BC022477,BC035053,BC110333,BQ018198,CD109559,CR608249,D76444,AI150469,AW964704,CA312650,DA816879,NM_001198951,NM_001198952 NP_005658,BAB20900,AAX93079,EAW99446,EAW99447,BAG36861,AAH35053,AAI10334,BAA19739,O00237,ABZ92266,NP_001185880,NP_001185881 Hs.725984 HKF-1|KF-1|KF1|MGC102815|MGC41857|ZFP-103|ZFP103|hkf-1 E3 ubiquitin-protein ligase RNF103|KF-1|OTTHUMP00000203333|RING finger protein 103|Zinc finger protein expressed in cerebellum|zfp-103|zinc finger protein 103 homolog|zinc finger protein expressed in cerebellum protein-coding 1314582 RNF11 ring finger protein 11 The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq] 1580863 19549727,19690564,20676133,10673045,14755250,19131965,18724389,18615712,17917589,16925951,16344560,16123141,15489334,15231748,14562029,14559117,12477932,12107109,11042109,10810093,21076409 26994 CR615970,DB265274,DB564333,NM_014372,AL162430,CH471059,AA224090,AB024703,AF151881,AI817633,AK293047,AK313140,AL049294,BC020964,BC036670,BC047654 Q9Y3C5,AAH47654,NP_055187,CAI13140,EAX06830,EAX06831,BAA84683,AAD34118,BAF85736,BAG35959,AAH20964 Hs.309641 CGI-123|MGC51169|SID1669 RING finger protein 11 protein-coding 1320805 RNF111 ring finger protein 111 The protein encoded by this gene contains a RING finger domain, a motif known to be involved in protein-protein and protein-DNA interactions. The mouse counterpart of this gene (Rnf111/arkadia) has been shown to genetically interact with the transforming growth factor (TGF) beta-like factor Nodal, and act as a modulator of the nodal signaling cascade, which is essential for the induction of mesoderm during embryonic development. [provided by RefSeq] 1580863 11516970,11298453,11298452,18950738,19690564,19898560,20936779,19959502,18059455,17591695,17510063,16601693,15489334,15231748,14702039,14657019,12477932,19549727,21182207 54778 NM_017610,AC025918,AC092757,CH471082,AK095327,AK131304,AK131488,AL157474,AL832089,BC010369,BC020984,BC060862,BX538130,BX647259 NP_060080,EAW77554,EAW77555,EAW77556,EAW77557,EAW77558,EAW77559,EAW77560,EAW77561,EAW77562,BAC04531,BAD18471,BAD18633,CAB75669,AAH10369,AAH20984,AAH60862,CAD98031,Q6ZNA4 Hs.404423 ARK|DKFZp313E0731|DKFZp686H1966|DKFZp761D081|FLJ38008 Arkadia|E3 ubiquitin-protein ligase Arkadia protein-coding 68995 RNF112 ring finger protein 112 This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 61520,1580863 8660987,12477932,10574464,9806830,9096764,8889548 61520 7732 AC004448,AF054587,CH471212,AB026054,AI952967,AK226052,AK293508,AK309372,AK313844,BC038896,BC053989,BE297851,BM973713,NM_007148 NP_009079,AAC08584,EAW50891,EAW50892,BAA84698,BAG56992,AAH53989,Q7Z5V9,Q9ULX5,ABZ92256 Hs.189482 BFP|FLJ99413|ZNF179 RING finger protein 112|brain finger protein|zinc finger protein 179 protein-coding 1344435 RNF113A ring finger protein 113A 1580863 19690564,17081983,15772651,15489334,15345747,12477932,9224902 7737 CR618288,AC002477,CH471161,CS185534,AF086291,AK314778,AW001915,BC000832,BC020556,BT007175,CR595882,CR600330,CR608070,CR610769,NM_006978,X98253,NG_021227 NP_008909,AAB67605,EAW89841,CAJ42715,BAG37314,AAH00832,AAH20556,AAP35839,CAA66907,O15541 Hs.458365 Cwc24|RNF113|ZNF183 RING finger protein 113A|zinc finger protein 183 (RING finger, C3HC4 type) protein-coding 1352774 RNF113B ring finger protein 113B 19549727,19690564,15489334,15057823,12477932 140432 NM_178861,AL136300,CH471085,AF539427,AI935007,BC017585,BC025388 NP_849192,CAC42525,EAX08983,AAN33063,AAH17585,AAH25388,Q8IZP6,ABZ92100 Hs.296045 MGC26599|RNF161|ZNF183L1|bA10G5.1 RING finger protein 113B|zinc finger protein 183-like 1 protein-coding 1349716 RNF114 ring finger protein 114 1580863 18364390,15489334,14702039,12621547,12477932,11780052,9110174,8619474,16169070,20953189,11256614,19615732,19549727,19690564,17207965,20515446 55905 NM_018683,AL031685,CH471077,AF131742,AF265215,AK091976,AK097265,AK297188,AK301731,AK315638,BC013695,BC066919,BM830132,BT006795,BX640603,CR601634,CR620219,CR626018,CR626179 CAB46028,EAW75641,EAW75642,EAW75643,EAW75644,AAF75763,BAG59677,BAG63197,BAG38006,AAH13695,AAH66919,AAP35441,NP_061153,CAE45709,Q9Y508,ADQ31574 Hs.144949 PSORS12|ZNF313 RING finger protein 114|zinc finger protein 228|zinc finger protein 313 protein-coding 1313271 RNF115 ring finger protein 115 1580863 17462600,16925951,16710414,16288031,15489334,12972561,12477932,11591653,19690564,18819927,20019814,20237496,20379614 27246 AL160282,AL390725,CH471244,CQ834134,AF419857,AF542552,NM_014455,AK290749,AL079312,AL079314,BC054049,BC064903,CR596995,CR597781,CR620298 NP_055270,CAI13717,EAW71437,EAW71438,CAH05282,AAP97292,AAQ09535,BAF83438,CAB45280,AAH54049,AAH64903,Q9Y4L5,ABZ92156,ABZ92320,ACT64467,ACT64468 Hs.523550 BCA2|ZNF364 E3 ubiquitin-protein ligase RNF115|RING finger protein 115|rabring 7|zinc finger protein 364 protein-coding 2301489 RNF11P1 ring finger protein 11 pseudogene 1 100131695 NG_008707,AC019178 pseudo 1351517 RNF11P2 ring finger protein 11 pseudogene 2 170543 NG_001052,AL121582 RNF11B|bA280O9.1 ring finger protein 11b, pseudogene pseudo 1317294 RNF121 ring finger protein 121 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq] 16344560,15489334,15146197,14702039,12477932 55298 NR_024148,NR_024147,AP002490,CH471076,CQ834452,CQ834588,AI291325,AK001961,AK023139,AK094508,AL833638,BC009672,BC063680,BC093084,BC117273,BG328761,BG428563,BX463021,CN392009,CR457298,CR625242,DA209781,DA694800,NM_018320 NP_060790,EAW74807,EAW74808,EAW74809,EAW74810,EAW74811,CAH05441,CAH05509,BAA92002,BAB14423,BAG52880,AAH09672,AAH63680,AAI17274,CAG33579,Q9H920,Q9NUW5,AAI41465 Hs.368554 FLJ11099 RING finger protein 121 protein-coding 1352221 RNF122 ring finger protein 122 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. 16778963,16751333,16344560,15489334,14702039,12477932,10737800,8744354,7601449,19690564 79845 NM_024787,AC013603,CH471080,AK022588,AU124463,BC093884,BC101573,BF847236,CR623897,D38656 NP_079063,EAW63395,BAB14115,AAH93884,AAI01574,Q9H9V4 Hs.151237 FLJ12526|MGC126622 RING finger protein 122 protein-coding 1350672 RNF123 ring finger protein 123 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq] 1580863 17353931,16381901,16227581,15746103,15531880,15498874,15489336,15489334,15231748,14702039,12477932,11256614,11230166,11076863,17148452,20307617 63891 NG_011603,AC099668,AF370367,AK022627,AK026968,AK090632,AK096353,AK126883,AK308130,AK308607,AL136729,AL832034,AL832138,AL832344,AY744152,BC041145,BC057392,NM_022064,BC088801,BC112900,BC130632,CR618929,CR627051 NP_071347,AAQ15203,BAB14139,BAB15607,BAG53271,CAB66663,AAU93470,AAH41145,AAH57392,AAH88801,AAI30633,Q5XPI4,CAL37940 Hs.553723 DKFZp686C2222|FLJ12565|FP1477|KPC1|MGC163504 E3 ubiquitin-protein ligase RNF123|kip1 ubiquitination-promoting complex protein 1|ubiquitin ligase protein-coding 1315557 RNF125 ring finger protein 125 This gene encodes a novel E3 ubiquitin ligase that contains an N-terminal RING finger domain. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq] 1580863 8125298,17990982,17643463,15843525,15489334,14702039,12974981,12477932,9373149,8744354,19549727,17719635 54941 AC009831,AC011825,CH471088,AK000463,AK027134,AK225518,BC012021,BI666910,BM469263,NM_017831,BU500546 Q96EQ8,NP_060301,EAX01278,BAA91182,AAH12021 Hs.633703 FLJ20456|MGC21737|TRAC1 E3 ubiquitin-protein ligase RNF125|T-cell RING activation protein 1|T-cell ring protein identified in activation screen|TRAC-1 protein-coding 1314381 RNF126 ring finger protein 126 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq] 19549727,14667819,16189514,15489334,14702039,12477932,8744354 55658 AC004156,AC004449,CH471242,NM_194460,AK000559,AK289616,AL360265,BC001442,BC025374,BM558139,BM810439,CA440294,CR613869,CR624590,BG773910,NG_016713 NP_919442,AAC06149,EAW61167,EAW61168,EAW61169,EAW61170,EAW61171,EAW61172,EAW61173,BAA91254,BAF82305,CAB96178,AAH01442,AAH25374,O60372,Q9BV68,Q9NPN4 Hs.69554 FLJ20552|MGC1022|MGC14317 RING finger protein 126 protein-coding 1347456 RNF126P1 ring finger protein 126 pseudogene 1 737633 12477932 737633 376412 NR_002818,AC007114,BC033555 Hs.132299 pseudo 1603197 RNF128 ring finger protein 128 The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 19542455,19414743,18713730,18467499,17475842,17259178,15772651,15489334,14702039,14661020,12705856,12477932,18641297,19549727,17207965 79589 NM_024539,NM_194463,NG_012576,AL391315,AL606833,CH471120,AF394689,AK027169,AK074264,AK126553,BC012931,BC030951,BC036901,BC056677,BC063404,BI600046 ADQ32615,NP_078815,NP_919445,CAI39545,CAI39546,CAI39547,CAI41228,CAI41229,EAX02737,AAK77554,BAB15682,BAB85033,BAC86589,AAH30951,AAH56677,AAH63404,Q8TEB7 Hs.496542 FLJ23516|GRAIL E3 ubiquitin-protein ligase RNF128|OTTHUMP00000023788|gene related to anergy in lymphocytes protein protein-coding 1351392 RNF13 ring finger protein 13 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq] 1580863 18029348,18794910,16344560,16166738,15489334,14702039,12477932,9110174,8619474,8610176,20230530,19690564,16712791 11342 NM_007282,NM_183381,AC069216,AC117395,CH471052,AF037204,AF070558,AK090638,AK090771,AK313304,BC009781,BC009803,BC017878,BG030058,BG546092,BG708380,BM556246,BQ424702,BU077446,CB109037,CR456804,CR622736,CR624337,DA031838 NP_009213,NP_899237,EAW78858,EAW78859,EAW78860,EAW78861,EAW78862,EAW78863,AAC03769,AAC28641,BAG52202,BAG52224,BAG36109,AAH09781,AAH09803,AAH17878,CAG33085,O43567,Q05D66,ABZ92304 Hs.12333 FLJ93817|MGC13689|RZF E3 ubiquitin-protein ligase RNF13|RING finger protein 13|RING zinc finger protein protein-coding 1343865 RNF130 ring finger protein 130 The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. [provided by RefSeq] 16549277,15761153,15489334,13679316,12477932,10806348,16169070,18029348,19690564 55819 AC010285,AC026413,AC122713,CH471165,AB209800,AF155650,AK313089,AL515761,AY083998,BC017100,BC065244,BC082267,BC108306,BC113864,BC114472,BQ447530,BX404014,CR595365,CR609277,CR616243,CR624003,NM_018434 NP_060904,EAW53772,EAW53773,EAW53774,EAW53775,BAD93037,AAF67007,BAG35914,AAM08686,AAH17100,AAH65244,AAH82267,AAI08307,AAI13865,AAI14473,Q1WWL6,Q59EL1,Q86XS8,Q2HIY3 Hs.484363 G1RZFP|GOLIATH|GP|MGC117241|MGC138647|MGC99542 E3 ubiquitin-protein ligase RNF130|H-Goliath|g1-related zinc finger protein|goliath homolog protein-coding 1350521 RNF133 ring finger protein 133 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq] 20379614,15489334,14702039,12853948,12690205,12477932,9847074,8744354,19549727,17207965 168433 NM_139175,AC006463,CH236947,CH471070,AF447589,AK098524,BC022038,HC007258,HC044719 ACT64488,ACT64489,NP_631914,AAQ96858,EAL24341,EAW83577,AAM22872,BAC05321,AAH22038,Q8WVZ7,CBH19434,CBH30689,ADQ31679 Hs.126730 MGC27072 E3 ubiquitin-protein ligase RNF133 protein-coding 1313173 RNF135 ring finger protein 135 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 19291764,19017631,18391951,17632510,15489334,15334068,14702039,12696059,12477932,11468690,9373149,8125298,16344560,19484123,19881509,20546612,11002417 84282 NM_197939,NG_011701,AC138207,CH471147,AB470605,AI634044,AJ496729,AK122646,AK122709,AK226030,AK312979,AY598332,BC005084,BC082262,NM_032322,BC126420,BC126422,BC144143,DA878616,NM_001184992 NP_115698,NP_922921,EAW80286,BAG84604,CAD43140,BAG53638,BAG53681,BAG35816,AAT06743,AAH05084,AAI26421,AAI26423,Q8IUD6,NP_001171921 Hs.29874 L13|MGC13061|REUL|Riplet E3 ubiquitin-protein ligase RNF135|OTTHUMP00000163767|RIG-I E3 ubiquitin ligase|RING finger protein 135 protein-coding 1605080 RNF138 ring finger protein 138 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 20379614,16344560,16714285,16713569,16189514,15489334,14702039,12477932,8744354,19549727 51444 NM_016271,NM_198128,AC011825,CH471088,AF162680,AK023579,AK315761,AL133557,BC018107,BI461242,BI463820,BM564125,BT006878,BU662580,CR457150,CR594800,CR614694,DA752192,DB091985,DB452430,NM_001191324 NP_057355,NP_937761,EAX01280,EAX01281,EAX01282,EAX01283,AAD46623,BAB14614,BAG38114,CAB63712,AAH18107,AAP35524,CAG33431,Q8WVD3,ABM81670,ABM84840,NP_001178253 Hs.302408 HSD-4|MGC8758|NARF|STRIN E3 ubiquitin-protein ligase RNF138|NLK-associated RING finger protein|Nemo-like kinase-associated RING finger protein|hNARF protein-coding 1347730 RNF138P1 ring finger protein 138 pseudogene 1 737633 12477932 737633 379013 NR_001575,AC025777,BC040295 Hs.726654 pseudo 1315417 RNF139 ring finger protein 139 The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq] 2289870,1599629 10500182,12032852,9689122,17539022,17081983,17016439,15489334,14702039,12477932,8889548,19706601,19720873,20068067,19549727,19690564 2289870,1599629 11236 NM_007218,NG_012158,AC090198,AF064800,CH471060,CQ871298,AA455970,AF064801,AK001602,AK025043,AK098519,BC021571,BC064636,BI562637,BM677460,BM804626,CD171728,CR614013,CR622053 NP_009149,AAC39931,EAW92064,CAH56830,AAC39930,BAG50947,AAH21571,AAH64636,Q8WU17 Hs.726319 HRCA1|MGC31961|RCA1|TRC8 E3 ubiquitin-protein ligase RNF139|RING finger protein 139|multiple membrane spanning receptor TRC8|patched related protein translocated in renal cancer|translocation in renal carcinoma on chromosome 8 protein protein-coding 1605715 RNF14 ring finger protein 14 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Five alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq] 12772188,19345326,15572661,10085091,11322894,15831516,17919607,17510080,17110431,17082327,15489334,15231748,14702039,12477932,12163482,11673464,10320776,9853615,12612084,11779876,18029348,19549727,19690564 9604 NM_183400,BC126185,NM_183399,NM_004290,NM_183398,AK294262,AK295965,NM_183401,AC005740,CH471062,AA418072,AB015333,AB022663,AF060544,AK023698,AK023884,AK057868,AK129515,AW162926,BC144061,BX647955,CB997918,CD106708,CR456702,CR595278,CR605413,CR616865,BE042895,DB456366,DC358984,DC396586,DC402536,NM_001201365 NP_899646,NP_004281,NP_899645,BAH11715,BAH12231,NP_899648,EAW61894,EAW61895,EAW61896,EAW61897,BAA34792,BAA78677,AAD21842,BAG51217,BAG51234,NP_899647,AAI44062,CAG32983,Q9UBS8,AAI26186,NP_001188294 Hs.483616,Hs.597082 ARA54|FLJ26004|HFB30|HRIHFB2038|TRIAD2 E3 ubiquitin-protein ligase RNF14|androgen receptor associated protein 54|androgen receptor-associated protein 54|triad2 protein protein-coding 1350770 RNF141 ring finger protein 141 The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. 1580863 12477932,11672448,8889548,50862,15761153,15489334,12804569 50862 NM_016422,AC021914,CH471064,AF214680,AI356880,AI912940,AK289764,AK309367,AL598903,AL600289,BC018104,BC035089,BF970569,BG108453,BQ229248,BT006662,BU679024,BX647862,CB956484,CR599604 NP_057506,EAW68566,AAF30180,BAF82453,AAH18104,AAP35308,Q8WVD5 Hs.712894,Hs.44685 MGC8715|ZFP26|ZNF230 C3HC4-like zinc finger protein|RING finger protein 141|zinc finger protein 230 protein-coding 1343789 RNF144A ring finger protein 144A The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq] 1580863 12411495,20195266,20379614,10942595,16344560,15489334,12477932,10431818,8889548,8724849,19549727 9781 NM_014746,AC017076,AC068481,CH471053,AK293854,BC035051,BC050373,BM550396,BM931543,BQ219370,BQ423668,BQ427820,BQ574061,CD101678,CR590080,CR591595,D79983,DA234807 NP_055561,AAX82010,EAX01029,EAX01030,EAX01031,EAX01032,BAG57251,AAH50373,BAA11478,P50876,ABZ92280 Hs.22146 KIAA0161|RNF144|UBCE7IP4 OTTHUMP00000200443|UbcM4-interacting protein 4|probable E3 ubiquitin-protein ligase RNF144A|ubiquitin conjugating enzyme 7 interacting protein 4|ubiquitin-conjugating enzyme 7-interacting protein 4 protein-coding 1318869 RNF144B ring finger protein 144B 12477932,17207965,20615966,12853982,16427630,15489334,14702039,14574404,18821565,19690564,20300062,20379614,19549727 255488 NM_182757,AL138725,CH471087,AB076367,AJ420555,AK096832,AK302935,AL832329,BC063311,CR593698 ADQ32523,NP_877434,CAI15148,EAW55406,EAW55407,EAW55408,EAW55409,EAW55410,BAC02434,BAG53370,BAG64094,CAD38622,AAH63311,Q7Z419,ACE87487,ACE86800 Hs.148741 IBRDC2|KIAA0161|MGC71786|PIR2|bA528A10.3|p53RFP E3 ubiquitin-protein ligase RNF144B|IBR domain containing 2|IBR domain-containing protein 2|p53-inducible RING finger protein protein-coding 1602832 RNF145 ring finger protein 145 16303743,14702039,12477932,19820697 153830 AK126290,AL697229,CK821118,DC418555,NM_001199380,NM_001199381,NM_001199382,NM_001199383,NM_144726,AC134043,CH471062,AK056513,AK075101,AK098802,AK292854,AK308394,AK311433,AL831829,BC042684,BC044767,BX537635,BX640806,CR616646,AK294323,AK304228,AK304435 BAG54304,NP_001186309,NP_001186310,NP_001186311,NP_001186312,NP_653327,EAW61579,BAB71200,BAC11401,BAC05416,BAF85543,CAD38542,AAH42684,CAD97802,CAE45888,Q6MZY8,Q7Z3N5,Q8N783,Q8NC08,Q8NDT8,Q96MT1,BAH11735,BAH14139,BAH14185 Hs.349306 DKFZp686M11215|FLJ31951|FLJ44310 RING finger protein 145 protein-coding 1315124 RNF146 ring finger protein 146 1580863 19549727,19690564,18326623,16381901,15813938,15489336,15489334,14702039,14574404,12477932,11230166,11076863,16169070,15761153,19517271 81847 NM_030963,AL109939,CH471051,AJ315122,AJ420549,AK027436,AK027558,AK027776,AL136829,BC008235,CR533514,CR605085,CR616084 NP_112225,CAB76254,CAB76255,EAW48109,EAW48110,EAW48111,EAW48112,EAW48113,CAC85986,BAB55108,BAB55196,BAB55359,CAB66763,AAH08235,CAG38545,Q96T06,Q9NTX7,CAL37596,CAL38663 Hs.267120 DKFZp434O1427|RP3-351K20.1|dJ351K20.1 2610509H23Rik|OTTHUMP00000017163|RING finger protein 146|dactylidin protein-coding 1348165 RNF148 ring finger protein 148 1580863 15489334,14702039,12690205,12477932,8744354 378925 NM_198085,AC006463,CH236947,CH471070,AK058116,AK098654,BC029264 NP_932351,EAL24340,EAW83578,EAW83579,BAC05367,AAH29264,Q8N7C7 Hs.675191 MGC35222 OTTHUMP00000211456|RING finger protein 148|goliath-related E3 ubiquitin ligase 3-like protein-coding 1318240 RNF149 ring finger protein 149 737633,1580863 18029348,16381901,15815621,15489336,15489334,14702039,12477932,11076863,16344560,20686608 737633 284996 NM_173647,AC013722,AC073643,CH471127,CQ782963,AK074985,AK075141,AK129799,AY450390,BC019355,BC032328,BC045743,CR591001,CR621578,CR624747,DA383672 NP_775918,AAY15089,AAY14775,EAX01817,EAX01818,EAX01819,EAX01820,CAF86191,BAC11334,BAC11430,AAR21083,AAH19355,AAH32328,AAH45743,Q53SV6,Q8NC42,CAL37444 Hs.142074 DNAPTP2|FLJ90504 DNA polymerase-transactivated protein 2|E3 ubiquitin-protein ligase RNF149|OTTHUMP00000202985 protein-coding 1322589 RNF150 ring finger protein 150 19690564,15815621,15489334,14702039,12477932,10574462,20379614 57484 NM_020724,AC093905,AC096733,AC097475,CH471056,AB033040,AK130520,BC101992 NP_065775,EAX05090,BAA86528,BAC85369,AAI01993,Q9ULK6 Hs.659104 MGC125502 OTTHUMP00000220141|OTTHUMP00000220142|OTTHUMP00000220143|RING finger protein 150 protein-coding 1319576 RNF151 ring finger protein 151 737633 15489334,12477932 737633 146310 HC007260,NM_174903,AC005363,BC029501,BC113014 CBH19435,NP_777563,AAH29501,AAI13015,Q2KHN1 Hs.99354 MGC129921 RING finger protein 151 protein-coding 1313171 RNF152 ring finger protein 152 1580863 19240061,15489334,14702039,12477932,19690564 220441 NM_173557,AC105094,AC105183,CH471096,AK096495,AK122758,BC094004,BC111956 NP_775828,EAW63114,EAW63115,BAC04805,BAG53711,AAH94004,AAI11957,Q8N8N0 Hs.667457 FLJ39176|MGC138161 RING finger protein 152 protein-coding 1348356 RNF157 ring finger protein 157 1580863 19913121,20628086,20800603,14702039,12477932,11572484,20379614,19690564 114804 NM_052916,AC015801,AC018665,CH471099,AA932192,AB067504,AK055949,AK091467,BC042501,BI857136,BM474134,CX872674,BC004231 NP_443148,EAW89378,EAW89379,EAW89380,EAW89381,EAW89382,BAB67810,BAB71053,BAC03669,AAH04231,Q96PX1,Q9BTC5,AAI66675 Hs.500643 RING finger protein 157 protein-coding 1322590 RNF160 ring finger protein 160 1580863 19196968,20379614,20835226,14702039,12477932,10830953,9872452,19690564 26046 NM_015565,AL163248,AL163249,CH471079,AB018257,AF161350,AK001915,AK023499,BC007525,BC029371,BC031633,BC045726,BC140790,BC150284,BF059116,DB452437,AF129075,AF260011 NP_056380,CAB90429,CAB90430,EAX09935,EAX09936,EAX09937,BAA34434,AAF28910,BAA91976,BAB14589,AAH29371,AAI40791,AAI50285,O94822,Q05C47 Hs.288773 C21orf10|C21orf98|FLJ11053|KIAA0714|RNF160|ZNF294 OTTHUMP00000096472|RING finger protein 160|zinc finger protein 294 protein-coding 1343595 RNF165 ring finger protein 165 Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. 19690564,15722956,14702039,12477932,8889548,20379614 494470 NM_152470,AC015959,AC018931,CH471088,AK055997,AK074561,AK096648,AK122819,AK123883,AK127467,AW160725,BC012190,BK005135,BM680948 NP_689683,EAX01474,EAX01475,BAG53743,BAC86992,DAA05330,Q6ZSG1 Hs.501114 ARKL2 RING finger protein 165 protein-coding 1351592 RNF166 ring finger protein 166 737633,1580863 16344560,14702039,12477932,15489334,19549727,19690564 737633 115992 AI800509,BI911983,DA376321,NM_001171815,NM_001171816,NM_178841,AC138028,CH471184,AK057106,AK057201,AK290920,BC013948,BC017226,CR596749,CR598819,CR612154,CR620092,AK026860 NP_001165286,NP_001165287,NP_849163,EAW66781,EAW66782,EAW66783,EAW66784,EAW66785,EAW66786,BAG51865,BAB71380,BAF83609,AAH13948,AAH17226,Q96A37,ADR82770 Hs.513804 MGC14381|MGC2647 RING finger protein 166 protein-coding 1348849 RNF167 ring finger protein 167 RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM] 737633,1580863 19549727,19690564,17353931,16314844,15498874,15489334,14702039,12477932 737633 26001 NM_015528,AC004771,AC109333,CH471108,AK025329,AL050060,AL079315,AL834284,AY203930,AY960626,BC010139,BC013222,CR457340,CR590839,CR592240,CR593443,CR593641,CR595664,CR601513,CR604393,CR604711,CR606683,CR607187,CR611228,CR611752,CR613473,CR616232,CR617000,CR617213,CR596879 NP_056343,EAW90385,EAW90386,EAW90387,EAW90388,BAB15113,CAB43253,CAB45281,CAD38958,AAP34453,AAH10139,CAG33621,Q9H6Y7,Q9Y4L6 Hs.7158 5730408C10Rik|DKFZp566H073|LP2254|RING105 E3 ubiquitin-protein ligase RNF167 protein-coding 1347950 RNF168 ring finger protein 168 The complex repair response elicited by DNA double-strand breaks (DSBs) includes recruitment of several DNA repair proteins and ubiquitination of H2A-type histones (see MIM 142720). RNF168 is an E3 ubiquitin ligase critical for DSB repair (Stewart et al., 2009 [PubMed 19203578]).[supplied by OMIM] 737633 19690564,20016603,16499958,15489334,15231748,14702039,12477932,19203578,19203579,21041483,19500350,20075863,20080757,20081839 737633 165918 AK097068,BC029433,BC047483,CR603272,NM_152617,AC092933,AC117490,CH471191,AK054732,AK093113,BC017442,BC033791,NG_023425 NP_689830,EAW53649,EAW53650,EAW53651,BAB70801,BAC04060,AAH33791,Q8IYW5 Hs.250648 FLJ35794|FLJ39749 E3 ubiquitin-protein ligase RNF168 protein-coding 1602283 RNF169 ring finger protein 169 17081983,16964243,15302935,12056414,8889548 254225 NM_001098638,AP000560,AP001324,AB082522,BU735906,BX640750 NP_001092108,BAC02700,CAE45858,Q8NCN4,AAI69205 Hs.370145,Hs.725310 KIAA1991 RING finger protein 169 protein-coding 1321415 RNF17 ring finger protein 17 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. [provided by RefSeq] 1580863 12477932,11279525,10961928,19690564,14702039 56163 HC007262,HC044683,NM_031277,AL354798,AL391560,CH471075,AF285602,AF285603,AK001907,AK302405,AK302435,BC064847,BC146822,CD358307,CR618892,DB517763,BC037275,NM_001184993 CBH19436,CBH30671,NP_112567,CAI16633,CAI16636,CAM23326,CAI15247,CAI15248,CAI15249,EAX08347,EAX08348,AAK31981,AAK31982,BAA91972,BAH13698,BAH13707,AAH64847,Q5T2J8,Q5T2K0,Q5T6R1,Q9BXT8,AAI66669,NP_001171922 Hs.97464 FLJ11045|Mmip-2|SPATA23|TDRD4 RING finger protein 17|spermatogenesis associated 23|tudor domain containing 4|tudor domain-containing protein 4 protein-coding 1352237 RNF170 ring finger protein 170 737633,1580863 16344560,15489334,14702039,12477932,11230166,9373149,19690564 737633 81790 NM_030954,NM_001160223,NM_001160224,NM_001160225,NR_027668,NR_027669,AC009634,AC087533,CH471080,AA973979,AF209504,AK027748,AK090864,AK095625,AK225086,AK225568,AL136620,BC013422,BC032393,BC039461,BC044566,BC058289,BG910500,CR608052,CR610418,DA751961 NP_112216,NP_001153695,NP_001153696,NP_001153697,EAW63201,EAW63202,EAW63203,EAW63204,AAM92891,BAB55340,BAC03534,CAB66555,AAH13422,AAH32393,AAH39461,AAH44566,Q96K19,ACE87564,ACE86876 Hs.491626 DKFZp564A022|FLJ38306 RING finger protein 170|putative LAG1-interacting protein protein-coding 1348737 RNF175 ring finger protein 175 737633,1580863 15489334,12477932,19913121,20628086,14702039,21048031,19773279,17207965 737633 285533 NM_173662,AC020703,AC106865,CH471056,AK091509,BC034385,NG_016386 NP_775933,EAX04950,EAX04951,BAC03680,AAH34385,Q8N4F7,Q8NB61,ADQ32349 Hs.388364 FLJ34190 RING finger protein 175 protein-coding 1347772 RNF180 ring finger protein 180 16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,18363970,20379614 285671 NM_178532,NM_001113561,AC092360,CH471137,AK090756,AL832580,BC101277,BC101278,BC101279,BC101397,DA183707,DA809479,AC016623 NP_848627,NP_001107033,EAW51373,EAW51374,EAW51375,BAC03514,CAD89939,AAI01278,AAI01279,AAI01280,AAI01398,Q86T96,CAL38421 Hs.657843 MGC120326|MGC120328 E3 ubiquitin-protein ligase RNF180|OTTHUMP00000221819|RING finger protein 180 protein-coding 1602715 RNF181 ring finger protein 181 RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM] 12477932,11042152,9373149,8125298,19690564,18331836,17207965,16712791,15075326,19426595 51255 NM_016494,AC016753,CH471053,AF151072,AK222700,BC002803,CB131242,CR457165 NP_057578,AAY24343,EAW99504,EAW99505,AAF36158,BAD96420,AAH02803,CAG33446,Q9P0P0,ADQ31794 Hs.356187 HSPC238 E3 ubiquitin-protein ligase RNF181|OTTHUMP00000209531|OTTHUMP00000209532|hypothetical protein loc51255 protein-coding 1351673 RNF182 ring finger protein 182 737633,1580863 15489334,14702039,12477932,18029348,16344560,18298843,19690564 737633 221687 AK090576,AK098091,AK315528,BC030666,BC050030,AW731636,DA123125,DA803766,DB094450,DB176198,NM_001165032,NM_001165033,NM_001165034,NM_152737,AL138718,CH471087 BAC03481,BAG37909,AAH30666,AAH50030,Q8N6D2,ABM83364,ABM83370,ABM86574,ABM86575,NP_001158504,NP_001158505,NP_001158506,NP_689950,EAW55349,EAW55350 Hs.111164 FLJ40772|MGC33993 E3 ubiquitin-protein ligase RNF182|OTTHUMP00000215754|OTTHUMP00000215755|OTTHUMP00000215756|OTTHUMP00000215757|OTTHUMP00000215758|RING finger protein 182 protein-coding 1603182 RNF183 ring finger protein 183 16189514,15489334,14702039,12477932 138065 NM_145051,AL449305,CH471090,AK055759,AK091940,BC013036,BE463594 NP_659488,EAW87364,EAW87365,EAW87366,AAH13036,Q96D59,ABM83500,ABM86716 Hs.211374 FLJ31197|MGC4734 OTTHUMP00000215895|OTTHUMP00000215896|OTTHUMP00000215897|RING finger protein 183 protein-coding 1602840 RNF185 ring finger protein 185 16344560,15489334,15461802,14702039,12477932,19549727 91445 DA498404,DB134817,DQ296559,DQ296560,DQ296561,DQ296562,DQ296563,DQ296564,DQ296565,NR_024210,NM_152267,NR_024211,NM_001135825,NR_024212,AC002073,AC005005,CH471095,CQ834442,CQ834548,AA258379,AK027035,AK075154,AK095947,AK291236,AK297414,BC009504,BC012817,BC017302,BC026040,BC033166,BC035684,BX648019,CR456349,NR_024209 ABB97506,ABB97507,ABB97508,ABB97509,ABB97510,ABB97511,ABB97512,Q96GF1,CAK54490,CAK54789,NP_689480,NP_001129297,EAW59943,EAW59944,EAW59945,EAW59946,EAW59947,EAW59948,EAW59949,EAW59950,EAW59951,EAW59952,EAW59953,CAH05436,CAH05489,BAC04659,BAF83925,BAG59848,AAH09504,AAH12817,AAH26040,AAH33166,AAH35684,CAG30235 Hs.517553 FLJ38628 BSK65-MONO1|BSK65-MONO2|BSK65-PANC1|BSK65-PANC2|BSK65-TEST1|BSK65-TEST2|BSK65-TEST3|RING finger protein 185 protein-coding 1601756 RNF186 ring finger protein 186 16710414,15489334,14702039,12477932,9373149,8125298,19690564,19122664,20228799 54546 NM_019062,AL391883,CH471134,AK000232,AK222991,BC030960,BC051880,CR457228 NP_061935,CAI17040,EAW94904,BAA91024,BAD96711,AAH30960,AAH51880,CAG33509,Q9NXI6 Hs.124835 FLJ20225|RP11-91K11.1 RING finger protein 186 protein-coding 1606704 RNF187 ring finger protein 187 16710414,15489334,12477932,20852630 149603 NM_001010858,AL139288,AI269201,BC000821,BC008022,BC012758,BC015435,BC039872,BC053571,BC064481,BC080645,BI551408,CR599642,CR616289 NP_001010858,CAI23328,AAH00821,AAH12758,AAH64481,Q5TA31,Q9BVY4 Hs.356377,Hs.679030 protein RNF187 protein-coding 1317214 RNF19A ring finger protein 19A The protein encoded this gene contains two RING-finger motifs and an IBR (in between RING fingers) motif. This protein is an E3 ubiquintin ligase that is localized in Lewy bodies (LBs), a characteristic neuronal inclusion in Parkinson's disease (PD) brains. This protein interacts with UBE2L3/UBCH7 and UBE2E2/UBCH8, but not other ubiquitin-conjugating enzymes. This protein is found to bind and ubiquitylate synphilin 1 (SNCAIP), which is a interacting protein of alpha synuclein in neurons, and a major component of LB. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq] 10976766,11237715,18721867,17157513,16513638,15489334,15456787,15030390,14702039,14611647,12875980,12750386,12477932,12145308,21041692,17666395 25897 NM_015435,AL708565,AC025647,AP001574,CH471060,AB029316,AB271913,AJ242975,AK023455,AK027070,AK057699,AL110253,AL122096,BC062676,BC093938,BC093940,BC105300,BC043648,NM_183419 NP_056250,EAW91807,BAB39353,BAF48116,CAB45132,BAB14581,BAB15647,CAB53700,CAB59264,AAH43648,AAH93938,AAH93940,AAI05301,Q3MHC3,Q3ZCS9,Q9NV58,NP_904355 Hs.292882 DKFZp566B1346|DORFIN|RNF19 E3 ubiquitin-protein ligase RNF19A|RING finger protein 19 isoform|double ring-finger protein|p38 protein|protein p38 interacting with transcription factor Sp1|ring-IBR-ring domain containing protein Dorfin protein-coding 1313515 RNF19B ring finger protein 19B IBRDC3 is a cytolysis-associated transmembrane protein expressed in natural killer (NK) cells and T lymphocytes following cytokine stimulation (Kozlowski et al., 1999 [PubMed 10438909]).[supplied by OMIM] 737633 10438909,8889549,15489334,14702039,12477932,16709802 737633 127544 NM_153341,NM_001127361,AL031602,CH471059,CQ782409,AA194237,AK074486,AK131439,BC020595,BC062374,BC113560,BC143687 NP_699172,NP_001120833,CAI19336,EAX07489,EAX07490,EAX07491,CAF85699,BAC11017,BAD18585,AAH20595,AAH62374,AAI13561,AAI43688,Q6ZMZ0,CAI19337 Hs.591504 FLJ90005|IBRDC3|NKLAM E3 ubiquitin-protein ligase RNF19B|IBR domain containing 3|IBR domain-containing protein 3|OTTHUMP00000035903|natural killer lytic-associated molecule protein-coding 3322041 RNF19BPX ring finger protein 19B pseudogene, X-linked 100419788 AL121873,NG_022619 RNF19BX pseudo 3322042 RNF19BPY ring finger protein 19B pseudogene, Y-linked 100419722 AC012078,NG_021906 pseudo 1313548 RNF2 ring finger protein 2 Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq] 737633,1580863 15563468,19549727,19690564,17088979,18616292,17936708,17873902,17379327,17157253,17081983,16714294,16710414,16359901,15960975,15931389,15773819,15761153,15489334,15386022,15009096,14702039,12589020,12477932,12183370,12167701,11865070,11513855,10369680,16169070,18029348,19636380,20696397,16710298,16943429,17070805,17428788,17468742,18629613,19337376,19412891,19584075,20237291,20351251 737633 6045 NM_007212,AL109865,CH471067,AF075026,AF141327,AI242656,AK091574,AK314793,BC012583,BF183837,BX338357,CR597914,CR619047,Y10571 NP_009143,CAC00611,CAI17849,CAI17850,EAW91187,EAW91188,AAD29717,BAG52383,BAG37324,AAH12583,CAA71596,Q99496,ABM83858,ABM87180 Hs.591490 BAP-1|BAP1|DING|HIPI3|RING1B|RING2 E3 ubiquitin-protein ligase RING2|HIP2-interacting protein 3|OTTHUMP00000033407|RING finger protein 1B|RING finger protein BAP-1|huntingtin-interacting protein 2-interacting protein 3|protein DinG protein-coding 1323649 RNF20 ring finger protein 20 The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. Yeast BRE1 is a ubiquitin ligase required for the ubiquitination of histone H2B and the methylation of histone H3. [provided by RefSeq] 18299561,16337599,16307923,15635413,15489334,15302935,15164053,14702039,12876294,12535539,12535538,12477932,11145718,11086069,10975868,10954754,16713563,17148452,18832071,19037095,19410543,19596235,20738173 56254 NM_019592,AF247268,AL353621,AL591377,CH471105,AF265230,AF283791,AF305515,AK000389,AK000697,AK002051,AK022300,AK022532,AK314401,AL832910,AL834272,AY006321,BC016691,BC032618,BC063115,BC110584,BC110585,BC152309 NP_062538,AAG24713,CAI14618,CAH69963,EAW58955,EAW58956,EAW58957,AAK58539,AAG44865,AAG21410,BAA91134,BAA91326,BAA92057,BAB14005,BAB14081,BAG37025,CAH10630,CAD38947,AAG15824,AAH16691,AAH32618,AAH63115,AAI10585,AAI10586,AAI52310,Q05DC0,Q5VTR2 Hs.656088 BRE1|BRE1A|FLJ11189|FLJ20382|KIAA2779|MGC129667|MGC129668|hBRE1 BRE1 E3 ubiquitin ligase homolog|BRE1-A|E3 ubiquitin-protein ligase BRE1A|homolog of S. cerevisiae BRE1 protein-coding 1603826 RNF207 ring finger protein 207 19305409,19305408,16344560,14702039,12477932,12107413,8889548 388591 NM_207396,AL031847,AK056658,AK127700,AK128246,AK128450,AK294223,BC034459,BC119780,BC128237,BQ045220,CD673733,DA190055,DB290694,DB636433 NP_997279,CAI19444,BAB71243,BAC87091,BAC87352,BAG57527,AAI19781,AAI28238,Q6ZRF8 Hs.716549 C1orf188|FLJ32096|FLJ46380|FLJ46593 RING finger protein 207 protein-coding 1603720 RNF208 ring finger protein 208 16189514,12477932,11256614,11230166 727800 NM_031297,BX255925,AF416715,AI880121,AL136540,BC016958,BX343138,DN995061 NP_112587,CAM24146,AAL16809,CAB66475,AAH16958,Q9H0X6 Hs.512767 DKFZp761H1710|MGC88636 OTTHUMP00000162589|RING finger protein 208 protein-coding 1604957 RNF212 ring finger protein 212 18239089,16344560,15489334,14702039,12477932,19763160,15340062 285498 NM_001131034,NM_194439,AC019103,AC092535,CH471131,AK096160,AK310043,BC036250,BC050356,BC101258,BC101259,BC101260,BC101261,CR620687,DB159979,BI460105,NM_001193318,NG_027812,AK124578,BG701603 NP_001124506,NP_919420,EAW82610,EAW82611,EAW82612,EAW82613,EAW82614,BAC04714,AAH36250,AAH50356,AAI01259,AAI01260,AAI01261,AAI01262,NP_001180247,Q495C1 Hs.248290 FLJ38841|FLJ42587|MGC120227|MGC120228|ZHP3 RING finger protein 212 protein-coding 1351712 RNF213 ring finger protein 213 737633 16625196,15489334,14702039,12477932,10997877,10737800,11181995,12112524,17974005,18187866,18318008,18669648,19608861,21048783 737633 57674 AC124319,NM_020914,BX647506,CH471099,AB046774,AK023871,AK025676,AK025914,AK026038,AK074030,AK127358,AK127914,AL161961,AL833201,BC032220,BC110403,BI008697,BX097483,BX640932,BX647946,AB046838,AC123764,AF397204,AF397205,AK023113,AL832920,BC035987,BC036891,BC040341,NM_020954 NP_065965,EAW89595,EAW89596,EAW89597,EAW89598,EAW89599,EAW89600,BAB13380,BAB14708,BAB15212,BAB15280,BAB15330,BAB84856,BAC87188,CAH56308,AAH32220,CAE45967,Q63HN8,Q6ZRW9,Q8WYU1,AAI72594,CAH56189,AAH36891,AAH40341,AAN63520,AAN63521,BAB13444,BAB14411,CAH10615,EAW89593,EAW89594,NP_066005,Q9H932,Q9HCF4 Hs.195642 C17orf27|DKFZp762N1115|FLJ13051|KIAA1554|KIAA1618|MGC46622|MGC9929|NET57 ALK lymphoma oligomerization partner on chromosome 17|OTTHUMP00000220197|chromosome 17 open reading frame 27|protein ALO17 protein-coding 1604189 RNF214 ring finger protein 214 15489334,15146197,12477932 257160 NM_207343,NM_001077239,AP000892,CH471065,AK298923,AK300160,AL834448,BC031347,BC064581,BC146891,BC146901,CN395747,CR624116,DB457549 NP_997226,NP_001070707,EAW67306,EAW67307,BAG61028,BAG61943,CAD39108,AAI46892,AAI46902,Q8ND24 Hs.591934 DKFZp547C195 RING finger protein 214 protein-coding 1606686 RNF215 ring finger protein 215 9847074 200312 NM_001017981,AC004997,CH471095,AK293904,BM476400,BM806918,BX494669 NP_001017981,AAD43187,EAW59883,EAW59884,BAG57289,Q9Y6U7,AAI48384,AAI53029 Hs.592194 OTTHUMP00000198948|RING finger protein 215 protein-coding 1604006 RNF216 ring finger protein 216 This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq] 18029348,15367624,11256614,16968706,16381901,16341674,15489336,15489334,15107846,14702039,12853948,12600646,12477932,11854271,11230166,11076863,10527689,10422847,8076819,16169070,8889548,19913121,20628086,19690434,19893624 54476 NM_207116,AC006483,AC008167,CH471144,AF228527,AF513717,AF513718,AK000916,AK024787,AK092767,AK123635,AK128551,AK292396,AK297231,AK297416,AK314332,AY062174,AY177396,AY177397,AY177398,BC000787,BC004947,BC063825,BM793093,BM997118,BQ018569,BX537406,CR615220,NM_207111,BM970811 NP_996994,NP_996999,AAS07532,EAW87347,EAW87348,EAW87349,AAF36723,AAP47174,AAP47175,BAA91422,BAG53927,BAF85085,BAG59714,BAG59849,BAG36978,AAL38043,AAO60361,AAO60362,AAO60363,AAH00787,AAH63825,CAD97648,Q9NWF9,CAL37508,CAL38564 Hs.487458,Hs.689456 TRIAD3|U7I1|UBCE7IP1|ZIN E3 ubiquitin-protein ligase RNF216|triad domain-containing protein 3|ubiquitin conjugating enzyme 7 interacting protein 1|ubiquitin-conjugating enzyme 7-interacting protein 1|zinc finger protein inhibiting NF-kappa-B protein-coding 2291759 RNF216L ring finger protein 216-like 12477932,11854271,11181995 441191 NR_023384,NR_015449,NR_023385,AC092032,CH471144,AK124529,AK303831,AK308526,AK309798,AK311517,AW079602,BC026736,BC068459,BX538059,CR619754,DC357738 EAW87309,EAW87310,EAW87311,EAW87312,EAW87313,EAW87314,EAW87315,EAW87316,BAH14062 Hs.520636 FLJ18559|FLJ98567|FLJ99839|hCG2040556 pseudo 1315678 RNF217 ring finger protein 217 1580863 18978678,15489334,14702039,14574404,12477932,20379614 154214 AK057943,AK093417,AK122811,BC026087,NM_152553,AL136128,AL355296,CH471051 BAG53740,AAH26087,Q5TCA3,Q8TC41,NP_689766,CAC36346,CAI22999,CAI23000,EAW48149,EAW48150,EAW48151,EAW48152,EAW48153,EAW48154 Hs.368639 C6orf172|IBRDC1|MGC26996|dJ84N20.1 IBR domain containing 1|IBR domain-containing protein 1|OTTHUMP00000017132|probable E3 ubiquitin-protein ligase RNF217 protein-coding 1354147 RNF219 ring finger protein 219 16964243,15489334,15057823,14702039,12477932,11230166,8889548,20936779,17353931,20339536 79596 NM_024546,AL139319,AL445209,CH471093,AK023511,AK098640,AL136651,BC028586,BC136764,BC136765,BI550796,BM674566,CR591202,CR936752,CR936754,CR936764 NP_078822,CAH70397,CAI15183,EAW80586,EAW80587,EAW80588,BAB14594,CAB66586,AAI36765,AAI36766,Q5W0B1 Hs.567576 C13orf7|DKFZp686A01276|DKFZp686N15250|DKFZp686O03173|FLJ13449|FLJ25774 RING finger protein 219|chromosome 13 open reading frame 7 protein-coding 1605659 RNF220 ring finger protein 220 16713569,16710414,15489334,14702039,12477932,11042152,9373149,8125298,19615732,20170641,20379614,19913121,20628086 55182 NM_018150,AL122004,AL359373,AL596225,AF151080,AK001459,AK056424,AK124639,AK124790,AK225180,AK293411,AK296038,AK297228,BC000279,BC034221,BC062600,BC073835,BC098266,BC098300,BC105790,CR594813,CR604881,CR609124,CR618869,AK025744 NP_060620,CAI22343,CAI22346,CAI16124,CAH72320,CAH72322,CAH72323,AAF36166,BAA91704,BAG51705,BAG54095,BAG56918,BAG58804,BAG59711,AAH00279,AAH34221,AAH98266,AAH98300,Q5VTB9,Q9BWG1,Q9P0N3 Hs.456557 C1orf164|FLJ10597|RP4-678E16.1 E3 ubiquitin-protein ligase RNF220|OTTHUMP00000009170|OTTHUMP00000009530|OTTHUMP00000009532 protein-coding 2299989 RNF222 ring finger protein 222 16625196,16344560,8889548 643904 NM_001146684,AC026130,CA944854 NP_001140156,A6NCQ9 Hs.526550 OTTHUMP00000162929|RING finger protein 222|RING finger protein LOC643904 protein-coding 1319703 RNF24 ring finger protein 24 The protein encoded by this gene contains similarity to the Drosophila goliath protein and thus may function as a transcription factor. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq] 1580863 17850865,15489334,12477932,11780052,11042152 11237 NM_001134337,NM_001134338,NM_007219,AL031670,CH471133,AF151081,AL079313,AL096778,BC000213,BC039584,BT007406,CD367454,CR599255,CR605832,CR616881,CR617392,CV811405 NP_001127809,NP_001127810,NP_009150,CAB43182,EAX10467,EAX10468,EAX10469,EAX10470,EAX10471,AAF36167,CAB45279,CAB46627,AAH00213,AAH39584,AAP36074,Q9P0N2,Q9Y225 Hs.589884 G1L RING finger protein 24|goliath-like protein (C3HC4 type) protein-coding 1323079 RNF25 ring finger protein 25 The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq] 1580863 15489334,14702039,12748188,12477932,10500182,9373149,8125298,18757723,19690564,19549727 64320 NM_022453,AC009974,CH471063,AK023968,AK222525,AK289501,AW613024,BC015612,BC028167,BI831198,CR603654,CR604874,CR617443,CR624539 NP_071898,EAW70641,EAW70642,EAW70643,EAW70644,EAW70645,EAW70646,BAB14743,BAD96245,BAF82190,AAH15612,Q96BH1 Hs.471403 AO7|FLJ13906 E3 ubiquitin-protein ligase RNF25|OTTHUMP00000206471|ring finger protein AO7 protein-coding 1314288 RNF26 ring finger protein 26 The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq] 1580863 19690564,11352657,16303743,15489334,14702039,12477932,19913121,20628086 79102 NM_032015,AP003396,CH471065,CS051427,AB055622,AK075379,AK122642,AL702838,BC000058,BC007534,BQ953192,BX647424,BX648447,CR590450,CR610988,CR624837 NP_114404,EAW67479,CAI72207,BAB40955,BAC11580,BAG53635,AAH00058,AAH07534,Q9BY78,ABM84427,ABM87453 Hs.727631,Hs.524084 MGC2642 RING finger protein 26|ring finger protein with leucine zipper protein-coding 2301485 RNF2P ring finger protein 2 pseudogene 100132467 NG_008708,AL162411,AL354707 RNF2P pseudo 1348836 RNF31 ring finger protein 31 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. [provided by RefSeq] 12629548,19136968,19237537,17006537,16713569,15489334,15146197,15093743,14702039,12693554,12477932,10422847,9373149,8744354,8125298,20588308 55072 NM_017999,AL136295,CH471078,AB265810,AK000973,AK027154,AK055542,AK122711,AK225832,AK291247,AY256461,BC009821,BC012077,BC017376,BI459554,BI544688,CD742923,CN287790 NP_060469,EAW66095,EAW66096,EAW66097,EAW66098,EAW66099,BAF35583,BAA91450,BAB15675,BAB70948,BAG53683,BAF83936,AAP12522,AAH09821,AAH12077,AAH17376,Q96EP0 Hs.375217,Hs.434081 FLJ10111|FLJ23501|HOIP|MGC19975|ZIBRA HOIL-1-interacting protein|RING finger protein 31|zinc in-between-RING-finger ubiquitin-associated domain protein protein-coding 1317975 RNF32 ring finger protein 32 The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Several alternatively spliced transcript variants exist, but their full length natures are not clear. [provided by RefSeq] 1580863 19549727,11890671,11256614,16381901,15489336,15489334,12853948,12477932,11230166,11076863,9847074,16169070 140545 DB445126,AC005534,AF441223,AF441225,CH236954,CH471149,AF325690,AF441222,NM_030936,AF441224,AK307316,AK314067,AL136874,BC015416,BC028120,BI460257,BI465216,BT007037,CR533513,CR599570,AA412402,NM_001184996,NM_001184997 NP_112198,AAD43189,AAM18665,AAM18667,AAM18668,AAM18669,EAX04551,EAX04552,EAX04553,EAX04554,EAX04555,EAX04556,EAX04557,EAX04558,AAG50281,AAM18664,AAM18666,CAB66808,AAH15416,AAP35686,CAG38544,Q8TAF1,Q8TDF9,Q9H0A6,CAL37640,CAL38072,NP_001171925,NP_001171926 Hs.446194 FKSG33|HSD15 OTTHUMP00000200007|OTTHUMP00000200008|OTTHUMP00000200127|RING finger protein 32 protein-coding 1352323 RNF34 ring finger protein 34 The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 15897238,15595643,15489334,15069192,14702039,12477932,12118383,9373149,8125298,20564261,19549727,17121812,18382127 80196 NM_194271,NM_025126,AC048337,CH471054,AB084914,AF306709,AK024957,AK025439,AK096994,AK130355,AK225285,AL557811,AY098934,BC007826,BC039029,BC046174,BT007283,CR457342,CR592405,CR601814,CR616780 NP_919247,NP_079402,EAW98262,EAW98263,EAW98264,BAC11802,AAK51328,BAB15132,AAM29180,AAH07826,AAP35947,CAG33623,Q969K3 Hs.292804 CARP-1|CARP1|FLJ21786|RFI|RIF|RIFF|hRFI E3 ubiquitin-protein ligase RNF34|FYVE-RING finger protein MOMO|RING finger protein RIFF|caspase regulator CARP1|caspases-8 and -10-associated RING finger protein 1|human RING finger homologous to inhibitor of apoptosis protein protein-coding 1349960 RNF35 ring finger protein 35 337951 AY063495 737292 RNF38 ring finger protein 38 This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16381901,16344560,15489336,15489334,15164053,14702039,12477932,12074600,11752456,11230166,11076863,8889548,19549727,20308539 152006 AV690059,AX748155,BC033786,BG722531,BI459742,BI520161,BU731024,CR591485,CR619262,DA189510,DA483270,NM_194332,NM_194328,NM_194329,NM_022781,AL161792,AL354935,CH471071,AF394047,AK024996,NM_194330,AK025466,AK093480,AK097653,AL120640,AL136817 CAB66751,AAH33786,Q9H0F5,Q9H748,CAL37560,ABM86161,ABW03690,NP_919311,NP_919313,NP_919309,NP_919310,NP_073618,CAI16895,CAO03553,CAO03554,CAH70194,CAO03540,CAO03541,EAW58305,AAM73697,BAB15050,BAG52726 Hs.333503 FLJ21343 OTTHUMP00000021376|RING finger protein 38 protein-coding 1604283 RNF39 ring finger protein 39 This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20875797,19115949,19050382,14574404,12477932,11716498,11130983,11076863,11006080,10585558,8889548,19693088,19851445,20041166,20593013 80352 NM_025236,NM_170769,AB088087,AB202082,AL669914,AL671859,AL845439,BA000025,BX927229,CH471081,CR933538,AF238315,AF238316,AF238317,CA311242,BX088647,CR388205,CR759763,CR759960 NP_079512,NP_739575,BAC54920,BAE78602,CAI18179,CAI18180,CAI17580,CAI17581,CAI18543,CAI18544,BAB63333,CAQ10495,CAQ10496,EAX03255,EAX03256,CAQ10228,CAQ10229,AAG40628,AAG40629,AAG40630,Q2L6J4,Q96QB5,Q9H2S5,AAI11602,CAQ06743,CAQ06744 Hs.121178 HZF|HZFW|LIRF LTP (long-term potentiation) induced RING finger protein|RING finger protein 39|protein HZFw protein-coding 737478 RNF4 ring finger protein 4 The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. [provided by RefSeq] 1580863 15572661,9710597,19524139,19380586,18408734,15489334,12885770,12874792,12477932,12351196,11719514,11696545,11319220,10849425,10822263,10713105,10617653,9734812,9479498,17762865,20696907,16344560,20379614,8889548,19549727,19690564,20936779 6047 NM_002938,AL645924,BX322586,CH471131,AB000468,AK128038,AK307372,AK309509,AK311314,AK312534,BC031935,CB993989,CR600335,U95140,BU682428,DA342512,DB064628,NM_001185009,NM_001185010 NP_002929,EAW82522,EAW82523,EAW82524,EAW82525,EAW82526,BAA19122,BAG54620,BAG35433,AAH31935,AAC52022,P78317,ABZ92180,NP_001171938,NP_001171939 Hs.443116 RES4-26|SLX5|SNURF E3 ubiquitin ligase RNF4|OTTHUMP00000218372|OTTHUMP00000218373|OTTHUMP00000218374|OTTHUMP00000218376|OTTHUMP00000218383|RING finger protein 4|small nuclear RING finger protein protein-coding 732458 RNF40 ring finger protein 40 The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. [provided by RefSeq] 1580863 17081983,16307923,16303743,16189514,15489334,14702039,12477932,12121982,10944455,9734811,19410543,19615732,20738173 9810 BC018647,BC030802,BC113827,BX640763,CR627431,NM_014771,AC106886,CH471192,AB014561,AF122819,AK027406,AK054773,AK075526,AK131310,AK291666,AK297531,AL708520,AL712808,BC004527,BC006133,BC011769,AK293710,AK294258,AK304521 AAH11769,AAH18647,AAH30802,CAE45869,CAH10518,O75150,Q6ZN99,ABM84369,ABM87793,NP_055586,EAW52197,EAW52198,EAW52199,EAW52200,BAA31636,AAG13723,BAB55092,BAG52163,BAD18476,BAF84355,BAG59933,AAH04527,AAH06133,BAG57143,BAG57553,BAG65325 Hs.65238 BRE1B|DKFZp686K191|KIAA0661|MGC13051|RBP95|STARING 95 kDa retinoblastoma protein binding protein|95 kDa retinoblastoma-associated protein|BRE1 E3 ubiquitin ligase homolog B|BRE1-B|E3 ubiquitin-protein ligase BRE1B|Rb-associated protein protein-coding 1319962 RNF41 ring finger protein 41 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The specific function of this protein has not yet been determined. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq] 20587519,11867753,17210635,17035239,15489334,15314180,14765125,14676191,12477932,12411582,11358394,9110174,8619474,18541373,19800834,20098290,20628057,19549727,19690564 10193 NM_194359,NM_005785,NM_194358,AC073896,CH471054,AF077599,AK314811,AL080105,AY007109,BC011626,BC024284,BC032637,BC036267,BC095418,BI562407,CB989647,CR602750,CR623486,AK300752,AK304576 NP_919340,NP_005776,NP_919339,EAW96909,EAW96910,EAW96911,AAC27647,BAG37335,AAG01988,AAH32637,Q9H4P4,ABZ92287,BAG62420,BAG65365 Hs.524502 MGC45228|NRDP1|SBBI03 E3 ubiquitin-protein ligase NRDP1|neuregulin receptor degradation protein-1 protein-coding 1342772 RNF43 ring finger protein 43 RNF43 is a HAP95 (AKAP8L; MIM 609475) binding ubiquitin ligase that promotes cell growth and is upregulated in colon cancer (Yagyu et al., 2004 [PubMed 15492824]; Sugiura et al., 2008 [PubMed 18313049]).[supplied by OMIM] 15623641,15492824,15489334,14702039,12477932,18313049,16344560,19336002,19690564,20686608 54894 AC004687,NM_017763,AC023992,CH471109,AB081837,AK000322,AK291027,AK296769,AK298789,AK299024,AK309297,BC109028,CR627423,CR749257,DA457410,DA723235 NP_060233,EAW94458,EAW94459,BAD51435,BAA91085,BAF83716,BAH12429,BAH12871,BAH12931,AAI09029,CAH10510,CAH18113,Q68DV7 Hs.584916 DKFZp781H02126|DKFZp781H0392|FLJ20315|FLJ77466|FLJ99338|MGC125630|RNF124|URCC RING finger protein 43 protein-coding 1316271 RNF44 ring finger protein 44 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq] 15489334,12477932,10470851,8889548,7757816 22838 AC091934,CH471195,AB029023,AK127673,AK302385,AL547765,BC039833,BC063297,BM672494,Z39041,NM_014901,AC010316 EAW85070,EAW85071,EAW85072,BAA83052,BAC87078,BAG63702,AAH39833,AAH63297,Q6ZS76,Q7L0R7,NP_055716 Hs.434888 KIAA1100 RING finger protein 44 protein-coding 1352556 RNF5 ring finger protein 5 The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq] 1580863 18216283,19269966,19851445,16176924,15761153,15489334,15485865,14656967,14574404,12477932,11329381,10967549,8889548,2259622,11603805,12861019,14667819,16901789,9533025,19285439,19143821,17804730,19549727,19690564 6048 AB056869,AJ243936,AK296212,AK311859,AL555609,BC004155,BC020290,BC111392,BC119741,BC119742,BC127651,BC127652,BC148255,BM712189,BT007105,BU599297,CR593664,CR609098,CR616890,CR617903,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CQ834264,CR812478,CR933878,U89336,NM_006913 BAB39359,CAB51286,BAG58938,BAG34800,AAH04155,AAI11393,AAI19742,AAI19743,AAI27652,AAI27653,AAI48256,AAP35769,Q99942,NP_008844,CAI17532,CAI18351,CAI41808,CAM26222,CAQ06594,EAX03607,EAX03608,EAX03609,CAH05347,CAQ10698,CAQ09623,AAB47492 Hs.718462 RING5|RMA1 E3 ubiquitin-protein ligase RNF5|hsRma1|protein G16|ram1 homolog protein-coding 1603249 RNF5P1 ring finger protein 5 pseudogene 1 16176924,15489334,14656967,14574404,12861019,12477932,11329381,9533025,20686608 286140 NR_003129,AC069120,CR610330 Hs.512071 pseudo 1314509 RNF6 ring finger protein (C3H2C3 type) 6 The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq] 1580863,1599613 16204183,15489334,12477932,12154016,11971979,10331950,18368307,19345326,19549727,15342556,16344560,19454010 1599613 6049 NM_005977,NM_183043,NM_183044,AL138966,CH471075,AF293342,AJ010346,AJ010347,AK293272,AK312435,AL133621,AY009109,BC034688,BI461269,CR604595,CR749238,DC310579,NG_017042,BP310130,BU633523,DB062601 NP_005968,NP_898864,NP_898865,CAH73183,EAX08380,EAX08381,EAX08382,EAX08383,AAK00848,CAB40413,CAB40414,BAG56801,BAG35344,CAB63747,AAG49400,AAH34688,CAH18094,Q5W0H0,Q68DX6,Q9BZP5,Q9Y252,ABM82407,ABM87824 Hs.136885 DKFZp686P0776 E3 ubiquitin-protein ligase RNF6|RING finger protein 6|RING-H2 protein RNF-6 protein-coding 1322298 RNF7 ring finger protein 7 The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 16325183,19549727,20098747,19250909,10082581,18454945,17828303,17217622,16874460,16189514,15489334,12748192,12565832,12477932,12470599,11999705,11861641,11710515,11506706,11255262,11027288,10851089,10748083,10512750,10506102,10443936,10230407,10230406,20103673,16344560 9616 NM_014245,NM_183237,AC112771,CH471052,AF092878,AF142060,AF164679,AF312226,AK311982,BC005966,BC008627,BF439211,BG715867,BG742338,BT007348,BU959624,CA415974,CR590381,AW150174,BG716023,BG720797,DB272382,NM_001201370,NR_037702,NR_037703 NP_055060,NP_899060,EAW78991,EAW78992,EAW78993,EAW78994,EAW78995,EAW78996,AAD25962,AAD30147,AAD55984,AAK37450,BAG34921,AAH05966,AAH08627,AAP36012,Q9UBF6,ABM82685,ABM85869,NP_001188299 Hs.134623 CKBBP1|ROC2|SAG CKII beta-binding protein 1|RING-box protein 2|rbx2|regulator of cullins 2|sensitive to apoptosis gene protein|sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2|zinc RING finger protein SAG protein-coding 1317571 RNF8 ring finger protein 8 The protein encoded by this gene contains a RING finger motif and a FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 16712791,18001825,18001824,18948756,19124460,18550271,18337245,18171988,18077395,18006705,17724460,16344560,16189514,15489334,15231747,14981089,14702039,14574404,12477932,11322894,9852682,9734811,9373149,8889548,8125298,20713529,19913121,20628086,19797077,20075863,20080757,20081839,19549727,20016603 9025 NM_003958,NM_183078,AB012770,AL096712,CH471081,AB014546,AF334675,AK022075,AK222765,AK298319,AK308840,AL711279,BC007517,BE327572,BF110581,BG029939,BM979512,BT007446,CA418096,CR617567,CR624127,DA064222 NP_003949,NP_898901,BAA33557,CAB75689,EAX03943,EAX03944,EAX03945,BAA31621,AAQ14887,BAD96485,BAG60572,AAH07517,AAP36114,O76064,ABM81663,ABM84835 Hs.485278 FLJ12013|KIAA0646 C3HC4-type zinc finger protein|E3 ubiquitin-protein ligase RNF8|UBC13/UEV-interacting ring finger protein|ring finger protein (C3HC4 type) 8 protein-coding 1606007 RNFT1 ring finger protein, transmembrane 1 12477932,19913121,20628086,19690564 51136 AK294806,AK295162,AK296197,NM_016125,AC004686,AC005702,CH471109,AF100745,AK098649,BC006971,BC088365,CR594569,DB456985 BAG57925,BAG58176,BAG58926,NP_057209,EAW94378,EAW94379,EAW94380,EAW94381,AAD43009,BAC05364,AAH88365,Q5M7Z0 Hs.531701 MGC111090|PTD016 PTD016 protein|RING finger and transmembrane domain-containing protein 1 protein-coding 1605925 RNFT2 ring finger protein, transmembrane 2 16541075,15489334,14702039,12975309,12477932 84900 NM_032814,NM_001109903,AC083806,AC090013,CH471054,AK027533,AK093164,AY358585,BC011878,BG719293,BQ676121,CA432422,CR608078 NP_001103373,NP_116203,EAW98090,EAW98091,EAW98092,BAB55182,AAQ88948,AAH11878,Q6UWZ0,Q96EX2 Hs.437195 FLJ14627|TMEM118 RING finger and transmembrane domain-containing protein 2|transmembrane protein 118 protein-coding 1322859 RNGTT RNA guanylyltransferase and 5'-phosphatase 1580863 9473487,9512541,9790902,17081983,15342556,14569024,12477932,12408826,11278368,10421630,9828141,9705270,9371772,20379614,20339536 8732 AK295719,AK299777,AK312407,BC019954,BP256840,BX537450,NM_003800,AL079342,AL096868,AL133408,AL160403,AL445530,CH471051,AB009022,AB009023,AB009024,AB012142,AB012143,AF025654 AAB91559,BAG58562,BAG61660,BAG35320,AAH19954,CAD97693,O60942,Q5TCW7,Q7Z3R6,NP_003791,CAI22537,CAI22538,CAI21547,CAI21548,CAI21542,CAI21543,CAI22048,CAI22049,EAW48566,EAW48567,EAW48568,EAW48569,EAW48570,BAA25894,BAA25895,BAA25896,BAA25198,BAA25199 Hs.567378 CAP1A|DKFZp686J2031|HCE|HCE1|hCAP HCAP1|mRNA-capping enzyme protein-coding 735371 RNH1 ribonuclease/angiogenin inhibitor 1 1580863 2742853,3064806,3470787,2081593,17956129,17350650,15936590,15755456,15592448,15489334,14702039,12477932,11342552,9311977,8264799,8037455,6653993,3243277,3219362,3219361,2276743,18930025,19034380,19596235,19615732,20381070 6050 NM_203389,NM_203388,NM_203387,NM_203386,NM_203385,NM_203384,NM_002939,NM_203383,AC137894,CH471158,AB209196,AK027172,AK057144,AK308340,AK310173,AK311379,AL161967,AL534410,AL539148,AY071904,BC000677,BC003506,BC011186,BC011500,BC014629,BC024037,BC047730,BG716555,BG720935,BM019570,BM562998,BQ650217,BQ927358,CR590338,CR592118,CR592511,CR592774,CR592892,CR592988,CR593636,CR594328,CR595919,CR596248,CR597292,CR597816,CR598193,CR598663,CR598809,CR599057,CR600355,CR600356,CR600411,CR602999,CR604056,CR604193,CR604995,CR606240,CR608218,CR608690,CR611258,CR612687,CR613396,CR613915,CR614192,CR616098,CR619871,CR620826,CR624221,CR624314,CR624317,CR625171,CR626140,M22414,M36717,X13973 NP_976323,NP_976322,NP_976321,NP_976320,NP_976319,NP_976318,NP_002930,NP_976317,EAX02330,EAX02331,EAX02332,EAX02333,EAX02334,EAX02335,EAX02336,BAD92433,BAB15684,CAB82310,AAL60586,AAH00677,AAH03506,AAH11186,AAH11500,AAH14629,AAH24037,AAH47730,AAA59130,AAA60249,CAA32151,P13489,Q59GB3,Q8IZK8,Q96FD7,Q9BQ80 Hs.530687 MGC18200|MGC4569|MGC54054|RAI|RNH Placental ribonuclease inhibitor|placental RNase inhibitor|ribonuclease inhibitor protein-coding 1320337 RNLS renalase, FAD-dependent amine oxidase Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM] 737633 20302943,17207965,20975995,17846126,17565281,17216203,15841207,15489334,15342556,15164054,14702039,12477932,8889548,16385451,19430480,19471322,20168325 737633 55328 NM_018363,NM_001031709,AL139406,AL353149,AL365185,CH471066,AA854849,AK002080,AK296262,BC005364,BM978857,BP332262,BX648154 ADQ32670,NP_060833,NP_001026879,CAH73711,CAH73712,CAH70340,CAH70341,CAH73628,CAH73629,EAW50167,EAW50168,EAW50169,EAW50170,EAW50171,BAA92073,BAG58975,AAH05364,Q5VYX0 Hs.149849 C10orf59|FLJ11218|RENALASE MAO-C|monoamine oxidase-C|renalase protein-coding 1319473 RNMT RNA (guanine-7-) methyltransferase 1580863,1359071 9790902,9512541,19161160,15767670,15489334,12477932,11114884,10589710,10347220,9828141,9705270,9455477,7275966,20379614 1359071 8731 NM_003799,EF445026,AP001525,CH471113,AB007858,AB020966,AB022604,AB022605,AB022606,AF067791,AK292561,AK296370,AK303842,BC005290,BC017816,BC036798,BX647977,CR602543 ACA06068,NP_003790,EAX01505,EAX01506,EAX01507,BAA23694,BAA82447,BAA74464,BAA74463,BAA74462,AAC63269,BAF85250,BAH12334,BAH14065,AAH05290,AAH17816,AAH36798,O43148,Q05D80,Q05DQ2,Q9UEB8 Hs.592347 DKFZp686H1252|KIAA0398|MET|RG7MT1|hCMT1c OTTHUMP00000162509|hCMT1|hMet|hcm1p|mRNA (guanine-7-)methyltransferase|mRNA (guanine-N(7)-)-methyltransferase|mRNA cap guanine-N7 methyltransferase|mRNA cap methyltransferase protein-coding 1351342 RNMTL1 RNA methyltransferase like 1 19615732,17207965,20877624,17353931,14702039,12477932,12296377,9373149,8125298 55178 AK222900,AK225128,BC011550,BC050614,CR590735,CR591937,CR592397,CR593905,CR598330,CR606252,CR606431,CR610396,CR610400,CR613251,CR620136,CR626293,CR626756,NM_018146,AC087392,CH471108,AF177344,AK001443 ADQ33196,BAA91694,BAD96620,AAH11550,AAH50614,Q9HC36,NP_060616,EAW90642,AAG17988 Hs.182729 FLJ10581|HC90 RNA methyltransferase-like protein 1|putative RNA methyltransferase protein-coding 1350307 RNPC3 RNA-binding region (RNP1, RRM) containing 3 Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq] 18559850,16096647,15146197,15146077,14974681,12477932,11347906,18482256 55599 NM_017619,NG_004750,AC095032,AC105272,BX322653,CH471097,AK000015,AK057799,AK289844,AL137730,AY099329,BC010697,BK005195,CN386195 NP_060089,CAH72167,CAH72168,EAW72901,EAW72905,EAW72906,BAA90885,BAB71580,BAF82533,CAB70897,AAM45139,AAH10697,DAA05493,Q96LT9 Hs.632423 FLJ20008|FLJ25070|KIAA183|RBM40|RNP RNA recognition protein|RNA-binding motif protein 40|RNA-binding protein 40|RNA-binding region-containing protein 3|U11/U12 small nuclear ribonucleoprotein 65 kDa protein|U11/U12 snRNP 65 kDa protein|U11/U12 snRNP 65K|U11/U12-65K protein-coding 733030 RNPEP arginyl aminopeptidase (aminopeptidase B) 1581649,1580863,1582109,2325950,2325942 15231748,12119107,10467730,16981702,15489334,14702039,12477932,9533033,9405297,8895530,8344358 1581649,1582109,2325950,2325942 6051 NM_020216,AC099676,BN000001,CH471067,AJ242586,AJ296161,AK026644,AK097372,AK129946,AL390139,BC001064,BC012166,BQ898593,BX648806,CR600517,Z36876 NP_064601,CAD29858,EAW91386,EAW91387,CAC12957,CAC14047,CAB99087,AAH01064,AAH12166,Q7RU04,Q9H4A4,ABM87011,ABW03849 Hs.497391 DKFZp547H084 AP-B|OTTHUMP00000034048|aminopeptidase B|aminopeptidase b|arginine aminopeptidase protein-coding 1352195 RNPEPL1 arginyl aminopeptidase (aminopeptidase B)-like 1 1580863 15815621,15489334,14702039,12477932,11017071,20549515,17554300,19508204,20414141 57140 NM_018226,AC124862,CH471063,AF300795,AK001668,AK130185,AK130805,AL512754,BC017301,BC067258,BC082975,BC099906,CR602980 NP_060696,AAX88943,EAW71193,EAW71194,EAW71195,AAG22080,BAA91823,CAC21674,AAH17301,AAH67258,AAH82975,AAH99906,Q9HAU8 Hs.5345 FLJ10806|FLJ26675|MGC99544 RNPEP-like 1|argininyl aminopeptidase-like 1|arginyl aminopeptidase-like 1 protein-coding 1316766 RNPS1 RNA binding protein S1, serine-rich domain This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq] 20857263,14752011,9580558,11477570,17353931,12226669,19403727,17959926,17081983,16713569,16209946,16189514,15684395,15592455,15489334,15324660,15302935,14729963,14702039,14625303,14517304,12944400,12477932,12093754,11546874,11546873,11118221,10449421,9933612,8828041,8543184,11707413,16344560 10921 AB445101,CR613111,CR615513,CR617328,CR623779,CR626163,CR626285,L37368,CR612691,NM_080594,NM_006711,AC009065,CH471112,L75926,L75927,AF015608,AF247662,AF274003,AK021799,AK289955,AK293343,AK303100,AK316132,AL520572,BC001659,BC001838,BC108316,BG716139,CR590882,CR591441,CR593506,CR593509,CR593829,CR594542,CR594976,CR596728,CR598454,CR599280,CR600795,CR602121,CR605668,CR607342,CR607876,CR607880,CR608607,CR610866,DA728900,DA732377,DA818573 BAI99736,AAA92859,AAA92860,Q15287,Q15288,ABM86440,ABW03795,NP_542161,NP_006702,EAW85516,EAW85517,EAW85518,EAW85519,EAW85520,EAW85521,EAW85522,AAC39791,AAF72519,AAL56665,BAF82644,BAG56859,BAG64209,BAH14503,AAH01659,AAH01838,AAI08317 Hs.355643 E5.1|MGC117332 RNA-binding protein S1, serine-rich domain|RNA-binding protein with serine-rich domain 1|SR protein|SR-related protein LDC2 protein-coding 1351869 RNR1 RNA, ribosomal 1 6052 1350800 RNR2 RNA, ribosomal 2 11350117,7557999,6954460,4091818,3865188,3785147,3649563,2989541,2606358,2319598,2047879 6053 NR_024197,AF305858 rrna 1347966 RNR3 RNA, ribosomal 3 11350117,6954460 6054 1345442 RNR4 RNA, ribosomal 4 6055 1344556 RNR5 RNA, ribosomal 5 6056 U13369 1352403 RNRP1 RNA, ribosomal pseudogene 1 3557129 6057 1342900 RNRP2 RNA, ribosomal pseudogene 2 6058 2793761 RNU1-6 RNA, U1 small nuclear 6 100312957 BX537254,NR_030723 snrna 1342826 RNU105A RNA, U105A small nucleolar 7530998 26768 NR_004404,U12211,AL513497 105A|E1c snorna 1352899 RNU105B RNA, U105B small nucleolar 7530998 26767 NR_004386,AL031683,U12207 105B|E1-2 snorna 1349469 RNU105C RNA, U105C small nucleolar 7530998 26766 NR_004385,AC027250,U12208 E1-5|E1-6 snorna 1346363 RNU11 RNA, U11 small nuclear 2973606,15146077,20347424 26824 NR_004407,X58716,AL840644 Hs.640266 U11 snrna 1349922 RNU12 RNA, U12 small nuclear 19217400,7489523,15146077 26823 AL513366,L43845,NG_013273 RNU12|RNU12P|U12 pseudo 1344410 RNU12P RNA, U12 small nuclear pseudogene 7489523,2973606 267010 NR_029422,L43846,J04119 Hs.574857 RNU12-1|RNU12L|RNU12P|dJ222E13.7 snrna 1346573 RNU13P1 RNA, U13 small nuclear pseudogene 1 1748306 6076 NG_008259,Z99716,X58061 RNU13P1|U13|U13.32A pseudo 1344331 RNU13P2 RNA, U13 small nuclear pseudogene 2 9847074,1748306 6077 NG_008260,AC072054,X58060 RNU13P2|U13|U13.12A pseudo 1353610 RNU13P3 RNA, U13 small nuclear pseudogene 3 1748306 6078 NG_008261,AC104447,X58062 RNU13P3|U13|U13.4B pseudo 1347071 RNU17C RNA, U17C small nucleolar 26764 1349295 RNU1A RNA, U1A small nuclear 19169258,16373497,12837281,12697817,12082087,12034819,6198328,6180116,15456888 6060 NR_004421,J00318 HU1-1|RNU1|RNU1G4|Rnu1a1|U1 snrna 1348485 RNU1A3 RNA, U1A3 small nuclear 6179629,3837185 26871 NR_004430,M14385 HSD1|U1A1 snrna 68982 RNU1B RNA, U1B small nuclear 6061 1345778 RNU1C1 RNA, U1C1 small nuclear 3837185 26870 NR_004427,M28012,BX284668,M28013 RNU1C1|RNU1C2|U1C1|U1C21 snrna 1349662 RNU1C2 RNA, U1C2 small nuclear 3837185 26869 NR_004408,M28013 U1C21 snrna 1346912 RNU1D2 RNA, U1D2 small nuclear 6179629 26868 NR_004426,M14585 HSD5|U1B2|U1D2 snrna 1348919 RNU1E2 RNA, U1E2 small nuclear 6179629 26867 M14586 U1E2 snrna 1350496 RNU1F1 RNA, U1F1 small nuclear 6179629 26866 NR_004402,M14587 HSD7|U1F snrna 1353181 RNU1G1 RNA, U1G1 small nuclear 6179629 26865 NR_004424,M14586,M20034 HSD6|RNU1E2|U1E2 snrna 1350487 RNU1G2 RNA, U1G2 small nuclear 6179629 26864 NR_004426,M14585,M20033 HSD2|HSD5|RNU1D2|U1B2|U1D2 snrna 1347698 RNU1G3 RNA, U1G3 small nuclear 6179629,3837185 26863 NR_004400,M14387,M20032 HSD4 snrna 1345159 RNU1G4 RNA, U1G4 small nuclear 6180116 26862 J00318 1343691 RNU1P1 RNA, U1 small nuclear pseudogene 1 3837185 6062 NG_001183,M28011 U1P101 pseudo 1344291 RNU1P10 RNA, U1 small nuclear pseudogene 10 6085956 26856 NG_001259,BX284650,M25188 RNU1P10|U1.4|U1P14 pseudo 1345451 RNU1P2 RNA, U1 small nuclear pseudogene 2 3837185 6063 NG_001184,M28010,AADB02368648,ABBA01000381 RNU1P2|U1P2A pseudo 1354050 RNU1P3 RNA, U1 small nuclear pseudogene 3 3837186 6064 1350084 RNU1P4 RNA, U1 small nuclear pseudogene 4 3837186 6065 1347098 RNU1P5 RNA, U1 small nuclear pseudogene 5 6180116,6173130 26861 NG_001264,J00319,AL008729 RNU1P1|RNU1P5|U1P1A pseudo 1349649 RNU1P6 RNA, U1 small nuclear pseudogene 6 6085956 26860 NG_001263,BX284650,M25189 RNU1P6|U1.1|U1P1 pseudo 1346841 RNU1P7 RNA, U1 small nuclear pseudogene 7 6173130,6085956 26859 NG_001262,CH236957,M25192,AC007735 RNU1P7|U1P17 pseudo 1342987 RNU1P8 RNA, U1 small nuclear pseudogene 8 6085956 26858 NG_001261,AC005094,CH236948,M25191 RNU1P8|U1P11 pseudo 1351596 RNU1P9 RNA, U1 small nuclear pseudogene 9 6085956 26857 NG_001260,AL356957,M25190 U1.15|U1P15 pseudo 1347643 RNU2-1 RNA, U2 small nuclear 1 The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq] 14701755,12477932,9608047,9034341,7828589,6209403,6203126,6201719,6084596,2411549,2410771,2176635,15456888 6066 K02227,K03022,K03023,L37793,M19204,U57614,X01408,X02665,X59360,NR_002716,AC087365 RNU2|U2 snrna 1350847 RNU2-2 RNA, U2 small nuclear 2 6238232 26855 NR_002761,AP001160,K02847 RNU2B|U2 snrna 1351079 RNU2P1 RNA, U2 small nuclear pseudogene 1 6209403,6172777 26854 NG_001258,K03024,AC015574 RNU2P1|U2 pseudo 1350456 RNU2P2 RNA, U2 small nuclear pseudogene 2 6201719 26853 NG_001257,AC087650,K02228 RNU2P2|U2|U2/7 pseudo 1343360 RNU2P3 RNA, U2 small nuclear pseudogene 3 6165010 26852 NG_001256,AL392044,K00779 RNU2P3 pseudo 1347729 RNU3A2 RNA, U3A2 small nucleolar 9365252 26850 AF020530 u3 snorna 1346913 RNU3A3 RNA, U3A3 small nucleolar 9365252 26849 AF020531 U3a snorna 1345715 RNU3B1 RNA, U3B1 small nucleolar 9365252 26848 AF020533 U3b1 snorna 1343109 RNU3B2 RNA, U3B2 small nucleolar 9365252 26847 AF020532 U3b1 snorna 1352521 RNU3B3 RNA, U3B3 small nucleolar 9365252 26846 AF020536 U3b2 snorna 1346919 RNU3B4 RNA, U3B4 small nucleolar 9365252 26845 AF020529 U3 snorna 1343238 RNU3P1 RNA, U3 small nucleolar pseudogene 1 2719960 6068 AC090515,NG_001185,X14946 U3 pseudo 1345745 RNU3P2 RNA, U3 small nucleolar pseudogene 2 6186397 26844 NG_001255,AC090805,K00773 U3|U3.2 pseudo 1349861 RNU3P3 RNA, U3 small nucleolar pseudogene 3 6186397,6173130 26843 NG_001254,AL157957,K00774 U3|U3.5|u3.7 pseudo 1352419 RNU3P4 RNA, U3 small nucleolar pseudogene 4 6186397 26842 NG_001253,AC104641,K00775 U3|U3.6 pseudo 1342825 RNU4-1 RNA, U4 small nuclear 1 14691257,12384583,9847074,6169000,3582982,2176635 26835 NR_003925,AC004263,M15956,V00592,X59361 RNU4A|RNU4B2|U4|U4BL rna, u4b2 small nuclear snrna 1350883 RNU4-1B RNA, U4 small nuclear 1B 6169000 26836 NR_002759,K00472 RNU4B1|U4A|U4b rna, u4b1 small nuclear snrna 1354125 RNU4-2 RNA, U4 small nuclear 2 9847074,6169000,3582982 26834 K00472,NR_003137,AC004263,M15957,K00473 RNU4-1B|RNU4B1|RNU4C|U4A|U4b|U4c rna, u4c small nuclear snrna 1347384 RNU4A RNA, U4A small nuclear 14691257,12384583,6169000,2176635 26837 V00592,X59361 U4 snrna 2302447 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 14691257,12374753,8791582,2409455 100151683 NR_023343,AC012447 Hs.689638 RNU4ATAC1|U4ATAC snrna 1343871 RNU4P1 RNA, U4 small nuclear pseudogene 1 (U4/7) 2583518 6069 NG_001186,AL357561,M24746 RNU4P1|U4|U4/7 pseudo 1351806 RNU4P2 RNA, U4 small nuclear pseudogene 2 (U4/14) 2583518 6070 NG_001187,AC017099,M24745 RNU4P2|U4|U4/14 pseudo 1349079 RNU4P3 RNA, U4 small nuclear pseudogene 3 2582241 26841 NG_001252,AC023043,M11384,X02651 RNU4P3|U4|U4/4 pseudo 1346431 RNU4P4 RNA, U4 small nuclear pseudogene 4 2582241 26840 NG_001251,AC108667,X02652 RNU4P4|U4|U4/5 pseudo 1343805 RNU4P5 RNA, U4 small nuclear pseudogene 5 2582241 26839 NG_001250,AL354951,X02653 RNU4P5|U4|U4/6 pseudo 1351832 RNU4P6 RNA, U4 small nuclear pseudogene 6 2582241 26838 NG_001249,AL929302,X02654 RNU4P6|U4|U4/8 pseudo 1354124 RNU5A RNA, U5A small nuclear 1302268 6164980,1310151 1302268 26833 X04215 U5A snrna 1345743 RNU5B-1 RNA, U5B small nuclear 1 1302268 6164980,1310151 1302268 26832 NR_002757,AC105129,X04293 RNU5B|RNU5B-1P|U5B1 snrna 2293168 RNU5B-2P RNA, U5B small nuclear 2 pseudogene 100147750 NG_007589,AC121754 pseudo 2293167 RNU5B-3P RNA, U5B small nuclear 3 pseudogene 100147751 NG_007590,AC104165 pseudo 2293166 RNU5B-4P RNA, U5B small nuclear 4 pseudogene 100147752 NG_007591,AC142391 pseudo 2293165 RNU5B-5P RNA, U5B small nuclear 5 pseudogene 100147753 NG_007592,AL627223 pseudo 2293164 RNU5B-6P RNA, U5B small nuclear 6 pseudogene 100147754 NG_007593,AL138766 pseudo 1353881 RNU5C RNA, U5C small nuclear 1302268 6200827,1310151 1302268 26831 NR_002756,AC068213,K03167 U5B1 snrna 1350907 RNU5D RNA, U5D small nuclear 1302268 1310151 1302268 26830 NR_002755,AL122004,M77838 U5DL|U5DS snrna 1346894 RNU5E RNA, U5E small nuclear 1302268 1310151 1302268 26829 NR_002754,AL021155,M77839 U5E snrna 1344416 RNU5F RNA, U5F small nuclear 1302268 1310151 1302268 26828 NR_002753,AL122004,M77840 U5F snrna 1343798 RNU6-1 RNA, U6 small nuclear 1 3360322,15469824,20125193 26827 NR_004394,AC009292,M14486 RNU6|RNU6A|U6 snrna 2312691 RNU6-15 RNA, U6 small nuclear 15 100302741 NR_028372,AL731547 snrna 1350166 RNU6-2 RNA, U6 small nuclear 2 6173742,20125193 26826 NR_002752,AL138764,K03099 RNU6B|U6 snrna 2312694 RNU6-21 RNA, U6 small nuclear 21 100302738 NR_028369,AC092124 snrna 2312690 RNU6-42 RNA, U6 small nuclear 42 100302742 NR_028373,AC055725 snrna 2302446 RNU6ATAC RNA, U6atac small nuclear (U12-dependent splicing) 14691257,12374753,8791582,2409455 100151684 NR_023344,BX649601 Hs.545589 RNU6ATAC1|U6ATAC snrna 2311266 RNU6ATAC2P RNA, U6atac small nuclear 2 pseudogene 100151685 AC016638,NG_007720 pseudo 2311265 RNU6ATAC3P RNA, U6atac small nuclear 3 pseudogene 100151686 NG_007721,AC005670 pseudo 2311264 RNU6ATAC4P RNA, U6atac small nuclear 4 pseudogene 100151687 NG_007722,AC011816 pseudo 2311263 RNU6ATAC5P RNA, U6atac small nuclear 5 pseudogene 9847074 100151688 NG_007723,AC095053 pseudo 1351539 RNU6P1 RNA, U6 small nuclear pseudogene 1 2998934 26825 NG_001248,AL031393,K03026 RNU6P1|U6 pseudo 1346459 RNU6V RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence 1829158 6071 NG_009877,AL355310,X54048 87U6|LH87 pseudo 2293174 RNU7 RNA, U7 small nuclear 18267300,9074930,8723724 100147744 NR_023317,U47924 RNU7|RNU7-1|U7.1 snrna 2293289 RNU7-10P RNA, U7 small nuclear 10 pseudogene 18267300 100147758 NG_007597,AC104451 U7.10 pseudo 2293288 RNU7-11P RNA, U7 small nuclear 11 pseudogene 18267300,9847074 100147759 NG_007598,AC108471 U7.11 pseudo 2293287 RNU7-12P RNA, U7 small nuclear 12 pseudogene 18267300 100147760 NG_007599,AL160291 FLJ10376|U7.12 pseudo 2293286 RNU7-13P RNA, U7 small nuclear 13 pseudogene 18267300 100147761 NG_007600,AL136086 U7.13 pseudo 2293285 RNU7-14P RNA, U7 small nuclear 14 pseudogene 18267300 100147762 NG_007601,AC005914 U7.14 pseudo 2293284 RNU7-15P RNA, U7 small nuclear 15 pseudogene 18267300 100147763 NG_007602,AC004500 U7.15 pseudo 2293283 RNU7-16P RNA, U7 small nuclear 16 pseudogene 18267300 100147764 NG_007603,AC009244,CH236950 U7.16 pseudo 2293282 RNU7-17P RNA, U7 small nuclear 17 pseudogene 18267300 100147765 NG_007604,AC091043 U7.17 pseudo 2293281 RNU7-18P RNA, U7 small nuclear 18 pseudogene 18267300 100147766 NG_007605,AC024937 U7.18 pseudo 2293280 RNU7-19P RNA, U7 small nuclear 19 pseudogene 18267300 100147767 AC098481,NG_007606,AC103559 U7.19 pseudo 2293279 RNU7-20P RNA, U7 small nuclear 20 pseudogene 18267300,12853948 100147768 NG_007607,AC006323 U7.20 pseudo 2293278 RNU7-21P RNA, U7 small nuclear 21 pseudogene 18267300 100147769 NG_007608,AL593851 U7.21 pseudo 2293277 RNU7-22P RNA, U7 small nuclear 22 pseudogene 18267300 100147770 NG_007609,AL445071 U7.22 pseudo 2293276 RNU7-23P RNA, U7 small nuclear 23 pseudogene 18267300 100147771 NG_007610,AP003176 U7.23 pseudo 2293275 RNU7-25P RNA, U7 small nuclear 25 pseudogene 18267300 100147812 NG_007619,AP005431 U7.25 pseudo 2293274 RNU7-26P RNA, U7 small nuclear 26 pseudogene 18267300 100147813 NG_007620,Z98744 U7.26 pseudo 2293273 RNU7-27P RNA, U7 small nuclear 27 pseudogene 18267300 100147814 NG_007621,AC010655 U7.27 pseudo 2293272 RNU7-28P RNA, U7 small nuclear 28 pseudogene 18267300 100147815 NG_007622,AC026250 U7.28 pseudo 2293271 RNU7-29P RNA, U7 small nuclear 29 pseudogene 18267300 100147816 NG_007623,AL137792 U7.29 pseudo 2293173 RNU7-2P RNA, U7 small nuclear 2 pseudogene 18267300 100147745 NG_007583,AC009476 U7.2 pseudo 2293270 RNU7-30P RNA, U7 small nuclear 30 pseudogene 18267300 100147817 NG_007624,AL121784 U7.30 pseudo 2293269 RNU7-31P RNA, U7 small nuclear 31 pseudogene 18267300 100147818 NG_007625,AC055839 U7.31 pseudo 2293268 RNU7-32P RNA, U7 small nuclear 32 pseudogene 18267300 100147819 NG_007626,AC023891 U7.32 pseudo 2293267 RNU7-33P RNA, U7 small nuclear 33 pseudogene 18267300 100147820 NG_007627,AL390059 U7.33 pseudo 2293266 RNU7-34P RNA, U7 small nuclear 34 pseudogene 18267300 100147821 NG_007628,AC093206 U7.34 pseudo 2293265 RNU7-35P RNA, U7 small nuclear 35 pseudogene 18267300,9847074 100147822 NG_007629,AC004455,CH236951 U7.35 pseudo 2293264 RNU7-36P RNA, U7 small nuclear 36 pseudogene 18267300 100147823 NG_007630,AL354989 FLJ20347|U7.36 pseudo 2293263 RNU7-37P RNA, U7 small nuclear 37 pseudogene 18267300,8267300 100147824 NG_007631,AL139396 KIAA0522|U7.37 pseudo 2293262 RNU7-38P RNA, U7 small nuclear 38 pseudogene 18267300 100147825 NG_007632,AC073370 U7.38 pseudo 2293261 RNU7-39P RNA, U7 small nuclear 39 pseudogene 18267300 100147826 NG_007633,AC087884 U7.39 pseudo 2293172 RNU7-3P RNA, U7 small nuclear 3 pseudogene 18267300 100147746 NG_007584,AL357619 U7.3 pseudo 2293260 RNU7-40P RNA, U7 small nuclear 40 pseudogene 18267300 100147827 NG_007634,AC025574 U7.40 pseudo 2293259 RNU7-41P RNA, U7 small nuclear 41 pseudogene 18267300 100147828 NG_007635,AL121603 U7.41 pseudo 2293258 RNU7-42P RNA, U7 small nuclear 42 pseudogene 18267300 100147829 NG_007636,AC009137 U7.42 pseudo 2293257 RNU7-43P RNA, U7 small nuclear 43 pseudogene 18267300 100147830 NG_007637,AC026130 U7.43 pseudo 2293256 RNU7-44P RNA, U7 small nuclear 44 pseudogene 18267300 100147831 NG_007638,AC010894 U7.44 pseudo 2293255 RNU7-45P RNA, U7 small nuclear 45 pseudogene 18267300 100147832 NG_007639,AC007283 U7.45 pseudo 2293254 RNU7-46P RNA, U7 small nuclear 46 pseudogene 18267300 100147833 NG_007640,AC084377 U7.46 pseudo 2293253 RNU7-47P RNA, U7 small nuclear 47 pseudogene 18267300 100147834 NG_007641,AC022291 U7.47 pseudo 2293252 RNU7-48P RNA, U7 small nuclear 48 pseudogene 18267300 100147835 NG_007642,AL078591 FLJ11049|U7.48 pseudo 2293251 RNU7-49P RNA, U7 small nuclear 49 pseudogene 18267300 100147836 NG_007643,AC018523 U7.49 pseudo 2293171 RNU7-4P RNA, U7 small nuclear 4 pseudogene 18267300 100147747 NG_007585,AC025423 U7.4 pseudo 2293250 RNU7-50P RNA, U7 small nuclear 50 pseudogene 18267300 100147837 NG_007644,AC090587 U7.50 pseudo 2293246 RNU7-51P RNA, U7 small nuclear 51 pseudogene 18267300 100151647 NG_007669,AL162872 U7.51 pseudo 2293245 RNU7-52P RNA, U7 small nuclear 52 pseudogene 18267300 100151648 NG_007670,AC008026 U7.52 pseudo 2293244 RNU7-53P RNA, U7 small nuclear 53 pseudogene 18267300 100151649 NG_007671,AC004226 U7.53 pseudo 2293243 RNU7-54P RNA, U7 small nuclear 54 pseudogene 18267300 100151650 NG_007672,AC010655 U7.54 pseudo 1348179 RNU7-55P RNA, U7 small nuclear 55 pseudogene 18267300,2249787 6075 NG_001191,AC087579,M35540 HSU7.36|HSU7.55|RNU7P4|U7|U7.55 RNA, small nuclear U7 pseudogene 4|rna, u7 small nuclear pseudogene 4 pseudo 2293242 RNU7-56P RNA, U7 small nuclear 56 pseudogene 18267300 100151651 NG_007673,BX004861 U7.56 pseudo 2293241 RNU7-57P RNA, U7 small nuclear 57 pseudogene 18267300 100151652 NG_007674,AL162591 DKFZp434M202|U7.57 pseudo 2293240 RNU7-58P RNA, U7 small nuclear 58 pseudogene 18267300 100151653 NG_007675,AP000442 U7.58 pseudo 2293239 RNU7-59P RNA, U7 small nuclear 59 pseudogene 18267300 100151654 NG_007676,AP002789 U7.59 pseudo 2293170 RNU7-5P RNA, U7 small nuclear 5 pseudogene 18267300 100147748 NG_007586,AC025580 U7.5 pseudo 2293238 RNU7-60P RNA, U7 small nuclear 60 pseudogene 18267300 100151655 NG_007677,AC007450 U7.60 pseudo 2293237 RNU7-61P RNA, U7 small nuclear 61 pseudogene 18267300 100151656 NG_007678,AC116348 U7.61 pseudo 2293236 RNU7-62P RNA, U7 small nuclear 62 pseudogene 18267300 100151657 NG_007679,AL513044 U7.62 pseudo 2293235 RNU7-63P RNA, U7 small nuclear 63 pseudogene 18267300 100151658 NG_007680,AC007224 U7.63 pseudo 2293234 RNU7-64P RNA, U7 small nuclear 64 pseudogene 18267300 100151662 NG_007681,AC016753 U7.64 pseudo 2293233 RNU7-65P RNA, U7 small nuclear 65 pseudogene 18267300 100151663 NG_007682,AL035687 U7.65 pseudo 2293232 RNU7-66P RNA, U7 small nuclear 66 pseudogene 18267300 100151664 NG_007683,AL450336 U7.66 pseudo 2293231 RNU7-67P RNA, U7 small nuclear 67 pseudogene 18267300 100151665 NG_007684,AP001330 U7.67 pseudo 1344928 RNU7-68P RNA, U7 small nuclear 68 pseudogene 18267300,2249787,2175614 6072 NG_001188,AC002476,M35537 HSU7.732A|RNU7P1|U7|U7.68 RNA, small nuclear U7 pseudogene 1|rna, u7 small nuclear pseudogene 1 pseudo 2293230 RNU7-69P RNA, U7 small nuclear 69 pseudogene 18267300 100151666 NG_007685,AL023575 U7.69 pseudo 2293169 RNU7-6P RNA, U7 small nuclear 6 pseudogene 18267300 100147749 NG_007587,AL356354 U7.6 pseudo 2293229 RNU7-70P RNA, U7 small nuclear 70 pseudogene 18267300 100151667 NG_007686,AL929470 U7.70 pseudo 2293228 RNU7-71P RNA, U7 small nuclear 71 pseudogene 18267300,9847074 100151668 NG_007687,AC004943 U7.71 pseudo 2293227 RNU7-72P RNA, U7 small nuclear 72 pseudogene 18267300 100151669 NG_007688,AL162615 U7.72 pseudo 2293226 RNU7-73P RNA, U7 small nuclear 73 pseudogene 18267300 100151670 NG_007689,AP006240 U7.73 pseudo 2293225 RNU7-74P RNA, U7 small nuclear 74 pseudogene 18267300,9847074 100151671 NG_007690,AC098869 U7.74 pseudo 2293224 RNU7-75P RNA, U7 small nuclear 75 pseudogene 18267300 100151672 NG_007691,AC025449 U7.75 pseudo 2293223 RNU7-76P RNA, U7 small nuclear 76 pseudogene 18267300,9847074 100151673 NG_007692,AC073115,CH236958 U7.76 pseudo 2293222 RNU7-77P RNA, U7 small nuclear 77 pseudogene 18267300 100151674 NG_007693,AL157783 U7.77 pseudo 2293221 RNU7-78P RNA, U7 small nuclear 78 pseudogene 18267300 100151675 NG_007694,AL121983 KIAA2025|U7.78 pseudo 2293220 RNU7-79P RNA, U7 small nuclear 79 pseudogene 18267300 100151676 NG_007695,AC104046 U7.79 pseudo 2293292 RNU7-7P RNA, U7 small nuclear 7 pseudogene 18267300 100147755 NG_007594,AF241726 U7.7 pseudo 2293219 RNU7-80P RNA, U7 small nuclear 80 pseudogene 18267300 100151677 NG_007696,AL136120 U7.80 pseudo 2293218 RNU7-81P RNA, U7 small nuclear 81 pseudogene 18267300 100151678 NG_007697,AC013414 U7.81 pseudo 2293217 RNU7-82P RNA, U7 small nuclear 82 pseudogene 18267300 100151679 NG_007698,AC079910 U7.82 pseudo 2293216 RNU7-83P RNA, U7 small nuclear 83 pseudogene 18267300,12853948 100151680 NG_007699,AC007567,CH236947 U7.83 pseudo 2293215 RNU7-84P RNA, U7 small nuclear 84 pseudogene 18267300 100151681 NG_007700,AC090579 U7.84 pseudo 2293214 RNU7-85P RNA, U7 small nuclear 85 pseudogene 18267300 100151682 NG_007701,AC016240 U7.85 pseudo 1353502 RNU7-86P RNA, U7 small nuclear 86 pseudogene 2249787 6073 NG_001189,AC002476,M35538 HSU7.7/32B|RNU7P2|U7 RNA, small nuclear U7 pseudogene 2|rna, u7 small nuclear pseudogene 2 pseudo 2293291 RNU7-8P RNA, U7 small nuclear 8 pseudogene 18267300 100147756 NG_007595,AC093575 U7.8 pseudo 2293290 RNU7-9P RNA, U7 small nuclear 9 pseudogene 18267300 100147757 NG_007596,AC007559 U7.9 pseudo 1351616 RNU7P3 RNA, small nuclear U7 pseudogene 3 18267300,10493829,2249787 6074 NG_001190,NG_007611,AC004125,M35539 HSU7.24|RNU7-24P|U7 rna, u7 small nuclear pseudogene 3 pseudo 1344372 RNU86 RNA, U86 small nucleolar Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968 116936 NR_000026,AJ238852,AL022326 U82|U86 snorna 1352429 RNY1 RNA, Ro-associated Y1 Y RNAs are small noncoding RNAs that were originally identified as the RNA component of soluble ribonucleoproteins (RNPs) termed Ro RNPs. Ro RNPs are detected by autoimmune sera of patients suffering from rheumatic diseases, such as from systemic lupus erythematosus (MIM 152700) and Sjogren syndrome (MIM 270200). Ro RNPs consist of a Y RNA that is associated with the autoimmune antigen proteins Ro60 (TROVE2; MIM 600063) and La (SSB; MIM 109090), as well as other proteins. Four human Y RNAs have been identified: Y1, Y3 (RNY3; MIM 601822), Y4 (RNY4; MIM 601823), and Y5 (RNY5; MIM 601824). (Y2 is a truncated form of Y1.) Y RNAs are transcribed by RNA polymerase III and range in size from 83 to 112 nucleotides. They appear to have a functional role in chromosomal DNA replication (Christov et al., 2006 [PubMed 16943439]).[supplied by OMIM] 16943439,8836182,6187471 6084 NR_004391,AC093743,V00584 HY1|Y1 rna, y1 small cytoplasmic (associated with ro protein) scrna 1347190 RNY3 RNA, Ro-associated Y3 17470436,8836182,6187471 6085 NR_004392,AC093743,V00585 HY3|Y3 rna, y3 small cytoplasmic (associated with ro protein) scrna 1350493 RNY4 RNA, Ro-associated Y4 17470436,8836182,7520568 6086 NR_004393,AC073140,L32608 HY4|Y4 rna, y4 small cytoplasmic (associated with ro protein) scrna 1342917 RNY4P1 RNA, Ro-associated Y4 pseudogene 1 1378808 6087 NG_005036,M77131,AL354795 hY4.B8 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 1 pseudo 2881096 RNY4P10 RNA, Ro-associated Y4 pseudogene 10 100379592 AL662824,AL844527,CR354565,CR759733,CR936877,AL645940,NG_016642 pseudo 2946881 RNY4P11 RNA, Ro-associated Y4 pseudogene 11 100379288 AL049646,NG_016612 pseudo 2922830 RNY4P12 RNA, Ro-associated Y4 pseudogene 12 100379329 AP003392,NG_016633 pseudo 2946879 RNY4P13 RNA, Ro-associated Y4 pseudogene 13 100379296 AC104996,NG_016628 pseudo 2881095 RNY4P14 RNA, Ro-associated Y4 pseudogene 14 100379584 AL596306,NG_016641 KIAA1134 pseudo 2946878 RNY4P15 RNA, Ro-associated Y4 pseudogene 15 100379291 AC092836,NG_016613 pseudo 3102666 RNY4P16 RNA, Ro-associated Y4 pseudogene 16 100431173 AL360294,NG_021236 pseudo 2881127 RNY4P17 RNA, Ro-associated Y4 pseudogene 17 9847074 100379564 AC021151,NG_016640 pseudo 2946875 RNY4P18 RNA, Ro-associated Y4 pseudogene 18 100379298 AC007157,NG_016630 pseudo 2293805 RNY4P19 RNA, Ro-associated Y4 pseudogene 19 100169834 NG_007997,AC093171 pseudo 1347955 RNY4P2 RNA, Ro-associated Y4 pseudogene 2 1378808 6088 NG_005037,AC055866,M77130 hY4.B7 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 2 pseudo 2922708 RNY4P20 RNA, Ro-associated Y4 pseudogene 20 100379378 AL033392,NG_016636 pseudo 1351444 RNY4P3 RNA, Ro-associated Y4 pseudogene 3 1378808 6089 NG_005038,AC007610,M77132 hY4.F2 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 3 pseudo 2946876 RNY4P4 RNA, Ro-associated Y4 pseudogene 4 100379297 AC128712,NG_016629 pseudo 2946874 RNY4P5 RNA, Ro-associated Y4 pseudogene 5 100379299 AC100873,NG_016631 pseudo 2946880 RNY4P6 RNA, Ro-associated Y4 pseudogene 6 100379287 AP000936,NG_016611 pseudo 2293815 RNY4P7 RNA, Ro-associated Y4 pseudogene 7 100169850 NG_008007,AC006011 pseudo 2946877 RNY4P8 RNA, Ro-associated Y4 pseudogene 8 100379295 AC068669,NR_033356 snrna 2922957 RNY4P9 RNA, Ro-associated Y4 pseudogene 9 100379300 AL136123,NG_016632 pseudo 1345142 RNY5 RNA, Ro-associated Y5 18056422,8836182,7520568 6090 NR_001571,AC073140,U64824 Y5 rna, y5 small cytoplasmic (associated with ro protein) scrna 2859134 RNY5P1 RNA, Ro-associated Y5 pseudogene 1 100379666 AL356362,NG_016725 pseudo 2293802 RNY5P10 RNA, Ro-associated Y5 pseudogene 10 100169837 NG_008006,AD000813 pseudo 3322038 RNY5P2 RNA, Ro-associated Y5 pseudogene 2 100381208 AC020550,NG_016767 pseudo 2859129 RNY5P3 RNA, Ro-associated Y5 pseudogene 3 100379664 AC117476,NG_016720 pseudo 3516304 RNY5P4 RNA, Ro-associated Y5 pseudogene 4 9847074 100380271 AC079857,NG_016727 pseudo 2859128 RNY5P5 RNA, Ro-associated Y5 pseudogene 5 100379658 AL590084,NG_016705 pseudo 2859127 RNY5P6 RNA, Ro-associated Y5 pseudogene 6 100379663 AC113191,NG_016719 pseudo 2293804 RNY5P7 RNA, Ro-associated Y5 pseudogene 7 100169835 NG_007998,AL135794 pseudo 3398732 RNY5P8 RNA, Ro-associated Y5 pseudogene 8 100380878 AL157769,NG_016734 pseudo 2293803 RNY5P9 RNA, Ro-associated Y5 pseudogene 9 100169836 NG_007999,AC012183 pseudo 1606308 ROBLD3 roadblock domain containing 3 The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16710414,15489334,12477932,11266467,11042152,20381137 28956 NM_014017,NM_001145264,NG_009898,AL355388,CH471121,AF070659,AK307086,BC024190,BM353842,BU184679,CA438137,DB566869 NP_054736,NP_001138736,CAH72635,CAH72636,CAH72637,EAW53004,AAD20965,AAH24190,Q5VY98,Q9Y2Q5,ABM83891,ABM87211 Hs.632483 ENDAP|HSPC003|MAPBPIP|MAPKSP1AP|RP11-336K24.9|p14 MAPKSP1 adaptor protein|endosomal adaptor protein p14|late endosomal/lysosomal Mp1-interacting protein|mitogen-activated protein-binding protein-interacting protein|mitogen-activated protein-binding protein-interacting protein (MAPBPIP)|roadblock domain-containing protein 3 protein-coding 735617 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2314868,2316136 11748139,15207848,18566128,18829537,19351956,19706539,20029409,20068157,20071679,20298689,20300657,20379614,9608531,19104841,19023125,18948384,18464913,18387595,18270976,17968499,17848514,17671369,17671114,17081983,17062560,16740745,16685377,16641997,16636676,16254601,15489334,15342556,14702039,12892710,12477932,12471613,12082532,11672528,10892742,20438712,20471383,20949370,21041608,9458045,12504588,10433822,10102268,9796701,16169070,20816195,20936779 2314868,2316136 6091 NM_002941,NM_133631,NG_011729,NM_001145845,AC016946,AC055731,AC106718,AC106720,AC108719,AC117461,AC117479,AC119035,AC123565,AC125624,AC125766,AC125815,AC131008,CH471110,Z95705,AF040990,AK025535,AK095256,AK297481,AK299920,BC001969,BC029676,BC112336,BC115020,BC115022,BC157861,BC171855,BP228659,BX538319,DR003097 NP_002932,NP_598334,NP_001139317,EAW68884,EAW68885,EAW68886,EAW68887,EAW68888,AAC39575,BAG59902,BAH13173,AAH01969,AAI12337,AAI15021,AAI15023,AAI57862,AAI71855,CAD98093,Q1RMC7,Q1RMC8,Q2M1J3,Q9Y6N7 Hs.13640 DUTT1|FLJ21882|MGC131599|MGC133277|SAX3 OTTHUMP00000213706|OTTHUMP00000213707|OTTHUMP00000213708|deleted in U twenty twenty|roundabout homolog 1|roundabout homolog 1 (drosophila) protein-coding 736256 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) This gene belongs to the ROBO family, part of the immunoglobulin superfamily proteins that are highly conserved from fly to human. The encoded protein is a receptor for SLIT2, molecules known to function in axon guidance and cell migration. Defects in this gene are the cause of vesicoureteral reflux type 2. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 61733,1580863,2316136 9458045,12504588,10197527,15130495,19350278,19240061,19023125,18270976,18235093,17357069,16829019,12477932,15489334,10997877,10102268,16169070,11748139,11754167,15207848,16713569,18464913,18566128,19959718,20029409,20201926,20345837,20379614 61733,2316136 6092 NM_002942,NM_001128929,AC016952,AC117515,AC117516,AC131005,AC133040,AC138974,CH471110,AB046788,AF040991,AK074780,AK301176,BC064374,BC144302,BC144303,BC144306,BC146772,BX648828,DQ533873,DQ533874,NG_027734,AC126467,AC016942,AC024256,AC026877,AC067717,AC117514,AC130004,AC131154 NP_002933,NP_001122401,EAW68889,BAB13394,AAC39576,BAC11205,BAG62763,AAH64374,AAI46773,ABF83430,ABF83431,Q19AB5,Q8NCE6,Q9HCK4 Hs.13305 KIAA1568|SAX3 OTTHUMP00000213687|OTTHUMP00000213702|roundabout (axon guidance receptor, drosophila) homolog 2|roundabout homolog 2 protein-coding 1322248 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) 2316136 20298552,14702039,12477932,12177379,9373149,8125298,15824346,15105459,19041479,18829051,18270976,17671968,16525029,16226035 2316136 64221 NM_022370,AP003501,CH471065,AK024697,AK225076,AK291045,AK295475,AK298792,AY509035,BC008623,BC086878,BC113744,N80769,NG_016214 NP_071765,EAW67602,EAW67603,EAW67604,EAW67605,EAW67606,EAW67607,EAW67608,EAW67609,BAB14966,BAF83734,BAG58402,BAG60929,AAS91662,AAH08623,Q96HH0,Q96MS0,Q9H7C7,AAI48594 Hs.435621 FLJ21044|HGPPS|HGPS|RBIG1|RIG1 retinoblastoma inhibiting gene 1|roundabout homolog 3|roundabout-like protein 3 protein-coding 1345935 ROBO4 roundabout homolog 4, magic roundabout (Drosophila) 1580863 14527427,15849270,15894287,18980679,18948384,18519813,18270976,17671968,17496152,17495228,16685377,16335952,15489334,14702039,12975309,12941633,12477932,11944987,11076864,20375003,19495426,19855388 54538 BC064643,AP003501,CH471065,AF361473,AK000805,AK025195,AK027852,AK074163,AK289769,AK297845,AK302628,AY358083,BC014995,BC025675,BC039602,NM_019055,BC111562,BC111748,DC424813 NP_061928,EAW67610,EAW67611,EAW67612,EAW67613,AAL31867,BAA91382,BAB15082,BAB55411,BAB84989,BAF82458,BAG60179,BAG63870,AAQ88450,AAH39602,AAH64643,AAI11563,AAI11749,Q8WZ75 Hs.524121 ECSM4|FLJ20798|MGC133352|MGC133353|MRB roundabout homolog 4 protein-coding 733751 ROCK1 Rho-associated, coiled-coil containing protein kinase 1 This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. [provided by RefSeq] 2298875,1642807,1580863 16983089,19420982,19404162,19181962,19160018,19131646,19036714,19001122,18952846,18948190,18946488,18941185,18922892,18852895,18780293,18713748,18695890,18694941,18684864,18668558,18648664,18615591,18499753,18495812,18477564,18353901,18331468,18239683,18204440,18187541,18079197,17855350,17853893,17728102,17673200,17651694,17346310,17344417,17244674,17174923,17172270,17167780,17138966,17044646,17028776,17012370,16978606,16891369,16825579,10436159,12082081,16784244,16772336,16760434,16712513,16687572,16543245,16413470,16407310,16371346,16344560,16141422,15956119,15910744,15855233,15843433,15723050,15713824,15665056,15647781,15611088,15494373,15252450,15247219,15231748,15208091,15096506,15044207,14962675,14718574,14716844,14702039,14660612,14657354,14610060,14517206,12850840,12778124,12773565,12749591,12729902,12600888,12563012,12482610,12477932,12220642,12193698,12177195,12034773,11992112,11931630,11893932,11818523,11751986,11739394,11387207,11340065,11283607,11018042,10970850,10818093,10652353,10601309,10579722,10574968,10559936,10508479,10209029,9856983,9722579,9565595,9516463,9456324,9354661,9099667,8816443,8617235,7822264,2155236,2114109,12748184,15797222,15793569,16249185,8798490,20223287,20734064,21048031,20801872,20801873,20126978,19913121,20130732,16123592,16862148,17643375,18396681,19167712,19403695,19549780,19406912,19590140,19667069,19997641,20039424,20053635,20056178,20056645,20064505,20068229,20140017,20379197,20682776,20070312 2298875,1642807 6093 NM_005406,AC022795,AC036178,CH471088,AB208965,AK057038,AK307388,AU121527,BC113114,DQ786321,U43195 NP_005397,EAX01119,BAD92202,AAI13115,AAB02814,Q13464,Q49AA3,Q9H378 Hs.306307 MGC131603|MGC43611|P160ROCK|PRO0435 Rho kinase|p160 ROCK-1|p160-ROCK|renal carcinoma antigen NY-REN-35|rho-associated kinase beta|rho-associated protein kinase 1|rho-associated, coiled-coil-containing protein kinase 1 protein-coding 2837591 ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 12477932,16344560,20398283 727758 AP001005,BC041849,DB095042,NR_033770 AAH41849 Hs.585843 pseudo 731503 ROCK2 Rho-associated, coiled-coil containing protein kinase 2 The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq] 1642807,1580863 17167780,20951699,20504226,20961215,17353931,9933571,19422706,19205033,19181962,19131646,19099536,18971541,18922892,18695890,18668558,18496125,18495812,18331468,17596509,17446864,17344417,17081983,17012370,16996686,16964243,16585408,16531242,15699075,15302935,15044207,12600888,12482610,12477932,12185584,12176052,12126956,12102637,11931630,10601309,9734811,9463375,11350930,15797222,20232393,12220642,12563012,15121898,17137291,19435756,19590140,19997641,20056178,20164172,20181930,20346360,8617235,20429915,20939434,19913121,20628086 1642807 9475 AC018463,AC099344,CH471053,AB014519,AK299296,AK310358,BC111801,BG539531,CD652480,D87931,NM_004850 NP_004841,AAX93049,AAY14825,EAX00937,EAX00938,BAA31594,BAG61311,AAI11802,BAA75636,O75116,Q14DU5 Hs.58617 KIAA0619 OTTHUMP00000200599|p164 ROCK-2|rho kinase 2|rho-associated coiled-coil forming kinase 2|rho-associated protein kinase 2|rho-associated, coiled-coil-containing protein kinase 2 protein-coding 732344 ROD1 ROD1 regulator of differentiation 1 (S. pombe) ROD1 is a functional homolog of nrd1, an S. pombe RNA-binding protein that suppresses the onset of differentiation.[supplied by OMIM] 704461 10207106,19441079,15489334,14702039,12477932,15146197,20379614 704461 9991 NM_005156,AL158824,CH471105,AB023967,AK001685,AK302558,BC039896,BC044585,BC045825,BI463123,BQ006891,BX422279,CR596589,CR749471,AL359073,AL710523,CN371677,NM_001163788,NM_001163790 NP_005147,CAI12349,CAI12350,CAI12351,CAI12353,CAI12354,CAI14112,EAW59099,EAW59100,EAW59101,EAW59102,BAA75466,BAG50959,BAG63824,AAH39896,AAH44585,CAH18301,O95758,NP_001157260,NP_001157262,CAI14113,CAI14114 Hs.269988 DKFZp781I1117|PTBP3 OTTHUMP00000021931|OTTHUMP00000021932|fission yeast differentiation regulator|regulator of differentiation 1 protein-coding 1603007 ROGDI rogdi homolog (Drosophila) 11256614,16381901,16169070,15489336,14702039,12477932,11230166,11076863 79641 NM_024589,AC020663,CH471112,AK026039,AK054707,AK098348,AL136675,BC012901,CR457355,CR533547,CR592312,CR603174,CR608501,CR616895,CR618679,CR621340 NP_078865,EAW85258,EAW85259,EAW85260,EAW85261,BAB15331,BAG51413,CAB66610,AAH12901,CAG33636,CAG38578,Q9GZN7,CAL38033 Hs.459795 FLJ22386 leucine zipper domain protein|protein rogdi homolog protein-coding 1314474 ROM1 retinal outer segment membrane protein 1 This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq] 1580863 1610568,16554811,15489334,12477932,11641407,11559856,8938448,8889548,8595413,8504299,8202715,7904211,1415249,1302019,10681511,9331261,17207965,20801516,20335603 6094 NM_000327,NG_009845,AP001458,CH471076,M96759,AK313674,BC008100,BC036268,BU731899,DC335199,L07894 NP_000318,EAW74041,AAA60272,BAG36425,AAH08100,AAA60274,Q03395,ADQ32765 Hs.281564 ROM|ROSP1|RP7|TSPAN23 rod outer segment membrane protein 1|tetraspanin-23|tspan-23 protein-coding 1349152 ROMO1 reactive oxygen species modulator 1 18836179,18313394,16842742,19535734,17537404,15489334,15342556,12477932,11780052,20203691,20736409,19513905,19904609,20877624 140823 GU727625,NM_080748,AL357374,CH471077,AK000548,AM397244,AM397245,AM397246,BC008488,BC105281,BM353595 ADU87627,NP_542786,CAC11117,CAI13604,EAW76168,EAW76169,CAL37002,CAL37003,CAL37004,AAH08488,AAI05282,P60602 Hs.472564 C20orf52|MGC111180|MTGMP|bA353C18.2 OTTHUMP00000062053|ROS modulator 1|mitochondrial targeting GXXXG protein|protein MGR2 homolog|reactive oxygen species modulator 1 protein-coding 1345670 RONU Rowett nude 5492 1344223 ROPN1 ropporin, rhophilin associated protein 1 1580863 17551920,12477932,11278869,10591629,20107840 54763 NM_017578,AC117381,CH471052,AF303889,AL133624,BC132744,BC132746,HC007266 NP_060048,EAW79425,EAW79426,EAW79427,AAG27712,CAB63750,AAI32745,AAI32747,Q9HAT0,ADR82868,CBH19438 Hs.567516 CT91|DKFZp434B1222|ODF6|RHPNAP1|ROPN1A|ropporin cancer/testis antigen 91|outer dense fiber of sperm tails 6|rhophilin-associated protein 1A|ropporin, rhophilin associated protein 1|ropporin-1A protein-coding 1603561 ROPN1B ropporin, rhophilin associated protein 1B 11278869,12477932,10591629 152015 NM_001012337,AC092903,CH471052,AF231410,BC015413,BC141849,HC007268,HC044759 NP_001012337,EAW79382,EAW79383,AAG59586,AAH15413,AAI41850,Q9BZX4,AAI40023,CBH19439,CBH30709 Hs.663128 AKAP-binding sperm protein ropporin|OTTHUMP00000222455|rhophilin-associated protein 1B|ropporin, rhophilin associated protein 1B|ropporin-1B protein-coding 1319640 ROPN1L ropporin 1-like The protein encoded by this gene is a sperm protein, which interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Type II regulatory subunit of cAMP-dependent protein kinase (PKARII) also binds to this helix domain of AKAP3, which allows PKARII to be targeted to specific subcellular compartments. It is suggested that sperm contains several proteins that bind to AKAPs in a manner similar to PKARII, and this encoded protein may be one of them. [provided by RefSeq] 737633 12477932,11278869,15489335 737633 83853 NM_031916,AC092336,CH471102,AF239723,AK026656,AK098642,BC014607,BX113042,CR621673,CV024170,DB479784,NM_001201466 NP_114122,EAX08063,EAX08064,AAG59587,BAB15517,AAH14607,Q96C74,Q9H5V2,NP_001188395 Hs.381089 ASP|FLJ23003|FLJ25776|RSPH11 AKAP-associated sperm protein|OTTHUMP00000221153|ROPN1-like protein|radial spoke head 11 homolog|ropporin 1-like|ropporin-1-like protein protein-coding 1352147 ROR1 receptor tyrosine kinase-like orphan receptor 1 The protein encoded by this gene is a receptor protein tyrosine kinase that modulates neurite growth in the central nervous system. It is a type I membrane protein and belongs to the ROR subfamily of cell surface receptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 8875995,1334494,18604725,18546292,18354269,18287027,18223214,16710414,15654020,12477932,11713269,9143508,19488044,20379614,20702778,19913121,20628086,20634891,20686606 4919 NM_005012,NM_001083592,AL137859,AL138793,AL161742,AL353713,AL445205,AL808029,AL808030,CH471059,AK308088,AK309189,BC006374,BC080541,BC128386,M97675 NP_005003,NP_001077061,CAC17591,CAI21732,CAI21931,CAI21932,CAH71705,CAH71706,EAX06555,EAX06556,EAX06557,AAH80541,AAI28387,AAA60275,Q01973,Q66K77,AAI56512,AAI72555 Hs.654491 MGC99659|NTRKR1|dJ537F10.1 neurotrophic tyrosine kinase receptor-related 1|neurotrophic tyrosine kinase, receptor-related 1|tyrosine-protein kinase transmembrane receptor ROR1 protein-coding 1313207 ROR2 receptor tyrosine kinase-like orphan receptor 2 The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq] 1580863 1334494,19135982,18831060,18703641,18615587,18365018,18215320,17996904,17717073,17668388,17665217,17619808,17101003,17095577,15654020,15388793,15164053,14752058,12919145,12839624,12815588,12754255,12477932,12011143,11062486,10986040,10932187,20591152,10700182,9973296,10932186,19448672,19453261,19461659,19486338,19533773,19561643,19640924,19724895,19802008,19851296,20185829,20198315,20098747,20634891 4920 NM_004560,NG_008089,AF254747,AF254748,AF254749,AF254750,AF254751,AF254752,AF254753,AF279755,AF279756,AF279757,AF279758,AF279759,AF279760,AF279761,AF279762,AF294796,AL391219,AL583841,AL591214,AL928802,CH471089,AA626834,AB209154,BC033697,BC051273,BC126454,BC130522,M97639,AA463746,BI089313,BQ446244 NP_004551,AAG33132,AAG01184,CAH70208,CAI15694,CAH71099,CAI17302,CAI17303,EAW62798,EAW62799,EAW62800,EAW62801,EAW62802,BAD92391,AAI30523,AAA60276,Q01974 Hs.98255,Hs.644776 BDB|BDB1|MGC163394|NTRKR2 neurotrophic tyrosine kinase receptor-related 2|neurotrophic tyrosine kinase, receptor-related 2|tyrosine-protein kinase transmembrane receptor ROR2 protein-coding 1318175 RORA RAR-related orphan receptor A The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 20733416,20211758,16713569,17545671,7926749,18658046,17512500,16632463,16539693,16189514,15886715,15790933,15781255,15662020,15489334,15013753,14742449,14741380,14722075,12477932,12377782,12168086,12114512,11121580,10900268,10478845,9862959,8858107,7935491,7916608,7838158,7706239,7490103,19913121,20375269,20628086,20800221,19324970,20860503,14701856,14702039,15604093,19041634,19693801,19846067,19909500,19965867,20072116,20122401,20174623,20332535,20379614,21102462,21116278,21060049 6095 NM_134261,NM_134260,NM_002943,NM_134262,AC009560,AC012404,AC022898,AC079068,AC087385,AC107241,AC107905,CH471082,CQ834188,CQ834190,CQ834192,CQ834194,AL530219,AL532048,AL832164,BC008831,BC033285,BC035094,BC048264,BC100987,BC100988,BC100989,BC100990,BG705319,CR591459,CR611772,DB482516,L14611,U04897,U04898,U04899,AB307694,AK055969 NP_599023,NP_599022,NP_002934,NP_599024,EAW77593,EAW77594,EAW77595,EAW77596,CAH05309,CAH05310,CAH05311,CAH05312,AAH08831,AAI00988,AAI00989,AAI00990,AAI00991,AAA02963,AAA62658,AAA62659,AAA62660,P35398,Q495X4,BAH02285 Hs.560343,Hs.655155 DKFZp686M2414|MGC119326|MGC119329|NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRA RAR-related orphan receptor alpha|ROR-alpha|nuclear receptor ROR-alpha|nuclear receptor RZR-alpha|nuclear receptor subfamily 1 group F member 1|retinoic acid receptor-related orphan receptor alpha|retinoid-related orphan receptor alpha|retinoid-related orphan receptor-alpha|transcription factor RZR-alpha protein-coding 1315588 RORB RAR-related orphan receptor B The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation. [provided by RefSeq] 1580863 15604093,19839995,19909500,20201926,20379614,7926749,885817,8858107,7935491,15164053,12958591,12477932,11849752,11689423,11504880,11121580,10860982,9670004,8905729,8889548,8816759 6096 AB307695,NM_006914,AL137018,AL355674,CH471089,AK313431,AL118995,AL691650,BC051830,BC093772,BC093774,BM669680,BM698896,BX647070,CR594193,Y08639 BAH02286,NP_008845,CAD13276,CAD13280,EAW62552,BAG36222,AAH51830,AAH93772,AAH93774,CAA69929,Q92753,ABZ92181 Hs.494178 NR1F2|ROR-BETA|RZR-BETA|RZRB|bA133M9.1 RAR-related orphan receptor beta|nuclear receptor ROR-beta|nuclear receptor RZR-beta|nuclear receptor subfamily 1 group F member 2|retinoic acid-binding receptor beta|retinoid-related orphan receptor beta|retinoid-related orphan receptor-beta protein-coding 1317896 RORC RAR-related orphan receptor C The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10405182,15144897,15604093,19648312,19692128,19965867,20379614,20427770,10602018,9403063,9373149,8125298,7811290,20203100,20106535,20211758,19449310,19439651,19112760,19029904,18564921,18434325,17504012,17240331,16381901,15489336,15489334,14702039,12855222,12477932,11983153,11230166,11076863,10963675,10875923,16712791 6097 NM_001001523,AL589765,CH471121,AB307696,AF075096,AK097994,AK128522,AK223137,AK298460,AK315662,NM_005060,AL834219,AW004872,BC031554,BC110571,BI520481,CB161467,CR457436,U16997 NP_005051,NP_001001523,CAI17179,CAI17180,EAW53405,EAW53406,BAH02287,BAG53561,BAD96857,BAG60673,BAG38028,CAD38900,AAH31554,AAI10572,CAG33717,AAA64751,P51449,Q53FZ4,Q6I9R9,CAL38693,CAL38751,ABM81731,ABM84886 Hs.256022,Hs.607993 MGC129539|NR1F3|RORG|RZR-GAMMA|RZRG|TOR RAR-related orphan receptor C, isoform a|RAR-related orphan receptor gamma|nuclear receptor ROR-gamma|nuclear receptor RZR-gamma|nuclear receptor subfamily 1 group F member 3|retinoic acid-binding receptor gamma|retinoid-related orphan receptor gamma|retinoid-related orphan receptor-gamma 2314803 GLUCO119_H protein-coding 736329 ROS1 c-ros oncogene 1 , receptor tyrosine kinase This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq] 1580863 14574404,2827175,3785223,19056482,18676680,18566305,18506375,18097620,18083107,17975119,17967605,17275003,16761743,16175505,15456853,15235104,20098747,12538861,11266449,11094073,8675006,3115921,3023956,2691958,2352949,1611909,12661006,10958799,12477932,19023099,19170196,19578796,19625176,19692168,19709766,19863298,20379614 6098 NM_002944,AL132671,CH471051,M13599,Z98880,BC144556,M13880,M34353,X51619 NP_002935,CAI23378,CAI23379,EAW48208,EAW48209,AAA60277,CAI42373,CAI42374,CAI42375,AAA36580,AAA60278,P08922,Q5H8Y3,AAI66687 Hs.1041 MCF3|ROS|c-ros-1 proto-oncogene c-Ros-1|proto-oncogene tyrosine-protein kinase ROS|transmembrane tyrosine-specific protein kinase|v-ros UR2 sarcoma virus oncogene homolog 1|v-ros avian UR2 sarcoma virus oncogene homolog 1 protein-coding 1346819 RP spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit 6099 1318061 RP1 retinitis pigmentosa 1 (autosomal dominant) Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'. The data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology. There is evidence for at least one transcript variant that overlaps the current reference sequence and which has several exons upstream and downstream of the current reference sequence. However, the full-length nature of this variant cannot be determined at this time. [provided by RefSeq] 1580863 10391211,18552984,18347624,17286855,16568030,16185528,15980210,15863674,15183808,14702039,12882812,12764676,12048676,11790298,11773008,10401003,10391212,10188731,1783394,16869982,19657028,20236041,20664799,18997786,19933189,20801516 6101 NM_006269,NG_009840,AC090137,AC090151,AC091076,AF128525,AF143226,AF152242,AY672590,CH471068,AF141021,AF143222,AF146592,AK098176,AK302348,AK304443,AK316511,DQ980612,DQ980613,DQ980614,DQ980615 NP_006260,AAD44197,AAD46774,AAT75005,EAW86749,AAD42072,AAD44198,AAD46769,BAG53587,BAG63675,BAG65264,BAH14882,ABJ97137,ABJ97138,ABJ97139,ABJ97140,A0FDN2,P56715,Q6DKV0,AAI56508,AAI72506 Hs.128938,Hs.721169 DCDC4A|FLJ50293|FLJ55454|FLJ79410|ORP1 oxygen-regulated protein 1|retinitis pigmentosa 1 protein|retinitis pigmentosa RP1 protein protein-coding 1354228 RP10 retinitis pigmentosa 10 (autosomal dominant) 8513324 6105 1601768 RP11-529I10.4 deleted in a mouse model of primary ciliary dyskinesia 17207965,17353931,16189514,14630615,12477932,16385451,17643375 25911 AL627424,CH471066,AK290154,AL110240,AY532267,BC001082,BC031695,NM_015448 ADQ32437,NP_056263,CAI41039,CAI41040,CAI41041,EAW49754,EAW49755,BAF82843,CAB53691,AAS46252,AAH01082,AAH31695,Q9BVM2,ACE86949,ACE87638,Q5JQQ4 Hs.658128 DKFZp566F084|RP11-529I10.4 OTTHUMP00000020331|deleted in a mouse model of primary ciliary dyskinesia|protein DPCD protein-coding 1352623 RP17 retinitis pigmentosa 17 (autosomal dominant) 7581389 6111 1319776 RP1L1 retinitis pigmentosa 1-like 1 1580863 14702039,12724644,12634863,16869982,17655910,18716609,19657028,20236041,20826268,17474147 94137 NM_178857,AC104964,AC105001,AJ491324,AY168341,AY168342,AY168343,AY168344,AY168345,AY168346,NG_028035 NP_849188,CAD36957,AAN86959,AAN86960,AAN86961,AAN86962,AAN86963,AAN86964,Q8IWN7 Hs.33538 DCDC4B retinitis pigmentosa 1-like 1 protein protein-coding 1345059 RP2 retinitis pigmentosa 2 (X-linked recessive) The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq] 1580863,1599605 17207965,20801516,9697692,17724181,17093403,17081983,16969763,16936086,16472755,16457815,16344560,15772651,15489334,14566651,14564670,12657579,12477932,11992260,11847227,11798852,11462235,10942419,10937588,10862093,10634633,10520237,10090907,10053026,8938433,6325945,2876947,18376416,20625056,19516003,19852809,20021257,20106869,12417528 1599605 6102 NM_006915,NG_009107,AL050307,AL627143,CH471164,AJ007590,AK312555,AL049366,BC027851,BC043348,BC053530,DA211161 ADQ33082,NP_008846,CAB82030,EAW59275,CAA07577,BAG35452,AAH43348,AAH53530,O75695 Hs.44766 DELXp11.3|KIAA0215|NME10|TBCCD2|XRP2 protein XRP2 protein-coding 1346565 RP21 retinitis pigmentosa 21 9135384 8020 1350078 RP22 retinitis pigmentosa 22 (autosomal recessive) 9545639 6114 1350835 RP23 retinitis pigmentosa 23 (X-linked recessive) 6115 1354304 RP24 retinitis pigmentosa 24 (X-linked recessive) 9792872 6116 1345668 RP25 retinitis pigmentosa 25 (autosomal recessive) 9585594,10417302 8414 1350951 RP28 retinitis pigmentosa 28 (autosomal recessive) 10507729 23680 1343032 RP29 retinitis pigmentosa 29 (autosomal recessive) 54110 1606261 RP5-1022P6.2 hypothetical protein KIAA1434 20576599,15489334,14702039,12477932,11780052,10718198 56261 NM_019593,AL109935,CH471133,AB037855,AK001947,AK308111,AL049446,AL833069,BC027588,BG674365,BI561344,BP421674,CR623938,T79323 NP_062539,CAB91047,CAI18905,EAX10413,EAX10414,EAX10415,EAX10416,BAA92672,BAA91994,AAH27588,Q9NPB8,Q5QPF0 Hs.636359 FLJ11085|GDE5|GDPD6|KIAA1434|MGC26147|PREI4|RP5-1022P6.2 glycerophosphodiester phosphodiesterase 5|preimplantation protein 4|putative glycerophosphocholine phosphodiesterase GPCPD1|putative glycerophosphodiester phosphodiesterase 5 protein-coding 1346635 RP6 retinitis pigmentosa 6 (X-linked recessive) 6104 1342620 RP9 retinitis pigmentosa 9 (autosomal dominant) 1580863 15652350,15556297,15541726,15489334,15474994,12690205,12477932,12032732,10931201,8513323,8079997,16671097,20801516 6100 NM_203288,AACC02000103,AC074338,AX016710,CH471073,BC025928,NG_012968 NP_976033,EAL24465,EAW94012,EAW94013,EAW94014,AAH25928,Q8TA86,ABZ92536 Hs.326805 PAP-1 OTTHUMP00000202860|Pim-1 kinase associated protein|pim-1-associated protein|retinitis pigmentosa 9 protein protein-coding 2289743 RP9P retinitis pigmentosa 9 pseudogene 12477932 441212 NR_003500,AC018648,AC083863,CH471073,AF274938,AK091223,BC036907,BC050570 EAW94003,AAK07516,Q9BZU6 Hs.648086 FLJ33904 pseudo 1316541 RPA1 replication protein A1, 70kDa 2306716,1580863 20167590,20515732,20575039,20616048,12171929,1311258,10825162,15897895,8756712,10583946,9111189,16135809,18029348,9826763,10214908,11080452,11473323,19530647,19367581,19297315,19262689,19237606,19187036,19165145,19104052,18774935,18723675,18593712,18522944,18515800,18469000,18438969,18245774,18003706,17981954,17765923,17721672,17700070,17700069,17616578,17591703,17583916,17507928,17494052,17110927,16893181,16731533,16522650,16520097,16438930,16169070,16082227,15965237,15735006,15653682,15620706,15489334,15456284,15279788,15273694,15180989,15096578,14966274,14747526,14605214,14596605,14499497,12791985,12754299,12621583,12614612,12486030,12477932,12181327,20562859,20423048,12077133,12050365,11972036,11968016,11950880,11927569,11895905,11884592,11751427,11479296,11254741,11092888,11063722,10473346,10373438,10064605,9461578,9396813,9121429,8990123,8454588,8020972,7760808,7565690,2050703,9084803,16306615,9443979,12181313,15489903,17296725,15856006,12973351,12527904,10608806,15205463,12139939,16251902,19419957,19515846,19538122,19586055,19812417,19854130,20103649,20139621,20184389,20233725,20347428,20395205,20496165,20522537,8361542,8798463,19843584,20528769,16872911,17035231,19059499,19661379,20819778,21077165 2306716 6117 NM_002945,AC130689,AY599563,CH471108,AB209732,AF167994,AK289704,BC018126,CR592316,CR615851,M63488 NP_002936,AAS94324,EAW90574,BAD92969,AAQ13598,BAF82393,AAH18126,AAA36584,P27694,Q7Z4G2,ADR83314 Hs.461925,Hs.595562 HSSB|MST075|REPA1|RF-A|RP-A|RPA70 MSTP075|RF-A protein 1|RP-A p70|replication factor A protein 1|replication protein A 70 kDa DNA-binding subunit|single-stranded DNA-binding protein protein-coding 1344829 RPA2 replication protein A2, 32kDa 2306716,1580863 10449415,10393198,10064605,9461578,9295339,9139719,9045683,8454588,8020972,7565690,1318195,16956949,9084803,17525332,7760808,12139939,15856006,11000264,12791985,19386720,19586055,19671522,19704001,19834905,20130019,20154705,20201926,20347428,20496165,20522537,18029348,19661379,19666485,21077165,12509449,15897895,2406247,10583946,9111189,16135809,9826763,10214908,11080452,11473323,19237606,17928296,17583916,17035231,16710414,16169070,15793585,15489334,15205463,12814551,12754299,12614612,12477932,11927569,11731442,11173472,11081631,10982866,10875894,10655057,10653628,20562859 2306716 6118 NM_002946,AL109927,CH471059,DQ001128,AK298759,AK300691,AK312956,BC001630,BC012157,BC021257,CR450348,CR590863,CR594823,CR612693,J05249 NP_002937,CAI21774,CAI21775,CAI21776,CAI21777,CAI21778,EAX07724,AAX84514,BAG60901,BAG62374,BAG35795,AAH01630,AAH12157,AAH21257,CAG29344,AAA36560,P15927,Q5TEJ0,Q5TEJ7,ABM83278,ABM86747 Hs.79411,Hs.703070 REPA2|RPA32 OTTHUMP00000004010|RF-A protein 2|RP-A p32|RP-A p34|replication factor A protein 2|replication protein A 32 kDa subunit|replication protein A 34 kDa subunit protein-coding 1352599 RPA2P replication protein A2 pseudogene 326628 NG_002610,AL359951 pseudo 1315635 RPA3 replication protein A3, 14kDa 2306716,1580863 20575039,9084803,20562859,8454588,12791985,10583946,9111189,18029348,9826763,10214908,11080452,11473323,19237606,19010961,18270339,17494052,15489334,12853948,12690205,12614612,12477932,11927569,11173472,11081631,10473346,9847074,9461578,8020972,7760808,17353931,20201926,20496165,20522537,17035231,19666485,21077165 2306716 6119 NM_002947,AC004948,AC007161,CH236948,CH471073,DQ003136,AK311842,BC005264,BC009868,BT007320,CR610107,L07493 NP_002938,AAQ96878,EAL24304,EAW93603,EAW93604,EAW93605,AAX84517,BAG34784,AAH05264,AAH09868,AAP35984,AAA58350,P35244 Hs.487540 REPA3 OTTHUMP00000200930|OTTHUMP00000200931|OTTHUMP00000200992|RF-A protein 3|RP-A p14|replication factor A protein 3|replication protein A 14 kDa subunit protein-coding 1350001 RPA4 replication protein A4, 34kDa Replication protein A (RPA) is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. This gene encodes the 32-kDa subunit of the RPA, which associates with the 70- and 13-kDa subunits to form a trimeric RPA complex. [provided by RefSeq] 2306716,1580863 17207965,7760808,18676680,15929725,15772651,15489334,12477932,11092888,7565690,9084803,19116208,19170196,19692168,19942684,19996105 2306716 29935 NM_013347,AF494047,Z86061,BC069791,BC069808,BC069824,BC104013,BC104014,U24186,CH471115,NG_013259 ADQ32894,NP_037479,AAM09569,CAI42256,AAH69791,AAH69808,AAH69824,AAI04014,AAI04015,AAB08488,Q13156,ACE87774,ACT64440,EAX02794 Hs.659349 HSU24186|MGC120333|MGC120334 RF-A protein 4|RP-A p30|replication factor A protein 4|replication protein A 30 kDa subunit|replication protein A complex 34 kd subunit homolog Rpa4|replication protein A4, 34kDa protein-coding 1604268 RPAIN RPA interacting protein 12477932,9373149,8125298,17207965,18029348,16135809,19336370,16344560,16008515,15489334,14702039,20237496 84268 NM_001160243,NM_001160244,NM_001160246,NM_001160266,NM_001160267,NR_027678,NR_027679,NR_027680,NR_027681,NR_027682,NR_027683,NR_027684,NR_027685,AC004148,CH471108,NM_001033002,CS300549,AA745783,AK055052,AK096001,AK098491,AK226044,AK295394,AK300409,AW268632,AY680654,AY680655,AY680656,AY680657,AY680658,AY680659,AY680660,AY775314,AY775315,AY775316,AY775317,AY775318,AY775319,AY775320,AY775321,AY775323,BC004451,BC013831,BC046349,BC051849,BC062623,BG059980,BI091755,CK005117,CR605756,CR612912,DA349558,N41653 NP_001028174,NP_001153715,NP_001153716,NP_001153718,NP_001153738,NP_001153739,EAW90338,ADQ33045,CAK32213,BAG53195,BAC05317,BAG58348,BAG62139,AAT80872,AAT80873,AAT80874,AAT80875,AAT80876,AAT80877,AAT80878,AAX14368,AAX14369,AAX14370,AAX14371,AAX14372,EAW90339,AAX14373,AAX14374,AAX14375,AAX14377,AAH46349,AAH51849,Q86UA6,AAH04451 Hs.462086,Hs.555866 FLJ25625|FLJ30490|FLJ42429|HRIP|MGC4189|RIP RAP interaction protein|RPA-interacting protein|nuclear transporter protein-coding 1342806 RPAP1 RNA polymerase II associated protein 1 The function of this gene is unknown. [provided by RefSeq] 17374514,15345747,15302935,15282305,14702039,12477932,10718198,17643375,20379614 26015 NM_015540,AC016134,CH471125,AB037824,AK022794,AK290224,AK308884,AL117479,AL157487,BC000246,CR592322,CR609844,CR610510 NP_056355,EAW92502,EAW92503,EAW92504,EAW92505,BAA92641,BAB14247,BAF82913,CAB55952,CAB75675,AAH00246,Q9BWH6,ACE87594,ACE86907 Hs.371045 DKFZp727M111|FLJ12732|KIAA1403|MGC858 RNA polymerase II-associated protein 1 protein-coding 1602679 RPAP2 RNA polymerase II associated protein 2 17643375,16710414,15489334,14702039,12477932,9373149,8125298,19615732 79871 NM_024813,AL451010,CH471097,AI612918,AK023212,AK225054,BC031070,BC039014,CR613797 NP_079089,CAH70763,EAW73095,EAW73096,BAB14465,AAH31070,AAH39014,Q8IXW5 Hs.444421 C1orf82|FLJ13150 RNA polymerase II-associated protein 2|putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 protein-coding 1603005 RPAP3 RNA polymerase II associated protein 3 This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq] 19450687,20864038,19180575,18538670,17643375,16344560,15761153,12477932,20098747 79657 NM_024604,NM_001146075,NM_001146076,AC004241,CH471111,AK025561,AK299465,BC003680,BC056415,CA449693,DA096405,N39593 NP_078880,NP_001139547,NP_001139548,EAW57937,EAW57938,BAB15170,BAG61431,AAH56415,Q9H6T3 Hs.437855 FLJ21908 RNA polymerase II-associated protein 3 protein-coding 1320609 RPE ribulose-5-phosphate-3-epimerase 1641814,1599574,1580863 15231747,2581946,16189514,15901843,15489334,14702039,12477932,11124703,7396409,3366467,3236368 1641814,1599574 6120 NM_006916,NM_199229,AC007038,CH471063,AJ224326,AK056028,AK093658,AK096199,AK291035,AK303184,AK308741,AL833120,AY947714,BC005148,BC016764,BC063135,BC072401,CR621657,CR625804 ACE87356,ACE86672,NP_008847,NP_954699,AAX93087,EAW70472,EAW70473,EAW70474,CAA11895,BAB71076,BAC04212,BAG53229,BAF83724,BAG64278,AAY51626,AAH05148,AAH16764,AAH72401,Q4G1Y9,Q53TV9,Q96AT9 Hs.282260 MGC2636|RPE2-1 OTTHUMP00000206412|OTTHUMP00000206413|OTTHUMP00000206435|OTTHUMP00000206438|OTTHUMP00000206440|OTTHUMP00000206441|OTTHUMP00000206444|ribulose-phosphate 3-epimerase protein-coding 732416 RPE65 retinal pigment epithelium-specific protein 65kDa This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq] 1580863,737730 9326941,19049981,18774912,18766986,18722466,18599565,18539930,18484312,18216020,17848510,17724218,17651254,17197551,16754667,16518657,16272259,16198348,15837919,15557452,15489334,15009723,14962443,12960219,12477932,12357075,11786058,11727200,11462243,10766140,10386590,9801879,9501877,9501220,9328280,9326927,8474143,8340400,8034329,7633413,20356843,20399883,20510285,1331074,20591486,19117922,19431183,19753312,19806502,19920137,19959640,20043869,20801516 737730 6121 NM_000329,NG_008472,AF039868,AL139413,CH471059,DQ374435,U20510,AK289925,BC075035,BC075036,U18991 NP_000320,AAC39660,CAI18957,EAX06478,ABD37636,AAC14586,BAF82614,AAH75035,AAH75036,AAA99012,Q16518,Q2EKB8 Hs.2133 LCA2|RP20|mRPE65|rd12|sRPE65 RBP-binding membrane protein|all-trans-retinyl-palmitate hydrolase|p63|retinal pigment epithelium, 65 kda|retinal pigment epithelium-specific 65 kDa protein|retinitis pigmentosa 20 (autosomal recessive)|retinoid isomerohydrolase|retinol isomerase protein-coding 1352855 RPGR retinitis pigmentosa GTPase regulator This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq] 1599602,1599600,1599605,1580863 20591486,20806050,15790807,15772089,15723066,15489334,15364249,15342556,14627685,14566651,14564670,14516808,12920075,12766038,12657579,12477932,12160730,12140192,11992260,11875055,11857109,11754050,11702207,11180598,11104772,10980543,10970770,10958648,10958647,10937588,10932196,10737996,10725384,10482958,10480356,10401007,10094550,9855162,9677393,9418727,9399904,9373149,9326322,8889548,8817343,8673101,8125298,7611300,2300556,19218993,19429592,19815619,19834030,20021257,20090203,20631154,9990021,18332319,18188948,18029348,17923551,17898302,17893654,17724181,17480003,17405150,17325176,17249551,17195164,17093403,16969763,16936086,16935610,16917484,16387007,16273303,16086276,16052169,16043481,15914600,20574030,20801516 1599602,1599600,1599605 6103 NM_000328,NM_001034853,NG_009553,AF286471,AF286472,AJ318463,AL606748,CH471141,AJ238395,AK223491,AK291832,AY927527,BC031624,BK005711,BP233620,BX644678,CA313540,U57629,X97668 NP_000319,NP_001030025,AAG00550,AAG00551,CAC86116,CAI95407,EAW59441,EAW59442,EAW59443,EAW59444,CAB54002,BAD97211,BAF84521,AAH31624,DAA05713,AAC50481,CAA66258,Q3KN84,Q53EZ8,Q92834,Q9HD28 Hs.61438 COD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15 OTTHUMP00000215634|OTTHUMP00000215636|X-linked retinitis pigmentosa GTPase regulator|retinitis pigmentosa 15|retinitis pigmentosa 3 GTPase regulator protein-coding 1321922 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq] 1580863,1599580,1599581 11528500,11283794,11104772,10958648,10958647,17082780,20801516,17558407,17306875,16339905,16272259,15914599,15800011,15772089,15489334,12920076,12477932,12140192,20090203 1599580,1599581 57096 NM_020366,NG_008933,AJ417048,AL135744,CH471078,AF227257,AF260257,AF265666,AF265667,AJ417067,AK301780,AW593388,AY914561,BC039089,BX571740 NP_065099,CAD01136,EAW66388,EAW66389,EAW66390,EAW66391,AAG10246,AAF91371,AAG10000,AAG10001,CAD01135,BAG63237,AAX11416,AAH39089,CAE11866,Q5D221,Q96KN7,AAI48361 Hs.126035 CORD13|DKFZp686P0897|LCA6|RGI1|RGRIP|RPGRIP|RPGRIP1d RPGR-interacting protein 1|X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 protein-coding 1603695 RPGRIP1L RPGRIP1-like The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17558409,18565097,18426861,18281315,18256137,17960139,17558407,16344560,14702039,12477932,12107413,10231032,8889548,21068128,20519441,19430481,19913121,20628086,19066617,19410446,19464661,19574260,19844207 23322 NM_015272,NG_008991,AC007497,AC007909,AC084795,CH471092,AB023222,AK026552,AK093307,AK096333,AK304790,AK307929,AK308390,BC017977,BC136433,BM683568,BQ576116,CD674885,CR749645,NM_001127897,DC423209,EF565106,DA156084 NP_001121369,NP_056087,EAW82810,BAA76849,BAG65540,AAH17977,AAI36434,CAH18439,Q68CZ1 Hs.298382 CORS3|DKFZp686C0668|FTM|JBTS7|KIAA1005|MKS5|NPHP8 RPGR-interacting protein 1-like protein|RPGRIP1-like protein|fantom homolog|nephrocystin 8|protein fantom protein-coding 1347244 RPH3A rabphilin 3A homolog (mouse) Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM] 1580863 10025402,9244430,8901523,8889548,8636125,8060298,7999065,7822236,7802677,7707875,12477932,10231032,11377421,18029348,17981610,17877635,17149709,16344560,15489334,15207266,12937130,12871946,12578829 22895 NM_014954,NM_001143854,AC004465,AC004551,CH471054,AB023202,AK295696,AK296296,AK316112,BC002605,BC009843,BC017259,DA332963,BU738474,BX647281,CR613722 NP_055769,NP_001137326,EAW98014,EAW98015,EAW98016,EAW98017,EAW98018,BAA76829,BAH12159,BAH12307,BAH14483,AAH02605,AAH09843,AAH17259,Q6PJY8,Q6PKD5,Q9Y2J0 Hs.21239 KIAA0985 exophilin-1|rabphilin-3A protein-coding 1347963 RPH3AL rabphilin 3A-like (without C2 domains) 1580863 9367993,17981610,15489334,15159548,15003533,14702039,12621583,12578829,12477932,12446671,12375017,11134008,10707984,10395805,14593078,15342556,16344560,19212825,20379614 9501 AC214012,NM_006987,AC108004,AC129507,CH471108,AF129812,AK000469,AK291950,BC005153,BC093776,BC113413,BC143311,BF507559,BP275333,BU197069,BU568991,DA378956,NG_023031,NM_001190411,NM_001190412,NM_001190413 NP_008918,EAW90669,EAW90670,EAW90671,EAW90672,AAD45582,BAA91186,BAF84639,AAH05153,AAH93776,AAI13414,Q9UNE2,NP_001177340,NP_001177341,NP_001177342,ADR82928 Hs.651925 NOC2 no C2 domains protein|rab effector Noc2 protein-coding 1322805 RPIA ribose 5-phosphate isomerase A 1580863,1641814,1599574 19913121,20628086,14988808,7758956,15489334,12477932,7396409,2843500,16189514,18987987,19015949,20379614 1641814,1599574 22934 NM_144563,AC062029,AC096579,CH471215,AY050633,BC015529,BF063086,CB989690,CR591516,CR592299,CR597054,CR599007,CR613216,CR620468,CR621693,CR624462,L35035,NG_016710 NP_653164,AAY14778,AAY24200,EAW77066,EAW77067,AAK95569,AAH15529,P49247,Q53R32,Q53SB2 Hs.469264 RPI phosphoriboisomerase|ribose 5-phosphate epimerase|ribose-5-phosphate isomerase protein-coding 2802482 RPIAP1 ribose 5-phosphate isomerase A pseudogene 1 11237011,15496913,16177791 619449 AC090354,NG_023037 pseudo 1350175 RPL10 ribosomal protein L10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L10E family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene has been referred to as 'laminin receptor homolog' because a chimeric transcript consisting of sequence from this gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes a laminin receptor. Transcript variants utilizing alternative polyA signals exist. The variant with the longest 3' UTR overlaps the deoxyribonuclease I-like 1 gene on the opposite strand. This gene is co-transcribed with the small nucleolar RNA gene U70, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 19913121,20628086,9204867,9016777,8780716,8733135,8722009,8681137,8668549,8125298,8076819,7821789,1658743,1534224,1339145,1330878,1303197,16169070,9373149,9443083,15189156,18029348,14567916,11256614,19166581,18258260,18007048,17566674,16940977,16381901,16331298,15772651,15635413,15489336,15489334,12962325,12477932,12138090,11076863,9582194 6134 AK130582,CR598560,NR_026898,AB007170,BX936346,BX936347,CH471172,L44140,M81806,S64168,S64169,U37218,AA187603,AF218023,AF486812,AK026568,AK027197,NM_006013,CR603980,CR609074,CR610011,CR612141,CR613467,CR614058,CR614538,CR617177,CR621751,CR622051,CR623994,D17268,D28410,DQ369703,DQ369704,DQ369705,DQ369706,CR602212,DQ369707,DQ369708,DQ369709,AK223309,AK307511,BC003358,BC018570,BC021806,BC026276,BC071918,BC095425,BF589060,BF667333,BX647954,CR456797,CR542069,CR593302,CR596152,CR596460,DQ369710,DQ369711,DQ369712,DQ369713,DQ369714,DQ369715,DQ369716,F30590,M64241,M73791,S35960,NG_012890 NP_006004,BAA28595,CAI43230,CAI43231,CAM45853,CAO03567,CAI43214,CAI43215,EAW72736,EAW72737,EAW72738,EAW72739,EAW72740,EAW72741,AAA92646,AAA36021,AAB27665,AAD14832,AAG17265,AAL88713,BAB15688,BAA05776,ABC88559,ABC88560,ABC88561,ABC88562,ABC88563,ABC88564,ABC88565,BAD97029,AAH03358,AAH26276,AAH71918,CAG33078,CAG46866,ABC88566,ABC88567,ABC88568,ABC88569,ABC88570,ABC88571,ABC88572,AAA63253,AAA36378,AAB22173,P27635,Q5HY50,Q9GZW2,CAL38215 Hs.534404,Hs.657751,Hs.401929 DKFZp686J1851|DXS648|DXS648E|FLJ23544|FLJ27072|NOV|QM 60S ribosomal protein L10|OTTHUMP00000031945|OTTHUMP00000063212|OTTHUMP00000063213|OTTHUMP00000183506|OTTHUMP00000196447|Wilms tumor-related protein|laminin receptor homolog|protein QM|tumor suppressor QM protein-coding 732410 RPL10A ribosomal protein L10a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 20877624,16541025,19710015,7609734,15189156,14567916,15635413,15489334,15342556,14574404,12962325,12694581,12477932,11790298,9647638,9582194,8722009,8607874,8012384 4736 HC250967,HC311156,NM_007104,AL022721,CH471081,Z54966,Z62020,AB082926,AF086557,AK313181,BC006791,BC011366,BC013864,BC070216,BC116456,BP318268,BT020040,BT020041,CR593085,CR597757,CR598556,CR599594,CR605100,CR610132,CR622578,CR623823,U12404 CBJ05781,CBJ21233,NP_009035,CAB38627,EAX03831,EAX03832,EAX03833,EAX03834,BAC16802,BAG35998,AAH06791,AAH11366,AAH70216,AAI16457,AAV38843,AAV38844,AAA86463,P62906,Q1JQ76,ABM82056,ABM85235 Hs.546269,Hs.727548 Csa-19|NEDD6 60S ribosomal protein L10a|NEDD-6|neural precursor cell expressed developmentally down-regulated protein 6 protein-coding 1346580 RPL10AP1 ribosomal protein L10a pseudogene 1 19123937 319135 NG_002513,AL133367 RPL10A_6_1413 pseudo 2305700 RPL10AP10 ribosomal protein L10a pseudogene 10 19123937,19240791 391836 NG_010824,AC113340 RPL10A_4_618 pseudo 2305558 RPL10AP11 ribosomal protein L10a pseudogene 11 19123937 392206 NG_010051,AC025062 RPL10A_4_880 pseudo 2305553 RPL10AP12 ribosomal protein L10a pseudogene 12 19123937 401863 NG_009471,AC018695 RPL10A_7_1502 pseudo 2304471 RPL10AP13 ribosomal protein L10a pseudogene 13 19123937 100271602 NG_011250,AC013290 RPL10A_8_1594 pseudo 1353200 RPL10AP2 ribosomal protein L10a pseudogene 2 19123937 253986 NG_005655,AC120036 RPL10A_5_900 pseudo 2303338 RPL10AP3 ribosomal protein L10a pseudogene 3 19123937 137107 NG_009498,AC090993 HsT23218|RPL10A_5_891 pseudo 2305892 RPL10AP4 ribosomal protein L10a pseudogene 4 19123937 343301 NG_009989,AL357632 RPL10A_1_67 pseudo 2305801 RPL10AP5 ribosomal protein L10a pseudogene 5 19123937 645998 NG_009789,AL360271 FLJ40773|RPL10A_2_189 pseudo 2305568 RPL10AP6 ribosomal protein L10a pseudogene 6 19123937 100128936 NG_010877,AC096919 RPL10A_1_376 pseudo 2305674 RPL10AP7 ribosomal protein L10a pseudogene 7 19123937 100128646 NG_010699,AC114744 RPL10A_2_460 pseudo 2305588 RPL10AP8 ribosomal protein L10a pseudogene 8 19123937 644154 NG_010309,AC093278 RPL10A_3_573 pseudo 2304853 RPL10AP9 ribosomal protein L10a pseudogene 9 19123937 728979 NG_010772,AC091429 RPL10A_3_593 pseudo 1314230 RPL10L ribosomal protein L10-like This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless. [provided by RefSeq] 1580863 12490704,11256614,19123937,16381901,15489336,15489334,12477932,11076863,18029348 140801 NM_080746,AB063605,AL591768,CH471078,AB063608,AK130863,BC014310,BC066312,HC007270 NP_542784,BAC19833,EAW65775,BAC19835,AAH14310,AAH66312,Q96L21,CAL37812,CBH19440 Hs.308332 FLJ27353|RPL10_5_1358 60S ribosomal protein L10-like|ribosomal protein L10-like protein protein-coding 1345803 RPL10P1 ribosomal protein L10 pseudogene 1 19123937,10830953 54030 NG_000911,AP001605,AP001699 RPL10P|RPL10_7_1723 pseudo 2304619 RPL10P10 ribosomal protein L10 pseudogene 10 19123937 100129930 NG_010721,AL136306 RPL10_3_705 pseudo 2305901 RPL10P11 ribosomal protein L10 pseudogene 11 19123937 100128030 NG_010158,AC004159,CH236949 RPL10_4_817 pseudo 2305525 RPL10P16 ribosomal protein L10 pseudogene 16 19123937 284393 NG_011204,AC010422 RPL10_6_1628 pseudo 1342477 RPL10P2 ribosomal protein L10 pseudogene 2 19123937 442171 NG_009499,AL121934 RPL10_2_670|RPL10p|bA209A2.1 pseudo 2303341 RPL10P3 ribosomal protein L10 pseudogene 3 619445 NG_009502,AL355608 bA567J2.2 pseudo 2304863 RPL10P5 ribosomal protein L10 pseudogene 5 19123937 644911 NG_010252,AC010095 RPL10_1_257 pseudo 2305763 RPL10P7 ribosomal protein L10 pseudogene 7 19123937 442086 NG_011185,AC073352 RPL10_2_395 pseudo 2305739 RPL10P9 ribosomal protein L10 pseudogene 9 19123937 389342 NG_011151,AC008590 RPL10_1_637 pseudo 1318594 RPL11 ribosomal protein L11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternative splice variants encoding different isoforms may exist, but they have not been fully characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 20554519,10353821,10343117,9582194,8722009,7821789,18426907,12842086,17110929,17373842,19713960,19773262,20056613,20194507,20378560,15195100,7748210,18697920,15189156,14567916,19287375,19191325,19061985,18560357,18389627,17599065,17116689,16803902,15489334,15308643,15152193,14612427,12962325,12815950,12477932,11790298 6135 NM_000975,NG_011741,AB007171,AF101385,AL451000,CH471134,AF432212,AK311816,AY871274,BC018970,CR597577,CR597812,CR601780,CR625076,CR626653,D28357,L05092,X79234,BF240826,BU954396,CA335141,NM_001199802 NP_000966,BAA25831,AAD20460,CAH71472,CAH71473,CAH71474,EAW95067,EAW95068,AAL99919,BAG34759,AAX11430,AAH18970,BAA05723,AAC15856,CAA55816,P62913,Q08ES8,Q5VVC8,Q5VVC9,Q5VVD0,ABM87711,ABW03860,NP_001186731 Hs.719951 DBA7|GIG34 60S ribosomal protein L11|CLL-associated antigen KW-12|OTTHUMP00000003145|cell growth-inhibiting protein 34 protein-coding 2305773 RPL11P1 ribosomal protein L11 pseudogene 1 19123937 100133170 NG_010269,AC007386 RPL11_1_236 pseudo 2304992 RPL11P2 ribosomal protein L11 pseudogene 2 19123937,17903298 133629 NG_009748,AC113367 RPL11_1_612 pseudo 2304902 RPL11P3 ribosomal protein L11 pseudogene 3 19123937 100271271 NG_010870,AC063965 RPL11_2_1077 pseudo 2304901 RPL11P4 ribosomal protein L11 pseudogene 4 19123937 100271272 NG_010874,AL356128 RPL11_2_1080 pseudo 2305845 RPL11P5 ribosomal protein L11 pseudogene 5 19123937 643499 NG_009723,AC063943 RPL11_3_1291 pseudo 1314871 RPL12 ribosomal protein L12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 15189156,14567916,17081983,16964243,15635413,15592455,15489334,15164053,14702039,12477932,11809816,11790298,11101529,9582194,9013569,8722009,8441690,7821789,16169070,19834535,20583170 6136 BC105603,CR615987,CR622190,CR625201,D28443,L06505,NM_000976,AL445222,CH471090,AB209471,AK026526,AK057602,BC050644,BC059950,BC094831 AAH94831,AAI05604,BAA05809,AAA36157,P30050,Q59FI9,NP_000967,CAH72929,EAW87666,EAW87667,EAW87668,EAW87669,EAW87670,BAD92708,AAH50644,AAH59950 Hs.408054 60S ribosomal protein L12 protein-coding 1352569 RPL12P1 ribosomal protein L12 pseudogene 1 19123937 729727 NG_006554,AL021366,AL662799,BX248088,BX088650 CAA16156 CICK0721Q.1|RPL12-L|RPL12_5_682|dJ570F3.5 pseudo 1606374 RPL12P10 ribosomal protein L12 pseudogene 10 19123937 392872 NG_005576,AC005682,CH236948 RPL12_8_793 pseudo 1342774 RPL12P11 ribosomal protein L12 pseudogene 11 19123937 128467 NG_000964,AL031669 RPL12L2|RPL12_22_1703|dJ661I20.1 pseudo 1346828 RPL12P12 ribosomal protein L12 pseudogene 12 19123937 85824 NG_000945,AL132821 RPL12L3|RPL12_16_1689|dJ999L4.1 pseudo 2304358 RPL12P14 ribosomal protein L12 pseudogene 14 19123937 729500 NG_010822,AL450998 RPL12_1_13 pseudo 2305308 RPL12P15 ribosomal protein L12 pseudogene 15 19123937 100270920 NG_010384,AC018737 RPL12_1_272 pseudo 2305895 RPL12P16 ribosomal protein L12 pseudogene 16 19123937 100130447 NG_010751,AC011737 RPL12_4_315 pseudo 2305484 RPL12P17 ribosomal protein L12 pseudogene 17 19123937 344471 NG_010797,AC093698 RPL12_2_319 pseudo 2305878 RPL12P18 ribosomal protein L12 pseudogene 18 19123937 729760 NG_010841,AC010087 RPL12_3_246 pseudo 2304615 RPL12P19 ribosomal protein L12 pseudogene 19 19123937 100129982 NG_009586,AC013717 RPL12_2_212 pseudo 1352484 RPL12P2 ribosomal protein L12 pseudogene 2 19123937 646875 NG_009503,AL160264,AL356983 RPL12_6_688|dJ441G21.1 pseudo 2305305 RPL12P20 ribosomal protein L12 pseudogene 20 19123937 100270923 NG_010400,AC095043 RPL12_5_471 pseudo 2305307 RPL12P21 ribosomal protein L12 pseudogene 21 19123937 100270921 NG_010390,AC011405 RPL12_3_619 pseudo 2305306 RPL12P22 ribosomal protein L12 pseudogene 22 19123937 100270922 NG_010396,AC113423 RPL12_4_640 pseudo 2305303 RPL12P23 ribosomal protein L12 pseudogene 23 19123937 100270925 NG_010412,AL596442 RPL12_7_777 pseudo 2305304 RPL12P24 ribosomal protein L12 pseudogene 24 19123937 100270924 NG_010406,AC090802 RPL12_6_940 pseudo 2305302 RPL12P25 ribosomal protein L12 pseudogene 25 19123937 100270926 NG_010417,AL161725 RPL12_9_954 pseudo 2304726 RPL12P26 ribosomal protein L12 pseudogene 26 19123937 100271404 NG_010240,AL731557 RPL12_10_1101 pseudo 2305548 RPL12P27 ribosomal protein L12 pseudogene 27 19123937 644202 NG_010551,AL355490 RPL12_9_1087 pseudo 2304900 RPL12P28 ribosomal protein L12 pseudogene 28 19123937 100271273 NG_010880,AL596094 RPL12_7_1019 pseudo 2304899 RPL12P29 ribosomal protein L12 pseudogene 29 19123937 100271274 NG_010886,AC074321 RPL12_8_1073 pseudo 1343170 RPL12P3 ribosomal protein L12 pseudogene 3 19123937 128862 NG_000978,AL121901 RPL12_17_1694|bA49G10.7 pseudo 2304725 RPL12P30 ribosomal protein L12 pseudogene 30 19123937 100271405 NG_010243,AL353699 RPL12_11_1132 pseudo 2304724 RPL12P31 ribosomal protein L12 pseudogene 31 19123937 100271406 NG_010248,AL136146 RPL12_11_1136 pseudo 2304344 RPL12P32 ribosomal protein L12 pseudogene 32 19123937 100132795 NG_010966,AC023050 RPL12_12_1226 pseudo 2305810 RPL12P33 ribosomal protein L12 pseudogene 33 19123937 643550 NG_011149,AC078875 RPL12_13_1292 pseudo 2304723 RPL12P34 ribosomal protein L12 pseudogene 34 19123937 100271407 AL355611,NG_010251 RPL12_14_1319 pseudo 2304637 RPL12P35 ribosomal protein L12 pseudogene 35 19123937 400389 NG_009987,AC009690 RPL12_13_1452 pseudo 2304722 RPL12P36 ribosomal protein L12 pseudogene 36 19123937 100271408 NG_010255,AC012183 RPL12_17_1486 pseudo 2304737 RPL12P37 ribosomal protein L12 pseudogene 37 19123937 100129801 NG_010016,AC127496 RPL12_18_1579 pseudo 2305910 RPL12P38 ribosomal protein L12 pseudogene 38 19123937 645688 NG_010298,AC037475,AK090983 Hs.631738 RPL12_14_1564 pseudo 2304721 RPL12P39 ribosomal protein L12 pseudogene 39 19123937 100271410 NG_010266,AC021607 RPL12_20_1611 pseudo 1351204 RPL12P4 ribosomal protein L12 pseudogene 4 19123937 116149 NG_000962,AL121593 RPL12_23_1714|dJ800C24.1 pseudo 2305469 RPL12P40 ribosomal protein L12 pseudogene 40 19123937 646898 NG_009756,AC009899 RPL12_19_1596 pseudo 2305775 RPL12P41 ribosomal protein L12 pseudogene 41 19123937 100133139 NG_010084,AC006262 RPL12_21_1660 pseudo 2305335 RPL12P42 ribosomal protein L12 pseudogene 42 19123937 100129394 NG_010590,AC011446 RPL12_15_1630 pseudo 2304766 RPL12P43 ribosomal protein L12 pseudogene 43 19123937 100271387 AC003012,NG_010137 RPL12_24_1805 pseudo 1353924 RPL12P5 ribosomal protein L12 pseudogene 5 19123937 319142 NG_002518,AL513133 RPL12_15_1346 pseudo 1602257 RPL12P6 ribosomal protein L12 pseudogene 6 19123937 440176 NG_009696,AL355885 RPL12_12_1352 pseudo 1344449 RPL12P7 ribosomal protein L12 pseudogene 7 19123937 326275 NG_002535,AL121820 RPL12_16_1383 pseudo 1347239 RPL12P8 ribosomal protein L12 pseudogene 8 19123937 645161 NG_006101,AL133551 RPL12_10_1052|bA57G10.3 pseudo 2303449 RPL12P9 ribosomal protein L12 pseudogene 9 19123937 654376 NG_009547,AF129075 RPL12_18_1725 pseudo 732066 RPL13 ribosomal protein L13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Transcript variants derived from alternative splicing and/or alternative polyadenylation exist; these variants encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 9582194,17474147,15189156,14567916,19034380,16786168,15635413,15489334,14702039,12477932,11997338,11790298,9114010,8722009,7821789,1301162,11101529 6137 CR591773,CR594319,CR594848,CR596413,CR596850,CR597153,CR597865,CR598449,CR600363,CR600405,CR602128,CR603377,CR604073,CR605699,CR606878,CR606915,CR610213,CR611560,CR612063,CR615258,CR615603,CR617344,CR619298,CR622575,CR623155,CR624500,D28432,X64707,NM_033251,AB007172,AC092123,CH471184,AB062392,AK025405,AK026501,AK093246,AK127579,AK130963,AK130964,AK290893,AK294655,AK297198,AK308545,BC000851,BC004954,BC006179,BC007345,BC007563,BC007805,BC010994,BC013078,BC014167,BC020804,BC027463,BC063378,BC066320,BC093063,BC106058,CR591315,NM_000977 BAA05798,CAA45963,O60250,P26373,Q6NZ55,ABM82385,ABM85562,NP_000968,NP_150254,BAA25832,EAW66724,EAW66725,BAB93479,BAG54527,BAF83582,BAG57828,BAG59685,AAH04954,AAH07345,AAH07563,AAH07805,AAH10994,AAH13078,AAH14167,AAH20804,AAH27463,AAH63378,AAH66320,AAH93063,AAI06059 Hs.410817 BBC1|D16S444E|FLJ27453|FLJ27454|MGC117342|MGC71373 60S ribosomal protein L13|OK/SW-cl.46|breast basic conserved protein 1 protein-coding 1351312 RPL13A ribosomal protein L13a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative polyA signals have been observed. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in its second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 10580157,15189156,12588972,14567916,17921318,15635413,15489334,14702039,12962325,12477932,11790298,9582194,9373149,8764399,8722009,8125298,1282492,16169070,20716364,19913121,20628086,18809582,17207965,20139978 23521 BC000514,BC000847,BC001675,BC001836,BC004900,BC013230,BC032107,BC062537,BC065236,BC070223,BC071929,BC105605,BG536330,CR591301,CR591518,CR592554,CR595200,CR596601,CR596607,CR599383,CR600846,CR601809,CR606179,CR607352,CR607407,CR607799,CR607854,CR608676,CR612270,CR613016,CR613935,CR615101,CR616905,CR618182,CR618336,CR618372,CR619845,CR620187,CR622131,CR622347,CR622697,CR622930,CR623949,CR624659,CR625138,X56932,NM_012423,AB028893,AC010619,CH471177,AB082924,AK056837,AK130605,AK222747,AK291120,AK297859,CR603453 AAH00514,AAH01675,AAH01836,AAH04900,AAH62537,AAH65236,AAH70223,AAH71929,AAI05606,CAA40254,P40429,Q0VGL3,Q53H34,Q8J015,Q9BSQ6,ACE87142,ACE86461,Q5QTS3,NP_036555,BAA88214,EAW52495,EAW52496,BAC16800,BAD96467,BAF83809,BAG60190,ADQ32192 Hs.523185 TSTA1 23 kD highly basic protein|23 kDa highly basic protein|60S ribosomal protein L13a|tissue specific transplantation antigen 1 protein-coding 1353873 RPL13AP ribosomal protein L13a pseudogene 19123937 387043 NG_011172,AL645936,AL662826,BX000688,BX927223,CR759766,CR759870,CR788300 RPL13A_5_675|dJ271M21.3 pseudo 2305864 RPL13AP10 ribosomal protein L13a pseudogene 10 19123937 100132906 NG_010229,AL591742 RPL13A_2_89 pseudo 2304898 RPL13AP11 ribosomal protein L13a pseudogene 11 19123937 100271276 AL391822,NG_010895 RPL13A_1_152 pseudo 2304897 RPL13AP12 ribosomal protein L13a pseudogene 12 19123937 100271277 NG_010898,AC073410 RPL13A_3_312 pseudo 2305229 RPL13AP13 ribosomal protein L13a pseudogene 13 19123937 402214 NG_010205,AC026477 RPL13A_4_562 pseudo 2304896 RPL13AP14 ribosomal protein L13a pseudogene 14 19123937 100271278 NG_010902,AC020899 RPL13A_3_590 pseudo 2304895 RPL13AP15 ribosomal protein L13a pseudogene 15 19123937 100271279 NG_010909,AL022722 RPL13A_4_746 pseudo 2305102 RPL13AP16 ribosomal protein L13a pseudogene 16 19123937 100129553 NG_010071,AC005099,CH236947 RPL13A_7_832 pseudo 1602623 RPL13AP17 ribosomal protein L13a pseudogene 17 19123937,12477932,15479637,20966902 399670 NR_003680,AC006043,CH236949,CH471091,BC027852 EAW77026 Hs.568045 RPL13A_6_816 pseudo 2305119 RPL13AP18 ribosomal protein L13a pseudogene 18 19123937 402342 NG_010866,AC104212 RPL13A_5_919 pseudo 2305863 RPL13AP19 ribosomal protein L13a pseudogene 19 19123937 100132924 AC068898,NG_010319 RPL13A_6_1040 pseudo 1345955 RPL13AP2 ribosomal protein L13a pseudogene 2 19123937 326278 NG_002538,AL157792 RPL13A_12_1359 pseudo 2305232 RPL13AP20 ribosomal protein L13a pseudogene 20 19123937,11181995 387841 NR_003932,AC007688,CH471094,AI609875 EAW96286,EAW96287 RPL13A_9_1211 pseudo 2304847 RPL13AP21 ribosomal protein L13a pseudogene 21 19123937 100129799 NG_010004,AC084878 RPL13A_10_1231 pseudo 2305920 RPL13AP22 ribosomal protein L13a pseudogene 22 19123937 441632 NG_010172,AC024940 RPL13A_9_1223 pseudo 2305919 RPL13AP23 ribosomal protein L13a pseudogene 23 19123937 441641 NG_010224,AC025165 RPL13A_10_1240 pseudo 2304470 RPL13AP24 ribosomal protein L13a pseudogene 24 19123937 100271603 NG_011259,AC125807 RPL13A_8_1193 pseudo 2305122 RPL13AP25 ribosomal protein L13a pseudogene 25 19123937 100287887 AL356120,NG_012730 CAH73036 FWP004|RPL13A_11_1314|S863-4 pseudo 2304493 RPL13AP26 ribosomal protein L13a pseudogene 26 19123937 729212 NG_010641,AC003072 RPL13A_13_1745 pseudo 2303485 RPL13AP3 ribosomal protein L13a pseudogene 3 19123937,12477932 645683 NR_004844,AL355773,BC067891 Q6NVV1 Hs.663461 MGC87657|RPL13A_11_1370 pseudo 1343517 RPL13AP5 ribosomal protein L13a pseudogene 5 19123937 728658 NR_026712,AL358235,CD173238 Hs.727500 RPL13A_8_1086|bA196N24.2 pseudo 1348012 RPL13AP6 ribosomal protein L13a pseudogene 6 19123937,10737800 644511 NR_026715,AL158163,BE830053 Hs.632083 RPL13A_7_1096|bA348N5.5 pseudo 1350057 RPL13AP7 ribosomal protein L13a pseudogene 7 19123937 284821 NG_009777,AP001340 RPL13A_12_1722 pseudo 2305681 RPL13AP8 ribosomal protein L13a pseudogene 8 19123937 727831 NG_009083,AC098935 RPL13A_2_157 pseudo 2305055 RPL13AP9 ribosomal protein L13a pseudogene 9 19123937 100271137 NG_010176,AL138847 RPL13A_1_58 pseudo 1344645 RPL13P ribosomal protein L13 pseudogene 19123937 387044 NG_009510,AL662890,AL669978,BX119924,CR753651,CR936879 BBC1p|RPL13_3_673|dJ111M5.1 pseudo 2305776 RPL13P10 ribosomal protein L13 pseudogene 10 19123937 100133108 NG_011268,AC008620 RPL13_2_647 pseudo 2304384 RPL13P11 ribosomal protein L13 pseudogene 11 19123937 100130225 NG_010921,AC022730 RPL13_3_914 pseudo 2304640 RPL13P12 ribosomal protein L13 pseudogene 12 19123937 388344 NG_007541,AC073621 RPL13_4_1521 pseudo 2304848 RPL13P13 ribosomal protein L13 pseudogene 13 19123937 100129796 NG_009982,AC011506 RPL13_5_1672 pseudo 2304348 RPL13P14 ribosomal protein L13 pseudogene 14 19123937 100130374 NG_010376,AL354766 RPL13_6_1708 pseudo 1351579 RPL13P2 ribosomal protein L13 pseudogene 2 19573080,19773279,19123937 128500 NG_000966,AL035662 RPL13P3|RPL13_7_1707|dJ599F21.2 pseudo 2303446 RPL13P4 ribosomal protein L13 pseudogene 4 19123937 654383 NG_009554,AC105137 HsT16723|RPL13_6_1454 pseudo 2301125 RPL13P5 ribosomal protein L13 pseudogene 5 19123937,12477932,9074930 283345 NR_002803,U47924,AY672103,U72513 Hs.720698 RPL13-2|RPL13L|RPL13_4_1199|RRPL13L pseudo 1352859 RPL13P6 ribosomal protein L13 pseudogene 6 19123937 100129176 NG_010805,AL133455 RPL13AP4|RPL13_5_1409 pseudo 2304367 RPL13P7 ribosomal protein L13 pseudogene 7 19123937 391140 NG_011178,AL359265 RPL13_1_131 pseudo 2305300 RPL13P8 ribosomal protein L13 pseudogene 8 19123937 100270928 NG_010428,AC069499 RPL13_2_391 pseudo 2305301 RPL13P9 ribosomal protein L13 pseudogene 9 19123937 100270927 NG_010421,AC094085 RPL13_1_589 pseudo 733020 RPL14 ribosomal protein L14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 9480843,11369516,18697920,15189156,18029348,14567916,17081983,15635413,15489334,12962325,12477932,11875025,11790298,11401437,9417904,9373149,8722009,8549859,8325628,8244780,8125298 9045 NM_003973,NM_001034996,AB046407,AB061822,AC104186,CH471055,AK222750,AK223111,AK290674,AK292045,BC000606,BC005134,BC009294,BC016379,BC019651,BC022805,BC029036,BC071913,BG776586,CD298951,CR596236,CR596307,CR598104,CR600213,CR605270,CR605445,CR607821,CR609169,CR618270,CR621853,CR623795,D87735,DQ118667,L10376,U16738,U92982 AAH09294,NP_003964,NP_001030168,BAB21253,BAB79460,EAW64606,EAW64607,EAW64608,EAW64609,BAD96470,BAD96831,BAF83363,BAF84734,AAH00606,AAH05134,AAH16379,AAH19651,AAH22805,AAH29036,AAH71913,BAA13443,AAZ38460,AAC16021,P50914,Q6IPH7,ABM82847,ABM86031 Hs.446522 CAG-ISL-7|CTG-B33|L14|MGC88594|RL14|hRL14 60S ribosomal protein L14|OTTHUMP00000209259 protein-coding 1346661 RPL14P1 ribosomal protein L14 pseudogene 1 19123937 144581 NG_009597,AC078814 RPL14L|RPL14_1_1246|bcm1298 pseudo 2305299 RPL14P2 ribosomal protein L14 pseudogene 2 19123937 100270930 NG_010436,AC012519 RPL14_1_377 pseudo 2305499 RPL14P3 ribosomal protein L14 pseudogene 3 19123937,9847074 730747 NG_010438,AC114771 RPL14_2_522 pseudo 2304894 RPL14P4 ribosomal protein L14 pseudogene 4 19123937 100271282 NG_010923,AC126615 RPL14_2_1267 pseudo 3277915 RPL14P5 ribosomal protein L14 pseudogene 5 442442 AL672277,CH471225,NG_009084 EAW66814 pseudo 736821 RPL15 ribosomal protein L15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15E family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Although this gene has been referred to as RPL10, its official symbol is RPL15. This gene has been shown to be overexpressed in some esophageal tumors compared to normal matched tissues. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 9582194,15189156,14567916,16608517,15635413,15489334,12477932,11875025,11790298,11223259,9110174,8722009,1538749,16169070,19834535 6138 AB007173,AB061823,AC124914,CH471055,AF279903,AF283772,AK098795,AK129815,AK290694,AK292000,AK293709,AK297091,AY347528,BC014837,BC068198,BC070328,BC071672,BC081565,BT019672,CR589966,CR590737,CR591026,CR591486,CR592054,CR592112,CR592217,CR592595,CR593841,CR594593,CR594754,CR594869,CR595482,CR595491,CR595665,CR597435,CR598750,NM_002948,CR598817,CR599265,CR600211,CR601000,CR601919,CR602953,CR603506,CR603650,CR603962,CR604390,CR606381,CR607141,CR608253,CR610524,CR611105,CR611581,CR611630,CR612388,CR612565,CR612963,CR613126,CR613244,CR613287,CR613472,CR613602,CR616363,CR616635,CR616682,CR617573,CR617990,CR618040,CR618137,CR618198,CR618680,CR619911,CR621224,CR621355,CR621403,CR621733,CR622225,CR623250,CR624686,CR625846,CR626552,CR622675,CR622760,L25899 NP_002939,BAA25833,BAB79461,EAW64337,EAW64338,EAW64339,AAG44837,AAG15591,BAF83383,BAF84689,BAG57142,BAG59606,AAQ24859,AAH14837,AAH68198,AAH70328,AAH71672,AAH81565,AAV38478,AAA36583,P61313,Q5U0C0,Q642I1,Q76N55 Hs.695621,Hs.381219 EC45|FLJ26304|MGC88603|RPL10|RPLY10|RPYL10 60S ribosomal protein L15|OTTHUMP00000208333|OTTHUMP00000208401|OTTHUMP00000208402 protein-coding 1349869 RPL15P1 ribosomal protein L15 pseudogene 1 19123937 128756 NG_000975,AL160411 RPL15_9_1687|dJ726N1.3 pseudo 2304749 RPL15P11 ribosomal protein L15 pseudogene 11 19123937,12690205 402694 NG_009995,AC093107,CH236950 EAL24059 RPL15_5_851 pseudo 2305093 RPL15P12 ribosomal protein L15 pseudogene 12 19123937 100131958 NG_010613,AC022973 RPL15_6_949 pseudo 2305564 RPL15P13 ribosomal protein L15 pseudogene 13 19123937 100131338 NG_010020,AL137025 RPL15_8_1099 pseudo 2304893 RPL15P14 ribosomal protein L15 pseudogene 14 19123937 100271283 NG_010927,AL607035 RPL15_7_1062 pseudo 2305788 RPL15P15 ribosomal protein L15 pseudogene 15 19123937 100128347 NG_010477,AP000797 RPL15_4_1179 pseudo 2304355 RPL15P16 ribosomal protein L15 pseudogene 16 19123937 100127949 NG_011061,AP002381 RPL15_9_1154 pseudo 2305610 RPL15P17 ribosomal protein L15 pseudogene 17 19123937 728002 NG_011003,AC092865 RPL15_10_1204 pseudo 2305608 RPL15P18 ribosomal protein L15 pseudogene 18 19123937 728088 NG_010118,AL356575 RPL15_5_1331 pseudo 1354056 RPL15P2 ribosomal protein L15 pseudogene 2 19123937 326279 NG_002539,AL121612 RPL15_6_1404 pseudo 2305543 RPL15P20 ribosomal protein L15 pseudogene 20 19123937 646672 NG_010064,AC130651 RPL15_7_1476 pseudo 2304346 RPL15P21 ribosomal protein L15 pseudogene 21 19123937 100132722 NG_010592,AC015908 RPL15_8_1514 pseudo 2305831 RPL15P22 ribosomal protein L15 pseudogene 22 19123937 100130624 NG_010342,Z97353 RPL15_10_1742 pseudo 1346139 RPL15P3 ribosomal protein L15 pseudogene 3 19123937 653232 NG_008796,AL355137 RPL15_3_658|bA511S14.1 pseudo 1348057 RPL15P4 ribosomal protein L15 pseudogene 4 19123937 100129921 NG_009512,AL662847,AL663061,BX001040,BX927320,CR753820,CR753864,CT009531,BX682535 Em:AC006046.2|RPL15_4_680 pseudo 2304353 RPL15P5 ribosomal protein L15 pseudogene 5 19123937 100127993 NG_011291,AC069394,AC097523 RPL15_1_277 pseudo 2305298 RPL15P6 ribosomal protein L15 pseudogene 6 19123937 100270933 NG_010448,AC074276 RPL15_1_425 pseudo 2305345 RPL15P7 ribosomal protein L15 pseudogene 7 19123937 728576 NG_009957,AC092597 RPL15_2_475 pseudo 2305297 RPL15P8 ribosomal protein L15 pseudogene 8 19123937 100270934 NG_010451,AC099340 RPL15_2_518 pseudo 2305296 RPL15P9 ribosomal protein L15 pseudogene 9 19123937,9847074 100270935 NG_010454,AC005587 RPL15P10|RPL15_3_755 pseudo 1347180 RPL17 ribosomal protein L17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. Two alternative splice variants have been observed, each encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 15189156,14567916,15635413,15489334,12962325,12761501,12477932,11875025,11790298,9582194,8722009,2402465,8889549,16169070 6139 NM_000985,NM_001035006,AB007174,AB061824,AC100778,CH471096,AK304659,AK311828,BC000502,BC017831,BC066323,BC066324,BC106031,BG497914,BI086293,CR592159,CR599286,CR612392,CR623627,X53777,AA148652,AK311720,BF670086,BG758380,BG827384,BQ877039,BQ882430,CB178432,CD386294,CD387752,NM_001199340,NM_001199341,NM_001199342,NM_001199343,NM_001199344,NM_001199345,CH236953 NP_000976,NP_001030178,BAA25834,BAB79462,EAW62940,EAW62941,EAW62942,EAW62943,EAW62944,EAW62945,BAG65434,BAG34770,AAH00502,AAH17831,AAH66323,AAH66324,AAI06032,CAA37793,P18621,ABM83128,ABM86324,NP_001186269,NP_001186270,NP_001186271,NP_001186272,NP_001186273,NP_001186274 Hs.293653,Hs.374588,Hs.485081 FLJ18762|FLJ92089|MGC117162|PD-1|RPL23|rpL23 60S ribosomal protein L17|60S ribosomal protein L23|PD-1|gene encoding putative NFkB activating protein protein-coding 1351421 RPL17L1 ribosomal protein L17-like 1, G1-phase expressed 8123253 6140 1342969 RPL17P1 ribosomal protein L17 pseudogene 1 19123937 140748 NG_000991,AL049648 RPL17_18_1690|dJ1178H5.1 pseudo 2305295 RPL17P10 ribosomal protein L17 pseudogene 10 19123937 100270936 NG_010458,AC007272 RPL17_2_309 pseudo 2305294 RPL17P11 ribosomal protein L17 pseudogene 11 19123937 100270937 NG_002601,AC114812,NG_023673 RPL17_3_336 pseudo 2305293 RPL17P12 ribosomal protein L17 pseudogene 12 19123937 100270938 NG_010467,AC009476 RPL17_6_281 pseudo 2305292 RPL17P13 ribosomal protein L17 pseudogene 13 19123937 100270939 NG_010475,AC007394 RPL17_7_285 pseudo 2305290 RPL17P14 ribosomal protein L17 pseudogene 14 19123937 100270941 NG_010484,AC007677 RPL17_8_331 pseudo 2305871 RPL17P15 ribosomal protein L17 pseudogene 15 19123937 100128117 NG_010608,AC069154 RPL17_5_269 pseudo 2304409 RPL17P16 ribosomal protein L17 pseudogene 16 19123937 729349 NG_009988,AC124916 RPL17_4_369 pseudo 2305288 RPL17P17 ribosomal protein L17 pseudogene 17 19123937 100270943 NG_010492,AC025589 RPL17_9_379 pseudo 2304971 RPL17P18 ribosomal protein L17 pseudogene 18 19123937 100129657 NG_010629,AC144530 RPL17_5_454 pseudo 2305042 RPL17P19 ribosomal protein L17 pseudogene 19 19123937 100271150 NG_010247,AC092643 RPL17_11_483 pseudo 2303484 RPL17P2 ribosomal protein L17 pseudogene 2 19123937 652974 NG_009524,AL157756 RPL17_13_1376 pseudo 2305767 RPL17P20 ribosomal protein L17 pseudogene 20 19123937 391655 NG_011190,AC022483 RPL17_10_481 pseudo 2305041 RPL17P21 ribosomal protein L17 pseudogene 21 19123937 100271151 NG_002793,AC022133 RPL17_12_561 pseudo 2305649 RPL17P22 ribosomal protein L17 pseudogene 22 19123937 727984 NG_010916,AC016638 RPL17_13_564 pseudo 2305040 RPL17P23 ribosomal protein L17 pseudogene 23 19123937 100271152 NG_010254,AL096711 RPL17_15_751 pseudo 2305039 RPL17P24 ribosomal protein L17 pseudogene 24 19123937 100271153 NG_010258,AL445220 RPL17_16_771 pseudo 2305695 RPL17P25 ribosomal protein L17 pseudogene 25 19123937 442232 NG_010621,AL359715 RPL17_6_718 pseudo 2304849 RPL17P26 ribosomal protein L17 pseudogene 26 19123937 100129784 NG_011287,AL512422 RPL17_14_707 pseudo 2305526 RPL17P27 ribosomal protein L17 pseudogene 27 19123937,12690205 202789 NG_009649,AC020983,CH236950 EAL24045 RPL17_17_857 pseudo 2305291 RPL17P28 ribosomal protein L17 pseudogene 28 19123937 100270940 NG_010479,AC018644,CH236950 RPL17_7_858 pseudo 2305038 RPL17P29 ribosomal protein L17 pseudogene 29 19123937 100271154 NG_010265,AF131215 RPL17_18_874 pseudo 1351309 RPL17P3 ribosomal protein L17 pseudogene 3 326286 NG_002540,AC007262 pseudo 2305037 RPL17P30 ribosomal protein L17 pseudogene 30 19123937 100271155 NG_010271,AC103724 RPL17_20_898 pseudo 2305036 RPL17P31 ribosomal protein L17 pseudogene 31 19123937 100271156 NG_010274,AC011037 RPL17_21_910 pseudo 2305289 RPL17P32 ribosomal protein L17 pseudogene 32 19123937 100270942 NG_010489,AC041039 RPL17_8_939 pseudo 2305361 RPL17P33 ribosomal protein L17 pseudogene 33 19123937 646909 NG_011315,AC069181 RPL17_19_888 pseudo 2305688 RPL17P34 ribosomal protein L17 pseudogene 34 19123937 643863 NG_010111,AL365364 RPL17_10_1081 pseudo 2304892 RPL17P35 ribosomal protein L17 pseudogene 35 19123937 100271284 NG_010932,AC013287 RPL17_9_1049 pseudo 2304410 RPL17P36 ribosomal protein L17 pseudogene 36 19123937 729340 NG_011307,AL157388 RPL17_11_1102 pseudo 2304720 RPL17P37 ribosomal protein L17 pseudogene 37 19123937 100271411 NG_010272,AC087892 RPL17_12_1285 pseudo 2304715 RPL17P38 ribosomal protein L17 pseudogene 38 19123937 100271417 NG_010301,AC007622 RPL17_22_1275 pseudo 2304499 RPL17P39 ribosomal protein L17 pseudogene 39 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPL17 gene, no convincing evidence of transcription exists. It is thus being annotated as a pseudogene. [provided by RefSeq] 19123937,11181995 645296 NG_010917,AC064799,CH471082 EAW77871 RPL17_14_1450|hCG2004593 pseudo 1349566 RPL17P4 ribosomal protein L17 pseudogene 4 19123937 326288 NG_002541,AL138976 RPL17_23_1411 pseudo 2304719 RPL17P40 ribosomal protein L17 pseudogene 40 19123937 100271413 NG_010279,AC136624 RPL17_15_1477 pseudo 2304381 RPL17P41 ribosomal protein L17 pseudogene 41 19123937 100132645 AC006534,NG_010200 RPL17_26_1572 pseudo 2304714 RPL17P42 ribosomal protein L17 pseudogene 42 19123937 100271418 NG_010307,AC006237 RPL17_25_1540 pseudo 2304487 RPL17P43 ribosomal protein L17 pseudogene 43 19123937 729259 NG_010892,AC004448 RPL17_24_1526 pseudo 2305100 RPL17P44 ribosomal protein L17 pseudogene 44 19123937 100129584 NG_010256,AC100843 RPL17_28_1610 pseudo 2304718 RPL17P45 ribosomal protein L17 pseudogene 45 19123937 100271414 NG_010285,AC104209 RPL17_16_1598 pseudo 2304713 RPL17P46 ribosomal protein L17 pseudogene 46 19123937 100271419 NG_010313,AC015864 RPL17_27_1601 pseudo 2304717 RPL17P47 ribosomal protein L17 pseudogene 47 19123937 100271415 NG_010292,AC022415 RPL17_17_1624 pseudo 2304716 RPL17P48 ribosomal protein L17 pseudogene 48 19123937 100271416 NG_010297,AL137077 RPL17_19_1717 pseudo 2304765 RPL17P49 ribosomal protein L17 pseudogene 49 19123937 100271388 NG_010144,AC112499 RPL17_20_1764 pseudo 2304145 RPL17P5 ribosomal protein L17 pseudogene 5 19123937 388132 NG_011404,AL049597 RPL17_2_69 pseudo 2304391 RPL17P6 ribosomal protein L17 pseudogene 6 19123937,11181995 645441 NG_010347,AC113935,CH471059 EAX06384,EAX06385 RPL17_1_64 pseudo 2304345 RPL17P7 ribosomal protein L17 pseudogene 7 This gene has characteristics of a pseudogene derived from the RPL17 gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the RPL17 gene, so this gene is being called protein-coding for now. [provided by RefSeq] 19123937,11181995 100132742 NG_010702,AC011645,BX679664,CH471122 EAW56352,EAW56353,CAH71324 RPL17L|RPL17_3_82 pseudo 2305677 RPL17P8 ribosomal protein L17 pseudogene 8 19123937 730255 NG_010750,AC093422 RPL17_4_153 pseudo 2304413 RPL17P9 ribosomal protein L17 pseudogene 9 19123937 729301 NG_011099,AL513365 RPL17_1_25 pseudo 733647 RPL18 ribosomal protein L18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 19913121,20628086,8218404,15189156,14567916,16964243,16751257,15635413,15489334,12962325,12477932,11875025,11790298,9582194,8722009,7821789,14499622 6141 NM_000979,AB061825,AC022154,CH471177,AK026558,AK293386,BC000374,BC009708,BC021743,CR590122,CR591552,CR591878,CR597869,CR598496,CR600341,CR600364,CR601070,CR602585,CR608718,CR609223,CR614681,CR622915,CR623252,CR626510,D28461,DQ403032,L11566 NP_000970,BAB79463,EAW52358,EAW52359,EAW52360,EAW52361,EAW52362,EAW52363,EAW52364,BAG56896,AAH00374,AAH09708,AAH21743,BAA05827,ABD77165,AAA16329,Q07020,Q0QEW2,ABM82377,ABM85556 Hs.515517 60S ribosomal protein L18 protein-coding 1345925 RPL18A ribosomal protein L18a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18AE family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U68 snoRNA, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 17207965,9582194,17353931,15189156,14567916,17081983,16195786,16169070,15635413,15592455,15489334,15057824,12477932,11823430,9373149,8722009,8125298,7821789,7662174,1538749 6142 AB007175,NM_000980,AC005796,AC007201,CH471106,AK222647,AK297323,AK297358,AK300809,AK311774,AY779046,BC007512,BC066319,BC071920,CR592115,CR594005,CR600519,CR600845,CR603612,CR606905,CR617184,CR619120,CR615832,CR619918,CR624588,D28393,L05093,X80822 ADQ31956,NP_000971,BAA28596,AAC62828,EAW84641,EAW84642,BAD96367,BAG59786,BAG59806,BAG62465,BAG34717,AAX47571,AAH07512,AAH66319,AAH71920,BAA05759,AAC18781,CAA56788,Q02543,Q32XH3,Q53HD3,Q76N54 Hs.337766 60S ribosomal protein L18a|ribosomal protein L18a-like protein protein-coding 1348264 RPL18AP1 ribosomal protein L18a pseudogene 1 19123937 326289 NG_002542,AL132838 RPL18A_3_1401 pseudo 2304891 RPL18AP10 ribosomal protein L18a pseudogene 10 19123937 100271285 NG_010938,AC004692,CH236951 RPL18A_4_806 pseudo 2304351 RPL18AP11 ribosomal protein L18a pseudogene 11 19123937 100127999 NG_011326,AL583805 RPL18A_5_961 pseudo 2304469 RPL18AP12 ribosomal protein L18a pseudogene 12 19123937 100271604 NG_011264,AC016482 RPL18A_7_1543 pseudo 2305723 RPL18AP13 ribosomal protein L18a pseudogene 13 19123937 646189 NG_010245,AC008481 RPL18A_8_1622 pseudo 2304712 RPL18AP14 ribosomal protein L18a pseudogene 14 19123937 100271420 NG_010318,Z70224 RPL18A_9_1800 pseudo 2305372 RPL18AP15 ribosomal protein L18a pseudogene 15 19123937 392522 NG_010399,AL096764 RPL18A_4_1802 pseudo 2304642 RPL18AP16 ribosomal protein L18a pseudogene 16 19123937,11181995,8661155 347544 NG_006952,CH471172,U52111 EAW72846 RPL18A_10_1821 pseudo 1351963 RPL18AP2 ribosomal protein L18a pseudogene 2 387494 NG_009884,AP000336 pseudo 2303441 RPL18AP3 ribosomal protein L18a pseudogene 3 19123937 390354 BI824661,NR_001593,AC089983 Hs.337766 RPL18A_6_1273|bcm182 pseudo 2305824 RPL18AP4 ribosomal protein L18a pseudogene 4 19123937,11181995 127545 NG_010303,AL355864,CH471059 EAX07488 RPL18A_2_30 pseudo 2305792 RPL18AP5 ribosomal protein L18a pseudogene 5 19123937 729955 NG_009594,AL590640 RPL18A_1_27 pseudo 2304752 RPL18AP6 ribosomal protein L18a pseudogene 6 19123937 285053 NG_010647,AC079250 RPL18A_1_215 pseudo 2305828 RPL18AP7 ribosomal protein L18a pseudogene 7 19123937 100133038 NG_010905,AP006241 RPL18A_2_364 pseudo 2305620 RPL18AP8 ribosomal protein L18a pseudogene 8 19123937 644082 NG_011252,AC117444 RPL18A_3_387 pseudo 1347701 RPL18P1 ribosomal protein L18 pseudogene 1 19123937,17903297,20125193 326291 NG_002543,AL512359 RPL18_7_1361 pseudo 2304890 RPL18P10 ribosomal protein L18 pseudogene 10 19123937 100271286 NG_010943,AL137060 RPL18_6_1311 pseudo 2304751 RPL18P11 ribosomal protein L18 pseudogene 11 19123937 390612 NG_011096,AC067863 RPL18_4_1455 pseudo 2304750 RPL18P12 ribosomal protein L18 pseudogene 12 19123937 390671 NG_010057,AC004224 RPL18_8_1468 pseudo 2305883 RPL18P13 ribosomal protein L18 pseudogene 13 19123937 441775 NG_010911,AC010528 RPL18_5_1500 pseudo 2305221 RPL18P2 ribosomal protein L18 pseudogene 2 19123937 100129421 AL513480,NG_010738 RPL18_1_137 pseudo 2305338 RPL18P3 ribosomal protein L18 pseudogene 3 19123937 100129374 NG_010491,AC106806 RPL18_2_608 pseudo 2304870 RPL18P4 ribosomal protein L18 pseudogene 4 19123937,12690205 392979 NG_009449,AC074085,CH236947 EAL24345 RPL18_1_838 pseudo 2305287 RPL18P5 ribosomal protein L18 pseudogene 5 19123937 100270944 NG_010496,AC009517,CH236950 RPL18_3_852 pseudo 2305565 RPL18P6 ribosomal protein L18 pseudogene 6 19123937 100131333 NG_009990,AC023245 RPL18_2_942 pseudo 2305286 RPL18P7 ribosomal protein L18 pseudogene 7 19123937 100270945 NG_010500,AC107890 RPL18_4_944 pseudo 2304970 RPL18P8 ribosomal protein L18 pseudogene 8 19123937 100129670 NG_010700,AC021723 RPL18_5_1138 pseudo 2304974 RPL18P9 ribosomal protein L18 pseudogene 9 19123937 100129645 NG_010566,AC007207 RPL18_3_1196 pseudo 734460 RPL19 ribosomal protein L19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 19799608,17207965,1577483,15189156,14567916,18676770,17244347,16609016,15489334,12477932,12149109,11401437,9373149,8722009,8125298,8095182,7789970,3542997,1598220 6143 BC066315,BC095445,BX537435,CR593123,CR595681,CR604774,CR607184,CR607526,CR611881,CR615329,CR623934,CR625750,S56985,X63527,AC004408,CH471152,CS185559,X82201,AK130962,AK223082,AK311858,AY157980,BC000530,BC013016,BC062709,NM_000981 ADQ31681,AAH66315,AAH95445,CAD97677,AAB25672,CAA45090,P84098,Q53G49,Q8IWR8,ABM82303,ACE87394,ACE86709,NP_000972,EAW60565,EAW60566,EAW60567,EAW60568,CAJ42740,BAD96802,BAG34799,AAN76335,AAH00530,AAH13016,AAH62709 Hs.381061 DKFZp779D216|FLJ27452|MGC71997 60S ribosomal protein L19|ribosomal protein L19, cytosolic, N-terminus truncated protein-coding 1352268 RPL19P1 ribosomal protein L19 pseudogene 1 19123937 140759 NG_001002,AL035460 RPL19_11_1678|dJ860F19.2 pseudo 2305284 RPL19P10 ribosomal protein L19 pseudogene 10 19123937 100270948 NG_010516,AC091980 RPL19_3_638 pseudo 2305283 RPL19P11 ribosomal protein L19 pseudogene 11 19123937 100270950 NG_010524,AC026421 RPL19_6_547 pseudo 2305220 RPL19P12 ribosomal protein L19 pseudogene 12 19123937 100129424 AW373666,CD709306,NR_026660,AC007683 Hs.720729 RPL19_4_829 pseudo 2305596 RPL19P13 ribosomal protein L19 pseudogene 13 19123937 392193 NG_009963,AC100809 RPL19_8_875 pseudo 2305282 RPL19P14 ribosomal protein L19 pseudogene 14 19123937 100270951 NG_010531,AP003551 RPL19_9_931 pseudo 2305116 RPL19P15 ribosomal protein L19 pseudogene 15 19123937 642306 NG_009968,AL359092 RPL19_10_1014 pseudo 2305686 RPL19P16 ribosomal protein L19 pseudogene 16 19123937 646255 NG_010575,AC024599 RPL19_5_1105 pseudo 2304889 RPL19P17 ribosomal protein L19 pseudogene 17 19123937 100271287 NG_010951,AC092824 RPL19_6_1208 pseudo 2304888 RPL19P18 ribosomal protein L19 pseudogene 18 19123937 100271288 NG_010954,AC087501 RPL19_7_1512 pseudo 2305471 RPL19P19 ribosomal protein L19 pseudogene 19 19123937 646820 NG_010859,AC010326 RPL19_8_1674 pseudo 2303447 RPL19P2 ribosomal protein L19 pseudogene 2 19123937 654382 NG_009531,AC097358 RPL19_3_373 pseudo 2305480 RPL19P20 ribosomal protein L19 pseudogene 20 19123937 392451 NG_009975,AL136137 RPL19_12_1775 pseudo 2305371 RPL19P21 ribosomal protein L19 pseudogene 21 19123937 392557 NG_010567,AF003626 RPL19_13_1819 pseudo 2305332 RPL19P3 ribosomal protein L19 pseudogene 3 19123937 100131759 NG_010913,AL161742 RPL19_1_59 pseudo 2305510 RPL19P4 ribosomal protein L19 pseudogene 4 19123937 646710 NG_010288,AC068137 RPL19_1_276 pseudo 2305584 RPL19P5 ribosomal protein L19 pseudogene 5 19123937 646532 NG_010688,AC021016 RPL19_2_325 pseudo 2305285 RPL19P6 ribosomal protein L19 pseudogene 6 19123937 100270946 NG_010507,AC133435 RPL19_2_411 pseudo 2305494 RPL19P7 ribosomal protein L19 pseudogene 7 19123937 100131527 NG_011033,AC021660 RPL19_4_388 pseudo 2305736 RPL19P8 ribosomal protein L19 pseudogene 8 19123937 391719 NG_010214,AC095041 RPL19_5_537 pseudo 2305720 RPL19P9 ribosomal protein L19 pseudogene 9 19123937 653314 NG_009970,AC136632 RPL19_7_643 pseudo 68568 RPL21 ribosomal protein L21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 7772601,15189156,14567916,17903306,15635413,15489334,12962325,12690205,12477932,11875025,11773032,11751223,11401437,11181995,9582194,8722009,7951316,7821789,17353931,16169070 6144 NM_000982,AB007176,AB061826,AL159977,CH471075,AF086172,AK130968,AK311795,BC001603,BC007505,BC019002,BC062981,BC070184,BC070185,BC070323,BC070330,BC071902,BC104478,BC104667,BX647669,CR457032,CR602527,D28406,U14967,U25789,X89401 NP_000973,BAA25835,BAB79464,CAH73745,EAX08395,EAX08396,EAX08397,EAX08398,EAX08399,EAX08400,EAX08401,BAG34738,AAH01603,AAH07505,AAH62981,AAH70184,AAH70323,AAH70330,AAH71902,AAI04668,BAA05772,AAA85655,AAA93231,CAA61582,P46778,Q6IAX2,CAG33313 Hs.381123,Hs.535873 DKFZp686C06101|FLJ27458|L21|MGC104274|MGC104275|MGC71252 60S ribosomal protein L21 protein-coding 1344772 RPL21P1 ribosomal protein L21 pseudogene 1 7940018 6145 NG_000868,AC079406,X63773 RPL21P pseudo 1353396 RPL21P10 ribosomal protein L21 pseudogene 10 19123937 319143 NG_002519,AC008044 RPL21_49_1395 pseudo 2304703 RPL21P100 ribosomal protein L21 pseudogene 100 19123937 100271430 NG_010370,AC007537 RPL21_42_1206 pseudo 2304702 RPL21P101 ribosomal protein L21 pseudogene 101 19123937 100271431 NG_010382,AC090525 RPL21_42_1230 pseudo 2304701 RPL21P102 ribosomal protein L21 pseudogene 102 19123937 100271432 NG_010386,AC087312 RPL21_43_1219 pseudo 2304700 RPL21P103 ribosomal protein L21 pseudogene 103 19123937 100271433 NG_010392,AC079034 RPL21_44_1241 pseudo 2304698 RPL21P104 ribosomal protein L21 pseudogene 104 19123937 100271435 NG_010402,AC137053 RPL21_45_1243 pseudo 2305223 RPL21P105 ribosomal protein L21 pseudogene 105 19123937 728693 NG_009699,AC090013 RPL21_43_1282 pseudo 2305915 RPL21P106 ribosomal protein L21 pseudogene 106 19123937 643264 NG_009728,AC025164 RPL21_48_1266 pseudo 2305228 RPL21P107 ribosomal protein L21 pseudogene 107 19123937 644627 NG_009801,AL157875 RPL21_46_1336 pseudo 2304699 RPL21P108 ribosomal protein L21 pseudogene 108 19123937 100271434 NG_010398,AL355390 RPL21_44_1324 pseudo 2304697 RPL21P109 ribosomal protein L21 pseudogene 109 19123937 100271437 NG_010414,AL138698 RPL21_49_1320 pseudo 1344889 RPL21P11 ribosomal protein L21 pseudogene 11 19123937 157206 NG_002488,AL161662,AL512791 RPL21_50_1399 pseudo 2304696 RPL21P110 ribosomal protein L21 pseudogene 110 19123937 100271438 NG_010419,AL356754 RPL21_50_1323 pseudo 2304695 RPL21P111 ribosomal protein L21 pseudogene 111 19123937 100271439 NG_010423,AL354869 RPL21_51_1327 pseudo 2305490 RPL21P112 ribosomal protein L21 pseudogene 112 19123937 100270753 NG_009638,AL137061 RPL21_45_1329 pseudo 2304694 RPL21P113 ribosomal protein L21 pseudogene 113 19123937 100271440 NG_010430,AC092757 RPL21_51_1437 pseudo 2304693 RPL21P114 ribosomal protein L21 pseudogene 114 19123937 100271441 AC092754,NG_010434 RPL21_52_1438 pseudo 2304692 RPL21P115 ribosomal protein L21 pseudogene 115 19123937 100271443 NG_010440,AC020779 RPL21_54_1451 pseudo 2304691 RPL21P116 ribosomal protein L21 pseudogene 116 19123937 100271444 NG_010446,AC103975 RPL21_55_1456 pseudo 2304490 RPL21P117 ribosomal protein L21 pseudogene 117 19123937 729241 NG_009622,AC092754 RPL21_53_1439 pseudo 2304689 RPL21P118 ribosomal protein L21 pseudogene 118 19123937 100271446 NG_010453,AC009120 RPL21_57_1497 pseudo 2305579 RPL21P119 ribosomal protein L21 pseudogene 119 19123937 653737 NG_010884,AC087190 RPL21_56_1471 pseudo 1348194 RPL21P12 ribosomal protein L21 pseudogene 12 122409 NG_002482,AL161669 pseudo 2304482 RPL21P120 ribosomal protein L21 pseudogene 120 19123937 731688 AC233702,NG_009668,AC138710 RPL21_57_1527 pseudo 2304690 RPL21P121 ribosomal protein L21 pseudogene 121 19123937 100271445 NG_010450,AC127537 RPL21_56_1523 pseudo 2304688 RPL21P122 ribosomal protein L21 pseudogene 122 19123937 100271447 NG_010456,AC005410 RPL21_58_1515 pseudo 2304687 RPL21P123 ribosomal protein L21 pseudogene 123 19123937 100271448 NG_010460,AC104564 RPL21_59_1535 pseudo 2304685 RPL21P124 ribosomal protein L21 pseudogene 124 19123937 100271450 NG_010469,AC091180 RPL21_60_1556 pseudo 2304969 RPL21P125 ribosomal protein L21 pseudogene 125 19123937 100129685 NG_010788,AC132942 RPL21_55_1506 pseudo 2304686 RPL21P126 ribosomal protein L21 pseudogene 126 19123937 100271449 NG_010465,AC090383 RPL21_59_1605 pseudo 2304683 RPL21P127 ribosomal protein L21 pseudogene 127 19123937 100271452 NG_010481,AP001025 RPL21_61_1581 pseudo 2305475 RPL21P128 ribosomal protein L21 pseudogene 128 19123937 440487 NG_010871,AC022795 RPL21_62_1585 pseudo 2304684 RPL21P129 ribosomal protein L21 pseudogene 129 19123937 100271451 NG_010476,AC008812 RPL21_60_1619 pseudo 1348658 RPL21P13 ribosomal protein L21 pseudogene 13 19123937 319144 NG_002520,AL138976 RPL21_52_1410 pseudo 2304682 RPL21P130 ribosomal protein L21 pseudogene 130 19123937 100271453 NG_010486,AC010618 RPL21_63_1633 pseudo 2304420 RPL21P131 ribosomal protein L21 pseudogene 131 19123937 388532 NG_010937,AC010485 RPL21_64_1647 pseudo 2304763 RPL21P132 ribosomal protein L21 pseudogene 132 19123937 100271390 NG_010154,AL035422 RPL21_62_1798 pseudo 2304762 RPL21P133 ribosomal protein L21 pseudogene 133 19123937 100271391 NG_010165,AL672032 RPL21_63_1815 pseudo 2305106 RPL21P134 ribosomal protein L21 pseudogene 134 19123937 728782 NG_011068,AL137013 RPL21_61_1788 pseudo 2303316 RPL21P14 ribosomal protein L21 pseudogene 14 19123937 729208 NG_009507,AC090515 HsT16795|RPL21_53_1436 pseudo 2303445 RPL21P15 ribosomal protein L21 pseudogene 15 19123937 654385 NG_009532,AC090543 HsT18206|RPL21_54_1444 pseudo 1350064 RPL21P16 ribosomal protein L21 pseudogene 16 19123937 729402 NG_009450,AC073587 RPL21_38_1104 pseudo 2303332 RPL21P17 ribosomal protein L21 pseudogene 17 19123937 727810 NG_009372,AC018814 RPL21_9_342 pseudo 2303827 RPL21P18 ribosomal protein L21 pseudogene 18 19123937 729484 NG_009709,AC135255 RPL21_46_1252 pseudo 2305762 RPL21P19 ribosomal protein L21 pseudogene 19 19123937 641293 NG_005331,AL592114,AB209100 BAD92337,Q59GK9 Hs.679502 RPL21_7_151 pseudo 1353492 RPL21P2 ribosomal protein L21 pseudogene 2 19123937 140715 NG_000986,AL356414 RPL21_65_1679|bA352D3.1 pseudo 2304398 RPL21P20 ribosomal protein L21 pseudogene 20 19123937 388621 NG_010042,AL031985 RPL21_3_36 pseudo 2305403 RPL21P21 ribosomal protein L21 pseudogene 21 19123937 100270877 NG_010149,AL590639 RPL21_1_11 pseudo 2305402 RPL21P22 ribosomal protein L21 pseudogene 22 19123937 100270878 NG_010153,AC114495 RPL21_2_29 pseudo 2305401 RPL21P23 ribosomal protein L21 pseudogene 23 19123937 100270879 NG_010163,AC099562 RPL21_2_54 pseudo 2305400 RPL21P24 ribosomal protein L21 pseudogene 24 19123937 100270880 NG_010168,AL356458 RPL21_4_45 pseudo 2305399 RPL21P25 ribosomal protein L21 pseudogene 25 19123937 100270881 NG_010175,AL356968 RPL21_5_46 pseudo 2305398 RPL21P26 ribosomal protein L21 pseudogene 26 19123937 100270882 NG_010180,AC118469 RPL21_6_74 pseudo 2305281 RPL21P27 ribosomal protein L21 pseudogene 27 19123937 100270952 NG_010535,AL451074 RPL21_3_112 pseudo 2305604 RPL21P28 ribosomal protein L21 pseudogene 28 19123937 100131205 NR_026911,AC092814,AL592297,CH471100,EC535637,EC565990 EAW93399 RPL21_8_160 pseudo 2305365 RPL21P29 ribosomal protein L21 pseudogene 29 19123937 440575 NG_011325,AL590556 RPL21_1_19 pseudo 1350158 RPL21P3 ribosomal protein L21 pseudogene 3 128760 NG_000976,AL121893 bA189K21.4 pseudo 2305035 RPL21P30 ribosomal protein L21 pseudogene 30 19123937 100271157 NG_010278,AC008280 RPL21_10_219 pseudo 2305032 RPL21P31 ribosomal protein L21 pseudogene 31 19123937 100271160 NG_010296,AC007435 RPL21_12_296 pseudo 2305031 RPL21P32 ribosomal protein L21 pseudogene 32 19123937 100271161 NG_010300,AC097500 RPL21_13_305 pseudo 2305280 RPL21P33 ribosomal protein L21 pseudogene 33 19123937 100270953 NG_010539,AC010733 RPL21_5_222 pseudo 2305279 RPL21P34 ribosomal protein L21 pseudogene 34 19123937 100270954 NG_010548,AC017079 RPL21_6_274 pseudo 2305278 RPL21P35 ribosomal protein L21 pseudogene 35 19123937 100270955 NG_010553,AC104634 RPL21_8_333 pseudo 2305277 RPL21P36 ribosomal protein L21 pseudogene 36 19123937 100270956 NG_010557,AC009414 RPL21_9_206 pseudo 2305497 RPL21P37 ribosomal protein L21 pseudogene 37 19123937 100129141 NG_009700,AC092155,AC107083 RPL21_11_229 pseudo 2305529 RPL21P38 ribosomal protein L21 pseudogene 38 19123937 100131481 NG_010810,AC064826 RPL21_7_292 pseudo 2305819 RPL21P39 ribosomal protein L21 pseudogene 39 19123937 389156 NG_009665,AC055758 RPL21_14_415 pseudo 1345186 RPL21P4 ribosomal protein L21 pseudogene 4 19123937,8938427 140660 NG_000980,AC135721,L78833 RPL21_58_1548 pseudo 2305034 RPL21P40 ribosomal protein L21 pseudogene 40 19123937 100271158 NG_010284,AC094019 RPL21_10_356 pseudo 2305033 RPL21P41 ribosomal protein L21 pseudogene 41 19123937 100271159 NG_010291,AC104440 RPL21_11_380 pseudo 2305030 RPL21P42 ribosomal protein L21 pseudogene 42 19123937 100271162 NG_010306,AC068985 RPL21_13_421 pseudo 2305029 RPL21P43 ribosomal protein L21 pseudogene 43 19123937 100271163 NG_010312,AC092954 RPL21_15_434 pseudo 1605778 RPL21P44 ribosomal protein L21 pseudogene 44 19123937,12477932,17207965 402176 NR_027153,AC110792,BC057822 ADQ33023 Hs.452943 RPL21_17_477 pseudo 2305683 RPL21P45 ribosomal protein L21 pseudogene 45 19123937 727821 NG_009653,AC108022 RPL21_15_469 pseudo 2304628 RPL21P46 ribosomal protein L21 pseudogene 46 19123937 645174 NG_009673,AC114728 RPL21_14_463 pseudo 2305028 RPL21P47 ribosomal protein L21 pseudogene 47 19123937 100271164 NG_010317,AC105313 RPL21_16_486 pseudo 2305027 RPL21P48 ribosomal protein L21 pseudogene 48 19123937 100271165 NG_010321,AC058823 RPL21_17_503 pseudo 2305026 RPL21P49 ribosomal protein L21 pseudogene 49 19123937 100271166 NG_011346,AF213884 RPL21_18_504 pseudo 2303329 RPL21P5 ribosomal protein L21 pseudogene 5 641613 NG_009393,AL121808 pseudo 2305025 RPL21P50 ribosomal protein L21 pseudogene 50 19123937 100271167 NG_010331,AC096732 RPL21_18_516 pseudo 2305023 RPL21P51 ribosomal protein L21 pseudogene 51 19123937 100271169 NG_010345,AC106872 RPL21_20_533 pseudo 2305787 RPL21P52 ribosomal protein L21 pseudogene 52 19123937 100128351 NG_009687,AC107398 RPL21_16_474 pseudo 2305797 RPL21P53 ribosomal protein L21 pseudogene 53 19123937 653156 NG_010520,AC093591 RPL21_19_517 pseudo 2305024 RPL21P54 ribosomal protein L21 pseudogene 54 19123937 100271168 NG_010337,AC026801 RPL21_19_553 pseudo 2305022 RPL21P55 ribosomal protein L21 pseudogene 55 19123937 100271170 NG_010351,AC112206 RPL21_20_571 pseudo 2305021 RPL21P56 ribosomal protein L21 pseudogene 56 19123937 100271171 NG_010357,AC010469 RPL21_21_549 pseudo 2305020 RPL21P57 ribosomal protein L21 pseudogene 57 19123937 100271172 NG_010361,AC008379 RPL21_21_631 pseudo 2305019 RPL21P58 ribosomal protein L21 pseudogene 58 19123937 100271173 NG_010365,AC010409 RPL21_22_606 pseudo 2305018 RPL21P59 ribosomal protein L21 pseudogene 59 19123937 100271174 NG_010369,AC008489 RPL21_22_635 pseudo 2303345 RPL21P6 ribosomal protein L21 pseudogene 6 19123937 652975 NG_009398,AL356801 RPL21_47_1368 pseudo 2305017 RPL21P60 ribosomal protein L21 pseudogene 60 19123937 100271175 NG_010381,AC146507 RPL21_23_641 pseudo 2304631 RPL21P61 ribosomal protein L21 pseudogene 61 19123937 645157 NG_009666,AL589647 RPL21_24_663 pseudo 2305731 RPL21P62 ribosomal protein L21 pseudogene 62 19123937 442160 NG_009672,AL354868 RPL21_23_656 pseudo 2305016 RPL21P63 ribosomal protein L21 pseudogene 63 19123937 100271176 NG_010385,AL139039 RPL21_24_657 pseudo 2305015 RPL21P64 ribosomal protein L21 pseudogene 64 19123937 100271177 NG_010391,AL080315 RPL21_25_752 pseudo 2305014 RPL21P65 ribosomal protein L21 pseudogene 65 19123937 100271178 AL390074,NG_010397 RPL21_26_729 pseudo 2305013 RPL21P66 ribosomal protein L21 pseudogene 66 19123937 100271179 NG_010401,AL513524 RPL21_26_756 pseudo 2305012 RPL21P67 ribosomal protein L21 pseudogene 67 19123937 100271180 NG_010407,AL445249 RPL21_27_754 pseudo 2304390 RPL21P68 ribosomal protein L21 pseudogene 68 19123937 645452 NG_010409,AL024509 RPL21_25_668 pseudo 2304634 RPL21P69 ribosomal protein L21 pseudogene 69 19123937 642738 NG_009725,AL078604 RPL21_27_774 pseudo 1346724 RPL21P7 ribosomal protein L21 pseudogene 7 11181995 145370 NG_002487,AL355076,AL359236,CH471061 EAW80907 pseudo 2305614 RPL21P70 ribosomal protein L21 pseudogene 70 19123937 646489 NG_011366,AL121657 RPL21_4_205 pseudo 2305791 RPL21P71 ribosomal protein L21 pseudogene 71 19123937 729962 NG_011368,AC092957 RPL21_12_416 pseudo 2305011 RPL21P72 ribosomal protein L21 pseudogene 72 19123937 100271181 NG_010413,AC092427,CH236953 RPL21_28_779 pseudo 2305010 RPL21P73 ribosomal protein L21 pseudogene 73 19123937 100271182 NG_010418,AC013429,CH236950 RPL21_28_856 pseudo 2305008 RPL21P74 ribosomal protein L21 pseudogene 74 19123937 100271184 NG_010429,AC096775,CH236949 RPL21_30_821 pseudo 2305354 RPL21P75 ribosomal protein L21 pseudogene 75 19123937,9847074 728501 NG_006559,AC005062,CH236948 RPL21_29_789 pseudo 2304415 RPL21P76 ribosomal protein L21 pseudogene 76 19123937,12690205 645373 NG_005567,AC019084,CH236954 EAL23930 RPL21_31_868 pseudo 2305009 RPL21P77 ribosomal protein L21 pseudogene 77 19123937 100271183 NG_010422,AC105910 RPL21_29_883 pseudo 2305007 RPL21P78 ribosomal protein L21 pseudogene 78 19123937 100271185 NG_010433,AF305872 RPL21_30_950 pseudo 2305004 RPL21P79 ribosomal protein L21 pseudogene 79 19123937 100271188 NG_010445,AC022034 RPL21_33_903 pseudo 1346425 RPL21P8 ribosomal protein L21 pseudogene 8 19123937 319145 NG_002521,AL355840 RPL21_48_1381 pseudo 2305744 RPL21P80 ribosomal protein L21 pseudogene 80 19123937 100133273 NG_009717,AC087343 RPL21_32_892 pseudo 2304764 RPL21P81 ribosomal protein L21 pseudogene 81 19123937 100271389 NG_000837,AC002107,AL158826 RPL21_35_1017 pseudo 2304497 RPL21P82 ribosomal protein L21 pseudogene 82 19123937 650059 NG_009681,AL391219 RPL21_34_997 pseudo 2305006 RPL21P83 ribosomal protein L21 pseudogene 83 19123937 100271186 NG_010437,AL158156 RPL21_31_978 pseudo 2305005 RPL21P84 ribosomal protein L21 pseudogene 84 19123937 100271187 NG_010439,AL353705 RPL21_32_987 pseudo 2305003 RPL21P85 ribosomal protein L21 pseudogene 85 19123937 100271189 NG_010449,AL353748 RPL21_33_996 pseudo 2305002 RPL21P86 ribosomal protein L21 pseudogene 86 19123937 100271190 NG_010452,AL137074 RPL21_34_998 pseudo 2305452 RPL21P87 ribosomal protein L21 pseudogene 87 19123937 100131672 NG_010463,AL158823 RPL21_35_1007 pseudo 2304711 RPL21P88 ribosomal protein L21 pseudogene 88 19123937 100271421 NG_010322,AL645634 RPL21_36_1036 pseudo 2304710 RPL21P89 ribosomal protein L21 pseudogene 89 19123937 100271422 NG_010325,AC069546 RPL21_37_1041 pseudo 1343107 RPL21P9 ribosomal protein L21 pseudogene 9 283562 NG_002491,AL049779 pseudo 2304709 RPL21P90 ribosomal protein L21 pseudogene 90 19123937 100271423 NG_010332,AL513355 RPL21_37_1084 pseudo 2304708 RPL21P91 ribosomal protein L21 pseudogene 91 19123937 100271424 NG_010338,AL354951 RPL21_39_1094 pseudo 2305898 RPL21P92 ribosomal protein L21 pseudogene 92 19123937 100130400 NG_009689,AL133551 RPL21_38_1051 pseudo 2305611 RPL21P93 ribosomal protein L21 pseudogene 93 19123937 653665 NG_010505,AL390248 RPL21_36_1027 pseudo 2304707 RPL21P94 ribosomal protein L21 pseudogene 94 19123937 100271425 NG_010346,AC091564 RPL21_39_1117 pseudo 2304706 RPL21P95 ribosomal protein L21 pseudogene 95 19123937 100271427 NG_010358,AP002812 RPL21_40_1159 pseudo 2304705 RPL21P96 ribosomal protein L21 pseudogene 96 19123937 100271428 NG_010362,AP001486 RPL21_41_1169 pseudo 2305379 RPL21P97 ribosomal protein L21 pseudogene 97 19123937,12477932,17353931 387753 NG_010883,AC011979 RPL21_40_1120 pseudo 2305836 RPL21P98 ribosomal protein L21 pseudogene 98 19123937 653079 NG_009659,AC107032 RPL21_47_1259 pseudo 2304704 RPL21P99 ribosomal protein L21 pseudogene 99 19123937 100271429 NG_010366,AC009510 RPL21_41_1222 pseudo 733560 RPL22 ribosomal protein L22 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq] 1580863 8135813,15189156,14567916,16564389,16556938,15812220,15635413,15489334,14702039,12477932,11875025,11790298,11401437,11056215,20936779,10712515,9847074,8722009,1846807,16169070,18809582,19640998 6146 AB046408,AB061849,AL031847,CH471130,AF113701,AF136171,AK097075,AK311749,AL110153,BC011829,BC020237,BC032295,BC035566,BC058887,BC066314,NM_000983,BU927988,CA336134,CR456873,CR596718,CR596756,CR612032,CR617570,CR619731,CR624608,D17652,X59357 NP_000974,BAB21254,BAB79487,CAI19448,EAW71518,EAW71519,EAW71520,AAP97261,BAG34692,AAH35566,AAH58887,AAH66314,CAG33154,BAA04545,CAA42007,P35268,Q7Z4W8,Q8WYP0,Q9BYF5 Hs.515329,Hs.554762 EAP|HBP15|HBP15/L22 60S ribosomal protein L22|EBER-associated protein|Epstein-Barr virus small RNA-associated protein|Epstein-Barr-encoded RNA-associated protein|heparin-binding protein 15|heparin-binding protein HBp15 protein-coding 1602286 RPL22L1 ribosomal protein L22-like 1 15489334,12477932,8076819,19615732,20379614 200916 NM_001099645,AC061708,CH471052,AL110170,BC062731,BC107708,BM451642,CA449264 NP_001093115,EAW78503,CAI46223,AAH62731,AAI07709,Q5JWX6,Q6P5R6 Hs.380933 MGC104449 60S ribosomal protein L22-like 1|OTTHUMP00000213738|OTTHUMP00000213739|OTTHUMP00000213740 protein-coding 1342840 RPL22P1 ribosomal protein L22 pseudogene 1 19123937,8395054,7533526 125371 NG_009515,AC074033 RPL22_5_435 pseudo 2305753 RPL22P10 ribosomal protein L22 pseudogene 10 19123937 100128408 NG_010803,AC092106 RPL22_3_253 pseudo 2305370 RPL22P11 ribosomal protein L22 pseudogene 11 19123937 402100 NG_010934,AC074387 RPL22P15|RPL22_3_260 pseudo 2305719 RPL22P12 ribosomal protein L22 pseudogene 12 19123937 727747 NG_011008,AC114776,AC226101 RPL22_6_262 pseudo 2305733 RPL22P13 ribosomal protein L22 pseudogene 13 19123937 442108 NG_011308,AC138779 RPL22_7_478 pseudo 2305274 RPL22P14 ribosomal protein L22 pseudogene 14 19123937 100270960 NG_010576,AL353692 RPL22_8_723 pseudo 2304501 RPL22P15 ribosomal protein L22 pseudogene 15 19123937 645231 NG_010573,AC074387,AC109815,CR590757 RPL22P9|RPL22_5_261 pseudo 2305275 RPL22P16 ribosomal protein L22 pseudogene 16 19123937 100270959 NG_010570,AC092610 RPL22_6_780 pseudo 2304887 RPL22P17 ribosomal protein L22 pseudogene 17 19123937 100271289 NG_010956,AL358790 RPL22_7_1091 pseudo 2304886 RPL22P18 ribosomal protein L22 pseudogene 18 19123937 100271290 NG_010959,AL356095 RPL22_9_1070 pseudo 2305623 RPL22P19 ribosomal protein L22 pseudogene 19 19123937 644022 NG_010946,AC093719 RPL22_8_1294 pseudo 1352841 RPL22P2 ribosomal protein L22 pseudogene 2 19123937 326292 NG_002544,AF111169 RPL22_9_1393 pseudo 2305673 RPL22P20 ribosomal protein L22 pseudogene 20 19123937 100128664 NG_010804,CR383656 RPL22_10_1337 pseudo 2304681 RPL22P21 ribosomal protein L22 pseudogene 21 19123937 100271455 NG_010494,AC002553 RPL22_11_1520 pseudo 2305713 RPL22P22 ribosomal protein L22 pseudogene 22 19123937 100130922 NG_010552,AL031313 RPL22_10_1790 pseudo 2305905 RPL22P3 ribosomal protein L22 pseudogene 3 19123937,11181995 729662 NG_006651,AL358794,CH471167 EAW51776 RPL22_1_15 pseudo 2305498 RPL22P4 ribosomal protein L22 pseudogene 4 19123937 100129102 NG_010420,BX571818 RPL22_2_154 pseudo 2304477 RPL22P5 ribosomal protein L22 pseudogene 5 19123937 100132479 NG_010661,AL109948 RPL22_2_96 pseudo 2304967 RPL22P6 ribosomal protein L22 pseudogene 6 19123937 100132047 NG_011077,AL357493 RPL22_1_94 pseudo 2304735 RPL22P7 ribosomal protein L22 pseudogene 7 19123937 100129819 NG_010140,AC079776 RPL22_4_275 pseudo 2305276 RPL22P8 ribosomal protein L22 pseudogene 8 19123937 100270957 NG_010562,AC009963 RPL22_4_256 pseudo 1354324 RPL23 ribosomal protein L23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 20936779,15189156,18029348,14567916,19160485,16189514,15592455,15489334,15314174,15314173,15308643,15149863,12477932,11875025,9582194,9114010,8722009,1861993,1874450,19410547 9349 NM_000978,AB061827,AC110749,CH471152,AK024749,BC003518,BC010114,BC034378,BC062716,BC104651,BC106061,CA437923,CR604268,CR610098,X52839,X55954 NP_000969,BAB79465,EAW60539,EAW60540,EAW60541,EAW60542,AAH03518,AAH10114,AAH62716,AAI04652,AAI06062,CAA37023,CAA39417,P62829,Q9BTQ7,ABM84144,ABM87546 Hs.406300 MGC111167|MGC117346|MGC72008|rpL17 60S ribosomal protein L17|60S ribosomal protein L23|OTTHUMP00000164153|ribosomal protein L17 protein-coding 1312599 RPL23A ribosomal protein L23a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17353931,9417910,15189156,14567916,17081983,15489334,15342556,12477932,11790298,11401437,9687515,9053844,8722009,8662070,11682607,11129635 6147 NM_000984,AC010761,AF001689,CH471159,AK130965,AK312123,AW044310,BC014459,BC058041,BE464375,BE731473,BG476195,BP382007,L13799,U02032,U37230,U43701 NP_000975,AAC51934,EAW51131,EAW51132,BAG35059,AAH14459,AAH58041,AAA35681,AAA03341,AAB17510,AAB03210,P62750 Hs.419463 FLJ27455|MDA20 60S ribosomal protein L23a|OTTHUMP00000163537|melanoma differentiation-associated gene 20 protein-coding 1343228 RPL23AP1 ribosomal protein L23a pseudogene 1 19123937,8662070 6148 NG_001027,AL022723,AL645939,AL669813,AL844851,BX005428,BX927250,CR753818 RPL23A_15_676|dJ377H14.8 pseudo 1352946 RPL23AP10 ribosomal protein L23a pseudogene 10 19123937 326293 NG_002545,AL359240 RPL23A_28_1405 pseudo 1350361 RPL23AP11 ribosomal protein L23a pseudogene 11 19123937 326294 NG_002546,AL132801 RPL23A_29_1408 pseudo 1346230 RPL23AP12 ribosomal protein L23a pseudogene 12 19123937 391282 NG_009514,AF064859 RPL23A_41_1732 pseudo 1625834 RPL23AP14 ribosomal protein L23a pseudogene 14 19123937,11181995 341511 NG_006075,AC005841,CH471116 EAW88891 RPL23A_29_1192 pseudo 2304364 RPL23AP15 ribosomal protein L23a pseudogene 15 19123937 391175 NG_006072,AL139288 RPL23A_4_173 pseudo 2304982 RPL23AP16 ribosomal protein L23a pseudogene 16 19123937 647201 NG_009787,AC099335 RPL23A_4_145 pseudo 2305054 RPL23AP17 ribosomal protein L23a pseudogene 17 19123937 100271138 NG_010181,AL110502 RPL23A_3_37 pseudo 2305573 RPL23AP18 ribosomal protein L23a pseudogene 18 19123937 728134 NG_006077,AL360091 RPL23A_3_161 pseudo 2305644 RPL23AP19 ribosomal protein L23a pseudogene 19 19123937 100131143 NG_009753,AL354930,AL357552 RPL23A_2_8 pseudo 1342571 RPL23AP2 ribosomal protein L23a pseudogene 2 19123937 401904 NG_006074,AD000091 RPL23A_38_1631 pseudo 2305805 RPL23AP20 ribosomal protein L23a pseudogene 20 19123937 645962 NG_009606,AL365366,BX571673 RPL23A_6_188 pseudo 2305463 RPL23AP21 ribosomal protein L23a pseudogene 21 19123937 728481 NG_009563,AP006222 RPL23A_1_1 pseudo 2304885 RPL23AP22 ribosomal protein L23a pseudogene 22 19123937 100271291 NG_010963,AL157837 RPL23A_2_142 pseudo 2304884 RPL23AP23 ribosomal protein L23a pseudogene 23 19123937 100271292 AL391994,NG_010968 RPL23A_5_178 pseudo 2305352 RPL23AP24 ribosomal protein L23a pseudogene 24 19123937 728517 NG_011020,AL732372 RPL23A_1_2 pseudo 2305577 RPL23AP25 ribosomal protein L23a pseudogene 25 19123937 653789 NG_011146,AL672183 RPL23A_7_192 pseudo 2305851 RPL23AP26 ribosomal protein L23a pseudogene 26 19123937 391490 NG_010355,AC104634 RPL23A_14_334 pseudo 2304680 RPL23AP27 ribosomal protein L23a pseudogene 27 19123937 100271456 NG_010498,AC068057 RPL23A_10_252 pseudo 2304679 RPL23AP28 ribosomal protein L23a pseudogene 28 19123937,19373437 100271457 NG_010502,AC009302 RPL23A_10_329 pseudo 2304678 RPL23AP29 ribosomal protein L23a pseudogene 29 19123937 100271458 NG_010509,AC012501 RPL23A_11_287 pseudo 1345681 RPL23AP3 ribosomal protein L23a pseudogene 3 19123937,10830953,9740676 8489 NG_000878,AB003151,AP000688 RPL23A_37_1729 pseudo 2304677 RPL23AP30 ribosomal protein L23a pseudogene 30 19123937 100271459 NG_010512,AC007272 RPL23A_12_308 pseudo 2304676 RPL23AP31 ribosomal protein L23a pseudogene 31 19123937 100271460 NG_010518,AC009974 RPL23A_13_326 pseudo 1604327 RPL23AP32 ribosomal protein L23a pseudogene 32 19123937,12477932 56969 NR_002229,AC092839,AL390140,BC067268,BC096706,BC096740,BC098172 AAX93105,Q53RC5 Hs.657366 DKFZp547I014|RPL23A_9_220 pseudo 2304883 RPL23AP33 ribosomal protein L23a pseudogene 33 19123937 100271293 NG_010972,AC010747 RPL23A_7_304 pseudo 2304882 RPL23AP34 ribosomal protein L23a pseudogene 34 19123937 100271294 NG_010979,AC093690 RPL23A_8_204 pseudo 2304881 RPL23AP35 ribosomal protein L23a pseudogene 35 19123937 100271295 NG_010987,AC093038 RPL23A_8_306 pseudo 2304880 RPL23AP36 ribosomal protein L23a pseudogene 36 19123937 100271296 NG_010993,AC023271 RPL23A_9_314 pseudo 2305527 RPL23AP37 ribosomal protein L23a pseudogene 37 19123937 130773 NG_011103,AC114752 RPL23A_5_234 pseudo 2305818 RPL23AP38 ribosomal protein L23a pseudogene 38 19123937 391504 NG_010432,AC090043 RPL23A_11_340 pseudo 2304675 RPL23AP39 ribosomal protein L23a pseudogene 39 19123937 100271461 NG_010521,AC090042 RPL23A_15_341 pseudo 1353745 RPL23AP4 ribosomal protein L23a pseudogene 4 19123937,10830953 54029 NG_000910,AP001478,AP001761 RPL23A_42_1735 pseudo 2304674 RPL23AP40 ribosomal protein L23a pseudogene 40 19123937 100271462 NG_010526,AC067728 RPL23A_17_408 pseudo 2305542 RPL23AP41 ribosomal protein L23a pseudogene 41 19123937 646685 NG_010152,AC132032 RPL23A_18_409 pseudo 2305225 RPL23AP42 ribosomal protein L23a pseudogene 42 19123937,16341674,11181995 647099 NG_010965,AC112491,CH471052,BG027986,BM794927 EAW78613,EAW78614 Hs.419463 RPL23A_13_431 pseudo 2305822 RPL23AP43 ribosomal protein L23a pseudogene 43 19123937 389101 NG_011232,AC139452 RPL23A_16_360 pseudo 2305703 RPL23AP44 ribosomal protein L23a pseudogene 44 19123937 391825 NG_010762,AC106806 RPL23A_14_607 pseudo 2305877 RPL23AP45 ribosomal protein L23a pseudogene 45 19123937 729764 NG_010858,AC138031 RPL23A_19_648 pseudo 2305691 RPL23AP46 ribosomal protein L23a pseudogene 46 19123937 442260 NG_010780,AL139102 RPL23A_17_757 pseudo 2304485 RPL23AP47 ribosomal protein L23a pseudogene 47 19123937 729277 NG_010975,AL731684 RPL23A_21_778 pseudo 2305347 RPL23AP48 ribosomal protein L23a pseudogene 48 19123937 728567 NG_011281,AL603865 RPL23A_16_748 pseudo 2305757 RPL23AP49 ribosomal protein L23a pseudogene 49 19123937 653236 NG_011379,AC108724 RPL23A_12_383 pseudo 1344515 RPL23AP5 ribosomal protein L23a pseudogene 5 19123937,11157797,9054936 729480 NG_006537,AE006463,Z97634 AAK61228 RPL23AL|RPL23A_35_1465|RPL2B|c367G8.3|rjd10 pseudo 2305576 RPL23AP50 ribosomal protein L23a pseudogene 50 19123937 728106 NG_011358,AL024507 RPL23A_20_731 pseudo 2304673 RPL23AP51 ribosomal protein L23a pseudogene 51 19123937 100271464 NG_010537,AC007161,CH236948 RPL23A_18_782 pseudo 2304672 RPL23AP52 ribosomal protein L23a pseudogene 52 19123937 100271465 NG_010541,AC005007,CH236948 RPL23A_19_784 pseudo 2305590 RPL23AP53 ribosomal protein L23a pseudogene 53 19123937,16344560,12477932 644128 NR_003572,AC004908,AC131281,AK127000,BC052779,BC064938,BC086864,DA238450 Hs.652159 DKFZp434B1135|FLJ45055|RPL23A_20_869 pseudo 2304671 RPL23AP54 ribosomal protein L23a pseudogene 54 19123937 100271466 NG_010550,AC091193 RPL23A_22_870 pseudo 2304670 RPL23AP55 ribosomal protein L23a pseudogene 55 19123937 100271467 NG_010555,AC100861 RPL23A_23_884 pseudo 2305843 RPL23AP56 ribosomal protein L23a pseudogene 56 19123937 645809 NG_011378,AC103764 RPL23A_21_952 pseudo 2305837 RPL23AP57 ribosomal protein L23a pseudogene 57 19123937 648294 NG_010529,AL162411 RPL23A_24_958 pseudo 2304461 RPL23AP58 ribosomal protein L23a pseudogene 58 19123937 100271616 NG_009956,AL157386 RPL23A_23_1090 pseudo 2304459 RPL23AP59 ribosomal protein L23a pseudogene 59 19123937 100271618 NG_009967,AL133395 RPL23A_25_1093 pseudo 1349675 RPL23AP6 ribosomal protein L23a pseudogene 6 19123937 128709 NG_000971,AL023913 RPL23A_36_1683|dJ1068F16.1 pseudo 2304858 RPL23AP60 ribosomal protein L23a pseudogene 60 19123937 728933 NG_010522,BX322534 RPL23A_26_1111 pseudo 2305462 RPL23AP61 ribosomal protein L23a pseudogene 61 19123937 728484 NG_010857,AL589822 RPL23A_22_1044 pseudo 2304460 RPL23AP62 ribosomal protein L23a pseudogene 62 19123937 100271617 NG_009961,AP002499 RPL23A_24_1177 pseudo 2305874 RPL23AP63 ribosomal protein L23a pseudogene 63 19123937 729798 NG_011026,AC068205 RPL23A_28_1140 pseudo 2304627 RPL23AP64 ribosomal protein L23a pseudogene 64 19123937,12477932 649946 NR_003040,AP003392,BC017930,BC060042 Hs.647213 RPL23A_25_1182 pseudo 2305628 RPL23AP65 ribosomal protein L23a pseudogene 65 19123937 440027 NG_011129,AC011979 RPL23A_27_1119 pseudo 2304457 RPL23AP66 ribosomal protein L23a pseudogene 66 19123937 100271620 NG_009979,AC007621 RPL23A_30_1207 pseudo 2304455 RPL23AP67 ribosomal protein L23a pseudogene 67 19123937 100271622 NG_009994,AC026786 RPL23A_31_1299 pseudo 2305865 RPL23AP68 ribosomal protein L23a pseudogene 68 19123937 100130555 NG_011302,AC129351 RPL23A_26_1264 pseudo 2304454 RPL23AP69 ribosomal protein L23a pseudogene 69 19123937 100271623 NG_010001,AL359757 RPL23A_32_1304 pseudo 1352544 RPL23AP7 ribosomal protein L23a pseudogene 7 19123937,16344560,14702039,12477932,8889548,8799457 118433 NR_024529,NR_024528,NR_000029,NR_024530,NR_024531,AL078621,AK055264,AW340513,BC000596,BC105600,BE464804,BG335018,BI464848,BM661697,BX643196,DA484374,DA864496 Hs.595056,Hs.720253 MGC104442|RPL23AL1|RPL23A_6_267|bA395L14.9 pseudo 2304458 RPL23AP70 ribosomal protein L23a pseudogene 70 19123937 100271619 NG_009974,AL121594 RPL23A_27_1353 pseudo 2305512 RPL23AP71 ribosomal protein L23a pseudogene 71 19123937 644384 NG_010173,AL445363,CR595167 Hs.533982 RPL23A_33_1349 pseudo 2304456 RPL23AP72 ribosomal protein L23a pseudogene 72 19123937 100271621 NG_009986,AC007494 RPL23A_30_1480 pseudo 2304452 RPL23AP73 ribosomal protein L23a pseudogene 73 19123937 100271625 NG_010014,AC004706 RPL23A_36_1508 pseudo 2305907 RPL23AP74 ribosomal protein L23a pseudogene 74 19123937,11181995 729617 NG_010068,AC005884,CH471179 EAW51418 RPL23A_37_1566 pseudo 2305539 RPL23AP75 ribosomal protein L23a pseudogene 75 19123937 728207 NG_010749,AC018629 RPL23A_32_1546 pseudo 2305882 RPL23AP76 ribosomal protein L23a pseudogene 76 19123937 441781 NG_010940,AC005773,CH471108 EAW89951 RPL23A_31_1517 pseudo 2305350 RPL23AP77 ribosomal protein L23a pseudogene 77 19123937 728538 NG_011124,AC067796 RPL23A_33_1589 pseudo 2304453 RPL23AP78 ribosomal protein L23a pseudogene 78 19123937 100271624 NG_010009,AC012616 RPL23A_34_1620 pseudo 2304451 RPL23AP79 ribosomal protein L23a pseudogene 79 19123937 100271626 NG_010019,AC016629 RPL23A_39_1676 pseudo 1625647 RPL23AP8 ribosomal protein L23a pseudogene 8 19123937 641614 NG_006076,AL355885 RPL23AP9|RPL23A_34_1351 pseudo 2304418 RPL23AP80 ribosomal protein L23a pseudogene 80 19123937 390949 NG_010201,AC008745 RPL23A_35_1661 pseudo 2304450 RPL23AP81 ribosomal protein L23a pseudogene 81 19123937 100271627 NG_010024,AL022394 RPL23A_40_1702 pseudo 1606408 RPL23AP82 ribosomal protein L23a pseudogene 82 17207965,19123937,12477932 284942 NR_026981,NR_026982,AC002055,AC002056,AK293095,AL365511,BC010172,BC019348,BC065556,BQ668440,DC308368,AADB02274699,ABBA01006498 ADQ33086,BAF85784,CAB97207,Q9NPS7 Hs.406135 MGC70863|RPL23A_43_1761 pseudo 2305217 RPL23AP83 ribosomal protein L23a pseudogene 83 19123937 100131846 NG_009997,AL050309 RPL23A_38_1781 pseudo 1602988 RPL23AP9 ribosomal protein L23a pseudogene 9 122585 XR_017424,XR_019430 Hs.647560 pseudo 2305272 RPL23P10 ribosomal protein L23 pseudogene 10 19123937 100270962 NG_010585,AC084308 RPL23_2_893 pseudo 2304879 RPL23P11 ribosomal protein L23 pseudogene 11 19123937 100271297 NG_010998,AL117338 RPL23_6_1032 pseudo 1352398 RPL23P2 ribosomal protein L23 pseudogene 2 19123937,10830953 54028 NG_000909,AF129075,AL163249 RPL23_4_1724 pseudo 2305830 RPL23P3 ribosomal protein L23 pseudogene 3 19123937 100130630 NG_010377,AC104837 RPL23_1_65 pseudo 2305273 RPL23P4 ribosomal protein L23 pseudogene 4 19123937 100270961 NG_010580,AC009502 RPL23_2_327 pseudo 2305369 RPL23P5 ribosomal protein L23 pseudogene 5 19123937 402120 NG_011036,AC079834 RPL23_3_328 pseudo 2305358 RPL23P6 ribosomal protein L23 pseudogene 6 19123937 646949 NG_010199,AL136089 RPL23_1_689 pseudo 2305550 RPL23P7 ribosomal protein L23 pseudogene 7 19123937 442659 NG_009403,AC010677,CH236948 RPL23_5_797 pseudo 2304422 RPL23P8 ribosomal protein L23 pseudogene 8 19123937 222901 NR_026673,AC005251,CH236948,BE505019,EC453672 EAL24272 Hs.282235 RPL23_4_790 pseudo 2305337 RPL23P9 ribosomal protein L23 pseudogene 9 19123937 100129377 NG_010503,AC090142 RPL23_3_937 pseudo 731426 RPL24 ribosomal protein L24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 9582194,15231747,17220478,17353931,15189156,14567916,17081983,15489334,12962325,12477932,11875025,11401437,8722009,8428672,8012384,7821789 6152 NM_000986,AB007177,AB061828,AC084198,CH471052,Z64316,AK311992,BC000690,BC070193,BU754101,CD513036,CR456729,CR622107,D28400,M94314 NP_000977,BAA25836,BAB79466,EAW79780,EAW79781,EAW79782,EAW79783,EAW79784,BAG34930,AAH00690,AAH70193,CAG33010,BAA05766,AAC28251,P83731,ABM83547,ABM86787 Hs.477028,Hs.649475 60S ribosomal protein L24|60S ribosomal protein L30|OTTHUMP00000214162|OTTHUMP00000214387|ribosomal protein L30 protein-coding 1350491 RPL24P1 ribosomal protein L24 pseudogene 1 140757 NG_001000,AL049539 dJ836N17.3 pseudo 1346982 RPL24P2 ribosomal protein L24 pseudogene 2 19123937 140760 NG_001003,AL121759 RPL24_5_1691|dJ872K7.2 pseudo 1345776 RPL24P3 ribosomal protein L24 pseudogene 3 19123937 145235 NG_002525,AL133445 RPL24_2_1385 pseudo 1606095 RPL24P4 ribosomal protein L24 pseudogene 4 19123937 377381 NG_003160,AL158815 RPL24_1_692|dJ125M3.1 pseudo 2305536 RPL24P5 ribosomal protein L24 pseudogene 5 19123937 100129017 NG_011292,AL365258 RPL24_1_143 pseudo 2304736 RPL24P6 ribosomal protein L24 pseudogene 6 19123937 100129808 NG_009582,AC091633 RPL24_3_450 pseudo 2305271 RPL24P7 ribosomal protein L24 pseudogene 7 19123937 100270963 NG_010593,AC099544 RPL24_2_348 pseudo 2305270 RPL24P8 ribosomal protein L24 pseudogene 8 19123937 100270964 NG_010599,AL158153 RPL24_4_982 pseudo 1343578 RPL25P1 ribosomal protein L25 pseudogene 1 3459254 6153 1321610 RPL26 ribosomal protein L26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 18697920,18951086,19615732,8479925,17353931,15189156,14567916,15489334,12477932,11875025,11790298,11401437,9582194,8722009,16169070 6154 NM_000987,AB061829,AC135178,CH471108,L07287,AK311804,BC066316,BC071664,BI091167,BM928617,CR456828,CR598792,CR614577,CR625206 NP_000978,BAB79467,EAW90053,EAW90054,EAW90057,AAA60279,BAG34747,AAH71664,CAG33109,P61254,Q6IBH6 Hs.482144,Hs.644794,Hs.727539 60S ribosomal protein L26 protein-coding 1352940 RPL26L1 ribosomal protein L26-like 1 This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. Transcript variants utilizing alternative polyA signals exist. [provided by RefSeq] 1580863 15189156,14567916,15635413,15489334,12477932,11042152 51121 NM_016093,AC008429,CH471062,AF083248,AK128872,BC009766,BC017360,BC070192 NP_057177,EAW61420,EAW61421,AAD39846,BAG54744,AAH17360,AAH70192,Q9UNX3,ABM83543,ABM86783 Hs.546390 FLJ46904|RPL26P1 60S ribosomal protein L26-like 1|ribosomal protein L26 homolog|ribosomal protein L26 pseudogene 1 protein-coding 2305394 RPL26P10 ribosomal protein L26 pseudogene 10 19123937 100270886 NG_010202,AL035410,AL390241 RPL26_3_90 pseudo 2305754 RPL26P11 ribosomal protein L26 pseudogene 11 19123937 730070 NG_011107,AL645568 RPL26_5_125 pseudo 2304371 RPL26P12 ribosomal protein L26 pseudogene 12 19123937 391126 NG_011110,AL451074 RPL26_4_113 pseudo 2305486 RPL26P13 ribosomal protein L26 pseudogene 13 19123937 130865 NG_010263,AC012498 RPL26_6_221 pseudo 2305746 RPL26P14 ribosomal protein L26 pseudogene 14 19123937 100133235 NG_010597,AC009480,CH471058 EAX11563 RPL26_7_282 pseudo 2305269 RPL26P15 ribosomal protein L26 pseudogene 15 19123937 100270965 NG_010605,AC017078 RPL26_2_213 pseudo 2305357 RPL26P16 ribosomal protein L26 pseudogene 16 19123937 646966 NG_010289,AC106872 RPL26_3_532 pseudo 2305789 RPL26P17 ribosomal protein L26 pseudogene 17 19123937 100128318 NG_010328,AC104687 RPL26_8_492 pseudo 2305266 RPL26P18 ribosomal protein L26 pseudogene 18 19123937 100270968 NG_010618,AC008676 RPL26_9_632 pseudo 2304746 RPL26P19 ribosomal protein L26 pseudogene 19 19123937 441073 NG_008064,AC022431 RPL26_4_565 pseudo 1346437 RPL26P2 ribosomal protein L26 pseudogene 2 19123937 326297 NG_002549,AL160314 RPL26_14_1341 pseudo 2305001 RPL26P20 ribosomal protein L26 pseudogene 20 19123937 100271191 NG_010455,AL356057 RPL26_10_715 pseudo 2305725 RPL26P21 ribosomal protein L26 pseudogene 21 19123937 646161 NG_010072,AC005019,CH236948 RPL26_11_785 pseudo 2304360 RPL26P22 ribosomal protein L26 pseudogene 22 19123937 643101 NG_011354,AC073264,CH236959 RPL26_5_860 pseudo 2305105 RPL26P23 ribosomal protein L26 pseudogene 23 19123937 100129517 NG_011231,AC005534,CH236954 RPL26_13_865 pseudo 2305504 RPL26P24 ribosomal protein L26 pseudogene 24 19123937 728311 NG_011390,AC099548,CH236959 RPL26_12_861 pseudo 2305268 RPL26P25 ribosomal protein L26 pseudogene 25 19123937 100270966 NG_010610,AC090453 RPL26_6_894 pseudo 2305267 RPL26P26 ribosomal protein L26 pseudogene 26 19123937 100270967 NG_010615,AC027698 RPL26_7_907 pseudo 2304667 RPL26P27 ribosomal protein L26 pseudogene 27 19123937 100271471 NG_010572,AL713888 RPL26_15_1055 pseudo 2305710 RPL26P28 ribosomal protein L26 pseudogene 28 19123937 100130983 NG_010872,AL355303 RPL26_8_1018 pseudo 2305329 RPL26P29 ribosomal protein L26 pseudogene 29 19123937 100131788 NG_008066,AL136233 FLJ10063|RPL26_14_1054 pseudo 1348289 RPL26P3 ribosomal protein L26 pseudogene 3 19123937 326298 NG_002550,AL133162 RPL26_17_1344 pseudo 2305798 RPL26P30 ribosomal protein L26 pseudogene 30 19123937,11181995 653147 NG_010478,AC129929,CH471158 EAX02506 RPL26_10_1113 pseudo 2304669 RPL26P31 ribosomal protein L26 pseudogene 31 19123937 100271469 NG_010564,AP002371 RPL26_11_1166 pseudo 2304988 RPL26P32 ribosomal protein L26 pseudogene 32 19123937,11181995,17903296 400055 NG_006965,AC078817,CH471054 EAW97359,EAW97360 RPL26_12_1262 pseudo 2304402 RPL26P33 ribosomal protein L26 pseudogene 33 19123937 100132547 NG_011012,AC090058 RPL26_16_1236 pseudo 2304668 RPL26P34 ribosomal protein L26 pseudogene 34 19123937 100271470 NG_010568,AL157364 RPL26_13_1302 pseudo 2305872 RPL26P35 ribosomal protein L26 pseudogene 35 19123937 100128115 NG_010596,AC027575 RPL26_15_1614 pseudo 2305375 RPL26P36 ribosomal protein L26 pseudogene 36 19123937 392501 NG_010282,AL121871 RPL26_16_1792 pseudo 2304362 RPL26P37 ribosomal protein L26 pseudogene 37 19123937,12815422,9847074 441533 NG_002815,AC010874 RPL26_17_1822 pseudo 1351741 RPL26P4 ribosomal protein L26 pseudogene 4 19123937 283603 NG_002527,AL355032 RPL26_18_1407 pseudo 2304148 RPL26P5 ribosomal protein L26 pseudogene 5 654386 NG_009883,AC135626 HsT41398 pseudo 2291776 RPL26P6 ribosomal protein L26 pseudogene 6 19123937 100131526 NG_009730,AL353731 RPL26_9_1063 pseudo 2305397 RPL26P7 ribosomal protein L26 pseudogene 7 19123937 100270883 NG_010184,AL691449 RPL26_1_10 pseudo 2305396 RPL26P8 ribosomal protein L26 pseudogene 8 19123937 100270884 NG_010189,AL445686 RPL26_1_22 pseudo 2305395 RPL26P9 ribosomal protein L26 pseudogene 9 19123937 100270885 NG_010196,AL356457 RPL26_2_76 pseudo 735597 RPL27 ribosomal protein L27 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L27E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 8148381,15189156,14567916,15635413,15489334,14702039,12477932,11875025,11790298,11401437,8722009,7581362,7545954,1302024,18809582 6155 NM_000988,AB061851,AC055866,CH471152,AK124148,AK311792,AV712491,BC001700,BC002588,BC007273,BC010026,BC021886,BC098560,CR613829,CR619555,L05094,L19527,L25346 NP_000979,BAB79492,EAW60909,EAW60910,EAW60911,EAW60912,EAW60913,BAG34735,AAH01700,AAH02588,AAH07273,AAH10026,AAH98560,AAC15857,AAA19815,P61353,Q6LCU2,ABM83489,ABM86705 Hs.697561,Hs.514196 60S ribosomal protein L27 protein-coding 1320286 RPL27A ribosomal protein L27a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq] 1580863 10449908,9582194,8722009,11751223,7772601,15189156,14567916,15489334,14702039,12477932,11790298,20935630 6157 NM_000990,AB007178,AB020236,AC091053,AJ400879,CH471064,AI809856,AK125453,AK311767,BC004284,BC005326,BC014919,BC020169,BC066326,BG687024,BQ058236,CR593772,CR622779,U14968 NP_000981,BAA25837,BAA77361,CAC35388,EAW68619,BAG34710,AAH05326,AAH20169,AAH66326,AAA85656,P46776,Q6NZ52,Q9BQQ5 Hs.523463 FLJ43464|MGC10850|MGC17878|MGC87238 60S ribosomal protein L27a protein-coding 1347451 RPL27AP ribosomal protein L27a pseudogene 128481 NG_000965,AL121886 dJ1028D15.2 pseudo 2304372 RPL27AP2 ribosomal protein L27a pseudogene 2 19123937,11181995 391124 NG_006951,AL513302,CH471121 EAW52753 RPL27A_1_106 pseudo 2304878 RPL27AP3 ribosomal protein L27a pseudogene 3 19123937 100271298 NG_011002,AC104076 RPL27A_1_302 pseudo 2304877 RPL27AP4 ribosomal protein L27a pseudogene 4 19123937 100271299 NG_011006,AC114755 RPL27A_2_255 pseudo 2304843 RPL27AP5 ribosomal protein L27a pseudogene 5 19123937 100271300 NG_011014,AC116337 RPL27A_2_577 pseudo 2305705 RPL27AP6 ribosomal protein L27a pseudogene 6 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPL27A gene, there is no convincing evidence of transcription. It is thus being annotated as a pseudogene.[provided by RefSeq] 19123937,11181995 389435 NG_010315,AL590867,CH471051 EAW47709 RPL27A_4_770 pseudo 2304842 RPL27AP7 ribosomal protein L27a pseudogene 7 19123937 100271301 NG_011018,AL356421 RPL27A_3_699 pseudo 2304468 RPL27AP8 ribosomal protein L27a pseudogene 8 19123937 100271605 NG_011272,AL138959 RPL27A_5_1310 pseudo 1352125 RPL27P1 ribosomal protein L27 pseudogene 1 19123937 326299 NG_002551,AC000004,AL049830 RPL27_7_1347 pseudo 2305742 RPL27P10 ribosomal protein L27 pseudogene 10 19123937 202122 NG_010719,AC025181 RPL27_5_551 pseudo 2305517 RPL27P11 ribosomal protein L27 pseudogene 11 19123937 442723 NG_010513,AC009362,CH236950 RPL27_6_845 pseudo 2304841 RPL27P12 ribosomal protein L27 pseudogene 12 19123937 100271302 NG_011023,AC117503 RPL27_4_1293 pseudo 2305617 RPL27P2 ribosomal protein L27 pseudogene 2 19123937 646446 NG_010249,AL445528,CH471121 EAW52776 RPL27_1_105 pseudo 2305545 RPL27P4 ribosomal protein L27 pseudogene 4 19123937 646624 NG_009593,AL138785 RPL27_1_28 pseudo 2305265 RPL27P5 ribosomal protein L27 pseudogene 5 19123937 100270969 NG_010624,AC009501 RPL27_2_231 pseudo 2305113 RPL27P6 ribosomal protein L27 pseudogene 6 19123937 647112 NG_011037,AC096664 RPL27_2_233 pseudo 2305458 RPL27P7 ribosomal protein L27 pseudogene 7 19123937 100129234 NG_011089,AC016691 RPL27_3_270 pseudo 2304411 RPL27P8 ribosomal protein L27 pseudogene 8 19123937 729332 NG_011266,AC007679,CH471063 EAW70376 RPL27_3_316 pseudo 2305264 RPL27P9 ribosomal protein L27 pseudogene 9 19123937 100270970 NG_010630,AC116036 RPL27_4_375 pseudo 733961 RPL28 ribosomal protein L28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 7772601,17353931,15189156,14567916,16344560,15635413,15489334,15342556,15231748,15121898,14702039,12962325,12704204,12477932,11751223,9582194,8889548,8722009,7821789,4022011,16169070,16541025,19834535 6158 NM_000991,NM_001136134,NM_001136135,NM_001136136,NM_001136137,AB007179,AC020922,CH471135,AB209627,AK025866,AK096870,AK125297,AK293736,AK311760,BC010173,BC010182,BC011582,BC015398,BM702093,BP227047,CR457024,CR598142,CR601094,CR606244,CR609404,CR611766,CR615310,D28451,DA092122,DA333143,DA820669,U14969,HI574010 NP_000982,NP_001129606,NP_001129607,NP_001129608,NP_001129609,BAA25838,EAW72374,EAW72375,EAW72376,BAD92864,BAG57160,BAG34703,AAH10173,AAH10182,AAH11582,CAG33305,BAA05817,AAA85657,O60251,P46779,Q59F34,ABM83969,ABM87286,CBX47494 Hs.652114 FLJ43307 60S ribosomal protein L28 protein-coding 1351908 RPL28P1 ribosomal protein L28 pseudogene 1 19123937,11181995 402149 NG_009516,AC026316,CH471052 EAW78507 RPL28_2_436|bcm2489 pseudo 2305263 RPL28P2 ribosomal protein L28 pseudogene 2 19123937 100270971 NG_010634,AC073476 RPL28_1_335 pseudo 2305702 RPL28P3 ribosomal protein L28 pseudogene 3 19123937 391828 NG_010782,AC113398 RPL28_3_609 pseudo 2305887 RPL28P4 ribosomal protein L28 pseudogene 4 19123937 441726 NG_010654,AC066616 RPL28_1_1435 pseudo 2304484 RPL28P5 ribosomal protein L28 pseudogene 5 19123937 729279 NG_010989,AC012618 RPL28_2_1625 pseudo 737093 RPL29 ribosomal protein L29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 8597591,8662616,17353931,15189156,14567916,18980226,17620340,16475173,16169070,15721314,15635413,15489334,12962325,12659638,12477932,11803571,11401437,10833435,10353821,9403071,9371517,8722009,8662617,6468376,20554519 6159 AC115284,NM_000992,CH471055,AK289538,AK311884,BC008926,BC018943,BC070190,BC070481,BC071663,BC071909,CR590726,CR592805,CR605827,U10248,U49083,Z49148 NP_000983,EAW65182,EAW65183,BAF82227,BAG34825,AAH08926,AAH70190,AAH70481,AAH71663,AAH71909,AAC50499,AAC50647,CAA89008,P47914,Q6IPI1,ABM84153 Hs.425125 HIP|HUMRPL29|MGC88589 60S ribosomal protein L29|HP/HS-interacting protein|OTTHUMP00000212475|cell surface heparin-binding protein HIP|heparin/heparan sulfate-binding protein|heparin/heparan sulfate-interacting protein protein-coding 1353029 RPL29P1 ribosomal protein L29 pseudogene 1 19123937 134756 NG_003155,AL390026 RPL29_5_654|dJ336K20B.2 pseudo 2305261 RPL29P10 ribosomal protein L29 pseudogene 10 19123937 100270973 NG_010644,AC115284 RPL29_3_370 pseudo 2305334 RPL29P11 ribosomal protein L29 pseudogene 11 19123937 100131713 AC011816,NG_010671 RPL29_2_362 pseudo 2305856 RPL29P12 ribosomal protein L29 pseudogene 12 19123937 283412 NG_010090,AC010435 RPL29_6_558 pseudo 2305735 RPL29P13 ribosomal protein L29 pseudogene 13 19123937 391738 NG_010310,AC016546 RPL29_5_543 pseudo 2305260 RPL29P14 ribosomal protein L29 pseudogene 14 19123937 100270974 NG_010651,AC021078 RPL29_7_626 pseudo 2304978 RPL29P15 ribosomal protein L29 pseudogene 15 19123937 728820 NG_011265,AC093270 RPL29_4_582 pseudo 2305603 RPL29P16 ribosomal protein L29 pseudogene 16 19123937 100131206 NG_010701,AL109615 RPL29_9_696 pseudo 2304502 RPL29P17 ribosomal protein L29 pseudogene 17 19123937 645224 NG_011367,AL008627 RPL29_8_665 pseudo 2305593 RPL29P18 ribosomal protein L29 pseudogene 18 19123937 644103 NG_010002,AC090142 RPL29_8_938 pseudo 2305631 RPL29P19 ribosomal protein L29 pseudogene 19 19123937 389655 NG_010114,AC041040 RPL29_7_901 pseudo 1348877 RPL29P2 ribosomal protein L29 pseudogene 2 19123937 118432 NR_002778,AC087388,AF085886 Hs.658086 RPL29_10_1510 pseudo 2305340 RPL29P20 ribosomal protein L29 pseudogene 20 19123937 100129332 NG_010275,AL158824 RPL29_10_1009 pseudo 2305873 RPL29P21 ribosomal protein L29 pseudogene 21 19123937 732199 NG_010211,AC107956 RPL29_9_1124 pseudo 2304666 RPL29P22 ribosomal protein L29 pseudogene 22 19123937 100271472 NG_010578,AP001858 RPL29_12_1148 pseudo 2305759 RPL29P23 ribosomal protein L29 pseudogene 23 19123937 646077 NG_011381,AC131263 RPL29_11_1134 pseudo 2305099 RPL29P24 ribosomal protein L29 pseudogene 24 19123937 100129591 NG_010294,AC063943 RPL29_16_1290 pseudo 2304986 RPL29P25 ribosomal protein L29 pseudogene 25 19123937 642493 NG_011380,AC002375 RPL29_15_1277 pseudo 2305811 RPL29P26 ribosomal protein L29 pseudogene 26 19123937 643531 NG_011051,AC018475 RPL29_14_1268 pseudo 2305778 RPL29P27 ribosomal protein L29 pseudogene 27 19123937 100130792 NG_011196,AC084754 RPL29_13_1221 pseudo 2305470 RPL29P28 ribosomal protein L29 pseudogene 28 19123937 646884 NG_011177,AL138706,CH471075 EAX08576 RPL29_17_1307 pseudo 2304665 RPL29P29 ribosomal protein L29 pseudogene 29 19123937 100271474 NG_010587,AL445210 RPL29_18_1328 pseudo 2303320 RPL29P3 ribosomal protein L29 pseudogene 3 19123937 729042 NG_009496,AL079303 RPL29_19_1356 pseudo 2305908 RPL29P30 ribosomal protein L29 pseudogene 30 19123937 729611 NG_010026,AC009269,CH471082 EAW77858 RPL29_20_1448 pseudo 2305635 RPL29P31 ribosomal protein L29 pseudogene 31 19123937 284064 NG_010842,AC087650 RPL29_11_1549 pseudo 2304506 RPL29P32 ribosomal protein L29 pseudogene 32 19123937 390856 NG_009579,AC015524 RPL29_21_1603 pseudo 2305521 RPL29P33 ribosomal protein L29 pseudogene 33 19123937 401911 NG_011283,AC010614,XM_003118491 XP_003118539 RPL29_22_1650 pseudo 1343829 RPL29P4 ribosomal protein L29 pseudogene 4 19123937 387101 NG_006976,AL450405 Q5T1D1 RPL29P3|RPL29_6_745|bA632C17A.1 pseudo 2305619 RPL29P5 ribosomal protein L29 pseudogene 5 19123937 646417 NG_010073,AL096829 RPL29_2_63 pseudo 2304397 RPL29P6 ribosomal protein L29 pseudogene 6 19123937 391019 NG_010556,AL109936 RPL29_1_20 pseudo 2305262 RPL29P7 ribosomal protein L29 pseudogene 7 19123937 100270972 NG_010639,AL135926 RPL29_3_121 pseudo 2305091 RPL29P8 ribosomal protein L29 pseudogene 8 19123937 100131991 NG_010798,AC092162,CH471058 EAX11069 RPL29_1_300 pseudo 2304979 RPL29P9 ribosomal protein L29 pseudogene 9 19123937 647285 NG_010609,AC007690 RPL29_4_447 pseudo 1345939 RPL3 ribosomal protein L3 Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 15461802,14702039,12962325,12477932,11790298,11401437,10684968,10591208,9582194,8921388,8722009,8076819,7576925,1538749,2891103,17220478,17353931,15189156,14567916,16364039,15635413,15592455,15489334,18029348,20100605 6122 BC022790,BC002408,BC004323,BC006483,BC008003,BC008492,BC012146,BC012786,BC013674,BC013861,BC014017,BC015032,BC015767,AY320405,NM_001033853,AB007166,AJ238852,AL022326,CH471095,NM_000967,AB062291,AK092695,AK297711,AK315693,AL832757,BC033296,BC036582,BC063662,BC071666,BC088373,BC107711,BC127794,BU584440,CR456566,CR590654,CR590820,CR592120,CR594097,CR595102,CR595116,CR595509,CR595969,CR596329,CR596389,CR596667,CR596802,CR597097,CR597485,CR597498,CR597737,CR597745,CR599095,CR601189,CR601581,CR601663,CR602004,CR604030,CR605015,CR605080,CR605531,CR607164,CR607725,CR608723,CR608886,CR609557,CR610441,CR612126,CR612782,CR612896,CR613925,CR615390,CR615684,CR616722,CR616770,CR617147,CR617467,CR619057,CR619471,CR619632,CR619715,CR619779,CR620145,CR621177,CR621265,CR621566,CR622788,CR623564,CR623791,CR624992,CR625263,CR625393,CR625496,CR625577,CR626261,CR626451,CR626505,L22453,M90054,X73460 AAH22790,AAP73807,AAH02408,AAH04323,AAH06483,AAH08003,AAH08492,AAH12146,AAH12786,AAH13674,AAH14017,AAH15032,AAH15767,NP_000958,NP_001029025,BAA25828,CAB76201,CAA18450,EAW60310,EAW60311,EAW60312,EAW60313,EAW60314,EAW60315,EAW60316,EAW60317,EAW60318,EAW60319,EAW60320,BAB93474,BAG52598,BAG60068,BAG38056,AAH36582,AAH63662,AAH88373,AAI07712,CAG30452,AAA91344,CAA51839,P39023,Q49AJ9,Q7Z5Z5,Q8TBW1,Q96QL0,Q9BT63,Q9NY85,CAK54597,CAK54896,AAA60291 Hs.119598 MGC104284|TARBP-B 60S ribosomal protein L3|HIV-1 TAR RNA-binding protein B|OTTHUMP00000199075|OTTHUMP00000199076|ribosomal protein L3, isoform a protein-coding 731558 RPL30 ribosomal protein L30 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1577483,15189156,18029348,14567916,16968546,16964243,15489334,14743216,12477932,11875025,9582194,8722009,7821789,20554519 6156 NM_000989,AB070559,AP003352,CH471060,AK308890,AK312102,AL049968,BC032700,BC095426,CR594202,D28438,L05095,X79238 NP_000980,BAB79491,EAW91769,EAW91770,EAW91771,BAG35038,AAH32700,AAH95426,BAA05804,AAC15858,CAA55820,P62888 Hs.400295 60S ribosomal protein L30 protein-coding 2305259 RPL30P1 ribosomal protein L30 pseudogene 1 19123937 100270975 NG_010656,AL121983 RPL30_1_127 pseudo 2305252 RPL30P10 ribosomal protein L30 pseudogene 10 19123937 100270982 NG_010695,AC068075 RPL30_5_906 pseudo 2304840 RPL30P11 ribosomal protein L30 pseudogene 11 19123937 100271303 NG_011030,AC007782 RPL30_6_1213 pseudo 2304839 RPL30P12 ribosomal protein L30 pseudogene 12 19123937 100271304 NG_011034,AC007695 RPL30_6_1274 pseudo 2304838 RPL30P13 ribosomal protein L30 pseudogene 13 19123937 100271305 NG_011039,AC117403 RPL30_7_1228 pseudo 2304733 RPL30P14 ribosomal protein L30 pseudogene 14 19123937 100129867 NG_010405,AC006203 RPL30_8_1609 pseudo 2305000 RPL30P15 ribosomal protein L30 pseudogene 15 19123937 100271192 NG_010459,AC079383 RPL30_7_1765 pseudo 2305258 RPL30P2 ribosomal protein L30 pseudogene 2 19123937 100270976 NG_010662,AC079790 RPL30_1_286 pseudo 2305257 RPL30P3 ribosomal protein L30 pseudogene 3 19123937 100270977 NG_010666,AC093904 RPL30_2_193 pseudo 2305601 RPL30P4 ribosomal protein L30 pseudogene 4 19123937 100131230 NG_009720,AC138972 RPL30_3_359 pseudo 2305256 RPL30P5 ribosomal protein L30 pseudogene 5 19123937 100270978 NG_010673,AC096768 RPL30_2_497 pseudo 2305254 RPL30P6 ribosomal protein L30 pseudogene 6 19123937 100270980 NG_010684,AC093832 RPL30_4_501 pseudo 2305255 RPL30P7 ribosomal protein L30 pseudogene 7 19123937 100270979 NG_010677,AC092336 RPL30_3_541 pseudo 2304965 RPL30P8 ribosomal protein L30 pseudogene 8 19123937 100132053 NG_011102,AL132660,AL671966 RPL30_4_741 pseudo 2305253 RPL30P9 ribosomal protein L30 pseudogene 9 19123937 100270981 NG_010689,AC100802 RPL30_5_882 pseudo 734080 RPL31 ribosomal protein L31 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 2780320,17353931,15189156,14567916,17081983,16344560,16189514,15815621,15592455,15489334,15146197,12962325,12477932,11875025,11790298,9582194,8889548,8722009,7821789,2597680,11746496 6160 NM_001098577,NM_001099693,NM_000993,AB007180,AB061830,AC016738,CH471127,AK311775,BC001663,BC017343,BC070210,BC070373,BE564858,BG031488,BG223187,CD108396,CD247800,CF124259,CN269912,CN269915,CR600452,CR622056,D28386,DA869102,X15940,X69181,AK297483 NP_001092047,NP_001093163,NP_000984,BAA25839,BAB79468,AAY14823,EAX01826,EAX01827,EAX01828,EAX01829,BAG34718,AAH17343,AAH70210,AAH70373,BAA05752,CAA34066,CAA48925,P62899,Q6IRZ0,Q76N53,ABM83535,ABM86775,BAH12588 Hs.469473 MGC88191 60S ribosomal protein L31|OTTHUMP00000202933|OTTHUMP00000202940|OTTHUMP00000202941|OTTHUMP00000202942|OTTHUMP00000202943 protein-coding 1347165 RPL31P1 ribosomal protein L31 pseudogene 1 19123937,10830953 54027 NG_000908,AP001050,AP001751 RPL31P|RPL31_35_1734 pseudo 1603146 RPL31P10 ribosomal protein L31 pseudogene 10 19123937 390283 NG_009396,AC005840 RPL31_15_1198 pseudo 2305729 RPL31P11 ribosomal protein L31 pseudogene 11 19123937,12477932 641311 NR_002595,AL359541,AL451067,BC052594 Hs.625293 RPL31_1_108 pseudo 2305393 RPL31P12 ribosomal protein L31 pseudogene 12 19123937 100270887 NG_010207,AL512292 RPL31_1_62 pseudo 2305251 RPL31P13 ribosomal protein L31 pseudogene 13 19123937 100270983 NG_010703,AL592402 RPL31_2_164 pseudo 2305341 RPL31P14 ribosomal protein L31 pseudogene 14 19123937 100129310 NG_010159,AC007563 RPL31_4_324 pseudo 2305250 RPL31P15 ribosomal protein L31 pseudogene 15 19123937 100270984 NG_010707,AC105396 RPL31_3_303 pseudo 2305222 RPL31P16 ribosomal protein L31 pseudogene 16 19123937 100129418 NG_010720,AC007390 RPL31_3_207 pseudo 2305578 RPL31P17 ribosomal protein L31 pseudogene 17 19123937 653773 NG_011063,AC016712 RPL31_4_330 pseudo 2304513 RPL31P18 ribosomal protein L31 pseudogene 18 19123937 285260 NG_010408,AC104306 RPL31_7_358 pseudo 2305249 RPL31P19 ribosomal protein L31 pseudogene 19 19123937 100270985 NG_010711,AC140076 RPL31_5_346 pseudo 1345226 RPL31P2 ribosomal protein L31 pseudogene 2 19123937 140753 NG_000996,AL050349 RPL31_25_1695|dJ553F4.5 pseudo 2305248 RPL31P20 ribosomal protein L31 pseudogene 20 19123937 100270986 NG_010717,AC112217 RPL31_6_349 pseudo 2305246 RPL31P21 ribosomal protein L31 pseudogene 21 19123937 100270988 NG_010728,AC022215 RPL31_8_410 pseudo 2305245 RPL31P22 ribosomal protein L31 pseudogene 22 19123937 100270989 NG_010734,AC090018 RPL31_9_449 pseudo 2305815 RPL31P23 ribosomal protein L31 pseudogene 23 19123937 391581 NG_009581,AC092991 RPL31_5_407 pseudo 2304998 RPL31P24 ribosomal protein L31 pseudogene 24 19123937 100271194 NG_010468,AC097484 RPL31_11_499 pseudo 2305247 RPL31P25 ribosomal protein L31 pseudogene 25 19123937 100270987 NG_010723,AC096576 RPL31_6_464 pseudo 2305866 RPL31P26 ribosomal protein L31 pseudogene 26 19123937 100130537 NG_011206,AC010683 RPL31_7_527 pseudo 2304995 RPL31P27 ribosomal protein L31 pseudogene 27 19123937 100271198 NG_010490,AL136116 RPL31_15_765 pseudo 2305697 RPL31P28 ribosomal protein L31 pseudogene 28 19123937 442217 NG_010544,AL034374 RPL31_12_703 pseudo 2305244 RPL31P29 ribosomal protein L31 pseudogene 29 19123937 100270990 NG_010740,AL591419 RPL31_9_773 pseudo 1353886 RPL31P3 ribosomal protein L31 pseudogene 3 19123937 140718 NG_000989,AL031650 RPL31_24_1693|dJ1018D12.4 pseudo 2304495 RPL31P30 ribosomal protein L31 pseudogene 30 19123937 729203 NG_011371,AC107081 RPL31_2_226 pseudo 2305718 RPL31P31 ribosomal protein L31 pseudogene 31 19123937 727792 NG_011387,AC016687 RPL31_10_468 pseudo 2305689 RPL31P32 ribosomal protein L31 pseudogene 32 19123937 643851 NG_011350,AL122016 RPL31_14_719 pseudo 2305696 RPL31P33 ribosomal protein L31 pseudogene 33 19123937 442218 NG_011369,AL591034 RPL31_13_704 pseudo 2304999 RPL31P34 ribosomal protein L31 pseudogene 34 19123937 100271193 NG_010464,AC072052,CH236963 RPL31_10_781 pseudo 2304994 RPL31P35 ribosomal protein L31 pseudogene 35 19123937 100271199 NG_010493,AC011228,CH236957 RPL31_16_810 pseudo 2304963 RPL31P36 ribosomal protein L31 pseudogene 36 19123937 100271200 NG_010497,AC008264,CH236950 RPL31_19_846 pseudo 2305505 RPL31P37 ribosomal protein L31 pseudogene 37 19123937,9847074 646787 NG_009411,AC015983,CH236947 RPL31_18_839 pseudo 2305662 RPL31P38 ribosomal protein L31 pseudogene 38 19123937 442326 NG_011108,AC073335 RPL31_17_813 pseudo 2305594 RPL31P39 ribosomal protein L31 pseudogene 39 19123937 641790 NG_009415,AC010099,CH236947 RPL31_11_842 pseudo 1602626 RPL31P4 ribosomal protein L31 pseudogene 4 19123937 729646 NG_009376,AL049873 RPL31_28_1375 pseudo 2304997 RPL31P40 ribosomal protein L31 pseudogene 40 19123937 100271196 NG_010480,AC103783 RPL31_12_911 pseudo 2304962 RPL31P41 ribosomal protein L31 pseudogene 41 19123937 100271201 NG_010501,AC104343 RPL31_20_909 pseudo 2304996 RPL31P42 ribosomal protein L31 pseudogene 42 19123937 100271197 NG_010485,AL162725 RPL31_13_966 pseudo 2305522 RPL31P43 ribosomal protein L31 pseudogene 43 19123937 392382 NG_010985,AC068050 RPL31_21_1004 pseudo 2305362 RPL31P44 ribosomal protein L31 pseudogene 44 19123937 644522 NG_010889,AC009986 RPL31_14_1046 pseudo 2304412 RPL31P45 ribosomal protein L31 pseudogene 45 19123937,11181995 729308 NG_011137,AL158211,CH471072 EAW86156,EAW86157 RPL31_22_1025 pseudo 2304660 RPL31P46 ribosomal protein L31 pseudogene 46 19123937 100271479 NG_010617,AP001992 RPL31_23_1157 pseudo 2304658 RPL31P47 ribosomal protein L31 pseudogene 47 19123937 100271481 NG_010626,AP000926 RPL31_24_1186 pseudo 2305912 RPL31P48 ribosomal protein L31 pseudogene 48 19123937 645654 NG_011352,AC087879 RPL31_25_1257 pseudo 2304732 RPL31P49 ribosomal protein L31 pseudogene 49 19123937 100129882 NG_010470,AC002350 RPL31_26_1276 pseudo 2303836 RPL31P5 ribosomal protein L31 pseudogene 5 19123937 100129928 NG_009395,AL136038 RPL31_29_1379 pseudo 2305740 RPL31P50 ribosomal protein L31 pseudogene 50 19123937,11181995 341356 NG_006023,AC022080,CH471116 EAW88551 RPL31_16_1224 pseudo 2304664 RPL31P51 ribosomal protein L31 pseudogene 51 19123937 100271475 NG_010594,AC073594 RPL31_17_1239 pseudo 2304663 RPL31P52 ribosomal protein L31 pseudogene 52 19123937 100271476 NG_010601,AL021546 RPL31_18_1289 pseudo 2304662 RPL31P53 ribosomal protein L31 pseudogene 53 19123937 100271477 NG_010607,AL390965 RPL31_19_1315 pseudo 2304656 RPL31P54 ribosomal protein L31 pseudogene 54 19123937 100271483 NG_010636,AL391989 RPL31_27_1326 pseudo 2305834 RPL31P55 ribosomal protein L31 pseudogene 55 19123937 100128250 NG_011296,AC087477 RPL31_31_1463 pseudo 2304661 RPL31P56 ribosomal protein L31 pseudogene 56 19123937 100271478 NG_010612,AC109462 RPL31_20_1484 pseudo 2305803 RPL31P57 ribosomal protein L31 pseudogene 57 19123937,11181995 645993 NG_010546,AC016489,CH471109 EAW94209 RPL31_21_1570 pseudo 2304655 RPL31P58 ribosomal protein L31 pseudogene 58 19123937 100271485 NG_010646,AC010761 RPL31_32_1533 pseudo 2304659 RPL31P59 ribosomal protein L31 pseudogene 59 19123937 100271480 NG_010620,AP001025 RPL31_23_1580 pseudo 2303846 RPL31P6 ribosomal protein L31 pseudogene 6 19123937 654387 NG_009390,AC091544 HsT19508|RPL31_30_1462 pseudo 2304654 RPL31P60 ribosomal protein L31 pseudogene 60 19123937 100271486 NG_010653,AC011449 RPL31_33_1645 pseudo 2304653 RPL31P61 ribosomal protein L31 pseudogene 61 19123937 100271487 NG_010658,AC008733 RPL31_34_1652 pseudo 2304657 RPL31P62 ribosomal protein L31 pseudogene 62 19123937 100271482 NG_010632,AC006946 RPL31_26_1736 pseudo 2304761 RPL31P63 ribosomal protein L31 pseudogene 63 19123937 100271392 NG_010170,AL732324 RPL31_36_1782 pseudo 2303845 RPL31P7 ribosomal protein L31 pseudogene 7 19123937 654391 NG_009391,AC109327,AC133012 RPL31_22_1578 pseudo 1347993 RPL31P8 ribosomal protein L31 pseudogene 8 19123937 253013 NG_005654,AC109486 RPL31_8_567 pseudo 2303340 RPL31P9 ribosomal protein L31 pseudogene 9 619464 NG_009519,AC113195 pseudo 1347014 RPL32 ribosomal protein L32 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq] 17353931,15189156,14567916,17054774,15498874,15489334,12962325,12477932,11875025,10737800,9582194,9284913,8889548,8722009,8012384,7821789,3866218 6161 NM_000994,NM_001007074,AB061831,AC034198,CH471055,Z56502,AK124029,AK311909,BC011514,BC070209,BF960792,BQ068496,CA436299,CF124158,CR591453,CR596681,CR596797,CR596982,CR600427,CR600919,CR604700,CR605770,CR608027,CR614770,CR616653,CR620958,CR625712,D28385,NM_001007073,X03342 BAA05751,NP_001007074,NP_000985,NP_001007075,BAB79469,EAW64144,EAW64145,BAG34850,AAH11514,AAH70209,CAA27048,P62910,ABM82499,ABM85693 Hs.265174 PP9932 60S ribosomal protein L32|OTTHUMP00000207904|OTTHUMP00000207906|OTTHUMP00000207907 protein-coding 1349837 RPL32P1 ribosomal protein L32 pseudogene 1 19123937,6088068,3866218,2987832 6163 X02228,NG_000869,AL645931,AL662824,AL805913,K03014,BX120009,CR759795,CR759904,CR762479,CR847849 RPL32-L|RPL32P|RPL32_6_681 pseudo 2305814 RPL32P10 ribosomal protein L32 pseudogene 10 19123937 391595 NG_010893,AC108734 RPL32_3_439 pseudo 2305346 RPL32P11 ribosomal protein L32 pseudogene 11 19123937 728572 NG_011306,AC092798 RPL32_2_350 pseudo 2304405 RPL32P12 ribosomal protein L32 pseudogene 12 19123937 731741 NG_010487,AC006445 RPL32_4_459 pseudo 2305241 RPL32P13 ribosomal protein L32 pseudogene 13 19123937 100270993 NG_010759,AC017007 RPL32_4_510 pseudo 2305240 RPL32P14 ribosomal protein L32 pseudogene 14 19123937 100270994 NG_010763,AC106744 RPL32_5_546 pseudo 2304731 RPL32P15 ribosomal protein L32 pseudogene 15 19123937 100132265 NG_010882,AL672212 RPL32_5_690 pseudo 2305727 RPL32P16 ribosomal protein L32 pseudogene 16 19123937 646104 NG_006650,AL133260 RPL32_7_768 pseudo 2304636 RPL32P17 ribosomal protein L32 pseudogene 17 19123937,12690205 402716 NG_010146,AC005229,AACC02000041 EAL24419 RPL32_9_862 pseudo 2304864 RPL32P18 ribosomal protein L32 pseudogene 18 19123937,11181995 644907 NG_010235,AC004453,CH236960,CH471128 EAW61102 RPL32_8_807 pseudo 2305618 RPL32P19 ribosomal protein L32 pseudogene 19 19123937,11181995 646433 NG_006954,AC018437,CH471080 EAW63835 RPL32_10_878 pseudo 2303444 RPL32P2 ribosomal protein L32 pseudogene 2 19123937 654388 NG_009533,AC079203 HsT20607|RPL32_9_1423 pseudo 2305556 RPL32P20 ribosomal protein L32 pseudogene 20 19123937 392271 NG_010427,AF192304 RPL32_12_951 pseudo 2305902 RPL32P21 ribosomal protein L32 pseudogene 21 19123937 100128004 NG_009980,AL161781 RPL32_13_977 pseudo 2304859 RPL32P22 ribosomal protein L32 pseudogene 22 19123937 644996 NG_010687,AL359073 RPL32_14_1010 pseudo 2305624 RPL32P23 ribosomal protein L32 pseudogene 23 19123937 644020 NG_010936,AL157395 RPL32_6_1020 pseudo 2304651 RPL32P24 ribosomal protein L32 pseudogene 24 19123937 100271489 NG_010668,AP000873 RPL32_15_1162 pseudo 2304650 RPL32P25 ribosomal protein L32 pseudogene 25 19123937 100271490 NG_010675,AP000870 RPL32_16_1167 pseudo 2304649 RPL32P26 ribosomal protein L32 pseudogene 26 19123937 100271491 NG_010679,AC048341 RPL32_17_1245 pseudo 2304837 RPL32P27 ribosomal protein L32 pseudogene 27 19123937 100271306 NG_011044,AC073610 RPL32_7_1234 pseudo 2305772 RPL32P28 ribosomal protein L32 pseudogene 28 19123937 100133193 NG_010395,AL160151 RPL32_18_1316 pseudo 2304492 RPL32P29 ribosomal protein L32 pseudogene 29 19123937 729215 NG_010659,AL139099 RPL32_8_1362 pseudo 1604531 RPL32P3 ribosomal protein L32 pseudogene 3 14702039,12477932 132241 AL449212,NR_003111,CS300717,AK093477,AK096589,BC014110,BC015389,BC042157,BC053996,BX641154 CAK32381 Hs.477537,Hs.652423 pseudo 2304648 RPL32P30 ribosomal protein L32 pseudogene 30 19123937 100271492 AC012100,NG_010686 RPL32_19_1431 pseudo 2304515 RPL32P31 ribosomal protein L32 pseudogene 31 19123937 201259 AC109327,NG_010233 RPL32_21_1577 pseudo 2304652 RPL32P32 ribosomal protein L32 pseudogene 32 19123937 100271488 NG_010664,AC104763 RPL32_10_1563 pseudo 2304647 RPL32P33 ribosomal protein L32 pseudogene 33 19123937 100271493 NG_010691,AC080037 RPL32_20_1573 pseudo 2305774 RPL32P34 ribosomal protein L32 pseudogene 34 19123937 100133162 NG_010230,AC005790 RPL32_22_1617 pseudo 2304760 RPL32P35 ribosomal protein L32 pseudogene 35 19123937 100271393 NG_010177,Z72001 RPL32_11_1810 pseudo 2305481 RPL32P36 ribosomal protein L32 pseudogene 36 19123937,11181995 392447 NG_011329,AC092268,CH471141 EAW59413,EAW59414 RPL32_24_1772 pseudo 1344513 RPL32P4 ribosomal protein L32 pseudogene 4 19123937 100131339 NG_009522,AC023194 RPL32L|RPL32_11_924 pseudo 1345579 RPL32P5 ribosomal protein L32 pseudogene 5 19123937,10591208 23754 NG_002456,AC005300 RPL32L2|RPL32_23_1737 pseudo 2305392 RPL32P6 ribosomal protein L32 pseudogene 6 19123937 100270888 NG_010215,AL356390 RPL32_1_26 pseudo 2305816 RPL32P7 ribosomal protein L32 pseudogene 7 19123937 391560 NG_010710,AC084198 RPL32_1_390 pseudo 2305243 RPL32P8 ribosomal protein L32 pseudogene 8 19123937 100270991 NG_010745,AC108751 RPL32_2_419 pseudo 2305242 RPL32P9 ribosomal protein L32 pseudogene 9 19123937 100270992 NG_010752,AC117386 RPL32_3_420 pseudo 1319729 RPL34 ribosomal protein L34 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Transcript variants derived from alternative splicing, alternative transcription initiation sites, and/or alternative polyadenylation exist; these variants encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 7490091,17353931,15189156,14567916,15635413,15489334,14702039,12962325,12477932,11875025,9582194,8889548,8722009,7821789,20332099,20877624 6164 NM_000995,NM_033625,AB007181,AB061832,AC084209,AC107071,CH471057,CS185554,AF147334,AK055920,AY762981,BC001773,BC070208,BC106009,BM971961,BU588998,CR542232,CR542242,CR592421,D28420,L38941 NP_000986,NP_296374,BAA25840,BAB79470,EAX06229,EAX06230,EAX06231,EAX06232,CAJ42735,AAV88043,AAH01773,AAH70208,AAI06010,CAG47028,CAG47038,BAA05786,AAC41916,P49207,Q5MK14,ABM83428,ABM86641 Hs.438227 MGC111005 60S ribosomal protein L34|OTTHUMP00000219602|OTTHUMP00000219603|leukemia-associated protein protein-coding 1349591 RPL34P1 ribosomal protein L34 pseudogene 1 19123937 26514 NG_000895,AL021397 RPL34_3_118|dJ69E11.2 pseudo 2305209 RPL34P10 ribosomal protein L34 pseudogene 10 19123937 100271004 NG_010819,AC133473 RPL34_8_445 pseudo 2304382 RPL34P11 ribosomal protein L34 pseudogene 11 19123937 100130286 NG_011235,AC093142 RPL34_6_354 pseudo 2305238 RPL34P12 ribosomal protein L34 pseudogene 12 19123937 100270996 NG_010777,AC021205 RPL34_2_514 pseudo 2305237 RPL34P13 ribosomal protein L34 pseudogene 13 19123937 100270997 NG_010783,AC010301 RPL34_3_616 pseudo 2304618 RPL34P14 ribosomal protein L34 pseudogene 14 19123937 100129934 NG_010743,AL583834 RPL34_9_693 pseudo 2305213 RPL34P15 ribosomal protein L34 pseudogene 15 19123937 100271000 NG_010799,AL590286 RPL34_5_775 pseudo 2305743 RPL34P16 ribosomal protein L34 pseudogene 16 19123937 100133294 NG_009837,AL136968 RPL34_4_651 pseudo 2305212 RPL34P17 ribosomal protein L34 pseudogene 17 19123937 100271001 NG_010806,AC103831 RPL34_6_902 pseudo 2305210 RPL34P18 ribosomal protein L34 pseudogene 18 19123937 100271003 NG_010815,AC105081 RPL34_7_926 pseudo 2304646 RPL34P19 ribosomal protein L34 pseudogene 19 19123937 100271494 NG_010697,AL161932 RPL34_10_1028 pseudo 1352830 RPL34P2 ribosomal protein L34 pseudogene 2 19123937 26513 NG_000894,AL049714 RPL34_11_1133 pseudo 2304836 RPL34P20 ribosomal protein L34 pseudogene 20 19123937 100271308 NG_011055,AL355490 RPL34_8_1088 pseudo 2304645 RPL34P21 ribosomal protein L34 pseudogene 21 19123937 100271495 NG_010705,AP003041 RPL34_10_1189 pseudo 2304644 RPL34P22 ribosomal protein L34 pseudogene 22 19123937 100271498 AC104010,NG_010718 RPL34_12_1141 pseudo 2304643 RPL34P23 ribosomal protein L34 pseudogene 23 19123937 100271499 NG_010725,AP000926 RPL34_13_1184 pseudo 2304835 RPL34P24 ribosomal protein L34 pseudogene 24 19123937 100271309 NG_011059,AC126389 RPL34_9_1123 pseudo 2304601 RPL34P25 ribosomal protein L34 pseudogene 25 19123937 100271501 NG_010736,AC091805 RPL34_14_1217 pseudo 2305783 RPL34P26 ribosomal protein L34 pseudogene 26 19123937 100130718 NG_010834,AL138696 RPL34_12_1312 pseudo 2305613 RPL34P27 ribosomal protein L34 pseudogene 27 19123937 651249 NG_011246,AL354798 RPL34_11_1303 pseudo 2304602 RPL34P28 ribosomal protein L34 pseudogene 28 19123937 100271500 NG_010730,AL158801 RPL34_13_1367 pseudo 2304599 RPL34P29 ribosomal protein L34 pseudogene 29 19123937 100271503 NG_010747,AC007603 RPL34_15_1483 pseudo 1343494 RPL34P3 ribosomal protein L34 pseudogene 3 10830953 54026 NG_000907,AF051934 pseudo 2304597 RPL34P30 ribosomal protein L34 pseudogene 30 19123937 100271505 NG_010760,AC100793 RPL34_17_1547 pseudo 2304357 RPL34P31 ribosomal protein L34 pseudogene 31 19123937 729536 NG_010995,AC026254 RPL34_16_1528 pseudo 2304600 RPL34P32 ribosomal protein L34 pseudogene 32 19123937 100271502 NG_010742,AC103987 RPL34_14_1586 pseudo 2305755 RPL34P33 ribosomal protein L34 pseudogene 33 19123937 730061 NG_011383,AC024563 RPL34_18_1640 pseudo 2304421 RPL34P34 ribosomal protein L34 pseudogene 34 19123937 342994 NG_011088,AC011494,CH471106 EAW84920 RPL34_15_1639 pseudo 2304598 RPL34P35 ribosomal protein L34 pseudogene 35 19123937 100271504 NG_010754,AC000081 RPL34_16_1738 pseudo 2305391 RPL34P4 ribosomal protein L34 pseudogene 4 19123937 100270889 NG_010221,AL451139 RPL34_1_24 pseudo 2305239 RPL34P5 ribosomal protein L34 pseudogene 5 19123937 100270995 NG_010769,AL358472 RPL34_2_101 pseudo 2305236 RPL34P6 ribosomal protein L34 pseudogene 6 19123937 100270998 NG_010790,AC099756 RPL34_4_146 pseudo 2304352 RPL34P7 ribosomal protein L34 pseudogene 7 19123937 100127995 NG_011301,AL592045 RPL34_1_168 pseudo 2305235 RPL34P8 ribosomal protein L34 pseudogene 8 19123937 100270999 NG_010794,AC093166 RPL34_5_265 pseudo 2305211 RPL34P9 ribosomal protein L34 pseudogene 9 19123937 100271002 NG_010812,AC126182 RPL34_7_396 pseudo 1353068 RPL35 ribosomal protein L35 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 2891103,17353931,15189156,18029348,14567916,18523488,16341674,15635413,15489334,15164053,12962325,12477932,11401437,8722009,8076819,7821789,20562859 11224 NM_007209,AB046409,AL354928,CH471090,AK291072,BC000348,BC010919,BC071915,BC094828,BM854016,CR456877,CR996819,D17026,D17195,D28448,U12465,FB342981,FB711104 NP_009140,BAB21255,CAI39638,CAI39639,EAW87600,EAW87601,EAW87602,BAF83761,AAH00348,AAH10919,AAH71915,AAH94828,CAG33158,BAA05814,AAA51648,P42766,ABM82289,ABM85469,CAR81491,CAS91507 Hs.182825 60S ribosomal protein L35 protein-coding 733438 RPL35A ribosomal protein L35a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Transcript variants utilizing alternative transcription initiation sites and alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 20877624,17353931,18697920,15189156,14567916,18535205,15635413,15489334,12704204,12477932,12175552,11875025,10880769,9582194,8786106,8722009,7821789,2388839,1577483,16169070,19773262,20378560,14702039 6165 AB007182,AC135893,CH471252,X94619,AB055768,AK026542,AY871273,BC001037,BC010949,BC017093,BC061890,CR621442,X52966,NM_000996,NG_011743,AK055653 NP_000987,BAA25841,EAW92248,EAW92249,EAW92250,CAA64325,BAB62862,AAX11429,AAH01037,AAH10949,AAH17093,AAH61890,CAA37138,P18077 Hs.529631,Hs.657338 DBA5 60S ribosomal protein L35a|OTTHUMP00000207886|cell growth-inhibiting gene 33 protein protein-coding 1349107 RPL35AP ribosomal protein L35a pseudogene 19123937 140716 NG_000987,AL353777 RPL35A_15_1710|bA456N23.1 pseudo 2304831 RPL35AP10 ribosomal protein L35a pseudogene 10 19123937 100271313 NG_011082,AC079594 RPL35A_3_429 pseudo 2304830 RPL35AP11 ribosomal protein L35a pseudogene 11 19123937 100271314 NG_011086,AC109925 RPL35A_4_500 pseudo 2304828 RPL35AP12 ribosomal protein L35a pseudogene 12 19123937 100271316 NG_011094,AC115113 RPL35A_5_531 pseudo 2305095 RPL35AP13 ribosomal protein L35a pseudogene 13 19123937 100131945 NG_010547,AC008953 RPL35A_5_575 pseudo 2304829 RPL35AP14 ribosomal protein L35a pseudogene 14 19123937 100271315 NG_011091,AC114982 RPL35A_4_569 pseudo 2304827 RPL35AP15 ribosomal protein L35a pseudogene 15 19123937 100271317 NG_011098,AC093295 RPL35A_6_605 pseudo 2304826 RPL35AP16 ribosomal protein L35a pseudogene 16 19123937 100271318 NG_011105,AC091959 RPL35A_6_624 pseudo 2304825 RPL35AP17 ribosomal protein L35a pseudogene 17 19123937 100271319 NG_011112,AC091959 RPL35A_7_625 pseudo 2304824 RPL35AP18 ribosomal protein L35a pseudogene 18 19123937 100271321 NG_011120,AL133475 RPL35A_8_717 pseudo 2304823 RPL35AP19 ribosomal protein L35a pseudogene 19 19123937 100271322 NG_011123,AC013545 RPL35A_8_947 pseudo 1606049 RPL35AP2 ribosomal protein L35a pseudogene 2 19123937 652983 NG_005490,AL353662 RPL35A_10_973|bA571F15.2 pseudo 2305832 RPL35AP20 ribosomal protein L35a pseudogene 20 19123937 100128277 NG_010099,AL354707 RPL35A_9_959 pseudo 2304596 RPL35AP21 ribosomal protein L35a pseudogene 21 19123937 100271506 NG_010765,AL392106 RPL35A_11_983 pseudo 2304595 RPL35AP22 ribosomal protein L35a pseudogene 22 19123937 100271507 NG_010771,AL161630 RPL35A_9_1011 pseudo 2304449 RPL35AP23 ribosomal protein L35a pseudogene 23 19123937 100271629 NG_010037,AL450342 RPL35A_10_1045 pseudo 2304447 RPL35AP24 ribosomal protein L35a pseudogene 24 19123937 100271631 NG_010055,AL731572 RPL35A_12_1042 pseudo 2304445 RPL35AP25 ribosomal protein L35a pseudogene 25 19123937 100271633 NG_010067,AL672187 RPL35A_13_1043 pseudo 2304448 RPL35AP26 ribosomal protein L35a pseudogene 26 19123937 100271630 NG_010048,AP001318 RPL35A_11_1187 pseudo 2304443 RPL35AP27 ribosomal protein L35a pseudogene 27 19123937 100271635 NG_010083,AC087588 RPL35A_14_1227 pseudo 2304441 RPL35AP28 ribosomal protein L35a pseudogene 28 19123937 100271637 NG_010097,AC131157 RPL35A_15_1235 pseudo 2304440 RPL35AP29 ribosomal protein L35a pseudogene 29 19123937 100271638 NG_010103,AC087884 RPL35A_16_1237 pseudo 1343108 RPL35AP3 ribosomal protein L35a pseudogene 3 19123937 387074 NG_009761,AL365223 CAI15713 RPL35A_7_760|bA55K22.4 pseudo 2304439 RPL35AP30 ribosomal protein L35a pseudogene 30 19123937 100271639 NG_010110,AC004815 RPL35A_17_1286 pseudo 2304438 RPL35AP31 ribosomal protein L35a pseudogene 31 19123937 100271640 NG_010117,AL139186 RPL35A_18_1321 pseudo 2304446 RPL35AP32 ribosomal protein L35a pseudogene 32 19123937 100271632 NG_010061,AC011276 RPL35A_12_1446 pseudo 2304444 RPL35AP33 ribosomal protein L35a pseudogene 33 19123937 100271634 NG_010077,AC099521 RPL35A_13_1491 pseudo 2304437 RPL35AP34 ribosomal protein L35a pseudogene 34 19123937 100271641 NG_010123,AC092324 RPL35A_19_1474 pseudo 2304442 RPL35AP35 ribosomal protein L35a pseudogene 35 19123937 100271636 NG_010088,AC005412 RPL35A_14_1534 pseudo 2305784 RPL35AP36 ribosomal protein L35a pseudogene 36 19123937 100128393 NG_010715,AL035398 RPL35A_20_1756 pseudo 2305607 RPL35AP37 ribosomal protein L35a pseudogene 37 19123937 100128807 NG_010212,AC112498 RPL35A_16_1766 pseudo 2303692 RPL35AP4 ribosomal protein L35a pseudogene 4 100048922 BX088650,BX248088,CR759793,NG_009762,AL662799 BPG294E21.7 pseudo 2304846 RPL35AP5 ribosomal protein L35a pseudogene 5 19123937 100132122 NG_010132,AC114402 RPL35A_2_150 pseudo 2304832 RPL35AP6 ribosomal protein L35a pseudogene 6 19123937 100271312 NG_011079,AL591848 RPL35A_3_191 pseudo 2305566 RPL35AP7 ribosomal protein L35a pseudogene 7 19123937 100128984 NG_011118,AL390119 RPL35A_1_109 pseudo 2304834 RPL35AP8 ribosomal protein L35a pseudogene 8 19123937 100271310 NG_011066,AC092047 RPL35A_1_367 pseudo 2304833 RPL35AP9 ribosomal protein L35a pseudogene 9 19123937 100271311 NG_011072,AC080013 RPL35A_2_427 pseudo 2305117 RPL35P1 ribosomal protein L35 pseudogene 1 19123937 440737 NG_010846,AL359259 RPL35_1_181 pseudo 2305508 RPL35P2 ribosomal protein L35 pseudogene 2 19123937 646766 NG_009694,AL354740 RPL35_1_683 pseudo 2305609 RPL35P3 ribosomal protein L35 pseudogene 3 19123937 728010 NG_011046,AL133406 RPL35_2_728 pseudo 2305208 RPL35P4 ribosomal protein L35 pseudogene 4 19123937 100271006 NG_010829,AC004996,CH236948 RPL35_3_799 pseudo 2304504 RPL35P5 ribosomal protein L35 pseudogene 5 19123937,12690205,11181995,17353931 441246 NG_009598,AC006001,CH236961,CH471140 EAL23736,EAX07921 RPL35_4_812 pseudo 2305207 RPL35P6 ribosomal protein L35 pseudogene 6 19123937 100271007 NG_010835,AC090420 RPL35_5_881 pseudo 2305633 RPL35P7 ribosomal protein L35 pseudogene 7 19123937 341604 NG_010519,AL136159,AL138689 RPL35_2_1335 pseudo 2305760 RPL35P8 ribosomal protein L35 pseudogene 8 19123937 643653 NG_010367,Z82202 RPL35_6_1759 pseudo 736673 RPL36 ribosomal protein L36 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 15635413,15489336,15489334,12962325,12477932,11875025,11401437,11230166,11076863,11042152,8722009,17353931,15189156,14567916,11256614,19061985,16381901,16341674,16169070 25873 NM_033643,NM_015414,AB046410,AB061833,AC011499,CH471139,AF077043,AK311990,AL050273,BC003052,BC091508,BM015858,BM841746,CR533465,CR613397,CR616362,BC004971,NG_017015 NP_378669,NP_056229,BAB21256,BAB79471,EAW69155,EAW69158,AAD27776,BAG34928,CAB43374,AAH03052,AAH04971,AAH91508,CAG38496,Q9BYF3,Q9Y3U8,CAL38051,CAL38621,ABM83022,ABM86215 Hs.408018 DKFZp566B023 60S ribosomal protein L36 protein-coding 1315369 RPL36A ribosomal protein L36a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 14752831,17353931,15189156,14567916,3542712,15772651,15489334,14702039,12477932,11401437,10409428,9110171,8722009,8012384,7959728,7821789,7626884,15342556,20967262 6173 NM_021029,NG_012523,AL035422,CH471115,U78027,Z55036,Z57591,AK096711,BC001781,BC031015,BC062219,BC070204,BF211310,BG504049,BG943625,CR542198,CR611948,CR612724,CR617894,D28414,AY927233,AW150895,BP245950,NM_001199972 NP_066357,CAI42360,CAQ52482,EAX02859,EAX02860,EAX02861,AAB64204,AAH01781,AAH31015,AAH62219,AAH70204,CAG46995,BAA05780,P83881,AAX08138,NP_001186901 Hs.432485 L44L|MGC72020|MIG6|RPL44 60S ribosomal protein L36a|60S ribosomal protein L44|L44-like ribosomal protein|OTTHUMP00000219410|cell growth-inhibiting gene 15 protein|cell migration-inducing gene 6 protein|dJ164F3.3 (ribosomal protein L44)|migration-inducing protein 6|ribosomal protein L36a homologue protein-coding 733562 RPL36AL ribosomal protein L36a-like Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 17207965,3542712,3396452,1577483,15489334,12490704,12477932,8722009 6166 NM_001001,AL139099,CH471078,AB063609,AK311959,BC000741,BC003145,BC070207,BC107716,CR542166,M15661 ADQ33197,NP_000992,EAW65760,BAC19836,BAG34899,AAH00741,AAH03145,AAH70207,AAI07717,CAG46963,AAA36589,Q969Q0 Hs.444749 MGC111574|RPL36A 60S ribosomal protein L36a|60S ribosomal protein L36a-like|ribosomal protein HL44|ribosomal protein L36a-like protein protein-coding 2303327 RPL36AP1 ribosomal protein L36a pseudogene 1 19123937 100131379 NG_009389,AL161757 RPL36A_19_1371 pseudo 2305052 RPL36AP10 ribosomal protein L36a pseudogene 10 19123937 100271140 NG_010190,AC093578 RPL36A_1_70 pseudo 2305496 RPL36AP11 ribosomal protein L36a pseudogene 11 19123937 100129180 NG_010823,AC126124 RPL36A_2_73 pseudo 2304481 RPL36AP12 ribosomal protein L36a pseudogene 12 19123937 100130034 NG_011254,AC099670 RPL36A_2_79 pseudo 2304822 RPL36AP13 ribosomal protein L36a pseudogene 13 19123937 100271323 NG_011127,AC009228 RPL36A_3_200 pseudo 2304821 RPL36AP14 ribosomal protein L36a pseudogene 14 19123937 100271324 NG_011136,AC016696 RPL36A_3_214 pseudo 2304820 RPL36AP15 ribosomal protein L36a pseudogene 15 19123937 100271325 NG_011142,AC006509 RPL36A_4_216 pseudo 2304818 RPL36AP16 ribosomal protein L36a pseudogene 16 19123937 100271327 NG_011153,AC092431 RPL36A_5_238 pseudo 2304819 RPL36AP17 ribosomal protein L36a pseudogene 17 19123937 100271326 NG_011148,AC104308 RPL36A_4_361 pseudo 2304817 RPL36AP18 ribosomal protein L36a pseudogene 18 19123937 100271328 NG_011157,AC096743 RPL36A_5_491 pseudo 2304815 RPL36AP19 ribosomal protein L36a pseudogene 19 19123937 100271330 NG_011165,AC093663 RPL36A_7_509 pseudo 1343028 RPL36AP2 ribosomal protein L36a pseudogene 2 19123937 326301 NG_002553,AL355076 RPL36A_18_1380 pseudo 2304816 RPL36AP20 ribosomal protein L36a pseudogene 20 19123937 100271329 NG_011160,AC008571 RPL36A_6_630 pseudo 2304813 RPL36AP21 ribosomal protein L36a pseudogene 21 19123937 100271332 NG_011174,AC034247 RPL36A_8_545 pseudo 2304740 RPL36AP23 ribosomal protein L36a pseudogene 23 19123937 729075 NG_011389,AC083795 RPL36A_6_507 pseudo 2304594 RPL36AP24 ribosomal protein L36a pseudogene 24 19123937 100271508 NG_010779,Z98742 RPL36A_10_733 pseudo 2304814 RPL36AP25 ribosomal protein L36a pseudogene 25 19123937 100271331 NG_011170,AL035090 RPL36A_7_666 pseudo 2305795 RPL36AP26 ribosomal protein L36a pseudogene 26 19123937 729909 NG_011362,AC005550,CH236948 RPL36A_8_787 pseudo 2305900 RPL36AP27 ribosomal protein L36a pseudogene 27 19123937 100128072 NG_010387,AC004938,CH236960 RPL36A_9_808 pseudo 2304593 RPL36AP28 ribosomal protein L36a pseudogene 28 19123937 100271509 NG_010785,AC104843 RPL36A_10_864 pseudo 2304592 RPL36AP29 ribosomal protein L36a pseudogene 29 19123937 100271510 NG_010792,AC073629,CH236948 RPL36A_11_788 pseudo 2304591 RPL36AP30 ribosomal protein L36a pseudogene 30 19123937 100271511 NG_010796,AC004975,CH236954 RPL36A_11_867 pseudo 2305115 RPL36AP31 ribosomal protein L36a pseudogene 31 19123937 642320 NG_010062,AC023194 RPL36A_13_923 pseudo 2304590 RPL36AP32 ribosomal protein L36a pseudogene 32 19123937 100271512 NG_010801,AC040975 RPL36A_12_887 pseudo 2305667 RPL36AP33 ribosomal protein L36a pseudogene 33 19123937,12477932 100191039 NG_008765,AL133476,BC020828 AAH20828,Q05CT7 Hs.684462 KIAA0375|MGC23914|RPL36A_15_975 pseudo 2304589 RPL36AP34 ribosomal protein L36a pseudogene 34 19123937 100271513 NG_010808,AL355433 RPL36A_14_970 pseudo 2304465 RPL36AP35 ribosomal protein L36a pseudogene 35 19123937 100271610 NG_011295,AL358779 RPL36A_16_1006 pseudo 2304985 RPL36AP36 ribosomal protein L36a pseudogene 36 19123937 644834 NG_011167,AL355355 RPL36A_13_1022 pseudo 2304408 RPL36AP37 ribosomal protein L36a pseudogene 37 19123937,14567916,15189156,17353931,3542712 729362 NG_010078,AC116533 RPL36A_14_1122 pseudo 2304436 RPL36AP38 ribosomal protein L36a pseudogene 38 19123937 100271642 NG_010129,AP001324 RPL36A_16_1155 pseudo 2304435 RPL36AP39 ribosomal protein L36a pseudogene 39 19123937 100271643 NG_010138,AC139143 RPL36A_17_1112 pseudo 1349669 RPL36AP4 ribosomal protein L36a pseudogene 4 19123937 326304 NG_002556,AC005924,AL132838 RPL36A_19_1402 pseudo 2304394 RPL36AP40 ribosomal protein L36a pseudogene 40 19123937,12477932,11401437 554234 NG_005141,AC015820,BC058160 Hs.502159 RPL36A_15_1127 pseudo 2304434 RPL36AP41 ribosomal protein L36a pseudogene 41 19123937 100271644 NG_010145,AC079866 RPL36A_17_1248 pseudo 2304433 RPL36AP42 ribosomal protein L36a pseudogene 42 19123937 100271645 NG_010151,AL139099 RPL36A_18_1363 pseudo 2304432 RPL36AP43 ribosomal protein L36a pseudogene 43 19123937 100271646 NG_010155,AC013787 RPL36A_21_1460 pseudo 2304844 RPL36AP44 ribosomal protein L36a pseudogene 44 19123937 100132199 NG_010534,AC087385 RPL36A_21_1441 pseudo 2305886 RPL36AP45 ribosomal protein L36a pseudogene 45 19123937 441727 NG_011373,AC113208 RPL36A_20_1453 pseudo 2305906 RPL36AP46 ribosomal protein L36a pseudogene 46 19123937 729621 NG_010098,AC110602 RPL36A_22_1565 pseudo 2304431 RPL36AP47 ribosomal protein L36a pseudogene 47 19123937 100271647 NG_011347,AC053481 RPL36A_22_1567 pseudo 2305724 RPL36AP48 ribosomal protein L36a pseudogene 48 19123937 646175 NG_010166,AC007448 RPL36A_23_1571 pseudo 2305559 RPL36AP49 ribosomal protein L36a pseudogene 49 19123937 284230 NG_010372,AP001086 RPL36A_23_1584 pseudo 1352436 RPL36AP5 ribosomal protein L36a pseudogene 5 19123937 387090 NG_009373,AL591473 RPL36A_9_691|bA256G5.1 pseudo 2304430 RPL36AP50 ribosomal protein L36a pseudogene 50 19123937 100271648 NG_010171,AC011476 RPL36A_26_1671 pseudo 2305468 RPL36AP51 ribosomal protein L36a pseudogene 51 19123937 649299 NG_010444,AC010620 RPL36A_25_1638 pseudo 2304464 RPL36AP53 ribosomal protein L36a pseudogene 53 19123937 100271611 NG_011299,AC007022 RPL36A_27_1803 pseudo 2304463 RPL36AP54 ribosomal protein L36a pseudogene 54 19123937 100271612 NG_011305,AC004383 RPL36A_28_1814 pseudo 2303331 RPL36AP6 ribosomal protein L36a pseudogene 6 19123937 641556 NG_009374,AL162389 RPL36A_12_1002|bA380I20.1 pseudo 2303862 RPL36AP7 ribosomal protein L36a pseudogene 7 19123937,11181995 728202 NG_006535,AC011933,CH471099 EAW89273 RPL36A_24_1574 pseudo 2303828 RPL36AP8 ribosomal protein L36a pseudogene 8 19123937,11181995 643007 NG_009452,AC018868,CH471125 EAW92322 RPL36A_20_1424 pseudo 2305053 RPL36AP9 ribosomal protein L36a pseudogene 9 19123937 100271139 NG_010185,AC093151 RPL36A_1_38 pseudo 1345831 RPL36P1 ribosomal protein L36 pseudogene 1 19123937 140697 NG_000983,AL121902 RPL36_9_1713|bA80K6.3 pseudo 2305203 RPL36P10 ribosomal protein L36 pseudogene 10 19123937 100271011 NG_010851,AL359633 RPL36_3_697 pseudo 2304865 RPL36P11 ribosomal protein L36 pseudogene 11 19123937,11181995 642531 NG_011386,AC116353,CH471062 EAW62038 RPL36_1_620 pseudo 2305202 RPL36P12 ribosomal protein L36 pseudogene 12 19123937 100271012 NG_010855,AC004884,CH236947 RPL36_4_831 pseudo 2305201 RPL36P13 ribosomal protein L36 pseudogene 13 19123937 100271013 NG_010861,AC073626,CH236947 RPL36_5_837 pseudo 2304991 RPL36P14 ribosomal protein L36 pseudogene 14 19123937 347292 NG_009517,AL669983 P0C6E6 RPL36_5_1005 pseudo 2304812 RPL36P15 ribosomal protein L36 pseudogene 15 19123937 100271334 NG_011182,AC083806 RPL36_6_1283 pseudo 2305467 RPL36P16 ribosomal protein L36 pseudogene 16 19123937,17717079,15128046,12832682,11181079,9890157,2813061,2726448,2573390,2308828,1974816 651600 NG_000008,AC008962 RPL36_7_1657 pseudo 2304811 RPL36P17 ribosomal protein L36 pseudogene 17 19123937 100271336 NG_011192,AC003071 RPL36_8_1743 pseudo 2304759 RPL36P18 ribosomal protein L36 pseudogene 18 19123937 100271394 NG_010182,AL589786 RPL36_10_1804 pseudo 1350263 RPL36P2 ribosomal protein L36 pseudogene 2 19123937 140751 NG_000994,AL133230 RPL36_8_1711|dJ530I15.5 pseudo 1346177 RPL36P3 ribosomal protein L36 pseudogene 3 19123937,9847074 326303 NG_002555,AC007160 RPL36AP3|RPL36_6_1387 pseudo 1347593 RPL36P4 ribosomal protein L36 pseudogene 4 19123937 140750 NG_000993,AL121586 RPL36_7_1697|dJ477O4.3 pseudo 2305923 RPL36P5 ribosomal protein L36 pseudogene 5 19123937 127295 NG_010335,AL590609 RPL36_1_21 pseudo 2305206 RPL36P6 ribosomal protein L36 pseudogene 6 19123937 100271008 NG_010839,AL592076 RPL36_2_186 pseudo 2305204 RPL36P7 ribosomal protein L36 pseudogene 7 19123937 100271010 NG_010847,AC132008 RPL36_3_453 pseudo 2305917 RPL36P8 ribosomal protein L36 pseudogene 8 19123937 643205 NG_010694,AC112719 RPL36_4_490 pseudo 2305205 RPL36P9 ribosomal protein L36 pseudogene 9 19123937 100271009 NG_010844,AL033519 RPL36_2_687 pseudo 731374 RPL37 ribosomal protein L37 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 7545944,15189156,14567916,15489334,15485924,12477932,11875025,11401437,9582194,8722009,7588717,17353931 6167 NM_000997,AB007183,AB007184,AB061834,AC008810,CH471119,AB055770,AK311827,BC067790,BC079477,BC084576,BU954721,BX647123,CR456890,CR613871,CR621468,D23661,L11567,XR_108574,XR_112729,XR_113736 NP_000988,BAA25842,BAA25843,BAB79472,EAW56002,EAW56003,EAW56004,EAW56005,BAB62864,BAG34769,AAH79477,AAH84576,CAG33171,BAA04888,AAA62148,P61927 Hs.80545,Hs.558601 DKFZp686G1699|MGC99572 60S ribosomal protein L37|60S ribosomal protein L37a|G1.16|OTTHUMP00000221318|OTTHUMP00000221792 protein-coding 1317728 RPL37A ribosomal protein L37a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17353931,15189156,14567916,15489334,12962325,12477932,11401437,8722009,8224875,7821789,1437567,16169070 6168 NM_000998,AC073321,CH471063,AK289472,AK291857,BC000555,BC014262,BC016748,BC039030,BC047872,BC063476,BC067789,BC082239,CD249666,CR542152,CR613913,CR618026,D28355,L06499,L22154,X66699 NP_000989,AAY15078,EAW70569,EAW70570,EAW70571,BAF82161,BAF84546,AAH00555,AAH14262,AAH16748,AAH63476,AAH67789,AAH82239,CAG46949,BAA05721,AAA60280,CAA47244,P61513,Q6P4E4 Hs.433701 MGC74786 60S ribosomal protein L37a|OTTHUMP00000207758|OTTHUMP00000207759 protein-coding 1345901 RPL37AP1 ribosomal protein L37a pseudogene 1 19123937 140717 NG_000988,AL132772 RPL37A_5_1704|dJ1013A22.4 pseudo 2304810 RPL37AP2 ribosomal protein L37a pseudogene 2 19123937 100271337 NG_011201,AC104784 RPL37A_1_476 pseudo 2305861 RPL37AP3 ribosomal protein L37a pseudogene 3 19123937 100132988 NG_010643,Z95118 RPL37A_1_734 pseudo 2304809 RPL37AP4 ribosomal protein L37a pseudogene 4 19123937 100271338 NG_011210,AL031121 RPL37A_2_776 pseudo 2304734 RPL37AP5 ribosomal protein L37a pseudogene 5 19123937 100129856 NG_010341,AC009220,CH236950 RPL37A_2_859 pseudo 2304808 RPL37AP6 ribosomal protein L37a pseudogene 6 19123937 100271339 NG_011215,AC002381,CH236947 RPL37A_3_833 pseudo 2305333 RPL37AP7 ribosomal protein L37a pseudogene 7 19123937 100131730 NG_010768,AC100771 RPL37A_4_1128 pseudo 2305513 RPL37AP8 ribosomal protein L37a pseudogene 8 19123937,11181995 644338 NG_011253,AP000907,AP001781,CH471065 EAW67161,A6NKH3 RPL37A_3_1174 pseudo 2304467 RPL37AP9 ribosomal protein L37a pseudogene 9 19123937 100271606 NG_011276,AC007215 RPL37A_4_1209 pseudo 1347650 RPL37P1 ribosomal protein L37 pseudogene 1 19123937 140696 NG_000982,AL389875 RPL37_9_1698|bA563A22B.2 pseudo 2305199 RPL37P10 ribosomal protein L37 pseudogene 10 19123937 100271015 NG_010869,AC023881 RPL37_2_245 pseudo 2305198 RPL37P11 ribosomal protein L37 pseudogene 11 19123937 100271016 NG_010873,AC015977 RPL37_3_203 pseudo 2305197 RPL37P12 ribosomal protein L37 pseudogene 12 19123937 100271017 NG_010879,AC011753 RPL37_3_259 pseudo 2305196 RPL37P13 ribosomal protein L37 pseudogene 13 19123937 100271018 NG_010885,AC107083 RPL37_4_228 pseudo 2305195 RPL37P14 ribosomal protein L37 pseudogene 14 19123937 100271019 NG_010890,AC098869 RPL37_4_470 pseudo 2305194 RPL37P15 ribosomal protein L37 pseudogene 15 19123937 100271020 NG_010894,AL133388 RPL37_5_710 pseudo 2305193 RPL37P16 ribosomal protein L37 pseudogene 16 19123937 100271021 NG_010897,AC010655 RPL37_6_843 pseudo 2304961 RPL37P17 ribosomal protein L37 pseudogene 17 19123937 100271202 NG_010508,AL359092 RPL37_7_1015 pseudo 2304805 RPL37P18 ribosomal protein L37 pseudogene 18 19123937 100271342 NG_011234,AL138768 RPL37_8_1033 pseudo 2304588 RPL37P19 ribosomal protein L37 pseudogene 19 19123937 100271515 NG_010817,AC004801 RPL37_10_1232 pseudo 1351046 RPL37P2 ribosomal protein L37 pseudogene 2 19123937 116730 NG_001301,AP003385,U56856 PSANK1|RPL37_9_1150 pseudo 2304807 RPL37P20 ribosomal protein L37 pseudogene 20 19123937 100271340 NG_011219,AC006512 RPL37_6_1200 pseudo 2304587 RPL37P21 ribosomal protein L37 pseudogene 21 19123937 100271516 NG_010821,AL356954 RPL37_11_1318 pseudo 2304806 RPL37P22 ribosomal protein L37 pseudogene 22 19123937 100271341 NG_011228,AC004223 RPL37_7_1538 pseudo 2305838 RPL37P23 ribosomal protein L37 pseudogene 23 19123937 648217 NG_010124,AC011468 RPL37_8_1665 pseudo 2304758 RPL37P24 ribosomal protein L37 pseudogene 24 19123937 100271395 NG_010186,AL589872 RPL37_11_1779 pseudo 1348663 RPL37P3 ribosomal protein L37 pseudogene 3 19123937,10830953 378818 NG_005972,AP000745,AP001671 RL37P|RPL37_13_1720 pseudo 1346315 RPL37P4 ribosomal protein L37 pseudogene 4 19123937,10830953 378819 NG_005973,AP000403,AP001676 RL37P2|RPL37_10_1721 pseudo 1605743 RPL37P5 ribosomal protein L37 pseudogene 5 19123937 654369 NG_005974,AL049874 RPL37_12_1377 pseudo 1603842 RPL37P6 ribosomal protein L37 pseudogene 6 19123937 346950 NG_005971,AC013644 RPL37_5_905 pseudo 2305390 RPL37P7 ribosomal protein L37 pseudogene 7 19123937 100270890 NG_010225,AL049745 RPL37_1_52 pseudo 2305200 RPL37P8 ribosomal protein L37 pseudogene 8 19123937 100271014 NG_010864,AL451007 RPL37_2_190 pseudo 2305447 RPL37P9 ribosomal protein L37 pseudogene 9 19123937 100270828 NG_011217,AL590128 RPL37_1_4 pseudo 1313682 RPL38 ribosomal protein L38 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq] 9375793,17353931,15189156,14567916,16730941,15489334,12477932,11875025,11401437,9582194,8722009,16712791,17643375 6169 NM_000999,NM_001035258,AB007185,AC100786,CH471099,AB055771,AK312119,BC000603,BQ276548,BU532782,CB124619,CB128529,Z26876 NP_000990,NP_001030335,BAA25844,EAW89137,EAW89138,EAW89139,EAW89140,BAB62865,BAG35055,AAH00603,CAA81488,P63173 Hs.380953 60S ribosomal protein L38 protein-coding 1345580 RPL38P1 ribosomal protein L38 pseudogene 1 9375793,8185574,8166699,19123937 116809 NG_000963,AC024897,AF245699,S70431,U07144 RPL38_1_417 pseudo 2304614 RPL38P2 ribosomal protein L38 pseudogene 2 19123937 100129991 NG_011032,AC105399 RPL38_1_244 pseudo 2304612 RPL38P3 ribosomal protein L38 pseudogene 3 19123937 100132311 NG_011115,AC111194 RPL38_2_479 pseudo 735612 RPL39 ribosomal protein L39 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 8764829,15189156,14567916,15489334,12477932,11875025,11401437,8908372,8722009,7821789 6170 AB046411,NM_001000,D28397,D79205,U57846,AB061835,AC005052,CH471161,BC001019,BC070205,CR625387,NG_016250 NP_000991,BAA05763,BAA11465,AAB02265,P62891,ABM82814,ABM86000,BAB21257,BAB79473,EAW89847,EAW89848,EAW89849,AAH01019,AAH70205 Hs.300141,Hs.558387 60S ribosomal protein L39 protein-coding 1347635 RPL39L ribosomal protein L39-like This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as 'ribosomal protein L39' in the public databases, its official name is 'ribosomal protein L39-like'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq] 1580863 17207965,12490704,15489334,12477932,12359333 116832 NM_052969,AB063607,AC007488,CH471052,AB063610,AF548529,BC012328,CR603001,L05096 ADQ32401,NP_443201,BAC19834,EAW78156,BAC19837,AAN52397,AAH12328,AAC15859,Q96EH5 Hs.647900 RPL39L1 60S ribosomal protein L39-2|60S ribosomal protein L39-like|L39-2|OTTHUMP00000209938|OTTHUMP00000209940|ribosomal protein L39-like 1|ribosomal protein L39-like protein protein-coding 1342999 RPL39P ribosomal protein L39 pseudogene 19123937 140719 NG_000990,AL121914 RPL39_20_1715|dJ1167H4.5 pseudo 2304616 RPL39P10 ribosomal protein L39 pseudogene 10 19123937 100129952 NG_010843,AL590135 RPL39_4_182 pseudo 2305192 RPL39P11 ribosomal protein L39 pseudogene 11 19123937 100271022 NG_010901,AL512326 RPL39_3_134 pseudo 2305446 RPL39P12 ribosomal protein L39 pseudogene 12 19123937 100270829 NG_011226,AL645608 RPL39_1_3 pseudo 2305750 RPL39P13 ribosomal protein L39 pseudogene 13 19123937 100130802 NG_011255,AL714022 RPL39_3_72 pseudo 2304845 RPL39P14 ribosomal protein L39 pseudogene 14 19123937 100132127 NG_010167,AC079354 RPL39_6_311 pseudo 2304981 RPL39P15 ribosomal protein L39 pseudogene 15 19123937 647236 NG_009585,AC016700 RPL39_5_239 pseudo 2305191 RPL39P16 ribosomal protein L39 pseudogene 16 19123937 100271023 NG_010908,AC073415 RPL39_5_258 pseudo 2305190 RPL39P17 ribosomal protein L39 pseudogene 17 19123937 100271024 NG_010914,AC069271 RPL39_6_343 pseudo 2305189 RPL39P18 ribosomal protein L39 pseudogene 18 19123937 100271025 NG_010919,AC097635 RPL39_7_347 pseudo 2305188 RPL39P19 ribosomal protein L39 pseudogene 19 19123937 100271027 NG_010926,AC007488 RPL39_8_448 pseudo 1344131 RPL39P2 ribosomal protein L39 pseudogene 2 19123937 326306 NG_002558,AL049829 RPL39_16_1342 pseudo 2305642 RPL39P20 ribosomal protein L39 pseudogene 20 19123937 100131160 NG_010462,AC026410 RPL39_10_584 pseudo 2305473 RPL39P21 ribosomal protein L39 pseudogene 21 19123937 644499 NG_010774,AC116337 RPL39_9_576 pseudo 2305187 RPL39P22 ribosomal protein L39 pseudogene 22 19123937 100271028 NG_010931,AC010631 RPL39_8_554 pseudo 2304960 RPL39P23 ribosomal protein L39 pseudogene 23 19123937,9847074 100271203 NG_010511,AC004920,AC009296,CH236955 RPL39_10_809 pseudo 2304757 RPL39P24 ribosomal protein L39 pseudogene 24 19123937 100271396 NG_010191,AL593851 RPL39_11_1016 pseudo 2304586 RPL39P25 ribosomal protein L39 pseudogene 25 19123937 100271517 NG_010826,AC010997 RPL39_11_1067 pseudo 2304585 RPL39P26 ribosomal protein L39 pseudogene 26 19123937 100271518 NG_010831,AC013828 RPL39_12_1121 pseudo 2305747 RPL39P27 ribosomal protein L39 pseudogene 27 19123937 100133222 NG_010530,AC092451 RPL39_13_1220 pseudo 2304583 RPL39P28 ribosomal protein L39 pseudogene 28 19123937 100271520 NG_010840,AC005294 RPL39_14_1253 pseudo 2304581 RPL39P29 ribosomal protein L39 pseudogene 29 19123937 100271522 NG_010848,AL356266 RPL39_15_1333 pseudo 1352723 RPL39P3 ribosomal protein L39 pseudogene 3 19123937,11181995,9847074 285785 NG_003156,AC019205,CH471051 EAW48771 RPL39_9_712 pseudo 2304584 RPL39P30 ribosomal protein L39 pseudogene 30 19123937 100271519 NG_010837,AC010531 RPL39_12_1504 pseudo 2304578 RPL39P31 ribosomal protein L39 pseudogene 31 19123937 100271525 NG_010862,AC009127 RPL39_17_1495 pseudo 2305562 RPL39P32 ribosomal protein L39 pseudogene 32 19123937 100131387 NG_010314,AC015911 RPL39_13_1539 pseudo 2304582 RPL39P33 ribosomal protein L39 pseudogene 33 19123937 100271521 NG_010845,AC015724 RPL39_14_1560 pseudo 2304580 RPL39P34 ribosomal protein L39 pseudogene 34 19123937 100271523 NG_010853,AC022150 RPL39_15_1666 pseudo 2304579 RPL39P35 ribosomal protein L39 pseudogene 35 19123937 100271524 NG_010856,AC125388 RPL39_16_1667 pseudo 2304577 RPL39P36 ribosomal protein L39 pseudogene 36 19123937 100271526 NG_010865,AC022137 RPL39_17_1668 pseudo 2304576 RPL39P37 ribosomal protein L39 pseudogene 37 19123937 100271528 NG_010875,AC022137 RPL39_18_1669 pseudo 2304575 RPL39P38 ribosomal protein L39 pseudogene 38 19123937 100271529 NG_010881,AC008397 RPL39_19_1635 pseudo 2304574 RPL39P39 ribosomal protein L39 pseudogene 39 19123937 100271530 NG_010887,AL135939 RPL39_19_1716 pseudo 2303442 RPL39P4 ribosomal protein L39 pseudogene 4 19123937 654392 NG_009535,AC090844 RPL39_18_1545 pseudo 2304573 RPL39P40 ribosomal protein L39 pseudogene 40 19123937 100271531 NG_010891,AP000963 RPL39_21_1719 pseudo 2304572 RPL39P41 ribosomal protein L39 pseudogene 41 19123937 100271532 NG_010896,Z82188 RPL39_22_1750 pseudo 2304756 RPL39P42 ribosomal protein L39 pseudogene 42 19123937 100271397 NG_010198,AC005052 RPL39_23_1806 pseudo 2304151 RPL39P5 ribosomal protein L39 pseudogene 5 19123937 553117 NG_010827,AC010207,AB209077 BAD92314,Q59GN2 Hs.611241 RPL39_7_406 pseudo 2305389 RPL39P6 ribosomal protein L39 pseudogene 6 19123937 100270891 NG_010231,AL049653 RPL39_1_12 pseudo 2305388 RPL39P7 ribosomal protein L39 pseudogene 7 19123937 100270892 NG_010238,AL033528 RPL39_2_23 pseudo 2305387 RPL39P8 ribosomal protein L39 pseudogene 8 19123937 100270893 NG_010241,AL390729 RPL39_2_85 pseudo 2305386 RPL39P9 ribosomal protein L39 pseudogene 9 19123937 100270894 NG_010246,AC096949 RPL39_4_77 pseudo 1314865 RPL3L ribosomal protein L3-like This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq] 1580863 8921388,15189156,14567916,15489334,12477932,11157797,8828041,19615732,21048031 6123 NM_005061,AC005363,AE006640,CH471112,AK313162,BC050413,U65581 NP_005052,AAK61301,EAW85599,BAG35980,AAH50413,AAC50777,Q92901 Hs.657266 60S ribosomal protein L3-like protein-coding 1344273 RPL3P1 ribosomal protein L3 pseudogene 1 19123937,10830953,9740676 8488 NG_000877,AP000689,AP001725 RPL3P|RPL3_8_1731 pseudo 2305537 RPL3P10 ribosomal protein L3 pseudogene 10 19123937 100129004 NG_011223,AC105091 RPL3_5_896 pseudo 2305214 RPL3P11 ribosomal protein L3 pseudogene 11 19123937 100131893 NG_010281,AL360089 RPL3_7_963 pseudo 2305563 RPL3P12 ribosomal protein L3 pseudogene 12 19123937 100131358 NG_010160,AL513082 RPL3_3_1807 pseudo 1352938 RPL3P2 ribosomal protein L3 pseudogene 2 19123937,9177776 116935 NG_002397,AL662833,AL671883,AL845443,D83770,BX248310,BX927178,CR759828 RPL3-Hom|RPL3_1_679 pseudo 2303487 RPL3P3 ribosomal protein L3 pseudogene 3 19123937 645798 NG_009544,AL137100 RPL3_2_1372 pseudo 1345719 RPL3P4 ribosomal protein L3 pseudogene 4 326307 NG_002559,AL162151 pseudo 2305894 RPL3P5 ribosomal protein L3 pseudogene 5 19123937 100130450 NG_010767,AC093915 RPL3_1_338 pseudo 2305916 RPL3P6 ribosomal protein L3 pseudogene 6 19123937 643220 NG_010781,AC122718 RPL3_2_568 pseudo 2304632 RPL3P7 ribosomal protein L3 pseudogene 7 19123937 642741 NG_010941,Z98200 RPL3_3_732 pseudo 2305546 RPL3P8 ribosomal protein L3 pseudogene 8 19123937,9847074 646620 NG_009422,AC004161,CH236947 RPL3_4_835 pseudo 2305567 RPL3P9 ribosomal protein L3 pseudogene 9 19123937 100128963 NG_011010,AC025599 RPL3_6_918 pseudo 732803 RPL4 ribosomal protein L4 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 8268230,14667819,17220478,15189156,14567916,15635413,15489334,14743216,12477932,11875025,11823430,11790298,11401437,10964612,9582194,9373149,8722009,8125298,18809582,19710015,18029348,7575549 6124 L20868,AB007167,AB061820,AC116913,CH471082,AB208977,AK125772,AK130784,AK223057,AK291117,AK291859,AK294113,AK297484,BC001365,BC005817,BC007748,BC007996,BC009888,BC010151,BC014653,BC018840,BC030000,BC040610,BC066925,NM_000968,BC095427,CR590024,CR590199,CR590389,CR590785,CR591571,CR592509,CR592711,CR592894,CR592916,CR593403,CR593486,CR593700,CR593926,CR594115,CR594668,CR596506,CR596594,CR596867,CR597698,CR598274,CR598321,CR598597,CR598782,CR598818,CR599223,CR600001,CR600252,CR600520,CR600624,CR600936,CR603167,CR603701,CR603778,CR603779,CR603827,CR604273,CR604370,CR604722,CR605435,CR605656,CR606421,CR606932,CR607454,CR607843,CR608556,CR608966,CR609054,CR609391,CR609569,CR611716,CR611824,CR611893,CR612284,CR612355,CR612494,CR612622,CR613835,CR615143,CR615206,CR615366,CR615743,CR615745,CR616839,CR617069,CR617258,CR617296,CR618330,CR618503,CR619311,CR619644,CR619736,CR619787,CR619821,CR619963,CR621229,CR621294,CR621297,CR622536,CR623015,CR623016,CR623277,CR624000,CR624303,CR624474,CR624900,CR625092,CR626053,CR626450,CR626518,CR626519,CR626593,D23660 BAA04887,AAA60281,P36578,Q53G74,Q59GY2,ABM83115,ABM86309,NP_000959,BAB79458,EAW77773,EAW77774,EAW77775,EAW77776,BAD92214,BAD96777,BAF83806,BAF84548,BAG57447,BAG59904,AAH01365,AAH05817,AAH07748,AAH07996,AAH09888,AAH10151,AAH14653,AAH95427,AAH66925 Hs.186350,Hs.644628 60S ribosomal protein L1|60S ribosomal protein L4 protein-coding 736920 RPL41 ribosomal protein L41 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 18482256,20234822,1326959,15189156,14567916,15489334,12477932,11780052,11710515,11401437,9891856,9582194,9299532,8722009,7821789,20098747 6171 NM_001035267,NM_021104,AB007186,AB010874,AC034102,CH471054,AF026844,BC014383,BC015984,BC017820,BC032611,BC062462,BC064907,BC066328,BC070252,BC070253,BC070254,BC070255,BC070483,BC082759,BC105279,BC105286,BC105296,BC105794,BC105795,BC105799,BC142666,BC142726,BF673574,CR599786,CR605341,CR609127,D28462,Z12962 NP_001030344,NP_066927,BAA28285,BAA31508,EAW96886,EAW96887,AAB82715,BAA05828,CAA78306,P62945,Q76N52,AAI56366,AAI57113 Hs.157160,Hs.727688,Hs.727743,Hs.632703,Hs.653904,Hs.658436,Hs.660053 60S ribosomal protein L41|HG12 protein|homologue of yeast ribosomal protein YL41 protein-coding 1354165 RPL41P1 ribosomal protein L41 pseudogene 1 22971 NG_000891,AL035562 RPL41L2|dJ1065O2.1 pseudo 1342766 RPL41P2 ribosomal protein L41 pseudogene 2 22970 NG_000890,AC004583,AC091304 pseudo 1354262 RPL41P3 ribosomal protein L41 pseudogene 3 22969 NG_000889,AL079295 pseudo 1342751 RPL41P4 ribosomal protein L41 pseudogene 4 9847074 326308 NG_002560,AC005480 pseudo 1351074 RPL41P5 ribosomal protein L41 pseudogene 5 8332507 6172 NG_008264,AC138123,S64030 RPL41L pseudo 2881919 RPL41P6 ribosomal protein L41 pseudogene 6 There are two copies of this pseudogene on chromosome Y within the P1 palindrome. This record represents the more telomeric copy. [provided by RefSeq] 12815422 286568 AC006386,NG_004755 pseudo 2881920 RPL41P7 ribosomal protein L41 pseudogene 7 There are two copies of this pseudogene on chromosome Y within the P1 palindrome. This record represents the more centromeric copy. [provided by RefSeq] 12815422 286570 AC012005,NG_004755 pseudo 2303466 RPL4P1 ribosomal protein L4 pseudogene 1 19123937,11096259,10810226,9850858,9110172,8188290,6440030,3016457,2939461,2788889,2129796 650808 NG_001332,AE000521,AE000659 RPL4_2_1340 pseudo 2305541 RPL4P2 ribosomal protein L4 pseudogene 2 19123937 646688 NG_010174,AL356005 RPL4_1_115 pseudo 2304369 RPL4P3 ribosomal protein L4 pseudogene 3 19123937 391135 NG_011155,Z98751 RPL4_1_122 pseudo 2304980 RPL4P4 ribosomal protein L4 pseudogene 4 19123937 647276 NG_010560,AC099661 RPL4_2_444 pseudo 2304377 RPL4P5 ribosomal protein L4 pseudogene 5 19123937,16169070 158345 NG_010714,AL391872 RPL4_3_960 pseudo 2305184 RPL4P6 ribosomal protein L4 pseudogene 6 19123937 100271033 NG_010955,Z86090 RPL4_4_1752 pseudo 731697 RPL5 ribosomal protein L5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 20554519,9465063,12054647,16648475,7772601,18697920,15189156,14567916,19506219,19375175,19191325,19061985,18560357,17660530,17242401,17116689,16710414,15635413,15469983,15308643,15231747,14743126,14702039,14667819,14612427,12962325,12477932,11875025,11824785,11790298,11751223,11710515,11410658,10766838,10491318,9738462,9687515,9582194,9373149,9042965,8806611,8722009,8626719,8125298,8049265,7937132,7935455,7649987,3279045,1712897,17681147,18426907,11447110,10094392,17373842,18650830,18809582,19525955,19710015,19773262,19834503,20087403,20368992,20378560 6125 NM_000969,NG_011779,AB061848,AL162740,CH471097,AB055762,AB208980,AF113210,AK092963,AK095815,AK222604,AK314720,BC001882,BC012937,BC109370,BC132970,BC132972,BG756697,BU941919,CR590151,CR590909,CR591229,CR591370,CR593452,CR594149,CR596877,CR599381,CR600028,CR600715,CR609940,CR610032,CR611283,CR612523,CR615053,CR618387,CR623308,CR623632,CR624988,CR625679,U14966,U76609 NP_000960,BAB79486,CAI22505,CAI22506,EAW73087,EAW73088,EAW73089,BAB62856,BAD92217,AAG39281,BAG53138,BAD96324,BAG37264,AAH01882,AAI09371,AAI32971,AAI32973,AAA85654,AAB18361,P46777,Q59GX9,Q5T7N0,Q8WYP1,Q9BUV4 Hs.532359 DBA6|MGC117339|MSTP030 60S ribosomal protein L5 protein-coding 1342859 RPL5P1 ribosomal protein L5 pseudogene 1 19123937 647436 NG_002690,AC090602 RPL5_12_1419 pseudo 2305844 RPL5P10 ribosomal protein L5 pseudogene 10 19123937 645807 NG_009583,AC122683 RPL5_4_365 pseudo 2305366 RPL5P11 ribosomal protein L5 pseudogene 11 19123937 402193 NG_010069,AC093849 RPL5_6_536 pseudo 2305444 RPL5P12 ribosomal protein L5 pseudogene 12 19123937 100270833 NG_011243,AC073855 RPL5_4_502 pseudo 2305443 RPL5P13 ribosomal protein L5 pseudogene 13 19123937 100270834 NG_011247,AC093860 RPL5_5_523 pseudo 2305442 RPL5P14 ribosomal protein L5 pseudogene 14 19123937 100270835 NG_011256,AC010469 RPL5_5_550 pseudo 2305441 RPL5P15 ribosomal protein L5 pseudogene 15 19123937 100270836 NG_011262,AC008852 RPL5_6_566 pseudo 2305440 RPL5P16 ribosomal protein L5 pseudogene 16 19123937 100270837 NG_011269,AC008885 RPL5_7_588 pseudo 2305438 RPL5P17 ribosomal protein L5 pseudogene 17 19123937 100270839 NG_011278,AC010486 RPL5_8_591 pseudo 2305706 RPL5P18 ribosomal protein L5 pseudogene 18 19123937 389428 NG_010276,AL109939 RPL5_11_750 pseudo 2305322 RPL5P19 ribosomal protein L5 pseudogene 19 19123937 100270906 NG_010305,AL590814 RPL5_10_724 pseudo 1353947 RPL5P2 ribosomal protein L5 pseudogene 2 19123937 140749 NG_000992,AL031663 RPL5_14_1705|dJ461P17.5 pseudo 2305096 RPL5P20 ribosomal protein L5 pseudogene 20 19123937 100131913 NG_010394,AL357052 RPL5_9_664 pseudo 2305439 RPL5P21 ribosomal protein L5 pseudogene 21 19123937 100270838 NG_011273,Z97352 RPL5_7_753 pseudo 2305632 RPL5P22 ribosomal protein L5 pseudogene 22 19123937 389644 NG_011351,AC021678 RPL5_12_886 pseudo 2305437 RPL5P23 ribosomal protein L5 pseudogene 23 19123937 100270840 NG_011285,AC083973 RPL5_8_899 pseudo 2305436 RPL5P24 ribosomal protein L5 pseudogene 24 19123937 100270841 NG_011288,AP003354 RPL5_9_935 pseudo 2304959 RPL5P25 ribosomal protein L5 pseudogene 25 19123937 100271204 NG_010517,AL355355 RPL5_10_1021 pseudo 2304958 RPL5P26 ribosomal protein L5 pseudogene 26 19123937 100271206 NG_010525,AC025426 RPL5_13_1059 pseudo 2304613 RPL5P27 ribosomal protein L5 pseudogene 27 19123937 100129998 NG_011070,AC016825 RPL5_14_1100 pseudo 2305493 RPL5P28 ribosomal protein L5 pseudogene 28 19123937 100131535 NG_011076,AL445199 RPL5_11_1110 pseudo 2305377 RPL5P29 ribosomal protein L5 pseudogene 29 19123937 390158 NG_010050,AC022882 RPL5_15_1144 pseudo 2303319 RPL5P3 ribosomal protein L5 pseudogene 3 19123937 400385 NG_009504,AC013752 HsT18216|RPL5_13_1449 pseudo 2304630 RPL5P30 ribosomal protein L5 pseudogene 30 19123937 645160 NG_011357,AP000941 RPL5_16_1181 pseudo 2304957 RPL5P32 ribosomal protein L5 pseudogene 32 19123937 100271207 NG_010532,AC079090 RPL5_17_1422 pseudo 2305712 RPL5P33 ribosomal protein L5 pseudogene 33 19123937 100130929 NG_010584,AC091062 RPL5_18_1557 pseudo 2305891 RPL5P34 ribosomal protein L5 pseudogene 34 19123937 388907 NG_010237,AL049757 RPL5_15_1754 pseudo 2304973 RPL5P35 ribosomal protein L5 pseudogene 35 19123937 100129647 NG_010574,AL023802,Z98885 RPL5_16_1760 pseudo 2305881 RPL5P4 ribosomal protein L5 pseudogene 4 19123937 643343 NG_009571,AL356362 RPL5_1_31 pseudo 2305678 RPL5P5 ribosomal protein L5 pseudogene 5 19123937 730213 NG_009600,AL356273 RPL5_1_139 pseudo 2305507 RPL5P6 ribosomal protein L5 pseudogene 6 19123937 646784 NG_010665,AL136109 RPL5_2_71 pseudo 2305597 RPL5P7 ribosomal protein L5 pseudogene 7 19123937 344178 NG_010588,AC106900,CH471058 EAX11157 RPL5_2_294 pseudo 2305867 RPL5P8 ribosomal protein L5 pseudogene 8 19123937 100130523 NG_011133,AC008279 RPL5_3_323 pseudo 2305445 RPL5P9 ribosomal protein L5 pseudogene 9 19123937 100270832 NG_011239,AC096591 RPL5_3_263 pseudo 733694 RPL6 ribosomal protein L6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6E family of ribosomal proteins. It is located in the cytoplasm. The protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and it has been suggested that the protein may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 8457378,8479925,15189156,20171175,14567916,15635413,15489334,15121898,14743216,12962325,12678981,12477932,11823430,11790298,11401437,11043511,10944468,9826564,9582194,9529352,8722009,8185817,7821789,7251593,6468376,16169070 6128 CR605343,CR605631,CR608788,CR610164,CR610998,CR612863,CR618245,CR622401,CR623025,CR624575,CR625620,CR626334,D17554,D28388,S71022,X69391,NM_000970,NM_001024662,AB042820,AC004086,CH471054,AF261087,AK298117,AK299470,AK308469,AK311863,AY320410,BC004138,BC013863,BC020679,BC022444,BC031009,BC032299,BC070195,BC071912,BC104824,BC104826,BU940020,CR595147,CR595727,CR599701,CR603976,CR605132 BAA04491,BAA05754,AAB30819,CAA49188,Q02878,Q7Z5Z2,Q8N5Z7,Q8TBK5,Q9HBB3,NP_000961,NP_001019833,BAB17292,EAW98004,EAW98005,EAW98006,EAW98007,EAW98008,EAW98009,EAW98010,AAF99680,BAG60400,BAG61435,BAG34804,AAP73810,AAH04138,AAH20679,AAH22444,AAH31009,AAH32299,AAH71912,AAI04825,AAI04827 Hs.546283,Hs.727542 SHUJUN-2|TAXREB107|TXREB1 60S ribosomal protein L6|DNA-binding protein TAXREB107|neoplasm-related protein C140|tax-responsive enhancer element-binding protein 107 protein-coding 2305364 RPL6P1 ribosomal protein L6 pseudogene 1 19123937,19615732 440587 NG_010027,AL603882 RPL6_1_44 pseudo 2304503 RPL6P10 ribosomal protein L6 pseudogene 10 19123937 642828 NG_010033,AC115223 RPL6_9_488 pseudo 2305321 RPL6P12 ribosomal protein L6 pseudogene 12 19123937 100270907 NG_010311,AC096741 RPL6_11_535 pseudo 2305655 RPL6P13 ribosomal protein L6 pseudogene 13 19123937 643974 NG_010698,AC093827 RPL6_10_498 pseudo 2305765 RPL6P14 ribosomal protein L6 pseudogene 14 19123937 391679 NG_011328,AC105918 RPL6_2_505 pseudo 2305435 RPL6P15 ribosomal protein L6 pseudogene 15 19123937 100270843 NG_011297,AC010307 RPL6_3_613 pseudo 2305502 RPL6P16 ribosomal protein L6 pseudogene 16 19123937 728365 NG_011360,AC079080 RPL6_12_538 pseudo 2305602 RPL6P17 ribosomal protein L6 pseudogene 17 19123937 100131229 NG_010828,AL050335 RPL6_4_660 pseudo 2305218 RPL6P18 ribosomal protein L6 pseudogene 18 19123937 100131805 NG_011144,AL591416 RPL6_13_667 pseudo 2305615 RPL6P19 ribosomal protein L6 pseudogene 19 19123937 646483 NG_010443,AC009245,CH236950 RPL6_14_853 pseudo 2305854 RPL6P2 ribosomal protein L6 pseudogene 2 19123937 343495 NG_011031,AL359915 RPL6_1_93 pseudo 2305823 RPL6P20 ribosomal protein L6 pseudogene 20 19123937 285900 NG_006618,AC091685 RPL6_6_811 pseudo 2305432 RPL6P21 ribosomal protein L6 pseudogene 21 19123937 100270846 NG_011317,AC004909,CH236948 RPL6_5_786 pseudo 2304509 RPL6P22 ribosomal protein L6 pseudogene 22 19123937 388460 NG_010561,AF279873 RPL6_7_890 pseudo 2305183 RPL6P24 ribosomal protein L6 pseudogene 24 19123937 100271034 NG_010958,AL157392 RPL6_8_1023 pseudo 2305595 RPL6P25 ribosomal protein L6 pseudogene 25 19123937 401725 NG_010323,AC090680 RPL6_15_1263 pseudo 2305182 RPL6P26 ribosomal protein L6 pseudogene 26 19123937 100271035 NG_010962,AC091152 RPL6_9_1550 pseudo 2304414 RPL6P27 ribosomal protein L6 pseudogene 27 19123937 645387 NG_009652,AP005202 RPL6_10_1582 pseudo 2304956 RPL6P28 ribosomal protein L6 pseudogene 28 19123937 100271208 NG_010536,Z83838 RPL6_16_1757 pseudo 2305374 RPL6P29 ribosomal protein L6 pseudogene 29 19123937 392505 NG_010304,AL355805 RPL6_17_1796 pseudo 2304363 RPL6P3 ribosomal protein L6 pseudogene 3 19123937 391181 NG_010044,AL365366 FLJ16613|RPL6_2_187 pseudo 2305857 RPL6P30 ribosomal protein L6 pseudogene 30 19123937 139452 NG_010970,AC078993 RPL6_11_1767 pseudo 2304741 RPL6P4 ribosomal protein L6 pseudogene 4 19123937 645054 NG_010981,AC062028 RPL6_3_194 pseudo 2305434 RPL6P5 ribosomal protein L6 pseudogene 5 19123937 100270844 NG_011303,AC064865 RPL6_4_280 pseudo 2305433 RPL6P6 ribosomal protein L6 pseudogene 6 19123937 100270845 NG_011311,AC006994 RPL6_5_321 pseudo 2305430 RPL6P7 ribosomal protein L6 pseudogene 7 19123937 100270848 NG_009953,AC132006 RPL6_7_423 pseudo 2305777 RPL6P8 ribosomal protein L6 pseudogene 8 19123937 100133100 NG_011224,AC078868 RPL6_8_430 pseudo 2305431 RPL6P9 ribosomal protein L6 pseudogene 9 19123937 100270847 NG_011322,AC134509 RPL6_6_412 pseudo 1350931 RPL7 ribosomal protein L7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 8441630,8360149,18697920,15189156,14567916,17258209,16797011,15635413,15592455,15489334,12962325,12704204,12477932,12401809,11790298,9582194,9373149,9268371,8722009,8125298,7862521,7750987,16169070,16541025,18809582,19615732,20379614,20828572 6129 BC071894,BC071895,BC087837,CR456773,CR621016,CR621519,L16558,X52967,X57958,X57959,NM_000971,AC111149,CH471068,L16557,AK225246,AK225254,AK291119,AK313365,BC006095,BC008850,BC009599,BC071671 AAH71894,AAH71895,AAH87837,CAG33054,AAH71671,AAA03081,CAA37139,CAA41026,CAA41027,P18124,NP_000962,EAW86999,EAW87000,BAF83808,BAG36165,AAH06095,AAH08850,AAH09599 Hs.421257,Hs.571841 MGC117326|humL7-1 60S ribosomal protein L7|OTTHUMP00000166003|OTTHUMP00000166004|OTTHUMP00000166005 protein-coding 1316865 RPL7A ribosomal protein L7a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 20936779,8360149,15189156,14567916,10848616,15635413,15489334,15361074,15303970,12543931,12477932,11790298,11759826,11401437,9703018,9582194,9373149,9030593,8800442,8764399,8722009,16541025,19125294,8499913,8482538,8125298,7651828,7568167,2966065,2403926,1756182,1696715,16169070,19913121,20628086 6130 NG_000837,AC002107,AL158826,CH471090,X52138,X61923,AB056665,AK222534,AK291123,AK311743,BC005128,BC020989,BC021052,BC021979,BC023594,BC023624,BC032533,BC071900,BC071901,BC073802,BC105290,BX641050,CR590295,CR590883,CR592304,CR592716,CR593208,CR593347,CR594094,CR596222,CR598739,NM_000972,CR600454,CR601499,CR601819,CR602650,CR605232,CR605545,CR607087,CR608089,CR608873,CR608942,CR609256,CR611037,CR611385,CR612394,CR612749,CR616252,CR617703,CR618005,CR618555,CR618604,CR619456,CR620003,CR620132,CR621543,CR622399,CR623324,CR624123,CR624133,CR625438,CR626332,CR626449,M36072,X06705,CR599403,AL593848,AL772161 NP_000963,CAI12832,CAI12833,CAI12834,EAW88061,EAW88062,EAW88063,EAW88064,EAW88065,EAW88066,CAA36383,CAA43925,BAB39381,BAF83812,BAG34686,AAH05128,AAH21979,AAH23594,AAH23624,AAH71900,AAH71901,AAH73802,AAI05291,AAA60282,CAA29889,P62424,Q5T8U2,Q5T8U4,Q9BY74,ABM83624,ABM86866 Hs.499839 SURF3|TRUP 60S ribosomal protein L7a|PLA-X polypeptide|surfeit 3|surfeit locus protein 3|thyroid hormone receptor uncoupling protein protein-coding 1343812 RPL7AL1 ribosomal protein L7A-like 1, G1-phase expressed 8123253 6131 1606440 RPL7AP10 ribosomal protein L7a pseudogene 10 8482538 161406 AC010620,NG_001317,AJ224082 RPL7AP3|RPL7AP68|rpL7a pseudo 2303838 RPL7AP11 ribosomal protein L7a pseudogene 11 19123937 728992 NG_009397,AC079841 RPL7A_5_397 pseudo 1346415 RPL7AP12 ribosomal protein L7a pseudogene 12 19123937 128668 NG_000969,AL121916 RPL7AL2|dJ189G13.1 pseudo 1353108 RPL7AP13 ribosomal protein L7a pseudogene 13 128748 NG_000974,AL135938 RPL7AL3|dJ348M17.1 pseudo 1343860 RPL7AP14 ribosomal protein L7a pseudogene 14 19123937 140756 NG_000999,AL133293 RPL7AL4|RPL7A_32_1700|dJ823N20.2 pseudo 2305385 RPL7AP15 ribosomal protein L7a pseudogene 15 19123937 100270895 NG_010250,AL356378 RPL7A_1_95 pseudo 2305384 RPL7AP16 ribosomal protein L7a pseudogene 16 19123937 100270896 NG_010253,AL604028 RPL7A_2_43 pseudo 2305383 RPL7AP17 ribosomal protein L7a pseudogene 17 19123937 100270897 NG_010257,AC099670 RPL7A_3_78 pseudo 2304417 RPL7AP18 ribosomal protein L7a pseudogene 18 19123937 390993 NG_009561,AL034417 FLJ26758|RPL7A_1_5 pseudo 2305181 RPL7AP19 ribosomal protein L7a pseudogene 19 19123937 100271036 NG_010967,AL031736 RPL7A_2_119 pseudo 2303344 RPL7AP2 ribosomal protein L7a pseudogene 2 19123937 652978 NG_009399,AL109628,AL132639 RPL7A_26_1357 pseudo 2305180 RPL7AP20 ribosomal protein L7a pseudogene 20 19123937 100271037 NG_010971,AL354681 RPL7A_3_155 pseudo 2305179 RPL7AP21 ribosomal protein L7a pseudogene 21 19123937 100271038 NG_010978,AL031736 RPL7A_4_120 pseudo 2305178 RPL7AP22 ribosomal protein L7a pseudogene 22 19123937 100271039 NG_010986,AC005042 RPL7A_4_289 pseudo 2305177 RPL7AP23 ribosomal protein L7a pseudogene 23 19123937 100271040 NG_010992,AC018449 RPL7A_5_385 pseudo 2305176 RPL7AP24 ribosomal protein L7a pseudogene 24 19123937 100271041 NG_010997,AC104472 RPL7A_6_424 pseudo 2305175 RPL7AP25 ribosomal protein L7a pseudogene 25 19123937 100271042 NG_011001,AC022294 RPL7A_6_441 pseudo 2305574 RPL7AP26 ribosomal protein L7a pseudogene 26 19123937 728128 NG_010339,AC067942 RPL7A_8_496 pseudo 2305233 RPL7AP27 ribosomal protein L7a pseudogene 27 19123937 152663 NG_010457,AC093789 RPL7A_11_540 pseudo 2304955 RPL7AP28 ribosomal protein L7a pseudogene 28 19123937 100271209 NG_010540,AC104821 RPL7A_10_519 pseudo 2305174 RPL7AP29 ribosomal protein L7a pseudogene 29 19123937 100271043 NG_011005,AL645949 RPL7A_7_455 pseudo 2306327 RPL7AP3 ribosomal protein L7a pseudogene 3 654370 NG_009375,AL121594 pseudo 2304747 RPL7AP30 ribosomal protein L7a pseudogene 30 19123937 441034 NG_011047,AC017007 RPL7A_9_511 pseudo 2305503 RPL7AP31 ribosomal protein L7a pseudogene 31 19123937 728315 NG_011300,AC068620 RPL7A_7_480 pseudo 2304876 RPL7AP32 ribosomal protein L7a pseudogene 32 19123937 133748 NG_010602,AC093270 RPL7A_8_583 pseudo 2305698 RPL7AP33 ribosomal protein L7a pseudogene 33 19123937 391850 NG_011377,AC008412 RPL7A_12_639 pseudo 2304635 RPL7AP34 ribosomal protein L7a pseudogene 34 19123937 441154 NG_010352,AL135905 RPL7A_14_708 pseudo 2304954 RPL7AP35 ribosomal protein L7a pseudogene 35 19123937 100271210 NG_010549,AL133406 RPL7A_10_727 pseudo 2305571 RPL7AP36 ribosomal protein L7a pseudogene 36 19123937 728179 NG_010595,AL136226 RPL7A_9_655 pseudo 2304500 RPL7AP37 ribosomal protein L7a pseudogene 37 19123937 645257 NG_010716,AL365223,CR590926,CR606030 Hs.625264 RPL7A_15_759 pseudo 2305549 RPL7AP38 ribosomal protein L7a pseudogene 38 19123937,9847074 442660 NG_009419,AC073472,CH236948 RPL7A_11_798 pseudo 2305616 RPL7AP39 ribosomal protein L7a pseudogene 39 19123937 646476 NG_010410,AC006477,AC105052 RPL7A_12_828 pseudo 2303343 RPL7AP4 ribosomal protein L7a pseudogene 4 19123937 652985 NG_009400,AL138499 RPL7A_27_1369 pseudo 2305518 RPL7AP40 ribosomal protein L7a pseudogene 40 19123937 442712 NG_009431,AC073900,CH236949 RPL7A_18_822 pseudo 2304951 RPL7AP41 ribosomal protein L7a pseudogene 41 19123937 100271213 NG_010563,AC004129,CH236948 RPL7A_16_795 pseudo 2304949 RPL7AP42 ribosomal protein L7a pseudogene 42 19123937 100271215 NG_010571,AC003080,CH236947 RPL7A_19_836 pseudo 2305547 RPL7AP43 ribosomal protein L7a pseudogene 43 19123937 644236 NG_010732,AC007000 RPL7A_17_815 pseudo 2304755 RPL7AP44 ribosomal protein L7a pseudogene 44 19123937 100271398 NG_011356,AL512593 RPL7A_21_1001 pseudo 2304379 RPL7AP45 ribosomal protein L7a pseudogene 45 19123937 100132678 NG_010378,AL354718 RPL7A_15_979 pseudo 2304395 RPL7AP46 ribosomal protein L7a pseudogene 46 19123937 441440 NG_010499,AL591438,CH878332 EAW50448 RPL7A_20_981 pseudo 2304953 RPL7AP47 ribosomal protein L7a pseudogene 47 19123937 100271211 NG_010554,AL441963 RPL7A_13_964 pseudo 2304952 RPL7AP48 ribosomal protein L7a pseudogene 48 19123937 100271212 NG_010558,AL163193 RPL7A_14_968 pseudo 2304950 RPL7AP49 ribosomal protein L7a pseudogene 49 19123937 100271214 NG_011370,AL772307 RPL7A_16_980 pseudo 1349617 RPL7AP5 ribosomal protein L7a pseudogene 5 19123937 326309 NG_002561,AL122013 RPL7A_26_1382 pseudo 2305487 RPL7AP50 ribosomal protein L7a pseudogene 50 19123937,8482538 87688 NG_003062,AC044782,AJ224080 RPL7A_23_1048 pseudo 2304571 RPL7AP51 ribosomal protein L7a pseudogene 51 19123937 100271533 NG_010899,AC022029 RPL7A_17_1050 pseudo 2304570 RPL7AP52 ribosomal protein L7a pseudogene 52 19123937 100271534 NG_010903,AL133513 RPL7A_18_1082 pseudo 2305629 RPL7AP53 ribosomal protein L7a pseudogene 53 19123937 401640 NG_011194,AL133333 RPL7A_22_1031 pseudo 2305230 RPL7AP54 ribosomal protein L7a pseudogene 54 19123937 390228 NG_010447,AP000893 RPL7A_22_1161 pseudo 2304569 RPL7AP55 ribosomal protein L7a pseudogene 55 19123937 100271535 NG_010910,AC044810 RPL7A_19_1118 pseudo 2304568 RPL7AP56 ribosomal protein L7a pseudogene 56 19123937 100271536 NG_010915,AC061997 RPL7A_21_1137 pseudo 2304567 RPL7AP57 ribosomal protein L7a pseudogene 57 19123937 100271537 NG_010920,AP003124 RPL7A_23_1164 pseudo 2305842 RPL7AP58 ribosomal protein L7a pseudogene 58 19123937 645846 NG_011385,AL135933 RPL7A_20_1131 pseudo 2305918 RPL7AP59 ribosomal protein L7a pseudogene 59 19123937 441642 XM_001714198,XM_001726036,XM_001724644,NG_010228,AC107032,CH471054 XP_001714250,XP_001726088,XP_001724696,EAW97328 RPL7A_24_1258 pseudo 1352270 RPL7AP6 ribosomal protein L7a pseudogene 6 19123937 326310 NG_002562,AL157789 RPL7A_27_1386 pseudo 2304566 RPL7AP60 ribosomal protein L7a pseudogene 60 19123937 100271538 NG_010924,AC004217 RPL7A_25_1279 pseudo 2304565 RPL7AP61 ribosomal protein L7a pseudogene 61 19123937 100271539 AL356580,NG_010928 RPL7A_25_1330 pseudo 2305622 RPL7AP62 ribosomal protein L7a pseudogene 62 19123937 644029 NG_010977,AC044787 RPL7A_28_1429 pseudo 2305552 RPL7AP63 ribosomal protein L7a pseudogene 63 19123937 401865 NG_011041,AC009108 RPL7A_28_1503 pseudo 2305461 RPL7AP64 ribosomal protein L7a pseudogene 64 19123937 728486 NG_011376,AC120057 RPL7A_29_1509 pseudo 2304563 RPL7AP65 ribosomal protein L7a pseudogene 65 19123937 100271543 NG_010952,AC127537 RPL7A_30_1522 pseudo 2304508 RPL7AP66 ribosomal protein L7a pseudogene 66 19123937 388474 NG_010633,AC011139 RPL7A_30_1597 pseudo 2304564 RPL7AP67 ribosomal protein L7a pseudogene 67 19123937 100271542 NG_010944,AC007998 RPL7A_29_1595 pseudo 2305794 RPL7AP68 ribosomal protein L7a pseudogene 68 19123937 729926 NG_010371,AC010620 RPL7A_31_1637 pseudo 2304562 RPL7AP69 ribosomal protein L7a pseudogene 69 19123937 100271545 AC044792,NG_010957 RPL7A_31_1673 pseudo 1351099 RPL7AP7 ribosomal protein L7a pseudogene 7 19123937,10557312 353013 AL671561,AL844851,BX005428,BX927141,CR759769,CR788234,CR925767,NG_002738,AL645939,BA000025 RPL7A_13_677|RPL7B|dJ377H14.2 pseudo 2305572 RPL7AP70 ribosomal protein L7a pseudogene 70 19123937 728139 NG_010403,AC000089 RPL7A_32_1739 pseudo 2304754 RPL7AP71 ribosomal protein L7a pseudogene 71 19123937 100271399 NG_010209,Z84469 RPL7A_33_1780 pseudo 2305489 RPL7AP72 ribosomal protein L7a pseudogene 72 19123937 100270754 NG_009639,Z70272 RPL7A_34_1809 pseudo 1353827 RPL7AP8 ribosomal protein L7a pseudogene 8 19123937 340749 NG_005665,AC067750 RPL7A_24_1075|bA141D8.1 pseudo 1606692 RPL7AP9 ribosomal protein L7a pseudogene 9 8482538 161322 NG_001316,AJ224081 rpL7a pseudo 1352288 RPL7L1 ribosomal protein L7-like 1 17353931,15489334,14702039,14574404,12477932,17207965 285855 NM_198486,AL035587,CH471081,AK021904,AK291310,AK291949,AK299816,BC036861,BC058020,BC064519,BC073890,CR595869,CR601324,HI574016 NP_940888,CAI21486,EAX04104,EAX04105,EAX04106,BAG51057,BAF83999,BAF84638,BAH13138,AAH58020,AAH73890,Q6DKI1,ACE87630,ACE86942,ADQ31929,CBX47497 Hs.520133 MGC62004|dJ475N16.4 60S ribosomal protein L7-like 1 protein-coding 4891561 RPL7L1P1 ribosomal protein L7-like 1 pseudogene 1 100129260 AL355821,AL359842,AL591764,NG_009895 pseudo 4891977 RPL7L1P11 ribosomal protein L7-like 1 pseudogene 11 347509 AC002368,NG_009927 pseudo 4891980 RPL7L1P2 ribosomal protein L7-like 1 pseudogene 2 100420155 AC005535,CH236955,NG_026460 pseudo 4891975 RPL7L1P3 ribosomal protein L7-like 1 pseudogene 3 100131964 AC005067,NG_009435 pseudo 4891978 RPL7L1P4 ribosomal protein L7-like 1 pseudogene 4 100130968 AC114322,NG_009915 pseudo 4891985 RPL7L1P5 ribosomal protein L7-like 1 pseudogene 5 390800 AC003043,NG_022451 pseudo 4891979 RPL7L1P6 ribosomal protein L7-like 1 pseudogene 6 100420201 AL136526,NG_024947 pseudo 4891974 RPL7L1P7 ribosomal protein L7-like 1 pseudogene 7 646641 AC069525,NG_022221 pseudo 4891976 RPL7L1P8 ribosomal protein L7-like 1 pseudogene 8 402152 AC021055,NG_009922 pseudo 4891983 RPL7L1P9 ribosomal protein L7-like 1 pseudogene 9 100128899 AC010886,NG_009911 pseudo 1347681 RPL7P ribosomal protein L7 pseudogene 19123937,8001978 6174 NG_001193,AC011382,X72686,X72687 RPL17P|RPL7_11_628 pseudo 2305583 RPL7P10 ribosomal protein L7 pseudogene 10 19123937 646538 NG_010722,AL158218 RPL7_2_66 pseudo 2305451 RPL7P11 ribosomal protein L7 pseudogene 11 19123937 100270823 NG_011186,AL357552 RPL7_1_6 pseudo 2305669 RPL7P12 ribosomal protein L7 pseudogene 12 19123937 100131085 NG_010041,AC009229 RPL7_3_208 pseudo 2305528 RPL7P13 ribosomal protein L7 pseudogene 13 19123937 130728 NG_010878,AC078994,AC109817 RPL7_4_218 pseudo 2304850 RPL7P14 ribosomal protein L7 pseudogene 14 19123937 100129743 NG_011075,AC023271,CH471063 EAW70327 RPL7_5_313 pseudo 2305429 RPL7P15 ribosomal protein L7 pseudogene 15 19123937 100270850 NG_009964,AC117401 RPL7_4_398 pseudo 2305904 RPL7P16 ribosomal protein L7 pseudogene 16 19123937 729677 NG_010415,AC073021 RPL7_5_405 pseudo 2305428 RPL7P17 ribosomal protein L7 pseudogene 17 19123937 100270851 NG_009971,AC104771 RPL7_6_493 pseudo 2305427 RPL7P18 ribosomal protein L7 pseudogene 18 19123937 100270852 NG_009976,AC008534 RPL7_7_596 pseudo 2305426 RPL7P19 ribosomal protein L7 pseudogene 19 19123937 100270853 NG_009983,AC113403 RPL7_9_617 pseudo 1348758 RPL7P2 ribosomal protein L7 pseudogene 2 140695 NG_000981,AL359916 bA550O8.1 pseudo 2304976 RPL7P20 ribosomal protein L7 pseudogene 20 19123937 728843 NG_010025,AC008499 RPL7_8_636 pseudo 2304626 RPL7P21 ribosomal protein L7 pseudogene 21 19123937 729123 NG_010188,AC091925,CH471062 EAW61874 RPL7_10_623 pseudo 2305224 RPL7P22 ribosomal protein L7 pseudogene 22 19123937 728620 NG_009670,AC063979 RPL7_6_574 pseudo 2305909 RPL7P23 ribosomal protein L7 pseudogene 23 19123937,11181995 648000 NG_010343,AC108173,CH471084 EAW95808 RPL7_7_580 pseudo 2304385 RPL7P24 ribosomal protein L7 pseudogene 24 19123937 100127893 NG_010787,AC008771 RPL7_8_586 pseudo 2305534 RPL7P25 ribosomal protein L7 pseudogene 25 19123937 100129061 NG_009529,AL031577 FLJ32402|RPL7_12_684 pseudo 2305500 RPL7P26 ribosomal protein L7 pseudogene 26 19123937 728380 NG_009536,AL034372,AL138824 RPL7_9_661 pseudo 2305661 RPL7P27 ribosomal protein L7 pseudogene 27 19123937 643906 NG_010353,AL049545 RPL7_11_720 pseudo 2305693 RPL7P28 ribosomal protein L7 pseudogene 28 19123937 442242 NG_011375,AL359711 RPL7_12_736 pseudo 2305656 RPL7P29 ribosomal protein L7 pseudogene 29 19123937 643971 NG_010680,AL157777 RPL7_13_721 pseudo 1346184 RPL7P3 ribosomal protein L7 pseudogene 3 140857 NG_001005,AL449263 dJ353C17.2 pseudo 2305320 RPL7P30 ribosomal protein L7 pseudogene 30 19123937 100270908 NG_010316,AC004907,CH236949 RPL7_13_818 pseudo 2305319 RPL7P31 ribosomal protein L7 pseudogene 31 19123937 100270909 NG_010320,AC005492 RPL7_14_803 pseudo 2305748 RPL7P32 ribosomal protein L7 pseudogene 32 19123937 100130892 NG_010411,AC005058,CH236947 AAD08846,O95036 RPL7P|RPL7_15_834 pseudo 2305666 RPL7P33 ribosomal protein L7 pseudogene 33 19123937 286348 NG_010731,AL390246 RPL7_16_965 pseudo 2305524 RPL7P34 ribosomal protein L7 pseudogene 34 19123937 389992 NG_010538,AL139406,CH471066 EAW50164 RPL7_14_1078 pseudo 2304948 RPL7P35 ribosomal protein L7 pseudogene 35 19123937 100271216 NG_010577,AL359260 RPL7_15_1095 pseudo 2304946 RPL7P36 ribosomal protein L7 pseudogene 36 19123937 100271218 NG_010586,AL590036 RPL7_18_1089 pseudo 2305663 RPL7P37 ribosomal protein L7 pseudogene 37 19123937 439954 NG_010766,AL356093 RPL7_17_1035 pseudo 2305637 RPL7P38 ribosomal protein L7 pseudogene 38 19123937 120872 NG_010219,AC074272 RPL7_24_1261 pseudo 2304947 RPL7P39 ribosomal protein L7 pseudogene 39 19123937 100271217 NG_010581,AC078815 RPL7_16_1250 pseudo 1348113 RPL7P4 ribosomal protein L7 pseudogene 4 19123937 100133037 NG_009564,AB088099,AL662797,AL662848,AL845353,BX908728,BX927283,CR759873,CR788240,CR936878 Em:AB023049.2|KIAA1949|RPL7_10_678 pseudo 2304945 RPL7P40 ribosomal protein L7 pseudogene 40 19123937 100271220 NG_010600,AC092793 RPL7_19_1215 pseudo 2304943 RPL7P41 ribosomal protein L7 pseudogene 41 19123937 100271222 NG_010611,AC107016 RPL7_21_1238 pseudo 2304942 RPL7P42 ribosomal protein L7 pseudogene 42 19123937 100271223 NG_010616,AC090061 RPL7_22_1255 pseudo 2304941 RPL7P43 ribosomal protein L7 pseudogene 43 19123937 100271224 NG_010619,AC107032 RPL7_23_1260 pseudo 2304989 RPL7P44 ribosomal protein L7 pseudogene 44 19123937 390413 NG_010043,AC001226 RPL7_17_1325 pseudo 2304940 RPL7P45 ribosomal protein L7 pseudogene 45 19123937 100271225 NG_010625,AL355552 RPL7_25_1334 pseudo 2304987 RPL7P46 ribosomal protein L7 pseudogene 46 19123937 642451 NG_010773,AC007014 RPL7_26_1472 pseudo 2304423 RPL7P47 ribosomal protein L7 pseudogene 47 19123937 146110 NG_004804,AC010601 RPL7_27_1478 pseudo 2304511 RPL7P48 ribosomal protein L7 pseudogene 48 19123937 388401 NG_010260,AC005883 RPL7_19_1558 pseudo 2304944 RPL7P49 ribosomal protein L7 pseudogene 49 19123937 100271221 NG_010606,AC015802 RPL7_20_1575 pseudo 2303448 RPL7P5 ribosomal protein L7 pseudogene 5 19123937 654381 NG_009530,AC103967 RPL7_18_1464 pseudo 2304386 RPL7P50 ribosomal protein L7 pseudogene 50 19123937 729449 NG_010543,AC008760 RPL7_28_1618 pseudo 2304939 RPL7P51 ribosomal protein L7 pseudogene 51 19123937 100271226 NG_010631,AC018755 RPL7_29_1664 pseudo 2305360 RPL7P52 ribosomal protein L7 pseudogene 52 19123937 646912 NG_009750,AL031589 RPL7_21_1751 pseudo 2305047 RPL7P53 ribosomal protein L7 pseudogene 53 19123937 100271145 NG_010222,AL450108 RPL7_30_1785 pseudo 2305046 RPL7P54 ribosomal protein L7 pseudogene 54 19123937 100271146 NG_010226,AL590083 RPL7_31_1789 pseudo 2305045 RPL7P55 ribosomal protein L7 pseudogene 55 19123937 100271147 NG_010232,AL157382 RPL7_32_1793 pseudo 2304856 RPL7P56 ribosomal protein L7 pseudogene 56 19123937 728962 NG_010676,AL683813 RPL7_33_1817 pseudo 2305812 RPL7P57 ribosomal protein L7 pseudogene 57 19123937 643507 NG_010930,AL022578 RPL7_22_1777 pseudo 1605905 RPL7P6 ribosomal protein L7 pseudogene 6 19123937 90193 NG_005389,AC092828 RPL7_20_1216 pseudo 2304983 RPL7P7 ribosomal protein L7 pseudogene 7 19123937 644896 NG_005688,AL357552 RPL7_1_7 pseudo 2305847 RPL7P8 ribosomal protein L7 pseudogene 8 19123937 441896 NG_010218,AC000031,AL355310 RPL7_2_84 pseudo 2305580 RPL7P9 ribosomal protein L7 pseudogene 9 19123937,11181995 653702 NG_007184,AL357150,CH471097 EAW73011 RPL7_3_75 pseudo 735772 RPL8 ribosomal protein L8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 724582 7506540,15189156,14567916,16169070,15635413,15592455,15489334,14743216,12962325,12477932,11875025,11790298,9582194,9531480,8722009,19449377 724582 6132 CR601765,CR603238,CR604065,CR604122,CR605549,CR606016,CR607220,CR610036,CR611740,CR612339,CR614597,CR614795,CR615771,CR619989,CR623386,CR623747,CR624942,CR625112,CR625384,CR626383,Z28407,NM_033301,AB007168,AB061821,AF235103,CH471162,AK289459,AK301073,AK309619,BC000047,BC000077,BC012197,BC013104,BC030151,BC093064,BT007379,CR457046,CR590177,CR590460,CR592009,CR595000,CR595877,CR596459,CR599063,CR599190,CR599267,CR601133,CR601648,NM_000973 CAA82248,P62917,ABM84235,ABW03354,NP_000964,NP_150644,BAA25829,BAB79459,EAW82047,EAW82048,EAW82049,EAW82050,EAW82051,EAW82052,EAW82053,EAW82054,BAF82148,BAG62679,AAH00047,AAH00077,AAH12197,AAH13104,AAH93064,AAP36043,CAG33327 Hs.178551 60S ribosomal protein L8 protein-coding 1349022 RPL8P1 ribosomal protein L8 pseudogene 1 387046 NG_009559,AL031229 RPL2p|RPL8P|dJ15D7.1 pseudo 1344976 RPL8P2 ribosomal protein L8 pseudogene 2 100128766 NG_009886,AP000884 pseudo 2305425 RPL8P3 ribosomal protein L8 pseudogene 3 19123937 100270854 NG_009991,AC021074 RPL8_1_413 pseudo 2305368 RPL8P4 ribosomal protein L8 pseudogene 4 19123937 402150 NG_011184,AC069218 RPL8_1_438 pseudo 2305173 RPL8P5 ribosomal protein L8 pseudogene 5 19123937 100271044 NG_011013,AC000078 RPL8_2_1740 pseudo 736467 RPL9 ribosomal protein L9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 8597601,15189156,18029348,14567916,16341674,16189514,15635413,15489334,12477932,11790298,9582194,8722009,8415001,16169070 6133 NM_000661,NM_001024921,AB007169,AC021148,CH471069,U09954,AB062431,AK130966,AK297178,AK303908,AK312241,AL832047,AY320412,AY376242,AY597415,CR605134,CR605562,CR608917,CR620053,CR625200,D14531,D16961,U09953,U21138,BC000483,BC004156,BC004206,BC007967,BC012149,BC031906,BC066318,BC070214,BC100285,BG829769,BM841336,BQ286041,CR592704,CR593616,CR595992,CR596023,CR604645,CR604940 NP_000652,NP_001020092,BAA25830,EAW92926,EAW92927,EAW92928,EAW92929,EAW92930,EAW92931,AAB01041,BAB93494,BAG59670,BAG64837,BAG35174,CAH10410,AAP73811,AAQ82909,BAA03401,AAB01040,AAA63752,P32969,Q53Z07,Q69YS1,ABM83653,ABM83885,ABM86900,AAH00483,AAH04156,AAH04206,AAH07967,AAH12149,AAH31906,AAH66318,AAH70214,AAI00286 Hs.412370,Hs.513083,Hs.655427,Hs.725117 DKFZp313J1510|FLJ27456|MGC15545|NPC-A-16|RPL9P7|RPL9P8|RPL9P9 60S ribosomal protein L9|OTTHUMP00000218427|OTTHUMP00000218428|OTTHUMP00000218429 protein-coding 1348949 RPL9P1 ribosomal protein L9 pseudogene 1 8597601 6126 NG_001192,U09955,AC131011 RPL9L1 pseudo 2305424 RPL9P10 ribosomal protein L9 pseudogene 10 19123937 100270855 NG_009998,AL122008 RPL9_2_176 pseudo 2304633 RPL9P11 ribosomal protein L9 pseudogene 11 19123937 642740 NG_006150,AL954705,AK130277 BAC85318,Q6ZP07 Hs.661110 RPL9_1_9 pseudo 2305450 RPL9P12 ribosomal protein L9 pseudogene 12 19123937 100270825 NG_011199,AL139156 RPL9_1_50 pseudo 2305423 RPL9P13 ribosomal protein L9 pseudogene 13 19123937 100270856 NG_010007,AC012497 RPL9_2_278 pseudo 2304964 RPL9P14 ribosomal protein L9 pseudogene 14 19123937 100132061 NG_011145,AC093698 RPL9_3_318 pseudo 2305422 RPL9P15 ribosomal protein L9 pseudogene 15 19123937 100270857 NG_010012,AC117485 RPL9_4_422 pseudo 2305680 RPL9P16 ribosomal protein L9 pseudogene 16 19123937 727835 NG_010139,AC080188 RPL9_3_534 pseudo 2305351 RPL9P17 ribosomal protein L9 pseudogene 17 19123937 728523 NG_011050,AC010469 RPL9_5_548 pseudo 2305707 RPL9P18 ribosomal protein L9 pseudogene 18 19123937 389404 NG_010148,AL513043 RPL9_6_709 pseudo 2304975 RPL9P19 ribosomal protein L9 pseudogene 19 19123937 100129634 NG_010510,AC009500,CH236948 RPL9_4_783 pseudo 1351822 RPL9P2 ribosomal protein L9 pseudogene 2 9027492,19123937 729004 NG_009558,AC005517 RPL9_10_1518 pseudo 2304347 RPL9P20 ribosomal protein L9 pseudogene 20 19123937 100130392 NG_010461,AC079193 RPL9_7_879 pseudo 2305501 RPL9P21 ribosomal protein L9 pseudogene 21 19123937 728374 NG_010286,AL355141 RPL9_8_1037 pseudo 2304480 RPL9P22 ribosomal protein L9 pseudogene 22 19123937 100130066 NG_010079,AP000852 RPL9_6_1163 pseudo 2305672 RPL9P23 ribosomal protein L9 pseudogene 23 19123937 100131020 NG_011057,AC021006 RPL9_5_1139 pseudo 2305172 RPL9P24 ribosomal protein L9 pseudogene 24 19123937 100271045 NG_011017,AC084398 RPL9_7_1272 pseudo 2305109 RPL9P25 ribosomal protein L9 pseudogene 25 19123937 654350 NG_010052,AC055855 RPL9_13_1445 pseudo 2304938 RPL9P26 ribosomal protein L9 pseudogene 26 19123937 100271227 NG_010635,AC135999 RPL9_11_1421 pseudo 2305600 RPL9P27 ribosomal protein L9 pseudogene 27 19123937 100131246 NG_010904,AC013356 RPL9_12_1427 pseudo 2304624 RPL9P28 ribosomal protein L9 pseudogene 28 19123937 729146 NG_009675,AC091179 RPL9_16_1554 pseudo 2305339 RPL9P29 ribosomal protein L9 pseudogene 29 19123937 100129357 NG_010416,AC022966 RPL9_17_1576 pseudo 2303465 RPL9P3 ribosomal protein L9 pseudogene 3 19123937 641616 NG_009539,AL121594 RPL9_8_1354 pseudo 2305647 RPL9P30 ribosomal protein L9 pseudogene 30 19123937 100128710 NG_011028,AC104982 RPL9_11_1536 pseudo 2304937 RPL9P31 ribosomal protein L9 pseudogene 31 19123937 100271228 NG_010640,AC104971 RPL9_12_1606 pseudo 2305679 RPL9P32 ribosomal protein L9 pseudogene 32 19123937 727865 NG_010302,AC008507 RPL9_18_1643 pseudo 2304936 RPL9P33 ribosomal protein L9 pseudogene 33 19123937 100271229 NG_010645,AC018755 RPL9_13_1663 pseudo 2303464 RPL9P4 ribosomal protein L9 pseudogene 4 19123937 644223 NG_009540,AL163973 RPL9_9_1348 pseudo 2301777 RPL9P5 ribosomal protein L9 pseudogene 5 19123937 100129179 NG_008795,AL135752 RPL9_9_1374 pseudo 1345128 RPL9P6 ribosomal protein L9 pseudogene 6 19123937 326311 NG_002563,AL160192 RPL9_10_1398 pseudo 1347716 RPL9P7 ribosomal protein L9 pseudogene 7 19123937,8597601 317771 NG_002471,AC131011 RPL9_19_1768 pseudo 1606671 RPL9P8 ribosomal protein L9 pseudogene 8 19123937,9847074,8597601 254948 NG_002468,AC011295 RPL9_15_1459 pseudo 2303839 RPL9P9 ribosomal protein L9 pseudogene 9 19123937 388147 NG_003190,AC139425 RPL9_14_1458 pseudo 1344368 RPLP0 ribosomal protein, large, P0 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 9847074,9582194,9373149,8722009,8125298,7821789,6182142,1602151,11277934,3323886,15303970,15189156,18029348,14567916,18364388,17621266,17081983,16807684,16565220,16541075,16169070,15592455,15489334,15336536,15302935,15231748,15121898,14729942,14702039,12479870,12477932,11790298,11401437,10856704,17289661,17643375,19710015,19188445 6175 NM_001002,AB007187,AC004263,CH471054,NM_053275,AF274958,AK001313,AK129754,AK129823,AK222468,AK222571,AK291109,AK304674,BC000087,BC000345,BC000752,BC001127,BC001834,BC003655,BC005863,BC008092,BC008594,BC009867,BC015173,BC015690,BC019014,BC070194,BC104645,BC107717,BF131912,CR597824,CR599043,CR600402,CR602521,CR613873,CR625036,D28418,M17885 NP_444505,NP_000993,BAA25845,AAC05176,EAW98170,EAW98171,EAW98172,EAW98173,EAW98174,AAK07533,BAD96188,BAD96291,BAF83798,BAG65447,AAH00087,AAH00345,AAH00752,AAH01127,AAH01834,AAH03655,AAH05863,AAH08092,AAH08594,AAH09867,AAH15173,AAH15690,AAH70194,AAI04646,AAI07718,BAA05784,AAA36470,P05388,Q3B7A4,Q3MHV2,Q53HK9,Q53HW2,Q6NSF2,Q9BZT1,ABM82739,ABM85922 Hs.546285 L10E|MGC111226|MGC88175|P0|PRLP0|RPP0 60S acidic ribosomal protein P0|60S ribosomal protein L10E|acidic ribosomal phosphoprotein P0 protein-coding 1344936 RPLP0P1 ribosomal protein, large, P0 pseudogene 1 128745 NG_000973,AL049794 dJ777L9.2 pseudo 2304871 RPLP0P10 ribosomal protein, large, P0 pseudogene 10 19123937 390578 NG_010925,AC020658 RPLP0_5_1426 pseudo 2305226 RPLP0P11 ribosomal protein, large, P0 pseudogene 11 19123937 647094 NG_010949,AC090638 RPLP0_4_1600 pseudo 1347599 RPLP0P2 ribosomal protein, large, P0 pseudogene 2 19123937,14702039,12477932 113157 NR_002775,AP002754,AK095332,AY672101,BC010523 Hs.502733 RPLP0L2|RPLP0_3_1146 pseudo 2303346 RPLP0P3 ribosomal protein, large, P0 pseudogene 3 19123937 122589 NG_009485,AL133163,CR612178 Hs.540051 RPLP0_4_1355 pseudo 2304373 RPLP0P4 ribosomal protein, large, P0 pseudogene 4 19123937,19023099,17975119 391102 NG_010984,AL161636 RPLP0_1_100 pseudo 2305728 RPLP0P5 ribosomal protein, large, P0 pseudogene 5 19123937 643779 NG_011009,AL451081,CR621923 RPLP0_1_167 pseudo 2304376 RPLP0P6 ribosomal protein, large, P0 pseudogene 6 19123937,18029348 220717 NG_009952,AC011247,AY064377,CH471053,CR604868,CR618279,CR619416,CR625189,CR590779,CR591057,CR591588,CR592068,CR594126,CR595485,CR595548,CR595846,CR596098,CR596846,CR599461,CR599619,CR599753,CR599800,CR602073,CR602867,CR604592,CR604842,CR605461,CR606552,CR606978,CR607008,CR607584,CR609713,CR610786,CR611006,CR612842,CR613558,CR615233,CR616602,CR617647,CR619170,CR619526,CR619984,CR623258,CR623941,CR624999,CR625715 AAL62450,EAX00373 Hs.727535,Hs.448226 RPLP0_2_209 pseudo 2305171 RPLP0P7 ribosomal protein, large, P0 pseudogene 7 19123937 100271047 NG_011029,AC021849 RPLP0_2_288 pseudo 2305643 RPLP0P8 ribosomal protein, large, P0 pseudogene 8 19123937 100131151 NG_010425,AC096922 RPLP0_3_381 pseudo 736952 RPLP1 ribosomal protein, large, P1 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 3323886,12054647,15189156,18029348,14567916,18422483,17081983,16964243,16807684,16565220,16169070,16097034,16094384,15489334,14997482,14729942,12479870,12477932,11875025,11401437,10856704,8722009,7821789,11277934,16541025,18675807 6176 NM_001003,NM_213725,AB061836,AC027237,CH471082,AK026579,AK130958,AY303789,BC003369,BC007590,BM745938,CR450339,CR542209,CR595749,CR597116,CR597881,CR598265,CR602613,CR603914,CR611187,CR614011,CR615773,CR616118,CR622341,CR623515,D28366,M17886 NP_000994,NP_998890,BAB79474,EAW77843,EAW77844,EAW77845,AAP68820,AAH03369,AAH07590,CAG29335,CAG47005,BAA05732,AAA36471,P05386,Q6FG99,Q6ICQ4,Q7Z612,Q8WYZ7 Hs.356502 FLJ27448|MGC5215|P1|RPP1 60S acidic ribosomal protein P1|acidic ribosomal phosphoprotein P1 protein-coding 1343443 RPLP1P1 ribosomal protein, large, P1 pseudogene 1 19123937 145499 NG_002526,AC007686 RPLP1_4_1394 pseudo 2304802 RPLP1P10 ribosomal protein, large, P1 pseudogene 10 19123937 100271346 NG_011249,AC016398 RPLP1_6_1047 pseudo 2305668 RPLP1P11 ribosomal protein, large, P1 pseudogene 11 19123937 100131087 NG_010056,AC002553 RPLP1_5_1519 pseudo 2305582 RPLP1P12 ribosomal protein, large, P1 pseudogene 12 19123937 646566 NG_010867,AC008753 RPLP1_6_1670 pseudo 2304625 RPLP1P2 ribosomal protein, large, P1 pseudogene 2 19123937 729138 AL590682,NG_006638 RPLP1_2_185 pseudo 2304401 RPLP1P3 ribosomal protein, large, P1 pseudogene 3 19123937 127099 NG_010637,AL031864 RPLP1_1_124 pseudo 2305535 RPLP1P4 ribosomal protein, large, P1 pseudogene 4 19123937 100129028 AC016739,NG_009587 RPLP1_3_298 pseudo 2305560 RPLP1P5 ribosomal protein, large, P1 pseudogene 5 19123937 130678 NG_010614,AC113608,CH471053 EAX00892 RPLP1_1_196 pseudo 2304387 RPLP1P6 ribosomal protein, large, P1 pseudogene 6 19123937,11181995 729416 NG_005982,AC091982,CH471062 EAW61665 RPLP1_5_629 pseudo 2304993 RPLP1P7 ribosomal protein, large, P1 pseudogene 7 19123937,11181995 133609 NG_006940,AC099513,CH471086 EAW48849 RPLP1_4_611 pseudo 2305646 RPLP1P8 ribosomal protein, large, P1 pseudogene 8 19123937 100128745 NG_011205,AL023284 RPLP1_2_758 pseudo 2305170 RPLP1P9 ribosomal protein, large, P1 pseudogene 9 19123937 100271049 NG_011038,AC091675 RPLP1_3_885 pseudo 735289 RPLP2 ribosomal protein, large, P2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 14567916,18422483,17081983,16964243,16920697,16807684,16565220,15635413,15489334,15146197,14997482,14981896,14729942,12479870,12477932,12379128,11875025,11401437,10856704,10508479,8722009,8076819,7821789,2153399,1286669,3323886,15189156,20385603,18675807 6181 NM_001004,AB061837,AP006621,CH471158,AK311954,BC005354,BC005920,BC007573,BC062314,CN270352,CR542212,CR542248,CR590110,CR595853,CR618265,D17005,D17174,D28411,M17887 NP_000995,BAB79475,EAX02393,EAX02394,BAG34894,AAH05354,AAH05920,AAH07573,AAH62314,CAG47008,CAG47044,BAA05777,AAA36472,P05387,Q6FG96 Hs.437594 D11S2243E|MGC71408|P2|RPP2 60S acidic ribosomal protein P2|acidic ribosomal phosphoprotein P2|renal carcinoma antigen NY-REN-44|ribosomal protein, large p2 protein-coding 1345554 RPLP2P1 ribosomal protein, large P2, pseudogene 1 19123937 442175 NG_010333,AL133267,CH471081 EAX03128 RPLP2_1_671|dJ408B20.3 pseudo 2305586 RPLP2P2 ribosomal protein, large, P2 pseudogene 2 19123937 644198 NG_010527,AC008677 RPLP2_1_633 pseudo 2305659 RPLP2P3 ribosomal protein, large, P2 pseudogene 3 19123937 643949 NG_010565,AP001024 RPLP2_2_1170 pseudo 2304801 RPLP2P4 ribosomal protein, large, P2 pseudogene 4 19123937 100271347 NG_011258,AC023050 RPLP2_3_1225 pseudo 2304800 RPLP2P5 ribosomal protein, large, P2 pseudogene 5 19123937 100271348 NG_011348,AC008026 RPLP2_4_1568 pseudo 731637 RPN1 ribophorin I This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq] 1580863 15835887,17353931,19167329,18607003,17081065,16713569,10660554,15489334,12887896,12643545,12477932,12200120,12198498,10737800,9373149,9307271,8125298,3034581,12840049,16169070,16990800,19064571,19596235,19615732 6184 NM_002950,AC079945,CH471052,CQ834258,CQ834296,AK223595,AK296905,AK297513,AK297941,AK312369,BC007995,BC010839,BF930946,BG720812,CR456742,CR621594,CR749284,Y00281 NP_002941,EAW79306,EAW79307,EAW79308,EAW79309,CAH05344,CAH05363,BAD97315,BAG59461,BAH12600,BAG60257,BAG35287,AAH07995,AAH10839,CAG33023,CAH18139,CAA68392,P04843,Q53EP4,Q6IBR0,Q96HX3 Hs.518244,Hs.603636 DKFZp686B16177|OST1|RBPH1 OTTHUMP00000216575|RPN-I|dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1|dolichyl-diphosphooligosaccharide-protein glycosyltransferase 67 kDa subunit|oligosaccharyltransferase 1 homolog|ribophorin-1 protein-coding 732277 RPN2 ribophorin II This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,15835887,17220478,17353931,10660554,15489334,14702039,12887896,12665801,12477932,11780052,10737800,9642163,3034581,2066112,1301181,16169070,16990800,18724378,19549781,19615732,19617345,19668339,20379614,20471946,20562859 6185 NM_002951,BF923732,BG718075,CR456899,CR598008,CR600686,CR604664,CR614309,CR619834,CR626786,DB449190,Y00282,AJ237734,AL031659,CH471077,AK096243,AK296126,AK308683,AK315801,BC002380,BC003560,BC013028,BC020222,NM_001135771 NP_002942,AAH20222,CAG33180,CAA68393,P04844,Q5JYR4,Q5JYR6,Q5JYR7,ABM83273,ABM86478,NP_001129243,CAB54801,CAB41763,CAI42667,CAI42668,CAI42670,CAI42671,CAI42672,EAW76073,EAW76074,EAW76075,EAW76076,EAW76077,BAG53237,BAG58872,BAG38143,AAH02380,AAH03560,AAH13028 Hs.370895 RIBIIR|RPN-II|RPNII|SWP1 dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2|ribophorin 2|ribophorin-2 2316342 GLUCO236_H protein-coding 1313464 RPP14 ribonuclease P/MRP 14kDa subunit 1580863 10024167,15096576,16344560,15635413,15489334,15342556,15146197,14702039,12477932,11929972,11455963,11181995,11158571,16169070 11102 NM_001098783,NM_007042,AC098479,CH471055,AF001175,AI566526,AK311396,AK311969,BC002441,BC007342,BC012017,BP352480,CN354601,CR407611,CR593615,CR607469,CR622586,DA040251,DC360931 NP_001092253,NP_008973,AAD00892,BAG34908,AAH02441,AAH07342,AAH12017,CAG28539,O95059 Hs.446320,Hs.700016 FLJ31508|P14 ribonuclease P (14kD)|ribonuclease P 14kDa subunit|ribonuclease P protein subunit p14|ribonuclease p 14kda subunit protein-coding 1346051 RPP21 ribonuclease P/MRP 21kDa subunit RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM] 16344560,15096576,17601797,15489334,14702039,12477932,11497433,11455963,18291362,19851445,17207965 79897 BG708140,BI598757,DA270919,NM_001199120,NM_001199121,AL662795,AL662832,AL773535,BX294158,CH471081,NM_024839,AF212152,AJ504713,AJ504714,AJ504715,AJ504716,AK026291,BC011730,CR594375,BX927214,CR759281,CR759928 NP_001186049,NP_001186050,NP_079115,CAI18254,CAI18255,CAI18256,CAI17503,CAI17506,CAI17507,CAI41820,CAI41822,CAI41823,CAI41824,CAM25886,CAM25887,CAM25888,CAM25889,EAX03287,EAX03288,EAX03289,AAK39955,CAD44289,CAD44290,CAD44291,CAD44292,BAB15433,AAH11730,Q5JPM0,Q5JPM3,Q9H633,ADQ32798 Hs.183232 C6orf135|CAT60|FLJ22638 RNaseP protein p21|ribonuclease P protein subunit p21|ribonuclease p 21kda subunit|ribonucleoprotein V protein-coding 1313231 RPP25 ribonuclease P/MRP 25kDa subunit 737633,1580863 15096576,16344560,15489334,14702039,12477932,12003489,20215441,17207965,20632321 737633 54913 NM_017793,AC015720,CH471136,AK000381,AY034074,BC002497,BC007270,BE254727,CR594166,CR595106,CR600222,CR608482,CR619276,CR619953,CR620648,CR623184,DA041068 NP_060263,EAW99285,EAW99286,BAA91128,AAK54443,AAH02497,AAH07270,Q9BUL9,ADQ32678 Hs.8562 FLJ20374 RNase P protein subunit p25|ribonuclease P 25kDa subunit|ribonuclease P protein subunit p25|ribonuclease p 25kda subunit protein-coding 1321878 RPP30 ribonuclease P/MRP 30kDa subunit 1580863 15096576,9630247,17081983,17033964,16344560,15635413,15489334,15164054,14702039,12477932,11455963,9373149,9308968,9037013,8889548,8125298,16385451 10556 NM_006413,AL360011,AL590622,CH471066,AK095810,AK225532,AK296196,AK312900,AL833628,BC006991,BC044601,BM978236,NM_001104546,CR591791,CR610035,CR618623,DB049454,U77665 NP_001098016,NP_006404,CAC70100,CAH72456,CAH72457,EAW50117,BAG58925,BAG35746,AAH06991,AAC51143,P78346,Q5VU10,ABM84107,ABM87487 Hs.139120 FLJ38491|RP11-320F15.1|TSG15 OTTHUMP00000020082|OTTHUMP00000020083|RNase P subunit 2|RNaseP protein p30|ribonuclease P (30kD) (RPP30)|ribonuclease P protein subunit p30 protein-coding 1316690 RPP38 ribonuclease P/MRP 38kDa subunit 15164054,14702039,12477932,11455963,10444065,9373149,9037013,8125298,15342556,15096576,17474147,9630247,15635413,15489334,17207965,16385451 10557 NM_183005,NM_001097590,NM_006414,AL590365,CH471072,AK057006,AK223418,AW292674,BC029494,BP247818,CR541816,CR600741,CX787861,CX872398,U77664 NP_892117,NP_001091059,NP_006405,CAH73967,CAH73968,EAW86240,EAW86241,BAG51842,BAD97138,AAH29494,CAG46615,AAC51142,P78345,Q5VUC3,ADQ31649 Hs.94986 RP11-455B2.5 OTTHUMP00000019204|RNaseP protein p38|ribonuclease P (38kD) (RPP38)|ribonuclease P protein subunit p38 protein-coding 1321008 RPP40 ribonuclease P/MRP 40kDa subunit 1580863 15096576,9630247,12477932,8889548 10799 NM_006638,AL359643,CH471087,U94317,BC017871,BG430780,BU607286,CR590977 NP_006629,CAH73739,CAH73740,EAW55170,EAW55171,EAW55172,EAW55173,EAW55174,AAC24114,AAH17871,O75818,Q5VX98 Hs.511756 RNASEP1|bA428J1.3 OTTHUMP00000015983|OTTHUMP00000213852|RNase P subunit 1|RNaseP protein p40|ribonuclease P (40 kD)|ribonuclease P 40kDa subunit|ribonuclease P protein subunit p40|ribonuclease P, 40kD subunit|ribonuclease P1 protein-coding 1344011 RPPH1 ribonuclease P RNA component H1 H1RNA is the RNA component of the RNase P ribonucleoprotein, an endoribonuclease that cleaves tRNA precursor molecules to form the mature 5-prime termini of their tRNA sequences (Baer et al., 1989 [PubMed 2308839]).[supplied by OMIM] 7916700,2470644,2308839,15096576 85495 NR_002312,AL355075,X16612,X15624 Hs.613102 H1RNA miscrna 1605654 RPRD1A regulation of nuclear pre-mRNA domain containing 1A P15RS is upregulated in cells overexpressing cyclin-dependent kinase inhibitor p15(INK4b) (CDKN2B; MIM 600431) and may have a role in cell cycle regulation (Liu et al., 2002 [PubMed 12470661]).[supplied by OMIM] 14702039,12477932,12470661,20739273 55197 AC091060,CH471088,AF419845,AK001518,AK292907,AK314569,BC000225,BC010136,CR590094,CR590908,CR612452,CR617134,NM_018170 ABM83836,ABW03521,NP_060640,EAX01365,EAX01366,EAX01367,EAX01368,EAX01369,EAX01370,AAL15972,BAA91736,BAF85596,BAG37150,AAH00225,AAH10136,Q96P16 Hs.464912 FLJ10656|HsT3101|MGC19513|P15RS Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)|cyclin-dependent kinase 2B-inhibitor-related protein|p15INK4B-related protein|regulation of nuclear pre-mRNA domain-containing protein 1A protein-coding 1312424 RPRD1B regulation of nuclear pre-mRNA domain containing 1B 16189514,15489334,15342556,15302935,14702039,12477932,11780052 58490 NM_021215,AL109823,CH471077,AK092567,AK126484,AK312468,AL080224,AL117521,BC001696,BC020939,BC033629,BP359144,DQ372938 NP_067038,CAC01532,CAM27269,EAW76045,EAW76046,BAG35375,CAH10720,AAH01696,AAH33629,ABD34791,Q69YY7,Q9NQG5 Hs.727551 C20orf77|CREPT|DKFZp434P0735|FLJ44520|NET60|dJ1057B20.2 cell cycle-related and expression-elevated protein in tumor|cell-cycle related and expression-elevated protein in tumor|regulation of nuclear pre-mRNA domain-containing protein 1B protein-coding 1601883 RPRD2 regulation of nuclear pre-mRNA domain containing 2 15231747,17081983,16964243,16710414,15489334,14702039,12477932,12168954,9455484 23248 BX284695,CH471121,AB007929,AF161362,AK022984,AK026120,AK056707,AK125864,AK291703,AK304380,AK308148,BC045623,BX641025,DC369862,NM_015203,AL356356,AL611942 CAH70315,CAI17373,CAI17374,EAW53551,EAW53552,EAW53553,EAW53554,EAW53555,BAA32305,AAF28922,BAG51793,BAF84392,BAG65218,AAH45623,CAE46016,Q5VT52,ACE87632,ACE87664,ACE86944,ACE86975,CAH70314,NP_056018,CAI15496,CAI15497,CAH70313 Hs.213666 FLJ32145|HSPC099|KIAA0460 regulation of nuclear pre-mRNA domain-containing protein 2 protein-coding 1350669 RPRM reprimo, TP53 dependent G2 arrest mediator candidate 737633,1580863 19917725,17353931,10930422,18829507,18197409,16752411,16303743,15700311,12477932,12395409,17207965 737633 56475 NM_019845,AC012501,CH471058,CQ782742,AA452090,AB043585,AK074808,AK311958,BC002908,CR596780,CR609982,CR610159 NP_062819,AAY14783,EAX11467,CAF85975,BAB01513,BAG52007,BAG34898,AAH02908,Q9NS64,ADQ32830 Hs.100890 FLJ90327|REPRIMO candidate mediator of the p53 dependent G2 arrest|candidate mediator of the p53-dependent G2 arrest|protein reprimo|reprimo, TP53 dependant G2 arrest mediator candidate|reprimo, tp53 dependant g2 arrest mediator candidate protein-coding 1604446 RPRML reprimo-like 12477932 388394 NM_203400,AC005670,CH471231,BC033942,BC108690 NP_981945,EAW57693,AAH33942,AAI08691,Q8N4K4 Hs.367999 MGC131790|MGC43894 reprimo-like protein protein-coding 733640 RPS10 ribosomal protein S10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 20116044,20159986,17353931,15189156,12588972,8706699,15883184,7772601,19034380,16169070,15635413,15592455,15489334,15345747,12651107,12477932,11751223,11121577,9915854,9582194,8722009 6204 NG_023200,AB007151,BX255972,CH471081,AK311797,BC001032,BC001955,BC005012,BC070235,BC071946,BC073799,BE397113,CD385233,CR595593,CR597315,CR608357,CR608906,CR611902,CR622126,CR625630,U14972,Z70761,NM_001014,AB209165 NP_001005,BAA25817,CAH73100,CAH73101,EAX03782,EAX03783,EAX03784,BAG34740,AAH01032,AAH01955,AAH05012,AAH70235,AAH71946,AAH73799,AAA85660,CAA94807,P46783,Q14489,Q59GE4,BAD92402,ABM83060,ABM86254 Hs.406620,Hs.645317 DBA9|MGC88819 40S ribosomal protein S10|OTTHUMP00000016230 protein-coding 1348476 RPS10P1 ribosomal protein S10 pseudogene 1 19123937 394255 NG_001335,AL031777 RPS10_7_669|RPS10p|dJ34B20.13 pseudo 2305821 RPS10P10 ribosomal protein S10 pseudogene 10 19123937 389127 NG_010006,AC096915 RPS10_4_378 pseudo 2305701 RPS10P11 ribosomal protein S10 pseudogene 11 19123937 391833 NG_010811,AC109454 RPS10_6_615 pseudo 2305123 RPS10P12 ribosomal protein S10 pseudogene 12 19123937 133569 NG_011000,AC026798 RPS10_5_559 pseudo 2305506 RPS10P13 ribosomal protein S10 pseudogene 13 19123937 646785 NG_010670,AL139100 RPS10_8_685 pseudo 2305359 RPS10P14 ribosomal protein S10 pseudogene 14 19123937 646942 NG_009425,AC078843,CH236951 RPS10_9_805 pseudo 2305466 RPS10P15 ribosomal protein S10 pseudogene 15 19123937 654029 NG_011064,AC090114 RPS10_3_844 pseudo 2305169 RPS10P16 ribosomal protein S10 pseudogene 16 19123937 100271050 NG_011043,AC024329 RPS10_4_945 pseudo 2305841 RPS10P17 ribosomal protein S10 pseudogene 17 19123937 645857 NG_011162,AL354710 RPS10_5_1013 pseudo 2304799 RPS10P18 ribosomal protein S10 pseudogene 18 19123937 100271349 NG_011271,AL445237 RPS10_6_1108 pseudo 2304798 RPS10P19 ribosomal protein S10 pseudogene 19 19123937 100271350 NG_011275,AC024293 RPS10_7_1142 pseudo 1351811 RPS10P2 ribosomal protein S10 pseudogene 2 19123937 140758 NG_001001,AL118510 RPS10_15_1685|dJ858M22.1 pseudo 2304560 RPS10P20 ribosomal protein S10 pseudogene 20 19123937 100271547 NG_010964,AC089987 RPS10_11_1233 pseudo 2304797 RPS10P21 ribosomal protein S10 pseudogene 21 19123937 100271351 NG_011279,AL445923 RPS10_8_1322 pseudo 2305554 RPS10P22 ribosomal protein S10 pseudogene 22 19123937 401817 NG_010809,AC087385 RPS10_12_1442 pseudo 2305879 RPS10P23 ribosomal protein S10 pseudogene 23 19123937 645713 NG_011365,AC009153 RPS10_13_1498 pseudo 2304498 RPS10P24 ribosomal protein S10 pseudogene 24 19123937 645299 NG_009469,AC009022 RPS10_9_1493 pseudo 2304561 RPS10P25 ribosomal protein S10 pseudogene 25 19123937 100271546 NG_010960,AC069454 RPS10_10_1555 pseudo 2304559 RPS10P26 ribosomal protein S10 pseudogene 26 19123937 100271548 NG_010969,AC008026 RPS10_11_1569 pseudo 2305101 RPS10P27 ribosomal protein S10 pseudogene 27 19123937 100129556 NG_010092,AC067796 RPS10_12_1588 pseudo 2304611 RPS10P28 ribosomal protein S10 pseudogene 28 19123937 100132372 NG_010093,AC005204 RPS10_14_1658 pseudo 2311476 RPS10P29 ribosomal protein S10 pseudogene 29 388885 NG_009906,AP000354 pseudo 1602177 RPS10P3 ribosomal protein S10 pseudogene 3 19123937 158104 NG_009716,AL353572 RPS10_10_994 pseudo 2305708 RPS10P30 ribosomal protein S10 pseudogene 30 19123937 343851 NG_010234,AP000343 RPS10_14_1741 pseudo 2304617 RPS10P31 ribosomal protein S10 pseudogene 31 19123937 100129939 NG_010775,AL008718 RPS10_16_1758 pseudo 2303440 RPS10P4 ribosomal protein S10 pseudogene 4 19123937 728791 NG_009545,AC079944 RPS10_2_393|bcm1851 pseudo 1352265 RPS10P5 ribosomal protein S10 pseudogene 5 19123937,11780052 93144 NG_000952,AL118502 Q9NQ39,CAC00525 RPS10L|RPS10_13_1677|bA371L19.2 pseudo 2304407 RPS10P6 ribosomal protein S10 pseudogene 6 19123937 729374 NG_010156,AL365436 RPS10_1_98 pseudo 2304399 RPS10P7 ribosomal protein S10 pseudogene 7 19123937,14702039,12477932 376693 NR_026667,AC096677,AK055590,BC030568 Hs.605989 MGC45392|RPS10_2_147 pseudo 2305876 RPS10P8 ribosomal protein S10 pseudogene 8 19123937 729780 NG_010935,AL138899 RPS10_1_104 pseudo 2305716 RPS10P9 ribosomal protein S10 pseudogene 9 19123937 730187 NG_010404,AC007365 RPS10_3_235 pseudo 733888 RPS11 ribosomal protein S11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S17) is thought to be involved in the recognition of termination codons. This gene is co-transcribed with a small nucleolar RNA gene, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17353931,15189156,12588972,8706699,15883184,3267208,15489334,14743216,12477932,11790298,10580157,9582194,20139978,8722009,1697501,1577483 6205 NM_001015,AB007152,AB028893,AC010619,CH471177,AK311809,AV759412,BC007283,BC007603,BC007945,BC010028,BC010187,BC016378,BC018829,BC070224,BC100025,BF239060,CR591220,CR598342,CR603659,CR616168,CR619273,CR622474,X06617 NP_001006,BAA25818,BAA88215,EAW52497,BAG34752,AAH07283,AAH07603,AAH07945,AAH10028,AAH16378,AAH70224,AAI00026,CAA29834,P62280,ABM84151,ABM87554 Hs.433529 40S ribosomal protein S11 protein-coding 1349242 RPS11P1 ribosomal protein S11 pseudogene 1 19123937 128718 NG_000972,AL049690 RPS11_3_1684|dJ1060K6.1 ribosomal protein s11, pseudogene 1 pseudo 2305809 RPS11P2 ribosomal protein S11 pseudogene 2 19123937 645916 NG_010147,AL358176 RPS11_1_184 pseudo 2305382 RPS11P3 ribosomal protein S11 pseudogene 3 19123937 100270898 NG_010264,AL589765 RPS11_1_99 pseudo 2305168 RPS11P4 ribosomal protein S11 pseudogene 4 19123937 100271052 NG_011054,AL157884 RPS11_2_972 pseudo 2305682 RPS11P5 ribosomal protein S11 pseudogene 5 19123937 727826 NG_009555,AC127070 RPS11_3_1298 pseudo 2304488 RPS11P6 ribosomal protein S11 pseudogene 6 19123937 729258 NG_010888,AC135279 RPS11_2_1249 pseudo 2304744 RPS11P7 ribosomal protein S11 pseudogene 7 19123937 642687 NG_011374,AL592164 RPS11_4_1771 pseudo 735309 RPS12 ribosomal protein S12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 15189156,12588972,8706699,15883184,1861993,15635413,12477932,11875025,11870519,11790298,9582194,8722009,1712897,21150874,20098747,19615732 6206 NM_001016,AB007153,AB061840,AL137783,CH471051,AK311826,BC002550,BC017321,BC071930,BC095424,BQ276878,CR598965,CR608220,X53505 NP_001007,BAA25819,BAB79478,CAC12946,EAW48008,EAW48009,EAW48010,EAW48011,BAG34768,AAH17321,AAH71930,AAH95424,CAA37582,P25398 Hs.546289 40S ribosomal protein S12|OTTHUMP00000017230 protein-coding 1354074 RPS12P1 ribosomal protein S12 pseudogene 1 19123937 326312 NG_002564,AL442663 RPS12_13_1388 pseudo 2305164 RPS12P10 ribosomal protein S12 pseudogene 10 19123937 100271056 NG_011078,AC005215 RPS12_4_622 pseudo 2305690 RPS12P11 ribosomal protein S12 pseudogene 11 19123937 442270 NG_010833,AL356535 RPS12_6_769 pseudo 2305331 RPS12P12 ribosomal protein S12 pseudogene 12 19123937 100131761 NG_010922,AL023807 RPS12_5_662 pseudo 2305163 RPS12P13 ribosomal protein S12 pseudogene 13 19123937 100271057 NG_011081,AL445189 RPS12_5_735 pseudo 2305162 RPS12P14 ribosomal protein S12 pseudogene 14 19123937 100271058 NG_011085,AL358178 RPS12_6_698 pseudo 2305161 RPS12P15 ribosomal protein S12 pseudogene 15 19123937 100271059 NG_011090,AP002852 RPS12_7_934 pseudo 2304796 RPS12P16 ribosomal protein S12 pseudogene 16 19123937 100271352 NG_011286,AL138768 RPS12_7_1034 pseudo 2304795 RPS12P17 ribosomal protein S12 pseudogene 17 19123937 100271353 NG_011290,AL442635 RPS12_8_1057 pseudo 2304794 RPS12P18 ribosomal protein S12 pseudogene 18 19123937 100271354 NG_011294,BX248123,AC068139 RPS12P19|RPS12_8_1068|RPS12_9_1069 pseudo 2304793 RPS12P19 ribosomal protein S12 pseudogene 19 19123937 100271355 NG_011298,AC068139,BX248123 RPS12_9_1069 pseudo 2303480 RPS12P2 ribosomal protein S12 pseudogene 2 19123937 619448 NG_009566,AL513174 RPS12_9_1071|bA40F6.3 pseudo 2304558 RPS12P20 ribosomal protein S12 pseudogene 20 19123937 100271549 NG_010973,AP003065 RPS12_10_1153 pseudo 2304557 RPS12P21 ribosomal protein S12 pseudogene 21 19123937 100271550 NG_010980,AP002884 RPS12_11_1175 pseudo 2305627 RPS12P22 ribosomal protein S12 pseudogene 22 19123937 440055 NG_011284,AP001324 RPS12_10_1156 pseudo 2305768 RPS12P23 ribosomal protein S12 pseudogene 23 19123937 338870 NG_010945,AL161613 RPS12_11_1301 pseudo 2304556 RPS12P24 ribosomal protein S12 pseudogene 24 19123937 100271551 NG_010988,AL138711 RPS12_12_1308 pseudo 2305356 RPS12P25 ribosomal protein S12 pseudogene 25 19123937 646985 NG_010393,AC026826 RPS12_14_1457 pseudo 2305893 RPS12P26 ribosomal protein S12 pseudogene 26 19123937 100130495 NG_010991,AC091167 RPS12_12_1461 pseudo 2304555 RPS12P27 ribosomal protein S12 pseudogene 27 19123937 100271552 NG_010994,AC020978 RPS12_13_1490 pseudo 2304554 RPS12P28 ribosomal protein S12 pseudogene 28 19123937 100271553 NG_010999,AC005726 RPS12_14_1532 pseudo 2305538 RPS12P29 ribosomal protein S12 pseudogene 29 19123937 728244 NG_010933,AC091153 RPS12_15_1507 pseudo 2305485 RPS12P3 ribosomal protein S12 pseudogene 3 19123937 344423 NG_010533,AC010733 RPS12_2_223 pseudo 2304553 RPS12P30 ribosomal protein S12 pseudogene 30 19123937 100271555 NG_011007,AC100832 RPS12_15_1561 pseudo 2304403 RPS12P31 ribosomal protein S12 pseudogene 31 19123937 100130192 NG_010757,AC008474 RPS12_17_1644 pseudo 2304552 RPS12P32 ribosomal protein S12 pseudogene 32 19123937 100271556 NG_011015,AC008481 RPS12_16_1623 pseudo 2305890 RPS12P4 ribosomal protein S12 pseudogene 4 19123937 391370 NG_011048,AC009413,CH471053 EAX00328 RPS12_1_210 pseudo 2305167 RPS12P5 ribosomal protein S12 pseudogene 5 19123937 100271053 NG_011058,AC098650 RPS12_1_355 pseudo 2305166 RPS12P6 ribosomal protein S12 pseudogene 6 19123937 100271054 NG_011065,AC055731 RPS12_2_384 pseudo 2305165 RPS12P7 ribosomal protein S12 pseudogene 7 19123937 100271055 NG_011071,AC106707 RPS12_3_426 pseudo 2305367 RPS12P8 ribosomal protein S12 pseudogene 8 19123937 402184 NG_010010,AC093663 RPS12_4_508 pseudo 2305648 RPS12P9 ribosomal protein S12 pseudogene 9 19123937,9847074 727997 NG_007430,AC108161 RPS12_3_484 pseudo 737303 RPS13 ribosomal protein S13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17881366,12054647,15189156,12588972,8706699,15883184,8332508,17081983,15680243,15592455,15489334,15149863,14743216,12861018,12477932,11790298,11306805,9582194,8920921,8722009,2403345 6207 NM_001017,AC006597,AC116533,CH471064,D88010,AK312060,BC000475,BC006772,BC029732,BC066322,BC100032,L01124,L05090,X79239 NP_001008,EAW68448,BAA13528,BAG34996,AAH00475,AAH06772,AAH29732,AAH66322,AAI00033,AAA60283,AAC15854,CAA55821,P62277,ABM82033,ABM85214 Hs.446588 40S ribosomal protein S13 protein-coding 2305790 RPS13P1 ribosomal protein S13 pseudogene 1 19123937 100128305 NG_010259,AL451074 RPS13_1_111 pseudo 2304491 RPS13P2 ribosomal protein S13 pseudogene 2 19123937 729236 NG_009715,AC099784 RPS13_1_51 pseudo 2304852 RPS13P3 ribosomal protein S13 pseudogene 3 19123937 100129718 NG_010948,AC025750 RPS13_3_211 pseudo 2305160 RPS13P4 ribosomal protein S13 pseudogene 4 19123937 100271060 NG_011093,AC066692 RPS13_2_199 pseudo 2305159 RPS13P5 ribosomal protein S13 pseudogene 5 19123937 100271061 NG_011097,AC013267 RPS13_2_201 pseudo 2305158 RPS13P6 ribosomal protein S13 pseudogene 6 19123937 100271062 NG_011104,AC104109 RPS13_4_614 pseudo 2305808 RPS13P7 ribosomal protein S13 pseudogene 7 19123937 645918 NG_011355,AC025271 RPS13_3_1434 pseudo 2305913 RPS13P8 ribosomal protein S13 pseudogene 8 19123937 645630 NG_011321,AC023906 RPS13_5_1432 pseudo 731753 RPS14 ribosomal protein S14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 20491881,7867928,17353931,3683397,18202658,9152021,15189156,12588972,8706699,15883184,18650472,16713569,16189514,15489334,15231748,12477932,9582194,8722009,8076819,7177110,3785212,3529092,1549121,17643375,18851979,19773262,20193850,20877624 6208 NM_001025071,NM_001025070,NM_005617,AC011388,CH471062,M13934,AA467888,AK312179,BC001126,BC003401,BC006784,BC020515,BC091474,BC110792,BM454896,BM557014,CR590045,CR592161,CR593422,CR596265,CR597351,CR617562,CR623170,CR624672 NP_001020242,NP_001020241,NP_005608,EAW61723,EAW61724,EAW61725,EAW61726,AAB59504,AAB59505,BAG35112,AAH01126,AAH03401,AAH06784,AAH20515,AAH91474,P62263,Q15372,ABM81890,ABM85062 Hs.725969 EMTB 40S ribosomal protein S14|emetine resistance protein-coding 2305157 RPS14P1 ribosomal protein S14 pseudogene 1 19123937 100271063 NG_011111,AL591846 RPS14_1_156 pseudo 2305227 RPS14P10 ribosomal protein S14 pseudogene 10 19123937,12690205 647034 NG_006544,AC093106,CH236950 EAL24078 RPS14_7_847 pseudo 2305156 RPS14P2 ribosomal protein S14 pseudogene 2 19123937 100271064 NG_011116,AL365357 RPS14_2_132 pseudo 2305621 RPS14P3 ribosomal protein S14 pseudogene 3 This gene is one of the multiple ribosomal protein S14-like genes that are dispersed throughout the genome. This gene is intronless, and may possibly be a pseudogene and/or a null allele of the spliced and functional ribosomal protein S14 gene that is located on chromosome 5. This intronless gene is transcribed and has the potential to encode a protein similar to ribosomal protein S14, but it is unclear as to whether or not a protein is produced. [provided by RefSeq] 19123937,12477932,17207965 644068 NG_011176,AL031727,BC072682,BU176905 ADQ32031 Hs.660760 RPS14_1_16 pseudo 2304609 RPS14P4 ribosomal protein S14 pseudogene 4 19123937 100132382 NG_010162,AC068491 RPS14_2_264 pseudo 2305745 RPS14P5 ribosomal protein S14 pseudogene 5 19123937 100133255 NG_010706,AC093616,AC133965 RPS14_3_249 pseudo 2305509 RPS14P6 ribosomal protein S14 pseudogene 6 19123937 646737 NG_010435,AC023424 RPS14_3_529 pseudo 2305155 RPS14P7 ribosomal protein S14 pseudogene 7 19123937 100271065 NG_011119,AC125470 RPS14_4_530 pseudo 2305589 RPS14P8 ribosomal protein S14 pseudogene 8 19123937 644146 NG_010268,AC027304 RPS14_5_603 pseudo 2305591 RPS14P9 ribosomal protein S14 pseudogene 9 19123937 644119 NG_009572,AL121835 RPS14_6_722 pseudo 736357 RPS15 ribosomal protein S15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 16037817,15189156,12588972,8706699,15883184,19061985,15489334,12477932,9582194,8722009,2159154,2821540,15231747,18697920,3378620,2044758 6209 NM_001018,AC027307,CH471139,M32405,AF145025,BC064908,BC080543,BC105810,BC141832,BU602036,CR592941,CR593936,CR597356,J02984,NG_017014 NP_001009,EAW69499,EAW69500,AAA36568,AAP97277,AAH64908,AAI05811,AAI41833,AAA36036,P62841 Hs.406683 MGC111130|RIG 40S ribosomal protein S15|homolog of rat insulinoma|insulinoma protein protein-coding 735975 RPS15A ribosomal protein S15a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 9582194,14667819,15883184,15108328,15189156,12588972,8706699,16189514,15489334,14702039,12477932,8722009,8185605 6210 NM_001019,NM_001030009,AB007154,AC020716,AC138811,CH471186,CS185588,AB062400,AK023088,AK130967,AK291988,AK311976,AY208299,BC001697,BC030569,BC032115,BC046113,BC105273,BC105292,BF678907,BG035607,CR610037,CR614478,CR621365,X84407 NP_001010,NP_001025180,BAA28592,EAW50255,CAJ42769,BAB93487,BAF84677,BAG34915,AAO48936,AAH01697,AAH30569,AAH46113,AAI05274,AAI05293,EAW50254,CAA59127,P62244 Hs.370504 FLJ27457|MGC111208|S15a 40S ribosomal protein S15a|up-regulated by HBV X protein protein-coding 1350733 RPS15AP1 ribosomal protein S15a pseudogene 1 19123937 92682 NG_000951,AL121759 RPS15A_24_1692|dJ872K7.6 pseudo 2304855 RPS15AP10 ribosomal protein S15a pseudogene 10 19123937 728963 CA843872,NR_026768,AL604028 Hs.675157 RPS15A_4_42 pseudo 2305114 RPS15AP11 ribosomal protein S15a pseudogene 11 19123937 644790 NG_010947,AL592166 RPS15A_3_41 pseudo 2305456 RPS15AP12 ribosomal protein S15a pseudogene 12 19123937 100129243 NG_011132,AC103590 RPS15A_5_166 pseudo 2305676 RPS15AP13 ribosomal protein S15a pseudogene 13 19123937 100128605 NG_010488,AC006461 RPS15A_3_241 pseudo 2304356 RPS15AP14 ribosomal protein S15a pseudogene 14 19123937 100127924 NG_009584,AC096649 RPS15A_4_297 pseudo 2305780 RPS15AP15 ribosomal protein S15a pseudogene 15 19123937 100130782 NG_011150,AC007389 RPS15A_6_237 pseudo 2304791 RPS15AP16 ribosomal protein S15a pseudogene 16 19123937 100271358 NG_011319,AC023598 RPS15A_7_402 pseudo 2305766 RPS15AP17 ribosomal protein S15a pseudogene 17 19123937 391656 NG_011197,AC007511,CH471057 EAX05531 RPS15A_8_485 pseudo 2304789 RPS15AP18 ribosomal protein S15a pseudogene 18 19123937 100271360 NG_009955,AC010285 RPS15A_9_644 pseudo 2305472 RPS15AP19 ribosomal protein S15a pseudogene 19 19123937 646819 NG_010854,AL033519 RPS15A_5_686 pseudo 1347234 RPS15AP2 ribosomal protein S15a pseudogene 2 19123937 326316 NG_002566,AL117692 RPS15A_11_1364 pseudo 2305112 RPS15AP20 ribosomal protein S15a pseudogene 20 19123937 647155 NG_011260,AL445529 RPS15A_10_701 pseudo 2304792 RPS15AP21 ribosomal protein S15a pseudogene 21 19123937 100271357 NG_011313,AL139098 RPS15A_6_747 pseudo 2304551 RPS15AP22 ribosomal protein S15a pseudogene 22 19123937 100271557 NG_011019,AC093106,CH236950 RPS15A_11_848 pseudo 2304550 RPS15AP23 ribosomal protein S15a pseudogene 23 19123937 100271558 NG_011024,AC083875,CH236950 RPS15A_12_849 pseudo 2305652 RPS15AP24 ribosomal protein S15a pseudogene 24 19123937 648729 NG_010125,AC026979 RPS15A_13_889 pseudo 2305107 RPS15AP25 ribosomal protein S15a pseudogene 25 19123937 728774 NG_011025,AC090096 RPS15A_14_912 pseudo 2304790 RPS15AP26 ribosomal protein S15a pseudogene 26 19123937 100271359 NG_011324,AC108860 RPS15A_7_928 pseudo 2304462 RPS15AP27 ribosomal protein S15a pseudogene 27 19123937 100271613 NG_011314,AL353137 RPS15A_15_1003 pseudo 2304478 RPS15AP28 ribosomal protein S15a pseudogene 28 19123937 100132400 NG_011361,AL596223 RPS15A_16_1058 pseudo 2305606 RPS15AP29 ribosomal protein S15a pseudogene 29 19123937 100128863 NG_010495,AL360001 RPS15A_17_1092 pseudo 1344059 RPS15AP3 ribosomal protein S15a pseudogene 3 19123937 326317 NG_002567,AL358832 RPS15A_19_1360 pseudo 2304466 RPS15AP30 ribosomal protein S15a pseudogene 30 19123937 100271607 NG_011280,AL445486 RPS15A_8_1098 pseudo 2304426 RPS15AP31 ribosomal protein S15a pseudogene 31 19123937 100271652 NG_010192,AC104978 RPS15A_18_1130 pseudo 2304429 RPS15AP32 ribosomal protein S15a pseudogene 32 19123937 100271649 NG_010178,AC089999 RPS15A_10_1280 pseudo 2304425 RPS15AP33 ribosomal protein S15a pseudogene 33 19123937 100271654 NG_010204,AC145285 RPS15A_21_1479 pseudo 2304638 RPS15AP34 ribosomal protein S15a pseudogene 34 11181995,19123937 390735 NG_010426,AC117984,CH471092 EAW82998,EAW82999 RPS15A_22_1489 pseudo 2304507 RPS15AP35 ribosomal protein S15a pseudogene 35 19123937 390848 NG_010996,AC011825 RPS15A_23_1592 pseudo 2304428 RPS15AP36 ribosomal protein S15a pseudogene 36 19123937 100271650 NG_010183,AC020915 RPS15A_12_1675 pseudo 2304427 RPS15AP37 ribosomal protein S15a pseudogene 37 19123937 100271651 NG_010187,AC005005 RPS15A_13_1746 pseudo 2304424 RPS15AP38 ribosomal protein S15a pseudogene 38 19123937 100271655 NG_010210,BX470187 RPS15A_25_1749 pseudo 2305454 RPS15AP39 ribosomal protein S15a pseudogene 39 19123937 100129284 NG_009981,AL353691 RPS15A_14_1774 pseudo 2303451 RPS15AP4 ribosomal protein S15a pseudogene 4 19123937 654371 NG_009527,AL049874 RPS15A_20_1378 pseudo 2305899 RPS15AP40 ribosomal protein S15a pseudogene 40 19123937 100128083 NG_010442,AL606516 RPS15A_26_1770 pseudo 1351988 RPS15AP5 ribosomal protein S15a pseudogene 5 19123937 414230 NG_009526,AC025947 RPS15A_9_1106 pseudo 2305051 RPS15AP6 ribosomal protein S15a pseudogene 6 19123937 100271141 NG_010197,AL627311 RPS15A_1_18 pseudo 2305050 RPS15AP7 ribosomal protein S15a pseudogene 7 19123937 100271142 NG_010203,AL162739 RPS15A_1_57 pseudo 2305049 RPS15AP8 ribosomal protein S15a pseudogene 8 19123937 100271143 NG_010208,AL513331 RPS15A_2_39 pseudo 2305846 RPS15AP9 ribosomal protein S15a pseudogene 9 19123937,11181995 441898 NG_006958,AL391476,CH471122 EAW56670 RPS15A_2_91 pseudo 2305465 RPS15P1 ribosomal protein S15 pseudogene 1 19123937 728428 NG_010559,AL357055 RPS15_1_87 pseudo 2305154 RPS15P2 ribosomal protein S15 pseudogene 2 19123937 100271066 NG_011122,AL355472 RPS15_1_177 pseudo 2304368 RPS15P3 ribosomal protein S15 pseudogene 3 19123937 391137 NG_011163,AL031864 RPS15_2_123 pseudo 2305850 RPS15P4 ribosomal protein S15 pseudogene 4 19123937,11181995 401019 NG_005983,AC007969,CH471058 EAX11211 RPS15_2_291 pseudo 2305875 RPS15P5 ribosomal protein S15 pseudogene 5 19123937 729789 NG_010976,AC092057 RPS15_3_372 pseudo 2305699 RPS15P6 ribosomal protein S15 pseudogene 6 19123937 391845 NG_010863,AC008446 RPS15_3_634 pseudo 2304788 RPS15P7 ribosomal protein S15 pseudogene 7 19123937 100271361 NG_009960,AC006122 RPS15_4_1197 pseudo 2304872 RPS15P8 ribosomal protein S15 pseudogene 8 19123937 390576 NG_010918,AC016304 RPS15_4_1425 pseudo 2305551 RPS15P9 ribosomal protein S15 pseudogene 9 19123937 401895 NG_011189,AC005330 RPS15_5_1616 pseudo 737248 RPS16 ribosomal protein S16 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17881366,17220478,17353931,18697920,15189156,12588972,8706699,15883184,2016298,18318121,15635413,15489334,14702039,12477932,12082018,11875025,11790298,11101529,11082045,9582194,8889548,8722009,7821789,16712791,19559069,19773262,20198863 6217 NM_001020,AB061841,AC011500,CH471126,AK055869,AK315498,BC004324,BC007977,BC024970,BC071674,BC095429,BQ421722,CB107158,CB242275,CR619874,D28392,M60854,FB342983,FB711106 NP_001011,BAB79479,EAW56892,EAW56893,EAW56894,EAW56895,BAG37882,AAH04324,AAH07977,AAH71674,BAA05758,AAA60583,P62249,Q6IPX4,ABM84375,ABM87218,CAR81492,CAS91508 Hs.397609 40S ribosomal protein S16 protein-coding 2305849 RPS16P1 ribosomal protein S16 pseudogene 1 19123937 441876 NG_010091,AL450998 RPS16_1_14 pseudo 2305796 RPS16P10 ribosomal protein S16 pseudogene 10 19123937 729903 NG_009607,AC011447 RPS16_5_1636 pseudo 2305477 RPS16P2 ribosomal protein S16 pseudogene 2 19123937 402069 NG_010786,AC098828 RPS16_1_197 pseudo 2305153 RPS16P3 ribosomal protein S16 pseudogene 3 19123937 100271067 NG_011126,AC068287 RPS16_2_279 pseudo 2305152 RPS16P4 ribosomal protein S16 pseudogene 4 19123937 100271068 NG_011135,AC097359 RPS16_2_363 pseudo 2305110 RPS16P5 ribosomal protein S16 pseudogene 5 19123937,14702039 647190 NG_010106,AL034374,AK097937 Hs.725124 RPS16_3_702 pseudo 2304787 RPS16P6 ribosomal protein S16 pseudogene 6 19123937 100271362 NG_009966,AP001187 RPS16_3_1149 pseudo 2305885 RPS16P7 ribosomal protein S16 pseudogene 7 19123937 441744 NG_010756,AC106820 RPS16_4_1467 pseudo 2305355 RPS16P8 ribosomal protein S16 pseudogene 8 19123937 654170 NG_010473,AC026254 RPS16_4_1529 pseudo 2304392 RPS16P9 ribosomal protein S16 pseudogene 9 19123937 645412 NG_010193,AC112705 RPS16_5_1659 pseudo 1351474 RPS17 ribosomal protein S17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 20378560,17647292,18412286,18697920,15189156,12588972,8706699,15883184,3240863,19061985,15635413,15489334,15345747,14702039,12477932,9582194,8878544,8722009,8318536,7661859,3529092,1577483 6218 NM_001021,NG_009890,AC135995,CH471188,M18000,AK311951,BC009407,BC019899,BC020453,BC022370,BC049824,BC062715,BC070222,BC071928,CR595559,CR602312,CR609691,CR612555,CR615408,CR618328,CR618357,CR620738,M13932 NP_001012,EAW62453,EAW62454,EAW62455,AAA60285,BAG34891,AAH09407,AAH19899,AAH22370,AAH49824,AAH62715,AAH70222,AAH71928,AAA60284,P08708,ABM84306,ABM87700 Hs.433427 DBA4|MGC72007|RPS17L1|RPS17L2 40S ribosomal protein S17 protein-coding 1352565 RPS17L3 ribosomal protein S17-like 3, G1-phase expressed 8123253 6221 1342727 RPS17P1 ribosomal protein S17 pseudogene 1 19123937 442195 NG_008917,AL645927,AL662869,BX000531,BX247947,BX927133,CR388393,CR759768,CR759956 RPS17_3_674|RPS17p|dJ994E9.1 pseudo 2305149 RPS17P10 ribosomal protein S17 pseudogene 10 19123937 100271071 NG_011152,AC107421 RPS17_2_414 pseudo 2305148 RPS17P11 ribosomal protein S17 pseudogene 11 19123937 100271072 NG_011156,AC116357 RPS17_4_560 pseudo 2305516 RPS17P12 ribosomal protein S17 pseudogene 12 19123937,12690205 442726 NG_009855,AC008155,CH236950,CH471070 EAL24048,EAW83883 RPS17_5_854 pseudo 2305147 RPS17P13 ribosomal protein S17 pseudogene 13 19123937 100271073 NG_011159,AC009196,CH236951 RPS17_6_804 pseudo 2305146 RPS17P14 ribosomal protein S17 pseudogene 14 19123937 100271074 NG_011164,AP002088 RPS17_6_941 pseudo 2304786 RPS17P15 ribosomal protein S17 pseudogene 15 19123937 100271363 NG_009973,AP003973 RPS17_7_1173 pseudo 2305478 RPS17P16 ribosomal protein S17 pseudogene 16 19123937,12477932 402057 NG_010713,CH471095,Z74021 EAW60005 RPS17_8_1748 pseudo 2304935 RPS17P17 ribosomal protein S17 pseudogene 17 19123937 100271230 NG_010652,AL121875 RPS17_8_1818 pseudo 1344055 RPS17P2 ribosomal protein S17 pseudogene 2 19123937,3459254,3240863 6219 NG_003033,AC091986,AC126767 RPS17A|RPS17L1|RPS17_5_604 pseudo 1353406 RPS17P3 ribosomal protein S17 pseudogene 3 19291764,19123937,3459254,3240863 646013 NG_009636,AC127024 RPS17B|RPS17L2|RPS17_7_1537 pseudo 1350895 RPS17P4 ribosomal protein S17 pseudogene 4 85966 1346959 RPS17P5 ribosomal protein S17 pseudogene 5 19123937,3240863 442216 NG_005089,AL049693 Q9NU98 RPS17L4|RPS17_4_700|dJ753D5.2 pseudo 2304370 RPS17P6 ribosomal protein S17 pseudogene 6 19123937 391130 NG_011125,AL451050 RPS17_1_116 pseudo 2305151 RPS17P7 ribosomal protein S17 pseudogene 7 19123937 100271069 NG_011141,AC013399 RPS17_1_271 pseudo 2305150 RPS17P8 ribosomal protein S17 pseudogene 8 19123937 100271070 NG_011147,AC013401 RPS17_2_307 pseudo 2305749 RPS17P9 ribosomal protein S17 pseudogene 9 19123937 100130823 NG_010005,AC083906 RPS17_3_404 pseudo 1342484 RPS18 ribosomal protein S18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 15189156,12588972,8706699,15883184,8441687,15635413,15532723,14574404,12477932,12145273,11790298,9582194,8722009,7923143,1872840,19834535,19851445 6222 AL031228,AL645940,AL662820,AL662827,AL713971,AL844527,CH471081,CR759786,CR759817,AY536376,BC101786,BC101788,BC106063,CR593767,CR596186,CR599079,NM_022551,CR604146,CR605901,CR611667,CR621545,X69150,BX248408 NP_072045,CAA20231,CAI18076,CAI18127,CAI17530,CAI17656,CAI41848,EAX03694,EAX03695,EAX03696,EAX03697,EAX03698,EAX03699,CAQ08251,CAQ08021,AAT66049,AAI01787,AAI01789,AAI06064,CAB56794,P62269,Q5GGW2,Q5SUJ3 Hs.627414 D6S218E|HKE3|KE-3|KE3|MGC117351|MGC126835|MGC126837 40S ribosomal protein S18|rhabdomyosarcoma antigen MU-RMS-40.21 protein-coding 1347004 RPS18P1 ribosomal protein S18 pseudogene 1 19123937,15489334,14702039,11780052,10718198 128676 NG_000970,AL109935 RPS18_9_1682|dJ1022P6.1 pseudo 2304483 RPS18P10 ribosomal protein S18 pseudogene 10 19123937 729293 NG_011382,AL357084 RPS18_2_763 pseudo 2305143 RPS18P11 ribosomal protein S18 pseudogene 11 19123937 100271077 NG_011179,AC022730 RPS18_3_913 pseudo 2304641 RPS18P12 ribosomal protein S18 pseudogene 12 19123937 388339 NG_011261,AC013248 RPS18_4_1516 pseudo 2304785 RPS18P13 ribosomal protein S18 pseudogene 13 19123937 100271364 NG_009978,AC020904 RPS18_8_1634 pseudo 2305714 RPS18P14 ribosomal protein S18 pseudogene 14 19123937 100128535 NG_010112,AL096701 RPS18_10_1747 pseudo 1351157 RPS18P2 ribosomal protein S18 pseudogene 2 19123937 326320 NG_002570,AL122020 RPS18_7_1400 pseudo 2305833 RPS18P3 ribosomal protein S18 pseudogene 3 19123937 100128258 NG_009969,AL606462 RPS18_2_171 pseudo 2305145 RPS18P4 ribosomal protein S18 pseudogene 4 19123937 100271075 NG_011169,AL031733 RPS18_1_117 pseudo 2305216 RPS18P5 ribosomal protein S18 pseudogene 5 19123937,11181995 100131863 NG_010113,AC073861,CH471052 EAW79788,EAW79789 RPS18|RPS18_1_389 pseudo 2305144 RPS18P6 ribosomal protein S18 pseudogene 6 19123937 100271076 NG_011173,AC108695,AC108715 RPS18_3_386 pseudo 2304875 RPS18P7 ribosomal protein S18 pseudogene 7 19123937 133790 NG_010832,AC008799 RPS18_4_595 pseudo 2305761 RPS18P8 ribosomal protein S18 pseudogene 8 19123937 643627 NG_011359,AL359643 RPS18_5_650 pseudo 2305806 RPS18P9 ribosomal protein S18 pseudogene 9 19123937,12477932 645958 NG_010375,AL078581,BC071678 Hs.632614 RPS18_6_767 pseudo 68661 RPS19 ribosomal protein S19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1599571,1599572,1580863 19913121,20395159,20628086,20606162,20639905,11733378,11716516,11226885,11112378,10662814,10598818,10590074,9582194,8722009,1339304,20473571,9988267,17353931,15883184,16289379,18697920,15189156,12588972,8706699,19454283,19155217,18768533,18412286,17962699,17517689,17356406,17199736,17178250,17107358,17082006,17053056,16990592,16266891,16159874,15755903,15635413,15626736,15489334,15330156,15075082,12750732,12651630,12586610,12477932,11942409,19587786,19689926,19773279,20054847,20093496,20378560,20568250 1599571,1599572 6223 M81757,NG_007080,AB007155,AC010616,AF092907,CH471126,EU326300,AK311786,BC000023,BC007615,BC017386,BC018616,NM_001022,CS401981 AAA89070,P39019,Q8WVX7,ABM82749,ABW03437,NP_001013,BAA28593,AAD13668,EAW57071,EAW57072,EAW57073,EAW57074,ACA05898,BAG34729,AAH00023,AAH07615,AAH17386,AAH18616,CAL40359 Hs.438429 DBA|DBA1 40S ribosomal protein S19 protein-coding 1602664 RPS19BP1 ribosomal protein S19 binding protein 1 16289379,15489334,15461802,14702039,12477932,10591208,17964266 91582 NM_194326,AL022312,CH471095,AK025423,AK055865,BC037573,BC047711,CR456443,CR592741,CR610413,CR613278 NP_919307,CAQ08288,EAW60343,EAW60344,AAH37573,AAH47711,CAG30329,Q86WX3,CAK54472,CAK54771 Hs.526933 AROS|FLJ21770|MGC52010|S19BP|dJ1104E15.4 40S ribosomal protein S19-binding protein 1|RPS19-binding protein 1|active regulator of SIRT1|homolog of mouse S19 binding protein protein-coding 1349522 RPS19P1 ribosomal protein S19 pseudogene 1 19123937,10753603 85486 NG_001295,AF242191,AL121893 RPS19_3_1688|bA189K21.7 pseudo 1352216 RPS19P2 ribosomal protein S19 pseudogene 2 19123937,10753603 85487 NG_001296,AF242192,AL357055 RPS19_1_86 pseudo 2303463 RPS19P3 ribosomal protein S19 pseudogene 3 19123937 728953 NG_009541,AL445363 RPS19_4_1350 pseudo 2304966 RPS19P4 ribosomal protein S19 pseudogene 4 19123937 100132049 NG_011084,AC108114 RPS19_2_563 pseudo 2305599 RPS19P5 ribosomal protein S19 pseudogene 5 19123937 100131286 NG_011109,AL512430 RPS19_1_737 pseudo 2305142 RPS19P6 ribosomal protein S19 pseudogene 6 19123937 100271078 NG_011181,AL353707 RPS19_2_988 pseudo 2305353 RPS19P7 ribosomal protein S19 pseudogene 7 19123937 728509 NG_010974,AL358394 RPS19_3_1038 pseudo 732314 RPS2 ribosomal protein S2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 12588972,16061210,18573314,17081983,16964243,15635413,15489334,15324660,12694581,12477932,12422231,11751223,9582194,8722009,8706699,2308862,16169070,17643375,19138403,16263090,15473865,15883184,15189156 6187 BC066321,BC068051,BC071673,BC071922,BC071923,BC071924,BC073966,BC075830,BC103756,BC105985,BC106060,CR590936,CR591765,CR593005,CR594414,CR596231,CR601170,CR605226,CR606602,CR607006,CR607612,CR607747,CR608202,CR608509,CR609604,CR610190,CR612811,CR613101,CR613584,CR617837,CR620130,CR622407,CR624847,X17206,AB007147,AC005363,AL832857,NM_002952,CH471112,AB065088,AB065089,AB082925,AK312173,BC001795,BC004520,BC006559,BC008329,BC008862,BC010165,BC012354,BC013833,BC016178,BC016951,BC018993,BC019021,BC020336,BC021545,BC023541,BC025677,BC029979,BC032129,BC035427,BC040830,BC052235,BC063011 AAH66321,AAH68051,AAH71673,AAH71922,AAH71923,AAH71924,AAH73966,AAH75830,AAI03757,AAI05986,AAI06061,CAA35078,O60249,P15880,Q3KQT6,Q6IPX5,Q8J014,Q8N5L9,Q8NI61,Q8NI62,Q9BSW5,ABM83371,ABM86582,NP_002943,BAA25813,EAW85592,EAW85593,EAW85594,EAW85595,EAW85596,BAB93525,BAB93526,BAC16801,BAG35107,AAH01795,AAH04520,AAH06559,AAH08862,AAH10165,AAH12354,AAH16178,AAH16951,AAH18993,AAH21545,AAH23541,AAH25677,AAH32129 Hs.721310,Hs.356366,Hs.381079,Hs.498569,Hs.506997 LLREP3|MGC102851|MGC117344|MGC117345 40S ribosomal protein S2|40S ribosomal protein S4|OK/KNS-cl.6|protein LLRep3 protein-coding 736603 RPS20 ribosomal protein S20 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 20546612,16712791,8479924,15231747,17220478,17373842,15883184,15189156,18029348,12588972,8706699,18391951,16968546,15489334,12477932,12107412,11875025,9582194,8722009,8674114,7821789 6224 NM_001023,NM_001146227,AB007156,AB061842,AC107376,CH471068,AK130961,AK301342,AK311808,AV716603,BC007507,BC087850,BQ064297,CB138358,CD671362,D28358,L06498 NP_001014,NP_001139699,BAA25820,BAB79480,EAW86770,EAW86771,EAW86772,BAG62890,BAG34751,AAH07507,AAH87850,BAA05724,AAA60286,P60866,ABM84138,ABM87540 Hs.8102 FLJ27451|MGC102930 40S ribosomal protein S20 protein-coding 1348390 RPS20P1 ribosomal protein S20 pseudogene 1 19123937,10830953 54025 NG_000906,AF015720 RPS20P|RPS20_16_1728 ribosomal protein s20, pseudogene 1 pseudo 2305139 RPS20P10 ribosomal protein S20 pseudogene 10 19123937 100271081 NG_011200,AC067950 RPS20_3_240 pseudo 2305138 RPS20P11 ribosomal protein S20 pseudogene 11 19123937 100271082 NG_011209,AC079922 RPS20_4_266 pseudo 2305137 RPS20P12 ribosomal protein S20 pseudogene 12 19123937 100271083 NG_011214,AC097713 RPS20_4_337 pseudo 2305136 RPS20P13 ribosomal protein S20 pseudogene 13 19123937 100271084 NG_011218,AC105402 RPS20_5_284 pseudo 2304866 RPS20P14 ribosomal protein S20 pseudogene 14 19123937 440992 NG_005532,AC007690 RPS20_6_446 pseudo 2305135 RPS20P15 ribosomal protein S20 pseudogene 15 19123937 100271085 NG_011227,AC099535 RPS20_5_351 pseudo 2305134 RPS20P16 ribosomal protein S20 pseudogene 16 19123937 100271086 NG_011233,AC008850 RPS20_7_597 pseudo 2305132 RPS20P17 ribosomal protein S20 pseudogene 17 19123937 100271088 NG_011240,AC146507 RPS20_9_642 pseudo 2304934 RPS20P18 ribosomal protein S20 pseudogene 18 19123937 100271231 NG_010657,AL512430 RPS20_10_738 pseudo 2305515 RPS20P19 ribosomal protein S20 pseudogene 19 19123937 644309 NG_011101,AC104843 RPS20_7_863 pseudo 1345020 RPS20P2 ribosomal protein S20 pseudogene 2 64726 NG_009635,AL031714 pseudo 2304932 RPS20P20 ribosomal protein S20 pseudogene 20 19123937 100271233 NG_010667,AC022867 RPS20_11_915 pseudo 2304931 RPS20P21 ribosomal protein S20 pseudogene 21 19123937 100271234 NG_010674,AC022868 RPS20_12_916 pseudo 2305133 RPS20P22 ribosomal protein S20 pseudogene 22 19123937 100271087 NG_011236,AC087623 RPS20_8_895 pseudo 2305131 RPS20P23 ribosomal protein S20 pseudogene 23 19123937 100271089 NG_011244,AP004195 RPS20_9_932 pseudo 2304933 RPS20P24 ribosomal protein S20 pseudogene 24 19123937 100271232 NG_010663,AL591662 RPS20_10_984 pseudo 2304930 RPS20P25 ribosomal protein S20 pseudogene 25 19123937 100271235 NG_010678,AL161727 RPS20_13_989 pseudo 2305544 RPS20P26 ribosomal protein S20 pseudogene 26 19123937 646660 NG_011349,AC090589 RPS20_11_1143 pseudo 2305793 RPS20P27 ribosomal protein S20 pseudogene 27 19123937,12477932 729927 NG_010383,AP000580,BC071734 Hs.660751 RPS20_12_1158 pseudo 2304549 RPS20P28 ribosomal protein S20 pseudogene 28 19123937 100271560 NG_011035,AC006511 RPS20_13_1202 pseudo 2304548 RPS20P29 ribosomal protein S20 pseudogene 29 19123937 100271561 NG_011040,AC006517 RPS20_14_1201 pseudo 1348542 RPS20P3 ribosomal protein S20 pseudogene 3 19123937,3459254 6225 NG_003034,AC133134 RPS20A|RPS20_8_599 pseudo 2304547 RPS20P30 ribosomal protein S20 pseudogene 30 19123937 100271562 AC026336,NG_011045 RPS20_14_1295 pseudo 2304546 RPS20P31 ribosomal protein S20 pseudogene 31 19123937 100271563 NG_011049,AC004263 RPS20_15_1287 pseudo 2305342 RPS20P32 ribosomal protein S20 pseudogene 32 19123937 100129306 NG_010130,AL160035,CH471075 EAX08391 RPS20_15_1306 pseudo 2304545 RPS20P33 ribosomal protein S20 pseudogene 33 19123937 100271564 NG_011056,AL928654 RPS20_16_1416 pseudo 2304544 RPS20P34 ribosomal protein S20 pseudogene 34 19123937 100271565 NG_011060,AC012170 RPS20_17_1430 pseudo 2304543 RPS20P35 ribosomal protein S20 pseudogene 35 19123937 100271566 NG_011067,AC110749 RPS20_18_1544 pseudo 1348521 RPS20P4 ribosomal protein S20 pseudogene 4 19123937,3459254 6226 NG_003035,AC011406 RPS20B|RPS20_6_627 pseudo 2305381 RPS20P5 ribosomal protein S20 pseudogene 5 19123937 100270899 NG_010270,AL359739 RPS20_1_55 pseudo 2305328 RPS20P6 ribosomal protein S20 pseudogene 6 19123937 100270900 NG_010273,AL109741 RPS20_1_80 pseudo 2305327 RPS20P7 ribosomal protein S20 pseudogene 7 19123937 100270901 NG_010277,AL138799 RPS20_2_68 pseudo 2305141 RPS20P8 ribosomal protein S20 pseudogene 8 19123937 100271079 NG_011187,AC096632 RPS20_2_149 pseudo 2305140 RPS20P9 ribosomal protein S20 pseudogene 9 19123937 100271080 NG_011191,AC007098 RPS20_3_230 pseudo 1348628 RPS21 ribosomal protein S21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 10079194,15189156,18029348,12588972,8706699,15883184,8332502,16341674,16189514,12477932,11875025,11780052,10900511,9582194,8889548,8722009,7805865,7786314,16169070 6227 HB867505,HB868392,HB871649,HB879510,HB889355,HC924914,HC925801,HC929058,HC936919,HC946764,AB007157,AB061843,AJ250907,AL121832,CH471077,AV758927,BC018140,BC021990,BC027976,BC071927,BM840443,NM_001024,CF124568,CR542132,CR593203,CR619080,L04483,X79563,HB462033 CBU85172,CBU88931,CBU93682,CBF57690,CBF58172,CBF59928,CBF64055,CBF68808,CBU83191,CBU83607,NP_001015,BAA25821,BAB79481,CAB83213,CAC21458,CAC29247,CAC29248,EAW75367,EAW75368,EAW75369,EAW75370,EAW75371,AAH18140,AAH21990,CAG46929,AAA99893,CAA56100,P63220,Q13666,Q6FGH5,Q8WVC2,ABM84506,ABM84508,ABM85685,ABM85943,ABM85955,CBA11147 Hs.190968 40S ribosomal protein S21|8.2 kDa differentiation factor|OTTHUMP00000031485 protein-coding 2305130 RPS21P1 ribosomal protein S21 pseudogene 1 19123937 100271090 NG_011248,AL672237 RPS21_1_179 pseudo 2305862 RPS21P2 ribosomal protein S21 pseudogene 2 19123937 100132961 NG_010504,AC114755 RPS21_1_254 pseudo 2305860 RPS21P3 ribosomal protein S21 pseudogene 3 19123937 100132993 NG_010672,AC098818 RPS21_2_494 pseudo 2305570 RPS21P4 ribosomal protein S21 pseudogene 4 19123937 100128912 NG_009712,AC006427 RPS21_2_461 pseudo 2304929 RPS21P5 ribosomal protein S21 pseudogene 5 19123937 100271236 NG_010685,AL513328 RPS21_3_1008 pseudo 2304784 RPS21P6 ribosomal protein S21 pseudogene 6 19123937 100271365 NG_009985,AC090311 RPS21_3_1599 pseudo 2304783 RPS21P7 ribosomal protein S21 pseudogene 7 19123937 100271366 NG_009993,AL121890 RPS21_4_1681 pseudo 1343302 RPS23 ribosomal protein S23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 15189156,12588972,8706699,15883184,8415000,15635413,15489334,14702039,12477932,9582194,8889548,8722009,7829101,7821789 6228 AB007158,AC010598,CH471084,AI955885,AK092335,AK291132,AK311772,BC046998,BC070221,BG567497,BI497419,BM476492,BU533156,BU594771,CF129812,CR456996,CR593430,CR594322,CR600888,CR607858,CR613359,CR616008,D14530,D28396,NM_001025 NP_001016,BAA25822,EAW95887,EAW95888,BAF83821,BAG34715,AAH70221,CAG33277,BAA03400,BAA05762,P62266 Hs.527193 FLJ35016 40S ribosomal protein S23|OTTHUMP00000222332|OTTHUMP00000222333|OTTHUMP00000222334|OTTHUMP00000222652|OTTHUMP00000222653|homolog of yeast ribosomal protein S28 protein-coding 1345472 RPS23P1 ribosomal protein S23 pseudogene 1 19123937 93948 NG_000953,AP002906 RPS23_3_930 pseudo 2305738 RPS23P2 ribosomal protein S23 pseudogene 2 19123937,9847074 391701 NG_009493,AC097514 RPS23_2_521 pseudo 2305129 RPS23P3 ribosomal protein S23 pseudogene 3 19123937 100271091 NG_011257,AC053544 RPS23_1_489 pseudo 2305128 RPS23P4 ribosomal protein S23 pseudogene 4 19123937 100271092 NG_011263,AC079228 RPS23_1_526 pseudo 2305127 RPS23P5 ribosomal protein S23 pseudogene 5 19123937 100271093 NG_011270,AC109461 RPS23_2_542 pseudo 2304782 RPS23P6 ribosomal protein S23 pseudogene 6 19123937 100271367 NG_010000,AC007601 RPS23_4_1473 pseudo 2305612 RPS23P8 ribosomal protein S23 pseudogene 8 19123937 653658 NG_009491,AL627071 RPS23_5_1783 pseudo 734142 RPS24 ribosomal protein S24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq] 18412286,17186470,18230666,18697920,15189156,18029348,12588972,8706699,15883184,16381901,16344560,16341674,15489336,15489334,12766061,12477932,11230166,11076863,10409428,9582194,9027498,8722009,8647458,2210388,1588318,19689926,19773262,20378560 6229 NM_001142285,NM_001142283,NM_001142282,NM_001142284,NM_033022,NM_001026,AB007159,AL512628,CH471083,U12202,AF147330,AK311776,AK311910,BC000523,BC003149,BC071926,BE300488,BG610671,BG944046,BM745909,BX537975,BX647260,CD176901,CD677556,CR590398,CR595166,CR596251,CR600632,CR613679,CR613997,CR621884,DB116225,M31520,NG_012633 AAA36588,P62847,Q5T0P7,Q5T0P8,CAL38254,CAL38666,NP_001135757,NP_001135755,NP_001135754,NP_001135756,NP_148982,NP_001017,CAI16467,CAI16468,EAW54618,EAW54619,EAW54620,EAW54621,EAW54622,EAW54623,EAW54624,EAW54625,EAW54626,EAW54627,AAB08006,AAB08007,BAG34719,BAG34851,AAH00523,AAH71926,CAD97939 Hs.280130 DBA3|DKFZp686N1586 40S ribosomal protein S24 protein-coding 1343131 RPS24P1 ribosomal protein S24 pseudogene 1 12815422 23756 NG_000893,AC004772 RPS24P pseudo 2305125 RPS24P10 ribosomal protein S24 pseudogene 10 19123937 100271097 NG_011289,AC090954 RPS24_3_344 pseudo 2305715 RPS24P11 ribosomal protein S24 pseudogene 11 19123937 100128519 NG_010003,AC116655 RPS24_6_457 pseudo 2305124 RPS24P12 ribosomal protein S24 pseudogene 12 19123937 100271098 NG_011293,AL591516 RPS24_3_730 pseudo 2304607 RPS24P13 ribosomal protein S24 pseudogene 13 19123937 100216338 NG_009039,AL445071 RPS24_7_1030 pseudo 2305752 RPS24P14 ribosomal protein S24 pseudogene 14 19123937 100128423 NG_009035,AC127526 RPS24_4_1115 pseudo 2305378 RPS24P15 ribosomal protein S24 pseudogene 15 19123937 390107 NG_009036,AL136126 RPS24_5_1135 pseudo 2304605 RPS24P16 ribosomal protein S24 pseudogene 16 19123937 100216340 NG_009041,AC012568 RPS24_6_1447 pseudo 2304604 RPS24P17 ribosomal protein S24 pseudogene 17 19123937 100216341 NG_009042,AC012181 RPS24_7_1485 pseudo 2304781 RPS24P18 ribosomal protein S24 pseudogene 18 19123937 100271371 NG_010023,AC091021 RPS24_8_1590 pseudo 2304404 RPS24P19 ribosomal protein S24 pseudogene 19 19123937 100130183 NG_009037,AL009174 RPS24_9_1812 pseudo 1352517 RPS24P2 ribosomal protein S24 pseudogene 2 19123937 326321 NG_002571,AC007182 RPS24_8_1390 pseudo 1352060 RPS24P3 ribosomal protein S24 pseudogene 3 19123937 326322 NG_002572,AL121769 RPS24_9_1397 pseudo 2304489 RPS24P4 ribosomal protein S24 pseudogene 4 19123937 729257 NG_009044,AL158214 RPS24_2_174 pseudo 2305126 RPS24P5 ribosomal protein S24 pseudogene 5 19123937 100271094 NG_011274,AL590632 RPS24_1_136 pseudo 2304606 RPS24P6 ribosomal protein S24 pseudogene 6 19123937 100216339 NG_009040,AC097374 RPS24_2_250 pseudo 2304603 RPS24P7 ribosomal protein S24 pseudogene 7 19123937 100216342 NG_009043,AC108039 RPS24_1_225 pseudo 2304608 RPS24P8 ribosomal protein S24 pseudogene 8 19123937 100216336 NG_009034,AC105902 RPS24_4_368 pseudo 2304475 RPS24P9 ribosomal protein S24 pseudogene 9 19123937 100132496 NG_010758,AC092902 RPS24_5_400 pseudo 1353637 RPS25 ribosomal protein S25 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 724692 9582194,8722009,8406452,7821789,3378620,1544436,10050887,15231747,15189156,12588972,8706699,15883184,1748303,8020948,16169070,15489334,12477932,11875025,11101529,18029348 724692 6230 NM_001028,AB061844,AP003392,CH471065,D15048,AK311883,BC004294,BC004986,CR608319,CR620392,CR622778,D28369,M64716 NP_001019,BAB79482,EAW67425,EAW67426,BAG34824,AAH04294,AAH04986,BAA05735,AAA16105,P62851,ABM83968,ABM87284 Hs.512676 40S ribosomal protein S25 protein-coding 2291805 RPS25P1 ribosomal protein S25 pseudogene 1 19123937 283114 NG_003216,AC104563 RPS25_2_1129 pseudo 2304780 RPS25P10 ribosomal protein S25 pseudogene 10 19123937 100271372 NG_010031,AL022237 RPS25_3_1755 pseudo 2305090 RPS25P2 ribosomal protein S25 pseudogene 2 19123937 100271100 NG_011304,AC092017 RPS25_1_159 pseudo 2305089 RPS25P3 ribosomal protein S25 pseudogene 3 19123937 100271101 NG_011312,AC012065 RPS25_1_198 pseudo 2305817 RPS25P4 ribosomal protein S25 pseudogene 4 19123937 391539 NG_010598,AC005905,AC092035 RPS25_2_371 pseudo 2305088 RPS25P5 ribosomal protein S25 pseudogene 5 19123937 100271102 NG_011318,AC073522 RPS25_3_418 pseudo 2305764 RPS25P6 ribosomal protein S25 pseudogene 6 This gene appears to be an intronless pseudogene derived from the RPS25 gene. It contains an open reading frame that could produce a protein of the same or nearly the same size as that of the RPS25 gene, but there is no evidence for transcription of this locus so it is considered a pseudogene. [provided by RefSeq] 19123937,11181995 401206 NG_006648,AC034236,CH471086 EAW48944,EAW48945 RPS25_4_602 pseudo 2305087 RPS25P7 ribosomal protein S25 pseudogene 7 19123937 100271103 NG_011323,AL590004 RPS25_5_649 pseudo 2305639 RPS25P8 ribosomal protein S25 pseudogene 8 19123937 100131196 NG_010642,AC007066 RPS25_6_1012 pseudo 2304779 RPS25P9 ribosomal protein S25 pseudogene 9 19123937 100271373 NG_010036,AL731540 RPS25_7_1060 pseudo 1344988 RPS26 ribosomal protein S26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 19060904,20116044,7945460,20953189,15716004,17220478,17353931,15189156,12588972,8706699,15883184,17081983,16189514,15489334,12477932,12068637,11752456,9602156,9582194,8722009,8670309,8464749 6231 NG_023201,NM_001029,AB007160,AB007161,AC034102,CH471054,U41448,X79236,AV681946,BC002604,BC013215,BC015832,BC070220,BC105276,BC105798,CR611958,X69654,X77770 NP_001020,BAA25823,BAA25824,EAW96876,EAW96877,EAW96878,AAC26987,CAA55818,AAH02604,AAH15832,AAH70220,AAI05277,AAI05799,CAA49345,CAA54808,P62854,Q5JVH5,Q76N56,Q76N57,ABM82821,ABM83717,ABM86007,ABM87037,ABM87088 Hs.711461,Hs.447562,Hs.567235 DBA10|MGC104292 40S ribosomal protein S26 protein-coding 1345377 RPS26P1 ribosomal protein S26 pseudogene 1 10830953 54024 NG_000905,AP000692,AP001725 RPS26P pseudo 1601905 RPS26P10 ribosomal protein S26 pseudogene 10 19123937 401470 NG_005790,AC104339 RPS26_16_925 pseudo 1602142 RPS26P11 ribosomal protein S26 pseudogene 11 19123937,15772651 441502 NR_002309,AL929401,AW972305,NG_021430 CAI40435,Q5JNZ5 Hs.449523 RPS26L1|RPS26_22_1784|bA366E13.1 pseudo 2305086 RPS26P12 ribosomal protein S26 pseudogene 12 19123937 100271104 NG_009954,Z99127 RPS26_2_128 pseudo 2305084 RPS26P13 ribosomal protein S26 pseudogene 13 19123937 100271106 NG_009965,AC119750 RPS26_4_158 pseudo 2305326 RPS26P14 ribosomal protein S26 pseudogene 14 19123937 100270902 NG_010283,AL445685 RPS26_1_49 pseudo 2304862 RPS26P15 ribosomal protein S26 pseudogene 15 19123937,11181995 644928 NG_010340,AL445193,CH471059 EAX06635 RPS26_1_56 pseudo 2305717 RPS26P16 ribosomal protein S26 pseudogene 16 19123937 730177 NG_009599,AL139132 RPS26_3_133 pseudo 2304366 RPS26P17 ribosomal protein S26 pseudogene 17 19123937 391165 NG_011316,AC096638 RPS26_2_165 pseudo 2305082 RPS26P18 ribosomal protein S26 pseudogene 18 19123937 100271108 NG_009977,AC007738 RPS26_5_195 pseudo 2305080 RPS26P19 ribosomal protein S26 pseudogene 19 19123937 100271110 NG_009992,AC006011 RPS26_6_273 pseudo 2303671 RPS26P2 ribosomal protein S26 pseudogene 2 19123937 646753 NG_009772,AL353735 RPS26_19_971|bA98O11.1 pseudo 2305587 RPS26P20 ribosomal protein S26 pseudogene 20 19123937 644166 NG_010373,AC008065 RPS26_7_290 pseudo 2305085 RPS26P21 ribosomal protein S26 pseudogene 21 19123937 100271105 NG_009959,AC092981 RPS26_3_394 pseudo 2305078 RPS26P22 ribosomal protein S26 pseudogene 22 19123937 100271112 NG_010008,AC022336 RPS26_8_399 pseudo 2305083 RPS26P23 ribosomal protein S26 pseudogene 23 19123937 100271107 NG_009972,AC021205 RPS26_4_515 pseudo 2305077 RPS26P24 ribosomal protein S26 pseudogene 24 19123937 100271113 NG_010013,AC073196 RPS26_9_482 pseudo 2304857 RPS26P25 ribosomal protein S26 pseudogene 25 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPS26 gene, there is no evidence of transcription. The locus is thus being annotated as a pseudogene.[provided by RefSeq] 19123937,7945460 728937 NG_010542,AC004057,CH471057 EAX06294 RPS26_10_512 pseudo 2305081 RPS26P26 ribosomal protein S26 pseudogene 26 19123937 100271109 NG_009984,AC008897 RPS26_5_578 pseudo 2304928 RPS26P27 ribosomal protein S26 pseudogene 27 19123937 100271237 NG_010690,AC022493 RPS26_12_587 pseudo 2304393 RPS26P28 ribosomal protein S26 pseudogene 28 19123937,11181995 643003 NG_006027,AC010310,CH471102 EAX08019 RPS26_11_544 pseudo 2305732 RPS26P29 ribosomal protein S26 pseudogene 29 19123937 442158 NG_009788,AL138878 RPS26_6_653 pseudo 1605161 RPS26P3 ribosomal protein S26 pseudogene 3 19123937,10557312 441386 NG_004800,AL353638 RPS26_11_962|bA338L20.1 pseudo 2305079 RPS26P30 ribosomal protein S26 pseudogene 30 19123937 100271111 NG_009999,AC005251,CH236948 RPS26_7_791 pseudo 2305804 RPS26P31 ribosomal protein S26 pseudogene 31 19123937 645979 NG_009433,AC006463,CH236947 RPS26_8_840 pseudo 2305704 RPS26P32 ribosomal protein S26 pseudogene 32 19123937,12853948 389472 NG_004809,AC073072,CH236948 EAL24264 RPS26|RPS26_13_792 pseudo 2304926 RPS26P33 ribosomal protein S26 pseudogene 33 19123937 100271239 NG_010704,AC074121,CH236956 RPS26_14_825 pseudo 2305076 RPS26P34 ribosomal protein S26 pseudogene 34 19123937 100271114 NG_010018,AC090255 RPS26_9_922 pseudo 2304416 RPS26P35 ribosomal protein S26 pseudogene 35 19123937 441377 NG_010179,AP004217 RPS26_17_946 pseudo 2304925 RPS26P36 ribosomal protein S26 pseudogene 36 19123937 100271240 NG_010708,AC083982 RPS26_18_953 pseudo 2304927 RPS26P37 ribosomal protein S26 pseudogene 37 19123937 100271238 NG_010696,AL354893 RPS26_12_999 pseudo 2305103 RPS26P38 ribosomal protein S26 pseudogene 38 19123937 100129552 NG_010063,AL138767 RPS26_15_1076 pseudo 2305868 RPS26P39 ribosomal protein S26 pseudogene 39 19123937 100128168 NG_010876,AC012391 RPS26_21_1107 pseudo 1605445 RPS26P4 ribosomal protein S26 pseudogene 4 19123937 692146 NG_005578,AF121781 RPS26_32_1733 pseudo 2305855 RPS26P40 ribosomal protein S26 pseudogene 40 19123937 338611 NG_010929,AL358817 RPS26_20_1061 pseudo 2304542 RPS26P41 ribosomal protein S26 pseudogene 41 19123937 100271567 NG_011073,AL359074 RPS26_13_1064 pseudo 2304541 RPS26P42 ribosomal protein S26 pseudogene 42 19123937 100271568 NG_011080,AL392111 RPS26_14_1066 pseudo 2304538 RPS26P43 ribosomal protein S26 pseudogene 43 19123937 100271571 NG_011092,AP000926 RPS26_22_1185 pseudo 2304540 RPS26P44 ribosomal protein S26 pseudogene 44 19123937 100271569 NG_011083,AC005908 RPS26_16_1195 pseudo 2304539 RPS26P45 ribosomal protein S26 pseudogene 45 19123937 100271570 NG_011087,AC117502 RPS26_17_1256 pseudo 2304537 RPS26P46 ribosomal protein S26 pseudogene 46 19123937 100271572 NG_011095,AC023790 RPS26_23_1212 pseudo 2304868 RPS26P47 ribosomal protein S26 pseudogene 47 19123937,12853948 400156 NG_011410,AL136526 RPS26|RPS26L|RPS26_24_1332 pseudo 2304536 RPS26P48 ribosomal protein S26 pseudogene 48 19123937 100271574 NG_011106,AF099810 RPS26_26_1396 pseudo 2304535 RPS26P49 ribosomal protein S26 pseudogene 49 19123937 100271575 NG_011113,AL590326 RPS26_27_1414 pseudo 1343730 RPS26P5 ribosomal protein S26 pseudogene 5 19123937 387495 NG_009769,AP001346 RPS26_31_1718 pseudo 2304861 RPS26P50 ribosomal protein S26 pseudogene 50 19123937 644934 NG_010374,AC090543 RPS26_18_1443 pseudo 2304534 RPS26P51 ribosomal protein S26 pseudogene 51 19123937 100271576 NG_011117,AC022206 RPS26_28_1470 pseudo 2304533 RPS26P52 ribosomal protein S26 pseudogene 52 19123937 100271577 NG_011121,AC010401 RPS26_29_1475 pseudo 2304977 RPS26P53 ribosomal protein S26 pseudogene 53 19123937 728823 NG_011282,AC025518 RPS26_19_1511 pseudo 2305092 RPS26P54 ribosomal protein S26 pseudogene 54 19123937 100131971 NG_010682,AC098847 RPS26_21_1607 pseudo 2304972 RPS26P55 ribosomal protein S26 pseudogene 55 19123937 100129650 NG_010591,AC008747 RPS26_30_1651 pseudo 2304729 RPS26P56 ribosomal protein S26 pseudogene 56 19123937 100271400 NG_010217,AL022577 RPS26_23_1811 pseudo 2304728 RPS26P57 ribosomal protein S26 pseudogene 57 19123937 100271401 NG_010223,Z85995 RPS26_34_1808 pseudo 2304622 RPS26P58 ribosomal protein S26 pseudogene 58 19123937 729188 NG_005780,AC004552,CH471074 EAW99018 RPS26_33_1769 pseudo 1604430 RPS26P6 ribosomal protein S26 pseudogene 6 19123937 392256 NG_003189,AC027373 RPS26_10_933 pseudo 2303689 RPS26P7 ribosomal protein S26 pseudogene 7 19123937 619443 NG_009773,AC068522 HsT24280|RPS26_15_908 pseudo 2303880 RPS26P8 ribosomal protein S26 pseudogene 8 19123937 644191 NG_009394,AC126544,AC225613 RPS26_20_1551 pseudo 1353220 RPS26P9 ribosomal protein S26 pseudogene 9 19123937 446209 NG_009962,AL163195 RPS26_25_1338 pseudo 732460 RPS27 ribosomal protein S27 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S27E family of ribosomal proteins. It contains a C4-type zinc finger domain that can bind to zinc. The encoded protein has been shown to be able to bind to nucleic acid. It is located in the cytoplasm as a ribosomal component, but it has also been detected in the nucleus. Studies in rat indicate that ribosomal protein S27 is located near ribosomal protein S18 in the 40S subunit and is covalently linked to translation initiation factor eIF3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 16169070,19642098,20100468,8908372,8407955,15189156,12588972,8706699,15883184,18680479,18243099,17998396,17081983,16914586,16446370,15635413,15489334,15146197,12686615,12477932,12351790,12175529,11875025,9582194,8722009,7986747,7821789,20936779 6232 NM_001030,AB007162,AB061845,AL358472,CH471121,AK312070,AV763942,BC002658,BC070219,CD177656,CN304370,D28454,L19739,U57847 NP_001021,BAA25825,BAB79483,CAI14032,CAI14033,EAW53239,EAW53240,BAG35006,AAH02658,AAH70219,BAA05820,AAA59867,AAB02266,P42677,Q5T4L6 Hs.546291,Hs.654475 MPS-1|MPS1 40S ribosomal protein S27|metallopan-stimulin 1|metallopanstimulin 1|ribosomal protein S27 (metallopanstimulin 1)|ribosomal protein s27 protein-coding 736388 RPS27A ribosomal protein S27a Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq] 11285280,11931757,12609980,12787561,12791267,15029244,15721744,16997282,17207965,1660345,1657614,1370760,18655026,10217437,11438941,15883184,15189156,12588972,8706699,19061985,16189514,15936278,15761153,15647830,15489334,15231748,15146197,15143060,15039775,14764729,14755250,14702039,12960054,12477932,11875025,11733996,10995389,10772958,9582194,9373149,8722009,8125298,2581967,2538756,2537304,16169070,16344560,17304240,15276183,10882101,11231585 6233 NM_001135592,NM_002954,AB007163,AB061854,AC012358,CH471053,AK093614,AK225079,AK225718,AK315695,AY952889,BC001392,BC042362,BC053371,BC066293,BM907473,BQ276758,BQ421613,CK004647,CN344335,CR601272,CR604524,CR625989,M10939,S79522,X63237,BF678026,CR746519,DA527860,DB505702,NG_017017,NM_001177413 ADQ33198,NP_001129064,NP_002945,BAA25826,BAB79488,EAX00106,EAX00107,EAX00108,EAX00109,EAX00110,BAG38058,AAH01392,AAH42362,AAH53371,AAH66293,AAA36788,AAB21188,CAA44911,P62979,Q49A90,Q5RKT7,Q8WYN9,NP_001170884 Hs.546292,Hs.311640 CEP80|HUBCEP80|UBA80|UBCEP1|UBCEP80 40S ribosomal protein S27a|OTTHUMP00000200786|OTTHUMP00000201692|ubiquitin and ribosomal protein S27a|ubiquitin carboxyl extension protein 80|ubiquitin-40S ribosomal protein S27a|ubiquitin-CEP80 protein-coding 1353685 RPS27AP1 ribosomal protein S27a pseudogene 1 19123937,10772958 103911 NG_000960,AC005291,AC083783 RPS27AP|RPS27A_6_1513 pseudo 2304775 RPS27AP10 ribosomal protein S27a pseudogene 10 19123937 100271377 NG_009844,AC008781 RPS27A_3_621 pseudo 2305344 RPS27AP11 ribosomal protein S27a pseudogene 11 19123937 728590 NG_010049,AL357519 RPS27A_4_740 pseudo 2305896 RPS27AP12 ribosomal protein S27a pseudogene 12 19123937 100130446 NG_010744,AC004898,CH236954 RPS27A_5_866 pseudo 2304350 RPS27AP13 ribosomal protein S27a pseudogene 13 19123937 100130300 NG_011310,AC113194 RPS27A_4_904 pseudo 2304774 RPS27AP14 ribosomal protein S27a pseudogene 14 19123937 100271378 NG_010076,AL356498 RPS27A_5_955 pseudo 2304773 RPS27AP15 ribosomal protein S27a pseudogene 15 19123937 100271379 NG_010082,AL591662 RPS27A_6_985 pseudo 2305880 RPS27AP16 ribosomal protein S27a pseudogene 16 19123937 643358 NG_010157,AC026473 RPS27A_8_1488 pseudo 2305482 RPS27AP17 ribosomal protein S27a pseudogene 17 19123937 392425 NG_011207,AC130893,CH471074 EAW98745 RPS27A_9_1763 pseudo 1606153 RPS27AP2 ribosomal protein S27a pseudogene 2 19123937 140752 NG_000995,AL031664 RPS27A_7_1686|dJ531H16.4 pseudo 1346749 RPS27AP3 ribosomal protein S27a pseudogene 3 19123937 140714 NG_000985,AL391114 RPS27AP|RPS27A_8_1699|bA332A4.3 pseudo 1348750 RPS27AP4 ribosomal protein S27a pseudogene 4 19123937 326323 NG_002573,AL356015 RPS27A_7_1343 pseudo 2304778 RPS27AP5 ribosomal protein S27a pseudogene 5 19123937 100271374 NG_010047,AL136454 RPS27A_1_141 pseudo 2305048 RPS27AP6 ribosomal protein S27a pseudogene 6 19123937 100271144 NG_010216,AL355860 RPS27A_1_97 pseudo 2304854 RPS27AP7 ribosomal protein S27a pseudogene 7 19123937 728971 NG_010726,AC079807 RPS27A_2_217 pseudo 2304777 RPS27AP8 ribosomal protein S27a pseudogene 8 19123937 100271375 NG_010054,AC092964 RPS27A_2_437 pseudo 2304776 RPS27AP9 ribosomal protein S27a pseudogene 9 19123937 100271376 NG_010060,AC008771 RPS27A_3_585 pseudo 1344574 RPS27L ribosomal protein S27-like This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. 17207965,15489334,12477932,11042152,17057733,18056458 51065 NM_015920,AC087612,CH471082,AF070668,AK024591,AW013916,BC003667,BC031307,BC047648 ADQ33191,NP_057004,EAW77639,EAW77640,AAD20974,AAH03667,Q71UM5 Hs.108957 40S ribosomal protein S27-like|OTTHUMP00000207682|OTTHUMP00000207683|OTTHUMP00000207684 protein-coding 1349846 RPS27P1 ribosomal protein S27 pseudogene 1 19123937 414228 NG_010089,AL161798 FLJ37306|RPS27_10_1079|bA108M11.3 pseudo 2305687 RPS27P10 ribosomal protein S27 pseudogene 10 19123937 646233 NG_009589,AC013404 RPS27_2_322 pseudo 2305075 RPS27P11 ribosomal protein S27 pseudogene 11 19123937 100271115 NG_010022,AC098614 RPS27_3_353 pseudo 2305073 RPS27P12 ribosomal protein S27 pseudogene 12 19123937 100271117 NG_010035,AC135587 RPS27_4_403 pseudo 2304479 RPS27P13 ribosomal protein S27 pseudogene 13 19123937 100130070 NG_010105,AC098583 RPS27_6_465 pseudo 2305455 RPS27P14 ribosomal protein S27 pseudogene 14 19123937 100129279 NG_011327,AC145146 RPS27_7_572 pseudo 2305072 RPS27P15 ribosomal protein S27 pseudogene 15 19123937 100271118 NG_010046,AL121972 RPS27_8_714 pseudo 2305071 RPS27P16 ribosomal protein S27 pseudogene 16 19123937 100271119 NG_010053,AC007036 RPS27_9_801 pseudo 2305121 RPS27P17 ribosomal protein S27 pseudogene 17 19123937 392748 NG_005350,AC002075,CH236949 EAL24141 RPS27_5_819 pseudo 2304772 RPS27P18 ribosomal protein S27 pseudogene 18 19123937 100271380 NG_010087,AL929444 RPS27_6_1109 pseudo 2304620 RPS27P19 ribosomal protein S27 pseudogene 19 19123937 100129905 NG_010583,AP000936 RPS27_7_1180 pseudo 2303443 RPS27P2 ribosomal protein S27 pseudogene 2 19123937 654390 NG_002690,AC090602 HsT16324|RPS27_11_1420 pseudo 2304532 RPS27P20 ribosomal protein S27 pseudogene 20 19123937 100271581 NG_011143,AP003500 RPS27_11_1188 pseudo 2305097 RPS27P21 ribosomal protein S27 pseudogene 21 19123937 100131905 NG_010348,AC089982 RPS27_9_1229 pseudo 2305532 RPS27P22 ribosomal protein S27 pseudogene 22 19123937 100131418 NG_010471,AC087241 RPS27_12_1218 pseudo 2305781 RPS27P23 ribosomal protein S27 pseudogene 23 19123937 100130775 NG_011114,AC063948 RPS27_13_1271 pseudo 2305598 RPS27P24 ribosomal protein S27 pseudogene 24 19123937 100133668 NG_010194,AC084357 RPS27_10_1247 pseudo 2304530 RPS27P25 ribosomal protein S27 pseudogene 25 19123937 100271584 NG_011158,AC003982 RPS27_14_1288 pseudo 2304531 RPS27P26 ribosomal protein S27 pseudogene 26 19123937 100271583 NG_011154,AC012184 RPS27_12_1494 pseudo 2304529 RPS27P27 ribosomal protein S27 pseudogene 27 19123937 100271585 NG_011161,AC106793 RPS27_15_1487 pseudo 2304528 RPS27P28 ribosomal protein S27 pseudogene 28 19123937 100271586 NG_011166,AC012123 RPS27_16_1593 pseudo 2304730 RPS27P29 ribosomal protein S27 pseudogene 29 19123937 100132291 NG_011011,AC073544 RPS27_17_1641 pseudo 1605744 RPS27P3 ribosomal protein S27 pseudogene 3 19123937,15869325 654365 NG_005391,AC005912,DQ052670 RPS27_8_1194 pseudo 1605793 RPS27P4 ribosomal protein S27 pseudogene 4 19123937 389112 NG_005671,AC099560 RPS27_5_366 pseudo 2305074 RPS27P5 ribosomal protein S27 pseudogene 5 19123937 100271116 NG_010030,AL365444 RPS27_4_170 pseudo 2304476 RPS27P6 ribosomal protein S27 pseudogene 6 19123937 100132488 NG_009590,BX679664 RPS27_2_83 pseudo 2305330 RPS27P7 ribosomal protein S27 pseudogene 7 19123937 100131787 NG_011053,BX248409 RPS27_3_126 pseudo 2305540 RPS27P8 ribosomal protein S27 pseudogene 8 19123937 653805 NG_009601,AC099336 RPS27_1_148 pseudo 2305491 RPS27P9 ribosomal protein S27 pseudogene 9 19123937 100131572 NG_009591,AL034379,CH471059 EAX07337 RPS27_1_33 pseudo 735338 RPS28 ribosomal protein S28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17353931,18697920,15189156,12588972,8706699,15883184,16344560,16189514,16169070,15489334,12477932,11875025,9582194,8722009,8415000 6234 AK301638,NM_001031,AB007164,AB061846,AC010323,CH471139,AK293636,AK311925,AU126783,BC000354,BC018810,BC021239,BC070217,BC070218,CR457055,CR603137,CR606185,L05091,U58682,FB342959,FB711082 BAG63119,NP_001022,BAA28594,BAB79484,EAW68933,EAW68934,BAG57092,BAG34866,AAH00354,AAH21239,AAH70217,AAH70218,CAG33336,AAC15855,AAB07066,P62857,ABM82283,ABM85464,CAR81480,CAS91496 Hs.153177,Hs.322473 40S ribosomal protein S28 protein-coding 1606050 RPS28P1 ribosomal protein S28 pseudogene 1 652980 NG_005981,AL161670,AL162832 pseudo 2305070 RPS28P2 ribosomal protein S28 pseudogene 2 19123937 100271120 NG_010059,AC104333 RPS28_1_163 pseudo 2304984 RPS28P3 ribosomal protein S28 pseudogene 3 19123937 644862 NG_005978,AL359510 RPS28_2_172 pseudo 2305839 RPS28P4 ribosomal protein S28 pseudogene 4 19123937,9847074 645899 NG_005979,AC018738 RPS28_1_332 pseudo 2305069 RPS28P5 ribosomal protein S28 pseudogene 5 19123937 100271121 NG_010066,AC007387 RPS28_3_243 pseudo 2305464 RPS28P6 ribosomal protein S28 pseudogene 6 19123937 728453 NG_010692,AC005011,CH236952 RPS28_2_814 pseudo 2305722 RPS28P7 ribosomal protein S28 pseudogene 7 19123937 646195 NG_005980,AP002796 RPS28_3_1160 pseudo 2304771 RPS28P8 ribosomal protein S28 pseudogene 8 19123937 100271381 NG_010096,AL442203 RPS28_4_1309 pseudo 2305799 RPS28P9 ribosomal protein S28 pseudogene 9 19123937 650788 NG_010195,AC107983 RPS28_5_1524 pseudo 734258 RPS29 ribosomal protein S29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17353931,15883184,8781548,15189156,18029348,12588972,8706699,15489334,12625830,12477932,11875025,11751223,10708601,9582194,8722009,7772601 6235 U14973,NM_001032,NM_001030001,AB007165,AB061847,AC019065,AL139099,CH471078,CS185573,AA410525,AB055780,AK026649,BC015974,BC032813,BC035313,BF128896,BQ433530,L31610 AAA85661,P62273,ABM87684,ABW03911,NP_001023,NP_001025172,BAA25827,BAB79485,EAW65765,EAW65766,CAJ42754,BAB62874,AAH15974,AAH32813,AAH35313,AAB27426 Hs.156367 40S ribosomal protein S29 protein-coding 1348455 RPS29P1 ribosomal protein S29 pseudogene 1 19123937 122449 NG_002523,AL117694,AL391262 RPS29_5_1384 pseudo 2304968 RPS29P10 ribosomal protein S29 pseudogene 10 19123937 100132037 NG_011022,AC016727 RPS29_1_224 pseudo 2304621 RPS29P11 ribosomal protein S29 pseudogene 11 19123937 100129902 NG_010569,AC092436 RPS29_8_466 pseudo 2305640 RPS29P12 ribosomal protein S29 pseudogene 12 19123937 100131173 NG_010523,AC091874 RPS29_9_646 pseudo 2305068 RPS29P13 ribosomal protein S29 pseudogene 13 19123937 100271122 NG_010075,AL355358 RPS29_2_744 pseudo 2305098 RPS29P14 ribosomal protein S29 pseudogene 14 19123937 100129599 NG_010334,AC074338 RPS29_3_802 pseudo 2304924 RPS29P15 ribosomal protein S29 pseudogene 15 19123937 100271241 NG_010712,AC118759 RPS29_10_826 pseudo 2304474 RPS29P16 ribosomal protein S29 pseudogene 16 19123937 100132499 NG_009436,AC004668 RPS29_11_830 pseudo 2305336 RPS29P17 ribosomal protein S29 pseudogene 17 19123937 100129379 NG_010514,AL133476 RPS29_13_976 pseudo 2305914 RPS29P18 ribosomal protein S29 pseudogene 18 19123937 643284 NG_011384,AL161787 RPS29_14_993 pseudo 2304770 RPS29P19 ribosomal protein S29 pseudogene 19 19123937 100271383 AP003170,NG_010109 RPS29_4_1178 pseudo 2303688 RPS29P2 ribosomal protein S29 pseudogene 2 19123937 619452 NG_009781,AC104393 HsT23291|RPS29_12_897 pseudo 2304527 RPS29P20 ribosomal protein S29 pseudogene 20 19123937 100271587 NG_011171,AC087441 RPS29_15_1116 pseudo 2305104 RPS29P21 ribosomal protein S29 pseudogene 21 19123937 100129542 NG_009996,AC004686 RPS29_16_1562 pseudo 2304769 RPS29P22 ribosomal protein S29 pseudogene 22 19123937 100271384 NG_010116,AC100852 RPS29_6_1530 pseudo 2304526 RPS29P23 ribosomal protein S29 pseudogene 23 19123937 100271588 NG_011175,AC008758 RPS29_17_1627 pseudo 2304525 RPS29P24 ribosomal protein S29 pseudogene 24 19123937 100271589 NG_011180,AC011500 RPS29_18_1653 pseudo 2304524 RPS29P25 ribosomal protein S29 pseudogene 25 19123937 100271590 NG_011183,AC011500 RPS29_19_1654 pseudo 2304523 RPS29P26 ribosomal protein S29 pseudogene 26 19123937 100271591 NG_011188,AC005205 RPS29_20_1655 pseudo 2304522 RPS29P27 ribosomal protein S29 pseudogene 27 19123937 100271592 NG_011193,AC006133 RPS29_21_1656 pseudo 2304727 RPS29P28 ribosomal protein S29 pseudogene 28 19123937 100271402 NG_010227,AL022151 RPS29_22_1795 pseudo 2303317 RPS29P3 ribosomal protein S29 pseudogene 3 19123937 642892 NG_009392,AC092933 RPS29_7_451|bcm2758 pseudo 2305067 RPS29P4 ribosomal protein S29 pseudogene 4 19123937 100271123 NG_010081,AL008626 RPS29_3_129 pseudo 2305066 RPS29P5 ribosomal protein S29 pseudogene 5 19123937 100271124 NG_010086,AL513329 RPS29_4_130 pseudo 2305325 RPS29P6 ribosomal protein S29 pseudogene 6 19123937 100270903 NG_010290,AL033524 RPS29_1_32 pseudo 2305785 RPS29P7 ribosomal protein S29 pseudogene 7 19123937 100128377 NG_010628,AC099680 RPS29_2_60 pseudo 2304610 RPS29P8 ribosomal protein S29 pseudogene 8 19123937 100132376 NG_010119,AC017080 RPS29_5_283 pseudo 2305800 RPS29P9 ribosomal protein S29 pseudogene 9 19123937 648343 NG_009588,AC079767 RPS29_6_317 pseudo 1347616 RPS2P1 ribosomal protein S2 pseudogene 1 19123937 140755 NG_000998,AL031668 RPS2_26_1696|dJ64K7.1 pseudo 2305520 RPS2P10 ribosomal protein S2 pseudogene 10 19123937 401974 NG_010287,AL356441 RPS2_4_110 pseudo 2304375 RPS2P11 ribosomal protein S2 pseudogene 11 19123937 343184 NG_010755,AL596275 RPS2_3_47 pseudo 2305721 RPS2P12 ribosomal protein S2 pseudogene 12 19123937 650901 NG_010789,AL663070 RPS2_2_35 pseudo 2305449 RPS2P13 ribosomal protein S2 pseudogene 13 19123937 100270826 NG_011208,AL929472 RPS2_1_34 pseudo 2305448 RPS2P14 ribosomal protein S2 pseudogene 14 19123937 100270827 NG_011213,AL133517 RPS2_2_88 pseudo 2305421 RPS2P15 ribosomal protein S2 pseudogene 15 19123937 100270858 NG_010017,AC011742 RPS2_3_202 pseudo 2305419 RPS2P16 ribosomal protein S2 pseudogene 16 19123937 100270860 NG_010029,AC007279 RPS2_8_310 pseudo 2305888 RPS2P17 ribosomal protein S2 pseudogene 17 19123937 400963 NG_010359,AC022210 RPS2_6_247 pseudo 2305657 RPS2P18 ribosomal protein S2 pseudogene 18 19123937 643960 NG_010622,AC092573 RPS2_7_293 pseudo 2305420 RPS2P19 ribosomal protein S2 pseudogene 19 19123937 100270859 NG_010021,AC063955 RPS2_4_428 pseudo 1344279 RPS2P2 ribosomal protein S2 pseudogene 2 19123937,9847074 326325 NG_002575,AC005519 RPS2_17_1389 pseudo 2304742 RPS2P20 ribosomal protein S2 pseudogene 20 19123937 645018 NG_010814,AC097658 RPS2_7_524 pseudo 2304748 RPS2P21 ribosomal protein S2 pseudogene 21 19123937 441013 NG_010939,AC098590 RPS2_5_473 pseudo 2305418 RPS2P22 ribosomal protein S2 pseudogene 22 19123937 100270861 NG_010034,AC034222 RPS2_9_556 pseudo 2305318 RPS2P23 ribosomal protein S2 pseudogene 23 19123937 100270910 NG_010324,AC025186 RPS2_10_570 pseudo 2305316 RPS2P24 ribosomal protein S2 pseudogene 24 19123937 100270912 NG_010336,AC010234 RPS2_11_579 pseudo 2305315 RPS2P25 ribosomal protein S2 pseudogene 25 19123937 100270913 NG_010344,AC026414 RPS2_12_592 pseudo 2305653 RPS2P26 ribosomal protein S2 pseudogene 26 19123937 643992 NG_010802,AC008494 RPS2_8_601 pseudo 2305476 RPS2P27 ribosomal protein S2 pseudogene 27 19123937 440447 NG_011372,AC104619 RPS2_6_520 pseudo 2304380 RPS2P28 ribosomal protein S2 pseudogene 28 19123937 100132673 NG_010349,AL583834,AL590383 RPS2_13_694 pseudo 2305684 RPS2P29 ribosomal protein S2 pseudogene 29 19123937 646294 NG_010793,AL355802 RPS2_9_695 pseudo 1343719 RPS2P3 ribosomal protein S2 pseudogene 3 19123937 326326 NG_002576,AL133368 RPS2_19_1406 pseudo 2305317 RPS2P30 ribosomal protein S2 pseudogene 30 19123937 100270911 NG_010330,AC005105,CH236948 RPS2_10_800 pseudo 2305120 RPS2P31 ribosomal protein S2 pseudogene 31 19123937,12690205,9847074 392781 NG_006979,AC005521,CH236947 EAL24326 RPS2_15_841 pseudo 2306133 RPS2P32 ribosomal protein S2 pseudogene 32 19123937,12477932 256355 BC026177,NR_026676,AC023105,AC079780,CH236948 Hs.367935 RPS2_14_794 pseudo 2305741 RPS2P33 ribosomal protein S2 pseudogene 33 19123937 286150 NG_011027,AP002982 RPS2_11_929 pseudo 2305626 RPS2P34 ribosomal protein S2 pseudogene 34 19123937 442426 NG_010308,AL158047 RPS2_16_990 pseudo 2305711 RPS2P35 ribosomal protein S2 pseudogene 35 19123937 100130980 NG_010860,AL137072 RPS2_12_1000 pseudo 2304923 RPS2P36 ribosomal protein S2 pseudogene 36 19123937 100271243 NG_010724,AL138765 RPS2_13_1085 pseudo 2305231 RPS2P37 ribosomal protein S2 pseudogene 37 19123937 390206 NG_010329,AP003733 RPS2_14_1147 pseudo 2304874 RPS2P38 ribosomal protein S2 pseudogene 38 19123937 196188 NG_010483,AC068472 RPS2_18_1126 pseudo 2304922 RPS2P39 ribosomal protein S2 pseudogene 39 19123937 100271244 NG_010729,AP002453 RPS2_15_1171 pseudo 1352236 RPS2P4 ribosomal protein S2 pseudogene 4 19123937 92427 NG_002522,AL590326 RPS2_20_1415 pseudo 2305826 RPS2P40 ribosomal protein S2 pseudogene 40 19123937,11181995 91561 NG_005977,AC107956,CH471064 EAW68442,EAW68443,EAW68444,EAW68445 RPS2_17_1125 pseudo 2304921 RPS2P41 ribosomal protein S2 pseudogene 41 19123937 100271245 NG_010735,AC003029 RPS2_16_1278 pseudo 2304919 RPS2P42 ribosomal protein S2 pseudogene 42 19123937 100271247 NG_010746,AC092183 RPS2_19_1214 pseudo 2304920 RPS2P43 ribosomal protein S2 pseudogene 43 19123937 100271246 NG_010741,AF107885 RPS2_18_1391 pseudo 2304918 RPS2P44 ribosomal protein S2 pseudogene 44 19123937 100271248 NG_010753,AC026470 RPS2_21_1482 pseudo 1605038 RPS2P45 ribosomal protein S2 pseudogene 45 19123937,14702039,12477932 80052 NG_006666,AC009027,BC104819,BC104821 Q9HA33 Hs.661121 MGC132479|MGC132481|RPS2_21_1492 pseudo 2305771 RPS2P46 ribosomal protein S2 pseudogene 46 19123937 125208 NG_002360,AC004448 RPS2_22_1525 pseudo 2305511 RPS2P47 ribosomal protein S2 pseudogene 47 19123937 644388 NG_011344,AC002558 RPS2_25_1553 pseudo 2304629 RPS2P48 ribosomal protein S2 pseudogene 48 19123937 645173 NG_010280,AC034268 RPS2_26_1559 pseudo 2304916 RPS2P49 ribosomal protein S2 pseudogene 49 19123937 100271251 NG_010770,AC016482 RPS2_24_1542 pseudo 2303342 RPS2P5 ribosomal protein S2 pseudogene 5 19123937 100130562 NG_009505,AC026366,CH471054 EAW98136 RPS2_20_1284|bcm384 pseudo 2305835 RPS2P50 ribosomal protein S2 pseudogene 50 19123937 729842 NG_011388,AC003042 RPS2_23_1541 pseudo 2305903 RPS2P51 ribosomal protein S2 pseudogene 51 19123937 729679 NG_010424,AC020917 RPS2_25_1632 pseudo 2304917 RPS2P52 ribosomal protein S2 pseudogene 52 19123937 100271250 NG_010764,AC112708 RPS2_23_1615 pseudo 2304486 RPS2P53 ribosomal protein S2 pseudogene 53 19123937 729274 NG_010961,AC012618 RPS2_24_1626 pseudo 2304915 RPS2P54 ribosomal protein S2 pseudogene 54 19123937 100271252 NG_010778,AL049540 RPS2_28_1709 pseudo 2305634 RPS2P55 ribosomal protein S2 pseudogene 55 19123937 286444 NG_011221,AC092268 RPS2_29_1773 pseudo 1353342 RPS2P6 ribosomal protein S2 pseudogene 6 19123937 342808 NG_005666,AC091305 RPS2_22_1612 pseudo 1352846 RPS2P7 ribosomal protein S2 pseudogene 7 19123937 86781 NG_000946,AL031671 RPS2L1|RPS2_27_1706|dJ688G8.1 pseudo 2305363 RPS2P8 ribosomal protein S2 pseudogene 8 19123937 440589 NG_010039,AL162430 RPS2_1_48 pseudo 2305215 RPS2P9 ribosomal protein S2 pseudogene 9 19123937 100131866 NG_010131,AC096631 RPS2_5_144 pseudo 736568 RPS3 ribosomal protein S3 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 20217897,16314389,16737853,18045535,11911468,18464793,15518571,16814409,15950189,15883184,1712897,14988002,17049931,17560175,15189156,12588972,8706699,19088750,19059439,17179743,17140567,16807684,16565220,15489334,15302935,12477932,11943484,11875025,9582194,9373149,8722009,8319909,8125298,7789996,7775413,2129557,1742346,16169070,18973764,17220478,20709134,17289661,17643375,19458393,19460357,19656744 6188 NM_001005,AB061838,AF281313,AP000744,AY791291,CH471076,L16016,AB062288,AK129794,AK130960,AK223048,AK313051,BC003137,BC003577,BC013196,BC013231,BC029981,BC034149,BC071669,BC071917,BC100284,BC150501,CR591204,CR593831,CR595698,CR597126,CR598084,CR598363,CR599018,CR599459,CR606914,CR607881,CR608382,CR609618,CR610850,CR610898,CR611021,CR611679,CR617487,CR619698,CR620201,CR620902,CR623585,S42658,U14990,U14991,U14992,X55715 NP_000996,BAB79476,AAF82383,AAV40835,EAW74963,AAA18095,BAB93471,BAD96768,BAG35882,AAH03137,AAH03577,AAH13196,AAH34149,AAH71917,AAI00285,AAI50502,AAB19349,AAB60336,AAB60337,AAB60338,CAA39248,P23396,Q53G83,Q9NQS8,ABM83814,ABM87135 Hs.546286 FLJ26283|FLJ27450|MGC87870 40S ribosomal protein S3|IMR-90 ribosomal protein S3 protein-coding 1348881 RPS3A ribosomal protein S3A Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. Transcript variants utilizing alternative transcription start sites have been described. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 17289661,18809582,1398113,11823430,9566973,15189156,12588972,8706699,15883184,15572026,17081983,16964243,16385451,16169070,15889794,15592455,15489334,15231748,15047060,12690205,12477932,12463423,11790298,11790116,10713066,9582194,9573378,8877097,8722009,8647443,8076819,7821789,19019082,17353931,14499622 6189 NM_001006,AB007148,BC019072,BC030161,BC066926,BC070211,BC071916,BQ055367,D16953,D16985,D17120,D28374,L13802,M77234,M84711,AC095055,CH471056,X87373,AK129825,AK291075,AK308947,AK311788,BC000204,BC001708,BC004981,BC006298,BC009219,BC009404,BC017123,BC018954 NP_000997,AAH19072,AAH30161,AAH66926,AAH70211,AAH71916,BAA05740,AAA35682,AAA60290,AAA58487,P61247,Q6NXR8,ABM82069,ABM85248,BAA25814,EAX04988,EAX04989,EAX04990,EAX04991,EAX04992,EAX04993,EAX04994,EAX04995,CAA60827,BAF83764,BAG34731,AAH00204,AAH01708,AAH04981,AAH06298,AAH09219,AAH09404,AAH17123 Hs.356572 FTE1|MFTL|MGC23240 40S ribosomal protein S3a|OTTHUMP00000220242|OTTHUMP00000220245|OTTHUMP00000220248|OTTHUMP00000220249|OTTHUMP00000220250|OTTHUMP00000220252|OTTHUMP00000220253|fte-1|v-fos transformation effector protein 1 protein-coding 1351018 RPS3AP1 ribosomal protein S3A pseudogene 1 10830953 54023 NG_000904,AP001254,AP001679 RPS3AP pseudo 2305519 RPS3AP10 ribosomal protein S3a pseudogene 10 19123937 401975 NG_010293,AL606495 RPS3A_2_114 pseudo 2305324 RPS3AP11 ribosomal protein S3a pseudogene 11 19123937 100270904 NG_010295,AL445669 RPS3A_1_40 pseudo 2305323 RPS3AP12 ribosomal protein S3a pseudogene 12 19123937 100270905 NG_010299,AL359823 RPS3A_1_92 pseudo 2304623 RPS3AP14 ribosomal protein S3a pseudogene 14 19123937 729150 NG_010327,AC092902 RPS3A_7_401 pseudo 2304388 RPS3AP15 ribosomal protein S3a pseudogene 15 19123937 652670 NG_010655,AC133041 RPS3A_2_382 pseudo 2305651 RPS3AP16 ribosomal protein S3a pseudogene 16 19123937,9847074 727951 NG_010748,AC116562 RPS3A_3_456 pseudo 2305061 RPS3AP17 ribosomal protein S3a pseudogene 17 19123937 100271130 NG_010127,AC106868 RPS3A_4_467 pseudo 2305737 RPS3AP18 ribosomal protein S3a pseudogene 18 19123937 391706 NG_010134,AC023424 RPS3A_5_528 pseudo 2305108 RPS3AP19 ribosomal protein S3a pseudogene 19 19123937,9847074 728700 NG_009562,AC116655 RPS3A_8_458 pseudo 1353742 RPS3AP2 ribosomal protein S3A pseudogene 2 19123937 64725 NG_009483,AL031705 KIAA0590|RPS3A_21_1466 pseudo 2305660 RPS3AP20 ribosomal protein S3a pseudogene 20 19123937 643932 NG_010482,AC020898 RPS3A_6_581 pseudo 2306134 RPS3AP21 ribosomal protein S3a pseudogene 21 19123937 402287 NG_006521,AC010468 RPS3A_7_600 pseudo 2305779 RPS3AP22 ribosomal protein S3a pseudogene 22 19123937 100130786 NG_011168,AC091826 RPS3A_9_594 pseudo 2305060 RPS3AP23 ribosomal protein S3a pseudogene 23 19123937 100271131 NG_010136,AL356794 RPS3A_8_764 pseudo 2304914 RPS3AP24 ribosomal protein S3a pseudogene 24 19123937 100271253 NG_010784,AL591400 RPS3A_10_762 pseudo 2306149 RPS3AP25 ribosomal protein S3a pseudogene 25 19123937,12690205 645968 NG_005352,AC069292,CH236949 EAL24135 RPS3A_9_820 pseudo 2304860 RPS3AP26 ribosomal protein S3a pseudogene 26 19123937,12853948 644972 NG_006069,AC093799,CH236956 RPS3A_11_824 pseudo 2304912 RPS3AP27 ribosomal protein S3a pseudogene 27 19123937 100271255 NG_010795,AC007790,CH236950 RPS3A_12_850 pseudo 2304910 RPS3AP28 ribosomal protein S3a pseudogene 28 19123937 100271257 NG_010807,AC013429,CH236950 RPS3A_13_855 pseudo 2305460 RPS3AP29 ribosomal protein S3a pseudogene 29 19123937 730861 NG_011230,AC079781 RPS3A_10_823 pseudo 1344214 RPS3AP3 ribosomal protein S3A pseudogene 3 140713 NG_000984,AL391114 bA332A4.2 pseudo 2304913 RPS3AP30 ribosomal protein S3a pseudogene 30 19123937 100271254 NG_010791,AF228730 RPS3A_11_871 pseudo 2304911 RPS3AP31 ribosomal protein S3a pseudogene 31 19123937 100271256 NG_010800,AC105233 RPS3A_12_873 pseudo 2304909 RPS3AP32 ribosomal protein S3a pseudogene 32 19123937 100271258 NG_010813,AC087672 RPS3A_13_917 pseudo 2304908 RPS3AP33 ribosomal protein S3a pseudogene 33 19123937 100271259 NG_010816,AF228730 RPS3A_14_872 pseudo 2304907 RPS3AP34 ribosomal protein S3a pseudogene 34 19123937 100271260 NG_010820,AC068587 RPS3A_15_876 pseudo 2304906 RPS3AP35 ribosomal protein S3a pseudogene 35 19123937 100271261 NG_010825,AC068587 RPS3A_16_877 pseudo 2305654 RPS3AP36 ribosomal protein S3a pseudogene 36 19123937 643981 NG_010737,AL356632 RPS3A_16_1083 pseudo 2304521 RPS3AP37 ribosomal protein S3a pseudogene 37 19123937 100271593 NG_011202,AL513534 RPS3A_14_1056 pseudo 2304520 RPS3AP38 ribosomal protein S3a pseudogene 38 19123937 100271594 NG_011211,AL356741 RPS3A_17_1053 pseudo 2305343 RPS3AP39 ribosomal protein S3a pseudogene 39 19123937 730993 NG_010582,AC127526 RPS3A_18_1114 pseudo 2303450 RPS3AP4 ribosomal protein S3A pseudogene 4 100132142 NG_009833,AL133163,AL160231 pseudo 2305495 RPS3AP40 ribosomal protein S3a pseudogene 40 19123937 100129199 NG_010912,AC004924 RPS3A_19_1151 pseudo 2304519 RPS3AP41 ribosomal protein S3a pseudogene 41 19123937 100271595 NG_011216,AP003498 RPS3A_17_1152 pseudo 2304517 RPS3AP42 ribosomal protein S3a pseudogene 42 19123937 100271597 NG_011229,AP000805 RPS3A_20_1165 pseudo 2305650 RPS3AP43 ribosomal protein S3a pseudogene 43 19123937 727970 NG_010849,AC092865 RPS3A_21_1203 pseudo 2305585 RPS3AP44 ribosomal protein S3a pseudogene 44 19123937 646527 NG_010660,AL353789 RPS3A_18_1305 pseudo 2304518 RPS3AP46 ribosomal protein S3a pseudogene 46 19123937 100271596 NG_011220,AL163953 RPS3A_19_1365 pseudo 2304516 RPS3AP47 ribosomal protein S3a pseudogene 47 19123937 146053 NG_010693,AC068724 RPS3A_22_1428 pseudo 2304354 RPS3AP48 ribosomal protein S3a pseudogene 48 19123937 100127963 NG_011131,AC074051 RPS3A_22_1469 pseudo 2304396 RPS3AP49 ribosomal protein S3a pseudogene 49 19123937 400652 NG_010032,AC090771 RPS3A_23_1608 pseudo 1345978 RPS3AP5 ribosomal protein S3A pseudogene 5 19123937 439992 NG_009792,AL356115 RPS3A_15_1074|bA486O22.3 pseudo 2304472 RPS3AP50 ribosomal protein S3a pseudogene 50 19123937 100271601 NG_011245,AC008738 RPS3A_24_1646 pseudo 2304473 RPS3AP51 ribosomal protein S3a pseudogene 51 19123937 100271600 NG_011242,AC003071 RPS3A_23_1744 pseudo 1606710 RPS3AP6 ribosomal protein S3A pseudogene 6 19123937 145767 NG_004861,AC092079 RPS3A-like|RPS3A_20_1440 pseudo 2304365 RPS3AP7 ribosomal protein S3a pseudogene 7 19123937 391168 NG_009958,AL359704 RPS3A_5_169 pseudo 2305063 RPS3AP8 ribosomal protein S3a pseudogene 8 19123937 100271127 NG_010108,AL356981 RPS3A_3_138 pseudo 2305062 RPS3AP9 ribosomal protein S3a pseudogene 9 19123937 100271129 NG_010121,BX005030 RPS3A_4_140 pseudo 1344634 RPS3L1 ribosomal protein S3-like 1, G1-phase expressed 8123253 6190 1346563 RPS3P1 ribosomal protein S3 pseudogene 1 140754 NG_000997,AL117333 dJ631M13.3 pseudo 1352991 RPS3P2 ribosomal protein S3 pseudogene 2 19123937 140761 NG_001004,AL049868 RPS3_4_1701|dJ927M24.3 pseudo 2304867 RPS3P3 ribosomal protein S3 pseudogene 3 19123937 440991 NG_010838,AC131235 RPS3_1_443 pseudo 2305417 RPS3P4 ribosomal protein S3 pseudogene 4 19123937 100270862 NG_010045,AL139095 RPS3_1_652 pseudo 2305094 RPS3P5 ribosomal protein S3 pseudogene 5 19123937 100131956 NG_010604,AL137784 RPS3_2_726 pseudo 2304743 RPS3P6 ribosomal protein S3 pseudogene 6 19123937 645000 NG_010709,AC078872 RPS3_2_1244 pseudo 2305807 RPS3P7 ribosomal protein S3 pseudogene 7 19123937 645957 NG_011363,AC136603 RPS3_3_1501 pseudo 1342924 RPS4L ribosomal protein S4-like 128580 NG_000967,AL137162 RPS4L|RPS4P3|dJ843L14.2 pseudo 2303322 RPS4P1 ribosomal protein S4 pseudogene 1 19123937 400064 NG_009506,AC126474 RPS4P1|RPS4X_6_1269 pseudo 2305058 RPS4P10 ribosomal protein S4X pseudogene 10 19123937 100271133 NG_010150,AP003534 RPS4P10|RPS4X_6_927 pseudo 2304361 RPS4P11 ribosomal protein S4X pseudogene 11 19123937 441550 NG_011069,AL161932 RPS4P11|RPS4X_2_1029 pseudo 2304768 RPS4P12 ribosomal protein S4X pseudogene 12 19123937 100271385 NG_010122,AP001124 RPS4P12|RPS4X_4_1183 pseudo 2305376 RPS4P13 ribosomal protein S4X pseudogene 13 19123937,19423540,20406964,20438785 390183 NG_010213,AP002893 RPS4P13|RPS4X_3_1145 pseudo 2304738 RPS4P14 ribosomal protein S4X pseudogene 14 19123937 729097 NG_010015,AC005343 RPS4P14|RPS4X_5_1190 pseudo 2305671 RPS4P15 ribosomal protein S4X pseudogene 15 19123937 100131055 NG_011238,AC090060 RPS4P15|RPS4X_7_1265 pseudo 2304514 RPS4P16 ribosomal protein S4X pseudogene 16 19123937,14702039 220433 NG_010070,AL354820 RPS4P16|RPS4X_8_1313 pseudo 2305870 RPS4P17 ribosomal protein S4X pseudogene 17 19123937 100128140 NG_010733,AC027455 RPS4P17|RPS4X_7_1505 pseudo 2305581 RPS4P18 ribosomal protein S4X pseudogene 18 19123937 646583 NG_010953,AC099849 RPS4P18|RPS4X_10_1587 pseudo 2304359 RPS4P19 ribosomal protein S4X pseudogene 19 19123937 645573 NG_011021,AP005899 RPS4P19|RPS4X_9_1583 pseudo 1346043 RPS4P2 ribosomal protein S4 pseudogene 2 19123937 92507 NG_000950,AL121916,AL133396 RPS4L2|RPS4P2|RPS4Y_2_1680|dJ189G13.2 pseudo 2304767 RPS4P20 ribosomal protein S4X pseudogene 20 19123937 100271386 NG_010128,AC016587 RPS4P20|RPS4X_9_1648 pseudo 2305234 RPS4P21 ribosomal protein S4X pseudogene 21 19123937 126235 NG_009255,AC016587,CR594080,CR597212,CR602023,CR603462,CR606605,CR609771,CR617295,CR618319,CR619631,CR620106,CR622909,CR625616,CR626797 RPS4P21|RPS4X_10_1649 pseudo 2305453 RPS4P22 ribosomal protein S4X pseudogene 22 19123937 100131614 NG_010161,AC008759 RPS4P22|RPS4X_8_1621 pseudo 2305848 RPS4P4 ribosomal protein S4X pseudogene 4 19123937 441878 NG_010104,AL391357 RPS4P4|RPS4X_1_17 pseudo 2305059 RPS4P5 ribosomal protein S4X pseudogene 5 19123937 100271132 NG_010143,AC016734 RPS4P5|RPS4X_1_232 pseudo 2305734 RPS4P6 ribosomal protein S4X pseudogene 6 19123937 391777 CR609307,NG_010506,AC008925 RPS4P6|RPS4X_2_555 pseudo 2305730 RPS4P7 ribosomal protein S4X pseudogene 7 19123937 442162 NG_010267,AL583828 RPS4P7|RPS4X_3_659 pseudo 2305685 RPS4P8 ribosomal protein S4X pseudogene 8 19123937 646269 NG_010649,AL591419 RPS4P8|RPS4X_5_772 pseudo 2305692 RPS4P9 ribosomal protein S4X pseudogene 9 19123937 442257 NG_010761,AL035603 RPS4P9|RPS4X_4_749 pseudo 1353859 RPS4X ribosomal protein S4, X-linked Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 9889097,17289661,17643375,8358435,1795030,15189156,12588972,8706699,2124517,8139551,15883184,15489334,14702039,14660691,12477932,11790298,11721045,11401437,9582194,9373149,8808278,8722009,8557258,8125298,8076819,2829364,16169070 6191 CR595707,CR597791,CR601794,CR620411,CR623958,M22146,M58458,Z70767,CR456735,NM_001007,NG_012524,AF041428,AL135749,CH471213,L24369,AK097914,AK222479,AK311745,BC000472,BC007308,BC071662,BC100903,BC100904,BU192706 CAG33016,AAA36597,AAA63255,CAA94808,P62701,Q53HV1,Q96IR1,ABM84522,ABM85850,NP_000998,AAB96968,EAW71815,EAW71816,EAW71817,AAN87119,BAG53549,BAD96199,BAG34688,AAH00472,AAH07308,AAH71662,AAI00904,AAI00905 Hs.118076 CCG2|DXS306|FLJ40595|RPS4|SCAR|SCR10 40S ribosomal protein S4, X isoform|cell cycle gene 2|ribosomal protein S4X isoform|single copy abundant mRNA protein|single-copy abundant mRNA protein-coding 1344298 RPS4Y1 ribosomal protein S4, Y-linked 1 Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 8358435,15189156,12588972,8139551,15489334,14660691,14583743,12815422,12477932,12206807,11401437,9582194,9373149,8808278,8722009,8706699,8125298,7633446,2124517 6192 NM_001008,AC006040,AF041427,L24370,AI167386,AK222594,AK292819,BC010286,BC100905,BC100906,BF242790,CR591112,M58459 NP_000999,AAB96967,AAN87120,BAD96314,BAF85508,AAH10286,AAI00906,AAI00907,AAA63256,P22090,Q496E4,Q53HI6,ABM82523,ABM85717 Hs.282376 MGC119100|MGC5070|RPS4Y 40S ribosomal protein S4, Y|40S ribosomal protein S4, Y isoform 1|OTTHUMP00000034364|ribosomal protein S4Y protein-coding 2305884 RPS4Y1P1 ribosomal protein S4Y pseudogene 1 19123937 441774 NG_009472,AC009078 RPS4Y_1_1499 pseudo 1353093 RPS4Y2 ribosomal protein S4, Y-linked 2 1580863 12815422,20459660 140032 NM_001039567,AC009494,AF497481 NP_001034656,AAM18074,Q8TD47 Hs.367761 RPS4Y2P 40S ribosomal protein S4, Y|40S ribosomal protein S4, Y isoform 2|ribosomal protein S4, Y-linked 2 pseudogene protein-coding 736632 RPS5 ribosomal protein S5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 1580863 18464793,15883184,15189156,12588972,8706699,17901157,15635413,15489334,12651107,12477932,11875025,11790298,11751223,9582194,9373149,8722009,8318536,8125298,7821789,7772601,18809582,19807034 6193 CR619033,CR625375,D28455,U14970,NM_001009,AB007149,AB061853,AC012313,CH471135,AK223106,AK311938,BC015405,BC018151,BC018828,BC035830,BG329390,BG687415,CR593754,CR605125,CR606098,CR614318 BAA05821,AAA85658,P46782,Q53G25,ABM82710,ABM85894,NP_001000,BAA25815,BAB79493,EAW72581,EAW72582,EAW72583,BAD96826,BAG34879,AAH15405,AAH18151 Hs.378103 40S ribosomal protein S5 protein-coding 1351508 RPS5P1 ribosomal protein S5 pseudogene 1 19123937 26516 NG_000896,AL050331 RPS5_1_743 pseudo 1348953 RPS5P2 ribosomal protein S5 pseudogene 2 19123937 100130240 NG_009782,AP000315 RPS5_4_1727 pseudo 1344037 RPS5P3 ribosomal protein S5 pseudogene 3 19123937,10830953 54022 NG_000903,AP000302,AP001717 RPS5L|RPS5_3_1726 pseudo 2305533 RPS5P4 ribosomal protein S5 pseudogene 4 19123937 100129090 NG_010354,AC104333 RPS5_1_162 pseudo 2304512 RPS5P5 ribosomal protein S5 pseudogene 5 19123937 340443 NG_011128,AC104212 RPS5_2_920 pseudo 2305555 RPS5P6 ribosomal protein S5 pseudogene 6 19123937 392282 NG_010474,AL353151 RPS5_2_957 pseudo 2305373 RPS5P7 ribosomal protein S5 pseudogene 7 19123937 392520 NG_010389,AC003013 RPS5_3_1801 pseudo 2305483 RPS5P8 ribosomal protein S5 pseudogene 8 19123937 392424 NG_011198,AC078991 RPS5_5_1762 pseudo 735279 RPS6 ribosomal protein S6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 8440735,8076819,3279029,2840355,1985906,1837589,1712897,1446836,710442,12586835,14702039,15590835,16169070,16286006,16428328,16810323,17220478,18348264,18423201,18642007,18697920,18809582,8590812,17565818,21067588,1301164,16314389,15883184,15189156,12588972,15809305,2334893,18565837,18362888,18157089,18039684,17726024,17081983,15489334,15477556,15121898,15051500,12820960,12477932,12045200,11790298,11438723,9582194,8722009,8706699,8500771,20617335 6194 AL391834,NM_001010,CH471071,M77232,X67309,AB062123,AK291517,AK311861,BC000524,BC009427,BC013296,BC027620,BC035447,BC071907,BC071908,BC094826,CR591028,CR591066,CR591444,CR591702,CR593216,CR596234,CR599051,CR599282,CR600766,CR600949,CR606554,CR606866,CR608904,CR611303,CR611834,CR612567,CR615680,CR622346,CR623758,CR624791,D28348,J03537,M20020,AK093634 CAM21142,CAM21143,CAM21144,NP_001001,EAW58635,EAW58636,EAW58637,EAW58638,EAW58639,EAW58640,EAW58641,EAW58642,EAW58643,AAA60289,CAA47719,BAB93455,BAF84206,BAG34802,AAH00524,AAH09427,AAH13296,AAH27620,AAH71907,AAH71908,AAH94826,BAA05714,AAA60287,AAA60288,P62753,Q96DV6,ABM82670,ABM85951 Hs.408073 40S ribosomal protein S6|OTTHUMP00000021121|OTTHUMP00000021122|phosphoprotein NP33 protein-coding 732451 RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 2315047,1580863 16282323,9770464,8141249,18029348,16626623,19470470,19332537,19150432,14709557,14702039,12917364,12917345,12897128,12842905,12832467,12618428,12594221,12569367,12477932,12393804,12235136,12213813,12093745,12080086,12036856,12019261,11914378,11861786,11551945,11507039,11500364,11432835,11297520,11260258,11175347,11171059,11139588,10980595,10949026,10880354,10837486,10753652,10723127,10673502,10648825,10635333,10521512,10480933,10469565,10318869,9915826,9829964,9721103,9687510,9528769,9430688,9381178,9373149,9353277,9218456,9214631,9030586,8939914,8756728,8688081,8663493,8630373,8601309,8413226,8248197,8125298,18722121,18450423,18084084,17965187,17634259,17192257,17081983,16738324,16710414,16341674,16223362,16213824,15905173,15861136,15647351,15615708,15489334,15342917,15206906,15121878,15117958,15112576,15073170,15024086,11160957,16217014,19675165,19716794,19808666,20048145,18950845,1545828,1545823,15910284,15757502,12626518,19913121,20628086,21035469,20304964,15276183 2315047 6195 NM_002953,NM_001006665,AL109743,AL627313,CH471059,AK092955,AK225672,AK292722,AK294818,AK299007,AK315730,BC014966,BC039069,BF982517,BM836865,L07597 NP_002944,NP_001006666,CAC36348,CAI14645,CAI14646,CAI14647,CAI14648,CAI14649,EAX07798,EAX07799,EAX07800,BAF85411,BAH11893,BAH12926,BAG38085,AAH14966,AAC82497,Q15418,ABM83168,ABM86369 Hs.149957 HU-1|MAPKAPK1A|RSK|RSK1 90 kDa ribosomal protein S6 kinase 1|MAP kinase-activated protein kinase 1a|MAPK-activated protein kinase 1a|MAPKAP kinase 1a|MAPKAPK-1a|OTTHUMP00000004114|RSK-1|S6K-alpha 1|S6K-alpha-1|dJ590P13.1 (ribosomal protein S6 kinase, 90kD, polypeptide 1)|p90-RSK 1|p90RSK1|p90S6K|ribosomal S6 kinase 1|ribosomal protein S6 kinase alpha 1|ribosomal protein S6 kinase alpha-1|s6 protein kinase (rsk-1) protein-coding 1348784 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 2315047,1580863 17192257,16895915,16878154,16621805,15995633,15489334,15345747,15112576,14702039,14646589,14574404,12897128,12477932,12393804,12016217,11698596,11495723,11175347,10949026,10880354,10837486,10521512,10501965,10480933,9915826,9829964,9687510,9381178,8939914,8688081,8663493,1602151,12832467,8756728,9770464,7623830,8141249,16626623,9155018,11160957,16217014,20379614,15276183,21035469 2315047 6196 NM_001006932,NM_021135,AL022069,AL023775,AL159163,AX019387,CH471051,Z98049,AA588877,AB073884,AB209116,AF140710,AK027727,AK095751,AK307470,AK310428,BC002363,BC011189,BF205134,BF339000,BI836819,BQ029058,BU160797,BU617697,L07598,X85106,AK295674 NP_001006933,NP_066958,CAI19650,CAI19651,CAC07738,EAW47522,EAW47523,EAW47524,CAI20579,BAD92353,BAG53121,AAH02363,AAC82496,CAA59427,Q15349,ABM82790,ABM85979,BAH12151 Hs.655277 HU-2|MAPKAPK1C|RSK|RSK3|S6K-alpha|S6K-alpha2|p90-RSK3|pp90RSK3 90 kDa ribosomal protein S6 kinase 2|MAP kinase-activated protein kinase 1c|MAPK-activated protein kinase 1c|MAPKAP kinase 1c|MAPKAPK-1c|OTTHUMP00000219225|OTTHUMP00000219227|OTTHUMP00000219228|RSK-3|S6K-alpha-2|p90-RSK 2|p90RSK2|ribosomal S6 kinase 3|ribosomal protein S6 kinase alpha 2|ribosomal protein S6 kinase alpha-2 protein-coding 1354498 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq] 2315047,1580863,1601643,1601644 9887375,19150432,19129453,18775331,18722121,18156174,17938253,17318637,17213202,17192257,17100996,17081983,16964243,16879200,16691578,16537434,16223362,15879597,15833840,15772651,15515167,15489334,15109498,14986828,14973203,14702039,14678837,12832467,12796492,12792428,12777533,9770464,8141249,10319851,10436156,8955270,18029348,16626623,19453261,19435896,20383198,20385620,12773393,12601080,12562765,12477932,12439904,12393804,12387894,12054624,11992250,11896450,11853558,11752456,11564891,11544290,11507039,11495723,11438671,11432835,11311121,11297520,11181841,11175347,11160957,11139588,10862698,10856237,10739259,10528858,10480933,10094187,9915826,9837815,9832145,9829964,9687510,9546672,9528769,9353289,8688081,7943043,7813820,7623830,7566098,7523419,1374067,8939914,11157753,15861136,15919995,16217014,17225856,19716794,20234090,15276183,20819778 2315047,1601643,1601644 6197 NM_004586,AB102380,AB102381,AB102382,AB102383,AB102384,AB102385,AB102386,AB102387,AB102388,AB102389,AB102390,AL732366,AL807772,AA317826,AA858312,AB102662,AB208933,AK022869,AK294373,AK296775,AK313932,AK316482,AV684171,BC015451,AB102379,BC096301,BC096302,BC096303,BQ427696,BU618685,CA843287,CA843526,CK905714,L07599,U08316,W00439,NG_007488,AB102311,AB102312,AB102313,AB102314,AB102315,AB102316,AB102317,AB102318,AB102319,AB102320,AB102321,AB102322,AB102323,AB102324,AB102325,AB102326,AB102327,AB102328,AB102329,AB102330,AB102371,AB102372,AB102373,AB102374,AB102375,AB102376,AB102377,AB102378 BAC80878,BAC80879,BAC80880,BAC80881,BAC80882,BAC80883,BAC80884,BAC80885,BAC80886,BAC80887,BAC80888,BAC80889,CAI40548,CAI39684,CAI39686,CAI39687,BAC81131,BAD92170,BAG57633,BAG59354,BAG36651,BAH14853,AAH96301,AAH96302,AAH96303,AAC82495,AAA81952,P51812,Q7Z2J3,Q7Z2J4,BAC80810,BAC80811,BAC80812,BAC80813,BAC80814,BAC80815,BAC80816,BAC80817,BAC80818,BAC80819,BAC80820,BAC80821,BAC80822,BAC80823,BAC80824,BAC80825,BAC80826,BAC80827,BAC80828,BAC80829,BAC80870,BAC80871,BAC80872,BAC80873,BAC80874,BAC80875,BAC80876,BAC80877,NP_004577 Hs.445387 CLS|HU-3|ISPK-1|MAPKAPK1B|MRX19|RSK|RSK2|S6K-alpha3|p90-RSK2|pp90RSK2 90 kDa ribosomal protein S6 kinase 3|MAP kinase-activated protein kinase 1b|MAPK-activated protein kinase 1b|MAPKAP kinase 1b|MAPKAPK-1b|RSK-2|S6K-alpha-3|insulin-stimulated protein kinase 1|mental retardation, X-linked 19|p90-RSK 3|p90RSK3|ribosomal S6 kinase 2|ribosomal protein S6 kinase alpha-3 protein-coding 1316377 RPS6KA4 ribosomal protein S6 kinase, 90kDa, polypeptide 4 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and c-fos. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 2315047,1580863 20864036,18029348,20805296,9792677,11035004,17495961,17192257,12773393,12477932,11909979,11438671,11175347,10806207,9921902,9829964,9687510,9373149,8688081,8125298,19933278 2315047 8986 HH961746,AK292163,AK298507,AK313567,BC020451,BC028079,BC047896,BI523588,NM_003942,NM_001006944,AP003774,CH471076,AF074715,AJ010119,AK223561 CBX51346,BAD97281,BAF84852,BAG60713,AAH28079,AAH47896,O75676,Q86VU2,NP_003933,NP_001006945,EAW74260,EAW74261,EAW74262,EAW74263,AAC67395,CAA09009 Hs.105584 MSK2|RSK-B 90 kDa ribosomal protein S6 kinase 4|RSKB|S6K-alpha-4|mitogen- and stress-activated protein kinase 2|nuclear mitogen- and stress-activated protein kinase 2|ribosomal protein S6 kinase alpha 4|ribosomal protein S6 kinase alpha-4|ribosomal protein kinase B protein-coding 1318046 RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5 2315047 20408143,19633291,19672773,19706715,19933278,20044958,20089855,20198339,20200978,20354165,20379614,20406806,12690113,12576423,12569367,12477932,12421349,11994045,11909979,11777913,11350938,11297520,11018520,10978317,10880354,10702687,10635333,10521505,10469656,9872331,9343414,11157753,11500364,15797222,12773393,12763138,9687510,12628924,9873047,19251839,19197368,19015318,18424438,17495961,17117922,16762916,16543895,16532028,16479592,16223362,15568999,15489334,15302935,15133024,15010469,14963018,14578350,14551213,12807421,20936779,20864036,15276183,20805296 2315047 9252 NM_182398,AL121784,AL133454,AL159191,CH471061,AF074393,AF080000,AF090421,AK295266,AK309925,AL050099,BC017187,BF593074,BG699153,NM_004755 NP_004746,NP_872198,EAW81439,EAW81440,AAC31171,AAD23915,AAC69577,BAH12021,CAB43270,AAH17187,Q9UG98,O75582 Hs.510225 MGC1911|MSK1|MSPK1|RLPK 90 kDa ribosomal protein S6 kinase 5|RSK-like protein kinase|RSKL|S6K-alpha-5|nuclear mitogen- and stress-activated protein kinase 1|ribosomal protein S6 kinase alpha-5 protein-coding 1350176 RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 2315047,1580863 10644430,18628456,18029348,17314274,16865262,15772651,15632195,12477932,16169070,14702039,11160957,12832467,19584160,19679225 2315047 27330 NM_014496,AC003001,AL022160,AL035552,AL121867,AL354653,AL389887,AL590228,AL593849,AL603626,CH471104,CS172421,AF184965,AK310346,AK313240,BC143647,BC143648,CR536566,AK023104,AK026301,BQ448025,NG_016340 NP_055311,CAD13486,CAC16111,EAW98575,CAJ32899,AAF13190,BAG36051,AAI43649,CAG38803,Q9UK32,AAI46381,AAI48803 Hs.234478 PP90RSK4|RSK4 90 kDa ribosomal protein S6 kinase 6|RSK-4|S6K-alpha 6|S6K-alpha-6|p90-RSK 6|p90RSK6|ribosomal S6 kinase 4|ribosomal protein S6 kinase alpha-6 protein-coding 731644 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates several residues of the S6 ribosomal protein. The kinase activity of this protein leads to an increase in protein synthesis and cell proliferation. Amplification of the region of DNA encoding this gene and overexpression of this kinase are seen in some breast cancer cell lines. Alternate translational start sites have been described and alternate transcriptional splice variants have been observed but have not been thoroughly characterized. [provided by RefSeq] 1642984,1643028,1642977,1642978,1642998,2308795,1625616,1580863 19815051,10971657,10567431,9465032,15149849,20731018,20410302,21067588,1922062,15314020,15809305,19285034,19266162,19240722,19112174,19085255,19065636,18952604,18829578,18813808,18660489,18652687,18565837,18461003,18423201,18025271,17936702,17908691,17622239,17616691,17604271,17599906,17569770,17427199,17255101,17081983,17053147,17052453,17045920,16964243,16962100,16914728,16883576,16839745,16826166,16818690,16715128,16469801,16434552,16407298,16286006,16262259,16049009,15953364,15899889,15843522,15812314,15790787,15723049,15696579,15692808,15659381,15623621,15589845,15533996,15474452,15342556,15341740,15319361,15304500,15236312,15203190,15158097,15071500,15028555,15024086,14709557,14702039,12869548,12801526,12759354,12747804,12733712,12586835,12477932,12054624,12052877,12023960,12019261,11914378,11853558,11516946,11500364,11438723,11297520,11171059,11013237,10973943,10601311,10197603,9804755,9653190,9445476,9427642,17336708,9271440,8871403,10807185,10089566,16895915,16837165,12604610,12150926,16640565,16931574,16899564,10200280,11733037,15249583,16922504,16183647,15905173,15896331,15854902,14679009,12150925,19913121,20599538,20599721,20628086,20657550,11279232,14673156,16109716,16364302,16763566,16810323,18279656,19168580,19730801,19801633,19864428,19881535,19889638,19914247,19995915,20137651,20157535,20173664,20187284,20190034,20459645,20423989,20617335,20819778,21035469,21048031 1642984,1643028,1642977,1642978,1642998,2308795,1625616 6198 CB050838,CR604237,M60724,M60725,AC004686,CH471109,AA424792,AI806441,AK026730,AK091503,AK293247,AK297147,AK300202,AK312875,BC030763,BC036033,BC053365,BG614269,BP359158,BQ719717,CA444907,NM_003161,CS498704 AAA36410,AAA36411,P23443,Q4G0X7,Q7Z721,NP_003152,EAW94382,EAW94383,EAW94384,BAG56781,BAG59646,BAG61973,BAG35726,AAH36033,AAH53365,CAM82744 Hs.463642 PS6K|S6K|S6K1|STK14A|p70(S6K)-alpha|p70-S6K|p70-alpha 70 kDa ribosomal protein S6 kinase 1|P70S6K1|S6K-beta-1|p70 S6 kinase alpha|p70 S6 kinase, alpha 1|p70 S6 kinase, alpha 2|p70 S6K-alpha|p70 S6KA|p70 ribosomal S6 kinase alpha|p70-S6K 1|ribosomal protein S6 kinase I|ribosomal protein S6 kinase beta-1|s6 kinase|serine/threonine kinase 14 alpha|serine/threonine-protein kinase 14A protein-coding 1313003 RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates the S6 ribosomal protein and eucaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq] 2308795,1625616,1580863 9878560,9804755,10490848,17786541,17081983,15489334,15071500,15051500,14729629,12875979,12818373,12713446,12569102,12529391,12477932,12176053,12087098,11753643,11733037,11108720,11108711,10490847,16640565,11500364,15589845,16763566,16810323,20308064,20098747,20819778,21035469 2308795,1625616 6199 NM_003952,AP003419,CH471076,AB016869,AB019245,AB208827,AF076931,AF099739,AK297527,BC000094,BC006106,BC136564,BX337895,BX538119,CR593441,CR593942,CR597985,CR599694,CR602192,CR604258,CR604667,CR605830,CR611291,CR612509,CR613481,CR616474,CR618047,CR622329,CR622954 NP_003943,EAW74618,EAW74619,EAW74620,EAW74621,BAA34402,BAA37145,BAD92064,AAD46063,AAD20990,BAG59930,AAH00094,AAH06106,AAI36565,Q59HD2,Q9BRS0,Q9UBS0 Hs.534345 KLS|P70-beta|P70-beta-1|P70-beta-2|S6K-beta2|S6K2|SRK|STK14B|p70(S6K)-beta|p70S6Kb 70 kDa ribosomal protein S6 kinase 2|P70S6K2|S6 kinase-related kinase|S6K-beta|S6K-beta-2|p70 S6 kinase beta|p70 S6K-beta|p70 S6KB|p70 ribosomal S6 kinase beta|p70-S6K 2|ribosomal protein S6 kinase beta-2|serine/threonine-protein kinase 14 beta|serine/threonine-protein kinase 14B protein-coding 1348524 RPS6KB3 ribosomal protein S6 kinase, 70kDa, polypeptide 3 6200 1315275 RPS6KC1 ribosomal protein S6 kinase, 52kDa, polypeptide 1 10552933,17081983,16710414,16344560,15489334,14702039,15750338,14667819,12477932,12077123 26750 NM_012424,NM_001136138,AL512449,AL583826,AL645860,CH471100,AB070706,AF037447,AF477978,AK122921,AK122989,AK295053,AK299298,AL356893,BC104769,BC143449,BC143473,BC143474,BX647303,DB060692 NP_036556,NP_001129610,CAH71999,CAH72000,CAH73804,CAH73805,CAH70703,CAH70704,EAW93362,EAW93363,EAW93364,BAB63956,AAF13027,AAL84818,BAG53836,BAG58102,BAG61312,CAB92850,AAI04770,Q96S38 Hs.591416 RPK118|humS6PKh1 52 kDa ribosomal protein S6 kinase|S6K-delta-1|SPHK1-binding protein|ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein|ribosomal protein S6 kinase delta-1 protein-coding 1319861 RPS6KL1 ribosomal protein S6 kinase-like 1 1580863 15489334,12508121,12477932,14702039 83694 AC006530,CH471061,AK054800,AK093053,AK131532,AK226137,AK299846,AL390152,BC004540,BC036574,NM_031464 ABW03554,NP_113652,AAD30182,EAW81203,EAW81204,EAW81205,EAW81206,BAB70808,BAG61708,CAH10661,AAH04540,Q9Y6S9,ABM83938 Hs.414481 FLJ35734|MGC11287 ribosomal protein S6 kinase-like 1 protein-coding 1602393 RPS6P1 ribosomal protein S6 pseudogene 1 19123937,12477932 440086 NG_009657,AC007688 RPS6_9_1210 pseudo 2305415 RPS6P10 ribosomal protein S6 pseudogene 10 19123937 100270865 NG_010065,AL161909 RPS6_4_967 pseudo 2305414 RPS6P11 ribosomal protein S6 pseudogene 11 19123937 100270866 NG_010074,AL136231 RPS6_5_956 pseudo 2305413 RPS6P12 ribosomal protein S6 pseudogene 12 19123937 100270867 NG_010080,AL133391 RPS6_5_991 pseudo 2305523 RPS6P13 ribosomal protein S6 pseudogene 13 19123937 392358 NG_010868,AL353678 RPS6_6_992 pseudo 2305561 RPS6P14 ribosomal protein S6 pseudogene 14 19123937 100131396 NG_010363,AC074325 RPS6_6_1039 pseudo 2304851 RPS6P15 ribosomal protein S6 pseudogene 15 19123937 100129732 NG_011016,AL607043 RPS6_7_1097 pseudo 2305569 RPS6P16 ribosomal protein S6 pseudogene 16 19123937 100128923 NG_010818,AP002884 RPS6_8_1176 pseudo 2305825 RPS6P17 ribosomal protein S6 pseudogene 17 19123937 120318 NG_011320,AP000942 RPS6_7_1168 pseudo 2305057 RPS6P18 ribosomal protein S6 pseudogene 18 19123937 100271135 NG_010164,AC007618 RPS6_8_1191 pseudo 2305056 RPS6P19 ribosomal protein S6 pseudogene 19 19123937 100271136 NG_010169,AC079953 RPS6_9_1270 pseudo 2305416 RPS6P2 ribosomal protein S6 pseudogene 2 19123937 100270864 NG_010058,AC092640 RPS6_1_301 pseudo 2304905 RPS6P20 ribosomal protein S6 pseudogene 20 19123937 100271262 NG_010830,AC092850 RPS6_10_1296 pseudo 2304904 RPS6P21 ribosomal protein S6 pseudogene 21 19123937 100271263 NG_010836,AC117500 RPS6_11_1297 pseudo 2305459 RPS6P22 ribosomal protein S6 pseudogene 22 19123937 100129227 NG_011052,AC068305 RPS6_10_1242 pseudo 2305786 RPS6P24 ribosomal protein S6 pseudogene 24 19123937 100128358 NG_010528,AL133372 RPS6_12_1345 pseudo 2304406 RPS6P25 ribosomal protein S6 pseudogene 25 19123937 729389 NG_010244,AD000092 RPS6_13_1629 pseudo 2305479 RPS6P26 ribosomal protein S6 pseudogene 26 19123937 392497 NG_010262,AC004386 RPS6_11_1786 pseudo 2305625 RPS6P3 ribosomal protein S6 pseudogene 3 19123937 644013 NG_010900,AC092570 RPS6_1_251 pseudo 2305492 RPS6P4 ribosomal protein S6 pseudogene 4 19123937 100131548 NG_011139,AC128685 RPS6_2_432 pseudo 2304349 RPS6P5 ribosomal protein S6 pseudogene 5 19123937 100130347 NG_010236,AC104689 RPS6_2_487 pseudo 2305869 RPS6P7 ribosomal protein S6 pseudogene 7 19123937 100128162 NG_010850,AL390316 RPS6_3_716 pseudo 2305751 RPS6P8 ribosomal protein S6 pseudogene 8 19123937 100128450 NG_011004,AC019205 RPS6_3_713 pseudo 2305531 RPS6P9 ribosomal protein S6 pseudogene 9 19123937 100131467 NG_010727,AC090686 RPS6_4_936 pseudo 1348295 RPS7 ribosomal protein S7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 8522193,11823430,18697920,15189156,12588972,8706699,15883184,19061985,17310983,16582619,15489334,14702039,12477932,10625621,9687515,9582194,8722009,8318536,18809582 6201 CR620103,CR624620,M77233,X74803,NG_011744,NM_001011,AC108488,CH471053,Z25749,AB209386,AF085824,AK092027,AK311794,BC002866,BC061901,BC071919,BG615667,CR598181,CR600310,CR604018,CR611842 AAB00969,P62081,Q57Z92,ABM83911,ABM87233,NP_001002,AAX82027,EAX01056,EAX01057,EAX01058,EAX01059,CAA81022,BAD92623,BAG34737,AAH02866,AAH61901,AAH71919 Hs.534346,Hs.546287,Hs.646582 DBA8 40S ribosomal protein S7 protein-coding 1344088 RPS7P1 ribosomal protein S7 pseudogene 1 19123937 388363 NG_005669,AC015917 RPS7_4_1531 pseudo 2305514 RPS7P11 ribosomal protein S7 pseudogene 11 19123937 644315 AC217780,NG_011130,AC004098 RPS7_6_1552 pseudo 2305314 RPS7P12 ribosomal protein S7 pseudogene 12 19123937 100270914 NG_010350,AL672032 RPS7_6_1816 pseudo 2305897 RPS7P13 ribosomal protein S7 pseudogene 13 19123937 100130435 NG_010681,AL365400 RPS7_7_1794 pseudo 2305726 RPS7P14 ribosomal protein S7 pseudogene 14 19123937 646108 NG_011138,AC004073 RPS7_5_1787 pseudo 2305412 RPS7P2 ribosomal protein S7 pseudogene 2 19123937 100270868 NG_010085,AL358472 RPS7_1_102 pseudo 2305118 RPS7P3 ribosomal protein S7 pseudogene 3 19123937 440732 NG_009603,AL133380,AL359819,NG_027049 RPS7_2_175 pseudo 2305770 RPS7P4 ribosomal protein S7 pseudogene 4 20200978,19123937 149224 NG_011195,AL513284 RPS7_1_61 pseudo 2305840 RPS7P5 ribosomal protein S7 pseudogene 5 19123937 645884 NR_036695,AL356361,AK098605 Hs.677723 RPS7_2_183 pseudo 2305411 RPS7P6 ribosomal protein S7 pseudogene 6 19123937 100270869 NG_010094,AC093600 RPS7_3_462 pseudo 2305410 RPS7P7 ribosomal protein S7 pseudogene 7 19123937 100270870 NG_010101,AC084010 RPS7_3_472 pseudo 2305694 RPS7P8 ribosomal protein S7 pseudogene 8 19123937 442237 NG_010648,AL355143 RPS7_4_725 pseudo 2305645 RPS7P9 ribosomal protein S7 pseudogene 9 19123937 100128756 NG_011267,AL732389 RPS7_5_1072 pseudo 731589 RPS8 ribosomal protein S8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq] 18029348,17220478,15189156,12588972,8706699,15883184,8432552,15635413,15489334,12477932,11790298,9582194,8764399,8722009,1712897,15616584,17207965,17289661 6202 NM_001012,AL592166,CH471059,X67247,Z58668,Z61049,AB062401,AF116700,AK311854,BC005678,BC022070,BC070875,CR605896,CR612286,CR614840,CR623636 NP_001003,CAI13002,CAI13003,EAX07023,EAX07024,CAA47670,BAB93488,AAF71120,BAG34795,AAH05678,AAH70875,P62241,Q5JR94,Q5JR95,Q9BS10,Q9P1D6,ADQ31996 Hs.512675 40S ribosomal protein S8|OK/SW-cl.83 protein-coding 1345119 RPS8P1 ribosomal protein S8 pseudogene 1 19123937,9841928 192133 NG_001019,AB019441 RPS8_5_1417 pseudo 2304990 RPS8P10 ribosomal protein S8 pseudogene 10 19123937 388076 NG_011225,AC010760,CH878371 EAW50487 RPS8_6_1418 pseudo 1351567 RPS8P3 ribosomal protein S8 pseudogene 3 19123937 100132995 NG_010683,AC022701 HsT2707|RPS8_7_1602 pseudo 1348940 RPS8P4 ribosomal protein S8 pseudogene 4 19123937 646119 NG_009795,AC012468,CH471066 EAW49384 RPS8_2_1103 pseudo 2305670 RPS8P5 ribosomal protein S8 pseudogene 5 19123937 100131083 NG_010028,AC092418 RPS8_2_374 pseudo 2305409 RPS8P6 ribosomal protein S8 pseudogene 6 19123937 100270871 NG_010107,AC026187 RPS8_1_339 pseudo 2305758 RPS8P7 ribosomal protein S8 pseudogene 7 19123937 646093 NG_011062,AC104115 RPS8_3_645 pseudo 2305349 RPS8P8 ribosomal protein S8 pseudogene 8 19123937 728553 NG_011203,AC010343,AC022443,CR604851,CR609052,CR609516,CR616485,CR625813 Hs.570979 RPS8_1_552 pseudo 2305782 RPS8P9 ribosomal protein S8 pseudogene 9 19123937 100130750 NG_010982,AL353662 RPS8_4_974 pseudo 734165 RPS9 ribosomal protein S9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq] 1580863 17289661,17643375,19834535,17220478,15635413,15489334,14702039,12565890,12477932,11875025,11790298,11751223,11044901,9582194,8722009,8318536,17353931,18420587,15189156,12588972,8706699,15883184,7772601,20221446 6203 CR602785,CR605701,CR606612,CR608771,CR613055,CR616829,CR617140,CR621838,CR624355,CR624556,U14971,NM_001013,AB007150,AB061839,AC012314,CH471135,CU151838,CU457734,AB055775,AK095055,BC000802,BC007410,BC007434,BC007857,BC020462,BC050660,BC058892,BC068055,BC071940,BC071941,BC096756,BC096822,BC141920,CR593663,CR600860 AAA85659,P46781,ABM82126,ABM85309,NP_001004,BAA25816,BAB79477,EAW72209,EAW72210,EAW72211,EAW72212,EAW72213,EAW72214,EAW72215,CAQ09597,CAP19125,BAB62869,AAH00802,AAH07410,AAH07434,AAH07857,AAH68055,AAH71940,AAH96756,AAI41921 Hs.467284,Hs.546288 40S ribosomal protein S9|OTTHUMP00000069585|OTTHUMP00000197717|OTTHUMP00000197718|OTTHUMP00000197719|OTTHUMP00000206570 protein-coding 1349919 RPS9P1 ribosomal protein S9 pseudogene 1 19123937,10830953,9740676 8410 NG_003259,AP000689,AP001725 RPS9P|RPS9_2_1730 pseudo 1352180 RPS9P2 ribosomal protein S9 pseudogene 2 19123937 267009 NG_002404,AL080243 RPS9_3_1753|bA12M9.1 pseudo 2305827 RPS9P3 ribosomal protein S9 pseudogene 3 19123937 100133054 NG_010983,AC022121 RPS9_1_598 pseudo 2304419 RPS9P4 ribosomal protein S9 pseudogene 4 19123937,19165232 388556 NG_009020,AC011495 RPS9_1_1662 pseudo 1344885 RPSA ribosomal protein SA Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 10079194,2970671,15189156,16130169,12588972,21040730,20101459,11752855,11720479,11067943,11054877,10683318,10477615,9732225,9582194,9218732,8985115,8760291,8586453,2970639,2543954,2429301,1534510,18276110,16169070,8706699,19224861,19182490,19123465,18794547,18787295,18425431,18269348,18079119,17535553,16973587,16889749,16759641,16431845,16236267,16189514,15922307,15635413,15592455,15516338,15489334,15246873,15158907,14730304,14702039,14614142,12875970,12477932,12440778,12386810,11790298,20515747,18061925,19446013,19691449,19961413,20491781,19561400,16263087 3921 NM_001012321,AB007146,AC099332,CH471055,U36484,U43901,AF503367,AJ572067,AK055991,BC005391,BC008867,BC010054,BC010418,BC013827,BC018867,BC034537,BC050688,BC053370,BC062714,BC066941,BC068062,BC070263,BC071693,NM_002295,BC071968,BC071969,BC071970,BC073863,BC107567,BT007219,BU932677,CR590550,CR593226,CR593481,CR594860,CR595716,CR596726,CR599598,CR599703,CR600444,CR601130,CR604608,CR605409,CR608117,CR608169,CR608513,CR609304,CR609795,CR610460,CR611471,CR611940,CR612030,CR612802,CR614112,CR614218,CR614557,CR614827,CR615235,CR616655,CR618689,CR618995,CR620609,CR623213,CR623621,CR624266,CR624384,CR625028,CR625327,CR626298,CR626563,J03799,M14199,S37431,X15005,X61156,CR622070 NP_002286,NP_001012321,BAA25812,EAW64582,EAW64583,EAW64584,EAW64585,EAW64586,EAW64587,AAC50313,AAC50652,AAM33304,AAH05391,AAH08867,AAH10418,AAH13827,AAH34537,AAH50688,AAH53370,AAH62714,AAH66941,AAH68062,AAH70263,AAH71968,AAH71969,AAH71970,AAH73863,AAI07568,AAP35883,AAH71693,AAA36161,AAA36165,AAB22299,CAA33112,CAA43469,P08865,Q9P1B9,ABM82072,ABM85252 Hs.449909 37LRP|67LR|LAMBR|LAMR1|LBP|LRP|p40 37 kDa laminin receptor|37/67 kDa laminin receptor|40S ribosomal protein SA|67 kDa laminin receptor|67kD, ribosomal protein SA|LBP/p40|LRP/LR|NEM/1CHD4|OTTHUMP00000209609|OTTHUMP00000209610|colon carcinoma laminin-binding protein|lamR|laminin binding protein|laminin receptor 1 (67kD, ribosomal protein SA)|laminin-binding protein precursor p40|multidrug resistance-associated protein MGr1-Ag protein-coding 1346846 RPSAP1 ribosomal protein SA pseudogene 1 19123937 170529 NG_001045,AL121915 LAMR1P|LAMR1P1|RPSA_24_1712|dJ1193N1.1 laminin receptor 1 pseudogene 1 pseudo 1601682 RPSAP10 ribosomal protein SA pseudogene 10 19123937 401638 NG_009741,AC022021 LAMR1P10|RPSA_22_1026 pseudo 1349064 RPSAP11 ribosomal protein SA pseudogene 11 19123937,18063583,1649122 645326 NG_006441,AC097639 LAMR|LAMR1P11|LAMRL1|LAMRP1|RPSA_9_357 pseudo 1350131 RPSAP12 ribosomal protein SA pseudogene 12 19123937,1649122 387867 NG_010141,AC015550 LAMR1P12|LAMRL2|LAMRP2|RPSA_18_1254 pseudo 1347545 RPSAP13 ribosomal protein SA pseudogene 13 19123937,1649122 3923 NG_010441,AL160471 LAMR1P13|LAMRL3|LAMRP3|RPSA_20_1366 pseudo 1344977 RPSAP14 ribosomal protein SA pseudogene 14 8401491,1649122 3924 NG_004075,AL139400,L15458 LAMR1P14|LAMRL4|LAMRP4 laminin receptor 1 pseudogene 14 pseudo 1354419 RPSAP15 ribosomal protein SA pseudogene 15 1580863 19123937,9461426,11499681 220885 NG_011100,Z83818,AF284768 AAK69721,Q96RS2 Hs.496451 LAMR1P15|LAMRL5|RPSA_25_1791 pseudo 2305408 RPSAP16 ribosomal protein SA pseudogene 16 19123937 100270872 NG_010115,AL353708 RPSA_1_135 pseudo 2305407 RPSAP17 ribosomal protein SA pseudogene 17 19123937 100270873 NG_010120,AL162591 RPSA_3_103 pseudo 2304374 RPSAP18 ribosomal protein SA pseudogene 18 19123937 388707 AL139011,AL513282,NG_010515 RPSA_4_107 pseudo 2305756 RPSAP19 ribosomal protein SA pseudogene 19 19123937 730029 NG_007325,AL359760,CH471121,BX648992,AC104334 EAW53202 Hs.567943 DKFZp686O1684|RPSA_2_81 pseudo 1348591 RPSAP2 ribosomal protein SA pseudogene 2 19123937 442181 NG_009790,AL390196,AL671879,AL662890 LAMR1P2|RPSA_15_672|bA60E24.1 pseudo 2305859 RPSAP20 ribosomal protein SA pseudogene 20 19123937 127406 NG_010906,AL353681 RPSA_1_53 pseudo 2304739 RPSAP21 ribosomal protein SA pseudogene 21 19123937 729079 NG_009605,AL359185 RPSA_2_180 pseudo 2305406 RPSAP22 ribosomal protein SA pseudogene 22 19123937 100270874 NG_010126,AC016753 RPSA_5_248 pseudo 2305405 RPSAP23 ribosomal protein SA pseudogene 23 19123937 100270875 NG_010135,AC017040 RPSA_5_268 pseudo 2305852 RPSAP24 ribosomal protein SA pseudogene 24 19123937 391462 NG_010206,AC016737 RPSA_6_295 pseudo 2305858 RPSAP25 ribosomal protein SA pseudogene 25 19123937 129841 NG_010261,AC016739 RPSA_7_299 pseudo 2304494 RPSAP26 ribosomal protein SA pseudogene 26 19123937 729209 NG_010627,AC018462 RPSA_3_227 pseudo 2305636 RPSAP27 ribosomal protein SA pseudogene 27 19123937 130429 NG_010650,AC016697 RPSA_8_320 pseudo 2305889 RPSAP28 ribosomal protein SA pseudogene 28 19123937 391387 NG_011134,AC074008 RPSA_4_242 pseudo 2305820 RPSAP29 ribosomal protein SA pseudogene 29 19123937 389141 NG_010100,AC119737 RPSA_6_392 pseudo 1352096 RPSAP3 ribosomal protein SA pseudogene 3 19123937 158674 NG_002489,AC008050 LAMR1P3|RPSA_21_1392 laminin receptor 1 pseudogene 3 pseudo 2305575 RPSAP30 ribosomal protein SA pseudogene 30 19123937 728126 NG_010326,AC011322,AC068302 RPSA_7_452 pseudo 2305813 RPSAP31 ribosomal protein SA pseudogene 31 19123937 391598 NG_010907,AC068644 RPSA_11_442 pseudo 2305111 RPSAP33 ribosomal protein SA pseudogene 33 19123937 647158 NG_011277,AC112911 RPSA_10_433 pseudo 2305404 RPSAP34 ribosomal protein SA pseudogene 34 19123937 100270876 NG_010142,AC005510 RPSA_8_506 pseudo 2305312 RPSAP35 ribosomal protein SA pseudogene 35 19123937 100270916 NG_010360,AC113617 RPSA_13_513 pseudo 2305605 RPSAP36 ribosomal protein SA pseudogene 36 19123937 100128888 NG_010623,AC104685 RPSA_14_525 pseudo 2305313 RPSAP37 ribosomal protein SA pseudogene 37 19123937 100270915 NG_010356,AC026723 RPSA_10_610 pseudo 2305829 RPSAP38 ribosomal protein SA pseudogene 38 19123937 100130676 NG_010603,AC010408 RPSA_9_557 pseudo 2305641 RPSAP39 ribosomal protein SA pseudogene 39 19123937 100131161 NG_010466,AC097711 RPSA_12_495 pseudo 1344780 RPSAP4 ribosomal protein SA pseudogene 4 19123937,15014966 145259 NG_002486,AL049839 LAMR1P4|RPSA_27_1403 laminin receptor 1 pseudogene 4 pseudo 2305311 RPSAP40 ribosomal protein SA pseudogene 40 19123937 100270917 NG_010364,AL807246 RPSA_13_766 pseudo 2305310 RPSAP41 ribosomal protein SA pseudogene 41 19123937 100270918 NG_010368,AC019205 RPSA_17_711 pseudo 2305309 RPSAP42 ribosomal protein SA pseudogene 42 19123937 100270919 NG_010380,AL591397 RPSA_18_761 pseudo 2305658 RPSAP43 ribosomal protein SA pseudogene 43 19123937 643954 NG_010589,AL355498 RPSA_12_742 pseudo 2304496 RPSAP44 ribosomal protein SA pseudogene 44 19123937 652411 NG_010638,AL136306 RPSA_16_706 pseudo 2305348 RPSAP45 ribosomal protein SA pseudogene 45 19123937 728562 NG_011251,AL365214 RPSA_11_739 pseudo 2304389 RPSAP46 ribosomal protein SA pseudogene 46 19123937 652624 NG_010431,AC004876 RPSA_14_827 pseudo 2305630 RPSAP47 ribosomal protein SA pseudogene 47 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPSA gene, there is no convincing evidence of transcription. It is thus being annotated as a pseudogene.[provided by RefSeq] 19123937,11181995 389672 NG_010220,AC009812,AC009871,CH471068 EAW87080,EAW87081 RPSA_19_921 pseudo 2305557 RPSAP48 ribosomal protein SA pseudogene 48 19123937 392262 NG_010379,AC018608 RPSA_15_943 pseudo 2305664 RPSAP49 ribosomal protein SA pseudogene 49 19123937 401537 NG_010669,AL158076 RPSA_21_995 pseudo 1348252 RPSAP5 ribosomal protein SA pseudogene 5 19123937 319129 NG_002507,AL133367 LAMR1P5|RPSA_22_1412 laminin receptor 1 pseudogene 5 pseudo 2305592 RPSAP50 ribosomal protein SA pseudogene 50 19123937 644109 NG_010040,AP001981 RPSA_24_1172 pseudo 2304903 RPSAP51 ribosomal protein SA pseudogene 51 19123937 100271267 NG_010852,AC092490 RPSA_25_1205 pseudo 2305922 RPSAP52 ribosomal protein SA pseudogene 52 19123937,12477932,2543954,20932310,20581827 204010 NR_026825,AC107308,AC135891,BC058822,BC107865 Hs.558686 MGC104447|RPSA_17_1251 pseudo 2304869 RPSAP53 ribosomal protein SA pseudogene 53 19123937 400141 NG_010038,AL603863 RPSA_19_1317 pseudo 2304745 RPSAP54 ribosomal protein SA pseudogene 54 19123937 642641 NG_011364,AL356285 RPSA_26_1300 pseudo 2304873 RPSAP55 ribosomal protein SA pseudogene 55 19123937 388122 NG_010133,AC016044 RPSA_28_1433 pseudo 2305911 RPSAP56 ribosomal protein SA pseudogene 56 19123937 645656 NG_011353,AC092128 RPSA_23_1496 pseudo 2304505 RPSAP57 ribosomal protein SA pseudogene 57 19123937 390857 NG_011042,AC007673,AC100776 RPSA_29_1604 pseudo 1601794 RPSAP58 ribosomal protein SA pseudogene 58 19123937,12477932 388524 NR_003662,AC139769,CH471106,BC071971 EAW84950,EAW84951,EAW84952 Hs.560655 RPSA_30_1642 ribosomal protein SA pseudogene|similar to laminin receptor 1 pseudo 2305044 RPSAP59 ribosomal protein SA pseudogene 59 19123937 100271148 NG_010239,AL035494 RPSA_27_1799 pseudo 1349946 RPSAP6 ribosomal protein SA pseudogene 6 19123937 414254 NG_009794,AC022026 LAMR1P6|RPSA_23_1065 pseudo 2305043 RPSAP60 ribosomal protein SA pseudogene 60 19123937 100271149 NG_010242,AF274856 RPSA_28_1820 pseudo 2305474 RPSAP61 ribosomal protein SA pseudogene 61 19123937 644464 NG_010579,AL031311 RPSA_31_1776 pseudo 2305530 RPSAP62 ribosomal protein SA pseudogene 62 19123937 100131469 NG_010739,AL161779 RPSA_32_1778 pseudo 2305488 RPSAP63 ribosomal protein SA pseudogene 63 19123937 100270755 NG_009640,AL009174 RPSA_33_1813 pseudo 2291765 RPSAP7 ribosomal protein SA pseudogene 7 19123937 654506 NG_007324,AC069544 LAMR1P7|RPSA_16_1024 pseudo 2292092 RPSAP8 ribosomal protein SA pseudogene 8 19123937 643617 NG_007295,AL359641 LAMR1P8|RPSA_26_1797 pseudo 1347679 RPSAP9 ribosomal protein SA pseudogene 9 19123937,16344560 653162 NR_026890,AL391868,DB348177 Hs.655646 LAMR1P9|RPSA_20_986 pseudo 1605586 RPTN repetin 15854042,14702039,12477932,19615732 126638 AY396742,BC112216,BC112218,NM_001122965,AL589986,AY219924,CH471121,AK096436 BAC04789,AAR91620,AAI12217,AAI12219,Q2M1U5,Q2M1U7,Q6XPR3,Q8N1M7,NP_001116437,AAP48705,EAW53388,CAX15197 Hs.376144 FLJ39117 intermediate filament-associated protein|repetin protein-coding 1603019 RPTOR regulatory associated protein of MTOR, complex 1 2308795,2307383,1625616 16919458,16847060,16798736,16603397,15467718,15459249,15268862,12747827,12719976,12665511,16824195,15767663,12912989,15718470,20427287,20562859,20439490,12408816,17386266,19145465,19211835,19561084,19724909,19864431,19921495,20354165,20379614,15755954,15809305,19388141,19139211,18722121,18497260,18439900,17656678,17329400,17081983,16964243,16959881,16914728,16354680,16183647,15489334,15302935,15066126,14702039,12718876,12604610,12477932,12150926,12150925,10718198,16631613,16962653,16286006,16837165,15854902,17043309,18776922,20169205 2308795,2307383,1625616 57521 NG_013034,NM_020761,NM_001163034,AC016245,AC109327,AC127496,AC133012,CH471099,AB037724,AB082951,AI821182,AK055912,AK295964,AK296321,AY090663,BC014502,BC025180,BC033258,BC033699,BC041079,BC064515,BC073898,BC136652,BC136654,BF111734,GQ183898 NP_065812,NP_001156506,EAW89618,EAW89619,BAA92541,BAC06490,BAG58742,BAH12314,AAM09075,AAH25180,AAH33258,AAH64515,AAH73898,AAI36653,AAI36655,ACS44766,Q6DKI0,Q8N122 Hs.133044 KIAA1303|KOG1|Mip1 p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats|raptor|regulatory-associated protein of mTOR protein-coding 1344939 RPUSD1 RNA pseudouridylate synthase domain containing 1 12477932,11157797,16341674 113000 NM_058192,AE006465,AL031033,CH471112,BC011783,BC012951,BC036279,BG686882,BM763460,CB529100,CR593558,CR595179,CR599759,CR604984,CR605414,CR610455,CR610459,CR611036,CR612793,CR623234,CR625931 NP_478072,AAK61255,CAB53055,EAW85712,EAW85713,EAW85714,EAW85715,AAH11783,AAH12951,Q96E34,Q9UJJ7,ABM83844,ABM87166 Hs.101742 C16orf40|MGC19600|RLUCL RNA pseudouridylate synthase domain-containing protein 1|ribosomal large subunit pseudouridine synthase C like|ribosomal large subunit pseudouridine synthase C-like protein protein-coding 1343031 RPUSD2 RNA pseudouridylate synthase domain containing 2 737633 14702039,12477932,17474147 737633 27079 NM_152260,AC091045,CH471125,U67934,AK055971,BC007697,BC016967,CR597785,CR608473,CR624718,AK293145,AK301383,AK301706 NP_689473,EAW92428,AAB07777,BAB71059,AAH07697,AAH16967,Q8IZ73,BAG56692,BAG62923,BAG63178 Hs.173311 C15orf19|C18B11|FLJ31409 C18B11 homolog (44.9kD)|RNA pseudouridylate synthase domain-containing protein 2 protein-coding 1351633 RPUSD3 RNA pseudouridylate synthase domain containing 3 737633 14702039,12477932,17207965 737633 285367 NM_001142547,NM_173659,AC018809,CH471055,AK092026,AK093620,AK291888,AK296202,AK299556,BC032135,BC049846,BC062362,BC065741,CR618540,AK094587 NP_001136019,NP_775930,EAW64006,EAW64007,EAW64008,EAW64009,BAC03794,BAF84577,BAH12281,BAG61501,AAH32135,AAH62362,AAH65741,Q6P087,ADQ32221 Hs.33719 FLJ34707|FLJ37268|MGC29784 OTTHUMP00000207563|OTTHUMP00000207566|OTTHUMP00000207567|OTTHUMP00000207568|RNA pseudouridylate synthase domain-containing protein 3 protein-coding 1345355 RPUSD4 RNA pseudouridylate synthase domain containing 4 14702039,12477932,9373149,20445134,20877624,16344560,17577209,8125298,8889548 84881 NM_032795,AP001893,CH471065,AK027400,AK225320,AK308059,BC014131,CR608864,AK300723,BE260782,BU679173,DB051034,DB542764,NM_001144827 NP_116184,EAW67675,EAW67676,BAB55086,AAH14131,Q96CM3,BAG62396,NP_001138299 Hs.150458 FLJ14494 RNA pseudouridylate synthase domain-containing protein 4 protein-coding 1322982 RQCD1 RCD1 required for cell differentiation1 homolog (S. pombe) 1580863 15209511,17643375,19724902,17452450,18377426,9447985,18180299,12477932,12356739,20878056 9125 AB500892,NM_005444,AC012510,CH471063,D87957,AK293281,AK296037,AK316567,BC007102,BC137455,BC137456 BAJ07307,NP_005435,EAW70624,EAW70625,BAA13508,BAH11481,BAG58803,BAG38156,AAH07102,AAI37456,AAI37457,Q92600 Hs.148767 CNOT9|CT129|RCD1|RCD1+ cancer/testis antigen 129|cell differentiation protein RCD1 homolog|protein involved in sexual development|rcd-1|rcd1 (required for cell differentiation, S.pombe) homolog 1 protein-coding 736416 RRAD Ras-related associated with diabetes 2311703,2311705,2311702,2311701,2311704,1580863 20079427,8248782,18056528,17672918,17525370,17195088,16866878,16511212,15489334,15342556,12477932,11280768,10611312,10441394,9677319,9115241,8889549,8798502,8781531,8557685,7876254,7859947,10359610,20460530 2311703,2311705,2311702,2311701,2311704 6236 NM_004165,NM_001128850,AC009084,CH471092,U46165,AK290613,BC011645,BC057815,BP257026,L24564,N93445 ABM82877,ABM86063,NP_004156,NP_001122322,EAW83053,EAW83054,EAW83055,AAB17064,BAF83302,AAH11645,AAH57815,AAA36540,P55042,Q92788 Hs.1027 RAD|RAD1|REM3 GTP-binding protein RAD|RAS (RAD and GEM) like GTP binding 3|ras associated with diabetes protein-coding 1349440 RRAGA Ras-related GTP binding A 633888,2308795 7499430,14660641,8995684,11073942,9394008,18029348,15489334,15164053,12477932,16189514 633888,2308795 10670 NM_006570,AL356000,CH471071,AK313023,BC006433,BC009990,BX346838,BX442654,CR591467,CR592193,CR594384,CR594824,CR596958,CR598267,CR598303,CR598727,CR601089,CR602605,CR602626,CR602698,CR602736,CR608617,CR610370,CR610906,CR611753,CR612004,CR615353,CR617628,CR623089,CR623775,CR626021,CR626147,CR626305,CR626633,U41654,X90529 NP_006561,CAH72136,EAW58653,BAG35858,AAH06433,AAH09990,AAB63255,CAA62131,Q7L523 Hs.702275 FIP-1|FIP1|RAGA adenovirus E3 14.7 kDa-interacting protein 1|adenovirus E3-14.7K interacting protein 1|rag A|ras-related GTP-binding protein A protein-coding 1350224 RRAGAP Ras-related GTP binding A pseudogene 12508121,12508121 387488,100462776 AL049870,NG_027270 RRAGAP pseudo 1343212 RRAGB Ras-related GTP binding B Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 633888,2308795 7499430,11073942,18029348,9394008,16344560,15772651,15489334,12766061,12477932 633888,2308795 10325 NM_016656,NM_006064,AL139277,AL159987,CH471154,AK289407,AL831926,BC034726,BX641797,CD676755,DB246060,DB252202,X90530 NP_057740,NP_006055,CAI40804,CAI40805,CAI40806,CAH70826,CAH70827,CAH70828,EAW93227,EAW93228,EAW93229,BAF82096,CAD38586,AAH34726,CAA62132,Q5VZM0,Q5VZM2,ACE87188,ACE86507 Hs.50282 RAGB|bA465E19.1 GTP-binding protein ragB|rag B|ras-related GTP-binding protein B protein-coding 1323384 RRAGC Ras-related GTP binding C RRAGC is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM] 2308795 11073942,14660641,16710414,15489334,14702039,12477932,11145883,16189514 2308795 64121 NM_022157,AL139260,CH471059,AF272035,AF323609,AK023373,AK298573,AK298788,AK315791,BC016668 AAG32662,NP_071440,CAI23049,EAX07293,EAX07294,AAG45221,BAB14548,BAG60765,BAG60926,AAH16668,Q9HB90,ABM82660,ABM85837 Hs.532461 FLJ13311|GTR2|RAGC GTPase-interacting protein 2|Rag C protein|TIB929|ras-related GTP-binding protein C protein-coding 1320660 RRAGD Ras-related GTP binding D RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM] 2308795,1580863 20379614,14660641,11073942,15900300,15489334,14702039,14574404,12477932 2308795 58528 AF272036,AJ420486,AK126164,AK289799,AL137502,AL523999,BC003088,CR597649,CR602554,CR614317,CR624974,DB472739,NM_021244,AL138717,CH471051 EAW48554,AAG32663,BAF82488,CAB70775,AAH03088,Q9NQL2,NP_067067,CAB99361,CAB99362 Hs.31712 DKFZp761H171|FLJ44176|RAGD|bA11D8.2.1 OTTHUMP00000016854|Rag D protein|ras-related GTP-binding protein D protein-coding 1322910 RRAS related RAS viral (r-ras) oncogene homolog 1580863 3098437,17474147,19116136,19011236,17664272,17107957,16914723,16754664,16537651,15525681,15489334,15297673,15242332,15031288,12890755,12548599,12529399,12477932,12386818,11857081,11560935,11042683,10848612,10777492,10713701,10671570,10570155,10412982,10224125,8232588,7809086,7761092,12620389,16773572,17163575,19805522,19843518,20385769,20585650 6237 NM_006270,AC011495,CH471177,M14949,AF493920,BC016286,BC016318,BT006805,CR541944,CR541967,CR626325 NP_006261,EAW52506,EAW52507,AAA60256,AAM12634,AAH16286,AAH16318,AAP35451,CAG46742,CAG46765,P10301,ABM81656,ABM83354,ABM86568 Hs.515536 Oncogene RRAS|p23|ras-related protein R-Ras protein-coding 1321899 RRAS2 related RAS viral (r-ras) oncogene homolog 2 10557073,10498616,10224125,10064593,8052619,2108320,10783161,16169070,20811707,10777492,12620389,19047159,18628988,17656362,17081983,15761153,15489334,15342556,15308774,15031288,12477932,12384139,11857081,11850823,11788587,11335720,15451670,19561613,19692568,21085126 22800 NM_012250,NM_001102669,AC011084,CH471064,AF493924,AK309550,AK309683,AK313976,BC013106,BP206021,BX324335,CB961515,CR592913,DC368033,M31468,AA873016,AK299606,AK300103,AK302033,BG428983,BP206589,BQ020351,BQ023701,NG_017058,NM_001177314,NM_001177315 NP_036382,NP_001096139,EAW68486,EAW68487,AAM12638,BAG36690,AAH13106,AAA36545,P62070,BAH13078,BAH13210,BAH13612,NP_001170785,NP_001170786 Hs.502004,Hs.712835 TC21 ras-like protein TC21|ras-related protein R-Ras2|teratocarcinoma oncogene protein-coding 1315209 RRBP1 ribosome binding protein 1 homolog 180kDa (dog) Analysis of cDNA clones indicates that ribosome binding protein 1 may exist in different forms due to removal of tandem repeats, or partial intraexonic splicing of RRBP1. The form presented here is lacking the canine p180 ribosome-binding domain, NQGKKAEGAQ, which is tandemly repeated close to the N-terminus in other forms that haven't been fully characterized. RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq] 1580863 18029348,9628588,19425502,19037105,18083570,17634287,17081983,16964243,15489334,15302935,15231748,15184079,14702039,12477932,12168954,11780052,10718198,8812507,2165568,17353931,20647306,19932094 6238 NM_004587,NM_001042576,AL132765,CH471133,AB037819,AB287347,AF006751,AF007575,AK093465,AK098319,AK309197,AL833822,BC000099,BC009700,BC020482,BC080526,BC108741,BC128577,BC128578 CAC10587,CAM20086,NP_004578,NP_001036041,CAH74034,EAX10273,BAA92636,BAF73807,AAC25977,AAC25978,BAG52723,CAD38684,AAH00099,AAH09700,AAI08742,AAI28578,AAI28579,Q05DK7,Q32NB1,Q9P2E9 Hs.472213 DKFZp586A1420|ES/130|ES130|FLJ36146|MGC157720|MGC157721|hES 180 kDa ribosome receptor homolog|ES/130-related protein|OTTHUMP00000030333|RRp|ribosome receptor protein|ribosome-binding protein 1 protein-coding 1322078 RREB1 ras responsive element binding protein 1 1580863 9305772,8816445,18394891,15342556,15302935,15067362,14702039,12700765,12700664,12482979,12477932,10390538,9367691,20884846,19558368,19802870,19890057,20379614,20385826 6239 NM_001003699,NM_001003698,AL139095,AL355336,AL589644,CH471087,AB019254,AB019351,AB019352,AF072825,AF072826,AK022160,AK022442,AW505424,BC032062,BC042910,BC111386,BC131599,BP365591,BX647723,D49835,U26914,HM369360,HM369361,BI818966,NG_016201,NM_001003700,NM_001168344 NP_001003699,NP_001003698,CAI16450,CAH73521,CAI14574,EAW55198,EAW55199,EAW55200,BAD32776,BAD32778,BAD32779,AAC25598,AAC26118,AAH42910,AAI31600,BAA23165,AAB19094,Q92766,AAI72432,ADO14468,ADO14469,NP_001003700,NP_001161816 Hs.298248 FINB|HNT|LZ321|RREB-1|Zep-1 DNA-binding protein|OTTHUMP00000213909|finger protein in nuclear bodies|hindsight homolog|raf-responsive zinc finger protein LZ321|ras-responsive element-binding protein 1|zinc finger motif enhancer binding protein 1|zinc finger motif enhancer-binding protein 1|zinc finger motif-enhancer binding-protein 1 protein-coding 1319017 RRH retinal pigment epithelium-derived rhodopsin homolog Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq] 1580863 9275222,17167409,15761153,12542842,11329013,12477932,18240029,20332099 10692 NM_006583,AC126283,BK000958,CH471057,AF012270,BC128120,BC128121,BC128401,BG189259 NP_006574,DAA00976,EAX06255,AAC51757,AAI28121,AAI28122,AAI28402,O14718 Hs.658310 peropsin|visual pigment-like receptor peropsin protein-coding 737409 RRM1 ribonucleotide reductase M1 This gene encodes one of two non-identical subunits that constitute ribonucleoside-diphosphate reductase, an enzyme essential for the production of deoxyribonucleotides prior to DNA synthesis in S phase of dividing cells. It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region. [provided by RefSeq] 1580863,2316863 20587610,20627363,20021860,20811706,7557993,3891388,3275546,3044582,1840662,1677928,1627826,16169070,17602053,17486094,17131328,17065054,17064812,16966686,16481328,16476973,16376858,15489334,15342556,15324660,15277258,15172981,14729598,14702039,14583450,12789263,12687015,12615712,12578384,12477932,11781084,10441745,9933563,9373149,8386696,8188248,8125298,11517226,19552012,19304340,19002265,18636187,18494946,18483375,18414411,20819778,19543324,20028759,20043067,20159953,20226083,20453000 2316863 6240 NG_027992,NM_001033,AC015689,AF107045,AF391285,CH471158,L10342,X65708,AK222786,AK297988,AK299629,AK301891,AK301922,AK303394,AK307950,AK311593,BC006498,BP229960,BQ775841,CR619525,CR622023,X59543,X59617 NP_001024,AAD37491,EAX02583,BAD96506,BAG60296,BAG61557,BAG63322,BAG63343,BAG64450,AAH06498,CAA42118,CAA42180,P23921,Q53GZ5,ABM83954,ABM87271 Hs.445705 R1|RIR1|RR1 ribonucleoside-diphosphate reductase large subunit|ribonucleoside-diphosphate reductase subunit M1|ribonucleotide reductase M1 polypeptide|ribonucleotide reductase large subunit|ribonucleotide reductase m1|ribonucleotide reductase, R1 subunit|ribonucleotide reductase, large subunit protein-coding 736125 RRM2 ribonucleotide reductase M2 This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. [provided by RefSeq] 1580863,2324950,2324953 20484015,20587610,17222798,1627826,11517226,19250552,19082948,19002265,18941749,18414411,18278438,17486094,16964243,16376858,15815621,15489334,15096505,14729598,14702039,14661056,14583450,12694192,12655059,12615712,12477932,11978970,11978967,11781084,10631117,9990288,7937751,3311968,16344560,19416980,19568409,19639316,20056645,20155784,20825972 2324950,2324953 6241 CR625489,S40301,X59618,NM_001034,AC104794,AC118058,AF149206,AY032750,AK092671,AK123010,BC001886,BC028932,BC030154,BM994533,CR590959,CR596700,CR602054,CR602150,CR603461,CR603569,CR604378,CR608076,CR609838,CR614990,CR618451,CR621427,AK313719,CR625440,CR620509,DA477511,NM_001165931 AAA09577,CAA42181,P31350,Q8N6S3,Q9UKM0,ABM82789,ABM85978,NP_001025,AAX93099,AAD53261,AAK51163,BAG52588,BAG53847,BAG36462,AAH01886,AAH28932,AAH30154,NP_001159403 Hs.226390 R2|RR2|RR2M OTTHUMP00000115511|OTTHUMP00000214026|ribonucleoside-diphosphate reductase subunit M2|ribonucleotide reductase M2 polypeptide|ribonucleotide reductase m2|ribonucleotide reductase small chain|ribonucleotide reductase small subunit protein-coding 1314438 RRM2B ribonucleotide reductase M2 B (TP53 inducible) 1580863 19667227,19138848,19082948,18760875,18505925,18504129,18474260,17671702,17486094,16872707,16846634,16778101,16407418,16376858,16236544,16127747,15489334,14729598,14702039,14583450,12565178,12477932,11719458,11517226,10980602,10716435,19015526,15856024,12615712,20484015,18029348,20819778,19664747,19728742 50484 NM_015713,AB036532,AP001328,AP002907,CH471060,DQ027001,AB036063,AB163437,AB163438,AB166670,AB166671,AK001965,AK023605,AK304354,AL137348,BC042468,BC042948,BC108261,BC117496,BC130628,BX509409,CR617553,CR627376,DC308409,NG_016617,NM_001172477,NM_001172478 NP_056528,BAA92493,EAW91840,EAW91841,EAW91842,AAY29059,BAA92434,BAD11774,BAD11775,BAD12266,BAD12267,BAA92005,BAG65196,CAB70703,AAH42468,AAI08262,AAI17497,AAI30629,CAH10473,Q6AI41,Q7LG56,ACE87230,ACE86549,ADR82944,NP_001165948,NP_001165949 Hs.512592 DKFZp686M05248|MGC102856|MGC42116|MTDPS8A|MTDPS8B|P53R2|p53R2 TP53-inducible ribonucleotide reductase M2 B|p53-inducible ribonucleotide reductase small subunit 2 homolog|p53-inducible ribonucleotide reductase small subunit 2-like protein|ribonucleoside-diphosphate reductase subunit M2 B protein-coding 1344712 RRM2P1 ribonucleotide reductase M2 polypeptide pseudogene 1 6243 1346940 RRM2P2 ribonucleotide reductase M2 polypeptide pseudogene 2 3311968 6244,6244 AL592295,NG_012978 pseudo 1346765 RRM2P3 ribonucleotide reductase M2 polypeptide pseudogene 3 9847074,3311968 6245 NG_000870,AC018719,AL133344 pseudo 1349541 RRM2P4 ribonucleotide reductase M2 polypeptide pseudogene 4 3311968 6246 NG_000871,AL049588 pseudo 1347637 RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 19615732,12393749,12646563,18559419,18047649,15489334,15004009,12620228,12477932,11265758,11250903,10758157,9373149,8889548,8125298,15558034,19214185 54700 NM_018427,AC139256,CH471301,AF227156,AJ272050,AK225662,AK295486,AK300253,AK302994,AK303405,AK304856,AK314769,AK316520,AL110238,BC036182,BC071868,BC104660,BC132688,BC132690,BU676519 NP_060897,EAW54754,AAF66160,CAC07955,BAG58409,BAG62018,BAG64131,BAG64459,BAG65594,BAG37307,BAH14891,AAH71868,AAI04661,AAI32689,AAI32691,O75703,Q3MHU9,Q9NYV6,ADR83091 Hs.460078 DKFZp566E104|MGC104238|TIFIA RNA polymerase I-specific transcription initiation factor RRN3|TIF-IA|rrn3 rna polymerase i transcription factor homolog (yeast)|transcription initiation factor IA|transcription initiation factor TIF-IA protein-coding 2795592 RRN3P2 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2 9373149 653390 AC009093,AK225670,AK298442,AK301253,DC420905,NR_003369 BAG60661,BAG62820 Hs.720348 pseudo 2800575 RRN3P3 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 12477932,14702039 100131998 AC092338,AC106788,AK055742,BC037959,NR_027460 Hs.709576 pseudo 1605116 RRP1 ribosomal RNA processing 1 homolog (S. cerevisiae) The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq] 16780588,9192856,16344560,15489334,12477932,12429849,12209604,11790298,10830953,10341208,8125298,9373149,18029348,19204726 8568 NM_003683,AP001053,AP001752,CH471079,AI634547,AK223185,AK223215,AK303000,AK313116,AL137757,AY033999,BC000380,BC014787,BG829556,BI223794,CR594938,CR598523,CR601038,CR603071,CR603110,CR615660,CR620655,CR624766,DA275615,U79775 NP_003674,BAA95542,EAX09470,EAX09471,EAX09472,BAD96905,BAD96935,BAG64135,CAB70909,AAK57542,AAH00380,AAH14787,AAC51625,P56182,Q53FR7,Q6PJJ2,Q96J73,ABM82317,ABM85493 Hs.110757 D21S2056E|NNP-1|NOP52|RRP1A Nnp1 homolog, nucleolar protein|RRP1-like protein|novel nuclear protein 1|nucleolar protein Nop52|protein NNP-1|ribosomal RNA processing protein 1 homolog A protein-coding 1343951 RRP12 ribosomal RNA processing 12 homolog (S. cerevisiae) 737633 17353931,17081983,16964243,16565220,15635413,15489334,15302935,15164054,14702039,12477932,12429849,12421765,11790298,9734811,16385451,20379614 737633 23223 NM_001145114,NM_015179,AL355490,CH471066,AB014590,AK000238,AK021460,AK022496,AK056614,AK131283,AK296315,AL832924,BC002621,BC012745,BC042908 NP_001138586,NP_055994,CAI40776,CAI40777,EAW49946,EAW49947,EAW49948,BAA31665,BAG51077,BAG51764,BAG54759,BAG59012,CAH10606,AAH02621,AAH12745,Q5JTH9 Hs.434251 DKFZp762P1116|FLJ20231|KIAA0690 RRP12-like protein protein-coding 1606298 RRP15 ribosomal RNA processing 15 homolog (S. cerevisiae) This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. [provided by RefSeq] 18029348,17353931,15769876,15489334,15302935,12477932,11790298,10810093,9455484,19615732 51018 NM_016052,AC096638,AC099337,CH471100,AB007976,AF151873,AK290066,AW029169,BC003668,BC020641,BF242786,CR591830,CR622638 NP_057136,EAW93329,AAD34110,BAF82755,AAH03668,AAH20641,Q9Y3B9 Hs.660109 CGI-115|KIAA0507|MGC22291 RRP15-like protein|ribosomal RNA-processing protein 15 protein-coding 1313777 RRP1B ribosomal RNA processing 1 homolog B (S. cerevisiae) 1580863 15231747,16780588,18081427,17081983,16964243,16565220,15635413,15489334,14702039,12477932,12429849,11790298,8724849,10637318,18029348,19710015,19825179,20040599,20379614 23076 NM_015056,AP001052,CH471079,AK056263,AK124620,BC014005,BC028386,BE544027,BX479134,CR601179,CR605276,D80001 NP_055871,EAX09480,EAX09481,EAX09482,EAX09483,AAH14005,AAH28386,BAA11496,Q14684,Q6PJM8 Hs.654727 KIAA0179|NNP1L|Nnp1|RRP1 RRP1-like protein B|ribosomal RNA processing protein 1 homolog B protein-coding 1607047 RRP7A ribosomal RNA processing 7 homolog A (S. cerevisiae) 18029348,16565220,15489334,14702039,12477932,12087473,11790298,10810093,10591208,15342556 27341 NM_015703,AL022316,CH471138,AK092492,AK314650,AY039240,BC031838,BC035992,BC041639,BC042335,BC063537,BC064560,BC073834,BC121118,BC121119,CR591597,CR598821,CR622688,BP314581 NP_056518,CAQ10429,EAW73254,BAG37211,AAK68659,AAH31838,AAH41639,AAH42335,AAH63537,AAH73834,AAI21119,AAI21120,Q9Y3A4 Hs.652399 BK126B4.3|CGI-96|MGC150422|MGC150423 CTA-126B4.5|gastric cancer antigen Zg14|ribosomal RNA-processing protein 7 homolog A protein-coding 2302835 RRP7B ribosomal RNA processing 7 homolog B (S. cerevisiae) 16303743,14702039,12477932 91695 NR_002184,AK074492,AK098201,AL157851,BC007736,BC014647,BC053540,BC143340,CR622757 BAG51960,CAB75937,Q9NSQ0 Hs.534041 dJ222E13.2 pseudo 1603685 RRP8 ribosomal RNA processing 8, methyltransferase, homolog (yeast) 18485871,17081983,16964243,16565220,15489334,12477932,12429849,11790298,9455477,19615732,19819226 23378 AB007869,BC001071,CR607023,CR619123,CR619836,D87060,CH471064,NM_015324,AC009796,AC091564 EAW68691,BAA23705,AAH01071,BAB46916,O43159,NP_056139 Hs.652255 KIAA0409 RRP8 methyltransferase homolog|cerebral protein 1|nucleomethylin|ribosomal RNA-processing protein 8 protein-coding 1317332 RRP9 ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 12429849,12381732,12032086,11790298,10982864,15574333,9418896,19333934,17081983,15761153,15635413,15489334,12477932,19913121,20628086 9136 NM_004704,AC115284,CH471055,AJ001340,AK313696,BC001113,BC009879,BC010048,BC021032,BC023662,CR598977,CR609263,CR618123 NP_004695,EAW65159,CAA04687,BAG36443,AAH01113,AAH09879,AAH10048,AAH23662,O43818,ABM86728,ABW03815 Hs.153768 RNU3IP2|U3-55K RNA, U3 small nucleolar interacting protein 2|RRP9 homolog|RRP9, small subunit (SSU) processome component, homolog|RRP9, small subunit (SSU) processome component, homolog (yeast)|U3 small nucleolar RNA-interacting protein 2|U3 small nucleolar ribonucleoprotein-associated 55 kDa protein|U3 snoRNP-associated 55 kDa protein|U3 snoRNP-associated 55-kDa protein|rna, u3 small nucleolar interacting protein 2 protein-coding 1322847 RRS1 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 1580863 15489334,12477932,12429849,11790298,10688653,7788527,19465021,16189514,15635413 23212 NM_015169,AC009879,CH471068,AK024716,BC001811,BC013043,CR592451,CR607844,CR622558,CR625499,D25218 NP_055984,EAW86900,AAH01811,AAH13043,BAA04948,Q15050,ABM83698,ABW03546 Hs.71827 KIAA0112 homolog of yeast ribosome biogenesis regulator|homolog of yeast ribosome biogenesis regulatory protein RRS1|ribosome biogenesis regulatory protein RRS1 homolog|ribosome biogenesis regulatory protein homolog protein-coding 1347162 RS1 retinoschisin 1 This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq] 1580863,1600147,1600148 19324861,19474399,19849666,20151283,20809529,10915776,19393523,19390641,18982040,18834580,18728755,18369700,17987333,17852193,17804407,17631851,17615541,17515881,17296904,17295148,17286855,17172462,17093404,17031297,16768192,15772651,15644328,15531314,15281981,14986011,12967815,12920343,12782284,12746437,12457918,12417531,12383832,12107411,12055472,11983912,10533068,10450864,10234514,10220153,10079181,9760195,8889548,2032721,9326935,20569020,20806044,20801516 1600147,1600148 6247 NM_000330,NG_008659,AF018963,CH471074,Z92542,Z94056,AF014459,AL049684,BQ185379,BQ636812,DQ426892 NP_000321,AAC18405,EAW98942,CAI42483,CAI42776,AAC17928,ABD90543,O15537,Q0QD39,AAI40344,AAI41639 Hs.715725 RS|XLRS1 X-linked juvenile retinoschisis protein|retinoschisin|retinoschisis (X-linked, juvenile) 1 protein-coding 1347932 RSAD1 radical S-adenosyl methionine domain containing 1 737633 14702039,12477932,9373149,20877624,8125298 737633 55316 NM_018346,AC021491,CH471109,AK002026,AK022105,AK024628,AK222472,AK293814,AK297655,BC005854,BC050538,CR621437 AAH50538,NP_060816,EAW94610,BAA92043,BAB13962,BAD96192,BAG57220,BAG60022,AAH05854,Q9HA92 Hs.8033 FLJ11164|FLJ20975 oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1|radical S-adenosyl methionine domain-containing protein 1, mitochondrial protein-coding 1345303 RSAD2 radical S-adenosyl methionine domain containing 2 737633,1580863 20534863,9391139,16108059,16982913,19074433,18768981,18077728,18005724,17626075,16849320,15890971,12477932,11752458,19920176,20026307,20176015,20628624 737633 91543 NM_080657,AC017076,CH471053,AF026942,AF442151,AK300085,AK312670,BC017969,CR598269,CR601894 NP_542388,AAY14802,EAX01034,EAX01035,AAL50053,BAG61888,BAG35552,AAH17969,Q8WXG1,ABM82903,ABM86094 Hs.17518 2510004L01Rik|cig33|cig5|vig1 cytomegalovirus-induced gene 5 protein|radical S-adenosyl methionine domain-containing protein 2|viperin|virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible protein-coding 1347428 RSBN1 round spermatid basic protein 1 737633 19565500,18305142,14724137,14702039,12477932,8889549,20379614 737633 54665 NM_018364,AL137856,AL365321,CH471122,AA682921,AK002082,AK022166,AK292552,AL050064,BC026155,BQ062524,BX478083,CR627402,N66761 NP_060834,CAI19067,CAH72507,EAW56570,EAW56571,EAW56572,BAB13974,BAF85241,AAH26155,CAH10493,Q5VWQ0,BAA92075 Hs.486285 DKFZp781E21150|ROSBIN|RP11-324J2.1 OTTHUMP00000013723|round spermatid basic protein 1 protein-coding 1351057 RSBN1L round spermatid basic protein 1-like 737633 16344560,15146197,12690205,12477932,20383146 737633 222194 NM_198467,AC004955,CH236949,CH471091,AK124517,AK127713,BC046193,BC046353,BC059402,CN311934,CR592968,CR620544,CR623998,DA097202 NP_940869,EAL24197,EAW77033,BAC85872,BAC87096,AAH46353,AAH59402,Q6PCB5 Hs.592289,Hs.72451 FLJ42526|FLJ45813|MGC71764 OTTHUMP00000208235|round spermatid basic protein 1-like protein protein-coding 1349878 RSC1A1 regulatory solute carrier protein, family 1, member 1 1580863 8836035,2675563,17686765,16788147,16788146,14724758,14702039,11018680,18029348,20800603 6248 NM_006511,AL121992,CH471167,X82877,AK314753,CS436830,CS436838 NP_006502,CAI95731,EAW51744,CAA58058,BAG37292,Q92681,AAI52938,CAL64679,CAL64683 Hs.239459,Hs.709169 RS1 hRS1|regulatory solute carrier protein family 1 member 1|transporter regulator RS1 protein-coding 1322599 RSF1 remodeling and spacing factor 1 HBXAP is involved in transcription repression, transcription coactivation when associated with hepatitis B virus X protein (HBX), and chromatin remodeling and spacing when associated with SNF2H (MIM 603375).[supplied by OMIM] 1580863 12972596,11788598,11944984,9836642,19475691,19190325,18519663,18314909,18289639,17081983,16964243,16418735,16172393,15489334,15242768,15009096,14702039,12477932,7815490,20923775,20228782 51773 NM_016578,AP000580,AP000609,AP002343,CH471076,AF059317,AF227948,AF380176,AK001268,AL602953,BC000774,BC015360,BC046124,BC046347 NP_057662,EAW75033,EAW75034,EAW75035,AAG43114,AAF61709,AAK57515,BAA91591,AAH15360,AAH46124,Q05DG0,Q96T23,AAI48327,AAI53211 Hs.420229 HBXAP|RSF-1|XAP8|p325 HBV pX associated protein-8|HBV pX-associated protein 8|hepatitis B virus x associated protein|hepatitis B virus x-associated protein|hepatitis b virus x associated protein|p325 subunit of RSF chromatin-remodeling complex|remodeling and spacing factor 1 protein-coding 1344817 RSHL1 radial spokehead-like 1 The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq] 11256614,9373149,8125298,16381901,11076863,15489336,14702039,12477932,11237735,11230166,16344560 81492 NM_030785,AC011530,AC092301,CH471126,AK093068,AK098837,AK223347,AL136761,BC057785,BC136351,BC136352,BC144018,HC007272,HC044529,DB037465 NP_110412,EAW57388,BAD97067,CAB66695,AAH57785,AAI36352,AAI36353,Q9H0K4,CAL38364,AAI46684,CBH19441,CBH30594 Hs.146544 RSHL1|RSP4|RSP6|RSPH4B ortholog of mouse radial spokehead-like 1|radial spoke head protein 6 homolog A|radial spoke head-like protein 1|radial spokehead-like 1 protein-coding 1350657 RSL1D1 ribosomal L1 domain containing 1 19710015,17353931,17158916,18678645,17081983,16964243,16565220,16083285,15880258,15635413,15489334,15334068,15302935,12963728,12477932,12429849,11790298,9859858 26156 NM_015659,AC010654,CH471112,AF074987,AF083127,AJ007398,AK000822,AK025446,AK295935,AL049999,AY154473,AY598331,BC009802,BC016362,BC017899,BC019069,BC070325,BC107782,BC112228,BC113699,BI856275,CR599700,CR600844 NP_056474,EAW85133,EAW85134,EAW85135,AAF98239,CAA07491,BAG58720,CAB43231,AAN46298,AAT06742,AAH16362,AAH17899,AAH19069,AAI07783,AAI12229,AAI13700,O76021,Q32Q62,ADR83016,ADR83180 Hs.401842 CSIG|DKFZP564M182|L12|MGC138433|MGC142259|PBK1 CATX-11|cellular senescence inhibited gene protein|cellular senescence-inhibited gene protein|ribosomal L1 domain-containing protein 1 protein-coding 1320309 RSL24D1 ribosomal L24 domain containing 1 This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals. [provided by RefSeq] 17207965,18562305,16189514,15635413,15489334,15231747,14702039,12808088,12477932,12429849,11707418,20237496 51187 NM_016304,AC011912,CH471082,AB462502,AF060926,AF165521,AF201949,AF212226,AK055713,AK315431,BC005344,BC008409,BC008422,BC008449,BC008499,BC009593,BC009604,BC012913,BC014576,BC016312,BC016331,BC016725,BC016777,BC026266,BC026267,BC028672,BC093067,CR457179,CR591767,CR594934,CR598587,CR599165,CR612184,CR615334,CR621791,BC035995 ADQ32560,NP_057388,EAW77473,EAW77474,EAW77475,AAG43138,AAF86651,AAF17241,AAK26249,BAG51559,BAG37819,AAH08409,AAH08422,AAH08449,AAH08499,AAH09593,AAH09604,AAH12913,AAH14576,AAH16312,AAH16331,AAH16725,AAH16777,AAH26266,AAH26267,AAH28672,AAH35995,AAH93067,CAG33460,Q9UHA3 Hs.274772 C15orf15|HRP-L30-iso|L30|RLP24|RPL24|RPL24L|TVAS3 60S ribosomal protein L30 isolog|homolog of yeast ribosomal like protein 24|my024 protein|probable ribosome biogenesis protein RLP24|ribosomal L24 domain-containing protein 1|ribosomal protein L24-like protein-coding 1349992 RSL24D1P ribosomal L24 domain containing 1 pseudogene 100129755 NG_009885,AL009179 RPL24p|RPL30BP|RSL24D1P|dJ97D16.2 pseudo 2974689 RSL24D1P10 ribosomal L24 domain containing 1 pseudogene 10 100130699 AC106806,NG_022991 pseudo 3419586 RSL24D1P11 ribosomal L24 domain containing 1 pseudogene 11 18951430,19890347 284288 AADB02019696,ABBA01056141,AC022724,XM_001714653,XM_210365,XM_939247 XP_001714705,XP_210365,XP_944340 ribosomal L24 domain containing 1 pseudogene 11 protein-coding 3340247 RSL24D1P2 ribosomal L24 domain containing 1 pseudogene 2 100129162 AC092155,CH471053,NG_023155 EAW99974 pseudo 2947004 RSL24D1P3 ribosomal L24 domain containing 1 pseudogene 3 100130721 AC092685,NG_023002 pseudo 2975370 RSL24D1P4 ribosomal L24 domain containing 1 pseudogene 4 391183 AC118471,NG_028107 RSL24D1P19 pseudo 3160485 RSL24D1P5 ribosomal L24 domain containing 1 pseudogene 5 100129941 AC078814,NG_022995 pseudo 3184210 RSL24D1P7 ribosomal L24 domain containing 1 pseudogene 7 19896111 100129861 AC019176,AC105998 pseudo 3051027 RSL24D1P8 ribosomal L24 domain containing 1 pseudogene 8 100462809 AC022415,NG_021758 pseudo 3378364 RSL24D1P9 ribosomal L24 domain containing 1 pseudogene 9 100128991 AC011260,NG_023017 pseudo 1317061 RSPH1 radial spoke head 1 homolog (Chlamydomonas) 1580863 16780588,17451891,15489334,14702039,12477932,9578619,9403069 89765 NM_080860,AP001624,AP001625,CH471079,AB006536,AB041016,AK057315,AK314746,BC101519,BC113367 NP_543136,EAX09556,EAX09557,EAX09558,BAB83694,BAB92995,BAG37286,AAI01520,AAI13368,Q8WYR4,ADR82898 Hs.661069 MGC126568|MGC141927|RSP44|RSPH10A|TSA2|TSGA2 CT79|cancer/testis antigen 79|h-meichroacidin|male meiotic metaphase chromosome-associated acidic protein|meichroacidin|radial spoke head 1 homolog|testes specific A2 homolog|testes specific a2 homolog (mouse)|testes specific gene A2 homolog|testis specific A2 homolog|testis-specific gene A2 protein protein-coding 1605260 RSPH10B radial spoke head 10 homolog B (Chlamydomonas) 16507594,14702039,12477932 222967 NM_173565,AC004983,AC005995,BC034495,BC157864,BC157871 NP_775836,AAH34495,AAI57865,AAI57872,B2RC85,P0C881 Hs.442339 MGC50833|RSPH10B2 OTTHUMP00000201304|OTTHUMP00000201305|radial spoke head 10 homolog B|radial spoke head 10 homolog B2 protein-coding 2300131 RSPH10B2 radial spoke head 10 homolog B2 (Chlamydomonas) 14702039,12477932 728194 NM_001099697,AC073343,AC079882,AK093411,AK294481,AK314983,BC044242 NP_001093167,BAG52711,BAH11784,BAG37482,AAH44242,B2RC85,P0C881 Hs.710326 FLJ36092|FLJ54347|FLJ95901|RSPH10B OTTHUMP00000200676|OTTHUMP00000200679|radial spoke head 10 homolog B|radial spoke head 10 homolog B-like|radial spoke head 10 homolog B2 protein-coding 1322691 RSPH3 radial spoke 3 homolog (Chlamydomonas) 737633 15225872,14702039,12477932,19684019 737633 83861 NM_031924,AL035530,CH471051,AF353618,AK057655,AK057931,BC011590,BC035675,BC050604,CR624562 NP_114130,CAI19235,CAI19236,EAW47641,EAW47642,EAW47643,AAK26432,BAB71544,BAB71615,AAH50604,Q86UC2 Hs.154628 RSHL2|RSP3|dJ111C20.1 OTTHUMP00000017517|OTTHUMP00000017518|radial spoke head 3 homolog|radial spoke head 3 homolog (Chlamydomonas)|radial spoke head protein 3 homolog|radial spoke head-like protein 2|radial spoke protein 3|radial spokehead-like 2 protein-coding 1348763 RSPH4A radial spoke head 4 homolog A (Chlamydomonas) Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein (see MIM 603297) arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009 [PubMed 19200523]).[supplied by OMIM] 19200523,14702039,12477932,8889548 345895 NM_001010892,NM_001161664,AL132795,CH471051,AK095293,AK299754,BC022879,BC106949,CB851663,NG_012934 NP_001010892,NP_001155136,CAI20496,CAI20497,EAW48219,EAW48220,BAG53021,BAG61643,AAI06950,Q5TD94 Hs.160380,Hs.625134 CILD11|FLJ37974|MGC126303|RSHL3|RSPH6B|dJ412I7.1 radial spoke head protein 4 homolog A|radial spoke head-like protein 3|radial spokehead-like 3 protein-coding 1321745 RSPH9 radial spoke head 9 homolog (Chlamydomonas) Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein (see MIM 603297) arms. RSPH9 is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009 [PubMed 19200523]).[supplied by OMIM] 19200523,15489334,14702039,14574404,12477932,16344560,20070851 221421 DA486918,NG_023436,NM_001193341,NM_152732,AL136131,CH471081,AK055407,AK291399,BC029519,CR591492 NP_001180270,NP_689945,CAC19508,CAI19961,EAX04220,EAX04221,EAX04222,BAB70918,BAF84088,AAH29519,Q96NH9,Q9H1X1 Hs.534585 C6orf206|CILD12|FLJ30845|MRPS18AL1 mitochondrial ribosomal protein S18A-like 1|radial spoke head protein 9 homolog protein-coding 1603515 RSPO1 R-spondin homolog (Xenopus laevis) This gene is a member of the R-spondin family and encodes a secreted activator protein with two cystein-rich, furin-like domains and one thrombospondin type 1 domain. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. [provided by RefSeq] 20442404,19376480,18242177,18085567,17804805,17041600,16710414,16344560,16306530,16109882,15489334,14732490,14702039,12477932 284654 NM_001038633,NG_012239,AL513220,CH471059,AK098225,BC114966,CA438631,DB273983,DQ165084,DQ165085,DQ318235,HH797330 ABA54597,NP_001033722,CAI15785,CAM12882,CAM12883,EAX07331,BAC05263,AAI14967,ABA54598,ABC54570,Q0H8S6,Q2MKA7,CBX87729 Hs.135015 CRISTIN3|FLJ40906|RP11-566C13.1|RSPO OTTHUMP00000004516|OTTHUMP00000180611|OTTHUMP00000180612|OTTHUMP00000180613|R-spondin-1|R-spondin1|hRspo1|roof plate-specific spondin|roof plate-specific spondin-1 protein-coding 1603855 RSPO2 R-spondin 2 homolog (Xenopus laevis) R-spondins (RSPOs), such as RSPO2, are secreted proteins that regulate beta-catenin (CTNNB1; MIM 116806) signaling (Kim et al., 2006 [PubMed 16357527]).[supplied by OMIM] 16357527,16344560,15489334,15469841,12975309,12477932 340419 NM_178565,AC025508,AP003479,CH471060,AK123023,AK123027,AY358166,BC027938,BC036554,DA400238 NP_848660,EAW91913,EAW91914,EAW91915,EAW91916,BAG53852,BAG53855,AAQ88533,AAH27938,AAH36554,Q6UXX9 Hs.444834 CRISTIN2|MGC35555|MGC43342 R-spondin-2|hRspo2|roof plate-specific spondin-2 protein-coding 1345376 RSPO3 R-spondin 3 homolog (Xenopus laevis) This gene encodes a member of the thrombospondin type 1 repeat supergene family. In addition, the protein contains a furin-like cysteine-rich region. Furin-like repeat domains have been found in a variety of eukaryotic proteins involved in the mechanism of signal transduction by receptor tyrosine kinases. [provided by RefSeq] 1580863 19084217,18978678,16357527,20935629,15489334,14702039,14574404,12477932,12463421,10842357,12643280,20379614 84870 AL590733,CH471051,AA568446,AF086298,AF251057,AK314912,BC022367,CR621431,AL031776,NM_032784 CAI20141,CAI20142,CAH71124,CAH71125,EAW48114,EAW48115,EAW48116,AAK34947,BAG37424,AAH22367,Q9BXY4,ABM82333,ABM85509,NP_116173 Hs.135254 CRISTIN1|FLJ14440|PWTSR|THSD2 R-spondin-3|hPWTSR|hRspo3|protein with TSP type-1 repeat|roof plate-specific spondin-3|thrombospondin type-1 domain-containing protein 2|thrombospondin, type I, domain containing 2|thrombospondin, type i, domain containing 2|thrombospondin-like protein-coding 1344766 RSPO4 R-spondin family, member 4 R-spondins (RSPOs), such as RSPO4, are secreted proteins that regulate beta-catenin (CTNNB1; MIM 116806) signaling (Kim et al., 2006 [PubMed 16357527]).[supplied by OMIM] 17186469,17596144,18779895,18070203,17914448,17805348,16357527,15144186,14702039,11780052,8889548,17041604 343637 NG_013043,NM_001029871,AL050325,CH471133,AK122609,BQ185331,DQ355152,NM_001040007 NP_001035096,NP_001025042,CAB65783,EAX10652,EAX10653,ABC75877,Q2I0M5,AAI56853 Hs.444980 C20orf182|CRISTIN4|FLJ16018|dJ824F16.3 R-spondin-4|chromosome 20 open reading frame 182|hRspo4|roof plate-specific spondin-4 protein-coding 1606482 RSPRY1 ring finger and SPRY domain containing 1 15489334,14702039,12975309,12477932,11853319,19549727 89970 NM_133368,AC009090,CH471092,CS300510,AB075852,AK027549,AK124601,AK172845,AL834402,AY358548,BC013173 NP_588609,EAW82909,EAW82910,EAW82911,CAK32174,BAB85558,BAG51341,BAD18809,CAD39064,AAQ88912,AAH13173,Q96DX4 Hs.460885 KIAA1972 RING finger and SPRY domain-containing protein 1 protein-coding 1602488 RSRC1 arginine/serine-rich coiled-coil 1 15798186,19065146,16169070,15489334,12477932,19913121,20628086,17207965,20379614 51319 NM_016625,AC074276,AC106707,AC112502,AC112774,AC129107,CH471052,AF208853,AK290334,AK300388,BC006982,BC010357 NP_057709,EAW78692,EAW78693,EAW78694,AAF64267,BAF83023,BAG62122,AAH06982,AAH10357,Q96IZ7,ADQ32651 Hs.591283 BM-011|MGC12197|SFRS21|SRrp53 OTTHUMP00000213444|OTTHUMP00000213446|OTTHUMP00000213451|arginine/serine-rich coiled coil 1|arginine/serine-rich coiled-coil protein 1|serine/Arginine-related protein 53|splicing factor, arginine/serine-rich 21 protein-coding 1606784 RSRC2 arginine/serine-rich coiled-coil 2 17203224,16713569,14702039,12477932,16344560 65117 CR600375,CR606990,CR615030,CR615900,CR623961,NM_023012,AC127002,CH471054,AB212664,AF161432,AK001883,AK023985,AK056114,AK056256,AK094465,BC008684,BC067773,BX640711,BX647884,CA442478,CR591855,NR_036434,NR_036435,NR_036436,DB081070 Q7L4I2,Q9P068,NP_075388,EAW98327,EAW98328,EAW98329,EAW98330,EAW98331,EAW98332,BAE93762,AAF28992,BAG50986,BAB14755,AAH08684,AAH67773,CAE45830 Hs.432996 FLJ11021 arginine/serine-rich coiled-coil protein 2 protein-coding 1344044 RSS Russell Silver syndrome 1633648,8403458 140821 1313402 RSU1 Ras suppressor protein 1 This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq] 1580863 17353931,1508180,18436335,15878342,15489334,15242332,14702039,12665801,12510772,12477932,9373149,8816460,8288261,8125298,8076819,7624154,16385451,19019082,20379614 6251 BC005993,BC008384,BC008691,BC015644,BC016337,BC065296,BC107898,BG400752,BX647733,CR536521,CR541840,NM_012425,AC073367,AL365215,CH471072,EF445013,AK023951,AK024109,AK055596,AK092036,AK225681,AK292911,AK312520,NM_152724 BAG35419,AAH05993,AAH08691,AAH15644,AAI07899,CAG38758,CAG46639,Q15404,Q32Q10,NP_689937,NP_036557,CAH73632,CAH73633,EAW86222,EAW86223,EAW86224,ACA06048,ACA06049,ACA06050,BAF85600 Hs.524161 FLJ31034|RSP-1 OTTHUMP00000019217|OTTHUMP00000019218|ras suppressor protein 1|ras suppressor protein 1 variant 1|ras suppressor protein 1 variant 2|ras suppressor protein 1 variant 3|rsu-1 protein-coding 1347723 RSU1P1 Ras suppressor protein 1 pseudogene 1 414239 1606213 RTBDN retbindin 15489334,14702039,12477932,12107411,19862010,17207965 83546 AK093672,AY028917,BC005063,NM_031429,NM_001080997,AC020934,CH471106 BAC04217,AAK26169,AAH05063,Q6ZPB2,Q8N210,Q9BSG5,NP_113617,NP_001074466,EAW84314,EAW84315,EAW84316,ADQ31883 Hs.21162 FLJ36353 retbindin protein-coding 1344520 RTCD1 RNA terminal phosphate cyclase domain 1 RNA 3-prime-terminal phosphate cyclase (RPC; EC 6.5.1.4) catalyzes the ATP-dependent conversion of a 3-prime phosphate to a 2-prime,3-prime-cyclic phosphodiester at the end of RNA (Genschik et al., 1997 [PubMed 9184239]).[supplied by OMIM] 1323842,1580863 18029348,19615732,19690099,9184239,16344560,15489334,12477932,8889548,2199762,17353931 1323842 8634 NM_003729,NM_001130841,AL445928,AL663111,CH471097,Y11652,AI587400,AK292366,AK299793,AK307445,AU310497,BC012604,CA437545,CF141820,CR595281,CR595704,CR606775,CR620930,DA361597,DB576272,Y11651 O00442,NP_003720,NP_001124313,CAH72259,CAH72260,CAH72261,CAH73852,CAH73853,EAW72961,EAW72962,CAA72365,BAF85055,BAG61672,AAH12604,CAA72364 Hs.484222 RPC RNA 3'-terminal phosphate cyclase|RNA cyclase|RNA terminal phosphate cyclase domain-containing protein 1|RNA-3'-phosphate cyclase|RTC domain containing 1|RTC domain-containing protein 1|phosphate cyclase protein-coding 1313725 RTDR1 rhabdoid tumor deletion region gene 1 This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq] 1580863 10607907,18391951,16189514,15761153,15489334,15461802,12477932 27156 NM_014433,AC000029,CH471095,AF133587,AK299530,AK310327,BC008986,CR456567 NP_055248,EAW59557,AAF02484,BAH13060,AAH08986,CAG30453,Q9UHP6,CAK54598,CAK54897 Hs.526920 MGC16968 rhabdoid tumor deletion region protein 1 protein-coding 1345647 RTEL1 regulator of telomere elongation helicase 1 In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. In addition, Rtel is required for telomere elongation. Therefore, the mouse Rtel gene regulates chromosome stability and telomere length. This gene is the human ortholog of the mouse Rtel gene, so its protein product may play similar roles in humans. It is located in a gene-rich cluster on chromosome 20, with other potential tumor-related genes, such as TNFRSF6B. Multiple transcript variants encoding different isoforms have been described for this gene, although the full-length nature of not all variants is known. [provided by RefSeq] 19913121,20610542,20628086,11780052,10655513,10470851,18957201,15210109,14702039,12477932,12168954,20847058,19578366,19578367,20368557,20462933,21102463 51750 NM_016434,AF217796,AL121845,AL353715,CH471077,AF217795,AK000485,AK131105,AK299332,AK302508,AK304798,AL080127,AL157435,NM_032957 NP_116575,NP_057518,AAF35243,CAC16223,CAC28319,CAI17958,CAM25345,CAM25346,EAW75238,EAW75239,EAW75240,EAW75241,EAW75245,AAF33687,BAA91197,BAC85155,BAG61337,BAG63785,BAG65548,CAB45725,Q9NZ71 Hs.434878 C20orf41|DKFZp434C013|KIAA1088|NHL|RTEL|bK3184A7.3 OTTHUMP00000221856|OTTHUMP00000221858|OTTHUMP00000221859|novel helicase-like|regulator of telomere elongation helicase 1|regulator of telomere length protein-coding 1321684 RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 737633 17353931,18029348,18184592,17081983,15632063,15489334,12477932,12168954,9039502,18469135,20379614,17576814,20881960 737633 23168 NM_015138,AC087721,CH471125,AI871361,AK292302,AW291085,BC015052,BF979715,CD367287,CR600802,CR601195,D87440,NG_027680 NP_055953,EAW92490,EAW92491,EAW92492,BAF84991,AAH15052,BAA13382,Q92541 Hs.511096 CDG1N|GTL7|KIAA0252 RNA polymerase-associated protein RTF1 homolog|ortholog of mouse gene trap locus 7 protein-coding 1354382 RTKN rhotekin This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 14506264,18854161,19360360,19805522,10940294,16007136,15480428,19294487,17546647,16979770,16646955,15761153,15599595,15489334,15316142,12879077,12516569,12477932,10873388,9847074,9073523,12593858,8662891,15834426,15889147,15766663,15694321,15467718,15652748 6242 AK308519,NM_001015056,NM_033046,AC005041,CH471053,AF049227,AF290512,AK307302,AW410753,BC004558,BC017727,NM_001015055,BG470092,BQ574374,BQ721791,CR599244 NP_001015055,NP_001015056,NP_149035,EAW99674,EAW99675,EAW99676,AAL16767,AAG01181,AAH04558,AAH17727,Q9BST9,ABM82397,ABW03397 Hs.192854 rhotekin protein-coding 1312504 RTKN2 rhotekin 2 1580863 15504364,15120425,14702039,12477932,16385451,19430483,20936779 219790 AC024597,AL607150,CH471083,AK096671,AY150309,BC025765,BC048002,BC141821,BC142725,NM_145307,CR749217,GN344023 NP_660350,CAI15188,CAI15189,EAW54230,EAW54231,EAW54232,BAC04837,AAN71738,AAH25765,AAI41822,AAI42726,CAH18074,Q5SVY4,Q8IZC4,AAI60167,CAY55947 Hs.58559 DKFZp686J10120|PLEKHK1|bA531F24.1 PH domain-containing family K member 1|pleckstrin homology domain containing, family K member 1|pleckstrin homology domain-containing family K member 1|rhotekin-2 protein-coding 1602404 RTL1 retrotransposon-like 1 This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq] 18176563,16155747,16093683,15854907,12796779,12508121,12477932,19966805 388015 NM_001134888,AL117190,BC150617 NP_001128360,AAI50618,A6NKG5 Hs.298602 MART1|Mar1|PEG11 mammalian retrotransposon derived protein 1|paternally expressed gene 11 protein|retrotransposon-derived protein PEG11|retrotransposon-like protein 1 protein-coding 732399 RTN1 reticulon 1 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Alternatively spliced transcript variants encoding different isoforms have been identified. Multiple promoters rather than alternative splicing of internal exons seem to be involved in this diversity. [provided by RefSeq] 1580863 19665976,19668229,20379614,8833145,19140693,17596210,17303085,16602018,16189514,15489334,15286784,14995077,14702039,12873973,12832288,12477932,11126360,9560466,8900485,8889548,8275708,8062278,7844160,7685762,7515034,15117958,20708685 6252 CR620778,CR622105,CR622144,CR623614,CR626841,DQ355431,L10333,L10334,L10335,NM_206857,NM_206852,AL121694,AL133299,AL139194,CH471061,AK128113,AK290534,AK297492,BC000314,BC003003,BC068510,BC090862,BC111694,BG704578,BM671733,BX449967,CR457030,CR590119,CR590533,CR591277,CR591505,CR591662,CR591857,CR593929,CR595047,CR596045,CR596361,CR597727,CR598114,CR598721,CR599775,CR600625,CR600951,CR601949,CR602021,CR602238,CR602429,CR602646,CR603070,CR603795,CR604011,CR604750,CR606033,CR606583,CR607343,CR609190,CR609607,CR611210,CR612754,CR614370,CR616369,CR616883,CR616915,CR618902,CR619313,NM_021136 ABC71342,AAA59950,AAA59951,AAA59952,Q16799,Q2L7A7,Q2NKQ5,Q6IAX4,NP_066959,NP_996739,NP_996734,EAW80762,EAW80763,EAW80764,BAF83223,BAH12591,AAH00314,AAH03003,AAH90862,AAI11695,CAG33311 Hs.368626 MGC133250|NSP OTTHUMP00000165248|neuroendocrine-specific protein|reticulon-1 protein-coding 1351891 RTN2 reticulon 2 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 19720795,9693037,18096700,15345747,15286784,12832288,12477932,10672514,9530622,8812484,14499622 6253 NM_005619,NM_206901,AC138534,CH471126,AA845604,AF004222,AF004223,AF004224,AF038540,AK291967,AK314158,BC014244,BC073874,BK001686,BK001687,BK001688,BK001689,NM_206900,BK001691,BM548456,CR612056,BK001690 NP_996783,NP_005610,NP_996784,EAW57354,EAW57355,EAW57356,EAW57357,EAW57358,EAW57359,AAC32542,AAC32543,AAC32544,AAC14910,BAF84656,AAH73874,DAA01944,DAA01932,DAA01933,DAA01934,DAA01936,O75298,Q6GMT0,Q7RTM9,Q7RTN0,Q96CG9,DAA01935 Hs.47517 NSP2|NSPL1 NSP-like protein 1|NSP-like protein I|NSPLI|Neuroendocrine-specific protein-like 1|neuroendocrine-specific protein-like I|reticulon-2 protein-coding 1349287 RTN3 reticulon 3 The reticulons are a group of highly conserved genes with preferential expression in neuroendocrine tissues (see, e.g., RTN1; MIM 600865).[supplied by OMIM] 1580863 10331947,19386906,19364499,19284479,17699523,17379544,17191123,17182608,17081983,17031492,16979658,16965550,16847569,16303743,16189514,16054885,15946766,15799019,15560370,15489334,15350194,15286784,15117958,14986927,14702039,12873973,12832288,12811824,12477932,12054434,9373149,8125298,18029348,19405102,19521671,19669607,19730683,20379614 10313 AK308083,AK309766,AY427821,AY750848,BC000634,BC000865,BC010556,BC011394,BC022993,BC100822,BC100823,BC105981,BC105982,BC118550,BC118628,BK001681,BK001682,BK001683,BK001684,BK001685,CR592349,CR596154,CR601675,CR602829,CR606090,CR607815,CR609229,CR609823,CR614083,CR614599,AK307811,CR619650,CR624616,NM_201429,NM_201428,NM_201430,NM_006054,AF059529,AP000753,AP006289,CH471076,CQ754316,CQ754322,CS051431,AB209771,AF059524,AF119297,AK075412,AK094965,AK122727,AK127079,AK222898,AK295361,AK295534,AK295758,AK297529,AK297533,AK304100 AAR02474,AAU81930,AAH00634,AAH00865,AAH10556,AAH11394,AAH22993,AAI00823,AAI00824,AAI05982,AAI05983,AAI18551,AAI18629,DAA01941,DAA01942,DAA01930,DAA01943,DAA01931,O95197,Q7RTN4,Q9BVW7,AAI48633,NP_958832,NP_958831,NP_958833,NP_006045,AAD20951,EAW74164,EAW74165,EAW74166,EAW74167,EAW74168,EAW74169,EAW74170,CAF32494,CAF32497,CAI72209,BAD93008,AAC99319,AAD26810,BAG52134,BAD96618,BAH12044,BAH12097,BAH12179,BAH12606,BAH12607,BAH14104 Hs.725985 ASYIP|HAP|NSPL2|NSPLII|RTN3-A1 ASY interacting protein|NSP-like protein 2|NSP-like protein II|homolog of ASY protein|isoforme III|isoforme VI|neuroendocrine-specific protein-like 2|neuroendocrine-specific protein-like II|reticulon-3 protein-coding 1354047 RTN3PS reticulon 3 pseudogene 724607 724607 359808 730919 RTN4 reticulon 4 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq] 2314957,1580863 17353931,15694321,10667780,10048485,16169070,20599731,12426574,12692556,12951563,17335080,17474147,18583979,19405102,19508346,19553259,19587271,19654939,19665976,19889996,20018888,20379614,15820318,15749087,15661375,15498874,15489336,15489334,15345747,15286784,15245492,15234466,15147731,14741411,14702039,14592966,12811824,12618765,12510146,12488097,12477932,12425946,12377379,12270696,12089450,12067236,12037567,11891768,11866689,11358445,11201742,11076863,11042152,15953657,10773680,11126360,10667797,15034570,19336839,19165527,19054571,19035836,18948092,18685489,18495952,18234903,18080785,17971502,17764014,17645629,17626519,17592524,17455292,17437522,17242333,17081983,17029193,17022955,16979658,16965550,16905119,16835300,16772867,16646068,16629624,16381901,16189514,16095439,10667796,20975041 2314957 57142 HC469555,NM_207520,NM_020532,NM_207521,NM_007008,AC013414,AC092461,AC093165,AY102285,CH471053,CQ829486,CS061793,AB015639,AB020693,AB040462,AB040463,AB073351,AB073359,AF063601,AF077050,AF087901,AF125103,AF132047,AF132048,AF148537,AF148538,AF177332,AF320999,AF333336,AI671568,AJ251383,AJ251384,AJ251385,AK075039,AK090714,AK093785,AK098385,AK129806,AK130812,AK172726,AK302741,AY102276,AY102277,NM_153828,AY102279,AY123245,AY123246,AY123247,AY123248,AY123249,AY123250,BC001035,BC007109,BC010737,BC012619,BC014366,BC016165,BC026788,BC068991,BC071848,BC150182,BC152425,BC152555,CR611869,DQ778739,AY102278,HA642584,HI649219 CBL54390,NP_722550,NP_997403,NP_065393,NP_997404,NP_008939,AAY24239,AAX93116,AAY24029,AAM64240,AAM64241,AAM64242,AAM64243,AAM64244,EAX00115,EAX00116,EAX00117,EAX00118,EAX00119,EAX00120,EAX00121,EAX00122,EAX00123,EAX00124,EAX00125,EAX00126,EAX00127,EAX00128,EAX00129,EAX00130,EAX00131,EAX00132,CAH03193,CAI79370,BAA83712,BAA74909,BAB18927,BAB18928,BAE45714,BAE45717,AAG43160,AAD27783,AAG12205,AAD39920,AAD31021,AAD31022,AAG12176,AAG12177,AAG17976,AAG40878,AAK20831,CAB99248,CAB99249,CAB99250,BAG63956,AAM64245,AAM64246,AAM64247,AAM64248,AAM64249,AAM64250,AAM64251,AAM64252,AAM64253,AAM64254,AAH01035,AAH07109,AAH10737,AAH12619,AAH14366,AAH16165,AAH26788,AAH68991,AAH71848,AAI50183,AAI52426,AAI52556,ABG76010,Q3LIF1,Q3LIF4,Q53R94,Q53RF4,Q53SY1,Q6IPN0,Q7L7Q5,Q7L7Q6,Q8IUA4,Q9NQC3,CAL37631,CAL37982,CAL38000,CAL38158,CAL38414,CAL38434,AAI39929,CAZ39560,CBX89232 Hs.429581 ASY|NI220/250|NOGO|NOGO-A|NOGOC|NSP|NSP-CL|Nbla00271|Nbla10545|Nogo-B|Nogo-C|RTN-X|RTN4-A|RTN4-B1|RTN4-B2|RTN4-C Human NogoA|My043 protein|OTTHUMP00000201800|foocen|neurite growth inhibitor 220|neurite outgrowth inhibitor|neuroendocrine-specific protein C homolog|reticulon 5|reticulon-4|reticulon-5 protein-coding 1348834 RTN4IP1 reticulon 4 interacting protein 1 This gene encodes a novel mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. The interaction of reticulon 4 with mitochondrial proteins may provide insight into the mechanisms for reticulon-induced inhibition of neurite growth. 1580863 16189514,15489334,14702039,14574404,12477932,12160746,12067236,20379614,20877624 84816 NM_032730,A52373,AL390074,CH471051,AF336861,AF439711,AK095207,AK313962,AY063761,BC006399,BE894352,BQ936729,CR601619 NP_116119,CAA03396,CAH72095,EAW48409,EAW48410,EAW48411,AAK64603,AAL34525,BAC04499,BAG36678,AAL40856,AAH06399,Q8WWV3,Q96RL8,ABM84071,ABM87437 Hs.155839 MGC12934|NIMP NOGO-interacting mitochondrial protein|reticulon-4-interacting protein 1, mitochondrial protein-coding 1607007 RTN4R reticulon 4 receptor This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq] 11201742,11256614,19439611,19386899,19328785,19052207,18043741,17959786,17188332,17182778,16897606,16381901,16342940,15749087,15532024,15489336,15489334,15461802,15340161,15331667,14966521,14702039,12975309,12839991,12718853,12477932,12422217,12378589,12183616,12160746,20844138,16341674,12089450,12068310,12037567,11891768,11230166,11076863,10591208,15953414,15694321,15694322,12426574,12692556,12951563,17335080,20398908,20524398 65078 NM_023004,NG_012176,AC007663,CH471176,AF283463,AK054602,AL834449,BC011787,BM762412,CR456360,CR590252,CR595137,CR601215,CR620900,HC469551 NP_075380,EAX02975,EAX02976,AAG53612,CAD39109,AAH11787,CAG30246,Q9BZR6,CAL38146,CAK54501,CAK54800,ABM83817,ABM87137,CBL54388 Hs.30868 NGR|NOGOR Nogo-66 receptor|OTTHUMP00000197866|UNQ330/PRO526|nogo receptor|reticulon-4 receptor protein-coding 1348623 RTN4RL1 reticulon 4 receptor-like 1 1580863 12694398,14664809,12839991,12477932,12068310 146760 NM_178568,AC099684,AC130689,CH471108,AF532859,AI680692,AL535679,AL834409,AY250219,BC023311,BC128608,BK001305 NP_848663,EAW90570,EAW90571,AAP21836,CAD39071,AAP82836,AAI28609,DAA01388,Q86UN2 Hs.22917 DKFZp547J144|NGRH2|NgR3 Nogo-66 receptor homolog 2|Nogo-66 receptor-related protein 3|nogo receptor-like 2|reticulon-4 receptor-like 1 protein-coding 1344970 RTN4RL2 reticulon 4 receptor-like 2 1580863 12694398,14664809,18337405,16554811,15629437,15489334,12839991,12477932 349667 AP002893,CH471076,AF532858,AY250221,BC113673,BC117276,BC143818,BK001302,DQ864979,NM_178570 NP_848665,EAW73747,EAW73748,AAP21835,AAP82838,AAI13674,AAI17277,AAI43819,DAA01385,ABI23432,Q0GGW3,Q86UN3 Hs.502618 NGRH1|NgR2 Nogo-66 receptor homolog 1|nogo receptor-like 3|nogo-66 receptor-related protein 2|reticulon-4 receptor-like 2 protein-coding 1604751 RTP1 receptor (chemosensory) transporter protein 1 16720576,16271481,15489334,12477932,15550249,17387175 132112 AC007920,CH471052,AY562235,BC034744,BC065202,NM_153708 NP_714919,EAW78155,AAT70680,AAH34744,AAH65202,P59025,ABM81733,ABM84888 Hs.518480 MGC35450 receptor transporter protein 1|receptor transporting protein 1|receptor-transporting protein 1 protein-coding 1606102 RTP2 receptor (chemosensory) transporter protein 2 15550249,16720576,16271481,15489334,12477932,17207965 344892 NM_001004312,AC072022,CH471052,AY562236,BC068081 NP_001004312,EAW78144,AAT70681,AAH68081,Q5QGT7,ADQ32015 Hs.567872 MGC78665 receptor transporter protein 2|receptor transporting protein 2|receptor-transporting protein 2 protein-coding 1353966 RTP3 receptor (chemosensory) transporter protein 3 1580863 16720576,17693185,16271481,15550249,11896456,12477932,20175129 83597 AJ312776,AY562237,BC131756,NM_031440,AC098613,CH471055 CAC37401,AAT70682,AAI31757,Q9BQQ7,NP_113628,EAW64768 Hs.196584 LTM1|TMEM7 receptor transporter protein 3|receptor transporting protein 3|receptor-transporting protein 3|transmembrane protein 7 protein-coding 1605965 RTP4 receptor (chemosensory) transporter protein 4 16720576,16271481,15550249,15489334,12477932 64108 NM_022147,AC068299,CH471052,AJ251832,AY562238,BC013161,CA413859 NP_071430,EAW78148,CAC14309,AAT70683,AAH13161,Q96DX8,ABM81972,ABM85151 Hs.43388 IFRG28 28 kDa interferon-responsive protein|28kD interferon responsive protein|receptor transporter protein 4|receptor transporting protein 4|receptor-transporting protein 4 protein-coding 1315475 RTTN rotatin RTTN is required for the early developmental processes of left-right (L-R) specification and axial rotation and may play a role in notochord development (Faisst et al., 2002 [PubMed 11900971]).[supplied by OMIM] 14702039,12477932,11900971 25914 NM_173630,AC011930,AC021701,CH471117,AK096404,AK126538,AK128137,AK129866,AL117635,BC007359,BC013774,BC026879,BC046222,BC046931,BC047602,BC143723,BF507420,CR749799 NP_775901,EAW66516,EAW66517,EAW66518,EAW66519,EAW66520,EAW66521,BAC86583,BAC87292,CAB56025,AAH07359,AAH26879,AAH46222,AAH47602,CAH18659,Q86VV8,AAI56292 Hs.654809 DKFZp434G145|FLJ26356|FLJ39085 rotatin protein-coding 1312929 RUFY1 RUN and FYVE domain containing 1 1580863 16344560,15489334,15342556,14702039,14617813,12477932,11877430,11172003,20534812 80230 NM_025158,NM_001040451,NM_001040452,AC136604,CH471165,AB209507,AF312367,AF361055,AK025904,AK075021,AK093848,AK291926,BC016564,BC032571,BP358497,BQ014374,DA811890,DA925727 NP_079434,NP_001035541,NP_001035542,EAW53810,BAD92744,AAQ14554,AAK50771,BAB15276,BAG52773,BAF84615,AAH32571,Q96T51 Hs.306769 FLJ22251|RABIP4|ZFYVE12 FYVE-finger protein EIP1|OTTHUMP00000223250|OTTHUMP00000223301|RUN and FYVE domain-containing 1|RUN and FYVE domain-containing protein 1|la-binding protein 1|rab4-interacting protein|zinc finger FYVE domain-containing protein 12 protein-coding 1312074 RUFY2 RUN and FYVE domain containing 2 1580863 15164054,14702039,12477932,11877430,10819331,17207965,16385451 55680 NM_001042417,NM_017987,AC016395,AL136233,CH471083,AB040970,AF411980,AF461266,AK055646,AK094214,AK127019,AY528716,BC020659,BC030097,BC041092,BC062660,BG681628,BM150360,BQ006812,AK091629,AK294211 NP_060457,NP_001035882,CAI17232,CAI17235,EAW54290,EAW54291,EAW54292,EAW54293,EAW54294,ADQ32994,EAW54295,BAA96061,AAL04164,AAL67520,BAG54424,AAT44401,AAH41092,Q5GIA6,Q5TC51,Q8WXA3,BAG57521 Hs.653144 FLJ10063|KIAA1537|RABIP4R|ZFYVE13 RUN and FYVE domain-containing 2|RUN and FYVE domain-containing protein 2|Run- and FYVE-domain containing protein|antigen MU-RMS-40.17|rab4-interacting protein related protein-coding 1604831 RUFY3 RUN and FYVE domain containing 3 15489334,15342556,14702039,12477932,10048485,16169070,17439943,16344560,20376209 22902 NM_014961,NM_001037442,NM_001130709,AC009570,CH471057,AA987739,AB020678,AF112221,AK000911,AK294421,AK296501,AK302637,BC051716,BC053837,BC071988,BC098433,BE670566,BM920380,BP202281,BU622102,CR593161,CR598922,DA015234,DA248021,DB051039,DB482497,DB483639,AC021989 NP_055776,NP_001032519,NP_001124181,EAX05629,EAX05630,BAA74894,AAF17208,BAG50837,BAG57670,BAG59134,BAG63879,AAH51716,Q7L099,ABZ92309 Hs.727495 KIAA0871|RIPX|SINGAR1 OTTHUMP00000219124|protein RUFY3|rap2 interacting protein x|rap2-interacting protein x|singar|single axon-regulated protein|single axon-related 1 protein-coding 1602820 RUFY4 RUN and FYVE domain containing 4 12477932,16344560 285180 NM_198483,AC010136,AC124768,CH471063,AK128393,AK131246,BC113712,BX641664,NR_034176,AW452848,DA958158 NP_940885,EAW70588,BAC87417,AAI13713,Q6ZNE9,ADR82969 Hs.570069 FLJ46536 RUN and FYVE domain-containing protein 4 protein-coding 1316714 RUNDC1 RUN domain containing 1 737633 14702039,12477932 737633 146923 NM_173079,AC055866,CH471152,AK055627,AL831813,AY189284,BC014873,BC039247,CA445450,DC391927 NP_775102,EAW60907,EAW60908,CAD38528,AAO86728,AAH14873,AAH39247,Q96C34 Hs.632255 DKFZp761H0421 RUN domain-containing protein 1 protein-coding 1353142 RUNDC2A RUN domain containing 2A 737633 19773279,14702039,12477932,8889548 737633 84127 NM_032167,AC007216,AC007601,AK022425,BQ185857 NP_115543,BAB14033,Q9HA26 Hs.458401 FLJ12363 RUN domain-containing protein 2A protein-coding 1343949 RUNDC2B RUN domain containing 2B 15489334,12477932,17207965 400509 AC008740,AC025279,BC041583,XM_003118717 AAH41583,Q8IUI4,XP_003118765,ADQ32105 Hs.658149 RUN domain containing 2B|RUN domain-containing protein 2B|RUNDC2-like protein protein-coding 1352523 RUNDC2C RUN domain containing 2C 12477932 440352 AC025279,NR_002939,AC008740,BC024293,BX648280 Q9H8C5 Hs.658149 pseudo 1605704 RUNDC3A RUN domain containing 3A 9523700,16713569,16344560,16189514,12477932,9373149,9110174,8619474,8125298,17207965 10900 NM_006695,NM_001144825,NM_001144826,AC003043,CH471178,AB209802,AF055026,AK123330,AK226045,AK313669,AL133657,BC006194,BC013240,BX537443,CR456748,CR622819,DA299778,U93871 NP_006686,NP_001138297,NP_001138298,EAW51608,EAW51609,EAW51610,EAW51611,EAW51612,BAD93039,AAC09366,BAG36421,CAB63771,AAH06194,CAD97685,CAG33029,AAB68767,Q59EK9,ADQ31763 Hs.500197 RAP2IP|RPIP-8|RPIP8 RUN domain-containing protein 3A|RaP2 interacting protein 8|rap2-interacting protein 8 protein-coding 1601714 RUNDC3B RUN domain containing 3B 19913121,20628086,15986426,14702039,12690205,12645870,12477932 154661 NM_001134405,NM_001134406,AC002457,AC003083,CH236949,CH471091,AK055233,AK091536,AK293607,AK294039,AY033596,BC022520,DC304423,NM_138290 NP_612147,NP_001127877,NP_001127878,EAL24172,EAW76936,EAW76937,EAW76938,EAW76939,BAB70882,BAC03686,BAG57071,BAG57391,AAK52313,AAH22520,Q96NL0 Hs.411488 FLJ30671|MGC26655|RPIB9|RPIP9 RPIP-9|RUN domain-containing protein 3B|Rap2 binding protein 9|Rap2-binding protein 9|Rap2-interacting protein 9 protein-coding 736526 RUNX1 runt-related transcription factor 1 Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2303708,2302136,2302137,1580863 20430957,20682397,20439113,16702405,16917507,17431401,18029348,19337732,19387465,19448675,19458628,19494111,19524548,19603429,19626042,19638627,19665068,19666867,19773259,19808697,19850737,19896186,19917773,19946261,19998443,20001241,20008790,20035012,20111069,20124335,20181616,20195544,20206228,20306685,20308320,20346360,20379614,20421268,20460523,20520634,10207087,11965546,14970218,8565077,8622955,9199349,7862156,19453261,19403666,19357396,19351817,19334039,19328795,19282830,19179469,19167608,19158815,19151769,19144660,19129484,19114653,19100516,19100510,19043539,19020999,19001502,18952841,18925961,18853425,18790797,18767146,18767145,18728978,18724045,18723428,18695000,18687690,18687517,18671852,18668679,18663147,18656694,18635414,18622412,18548094,18539581,18519037,18511808,18487507,18478040,18462252,18445843,18337762,18332109,18328148,18316480,18276842,18206548,18206538,18202291,18202228,18192504,18183572,18166807,18087673,18003885,17996649,17989718,17975013,17956600,17935781,17910630,17894555,17889714,17889709,17854666,17690704,17684492,17673463,17650443,17625612,17589498,17560011,17550866,17533375,17532767,17485549,17394134,17377532,17285576,17234761,17213321,17095626,17079875,17072347,17043020,17017876,17015828,16914570,16964375,16892559,16888092,16821265,16803898,16741927,16684349,16674921,16673018,16652416,16652147,16652140,16628190,16627249,16616331,16598304,16519819,16474840,16442267,16386788,16314494,16307024,16287839,16278392,16249223,16237704,16213368,16177090,16149049,16102112,16042694,15991223,15970674,15968309,15914564,15856017,15829516,15741216,15735013,15728845,15723339,15705784,15704129,15688019,15654961,15618958,15613106,15489901,15475366,15386419,15339695,15333839,15302935,15203865,15184985,15179033,15142881,15142876,15104290,15104277,15061191,15051730,14966519,14752096,14747476,14703694,14702039,14623259,14615365,14562119,14561740,14525764,14523475,12937148,12917624,12874780,12773394,12760263,12699896,18768464,9447981,12460926,10531362,12551949,1427868,1423235,12604126,12576332,12560229,12557226,12555067,12554803,12526921,12496475,12495904,12477932,12393679,12393523,12393286,12377125,12356919,12352981,12217689,12200707,12091359,12082641,12072207,12060124,12002768,11986950,11979742,11921279,11830488,11792409,11742995,11641401,11276260,11274169,11203699,11118213,10856244,10830953,10825294,10713153,10675041,10545320,10521447,10508512,10455134,10404214,10228168,10068652,9751710,9119228,8889548,8700862,8634147,8622667,8490181,8413232,8395054,8353289,8334990,8313895,7919324,7891692,7835892,7795214,7780150,7761424,7651838,7541640,7533526,1720541,1560822,12643014,18928518,19581587,20722699,21090242,20339092,19322702,20306249,20506188,20547749,16046550,20686504,19454010,20807887,20970160,21029724,20197715,20589720,20190817,19913121,20520637,20628086,20678218,20735389,20395453,20880116,20946940,21070662,21088106 2303708,2302136,2302137 861 NM_001001890,NM_001122607,NG_011402,AF015262,AF025841,AJ229043,AP000330,AP000331,AP000332,AP000333,AP000334,CH471079,AA878154,AK226159,AK310587,AL581043,AV761975,NM_001754,BC050363,BC110828,BC136380,BC136381,BC144053,BM149149,BX475024,CA503244,CD638998,CR610970,CR622321,D10570,D43967,D43968,D43969,D89788,D89789,D89790,L34598,S60998,S76345,S76346,S76350,U19601,X79549,X90976,X90977,X90979 NP_001745,NP_001001890,NP_001116079,AAC05246,AAC05247,CAA13070,EAX09769,EAX09770,AAI10829,AAI36381,AAI36382,AAI44054,BAA01426,BAA07902,BAA07903,BAA07904,BAA14020,BAA14021,BAA14022,AAA51720,AAB33729,AAB33730,AAB33731,AAB51691,CAA56092,CAA62464,CAA62466,Q01196,Q15342,Q2TAM6 Hs.612648,Hs.149261 AML1|AML1-EVI-1|AMLCR1|CBFA2|EVI-1|PEBP2aB AML1-EVI-1 fusion protein|CBF-alpha-2|OTTHUMP00000108697|OTTHUMP00000108700|OTTHUMP00000108702|PEA2-alpha B|PEBP2-alpha B|SL3-3 enhancer factor 1 alpha B subunit|SL3/AKV core-binding factor alpha B subunit|acute myeloid leukemia 1 protein|aml1 oncogene|core-binding factor subunit alpha-2|core-binding factor, runt domain, alpha subunit 2|oncogene AML-1|polyomavirus enhancer-binding protein 2 alpha B subunit|runt related transcription factor 1|runt-related transcription factor 1 protein-coding 1350261 RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq] 20430957,20487545,18258796,18205948,18183572,18156164,18039847,17996649,17989718,17875504,17625612,17560011,17284535,17244680,17058450,16990610,16892037,16741927,16713569,16652140,16616331,16502583,16189514,15829516,15735013,15723339,15676213,15489334,15377655,15333839,15298716,15295650,18332109,14751048,14703694,14551142,12874834,12773394,12557226,12477932,12427969,12393523,11986950,11983111,11869944,11593431,11591653,11533236,11150306,11113190,11090081,10973986,10951564,10861016,10688654,10675041,10076566,9790752,9661669,9632137,8781439,8575770,8353289,8334990,8137293,7919324,7541640,1423235,1391946,12460926,14982881,15203865,12242670,16966434,17353931,9618262,19289505,19179469,19100510,19043539,19001502,18952841,18687517,18586123,18548094,18519037,16344560,15109542,17649722,19448675,19458628,20090777,14702039,19581587,8619474,9110174,20708017 862 NM_175634,NM_175635,NM_004349,NM_175636,AB074982,AC103680,AC104339,AF018280,AF018282,AF181450,AF198490,CH471060,S74096,AA506749,AF018283,AK297616,AK312592,BC005850,BC067078,BT009871,CR456792,CR619328,D14289,D14821,D43638,X79990,NG_023272,DA499596,DA500281,DA503204,DA504975,DA770917,DA774453,DA776825,DA776968,DA777240,DA779230,DA795825,DA796892,NM_001198625,NM_001198626,NM_001198627,NM_001198628,NM_001198629,NM_001198630,NM_001198631,NM_001198632,NM_001198633,NM_001198634,NM_001198679,DA787376,AF131817,AK057707,AL049240,BC139783,CR601492 NP_783553,NP_783552,NP_004340,NP_783554,BAB88555,AAC28933,AAC28934,AAC28931,AAC28932,AAG33024,EAW91681,EAW91682,EAW91683,EAW91684,EAW91685,EAW91686,AAB32126,AAC26143,BAH12630,BAG35486,AAH05850,AAH67078,AAP88873,CAG33073,BAA03247,BAA03558,BAA07755,CAA56311,Q06455,Q6NXH1,Q71VC2,Q71VC3,Q7Z4J5,Q8TDW8,Q9HBV9,NP_001185554,NP_001185555,NP_001185556,NP_001185557,NP_001185558,NP_001185559,NP_001185560,NP_001185562,NP_001185563,NP_001185608,NP_001185561 Hs.368431,Hs.547787 AML1T1|CBFA2T1|CDR|DKFZp564B213|ETO|FLJ33145|MGC2796|MTG8|MTG8b|ZMYND2 acute myelogenous leukemia 1 translocation 1, cyclin-D related|core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related|cyclin-D-related protein|eight twenty one protein|myeloid translocation gene on 8q22|protein CBFA2T1|zinc finger MYND domain-containing protein 2 protein-coding 1348975 RUNX2 runt-related transcription factor 2 This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq] 2302136,2302137,1580863,1601649 12477932,12434156,12393937,12391164,12270142,12231506,12196916,12162506,12145311,12145308,12112004,12088880,12081718,12060751,11979975,11968014,11857736,11768584,11683913,11668178,11641401,11274169,10980549,10962029,10699973,10689183,10545612,10531362,10521447,10521292,10330183,10228168,9794229,9651525,9434946,9233771,9207800,9182764,8362902,8341710,7835892,7717404,18541707,9119228,12551949,9182762,11965546,12145306,9182765,12217689,19453496,19453261,19424741,19342447,19259136,19116917,19020999,19017541,18986983,18931939,18829534,18829486,18777095,18688176,18653765,18553107,18482578,18442887,18438928,18391951,18381576,18373722,18357615,18321663,18319563,18316777,18223689,18171674,18166138,18082140,17997710,17981598,17973689,17956871,17878995,17702747,17522365,17438369,17434448,17387386,17379770,17360627,17352650,17350616,17251981,17171635,17042739,17000892,16613856,16598384,16476422,16467978,16463420,16442859,16418782,16407259,16299379,16270353,16244783,16237704,16208410,16198163,16187316,16166639,16110492,15933061,15864279,15838892,15798204,15750689,15725473,15665096,15623533,15583032,15537544,15476590,15389579,15304489,15292260,15273700,15262978,15231660,15225881,15193550,15150273,15146197,15051730,14739291,14671302,14639470,14574404,14523023,12815605,12750290,12746842,12732182,12697832,12674332,12631081,12615658,12568398,12554794,20200969,20683987,20946121,21078438,20073986,20225274,19595020,20082326,20530675,20634891,20648631,20721706,16728531,20863401,20053387,20376792,20465837,16421932,18029348,18759297,19147956,19383984,19389811,19422937,19509141,19509297,19515746,19631773,19632824,19649655,19690135,19734454,19739101,19744171,19767586,19801668,19880526,19915614,19949374,20007706,20082269,20097749,20160071,20306685,20379614,20407796,20433876,21088106 2302136,2302137,1601649 860 NM_001024630,NM_001015051,NM_004348,NG_008020,AF001443,AF001444,AF001445,AF001446,AF001447,AF001448,AF001449,AF001450,AF053949,AL096865,AL161907,AL358135,AL513219,AY406695,CH471081,AF053952,AF087960,BC108919,BC108920,CD001961,CN431726,L40992,AL353944 NP_001019801,NP_001015051,NP_004339,AAB65159,AAB65158,AAC77441,CAI19925,CAI19926,CAI19931,CAI19932,CAI19637,CAI19638,CAI19639,CAI19641,CAI13528,CAI13529,CAI13531,CAI13532,EAX04277,EAX04278,EAX04279,EAX04280,EAX04281,EAX04282,AAC78624,AAI08920,AAI08921,AAA89072,Q13950,Q32MY8,Q5T801,Q5T802,AAI60022 Hs.535845 AML3|CBFA1|CCD|CCD1|MGC120022|MGC120023|OSF-2|OSF2|PEA2aA|PEBP2A1|PEBP2A2|PEBP2aA|PEBP2aA1 CBF-alpha 1|CBF-alpha-1|OSF-2|OTTHUMP00000016533|OTTHUMP00000016534|OTTHUMP00000016535|PEA2-alpha A|PEBP2-alpha A|SL3-3 enhancer factor 1 alpha A subunit|SL3/AKV core-binding factor alpha A subunit|acute myeloid leukemia 3 protein|core-binding factor subunit alpha-1|core-binding factor, runt domain, alpha subunit 1|oncogene AML-3|osteoblast-specific transcription factor 2|polyomavirus enhancer binding protein 2 alpha A subunit|polyomavirus enhancer-binding protein 2 alpha A subunit|runt-related transcription factor 2 1643399 BMD5_H protein-coding 1351530 RUNX3 runt-related transcription factor 3 This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2302556,2302136,2302137,2302552,2302557,2302553,2302554,2302551,2302555,1580863,2324957,2324955,2324956,2324958 20492341,20682997,17380460,18426645,18636364,18953836,19521519,19552756,19571605,19596937,19603429,19645591,19695681,19706291,19728008,19800882,19827872,19886737,19917773,19933870,20100835,20190752,20228843,20306685,20353948,20392673,20442291,20160714,20599712,20677014,20211142,20887385,21088106,7835892,9751710,7607690,7622058,18029348,19470943,19403666,19336521,19290488,19223906,19174785,19159630,19015875,19012242,18949360,18937968,18850007,18772112,18717361,18684727,18676844,18668679,18663147,18639281,18580070,18572225,18500170,18494051,18475302,18430739,18349282,18323800,18288406,18259121,18256927,18097595,18058463,17956589,17923751,17914577,17606310,17591929,17591800,17584746,17471240,17470130,17384682,17195845,16984612,16887969,16818622,16767156,16652147,16627973,16582583,16442267,16373335,16367921,16344560,16328045,16234815,16155404,16142337,16140942,16135801,16091737,16080503,15824739,15819721,15780064,15778373,15728469,15688019,15489334,15386419,15273736,15138260,15051926,14760761,14715269,14702039,12907736,12875960,12855590,12824905,12477932,11955451,11733147,16710414,16684349,8437866,10531362,10228168,17353931,20801098,20676134,20631058 2302556,2302136,2302137,2302552,2302557,2302553,2302554,2302551,2324957,2324955,2324956,2324958 864 NM_001031680,NM_004350,AJ238394,AL023096,AL445471,CH471134,CQ834770,U14520,Z38104,Z38108,AF022726,AI375031,AJ001432,AK091829,AK300056,AK301044,AK310945,BC013362,CR591302,DA935726,X79550,Z35278,FB571463,FB571465,HI574042,HI574044 CAI20422,NP_001026850,NP_004341,CAB42882,CAA18856,CAC42093,EAW95147,EAW95148,EAW95149,CAH05600,AAA86465,AAB80759,BAG61865,BAG62657,AAH13362,CAA56093,CAA84541,O14814,Q13761,Q9Y3R8,CAR95149,CAR95150,CBX47510,CBX47511 Hs.170019 AML2|CBFA3|FLJ34510|MGC16070|PEBP2aC CBF-alpha-3|OTTHUMP00000003371|PEA2 alpha C|PEA2-alpha C|PEBP2 alpha C|PEBP2-alpha C|SL3-3 enhancer factor 1 alpha C subunit|SL3/AKV core-binding factor alpha C subunit|acute myeloid leukemia 2 protein|acute myeloid leukemia gene 2|core-binding factor subunit alpha-3|core-binding factor, runt domain, alpha subunit 3|oncogene AML-2|polyomavirus enhancer-binding protein 2 alpha C subunit|runt-related transcription factor 3|transcription factor AML2 protein-coding 1349680 RUSC1 RUN and SH3 domain containing 1 1580863 10760598,19365808,16344560,16303743,15489334,15024033,14702039,12477932,18029348 23623 NM_001105204,NM_001105205,NM_014328,AL139410,CH471121,CQ783792,AB026894,AK055451,AK074485,AK074982,AK093777,AK125378,AK298730,AK307736,AK314559,AL080083,BC001045,BC004293,BC025680,BC028055,BC052277,BC131492,BQ004124,BX640612,CR590186,CR594338,CR594503,CR596817,CR603309,CR603792,CR604047,CR607256,CR615259,CR616457,CR618456,CR620448,CR749671,DA099897,DA131200,NM_001105203 NP_001098673,NP_001098674,NP_001098675,NP_055143,CAI12718,CAI12719,CAI12720,CAI12721,EAW53069,EAW53070,EAW53071,EAW53072,CAF86864,BAA77507,BAG52045,BAG54191,BAG60880,BAG37144,CAB45702,AAH01045,AAH04293,AAH52277,CAE45718,CAH18462,Q5T9U9,Q5T9V0,Q68CX2,Q9BT86,Q9BVN2,ABM84548,ABM86311 Hs.226499 DKFZp761A1822|NESCA OTTHUMP00000015896|RUN and SH3 domain-containing protein 1|new molecule containing SH3 at the carboxy-terminus protein-coding 1351272 RUSC2 RUN and SH3 domain containing 2 20029029,17081983,16344560,15796781,15489334,12477932,9205841,16169070,17137291 9853 NM_001135999,AL133476,CH471071,AB002373,AI818507,AK299805,BC029647,BC064843,BC082245,BC132766,BC132770,BC146654,NM_014806,BC150211,BC150262,BX647690,DA185385,DB458531 NP_055621,NP_001129471,CAH70650,EAW58377,BAA20830,BAG61680,AAH29647,AAH64843,AAH82245,AAI32767,AAI32771,AAI46655,AAI50263,Q8N2Y8 Hs.493796 Iporin|KIAA0375 RUN and SH3 domain-containing protein 2|interacting protein of Rab1|iporin protein-coding 68537 RUVBL1 RuvB-like 1 (E. coli) 1580863 18358808,18285460,18087039,17157868,17060327,16344560,16230350,15647280,15635413,15489334,15196461,14702039,14695187,14675489,14615539,14506706,12963728,12477932,11839798,11827452,11080158,11027681,10902922,10882073,10524211,10428817,9774387,9373149,9196036,8125298,1602151,16169070,11509179,17353931,15829968,18029348,20211142,16510874,19845771,15960975,16387653,17148452,17643375,17761535,18834951,19299493,19450687,19620283,19877184,10966108,9843967,9813143,9588198,14966270,19524533,19270026,19048121,18765919,18548265,18463163,20371770,20412048,20635389 8607 NM_003707,AC069419,AF380344,CH471052,AB012122,AB451224,AB451347,AF070735,AF099084,AJ010058,AK092163,AK222563,AK222575,AK312290,AW069473,BC002993,BC012886,BT007057,CR601126,DA530328,DQ469310,Y18418 NP_003698,AAM45570,EAW79323,BAA28169,BAG70038,BAG70161,AAC77819,AAD04427,CAA08986,BAG52489,BAD96283,BAD96295,BAG35217,AAH02993,AAH12886,AAP35706,ABF13334,CAB46271,Q9Y265,ABM82374,ABM85553 Hs.272822 ECP54|INO80H|NMP238|PONTIN|Pontin52|RVB1|TIH1|TIP49|TIP49A 49 kDa TATA box-binding protein-interacting protein|49 kDa TBP-interacting protein|54 kDa erythrocyte cytosolic protein|ECP-54|INO80 complex subunit H|NMP 238|OTTHUMP00000216128|RuvB (E coli homolog)-like 1|TAP54-alpha|TATA binding protein interacting protein 49 kDa|TIP60-associated protein 54-alpha|nuclear matrix protein 238|pontin 52|ruvB-like 1|ruvb-like protein 1 protein-coding 1315165 RUVBL2 RuvB-like 2 (E. coli) This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq] 1580863 20371770,10428817,10966108,10524211,14966270,11256614,19524533,19444951,19403135,19369355,19180575,18765919,18358808,17657734,17157868,16699503,16381901,16303743,16230350,16189514,16157330,15829968,15647280,15635413,15489336,15489334,15231747,15196461,14702039,14615539,12963728,12665801,12477932,11713276,11230166,11080158,11076863,10998447,10882073,10810093,12171929,16169070,20412048,20553504,20888340,11509179,11839798,17353931,15960975,16387653,17148452,17220478,17643375,19299493,19450687,19620283,19851296,19877184,20085707,20198315,20346530,20509972,20603076 10856 CR621656,CR622065,CR622876,CR625095,Y18417,NG_000019,AC008687,CH471177,CQ782490,AB024301,AF124607,AF151804,AF155138,AK027762,AK057498,AK074542,AK301344,AL136743,BC000428,BC004531,BC008355,CR533507,CR590196,CR590274,CR592274,CR592530,CR592825,CR596398,CR598127,CR602552,CR602932,CR607216,CR607731,CR607824,CR608075,CR610456,CR613453,CR614252,CR616279,CR619641,NM_006666 CAB46270,Q9Y230,CAL38511,ABM82318,ABM85494,NP_006657,EAW52426,EAW52427,EAW52428,EAW52429,EAW52430,EAW52431,CAF85776,BAA76708,AAF87087,AAD34041,AAD38073,BAG51374,BAG51921,BAC11048,BAG62892,CAB66677,AAH00428,AAH04531,AAH08355,CAG38538 Hs.515846 CGI-46|ECP51|INO80J|REPTIN|RVB2|TIH2|TIP48|TIP49B 48 kDa TATA box-binding protein-interacting protein|48 kDa TBP-interacting protein|51 kDa erythrocyte cytosolic protein|ECP-51|INO80 complex subunit J|Reptin52|RuvB (E coli homolog)-like 2|TAP54-beta|TBP-interacting protein, 48-KD|TIP60-associated protein 54-beta|erythrocyte cytosolic protein, 51-KD|repressing pontin 52|reptin 52|ruvB-like 2 protein-coding 1346086 RVNP2 retroviral sequences NP2 3600636 6255 M15971 protein-coding 732573 RWDD1 RWD domain containing 1 16189514,18978678,15489334,15146197,14574404,12477932,10810093,8889548 51389 NM_016104,NM_001007464,NM_015952,AL121953,CH471051,AF092134,AF132958,AI129713,AK290727,AK301089,BC008693,BC012534,BC015802,BQ001584,CA422968,CF128570,CN363729 NP_057188,NP_001007465,NP_057036,CAC14427,EAW48221,EAW48222,AAD40376,AAD27733,BAF83416,BAG62691,AAH15802,Q9H446,ABM83361,ABM83362,ABM83363,ABM86573 Hs.532164 CGI-24|PTD013 DRG family-regulatory protein 2|RWD domain-containing protein 1|small androgen receptor-interacting protein protein-coding 1343850 RWDD1L1 RWD domain containing 1-like 1 727789 NG_008052,AC093014 RWDD1L1 pseudo 1354057 RWDD1P1 RWD domain containing 1 pseudogene 1 404551 1314728 RWDD2A RWD domain containing 2A 15489334,14574404,12477932,7829101 112611 NM_033411,AL049699,CH471051,AK295724,AK302978,AK309249,AK313083,AW023870,BC010930,BC104816,BC112003,DC377982 NP_219479,CAB52345,EAW48665,EAW48666,BAG58565,BAG64121,BAG35909,AAH10930,AAI04817,AAI12004,Q9UIY3,ABM83592,ABM87092 Hs.709686 MGC13523|MGC138208|RWDD2|dJ747H23.2 RWD domain containing 2|RWD domain-containing protein 2A protein-coding 1312868 RWDD2B RWD domain containing 2B 16189514,15489334,14702039,12477932,10830953,10729227,9373149,8125298,16169070,17207965 10069 NM_016940,AF129075,AL163249,CH471079,AF212232,AK000056,AK223357,AL355726,AL355727,BC012546,BC017912,CR592518,CR607703,CR610226,Y19009 NP_058636,CAB90431,EAX09930,EAX09931,EAX09932,AAK14918,BAA90913,BAD97077,AAH12546,AAH17912,CAB88085,P57060,Q53FD2,ADQ32121 Hs.726496 C21orf6|GL011 RWD domain-containing protein 2B protein-coding 1314557 RWDD3 RWD domain containing 3 17956732,19407504,16710414,16381901,15489336,15489334,15146197,12477932,11230166,11076863,7566098 25950 NM_001128142,NM_015485,AC092802,CH471097,AA336253,AA825527,AK292665,AK292699,AL050062,BC010936,BC016307,BC065813,BC125142,BU858771,BX537497,BX648581,CN306675,CR533493,DC409838,AA336662,AK296476,NM_001199682,NR_037643 NP_001121614,NP_056300,EAW73019,EAW73020,EAW73021,EAW73022,EAW73023,BAF85354,BAF85388,CAB43254,AAI25143,CAG38524,Q9Y3V2,CAL37651,CAL38135,BAG59117,NP_001186611 Hs.709591 DKFZp566K023|FLJ51225|RSUME RWD domain-containing protein 3|RWD-containing sumoylation enhancer protein-coding 1605847 RWDD4A RWD domain containing 4A 16189514,15815621,15489334,14702039,12477932,9847074,17207965 201965 NM_152682,AC108477,CH471056,AK021702,AK293274,AK315515,BC017472,BC067752,BC107432,CR599273,CR606158,CR606628,CR610616,CR615824,CR626168,DB530118 NP_689895,EAX04688,BAG56803,BAG37896,AAH17472,AAH67752,AAI07433,Q6NW29,ADQ31973 Hs.133337 FAM28A|MGC10198|RWDD4A OTTHUMP00000218681|RWD domain containing 4A|RWD domain-containing protein 4A|family with sequence similarity 28, member A protein-coding 4144955 RWDD4P1 RWD domain containing 4 pseudogene 1 100419903 CH236947,AC004884,NG_026613 FAM28BP pseudo 4144515 RWDD4P2 RWD domain containing 4 pseudogene 2 9847074 647009 AC004987,AC093081,CH236951,NG_005562 AAQ96848 FAM28CP pseudo 1351067 RXFP1 relaxin/insulin-like family peptide receptor 1 1580863 20664520,19416162,19416161,19416160,19279230,19116340,18723073,18533687,18434306,18079195,17158203,17148455,16963451,16507880,16303766,16051677,15956719,15956698,15956688,15956684,15722441,15695505,15566402,15465925,15240635,14742692,14702039,14633277,12506116,12477932,11517286,10935549,11809971,19416223,19416222,19416214,19416186,19416177,19416175,14522968,15649866,19712722,12036966,20655530,19913121 59350 AK312470,AY899848,AY899849,AY899850,BC112142,BC113617,NM_021634,AC019341,AC107219,AC108017,AC121161,CH471056,AB208943,AF190500,AK122647,AK294694,AK295040,AK300379,AK307889,BC143556,BC143557,BC143558,BC143559,BX647975,BX647980,BX647985 AAX85196,AAX85197,AAX85198,AAI12143,NP_067647,AAY41039,EAX04856,EAX04857,BAD92180,AAG17167,BAG53639,BAG57853,BAG58092,BAG62114,ADR83250,AAI13618,Q4W5D9,Q59H16,Q9HBX9 Hs.591686 LGR7|LGR7.1|LGR7.10|LGR7.2|MGC138347|MGC142177|RXFPR1 OTTHUMP00000220567|leucine-rich repeat-containing G protein-coupled receptor 7|leucine-rich repeat-containing G-protein coupled receptor 7|leucine-rich repeat-containing g protein-coupled receptor 7|relaxin family peptide receptor 1|relaxin receptor 1 protein-coding 1319797 RXFP2 relaxin/insulin-like family peptide receptor 2 The receptors for glycoprotein hormones such as follicle-stimulating hormone (FSH; see MIM 136530) and thyroid-stimulating hormone (TSH; see MIM 188540) are G protein-coupled, 7-transmembrane receptors (GPCRs) with large N-terminal extracellular domains. Leucine-rich repeat (LRR)-containing GPCRs (LGRs) form a subgroup of the GPCR superfamily.[supplied by OMIM] 1580863,1600187 19416191,19416190,19416188,19416162,19416161,19279230,19017913,18772597,18434306,18073304,18063691,17473281,17437853,17028442,16963451,16926383,16867980,16507880,16051677,15956688,15708846,12036966,14656401,12970298,12506116,12217959,12114498,15579790,11809971,15649866,20636340 1600187 122042 NM_130806,AL138708,AL159161,CH471075,AF403384,AF453828,AY899851,NG_015819,NM_001166058 NP_570718,CAH73785,CAI17102,EAX08484,EAX08485,AAL69324,AAL73946,AAX85199,Q3KU23,Q8WXD0,AAI46280,AAI48730,NP_001159530 Hs.680763 GPR106|GREAT|INSL3R|LGR8|LGR8.1|RXFPR2 G protein coupled receptor affecting testicular descent|G-protein coupled receptor 106|G-protein coupled receptor affecting testicular descent|leucine-rich repeat-containing G protein-coupled receptor 8|leucine-rich repeat-containing G-protein coupled receptor 8|relaxin family peptide receptor 2|relaxin receptor 2 protein-coding 1352408 RXFP3 relaxin/insulin-like family peptide receptor 3 1580863 10806363,19152634,18582868,18434306,16507880,15956730,15956688,15489334,15465925,14522968,12477932,20159943,20211485,2834384 51289 NM_016568,AC139777,AY236541,CH471118,AY394501,BC095526,BC113438,BC113440,D88437 NP_057652,AAO92063,EAX10810,AAQ92315,AAH95526,AAI13439,AAI13441,BAA93001,Q502V2,Q9NSD7,ACE87340,ACE86658,ADR83197 Hs.170146 GPCR135|MGC141998|MGC142000|RLN3R1|RXFPR3|SALPR G-protein coupled receptor GPCR135|G-protein coupled receptor SALPR|RLN3 receptor 1|g protein-coupled receptor SALPR|relaxin 3 receptor 1|relaxin family peptide receptor 3|relaxin-3 receptor 1|somatostatin and angiotensin-like peptide receptor|somatostatin- and angiotensin-like peptide receptor protein-coding 1348831 RXFP4 relaxin/insulin-like family peptide receptor 4 GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 16710414,16507880,15956688,15525639,15489334,15465925,14623098,14530218,14522967,12477932,12044878,2834384,18577758,18582868 339403 NM_181885,AB065617,AB083593,AL355388,AX148192,CH471121,AY170824,AY288415,AY394502,BC101507,BC101509,DN693323,EU432129 NP_871001,BAC05844,BAB89306,CAH72626,EAW53020,AAO17676,AAP72124,AAQ92316,AAI01508,AAI01510,ABY87928,Q8TDU9 Hs.449914 GPCR142|GPR100|MGC126556|MGC126558|RLN3R2|RXFPR4 G protein-coupled receptor 100|G-protein coupled receptor 100|G-protein coupled receptor GPCR142|RLN3 receptor 2|insulin-like peptide INSL5 receptor|relaxin 3 receptor 2|relaxin family peptide receptor 4|relaxin-3 receptor 2 protein-coding 736929 RXRA retinoid X receptor, alpha Retinoid X receptors (RXRs) and retinoic acid receptors (RARs), are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors exert their action by binding, as homodimers or heterodimers, to specific sequences in the promoters of target genes and regulating their transcription. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. [provided by RefSeq] 1643104,1643105,1643109,1643108,1643114,1643115,1580863,1643106,1643107,2317461,2317465,2317466,2317462 19913121,20558521,20602615,20628086,10428834,12665583,12796488,12966085,14701856,15140878,15254248,15604093,16554032,16778766,17195188,19170196,19442374,19625176,19692168,19753122,19888660,19902255,19915048,19917671,19965660,20070029,20145122,20176747,20306291,20307661,20364085,20379614,7565739,17272748,17272513,17170071,17038419,17018855,17008383,16912044,16806672,16574651,16517099,16494845,16169070,15635645,15608692,15544927,15509776,15494375,15285879,15255287,15231748,15171703,15131121,15082790,15073272,15047147,15006913,14981089,14761960,14738865,14705796,14671211,12969790,12914524,12874288,12771132,12576329,12514092,12485829,12477932,12393611,12297106,12235159,12145331,12117567,12097375,12048211,12039952,11981034,11972046,11929748,11855864,11851396,11839661,11739747,11714715,11641790,11450851,11439184,11259580,11014615,10908304,10882139,10882070,10874028,10872826,10866662,10854698,10786636,10748178,10698945,10694476,10594021,10567404,10517671,10490654,10428836,17351148,17341859,10393239,10383413,10361124,10347167,10195690,10082530,10075655,9918848,9837884,9812988,9795230,9727070,9717844,7990953,12040021,1310260,1651173,12037571,17426122,18544046,17538076,19453261,19374686,19258929,19255064,19211732,19144697,19070893,19043829,18957410,18840407,18761406,18676680,18660489,18634911,18607089,18375961,18362166,18239067,18234786,18217139,18206668,18162523,18003614,17905826,17900311,17451432,17433303,8621574,12198243,10480874,10318855,10610177,12943985,14980220,9920895,15829977,18511497,20398753,16357103,21135166,9698548,9694878,9692544,9653119,9632676,9628876,9491782,9489701,9452433,9440806,9267036,9115274,9110174,9083083,9013544,8887632,8670810,8622986,8619474,8616895,8301142,8257089,8114692,8034312,8027277,7925381,7870181,7838715,7776974,7760929,7760852,7758108,7746322,7705655,7667283,7566127,7481822,2159111,1331778,1314167,1311101,1310351,11514567,9878542,9171239,9632709,9368056,10611353,12549917,12052862,14578865,11773444,11158331,19345331,20541701,20819778,20855565 1643104,1643105,1643109,1643108,1643114,1643115,1643106,1643107,2317461,2317465,2317466,2317462 6256 AC156789,AL354796,AL669970,AL683798,CH471090,DQ303444,AB307705,AF052092,AK090416,AK131081,AK131192,AK131513,BC007925,BC009882,BC031356,BC063827,BC096246,BC110998,CR593545,U66306,NM_002957,X52773,HI574244 NP_002948,CAH70571,EAW88122,EAW88123,EAW88124,EAW88125,ABB96254,BAH02296,BAC03397,BAC85131,BAG54745,AAH63827,AAI10999,AAC31116,CAA36982,O75798,P19793,Q6P3U7,Q6ZNL3,Q8NF63,ABZ92182,CBX47611 Hs.590886 FLJ00280|FLJ00318|FLJ16020|FLJ16733|MGC102720|NR2B1 nuclear receptor subfamily 2 group B member 1|retinoic acid receptor RXR-alpha|retinoid x receptor alpha protein-coding 735628 RXRB retinoid X receptor, beta This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). This receptor forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. The gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. An alternatively spliced transcript variant has been described, but its full length sequence has not been determined. [provided by RefSeq] 1580863 19913121,20587610,20628086,15604093,17195188,19170196,19453261,19625176,19692168,19811264,19851445,19888660,7990953,1662118,19255064,19223982,18676680,18660489,18375961,18217139,17916375,17389020,17341859,16189514,15635645,15608692,15589691,15489334,15207008,14985366,14574404,12549917,12514092,12477932,12403842,12175732,11840500,11839661,11782480,11278635,10611353,10594021,10187832,9727070,9627117,9373149,9267036,9150186,9013766,8889548,8670810,8381386,8257090,8034312,7758108,7705655,7556191,7481822,1514958,1331778,1315958,1310259,9626662,10965896,9346901,8125298 6257 AF065396,AF120161,AL031228,AL645940,AL662824,AL844527,CH471081,CR354565,CR759733,CR936877,AB209244,AK225842,AK295759,AK300402,AK301096,NM_021976,AK302125,BC001167,BM982876,BT007280,CR618812,M84820,X63522,X65463,X66424,NG_023374 NP_068811,AAC18599,AAD13794,CAA20239,CAI95622,CAI18064,CAI18066,CAI17612,CAI17614,CAI41836,CAI41837,EAX03679,CAQ11082,CAQ11083,CAQ10298,CAQ10299,CAQ09064,CAQ09065,BAD92481,BAH12180,BAH13278,BAH13409,BAH13631,AAH01167,AAP35944,AAA60293,CAA45087,CAA46456,P28702,Q06310,Q59G65,Q5JP92,Q5STP9,Q5STQ1 Hs.388034 DAUDI6|H-2RIIBP|MGC1831|NR2B2|RCoR-1 MHC class I promoter binding protein|nuclear receptor subfamily 2 group B member 2|retinoic acid receptor RXR-beta|retinoid x receptor beta protein-coding 733408 RXRG retinoid X receptor, gamma This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 20602615,20634891,8034312,19106195,19064610,18660489,18398047,18269685,17272748,17195188,16710414,16197915,16189514,16169070,15635645,15608692,15489334,15299084,15186611,12615696,12514092,12477932,12444914,12361685,12082103,11839661,11641790,11397877,9794455,9150186,9147069,9143002,8889548,8616895,8127707,7806300,1312497,1310259,8650544,11713274,20510503,11158331,15604093,15919723,16344560,17643375,19453261,19536175,19754311,20113835,20133701,20379614,21102462,20211142,20855565 6258 AL538345,BC012063,BM684530,BM728015,CR456705,CR596807,U38480,NM_006917,AL160058,CH471067,AB307706,AK125497,AK312922,BE349162,BX118484,DA251671,NR_033824 AAH12063,CAG32986,AAA80681,P48443,ACE87417,ACE86731,NP_008848,CAC00596,EAW90745,BAH02297,BAG35767 Hs.26550 NR2B3|RXRC nuclear receptor subfamily 2 group B member 3|retinoic acid receptor RXR-gamma|retinoid X receptor-gamma|retinoid x receptor gamma 2314796,2314802,2315765,2315816 GLUCO121_H,GLUCO118_H,GLUCO149_H,GLUCO177_H protein-coding 1316054 RYBP RING1 and YY1 binding protein 1580863 10369680,19098711,18551146,15489334,14765135,14691460,12477932,12411495,11953439,11395500,11171983,8943360,16189514,20881960,16943429,17070805,20379614 23429 AC104330,CH471055,AB029551,AF085840,AF179286,AF227959,AL049940,AY228125,BC014959,BC036459,CR626146,NM_012234,BF939411 ABM86336,NP_036366,EAW65515,EAW65516,EAW65517,BAA89486,AAD51858,AAK63197,AAO73587,AAH14959,AAH36459,Q8N488,ABM83140 Hs.7910 AAP1|DEDAF|YEAF1 APAP-1|DED-associated factor|RING1 and YY1-binding protein|YY1 and E4TF1 associated factor 1|YY1 and E4TF1-associated factor 1|apoptin-associating protein 1|death effector domain-associated factor|ring1 interactor RYBP protein-coding 1346179 RYK RYK receptor-like tyrosine kinase The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. Two alternative splice variants have been identified, encoding distinct isoforms. [provided by RefSeq] 1580863 20634891,19937600,20056645,8386829,8726462,17672918,16681403,15454084,15146197,12477932,11956217,10454588,8390040,8247543,7613029,2247464 6259 NM_001005861,NM_002958,AC096967,AC107310,AC108742,CH471052,AB209405,BC021700,BQ003586,CN309980,S59184,X69970,X96588 NP_001005861,NP_002949,EAW79155,BAD92642,AAH21700,AAB26341,CAA49591,CAA65406,P34925,Q59FQ5,Q8WTZ8,AAI48615,AAI53091 Hs.654562 D3S3195|JTK5|JTK5A|RYK1 JTK5A protein tyrosine kinase|OTTHUMP00000216375|hydroxyaryl-protein kinase|tyrosine-protein kinase RYK protein-coding 1348938 RYKP RYK receptor-like tyrosine kinase pseudogene 10066802,8386829,8247543,2247464 6260 NG_005810,AC087742 JTK5|JTK5B|RYKL1|RYKP pseudo 1316413 RYR1 ryanodine receptor 1 (skeletal) This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq] 1580863 19082546,19223216,19303294,19454545,19645060,19648156,19685112,19762757,19807743,19823671,19919814,19931341,20080650,20379614,20424473,20461000,12066726,12059893,12045220,11943213,11928716,11709545,11673493,11673462,11668625,11562475,11279144,11237759,11171121,10737800,10612851,10531621,10484775,10212196,10051009,10026226,9890886,9607712,9497245,9450902,9389851,9298970,9199552,9138151,9066328,8661021,8432525,8380342,8220423,8220422,8012359,7881417,7849712,7829078,7751854,7556644,1862346,1774074,1639409,1354642,14638677,7721813,11069905,9287354,12112081,9030597,7511586,19120137,11206130,2298749,19095005,1374404,19346234,19191333,19191329,19096717,19027160,19020143,18945287,18927079,18765655,18719443,18713863,18650434,18618700,18564801,18505726,18312400,18306019,18283481,18253926,18212565,18092949,17707769,17538032,17474147,17376685,17293538,17259277,17226826,17190947,17071618,17033962,16958053,16835904,16621918,16484216,16380615,16372898,16284304,16239337,16084090,15972723,15774471,15689621,15564033,15448513,15342556,15299003,15226293,15210166,15175001,15057824,15033925,14999498,14985404,14722100,14660561,14641996,14596927,14532276,14500992,12810060,12709444,12704193,12565913,12509428,12509414,12496092,12223488,12213830,12136074,12124989,20724266,20583297,19918671,20839240,20482855,20142353 6261 A20359,NM_000540,NM_001042723,NG_008866,AB066217,AB066218,AC005933,AC011469,AC067969,CH471126,M91455,S77392,S78717,U48508,AB209425,AF075460,AK293785,BI000785,BP231595,J05200 CAA01501,NP_000531,NP_001036188,BAB83891,BAB83892,AAC71651,AAF66076,EAW56795,EAW56796,EAW56797,EAW56798,AAA60295,AAB34356,AAB21245,AAC51191,BAD92662,AAC26798,BAG57198,AAA60294,O75591,P21817,Q59FN5,Q8WYM7,Q8WYM8 Hs.466664 CCO|MHS|MHS1|RYDR|RYR|SKRR RYR-1|central core disease of muscle|ryanodine receptor 1|ryanodine receptor type1|sarcoplasmic reticulum calcium release channel|skeletal muscle calcium release channel|skeletal muscle ryanodine receptor|skeletal muscle-type ryanodine receptor|type 1-like ryanodine receptor protein-coding 1317019 RYR2 ryanodine receptor 2 (cardiac) This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq] 1599247,1599251,1599243,1580863 19913121,20628086,17921453,10830164,19220289,15044459,19095005,19226252,19216760,18929323,18618700,18586264,17967164,17903301,17875969,17693412,17558603,17556193,17554300,17330843,17322175,17313373,17259277,17200109,17062961,17052226,16825580,16818210,16769042,16601229,16483256,16272262,16188589,15887426,15851612,15749201,15591045,15466642,15231748,15215235,15197150,15147738,15054223,15047862,15033925,15016728,14722100,14593104,14571276,12959641,12919952,12887973,12754204,12576471,12459180,12446682,12443530,12213830,12106942,12015469,11897558,11807805,11673493,11673462,11576544,11352932,11237759,11208676,11159936,11157710,10788707,10463072,10081705,9607712,9148749,8809036,8589694,8406504,7592856,2380170,20080988,20716843,15174051,18262818,19398665,19626040,19684603,19926015,20045464,20106799,20132818,20379614,20408814,20424473 1599247,1599251,1599243 6262 AJ002511,AK294792,AK297823,X91869,X98330,Y08218,NG_008799,AJ300340,AJ300429,AL356773,AL359924,AL365332,AL391809,AL442065,AL445473,AL513130,AL596133,NM_001035,CH471098 EAW70069,EAW70070,EAW70071,CAA05502,BAG57915,BAG60160,CAA62975,CAA66975,CAA69395,Q92736,NP_001026,CAC18855,CAH73918,CAI22065,CAH71369,CAI14440,CAI15350,CAH71393,CAI15936 Hs.109514 ARVC2|ARVD2|VTSIP OTTHUMP00000037535|RYR-2|cardiac muscle ryanodine receptor-calcium release channel|hRYR-2|ryanodine receptor 2 protein-coding 69015 RYR3 ryanodine receptor 3 Ryanodine receptors, such as RYR3, are intracellular calcium ion release channels responsible for the release of Ca(2+) from intracellular stores following transduction of many different extracellular stimuli.[supplied by OMIM] 1580863 19095005,19581603,20009918,20201926,20379614,20424473,9395096,12354756,19096130,18588595,14970260,14702039,14550562,12565913,12471029,12213830,11598113,11171121,10508160,9607712,9515741,9384575,8276408,7556644,7523185,1320290 6263 NM_001036,AC010809,AC011938,AC055874,AC067793,AC087638,CH471125,X74270,AB001025,AJ001515,AJ002512,X74269 NP_001027,EAW92276,EAW92277,EAW92278,EAW92279,EAW92280,CAA52327,BAA23795,CAA04798,CAA05503,CAA52326,Q15413 Hs.709373 RYR-3|brain ryanodine receptor-calcium release channel|brain-type ryanodine receptor|ryanodine receptor 3 protein-coding 1349517 S100A1 S100 calcium binding protein A1 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq] 1579977,1579960,1580863 20591429,7759097,7620916,4052452,3722149,1384693,12804600,10913138,1998503,18029348,14638689,19302533,19297317,19037854,18845991,18360353,18193148,17512776,17483815,17396138,17210106,16969478,16760135,16710414,16189514,16169012,15780567,15654019,15608682,15578088,15489334,15147519,12960148,12721284,12477932,12042313,11909974,11829317,11007787,10869553,10753920,10510252,9926943,9925766,9920416,9883272,9803314,9645951,9468301,9298970,8898862,8894274,8701470,8641565,8341667,20347987,20864512,12118070,15171681,19011512,19384190,19482672,19538970,19601998,19680475,19926575,20042890,21090249 1579977,1579960 6271 NM_006271,AL162258,CH471121,M65210,AB451316,AB451446,AK126904,AK312152,BC014392,BC035791,BC072006,BC094843,BT006938,X58079,GN341830 NP_006262,CAI19674,CAI19675,CAI19676,CAI19677,EAW53301,EAW53302,BAG70130,BAG70260,BAG35086,AAH14392,AAP35584,CAA41107,P23297,Q5T7Y4,Q5T7Y5,Q5T7Y6,CAY39334 Hs.515715 S100|S100-alpha|S100A S-100 protein alpha chain|S-100 protein subunit alpha|S100 alpha|S100 calcium-binding protein A1|S100 protein, alpha polypeptide|protein S100-A1 protein-coding 733247 S100A10 S100 calcium binding protein A10 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq] 17254974,19521263,19601998,19730683,20100475,9197417,1831433,18029348,18838110,18434302,18288090,17999956,17971878,17824845,17695432,17581860,17510952,17241856,16984913,16890384,16710414,16400147,16230353,15849182,15574370,15489334,15302870,15196694,13679511,12730231,12660155,12645529,12477932,12235365,12198146,12163506,11939791,11590242,11571284,10777578,10559334,9886297,9369453,9202034,9047302,9036930,8898866,8701470,8341667,8276421,7821789,7759097,2148288,1533380,1533123,1386341,16169070,11258932,20093721 6281 AL450992,CH471121,CQ878718,CQ891323,AK291073,BC015973,BC105786,BE378444,BI827113,BQ050753,CR542162,CR610742,NM_002966,D28387,M38591,M81457 NP_002957,CAI12164,EAW53397,EAW53398,EAW53399,CAH59521,CAH68677,BAF83762,AAH15973,AAI05787,CAG46959,BAA05753,AAA58426,AAA58404,P60903,Q6FGE5,ABM84481,ABM84482,ABM84483,ABM87802,ABM87803 Hs.143873 42C|ANX2L|ANX2LG|CAL1L|CLP11|Ca[1]|GP11|MGC111133|P11|p10 S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))|S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))|annexin II ligand, calpactin I, light polypeptide|calpactin I light chain|calpactin-1 light chain|cellular ligand of annexin II|protein S100-A10|s-100 related protein, clone 42c protein-coding 1323591 S100A11 S100 calcium binding protein A11 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq] 1580863 14623863,12704215,12645011,12477932,11873942,10673436,10913138,10851017,16130169,19048101,18694925,18618420,18523305,18463164,18385759,18340452,17978094,17932043,17624315,17537172,17476473,17000675,16964243,16710414,15701847,15489334,15322223,15302935,15241500,15138568,15051732,14962086,10486266,9287141,8985590,8557678,7889529,7759097,7490069,1286667,11258932,20347987,19577285,20379614,20372844 6282 NM_005620,AL591893,CH471121,AK312184,BC001410,BC014354,BT009912,CR594638,CR619623,D38583,D49355,D50374,X80201 NP_005611,CAH72895,EAW53392,BAG35117,AAH01410,AAH14354,AAP88914,BAA07597,BAA08354,BAA23325,CAA56492,P31949,ABM82672,ABM85851 Hs.417004 MLN70|S100C MLN 70|S100 calcium-binding protein A11 (calgizzarin)|calgizzarin|metastatic lymph node gene 70 protein|protein S100-A11|protein S100-C|s100 calcium binding protein a11 (calgizzarin) protein-coding 1352862 S100A11P S100 calcium binding protein A11 pseudogene 7887910 729659 NG_008400,AC004668,CH471070 EAW83322 S100A11P|S100A14 pseudo 3323318 S100A11P2 S100 calcium binding protein A11 pseudogene 2 12853948,9847074 347701 AC005826,AC006379,NG_002702 AAD21786 pseudo 3277804 S100A11P3 S100 calcium binding protein A11 pseudogene 3 645474 AP000867,NG_022983 pseudo 4890230 S100A11P4 S100 calcium binding protein A11 pseudogene 4 100506938 AC027667,NG_027989 pseudo 1352115 S100A12 S100 calcium binding protein A12 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. [provided by RefSeq] 1580863 15033494,19501594,19530996,19576587,19875725,20025991,20437698,20537326,20461025,10531386,7626002,11522286,8619876,18029348,19542470,19386136,19284577,18663285,18443896,18346834,18292089,18257809,18050248,17852869,17787039,17328050,17158877,16864903,16804393,16710414,16253391,15489334,15077313,12777802,12740341,12699958,12697438,12477932,12042313,11884210,11884208,11856825,11134923,10666601,10399917,8985590,8769108,8619860,7759097,12218151,20512925,19201044,21067798 6283 NM_005621,AL591704,CH471121,D83657,X98289,BC070294,D49549,D83664,X97859 ADR82637,NP_005612,CAI19495,EAW53332,BAA12030,CAB94792,AAH70294,BAA08497,BAA12036,CAA66453,P80511 Hs.19413 CAAF1|CAGC|CGRP|ENRAGE|MRP6|p6 EN-RAGE|S100 calcium-binding protein A12 (calgranulin C)|calcium-binding protein in amniotic fluid 1|calgranulin C|calgranulin-C|extracellular newly identified RAGE-binding protein|neutrophil S100 protein|protein S100-A12|s100 calcium binding protein a12 (calgranulin c) protein-coding 1312636 S100A13 S100 calcium binding protein A13 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 10051426,16145699,19284995,8878558,18259052,17374362,17077500,16773219,16710414,16341674,15821778,15635413,15489334,15033494,14702039,12746488,12645008,12477932,12135982,12118070,11432880,10722710,9712836,8985590,7759097,7566098,16169070,20208480,20863990 6284 NM_001024210,NM_005979,NM_001024211,NM_001024212,NM_001024213,AL162258,BX470102,CH471121,AA366085,AK097132,AY987392,BC000632,BC068064,BC070291,BM762088,BM913375,BT006724,BX472819,CK817939,CR542149,X99920 NP_001019381,NP_005970,NP_001019382,NP_001019383,NP_001019384,CAI14760,EAW53296,EAW53297,EAW53298,EAW53299,EAW53300,AAX89402,AAH00632,AAH68064,AAH70291,AAP35370,CAG46946,CAA68188,Q99584 Hs.516505 OTTHUMP00000034802|S100 calcium-binding protein A13|protein S100-A13 protein-coding 1344968 S100A14 S100 calcium binding protein A14 S100A14 is a member of a subfamily of proteins related by Ca(2+)-binding motifs to the EF-hand Ca(2+)-binding protein superfamily.[supplied by OMIM] 1580863 19351828,16710414,16189514,15489334,12477932,12477722,11944983,17207965,18029348,16682778,17620096,17625598,18606705,19601998,19956863 57402 BC005019,AF426828,BX470102,CS185562,NM_020672,AY007220 AAH05019,Q9HCY8,ADQ32442,CAJ42743,NP_065723,AAM19206,CAI14759,AAG01893 Hs.288998 BCMP84|S100A15 OTTHUMP00000032965|OTTHUMP00000032966|S100 calcium-binding protein A14|S114|breast cancer membrane protein 84|protein S100-A14 protein-coding 1315577 S100A16 S100 calcium binding protein A16 1580863 16710414,16189514,15635413,15489334,15302935,14684152,12477932,9417904,17030513 140576 NM_080388,AJ585980,BX470102,CH471121,AK290804,AY221961,AY762098,BC010541,BC019099,BC095462,U92985 NP_525127,CAE51865,CAI14758,EAW53303,EAW53304,BAF83493,AAP46152,AAW88319,AAH10541,AAH19099,AAH95462,Q96FQ6,ABM84516,ABM85865 Hs.515714 AAG13|DT1P1A7|MGC17528|S100F S100 calcium-binding protein A16|aging-associated gene 13 protein|aging-associated protein 13|protein S100-A16|protein S100-F protein-coding 1353498 S100A2 S100 calcium binding protein A2 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq] 1580863 20591429,20677014,15171681,19344608,19376121,19601998,19725154,1286667,20823519,9481475,15313892,19297317,19118029,18773213,18669640,18656279,18388131,17874182,17239974,17123307,17077493,17067748,17032501,16710414,16449968,16367903,16273244,16232198,16189514,16015083,15941720,15489334,15467767,14519656,12477932,12445212,11956617,11813862,11260185,10951287,10837826,10788426,10429967,9668057,9468301,9274623,9092943,8701470,8341667,7759097,1372446 6273 NM_005978,BX470102,CH471121,Y07755,AF086003,AW195797,BC002829,BC105787,BQ953250,M87068 NP_005969,CAI14756,CAI14757,EAW53305,CAA69033,AAH02829,AAI05788,P29034 Hs.516484 CAN19|MGC111539|S100L S100 calcium-binding protein A2|protein S100-A2 protein-coding 732253 S100A3 S100 calcium binding protein A3 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq] 1580863 17353931,18083705,16710414,15489334,12477932,12470658,12136135,12045193,10837826,9920417,9920416,9468301,9274623,8701470,8672544,8341667,7759097,7673133,19601998,20083228 6274 NM_002960,BX470102,CH471121,Z18950,BC012893,BT006955,CR542163,CR542185,Z18948 NP_002951,CAI14755,EAW53306,EAW53307,EAW53308,EAW53309,CAA79473,AAH12893,AAP35601,CAG46960,CAG46982,CAA79471,P33764,ABM82359,ABM85534 Hs.557609 S100E S100 calcium-binding protein A3|protein S100-A3 protein-coding 69040 S100A4 S100 calcium binding protein A4 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 16712791,20332215,20855150,20367639,8204608,14679171,18029348,19513503,19506550,19399660,19248116,19194111,19059703,19043399,19023966,19011242,18803290,18784356,18718015,18694925,18618724,18554396,18548584,18435928,18410126,18350635,18154362,17673926,17638890,17565747,17550972,17504119,17497677,17328050,17276942,17223348,17219414,17200116,17051636,17032501,16990429,18783790,16984379,16948116,16865243,16710414,16685438,16571622,16554030,16489073,16367903,16265347,16243835,16097057,15956747,15852272,15788416,15781852,15713996,15635413,15608682,15579771,15489334,15479433,15334597,15289939,15116098,14713104,14640694,14606958,14531065,12942774,12756252,12645008,12532418,12517790,12477932,12445462,12439718,12379109,12239456,12168821,12147716,11994292,11875708,11836260,11786397,11752788,11527429,11278647,11278510,10869553,10753920,9926943,9405067,8341667,8120097,7759097,7607566,3155863,1482346,1384693,1329089,16189514,16169070,15543138,20685652,20591429,20489045,20712050,12118070,15033494,15171681,17851788,18246798,19596927,19601998,19615802,19641515,19653048,19666596,19682073,19703228,19713532,19799859,19808905,19820999,19917604,19945782,19956863,20019188,20050020,20070253,20204297,20346360,20515499,20093727 6275 NG_027993,NM_019554,NM_002961,BX470102,CH471121,Z18950,Z33457,AK292083,AV735911,AY762982,BC000838,BC016300,BC024974,CB109749,CR450345,M80563 NP_062427,NP_002952,CAI14754,EAW53310,EAW53311,EAW53312,EAW53313,EAW53314,EAW53315,CAA79474,CAA83880,BAF84772,AAV74399,AAH00838,AAH16300,CAG29341,AAA51920,P26447,ABM83714,ABM87034 Hs.654444 18A2|42A|CAPL|FSP1|MTS1|P9KA|PEL98 S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)|S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)|calvasculin|fibroblast-specific protein-1|leukemia multidrug resistance associated protein|malignant transformation suppression 1|metastasin|placental calcium-binding protein|protein Mts1|protein S100-A4|s100 calcium-binding protein a4 protein-coding 1319090 S100A5 S100 calcium binding protein A5 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq] 1580863 12118070,19536568,19601998,19668339,16710414,12645008,12477932,11855835,11510959,10882717,9920416,8701470,8341667,7759097 6276 NM_002962,BX470102,CH471121,Z18949,Z18950,BC093955,BC093957,Z18954 NP_002953,CAI14753,EAW53316,EAW53317,CAA79472,CAA79475,AAH93955,AAH93957,CAA79479,P33763,Q52LE7 Hs.2960 S100D S100 calcium-binding protein A5|protein S100-A5 protein-coding 1354055 S100A6 S100 calcium binding protein A6 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq] 1580863 12118070,12805373,18029348,18765292,19062716,19542912,19601998,19712129,19724273,19834903,19888321,10913138,12577318,12152788,16130169,19297317,19048101,18803400,18753141,18714402,18669640,18620780,18612712,18201235,17726019,17721932,17495951,17466273,16710414,16288473,16278400,16157226,15878395,15489334,14584893,12859951,12746458,12601007,12477932,12239456,12042313,11937060,11925593,10037139,9925766,8701470,8341667,7759097,3755724,1384693,1299619,9578461,20629554,3036810,2775283,2448309,1999197,1482346,20591429,20596636,20581057 6277 NM_014624,AY034480,BX470102,CH471121,J02763,M14300,M18981,AK312088,BC001431,BC009017,BF726732,BT006965 NP_055439,AAK59702,CAI14752,EAW53318,EAW53319,EAW53320,EAW53321,EAW53322,EAW53323,EAW53324,EAW53325,EAW53326,AAA51905,AAA35886,AAA51906,BAG35024,AAH01431,AAH09017,AAP35611,P06703,ABM85861,ABW03747 Hs.275243 2A9|5B10|CABP|CACY|PRA MLN 4|OTTHUMP00000015473|S100 calcium-binding protein A6 (calcyclin)|calcyclin|growth factor-inducible protein 2A9|prolactin receptor-associated protein|protein S100-A6|s100 calcium binding protein a6 (calcyclin) protein-coding 1321093 S100A7 S100 calcium binding protein A7 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. This protein is markedly over-expressed in the skin lesions of psoriatic patients, but is excluded as a candidate gene for familial psoriasis susceptibility. The exact function of this protein is not known. [provided by RefSeq] 1580863 16799092,17625598,18029348,19249126,19601998,19810752,19844956,20101226,20226301,20689826,18373864,18320059,18263703,18223693,17986321,17560571,17418446,17159909,17136347,17033192,16675044,16236163,15717926,15615860,15489334,15201992,12923069,12704215,12702588,12664160,12477932,12032852,11258932,10737800,10331666,10191275,10190323,9562557,8701470,8618345,8526920,7759097,1286667,17353931,18606705,18588753,8077703,12421467,12839573,15217497,15568027,10026247,16357139,1940442,15740587,16082188,10595935,9693957,11782356,19162067,19159013,19079183,18754038,18634149,18625016,20628624 6278 AF050167,AJ012825,AL591704,BR000043,CH471121,AW238300,BC034687,BF090388,BX476368,CR542164,M86757,NM_002963 ABM85391,NP_002954,CAC20409,CAI19502,FAA00017,EAW53327,AAH34687,CAG46961,AAA60210,P31151,ABM82203 Hs.112408 PSOR1|S100A7c S100 calcium-binding protein A7 (psoriasin 1)|protein S100-A7|psoriasin 1|s100 calcium binding protein a7 (psoriasin 1) protein-coding 1346957 S100A7A S100 calcium binding protein A7A 1580863 18606705,17625598,16710414,16682778,12923069,12664160,12477932,11230159,1940442,17620096,18029348 338324 NM_176823,AL591704,AY189117,BR000043,CH471121,AJ243672,AJ243673,AY189118,AY189119,BC040254 NP_789793,CAI19499,AAO40032,FAA00014,EAW53328,EAW53329,AAO40033,AAO40034,Q86SG5,AAI48487,AAI53083 Hs.442337 NICE-2|S100A15|S100A7L1|S100A7f S100 calcium binding protein A15|S100 calcium binding protein A7-like 1|S100 calcium-binding protein A15|S100 calcium-binding protein A7-like 1|S100 calcium-binding protein A7A|protein S100-A7A|s100 calcium binding protein a7-like 1 protein-coding 1343763 S100A7L2 S100 calcium binding protein A7-like 2 16710414,12664160 645922 NM_001045479,AL591704,BR000043 NP_001038944,CAI19501,FAA00016,Q5SY68,AAI48519,AAI53116 Hs.647713 S100a7b S100 calcium-binding protein A7-like 2|protein S100-A7-like 2 protein-coding 1353559 S100A7P1 S100 calcium binding protein A7 pseudogene 1 12923069,12664160,1940442 127481 NG_009595,AL591704,BR000043 FAA00015,Q5M770 S100A7L3|s100a7d pseudo 2303473 S100A7P2 S100 calcium binding protein A7 pseudogene 2 12923069,12664160,1940442 375027 NG_009592,AL591704,BR000043 S100A7L4|s100a7e pseudo 1349531 S100A8 S100 calcium binding protein A8 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. [provided by RefSeq] 1580863,2316903,633930,2316912,2316906 19232095,19284577,19440546,19466434,19530996,19596235,19601998,19608587,19615732,19670424,19695969,19752232,19755614,19823685,19898558,19935772,20172281,19248102,19210342,19201880,19186948,19087201,19079333,18922970,18832721,18786929,18689872,18588753,18537548,18374411,18339893,18060880,18044712,18030206,17936757,17895549,17852869,17787039,17644317,17636430,17557234,17469085,17429438,17197440,17090475,17069562,17050004,16979015,16806487,16710414,16690079,16613612,16573830,16297907,16216873,16169070,16033829,15816004,15642721,15598812,15489334,15331440,15069705,13130482,12937135,12833525,12748257,12719414,12710851,12704215,12697438,12645005,12626582,12553726,12489193,12480428,12477932,12218151,12137245,11895856,11867565,11708798,11564187,11435486,11141076,11058579,10837826,10771424,10571075,9920411,8701470,8619876,8423249,8400238,8341667,7849642,7759097,3561500,3405210,3267695,2039599,1326551,1286667,20555353,20219570,2149559,17353931,3313057,20594128,21067798,20936779,20096140,20819668,19957061,20717964,20833513 2316903,633930,2316912,2316906 6279 NM_002964,A12027,AL591704,CH471121,M21005,AK291328,BC005928,BT007378,CR407674,X06234,Y00278,BU935536 NP_002955,CAA01001,CAI19497,EAW53330,EAW53331,AAA36327,BAF84017,AAH05928,AAP36042,CAG28602,CAA29580,CAA68390,P05109,ABM84421,ABM87366 Hs.416073 60B8AG|CAGA|CFAG|CGLA|CP-10|L1Ag|MA387|MIF|MRP8|NIF|P8 MRP-8|S100 calcium-binding protein A8 (calgranulin A)|calgranulin A|calgranulin-A|calprotectin L1L subunit|cystic fibrosis antigen|leukocyte L1 complex light chain|migration inhibitory factor-related protein 8|protein S100-A8|s100 calcium binding protein a8 (calgranulin a)|urinary stone protein band A protein-coding 1352981 S100A9 S100 calcium binding protein A9 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. [provided by RefSeq] 1580863,2316903,633930,2316906 19186948,19165585,19142861,19122197,19087201,19079333,19059406,18927283,18922970,18803290,18786929,18784990,18689872,18588753,18537548,18339893,18060880,18044712,18030206,17936757,17895549,17852869,17787039,17636430,17429438,17328050,17237603,17222807,17187679,17126494,17095618,17090475,17050004,16979015,16806487,11803621,11708798,11564187,11058579,10837826,10612291,10551823,10464253,9920411,9570563,8701470,8423249,8400238,8341667,7759097,3405210,2656677,2478889,1562590,1286667,20594128,20812987,20936779,20219570,20231196,2149559,17353931,17620599,3313057,18029348,19248102,19203362,19201880,16710414,16690079,16682612,16613612,16573830,16297907,16253391,16216873,16033829,15905572,15740587,15642721,15598812,15489334,15277376,15075348,15069705,15040889,14654085,13130482,12937135,12833525,12748257,12748056,12719414,12710851,12704215,12645005,12626582,12553726,12489193,12477932,12218151,12167632,12137245,11867565,11851337,20550547,20555353,21067798,16799092,19232095,19284577,19440546,19534726,19601998,19608587,19670424,19752232,19755614,19762566,19823685,19935772,20098622,20103766,20226301,20237496,20819668 2316903,633930,2316906 6280 NM_002965,A12029,A12031,A12032,AF237581,AF237582,AL591704,CH471121,M21064,AF086362,AK311882,BC047681,CR542207,CR542224,M26311,X06233 NP_002956,CAA01002,CAA01003,CAA01004,AAF62536,AAF62537,CAI19494,EAW53333,EAW53334,AAA36326,BAG34823,AAH47681,CAG47003,CAG47020,AAA68480,CAA29579,P06702 Hs.112405 60B8AG|CAGB|CFAG|CGLB|L1AG|LIAG|MAC387|MIF|MRP14|NIF|P14 MRP-14|S100 calcium-binding protein A9 (calgranulin B)|calgranulin B|calgranulin-B|calprotectin L1H subunit|leukocyte L1 complex heavy chain|migration inhibitory factor-related protein 14|protein S100-A9|s100 calcium binding protein a9 (calgranulin b) protein-coding 737117 S100B S100 calcium binding protein B The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq] 1580863 12477932,12470955,12469878,12377780,12351263,12042313,11969402,11888280,11809917,11527429,11312263,11264299,10876243,10830953,10510252,10399917,9925766,9923610,9883272,9774336,9335118,8894274,8750867,8701470,8341667,7759097,7566098,6487634,4031854,2964086,2833519,2530061,2394738,1998503,9519411,10913138,8202493,19497163,19330775,19297317,19229202,19221847,19216510,19205880,19202335,19183802,19147496,19103440,19086053,19042077,18982242,18948614,18939940,18854308,18805362,18783450,18706914,18614943,18596106,18587628,18552513,18494933,18454941,18451356,18445708,18385926,18384084,18337650,18193148,18181515,18173564,18039581,17984939,17984926,17984171,17955279,17726019,17719207,17705023,17678654,17661202,17660747,17624933,17579612,17536784,17525977,17408991,17396138,17348038,17264538,17199889,17091777,17043297,17023485,17020600,17010455,17008613,16931519,16511125,16340181,16143320,15820773,15781852,15708543,15670788,15556616,15489334,15306236,15257081,15236402,15178678,14997170,14967825,14699277,14675567,14661952,14642437,14530578,12927678,12746458,12645009,12636931,12630517,12569284,12527118,12505619,12493777,12490005,12480931,20473040,20036852,20036866,20614004,20708613,20581773,16189514,10394361,20587415,20591429,20559426,12118070,15033494,19011512,19220958,19307814,19468240,19482672,19487970,19505208,19539717,19558426,19636631,19654082,19671853,19674846,19705461,19812958,19910580,19939849,20042890,20105309,20237496,20351179,20398908,20437790,3111527,20509936,20592382,20093730,10531386,20604725,21070816,21079180 6285 AP000217,AP000339,AP001760,CH471079,M59488,AA310307,BC001766,BC041935,CR542123,EB386131,NM_006272 NP_006263,EAX09267,EAX09268,EAX09269,EAX09270,AAA60367,AAH01766,CAG46920,P04271,ABM83417,ABW03496 Hs.422181 NEF|S100|S100beta OTTHUMP00000174958|S-100 calcium-binding protein, beta chain|S-100 protein beta chain|S-100 protein subunit beta|S100 beta|S100 calcium binding protein, beta (neural)|S100 calcium-binding protein B|S100 calcium-binding protein, beta (neural)|protein S100-B|s100 protein, beta polypeptide protein-coding 1344914 S100G S100 calcium binding protein G This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq] 17712966,1610358,15772651,15489334,15217781,12477932,11076863,10417310,8308886,8045984,7817802,2009668,1379540,20214988 795 NM_004057,AL445467,CH471074,L13042,BC112174,L13220,X65869 NP_004048,CAI40084,EAW98916,AAA35637,AAI12175,AAA35638,CAA46699,P29377,AAI11918 Hs.639 CABP|CABP1|CABP9K|CALB3|MGC138379 S100 calcium-binding protein G|calbindin 3, (vitamin D-dependent calcium-binding protein)|calbindin D9K|calbindin-D9K|protein S100-G|vitamin D-dependent calcium-binding protein, intestinal protein-coding 1344746 S100P S100 calcium binding protein P The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq] 1580863 1633809,15632002,15313892,19092634,19073601,19796763,19018761,18725408,18575778,18452169,18162774,17875703,17539915,17486081,17448597,17000674,16189514,16061848,16047742,15489334,15213440,14716296,14672411,14617629,12808036,12746458,12507480,12477932,12042313,12021435,11747429,11127925,10924150,9784376,8701470,8341667,7759097,1540168,20382408,18029348,15171681,17587138,19111582,19885547,20153506,20198348 6286 AC093323,CH471131,AF539739,AI202505,NM_005980,AY423724,BC006819,BI259919,BT007289,X65614 NP_005971,EAW82384,AAO41114,AAS00487,AAH06819,AAP35953,CAA46566,P25815,Q5J7W2,ABM82014,ABM85196 Hs.2962 MIG9 S100 calcium-binding protein P|migration-inducing gene 9|protein S100-E|protein S100-P protein-coding 1604319 S100PBP S100P binding protein 15632002,18089492,14702039,12477932 64766 NM_022753,NM_001017406,AC114493,CH471059,AK022965,AK025811,AK090711,BC015175,BX647667,BX647916,CR611064,CR626594 NP_073590,NP_001017406,EAX07503,EAX07504,EAX07505,BAB14335,BAG52216,AAH15175,CAI46038,Q96BU1,ACE87523,ACE86836,ACE87833,ACE87834,ACT64357,ACT64361 Hs.440880 DKFZp313K2325|FLJ12903|S100PBPR OTTHUMP00000004047|S100P binding protein 1|S100P-binding protein protein-coding 1348648 S100Z S100 calcium binding protein Z Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM] 737633,1580863 15489334,12477932,11747429,19861958 737633 170591 NM_130772,AC027342,AC114962,CH471084,AF437876,BC022320,BX281742,CD368348 NP_570128,EAW95783,EAW95784,AAL30893,AAH22320,Q8WXG8 Hs.482563 Gm625|S100-zeta OTTHUMP00000222029|S100 calcium binding protein, zeta|S100 calcium-binding protein Z|protein S100-Z|s100 calcium binding protein, zeta protein-coding 1348454 S11 surface antigen (X-linked) 2 6267 1345821 S12 surface antigen (X-linked) 3 6268 1346165 S1PR1 sphingosine-1-phosphate receptor 1 The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. [provided by RefSeq] 1304283,1580863,1581747,1357201,1580913 9488656,9409733,8889548,2160972,18577758,20566754,18172456,17975119,17918267,17331465,17237497,16963454,16926156,16344560,16319133,16195373,16148028,15728452,15710622,15699128,15626732,14988150,14500646,12742228,12480944,12477932,12087059,12038970,11967277,11915348,11915345,11861422,11854302,11741892,11698050,11583630,11230698,11214319,8626678,19286607,19158154,19150609,19023099,18936953,18849324,18773427,18760838,18713968,18658144,18644866,18606817,18541717,18247041,11032855,10982820,10921915,10818441,10555146,10488065,10383399,9705355,20348395,19913121,20592280,20624651,20628086,19293149,19633297,19810093,19948975,20036214,20081804,20648639,20951945,2834384,20501673 1304283,1581747,1357201,1580913 1901 NM_001400,AL109741,AY011725,CH471097,AF022137,AF233365,AK297005,AK312493,BC018650,BI598518,BU677564,CF994197,CR541786,CR542269,CR977007,DB132417,DB572979,M31210,NG_016181 NP_001391,CAI21861,AAK01993,EAW72927,EAW72928,AAC51905,AAF43420,BAG59541,BAG35395,AAH18650,CAG46585,CAG47065,AAA52336,P21453,Q7L853 Hs.154210 CHEDG1|D1S3362|ECGF1|EDG-1|EDG1|FLJ58121|S1P1 S1P receptor 1|S1P receptor Edg-1|endothelial differentiation G-protein coupled receptor 1|endothelial differentiation, sphingolipid G-protein-coupled receptor, 1|sphingosine 1-phosphate receptor 1|sphingosine 1-phosphate receptor EDG1|sphingosine 1-phosphate receptor Edg-1 protein-coding 1343937 S1PR2 sphingosine-1-phosphate receptor 2 This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. This protein participates in sphingosine 1-phosphate-induced cell proliferation, survival, and transcriptional activation [provided by RefSeq] 68254,1580863 8087418,10617617,19139947,18922980,18765664,18658144,18612546,19903857,19948975,20194630,17431187,15764699,15489334,15208267,12648236,12477932,12445827,11967277,11915348,11331101,10908314,10818441,10488065,10383399,9988698,8878560,17710232,18088600,18577758 68254 9294 NM_004230,AC011511,AY262688,CH471106,AF034780,BC069598,BF513287,BG055846 NP_004221,AAP20652,EAW84081,EAW84082,AAC98919,AAH69598,O95136 Hs.655405 AGR16|EDG-5|EDG5|Gpcr13|H218|LPB2|S1P2 S1P receptor 2|S1P receptor EDG5|S1P receptor Edg-5|endothelial differentiation G-protein coupled receptor 5|endothelial differentiation, sphingolipid G-protein-coupled receptor, 5|sphingosine 1-phosphate receptor 2|sphingosine 1-phosphate receptor Edg-5 protein-coding 1352881 S1PR3 sphingosine-1-phosphate receptor 3 This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq] 632521,1580863 19913121,20628086,20648639,18577758,10555146,9409733,10617617,8649355,18658144,18612546,18502815,17395891,17331465,16527273,15894172,15489334,12763936,12648236,12477932,12039947,11915348,11854302,10908314,10818450,10818441,10818438,10794715,10712250,10683250,10537322,10488065,10383399,10216094,9988698,8878560,19309361,19633297,19748727,2834384 632521 1903 NM_005226,AL772202,AY322540,CH471089,X83864,AF022139,AK312798,AL832194,BC060827,BC069579 NP_005217,CAI16740,CAI16743,AAP84353,EAW62758,CAA58744,AAC51906,BAG35658,AAH60827,AAH69579,Q99500 Hs.585118 EDG-3|EDG3|FLJ37523|FLJ93220|LPB3|MGC71696|S1P3 G protein-coupled receptor, endothelial differentiation gene-3|S1P receptor 3|S1P receptor EDG3|S1P receptor Edg-3|endothelial differentiation G-protein coupled receptor 3|endothelial differentiation, sphingolipid G-protein-coupled receptor, 3|sphingosine 1-phosphate receptor 3|sphingosine 1-phosphate receptor Edg-3 protein-coding 1312457 S1PR4 sphingosine-1-phosphate receptor 4 This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq] 1580863 10679247,9790765,18713968,15489334,15298705,12767884,12761884,12648236,12477932,12401211,12270137,12115604,11919175,10753843,19293149,2834384,18577758,20686109 8698 NM_003775,AC011547,AY322537,CH471139,AJ000479,BC014970,CR590635,CR608611,CR610253 NP_003766,AAP84350,EAW69336,EAW69337,CAA04118,AAH14970,O95977 Hs.662006 EDG6|LPC1|S1P4|SLP4 S1P receptor 4|S1P receptor Edg-6|endothelial differentiation G-protein coupled receptor 6|endothelial differentiation, G protein coupled receptor 6|endothelial differentiation, G-protein-coupled receptor 6|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6|sphingosine 1-phosphate receptor 4|sphingosine 1-phosphate receptor Edg-6 protein-coding 733271 S1PR5 sphingosine-1-phosphate receptor 5 The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM] 632648,1580863 19211033,17918267,16303743,15530552,15489334,15057824,14702039,12648236,12477932,12427546,12234605,12044878,11705398,11331101,20950786,11069896,10799507,16344560,19474291,2834384,18577758 632648 53637 AB083602,AC011461,AF317676,AY262689,CH471106,CQ782630,AF088014,AF331840,AF331841,AF331842,AK074661,AK094880,BC034703,BC067781,CR619597,NM_030760,DA747912,DA866378,DB013424,NM_001166215 NP_110387,BAB89315,AAG38113,AAP20653,EAW84113,EAW84114,EAW84115,CAF85890,AAL57041,AAL57042,AAL57043,BAC11119,AAH34703,AAH67781,Q8WXV1,Q8WXV2,Q9H228,ABM82216,ABM84267,ABM85400,ABM87660,NP_001159687 Hs.501561 EDG8|Edg-8|S1P5|SPPR-1|SPPR-2 S1P receptor 5|S1P receptor Edg-8|endothelial differentiation G-protein-coupled receptor 8|endothelial differentiation, sphingolipid G-protein-coupled receptor, 8|sphingosine 1-phosphate receptor 5|sphingosine 1-phosphate receptor EDG8|sphingosine 1-phosphate receptor Edg-8 protein-coding 1344466 S7 surface antigen (chromosome 7) 2 6264 1317420 SAA1 serum amyloid A1 1580863 12011456,12456883,19007930,19171342,19549924,19726303,19729864,19755416,19758820,19833744,19850938,20184536,20237496,20435930,20713982,15489334,15225640,15188355,15170927,15161744,15018633,14871291,14738910,14696796,12973732,12762136,12762135,12687559,12606051,12477932,12410800,12077270,12056504,12031974,11946204,11592044,10753626,9305847,8995276,8783012,8512321,8188252,7851899,15561721,7655463,7115671,6155694,5056669,5055786,4816450,3839415,3800865,3442653,3183061,2890635,2595451,2017667,1971508,1656519,1546977,1259755,18299466,17968686,17849429,17806085,17676666,17552057,17461519,17329325,17237436,17039310,17039260,17015746,16864904,16737350,16651021,16236134,16219644,16155472,16152805,16120612,16118480,16011988,15972323,15910745,15729583,18322992,20502455,20061576,20877498,21124955,2834384,9892621,9815279,7561109,7636186,9823935,12557751,1697614,9252455,11830469,12857601,9605178,7516407,14718574,19167353,18768891,18726069,18695905,18571179,18566366,18385816,20463814,19913121,20628086,20677144,20022911,20177146,19453393,19922330,20979827,10531386 6288 BG565078,NG_021330,NM_001178006,NM_000331,NM_199161,AC107948,CH471064,CS081991,X56652,BC007022,BC105796,BG533276,BG567902,BQ691948,CD102084,CR542241,M10906,M23698,X51439,X51443,HC025774,HI519556 NP_001171477,NP_000322,NP_954630,EAW68408,EAW68409,EAW68410,EAW68411,CAI95959,CAA39974,AAH07022,AAI05797,CAG47037,AAA60297,AAA64799,CAA35804,CAA35808,P02735,Q15423,ABM83270,ABM83365,ABM86475,ABW03318,CBH19818,CBX54359 Hs.632144 MGC111216|PIG4|SAA|SAA2|TP53I4 serum amyloid A protein|tumor protein p53 inducible protein 4 protein-coding 1351382 SAA2 serum amyloid A2 1580863 11991719,19729864,20237496,20379614,17207965,18977241,18385816,17601350,16737350,16152805,15170927,14871291,14718574,12857601,12557751,12477932,12456883,12077270,11485914,10524285,9892621,9823935,9605178,9252455,8995276,8889548,8783012,8188252,8159722,8089807,7827140,7686132,7636186,7561109,7516407,3950541,3800865,3183061,2890635,1971508,1697614,1656519,9815279,19913121,20628086,20889312,20967262 6289 NM_030754,NM_001127380,AC090099,CH471064,J03474,L05921,X56653,AK307163,BC020795,BC058008,BU607521,M23699,M23700,M26152,X51440,X51441,X51442,X51444,X51445,CB241029 ADQ32164,CAA35810,NP_110381,NP_001120852,EAW68412,EAW68413,EAW68414,AAB59539,CAA39975,AAH20795,AAA64800,AAA64801,AAA85338,CAA35805,CAA35806,CAA35807,CAA35809 Hs.1955,Hs.679559 serum amyloid A2 protein-coding 1346983 SAA3P serum amyloid A3 pseudogene 1580863 14718574,12589816,8325654,2558975,1755958 6290 NR_026576,AC090099,S73444,X13895,AY209188 CAA32096,P22614 Hs.454496 SAA3 pseudo 1316532 SAA4 serum amyloid A4, constitutive 1579981,1580863 19913121,20536400,20628086,11752456,20967262,14718574,16335952,15489334,12477932,12410800,11256804,11169201,9815279,8995276,8889548,8783012,8325654,8188252,8159722,7775864,7686132,6411718,1740433,1439582,16189514,20855565,20237496,16712791 1579981 6291 AV699045,BG569210,NM_006512,AC090099,CH471064,S48983,AK312182,BC007026,BU685219,CB113387,CR541758,M81349 NP_006503,EAW68415,AAB24060,BAG35115,AAH07026,CAG46558,AAA60298,P35542 Hs.654493 C-SAA|CSAA constitutively expressed serum amyloid A protein|serum amyloid A-4 protein protein-coding 1352226 SAA@ serum amyloid A1 cluster 1550545 6287 1606985 SAAL1 serum amyloid A-like 1 19615732,15489334,12477932,16169070 113174 NM_138421,AC090099,CH471064,AK123457,BC012010,BU150462,CR590267,CR597687,CR601933,CR603614,CR616217,CR623466,CR624243,DR155913 NP_612430,EAW68418,EAW68419,BAG53907,AAH12010,Q96ER3 Hs.591998 FLJ41463 protein SAAL1 protein-coding 1607039 SAC3D1 SAC3 domain containing 1 18838617,16344560,16239144,15342556,15322101,15302935,12477932,9110174,8619474 29901 NM_013299,AP003068,CH471076,AU119957,BC007448,BP253859,CR607647,CR610152,CR614123,U79266 NP_037431,EAW74338,EAW74339,AAB50210,A6NKF1 Hs.23642 HSU79266|SHD1 SAC3 domain-containing protein 1|SAC3 homology domain-containing protein 1|Sac3 homology domain 1 protein-coding 733012 SACM1L SAC1 suppressor of actin mutations 1-like (yeast) 11256614,18480408,16381901,15489336,14527956,12805586,12477932,11352561,11230166,11214970,11076863,10887188,10048485 22908 NM_014016,AC098476,AJ289880,AJ297357,CH471055,AB020658,AK126434,AK291142,AK296421,AK301248,AL136831,BC016559,BC033581,CR749564,DC317560 NP_054735,CAB96871,CAB95945,EAW64744,EAW64745,EAW64746,BAA74874,BAG54329,BAF83831,BAG59083,BAG62815,CAB66765,AAH16559,CAH18361,Q68D59,Q9NTJ5,CAL37939 Hs.156509 DKFZp686A0231|KIAA0851|SAC1 OTTHUMP00000210311|phosphatidylinositide phosphatase SAC1|sac1 (supressor of actin mutations 1, homolog)-like (s. cerevisiae)|suppressor of actin 1|suppressor of actin mutations 1-like protein protein-coding 1316383 SACS spastic ataxia of Charlevoix-Saguenay (sacsin) This gene consists of nine exons including a gigantic exon spanning more than 12.8k bp. It encodes the sacsin protein, which includes a UBQ region at the N-terminus, a HEPN domain at the C-terminus and a DnaJ region upstream of the HEPN domain. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq] 1580863 14718707,10655055,18604465,18484239,18465152,18464913,18398442,17716690,17290461,16606928,16198375,15985586,15156359,15057823,14718708,14718706,14702039,12477932,11788093,10610707,9872452,20488193,20876471,16713569,19031088,19208651,19880797,19892370 26278 NM_014363,NG_012342,AF193556,AL157766,AL354815,CH471075,AB018273,AK024708,AK090599,AK125458,BC039418,BX640926,CR606941,CR749427 NP_055178,AAF31262,CAI13922,CAI13923,EAX08323,BAA34450,BAC03486,CAE45964,CAH18265,Q9NZJ4 Hs.159492 ARSACS|DKFZp686B15167|DNAJC29 OTTHUMP00000018109|dnaJ homolog subfamily C member 29|sacsin protein-coding 1604646 SAE1 SUMO1 activating enzyme subunit 1 17353931,16189514,11792325,15546615,10187858,9920803,16620772,16421094,16344560,15660128,15489334,15146197,14702039,12924945,12477932,11481243,11451954,11042152,10217437 10055 BC003611,BC018271,BC128518,BC128519,BT007290,CN386158,CR599343,CR611635,CR612586,CR622180,CR625745,DA047601,DA086973,DC297573,DC312737,NM_001145713,NM_001145714,NR_027280,AC008532,AC008755,CH471126,AF046025,AF090385,AF110956,AF161489,AI339364,AK021978,AK027595,AK055481,AK090645,AK302287,AK315624,BC000344,NM_005500 AAH03611,AAH18271,AAP35954,Q9UBE0,ABM82677,ABM85858,NP_005491,NP_001139185,NP_001139186,EAW57460,EAW57461,EAW57462,EAW57463,EAW57464,AAD23902,AAD12785,AAD24433,AAF29104,BAG51064,BAG51356,BAG63628,BAG37992,AAH00344 Hs.515500 AOS1|FLJ3091|HSPC140|SUA1|UBLE1A SUMO-1 activating enzyme E1 N subunit|SUMO-1 activating enzyme subunit 1|SUMO-activating enzyme subunit 1|activator of SUMO1|sentrin/SUMO-activating protein AOS1|ubiquitin-like 1-activating enzyme E1A|ubiquitin-like protein SUMO-1 activating enzyme protein-coding 733074 SAFB scaffold attachment factor B This gene encodes a DNA-binding protein that has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. This encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of the heat shock protein 27 transcription and also can act as an estrogen receptor corepressor. This gene is a candidate gene for breast tumorigenesis. [provided by RefSeq] 1580863 1324173,14667819,19077293,18772145,18154639,17643427,17081983,16964243,16475161,16326836,16195251,16169070,15302935,15066997,15057824,14702179,14702039,14587024,14559993,12890497,12837281,12660241,12477932,12403786,11784858,11509566,11207044,11118435,10933876,10809782,10707955,10212141,9671816,9605873,9328833,8600450,20562859,17643375,18029348,19106221,19615732,19674106,19901029,19137425 6294 NM_002967,AC004611,AC011499,AC134303,CH471139,AB208780,AK095736,AK290444,AK293152,AK294671,AK294718,AK295298,AK298707,AK299525,AK304474,AK307970,BC020309,BC032055,BC126219,BC143937,BC143938,BC143939,CR749251,L43631,U72355 NP_002958,AAC14667,EAW69161,EAW69162,EAW69163,EAW69164,BAD92017,BAF83133,BAH11463,BAH11842,BAH11859,BAH12027,BAH12852,BAH13059,BAH14195,AAI26220,AAI43938,AAI43939,AAI43940,CAH18107,AAC18697,AAC00056,A0AV56,Q15424,Q68DW3 Hs.23978 DKFZp779C1727|HAP|HET|SAF-B1|SAFB1 HSP27 ERE-TATA-binding protein|HSP27 estrogen response element-TATA box-binding protein|Hsp27 ERE-TATA binding protein|SAB-B1|SAF-B|glutathione S-transferase fusion protein|heat-shock protein (HSP27) estrogen response element and TATA box-binding protein|scaffold attachment factor B1 protein-coding 1342747 SAFB2 scaffold attachment factor B2 1580863 19674106,19901029,19137425,19077293,17081983,15489334,15345747,15302935,15057824,14702039,14587024,12660241,12477932,8590280,16169070,20562859 9667 NM_014649,AC004611,CH471139,AK123246,AK296552,AK300501,AW136754,BC001216,BC014784,BC025279,D50928,DB475007 NP_055464,AAC14666,EAW69165,BAG59175,BAG62215,AAH14784,AAH25279,BAA09487,Q14151 Hs.655392 KIAA0138 SAF-B2|scaffold attachment factor B2 protein-coding 736449 SAG S-antigen; retina and pineal gland (arrestin) Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq] 734491,1580863 20705733,2550422,7670478,18685727,18413662,18175313,17332750,17286855,15815621,15713799,15295660,15234147,15232620,12107411,10952973,9501883,9020843,8889548,8617782,7695743,7566098,3164688,2249983,1917988,1533347,1325454,20801516,12477932 734491 6295 NG_009116,AC013726,CH471063,M38064,U70962,U70976,AA317634,AK302211,BC144203,BQ636469,BQ636894,BQ639030,BQ639460,BU734369,BX491422,BX537502,BX537649,BX641043,BX647821,BX647827,DQ980619,DQ980620,X12453,NM_000541 NP_000532,AAY14861,EAW71041,EAW71042,EAW71043,EAW71044,EAW71045,AAP03721,AAC50992,BAH13651,CAD97766,CAE46025,ABJ97141,CAA30983,CAA30984,A0FDN6,P10523,Q6MZK5,Q7Z3R3,AAI56657 Hs.32721 DKFZp686D1084|DKFZp686I1383|RP47|S-AG 48 kDa protein|OTTHUMP00000203381|S-arrestin|arrestin 1|retinal S-antigen (48 KDa protein)|retinal s-antigen|rod photoreceptor arrestin protein-coding 1352077 SAGE1 sarcoma antigen 1 This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq] 18029348,16061876,12477932,10919659 55511 NM_018666,NG_012571,AL590618,AL953870,CH471150,AJ278111,AK310412,BC144260,BF056519,CD358947 NP_061136,CAI41374,EAW88486,CAB92443,AAI44261,Q9NXZ1 Hs.195292 CT14|SAGE cancer/testis antigen 14|putative tumor antigen|sarcoma antigen 1 protein-coding 1344330 SAI1 suppression of anchorage independence 1 6298 1320515 SALL1 sal-like 1 (Drosophila) The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599551,1599553 11511981,12395297,16971658,18024993,18297069,19247946,19440552,19942929,19005989,18470945,18280297,18000979,17910067,17426652,16670092,16545361,16443351,16429401,16344560,16221172,16088922,15342556,15158448,12477932,12200128,12065233,11836251,11751684,11484202,10965108,10928856,10533063,9973281,8975705,20548946,9425907,19213029,20634891 1599551,1599553 6299 NM_002968,NM_001127892,NG_007990,AC009166,AF017655,AF074949,CH471092,X98833,Y18264,AK295103,AK307835,BC113881,BC113906,BC131548,BP229682,DA318592,Y18265 NP_002959,NP_001121364,AAB99908,AAF19263,EAW82777,CAB41399,BAG58138,AAI13882,AAI13907,AAI31549,CAB41400,Q14CE9,Q9NSC2,AAI67772 Hs.135787 HSAL1|Sal-1|TBS|ZNF794 sal-like protein 1|spalt-like transcription factor 1|zinc finger protein 794|zinc finger protein SALL1|zinc finger protein Spalt-1 protein-coding 1350763 SALL1P sal-like 1 (Drosophila) pseudogene 10343095 139163 NG_009881,AC142496,AC142497,AJ010104,NG_026700 SALL1P pseudo 1345005 SALL2 sal-like 2 (Drosophila) 1580863 19131967,16545361,16189514,15082782,14702039,14507652,12477932,12168954,9205841,9110172,8975705,8889548,8188290,18655026,20634891,19247946 6297 BC136529,BI823697,BM698506,CR614081,X98834,BC136528,NM_005407,NG_001332,AE000521,AE000658,CH471078,AB002358,AF465630,AK001276,AK289358,AK293574,AK294051,AK296414,AK299931,BC024245,BC090958 AAI36530,Q8N656,Q9Y467,AAI36529,NP_005398,EAW66377,EAW66378,BAA21638,AAL74188,BAF82047,BAG57044,BAG57400,BAG59077,BAG61764,AAH24245,AAH90958 Hs.416358,Hs.724548 FLJ10414|FLJ55746|HSAL2|KIAA0360|Sal-2|ZNF795|p150(Sal2) sal-like protein 2|zinc finger protein 795|zinc finger protein SALL2|zinc finger protein Spalt-2 protein-coding 1321014 SALL3 sal-like 3 (Drosophila) 1580863 18668548,16545361,12477932,10610715,20634891,18029348,19139273,19247946 27164 AC214178,NM_171999,AC099689,AF347021,AJ007421,CH471117,BC148296 NP_741996,AAK18311,CAB65124,EAW66608,AAI48297,Q9BXA9 Hs.700557 ZNF796 C2H2 zinc finger protein SALL3|hSALL3|sal-like protein 3|spalt-like zinc finger protein|zinc finger protein 796|zinc finger protein SALL3 protein-coding 1351271 SALL4 sal-like 4 (Drosophila) The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). [provided by RefSeq] 1580863 19295406,19151334,18519826,18487508,18414659,18299846,17623483,17557835,17546590,17256792,16763212,16545361,16411190,16402211,16344560,16086360,15489334,15386473,15342710,15329836,15286162,14702039,12843316,12477932,12395297,12393809,19060217,19247946,19390421,19440552,19476507,19478329,19574883,19581335,19619907,19781444,19820689,20182341,20505821,20634891 57167 DB066881,NM_020436,NG_008000,AL034420,CH471077,AI638036,AK001666,AY170621,AY170622,AY172738,BC111714 AAI11715,Q6Y8G5,Q6Y8G6,Q9UJQ4,NP_065169,CAB61485,EAW75595,EAW75596,AAO16566,AAO16567,AAO44950 Hs.728059,Hs.517113 DRRS|HSAL4|MGC133050|ZNF797|dJ1112F19.1 sal-like protein 4|zinc finger protein 797|zinc finger protein SALL4 protein-coding 1343473 SAMD1 sterile alpha motif domain containing 1 16159594,12477932 90378 NM_138352,AC022098,CH471106,AY453840,BC007384,BC030129,BC065477,BC080588 NP_612361,EAW84396,AAR24087,AAH07384,AAH30129,AAH65477,AAH80588,Q6SPF0 Hs.140309 SAM domain containing 1|SAM domain-containing protein 1|atherin|sterile alpha motif domain-containing protein 1 protein-coding 1351691 SAMD10 sterile alpha motif domain containing 10 16341674,15489334,12477932,11780052 140700 AL118506,CH471077,AI866764,BC041436,BC067362,NM_080621,BM839907 NP_542188,CAC28315,CAI21905,EAW75180,EAW75181,AAH67362,Q9BYL1 Hs.27189 C20orf136|dJ591C20|dJ591C20.7 D930033N23Rik|SAM domain-containing protein 10|sterile alpha motif domain-containing protein 10 protein-coding 1353453 SAMD11 sterile alpha motif domain containing 11 737633 16710414,15489334,14702039,12477932,15146197 737633 148398 NM_152486,AL645608,CH471183,AK054643,BC024295,BC033213,BM055062,CN293867,CN342795 NP_689699,CAI15563,CAI15564,CAI15565,CAM12827,CAO03408,EAW56307,BAB70781,AAH24295,AAH33213,Q96NU1,Q9P0C3 Hs.335293 MGC45873 OTTHUMP00000038427|SAM domain-containing protein 11|sterile alpha motif domain-containing protein 11 protein-coding 1344782 SAMD12 sterile alpha motif domain containing 12 16344560,12477932,10737800,8889548,17568003,20379614 401474 NM_001101676,NM_207506,AC023590,AP003468,AP003476,AP003493,AP003496,CH471060,AK096777,AK311704,BC121818,BC124554,AP003494,BF326714,CB241290,DA335826,DA459013,DB228621,DB232393,EF212289 NP_001095146,NP_997389,EAW91974,BAC04861,AAI21819,AAI24555,Q8N8I0 Hs.359393,Hs.701196 FLJ39458|MGC148139|MGC148140 OTTHUMP00000203660|OTTHUMP00000203661|SAM domain-containing protein 12|sterile alpha motif domain-containing protein 12 protein-coding 1606448 SAMD13 sterile alpha motif domain containing 13 16710414,14702039,12477932 148418 NM_001010971,NM_001134663,NM_001134664,AL359273,CH471097,AK056937,BC037973,BF000472,CR615899,CR617905,DB459148 NP_001010971,NP_001128135,NP_001128136,CAH73121,CAH73122,CAH73123,EAW73241,EAW73242,EAW73243,BAG51830,EAW73240,Q5VXD3 Hs.591445 RP11-376N17.1 SAM domain-containing protein 13|dnaj-like protein (LOC148418)|sterile alpha motif domain-containing protein 13 protein-coding 1602057 SAMD14 sterile alpha motif domain containing 14 15489334,14702039,12477932,9373149,9110174,8619474 201191 NM_174920,AC002401,CH471109,AF035306,AK094209,AK095809,AK225767,AK291482,AY148482,BC029872,BC047081,BC136485,BC141822,BC142728,CR592493 NP_777580,EAW94640,EAW94641,BAG52844,BAG53135,AAN71008,AAH29872,AAH47081,AAI36486,AAI41823,AAI42729,Q86VX6,Q8IZD0,BAF84171 Hs.567769 FLJ36890 OTTHUMP00000220963|SAM domain-containing protein 14|sterile alpha motif domain-containing protein 14 protein-coding 1322660 SAMD3 sterile alpha motif domain containing 3 18391951,16344560,16189514,14702039,12477932,20602751,20978832 154075 NM_152552,AL355581,CH471051,AK091351,AK091882,AK302228,AK310075,BC029851,BC119757,NM_001017373,BC119758,BC127653,BC127654,CR619249,DA584636,DB509479 NP_001017373,NP_689765,CAI95326,CAI95327,CAI95328,EAW48069,EAW48070,BAC03644,BAC03765,BAG63582,AAH29851,AAI19758,AAI19759,Q4VXD9,Q4VXE0,Q8N6K7,AAI41507 Hs.440508 FLJ34563|MGC35163 OTTHUMP00000017193|SAM domain-containing protein 3|sterile alpha motif domain-containing protein 3 protein-coding 1321222 SAMD4A sterile alpha motif domain containing 4A Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM] 1580863 16221671,12477932,10470851,15324660,19913121,20628086,20379614 23034 NM_015589,NM_001161576,NM_001161577,AL133444,AL138994,AL359792,CH471061,AB028976,AF429970,AK024652,AK025923,AL117523,AW129053,BC011489,BC021060,BC021726,BC057838,BC121173,BC121174,BI825501,BX648198,AK074716 NP_056404,NP_001155048,NP_001155049,EAW80644,EAW80645,EAW80646,BAA83005,AAP97302,CAB55976,AAH21726,AAH57838,AAI21174,AAI21175,Q8WW19,Q9UFP6,Q9UPU9 Hs.98259 DKFZp434H0350|DKFZp686A1532|KIAA1053|SAMD4|SMG|SMGA|Smaug|Smaug1|hSmaug1 SAM domain-containing protein 4A|protein Smaug homolog 1|smaug 1|smaug homolog|sterile alpha motif domain containing 4|sterile alpha motif domain-containing protein 4A protein-coding 1605980 SAMD4B sterile alpha motif domain containing 4B 17353931,16964243,16221671,15489334,15324660,15302935,14702039,12477932,20510020,19913121,20628086 55095 NM_018028,AC005239,AC011445,CH471126,AK001073,AK091041,BC039652,BC054518,BC065211,BC080641,EF601121 NP_060498,EAW56875,EAW56876,EAW56877,EAW56878,EAW56879,BAA91493,AAH39652,AAH54518,AAH65211,AAH80641,ABQ85549,Q5PRF9,Q66K25,Q8IXP7,Q8N2G5,Q9NW90 Hs.612332 FLJ10211|MGC99832|SMGB|hSmaug2 SAM domain-containing protein 4B|protein Smaug homolog 2|smaug 2|smaug homolog B|sterile alpha motif domain-containing protein 4B protein-coding 1353343 SAMD5 sterile alpha motif domain containing 5 12477932,20041166 389432 NM_001030060,AL034350,AL354880,BC020896,BX642659,CB988162 NP_001025231,CAI23090,CAI18904,Q5TGI4 Hs.567973 dJ875H10.1 SAM domain containing 1|SAM domain-containing protein 5|sterile alpha motif domain-containing protein 5 protein-coding 1318984 SAMD7 sterile alpha motif domain containing 7 15489334,12477932 344658 NM_182610,AC008040,CH471052,BC117339,BX537903,BX648534,BX648989,BX648991,BC143909 NP_872416,EAW78534,AAI17340,CAD97889,Q7Z3H4,ADR83006 Hs.439922 DKFZp686E1583 SAM domain-containing protein 7|sterile alpha motif domain-containing protein 7 protein-coding 1315069 SAMD8 sterile alpha motif domain containing 8 1580863 14685263,15761153,14702039,12477932,16385451 142891 NM_144660,AL392111,CH471083,AK057811,BC080593,NM_001174156 NP_653261,CAI40906,CAI40908,CAI40909,EAW54565,EAW54566,EAW54567,EAW54568,BAB71586,AAH80593,Q5JSC9,Q96LT4,AAI40220,AAI46557,NP_001167627 Hs.727615 FLJ25082|SMSr OTTHUMP00000019874|SAM domain-containing protein 8|sphingomyelin synthase related|sphingomyelin synthase-related protein 1|sterile alpha motif domain-containing protein 8 protein-coding 1352885 SAMD9 sterile alpha motif domain containing 9 18094730,17507861,17407603,16960814,15489334,14702039,12853948,12690205,12477932,9847074,9373149,8125298,19830690 54809 AA628487,NG_023419,NM_001193307,NM_017654,AC000119,CH236949,CH471091,AB095925,AF445355,AF453311,AK000080,AK122951,AK125101,AK125131,AK225201,BC065769,BC132773,BC132775,BC150249,BG615970,BX647072 NP_001180236,NP_060124,AAQ96842,EAL24145,EAW76826,BAC23101,AAQ04637,AAQ04689,BAA90932,BAG54143,BAG54150,AAH65769,AAI32774,AAI32776,AAI50250,Q5K651 Hs.65641,Hs.727241 C7orf5|DRIF1|FLJ20073|KIAA2004|NFTC|OEF1|OEF2 OTTHUMP00000208701|SAM domain-containing protein 9|expressed in aggressive fibromatosis|sterile alpha motif domain-containing protein 9 protein-coding 1353410 SAMD9L sterile alpha motif domain containing 9-like 17407603,14702039,12690205,12477932 219285 AY195587,AY195588,BC029108,BC038974,BC127117,BC127118,DQ068177,W19045,AC000119,CH236949,CH471091,AB095926,AF474973,AK026672,AK097204,AK304307,AK304779,AL832264,AL834232,AY195582,AY195583,AY195584,AY195585,AY195586,NM_152703 AAP57714,AAH29108,AAH38974,AAI27118,AAI27119,AAY98793,Q8IVG5,NP_689916,EAL24144,EAW76824,EAW76825,BAC23102,AAQ05771,BAC04975,BAG65160,BAG65533,CAD38910,AAP57709,AAP57710,AAP57711,AAP57712,AAP57713 Hs.489118 C7orf6|DRIF2|FLJ39885|KIAA2005|UEF1 OTTHUMP00000208675|OTTHUMP00000208676|OTTHUMP00000208677|OTTHUMP00000208678|OTTHUMP00000208679|OTTHUMP00000208680|SAM domain-containing protein 9-like|chromosome 7 open reading frame 6|sterile alpha motif domain-containing protein 9-like protein-coding 1318099 SAMHD1 SAM domain and HD domain 1 1580863 20842748,20358604,19525956,11064105,18546154,17081983,14702039,12107410,11780052,11256614,11230166,12477932,16344560,20237496,20156774 25939 NM_015474,AL079335,AL365505,CH471077,AB013847,AB208944,AF228421,AK027811,AK304187,AK304795,AK311150,AK315169,AL050267,BC036450,CA392465,CR614403,DA351335,NG_017059 NP_056289,CAI42293,CAI95179,EAW76090,EAW76091,BAB18916,BAD92181,BAB55386,BAG65067,BAG65545,CAB43368,AAH36450,Q59H15,Q9Y3Z3,AAF32407 Hs.580681 AGS5|DCIP|HDDC1|MOP-5|SBBI88 SAM domain and HD domain-containing protein 1|dendritic cell-derived IFNG-induced protein|monocyte protein 5 protein-coding 1604035 SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae) SAMM50 is a component of the sorting and assembly machinery (SAM) complex of the outer mitochondrial membrane. The SAM complex has a role in integrating beta-barrel proteins into the outer mitochondrial membrane (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM] 15644312,18940312,17624330,17510655,16344560,16189514,15489334,15461802,14702039,10810093,10591208,9373149,8125298,18029348,20877624,12477932,19913121,20628086,20379614 25813 NM_015380,AL035398,CH471138,AF151809,AK001087,AK091282,AK093144,AK097015,AK124895,AK222657,AK297770,AK312773,AY189688,BC007830,BC011681,BC015200,CR456483,CR593096,CR608779,CR609254,CR611110,CR614301,CR614311,CR617275,CR621217,CR621234,CR624790,CR625665,DB030637 NP_056195,CAB51401,EAW73326,AAD34046,BAA91498,BAG53408,BAD96377,BAG60116,AAO85221,AAH07830,AAH11681,AAH15200,CAG30369,Q9Y512,CAK54464,CAK54763,ABM84050,ABM87400 Hs.505824 CGI-51|FLJ35825|FLJ42905|FLJ99036|OMP85|SAM50|TOB55|TRG-3|YNL026W sorting and assembly machinery 50kDa|sorting and assembly machinery component 50 homolog|transformation-related gene 3 protein|transformation-related protein 3 protein-coding 1348552 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM] 1580863 20478393,15381729,18523997,15489334,12909339,12477932,11536050,10830953,19807924,20379614 64092 NM_022136,AF165138,AL163206,CH471079,AF218085,AF222927,AF519621,AI815031,AK125144,BC029112 NP_071419,CAB90391,EAX10053,EAX10054,AAK07746,AAG23355,AAM75349,BAG54155,AAH29112,Q9NSI8 Hs.473341,Hs.719474 HACS1|NASH1|SASH2|SH3D6B OTTHUMP00000083033|SAM and SH3 domain containing 2|SAM domain, SH3 domain and nuclear localisation signals, 1|SAM domain, SH3 domain and nuclear localization signals protein 1|SAM domain-containing protein SAMSN-1|SH3-SAM adaptor protein|hematopoietic adaptor containing SH3 and SAM domains 1|nuclear localization signals, SAM and SH3 domain containing 1 protein-coding 1606502 SAP130 Sin3A-associated protein, 130kDa SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM] 16387653,20379614,11230166,11076863,18173839,11406595,12660246,11564863,19088080,16381901,15815621,15489336,15489334,15231748,14702039,12724404,12477932,11256614 79595 NM_024545,NM_001145928,AC012306,AC118060,CH471103,AK022823,AK055979,AK092234,AK315185,AL136833,AY220791,BC017453,BC117255,BC143898,CR610925,DB509348 NP_078821,NP_001139400,AAY14878,AAX88975,EAW95350,EAW95351,EAW95352,EAW95353,EAW95354,EAW95355,BAB14261,BAB71063,BAG52501,CAB66767,AAO63591,AAH17453,AAI17256,AAI43899,Q96DP1,Q9H0E3,CAL37428,CAL38106 Hs.32995 FLJ12761 130 kDa Sin3-associated polypeptide|OTTHUMP00000162313|Sin3-associated polypeptide p130|histone deacetylase complex subunit SAP130|mSin3A-associated protein 130 protein-coding 1321265 SAP18 Sin3A-associated protein, 18kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq] 1580863 20966198,9150135,17353931,17002296,16537548,16344560,16169070,15635413,15489334,15057823,12665594,12477932,10357820,9651585,14611647,11960000,11872158,19503603,19615732,18029348 10284 AL158032,CH471075,AF153608,AK311748,AY550970,BC030836,BU618473,CR457035,CR590892,CR592416,CR608964,CR621103,CR622577,NM_005870,CR623915,CR624098,CR624201,CR625423,DB171768,U78303,U96915 NP_005861,CAH69949,EAX08291,AAD41090,BAG34691,AAT52216,AAH30836,CAG33316,AAF21220,AAC51322,O00422,ABZ92289 Hs.524899 2HOR0202|MGC27131|SAP18P 18 kDa Sin3-associated polypeptide|OTTHUMP00000211540|cell growth inhibiting protein 38|cell growth-inhibiting gene 38 protein|cell growth-inhibiting protein 38|histone deacetlyase complex subunit SAP18|histone deacetylase complex subunit SAP18|sin3-associated polypeptide p18|sin3-associated polypeptide, 18 kDa|sin3-associated polypeptide, p18 protein-coding 1354225 SAP30 Sin3A-associated protein, 30kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq] 1580863 9651585,9874765,12670868,19015240,17897615,17672918,17081983,15489334,15451426,15302935,15235594,15005689,12788099,12477932,12124384,11784859,11118440,11102443,11013263,10444591,10441327,9804427,9790534,9702189,9150135,7889570,12724404,11390640,11101889,11000236,15496587,16387653,20478393 8819 NM_003864,AC097534,CH471056,AF055993,AW236579,BC016757 NP_003855,EAX04755,EAX04756,AAC33316,AAH16757,ABM83754,O75446 Hs.591715 30 kDa Sin3-associated polypeptide|Sin3 corepressor complex subunit SAP30|Sin3-associated polypeptide, 30kDa|histone deacetylase complex subunit SAP30|sin3-associated polypeptide p30|sin3-associated polypeptide, 30 kDa protein-coding 1602722 SAP30BP SAP30 binding protein 17643375,18255255,9651585,16189514,15496587,15489334,14702039,12477932,10931946,16169070,20532202 29115 AC087749,CH471099,AF087869,AF119664,AF450482,AK002202,AK023157,AK095265,AK298060,AK310177,AL049465,AY082382,BC007592,BC011724,NM_013260,BC013409,BC030233,BC063793,BX647066,CR611306,CR618344,CR621811 NP_037392,EAW89298,EAW89299,EAW89300,EAW89301,EAW89302,EAW89303,EAW89304,AAM10497,AAF17221,AAL47177,BAG51029,BAC04514,BAH12715,CAH56422,AAL92491,AAH07592,AAH13409,AAH30233,AAH63793,Q659G6,Q9UHR5,ABZ92322 Hs.655088 DKFZp586L2022|HCNGP|HTRG|HTRP HSV-1 binding|SAP30-binding protein|transcriptional regulator protein HCNGP protein-coding 1606218 SAP30L SAP30-like 19015240,18070604,16484223,15302935,14702039,14680513,12477932,10843801,20588308,16820529,21076409 79685 NR_024084,NM_024632,NM_001131062,NM_001131063,AC008625,AC026688,CH471062,AF085957,AF157115,AF157116,AI144341,AI199517,AI436556,AK021588,AK027248,AK093816,AW874393,AY341060,AY846876,BC009829,AL833381 NP_078908,NP_001124534,NP_001124535,EAW61637,BAB13848,AAQ16562,AAX54477,AAH09829,Q9HAJ7 Hs.592566 DKFZp667L2214|FLJ11526|FLJ23595|FLJ36497|NS4ATP2 HCV non-structural protein 4A-transactivated protein 2|Sin3A associated protein p30-like|histone deacetylase complex subunit SAP30L|sin3 corepressor complex subunit SAP30L|sin3-associated protein p30-like protein-coding 1322857 SAPS1 SAPS domain family, member 1 Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM] 16769727,18186651,16716191,15489334,14743216,12477932,10470851,19615732,19621075 22870 NM_014931,AC010327,AC116342,CH471135,AB029038,AK126810,AK297152,AL544921,BC002799,BC007629,BC068014,BC094753,BC111980,BC113443,BG772019,BX362839 NP_055746,EAW72352,EAW72353,EAW72354,BAA83067,BAG59651,AAH02799,AAH07629,AAH68014,AAH94753,Q96ID3,Q9UPN7 Hs.515610 KIAA1115|MGC138185|MGC142003|PP6R1|SAP190|SAPS1 SAPS domain family, member 1|serine/threonine-protein phosphatase 6 regulatory subunit 1 protein-coding 1347490 SAPS2 SAPS domain family, member 2 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM] 1580863 16713569,14743216,14702039,12477932,10591208,9734811,18029348,16769727,18186651,19596235,19615732,19621075 9701 AL096767,AL671545,AL954743,BX545851,CH471138,AA743798,AB014585,AK002063,AK022669,NM_014678,AK024148,AK097210,AK302472,BC000976,BC006568,BC022346,BC032664,BC041698,BC052995 NP_055493,CAO03456,CAO03457,CAO03458,CAO03459,CAO03642,CAO03643,CAO03644,CAO03645,CAO03561,CAO03562,CAO03563,CAO03564,EAW73530,EAW73531,EAW73532,EAW73533,EAW73534,BAA31660,BAG51009,BAG51102,BAH13719,AAH00976,AAH06568,AAH32664,AAH41698,AAH52995,O75170 Hs.589924,Hs.449098 KIAA0685|PP6R2|SAP190|SAPS2|dJ579N16.1 OTTHUMP00000196592|OTTHUMP00000196594|SAPS domain family, member 2|serine/threonine-protein phosphatase 6 regulatory subunit 2 protein-coding 1316164 SAPS3 SAPS domain family, member 3 Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM] 16716191,17081983,16964243,16769727,15489334,15345747,15324660,15302935,14702039,12477932,11401438,10997877,15342556,16344560,17761849,18186651,19615732,19621075,15146197 55291 AP000807,AP001788,AP003096,CH471076,AB046778,AF264779,AF264780,AK001920,AK023950,AK057250,NM_018312,AK298180,AK300359,AK302611,AK303315,AK315136,AL389982,AL834471,BC007738,BC020953,BC070121,BC105933,BC105934,BC107599,CN351527,CR593310,CR604147,CR749815,CR933658,AK125055,CR936718,DQ111954,BP314824,DB207620,NM_001164160,NM_001164161,NM_001164162,NM_001164163,NM_001164164 NP_060782,EAW74707,EAW74708,EAW74709,EAW74710,EAW74711,EAW74712,BAB13384,AAG36934,AAG36935,BAA91978,BAB14737,BAB71396,BAG60451,BAG62099,BAG63858,BAG64384,CAB97537,CAD39130,AAH07738,AAH20953,AAI05934,AAI05935,AAI07600,CAH18675,CAI45957,AAZ99639,Q5H9R7,Q9H880,Q9NPQ7,NP_001157632,NP_001157633,NP_001157634,NP_001157635,NP_001157636 Hs.503022 C11orf23|DKFZp781E17107|DKFZp781E2374|DKFZp781O2362|FLJ11058|FLJ43065|KIAA1558|MGC125711|MGC125712|PP6R3|SAP190|SAPL|SAPLa|SAPS3 SAPS domain family, member 3|chromosome 11 open reading frame 23|protein phosphatase 6 regulatory subunit 3|serine/threonine-protein phosphatase 6 regulatory subunit 3|sporulation-induced transcript 4-associated protein SAPL protein-coding 1350460 SAR1A SAR1 homolog A (S. cerevisiae) 1580863 20634891,18318767,17981133,17207965,17373700,16713569,16344560,15489334,12692552,12477932,11230166,10871277,15580264,20624903,20457124,16385451,18029348,19135528,19357197 56681 AF318066,AK025857,AK298591,AK312469,AL136724,AW128933,AY008268,BC003658,BG327663,CR533492,CR600689,DB216796,DR763562,EB388518,NM_001142648,AL731540,CH471083,CQ859742,AF086166,AF087897,AF217959,AF261717,AF274026,NM_020150 AAL27183,BAG60781,BAG35376,CAB66658,AAG16638,AAH03658,CAG38523,Q5SQT8,Q5SQT9,Q6FID4,Q8NG23,Q9NR31,ACE87413,ACE86727,NP_064535,NP_001136120,CAI13687,CAI13688,CAI13689,EAW54378,EAW54379,EAW54380,EAW54381,CAH25921,AAP97196,AAQ13891,AAF81741,AAM69363,ADQ33170 Hs.499960,Hs.594910 SAR1|SARA1|Sara|masra2 COPII-associated small GTPase|GTP-binding protein SAR1a|OTTHUMP00000019744|OTTHUMP00000019746|OTTHUMP00000019748|SAR1 gene homolog A|SAR1 gene homolog A (S. cerevisiae)|SAR1a gene homolog 1|sar1a gene homolog 1 (s. cerevisiae) protein-coding 2799526 SAR1AP4 SAR1 homolog A (S. cerevisiae) pseudogene 4 100132322 AL451105,NG_016180 pseudo 1313710 SAR1B SAR1 homolog B (S. cerevisiae) 1580863 11252894,11031247,18786134,17945526,15943909,15489334,14702039,12692552,12477932,10665502,9373149,8125298,12450215,18029348,19846172 51128 NM_016103,NM_001033503,AC106763,CH471062,CQ816569,AF087850,AF092130,AK056821,AK223452,AL512710,AL710660,BC002847,BC093034,BM765118,CR601141,CR618571,CR618910,CD048852,NG_017002 NP_057187,NP_001028675,EAW62249,EAW62250,CAG32967,AAP97161,AAD40372,BAG51815,BAD97172,CAC21652,AAH02847,AAH93034,Q53F37,Q9H029,Q9Y6B6,ACE87671,ACE86982 Hs.432984 ANDD|CMRD|GTBPB|SARA2 2310075M17Rik|GTP-binding protein B|GTP-binding protein SAR1b|GTP-binding protein Sara|OTTHUMP00000159376|OTTHUMP00000223099|OTTHUMP00000223100|OTTHUMP00000223101|OTTHUMP00000223103|OTTHUMP00000223104|OTTHUMP00000223105|SAR1 gene homolog B (S. cerevisiae)|SAR1a gene homolog 2|sar1a gene homolog 2 (s. cerevisiae) protein-coding 1352062 SAR1P1 SAR1 homolog (S. cerevisiae) pseudogene 1 646260 NG_009576,AL035402,AL662791,AL662852,AL929561,BX248413,CR388407,CR547123,CR933783 SAR1P1|SARAP|SARAP1|dJ88J8.3|hsSARA-p pseudo 2303334 SAR1P2 SAR1 homolog (S. cerevisiae) pseudogene 2 641312 NG_009478,AC026226 SAR1P2|SARA1P pseudo 1602814 SAR1P3 SAR1 homolog (S. cerevisiae) pseudogene 3 9847074 344988 NG_009719,AC073475 SAR1P3 pseudo 735740 SARDH sarcosine dehydrogenase This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq] 634034,1580863 19161160,16344560,14702039,12477932,10686491,10444331,9839943,9373149,8125298,2447942,2417560,20877624 634034 1757 NM_001134707,NG_008987,AF140745,AL365494,AL590710,CH471090,AF047004,AF047190,AF095735,NM_007101,AF095736,AF095737,AF129265,AF162428,AJ223317,AK093794,AK223402,AK291211,AK298348,AK316494,BC033217,BC041574,BC136363,BC136364,BC144035,CR593278,CR597974,CR602119,DB184618 AAD53398,NP_009032,NP_001128179,AAD32214,CAI13356,CAI12275,CAI12276,CAI12277,EAW88101,EAW88102,EAW88103,EAW88104,AAD13136,AAD13137,AAD53399,AAD53400,AAD33412,AAD43585,CAA11257,BAG52766,BAD97122,BAF83900,BAG60594,BAH14865,AAH33217,AAI36364,AAI36365,AAI44036,O95173,O96023,Q05BT1,Q53F87,Q5SYU9,Q5SYV1,Q9UL10,Q9UL11,Q9UL12 Hs.198003 DMGDHL1|FLJ36475|SAR|SARD|SDH BPR-2|OTTHUMP00000022506|dimethylglycine dehydrogenase-like 1|sarcosine dehydrogenase, mitochondrial protein-coding 1320776 SARM1 sterile alpha and TIR motif containing 1 19913121,20628086,9628581,18089857,17804407,16964262,15893701,15123841,14702039,12477932,11386760,20306472,21048031 23098 NM_015077,AC002094,CH471159,CQ859792,AB011096,AJ290445,AK093615,AK302038,AK314609,AY444166,BC040429,BC122860,CR623769,CR626592 NP_055892,EAW51083,EAW51084,CAH25946,BAA25450,CAB90355,BAG52744,BAG63432,AAR17520,AAH40429,AAI22861,Q05B42,Q0D2N8,Q6SZW1 Hs.446689 FLJ36296|KIAA0524|SAMD2|SARM SAM domain-containing protein 2|sterile alpha and Armadillo repeat protein|sterile alpha and HEAT/Armadillo motif protein, ortholog of Drosophila|sterile alpha and TIR motif-containing protein 1|sterile alpha motif domain-containing protein 2|tir-1 homolog protein-coding 1603945 SARNP SAP domain containing ribonucleoprotein This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq] 14667819,11356193,17196963,15635413,15489334,15338056,15284855,15048984,12477932,11922608,11790298,11181995,11042152,9373149,8125298,16189514 84324 NR_026722,NR_026723,NM_033082,AC023055,AC073487,AJ409089,CH471054,AF161434,AF486281,AK222719,AK290508,BC007099,BC093051,BI520421,CR593273,CR610192 NP_149073,CAC37950,EAW96838,AAF28994,AAM09686,BAF83197,AAH07099,AAH93051,P82979,Q567R9,ABZ92475 Hs.505676 CIP29|HCC1|HSPC316|MGC14726|THO1 SAP domain-containing ribonucleoprotein|cytokine induced protein 29 kDa|cytokine-induced protein of 29 kDa|hepatocellular carcinoma 1|nuclear protein Hcc-1|proliferation associated cytokine-inducible protein CIP29|proliferation-associated cytokine-inducible protein CIP29 protein-coding 1348583 SARS seryl-tRNA synthetase This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. [provided by RefSeq] 1580863 20571754,11331419,20562859,15342556,16341674,16344560,8889548,9431993,17353931,19423847,15489334,14702039,12477932,11945516,11577083,11317363,9637248,9373149,8125298,7540217,18029348,20877624 6301 BM666450,BM798814,BP363347,DA792457,NR_034072,NR_034073,NM_006513,AL356389,CH471122,AK093718,AK222677,AK312771,BC000716,BC009390,BC111398,CR591384,CR591587,CR593255,CR594119,CR598107,CR598649,CR598859,CR600592,CR600786,CR602844,CR606223,CR614273,CR615635,CR616169,CR620540,CR622656,CR623378,CR625256,CR625421,CR626109,D49914,X91257 NP_006504,CAI13599,CAI13600,EAW56365,EAW56366,EAW56367,EAW56368,EAW56369,EAW56370,EAW56371,BAD96397,BAG35636,AAH00716,AAH09390,AAI11399,BAA95602,CAA62635,P49591,Q0VGA5,Q53HA4,ABM83070,ABM86265 Hs.531176,Hs.656334 FLJ36399|SERRS|SERS Seryl-tRNA Ser/Sec synthetase|serine tRNA ligase 1, cytoplasmic|serine--tRNA ligase|serine-tRNA ligase|seryl-tRNA synthetase, cytoplasmic|seryl-tRNA(Ser/Sec) synthetase protein-coding 1319808 SARS2 seryl-tRNA synthetase 2, mitochondrial This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 19439209,19615732,10764807,17353931,18755224,15489334,15109557,14702039,12477932,11331419,11317363,16133542,20877624 54938 NM_001145901,AC011455,CH471126,AB029948,AK000457,AK098522,AK293414,AK296152,AK296170,BC001020,BC042912,CA415983,CR599609,CR611000,CR618695,NM_017827 NP_060297,NP_001139373,EAW56844,EAW56845,EAW56846,EAW56847,EAW56848,BAA99557,BAA91176,BAG56921,BAG58891,BAG58908,AAH01020,AAH42912,Q9NP81 Hs.709416 FLJ20450|SARS|SARSM|SERS|SYS|SerRS|SerRSmt|mtSerRS mitochondrial seryl-tRNA synthetase|serine tRNA ligase 2, mitochondrial|serine--tRNA ligase|serine-tRNA ligase, mitochondrial|seryl-tRNA synthetase, mitochondrial|seryl-tRNA(Ser/Sec) synthetase|seryl-trna synthetase 2 protein-coding 736742 SART1 squamous cell carcinoma antigen recognized by T cells This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq] 1580863 18029348,15302935,16158934,10209962,9856836,10929426,18838541,18374504,17081983,16344560,15620657,15489334,15175327,14702039,12477932,12189166,12032085,11991638,11410364,11350945,11156463,11092984,10853014,10551332,9449708,9373149,8889548,8125298,16687569,17643375,19615732,20056645 9092 NM_005146,AF109680,AP006287,CH471076,AB006198,AF353625,AK223016,AK293200,AK297589,AK298184,AU136920,AW082868,BC001058,BC018607,BM668558,BM693243,BT006637,BX648500,CR611735,CR626621,Y14314 NP_005137,AAD20223,EAW74474,EAW74475,BAA24056,AAK49523,BAD96736,BAG56740,BAG59976,BAG60455,AAH01058,AAP35283,CAA74694,O43290,ABM82620,ABW03446 Hs.502883 Ara1|HOMS1|MGC2038|SART1259|SNRNP110|Snu66 IgE autoantigen|SART-1|SART1(259) protein|SART1(800) protein|SNU66 homolog|U4/U6.U5 tri-snRNP-associated 110 kDa protein|U4/U6.U5 tri-snRNP-associated protein 1|hSART-1|hSnu66|small nuclear ribonucleoprotein 110kDa (U4/U6.U5)|squamous cell carcinoma antigen recognised by T cells|squamous cell carcinoma antigen recognized by T cells 1 protein-coding 1323212 SART3 squamous cell carcinoma antigen recognized by T cells 3 The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq] 1580863 11477570,17353931,19148489,18567812,17081983,16713569,16344560,15489334,15452143,15314151,15146197,15031286,14749385,12578909,12477932,12421765,12374753,12032085,11959860,11920522,11092984,10844547,10761712,10463607,9373149,8590280,8125298,17643375,19615732 9733 NM_014706,NG_012155,AC008119,AC010206,CH471054,AB020880,AB073647,AF387506,AI656011,AK225174,AK290209,AK299250,AK302332,AK304834,BC004547,BC015627,BC024279,BC032601,BC041638,BC093784,BC103706,BC111983,BC143253,BQ231651,CN349201,D63879,DA391623 NP_055521,EAW97816,EAW97817,BAA78384,AAK69347,BAF82898,BAG61281,BAG63664,BAG65578,AAH32601,AAH41638,AAH93784,AAI03707,AAI11984,AAI43254,BAA09929,Q15020 Hs.584842 DSAP1|KIAA0156|MGC138188|P100|RP11-13G14|TIP110|p110|p110(nrb) SART-3|hSART-3|squamous cell carcinoma antigen recognised by t cells 3|squamous cell carcinoma antigen recognized by T-cells 3|tat-interacting protein of 110 kDa protein-coding 1350407 SASH1 SAM and SH3 domain containing 1 1580863 17474147,18978678,18464913,17088907,17081983,15790807,15489334,14702039,12771949,12477932,15778465,21150874,9872452,19913121,20628086,19749422,20084102,20379614 23328 NM_015278,AL033378,AL357567,AL513164,AL589940,AY351979,CH471051,AB018333,AJ420508,AJ507735,AK023607,AK024403,AK025495,AK074249,AK300403,AY927559,BC028303,BC063279,BN000088,BX537611 NP_056093,CAI20166,CAH73449,AAQ55463,EAW47815,EAW47816,BAA34510,CAD47811,BAB14909,BAG62133,AAH28303,AAH63279,CAD92036,CAD97798,O94885,Q6P4R9,Q7Z3N8 Hs.193133 KIAA0790|RP3-323M4.1|SH3D6A|dJ323M4|dJ323M4.1 2500002E12Rik|SAM and SH3 domain-containing protein 1|proline-glutamate repeat-containing protein protein-coding 1353862 SASH3 SAM and SH3 domain containing 3 SLY contains an Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling (Beer et al., 2001 [PubMed 11470164]).[supplied by OMIM] 18029348,15761153,15489334,12515807,12477932,11470164,9094723 54440 NM_018990,AL023653,CH471107,AK292023,AK296665,AK314869,AL049683,BC051881,CR975883,NG_013260 NP_061863,CAA19221,EAX11826,BAF84712,BAG59262,BAG37384,CAB41255,AAH51881,O75995 Hs.61469 753P9|CXorf9|HACS2|SH3D6C|SLY SAM and SH3 domain-containing protein 3|SH3 protein expressed in lymphocytes homolog protein-coding 1603551 SASS6 spindle assembly 6 homolog (C. elegans) SAS6 is necessary for centrosome duplication and functions during procentriole formation; SAS6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle Strnad et al., (2007) [PubMed 17681132].[supplied by OMIM] 19503075,17681132,16710414,15572125,12477932,20308539,15665853,14654843,16244668,17681131,19615732 163786 NM_194292,AC093019,AL445928,CH471097,AK025750,AK302513,AK307824,AL834265,AY359522,BC054889,BC101026,BX641109,BX648406 NP_919268,CAH72248,EAW72974,EAW72975,BAG63789,CAD38940,AAQ57128,AAI01027,Q495U0,Q6UVJ0 Hs.591447 FLJ22097|MGC119440|SAS-6|SAS6 hsSAS-6|spindle assembly abnormal protein 6 homolog protein-coding 1346323 SAT1 spermidine/spermine N1-acetyltransferase 1 Spermidine/spermine N(1)-acetyltransferase (SSAT; EC 2.3.1.57) is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, spermine can be converted to spermidine and spermidine to putrescine (Casero et al., 1991 [PubMed 1985966]).[supplied by OMIM] 1580863 20628624,16544326,16389195,16262603,16207710,16189514,16169070,15905201,15489334,15479742,15213272,15159132,15146197,14506281,12803540,12600646,12539042,12477932,12427553,12215835,12083816,11779193,11485561,10646846,8954982,8670140,8573111,8033120,2241897,1985966,19060904,11256614,19162121,19051286,18759322,18660501,18430370,17875644,17516632,17065202,16854216,16769699,16757480,16637064,1989509,1652956,1417826,19152344,19446796,19686286,19727732,19851986,20212040 6303 NM_002970,NR_027783,AC131011,CH471074,U40369,Z14136,AF251292,AK310078,AK312162,AK315888,AL050290,AY841998,BC002503,BC008424,BR000410,BT006825,CD638929,CN271682,CR450294,CR590358,CR594832,CR597630,CR601221,CR610144,CR624470,M55580,M77693,NG_012929 NP_002961,EAW98999,EAW99000,AAA98854,CAA78509,AAG44592,BAG35096,BAF98779,AAW03315,AAH02503,AAH08424,FAA00324,AAP35471,CAG29290,AAA63260,AAA60573,P21673,Q2TM25,Q6ICU9,Q9H2N9 Hs.28491 DC21|KFSD|KFSDX|SAT|SSAT|SSAT-1 OTTHUMP00000023064|diamine N-acetyltransferase 1|diamine acetyltransferase 1|polyamine N-acetyltransferase 1|putrescine acetyltransferase|spermidine/spermine N(1)-acetyltransferase 1|spermidine/spermine N1-acetyltransferase alpha protein-coding 1317312 SAT2 spermidine/spermine N1-acetyltransferase family member 2 737633,1580863 19170196,19625176,19692168,18949426,18676680,17875644,17558023,16189514,15761153,15489334,15342556,15283699,12803540,12477932,17119850,16596569 737633 112483 NM_133491,AC007421,CH471108,AF348524,BC011751,BC065922,BC095466,BP317593,CR604966,CR610611 NP_597998,EAW90151,EAW90152,EAW90153,AAL83905,AAH11751,AAH95466,Q502X4,Q96F10 Hs.10846 SSAT2 diamine N-acetyltransferase 2|diamine acetyltransferase 2|polyamine N-acetyltransferase 2|spermidine/spermine N(1)-acetyltransferase 2|spermidine/spermine N1-acetyltransferase 2|thialysine N-epsilon-acetyltransferase protein-coding 1313660 SATB1 SATB homeobox 1 1580863 20126258,1505028,15851481,19332023,19103759,19072498,18408014,18337816,17652321,17376900,17343824,17173041,16630892,16377216,16371359,16344560,16189514,15970696,15618465,15561718,15489334,14605447,12766061,12692553,12477932,12374985,12036295,11937547,11463840,10373541,9886398,9417904,9284917,8114718,7829101,17057718,19304547,19860849,20351170,20379614,20595686,20811679 6304 NM_001131010,AC139618,AC144521,CH471055,AA001621,AB209761,AK127242,AU127749,BC001744,BE218845,BI494258,CD677701,DB134320,M97287,U92993,NM_002971,NG_027814,DA938384,DB141938,NM_001195470,GN344109,HI589661 NP_002962,NP_001124482,EAW64291,EAW64292,EAW64293,BAD92998,BAG54463,AAH01744,AAA60304,Q01826,ABM82796,ABM85984,NP_001182399,CAY55990,CBX55095 Hs.517717 DNA-binding protein SATB1|OTTHUMP00000207689|special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA's)|special AT-rich sequence-binding protein 1 protein-coding 1343440 SATB2 SATB homeobox 2 1580863 16953426,16327884,15489334,14702039,14701874,12915443,12477932,10964520,10470851,20634891,18029348,20228799,19668335,19937600 23314 NM_015265,AC016746,AC017096,CH471063,AB028957,AB209376,AJ438951,AK025127,AK056638,AK291463,BC098136,BC099723,BC103492,BC103500,NG_016976,NM_001172509,NM_001172517 NP_056080,EAW70180,EAW70181,BAA82986,BAD92613,BAB15073,BAG51771,BAF84152,AAH98136,AAH99723,AAI03493,AAI03501,Q3ZB87,Q59FT3,Q9H726,Q9UPW6,ABZ92224,NP_001165980,NP_001165988 Hs.725120 FLJ21474|FLJ32076|KIAA1034|MGC119474|MGC119477 DNA-binding protein SATB2|OTTHUMP00000163655|OTTHUMP00000205774|OTTHUMP00000205775|OTTHUMP00000208037|OTTHUMP00000208038|SATB family member 2|special AT-rich sequence-binding protein 2 protein-coding 1343887 SATL1 spermidine/spermine N1-acetyl transferase-like 1 737633,1580863 15772651,15489334,12477932 737633 340562 NM_001012980,CH471104,Z99571,BC043215,BC126401,NG_016590 NP_001012998,EAW98567,CAI42723,AAH43215,AAI26402,Q86VE3 Hs.640783 OTTHUMP00000023622|spermidine/spermine N(1)-acetyltransferase-like protein 1 protein-coding 1316338 SAV1 salvador homolog 1 (Drosophila) WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a coiled-coil region. It is ubiquitously expressed in adult tissues. The encoded protein is 94% identical to the mouse protein at the amino acid level. [provided by RefSeq] 1580863 16930133,19212654,15688006,15489334,14702039,12969014,12477932,12202036,11027580,9373149,8125298,15778465,20562859,19950692,17207965 60485 NM_021818,AL606834,CH471078,AF088000,AJ292969,AK021500,AK023071,AK095903,AK225896,AK290883,AL833378,BC006385,BC020537,CR457297 NP_068590,EAW65702,EAW65703,EAW65704,CAC13972,BAB13835,BAB14390,BAG53163,BAF83572,AAH20537,CAG33578,Q9H4B6,ADQ31795 Hs.642842 SAV|WW45|WWP4 1700040G09Rik|45 kDa WW domain protein|WW domain-containing|hWW45|protein salvador homolog 1 protein-coding 1351939 SAX1 spastic ataxia 1 (dominant) 114610 1322290 SBDS Shwachman-Bodian-Diamond syndrome This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq] 1599541 19951977,17207965,20979173,18324336,17475909,17643419,15342903,17920346,18478597,14743349,15860664,19148133,19014892,19009351,18280855,18268284,18190602,18024409,17916435,17478638,17400792,17046571,16529906,15942154,15769891,15635413,15489334,15284109,14749921,14702039,12496757,12477932,12032733,10810093,19602484,19759903,19816210,20015955,20053358 1599541 51119 NM_016038,NG_007277,AC079920,CH471140,CQ787569,AF151855,AK001779,AK289609,AY169963,BC065700,CR591576,CR593490,CR596032,CR597378,CR599805,CR601234,CR601377,CR604577,CR606525,CR606624,CR610261,CR612387,CR613195,CR613995,CR622210,CR622442,CR626007 NP_057122,EAX07906,CAG17753,AAD34092,BAA91905,BAF82298,AAN77490,AAH65700,ADQ31940,Q9Y3A5 Hs.110445 CGI-97|FLJ10917|SDS|SWDS ribosome maturation protein SBDS|shwachman-Bodian-Diamond syndrome protein protein-coding 1348153 SBDSP Shwachman-Bodian-Diamond syndrome pseudogene 16344560,15146197,12496757,12477932,11329013,9847074,8889548 155370 NR_024110,NR_024111,NR_001588,NR_024109,AC005236,BC010183,BG212607,BM974324,BQ441749,CB216674,CN267170,CR599716,CR607512,CR607679,CR610804,CR620464,CX867149,DA143511 AAQ96837 Hs.585053 SBDSP pseudo 1316075 SBF1 SET binding factor 1 1580863 9736772,19369647,15489334,14702039,12668758,12477932,11994405,11686296,10848615,10591208,9537414,8889548,17148452,19851296,20198315 6305 NM_002972,AL096767,CH471138,AB209682,AF072929,AK057985,BC009268,BC024101,BC040031,BC046169,BC056915,BC087612,BG766677,BI821356,BM975530,BU931657,BX341189,CA868136,CR610158,CR749672,U93181 NP_002963,CAO03460,CAO03461,CAO03462,CAO03463,EAW73536,EAW73537,EAW73538,EAW73539,EAW73540,BAD92919,AAC78842,AAH09268,AAH46169,AAH56915,AAH87612,CAH18463,AAC39675,O95248,Q59EX9,Q68CX1,Q6PGN5,Q86TK5,ACE87108,ACE86433 Hs.589924 DKFZp761D0422|MGC99700|MTMR5 OTTHUMP00000196597|OTTHUMP00000196599|SET-binding factor 1|myotubularin related 5|myotubularin-related protein 5 protein-coding 2308875 SBF1P1 SET binding factor 1 pseudogene 1 100133234 AW297679,NR_027765,AF165144 pseudo 1354184 SBF2 SET binding factor 2 This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq] 15998640,19039035,16344560,15489334,15477569,15304601,14702039,12687498,12554688,12477932,11214970,10644431,9521281,18429927,18774718,17148452,17880751,19936222,20379614 81846 NM_030962,NG_008074,AC011092,AC015700,AC026250,AC080023,AC100763,AB051553,AF085830,AI268862,AK022478,AK026571,AK091362,AK123621,AL512756,AL832942,AY234241,BC011143,BC027492,BC043389,BC053867,BC063656,BC101466,BX538184,BX647533,CR603765,CR611690,CR749312,CT000365,DA862574 NP_112224,BAB21857,BAG52341,BAG53924,CAC21675,CAH56315,AAO62733,AAH11143,AAH43389,AAH53867,AAH63656,AAI01467,CAD98056,CAH18167,Q658X1,Q86WG5,Q9H032 Hs.577252 CMT4B2|DKFZp779B2327|FLJ22918|FLJ41627|KIAA1766|MTMR13 SET-binding factor 2|myotubularin related 13|myotubularin-related protein 13 protein-coding 1344532 SBK1 SH3-binding domain kinase 1 19240061,17081983,11322885,19041431 388228 NM_001024401,AC138904,CH471145,AL390134,AY874862,CR603791 NP_001019572,EAW55733,AAX59898,Q52WX2,AAI72295 Hs.97837 Sbk SH3-binding kinase 1|serine/threonine-protein kinase SBK1 protein-coding 2302831 SBK2 SH3-binding domain kinase family, member 2 17344846,15057824,12471243 646643 NM_001101401,AC008735,AX481603 NP_001094871,CAD44406,P0C263 Hs.532676 SGK069 OTTHUMP00000208765|Putative uncharacterized serine/threonine-protein kinase SgK069|Sugen kinase 69|serine/threonine-protein kinase SBK2 protein-coding 1320657 SBNO1 strawberry notch homolog 1 (Drosophila) 17308053,20379614,14702039,12477932,20881960 55206 AF086046,AK024128,AK092518,NM_001167856,AC068768,AC137767,CH471054,AB014772,AK001563,AK001695,AK074256,AK096864,AK122703,AK307488,AY364255,BC030544,NM_018183,BC041141,BC129949,BC133704 NP_001161328,NP_060653,EAW98402,EAW98403,EAW98404,EAW98405,BAB19784,BAA91758,BAA91842,BAG53383,AAQ76814,AAH30544,AAI33705,A3KN83,Q9NVJ3 Hs.7012 FLJ10701|FLJ10833|FLJ14066|FLJ16176|FLJ35199|MOP3|Sno monocyte protein 3|protein strawberry notch homolog 1|sno, strawberry notch homolog 1 (drosophila) protein-coding 1316240 SBNO2 strawberry notch homolog 2 (Drosophila) 18025162,19068216,15342556,12477932,10231032,19913121,20628086,20379614,19760754 22904 NM_014963,NM_001100122,AC005390,AC093067,AC120982,CH471139,AB023180,AI433817,AK074102,AK125139,AK292407,AK296849,AK300981,AK309167,BC106021,BC127011,BG332816,BP315965,BQ950129,CR600068,CR614406,DC400108 NP_055778,NP_001093592,AAC28919,EAW69541,EAW69542,BAA76807,BAB84928,BAG54153,BAF85096,BAG59415,BAG62603,AAI06022,AAI27012,Q9Y2G9 Hs.408708 FLJ00173|KIAA0963|SNO|STNO protein strawberry notch homolog 2 protein-coding 1602809 SBSN suprabasin 10737800,17562024,15256262,15234001,12975309,12477932,12228223 374897 AA055367,BF838582,CU448844,NM_001166034,NM_001166035,AY358701,BC063640,BX648076,NM_198538,AC002389,AK291305 BAF83994,NP_001159506,NP_001159507,AAQ89064,AAH63640,Q6UWP8,NP_940940 Hs.433484 MGC75533|UNQ698 HLAR698|suprabasin protein-coding 1342540 SC Scianna blood group 6306 737148 SC4MOL sterol-C4-methyl oxidase-like Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 8663358,18660489,16713569,15489334,12477932 6307 NM_001017369,AC012504,CH471056,AK292418,AK295432,AK309206,AV704962,BC010653,BC107879,BU940384,BX441001,CR605188,CR617900,NM_006745,CR618021,CR623263,CR623543,U60205,U93162,HH768149,FB336810 NP_006736,NP_001017369,EAX04820,EAX04821,BAF85107,BAH12066,AAH10653,AAI07880,ABM81986,ABM85163,AAC50587,AAB81566,Q15800,CBX84826,CAR81350 Hs.105269,Hs.593050 DESP4|ERG25|MGC104344 C-4 methyl sterol|C-4 methylsterol oxidase|OTTHUMP00000219759|OTTHUMP00000219760|methylsterol monooxygenase protein-coding 1346823 SC4MOP sterol-C4-methyl oxidase pseudogene 6308 NG_001194,AL121578,U93261 DESP4P1 pseudo 1351356 SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] 1580863,1599537,2316911,2316868,2316857 20634891,8976377,18660489,15489334,14702039,12812989,12477932,12189593,11731337,10786622,10769175,10601301,10344195,9373149,8466936,8125298,7961720,7560069,7770068,20144677,20379614,17207965 1599537,2316911,2316868,2316857 6309 NM_001024956,AB057650,AP002959,CH471065,AF187981,AK027246,AK096847,AK222686,NM_006918,AK223141,AK312634,BC012333,BC050427,BI559520,R60770,AF069469,NG_009446 NP_008849,NP_001020127,BAB68218,EAW67519,EAW67520,EAW67521,EAW67522,AAF00544,BAD96406,BAD96861,BAG35518,AAH12333,AAH50427,O75845,Q6GTM5,ADQ31867 Hs.287749 ERG3|S5DES|SC5D 3beta-hydroxysteroid-delta5-desaturase|C-5 sterol desaturase|delta(7)-sterol 5-desaturase|fungal ERG3, delta-5-desaturase-like|lathosterol 5-desaturase|lathosterol dehydrogenase|lathosterol oxidase protein-coding 732924 SC65 synaptonemal complex protein SC65 This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq] 8862517,16396496,15489334,14702039,12477932,10952778,9373149,8125298,16341674 10609 NM_006455,AC091172,AC109319,CH471152,AJ250583,AK056016,AK056085,AK222945,AK301301,BC001047,BC007942,BC011701,BM834302,U47621 NP_006446,EAW60766,CAC16786,BAD96665,BAG62857,AAH01047,AAH07942,AAH11701,AAC51792,Q92791,ABM84524,ACE87129,ACE86453 Hs.446459 NO55|NOL55|SC65 OTTHUMP00000164758|leprecan-like protein 4|nucleolar autoantigen (55kD)|nucleolar autoantigen No55|nucleolar autoantigen, 55kDa|synaptonemal complex protein SC65 protein-coding 1352262 SCA11 spinocerebellar ataxia 11 10417284 10977 1345814 SCA13 spinocerebellar ataxia 13 10820125 57363 1351203 SCA15 spinocerebellar ataxia 15 11723290 140449 1353892 SCA16 spinocerebellar ataxia 16 57043 1347005 SCA18 spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) 11992570 94008 1349872 SCA19 spinocerebellar ataxia 19 12384780 140452 1354041 SCA20 spinocerebellar ataxia 20 14998916 407973 1352970 SCA21 spinocerebellar ataxia 21 11160961 170545 1342705 SCA22 spinocerebellar ataxia 22 12764052 140575 1347379 SCA23 spinocerebellar ataxia 23 259268 1354115 SCA25 spinocerebellar ataxia 25 14705117 338435 1344127 SCA26 spinocerebellar ataxia 26 408221 1349236 SCA4 spinocerebellar ataxia 4 6312 1343643 SCA5 spinocerebellar ataxia 5 7874171 6313 1342581 SCA9 spinocerebellar ataxia 9 9159738 140451 733391 SCAF1 SR-related CTD-associated factor 1 20379614,16713569,16631123,15302935,14702039,12477932,11461075,19913121,20628086 58506 NM_021228,AC011495,AF254411,CH471177,AK024444,BC011662,BC018398,BC023628,BC053992,BQ896877,CR604142 NP_067051,AAF87552,EAW52508,EAW52509,BAB15734,AAH11662,AAH18398,AAH53992,Q7Z6I4,Q9H7N4 Hs.103521 FLJ00034|SRA1 SCAF|SR-related-CTD-associated factor|ctd-binding sr-like ra1|serine arginine-rich pre-mRNA splicing factor SR-A1|splicing factor, arginine/serine-rich 19 protein-coding 1316447 SCAI suppressor of cancer cell invasion 16344560,19350017,20379614,15164053,14702039,12477932 286205 BM873972,DB048788,NG_016620,NM_001144877,NM_173690,AL445930,AL451125,CH471090,AF086497,AK021820,AK093983,AK098024,BC029431,BC037940,BC104030,BC104031,BC104032 NP_001138349,NP_775961,CAI13674,CAI14348,EAW87608,EAW87609,BAC05217,AAI04031,AAI04032,AAI04033,Q3SXZ0,Q8N9R8 Hs.59504 C9orf126|FLJ11758|FLJ36664|MGC120525|MGC120526|MGC120528|NET40 OTTHUMP00000215848|protein SCAI|suppressor of cancer cell invasion protein protein-coding 731550 SCAMP1 secretory carrier membrane protein 1 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. [provided by RefSeq] 1580863 9653160,9373149,9224770,9110174,8619474,8404846,8125298,15840657,9378760,16713569,16344560,15489334,14759258,14702039,12477932,12475951,12124380,11050114,11042173,11042152,10777571,9658162,19668339,20379614 9522 CR624486,DB213762,AC010585,AC104108,CH471084,AF005037,AF038966,AF131858,AK001417,AK001541,AK225172,AK290225,AK298146,AK304452,AL049223,BC009787,BC015065,BC016355,BC034048,CB960371,CR542286,NM_004866 O15126,Q96AZ4,NP_004857,EAW95814,EAW95815,EAW95816,EAW95817,AAB62722,AAC39864,BAF82914,BAG60422,BAG65269,AAH15065,AAH16355,AAH34048,CAG47081 Hs.482587 SCAMP|SCAMP37 OTTHUMP00000222103|secretory carrier-associated membrane protein 1 protein-coding 68490 SCAMP2 secretory carrier membrane protein 2 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. [provided by RefSeq] 1580863 14702039,12477932,12475951,12124380,9224770,15840657,9378760,19276089,17713930,16870614,16169070,15489334,18029348,20424473 10066 NM_005697,AC091230,CH471136,AF005038,AK096376,AK096794,AK291884,AK315516,BC001376,BC004385,CR456800,CR600693,CR602292 NP_005688,EAW99299,EAW99300,AAB62723,BAG53276,BAF84573,BAG37897,AAH01376,AAH04385,CAG33081,O15127,Q6IBK3 Hs.458917 secretory carrier-associated membrane protein 2 protein-coding 68495 SCAMP3 secretory carrier membrane protein 3 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9378760,19158374,17081983,15592455,15489334,15144186,12477932,10777571,9658162,9331372,9224770,19438519,21102463 10067 CR614292,CR615351,CR616361,CR617930,CR620488,CR620807,CR623315,CR624929,CR625336,NM_052837,AF023268,AL713999,CH471121,AF005039,BC000161,BC005135,BC010505,CR541757,CR591169,CR594552,CR595229,CR595790,CR595973,CR597366,CR597858,CR603538,CR605236,CR608453,CR610056,CR612186,CR612262,CR613841,NM_005698 O14828,Q6FHJ5,NP_005689,NP_443069,AAC51821,CAI95095,CAI95096,EAW53090,EAW53091,EAW53092,EAW53093,AAB62724,AAH00161,AAH05135,AAH10505,CAG46557 Hs.200600 C1orf3 propin 1|secretory carrier-associated membrane protein 3 protein-coding 1345872 SCAMP4 secretory carrier membrane protein 4 737633,1580863 16303743,15489334,14702039,12477932,11295240,11050114,20379614 737633 113178 BC062598,BX647235,CR607576,AC012615,CH471139,CQ782937,AF109187,AF173896,AK074586,AK074967,AK091166,AK092056,AK307641,AK307700,AL832731,BC007958,BC011747,BC016509,BC016685,NM_079834 AAH62598,Q969E2,ABM82989,ABM82990,ABM82992,ABM86184,NP_524558,EAW69435,CAF86165,AAQ13496,AAQ13643,BAC11075,BAC11322,BAC03797,AAH11747,AAH16509 Hs.144980 FLJ33847|FLJ90105|SCAMP-4 OTTHUMP00000206200|OTTHUMP00000206201|secretory carrier-associated membrane protein 4 protein-coding 1343509 SCAMP5 secretory carrier membrane protein 5 737633 15840657,19234194,19240033,16381901,15489336,15489334,14702039,12477932,11230166,11076863,11050114,16344560,20071347 737633 192683 AC015720,CH471136,CS320139,AF495715,AK025678,AK056438,AK126940,AK127480,AK301505,AL360203,AL833230,NM_138967,AL834226,BC024700,CR605604,CR936761,DA810757,NM_001178111,NM_001178112,NR_033660 NP_620417,EAW99277,EAW99278,EAW99279,EAW99280,EAW99281,EAW99282,EAW99283,EAW99284,CAK96044,AAM18052,BAG51709,BAG54404,BAG54511,BAH13498,CAH10607,CAD38904,AAH24700,Q69YJ5,Q8TAC9,CAL38295,NP_001171582,NP_001171583 Hs.374180 DKFZp686L1799|MGC24969 hSCAMP5|secretory carrier-associated membrane protein 5 protein-coding 1318355 SCAND1 SCAN domain containing 1 The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. Functional studies have established that the SCAN box is a protein interaction domain that mediates both hetero- and homoprotein associations, and maybe involved in regulation of transcriptional activity. Two transcript variants with different 5' UTRs, but encoding the same protein, have been described for this gene. [provided by RefSeq] 1580863 18660489,16540086,16381901,16189514,15489336,15489334,12477932,12444922,12383503,11780052,11076863,10777584,10747874,10567577,11256614,20211142 51282 NM_033630,AL109965,CH471077,AF204271,AF207829,BC000785,BC036709,BC041022,CR457188,NM_016558,BU190039,BU752664,BU848795 NP_057642,NP_361012,CAC09390,EAW76150,EAW76151,EAW76152,AAF59839,AAF66832,AAH00785,AAH36709,AAH41022,CAG33469,P57086,Q9NZG6,CAL37761,CAL38007,ABZ92024 Hs.584909,Hs.517008 RAZ1|SDP1 OTTHUMP00000030813|SCAN domain-containing 1|SCAN domain-containing protein 1|SCAN-related protein RAZ1 protein-coding 1350423 SCAND2 SCAN domain containing 2 pseudogene 1580863 17081983,15489334,14702039,12477932,12036577,11056053,10567577 54581 NR_003654,AC048382,AF244812,CH471101,AA280726,AF229246,AI218957,AK022844,AK290489,AL109690,AW341587,BC011547,BC012929,BC063836,BC093922,BC093924,BF115195,CR594703,NR_004859 AAG34567,EAX01938,EAX01939,EAX01940,EAX01941,EAX01942,EAX01943,AAG33966,BAB14268,BAF83178,Q9GZW5 Hs.658114 pseudo 1351610 SCAND3 SCAN domain containing 3 18029348,16381901,15489336,15489334,14702039,14574404,12477932,11572484,11230166,11076863 114821 NM_052923,AL049543,AL671879,CH471081,AB067512,AK056369,AL713690,AL832486,AY517631,BC110834,BC111741,BC111742,BX647791 CAB71122,CAI17641,EAX03170,BAB67818,BAB71166,CAD28490,AAS01734,AAI10835,AAI11742,AAI11743,Q6R2W3,Q9HCY4,CAL37757,CAL38739,NP_443155 Hs.176980 DKFZp434N092|FLJ31087|KIAA1925|MGC131782|MGC133310|MGC133311|ZFP38-L|ZNF305P2|ZNF452|dJ1186N24.3 SCAN domain-containing protein 3|dJ1186N24.3 (novel zinc finger protein)|zinc finger protein 305 pseudogene 2|zinc finger protein 452 protein-coding 1604827 SCAP SREBF chaperone This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. [provided by RefSeq] 1581819,2317203 16549805,11726962,11969205,11726974,19116028,18660489,18195716,17570245,17383658,16466730,16344560,16303743,15489334,14702039,12842885,12482938,12477932,12242332,12202038,12168954,10896675,10570919,10570913,9642295,17963605,9242699,8898195,8724849,18835813,15782218,19706601,19740467,19878569,19948975,20031551,20186155 1581819,2317203 22937 D83782,AC099778,CH471055,AK027402,AK074312,AK075528,AK091005,AK291484,AK300311,AU152077,BC020987,BC027207,BI160250,CR623836,CR625407,NM_012235 Q12770,BAA12111,Q6PIX8,NP_036367,EAW64825,EAW64826,BAB55088,BAC11673,BAF84173,BAH13256,AAH20987,AAH27207 Hs.531789 KIAA0199 SREBP cleavage-activating protein|sterol regulatory element binding protein cleavage-activating protein|sterol regulatory element-binding protein cleavage-activating protein protein-coding 1345518 SCAPER S-phase cyclin A-associated protein in the ER 1580863 18245951,17698606,17553665,14702039,12477932,12421765,10819331 49855 NM_020843,NM_001145923,AC015798,AC016343,AC027243,AC051643,AC090179,AC090751,CH471136,AB040887,AF119814,AF242528,AK025663,AK056095,AK056515,AK125919,AK128091,AL137612,BC015212,BC070197,BC107415,BT006762,BX647285,CR590728,CR625323 NP_065894,NP_001139395,EAW99217,EAW99218,EAW99219,BAA95978,AAG47945,AAK29205,CAB70841,AAH15212,AAH70197,AAI07416,AAP35408,Q6NSF1,Q9BY12,AAI56878 Hs.458986 FLJ31533|FLJ31953|FLJ46212|KIAA1454|MSTP063|ZNF291|Zfp291 S phase cyclin A-associated protein in the ER|S phase cyclin A-associated protein in the endoplasmic reticulum|zinc finger protein 291 protein-coding 1350296 SCAR1 spinocerebellar ataxia, recessive, non-Friedreich type 1 11022012 85506 1319520 SCARA3 scavenger receptor class A, member 3 This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 9580669,16436673,15489334,12477932,9747040,17207965,18806823,20485444 51435 NM_182826,NM_016240,AC013643,CH471080,DQ205185,AB007829,AB007830,BC060811,BC075067,BC075068 NP_878185,NP_057324,EAW63544,EAW63545,ABA27098,BAA86201,BAA86202,AAH60811,AAH75067,AAH75068,Q6AZY7,ADQ32966 Hs.128856 APC7|CSR|CSR1|MSLR1|MSRL1 cellular stress response gene protein|cellular stress response protein|macrophage scavenger receptor-like 1|scavenger receptor class A member 3 protein-coding 1606661 SCARA5 scavenger receptor class A, member 5 (putative) 16407294,16245330,15489334,14702039,12975309,12477932,20379614,16344560,21029358 286133 NM_173833,AC069113,AC104997,CH471080,AK172746,AK301006,AY337579,AY358150,BC033153,AA934589,BQ944057,CR604114,DA991818,DA993754 NP_776194,EAW63532,EAW63533,EAW63534,BAD18733,BAG62624,AAQ17470,AAQ88517,AAH33153,Q6ZMJ2 Hs.591833 FLJ23907|MGC45780|NET33|Tesr scavenger receptor class A member 5|scavenger receptor hlg|testis expressed scavenger receptor protein-coding 735633 SCARB1 scavenger receptor class B, member 1 1580028,1580003,1600654,1580004 20844007,12519372,12477932,12417285,12356718,12227853,12207878,12164779,12138091,12119305,12100619,12039952,12016218,11952809,11944916,11575708,11238031,11196441,10829064,7689561,7539776,4838888,1076467,20304957,20551015,20629037,20718868,20724701,20060115,20713650,20962076,21131975,21226579,10764676,12651854,9211901,19087225,14718538,17574123,11792700,19276229,19179658,19169357,19158204,19148942,19136670,19094442,18981156,18829747,18779054,18779053,18757346,18676680,18660489,18641187,18640393,18542840,18477479,18424859,18403724,18373109,18285332,18216094,18057374,18053692,18007013,17957039,17905649,17700364,17673517,17618962,17531953,17507483,17476110,17404186,17311943,17259591,17241464,17240192,17215280,17110915,17105723,16926440,16870193,16816107,16794223,16777453,16770077,16675450,16600224,16574909,16542392,16488891,16476701,16410457,16380385,16185081,16168958,16120612,15979078,15970294,15910850,15749707,15681296,15632171,15576377,15561721,15509885,15492319,15489334,15345670,15342124,15226391,15186961,15166784,15102890,15072554,14967816,14726519,14701812,14676281,14652019,14566094,14551195,12968020,12966036,12913001,12807968,12788901,12763030,12663276,12568179,12562842,12555245,17784784,18930459,19156545,19170196,19229312,19489872,19625176,19689828,19692168,19718657,19776133,19806217,19828610,19837407,19878569,19948975,19996318,20031551,20032583,20064494,20085651,20156043,20160195,20167577,20186155,20331378,20379614,20442857,20734064,20835684,20855565,19913121,20057170,20602615,20628086,20677014,20686565 1580028,1580003,1600654,1580004 949 NM_001082959,NM_005505,AC073593,AC126309,CH471054,AB209436,AF254409,AF515445,AK124112,AK302779,AK304730,BC022087,BC034322,BC080647,BC093732,BC112037,BC143319,BG770204,CA428516,CR591077,CR596041,CR598256,CR599999,CR600982,CR603816,CR607701,CR616190,CR624045,Z22555 NP_001076428,NP_005496,EAW98458,EAW98459,EAW98460,EAW98461,EAW98462,BAD92673,AAF91347,AAQ08185,BAG54008,BAG63983,BAG65493,AAH80647,AAH93732,AAI12038,AAI43320,CAA80277,Q59FM4,Q8WTV0,Q9NR60,ABM83763,ABM87082 Hs.520348 CD36L1|CLA-1|CLA1|MGC138242|SR-BI|SRB1 CD36 and LIMPII analogous 1|CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1|CD36 antigen-like 1|collagen type I receptor, thrombospondin receptor-like 1|scavenger receptor class B member 1|scavenger receptor class B type 1|scavenger receptor class B type III 2289510,2289628,2289630,2289632 BW451_H,BW500_H,BW501_H,BW502_H protein-coding 732465 SCARB2 scavenger receptor class B, member 2 The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Studies of the similar protein in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. Deficiency of the similar protein in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. [provided by RefSeq] 1580863 18022370,1374238,18996102,18308289,17673517,17215280,17110915,16542748,16368683,15489334,14702039,14570588,12754519,12628346,12620969,12477932,12370188,12356916,12107410,11840567,9478926,7539776,7509809,19913121,20602615,20628086,19543282,19847901,19933215,20032583,20237496 950 NM_005506,NG_012054,AC034139,AC110795,BX538257,CH471057,AK022432,AK056001,AK296519,AK313016,BC021892,BC035111,BQ924546,BT006939,CA395147,CR593966,CR610223,CR610560,CR615681,CR621934,CR626028,D12676 NP_005497,EAX05779,EAX05780,EAX05781,BAG59150,BAG35851,AAH21892,AAP35585,BAA02177,Q14108,Q53Y63,AAP36329,ABM84461,ABM84683 Hs.349656,Hs.714206 AMRF|CD36L2|HLGP85|LIMPII|SR-BII 85 kDa lysosomal membrane sialoglycoprotein|85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2|CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)|CD36 antigen-like 2|LGP85|LIMP II|cd36 antigen (collagen type i receptor, thrombospondin receptor)-like 2|lysosome membrane protein 2|lysosome membrane protein II protein-coding 1319619 SCARF1 scavenger receptor class F, member 1 The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells and mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Transcription factors ZNF444/EZF-2 and SP1 are found to be responsible for the regulation of this gene. Five alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 15371419,9395444,15489334,12477932,12154095,11978792,8590280 8578 NM_003693,NM_145350,NM_145352,NR_028075,NR_028076,AB052946,AC130343,CH471108,AB052947,AB052948,AB052949,AB052950,AK291810,AK298737,AK308904,AK310174,AK311370,AW263037,BC039735,D63483,D86864 NP_003684,NP_663325,NP_663327,BAC02692,EAW90596,EAW90597,EAW90598,EAW90599,EAW90600,BAC02693,BAC02694,BAC02695,BAC02696,BAF84499,BAG60884,AAH39735,BAA09770,BAA24070,Q14162 Hs.647430 KIAA0149|MGC47738|SREC|SREC1 acetyl LDL receptor|endothelial cells scavenger receptor|scavenger receptor expressed by endothelial cells protein-coding 1314385 SCARF2 scavenger receptor class F, member 2 The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 20887961,17474147,15489334,12477932,12154095 91179 AW301146,NM_153334,NM_182895,AC007731,CH471176,AB024433,AB052951,AF088043,AF522196,BC000584,BC009326 NP_699165,NP_878315,EAX02965,EAX02966,BAD93345,BAC53753,AAN45861,AAH00584,AAH09326,Q58A83,Q96GP6,AAI72421 Hs.474251 NSR1|SREC-II|SREC2|SRECRP-1 scavenger receptor class F member 2|scavenger receptor expressed by endothelial cells 2 protein protein-coding 1602765 SCARNA1 small Cajal body-specific RNA 1 677774 NR_002997,AL020997,AJ609484 Hs.689694 ACA35 miscrna 1602538 SCARNA10 small Cajal body-specific RNA 10 11157760 692148 AC006064,NR_004387,AF308283 U85 miscrna 1602760 SCARNA11 small Cajal body-specific RNA 11 677780 NR_003012,AC006064,AJ609487 Hs.689692 ACA57 miscrna 1602762 SCARNA12 small Cajal body-specific RNA 12 12032087,8723724,9074930 677777 NR_003010,AY077739,U47924 Hs.689636 U89 miscrna 1602771 SCARNA13 small Cajal body-specific RNA 13 12409454 677768 NR_003002,AF492209,AL133467 Hs.448753 U93 miscrna 1602537 SCARNA14 small Cajal body-specific RNA 14 14602913 692149 NR_004388,AY349601,AC055855 U100 miscrna 1602761 SCARNA15 small Cajal body-specific RNA 15 19026782 677778 NR_003011,AC105339,AJ609485 Hs.719372 ACA45 miscrna 1602759 SCARNA16 small Cajal body-specific RNA 16 677781 NR_003013,AC015815,AJ609486 Hs.728048 ACA47 miscrna 1602770 SCARNA17 small Cajal body-specific RNA 17 15556860,12032087 677769 NR_003003,AC090227,BK005569,AY077741 U91 miscrna 1602774 SCARNA18 small Cajal body-specific RNA 18 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16361266 677765 NR_003139,AC022416,AM055742 Hs.693283 U109 miscrna 1602773 SCARNA2 small Cajal body-specific RNA 2 15556860,12477932,19906720 677766 NR_003023,AL356488,BK005568,BC071822 Hs.550815 HBII-382|mgU2-25/61 miscrna 1602937 SCARNA20 small Cajal body-specific RNA 20 16373490 677681 NR_002999,AC104763 ACA66 miscrna 1602775 SCARNA21 small Cajal body-specific RNA 21 16373490 677763 NR_003000,AC104581 ACA68 miscrna 1602769 SCARNA22 small Cajal body-specific RNA 22 677770 NR_003004,AL132868,AJ609470 Hs.676951 ACA11 miscrna 1602766 SCARNA23 small Cajal body-specific RNA 23 12032087,15199136,20227365 677773 NR_003007,AC079375,AJ609482 Hs.689695 ACA12 miscrna 1642104 SCARNA27 small Cajal body-specific RNA 27 16990247 100124533 NR_003703,AL451187 miscrna 1602938 SCARNA3 small Cajal body-specific RNA 3 11387227 677679 NR_002998,AL590723,BK000438 HBI-100 miscrna 1602768 SCARNA4 small Cajal body-specific RNA 4 677771 NR_003005,AL355388,AJ609483 Hs.678903 ACA26 miscrna 1602764 SCARNA5 small Cajal body-specific RNA 5 12032087 677775 NR_003008,AC013726,AY077737 Hs.663619 U87 miscrna 1602767 SCARNA6 small Cajal body-specific RNA 6 12032087 677772 AY077738,NR_003006,AC013726 Hs.689637 U88 miscrna 1602772 SCARNA7 small Cajal body-specific RNA 7 12032087 677767 AY077740,NR_003001,AC078868 Hs.675953 U90 miscrna 1602763 SCARNA8 small Cajal body-specific RNA 8 12032087 677776 NR_003009,AL591206,AY077742 Hs.689635 U92 miscrna 1602604 SCARNA9 small Cajal body-specific RNA 9 15556860,12032087 619383 NR_002569,AP003499,BK005567 Z32|mgU2-19/30 miscrna 2293599 SCARNA9L small Cajal body-specific RNA 9-like (retrotransposed) 16990247 100158262 NR_023358,AL732366 FLJ14503 miscrna 1350717 SCASI spinocerebellar ataxia with saccadic intrusions 11960835 260415 1351812 SCCD Schnyder crystalline corneal dystrophy 7801 1606286 SCCPDH saccharopine dehydrogenase (putative) 17207965,20877624,15166316,16710414,16341674,16303743,15489334,14702039,12477932,10810093 51097 NM_016002,AL591848,CH471148,CQ783258,AF151807,AK075178,AW515488,BC026185,BG258610,BM786495,CR595124,CR601818,CR602614,CR612370,CR618077,CR621491,CR621663,CR620016 ADQ32427,NP_057086,CAH73844,CAH73846,EAW77161,CAF86462,AAD34044,BAC11453,AAH26185,Q5VTK4,Q8NBX0 Hs.498397 CGI-49|FLJ43187|NET11|RP11-439E19.2 probable saccharopine dehydrogenase protein-coding 735301 SCD stearoyl-CoA desaturase (delta-9-desaturase) Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an iron-containing enzyme that catalyzes a rate-limiting step in the synthesis of unsaturated fatty acids. The principal product of SCD is oleic acid, which is formed by desaturation of stearic acid. The ratio of stearic acid to oleic acid has been implicated in the regulation of cell growth and differentiation through effects on cell membrane fluidity and signal transduction. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 and SCD5 (MIM 608370), have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Zhang et al. (1999) [PubMed 10229681]; Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM] 1304415,1580863 19913121,20599700,20628086,10229681,19154947,18952834,18832746,18813799,18697866,18660489,18499418,18340007,18286258,18030445,17852835,17636091,17614770,16723740,16213227,15907797,15855323,15851470,15708362,15662557,15609334,15489334,15164054,14967823,14967817,14683458,12477932,12401889,12061775,11677241,11415448,11397803,11181995,10922050,9373149,9362069,8125298,7909540,6102994,21148,20395685,15610069,16385451,18029348,19130493,19478146,19710915,20032470,20565855 1304415 6319 NM_005063,AF320307,AL139819,CH471066,AB032261,AB208982,AF097514,AF109362,AF132203,AI740935,AK222862,AK312312,BC005807,BC062303,BI827092,BM546583,BU940035,CD245516,CF454075,CR612541,S70284,Y13647 NP_005054,AAK54510,CAH72823,CAH72824,EAW49827,EAW49828,EAW49829,EAW49830,EAW49831,BAA93510,BAD92219,AAD29870,AAQ13510,AAG35549,BAD96582,BAG35237,AAH05807,AAH62303,AAB30631,CAA73998,O00767,Q59GX7 Hs.558396,Hs.597496 FADS5|MSTP008|SCD1|SCDOS OTTHUMP00000020280|acyl-CoA desaturase|delta(9)-desaturase|delta-9 desaturase|delta-9-desaturase|fatty acid desaturase|predicted protein of HQ0998|stearoyl-CoA desaturase opposite strand protein-coding 1349660 SCD5 stearoyl-CoA desaturase 5 Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM] 737633 17468887,16806233,15907797,15610069,12727354,12477932,12815040,20379614,19913121,20628086,20634891,16712791 737633 79966 NM_001037582,NM_024906,AC073413,CH471057,AF389338,AK024685,AL831891,BC004936,BC048971,BC137429,BC137432,CB155881,CR601926,CR621269,CR621321,DB479400,DR763368 NP_001032671,NP_079182,AAY40977,EAX05902,EAX05903,EAX05904,EAX05905,AAP31443,BAB14961,CAD38567,AAH04936,AAH48971,AAI37430,AAI37433,Q86SK9,Q86UC8,Q9BSN4 Hs.379191 ACOD4|FADS4|FLJ21032|HSCD5|SCD2|SCD4 acyl-CoA-desaturase 4|stearoyl-CoA 9-desaturase|stearoyl-CoA desaturase 4|stearoyl-CoA desaturase 5|stearoyl-coa desaturase 4 protein-coding 1344605 SCDP stearoyl-CoA desaturase (delta-9-desaturase) pseudogene 10229681,10229681 10805,645313 AC126365,NG_016706 SCDP pseudo 1312935 SCEL sciellin The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq] 1580863 14632196,11112355,9813070,15274303,12477932,9373149,8889548,8125298,1377656,19211270 8796 NM_003843,NM_001160706,AL137140,CH471093,AF045941,AK025320,AK222720,AK301659,BC020726,BC047536,NM_144777,BM973059,DC372982 NP_659001,NP_003834,NP_001154178,CAH70475,CAH70476,EAW80568,EAW80569,AAC78461,BAD96440,BAH13533,AAH20726,AAH47536,O95171,Q8WW87 Hs.534699 FLJ21667|MGC22531 sciellin protein-coding 1350281 SCFD1 sec1 family domain containing 1 633771,1580863 20562859,12506202,18029348,15489334,15302935,14702039,14565970,12665801,12477932,10048485,9373149,9195952,8125298,11927603,10903204,16169070,15029241,15649705,19176879,19536132,20379614 633771 23256 NM_182835,AL121852,CH471078,AB020724,AF067205,AF086916,AF092139,AF110646,AF319958,AK022127,AK222820,AK290410,AK297873,AK298622,AK299222,AK301406,NM_016106,AK307960,AK308587,AK316212,BC017734,BG028643,BU198450,CA454055,CD697934,CR602903,CR617066,CR622514 NP_057190,NP_878255,EAW65967,EAW65968,BAA74940,AAC17907,AAP97146,AAD40381,AAD48586,AAG50273,BAD96540,BAF83099,BAH12683,BAH12830,BAH12973,BAH13474,BAH14583,AAH17734,Q53GW1,Q8WVM8 Hs.369168 C14orf163|KIAA0917|RA410|SLY1|STXBP1L2 OTTHUMP00000028197|SLY1 homolog|sec1 family domain-containing protein 1|sly1p|syntaxin-binding protein 1-like 2|vesicle transport-related protein protein-coding 1348082 SCFD2 sec1 family domain containing 2 737633,1580863 15489334,14702039,12477932,20395239,20379614 737633 152579 NM_152540,AC023107,AC023154,AC079995,AC098821,AC108153,CH471057,AB074276,AK024713,AK096833,AY299407,BC012458,BC021137,BC032453 NP_689753,EAX05442,EAX05443,BAC04872,AAP57259,AAH12458,AAH21137,AAH32453,Q8WU76,ACT64508,ACT64509 Hs.302287 FLJ21060|FLJ39514|STXBP1L1 sec1 family domain-containing protein 2|syntaxin binding protein 1-like 1|syntaxin-binding protein 1-like 1 protein-coding 734327 SCG2 secretogranin II (chromogranin C) The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq] 1580863 16713569,18721831,20200953,9473216,14970115,17474147,2745426,18549351,18448176,18239671,17584765,16807684,16101435,15815621,15572199,15489334,12788858,12477932,11853870,10678772,10648883,10619397,9709974,9654353,9100282,8825061,8617499,2053134,1425774,16344560 7857 NM_003469,AC012512,AF106540,AF145702,CH471063,AK298828,AK312452,BC022509,M25756,DA271642,NG_027998 NP_003460,AAY24243,EAW70811,BAG60958,BAG35359,AAH22509,AAA36607,P13521 Hs.516726 CHGC|SN|SgII EM66|OTTHUMP00000203781|OTTHUMP00000203782|chromogranin-C|secretogranin 2|secretogranin-2|secretoneurin protein-coding 732003 SCG3 secretogranin III The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. [provided by RefSeq] 14597614,12975309,12533531,12477932,12388744,12098761,8825061,7917832,2053134,14630798,20159242,19150442,18448176,17200173,16303743,15489334,15125023 29106 NM_013243,BI552493,NG_013214,NM_001165257,AC020892,CH471082,AF078851,AF453583,AK075314,AK290175,AK296466,AY359093,BC009511,BC014539,CR597634,CR609040 NP_037375,NP_001158729,EAW77425,EAW77426,AAD44483,AAL67431,BAG52108,BAF82864,BAG59111,AAQ89451,AAH09511,AAH14539,Q8WXD2 Hs.232618 FLJ90833|SGIII secretogranin-3 protein-coding 731406 SCG5 secretogranin V (7B2 protein) 1580863 3134253,7913882,19058789,18448176,17617923,16713569,15489334,15342556,14767469,12646671,12477932,11439082,8617287,8162254,7722516,6625600,3530373,3293987,3234177,2840270,2776483,1989596,16169070,17334394 6447 NM_001144757,NM_003020,AC123768,AJ290438,CH471125,AK314965,BC005349,BC093053,BP377248,CR541824,CR599060,CR617148,CR626061,Y00757 NP_001138229,NP_003011,CAB90397,EAW92261,EAW92262,EAW92263,AAH05349,AAH93053,CAG46623,CAA68726,P05408,Q6FHD0 Hs.156540 7B2|P7B2|SGNE1|SgV OTTHUMP00000215366|OTTHUMP00000215367|OTTHUMP00000215368|neuroendocrine protein 7B2|pituitary polypeptide|prohormone convertase chaperone|secretogranin-5|secretory granule endocrine protein I|secretory granule, neuroendocrine protein 1 (7B2 protein) protein-coding 735247 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) 1580863 20536507,20603037,20677014,20736038,12642831,12477932,19887851,10587371,19263529,19258923,19247692,19225544,19222419,19131662,19128353,19076932,19028820,19019335,18976364,18974840,18818748,18702901,18521628,18316584,18243143,18201431,17957145,17928103,17716718,17703412,17693780,17531233,17507989,17338426,17207022,17094107,16797381,16764982,16703373,16690962,16423471,16387800,16215398,16081627,16061484,15829319,15813809,15744536,15677460,15549500,15489334,15480316,15467329,15297273,15148962,15148333,14990020,14735466,14719079,14669228,14551164,12927696,12204889,12127976,12200800,12100044,12082592,12014016,12003994,11967037,11788998,11774099,11434507,11278724,11258696,11193760,10470078,9643286,9022046,7733299,7664082,7521325,3275712,3167058,1395029,1284526,20664959,16344560,19132521,19423540,19479237,19527514,19559392,19632988,19729601,19789190,19852548,20037209,20237496,20395963,20406964,20438785,20503287,20683434 7356 NM_003357,AP003064,CH471076,U01102,X59875,AK312165,BC004481,CR541780,U01101,X13197,DB196705,NG_021331 NP_003348,EAW74018,AAA18297,CAA42532,BAG35099,AAH04481,CAG46579,AAA81885,CAA31584,P11684,ABM84301,ABM87768 Hs.523732 CC10|CC16|CCPBP|CCSP|UGB|UP-1|UP1 blastokinin|clara cell phospholipid-binding protein|clara cells 10 kDa secretory protein|secretoglobin, family 1a, member 1|urinary protein 1|urine protein 1|uteroglobin protein-coding 1351548 SCGB1C1 secretoglobin, family 1C, member 1 16381901,12477932,12406855,11076863,1915264,15489336,15489334 147199 NM_145651,AC069287,AY026938,BC069287,BC111427,BC111433,BK000201 NP_663626,AAK08972,AAH69287,AAI11428,AAI11434,DAA00358,Q8TD33,CAL37525,CAL38648,CAL38680 Hs.127059 RYD5 ligand binding protein RYD5|secretoglobin RYD5|secretoglobin family 1C member 1 protein-coding 1351140 SCGB1D1 secretoglobin, family 1D, member 1 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq] 1580863 10066439,15489334,12477932,9720917 10648 NM_006552,AP002793,AP003306,CH471076,AJ224171,BC062693,BC069170,BC069289 NP_006543,EAW74007,CAA11863,AAH62693,AAH69170,AAH69289,O95968 Hs.202686 LIPA|LPHA|MGC71958 lipophilin A (uteroglobin family member)|lipophilin-A|prostatein-like lipophilin A|secretoglobin family 1D member 1 protein-coding 1345787 SCGB1D2 secretoglobin, family 1D, member 2 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq] 1580863 10066439,18630503,17163411,15668787,15489334,12576445,12477932,12022875,9720917 10647 NM_006551,AP003306,CH471076,AJ224172,AL708956,BC069290,BC104838,BC104840 NP_006542,EAW74009,CAA11864,AAH69290,AAI04839,AAI04841,O95969 Hs.204096 LIPB|LPHB lipophilin B (uteroglobin family member), prostatein-like|lipophilin-B|prostatein-like lipophilin B|secretoglobin family 1D member 2 protein-coding 1606365 SCGB1D4 secretoglobin, family 1D, member 4 12477932,15340161,15034037,12975309 404552 NM_206998,AP003306,CH471076,AY236538,AY359052,BC130639,BC130645 ADR82780,NP_996881,EAW74011,AAP69948,AAQ89411,AAI30640,AAI30646,Q6XE38 Hs.473247 IFN-gamma inducible SCGB (IIS)|IFN-gamma-inducible secretoglobin|IIS|secretoglobin family 1D member 4 protein-coding 1347983 SCGB2A1 secretoglobin, family 2A, member 1 1580863 18416968,18021217,16166429,16020486,15489334,15151203,12826312,12539042,12477932,12022875,11446459,10066439,9806831,9720917,9504814,19635143,20306663 4246 NM_002407,AP003306,CH471076,AF071219,AJ224173,BC062218,GN341832 NP_002398,EAW74008,AAC79996,CAA11865,AAH62218,O75556,CAY39335 Hs.97644 LPHC|MGB2|MGC71973|UGB3 lacryglobin|lipophilin C|lipophilin-C|mammaglobin 2|mammaglobin B|mammaglobin-2|mammaglobin-B protein-coding 1345224 SCGB2A2 secretoglobin, family 2A, member 2 1580863 20586026,18846421,19217055,19690758,20092039,20306663,18841443,18630503,18451221,18416968,18303409,18289390,18251583,17653857,17192791,17071045,16925986,16761620,16760290,16203799,16110760,15609337,15489334,15447988,15151203,14696125,12539042,12022875,9754584,9488047,9419211,8631025,12477932,20920982 4250 AF015224,NM_002411,AP003306,CH471076,AY217100,BC067220,BC128252,BC128402,U33147 AAC39608,NP_002402,EAW74010,AAO60111,AAH67220,AAI28253,AAI28403,AAC50375,Q13296,Q6NX70 Hs.46452 MGB1|MGC71974|UGB2 mammaglobin 1|mammaglobin A|mammaglobin-1|mammaglobin-A protein-coding 1343531 SCGB3A1 secretoglobin, family 3A, member 1 1580863 11481438,19470737,19258476,19098448,18950845,17623056,17545522,16266985,15489334,15472908,15383627,15340161,14977834,14614327,14601057,12975309,12847263,12727813,12477932,12438750,12406855,12175512,18483325,20496080,19509163 92304 NM_052863,CH471165,AF086152,AF313458,AF436839,AY040564,AY359064,BC029176,BC072673,AC122714 NP_443095,EAW53751,AAL26217,AAQ04481,AAK82942,AAQ89423,AAH29176,AAH72673,Q96QR1 Hs.62492 HIN-1|HIN1|LU105|MGC87867|PnSP-2|UGRP2 cytokine HIN-1|cytokine high in normal-1|high in normal 1|pneumo secretory protein 2|secretoglobin family 3A member 1|uteroglobin-related protein 2 protein-coding 1346821 SCGB3A2 secretoglobin, family 3A, member 2 In addition to regulating thyroid-specific expression of genes, thyroid transcription factor (TITF1; MIM 600635) controls the transcription of genes specifically expressed in lung, such as surfactant proteins (e.g., SFTPA1; MIM 178630) and uteroglobin (UGB; MIM 192020). Mice lacking Ttf1 die immediately after birth from respiratory failure caused by profoundly hypoplastic lungs (Kimura et al., 1996 [PubMed 8557195]). The UGRP1 gene encodes a uteroglobin-related protein and is a downstream target of TITF1.[supplied by OMIM] 19247692,19126779,18201431,18089940,16195814,15591807,15489334,12975309,12847263,12477932,12175512,11813133,11682631,10949149,8557195,15485815,20210668 117156 NM_054023,AB223046,AC011352,AF439544,CH471062,AF313455,AF439545,AY358979,BC024232,AA988559,NG_016867 NP_473364,BAE78654,AAQ04559,EAW61818,AAL26215,AAQ04560,AAQ89338,AAH24232,Q2L6B3,Q96PL1,ABM84019,ABM87364 Hs.483765 LU103|PNSP1|UGRP1 pnSP-1|pneumo secretory protein 1|secretoglobin family 3A member 2|uteroglobin-related protein 1 protein-coding 1604182 SCGBL secretoglobin-like 14702039,12477932 284402 NM_001025591,AC022143,AK093495,BC093909,BC093935,BX105421 NP_001020762,AAH93909,AAH93935,Q4G0G5 Hs.656990 secretoglobin-like protein protein-coding 1347901 SCGN secretagogin, EF-hand calcium binding protein The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq] 1580863 10811645,19084217,17083620,16189514,15766553,15489334,15237930,14702039,14574404,12477932,11709487,19503597,20529129 10590 NM_006998,AL022170,AL512384,CH471087,AF420280,AK094387,AK289477,BC000336,BC003036,BM511122,BQ477463,Y16752 NP_008929,CAI21585,CAH72415,EAW55487,EAW55488,AAL16052,BAF82166,AAH00336,AAH03036,CAA76365,O76038,Q96P10 Hs.116428 CALBL|DJ501N12.8|SECRET|SEGN|setagin calbindin-like|secretagogin protein-coding 1320587 SCHIP1 schwannomin interacting protein 1 10669747,18029348,18311140,17045569,14702039,12477932,11701967,9110174,8619474,15867431,19197348,20190752,20379614,18550753,19913121,20628086 29970 NM_014575,AC021654,AC063955,AC068770,AC092861,AC092943,AC107312,AC131150,CH471052,AF070614,AF145713,AF145714,AF145715,AK091871,AK309223,AK314662,BC005947,BC036535,BX648179,CR593613,CR607011,CR607434,CA431197,DB466706,NM_001197107,NM_001197108,NM_001197109 NP_055390,EAW78659,EAW78660,EAW78661,EAW78662,AAC25386,AAF34241,AAF34242,AAF34243,BAG52432,BAG37220,AAH05947,AAH36535,Q9P0W5,ABM82116,ABM85300,NP_001184036,NP_001184037,NP_001184038 Hs.134665 FLJ39160|SCHIP-1 OTTHUMP00000213675|OTTHUMP00000213676|OTTHUMP00000213678|OTTHUMP00000221996|schwannomin interacting protein 1 variant 1|schwannomin interacting protein 1 variant 2|schwannomin-interacting protein 1 protein-coding 1350815 SCIN scinderin 1580863 15342343,14702039,12853948,12477932,12438125,11572484,9819354,1621245,1331119,18029348,11568009,16344560,16303743,15489334,19666531 85477 NM_033128,AC005281,AC011891,AC073232,CH236948,CH471073,AB067492,AF276507,AK027778,AK075123,AK075198,AK290363,BC021090,CA447429,CA448540,DB196860,NM_001112706 NP_001106177,NP_149119,AAD15423,AAS07450,EAW93645,EAW93646,EAW93647,EAW93648,BAB67798,AAK60494,BAB55361,BAC11416,BAC11465,BAF83052,AAH21090,Q75MG0,Q8NBV9,Q9Y6U3,ABM82959,ABM86150 Hs.633359,Hs.655515 KIAA1905 adseverin protein-coding 1352722 SCKL2 Seckel syndrome 2 11781686 347729 1347820 SCKL3 Seckel syndrome 3 14571270 386616 731355 SCLT1 sodium channel and clathrin linker 1 SCLT1 acts as a linker protein between the voltage-gated sodium channel Na(v)1.8 (SCN10A; MIM 604427) and clathrin (see CLTC, MIM 118955) (Liu et al., 2005 [PubMed 15797711]).[supplied by OMIM] 15797711,14702039,12766061,12477932,20098747,19615732 132320 NM_144643,AC093783,AC093826,CH471056,AK055217,AK093361,AK122852,BC014677,BC040258,BC064428,BC121057,BC121058,BC128051,CD679143,CD691962,CR593773 NP_653244,EAX05167,EAX05168,EAX05169,BAB70876,AAH64428,AAI21058,AAI21059,AAI28052,Q96NL6 Hs.654690 CAP-1A|CAP1A|FLJ30655|FLJ36042|MGC70542|hCAP-1A sodium channel and clathrin linker 1|sodium channel-associated protein 1 protein-coding 1343598 SCLY selenocysteine lyase Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM] 1580863 16925092,14702039,12477932,10692412,6461656,1483038,20379614 51540 NM_016510,AC016757,AC016776,CH471063,AB209458,AF175767,AK001377,AK127520,AK293283,AK298409,AK301009,BC000586,BC007891,BC018966,CR597540,CR597637,CR605720,CR610086,DN995828 NP_057594,AAY24333,AAY24221,EAW71135,EAW71136,EAW71137,EAW71138,EAW71139,BAD92695,AAF36816,BAA91659,BAG56810,BAG60637,BAG62626,AAH00586,AAH07891,Q59FK2,Q96I15,ABM84160,ABM87563 Hs.709612 SCL OTTHUMP00000202726|hSCL|selenocysteine lyase protein-coding 1314031 SCMH1 sex comb on midleg homolog 1 (Drosophila) 1580863 20546612,10524249,18391952,17081983,16713569,16710414,16169070,15489334,14973489,14702039,12477932,12167701,10653359,19266077 22955 NM_012236,AL110502,AL391730,AL606484,CH471059,AF149045,AF149046,AK023124,NM_001031694,AK299383,AK301497,BC009752,BC021252,BX640721,CR457161,CR590672,AA912153,NM_001172218,NM_001172219,NM_001172220,NM_001172221,NM_001172222 NP_001026864,NP_036368,CAI22109,CAI22110,CAI22111,CAI22112,CAI22113,CAH72791,CAH72793,CAH72794,CAH72795,CAH72796,CAH72242,EAX07181,EAX07182,EAX07183,EAX07184,EAX07185,AAF01150,AAF01151,BAG51159,BAG61370,BAG63008,AAH09752,AAH21252,CAE45840,CAG33442,Q96GD3,ABM83593,ABM86837,NP_001165689,NP_001165690,NP_001165691,NP_001165692,NP_001165693 Hs.571874 Scml3 OTTHUMP00000006330|OTTHUMP00000006331|OTTHUMP00000006332|OTTHUMP00000006333|polycomb protein SCMH1 protein-coding 1343784 SCML1 sex comb on midleg-like 1 (Drosophila) 1580863 9570953,18601738,15772651,15489334,12477932 6322 NM_006746,NM_001037535,NM_001037536,CH471074,EU370780,Z93242,AF160728,AK313993,BC009193,BC026159,BC105028,BI461014,BX647757,NM_001037540 NP_001032629,NP_006737,NP_001032624,NP_001032625,EAW98928,EAW98929,EAW98930,EAW98931,EAW98932,ABY68575,CAI42727,CAI42728,CAI42729,CAI42730,AAD47635,BAG36705,AAH26159,AAI05029,Q5H966,Q5H967,Q9UN30,ABZ92430 Hs.109655 OTTHUMP00000025694|sex comb on midleg-like protein 1 protein-coding 1352337 SCML2 sex comb on midleg-like 2 (Drosophila) 1580863 10331946,18706910,15489334,15302935,14702039,12952983,12477932,19615732 10389 NM_006089,AL031007,AL096763,CH471074,Z93023,AK022824,AK299190,AK303064,AK308140,AK315116,AL833937,BC040497,BC051913,BC064617,Y18004,NG_021431,NR_033717 NP_006080,CAI43048,CAI42220,CAI42221,EAW98937,EAW98938,EAW98939,CAI43176,BAG61234,BAG64181,CAD38792,AAH51913,AAH64617,CAB38943,Q5JXE7,Q9UQR0 Hs.495774 sex comb on midleg-like protein 2 protein-coding 1322066 SCML4 sex comb on midleg-like 4 (Drosophila) 18978678,14702039,12477932 256380 AL096816,AL512490,AL512592,CH471051,AB072902,AK074125,AK093571,AK303562,NM_198081,BC021582,BC033286,CR975586,DC410126 NP_932347,CAI42848,CAQ08122,CAQ08123,CAI13632,CAI13633,CAX12112,EAW48393,EAW48394,EAW48395,EAW48396,BAB84951,BAC04198,BAG64585,AAH33286,Q5T0T5,Q8N228,ABZ92125 Hs.486109 FLJ36252|dJ47M23.1 OTTHUMP00000197438|sex comb on midleg-like protein 4 protein-coding 1349086 SCN10A sodium channel, voltage-gated, type X, alpha subunit Voltage-gated sodium channels are integral membrane glycoproteins that are responsible for the initial rising phase of action in most excitable cells. They are composed of a large alpha subunit that may be associated with one or more smaller beta subunits. Sodium channels can be differentiated by their primary structure, kinetics, and relative sensitivity to the neurotoxin tetrodotoxin (TTX). Sodium channels, particularly those with TTX-resistant currents, have been found to accumulate in the region of peripheral nerve injury and may be important in chronic pain. SCN10A encodes a TTX-resistant channel that is restricted to the peripheral sensory nervous system (Rabert et al., 1998 [PubMed 9839820]).[supplied by OMIM] 1580863 21041692,21076409,19953341,9839820,19164297,16598065,16506887,16382098,12591166,10198179,15797711,19233853,19563686,19699781,19877286,20018876,20062060,20062061,20062063,20237269,20379614,20720009 6336 NM_006514,AC116038,AC137625,CH471055,CQ891317,AF117907 NP_006505,EAW64543,CAH68722,AAD30863,Q9Y5Y9,AAI72222 Hs.250443 Nav1.8|PN3|SNS|hPN3 peripheral nerve sodium channel 3|sodium channel protein type 10 subunit alpha|sodium channel protein type X subunit alpha|sodium channel, voltage-gated, type X, alpha polypeptide|voltage-gated sodium channel subunit alpha Nav1.8 protein-coding 1342640 SCN11A sodium channel, voltage-gated, type XI, alpha subunit Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM] 10444332,10623608,16382098,15302875,12536125,12384689,11144347,10580103 11280 NM_014139,AC116038,AC123903,AF126739,CH471055,CS275932,AF109737,AF150882,AF188679,AJ417790,AY686224 NP_054858,AAD53407,EAW64544,EAW64545,EAW64546,CAJ84379,AAF24976,AAF24980,AAF17480,CAD10507,AAT95434,Q9UI33,Q9UKU5,AAI72234 Hs.591657 NAV1.9|NaN|SCN12A|SNS-2 OTTHUMP00000209286|PN5|hNaN|peripheral nerve sodium channel 5|sensory neuron sodium channel 2|sodium channel protein type 11 subunit alpha|sodium channel protein type XI subunit alpha|sodium channel, voltage-gated, type XI, alpha polypeptide|sodium channel, voltage-gated, type XII, alpha polypeptide|sodium channel, voltage-gated, type xi, alpha|voltage-gated sodium channel Nav1.9|voltage-gated sodium channel subunit alpha Nav1.9 protein-coding 1351823 SCN12A sodium channel, voltage-gated, type XII, alpha 10623608 337933 AF109737 735777 SCN1A sodium channel, voltage-gated, type I, alpha subunit The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. 727292,1580863 20522430,20602612,10742094,19586930,19522081,19400878,19350499,19339291,19332696,19292758,19289736,19270815,19236456,19220312,19214208,19200853,19070316,19007941,18930999,18784617,18680191,18655196,18632931,18621678,18566737,18554361,18554360,18554359,18489610,18479393,18451712,18413471,18342948,18330841,18294202,18275929,18251839,18175077,18093548,18076640,18056581,18021921,17928445,17927801,17621480,17565594,17544618,17537961,17507202,17436242,17397047,17347258,17065438,17054685,17054684,17030758,17001291,16713920,16541393,16505326,20879882,20117752,11823106,11779698,11756608,11579435,11524484,11359211,11295230,11254445,11254444,10514109,8062593,2429308,1317301,9412493,16430863,16382098,16380441,16326807,16210358,16054936,15880351,15715999,15525788,15508916,15277629,15263074,15249644,15087100,14738421,14702039,14672992,14504318,13129592,12919402,12837571,12821740,12773292,12754708,12742596,12610651,12566275,12086636,12083760,11940708,20484682,20194124,20506560,20431604,19402159,19464195,19464834,19469841,19585586,19589774,19673951,19694741,19782004,19949041,20037572,20038948,20064729,20410126,20447868,20477842,19099883,20630778,19563458,20682179,20452746 727292 6323 NM_006920,NG_011906,AC010127,CH471058,S71446,AB093548,AB093549,AB098335,AF225985,AK094487,AK293759,AK294900,AY043484,M91803,X65362,NM_001165963,NM_001165964,NM_001202435 NP_008851,AAX81984,EAX11318,EAX11319,AAB31605,BAC21101,BAC21102,BAC45228,AAK00217,BAG57178,BAG57989,AAK95360,CAA46439,P35498,Q8IUJ6,NP_001159435,NP_001159436,NP_001189364 Hs.22654 FEB3|FEB3A|GEFSP2|HBSCI|NAC1|Nav1.1|SCN1|SMEI OTTHUMP00000041051|OTTHUMP00000205012|sodium channel protein brain I subunit alpha|sodium channel protein type 1 subunit alpha|sodium channel protein type I subunit alpha|sodium channel protein, brain I alpha subunit|sodium channel, voltage-gated, type I, alpha polypeptide|voltage-gated sodium channel subunit alpha Nav1.1 protein-coding 1350483 SCN1B sodium channel, voltage-gated, type I, beta Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM] 1580863 20602612,9697698,8394762,19522081,19270815,18755274,18464934,18175077,18093548,18052691,17927801,17629415,17604911,16205844,16052353,15489334,14622265,14504340,12677453,12486163,12477932,12011299,11997395,11744748,11470829,8125980,7851891,6319405,14761957,19710327,19808477,19861310,20137763,20226894 6324 BM805468,BT019923,L10338,L16242,NM_001037,NM_199037,AC020907,DQ677665,U12193,AK295477,AK313279,AY391842,BC021266,BC030193,BC067122,BC112922,BF194996,NG_013359 AAV38726,AAA60391,AAA61277,Q07699,Q2KHR9,Q5TZZ4,Q6TN97,Q8WU42,NP_001028,NP_950238,ABQ01236,AAB97608,BAG58404,BAG36087,AAR25552,AAH21266,AAH67122,AAI12923 Hs.436646 GEFSP1 sodium channel beta-1 subunit|sodium channel subunit beta-1 protein-coding 1354096 SCN2A sodium channel, voltage-gated, type II, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 20602612,1325650,19401682,19270815,19129176,18784617,18479388,17805013,17715289,17641256,17544618,17467289,17386050,16914293,16847056,16464983,16417554,16382098,16344560,20346423,16052353,15342556,15316014,15249644,15048894,15028761,12930796,12610651,12477932,12243921,12165424,11738931,11371648,11326335,11245985,11000491,10486327,10344788,8889548,2571571,1846440,1317301,14761957,15681389,12036953,16169070,16652168,19465131,19694741,19738391,19743470,19783390,19786696,20371507,20379614 6326 NM_001040142,NM_021007,NM_001040143,NG_008143,AC011303,AC013438,AF059683,AF327228,AF327246,CH471058,M55662,AB208888,AK289656,AL137498,BC029489,BC047398,BC048417,BP199510,BP311214,BU729783,DA232976,M91804,M94055,X65361 NP_001035232,NP_066287,NP_001035233,AAY14971,AAC14574,AAG53412,AAG53413,EAX11328,EAX11329,EAX11330,AAB65854,BAD92125,BAF82345,AAA18895,CAA46438,Q59H71,Q99250,ACX32328 Hs.93485 BFIC3|HBA|HBSCI|HBSCII|NAC2|Na(v)1.2|Nav1.2|SCN2A1|SCN2A2 HBSC II|OTTHUMP00000041050|sodium channel protein brain II subunit alpha|sodium channel protein type 2 subunit alpha|sodium channel protein type II subunit alpha|sodium channel protein, brain type 2 alpha subunit|sodium channel, voltage-gated, type 2, alpha 1 polypeptide|sodium channel, voltage-gated, type II, alpha 1 polypeptide|sodium channel, voltage-gated, type II, alpha 2 polypeptide|voltage-gated sodium channel subtype II|voltage-gated sodium channel subunit alpha Nav1.2 APPROVED protein-coding 736397 SCN2B sodium channel, voltage-gated, type II, beta 1580863 9295116,16344560,15833746,15489334,14702039,12975309,12477932,10198179,9887383,8521473,7566098,6319405,19808477,20226894,20379614 6327 NM_004588,AF049497,AP002800,CH471065,AF007783,AF049498,AF107028,AK090729,AK094643,AK308834,AK313891,AY358945,BC036793,BQ574152,BT019487,CR595040,CR625871,DA290917,T30974,U87555 NP_004579,AAC05208,EAW67353,AAC26013,AAC05274,AAD47196,BAG36614,AAQ89304,AAH36793,AAV38294,AAF21472,O60939,Q5U0K8,ABM83352,ABM83560,ABM86566 Hs.129783 neuronal voltage-gated sodium channel beta 2 subunit|sodium channel beta 2 subunit|sodium channel subunit beta-2|sodium channel, voltage-gated, type II, beta polypeptide protein-coding 736601 SCN3A sodium channel, voltage-gated, type III, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9589372,18784617,17544618,16382098,16344560,16052353,16029190,15317864,12610651,11566500,11245985,11122339,10827173,10718198,8889548,8159690,20346423,19699781,20379614 6328 AF225987,AF239921,AJ251507,AJ276139,AJ276140,AJ277394,AK299757,AK301853,AL079365,BM681920,DA772987,DA796981,NM_001081676,NM_001081677,AC013463,AF330135,CH471058,S69887,AB037777,AF035685,AF035686,AF225986,NM_006922 AAK00218,AAK00219,AAF44690,CAB85895,CAC03582,CAC03583,CAC03586,BAG61646,BAG63295,Q9C007,Q9GZM4,Q9NY46,NP_008853,NP_001075145,NP_001075146,AAY15072,AAG53414,AAG53415,EAX11331,EAX11332,EAX11333,EAX11334,EAX11335,AAB30530,BAA92594,AAC29514,AAC29515 Hs.435274 KIAA1356|NAC3|Nav1.3 OTTHUMP00000204827|brain III voltage-gated sodium channel|sodium channel protein brain III subunit alpha|sodium channel protein type 3 subunit alpha|sodium channel protein type III subunit alpha|sodium channel, voltage-gated, type III, alpha polypeptide|voltage-gated sodium channel subtype III|voltage-gated sodium channel subunit alpha Nav1.3 protein-coding 1350710 SCN3B sodium channel, voltage-gated, type III, beta Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 633985,1580863 10688874,11256614,19385982,16415175,16381901,16344560,15489336,15489334,15342556,15334053,15232296,14702039,12477932,12220575,11470829,11230166,11212211,11076863,10574461,20558140,21051419,19596049,19808477,20042427,20226894,20675377 633985 55800 NM_001040151,AP002765,CH471065,AB032984,AJ243396,AK055033,AK314513,AL136589,BC045704,BC117282,BC126265,BP202832,BX106794,CR609664,DA327760,DA806480,NM_018400,DQ677666,NG_016283 NP_060870,NP_001035241,EAW67550,EAW67551,EAW67552,BAA86472,CAB76825,BAG37113,CAB66524,AAI17283,AAI26266,Q9NY72,CAL38175,ABQ01237,ADR82877 Hs.4865 HSA243396|SCNB3 sodium channel subunit beta-3|voltage-gated sodium channel beta-3 subunit protein-coding 732165 SCN4A sodium channel, voltage-gated, type IV, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq] 1580863 20713951,10218481,1338909,19347921,19211598,19118277,19015483,18726720,18690054,18337730,18281721,18270170,18166706,18079277,18046642,17998485,17898326,17823953,17804458,17334961,17212350,17151947,16890191,16870577,16506889,16392038,16382098,15790667,15596759,15482957,15459238,15318338,15072700,14527681,12766226,12210802,11591859,11558801,10944223,10851391,10599760,10366610,9521881,9392583,9164815,8580427,8575757,8388676,8385647,8308722,8242056,8058156,8044656,2173143,1851726,1659948,1659668,1654742,1339144,1316765,1315496,1310898,1310531,1310396,9677412,15746172,21043388,16637659,19077043,19290024,19773279,19840739,19881885,19882638,20038812,9412493 6329 L04234,L04235,L04236,S82622,U24693,AY212253,M81758,NG_011699,AC127029,AF038871,CH471109,L01983,L04216,L04217,L04218,L04219,L04220,L04221,L04222,L04223,L04224,L04225,L04226,L04227,L04228,L04229,L04230,L04231,L04232,L04233,NM_000334 AAB21450,AAC14673,AAO83647,AAA60554,O60217,P35499,Q9H3L9,AAI72375,NP_000325,AAG43105,EAW94225,EAW94226,AAA75557,AAB59624 Hs.46038 HOKPP2|HYKPP|HYPP|NAC1A|Na(V)1.4|Nav1.4|SkM1 skeletal muscle voltage-dependent sodium channel type IV alpha subunit|sodium channel protein skeletal muscle subunit alpha|sodium channel protein type 4 subunit alpha|sodium channel protein type IV subunit alpha|voltage-gated sodium channel subunit alpha Nav1.4 protein-coding 735494 SCN4B sodium channel, voltage-gated, type IV, beta The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene. 1580863 12930796,18941776,17592081,16344560,15489334,14702039,12477932,1293796,19808477,20226894,21051419 6330 NM_174934,NM_001142349,NR_024527,NG_011710,AP002800,CH471065,EF445029,AK090713,AK092285,AK124886,AK314531,AY149967,BC035017,BX538328,DA109496,DA111034,DA211092,DA247019,DB101246,NM_001142348,DB237478 NP_001135820,NP_777594,NP_001135821,EAW67351,EAW67352,ACA06071,BAG37123,AAN74584,AAH35017,Q8IWT1 Hs.65239 sodium channel beta-4 subunit|sodium channel subunit beta-4 protein-coding 731255 SCN5A sodium channel, voltage-gated, type V, alpha subunit The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq] 735235,1358572,1580008,1580502,1580863 19913121,20384651,20586826,20628086,10618304,10590249,10532948,10508990,10471492,10377081,10200053,9686753,9506831,9412493,8917568,8621719,8567977,8541846,7956363,7842012,1309946,20875080,20920651,21048329,21063070,21070882,20539757,20651255,20609320,20618077,20090423,15504354,15466643,15367556,15338453,15316014,15306732,15277732,15217910,15176425,15161528,15057319,15051636,14985827,14961552,14760488,14720472,14654377,14523039,14500339,12820704,12673799,12639704,12574983,12569159,12522116,12477932,12471205,12454206,12431447,12429735,12358675,12208804,12193783,12106943,12051963,11997281,11960580,11901046,11889015,11823453,11804990,11786529,11748104,11743032,11710892,11410597,11289718,11234013,11136691,10973849,10940383,10911008,10690282,17060380,7651517,7889574,9521325,19412328,19389651,19376164,19324308,19322600,19305639,19305409,19305408,19302788,19251209,19171938,19167345,19149796,19121811,19083750,19075524,19074138,19056759,19027780,19026623,18977767,18929331,18929244,18848812,18803136,18752142,18708744,18690024,18676988,18674739,18657562,18596570,18591664,18503232,18456723,18452875,18452871,18451998,18436145,18426444,18408010,18393272,18378609,18368697,18362431,18355654,18252757,18245395,18184654,18156160,18088563,18071069,18065446,18048769,18040022,17967977,17928536,17905336,17901361,17897635,17854786,17697823,17675083,17605181,17556197,17548620,17544529,17534376,17510181,17496023,17363383,17331104,17275752,17227473,17210841,17210839,17205354,17198989,17185997,17161064,17141278,17075016,17070808,16980337,16930557,16880338,16877553,16873405,16864729,16857961,16847056,16818214,16771953,16731473,16728661,16674915,16643374,16637659,16632547,16616735,16505387,16469732,16453024,16426410,16415376,16414944,16382098,16344400,16325048,16301357,16266370,16254012,16207794,16188595,16132053,16115203,16061851,16061744,16054936,15996170,15910881,15863661,15851320,15851227,15851119,15840476,15828879,15808832,15805167,15746172,15671429,15665061,15579534,15534720,10627139,20372843,20395683,20174578,15548568,16169070,18616619,19255801,19272188,19279232,19318916,19340536,19345130,19377070,19549036,19551538,19632628,19661462,19666841,19698999,19706159,19716085,19719504,19745168,19808398,19808432,19808664,19822451,19841300,19843919,19843921,19861310,19948241,20004937,20009079,20031634,20038812,20062060,20062063,20102920,20108749,20110800,20116193,20147455,20201937,20339117,20379614,20386770,20400777,20403459,20470418,21076026,21126620,20025708,19845816,20724705,21076409 735235,1358572,1580008,1580502 6331 NM_198056,NM_000335,NM_001099405,NM_001099404,NM_001160160,NM_001160161,NG_008934,AP006241,CH471055,DQ086162,DQ784809,AB158469,AB208866,AF482988,AJ310886,AJ310887,AJ310888,AJ310889,AJ310890,AJ310891,AJ310892,AJ310893,AJ310894,AJ310895,AJ310896,AY038064,AY148488,BC051374,BC140813,BC144621,BU845010,EF092293,EF092294,EF092295,EF629346,AB158470,M77235,EF629347,EF179185 NP_932173,NP_000326,NP_001092875,NP_001092874,NP_001153632,NP_001153633,EAW64540,EAW64541,EAW64542,AAZ06802,ABQ01244,BAD12084,BAD12085,BAD92103,AAO91669,CAC84529,CAC84530,CAC84531,CAC84532,CAC84533,CAC84534,CAC84535,CAC84525,CAC84536,AAK74065,AAN61120,AAH51374,AAI40814,AAI44622,ABN50062,ABN50063,ABN50064,ABR15763,ABR15764,AAA58644,Q14524,Q2QFB5,Q59H93,Q86V90,Q8WTQ6,Q8WTS0,Q8WWN5,Q8WWN6,ACX32327,ABN05288 Hs.517898 CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1 OTTHUMP00000209279|OTTHUMP00000209280|OTTHUMP00000209281|OTTHUMP00000209282|OTTHUMP00000209283|OTTHUMP00000209284|cardiac sodium channel alpha subunit|cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit|sodium channel protein cardiac muscle subunit alpha|sodium channel protein type 5 subunit alpha|sodium channel protein type V alpha subunit|sodium channel protein type V subunit alpha|voltage-gated sodium channel subunit alpha Nav1.5 protein-coding 1601888 SCN7A sodium channel, voltage-gated, type VII, alpha 1846440,1317577,18029348,17339538,14669210,12477932,11144347,10198179,8889548,8188276,7874451,19451621 6332 NM_002976,AC074101,AC092583,CH471058,AK308450,BC062699,BC141864,CF129950,M91556,S75992 NP_002967,EAX11312,EAX11313,AAA59899,AAD14203,Q01118,Q16278 Hs.635368 SCN6A OTTHUMP00000205008|putative voltage-gated sodium channel subunit alpha Nax|sodium channel protein cardiac and skeletal muscle subunit alpha|sodium channel protein type 7 subunit alpha|sodium channel protein type VII subunit alpha|sodium channel, voltage-gated, type VI, alpha polypeptide|sodium channel, voltage-gated, type VII, alpha polypeptide|voltage-dependent sodium channel alpha subunit protein-coding 1351349 SCN8A sodium channel, voltage gated, type VIII, alpha subunit Voltage-dependent sodium channels, such as SCN8A, are responsible for the initial membrane depolarization that occurs during generation of action potentials in most electrically excitable cells (Plummer et al., 1998 [PubMed 9828131]).[supplied by OMIM] 1580863 20632842,20421839,9828131,19352218,19136557,18812204,18718804,17881658,17805013,16775201,16702217,16382098,16014723,15676283,15302875,15282281,10779552,10066808,9295353,7670495,20204400,20351042,20379614 6334 AB037525,AC013421,AC025097,AC068987,AC140060,AF049618,AF050711,AF050712,AF050713,AF050714,AF050715,AF050716,AF050717,AF050718,AF050719,AF050720,AF050721,NM_014191,AF050723,AF050724,AF050725,AF050726,AF050727,AF050728,AF050729,AF050730,AF050731,AF050732,AF050733,AF050734,AF050735,AF050736,CH471111,AB027567,AF225988,AJ276141,AJ276142,AJ277395,AJ310884,AJ310885,AJ310898,AK309213,AY510083,AY682081,AF050722,AY682082,AY682083,FJ611941,NG_021180,NM_001177984 NP_055006,BAA90445,AAD20439,AAD15789,EAW58197,EAW58198,EAW58199,EAW58200,EAW58201,EAW58202,BAA78033,AAF35390,CAC03584,CAC03585,CAC03587,CAC84527,CAC84528,CAC84538,AAS89692,AAT85830,AAT85831,AAT85832,ACM63162,Q6B4S2,Q6B4S3,Q6B4S4,Q8WWN3,Q9GZR0,Q9P2Q6,Q9UQD0,NP_001171455 Hs.710638 CERIII|CerIII|MED|NaCh6|Nav1.6|PN4 hNa6/Scn8a voltage-gated sodium channel|sodium channel protein type 8 subunit alpha|sodium channel protein type VIII subunit alpha|voltage-gated sodium channel subunit alpha Nav1.6 protein-coding 737151 SCN9A sodium channel, voltage-gated, type IX, alpha subunit This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq] 1599515,1599517,1580863 20529324,20074229,14985375,20635406,20628234,7720699,19304393,18978189,18945915,18803825,18676988,18599537,18518989,18439623,18426592,18347287,18337362,18171466,18079277,18070140,18070139,18060017,18036246,17985268,17950472,17928139,17597096,17470132,17430993,17410110,17404832,17294067,17167479,17135418,17008310,16988069,16392115,16382098,16216943,16088330,15958509,15955112,15929046,15385606,15302875,15178348,9169448,8889548,11283792,10198179,20429905,19557861,19633428,19699781,19763161,19800314,20033988,20038812,20146699,20212137,20379614,20478850 1599515,1599517 6335 AC074101,NM_002977,NG_012798,AC107082,AC108146,AJ580918,AJ580919,CH471058,DQ148960,AJ277393,AJ310882,AJ310883,AJ310897,AK307549,AL517958,AY682084,AY682085,AY682086,BU742924,DQ857292,X82835 NP_002968,AAY14794,CAE45644,CAE45645,EAX11314,EAX11315,EAX11316,AAZ77737,CAC84550,CAC84551,CAC84537,AAT85833,AAT85834,AAT85835,ABI51981,CAA58042,Q15858,Q3YAA2,Q53QP0 Hs.439145 ETHA|FEB3B|NE-NA|NENA|Nav1.7|PN1 OTTHUMP00000204933|OTTHUMP00000204936|hNE-Na|neuroendocrine sodium channel|peripheral sodium channel 1|sodium channel protein type 9 subunit alpha|sodium channel protein type IX subunit alpha|sodium channel, voltage-gated, type IX, alpha polypeptide|voltage-gated sodium channel alpha subunit Nav1.7|voltage-gated sodium channel subunit alpha Nav1.7 protein-coding 1319050 SCNM1 sodium channel modifier 1 1580863 16710414,16189514,15489334,14702039,12920299,12477932,7566098,18482256 79005 AA374943,AI791817,AK056322,AK301644,BC000264,BF669691,CR607615,CR620396,CH471121,NM_024041,AL592424 EAW53466,BAB71149,BAG63123,AAH00264,Q9BWG6,ABM83457,ABM86668,NP_076946,CAI16381,CAI16382 Hs.432360 MGC3180 OTTHUMP00000014262|sodium channel modifier 1 protein-coding 736324 SCNN1A sodium channel, nonvoltage-gated 1 alpha Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1624161,1624117,1580863 19913121,20536507,20577119,20628086,11244092,8589714,19619703,19559392,19541605,19527514,19479237,19462466,19359370,19263529,19238444,19131662,19019335,19017867,18990692,18818748,18801933,18703878,18665318,18660489,18634878,18547339,18513389,18355814,17905853,17766193,17596527,17537777,17460608,17434346,17381423,17170520,17020471,16912051,16463024,16423824,16373340,16344560,16172422,15853823,15755725,15746174,15596218,15498559,15489334,15328345,15308680,15169674,15069064,14556380,12923071,12562778,12477932,12167593,12107247,12082592,11756432,11752024,11696533,11675945,11359767,20709758,21048031,20194130,11266509,10642508,10586178,10447117,10409621,10404817,10212229,9654208,9612219,9575806,9169421,8986818,8889548,8278374,8023962,7896277,18632802,18322022,14996668,17502380,18298571,19300301,19423540,19561078,19617352,19619128,19720813,19763606,19773279,19858199,19864429,19925887,19948975,20054153,20078945,20098615,20106988,20406964,20424473,20438785,20484876 1624161,1624117 6337 NM_001038,NG_011945,NM_001159575,NM_001159576,AC005840,AC006057,AF060913,CH471116,FJ515830,L29007,U81961,Z92978,AK025536,AK172792,AK304379,AY365119,BC006526,BC037417,BC062613,BU680600,DB232484,DQ402522,X76180 NP_001029,NP_001153047,NP_001153048,AAD28355,EAW88803,EAW88804,ACS13719,ACS13720,ACS13721,ACS13722,AAA21813,AAC31773,AAC31774,CAB07505,BAG65217,AAQ67341,AAH06526,AAH62613,ABD72218,CAA53773,P37088,Q6UP09 Hs.591047 BESC2|ENaCa|ENaCalpha|FLJ21883|SCNEA|SCNN1 alpha ENaC-2|alpha-ENaC|alpha-NaCH|amiloride-sensitive epithelial sodium channel alpha subunit|amiloride-sensitive sodium channel subunit alpha|amiloride-sensitive sodium channel subunit alpha 2|epithelial Na(+) channel subunit alpha|nasal epithelial sodium channel alpha subunit|nonvoltage-gated sodium channel 1 subunit alpha protein-coding 734263 SCNN1B sodium channel, nonvoltage-gated 1, beta Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq] 737753,1624136,1624161,1624117,1580863 19913121,20628086,17560176,17510235,17460608,17434346,17381423,17241874,16943574,16579800,16463024,16432044,16423824,15853823,15661075,15596218,15489334,15483078,15328345,15327619,15198480,15188166,14761957,14553964,12714866,12562778,12477932,12473861,12204893,12180079,12167593,12107247,11997395,11934701,11906720,11863256,11845306,11826291,11567041,11470829,11375929,11359767,11181995,10845103,10642508,10506918,10493829,10404817,10212229,17586416,9118951,11244092,19462466,19017867,18990692,18665318,18639284,18507830,18443236,18398334,18184758,18004211,17766193,9813171,9794716,9674649,9626162,9169421,8986818,8601645,8589714,8524790,8521520,7954808,7762608,7550319,7499195,7490094,18322022,14996668,14645214,17502380,19300301,19344079,19359370,19520916,19763606,19948975,20106988,20424473 737753,1624136,1624161,1624117 6338 NM_000336,NG_011908,AC008915,AC130452,AF260228,AJ005383,AJ005384,AJ005385,AJ005386,AJ005387,AJ005388,AJ005389,AJ005390,AJ005391,AJ005392,AJ005393,CH471145,U16023,AF260226,AK313192,AU105979,BC036352,DQ402523,L36593,X87159,FJ515831 NP_000327,AAL48196,AAL48197,CAA06508,EAW55833,EAW55834,AAA67036,AAK49394,BAG36009,AAH36352,ABD72219,AAA75459,CAA60632,P51168,Q8WY56,Q8WY57,ACE87303,ACE86622,ADR82661,ACS13724 Hs.414614 BESC1|ENaCb|ENaCbeta|SCNEB amiloride-sensitive sodium channel subunit beta|amiloride-sensitive sodium channel subunit beta 1|beta-ENaC|beta-NaCH|epithelial Na(+) channel subunit beta|epithelial sodium channel beta-2 subunit|epithelial sodium channel beta-3 subunit|nasal epithelial sodium channel beta subunit|nonvoltage-gated sodium channel 1 subunit beta protein-coding 1346343 SCNN1D sodium channel, nonvoltage-gated 1, delta 1580863 19913121,20628086,7499195,18951889,18073141,17472699,16930535,16710414,16423824,15489334,15308635,15084585,14726523,14702039,14645214,12477932,8661065,19520916,18298571,19359370,19717556,20631247,8889548 6339 NM_001130413,AL162741,CH471183,AA617657,AK093239,AK093372,AK127357,AK131558,AK315288,BC036752,BC040882,BC071784,BC125074,BC125075,DQ898175,DQ898176,EU489064,U38254,NM_002978,AA622685,BU729671,BX424308,NR_037668 NP_002969,NP_001123885,CAI23261,CAI23262,CAI23263,EAW56251,EAW56252,EAW56253,EAW56254,BAC04105,BAG52699,BAG54495,BAD18692,AAH36752,AAI25075,ABI64068,ABI64069,ACA51868,AAC50283,P51172,Q09HT0,Q09HT1,Q6ZMN3,AAI25076,CAI23260 Hs.512681 ENaCd|ENaCdelta|MGC149710|MGC149711|SCNED|dNaCh OTTHUMP00000002084|amiloride-sensitive sodium channel subunit delta|delta-ENaC|delta-NaCH|epithelial Na(+) channel subunit delta|nonvoltage-gated sodium channel 1 subunit delta|sodium channel, voltage-gated, type I, delta polypeptide protein-coding 732847 SCNN1G sodium channel, nonvoltage-gated 1, gamma Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq] 737754,1624147,1580863 19913121,20628086,8640238,11244092,8521520,19462466,19073825,19017867,18990692,18981180,18665318,18443236,17998393,17766193,17698725,17560176,17510235,17460608,17434346,17381423,17241874,17199078,16716084,16630545,16463024,16423824,16172412,15864129,15702377,15661075,15596218,15489334,15328345,15198480,15188166,14996668,18507830,12548396,12477932,12473862,12167593,12107247,11906720,11845306,11805112,11463765,11180614,10727408,10642508,10404817,10391210,9351815,9169421,8986818,8824247,7762608,7550319,7499195,7490094,18498246,18632802,18322022,20376790,10212229,10409621,11359767,12562778,14645214,17502380,19300301,19359370,19561078,19763606,19779464,19948975,20106988 737754,1624147 6340 U48936,X87160,NG_011909,AC099482,NM_001039,AF356502,CH471145,U35630,U48937,U53836,U53837,U53839,U53841,U53844,U53845,U53846,U53847,U53848,U53849,U53850,U53852,U53853,BC059391,BC069652,DQ402524,L36592,FJ515832 AAA75460,AAC50737,CAA60633,P51170,Q6LCK3,Q6LCK4,Q6LCK5,Q6LCK6,NP_001030,AAK50910,EAW55837,EAW55838,AAC50217,AAC50744,AAC50745,AAC50747,AAC50749,AAC50752,AAC50753,AAC50754,AAC50755,AAC50756,AAC50757,AAC50758,AAC50760,AAC50761,AAH59391,AAH69652,ABD72220,ACS13725 Hs.371727 BESC3|ENaCg|ENaCgamma|PHA1|SCNEG ENaC gamma subunit|amiloride-sensitive epithelial sodium channel gamma subunit|amiloride-sensitive sodium channel gamma-subunit|amiloride-sensitive sodium channel subunit gamma|epithelial Na(+) channel subunit gamma|gamma-ENaC|gamma-NaCH|nonvoltage-gated sodium channel 1 subunit gamma protein-coding 1344696 SCO1 SCO cytochrome oxidase deficient homolog 1 (yeast) Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq] 1599513,1580863 19913121,20628086,2835635,9878253,19336478,19295170,18458339,17189203,16735468,16520371,16344560,16091356,15659396,15489334,15229189,12477932,11579424,11027508,11013136,10545952,10218584,9110174,8889548,8619474,20877624,2543907,19465909 1599513 6341 NM_004589,NG_008228,AC002347,AF295386,CH471108,AF026852,AF131816,AF183424,AK074588,AK098826,AK315595,BC015504,BM981070,BM994602,CR593722,CR611401,CR615183,CR620606,CR621918,CR624800,DA571370 NP_004580,AAG23836,EAW89997,AAD08641,AAD20051,AAG09693,BAG51973,BAG37967,AAH15504,O75880,ABM82531,ABM85724 Hs.14511 SCOD1 protein SCO1 homolog, mitochondrial protein-coding 1347479 SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog of the yeast SCO2 gene. [provided by RefSeq] 1580020,1580863 10545952,19353431,19336478,18924171,18332255,18254779,17850752,17189203,16728594,16091356,16083427,15489334,15461802,15229189,15146197,14994243,12538779,12529303,12477932,12020273,11931660,11751685,11673586,10749987,10218584,19913121,20628086,16341674,20193760,20139978,19879173 1580020 9997 NM_005138,AF177385,AL021683,BC102024,BC102025,BQ878572,CN409692,CR456569,BG392981,BM787182,NG_016235,NM_001169109,NM_001169110,NM_001169111 NP_005129,AAF05313,CAA16671,AAI02025,AAI02026,CAG30455,O43819,CAK54599,CAK54898,NP_001162580,NP_001162581,NP_001162582 Hs.180903 MGC125823|MGC125825|SCO1L OTTHUMP00000196774|OTTHUMP00000196775|cytochrome oxidase deficient homolog 2|protein SCO2 homolog, mitochondrial protein-coding 1323537 SCOC short coiled-coil protein This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 16344560,15146197,14702039,12477932,11303027,16484223,20379614,17207965 60592 NM_001153446,NM_001153484,NM_001153552,NM_001153585,NM_001153635,NM_001153663,NM_001153690,AC093671,AC114771,CH471056,NM_032547,AA213765,AB015335,AF330205,AF448857,AK027797,AK092794,AL133580,BC016511,BC062684,BG151522,BU070009,CN367654,CR594454,CR595594,CR597979,CR599465,CR600463,CR601810,CR605728,CR608866,CR611757,CR618746,CR619629,CR620438,DA625782,DA695503,DB204055,DB465370 NP_115936,NP_001146918,NP_001146956,NP_001147024,NP_001147057,NP_001147107,NP_001147135,NP_001147162,EAX05102,EAX05103,EAX05104,BAA88116,AAK01707,AAP97732,BAB55375,AAH16511,AAH62684,Q9UIL1,ADQ32078 Hs.480815 HRIHFB2072|SCOCO OTTHUMP00000220123|OTTHUMP00000220124|OTTHUMP00000220125|short coiled coil protein|short coiled-coil protein protein-coding 1349372 SCOCP1 short coiled-coil protein pseudogene 1 317767 NG_011824,AL163853 pseudo 733061 SCP2 sterol carrier protein 2 This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq] 1580863 19913121,20628086,20677014,15182174,1703300,19020914,18465878,17418802,15489334,15449949,14661971,14563822,12641450,12477932,12356316,11591437,10856712,1483685,20656919,16756494,10706581,10623549,10585412,10567245,10529196,10412765,10407148,10341103,9048555,8640304,8300590,8243660,8063752,8004106,7788802,7698762,7654720,2294101,1755959,1718316,19598235,17207965,18029348,20877624 6342 AA664009,CA867670,DB459183,DC330171,NM_001193599,NM_001193600,NM_001193617,S52450,NM_001007098,NM_001007099,NM_001007250,NM_001007100,NG_012211,AC099677,AL445183,CH471059,U11313,AB208789,AK294631,AK295214,AK303400,AK308105,AK312856,BC005911,BC067108,BG028932,BG432929,BX537618,BX537619,CR594806,CR595480,CR612478,CR618704,CR620432,M55421,M75883,M75884,NM_002979 NP_001180528,NP_001180529,NP_001180546,AAB24921,P22307,Q59HG9,Q6NXF4,NP_002970,NP_001007099,NP_001007100,NP_001007251,NP_001007101,CAH72590,EAX06760,EAX06761,EAX06762,AAB41286,BAD92026,BAG57810,BAG58208,BAG64455,BAG35708,AAH05911,AAH67108,AAA03559,AAA03557,AAA03558,ADQ32600 Hs.476365,Hs.709369 DKFZp686C12188|DKFZp686D11188|NLTP|NSL-TP|SCP-2|SCP-CHI|SCP-X|SCPX SCP-2|SCP-X|SCP-chi|non-specific lipid-transfer protein|nonspecific lipid-transfer protein|propanoyl-CoA C-acyltransferase|sterol carrier protein X protein-coding 1351146 SCPEP1 serine carboxypeptidase 1 70518,1580863 15489334,15340161,14702039,12975309,12754519,12477932,11447226,17207965 70518 59342 AF282618,AK027373,AK092928,AK298161,AY358559,BC010078,BC072405,CR609709,CR614420,CR625202,DC344612,NM_021626,AC004584,AC007114,CH471109,AF113214,AF265441 AAG16692,BAB55069,BAG60434,AAQ88923,AAH72405,Q9H2J9,Q9HB40,AAG44699,NP_067639,EAW94520,EAW94521,AAG39285,ADQ32066 Hs.514950 HSCP1|RISC retinoid inducible serine carboxypeptidase|retinoid-inducible serine carboxypeptidase|serine carboxypeptidase 1 precursor protein protein-coding 68543 SCRG1 stimulator of chondrogenesis 1 Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. [provided by RefSeq] 9660755,16199891,16188469,15340161,12975309,12477932,9516475 11341 NM_007281,AC093849,AC097534,AX002933,AX002935,CH471056,AJ224677,AK312146,AY359040,BC017583,BC067829,CR542142 NP_009212,EAX04752,EAX04753,EAX04754,CAA12059,BAG35081,AAQ89399,CAG46939,O75711,Q6FGG5,AAI52792 Hs.7122 MGC26468|SCRG-1 scrapie responsive gene 1|scrapie responsive protein 1|scrapie-responsive gene 1 protein|scrapie-responsive protein 1 protein-coding 1321471 SCRIB scribbled homolog (Drosophila) 2293492 20939435,15182672,18793635,19386766,19615732,19959811,15231747,19555689,19041750,18716323,18661220,18641685,18513328,18042258,20622900,20702615,17509663,17081983,17043654,16965391,16964243,16619250,16611247,16482544,16344308,16137684,16103886,15975580,15806148,15775968,15649318,15489334,15345747,15302935,15261375,15144186,14710229,14681682,12477932,12168954,11027293,8590280,15761153,17855372,20936341 2293492 23513 NM_015356,NM_182706,AC105219,CH471162,AF240677,AF271734,AF318352,AY062238,BC009490,BC014632,BC026045,BC036905,BC044627,BC063590,D63481 NP_056171,NP_874365,EAW82196,EAW82197,EAW82198,AAP88017,AAP88018,AAL55859,AAL38976,AAH09490,AAH14632,AAH44627,BAA09768,Q14160,Q8WYU8,AAI46322 Hs.436329 CRIB1|SCRB1|SCRIB1|Vartul hScrib|protein scribble homolog|scribble protein-coding 1348666 SCRN1 secernin 1 This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 10942595,16630140,15489334,12853948,12477932,12221138,12168954,11921445,9847074,8724849,19019082,20039278,20379614,20381070,17207965 9805 NM_001145513,NM_001145515,NM_014766,AACC02000087,AC004912,AC007285,CH471073,AA910381,AB071705,AK289514,AK293462,NM_001145514,HH836336,AK294891,AK295172,AK295713,AK295800,BC040492,D83777,DC307846,DC370097 NP_001138986,NP_001138985,NP_001138987,NP_055581,EAL24458,AAQ96874,EAW93926,EAW93927,EAW93928,BAE91926,BAF82203,CBX33278,BAG56957,BAG57983,BAG58182,BAG58557,BAG58619,AAH40492,BAA12106,Q12765,ADQ32965 Hs.520740 KIAA0193|SES1 OTTHUMP00000202313|secernin-1 protein-coding 1317110 SCRN2 secernin 2 17207965,15489334,12477932,12221138 90507 CR596796,CR602946,CR604407,CR606349,CR611349,CR613816,CR626068,NM_001145023,NM_138355,AC003665,CH471109,AK290646,AK303835,AK308989,AW452880,BC002980,BC010408,BC017317,CN480733,CR590226,CR591968,CR595401 ADQ32863,Q96FV2,Q9BU04,ABM83735,NP_001138495,NP_612364,EAW94790,EAW94791,EAW94792,BAF83335,BAH14063,AAH02980,AAH10408,AAH17317 Hs.239718 Ses2 secernin-2 protein-coding 1312871 SCRN3 secernin 3 16344560,15815621,15489334,14702039,12477932,12221138,11238933,8889548 79634 AA227619,CK301138,DA760451,NM_001193528,AF279776,AK026795,AK057912,AK295357,AK296558,BC031821,BC119684,BC119685,BG492502,BM725063,CR614109,NM_024583,AC018470,CH471058 NP_001180457,EAX11141,EAX11142,EAX11143,BAB15555,BAG58323,BAG59179,AAH31821,AAI19685,AAI19686,Q0VDG4,Q0VDG5,NP_078859,AAY24217,EAX11140 Hs.470679 FLJ23142|MGC149597|SES3 secernin-3 protein-coding 1314736 SCRT1 scratch homolog 1, zinc finger protein (Drosophila) This gene is a member of the Snail family of C2H2-type zinc finger transcription factors. It codes for a neural-specific transcriptional repressor that binds to E-box motifs. The protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq] 1580863 11274425,15489334,12477932,11687288,11181995 83482 NM_031309,AC142402,AF205589,CH471162,AL512683,AY014996,BC014675,BC024967,BC093806,BX420136,AC233992 NP_112599,EAW82125,AAK01467,AAH14675,Q9BWW7,AAI68377 Hs.31746 DKFZp547F072|SCRT|ZNF898 hScrt|scratch 1|scratch homolog 1 zinc finger protein|transcriptional repressor scratch 1 protein-coding 1348701 SCRT2 scratch homolog 2, zinc finger protein (Drosophila) 1580863 11780052,11274425 85508 NM_033129,AL121758,CH471133,AY129025 NP_149120,CAC00548,EAX10660,EAX10661,AAM98768,Q9NQ03,AAI72245 Hs.355284 ZNF898B scratch 2 protein|scratch homolog 2 zinc finger protein|transcriptional repressor scratch 2 protein-coding 735506 SCT secretin Secretin belongs to the glucagon family. This protein is an endocrine hormone and its major site of production is the endocrine S cells located in the proximal small intestinal mucosa. The release of active secretin is stimulated by either fatty acids or an acidic pH in the duodenum. This hormone stimulates the secretion of bicarbonate-rich pancreatic fluids and has also been shown to regulate the growth and development of the stomach, small intestine, and pancreas. Secretin deficiency has been implicated in autistic syndrome, suggesting that the hormone could have a neuroendocrine function in addition to its role in digestion. [provided by RefSeq] 729921,1580863 11060443,18566919,18280672,16888198,16888194,15706223,15610158,15118068,12160732,12133828,11814635,11278902,10807420,10764961,10576771,9440501,8579602,7782300,2315322,18577758,18240029,19239625,19372104,19904746,20398908,12036966 729921 6343 NM_021920,AF244355,AP006284,CH471158 NP_068739,AAG31443,EAX02368,P09683,AAI46572,AAI52726 Hs.632324 secretin protein-coding 736213 SCTR secretin receptor The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq] 729676,1580863 7612008,18680717,18401761,18223557,17711922,17678920,16935383,16819820,16344560,16192632,15706223,15670850,14702039,14645499,12477932,11517171,10537138,10437774,9506976,9453500,9440501,8579602,8575789,8390245,7864894,7782300,7700244,3186683,1646711,1335692,12036966,18240029,19886671,19904746 729676 6344 NM_002980,AB065660,AC013275,CH471103,AK055551,AK314638,AY462218,BC035757,DA930115,U13989,U20178,U28281 NP_002971,BAC05886,AAY14741,EAW95219,BAG37200,AAR25625,AAH35757,AAA64949,AAC50106,AAA87556,P47872,Q8IV17 Hs.42091 SR SCT-R|pancreatic secretin receptor|secretin receptor protein-coding 1319121 SCUBE1 signal peptide, CUB domain, EGF-like 1 1580863 12270931,16753137,15234972,12477932,11597177,11087664,10591208,20962850 80274 NM_173050,CH471138,Z82214,Z99756,AF525689,AK127719,BC047916,BC127263,BG901065,BX280767 NP_766638,EAW73295,EAW73296,EAW73297,EAW73298,EAW73299,EAW73300,EAW73301,EAW73302,CAI21674,CAQ09720,CAI18854,AAN77133,BAC87098,AAH47916,AAI27264,Q6ZS56,Q86TI6,Q8IWY4,AAI56732,CAQ09719 Hs.133995 signal peptide, CUB and EGF-like domain-containing protein 1|signal peptide-CUB domain-EGF-related 1 protein-coding 1352842 SCUBE2 signal peptide, CUB domain, EGF-like 2 1580863 14702039,19369267,18676680,15489334,12477932,12270931,11528127,19170196,19480626,19625176,19692168,20379614 57758 NM_020974,AC079296,AJ400877,CH471064,AF086390,AK092153,AK092553,AK123039,AK131552,BC111690,AL133990,DN995815,NM_001170690 NP_066025,CAB92285,EAW68602,EAW68603,BAG52571,BAC85521,BAD18686,AAI11691,Q6ZMN9,Q9NQ36,NP_001164161 Hs.523468 CEGB1|CEGF1|CEGP1|Cegb1|Cegf1|FLJ16792|FLJ35234|MGC133057 signal peptide, CUB and EGF-like domain-containing protein 2 protein-coding 1312575 SCUBE3 signal peptide, CUB domain, EGF-like 3 15234972,18391951,15489334,14702039,14574404,12477932,12270931,20546612 222663 NM_152753,CH471081,Z97832,AF452494,AK092010,AK092062,AK291218,AY639608,BC052263,BX537875,CR936607,CR936873 NP_689966,EAX03810,EAX03811,EAX03812,EAX03813,CAI20187,AAN76808,BAC03789,BAC03798,BAF83907,AAU08347,AAH52263,CAD97875,CAI56752,Q5CZ68,Q7Z3I8,Q8IX30,Q8NAV8,CAI59785,ACE87611,ACE86924 Hs.12923 CEGF3|DKFZp686B09105|DKFZp686B1223|DKFZp686D20108|FLJ34743 CUB and EGF containing protein 3|CUB domain and EGF-like repeat containing 3|signal peptide, CUB and EGF-like domain containing protein 3|signal peptide, CUB and EGF-like domain-containing protein 3 protein-coding 1601802 SCXA scleraxis homolog A (mouse) 17129431,19828133,16421571,15338228,12837285,12617822,11585810 100129885 NM_001008271,AC110280,BK000280 NP_001008272,DAA00239,Q7RTU7 Hs.723088 SCX|SCXB|bHLHa41 bHLHa48|basic helix-loop-helix transcription factor scleraxis|class A basic helix-loop-helix protein 41|class A basic helix-loop-helix protein 48|class II bHLH protein scleraxis protein-coding 1625822 SCXB scleraxis homolog B (mouse) 16421571,12617822 642658 NM_001080514 NP_001073983,Q7RTU7 Hs.553250 SCXA|bHLHa48 bHLHa41|basic helix-loop-helix transcription factor scleraxis|class A basic helix-loop-helix protein 41|class A basic helix-loop-helix protein 48 protein-coding 1352273 SCYE1P small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) pseudogene 20677014 170547 NG_001053,AL136992 bA400P21.1 pseudo 1316462 SCYL1 SCY1-like 1 (S. cerevisiae) This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20598683,20548946,20505071,12783284,10843802,18556652,19198626,17081983,16903783,16713569,16261899,15963946,15504359,15489334,15459234,15342556,12477932,12036289,11118629,11042159,8889548,18029348,20209057 57410 NM_020680,NM_001048218,AF255613,AP000769,CH471076,AB047077,AB051427,AB051428,AF225424,AF297709,AK302198,AK314945,BC009967,BC069233,BP281963,BU728709,CR610529 NP_065731,NP_001041683,AAF81422,EAW74395,EAW74396,EAW74397,EAW74398,EAW74399,EAW74400,BAB55454,BAB55458,BAB55459,AAG09726,AAG17902,BAG63559,AAH09967,AAH69233,Q96KG9 Hs.238839 GKLP|HT019|MGC78454|NKTL|NTKL|P105|TAPK|TEIF|TRAP N-terminal kinase-like protein|SCY1-like protein 1|coated vesicle-associated kinase of 90 kDa|likely ortholog of mouse N-terminal kinase-like protein|telomerase regulation-associated protein|telomerase transcriptional element-interacting factor|telomerase transcriptional elements-interacting factor|teratoma-associated tyrosine kinase protein-coding 1343640 SCYL2 SCY1-like 2 (S. cerevisiae) 17587408,16914521,16903783,15809293,15489334,14702039,12477932,10718198,15231748,1589293,19643732 55681 AB037781,AK000936,AK001597,AK024274,AK026160,AK027551,AK125091,BC011525,NM_017988,BC012387,BC063798,CR621893,AC026110,CH471054,AK292980 EAW97634,EAW97635,EAW97636,BAA92598,BAA91433,BAA91778,BAB14869,BAB55194,AAH12387,AAH63798,Q6P3W7,Q9NWE9,NP_060458,EAW97630,EAW97631,EAW97632,EAW97633,BAF85669 Hs.506481 CVAK104|FLJ10074|KIAA1360 SCY1-like protein 2|coated vesicle-associated kinase of 104 kDa protein-coding 1603625 SCYL3 SCY1-like 3 (S. cerevisiae) 20379614,12651155,18029348,19064610,16710414,16381901,16344560,15489336,15489334,15003124,11076863,12477932 57147 NM_020423,NM_181093,AL031297,CH471067,AA844031,AF540957,AK292507,AK304481,AL117233,AY144493,BC014662,BX647352,CR606380,DB285397 NP_851607,CAB52564,CAI23517,CAI23518,EAW90867,EAW90868,AAN23123,BAF85196,BAG65292,CAB55300,AAN41656,AAH14662,Q8IZE3,CAL38717,ABM84394,ABM87343,NP_065156 Hs.435560 PACE-1|PACE1|RP1-97P20.2 OTTHUMP00000034141|OTTHUMP00000034142|SCY1-like protein 3|ezrin-binding partner PACE-1 (PACE-1)|ezrin-binding protein PACE-1|protein-associating with the carboxyl-terminal domain of ezrin protein-coding 1343319 SCZD1 schizophrenia disorder 1 2903449 6377 1342478 SCZD10 schizophrenia disorder 10 (periodic catatonia) 11001582 63944 1350306 SCZD2 schizophrenia disorder 2 6378 1346514 SCZD3 schizophrenia disorder 3 7647789 6365 1353691 SCZD4 schizophrenia disorder 4 8178837 6379 1345019 SCZD5 schizophrenia disorder 5 9226366 6380 1348335 SCZD6 schizophrenia disorder 6 8400 1348629 SCZD7 schizophrenia disorder 7 8401 1351973 SCZD8 schizophrenia disorder 8 9758604 8806 1343330 SCZD9 schizophrenia disorder 9 10784452 51785 1347535 SD segregation distortion (Drosophila) 6381 1353066 SDAD1 SDA1 domain containing 1 737633 17353931,11790298,15635413,15607425,14976432,12477932,11483580,9847074,14702039,20379614 737633 55153 DN602051,AC110615,AC112719,AC115628,CH471057,AF132198,AK001360,AK022683,AK024031,AK300074,AK307540,BC048351,BC054040,BC063797,BC107895,BJ989617,BU619826,CR749574,NM_018115 Q9H359,Q9NVU7,NP_060585,EAX05761,EAX05762,AAG35544,BAA91648,BAB14177,BAB14790,BAG61878,AAH54040,AAH63797,AAI07896,CAH18368,AAI68370 Hs.632604 DKFZp686E22207|FLJ10498 OTTHUMP00000160606|SDA1 domain-containing protein 1|hSDA|nucleolar protein 130|protein SDA1 homolog protein-coding 1349630 SDAD1P1 SDA1 domain containing 1 pseudogene 1 157489 NG_006994,AC022911 pseudo 1352231 SDAD1P2 SDA1 domain containing 1 pseudogene 2 404669 4889254 SDAD1P4 SDA1 domain containing 1 pseudogene 4 100419955 AL160256,NG_024899 pseudo 730864 SDC1 syndecan 1 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq] 1643125,1643127,1643128,1643129,1643133,1357925,2311712,1580863 20598296,19450993,20200931,12902511,12885232,12879463,12824007,12749851,12660231,12477932,12464176,12144130,12091355,11830493,11567105,11179419,11168765,11024024,10506830,10497173,9857223,9792716,9660868,9565572,9548182,9373149,9342064,9294130,9111037,9089390,9050911,8889548,8570206,8163535,8125298,8118875,7959737,7690138,7592967,16982797,2324102,19420730,19351365,19305494,19255147,19228696,19126645,19107206,19073610,19029267,19020713,19010933,18957427,18694404,18657535,18542065,18450755,18450428,18413760,18386024,18378436,18190591,18093920,18064305,18006945,17625591,17579341,17455248,17431390,17413980,17339423,17314405,17149710,16945147,16884912,16857657,16840194,16778379,16773719,16720645,16636895,16341674,16286510,16247452,16132527,16020957,16007225,15902740,15886501,15770719,15743035,15728209,15648090,15489334,15479743,15459490,15383330,15297422,15126321,14972511,14744776,14701864,14645569,14637022,14630925,14521955,12975379,12947106,12920224,12904296,7592855,2519615,2173154,1664683,1644217,1442271,1339431,16817962,16157597,8175719,20471559,20430722,20398359,20736897,11877089,18029348,18997617,19251947,19456850,19473447,19581738,19596856,19632304,19696445,19735958,19802384,19822079,19860843,19866343,19875451,20008145,20036233,20083849,20097882,20204274,20237901,20307537,20361982,20477813,9566955 1643125,1643127,1643128,1643129,1357925,2311712 6382 AAB21434,AAB23935 NM_001006946,NM_002997,AC104792,CH471053,Z48199,AJ551176,AK222739,AK299385,AK313974,BC008765,BM785035,BM910157,CB321970,CR592915,CR600772,CR620183,J05392,X60306 NP_001006947,NP_002988,AAX93151,EAX00828,EAX00829,EAX00830,EAX00831,CAA88235,CAD80245,BAD96459,BAG61371,AAH08765,AAA60605,CAA42851,AAB21434,AAB23935,P18827,Q53H42,ABM84191,ABM87594 Hs.224607,Hs.665958 CD138|SDC|SYND1|syndecan CD138 antigen|heparan sulfate proteoglycan fibroblast growth factor receptor|syndecan proteoglycan 1|syndecan-1 1643262,1643271 BW207_H,BW214_H protein-coding 734386 SDC2 syndecan 2 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq] 2311706,1580863 19913121,20485444,20628086,19179614,19086053,19073173,18716610,18599487,18342939,18093920,18032547,17623663,17516498,17457918,17261577,17035092,16997272,16440330,16303743,16253987,15936998,15489334,15297422,15183101,14999018,14976204,14702039,14674716,14527339,12885232,12860968,12860416,12708751,12477932,12200971,12055189,12036876,11567105,11373281,11161813,11024024,11023673,11018053,10772816,10734053,10704377,10497173,10446183,10375199,9869645,9660868,9391086,9342064,9259269,9244383,9111037,8997243,8889549,8832397,8570206,8187643,8157651,7690138,7551962,7524669,2948951,2745554,19450993,20683009,2523388,1315572,16817962,16157597,12676536,16982797,11356864,11580899,15846369,19288017,19383343,19641225,19786981,19822079,19962968,20006588,20379614,18256285,20929862 2311706 6383 NM_002998,AP003477,AP003548,CH471060,AA114891,AK025488,AK074530,AK097839,AK130131,AK298643,AK298939,AK300067,BC030133,BC049836,CK825252,CR593136,CR596137,CR596820,CR610141,J04621 NP_002989,EAW91755,EAW91756,BAB15150,BAG51965,BAG53540,BAG60818,BAH12908,BAG61873,AAH30133,AAH49836,AAA52701,P34741,Q6PIS6,ADR82698 Hs.1501,Hs.598247 HSPG|HSPG1|SYND2 cell surface-associated heparan sulfate proteoglycan 1|fibroglycan|heparan sulfate proteoglycan 1, cell surface-associated|heparan sulfate proteoglycan core protein|syndecan proteoglycan 2|syndecan-2 protein-coding 1343030 SDC3 syndecan 3 1357925,1580863 16982797,19820907,19822079,18716876,18599487,18093920,18040049,17368428,17018662,16710414,16674815,16052590,15489334,14504279,12477932,11968010,11751872,11527150,10460248,9553134,9455484,9388509,9089390,8662884,8344959,8175719,1556152,16817962,16157597,9342064,7690138,12885232,11567105,11024024,10497173,9111037,8570206,11152476,21050724 1357925 9672 NG_013371,AL445235,CH471059,AB007937,AF248634,AK295698,AL049426,BC013974,BQ887307,CR610672,CR619177,NM_014654 NP_055469,CAI22245,CAI22250,EAX07636,EAX07637,EAX07638,BAA32313,AAK39969,BAG58546,O75056,ABM82826,ABM86012 Hs.158287 N-syndecan|SDCN|SYND3 N-syndecan|syndecan 3 (n-syndecan)|syndecan neural type|syndecan proteoglycan 3|syndecan-3 protein-coding 730877 SDC4 syndecan 4 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq] 2312328,2311707,2312325,1580863 19913121,20485444,20628086,20639201,17879962,18029348,1500433,19350579,18638267,18499669,18342939,18158320,18093920,17901052,17870067,16822948,16636895,16319082,16253987,16087677,16007225,15968398,15819887,15731100,15572366,15489334,15033938,14652650,14637022,12885232,12509413,12493766,12477932,12377772,12241528,12011116,11916978,11889131,11805099,11801740,11780052,11567105,11549250,11456484,11024024,10911369,10497173,9660868,9582338,9556568,9373149,9342064,9111037,8797100,8621465,8570206,8125298,8019004,7916598,7690138,7626103,16817962,16157597,16982797,20398359,20607801,14670076,17545042,18775505,19519784,19538537,19632304,19684582,19695308,19696445,19821490,19822079,19875451,20229236,20953189,20929862 2312328,2311707,2312325 6385 NM_002999,AL021578,CH471077,D79206,AK222695,AK223243,AK303964,AK312507,BC030805,CR542045,CR542074,D13292,X67016 NP_002990,CAA16520,EAW75860,EAW75861,EAW75862,BAA19613,BAD96415,BAD96963,BAG64888,BAG35408,AAH30805,CAG46842,CAG46871,BAA02550,CAA47406,P31431,Q6FGN3,ABM81644,ABM84824 Hs.632267 MGC22217|SYND4 amphiglycan|ryudocan amphiglycan|ryudocan core protein|syndecan 4 (amphiglycan, ryudocan)|syndecan proteoglycan 4|syndecan-4 protein-coding 1349419 SDC4P syndecan 4 pseudogene 12652906 376844 NR_001580,AC004832,AF520746 Hs.534651 pseudo 1343667 SDCBP syndecan binding protein (syntenin) The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 11891216,20228839,9391086,11498591,15371445,11152476,12037664,10230395,9883737,11179419,18839981,18832467,18256285,18234474,17666427,17451681,17081065,16322237,15518882,15489334,15276154,15254681,15126321,15081807,12679023,12643545,12597860,12477932,12403354,12241528,12202822,11432873,10770943,10473577,9920925,9511750,1117941,12775419,15014045,20233700,15231748,16034076,16169070,19228696,19592421,19654410,20145126 6386 BC143915,BC143916,BG111210,BG772269,BU160865,CR593446,CR610009,U83463,NM_005625,NM_001007069,NM_001007068,NM_001007067,NM_001007070,AC068522,CH471068,AF000652,AF006636,AK128645,AK295198,AK298697,AK300647,AK312274,BC013254,BC113674,BC113676 AAI43916,AAI43917,AAB51246,O00560,NP_005616,NP_001007070,NP_001007069,NP_001007068,NP_001007071,EAW86812,EAW86813,EAW86814,EAW86815,EAW86816,AAB97144,AAC52050,BAG58197,BAG60855,BAG62335,BAG35204,AAI13675,AAI13677,ADR82910 Hs.200804 MDA-9|ST1|SYCL|TACIP18 melanoma differentiation associated protein-9|melanoma differentiation-associated protein 9|pro-TGF-alpha cytoplasmic domain-interacting protein 18|scaffold protein Pbp1|syndecan-binding protein 1|syntenin-1 protein-coding 1317056 SDCBP2 syndecan binding protein (syntenin) 2 633988,1580863 16712791,11152476,16344560,16189514,15489334,14702039,12477932,11780052,11102519,9110174,8619474,15342556,8889548 633988 27111 AK296577,NM_080489,NM_015685,AL136531,CH471133,AA514519,AA907131,AF131809,AF159228,AJ292244,AJ292245,AK022318,BC002727,CB147569,CB154525,DB018804,BI599848,BM987490,BP261525,BU684857,NM_001199784 BAG59197,NP_536737,NP_056500,CAC16178,CAH72383,EAX10639,EAX10640,AAD20049,AAF80369,CAC21716,CAC21573,AAH02727,Q9H190,NP_001186713 Hs.657015 FLJ12256|SITAC18|ST-2 syndecan-binding protein 2|syntenin-2 protein-coding 1317135 SDCCAG1 serologically defined colon cancer antigen 1 16341674,18029348,17081983,16103875,15489334,14702039,12477932,10575219,9610721 9147 AL591767,AL627171,CH471078,AF039687,AK000913,AK093783,AK293236,AK295010,AK304695,NM_004713,AK308537,AK314281,BC006001,BC020794,BC031007,BC041351,BC056687,BC064364,BC107764,BM477286,BM835709,BX640804,BX640807,BX648598,BX648753 NP_004704,EAW65741,EAW65742,EAW65743,EAW65744,EAW65745,EAW65746,EAW65747,AAC18036,BAG52763,BAG56774,BAG58070,BAG65465,AAH20794,AAH56687,AAH64364,AAI07765,CAE45886,CAE45889,O60524,Q32Q66,AAI46282,AAI48733,AAH06001 Hs.655964 FLJ10051|NY-CO-1 antigen NY-CO-1|serologically defined colon cancer antigen 1 protein-coding 1321752 SDCCAG10 serologically defined colon cancer antigen 10 12975309,12477932,11329013,9610721,9373149,8125298,19941820,20379614 10283 NM_005869,AC008898,AC092354,AC109465,CH471137,AF039692,AF039693,AK225105,AK225161,AK308223,AK312954,AY358569,BC012117,BG193598,BX647971,CR604860,CR619264 NP_005860,EAW51364,EAW51365,AAC18041,AAC18042,AAQ88932,AAH12117,Q6UX04 Hs.371372 NY-CO-10|SDCCAG10 OTTHUMP00000221956|PPIase CWC27|PPIase SDCCAG10|antigen NY-CO-10|peptidyl-prolyl cis-trans isomerase CWC27 homolog|peptidyl-prolyl cis-trans isomerase SDCCAG10|serologically defined colon cancer antigen 10 protein-coding 1314253 SDCCAG3 serologically defined colon cancer antigen 3 16332174,14702039,12477932,9610721,16169070,17353931,15388255 10807 NM_001039708,NM_006643,NM_001039707,AL592301,CH471090,AA742964,AF039688,AK001296,AL559847,AY129014,AY349357,BC014515,BM549484,BQ723499,CR597452,CR610693,CR615820 NP_001034797,NP_006634,NP_001034796,CAI13936,CAI13937,CAI13940,CAI13941,CAI13942,CAI13943,EAW88228,EAW88229,EAW88230,EAW88231,AAC18037,BAA91607,AAM98757,AAQ56721,AAH14515,Q6YL45,Q96C92,ABM84009,ABM87348 Hs.94300 NY-CO-3 OTTHUMP00000022582|antigen NY-CO-3|serologically defined colon cancer antigen 3 protein-coding 1349476 SDCCAG3L serologically defined colon cancer antigen 3-like 388478 NG_005510,AC090377 SDCCAG3L pseudo 4777671 SDCCAG3P2 serologically defined colon cancer antigen 3 pseudogene 2 646891 NG_022743,Z99297 pseudo 1344755 SDCCAG8 serologically defined colon cancer antigen 8 19913121,20628086,15489334,15146197,14702039,14654843,12559564,12477932,11042152,9610721,20835237,12221128,19626040,20056178,20379614,20421936 10806 NG_027811,NM_006642,AC092782,AC092806,AC096539,CH471148,AF039690,AF161348,AF250731,AK023586,AK297105,AK299212,AK299249,BC015867,BC032454,BC041942,BC045832,CN336494,DC326670 NP_006633,EAW77084,EAW77085,EAW77086,EAW77087,EAW77088,EAW77089,EAW77090,AAC18039,AAF28908,AAO27830,BAG61251,BAG61280,AAH32454,AAH45832,Q86SQ7,BAG59616 Hs.591530 CCCAP|HSPC085|NPHP10|NY-CO-8|SLSN7|hCCCAP antigen NY-CO-8|centrosomal colon cancer autoantigen protein|hCCCAP|serologically defined colon cancer antigen 8 protein-coding 1316372 SDF2 stromal cell-derived factor 2 The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. [provided by RefSeq] 1580863 8918255,15489334,12477932,19479237,19513569,19615732 6388 NM_006923,AC005726,AC010761,CH471159,BC000500,BC001406,BT006709,CR456708,CR596149,CR598630,D50645 NP_008854,EAW51121,EAW51122,EAW51123,EAW51124,AAH00500,AAH01406,AAP35355,CAG32989,BAA09312,Q6IBU4,Q99470,ABM82916,ABM86106 Hs.514036 SDF-2|stromal cell-derived factor 2 protein-coding 1320780 SDF2L1 stromal cell-derived factor 2-like 1 19710015,15489334,15461802,12975309,12477932,11162531,10591208 23753 CR612706,NM_022044,AP000553,CH471095,AB043007,AF277316,AY359118,BC132849,BC132851,BM560445,CR456570 Q9HCN8,AAI39838,CAK54600,CAK54899,NP_071327,EAW59467,BAB18277,AAK69113,AAQ89476,AAI32850,AAI32852,CAG30456 Hs.303116 OTTHUMT00000075032|PWP1-interacting protein 8|SDF2-like 1|SDF2-like protein 1|dihydropyrimidinase-like 2|stromal cell-derived factor 2-like protein 1 protein-coding 731601 SDF4 stromal cell derived factor 4 18355758,17442889,16303743,15489334,14702039,12477932,10648803,9373149,9254016,8609160,8125298,17207965,19513569,19615732,19773279,19913121,20628086 51150 CR612360,CR612558,CR616274,CR617936,CR621113,CR624179,CR625758,CR626225,CR626721,DC405714,L79912,NM_016547,AL162741,CH471183,AF132749,AF153686,AF178986,AK000717,AK027277,AK055331,AK075352,AK126927,AK222521,AK223079,AK299810,AK315517,BC006211,BC007625,BC008917,BC011244,BC022375,CR593462,CR597574,CR598350,CR601306,CR602130,CR604861,CR607329,CR610310,CR611224,CR612176,NM_016176 AAL40084,Q9BRK5,NP_057260,NP_057631,CAI23251,CAI23252,CAI23254,EAW56271,EAW56272,EAW56273,EAW56274,EAW56275,EAW56276,EAW56277,AAL75950,AAD51612,AAF44350,BAB55012,BAC11563,BAD96241,BAD96799,BAG61683,BAG37898,AAH06211,AAH07625,AAH08917,AAH11244,AAH22375,ADQ32709 Hs.42806 Cab45|RP5-902P8.6 45 kDa calcium-binding protein|OTTHUMP00000001754|SDF-4|calcium binding protein|stromal cell-derived factor 4 protein-coding 733521 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. [provided by RefSeq] 1300048,2306881,1580863,724604 15961414,7550341,16361598,16143825,16826196,17376234,17298551,16751257,16344560,15489334,15242332,14702039,12794685,12612654,12477932,11120693,10746566,9373149,8142412,8125298,7798181,19064571,19628817,19644226,19836344,20877624 2306881,724604 6389 CR592508,CR616767,CR624138,D30648,DA160919,DQ402982,L21936,AC021087,AF171017,CH471235,S79641,AB208991,AK094879,AK131350,AK131478,AK225027,AK291311,AK295937,AK302524,BC001380,BC004328,BC041016,CA427314,NM_004168,NG_012339 BAA06332,ABD77315,AAA20683,P31040,Q0QF12,Q59GW8,Q8IW48,NP_004159,AAD51006,EAW50982,EAW50983,EAW50984,AAB35332,BAD92228,BAG52946,BAG54767,BAF84000,BAG58722,BAG63797,AAH01380,AAH41016 Hs.440475 CMD1GG|FP|SDH1|SDH2|SDHF OTTHUMP00000221433|OTTHUMP00000221434|flavoprotein subunit of complex II|succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial|succinate dehydrogenase complex flavoprotein subunit protein-coding 2307455 SDHAF1 succinate dehydrogenase complex assembly factor 1 The succinate dehydrogenase (SDH) complex, or complex II of the mitochondrial respiratory chain, is composed of 4 individual subunits (see SDHA, MIM 600857). SDHAF1 is essential for SDH assembly but does not physically associate with the complex in vivo (Ghezzi et al., 2009).[supplied by OMIM] 19465911,19328947,12477932,8889548 644096 NM_001042631,AF038458,BC007205,BC064605,BC069054,BC137516,BC137517,CR600403,AI954026,BM695501,NG_016869 NP_001036096,AAI37517,AAI37518,A6NFY7 Hs.356460 LYR motif-containing protein 8|SDH assembly factor 1|succinate dehydrogenase assembly factor 1, mitochondrial protein-coding 1606278 SDHAF2 succinate dehydrogenase complex assembly factor 2 19628817,16169070,12477932,19915015,20071235,7814027,8981955,20877624 54949 NM_017841,AP003108,CH471076,AK000494,BC002331,CR593424,CR594044,CR601837,CR609950,CR616531,CR618472,CR624478,AI039966,AI660205,NG_023393 NP_060311,EAW73951,BAA91204,AAH02331,Q9NX18 Hs.313247 C11orf79|FLJ20487|PGL2|SDH5 SDH assembly factor 2|hSDH5|paraganglioma or familial glomus tumors 2|succinate dehydrogenase assembly factor 2, mitochondrial|succinate dehydrogenase subunit 5, mitochondrial protein-coding 1604191 SDHALP1 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 14702039,12477932 255812 NR_003264,AC024937,AF088032,BC071730 Hs.566872,Hs.596261 SDHAL1|SDHALP1 pseudo 1351623 SDHALP2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 16344560,14702039,12477932,10737800 727956 NR_003265,AC069513,AK057553,AK074764,BC064564,BC073879,BE712485,BQ445981,DA457940,AC233280,AK316025,BC053551,BC062438 BAH14396 Hs.596261 SDHAL2|SDHALP2 pseudo 1343437 SDHAP3 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 12477932 728609 NR_003263,AC091849,BC129998,BC150557,BC150558 Hs.379186 MGC179707|SDHACL|SDHAL pseudo 1318463 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq] 1300048,2306881,1624151,1580863 19913121,20628086,20677014,15961414,2302193,19389109,19368708,19343621,19258401,19223516,19215943,19208735,19075037,19029228,18728283,18678321,18551016,18519664,18382370,18362451,18310297,18057081,17967865,17943698,17804857,17667967,17652212,17639058,17599579,17308434,17298551,17298303,17200167,17143317,17102080,16912137,16751257,16710414,16472267,16405730,16322339,16314641,15489334,15328326,15087120,14718574,14685938,14512425,12618761,12612654,12477932,12362046,12213855,12000816,11897817,11404820,16143825,19399650,8291026,7778269,7622059,2494655,12054535,20119652,20592014,20877624,20540712,20503330,18029348,18419787,19064571,19189136,19261994,19393419,19768395,19802898,19825962,19849834,19915015,20082856,20153743,20189936,20193854,20205103,20208144,20213850,20236688,20305538,20379614,20505258 2306881,1624151 6390 NM_003000,NG_012340,AJ549502,AL049569,CH471134,U17886,AK312056,BC007840,BF796275,BU554163,CR593493,CR595888,CR596635,CR596760,CR606201,CR610874,D10245,DQ403007,M32246,U17248 NP_002991,CAE47739,CAB96822,EAW94828,EAW94829,AAA80581,BAG34992,AAH07840,BAA01089,ABD77140,AAA35708,AAA81167,P21912,Q0QEY7,Q70SX8 Hs.465924 FLJ92337|IP|PGL4|SDH|SDH1|SDH2|SDHIP iron-sulfur subunit of complex II|succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial protein-coding 1354327 SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. Several related pseudogenes are located in different genomic regions. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 2306881,1599507,1580863 9533030,16143825,2302193,19343621,19258401,19223516,19029228,18728283,17804857,17667967,17599579,17298551,17250422,17102080,16405730,16322339,15665296,15489334,15342702,12658451,12612654,12477932,20877624,11897817,11404820,11062460,9851882,9714607,19064571,19546167,19768395,19915015,20153743,20208144,20236688 2306881,1599507 6391 AK293687,NM_003001,NM_001035511,NM_001035512,NM_001035513,NG_012767,AF039594,AL592295,CH471121,AB201252,AB211234,AB211235,AB212048,AK131051,AK294305,BC012735,BC020808,BC033626,BC066329,BG724095,CR457102,CR591478,CR594069,CR594901,CR597554,CR602016,CR606805,CR608606,CR613513,CR614683,CR618151,CR621523,D49737,U57877 BAG57126,NP_002992,NP_001030588,NP_001030589,NP_001030590,AAC27993,CAH70271,EAW52597,EAW52598,EAW52599,EAW52600,EAW52601,EAW52602,EAW52603,EAW52604,BAE46977,BAE46978,BAE46979,BAE46980,BAG57586,AAH20808,AAH33626,AAH66329,CAG33383,BAA31998,AAB41838,O75609,Q3C259,Q3C2D8,Q3C2H4,Q6IAQ2,Q99643 Hs.444472 CYB560|CYBL|PGL3|QPS1|SDH3 OTTHUMP00000217420|QPs-1|cytochrome B large subunit of complex II|integral membrane protein CII-3|integral membrane protein CII-3b|succinate dehydrogenase complex subunit C|succinate dehydrogenase cytochrome b560 subunit, mitochondrial|succinate-ubiquinone oxidoreducatase cytochrome B large subunit|succinate-ubiquinone oxidoreductase cytochrome B large subunit protein-coding 4110650 SDHCP1 succinate dehydrogenase complex, subunit C pseudogene 1 100422600 AC096708,NG_026341 pseudo 1345704 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The subunit D protein is one of two integral membrane proteins anchoring the complex to the matrix side of the membrane. Mutations in SDHD have been linked to hereditary paraganglioma. [provided by RefSeq] 1580035,2306881,1302858,1580863 19913121,20628086,17804857,17727250,17667967,17639058,17599579,17576205,17526943,17308434,17298551,17298303,17227803,17102080,16797480,16322339,16314641,16303743,15623805,15531530,15489334,15365827,15328326,15066320,15032977,12883710,12811540,12782822,12696072,12612654,12477932,12114404,12111639,12007193,12000816,11897817,11605159,11526495,11391798,11391796,11343322,11323050,11156372,10657297,10482792,7814027,7566098,1301144,18551016,18211978,20877624,9533030,16143825,2302193,19399650,19393419,19343621,19289533,19258401,19240061,19239085,19223516,19215943,19205158,19075037,19072999,19029228,18840642,18826997,18728283,18678321,18561749,20111059,17973943,19546167,19584903,19768395,19802898,19825962,19915015,20153743,20205103,20208144,20236688,20505258 1580035,2306881,1302858 6392 NG_012337,AB026906,AP002007,CH471065,AA374642,AB006202,AK075360,BC005263,BC009574,BC012603,BC015188,BC015992,BC022350,BC070307,BC071755,BC071756,BQ000657,BT007238,NM_003002,BX419391,CR456932,CR617068 NP_002993,BAA81889,EAW67181,EAW67182,EAW67183,BAA22054,BAG52120,AAH05263,AAH09574,AAH12603,AAH15188,AAH15992,AAH22350,AAH70307,AAH71755,AAH71756,AAP35902,CAG33213,O14521,ABM83627,ABM87291 Hs.356270,Hs.647227 CBT1|PGL|PGL1|SDH4 CII-4|QPs3|cybS|succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial|succinate dehydrogenase complex subunit D|succinate dehydrogenase ubiquinone cytochrome B small subunit|succinate-ubiquinone oxidoreductase cytochrome b small subunit|succinate-ubiquinone reductase membrane anchor subunit protein-coding 1350543 SDHDP1 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1 10482792 29773 1350059 SDHDP2 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2 10482792,10482792 29772,647081 AC083871,CH236950,NG_009407 pseudo 1348181 SDHDP3 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3 10482792 29771 NG_005647,AC007849 pseudo 1343144 SDHDP4 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4 10482792 29770 NG_005646,AC005669,AC099782 pseudo 1351853 SDHDP5 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5 10482792 29769 1604017 SDHDP6 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6 11902138,10482792 29768 NG_003255,AL928711 pseudo 1345071 SDHDP7 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7 11902138 388606 NG_003255,AL031284,AL928711 pseudo 1352696 SDK1 sidekick homolog 1, cell adhesion molecule (chicken) 1580863 17307840,16344560,15213259,14702039,12230981,9110174,8619474,20562105,19197348,19851296,20198315,20379614,20398908 221935 NM_152744,NR_027816,AC004935,AC004984,AC011284,AC015968,AC017000,AC069286,AC073316,AC073550,AC079231,AC092427,CH236953,CH471144,AF131799,AK055987,AK055988,AK074077,AK074083,AL833354,AY310398,CR597652,CR605257,DB065853,DB454012 NP_689957,EAW87286,EAW87287,EAW87288,BAB71066,BAB84903,BAB84909,AAP75619,Q7Z5N4 Hs.653013 FLJ31425 OTTHUMP00000200448|protein sidekick-1|sidekick homolog 1 (chicken) protein-coding 1321280 SDK2 sidekick homolog 2 (chicken) The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq] 19165232,16625196,15489334,15213259,14702039,12477932,12230981,10819331,9310325,15203218 54549 NM_001144952,AC032019,AC087301,AC124804,CH471099,AB040947,AK001694,AK074994,AK091827,AL137357,BC045763,BC066363,BQ182396,CD629657,CR616107 NP_001138424,EAW89126,EAW89127,EAW89128,EAW89129,BAA96038,BAA91841,BAG52422,CAB70709,AAH45763,AAH66363,Q58EX2,AAI72275,AAI72562 Hs.435719 FLJ10832|KIAA1514 Drosophila sidekick-like|OTTHUMP00000202279|chicken sidekick 2-like|protein sidekick-2 protein-coding 1348108 SDPR serum deprivation response (phosphatidylserine binding protein) This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein has also been shown to be a substrate for protein kinase C (PKC) phosphorylation. [provided by RefSeq] 1580863 16189514,15815621,15489334,15146197,12665801,12477932,9566962,8241023,8012384,2390065,10191091,19525939,16344560,18332105,19722192,8889548 8436 NM_004657,AC098872,CH471058,Z55164,AF085481,AK026943,AK290378,BC016475,BX113402,CN286178,R55388,BM971534,BQ025694,DA561006 NP_004648,AAY24078,EAX10833,AAD17795,BAF83067,AAH16475,O95810,ABM82366,ABM85543 Hs.26530 PS-p68|SDR|cavin-2 phosphatidylserine binding protein|phosphatidylserine-binding protein|serum deprivation-response protein protein-coding 1604728 SDR16C5 short chain dehydrogenase/reductase family 16C, member 5 RDHE2 belongs to a family of short-chain alcohol dehydrogenases/reductases that catalyze the first and rate-limiting step that generates retinaldehyde from retinol (Matsuzaka et al., 2002 [PubMed 12372410]).[supplied by OMIM] 20546612,18391951,18391950,15457346,14702039,12477932,12372410,12407145,18926804,19102727,20379614 195814 NM_138969,AC103849,CH471068,AB083038,AK057667,AK095159,AK294634,AY444559,BC037219,BC064525 NP_620419,EAW86780,EAW86781,EAW86782,BAB91014,BAB71545,BAG52996,BAG57813,AAS68535,AAH37219,AAH64525,Q8N3Y7 Hs.170673 FLJ33105|RDH#2|RDH-E2|RDHE2 EPHD-2|epidermal retinal dehydrogenase 2|epidermal retinol dehydrogenase 2|retSDR2|retinal short chain dehydrogenase reductase|retinal short-chain dehydrogenase reductase 2|short-chain dehydrogenase/reductase family 16C member 5 protein-coding 2303685 SDR16C6 short chain dehydrogenase/reductase family 16C, member 6 19027726 442388 NM_001145251,AC023464,AC103849 NP_001138723 Hs.632065 protein-coding 1319586 SDR39U1 short chain dehydrogenase/reductase family 39U, member 1 19027726,15489334,14702039,12477932 56948 NM_020195,AL132800,CH471078,AF226050,AK123513,BC000989,BC008566,BI256676,BX161384,CR590864,CR592384,CR600486,CR601098,CR602789,CR608148,CR610185,CR615168,CR616064,CR623352 NP_064580,EAW66009,EAW66010,EAW66011,EAW66012,AAF86950,AAH00989,CAD61875,Q86TZ5,Q9NRG7 Hs.643552 C14orf124|HCDI epimerase family protein SDR39U1|short-chain dehydrogenase/reductase family 39U member 1 protein-coding 1601729 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 19027726,12477932,8889548,17207965 93517 NM_145168,AC092142,CH471114,AF161368,AK026740,AK315652,BC019670,BX482154,CB851753 NP_660151,EAW95521,EAW95522,EAW95523,AAF28928,BAG38018,AAH19670,Q8WUS8,ABM82212,ADQ31772 Hs.87779 HSPC105 NAD(P) dependent steroid dehydrogenase-like|short-chain dehydrogenase/reductase family 42E member 1 protein-coding 732810 SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 19027726,12477932,12234675,14702039 121214 NM_148897,AC026120,CH471054,AK122782,AY044434,BC101551,BC101553 NP_683695,EAW96967,BAG53726,AAK95856,AAI01552,AAI01554,Q8NEX9 Hs.380178 FLJ16333|MGC126600|MGC126602|RDHS|SDR-O|SDRO RDH-S|orphan short-chain dehydrogenase / reductase|orphan short-chain dehydrogenase/reductase|retinol dehydrogenase similar protein|short-chain dehydrogenase/reductase family 9C member 7 protein-coding 734053 SDS serine dehydratase This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq] 1580863,1300048 15689518,18342636,2674117,18289528,14646100,12477932,10347152,8889548,435568,163697,163593,31199 10993 NM_006843,AC010178,CH471054,AK292760,BC020750,BG534053,BG566257,BU740747,CR609930,J05037 NP_006834,EAW98054,EAW98055,EAW98056,BAF85449,AAH20750,AAA36604,P20132,Q8WW81 Hs.439023 SDH L-serine ammonia-lyase|L-serine deaminase|L-serine dehydratase|L-serine dehydratase/L-threonine deaminase|L-threonine dehydratase|TDH protein-coding 1319395 SDSL serine dehydratase-like 1580863 16189514,15489334,12477932,20877624,18342636 113675 NM_138432,AC009773,AC010178,CH471054,AF134473,BC009849,BC091479 NP_612441,EAW98057,EAW98058,EAW98059,AAP97250,AAH09849,AAH91479,Q96GA7,ABM84069,ABM87428 Hs.337594 SDH 2|SDS-RS1|TDH L-serine deaminase|L-serine dehydratase/L-threonine deaminase|L-threonine dehydratase|SDH|serine dehydratase 2|serine dehydratase related sequence 1|serine dehydratase-like protein-coding 1349913 SDU skeletal dysplasia (unspecified) 6393 1346173 SEA S13 erythroblastosis oncogene homolog (avian) 6395 1626595 SEBOX SEBOX homeobox Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM] 19913121,20628086,10922053 645832 NM_001080837,AC002094,AF284337,CH471159 NP_001074306,AAG14458,EAW51081,Q9HB31 Hs.2257 OG-9|OG9|OG9X homeobox OG-9|homeobox protein SEBOX|skin-, embryo-, brain- and oocyte-specific homeobox protein-coding 1344783 SEC11A SEC11 homolog A (S. cerevisiae) 9631292,17353931,15489334,12477932,9373149,8125298,16169070 23478 AK314146,BC000359,BC014508,CR457127,CR591824,CR592431,CR593030,CR596388,CR599809,CR602988,CR609347,CR610378,CR611144,CR617421,CR620100,AC087732,AC115102,CH471101,AB209437,AF061737,AF087906,AF090315,AF108945,AK223224,AK300693,NM_014300 BAG36834,AAH00359,AAH14508,CAG33408,P67812,Q59FM3,Q6IAM7,Q7Z4Z6,ABM82752,NP_055115,EAX01952,EAX01953,EAX01954,EAX01955,EAX01956,BAD92674,AAD17526,AAP97204,AAC36354,AAD19640,BAD96944,BAG62376 Hs.9534 1810012E07Rik|SEC11L1|SPC18|SPCS4A|sid2895 SEC11-like 1|SEC11-like protein 1|SPase 18 kDa subunit|endopeptidase SP18|microsomal signal peptidase 18 kDa subunit|sec11-like 1 (s. cerevisiae)|signal peptidase complex (18kD)|signal peptidase complex catalytic subunit SEC11A protein-coding 1353467 SEC11B SEC11 homolog B (S. cerevisiae) 157708 NG_008902,AC091076 P0C7V7 SEC11L2|SPCS4B pseudo 1348413 SEC11C SEC11 homolog C (S. cerevisiae) 1580863 17207965,15489334,12477932,9631292 90701 NM_033280,AC021241,CH471096,AF212233,AK295346,AK307127,AK314107,BC009703 ADQ33210,NP_150596,EAW63089,EAW63090,AAK14919,BAG58315,BAG36800,AAH09703,Q9BY50 Hs.45107 SEC11L3|SPC21|SPCS4C SEC11-like 3|SEC11-like protein 3|SPase 21 kDa subunit|microsomal signal peptidase 21 kDa subunit|signal peptidase complex catalytic subunit SEC11C protein-coding 1344614 SEC13 SEC13 homolog (S. cerevisiae) The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq] 1580863 15489334,14702039,14517296,12665801,12477932,10788476,10747849,9373149,9110174,8619474,8125298,7876304,15146057,18692470,11252894,7987303,11031247,18713835,18160040,16407955,16189514,16799092,17360435,19682973 6396 NR_024272,NR_024273,NM_183352,NM_001136232,AC022384,CH471055,AB209554,AF052155,AK095629,AK223019,AK294662,AK301999,BC002634,BC006167,BC091506,BE621430,CR592819,CR606959,CR608262,CR608768,CR613266,CR616331,CR620379,CR623402,EF036494,L09260 NP_899195,NP_001129704,EAW64077,EAW64078,BAD92791,BAD96739,BAG57832,BAG63403,AAH02634,AAH06167,AAH91506,ABO65080,P55735,Q53GB2,Q59FA6 Hs.166924 D3S1231E|SEC13L1|SEC13R|npp-20 OTTHUMP00000158855|OTTHUMP00000195525|OTTHUMP00000195527|SEC13-like 1 isoform|SEC13-like protein 1|SEC13-related protein|protein SEC13 homolog protein-coding 1320418 SEC14L1 SEC14-like 1 (S. cerevisiae) The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 8697811,16381901,16344560,15489336,14702039,12477932,11707779,11230166,11076863,9110174,8619474,16368544,19734545 6397 D67029,DA024354,DB040556,DB040580,U79284,NM_001039573,NM_001143999,NM_003003,NM_001144001,AC068594,CH471099,AB208811,AK094232,AK130317,AK290913,AK293206,AK293867,AK303328,BC136523,BC136525,BC142979,BM802278,BX537448,CR624475,NM_001143998,FM995495,FM995496,FM995497 BAA11048,AAB50220,Q59HE8,Q6ZP00,Q7Z3R7,Q92503,CAL38341,AAI43078,AAI50322,NP_001137470,NP_001034662,NP_001137471,NP_002994,NP_001137473,EAW89469,EAW89470,BAD92048,BAC85325,BAF83602,BAG56746,BAG57258,BAG64393,AAI36524,AAI36526,AAI42980,CAD97690,CAX33889,CAX33890,CAX33891 Hs.464184 DKFZp686C06176|PRELID4A|SEC14L SEC14-like protein 1 protein-coding 736725 SEC14L2 SEC14-like 2 (S. cerevisiae) This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 7364757,11444841,10829015,11226224,19305383,19190344,18676680,17334589,16267002,15998911,15790807,15461802,15033454,14702039,12972248,12757856,12477932,12454003,12429094,11258795,10591208,10574461,9847074,9373149,9036970,8889548,8125298,19170196,19625176,19692168,19909011 23541 NM_033382,AC004832,CH471095,AB033012,AK056163,AK091402,AK223587,AK296540,AK303751,AK314390,AL096881,AY203959,AY927434,AY927435,AY927436,AY927437,AY927438,AY927439,AY927440,NM_012429,AY927441,BC048337,BC058915,BU734336,CR456571,CR607299 NP_036561,NP_203740,AAF19256,EAW59885,EAW59886,EAW59887,EAW59888,BAA86500,BAG52350,BAD97307,BAH12384,BAH14037,BAG37015,CAB51405,AAP34482,AAH58915,CAG30457,O76054,Q6PD61,Q6XYB1,CAK54601,CAK54900 Hs.335614 C22orf6|KIAA1186|KIAA1658|MGC65053|SPF|TAP|TAP1 OTTHUMP00000198973|OTTHUMP00000199021|SEC14-like protein 2|alpha-tocopherol-associated protein|hTAP|sec14 (s. cerevisiae)-like 2|squalene transfer protein|supernatant protein factor|tocopherol-associated protein protein-coding 1346355 SEC14L3 SEC14-like 3 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. [provided by RefSeq] 1580863 15040456,15033454,12757856,12477932,10591208,8889548 266629 NM_174975,AC004832,CH471095,AK131358,AK298079,AY158086,AY240872,BC069641,BC101001,BC101002,BC101003,BC101004,BE219833,BQ186227,BU584962,NG_027515 NP_777635,AAF19258,EAW59893,EAW59894,BAG54768,BAG60367,AAO21870,AAO52677,AAH69641,AAI01002,AAI01003,AAI01004,AAI01005,Q495V9,Q495W0,Q495W1,Q6ISB2,Q6XCI7,Q9UDX4 Hs.505601 MGC119366|MGC119367|MGC119368|TAP2 OTTHUMP00000199511|OTTHUMP00000199512|OTTHUMP00000199582|OTTHUMP00000199583|SEC14-like protein 3|SEC14p-like protein TAP2|tocopherol-associated protein 2 protein-coding 1343842 SEC14L4 SEC14-like 4 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 15461802,15033454,14702039,12757856,12477932,10591208,8889549,20012369 284904 NM_174977,NM_001161368,AC004832,CH471095,AK092002,AK093418,AK093448,AY158085,BC136358,BC136359,BC139912,CR456346,T72380 NP_777637,NP_001154840,AAF19259,EAW59895,EAW59896,EAW59897,BAG52461,BAG52712,BAG52719,AAO21869,AAI36359,AAI36360,AAI39913,CAG30232,Q6ICM2,Q9UDX3,CAK54647,CAK54946 Hs.517541 TAP3 OTTHUMP00000199507|SEC14-like protein 4|SEC14p-like protein TAP3|tocopherol-associated protein 3 protein-coding 1605420 SEC14L5 SEC14-like 5 (S. cerevisiae) 9455477 9717 NM_014692,AC007011,AC026458,AC027687,CH471112,AB007880,BC045685 NP_055507,EAW85247,BAA24850,O43304,AAI66626 Hs.512856 KIAA0420|PRELID4B SEC14-like protein 5 protein-coding 1354294 SEC16A SEC16 homolog A (S. cerevisiae) 737633 17428803,17192411,17081983,17005010,16964243,15489334,15302935,15164053,14743216,14702039,12477932,12168954,9205841,8889548,19638414 737633 9919 BC001404,BC008332,BC016873,BC028183,BC040710,BC051290,BC070488,BC098454,BC125018,BC125019,BM975558,DQ903855,AL592301,AB002308,AK074565,AK094041,AK094756,AK124843,AK126215,AK129634,AK130247,AK301371,AK302210,AK316194,NM_014866 AAH01404,AAH08332,AAH16873,AAH28183,AAH98454,AAI25019,AAI25020,ABI78944,O15027,Q5SXP2,Q6ZP13,Q8N2P2,NP_055681,CAI13948,CAI13949,CAI13950,CAI13951,CAI13952,BAA20769,BAC11063,BAC04415,BAC85312,BAG62913,BAG63568,BAH14565,Q8N9G1,Q9BV84 Hs.522500,Hs.668588 FLJ26737|KIAA0310|RP11-413M3.10|SEC16L|p250 OTTHUMP00000022592|OTTHUMP00000022593|protein SEC16 homolog A|protein transport protein Sec16A protein-coding 737396 SEC16B SEC16 homolog B (S. cerevisiae) 19214710,19079260,17192411,16189514,15302935,14702039,12477932,11752456,11605020,11572484,20712903,20724581,20816195,20616199,21102462,20935630,19812171,19851340,20215397 89866 EF125213,AL160007,AL356279,CH471067,AB063357,AK074451,AK090971,AK093939,AK098627,AK314585,AV697113,BC009106,NM_033127 ABN42197,Q8NF68,Q96JE7,Q96PW0,NP_149118,CAI22847,CAI22848,CAI16320,CAI16321,EAW91010,EAW91011,EAW91012,EAW91013,EAW91014,EAW91015,BAB61035,BAC05357,AAH09106 Hs.709633 DKFZp686C2486|FLJ23871|FLJ25761|FLJ33652|FLJ36620|LZTR2|PGPR-p117|RGPR|SEC16S OTTHUMP00000032954|RGPR-p117|leucine zipper transcription regulator 2|protein SEC16 homolog B|protein transport protein Sec16B|regucalcin gene promoter region-related protein p117|regucalcin gene promotor region related protein protein-coding 1344636 SEC22A SEC22 vesicle trafficking protein homolog A (S. cerevisiae) The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq] 61611,1580863 17207965,20379614,8621431,17499046,16344560,15489334,14702039,12477932,11042152,9501016,9094723,11927603 61611 26984 NM_012430,AC063922,AC112503,CH471052,AF100749,AK057587,AK315771,BC007122,BG613364,BX118915,CR606488,DA308910 NP_036562,EAW79451,AAD43013,BAG51938,BAG38123,AAH07122,Q96IW7,ADQ32303 Hs.477361 SEC22L2 OTTHUMP00000215582|OTTHUMP00000215583|OTTHUMP00000215598|SEC22 vesicle trafficking protein-like 2|SEC22 vesicle-trafficking protein homolog A|SEC22 vesicle-trafficking protein-like 2|sec22 homolog|vesicle-trafficking protein SEC22a protein-coding 1320628 SEC22B SEC22 vesicle trafficking protein homolog B (S. cerevisiae) The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins. There is evidence for use of multiple polyadenylation sites for the transcript. [provided by RefSeq] 61611,1580863 20562859,16354670,9094723,17081065,15489334,15308636,15272311,15203218,12477932,11042152,11035026,11001058,9653160,15029241,9166403 61611 9554 NM_004892,AL359758,BX537145,AF047442,AI085383,AK289875,BC001364,CD619408,CR624978 NP_004883,AAC39893,BAF82564,AAH01364,O75396,ABM83510,ABM86727 Hs.632438 ERS-24|SEC22L1 ER-Golgi SNARE of 24 kDa|OTTHUMP00000205451|SEC22 vesicle trafficking protein-like 1|SEC22 vesicle-trafficking protein homolog B|vesicle-trafficking protein SEC22b protein-coding 1607079 SEC22C SEC22 vesicle trafficking protein homolog C (S. cerevisiae) The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It is localized at the endoplasmic reticulum and it is thought to play a role in the early stages of the ER-Golgi protein trafficking. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq] 9501016,12975309,12477932,16344560 9117 NM_004206,NM_032970,AC092047,CH471055,AF039568,AK074576,AK292856,AK293133,AY359041,BC006178,BC018437,CR595143,CR597095,CR600018,CR600923,CR606001,CR615911,CR621586,CR749670,BX377531,CB410223,DA434403,NM_001201572,NM_001201584 NP_004197,NP_116752,EAW64653,EAW64654,EAW64655,EAW64656,AAD02171,BAF85545,BAG56682,AAQ89400,AAH06178,AAH18437,CAH18461,Q9BRL7,ABM82520,ABM85713,NP_001188501,NP_001188513 Hs.445892 DKFZp761F2321|MGC13261|MGC5373|SEC22L3 OTTHUMP00000209408|OTTHUMP00000209412|SEC22 vesicle trafficking protein-like 3|SEC22 vesicle-trafficking protein homolog C|SEC22 vesicle-trafficking protein-like 3|secretion deficient 22C|vesicle trafficking protein|vesicle-trafficking protein SEC22c protein-coding 1354109 SEC23A Sec23 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq] 1580863 10075675,16091426,17220478,18692470,11252894,11031247,8898360,18713835,17981133,16980979,15489334,15013749,14702039,12677423,12508121,12477932,10329445,15580264,17192411,20379614 10484 NM_006364,NG_012157,AL109628,CH471078,AK127355,AK293944,AK299862,AK303485,AK312259,AL137739,BC036649,BX537566,CR596813,CR598302,CR600943,CR615861,X97064 NP_006355,EAW65831,BAG54494,BAG57321,BAG61717,BAG64521,BAG35191,AAH36649,CAA65774,Q15436,ABM81828,ABM84273,ABM84981 Hs.272927 CLSD|MGC26267 SEC23-related protein A|protein transport protein Sec23A protein-coding 1321756 SEC23B Sec23 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20562859,8898360,19561605,16341674,16189514,15489334,15342556,12477932,11780052,10329445,10075675,20941788,20381388,11836161,18029348,19621418,20379614,9345103 10483 NM_006363,NM_032986,AL121893,AL121900,CH471133,AK296270,AK299171,AK299513,NM_032985,AL540773,BC001151,BC001575,BC005032,BC005404,BC095404,BM473680,BM751928,BM925053,BP244573,BX398403,CR616546,DB447110,EC528189,X97065,NG_016281,NM_001172745,NM_001172746 NP_116780,NP_006354,NP_116781,CAI12512,CAI12513,CAI12514,CAH73149,CAH73150,EAX10231,EAX10232,EAX10233,EAX10234,EAX10235,BAG58980,BAG61217,BAG61466,AAH05032,AAH05404,AAH95404,CAA65775,Q15437,Q5QPE2,ABM82079,ABM85258,NP_001166216,NP_001166217 Hs.369373 CDA-II|CDAII|CDAN2|HEMPAS SEC23-like protein B|SEC23-related protein B|congenital dyserythropoietic anemia, type II|protein transport protein Sec23B|transport protein SEC23B protein-coding 1319616 SEC23IP SEC23 interacting protein COPII-coated vesicles are involved in protein transport from the endoplasmic reticulum to the Golgi apparatus. The protein encoded by this gene was identified by its interaction with a mouse protein similar to yeast Sec23p, an essential component of the COPII. This protein shares significant similarity with phospholipid-modifying proteins, especially phosphatidic acid preferring-phospholipase A1. Overexpression of this protein has been shown to cause disorganization of the endoplasmic reticulum-Golgi intermediate compartment and Golgi apparatus, which suggests its role in the early secretory pathway. [provided by RefSeq] 1580863 10400679,19240061,16510448,15623529,15489334,14702039,12477932,11112430,16385451,20679433 11196 NM_007190,AC027672,CH471066,AB019435,AF116723,AK000698,AK001135,AK021846,AK023238,AK301517,AK307286,AK314592,BC002540,BC063800,BT006755,BX649119,CR612935,CR619756 NP_009121,EAW49371,EAW49372,EAW49373,EAW49374,BAA77392,AAO15299,BAG50859,BAG51172,BAG63023,AAH63800,AAP35401,Q9Y6Y8 Hs.435004 MSTP053|P125 SEC23-interacting protein|Sec23-interacting protein p125|phospholipase protein-coding 1319800 SEC24A SEC24 family, member A (S. cerevisiae) In yeast, the Sec23-Sec24 complex is a component of coat protein II (COPII; see MIM 601924)-coated vesicles that mediate protein transport from the endoplasmic reticulum. SEC24A is 1 of several mammalian proteins that show structural and functional homology to yeast Sec24.[supplied by OMIM] 1580863 11252894,11031247,17499046,17255961,15489334,12477932,10329445,10075675,16189514 10802 NM_021982,AC010301,AC106763,CH471062,L81692,AJ131244,AK026545,AK304060,AL080064,AL137677,BC009325,BC019341,CD109783 NP_068817,EAW62246,CAA10334,BAG64967,AAH09325,AAH19341,O95486 Hs.595540 SEC24 related gene family, member A|SEC24-related protein A|protein transport protein Sec24A protein-coding 1319664 SEC24B SEC24 family, member B (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The role of this gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20562859,20332099,10075675,17474147,11252894,11031247,18713835,17499046,17081983,16344560,16094384,12477932,10329445 10427 CR605949,NM_006323,NM_001042734,AC105314,AC138782,CH471057,AI193145,AJ131245,AK300278,AK304234,BC040137,BC117135,BC143268,BC143269,BC143276,BM802180,DA498444 NP_006314,NP_001036199,EAX06241,CAA10335,BAG62038,BAG65103,AAI17136,AAI43269,AAI43277,AAH40137,O95487 Hs.292472 MGC48822|SEC24 SEC24 related gene family, member B|Sec24-related protein B|protein transport protein Sec24B|secretory protein 24 protein-coding 1321602 SEC24C SEC24 family, member C (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580863 18692470,11252894,10329445,11031247,10214955,18329616,17373700,15489334,15302935,15013749,12477932,10075675,7584044,16189514 9632 NM_004922,NM_198597,AC022400,CH471083,AK098512,AK298598,AK299826,AK303085,AK309918,AK316451,AL596994,AL832110,BC018928,BQ710971,D38555,CA419040 NP_004913,NP_940999,EAW54515,EAW54516,EAW54517,BAG60784,BAG61695,BAG64196,BAH14822,AAH18928,BAA07558,P53992 Hs.81964 KIAA0079 SEC24 related gene family, member C|SEC24-related protein C|protein transport protein Sec24C protein-coding 1323325 SEC24D SEC24 family, member D (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. [provided by RefSeq] 1580863 11252894,10329445,11031247,17210573,16344560,16189514,15231748,14702039,12477932,10075675,9872452,15580264,20332099,20379614,20889976 9871 NM_014822,AC108030,AC110079,CH471229,AB018298,AF130464,AK000709,AK001390,AK125962,AK291765,AK302479,AK309960,AK310259,BC035761,BC037736,CR599495,DB224337 NP_055637,AAY40935,EAW73653,EAW73654,EAW73655,EAW73656,BAA34475,AAD28756,BAA91334,BAG50901,BAG54271,BAF84454,BAG63767,AAH35761,AAH37736,O94855,Q49AI3,Q4W5D3,Q9NWP5,ABM85382,ABW03718 Hs.189641 FLJ43974|KIAA0755 OTTHUMP00000219902|SEC24 related gene family, member D|SEC24-related protein D|protein transport protein Sec24D protein-coding 1350188 SEC31A SEC31 homolog A (S. cerevisiae) The protein encoded by this gene is similar to yeast Sec31 protein. Yeast Sec31 protein is known to be a component of the COPII protein complex which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was found to colocalize with SEC13, one of the other components of COPII , in the subcellular structures corresponding to the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi transport. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20936779,17196169,17214967,11252894,10788476,11031247,18713835,17981133,16957052,16407955,16344560,16161041,14702039,12665801,12477932,12107410,11269867,10048485,9373149,8125298,15146057,18029348,18256029,18692470,20379614 22872 NM_001077207,NM_001077208,NM_016211,NM_014933,AC021105,AC108469,CH471057,AB018358,AB018359,AB020712,AF139184,AF161393,AF161452,AK001014,AK002161,AK125897,NM_001077206,AK225934,AK295810,AL049463,AL704825,AY137583,BC031292,BC039834,BC047883,BC084583,BC117221,BC143489,BC143491,BC143492,CA397330,CR600299,CR933696,DA508741,CA428539,DA720299,DC342364,NM_001191049 NP_001070674,NP_001070675,NP_001070676,NP_057295,NP_055748,EAX05906,EAX05907,EAX05908,EAX05909,EAX05910,EAX05911,EAX05912,BAA84923,BAA84924,BAA74928,AAF67836,AAF28953,AAF29012,BAG58628,CAH56418,AAN15221,AAH47883,AAH84583,AAI17222,AAI43490,AAI43492,AAI43493,CAI45995,O94979,BAC86336,NP_001177978 Hs.370024 ABP125|ABP130|DKFZp686N07171|HSPC275|HSPC334|KIAA0905|MGC90305|SEC31L1 OTTHUMP00000160810|OTTHUMP00000218817|OTTHUMP00000218819|OTTHUMP00000218820|OTTHUMP00000218821|OTTHUMP00000218822|OTTHUMP00000218824|OTTHUMP00000218825|SEC31-like 1|SEC31-like protein 1|SEC31-related protein A|protein transport protein Sec31A|protein-transport protein SEC31|sec31-like 1 (s. cerevisiae)|web1-like protein|yeast Sec31p homolog protein-coding 1317006 SEC31B SEC31 homolog B (S. cerevisiae) This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq] 14702039,12477932,10788476,8889548,16495487,16385451 25956 BC144312,BC144313,BM719543,BX640914,AL133352,CH471066,AF274863,AF279139,AK093637,AK098002,AK128343,AK289975,AK293081,AK294551,AK304277,AL080141,BC034946,BC044569,BC053949,NM_015490,BC071580 AAI44314,CAE45955,Q9NQW1,AAI48658,NP_056305,CAH73561,EAW49821,EAW49822,EAW49823,EAW49824,AAF78243,BAF82664,BAF85770,BAG57754,BAG65138,CAB45735 Hs.18889 DKFZp434M183|SEC31B-1|SEC31L2 SEC31-like 2|SEC31-like protein 2|SEC31-related protein B|protein transport protein Sec31B|secretory pathway component Sec31B-1 protein-coding 1351813 SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae) The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq] 17353931,18480044,16303743,15489334,14702039,12477932,11054417,10601334,10212142,9792704,9565615,9512475,8945469,19615732,9631292 29927 AC011311,CH471052,CQ783967,AF077032,AF084458,AF346602,AK001689,AK027423,AK027452,AK027454,AK027458,AK074706,NM_013336,AK074907,AK074928,AK075148,AK129816,AK299118,AL831940,AL832821,BC002951,BC029970,CR623601 NP_037468,EAW79324,EAW79325,EAW79326,EAW79327,CAF86948,AAD27765,AAD39847,AAK29083,BAG50960,BAG51318,BAG51323,BAG51324,BAG51326,BAG51989,BAC11283,BAC11298,BAC11434,BAG61173,CAD38592,CAI46127,P61619,AAI52928,AAI56689 Hs.518236 HSEC61|SEC61|SEC61A Sec61 alpha-1|protein transport protein SEC61 alpha subunit|protein transport protein Sec61 subunit alpha|protein transport protein Sec61 subunit alpha isoform 1|sec61 homolog protein-coding 1314281 SEC61A2 Sec61 alpha 2 subunit (S. cerevisiae) The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 20562859,15342556,14702039,12477932,11217851,10212142,9565615,16385451,19615732,9631292 55176 NR_024576,NM_001142627,NM_018144,NM_001142628,AC073160,CH471072,AF346603,AK001440,AK022027,AK022640,AK057532,NR_024577,AK292295,AK301841,BC026179,BP212860,BX645143,CR607709 NP_001136099,NP_060614,NP_001136100,EAW86323,EAW86324,EAW86325,EAW86326,AAK29084,BAA91692,BAB13955,BAB14148,BAG51930,BAF84984,BAG63284,AAH26179,Q8TC24,Q9H9S3,Q9NVQ7 Hs.112955 FLJ10578 Sec61 alpha form 2|protein transport protein Sec61 subunit alpha|protein transport protein Sec61 subunit alpha isoform 2|sec61 alpha-2 protein-coding 1312761 SEC61B Sec61 beta subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq] 19602593,9631292,8107851,18555783,17215517,17081983,16083285,15489334,15164053,12477932,10799540,10601334,10508919,10212142,9792704,9585408,9565615,9512475,9373149,8945469,8125298,16015337,20516149,20937808 10952 CH471105,AJ293399,AK223384,BC001734,CR456883,CR542159,L25085,NM_006808,AL137067 EAW58912,BAD97104,AAH01734,CAG33164,CAG46956,AAA19706,P60468,Q53FA5,NP_006799,CAC08000 Hs.191887 Sec61 complex, beta subunit|protein translocation complex beta|protein transport protein SEC61 beta subunit|protein transport protein Sec61 subunit beta protein-coding 1314869 SEC61G Sec61 gamma subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 16381901,15489336,15489334,12477932,11076863,11042152,10212142,9565615,8945469,8107851,9631292 23480 NM_014302,NM_001012456,AC074351,CH236957,CH471201,AF054184,AF086539,AK308617,AK311845,BC009480,BC051840,BU932672,CD385140,CR456979 NP_055117,NP_001012474,EAW50960,EAW50961,AAC99401,BAG34787,AAH09480,AAH51840,CAG33260,P60059,CAL38284 Hs.488282 SSS1 OTTHUMP00000159590|OTTHUMP00000209149|protein transport protein SEC61 gamma subunit|protein transport protein Sec61 subunit gamma protein-coding 1318878 SEC62 SEC62 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq] 1580863 14702039,16547154,15489334,12477932,10799540,10683767,9020021,17081983,16713569,18029348 7095 NM_003262,AB024586,AC008040,CH471052,AK025548,AK057365,BC003677,BC007040,BC012035,BC089399,BC105971,BX475495,BX537668,BX648539,CR596837,CR618317,D87127,U93239 NP_003253,BAB12685,EAW78527,EAW78528,EAW78529,EAW78530,EAW78531,EAW78532,EAW78533,AAH03677,AAI05972,BAA13254,AAB51391,Q3KR08,Q99442,ACE87559,ACE86871,AAH12035 Hs.592561 Dtrp1|FLJ32803|HTP1|TLOC1|TP-1 OTTHUMP00000213390|hTP-1|membrane protein SEC62, S.cerevisiae, homolog of|translocation protein 1|translocation protein SEC62 protein-coding 1312738 SEC63 SEC63 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq] 1580863 10799540,18224332,17456004,16835903,16344560,16303743,15489334,15133510,14702039,12477932,11023840,10543453,10219736,17353931,20095989,20408955,16341674 11231 NM_007214,NG_008270,AL024507,CH471051,AF100141,AF119883,AI559292,AJ011779,AJ420532,AK001465,AK027374,AK074835,AL137338,BC001153,BC009066,BC023598,BC047221,BC048287,BE972247,BM764168,DB049187,X75689 NP_009145,CAI19745,EAW48392,AAC83375,AAF69637,CAB46275,BAG51309,BAG52012,CAB70701,AAH23598,AAH47221,AAH48287,Q9P164,Q9UGP8 Hs.26904 ERdj2|PRO2507|SEC63L SEC63-like|translocation protein SEC63 homolog protein-coding 1343356 SECISBP2 SECIS binding protein 2 The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. [provided by RefSeq] 1580863 16962588,19265499,19106619,19004874,18948268,17846120,16782878,16381901,16228000,15489336,15489334,14702039,12477932,12403468,12095701,11230166,11118223,11076863,10637234,8889548,21084748,20877624,15231748,16713569,19467292,19602558,19803747,20378690 79048 NM_024077,NG_012177,AL160054,AL929575,BX000356,CH471089,AF380995,AK023078,AK090608,AK290182,AK299161,AK302852,AL136881,BC001189,BC023142,BC036109,BC099900,BM666620,BX648787,DR002073,AB208940 NP_076982,CAI41364,CAI95388,CAI95792,CAI95793,CAI41354,CAI41358,CAI95386,CAI95387,EAW62763,EAW62764,AAK57518,BAB14393,BAF82871,BAG61209,BAG64039,CAB66815,AAH01189,AAH23142,AAH36109,AAH99900,CAH10382,Q4V370,Q59H19,Q5HYY5,Q6AW84,Q7L1Z0,Q96T21,Q9BVI5,Q9H948,BAD92177,CAL37690,CAL38577 Hs.59804 DKFZp686C09169|SBP2 SECIS-binding protein 2|selenocysteine insertion sequence binding protein 2|selenocysteine insertion sequence-binding protein 2 protein-coding 1605418 SECISBP2L SECIS binding protein 2-like 12766061,16344560,15489334,12477932,9039502 9728 BM129242,CD678675,DA394911,NM_001193489,NM_014701,AC091073,CH471082,AK307480,AK308183,BC008635,BC033001,D87445 NP_001180418,NP_055516,EAW77360,EAW77361,EAW77362,AAH33001,BAA13386,Q93073 Hs.9997 KIAA0256 SECIS-binding protein 2-like|selenocysteine insertion sequence-binding protein 2-like protein-coding 1314321 SECTM1 secreted and transmembrane 1 This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq] 1302741,1580863 9480746,12761501,16344560,15489334,12477932,10652336,9373149,8125298,19423540,20406964,20438785 1302741 6398 NM_003004,AC132872,CH471099,AK223068,AK223104,AK290708,AK312980,BC017716,BI861812,CR591775,CR594118,CR594943,CR595956,CR606594,CR614987,CR620624,CR625551,DA589733,U77643 NP_002995,EAW89766,BAD96788,BAD96824,BAF83397,BAG35817,AAH17716,AAC52044,Q53G27,Q53G63,Q8WVN6,ACE87333,ACE86651 Hs.558009 K12 K12 protein|secreted and transmembrane protein 1|type 1a transmembrane protein protein-coding 1351792 SEDLP6 spondyloepiphyseal dysplasia, late, pseudogene 6 11031107 27192 AC009235 1352568 SEH1L SEH1-like (S. cerevisiae) The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 17363900,15146057,17360435,15489334,14702039,14517296,12477932,12228227,12196509,17207965,20562859,10601273,19615732 81929 AF431970,AF514996,AK056940,AK291226,AK314403,BC012430,BX538037,CB990796,CR603544,CR620641,NM_031216,NM_001013437,AP002449,CH471113,AF136976,AF255625 AAM76707,BAB71317,BAF83915,AAH12430,Q96EE3,AAM44214,ADQ32362,NP_112493,NP_001013455,EAX01530,EAX01531,AAG49437,AAM21169 Hs.301048 SEC13L|SEH1A|SEH1B|Seh1 SEH1-like|nucleoporin SEH1|nup107-160 subcomplex subunit SEH1|sec13 like protein|sec13-like protein protein-coding 1351070 SEL1L sel-1 suppressor of lin-12-like (C. elegans) 1580863,2317190 19204006,18811591,18711132,18502753,18314878,18264092,17967421,16412574,16331889,16331677,16303743,16186509,15342556,15307954,14729273,12975309,12754519,12553058,12477932,12030374,11809711,11544613,11349831,10746565,10496078,10051412,9858735,9417916,17822620,19524542,19706418,20416077 2317190 6400 NM_005065,AB024763,AF157516,AF198647,AL121769,AL136039,CH471061,AB020335,AF052059,AK075511,AY358651,BC040498,BC054336,BP358857,CR613747,U11037 NP_005056,BAA89204,AAF24176,AAL40905,EAW81344,BAA87904,AAF29413,AAQ89014,AAH40498,AAB52516,Q12916,Q3ZCU6,Q9UBV2,AAI72282,AAI72577 Hs.181300 IBD2|PRO1063|SEL1-LIKE|SEL1L1 Suppressor of lin 12 (sel-1), C. elegans, homolog of|protein sel-1 homolog 1|sel-1 (suppressor of lin-12, C.elegans)-like|sel-1 suppressor of lin-12-like 1|sel-1L|suppressor of lin-12-like protein 1 protein-coding 1322649 SEL1L2 sel-1 suppressor of lin-12-like 2 (C. elegans) 12477932,20379614 80343 NM_025229,AL109657,AL117333,AL354683,AK302170,AL137678,BC035741,DC398207 NP_079505,CAI22983,CAI22078,BAG63537,Q5TEA6 Hs.590879 C20orf50|DJ842G6.2|DKFZp434C1826|FLJ22324|dJ631M13.1 chromosome 20 open reading frame 50|protein sel-1 homolog 2|sel-1L2|suppressor of lin-12-like protein 2 protein-coding 736831 SELE selectin E The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq] 1580039,1580040,1580041,1625253,2313599,2313600,2313595,2313597,2313598,2313596,1580863 7541576,7538217,7536194,7533025,7523444,1701274,1694218,1689848,1375831,15194470,15735663,7509040,1703529,20680929,20587315,20691427,20713000,20855565,20941749,21037537,20495539,19118161,19064610,19056482,19028820,19021457,18991188,18974842,18974840,18973547,18828734,18794336,18791689,18761727,18726101,18707907,18704886,18692491,18677293,18676680,18649056,18633131,18613029,18597952,18597403,18593916,18590706,18580442,18513389,18484695,18401566,18375392,18217430,18212564,18197885,18191640,18182036,18094708,18020971,17996280,17991470,17963163,17956423,17954174,17939599,17875185,17706953,17706337,17684030,17578587,17563404,17515951,17452460,17392035,17389327,17372905,17167725,17143564,17142773,17057786,17036337,17020471,17014013,16982492,16980970,16974056,16963035,16916660,16908800,16892455,16843446,16820586,16773720,16756647,16710414,16565092,16554320,16544732,16501492,16433632,16426244,16344560,7680663,12960351,8609175,18029551,9312078,9290466,2466335,19479237,19420919,19420105,19414551,19361981,19263529,19240957,19238444,19237221,19225544,19212205,19191721,19139603,19131662,16269612,16080806,16061120,16002039,15979159,15917220,15871853,15833936,15784173,15736116,15666579,15593054,15584003,15560890,15515123,15488708,15387376,15331359,15308783,15304054,15299021,15254658,15187162,15179350,15167972,15148373,15086468,15083893,15080580,15076188,15076187,15013273,15009098,14988223,14984317,14763917,14734737,14714557,14691583,14607629,14592840,14592723,14587643,14568956,14557872,14534081,12940514,12898464,12871600,12820726,12792758,12788528,12768436,12738381,12698264,12673844,12649084,12626663,12595908,12522014,12499405,12477932,12421968,12388172,12200386,12200076,12186696,12175121,12172576,12172318,12165498,12086338,12082592,12082590,12036529,12027924,12020443,12011765,11983205,11981814,11948013,11936588,11935152,11929779,11882338,11882337,11859093,11847011,11828340,11827962,11776680,11764211,11714857,11697721,11602579,11575218,11575217,11466561,11404363,11402070,11359462,11341749,11168027,11097335,10982036,10477700,10419878,10391210,9933738,9920928,9597096,9269771,9128259,9024699,8621728,8557254,7694691,7693046,7681016,20430730,19913121,20485444,20536507,20602615,20603037,20607758,20622166,20628086,20673868,20796317,19249917,19538882,18611928,20193033,20445017,18606703,20937831,20044088,18930765,19136145,19170196,19417018,19422386,19423540,19536175,19548631,19559392,19564823,19578796,19670701,19692168,19701669,19729601,19729612,19885579,19942746,19948975,19949084,19996987,20004427,20010946,20056442,20191078,20227257,20406964,20416077,20438785,20452482,20508517 1580039,1580040,1580041,1625253,2313599,2313600,2313595,2313597,2313598,2313596 6401 NM_000450,NG_012124,AF540378,AL021940,CH471067,M61892,M61893,AK314214,AY367062,BC131551,BC142677,BC142711,DB209354,M24736,M30640 NP_000441,AAN01237,CAA17434,CAI19357,CAI19358,CAI19359,CAI19360,EAW90860,AAA52375,BAG36888,AAQ67702,AAI31552,AAI42678,AAI42712,AAA52376,AAA52377,P16581,Q5TI75,Q6ULR7 Hs.82848 CD62E|ELAM|ELAM1|ESEL|LECAM2 CD62 antigen-like family member E|E-selectin|ELAM-1|OTTHUMP00000032746|OTTHUMP00000032747|OTTHUMP00000032748|OTTHUMP00000032749|endothelial adhesion molecule 1|endothelial leukocyte adhesion molecule 1|leukocyte endothelial cell adhesion molecule 2|leukocyte-endothelial cell adhesion molecule 2 protein-coding 733754 SELENBP1 selenium binding protein 1 This gene product belongs to the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. It has been proposed that the effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins. The exact function of this gene is not known. [provided by RefSeq] 1580863 20332323,1540595,17207965,18029348,1553752,9027582,19118533,18435490,18163446,16645984,16380993,16189514,16169070,15108003,14702039,12477932,10799528,8453708,8157642,1602151,19596560,19615732,19896693,19924303,20615253,20628624 8991 NM_003944,AL391069,CH471121,AK023875,AK296661,AK298355,AK303815,AK309264,AK310044,AK315643,BC009084,BC032997,CR456852,CR593016,CR594197,CR598460,CR599193,CR600816,CR600884,CR603742,CR606071,CR609192,CR610604,CR612007,CR614768,CR616811,CR620090,CR623419,CR625298,CR625435,U29091 ADQ32717,NP_003935,CAH70328,CAO72163,CAO72164,CAO72165,CAO72166,CAO72167,EAW53443,EAW53444,EAW53445,BAB14709,BAG59258,BAG60599,BAG64765,BAG38010,AAH09084,AAH32997,CAG33133,AAB02395,Q13228,Q9H8A8,ABM81657 Hs.632460 FLJ13813|LPSB|SBP56|SP56|hSBP|hSP56 56 kDa selenium-binding protein|OTTHUMP00000196309|selenium-binding protein 1 protein-coding 1604559 SELI selenoprotein I This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq] 18665829,17132865,16344560,16189514,14702039,12775843,12477932,11214970 85465 NM_033505,AC010896,CH471053,AB051511,AK023242,AK091340,AK092710,AK095620,BC021229,BE963795,BF669898,BK001426,DA619246,DA905145,EH350337 NP_277040,AAY14646,EAX00690,EAX00691,EAX00692,EAX00693,BAB21815,AAH21229,DAA01514,Q8WU57,Q9C0D9 Hs.189073 KIAA1724|SELI|SEPI OTTHUMP00000200812|ethanolaminephosphotransferase 1|ethanolaminephosphotransferase1|hEPT1|selenoprotein I protein-coding 1603383 SELK selenoprotein K This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is localized to the endoplasmic reticulum and is highly expressed in the heart, where it may function as an antioxidant. [provided by RefSeq] 18029348,15489334,14702039,12775843,12477932,11042152,21048031,16962588,16341674 58515 NM_021237,AC012467,CH471055,AF085359,AF161415,AF537132,AK123406,AK289594,BC013162,BM762385,CR606377 NP_067060,EAW65301,AAD40194,AAF28975,AAN61473,BAF82283,AAH13162,Q9Y6D0 Hs.58471,Hs.640242 HSPC030|HSPC297|MGC17057 OTTHUMP00000213231|selenoprotein K protein-coding 1342543 SELL selectin L SELL is a cell surface component that is a member of a family of adhesion/homing receptors which play important roles in leukocyte-endothelial cell interactions. The molecule is composed of multiple domains: one homologous to lectins, one to epidermal growth factor, and two to the consensus repeat units found in C3/C4 binding proteins. [provided by RefSeq] 1580863,2303708 7680663,10747985,1692315,12588680,10882119,19419934,19258923,19240957,19212205,19129194,19118161,19088176,19074885,19064610,18974842,18829897,18713968,18713749,18665829,18619508,18582506,18496641,18385135,18375392,18250165,18191640,18182036,18089680,18032547,18028430,17954174,17890399,17765649,17706337,17703412,17698668,17525255,17515951,17465998,17407075,17056762,17055225,17028146,16982492,16974056,16916660,16740600,16738933,16690519,16585636,16565092,16357481,16352650,16335952,16270299,15831305,15776384,15506984,15470072,15192100,15178693,15093751,14737745,14615387,14597772,14592723,14585903,14576059,14533031,12918706,12874338,12871600,12844406,12738381,12736247,12609846,12595908,12532021,12496379,12477932,12431911,12370391,12202158,12200386,12200076,12186696,12165498,12147693,12144128,12063026,12042326,12036888,11907045,11828340,11821431,11466384,11064106,9373149,8125298,7488174,2664786,2663882,2509939,2473156,1717161,1376638,1375831,10449768,11706008,9024699,10950950,9625756,9538010,10377245,8986819,12889478,15249540,7539755,20507883,21037537,20708610,19913121,20485444,20628086,20925194,10725346,16344560,18973547,19052753,19451621,19462221,19536175,19654311,19670701,19837408,19954409,20065025,20212041,20220571,20306662,20503287,20193033,20469932,16712791,18606703 2303708 6402 AL021940,AY233976,CH471067,M32406,M32407,M32408,M32409,M32410,M32411,M32412,M32413,M32414,AI253539,AJ246000,AK225713,NM_000655,AK298705,AK312673,AY367061,BC020758,DB482055,M25280,X16070,X16150,X17519,BP393094,CB164568,DB271854,DC378123,NG_016132,NR_029467 NP_000646,CAI19356,AAO48272,EAW90855,EAW90856,EAW90857,EAW90858,EAW90859,AAB60700,CAB55488,BAG60862,BAG35555,AAQ67701,AAH20758,AAC63053,CAA34203,CAA34275,CAB43536,CAB43537,P14151,Q6ULR8,Q8WW79,Q9UJ43,ABM82302,ABM85480 Hs.82848 CD62L|LAM-1|LAM1|LECAM1|LEU8|LNHR|LSEL|LYAM1|Leu-8|Lyam-1|PLNHR|TQ1|hLHRc CD62 antigen-like family member L|L-selectin|gp90-MEL|leukocyte adhesion molecule 1|leukocyte surface antigen Leu-8|leukocyte-endothelial cell adhesion molecule 1|lymph node homing receptor|lymphocyte adhesion molecule 1|pln homing receptor protein-coding 1603181 SELM selenoprotein M This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This gene is expressed in a variety of tissues, and the protein is localized to the perinuclear structures. [provided by RefSeq] 15489334,12477932,11839807,18029348,21048031 140606 NM_080430,AC005005,CH471095,AY043487,BC013421,BC030236,BC042299,BC053846,BC068004 NP_536355,EAW59934,EAW59935,AAK95397,AAH13421,AAH30236,AAH68004,Q8WWX9 Hs.55940 MGC40146|SEPM OTTHUMP00000199395|selenoprotein M|selenoprotein SelM protein-coding 1605929 SELO selenoprotein O This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq] 15489334,15461802,12775843,12477932,10591208 83642 NM_031454,AL022328,CH471138,AF274946,AY324823,BC001099,BC020510,BC032384,BC051758,BC110866,CR456464,CR611149,CR615532 NP_113642,EAW73504,EAW73505,EAW73506,AAK07523,AAP85540,AAH01099,AAH20510,AAI10867,CAG30350,Q6ICA4,Q9BVL4,Q9BZU0 Hs.365405 MGC131879 selenoprotein O protein-coding 737162 SELP selectin P (granule membrane protein 140kDa, antigen CD62) This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq] 1580074,1580075,2312304,2312314,2312302,2312303,2312291,2312292,2312307,2312309,2312308,2312294,2312310,1599904,1580863,729766 20079524,18050247,16648968,11936588,16636497,16633357,16352650,16344560,16332977,16263699,16257118,16184405,16139336,16125711,16100264,16014051,15916851,15885758,15769472,15705928,15583743,15543334,15497463,15353601,15351857,15316595,15299021,15297307,15231569,15221968,15217824,15133030,15080580,15059609,15059608,15026421,14764537,14681304,14680834,14676308,14630802,14615387,14592723,14568956,14557872,12945872,12911583,12888879,12871600,12871503,12860908,12858167,12847232,12783114,12757775,12736150,12477932,12468916,12384485,12200386,12165563,12082590,12036880,12036879,11981814,11885026,11861803,11597943,11247301,11081633,11040019,10950950,10733515,10713099,10499919,10391209,9668170,9128259,8901515,7693674,7684381,7508745,7505680,2472431,1717161,1705568,1694218,1375831,15972662,20435690,21071696,8467233,7680663,16514062,9129046,11237770,15633604,2466574,9290466,1701178,15297306,1377048,19590054,19559392,19536175,19525192,19479237,19423540,19404301,19395438,19361981,19332769,19280705,19264679,19263529,19262138,19247692,19241310,19240957,19228864,19212907,19138666,19132251,19131662,19082691,19074885,19064610,19047793,19036374,19028820,18974842,18974840,18828734,18818407,18713749,18649055,18600034,18597952,18580442,18576930,18550060,18539899,18535285,18497306,18449419,18390200,18383329,18363816,18363812,18333373,18217430,18191640,18182036,18080800,18054198,18034324,17982310,17945332,17944986,17939599,17890399,17849054,17710630,17706337,17702963,17700216,17698171,17634906,17598012,17597069,17554801,17510305,17509958,17498578,17497038,17488661,17473568,17437524,17420019,17393020,17279322,17275499,17204688,17143564,17126824,17074110,17027652,16982492,16973503,16935700,16877367,16860607,16764881,16683915,19913121,20485444,20536507,20586826,20602615,20603037,20628086,20673868,20153702,20669347,20445017,19948214,21116278,20855565,1435334,16390014,16928730,17064811,19105599,19106004,19136145,19493436,19578796,19638712,19656773,19729601,19812370,19874461,19913879,19948975,20010946,20034466,20051472,20056442,20097880,20167578,20227257,20376705,20406964,20438785,20452482 1580074,1580075,2312304,2312314,2312302,2312303,2312291,2312292,2312307,2312309,2312308,2312294,1599904,729766 6403 NG_012125,AF542391,AL022146,CH471067,L01574,M60222,M60234,Z99572,NM_003005,AK312884,AY367063,BC028067,BC068533,DA926598,DA994564,M25322 CAI23059,NP_002996,AAN06828,CAI22751,CAI22752,CAI22753,CAI22754,CAI22755,CAI22756,CAI22757,CAI22758,EAW90850,EAW90851,EAW90852,EAW90853,EAW90854,AAC31762,AAA35910,CAI23057,CAI23058,CAI23060,CAI23061,CAI23062,CAI23063,CAI23064,BAG35732,AAQ67703,AAH28067,AAH68533,AAA35911,P16109,Q6NUL9,Q6ULR6,Q8N1E9 Hs.73800 CD62|CD62P|FLJ45155|GMP140|GRMP|LECAM3|PADGEM|PSEL CD62 antigen-like family member P|GMP-140|OTTHUMP00000032609|OTTHUMP00000032610|OTTHUMP00000032615|OTTHUMP00000032616|OTTHUMP00000032620|OTTHUMP00000032631|OTTHUMP00000032632|OTTHUMP00000032633|P-selectin|granule membrane protein 140|granulocyte membrane protein|leukocyte-endothelial cell adhesion molecule 3|platelet activation dependent granule-external membrane protein|platelet alpha-granule membrane protein protein-coding 1317472 SELPLG selectin P ligand SELPLG is the high affinity counter-receptor for P-selectin on myeloid cells and stimulated T lymphocytes. As such, it plays a critical role in the tethering of these cells to activated platelets or endothelia expressing P-selectin. The organization of the SELPG gene closely resembles that of CD43 and the human platelet glycoprotein GpIb-alpha both of which have an intron in the 5-prime-noncoding region, a long second exon containing the complete coding region, and TATA-less promoters. [provided by RefSeq] 1580863 10834846,7505206,19543284,19542463,19404397,19395438,19262138,19074885,18773738,18713749,18519846,18509085,18497306,18485118,18452987,18451333,18363812,18250165,18182036,17947642,17910894,17890399,17827388,17597069,17545190,17510705,17420019,17372146,17346310,17322099,17221329,17181632,16633357,16547281,16501095,16269612,16257118,16100264,16039046,16024226,15926890,15925831,15843584,15522894,15497463,15489334,15488708,15466853,15459589,15386532,15217824,15187162,15059608,15026421,15001428,14702039,14678816,14641238,14615387,14592840,14507929,12879153,12874338,12736689,12736247,12595306,12529243,12477932,12393521,12387735,12377939,12354382,12223514,12189248,12115638,12036880,11961238,11929779,11916843,11843835,11520793,10807781,10770806,10725346,10713099,10599889,9804815,9414280,9373149,9353122,9128259,8839831,8621728,8125298,7585950,7585949,7559387,7541799,7521878,15060624,19628338,19913121,20558823,20586826,20628086,20690162,20585324,20445017,21044367,17064811,17558413,18196517,19353220,19423540,19665434,19696154,19875629,19913879,20051472,20376705,20406964,20438785,9486531 6404 AC007569,AC008119,AY331789,CH471054,CQ785370,U25956,AK098315,AK127638,AK225644,AK290395,AK295238,AK298742,NM_003006,BC029782,CA427270,U02297 NP_002997,AAP81163,EAW97824,EAW97825,CAG14915,AAA74577,BAC05283,BAC87066,BAF83084,BAG58231,BAH12863,AAH29782,AAC50061,Q14242,Q6ZS88,ABM83043,ABM86239 Hs.591014 CD162|CLA|PSGL-1|PSGL1 P-selectin glycoprotein ligand 1|cutaneous lymphocyte-associated associated antigen protein-coding 1601754 SELS selenoprotein S This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies suggest that this protein may regulate cytokine production, and thus play a key role in the control of the inflammatory response. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 15063746,15215856,17210132,17374524,19336475,19144102,18974842,18728048,18710632,18675776,18625033,18068137,18029348,17880573,17661913,17641917,16574427,16227999,16186510,16186509,15489334,15161744,14702039,12775843,12663463,12477932,12031974,10931946,9373149,8889548,8125298,7829101,18199748,16289116,20619427,17872946,19398551,19948975,20114070,20378690,21052528 55829 AC023024,CH471101,AA487772,AF157317,AF328864,AI673590,AK026455,AK097011,AK225955,AK314723,AY324824,AY618665,BC005840,BC107774,BG829960,BI494034,BQ014190,BU740863,CR595854,CR599218,NM_203472,NM_018445,NG_013322 NP_060915,EAX02295,AAF67483,AAK15708,AAP85541,AAT46592,AAH05840,AAI07775,Q6GYA4,Q9BQE4,NP_982298 Hs.32148 AD-015|ADO15|MGC104346|MGC2553|SBBI8|SEPS1|VIMP VCP-interacting membrane protein|selenoprotein S protein-coding 1602000 SELT selenoprotein T This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq] 10567350,16303743,15489334,12975309,12775843,12477932,9110174,8619474,16169070 51714 AC069236,CH471052,AF131856,AF195141,AK075006,AK300315,AY358095,AY358096,NM_016275,BC006012,BC008411,BC009556,BC009611,BC026350,BC036738,BC071699,BE221894,CD707391,CR457154,CR606500,CR607479,CR624661 Q6IAK0,NP_057359,EAW78827,EAW78828,EAW78829,AAD20063,AAF13696,BAG52048,BAG62067,AAQ88462,AAQ88463,AAH06012,AAH08411,AAH09556,AAH09611,AAH26350,AAH36738,AAH71699,CAG33435,P62341 Hs.369052 OTTHUMP00000216688|selenoprotein T protein-coding 1603489 SELV selenoprotein V This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq] 15489334,12775843,12477932,21048031 348303 NM_182704,AC011500,CH471126,AY324825,BC117331 NP_874363,EAW56907,AAP85542,AAI17332,P59797 Hs.319284 selenoprotein V protein-coding 730921 SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq] 1580863 8269517,18831963,18818766,18625544,18272814,18160633,18056484,17989695,17684500,17631638,17607942,17569671,17390026,17369353,16791896,16684957,16672672,16424390,16380453,16330548,16085543,15831706,15517571,15485501,15080899,14656993,14500350,12879061,12853948,12730958,12690205,12610647,12456642,10520994,10196546,9331348,8889548,7748561,15550623,20051117,20382125,11604131,12477932,18053124,18787945,19296128,19480842,19684614,19817889,19855168,19957197,20379614,19886821,20655307 10371 NM_006080,NG_011489,AC004451,AC004848,AC006322,AC073221,CH236949,CH471091,CS067216,AK289954,BC111416,BM723807,BU186364,BX491494,CR748125,DR002146,L26081 NP_006071,AAS00353,AAC78622,AAS02028,AAP22350,EAL24185,EAW76982,CAI84571,BAF82643,AAI11417,AAA65938,Q14563,Q75MQ2,Q86UJ2 Hs.252451 Hsema-I|Hsema-III|MGC133243|SEMA1|SEMAD|SEMAIII|SEMAL|SemD|coll-1 OTTHUMP00000208884|collapsin 1|semaphorin D|semaphorin III|semaphorin L|semaphorin-3A|semaphorin-like protein-coding 1320778 SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B The semaphorin/collapsin family of molecules plays a critical role in the guidance of growth cones during neuronal development. The secreted protein encoded by this gene family member is important in axonal guidance and has been shown to act as a tumor suppressor by inducing apoptosis. [provided by RefSeq] 1580863 8633026,19367581,18985860,18922901,18757406,18458115,18356290,17452250,15831529,15489334,15273288,14702039,12810670,12477932,11922394,11809707,11717452,11085536,10196546,8603390,7748561,19548530,19683737,20088387,20124444 7869 NM_001005914,CH471055,CS067218,U73167,AB083186,AB209322,AF217991,AK092182,AK098329,AK293678,AK308875,BC009113,NM_004636,BC013975,BC024220,BC044602,BI603095,CR603294,U28369 NP_004627,NP_001005914,EAW65062,EAW65063,EAW65064,EAW65065,EAW65066,EAW65067,CAI84572,AAC02731,BAB88870,BAD92559,AAG17234,BAC03823,BAG57120,AAH09113,AAH13975,AAH24220,AAH44602,AAD09138,Q13214,Q59FY7,Q6PI51,Q8NAS4,Q9HBR1,ACE87700,ACE87012 Hs.82222 FLJ34863|LUCA-1|SEMA5|SEMAA|SemA|semaV sema A(V)|sema V|semaphorin A|semaphorin V|semaphorin-3B|semaphorin-V protein-coding 1319638 SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 1580084,1580085,1580863 9168980,9405678,19666519,17390026,15609325,15489334,15077297,12853948,12730958,12690205,12477932,12174914,9331348,8889548,7829101,7748561,19414484,19915008 1580084,1580085 10512 AC004880,AC073850,AC093683,CH236949,CH471091,CS067220,AB000220,AF086506,AK299322,AK304294,AK312478,AL135601,BC030690,BF983184,BI494187,BU740462,D32000,NM_006379 NP_006370,AAS00351,AAS07489,EAL24190,EAW76995,CAI84573,BAA32398,BAG61330,BAG65151,BAG35382,AAH30690,Q75L25,Q75MX0,Q99985,ABM81773,ABM84927 Hs.269109 SEMAE|SemE sema E|semaphorin E|semaphorin-3C|semaphorin-E protein-coding 1348225 SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 1580863 19054571,18818766,15489334,15329371,12975309,12853948,12690205,12477932,20684831 223117 NM_152754,AC004957,CH236949,CH471091,AK309116,AY358937,BC029590,BX648652 NP_689967,EAL24184,EAW76974,EAW76975,EAW76976,EAW76977,AAQ89296,AAH29590,O95025,ABM82491,ABM85679 Hs.201340 MGC39708|Sema-Z2|coll-2 collapsin 2|semaphorin-3D protein-coding 1322177 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E Semaphorins, such as SEMA3E, are characterized by a conserved domain of about 500 amino acids. These proteins are involved in embryonic development, and some behave as neural guidance molecules.[supplied by OMIM] 1580095,1580863 18974298,15386596,9515811,18818766,15235037,12853948,12690205,9205841,20664171,12477932,15550623,16344560,20029409,20379614 1580095 9723 NM_012431,AC004954,AC006204,AC079799,AC079987,CH236949,CH471091,CS067222,AB002329,AK297209,AK303925,BC140706,BC144338,BC152458,DA722912,DB215551,NG_021242,NM_001178129 NP_036563,AAC69513,AAS07488,AAS07487,EAL24186,EAW76983,CAI84574,BAA20789,BAG59693,BAG64853,AAI40707,AAI44339,AAI52459,O15041,NP_001171600 Hs.528721 KIAA0331|M-SEMAH|M-SemaK|SEMAH|coll-5 OTTHUMP00000206420|semaphorin-3E protein-coding 1318327 SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues (Kolodkin et al., 1993 [PubMed 8269517]). Sequence comparisons have grouped the secreted semaphorins into 3 general classes, all of which also have an immunoglobulin domain. The semaphorin III family, consisting of human semaphorin III (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins A, D, and E, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993 [PubMed 8402908]) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995 [PubMed 7637782]), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.[supplied by OMIM] 1580863 8786119,19177200,18818766,18660502,17693432,17569671,17308083,15967098,15862967,15520858,15489334,12845630,12659673,12477932,10702410,10095013,9883722,8889548,8649831,8633026,8402908,8269517,7637782,7566098,9331348,15550623,18476556,20124444,15814794,20036365,16169070,19657188,19683737,19790074,19851296,20198310,20198315,20388805 6405 NM_004186,AC000063,AC104450,CH471055,AA378582,AB209259,BC042914,CB240860,U32171,U32172,U33920,U38276 NP_004177,AAB46344,EAW65043,EAW65044,EAW65045,EAW65046,BAD92496,AAH42914,AAB06011,AAB06012,AAC50568,AAB18276,Q13275,Q59G50 Hs.32981 SEMA-IV|SEMA4|SEMAK OTTHUMP00000210658|OTTHUMP00000210669|sema III/F|sema IV|sema domain, immunoglobulin domain (Ig), short basic domain, secreted, 3F|semaphorin III/F|semaphorin IV|semaphorin-3F protein-coding 1601989 SEMA3G sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 18818766,18781179,15489334,14702039,20947821,12477932,11214971,19913121,20628086 56920 CH471055,AB029496,AK024425,BC098104,BC098137,BC099724,AC006208,NM_020163,GN344113 EAW65225,BAA98132,BAB15715,AAH98104,AAH98137,AAH99724,Q9NS98,NP_064548,CAY55992 Hs.59729 FLJ00014|MGC119473|sem2 semaphorin sem2|semaphorin-3G protein-coding 1312188 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A SEMA4A is a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in guidance of axonal migration during neuronal development and in immune responses.[supplied by OMIM] 737633,1580863 18334927,17318185,20237496,12893810,12563299,12477932,12374982,7748561,20801516,16344560,12906260,16199541,15489334,14702039,12975309 737633 64218 NM_022367,AL135927,CH471121,AB029394,AK022349,AK022416,AK091127,AK290353,AK296693,AK315547,AY358531,BC020974,BX640891,CR623694,AA761091,DA409501,DA508826,DC332598,NM_001193300,NM_001193301,NM_001193302,NG_027683 NP_071762,CAI15528,CAI15529,CAI15530,CAI15531,CAI15532,CAI15533,EAW52992,EAW52993,EAW52994,EAW52995,BAB20087,BAB14018,BAG52288,BAF83042,BAG59287,BAG37925,AAQ88895,AAH20974,CAE45942,Q5TCI6,Q5TCJ5,Q5TCJ6,Q5TCJ7,NP_001180229,NP_001180230,NP_001180231,Q6MZT6,Q9H3S1,Q9HA40 Hs.408846 CORD10|FLJ12287|RP11-54H19.2|RP35|SEMAB|SEMB OTTHUMP00000015918|OTTHUMP00000016567|OTTHUMP00000016570|sema B|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4A|semaphorin B|semaphorin-4A|semaphorin-B protein-coding 1317317 SEMA4B sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B 1580863 19913121,20628086,17081983,16335952,15489334,15340161,14702039,12975309,12477932,12123608,11214970,7748561,15978582,17213806 10509 NM_020210,NM_198925,AC091167,CH471101,AB051532,AF258561,AK026108,AK026133,AK027083,AK289991,AL390080,AL390081,AL390082,AY358392,BC010701,BC017658,BC019013,BC094849,BC110853,BC126438,BC144141,BX537671,CD109794,CR605527,AY445887 NP_064595,NP_945119,EAX02084,EAX02085,EAX02086,BAB21836,AAG23764,BAB15372,BAF82680,CAB98204,CAB98205,CAB98206,AAQ88758,AAR15707,AAH10701,AAH17658,AAH94849,AAI10854,AAI26439,CAD97806,Q2NL81,Q4VBY2,Q7Z3N1,Q8WY86,Q9NPR2,ADR83274 Hs.474935 KIAA1745|MGC131831|SEMAC|SemC sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4B|semaphorin-4B protein-coding 1354487 SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 1580863 15489334,12975309,12477932,11214970,11162505,11134026,10318831,9464278,7656991,15978582,17498836 54910 NM_017789,AC092636,CH471207,AB051526,AF258577,AF370374,AK000376,AK075388,AK126512,AY358842,BC017476,BC062984,BC109103,BC109104,BI518922 NP_060259,AAY14967,EAW71325,EAW71326,EAW71327,BAB21830,AAG23780,AAQ15210,BAA91124,BAC11588,BAG54340,AAQ89201,AAH17476,AAH62984,AAI09104,AAI09105,Q53RE7,Q6P5A5,Q71RG3,Q8NBN9,Q8WY71,Q9C0C4,Q9NX92 Hs.516220 FLJ20369|KIAA1739|M-SEMA-F|MGC126382|MGC126383|SEMACL1|SEMAF|SEMAI M-Sema F|semaphorin-4C protein-coding 1321523 SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 1580863 15613544,11254688,8876214,18025083,17520683,17244710,17213182,17081983,16754882,16263699,16055703,15632204,15489334,15164053,14707103,14702039,12958590,12882840,12539042,12477932,12406905,11937491,11254687,11181995,11114375,10520995,8969198,8955171,1530858,20877282,12730235,16188938,17786190,19805522,19957197,20237496,20379614 10507 NM_006378,NM_001142287,AL590233,AL929575,CH471089,AB210030,AI055975,AJ420442,AK090804,AK091601,AK097056,AK128342,AK293749,AK316107,BC054500,BC137515,BC137518,BX648216,DT220478,U60800 NP_006369,NP_001135759,CAI17379,CAI43250,CAI95794,EAW62765,EAW62766,EAW62767,EAW62768,EAW62769,EAW62770,EAW62771,EAW62772,BAE06112,BAC04938,Q4LE41,Q92854,BAG57171,BAH14478,AAH54500,AAI37516,AAI37519,AAC50810 Hs.494406 C9orf164|CD100|FLJ33485|FLJ34282|FLJ39737|FLJ46484|M-sema-G|MGC169138|MGC169141|SEMAJ|coll-4 A8|BB18|GR3|OTTHUMP00000021622|OTTHUMP00000208931|OTTHUMP00000208950|OTTHUMP00000208951|OTTHUMP00000208957|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4D|semaphorin-4D protein-coding 1345838 SEMA4E sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4E 10506 735857 SEMA4F sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 69991,1580863 10051670,19056885,11256614,16381901,16303743,15815621,15489336,15489334,12477932,11901358,11483650,11230166,11076863,9856463 69991 10505 NM_004263,AC007387,CH471053,CS051179,AB021292,AB022317,AF053369,AK075384,AK291023,AK304358,AK308166,AK312728,AL136552,BC018361,BC038411 NP_004254,EAW99605,EAW99606,EAW99607,EAW99608,CAI72085,BAA75631,AAF80660,BAC11584,BAF83712,BAH14167,CAB66487,AAH18361,AAH38411,O95754,Q9P169,CAL38610,ABM86603 Hs.25887 M-SEMA|PRO2353|SEMAM|SEMAW|m-Sema-M sema M|sema W|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4F|semaphorin 4f|semaphorin M|semaphorin-4F|semaphorin-M|semaphorin-W protein-coding 1321336 SEMA4G sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene and the gene for mitochondrial ribosomal protein L43 overlap at map location 10q24.31 and are transcribed in opposite directions. [provided by RefSeq] 1580863 19047128,16189514,15489334,15164054,12593985,12477932,12471249,12432760,10997877,15978582,16385451 57715 NM_017893,AL133215,CH471066,AB046839,AK000597,AK297431,AW161452,BC020960,BC051030,BC053507,BC110382,BC128579 NP_060363,CAB92805,CAI10916,EAW49801,EAW49802,EAW49803,EAW49804,BAB13445,BAA91278,BAG59859,AAH20960,AAH51030,AAI10383,AAI28580,Q9NTN9,Q9NWU8 Hs.591923 FLJ20590|KIAA1619|MGC102867 semaphorin-4G protein-coding 1318544 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A Members of the semaphorin protein family, such as SEMA5A, are involved in axonal guidance during neural development (Adams et al., 1996 [PubMed 8817451]).[supplied by OMIM] 1580863,1580101 9049630,9464278,19329067,18950607,18628988,18519826,18029348,17028446,16481103,16344560,16252231,15489334,15372022,15302935,15218527,14702039,12477932,8889548,8817451,20073063,19913121,20628086,19812673,19957501,20379614,20696765 1580101 9037 NM_003966,AC004615,AC021088,AC022446,AC027335,AC027336,AC034214,AC091906,CH471102,AF009314,AF056434,AK022877,AK293441,AK307587,BC115696,BM669539,CR617973,CX788776,DA336109,U52840,NG_016410 NP_003957,AAC14668,EAX08078,EAX08079,BAG56944,AAI15697,AAC09473,Q13591 Hs.27621 FLJ12815|SEMAF|semF sema F|semaphorin F|semaphorin-5A|semaphorin-F protein-coding 1318955 SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B Members of the semaphorin protein family, such as SEMA5B, are involved in axonal guidance during neural development (Adams et al., 1996 [PubMed 8817451]).[supplied by OMIM] 1580863 19463192,16344560,14702039,12975309,12477932,10819331,8817451,19913121,20628086,20379614 54437 NM_001031702,AC078794,AC083797,AC109130,CH471052,AB040878,AK001234,AK091481,AK291407,AK294528,AK295619,AK309834,AK309848,AY358124,BC002776,BC077726,CR593104,DA797213 EAW79458,NP_001026872,EAW79457,BAA95969,BAA91570,BAF84096,BAH11799,BAH12129,AAQ88491,AAH77726,Q9P283 Hs.210870 FLJ10372|KIAA1445|SEMAG|SemG OTTHUMP00000179161|OTTHUMP00000215810|semaphorin-5B protein-coding 1313551 SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 1302316,1580863 10993894,19578876,18187809,17671748,16436660,16303743,14702039,12477932,12421765,10718198,9204478,19451621,20379614 1302316 57556 AC008524,CH471086,AB037789,AF225425,AF279656,AK027439,AK027471,AK027501,AK027505,AK027654,AK027867,AK074975,AK096337,AK315143,BC032619,CX164544,NM_020796,AC010296,AC027304 NP_065847,EAW48934,EAW48935,EAW48936,EAW48937,EAW48938,BAA92606,AAG09727,AAG29378,BAB55111,BAB55136,BAB55158,BAB55269,BAB55418,BAC11326,BAG53263,BAG37591,Q8NC49,Q96JU9,Q96SM8,Q96SW4,Q96SY4,Q96T04,Q9H2E6,Q9HBL2,AAI56174,AAI72468 Hs.156967 HT018|KIAA1368|SEMA|SEMA6A1|SEMAQ|VIA OTTHUMP00000223010|SEMA6A-1|sema VIa|semaphorin 6A-1|semaphorin VIA|semaphorin-6A|semaphorin-6A-1 protein-coding 731900 SEMA6B sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq] 1580863 15340161,15177567,12975309,11350127,16344560,12477932 10501 NM_032108,AC011498,CH471139,AB022433,AB209278,AF216389,AF293363,AK300037,AV701490,AY358939,BC142617,CR591947,AI825930,DA818632,DB257858 NP_115484,EAW69206,EAW69207,EAW69208,EAW69209,EAW69210,BAB20669,BAD92515,AAF87661,AAK16831,BAG61848,AAQ89298,AAI42618,Q59G31,Q9BXR8,Q9H3T3 Hs.465642 SEM-SEMA-Y|SEMA-VIB|SEMAN|semaZ semaphorin VIB|semaphorin Z|semaphorin-6B protein-coding 732717 SEMA6C sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C This gene product is a member of the semaphorin family of proteins. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq] 633916,1580863 19054571,16710414,12878157,12477932,12110693,11347906,11245885,9110174,8619474,16344560 633916 10500 NM_030913,AL592424,CH471121,AB022434,AB058772,AF055020,AF339152,AF339153,AF339154,AK302862,AK311613,AL122064,AU279414,BC114521,BC114623,BE253393,DA787858,NM_001178061,NM_001178062 NP_112175,CAI16376,CAI16377,CAI16378,EAW53469,EAW53470,EAW53471,EAW53472,BAB20670,BAB47498,AAC09365,AAL72098,AAL72099,AAL72100,BAG64046,CAB59243,AAI14522,AAI14624,O60650,Q1RMY5,Q24JR3,Q5JR72,Q5JR73,Q9H3T2,Q9UFI1,NP_001171532,NP_001171533 Hs.516316 SEMAY|m-SemaY|m-SemaY2 sema Y|semaphorin 6c|semaphorin-6C|semaphorin-Y protein-coding 1605040 SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Six transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. 11102867,14977921,14702039,12477932,12110693,11842242,10819331,16715077,17143962,19913121,20628086 80031 NM_001198999,AF389428,AF389429,AF389430,AK021660,AK022747,AK022831,AK290032,BC004330,BC150253,NM_153618,NM_020858,NM_153617,NM_153619,NM_153616,NM_024966,AC018900,AC044787,CH471082,CS000930,AB040912,AF389426,AF389427,GM708668,GM708670,GM708672,GM708674,GM708676,GM708678 NP_001185928,AAM69451,AAM69452,AAM69453,BAB13869,BAB14221,BAB14264,BAF82721,AAI50254,Q8NFY4,Q9H9G5,Q9H9K4,Q9HAH9,NP_705871,NP_065909,NP_705870,NP_705872,NP_705869,NP_079242,EAW77332,EAW77333,CAI48006,BAA96003,AAM69449,AAM69450,CAT82582,CAT82584,CAT82585,CAT82587,CAT82590,CAT82592 Hs.511265 FLJ11598|KIAA1479 semaphorin-6D protein-coding 1313074 SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene. 1580863 17474147,9721204,19318806,18987670,18422858,17671519,17485510,17377534,17207242,16372136,16344560,16199891,15907379,15489334,14702039,12477932,12193228,10520995,10416131,10201933,9712866,10885563,12879062,20727575 8482 NM_003612,NG_011733,NM_001146029,NM_001146030,AC012435,AC090826,AF030697,AY885237,CH471136,AF030698,AF069493,AF071542,AK001895,AK293280,AK312257,AM180445,AM180446,AM180447,AM180448,AM180449,AM180450,AM180451,BC101643,BC101647,DA136330,DC408557 NP_003603,NP_001139501,NP_001139502,AAC34741,AAW62253,EAW99340,AAC34261,AAC82642,AAC80456,BAG50988,BAG56808,BAG35189,CAJ55398,CAJ55399,CAJ55400,CAJ55401,CAJ55402,CAJ55403,CAJ55404,AAI01644,AAI01648,O75326 Hs.24640 CD108|CDw108|H-SEMA-K1|H-Sema-L|JMH|MGC126692|MGC126696|SEMAK1|SEMAL JMH blood group antigen|John Milton Hagen blood group H-Sema K1|john-Milton-Hargen human blood group Ag|sema K1|sema L|sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)|sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, 7A|sema domain, immunoglobulin domain (ig), and gpi membrane anchor, (semaphorin) 7a|semaphorin K1|semaphorin L|semaphorin-7A|semaphorin-K1|semaphorin-L protein-coding 1349203 SEMG1 semenogelin I The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. The prostate-specific antigen (PSA) protease processes this protein into smaller peptides, with each possibly having a separate function. The proteolysis process breaks down the gel matrix and allows the spermatozoa to move more freely. [provided by RefSeq] 1580863 2912989,1517240,19089943,18714013,18482984,18468680,18314226,17683036,17680810,17624925,16713569,16582407,16344560,15962837,15930278,15590901,15563730,15489334,14629036,14613901,14581514,14562960,12771235,12477932,12399526,12200457,11870067,11784334,11780052,11027412,10412373,10411640,9523691,9092810,8833737,8665951,8654389,8444163,6698208,6484484,6422553,3972122,3889920,2757795,19241194,19889947 6406 AY256468,AY256469,CH471077,M81650,Z47556,AA687874,BC005229,BC007096,BC011442,BC055416,BT007177,DA874748,J04440,AL049767,AY174423,AY174424,AY174437,AY174446,AY174447,AY174448,AY256465,AY256466,AY256467,NM_003007 AAP82464,AAP82465,AAP82466,EAW75871,EAW75872,AAA18168,CAA87636,AAH05229,AAH07096,AAH55416,AAP35841,AAB59506,P04279,Q6Y806,Q6Y808,NP_002998,CAB53523,AAO20112,AAO20113,AAO20126,AAO20127,AAO20128,AAO20129,AAP82462,AAP82463 Hs.1968,Hs.720959 CT103|FLJ78262|MGC14719|SEMG|SGI|dJ172H20.2 cancer/testis antigen 103|semen coagulating protein|semenogelin-1 protein-coding 1345967 SEMG2 semenogelin II The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq] 1580863 1517240,19089943,18714013,18482984,17683036,15563730,15531881,14629036,14581514,12477932,12399526,12200457,11784334,11780052,11027412,10411640,9523691,9128720,8833737,8665956,8665951,8654389,2757795,1584792 6407 NM_003008,AL049767,AY259284,AY259285,AY259286,CH471077,M81651,Z47556,AK312932,BC005262,BC056675,BC070306,M81652 NP_002999,CAB53522,AAP86625,AAP86626,AAP86627,EAW75870,AAA60313,CAA87637,BAG35775,AAH05262,AAH70306,AAA60562,Q02383,Q6IRW3 Hs.537218 SGII Semenogelin 2|semenogelin-2 protein-coding 1349692 SEN2 senescence (cellular)-related 2 2300822 6409 1345498 SEN3 senescence (cellular)-related 3 1576706 6410 1347900 SEN6 senescence (cellular)-related 6 8706800 6411 1343700 SEN6A senescence (cellular)-related 6A 8570202 6412 1345722 SEN6B senescence (cellular)-related 6B 7520270 6413 1321080 SENP1 SUMO1/sentrin specific peptidase 1 The covalent modification of proteins by the small ubiquitin (UBB; MIM 191339)-like protein SUMO (see SUMO1, MIM 601912) is implicated in the regulation of nucleocytoplasmic transport, genomic stability, gene transcription, and other processes. Sumoylation is catalyzed on target lysine residues by a multienzyme process and is reversed by desumoylating enzymes such as SENP1 (Yamaguchi et al., 2005 [PubMed 15923632]).[supplied by OMIM] 1580863 10652325,18616636,18474224,18219322,17704192,17099698,16925949,16712526,16553580,16253240,15923632,15917269,15820677,15701643,15489334,15487983,15199155,14563852,12477932,12466471,15546615,19622798,1087798,18029348,19116244,20079608,20337593,16699503 29843 NM_014554,AC004801,CH471111,AF149770,AK292060,AK312874,AL582855,BC045639,BI560893,BX537920,BX640784 NP_055369,EAW57971,EAW57972,AAF31171,BAF84749,AAH45639,CAD97903,CAE45874,Q6N001,Q7Z3G1,Q9P0U3 Hs.728340 SuPr-2 SUMO1/sentrin specific protease 1|sentrin-specific protease 1|sentrin/SUMO-specific protease SENP1 protein-coding 1351152 SENP2 SUMO1/sentrin/SMT3 specific peptidase 2 SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM] 1580863 18029348,11896061,12192048,17099700,16738331,15489334,15296745,14702039,12477932,12419228,12168954,11997515,11489887,10718198,16169070,15896780,20337593,20098747,19394292 59343 NM_021627,AC016961,AC133473,CH471052,AF151697,AK027599,AK074357,AK296744,AK296772,AK298628,AK304402,AL834380,BC018020,BC040609 NP_067640,EAW78214,EAW78215,EAW78216,EAW78217,AAG15309,BAB55222,BAG59328,BAG59351,BAG60804,BAG65236,CAD39043,AAH40609,Q9HC62 Hs.401388 AXAM2|DKFZp762A2316|KIAA1331|SMT3IP2 SMT3-specific isopeptidase 2|SUMO1/sentrin/SMT3 specific protease 2|sentrin-specific protease 2|sentrin/SUMO-specific protease SENP2|sumo1/sentrin/smt3 specific protease 2 protein-coding 1323815 SENP3 SUMO1/sentrin/SMT3 specific peptidase 3 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM] 1580863 19015314,18946085,18639523,18259216,17081983,16738315,16608850,16565220,16381901,15743823,15635413,15632193,15489336,15489334,15231748,14702039,12477932,11256614,11230166,11076863,11029585,10806345,15960975,19423540,19680224,19773279,20181954,20337593,20406964,20438785,19913121,20628086 26168 NM_015670,AC016876,CH471108,AF199459,AK000923,AL050283,AL557688,AL834294,AY008763,BC048306,BC080658,BF514106,CR598185,CR616029,CR626749 NP_056485,EAW90170,EAW90171,EAW90172,AAL25652,CAB43384,CAD38967,AAG33252,AAH48306,AAH80658,Q9H4L4,CAL37577,CAL37586 Hs.513926 DKFZp586K0919|DKFZp762A152|SMT3IP1|SSP3 SUMO-1-specific protease 3|SUMO1/sentrin/SMT3 specific protease 3|sentrin-specific protease 3|sentrin/SUMO-specific protease 3|sentrin/SUMO-specific protease SENP3|sumo1/sentrin/smt3 specific protease 3 protein-coding 1312139 SENP5 SUMO1/sentrin specific peptidase 5 737633,1580863 19015314,18949399,16738315,16608850,15489334,12477932,10806345 737633 205564 AC011322,AC016949,AC127904,CH471191,AF335474,AK124389,AK302305,AK313764,AL049229,BC000958,BC008589,BC013799,BC030705,NM_152699,BC036626,CR597398,DC399261 NP_689912,EAW53625,EAW53626,EAW53627,EAW53628,EAW53629,AAK69630,BAG63644,BAG36502,AAH08589,AAH30705,Q96HI0,ABM81775,ABM84929 Hs.240770 DKFZp564O1016|FLJ42398|MGC27076 OTTHUMP00000208186|SUMO1/sentrin specific protease 5|sentrin-specific protease 5|sentrin/SUMO-specific protease SENP5|sumo1/sentrin specific protease 5 protein-coding 1312076 SENP6 SUMO1/sentrin specific peptidase 6 Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM] 1580863 20212317,18799455,17081983,17000875,16912044,15489334,15302935,14702039,14574404,12477932,12354770,11278381,10806345,10799485,9872452,18029348,14563852 26054 AI732829,AF307849,AJ710192,AK001406,AK021417,AK021949,AK096455,AK126921,BC028583,CR990444,NM_015571,NM_001100409,AL109897,AL355797,AL356057,AL589656,CH471051,AA768785,AB018340,AF196304,AF306508 AAG29831,BAG50906,BAG51032,BAG51063,BAC04794,BAG54398,AAH28583,Q9GZR1,NP_056386,NP_001093879,CAI19523,CAI23575,CAI23576,CAH74168,CAH74170,CAH72480,CAH72481,EAW48733,EAW48734,EAW48735,EAW48736,BAA34517,AAF04852,AAG30253 Hs.485784 FLJ11355|FLJ11887|KIAA0389|KIAA0797|SSP1|SUSP1 2810017C20Rik|OTTHUMP00000220703|SUMO-1-specific protease 1|SUMO1/sentrin specific protease 6|sentrin-specific protease 6|sentrin/SUMO-specific protease SENP6 protein-coding 1313579 SENP7 SUMO1/sentrin specific peptidase 7 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM] 1580863 11256614,18799455,17081983,16381901,15489336,12477932,11230166,11214970,11076863,10652325 57337 NM_001077203,NM_020654,AC068764,AC073861,AC110994,CH471052,AB051494,AF199458,AF217504,AK297356,AL136599,AL833577,BC039900,BC062674,BC129988,BX537943 NP_001070671,NP_065705,EAW79796,EAW79797,EAW79798,EAW79799,EAW79800,EAW79801,EAW79802,BAB21798,AAL25651,AAG09703,BAG59804,CAB66534,AAI29989,CAD97911,Q9BQF6,CAL37498,CAL37839,CAL37848,CAL38318 Hs.529551 KIAA1707|MGC157730 OTTHUMP00000195147|OTTHUMP00000195150|SUMO-1-specific protease 2|SUMO1/sentrin specific protease 7|sentrin-specific protease 7|sentrin/SUMO-specific protease SENP7|sumo1/sentrin specific protease 7 protein-coding 1320576 SENP8 SUMO/sentrin specific peptidase family member 8 NEDD8 (MIM 603171) is a ubiquitin-like protein that becomes conjugated to the cullin (see CUL1; MIM 603134) subunit of several ubiquitin ligases. This conjugation, called neddylation, is required for optimal ubiquitin ligase activity. NEDD8-specific deneddylases, such as NEDP1, or DEN1, are required to process the NEDD8 propeptide at a C-terminal diglycine motif and to remove NEDD8 from cullins (Gan-Erdene et al., 2003 [PubMed 12759363]).[supplied by OMIM] 1580863 15146197,15342556,16344560,17591783,18666185,19328766,19784069,15567417,15775960,15489334,15242646,14702039,12759363,12759362,12730221,12477932 123228 BP370384,CN367895,DB033241,DB048641,NM_001166340,NM_001172109,NM_001172110,NM_001172111,NM_145204,AC020779,CH471082,CS300645,AF308450,AK097557,AK292298,AY008293,BC031411,CR595304,CR611849 NP_001159812,NP_001165580,NP_001165581,NP_001165582,NP_660205,EAW77881,CAK32309,AAL06294,BAF84987,AAG21828,AAH31411,Q96LD8,ABM81728,ABM84883 Hs.513002 DEN1|HsT17512|NEDP1|PRSC2 NEDD8 specific-protease cysteine 2|NEDD8-specific protease 1|SUMO sentrin specific protease family member 8|deneddylase 1|deneddylase-1|protease, cysteine 2|sentrin-specific protease 8 protein-coding 736154 SEP15 15 kDa selenoprotein This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies in mouse suggest that this selenoprotein may have redox function and may be involved in the quality control of protein folding. This gene is localized on chromosome 1p31, a genetic locus commonly mutated or deleted in human cancers. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 9535873,11278576,18676680,18239845,16710414,15489334,15107826,12665801,12600282,12477932,11898406,11230166,10945981,9373149,8125298,15198809,19170196,19625176,19692168,20378690,20424130,20852007,21048031,21052528 9403 NM_203341,NM_004261,AF267982,AF288992,AL121989,CH471097,AF051894,AF288991,AK225252,AK225640,AL833575,BC005294,BC016359,BC021697,BQ429619,BU941543,CB066894,CR597332,CR600103,CR606020,CR622826,CR623772 NP_976086,NP_004252,AAF78966,AAG31557,CAC04186,EAW73176,EAW73177,EAW73178,EAW73179,EAW73180,AAC15478,AAG31556,CAJ18323,AAH05294,AAH16359,AAH21697,O60613 Hs.362728 15 kDa selenoprotein|OTTHUMP00000010190|selenoprotein protein-coding 1322506 SEPHS1 selenophosphate synthetase 1 This protein encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq] 1580863 7665581,16786570,16262699,16189514,16169070,15534230,15489334,12477932,16385451,20471958 22929 CT000832,NM_001195602,NM_001195604,NM_012247,AL138764,AL355870,CH471072,AK125066,AK297129,AK301568,AK309829,AL557595,AL579174,BC000941,BC063816,BC064610,CR590975,CR598779,CR604492,CR610247,CR616353,CR626255,U34044,CR600942,GU954545,GU954546,GU954547,GU954548,GU954549,HH961864 NP_001182531,NP_001182533,NP_036379,CAI12907,CAI12908,CAI14195,CAI14196,CAI14197,CAI14198,EAW86289,EAW86290,EAW86291,EAW86292,EAW86293,BAG59633,BAG63062,AAH00941,AAH63816,AAA87567,P49903,Q5T5U6,Q5T5U7,Q5T5U9,ABM85063,ADF78120,ADF78121,ADF78122,ADF78123,ADF78124,CBX51405 Hs.124027 MGC4980|SELD|SPS|SPS1 OTTHUMP00000019140|selenide, water dikinase 1|selenium donor protein 1|selenophosphate synthase 1|selenophosphate synthetase 1 +E9|selenophosphate synthetase 1 +E9a|selenophosphate synthetase 1 delta E2|selenophosphate synthetase 1 delta E8|selenophosphate synthetase 1 major protein-coding 1318823 SEPHS2 selenophosphate synthetase 2 This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. This protein itself contains a selenocysteine residue in its predicted active site. The 3' UTR of the gene has a stem-loop secondary structure called a selenocysteine insertion sequence (SECIS) element, which allows UGA to direct the incorporation of selenocysteine rather than signal a translational stop. Alternatively spliced transcripts have been identified, but their biological validity has not been determined. [provided by RefSeq] 1580863 8986768,15534230,15489334,14702039,12477932,10608886,7588067 22928 NM_012248,AC116348,CH471192,AK092003,AK093889,AK303275,BC002381,BC016643,CR606335,U43286 NP_036380,EAW52246,BAC03787,BAC04245,BAG64355,AAH02381,AAH16643,AAC50958,Q8N9T3,Q8NAW0,Q99611 Hs.118725 SPS2 OTTHUMP00000045871|selenide, water dikinase 2|selenide,water dikinase 2|selenium donor protein 2|selenophosphate synthase 2 protein-coding 1603617 SEPN1 selenoprotein N, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 17474147,19557870,19067361,18713863,16779558,16710414,16498447,16365872,15961312,15792869,15668457,15489334,15122708,12700173,12477932,12192640,11528383,9585610,8833144,21048031,18841251,10608886 57190 NM_020451,NM_206926,NG_009930,AJ306398,AL020996,AA613025,AF166125,AJ306399,AK172860,AK308457,AL110205,BC005881,BC015638,BC021028,BC033244,BC042154,BC107036,BQ217758 NP_065184,NP_996809,CAC83790,AAF21430,CAC83791,AAH15638,AAH42154,Q9NZV5,AAI56072 Hs.323396 FLJ24021|MDRS1|RSMD1|RSS|SELN OTTHUMP00000008507|selenoprotein N protein-coding 737591 SEPP1 selenoprotein P, plasma, 1 This gene encodes a selenoprotein containing multiple selenocysteine (Sec) residues, which are encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is an extracellular glycoprotein, and is unusual in that it contains 10 Sec residues per polypeptide. It is a heparin-binding protein that appears to be associated with endothelial cells, and has been implicated to function as an antioxidant in the extracellular space. Several transcript variants, encoding either the same or different isoform, have been found for this gene. [provided by RefSeq] 1580863 8421687,2037562,14718574,19215687,19074884,18977241,18676680,18483336,17986007,17961124,17937618,17601350,17536041,17511039,16344560,16335952,15489334,14702039,12477932,12423375,12173025,11442337,11280803,11278668,10782998,10775431,9918658,9915822,9735174,9373149,8884283,8142465,8125298,7931697,20542496,20029029,20565998,20875901,17245539,19170196,19453253,19625176,19692168,19747622,19779296,20178852,20237496,20378690,20521393,20360971,20800603,20852007,21052528 6414 NM_005410,NM_001085486,NM_001093726,AC008945,CH471119,DQ022288,AK094640,AK096125,AK225801,AK311392,AL833145,AU136519,BC005244,BC015875,BC030009,BC046152,BC058919,BI463468,CR607105,CR607609,Z11793,BC040075 NP_005401,NP_001078955,NP_001087195,EAW56026,EAW56027,EAW56028,EAW56029,EAW56030,EAW56031,EAW56032,AAY26400,AAH15875,AAH40075,AAH46152,AAH58919,CAA77836,P49908 Hs.275775,Hs.726328 SELP|SeP OTTHUMP00000221367|OTTHUMP00000221368|OTTHUMP00000221369|OTTHUMP00000221370|selenoprotein P protein-coding 1606287 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 20920667,11230739,17194211,17142313,16344560,16230358,12477932,11826415,10931155,10801173,20623998,15146197,19608919,19683415,20471133 51091 NM_016955,AC007073,AC104662,CH471069,AF146396,AF282065,AJ238617,AJ277541,AK292476,AW515989,BC012188,BC023539,BC117202,BC126213,BX648976,CR607988,DA155173,AL133065,CN429794 NP_058651,EAW92831,EAW92832,EAW92833,EAW92834,EAW92835,AAD33963,AAG00491,CAB62209,CAB89517,BAF85165,AAH23539,AAI17203,AAI26214,Q9HD40,ACE87496,ACE86809 Hs.253305 DKFZp434B1417|LP|MGC161491|SLA|SLA/LP O-phosphoseryl-tRNA(Sec) selenium transferase|OTTHUMP00000218475|SLA-p35|SLA/LP autoantigen|UGA suppressor tRNA-associated protein|liver-pancreas antigen|sec synthase|selenocysteine synthase|selenocysteinyl-tRNA(Sec) synthase|sep-tRNA:Sec-tRNA synthase|soluble liver antigen|soluble liver antigen/liver pancreas antigen|tRNA(Ser/Sec)-associated antigenic protein protein-coding 1316277 SEPT1 septin 1 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. This gene encodes a protein associated with the tau-based paired helical filament core, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. [provided by RefSeq] 1580863 17912427,16189514,16179162,15489334,12747765,12477932,9811347,8590280,2174398,12475938,15915442,17967425,19799413,20136629,20236126,21082023 1731 NM_052838,AC116348,AC127457,AF308288,CH471192,AF085235,AK301045,AK303390,AL833004,AY034176,BC012161,BQ072902,CR594519,CR603276,CR604490,CR606716,CR610165,CR615337,CR622773,CR590264 NP_443070,AAG48256,EAW52252,EAW52253,AAL40393,BAG62658,BAG64446,CAH56484,AAK61491,AAH12161,Q8WYJ6 Hs.632176 DIFF6|LARP|MGC20394|PNUTL3|SEP1 differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)|peanut-like protein 3|septin-1|serologically defined breast cancer antigen NY-BR-24 protein-coding 1606447 SEPT10 septin 10 This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 17207965,12477932,17657217,15815621,15489334,14702039,12711328 151011 NM_144710,AC011753,AC140485,CH471182,AB208875,AF146760,AF316880,AK021681,AK022682,AK092033,AK292038,AK294427,AK295560,NM_178584,AL049934,AL353938,BC020502,BC050345 ADQ32727,BAH12107,NP_848699,NP_653311,AAY24142,EAW53858,EAW53859,EAW53860,EAW53861,EAW53862,EAW53863,EAW53864,BAD92112,AAF67469,BAB13873,BAB14176,BAG52471,BAF84727,BAH11763,CAB43213,CAB89249,AAH20502,AAH50345,Q59H84,Q9H9P7,Q9NSH2,Q9P0V9,Q9Y3S8 Hs.469615 FLJ11619 OTTHUMP00000207016|OTTHUMP00000207017|OTTHUMP00000207018|sept1-like|septin-10 protein-coding 1349067 SEPT11 septin 11 SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM] 1580863 15485874,18443421,18029348,19234302,17625225,17546647,15635413,15489334,15196925,15140406,14999297,14702039,12665801,12477932,12107410,11790298,16767699,17353931,20379614,20419844,20736409 55752 NM_018243,AC104687,AC111196,CH471057,AI580485,AI741944,AK001711,AK027279,AK027633,AK124592,AK302700,AL110300,BC008083,BC063615,BC064934,BQ021538,BQ221260,CA394082,CR592186,CR612694,CR625731,GU727629 NP_060713,AAY40922,EAX05803,EAX05804,EAX05805,BAA91853,BAB55014,BAB55250,BAH13782,CAB53741,AAH08083,AAH63615,Q96KC0,Q9NVA2,ADU87631 Hs.128199 OTTHUMP00000219161|OTTHUMP00000219162|OTTHUMP00000219163|OTTHUMP00000219164|septin-11 protein-coding 1604543 SEPT12 septin 12 Septins, such as SEPT12, are conserved GTP-binding proteins that function as dynamic, regulatable scaffolds for the recruitment of other proteins. They are involved in membrane dynamics, vesicle trafficking, apoptosis, and cytoskeleton remodeling, as well as infection, neurodegeneration, and neoplasia (Hall et al., 2005 [PubMed 15915442]).[supplied by OMIM] 18443421,18047794,19359518,15915442,14611653,12477932,17207965 124404 NM_144605,NM_001154458,AC020663,CH471112,AI554914,AK058139,AK098718,BC024017,BC035619,DQ456996,DQ517531,EF620906 NP_001147930,EAW85264,EAW85265,BAB71681,AAH24017,AAH35619,ABE68946,ABF61438,ABR10901,Q8IYM1,NP_653206,ADQ32285 Hs.126780 FLJ25410 septin-12 protein-coding 2298733 SEPT13 septin 13 Septins, such as SEPT13, are conserved GTP-binding proteins that function as dynamic, regulatable scaffolds for the recruitment of other proteins. They are involved in membrane dynamics, vesicle trafficking, apoptosis, and cytoskeleton remodeling, as well as infection, neurodegeneration, and neoplasia (Hall et al., 2005 [PubMed 15915442]).[supplied by OMIM] 16344560,15915442,14702039,12690205,12477932,9847074 641977 NR_024271,AC091439,AC096582,CH236960,AK056032,AL832059,BC092503,DA100871 Hs.668485 DKFZp313J1114|FLJ14186|FLJ31470|SEPT13|SEPT7B pseudo 1602813 SEPT14 septin 14 SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM] 17922164,16344560 346288 NM_207366,AC092647,CH471140,AI337138,AK126048,AK301928,AL041480,DB087561,DB341209,DC400351 NP_997249,EAX07958,EAX07959,BAC86412,BAG63348,Q6ZU15,AAI46358,AAI53167 Hs.453629 FLJ44060 septin-14 protein-coding 1342947 SEPT2 septin 2 17024187,19170196,19625176,19692168,20471030,10321247,17685441,10942595,18029348,19234302,19165576,18676680,18656699,18209106,17803907,17637674,17081983,16914550,16807684,16682951,16565220,16189514,15987492,15774761,15635413,15592455,15489334,15485874,15150837,14531065,12544826,12477932,12446710,12388755,12125979,9847074,9811347,9655500,9203580,8697812,8590280,18305167,17353931,12695511 4735 NM_001008491,NM_006155,NM_001008492,NM_004404,AC005104,AC104841,CH471063,AF038404,AK294563,BC014455,BC033559,BC040676,BC043180,BG721140,BI561073,BX648000,CR589975,CR593579,CR608761,CR620550,CR625560,CR626414,D28540,D63878 NP_001008491,NP_006146,NP_001008492,NP_004395,AAY14718,EAW71258,EAW71259,EAW71260,EAW71261,AAB92377,BAG57759,AAH14455,AAH33559,BAA05893,BAA09928,Q15019,ABM83173,ABM86373 Hs.335057 DIFF6|KIAA0158|NEDD5|Pnutl3|hNedd5 NEDD-5|OTTHUMP00000200248|OTTHUMP00000200249|neural precursor cell expressed developmentally down-regulated protein 5|neural precursor cell expressed, developmentally down-regulated 5|septin-2 protein-coding 736597 SEPT3 septin 3 This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18029348,16381901,15489336,15485489,15461802,15200238,15107017,12477932,11322766,11230166,11076863,10591208,8889548,16169070 55964 NM_019106,NM_145733,CH471095,Z99716,AB209152,AF285107,AF285108,AF285109,AI341333,AK290037,AK299919,AL833942,BC111779,BM666855,BX465056,CR456572,CR604795,CR611488,CR616689,CR618252 NP_061979,NP_663786,EAW60478,EAW60479,EAW60480,EAW60481,EAW60482,CAI41693,CAQ07552,CAQ07553,CAQ07554,BAD92389,AAG00517,AAG00518,AAG00519,BAF82726,BAH13172,CAD38797,AAI11780,CAG30458,Q9UH03,CAL37625,CAK54602,CAK54901 Hs.120483 MGC133218|SEP3|bK250D10.3 OTTHUMP00000199652|neuronal-specific septin 3|neuronal-specific septin-3 protein-coding 1349607 SEPT4 septin 4 This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. The protein encoded by this gene is thought to be part of a complex involved in cytokinesis. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 15254396,16344560,9889007,17685441,19221096,19165527,18951507,18617022,17764158,17644312,17546647,17383018,17296554,17105210,16464805,16376484,15837787,15489334,15214843,15122323,15116257,15029247,14702039,14559152,12695511,12544826,12477932,12032658,11511094,11167005,11146656,10340703,20877624 5414 DA076433,DA343015,DC361494,NM_001198713,NR_037155,NR_037156,NM_080415,NM_080416,NM_004574,AC005666,CH471109,AB002110,AB008753,AF035811,AF073312,AF176379,AK091065,AK094579,AK126631,AK294094,AK295527,AK301914,AK302146,AK308957,AK314528,AK315045,AK315396,BC018055,BC018056,BC128255,BC128515,BC142968,CR457111,CR597931,CR603899,CR604379,D89278,U88829,U88870 NP_001185642,ABM83262,ABM86467,Q96Q97,NP_536340,NP_536341,NP_004565,EAW94440,EAW94441,EAW94442,EAW94443,EAW94444,EAW94445,EAW94446,EAW94447,EAW94448,EAW94449,EAW94450,EAW94451,EAW94452,EAW94453,BAB70694,BAB70695,AAB88512,AAC25673,AAG45673,BAG52275,BAG52891,BAG57432,BAG58440,BAG63338,BAG63517,BAG37122,BAG37789,AAH18056,CAG33392,BAB46922,AAD00653,AAD00657,O43236 Hs.287518 ARTS|BRADEION|CE5B3|H5|MART|PNUTL2|SEP4|hCDCREL-2|hucep-7 CE5B3 beta|apoptosis-related protein in the TGF-beta signaling pathway|bradeion beta|brain protein H5|cell division control-related protein 2|cerebral protein 7|peanut-like 2|peanut-like protein 2|septin-4|septin-M protein-coding 1350777 SEPT5 septin 5 This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Two transcripts of this gene, a major one of 2.2 kb and a minor one of 3.5 kb, have been observed. The 2.2 kb form results from the utilization of a non-consensus polyA signal (AACAAT). In the absence of polyadenylation from this imperfect site, the consensus polyA signal of the downstream neighboring gene (GP1BB; platelet glycoprotein Ib) is used, resulting in the 3.5 kb transcript. An alternatively spliced transcript variant with a different 5' end has also been identified, but its full-length nature has not been completely determined. [provided by RefSeq] 10321247,9611266,18398426,17625225,16179808,16169070,15489334,15461802,15345747,15231747,15214843,15116257,14702039,14530399,12909369,12477932,12023038,11880646,11078524,9760144,9655500,9600980,9022087,14559152,9385360,16767699,18845538,11771754,18385322,16714300 5413 NM_002688,AC000093,AF006988,CH471176,AF061154,AK056273,AK295940,BC025261,CR456545,CR597468,CR598470,CR601109,CR603626,CR605683,CR608991,CR609437,CR610263,CR619352,CR621875,U74628,U85431,Y11593,CR608884,BI601927,BQ448147,NM_001009939 NP_002679,AAC39779,AAC39780,EAX03030,AAC25958,BAB71133,BAG58724,AAH25261,CAG30431,AAB93438,AAD00564,CAA72332,O95648,Q96MY5,Q99648,Q99719,CAK54576,CAK54875,EAX03032,NP_001009939 Hs.283743 CDCREL|CDCREL-1|CDCREL1|H5|HCDCREL-1|PNUTL1 OTTHUMP00000197273|OTTHUMP00000197275|OTTHUMP00000197276|OTTHUMP00000197396|OTTHUMP00000197410|cell division control related protein 1|cell division control-related protein 1|peanut-like 1|peanut-like protein 1|platelet glycoprotein Ib beta chain|septin-5 protein-coding 1316585 SEPT6 septin 6 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq] 634004,1580863 11809673,18047794,18029348,17803907,17637674,17229681,16914550,16843108,16189514,15772651,15489334,14531065,12665801,12544826,12477932,12446710,12388755,12096348,11064363,10744683,8590280,11584266,17207965 634004 23157 NM_145802,NM_145800,NM_015129,NM_145799,NG_012565,AC004913,AC005052,AL355348,CH471161,AF397023,AF403058,AF403059,AF403060,AF403061,AF403062,AK026589,AK290977,AK298487,AK299273,AK303116,AK303224,AL833677,AY005981,AY034177,AY679521,BC009291,BC011922,BC036240,BC069231,CR607912,CR610105,CR614657,D50918,DC336432 NP_665801,NP_665799,NP_055944,NP_665798,CAI41425,CAI41426,CAI41427,CAI41428,EAW89851,EAW89852,EAW89853,EAW89854,EAW89855,EAW89856,EAW89857,EAW89858,AAN76547,AAK98547,AAK98548,AAK98549,AAK98550,AAK98551,BAF83666,BAG60696,BAG61293,BAG64222,BAG64311,AAF97496,AAK61492,AAT80339,AAH09291,AAH11922,AAH36240,AAH69231,BAA09477,Q14141,Q6B514,Q6NT82,Q8NFH9,Q8NFI0,Q8NFI2,ADQ32407 Hs.496666 KIAA0128|MGC16619|MGC20339|RP5-876A24.2|SEP2|SEPT2 OTTHUMP00000023917|septin 2|septin-6 protein-coding 1604654 SEPT7 septin 7 This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. Although the exact function of this gene has not yet been determined, its high similarity to yeast CDC10 and the high conservative nature of eukaryotic cell cycle machinery suggest a similar role to that of its yeast counterpart. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 8037772,11584266,15485874,17685441,18543212,18460473,17803907,17637674,17081983,16914550,16344560,15635413,15592455,15489334,15342556,14531065,12477932,12388755,10931866,9655500,9373149,8125298,17353931,20385374,19426592,19916744,20379614,18029348,20035367,20352323 989 NM_001788,AC007551,AC087072,CH236951,CH471073,AA853468,AB073389,AB209677,AK223225,AK223241,AK290545,AK297883,AK298453,AK300601,AL050392,NM_001011553,BC022442,BC025987,BC067264,BC093640,BC093642,BC107718,BI669760,BP280069,BQ229116,BQ232357,BX435313,BX571755,CR591983,CR593525,CR598145,CR609589,CR623918,CR625618,DA352853,DQ232879,S72008 NP_001011553,NP_001779,EAW94059,EAW94060,EAW94061,EAW94062,BAE45719,BAD92914,BAF83234,BAG60206,BAG60668,BAG62298,CAI46224,AAH25987,AAH67264,AAH93640,AAH93642,AAI07719,CAE11880,ABB17294,AAB31337,Q16181,Q309B3,Q3B7A3,Q3LIE9,Q59EY4,Q5JXL7,Q8TC62,ADR82997 Hs.191346 CDC10|CDC3|Nbla02942|SEPT7A CDC10 (cell division cycle 10, S. cerevisiae, homolog)|CDC10 cell division cycle 10 homolog|CDC10 protein homolog|OTTHUMP00000207203|OTTHUMP00000207204|septin-7 protein-coding 2902550 SEPT7P3 septin 7 pseudogene 3 12690205 646913 AC087072,CH236951,NG_008036 EAL23974 pseudo 3516300 SEPT7P4 septin 7 pseudogene 4 100418715 AC006455,NG_022539 pseudo 3516299 SEPT7P5 septin 7 pseudogene 5 100418718 AC006457,NG_022560 pseudo 3516298 SEPT7P6 septin 7 pseudogene 6 100418720 AC104692,NG_022577 pseudo 3003949 SEPT7P7 septin 7 pseudogene 7 100130564 AL353782,NG_021463 FLJ36928 pseudo 3516296 SEPT7P8 septin 7 pseudogene 8 100418735 AC008753,NG_021752 pseudo 1318222 SEPT8 septin 8 SEPT8 is a member of the highly conserved septin family. Septins are 40- to 60-kD GTPases that assemble as filamentous scaffolds. They are involved in the organization of submembranous structures, in neuronal polarity, and in vesicle trafficking (Blaser et al., 2003 [PubMed 12909369]).[supplied by OMIM] 1580863 9039502,8889548,20379614,20485362,17685441,17625225,17353931,16767699,16344560,15489334,15214843,15116257,12909369,12477932,12475938,12098780,12023038,10704283,9149945,20544379 23176 NM_001098813,NM_015146,NM_001098812,AC004775,CH471062,AF179995,AF440761,AF440762,AF440763,NM_001098811,AK057797,BC001329,BC140759,BC171779,BU739074,CR590471,CR617026,D86957,DA261871 NP_001092281,NP_001092283,NP_055961,NP_001092282,EAW62315,EAW62316,EAW62317,AAG09407,AAO13878,AAO13879,AAO13880,AAH01329,AAI40760,AAI71779,BAA13193,Q92599,AAI60179 Hs.522057 KIAA0202|SEP2 OTTHUMP00000066076|OTTHUMP00000066080|OTTHUMP00000211755|septin-8 protein-coding 1349459 SEPT9 septin 9 This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described. 1599349 10339604,15485874,16007136,19451530,19406918,19251694,19204161,19139049,19071215,19018278,18642054,18525421,18492087,18075300,17546647,17081983,16964243,16424018,16344560,16186812,16161048,15782116,15489334,15302935,14702039,12626509,12477932,12388755,12095151,11593400,10987277,10673329,10673328,10485469,10231032,9439655,16169070,17922164,19851296,20019224,20029986,20113838,20198315,20098747,20407014,20562859,20966902,20682395,20140221,19939853 1599349 10801 NM_001113491,NM_001113492,NM_006640,NM_001113493,NM_001113494,NM_001113496,NM_001113495,NG_011683,AC068594,AC111170,AC111182,CH471099,AA523782,AB023208,AF123052,AF142408,AF142569,AF189712,AF189713,AJ312319,AJ312320,AJ312321,AJ312322,AJ312323,AK022493,AK056495,AK290368,AK299828,AK300268,AK300270,AK303449,AK304143,AK316473,AL080131,BC018877,BC021192,BC054004,BC064642,BC114550,BQ279153,BT007215,CR596235,CR597569,CR604409,CR610977,CR614659,CR626353,DA234895,DB007851,DB148645,DC307336 NP_001106963,NP_001106964,NP_006631,NP_001106965,NP_001106966,NP_001106968,NP_001106967,EAW89461,EAW89462,EAW89463,EAW89464,EAW89465,EAW89466,EAW89467,EAW89468,BAA76835,AAD39749,AAG27919,AAG27922,AAF23373,AAF23374,CAC42221,CAC42222,CAC42223,CAC42224,CAC42225,BAB14057,BAG51732,BAF83057,BAH13140,BAG62029,BAG62031,BAG64494,BAG65036,BAH14844,CAB45728,AAH21192,AAH54004,AAI14551,AAP35879,Q1WWK5,Q96QF2,Q9HC74,Q9UHD8,ABM92240,ABM84718 Hs.440932 AF17q25|FLJ75490|KIAA0991|MSF|MSF1|NAPB|PNUTL4|SINT1|SeptD1 MLL septin-like fusion protein MSF-A|Ov/Br septin|ovarian/breast septin|septin D1|septin-9 protein-coding 737006 SEPW1 selenoprotein W, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein shows highest expression in skeletal muscle and heart, and may be involved in oxidation-reduction reactions. A retroprocessed pseudogene, SEPW1P, has been identified and mapped to chromosome 1p35-34. [provided by RefSeq] 15823556,15670848,15489334,14702039,12818432,12775843,12477932,11215511,10708517,9256076,7896009,19387567,19690192 6415 CR615311,NM_003009,AC008745,AF247455,CH471126,AF015283,AK026717,AK091604,BC000581,BC032546,BC039597,BC047893,BF032577,BF973456,BU185196,CR597656,CR617899,U67171 NP_003000,AAL00898,EAW57511,EAW57512,EAW57513,AAB69859,AAH00581,AAH32546,AAH39597,AAH47893,AAC51665,P63302 Hs.631549 selW selenoprotein W protein-coding 1344473 SEPW1P selenoprotein W, 1 pseudogene 12818432 23679 NG_002791,AF083062,AL356320 pseudo 1312916 SEPX1 selenoprotein X, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein belongs to the methionine sulfoxide reductase B (MsrB) family, and it is expressed in a variety of adult and fetal tissues. [provided by RefSeq] 1580863 21048031,14699060,18081029,17938273,15489334,12477932,11779133,11157797,11042152,10608886,10567350,8889548 51734 NM_016332,AC005363,AE006640,CH471112,AF161388,AF166124,AF187272,AK026128,BC003127,CF134919,CR590497,CR598886,CR609793,CR614779,CR616027 NP_057416,AAK61300,EAW85600,EAW85601,AAF28948,AAF21429,AAG17033,AAH03127,Q9NZV6 Hs.655346 HSPC270|MGC3344|MSRB1|SELR|SELX methionine sulfoxide reductase|methionine-R-sulfoxide reductase B1|selenoprotein R protein-coding 1349770 SERAC1 serine active site containing 1 16344560,15489334,14702039,14574404,12477932,8889549,20379614 84947 NM_032861,AL135907,AL590703,CH471051,AA128978,AK023656,AK027823,AK125878,BC001705,BC028594,BC048335,BC060795,BX648104,DB046171 NP_116250,CAI42499,CAI42500,CAI42501,CAH70239,CAH70240,EAW47664,BAB55393,AAH01705,AAH28594,Q96JX3 Hs.154706 FLJ14917|FLJ30544 OTTHUMP00000017499|protein SERAC1 protein-coding 1606807 SERBP1 SERPINE1 mRNA binding protein 1 17353931,11001948,12505151,18440126,17698176,17081983,16964243,16963292,16879614,16679534,16303743,15489334,14702039,12477932,12027469,11972486,11230166,10810093,9373149,9110174,8619474,8125298,16169070,17207965 26135 NM_001018069,NM_001018068,NM_015640,AL358512,AL590559,CH471059,NM_001018067,AF131807,AF151813,AK074970,AK095960,AK130606,AK222955,AK223138,AK312256,AL080119,AY032853,BC002488,BC003049,BC008045,BC017449,BC019273,BC020555,BC026916,BC036414,BI464676,BX647139,CR457383,CR590336,CR591521,CR593099,CR594726,CR602102,CR603977,CR604194,CR606774,CR613013,CR615065,CR619466,CR623154,CR623194,CR624521,CR607610 NP_001018077,NP_001018079,NP_001018078,NP_056455,CAH73323,CAH73324,CAH73325,CAH73326,EAX06489,EAX06490,EAX06491,EAX06492,EAX06493,EAX06494,EAX06495,AAD34050,BAC11324,BAD96675,BAD96858,BAG35188,CAB45718,AAK51130,AAH02488,AAH03049,AAH08045,AAH17449,AAH19273,AAH20555,AAH26916,CAH56188,CAG33664,EAX06497,Q5VU21,Q63HR1,Q8NC51,ACE87133,ACE87238,ACE86556,ACE87741,ACE87060,EAX06496,ADQ32172 Hs.725963 CGI-55|CHD3IP|DKFZp564M2423|FLJ90489|HABP4L|PAI-RBP1|PAIRBP1 PAI-1 mRNA binding protein|PAI1 RNA-binding protein 1|SERPINE1 mRNA-binding protein 1|chromodomain helicase DNA binding protein 3 interacting protein|plasminogen activator inhibitor 1 RNA binding protein|plasminogen activator inhibitor 1 RNA-binding protein protein-coding 1603821 SERBP1P SERPINE1 mRNA binding protein 1 pseudogene 389866 NG_005103,AL353587 SERBP1P|SERBP1P1 pseudo 2794052 SERBP1P2 SERPINE1 mRNA binding protein 1 pseudogene 2 12815422,9847074 359996 AC019060,NG_002917 pseudo 1350108 SERF1A small EDRK-rich factor 1A (telomeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq] 1580863 19154529,15489334,12477932,11181995,10486205,9731538,9503025,20723760,17207965 8293 NM_021967,NM_022968,AC139494,AC139834,CH878701,AF073518,AF073519,AF073520,BC021174,BC035932,BC093880,BC093882,BX107837,CR626737,DB444407 NP_068802,NP_075257,EAW50867,AAC63517,AAC63518,AAH21174,AAH35932,AAH93880,AAH93882,O75920,ADQ32011 Hs.726820 4F5|FAM2A|H4F5|SERF1|SERF1B|SMAM1 OTTHUMP00000222105|SMA modifier 1|protein 4F5|small EDRK-rich factor 1|spinal muscular atrophy-related gene H4F5 protein-coding 1353994 SERF1B small EDRK-rich factor 1B (centromeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq] 15489334,12477932,10486205,9731538,12766061,8889548 728492 NM_022978,AC004999,AC139277,BC101970,BC103687,BC104738,BC171749,BC143255,BC143260,BM686659,CD679521,DB454907,NM_001178087 NP_075267,AAI01971,AAI03688,AAI04739,AAI71749,O75920,AAI43256,AAI43261,NP_001171558 Hs.559428 FAM2B|H4F5C|MGC125278|MGC125279|MGC125280|SERF1A OTTHUMP00000221946|SMA modifier 1|h4F5|protein 4F5|small EDRK-rich factor 1 protein-coding 1344606 SERF2 small EDRK-rich factor 2 16916647,16344560,15489334,14702039,12477932,11042152,9731538,9700202,8889548,16169070,16189514,20723760,16713569,15342556 10169 BI260545,DA302996,NM_001199875,NM_001199878,NM_001018108,AC018512,AF073298,AF320073,AK000479,AK094846,AK307547,AL049976,AV713454,BC008214,BC009869,BC015491,BC022326,BC038893,BM970646,CR600456,CR601339,CR610597,CR611140,CR622391,CR626415,DA051124,BP317864,BQ061048,DB060650,NM_001199876,NM_001199877,NR_037672 NP_001186804,NP_001186807,NP_001018118,AAC63516,AAK07636,AAH15491,AAH22326,P84101,ABM82421,ABM85612,NP_001186805,NP_001186806 Hs.424126 4F5REL|FAM2C|FLJ20431|FLJ37527|FLJ38557|H4F5REL|H4F5rel|HsT17089|MGC48826 OTTHUMP00000066299|OTTHUMP00000200122|gastric cancer-related protein VRG107|protein 4F5-related|small EDRK-rich factor 2 protein-coding 1603222 SERGEF secretion regulating guanine nucleotide exchange factor 10571079,12459492,15489334,14980502,12477932,10737800,8889548 26297 NM_012139,AC055860,AC124058,AC124078,CH471064,AF086056,AJ243950,AJ243951,AK294022,BC000707,BC065375,BE075522,BM709308,BU932034,CB051322,CR596582,AK292286 NP_036271,EAW68423,EAW68424,CAB60832,CAB60833,BAF84975,BAG57381,AAH65375,Q9UGK8 Hs.32470 DELGEF|Gnefr deafness locus associated putative guanine nucleotide exchange factor|deafness locus-associated putative guanine nucleotide exchange factor|guanine nucleotide exchange factor-related protein|secretion-regulating guanine nucleotide exchange factor protein-coding 1346851 SERHL serine hydrolase-like 1580863 10591208,16344560,15489334,15461802,14702039,12529303,12477932 94009 NR_027786,AL022316,CH471095,AK094872,AL365513,BC093888,CR626440,DA273263 EAW60507,BAC04444,CAB97209,AAH93888,Q8N1U3,Q9NQF3 Hs.360940 BK126B4.1|BK126B4.2|HS126B42|dJ222E13.1 pseudo 1602055 SERHL2 serine hydrolase-like 2 15489334,15461802,12529303,12477932,11352564,11181995,10591208,20877624 253190 NM_014509,CH471138,Z93241,AK294584,AK295223,AL450314,AL589866,AL590118,AL590120,BC119650,BC119651,BC127635,BC127636,CR456455,CS566152 NP_055324,EAW73255,EAW73256,EAW73257,EAW73258,EAW73259,CAI19834,BAG57775,BAG58216,CAC16804,CAC34477,CAC34871,CAC34873,AAI19651,AAI19652,AAI27636,AAI27637,CAG30341,Q0VDJ0,Q6ICB3,Q9H4I8,CAK54436,CAK54735,CAN37627 Hs.360940 MGC149508|MGC157667|MGC157668|dJ222E13.1 kraken-like|serine hydrolase-like protein 2 protein-coding 1349070 SERINC1 serine incorporator 1 1580863 17207965,18978678,17081983,15489334,14574404,12975309,10931946,10637174,10574462,12477932 57515 NM_020755,AF092436,CH471051,Z99129,AB033079,AF087902,AF164794,AK075339,AL137261,AY358429,BC014412,BC028607,BC033029,CR592244,CR600110,CR603380,CR624341 ADQ32715,NP_065806,AAP97211,EAW48172,EAW48173,CAD92585,BAA86567,AAP97200,AAF80758,CAB70662,AAQ88795,AAH28607,AAH33029,Q9NRX5 Hs.146668 KIAA1253|TDE1L|TDE2|TMS-2 OTTHUMP00000017112|serine incorporator 1|tumor differentially expressed 1 protein-like|tumor differentially expressed 2|tumor differentially expressed protein 1-like|tumor differentially expressed protein 2 protein-coding 1322836 SERINC2 serine incorporator 2 15815621,15489334,14702039,12975309,12949800,12477932,9872452 347735 NM_178865,AC114494,CH471059,AF352325,AK093784,AK127659,AK296118,AK298512,AK308031,AK309409,AK316357,AY094595,AY358560,BC007375,BC017085,BC063006,BC084580,BC126283,BC126285,CR599180,CR605110,CR606889,CR608200,CR608538,CR608912,CR611236,CR613892,CR618465,CR619066,CR620507,CR621050,CR622064,CR626785,BM924335,DC363849,NM_001199037,NM_001199038,NM_001199039,NM_018565 NP_849196,EAX07611,EAX07612,EAX07613,EAX07614,EAX07615,EAX07616,AAK83284,BAG58867,BAH12803,BAH14728,AAM22522,AAQ88924,AAH07375,AAH17085,AAH84580,AAI26284,AAI26286,Q96AI1,Q96IM8,Q96SA4,Q9P1L9,ACT64421,ACT64422,ADR83169,NP_001185966,NP_001185967,NP_001185968,NP_061035 Hs.270655 FKSG84|MGC90340|PRO0899|TDE2|TDE2L OTTHUMP00000003897|serine incorporator 2|tumor differentially expressed 2-like|tumor differentially expressed protein 2|tumor differentially expressed protein 2-like protein-coding 1318130 SERINC3 serine incorporator 3 1580863 17353931,10559794,16547497,15489334,12477932,11780052,9373149,8889548,8125298,7566098 10955 NM_198941,NM_006811,CH471077,Z97053,AA294859,AF112227,AF153979,AK222923,AK295120,AK300618,AK309993,BC006088,BU739133,BX456085,CA950523,CB956722,CR612942,CR614932,CR617136,U49188 NP_945179,NP_006802,EAW75915,EAW75916,CAB09783,CAI19683,AAD22448,AAD34641,BAD96643,BAG58147,BAG62311,AAH06088,AAB48858,Q13530,Q53GK8,Q5H936,ABM84318,ABM87713 Hs.272168,Hs.696043 AIGP1|DIFF33|SBBI99|TDE|TDE1|TMS-1 placental transmembrane protein (mouse testicular tumor differentially expressed)|serine incorporator 3|transmembrane protein SBBI99|tumor differentially expressed 1|tumor differentially expressed protein 1|tumour differentially expressed 1 protein-coding 1606056 SERINC4 serine incorporator 4 16120614,14702039,12477932 619189 NM_001033517,AC018512,CH471082,AK097682,BC136669,BX647438,CR616011,DQ103711 NP_001028689,EAW77244,EAW77245,EAW77246,AAI36670,AAZ80298,A6NH21 Hs.604985 FLJ40363 serine incorporator 4 protein-coding 1604715 SERINC5 serine incorporator 5 17672918,15637075,12688535,12477932,20379614 256987 NM_178276,AC010260,AC012636,CH471084,AF498273,AK297467,BC101280,BC101281,BC101282,BC101283,NM_001174071,NM_001174072,AK026295 NP_840060,EAW95843,EAW95844,EAW95845,AAP06800,BAG59889,AAI01281,AAI01282,AAI01284,Q86VE9,NP_001167542,NP_001167543 Hs.288232 C5orf12|TPO1 OTTHUMP00000222342|OTTHUMP00000222451|OTTHUMP00000222452|OTTHUMP00000222579|serine incorporator 5 protein-coding 1601762 SERP1 stress-associated endoplasmic reticulum protein 1 19913121,20628086,10601334,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,10931946,20516149 27230 AC107426,CH471052,AA890577,AB022427,AF136975,AK054644,AK090933,AK093929,AK098135,AK125413,AL136807,BC108314,BC112364,NM_014445,BC112365,CR533472,CR594259,CR594954,CR596114,CR606798,CR618644,CR618949,DB022941 NP_055260,EAW78833,EAW78834,EAW78835,EAW78836,BAA81895,AAG49436,CAB66741,AAI08315,AAI12365,AAI12366,CAG38503,Q9Y6X1,CAL37667,CAL38137 Hs.518326 MGC117327|MGC133321|MGC133322|RAMP4 OTTHUMP00000216427|ribosome associated membrane protein 4|ribosome-attached membrane protein 4|stress-associated endoplasmic reticulum protein 1 protein-coding 1346471 SERP2 stress-associated endoplasmic reticulum protein family member 2 16189514,15489334,15057823,12477932 387923 NM_001010897,AL138960,CH471075,BC029067,CR611312 NP_001010897,CAI12995,EAX08708,AAH29067,Q8N6R1 Hs.377972 C13orf21|MGC35505|RP11-269C23.1|bA269C23.1 ribosome-associated membrane protein RAMP4-2|stress-associated endoplasmic reticulum protein 2 protein-coding 1349357 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863,1643158,1625796,1626391,1643144,1643147,1643148,1643154,1643155,1624236,1641805,1643168,1601202,1643145,1643149,1643164,2324964,2324960,2324975,2324959,2317811 20463814,17207965,21067581,19902353,20561599,20811639,15853774,12878203,15845869,16192646,59727,14718574,19590686,19515129,19368725,19306859,19292870,19197072,19181511,19180336,19129321,19115690,19073710,19010440,18766166,18725338,18723439,18686007,18609127,18594986,18550704,18534053,18519826,18515255,18504338,18495745,18433707,18353624,18340647,18309698,18294358,18283111,18264947,18258845,18164971,18089349,18060368,18031952,18029348,18028276,17972336,17855650,17727818,17693072,17688648,17660256,17659342,17654345,17650587,17635928,17573378,17261591,17240615,17237579,17204961,17203708,17006922,17003923,16979136,16954950,16900211,16887359,16875754,16859601,16819398,16802007,16759229,16622833,16617455,16608528,16581345,16540089,16531799,16501672,16449194,12009885,11991955,11936950,11862702,11848724,11834734,11785295,11773044,11754061,11744816,11562937,11436564,11427540,11368345,11317942,11295654,11260148,11202478,11199103,11178897,11148177,11131449,11057674,11034936,10933492,10867014,10716194,10708851,10677536,10651487,10612848,9545340,9466920,9459000,9079644,8939743,8756325,8543039,8358043,8076819,7980522,7977369,7566098,7045697,7031661,6983488,6982267,6979715,6976274,6966283,6604220,6387509,6333329,6332197,6322161,6319097,6191979,6153632,6093867,3876243,3873938,3500042,3491072,3490426,3262617,3257351,2985281,2901226,2787118,2786335,2785270,2784123,2696185,2669992,2610933,2606478,2539391,2394452,2390072,2339709,2316526,2309708,2254451,2227940,2035534,1975477,1967187,1905728,1859394,1602151,1429867,1406456,1079736,12621451,8227051,1702714,14687906,19794310,17906067,16449193,8364590,16387939,16385367,16344560,16339299,16335952,16312203,16278826,16263699,16204591,16183649,16179568,16175011,16172282,16137891,16099106,16044402,16029614,16011217,15994391,15927063,15820782,15820772,15775753,15709777,15681822,15674733,15659365,15653097,15612581,15532029,15498560,15489334,15474273,15454649,15342556,15271889,15271689,15266208,15131125,15100318,15084671,15079023,15014966,14968215,14766207,14766206,14760718,14639110,14616761,14551891,14523999,12934194,12933574,12893950,12878320,12860985,12815594,12815101,12796484,12786756,12754519,12689922,12649292,12626422,12612303,12608432,12578879,12528263,12514663,12498804,12492914,12477932,12464660,12464659,12460583,12452840,12372062,12368052,12324297,12244055,12223217,12119297,12114510,12083479,12023832,12023831,20435667,20371432,20477988,12890555,15795238,16321984,18931508,19251783,19251947,19344972,19398551,19417089,19437508,19628210,19657220,19729499,19738092,19747908,19751191,19763368,19789190,19815548,19853488,19944704,19948975,19956452,19961268,20049513,20086110,20109307,20119870,20150872,20170533,20226649,20228200,20298391,20379614,20425789,20521180,7523394,19913121,20558996,20595457,20628086,20634282,20739079,20108056,20667823,20666480,20736409,21060150,16341674 1643158,1625796,1626391,1643144,1643147,1643148,1643154,1643155,1624236,1641805,1643168,1601202,1643145,1643149,1643164,2324964,2324960,2324975,2324959,2317811 5265 J00066,J00067,J02619,K02212,AA317159,AF119873,AK026174,AK315637,BC011991,BC015642,BC070163,BG483969,BM844817,BM923322,BP296710,BP300943,BP301274,BT019455,BX161449,BX247968,BX248002,BX248257,BX477352,CD685665,CR590437,CR591499,CR592138,CR592520,CR592634,CR592812,CR594071,CR594926,CR596052,CR596840,CR597045,CR597876,CR598299,CR598607,CR599435,CR600354,CR601127,CR601468,CR602463,CR602969,CR604514,CR606920,CR611921,CR613171,CR613538,CR618299,CR618885,CR619433,CR621385,CR621386,CR621562,CR623210,CR625038,CR625360,CR626145,DA427262,DA428299,DA433050,DA433058,DA672472,DA675981,DA966896,DQ682455,K01396,M11465,M26123,X01683,X02920,X05826,X05827,X17122,J00064,V00496,NM_001127702,NM_001127701,NM_001002235,NM_001127706,NM_001127707,NM_001002236,NM_001127705,NM_001127703,NM_001127704,NM_000295,NG_008290,AL132708,CH471061,DQ174461,DQ343612,NM_001127700,GU727620 ADQ32725,AAB59370,AAB59371,AAA51547,AAB59495,AAF69627,BAG38005,AAH11991,AAH15642,AAV38262,CAD61914,CAD62306,CAD62334,CAD62585,AAB59369,ABG73380,AAB59375,AAA51546,AAA51545,CAA23755,CAA25838,CAA26677,CAA29267,CAA34982,P01009,Q13747,Q2L9S7,Q3I0J7,Q9P173,NP_001121172,NP_001121174,NP_001121173,NP_001002235,NP_001121178,NP_001121179,NP_001002236,NP_001121177,NP_001121175,NP_001121176,NP_000286,EAW81570,EAW81571,EAW81572,EAW81573,EAW81574,EAW81575,EAW81576,ABA41642,ABC62080,ADU87622 Hs.525557 A1A|A1AT|AAT|MGC23330|MGC9222|PI|PI1|PRO2275|alpha1AT OTTHUMP00000197150|OTTHUMP00000197154|alpha-1 protease inhibitor|alpha-1-antiproteinase|alpha-1-antitrypsin|protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin|serine (or cysteine) proteinase inhibitor, clade A, member 1|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 1|serpin A1 protein-coding 1353693 SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 1580102,1580104,1580863 20427285,10460162,18768472,18710385,17582153,16527896,16335952,16093243,16079143,15489334,15014966,12975309,12477932,10829076,9689066,15461625,19172319,20024489,11049983,19913121,20628086 1580102,1580104 51156 NM_001100607,NM_016186,AL117259,CH471061,AF181467,AI174900,AK314877,AY358597,BC022261,BX248011,CR606434,NG_021202 NP_001094077,NP_057270,EAW81564,EAW81565,EAW81566,AAD53962,BAG37392,AAQ88960,AAH22261,CAD62339,Q9UK55,ABM82923,ABM86113 Hs.118620 PZI|ZPI PZ-dependent protease inhibitor|protein Z-dependent protease inhibitor|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 10|serpin A10 protein-coding 1345910 SERPINA11 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 1302440 15014966,12477932 1302440 256394 NM_001080451,AL132708,BC146962,BX248259 NP_001073920,AAI46963,CAD62587,Q86U17,AAI52931 Hs.145890 antiproteinase-like 2|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 11|serpin A11 protein-coding 1348482 SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 737633,1580863 19913121,20060144,20628086,19356820,19816707,19951565,19952124,20018186,20045145,20095887,20156923,20379614,17207965,15489334,15014966,12477932,19554505,18848328,18800627,18726871,18375437,17991760,16298335,16030142,20975299 737633 145264 NM_173850,AL132708,AL132990,CH471061,AY177692,AY326420,BC040857 ADQ33048,NP_776249,EAW81578,AAO18649,AAP88384,AAH40857,Q8IW75 Hs.99476 OL-64 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 12|serpin A12|vaspin|visceral adipose tissue-derived serine protease inhibitor|visceral adipose-specific SERPIN protein-coding 1352813 SERPINA13 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) 1302440 19240061,16395595,15014966,12975309,12477932,15769666 1302440 388007 NR_015340,AL049839,CH471061,AY358238 EAW81593,AAQ88605,AAI56105,AAI56897 Hs.527795 UNQ6121 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 13 pseudo 1345816 SERPINA2 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 1580863 2842251,17135331,15014966 390502 P20848 XM_372532,XM_940078,AL117259,AL132708,M19684,M19685 XP_372532,XP_945171,AAA51544,P20848 Hs.666160 ARGS|ATR|PIL|psiATR protein-coding 1343168 SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq] 1580109,1580110,1580863 16712791,14668352,12709365,14687906,2404007,12475184,11835318,9880565,14718574,19590686,19525388,19390575,19341158,19247692,19165527,19008959,18991685,18842294,18408372,18401426,18383875,18248459,18078695,18056971,17854420,17690329,17608807,16968986,16892178,16565071,16453284,16424370,16335952,16303762,16278826,16137793,15935385,15907346,15718509,15659365,15653173,15638460,15612581,15546506,15542006,15530656,15489334,15482730,1618300,1351206,1311327,15131125,15159602,8849841,2016749,15014966,14760718,14702039,12782964,12754519,12736093,12685871,12600202,12477932,12324297,12126519,12023832,11992569,11959399,11936240,11916200,11798857,11769703,11735417,11692021,11385264,11317942,11295654,11290389,11289720,11274154,11132933,11099722,11096092,10829039,10759471,10660528,10618372,10512690,10228625,10209959,10048303,9824262,9698370,9635374,9580375,9521649,9428387,9261179,9042371,8836107,8739078,8732755,8718849,8376411,8365378,8267879,8244391,8226889,8216224,8011628,7966721,7924407,7873202,7759598,7588564,7528097,7521171,6762318,6687683,6606438,6556193,6547997,3637050,3492865,3490907,3485824,3260956,3257719,3028924,2945424,2787670,2456771,2435303,2432851,2190106,123121,16099106,19578796,19789190,19907165,19933216,19959196,20117085,20158662,8647626,11161981,17207965,21067581,19913121,20628086,20302328,20378355 1580109,1580110 12 CR607976,CR609815,CR610368,CR611190,CR612671,CR613551,CR614066,CR614583,CR615154,CR615849,CR617878,CR618039,CR618889,CR618899,CR619614,CR619948,CR620316,CR620629,CR620631,CR620654,CR620688,CR622184,CR623490,CR607384,BC003559,BC010530,BC013189,BC034554,BC070265,BG565041,CB111903,CR590750,CR590774,CR591314,CR592388,CR593040,CR593688,CR595639,CR597046,CR600352,CR601472,CR602814,CR605766,CR625124,CR625741,CR626687,J05176,K01500,M18906,CR624780,AL049839,CH471061,CS081989,X00947,X68733,AB209060,AF089747,AK093049,AK096120,AK123091,AY513275,NM_001085,AY513276,NG_012879 AAH03559,AAH10530,AAH13189,AAH34554,AAH70265,AAA51560,AAA51543,AAA51559,P01011,AAT08029,NP_001076,EAW81587,EAW81588,EAW81589,EAW81590,CAI95958,CAA25459,CAA48671,BAD92297,AAD08810,BAG52641,BAG53869,AAT08028,ADQ32760 Hs.534293,Hs.710488 AACT|ACT|GIG24|GIG25|MGC88254 alpha-1-antichymotrypsin|cell growth-inhibiting gene 24/25 protein|growth-inhibiting protein 24|growth-inhibiting protein 25|serine (or cysteine) proteinase inhibitor, clade A, member 3|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 3|serpin A3 protein-coding 1348774 SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 1302507,1580289,1580863 2558505,19913121,20628086,19858207,7474653,8227002,1334488,18029348,17729417,17714861,16335952,15489334,15014966,12810351,12757180,12754519,12734113,12477932,12384424,11341921,11258665,11016932,10991942,10862973,10547191,9889257,9826127,8950506,8853434,8648266,7835886,20509975 1302507,1580289 5267 AL049839,CH471061,L28101,NM_006215,AK309586,AK313196,BC014992,BX248009,BX248760,CR605698,CR622620,L19684 EAW81579,EAW81580,EAW81581,AAC41706,NP_006206,BAG36012,AAH14992,CAD62337,CAD66567,AAA59454,P29622,ABM83126,ABM86321 Hs.719893 KAL|KLST|KST|PI4|kallistatin PI-4|kallikrein inhibitor|kallistatin|peptidase inhibitor 4|protease inhibitor 4 (kallistatin)|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 4|serpin A4 protein-coding 1346137 SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 1580863,1580299 7521127,11120760,15853774,9510955,14718574,18974053,18362344,18193533,18184931,11161981,19765701,20019810,8796266,17450526,17332248,17258797,16335952,15878512,15822942,15489334,15377716,15014966,14760718,14702039,14696115,14518028,12878585,12575940,12477932,11864713,11722589,11686324,11583740,11123896,10805286,10438718,10417615,10391209,10209959,9556620,9473218,9368023,9365930,8732755,8713781,8665956,8589203,8471250,8384496,8381582,8148499,8148485,7525654,7509746,6294098,3027058,2752144,2556811,2551064,2173165,2172989,1714450,1372913,1318261,9016396,16169070,21056543,20409682,19913121,20628086 1580299 5104 AL080185,BC008915,J02639,S58545,U35464,AF361796,AL049839,CH471061,M68516,S69366,AK096131,AK293192,AK298279,AK310869,NM_000624 AAH08915,AAA35688,AAB26244,AAB60386,P05154,ABM84453,ABM87551,CAB45766,NP_000615,AAK27240,EAW81582,EAW81583,EAW81584,EAW81585,EAW81586,AAA02811,AAB30461,BAG53218,BAG56732,BAG60539 Hs.159628 PAI3|PCI|PLANH3|PROCI PAI-3|acrosomal serine protease inhibitor|plasma serine protease inhibitor|plasminogen activator inhibitor 3|plasminogen activator inhibitor III|plasminogen activator inhibitor-3|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5|serpin A5 protein-coding 1353758 SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq] 1580863 19723618,20226861,20379614,20403506,3299377,19336370,19172388,19086053,19011238,18636124,18513745,17547679,17245537,16381901,16335952,16222046,15877287,15554358,15489336,15489334,15014966,14871264,12780753,12554596,12477932,12364459,12154211,11893012,11752456,11502797,11076863,10634411,10474016,10436419,9739422,9383284,9378466,9373149,8539782,8212073,8180202,8125298,7912884,7878688,7734053,7172869,3751467,3386241,3347061,2821037,2612005,2608068,2253941,2240617,1504007,932172,11161981,20716560,19913121,20628086,14760718,20354921 866 NM_001756,NG_011796,AL117259,CH471061,M31662,AK225591,AK290821,AK313760,AV689566,BC017462,BC036818,BC056259,BC058021,J02943 NP_001747,EAW81567,EAW81568,BAF83510,BAG36499,AAH56259,AAH58021,AAB59523,P08185,CAL37483,CAL37486,CAL38045,CAL38218 Hs.532635 CBG corticosteroid binding globulin|corticosteroid-binding globulin|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 6|serpin A6|transcortin protein-coding 1351148 SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 2312329,2312330,2312332,1600137,1600139,1580863 3094014,14718574,7499319,17887925,16335952,15772651,15489334,12871948,12477932,11931635,11916615,11889160,11600582,11147833,11061524,9768672,9510125,8530630,8268226,7951486,7557975,2501669,2495303,2155256,2115061,1943753,1906892,1906047,1903654,1901689,1515456,1294376,414747,20429632,8232304,19415532 2312329,2312330,2312332,1600137,1600139 6906 NM_000354,CH471120,L13470,X64171,Z83850,BC020747,M14091,AK310778,BJ996322,NG_021252,T78892 NP_000345,EAX02745,EAX02746,EAX02747,EAX02748,AAA16067,CAA45509,CAB06092,AAH20747,AAA60616,P05543,ABM82913,ABM86103 Hs.76838 FLJ17820|TBG OTTHUMP00000023779|T4-binding globulin|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 7|serpin A7|thyroxin-binding globulin|thyroxine-binding globulin protein-coding 1312435 SERPINA9 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 11069088,18550480,17975119,17898315,17447896,15014966,12975309,12819018,12477932,15489334,18799872,19023099 327657 NM_175739,NM_001042518,AL132708,CH471061,AK301082,AY185496,AY185497,AY220118,AY220119,AY220120,AY220121,AY358700,BC089422,BC111498 NP_783866,NP_001035983,EAW81577,BAG62686,AAO32345,AAO32346,AAO65242,AAO65243,AAO65244,AAO65245,AAQ89063,AAI11499,Q86WD7 Hs.317970 GCET1|MGC131906|SERPINA11|SERPINA11b centerin|germinal center B cell-expressed transcript 1|germinal center B-cell-expressed transcript 1 protein|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9|serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 9|serine proteinase inhibitor A11|serpin A9 protein-coding 1314687 SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 1580863 1376927,15952740,15489334,14574404,12665801,12477932,12189154,12114510,11747453,10924364,9858835,9630619,9373149,8530031,8125298,7654387,7578269,1286667,20485444,20424473 1992 NM_030666,AF053630,AL139092,CH471087,AK223370,AK291327,AK298044,AK304641,AK309765,AK312973,BC009015,BT006928,CR595001,CR596453,CR600548,CR610002,CR610741,CR626605,M93056 NP_109591,AAC31394,CAH73667,EAW55089,EAW55090,BAD97090,BAF84016,BAG60342,BAG65420,AAH09015,AAP35574,P30740 Hs.381167 EI|ELANH2|LEI|M/NEI|MNEI|PI2 PI-2|anti-elastase|leukocyte elastase inhibitor|monocyte/neutrophil elastase inhibitor|peptidase inhibitor 2|protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1|serpin B1 protein-coding 733342 SERPINB10 serpin peptidase inhibitor, clade B (ovalbumin), member 10 1580863 7592909,16172807,15489334,12477932,10871600,10196205,9268635,2690952,20433722 5273 NM_005024,AC009802,AC072051,CH471096,AK314936,BC096217,BC096218,BC096219,BC096220,U35459 NP_005015,EAW63162,BAG37442,AAH96217,AAH96218,AAH96219,AAH96220,AAC50282,P48595,Q4VAX6 Hs.158339 PI10|bomapin PI-10|peptidase inhibitor 10|protease inhibitor 10 (ovalbumin type, bomapin)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10|serpin B10 protein-coding 1315147 SERPINB11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) 1580863 17567994,17562709,15489334,12477932,17207965 89778 BC069596,BC130370,BC130372,DC383104,AC069356,CH471096,AF419953,AF419954,AF419955,AK292775,AK296705,AK309537,AK309970,AY739645,AY792323,AY792324,AY792325,AY792326,NM_080475 AAH69596,Q5Q120,Q5Q121,Q5Q122,Q5Q123,Q96P15,NP_536723,EAW63158,AAL16056,AAL16057,AAL16058,BAF85464,BAG59299,AAU81932,AAV73920,AAV73921,AAV73922,AAV73923,ADQ31989 Hs.350958 EPIPIN|MGC163242|MGC163244|SERPIN11 OTTHUMP00000202800|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11|serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 11|serpin B11|serpin peptidase inhibitor, clade B (ovalbumin), member 11 protein-coding 1343942 SERPINB12 serpin peptidase inhibitor, clade B (ovalbumin), member 12 1580863 11604408,12477932 89777 NM_080474,AC090307,CH471096,AF411191,AK309754,BC103884,BC103885 NP_536722,EAW63149,AAL05571,AAI03885,AAI03886,Q3SYB4,Q3SYB5,Q96P63 Hs.348541 MGC119247|MGC119248|YUKOPIN serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12|serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 12|serpin B12 protein-coding 1312230 SERPINB13 serpin peptidase inhibitor, clade B (ovalbumin), member 13 1580863 10512713,9297979,19569240,16433682,16357159,15885077,15489334,12809493,12504904,12477932,11313015,11004515,10527881,19690890 5275 NM_012397,AC090307,AF216854,AJ278717,CH471096,AF169949,AJ001696,AJ001697,AJ001698,AK290323,AK296797,AK298049,AK303867,AK303979,AK313486,AL050177,BC101821,BC143402,DC346089,X98307 NP_036529,AAF72879,CAC03569,EAW63150,EAW63151,EAW63152,EAW63153,AAD55765,CAA04935,CAA04936,CAA04937,BAF83012,BAH12433,BAH12713,BAH14070,BAH14090,BAG36269,AAI01822,AAI43403,CAA66951,Q92661,Q9UIV8 Hs.241407 HSHUR7SEQ|HUR7|MGC126870|PI13|headpin HURPIN|PI-13|UV-B repressed sequence, HUR 7|haCaT UV-repressible serpin|peptidase inhibitor 13|protease inhibitor 13 (hurpin, headpin)|proteinase inhibitor 13|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13|serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 13|serpin B13 protein-coding 1343432 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 1580863 14732874,15346200,19423540,19650060,19690890,19926580,20406964,20438785,18029348,20800603,19074642,18977990,18690354,18632617,18472001,17696882,17657675,17567994,17267840,17141398,16923810,16459332,16344560,16214170,16113755,15887231,15767426,15500643,15489334,14653443,12944478,12883638,12682008,12578825,12477932,12105855,11949838,11929770,10438806,10393034,10391209,10368272,9892694,9846056,9780231,9268635,8388810,8152607,7867722,7506655,3496414,3325828,3257578,3029122,2845977,2799763,2494165,2471561,2303256,2166055,2161846,1286667,7499264,19238444,19117638,19913121,20628086,20628624,20494554 5055 CR616092,J02685,NM_002575,AC072051,CH471096,NM_001143818,M23092,M24657,M31546,M31547,M31548,M31549,M31550,M31551,AK313159,BC012609,CD366374,CR594634,CR599277,CR604199,J03603,M18082,Y00630,A21238,A21254,A32415,CR626822,DA543366,DQ656059 NP_001137290,NP_002566,EAW63160,EAW63161,AAA60005,AAA60348,AAA36797,BAG35977,AAH12609,AAA36413,AAA60004,AAA60006,CAA68666,P05120,Q6LDR6,CAA01535,CAA01539,CAA02099,ABM83793,ABM87115 Hs.594481 HsT1201|PAI|PAI-2|PAI2|PLANH2 monocyte Arg-serpin|placental plasminogen activator inhibitor|plasminogen activator inhibitor 2|plasminogen activator inhibitor, type II (arginine-serpin)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2|serpin B2|urokinase inhibitor protein-coding 1342655 SERPINB2L1 SERPINB2-like 1 5056 1351967 SERPINB2L2 SERPINB2-like 2 5057 1346118 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 1580863 9373149,8125298,2840187,2208001,1958219,17353931,7724531,19112206,19070595,18657489,18385761,18155162,18078639,17523076,16701102,16681421,16344560,15906357,15902720,15733534,15677460,15489334,15001834,14993646,14970861,14719077,14654899,12975381,12949073,12874860,12820321,12773976,12477932,11267667,10956412,10653592,9548757,20212457,20428762,20586028,19332150,19423540,19959474,20089382,20406964,20438785 6317 NM_006919,AB034984,AC069356,CH471096,U19562,U19568,AB046399,AF428135,AF428136,AF428137,AF428138,AF428139,AF461146,AJ515706,AK222746,AK222753,AK308383,AK310948,AK314805,AY190327,AY245778,AY245781,BC005224,BC008483,BT006748,DB229922,EU852041,S66896,U19556 NP_008850,BAB21524,EAW63156,EAW63157,AAA86316,AAA86317,BAB40772,AAQ04218,AAQ04219,AAQ04220,AAQ04221,AAQ04222,AAQ04770,CAD56658,BAD96466,BAD96473,BAG37332,AAO11731,AAO92269,AAO92272,AAH05224,AAP35394,ACF21012,AAB20405,AAA97552,P29508,Q5K634,Q5K684,Q9BYH9,ABM92177,ABM84648 Hs.227948 HsT1196|SCC|SCCA-1|SCCA-PD|SCCA1|T4-A protein T4-A|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3|serpin B3|squamous cell carcinoma antigen 1 protein-coding 1351173 SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4 1580863 17353931,7589435,9931463,18097581,17016656,16820864,16549498,16344560,16211231,15677460,15489334,14970861,14630915,12702576,12477932,12437110,11267667,10956412,10852705,10653592,9828132,8889548,7724531,20428762,19070595,19339807,19615732,19956912,19959474 6318 NM_002974,AB005548,AB035089,AC069356,CH471096,U19576,AB046400,AF461147,AK292212,AY245780,AY245782,BC008399,BC017401,BU676816,DB118691,U19557,X89015 NP_002965,BAA75462,BAB21525,EAW63154,EAW63155,AAA92602,BAB40773,AAQ04771,BAF84901,AAO92271,AAO92273,AAH17401,AAA97553,CAA61420,O95740,P48594,Q5K633,Q86W03,Q86W05,Q9BYF7,ABM83720,ABM87040 Hs.123035 LEUPIN|PI11|SCCA-2|SCCA1|SCCA2 OTTHUMP00000066808|OTTHUMP00000066810|PI-11|SCCA2/SCCA1 fusion protein|peptidase inhibitor 11|protease inhibitor (leucine-serpin)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4|serpin B4|squamous cell carcinoma antigen 1|squamous cell carcinoma antigen 2 protein-coding 69089 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 1580863 20132554,19222699,19462894,19473451,19728335,19906413,19966016,20092039,20099971,20211623,20334895,20346150,20105109,20336301,20517662,8290962,19309490,19221500,19148518,19147537,19090015,19073519,18931702,18698492,18665036,18597952,18367129,18343598,18247378,18236066,18234645,18091326,18091325,18042077,17490717,17458898,17446556,17301947,17203770,17203179,17189399,16936308,16892558,16720730,16633061,16614520,16604823,16540429,16491398,16329135,16304843,16227634,16203989,16049007,16049006,16007219,15907209,15760906,15731774,15713631,15688005,15620951,15608662,15578720,15501821,15492782,15353310,15309707,15256060,15197584,15145521,15009909,14991928,14761935,14743202,14732229,14716296,14670180,14578190,14534696,14532972,12969792,12964023,12799381,12789271,12786889,12753703,12644823,12629351,12533266,12477932,12425757,12384513,12366809,12231537,12220518,12127964,12037665,11969337,11788595,11751384,10828881,9433491,9389773,7797587,7724531,20337574,20697987,20075396,20363977,20459532,19909580,16982778,18060631,21048031 5268 NM_002639,AC036176,CH471096,AK301667,AK312765,AL602439,BC020713,BM955647,BX640597,CV575332,U04313 NP_002630,EAW63145,EAW63146,EAW63147,EAW63148,BAG63141,BAG35631,AAH20713,CAE45703,AAA18957,P36952 Hs.55279 PI5|maspin PI-5|peptidase inhibitor 5|protease inhibitor 5 (maspin)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5|serine (or cysteine) proteinase inhibitor, clade b, member 5|serpin B5 protein-coding 1348161 SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 1302731,1580863 8415716,18029348,19425502,17761692,16175637,15489334,14702039,14670919,12477932,12107413,11745444,10463585,9858835,9851866,8662739,8636153,8486644,8408007,8136380,7601482,7548163,20451170,16341674 1302731 5269 NM_004568,AL133351,CH471087,AB209563,AF116727,AK027149,AK057138,AK094983,AK098566,AK122895,AK122961,AK128637,AK314578,BC001394,BC098564,BI259189,BI827451,BM789272,BX538343,CD674931,Z22658,BG499326,NM_001195291,NG_027692 NP_004559,CAI23291,CAI23292,EAW55097,EAW55098,EAW55099,EAW55100,EAW55101,EAW55102,EAW55103,EAW55104,EAW55105,EAW55106,BAD92800,AAO15303,BAG37155,AAH01394,AAH98564,CAD98106,CAA80373,P35237,Q8IXH2,ABM86293,ABW03799,NP_001182220 Hs.519523 CAP|DFNB91|DKFZp686I04222|MGC111370|MSTP057|PI6|PTI|SPI3 OTTHUMP00000017779|PI-6|cytoplasmic antiproteinase|deafness, autosomal recessive 91|peptidase inhibitor 6|placental thrombin inhibitor|protease inhibitor 6 (placental thrombin inhibitor)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6|serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 6|serpin B6 protein-coding 736732 SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 1580863 9710452,18793525,18498720,18471408,16796905,16550745,16431886,15788472,15489334,15342556,15213261,12477932,12397041,12386281,11527413,9182567,18580857,20628624 8710 NM_001040147,NM_003784,AC069356,AC072051,CH471096,AF027866,AK290673,AK290876,AK300828,BC069417,BC069442,BC069547,BC106743,BC106744,BC117512,BP332064,BX641156,CD701612,D88575 NP_001035237,NP_003775,EAW63159,AAC64506,BAF83362,BAF83565,BAG62480,AAH69417,AAH69442,AAH69547,AAI06744,AAI06745,CAE46069,BAA31232,O75635,Q6MZG5 Hs.138202 DKFZp686D06190|MEGSIN|MGC120014|MGC120015 OTTHUMP00000180650|TP55|mesangium predominant gene, megsin|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7|serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 7|serpin B7 protein-coding 1320387 SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 1580863 8530382,19188865,19023099,17975119,17567994,16493485,12477932,12417609,9442015,9417904,9402754,9268635,8761950,15231068,17207965,20379614,2690952,20953187 5271 NM_198833,NM_002640,NM_001031848,AC009802,CH471096,AK300391,AK313782,AL708543,BC034528,BE566411,BG611734,BQ435307,BX280409,BX571754,CA445967,DQ656055,L40377,U92984 NP_942130,NP_002631,NP_001027018,EAW63163,EAW63164,EAW63165,BAG62124,BAG36520,AAH34528,CAE11879,AAC41939,P50452,Q8N178,ACE87370,ACE86686,ADQ31588 Hs.368077 CAP2|PI8 OTTHUMP00000067002|OTTHUMP00000180653|PI-8|cytoplasmic antiproteinase 2|peptidase inhibitor 8|protease inhibitor 8 (ovalbumin type)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8|serpin B8 protein-coding 1318666 SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 PI9 belongs to the large superfamily of serine proteinase inhibitors (serpins), which bind to and inactivate serine proteinases. These interactions are involved in many cellular processes, including coagulation, fibrinolysis, complement fixation, matrix remodeling, and apoptosis (Sprecher et al., 1995 [PubMed 8530382]).[supplied by OMIM] 1580863 15146197,12517944,12477932,12036886,11856484,11719590,11485349,11207275,10790428,11463822,15739160,17237823,19956856,8910377,16130169,18669594,18191723,17479112,17077322,16310039,16306080,16267761,16169070,16144945,15531453,15494398,15489334,15458434,10681578,10477277,9858835,8530382 5272 NM_004155,AL133351,CH471087,AB060690,AK314842,BC002538,BT006673,BX640606,CN255302,CR407627,CR613727,CR616287,L40378,U71364 NP_004146,CAI23290,EAW55093,EAW55094,EAW55095,BAB91078,BAG37360,AAH02538,AAP35319,CAE45712,CAG28555,AAC41940,AAC50793,P50453,Q6N0A8,ABM81700,ABM84860 Hs.104879 CAP-3|CAP3|PI9 PI-9|cytoplasmic antiproteinase 3|peptidase inhibitor 9|protease inhibitor 9 (ovalbumin type)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9|serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 9|serpin B9|serpin peptidase inhibitor, clade B, member 9 protein-coding 1351541 SERPINBP1 serpin peptidase inhibitor, clade B (ovalbumin) pseudogene 1 10644448,19773279 11029 NG_002645,AL031963 PI8L1|SERPINB11|SERPINBP1 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), pseudogene 1 pseudo 1316583 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq] 1580118,1580119,1580122,2312416,1599331,1599321,1599323,1599326,1599332,1599333,1599337,1599327,1599330,1580863 15853774,12878203,12907439,14718574,19277409,19229049,19004141,18954896,18923394,18761717,18550704,18208532,7959685,7878627,7832187,7749926,7656006,7599134,7238875,6833231,6693405,6672771,6636045,6582486,6572945,6305982,6298709,6096369,3979120,3805013,3800906,3605071,3472589,3360140,3191114,3179438,3169232,3162733,3080419,3055413,2998880,2991253,2917133,2794060,2781509,2615648,18056677,17849067,17597998,17492649,17413759,17244682,16973611,16940049,16908819,16796563,16705712,16542481,16335952,16263699,15978566,15733967,15630491,15630490,15338392,15164384,15140129,15084671,14760718,14652650,14532267,14347873,12894857,12695507,12595305,12556442,12477932,12466122,12369826,12353073,12193972,12138164,11927130,11861278,11854268,11794707,11754060,11713457,11686319,11686316,10997988,10974350,10809774,10361121,9845533,9761669,9759613,9428387,9405673,9157604,9067613,9031473,8889549,8664906,8486379,8476848,8443391,8274732,8236149,8087553,7994035,7989582,7981186,1808766,1602151,1555650,1551681,1547341,1483709,1421387,1325679,1315572,2602168,2544589,2365065,2229057,2126464,2093312,2013320,2012760,1998601,1977621,1932746,1906811,1873224,1873223,1868237,1695900,17474147,19423540,19631608,19715676,19760264,19762145,19843180,19861246,19924026,20024502,20406964,20438785,20452482,20088933,20224507,19913121,20628086,20673868,20683322,21044781 1580118,1580119,1580122,2312416,1599331,1599321,1599323,1599326,1599332,1599333,1599337,1599327,1599330 462 AB083701,AB083703,AB083704,AB083707,AF386078,AL136170,CH471067,CQ975467,L00190,M21642,M21643,M21644,M21645,U11270,X00237,X00238,X03203,X03204,X68793,AF130100,AK312654,BC022309,CR619869,D29832,H62671,H65301,H71210,R84868,NM_000488,NG_012462,HH713706 NP_000479,BAC21173,BAC21174,BAC21175,BAC21176,AAK60337,CAI19423,EAW90969,EAW90970,EAW90971,CAI45858,AAB40025,AAA51796,AAA51793,AAA51794,AAA51795,AAA19930,CAA25059,CAA25060,CAA26951,CAA26952,CAA48690,AAG35525,BAG35537,AAH22309,BAA06212,P01008,Q7KYQ5,Q7KYY4,Q8IZZ8,Q8IZZ9,Q8J000,Q8J001,Q8TCE1,Q9UBW9,Q9UE54,CBX54631 Hs.75599 AT3|ATIII|MGC22579 antithrombin III|antithrombin-III|serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1|serine (or cysteine) proteinase inhibitor, clade c (antithrombin), member 1|serine-cysteine proteinase inhibitor clade C member 1|serpin C1 protein-coding 732320 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. The gene contains five exons and four introns. This protein shares homology with antithrombin III and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq] 1580300,1580301,1580303,1580304,1580863 3907702,3782093,3755044,3379101,3003690,2894851,2841345,2760054,2647747,2552799,2318847,2104620,1985958,1939083,1836773,1671335,20671370,14718574,18971786,18383370,16981704,16339402,16335952,15543340,15461802,15342556,15337701,15292227,15247982,12477932,12361205,12169660,12152684,12095635,11856753,11846800,11323006,10391209,9373149,8562924,8125298,7545318,19913121,20628086,19747479,20053992 1580300,1580301,1580303,1580304 3053 NM_000185,NG_012076,AC007308,CH471176,M33660,M58600,AK225292,AK314200,BC035028,BP237845,CR456573,CR593482,M12849,X03498 NP_000176,EAX02941,EAX02942,AAA36185,AAA52641,BAG36878,AAH35028,CAG30459,AAA52642,CAA27218,P05546,Q8IVC0,CAK54603,CAK54902,ABM82129,ABM85312 Hs.474270 D22S673|HC2|HCF2|HCII|HLS2|LS2 OTTHUMP00000198451|heparin cofactor 2|leuserpin 2|leuserpin-2|protease inhibitor leuserpin-2|serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1|serpin D1 protein-coding 69014 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1580127,1580126,1580190,1580131,1580123,1624959,1580132,1580863,2316117,2316116,4143529,4144832,4143512,4143514,4143527,4143513,4144037,4144039,4144040,4143525,4144840,4144842,4144861,4144828,4144830,4144831,4144856,4144867,4144850,4144833,4144837,4144846,4144041,4144827,4144836,4144847,4143511,4144038 20127289,20079702,10902815,11827452,1632457,1695900,17032919,17355798,18768333,19015166,19085655,19193026,19290852,19350365,19351570,19370415,19423540,19438580,19439404,19444746,19483400,19487690,19500510,19501581,19513384,19523975,19540572,19553556,19565516,19574558,19578796,19608644,19628210,19628666,19644850,19664386,19682239,19691831,19698976,19699511,19718486,19729601,19752858,19776673,19821806,19824427,19838007,19838435,19844663,19855083,19856137,19857655,19860767,19896127,19906129,19909951,19916862,19923980,19924498,19929406,19933990,19934566,19942375,19948975,19956635,20005426,20006393,20017074,20036902,20051843,20051950,20066125,20074437,20082208,20107738,20118711,20128871,20133900,20134171,20142115,20158910,20161734,20207250,20228065,20302034,20334849,20346360,20351105,20352162,20353610,20371491,20374070,20392162,20392463,20406964,20425806,20429897,20438785,20447686,20452482,20460339,20472470,20508517,20535834,20549826,8508955,8626514,8837777,9386191,20140262,20538960,20663859,20717043,20734064,20822334,20827781,20856803,20926026,20959880,21034162,21037509,21039385,21054877,21070757,21078611,21080081,21082259,15481848,15116265,11776328,17581326,17578681,17559626,17555513,17549383,17549286,17541549,17540775,17523079,17513622,17495595,17473577,17473573,17469143,17467713,17456624,17433639,17408411,17397908,17388801,17379280,17356550,17351368,17328891,17322633,17320454,17309181,17299841,17276980,17269998,17263760,17259369,17258797,17257155,17230042,17221326,17207964,17201588,17201153,17200772,17199731,17187779,17182940,17179821,17172275,12114510,15853774,12808446,16272158,2503541,2544876,9207454,18974388,14718574,19636212,19608328,19604112,19560472,19559392,19536843,19527514,19526059,19521296,19479237,19475533,19443353,19420105,19419975,19419896,19410276,19401121,19395327,19387820,19387177,19368854,19356953,19336886,19282863,19263529,19247692,19238514,19238444,19176991,19167867,19154538,19147537,19136619,19132225,19131662,19127083,19123477,19123042,19117638,19110485,19088796,19082473,19072566,19066200,19063817,19061349,19056482,19052924,19050632,19037965,19033264,19019335,19018779,19016004,19008959,19004141,18983502,18978303,18977990,18974842,18974580,18953568,18936436,18931510,18930220,18922856,18853133,18835034,18832570,18829023,18828272,18820218,18819934,18818748,18818228,18809301,18804848,18803625,18800213,18797412,18796547,18795717,18794724,18728123,18725338,18722101,18720901,18714537,18700166,18685811,18683152,18674955,18665040,18662099,18658131,18646302,18624608,18621614,18619429,18618228,18616803,18615155,18614541,18609532,18600083,18599586,18597060,18580060,18563738,18559377,18524690,18519558,18519237,18513389,18511872,18508114,18503142,18495745,18469003,18468424,18465330,18463321,18459951,18454324,18445685,18436534,18423526,18393255,18386027,18383878,18381294,18376309,18366077,18362590,18358555,18344023,18341631,18337154,18318764,18307986,18296846,18289715,18285546,18284606,18278185,18276785,18263635,18262228,18239151,18234320,18208536,18196271,18182917,18182031,18180317,18174166,18173921,18160602,18160600,18160589,18160588,18160587,18096824,18083357,18078928,18077030,18075282,18064331,18058192,18057060,18045665,18037477,18029284,18024289,18023202,17992643,17986506,17985503,17975760,17972336,17949955,17949795,17949793,17934860,17932317,17922472,17903340,17899094,17895116,17890953,17884148,17882266,17877801,17804466,17786291,17765897,17761618,17723126,17721742,17721610,17719307,17702963,17698217,17697137,17696882,17690487,17689414,17689411,17681507,17676631,17671042,17661167,17657675,17656680,17656673,17649957,17642204,17641264,17616807,17608581,17604327,17601881,17593467,16172282,16160004,16154434,16151016,16148154,17161063,16130596,16123492,16113755,16102886,16102055,16086925,16082623,16061406,16043164,16039281,16037259,16020771,16014034,15994914,15990085,15978119,15952129,15939070,15935835,15935832,15920032,15916851,15915389,15907980,15905170,15886801,15885322,15879922,15869613,15869597,15853833,15843979,15842353,15841306,15837947,15831362,15831288,15827742,15824541,15823189,15820782,15780823,15772559,15718495,15716278,15678273,15677734,15674349,15673060,15659127,15646834,15634264,15630497,15613047,15611593,15588467,15575342,15554360,15528457,15516780,15515049,15494412,15493875,15489334,17160433,17126831,17126795,17126309,17119035,17111197,17107352,17100732,17100549,17080225,17063752,17062678,17044080,17036337,17018527,17006922,17005586,16998253,16963292,16945123,16938111,16931622,16926677,16914534,16902162,16896567,16883539,16879223,16879222,16857194,16855181,16845248,16839401,16828203,16816071,16796899,16789641,16776623,16735791,16730474,16713670,16713569,16706983,16703752,16676078,16635210,16622840,16603315,16601834,16569320,16567932,16546843,16508752,16507937,16502012,16496609,16483878,16472842,16466010,16458133,16456100,16444434,16424345,16423881,16416371,16409470,16409202,16395714,16369102,16365142,16356191,16353042,16331557,16321247,16307159,16279946,16274483,16270643,16237647,16228848,16210568,16202290,16179568,16172807,11748101,11738073,11734664,11592048,11558839,11525425,11522017,11485022,11457467,11457466,11454529,11427204,11418606,11397722,11385207,11384978,11347834,11332466,11289708,11266465,11260416,11168509,11113116,11091191,11037896,10967118,10783396,10739390,10737800,10731421,10543954,10391209,10368279,10209959,9634700,9202242,9194591,9143604,9065424,8830783,8607113,8455210,8344937,7892190,7592875,7552714,7523444,7522053,7521069,7479001,3262512,3132455,3097076,3092219,3090045,3026837,3025016,2891140,2840665,2820474,2612914,2430793,2339362,2161846,2110366,1870265,1731226,1339823,9184208,1435917,19718071,20216986,20614004,20623540,20630999,20204407,20686427,20727996,15372465,15353919,15351855,15333048,15333035,15328163,15321757,15315974,15313160,15309528,15300646,15292349,15243126,15234427,15218974,15217907,15213845,15198928,15194475,15191349,15183748,15175025,15170393,15149846,15146197,15131125,15121769,15120696,15119966,15116245,15109703,15105509,15096570,15090858,15087600,15079805,15067375,15051600,15039136,15009482,15001579,14983227,14983219,14983218,14983217,14977839,14963283,14963043,14769027,14746139,14744782,14742985,14706682,14699709,14675098,14669168,14668616,14656894,14653443,14653439,14652637,14642142,14642005,14631138,14629474,14629464,14623266,14605330,14597935,14597244,14592559,14585904,14581151,14550286,14515194,14515181,14508198,14500731,12960956,12958610,12911596,12902511,12899665,12888867,12876625,12876623,12871600,12867763,12859287,12857431,12856717,12856128,12853948,12833632,12833173,12816904,12811828,12802648,12801613,12783120,12765340,12761670,12748347,12745435,12743121,12734779,12719278,12716314,12709053,12708473,12707042,12701125,12700666,12694181,12694180,12694086,12686544,12684636,12670745,12669121,12660488,12642587,12632020,12615788,12601637,12597520,12589088,12556967,12556966,12524082,12518110,12514663,12508941,12506026,12499900,12490312,12477941,12477932,12468767,12446192,12438962,12437099,12431476,12428096,12406875,12390531,12362314,12362251,12356300,12353306,12353079,12223472,12218297,12187010,12181379,12167592,12141403,12140748,12124797,12123491,12123488,12110504,12107743,12091343,12090757,12086154,12082592,12064834,12063175,12057695,12038776,12032637,12027469,12006921,11981424,11979351,11972486,11934213,11928807,11909993,11908512,11877282,11864708,11858480,11858184,11849662,11836675,11829481,11825444,11816722,11816707,11816701,11809921,11796824,11796716,11780311,20385790,20470281,20222049,20299979,20356416,20500107,20136501,20519507,20079523,19492158,19913121,20428185,20532885,20536507,20558613,20567875,20602615,20628086,20628624,20673868,20706793,20724304,20737565,20740581,20818980,20624254,20669347,20816667,20300183,20818488,20236028 1580127,1580126,1580190,1580131,1580123,1624959,1580132,2316117,2316116,4143529,4144832,4143512,4143514,4143527,4143513,4144037,4144039,4144040,4143525,4144840,4144842,4144861,4144828,4144830,4144831,4144856,4144867,4144850,4144833,4144837,4144846,4144041,4144827,4144836,4144847,4143511,4144038 5054 AI752990,NG_013213,NM_001165413,BF351821,C00767,CN309001,CN309016,CR603052,CR604690,CR605271,CR605789,CR614829,CR622616,CR625802,M14083,M16006,X04429,X04729,X04731,X04744,X12701,NM_000602,AC004876,AF386492,CH471197,J03764,M22313,M22314,M22315,M22316,M22317,M22318,M22319,M22320,M22321,X13338,X13339,X13340,X13341,X13342,X13343,X13344,X13345,AK293248,AK297728,AK298048,AK316225,BC005927,BC010860,BC020765,GN348256,HI555467 NP_001158885,AAA60008,AAA60003,CAA28025,CAA28438,CAA28442,CAA28444,CAA31208,P05121,ABM81620,ABM84803,NP_000593,AAD45828,AAK60338,EAW50195,EAW50196,EAW50197,AAA60007,AAA60009,CAA31722,CAB51639,CAB51737,CAB51606,CAB51607,CAB51738,CAB51739,CAA31729,BAH11475,BAH12656,BAH12712,BAH14596,AAH10860,CAY56481,CBX47312 Hs.414795,Hs.713079 PAI|PAI-1|PAI1|PLANH1 endothelial plasminogen activator inhibitor|plasminogen activator inhibitor 1|serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1|serpin E1 1643388,1643401 BW321_H,BMD1_H protein-coding 70076 SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 1580863,2317927,729767,2317936,2317937 20942929,20805453,1691280,1939253,19439404,19584287,19789190,19855083,19949669,20035713,20233420,20298363,2037625,20525719,3279057,19017876,18617644,18550614,17934860,17703087,17690329,17446335,17379830,16921128,16741952,16358219,16344560,16085935,16015279,15489334,15340161,12859287,12477932,12356769,12106474,11925594,11827452,9373149,8125298,8006028,7729568,7665170,3427015,1334458,9184208,3997857,2877744,19626039,19604412,19249338,19111454,20463177,20623540,21067581 2317927,729767,2317936,2317937 5270 NM_006216,NM_001136528,NM_001136530,AC073641,CH471063,AI754402,AJ293400,AK225823,AK295564,AK297588,AK312499,BC015663,BC042628,BX360097,CR592106,CR592428,CR592548,CR596542,CR604360,CR623305,CR625696,DB325994,DC366668,M17783,A03911,DC304261,BX647459 NP_006207,NP_001130000,NP_001130002,AAY14926,EAW70821,EAW70822,EAW70823,EAW70824,BAG58464,BAG59975,BAG35401,AAH15663,AAH42628,AAA35883,P07093,CAA00310,ABM84117,ABM84610,ABM84611,ABM87515,ABM87861,ABM87862 Hs.38449,Hs.708453 DKFZp686A13110|GDN|PI-7|PI7|PN-1|PN1|PNI OTTHUMP00000203766|glia-derived nexin|glial-derived neurite promoting factor|peptidase inhibitor 7|protease nexin 1|protease nexin I|serine (or cysteine) proteinase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 2|serpin E2 protein-coding 2301110 SERPINE3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 15057823 647174 AM402969,NM_001101320,AL137780,CH471075,AX772926 NP_001094790,EAX08872,CAL47031,CAE06272,A8MV23 Hs.685891 nexin-related serine protease inhibitor|serpin E3 protein-coding 1342519 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 The PEDF gene is a member of the serpin gene family. Serpins are a group of serine protease inhibitors, some of which have also been reported to exhibit neurotrophic activity.[supplied by OMIM] 1580135,2312346,2312337,2312345,2312347,2312353,2312354,2312342,2312349,2312338,2312339,2312340,2312341,2312355,2312356,2312344,2312348,1580863 21067572,16797605,16777976,16740777,16707486,16596284,16409998,16335952,16896539,16322471,16289162,16196102,16102727,15994443,15856012,15846509,15713745,15489334,15377265,15374885,15239109,15150108,15140209,15096582,14991838,12920663,12878936,12860293,12837042,12827055,12711260,12687338,12670505,12621583,12603315,12599204,12477932,12237317,12200129,11438800,10531367,10398730,10398599,9692954,9238088,8977492,8889548,8434014,8188257,7592790,7566098,8473338,11562499,8226833,12737624,19637042,19513563,19503741,19342598,19253105,19247457,19224861,19223990,19182495,19180572,19091957,18845835,18805795,18792873,18787502,18787046,18715664,18677713,18676622,18523656,18455830,18312852,18226801,18191271,18180304,18084848,18029348,17870167,17658465,17651710,17604022,17593873,17525281,17479108,17213275,17202143,17188371,17081065,19913121,20628086,20678803,20705733,20685859,20229034,20381502,20631025,20664971,18625531,19583952,19608741,19635565,19661223,19948828,20087951,20104255,20132989,20141354,20228934,20412062,20504225 1580135,2312346,2312337,2312345,2312347,2312353,2312354,2312342,2312349,2312338,2312339,2312340,2312341,2312355,2312356,2312344,2312348 5176 AC130343,AC130689,CH471108,U29953,U57450,AA351026,AA658568,AF400442,AK315344,AY513280,BC000522,BC013984,BM981180,BQ773314,BT007222,BU154385,CA405781,CR591530,CR592475,CR592815,CR594081,CR594378,CR596861,CR597983,CR599790,CR599792,CR601477,CR601478,CR602052,CR602559,CR603189,CR603443,CR605639,CR607676,CR608705,CR608766,CR612579,CR616341,CR617675,CR617941,CR620288,CR622036,CR625398,CR626499,M76979,M90439,W22661,NM_002615 NP_002606,EAW90577,AAA84914,AAB38685,AAK92491,AAT08033,AAH00522,AAH13984,AAP35886,AAA60058,AAA93524,P36955 Hs.532768,Hs.721120 EPC-1|PEDF|PIG35 cell proliferation-inducing gene 35 protein|pigment epithelium-derived factor|proliferation-inducing protein 35|serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1|serpin F1 protein-coding 1315455 SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 1580302,1580303,1580304,1625529,1625533,1625534,1625535,1625530,1625532,1625537,1625538,1625531,1625536,1580863 19492163,19913121,20628086,20705733,21075,10570951,15853774,12878203,14687906,7306699,14718574,19073825,18550704,18048863,18029348,17961166,17890952,17883703,17388801,17317851,17203182,16828203,16335952,14751930,12911586,12621583,12549929,12477932,12080056,11604408,11074138,10963790,10958788,10583218,9428387,9368023,9169621,9042371,8889548,8703832,8647939,8624776,8611456,7873202,7095605,6980881,3818581,3416655,3334852,3166140,2958938,2830248,2572590,2456616,2440681,2437112,2434496,2433286,1577485,1385210,158022,134998,19691486,20071328,20112045,8484741 1580302,1580303,1580304,1625529,1625533,1625534,1625535,1625530,1625532,1625537,1625538,1625531,1625536 5345 NM_000934,AC130343,CH471108,M20786,AK303763,BC031592,BX107460,CK300825,CR617307,D00116,D00174,J02654,AL564784,NG_013215,NM_001165920,NM_001165921 NP_000925,EAW90578,EAW90579,EAW90580,EAW90581,AAA51554,BAG64729,AAH31592,BAA00070,BAA00124,AAA35543,P08697,ABM81722,ABM84877,NP_001159392,NP_001159393 Hs.159509 A2AP|AAP|ALPHA-2-PI|API|PLI OTTHUMP00000115656|OTTHUMP00000197008|OTTHUMP00000197009|alpha-2-AP|alpha-2-antiplasmin|alpha-2-plasmin inhibitor|serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2|serine (or cysteine) proteinase inhibitor, clade f (alpha-2 antiplasmin, pigment epithelium derived factor), member 2|serpin F2 protein-coding 1344082 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq] 1302854,1600545,1580863 11527969,2365061,2563376,10946292,3965505,14718574,19344414,19201015,19169411,18842294,18758157,18586324,18535392,18035804,18022239,17976427,17916775,17908769,17709141,17521609,17502473,17498209,17488724,17230419,16617246,16470590,16409206,16335952,15971231,15879149,15607116,15596403,15596402,15583734,15489334,15356570,15325085,15096536,14760718,14635117,14568956,12773530,12754519,12539042,12492481,12477932,12421980,12123444,11933207,11460008,11437612,9882449,9234243,8755917,8529136,8172583,7883978,7814636,7749926,7586269,6980881,6604523,6416294,6282262,3756141,3587308,3488058,3458172,3393514,3295045,3267220,3178731,3089875,2723063,2478116,2323781,2296585,2154751,2118657,2026152,1885769,1684567,1531292,1451784,1363816,1339401,10570951,20606025,20532227,19423540,19607829,19706314,19752569,20016407,20024535,20062564,20120775,20161815,20237496,20306692,20406964,20438785,20351192,20576771,20628624,20736409,20800603 1302854,1600545 710 NM_001032295,NG_009625,AF435921,AP000662,AP002893,AY904027,CH471076,M30688,S76944,X07427,X54486,AB209826,AK293054,AK303809,AK303840,AK312626,AL703442,AY732485,AY732486,BC011171,BQ183346,BT006966,CR590689,CR590941,CR591439,CR594035,CR600380,CR603289,CR604184,CR606235,CR607756,CR608695,CR610016,CR612050,CR612675,CR612737,CR613065,CR614264,CR614379,NM_000062,CR614595,CR615596,CR619147,CR619152,CR620172,CR620983,CR621088,CR621653,CR626630,CR626631,M13203,M13656,M13690,M14036,X07577,GU727623 NP_000053,NP_001027466,AAM21515,AAW69393,EAW73762,EAW73763,EAW73764,AAA53096,AAB33044,CAA30314,CAA38358,BAD93063,BAF85743,BAG64762,BAG64784,BAG35512,AAV33124,AAV33125,AAH11171,AAP35612,AAA51849,AAB59387,AAA35613,AAA51848,CAA30469,P05155,Q5UGI5,Q5UGI6,ABM82725,ABM85908,ADU87625 Hs.384598 C1IN|C1INH|C1NH|HAE1|HAE2 C1 esterase inhibitor|C1-inhibiting factor|OTTHUMP00000197004|complement component 1 inhibitor|plasma protease C1 inhibitor|serine (or cysteine) proteinase inhibitor, clade g (c1 inhibitor), member 1, (angioedema, hereditary)|serine/cysteine proteinase inhibitor clade G member 1|serpin G1|serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) protein-coding 732731 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. Its expression is induced by heat shock. The protein localizes to the endoplasmic reticulum lumen and binds collagen; thus it is thought to be a molecular chaperone involved in the maturation of collagen molecules. Autoantibodies to this protein have been found in patients with rheumatoid arthritis. [provided by RefSeq] 737815,1580863 20701077,11581402,17977830,19341245,19527514,19603022,20043075,20112500,11162551,11106745,11052465,10862616,10506936,10227388,9588174,9533029,9272875,16169070,19067716,16712791,7656593,1309665,10023073,15308636,19019335,18818748,18293509,18205191,18095990,18093617,16938879,16484215,16396496,16326708,16171977,15955241,15806139,15635413,15489334,15389525,15247019,15225209,15047128,14702039,12824005,12659832,12477932,12475206,12174873,12163502,12145293,12061838,11994473,11748222,11572868,18029348,19578754,20881960 737815 871 AK122936,AK130870,AK131503,AK290124,AK297811,AK309905,AY264853,AY744367,BC014623,BC036298,BC070087,BT007094,CB123399,CR590010,CR590021,CR590753,CR591232,CR599889,CR601955,CR606479,CR608913,CR613632,CR613876,CR615584,CR615994,CR620506,CR622404,AK094047,CR622741,CR623052,CR625032,D83174,NG_012052,AB044780,AB044781,AP001922,AP002815,CH471076,AB044778,AB044779,AI926019,AK075504,NM_001235,X61598 BAG53805,BAF82813,BAG60149,AAP93914,AAU95378,AAH14623,AAH36298,AAH70087,AAP35758,NP_001226,BAA96790,BAA96791,EAW74974,EAW74975,EAW74976,EAW74977,EAW74978,EAW74979,BAA96788,BAA96789,BAA11829,CAA43795,P50454,Q9NPA9 Hs.596449 AsTP3|CBP1|CBP2|HSP47|PIG14|PPROM|RA-A47|SERPINH2|gp46 47 kDa heat shock protein|arsenic-transactivated protein 3|cell proliferation-inducing gene 14 protein|collagen-binding protein|colligin|colligin-1|colligin-2|proliferation-inducing gene 14|rheumatoid arthritis antigen A-47|rheumatoid arthritis-related antigen RA-A47|serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)|serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2)|serine (or cysteine) proteinase inhibitor, clade h, member 1|serpin H1 protein-coding 1351755 SERPINHP1 serpin peptidase inhibitor, clade H, pseudogene 1 737815 10023073 737815 158172 NG_006020,AB010273,AL353662 SERPINHP1|bA571F15.6|pshsp47 pseudo 731505 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 1580863 9070919,18029348,19265707,19222708,18591508,18391951,18051703,17961231,17606885,17212813,16849336,16344560,15664988,15489334,15291813,15269833,15090543,14983220,12477932,12354288,12228252,12103288,11880376,10992299,10517635,9407089,19423540,19423713,20406964,20438785,20691191 5274 NM_005025,NM_001122752,NG_008217,AC026353,AC079822,AF248246,CH471052,CS208019,AK290082,BC018043,BQ086144,CR627434,DA270615,DA359846,Z81326,HB867204 NP_005016,NP_001116224,AAG01089,EAW78571,EAW78572,EAW78573,CAJ44935,BAF82771,AAH18043,CAH10520,CAB03626,Q99574,CBF57588 Hs.478153 DKFZp781N13156|PI12|neuroserpin PI-12|neuroserpin|peptidase inhibitor 12|serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1|serine (or cysteine) proteinase inhibitor, clade i (neuroserpin), member 1|serpin I1 protein-coding 737028 SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2 The protein encoded by this gene is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. The gene product may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. Two alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq] 1580863 10097100,16713569,16189514,15489334,12477932,10992299,9624529,9373149,8125298,20453000 5276 NM_006217,AC107311,CH471052,AB006423,AF130470,AK226025,AK293391,BC027859,BX496933 NP_006208,EAW78587,BAA33766,AAD34723,BAG56900,AAH27859,O75830 Hs.445555 MEPI|PANCPIN|PI14|TSA2004 OTTHUMP00000212687|OTTHUMP00000212688|OTTHUMP00000212689|PI-14|myoepithelium-derived serine protease inhibitor|pancreas-specific protein TSA2004|peptidase inhibitor 14|protease inhibitor 14|serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2|serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2|serpin I2 protein-coding 1353244 SERTAD1 SERTA domain containing 1 1580863 15489334,15065884,14675634,12736710,12477932,11331592,10580009,9373149,8125298,20570897,6434876,16713569,16303743,16201750,16189514,16098148,19176394,17141982,20211142,21044367 29950 NM_013376,AC010271,AY130860,CH471126,CQ783536,CS072423,AA928491,AF117959,AF366402,AK074652,AK222970,AK223011,BC002670 NP_037508,AAM77800,EAW56964,EAW56965,CAF86711,CAI93561,AAF08349,AAK52831,BAG51982,BAD96690,BAD96731,AAH02670,Q53GC0,Q9UHV2,ABM83919,ABM87240 Hs.269898 SEI1|TRIP-Br1 CDK4-binding protein p34SEI|CDK4-binding protein p34SEI1|SEI-1|SERTA domain-containing protein 1|transcriptional regulator interacting with the PHD-bromodomain 1 protein-coding 1350169 SERTAD2 SERTA domain containing 2 1580863 16098148,18316374,15815621,15489334,12477932,11331592,8590280,17141982,19152710,20379614 9792 NM_014755,AC007365,CH471053,AK311117,BC074788,BC074789,BC101639,BC101641,BQ017415,D50917 NP_055570,AAY14766,EAW99935,AAH74788,AAH74789,AAI01640,AAI01642,BAA09476,Q14140,ABZ92282 Hs.591569 MGC126688|MGC126690|Sei-2|TRIP-Br2 SERTA domain-containing protein 2|transcriptional regulator interacting with the PHD-bromodomain 2|transcriptional regulator interacting with the PHS-bromodomain 2 protein-coding 1603398 SERTAD3 SERTA domain containing 3 The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq] 16189514,16098148,17260023,15489334,12477932,11331592,10982866,19060904 29946 NM_203344,NM_013368,AC010271,CH471126,CQ783944,AF192529,AK074604,AW242302,BC014061,BC050643,CR601245,CR605181 NP_976219,NP_037500,EAW56966,EAW56967,EAW56968,CAF86937,AAF05761,BAG51975,AAH14061,AAH50643,Q9UJW9 Hs.515412 RBT1 RPA-binding trans-activator|SERTA domain-containing protein 3|replication protein-binding trans-activator protein-coding 1351903 SERTAD4 SERTA domain containing 4 737633 14702039,12477932 737633 56256 NM_019605,AL035414,CH471100,AK096381,AK315386,BC012083,CR605084 NP_062551,CAB81635,EAW93431,EAW93432,EAW93433,BAG37779,AAH12083,Q9NUC0,ABM84559,ABM86456 Hs.600545 DJ667H12.2 SERTA domain-containing protein 4 protein-coding 1316757 SESN1 sestrin 1 1580863 9926927,15105503,14702039,12607115,12477932,7938006,20800603,16751804,18692468,18703169,19704005,21067298,8889548 27244 NM_014454,AL355305,AL390208,CH471051,AF033120,AF033121,AF033122,AJ420599,AK001886,AK290157,AK290551,AL133559,BC112036,BC113569,BI549226,BU740021,NM_001199933,NM_001199934 NP_055269,CAI14558,CAI16718,CAI16719,CAI16720,EAW48367,EAW48368,AAD04810,AAD04811,AAD04812,BAA91961,BAF82846,BAF83240,AAI12037,AAI13570,Q5T317,Q5T318,Q9Y6P5,NP_001186862,NP_001186863 Hs.591336 MGC138241|MGC142129|PA26|RP11-787I22.1|SEST1 OTTHUMP00000016951|p53 activated gene 26|p53 regulated PA26 nuclear protein|p53-regulated protein PA26|sestrin-1 protein-coding 1346813 SESN2 sestrin 2 This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq] 1580863 11256614,15489334,15105503,14702039,12607115,12477932,12203114,11230166,19113821,19377293 83667 AK315710,AL136551,AY123223,AY538253,BC013304,BC033719,BI912024,CR601369,NM_031459,AL353622,CH471059,AK025640,AK027896 BAB55438,BAG38070,AAM92261,AAH13304,AAH33719,P58004,ABM83753,ABM87072,ACE87182,ACE86501,NP_113647,CAI19133,EAX07703,CAB66486 Hs.469543 DKFZp761M0212|DKFZp761M02121|HI95|SES2|SEST2 hypoxia induced gene 95|sestrin-2 protein-coding 1319828 SESN3 sestrin 3 1580863 15489334,14702039,12607115,12477932,20379614,20412774 143686 NM_144665,AP000787,CH471065,AF086251,AF086504,AK096300,BC017296,AK302366 NP_653266,EAW66959,EAW66960,BAC04754,BAH13685,AAH17296,P58005 Hs.659934 MGC29667|SEST3 sestrin-3 protein-coding 1349123 SESTD1 SEC14 and spectrin domains 1 20164195,20379614,19240061,14702039,12837271,12477932 91404 AK056075,BC061918,CR624402,NM_178123,AC016755,AC093911,CH471058,AK057944,AK096232,AL122046,AY209190,BC029744,BC047578,BC053862 NP_835224,AAY24323,AAY24093,EAX11010,BAB71618,BAG53235,CAB59182,AAP47744,AAH29744,AAH47578,AAH53862,Q7Z6D3,Q86VW0,Q9UFF8,ACE87475,ACE86789 Hs.30977 DKFZp434O0515|SOLO SEC14 domain and spectrin repeat-containing protein 1|huntingtin-interacting protein-like protein|protein Solo protein-coding 1316679 SET SET nuclear oncogene 1580863 14759373,14671643,14612398,12628186,12524539,12477932,12444089,12407107,12107410,11978794,11909973,11741927,11231286,11163245,11076863,11073993,11018049,9773788,9373149,9353299,8294483,8192856,8131851,8125298,17353931,15136563,11555662,8626647,7753797,1630450,19234487,19028839,18931446,18591933,18374643,18299449,18096310,17875674,17868381,17620317,17608644,17529993,17360516,17296573,17245428,17081983,17034827,17008916,16916647,16861234,16823850,16381901,16286244,16189514,16061203,15931263,15930275,15642345,15556635,15489336,15489334,15342556,15173575,15164053,15146197,17142970,20800572,19343227,20634891,16712791,16541025,17309103,17643375,18649364,18809386,19166587,19615732,19900756 6418 CH471090,AK223556,AK300609,AK300794,AK311346,AK315313,AY349172,BC014567,BC032749,BP343325,BQ774097,CA392072,CB129868,CN408133,CR536543,CR542050,CR594714,CR595023,CR602404,CR604929,D45198,EF534308,M93651,U51924,X75091,AL359678,NM_001122821,NM_003011,AL356481 Q5VXV2,Q5VXV3,CAL37598,CAL37620,CAL37900,CAL38053,CAL38324,ABM85334,ABW03714,EAW87818,EAW87819,EAW87820,EAW87821,EAW87822,EAW87823,BAD97276,BAG62304,BAG62453,BAG37717,AAQ79833,AAH32749,CAG38780,CAG46847,BAA08139,ABP96841,AAA60318,AAC50460,CAA52982,Q01105,CAH71410,NP_001116293,NP_003002,CAH71408,CAH71409,CAQ52632,CAQ52633 Hs.436687,Hs.596814 2PP2A|I2PP2A|IGAAD|IPP2A2|PHAPII|TAF-I|TAF-IBETA HLA-DR-associated protein II|I-2PP2A|SET translocation (myeloid leukemia-associated)|Template-Activating Factor-I, chromatin remodelling factor|inhibitor of granzyme A-activated DNase|inhibitor-2 of protein phosphatase-2A|phosphatase 2A inhibitor I2PP2A|protein SET|protein phosphatase type 2A inhibitor|template-activating factor I protein-coding 1314725 SETBP1 SET binding protein 1 1580863 20379614,20436468,12168954,11231286,9455477,8889548,14718574,12477932,16582916,21076409,19913121,20628086 26040 NM_001130110,NM_015559,AC015954,AC021766,AC090376,AC105074,AC120049,CH471088,AB007897,AB022660,AK123972,AL832945,BC062338,BC146776,BQ641251,CF143191,NG_027527 NP_001123582,NP_056374,EAX01441,BAA24826,BAA82444,AAH62338,AAI46777,Q6P6C3,Q9Y6X0 Hs.435458 DKFZp666J1210|KIAA0437|SEB SET-binding protein protein-coding 1605414 SETD1A SET domain containing 1A SET1A is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. The complex is the analog of the S. cerevisiae Set1/COMPASS complex (Lee and Skalnik, 2005 [PubMed 16253997]). Also see SET1B (MIM 611055).[supplied by OMIM] 17355966,18680430,19433449,12670868,17500065,18838538,18765639,18082152,17998332,17578910,17081983,16253997,15489334,12477932,9205841,19951360,20819778 9739 NM_014712,AC135048,AB002337,BC027450,BC035795 NP_055527,BAA20797,AAH27450,AAH35795,O15047 Hs.297483 KIAA0339|KMT2F|Set1|Set1A SET domain-containing protein 1A|hSET1A|histone-lysine N-methyltransferase SETD1A|lysine N-methyltransferase 2F|set1/Ash2 histone methyltransferase complex subunit SET1 protein-coding 1602124 SETD1B SET domain containing 1B SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM] 17355966,12477932,10470851,17998332,18838538,18029348,18680430,19433449 23067 NM_015048,AC079360,AC084018,AB028999,AK000810,BC047909,BC080192,CR598662 NP_055863,BAA83028,Q9UPS6 Hs.507122 FLJ20803|KIAA1076|KMT2G|Set1B SET domain-containing protein 1B|hSET1B|histone-lysine N-methyltransferase SETD1B|lysine N-methyltransferase 2G protein-coding 1602894 SETD2 SET domain containing 2 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq] 19367581,19155214,19141475,18585004,17081983,16713569,16344560,16314571,16118227,15489334,15302935,14702039,12477932,11461154,11214970,11042152,10958656,9700202,20944102,19698110,20054297,20501857 29072 AC094020,AC127430,CH471055,AB051519,AF049103,AF049610,AF161554,AI671342,AJ238403,AK026125,AK026837,AK091413,AK095494,AK127782,AK128096,AK131371,AL049470,AL713692,AL831959,AL833394,AY576987,AY576988,NM_014159,BC072440,BC090954,BC117162,BC117164,BF437034,BX649110,CR604129,DA800082 NP_054878,EAW64805,EAW64806,EAW64807,EAW64808,EAW64809,EAW64810,EAW64811,BAB21823,AAC26194,AAC26846,AAF29041,CAC28349,BAB15367,BAC87131,BAD18522,CAD28492,CAD38601,CAH10589,AAT77612,AAT77613,AAH72440,AAH90954,AAI17163,AAI17165,Q9BYW2 Hs.517941 FLJ16420|FLJ22472|FLJ23184|FLJ45883|FLJ46217|HBP231|HIF-1|HSPC069|HYPB|KIAA1732|KMT3A|SET2|p231HBP HIP-1|SET domain-containing protein 2|hSET2|histone-lysine N-methyltransferase SETD2|huntingtin interacting protein 1|huntingtin yeast partner B|huntingtin-interacting protein 1|huntingtin-interacting protein B|lysine N-methyltransferase 3A protein-coding 1319950 SETD3 SET domain containing 3 18029348,16094384,15489334,14702039,12477932,11329013 84193 NM_032233,NM_199123,AL110504,AL132819,CH471061,AK026680,AK302882,AL359581,BC009054,BC037395,BC066931,BC120967,BC120968,BC127624,BC127625,BC142995,BC148251,BG194029,BX161441,BX161471,CB988965,CR598580 NP_115609,NP_954574,EAW81664,EAW81665,EAW81666,EAW81667,BAB15525,BAG64060,CAH56365,AAH09054,AAH66931,AAI20968,AAI20969,AAI27625,AAI27626,AAI42996,AAI48252,CAD61911,CAD61927,Q6NXR6,Q86TU7 Hs.510407 C14orf154|DKFZp761E1415|FLJ23027|MGC87236 SET domain-containing protein 3 protein-coding 1353006 SETD4 SET domain containing 4 15489334,14759258,14702039,12477932,11707072,10830953,9740676 54093 NM_017438,NM_001007259,AP000688,CH471079,AB004848,AB004849,AB004852,AB004853,AF391112,AI636385,AK001660,AK095215,AK124254,AK126368,AK300009,BC002898,BC036556,BF195582 NP_059134,NP_001007260,BAA89424,EAX09756,EAX09757,EAX09758,EAX09759,EAX09760,EAX09761,EAX09762,AAL34503,BAA91819,BAG61826,AAH02898,AAH36556,Q9NVD3,ABZ92338 Hs.606200 C21orf18|C21orf27 OTTHUMP00000108888|OTTHUMP00000108889|OTTHUMP00000108890|OTTHUMP00000108892|OTTHUMP00000108894|OTTHUMP00000108897|SET domain-containing protein 4 protein-coding 1605381 SETD5 SET domain containing 5 16641997,15489334,14702039,12477932,11214970,16189514 55209 AC018506,CH471055,AB051544,AK001569,AK024384,AK025478,AK091393,AK092046,AK094975,AK127298,AK289529,AL442073,BC012558,BC020956,BX648380,NM_001080517,CR627408 NP_001073986,EAW63962,BAB21848,BAA91762,BAB14903,BAB15144,BAG52348,BAG54476,BAF82218,CAC09439,AAH20956,CAH10552,CAH10497,Q6AW96,Q9C0A6 Hs.288164 DKFZp686J18276|FLJ10707|KIAA1757 OTTHUMP00000197546|OTTHUMP00000197548|OTTHUMP00000197549|SET domain-containing protein 5 protein-coding 1605343 SETD6 SET domain containing 6 16344560,15489334,15342556,14702039,12477932,19416867 79918 NM_024860,NM_001160305,AC009118,CH471092,AK024801,AK127136,AK290495,AK297288,AK304822,AK309468,BC022451,BC110433,BP338820,CR616142,DA074170,GD152628 NP_079136,NP_001153777,EAW82980,EAW82981,BAB15011,BAC86845,BAF83184,BAG59758,BAG65570,AAH22451,Q6ZSV1,Q8TBK2 Hs.725184 FLJ21148 OTTHUMP00000196841|OTTHUMP00000196846|SET domain-containing protein 6 protein-coding 1606498 SETD7 SET domain containing (lysine methyltransferase) 7 2316155 19864627,20675860,16415881,12514135,19351588,19282482,19262565,18474616,18471979,18650421,17646389,17573780,15525938,15489334,15099517,12670868,12540855,12477932,12389038,12372304,11850410,11779497,11214970,18408754,19247474,19752191,20227666,20379614,17108971 2316155 80854 NM_030648,AC112236,AC114743,CH471056,AB051504,AF448510,AF462150,AK024846,AK310856,BC012784,BC040990,BC066361,BC110904,BC121055,BC121056,BM922680 NP_085151,AAY40937,EAX05114,BAB21808,AAL56579,AAL69901,AAI21056,AAI21057,Q8WTS6 Hs.480792 FLJ21193|KIAA1717|KMT7|SET7|SET7/9|SET9 H3-K4-HMTase SETD7|OTTHUMP00000220049|SET domain-containing protein 7|histone H3-K4 methyltransferase SETD7|histone H3-lysine 4-specific methyltransferase|histone-lysine N-methyltransferase SETD7|lysine N-methyltransferase 7 protein-coding 1602807 SETD8 SET domain containing (lysine methyltransferase) 8 15933069,18480059,18418072,18408754,18319261,18166648,17707234,15964846,15933070,15489334,12540855,12477932,12411495,12208845,12121615,12086618,8980232,20870725,20953199,21035370,17207965,20932471,20932472,18474616,18512960,19789321 387893 HQ259683,NM_020382,AC137767,AC145423,CH471054,AF287261,AK292645,AY064546,AY102937,BC050346,BQ773996,CR597635,CR597775,CR605053 ADP08984,ADQ32515,NP_065115,EAW98406,EAW98407,EAW98408,EAW98409,AAF97812,BAF85334,AAL40879,AAM47033,AAH50346,Q9NQR1 Hs.443735,Hs.572262 KMT5A|PR-Set7|SET07|SET8 H4-K20-HMTase SETD8|H4-K20-specific histone methyltransferase|H4K20-specific histone methyltransferase splice variant Set8b|OTTHUMP00000197454|PR/SET domain containing protein 8|PR/SET domain-containing protein 07|PR/SET07|SET domain-containing protein 8|histone-lysine N-methyltransferase SETD8|lysine N-methyltransferase 5A protein-coding 1641963 SETD8P1 SET domain containing 8 pseudogene 1 12477932,12208845,12086618,9847074 57108 AL356585,NG_003193,AC005283 SET07p|SET7 pseudo 1318101 SETDB1 SET domain, bifurcated 1 This gene encodes a histone methyltransferase. The encoded enzyme catalyzes the reaction of S-adenosyl-L-methionine and histone L-lysine to produce S-adenosyl-L-homocysteine and histone N(6)-methyl-L-lysine. The encoded protein likely functions in transcriptional repression. Alternatively spliced transcript variants have been described. 1580863,1359072 11791185,16682412,17577629,19124506,18498648,17142323,17066076,16713569,16344560,16169070,16097034,15899859,15691849,15489334,15383276,15327775,15231748,14702039,14536086,12869583,12477932,12421765,12398767,11959841,10343109,7584044,16710414,16567619,14611647,18029348,19498464,19884257,20936779,20383146 1359072 9869 NM_001145415,NM_012432,NR_026977,AL590133,CH471121,AI582266,AK095075,AK302461,AK308335,BC009362,BC028671,D31891,DA418593,DB062762,HC290201,HC290203 NP_001138887,NP_036564,CAI13325,CAI13326,CAI13327,CAI13328,CAQ08505,CAQ08506,EAW53503,EAW53504,EAW53505,EAW53506,EAW53507,EAW53508,BAG63752,AAH09362,AAH28671,BAA06689,Q15047,CBJ06473,CBJ06474 Hs.643565 ESET|H3-K9-HMTase4|KG1T|KIAA0067|KMT1E ERG-associated protein with SET domain|ERG-associated protein with a SET domain, ESET|H3-K9-HMTase 4|histone H3-K9 methyltransferase 4|histone-lysine N-methyltransferase SETDB1|histone-lysine N-methyltransferase, H3lysine-9 specific 4|lysine N-methyltransferase 1E protein-coding 1321179 SETDB2 SET domain, bifurcated 2 Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking cysteine residues required for catalytic activity (Zhang et al., 2003 [PubMed 12754510]).[supplied by OMIM] 1580863 16344560,15489334,15057823,12754510,12477932,11306461,20085599,20404330 83852 NM_031915,NM_001160308,AL136218,AL139321,CH471075,AB209349,AF086317,AF277186,AF334407,AK307593,AK308220,AK308354,AK311602,AL831937,AW297242,BC017078,BC028202,BC047434,CR597159,CR608721,DB164537,AL833957 NP_114121,NP_001153780,CAI10817,CAI10818,CAH71048,EAX08824,EAX08825,EAX08826,BAD92586,AAK38373,CAH56265,CAD38807,AAH17078,AAH47434,Q59FW0,Q8NDJ9,Q96T68 Hs.631789 C13orf4|CLLD8|CLLL8|DKFZp586I0123|DKFZp761J1217|KMT1F OTTHUMP00000018418|chronic lymphocytic leukemia deletion region 8|chronic lymphocytic leukemia deletion region gene 8 protein|histone-lysine N-methyltransferase SETDB2|lysine N-methyltransferase 1F protein-coding 1348585 SETMAR SET domain and mariner transposase fusion gene 9461395,18790802,18263876,17877369,17403897,17130240,16989604,16672366,16332963,15489334,12477932,9373149,9110174,8619474,8125298,7670491,16169070,20457750,19458360,20416268,18773976,20800603 6419 BG479260,CR600492,DC357038,U80776,NR_024022,AC023483,AC034191,CH471055,DQ341316,U52077,AF054989,AK222734,AK297865,AK302296,AK307537,AK311418,AY952295,BC008931,BC011635,NM_006515 AAC52012,Q53H47,Q96H41,NP_006506,EAW63903,EAW63904,EAW63905,ABC72087,AAC52010,AAC09350,BAD96454,BAG60194,BAG63636,AAY29570,AAH08931,AAH11635 Hs.716054 METNASE OTTHUMP00000207093|SET domain and mariner transposase fusion gene-containing protein|histone-lysine N-methyltransferase SETMAR|hsMar1 protein-coding 1343389 SETP2 SET pseudogene 2 326277 NG_002537,AL358332 pseudo 1347866 SETX senataxin This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq] 1580863 17562789,19141356,19058054,18405395,18350359,17593543,17096168,17081983,16964243,16717225,15732101,15489334,15164053,15106121,14770181,14702039,12477932,11022012,9734811,9497266,9373149,8889548,8125298,20800603,20936779,19515850,19569000,19593598,19744353,20379614 23064 NG_007946,NM_015046,AL159997,AL353701,CH471090,AB014525,AK001456,AK022902,AK024331,AK025601,AK125448,AK226007,AK302394,AK307608,AY362728,BC032600,BC032622,BC078166,BC106017,BC137350,BM718142,BX537849,BX538166,CR749249 NP_055861,CAI40857,CAM14151,EAW87997,EAW87998,EAW87999,EAW88000,BAA31600,BAA91701,BAB14299,BAC86166,BAG63708,AAR13367,AAH32600,AAH32622,Q7Z333,AAH78166,AAI06018,AAI37351,CAD97857,CAD98045,CAH18105,CAI40854 Hs.460317 ALS4|AOA2|DKFZp781B151|FLJ12840|FLJ43459|KIAA0625|SCAR1|bA479K20.2 OTTHUMP00000022429|SEN1 homolog|amyotrophic lateral sclerosis 4|amyotrophic lateral sclerosis 4 protein|probable helicase senataxin protein-coding 1320435 SEZ6 seizure related 6 homolog (mouse) 724667 17086543,16344560,14702039,12477932,12351182,9373149,8125298,7488116,16169070 724667 124925 AK125377,AK223620,AL834405,AY038048,BC069260,CR603576,DA123986,NM_001098635,NM_178860,AC024267,AC024619,CH471159,AF502129,AF502130,AK054913,AK055383,AK091522,AK096473 BAD97340,CAD39067,AAK71497,Q53EL9,AAI46293,NP_849191,NP_001092105,EAW51170,EAW51171,EAW51172,EAW51173,EAW51174,AAM22213,AAM22214,BAB70826,BAB70912,BAC03684 Hs.21837 SEZ-6|hSEZ-6|seizure protein 6 homolog protein-coding 1344560 SEZ6L seizure related 6 homolog (mouse)-like 1580863 19913121,20628086,17554300,19955471,20379614,20424129,19336575,17804757,15489334,15461802,12975309,12529303,12477932,11175339,10591208,10231032,11992124 23544 NM_001184773,NM_001184774,NM_001184775,NM_001184776,NM_001184777,NM_021115,AL022337,AL023513,AL078460,AL080273,CH471095,AB023144,AB041736,AK294790,AL035545,AL050253,AY358405,BC126115,BC143851,BC143854,BM875686,CR456574,BC037846 CAQ08972,CAQ08973,CAQ08974,CAQ08975,CAQ08976,CAQ10785,CAQ10786,CAQ10787,NP_001171702,NP_001171703,NP_001171704,NP_001171705,NP_001171706,NP_066938,CAI17997,CAI19980,CAQ08919,CAQ08920,CAQ08921,CAQ08922,CAQ08923,CAI20266,EAW59711,EAW59712,EAW59713,EAW59714,BAA76771,BAB40970,BAG57913,CAB37431,CAB43355,AAQ88771,AAI26116,AAI43852,AAI43855,CAG30460,Q9BYH1,CAK54604,CAK54903 Hs.194766 OTTHUMP00000198648|OTTHUMP00000198649|seizure 6-like protein|seizure related gene 6-like protein-coding 1606022 SEZ6L2 seizure related 6 homolog (mouse)-like 2 17207965,16344560,16303743,14702039,12975309,12477932,19242545,19260139,8619474,9110174 26470 NM_012410,NM_001114099,NM_001114100,AC120114,CH471238,AJ245820,AJ245821,AJ245822,AK027407,AK027676,AK074998,AY358404,NM_201575,BC000567,CR619068,CR622645,DA188718,EL733582,AF131749,AK293675,AK299103,GN088322 NP_963869,NP_036542,NP_001107571,NP_001107572,EAW79973,CAB57950,CAB57951,CAB57952,BAG51315,BAG51364,BAC11345,AAQ88770,AAH00567,Q6UXD5,Q8NC33,Q9BW82,ABW03462,BAH11566,BAH12950,CAX86995 Hs.6314 FLJ90517|PSK-1 seizure 6-like protein 2|type I transmembrane receptor (seizure related protein)|type I transmembrane receptor (seizure-related protein) protein-coding 1354478 SF Stoltzfus blood group 5365757,6948764 6420 1346504 SF1 splicing factor 1 8752089,9660765,18305892,15647371,7912130,9731529,18974054,18285458,17383426,17081983,16964243,16189514,15489334,15456888,15302935,12718882,12477932,12176931,11691992,11604498,11467860,10449420,9573336,9512519,9506990,9192847,9150140,8668206,1406644,18029348,20498720 7536 NM_201998,NM_201995,NM_201997,AJ000051,AJ000052,AP001462,CH471076,AK293753,AK296237,AK299705,AK301803,BC000773,BC008080,NM_004630,BC008724,BC011657,BC020217,BC032676,BC034451,BC038446,BC069273,BQ230035,BU624935,BX095574,CR600558,CR615439,D26120,D26121,D26122,L49345,L49380,Y08765,Y08766,AI492561,DC368015,DC370979,NG_021399,NM_001178030,NM_001178031,NR_033649,NR_033650 NP_004621,NP_973727,NP_973724,NP_973726,CAA03883,EAW74286,EAW74287,EAW74288,EAW74289,EAW74290,EAW74291,EAW74292,EAW74293,EAW74294,EAW74295,EAW74296,EAW74297,BAH11587,BAG58956,BAG61606,BAG63254,AAH00773,AAH08080,AAH08724,AAH20217,AAH38446,BAA05116,BAA05117,BAA05118,BAA05119,AAB03514,AAB04033,CAA70018,CAA70019,Q14820,Q14821,Q15637,ACE87725,ACE87042,NP_001171501,NP_001171502 Hs.708209,Hs.502829 BBP|D11S636|MBBP|ZFM1|ZNF162 mammalian branch point-binding protein|splicing factor 1|transcription factor ZFM1|zinc finger gene in MEN1 locus|zinc finger protein 162 protein-coding 1322957 SF3A1 splicing factor 3a, subunit 1, 120kDa This gene encodes subunit 1 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 1 belongs to the SURP protein family; named for the SURP (also called SWAP or Suppressor-of-White-APricot) motifs that are thought to mediate RNA binding. Subunit 1 has tandemly repeated SURP motifs in its amino-terminal half while its carboxy-terminal half contains a proline-rich region and a ubiquitin-like domain. Binding studies with truncated subunit 1 derivatives demonstrated that the two SURP motifs are necessary for binding to subunit 3 while contacts with subunit 2 may occur through sequences carboxy-terminal to the SURP motifs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20562859,10882114,10976766,17353931,15647371,12226669,18029348,17081983,15761153,15592455,15527767,15489334,15461802,15456888,15316075,15302935,12477932,12234937,11991638,11533230,11500380,11337467,11101529,10591208,10385517,9847074,9731529,8718683,8022796,7489498,11013263,17643375,19615732,20379614 10291 NM_005877,NM_001005409,AC004997,CH471095,AI681052,AK098463,AK303273,AU100212,AV750569,BC001976,BC007684,BF965438,BI827130,BQ212479,BQ223575,BQ437843,BQ447452,CA440158,CR456575,CR610639,CR612753,CR614325,X85237 NP_005868,NP_001005409,AAC23435,EAW59878,EAW59879,BAG64353,AAH01976,AAH07684,CAG30461,CAA59494,Q15459,CAK54605,CAK54904,ABM83613,ABM86857 Hs.406277,Hs.505597 PRP21|PRPF21|SAP114|SF3A120 SAP 114|pre-mRNA processing 21|pre-mRNA splicing factor SF3a (120 kDa subunit)|spliceosome associated protein 114|spliceosome-associated protein 114|splicing factor 3 subunit 1|splicing factor 3A subunit 1 protein-coding 1318510 SF3A2 splicing factor 3a, subunit 2, 66kDa This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq] 1580863 8211113,15647371,12226669,9731529,15489334,15316075,15231748,15142036,15057824,12477932,12234937,11991638,11602354,11533230,11500380,10882114,10385517,9710584,9576861,9016565,8718683,8541848,19615732,20379614 8175 NM_007165,AC005263,CH471139,L21990,AK314815,BC004434,BC009903,BC015804,BG325385,BQ642367,CR591027,CR591148,CR593621,CR593881,CR596440,CR600654,CR606588,CR608171,CR618008,CR618734,CR619009,CR619415,CR622079,CR623891 NP_009096,AAC25613,EAW69398,EAW69399,EAW69400,EAW69401,EAW69402,EAW69403,EAW69404,AAA60301,BAG37338,AAH04434,AAH09903,AAH15804,Q05DF2,Q15428,ABM87780 Hs.115232 PRP11|PRPF11|SAP62|SF3a66 SAP 62|pre-mRNA splicing factor SF3A, subunit 2|spliceosome associated protein 62|spliceosome-associated protein 62|splicing factor 3A subunit 2 protein-coding 1318668 SF3A3 splicing factor 3a, subunit 3, 60kDa This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. [provided by RefSeq] 1580863 19615732,18029348,7816610,17353931,15647371,12226669,9731529,18713018,17081983,16710414,16189514,15635413,15592455,15489334,15456888,15316075,14559993,12565890,12477932,12234937,11991638,11533230,11500380,10882114,9373149,8889548,8125298,8022796 10946 NM_006802,AL603790,CH471059,AI492088,AK026887,AK128438,AK222554,AK291181,AK292116,AK301424,BC002395,BC011523,BM702776,BM905122,CA443595,CR590005,CR598289,CR599719,CR603079,CR609638,CR610905,CR614728,CR615449,N67022,N91991,U08815 NP_006793,CAH69930,EAX07304,EAX07305,EAX07306,BAG54674,BAD96274,BAF83870,BAF84805,BAG62952,AAH02395,AAH11523,AAA19625,Q12874,Q53HM6,ABM82046,ABW03360 Hs.77897 PRP9|PRPF9|SAP61|SF3a60 SAP 61|pre-mRNA splicing factor SF3a (60kD)|spliceosome associated protein 61|spliceosome-associated protein 61|splicing factor 3A subunit 3 protein-coding 1342667 SF3A3P1 splicing factor 3a, subunit 3 pseudogene 1 170548 NG_001054,AL109805 SF3A3P|dJ581P3.1 splicing factor 3a, subunit 3 pseudogene pseudo 1603800 SF3A3P2 splicing factor 3a, subunit 3 pseudogene 2 449645 NG_004710,AP002765 pseudo 1346641 SF3B1 splicing factor 3b, subunit 1, 155kDa This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 15231748,16216881,16512921,15146077,11406595,9671485,15456888,20936779,9585501,17353931,12226669,18559850,18974054,18842582,18076038,17931603,17081983,16964243,16790528,16376933,15302935,14730023,14702039,12738865,12477932,12234937,12105215,11991638,11500380,10882114,10737800,10688664,9110174,8619474,18173839,11101529,10490618,9891079 23451 BC039020,BC046140,BC056155,BC064335,BC107883,BE168220,CD692669,CR596949,CR603673,NM_012433,NM_001005526,AC010746,CH471063,AF054284,AF070540,AF086296,AK057684,AK290470,AK294851,AK308122,AL137410,BC015530,BC029418 AAH56155,AAI07884,O75533,Q32Q20,Q7Z497,Q9NTB4,NP_036565,NP_001005526,EAW70146,AAC97189,AAC28633,BAF83159,BAG57955,CAB70728,AAH15530,AAH29418 Hs.632554 Hsh155|PRP10|PRPF10|SAP155|SF3b155 SAP 155|pre-mRNA processing 10|pre-mRNA splicing factor SF3b, 155 kDa subunit|pre-mRNA-splicing factor SF3b 155 kDa subunit|spliceosome associated protein 155|spliceosome-associated protein 155|splicing factor 3B subunit 1 protein-coding 1602118 SF3B14 splicing factor 3B, 14 kDa subunit This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq] 17353931,12226669,15635413,15592455,15489334,15146077,12738865,12477932,12234937,11500380,11329013,11042152,10931946,10810093,16432215,19773279 51639 NM_016047,AC008073,CH471053,AF151868,AF161523,AF184213,AF401310,AK000621,AK311118,AK311908,BC015463,BG200650 NP_057131,AAY14664,EAX00767,AAD34105,AAF29138,AAG09698,AAK94041,BAG34849,AAH15463,Q53TM1,Q9Y3B4 Hs.177861 CGI-110|HSPC175|Ht006|P14|SAP14|SF3B14a SF3b 14 kDa subunit|pre-mRNA branch site protein p14|spliceosome-associated protein, 14 kDa subunit protein-coding 1316185 SF3B2 splicing factor 3b, subunit 2, 145kDa This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq] 1580863 11101529,17643375,16189514,12634307,15146077,17353931,8566756,12226669,9731529,17081983,16923959,15635413,15456888,15302935,14651998,12477932,12234937,11991638,11500380,11287586,10882114,10490618,9601606,7958871,16571786,20696395 10992 NM_006842,AP006287,CH471076,AK126488,AK290850,AK300016,BC000401,BC007610,BC014125,BC051237,BC053577,BE677116,BF311442,BX537771,U41371 NP_006833,EAW74491,EAW74492,EAW74493,EAW74494,EAW74495,EAW74496,EAW74497,EAW74498,EAW74499,EAW74500,EAW74501,BAF83539,BAG61831,AAH00401,AAH07610,AAH14125,AAH53577,CAD97834,AAA97461,Q13435,Q7Z3K9 Hs.406423 Cus1|SAP145|SF3B145|SF3b1|SF3b150 SAP 145|pre-mRNA splicing factor SF3b 145 kDa subunit|pre-mRNA-splicing factor SF3b 145 kDa subunit|spliceosome associated protein 145|spliceosome-associated protein 145|splicing factor 3B subunit 2 protein-coding 1323197 SF3B3 splicing factor 3b, subunit 3, 130kDa This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq] 1580863 10490618,12029088,17353931,12226669,15489334,15324660,14702039,12601814,12477932,12234937,11991638,11564863,11500380,11438666,11406595,10428969,8889548,7584028,7584026,19019082,11013263,15146077,14559993,16169070,17643375,20379614 23450 CR617811,CR622673,D13642,D87686,AC106804,CH471241,AJ001443,AK001297,AK074933,AK291768,AL110251,AW449427,BC000463,BC003146,BC009780,BC068974,BI465052,CB241776,NM_012426 BAA02805,BAA32662,Q15393,NP_036558,EAW51803,EAW51804,EAW51805,CAB56791,BAG50889,BAG52033,BAF84457,CAB53699,AAH00463,AAH03146,AAH09780,AAH68974 Hs.514435 KIAA0017|RSE1|SAP130|SF3b130|STAF130 SAP 130|pre-mRNA splicing factor SF3b, 130 kDa subunit|pre-mRNA-splicing factor SF3b 130 kDa subunit|spliceosome-associated protein 130|splicing factor 3B subunit 3 protein-coding 1320131 SF3B4 splicing factor 3b, subunit 4, 49kDa This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq] 1580863 7958871,14667819,17353931,17474147,12226669,9731529,18391951,17513295,16236267,16189514,15592455,15489334,15456888,15351706,14702039,12738865,12477932,12234937,11500380,10882114,10490618,9373149,8125298,16923959,15146077,11101529 10262 AL590487,AL591493,CH471121,L35013,AK097315,AK223322,AK310495,BC004273,BC013886,BC090883,BM460550,CR591497,CR592826,CR594952,NM_005850,CR595486,CR600971,CR605255,CR614991,CR619749,CR620359,CR621149,CR623704 NP_005841,CAI12647,CAI12648,CAI12553,CAI12554,EAW53595,AAA60300,BAG53452,BAD97042,AAH04273,AAH13886,AAH90883,Q15427,Q53FG6,Q5SZ64,ABM83897,ABM87219,ABW03550 Hs.516160 Hsh49|MGC10828|SAP49|SF3b49 SAP 49|SF3b50|pre-mRNA splicing factor SF3b 49 kDa subunit|pre-mRNA-splicing factor SF3b 49 kDa subunit|spliceosomal protein|spliceosome-associated protein (U2 snRNP)|spliceosome-associated protein 49|splicing factor 3B subunit 4 protein-coding 1347608 SF3B4P splicing factor 3b, subunit 4, pseudogene 326276 NG_002536,AL135978 SF3B4P pseudo 1345762 SF3B5 splicing factor 3b, subunit 5, 10kDa 1580863 12234937,12226669,16381901,15489336,15489334,14574404,12477932,11256614,11076863,15146077,16341674 83443 NM_031287,AL031390,CH471051,AK074417,AK312079,BC000198,BK000562,BM823656 NP_112577,CAI19755,EAW47851,BAG35015,AAH00198,DAA00073,Q9BWJ5,CAL37949 Hs.110695 MGC3133|SF3b10|Ysf3 pre-mRNA-splicing factor SF3b 10 kDa subunit|splicing factor 3B subunit 5 protein-coding 1321429 SF4 splicing factor 4 SF4 is a member of the SURP family of splicing factors.[supplied by OMIM] 12226669,18029348,15489334,15057824,14702039,12594045,12477932,12176931,19060906,19656773,20864672 57794 NM_172231,AC003967,AC004475,AC022543,CH471106,AF521128,AK092745,AK096152,AK292085,AK294618,AK301119,AL137286,AL713757,AY072916,AY072917,BC001043,BC002986,BC063784,BC119728,BC119729,BC142988,CB960848,CR593392,CR606492,CR607324 NP_757386,AAC08052,EAW84808,EAW84809,EAW84810,EAW84811,EAW84812,AAN77123,BAG52606,BAF84774,BAG57801,BAG62715,CAB70678,CAD28528,AAL68960,AAL68961,AAH63784,AAI19729,AAI19730,AAI42989,Q0VDC7,Q8IWZ8 Hs.515274 DKFZp434E2216|F23858|RBP|SF4 RNA-binding protein RBP|SURP and G-patch domain-containing protein 1|splicing factor 4 protein-coding 1347387 SFI1 Sfi1 homolog, spindle assembly associated (yeast) 16189514,14702039,14504268,12477932,9628581,11101529,16009131,11076968,12221128,12852856,16462731,19857500,7790358 9814 NM_001007467,NM_014775,AL096701,AL096768,AL109802,CH471095,AB011114,AK055147,AK097004,AK292408,AK293987,AK303362,AL708501,BC021576,BC033613,BC041101,BC046221,BC110814,BC129926,BC129945 NP_001007468,NP_055590,CAI12881,EAW59980,EAW59981,EAW59982,EAW59983,BAA25468,BAF85097,BAH11642,BAH13949,AAH21576,AAI10815,AAI29927,AAI29946,A8K8P3,CAM14701,CAQ08997 Hs.62209 MGC131712|MGC150663|MGC156283|MGC57874|PISD|RP5-858B16.1|hSfi1p OTTHUMP00000195955|OTTHUMP00000206736|OTTHUMP00000208985|hSFI1|homolog of yeast Sfi1|protein SFI1 homolog protein-coding 1343140 SFMBT1 Scm-like with four mbt domains 1 This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. Several alternative splice variants have been characterized. [provided by RefSeq] 1580863 16344560,17599839,15489334,12477932,10661410,16189514 51460 NM_016329,NM_001005158,NM_001005159,AC096887,AC099667,AC103589,CH471055,AB189472,AF168132,AK313965,AL080140,AL523328,BC014614,BG717319,BG723139,BM560104,BU553665,AI206996,CR981845,DB064119,DB070525,DB081417,DB085221 NP_057413,NP_001005158,NP_001005159,EAW65271,EAW65272,EAW65273,BAE43835,AAF19794,BAG36680,CAB45734,AAH14614,Q402F7,Q9UHJ3,ABM83787,ABM87109 Hs.343679 DKFZp434L243|RU1|SFMBT Scm-related gene containing four mbt domains|Scm-related gene product containing four mbt domains|renal ubiquitous protein 1|scm-like with four MBT domains protein 1 protein-coding 1312812 SFMBT2 Scm-like with four mbt domains 2 15164054,14702039,10997877,12477932,16344560 57713 NM_001029880,AL138771,AL139125,AL158046,AL590095,CH471072,AB046837,AK090887,BC144327,BC152430,DA152101,NM_001018039 NP_001025051,CAI21746,CAI18944,CAI19142,CAH73318,EAW86385,BAB13443,AAI52431,Q5VUG0,AAI67860,NP_001018049 Hs.407983 OTTHUMP00000019055|Scm-related gene containing four mbt domains 2|scm-like with four MBT domains protein 2 protein-coding 1312341 SFN stratifin 2299930,2292009,2299931,2299928,2299929,2299933,2299936,1580863 19664078,20388496,20487521,8515476,11574543,10767298,19473536,19271751,19231067,19160382,19047086,18950492,18936350,18806827,18452139,18440129,18382127,18379196,18036402,18036248,17982629,17786341,17786288,17443672,17391729,17388661,17361185,17359284,16964403,16964243,16953367,16814250,16797759,16786000,16710414,16648560,16581770,16532026,16505098,16271083,16243811,16229802,16189514,16098031,16045749,15867223,15857578,15857577,15731107,15654971,15654940,15489902,15489334,15482563,15467455,15367659,15324660,15292943,15282546,15260850,15187095,15184053,15173315,15140222,15131044,15102672,15023544,14568170,14517281,12919677,12816952,12787309,12477932,12438239,12730237,12075357,11917136,11886850,10524633,9659898,1390337,1286667,15778465,11896572,16009130,15574328,12582028,19685192,20108042,20811675,20843328,21115893,12364343,12433946,15696159,16511572,16799092,16902409,17546054,17672938,18029348,19172738,19502805,19513498,19528459,19626586,19642975,19729831,19828132,19961842,20093232,20336542,20976731,21048031,16511560,20823509 2299930,2292009,2299931,2299928,2299929,2299933,2299936 2810 NM_006142,AF029081,AL034380,CH471059,AF029082,BC000329,BC000995,BC001550,BC002995,BC023552,CR541905,CR541926,M93010,X57348 NP_006133,AAC52029,CAB92118,EAX07786,EAX07787,AAC52030,AAH00329,AAH00995,AAH01550,AAH02995,AAH23552,CAG46703,CAG46724,AAA59546,CAA40623,P31947,ABM85088 Hs.523718 YWHAS 14-3-3 protein sigma|14-3-3 sigma|epithelial cell marker protein 1 protein-coding 1343285 SFPQ splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) 1580863 11101529,9848648,10653975,11259580,15231747,8449401,19447914,18655028,18445785,17965020,17639083,17537995,17507659,17452459,17318576,17081983,16938326,16832349,16731528,16169070,16024807,15782174,15668243,15635413,15590677,15231748,15140795,14559993,12944487,12840015,12477932,12417296,12403470,11897684,11790298,11525732,11514619,11161712,11060040,10931916,10858305,10847580,9756848,9409622,9393982,8439294,8045264,2480877,15975576,19339282,19809274,19812236,19874820,19144721,20932480,20936779,20605917 6421 NM_005066,AL590434,CH471059,AK307985,BC000546,BC004534,BC027708,BC027717,BC051192,CR622509,X16850,X70944 NP_005057,CAI12467,EAX07421,EAX07422,EAX07423,EAX07424,EAX07425,EAX07426,AAH04534,AAH27708,AAH51192,CAA34747,CAA50283,P23246,Q6PIX2,Q86VG2,Q9BSV4 Hs.355934 POMP100|PSF 100 kDa DNA-pairing protein|DNA-binding p52/p100 complex, 100 kDa subunit|PTB-associated splicing factor|PTB-associated-splicing factor|hPOMp100|polypyrimidine tract binding protein associated|polypyrimidine tract-binding protein-associated splicing factor|polypyrimidine tract-binding protein-associated-splicing factor|splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated)|splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)|splicing factor, proline- and glutamine-rich protein-coding 1349613 SFPQP splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene 12815422 23758 NG_002816,AC005820 SFPQP splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) pseudogene pseudo 735754 SFRP1 secreted frizzled-related protein 1 Secreted frizzled-related protein 1 (SFRP1) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP1 and SFRP5 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP1 is expressed in several human tissues, with the highest levels in heart. [provided by RefSeq] 2301712,2298808,4107084 11741940,9192640,9391078,19569235,19543515,19453261,19299079,19277043,19118898,19095296,19053830,18949430,18941195,18795670,18774388,18706212,18639284,18592156,18528941,18497987,18371946,18274669,18156211,18035687,17699851,17626620,17544413,17500071,17485441,17471511,17465504,17443492,17353908,17035233,16775427,16609023,16532032,16523202,16449975,16423993,16410723,16410684,16407829,16328026,16288033,16149051,16007200,15886250,15677765,15489334,15335268,15235574,14871816,14581477,12477932,12413893,11932307,11593386,10660608,10347172,9724099,9096311,12925876,9403839,8922468,7561057,9138296,11287180,20471677,20353273,18787224,19734317,10980594,19254787,19778523,12055200,16149501,17994217,19072540,20162454,20596629,19737074,15146197,16344560,19473496,19565266,19690140,19702942,19723665,19730886,20208569,20595636,20811686 2301712,2298808,4107084 6422 NM_003012,AC104393,AF229192,CH471080,AF001900,AF017987,AF056087,AK127331,AK293090,AL049995,BC004466,BC036503,CR613872,BQ002015,CB956696,CN271890,DA571541 NP_003003,AAK00753,EAW63260,EAW63261,AAB61576,AAB70793,AAC12877,BAC86934,BAF85779,AAH04466,AAH36503,Q05DS5,Q6ZSL4,Q8N474,Q9BZZ6 Hs.213424 FRP|FRP-1|FRP1|FrzA|SARP2 SARP-2|sFRP-1|secreted apoptosis-related protein 2|secreted frizzled-related protein 1 protein-coding 1345643 SFRP2 secreted frizzled-related protein 2 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq] 4107088 18029348,19458075,19453261,19299079,19095296,18990230,18795670,18592156,18528941,18497987,18404682,18079202,17848950,17639423,15094274,14709558,14702039,14561758,12975309,12477932,10654605,10072424,9853965,9642118,9391078,9096311,20795789,20596629,20602801,12055200,17410438,17352030,17081983,16609023,16407829,16303743,15489334,15340161,15146197,10980594,20501806,20723538,19389651,19513569,19593212,19926868,19946729,20208569,20403915,17471511,20682398 6423 NM_003013,AC020703,CH471056,AA449032,AF017986,AF311912,AK075372,AK093922,AY359001,BC008666,BM906663,BM924815,BQ130455,CN431016,HB436341 NP_003004,EAX04949,AAB70792,AAG24923,BAG52124,BAG52787,AAQ89360,AAH08666,Q96HF1,CAZ76869 Hs.481022 FRP-2|SARP1|SDF-5 SARP-1|sFRP-2|secreted apoptosis related protein 1|secreted apoptosis-related protein 1|secreted frizzled-related protein 2 protein-coding 1350997 SFRP4 secreted frizzled-related protein 4 Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq] 4107721 10211996,19562778,19480240,19453261,19396169,19299079,19146776,19040566,18945944,18938133,18592156,18528941,18079202,17476687,16609023,16356838,16151791,15705870,15489334,14760084,14517837,12952927,12477932,10728394,9409757,9096311,15607035,20596629,20613673,19730886,20403915,18166153 4107721 6424 NM_003014,AC018634,CH236951,CH471073,AF026692,AK302357,AK303977,AK313029,BC032828,BC047684,BC058911,BT019679,CR541731,CR541755,DQ420628 EAW94085,BAG64896,NP_003005,EAL23981,AAC04617,BAG63683,AAH47684,AAH58911,AAV38485,CAG46532,CAG46555,ABD83351,Q6FHJ7 Hs.658169 FRP-4|FRPHE|MGC26498 frizzled protein, human endometrium|sFRP-4|secreted frizzled-related protein 4|secreted frizzled-related protein 4; secreted frizzled-related protein 4 protein-coding 1321235 SFRP5 secreted frizzled-related protein 5 Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq] 10072424,9391078,19299079,18795670,18592156,18528941,18497987,18356147,16609023,15489334,15164054,12477932,9642118,9096311,20795789,19957335,19586554,19926868 6425 NM_003015,AL358938,CH471066,AF017988,AF117758,BC050435,CR596705 NP_003006,CAI14274,EAW49894,AAB70794,AAD25052,AAH50435,Q5T4F7 Hs.279565 SARP3 FRP-1b|SARP-3|frizzled-related protein 1b|sFRP-5|secreted apoptosis related protein 3|secreted apoptosis-related protein 3|secreted frizzled-related protein 5 protein-coding 1350049 SFRS1 splicing factor, arginine/serine-rich 1 This gene encodes a member of the arginine/serine-rich splicing factor protein family, and functions in both constitutive and alternative pre-mRNA splicing. The protein binds to pre-mRNA transcripts and components of the spliceosome, and can either activate or repress splicing depending on the location of the pre-mRNA binding site. The protein's ability to activate splicing is regulated by phosphorylation and interactions with other splicing factor associated proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20120036,16505493,16344560,16260492,16223727,16210245,16189514,16096057,15907217,15782174,15635413,15592455,15546619,15489334,15456888,15452250,15367627,15210956,15208309,15163745,15123677,14559993,14555757,12612063,12565863,12525645,12477932,12270705,12221105,12215544,12135490,11991638,11967326,11825891,11801589,11790298,11779509,11683387,11418604,11285240,11101529,10843177,10757789,10713112,10390541,10366588,10225947,10022843,9885563,9799243,9671816,9611241,9473574,9472028,9447963,9420331,9373149,9237760,9023367,8816452,8798720,8626563,8617202,8530103,8261509,8223481,8208298,8189522,8139654,8125298,7543047,7512732,1855257,1741384,1577277,12234937,17517895,9685421,14623875,20637698,20211142,20682707,20805487,10196197,15184380,15243141,15652350,17353931,1830244,12226669,19464723,19250906,19116412,19111562,19073146,18945764,18841201,18832178,18687337,18586677,18495665,18439897,18315555,18243119,18155240,17959926,17670832,17310252,17081983,16721827,16611940,20519389,16982639,17786225,19441081,19477182,19602482,19633418,19657567,19710015,20085707,20118245,20139984,20308322,20385090,20516191,8639538,19857271,20657585,20923760 6426 AK298527,NR_034041,NM_001078166,NM_006924,AC015813,CH471109,AB062124,AB209558,AK225711,AK289933,AK312781,BC010264,BC033785,CB044653,CR611166,DA939911,M69040,M72709 BAH12806,NP_001071634,NP_008855,EAW94485,EAW94486,EAW94487,EAW94488,EAW94489,EAW94490,EAW94491,EAW94492,BAB93456,BAD92795,BAF82622,BAG35644,AAH10264,AAA03476,AAA35564,AAA35565,Q07955,Q59FA2,AAH33785 Hs.68714 ASF|FLJ53078|MGC5228|SF2|SF2p33|SFRS1|SRp30a ASF-1|SR splicing factor 1|alternative-splicing factor 1|pre-mRNA-splicing factor SF2, P33 subunit|serine/arginine-rich splicing factor 1|splicing factor 2|splicing factor, arginine/serine-rich 1 protein-coding 1343968 SFRS11 splicing factor, arginine/serine-rich 11 This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. [provided by RefSeq] 1580863 17353931,1896467,12226669,18029348,18832053,17081983,16943417,14729963,14702039,12477932,10606266,9756848,8816452,20379614,20516191,17361132,19857271 9295 AL353771,CH471059,AB062486,AF086515,AK021742,AK300147,AK301670,AK310447,AK310666,AL832279,BC002784,BC009840,BC017359,BC022815,BC032727,BC040436,BX641004,CR614713,M74002,NM_004768,BX537679,BX640645,AK311184,AW084230,NM_001190987 NP_004759,CAI22333,CAI22334,CAI22335,CAI22336,EAX06458,EAX06459,BAB93511,BAG61933,BAG63143,AAH02784,AAH09840,AAH17359,AAH32727,AAH40436,CAE46007,AAA35554,Q05519,Q05BU6,Q5HYN2,Q5T757,Q5T760,Q6MZM2,Q6N079,Q6PJB9,Q6PJY9,Q6PKC9,Q8IWE6,CAI46272,CAE45791,Q8NI74,NP_001177916 Hs.479693 DKFZp686M13204|FLJ18226|NET2|SFRS11|dJ677H15.2|p54 OTTHUMP00000010937|SR splicing factor 11|arginine-rich 54 kDa nuclear protein|serine/arginine-rich splicing factor 11|splicing factor p54|splicing factor, arginine/serine-rich 11 protein-coding 1352789 SFRS12 splicing factor, arginine/serine-rich 12 SFRS12 belongs to the superfamily of serine/arginine-rich (SR) splicing factors. It modulates splice site selection by regulating the activities of other SR proteins (Barnard et al., 2002 [PubMed 11991645]).[supplied by OMIM] 1580863 20400856,17353931,15489334,15456940,14702039,14559993,12477932,12403470,12183448,12176931,12043562,11991645,10757789 140890 NM_001077199,NM_139168,AC008772,AC025442,CH471137,AB209694,AF459094,AK091758,AK125893,AK308287,AL049309,AL832888,AW963850,BC017000,BC047322,BC067770,BC112343 NP_001070667,NP_631907,EAW51328,EAW51329,EAW51330,EAW51331,BAD92931,AAL67778,BAG52411,CAH10414,AAH47322,AAH67770,AAI12344,Q59EW7,Q69YM5,Q8WXA9 Hs.519347 DKFZp564B176|MGC133045|SFRS12|SRrp508|SRrp86 OTTHUMP00000123466|serine-arginine-rich splicing regulatory protein 508|serine-arginine-rich-splicing regulatory protein 86|serine/arginine-rich-splicing regulatory protein 86|splicing factor, arginine/serine-rich 12|splicing regulatory protein 508 protein-coding 1604479 SFRS12IP1 SFRS12-interacting protein 1 15456940,14702039,12477932,20379614 285672 NM_173829,AC008898,CH471137,AK094073,AL832348,BC047006,BC108716,BC127085,BC127086,CR619130 NP_776190,EAW51366,EAW51367,EAW51368,BAC04279,AAI08717,AAI27086,AAI27087,Q8N9Q2 Hs.69504 FLJ36754|MGC131910|MGC150548|MGC150549|P18SRP|SFRS12IP1 OTTHUMP00000221852|SFRS12-interacting protein 1|p18 splicing regulatory protein|protein SFRS12IP1|splicing regulatory protein of 18 kDa protein-coding 1314432 SFRS14 splicing factor, arginine/serine-rich 14 This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq] 16713569,16565220,15489334,15302935,15057824,12594045,12477932,9205841,20211142 10147 NM_001017392,AC004447,CH471106,AB002363,AF518874,AI039052,AK025508,AK074842,AK291275,AK299860,AL832488,BC020586,BX647813,BX647933,CR594892,CR607078,DC335817,CR627095,NM_014884 NP_055699,NP_001017392,AAC06129,EAW84766,EAW84767,EAW84768,EAW84769,EAW84770,EAW84771,EAW84772,EAW84773,BAA20820,AAN77117,BAF83964,BAG61716,CAI46117,AAH20586,CAI46012,Q5HCH9,Q8IX01,CAI46255 Hs.515271 DKFZp686M2322|DKFZp779L2418|FLJ21855|SFRS14 SURP and G-patch domain-containing protein 2|arginine/serine-rich 14 splicing factor|arginine/serine-rich-splicing factor 14|putative splicing factor, arginine/serine-rich 14|splicing factor, arginine/serine-rich 14 protein-coding 1317892 SFRS15 splicing factor, arginine/serine-rich 15 This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 19913121,20628086,18550522,17914031,17081983,16344560,15489334,15302935,12477932,10830953,10574461,8692929,12692135,18029348,19423540,20406964,20438785 57466 BC031898,BC043353,BC052286,BC064990,CR603649,DA016102,NM_020706,NM_001145445,AP000254,AP000255,CH471079,AB032998,AF023142,AK025748,AK027017,AK057840,AK308406,AL117417,AL834304,BC014921,NM_001145444 AAH43353,AAH52286,AAH64990,O95104,Q0P607,AAH14921,NP_001138916,NP_065757,NP_001138917,EAX09884,EAX09885,EAX09886,EAX09887,EAX09888,BAA86486,AAD09327,CAB55911,CAD38974 Hs.17255 DKFZp434E098|FLJ23364|KIAA1172|SCAF4|SFRS15|SRA4 CTD-binding SR-like protein rA4|OTTHUMP00000107308|SR-like CTD-associated factor 4|pre-mRNA splicing SR protein rA4|splicing factor serine alanine 15|splicing factor, arginine/serine-rich 15 protein-coding 1347770 SFRS16 splicing factor, arginine/serine-rich 16 17081983,16713569,16189514,15761153,15489334,15302935,14702039,12975309,12477932,12169693,14623875,19773279 11129 BC131496,CR604154,AC011489,AF042810,CH471126,AF042800,AK074590,AK094681,AK293333,AL080189,AY358944,BC013178,BC080554,NM_007056 Q8N2M8,NP_008987,AAC82340,EAW57317,EAW57318,EAW57319,AAC82339,BAG52910,BAG56849,AAQ89303,AAH80554 Hs.466917 CLASP|FLJ90109|SFRS16|SWAP2 Clk4 associating SR-related protein|splicing factor, arginine/serine-rich 16|splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila)|splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, drosophila)|suppressor of white apricot homolog 2|suppressor of white-apricot homolog 2 protein-coding 1606031 SFRS17A splicing factor, arginine/serine-rich 17A 19840947,16982639,17353931,1438229,17081983,15489334,14759258,12477932,9736779,8889548,1302606,16189514 8227 NR_027383,AL683807,CH471074,BC015800,BC016935,BC028151,BC110496,BC110497,BM046630,BM713425,CR620922,L03426,M99578,NM_005088,NG_021470,AK308367 Q05DA9,NP_005079,CAI41499,CAI41501,EAW98687,AAH16935,AAH28151,AAI10497,AAI10498,AAA61303,AAA61304,AAA36187,Q02040 Hs.522572 721P|AKAP-17A|CCDC133|CXYorf3|DXYS155E|FLJ98315|MGC125365|MGC125366|MGC39904|PRKA17A|SFRS17A|XE7|XE7Y A-kinase anchor protein 17A|B-lymphocyte surface antigen|protein kinase A-anchoring protein 17A|pseudoautosomal gene XE7|splicing factor, arginine/serine-rich 17A protein-coding 1316570 SFRS18 splicing factor, arginine/serine-rich 18 17081983,16344560,15489334,15302935,14702039,14578391,14574404,12477932,20936779 25957 AJ420559,AJ420570,AK027658,AK027759,AK027898,AK074628,AK291155,AL080186,BC007791,BC012780,BC019074,BC024655,BC042850,BC052638,BC064413,BC064640,BC107700,BX648520,CR623227,DA208838,NM_015491,NM_032870,AL513550,CH471051,AF161379,AF161424,AF314184,AF314185,AF314186 AAL76165,BAB55273,BAB55350,BAB55440,BAC11098,BAF83844,CAB45767,AAH07791,AAH12780,AAH19074,AAH42850,AAH52638,AAH64413,AAH64640,AAI07701,Q3B7B6,Q4G0P9,Q6PJQ9,Q8TEZ9,Q8TF01,AAI72321,NP_056306,NP_116259,CAI17194,EAW48475,EAW48476,EAW48477,EAW48478,EAW48479,EAW48480,EAW48481,AAF28939,AAF28984,AAL76163,AAL76164 Hs.520287 C6orf111|DKFZp564B0769|FLJ14752|FLJ14853|FLJ14992|FLJ90147|HSPC306|MGC104269|RP11-98I9.2|SRrp130|bA98I9.2 SR rich protein|SR-related protein|SR-rich protein|serine-arginine-rich-splicing regulatory protein 130|serine/arginine-rich-splicing regulatory protein 130|splicing factor, arginine/serine-rich 130|splicing factor, arginine/serine-rich 18 protein-coding 1343626 SFRS2 splicing factor, arginine/serine-rich 2 1580863 20547768,9447963,15652350,8530103,12226669,15798186,19177009,19005234,18806759,18586677,18025108,17353911,17081983,16990281,16964243,16761280,16713569,15907217,15798212,15511225,15489334,15302935,15208309,15123677,14703516,14702039,14684736,14559993,12837281,12665590,12565890,12477932,12239324,11991645,11980906,11967326,11790298,11779509,11683997,11683387,11448987,11313942,11239462,11101696,10757789,10082253,9774382,9601515,9541613,9513048,9473574,9373149,9358160,9237760,8816452,8361546,8302870,8261509,8139654,8125298,7546906,7543047,3031469,1577277,1557353,1465383,1373910,9472028,10983978,10908574,17353931,11090190,10893273,11101529,16344560,19857271,20703835,20615469,12799190,15988025,16052631,19648116,19843576,20085707,20516191 6427 CR597972,CR605207,CR618477,CR620472,CR621293,CR623313,CR624890,CR626719,M90104,X62447,CR593478,NM_003016,AC005837,CH471099,CQ859722,L03693,X75755,AK092489,AK093626,AK097069,AK098209,AK123712,AK124792,AK126432,AK223252,BC000339,BC001303,BC066958,BC070086,BT007250,DA513281,DC361254,EB388696,NM_001195427,NR_036608 AAA60306,CAA44307,Q01130,Q53FN0,Q6NXQ0,Q8N220,Q8NAK9,ABM82136,ABM85319,NP_003007,EAW89439,EAW89440,EAW89441,EAW89442,EAW89443,EAW89444,EAW89445,EAW89446,EAW89447,EAW89448,CAH25911,AAA60162,CAA53383,BAC03903,BAC04206,BAG53419,BAG53593,BAG53944,BAG54097,BAG54327,BAD96972,AAH00339,AAH01303,AAH66958,AAH70086,AAP35914,NP_001182356 Hs.584801,Hs.728125 PR264|SC-35|SC35|SFRS2|SFRS2A|SRp30b SR splicing factor 2|serine/arginine-rich splicing factor 2|splicing component, 35 kDa|splicing factor SC35|splicing factor, arginine/serine-rich 2 protein-coding 1602725 SFRS2B splicing factor, arginine/serine-rich 2B The SR (serine/arginine-rich) family contains a number of phosphoproteins that function as essential and alternative splicing factors. The SR family of proteins is characterized by the presence of a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The protein encoded by this gene is a member of the SR family and functions as an essential splicing factor in vitro. This gene is thought to be an expressed PR264/SC35 retropseudogene. [provided by RefSeq] 20516191,17361132,16344560,14702039,14559993,12477932,11058868,9671500 10929 CR611239,CR623195,NM_032102,AF031165,AP001264,CH471065,AF031166,AJ270685,AK023379,AK312514,BC057783,CB215027,DA882851 NP_115285,AAK54350,EAW66954,EAW66955,EAW66956,AAK54351,BAG51186,BAG35415,AAH57783,Q9BRL6 Hs.476680,Hs.713908 SFRS2B|SRP46 SR splicing factor 8|pre-mRNA-splicing factor SRP46|serine/arginine-rich splicing factor 8|splicing factor SRp46|splicing factor, arginine/serine-rich 2B|splicing factor, arginine/serine-rich, 46kD protein-coding 1354010 SFRS2IP splicing factor, arginine/serine-rich 2, interacting protein 1580863 19668339,20379614,9447963,9224939,17081983,16611372,15489334,15302935,14702039,12477932,10508479,10069390,8208298 9169 AC000015,AC084878,CH471111,AF030234,AF147405,AK026473,AK096682,AK302999,AK314093,BC017465,BC017851,BC033589,BC040951,Y11251,NM_004719 NP_004710,EAW57892,EAW57893,EAW57894,AAC39565,BAG64134,BAG36788,AAH17851,AAH33589,AAH40951,CAA72121,Q99590,AAI41553 Hs.727484 CASP11|SFRS2IP|SIP1|SRRP129|SRSF2IP CTD-associated SR protein 11|SC35-interacting protein 1|SFRS2-interacting protein|SRSF2-interacting protein|renal carcinoma antigen NY-REN-40|serine/arginine-rich splicing factor 2, interacting protein|serine/arginine-rich splicing factor 2-interacting protein|splicing factor, arginine/serine-rich 2, interacting protein|splicing factor, arginine/serine-rich 2-interacting protein|splicing regulatory protein 129 protein-coding 1319459 SFRS3 splicing factor, arginine/serine-rich 3 9647638,2030943,15169763,12226669,19250906,19047369,18952824,18945760,17183366,17081983,17028590,16713569,15827065,15489334,15324660,15231747,14702039,14559993,12890497,12634307,12477932,11991645,11790298,11336712,10823932,10809782,10757789,10390541,9447963,9420331,8208298,1577277,9472028,17353931,16341674,19857271,20639886,20810723,17036044,17643375,19602482,20085707,20227104,20376328,20516191 6428 NM_003017,CH471081,Z85986,AB451229,AB451352,AF107405,AK091927,AK095580,AK304097,AK312553,BC000914,BC069018,BT007017,CR595256,CR599324,CR599518,CR601962,CR608185,CR611557,CR612246,CR612662,CR613674,CR617139,CR617752,CR621528,CR621558,CR622370,CR622471,CR624175,CR624897,L10838,BM833102,DC398250,NR_036610 NP_003008,EAX03898,EAX03899,EAX03900,EAX03901,EAX03902,EAX03903,CAI19115,BAG70043,BAG70166,AAD44523,BAG65003,BAG35450,AAH00914,AAH69018,AAP35663,AAA36648,P84103 Hs.405144 SFRS3|SRp20 pre-mRNA-splicing factor SRP20|serine/arginine-rich splicing factor 3|splicing factor, arginine/serine-rich 3|splicing factor, arginine/serine-rich, 20-kD protein-coding 1350526 SFRS4 splicing factor, arginine/serine-rich 4 This gene encodes a member of the arginine/serine-rich splicing factor family. The encoded protein likely functions in mRNA processing. [provided by RefSeq] 1580863 8321209,12226669,17361132,17081983,16710414,15761153,15592455,15489334,14578391,14559993,12581738,12477932,10983978,10390541,9531537,9447963,9373149,8125298,7651409,1577277,16169070,14623875,8208298,16189514,20685659,19857271,19759008,20516191 6429 NM_005626,AC004236,AL357500,AL590729,CH471059,AB209856,AK223444,AK291509,AK293706,AK310528,BC002781,BT007415,CR594929,CR595944,CV814357,DC391985,L14076 NP_005617,AAC04476,CAH71635,CAI14326,EAX07657,EAX07658,EAX07659,BAD93093,BAD97164,BAF84198,BAG57139,AAH02781,AAP36083,AAA36649,Q08170,Q53F45,Q59EF5,ABM84772 Hs.469970 SFRS4|SRP75 SR splicing factor 4|SRP001LB|pre-mRNA-splicing factor SRP75|serine/arginine-rich splicing factor 4|splicing factor, arginine/serine-rich 4 protein-coding 734021 SFRS5 splicing factor, arginine/serine-rich 5 729792,1580863 20427542,14759258,12762840,7556075,12226669,17081983,16990281,16103121,15489334,15302935,15163745,15123677,12665590,12477932,9531537,9434190,9244433,9110174,8619474,7686911,1577277,9472028,10983978,9799243,16169070,14623875,10390541,8208298,14559993,19857271,15761153,19843576,20376328,20516191 729792 6430 NM_001039465,NM_006925,AF020307,AL157789,CH471061,CR542182,AA640719,AB451250,AB451374,AF070562,AK296113,AK300560,AK311805,BC018823,BC029984,BC040209,BC095420,BF213008,BT007089,BU928782,BX247988,BX640605,CR542167,CR590038,CR595330,CR598816,CR599379,CR600334,CR601743,CR607468,CR610617,CR614547,CR615285,CR615896,CR622610,CR625732,CR626817,U30826,U30827,U30884,AB209804 NP_001034554,NP_008856,AAC39543,EAW81002,EAW81003,EAW81004,EAW81005,EAW81006,EAW81007,EAW81008,EAW81009,EAW81010,BAG70064,BAG70188,BAG58862,BAG62266,BAG34748,AAH18823,AAH40209,AAP35752,CAD62322,CAE45711,CAG46964,CAG46979,AAA93070,AAB60405,AAA93074,Q13243,Q59EK7,Q6FGE0,Q86U32,BAD93041 Hs.632326 HRS|SFRS5|SRP40 SR splicing factor 5|delayed-early protein HRS|pre-mRNA-splicing factor SRP40|serine/arginine-rich splicing factor 5|splicing factor, arginine/serine-rich 5 protein-coding 1342668 SFRS6 splicing factor, arginine/serine-rich 6 The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. [provided by RefSeq] 1580863 15635413,15489334,15302935,14559993,12779084,12549978,12549914,12531473,12477932,11780052,11549316,10983978,10757789,10340541,10092085,9649504,9436904,8208298,7651409,1577277,9671816,9472028,17361132,20427542,18029348,20685659,16189514,17353931,7556075,12226669,19165527,18571879,18315555,17081983,16341674,19913121,20628086,19710015,20516191,19857271 6431 AV704620,NR_034009,BM788391,NM_006275,AL031681,CH471077,AB208976,AB451251,AB451375,AK291203,AK300411,AL110214,BC006832,CR591046,CR605163,CR606848,DC306805,U30828,U30883,BM830876 NP_006266,CAB43960,EAW75964,EAW75965,EAW75966,EAW75967,BAD92213,BAG70065,BAG70189,BAF83892,BAH13279,AAH06832,AAA93071,AAA93073,Q13247,Q59GY3 Hs.708261 B52|FLJ08061|MGC5045|SFRS6|SRP55 SR splicing factor 6|arginine/serine-rich splicing factor 6|pre-mRNA splicing factor SRP55|pre-mRNA-splicing factor SRP55|serine/arginine-rich splicing factor 6|splicing factor, arginine/serine-rich 6|splicing factor, arginine/serine-rich, 55 kDa protein-coding 1316615 SFRS7 splicing factor, arginine/serine-rich 7, 35kDa 1580863 15169763,8013463,12226669,19165527,17513303,17137791,17081983,15907217,15489334,15302935,15210956,15184380,15146077,15123677,14702039,14684736,14559993,12501247,12477932,12221105,11096110,9685386,9373149,8871564,8125298,7629084,17353931,20857263,19857271,16055720,17036044,18624398,19854136,20227104,20516191 6432 NM_001031684,AC074366,CH471053,L41887,AF055270,AK091425,AK225141,AK293667,AK297161,AY166860,AY513287,BC000997,BC017369,BC017908,BC022328,BT006745,CR598097,CR598891,CR603929,CR606408,CR611966,L22253,NM_001195446,DC358626,AB445102 NP_001026854,AAX93102,EAX00363,EAX00364,EAX00365,EAX00366,AAA88098,AAF00003,BAC03661,BAG57113,BAG59658,AAN87842,AAT08040,AAH00997,AAH17369,AAH17908,AAH22328,AAP35391,AAA35495,Q16629,Q564D3,Q8NB80,Q9UL60,NP_001182375,BAI99737 Hs.309090 9G8|AAG3|SFRS7 OTTHUMP00000203974|SR splicing factor 7|aging-associated protein 3|serine/arginine-rich splicing factor 7|splicing factor 9G8|splicing factor, arginine/serine-rich 7|splicing factor, arginine/serine-rich 7, 35kDa protein-coding 1312773 SFRS8 splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila) This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Multiple alternatively spliced variants have been identified although their full-length natures have not been characterized to date. [provided by RefSeq] 1580863 17353931,8940107,17081983,15302935,12477932,8206918,16738036,20379614 6433 NM_004592,AB208921,BC008707,BC015953,BC024041,BC113420,BC136678,AC131009,CH471054,BC142980,BC144364,U08377,AC117500 NP_004583,EAW98526,EAW98527,BAD92158,AAH08707,AAH15953,AAH24041,AAI36679,AAI42981,AAI44365,AAA19604,Q12872,Q59H38,Q8IV81 Hs.308171 MGC167082|SFRS8|SWAP splicing factor, arginine/serine-rich 8|splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)|splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)|suppressor of white apricot protein homolog protein-coding 1319864 SFRS9 splicing factor, arginine/serine-rich 9 1580863 7556075,12226669,18534987,17548433,17540466,17081983,16964243,16541075,15695522,15489334,15302935,15009090,12738786,12604611,12477932,12024014,11875052,11790298,11694584,11118435,10823932,10196175,10022843,9685386,9671816,17643375,19557313,20376328,20516191,19857271 8683 NM_003769,AL021546,CH471054,U87279,AA845918,AI005398,AK290644,BC093971,BC093973,BU786332,CR593564,CR598070,CR603096,CR606248,CR607246,CR615364,CR617389,U30825,AK294254 NP_003760,CAA16498,EAW98194,AAD00626,BAF83333,AAH93971,AAH93973,AAA93069,Q13242,BAG57550 Hs.706889,Hs.369624 SFRS9|SRp30c SR splicing factor 9|pre-mRNA-splicing factor SRp30C|serine/arginine-rich splicing factor 9|splicing factor, arginine/serine-rich 9 protein-coding 1353282 SFRS9P1 splicing factor, arginine/serine-rich 9 pseudogene 1 10830953 54021 NG_000902,AP000692,AP001725 SFRS9P1 pseudo 1343304 SFT2D1 SFT2 domain containing 1 15489334,14574404,12477932 113402 NM_145169,AL022069,AL121956,CH471051,CS072430,AF041429,BC018969,BC028388 NP_660152,CAI19656,CAI22197,EAW47533,EAW47534,EAW47535,CAI93568,AAF18564,AAH18969,AAH28388,Q4G178,Q8WV19 Hs.487143 C6orf83|MGC19825|pRGR1 SFT2 domain-containing protein 1|chromosome 6 open reading frame 83|vesicle transport protein SFT2A protein-coding 1605217 SFT2D2 SFT2 domain containing 2 19536175,19064610,16710414,15489334,14702039,12975309,12477932,17207965 375035 NM_199344,AL009051,CH471067,AK290325,AL035297,AY358675,BC068098 NP_955376,CAI22642,CAI22643,EAW90822,BAF83014,CAA22897,AAQ89038,AAH68098,O95562,ADQ32037 Hs.645435 FLJ34085|RP4-747L4.1|UNQ512|dJ747L4.C1.2 SFT2 domain-containing protein 2|vesicle transport protein SFT2B protein-coding 1603003 SFT2D3 SFT2 domain containing 3 16303743,15815621,12477932,8889548 84826 NM_032740,AC006011,CH471103,AK074549,AW058154,BC006808,BC063637,BU074308,BU736338,CB990183,BC110324 NP_116129,AAX82032,EAW95340,EAW95341,BAC11053,Q587I9 Hs.345849,Hs.700855 MGC5391 SFT2 domain-containing protein 3|vesicle transport protein SFT2C protein-coding 1344361 SFTA1P surfactant associated 1 (pseudogene) 207107 NR_027082,AY102069,AL136452 Hs.31562 SFTPF pseudo 1351266 SFTA3 surfactant associated 3 12477932,11181995,19913121,20628086 253970 NM_001101341,AL132857,CH471078,AK027147,AY102071,BC042093,BC129834 EAW65860,EAW65861,P0C7M3,NP_001094811 Hs.509165 FLJ23494|SFTPH putative protein SFTA3|surfactant associated protein H|surfactant-associated protein 3|surfactant-associated protein H protein-coding 736369 SFTPA1 surfactant protein A1 1578322,4143394,4143411,4143436,4143451,4143433,4143462,4143437,4143403,4143409,4143431,4143449,4143452,4143379,4143407,4143439,4143423,4143384,4143429,4143489,4143428,4143450,4144873,4144870,4144874,4143446,4143281,4144876,4143472,4143506,4144871,4144875,4143495,4143505,4144872,4143430,4143464,4143453,4143516,4143288,4143289,4143398,4143387,4143454 20540853,20693318,20864512,20963503,2995821,19392648,19378784,19287351,19264843,19181744,18983439,18828058,18710635,18595202,18554451,18523248,18463356,18443188,18285549,18022079,17905854,17874049,17848554,17580966,17128993,15489334,15164054,14702039,13680361,12477932,20708093,10781424,11063734,11087951,11105614,11149893,11174628,11245991,11714829,11724772,11751208,11807709,12040027,12055204,12244146,12244199,12421966,12437362,12476938,12505869,12654642,12654643,12743564,12750409,12777246,12794007,12817025,12842807,12846554,1372511,14531999,14617519,14633512,14720435,14751851,15026426,15075250,15102713,15145932,15216431,15274124,15308505,15377498,15608147,15615713,1577827,15845487,15890661,15894557,15932345,15996209,16061856,16081790,16114131,16162765,16292672,16330552,16344560,16385451,16429424,16581766,16754682,16827183,16884531,16889547,17083016,17220308,17264398,17293378,17311505,17343789,17407567,17524024,18251786,1935736,1986781,20048345,20056602,20233942,20448439,2884868,8226864,8354874,8360162,8406480,8494055,8663107,9204768,9294011,15696492,11181995,10762543,9813381,3755136,2610270,10101009 1578322,4143394,4143411,4143436,4143451,4143433,4143462,4143437,4143403,4143409,4143431,4143449,4143452,4143379,4143407,4143439,4143423,4143384,4143429,4143489,4143428,4143450,4144873,4144870,4144874,4143446,4143281,4144876,4143472,4143506,4144871,4144875,4143495,4144872,4143430,4143464,4143453,4143516,4143288,4143289,4143398,4143387,4143454 653509 HQ021433,HQ021434,HQ021435,HQ021436,HQ021437,HQ021438,HQ021439,HQ021440,HQ021441,HQ021442,NM_001093770,NM_005411,AY198391,BX248123,CH471083,AK290703,AK298002,AK298029,AK298034,AK298092,AK309518,AK316196,BC026229,BC029913,BC111570,BI820937,BC171875,BM996243,DA588383,NG_021189,NM_001164644,NM_001164645,NM_001164646,NM_001164647 ADO27684,ADO27685,ADO27676,ADO27677,ADO27678,ADO27679,ADO27680,ADO27681,ADO27682,ADO27683,NP_001087239,NP_005402,AAO13486,CAI16065,CAI16066,CAI16067,EAW54657,EAW54658,EAW54659,EAW54660,BAF83392,BAG60308,BAG60331,BAG60335,BAG60377,BAH14567,AAH29913,AAI11571,Q8IWL2,AAI71875,NP_001158116,NP_001158117,NP_001158118,NP_001158119 Hs.523084,Hs.535295,Hs.725773 COLEC4|FLJ50593|FLJ51913|FLJ61144|FLJ77898|FLJ79095|FLJ99559|MGC133365|MGC198590|PSAP|PSP-A|PSPA|SFTP1|SFTPA1B|SP-A|SP-A1|SPA|SPA1 35 kDa pulmonary surfactant-associated protein|OTTHUMP00000019929|OTTHUMP00000019930|OTTHUMP00000019931|alveolar proteinosis protein|collectin-4|pulmonary surfactant-associated protein A1|surfactant protein A1 variant AB'D' 6A2|surfactant protein A1 variant AB'D' 6A3|surfactant protein A1 variant AB'D' 6A4|surfactant protein A1 variant ACD' 6A2|surfactant protein A1 variant ACD' 6A3|surfactant protein A1 variant ACD' 6A4|surfactant protein A1 variant AD' 6A|surfactant protein A1 variant AD' 6A2|surfactant protein A1 variant AD' 6A3|surfactant protein A1 variant AD' 6A4|surfactant protein A1B|surfactant, pulmonary-associated protein A1A|surfactant, pulmonary-associated protein A1B protein-coding 1346707 SFTPA2 surfactant protein A2 1578322,4143445 20466729,20693318,19543369,19392648,19100526,18983439,18828058,18487360,17580966,16489761,16406431,15489334,15164054,12477932,9373149,8125298,3755136,2610270,1372511,10781424,11087951,16385451,1986781,19914637,20048345,20448439,9476117 1578322,4143445 729238 HQ021421,HQ021422,HQ021423,HQ021424,HQ021425,HQ021426,HQ021427,HQ021428,HQ021429,HQ021430,HQ021431,HQ021432,NM_001098668,BX248123,AK225599,AK298041,AK298074,AK298114,AK313179,AK316192,BC111571,BC139727,BC157866,BC157890,K03475,NG_013046 ADO27664,ADO27665,ADO27666,ADO27667,ADO27668,ADO27669,ADO27670,ADO27671,ADO27672,ADO27673,ADO27674,ADO27675,NP_001092138,CAI16061,CAI16062,BAH12710,BAH12720,BAH12725,BAG35996,BAH14563,AAI11572,AAI39728,AAI57867,AAI57891,AAA36520,Q8IWL1 Hs.523084 COLEC5|FLJ50594|FLJ50597|FLJ51953|FLJ79091|FLJ93678|MGC133169|MGC133366|MGC189714|MGC189761|PSAP|SFTP1|SFTPA2B|SPA2|SPAII 35 kDa pulmonary surfactant-associated protein|OTTHUMP00000019933|PSP-A|PSPA|SP-A|alveolar proteinosis protein|collectin 5|collectin-5|pulmonary surfactant-associated protein A2|surfactant protein A2 variant ABD 1A|surfactant protein A2 variant ABD 1A0|surfactant protein A2 variant ABD 1A1|surfactant protein A2 variant ABD 1A2|surfactant protein A2 variant ABD 1A3|surfactant protein A2 variant ABD 1A5|surfactant protein A2 variant ABD' 1A|surfactant protein A2 variant ABD' 1A0|surfactant protein A2 variant ABD' 1A1|surfactant protein A2 variant ABD' 1A2|surfactant protein A2 variant ABD' 1A3|surfactant protein A2 variant ABD' 1A5|surfactant, pulmonary-associated protein A2A protein-coding 1351946 SFTPAP1 surfactant, pulmonary-associated protein A pseudogene 1 1827027,1827027 100288405,6437 BX248123,NG_016155 COLEC6|SFTPAP1|SFTPP1 pseudo 737197 SFTPB surfactant protein B The SFTPB gene encodes the pulmonary-associated surfactant B protein (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a lipid-rich material that prevents lung collapse by lowering surface tension at the air-liquid interface in the alveoli of lung. SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Surfactant is composed of phospholipids and other surfactant-associated proteins (Clark et al., 1995 [PubMed 7644495]). See also SFTPA1 (MIM 178630), SFTPC (MIM 178620), and SFTPD (MIM 178635).[supplied by OMIM] 1624152,1580863,4143377,4143412,4143416,4143433,4143286,4143289,4143403,4143409,4143410,4143423,4143429,4143411,4143431,4143379,4143414,4143439,4143418,4143384,4143428,4143404,4143465,4143463,4143446,4143462,4143290,4143408,4143430,4143438,4143464,4143447,4143448,4143460,4143472,4143451,4143287,4143402,4143407,4143381,4143382,4143389,4143392,4143393,4143396,4143398,4143376,4143390,4143394,4143399,4143405,4143454,4143455 10378403,19393186,19348329,19336370,19258923,19132247,19131640,19111454,19017876,18828060,18828058,18797948,18776725,18679120,18558554,18550614,18405368,18317237,18263595,18256027,17703412,17690329,17597650,17581675,17540055,17507829,17498296,17264398,17209137,17071721,16971405,16809635,16630564,16570259,16549540,16500948,16461352,16456143,16333843,16214863,16211553,16183668,16100012,16042774,15817713,15790313,15695595,15654742,15568810,15496605,15489334,15315329,15190959,15102713,15049696,14977415,14766755,14720435,14718442,14569193,13680361,13129928,12972403,12896877,12829715,12784301,12573987,12490037,12483294,12477932,12424586,12356334,12161428,12107845,11788590,11699576,11699574,11076040,11063734,10798379,10722708,10571948,9793979,8163685,7956367,7644495,3597440,3343343,3035561,2924687,2475034,1606172,1568474,1415726,1346779,20693256,17207965,19220077,19808337,19833825,20005435,20233420,20503287,20525719 1624152,4143377,4143412,4143416,4143433,4143286,4143289,4143403,4143409,4143410,4143423,4143429,4143411,4143431,4143379,4143414,4143439,4143418,4143384,4143428,4143404,4143465,4143463,4143446,4143462,4143290,4143408,4143430,4143438,4143464,4143447,4143448,4143460,4143472,4143451,4143287,4143402,4143407,4143381,4143382,4143389,4143392,4143393,4143396,4143398,4143376,4143390,4143394,4143399,4143405,4143454,4143455 6439 BM989941,CA435153,CA439044,CR601923,DQ317589,J02761,M16764,M19097,NM_198843,NM_000542,AC012454,AF400074,CH471053,CS123915,M24461,AB439563,AB439565,AK303817,AK314947,AW204600,BC032785,BI821350,AL548140,BG482852,CA437348,NG_016967 ABC59511,AAA60212,AAA88099,AAA36628,P07988,NP_942140,NP_000533,AAK77913,EAW99487,EAW99488,EAW99489,CAJ18771,AAB59541,BAG64767,BAG37452,AAH32785,ADQ32344 Hs.512690 PSP-B|SFTB3|SFTP3|SMDP1|SP-B 18 kDa pulmonary-surfactant protein|6 kDa protein|OTTHUMP00000203252|OTTHUMP00000203253|pulmonary surfactant-associated protein B|pulmonary surfactant-associated proteolipid SPL(Phe) protein-coding 736728 SFTPC surfactant protein C The SFTPC gene encodes pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. It is produced exclusively by type II alveolar epithelial cells in the lung. Pulmonary surfactant is a lipid-rich material that prevents lung collapse by lowering surface tension at the air-liquid interface in the alveoli of lung. Surfactant is composed of phospholipids and other surfactant-associated proteins (Clark and Clark, 2005 [PubMed 15927881]). See also SFTPA1 (MIM 178630), SFTPB (MIM 178640), and SFTPD (MIM 178635).[supplied by OMIM] 1580863,1624153,4143431,4143420,4143400,4143403,4143413,4143379,4143428,4143444,4143464,4144063,4144116,4143462,4143465,4144126,4144060,4144062,4144117,4144115,4144124,4144127,4144114,4143429,4143430,4144065,4143451,4143407,4144159,4143394,4144064,4143399 3366248,17264398,17121584,17051367,17005585,16709565,16631109,16630564,16613858,16449190,16042774,15927881,15778495,15647591,15516475,15496605,15489334,15293602,15153097,15133475,15102713,15049696,15039969,14977415,14735158,14525980,13817571,13680361,12933801,12477932,12034564,11991887,11907042,11893657,11802797,11699576,11699575,11699574,11344267,11207353,8181452,7713515,5942662,3479771,19472327,19376131,19366705,19281242,19258923,19148933,18643778,18612544,18405368,18400946,18390830,18383112,18317237,18239190,18199284,18038590,17703412,17597647,17586700,3335510,2839484,2383558,2326260,1859376,20054353,20403820,19220077,19443464,19735006,19815549,19910179,20237496,20371530,20503287,20539253 1624153,4143431,4143420,4143400,4143403,4143413,4143379,4143428,4143444,4143464,4144063,4144116,4143462,4143465,4144126,4144060,4144062,4144117,4144115,4144124,4144127,4144114,4143429,4143430,4144065,4143451,4143407,4144159,4143394,4144064,4143399 6440 NM_003018,AC105206,AY337315,AY357924,CH471080,CS123922,J03890,U02948,AK058094,AK298119,AK315742,BC005913,BC105594,DB537043,DQ884411,J03517,J03553,AY090568,BM993053,BQ027183,NG_016968,NM_001172357,NM_001172410 NP_003009,AAP88034,AAQ67734,EAW63705,EAW63706,EAW63707,CAJ18780,AAC32022,AAC32023,AAB60332,BAG60401,BAG38097,AAH05913,ABI63378,AAA36634,AAA36631,P11686,NP_001165828,NP_001165881 Hs.1074 PSP-C|SFTP2|SMDP2|SP-C SP5|pulmonary surfactant apoprotein-2 SP-C|pulmonary surfactant-associated protein C|pulmonary surfactant-associated proteolipid SPL(Val) protein-coding 735702 SFTPD surfactant protein D 1580863,4143431,4143461,4143286,4143436,4143449,4143429,4143439,4143505,4143507,4143384,4143465,4143486,4143489,4143493,4143497,4143503,4144051,4143487,4143490,4143491,4143492,4143428,4143462,4143508,4143518,4143499,4143500,4143502,4143504,4143506,4143488,4143519,4143501,4143256,4143495,4143496,4143464,4144056,4143494,4143516,4143517,4143498,4143407,4143385,4143394,4143520,4143281 20601494,9751757,10485905,19493231,19439011,19378784,19348329,19340882,19336370,19287351,19286849,19275746,19258923,19249874,19140875,19017984,18991397,18990700,18983439,18811961,18785967,18779194,18676680,18657106,18498293,18359891,18355911,18347569,18302538,18266831,18251786,18226251,18211966,18191856,18092821,18052966,17999785,17874049,17848554,17703412,17693780,17567900,17524024,17264398,17209137,17083016,16889547,16834340,16709857,16636058,16514117,16426259,16406431,16361352,16114131,16061223,15951332,15700120,15661913,15608147,15489334,15274124,15244040,15173172,15164054,15145932,15123664,15102713,15067073,13680361,12888356,12853121,12753670,12730206,12654779,12654643,12479105,12477932,12244199,12218146,12218102,12032263,11967276,11916969,11912209,11854236,11278637,10820266,10542261,10368295,9777404,9153228,8889548,8428971,8424457,8406480,8226864,8006040,1932100,1898081,1400434,1339284,16227233,10101009,15711012,8630261,19913121,20628086,20799037,20683434,20560296,12884308,16385451,19164344,19170196,19478465,19540617,19577304,19590686,19625176,19684355,19692168,19799916,19833760,20056602,20075511,20086254,20205699,20207732,20211020,20228064,20237496,20448057,20453000,20457545,20503287 4143431,4143461,4143286,4143436,4143449,4143429,4143439,4143507,4143384,4143465,4143486,4143489,4143493,4143497,4143503,4144051,4143487,4143490,4143491,4143492,4143428,4143462,4143508,4143518,4143499,4143500,4143502,4143504,4143506,4143488,4143519,4143501,4143256,4143495,4143496,4143464,4144056,4143494,4143516,4143517,4143498,4143407,4143385,4143394,4143520,4143281 6441 NM_003019,AF034862,AL512662,AY216721,CH471142,L05483,L05485,BC022318,BI820265,BM985387,CR541948,X65018 NP_003010,CAI14436,AAO22991,EAW80419,EAW80420,EAW80421,AAB59450,AAH22318,CAG46746,CAA46152,P35247 Hs.253495 COLEC7|PSP-D|SFTP4|SP-D collectin 7|collectin-7|lung surfactant protein D|pulmonary surfactant apoprotein|pulmonary surfactant-associated protein D|surfactant, pulmonary-associated protein D|surfactant-associated protein, pulmonary 4 protein-coding 1347220 SFTPG surfactant associated protein G 15340161,12975309,12477932,8889549,15489334,19851445 389376 NM_205854,AL662854,AL669830,AL773541,BX927194,CH471081,CR759747,CR936875,AI857998,AY102070,AY359057,BC039677,T94049 NP_995326,CAQ09776,EAX03350,CAQ06765,CAQ10927,AAQ89416,AAH39677,Q6UW10,CAM25405,CAX12734 Hs.211267 GSGL541|SFTPG|UNQ541 surfactant associated protein G|surfactant-associated protein 2|surfactant-associated protein G protein-coding 1353854 SFTPI surfactant, pulmonary associated protein I 207111 1343041 SFTPJ surfactant, pulmonary associated protein J 207112 1318276 SFXN1 sideroflexin 1 1580863 14702039,14634051,12477932,12150972,11722557,11274051,11230166,11076863,8889548,8132490,17353931,16381901,16344560,15589833,15489336,15489334,15060089,20562859,18029348,20877624 94081 NM_022754,AC091393,CH471062,AF327346,AK022287,AK022938,AK025032,AK056915,BC020517,BC063241,BU689165,BX648188,CR599132,DA753705 NP_073591,EAW61370,EAW61371,EAW61372,EAW61373,EAW61374,EAW61375,AAL56007,BAB14003,BAB14318,BAG51825,AAH20517,AAH63241,Q9H9B4,CAL38720 Hs.369440 FLJ12876 TCC|sideroflexin-1|tricarboxylate carrier protein protein-coding 1314569 SFXN2 sideroflexin 2 16385451,19915575,15489334,14702039,12670026,12477932,20877624 118980 NM_178858,AL391121,CH471066,AF462052,AK055711,AK308246,BC022091,CR616223 NP_849189,CAI40863,EAW49675,EAW49676,EAW49677,AAM09645,BAB70993,AAH22091,Q5JSM6,Q96NB2,ABM83782,ABM87102 Hs.44070 sideroflexin-2 protein-coding 1345797 SFXN3 sideroflexin 3 1580863 16303743,14702039,12477932,17207965,18029348,20877624 81855 CR614959,NM_030971,AL133215,CH471066,CQ783611,AK074707,AK093011,AL701236,BC000124,BG698800,BG773593,BG775086,BI819328,AK299405 Q9BWM7,NP_112233,CAI10936,EAW49787,CAF86775,BAC11151,AAH00124,ADQ31902,BAG61388 Hs.283844 BA108L7.2|SFX3 OTTHUMP00000020311|sideroflexin-3 protein-coding 1314503 SFXN4 sideroflexin 4 15489334,15164054,14756423,14702039,12477932,8889548,20562859,17207965,20877624,16385451,19615732,20237496 119559 NM_213649,AL355598,AL355861,CH471066,AA401250,AF336980,AK095295,AW249181,AY269785,BC050475,BC063562,BQ009818,CB306697,CR603154,CR608481,CR610013,CR612192,CR612708,CR612933,CR621683,H12949 NP_998814,CAI14126,CAI14130,CAI14131,CAI15801,EAW49400,EAW49401,EAW49402,EAW49403,EAW49404,AAP23066,BAC04525,AAP97074,AAH63562,Q6P4A7,Q8N1Q4,ADQ32544 Hs.655168 BCRM1 breast cancer resistance marker 1|sideroflexin-4 protein-coding 1343188 SFXN5 sideroflexin 5 1580863 15815621,15489334,14702039,12477932,12150972,12039050,20877624 94097 AC012366,CH471053,AK024193,AK025170,AK094205,AK289731,AK307116,AK308863,AK309091,AK314770,AK315861,AL833454,AY044437,NM_144579,BC013233,BC018640,BC046630,BC101311,BC101312,BC101313,AK294751,AK295637 NP_653180,AAY14745,EAW99752,EAW99753,EAW99754,BAF82420,BAF98752,AAK95826,AAI01312,AAI01313,AAI01314,Q8TD22,BAG57890,BAG58510 Hs.368171 BBG-TCC|MGC120413|MGC120415 OTTHUMP00000202290|OTTHUMP00000202293|OTTHUMP00000203040|sideroflexin-5 protein-coding 1317616 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599344,1599345,1580863 8069911,7663524,7937874,18996010,18078839,16883602,15954112,15489334,15298081,12477932,11747090,10993904,10767327,10684260,9864373,9585331,9192266,9032047,8681137,8528203,8226900,7744812,7657792,21031578,20019182 1599344,1599345 6442 NM_000023,NM_001135697,NG_008889,AC015909,CH471109,AK290622,AK300710,BC025702,F25770,L34355,L35853,L46810,U08895 NP_000014,NP_001129169,EAW94634,EAW94635,BAF83311,BAH13330,AAH25702,AAA35510,AAA50461,AAC37583,AAA81637,Q16586,ABM84703 Hs.463412 50-DAG|A2|ADL|DAG2|DMDA2|LGMD2D|SCARMD1|adhalin 50 kDa dystrophin-associated glycoprotein|50DAG|50kD DAG|OTTHUMP00000221053|OTTHUMP00000221059|alpha-SG|alpha-sarcoglycan|dystroglycan-2 protein-coding 1312050 SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy. 1599343,1580863 7581448,8968749,18996010,17036316,16934466,16088906,15954112,15489334,14702039,12477932,12189167,12060343,11747090,10993904,10942431,10928275,10874299,10767327,10678176,10662809,10660328,9864373,9631401,9565988,9521867,9032047,7581449,2081733,17993586 1599343 6443 CN483961,NM_000232,NG_008891,AC093858,CH471057,U63801,Y09781,AK094731,AK289892,AK299765,BC020709,BC048972,BT019433,CA449352,CR456810,CR590718,CR594277,U29586,U31116 NP_000223,EAX05429,EAX05430,AAB46956,CAA70920,BAF82581,BAH13121,AAH20709,AAV38240,CAG33091,AAB41291,AAA87034,Q16585,Q5U0N0,Q6IBJ4,ABM84066,ABM87424,ABW03884 Hs.438953 A3b|LGMD2E|SGC 43 kDa dystrophin-associated glycoprotein|43DAG|beta-SG|beta-sarcoglycan|beta-sarcoglycan(43kD dystrophin-associated glycoprotein)|limb girdle muscular dystrophy 2E (non-linked families) protein-coding 1315366 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq] 1599341,1580863 8841194,8842738,19010793,18996010,18649358,17652892,17036316,16344560,15489334,14564412,14506720,12794684,12477932,10993904,10974018,10942431,10928275,10767327,10735275,10629222,10608889,10481911,10341878,9864373,9832045,9339364,8943294,8889549,8776597,19913121,20628086,17993586,19259135,19260139,20161521,20181037,20379614,20384457,20474083 1599341 6444 AK129889,NM_000337,NM_001128209,NM_172244,NG_008693,AC008535,AC011345,AC016577,AC025434,AC027308,CH471062,AA029970,AF010236,AI139498,AK130068,AK292794,BC008431,BC020740,BQ434817,BQ446019,BX501169,BX537948,BX642431,DA561069,U58331,X95191 NP_000328,NP_001121681,NP_758447,EAW61618,EAW61619,BAF85483,AAH20740,CAD97916,AAC50921,CAA64490,Q92629,ABM82676,ABM85855 Hs.387207,Hs.644733 35DAG|CMD1L|DAGD|MGC22567|SG-delta|SGCDP|SGD 35 kDa dystrophin-associated glycoprotein|35kD dystrophin-associated glycoprotein|delta-SG|delta-sarcoglycan|dystrophin associated glycoprotein, delta sarcoglycan|placental delta sarcoglycan protein-coding 1352882 SGCE sarcoglycan, epsilon This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with myoclonus-dystonia syndrome. Alternative splicing results in multiple transcript variants. 1580863 9405466,9475163,19117362,19066193,18852357,18702114,18651096,18581468,18362280,18355305,18349702,18205193,18175340,18162078,18098280,17898012,17702043,17702041,17394247,17394244,17296918,17230465,17200151,16534121,15728306,15679701,15627203,15390016,15368614,15193417,14978685,12975309,12853948,12821748,12707948,12634861,12620933,12477932,12444570,12402271,12325078,12060343,11528394,10993904,10554001,16169070,20372795,17993586,19147379,19441135,19896264,20298200 8910 NM_001099400,NM_003919,NM_001099401,NG_008893,AC069292,CH236949,CH471091,AB117974,AF031920,AF036364,AF516515,AJ000534,AK295021,AK298220,AK313438,AL547747,AY359042,BC021709,BI552969,CR591589,CR596310,CR597920,CR606329,CR622102 NP_001092870,NP_003910,NP_001092871,AAS07485,EAW76784,EAW76785,EAW76786,EAW76787,EAW76788,BAD21206,AAC14021,AAC04368,AAM64204,CAA04167,BAH11950,BAG60490,BAG36229,AAQ89401,AAH21709,O43556,Q6L8P0,ABM84989,ABW03640 Hs.371199 DYT11|ESG OTTHUMP00000208299|OTTHUMP00000208300|dystonia 11, myoclonic|epsilon-SG|epsilon-sarcoglycan protein-coding 1347979 SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq] 1580309,1580863 20345928,8641426,18996010,16883602,16832103,16344560,15954112,15489334,15479193,15087111,14960875,12477932,12189167,10993904,10942431,10767327,10714584,10629222,9864373,8968757,8923014,8900232,8105688,7668303,7481775,14506720,19770540,20350330,20379614 1580309 6445 U34976,NG_008759,AL157766,AL160256,AL356287,CH471075,U63395,AK290620,AK316579,BC074777,BC074778,BC109321,DA897096,NM_000231 NP_000222,CAI13924,CAI16544,CAI16053,EAX08320,EAX08321,AAD13475,BAF83309,BAG38167,AAH74777,AAH74778,AAI09322,AAC50269,Q13326 Hs.37167 A4|DAGA4|DMDA|DMDA1|LGMD2C|MAM|MGC130048|SCARMD2|SCG3|TYPE 35 kDa dystrophin-associated glycoprotein|35DAG|35kD dystrophin-associated glycoprotein|gamma sarcoglycan|gamma-SG|gamma-sarcoglycan protein-coding 1317183 SGCZ sarcoglycan zeta The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq] 19472918,17438352,15489334,12477932,12189167,18625863,20379614,20526338 137868 NM_139167,NG_008899,AC009898,AC019215,AC020992,AC021760,AC022039,AC023538,AC040926,AC084838,AC106857,AC107965,CH471080,AY028700,AY502063,BC069459,BC125037 NP_631906,EAW63843,EAW63844,AAK21962,AAR89453,AAH69459,AAI25038,Q08AT0,Q96LD1 Hs.676196 MGC149397|ZSG1 zeta-SG|zeta-sarcoglycan protein-coding 1603402 SGEF Src homology 3 domain-containing guanine nucleotide exchange factor 16344560,15133129,14702039,12477932,15221005,12697679 26084 NM_015595,AC018452,CH471052,FJ695204,AB073386,AF415175,AF415176,AK022655,AK022884,AK123040,AK127282,AL117429,AY552599,BC016628,BC078655,DA248533,DB069290 NP_056410,EAW78764,BAD38637,AAL27001,AAL27002,BAB14159,BAB14292,BAG53860,BAG54472,CAB55918,AAS59842,AAH16628,AAH78655 Hs.240845 CSGEF|DKFZp434D146|HMFN1864|SGEF OTTHUMP00000217165|OTTHUMP00000217167|Src homology 3 domain-containing guanine nucleotide exchange factor protein-coding 1346308 SGIP1 SH3-domain GRB2-like (endophilin) interacting protein 1 SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM] 737633 11256614,17975119,17626015,16710414,16381901,16344560,15919751,15489336,15489334,14702039,12477932,11230166,11076863,19023099,19713939,20379614,20421487,20946875 737633 84251 NM_032291,AL139147,AL354978,AL356913,AL391820,CH471059,AB210039,AK090697,AK125044,AL136561,BC040516,BX640813,CR622141,CR749541,DA801276,AK298970,AK299941 NP_115667,CAI21941,CAI21942,CAI21943,CAI21944,CAI21945,CAH71843,CAH71845,CAH71846,CAH71847,CAI22672,CAI22673,CAI22674,CAI22675,EAX06521,EAX06522,EAX06523,BAE06121,BAG52213,BAC86031,CAB66496,AAH40516,CAE45891,CAH18344,Q6ZV33,Q9BQI5,CAL37765,ACE87375,ACE86691,BAH12914,BAH13177 Hs.132121 DKFZp686A16142|DKFZp761D221|FLJ33378|FLJ43054 OTTHUMP00000010740|OTTHUMP00000010741|SH3-containing GRB2-like protein 3-interacting protein 1|endophilin-3-interacting protein protein-coding 731028 SGK1 serum/glucocorticoid regulated kinase 1 This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 1580863,1580967,1580968,1580969,1580970,2289157 20511718,17314099,17353931,9114008,10884438,19461886,19447520,19380724,19232516,19088452,19088076,19068477,18985156,18801914,18753299,18570873,18487207,18456663,18319604,18239069,18209482,17985234,17982255,17982254,17965184,17932503,17640988,17595519,17571248,17570343,17568772,17442044,17382906,17360471,17317952,17170520,16971495,16847254,16817852,16543730,16443776,16344560,16301825,16301823,16221215,16125969,16105029,16036218,15737648,15721303,15695387,15665527,15578212,15576372,15496163,15489334,15461589,15342340,15328345,15304560,15208094,15167446,15166308,15044175,15040001,14725621,14702039,14623317,14574404,12923071,12911626,12823993,12788082,12729930,12684516,12634932,12631736,12628440,15735679,20438709,20884880,20832730,12590200,12477932,12444200,12435876,12417559,12397388,12387817,12376324,12218062,12215463,12077559,12023960,11751930,11742982,11707620,11696533,11410590,11254654,11154281,10869359,10548550,10357815,10191262,9722955,15910284,14499622,19913121,20628086,15733869,16460280,17332896,19584721,19617352,19619128,19706464,19756449,19961832,20041238,20338997,20466724,20525693,20631247,20098747,20516150,20947508 1580967,1580968,1580969,1580970,2289157 6446 NM_001143677,NM_001143678,NM_005627,AF460178,AJ000512,AL135839,AL355881,CH471051,NM_001143676,Z84486,AF153609,AK055077,AK098509,AK293383,AK295422,AK298688,BC001263,BC013832,BP384292,BQ183142,BX649005,CR596295,DA309338,DB450096,DC428953,EU518415,FM205707,FM205708,FM205709,FM205710,Y10032 NP_001137148,NP_001137149,NP_001137150,NP_005618,AAN40971,CAA04146,CAI19718,CAI19719,CAI19720,CAI19721,CAH72579,EAW47991,EAW47992,Q8IZV4,CAI21678,AAD41091,BAG51463,BAH11497,BAH12061,BAH12848,AAH01263,CAH10381,ACD35864,CAR58095,CAR58096,CAR58097,CAR58098,CAA71138,O00141,Q6AW81,EAW47993 Hs.510078 SGK serine/threonine protein kinase SGK|serine/threonine-protein kinase Sgk1|serum/glucocorticoid-regulated kinase 1 protein-coding 1602085 SGK196 protein kinase-like protein SgK196 16344560,15761153,15489334,14702039,12477932 84197 NM_032237,AC113191,CH471080,BC101548,BC113703,DA383787 NP_115613,EAW63187,AAI01549,AAI13704,Q9H5K3 Hs.491646 FLJ23356|MGC126597 Sugen kinase 196|protein kinase-like protein SgK196 protein-coding 1347154 SGK2 serum/glucocorticoid regulated kinase 2 This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Two alternate transcripts encoding two different isoforms have been described. [provided by RefSeq] 1580863 20511718,15203218,16344560,12397388,10548550,12632189,15790807,15578212,15489334,12634932,12477932,11780052,11707620,16460280 10110 Z98752,AF169034,AF186470,AK289596,AK308502,AY987010,BC006523,BC014037,BC065511,BG420383,BT020098,CD627734,DA244897,DB183229,DC385330,NM_001199264,NM_170693,NM_016276,CH471077,CR613964,CR625759 EAW75956,CAC18509,CAI42312,CAI42313,CAI42315,AAF12757,AAG17012,BAF82285,AAX88805,AAH14037,AAH65511,AAV38901,EAW75955,NP_001186193,NP_733794,NP_057360,Q5H8Y5,Q9HBY8 Hs.300863 H-SGK2|dJ138B7.2 OTTHUMP00000031705|OTTHUMP00000031706|OTTHUMP00000031707|serine/threonine-protein kinase Sgk2|serum/glucocorticoid-regulated kinase 2 protein-coding 1354188 SGK3 serum/glucocorticoid regulated kinase family, member 3 This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 10548550,19293151,17167223,16888620,16790420,16543730,16485113,16341674,16036218,15737648,15578212,15496163,15489334,14604990,12634932,12632189,12590200,12477932,12397388,12218062,12054501,11884598,11751930,11749387,11707620,11514587,11035810,10585774,9373149,8125298,20511718,20687898,16460280 23678 NM_013257,NM_170709,AC011031,AC090154,CH471068,CQ783554,AF085233,AF169035,AI127772,AK074666,AK223523,AK291428,AV714643,NM_001033578,BC015326,BF665552,BI547053,BM739201,BX649057,CB995805,CR536581,CR933673,HH961744 NP_001028750,NP_037389,NP_733827,EAW86919,EAW86920,CAF86721,AAF27051,AAF12758,BAG51984,BAD97243,BAF84117,AAH15326,CAG38818,CAI45969,Q53EW6,Q5H9Q5,Q6FHV7,Q96BR1,CBX51345 Hs.613417 CISK|DKFZp781N0293|SGK2|SGKL cytokine-independent survival kinase|serine/threonine-protein kinase Sgk3|serum/glucocorticoid regulated kinase 3|serum/glucocorticoid regulated kinase-like|serum/glucocorticoid-regulated kinase 3|serum/glucocorticoid-regulated kinase-like protein-coding 1605897 SGK493 protein kinase-like protein SgK493 19097194,19465597,19961619,20379614,16344560,16341674,15489334,12477932,12471243,8889548 91461 NM_138370,AC013480,CH471053,AK311155,BC007901,BC062988,BC094697,BC110513,BC110514,BM738316,BQ013425,CF131963,CR598769,CR600688,DB231841,DB457034 NP_612379,EAX00325,EAX00326,AAH07901,AAH62988,AAH94697,AAI10514,AAI10515,Q504Y2 Hs.408542 FLJ18197|MGC125960|SGK493|Vlk protein kinase domain-containing protein, cytoplasmic|protein kinase-like protein SgK493|sugen kinase 493|vertebrate lonesome kinase protein-coding 1345170 SGM1 segmentation syndrome 1 6438 1352309 SGMS1 sphingomyelin synthase 1 The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq] 737633,1580863,1302423 14685263,14976195,19506037,19001565,18694848,18370930,17982138,17616479,17467659,17449912,16713569,16508036,15489334,15315829,12477932,11841947,10544266,16385451,18820264,19779494,20379614,16341674 737633,1302423 259230 AC069547,AL117341,AL596137,CH471142,AB154421,AK026683,AK296233,AK311737,AY280959,AY312431,AY332650,AY364088,BC042899,NM_147156,BM141853,BM764008,BN000143,CR603488,FM210200,Y14155,FN870365,FN908045,FN908146,FR686760 NP_671512,EAW80429,EAW80430,EAW80431,EAW80432,BAD16809,BAG58954,AAP37279,AAQ82051,AAQ22363,AAR13294,AAH42899,CAD79708,CAR65042,Q86VZ5,CBM41470,CBM42040,CBM43071,CBW52777 Hs.654698 MGC17342|MOB|MOB1|SMS1|TMEM23|hmob33 medulla oblongata-derived protein|phosphatidylcholine:ceramide cholinephosphotransferase 1|protein Mob|transmembrane protein 23 protein-coding 1605563 SGMS2 sphingomyelin synthase 2 Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined. 14685263,19286635,19233134,19001565,18694848,18566297,18370930,17982138,17616479,17449912,16344560,15489334,12477932,19454763,20332099 166929 NM_152621,NM_001136257,NM_001136258,AC096564,CH471057,AF452717,AK290344,AK314049,AL833599,BC028705,BC041369,BX649142,DB048409,DC417367 NP_689834,NP_001129729,NP_001129730,EAX06211,EAX06212,EAX06213,AAP13352,BAF83033,BAG36758,AAH28705,AAH41369,Q8NHU3 Hs.595423 MGC26963|SMS2 SM synthase|phosphatidylcholine:ceramide cholinephosphotransferase 2 protein-coding 1344948 SGOL1 shugoshin-like 1 (S. pombe) 737633 16344560,15489334,12747765,12477932,17322402,16541024,16582621,16682347,19465021,19716788,20379614,20384790,16541025,18084284,19015261,18716626,18635744,18331714,17621308,17617734,17448445,16628005,16580887,16112668,15737064,15723797,15604152,20739936,14702039 737633 151648 BG530826,DB163747,NM_001199251,NM_001199252,NM_001199253,NM_001199254,NM_001199255,NM_001199256,NM_001199257,NM_001012410,NM_001012412,NM_001012413,NM_001012409,NM_001012411,AC099057,CH471055,AB187577,AB187578,NM_138484,AB187580,AB187581,AB187582,AB190994,AB193056,AB193057,AB193058,AB193059,AB193060,AB193061,AB193062,AB193063,AB193064,AB193065,AB193066,AB451340,AB451489,AB187579,AF308299,AK308095,BC001339,BC017867,BC032696,BC039605,BX648516,AK024292 NP_001186180,NP_001186181,NP_001186182,NP_001186183,NP_001186184,NP_001186185,NP_001186186,NP_612493,NP_001012410,NP_001012412,NP_001012413,NP_001012409,NP_001012411,EAW64307,EAW64308,EAW64309,EAW64310,BAD89587,BAD89588,BAD89589,BAD89590,BAD89591,BAD89592,BAD91318,BAD95529,BAD95530,BAD95531,BAD95532,BAD95533,BAD95534,BAD95535,BAD95536,BAD95537,BAD95538,BAD95539,BAG70154,BAG70303,AAG48266,AAH01339,AAH17867,AAH32696,Q5FBB7 Hs.105153 FLJ14230|NY-BR-85|SGO|Sgo1 OTTHUMP00000207982|OTTHUMP00000208163|OTTHUMP00000208164|OTTHUMP00000208167|OTTHUMP00000208172|OTTHUMP00000208174|hSgo1|serologically defined breast cancer antigen NY-BR-85|shugoshin 1AB protein|shugoshin 1CD protein|shugoshin 1EF protein|shugoshin 1GH protein|shugoshin 1KL protein|shugoshin-like 1 protein-coding 1318224 SGOL2 shugoshin-like 2 (S. pombe) 19898482,20739936,20889715,16541025,17353931,18084284,17485487,16565220,16381901,16344560,15815621,15489336,15489334,14702039,12477932,11230166,11076863,18029348 151246 NM_152524,NM_001160033,NM_001160046,AC012459,AC080164,CH471063,AK057940,AK095291,AK302457,AY094614,BC004567,BC035764,BC048349,BC092412,BC110583,BX647433,DB369428 NP_689737,NP_001153505,NP_001153518,AAY24310,AAY24264,EAW70207,BAB71617,BAC04524,BAH13715,AAM21971,AAH35764,AAH48349,AAH92412,Q562F6,CAL37460,CAL37862 Hs.655182 FLJ25211|MGC129665|SGO2|TRIPIN shugoshin-2|shugoshin-like 2 protein-coding 1347742 SGPL1 sphingosine-1-phosphate lyase 1 20519401,11018465,14570870,19119317,18172856,17373700,17090686,16777052,15489334,15342556,14702039,12477932,10574462,9464245,2061324,16385451,18029348 8879 NM_003901,AC073176,CH471083,AB033078,AF144638,AJ011304,AK023873,AK308610,AK314615,BC031338,BC041567,BC051238,BC052991,BC068061,BP314104,CS479821 NP_003892,EAW54414,BAA86566,AAD44755,CAA09590,BAG37181,AAH52991,O95470,CAM35395 Hs.499984 FLJ13811|KIAA1252|SPL SP-lyase 1|SPL 1|hSPL|sphingosine-1-phosphate aldolase|sphingosine-1-phosphate lyase 1 protein-coding 1343984 SGPP1 sphingosine-1-phosphate phosphatase 1 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM] 1580863 17895250,17081983,16782891,15489334,15180992,12815058,12508121,12477932,12411432,10859351,11069896,19798445 81537 NM_030791,AL161670,CH471061,AF349315,AJ293294,AK314188,BC063839,BC070060 NP_110418,EAW80834,AAK26660,CAC17772,BAG36867,AAH63839,AAH70060,Q9BX95 Hs.24678 SPPase1 hSPP1|hSPPase1|sphingosine-1-phosphatase 1|sphingosine-1-phosphate phosphatase 1|spp1 protein-coding 1346522 SGPP2 sphingosine-1-phosphate phosphotase 2 1302442,1580863 12411432,17113265,14702039,12477932 1302442 130367 NM_152386,AC097461,AC112718,CH471063,AF542512,AK096323,AK314322,BC106904,BC106905,BC114513,BC134342 NP_689599,AAX88957,AAY24195,EAW70801,AAN28731,BAC04762,BAG36970,AAI06905,AAI06906,AAI34343,Q3B870,Q4ZFX2,Q53QF5,Q8IWX5 Hs.591604 FLJ39004|SPP2 SPPase2|hSPP2|sphingosine 1-phosphate phosphohydrolase 2|sphingosine-1-phosphatase 2|sphingosine-1-phosphate phosphatase 2|sphingosine-1-phosphate phosphotase 2 protein-coding 1345995 SGSH N-sulfoglucosamine sulfohydrolase This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq] 1580332,1580333,1580863 7493035,18407553,15902564,15489334,15146460,14702039,12754519,12702166,12477932,11793481,11668611,11343308,10727844,10521831,9744479,9700599,9554748,9405287,9401012,9373149,9285796,9158154,8946167,8125298,6796310,20237496 1580332,1580333 6448 NM_000199,NG_008229,AC087741,AC123764,CH471099,U60111,AB209900,AK095969,AK222890,AK291257,AK304706,AK309927,AW274014,BC047318,BF445930,CR623882,DC319407,U30894 NP_000190,EAW89590,EAW89591,AAB17952,BAD93137,BAG53179,BAD96610,BAF83946,BAH14242,AAH47318,AAA86530,P51688,Q53GP1,Q59EB1 Hs.31074 HSS|MPS3A|SFMD N-sulphoglucosamine sulphohydrolase|heparan sulfate sulfatase|sulfoglucosamine sulfamidase|sulphamidase protein-coding 1317805 SGSM1 small G protein signaling modulator 1 737633 19913121,20628086,19077034,17509819,12477932,11853319,8889548,20379614 737633 129049 NM_001039948,NM_133454,NM_001098497,NM_001098498,AL049759,AL050312,AP000359,AB075821,AB275761,AB449879,AK123162,AK124850,AW028652,BC036915,BC111698,BM930881 NP_001035037,NP_597711,NP_001091967,NP_001091968,CAQ08970,CAQ08971,BAB85527,BAF63511,BAH16622,Q2NKQ1 Hs.474397,Hs.620906 KIAA1941|MGC133298|RUTBC2 RUN and TBC1 domain containing 2|RUN and TBC1 domain-containing protein 2|small G protein signaling modulator 1|small G protein signaling modulator 1 protein protein-coding 1315867 SGSM2 small G protein signaling modulator 2 737633 19077034,17509819,16169070,12477932,9455477,19584346 737633 9905 NM_001098509,AC006435,AL450226,CH471108,AB007857,AB275762,AB449878,AK124883,AK125203,NM_014853,AK294955,AK304263,BC029251,BC039204,BC061895,CR590347,CR593254,CR596157 NP_055668,NP_001091979,EAW90545,EAW90546,EAW90547,BAA23693,BAF63512,BAH16621,BAC86084,BAG58030,BAG65127,AAH39204,O43147 Hs.513861 KIAA0397|RUTBC1 RUN and TBC1 domain containing 1|RUN and TBC1 domain-containing protein 1|small G protein signaling modulator 2|small G protein signaling modulator 2 protein protein-coding 1353613 SGSM3 small G protein signaling modulator 3 737633 17509819,19077034,15541357,15461802,14702039,12477932,11214971,15709751,19570815 737633 27352 AL022238,CH471095,AB196956,AB275763,AB449880,AK000006,AK295469,NM_015705,AK297599,AK301042,AK309400,AL137499,AW512418,AY308849,BC008078,BC127850,BG741967,BU585020,CR456441,CR600121,CR608559,CR608708,CR620875,CR623292,CR625240 NP_056520,CAQ08933,CAQ08934,CAQ08935,CAQ08936,EAW60378,EAW60379,EAW60380,EAW60381,BAE02561,BAF63513,BAH16623,BAA92231,BAG58399,BAG59984,BAG62655,CAB70773,AAQ81879,AAH08078,AAI27851,CAG30327,Q96HU1,Q9NXX9,CAK54470,CAK54769,ABM84197,ABM87601 Hs.474914 DKFZp761D051|MAP|RUSC3|RUTBC3 RUN and SH3 containing 3|RUN and TBC1 domain containing 3|RUN and TBC1 domain-containing protein 3|merlin binding protein|merlin-associated protein|rab-GTPase-activating protein-like protein|rabGAPLP|small G protein signaling modulator 3|small G protein signaling modulator 3 protein protein-coding 735887 SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq] 1580863 11076863,9740675,10567422,11256614,18759457,18607086,18332089,17942943,17081983,16964243,16777091,16580629,16381901,16189514,16169070,15972823,15710426,15489336,15489334,15302935,15057824,14729056,14667819,14623262,12815268,12735788,12482202,12477932,11878889,11230166,9766974,9573291,9557704,7966229,2158125,20516149,19615732,20200332 6449 NM_003021,AC006538,CH471139,AF368279,AF408399,AJ133129,AJ223828,AK293535,AL050156,BC000390,BC002989,BC005165,BC008885,BG423904,CR533517,CR542282,CR595261,CR600446,CR602218,CR603333,CR605999,CR619830 NP_003012,AAD13117,EAW69366,EAW69367,EAW69368,AAP29457,AAL01051,CAB39725,CAA11565,BAG57017,CAB43297,AAH00390,AAH02989,AAH05165,AAH08885,CAG38548,CAG47077,O43765,CAL38336 Hs.203910,Hs.727620 SGT|alphaSGT|hSGT UBP|alpha-SGT|protein containing three tetratricopeptide repeats|small glutamine-rich tetratricopeptide repeat-containing protein alpha|vpu-binding protein protein-coding 1353974 SGTB small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 737633,1580863 15489334,14702039,12477932,2158125,16189514,17207965 737633 54557 NM_019072,AC008560,AC008958,CH471137,AF075050,AF368281,AK096321,AL713334,BC012044 NP_061945,EAW51342,AAC28459,AAP29459,BAC04761,AAH12044,O75589,Q96EQ0,ADQ31912 Hs.482301 FLJ39002|SGT2 beta-SGT|small glutamine rich protein with tetratricopeptide repeats 2|small glutamine-rich protein with tetratricopeptide repeats 2|small glutamine-rich tetratricopeptide repeat-containing protein beta protein-coding 1603671 SH2B1 SH2B adaptor protein 1 This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq] 2302071 19164386,19079261,19079260,17471236,17228025,16344560,15767667,14702039,12477932,12421765,11940664,10718198,9742218,10594240,12074588,10708759,9856458,12370803,9343427,10757801,20712903,20724581,20725061,20816152,20816195,21045733,20935630,20571754,20616199,19293402,21102463,12551917,19342444,19692490,19746409,19851340,19910938,20215397,20386550 2302071 25970 AK297080,AK298569,AL049924,AL713760,BC010704,DA490578,DB026545,NM_015503,NM_001145795,NM_001145796,NM_001145797,NM_001145812,AC133550,CH471267,AB037720,AF227967,AF227968,AF227969,AK027488,AK055104,AK290332 BAG59597,BAG60762,CAB43208,CAD28530,AAH10704,Q9NRF2,NP_056318,NP_001139267,NP_001139268,NP_001139269,NP_001139284,EAW51999,EAW52000,EAW52001,EAW52002,EAW52003,EAW52004,EAW52005,BAA92537,AAF73912,AAF73913,AAF73914,BAB55148,BAG51467,BAF83021 Hs.728207 DKFZp547G1110|FLJ30542|KIAA1299|PSM|SH2B SH2 domain-containing protein 1B|SH2 domain-containing putative adapter SH2-B|SH2-B signaling protein|SH2B adapter protein 1|pro-rich, PH and SH2 domain-containing signaling mediator protein-coding 736917 SH2B2 SH2B adaptor protein 2 The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq] 1625124 19293402,10374881,9233773,9989826,16141217,15737992,15231829,12400014,12101115,11751854,10196204,9799793,18273061,9856458,10872802,11997497,15031295,15946664,20237496 1625124 10603 NM_020979,AC005088,AC091390,CH471197,AB000520,BI261466,DN995670 NP_066189,EAW50232,EAW50233,BAA22514,O14492 Hs.489448 APS SH2 and PH domain-containing adapter protein APS|SH2B adapter protein 2|adapter protein with pleckstrin homology and Src homology 2 domains|adaptor protein with pleckstrin homology and src homology 2 domains protein-coding 68607 SH2B3 SH2B adaptor protein 3 T-cell activation requires stimulation of the T-cell receptor (TCR; see MIM 186880)-CD3 (see CD3Z; MIM 186780) complex, followed by recruitment of an array of intracellular signaling proteins (e.g., GRB2 (MIM 108355) and PLCG1 (MIM 172420)). Mediating the interaction between the extracellular receptors and intracellular signaling pathways are adaptor proteins such as LAT (MIM 602354), TRIM (MIM 604962), and LNK.[supplied by OMIM] 20560212,20843259,20586186,20971364,21045733,21060863,18029348,19430483,19430479,19375649,19264985,19198610,19073967,18805825,18593762,18588518,18311140,17554300,17007883,16644735,12477932,11805142,11163396,10799879,9169414,8995445,8649391,20404132,20647273,19293402,19430480,19693089,19838195,19860791,19862010,19913121,19951419,20190752,20237496,20508602,20546165,20724988,20453842 10019 NM_005475,AC002395,AC005805,CH471054,AB208911,AF055581,AJ012793,AK025666,AK025745,AK302173,BC015786,BC136451,NG_021216,HI573956 NP_005466,EAW97955,EAW97956,BAD92148,AAC71695,CAB42642,BAH13642,AAH15786,AAI36452,Q59H48,Q96BA5,Q9UQQ2,CBX47467 Hs.506784 IDDM20|LNK SH2B adapter protein 3|lymphocyte-specific adapter protein Lnk|signal transduction protein Lnk protein-coding 1346207 SH2D1A SH2 domain protein 1A This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11054674,11034354,10852966,10549287,9811875,9771704,8387453,8361760,10607564,17643931,17620557,17455312,17171759,16983070,16344560,16223723,16002423,15772651,15738056,15711562,15677558,15661039,15489334,15378026,15356108,15320910,15315965,15195244,14726378,14707094,14674764,14523387,12951057,12928397,12766168,12594824,12545174,12477932,12458214,12356686,12152986,12115647,12008045,11815622,11806999,11803050,11493483,11489943,11477403,11477068,11389028,11313386,9774102,19570996,19150402,19079134,18951976,18832568,18662772,18587224,18479751,18212118,18051214,18031694,18024409,18000860,17922402,17692919,10089404,12621057,15096483,19759517,19859091,9856458,11282995,15722257,17289546,17785286 4068 NM_001114937,NG_007464,AL022718,CH471107,AA190204,AF072930,AF073019,AF100539,AF100540,AF100541,AF100542,AF100543,AK311645,AK311911,AL023657,BC020732,BP432686,CR542031,CR542043,DA007747,NM_002351,GM741641,HB441350,AB586694 NP_002342,NP_001108409,CAA18777,EAX11847,EAX11848,EAX11849,EAX11850,EAX11851,AAC62630,AAC62631,AAC79712,AAC79713,AAC79714,AAC79715,AAC79716,BAG34852,CAA19222,AAH20732,CAG46828,CAG46840,O60880,Q6FGS6,ABM86090,ABW03773,CAV31693,CAZ78681,BAJ19023 Hs.349094 DSHP|EBVS|FLJ18687|FLJ92177|IMD5|LYP|MTCP1|SAP|SAP/SH2D1A|XLP|XLPD Duncan disease SH2-protein|SH2 domain-containing protein 1A|SLAM associated protein/SH2 domain protein 1A|SLAM-associated protein|T cell signal transduction molecule SAP|T-cell signal transduction molecule SAP|signaling lymphocyte activation molecule-associated protein|signaling lymphocytic activation molecule-associated protein protein-coding 1606747 SH2D1B SH2 domain containing 1B By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM] 9000139,16920955,16710414,15489334,14702039,12787752,12477932,12115647,11689425,11244050 117157 NM_053282,AF020264,AL512785,CH471067,AF256653,AF403479,AF484964,AK097162,AK314743,AL709120,BC022407,BC066595 NP_444512,AAB70927,CAI15780,EAW90703,EAW90704,EAW90705,AAL26000,AAL27357,AAM28522,BAC04968,BAG37283,AAH22407,AAH66595,O14796,ABM82901,ABM86092 Hs.350581 EAT2 EAT-2|EWS/FLI1-activated transcript 2|SH2 domain-containing molecule EAT2|SH2 domain-containing protein 1B protein-coding 1345635 SH2D2A SH2 domain protein 2A 2298729,2298871,2298870,2298532,1358573,1580863 19561400,9468509,10553045,19240061,18554728,18541536,18533279,18160104,17327418,16710414,16344560,15962004,15752554,15592455,15489334,15129233,12477932,11528519,10752626,10692392,10587356,9373149,8125298,11073940,20305788,19913121,20628086,12640115 2298729,2298871,2298870,2298532,1358573 9047 NM_003975,NM_001161441,NM_001161442,NM_001161443,NM_001161444,AF106072,AL158169,AL590666,CH471121,AF051325,AF097744,AJ000553,AK222737,AK313706,AY763098,AY763099,AY763100,BC012107,BQ012931,DB128222,NG_016849 NP_003966,NP_001154913,NP_001154914,NP_001154915,NP_001154916,AAF69027,CAH70007,CAH70008,CAI16336,CAI16337,EAW52905,EAW52906,EAW52907,AAC99298,AAF43260,CAA04185,BAD96457,BAG36451,AAV34673,AAV34674,AAV34675,AAH12107,Q5UBZ1,Q5UBZ2,Q5UBZ3,Q5VZS4,Q9NP31,ACE87705,ACE87018 Hs.103527 F2771|SCAP|TSAD|VRAP SH2 domain protein 2A|SH2 domain-containing protein 2A|T cell specific adapter protein TSAd|T lymphocyte specific adaptor protein|VEGF receptor-associated protein protein-coding 1348075 SH2D3A SH2 domain containing 3A 1580863 12975309,12477932,9373149,8125298,15778465,10187783,17427198,17270363,15489334,14702039 10045 NM_005490,AC008760,AC020954,CH471139,AF124249,AK024368,AK225386,AK290293,AK292781,AK299406,AK310659,AY358406,BC006281 NP_005481,EAW69059,AAD28244,BAF82982,BAF85470,BAG61389,AAQ88772,AAH06281,Q9BRG2,ABM83676,ABM86973 Hs.439645 NSP1 SH2 domain-containing 3A|SH2 domain-containing protein 3A|novel SH2-containing protein 1 protein-coding 1316391 SH2D3C SH2 domain containing 3C 10187783,17562024,17427198,17270363,16344560,16189514,15489334,15272013,15164053,14702039,12975309,12486027,12477932,10692442,10542222,16169070,16825666,20583170 10044 AK291393,AK292041,AK292718,AK294386,AK311510,AY358440,BC027962,BC032365,BX647905,CU454732,CU455802,DA054525,DA970566,DB161948,DC302682,AY358089,NM_005489,NM_001142531,NM_001142532,NM_001142533,NM_001142534,AL162426,AL162586,CH471090,AF124251,AI799905,AJ420431,AK056068,AK096983,AK128287,NM_170600 BAF84082,BAF84730,BAF85407,BAG57643,AAQ89948,AAH27962,AAH32365,CAI46101,Q5JU30,Q5JU31,Q5JU32,Q8N5H7,NP_733745,NP_005480,NP_001136003,NP_001136004,NP_001136005,NP_001136006,CAI41176,CAI41177,CAI41178,CAI41179,CAI41182,CAI39760,CAI39761,CAI39762,CAI39763,CAI39766,EAW87695,AAD28246,BAG51614,BAG53404,AAQ88456 Hs.306412 CHAT|FLJ39664|NSP3|PRO34088 SH2 domain-containing 3C|SH2 domain-containing protein 3C|novel SH2-containing protein 3 protein-coding 1317502 SH2D4A SH2 domain containing 4A 1580863 20936779,16189514,17353931,18029348,18641339,17081983,16964243,15489334,15302935,14702039,12477932,12476414,9373149,8125298,16344560,19060904,19712589,20379614 63898 NM_022071,AC068880,CH471080,AK024620,AK024799,AK225052,AK293301,AY190323,BC014525,BC067117,BC082982,CA418381,DA952240,NM_001174159,NM_001174160 NP_071354,EAW63773,BAB14935,BAB15010,BAG56822,AAO41715,AAH14525,AAH67117,AAH82982,Q9H788,NP_001167630,NP_001167631 Hs.303208 FLJ20967|SH2A SH2 domain-containing protein 4A|protein SH(2)A protein-coding 1323129 SH2D4B SH2 domain containing 4B 14702039,20379614 387694 NM_207372,NM_001145719,AC021028,AL731544,AK091518,AK123885,AK123978 BAC85741,Q5SQS7,NP_997255,NP_001139191,CAI14996,CAI14997,CAI14998,BAC85715 Hs.147643 FLJ41984 SH2 domain-containing protein 4B|novel SH2 domain-containing protein protein-coding 1602949 SH2D5 SH2 domain containing 5 16710414,14702039,20379614 400745 NM_001103160,NM_001103161,AL663074,CH471134,AK123236,AK123841,AK124869,AK296431,DC382086 NP_001096630,NP_001096631,CAI23391,CAI23392,EAW94947,EAW94949,BAC85974,BAH12349,Q6ZV89 Hs.591522 FLJ41242|FLJ41847|FLJ42879 OTTHUMP00000002715|SH2 domain-containing protein 5 protein-coding 1606407 SH2D6 SH2 domain containing 6 18464913,14702039,12477932 284948 NM_198482,AC016753,AF450483,AK093312,AY517502,BC110073 NP_940884,AAP97677,BAG52686,AAR98781,AAI10074,Q2YDT5,Q7Z4S9 Hs.209542 FLJ35993 SH2 domain-containing protein 6 protein-coding 2923266 SH2D7 SH2 domain containing 7 11181995,16572171 646892 AC090260,CH471136,NM_001101404 A6NKC9,EAW99187,NP_001094874 Hs.569511 OTTHUMP00000205438|Putative SH2 domain-containing protein LOC646892|SH2 domain protein-like|SH2 domain-containing protein 7|hCG38941 protein-coding 1346069 SH3BGR SH3 domain binding glutamic acid-rich protein 1580863 20532202,9050928,16780588,15489334,14767758,12477932,12358155,10830953,8889548 6450 NM_007341,AF121781,AF121897,AL163279,AL163280,CH471079,AI338732,BC006371,BM474020,BM697281,BT006994,X93498,NM_001001713 NP_001001713,NP_031367,AAD12067,CAB90456,CAB90445,EAX09637,EAX09638,EAX09639,EAX09640,AAH06371,AAP35640,CAB57259,P55822,Q53Y47,ACT64582,ACT64583 Hs.473847 21-GARP 21-glutamic acid-rich protein|OTTHUMP00000109177|OTTHUMP00000207539|OTTHUMP00000207540|OTTHUMP00000210782|SH3 domain-binding glutamic acid-rich protein|SH3-binding domain and glutamic acid-rich protein protein-coding 1352415 SH3BGRL SH3 domain binding glutamic acid-rich protein like 1580863 11230166,9642120,16130169,16344560,16186799,16080146,15772651,15489334,15146197,12477932,8589991,1602151,16729043,20532202 6451 CR591928,CR593159,CR595122,CR599092,CR599935,CR606366,CR615098,CR615275,CR620035,DA487377,NM_003022,AL357115,CH471104,AF042081,AK024892,AK129610,AK309350,AK309351,AK309352,AK310011,AK310155,AK315897,AL136718,BC016709,BC103762,CN272007,CR533478,CR590536 O75368,NP_003013,CAI39436,EAW98579,EAW98580,EAW98581,AAC27445,BAF98788,CAB66652,AAH16709,AAI03763,CAG38509 Hs.108029 MGC117402|SH3BGR SH3 domain-binding glutamic acid-rich-like protein|SH3-binding domain glutamic acid-rich protein like protein-coding 1314135 SH3BGRL2 SH3 domain binding glutamic acid-rich protein like 2 1580863 14574404,12477932,12095696,9110174,8619474,20522523 83699 NM_031469,AL451064,CH471051,AF131754,AF340151,AJ297972,AK074506,AK307145,AK311757,BC040489,BC052987,BC060799,BC070059,BC109043,BC109044,AL035700 NP_113657,CAB55867,CAH70932,EAW48703,AAK37526,CAC35771,BAG34700,AAH40489,AAH52987,AAH60799,AAH70059,AAI09044,AAI09045,Q9UJC5 Hs.727614 FLJ90025 SH3 domain-binding glutamic acid-rich-like protein 2|fovea-associated SH3 domain-binding protein protein-coding 1317706 SH3BGRL3 SH3 domain binding glutamic acid-rich protein like 3 1580863 15907482,15489334,12477932,11444877,11344125,11211881,11137621,10554026,18029348,16729043 83442 NM_031286,AL451139,CH471059,AF247790,AF304163,AF466367,AJ297915,AK024884,BC030135,CR593489,CR612702,DB482618 NP_112576,CAI15826,CAI15827,EAX07831,EAX07832,AAL95695,AAG41412,AAO33388,CAC35770,AAH30135,Q86Z22,Q9H299,ABM84303,ABM87697 Hs.109051 SH3BP-1|TIP-B1 SH3 domain-binding glutamic acid-rich-like protein 3|SH3 domain-binding protein 1|SH3BGRL3-like protein|TNF inhibitory protein protein-coding 1314801 SH3BP1 SH3-domain binding protein 1 1580863 12029088,15489334,15461802,14702039,12477932,10591208,1379745,10764144,10508610,9548756,8438166 23616 NM_018957,CH471095,Z83844,AK124370,AK126556,AK301163,AL157480,AW452539,AY364241,BC008282,CR456576,CR593618,CR594688 NP_061830,EAW60171,EAW60172,EAW60173,EAW60174,CAI20370,BAC85842,BAC86592,BAH13419,CAB75671,AAQ76800,AAH08282,CAG30462,Q3ZTT7,Q6ZTJ5,Q9H752,Q9Y3L3,CAK54606,CAK54905,ABM83584,ABM86824 Hs.601143 ARHGAP43 3BP-1|OTTHUMP00000198187|SH3 domain binding protein 1|SH3 domain-binding protein 1 protein-coding 1321583 SH3BP2 SH3-domain binding protein 2 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599339,1580863 14577811,12900899,12709437,12501243,12477932,12200378,11390470,11381256,10409713,10364528,10364527,9846481,9734812,9373149,8438166,8125298,9299232,19017279,18596838,18479751,17544554,17321449,17306257,17156730,17147794,16802602,16713042,16177062,15751964,15489334,15345594,15117958,14759258,14757747,20872577,20002873,16169070,19833725,20237496,20379614 1599339 6452 NM_001122681,NM_003023,NG_011609,NM_001145855,NM_001145856,AL121750,CH471131,CQ834812,AB000462,AB000463,AF000936,AK124073,AK126537,AK225497,AK299996,AK304752,AK307106,AK312286,BC022996,CR619042,DC391267,U56386 NP_001116153,NP_003014,NP_001139327,NP_001139328,EAW82506,EAW82507,EAW82508,EAW82509,EAW82510,EAW82511,EAW82512,EAW82513,CAH05621,BAA19119,BAA19120,AAB59973,BAC85767,BAC86582,BAG61816,BAH14252,BAG35213,AAH22996,AAB72034,P78314,Q6ZTK4,Q6ZVU3 Hs.167679 3BP2|CRBM|CRPM|FLJ42079|FLJ54978|RES4-23 3BP-2|Abl-SH3 binding protein 2|OTTHUMP00000219024|OTTHUMP00000219026|SH3 domain-binding protein 2|TNFAIP3 interacting protein 2 protein-coding 731485 SH3BP4 SH3-domain binding protein 4 This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq] 724635 10644451,16964243,16325581,15815621,15616480,15489334,15324660,12477932,9303539,7568168,15778465,18654987,17353931,20379614,20595579,20936779 724635 23677 NM_014521,AC010148,AC114814,CH471063,AF015043,AF147747,AK291209,AK304398,BC057396,BX647198,BX648877,DQ232895 NP_055336,AAY14916,AAY24025,EAW71076,EAW71077,AAD01551,AAF33022,BAF83898,BAG65233,AAH57396,ABB18377,Q9P0V3 Hs.516777 BOG25|TTP EH-binding protein 10|SH3 domain-binding protein 4|transferrin receptor trafficking protein|transferrin receptor-trafficking protein protein-coding 733305 SH3BP5 SH3-domain binding protein 5 (BTK-associated) 1580863 9571151,10339589,16964243,15506969,15489334,15158451,15146197,14702039,12477932,12167088,10702676 9467 NM_001018009,NM_004844,AC087590,CH471055,AA843106,AB005047,AK090524,AK313167,AL117422,AW673562,BC006169,BC010123,BC023195,BG475051,BX114836,BX641159,CN402267,CR592833,CR601004 NP_001018009,NP_004835,EAW64225,EAW64226,EAW64227,EAW64228,BAA25922,BAG52178,BAG35985,CAI46220,AAH10123,CAE46071,O60239,Q6MZG3,ABM83801,ABW03526 Hs.726063,Hs.257761 SAB OTTHUMP00000208289|OTTHUMP00000208291|OTTHUMP00000208294|SH3 binding protein|SH3 domain-binding protein 5|SH3 domain-binding protein that preferentially associates with BTK|SH3BP-5 protein-coding 1606500 SH3BP5L SH3-binding domain protein 5-like 20936779,16189514,14702039,12975309,12477932,11230166,11214970,15324660 80851 NM_030645,AL732583,CH471257,AB051507,AK056345,AK056382,AK091164,AK125138,AK125837,AK298698,AK299713,AL136569,AY358453,BC010871,BC011962,BC017254,CR606601,CR613756,CR624935 NP_085148,CAI18798,EAW57534,EAW57535,EAW57536,BAB21811,BAB71158,BAB71171,BAG60856,BAG61613,CAB66504,AAQ88818,AAH10871,AAH11962,AAH17254,Q7L8J4,Q96ET3,Q96MW4 Hs.298573 FLJ33845|KIAA1720 SH3 domain-binding protein 5-like|SH3BP-5-like protein-coding 1605862 SH3D19 SH3 domain containing 19 17672918,16858696,16344560,16341674,15280379,14702039,14551139,12477932,12107413,8889548,12615363,11031247,11252894,17116749,18029348,20936779 152503 NM_001009555,NM_001128923,NM_001128924,AC095055,CH471056,AK092528,AK128493,AK291025,AL133047,AW263019,BC010110,BC032404,BC032468,BC045742,BC108890,BC108891,BC085613,BC108892,BC108893,BM670337,BM831166,BX647422,CD675494,CR593109,DB277036,DB278138,EU093086,EU093087,AK294476 NP_001009555,NP_001122395,NP_001122396,EAX04986,EAX04987,BAG52566,BAG54685,BAF83714,CAB61374,AAH10110,AAH32468,AAH45742,AAH85613,AAI08891,AAI08892,AAI08893,AAI08894,CAI46052,Q5HYK7,Q6PJX8,BAH11782 Hs.567725 EBP|EVE1|Kryn|MGC105136|MGC118910|MGC118911|MGC118912|MGC118913|SH3P19 ADAM binding protein Eve-1|ADAM-binding protein Eve-1|EEN binding protein|EEN-binding protein|OTTHUMP00000205640|OTTHUMP00000220254|SH3 domain protein D19|SH3 domain-containing protein 19 protein-coding 1604508 SH3D20 SH3 domain containing 20 20070850,12477932 201175 NM_174919,AC091132,AC217778,CH471178,AF258593,AK290650,BC067345 NP_777579,EAW51527,AAG23796,BAF83339,AAH67345,Q6ZUM4 Hs.205326 ARHGAP27|PP905|SH3P20 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1|PP905|rho GTPase-activating protein 27|rho-type GTPase-activating protein 27 protein-coding 1351797 SH3GL1 SH3-domain GRB2-like 1 16169070,9169142,16115810,15944398,15752756,15489334,15214844,15077184,14702039,14551139,12477932,12034747,10816441,10764144,10542231,9238017,9122235,11894096,16189514,16990610,19060904 6455 CR542087,CR591966,CR592875,CR593755,CR597141,CR602738,CR613203,CR618121,CR622297,U65999,X99656,NG_028084,NM_003025,AC007292,AC011498,AF190465,CH471139,AK097616,AK299166,AK315450,AY364240,BC000089,BC001094,BC001270,BC014387,BC098565,BU838380,CK820395,NM_001199943,NM_001199944 AAH98565,CAG46884,AAB86800,CAA67970,Q6FGM0,Q99961,Q9BVL7,Q9BWP4,Q9UQD4,ABM82184,ABM85370,NP_003016,AAD24591,AAF04290,EAW69227,EAW69228,EAW69229,BAG61213,BAG37838,AAQ76799,AAH00089,AAH01094,AAH01270,AAH14387,NP_001186872,NP_001186873 Hs.97616 CNSA1|EEN|MGC111371|SH3D2B|SH3P8 EEN fusion partner of MLL|SH3 domain GRB2-like 1|SH3 domain protein 2B|SH3 domain-containing GRB2-like protein 1|SH3-containing Grb-2-like 1 protein|SH3-containing protein EEN|endophilin-2|endophilin-A2|extra 11-19 leukemia fusion|extra eleven-nineteen leukemia fusion|extra eleven-nineteen leukemia fusion gene protein|fusion partner of MLL protein-coding 1343139 SH3GL2 SH3-domain GRB2-like 2 1580863 20512084,12456676,10535961,10531379,9341169,9315708,9238017,9122235,15919751,20944657,10542231,16115810,9169142,10567358,11894095,12218189,15962011,11157096,19165527,19010793,18602463,18239974,17081983,16713569,16606361,16169070,15164053,14684745,12477932,12177062,12127567,12034747,11894096,11877424,11384986,11292345,10816441,10764144,11031247,11252894,16374509,19679847,19734545,20379614,9651214,20445134 6456 NM_003026,AL133214,AL139115,CH471071,AB206840,AF036268,AK057744,AK293546,AK293592,AK302273,AK312400,BC032825,BT019682,BX538074,CR542086,CR542102,CR601861,DC309737,X99657 NP_003017,CAH70742,CAB92765,EAW58661,EAW58662,EAW58663,BAE44459,AAC04764,BAH11530,BAH11542,BAH13663,BAG35315,AAH32825,AAV38488,CAD97999,CAG46883,CAG46899,CAA67971,Q3V639,Q7Z376,Q8IZ09,Q99962 Hs.75149 CNSA2|EEN-B1|FLJ20276|FLJ25015|SH3D2A|SH3P4 Endophilin A1 BAR domain|SH3 domain protein 2A|SH3 domain-containing GRB2-like protein 2|bA335L15.1 (SH3-domain GRB2-like 2)|endophilin-1|endophilin-A1 protein-coding 731323 SH3GL3 SH3-domain GRB2-like 3 1580863 16115810,9169142,19308258,19266077,18391951,18391950,16713569,16169070,15919751,15383276,15342556,14551139,12477932,12477732,12177062,12135478,12034747,11894096,10816441,10764144,10542231,10535961,9809064,9238017,9122235,20546612,18602463,19807924,20397748,20531441 6457 NM_003027,NR_026799,AC025483,AC087738,AC090083,CH471188,AF036269,AF036270,AF036271,AF036272,AK307442,AK309086,AL109775,BC035598,BC042864,BP228213,X99664 NP_003018,EAW62419,EAW62420,EAW62421,EAW62422,EAW62423,AAC04765,AAC04766,AAC04767,AAC04768,CAB52431,AAH42864,CAA67978,Q8IVP1,Q99963,Q9UMB8 Hs.270055,Hs.666365 CNSA3|EEN-2B-L3|EEN-B2|HsT19371|SH3D2C|SH3P13 SH3 domain protein 2C|SH3 domain-containing GRB2-like protein 3|endophilin-3|endophilin-A3 protein-coding 1312539 SH3GLB1 SH3-domain GRB2-like endophilin B1 18824435,18752120,18474606,16916719,16763557,16710414,16227588,15489334,15452144,14704270,14702039,12477932,12456676,11259440,10810093,10531379,9455484,9373149,8125298,11384986,11431473,18833585,15978591,16696976,18029348,19805544,20159967,11161816,19132989,19125733,19074440,11894096,20643123,20562859 51100 NM_016009,AL049597,CH471097,AB007960,AF151819,AF257318,AF263293,AF350371,AK001954,AK225864,AK303710,BC007455,CR591663,CR600351,CR617496,DB451777 NP_057093,CAC10394,CAC10395,EAW73181,EAW73182,BAD88797,AAD34056,AAF81225,AAF73017,AAK27365,BAA91999,BAG64694,AAH07455,Q9Y371,ABM83955,ABM87272 Hs.136309 Bif-1|CGI-61|KIAA0491|dJ612B15.2 Bax-interacting factor 1|SH3 domain-containing GRB2-like protein B1|SH3-containing protein SH3GLB1|endophilin B1|endophilin-B1 protein-coding 1314186 SH3GLB2 SH3-domain GRB2-like endophilin B2 1580863 20562859,12477932,11347906,11894096,11894095,16518874,11161816,18303116,16189514,15498874,15489334,15164053,14559993,18029348,20379614 56904 NM_020145,AL592211,CH471090,AB058751,AF257319,AF258589,AF370426,AF370433,AL832592,BC005843,BC008029,BC014635 NP_064530,CAI12365,CAI12366,CAX15002,CAX15003,EAW87854,EAW87855,EAW87856,EAW87857,EAW87858,EAW87859,EAW87860,BAB47477,AAF81226,AAG23792,AAQ15262,AAQ15269,AAH14635,Q71RA6,Q71RB2,Q9NR46,ACE87602,ACE86915 Hs.460238 KIAA1848|PP6569|PP9455 OTTHUMP00000022320|OTTHUMP00000206382|OTTHUMP00000206383|SH3 domain-containing GRB2-like protein B2|SH3-containing protein SH3GLB2|endophilin-B2 protein-coding 1345626 SH3GLP1 SH3-domain GRB2-like pseudogene 1 9169142 6458 AC090616,X99658,X99659,NG_026242,NR_033412 Hs.672460 CNSA-P1|SH3GLP1 pseudo 1349582 SH3GLP2 SH3-domain GRB2-like pseudogene 2 19291764,9169142 6459 AC005562,X99660,X99661,NR_033420,NG_026239 Hs.684860,Hs.684861 CNSA-P2|SH3GLP2 pseudo 1352293 SH3GLP3 SH3-domain GRB2-like pseudogene 3 9169142 727736 NG_011727,AC005332,X99662,X99663 Hs.647405 CNSA-P3|SH3GLP3 pseudo 732890 SH3KBP1 SH3-domain kinase binding protein 1 CBL (MIM 165360) constitutively interacts with SH3 domain-containing proteins and, upon tyrosine phosphorylation, with SH2 domain-containing proteins. The SH3KBP1 gene encodes an 85-kD CBL-interacting protein that enhances tumor necrosis factor (MIM 191160)-mediated apoptotic cell death (Narita et al., 2001 [PubMed 11474197]).[supplied by OMIM] 1580863 20457601,17306257,17255943,17081983,16895919,16751601,16678097,16256071,16228008,16223483,16177060,16083285,15824310,15761153,15719014,15707590,15489334,15456872,15147912,15144186,15090612,14596919,12946264,12829691,12771190,12734385,12690097,12618476,12477932,12177062,12135478,11894096,11474197,11152963,11071869,10921882,10858458,9857189,9507006,8889549,7566098,17606992,12029088,17474147,10679202,11894095,12218189,15962011,18029348,16407834,19268472,19166927,18680311,18266907,18048363,17823309,17675467,20216986,15107835,20221403,12874286,15342556,15557335,20130058 30011 CH471074,BC015806,NM_001024666,AL732325,AL732327,AL732409,AL732423,AL772197,NM_031892,CS300518,AF230904,AF329267,AF329268,AF542051,AK293234,AK293237,AK300189,AK307276,AK313308,AY423734,AY542305,BC041055,BC050663,DC409010,DR000949,BP224209,DC359739,NG_021367,NM_001184960 NP_114098,NP_001019837,CAI41253,CAI41254,CAI40510,CAI40511,CAI40512,CAI40513,CAI40514,CAI40515,CAI40276,CAI40277,CAI40278,CAI40280,CAH71710,EAW98964,EAW98965,EAW98966,EAW98967,CAK32182,AAF37854,AAK95587,AAO13348,AAN77231,BAH11470,BAH11471,BAH13234,BAG36113,AAS00497,AAT08174,AAH15806,AAH50663,Q5JPT1,Q5JPT3,Q5JPT5,Q5JPT6,Q96B97,ABM83313,ABM86526,CAI40509,NP_001171889 Hs.726365 CD2BP3|CIN85|GIG10|HSB-1|HSB1|MIG18 CD2-binding protein 3|OTTHUMP00000023025|OTTHUMP00000023028|SH3 domain-containing kinase-binding protein 1|Src family kinase-binding protein 1|c-Cbl-interacting protein|cbl-interacting protein of 85 kDa|human Src family kinase-binding protein 1|migration-inducing gene 18|src-related kinase binding protein-1 protein-coding 1322510 SH3PXD2A SH3 and PX domains 2A 19540230,17440933,15710903,15710328,15164054,15146197,14702039,12615925,9687503,9455477,20562859,16374509,19464300,19755710,19807924,19837132,20379614,18417249 9644 NM_014631,AL121929,AL133355,CH471066,AB007878,AK025783,AK056469,AK096575,AK123570,AL833070,BX647371,CN307901,CR608729,AK294454,AK294736,AK295314,AK295660,AK302015,AK304828,AK315983 NP_055446,CAI13961,CAI13962,CAI13963,CAI15351,CAI15352,EAW49622,EAW49623,EAW49624,EAW49625,BAA24848,BAG51723,CAD89969,Q5TCZ1,Q86T68,AAI46310,AAI56573,BAH11772,BAH11864,BAH12031,BAH12146,BAH13608,BAH14262,BAH14354 Hs.594708 FISH|SH3MD1|TSK5 OTTHUMP00000020421|SH3 and PX domain-containing protein 2A|SH3 multiple domains 1|SH3 multiple domains protein 1|adapter protein TKS5|adaptor protein TKS5|five SH3 domain-containing protein|five SH3 domains|sh3 multiple domains 1|tyrosine kinase substrate with five SH3 domains protein-coding 1349978 SH3PXD2B SH3 and PX domains 2B 737633 19228371,18959745,14702039,12477932,11181995,10718198,19144821,20137777,20379614 737633 285590 NM_001017995,AC008671,AC011407,AC090064,CH471062,AB037716,AB430862,AK000838,AK095834,AK128871,BC016513,BC038561,BC065230,BC110316,CA308160,DQ109556,NG_027746 NP_001017995,EAW61431,EAW61432,EAW61433,EAW61434,EAW61435,BAA92533,BAG81977,BAA91395,AAZ99795,A1X283,Q9NWI5,AAI56243,AAI57117 Hs.285666 FAD49|FLJ20831|FTHS|HOFI|KIAA1295|TKS4|TSK4 SH3 and PX domain-containing protein 2B|adapter protein HOFI|adaptor protein HOFI|factor for adipocyte differentiation 49|kiaa1295|tyrosine kinase substrate with four SH3 domains protein-coding 1348094 SH3RF1 SH3 domain containing ring finger 1 This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq] 1302763,1580863 20936779,16230351,16374509,19393081,19710010,20379614,17535800,16344560,15659549,14702039,14504284,12477932,12421765,10819331,9482736,20974134 1302763 57630 NM_020870,AC021151,AC096741,AC104783,CH471056,AB040927,AK021429,AK025255,AK026726,BC033203,BC041023,BC053671,DA292937 NP_065921,EAX04792,EAX04793,EAX04794,BAA96018,BAB13822,AAH33203,AAH41023,AAH53671,Q7Z6J0 Hs.301804 FLJ21602|KIAA1494|POSH|RNF142|SH3MD2 SH3 domain-containing RING finger protein 1|SH3 multiple domains 2|SH3 multiple domains protein 2|plenty of SH3 domains|plenty of SH3s|putative E3 ubiquitin-protein ligase SH3RF1|ring finger protein 142|sh3 multiple domains 2 protein-coding 1318168 SH3RF2 SH3 domain containing ring finger 2 737633,1580863 15489334,15342556,14702039,12477932,19807924,19945436,20379614,19690564 737633 153769 NM_152550,AC005216,AC005351,AC011359,AC091887,CH471062,AK058046,AK074234,AK292576,AK302024,AL833297,BC031650,BC073914,BC125106,BC125107,BP352041 NP_689763,EAW61852,EAW61853,EAW61854,BAB71639,BAB85025,BAF85265,BAG63422,AAH31650,AAH73914,AAI25107,AAI25108,Q08AM8,Q8TEC5 Hs.443728 FLJ23654|HEPP1|MGC149788|MGC149789|MGC90410|RNF158 OTTHUMP00000223636|RING finger protein 158|SH3 domain-containing RING finger protein 2|putative E3 ubiquitin-protein ligase SH3RF2 protein-coding 1344960 SH3RF3 SH3 domain containing ring finger 3 16374509,14702039,20696164,20379614 344558 NM_001099289,AC010906,AC109344,AC133109,AC139850,AC140485,AC153804,AC233025,AK074131,AK093821,AL831825,DQ307286 NP_001092759,BAB84957,CAD38539,ABC25188,Q8TEJ3 Hs.171244,Hs.535157 FLJ00204|POSH2|SH3MD4 OTTHUMP00000203907|OTTHUMP00000203921|SH3 domain-containing RING finger protein 3|SH3 multiple domains 4|SH3 multiple domains protein 4|plenty of SH3s 2|plenty of SH3s-2 protein-coding 1313741 SH3TC1 SH3 domain and tetratricopeptide repeats 1 1580863 19240061,14702039,12477932,9373149,8125298,20379614 54436 NM_018986,AC104650,CH471131,AK000363,AK057561,AK074093,AK074402,AK093562,AK126165,AK128258,AK222865,AK310552,BC030283,BC068094,BC131785 EAW82351,NP_061859,AAY40932,EAW82347,EAW82348,EAW82349,EAW82350,EAW82352,EAW82353,BAA91112,BAB84919,BAB85071,BAG54290,BAD96585,AAH68094,AAI31786,Q53GR6,Q6NVH2,Q8TE82,Q8TEM9,Q9NXA4,AAI68362 Hs.479116 FLJ20356|FLJ32999|FLJ36243|FLJ46394 SH3 domain and tetratricopeptide repeats-containing protein 1 protein-coding 1348846 SH3TC2 SH3 domain and tetratricopeptide repeats 2 This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq] 1580863 19240061,18511281,17470135,16344560,16326826,15498874,15489334,14702039,14574644,12477932,11853319,11752282,11716477,8894708,19272779,19744956,20028792,20379614 79628 NM_024577,NG_007947,AB070621,AC011364,AC116312,AB075865,AF086088,AF370410,AK023641,AK023667,AK092408,AK124854,AK127050,AK127241,AK127248,AK127442,AK128209,AK300420,AK309932,AL832651,AY341075,BC113879,BC114486,CR595950,CR608321,DA856608 NP_078853,BAB85571,AAQ15246,BAB14631,BAG54107,BAG54431,BAG54462,BAC86899,BAG54650,BAH13280,AAR03497,AAI13880,AAI14487,Q14CC0,Q8TF17 Hs.483784 CMT4C|FLJ13605|KIAA1985|MNMN OTTHUMP00000223904|OTTHUMP00000223905|OTTHUMP00000223921|SH3 domain and tetratricopeptide repeats-containing protein 2 protein-coding 1315058 SH3YL1 SH3 domain containing, Ysc84-like 1 (S. cerevisiae) 737633 16344560,16189514,14702039,12615363,12477932,10771491,16169070,17207965 737633 26751 NM_015677,NM_001159597,AC079779,AK026507,AK026586,AK055801,AK096440,AK123829,AK292312,AL050373,BC008374,BC008375,BC013286,BC030778,BC034974,BC043234,BC043403,CK821806,CR457361,CR595739,CR603113,CR622262,CR623594,DB244375 NP_056492,NP_001153069,AAY14957,BAB15493,BAF85001,CAB43679,AAH08374,AAH08375,AAH30778,AAH34974,CAG33642,Q96HL8,ACE87092,ACE87093,ACE86416,ACE86417,ADQ32282 Hs.727600 DKFZp586F1318|FLJ39121|RAY OTTHUMP00000199903|OTTHUMP00000199904|SH3 domain-containing YSC84-like protein 1 protein-coding 734100 SHANK1 SH3 and multiple ankyrin repeat domains 1 1580863 20936779,10551867,11583995,16192279,15673434,12954649,12753155,12626503,12504591,11509555,11178875,11087996,10964907,10958799,10806096,10433269,10433268,16217014,19416473 50944 NM_016148,AC008743,AC010325,CH471135,AF163302,AF226728 NP_057232,EAW71893,EAW71894,AAD45121,AAF35887,Q9Y566 Hs.274255 SPANK-1|SSTRIP|synamon OTTHUMP00000174438|SH3 and multiple ankyrin repeat domains protein 1|SSTR-interacting protein|shank1|somatostatin receptor-interacting protein protein-coding 736232 SHANK2 SH3 and multiple ankyrin repeat domains 2 This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq] 10506216,11583995,17081983,16554811,16293618,15489334,14702039,12626503,12504591,12477932,11087996,10964907,10806096,10527873,10470851,10433269,10373412,9742101,9110174,8619474,10433268,10844022,10958799,17474147,20080968,20473310,20531469 22941 NM_012309,NM_133266,AP000590,AP001271,AP003783,AP005401,CH471076,U73633,AA464273,AB028945,AB208025,AB208026,AB208027,AF131790,AF141901,AK095088,AK096045,AK128563,BC041371,BC093885,BC112097,BC113876,BC114484,BC143389,BX648718,DQ152234,AP001648,AP003967,AP004370 NP_036441,NP_573573,EAW74771,EAW74772,EAW74773,EAW74774,EAW74775,EAW74776,EAW74777,EAW74778,EAW74779,BAA82974,BAH37016,BAH37017,BAH37018,AAF02496,AAH93885,AAI12098,AAI14485,AAI43390,AAZ77790,Q24JS4,Q9UPX8,AAI68372 Hs.268726,Hs.720021 AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3 GKAP/SAPAP interacting protein|OTTHUMP00000165931|OTTHUMP00000165996|OTTHUMP00000166023|OTTHUMP00000166026|OTTHUMP00000202300|SH3 and multiple ankyrin repeat domains protein 2|cortactin SH3 domain-binding protein|cortactin-binding protein 1|proline rich synapse associated protein 1|proline-rich synapse associated protein 1|proline-rich synapse-associated protein 1 protein-coding 732251 SHANK3 SH3 and multiple ankyrin repeat domains 3 This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD) which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene are a major causitive factor in the neurological symptoms of 22q13.3 deletion syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq] 1599213 17474147,19384346,19371741,18615476,19077115,18505557,17999366,17173049,16284256,14702039,12920066,12504591,12477932,11431708,11258795,10806096,10414979,10527873,11509555,12626503,16637659,19454329,19566951,19736351,20080650,20385823,20442744 1599213 85358 NM_001080420,NG_008607,AC000036,AC000050,DQ173561,AB051437,AK074038,BC018856,BC045765,BC062987,CR617746,CR625313,AB569469 NP_001073889,ABA00478,BAB33320,BAB84864,AAH62987,Q3S3B4,Q6P5A2,Q9BYB0,BAJ09793 Hs.149035 DEL22q13.3|KIAA1650|PROSAP2|PSAP2|SPANK-2 SH3 and multiple ankyrin repeat domains protein 3|proline rich synapse associated protein 2|proline-rich synapse-associated protein 2|sh3/ankyrin domain gene 3|shank postsynaptic density protein protein-coding 1603608 SHARPIN SHANK-associated RH domain interactor 18950845,15489334,12753155,12477932,11230166,11178875,20179993,20956555 81858 NM_030974,AC104592,CH471162,CS051355,AB052764,AB052765,AK075518,AL136816,BC002688,BC017230,BC025244,BC034028,BE877614,BI911222,FJ655995 NP_112236,EAW82150,EAW82151,EAW82152,EAW82153,EAW82154,EAW82155,EAW82156,CAI72172,BAC53797,BAC53798,BAC11666,CAB66750,AAH02688,AAH17230,AAH25244,AAH34028,ACN38058,Q6PJD5,Q9H0F6 Hs.529755 DKFZp434N1923|SIPL1 hSIPL1|shank-associated RH domain-interacting protein|shank-interacting protein-like 1|sharpin protein-coding 1350494 SHB Src homology 2 domain containing adaptor protein B 2298729,1580863 8806685,7713524,7537362,9484780,8302579,16971391,16630561,16569669,15951569,15919073,15489334,15164053,15026417,14702039,12520086,12477932,12464388,12200137,12181353,12084069,11786545,10964504,10837138,10828022,10488157,9751119,10477520,20171287 2298729 6461 AL138752,NM_003028,AL161448,AL583849,CH471071,AK055947,BC029953,BC136581,BC136582,X75342 NP_003019,CAI13876,CAH73192,CAH73120,EAW58254,EAW58255,AAI36582,AAI36583,CAA53091,Q15464 Hs.521482 RP11-3J10.8|bA3J10.2 SH2 domain-containing adapter protein B|SHB (Src homology 2 domain containing) adaptor protein B|SHB adaptor protein (a Src homology 2 protein) protein-coding 736172 SHBG sex hormone-binding globulin This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein binds each steroid molecule as a dimer formed from identical or nearly identical monomers. The use of alternate promoters and alternatively spliced transcripts have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2313783,2313787,2313782,2313784,1625245,1580863 19124506,19091090,19086053,19064572,19064566,19015200,19005973,18980759,18949680,18937076,18767927,18681858,18676680,18636124,18505907,18505902,18477206,18464913,18437557,18346991,18318428,18312604,18192296,18188141,18056923,18047273,17992261,17952758,17893265,17890489,17884445,17706202,17684316,17507624,17411440,17315164,17258903,17220347,17189294,17176215,17077994,17027364,17027360,16982738,16949385,16926255,16896040,16757555,16394089,16335952,16331562,16251630,16155373,15894658,15879463,15862967,15784702,15755867,15668497,15664449,15634719,15574421,15489334,15292305,15199113,15193539,15146368,15111517,15028279,14764814,14694008,14671199,14568572,12861158,12800098,12753385,12679434,12603009,12477932,12235141,12228253,12151349,12081841,12065592,12054810,12039072,12015315,11473114,11140838,10675319,10419028,10391209,8964583,7714097,3702459,3569533,3542030,19168589,2587256,14718574,19453261,19429700,19416531,19327605,19194113,19179433,2956126,2956125,2608061,2249477,1400872,20354921,20716560,20734064,20974254,19022535,20829367,20841609,20634197,20690069,20691435,20368409,19170196,19196890,19336534,19534810,19557594,19574343,19598235,19625176,19649728,19657112,19672706,19679209,19692168,19724880,19733622,19765778,19770023,19929279,19933169,19945451,20133463,20173016,20200332,20346360,20432167,20540673 2313783,2313787,2313782,2313784,1625245 6462 NM_001040,NG_011981,NM_001146279,NM_001146280,NM_001146281,NR_027462,NR_027463,AC007421,CH471108,M31651,X16349,X16350,AK302603,BC069597,BC101785,BC112186,CD013955,CD013957,EU352656,EU352659,EU352660,EU352661,EU352662,EU352663,EU352664,EU352665,EU352666,EU352667,EU352668,EU352669,EU352670,EU352671,EU352672,EU352673,EU352674,EU352675,EU352676,X05403,X05792,X05885,X16351 NP_001031,NP_001139751,NP_001139752,NP_001139753,EAW90149,EAW90150,AAC18778,CAA34398,CAA34399,BAG63852,AAH69597,AAI01786,AAI12187,ABY68003,ABY67997,ABY67998,ABY67999,ABY68000,ABY68001,ABY68002,ABY68004,ABY68005,ABY68006,ABY68007,ABY68008,CAA28987,CAA29234,CAA29309,CAA34400,P04278 Hs.632235 ABP|MGC126834|MGC138391|SBP|TEBG androgen binding protein|sex hormone-binding globulin|sex steroid-binding protein|testis-specific androgen-binding protein|testosterone-binding beta-globulin|testosterone-estradiol-binding globulin|testosterone-estrogen-binding globulin protein-coding 1346921 SHC1 SHC (Src homology 2 domain containing) transforming protein 1 1304398,1580863,1642523,1643173,1643176,1643171,1643177,1643188,1643185,1642762,2299174,1625124,2317988 20624904,7537849,7559478,7541045,14676841,8491186,11520933,1623525,7739560,8493579,8810325,9544989,9690470,14665640,19383602,19229850,19055724,18840094,18660489,18611262,18504439,18480379,18420583,18385518,18279888,18093973,18067454,10816433,10790433,10783152,10764799,10749680,10748054,10704825,10662798,10652211,10650943,10623845,10602027,10570290,10559276,10482988,10477722,10457218,10382761,10086341,10037694,9927207,9872323,9824671,9741627,9710588,9710204,9694850,9685404,9660833,9659899,9632636,9614102,9446569,9388490,9378963,9373149,9346925,9344843,9325171,9233773,9223670,9209414,9192859,9174053,9126968,9121430,9096689,9083103,9058724,9049300,9047384,9045663,8940017,8939605,8918464,8776723,8761298,8662998,8662748,8656061,8643566,8628261,8617812,8557643,8524391,8400282,8294403,8226808,8195171,8183561,8125298,8035825,7961936,7933095,7929214,7806213,7791787,7731718,7675451,7650013,7635484,7556090,7544443,7544002,7541035,7535773,7524086,7514169,7499194,7473762,16436505,16113100,7559507,10803466,12441060,11964172,10477741,10080542,9045692,8662733,8647288,8112292,11287610,10675333,11533253,12446789,10708759,10092678,9856458,9660480,11349134,10194451,10900203,10822173,8643691,7970715,16729043,10085134,9461587,11888936,8626541,12135708,11782427,12871937,11854294,10319320,7537361,16189514,8874179,8723348,11432829,7657612,8943228,8610109,8577769,9047383,9202037,10681566,8887653,10964917,9148935,8155326,7515480,7542991,10891441,8084588,10340378,8890167,20667496,17207965,20739287,20226758,15562031,15485499,15489334,15316024,15308584,15226408,15094067,15036421,14990987,14983012,14764897,14749389,14702039,14573619,14530863,12789267,12589038,12586295,12577067,12522270,12477932,12446583,12400011,12237775,12069755,12048194,12024011,12009895,11980671,11950700,11948181,11903040,11896612,11884620,11884411,11877420,11855827,11773443,11724572,11714803,11707405,11707404,11707390,11694516,11607835,11505033,11302736,11094073,11075717,11044453,11027663,10996427,10971656,10921922,10896916,18032526,17998013,17938255,17908971,17906149,17380301,17167775,17158237,17081983,17081113,16934220,16825188,16756945,16519809,16487929,16481327,16257509,16186108,16170380,15992607,15951569,15888547,15753984,15705774,15688026,15592455,20534722,20637729,10224114,10629055,11071635,11342545,11825908,12052829,12419535,12485888,12808090,15588985,16034442,16099422,16219545,16843263,19172738,19696221,19826412,19828641,19889638,19889727,20061561,20111892,20354186,20379614,7516469,7518560,7520523,7798267,8541543,8621719,8631299,8633037,8702728,8940081,8995379,9122198,9234717,9488479,9716598,9733714,9837978,20676142,8631894 1304398,1642523,1643173,1643176,1643171,1643177,1643188,1643185,1642762,2299174,1625124,2317988 6464 AK296786,AK315842,BC011813,BC014158,BC017283,BC033925,BX647136,BX647149,U73377,X68148,NM_001130041,NM_001130040,NM_183001,AF455141,AL451085,CH471121,Y09847,AB208849,AB451255,AB451379,AK096169,AK130014,AK225332,AK292143,NM_003029 BAF84832,BAG59364,BAF98733,AAH14158,AAH33925,AAB49972,CAA48251,P29353,Q59HB0,Q5T181,Q5T182,Q5T187,Q5T188,Q8NFT0,Q8NFT1,NP_003020,NP_001123513,NP_001123512,NP_892113,AAM61859,AAM61860,CAI13245,CAI13246,CAI13247,CAI13248,CAI13249,CAI13250,CAI13251,CAI13252,CAI13253,CAI13254,EAW53167,EAW53168,EAW53169,EAW53170,EAW53171,CAA70977,BAD92086,BAG70069,BAG70193,ADQ32764 Hs.433795 FLJ26504|SHC|SHCA OTTHUMP00000035472|SH2 domain protein C1|SHC (Src homology 2 domain-containing) transforming protein 1|SHC-transforming protein 1|SHC-transforming protein 3|SHC-transforming protein A|src homology 2 domain-containing-transforming protein C1 protein-coding 1353619 SHC1P1 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1 9192859 6465 NG_001195,AL034408,Y09846 pseudo 1350366 SHC2 SHC (Src homology 2 domain containing) transforming protein 2 1299208,1580863 7527937,9790910,11520933,18029348,16368877,15057824,12477932,12006576,9507002,8760305,12446789,10749680,7739560 1299208 25759 NM_012435,AC006124,AC008988,AC138433,AB001451,AL134433,AL360254,BC030527,BC034544,BC048290,BQ025513,BU754380,BY796046,CF457169,CK826553,CR617776 NP_036567,BAA25798,CAB96175,P98077,AAI56110,AAI56899 Hs.30965 SCK|SHCB|SLI SH2 domain protein C2|SHC-transforming protein 2|SHC-transforming protein B|neuronal Shc adaptor homolog|protein Sck|src homology 2 domain-containing-transforming protein C2 protein-coding 737159 SHC3 SHC (Src homology 2 domain containing) transforming protein 3 11877420,8808684,11520933,18997821,17919311,17179996,15940252,15870690,15735675,15489334,12477932,12446789,12242309,12185581,12006576,11812778,9507002,9345034,8760305,8610109,16436505,9325171,12074588,14702039,19748727,20379614,9690470,7739560 53358 NM_016848,AL160054,AL353150,CH471089,BC026314,BX641139,D84361,AK127258,BC042431,BX538228,AL772202 NP_058544,CAI41366,CAI16864,CAI16865,EAW62759,EAW62760,AAH26314,BAA12322,BAA12323,Q5T7I8,Q92529,ABM87662 Hs.292737 DKFZp686H1544|FLJ45325|N-Shc|NSHC|RAI|SHCC SH2 domain protein C3|SHC-transforming protein 3|SHC-transforming protein C|neuronal Shc|protein Rai|src homology 2 domain-containing transforming protein C3|src homology 2 domain-containing transforming protein c3|src homology 2 domain-containing-transforming protein C3 protein-coding 1602620 SHC4 SHC (Src homology 2 domain containing) family, member 4 17452444,17409413,12975309,12477932,20379614,20663410 399694 NM_203349,AC012379,AC091073,AK124916,AK125762,AK302156,AW102644,AY358250,AY464565,BC033907 NP_976224,BAG54111,BAG54244,BAH13639,AAQ88617,AAR19363,AAH33907,Q6S5L8 Hs.642615 MGC34023|RaLP|SHCD SH2 domain protein C4|SHC-transforming protein 4|SHC-transforming protein D|hShcD|rai-like protein|src homology 2 domain-containing-transforming protein C4 protein-coding 1354140 SHCBP1 SHC SH2-domain binding protein 1 17353931,16964243,16344560,16189514,15489334,15342556,15302935,15146197,15009096,14702039,12477932,10086341,9373149,8125298,7829101,15778465,19615732 79801 NM_024745,AC092368,CH471092,AA401234,AK025662,AK055931,AK225315,AK292164,AK310430,AK315706,BC000960,BC030699,BI495128,BP245197,CN259555,DB322103 NP_079021,EAW82680,EAW82681,BAB15208,BAB71049,BAF84853,BAG38067,AAH00960,AAH30699,Q8NEM2,ABW03683,ABW03337,ABW03345 Hs.123253 FLJ22009|MGC26900|PAL SHC SH2 domain-binding protein 1 protein-coding 1345976 SHCL1 SHC (Src homology 2 domain containing) transforming protein-like 1 pseudogene 7635484 6466 NG_004765,AC003102,U31058 SHCL1 pseudo 1601984 SHD Src homology 2 domain containing transforming protein D 15489334,14702039,12477932,9315092,10454579,17207965 56961 NM_020209,AC008616,CH471139,AK055673,AK056268,AL390078,BC007206,CR592131,CR612209,CR613343,CR624687,CR625321 NP_064594,EAW69241,BAB70981,CAB98202,AAH07206,Q96IW2,ADQ32660 Hs.7423 SH2 domain-containing adapter protein D|src homology 2 domain-containing transforming protein D protein-coding 1605584 SHE Src homology 2 domain containing E 16710414,15489334,12693554,12477932,9315092 126669 NM_001010846,AL162591,CH471121,AK074067,AK126006,AK131004,BC117210,BC143765,CR936667,CR936736,AI797276 NP_001010846,CAH72851,EAW53197,EAW53198,BAB84893,AAI17211,AAI43766,Q5VZ18 Hs.591481 DKFZp451D1511|DKFZp686E14106|RP11-350G8.8 SH2 domain-containing adapter protein E protein-coding 1602197 SHF Src homology 2 domain containing F 15146197,14702039,12477932,11095946,8889548 90525 NM_138356,AC051619,CH471082,AK094391,AK096267,AK123658,AK301625,AK303749,BC007586,BC101601,BC101603,BC143601,BC171730,BM669861,BX416415,CN287519,CR597455,CR604168,CR607464,CR610652,CR613819,CR626127 NP_612365,EAW77298,EAW77299,EAW77300,EAW77301,BAC04345,BAG53243,BAG63110,BAG64721,AAH07586,AAI01602,AAI01604,AAI43602,AAI71730,Q7M4L6,Q8N9I8 Hs.310399 MGC126650|MGC126652 SH2 domain-containing adapter protein F protein-coding 1349756 SHFM1 split hand/foot malformation (ectrodactyly) type 1 The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq] 10373512,16239144,15117943,18950845,18775730,18270339,17563742,17406092,17066443,16189514,15489334,12853948,12690205,12477932,12228710,9927667,9847074,8733122,1895319,1877619,20610542,20808887,19690177,20220765,20694011 7979 NM_006304,NG_009273,AC073230,CH236949,CH471091,AK291070,AK309241,BC032782,CR456887,CR591835,U41515 NP_006295,AAQ93368,EAL24125,EAW76746,EAW76747,BAF83759,AAH32782,CAG33168,AAA91179,P60896,Q6IBB7 Hs.489201 DSS1|ECD|SEM1|SHFD1|SHSF1|Shfdg1 26S proteasome complex subunit DSS1|deleted in split hand/split foot protein 1|deleted in split-hand/split-foot 1|split hand/foot deleted protein 1|split hand/foot malformation type 1 protein protein-coding 1626597 SHFM1P split hand/foot malformation (ectrodactyly) type 1 pseudogene 9060422 153842 NG_001311,AC026726,U61847 DSS1P1|SHFM1P pseudo 1346269 SHFM2 split hand/foot malformation (ectrodactyly) type 2 8454282 6463 736829 SHH sonic hedgehog homolog (Drosophila) This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq] 1580354,2306294,2306299,1580863,628387 9811851,9593755,9302262,9115210,8896571,8269518,8012392,8012391,7720571,7590746,20508033,20531442,20538960,20972907,20854074,20643644,8896572,19460624,19453261,19432668,19407245,19398181,19363151,19291772,19254376,19244133,19240184,19219074,19177589,19074837,19057928,19055941,19004543,18997815,18974107,18953259,18829478,18788453,18787206,18776995,18776754,18772349,18701018,18691547,18661269,18655123,18629868,18534984,18524848,15249145,15238528,15221788,15170664,15128061,14733907,14727139,14691301,14520413,14520411,12926841,12917489,12853948,12837695,12783258,12773389,12709790,12690205,12632368,12629553,12547712,12533514,12514186,12503095,12495844,12477932,12421920,12417650,12394760,12032320,11983699,11857543,11576188,11572986,11471164,11395778,11359461,11175816,11076863,10556296,10441331,10050855,18463159,18425375,18422746,18417549,18332216,18308861,18178630,18174246,18156157,18063705,17914115,17895245,17761145,17628016,17611415,17461467,17414057,17409199,17392427,17390043,17378681,17353904,17152067,17102592,17050669,17035233,17007023,16945339,16786128,16778137,16701100,16571640,16540513,16528374,16448649,16335952,16323008,16322088,16300466,16282375,16244652,16159933,16003737,15998911,15939571,15905200,15790807,15675968,15592520,15521068,15502857,15470048,15314219,15292211,15249678,10654605,20440271,20578145,20634891,20425842,20720195,20564213,20842831,19847792,19856079,19862523,19901516,19906872,19920144,19952108,19996099,20015350,20026066,20053908,20087349,20137639,20146882,20186790,20200556,20218977,20219995,20512148,20526338,12221011,17927850,18410549,18836447,19540662,19548265,19561609,19564910,19577569,19593328,19603532,19622100,19629560,19633682,19662327,19730683,19738389,19784071,19788370,19801637,19834598,19836325,14764698,17227833 1580354,2306294,2306299,628387 6469 NM_000193,NG_007504,AB020410,AC002484,AC078834,AY422195,CH236954,CH471149,AY927450,L38518,HM015597 NP_000184,BAA34689,AAB67604,AAS01990,AAQ87879,EAL23913,EAX04543,AAA62179,Q15465,AAI11926,ADL14518 Hs.164537 HHG1|HLP3|HPE3|MCOPCB5|SMMCI|TPT|TPTPS sonic hedgehog homolog|sonic hedgehog protein protein-coding 1353356 SHISA2 shisa homolog 2 (Xenopus laevis) 17481602,15340161,12975309,12477932 387914 NM_001007538,AL139004,CH471075,AY358775,BC132898,BC137092 NP_001007539,CAH73406,EAX08378,AAQ89135,AAI32899,AAI37093,Q6UWI4 Hs.433791 C13orf13|PRO28631|TMEM46|WGAR9166|bA398O19.2|hShisa chromosome 13 open reading frame 13|protein shisa-2 homolog|transmembrane protein 46 protein-coding 2292184 SHISA3 shisa homolog 3 (Xenopus laevis) 17481602,12477932 152573 NM_001080505,AC024022,AC084010,CH471069,BC012029,BC127690,BC127691,CR624275 NP_001073974,EAW93002,AAH12029,AAI27691,AAI27692,A0PJX4 Hs.370904 hShisa3 protein shisa-3 homolog protein-coding 1323817 SHISA4 shisa homolog 4 (Xenopus laevis) 737633 17481602,16710414,15489334,12975309,12477932,16344560 737633 149345 NM_198149,AL513217,CH471067,AK294106,AK316312,AY358589,BC009558,BC061908,BC066977,BC104444,BC104445,BC111855,CR626801,AK311191,BM923401,DA130234,NR_030775 NP_937792,CAH72277,EAW91378,EAW91379,BAG57441,BAH14683,AAQ88952,AAH09558,AAH61908,AAI04445,AAI04446,AAI11856,Q96DD7,ACE87451,ACE86765 Hs.632471 C1orf40|FLJ18233|MGC102893|MGC129812|MGC129813|TMEM58|hShisa4 protein shisa-4|transmembrane protein 58 protein-coding 1602716 SHISA5 shisa homolog 5 (Xenopus laevis) 12761501,19367581,17889823,14702039,12477932,12135983,11042152,15064722 51246 AC104448,AC134772,AF520702,AF520703,CH471055,CS051259,AB097007,AF151051,AF520698,AK056328,AK075441,AK124652,AK298799,AK298842,NM_016479,AL117413,AL832568,BC001463,BC020279,CR590175,CR590280,CR591364,CR591535,CR592063,CR592192,CR592234,CR592761,CR592862,CR593080,CR593445,CR593606,AK301191,CR595213,CR595692,CR596221,CR596821,CR596912,CR596992,CR598876,CR599906,CR600306,CR601224,CR601420,CR603133,CR603751,CR603894,CR604587,CR604885,CR604935,CR605105,CR605649,CR608469,CR608471,CR609022,CR609443,CR612305,CR612747,CR615082,CR615519,CR615636,CR616699,CR617542,CR617624,CR617710,CR617987,CR619118,CR619291,CR619483,CR620085,CR620430,CR620899,CR622735,CR622754,CR622811,CR622812,CR623003,CR623228,CR623835,CR624287,CR626100,CR614701 NP_057563,AAM74235,EAW64885,EAW64886,EAW64887,EAW64888,EAW64889,CAI72125,BAC77360,AAF36137,AAM74232,BAB71152,BAC11623,BAG54061,BAG60934,BAG60969,BAH13428,CAH10718,CAH10587,AAH01463,Q8N114,Q9P0Q9 Hs.414579 SCOTIN|hShisa5 OTTHUMP00000210138|OTTHUMP00000210139|OTTHUMP00000210140|protein shisa-5|putative NF-kappa-B-activating protein 120 protein-coding 1602039 SHISA6 shisa homolog 6 (Xenopus laevis) 12477932,14702039,16344560,20379614 388336 BC105707,NM_207386,AC005725,AC007510,AC055825,AK127379,AK128003,DQ070854,AK094349,AK095052,BC105704,BC105705,BC105706,DA362563,NM_001173461,NM_001173462 NP_997269,BAC86949,BAG54617,AAY68487,Q6ZSJ9,AAI48580,AAI56587,NP_001166932,NP_001166933 Hs.592124 FLJ37030|FLJ37733|FLJ45455 OTTHUMP00000205112|protein shisa-6 homolog protein-coding 3160565 SHISA7 shisa homolog 7 (Xenopus laevis) 11181995,12477932,14702039,15057824 729956 AC135592,AK091660,AK094959,AK127223,AL831832,BC093900,BC112197,NM_001145176 A6NL88,AAH93900,AAI12198,BAC03715,BAC04461,BAC86890,NP_001138648 Hs.6664 DKFZp547H0214|FLJ34341|FLJ37640|FLJ45290|MGC120935|MGC138402 OTTHUMP00000205373|UPF0626 protein A|protein shisa-6-like|protein shisa-7 protein-coding 3160513 SHISA9 shisa homolog 9 (Xenopus laevis) 20195266,14702039,18677311,20185686,20379614 729993 AC009134,AC092324,AC092380,AJ002784,AK000877,AK026131,AK094972,AK299610,AK309038,AK309193,CR627300,CR749545,DC375222,H20826,NM_001145204,NM_001145205 B4DS77,BAG61539,NP_001138676,NP_001138677 Hs.724830,Hs.724849 CKAMP44|DKFZp686D24206|DKFZp686E24206|FLJ10015|FLJ37653|FLJ58277|FLJ99079|FLJ99234 cystine-knot AMPAR modulating protein|protein shisa-9 protein-coding 1352927 SHKBP1 SH3KBP1 binding protein 1 729812,1580863 16733801,16344560,15324660,12477932,11152963,9110174,8619474,16169070,19615732 729812 92799 AC010412,AC020929,CH471126,CQ834620,AF258553,AK075057,AK123695,AK297006,AK300808,AK300819,AK312748,NM_138392,AY007117,BC007653,BC022855,CA416700,CR590661,CR598538,CR599049,CR618516,DB038927 NP_612401,EAW56979,EAW56980,EAW56981,CAH05525,AAG23756,BAC11374,BAG53940,BAG59542,BAG62464,BAG62474,BAG35616,AAH07653,AAH22855,Q8TBC3 Hs.26506 PP203|Sb1 SH3KBP1-binding protein 1 protein-coding 1323770 SHMT1 serine hydroxymethyltransferase 1 (soluble) This gene encodes the cellular form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in 2 transcript variants encoding 2 different isoforms. Additional transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1359815,1580863,2300328,2300383,2300321,2300329 15797993,15598699,15531579,15489334,15198953,15122597,15060097,15059614,14656021,12615003,12604405,12477932,12161434,11997338,11386852,10995219,10549165,9573390,9373149,9056951,8533763,8527925,8125298,6794659,16169070,16006999,627563,9753690,8505317,11278996,11516159,19336370,19223009,19161160,19159907,19086053,19064578,19048631,19020309,18996879,18830263,18635682,18427977,18381459,18378616,17904392,17896178,17891500,17595805,17446168,17420066,17311260,17311259,17206530,17119116,17113224,17074544,17035141,16536979,16447238,16365025,16049973,16046727,17482557,18029348,20140262,20737570,20842733,20852008,20877624,20920350,20977478,21055808,21090237,20544798,20615890,20634891,20670920,11063567,19513116,19619240,19692168,19706844,19707223,19734143,19751277,19774638,19776626,19777601,19858780,20031554,20101025,20386493,20398908,20453000,20458436,20511665 1359815,2300328,2300383,2300321,2300329 6470 NM_148918,NM_004169,AC127537,AF017064,AL353997,CH471196,Y14489,Y14490,AF017065,AK223552,AK298415,AK302834,BC007979,BC022874,BC038598,CR592100,CR594273,CR599388,CR613144,L11931,L23928,Y14485,Y14486,Y14488,NG_017111 NP_683718,NP_004160,EAW55637,EAW55638,EAW55639,EAW55640,EAW55641,EAW55642,EAW55643,CAB54842,CAB54843,AAC39726,BAD97272,BAG60641,BAG64027,AAH07979,AAH22874,AAH38598,AAA63257,AAA36018,AAA36019,AAA36020,CAB54838,CAB54839,CAB54841,P34896,Q53ET7,Q9UMC8,Q9UMC9,Q9UMD0,ABM84168,ABW03580 Hs.513987,Hs.636044 CSHMT|MGC15229|MGC24556|SHMT 14 kDa protein|cytoplasmic serine hydroxymethyltransferase|glycine hydroxymethyltransferase|serine hydroxymethyltransferase, cytosolic|serine methylase protein-coding 1350866 SHMT1P serine hydroxymethyltransferase 1 (soluble) pseudogene 9156323,8786078 6471 AL592548,NG_002289,X85980 SHMT1P pseudo 1318437 SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) 1359815,1580863,2300383 18029348,20877624,8999870,8435385,8125298,15489334,14702039,12477932,11386852,11063567,10828359,10549165,9639330,9573390,9497969,9373149,8505317,17482557,17220478,17353931,11516159,18063578,19086053,19048631,18988749,18636124,15635413,19913121,20628086,20562859,15146197,16344560,19513116,19615732 1359815,2300383 6472 GN344115,NM_005412,AC137834,CH471054,U23143,Y12331,AK055053,AK223555,AK295941,AK296183,AK297173,AK298231,AK301339,AK301443,AK303827,AK315916,BC008066,BC008711,BC011911,BC013677,BC025355,BC032584,BC044211,BC091501,BT006866,BX647711,BX648847,CR613033,L11932,CN395976,DA052422,DC339924,DC386590,NM_001166356,NM_001166357,NM_001166358,NM_001166359,NR_029415,NR_029416,NR_029417 ABM85356,CAY55993,NP_005403,EAW96993,EAW96994,EAW96995,EAW96996,EAW96997,EAW96998,EAW96999,EAW97000,EAW97001,AAA64572,CAA72999,BAD97275,BAG58725,BAG58915,BAG59666,BAG60500,BAG62887,BAG62969,BAG64774,BAH14287,AAH11911,AAH13677,AAH32584,AAH44211,AAH91501,AAP35512,CAI46021,AAA63258,P34897,Q53ET4,Q5BJF5,Q5HYG8,Q8N1A5,ABM82235,NP_001159828,NP_001159829,NP_001159830,NP_001159831 Hs.728151 GLYA|SHMT GLY A+|glycine auxotroph A, human complement for hamster|glycine hydroxymethyltransferase|serine aldolase|serine hydroxymethylase|serine hydroxymethyltransferase, mitochondrial|serine methylase|threonine aldolase protein-coding 1317750 SHOC2 soc-2 suppressor of clear homolog (C. elegans) 1580863 9674433,9618511,16301319,15489334,14702039,12477932,10783161,10048485,20071468,16630891,19684605,20051520,20110435 8036 AL158163,CH471066,AB020669,AF054828,AF068920,AK090820,AK292833,BC044752,BC050445,BX649055,CR592821,NM_007373,AK293271,DB451165 NP_031399,CAH72812,CAH72813,EAW49548,EAW49549,EAW49550,BAA74885,AAC25698,AAC39856,BAG52235,BAF85522,AAH50445,Q9UQ13,BAG56800 Hs.104315 FLJ60412|KIAA0862|SIAA0862|SOC-2|SOC2|SUR-8|SUR8 OTTHUMP00000020482|leucine-rich repeat protein SHOC-2 protein-coding 1349053 SHOX short stature homeobox This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 1580863 14981722,14513875,20683993,21150837,9259282,9590292,19188742,19016538,18797583,18322641,18059093,17994562,17935511,17911654,17881654,17201812,17200153,17182655,16941489,16826534,16807223,16597678,16175500,15931687,15931595,15529627,15292358,15214013,15173321,15145945,15118270,12960152,12784295,12116254,12089524,11891678,11889216,11889214,11874178,11751690,11716161,11403039,11030412,9590293,9254856,9140395,8558568,7815426,6954848,2602357,20412871,19997128,16325853,19578035,19724992,20375215 6473 NM_006883,NM_000451,NG_009385,AY628411,BX004827,CH471225,U82668,U89331,Y11535,Y11536 NP_006874,NP_000442,AAT46026,EAW66815,EAW66816,EAW66817,AAC18820,CAA72298,CAA72299,O15266,Q6IT45,AAI41504,AAI48784 Hs.105932 GCFX|PHOG|SHOXY|SS OTTHUMP00000022822|growth control factor, X-linked|pseudoautosomal homeobox-containing osteogenic protein|short stature homeobox protein|short stature homeobox-containing protein protein-coding 736918 SHOX2 short stature homeobox 2 This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 14702039,12477932,9858825,9466998,19336002,20211142,9482898,19453261,16344560,15489334,14759258 6474 NM_006884,NM_003030,NM_001163678,AC112502,CH471052,AA450208,AF022654,AJ002367,AJ002368,AK095338,BC008829,BX331739,DA447204 ADR82773,NP_006875,NP_003021,NP_001157150,EAW78695,EAW78696,EAW78698,AAC39662,CAA05341,CAA05342,BAG53030,AAH08829,O60902,EAW78697 Hs.55967 OG12|OG12X|SHOT SHOX homologous gene on chromosome 3|homeobox protein Og12X|paired-related homeobox protein SHOT|short stature homeobox protein 2 protein-coding 1317524 SHPK sedoheptulokinase The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq] 1580863 19913121,20628086,10673275,18186520,14702039,12477932,19679847 23729 NM_013276,AC027796,AF168787,CH471108,AF163573,AK055609,AK057020,AK057040,AK298360,AK312428,AL832420,BC020543,BC111366 NP_037408,AAF43103,EAW90501,AAF24936,BAG51543,BAG60602,BAG35337,CAH10646,AAH20543,Q9UHJ6,ABM82572,ABM85761 Hs.579217 CARKL|FLJ32478|SHK carbohydrate kinase-like protein|sedoheptulokinase protein-coding 1321190 SHPRH SNF2 histone linker PHD RING helicase SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM] 17130289,17108083,16169070,15324660,14702039,12837266,12477932,7566098,18719106,19615732,20379614 257218 NM_001042683,NM_173082,AL356599,AL451145,CH471051,AA315737,AK075318,AK094944,AK126959,AK130768,AL833521,AY161136,AY163808,BC113089,BC117685,BC117686,BX648322,CR615021,CR749290,AB095943 NP_001036148,NP_775105,CAI41120,CAH70765,EAW47836,EAW47837,EAW47838,EAW47839,BAC23119,BAC11544,BAC04459,BAG54410,AAO26201,AAO06907,AAI13090,AAI17686,AAI17687,CAH18145,Q149N8 Hs.723297 FLJ27258|FLJ37625|FLJ45012|FLJ90837|KIAA2023|MGC134886|bA545I5.2 2610103K11Rik|E3 ubiquitin-protein ligase SHPRH|OTTHUMP00000017363|SNF2, histone-linker, PHD and RING finger domain-containing helicase protein-coding 1345880 SHQ1 SHQ1 homolog (S. cerevisiae) 737633 14702039,12477932,19383767,19615732 737633 55164 NM_018130,AC114876,AC134050,CH471055,AK001401,AK024656,AK092962,AK296789,BC017204,BC017274,BC025270,BC032671,BC039830,BC047879,BX641074,CR602146 NP_060600,EAW65521,EAW65522,EAW65523,BAA91669,BAB14947,BAG59367,AAH17204,AAH17274,AAH25270,AAH32671,AAH39830,AAH47879,CAE46037,Q6PI26 Hs.606584 DKFZp686H07226|FLJ10539|Shq1p protein SHQ1 homolog protein-coding 1605292 SHROOM1 shroom family member 1 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM] 16684770,16615870,12477932,11853319 134549 AC004500,NM_133456,AC004775,CH471062,AB075840,AF314142,BC104914,BC104916,BC143494,EB387851,NM_001172700 NP_597713,EAW62310,EAW62311,EAW62312,BAB85546,AAM15526,AAI04915,AAI04917,AAI43495,Q2M3G4,NP_001166171 Hs.519574 APXL2|KIAA1960 OTTHUMP00000066204|apical protein 2|protein Shroom1 protein-coding 1343092 SHROOM2 shroom family member 2 The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. [provided by RefSeq] 1580863 16684770,7795590,17081983,16615870,15772651,15324660,14702039,12477932,17474147 357 NM_001649,NG_012493,AC002365,AC090481,AC135254,CH471074,AK096596,AK299907,BC140866,CR749271,X83543 NP_001640,AAC32592,EAW98774,BAG53335,BAH13168,AAI40867,CAH18127,CAA58534,Q13796,Q68DU3 Hs.567236 APXL|DKFZp781J074|FLJ39277|HSAPXL APX homolog of Xenopus|apical protein, Xenopus laevis-like|apical protein-like (xenopus laevis)|apical-like protein|protein Shroom2 protein-coding 1602873 SHROOM3 shroom family member 3 20636464,19740415,20208534,20222955,20379614,19430482,16615870,14760703,14702039,12477932,10819331,10767323,10589677,9847074,15778465,20383145,20383146,20700443 57619 NG_028077,AK055294,AK124415,AK127929,AK128677,AK304103,AW025141,BC007291,AK027744,NM_020859,AC096743,AC107051,AC107072,AC112249,AC121158,CH471057,AB040914,AB055660,AF109367 BAB55336,BAC85848,BAC87195,BAG54709,BAG65006,AAH07291,Q6ZVL3,Q8TF72,Q96K23,AAI56133,NP_065910,EAX05794,EAX05795,BAA96005,BAB84689,AAQ13515 Hs.702168 APXL3|KIAA1481|MSTP013|SHRM|ShrmL F-actin-binding protein|hShrmL|protein Shroom3|shroom family member 3 protein|shroom-related protein protein-coding 1606521 SHROOM4 shroom family member 4 This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq] 16249884,16684770,18029348,16615870,14702039,12673656,12477932,10737800,10574462 57477 NM_020717,NR_027121,NG_011882,AL121865,AL359272,AL445491,CH471180,AB033028,AK092659,AK127486,AY044234,BC151240,BI018520 NP_065768,EAW89917,EAW89918,BAA86516,AAK95579,AAI51241,Q9ULL8 Hs.420541 KIAA1202|SHAP OTTHUMP00000195166|protein Shroom4|second homolog of apical protein protein-coding 1346980 SHS Sutherland-Haan X-linked mental retardation syndrome 3177467,1605216 347679 1352166 SI sucrase-isomaltase (alpha-glucosidase) 1625543,1625544,1625545,1625550,1625548,1580863 1717481,19121318,17194452,20841351,16802690,16543230,16329100,15944403,15522234,14724820,12477932,11340066,11003604,10903344,9092938,8609217,8521865,7566098,3925457,3896809,3178143,2962903,1677636,1560017,1353958,11329013,16344560 1625543,1625544,1625545,1625550,1625548 6476 NM_001041,AC092695,AC140119,AC144561,CH471052,M84646,AA376756,BC115033,BC115034,BC116452,BC116453,BC132834,BC132860,M22616,X63597,BG187733,DA919374,NG_017043 NP_001032,EAW78601,AAI15035,AAI16453,AAI32835,AAI32861,AAA60551,CAA45140,P14410 Hs.429596 MGC131621|MGC131622 oligosaccharide alpha-1,6-glucosidase|sucrase-isomaltase, intestinal protein-coding 1604014 SIAE sialic acid acetylesterase Sialic acids are acidic 9-carbon sugars typically found at the nonreducing end of sugar chains. They are frequently modified by 9-O-acetylation, and this modification is removed by sialic acid acetylesterases. SIAE appears to encode both lysosomal and cytosolic sialic acid acetylesterase isoforms (LSE and CSE, respectively) (Takematsu et al., 1999 [PubMed 10464298]).[supplied by OMIM] 15489334,15292578,14702039,12477932,10464298,19913121,20628086,18711365,20555325 54414 NM_170601,AP001524,CH471065,AF300796,AF303378,AK056093,AK092224,AL137496,BC022456,BC040966,BC068450 NP_733746,EAW67591,AAG15386,AAG14897,BAG51622,CAB70771,AAH68450,Q9HAT2,ACE87400 Hs.10056 AIS6|CSE-C|CSEC|LSE|MGC87009|YSG2 H-Lse|cytosolic sialic acid 9-O-acetylesterase homolog|sialate O-acetylesterase|sialic acid-specific 9-O-acetylesterase|sialic acid-specific acetylesterase II protein-coding 1351073 SIAH1 seven in absentia homolog 1 (Drosophila) This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq] 1580863 11389840,11863358,9403064,9334332,19224863,18850011,18536714,18314624,18276110,18089810,18070888,18065497,17420721,16899216,16752048,16713569,16615911,16230351,16189514,16174773,16085652,15951807,15492505,15489334,15467739,15326481,15284290,15231748,15221006,15163637,15146197,15064394,14985507,14702039,14654780,14645235,14506261,12810624,12646221,12557228,12477932,12421809,12399545,12072443,11852084,11786535,11752454,11483518,11483517,11389839,11146551,10956387,10747903,10681424,9858595,9822659,9582267,9373149,8799150,8125298,18280659,10207103,20187294,19549727,17533377,19690564,19696028,19775288,19940145,20082325,20144232,20181957,20471960 6477 EF026094,U63295,U76247,NM_003031,AC023818,AJ400626,CH471092,AB451253,AB451377,AK023458,AK094663,AK225895,AK313861,BC018193,BC035562,BC042550,BC044920,BX357983,BX647064,CN360509,CR593197,CR598465,CR607323,CR614925,NM_001006610 ABK15529,AAC12950,AAC51907,Q8IUQ4,ABM81916,ABM85093,NP_001006611,NP_003022,CAC35542,EAW82726,EAW82727,BAG70067,BAG70191,BAG52904,BAG36589,AAH35562,AAH42550,AAH44920,CAE46191 Hs.726243 FLJ08065|HUMSIAH|SIAH1A|Siah-1|Siah-1a|hSIAH1 E3 ubiquitin-protein ligase SIAH1|OTTHUMP00000164190|siah-1|siah-1a protein-coding 2302187 SIAH1L seven in absentia homolog 1-like (Drosophila) 340571 NG_011405,AL359734 CAI41259,Q5JST9 SIAH1L pseudo 734303 SIAH2 seven in absentia homolog 2 (Drosophila) This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq] 1580863 10207103,9334332,19043406,19001609,18850011,18070888,17716627,17533377,17003045,16958618,16899216,16141343,15489334,15466852,15221006,15210114,14702039,14645235,12810624,12477932,12411493,12136098,11786535,11483518,11389839,10704288,10681424,9858595,9403064,9373149,8889548,8125298,18323779,14654780,12952940,15231748,16713569,18629630,19730683,19744480,16174773 6478 AC011317,AJ323446,CH471052,AK055290,AK223565,BC013082,BF514387,BM970396,CR610024,CR611295,U76248,Y15268,NM_005067 NP_005058,EAW78821,BAD97285,AAH13082,AAC51908,CAA75557,O43255,Q53ES4 Hs.477959,Hs.692394 hSiah2 E3 ubiquitin-protein ligase SIAH2|OTTHUMP00000216723|siah-2 protein-coding 1603255 SIAH3 seven in absentia homolog 3 (Drosophila) 16344560,14702039,12477932,20379614 283514 NM_198849,AL157819,AK125411,BC041372,DA804734 NP_942146,CAX15065,AAH41372,Q8IW03,AAI48397 Hs.368483 FLJ39203 seven in absentia homolog 3|siah-3 protein-coding 1351927 SIATL1 sialyltransferase-like 1 6486 1346888 SIDT1 SID1 transmembrane family, member 1 1580863 16344560,15850781,14702039,12477932,10737800,20379614 54847 NM_017699,AC055740,AC112128,CH471052,AI004220,AK295938,AK303385,BC117222,BC143776,BE839090,BG484269,DA217300,DA337075,DB217586,BC143778 NP_060169,EAW79633,BAG58723,BAG64441,AAI17223,Q9NXL6 Hs.591291 B830021E24Rik|FLJ20174|SID-1|SID1 SID1 transmembrane family member 1 protein-coding 1351240 SIDT2 SID1 transmembrane family, member 2 12975309,12477932,10810093,14702039,17081983,16303743,15340161,17897319,19913121,20628086,20379614 51092 AP005018,CH471065,AF151799,AK075137,AK075471,AK292501,NM_001040455,AK292974,AK301501,AK303023,AY358442,BC114522,BC114959,BX648437,CR591296 NP_001035545,EAW67283,EAW67284,EAW67285,EAW67286,EAW67287,EAW67288,EAW67289,EAW67290,EAW67291,EAW67292,EAW67293,EAW67294,EAW67295,EAW67296,AAD34036,BAC11427,BAC11641,BAF85190,BAF85663,BAG63012,BAG64149,AAQ88807,AAI14523,AAI14960,Q1RMF0,Q24JR2,Q8NBJ9 Hs.712144 CGI-40|DKFZp686L17253|FLJ90656 SID1 transmembrane family member 2 protein-coding 1604804 SIGIRR single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 12925853,15866876,10346978,19200604,16432636,16344560,15489334,14715412,14702039,12975309,12477932,11022119,16169070,19699681,20130217,20331378,21077278,20506350,21048031 59307 NM_021805,NM_001135054,AC138230,CH471158,CQ893567,AK025099,AK093427,AK172830,AY358342,BC003591,BC025953,BC106007,BX369506,CR457338,DA963481,DB112269,NM_001135053,XM_002347183,XM_003120663 ABM84379,NP_001128525,NP_068577,NP_001128526,EAX02324,CAH68705,BAB15066,BAD18795,AAQ88708,AAH03591,AAH25953,AAI06008,CAG33619,Q6IA17,ABM87289,XP_002347224,XP_003120711 Hs.501624 MGC110992|TIR8 single Ig IL-1-related receptor|single Ig IL-1R-related molecule|single immunoglobulin domain IL1R1 related|single immunoglobulin domain-containing IL1R-related protein|toll/interleukin-1 receptor 8 protein-coding 1323674 SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq] 1580863 16002716,15790807,14702039,11780052,11238599,11214971,10610356,10406848,8530048,17328080,11133773,19285973,18414664,18383365,20800603,12477932,17330143,19950173,20237496,20653431 6614 NM_023068,AL109804,CH471133,AF230073,AK024459,AK024462,AK024479,AK057560,AK122586,AL833688,AY927519,BC141884,CD365566 NP_075556,CAC17542,CAC17543,EAX10517,EAX10518,AAK00757,BAB15749,BAB15752,BAB15769,BAB71527,BAC56927,AAI41885,Q86YV1,Q9BZZ2 Hs.31869 CD169|DKFZp667F058|FLJ00051|FLJ00055|FLJ00073|FLJ00411|FLJ32150|SIGLEC-1|SN|dJ1009E24.1 sialic acid-binding Ig-like lectin 1|sialic acid-binding immunoglobulin-like lectin 1|sialoadhesin protein-coding 1316634 SIGLEC10 sialic acid binding Ig-like lectin 10 SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM] 1580863 19861682,20237496,17672918,16344560,15489334,12975309,12477932,12163025,12055638,11409878,11358961,11284738 89790 BC101725,NM_033130,AC008750,AY029277,CH471135,AF301007,AF310233,AF311905,AK122619,AK289900,AK290542,AK292025,AK294185,AK303514,AK303717,AK308982,AY032685,AY358337,BC009955,NM_001171156,NM_001171157,NM_001171158,NM_001171159,NM_001171160,NM_001171161,BC143497,BC143500,DA387605 NP_149121,AAK40255,AAK40256,EAW72012,EAW72013,EAW72014,EAW72015,EAW72016,AAM83254,AAK55139,AAK92542,BAC85493,BAF82589,BAF83231,BAF84714,BAH11692,BAH13979,BAH14029,AAK51124,AAQ88703,AAH09955,NP_001164627,NP_001164628,NP_001164629,NP_001164630,NP_001164631,NP_001164632,AAI01726,AAI43498,AAI43501,Q96LC7 Hs.284813 MGC126774|PRO940|SIGLEC-10|SLG2 sialic acid binding Ig-like lectin 10 Ig-like lectin 7|sialic acid-binding Ig-like lectin 10|siglec-like gene 2|siglec-like protein 2 protein-coding 1354413 SIGLEC11 sialic acid binding Ig-like lectin 11 SIGLECs are a family of cell surface lectins defined by shared structural motifs in the first 2 immunoglobulin (Ig)-like domains and by their ability to recognize sialic acids via the first Ig V set domain.[supplied by OMIM] 1580863 18629938,16151003,12975309,11986327,20203208,20237496 114132 NM_052884,NM_001135163,AC011452,CH471177,AB072038,AF337818,AY358135 NP_443116,NP_001128635,EAW52584,EAW52585,EAW52586,EAW52587,BAB86816,AAK72907,AAQ88502,Q96RL6,AAI56823 Hs.661852 OTTHUMP00000211435|sialic acid-binding Ig-like lectin 11|sialic acid-binding lectin 11|siglec-11 protein-coding 1350480 SIGLEC12 sialic acid binding Ig-like lectin 12 Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq] 15489334,14702039,12975309,12477932,11546777,11409877,11328818,9373149,8125298,19913121,20628086,20237496 89858 NM_033329,AC020914,AF277806,CH471135,AF282256,AI132995,AK095919,AK225931,AY358140,BC035809,NM_053003 NP_443729,NP_201586,AAK51233,AAK51234,EAW72022,EAW72023,AAK71521,BAG53167,AAQ88507,AAH35809,Q96PQ1 Hs.249741 FLJ38600|S2V|SIGLECL1|SLG|Siglec-12|Siglec-L1|Siglec-XII SIGLEC-like 1|sialic acid-binding Ig-like lectin 12|sialic acid-binding Ig-like lectin-like 1 protein-coding 1346882 SIGLEC13 sialic acid binding Ig-like lectin 13 474172 1625453 SIGLEC14 sialic acid binding Ig-like lectin 14 17012248,12975309,19369701 100049587 NM_001098612,AC018755,AK298284,AY854038,CA439587,DC428881 NP_001092082,BAG60544,AAX47338,Q08ET2 Hs.707374,Hs.724955 sialic acid-binding Ig-like lectin 14|siglec-14 protein-coding 1604713 SIGLEC15 sialic acid binding Ig-like lectin 15 17483134,14702039 284266 NM_213602,AC087685,CH471088,AK025833,AK092746,AK095432,AK172835,AK290400,AK290402,AK301189,AY971516,DC299128 NP_998767,EAX01462,EAX01463,BAD18800,BAF83089,BAF83091,BAG62771,AAY40743,Q6ZMC9 Hs.287692 CD33L3|HsT1361|SIGLEC-15 CD33 antigen-like 3|CD33 molecule-like 3|sialic acid-binding Ig-like lectin 15 protein-coding 1346125 SIGLEC16 sialic acid binding Ig-like lectin 16 (gene/pseudogene) 18629938,15489334,15057824,12477932,11986327,11546777 400709 NR_002825,AC011452,BC030222,BC039008 A6NMB1 Hs.568076 SIGLECP16|Siglec-P16 pseudo 1313458 SIGLEC5 sialic acid binding Ig-like lectin 5 The sialic acid-binding immunoglobulin-like lectins (SIGLECs), such as SIGLEC5, are a subgroup of the immunoglobulin (Ig) superfamily that mediate protein-carbohydrate interactions. They specifically interact with sialic acids in glycoproteins and glycolipids, with each SIGLEC having a particular preference for both the nature of the sialic acid and its glycosidic linkage to adjacent sugars. SIGLECs have similar structures, including extracellular Ig-like domains composed of an N-terminal V-set domain followed by varying numbers of C2-set domains. It appears that all SIGLECs have an unusual arrangement of conserved cysteine residues in the V-set and adjacent C2-set domains. Most SIGLECs are expressed uniquely within the hematopoietic system (Cornish et al., 1998 [PubMed 9731071]).[supplied by OMIM] 1580863 18029348,19596804,18022638,17675532,17012248,16828866,16732727,16189514,15769739,15489334,15057824,12763136,12477932,11943481,10428856,10343116,9731071,9373149,8889549,8125298,20231688,20237496 8778 NM_003830,AC018755,AY040820,CH471135,AF170484,AK225753,BC029896,BX106622,DC324223,U71383 NP_003821,AAF87846,AAK77223,EAW72033,AAD50978,AAH29896,AAB70703,O15389,ABM83359 Hs.310333 CD170|CD33L2|OB-BP2|OBBP2|SIGLEC-5 CD33 antigen-like 2|OB binding protein-2|OB-binding protein 2|obesity-binding protein 2|sialic acid-binding Ig-like lectin 5|sialic acid-binding immunoglobulin-like lectin 5 protein-coding 1348004 SIGLEC6 sialic acid binding Ig-like lectin 6 1580863 9465907,18029348,18818296,17580316,16344560,12477932,10428856,20237496 946 NM_198845,NM_198846,NM_001245,AC020914,AY040542,CH471135,AK300170,AK300182,AK308174,AK309903,AU138048,BC035359,BC140798,CA495365,CR600025,CR614233,D86358,D86359,U71382,NM_001177547,NM_001177548,NM_001177549 NP_942142,NP_942143,NP_001236,AAK83655,EAW72024,EAW72025,EAW72026,EAW72027,BAG61951,BAG61961,AAH35359,AAI40799,BAA24983,BAA24984,AAB70702,O43699,NP_001171018,NP_001171019,NP_001171020 Hs.720304 CD327|CD33L|CD33L1|CD33L2|CDW327|CDw327|OBBP1|SIGLEC-6 CD33 antigen-like 1|OTTHUMP00000164941|OTTHUMP00000207125|obesity-binding protein 1|sialic acid-binding Ig-like lectin 6 protein-coding 1349915 SIGLEC7 sialic acid binding Ig-like lectin 7 1580863 8188688,10499918,10567377,18331725,16828866,16732727,16623661,15703304,15557178,15292262,14747738,12778482,12477932,12438315,11943481,11774609,11389909,10764831,10611343,10514511,19710502,20237496 27036 BC028150,NM_014385,NM_016543,AC063977,AY040543,CH471135,AF170485,AF178981,AF193441,AJ007395,AJ130710,AJ130711,AJ130712,AJ130713,AK314875 BAG37390,AAH28150,Q9Y286,NP_055200,NP_057627,AAK83656,EAW71986,EAW71987,AAF12759,AAF44346,AAF06790,CAB46011,CAB51126,CAB51127,CAB51128,CAB51129 Hs.655393 AIRM1|CD328|CDw328|D-siglec|QA79|SIGLEC-7|p75|p75/AIRM1 AIRM-1|QA79 membrane protein|adhesion inhibitory receptor molecule 1, siglec-7|sialic acid binding immunoglobulin-like lectin 7|sialic acid-binding Ig-like lectin 7 protein-coding 1351533 SIGLEC8 sialic acid binding Ig-like lectin 8 1580863 15563466,10625619,19458105,19178537,18558361,18036650,17690326,16344560,16157303,15489334,12609831,12477932,11284738,11095983,10856141,20087405,20237496 27181 NM_014442,AC020914,AF287892,CH471135,AF195092,AF223403,AF310234,AK290149,AK290412,AK295589,BC053319,DA388103 NP_055257,AAG00573,EAW72018,EAW72019,EAW72020,AAF27622,AAF34702,AAK55140,BAF82838,BAF83101,BAG58481,AAH53319,Q9NYZ4 Hs.447899 MGC59785|SAF2|SIGLEC-8|SIGLEC8L CDw329|SAF-2|sialic acid-binding Ig-like lectin 8|sialoadhesin family member 2 protein-coding 1353065 SIGLEC9 sialic acid binding Ig-like lectin 9 1580863 10801860,19196661,18558361,18325328,16828866,16732727,15827126,15557178,15292262,15057824,14693915,12975309,12477932,10903842,10801862,10652563,20497550,19295491,19542910,20237496,15342556,20971061 27180 NM_014441,AC011473,AF135027,CH471135,AB026265,AF227924,AF247180,AK297043,AK315272,AY358913,BC035365,BP305376,NM_001198558 ABM83402,NP_055256,AAG23261,AAD26428,EAW71985,BAB41100,AAF71455,AAF87223,BAG59570,AAQ89272,AAH35365,Q9Y336,NP_001185487,ABM86614 Hs.245828 CD329|CDw329|FOAP-9|OBBP-LIKE|siglec-9 OB binding protein-like|protein FOAP-9|sialic acid-binding Ig-like lectin 9|siglec-9 protein-coding 1344689 SIGLECP1 sialic acid binding Ig-like lectin, pseudogene 1 11546777 114184 NG_004728,AC011473 SIGLECP1 pseudo 1354111 SIGLECP10 sialic acid binding Ig-like lectin, pseudogene 10 11546777 114185 NG_004729,AC008750,AC020914 SIGLECP10 pseudo 1350861 SIGLECP11 sialic acid binding Ig-like lectin, pseudogene 11 11546777 114186 NG_004730,AC020914 SIGLECP11 pseudo 1347373 SIGLECP12 sialic acid binding Ig-like lectin, pseudogene 12 11546777 114187 NG_004731,AC020914 SIGLECP12 pseudo 1344594 SIGLECP13 sialic acid binding Ig-like lectin, pseudogene 13 11546777 114188 NG_004732,AC020914 SIGLECP13 pseudo 1352871 SIGLECP14 sialic acid binding Ig-like lectin, pseudogene 14 11546777 114190 NG_004734,AL162428,AL445203 SIGLECP14 pseudo 1349427 SIGLECP15 sialic acid binding Ig-like lectin, pseudogene 15 11546777 114189 NG_004733,AC007228 SIGLECP15 pseudo 1353284 SIGLECP2 sialic acid binding Ig-like lectin, pseudogene 2 11546777 114191 NG_004741,AC063977 SIGLECP2 pseudo 1354067 SIGLECP3 sialic acid binding Ig-like lectin, pseudogene 3 12477932,11943481,11546777 284367 NR_002804,AC063977,AY040545,AF161341,AK301336,BC035688,BC041072,BC050999 AAF28901,BAG62884 Hs.132045 HSPC078|SIGLECP2 pseudo 1349069 SIGLECP4 sialic acid binding Ig-like lectin, pseudogene 4 11943481,11546777 114192 NG_004735,AC063977,AY040544 SIGLECP1|SIGLECP4 pseudo 1345640 SIGLECP5 sialic acid binding Ig-like lectin, pseudogene 5 11546777 114194 NG_004736,AC063977 SIGLECP5 pseudo 1342613 SIGLECP6 sialic acid binding Ig-like lectin, pseudogene 6 11546777 114195 NG_004737,AC063977 SIGLECP6 pseudo 1350448 SIGLECP7 sialic acid binding Ig-like lectin, pseudogene 7 11546777 114197 NG_004739,AC063977 SIGLECP7 pseudo 1353041 SIGLECP8 sialic acid binding Ig-like lectin, pseudogene 8 11546777 114196 NG_004738,AC063977 SIGLECP8 pseudo 1343547 SIGLECP9 sialic acid binding Ig-like lectin, pseudogene 9 11546777 114198 NG_004740,AC008750,AC020914 SIGLECP9 pseudo 68519 SIGMAR1 sigma non-opioid intracellular receptor 1 This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 8954936,19439245,19279232,19204726,18539593,17961544,17457031,17419803,16954606,16945406,16472803,16388898,16319298,15542696,15489334,15298647,15164053,14706429,14702039,14567761,12477932,11687279,11476895,11149946,10406945,10087012,9453537,9373149,9341151,8125298,20562859,18583979,20053954,20178807,20468064,21031579 10280 CR596218,NM_005866,AF001975,AF001976,AF001977,AL450283,CH471071,AF226604,AK098451,AK130502,AK222899,AK291092,AK299130,AY633611,BC004899,BC006307,BC007839,BC010104,CR457075,CR590434,CR591652,CR592515,CR592762,CR593685,CR593849,CR594423,CR595153,NM_147157,CR602297,CR603042,CR604206,CR604448,CR606455,CR606713,CR608230,CR608948,CR609235,CR611273,CR611989,CR619527,CR622156,CR624845,CR625524,DQ644568,DQ647702,DQ656583,U75283,U79528,CR598930 NP_671513,NP_005857,AAC04507,CAI14184,CAI14185,CAM19773,EAW58431,EAW58434,EAW58435,EAW58436,AAF64280,BAC05307,BAD96619,BAF83781,BAG61183,AAV33304,AAH04899,AAH07839,CAG33356,ABG29111,ABG36559,ABG46369,AAB50402,AAB51238,Q5T1J1,Q99720,ABM83807,ABM87129 Hs.522087 FLJ25585|MGC3851|OPRS1|SR-BP1|SRBP OTTHUMP00000021287|SIG-1R|SR-BP|SR31747 binding protein 1|SR31747-binding protein|aging-associated gene 8 protein|hSigmaR1|opioid receptor, sigma 1|sigma 1-type opioid receptor|sigma non-opioid intracellular receptor 1|sigma1 receptor|sigma1-receptor|sigma1R|type I sigma receptor protein-coding 69451 SIK1 salt-inducible kinase 1 1580863 18725536,14976552,16306228,20223287,17939993,17565599,12477932,10830953,9920726,7893599,16341674,19622832,20379614 150094 NM_173354,AP001046,AP001047,AP001751,CH471079,AB047786,AI073528,AK131076,BC038504,BM840872,CF528907 NP_775490,BAA95536,EAX09495,EAX09496,BAD74070,BAC85126,AAH38504,P57059,ABM83392,ABM86605 Hs.282113,Hs.700423 MSK|SIK|SNF1LK SIK-1|SNF1-like kinase|myocardial SNF1-like kinase|salt-inducible protein kinase 1|serine/threonine protein kinase|serine/threonine-protein kinase SIK1|serine/threonine-protein kinase SNF1-like kinase 1|serine/threonine-protein kinase SNF1LK protein-coding 1346987 SIK2 salt-inducible kinase 2 1580863 18029348,20379614,14702039,14976552,15511237,15489334,15454081,15067358,12624099,12477932,12168954,11230166,9872452,8889548,14532992,20367563,16712791,20708153 23235 EF445030,NM_015191,AP000925,CH471065,AB018324,AB084424,AB096248,AK000396,AK096463,AK291233,AL136764,BC013612,BC078150,BC113459,BC117183,BM799630,BM982514,CB124295,CR611247 ACA06072,NP_056006,EAW67146,EAW67147,EAW67148,EAW67149,BAA34501,BAB91442,BAF83922,CAB66698,AAH13612,AAH78150,AAI13460,AAI17184,Q9H0K1 Hs.269128 DKFZp434K1115|KIAA0781|LOH11CR1I|QIK|SNF1LK2 SIK-2|SNF1-like kinase 2|qin-induced kinase|salt-inducible protein kinase 2|salt-inducible serine/threonine kinase 2|serine/threonine-protein kinase SIK2|serine/threonine-protein kinase SNF1-like kinase 2 protein-coding 1602207 SIKE suppressor of IKK epsilon SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM] 16344560,16281057,12477932,9373149,8125298,18782753,18029348 80143 NM_001102396,NM_025073,AL096773,CH471122,AI039175,AK024821,AK126316,AK225734,BC005934,CR749219,CR936771,DA950119 NP_001095866,NP_079349,CAI18822,CAI18823,CAI18824,EAW56620,BAB15020,AAH05934,CAH18076,Q9BRV8,ACE87033 Hs.709277 DKFZp686A0768|FLJ21168|RP5-1000E10.4|SIKE suppressor of IKBKE 1|suppressor of IKK epsilon|suppressor of IKK-epsilon protein-coding 1605350 SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 18285827,17026626,16303743,16282978,16282977,15489334,15231748,14512967,12975309,12477932,12356756,2791656,11101517,19471582,18395226,16712791,20430899,20111056 64374 NM_001037633,NG_008112,AC008614,AC011378,AC011405,CH471062,CQ783256,AF547994,AJ299442,AK074624,AK075177,AY358950,BC011568,BI561751,CA415266,CB125000,CD369479,CR592997,CR593084,CR595005,CR601222,CR603663,CR604859,CR605638,CR607641,CR611503,NM_022464,CR615501,CR617127,CR617163,CR617944,CR618119,CR621434,DQ059315,DQ173771,DQ173772,CR614372 NP_071909,NP_001032722,EAW62120,EAW62121,CAF86460,AAN84477,CAC17773,BAC11096,BAC11452,AAQ89309,AAH11568,AAY89591,ABA60425,ABA60426,Q9H173,ABW03779,ABW03472 Hs.483521 BAP|MSS|ULG5 BiP-associated protein|OTTHUMP00000223768|nucleotide exchange factor SIL1 protein-coding 1316751 SILV silver homolog (mouse) 1580863 18029348,8179825,19047044,19017974,18563784,18552823,18463683,18337837,18181974,17991747,17625594,17303571,17081065,16760433,16704461,16682408,16516837,15695812,15489334,15096515,15001714,14702039,14632201,12925214,12819038,12732614,12643545,12477932,12135425,11694580,11549113,11266471,10504440,9743519,9586889,9222283,9176405,8739560,8617263,8592076,8022805,7519602,2255914,1924386,1922059,16492709,19666488,19840945,19884326,20231267,16344560 6490 NG_028086,NM_006928,AC025162,CH471054,U20093,U31799,U31807,AK092881,AK130180,AK300150,BC001414,BT007202,CA432578,M32295,M77348,S73003,U01874,DA035117,DA633173,NM_001200053,NM_001200054,U31797 ABW03637,P40967,NP_008859,EAW96852,EAW96853,EAW96854,EAW96855,AAB19181,AAB00386,BAG52619,BAH13223,AAH01414,AAP35866,AAA35930,AAA60121,AAC60634,AAA18479,NP_001186982,NP_001186983 Hs.95972 D12S53E|ME20|ME20-M|ME20M|P1|P100|PMEL|PMEL17|SI|SIL|SILV|gp100 ME20-M|ME20M|Melanocyte protein mel 17|P1|P100|Pmel 17|Silver, mouse, homolog of|melanocyte protein Pmel 17|melanocyte protein mel 17|melanocytes lineage-specific antigen GP100|melanoma-associated ME20 antigen|melanosomal matrix protein17|silver (mouse homolog)-like|silver homolog|silver locus protein homolog|silver, mouse, homolog of protein-coding 1320567 SIM1 single-minded homolog 1 (Drosophila) SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq] 1580863,1624165 14574404,12477932,12161602,11782478,11448938,11076863,10587584,20734064,14697214,9020169,8812055,9199934,18029348,19401419,19054571,16924270,16709610,14988267,20075856,20220015 1624165 6492 NM_005068,NG_008230,AL121948,CH471051,Z86062,AK308090,U70212 NP_005059,CAI20423,EAW48451,CAI19455,AAB62395,P81133,AAI11932,AAI18501 Hs.520293 bHLHe14 OTTHUMP00000016902|class E basic helix-loop-helix protein 14|single-minded homolog 1 2289234,2289252 BW142_H,BW141_H protein-coding 1317540 SIM2 single-minded homolog 2 (Drosophila) SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. The Drosophila sim gene encodes a transcription factor that is a master regulator of fruit fly neurogenesis. SIM2 maps within the so-called Down syndrome chromosomal region. Based on the mapping position, its potential function as transcriptional repressor and similarity to Drosophila sim, it is proposed that SIM2 may contribute to some specific Down syndrome phenotypes [provided by RefSeq] 1580863 12477932,11782478,11404025,10830953,10400987,9503011,9271372,9020169,8905236,8812055,7647800,7568099,7485157,18029348,12530058,8661114,9199934,19169276,18160708,16840439,16129820,15963499,15946822,14701734,14697214,14550949,12676991,19668230,19737960,20137643 6493 NM_005069,NM_009586,AB003185,AP000697,CH471079,D44444,D44445,D44446,D44447,D44448,D70838,D85922,AI625864,AJ001858,AJ001859,BC110444,U80456,U80457,X84790 NP_005060,NP_033664,BAA21489,BAA21490,BAA89433,EAX09737,EAX09738,BAA07906,BAA07907,BAA07908,BAA07909,BAA07910,BAA11108,BAA12919,CAA05055,AAI10445,AAB62396,AAB62397,CAA59261,Q14190 Hs.146186 MGC119447|SIM|bHLHe15 OTTHUMP00000109044|class E basic helix-loop-helix protein 15|single-minded homolog 2|single-minded homolog 2, short isoform|transcription factor SIM2 protein-coding 1323140 SIN3A SIN3 homolog A, transcription regulator (yeast) The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq] 1580863 15509555,15489334,15467743,15451426,15345747,15314177,15302935,15235594,14749338,14702039,14647463,14559791,14525983,12943729,12724404,12670868,12634383,12612053,12590135,12527908,12493763,12477932,12466959,12398767,12391155,12242670,12150998,12124384,12091390,12036432,12015313,12007404,12006497,11909966,11897684,11882901,11719366,11486045,11441023,11438660,11430826,11416139,11390640,11359905,11283269,18505829,18372343,18316480,17854949,17209038,17081983,16805913,16344560,16166625,15684083,14559996,14612411,16505006,16776654,16800816,16820529,17011572,17074803,19454010,20920219,20547842,11259580,11238380,11150306,11118440,11106735,11102443,11013263,10950960,10944117,10933397,10823891,10773092,10766745,10688671,10640276,10444591,10441327,10357820,9804427,9790534,9765306,9627120,9184233,9150135,9150134,9150133,8889548,8521822,7889570,7601471,10431247,10207062,11784859,9702189,9651585,11959865,12920132,12374985,11931768,10640275,10220385,9520398,10644367,15199122,15148359,15456747,15333839,15729358,11000236,9486654,11171972,17210713,19081374,19144721,19235719,19244234,20676127,14593184,14966270,15322089,15899845,16254079,16331260,16387653,16449650,16728974,17255935,17827154,18156491,18585351,19339282,19509248,19620290,19641626,20126307,20189936,9620779,9620804 25942 NM_001145357,NM_001145358,NM_015477,AC068338,AC105137,CH471136,AF418569,AK027559,AK074800,AK074903,AK096477,AL117513,AL832463,AY044430,BC018973,BC030563,BC041047,BC052275,BC066364,BC137098,BC137099,BM676304,BX649162,CR602001,CR618709,DB074084 NP_001138829,NP_001138830,NP_056292,EAW99249,EAW99250,EAW99251,AAP97288,BAB55197,BAG52005,BAC11280,BAC04801,CAB55972,AAK95854,AAH18973,AAI37099,AAI37100,Q96ST3 Hs.513039 DKFZp434K2235|FLJ90319|KIAA0700 histone deacetylase complex subunit Sin3a|paired amphipathic helix protein Sin3a|transcriptional co-repressor Sin3A|transcriptional corepressor Sin3a|transcriptional regulator, SIN3A protein-coding 1348412 SIN3B SIN3 homolog B, transcription regulator (yeast) 1580863 12670868,18586123,18205948,16464847,16166625,15489334,15467743,14702039,12590135,12477932,12398767,12015313,11959842,11909966,11370785,11101889,10570134,10357820,9734811,9627120,7889570,10444591,19913121,20628086,20547842,16197452,19654306,20170641,9620779,14559996,16449650,21041482 23309 BC063531,BC110821,CR597022,CR619281,NM_015260,AC008737,CH471106,AB014600,AK001633,AK295618,AK311023,AY706204,BC005113,BC025026 AAH63531,AAI10822,O75182,AAI72412,NP_056075,EAW84564,EAW84565,BAA31675,BAH12128,AAU01916,AAH05113,AAH25026 Hs.13999 KIAA0700 SIN3 homolog B, transcriptional regulator|histone deacetylase complex subunit Sin3b|paired amphipathic helix protein Sin3b|transcriptional corepressor Sin3b protein-coding 1351557 SIP1 survival of motor neuron protein interacting protein 1 1580863 9323129,11714716,15130578,9323130,10531003,18247312,17308308,16731905,15964810,15489334,14697339,12477932,12065586,11943600,11748230,11713266,11522829,11389857,11181573,11149922,11135666,11092763,10942426,10909848,10725331,10601333,9447963,9295360,11509230,12668731,17353931,12714599,19830559,20098747,20515682,11914277,19381684,19806322,19915660 8487 NM_001009183,NM_001009182,AJ250932,AJ250939,AL109628,CH471078,AB037701,AB037702,AB037703,AF027150,AK313947,BC028095,BC104968,NM_003616,CN484054,NG_016643 NP_003607,NP_001009183,NP_001009182,CAC16117,CAC16171,EAW65825,EAW65826,EAW65827,EAW65828,EAW65829,EAW65830,BAB03508,BAB03509,BAB03510,AAB82297,BAG36665,AAI04969,O14893,Q9H4F4 Hs.652307 GEMIN2|SIP1-delta SMN interacting protein 1-delta|component of gems 2|gemin-2|survival of motor neuron protein-interacting protein 1 protein-coding 1346963 SIPA1 signal-induced proliferation-associated 1 The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq] 1580863,2312656 9346962,12059963,10373454,7799964,9183624,19124506,19089925,18492118,18033671,17081983,16563182,15489334,15456879,12590145,12477932,12091396,11461903,9651531,9027487,8889548,19913121,20628086,19765277,19773279,19825179,19906411 2312656 6494 NM_006747,NM_153253,AF052232,AF052233,AF052237,AF052238,AP001362,CH471076,AB005666,AF029789,AI307277,AK303551,AK308234,AK310068,BC010492,BC110353,BM677738,DN999403 NP_006738,NP_694985,AAC32559,EAW74421,EAW74422,EAW74423,BAA22197,AAC32547,BAG64575,AAH10492,AAI10354,Q96FS4 Hs.530477 MGC102688|MGC17037|SPA1 GTPase-activating protein Spa-1|p130 SPA-1|signal-induced proliferation-associated gene 1|signal-induced proliferation-associated protein 1|sipa-1 protein-coding 733053 SIPA1L1 signal-induced proliferation-associated 1 like 1 1580863 19615732,18029348,17081983,16999984,15588942,15302935,14702039,12508121,12477932,12421765,12168954,11502259,9858596,9455477,15778465,21076409 26037 NM_015556,AC004900,AC004968,AC004974,CH471061,AB007900,AF090989,AF090990,AK122930,AK302650,BC146777,CR612092,CR936651 NP_056371,AAC83179,EAW81058,EAW81059,EAW81060,BAA23712,AAD12543,AAD12544,BAG63889,AAI46778,CAI56789,O43166,Q5CZ77 Hs.654657 DKFZp686G1344|E6TP1|KIAA0440 E6-targeted protein 1|H_DJ1140G11.1|SIPA1-like protein 1|WUGSC:H_DJ1140G11.1|high-risk human papilloma viruses E6 oncoproteins targeted protein 1|signal-induced proliferation-associated 1-like 1|signal-induced proliferation-associated 1-like protein 1|spa-1 like protein p1294 protein-coding 1314792 SIPA1L2 signal-induced proliferation-associated 1 like 2 1580863 16710414,15570572,15489334,15146197,14702039,12477932,10718198,8889548,20694011,20379614,20602751 57568 NM_020808,AL157409,AL356965,CH471098,AB037810,AK022852,AK026779,AK074212,AK093191,AY168879,BC006013,BC013119,BC082251,BC150334,CB242802,CN425351 NP_065859,CAI22919,CAI22920,CAH73408,CAH73409,EAW69971,EAW69972,BAA92627,BAB14273,BAC04090,AAO12530,AAH13119,AAH82251,AAI50335,Q9P2F8 Hs.726311 FLJ23126|FLJ23632|KIAA1389|SPAL2 OTTHUMP00000035939|SIPA1-like protein 2|SPA-1-like 2|signal-induced proliferation-associated 1-like protein 2 protein-coding 1322892 SIPA1L3 signal-induced proliferation-associated 1 like 3 1580863 15592455,12477932,12168954,9628581,15778465,20379614 23094 NM_015073,AC008395,AC011465,AC011479,AC016582,AC098790,CH471126,AB011117,AY168880,BC036863,BC150620,BM193478 NP_055888,EAW56758,BAA25471,AAO12531,AAH36863,AAI50621,O60292,Q8IUV1 Hs.655502 SPAL3 SIPA1-like protein 3|SPA-1-like 3|SPA-1-like protein 3|signal-induced proliferation-associated 1-like protein 3 protein-coding 736759 SIRPA signal-regulatory protein alpha The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq] 1580863 20299253,20826801,9062191,9070220,16691243,19165527,18954403,18855618,18820737,18647419,18051954,17954568,17632076,17360380,17178844,17142753,17098740,17070842,16825188,16697668,16344560,16339511,16335952,16291597,16189514,15888547,15842360,15489334,15374953,15359629,14729615,14662855,12805067,12483539,12477932,11907074,11792697,11780052,11509594,10962556,10842184,10660565,10585853,10572074,10469599,10098842,9872987,9712903,9632768,9485180,9271230,8943344,8810330,8525433,10660620,20473329,19299420,19628875,19748659,19820697,19874234,20207740,20643654 140885 NM_001040022,NM_080792,NM_001040023,AL034562,AL117335,CH471133,AB023430,AK290776,AK298243,AK312521,BC026692,BC033092,BC038510,BC075849,CR602336,D86043,DA471662,DN989886,U06681,U06701,Y10375,Y11047 NP_001035111,NP_542970,NP_001035112,CAB38874,CAC12723,EAX10606,EAX10607,EAX10608,EAX10609,EAX10610,EAX10611,BAA87929,BAF83465,BAG60509,BAG35420,AAH26692,AAH33092,AAH38510,AAH75849,BAA12974,CAA71403,CAA71944,P78324,ABM82577 Hs.728158 BIT|CD172A|MFR|MYD-1|P84|PTPNS1|SHPS-1|SHPS1|SIRP|SIRP-ALPHA-1|SIRPalpha|SIRPalpha2 CD172 antigen-like family member A|brain-immunoglobulin-like molecule with tyrosine-based activation motifs|inhibitory receptor SHPS-1|macrophage fusion receptor|myd-1 antigen|protein tyrosine phosphatase, non-receptor type substrate 1|tyrosine phosphatase SHP substrate 1|tyrosine-protein phosphatase non-receptor type substrate 1 protein-coding 1347883 SIRPB1 signal-regulatory protein beta 1 The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9062191,19165527,19034380,16344560,16339511,16335952,16081415,15489334,15342556,12477932,12415263,11780052,10940905,10604985,19893026,17207965 10326 NM_001083910,NM_006065,NM_001135844,AL049634,AL138804,AL592544,CH471133,AK130124,AK289866,BC025286,BC075835,BC131747,BM010247,BP268958,BP295274,BX537992,DA331023,DA761891,Y10376 NP_001077379,NP_006056,NP_001129316,CAI21864,CAI21865,CAI21866,CAI21700,EAX10620,EAX10621,EAX10622,BAF82555,AAH25286,AAH75835,AAI31748,CAD97951,CAA71404,O00241,Q5TFQ8,AAI56610,ADQ32572 Hs.664861 CD172b|DKFZp686A05192|FLJ26614|SIRP-BETA-1 CD172 antigen-like family member B|signal-regulatory protein beta-1 protein-coding 1320248 SIRPB2 signal-regulatory protein beta 2 17178844,16339511,14702039,12213963 284759 AK294440,NM_001122962,NM_001134836,AL109658,CH471133,AK095499,AK297072,AY424277,BG539998,BM285394,BQ635335,DC313096,DC358609,DN998473 BAH11767,NP_001116434,NP_001128308,CAI22734,CAI22735,EAX10626,BAG53072,BAG59591,AAR04783,Q5JXA8,Q5JXA9 Hs.721685 PTPN1L|PTPNS1L3|dJ776F14.2 OTTHUMP00000029985|SIRP-beta-2|protein tyrosine phosphatase non-receptor type substrate 1-like 3|protein tyrosine phosphatase non-receptor type substrate protein|protein tyrosine phosphatase, non-receptor type 1-like|protein tyrosine phosphatase, non-receptor type substrate 1-like 3|signal-regulatory protein beta-2 protein-coding 1353362 SIRPD signal-regulatory protein delta 16339511,15489334,14702039,12477932,11780052,16344560 128646 CH471133,NM_178460,AL049634,AK093083,BC033502,DA466740 NP_848555,CAI21867,CAI21868,CAI21869,EAX10623,EAX10624,BAG52650,AAH33502,Q5TFQ5,Q9H106,ABM82223,ABW03378 Hs.664861 PTPNS1L2|dJ576H24.4 OTTHUMP00000029991|SIRP-delta|protein tyrosine phosphatase non-receptor type substrate 1-like 2|protein tyrosine phosphatase, non-receptor type substrate 1-like 2|signal-regulatory protein delta protein-coding 1604807 SIRPG signal-regulatory protein gamma The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 15383453,9062191,16691243,18524990,16344560,16339511,15489334,15294972,12477932,11780052,11185750,17207965,19430480,19473566 55423 NM_080816,NM_001039508,NM_018556,AL109809,AL138804,CH471133,AA446468,AB042624,AK124224,AK292745,AY748247,AY748248,BC020629,BC064532,DA008008,DB046293 NP_543006,NP_001034597,NP_061026,CAM28283,CAM28284,CAM28285,EAX10615,EAX10616,EAX10617,EAX10618,BAA95692,BAF85434,AAV88530,AAV88531,AAH20629,AAH64532,Q9P1W8,ADQ32580 Hs.590883 CD172g|FLJ42230|SIRP-B2|SIRPB2|SIRPgamma|bA77C3.1 CD172 antigen-like family member B|CD172g antigen|OTTHUMP00000029998|OTTHUMP00000185041|SIRP beta 2|SIRP-beta-2|SIRP-gamma|signal-regulatory protein beta 2|signal-regulatory protein beta-2|signal-regulatory protein gamma protein-coding 1318374 SIRT1 sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580423,2316155 20160399,20631301,20633545,20555380,16998474,18823944,18829436,18922603,19491102,19553684,20977650,18296641,18235502,18235501,18230337,18184747,18174544,17996922,17964266,17937892,17934453,17916362,17901049,17895433,17806102,17785417,17680780,17638871,17624472,17612497,17601350,17581637,17516504,17505061,17373700,17334224,17283066,17213307,17180656,17112576,17099246,17081983,17041012,16998810,16964243,16923962,16892051,16751189,16628003,16354677,16344560,16328012,16288004,16257164,16207712,16183991,16166628,15749705,15719057,15692560,15640142,15639232,15632193,15489334,15302935,15205477,15164054,15152190,15126506,14980222,14976264,14702039,12939617,12930829,12535671,12477932,12413881,12297502,11672522,11230166,10873683,10381378,17936707,15175761,20941378,20225204,20488443,20689156,20972425,20421294,20439735,20217115,20813124,20493163,18329615,15780941,17456799,16959573,18203716,15469825,11672523,17317627,12006491,18029348,19643082,19555662,19498162,19404850,19364925,19343720,19286634,19285077,19236849,19229036,19188449,19167483,19166820,19149601,19132007,19104446,19075016,19071085,19060927,19017485,19014491,19008647,18977241,18957417,18850005,18838864,18835033,18834855,18829956,18821472,18820948,18774777,18755897,18724249,18723829,18704159,18689793,18687677,18660489,18636124,18573234,18563176,18556572,18485895,18482975,18438697,18414679,19267881,20506278,20668706,20733005,19218236,19244234,19934257,20702418,20817729,20668205,20670893,20412117,20448046,20617556,20620956,20627091,20157519,20463039,20479254,15744310,16079181,16269335,16385451,17172643,18485871,18662546,18662547,19220062,19289152,19376817,19377286,19430421,19433578,19478080,19509139,19578370,19581416,19615732,19649206,19680556,19690166,19713122,19714620,19716821,19720090,19741164,19786632,19819989,19887452,19895790,19923004,19934264,19995796,19996091,20027304,20041875,20060806,20068143,20071779,20089851,20100829,20102704,20103737,20107110,20131294,20167603,20203304,20335544,20379614,20451257,20503258,18004385,21067862 1580423,2316155 23411 NM_012238,NM_001142498,AL133551,CH471083,CS330050,DQ278604,AA452304,AF083106,AF235040,AK027686,AK074805,AK289743,AL136741,BC012499,BX648554,DB162635,CS417193,CS545584,GM718527 NP_036370,NP_001135970,CAI16036,EAW54258,EAW54259,CAL00153,ABB72675,AAD40849,AAG38486,BAG51365,BAG52006,BAF82432,AAH12499,Q96EB6,CAL48196,CAN36290,CAV28860 Hs.369779 SIR2L1 NAD-dependent deacetylase sirtuin-1|OTTHUMP00000198111|OTTHUMP00000198112|SIR2-like protein 1|SIR2alpha|hSIR2|hSIRT1|sir2-like 1|sirtuin|sirtuin type 1 protein-coding 733995 SIRT2 sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two transcript variants result from alternative splicing of this gene. [provided by RefSeq] 16344560,17456799,12697818,12887892,12620231,15126506,11427894,10381378,19282667,18995842,18722353,18332217,18249187,18249170,17708669,17516032,16909107,16648462,16565078,16247014,16211212,15489334,15328540,15274642,15213244,14702039,12963026,12477932,11812793,11483616,10931946,10873683,10393250,9373149,9110174,8619474,8125298,17353931,20237298,20543840,16079181,17172643,17726514,20159555,20378838,14522900,19801601 22933 AK092940,AK094810,BF346568,BF529906,DA541045,DA705079,NM_001193286,NR_034146,NM_012237,AC011455,CH471126,CS072425,CS330052,CS330054,AB009274,AF083107,AF095714,AF131800,AF160214,AJ505014,AK025876,AK054642,AK131390,AK225824,AK290716,NM_030593,AK314492,AY030277,BC003012,BC003547,CR591051,CR593149,CR598693,CR600814,CR613201,CR617711,CR623364,CR624230,CS417195,CS417197,CS545586,CS545588 NP_001180215,NP_036369,NP_085096,EAW56833,EAW56834,EAW56835,EAW56836,EAW56837,EAW56838,CAI93563,CAL00154,CAL00155,BAF76655,AAD40850,AAD45971,AAD20046,AAF67015,CAD43717,BAF83405,BAG37092,AAK51133,AAH03012,AAH03547,Q8IXJ6,ABZ92537,CAL48197,CAL48198,CAN36291,CAN36292 Hs.466693 FLJ35621|FLJ37491|SIR2|SIR2L|SIR2L2 NAD-dependent deacetylase sirtuin-2|OTTHUMP00000197465|SIR2-like protein 2|silencing information regulator 2-like|silent information regulator 2|sir2-related protein type 2|sirtuin|sirtuin 2 (silent mating type information regulation 2, homolog) 2 (s. cerevisiae)|sirtuin type 2 protein-coding 1318106 SIRT3 sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq] 20463968,18215119,17957139,17437997,17059877,16189514,15676284,15489334,12477932,12374852,18710944,18680753,12186850,11056054,10873683,8889548,20661474,19209188,10381378,18781224,19343720,19367319,19240061,16079181,16169070,16788062,17456799,19535340,19680556,19714312,20129246,20132432,20159966,20198340,20800603,20819778,20877624 23410 NM_012239,NM_001017524,AC069287,AC136475,AF015416,CH471278,CS330056,CS330058,U73637,AA279020,AF083108,AI091200,AK074992,AK298572,AK299009,AK299438,AK301558,AK301979,AK308681,AK316175,AL137276,AL535769,BC001042,BI755839,BM709066,BM973763,CR592147,CR598105,CR618015,CR624703,DR762907,CS417199,CS545590 NP_036371,NP_001017524,EAW61239,EAW61240,EAW61241,EAW61242,EAW61243,CAL00156,CAL00157,AAD40851,BAH12816,BAH12927,BAH13032,BAH13513,BAH14546,CAB70674,AAH01042,Q9NTG7,BAH13600,CAL48199,CAN36293 Hs.716456 SIR2L3 NAD-dependent deacetylase sirtuin-3, mitochondrial|SIR2-like protein 3|hSIRT3|mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase|silent mating type information regulation 2, S.cerevisiae, homolog 3|sir2-like 3|sirtuin|sirtuin type 3 protein-coding 1321303 SIRT4 sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq] 16079181,17456799,15342556,16959573,10381378,19209188,17715127,16541075,15489334,15122253,12477932,10873683,9847074 23409 BP232525,NM_012240,AC003982,CH471054,CS330060,AF083109,BC034736,BC109319,BC109320,CS417201,CS545592 NP_036372,AAB95634,EAW98182,EAW98183,CAL00158,AAD40852,AAI09320,AAI09321,Q9Y6E7,CAL48200,CAN36294 Hs.50861 MGC130046|MGC130047|MGC57437|SIR2L4 NAD-dependent ADP-ribosyltransferase sirtuin-4|SIR2-like protein 4|sir2-like 4|sirtuin|sirtuin type 4 protein-coding 1351920 SIRT5 sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq] 11256614,16079181,17456799,14574404,11076863,10381378,18680753,16827919,16484774,16381901,15489336,15489334,14702039,12477932,10873683,19135889,18029348,20800603,20877624 23408 NM_001193267,NM_031244,NM_012241,AL441883,CH471087,CS330062,CS330064,AF083110,AI969140,AJ420496,AK000355,AK094269,AK294162,AK302467,BC000126,BC035122,BC035196,BX538030,CA406695,CR595911,CR600455,CR606976,CR617335,CR619396,CR623350,DR003695,CS417203,CS417205,CS545594,CS545596 NP_001180196,NP_112534,NP_036373,CAI19837,CAI19838,EAW55332,EAW55333,EAW55334,EAW55335,EAW55336,EAW55337,EAW55338,CAL00159,CAL00160,AAD40853,BAA91107,BAG57485,BAG63757,AAH00126,CAD97975,Q7Z3A0,Q9NXA8,CAL38292,CAL48201,CAL48202,CAN36295,CAN36296 Hs.567431,Hs.594133 FLJ36950|SIR2L5 NAD-dependent deacetylase sirtuin-5|SIR2-like protein 5|silent mating type information regulation 2, S.cerevisiae, homolog 5|sir2-like 5|sirtuin|sirtuin type 5 protein-coding 1313110 SIRT6 sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq] 17456799,19135889,18388907,18337721,18242175,16189514,16169070,15489334,15057824,14702039,12477932,10873683,9373149,8125298,16079181,19625767,20157594,20829486 51548 NM_001193285,CS330066,AF233396,AK074810,AK225567,AK293348,AK299420,AK301247,AK315048,BC004218,BC005026,NM_016539,AC005620,AC006930,AC016586,CH471139,BC028220,CR457200,CR590451,CR593044,CR596220,CR600586,CR601886,CR611152,CR615004,CR618222,CR619282 NP_001180214,EAW69255,EAW69256,EAW69257,EAW69258,EAW69259,CAL00161,AAF43432,BAC11222,BAG56864,BAH13027,BAG62814,BAG37527,AAH04218,AAH05026,EAW69254,NP_057623,AAC34468,AAD15478,EAW69251,EAW69252,EAW69253,AAH28220,CAG33481,Q8N6T7,ABM87357,ABW03864 Hs.725392 SIR2L6 NAD-dependent deacetylase sirtuin-6|SIR2-like protein 6|sir2-related protein type 6|sirtuin|sirtuin type 6 protein-coding 1314170 SIRT7 sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq] 1580863 19174463,17003781,16618798,16525639,15489334,14702039,12477932,12454780,11953824,10873683,16169070,9776767,16079181 51547 NM_016538,CH471099,CS330068,AF233395,AK002027,AK094326,AK131437,AK131484,AK290265,AL137626,BC017305,BC101791,BC101793,CR600432,CR600645,CR617660,BQ890203,CD579273,AC145207,CS417209,CS545600 NP_057622,EAW89713,CAL00162,AAF43431,BAA92044,BAG52860,BAF82954,CAB70848,AAH17305,AAI01792,AAI01794,Q9HBQ4,Q9NRC8,ABM83280,ABM86487,CAL48204,CAN36298 Hs.514636 MGC126840|MGC126842|SIR2L7 NAD-dependent deacetylase sirtuin-7|SIR2-like protein 7|silent mating type information regulation 2, S.cerevisiae, homolog 7|sir2-related protein type 7|sirtuin|sirtuin type 7 protein-coding 1601761 SIT1 signaling threshold regulating transmembrane adaptor 1 11433379,10209036,19204726,16160011,16094384,15592455,15570572,15164053,15144186,12477932,11491537,15489334,7566098,11390434 27240 AJ271888,AL357874,CH471071,AA310964,AA746595,NM_014450,AJ010059,AK314758,BC102029,BC104491,BC107484,BM919490,CR617531,CR624155 CAC81313,CAI13446,EAW58370,NP_055265,CAB41504,BAG37296,AAI02030,AAI04492,AAI07485,Q9Y3P8 Hs.88012 MGC125908|MGC125909|MGC125910|RP11-331F9.5|SIT SHP2 interacting transmembrane adaptor|SHP2-interacting transmembrane adapter protein|SHP2-interacting transmembrane adaptor protein|gp30/40|signaling threshold-regulating transmembrane adapter 1|suppression inducing transmembrane adaptor 1|suppression-inducing transmembrane adapter 1 protein-coding 1603317 SIVA1 SIVA1, apoptosis-inducing factor This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq] 9177220,12011449,14739602,16683188,19392652,18849585,18330885,17965021,17653867,17348035,16491128,15958577,15489334,15105421,15034012,12478477,12477932,11920585,11601913,11278261,10756043,9373149,8125298,20727854,16169070,19293149,19590512,17207965,20934406 10572 NM_006427,NM_021709,AL583722,BK000018,CH471061,AF033111,AF401214,AK223332,AK300415,AK316550,BC034562,BU195069,CK001877,CR593834 NP_006418,NP_068355,DAA01049,EAW81877,EAW81878,EAW81879,EAW81880,AAD50057,AAL02171,BAD97052,BAG62144,BAG65628,AAH34562,O15304,Q53FF7,ADQ32443 Hs.112058 CD27BP|SIVA|Siva-1|Siva-2 CD27-binding (Siva) protein|CD27-binding protein|apoptosis regulatory protein Siva protein-coding 731648 SIX1 SIX homeobox 1 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq] 1580863 7720577,20603620,9770533,16189514,8617500,18029348,19331807,19101580,18666230,18398830,18381426,18330911,17637804,17519359,17130831,17008870,16670092,16652090,15489334,15226428,15141091,15123840,14628042,12874121,12843324,12477932,12441302,12215533,12057921,11734542,10906137,10801845,10777717,20013809,20395239,15492887,19497856,19726883,19726885,19901965,20548946 6495 NM_005982,NG_008231,AF323497,AL049874,CH471061,CS025630,BC008874,BT007083,X91868 NP_005973,AAK06772,EAW80784,EAW80785,CAI61692,AAH08874,AAP35746,CAA62974,Q15475,Q53Y16 Hs.713114 BOS3|DFNA23|TIP39 homeobox protein SIX1|sine oculis homeobox homolog 1 protein-coding 1321897 SIX2 SIX homeobox 2 This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq] 1580863 10773454,19055944,18989625,18305125,12477932,12441302,12215533,11734542,10677303,8814301,20542577 10736 NM_016932,AC012354,AF136939,AF323498,AF332198,CH471053,AF136940,AF332196,AF332197,AI299144,AI697804,BC024033,BT020100,CR595397,AC093702,NG_009360 NP_058628,AAF69031,AAK06773,AAK16583,EAX00265,AAF69032,AAK16581,AAK16582,AAH24033,AAV38903,Q8TBA2,Q9NPC8 Hs.101937 homeobox protein SIX2|sine oculis homeobox homolog 2 protein-coding 733474 SIX3 SIX homeobox 3 1599335,1599336,1580863 10369266,19353631,19346217,18836447,20531442,18791198,17666527,17576749,16323008,15635066,15523651,15221788,14973488,12543801,12477932,12441302,12050133,11554737,11173923,11069920,10490620,10415461,9889003,1887845,20634891,12107413,19921650,20057906,20157829,20201926,8889548 1599335,1599336 6496 NM_005413,AC012354,AF049339,AF083891,AF092047,CH471053,AJ012611,AL162671,BC030289,BF569811,BF570321,BM668514,CD673488,EL952320,NG_016222 NP_005404,AAX93283,AAD15753,AAD51091,AAD11939,EAX00267,EAX00268,CAB42539,CAB83141,AAH30289,O95343,Q9NSJ2,AAI53027 Hs.567336 HPE2 homeobox protein SIX3|sine oculis homeobox homolog 3 protein-coding 1315508 SIX4 SIX homeobox 4 1580863 10640827,15489334,12477932,10512683,8628654,10490620,12215533,10906137,12441302 51804 AB024687,AL132777,CH471061,AA424469,AF032107,AK308528,AK309358,BC098135,BC098282,BC099722,BC101934,NM_017420,NG_021182 NP_059116,BAA86223,EAW80786,AAF04403,AAH98135,AAH98282,AAH99722,AAI01935,Q9UIU6,Q9UL97,ABZ92148,ABZ92373 Hs.97849,Hs.690393 AREC3|MGC119450|MGC119452|MGC119453 homeobox protein SIX4|sine oculis homeobox homolog 4 protein-coding 1312832 SIX5 SIX homeobox 5 The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq] 1580863 16713569,17357085,15489334,14702039,12500905,12477932,11978764,10823141,10756185,10490620,9949207,9817928,9241282,8595416,11748221,19851296,20198315 147912 NG_012745,AC074212,CH471126,X84813,AK074826,AL540911,BC033204,BC084563,NM_175875,BU859227,CR597997 EAW57379,AAH33204,NP_787071,Q8N196,AAI56209,AAI56984 Hs.43314,Hs.635370 BOR2|DMAHP DM locus-associated homeodomain protein|dystrophia myotonica-associated homeodomain protein|homeobox protein SIX5|sine oculis homeobox homolog 5 protein-coding 1321431 SIX6 SIX homeobox 6 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq] 1580863 10512683,18029348,18293925,15505031,15266624,12477932,12441302,11493467,10381575,18666230,20057906,20211142,20881960 4990 NM_007374,NG_008203,AB041399,AF031648,AF141651,AL049874,CH471061,AJ011785,BC065831,BC069413,BC087852,CR593154,CR594317,CR598634,CR605575,CR609464 NP_031400,BAA94484,AAF04402,AAD49844,EAW80782,CAA09773,AAH65831,AAH69413,AAH87852,O95475,Q5M8S8,Q6P051,ABZ92173 Hs.194756 MCOPCT2|OPTX2|Six9 homeobox protein SIX6|homeodomain protein OPTX2|optic homeobox 2|sine oculis homeobox homolog 6 protein-coding 1346541 SJS1 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) 8541852,9279765 347680 1321886 SKA1 spindle and kinetochore associated complex subunit 1 737633 19289083,17093495,16189514,15561729,15489334,15146197,12477932 737633 220134 NM_001039535,NM_145060,AC105227,CH471096,AK303464,AK313968,BC005972,BC015606,BC015706,BG493245,BM470268,BQ069178,BU659790,BX956145,CN403719,AC013759 NP_001034624,NP_659497,EAW62971,EAW62972,EAW62973,BAG64506,BAG36683,AAH15706,Q96BD8 Hs.134726 C18orf24|MGC10200 spindle and KT (kinetochore) associated 1|spindle and kinetochore-associated protein 1 protein-coding 1316064 SKA2 spindle and kinetochore associated complex subunit 2 737633 19289083,17093495,18583474,16344560,15489334,14702039,12477932,17207965,20470754 737633 348235 NM_001100595,NM_182620,AC099850,CH471109,AK022820,AK056473,BC017873,BC106003,BQ019350,CR605288,CR615257,DA133216,DB158057,FJ648812 NP_001094065,NP_872426,EAW94420,EAW94421,EAW94422,EAW94423,BAG51725,AAH17873,AAI06004,ACN41865,Q8WVK7,ADQ32261 Hs.463607 FAM33A|FLJ12758|MGC110975 family with sequence similarity 33, member A|spindle and KT (kinetochore) associated 2|spindle and kinetochore-associated protein 2 protein-coding 1351570 SKA2L spindle and kinetochore associated complex subunit 2-like 15164053 729012 AC006313,NG_027505 P0CB44 Em:AC006313.1|FAM33B family with sequence similarity 33, member B|spindle and kinetochore associated complex subunit 2-like pseudo 1316254 SKA3 spindle and kinetochore associated complex subunit 3 19458608,19549680,19289083,19646878,19387489,19360002,16565220,15592455,15489334,15144186,15057823,14702039,12477932,17207965 221150 NM_001166017,NM_145061,AL158032,CH471075,AF361358,AK090584,AK307976,AK314864,BC013418,BC048988,BI460315,CR603666,CR625062 NP_001159489,NP_659498,CAH69950,CAM13059,CAM13060,EAX08293,EAX08294,EAX08295,AAO13796,BAC03484,BAG37379,AAH13418,AAH48988,Q8IX90,ADQ32474 Hs.88523 C13orf3|MGC4832|RAMA1 OTTHUMP00000018108|spindle and kinetochore-associated protein 3 protein-coding 1354438 SKAP1 src kinase associated phosphoprotein 1 This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq] 1580863 18029348,9195899,17658605,16980616,16461356,15939789,15849195,15489334,12652296,12477932,12171928,11909961,10856234,10358754,9837776,9748251,9671755,9232446,19667759,19798671,20346707,20379614,20852632 8631 NM_003726,NM_001075099,AC006468,AC027152,AC036222,AC090627,CH471109,AK290818,BC039040,BC047870,DR007155,Y11215 NP_003717,NP_001068567,EAW94747,EAW94748,EAW94749,EAW94750,EAW94751,BAF83507,AAH47870,CAA72101,Q86WV1 Hs.316931 SCAP1|SKAP55 SKAP-55|pp55|src family associated phosphoprotein 1|src family-associated phosphoprotein 1|src kinase-associated phosphoprotein 1|src kinase-associated phosphoprotein of 55 kDa protein-coding 1345057 SKAP2 src kinase associated phosphoprotein 2 The protein encoded by this gene belongs to the src family kinases. This protein is similar to the src kinase associated phosphoprotein 1. It is an adaptor protein that is thought to play an essential role in the src signaling pathway in various cells. It inhibits PTK2B/RAFTK activity and regulates alpha-synuclein phosphorylation. [provided by RefSeq] 1580863 9671755,9837776,11390434,17952125,17081983,15761153,15489334,15166227,12893833,12853948,12690205,12477932,11301322,11063873,10942756,10527689,9755858,9373149,8125298,19430480,19807924,20378605,10469599,19913121,20628086 8935 NM_003930,AC003999,AC011299,CH236948,CH471073,AB014486,AF051323,AF072166,AF174049,AJ004886,AK222885,AK299216,AK299317,AK311454,AK313209,BC002893,BC036044,BI547092,BI826753 NP_003921,AAS02033,AAS07536,EAL24231,EAW93858,EAW93859,EAW93860,BAA36194,AAC99296,AAC39924,AAD53795,CAA06193,BAD96605,BAH12970,BAH12999,BAG36025,AAH02893,AAH36044,O75563,ABM83822,ABM87143 Hs.200770,Hs.610137 MGC10411|MGC33304|PRAP|RA70|SAPS|SCAP2|SKAP-HOM|SKAP55R Fyn-associated phosphoprotein SKAP55 homologue|Pyk2/RAFTK-associated protein|SKAP-55HOM|SKAP55 homolog|retinoic acid-induced protein 70|src family associated phosphoprotein 2|src family-associated phosphoprotein 2|src kinase-associated phosphoprotein 2|src kinase-associated phosphoprotein 55-related protein|src kinase-associated phosphoprotein of 55-related protein|src-associated adapter protein with PH and SH3 domains|src-associated adaptor protein protein-coding 1342955 SKI v-ski sarcoma viral oncogene homolog (avian) 1580863 20572854,20634891,20672350,14525983,15621726,10549282,11121043,19341714,19112531,19096149,19049980,19032343,18782659,18508800,18451154,18261624,17621263,17592292,17469184,17054724,16710414,16424870,16327884,16054854,15806149,15542823,15312649,15231748,15128733,15122324,15107821,14712482,14583455,12874272,12857746,12793438,12764135,12435627,12419246,12034730,11719430,11522815,11441023,11430826,10823891,10575014,10485843,9927733,9569025,9380514,8514802,8233802,3026737,2762147,11278756,10531062,20959473,15761153,19959502,20691163,14699069,16987993,17510063,19008232,19546161,19594546,19845874,19875456,20404506 6497 NM_003036,AL590822,AY331180,AY334557,AY338687,CH471183,AK309515,X15218,NG_013084 NP_003027,AAP94890,AAP97864,AAQ16119,EAW56117,EAW56118,CAA33288,P12755,Q7Z459,Q7Z461,Q7Z462,AAI56045,AAI57083 Hs.656507 SKV C-ski|proto-oncogene c-Ski|ski oncogene|ski oncoprotein 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 1314830 SKIL SKI-like oncogene 1580863,2308901,2308888 15496141,10531062,9207045,19383336,19189315,19096149,18782659,18612694,18261624,17625116,17591695,17510063,17469184,17074815,17062133,16966324,16442497,16314499,16109768,15809735,15677458,15489334,15231748,12764135,12522145,12477932,12426322,11691834,11511096,11389444,9927733,8233802,2762147,11278756,15761153,20457602,19889106,10049357,14712482,15967445,16675394,17202138,18334480,19538364,19898560,20093492,20460516,8514802 2308901,2308888 6498 NM_005414,NM_001145098,NM_001145097,AC073288,CH471052,AA827643,AA827646,AK300053,BC059386,U70730,X15217,X15219,Z19588 NP_005405,NP_001138570,NP_001138569,EAW78511,EAW78512,BAG61862,AAH59386,AAB65850,CAA33287,CAA33289,CAA79636,P12757,ABZ92141 Hs.581632 SNO|SnoA|SnoI|SnoN ski-like protein|ski-related oncogene snoN|ski-related protein protein-coding 2306854 SKINTL Skint-like (pseudogene) 18408721,16710414 391037 NR_026749,AL109659,AL356289,BX118767,DN994130 A8MVG2 Hs.585393,Hs.690643 SKINT1|SKINTP pseudo 1351044 SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq] 1580863 19913121,20587610,20628086,7610041,15231747,18976687,17997607,17542649,17081983,16964243,15302935,12477932,11719186,11487501,10774746,9799600,20861866,9705521,9264031,8812450,8132574,7759100,20385819,19556007,19851445 6499 BG396326,CR616648,U09877,Z48796,BE395851,NG_004658,NG_005163,NG_000013,AF019413,AF059675,AL049547,AL645922,AL662849,AL844853,BX005143,CH471081,CR753822,CR753845,CR759782,U37116,U37117,X98378,AB209605,AK293881,AK297230,AK299967,AK303302,AK303448,AL529319,BC015758,NM_006929 AAB52523,CAA88733,O76046,Q15477,Q59F56,Q5JP73,Q96BC0,Q9BQJ5,Q9NPK3,ABM83013,ABW03481,NP_008860,AAB67978,AAC78607,CAB89307,CAQ09280,CAI17460,CAI41863,EAX03554,EAX03555,EAX03556,EAX03557,CAQ10911,CAQ07119,AAA93259,AAA93258,CAA67024,BAD92842,BAG57270,BAG59713,BAG61793,BAG64376,BAG64493,AAH15758 Hs.89864 170A|DDX13|HLP|SKI2|SKI2W|SKIV2 helicase SKI2W|helicase-like protein|superkiller viralicidic activity 2 (S. cerevisiae homolog)-like protein-coding 1606819 SKIV2L2 superkiller viralicidic activity 2-like 2 (S. cerevisiae) 16344560,15489334,14676314,12477932,12429849,11991638,11812149,11790298,11719186,11110791,17353931,14667819,15231747,18309376,17542649,17412707,16782053,15635413,7584044,17643375 23517 AC010480,AC020728,CH471123,AK291649,AK304788,BC014669,BC028604,BC031779,BC065258,BC104996,BC105291,BC113509,BX640789,D29641,DA524147,NM_015360 NP_056175,EAW54919,BAF84338,BAG65538,AAH14669,AAH28604,AAH31779,AAH65258,AAI04997,AAI05292,AAI13510,CAE45877,BAA06124,P42285,Q3MHC9 Hs.274531 Dob1|KIAA0052|MGC142069|Mtr4|fSAP118 ATP-dependent helicase SKIV2L2|functional spliceosome-associated protein 118|superkiller viralicidic activity 2-like 2 protein-coding 3160638 SKOR2 SKI family transcriptional corepressor 2 21102462,16200078,18522874,20029986 652991 AC051635,AY669508,XM_001715219 AAV74189,Q2VWA4,XP_001715271 CORL2|FUSSEL18 LBX1 corepressor 1-like protein|SKI family transcriptional corepressor 2|functional Smad-suppressing element on chromosome 18|functional smad suppressing element 18|fussel-18|ladybird homeobox corepressor 1-like protein protein-coding 1347276 SKP1 S-phase kinase-associated protein 1 This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq] 15103331,16278047,16880511,17098746,17290223,17389369,17389604,17434132,19159283,19615732,19776120,20057081,20379614,20404110,15118074,15145941,15342634,15452136,15469821,20668394,16943429,12791267,9660940,12820959,15469984,11231585,18784078,17569795,17274640,16705156,16682006,16123585,15635413,15489334,15280393,15070733,14743216,14702039,14685242,12746458,12679038,12665572,12609982,12481031,12477932,12417738,12140560,12117534,11961546,11956208,11717410,11585921,11389839,11359933,11337588,11099048,10713156,10644755,10531037,10531035,10508920,9990852,9872132,9858587,9827542,9430629,9031623,8912791,8706131,8646875,8530064,7558018,7553852,18378770,12628165,10230407,18426905,10918611,10559858,17353931,11689688,16169070,16009132,15640526,15966899,16357137,16759355 6500 NM_006930,NM_170679,AC011336,AC104109,CH471062,L49170,L49173,L49176,AI025746,AI028694,AK057110,BC009839,BC020798,BC025673,BC065730,BI552966,BI670085,BQ632052,CR595380,CR597720,CR598005,CR599093,CR599742,CR602170,CR602760,CR608588,CR610615,CR612040,CR617233,CR620059,CR621165,U33760,U37558,Z47087,CR604367 NP_008861,NP_733779,EAW62270,EAW62271,EAW62272,EAW62273,EAW62274,EAW62275,EAW62276,AAB50264,AAB50265,AAB50032,AAH09839,AAH20798,AAH25673,AAH65730,AAC50241,AAA79202,CAA87392,P63208,P78389,P78561,ABM82438,ABM85629,ACE87228,ACE86547 Hs.171626 EMC19|MGC34403|OCP-II|OCP2|SKP1A|TCEB1L|p19A OCP-2|RNA polymerase II elongation factor-like protein OCP2|S-phase kinase-associated protein 1|SIII|cyclin A/CDK2-associated p19|cyclin A/CDK2-associated protein p19|cyclin-A/CDK2-associated protein p19|organ of Corti protein 2|organ of Corti protein II|p19skp1|transcription elongation factor B (SIII), polypeptide 1-like protein-coding 1350075 SKP1B S-phase kinase-associated protein 1B (p19B) 8646875 6501 1607086 SKP2 S-phase kinase-associated protein 2 (p45) This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates 2 transcript variants encoding different isoforms. [provided by RefSeq] 2315043,2315049,2315050,2315036,2315038,2315029,2315035,2302384,2315042,2315044,2315045,2315046 10531035,12042314,15070733,15735731,10918611,20160477,20160482,19724954,15668399,18769160,20864512,15004027,15314162,15452136,20465575,20717963,18826954,18808421,18716061,18695910,18644126,18628304,18620845,18620730,18538504,18516647,18514141,18451165,18381934,18243116,18202766,18196971,18097041,18071316,18064393,18008005,17962192,17908926,17785450,17724117,17652624,17639054,17581405,17560996,18922157,11931757,12504026,12813041,16286470,17157259,7553852,19270695,19270694,19174556,19147533,19056892,19047054,19034576,19029817,17513606,17499794,17471231,17431674,17407140,17384652,17303695,17283060,17081983,16979657,16951159,16924241,16902410,16883603,16861300,16835890,16803887,16774918,16754685,16705171,16636894,16581786,16537899,16525656,16489076,16428491,16425372,16425184,16376880,16232199,16024059,15963850,15949444,15855168,15833859,15767556,15756449,15736055,15735730,15645119,15631990,15605273,15491322,15489334,15483027,15469821,15355997,15342634,15297415,15220466,15215173,15201993,15138278,15096506,15041716,15014503,15014502,14993212,14707456,14615539,14592976,14586067,14558671,12925736,12904306,12883474,12861003,12840033,12738731,12670508,12579266,12529174,12477932,12435635,12429629,12351407,12208864,12188931,12133445,11961546,11689688,11425869,11337588,11237742,11231585,11226270,11099048,10871850,10559916,10559858,10386600,9858587,9827542,9430629,8646875,16103164,18173839,12609982,18519678,12140288,18765672,20134482,19913121,20628086,16209941,16463785,16880511,17409098,17439941,17477906,17679094,18162579,18604603,18953829,19350629,19451650,19557642,19587092,19615363,19615732,19631451,19636294,19657571,19738611,19828607,19889619,19935701,20424123,20508983,20513428,16170383,16865698,20663873 2315043,2315049,2315050,2315036,2315038,2315029,2315035,2302384,2315042,2315044,2315045,2315046 6502 NM_032637,NM_005983,AC008942,CH471119,AB050979,AB050980,AB050981,AK291255,AK295152,AK296223,AY029177,BC001441,BC007441,CR596593,CR616738,U33761 NP_116026,NP_005974,EAW55934,EAW55935,EAW55936,EAW55937,EAW55938,BAB87200,BAB87201,BAB87202,BAF83944,BAG58168,BAG58946,AAK31593,AAH01441,AAH07441,AAC50242,Q13309 Hs.23348 FBL1|FBXL1|FLB1|MGC1366 CDK2/cyclin A-associated protein p45|F-box protein Skp2|F-box/LRR-repeat protein 1|OTTHUMP00000221389|S-phase kinase-associated protein 2|cyclin A/CDK2-associated protein p45|cyclin-A/CDK2-associated protein p45|p45skp2 protein-coding 1351693 SLA Src-like-adaptor 1580863 16169070,19631983,20379614,16327786,10449770,9660183,9020066,8825655,10662792,7543898,19240061,16521218,16344560,15489334,15117958,12477932,11696592,11179692,10779329 6503 HI573974,HI573976,HI573978,FB775548,NM_001045557,NM_001045556,NM_006748,AF235100,AF305872,CH471060,Y18324,AJ238591,AK297423,AK297519,AK309401,AK310092,AK310108,AK310115,AK311010,AK312584,BC007042,BT019994,BX648382,CR536537,CR594017,CR601997,CR617843,D89077,DA483212,DA522819,DA999385,DB265860,DC313073,U30473,U44403 CBX47476,CBX47477,CBX47478,CAV30731,NP_001039022,NP_001039021,NP_006739,EAW92159,CAB53536,BAH12578,BAH12602,BAG35478,AAH07042,AAV38797,CAG38774,BAA13758,AAC50357,AAC27662,Q13239,Q5TZW1,Q6FI01,ACE87109,ACE86434 Hs.75367 SLA1|SLAP SLAP-1|hSLAP|src-like-adapter|src-like-adapter protein 1 protein-coding 1320351 SLA2 Src-like-adaptor 2 This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 11891219,11696592,15489334,14702039,12527895,12477932,12024036,11780052,17353186,21044367 84174 NM_032214,NM_175077,AL031662,AL050318,CH471077,AF290985,AF290986,AF326353,AK025645,AK291513,BC042041,BF062179 NP_115590,NP_778252,CAI21397,CAI21398,CAI23504,CAI23505,EAW76116,EAW76117,EAW76118,EAW76119,AAL38197,AAL38198,AAL29204,BAB15201,BAF84202,AAH42041,Q9H6Q3 Hs.713578 C20orf156|FLJ21992|MGC49845|SLAP-2|SLAP2 MARS|Src-like adapter protein-2|modulator of antigen receptor signaling|src-like adapter protein 2|src-like-adapter 2 protein-coding 1603921 SLAIN1 SLAIN motif family, member 1 16546155,16344560,14702039,12477932 122060 CH471093,AK054608,AK094337,AK289600,AK289714,AK294201,AK295423,AL834203,AL834332,BC045177,BC111497,BI599720,DA096260,DA343547,NM_001040153,NM_144595,AL354831 CAI12505,CAI12507,CAI12508,CAI12509,EAW80571,BAB70772,BAF82289,BAF82403,BAH11695,BAH12062,CAD38891,CAD39000,AAH45177,AAI11498,Q5T6P2,Q7L0J2,Q8ND10,Q8ND83,ACE87398,ACE87399,ACE87403,ACE86713,ACE86714,ACE86717,NP_001035243,NP_653196,CAI12503,CAI12504 Hs.349955 C13orf32|FLJ30046|MGC131899 OTTHUMP00000018528|OTTHUMP00000018529|OTTHUMP00000018531|OTTHUMP00000215095|OTTHUMP00000215097|SLAIN motif-containing protein 1 protein-coding 1602874 SLAIN2 SLAIN motif family, member 2 16546155,14702039,12477932,10819331,7757816,16712791,20056178 57606 NM_020846,AC024191,AC096952,AC098873,CH471069,AB040891,AK025264,AK026476,AK291006,BC006139,BC007701,BC012067,BC031691,BC040993,CB157681,CR621779,Z25182 NP_065897,EAW93057,EAW93058,BAA95982,BAB15095,BAF83695,AAH31691,Q9H705,Q9P270,AAH40993 Hs.479677 FLJ21611|KIAA1458 OTTHUMP00000223077|SLAIN motif-containing protein 2 protein-coding 1344109 SLAMF1 signaling lymphocytic activation molecule family member 1 1580863 19170196,19625176,19692168,20237496,20379614,20042501,7617038,19199539,18676680,18287234,18020706,17715217,17692919,17560639,16889684,16344560,15661039,15356162,15315965,15308701,15193925,14707094,14657878,12629654,12621057,12610126,12477932,12458214,12270725,11806999,11689425,11544303,11489980,11477068,11414741,10972291,10802665,10229804,9774102,9091591,12545174,10607564,20618687,20810499,20231852 6504 BC144498,AF252304,AF252305,AF252306,AL121985,AL138930,CH471121,AA825199,AK304237,AK311666,AK314244,AY040554,BC012602,BC067847,BC110349,BC132792,NM_003037,BC144499,BC144500,CR590430,DB133023,U33017,FB584107 NP_003028,AAG10433,AAG10434,AAG17628,CAH73505,CAI15154,EAW52706,BAG65106,BAG36911,AAK77968,AAH12602,AAI32793,AAA75380,Q13291,Q96QJ2,Q96QR3,Q9HBE7,Q9HBE8,Q9HBE9,CAR96687,ADR82949 Hs.523660 CD150|CDw150|SLAM IPO-3|signaling lymphocytic activation molecule protein-coding 1345807 SLAMF6 SLAM family member 6 The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It may function as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. [provided by RefSeq] 1580863 19913121,20628086,16920955,16710414,16410313,15489334,15340161,15153464,14988414,12975309,17981603,17609265,12477932,11489943,10971580,8892612,8756661,6610481,17045824,12928397,12621057,11862385,16344560,20237496,20379614 114836 NM_052931,AL138930,CH471121,AJ277141,AJ306388,AK125624,AK301026,AK303990,AK310085,AK313549,AL832854,AY358159,BC090928,BC113893,BC114495,AK300013,AW402723,DB197632,NM_001184714,NM_001184715,NM_001184716 NP_443163,CAI15155,CAI15156,CAI15157,EAW52713,EAW52714,EAW52715,EAW52716,CAC59749,CAC59750,BAG54223,BAG62642,BAG64907,BAG36325,CAI46161,AAQ88526,AAI13894,AAI14496,Q96DU3,BAH13193,NP_001171643,NP_001171644,NP_001171645 Hs.492348 FLJ50657|KALI|KALIb|Ly108|MGC104953|NTB-A|NTBA|SF2000 NK-T-B-antigen|NTBA receptor|OTTHUMP00000024349|SLAM family member 6|activating NK receptor|natural killer-, T- and B-cell antigen protein-coding 1345987 SLAMF7 SLAM family member 7 1580863 17906076,17878365,16710414,16410313,16381901,15489336,15489334,15368295,15340161,12975309,12621057,12477932,12242590,11230166,11220635,11076863,19904767,20237496,11802771,11698418,18451245,18216865,17981603,20345977 57823 NM_021181,AL121985,CH471121,AB027233,AF291815,AF390894,AJ271869,AJ276429,AK290706,AK292097,AK292148,AK298499,AK298548,AK301137,AK301432,AK301438,AL713801,AL833025,AL834424,AY358512,BC027867 NP_067004,CAC00579,CAH73507,CAH73508,EAW52703,EAW52704,BAB61022,AAK11549,AAL26989,CAB76561,CAB81950,BAF83395,BAF84786,BAF84837,BAG60706,BAG60745,BAG62729,BAG62960,BAG62965,CAD39085,AAQ88876,AAH27867,Q9NQ25,CAL37819,CAL38153,ACE87659,ACE86969 Hs.517265 19A|CD319|CRACC|CS1 19A24 protein|CD2 subset 1|CD2-like receptor activating cytotoxic cells|CD2-like receptor-activating cytotoxic cells|SLAM family member 7|membrane protein FOAP-12|novel LY9 (lymphocyte antigen 9) like protein|protein 19A protein-coding 1314782 SLAMF8 SLAM family member 8 This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq] 1580863 16344560,16710414,16303743,15489334,15340161,14702039,12928397,12477932,11313408,20237496 56833 NM_020125,AL590560,CH471121,CQ782632,AF144235,AF146761,AK074669,BC109194,DA578369 NP_064510,CAH71103,CAH71104,EAW52774,CAF85891,AAD33923,AAF67470,BAC11123,AAI09195,Q9P0V8,Q9Y351 Hs.438683 BLAME|FLJ20442|MGC129578|SBBI42 B lymphocyte activator macrophage expressed|B-lymphocyte activator macrophage expressed|BCM-like membrane protein|SLAM family member 8 protein-coding 1314275 SLAMF9 SLAM family member 9 This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants. 1580863 18501771,16710414,15489334,12975309,12477932,11862385,11685473,11300479 89886 NM_033438,NM_001146172,NM_001146173,AL513485,CH471121,AF275725,AY034613,AY358801,BC070213,BC074754,CB528634 NP_254273,NP_001139644,NP_001139645,CAI14607,CAI14608,EAW52754,EAW52755,AAK69052,AAK61389,AAQ89161,AAH70213,AAH74754,Q6NSE6,Q96A28 Hs.661712 CD2F-10|CD2F10|CD84-H1|CD84H1|MGC88194|SF2001 CD2 family member 10|CD84 homolog 1|SLAM family member 9|cluster of differentiation 2 antigen family member 10|cluster of differentiation 84 homolog 1|signaling lymphocytic activation molecule family member 2001|signaling lymphocytic activation molecule family member 9 protein-coding 1350910 SLBP stem-loop binding protein This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq] 1580863 16086026,16912046,18172165,9049306,10825184,19155325,18490441,18025107,17499042,17081983,16982637,16931877,16492733,15916543,15829567,15546920,15489334,15260483,14702039,12588979,12477932,12415002,11782445,10982817,10207079,8957003,8652556,1338771,14536070,20348956 7884 CR596014,CR600158,CR607040,CR611828,CR612255,CR612335,CR614064,CR617547,CR618954,CR625037,CR625225,U75679,Z71188,AC016773,CH471131,AK091735,AK093314,AK094257,AK300826,AK315635,BC014908,BC015703,BT007433,CR593596,CR594689,CR595870,NM_006527 AAB97091,CAA94918,Q14493,Q53XR2,ABM83296,ABM86505,NP_006518,EAW82576,EAW82577,EAW82578,EAW82579,EAW82580,BAG52407,BAG52687,BAG52851,BAG62479,BAG38003,AAH14908,AAH15703,AAP36101 Hs.298345 HBP OTTHUMP00000216797|OTTHUMP00000216799|OTTHUMP00000216816|OTTHUMP00000217544|hairpin binding protein, histone|histone RNA hairpin-binding protein|histone binding protein|histone stem-loop binding protein|histone stem-loop-binding protein|stem-loop (histone) binding protein protein-coding 737174 SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 Sodium/bile acid cotransporters are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids, one absorbing from the intestinal lumen, the bile duct, and the kidney with an apical localization (SLC10A2; MIM 601295), and the other being found in the basolateral membranes of hepatocytes (SLC10A1).[supplied by OMIM] 1580863 19343046,17635184,16541252,16123152,16027164,15922475,15604201,15489334,14701722,14660639,12663868,12477932,12044156,11031103,8132774,17207965,20679960,19815625,20031551,20346360,20424473 6554 NM_003049,AF184235,AL157789,CH471061,AK314028,AY544127,BC069799,BC069822,BC074724,BC126298,BC136355,L21893 NP_003040,AAD56541,EAW81011,BAG36738,AAT11158,AAH69799,AAH69822,AAH74724,AAI26299,AAI36356,AAA36381,Q14973,Q9UK36,ADQ31923,ADR82943 Hs.952 NTCP Na(+)/bile acid cotransporter|Na(+)/taurocholate transport protein|Na/taurocholate cotransporting polypeptide|cell growth-inhibiting gene 29 protein|growth-inhibiting protein 29|sodium/bile acid cotransporter|sodium/taurocholate cotransporter|sodium/taurocholate cotransporting polypeptide|solute carrier family 10 member 1|solute carrier family 10, member 1 protein-coding 736402 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 1624186,1580863 12477932,19653651,19823678,20056894,20201924,20346360,20453000,9458785,8661017,11396803,9109432,7592981,19184108,18688880,18668439,18644122,18508772,18311924,18063707,18028035,17960397,17942302,16899538,16749860,16749855,16541252,16411770,16237211,16230354,15952798,15350125,15304498,15239098,15057823,12364586,12220224,12055195,11742882,11589382,11535543,20616306,20600720 1624186 6555 NG_016648,NM_000452,AE014294,AL161771,CH471085,U67674,Z54350,BC130521,BC130523,U10417 NP_000443,AAN16026,CAC39447,EAX09074,AAC95398,CAA91161,AAI30522,AAI30524,AAC51870,Q12908,ADR82931 Hs.194783 ASBT|IBAT|ISBT|NTCP2|PBAM Na(+)-dependent ileal bile acid transporter|ileal apical sodium-dependent bile acid transporter|ileal sodium-dependent bile acid transporter|ileal sodium/bile acid cotransporter|sodium/taurocholate cotransporting polypeptide, ileal|solute carrier family 10, member 2 protein-coding 1354490 SLC10A3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 17567994,16541252,16381901,15489336,12477932,11256614,11076863,8733135,3186440,1354645 8273 NG_013261,NM_019848,NM_001142392,NM_001142391,BX664739,CH471172,L44140,X12458,BC004966,BG327309,CR590776,CR591082,CR598961,CR610627,CR622264,DB460327,DQ655958,DQ655959 NP_062822,NP_001135864,NP_001135863,CAI43236,CAI43237,CAI43238,CAQ10463,EAW72697,EAW72698,EAW72699,AAA92651,CAA30998,AAH04966,P09131,Q5HY78,Q9BSL2,CAL38023,CAL38530 Hs.522826 DXS253E|P3 OTTHUMP00000015406|P3 protein|Protein P3|solute carrier family 10 member 3 protein-coding 1319926 SLC10A4 solute carrier family 10 (sodium/bile acid cotransporter family), member 4 1580863 17106928,16541252,15489334,12477932 201780 AC096952,CH471069,AA776274,AI421729,AK126542,AY704414,BC012048,NM_152679,BC019066 EAW93061,AAW30130,AAH12048,NP_689892,AAH19066,Q96EP9,ABM83554,ABW03505 Hs.132591 MGC29802|P4 Na(+)/bile acid cotransporter 4|bile acid transporter SLC10A4|sodium/bile acid cotransporter 4|solute carrier family 10 member 4 protein-coding 1314423 SLC10A5 solute carrier family 10 (sodium/bile acid cotransporter family), member 5 17632081,16541252,14702039,12477932 347051 NM_001010893,AC132219,CH471068,AK095808,AY825924,BC136625,BC136631 NP_001010893,EAW87101,BAG53134,AAV80707,AAI36626,AAI36632,Q5PT55 Hs.683849 P5 Na(+)/bile acid cotransporter 5|sodium/bile acid cotransporter 5|solute carrier family 10 member 5 protein-coding 1604951 SLC10A6 solute carrier family 10 (sodium/bile acid cotransporter family), member 6 17491011,16541252,12477932 345274 NM_197965,AC079237,AC093827,AC105413,CH471057,AJ583502,BC107051,BC107052,EF437223 NP_932069,EAX05969,CAE47477,AAI07052,AAI07053,ABO38126,Q3KNW5 Hs.452996 MGC129575|MGC129576|SOAT OTTHUMP00000219455|sodium-dependent organic anion transporter|solute carrier family 10 member 6 protein-coding 1351041 SLC10A7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 19240061,17628207,16381901,16344560,15932064,15489336,15489334,12477932,11256614,11230166,11076863 84068 NM_032128,AC093863,AC106879,CH471056,AK075364,AK126000,AK172727,AK291046,AL136728,AY346324,BC023288,BC063471,BC120970,NM_001029998,BC120971,BC127626,BC127627,BC148252,BC150308,CR933647,CR936751,DB205503,DQ122860,DQ122861,DQ871036 NP_001025169,NP_115504,EAX05026,BAC11571,BAG54274,BAF83735,CAB66662,AAQ84722,AAH23288,AAH63471,AAI20971,AAI20972,AAI27627,AAI27628,AAI48253,AAI50309,CAI45948,AAZ32256,AAZ32257,ABI31650,Q0GE19,CAL37739,AAI46685,ACE87257,ACE87263,ACE86574,ACE86578 Hs.659209 C4orf13|DKFZp313H0531|DKFZp566M114|DKFZp779O2438|MGC25043|P7 Na(+)/bile acid cotransporter 7|OTTHUMP00000221097|SBF-domain containing protein|chromosome 4 open reading frame 13|sodium/bile acid cotransporter 7|solute carrier family 10 member 7 protein-coding 736532 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq] 1580863,1331525 16510578,16737570,17932044,19723394,19768110,19863441,20089160,20196868,20214763,20231985,20297661,20399512,20405176,20416077,20424473,7717395,19474129,19374813,19193106,19055603,18998137,18973068,18786141,18506362,18504650,18496987,18456389,18454481,18374540,18340647,18062835,17955444,17950034,17917676,17876529,17624216,17606764,17493019,17466092,17459898,17385031,17378896,17371589,17298451,17223386,17211726,17157384,17131479,17067929,17062442,17034726,16981342,16734634,16638645,8537108,11960304,11929588,11791966,11380946,11358358,10967134,10227396,10049947,9271100,9034150,8529098,8490962,7980580,7964458,19799071,16637265,12019922,16516037,16466030,16461017,16426236,16395392,16344560,16182589,16135804,16125248,16103355,16059695,16002921,15988535,15877293,15860357,15825023,15757519,15755200,15702130,15644277,15641099,15636493,15584484,15381817,15223010,15191519,15141734,15004750,14989712,14960532,14703493,12892615,12799146,12729343,12618857,12595908,12552460,12527228,12477932,12447767,12404162,12391841,12234138,12195379,12142377,12136340,12135431,12070036,19913121,20563497,20578522,20587610,20628086,20799037 1331525 6556 NM_000578,NG_012128,AC021016,AF229163,AJ494846,CH471063,L38593,X82015,AB209650,AK294707,AK298667,AK303398,AK307954,AK310914,AK311405,BC033754,BC037550,BC041787,BC071165,CA307182,CR593183,D38171,D50402,D50403,DB284801,L32185 NP_000569,AAG15403,AAG15405,CAD39201,EAW70611,EAW70612,EAW70613,EAW70614,AAA57556,AAA57557,CAA57541,BAD92887,BAG57862,BAG60835,BAG64454,AAH71165,BAA07370,BAA08907,BAA08908,AAA57521,P49279,Q14970,Q59F11,Q8NDV6,Q9HBK0 Hs.591607 LSH|NRAMP|NRAMP1 NRAMP 1|natural resistance-associated macrophage protein 1|solute carrier family 11 (sodium/phosphate symporters), member 1|solute carrier family 11 member 1 protein-coding 737578 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 The SLC11A2 gene encodes a divalent metal transporter (DMT1), which carries iron, manganese, cobalt, nickel, cadmium, lead, copper, and zinc. DMT1 participates in cellular iron absorption at the luminal surface of the duodenum as well as in other areas of the body (Hubert and Hentze, 2002 [PubMed 12209011]; Ludwiczek et al., 2007 [PubMed 17293870]).[supplied by OMIM] 1580428,1580430,1580431,1580863,2311409,729808 15139022,7613023,18667808,18419598,18082289,17980698,17510944,17293870,17109629,16439678,16344560,16123094,15880641,15792797,15644277,15636493,15489334,15459009,15223008,15024413,14768003,14702039,12973678,12949888,12949720,12734107,12662899,12477932,12475959,12209011,12139757,12127992,11943663,11897618,11891802,11842004,11755534,11439223,11095929,10984552,10751401,9790986,9642100,9464519,9241278,19913121,20587610,20628086,10625641,17932044,18776082,18876082,19679638,20007457,20152801,20164305,20379614 1580428,1580430,1580431,2311409,729808 4891 AK296445,AB015355,AC087884,AF064482,CH471111,AB004857,AB062284,AF046997,AF064484,AJ493662,AK094735,AK128640,NM_000617,AL832886,BC002592,BC100014,CR604434,CR619274,DA417090,DA957633,L37347,AK315987,AK316507,CD365137,CK000292,DA737206,DB350334,DC324894,NG_021139,NM_001174125,NM_001174126,NM_001174127,NM_001174128,NM_001174129,NM_001174130,NR_033421,NR_033422 NP_000608,BAA34374,AAC21460,AAC21461,EAW58159,EAW58160,EAW58161,EAW58162,EAW58163,EAW58164,EAW58165,BAA24933,BAB93467,AAC18078,AAC21459,CAD38517,BAG52920,BAG54706,BAG59096,AAH02592,AAI00015,AAA79219,P49281,ACT64403,ACT64404,BAH14358,BAH14878,NP_001167596,NP_001167597,NP_001167598,NP_001167599,NP_001167600,NP_001167601 Hs.505545 DCT1|DMT1|FLJ37416|NRAMP2 DMT-1|NRAMP 2|divalent cation transporter 1|natural resistance-associated macrophage protein 2|solute carrier family 11 member 2 protein-coding 731943 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporters), member 1 The sodium-potassium-chloride cotransporter isoform 2 is kidney-specific and is found on the apical membrane of the thick ascending limb of Henle's loop and the macula densa. It accounts for most of the NaCl resorption with the stoichiometry of 1Na:1K:2Cl and is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. [provided by RefSeq] 1624188,1580863 12386165,18495801,19096086,19513753,20424473,9355073,9585600,8640224,7929272,19058262,18830715,18391953,17998760,17460608,16832045,16807401,16344560,15167446,14967834,14528028,12761241,12477932,12471046,11564973,11509477,9672238,9655365,8589530,20219833,20196086,20146722,19913121,20628086 1624188 6557 NG_021301,NM_001184832,DA632985,EF559316,U58130,BX647484,NM_000338,AC023355,AC066612,AJ005332,AJ005333,CH471082,CS223391,AA917702,AB032525,AB032527,AK129998,AK295375,AK298275,AK298312,BC040138,BX647067 NP_001171761,ABU69043,AAB07364,O76029,O76030,Q13621,Q6ZP54,Q8IUN5,AAI48652,AAI56820,NP_000329,CAA06479,CAA06480,EAW77344,EAW77345,EAW77346,CAJ46935,BAA84574,BAA84576,BAC85271,BAG58334,BAG60536,BAG60566,AAH40138 Hs.605373,Hs.123116 BSC1|MGC48843|NKCC2 NKCC2A variant A|Na-K-2Cl cotransporter|bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2|kidney-specific Na-K-Cl symporter|solute carrier family 12 member 1|solute carrier family 12, member 1 protein-coding 732816 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporters), member 2 By moving chloride into epithelial cells, the Na-K-Cl cotransporter SLC12A2 aids transcellular movement of chloride across both secretory and absorptive epithelia (Payne et al., 1995 [PubMed 7629105]). See also SLC12A1 (MIM 600839) and SLC12A3 (MIM 600968).[supplied by OMIM] 1580582,1580583,1580584,1580863 20732874,18391953,12946942,18032481,7629105,19523148,19240061,19023125,18550547,18400987,17478539,16227993,16222701,15899883,15347682,15280386,14982922,14563843,12740379,12657561,12477932,12355171,12054469,11943682,11700976,11042348,10736171,9672238,8889548,8663127,20471979,20442269,16669787,19686239,19916249,20044742,20061948,20379614,21139019 1580582,1580583,1580584 6558 NM_001046,AC008577,AC011332,CH471062,AA425438,AA425619,AA843086,AB209192,AF439152,AI493213,AK025062,AV708692,AY280459,BC033003,BC144221,BC146839,BM978607,CR611229,U30246 NP_001037,EAW62392,EAW62393,EAW62394,BAD92429,AAL32454,AAP33906,AAI44222,AAI46840,AAC50561,P55011,Q53ZR1,Q59GB7 Hs.162585,Hs.712970 BSC|BSC2|MGC104233|NKCC1 OTTHUMP00000223462|basolateral Na-K-Cl symporter|bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1|solute carrier family 12 member 2|solute carrier family 12, member 2 protein-coding 733325 SLC12A3 solute carrier family 12 (sodium/chloride transporters), member 3 This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580586,1580587,1580588,1580589,1580863 8528245,8670281,19489442,19207868,19033254,18580052,18496130,18469313,18391953,18362449,18287808,18270262,18263927,18067089,17997379,17981812,17975670,17954289,17885550,17873326,17654016,17653210,17460608,17329572,17159356,16887815,16688122,16505253,16221718,15915338,15824464,15480096,15309683,15102966,15069170,14766743,14675033,14655226,14578305,12686679,12515852,12477932,11893344,11832422,11564973,11076863,9596079,9373149,8954067,8812482,8125298,20889219,19913121,20628086,19420906,19451210,19668106,19779464,19875813,20031564,20379614 1580586,1580587,1580588,1580589 6559 NM_000339,NM_001126108,NM_001126107,NG_009386,AC012181,CH471092,AK223133,AK315298,BF510426,U44128,X91220 NP_000330,NP_001119580,NP_001119579,EAW82888,EAW82889,EAW82890,EAW82891,AAC50355,CAA62613,P55017,AAI11851 Hs.669115 FLJ96318|NCCT|TSC Na-Cl symporter|NaCl electroneutral thiazide-sensitive cotransporter|solute carrier family 12 member 3|solute carrier family 12, member 3|thiazide-sensitive Na-Cl cotransporter|thiazide-sensitive sodium-chloride cotransporter protein-coding 736767 SLC12A4 solute carrier family 12 (potassium/chloride transporters), member 4 729801,1580863 12477932,8663127,9516379,19317253,18391953,15489334,15262997,15231748,15039017,14976052,14702039,12902337,12637262,11551954,10564083,8268911,19913121,20602615,20628086 729801 6560 NM_001145961,NM_001145962,NM_001145963,NM_001145964,AC040162,AY211326,CH471092,AF047338,AF053402,AF054505,AF054506,AI368074,AK026911,AK097808,AK293906,AK293956,AK299042,AK302790,AK310027,AK311073,AK316415,AY026038,BC021193,NM_005072,BC035480,CF272417,DC321966,DC333904,DC402650,U55054 NP_005063,NP_001139433,NP_001139434,NP_001139435,NP_001139436,AAO83657,EAW83191,EAW83192,EAW83193,EAW83194,EAW83195,EAW83196,AAC32815,AAC35282,AAC39684,AAC39685,BAG53532,BAG57291,BAG57330,BAG61116,BAG63994,BAH14786,AAK01946,AAH21193,AAC50563,Q6XSF4,Q9UP95,ABM83180,ABM86383 Hs.10094 FLJ17069|FLJ40489|KCC1 K-Cl cotransporter|electroneutral potassium-chloride cotransporter 1|erythroid K-Cl cotransporter 1|erythroid K:Cl cotransporter|hKCC1|potassium/chloride cotransporter 1|solute carrier family 12 member 4|solute carrier family 12, member 4 protein-coding 731044 SLC12A5 solute carrier family 12 (potassium-chloride transporter), member 5 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 11780052,11701957,11395011,10574461,9110174,8619474,12106695,19307176,18978678,18602983,18391953,17715129,17693402,16344560,16324114,16291749,15932617,15528236,14702039,12739168,12637262,12477932,20516068,20650312,19686239,20379614 57468 NM_020708,AL162458,CH471077,AB033002,AF208159,AK055066,AK098371,AK289758,AK294059,AK295096,AK295900,AK296331,BC036329,BC132668,BC132670,DA102113,DC320473,U79245,NM_001134771 NP_001128243,NP_065759,CAH74053,CAH74054,EAW75771,EAW75772,EAW75773,BAA86490,AAG43493,BAF82447,BAH11662,BAH11972,BAH12216,BAH12319,AAI32669,AAI32671,Q5VZ42,Q9H2X9 Hs.21413 KCC2|KIAA1176 K-Cl cotransporter 2|electroneutral potassium-chloride cotransporter 2|erythroid K-Cl cotransporter 2|hKCC2|neuronal K-Cl cotransporter|solute carrier family 12 member 5 protein-coding 1322734 SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6 This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq] 1580594,1580863 10187864,19058789,18566107,18536702,18391953,18006853,17893295,17133354,16606917,16098236,16048901,15262997,12657561,12637262,12477932,12368912,11551954,10600773,10347194,12386165,19665974,20020398 1580594 9990 BC033894,BC051709,BC051744,BC070107,BC126241,BC126243,BC150584,BX648195,DQ138323,NM_001042495,NM_001042496,NM_001042494,NM_001042497,NM_133647,NM_005135,NG_007951,AC021822,AC079203,AF314956,CH471125,AF105366,AF108831,AF116242,AF477977,AF531258,AF531259,AF531260,AK128133,AK292550,AK315283,AL117500,AF314931,AF314932,AF314933,AF314934,AF314935,AF314936,AF314937,AF314938,AF314939,AF314940,AF314941,AF314942,AF314943,AF314944,AF314945,AF314946,AF314947,AF314948,AF314949,AF314950,AF314951,AF314952,AF314953,AF314954,AF314955 Q7Z4G5,Q9UHW9,AAH51744,AAH70107,AAI26242,AAI26244,AAI50585,CAI46042,ABA02873,A0AV76,Q2VI00,Q3ZCQ6,Q5HYC7,CAB55965,Q6NSI7,Q7Z2E7,NP_001035960,NP_001035961,NP_001035959,NP_001035962,NP_598408,NP_005126,AAM96215,AAM96216,EAW92295,EAW92296,EAW92297,EAW92298,EAW92299,EAW92300,EAW92301,EAW92302,AAD39742,AAD25337,AAF24986,AAL85335,AAQ10026,AAQ10027,AAQ10028,BAG54635,BAF85239,BAG37692 Hs.510939 ACCPN|DKFZp434D2135|KCC3|KCC3A|KCC3B K-Cl cotransporter 3|electroneutral potassium-chloride cotransporter 3|potassium chloride cotransporter 3|potassium chloride cotransporter KCC3a-S3|potassium-chloride transporter-3a|potassium-chloride transporter-3b|solute carrier family 12 member 6 protein-coding 1348814 SLC12A7 solute carrier family 12 (potassium/chloride transporters), member 7 1580863 20734064,10347194,18984587,18391953,17133354,15489334,15262997,14702039,14698746,12637262,12477932,11976689,11214971,10913127,20516068,19887603,20139978 10723 NM_006598,AC116351,CH471102,CQ859788,AF105365,AK024493,AK024497,AK026625,AK302856,AL117433,BC007760,BC018982,BC098390,BU953746,DB451347 NP_006589,EAX08178,EAX08179,EAX08180,EAX08181,CAH25944,AAD39741,BAB15783,BAB15787,BAG64042,CAB55921,AAH07760,AAH98390,Q9Y666 Hs.172613 DKFZp434F076|KCC4 K-Cl cotransporter 4|OTTHUMP00000220873|electroneutral potassium-chloride cotransporter 4|potassium/chloride transporter KCC4|solute carrier family 12 member 7 protein-coding 1345509 SLC12A8 solute carrier family 12 (potassium/chloride transporters), member 8 737840 19472210,16344560,16297188,12739168,12477932,11863360,7566098 737840 84561 NM_024628,AC055752,AC108688,AC117488,AF389851,CH471052,AA331231,AA593021,AF345197,AF390442,AK026841,AK123001,AK308484,BC020506,BC063528,BC126158,BC126160,BG149722,BX538023,CR457363,CR596399,CR749632,DA858738,NG_027706,NM_001195483 NP_078904,AAK94307,EAW79399,EAW79400,AAO49174,AAM73657,BAB15571,BAG53843,AAH20506,AAH63528,AAI26159,AAI26161,CAD97969,CAG33644,CAH18426,A0AV02,NP_001182412,ADR83103 Hs.658514 CCC9|DKFZp686L18248|FLJ23188 OTTHUMP00000215536|cation-chloride cotransporter 9|solute carrier family 12 (sodium/potassium/chloride transporters), member 8|solute carrier family 12 member 8|solute carrier family 12, member 8 protein-coding 1347947 SLC12A9 solute carrier family 12 (potassium/chloride transporters), member 9 14702039,12690205,12477932,11239002,11060040,10871601,20639392 56996 AF312032,CH236956,CH471091,AB033284,AF284422,AK024420,AK024421,AK024466,AK024494,AK026624,AK090458,AK128873,AK301411,BC000154,BG818005,BI554206,BM921877,CR594298,AC011895,NM_020246 AAK21008,AAK21009,EAL23818,EAW76475,EAW76476,EAW76477,EAW76478,EAW76479,EAW76480,EAW76481,EAW76482,EAW76483,EAW76484,EAW76485,EAW76486,BAB40456,AAF88060,BAB15710,BAB15711,BAB15756,BAB15784,BAC03439,BAH13476,AAH00154,NP_064631,Q8NF23,Q9BXP2,Q9H7I6,Q9H7L3,Q9H7Q7,Q9H7Q8 Hs.521087 CIP1|FLJ46905 CCC-interacting protein 1|OTTHUMP00000209115|WO3.3|cation-chloride cotransporter 6|cation-chloride cotransporter-interacting protein 1|hCCC6|hCIP1|potassium-chloride transporter 9|solute carrier family 12 member 9 protein-coding 1346909 SLC13A1 solute carrier family 13 (sodium/sulfate symporters), member 1 1580863 19401682,16211368,14702039,12867358,12857732,12853948,12690205,12477932,11161786,20670164 6561 NM_022444,AC073054,AC091319,CH236947,CH471070,AF260824,AI209074,AI469201,AK026413,AK314537,BC111775 NP_071889,AAS01997,AAS01993,EAL24337,EAW83582,AAG60583,BAB15477,BAG37127,AAI11776,Q2NKK0,Q75LT0,Q75MH3,Q9BZW2,AAI40318,AAI48687 Hs.489849 NAS1|NaSi-1 Na(+)/sulfate cotransporter|hNaSi-1|renal sodium/sulfate cotransporter|solute carrier family 13 (sodium/sulphate symporters), member 1|solute carrier family 13 member 1 protein-coding 736607 SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 1580863 20610529,8967342,18161988,17470169,16344560,16211368,15774465,15620109,15489334,14702039,12477932,12445824,10343111,20424473 9058 NM_003984,NM_001145975,NM_001145976,NR_027384,AC015917,CH471159,AK091926,AK298388,AK303909,AK303936,AK314684,AW024214,BC096276,BC096277,BC096278,BC096279,DB204108,DB320886,U26209 NP_003975,NP_001139447,NP_001139448,EAW51090,EAW51091,BAG52442,BAG60623,BAG64838,BAG64864,BAG37236,AAH96276,AAH96277,AAH96278,AAH96279,AAA98504,Q13183,Q4VAR9 Hs.102307 NADC1|NaCT|NaDC-1|SDCT1 Na(+)-coupled citrate transporter|Na(+)/dicarboxylate cotransporter 1|renal sodium/dicarboxylate cotransporter|solute carrier family 13 member 2 protein-coding 69657 SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq] 1580863 15146197,15342556,16344560,18602983,16331647,16211368,15561973,15489334,14702039,12915942,12477932,11780052,10992006,10794676,18029348,20813124 64849 BM474324,BP358260,CB997336,CN310376,DA272524,DA334816,DA503319,DA636764,NM_001193339,NM_001193340,NM_001193342,NM_001011554,NM_022829,AL034424,AL133520,CH471077,AF154121,AK056713,AK096658,AK123351,AK293902,AK295748,AK303709,AK310767,AK310960,AK315131,AL442082,AY072810,BC014931,BC035966,BQ946167 NP_001180268,NP_001180269,NP_001180271,NP_001011554,NP_073740,CAI42503,CAI42505,CAI42507,CAI18891,EAW75725,EAW75726,AAF73251,BAB71262,BAC04834,BAG57288,BAG58580,BAG64693,CAC09447,AAL66762,AAH35966,Q8WWT9,ABM83581,ABM86820 Hs.655498 NADC3|SDCT2 Na(+)/dicarboxylate cotransporter 3|OTTHUMP00000214796|OTTHUMP00000214797|OTTHUMP00000214798|hNaDC3|naDC-3|sodium-dependent high affinity dicarboxylate transporter 3|sodium-dependent high-affinity dicarboxylate transporter 2|solute carrier family 13 member 3 protein-coding 1345589 SLC13A4 solute carrier family 13 (sodium/sulfate symporters), member 4 1580863 10535998,16211368,15607730,12690205,12477932,20379614 26266 NM_012450,AC091736,CH236950,CH471070,AB208809,AF169301,AK313072,BC030689,BC040872,CR597145,CR597198 NP_036582,EAL24058,EAW83857,EAW83858,BAD92046,AAF05907,AAH30689,Q59HF0,Q9UKG4,ABM84484,ABM84966 Hs.200022,Hs.490241 SUT-1|SUT1 Na(+)/sulfate cotransporter SUT-1|naS2|solute carrier family 13 (sodium/sulphate symporters), member 4|solute carrier family 13 member 4|sulphate transporter 1 protein-coding 1351292 SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[supplied by OMIM] 16973915,16344560,16211368,15489334,14702039,12826022,12477932,12445824,20379614 284111 NM_001143838,NM_177550,AC004706,CH471108,AJ489980,AK127797,AK131206,AK172779,AK172785,AK297612,AY151833,BC104795,BC112151,BC143689,CR749584,DA187094 NP_001137310,NP_808218,EAW90292,EAW90293,EAW90294,EAW90295,CAD34590,BAG54572,BAD18760,BAD18766,BAH12628,AAN86530,AAI04796,AAI12152,AAI43690,CAH18382,Q68D44,Q6ZMG6,Q86YT5,Q8IV67 Hs.399496 DKFZp686E17257|MGC138356|NACT Na(+)/citrate cotransporter|sodium-coupled citrate transporter|sodium-dependent citrate transporter|solute carrier family 13 member 5|solute carrier family 13, member 5 protein-coding 1354455 SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq] 1580863 19926813,20379614,20424473,20431033,11435423,7797558,7989337,19175544,18997004,18713105,18510579,18067501,16344560,15783300,15754970,14985236,14702039,12477932,12093813,11852461,11841450,11807016,10942407,10644814,10514515,9734652,9582331,9215669,8647271,8573795,2890568,20560530 6563 GQ502682,NM_001128588,NM_015865,NG_011775,NM_001146036,NM_001146037,AC023421,AF046026,AF328890,AJ316564,AY942197,CH471088,AF328892,AK091064,AK123681,AK127452,AK289608,AK294129,AK295268,AU134365,BC040128,BC050539,DA051199,DA134800,DA186606,DA473671,L36121,U35735,Y19039 ACV91713,NP_001122060,NP_056949,NP_001139508,NP_001139509,AAC69610,AAL37474,CAC86943,AAX20112,EAX01458,EAX01459,BAG52274,BAG53935,BAG54505,BAF82297,BAG57459,BAG58255,AAH50539,AAB00181,CAB60834,Q13336,Q71UV7,Q8WXW8,Q96KQ5 Hs.101307 FLJ33745|FLJ41687|HUT11|HsT1341|JK|RACH1|UT-B1|UT1|UTE blood group Kidd urea transporter|solute carrier family 14 member 1|urea transporter 1|urea transporter JK glycoprotein|urea transporter, erythrocyte|urea transporter-B1 protein-coding 731952 SLC14A2 solute carrier family 14 (urea transporter), member 2 In mammalian cells, urea is the chief end-product of nitrogen catabolism and plays an important role in the urinary concentration mechanism. Thus, the plasma membrane of erythrocytes and some renal epithelial cells exhibit an elevated urea permeability that is mediated by highly selective urea transporters. In mammals, 2 urea transporters have been identified: the renal tubular urea transporter, UT2, and the erythrocyte urea transporter, UT11 (SLC14A1; MIM 111000).[supplied by OMIM] 1580863 20139978,17702749,8647271,17344938,17264986,16480766,15189812,12952854,12477932,11590132,11502588,11399654,7989337,19260141,20379614,21102462,20797394 8170 NM_007163,AC023421,CH471088,AF349446,AK074236,AK122698,AK292422,BC110445,BC110446,DR002593 NP_009094,EAX01454,EAX01455,AAL08485,BAB85026,BAF85111,AAI10447,Q15849,Q8TEC4 Hs.710927 FLJ16167|HUT2|MGC119566|MGC119567|UT-A2|UT2|UTA|UTR|hUT-A6 solute carrier family 14 member 2|solute carrier family 14, member 2|urea transporter 2|urea transporter, kidney|urea transporter-2 protein-coding 730868 SLC15A1 solute carrier family 15 (oligopeptide transporter), member 1 1580863 15553237,19389806,19439487,19462432,19549526,19685173,20067523,20104847,20379614,20424473,20558765,20430871,16181611,9299407,7896779,19343046,19246733,19144638,18713951,18668438,18466105,18336632,18094991,18028524,17562024,17407174,17009102,16963449,16627568,16568107,16328452,16283203,16253763,16198124,15981923,15974593,15832510,15832502,15802293,15623827,15521010,15489334,15057823,14725353,14561585,14532279,12905028,12788085,12679938,12649372,12548404,12477932,11944083,11897620,9508831,9458100,9207295,9115234,7592745 6564 NG_017032,NM_005073,AL353574,AL391670,CH471085,AB001328,AF043233,AL708816,AW449979,AY634368,BC096327,BC096328,BC096329,BC099651,CU445953,EU544224,U13173,U21936 NP_005064,CAC27441,CAI15619,CAH70393,EAX08991,EAX08992,EAX08993,BAA22632,AAC15477,AAT48121,AAH96327,AAH96328,AAH96329,ACB71122,AAB61693,AAA63797,O14496,O43641,P46059,Q4VAL9,Q6GV26 Hs.436893 HPECT1|HPEPT1|PEPT1 Caco-2 oligopeptide transporter|intestinal H+/peptide cotransporter|macrophage oligopeptide transporter PEPT1|oligopeptide transporter, small intestine isoform|peptide transporter 1|solute carrier family 15 member 1 protein-coding 731699 SLC15A2 solute carrier family 15 (H+/peptide transporter), member 2 1580863 20406817,7756356,16738539,19343046,19246733,19240061,18766334,18762712,18713951,18668438,18474668,18367661,15981923,15626774,15282265,15020234,14702039,12905028,12579467,12477932,12388627,11944083,8889548,15553237,19723536,19898482,20067523,20173083,20424473 6565 NM_001145998,AC072031,CH471052,AK090726,AK289820,AK296895,AK302002,AK304189,BC020743,BC038445,BC044572,CB242692,DC418197,S78203,NM_021082 NP_066568,NP_001139470,EAW79496,BAF82509,BAG59454,BAG63405,BAG65069,AAH20743,AAH44572,AAB34388,Q16348,Q86UE9 Hs.518089 FLJ33407|PEPT2 OTTHUMP00000215241|kidney H(+)/peptide cotransporter|oligopeptide transporter, kidney isoform|peptide transporter 2|solute carrier family 15 member 2 protein-coding 1348958 SLC15A3 solute carrier family 15, member 3 633591,1580863 12905028,12477932,11741232,11336635,8889548 633591 51296 NM_016582,NR_027391,AP003721,CH471076,AB020598,AF135600,AK127216,BC025710,BC037974,BU731752,CR607140,CR615238,CR623241 NP_057666,EAW73915,EAW73916,BAA93432,AAQ13565,AAH25710,AAH37974,Q05CH4,Q8IY34 Hs.237856 FLJ26631|OCTP|PHT2|PTR3 osteoclast transporter|peptide transporter 3|peptide/histidine transporter 2|solute carrier family 15 member 3 protein-coding 733038 SLC15A4 solute carrier family 15, member 4 1580863 18259684,16289537,14702039,12905028,12477932,11741232,19838193,20379614,20516000 121260 NM_145648,AC108704,CH471054,AF461893,AK095717,AY038999,AY050629,BC028394,BC146803,CR609573,CR611128 NP_663623,EAW98494,EAW98495,AAQ04807,BAG53113,AAK72099,AAK95565,AAH28394,AAI46804,Q8N697 Hs.507260 FP12591|PHT1|PTR4 hPHT1|peptide transporter 4|peptide-histidine transporter 4|peptide/histidine transporter|peptide/histidine transporter 1|solute carrier family 15 member 4 protein-coding 2302456 SLC15A5 solute carrier family 15, member 5 16541075 729025 NM_001170798,AC073574 NP_001164269,A6NIM6 Hs.692712 Peptide/histidine transporter ENSP00000340402|solute carrier family 15 member 5 protein-coding 737474 SLC16A1 solute carrier family 16, member 1 (monocarboxylic acid transporter 1) The SLC16A1 gene encodes a monocarboxylate transporter (MCT1) that mediates the movement of lactate and pyruvate across cell membranes Import and export of these substrates by tissues such as erythrocytes, muscle, intestine, and kidney are ascribed largely to the action of a proton-coupled MCT (Garcia et al., 1994 [PubMed 8124722]).[supplied by OMIM] 1580863 15342556,15917240,18029348,19427019,19876643,19881260,19898482,19905008,7273846,1429658,17353931,8124722,19033663,19033536,18832090,18539591,18188595,18079261,17701893,17182800,17082373,17081983,17016429,16441976,16408234,16403470,16370372,16150873,15901598,15804185,15765403,15489334,15135232,19850519,20877624,20501436,14724187,14702039,12949353,12759536,12739169,12657613,12479094,12477932,11953883,11944921,11882670,11820324,10921872,10590411,10562613,10471310,9824713,8889548,7835905,19913121,20454640,20628086,20035863,20636790 6566 AI656300,BP294493,NG_015880,NM_001166496,BC045664,BM712667,CR602423,CR624057,DB443025,L31801,BC026317,AJ438945,AL158844,CH471122,AJ438942,AJ438943,AK000641,AK094064,AK296688,AK303603,AK312500,AL162079,NM_003051 NP_001159968,AAH26317,AAH45664,AAC41707,P53985,Q49A45,Q5T8R3,Q5T8R4,Q5T8R5,ABM86212,ABW03657,ACE87390,ACE86705,NP_003042,CAD27707,CAI21872,CAI21873,CAI21874,CAI21875,EAW56551,EAW56552,EAW56553,BAG59282,BAG64618,BAG35402,CAB82412 Hs.75231 FLJ36745|HHF7|MCT|MCT1|MGC44475 MCT 1|OTTHUMP00000013961|OTTHUMP00000013962|OTTHUMP00000013963|monocarboxylate transporter 1|solute carrier family 16 (monocarboxylic acid transporters), member 1|solute carrier family 16 member 1|solute carrier family 16, member 1 protein-coding 731538 SLC16A10 solute carrier family 16, member 10 (aromatic amino acid transporter) SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM] 1580863 15918515,18337592,12739169,12477932,11827462,11278976,11278508,18195088,20167367 117247 NM_018593,AL360227,CH471051,AB057445,AK126183,AK172789,BC017968,BC034031,BC066985 NP_061063,CAH73732,CAH73733,CAH73734,CAH73735,EAW48298,EAW48299,BAB84670,BAG54292,BAD18768,AAH17968,AAH34031,AAH66985,Q05BR4,Q5VWW7,Q5VWW8,Q8TF71,Q9P1I2 Hs.591327 PRO0813|TAT1 MCT 10|T-type amino acid transporter 1|aromatic amino acid transporter 1|monocarboxylate transporter 10|solute carrier family 16 (monocarboxylic acid transporters), member 10|solute carrier family 16 member 10|solute carrier family 16, member 10 protein-coding 1322416 SLC16A11 solute carrier family 16, member 11 (monocarboxylic acid transporter 11) 1580863 12477932,16303743,12739169 162515 NM_153357,AC040977,CH471108,CQ783564,AK074674,BC093860,BC093886,BC143369 NP_699188,EAW90268,EAW90269,EAW90270,CAF86732,BAC11128,AAH93860,AAH93886,Q8NCK7 Hs.336564 FLJ90193|MCT11 MCT 11|monocarboxylate transporter 11|solute carrier family 16 (monocarboxylic acid transporters), member 11|solute carrier family 16 member 11 protein-coding 1606094 SLC16A12 solute carrier family 16, member 12 (monocarboxylic acid transporter 12) 18304496,12739169,12477932,16385451,20181839 387700 NM_213606,AL353146,AL355342,CH471066,AK124901,AK127303,BC086873,CR936657,CB068043,NG_021179 NP_998771,CAI12382,CAI12383,EAW50134,BAC85987,BAC86925,AAH86873,Q6ZSM3,AAI72347 Hs.530338 CJMG|DKFZp686E188|MCT12 monocarboxylate transporter 12 protein-coding 1354212 SLC16A13 solute carrier family 16, member 13 (monocarboxylic acid transporter 13) 12477932,12739169 201232 NM_201566,AC040977,CH471108,BC109286,BC131739,BC142618,BN000145 NP_963860,EAW90272,AAI09287,AAI31740,AAI42619,CAD80156,Q7RTY0 Hs.448010 MCT13 MCT 13|monocarboxylate transporter 13|solute carrier family 16 (monocarboxylic acid transporters), member 13|solute carrier family 16 member 13 protein-coding 1320146 SLC16A14 solute carrier family 16, member 14 (monocarboxylic acid transporter 14) 14702039,12739169,12477932,16344560 151473 NM_152527,AC093171,CH471063,AK055317,AK055356,AK123207,AK292873,AL833470,BC034382,BC065524,BN000146,BX648181,BX093330,DA044472 NP_689740,AAY24109,EAW70913,EAW70914,BAG51499,BAB70909,BAC85558,BAF85562,AAH34382,AAH65524,CAD80157,Q05BQ4,Q6ZWE5,Q7RTX9 Hs.504317 FLJ30794|MCT14 MCT 14|OTTHUMP00000204389|OTTHUMP00000204390|monocarboxylate transporter 14|solute carrier family 16 (monocarboxylic acid transporters), member 14|solute carrier family 16 member 14 protein-coding 737451 SLC16A2 solute carrier family 16, member 2 (monocarboxylic acid transporter 8) This gene encodes an integral membrane protein transporter of thyroid hormone; specifically, cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues including brain, heart, placenta, lung, kidney, skeletal muscle, and liver. This gene likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. [provided by RefSeq] 1304408,1580863,1599329 9425115,7981683,19641107,19439506,19194886,19022891,18710470,18687783,18636565,18398436,18337592,18187543,17684393,17356046,17081983,16957765,16887882,15889350,15834651,15661862,15488219,14661163,12871948,12739169,9545634,9110174,8619474,7829101,20660035,19811520,20628049,19648159,19797118,20167367,20373986 1304408,1599329 6567 NM_006517,NG_011641,AC004073,AL157934,CH471104,U05316,U05321,AB085789,AF055025,AK308542,AW022421,U05315 NP_006508,CAI40762,EAW98644,EAW98645,AAB60375,BAC76827,AAB60374,P36021,AAI56063,AAI56881 Hs.75317 AHDS|DXS128|DXS128E|MCT 7|MCT 8|MCT7|MCT8|MRX22|XPCT X-linked PEST-containing transporter|monocarboxylate transporter 7|monocarboxylate transporter 8|solute carrier family 16 member 2 protein-coding 731750 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM] 724632,1580863 20035863,18029348,15917240,7273846,9425115,17502341,17081983,15489334,12739169,12657613,12477932,10921872,10510291,9373149,8125298,19913121,20628086 724632 9123 NM_004207,NM_001042423,AC132872,CH471099,AK127319,AK223040,BC112267,BC112269,CR604145,CR620431,U81800,NM_001042422 NP_001035887,NP_004198,NP_001035888,EAW89753,EAW89754,EAW89755,EAW89756,EAW89757,BAG54480,BAD96760,AAI12268,AAI12270,ADR83188,O15427,Q53G91,AAC52015 Hs.500761 MCT3|MCT4|MGC138472|MGC138474 MCT 3|MCT 4|monocarboxylate transporter|monocarboxylate transporter 3|monocarboxylate transporter 4|solute carrier family 16 (monocarboxylic acid transporters), member 3|solute carrier family 16 member 3 protein-coding 1348929 SLC16A4 solute carrier family 16, member 4 (monocarboxylic acid transporter 5) 724632,1580863 20658178,19876643,9425115,19073896,18832090,18635880,18188595,18079261,18056982,17082373,16710414,16452478,16408234,16403666,15917240,15135232,14724187,12739169,12657613,12477932,11101640,10510291,10329977,9373149,8125298,10921872,15342556,20454640,20035863 724632 9122 NM_004696,AL355488,CH471122,AK129985,AK223307,AK290720,AK295946,AK298539,AK313735,AL833619,BC021664,BX647948,U59185,AI245349,BE893159,BP345760,NM_001201546,NM_001201547,NM_001201548,NM_001201549 NP_004687,CAI19078,CAI19079,EAW56443,EAW56444,EAW56445,EAW56446,BAD97027,BAF83409,BAG58729,BAG60739,BAG36476,AAH21664,AAB72035,O15374,Q53FH9,Q8WU09,NP_001188475,NP_001188476,NP_001188477,NP_001188478 Hs.351306 MCT4|MCT5 MCT 4|MCT 5|monocarboxylate transporter 4|monocarboxylate transporter 5|solute carrier family 16 (monocarboxylic acid transporters), member 4|solute carrier family 16 member 4 protein-coding 1351583 SLC16A5 solute carrier family 16, member 5 (monocarboxylic acid transporter 6) 724632,1580863 9425115,15489334,12739169,12477932,10510291,14702039 724632 9121 AK000416,AK092512,AK304163,BC009684,BC033611,CR597096,CR618619,U59299,NM_004695,AC111186,CH471099 EAW89233,EAW89234,EAW89235,BAG52563,BAG65050,AAH09684,AAH33611,AAC52013,O15375,ABM85080,NP_004686,EAW89232 Hs.592095 MCT5|MCT6 MCT 5|MCT 6|monocarboxylate transporter 5|monocarboxylate transporter 6|solute carrier family 16 (monocarboxylic acid transporters), member 5|solute carrier family 16 member 5 protein-coding 1343675 SLC16A6 solute carrier family 16, member 6 (monocarboxylic acid transporter 7) 724632,1580863 9425115,17081983,16174808,12739169,12477932,10510291 724632 9120 NM_001174166,NM_004694,AC005332,CH471099,AK290417,AK313121,BC064832,BC127749,BC127750,BC141962,BC150547,BC150548,U79745 NP_001167637,NP_004685,EAW89052,EAW89053,EAW89054,BAF83106,AAH64832,AAI27750,AAI27751,AAI41963,AAI50548,AAI50549,AAC52014,O15403 Hs.42645 MCT6|MCT7 MCT 6|MCT 7|monocarboxylate transporter 6|monocarboxylate transporter 7|solute carrier family 16 (monocarboxylic acid transporters), member 6|solute carrier family 16 member 6 protein-coding 1346247 SLC16A7 solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 1580863 9786900,18598673,18188595,17502341,14757520,12477932,15917240,19834535,19876643,20379614,7273846,12739169,12115955,20454640,20035863 9194 NM_004731,AC079905,CH471054,AF049608,AF058056,AK301725,AK310281,AK313345,BC007463,BC030693 NP_004722,EAW97096,EAW97097,EAW97098,EAW97099,AAC70919,AAC13721,BAG63191,BAG36148,AAH30693,O60669,Q8NEM3,ABM84505,ABM85684 Hs.439643 MCT2 MCT 2|monocarboxylate transporter 2|solute carrier family 16 (monocarboxylic acid transporters), member 7|solute carrier family 16 member 7 protein-coding 736227 SLC16A8 solute carrier family 16, member 8 (monocarboxylic acid transporter 3) Lactate transport across cell membranes is mediated by proton-coupled monocarboxylate transporters, such as SLC16A8 Yoon et al. (1999) [PubMed 10493836].[supplied by OMIM] 1580863 15917240,20424473,7273846,10493836,12739169,12657613,10591208,8889548,16169070 23539 NM_013356,AF132611,AL031587,CH471095,AF132610,BM709138,BM714896,BM714916 NP_037488,AAF03489,CAB37479,CAQ06645,EAW60214,EAW60215,AAF03565,O95907,AAI56247,AAI57027 Hs.270285 MCT3|REMP MCT 3|monocarboxylate transporter 3|solute carrier 16 (monocarboxylic acid transporters), member 8|solute carrier family 16 member 8 protein-coding 1347871 SLC16A9 solute carrier family 16, member 9 (monocarboxylic acid transporter 9) 16385451,19503597,19861489,19890391,20037589,20162742,20162743,16344560,14702039,12739169,12477932 220963 NM_194298,AC022027,AC026391,CH471083,AK021827,AK125791,AK172758,AL122071,BC126238,BC130567,BN000144,BX092606,CX784319,DA229807 NP_919274,EAW54194,BAC86293,BAD18743,CAB59247,AAI26239,AAI30568,CAD80155,Q7RTY1,ADR83371 Hs.499709 C10orf36|FLJ43803|MCT9 MCT 9|monocarboxylate transporter 9|solute carrier family 16 (monocarboxylic acid transporters), member 9|solute carrier family 16 member 9 protein-coding 1350724 SLC17A1 solute carrier family 17 (sodium phosphate), member 1 1580863 19556210,19571809,19890391,20162742,8867793,20566650,20884846,20927387,21149283,8288239,19503597,19204726,19084217,14531806,12477932,11704559,10733936,9781053,9545579,7826357 6568 AF362494,AF362495,AF362500,AF362502,AF362504,AL138726,AL391194,CH471087,D83236,AK290783,AK308035,AY780791,BC101745,BC101747,BC143579,BG054690,D28532,DC362172,X71355,NM_005074 NP_005065,AAL04478,AAL04479,AAL04480,AAL04481,AAL04482,CAI19543,EAW55494,BAA25645,BAF83472,AAV98361,AAI01746,AAI01748,BAA05888,CAA50490,Q14916,Q96KL5,Q96KL6,Q96KL7,Q96PF5 Hs.205816 MGC126794|MGC126796|NAPI-1|NPT-1|NPT1 Na(+)/PI cotransporter 1|OTTHUMP00000214413|OTTHUMP00000214415|na/Pi-4|renal Na(+)-dependent phosphate cotransporter 1|renal sodium-dependent phosphate transport protein 1|renal sodium-phosphate transport protein 1|sodium phosphate transporter|sodium-dependent phosphate transport protein 1|sodium/phosphate cotransporter 1|sodium/phosphate type I cotransporter|solute carrier family 17 (vesicular glutamate transporter), member 1|solute carrier family 17 member 1 protein-coding 1318813 SLC17A2 solute carrier family 17 (sodium phosphate), member 2 1580863 9149941,14574404,12477932,19890391 10246 NM_005835,AL138726,CH471087,U91328,BC104822,BC112033,BC143317,BC143323,U90544,BJ993843 NP_005826,CAC69101,CAI19542,EAW55498,EAW55499,EAW55500,AAB82085,AAI04823,AAI12034,AAB53422,O00624 Hs.591802 MGC138238|NPT3 Na(+)/PI cotransporter 3|OTTHUMP00000016130|sodium phosphate transporter 3|sodium-dependent phosphate transport protein 3|sodium/phosphate cotransporter 3|solute carrier family 17 (vesicular glutamate transporter), member 2|solute carrier family 17 member 2 protein-coding 1344101 SLC17A3 solute carrier family 17 (sodium phosphate), member 3 1580863 9149941,18834626,15505377,12477932,20587610,19571809,19862010,19890391,20053405,20162743,20379614,16712791,20810651 10786 NM_001098486,AL138726,CH471087,AK296070,AK296082,AK298271,AK298297,AK298367,NM_006632,BC017952,BX107915,CB163247,DC340735,DC361549,U90545,Z83953 NP_006623,NP_001091956,CAC16542,CAC16543,CAC16544,EAW55495,EAW55496,EAW55497,BAH12250,BAH12253,BAH12747,BAH12751,BAH12767,AAH17952,AAB53423,O00476,Q9H532,Q9H534,ABM82917,ABM86107 Hs.327179 NPT4 Na(+)/PI cotransporter 4|OTTHUMP00000016126|sodium-dependent phosphate transport protein 4|sodium/phosphate cotransporter 4|solute carrier family 17 member 3 protein-coding 1314119 SLC17A4 solute carrier family 17 (sodium phosphate), member 4 1580863 10319585,12672655,12477932 10050 NM_005495,AL391194,CH471087,AB020527,AK024903,AK293354,AK308500,BC109207,BC109208 NP_005486,CAD20154,EAW55492,EAW55493,BAA76663,BAG56870,AAI09208,AAI09209,Q32MB8,Q9Y2C5 Hs.282931 KAIA2138|KIAA2138|MGC129623 Na/PO4 cotransporter|putative small intestine sodium-dependent phosphate transport protein|solute carrier family 17 member 4 protein-coding 1322823 SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5 This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq] 1624224,1580863 7557994,10581036,18695252,18399798,17933575,16303743,16170568,15516337,15510212,15489334,15342556,15172005,15006695,14702039,12794687,12477932,12359136,12121352,11751519,11588980,10947946,10069709,8198127,7573152,7151835,2334213,2010546,19913121,20424173,20628086,19557856,20379614,3961501 1624224 26503 NM_012434,NG_008272,AL121972,AL590428,CH471051,AF244577,AJ387747,AK025880,AK026921,AK075320,AK294068,AK315789,BC020961,BP288187,CR618872 NP_036566,CAI20417,CAI15635,EAW48756,EAW48757,EAW48758,AAF97769,CAB62540,BAC11546,BAG57413,BAG38135,AAH20961,Q9NRA2,ABM82388,ABW03386 Hs.597422 AST|FLJ22227|FLJ23268|ISSD|NSD|SD|SIALIN|SIASD|SLD membrane glycoprotein HP59|sialic acid storage disease|sialin|sodium/sialic acid cotransporter|solute carrier family 17 member 5|solute carrier family 17, member 5 protein-coding 730912 SLC17A6 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 1580863 19839996,20540360,20541370,19156168,19086053,18562601,18155679,18050306,17660252,17531353,16344560,15124103,12477932,11306821,10820226,8889548 57084 NM_020346,AC040936,CH471064,AB032435,AK294502,AK309131,BC069629,BC069640,BC069646,BQ185289,BQ188116,CK823303,DA392769 NP_065079,EAW68324,BAA92874,BAG57719,AAH69629,AAH69640,AAH69646,Q9P2U8 Hs.242821 DNPI|VGLUT2 differentiation-associated BNPI|differentiation-associated Na(+)-dependent inorganic phosphate cotransporter|differentiation-associated Na-dependent inorganic phosphate cotransporter|solute carrier family 17 member 6|vesicular glutamate transporter 2 protein-coding 733841 SLC17A7 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq] 1580863 8632143,10820226,19156168,19086053,18155679,17660252,17531353,16606361,15961236,15653259,14702039,12477932,12107411,11001057,10938000,8889548,19720501,19839996 57030 NM_020309,AC010619,CH471177,AB032436,AK057879,AK091061,AK095659,AK289622,AK294226,AK294405,BC059379,BG701511,BQ636968,BU732143 NP_064705,EAW52485,BAA92875,BAF82311,BAG57530,BAG57657,AAH59379,Q9P2U7 Hs.375616 BNPI|VGLUT1 brain-specific Na(+)-dependent inorganic phosphate cotransporter|brain-specific Na-dependent inorganic phosphate cotransporter|solute carrier family 17 member 7|vesicular glutamate transporter 1 protein-coding 733222 SLC17A8 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 1580863 18674745,18498073,17660252,12477932,12151341,11115382,15102489,16516863,16722234 246213 NM_139319,NM_001145288,AC026110,AC126308,CH471054,AJ459241,AK128319,BC117229,BC143396,NG_021175 NP_647480,NP_001138760,EAW97637,CAD30553,BAG54658,AAI17230,AAI43397,Q8NDX2,ADR83038 Hs.116871 DFNA25|VGLUT3 solute carrier family 17 member 8|vesicular glutamate transporter 3 protein-coding 737319 SLC18A1 solute carrier family 18 (vesicular monoamine), member 1 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM] 1580863 12827358,19060910,20031538,20038947,20468064,7905859,8643547,19156168,18702937,18451639,18249496,18193046,17134514,16936705,16326835,16189177,12871984,12807698,12477932,11431013,20677014 6570 NM_001142324,NM_001142325,NM_001135691,AC025853,CH471080,AK313720,BC006317,BC009387,NM_003053,CR593627,CR604993,CR612722,CR621905,U39905 NP_003044,NP_001135796,NP_001135797,NP_001129163,EAW63760,EAW63761,EAW63762,EAW63763,BAG36463,AAH06317,AAH09387,AAC50472,P54219,Q96GL6,Q9BRE4,ABM83656,ABM84371,ABM86902 Hs.158322 CGAT|VAT1|VMAT1 chromaffin granule amine transporter|solute carrier family 18 member 1|solute carrier family 18, member 1|vesicular amine transporter 1 protein-coding 734009 SLC18A2 solute carrier family 18 (vesicular monoamine), member 2 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM] 1580863 8095030,19328558,19289536,19228741,19156168,18797399,18791800,18599602,18288090,18045777,17985233,17665159,17652604,17442673,17427184,17344033,17233532,16408221,16386370,16339215,16189177,16139173,15988470,15850588,15829504,15489334,15475732,15164054,15135235,12871984,12710012,12477932,12112084,12009896,11997877,11443533,11431013,11279528,9045708,8643547,8373557,8245983,7905859,20544232,21041608,21083670,20665056,20181938,18316816,20677014,12827358,19693267,19874574,20080893,20379614,20468064 6571 NM_003054,AB044401,AL391988,AL731557,CH471066,X94079,AK314997,BC030593,BC108927,BC108928,L09118,L14269,L23205,X71354,BQ416859,DB458870 NP_003045,BAB19009,CAH70348,CAI14828,EAW49428,EAW49429,EAW49430,CAA63824,BAG37493,AAH30593,AAI08928,AAI08929,AAA59877,AAA91853,AAA61290,CAA50489,Q05940,Q4G147,Q99870 Hs.596992 MGC120477|MGC120478|MGC26538|SVAT|SVMT|VAT2|VMAT2 monoamine neurotransmitter transporter|monoamine transporter|solute carrier family 18 member 2|solute carrier family 18, member 2|synaptic vesicular amine transporter|vesicle monoamine transporter type 2|vesicle monoamine/H+ antiporter|vesicular amine transporter 2 protein-coding 732691 SLC18A3 solute carrier family 18 (vesicular acetylcholine), member 3 This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq] 61752,1580863 8071310,19204726,17373700,16763548,15489334,14622097,12759818,12477932,20490865,20831599,12827358,12417445,10883397,10727789,8910293,8860234,7616604,19685929,20379614 61752 6572 NM_003055,AC073366,CH471187,U10554,AK313094,BC007765,U09210 NP_003046,EAW93093,AAB92675,BAG35918,AAH07765,AAA20497,Q16572 Hs.654374 MGC12716|VACHT solute carrier family 18 member 3|solute carrier family 18, member 3|vesicular acetylcholine transporter protein-coding 737399 SLC19A1 solute carrier family 19 (folate transporter), member 1 Transport of folate compounds into mammalian cells can occur via receptor-mediated (see MIM 136430) or carrier-mediated mechanisms. A functional coordination between these 2 mechanisms has been proposed to be the method of folate uptake in certain cell types. Methotrexate (MTX) is an antifolate chemotherapeutic agent that is actively transported by the carrier-mediated uptake system. RFC1 plays a role in maintaining intracellular concentrations of folate.[supplied by OMIM] 735239,1580863 16471213,19105199,19170196,19274320,19571232,19625176,19650776,19651439,19692168,19706844,19729796,19841321,20018840,20036773,20037791,20056620,20233025,20235210,20310006,20371868,20424473,20458436,7826387,8276792,19340000,19336437,19336370,19324355,19172696,19161160,19048631,19020309,19019821,18988749,18830263,18797703,18776693,18676680,18650265,18635682,18629538,18528741,18499665,18427977,18414976,18322994,18182479,18053808,18028428,17983788,17891500,17436311,17404734,17334909,17325736,17323057,17311260,17311259,17306382,17264302,17113562,17035141,16962770,16923800,16917939,16875718,16750224,16365025,16225938,16122883,16115875,15964598,15937947,15922487,15797993,15652157,15564880,15469899,15457444,15337749,15297414,15214842,15068242,14602046,14584080,14551190,12855225,12753319,12673279,12576457,12519783,12477932,12454742,12411325,12228234,12227830,12175915,12144527,12139489,12087110,11857541,11705857,10830953,10347183,9804996,9602167,9570943,9041240,7852378,7763259,7641195,7615551,12707400,20468076,20737570,20824655,20852008,20890936,20335220,12749765,19913121,20544798,20557288,20628086,20647221,20651609,20683905,20718043 735239 6573 NM_194255,AF064602,AL163302,AY089985,AY089986,AY089987,AY089988,BX322561,CH471079,U92868,U92869,U92870,U92871,U92872,U92873,AB209069,AF004354,AK303168,AK307623,AK310797,AK313125,BC003068,BC023005,BC128247,CB959876,CB995207,CR602937,S78996,U15939,U17566,U19720 NP_919231,AAC78834,CAB90483,EAX09331,EAX09332,EAX09333,EAX09334,EAX09335,EAX09336,EAX09337,AAC26162,BAD92306,AAB61417,BAH13909,BAG35945,AAH03068,AAI28248,AAB35058,AAA98442,AAA74914,AAC50180,P41440,Q59GP0,Q9BTX8,Q9UET3,ABM82757,ABM85942 Hs.84190 CHMD|FOLT|IFC1|REFC|RFC1 IFC-1|RFC|folate transporter 1|intestinal folate carrier 1|placental folate transporter|reduced folate carrier protein|solute carrier family 19 member 1|solute carrier family 19, member 1 protein-coding 1318484 SLC19A2 solute carrier family 19 (thiamine transporter), member 2 This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. [provided by RefSeq] 1580863,1599325 19913121,20628086,10542220,3060175,18029348,19064610,17659067,17463047,17331069,16710414,16705148,16373304,16371350,16055442,16015585,15952116,14994241,14622275,14615284,12900388,12477932,12454006,12227830,12065289,10978358,10874303,10391223,10391222,10391221,9399900,8889548,19340000,19423748,19536175,19731322,11286512,20466634 1599325 10560 NM_006996,NG_008255,AF158233,AF160186,AF160756,AJ238413,AL021068,AY288293,CH471067,AB209540,AF135488,AF153330,AF160812,AF272359,AJ237724,AK304021,AK313779,AK316465,BC018514,BU608154 Q7Z7J1,NP_008927,AAD51280,AAD51283,AAD54242,CAB50771,CAI19780,CAI19781,CAI19782,AAP37965,EAW90843,EAW90844,EAW90845,EAW90846,EAW90847,BAD92777,AAD45985,AAD43534,AAF15129,AAK54468,CAB50770,BAG64936,BAG36517,BAH14836,AAH18514,O60779,Q59FC0,Q5TIE1 Hs.30246 TC1|THT1|THTR1|TRMA high affinity thiamine transporter|reduced folate carrier protein (RFC) like|solute carrier family 19 member 2|thTr-1|thiamine transporter 1 protein-coding 1322863 SLC19A3 solute carrier family 19, member 3 SLC19A3 is a member of the reduced folate family of micronutrient transporter genes.[supplied by OMIM] 1580863 3060175,11136550,17463047,16790503,16705148,16371350,16055442,15871139,15815621,15623830,15489334,15328374,15217784,14770311,12861052,12477932,11731220,19423748,19816091 80704 NM_025243,AC064853,AC093762,CH471063,AF271633,AF283317,AI056985,AK301490,AK312464,BC032014,CR595614,CR609013,NG_016359 NP_079519,AAX93157,EAW70875,EAW70876,AAG53879,AAK69539,BAH13497,BAG35371,AAH32014,Q9BZV2,ABM83337,ABM86551 Hs.221597 THTR2 OTTHUMP00000204103|thTr-2|thiamine transporter 2 protein-coding 732972 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 1580863 16344560,19644675,19884611,20155310,20378543,20398908,20410850,20468064,19569082,21084597,16566829,7521911,19360657,19349310,19156168,19152386,19086053,18846501,18624794,18286588,18167356,18096700,17991780,17894418,17646425,17630698,17588938,17360917,17360916,17221839,16858406,16818867,16818866,16800850,16478724,16198020,16061389,15716409,15489334,15164053,15135231,12843260,12477932,11823462,11317217,11242046,10701825,9375691,8782106,8020993,7914198,7859077,16189514,20634426,20424168 6505 BQ008494,BQ029108,DA643262,NG_017044,NM_004170,AF074911,AL136231,AL162587,CH471071,AB008536,AF037982,AK313013,BC033040,CB984615,CK903716,U03506,U06469,U08989 NP_004161,AAC27511,CAI41261,CAI41264,CAH71965,EAW58786,BAB83767,AAC25029,BAG35848,AAH33040,AAA50430,AAA53215,AAA68628,P43005,ABM83351,ABM86565 Hs.444915 EAAC1|EAAT3 excitatory amino acid carrier 1|excitatory amino acid transporter 3|neuronal and epithelial glutamate transporter|sodium-dependent glutamate/aspartate transporter 3|solute carrier family 1 member 1|solute carrier family 1, member 1 protein-coding 732300 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq] 70006,1302517,1580863,1300048 19527721,19660525,19910676,19998491,20193040,20379614,20398908,20410850,7521911,19338517,19283393,19268276,19156168,19151621,19086053,19023027,18838545,18658151,18519826,18378006,18326497,18314905,17920768,17684493,17535102,17311320,17311293,16766085,16567804,16344560,16061389,15822905,15660126,15494981,15337309,15296513,15265858,15246112,15135231,15048885,14702039,14662797,14506254,12950454,12898275,12890621,12578975,12477932,12408226,11994293,11891650,11860269,11792462,11744157,11698255,11357955,11204345,11071482,11038258,11031254,9585360,9539131,9463476,9450673,9110174,8619474,8172925,7587378,7522567,15927426,14982736,20399272,15483603,20688910,20936779 70006,1302517 6506 BX509751,NM_001195728,NG_008727,AC090625,AF510107,AL133330,CH471064,AB209444,AF131756,AK054855,AK057674,AK090810,AK122843,AK298769,AL157452,AY066021,BC031313,BC047052,BC132768,BX538155,BX648750,CR626999,CR627009,CR627022,CR749842,D85884,DA158200,DB465494,U01824,NM_004171,Z32517,CS448965,U03505 CAM28290,NP_001182657,NP_004162,CAM28291,EAW68141,EAW68142,EAW68143,BAD92681,BAG53756,BAG60911,AAL57716,AAI32769,BAA28706,AAA18900,AAA50429,CAA83532,P43004,Q59FL6,CAL69850 Hs.502338 EAAT2|GLT-1 OTTHUMP00000165209|OTTHUMP00000165210|excitatory amino acid transporter 2|excitotoxic amino acid transporter 2|glial high affinity glutamate transporter|glutamate/aspartate transporter II|sodium-dependent glutamate/aspartate transporter 2|solute carrier family 1 member 2|solute carrier family 1, member 2 protein-coding 732126 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 Glutamate and aspartate are excitatory neurotransmitters that have been implicated in a number of pathologic states of the nervous system. Accumulation of extracellular excitatory amino acids can be cytotoxic and may also lower the seizure threshold in epilepsy. EAAT1 (SLC1A3) is a member of a family of high-affinity sodium-dependent transporter molecules that regulate neurotransmitter concentrations at the excitatory glutamatergic synapses of the mammalian central nervous system (Kirschner et al., 1994 [PubMed 8001975]).[supplied by OMIM] 1580863 19736351,19283393,19156168,19139306,19086053,18678877,18657127,18454440,18446307,18081024,17676873,17627080,17581948,17316900,17221839,16877378,16516348,16116111,16061389,16042756,15950021,15718040,15535133,15135231,14749132,14713304,12957496,12911626,12769187,12477932,11826152,19338517,11792462,8647279,7521911,19352218,10864655,10594060,10570036,10519046,9110174,8619474,8218410,8123008,8001975,7859077,7698014,7584044,11752470,10915646,19913121,20628086 6507 BQ019197,NG_015890,NM_001166695,NM_001166696,NM_004172,AC008957,AC010631,CH471119,Z31713,AF070609,AK057823,AK293886,AK295032,AK295754,AK312304,AY954110,BC022285,BC037310,BC054475,CR601776,D26443,DC320625,L19158,U03504 NP_001160167,NP_001160168,NP_004163,EAW55945,EAW55946,CAA83507,BAG57275,BAG58087,BAG58584,BAG35230,AAY28724,AAH37310,AAH54475,BAA05462,AAA50428,P43003,Q4JCQ8,Q7Z5T0,Q8N169 Hs.481918 EA6|EAAT1|FLJ25094|GLAST|GLAST1 GLAST-1|excitatory amino acid transporter 1|sodium-dependent glutamate/aspartate transporter 1|solute carrier family 1 member 3|solute carrier family 1, member 3 protein-coding 1345199 SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 1580863 16820059,18195088,20424473,8125298,7896285,19086053,8603078,8101838,8340364,8910405,14502423,16897601,18638388,18442140,17106422,17081065,16344560,15815621,15489334,12584318,12477932,12050356,11824937,11268453,10933718,9373149 6509 BI553783,CR990382,NM_001193493,NM_003038,AC007386,CH471053,U05235,AB026689,AK126636,AK223486,AK295687,AK298472,AK313052,AK315986,BC007350,BC026216,BC072423,CR621750,CR625932,DA214889,DA218921,L14595,L19444 NP_001180422,NP_003029,AAF03519,EAW99932,EAW99933,AAC51349,BAA94861,BAD97206,BAH12156,BAH12797,BAG35883,BAH14357,AAH26216,AAH72423,AAA02761,AAA19438,P43007,Q53F03,Q9P2X2,ABM82053,ABM85232 Hs.654352 ASCT1|SATT ASCT-1|alanine/serine/cysteine/threonine transporter 1|glutamate/neutral amino acid transporter|neutral amino acid transporter A|solute carrier family 1 member 4 protein-coding 1347799 SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 1580863 12555937,12477932,12175968,12050356,11350958,10196349,10051606,17353931,8702519,18638388,18157695,17676482,17329400,17081983,17081065,16820059,16516348,16435221,16344560,16197915,15848195,15845389,15489334,14702039,14520239,12757936,12584318,10698697,11781704,16169070,18195088,19321927,19615732 6510 NM_005628,NM_001145144,NM_001145145,AC008622,CH471126,AB209738,AF102826,AF105230,AF105423,AF334818,AK055630,AK125222,AK292690,AK293433,AK299137,AK301661,AK316546,BC000062,CR618074,DA031076,U53347,GQ919058 NP_005619,NP_001138616,NP_001138617,EAW57446,EAW57447,BAD92975,AAD09812,AAD09814,AAD27806,AAK77026,BAF85379,BAG56938,BAG61189,BAG63136,BAH14917,AAH00062,AAC50629,Q15758,Q59ES3,Q71UA6,ABM83074,ABM86271,ACX53626 Hs.631582 AAAT|ASCT2|ATBO|FLJ31068|M7V1|M7VS1|R16|RDRC ATB(0)|RD114 virus receptor|RD114/simian type D retrovirus receptor|baboon M7 virus receptor|neutral amino acid transporter B|neutral amino acid transporter B(0)|sodium-dependent neutral amino acid transporter type 2|solute carrier family 1 member 5 protein-coding 732902 SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 1580863 7791878,19156168,19086053,17442044,17360917,17221839,15057824,12477932,11432999,11242047,16169070,20519505,20424473 6511 NM_005071,AC004659,CH471106,AB209199,AK302380,AK312996,BC028721,BC040604,U18244 NP_005062,AAC15754,EAW84456,EAW84457,BAD92436,BAH13691,AAH28721,AAH40604,AAA75314,P48664,Q59GB0,Q8N753 Hs.515217 EAAT4|MGC33092|MGC43671 excitatory amino acid transporter 4|sodium-dependent glutamate/aspartate transporter|solute carrier family 1 member 6 protein-coding 1323639 SLC1A7 solute carrier family 1 (glutamate transporter), member 7 1580863 20424473,19086053,9108121,15737648,14702039,12477932,12107412,19913121,20628086 6512 AK093921,NM_006671,AL445183,CH471059,BC000651,BC012119,BC017242,CD672672,U76362 NP_006662,CAH72594,CAH72595,EAX06754,EAX06755,BAG52786,AAH00651,AAH12119,AAH17242,AAB53971,O00341,Q9BW45,ABM83225,ABM86424 Hs.104637 AAAT|EAAT5|FLJ36602 excitatory amino acid transporter 5|excitatory amino acid transporter 5 (retinal glutamate transporter)|retinal glutamate transporter|solute carrier family 1 member 7 protein-coding 1349725 SLC20A1 solute carrier family 20 (phosphate transporter), member 1 Retrovirus receptors allow infection of human and murine cells by various retroviruses. The receptors that have been identified at the molecular level include CD4 (MIM 186940) for human immunodeficiency virus, Rec1 for murine ecotropic virus, and GLVR1 for gibbon ape leukemia virus (see MIM 182090). These 3 proteins show no homology to one another at the DNA or protein level. GLVR1 is a sodium-dependent phosphate symporter.[supplied by OMIM] 8041748,12761501,18729813,18095154,17494632,17339538,16790504,16527991,15815621,15641067,15489334,12477932,12205090,12097582,11009570,9889306,9528951,8411375,7966619,7929240,2078500,1672162,1531369,1309898,19913121,20628086,19726692,20817733,21048031 6574 NM_005415,AC079922,AF102059,AF102060,AF102061,AF102062,AF102063,CH471217,EU043383,AK123420,AK312738,BC019944,BC075818,BX647555,CR610552,CR619726,L20859 NP_005406,AAY14922,AAD20286,EAW73597,EAW73598,EAW73599,ABS82764,BAG53902,BAG35609,AAH19944,AAH75818,AAA52572,Q8WUM9,ABM84488,ABM85164 Hs.187946 DKFZp686J2397|FLJ41426|GLVR1|Glvr-1|PIT1|PiT-1 gibbon ape leukemia virus receptor 1|leukemia virus receptor 1 homolog|phosphate transporter 1|sodium-dependent phosphate transporter 1|solute carrier family 20 member 1 protein-coding 1352627 SLC20A1P1 solute carrier family 20 (phosphate transporter), member 1 pseudogene 1 9841928 192127 NG_001019,AB019437 pseudo 733735 SLC20A2 solute carrier family 20 (phosphate transporter), member 2 1580863 8302848,17494632,16790504,15955065,15308749,12477932,12205090,11932396,7745689,1656098,20379614 6575 NM_006749,AC090739,AC107885,CH471080,AK291202,AC093367,AK295952,AK314774,BC028600,L20852 NP_006740,EAW63213,EAW63214,EAW63215,BAF83891,BAG58733,BAG37311,AAH28600,AAA18018,Q08357,ABM82464,ABM85653 Hs.653173 GLVR2|Glvr-2|MLVAR|PIT-2 gibbon ape leukemia virus receptor 2|hPit2|murine leukemia virus, amphotropic, receptor for|phosphate transporter 2|pit2|sodium-dependent phosphate transporter 2|solute carrier family 20 member 2|solute carrier family 20, member 2 protein-coding 736350 SLC21A1 solute carrier family 21, member 1 625763,1598620 625763,1598620 6577 732626 SLC22A1 solute carrier family 22 (organic cation transporter), member 1 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq] 20143233,20371711,16141367,15817714,15499200,15389554,15135235,14697261,12719534,12439218,12439217,11752456,11447227,11388889,11136971,10541551,9933568,9605850,9260930,9078256,8902060,7690421,1727476,20660041,9187257,11543633,19381165,19343046,19336679,19141860,19021069,18669873,18559609,18483382,17971819,17934801,17701831,17635184,17609683,17568400,17476361,17393420,17220237,17111267,16597591,20679960,20680652,20682687,20720558,12477932,19536068,19584153,19591196,19833842,19898263,19950608,19954617,20173083,20363215,20379614,20424473,20429798,20445576,20921968,20959405,21044367 6580 NM_003057,NM_153187,AJ243995,AL353625,CH471051,AK289887,AV684761,BC126364,U77086,X98332 NP_003048,NP_694857,CAB95971,CAH72016,EAW47603,EAW47604,EAW47605,EAW47606,BAF82576,AAI26365,AAB67703,CAA66977,O15245,ADR83047 Hs.117367,Hs.727054 HOCT1|OCT1|oct1_cds organic cation transporter 1|solute carrier family 22 member 1 protein-coding 1602951 SLC22A10 solute carrier family 22, member 10 11327718,16554811,12372408,16712791,12477932 387775 NM_001039752,AP001880,AB075876,AK296299,AK298430,BC171744,BK001421,BX091233,CB162810,DR003989 NP_001034841,BAD38658,BAG59000,BAG60651,DAA01503,Q63ZE4,Q68CJ0,AAI60176 Hs.188982 OAT5|hOAT5 organic anion transporter 5|solute carrier family 22 (organic anion/cation transporter), member 10|solute carrier family 22 member 10 protein-coding 1353940 SLC22A11 solute carrier family 22 (organic anion/urate transporter), member 11 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. [provided by RefSeq] 1580863 15037815,16236806,10660625,15291761,15102942,19400747,19343046,18985008,18414001,17602283,17229912,16554811,15576633,15489334,14702039,12477932,12024214,12023506,11909604,11907186,11855680,11327718,9373149,8125298,20668102,15553237,18501590,19503597,19710015,19861489,19890391,19934028,20015291,20140636,20884846 55867 NM_018484,AC044790,AP001092,AP006288,CH471076,AB026116,AK075127,AK075224,AK129930,AK222869,AK290791,AK296083,AK309931,BC034384,CR598571,CR605725,CR608154,HC007278 NP_060954,AAK68155,EAW74269,EAW74270,BAA95316,BAC11419,BAC11483,BAC85252,BAD96589,BAF83480,BAG58838,AAH34384,Q8NBZ3,Q9NSA0,ABW03648,ABW03305,CBH19444 Hs.220844 MGC34282|OAT4|hOAT4 organic anion transporter 4|solute carrier family 22 (organic anion/cation transporter), member 11|solute carrier family 22 member 11 protein-coding 1323543 SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 The protein encoded by this gene is a urate transporter and urate-anion exchanger which regulates the level of urate in the blood. This protein is an integral membrane protein primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599244,1599245,1580863 16920156,16837472,16385546,16059895,15772829,15338274,15327384,14702039,14531806,12975309,12477932,15304510,12024214,15772301,16775029,14694169,19019168,18936980,18824160,18701466,18670416,18492088,18409511,17891652,17891408,17567994,17445045,20714133,19503597,19762362,19833602,19890391,20162742,20162743 1599244,1599245 116085 NM_144585,NM_153378,NG_008110,AC044790,AP001092,CH471076,DQ514593,DQ514595,DQ514596,AB050269,AB071863,AK055737,AK122599,AK309588,AK315061,AY358183,BC026291,BC053348,DQ655912,DQ514594 NP_653186,NP_700357,AAK68156,EAW74271,EAW74272,EAW74273,EAW74274,EAW74275,EAW74276,ABF74570,ABF74571,ABF74572,ABF74573,BAB68364,BAB96750,BAG51565,BAG53617,AAQ88550,AAH26291,AAH53348,Q05CF4,Q96S37 Hs.174424 OAT4L|RST|URAT1 OTTHUMP00000069173|organic anion transporter 4-like protein|renal-specific transporter|solute carrier family 22 (organic anion/cation transporter), member 12|solute carrier family 22 member 12|urate anion exchanger 1|urate transporter 1 protein-coding 1315683 SLC22A13 solute carrier family 22 (organic anion transporter), member 13 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq] 1580863 10072596,19282870,18411268,16344560,15489334,12477932,10231028,10213508,19536068,20379614 9390 NM_004256,AB026898,AP000499,AP006193,CH471055,AB010438,AK298375,AK315301,BC035973,DA629093,DA629311 NP_004247,BAA77625,EAW64526,EAW64527,EAW64528,BAA76350,BAG60613,BAG37706,AAH35973,Q9Y226 Hs.225941 OAT10|OCTL1|OCTL3|ORCTL-3|ORCTL3 organic cation transporter-like 3|organic cationic transporter-like 3|organic-cation transporter like 3|solute carrier family 22 member 13|solute carrier family 22, member 13 protein-coding 1315106 SLC22A14 solute carrier family 22, member 14 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. [provided by RefSeq] 1580863 10213508,10072596,15489334,12477932,10231028,20379614,20424473 9389 NM_004803,AB026898,AP006193,CH471055,AB011082,AK130497,AK315317,BC075070,BC075071,BC126482,BC130543,BC144079 NP_004794,BAA77626,EAW64529,BAA76351,BAG37720,AAH75070,AAH75071,AAI26483,AAI30544,Q9Y267,ADR83219 Hs.165559 MGC163415|OCTL2|OCTL4|ORCTL4 ORCTL-4|OTTHUMP00000209056|OTTHUMP00000209057|organic cation transporter-like 4|organic cationic transporter-like 4|solute carrier family 22 (organic cation transporter), member 14|solute carrier family 22 member 14 protein-coding 1322509 SLC22A15 solute carrier family 22, member 15 Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM] 1580863 12975309,12477932,12372408,14702039,20379614 55356 NM_018420,AL357137,AL365318,CH471122,AK125072,AL353933,AY145501,AY358258,BC026358,BC030090,BC070033,AK055633 NP_060890,CAH70379,CAH70380,CAH70685,CAH70686,EAW56640,EAW56641,BAG54132,CAB89246,AAN52927,AAQ88625,AAH26358,Q8IZD6,ABM83293,ABM86502 Hs.125482 DKFZp761G0313|FLIPT1|PRO34686 flipt 1|fly-like putative organic ion transporter 1|fly-like putative transporter 1|solute carrier family 22 (organic cation transporter), member 15|solute carrier family 22 member 15|trans-like protein protein-coding 1344136 SLC22A16 solute carrier family 22 (organic cation/carnitine transporter), member 16 Organic ion transporters, such as SLC22A16, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM] 17581421,17559346,17473959,17197897,15963465,14702039,12477932,12384147,12372408,12089149,20037140,20179710,20453000 85413 NM_033125,AC002464,AL050350,CH471051,AB055798,AF268892,AK057306,AK304546,AY145502,BC012014,BC037247,BC047565 NP_149116,AAB67044,CAI42512,CAI42514,EAW48313,EAW48314,EAW48315,BAC23062,AAK58593,BAB71419,BAG65342,AAN52928,AAH12014,AAH47565,Q86VW1,Q96ER0 Hs.520319 CT2|FLIPT2|OCT6|OKB1|dJ261K5.1 OTTHUMP00000017786|WUGSC:RG331P03.1|carnitine transporter 2|flipt 2|fly-like putative organic ion transporter 2|fly-like putative transporter 2|organic cation transporter 6|organic cation transporter OKB1|organic cation/carnitine transporter 6|solute carrier family 22 (organic cation transporter), member 16|solute carrier family 22 member 16 protein-coding 1348088 SLC22A17 solute carrier family 22, member 17 1580863 18029348,19047093,17253959,16377569,15489334,12477932 51310 NM_020372,NM_016609,AJ243122,AL049829,CH471078,AJ243653,AK308661,AK311241,BC020565,BC030559,BC090870,BC111015,BX161416,BX647316,CR590139,CR607061,DQ658848 NP_065105,NP_057693,CAC17762,EAW66165,EAW66166,CAC01119,AAH20565,AAH90870,AAI11016,CAD61891,ABG45942,Q8WUG5 Hs.373498 24p3R|BOCT|BOIT|NGALR|NGALR2|NGALR3|hBOIT 24p3 receptor|NGAL receptor|brain-type organic cation transporter|lipocalin-2 receptor|neutrophil gelatinase-associated lipocalin receptor|potent brain type organic ion transporter|solute carrier family 22 (organic cation transporter), member 17|solute carrier family 22 member 17 protein-coding 1350768 SLC22A18 solute carrier family 22, member 18 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region as well as the transport of chloroquine- and quinidine-related compounds in the kidney. Two alternative transcripts encoding the same isoform have been described. [provided by RefSeq] 9499412,9744804,18996451,16624517,16344560,16314844,15489334,15342556,12477932,11925925,11076855,9802569,9751628,9570947,9520460,19414484,20201924,20705733 5002 NM_183233,NM_002555,NG_011512,AC013791,AF313150,CH471158,AB012083,AF028738,AF030302,AF037064,AF059663,AF070479,AL832892,AW452749,BC015571,BG489795,BG684685,BM561526,BP350681,CR611681,DA582280 NP_899056,NP_002546,EAX02528,EAX02529,EAX02530,BAA32779,AAB82727,AAC17492,AAC04787,AAC14725,AAC23505,CAH10416,AAH15571,Q69YM4,Q96BI1,ABW03589 Hs.50868 BWR1A|BWSCR1A|DKFZp667A184|HET|IMPT1|ITM|ORCTL2|SLC22A1L|TSSC5|p45-BWR1A Beckwith-Wiedemann syndrome chromosome region 1, candidate A|ORCTL-2|OTTHUMP00000012598|beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein|efflux transporter-like protein|imprinted multi-membrane spanning polyspecific transporter-related protein 1|imprinted multi-membrane-spanning polyspecific transporter-related protein 1|organic cation transporter-like 2|organic cation transporter-like protein 2|p45 Beckwith-Wiedemann region 1A|p45-Beckwith-Wiedemann region 1 A|solute carrier family 22 (organic cation transporter), member 1-like|solute carrier family 22 member 1-like|solute carrier family 22 member 18|tumor-suppressing STF cDNA 5 protein|tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein protein-coding 1352553 SLC22A18AS solute carrier family 22 (organic cation transporter), member 18 antisense 18721868,15489334,15175115,12477932,9570947,9520460 5003 NM_007105,AC013791,CH471158,AF035407,AF037066,BC030237 NP_009036,EAX02526,EAX02527,AAC17497,AAC04789,AAH30237,Q8N1D0 Hs.300076 BWR1B|BWSCR1B|ORCTL2S|SLC22A1LS|p27-BWR1B Beckwith-Wiedemann region 1B|Beckwith-Wiedemann syndrome chromosome region 1, candidate b|beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein|organic cation transporter-like 2 antisense|organic cation transporter-like protein 2 antisense protein|p27-Beckwith-Wiedemann region 1 B|solute carrier family 22 (organic cation transporter), member 1-like antisense|solute carrier family 22 member 1-like antisense protein|solute carrier family 22 member 18 antisense protein protein-coding 1342518 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq] 1580863 18029348,19536068,19625999,19833842,20053795,20173083,20383146,20429798,20067471,20371711,9687576,9605850,8902060,7690421,1727476,9933568,9078256,16024787,9260930,19483665,19343046,18728938,18559608,18551044,18508876,18414781,18401339,17971819,17495125,17393420,17220237,17111267,17060063,16990275,16951202,16513443,16368738,16314463,16141367,15817714,15499192,15135235,12538837,12477932,12388397,12142729,12089365,11953440,11483518,11447227,10942111,19913121,20628086,20679960,20682687,20383145 6582 NM_003058,AJ251885,AL162582,CH471051,AB075951,AK290787,BC030978,BC039899,CR618035,X98333 NP_003049,CAB96133,CAI20003,CAI20004,EAW47601,EAW47602,BAC02720,BAF83476,AAH30978,AAH39899,CAA66978,O15244,Q5T7Q5 Hs.436385 MGC32628|OCT2 hOCT2|organic cation transporter (OCT2)|organic cation transporter 2|solute carrier family 22 member 2 protein-coding 1602395 SLC22A20 solute carrier family 22, member 20 SLC22A20 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM] 14702039,16341674,17714910,16478971,15869325,15369770,12477932 440044 AK094565,BM826695,DN831898,DY654625,DY654969,NR_033396,NM_001004326,AP000828,AP003068,CH471076,DQ053017,AK131327,BC146850,DN831899 NP_001004326,EAW74372,BAD18487,AAI46851,A6NK97 Hs.725665,Hs.532372 FLJ16331|FLJ37246|Oat6 organic anion transporter 6|solute carrier family 22 member 20 protein-coding 1347503 SLC22A23 solute carrier family 22, member 23 SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM] 19422935,19174780,19068216,17714910,12477932,9373149,8125298,20379614,21102463,19760754,20886065,20921969,21072187 63027 AL160398,AL445309,CH471087,AJ420525,AK000691,AK025033,AK025827,AK172770,AK225936,AK308282,AK308943,AL110245,AL512737,BC022217,BC038748,BC040876,BC128580,BC128581,NM_021945,NM_015482,BC090851,CR610126 NP_056297,CAI12303,CAI12304,CAI40959,CAI40960,CAI40961,EAW55132,EAW55133,EAW55134,EAW55135,BAB15054,BAB15250,BAD18753,CAB53695,AAH22217,AAH40876,AAI28581,AAI28582,A1A5C7,Q5JS57,Q7L9D0,Q9UFY2,NP_068764 Hs.713588 C6orf85|DKFZp434F011|FLJ22174 OTTHUMP00000015966|OTTHUMP00000213955|OTTHUMP00000213957|OTTHUMP00000213958|chromosome 6 open reading frame 85|ion transporter protein|solute carrier family 22 member 23 protein-coding 1603866 SLC22A24 solute carrier family 22, member 24 SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM] 17714910,16189514,12477932 283238 NM_001136506,AP001858,BC034394 NP_001129978,AAH34394,Q8N4F4,ABM81754,ABM84909 Hs.375139 MGC34821|NET46 hypothetical protein mgc34821|solute carrier family 22 member 24 protein-coding 1606386 SLC22A25 solute carrier family 22, member 25 18466105,17714910,15054140,14702039,12477932 387601 NM_199352,AP001880,AP003420,CH471076,AK091990,AK127610,AY437532,AY517500,BC101314,BC101315,BC101316,BC101317 NP_955384,EAW74138,EAW74139,EAW74140,EAW74141,EAW74142,EAW74143,BAC03786,BAC87056,AAR84082,AAS76641,AAI01315,AAI01316,AAI01317,AAI01318,Q494Y1,Q6T423,Q6ZS98,Q8NAW1,AAI60048 Hs.332119 HIMTP|MGC120420|UST6 organic anion transporter UST6|putative UST1-like organic anion transporter|solute carrier family 22 member 25 protein-coding 1351828 SLC22A3 solute carrier family 22 (extraneuronal monoamine transporter), member 3 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq] 70010,1580863 20371711,17474147,10966924,9933568,19651985,19591196,19549807,19423541,19366831,19318432,19219857,19198611,18794092,18295396,18264097,18253050,17477885,14690517,12768439,12538837,12110607,11770002,11682442,11129104,10942111,10196521,9830022,9632645,17393420,17010131,16141367,16024787,15135235,14702039,20717903,20878950,21071540,20562519,20690139,12477932,15553237,19789190,19866473,19900942,19902474,20379614,20429798,20450899,20460480 70010 6581 NM_021977,AJ251884,AJ403946,AL355506,AL591069,CH471051,AF078749,AJ001417,AK096980,AK314590,BC144280,CR619195 NP_068812,CAB96132,CAC39443,CAI20340,CAI16539,EAW47599,AAD20977,CAA04751,BAG37164,O75751,Q5SYN6,Q96KH7,Q9NQC0,AAI56539,AAI72500 Hs.567337 EMT|EMTH|OCT3 EMT organic cation transporter 3|extraneuronal monoamine transporter|organic cation transporter 3|solute carrier family 22 member 3 protein-coding 733281 SLC22A4 solute carrier family 22 (organic cation/ergothioneine transporter), member 4 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq] 16344053,16333318,16255050,16249223,16246312,15955786,15883854,15832501,15795384,15751072,15693005,15685536,15489334,15459889,15184985,15107849,14608356,14531806,12788076,12504088,12477932,12436193,12388627,10215651,9808712,9703985,16344054,20224991,20846217,20877624,21061378,21102463,16361305,16729965,9426230,19412005,19214536,19158815,19141711,19131452,19103559,18804983,18756601,18715515,18709696,18668679,18641280,18614543,18466472,18433468,18338763,18328148,18274826,18162085,18087673,18064451,17786191,17700366,17609685,17609683,17509030,17476680,17451203,17387389,17340776,17213842,17100974,17006998,16835882,16821265,16796743,16773684,16771961,16670523,16652416,16519819,16519742,16469794,16441470,16437728,16373276,15523054,15553237,19439218,19528813,19536068,19581171,19605748,19656490,19659785,19660151,19814996,19881261,20020740,20031577,20379614,20485362 6583 NM_003059,NG_012129,AC008599,AC034220,CH471062,CS240059,AB007448,AK310818,BC028313,CR605004,Y09881 NP_003050,EAW62340,CAJ56219,BAA23356,AAH28313,CAA71007,Q9H015,ABM81742,ABM84898 Hs.310591 MGC34546|MGC40524|OCTN1 ET transporter|ergothioneine transporter|integral membrane transport protein|organic cation transporter octn1|organic cation/carnitine transporter 1|solute carrier family 22 member 4 protein-coding 733710 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq] 1580608,1580609,1580610,1580611,1580863,1624241 15553237,19578876,19581171,19659785,19735486,19814996,20020740,20031577,20208395,20370797,20379614,20485362,20846217,21061378,21102463,3974805,18756601,18715515,18698678,18668679,18646596,18641280,18433468,18338763,18337137,18274826,18162085,18005709,17977516,17786191,17725851,17703373,17509700,17509030,17476680,17451203,17417720,17387389,17340776,17274673,17213842,17100974,17006998,16931768,16835882,16796743,16773684,16771961,16670523,16652416,16519742,16490820,16469794,16441470,16437728,16373276,16361305,16344560,16344054,16344053,16333318,16255050,15955786,15714519,15685536,15647998,15523054,15499185,15489334,15487009,15486076,15303004,15238359,15107849,14702039,14684825,14665638,14506273,12802501,12684216,12477932,12408185,12183691,10679939,10612840,10559218,10545605,10480371,10454528,10425211,10072434,9634512,9618255,9685390,9916797,19412005,19343046,19214536,19141711,19131452,19091402,18804983,18762717,19913121,20558736,20574985,20601676,20628086,20860503,20881960 1580608,1580609,1580610,1580611,1624241 6584 GN007377,NM_003060,NG_008982,AB016625,AC004628,AC118464,CH471062,AB015050,AB209484,AB291606,AF057164,AK128610,AK313230,AY429569,BC012325,DA186237,DA567722 CAX30725,NP_003051,BAA36712,EAW62337,EAW62338,EAW62339,BAA29023,BAD92721,BAF45812,AAC24828,BAC87527,BAG36041,AAH12325,O76082,Q59FH6,ABM84597,ABM86744 Hs.443572 CDSP|FLJ46769|OCTN2|OCTN2VT high-affinity sodium dependent carnitine cotransporter|high-affinity sodium-dependent carnitine cotransporter|organic cation transporter 2|organic cation transporter 5|organic cation/carnitine transporter 2|solute carrier family 22 (organic cation transporter), member 5|solute carrier family 22 member 5|solute carrier family 22, member 5 protein-coding 619572 SLC22A6 solute carrier family 22 (organic anion transporter), member 6 The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq] 68822,1580863 15037815,9950961,19060904,19403644,19400747,19343046,19308960,19088254,19082692,19034961,18818201,18365245,17585018,17502342,17353191,17344191,17038320,16920720,16648942,16189514,16164645,16046403,16024787,15914676,15864112,15284288,15200431,15145940,15039295,14984259,14749323,14702039,14644751,12874449,12477932,12472777,12429554,11855680,10964714,10462545,10049739,9887087,9762842,19854166,19892921 68822 9356 NM_153278,NM_153276,NM_153277,AJ249369,AP001858,CH471076,EU567146,AB009697,AB009698,AF057039,AF097490,AF104038,AF124373,AJ251529,AJ271205,AK055764,AK091879,NM_004790,AK298374,BC033682 NP_004781,NP_695010,NP_695008,NP_695009,CAB77184,EAW74129,EAW74130,EAW74131,EAW74132,ACB21049,BAA75072,BAA75073,AAC70004,AAD19356,AAD10052,AAD55356,CAB94830,CAB97249,BAG51569,BAG52435,BAG60612,AAH33682,Q4U2R8,ABM83006,ABM86199 Hs.369252 FLJ55736|HOAT1|MGC45260|OAT1|PAHT|ROAT1 PAH transporter|hPAHT|hROAT1|organic anion transporter 1|para-aminohippurate transporter|renal organic anion transporter 1|solute carrier family 22 member 6|solute carrier family 22, member 6 protein-coding 732686 SLC22A7 solute carrier family 22 (organic anion transporter), member 7 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 70525,1580863 9650585,19343046,18216183,16344560,12477932,12023506,11907186,11855680,11327718,10773670,19854166 70525 10864 NM_153320,NM_006672,AL583834,CH471081,EU562669,AA705161,AF097518,AF210455,AI928177,AK290796,AK290806,AK309570,AY050498,BC017963,BC033805,DA640137,AK314822 NP_696961,NP_006663,CAI14461,CAI14462,CAI14463,CAI14464,CAI14465,CAI14466,EAX04171,EAX04172,EAX04173,EAX04174,EAX04175,EAX04176,ACB21045,AAD37091,AAG43523,BAF83485,BAF83495,AAL12496,AAH17963,AAH33805,Q5T047,Q5T051,Q8WWC3,Q9Y694,ABM84540,ABM87843,BAG37344 Hs.485438 MGC24091|MGC45202|NLT|OAT2 hOAT2|liver-specific transporter|novel liver transporter|organic anion transporter 2|solute carrier family 22 member 7 protein-coding 732952 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. [provided by RefSeq] 1580863 17578901,17556638,17502342,16793932,16648942,16455804,16291576,15846473,15644426,15489334,14984259,14586168,12811365,12477932,11912245,11855680,15037815,10049739,19343046,19034961,18414781,17585018,20237588,15342556,16344560,19878671,19956635 9376 NM_004254,AP001858,CH471076,AB042505,AB209692,AF097491,AK298341,AK298351,AK307850,AK313187,BC022387,BP276255,DA628705,DA633836,NM_001184732,NM_001184733,NM_001184736 NP_004245,EAW74133,EAW74134,EAW74135,BAB47393,BAD92929,AAD19357,BAG60589,BAG60596,BAG36004,AAH22387,Q8TCC7,ABM82943,ABM86133,NP_001171661,NP_001171662,NP_001171665 Hs.266223 MGC24086|OAT3 hOAT3|organic anion transporter 3|solute carrier family 22 ,member 8|solute carrier family 22 member 8 protein-coding 1343950 SLC22A9 solute carrier family 22 (organic anion transporter), member 9 1580863 15553237,19371258,20379614,12409283,18501590,18466105,18414781,18365245,17393504,17341544,15489334,15037815,14702039,12477932,11327718,10660625 114571 NM_080866,AP000484,AP001880,CH471076,AB062418,AB074812,AF440402,AJ295270,AK074246,BC022379,BC126288 NP_543142,EAW74146,EAW74147,EAW74148,BAB83517,BAF51552,AAP97316,CAC82910,BAB85030,AAH22379,AAI26289,Q8IVM8,ADR83039 Hs.502772 FLJ23666|HOAT4|OAT4|OAT7|UST3H|ust3 organic anion transporter 4|organic anion transporter 7|solute carrier family 22 (organic anion/cation transporter), member 9|solute carrier family 22 member 9 protein-coding 1342862 SLC23A1 solute carrier family 23 (nucleobase transporters), member 1 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 634186,1580863 10395795,17474147,9804989,19527514,19379732,19243932,18818748,18791929,18676680,18636124,18619416,18417304,18247577,18094143,17664139,17008880,16357110,16344560,15993839,15489334,15084584,14702039,12477932,19019335,18845575,12388072,12381735,11984580,11584081,11396616,10631088,10556521,10556483,10471399,10331392,20588054,11895172,17258485,17575980,19170196,19216494,19625176,19692168,19741195,20453000,20519558 634186 9963 NM_152685,NM_005847,AC135457,AF375875,CH471062,AF058317,AF098277,AF170911,AI478520,AJ250807,AJ269477,AK092655,AK290789,AK300935,BC019225,BC050261,DA385445,AK298337 NP_689898,NP_005838,AAK97398,EAW62106,AAC78804,AAF22490,AAF24759,CAC15384,CAB58119,BAG52585,BAF83478,BAG62564,AAH19225,AAH50261,Q9UHI7,BAG60585 Hs.643467 MGC22361|SLC23A2|SVCT1|YSPL3 Na(+)/L-ascorbic acid transporter 1|hSVCT1|sodium-dependent vitamin C transporter 1|sodium-dependent vitamin C transporter-1|solute carrier family 23 (nucleobase transporters), member 2|solute carrier family 23 member 1|yolk sac permease-like molecule 3 protein-coding 1353786 SLC23A2 solute carrier family 23 (nucleobase transporters), member 2 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq] 634186,1580613,1580863 9804989,10471399,10556521,19346260,19243932,18845575,18791929,18676680,18636124,18619416,18614995,18247577,17664139,17291984,17092984,17012227,16380174,16357110,15993839,15921655,15489334,15340249,15060139,14993613,12477932,12168954,11984580,11780052,11396616,10915794,10748165,10395795,10331392,9039502,20588054,10631088,18417304,19162177,19170196,19216494,19232538,19625176,19692168,19926816,20379614,20453000 634186,1580613 9962 NM_203327,NM_005116,AL109841,AL121890,AL389886,CH471133,AB075494,AF058319,AF092511,AF164142,AI742576,AJ269478,AJ292318,AK296304,AK297253,AY380556,BC013112,BC073895,D87075,DQ011866,EF032501 NP_976072,NP_005107,CAC16126,CAI42480,EAX10438,EAX10439,EAX10440,EAX10441,EAX10442,AAC78806,AAD11783,AAF80493,CAB58120,CAC83100,BAG59003,BAG59732,AAQ79775,AAH13112,BAA13244,AAY26157,ABK34450,Q4ZGM1,Q5JSP3,Q9UGH3 Hs.516866 KIAA0238|NBTL1|SLC23A1|SVCT2|YSPL2 Na(+)/L-ascorbic acid transporter 2|hSVCT2|nucleobase transporter-like 1 protein|sodium-dependent vitamin C transporter 2|sodium-dependent vitamin C transporter-2|solute carrier family 23 (nucleobase transporters), member 1|solute carrier family 23 member 2|yolk sac permease-like molecule 2 protein-coding 1345783 SLC23A3 solute carrier family 23 (nucleobase transporters), member 3 1580863 18391951,14702039,12477932,11181995,7588067,20546612 151295 NM_001144890,NM_001144889,NM_144712,AC068946,CH471063,AK055730,AK298256,AK298277,BC030243,DC361649,DQ294736,DQ294737 NP_001138362,NP_001138361,NP_653313,EAW70681,EAW70682,EAW70683,BAB70999,BAH12744,BAH12748,AAH30243,ABC17635,ABC17636,Q2PYN5,Q6PIS1,Q6ZV11,ABM81945,ABM85125 Hs.124565 E2BP3|FLJ31168|SVCT3|Yspl1 E2-binding protein 3|HPC E2-binding protein 3|Na(+)/L-ascorbic acid transporter 3|sodium-dependent vitamin C transporter 3|solute carrier family 23 member 3 protein-coding 1342925 SLC23A4 solute carrier family 23 (nucleobase transporters), member 4 12845532,20042597 641842 NG_006548,AC009542,CH236950 pseudo 736859 SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 SLC24A1 belongs to a family of potassium-dependent sodium/calcium exchangers. Members of this family have 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments (Schnetkamp, 2004 [PubMed 14770312]).[supplied by OMIM] 1580863 9478004,17474147,7539424,9856482,14770312,12693957,12600216,10662833,10608890,9734811,20850105,12477932,20139978 9187 NM_004727,AC011939,AC027220,CH471082,AB014602,AF026132,AF062921,AF062922,AK300633,AK304006,BC012630,BC029407,BC117263,BC143375 NP_004718,EAW77739,EAW77740,EAW77741,BAA31677,AAB97832,AAC16732,AAC77912,BAG62323,BAG64922,AAI17264,AAI43376,O60721,Q17RM9 Hs.173092 HsT17412|KIAA0702|NCKX|NCKX1|RODX Na(+)/K(+)/Ca(2+)-exchange protein 1|retinal rod Na+/Ca+/K+ exchanger|retinal rod Na-Ca+K exchanger|sodium/calcium/potassium exchanger|sodium/potassium/calcium exchanger 1 protein-coding 730928 SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 The outer segment of retinal rod and cone photoreceptors contains electrogenic sodium-calcium exchangers which mediate a light-induced decrease in free calcium concentration. This function in cones is performed by SLC24A2 (Prinsen et al., 2000 [PubMed 10662833]).[supplied by OMIM] 1580863 12525183,20231282,8889548,19240061,18166528,17164249,17038313,15909993,15611132,15583008,15489334,15196038,15164053,12502543,12477932,10662833 25769 AK127092,BU736451,NM_001193288,NM_020344,AL133281,AL158077,AL158206,CH471071,AF097366,AF177987,BC069622,BC143889,BC037528 NP_001180217,NP_065077,CAH71736,CAH71737,CAH74108,CAH74109,CAH73020,CAH73021,EAW58633,AAF21810,AAF25811,AAH69622,AAI43890,Q9UI40 Hs.283014 FLJ45149|NCKX2 Na(+)/K(+)/Ca(2+)-exchange protein 2|retinal cone Na-Ca+K exchanger|sodium/potassium/calcium exchanger 2|solute carrier family 24 member 2 protein-coding 735914 SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM] 1580863 11780052,11294880,20031604,20379614 57419 NM_020689,AL034425,AL049647,AL121761,AL121830,AL136090,AL139429,AL139827,CH471133,AF169257,AF288087 NP_065740,CAC36051,CAC36050,CAC12640,CAC36052,CAI17163,CAC13155,EAX10219,EAX10220,AAG12988,Q9HC58,AAI41433 Hs.654790 NCKX3 Na(+)/K(+)/Ca(2+)-exchange protein 3|sodium calcium exchanger|sodium/potassium/calcium exchanger 3|solute carrier family 24 member 3 protein-coding 1314247 SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 Potassium-dependent sodium/calcium exchangers, such as NCKX4, are thought to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Li et al., 2002 [PubMed 12379639]).[supplied by OMIM] 18483556,17952075,15489334,14702039,12477932,12379639,20585627,19609347,19710684,20379614 123041 NM_153648,NM_153646,NM_153647,AL118559,CH471061,AF520704,AF520705,AF520706,AK096171,AK295059,AK295234,AL834225,BC037863,BC069653,BX648995,NG_023408,BC050357,BC034805 NP_705934,NP_705932,NP_705933,EAW81485,EAW81486,EAW81487,EAW81488,EAW81489,AAM76070,AAM76071,AAM76072,BAC04715,BAG58108,BAG58227,CAD38903,AAH69653,Q8NFF2 Hs.385530 FLJ38852|NCKX4|SHEP6|SLC24A2 Na(+)/K(+)/Ca(2+)-exchange protein 4|sodium/potassium/calcium exchanger 4|solute carrier family 24 member 4 protein-coding 1321543 SLC24A5 solute carrier family 24, member 5 This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq] 16357253,19384953,19336370,19060277,18650849,18637132,18166528,17999355,17952075,17081065,16847698,15489334,14625281,12477932,19944766,20691427 283652 NM_205850,NG_011500,AC090526,CH471082,AF348468,BC073944,BC113628,BC113630,BC143950,DQ665306,DQ665307 NP_995322,EAW77335,AAQ15116,AAH73944,AAI13629,AAI13631,AAI43951,ABG66958,ABG66959,Q71RS6,ADR83033 Hs.710240 JSX|NCKX5|SHEP4 Na(+)/K(+)/Ca(2+)-exchange protein 5|ion transporter JSX|sodium/potassium/calcium exchanger 5|solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 protein-coding 1349643 SLC24A6 solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM] 15489334,15060069,14702039,14625281,12477932,8889548 80024 NM_024959,AC010178,CH471054,AK025886,AK056179,AK094074,AK095092,AK124000,AK293216,AY601759,AY601760,BC020463,BC032397,BC033070,BC098360,BC098430,BM560555,BM980568,CA309108 NP_079235,EAW98048,EAW98049,EAW98050,EAW98051,BAB15271,BAG52808,BAG56755,AAT35807,AAT35808,AAH98360,Q6J4K2 Hs.286194 FLJ22233|NCKX6|NCLX Na(+)/K(+)/Ca(2+)-exchange protein 6|sodium/potassium/calcium exchanger 6|solute carrier family 24 member 6 protein-coding 1343333 SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 1580863 8666394,17353931,19445897,19240061,18706393,15489334,12477932,9254007,8776594,8660975,20877624,20448665,19505435,19654186,8514800,8944226 6576 U25147,AC004463,CH471176,L76134,X96924,AK292313,AK298204,BC004980,BC008061,BC018590,BI560375,CR590532,CR599048,CR603634,CR606422,CR606950,CR607685,CR622978,CR625389,DR006840,L75823,L77567,NM_005984,HM037273,NR_033687 AAB08515,P53007,Q6LAP8,ABM83842,ABM87164,ABM87169,NP_005975,EAX03048,EAX03049,EAX03050,EAX03051,AAL40091,CAA65633,BAF85002,BAG60474,AAH04980,AAH08061,AAL40090,ADI78884 Hs.725671 CTP|SEA|SLC20A3 OTTHUMP00000196405|citrate transport protein|solute carrier family 20 (mitochondrial citrate transporter), member 3|solute carrier family 25 member 1|tricarboxylate carrier protein|tricarboxylate transport protein, mitochondrial protein-coding 1350550 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 The dicarboxylate carrier catalyzes the transport of dicarboxylates such as malate and succinate across the mitochondrial membrane in exchange for phosphate, sulfate, and thiosulfate, thus supplying substrates for the Krebs cycle, gluconeogenesis, urea synthesis, and sulfur metabolism.[supplied by OMIM] 634162,1580863 18029348,20877624,20562859,9733776,16303743,16189514,16043481,16027120,15489334,12477932,10585886,10072589,15117959,11483508,19447967,19060904 634162 1468 NM_012140,AC139530,AJ131612,CH471099,CQ783360,AJ131613,AK075249,AK303808,BC007355,BC015797 NP_036272,CAB60007,EAW89681,EAW89682,CAF86566,CAB59892,BAC11497,BAG64761,AAH07355,AAH15797,Q9UBX3,ABM84189,ABM87591 Hs.548187 DIC dicarboxylate ion carrier|mitochondrial dicarboxylate carrier|solute carrier family 25 member 10 protein-coding 732504 SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 1580863 20562859,16712791,16920706,1457818,15489334,12939596,12477932,10072597,9639574,9110174,8769314,8619474,8597574,16169070,19615732,19913121,20628086,17082780,20877624 8402 CR456834,CR590793,CR590943,CR591200,CR591304,CR595953,CR598517,CR600572,CR603391,CR606322,CR609603,CR613107,CR613184,CR615026,CR616117,CR617034,CR617848,CR620583,CR625483,CR625556,AC109333,CH471108,X66114,AF070548,AK290376,AK313010,BC006508,BC006519,BC016294,BC016473,BC017170,NM_003562,AA937945,AC004771,BI752999,BM047391,CB155476,NM_001165417,NM_001165418 AAH17170,CAG33115,Q02978,Q6IBH0,ABM82078,ABM85257,NP_003553,EAW90389,EAW90390,EAW90391,EAW90392,CAA46905,AAC28637,BAF83065,AAH06508,AAH06519,AAH16294,NP_001158889,NP_001158890 Hs.184877 OGC|SLC20A4 2-oxoglutarate carrier|OGCP|mitochondrial 2-oxoglutarate/malate carrier protein|solute carrier family 20 (oxoglutarate carrier), member 4|solute carrier family 25 member 11 protein-coding 1313056 SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in the gene encoding this protein may be associated with risk of autism. [provided by RefSeq] 1358576,1580863 11566871,9722566,19598235,19401682,19360665,18996845,18607376,18348195,18180767,17894412,17693006,17497669,17237342,17151801,16648338,16263864,16205742,16122696,15494407,15056512,14702039,12477932,10965105,10702666,10369257,17353931,19058789,19041431,19913066,20877624 1358576 8604 NM_003705,NG_011781,AC068039,CH471058,AJ496568,AK022828,AK054941,AK091071,AK294638,BC016932,DN993435,Y14494 NP_003696,AAY24134,EAX11196,EAX11197,CAD43090,BAG51120,BAG52276,BAG57817,AAH16932,CAA74834,O75746,ABM82466,ABW03408 Hs.470608 AGC1|ARALAR araceli hiperlarga|calcium binding mitochondrial carrier superfamily member Aralar1|calcium-binding mitochondrial carrier protein Aralar1|mitochondrial aspartate glutamate carrier 1|solute carrier family 25 member 12 protein-coding 1323000 SLC25A13 solute carrier family 25, member 13 (citrin) This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599241,1599242,1580863 11566871,10642534,12851387,19401682,19232506,19036621,18620775,18392553,18273444,17982687,17092749,17000460,16928234,16344560,16278034,16059747,15489334,12853948,12477932,12424587,12111366,11793471,11432966,11343052,11281457,11153906,10610724,10369257,9373149,8125298,18578996,20614727,20233664,20458766,20739017,18029348,20877624,20927635,19596235,19598235,19615732,20376801,20379614 1599241,1599242 10165 NG_012247,NM_001160210,NR_027662,AC002450,AC002540,AC004458,AC084368,AC096775,AF164530,CH236949,CH471091,AF118838,AJ496569,AK000766,AK025227,AK025779,AK222864,AK294629,BC006566,CR606013,DA118296,DA696723,Y17571,NM_014251 Q546F9,Q75KX8,Q75M55,Q9UJS0,ABM83777,ABM87097,NP_055066,NP_001153682,AAB67049,AAB70112,AAS07441,AAS07513,AAS07527,AAF28473,EAW76748,EAW76749,AAD38501,CAD43091,BAD96584,BAH11828,AAH06566,CAB62206,Q53GR7 Hs.489190 ARALAR2|CITRIN|CTLN2 calcium-binding mitochondrial carrier protein Aralar2|mitochondrial aspartate glutamate carrier 2|solute carrier family 25 member 13 protein-coding 736693 SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. The gene product has an N-terminal hydrophobic domain that is not present in other UCPs. Two splice variants have been found for this gene. [provided by RefSeq] 1580863 9852133,18018477,17066476,16941493,15772651,15489334,12975309,12477932,12051969,11701769,10928996,10772343,10620491,19910678 9016 NM_003951,NM_022810,AL035423,CH471107,AF078544,AF155809,AF155810,AF155811,AK296155,AK297499,AK309433,AY358099,BC119666,BC119667,CR606300,CR609375,CR611993,NG_012850 NP_003942,NP_073721,CAB41251,CAI42439,CAI42440,CAI42441,EAX11801,EAX11802,EAX11803,EAX11804,AAD04346,AAG29582,AAG29583,AAG29584,BAG58894,BAG59913,AAQ88466,AAI19667,AAI19668,O95258,Q5JY88 Hs.194686 BMCP1|MGC149543|UCP5 BMCP-1|UCP 5|brain mitochondrial carrier protein 1|mitochondrial uncoupling protein 5|solute carrier family 25 member 14 protein-coding 1322973 SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome. 1580863,1599239,1599240 10369256,18978333,17825324,16376511,16256388,15498874,15489334,14759633,12807890,12477932,11814739,11668643,11552031,11355015,10805333,8889548,20574716,19242930,20877624 1599239,1599240 10166 NM_014252,NG_012248,AJ309943,AL161614,CH471075,AA948095,AF112968,AF177333,AK296862,AK313602,AL538057,BC002702,BI461478,BU726339,DB505424,CR597405 NP_055067,CAC83972,CAH72773,CAH72774,EAX08630,AAD45238,AAG17977,BAG59425,BAG36368,AAH02702,Q5VZD9,Q9Y619,ABM83930,ABM87249 Hs.646645 D13S327|HHH|ORC1|ORNT1 mitochondrial ornithine transporter 1|ornithine transporter 1|solute carrier family 25 member 15 protein-coding 1348384 SLC25A15P solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 Y-linked pseudogene 12815422 246130 NG_002817,AC019099 SLC25A15P|SLC25A15PY1 pseudo 1322697 SLC25A16 solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq] 1580863 2575220,14702039,12477932,11158296,8444471,1457817,16385451,20379614,20877624 8034 NM_152707,AL136233,AL713888,CH471083,AK123772,AK290255,AK295287,AK298510,BC001407,BC030266,BE280946,BU618210,CR607953,CR609697,M31659 NP_689920,CAI15116,EAW54298,BAF82944,BAG58271,BAG60716,AAH30266,AAA36329,P16260,ABM82636,ABM85813 Hs.180408 D10S105E|GDA|GDC|HGT.1|MGC39851|ML7|hML7 graves disease autoantigen|graves disease carrier protein|mitochondrial solute carrier protein homolog|solute carrier family 25 member 16 protein-coding 1322988 SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 SLC25A17 is a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers.[supplied by OMIM] 1580863 10591208,11402059,8889548,11121399,10704444,9874197,15489334,15461802,14709540,14702039,12477932,12445829,16756494 10478 NM_006358,AL049764,CH471095,CQ871242,Z98048,AK094062,AK292924,AK298215,AK300553,BC005957,BC012998,BC024741,BC039064,BU595416,BU686766,BX647991,CR456577,CR598344,CR607643,CR610082,CR612075,CR624010,Y12860 NP_006349,CAI20333,EAW60389,EAW60390,EAW60391,EAW60392,EAW60393,CAH56802,CAI20491,BAF85613,BAG60485,BAG62259,AAH05957,AAH12998,CAG30463,CAA73367,O43808,CAK54609,CAK54908,ABM84064,ABM87421 Hs.474938 PMP34 34 kDa peroxisomal membrane protein|OTTHUMP00000199240|peroxisomal membrane protein (34kD)|peroxisomal membrane protein PMP34|solute carrier family 25 member 17 protein-coding 1350192 SLC25A18 solute carrier family 25 (mitochondrial carrier), member 18 1580863 15489334,15461802,14702039,12477932,11897791,11566871,11381032,20877624 83733 NM_031481,AC004019,CH471193,AJ428203,AK095706,AK308974,AK309110,AY008285,BC016954,BC031644,CR456578 NP_113669,EAW57760,EAW57761,CAD21008,AAG22855,AAH31644,CAG30464,Q9H1K4,CAK54610,CAK54909,ABM84586,ABM86585 Hs.282982,Hs.629929 GC2 GC-2|OTTHUMP00000196212|glutamate/H(+) symporter 2|mitochondrial glutamate carrier 2|solute carrier family 25 member 18 protein-coding 1343771 SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq] 1624242,1580863 11226231,18280798,17035501,16344560,16303743,15539640,15489334,14702039,12477932,12185364,11474176,9373149,8889548,8125298,19798730,20877624 1624242 60386 AK075239,AK097882,AK225881,AL833387,AY346372,BC001075,BC005120,BM455504,BU177306,BU607955,CR590620,CR619889,CR623625,CR624640,CR626101,DA605220,DB482052,NM_001126121,NM_001126122,NG_008274,AC022211,AJ301616,CH471099,CQ783884,AA743427,AF182404,AJ251857,NM_021734 BAC11492,BAG53545,CAI46136,AAQ54327,AAH01075,AAH05120,Q5JPC1,Q6V9R7,Q8NBT6,Q9HC21,ABM83686,ABM86983,NP_068380,NP_001119593,NP_001119594,CAC37793,EAW89267,EAW89268,EAW89269,CAF86907,AAG16903,CAC27560 Hs.514470 DNC|MCPHA|MUP1|TPC mitochondrial thiamine pyrophosphate carrier|mitochondrial uncoupling protein 1|solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 protein-coding 1347291 SLC25A2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 Located between the protocadherin beta and gamma gene clusters on chromosome 5, this intronless gene encodes a protein that is highly similar to an ornithine transporter localized in the mitochondrial inner membrane. The encoded protein most likely plays a role in metabolism as a mitochondrial transport protein. [provided by RefSeq] 1580863 19240061,12948741,12807890,12477932,11230163,11004451,10716726,10380929,20877624 83884 NM_031947,NG_000012,AC005618,CH471062,AF332005,AF378119,AY208943,BC069458,BC100935,BC100936,BC100937 NP_114153,EAW61967,AAK26320,AAM94902,AAO31753,AAH69458,AAI00936,AAI00937,AAI00938,Q9BXI2 Hs.97647 MGC119151|MGC119153|ORC2|ORNT2 mitochondrial ornithine transporter 2|ornithine transporter 2|solute carrier family 25 member 2 protein-coding 732535 SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq] 1580863,2317584 9399886,11257506,16054041,18307102,17508264,15515015,15489334,15365988,15057979,12859414,12477932,11592821,10697964,10384384,9837782,9733094,9686371,9533014,1598097,16169070,19748481,20877624 2317584 788 NM_000387,NG_008171,AC134028,CH471055,Y17775,AK301744,AK312962,BC001689,BI913588,BQ018220,CR607188,CR620282,DC360427,Y10319 NP_000378,EAW64929,CAB55356,BAG63207,BAG35801,AAH01689,CAA71367,O43772,ABM83525,ABM86754 Hs.13845 CAC|CACT OTTHUMP00000210385|carnitine/acylcarnitine carrier protein|carnitine/acylcarnitine translocase|mitochondrial carnitine/acylcarnitine carrier protein|solute carrier family 25 member 20 protein-coding 1347032 SLC25A20P solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 789 NG_001087,AJ000401,AL034343 CACTP|SLC25A20P pseudo 1350119 SLC25A21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM] 727306,1580863 19240061,15489334,12477932,11083877,19913121,20628086,20877624,20379614 727306 89874 HB883165,HC940574,NM_030631,AL079303,AL079304,AL121775,AL162464,CH471078,AJ278148,AK289575,BC101521,BC113365,NM_001171170 CBF65810,CBU90681,ADR82918,NP_085134,EAW65851,CAC27562,BAF82264,AAI01522,AAI13366,Q9BQT8,NP_001164641 Hs.601579 MGC126570|ODC|ODC1 mitochondrial 2-oxodicarboxylate carrier|oxodicarboxylate carrier|solute carrier family 25 member 21 protein-coding 1317247 SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 The SLC25 gene family encodes mitochondrial carriers that transport a variety of metabolites across the inner mitochondrial membrane (Palmieri, 2004 [PubMed 14598172]). SLC25A22, also known as GC1, is 1 of the 2 mitochondrial glutamate/H+ symporters, the other being SLC25A18 (MIM 609303).[supplied by OMIM] 1580863 19780765,11897791,17353931,15592994,15489334,14702039,14598172,12477932,11566871,18029348,20562859 79751 AA723654,NM_001191060,NM_001191061,NM_024698,AP006621,CH471158,AJ428202,AK023106,AK290481,AK311038,AL832423,BC019033,BC023545,NG_023407,BC024212 NP_001177989,NP_001177990,NP_078974,EAX02385,EAX02386,EAX02387,EAX02388,EAX02389,CAD21007,BAB14407,BAF83170,AAH19033,AAH23545,AAH24212,Q9H936,ABM83846,ABM86865 Hs.99486 FLJ13044|GC1|NET44 GC-1|glutamate/H(+) symporter 1|mitochondrial glutamate carrier 1|solute carrier family 25 member 22 protein-coding 1343183 SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 1580863 15801905,15716113,15123600,15054102,12477932,17207965,20877624,14702039 79085 AK054901,AK074579,AK294514,AK295484,AW379976,AY750170,BC001656,BG706035,CR602513,AK027562,AC010503,CH471139,AJ512835,NM_024103,AJ619962,AJ619988,AJ879080,AJ879081,AJ879082,AJ879083 BAB70825,BAC11071,BAG57727,BAG58407,AAU95077,AAH01656,Q4LBC4,Q4LBC5,Q9BV35,ADQ32408,CAI51685,NP_077008,EAW69087,EAW69088,EAW69089,CAD55563,CAF04059,CAF04494,CAI51682,CAI51683,CAI51684 Hs.356231 APC2|MCSC2|MGC2615|SCaMC-3 calcium-binding mitochondrial carrier protein SCaMC-3|mitochondrial ATP-Mg/Pi carrier protein 2|mitochondrial Ca(2+)-dependent solute carrier protein 2|mitochondrial Ca2+-dependent solute carrier protein 2|short calcium-binding mitochondrial carrier 3|small calcium-binding mitochondrial carrier protein 3|solute carrier family 25 member 23 protein-coding 1607032 SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 15123600,15054102,12477932,11230166,18029348,20877624,20379614 29957 NM_013386,NM_213651,AL359258,AL390036,CH471156,AF123303,AJ619961,AJ619987,AK292567,AK304165,AL050209,BC014519,BC029377,BC029905,BC068010,BC068561,BQ685792,DC340944,DC416591,AK316304,AK316506 NP_037518,NP_998816,CAI14512,CAI14513,CAI13622,CAI13623,EAW51254,EAW51255,AAF28888,CAF04058,CAF04493,BAF85256,BAG65052,AAH14519,AAH68561,Q6NUK1,ACE87696,ACE87008,BAH14675,BAH14877 Hs.656870 APC1|DKFZp586G0123|SCAMC-1 calcium-binding mitochondrial carrier protein SCaMC-1|calcium-binding transporter|mitochondrial ATP-Mg/Pi carrier protein 1|mitochondrial ATP-Mg/Pi transporter|mitochondrial Ca(2+)-dependent solute carrier protein 1|short calcium-binding mitochondrial carrier 1|small calcium-binding mitochondrial carrier protein 1|solute carrier family 25 member 24 protein-coding 1351086 SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 15123600,15054102,12975309,12645546,12477932,11572484,20583170,20877624 114789 AK290991,AL559911,AY358515,BC005163,BC036889,BC044631,BC061925,BC089448,BC103930,BC103931,BC103932,BC103933,BX642627,CR598512,NM_001006642,NM_052901,NM_001006643,AL360268,AL590708,CH471090,AB067483,AJ619963,AJ619989,AJ619990,AJ619991,AJ619992,AK290705,NM_001006641 BAF83680,AAQ88879,AAH05163,AAH89448,AAI03931,AAI03932,AAI03933,AAI03934,Q6KCM7,NP_001006642,NP_001006643,NP_443133,NP_001006644,CAH73133,CAH73134,CAH73135,CAH73136,CAI13826,CAI13827,CAI13836,CAI13838,EAW87738,EAW87739,BAB67789,CAF04060,CAF04495,CAF04496,CAF04497,CAF04498,BAF83394 Hs.5476 KIAA1896|MCSC|MGC105138|MGC119514|MGC119515|MGC119516|MGC119517|PCSCL|RP11-395P17.4|SCAMC-2 calcium-binding mitochondrial carrier protein SCaMC-2|mitochondrial ATP-Mg/Pi carrier protein 3|mitochondrial Ca(2+)-dependent solute carrier protein 3|mitochondrial Ca2+-dependent solute carrier|short calcium-binding mitochondrial carrier 2|small calcium-binding mitochondrial carrier 2|small calcium-binding mitochondrial carrier protein 2|solute carrier family 25 member 25|solute carrier family 25, member 25, isoform a protein-coding 1318797 SLC25A26 solute carrier family 25, member 26 Mitochondrial carriers, including SLC25A26, are a family of transport proteins found mostly in the inner membranes of mitochondria. They shuttle metabolites and cofactors through the mitochondrial membrane (Agrimi et al., 2004 [PubMed 14674884]).[supplied by OMIM] 1580863 14674884,16641997,16344560,14702039,12477932,18029348,20877624,21076409 115286 AC092034,CH471055,AJ580932,AK092495,AK096876,AK291873,AX747571,BC003399,BC012852,BX358127,CR592739,CR601150,CR606146,CR616539,CR619193,CR620013,CR621283,CR749718,DA420010,NM_173471,AC145425,AC170165,BI822084,DA845619,NM_001164796,NR_028475 NP_775742,EAW65448,EAW65449,EAW65450,EAW65451,CAE45652,BAG52559,BAG53388,BAF84562,AAH12852,CAI46206,Q5HCH6,Q70HW3,NP_001158268 Hs.379386 DKFZp434E079|FLJ77340|SAMC OTTHUMP00000195109|OTTHUMP00000195110|S-adenosylmethionine carrier protein|S-adenosylmethionine mitochondrial carrier protein|mitochondrial S-adenosylmethionine transporter|solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26 protein-coding 1344458 SLC25A27 solute carrier family 25, member 27 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. [provided by RefSeq] 1580863 20877624,10025957,18977241,18755175,17601350,17066476,17035241,16775390,16378686,14702039,12975309,12477932,11994670,10928996,10772343,10620491,8889548,19150400,19536655,20545631 9481 NM_004277,AL591242,CH471081,AF110532,AK090871,AK291427,AK295233,AK302906,AK315940,AY358711,BC033091,CB243903 NP_004268,CAH73900,CAH73901,CAH73903,CAH73904,EAX04298,EAX04299,AAD16995,BAF84116,BAG58226,BAG64076,BAH14311,AAQ89951,AAH33091,O95847,Q5VTS5,Q5VTS6,Q5VTS8,Q5VTS9,Q8N518 Hs.40510 FLJ33552|RP11-446F17.2|UCP4 UCP 4|mitochondrial uncoupling protein 4|uncoupling protein 4 protein-coding 1312988 SLC25A28 solute carrier family 25, member 28 1580863 15489334,15164054,14702039,12477932,12107412,11297739,16385451,20877624 81894 CR591608,CR601812,CR601821,CR605062,NM_031212,AL353719,CH471066,AF267854,AF327402,AF327403,AJ303077,AJ303078,AK056782,AL831943,BC015951,BC047312,BC058937,BC064541,BC076399,BC094821,CD672723,CR590395 Q96A46,NP_112489,CAI16900,CAI16901,EAW49863,EAW49864,EAW49865,EAW49866,AAG44723,AAK49519,AAK49520,CAC27996,CAC27997,CAH10774,AAH47312,AAH58937,AAH76399,AAH94821 Hs.403790 DKFZp547C109|MFRN2|MRS3/4|MRS4L|NPD016 OTTHUMP00000020257|hMRS3/4|mitochondrial RNA splicing protein 3/4|mitochondrial RNA-splicing protein 3/4 homolog|mitochondrial iron transporter 2|mitoferrin-2|putative mitochondrial solute carrier protein-coding 1317684 SLC25A29 solute carrier family 25, member 29 1580863 20877624,14702039,12882971,12477932,19287344 123096 AL157871,CH471061,AK095532,AK096294,AK123821,AK172788,AK289627,AK310069,AL832299,BC132964,BC132966,BX247983,CR592557,CR598575,CR600250,CR600978,CR606012,CR614751,NM_001039355,CR618322 NP_001034444,EAW81692,EAW81693,EAW81694,EAW81695,BAG53079,BAC04751,BAG53964,BAD18767,BAF82316,AAI32965,AAI32967,CAD62317,Q8N8R3 Hs.578109 C14orf69|CACL|FLJ38975 CACT-like|OTTHUMP00000197038|carnitine-acylcarnitine translocase like|mitochondrial carnitine/acylcarnitine carrier protein CACL protein-coding 732727 SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq] 8144629,8168843,1777677,19405953,17273968,16303743,15984930,15489334,15324660,14702039,12477932,9733094,9373149,8575787,8125298,20877624 5250 CR611288,CR614591,CR616614,CR616876,CR621240,CR621579,CR625413,X60036,BC003504,BC004345,BC006455,BC011574,BC011641,BC014019,BC015379,BC051367,BC068067,BI458030,BX647062,CR590721,CR590743,CR592190,CR593986,CR594933,CR596810,CR599567,CR600130,CR600339,CR603083,CR604716,CR606951,CR608626,CR609226,CR610653,CR610729,BC001328,NM_005888,NM_002635,NG_011702,AC013283,CH471054,CS185525,X77337,AB064666,AK057575,AK074759,AK092689,AK222658,AK316598,BC000998,NM_213611 CAA42641,Q00325,Q53HC3,Q6MZF9,Q8NCF7,ABM81884,ABW03346,AAH01328,AAH03504,AAH04345,AAH06455,AAH11574,AAH11641,AAH14019,AAH15379,AAH51367,CAE46080,NP_998776,NP_005879,NP_002626,EAW97595,EAW97596,EAW97597,EAW97598,EAW97599,EAW97600,CAJ42706,CAB56611,CAB56612,BAB93517,BAC11187,BAG52596,BAD96378,BAG38185,AAH00998 Hs.290404 OK/SW-cl.48|PHC PTP|mitochondrial phosphate carrier protein|phosphate carrier protein, mitochondrial|phosphate transport protein|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 3|solute carrier family 25 member 3 protein-coding 1606937 SLC25A30 solute carrier family 25, member 30 Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM] 20877624,15809292,14702039,12477932 253512 NM_001010875,AL627107,CH471075,AK074457,AK094133,AK095465,AK302967,AL832206,BC129808,BC132739,BC136760,BC144401 NP_001010875,EAX08739,BAG52822,BAG53060,BAG64115,AAI32740,AAI36761,Q5SVS4,ADR82925 Hs.591230 KMCP1 kidney mitochondrial carrier protein 1|kidney mitochondrial carrier protein-1 protein-coding 1606496 SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 Mitochondrial ADP/ATP carriers, such as SLC25A31, are nuclear-coded mitochondrial proteins that catalyze the exchange of ATP generated in mitochondria by ATP synthase (see MIM 108729) against ADP produced in cytosol by most energy-consuming reactions (Dolce et al., 2005 [PubMed 15670820]).[supplied by OMIM] 17137571,16381901,15670820,15489336,12477932,11256614,11230166,11076863,18029348,20060930,20877624 83447 NM_031291,AC093591,CH471056,AJ863129,AL136857,AY550240,BC022032,BG773445 CAI05952,NP_112581,AAY40974,EAX05199,EAX05200,CAB66791,AAT42263,AAH22032,Q9H0C2,CAL38140 Hs.149030 AAC4|ANT4|DKFZp434N1235|SFEC35kDa ADP,ATP carrier protein 4|ADP/ATP translocase 4|ANT 4|adenine nucleotide translocase 4|adenine nucleotide translocator 4|solute carrier family 25 member 31|sperm flagellar energy carrier protein protein-coding 1605933 SLC25A32 solute carrier family 25, member 32 Folate metabolism is distributed between the cytosolic and mitochondrial compartments. SLC25A32 is a transporter that shuttles folates from the cytoplasm into mitochondria (Titus and Moran, 2000 [PubMed 10978331]).[supplied by OMIM] 20877624,10978331,19362304,15489334,15342556,14702039,12477932 81034 NM_030780,AC012213,CH471060,AF283645,AK027531,AK027787,AK074452,AK125492,AK300748,BC021893,BP274577 NP_110407,EAW91877,EAW91878,AAG37834,BAB55180,BAB55368,BAG54205,BAG62417,AAH21893,Q9H2D1 Hs.607819 FLJ23872|MFT|MFTC mitochondrial folate transporter/carrier protein-coding 1604265 SLC25A33 solute carrier family 25, member 33 SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14715278,12887330,12477932,20453889,20877624 84275 NM_032315,AL928921,AL954705,CH471130,AF495714,AJ880283,BC004991,BC073135,CR593565,CR594441,CR595626,CR620898 NP_115691,CAI17318,CAI17271,EAW71620,AAM18051,CAI54244,AAH04991,AAH73135,Q9BSK2 Hs.568613 BMSC-MCP|MGC4399 PNC1 protein|bone marrow stromal cell mitochondrial carrier protein|huBMSC-MCP|mitochondrial carrier protein|novel mitochondrial carrier protein|solute carrier family 25 member 33 protein-coding 1606920 SLC25A34 solute carrier family 25, member 34 SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 20877624,16949250,14702039,12477932 284723 NM_207348,AL450998,CH471167,AK024244,AL832282,BC027998,CR749264 NP_997231,CAH70849,EAW51747,AAH27998,CAH18120,Q6PIV7 Hs.631867 DKFZp781A10161|RP11-169K16.2 solute carrier family 25 member 34 protein-coding 1605787 SLC25A35 solute carrier family 25, member 35 SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 20877624,16949250,14702039,12477932 399512 NM_201520,AC135178,CH471108,AK097536,AY498866,BC041597,BC052233,BC101329,BC101330,BC105995 NP_958928,EAW90062,EAW90063,BAC05091,AAR92153,AAI01331,AAI05996,Q3KQZ1,AAI01330 Hs.118918 FLJ40217|MGC120446|MGC120448 solute carrier family 25 member 35 protein-coding 1605658 SLC25A36 solute carrier family 25, member 36 15831516,19010793,16344560,16169070,14702039,12887330,12477932,20877624,20944657 55186 NM_001104647,NM_018155,AC108727,AC132032,CH471052,AK001480,AK296785,AL049246,AL136803,BC014064,BC019859,BC036272,BM552452,BQ718950,BQ771812,CR602139,DA593079 NP_001098117,NP_060625,EAW79011,EAW79012,EAW79013,BAA91715,BAG59363,CAB66737,AAH14064,Q96CQ1,ACE87098,ACE86423 Hs.144130 DKFZp564C053|FLJ10618 solute carrier family 25 member 36 protein-coding 1605395 SLC25A37 solute carrier family 25, member 37 SLC25A37 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 19187226,16949250,16511496,16303743,15489334,14702039,12477932,11845285,10931946,9373149,8125298,20877624,19805291 51312 NM_016612,AC051642,CH471080,CQ783918,AF113696,AF116630,AF116640,AF155660,AF223466,AF495725,AK074708,AK075313,AK093931,AK127666,AK223194,AL833186,AY032628,BC015013,BC033834,BC132799,BC132801,BI460337,BM926580,CR592142 NP_057696,EAW63617,CAF86924,AAF71053,AAF71063,AAF67479,AAF64141,AAQ06679,BAD96914,CAH10415,AAK38154,AAH15013,AAI32800,AAI32802,Q71JB2,Q9NPB5,Q9NYZ2,Q9P1J9,ADR83141 Hs.596025,Hs.658208,Hs.726050 HT015|MFRN|MFRN1|MSC|MSCP|PRO1278|PRO1584|PRO2217 mitochondrial iron transporter 1|mitochondrial solute carrier protein|mitoferrin|mitoferrin-1|predicted protein of HQ2217 protein-coding 1606272 SLC25A38 solute carrier family 25, member 38 SLC25A38 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 19731322,19412178,16949250,16344560,12477932,9373149,8125298,16169070,17207965 54977 NG_016931,NM_017875,AC099332,AC104850,CH471055,AK000558,AK026356,AK225388,BC013194,BQ574159,CR457242,CR591050,CR614324,CR619847,CR621188,DB113609 NP_060345,EAW64579,EAW64580,EAW64581,BAA91253,AAH13194,CAG33523,Q96DW6,ADQ31832 Hs.369615 FLJ20551|FLJ22703 solute carrier family 25 member 38 protein-coding 1604622 SLC25A39 solute carrier family 25, member 39 SLC25A39 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 20877624,16949250,15489334,14702039,12477932,11256614,11230166,11139402,10810093,8889548,19656490 51629 NM_001143780,AC003043,CH471178,AB209576,AF119864,AF151827,AF317711,AK026060,AK289357,NM_016016,AK294085,AK295478,AK301139,AL133584,BC001398,BC009330,BC011178,BC096819,BU678976,CR592282,CR593702,CR594793,CR596200,CR597204,CR597981,CR599080,CR600839,CR601587,CR603632,CR604586,CR605364,CR605651,CR606690,CR610093,CR611356,CR613206,CR614240,CR614562,CR616742,CR616754,CR616958,CR617700,CR618969,CR623712,CR625111,CR625811,CV573041 NP_057100,NP_001137252,EAW51602,EAW51603,EAW51604,EAW51605,EAW51606,EAW51607,BAD92813,AAF69618,AAD34064,AAG60687,BAB15341,BAF82046,BAG57426,BAG58405,BAG62731,CAB63728,AAH01398,AAH09330,AAH96819,Q59F84,Q9BZJ4 Hs.514216 CGI-69|CGI69|FLJ22407 solute carrier family 25 member 39 protein-coding 732748 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 1581261,1580618,1580619,1580620,1580621,1580622,1580863 20843780,2823266,16507998,10926541,10620603,19425506,19232058,18852887,18575922,18504126,17420318,16887100,16556444,16155110,16120388,16107323,16020522,15792871,15551024,15489334,15231833,14729611,12750404,12750393,12707443,12565915,12477932,12450408,12140186,12112115,12039962,11809823,11756613,11756592,11193032,11181702,11175251,10364542,9748162,8644740,8479824,8103757,2829183,2547778,2541251,1582253,16511342,16492162,16354571,16429131,15832179,15817944,15725353,15638722,15142377,12149099,20160640,20528917,12663490,15033717,20698827,11287411,19965780,20007455,20181062,8619474,9110174,9874241,20504995,20877624 1581261,1580618,1580619,1580620,1580621,1580622 291 HQ206346,HQ206347,HQ206348,HQ206349,HQ206350,HQ206351,HQ206352,HQ206353,HQ206354,HQ206355,HQ206356,HQ206357,HQ206358,HQ206359,HQ206360,HQ206361,HQ206362,HQ206363,HQ206364,HQ206365,HQ206366,HQ206367,HQ206368,HQ206369,HQ206370,HQ206371,HQ206372,HQ206373,HQ206374,HQ206375,HQ206376,HQ206377,HQ206378,HQ206379,HQ206380,HQ206381,HQ206382,HQ206383,HQ206384,HQ206385,NM_001151,AC093824,CH471056,J04982,AB209764,AK291902,BC008664,BC061589,BC063643,BG707401,CR598134,CR611257,CR614607,CR615898,J02966,J03593,AC112237,AF052119,BI544547,NG_013001,AC093592 ADP92317,ADP92318,ADP92319,ADP92320,ADP92321,ADP92322,ADP92323,ADP92324,ADP92325,ADP92326,ADP92327,ADP92328,ADP92329,ADP92330,ADP92331,ADP92332,ADP92333,ADP92315,ADP92316,ADP92294,ADP92295,ADP92296,ADP92297,ADP92298,ADP92299,ADP92300,ADP92301,ADP92302,ADP92303,ADP92304,ADP92305,ADP92306,ADP92307,ADP92308,ADP92309,ADP92310,ADP92311,ADP92312,ADP92313,ADP92314,NP_001142,EAX04655,EAX04656,AAA51736,BAD93001,BAF84591,AAH08664,AAH61589,AAH63643,AAA61223,AAA36751,P12235,Q59EP7,ABM82473,ABM85661 Hs.246506 AAC1|ANT|ANT1|PEO2|PEO3|T1 ADP,ATP carrier protein 1|ADP,ATP carrier protein, heart/skeletal muscle|ADP/ATP translocase 1|ANT 1|adenine nucleotide translocator 1 (skeletal muscle)|heart/skeletal muscle ATP/ADP translocator|solute carrier family 25 (mitochondrial adenine nucleotide translocator) member 4|solute carrier family 25 member 4 protein-coding 1607018 SLC25A40 solute carrier family 25, member 40 SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,12690205,12477932,9373149,8125298,17207965,20877624 55972 NM_018843,AC003083,CH236949,CH471091,AF125531,AK223020,AK290848,BC027322,BU933121,BX362003,CR609204,CR610506,AI037919 NP_061331,AAS07443,EAL24171,EAW76933,EAW76934,EAW76935,AAF17225,BAD96740,BAF83537,AAH27322,Q8TBP6,ADQ31676 Hs.208414 MCFP mitochondrial carrier family protein|solute carrier family 25 member 40 protein-coding 1604180 SLC25A41 solute carrier family 25, member 41 SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14702039,12477932 284427 NM_173637,AC011539,CH471139,AK097761,BC031671 NP_775908,EAW69092,EAW69093,EAW69094,BAC05163,AAH31671,Q8N5S1 Hs.375135 FLJ40442|MGC34725 solute carrier family 25 member 41 protein-coding 1604178 SLC25A42 solute carrier family 25, member 42 SLC25A42 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,12477932,19429682,20379614,20877624 284439 NM_178526,AC002126,AC003038,AC004143,CH471106,AF521885,BC041973,BC045598,CR619329,FN356975 NP_848621,AAB86983,EAW84777,EAW84778,EAW84779,AAM81327,AAH45598,Q86VD7,Q8NHH2,CAX94853 Hs.303669 MGC26694 solute carrier family 25 member 42 protein-coding 1605262 SLC25A43 solute carrier family 25, member 43 SLC25A43 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14702039,12477932,17207965 203427 BM907537,NG_016298,NM_145305,AC004000,AC004973,CH471161,AK091304,AK094254,AK292035,AK303932,AL590525,BC019584,BC071871 NP_660348,AAC62432,EAW89873,EAW89874,EAW89875,BAG52331,BAC04318,BAF84724,BAG64860,CAC36518,AAH19584,AAH71871,Q8WUT9,Q9BR35,ADQ32319 Hs.496658 solute carrier family 25 member 43 protein-coding 1605709 SLC25A44 solute carrier family 25, member 44 SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 20877624,16949250,16710414,16303743,15489334,12477932,9455484 9673 NM_014655,AL135927,CH471121,CQ782989,CQ783742,AB007915,AK074912,AK075002,AK294524,AK299747,AK307968,AK309678,AK309690,BC008843,BC039854,BC062796,DC370927 NP_055470,CAI15534,EAW52991,CAF86209,CAF86839,BAA32291,BAC11287,BAC11347,BAG57735,BAG61638,AAH08843,AAH39854,Q96H78 Hs.532375 FLJ90431|KIAA0446|RP11-54H19.3 solute carrier family 25 member 44 protein-coding 1604185 SLC25A45 solute carrier family 25, member 45 SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,16344560,14702039,12477932,17207965 283130 NM_001077241,NM_182556,AP000944,CH471076,AK090434,AK091190,AY597807,BC036869,BC041100,BX648573,CR591170,DA872876 NP_001070709,NP_872362,EAW74380,EAW74381,EAW74382,EAW74383,BAC03415,BAG52302,AAT09000,AAH36869,Q8N413,Q8NF46,ADQ33016 Hs.661604 solute carrier family 25 member 45 protein-coding 1606754 SLC25A46 solute carrier family 25, member 46 SLC25A46 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 20877624,17207965,16949250,14702039,12477932,1651563,1651562,19584346 91137 AK300116,AK300123,AK302326,BC017169,M74089,NM_138773,AC008650,CH471086,CQ834278,AK091427,AK290217 ADQ32748,BAH13214,BAG61915,BAG63660,AAH17169,AAA03587,Q96AG3,NP_620128,EAW49040,EAW49041,CAH05354,BAG52358,BAF82906 Hs.75639 solute carrier family 25 member 46 protein-coding 732042 SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 ADP/ATP translocase, the most abundant mitochondrial protein, is an integral component of the inner mitochondrial membrane. It facilitates exchange of ADP and ATP between the cytosol and the mitochondria, thereby linking the subcellular compartment of ATP production to those of ATP utilization. SLC25A5 is 1 of at least 3 transcriptionally active ADP/ATP translocase genes in humans (Chen et al., 1990 [PubMed 2157297]). Battini et al. (1987) [PubMed 3031073] cloned an ADP/ATP translocase gene from an Okayama-Berg library derived from SV40-transformed human fibroblasts. Ku et al. (1990) [PubMed 2168878] cloned and sequenced the ANT2 gene. Chen et al. (1990) [PubMed 2157297] isolated 7 ADP/ATP translocase pseudogenes from recombinant human genomic libraries. Each pseudogene sequence had more than 85% identity with the sequence of the translocase cDNA derived from fibroblast mRNA, but each had mutations that precluded synthesis of a functional protein.[supplied by OMIM] 1580863 17207965,2168878,10620603,18063578,18267033,18215124,16120388,15772651,15489334,15486956,14598172,12777383,12477932,12450408,11602586,11287411,9698557,9315697,8918809,7713517,3031073,2829183,2157297,17715127,20875141 292 NM_001152,AC004000,CH471161,L78810,M57424,AK315292,BC056160,BC068199,BQ223988,CR592623,CR592895,CR595785,CR595951,CR597221,CR600578,CR601071,CR602133,CR607413,CR607905,CR609199,CR609751,CR609949,CR613248,CR613831,CR613844,CR615679,CR616343,CR617141,CR618379,CR622239,CR622988,CR625934,DB555059,DR759917,J02683,J03591,NG_013262 NP_001143,AAB96347,EAW89868,EAW89869,EAW89870,AAB39266,AAA51737,BAG37698,AAH56160,AAH68199,AAA35579,AAA36749,P05141,Q6NVC0,ADQ32589 Hs.632282 2F1|AAC2|ANT2|T2|T3 ADP,ATP carrier protein 2|ADP,ATP carrier protein, fibroblast isoform|ADP/ATP carrier protein|ADP/ATP translocase 2|ANT 2|adenine nucleotide translocator 2 (fibroblast)|solute carrier family 25 member 5 protein-coding 1345736 SLC25A5P1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1 2157297 266623 NG_009276,Z99716 ANTP3|bK250D10.4 pseudo 2304153 SLC25A5P2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 2 19421330,2157297 344371 NG_009264,AC069303 pseudo 1344632 SLC25A5P3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 3 19425506,9847074,2157297 222005 NG_009279,AC073269,CH236957 ANTP1 pseudo 2304157 SLC25A5P4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 4 2157297 100131027 NG_009271,AL353652,AL353657,AL390965,AL590100 pseudo 1350253 SLC25A5P5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 5 2157297 442525 NG_009277,AC018641 ANTP5|TCAG_29001 pseudo 1352141 SLC25A5P6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 6 2157297 644042 NG_007588,AC109517 ANTP6 pseudo 1347659 SLC25A5P7 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7 2157297 442255 NG_009280,AL603865 ANTP7 pseudo 2304152 SLC25A5P8 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8 2157297,16107323 392301 NG_009270,AL353573 pseudo 2304160 SLC25A5P9 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 9 2157297 100133074 NG_009302,AC025170,AC108120 pseudo 1349745 SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 1580863 16712791,14726512,17220478,19111545,17855512,16930576,16556444,16201016,16189514,16169070,16120388,15489334,15063741,15033708,14746803,12477932,12450408,12112115,11872176,11756613,10926541,9110174,8619474,8490661,8486369,2829183,2823266,2541251,10620603,15163724,19669810 293 CR614755,NM_001636,AL683870,CH471074,AB209822,AK312336,AY007135,BC007295,BC007850,BC008737,BC008935,BC013256,BC014775,BC031912,BC035469,CR457400,CR593822,CR594807,CR595090,CR596158,CR598499,CR600326,CR601191,CR602406,CR605622,CR605865,CR606747,CR607716,CR608211,CR608258,CR608602,CR608604,CR611005,CR612250,CR615701,CR615726,CR616158,CR616847,CR616880,CR616995,CR618595,CR619035,CR620782,CR622476,CR623906,CR624048,CR624094,CR626642,J03592,CB150341,NG_013263 AAH07295,NP_001627,CAI39843,CAI39844,EAW98680,BAD93059,BAG35257,AAG01998,AAH07850,AAH08737,AAH08935,AAH14775,AAH31912,CAG33681,AAA36750,P12236,Q59EI9,Q6I9V5,ABM82404,ABM85593 Hs.350927 AAC3|ANT3|ANT3Y|MGC17525 ADP,ATP carrier protein 3|ADP,ATP carrier protein, isoform T2|ADP,ATP carrier protein, liver|ADP/ATP translocase 3|ADP/ATP translocator of liver|ANT 2|ANT 3|adenine nucleotide translocator 3|solute carrier family 25 member 6 protein-coding 1343024 SLC25A6P1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 128790 NG_003107,AL035562 SLC25A5L|dJ1065O2.2 pseudo 736905 SLC26A1 solute carrier family 26 (sulfate transporter), member 1 This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq] 1580863 11087667,17881426,17119850,12713736,12477932,11581495 10861 BF589989,NM_134425,NM_213613,NM_022042,AC019103,CH471131,AF297659,AK292747,AY124771,BC015517 Q3SX88,Q96BK0,Q9H2B4,AAI56323,AAI57109,AAH15517,NP_602297,NP_998778,NP_071325,EAW82628,EAW82629,AAG22075,BAF85436,AAM94171 Hs.658244 EDM4|SAT-1|SAT1 solute carrier family 26 member 1|sulfate anion tranporter AT1|sulfate anion transporter 1|sulfate transporter|sulfate/anion transporter SAT-1 protein protein-coding 1345527 SLC26A10 solute carrier family 26, member 10 1580863 12477932 65012 NM_133489,AF331523,AC025165,AK122981,AK314085,BC068027,AL050358 NP_597996,AAM92901,BAC85515,Q8NG04,Q96M35 Hs.727726 OTTHUMP00000205604|solute carrier family 26 member 10 protein-coding 1314648 SLC26A11 solute carrier family 26, member 11 Like most members of the SLC26A family, SLC26A11 is a sodium-independent sulfate transporter (Vincourt et al., 2003 [PubMed 12626430]).[supplied by OMIM] 14702039,16344560,17071331,17693766,12626430,16303743,12477932 284129 AI963799,AK027293,CQ834674,DA290933,NM_001166347,NM_001166348,NM_001166349,AC123764,CH471099,CQ784015,AF331524,AF345195,AJ544073,AK075248,AK315132,AL833468,BC015160,BC035900,BC047451,NM_173626 CAH05552,NP_001159819,NP_001159820,NP_001159821,NP_775897,EAW89592,CAF86970,AAM92902,AAO26673,CAD66450,BAC11496,BAG37584,AAH15160,AAH35900,AAH47451,Q86WA9,Q96BU7 Hs.4866 MGC46523 sodium-independent sulfate anion transporter protein-coding 732217 SLC26A2 solute carrier family 26 (sulfate transporter), member 2 The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq] 1580863,1600010 20634891,7923357,8528239,19371798,18708426,18056413,17393463,17081983,16719839,15523498,15489334,14692227,12966518,12477932,12193993,11834742,11581495,11558903,11457925,11087667,10466420,9822202,9575183,8571951,1783404,20219950,20460514 1600010 1836 NM_000112,NG_007147,AC008427,AF190156,AF190160,AK025078,AK290358,AK312596,AW089339,BC059390,BI912879,BQ437711,BX640696,U14528 NP_000103,AAQ13700,AAQ13704,BAF83047,BAG35488,AAH59390,CAE45819,AAA70081,P50443,Q7Z4B6,Q7Z4C0 Hs.302738 D5S1708|DTD|DTDST|EDM4|MST153|MSTP157 diastrophic dysplasia protein|diastrophic dysplasia sulfate transporter|solute carrier family 26 member 2|sulfate anion transporter 1|sulfate transporter protein-coding 1346275 SLC26A3 solute carrier family 26, member 3 The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq] 1600011,1580863 7683425,8896562,9554749,19321737,19056765,18216024,17761837,16715296,16606687,16421216,16412765,15766278,15489334,15480750,15342556,12651923,12477932,12442266,12372813,12369822,11834742,11581495,11524734,11087667,9718329,9717812,9473459,8140616,8020951,19122664,19447883,19915573,19940027,20044511,20634435 1600011 1811 NM_000111,NG_008046,AC002467,AC005046,CH236947,CH471070,AK300651,BC025671,BP262081,BX640837,L02785 NP_000102,AAB88772,EAW83418,EAW83419,EAW83420,BAG62339,AAH25671,CAE45910,AAA58443,P40879,Q6MZW7,Q75N04,ABM82476,ABW03417 Hs.1650 CLD|DRA chloride anion exchanger|down-regulated in adenoma protein protein-coding 736428 SLC26A4 solute carrier family 26, member 4 Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq] 1599215,1599216,1599217,1580863 20857898,18710471,18813951,19287372,19289392,19578036,19608655,19648736,19673989,19718752,19730683,19744334,19786220,19787632,19954013,19998422,20056178,20235449,19266817,19204907,19199245,19196800,19050049,19040761,19027966,19017801,18988928,18692402,18641518,18641360,18585793,18427006,18424749,18368581,18335745,18322141,18316665,18310264,18285825,18283249,18274916,18250610,18167283,18075246,18067822,17949297,17851929,10192399,9398842,16928804,19509082,19429184,19426954,17718863,17697873,17690912,17503324,17443271,17309986,16684826,16570074,16283880,16260629,16260428,15905611,15784681,15689455,15679828,15531480,15355436,15279074,15155570,14715652,14679580,14508505,12974744,12853948,12788906,12727986,12727855,12676893,12112665,11932316,11919333,11834742,11748854,11716048,11581495,11375792,11317356,11274445,11087667,10878664,10843192,10718825,10700480,10602116,10190331,9618167,9618166,9500541,9070918,8706311,17766716,8630498,8630497,8541853,20553101,20597900,20621367,20668687,20739942,20483489,20842945,20931531,21045265,20601923 1599215,1599217 5172 NM_000441,NG_008489,AC002467,AC078937,CH236947,CH471070,AF030880,AK294388,AK298543,AK300604 NP_000432,AAB88773,AAS02011,EAW83414,AAC51873,BAH11752,BAH12811,BAH13312,O43511,Q75MC7,AAI48376,AAI53003 Hs.571246 DFNB4|EVA|PDS|TDH2B pendrin|sodium-independent chloride/iodide transporter protein-coding 1603482 SLC26A5 solute carrier family 26, member 5 (prestin) This gene is a member of the SLC26A/SulP transporter family. It encodes a protein that is specifically expressed in outer hair cells (OHCs) of the cochlea and is essential in auditory processing. Intracellular anions are thought to act as extrinsic voltage sensors, which bind to this protein and trigger the conformational changes required for rapid length changes in OHCs. Mutations in this gene have been associated with non-syndromic hearing loss. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 20668687,14747354,12853948,12477932,16344560,19515900,19737539,19926791,12719379,19492055,19027966,18988928,18567583,18073211,17933870,17786286,17151276,16873410,16086836,15660259,15140192,12239568,11867734,11836512,11581495,11423665,11087667,10821263,9847074,20471983 375611 DA197655,NG_023055,NM_001167962,BC100833,BC100834,BC100835,NM_198999,NM_206884,NM_206885,AC004668,AC005064,AC093701,CH236947,CH471070,AF523354,AK126898,AY256823,AY256824,AY256825,AY289133,AY289134,BC100832,NM_206883 NP_001161434,AAI00833,AAI00834,AAI00835,AAI00836,P58743,Q496J0,Q496J1,Q496J2,Q496J3,Q7Z7F3,Q7Z7F4,NP_996766,NP_945350,NP_996767,NP_996768,EAW83334,EAW83335,AAP31417,AAP31532,AAP31533,AAP31534,AAP43685,AAP43686 Hs.585146 DFNB61|MGC118886|MGC118887|MGC118888|MGC118889|PRES OTTHUMP00000195089|OTTHUMP00000195090|OTTHUMP00000195091|OTTHUMP00000195092|OTTHUMP00000211774|OTTHUMP00000211775|OTTHUMP00000211776|prestin|prestin (motor protein) protein-coding 1320955 SLC26A6 solute carrier family 26, member 6 This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Several alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 19367581,19029225,20501439,14702039,12477932,12217875,11581495,11247665,11087667,10610771,18951670,18655181,18174209,17881426,17120764,17081983,16606687,16344560,15956810,15548529,15489334,14531806,19910524 65010 AF161369,AF279265,AF288410,AF416721,AK056237,AK297695,AL050170,BC017697,DA702248,NM_022911,NM_134263,NM_001040454,AC121252,AF195347,CH471055,AB033288,AB102713,AB208936,NM_134426 BAD92173,AAF28929,AAF81911,AAK19153,AAN07094,BAB71126,BAG60053,CAB43306,AAH17697,Q548A7,Q59H23,Q5Y190,Q86YZ4,Q96MZ1,Q9BXS9,Q9NQU1,Q9P0D0,Q9Y3Y1,ABM82647,ABW03410,ACE87477,NP_602298,NP_075062,NP_599025,NP_001035544,AAF20748,EAW64900,EAW64901,EAW64902,EAW64903,EAW64904,EAW64905,EAW64906,EAW64907,EAW64908,EAW64909,EAW64910,EAW64911,EAW64912,EAW64913,BAB69041,BAC56861 Hs.631925,Hs.663208 DKFZp586E1422 anion transporter 1|pendrin L1|pendrin-L1|pendrin-like protein 1|solute carrier family 26 member 6|sulfate anion transporter protein-coding 1321983 SLC26A7 solute carrier family 26, member 7 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Splice variants that use both alternate transcription initiation and polyadenylation sites have been described for this gene. [provided by RefSeq] 1183472,12736153,16524946,15956810,15284286,14702039,12965893,12477932,11834742,11829495,11581495 115111 BC113866,NM_052832,NM_134266,AC087847,AC104967,CH471060,AF331521,AJ413228,AJ413229,AJ413230,AK122933,AW235609,BC060784,BC068472,BC094730,BC114474 NP_439897,NP_599028,EAW91679,EAW91680,AAK95665,CAC88370,CAC88371,CAC88372,AAH94730,AAI13867,AAI14475,Q8TE54 Hs.354013 MGC126268|SUT2 anion exchange transporter|sulfate anion transporter protein-coding 1347727 SLC26A8 solute carrier family 26, member 8 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. This gene is expressed primarily in spermatocytes. Two transcript variants encoding different isoforms have been found. [provided by RefSeq] 1580863 1183472,11278976,19221096,19023099,17975119,15579655,14702039,12477932,11834742,11829495,11581495,19578796,20379614,19913121,20628086 116369 NM_052961,NM_138718,AL133507,CH471081,Z95152,AF314959,AF331522,AI015633,AK055314,AK057276,AK097410,AK122928,AK125189,BC025408,BG702985,NM_001193476 NP_443193,NP_619732,CAI40882,CAI40884,EAX03862,EAX03863,EAX03864,EAX03865,EAX03866,CAI19692,AAL26868,AAK95666,BAB71408,AAH25408,Q96RN1,NP_001180405 Hs.435836 FLJ32714|TAT1 anion exchange transporter|anion transporter/exchanger-8|testis anion transporter 1 protein-coding 1321344 SLC26A9 solute carrier family 26, member 9 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms. 14702039,12477932,11834742,11581495,18769029,17673510,17120765,16344560,19289574,19643730,20331378,20658517,21107309 115019 NM_052934,NM_134325,AL713965,CH471067,AF314958,AF331525,AK091876,AK127491,BC037978,BC136538,BC144233,BC151208,DA333352 NP_443166,NP_599152,CAI22383,CAI22384,EAW91587,EAW91588,AAL26867,AAK95667,BAC03763,BAG54513,AAI36539,AAI51209,Q7LBE3,Q8NAY2 Hs.164073 OTTHUMP00000034326|anion transporter/exchanger protein 9|anion transporter/exchanger-9|solute carrier family 26 member 9 protein-coding 1604940 SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 1642793,1642790,1642794,1642800 19913121,20628086,19361580,18660489,15978856,15897321,15489334,12818409,12477932,12235169,10873384,9671728,7954810,20965718,20356843,19523918,20416077,20360315 1642793,1642790,1642794,1642800 376497 NM_198580,AC010319,AC010618,CH471106,AK131101,AK294238,AK296355,AK299852,AK315935,BC013149,BC059399 NP_940982,EAW84609,EAW84610,EAW84611,BAC85151,BAH11711,BAH12327,BAH13148,BAH14306,AAH13149,AAH59399,Q6PCB7,Q6ZNJ4,Q96DY3 Hs.363138 ACSVL5|FATP|FATP1|FLJ00336|MGC71751 FATP-1|fatty acid transport protein 1|long-chain fatty acid transport protein 1|solute carrier family 27 member 1 protein-coding 1346073 SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10198260,14702039,12477932,11980911,10479480,10471116,9730624,9671728,9373149,8939997,8889548,8125298,17998437,20965718,16756494 11001 NM_003645,NM_001159629,AC009753,CH471082,AF096290,AK123905,AK222859,AK223145,AK290262,BC057770,BM980042,CR602275,D88308 NP_003636,NP_001153101,EAW77384,EAW77385,EAW77386,AAC64973,BAG53981,BAD96579,BAD96865,BAF82951,AAH57770,BAA23644,O14975,Q53GS2,Q6PF09 Hs.720807 ACSVL1|FACVL1|FATP2|HsT17226|VLACS|VLCS|hFACVL1 FATP-2|THCA-CoA ligase|fatty acid transport protein 2|fatty-acid-coenzyme A ligase, very long-chain 1|long-chain-fatty-acid--CoA ligase|solute carrier family 27 member 2|very long-chain acyl-CoA synthetase|very long-chain fatty-acid-coenzyme A ligase 1|very long-chain-fatty-acid-CoA ligase|very-long-chain acyl-CoA synthetase protein-coding 1321607 SLC27A3 solute carrier family 27 (fatty acid transporter), member 3 16710414,15489334,15469937,14702039,12975309,12477932,9671728,20965718,19920185 11000 BC003041,BC003654,BC009916,BC029792,CR606981,AL513523,CH471121,AJ577572,AK027499,AK074134,AK075377,AK123997,AK125102,AY358409,NM_024330 AAH03041,AAH03654,AAH09916,AAH29792,Q5K4L6,Q5K4L7,Q5VUR4,ABM84355,ABM86877,NP_077306,CAH71420,CAH71421,CAH71422,CAH71423,EAW53274,EAW53275,EAW53276,EAW53277,EAW53278,CAE12158,CAE12159,BAB55156,BAB84960,BAC11578,BAC86050,AAQ88775 Hs.438723 ACSVL3|FATP3|MGC4365|VLCS-3 FATP-3|OTTHUMP00000035252|OTTHUMP00000038688|fatty acid transport protein 3|long-chain fatty acid transport protein 3|solute carrier family 27 member 3|very long-chain acyl-CoA synthetase homolog 3 protein-coding 1316551 SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 1625640,1625638 14985385,19631310,20416077,20424473,8358434,9115920,9878842,17353931,17901542,15489334,15168018,15164053,14715877,14702039,12477932,10518211,9671728,20562859,20815031,20965718 1625640,1625638 10999 AA350218,AI478495,H16504,NG_017057,NM_005094,AL359091,CH471090,AF055899,AK000722,AK027504,AK074831,AK290222,AK314681,BC004268,BC009959,BC065003 NP_005085,CAI13488,CAI13490,EAW87779,EAW87780,AAD11623,BAG51333,BAG52010,BAF82911,AAH04268,AAH09959,AAH65003,Q6P1M0,Q96G53,Q9BTA1 Hs.656699 ACSVL4|FATP4|IPS long-chain fatty acid transport protein 4 protein-coding 1349953 SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq] 1580863 11980911,10479480,17266179,16552721,14702039,10749848,10471116,9671728,9642112,20945272 10998 BX103174,NM_012254,AC012313,CH471135,AB208931,AF064255,AK026640,AK123036,AK298446 NP_036386,EAW72601,BAD92168,AAD29444,BAG53858,BAG60663,Q59H28,Q9Y2P5,AAI46388,AAI48808 Hs.292177 ACSB|ACSVL6|FACVL3|FATP5|FLJ22987|VLACSR|VLCS-H2|VLCSH2 BA-CoA ligase|BACS|BAL|FATP-5|VLACS-related|bile acid-CoA ligase|bile acyl-CoA synthetase|cholate--CoA ligase|fatty acid transport protein 5|fatty-acid-Coenzyme A ligase, very long-chain 3|solute carrier family 27 member 5|very long-chain acyl-CoA synthetase homolog 2|very long-chain acyl-CoA synthetase-related protein protein-coding 1323714 SLC27A6 solute carrier family 27 (fatty acid transporter), member 6 This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. 1642800 10471116,16169070,15489334,12556534,12477932,10749848,10479480,9671728,20965718 1642800 28965 NM_014031,NM_001017372,AC004636,AC006959,CH471062,AA614135,AF064254,AK313456,AL833117,BC041945,BX537383,CR457129 NP_054750,NP_001017372,EAW62387,AAD29443,BAG36243,AAH41945,CAD97625,CAG33410,Q9Y2P4 Hs.49765 ACSVL2|DKFZp779M0564|FACVL2|FATP6|VLCS-H1 FATP-6|OTTHUMP00000223225|VLCSH1|fatty acid transport protein 6|fatty-acid-Coenzyme A ligase, very long-chain 2|hVLCS-H1|long-chain fatty acid transport protein 6|solute carrier family 27 member 6|very long-chain acyl-CoA synthetase homolog 1 protein-coding 733249 SLC28A1 solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 1580863 20854794,19647871,19912163,20028759,20392501,9124315,19228884,19139132,19107936,19074885,18635603,18604194,18600541,18538445,18207572,17926640,17453413,17279631,17187757,15456697,15386342,14978229,14668133,14581375,12477932,12411296,12388627,12097333,11396613,11353816,10455109,10087507,20665488,20734919 9154 NM_004213,NM_201651,AC087468,AC103741,AF187978,CH471101,AF309632,AK291997,AK296074,AK296075,AK296119,AK298369,AK309578,BC029788,BC039898,BC126204,BC126206,BC143908,U62967,U62968 NP_004204,NP_964014,AAF15353,EAX01962,EAX01963,EAX01964,AAL09447,BAF84686,BAH12251,BAH12260,BAH12769,AAH29788,AAH39898,AAI26205,AAI26207,AAB53838,AAB53839,O00337,Q96PL7,BAH12252,ADR83106 Hs.459187 CNT1|HCNT1 CNT 1|Na(+)/nucleoside cotransporter 1|OTTHUMP00000192893|concentrative nucleoside transporter 1|sodium-coupled nucleoside transporter 1|sodium/nucleoside cotransporter 1|solute carrier family 28 member 1 protein-coding 732572 SLC28A2 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 1580863 9435697,19098160,19074885,18635603,17926640,17700367,17696452,17453413,17187757,16840788,15861032,15489334,15486050,15044622,12893280,12477932,12411296,20028759,20379614,20392501,20506327,11602688,11162617,10455109,10087507,9373149,8125298,12110519 9153 NM_004212,AC051619,CH471082,AF036109,AK025121,AK222709,AK291974,BC093737,BC112047,U84392 NP_004203,EAW77303,EAW77304,AAB88539,BAD96429,BAF84663,AAH93737,AAI12048,AAC51930,O43868,Q2M2A7,Q53H72 Hs.367833 CNT2|FLJ21468|HCNT2|HsT17153|MGC138252|SPNT1 CNT 2|Na(+)/nucleoside cotransporter 2|SPNT|concentrative nucleoside transporter 2|sodium-coupled nucleoside transporter 2|sodium/nucleoside cotransporter 2|sodium/purine nucleoside co-transporter|solute carrier family 28 member 2|solute carrier family 28, member 2 protein-coding 731872 SLC28A3 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM] 1580863 19318496,19297449,19074885,18827020,18621735,18199742,17993510,17926640,17696452,17453413,17412768,17409283,16446384,16271041,15870078,15861042,15738947,14504928,12477932,11032837,19380585,19380587,20028759,20172853,20379614,20339536,14702039,16344560,20643903,20495821 64078 NM_022127,AL353787,AL356134,CH471089,AF305210,AK292849,AK304406,AK310861,AK314039,BC093821,BC093823,AA643687,AK022042,DB218604,DB237216,NM_001199633,NR_037638 NP_071410,CAI16332,CAH73162,EAW62686,AAG22551,BAF85538,BAG65240,BAG36748,AAH93821,AAH93823,Q9HAS3,NP_001186562 Hs.591877,Hs.535966,Hs.600776 CNT3 CNT 3|concentrative Na(+)-nucleoside cotransporter 3|concentrative Na+-nucleoside cotransporter|hCNT3|solute carrier family 28 member 3 protein-coding 737565 SLC29A1 solute carrier family 29 (nucleoside transporters), member 1 This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq] 1580863,2316942,2316941 19913121,20608756,20628086,20665488,20734919,20812847,8986748,14667819,19428333,19349719,19318496,19297449,19222701,19193655,19164463,19116148,18703227,18635603,18600541,18462193,18187485,18064606,17926640,17921321,17658213,17409283,17162590,16858130,16818276,16818266,16688763,16609362,16595656,16344560,16333246,15933265,15649894,15632314,15557207,15529184,15489334,14759222,14702039,14607828,12820662,12527552,12477932,20814156,12389626,12384580,12097333,12008078,12006583,11814344,11584005,10755314,9396714,9344680,8889548,20839414,19801629,19853583,19874574,20028759,20032083,20113503,20185188,20392501,20453000,20720035 2316942,2316941 2030 NM_004955,NM_001078175,NM_001078176,NM_001078177,AF190884,AF495730,AL139392,CH471081,AF079117,AK090491,AK090615,AK293558,AK304285,BC001382,BC008954,BC095398,BM661584,CB996332,CR593431,CR593933,CR603305,CR619640,CR621028,CR623545,CR625059,DA559201,DA680982,U81375,NM_001078174,AB490709,AB490708 AAC51103,Q99808,ABM83059,ABM86253,NP_001071642,NP_004946,NP_001071643,NP_001071644,NP_001071645,AAF02777,AAM11785,CAI20093,EAX04254,EAX04255,EAX04256,AAC62495,BAG52169,BAG52197,BAH11534,BAH14150,AAH01382,AAH08954,BAI39492,BAI39493 Hs.25450 ENT1|MGC1465|MGC3778 OTTHUMP00000016509|OTTHUMP00000016512|equilibrative NBMPR-sensitive nucleoside transporter|equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter|equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter|equilibrative nucleoside transporter 1|nucleoside transporter, es-type|solute carrier family 29 member 1|solute carrier family 29, member 1 protein-coding 733577 SLC29A2 solute carrier family 29 (nucleoside transporters), member 2 The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM] 1580863 15386342,14702039,14612157,12838422,12820662,12590919,12527552,12477932,12411296,12006583,9478986,9192854,9396714,7639753,19297449,19105964,18945750,18703227,18635603,17926640,17921321,16924660,16214850,15649894,15644498,15489334,20392501 3177 NM_001532,AP001107,CH471076,AF029358,AF034102,AF401235,AK057041,BC011387,BC093634,BC143335,CR621298,X86681 NP_001523,EAW74519,EAW74520,EAW74521,EAW74522,AAC39526,AAB97834,AAK92533,BAG51849,AAH11387,AAH93634,CAA60380,Q14542,Q96FB2,Q96R00 Hs.569017 DER12|ENT2|HNP36 36 kDa nucleolar protein HNP36|delayed-early response protein 12|equilibrative NBMPR-insensitive nucleoside transporter|equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter|equilibrative nucleoside transporter 2|hydrophobic nucleolar protein, 36 kDa|hydrophobic nucleolar protein, 36kD|nucleoside transporter, ei-type|solute carrier family 29 member 2|solute carrier family 29, member 2 protein-coding 1351725 SLC29A3 solute carrier family 29 (nucleoside transporters), member 3 Nucleoside transporters, such as SLC29A3, mediate uptake of precursors for nucleotide synthesis by salvage pathways. They are also required for uptake of hydrophilic anticancer and antiviral nucleoside drugs (Baldwin et al., 2005 [PubMed 15701636]).[supplied by OMIM] 1302477,1580863 20677642,19336477,19164483,18940313,15701636,15489334,14702039,12975309,12477932,12384580,11396612,20199539,20595384,16385451,19581757,19889517,20140240,20392501 1302477 55315 BC000223,BC041575,BC050589,BC063019,BC120996,BC120997,CR602243,CR603307,DC319920,AY358686,NM_018344,AL359183,AL359384,BK000392,CH471083,AF326987,AK002022,AK304503,AK314497,AK316152,AY288928,CQ834384,NG_017066,NM_001174098,NR_033413,NR_033414 AAQ89049,AAH00223,AAH41575,AAI20997,AAI20998,Q9BZD2,NP_060814,CAI13424,CAI16088,DAA00364,EAW54423,EAW54424,EAW54425,AAK00958,BAA92041,BAG65311,BAG37097,BAH14523,AAP41133,CAH05407,NP_001167569 Hs.438419 ENT3|FLJ11160 equilibrative nucleoside transporter 3 protein-coding 1321510 SLC29A4 solute carrier family 29 (nucleoside transporters), member 4 This gene is a member of the SLC29 family and encodes a plasma membrane protein with 11 transmembrane helices. This protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq] 1580863 19357181,18523561,17393420,17121826,17018840,16873718,16099839,15448143,14702039,12838422,12477932,8889548,20392501 222962 NM_001040661,NM_153247,BK000627,CH471144,AK075422,AK092242,AK296278,AL515106,AY485959,BC025325,BC047592,BM069878,BU740709,CR600939,CR620848,CR624950,H07897 NP_001035751,NP_694979,DAA00308,EAW87329,EAW87330,BAC11612,BAC03836,BAG58987,AAS65965,AAH25325,AAH47592,Q7RTT9 Hs.4302 ENT4|FLJ34923|PMAT equilibrative nucleoside transporter 4|hENT4|plasma membrane monoamine transporter|solute carrier family 29 member 4 protein-coding 737272 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 This gene encodes a major glucose transporter in the mammalian blood-brain barrier. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq] 1626159,1625539,2313601,2313617,730192,2313620,2312290,2312305,2312289,2303167,2312306,1624245,1580863 16344560,10227690,9462754,19587357,19554504,19533890,19449892,19420105,19386788,19366592,19347605,19303158,19289587,19286567,19234439,19166280,19152396,19142800,19085834,19020742,19020718,19016655,18990414,18987250,18981181,18973239,18953257,18948400,18821326,18764953,18726700,18695903,18676680,18614966,18613291,18577546,18565734,18451999,18410529,18401196,18387950,18351386,18343752,18324916,18311082,18290322,18271924,18245775,18227718,18212354,18191496,18177733,18172662,18097583,17727838,17635959,17611657,17591274,17504522,17452775,17451637,17442736,17404017,17387384,17294670,17192790,17167225,17081065,17080242,17071132,17064664,17020877,16842248,16800634,16681688,16681687,16519917,16443776,16407180,10198040,10086067,9153243,9110174,8839927,8662691,8619474,7829101,7798206,3839598,3170580,3028891,2834252,2394733,16169070,14679154,20703861,20730618,20965718,20526721,20569445,19709351,20375117,20527231,15166316,20428049,20846124,20937822,21033220,20947823,16310037,16273245,16220828,16195374,16172126,16147855,16142350,16136514,16126902,16125330,15967114,15955807,15847702,15823019,15778389,15767416,15745834,15709778,15682272,15502921,15489334,15454279,15342556,15331928,15147968,15086844,15073187,14991538,14757434,14702039,14688257,14674124,14622599,12969152,12942120,12849991,12752470,12673735,12583599,12554125,12477932,12379106,12379105,12145475,12133004,12122099,12112827,12086959,12064911,11991658,11953883,11920478,11842083,11836704,11774318,11747430,11681785,11603379,11477169,11425315,11296192,11231353,11168944,11136715,11007796,10980529,10759149,10655495,10562431,20395120,20574033,15924676,17554865,17991316,18246802,18422279,19170196,19173807,19292042,19304421,19434538,19465749,19490621,19533082,19536037,19569052,19619276,19625176,19630075,19648108,19648882,19655166,19681047,19692168,19798636,19819644,19822956,19883765,19948975,19955252,20030103,20063428,20113375,20221955,20424473,20540786,20382060,20679470 1626159,1625539,2313601,2313617,730192,2313620,2312290,2312305,2312289,2303167,2312306,1624245 6513 NM_006516,NG_008232,AC099795,CH471059,CQ918450,M20653,AB208987,AF070544,AK122999,AK292791,AK293306,AK296736,AK312403,AW137914,AY034633,BC118590,BC121804,BG682043,BI490999,BP314853,BQ948542,CR596198,CR596811,CR599895,CR600321,CR601030,CR601790,CR606197,CR606282,CR606581,CR609110,CR618028,DA753077,K03195 NP_006507,EAX07123,EAX07124,CAI23886,AAB61084,BAD92224,AAC28635,BAG53842,BAF85480,BAG56827,BAG59323,BAG35317,AAK56795,AAI18591,AAI21805,AAA52571,P11166,Q0P512,Q59GX2 Hs.473721,Hs.721551 DYT17|DYT18|GLUT|GLUT1|GLUT1DS|MGC141895|MGC141896|PED GLUT-1|glucose transporter type 1, erythrocyte/brain|hepG2 glucose transporter|solute carrier family 2, facilitated glucose transporter member 1|solute carrier family 2,member 1 protein-coding 1315233 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 SLC2A10 is a member of the facilitative glucose transporter family, which plays a significant role in maintaining glucose homeostasis.[supplied by OMIM] 1580863 11247674,18818946,18774132,18565096,16586067,16550171,16336637,16051383,15975113,15936967,15679832,15489334,14702039,12941788,12890477,12554125,12477932,11780052,11592815,19913121,20628086,20735855,20379614 81031 NM_030777,AL031055,CH471077,AF248053,AF321240,AF479407,AK055548,AK290961,AK315269,AL137188,BC101657,BC113423,NG_016284 NP_110404,CAA19926,EAW75724,AAK31911,AAK26294,AAL87106,BAG51534,BAF83650,BAG37684,CAB69822,AAI01658,AAI13424,O95528,Q8TDC7,ADR83042 Hs.305971 ATS|GLUT10|MGC126706 GLUT-10|glucose transporter type 10|solute carrier family 2, facilitated glucose transporter member 10 protein-coding 1354509 SLC2A11 solute carrier family 2 (facilitated glucose transporter), member 11 SLC2A11 belongs to a family of plasma membrane proteins that mediate transport of sugars across the membrane by facilitative diffusion (Sasaki et al., 2001 [PubMed 11741323]).[supplied by OMIM] 1580863 17710649,16303743,16154905,15461802,12477932,12175779,11741323,11583593,14702039,19423540,20406964,20438785 66035 NM_001024938,NM_001024939,AB049214,AB067442,AB067443,AB067444,AP000350,CH471095,CS051291,AA888149,AB209301,AF443201,AF479409,AJ271290,AK075467,AK296169,AK304409,AK308589,AK308602,AK314502,BC018967,BC063525,BC094735,BC100807,BC100808,BC100809,BC100810,CR456373,CR617581,NM_030807,AK092466,AK300196,AK315937,AK316049 NP_110434,NP_001020109,NP_001020110,BAB68410,BAB83504,BAB83505,BAB83506,EAW59613,EAW59614,EAW59615,EAW59616,EAW59617,EAW59618,CAI72140,BAD92538,AAL39061,AAL87108,CAC29020,BAC11637,BAG58907,BAG65242,BAG37102,AAH18967,AAH63525,AAH94735,AAI00808,AAI00809,AAI00810,AAI00811,CAG30259,Q496K8,Q496L1,Q504W2,Q59G08,Q6P4C1,Q6PJ99,Q8TDC5,Q8WXF9,Q8WYM3,Q8WYM4,Q8WYM5,Q9BYW1,CAK54509,CAK54808,BAH13236,BAH14308,BAH14420 Hs.632772 GLUT10|GLUT11|MGC118830|MGC118833|SLC2A11-a|SLC2A11-c GLUT-10|GLUT-11|facilitative glucose transporter GLUT11|glucose transporter protein 10|glucose transporter protein 11|glucose transporter type 10|glucose transporter type 11|glucose transporter-like protein XI|solute carrier family 2, facilitated glucose transporter member 11 protein-coding 1320922 SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12 SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM] 1580863 18978678,16803853,16344560,16091581,14702039,12914765,12890477,12583599,12477932,11832379,11780753,20734064,20965718,19549745 154091 NM_145176,AL035699,AL449363,CH471051,AK056554,AK122628,AK226098,AL833602,AY046419,BC070149,BX648889,DB253903 NP_660159,CAD92514,EAW47994,BAB71214,BAG53629,AAL02327,AAH70149,Q8TD20,CAI17977 Hs.486508 GLUT12|GLUT8 GLUT-12|glucose transporter type 12|solute carrier family 2, facilitated glucose transporter member 12 protein-coding 731999 SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 634137,1580863 17081983,15489334,15203218,12477932,11500374,19473719,19607714,19915576,20379614 634137 114134 NM_052885,AC079630,AC117403,AC121335,AC121336,CH471111,AJ315644,AK000182,AK026495,BC039431,BC047507,BC117117,BC117119,CD635353,CR626416 NP_443117,EAW57811,CAC51116,AAH47507,AAI17118,AAI17120,Q86X07,Q96QE2 Hs.558595 HMIT|MGC48624 H(+)-myo-inositol symporter|h(+)-myo-inositol cotransporter|proton (H+) myo-inositol symporter|proton myo-inositol cotransporter protein-coding 1347307 SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM] 1580863 18029348,15489334,12504846,12477932,11882521 144195 NM_153449,AC006517,AC124891,CH471116,AF481878,AF481879,AK122783,AK126026,AK299037,AK302881,AK316238,AL110298,AL832448,AY357941,BC060766 NP_703150,EAW88652,EAW88653,AAL89709,AAL89710,BAG53727,BAG54279,BAH12934,BAH13830,BAH14609,CAB53739,AAQ63763,AAH60766,Q8TDB8 Hs.655169 DKFZp564K1672|GLUT14|SLC2A3P3 GLUT-14|glucose transporter 14|glucose transporter type 14|solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3|solute carrier family 2, facilitated glucose transporter member 14 protein-coding 730861 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 Glucose transporter 2 isoform is an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. It mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. [provided by RefSeq] 2312359,1626159,2312358,2312360,2311061,1624252,1624253,1580863,2324977,2324976 8027028,19554504,19303158,19269875,19223655,18349384,18239936,18220613,17636114,17204838,17192490,17141226,17065357,15983230,15009676,14614558,14551916,13480676,12477932,12017192,11988093,11978637,11810292,11592815,11344224,11247674,11044475,10987651,10697967,9686354,9354798,9266402,8923459,8626492,8482435,8063045,7593639,3399500,1862003,1852621,15889141,20800603,19913121,20628086,20066028,20081858,20142250,20201351,20419449,20424473 2312359,1626159,2312358,2312360,2311061,1624252,1624253,2324977,2324976 6514 NM_000340,NG_008108,AC061708,AC092918,CH471052,L09674,AK290846,AK292741,AK298418,AK313622,BC060041,J03810,HC890011,HC901936 NP_000331,EAW78498,EAW78499,EAW78500,BAF83535,BAF85430,BAH12783,BAG36383,AAH60041,AAA59514,P11168,Q6PAU8,CBN59495,CBN65426 Hs.167584 GLUT2 GLUT-2|glucose transporter type 2, liver|solute carrier family 2, facilitated glucose transporter member 2 1643508 BW262_H protein-coding 737055 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 1626159,1625539,1642802,1642812,2313602,2313618,730192,2313619,2313620,2313601,2313617,1580863 1695905,18029348,19554504,19261894,18802725,18764953,18401196,18299470,18172662,17920708,17611657,17559076,17442736,16303743,16136514,16125330,16049004,15489334,14757434,12583599,12554125,12477932,12397394,12112827,12064911,11991658,10086067,9477959,9253355,7502272,3170580,1417839,20428049,20599725,16169070,19536037,19659459,19681047,19782666,19786962,20308990,20424473,20468064,8457197 1626159,1625539,1642802,1642812,2313602,2313618,730192,2313619,2313620,2313601,2313617 6515 NM_006931,AC007536,AF274892,CH471116,AB209607,AK074861,AK298673,AK304509,AK312386,AY034634,BC039196,CR457413,CR621471,M20681,HC007280,HC890017,HC901942 EAW88644,NP_008862,AAF82116,EAW88645,BAD92844,BAH12843,BAH14202,BAG35303,AAK56796,AAH39196,CAG33694,AAB61083,P11169,Q59F54,ABM82044,ABM85223,ABM85225,CBH19445,CBN59498,CBN65429 Hs.419240 FLJ90380|GLUT3 GLUT-3|glucose transporter type 3, brain|solute carrier family 2, facilitated glucose transporter member 3|solute carrier family 2, member 2 protein-coding 1343832 SLC2A3P1 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 1 1695905,11882521 100128062 NG_008263,AC020894 GLUT3P1|GLUT6|SLC2A3P pseudo 1354392 SLC2A3P2 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 2 11882521 391045 NG_005841,AC025866,AL606517 pseudo 1345033 SLC2A3P3 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3 11882521 399494 AC006517 1347560 SLC2A3P4 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 399495 NG_009577,AC103817 pseudo 731478 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq] 1626159,1625539,2313624,2302393,2306268,2302395,2302397,2313621,2313622,2313625,2303167,1625188,1580863 16647043,17003346,18713752,18778861,19170196,19328476,19389739,19478182,19549745,19590752,19625176,19648108,19692168,19885647,19948975,19955252,20103707,20173759,20363751,15334390,15184360,15182197,15166000,14747278,14630949,12716734,12716391,12700047,12631717,12606502,12583599,12565902,12477932,12467732,12145475,12079888,12064911,11994746,11500317,11217863,11003568,10606624,10068455,9388492,8300557,7916714,2656669,2568955,1918382,1756912,1601840,1521731,1397719,10655495,15292352,15247266,15992544,20965718,20501875,20352120,2649253,11842083,14562105,11742412,19554504,19375584,19321702,19286271,19251038,19219452,19188436,19035854,18769028,18676680,18660489,18635880,18299470,18249389,18184930,18067156,18056982,17717074,17611657,17496362,17448565,17382906,17220298,17164432,17035674,16966355,16803853,16787385,16763099,16497805,16497797,16396496,16213228,16096283,15864539,15731326,15528266,15489334,15480742,19913121,20625434,20628086,20406953,20417083 1626159,1625539,2313624,2302393,2306268,2302395,2302397,2313621,2313622,2313625,2303167,1625188 6517 NM_001042,NG_012127,AC003688,CH471108,M91463,X58489,AK300899,AK313372,AL521328,BC034387,BC069615,BC069621,BC113592,BC126164,BQ775137,CF594356,CR603611,M20747 NP_001033,EAW90226,EAW90227,AAA52569,CAA41399,BAG62537,BAG36171,AAH34387,AAH69615,AAH69621,AAI13593,AAI26165,AAA59189,P14672,ADR83021 Hs.380691 GLUT4 GLUT-4|glucose transporter type 4, insulin-responsive|insulin-responsive glucose transporter type 4|solute carrier family 2 , member 4|solute carrier family 2, facilitated glucose transporter member 4 protein-coding 1343076 SLC2A4RG SLC2A4 regulator The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq] 1580863 10825161,18249389,16368714,15489334,14630949,14625278,12477932,11780052,11752456,8889548,21102463 56731 NM_020062,AL121845,CH471077,AB044777,AB044786,AB052777,AF249267,AK298304,AV659783,BC001402,BC017446,BC028349,BC052306,BM983611,CR592410,CR626338 NP_064446,CAC44024,EAW75210,EAW75211,EAW75212,BAE71373,BAD29732,BAD29733,AAF97516,BAG60558,AAH01402,AAH17446,AAH28349,AAH52306,Q2PHL5,Q9NR83 Hs.435126 GEF|HDBP1|Si-1-2|Si-1-2-19 GLUT4 enhancer factor|HDBP-1|Huntington's disease gene regulatory region-binding protein 1|SLC2A4 regulator|huntington disease gene regulatory region-binding protein 1 protein-coding 68456 SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 1580863 1634504,1695905,19091748,18439419,18424253,17577579,17251278,16803853,15489334,14757434,12820898,12554125,12477932,20965718,11840567,11247674,9691177,8037665,1550217,19913121,20628086,20043883,20379614 6518 AK295785,AK300091,AK300477,AK302047,AK302057,AK302137,BC001692,BC001820,BC035878,CA309754,DC379829,M55531,NM_003039,NM_001135585,AL158048,CH471130,U05344,U11843,AF451839,AF479408,AK289849,AK290398,AK294368,NR_024180 BAG58606,BAG61894,BAG62193,BAG63439,BAG63447,BAG63511,AAH01692,AAH01820,AAH35878,AAA52570,P22732,Q8IVB3,Q8TDC6,ABM83217,ABM86417,NP_003030,NP_001129057,CAI23457,CAI23458,EAW71610,AAB60641,AAL87107,BAF82538,BAF83087,BAG57630 Hs.530003 GLUT5 GLUT-5|fructose transporter|glucose transporter type 5, small intestine|glucose transporter-like protein 5|solute carrier family 2 (facilitated glucose transporter), member 5|solute carrier family 2, facilitated glucose transporter member 5|solute carrier family 2, member 5 protein-coding 1319599 SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6 Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM] 1580863 10970791,19554504,16303743,15489334,15164053,14702039,12554125,12477932,9373149,8125298,17997608,20413573,20734064 11182 DC305025,Y17803,NM_001145099,NM_017585,AL593848,CH471090,CQ782786,CQ782893,AB209108,AJ011372,AK074836,AK074927,AK096630,AK222919,AK225106,AK294974,BC013740,CA306069 CAB96996,Q59GK1,Q8NCC2,Q9UGQ3,ABM82439,ABM85630,NP_001138571,NP_060055,EAW88092,EAW88093,EAW88094,CAF86016,CAF86119,BAD92345,CAB66155,BAC11235,BAC11297,BAD96639,BAG58046,AAH13740 Hs.244378 GLUT6|GLUT9|HSA011372 GLUT-6|GLUT-9|glucose transporter type 6|glucose transporter type 9|solute carrier family 2, facilitated glucose transporter member 6 protein-coding 1344587 SLC2A7 solute carrier family 2 (facilitated glucose transporter), member 7 SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM] 16186102,15033637,11780753 155184 NM_207420,AL158048,CH471130,AY571960 NP_997303,CAI23459,EAW71607,EAW71608,AAS78590,Q6PXP3,AAI52831 Hs.531239 GLUT7 GLUT-7|glucose transporter type 7|intestinal facilitative glucose transporter 7|solute carrier family 2, facilitated glucose transporter member 7 protein-coding 730862 SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8 70600,1580863 10671487,18029348,19554504,16723738,12554125,12477932,11845330,10821868,20965718 70600 29988 HC897950,NM_014580,AL445222,CH471090,AB209112,AF289587,AJ245937,BC019043,CR625717,Y17801 CBN63384,NP_055395,CAH72916,CAH72917,CAH72918,CAH72919,CAH72920,CAH72921,CAH72922,CAH72923,CAH72924,EAW87660,EAW87661,EAW87662,EAW87663,EAW87664,BAD92349,AAL55771,CAB75702,AAH19043,CAB89809,Q59GJ7,Q5VVV3,Q5VVV4,Q5VVV5,Q5VVV9,Q5VVW5,Q8WZ05,Q9NY64,ABM83835,ABM87159 Hs.179522 GLUT8|GLUTX1 GLUT-8|OTTHUMP00000022179|glucose transporter X1|glucose transporter type 8|glucose transporter type X1|solute carrier family 2, facilitated glucose transporter member 8 protein-coding 1351405 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 20589538,20714133,19797240,18398472,18327257,18327256,18179892,18177733,18172662,17997608,17710649,15489334,14739288,14702039,12554125,12477932,11991658,11739520,10970791,10860667,19026395,18842065,18834626,18759275,18701466,18606621,18487473,20197412,19260141,19503597,19593129,19679263,19723617,19808778,19833602,19877038,19890391,19926891,20053405,20162742,20162743,20162744,20162745,20379614,20413573,15203218,20800603,20884846,20972595 56606 NM_001001290,NM_020041,NG_011540,AC005674,AC098976,AC108199,CH471069,AF210317,AF421859,AK096819,AK310895,AL572022,BC018897,BC110414,BI821650,CD629819,CD629822 NP_001001290,NP_064425,AAY41052,EAW92681,EAW92682,EAW92683,AAF85942,AAL16939,AAH18897,AAI10415,Q9NRM0,ABM82868,ABM86055 Hs.656895 GLUT9|GLUTX|UAQTL2|URATv1 GLUT-9|OTTHUMP00000115632|glucose transporter type 9|human glucose transporter-like protein-9|solute carrier family 2, facilitated glucose transporter member 9|urate voltage-driven efflux transporter 1 protein-coding 1352870 SLC2AXP1 solute carrier family 2 (facilitated glucose transporter), pseudogene 1 11882521 399496 NG_011411,AC026626,AC092835 pseudo 731339 SLC30A1 solute carrier family 30 (zinc transporter), member 1 1580863 12477932,18676680,18639746,18158319,17971500,17971132,17786585,16179263,15451416,14662799,15276077,17349999,18029348,19170196,19625176,19692168,19767393,19900532,20201890,19371353 7779 AF364518,AI467909,AI621266,AW183618,BC121015,BC121016,BE744293,BF057194,CB990012,CF529684,NM_021194,AC105275,AF048701,AF323590,CH471100,AA853540,AB451467 AAK50854,AAI21016,AAI21017,Q96KD7,Q9Y6M5,NP_067017,AAD29840,AAG53405,EAW93412,BAG70281 Hs.519469 ZNT1|ZRC1 solute carrier family 30 member 1|zinc transporter 1|znT-1 protein-coding 1604615 SLC30A10 solute carrier family 30, member 10 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A10, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 19064571,15154973,14702039,12477932 55532 NM_018713,AC093562,CH471100,AK090806,AK097467,AL359609,AY212919,BC036078,BC114619,BG564297 NP_061183,EAW93312,EAW93313,EAW93314,BAG52231,BAG53474,CAB94880,AAP44332,AAH36078,AAI14620,Q1RMY7,Q6XR72,AAI46292 Hs.284450,Hs.679909 DKFZp547M236|ZNT10|ZNT8|ZRC1|ZnT-10 solute carrier family 30 (zinc transporter), member 10|zinc transporter 10|zinc transporter 8 protein-coding 733874 SLC30A2 solute carrier family 30 (zinc transporter), member 2 1580863 17971500,17349999,17065149,14702039,12477932,8617223,19064571,19170196,19496757 7780 NM_032513,NM_001004434,AL391650,CH471059,AF370409,AK023491,AK023504,AK094027,BC006251,BF509598,CR592804 NP_115902,NP_001004434,CAI17131,CAI17132,EAX07849,EAX07850,AAQ15245,BAG52799,AAH06251,Q9BRI3 Hs.143545 FLJ36708|MGC11303|PP12488|ZNT2|ZnT-2 solute carrier family 30 member 2|zinc transporter 2 protein-coding 1346114 SLC30A3 solute carrier family 30 (zinc transporter), member 3 1580863 17349999,19521526,8962159,18639746,17971500,15154973,14662799,14657250,12477932 7781 NM_003459,AC013413,CH471053,AK127096,AK127300,AK302174,AK313600,AL043136,BC028358,CR605101,U76010 NP_003450,AAY24294,EAX00610,EAX00611,BAG63540,BAG36366,AAH28358,AAB39732,Q99726,ABM83041,ABM86236 Hs.467981 ZNT3 OTTHUMP00000201041|solute carrier family 30 member 3|zinc transporter 3|zinc transporter ZnT-3|znT-3 protein-coding 1343503 SLC30A4 solute carrier family 30 (zinc transporter), member 4 Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM] 2299948,2299950,1580863 19371353,17349999,17575980,19625176,19692168,9354792,19058789,18676680,18639746,17971500,16580781,15187159,14968438,12955079,12743795,12477932,11988082,11935329,11686514,11511923,10600821 2299948,2299950 7782 CH471082,AA485220,AF025409,AK290874,AY029482,BC026089,AC025580,NM_013309 EAW77316,EAW77317,AAB82561,BAF83563,AAK40257,AAH26089,O14863,Q96JT7,ABM83047,ABW03348,NP_037441 Hs.162989 ZNT4 solute carrier family 30 member 4|zinc transporter 4|znT-4 protein-coding 1315825 SLC30A5 solute carrier family 30 (zinc transporter), member 5 1580628 11937503,10330022,18639746,17971500,15276077,14702039,12975309,12477932,12095919,11904301,20689807,17349999,19064571,19759014 1580628 64924 BC008198,BC017441,BC130452,BC130454,BC144349,BX537394,CR592705,CR595184,NM_024055,NM_022902,AC010273,CH471137,AF212235,AF461760,AK022558,AK022818,AK292925,AL833716,AY089991,AY358505,BC000808,BC003411 AAH03411,AAH08198,AAH17441,AAI30453,AAI30455,AAI44350,CAD97636,Q8TAD4,Q9BTR6,Q9BVY8,Q9BY48,Q9H9X0,AAI48651,AAI53203,ACE87364,ACE86679,NP_076960,NP_075053,EAW51307,EAW51308,EAW51309,EAW51310,AAK14921,AAL96437,BAB14098,BAB14258,BAF85614,AAM09099,AAQ88869,AAH00808 Hs.631975 FLJ12496|FLJ12756|MGC5499|ZNT5|ZNTL1|ZTL1|ZnT-5 OTTHUMP00000223027|hZTL1|solute carrier family 30 member 5|zinc transporter 5|zinc transporter ZTL1|znT-like transporter 1 protein-coding 1319489 SLC30A6 solute carrier family 30 (zinc transporter), member 6 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A6, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 1580863 18639746,17971500,16580781,15154973,14702039,12477932,11997387,20877624,17349999,19064571,19759014,19371353 55676 NM_017964,AL121653,AL121658,CH471053,AF173387,AK055663,AK096672,AK127716,AL832755,BC032525,BC066903,EF560719,EF560726,AI401266,BG527678,DB469378,NM_001193513,NM_001193514,NM_001193515,AK304225,CR622136 NP_060434,EAX00456,EAX00457,EAX00458,EAX00459,EAX00460,AAQ13628,BAB70980,BAG53349,BAG54557,AAH32525,AAH66903,ABQ59029,ABQ59036,Q6NXT4,Q7Z4D6,Q9NWI4,NP_001180442,NP_001180443,NP_001180444,ACT64359,ACT64360,ACT64513,ACT64514,BAH14137 Hs.23248 FLJ31101|MGC45055|MST103|MSTP103|ZNT6 OTTHUMP00000201177|OTTHUMP00000201178|solute carrier family 30 member 6|zinc transporter 6|znT-6 protein-coding 1317319 SLC30A7 solute carrier family 30 (zinc transporter), member 7 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 1580863 17353931,18639746,17971500,16381901,16344560,15489336,15276077,15154973,14702039,12477932,12446736,11256614,11230166,11076863,17349999,18029348,19064571 148867 NM_001144884,NM_133496,AC104506,AL732465,BX640630,CH471097,AF233345,AF529197,AK023089,AK313638,AY094606,BC064692,BX537375,BX648884,CR936806,DA997188 NP_001138356,NP_598003,CAI13301,EAW72942,EAW72943,AAL83716,AAO17324,BAG36396,AAM21969,AAH64692,CAD97617,Q8NEW0,CAL37805 Hs.533903 DKFZp686M0368|ZNT7|ZnT-7|ZnTL2 solute carrier family 30 member 7|zinc transporter 7|zinc transporter ZnT-7|zinc transporter like 2|znt-like transporter 2 protein-coding 1317968 SLC30A8 solute carrier family 30 (zinc transporter), member 8 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A8, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 1580863 20550665,20571754,20580033,20616309,20802253,20809084,20703447,19064571,19401414,19479076,19542200,19590848,19592620,19602701,19622614,19655390,19720844,19734900,19741166,19741467,19794065,19808892,19808923,19862325,19892838,19933996,20035758,20075150,20081858,20167458,20185807,20203524,20215779,20384434,20424228,20490451,20509872,20091020,20873210,20138556,15331542,16984975,19502414,19380854,19336475,19324937,19323954,19279076,19258437,19258404,19247372,19228808,19225753,19172244,19120307,19120306,19108828,19096518,19082521,19056611,19033397,19020324,19020323,19008344,19002430,18991055,18984664,18850084,18719881,18694974,18633108,18628523,18618095,18598350,18591388,18591387,18548167,18544707,18516622,18498634,18477659,18469204,18461161,18443202,18437351,18426861,18400535,18324385,18264689,18252897,18212765,18210030,18162509,18162508,17971500,17971426,17942684,17928989,17804762,17786204,17657472,17463249,17463248,17463246,17460697,17293876,16381901,16158222,15489336,15489334,15154973,12477932,11230166,11076863,20581827,20610599,20712903,20816152,20836749,20879858,20889853,20929593,21036910 169026 AC087350,AC104391,BQ631692,NG_016991,NM_001172811,NM_001172813,NM_001172814,NM_001172815,NM_173851,AC027419,AC084114,CH471060,AK298294,AL713790,AY117411,BC015845,BC126446,BC143953,BU949895,EF560713,HI380463 NP_001166282,NP_001166284,NP_001166285,NP_001166286,NP_776250,EAW91968,BAG60552,CAD28545,AAM80562,ABQ59023,Q8IWU4,CAL37399,CAL38185,CBX55804 Hs.532270 ZNT8|ZnT-8 zinc transporter 8|zinc transporter ZnT-8 protein-coding 1315097 SLC30A9 solute carrier family 30 (zinc transporter), member 9 1580863 10409434,17971500,12477932,11906820,9373149,8125298,15988012,17349999,19064571 10463 AC106052,AC113151,CH471069,AA427879,AF006621,AK225470,AK299917,AK312838,AY319413,AY594282,BC000240,BC007732,NM_006345,BC016949,BC022981,BG323207,CR625604 NP_006336,AAY40966,EAW92996,EAW92997,EAW92998,EAW92999,AAB87763,BAG61754,BAG35692,AAP83846,AAT02479,AAH07732,AAH16949,AAH22981,Q6PML9 Hs.479634 C4orf1|GAC63|HUEL|ZNT9 GRIP1-dependent nuclear receptor coactivator|expressed in human embryonic lung|human embryonic lung protein|solute carrier family 30 member 9|zinc transporter 9|znT-9 protein-coding 735683 SLC31A1 solute carrier family 31 (copper transporters), member 1 Copper is an element essential for life, but excessive copper can be toxic or even lethal to the cell. Therefore, cells have developed sophisticated ways to maintain a critical copper balance, with the intake, export, and intracellular compartmentalization or buffering of copper strictly regulated. The 2 related genes ATP7A (MIM 300011) and ATP7B (MIM 606882), responsible for the human diseases Menkes syndrome (MIM 309400) and Wilson disease (MIM 277900), respectively, are involved in copper export. In S. cerevisiae, the copper uptake genes CTR1, CTR2, and CTR3 have been identified, and in human the CTR1 and CTR2 (MIM 603088) genes have been identified.[supplied by OMIM] 1580863 20569931,9207117,19240214,19147760,19144690,17959139,17627945,16501047,16356544,15634665,15489334,15326162,14976198,14702039,12501239,12477932,12466020,12177073,12034741,12023893,11983704,11734551,11054564,9373149,8125298,20534491,20699218,19529937,19669174,19684018,19740744,19856191,19929093 1317 NM_001859,AL449305,CH471090,AK056926,AK129613,AK222866,AK292511,AL831843,BC004315,BC013611,BC061924,CR593760,CR605076,U83460 NP_001850,CAI10965,CAI10966,EAW87357,EAW87358,EAW87359,BAD96586,BAF85200,CAD38549,AAH04315,AAH13611,AAH61924,AAB66306,O15431,Q5T1M3,Q6P708,Q9BT69,ABM82379,ABM85558 Hs.532315 COPT1|CTR1|MGC75487|hCTR1 copper transport 1 homolog|copper transporter 1|high affinity copper uptake protein 1|solute carrier family 31 member 1 protein-coding 1351746 SLC31A1P solute carrier family 31 (copper transporters), member 1 pseudogene 11054564 117151 AC007919,AF238997,NG_009573 CTR1P|CTR1psi|SLC31A1P pseudo 1317461 SLC31A2 solute carrier family 31 (copper transporters), member 2 1580863 9207117,17944601,17617060,15489334,15342556,12477932,14722252,19509135 1318 NM_001860,AL449105,CH471090,AK057903,AK131071,AK131546,AK295544,BC026252,BP341248,CN480022,CR407615,CR592959,CR593518,CR594089,CR597160,CR597706,CR600675,CR609395,CR609858,CR613559,CR620050,CR620060,CR621630,CR622921,CR623857,CR626490,U83461 NP_001851,CAO78192,EAW87355,BAG58452,AAH26252,CAG28543,AAB66307,O15432,Q53X94,ABM82295,ABM85475 Hs.24030 COPT2|CTR2|hCTR2 copper transporter 2|probable low affinity copper uptake protein 2|solute carrier family 31 member 2 protein-coding 1346344 SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq] 19843525,19874574,17471287,15489334,14702039,12806177,12477932,12115694,11780052,9921901,9349821,12750892 140679 NM_080552,AL133519,CH471077,AF064848,AK055051,AK091079,AY044836,BC036458,BC053582,BI488536 NP_542119,CAC15529,EAW76012,BAB70846,BAG52280,AAK98782,AAH36458,AAH53582,Q9H598 Hs.179080 VGAT|VIAAT GABA and glycine transporter|hVIAAT|solute carrier family 32 member 1|vesicular GABA transporter|vesicular inhibitory amino acid transporter protein-coding 732825 SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 The encoded protein is required for the formation of O-acetylated (Ac) gangliosides. It is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Studies indicate that the protein is localized to the cytoplasm. [provided by RefSeq] 1580863 20461110,9096318,19061983,15489334,12739170,12477932,20306460 9197 NG_023365,NM_004733,AC104472,CH471052,AK312268,BC014416,CR622424,D88152,NM_001190992 NP_004724,EAW78743,EAW78744,BAG35199,AAH14416,BAA20072,O00400,ABM82633,ABM85811,NP_001177921 Hs.478031 ACATN|AT-1|AT1|SPG42 OTTHUMP00000212983|acetyl-CoA transporter 1|acetyl-coa transporter|acetyl-coenzyme A transporter 1|solute carrier family 33 member 1|spastic paraplegia 42 (autosomal dominant) protein-coding 733686 SLC34A1 solute carrier family 34 (sodium phosphate), member 1 730120,1580863,2311304 8327470,8693007,16955105,16688119,16105044,15613617,15504898,15342556,14702039,14694264,14672348,14558883,12952859,12674325,12477932,12324554,11880379,11099500,9210418,8188224,9683733,20558539,20335586,20383146,8898024,9530108 730120,2311304 6569 BC050385,BC053349,BP275443,L13258,AC145098,NM_003052,AF058289,CH471195,D89927,U56684,U56692,U56694,AK096088,AK298299,BC034756,BC035294,AI650347,BI759164,NG_016223,NM_001167579 AAH50385,AAH53349,AAA36354,Q05BP0,Q06495,Q6LCI0,Q6LCI1,Q6LCI3,Q7Z725,Q86VN6,Q8N8W2,NP_003043,EAW85007,EAW85008,EAW85009,EAW85010,AAD14856,AAD14864,AAD14866,BAC04699,BAG60555,AAH35294,NP_001161051 Hs.936 FRTS2|NAPI-3|NPHLOP1|NPT2|NPTIIa|SLC11|SLC17A2 Na(+)-dependent phosphate cotransporter 2A|Na(+)/Pi cotransporter 2A|Na+-phosphate cotransporter type II|naPi-2a|renal sodium-dependent phosphate transporter|sodium-dependent phosphate transport protein 2A|sodium-phosphate transport protein 2A|sodium/phosphate co-transporter|sodium/phosphate cotransporter 2A|solute carrier family 17 (sodium phosphate), member 2|solute carrier family 34 member 1|solute carrier family 34, member 1 protein-coding 733113 SLC34A2 solute carrier family 34 (sodium phosphate), member 2 1580863 19134407,10329428,19119262,18724815,17095743,16960801,16344560,16303743,15458926,14702039,12477932,11880379,11171583,10610722,12488042,12893629,15970207,19617834,20017296,20046000,20457063,8889548,21036732 10568 NM_006424,AC092436,AF234245,CH471069,AF111856,AF146796,AK075015,AK075045,AK075046,AK292675,AK314514,BC142704,BC146666,CA435368,DB201517,CN479082,DB241180,NG_021185,NM_001177998,NM_001177999 NP_006415,AAL55657,EAW92842,AAC98695,AAF31328,BAC11354,BAF85364,AAI42705,AAI46667,O95436,NP_001171469,NP_001171470 Hs.479372 FLJ90534|NAPI-3B|NAPI-IIb|NPTIIb OTTHUMP00000218055|OTTHUMP00000218056|sodium-dependent phosphate transport protein 2B|sodium/phosphate cotransporter 2B|type II sodium-dependent phosphate transporter 3b protein-coding 1348656 SLC34A3 solute carrier family 34 (sodium phosphate), member 3 SLC34A3 contributes to the maintenance of inorganic phosphate (Pi) concentration at the kidney (Segawa et al., 2002 [PubMed 11880379]).[supplied by OMIM] 1299524,1580863 11880379,16358214,18480181,17968493,16955105,16358215,15504899,14702039,12477932,14531806,19820004 1299524 142680 NM_080877,BX255925,AB055000,AK095999,AL832449,BC029942,NG_017008,NM_001177316,NM_001177317 NP_543153,CAM24147,BAB83242,BAC04667,Q8N130,AAI72399,NP_001170787,NP_001170788 Hs.432442 FLJ38680|HHRH|NPTIIc Na(+)-dependent phosphate cotransporter 2C|Na(+)/Pi cotransporter 2C|naPi-2c|sodium-dependent phosphate transport protein 2C|sodium-phosphate transport protein 2C|sodium/inorganic phosphate cotransporter IIC|type IIc Na+/Pi cotransporter protein-coding 1322776 SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 The SLC35A1 gene encodes a CMP-sialic acid transporter located within the membrane of the Golgi apparatus. The transporter moves nucleotide sugars across the membrane for use in glycosylation reactions that take place within the Golgi department (Eckhardt et al., 1996 [PubMed 8755516]). For background information on the SLC35 family of nucleotide-sugar transporters, see SLC35A3 (MIM 605632).[supplied by OMIM] 1580863 9644260,16923816,16344560,16343442,15576474,15489334,14702039,14574404,12682060,12477932,9010752,8889548,8755516,8617505,8427599,964426,17207965 10559 NM_006416,AL049697,CH471051,AJ810302,AJ810303,AJ851888,AJ851889,AJ851890,AK293696,AK299432,AL122119,BC008372,BC017807,BG699364,CB242593,CR618258,CR626359,D87969,DB095595,DA210713,NG_016207,NM_001168398 NP_006407,CAB76857,EAW48599,CAH17780,CAH17781,CAH65468,CAH65469,CAH65470,BAG57132,BAG61410,CAH56397,AAH17807,BAA13522,P78382,Q5W1L6,Q5W1L7,Q5W1L8,Q659E4,Q6A0F2,Q6A0F3,ADQ32146,NP_001161870 Hs.423163 CDG2F|CMPST|CST|FLJ76955|hCST|inactive CMP-SA-Tr|CMP-Sia-Tr|CMP-sialic acid transporter|mutated CMP-sialic acid transporter A1|solute carrier family 35 (CMP-sialic acid transporter), member 1|solute carrier family 35 (UDP-galactose transporter), member 1|solute carrier family 35 member A1 protein-coding 1353471 SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 1580863 9010752,16189514,14702039,12925779,12477932,11389099,11279205,9399569,9373149,8889805,8128316,8125298,18029348 7355 NM_005660,NM_001042498,NM_001032289,AB042425,AF207550,CH471224,AK090730,AK225508,AK290284,AK292816,AK293415,AK293419,AK298484,AK299748,BC035747,CR450287,CR596762,CR603860,CR604809,D84454,D88146 NP_005651,NP_001035963,NP_001027460,BAA95614,BAA95615,EAW50731,EAW50732,EAW50733,EAW50734,BAC03509,BAF82973,BAF85505,BAG56922,BAG56926,BAG60694,BAG61639,AAH35747,CAG29283,BAA12673,BAA13545,P78381,Q6ICV6,Q8IV21,Q8NBD6 Hs.21899 UGALT|UGAT|UGT|UGT1|UGT2|UGTL OTTHUMP00000025817|OTTHUMP00000025819|UDP-Gal-Tr|UDP-galactose translocator|UDP-galactose transporter|solute carrier family 35 (UDP-galactose transporter), member 2|solute carrier family 35 member A2 protein-coding 1318491 SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 1580863 3099781,1736542,10393322,16691598,12477932,8093218,3264072,2829950 23443 NM_012243,AC118553,CH471097,AB021981,AK024989,AK290573,BC005136,CR605935,CR749816 NP_036375,EAW72977,EAW72978,EAW72979,BAA77841,BAF83262,AAH05136,CAH18676,Q9BSB7,Q9Y2D2 Hs.448979 DKFZp781P1297 OTTHUMP00000012509|UDP-N-acetylglucosamine transporter|golgi UDP-GlcNAc transporter|solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3|solute carrier family 35 member A3 protein-coding 1348037 SLC35A4 solute carrier family 35, member A4 1580863 12782588,12477932,17207965 113829 NM_080670,AC011399,AC116353,CH471062,AF445025,AJ420598,AK122601,AK289378,AK307282,AL833972,BC009906,CR614744 NP_542401,EAW62040,AAL38586,BAC85488,BAF82067,CAD38817,AAH09906,Q6ZWL2,Q8WYR7,Q96G79,ADQ32306 Hs.406840 MGC2541 OTTHUMP00000223644|probable UDP-sugar transporter protein SLC35A4|solute carrier family 35 (UDP-galactose transporter), member A4|tumor rejection antigen protein-coding 1344135 SLC35A5 solute carrier family 35, member A5 1580863 14702039,12975309,12477932,17207965 55032 NM_017945,AC048334,AC092692,CH471052,AK000737,AK001992,AK098839,AK172825,AK297411,AL117531,AY358994,BC005207,BC010307,BC013046 NP_060415,EAW79666,EAW79667,BAA91350,BAD18792,BAG59846,CAH10717,AAQ89353,AAH05207,AAH10307,AAH13046,Q9BS91,ADQ32726 Hs.237480 DKFZp434E102|FLJ11130|FLJ20730|FLJ25973 OTTHUMP00000214566|OTTHUMP00000214567|probable UDP-sugar transporter protein SLC35A5 protein-coding 1351742 SLC35B1 solute carrier family 35, member B1 1580863 9010752,15489334,20800603,14702039,12477932,8617505,8076819 10237 NM_005827,AC015795,CH471109,AK098056,BC011888,BX641166,CR595746,CR600895,CR618351,CR623671,CR625983,CR626561,D87989,AK293563,AK296073 NP_005818,EAW94665,EAW94666,EAW94667,EAW94668,EAW94669,EAW94670,AAH11888,CAE46073,BAA13525,P78383,Q6MZG2,ABM84351,ABW03613,BAG57035,BAG58831 Hs.154073 UGTREL1 OTTHUMP00000220579|UDP-galactose transporter related|UDP-galactose transporter-related protein 1|hUGTrel1|solute carrier family 35 member B1 protein-coding 1349281 SLC35B2 solute carrier family 35, member B2 Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM] 1580863 19773279,12716889,12761501,17081983,16344560,16303743,15489334,14574404,12477932,9373149,8125298 347734 NM_178148,AL139392,CH471081,AB097021,AB097039,AB106538,AK075456,AK123749,AK223028,AK293251,AK293344,AK307572,AY491520,BC016839,BC024288,CR592165,CR618400,CR618464,CR619109,DA383304 NP_835361,CAI20100,CAI20101,EAX04261,BAC77374,BAC77392,BAC79117,BAC11631,BAG53951,BAD96748,BAG56783,BAG56860,AAS79661,AAH16839,AAH24288,Q8TB61,ABM84240,ABM87627,ABM87631,ABW03805 Hs.182885 PAPST1|SLL|UGTrel4 3'-phosphoadenosine 5'-phosphosulfate transporter|OTTHUMP00000016514|PAPS transporter 1|adenosine 3'-phospho 5'-phosphosulfate transporter 1|putative MAPK-activating protein PM15|putative NF-kappa-B-activating protein 48|solute carrier family 35 member B2 variant 2 protein-coding 1316221 SLC35B3 solute carrier family 35, member B3 Sulfation of a variety of molecules, including glycoproteins, proteoglycans, and glycolipids, requires 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS), a high-energy form of the universal sulfate donor. SLC35B3 translocates PAPS from the cytosol or nucleus, where it is synthesized, to the Golgi lumen for use (Kamiyama et al., 2006 [PubMed 16492677]).[supplied by OMIM] 1580863 16793546,16492677,15489334,14574404,12477932,10810093,17207965 51000 NM_015948,NM_001142540,NM_001142541,AL355815,CH471087,AB231931,AF132953,AK303940,AK304250,AK313522,BC006973,BX538271,BX641086,BX647208,BX648022,CR605449,CR626516,DC357624 NP_057032,NP_001136012,NP_001136013,CAC19504,EAW55233,EAW55234,EAW55235,EAW55236,EAW55237,EAW55238,EAW55239,EAW55240,BAE93015,AAD27728,BAG64868,BAG65117,BAG36302,AAH06973,CAD98078,CAE46041,Q9H1N7,ADQ31774 Hs.285847 C6orf196|CGI-19|PAPST2 3' phosphoadenosine 5' phosphosulfate transporter 2|3'-phosphoadenosine 5'-phosphosulfate transporter|PAPS transporter 2|adenosine 3'-phospho 5'-phosphosulfate transporter 2 protein-coding 1319077 SLC35B4 solute carrier family 35, member B4 Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM] 1580863 15911612,16965264,16344560,16341674,16303743,15489334,14702039,12690205,12477932,9373149,8125298 84912 AK027726,AK056475,AK075368,AK222874,AK307621,BC008413,BE894120,BI756619,BM458284,BM800938,BM806557,BQ082178,BX328982,BX646379,DA208815,NM_032826,AC008154,CH236950,CH471070,CS051163,AB052892,AI274082,AI695174,AI948585,AJ315497,AJ315498,AJ971941,AK027603 BAB55325,BAC11573,BAD96594,AAH08413,Q969S0,NP_116215,EAL24071,EAW83809,EAW83810,EAW83811,EAW83812,CAI72077,BAB61040,CAC84567,CAC84568,CAI98963,BAB55225 Hs.490181 FLJ14697|YEA|YEA4 UDP-Xylose/N-Acetylglucosamine transporter|UDP-xylose and UDP-N-acetylglucosamine transporter|YEA4 homolog protein-coding 1319816 SLC35C1 solute carrier family 35, member C1 This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599002,1580863 17207965,17884843,16455955,16344560,15489334,14702039,12477932,12406889,11326279,9373149,8125298,11326280 1599002 55343 GM744699,NM_001145265,NM_001145266,NG_009875,AC044839,CH471064,CQ783756,AF323970,AF326199,AK000527,AK002182,AK027394,AK027747,AK074929,AK091245,AK225428,AK315473,AL547030,BC001427,CR607230,DB287838,NM_018389 ADQ32732,CAV31712,Q96K20,NP_060859,NP_001138737,NP_001138738,EAW68031,EAW68032,EAW68033,CAF86846,AAK50397,AAK51705,BAA92126,BAB55080,BAB55339,BAG52032,BAG52316,BAG37859,AAH01427,Q96A29 Hs.12211 CDG2C|FLJ11320|FLJ14841|FUCT1 GDP-fucose transporter 1 protein-coding 1322607 SLC35C2 solute carrier family 35, member C2 Oxygenation levels play an important role in the regulation of cellular invasiveness which occurs during early implantation when the trophoblast cells invade the uterus as well as during tumour progression and metastasis. This gene, which is regulated by oxygen tension, is induced in hypoxic trophoblast cells and is overexpressed in ovarian cancer. Two protein isoforms are encoded by transcript variants of this gene. 16341674,11247664,10810093,9373149,8125298,15489334,14702039,12477932,12461647,11934252,11856893,11780052,11549316 51006 AF132949,AF455052,AK094358,AK128842,AK222928,AK315726,AW275152,BC014191,NM_015945,NM_173073,AL133227,CH471077,NM_173179,BC021138,BC025277,BM846744,CR590584,CR593672,CR596090,CR598943,CR605819,CR609774,CR610991,CR612071,CR612094,CR616219,AK300207,AK300798,AK301022 EAW75753,AAD27724,AAL59605,BAD96648,NP_775271,NP_057029,NP_775096,CAC00659,CAI40552,CAI40553,CAI40554,CAI40555,EAW75747,EAW75748,EAW75749,EAW75750,EAW75751,EAW75752,AAH14191,AAH21138,AAH25277,Q53GK3,Q5JW02,Q9NQQ7,ABM82820,ABM87836,BAH13238,BAH13350,BAH13392 Hs.593344 BA394O2.1|C20orf5|CGI-15|FLJ37039|FLJ46434|MGC20633|MGC32079|MGC39183|OVCOV1 OTTHUMP00000031694|ovarian cancer overexpressed 1|ovarian cancer-overexpressed gene 1 protein|solute carrier family 35 member C2 protein-coding 1320404 SLC35D1 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. SLC35D1 is a nucleotide sugar transporter that localizes to the ER and transports both UDP-glucuronic acid and UDP-N-acetylgalactosamine (Muraoka et al., 2001 [PubMed 11322953]).[supplied by OMIM] 1580863 17952091,16710414,15489334,12477932,12107410,11322953,9039502,8889548,17482904,19508970,20379614 23169 NM_015139,AL133320,CH471059,AB044343,AK289800,BC093786,BC112031,BQ001392,BU619019,BU679620,CA391890,D87449,NG_012933,AL500525 NP_055954,CAB92090,EAX06504,BAB18586,BAF82489,AAH93786,AAI12032,BAA13390,Q9NTN3 Hs.213642 KIAA0260|MGC138236|UGTREL7 UDP-GlcA/UDP-GalNAc transporter|UDP-galactose transporter-related 7|UDP-galactose transporter-related protein 7|UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter|solute carrier family 35 member D1 protein-coding 1319900 SLC35D2 solute carrier family 35, member D2 Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM] 1580863 9927678,19276090,15607426,15082721,12759756,12477932 11046 CH471174,AB106537,AB122077,AJ005866,AK024841,AK307890,BC009413,BC015146,BC100278,BC113579,CR595736,CR596006,CR596054,CR597058,CR601920,CR605179,CR614216,CR615006,NM_007001,AL160269 CAH71614,EAW92646,EAW92647,BAD14396,BAC99016,CAA06743,AAH09413,AAI00279,AAI13580,Q5VZJ2,Q76EJ3,NP_008932,CAH71613,ADR83361 Hs.494556 HFRC1|MGC117215|MGC142139|SQV7L|UGTrel8|hfrc SQV7-like protein|UDP-N-acetylglucosamine transporter|UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter|UDP-galactose transporter-related protein 8|fringe connection|homolog of Fringe connection protein 1 protein-coding 1319766 SLC35D3 solute carrier family 35, member D3 12477932 340146 NM_001008783,AL365223,CH471051,AK295424,AK316095,BC067217,BC087842 CAI15712,NP_001008783,EAW47939,BAG58370,BAH14466,AAH67217,AAH87842,Q5M8T2 Hs.369703 FRCL1|MGC102873|bA55K22.3 frc, fringe-like 1|fringe connection-like protein 1|solute carrier family 35 member D3 protein-coding 1319908 SLC35E1 solute carrier family 35, member E1 1580863 16303743,15489334,14702039,12477932,16169070 79939 AC008764,CH471106,AK024313,AK027699,AK027850,AK075355,AL080085,BC007731,BC014557,BC062562,BU619655,BX640756,NM_024881,CR457326 NP_079157,EAW84550,EAW84551,EAW84552,EAW84553,BAB14879,BAB55306,BAB55410,BAC11565,AAH14557,AAH62562,CAE45863,CAG33607,Q96K37,Q9H7U6 Hs.620596 DKFZp564G0462|FLJ14251|FLJ36689|MGC44954 OTTHUMP00000201992|solute carrier family 35 member E1 protein-coding 1319214 SLC35E2 solute carrier family 35, member E2 14702039,12477932,9455484 9906 NM_182838,AL031282,AK092315,AK126501,AL049665,BC062371,BC101666,BC112289,CR591109,CR612504,AI802363,DB461679,NM_001199787,XR_108287,XR_112077,XR_113328 NP_878258,CAI20037,CAI20038,BAC86569,CAB41241,AAI01667,AAI12290,Q5QPR8,Q6ZTL7,ADR83324,NP_001186716 Hs.707620 DKFZp686M0869|FLJ34996|FLJ44537|KIAA0447|MGC104754|MGC117254|MGC126715|MGC138494 OTTHUMP00000039052|solute carrier family 35, member E2 protein-coding 4109106 SLC35E2B solute carrier family 35, member E2B 12477932,14702039,15489334,16344560,16710414,9455484 728661 AB007916,AK022944,AK092311,AK125619,AK307886,AL031282,AL049249,AL691432,BC010500,BC073811,BC092507,BC110653,BQ446951,CR936618,DA794179,DB450858,NM_001110781 AAI10654,BAA32292,BAG52529,BAG54222,CAI56761,CAM12838,NP_001104251,Q5CZA4 Hs.655255 DKFZp564C093|DKFZp686M0869|FLJ43631|KIAA0447|MGC104754|MGC117254|SLC35E2 OTTHUMP00000096309|solute carrier family 35 member E2 protein-coding 1352847 SLC35E3 solute carrier family 35, member E3 12975309,12477932,17207965,20139978 55508 BC030504,BC049192,BE540822,BF971234,W00476,AC124890,CH471054,AA491309,AF148713,AK289645,NM_018656,AY358943,BC008412,BC021103 AAH21103,AAH30504,AAH49192,Q7Z769,ADQ32991,NP_061126,EAW97196,EAW97197,EAW97198,AAF73127,BAF82334,AAQ89302,AAH08412 Hs.506011 BLOV1 bladder cancer overexpressed protein|bladder cancer-overexpressed gene 1 protein|solute carrier family 35 member E3|solute carrier family 35, member E2 protein-coding 1602959 SLC35E4 solute carrier family 35, member E4 15461802,12477932 339665 NM_001001479,AC005006,CH471095,BC040191,BC093099,BC107119,CR456351,CR614052 NP_001001479,EAW59912,AAH40191,AAH93099,AAI07120,CAG30237,Q6ICL7,CAK54492,CAK54791 Hs.725375 MGC129826 solute carrier family 35 member E4 protein-coding 1353208 SLC35F1 solute carrier family 35, member F1 14702039,12477932,20639392,19305408,19584346,19587794,20200953,20379614,21076409 222553 NM_001029858,AL133379,AL136478,AL449196,AL450405,AL590621,CH471051,Z95326,AK092207,AK128717,AK295860,BC028615,BC036493,BC114925,BX640761 NP_001025029,CAI19872,CAM28261,CAI16177,EAW48199,EAW48200,CAI20271,BAG54715,BAG58664,AAH28615,AAH36493,AAI14926,CAE45867,Q5T1Q4 Hs.654841 C6orf169|FLJ13018|dJ230I3.1 solute carrier family 35 member F1 protein-coding 1344599 SLC35F2 solute carrier family 35, member F2 16344560,14702039,12477932,9119394,20379614 54733 NM_017515,AP001024,CH471065,AK023080,AK128062,AK300582,AY078178,BC039195,BC048302,CR595056,DA840333,DC352180,X99961,AL833969 NP_059985,EAW67095,EAW67096,EAW67097,EAW67098,EAW67099,BAB14394,BAC87256,BAG62281,AAL82572,AAH39195,AAH48302,CAA68226,Q8IXU6,Q8TE03,CAI46204 Hs.524014 DKFZp667H1615|FLJ13018|HSNOV1 lung squamous cell cancer related protein LSCC-3|solute carrier family 35 member F2 protein-coding 1347980 SLC35F3 solute carrier family 35, member F3 1580863 14702039,12477932,20379614,19913121,20628086 148641 NM_173508,AL122008,AL672045,AL713868,BX005090,CH471098,AK095031,BC037878 NP_775779,CAI22849,CAI22850,CAI14569,EAW69991,BAC04479,AAH37878,Q8IY50 Hs.158748 FLJ37712 solute carrier family 35 member F3 protein-coding 1351439 SLC35F4 solute carrier family 35, member F4 12477932 341880 NM_001080455,AL136520,AL161804,BC101318,BC101319,BC101320,BC101321 A4IF30,NP_001073924,AAI01319,AAI01321,AAI01322 Hs.28280 C14orf36|FLJ37712|c14_5373 solute carrier family 35 member F4 protein-coding 1317716 SLC35F5 solute carrier family 35, member F5 1580863 12975309,12477932 80255 NM_025181,AC017074,CH471103,AF529364,AK024666,AK025657,AK315719,AY358620,BC018537,BC050096,CR615423 NP_079457,AAY14808,EAW95174,EAW95175,EAW95176,EAW95177,AAQ09598,BAB14954,BAB15206,BAG38077,AAQ88983,AAH18537,Q8WV83 Hs.632527 FLJ22004 HCV NS5A-transactivated protein 3|OTTHUMP00000203796|hepatitis C virus NS5A-transactivated protein 3|solute carrier family 35 member F5 protein-coding 736301 SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. [provided by RefSeq] 633316,1580863 16341674,11256614,19409386,18230330,17050537,16381901,16331283,15754324,15521011,15489336,15058382,14702039,12809675,12598615,12527723,11959859,11390972,11230166,11076863,12477932,18195088,19074966,19358571,19549785 633316 206358 NM_078483,AC034205,CH471062,AF516142,AK000729,AK025102,AK057340,AK309323,AL833703,AY162213,AY227111,AY227112,AY227113,BC136437,BC136438,BK001052,BM787446,BX537963,GU296670 NP_510968,EAW61674,EAW61675,EAW61676,EAW61677,AAP47194,BAB71435,AAO11787,AAO37091,AAO37092,AAO37093,AAI36438,AAI36439,DAA01126,CAD97927,Q1LZ56,Q7Z2H8,Q86YK4,CAL38601,AAI46686,ACE87549,ACE86861,ADB56966 Hs.269004 Dct1|LYAAT1|PAT1|TRAMD3 hPAT1|lysosomal amino acid transporter 1|proton-coupled amino acid transporter 1|proton/amino acid transporter 1|solute carrier family 36 member 1|ysosomal amino acid transporter 1 protein-coding 1354285 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 18195088,19845895,14600155,12809675,12477932,11959859,19240061,15058382 153201 NM_181776,AC008385,CH471062,AK297682,AK309575,AY162214,AY228364,BC101100,BC101101,BC101102,BC101103,BX538285,DC362112,NG_027745 NP_861441,EAW61678,BAG60042,AAO11788,AAO74832,AAI01101,AAI01102,AAI01103,AAI01104,Q495M3 Hs.483877 FLJ16051|MGC119658|MGC119660|PAT2|TRAMD1 proton-coupled amino acid transporter 2|proton/amino acid transporter 2|solute carrier family 36 member 2|solute carrier family 36, member 2|tramdorin|tramdorin-1 protein-coding 1319236 SLC36A3 solute carrier family 36 (proton/amino acid symporter), member 3 15058382,12809675,12477932,19910524 285641 NM_181774,NM_001145017,AC008385,CH471062,AK127978,AK131483,AY162215,AY228365,BC101092,BC101093,BC101094,BC101095 NP_861439,NP_001138489,EAW61679,BAC87215,BAD18628,AAO11789,AAI01093,AAI01094,AAI01095,AAI01096,Q495N2 Hs.720893 FLJ16658|MGC119638|MGC119639|MGC119641|PAT3|TRAMD2|tramdorin2 proton-coupled amino acid transporter 3|proton/amino acid transporter 3|solute carrier family 36 member 3|solute carrier family 36, member 3|tramdorin 2|tramdorin-2 protein-coding 1323033 SLC36A4 solute carrier family 36 (proton/amino acid symporter), member 4 14702039,12477932 120103 AK096251,AY162216,BC047374,NM_152313,AP003072,CH471065,AJ295983 CAC82496,BAC04737,AAO11790,AAH47374,Q6YBV0,NP_689526,EAW66895,EAW66896,EAW66897 Hs.148766 FLJ38932|PAT4 proton-coupled amino acid transporter 4|proton/amino acid transporter 4|solute carrier family 36 member 4 protein-coding 1318445 SLC37A1 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 SLC37A1, a member of the sugar-phosphate transport family, transports glycerol-3-phosphate (G3P) between cellular compartments for its utilization in several compartment-specific biochemical pathways.[supplied by OMIM] 1580863 15862967,11112347,10830953,16009131 54020 NM_018964,AP001625,CH471079,AF311320,AJ269529,AJ277912,AJ277913,AK025993,AL355683,AW466890,BC042139,BI912541 NP_061837,EAX09552,EAX09553,AAG29853,CAB87248,CAB91985,CAB91986,P57057,AAI48369,AAI52998 Hs.547009 FLJ22340|G3PP G-3-P permease|G-3-P transporter|OTTHUMP00000109362|glycerol-3-phosphate permease|glycerol-3-phosphate transporter|solute carrier family 37 member 1 protein-coding 1313712 SLC37A2 solute carrier family 37 (glycerol-3-phosphate transporter), member 2 12811562,12477932 219855 NM_198277,NM_001145290,AP001007,AP003172,CH471065,AF318322,AK074100,AK074207,AK290314,AK296975,BC051314,BC062990 NP_938018,NP_001138762,EAW67619,EAW67620,EAW67621,EAW67622,AAL55829,BAB84926,BAB85016,BAF83003,BAH12466,AAH51314,AAH62990,Q8TED4,Q8WYX4 Hs.352661 FLJ00171|MGC71430|pp11662 solute carrier family 37 member 2|sugar phosphate exchanger 2 protein-coding 1321198 SLC37A3 solute carrier family 37 (glycerol-3-phosphate transporter), member 3 12811562,12690205,12477932,11230166,9847074 84255 NM_032295,NM_207113,AC093087,CH236950,CH471070,CQ834428,AK074823,AK126589,AK296543,AK299276,AK300265,AL136583,BC028380,BC046567,CD101739,CR614619,CR626251 NP_115671,NP_996996,AAQ93361,EAL24030,EAL24031,EAW83943,EAW83944,EAW83945,EAW83946,EAW83947,CAH05429,BAC11231,BAG54349,BAG59167,BAG61295,BAG62026,CAB66518,AAH28380,AAH46567,Q8NCC5,ACE87642,ACE87670,ACE86951,ACE86981,ADR82761 Hs.446021 MGC32939 OTTHUMP00000211978|solute carrier family 37 member 3|sugar phosphate exchanger 3 protein-coding 1351082 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants. 1599000,1625641 12560945,9428641,212064,19008136,18267120,17460777,17354259,16777101,16435186,16344560,15906092,15669677,15489334,15260472,17207965,20578944,15059622,12477932,12409273,11949931,11071391,11032333,10931421,10923042,10874322,10518030,10482962,10482875,10323254,10318794,10026167,10023055,9925924,9856496,9822626,9781688,9758626,9675154,9598717,9463334,11140953 1599000,1625641 2542 NM_001164277,NM_001164278,NM_001164279,NM_001164280,AF078163,AF097831,AF116864,AP003392,CH471065,Y17864,AB209026,AF110819,AF110820,AF110821,AF110822,AF111852,AK289642,NM_001467,AK294993,AK298395,AK300646,AK312628,AY423732,BC002400,BC003589,BC014663,BC015650,BC064563,BM506735,CR456733,CR594127,CR606876,CR613282,CR624130,DA485567,DC295438,Y15409,NG_013331 NP_001458,NP_001157749,NP_001157750,NP_001157751,NP_001157752,AAC72916,AAD19898,AAD13111,EAW67432,EAW67433,EAW67434,EAW67435,EAW67436,EAW67437,EAW67438,EAW67439,CAA76898,BAD92263,AAF37735,AAF37736,AAF16691,Q6IBR9,ADQ32771,BAF82331,BAH11943,BAG60630,BAG62334,AAS00495,AAH02400,AAH03589,AAH14663,AAH15650,AAH64563,CAG33014,CAA75608,O43826,Q59GT3 Hs.719203 G6PT1|G6PT2|G6PT3|GSD1b|GSD1c|GSD1d|MGC15729|PRO0685|TRG-19|TRG19 glucose-5-phosphate transporter|glucose-6-phosphatase, transport (glucose) protein 3|glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1|glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2|glucose-6-phosphate translocase|microsomal glucose-6-phosphate transporter|solute carrier family 37 member 4|transformation-related gene 19 protein protein-coding 735316 SLC38A1 solute carrier family 38, member 1 Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM] 10891391,18703994,17549407,16344560,16303743,15054072,14702039,12477932,11325958,9373149,8125298,16516348,18195088,19442705,20308991,20379614,20599747 81539 CR595454,DB229647,NM_030674,NM_001077484,AC016254,AC025031,CH471111,AF247166,AF271070,AK024263,AK025900,AK027825,AK056670,AK074758,AK074797,AK074851,AK074949,AK130314,AK225639,AK225778,AK308129,AK309410,AK313731,BC010620,BX647547,BX648495,BX648676,CR594705 Q8NCD8,Q9H2H9,ABM81943,ABW03351,NP_109599,NP_001070952,EAW57895,EAW57896,EAW57897,EAW57898,EAW57899,AAG44546,AAG39354,BAB55394,BAC11186,BAC11215,BAC11310,AAH10620 Hs.533770 ATA1|NAT2|SAT1|SNAT1 N-system amino acid transporter 2|amino acid transporter A1|amino acid transporter system A1|sodium-coupled neutral amino acid transporter 1|system A amino acid transporter 1|system N amino acid transporter 1 protein-coding 1601937 SLC38A10 solute carrier family 38, member 10 14702039,12477932 124565 NM_001037984,NM_138570,AC027601,CH471099,AF086389,AI476273,AK128263,BC007391,BC011702,BC014156,BC014642,BC020925,BI194553,BQ642219,BU552914,CA416101,AK093037 NP_001033073,NP_612637,EAW89641,EAW89642,EAW89643,BAC04027,AAH14642,AAH20925,Q8WW39,Q9HBR0 Hs.352240 FLJ35718|FLJ46399|MGC15523|PP1744 putative sodium-coupled neutral amino acid transporter 10 protein-coding 1605863 SLC38A11 solute carrier family 38, member 11 14702039,12477932,20379614 151258 NM_173512,AC019197,CH471058,AK097141,BC125156,BC125157,AK293998,NM_001199148 NP_775783,AAY14946,EAX11337,BAC04962,AAI25158,Q08AI6,BAG57360,NP_001186077 Hs.658702 AVT2|FLJ39822|MGC150450 OTTHUMP00000204829|OTTHUMP00000204831|putative sodium-coupled neutral amino acid transporter 11 protein-coding 736694 SLC38A2 solute carrier family 38, member 2 68920,1580863 20206993,18703994,18697751,17237199,16621896,16621798,16616430,16445384,16344560,16125834,15951569,15922329,15581851,14702039,14623874,12477932,12054432,10930503,10747860,10718198,16169070,18195088,19589777,19741197 68920 54407 NM_018976,AC025031,CH471111,AB037803,AF259799,AF298897,AJ344099,AK001700,AK172784,AK291644,AK293858,BC016909,BC029379,BC040342,CR457267,CR595332,CR606904,DA725217 NP_061849,EAW57900,EAW57901,EAW57902,BAA92620,AAK38510,AAG24618,CAC51434,BAA91846,BAD18765,BAF84333,BAG57253,AAH29379,AAH40342,CAG33548,Q8NHT5,Q96QD8,Q9P1K8,ABM82727,ABM85911 Hs.221847 ATA2|KIAA1382|PRO1068|SAT2|SNAT2 amino acid transporter 2|amino acid transporter A2|protein 40-9-1|sodium-coupled neutral amino acid transporter 2|system A amino acid transporter 2|system A transporter 1|system N amino acid transporter 2 protein-coding 730997 SLC38A3 solute carrier family 38, member 3 634178,1580863 18195088,19892400,10823827,16641997,16432833,16381901,15489336,15489334,15342556,15094455,12788082,12477932,11256614,11230166,11085536,11076863,10619430,16169070 634178 10991 NM_006841,AC002077,CH471055,AF244548,AK293801,AK299677,AK313461,BC042875,BP362985,BX537382,CR456970,U49082 NP_006832,EAW65049,EAW65050,AAG15313,BAH11599,BAH13100,BAG36247,AAH42875,CAD97624,CAG33251,AAB47236,Q99624,CAL37630,CAL38420 Hs.76460 G17|NAT1|SN1 N-system amino acid transporter 1|Na(+)-coupled neutral amino acid transporter 3|sodium-coupled neutral amino acid transporter 3|system N amino acid transporter 1|system N1 Na+ and H+-coupled glutamine transporter protein-coding 1347009 SLC38A4 solute carrier family 38, member 4 SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM] 1580863 19015196,18703994,16344560,16148032,15489334,14702039,12845534,12477932,11414754,11342143,16712791,18195088 55089 NM_018018,AC008014,AC080136,CH471111,AB055003,AF193836,AF305814,AK001053,AK291168,BC069819,BC101827,BC104913,CB164010,NM_001143824,DB139964 NP_001137296,NP_060488,EAW57917,EAW57918,EAW57919,EAW57920,BAB84090,AAK71508,AAK43528,BAA91481,BAF83857,AAH69819,AAI01828,AAI04914,Q969I6,Q9NWA2 Hs.446077 ATA3|FLJ10191|MGC126876|NAT3|PAAT N amino acid transporter 3|Na(+)-coupled neutral amino acid transporter 4|amino acid transporter A3|amino acid transporter system A3|sodium-coupled neutral amino acid transporter 4|system A amino acid transporter 3|system N amino acid transporter 3 protein-coding 730905 SLC38A5 solute carrier family 38, member 5 System N amino acid transporters, such as SLC38A5, mediate Na(+)-coupled transport of neutral amino acids, in particular glutamine, asparagine, and histidine (Nakanishi et al., 2001 [PubMed 11243884]).[supplied by OMIM] 11243884,17333282,16344560,14702039,12477932,18195088 92745 NM_033518,CH471224,AF276889,AF318358,AK094788,BC019246,BC027721,DA089769,NG_021469 NP_277053,EAW50785,EAW50786,EAW50787,EAW50788,EAW50789,EAW50790,AAK61856,AAL55865,BAG52932,AAH19246,AAH27721,Q8WUX1,ABM83986,ABM87311 Hs.195155 JM24|SN2|SNAT5|pp7194 OTTHUMP00000025789|OTTHUMP00000025791|OTTHUMP00000025794|sodium-coupled neutral amino acid transporter 5|system N transporter 2 protein-coding 1321172 SLC38A6 solute carrier family 38, member 6 12477932,9110174,8619474,15342556,18029348 145389 NM_153811,AL160234,AL160236,CH471061,AF070578,AF543422,AK303839,BC050349,BC064429,BC110378,BX248072,BX648332,BP352279,DC394244,DR002669,NM_001172702,NR_033344 NP_722518,EAW80793,EAW80794,EAW80795,EAW80796,EAW80797,EAW80798,AAN47144,BAG64783,AAI10379,CAD62361,Q8IZM9,NP_001166173 Hs.200738 MGC102697|NAT-1 N system amino acid transporter NAT-1|N-system amino acid transporter 1|Na(+)-coupled neutral amino acid transporter 6|OTTHUMP00000179048|probable sodium-coupled neutral amino acid transporter 6 protein-coding 1602480 SLC38A7 solute carrier family 38, member 7 19305408,8125298,14702039,12477932,9373149 55238 AK299424,NM_018231,AC010287,CH471092,AK001677,AK022786,AK222932,BC001961,BC063399,CR457236,CR596148 BAG61404,NP_060701,EAW82985,EAW82986,EAW82987,BAA91830,BAB14244,BAD96652,AAH01961,CAG33517,Q9NVC3 Hs.10499 FLJ10815|FLJ12724 amino acid transporter|putative sodium-coupled neutral amino acid transporter 7 protein-coding 2290191 SLC38A8 solute carrier family 38, member 8 11181995,20379614 146167 NM_001080442,AC040169,CH471114 NP_001073911,EAW95507,A6NNN8 Hs.461575 putative sodium-coupled neutral amino acid transporter 8 protein-coding 1604225 SLC38A9 solute carrier family 38, member 9 16303743,14702039,12477932 153129 AC008784,AC016632,CH471123,CQ783277,CQ834820,AK075190,AK122957,AK127988,AK301850,BC036232,BC045589,BC066891,BC101361,BC101362,BU632379,BX641065,NM_173514,DC371481,CR608660 NP_775785,EAW54925,EAW54926,EAW54927,EAW54928,CAF86482,CAH05625,BAC11460,BAG53820,BAG54613,BAH13566,AAH66891,AAI01363,CAE46032,Q8NBW4 Hs.726519 FLJ46104|FLJ90709|MGC120544 OTTHUMP00000161835|OTTHUMP00000221658|OTTHUMP00000221768|OTTHUMP00000221769|OTTHUMP00000221770|putative sodium-coupled neutral amino acid transporter 9 protein-coding 1313154 SLC39A1 solute carrier family 39 (zinc transporter), member 1 10610721,19026724,18765529,18279033,17635580,16303743,16203195,16153295,15489334,14702039,14525987,12888280,12477932,11696349,11301334,10810093,10681536,10477520,16169070,19644445,19802870,20233718 27173 NM_014437,AJ243650,AL358472,CH471121,CQ783764,AF132942,AF151829,AJ243649,AJ271671,AK074943,AK075257,AK293389,AK297983,AK300244,BC002563,BC003152,BC007886,BC014303,BC047288,BC069261,CR457217,CR592329,CR593791,CR594039,CR595892,CR599760,CR602803,CR603018,CR605081,CR608696,CR613217,CR613985,CR614937,CR615172,CR615763,CR616009,CR616553,CR616913,CR618422,CR621955,CR624762 NP_055252,CAB59980,CAI14019,CAI14020,CAI14021,CAI14022,EAW53259,EAW53261,EAW53264,EAW53265,EAW53267,CAF86850,AAD27717,AAD34066,CAB59979,CAB82784,BAG52035,BAC11502,BAG56898,BAG60292,BAG62011,AAH02563,AAH03152,AAH07886,AAH14303,CAG33498,Q5T4K1,Q5T4K2,Q5T4K3,Q5T4K4,Q6IAD8,Q9NY26,ABM84545,ABM86276 Hs.7854 ZIP1|ZIRTL OTTHUMP00000035259|OTTHUMP00000035262|OTTHUMP00000035263|OTTHUMP00000038686|ZIP-1|hZIP1|solute carrier family 39 (zinc transporter), member 3|solute carrier family 39 member 1|zinc transporter ZIP1|zinc-iron regulated transporter-like|zinc-iron-regulated transporter-like|zinc/iron regulated transporter-like|zrt- and Irt-like protein 1 protein-coding 1316445 SLC39A10 solute carrier family 39 (zinc transporter), member 10 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 12659941,12477932,10574462,19064571,20379614 57181 NM_020342,AC013274,CH471063,AB033091,AI693720,AK074996,AK291241,AK294771,AL050294,BC010371,BC029413,BC047493,BC073909,BC101516,NM_001127257,BC112223,BX490118,CR599732,CR749813 NP_001120729,NP_065075,EAW70116,EAW70117,EAW70118,EAW70119,BAA86579,BAC11343,BAF83930,BAG57901,CAB43393,AAH29413,AAH73909,AAI12224,CAH18673,Q05C42,Q9ULF5,AAI01517,Q8NC35,ADR83428 Hs.650158 DKFZp781L10106|LZT-Hs2|MGC126565|MGC138428 ZIP-10|solute carrier family 39 (metal ion transporter), member 10|solute carrier family 39 member 10|zinc transporter ZIP10|zrt- and Irt-like protein 10 protein-coding 1323721 SLC39A11 solute carrier family 39 (metal ion transporter), member 11 1580863 19451621,20379614,16344560,14702039,12477932,11707075,11591653,8889548,19913121,20628086 201266 NM_139177,NM_001159770,AC011120,AC025198,AC080037,AC138336,CH471099,AF331643,AK095227,AK313376,BC035631,BU686998,CR613204,DA380043 NP_631916,NP_001153242,EAW89107,EAW89108,EAW89109,AAL32175,BAC04504,BAG36174,AAH35631,Q8N1S5 Hs.221127 C17orf26|ZIP11 ZIP-11|Zrt- and Irt-like protein 11|solute carrier family 39 member 11|zinc transporter ZIP11 protein-coding 1319582 SLC39A12 solute carrier family 39 (zinc transporter), member 12 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 16311021,14702039,12659941,12477932,16385451,19064571,20379614 221074 NM_001145195,NM_152725,AC069023,AL360231,AL590111,CH471072,AK055061,AK295294,AK303735,BC035118,BC047635,BC065917,BC094700,BC117323,BC143551,DB469365 NP_001138667,NP_689938,CAH70123,CAH70124,CAI15903,CAI15904,EAW86199,EAW86200,EAW86201,BAB70848,BAH12025,BAH14035,AAH35118,AAH47635,AAH65917,AAH94700,AAI17324,AAI43552,Q504Y0,ADR83097 Hs.350895 FLJ30499|MGC43205|MGC51099|bA570F3.1 LIV-1 subfamily of ZIP zinc transporter 8|LZT-Hs8|ZIP-12|solute carrier family 39 (metal ion transporter), member 12|solute carrier family 39 member 12|zinc transporter ZIP12|zrt- and Irt-like protein 12 protein-coding 1312289 SLC39A13 solute carrier family 39 (zinc transporter), member 13 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A13 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 1580863 18513683,12659941,12477932,19064571,8889548 91252 NM_152264,NM_001128225,AC090559,CH471064,AK098651,AL133581,BC008853,BC019016,BX342307,BX647491,CR601409,CR605826,DR001557,BI918365,CF132216,NG_017073 NP_689477,NP_001121697,EAW67917,EAW67918,EAW67919,EAW67920,EAW67921,EAW67922,EAW67923,BAC05365,CAH56389,AAH08853,AAH19016,Q96H72,ABM83174,ABW03478 Hs.523664,Hs.720102 FLJ25785 LIV-1 subfamily of ZIP zinc transporter 9|LZT-Hs9|solute carrier family 39 (metal ion transporter), member 13|zinc transporter ZIP13|zrt- and Irt-like protein 13 protein-coding 1315975 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A14 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 1580863 20587610,18029348,18524764,15863613,15642354,12659941,12477932,9391139,7584044,20682781 23516 NM_001135154,NM_015359,NM_001128431,NM_001135153,AC087854,AC105910,CH471080,AA181885,AF026940,AK172810,AK295807,BC000068,BC015770,BX648538,CR590468,CR595575,CR612888,D31887,DC323208,DC423882 NP_001128626,NP_056174,NP_001121903,NP_001128625,EAW63680,EAW63681,EAW63682,EAW63683,BAD18780,BAG58625,AAH15770,BAA06685,Q15043 Hs.491232 KIAA0062|LZT-Hs4|NET34|ZIP14|cig19 LIV-1 subfamily of ZIP zinc transporter 4|OTTHUMP00000123433|ZIP-14|Zrt-, Irt-like protein 14|solute carrier family 39 (metal ion transporter), member 14|solute carrier family 39 member 14|zinc transporter ZIP14|zrt- and Irt-like protein 14 protein-coding 1314826 SLC39A2 solute carrier family 39 (zinc transporter), member 2 1580863 10681536,18676680,18328005,18279033,17786585,17550612,16344560,15489334,15342556,12477932,7751801,10477520,11590192,11831460,12002684,12730457,12748861,17473989,18326752,19170196,19625176,19692168 29986 NM_014579,AL161668,AL355922,CH471078,AF186081,AK314974,AY029483,BC096723,BC098254,BC098274,BC110057,BP359281,CR621267,D83039,DA871745,NG_017065,NR_033419 NP_055394,EAW66431,AAF35832,BAG37473,AAK40258,AAH96723,AAH98254,AAI10058,BAA94313,Q9NP94 Hs.175783 6A1|Eti-1|MGC119190|ZIP-2|ZIP2|hZIP2 Zrt- and Irt-like protein 2|solute carrier family 39 member 2|zinc transporter ZIP2 protein-coding 1322010 SLC39A3 solute carrier family 39 (zinc transporter), member 3 1580863 19308021,18279033,17550612,15054103,14702039,14525987,12477932,10681536,9110174,8619474 29985 NM_144564,NM_213568,AC006538,CH471139,AF052125,AK002044,AK302600,BC000815,BC005869,BC017009,BC020571,BG719479,BQ898834,CR591681,CR591971,CR598984,CR602071,CR618109 NP_653165,NP_998733,EAW69369,EAW69370,BAG51005,BAG63850,AAH05869,AAH20571,Q9BRY0 Hs.515046 ZIP3 ZIP-3|solute carrier family 39 member 3|zinc transporter ZIP3|zrt- and Irt-like protein 3 protein-coding 1315470 SLC39A4 solute carrier family 39 (zinc transporter), member 4 This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The transmembrane protein is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica, a rare inherited defect in the absorption of dietary zinc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599005 18328205,18003899,17202136,16682017,16344560,15489334,14709598,14702039,14612438,12801924,12787121,12068297,12032886,12659941,12477932,20970119,20587610,19370757,19416242,19416256,19755388,20023433,20160059,16986515 1599005 55630 BC001688,BC033807,BC062625,BI765535,CR600637,DA837547,DA915781,AK290563,NM_130849,NM_017767,NG_012234,AF205589,CH471162,CQ834282,AK000334,AK000489,AK000695,AK025537,AK056900,AC233992 BAF83252,AAH01688,AAH62625,Q6P5W5,Q9NX22,NP_570901,NP_060237,EAW82101,EAW82102,EAW82103,EAW82104,EAW82105,CAH05356,BAA91091,BAA91200,BAB15164 Hs.521934 AEZ|FLJ20327|MGC74741|ZIP4 ZIP-4|solute carrier family 39 member 4|zinc transporter ZIP4|zrt- and Irt-like protein 4 protein-coding 1321159 SLC39A5 solute carrier family 39 (metal ion transporter), member 5 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A5 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 16344560,15489334,15322118,14702039,12839489,12659941,12477932 283375 NM_173596,NM_001135195,AC073896,CH471054,AK172768,AK298331,AK313188,BC027884,CR592568,DA640935,DA918133 NP_775867,NP_001128667,EAW96916,EAW96917,EAW96918,BAD18751,BAG60580,BAG36005,AAH27884,Q6ZMH5 Hs.591018 LZT-Hs7|MGC34778|ZIP5 ZIP-5|solute carrier family 39 member 5|zinc transporter ZIP5|zrt- and Irt-like protein 5 protein-coding 1312236 SLC39A6 solute carrier family 39 (zinc transporter), member 6 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 1580863 19336002,17207965,19066393,18330719,17825787,17786585,15986450,15489334,15340161,12960427,12839489,12659941,12477932,11911440,2903103,17959546,19724917,19852955,19887557 25800 NM_012319,NM_001099406,AC091060,CH471088,AK299102,AK301539,AK304079,BC008317,BC039498,BX336036,CA443894,DC369482,DC410860,DC414741,DR762943,U41060,CQ834422 NP_036451,NP_001092876,EAX01371,EAX01372,BAG61161,BAG63038,BAG64986,AAH08317,AAH39498,AAA96258,Q13433,CAH05426,ADQ33084 Hs.727638 LIV-1 LIV-1 protein, estrogen regulated|ZIP-6|estrogen-regulated protein LIV-1|solute carrier family 39 (metal ion transporter), member 6|solute carrier family 39 member 6|zinc transporter ZIP6|zrt- and Irt-like protein 6 protein-coding 1344767 SLC39A7 solute carrier family 39 (zinc transporter), member 7 Zinc is an essential cofactor for more than 50 classes of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. Zinc cannot passively diffuse across cell membranes and requires specific transporters, such as SLC39A7, to enter the cytosol from both the extracellular environment and from intracellular storage compartments.[supplied by OMIM] 1580863 17353931,8812499,19246244,19023099,18583420,17975119,16344560,16083285,15705588,15489334,14574404,14525538,12839489,12477932,9373149,8125298,1855816,19913121,20587610,20602615,20628086,19615732,19851445 7922 NM_001077516,AF117221,AL031228,AL645940,AL662824,AL844527,CH471081,CR354565,CR759733,CR759786,CR936877,AK225282,AK225682,AK301126,AK303158,NM_006979,BC000645,CR592348,CR597948,CR620514,CR622526,D82060,DA573310,DR158641,M58660,CR847841 NP_008910,NP_001070984,AAD12305,CAA20238,CAI18067,CAI17615,CAI41839,EAX03680,EAX03681,CAQ11085,CAQ10301,CAQ08249,CAQ09067,BAG62720,BAG64260,AAH00645,BAA11528,AAA63219,Q29984,Q92504,ABM82855,ABM86042 Hs.631995 D6S115E|D6S2244E|H2-KE4|HKE4|KE4|RING5|ZIP7 HLA class II region expressed gene KE4|Ke4 gene, mouse, human homolog of|histidine-rich membrane protein Ke4|really interesting new gene 5 protein|solute carrier family 39 member 7|zinc transporter SLC39A7 protein-coding 1317894 SLC39A8 solute carrier family 39 (zinc transporter), member 8 This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq] 1580863 18556457,18390834,18270315,16083285,14702039,12839489,12659941,12504855,12477932,20864672,19064571,19401385,20935630 64116 NM_001135146,NM_022154,NM_001135148,AC098487,AP002023,CH471057,AB020969,AB020970,AB040120,AF193052,AK027652,AK304274,AL049963,BC001320,BC012125,BF000600,BI823248,CA438467,CR624375,DR006301,NM_001135147 ABM83138,ABM86333,NP_001128619,NP_001128618,NP_071437,NP_001128620,EAX06129,EAX06130,EAX06131,EAX06132,BAA96442,BAB21559,AAG22480,BAB55268,BAG65135,AAH01320,AAH12125,Q9C0K1 Hs.288034 BIGM103|LZT-Hs6|PP3105|ZIP8 BCG induced integral membrane protein BIGM103|BCG-induced integral membrane protein in monocyte clone 103 protein|LIV-1 subfamily of ZIP zinc transporter 6|ZIP-8|Zrt- and Irt-like protein 8|solute carrier family 39 (metal ion transporter), member 8|solute carrier family 39 member 8|zinc transporter ZIP8 protein-coding 1322587 SLC39A9 solute carrier family 39 (zinc transporter), member 9 17207965,18029348,19420709,14702039,12975309,12477932,9373149,8125298,19064571 55334 NM_018375,AL157996,CH471061,AK002136,AK025831,AK222547,AK293222,AK310285,AK316381,AL137760,AY358687,AY780789,BC047682,BC064383,CR604607,FJ423549 ADQ32543,NP_060845,EAW80991,EAW80992,EAW80993,EAW80994,EAW80995,BAA92100,BAD96267,BAG56761,BAH14752,AAQ89050,AAV98359,AAH47682,AAH64383,ACR27086,Q9NUM3 Hs.432690 FLJ11274|MGC74989 ZIP-9|zinc transporter SLC39A9|zinc transporter ZIP9|zrt- and Irt-like protein 9 protein-coding 1345624 SLC3A1 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863,1600015 20800603,7573036,8054986,18778962,18752446,18332091,18234729,17010017,16358225,16138908,15913950,15818802,15818801,15818800,15815621,15691362,15635077,15489334,14991253,14702039,14561219,14531788,12820697,12477932,12372889,12239244,12234283,12167606,12060600,11748844,11458794,11318953,10799513,10588648,10574970,9373149,9186880,8663184,8486766,8125298,7789946,7686906,7575432,7568194,7539209,18195088,19782624,20146678 1600015 6519 NG_008233,AC013717,CH471053,U60819,AB033549,AK091932,AK092000,AK223146,AK289636,AK309145,AK313157,BC022386,BC093624,BC093626,NM_000341,DQ023512,DQ023513,DQ023514,DQ023515,DQ023516,DQ023517,L11696,M95548 NP_000332,AAX88955,EAX00278,EAX00279,AAB39829,BAB16841,BAG52443,BAD96866,BAF82325,BAG35975,AAH22386,AAH93624,AAH93626,AAY89643,AAY89644,AAY89645,AAY89646,AAY89647,AAY89648,AAA81778,AAA35500,Q07837,Q4J6B4,Q4J6B5,Q4J6B6,Q4J6B7,Q4J6B8,Q4J6B9,ABM82957,ABM86148 Hs.112916 ATR1|CSNU1|D2H|FLJ34681|NBAT|RBAT B(0,+)-type amino acid transport protein|OTTHUMP00000202385|OTTHUMP00000202387|OTTHUMP00000202389|SLC3A1 variant B|SLC3A1 variant C|SLC3A1 variant D|SLC3A1 variant E|SLC3A1 variant F|SLC3A1 variant G|amino acid transporter 1|neutral and basic amino acid transport protein rBAT|solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1 protein-coding 735716 SLC3A2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein with an alpha amylase domain. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. It associates with integrins and mediates integrin-dependent signaling related to normal cell growth and tumorigenesis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 15489334,15485886,15458438,15274339,15178563,15146197,14702039,14527684,12925876,12754519,12740424,12716892,12531285,12477932,12270127,12235164,12181350,11840567,11749697,11742812,11696247,11507094,11435306,11406111,11311135,10574970,9878049,9829974,9751058,9373149,9110174,8938448,8619474,8125298,7204970,6190235,6187076,6177771,3782435,3480538,3265471,3265470,2416754,1358795,7561057,9403839,8922468,17353931,15782160,10673541,10506149,10631289,3036867,3476959,12493773,19065266,19018776,18813831,18660501,18054915,18032696,17724034,17611393,17558306,17451431,17081983,17081065,17023546,16785209,16344560,16335952,15713750,15625115,15556631,20091333,16712791,19913121,20628086,10863037,10903140,15901826,16799092,18195088,19171406,19562367,19777189,19808856,19922591 6520 BE018712,BQ128156,BU556953,BX362778,CA453972,CB138799,CB151304,CN302816,CR591236,CR594426,CR596156,CR599471,CR599523,CR603627,CR603922,CR604303,CR604593,CR605685,CR606042,CR606258,CR607545,CR608039,CR611645,CR614278,CR615144,CR623482,CR623964,CR625473,CR625807,CR625870,J02769,J02939,J03569,AA594112,BX443653,DC395235,NR_037193,NM_001012661,NM_002394,NM_001012662,NM_001012663,NM_001012664,NM_001013251,AP001160,CH471076,M21904,AB018010,AF055031,AK025584,AK090758,AK094620,AK225304,AK304497,AK304685,AK308797,AK311592,AU143131,BC001061,BC003000 AAH03000,AAA51540,AAA52497,AAA35536,P08195,ACE87703,ACE87015,NP_001012679,NP_002385,NP_001012680,NP_001012681,NP_001012682,NP_001013269,EAW74118,EAW74119,EAW74120,EAW74121,EAW74122,EAW74123,AAA35489,BAA84649,BAG65305,BAG65456,AAH01061 Hs.502769 4F2|4F2HC|4T2HC|CD98|CD98HC|MDU1|NACAE 4F2 cell-surface antigen heavy chain|4F2 heavy chain antigen|CD98 heavy chain|antigen defined by monoclonal antibody 4F2, heavy chain|antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43|heavy chain|lymphocyte activation antigen 4F2 large subunit|monoclonal antibody 44D7|solute carrier family 3, member 2 protein-coding 733072 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq] 18646536,12873829,12865285,12857562,12730114,12477932,12406098,12376346,12161425,12123233,12091367,12091366,11925460,11897618,11783942,11774199,11518736,11431687,11256614,11230166,11076863,10882071,10828623,9373149,8125298,10747949,10693807,19150361,19066423,18820912,18782341,18680715,18586377,18177470,18160816,18160317,17997113,17847004,17490902,17486601,17475779,17383046,17276706,17135308,17042772,16885049,16648237,16381901,16351644,16344560,16330432,16280445,15956209,15942076,15935710,15897636,15894659,15831700,15727899,15692071,15514116,15489336,15489334,15466004,15338274,15075083,14768003,14757427,14702039,14636643,14636642,20230395,19759876,20691492,20655381,20587610,20739079,16274220,20688958,16169070,19234114,19589941,19610021,19709084,19787796,19846751,19937651,19958990,20007457,20460119 30061 AL136944,BC035893,BC037733,CR533564,CR598073,CR598458,CR606641,CR619136,DA806565,DQ065759,DQ065760,DQ065761,DQ065763,NG_009027,AC013439,AJ609539,AJ609540,CH471058,CQ977117,AF147322,AF171087,AF215636,AF226614,AF231121,AK002038,AK223236,AK292146,AK314827,NM_014585,DQ065764 CAB66878,AAH35893,AAH37733,CAG38595,AAY78556,AAY78557,AAY78558,AAY78560,Q4PNE3,Q4PNE6,Q53FP6,Q6FI62,Q9NP59,BAG37348,NP_055400,AAX93082,CAE81347,CAE81348,EAX10901,EAX10902,CAI45360,AAQ13603,AAF80986,AAF36697,AAF44330,BAA92049,BAD96956,BAF84835,Q9NUS1,CAL38155,ABM81806,ABM84960,AAY78561,Q4PNE2,Q4PNE4 Hs.643005 FPN1|HFE4|IREG1|MST079|MSTP079|MTP1|SLC11A3 OTTHUMP00000207310|ferroportin 1|ferroportin-1|iron regulated gene 1|iron-regulated transporter 1|putative ferroportin 1 variant IIIB|solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3|solute carrier family 39 (iron-regulated transporter), member 1|solute carrier family 40 member 1 protein-coding 1322838 SLC41A1 solute carrier family 41, member 1 20683486,18367447,15713785,14702039,12810078,12477932,19915576 254428 NM_173854,AC119673,CH471067,AJ514402,AK092123,AK093254,AK125075,AK128069,AK314732,AL831974,AL832001,AL832362,BC136303,BX641054,BX648979 NP_776253,EAW91582,EAW91583,CAD58404,BAG54134,BAG54625,CAH56217,CAH56211,CAH56213,AAI36304,CAE46028,CAH56135,Q8IVJ1 Hs.20274 MgtE solute carrier family 41 member 1 protein-coding 1316398 SLC41A2 solute carrier family 41, member 2 17207965,16344560,15809054,14702039,12810078,12477932,11230166 84102 NM_032148,AC089985,CH471054,AK027838,AL136828,AW016390,BC036734,BC106871,BC106872,DA050789 NP_115524,EAW97752,EAW97753,BAB55402,CAB66762,AAH36734,AAI06872,AAI06873,Q96JW4,ACE86974,ADQ32853 Hs.577463 DKFZp434K0427|MGC125330|MGC125331|SLC41A1-L1 OTTHUMP00000211172|SLC41A1-like 1|solute carrier family 41 member 2 protein-coding 1343810 SLC41A3 solute carrier family 41, member 3 1580863 15302935,14702039,12810078,12477932,10737800 54946 NM_001008486,NM_017836,NM_001008485,NM_001008487,NM_001164475,AC079848,AC092903,AC117422,CH471052,CQ834870,AI814125,AK000480,AK021925,AK022780,AK091671,AK093380,AK094051,AK128054,AK298070,AK307107,AL560923,AW614139,AW938624,BC009039,BC009444,BC028241,BC035753,BM547018,BQ777605,CD300027,CR594553,CR600398,CR603915,CR605224,CR617540,CR625923 NP_001008486,NP_060306,NP_001008485,NP_001008487,NP_001157947,EAW79374,EAW79375,EAW79376,EAW79377,CAH05650,BAA91192,BAB13938,BAB14241,BAC03717,BAG52701,BAH12718,AAH09039,AAH28241,Q96GZ6 Hs.573007 FLJ20473|SLC41A1-L2 OTTHUMP00000222518|SLC41A1-like 2|solute carrier family 41 member 3 protein-coding 1317883 SLC43A1 solute carrier family 43, member 1 SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM] 1580863 18195088,12930836,15489334,14702039,12477932,11956097,9722952,9255310,972295,8889549 8501 NM_003627,AP002893,CH471076,AB103033,AF045584,AK027732,BC001639,CR606379,AA040589,BM147085,BQ029981,NM_001198810 NP_003618,EAW73749,EAW73750,EAW73751,EAW73752,BAD00152,AAC33004,BAG51373,AAH01639,O75387,NP_001185739 Hs.591952 LAT3|PB39|POV1|R00504 L-type amino acid transporter 3|large neutral amino acids transporter small subunit 3|prostate cancer overexpressed gene 1 protein protein-coding 1350504 SLC43A2 solute carrier family 43, member 2 System L amino acid transporters, such as SLC43A2, mediate sodium-independent transport of bulky neutral amino acids across cell membranes (Bodoy et al., 2005 [PubMed 15659399]).[supplied by OMIM] 19913121,20628086,16303743,15659399,12477932,18195088,20379614 124935 NM_152346,AC130343,CH471108,AB120364,AF289592,AK074428,AK075068,AK075173,AK075196,BC019562,BC027923,BC071859,BK005642,CR625500,AK301127 NP_689559,EAW90601,EAW90602,EAW90603,EAW90604,EAW90605,EAW90606,EAW90607,BAD91091,AAL55776,BAC11383,BAC11450,BAC11464,AAH19562,AAH27923,AAH71859,DAA05676,Q8N370,Q8NBW0,Q8WUU1,BAH13415 Hs.160550 FLJ23848|LAT4|MGC34680 L-type amino acid transporter 4|amino acid transporter|large neutral amino acids transporter small subunit 4 protein-coding 1323779 SLC43A3 solute carrier family 43, member 3 16303743,12477932,11704567,7531438 29015 NM_017611,NM_199329,NM_014096,AP000781,CH471076,CQ834210,AB028927,AF118070,AK075552,AK290391,AK311394,AK311401,AK315839,AL157431,BC003163,BC064137,BG391025,CR457391,AK298028,AK300977 ACE87558,ACE86870,NP_060081,NP_955361,NP_054815,EAW73741,EAW73742,EAW73744,EAW73745,EAW73746,CAH05320,BAB82466,AAF22014,BAC11695,BAF83080,BAF98730,CAB75655,AAH03163,CAG33672,Q8NBI5,Q9UHU3,BAG60330,BAG62599 Hs.99962 DKFZp762A227|EEG1|FOAP-13|PRO1659|SEEEG-1 likely ortholog of mouse embryonic epithelial gene 1|solute carrier family 43 member 3 protein-coding 1352703 SLC44A1 solute carrier family 44, member 1 632580,1580863 10677542,19357133,16609143,16319125,15715662,15691711,15489334,15164053,14702039,12477932,11698453,20410607,19448620,19519661 632580 23446 BC049203,CD101684,AJ245620,AL161627,AL450265,AL590368,CH471105,AJ272365,AJ420812,AK000109,AK022549,AK124926,BC018213,NM_080546 AAH49203,Q8WWI5,NP_536856,CAB75541,CAI13069,CAI13070,CAI13071,CAI14395,CAI14396,CAI14397,CAH73434,CAH73435,CAH73436,EAW58995,EAW58996,EAW58997,EAW58998,EAW58999,CAC82175,CAD12764,BAG51089,BAG54114,AAH18213 Hs.573495 CD92|CDW92|CHTL1|CTL1|RP11-287A8.1 CD92 protein|CDW92 antigen|OTTHUMP00000021836|OTTHUMP00000021839|choline transporter-like protein 1 protein-coding 1601745 SLC44A2 solute carrier family 44, member 2 12477932,9110174,20665236,21048031,20410607,10677542,12761501,18029348,17926100,16344560,16303743,15715662,15489334,14973250,14702039,8619474,20037594,20040764 57153 NM_001145056,NM_020428,AC011475,AJ245621,CH471106,AF070636,AF258549,AK027519,AK075512,AK126550,AK294118,AK309801,AK314582,AL832517,AL832978,BC010617,BC020511,BC040556,BC042692,BI602883,CR625042,DA628435,DA673268,DA749803 NP_001138528,NP_065161,CAB75542,EAW84126,EAW84127,EAW84128,EAW84129,AAG23752,BAG51335,BAC11662,BAG54343,BAG57451,BAG37158,CAH56352,CAH56342,AAH10617,AAH40556,Q8IWA5,Q8WY97 Hs.534560 CTL2|DKFZp666A071|FLJ44586|PP1292 choline transporter-like protein 2 protein-coding 1602189 SLC44A3 solute carrier family 44, member 3 16710414,16344560,15715662,15489334,12975309,12477932,10677542,20379614 126969 AK303906,AK313574,AK316123,AY358659,BC033858,BC040448,BC053877,BX648225,CR600415,DA538278,DC311042,NM_001114106,NM_152369,AC093429,AL359554,CH471097,AK300193,AK301288,AK302381 BAG63698,BAG64836,BAH14494,AAQ89022,AAH33858,AAH53877,Q8N4M1,NP_001107578,NP_689582,CAC36091,EAW73030,EAW73031,EAW73032,EAW73033,EAW73034,EAW73035,EAW73036,EAW73037,EAW73038,BAG61966,BAG62846,ADR82679 Hs.483423 CTL3|MGC45474 choline transporter-like protein 3|solute carrier family, member 3 protein-coding 1349303 SLC44A4 solute carrier family 44, member 4 632580 16344560,15715662,15489334,14702039,14656967,14574404,12975309,12477932,12067718,10677542,9373149,8125298,19448619,19851445,20466734,20526339,20421499 632580 80736 NM_025257,AF134726,AL662834,AL671762,AL844853,BA000025,BX005460,CH471081,CR388202,AI560195,AK027397,AK222998,AK223013,AK300550,AK301596,AK314673,AL833009,AY358457,BC014659,DA924720,DC300771,AI956094,CR759784,CR936237,DC392935,NG_023058,NM_001178044,NM_001178045 NP_079533,AAD21813,CAI17744,CAI18223,CAI41851,BAB63296,CAM26148,EAX03538,EAX03539,CAQ09513,BAB55083,BAD96718,BAG62256,BAG63084,CAH56275,AAQ88822,AAH14659,Q53GD3,CAQ09154,CAQ09306,NP_001171515,NP_001171516 Hs.335355 C6orf29|CTL4|FLJ14491|NG22 OTTHUMP00000029183|choline transporter-like protein 4|chromosome 6 open reading frame 29 protein-coding 1604721 SLC44A5 solute carrier family 44, member 5 16344560,15715662,15489334,14702039,12477932,21116278,20379614 204962 NM_001130058,AC093156,AC107627,AC118550,AC118990,AL096829,CH471059,NM_152697,CS223377,AK091400,AK093170,AK128063,BC028743,BC034580,BC051740,DA534406,DA778954,DB450780,DC374918,AK296924,AK296941,AK299573 NP_689910,NP_001123530,EAX06402,EAX06403,CAJ46928,BAC03655,BAC04084,AAH28743,AAH34580,AAH51740,Q8NCS7,ABM83384,ABM86596,BAH12456,BAH12459,BAH13070 Hs.654821 CTL5|FLJ34081|MGC34032 choline transporter-like protein 5 protein-coding 731828 SLC45A1 solute carrier family 45, member 1 1580863 16710414,10729226 50651 NM_001080397,AL356072,AF118274,CH471130 NP_001073866,CAH70515,AAD27583,Q9Y2W3,AAI56141,AAI56981,EAW71597 Hs.463036 DNB5|FLJ26758|KIAA0458 DNb-5|OTTHUMP00000000552|PAST-A|deleted in neuroblastoma 5 protein|proton-associated sugar transporter A protein-coding 1315452 SLC45A2 solute carrier family 45, member 2 This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17207965,19384953,19340012,19060277,18986462,18806926,18683857,18483556,18463683,18326704,17999355,17768386,17516931,17358008,17081065,17044855,16868655,16847698,15714523,15656822,15489334,15455243,14961451,14722913,12477932,11916009,11574907,11479596,11221837,20457063,18650849,18563784,20381161,19578363,19710684,19865097,19916045,19913121,20585627,20628086 51151 NM_016180,NM_001012509,NG_011691,AC139777,AC139783,CH471118,AF172849,BC003597,BC064405,BQ677785,BU166522 ADQ32605,NP_057264,NP_001012527,EAX10811,EAX10812,EAX10813,EAX10814,AAD51812,AAH03597,AAH64405,Q6P2P0,Q9UMX9 Hs.278962 1A1|AIM1|MATP|SHEP5 OTTHUMP00000221214|OTTHUMP00000221215|melanoma antigen AIM1|membrane associated transporter|membrane-associated transporter protein|protein AIM-1|underwhite protein-coding 1346444 SLC45A3 solute carrier family 45, member 3 61503,1580863 19136943,18193184,18172298,17721190,16344560,15489334,14997204,12477932,11245466,15048720,15176054,19649210,19915576,20118910 61503 85414 BC050416,DA759616,NM_033102,AC096533,CH471067,AK290364,AK313479,AL832933,AY033593 AAK54386,AAH50416,Q658X7,Q96JT2,NP_149093,EAW91575,EAW91576,EAW91577,BAF83053,BAG36263,CAH56282 Hs.278695 IPCA-2|IPCA-6|IPCA-8|IPCA6|PCANAP2|PCANAP6|PCANAP8|PRST prostate cancer associated protein 2|prostate cancer associated protein 6|prostate cancer associated protein 8|prostate cancer-associated gene 2|prostate cancer-associated gene 6|prostate cancer-associated gene 8|prostate cancer-associated protein 6|prostein|solute carrier family 45 member 3 protein-coding 1607016 SLC45A4 solute carrier family 45, member 4 12477932,10574461 57210 NM_001080431,CH471060,AB032952,AK128212,AL137490,AL713711,BC007262,BC033223,BC090891,BC157840,BC171836,AC011676 NP_001073900,EAW92222,EAW92224,BAA86440,BAC87328,AAH33223,AAH90891,AAI57841,Q5BKX6,Q7L180,AAI60000 Hs.372492 KIAA1126 solute carrier family 45 member 4 protein-coding 1606750 SLC46A1 solute carrier family 46 (folate transporter), member 1 This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a transmembrane heme transporter in duodenal enterocytes and, potentially, in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene cause the autosomal recessive hereditary folate malabsorption (HFM) disease. HFM is characterized by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and recurrent infections. [provided by RefSeq] 19762432,20005757,20036773,20225891,17129779,17475902,19643086,19508863,19403800,19389703,19371039,19176287,19074442,18842806,18817749,18718264,18650265,18003745,17947394,17446347,17335806,17156779,16143108,15489334,14702039,12477932,20686069,20724482,19913121,20628086 113235 NG_013306,DQ496103,AK054669,AK074161,AK097194,AK295883,AL832613,BC010691,BC022100,BC065365,NM_080669,AC002094,AC015917,CH471159,CQ834412 CAH05421,ABF47092,BAB70789,BAB84987,BAG58679,CAD89945,AAH10691,Q96NT5,NP_542400,EAW51085,EAW51086,EAW51087,EAW51088,EAW51089 Hs.446689 FLJ39875|HCP1|MGC9564|PCFT G21|PCFT/HCP1|heme carrier protein 1|proton-coupled folate transporter|solute carrier family 46 member 1 protein-coding 1321413 SLC46A2 solute carrier family 46, member 2 10706709,12826694,12477932,17207965,10978518,18392855,16344560,15489334,14702039 57864 NM_033051,AL139041,CH878453,AF242557,AK055571,AK314414,BC048285,DA593062 ADQ33085,NP_149040,CAI95196,EAW50550,EAW50551,EAW50552,AAK28343,BAB70960,BAG37035,AAH48285,Q9BY10 Hs.512668 Ly110|TSCOT thymic stromal co-transporter|thymic stromal cotransporter homolog protein-coding 1606669 SLC46A3 solute carrier family 46, member 3 19284880,16344560,14702039,12477932,8889548,20708005 283537 NM_001135919,AL359454,CH471075,AF315594,AK093932,AK098426,AK124604,BC036662,BC060850,BC068556,NM_181785,BX537565,CB851220,CD237026,CR611527,DA496545,DB073710 NP_861450,NP_001129391,CAI17158,CAM24029,EAX08436,EAX08437,EAX08438,AAL18405,BAG52789,BAC85896,AAH36662,AAH60850,AAH68556,CAD97783,Q7Z3Q1 Hs.117167 FKSG16|FLJ42613|RP11-97E23.2 solute carrier family 46 member 3 protein-coding 1605371 SLC47A1 solute carrier family 47, member 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq] 20047987,19228809,19172157,18305230,17855482,17509534,17495125,17047166,16996621,16928787,16330770,14702039,12477932,11997338,9373149,8125298,19158817,19536068,19745787,19898263,20016398,20053795,20067714,20682687 55244 NM_018242,AC025627,CH471212,AK001709,AK222625,AK225360,AK293196,AK298254,AK301854,AK302620,AK304647,AK310270,BC010661,BC050592,BC058882 NP_060712,EAW50893,EAW50894,EAW50895,BAA91852,BAD96345,BAG56736,BAG60519,BAG63296,BAG63865,BAG65424,AAH10661,AAH50592,AAH58882,Q96FL8 Hs.232054 FLJ10847|MATE1|MGC64822 MATE-1|OTTHUMP00000065793|hMATE-1|multidrug and toxin extrusion 1|multidrug and toxin extrusion protein 1 protein-coding 1603576 SLC47A2 solute carrier family 47, member 2 This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 20047987,17509534,16996621,16807400,16330770,14702039,12477932,11181995,8889548,19158817,20016398,20067714,20379614 146802 NM_152908,NM_001099646,AC005722,CH471212,AB250364,AB250701,AK055758,AK096080,AK123589,AK307647,AK310218,BC035288,BC050578,BC062614,BG432484,BM924669,BM930596,BX648861 NP_690872,NP_001093116,EAW50901,EAW50902,EAW50903,EAW50904,EAW50905,EAW50906,EAW50907,BAF36847,BAF37007,AAH35288,AAH50578,CAH56154,Q86VL8 Hs.126830 FLJ31196|MATE2|MATE2-B|MATE2-K|MATE2K H+/organic cation antiporter|MATE-2|OTTHUMP00000065791|hMATE-2|kidney-specific H(+)/organic cation antiporter|multidrug and toxin extrusion 2|multidrug and toxin extrusion protein 2 protein-coding 1604345 SLC48A1 solute carrier family 48 (heme transporter), member 1 19913121,20628086,18418376,12477932,19875448 55652 NM_017842,AC004466,CH471111,AK000496,AK025856,AK294075,BC002759,BC011823,BC026344,BC065033,BI548780,CR618506 NP_060312,EAW57950,EAW57951,BAA91205,BAG57417,AAH02759,AAH26344,AAH65033,Q6P1K1 Hs.438867 FLJ20489|HRG-1|HRG1|hHRG-1 heme transporter HRG1|heme-responsive gene 1 protein homolog|solute carrier family 48 member 1 protein-coding 737027 SLC4A1 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq] 1599007,1580863 11208611,11842009,12898519,19330352,19564639,19625994,19722686,19846781,19907019,20005958,20007969,20015879,20035734,20062076,20068363,20100494,20132789,20424473,7530501,7479704,15500919,15489334,15478802,15310273,15252044,15211439,15182940,15121092,15087282,15067510,15039022,14769040,14736961,14695625,14654610,14640982,14604989,14570914,12938018,12933803,12813056,12578372,12531814,12482869,12482865,12477932,12466935,12446737,12227829,12175337,12149479,12101015,12087557,12070037,11994299,11934690,11876646,11844997,11831035,11756190,11380459,11208088,11155072,11063570,11049968,10942416,10942405,10926824,10820026,10364201,9973643,9854053,9845551,9774471,9765907,9734643,9709782,9709005,9600966,9454576,9422766,9312167,9233560,9207478,9191821,9012689,8960772,8943874,8808627,8704215,8693505,8640229,8578746,8567957,8547122,8527430,8508760,8471774,8434259,8343110,8282779,8206915,8168533,8045253,7949112,7919393,7902326,7812009,7774942,4027230,379653,10950304,14734552,8841202,12539048,16669616,19438409,19294450,19289107,19238475,19229254,19071041,19029645,18979639,18945214,18778682,18714043,18524859,18358003,18266205,18160114,17971901,17941824,17854772,17652430,17554061,17553790,17533027,17453414,17408468,17361021,17317744,17205967,17137217,17128827,17027918,16960783,16914912,16849697,16762928,16718373,16700540,16420521,16411779,16392641,16252102,16229454,16227998,16118313,16107207,16013436,15907563,15847654,15813913,15811326,15653731,6615451,6449514,6345535,3478298,3372523,3223947,2968981,2790053,2594752,2575590,2065070,1998697,1885574,1824272,1737855,1722314,1678289,1639060,1538405,1527044,1520883,1471983,1378323,1352774,701248,695442,7626035,11606574,8227202,20628050,20691413,20561513,21039340,20799361,20151848,7506871,20576809,19913121,20346715,20628086,20825599,20828148,20833140,20932077 1599007 6521 NM_000342,NG_007498,AC003043,AC003102,CH471178,DQ072115,L35930,M16978,M16979,AM919470,BC096106,BC096107,BC099628,BC099629,BC101570,BC101574,CR599802,DQ419529,M27819,S68680,X12609,AB526447 NP_000333,EAW51614,AAY57324,AAA51670,AAA51671,CAP46016,AAH96106,AAH96107,AAH99628,AAH99629,AAI01571,AAI01575,ABD74692,AAA35514,AAC60608,CAA31128,P02730,P78488,Q6LDU9,BAJ22989 Hs.443948 AE1|BND3|CD233|DI|EMPB3|EPB3|FR|MGC116750|MGC116753|MGC126619|MGC126623|RTA1A|SW|WD|WD1|WR AE 1|Froese blood group|Swann blood group|Waldner blood group|Wright blood group|anion exchange protein 1|anion exchanger 1|band 3 anion transport protein|erythrocyte membrane protein band 3|erythroid anion exchange protein|solute carrier family 4 member 1|solute carrier family 4, anion exchanger, number 1|solute carrier family 4, member 1 protein-coding 1348028 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 SLC4A10 is an Na(+)-dependent Cl-/HCO3- exchanger (Jacobs et al., 2008 [PubMed 18165320]).[supplied by OMIM] 20101282,20331378,20379614,18413482,18319254,18165320,15815621,12477932,10965143,10993873 57282 DC337667,NG_021401,NM_001178015,NM_001178016,NM_022058,AC008063,AC062022,AC092841,AC096654,CH471058,AB040457,AK293793,AK294767,AK308529,AK309839,AL713680,AL832525,AY376402,BC036415,BC038298,BC051190,BC136269,BC143714,CA841736 NP_001171486,NP_001171487,NP_071341,AAX93124,AAX88962,EAX11363,EAX11364,BAB18301,BAH11596,BAH11876,CAD28484,CAD38630,AAQ83632,AAI36270,AAI43715,Q53SB3,Q6U841 Hs.333958 NBCn2|NCBE OTTHUMP00000204674|OTTHUMP00000207305|OTTHUMP00000207306|OTTHUMP00000207307|OTTHUMP00000207308|sodium-driven chloride bicarbonate exchanger|solute carrier family 4, sodium bicarbonate cotransporter-like, member 10 protein-coding 1320941 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 1580863 20848555,10209448,15525507,18474783,18363173,18024964,17679935,17667634,17397048,17262014,17220209,16825429,16767101,14702039,12654361,12477932,11836359,11780052,11302728,10512674,8889548,19369245,20118786,20144242 83959 AL109976,CH471133,AF336127,AK075303,AK091157,AK296508,AK296760,BC110540,BC110541,NM_032034,BM666654,CA312226,DC341640,NG_017072,NM_001174089,NM_001174090 NP_114423,CAB90170,CAD55941,CAD55942,EAX10535,EAX10536,EAX10537,EAX10538,EAX10539,AAK16734,BAC11536,BAG59140,BAG59341,AAI10541,AAI10542,Q8NBS3,NP_001167560,NP_001167561 Hs.105607 BTR1|CDPD|CDPD1|CHED2|MGC126418|MGC126419|NABC1|dJ794I6.2 bicarbonate transporter related protein 1|sodium bicarbonate transporter-like protein 11|sodium-coupled borate cotransporter 1|solute carrier family 4, sodium bicarbonate transporter-like, member 11 protein-coding 1316058 SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein 1580863 17081983,15815621,15764369,15489334,15302935,15252450,14702039,12800979,12477932,11934690,11772400,11329013,9422766,17553790 22950 NM_018158,AC074091,CH471053,AK001486,AK098323,AK300958,AY028435,AY117688,BC098302,BC098358,BC099711,BC099739,BG220419,DQ786283 NP_060628,AAX93203,EAX00554,EAX00555,BAA91718,BAG62586,AAK29177,AAN12269,AAH98302,AAH98358,AAH99711,AAH99739,Q9BWU0 Hs.306000 FLJ10624|FLJ41004|HLC3|MGC120646|MGC120648 HLC-3|human lung cancer oncogene 3 protein|kanadaptin|kidney anion exchanger adapter protein|kidney anion exchanger adaptor protein|lung cancer oncogene 3|solute carrier family 4 (anion exchanger), member 1, adapter protein|solute carrier family 4 anion exchanger member 1 adapter protein protein-coding 733302 SLC4A2 solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) 1580863 1562608,3015590,19491853,18930330,18676680,18438347,17652430,17058451,16344560,15489334,14575719,12477932,12225956,11852051,11842009,11248201,11208611,11156694,10820026,10623603,10577919,10491633,10491290,10452823,9587054,9477304,9027488,8889548,8434259,7984058,7626035,3020980,2968981,19913121,20180022,20628086,19170196,19224338,19625176,19692168,20379614,20424473 6522 AC010973,CH471173,DQ149844,U76669,AB209158,AK295767,AK312699,BC004893,BC009386,BC009434,BC010069,BC028601,BM680391,CR594021,CR602751,CV807529,DA103528,DA699325,U62531,X03918,NM_003040,AK296065,BC128111,NM_001199692,NM_001199693,NM_001199694,X62137 NP_003031,EAW54044,EAW54045,EAW54046,EAW54047,EAW54048,AAZ38724,AAF19583,AAF19584,AAF23240,BAD92395,BAG58592,BAG35577,AAH04893,AAH09386,AAH09434,AAH10069,AAH28601,AAC50964,CAA27556,BAH12249,NP_001186621,NP_001186622,NP_001186623,CAA44067,P04920,Q59GF1,Q6PJY3,Q8TAG3,Q99654,Q9UEY4,Q9UEY5,Q9UEY6,ABM87511,ABW03897 Hs.647069 AE2|BND3L|EPB3L1|FLJ59028|HKB3|NBND3 AE 2|OTTHUMP00000212942|anion exchange protein 2|anion exchanger 2 type a|anion exchanger 2 type b1|anion exchanger 2 type b2|non-erythroid band 3-like protein|solute carrier family 4 member 2|solute carrier family 4, member 2 protein-coding 733142 SLC4A3 solute carrier family 4, anion exchanger, member 3 1580863 8001971,2686841,8227202,7923606,12477932,12027221,11994299,11875273,11875255,11842009,11739292,11606574,11248201,11208611,10732805,10362722,19605733,19854014 6508 NM_005070,NM_201574,AC009955,CH471063,AK226122,AK289974,AK299109,AK299595,AK309025,AK314083,AY142112,BC136384,BC146656,BC171760,L27213,U05596,X70797,X87211 NP_005061,NP_963868,EAW70777,EAW70778,BAF82663,BAG61165,BAG61527,AAN34939,AAI36385,AAI46657,AAI71760,AAB05850,AAA50748,CAA50067,CAA60670,P48751,Q13717,Q99416 Hs.1176 AE3|SLC2C AE 3|Anion exchanger 3, neuronal|CAE3/BAE3|anion exchange protein 3|cardiac/brain band 3-like protein|neuronal band 3-like protein|solute carrier family 4 member 3|solute carrier family 4, member 3 protein-coding 68964 SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4 This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 61794,1600028,1600034 20936779,15273250,15218065,15123668,14702039,14567693,14559244,12907161,9651366,9235899,19336397,19158093,19102757,18614622,18441326,18223262,17881426,17661077,17182531,16857349,16707554,16687407,16622177,16344560,16159892,15930088,15817634,15713912,15563508,15489334,15471865,15366422,15329059,12730338,12534288,12477932,12411514,11744745,11743927,10652014,10600945,10545938,10099707,10069984,8358434,19913121,20628086,19294449,19662435,20197274,20837482 61794,1600028,1600034 8671 NM_001098484,NM_001134742,NM_003759,AC019089,AC079230,AC096713,AC110783,AC112226,CH471057,AA349118,AB470072,AF004813,AF007216,AF011390,AF053753,AF053754,AF069510,AF157492,AF310248,AK090968,AK226164,AK307594,AK308038,AV724814,AV726720,BC030977,BC127908,BE855478,CR749482,DA343084,DA378692,DA635432,EF531618,NG_012653 NP_001091954,NP_001128214,NP_003750,EAX05639,EAX05640,EAX05641,EAX05642,EAX05643,EAX05644,BAH58226,AAD31379,AAC51645,AAC39840,AAF21718,AAF21719,AAD42020,AAF80343,AAG47773,AAH30977,CAH18310,ABQ43327,Q68DB0,Q9Y6R1,Q9Y6R3 Hs.5462 DKFZp781H1314|HNBC1|KNBC|NBC1|NBC2|SLC4A5|hhNMC|pNBC Na(+)/HCO3(-) cotransporter|electrogenic sodium bicarbonate cotransporter 1|kNBC1|sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)|solute carrier family 4 member 4|solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type|solute carrier family 4, sodium bicarbonate cotransporter, member 5 protein-coding 731047 SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 1580863 19384345,16365189,12477932,12388414,12063394,11788353,11562789,11087115,10978526,19487301 57835 NM_133478,NM_021196,AC006030,AC073263,AC103915,CH471053,AB209752,AF243499,AF293337,AF293338,AF452248,AF453528,BC109221,DB455137 NP_597812,NP_067019,AAF03523,AAX93062,AAY14938,EAW99688,EAW99689,EAW99690,EAW99691,EAW99692,EAW99693,BAD92989,AAK26741,AAK97072,AAK97073,AAL48291,AAL50802,AAI09222,Q53QY5,Q53S35,Q9BY07,Q9UDR3 Hs.594099 MGC129662|NBC4 NBCe2|OTTHUMP00000115292|OTTHUMP00000115294|OTTHUMP00000200878|OTTHUMP00000200879|electrogenic sodium bicarbonate cotransporter 4|solute carrier family 4 member 5 protein-coding 730989 SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 1580863 20542029,20095854,20145138,17353931,10347222,19330027,17624982,16301216,15324660,15144186,14736710,14578046,12403779,10600945,10198178,9610397,20453838 9497 GU354307,GU354308,GU354309,GU354310,AK310865,AL389947,AL833589,CR627428,EU499349,EU934246,EU934247,EU934248,EU934249,EU934250,FJ178574,FJ178575,FJ178576,AK309734,NM_003615,AC099535,CH471055,AB012130,AF047033,AF053755,AF089726 ADC32649,ADC32650,ADC32651,ADC32652,CAH10515,ACB47400,ACH61958,ACH61959,ACH61960,ACH61961,ACH61962,ACI24740,ACI24741,ACI24742,Q9Y6M7,AAI56214,AAI72463,NP_003606,EAW64381,EAW64382,EAW64383,EAW64384,BAA25898,AAD38322,AAF21720,AAG16773 Hs.250072 DKFZp686H168|NBC2|NBC3|SBC2|SLC4A6 OTTHUMP00000208473|OTTHUMP00000208474|OTTHUMP00000208476|OTTHUMP00000208477|OTTHUMP00000208478|OTTHUMP00000208479|OTTHUMP00000208483|OTTHUMP00000208484|OTTHUMP00000208486|bicarbonate transporter|sodium bicarbonate cotransporter 2|sodium bicarbonate cotransporter 2b|sodium bicarbonate cotransporter 3|solute carrier family 4 member 7 protein-coding 1350896 SLC4A7OS solute carrier family 4, sodium bicarbonate cotransporter, member 7 opposite strand 404197 1346907 SLC4A8 solute carrier family 4, sodium bicarbonate cotransporter, member 8 1580863 18577713,16344560,14736710,14702039,12477932,12444018,12403779,12121896,12027220,11133997,10362779,10347222,9872452 9498 NM_001039960,NM_004858,AC025097,AC107031,CH471111,AB018282,AF069512,DA521806,AF107099,AK093005,AK093357,AK128321,AK295315,AK299545,AK310017,AL831915,BC025994,DQ063579,DQ975204,DQ996398,DQ996537 NP_001035049,NP_004849,EAW58191,EAW58192,EAW58193,BAA34459,AAC82380,AAD52981,BAG58292,BAG61491,CAD38576,AAH25994,AAY79176,ABJ09587,ABJ91577,ABJ91576,Q2Y0W8 Hs.370636 DKFZp761B2318|FLJ46462|NBC3|NDCBE Na+-driven Cl-HCO3 exchanger|electroneutral Na(+)-driven Cl-HCO3 exchanger|electroneutral sodium bicarbonate exchanger 1|k-NBC3|solute carrier family 4 member 8 protein-coding 730837 SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 1580863 12477932,11305939,11302728 83697 NM_031467,AC008438,CH471062,AB032762,AF313465,AF332961,AF336237,BC136262,BC143602,CB046220 NP_113655,EAW62061,EAW62062,EAW62063,EAW62064,EAW62065,EAW62066,EAW62067,EAW62068,BAA93010,AAK28832,AAK69625,AAK16733,AAI36263,AAI43603,Q96Q91 Hs.550313 AE4 AE 4|OTTHUMP00000223645|OTTHUMP00000223646|OTTHUMP00000223647|anion exchange protein 4|anion exchanger 4|sodium bicarbonate cotransporter 5|solute carrier family 4 member 9|solute carrier family 4, sodium bicarbonate cotransporter-like, member 9 protein-coding 732146 SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 Glucose transporters are integral membrane proteins that mediate the transport of glucose and structurally-related substances across cellular membranes. Two families of glucose transporter have been identified: the facilitated-diffusion glucose transporter family (GLUT family), also known as 'uniporters,' and the sodium-dependent glucose transporter family (SGLT family), also known as 'cotransporters' or 'symporters' (Wright et al., 1994 [PubMed 7823022]). The SLC5A1 gene encodes a protein that is involved in the active transport of glucose and galactose into eukaryotic and some prokaryotic cells.[supplied by OMIM] 1580863,1626159,1625539,1624257 12885248,19509029,20338844,20379614,20424473,16327313,15090548,20800603,20965718,20334581,16344560,7759499,2008213,8563765,18455122,19115253,18853313,18713983,18481997,18471079,17983207,17903058,17686765,17567994,17505558,17495124,17222499,17153597,17130520,16860318,16788146,16446504,16322051,16300400,16260652,15904891,15885653,15596535,15476411,15461802,15166308,14724758,12773314,12543931,12488461,12477932,12139397,12082088,11406349,11131365,10591208,10036327,8889548,8567640,8244393,8195156,7823022,2490366 1626159,1625539,1624257 6523 NG_017045,NR_033411,NM_000343,AL022321,CH471095,L29339,Z74021,Z80998,Z83839,Z83849,AI078794,AK297665,AK312948,AK316184,BC139839,BM980416,CR456579,DA429018,DA562836,DQ656053,M24847 NP_000334,CAI19810,EAW60006,AAB59448,CAI18756,CAI18759,CAB06087,CAI23589,BAH12645,BAG35789,BAH14555,AAI39840,CAG30465,AAA60320,P13866,AAI39839,AAI41436,AAI46581,CAK54607,CAK54906 Hs.1964 D22S675|NAGT|SGLT1 Na+/glucose cotransporter 1|high affinity sodium-glucose cotransporter|sodium/glucose cotransporter 1|solute carrier family 5, member 1 protein-coding 1313138 SLC5A10 solute carrier family 5 (sodium/glucose cotransporter), member 10 1580863 19913121,20628086,15342556,12477932 125206 NM_152351,NM_001042450,AC003957,AC090286,CH471276,AK057946,BC034380,BC039868,BC062617,BP332461,DR003789,AK298345 NP_689564,NP_001035915,EAW50439,EAW50440,EAW50441,BAB71619,AAH34380,AAH39868,AAH62617,A0PJK1,BAG60592 Hs.462418 FLJ25217|SGLT5 Na(+)/glucose cotransporter 5|OTTHUMP00000065731|OTTHUMP00000065732|sodium/glucose cotransporter 5|solute carrier family 5 member 10 protein-coding 1347645 SLC5A11 solute carrier family 5 (sodium/glucose cotransporter), member 11 Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM] 1580863 18069935,12477932,12133831,12039040,20379614,20800603 115584 NM_052944,AC008731,CH471145,AF292385,AJ305237,AK125267,AY044906,BC049385,BC057780,U41898,AK295427,AK298373,AK303691 NP_443176,EAW55781,AAK97053,CAC83728,BAC86105,AAK97784,AAH49385,AAH57780,AAB61733,O15280,Q05BF1,Q8WWX8,BAH12065,BAH12770,BAH14019 Hs.164118 KST1|RKST1|SGLT6|SMIT2 Na(+)/myo-inositol cotransporter 2|homolog of rabbit KST1|na+/myo-inositol cotransporter 2|putative sodium-coupled cotransporter RKST1|sodium-dependent glucose cotransporter|sodium/glucose cotransporter KST1|sodium/myo-inositol cotransporter 2|solute carrier family 5 member 11 protein-coding 1345162 SLC5A12 solute carrier family 5 (sodium/glucose cotransporter), member 12 Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM] 737633,1580863 17692818,15146197,12477932 737633 159963 NM_178498,AC083755,CH471064,AL049270,AW614338,AY299482,BC029048,BC041454,BC049207,BM924715,CN370367,CR747563 NP_848593,EAW68293,EAW68294,EAW68295,AAQ73572,AAH41454,AAH49207,Q1EHB4,Q8IUS7 Hs.148907 DKFZp564G223|MGC52019|SMCT2 electroneutral sodium monocarboxylate cotransporter|low-affinity sodium-lactate cotransporter|sodium-coupled monocarboxylate transporter 2|sodium-iodide related cotransporter|solute carrier family 5 member 12 protein-coding 731434 SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 1626159,1625539,1599049,1599050,737731,1580863 12477932,20965718,8244402,18622023,17505558,15610225,14702039,14614622,14569097,12436245,1415574 1626159,1625539,1599049,1599050,737731 6524 NG_012892,NM_003041,AC026471,AF307340,CH471192,AI222550,AK054830,BC131542,M95549 NP_003032,AAL66409,EAW52123,EAW52124,EAW52125,AAI31543,AAA36608,P31639,Q8WY15 Hs.709195 SGLT2 Na(+)/glucose cotransporter 2|low affinity na-dependent glucose transporter (sglt2)|low affinity sodium-glucose cotransporter|sodium/glucose cotransporter 2|solute carrier family 5 (sodium/glucose transporter), member 2|solute carrier family 5 member 2 protein-coding 734339 SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 1580863 1372904,19198609,19032932,17178845,16344560,15342556,14702039,10830953,9685419,9612208,9441750,8646889,7789985,20738937,20971364 6526 NM_006933,AF027153,AP000315,AP000467,L38500,AB074183,AK024896,AK026169,AK055913,AK092248,AL833562,BP290336,DA723865,DB080492,X83558 NP_008864,AAC39548,AAC41747,P53794,AAI40350,AAI46537 Hs.302742 SMIT|SMIT2 Na(+)/myo-inositol cotransporter|human solute carrier family 5, member 3, Sodium/myo-inositol cotransporter|sodium/myo-inositol cotransporter|sodium/myo-inositol cotransporter 1|solute carrier family 5 (inositol transporter), member 3|solute carrier family 5 (inositol transporters), member 3|solute carrier family 5 member 3 protein-coding 1315814 SLC5A4 solute carrier family 5 (low affinity glucose cotransporter), member 4 1580863 18198291,17705872,17110502,16319503,13130073,12354616,10591208,9501190 6527 GQ292716,NM_014227,AL008723,CH471095,AJ133127,U41897 ACT67432,NP_055042,CAB51758,EAW60017,EAW60018,CAB81772,AAB61732,Q9NY91,AAI46452,AAI53070 Hs.130101 DJ90G24.4|SAAT1|SGLT3 Na(+)/glucose cotransporter 3|low affinity sodium glucose cotransporter|low affinity sodium-glucose cotransporter|sodium transporter|sodium/glucose cotransporter 3|solute carrier family 5 (neutral amino acid transporters, system A), member 4|solute carrier family 5 member 4 protein-coding 731751 SLC5A5 solute carrier family 5 (sodium iodide symporter), member 5 The sodium-iodide symporter (NIS, or SLC5A5) is a key plasma membrane protein that mediates active I- uptake in thyroid, lactating breast, and other tissues with an electrogenic stoichiometry of 2 Na+ per I-. In thyroid, NIS-mediated I- uptake is the first step in the biosynthesis of iodine-containing thyroid hormones (Dohan et al., 2007 [PubMed 18077370]).[supplied by OMIM] 1624273,1580863 9388506,19241193,19196800,19029227,18708479,18628528,18509003,18339708,18202121,18187871,18077370,17938324,17726079,17696829,17408651,17297475,17214887,17164311,16990649,16982034,16954431,16391203,16335670,16264365,15976004,15968416,15919754,15562032,15522214,15489334,15472226,15340050,15215159,15068624,15062579,15062578,15057824,15009910,14630715,20620544,12720543,12679487,12602914,12588808,12477932,12475396,12351692,12161518,12039073,12021185,11575851,11231356,11170832,10893432,10487695,9814502,9745458,9709973,9657379,9492156,9486973,9398697,9329364,9231811,9171822,8806637,3998954,3451231,2249482,1410443,18500672,19124451,19618116,19706688,19916865,20153805 1624273 6528 NM_000453,AC005796,AF059566,CH471106,AF260700,BC105047,BC105049,BX648217,D87920,U66088,NG_012930 NP_000444,AAC62827,AAC14697,EAW84643,AAF70339,AAI05048,AAI05050,BAA24835,AAB17378,Q92911,Q9UEU3 Hs.584804 NIS|TDH1 Na(+)/I(-) cotransporter|Na(+)/I(-) symporter|Na(+)/I(-)-symporter|sodium/iodide cotransporter|solute carrier family 5 member 5|solute carrier family 5, member 5 protein-coding 69654 SLC5A6 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 68917,1580863 9516450,19211916,17904341,17135299,16959947,16749865,16344560,16303743,15561972,14702039,12646417,12477932,11955628,11834205,10334869,10329687,19898482 68917 8884 NR_028323,AC013403,AF116241,CH471053,AF069307,AF081571,AF288781,AF442149,AF442150,AK027855,AK075078,AK293162,AK314545,NM_021095,AL096737,BC012806,BC015631,BG025980,BI832199,BQ651664,DA958474,DB452476,N30242 BAG37132,NP_066918,AAX93172,AAD37502,EAX00620,EAX00621,EAX00622,EAX00623,AAD31727,AAD37481,AAG00587,AAL84706,AAL84707,BAG51384,BAC11387,BAG56706,CAH56408,AAH12806,AAH15631,Q659F8,Q8NC18,Q9HD19,Q9Y289,ABW03592 Hs.435735,Hs.725564 SMVT Na(+)-dependent multivitamin transporter|Na+-dependent multivitamin transporter|OTTHUMP00000201025|sodium-dependent multivitamin transporter|solute carrier family 5 member 6 protein-coding 1348839 SLC5A7 solute carrier family 5 (choline transporter), member 7 Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000 [PubMed 11027560]).[supplied by OMIM] 1580863 12237312,11068039,11027560,17005849,16876130,15815621,15784779,15489334,15450352,15090548,14623932,12969261,12628461,12477932,12406342,20379614,20490865 60482 NM_021815,AC009963,AJ308378,CH471182,AB043997,AB084377,AF276871,AJ401466,AK315280,BC111524,BC111525,AK300801 NP_068587,AAY14927,CAC88115,EAW53893,BAB18161,AAG25940,CAC03717,BAG37689,AAI11525,AAI11526,Q2T9H3,Q9GZV3,BAG62459 Hs.287758 CHT|CHT1|MGC126299|MGC126300|hCHT hemicholinium-3-sensitive choline transporter|high affinity choline transporter 1|high affinity choline transporter; hemicholinium-3-sensitive choline transporter|solute carrier family 5 member 7 protein-coding 1352176 SLC5A8 solute carrier family 5 (iodide transporter), member 8 SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM] 20671196,15867356,18661192,18566324,18559491,18437076,18037591,17692818,17526579,17245649,16873376,16858683,16670197,16375929,15322102,15001644,14966140,12829793,12477932,12107270,19730683,19864324,20029986,20082847,20211600,20403997,20965718 160728 AC225709,NM_145913,AC079953,AF536217,CH471054,AF536216,AK075263,AK313788,AY081220,BC110492 NP_666018,AAP46194,EAW97648,EAW97649,EAW97650,EAW97651,AAP46193,BAG36525,AAL88746,AAI10493,Q8N695 Hs.444536 AIT|MGC125354|SMCT|SMCT1 apical iodide transporter|electrogenic sodium monocarboxylate cotransporter|sodium iodide-related cotransporter|sodium-coupled monocarboxylate transporter 1|solute carrier family 5 member 8 protein-coding 1322816 SLC5A9 solute carrier family 5 (sodium/glucose cotransporter), member 9 20800603,15607332,12477932 200010 BX648549,NM_001011547,NM_001135181,AL109659,CH471059,AI767388,AK131200,AK296133,AK311580,BC025411,BC032417,BC048332,BC104857,BC104863,BC143570,BC143572,BC143587 NP_001011547,NP_001128653,CAI18915,EAX06857,EAX06858,EAX06859,BAG54749,BAG58877,AAI04858,AAI04864,AAI43571,AAI43573,Q2M3M2 Hs.37890 MGC132517|MGC132523|SGLT4 Na(+)/glucose cotransporter 4|hSGLT4|sodium/glucose cotransporter 4|solute carrier family 5 member 9 protein-coding 731475 SLC6A1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft (Hirunsatit et al., 2009 [PubMed 19077666]).[supplied by OMIM] 1580863,1643191,1643202,1643208,1643214,1643219,1643206,1643209,1643205,1643217 20655483,2387399,19201752,19086053,19077666,19058789,18846501,18821565,18607529,18367207,18005940,17994179,17967412,17941974,17544870,17440935,17210573,17099065,16344560,15905165,15496410,15106822,14744863,14702039,12925537,12477932,12446715,11960023,11744314,11555659,11017172,10640187,10197772,9698305,9623887,9512391,9195904,8530094,8995422,19622377,20237276 1643191,1643202,1643208,1643214,1643219,1643206,1643209,1643205,1643217 6529 NM_003042,AC024910,CH471055,AK090958,AK295702,BC033904,BC057291,DA162953,X54673 NP_003033,EAW64088,EAW64089,EAW64090,BAH12161,AAH33904,CAA38484,P30531,ABM82148,ABM85331 Hs.443874 GABATHG|GABATR|GAT1 GAT-1|gaba transporter protein|sodium- and chloride-dependent GABA transporter 1|solute carrier family 6 member 1 protein-coding 1343735 SLC6A10P solute carrier family 6 (neurotransmitter transporter, creatine), member 10 (pseudogene) 16125675,12477932,9154116,8817324,8661037 386757 NR_003083,AC142086,U41163,AK125843,BC068290,BC117243 AAA96028,BAC86314,Q6ZUB2 Hs.433146 CT-2|CT2|FLJ43855|SLC6A10|SLC6A10pB similar to sodium- and chloride-dependent creatine transporter|solute carrier family 6 (neurotransmitter transporter, creatine), member 10 pseudo 732372 SLC6A11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 Gamma-aminobutyric acid (GABA) is a major inhibitory neurotransmitter. GABAergic neurotransmission is terminated by the uptake of GABA into the presynaptic terminal and the surrounding astroglial cells by sodium-dependent transporters, such as SLC6A11.[supplied by OMIM] 1580863,1643196,1299345 19450549,19086053,18334916,12477932,7874447,1400419,19874574,20379614,20424473 1643196,1299345 6538 NM_014229,AC018495,AC027128,CH471055,AK312719,BC036083,S75989,CS409836 NP_055044,EAW64086,EAW64087,BAG35593,AAH36083,AAB33570,P48066,Q8IYC9,AAI52736,CAL40956 Hs.657405 GAT-3|GAT3|GAT4 sodium- and chloride-dependent GABA transporter 3|solute carrier family 6 member 11 protein-coding 731509 SLC6A12 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 1580863 20597903,19204726,19086053,16344560,16198020,14702039,12477932,12111824,10228153,7861179,7589472,18195088,20424473,20383146 6539 NM_001122848,NM_001122847,NM_003044,AC007406,CH471116,AK096046,AK125026,AK131564,AK307167,AK313690,BC026339,BC036838,BC126215,BC126217,CR608440,DA638367,L42300,U27699 NP_001116320,NP_001116319,NP_003035,EAW88975,EAW88976,EAW88977,EAW88978,BAG53203,BAG54125,BAD18697,BAG36439,AAI26216,AAI26218,AAA66574,AAA87029,P48065,Q6ZMM8,ADR83067 Hs.437174 BGT-1|BGT1|FLJ38727|GAT2 Na(+)/Cl(-) betaine/GABA transporter|OTTHUMP00000115358|gaba transporter|gamma-aminobutyric acid transporter|sodium- and chloride-dependent betaine transporter|solute carrier family 6 member 12 protein-coding 733725 SLC6A13 solute carrier family 6 (neurotransmitter transporter, GABA), member 13 1580863 16344560,19450549,19086053,17502375,16125675,12477932,11824941,1400419,19913121,20628086,19874574,20379614,20383146,20398908,20424473 6540 NM_016615,AC007406,CH471116,AF462445,AK295904,AK296127,AK296209,AK313511,BC020867,BC022392,U76343,AI802118,DA374290,NM_001190997,NR_034028 NP_057699,EAW88972,EAW88973,EAW88974,AAP97713,BAG58695,BAG58873,BAG58935,BAG36291,AAH20867,AAH22392,AAF64247,Q8WW56,Q9NSD5,ABM82951,ABM86143,NP_001177926 Hs.504398 GAT-2|GAT2 GABA transport protein|sodium- and chloride-dependent GABA transporter 2|solute carrier family 6 member 13 protein-coding 1347984 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 SLC6A14 is a member of the Na(+)- and Cl(-)-dependent neurotransmitter transporter family and transports both neutral and cationic amino acids in an Na(+)- and Cl(-)-dependent manner.[supplied by OMIM] 1625271,1625272,1625275,1625278,1580863 19913121,20628086,12477932,16344560,17575980,18195088,19876004,10446133,18700007,18599538,18029348,15905073,15772651,15489334,15331564,14660752,12388375,10999806 1625271,1625272,1625275,1625278 11254 DB207650,NG_021305,NM_007231,AL034411,CH471234,Z96810,AF151978,AK304243,AK313390,BC093710,BC093712 NP_009162,CAI43081,EAW51500,EAW51501,CAI42799,AAD49223,BAG65111,BAG36188,AAH93710,AAH93712,Q9UN76 Hs.522109 ATB(0+)|BMIQ11 amino acid transporter ATB0+|amino acid transporter B0+|sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)|solute carrier family 6 (neurotransmitter transporter), member 14|solute carrier family 6 member 14 protein-coding 735866 SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 SLC6A15 shows structural characteristics of an Na(+) and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites (Farmer et al., 2000 [PubMed 11112352]).[supplied by OMIM] 737637,1580863 11112352,19147495,16344560,16226721,16185194,15489334,14702039,12477932,10471414,8889548,18195088 737637 55117 NM_182767,NM_018057,NM_001146335,AC018922,CH471054,AF265577,AF351619,AI368909,AK001178,AK022853,AK291207,AK294945,AL050066,BC022253,BC070040,BE535587,CR613550,CR749673,DA247242,BM696062 NP_877499,NP_060527,NP_001139807,EAW97388,EAW97389,EAW97390,AAG41361,AAN76519,BAA91536,BAB14274,BAF83896,BAH11933,AAH22253,AAH70040,CAH18464,Q68CX0,Q8IXG2,Q8TBM6,Q9H2J7,Q9H9F5,Q9NW50 Hs.44424 DKFZp761I0921|FLJ10316|MGC87066|NTT73|SBAT1|V7-3|hv7-3 homolog of rat orphan transporter v7-3|orphan sodium- and chloride-dependent neurotransmitter transporter NTT73|orphan transporter v7-3|sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7|solute carrier family 6 (neurotransmitter transporter), member 15|solute carrier family 6 member 15|solute carrier family 6, member 15 protein-coding 1353315 SLC6A16 solute carrier family 6, member 16 SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM] 737637,1580863 11112352,12477932,11230166,10471414 737637 28968 NM_014037,AC011450,CH471177,AF151977,AF265578,AL136856,AW451672,BC034948,BG772801 NP_054756,EAW52464,AAD38044,AAG41362,CAB66790,AAH34948,Q8IYV4,Q9GZN6 Hs.130949 NTT5 orphan sodium- and chloride-dependent neurotransmitter transporter NTT5|solute carrier family 6 (neurotransmitter transporter), member 16 protein-coding 1603474 SLC6A17 solute carrier family 6, member 17 The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM] 19147495,16710414,16344560,16125675,14702039,12477932,20379614 388662 DA325382,DA081361,NM_001010898,AL137790,AL355990,CH471122,AK054687,AK124875,AK289982,AK297429,AL137437,AL833249,BC140908 Q6ZV87,Q9H1V8,NP_001010898,CAI18832,CAI18927,EAW56432,BAC85976,BAF82671,BAG59857,AAI40909 Hs.128382 NTT4 OTTHUMP00000013508|orphan sodium- and chloride-dependent neurotransmitter transporter NTT4|solute carrier family 6 (neurotransmitter transporter), member 17 protein-coding 1346320 SLC6A18 solute carrier family 6, member 18 The SLC6 family of proteins, which includes SLC6A18, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM] 737633,1580863 19478081,18554081,16340170,16125675,15489334,15286787,14702039,12477932,18195088,19692168 737633 348932 NM_182632,AC114291,AY007685,CH471102,AK055798,AK298257,BC056757 NP_872438,AAG23290,EAX08172,EAX08173,BAB71018,BAG60521,AAH56757,Q96N87,Q9BYZ7 Hs.213284 FLJ31236|Xtrp2 sodium channel-like protein|sodium- and chloride-dependent transporter XTRP2|sodium-dependent neutral amino acid transporter B(0)AT3|solute carrier family 6 (neurotransmitter transporter), member 18|system B(0) neutral amino acid transporter AT3 protein-coding 1604954 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq] 19335424,19322909,18671945,18484095,17555458,15286788,15286787,15044460,14702039,11394870,20399395,18195088 340024 NM_001003841,NG_008282,AC114291,CH471102,AI015994,AK000687,AK091954,AK096054,AK123779,AK290811,AY591756,AY596807 NP_001003841,EAX08174,EAX08175,BAG53204,BAG53960,BAF83500,AAT66171,AAT42127,Q695T7,AAI46291,AAI48802 Hs.481478 B0AT1|FLJ20680|FLJ34635|HND sodium-dependent amino acid transporter system B0|sodium-dependent neutral amino acid transporter B(0)AT1|solute carrier family 6 (neurotransmitter transporter), member 19|solute carrier family 6 member 19|system B(0) neutral amino acid transporter AT1|system B0 neutral amino acid transporter protein-coding 731947 SLC6A2 solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 The SLC6A2 gene encodes a norepinephrine (noradrenaline) transporter, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis (Kim et al., 2006 [PubMed 17146058]).[supplied by OMIM] 1580863,1624279,1624278 16024787,2008212,11343649,18029348,19506906,19387424,19365399,19352218,19105200,19095219,19086053,19058789,18937296,18821566,18821565,18821564,18779921,18702937,18629431,18617423,18591486,18552510,18511195,18259012,18214863,18197080,18196892,18187607,18163388,18089827,18085566,18081710,17994190,17955457,17920180,17917281,17876324,17845831,17654409,17630229,17621171,17475971,17428804,17404580,17353941,17239355,17156375,17146058,17124432,17032905,16969268,16965261,16848906,16741933,16712949,16573647,16538182,16272960,16242784,16189177,16092934,15963952,15946904,15900230,15763139,15763138,15757904,15722184,15717291,15539861,15485485,15362567,15337646,15322419,15138209,15135235,15118352,14726430,14675164,14620922,12805287,10684912,10037744,9808705,9655936,8478011,7905857,7488042,20691427,20863575,20929549,21070505,20588071,18937309,12787070,11707293,12629174,12589229,12480177,12477932,12401556,12374639,12210284,12210281,12140790,12127072,12097806,11927173,11920844,11875370,11744160,11739781,19913121,20628086,20681272,20818294,16344560,19468717,19483189,19564048,19649213,19685476,19693267,19698724,19721846,19727679,19808400,19844206,19858760,19874574,19944766,20017301,20332182,20351714,20398908,20424473,20468064,20491280,20700532 1624279,1624278 6530 NM_001043,AC136621,AF061198,CH471092,X91117,X91119,AB022846,AB022847,AK301811,AK310410,AK312793,BC000563,BC039309,BC060831,CR611590,M65105,AU132072,DA853047,NG_016969,NM_001172501,NM_001172502,NM_001172504 NP_001034,AAD17521,EAW82831,EAW82832,EAW82833,EAW82834,EAW82835,CAA62566,CAC39181,BAA82110,BAA82111,BAG63260,BAG35654,AAH00563,AAA59943,P23975,Q71UR5,Q96KH8,Q9BW84,Q9UQ04,Q9Y6W9,AAI56904,NP_001165972,NP_001165973,NP_001165975 Hs.78036 NAT1|NET|NET1|SLC6A5 neurotransmitter transporter|norepinephrine transporter|sodium-dependent noradrenaline transporter|solute carrier family 6 (neurotransmitter transporter,noradrenalin), member 2|solute carrier family 6 member 5 protein-coding 1603308 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq] 15632147,15308626,12477932,11352561,9932288,18195088,19657969 54716 NM_022405,NM_020208,AC098476,AJ289880,CH471055,AF075260,AF125107,AJ276207,AJ276208,AL389979,BC036073,BC126197,BC136431,BC144087,DR006419,EL949345,NG_023204 NP_071800,NP_064593,CAB96872,EAW64747,EAW64748,AAC27755,AAL75944,CAB99310,CAB99311,CAB97535,AAI26198,AAI36432,AAI44088,Q9NP91,ADR83334 Hs.413095 MGC161475|SIT1|XT3|Xtrp3 X transporter protein 3|neurotransmitter transporter RB21A|orphan transporter XT3|sodium- and chloride-dependent transporter XTRP3|sodium/imino-acid transporter 1|solute carrier family 6 (neurotransmitter transporter), member 20|transporter rB21A homolog protein-coding 2303486 SLC6A21P solute carrier family 6 (neurotransmitter transporter), member 21 (pseudogene) 16125675 652969 NG_009578,AC008891 SLC6A21 pseudo 733809 SLC6A3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 The dopamine transporter (DAT1) mediates the active reuptake of dopamine from the synapse and is a principal regulator of dopaminergic neurotransmission. The DAT1 gene has been implicated in human disorders such as parkinsonism, Tourette syndrome, and substance abuse (Vandenbergh et al., 1992 [PubMed 1359373]).[supplied by OMIM] 1358582,1625653,1625655,1625656,1625663,1625668,1580863,734997 16885233,17260170,17380124,18583979,19170196,19443134,19447357,19450132,19576958,19590515,19590691,19621370,19625176,19647327,19655343,19664686,19666577,19673036,19676101,19692168,19693267,19717274,19739106,19740369,19761593,19764480,19764934,19766158,19766189,19767592,19769301,19772578,19779799,19789190,19796878,19805704,19818050,19819301,19827313,19844206,19858760,19874574,19879111,19884604,19890261,19892410,19906444,19944766,19956635,19960520,20006992,20026227,20033274,20041956,20049490,20051513,20053379,20074437,20086298,20091113,20098830,20117122,20132487,20146095,20170711,20179766,20205808,20210499,20218802,20332413,20367960,20391341,20427663,20430042,20450954,20459035,20461808,20464528,20468064,20493539,20497233,20505554,20505557,19304505,19288168,19247849,19196467,19193883,19183461,19176830,19156168,19152006,19146920,19142409,19120712,19104049,19098122,19091889,19086053,19058789,19030722,19025233,18973248,18937842,18937294,18841010,18831910,18826446,18821566,18810510,18802924,18802919,18788325,18779819,18769827,18762727,18729135,19309018,18720903,18704100,18690118,18690117,18676680,18668530,18665883,18636124,18609439,18588943,18580852,18563707,18563706,18559107,18553640,18553389,18552399,18504048,18468730,18446263,18444252,18434921,18434601,18426798,18404133,18393256,18374902,18366104,18361424,18331164,18327668,18270970,18239643,18216182,18214865,18214864,18206700,18197081,18197080,18188752,18181793,18174826,18165969,18094849,18088380,18081165,18070248,18053732,18046306,18045777,18023044,18004640,17979508,17965994,17955458,17955457,17934207,17928119,17907820,17893706,17873367,17711354,17705902,17704152,17692827,17690944,17689985,17679637,17671965,17654295,17633563,17621383,17608284,17582621,17579611,17579368,17579365,17549062,17539957,17526637,17525955,17508996,17508355,17501935,17500623,17485610,17483451,17466074,17449559,11343649,16024787,10823899,19519258,19513381,19506906,19506579,19494806,19490304,19482231,19478460,19418498,19409950,19390575,19388000,19376159,19368898,19364291,19360691,19352220,19352218,16585476,16569110,16545000,16537431,16526040,16526026,16424823,16406146,16402340,16389711,16389200,16368111,16342279,16309561,16261167,16222334,16216085,16201143,16178931,16178930,16171832,16168728,16165273,16139170,16125912,16123773,16110277,16109712,16109590,16103889,16082693,16082688,16041244,15996968,15993876,15940306,15924135,15872345,15845322,15827573,15823165,15809660,15768394,15763138,15724142,15722958,15708296,15683546,15608954,15605097,15602501,15567077,15542698,15492001,15381926,15380858,15370155,15274029,15229055,15211638,15210531,15202772,15193761,15190232,15148564,15135042,15094788,15091313,15069467,15024426,15024013,14978671,14732864,14732464,14685824,14681904,14660644,14597628,14584093,14570538,14519759,12947560,12931138,12915833,12898575,12874502,12859681,12815660,12773538,12746456,17449448,17440978,17440951,17440935,17439486,17432702,17427194,17427187,17413453,17403983,17392738,17325714,17316573,17314918,17267664,17264803,17255098,17250655,17245411,17225991,17192955,17191306,17187291,17175058,17171650,17157268,17150335,17135598,17130883,17120049,17109713,17079728,17063150,17044101,17044099,17042887,17028370,17023870,16963468,16930369,16917950,16894395,16818870,16783497,16782077,16760197,16741944,16712949,16710758,16702979,16674552,16671078,16623961,16611807,16604301,12708251,12707943,12707931,12740596,12686408,12672538,12660802,12658362,12650952,12630565,12605102,12579508,12513948,12490667,12477932,12465073,12464618,12459514,12457396,12453630,12429746,12422069,12401557,12232785,12215242,12210886,12177201,12173460,12172219,12149916,11989984,11959130,11911442,11834311,11820798,11807408,11803445,11803442,11798784,11774209,11558224,11505915,11449401,11378848,11304827,11292651,11244477,11239904,11220753,11165777,11140838,11104840,10889531,10391209,10363710,9837830,9703165,9398650,9300814,8628395,8302271,7717410,7637582,1406597,1359373,1353885,16237680,14550771,20688912,20338240,12958153,20161733,20554017,20141527,21112253,20551163,20580759,20593420,20602615,20603187,20620172,20631685,20661460,20672519,20678555,20685009,20731709,20736997,20800641,20817043,20732903,20734064,20845394,20862259,20960275,21041608,21049181,21050355,21078357,21083670,20463658,20739786,20548783,20700532 1358582,1625653,1625655,1625656,1625663,1625668,734997 6531 AI586989,NG_015885,NM_001044,AC026748,AF119117,AF321321,AY623110,CH471102,CS223367,D88570,U92262,Y10141,AK310589,BC132977,BC133003,EF174603,L24178,M95167,M96670,S44626,S46955,HI987308,HI988463,HI988576,HI939012,HI939125,HI939238,HH935282 NP_001035,AAC50179,AAG33844,AAT38106,EAX08158,EAX08159,EAX08160,CAJ46923,BAA22511,AAC51876,CAA71229,AAI32978,AAI33004,ABO77644,AAA19560,AAC41720,AAA35770,AAB23443,AAA11754,Q01959,Q6LC27,Q99494,CBY88727,CBY88755,CBY88774,CBY79733,CBY79752,CBY79771,CBX36861 Hs.406 DAT|DAT1 DA transporter|sodium-dependent dopamine transporter|solute carrier family 6 member 3|solute carrier family 6, member 3 protein-coding 732932 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq] 1580639,1580863,1358567,1624295,4889460,4889466,4889442,4889509,4889434,4889462,4889426,4889435,4889437,4889474,4889430,4889438,4889445,4889516,4889432,4889440,4889463,4889441 19199283,19199247,19193231,19192461,19192439,19184136,19175813,19170855,19170664,19170449,19158433,19156168,19154632,19152387,19142409,19141529,19137235,19135154,19132251,19128885,19126263,19125390,19125330,19125211,19125107,19122845,19121834,19121342,19120710,19105220,19103261,19095219,19086091,19086053,19083208,19067809,19060480,19059448,19058789,19052197,19046929,19037205,19032968,19032576,19032574,19030722,19020798,19019335,19016667,19016475,19015103,19014073,19012817,19008895,19005081,19000200,18991848,18987562,18986649,18986359,18983999,18983505,18982004,18981341,18979110,18430257,18405071,18405062,18404133,18396414,18387780,18379473,18378990,18364363,18363639,18361419,18360696,18358985,18358611,18354388,18349701,18349696,18349694,18347599,18332644,18331740,18331431,18330458,18325652,18317590,18315446,18314311,18314252,18311688,18306344,18286634,18286633,18279474,18273536,18270970,18270821,18266983,18264772,18261931,18253134,18240646,18239665,18239643,18227069,18214863,18212126,18211952,18209475,18197083,19375170,19375109,19369912,19367581,19361959,19360675,19358998,19358979,19352218,19342987,19339052,19338744,19337825,19332357,19332346,19331786,19330775,19329228,19328219,19324793,19309415,19288578,19281802,19272758,19268543,19259652,19252508,19251870,19249159,19228812,19224115,19223791,19221690,19215635,19213730,19209991,19209222,19207629,19204908,19203166,11343649,7681602,19649213,19647944,19647327,19639876,19638296,19637400,19625753,19625011,19620588,19615421,19606452,19590996,18193379,18191458,18191318,18188752,18188666,18186076,18182772,18181968,18180427,18164547,18158371,18155777,18079067,18075477,18075474,18073772,18063936,18057558,18055562,18053732,18050262,18045695,18039673,18005940,18004675,17991706,17987668,17974934,17971028,17970527,17964050,17955359,17950969,17949693,17948892,17948872,17944104,17943026,17942837,17940752,17931441,17931440,17931437,17931429,17928119,17913921,17909168,17892388,17886257,17877505,17875025,17874349,17853254,17823651,17804080,18973248,18972745,18962988,18962444,18957375,18951433,18950748,18937842,18937309,18930474,18925984,18925339,18848359,18832011,18831910,18827956,18826446,18826444,18822694,18818748,18815011,18806915,18804097,18801474,18797395,18792946,18775088,18760272,18756498,18729589,18725220,18718871,18715757,18700161,18691701,18691405,18690118,18690117,18688140,18687577,18686203,18683185,18663369,18661222,18657242,18647635,18644006,18640745,18629430,18628680,18628678,18628241,18618621,18615541,18614671,18607773,18603313,18603262,18588943,18587210,18581270,18573584,18569577,18563476,16272152,16257094,16252073,16249995,16220023,16215942,16212676,16209960,16205790,16205777,16191748,16186633,16186632,16167465,16163530,16154545,16139170,16127282,16125912,16125146,16109588,16109120,16103890,16103887,16095668,16093315,16091117,16088327,16082698,16082690,16082508,16055563,16055263,16038876,16034444,16025417,16024787,16023085,16009349,15999296,15995945,15993855,15986189,15983622,15974579,15965993,15953488,15940302,15940301,15940296,15939518,15908092,18562131,18552399,18546120,18534687,18534686,18534635,18511740,18511195,18510611,18510261,18505306,18498636,18495314,18491196,18490109,18486105,18477062,18476994,18465388,18458677,18455241,18452396,18452186,18450378,18445138,18441666,18978318,17766685,17728667,17728663,17728423,17722012,17711874,17707567,17702275,17702053,17700575,17698206,17697394,17690945,17690869,17690552,17678634,17659308,17642369,17635185,17629953,17628790,17621383,17621167,17621163,17618721,17614196,17606812,17598758,17597424,17579368,17579366,17579356,17564628,17564514,17563839,17548158,17544870,17544379,17519929,17511889,17509016,17504250,17503984,17482146,17481593,17466494,17460615,17455215,17453062,17453059,17453058,17450557,17440951,17437611,17417056,17414739,17408646,17406648,17406646,17401157,17394071,17392738,17387319,17382402,17375136,17373693,17365753,17359932,17356577,17353910,17351723,17342170,17340199,17324031,17310797,17307423,17299512,17299098,17297267,17297200,17295220,17291660,17291658,17287080,17280648,17241856,17241828,17225991,17225932,17221847,17217236,17216342,17211439,17210141,17203304,17183148,17174018,17167343,17167334,17157919,17157270,17151167,17146470,17137596,17124363,17123722,17123473,17113652,17101915,17093889,17092972,17092963,17083920,17079080,17074108,17069894,17063469,17055531,17051418,17042919,17040410,17033630,17029913,19588468,19586232,19562769,19561511,19560507,19558853,19558834,19556740,19549114,19548561,19548263,19541292,19538902,19535614,19531786,19527514,19526102,19521089,19506906,19493540,19491818,19490304,19489894,19487392,19474754,19455600,19439600,19437595,19434072,19429111,19429092,19429037,19429025,19426812,19426172,19423361,19420264,19413407,19411808,19410377,19409499,19408837,19396697,19387615,19383563,19381154,19375285,18197080,15905633,15905629,15893580,15882779,15880108,15879594,15867649,15867107,15867106,15863794,15862212,15852063,15850737,15849387,15845322,15842033,15840420,15834221,15832033,15824745,15806583,15804387,15758168,15741482,15729746,15728438,15722951,15719397,15699291,15691525,15690467,15670397,15666036,15657646,15654505,15642926,15635638,15635592,15634764,15630076,15627807,15621215,15610939,15592465,15589566,17028448,17026953,17018806,17017823,17013635,17009264,17008313,17000009,16991018,16972235,16972224,16969368,16969275,16969272,16966839,16966188,16965382,16958039,16958038,16953000,16950802,16946185,16942951,16941663,16941121,16936762,16934775,16930719,16920076,16900105,16893493,17766691,16886116,16882008,16875929,16874005,16870614,16868569,16859753,16856124,16848906,16829782,16822601,16819620,16804504,16801378,16787706,16770336,16756688,16741214,16732845,16721604,16702982,16698432,16691588,16691130,16690085,16679343,16674932,16642437,16623937,16618266,16616719,16614302,16604301,16601320,16583440,16583436,16582043,16580768,16541086,16538180,16536124,16527819,16525856,16525076,16515395,16510244,16497275,16491645,16481140,16464506,16464220,16459126,16458264,16449418,16443280,16432527,16430230,16421513,16412987,16405867,16402131,16399993,16397402,16395127,16395126,16389730,16389711,16380315,16362658,16362633,16344560,16339917,16338761,16319504,16319503,16314764,16313923,16313653,16303282,16302021,16281377,16274962,15581469,15578606,15572182,15570522,15563601,15546263,15542698,15539857,15523490,15521831,15520364,15489334,15475734,15450911,15370155,15354180,15346539,15341275,15337646,15322730,15318112,15318027,15318024,15313842,15312818,15312441,15292674,15274038,15274037,15272632,15263905,15241435,15229244,15226315,15211642,15211560,15188158,15187981,15172105,15168220,15167705,15167699,15158011,15148564,15138209,15135235,12903048,12898578,12886033,12877393,12877392,12876460,12874600,12872203,12869766,12869649,12860364,12855229,12851635,12824740,12808427,12782968,12763299,12760255,12759157,12749731,12746735,12711403,12707931,12692777,12668354,12658617,12658362,12630565,12629534,12629533,12627465,12607224,12605580,12605095,12599191,12582974,12573307,12563545,12556912,12534269,12524160,12497618,12477932,12476327,12431765,12422060,12399942,12390616,12378120,12374640,12374478,12351926,15123389,15121487,15118354,15111989,15108187,15094787,15091312,15066703,15059929,15052272,15048689,15048655,15048645,15048639,15048635,15041087,15037864,15005715,15000807,14998889,14992987,14992979,14966478,14757594,14745247,14744464,14735161,14714116,14706424,14668201,14660642,14659987,14653304,14634838,14625025,14624186,14612228,14604448,14593433,14593431,14592408,14583797,14574222,14573315,14573314,14530202,14512208,14508012,14506400,12966525,12962916,12955294,12944272,12942632,12915525,12218661,12218660,12218657,12208565,12192626,12188031,12175857,12173460,12145795,12140775,12135035,12130784,12111622,12098489,12097805,12090814,12082589,12081984,12068552,12057823,12018177,12003247,11992558,11983186,11979062,11950504,11927194,11925279,11920858,11920155,11913731,11900612,11872329,11840315,11817517,11803526,11803453,11803447,11775000,11772685,11702061,11702016,11690601,11684336,11602033,11583250,11578639,11559314,11543734,11525423,11490436,12232786,12232775,11449399,11449397,11442897,11425009,11412868,11409697,11408789,11386982,11353442,11343598,11335745,11326308,11326306,11324940,11317229,11317220,11311507,11311448,11300730,11298795,11279528,11244478,11240581,11239910,11236836,11190480,11166082,11166081,11140838,11121194,11113619,11071889,11044587,11027924,10713891,10666888,10579573,10391209,10364189,9326263,8788073,8632190,8602004,8452685,7865169,7789954,7684072,20637736,19739105,19438736,20129829,19997855,20358007,20586185,19913121,20553751,20569447,20573579,20577990,20579008,20579662,20584994,20585760,20585826,20586534,20588071,20591416,20594303,20598814,20598843,20599283,20601923,20602156,20602615,20615496,20619617,20628086,20628266,20637828,20640435,20642399,20643316,20649385,20653450,20653909,20655708,20655956,20659488,20661026,20661167,20664233,20674984,20677439,20677849,20694965,20729761,20735998,20738025,20738408,20800901,20817074,20092830,20122741,20739786,12177201,17506858,17575980,18583979,19251454,19261524,19263059,19270731,19326435,19439997,19444877,19446647,19451862,19465875,19468717,19475634,19500602,19567154,19567893,19567894,19570226,19573260,19573575,19582567,19617327,19653783,19672140,19673036,19673052,19675533,19683026,19685963,19687750,19693267,19696961,19699062,19702491,19704949,19706565,19708070,19713975,19715738,19723555,19725030,19726478,19729601,19734157,19742166,19747920,19754661,19767013,19767592,19769585,19779024,19781560,19806585,19811586,19818050,19818823,19822181,19824018,19825907,19829167,19829168,19835103,19837674,19842167,19844076,19844206,19845785,19853632,19856660,19858108,19858760,19860858,19863848,19874574,19876010,19878141,19878929,19883751,19884608,19885623,19885717,19886858,19891962,19892699,19894072,19895335,19895766,19895869,19897250,19899670,19899843,19906444,19910872,19911410,19914329,19924014,19935847,19936617,19936882,19944766,19957188,19961731,19962442,19969089,19969287,19969374,19995670,19996755,20001112,20002020,20006325,20010449,20010450,20016401,20017301,20018225,20020537,20022223,20025927,20029939,20031235,20031642,20034565,20037522,20039945,20042999,20043001,20045118,20046399,20060655,20060656,20071033,20075642,20080425,20080926,20090673,20092861,20096463,20101393,20110084,20110086,20113357,20145277,20146650,20147891,20159976,20175892,20180013,20188795,20192950,20196101,20196447,20203198,20209488,20212518,20231323,20303273,20304925,20309830,20332182,20332289,20336806,20337192,20345836,20345842,20346360,20351589,20351714,20360351,20363030,20368500,20380781,20381161,20395645,20398347,20398943,20403506,20405199,20406689,20397838,20407490,20409018,20416884,20421847,20421848,20434135,20434316,20435093,20436453,20438360,20439795,20440524,20441718,20442744,20446882,20450949,20452754,20455953,20462563,20468059,20468064,20473794,20483717,20488209,20491280,20493234,20502016,20505557,20509052,20515362,20526950,20538286,20545463,8987735,20451351,20808944,20944177,11121166,20140262,20538960,20606244,20691427,20734064,20836601,20838391,20851164,20852909,20862259,20862697,20880592,20888887,20920548,20945430,20959425,20962544,20970779,20971165,20981038,21034694,21037213,21038952,21039487,21040287,21042318,21055833,21058325,19658029,20382236 1580639,1358567,1624295,4889460,4889466,4889442,4889509,4889434,4889462,4889426,4889435,4889437,4889474,4889430,4889438,4889445,4889516,4889432,4889440,4889463,4889441 6532 AAB26687 NM_001045,NG_011747,AC104984,AF233399,CH471159,CS008504,U79746,X76753,X76754,X76755,X76756,X76757,X76758,X76759,X76760,X76761,X76762,AA700070,AK308014,AK309538,AK313166,AU138385,AY902473,BC069484,BQ017027,BX399758,DC345903,L05568,X70697,EU099989 NP_001036,AAF61945,EAW51223,CAI53631,AAB93475,BAG35984,AAW80933,AAH69484,AAA35492,CAA50029,AAB26687,P31645,Q5EE02,Q9NYN7,ABV02581 Hs.134662 5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|hSERT 5-hydroxytryptamine transporter|5HT transporter|Na+/Cl- dependent serotonin transporter|OTTHUMP00000163632|OTTHUMP00000163633|sodium-dependent serotonin transporter|solute carrier family 6 member 4|solute carrier family 6, member 4 protein-coding 732915 SLC6A5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 1580863 20859245,20934189,15276154,19650813,20219997,20424473,9845349,19086053,18638388,16884688,16751771,16691125,15489334,15124103,14675166,12738009,12477932,12091465,11709067,11036075,10606742,10381548,10722844 9152 AC090707,CH471064,AA625644,AF085412,AF117999,AF142501,AF352733,BC096319,BC096320,BC096321,BC096322,NM_004211,NG_013086 NP_004202,EAW68330,AAC95145,AAK12641,AAD27892,AAK29670,AAH96319,AAH96320,AAH96321,AAH96322,Q4VAM4,Q4VAM5,Q4VAM6,Q9Y345 Hs.136557 GLYT-2|GLYT2|NET1 sodium- and chloride-dependent glycine transporter 2|solute carrier family 6 member 5 protein-coding 69004 SLC6A6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 1580863 18195088,19074966,19602579,19734545,20424473,8382624,1518851,8010975,19423693,18703994,16956961,16356117,15907840,15630186,15225620,15166008,12681485,12477932,12163498,12062416,8889548,8654117 6533 AAB25509 NM_001134367,NM_001134368,AC090941,AC090952,AC093496,CH471055,AB209172,AF346763,AK303649,AK308417,AK309534,BC006252,BC111489,BC137128,BC137129,BC144490,BM149397,BM873716,BM981004,BQ945675,BU625571,BX478649,NM_003043,BX509263,BX510251,CD366732,U09220,U16120,Z18956,AK307284 NP_003034,NP_001127839,NP_001127840,EAW64192,EAW64193,EAW64194,EAW64195,BAD92409,AAK30132,BAG64652,AAH06252,AAI11490,AAI37129,AAI37130,AAC50443,AAA50842,CAA79481,AAB25509,P31641,Q59GD7,Q9BRI2 Hs.529488 MGC10619|MGC131729|TAUT sodium- and chloride-dependent taurine transporter|solute carrier family 6 member 6|solute carrier family 6, member 6 protein-coding 1344650 SLC6A6P solute carrier family 6, member 6 pseudogene 19240061,10830953 54019 NG_000901,AP000855,AP001675 SLC6A6P pseudo 734004 SLC6A7 solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq] 1580863 19874574,20379614,20424473,20431603,7651355,15489334,14702039,12477932,8889548,7797577 6534 NM_014228,AC005895,CH471062,AK096607,AK308895,AK312309,BC069631,BC093785,BC113425,BM682856,S80071 NP_055043,EAW61743,EAW61744,BAG35234,AAH69631,AAH93785,AAI13426,AAB47007,Q99884,ADR83094 Hs.241597 PROT brain-specific L-proline transporter|sodium-dependent proline transporter|solute carrier family 6 member 7 protein-coding 1342978 SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1600037,1580863 7953292,8661155,19188083,18515020,18461508,18443316,18350323,17603797,17101918,16738945,16086185,16049011,16036218,15489334,15338463,15154114,12477932,12219031,12210795,11898126,11326334,11063724,8661037,7945388,7774949,7622069,20602486,10893433,19570237,19879361 1600037 6535 NM_005629,NM_001142805,NM_001142806,NG_012016,U36341,Z66539,AB209704,AK295495,AK309060,BC012355,BC081558,BE207407,CA424985,CX788315,EU280316,L31409,S74039,U17986 NP_005620,NP_001136277,NP_001136278,AAA79507,CAA91442,BAD92941,BAG58415,AAH12355,AAH81558,ABZ82022,AAC41688,AAB32284,AAA86990,P48029,Q13032,Q59EV7,ABM83232,ABM86431 Hs.540696 CRT|CRTR|CT1|MGC87396 creatine transporter 1|creatine transporter SLC6A8|sodium- and chloride-dependent creatine transporter 1|solute carrier family 6 member 8 protein-coding 732096 SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 1580863 19556729,19650813,7595479,8183239,19427831,19086053,18638388,18411704,17582620,16841561,16604304,16121932,15146197,12091465,11360303,11159884,10722844,10625616,10606742,8494645,7721869,7587377 6536 NM_001024845,NM_006934,NM_201649,AL139220,CH471059,CR749669,AI884725,AK295659,AK296438,AK298611,AK304057,AK311136,AK315233,AK315933,CN354684,S70609,S70612 NP_001020016,NP_008865,NP_964012,CAI19428,CAI19429,CAI19430,EAX07054,EAX07055,EAX07056,EAX07057,BAH12145,BAH12354,BAH12825,BAH14101,BAH14304,AAB30784,AAB30785,P48067,AAI56980 Hs.442590 DKFZp547A1118|GLYT1 OTTHUMP00000010004|OTTHUMP00000010005|glyT-1|glycine transporter 1|sodium- and chloride-dependent glycine transporter 1|solute carrier family 6 member 9 protein-coding 736349 SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 1580863 18195088,1348489,1718082,19067360,18574322,18172665,17494634,17325243,16344560,15631944,15491978,15489334,15342556,15086470,15064952,15057823,14702039,12787129,12477932,12388095,12202949,11891586,11665818,10485994 6541 NM_003045,AL596114,CH471075,AA527433,AF078107,AI362952,AK022999,AK124591,AK312818,AL050021,BC012895,BC033200,BC063303,BC069358,BC115407,BG248687,BM458630,BP356532,DA337847,DA394628,X57303,X59155 NP_003036,CAI39913,CAI39914,EAX08443,EAX08444,AAC27721,BAG35675,AAH63303,AAH69358,AAI15408,CAA40560,CAA41869,P30825,Q5JR49 Hs.14846 ATRC1|CAT-1|ERR|HCAT1|REC1L CAT1|amino acid transporter, cationic 1|ecotropic retroviral leukemia receptor homolog|ecotropic retroviral receptor|ecotropic retrovirus receptor homolog|high affinity cationic amino acid transporter 1|solute carrier family 7 member 1|solute carrier family 7, member 1|system Y+ basic amino acid transporter protein-coding 731925 SLC7A10 solute carrier family 7, (neutral amino acid transporter, y+ system) member 10 SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM] 1580863 10863037,10734121,15458438,12477932,11509015,11441184,15489334,15901826,18195088 56301 NM_019849,AC008738,AF340165,AB037670,AJ277731,AK000846,AK307527,AK316594,BC022457,BC035627 NP_062823,AAK93960,BAB03213,CAC81900,BAA91397,BAG38181,AAH35627,Q9NS82,Q9NWI3 Hs.58679 FLJ20839|HASC-1|asc-1 asc-type amino acid transporter 1|solute carrier family 7 member 10|solute carrier family 7, (cationic amino acid transporter, y+ system) member 10 protein-coding 1319531 SLC7A11 solute carrier family 7, (cationic amino acid transporter, y+ system) member 11 SLC7A11 is a member of a heteromeric Na(+)-independent anionic amino acid transport system highly specific for cystine and glutamate. In this system, designated system Xc(-), the anionic form of cystine is transported in exchange for glutamate.[supplied by OMIM] 1580863 20634891,19207949,19017641,19015640,18978678,18648370,18469825,18287333,18054200,17081983,16574866,15489334,15326101,15151999,14722095,12763038,12477932,12235164,11417227,11406111,11302733,11213471,10206947,15901826,17575980,18195088,20007406,20053169,11133847,20733204 23657 NM_014331,AB042201,AC093903,AC110804,AC116610,CH471056,AB026891,AB040875,AF200708,AF252872,AJ277882,AK290359,AK314855,BC012087,BC041925,CD639041 NP_055146,BAA94999,AAY41053,EAX05135,BAA82628,BAB40574,AAG35592,AAK49111,CAC81905,BAF83048,BAG37372,AAH12087,Q4W5A5,Q9BYH2,Q9P1X0,Q9UPY5 Hs.390594 CCBR1|xCT amino acid transport system xc-|calcium channel blocker resistance protein CCBR1|cystine/glutamate transporter|solute carrier family 7 member 11 protein-coding 1323193 SLC7A13 solute carrier family 7, (cationic amino acid transporter, y+ system) member 13 1580863 14702039,12477932,11943479,11907033,20379614 157724 NM_138817,AC084128,CH471060,AJ417661,AK055815,BC029436,BC125165,BC125166 NP_620172,EAW91633,CAD10393,BAB71021,AAH29436,AAI25166,AAI25167,Q8TCU3 Hs.149095 AGT-1|AGT1|MGC150476|MGC150477|XAT2 X-amino acid transporter 2|amino acid transporter XAT2|sodium-independent aspartate/glutamate transporter 1|solute carrier family 7 member 13 protein-coding 1605648 SLC7A14 solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 16344560,14702039,12477932,10997877,20379614 57709 NM_020949,AC008041,CH471052,AB046833,AK094547,AK122655,BC022968,CR599969,DA475001,N64525 NP_066000,EAW78510,BAB13439,BAG53645,AAH22968,Q8TBB6 Hs.596660 FLJ37228|KIAA1613 probable cationic amino acid transporter|solute carrier family 7 member 14 protein-coding 3476304 SLC7A15P solute carrier family 7 (cationic amino acid transporter, y+ system), member 15, pseudogene 15757906,18566733,20210993 100289450 AC007041,NG_012112 ARPAT pseudo 68562 SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 1580863 10756096,18195088,20424473,9040790,8954799,18029348,18172665,16344560,15489334,15064952,12787129,12477932,11665818,9174363,20430034,20600019 6542 AU077312,D78212,NM_001164771,NM_003046,NM_001008539,AB020863,AP006248,CH471080,AA724796,AI275549,AI458117,AK314287,AL512749,AL832016,BC069648,BC104905,BC113661,BC143583,CB216457,D29990,DB237902,U76368,U76369 NP_001158243,NP_003037,NP_001008539,EAW63812,EAW63813,EAW63814,EAW63815,CAD89909,AAH69648,AAI04906,AAI13662,AAI43584,BAA06271,AAB62810,AAB62811,P52569 Hs.448520 ATRC2|CAT-2|CAT2|HCAT2 solute carrier family 7, member 3|OTTHUMP00000216432|OTTHUMP00000216433|amino acid transporter, cationic 2|cationic amino acid transporter, y+ system|low affinity cationic amino acid transporter 2|low-affinity cationic amino acid transporter-2|solute carrier family 7 member 2 protein-coding 733970 SLC7A3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 SLC7A3 is a member of the system y+ family of transporters characterized by sodium-independent transport of cationic amino acids.[supplied by OMIM] 14702039,12477932,11591158,15489334,18029348,16332251,16303743,15737334,18195088 84889 NM_032803,NM_001048164,AL627071,CH471132,CQ783812,AF320612,AK027447,AK074865,AK075014,BC033816,CR601875,NG_021370 NP_116192,NP_001041629,CAI40156,EAX05329,EAX05330,CAF86874,AAL37184,BAB55118,BAC11253,BAC11353,AAH33816,Q8WY07,ABM81811,ABM84965 Hs.175220 ATRC3|CAT-3|CAT3|FLJ14541|MGC20687 cationic amino acid transporter 3|solute carrier family 7, member 3 protein-coding 1314214 SLC7A4 solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 1580863 9598310,18460403,17051526,15489334,15461802,12477932,12049641,11665818,9754584,10700465,20584552,20685009,20452607 6545 NM_004173,AC002472,AJ009516,CR456580,CH471176,AJ000730,BC008814,BC062565,BC107160,BC107161 NP_004164,CAA08723,EAX02909,CAA04263,AAH08814,AAH62565,AAI07161,AAI07162,CAG30466,O43246,CAK54608,CAK54907,ABM83599,ABM86826 Hs.197116 CAT-4|CAT4|HCAT3|MGC129976|MGC129977|VH Ig heavy chain variable region|VH 3 family|cationic amino acid transporter 4|solute carrier family 7 member 4 protein-coding 1354186 SLC7A5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 1580863 1597461,20375792,19559497,9751058,19347882,19184136,19121087,19018776,18813831,18440724,18382329,18294274,18262359,18253116,18095110,17622555,17558306,16496379,16175382,16097034,15900591,15769744,15589117,15489334,15302935,15200428,15178563,12925876,12824232,12477932,12225859,12117417,12009310,11557028,11535130,11311135,11095508,10629848,10568788,10072483,10049700,9878049,9829974,7829099,8922468,7561057,9403839,20374249,15901826,18195088,19171406,19430419,19635099,19777189,20510678,20601542,20091333 8140 M80244,AB023721,AC126696,AM182888,CH471114,AB017908,AB018009,AB018542,AF077866,AF104032,BC014177,BC039692,BC042600,BC114608,CR594130,CR601601,CR625513,NM_003486 AAA35780,Q01650,Q2MCL6,Q8IV97,Q96QB2,ABM84264,ABM87765,NP_003477,BAB70708,CAJ58680,EAW95373,EAW95374,EAW95375,BAA75746,BAA84648,BAA33851,AAC61479,AAD20464,AAH39692,AAH42600 Hs.513797 4F2LC|CD98|D16S469E|E16|LAT1|MPE16|hLAT1 4F2 LC|4F2 light chain|CD98 light chain|L-type amino acid transporter 1|integral membrane protein E16|large neutral amino acids transporter 1|large neutral amino acids transporter small subunit 1|sodium-independent neutral amino acid transporter LAT1|solute carrier family 7 member 5|y+ system cationic amino acid transporter protein-coding 1603607 SLC7A5P1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 pseudogene 1 This locus represents a transcribed pseudogene of the L-type amino acid transporter 1. [provided by RefSeq] 15146197,14702039,12477932,12009310,10493829 81893 NR_002593,AC009086,BI522879,BM923058,CN275837 Hs.677169 DC49|LAT1-3TM|MLAS|hLAT1-3TM LAT1-3TM protein 1 pseudo 1319397 SLC7A6 solute carrier family 7 (cationic amino acid transporter, y+ system), member 6 1580863 9829974,15342556,12477932,9878049,9039502,10903140,15901826,18195088,19443642 9057 NM_001076785,NM_003983,AC020978,CH471092,AK310602,AK310866,AK311610,BC028216,BC113100,BP242589,CR592629,CR601248,CR606394,CR613948,CR623370,CR749291,CR749475,D87432 NP_001070253,NP_003974,EAW83219,EAW83220,AAH28216,AAI13101,CAH18146,CAH18305,BAA13376,A0AUM0,Q68DB5,Q92536,ABM81949,ABM85129 Hs.726069 DKFZp686K15246|KIAA0245|LAT-2|LAT3|y+LAT-2 Y+L amino acid transporter 2|amino acid permease|cationic amino acid transporter, y+ system|solute carrier family 7 member 6|y(+)L-type amino acid transporter 2|y+LAT2 protein-coding 1602091 SLC7A6OS solute carrier family 7, member 6 opposite strand 16344560,14702039,12477932,9373149,8125298,20510023 84138 NM_032178,AC020978,CH471092,AK023353,AK091674,AK225712,AY078070,DB145613,BC013778,CR591193,CR603398 NP_115554,EAW83222,EAW83223,BAB14538,AAL79958,AAH13778,Q96CW6 Hs.709557 FLJ13291 ADAMS proteinase-related protein|protein SLC7A6OS|solute carrier family 7 member 6 opposite strand transcript protein-coding 733448 SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1624296,1580863 17764084,15756301,9829974,18716612,17666782,17530437,17196863,16344560,15776427,15489334,12589791,12477932,12402335,10737982,10655553,10631139,10080183,9878049,9199570,15901826,18195088,20379614 1624296 9056 NM_001126106,NM_003982,NM_001126105,AB031537,AL135998,CH471078,AB011263,AB020532,AB209591,AF092032,AJ130718,AK025377,AK301219,AK309128,AK314351,AL365450,AL365451,AL365452,BC003062,BC010107,BX161519,BX248291,CR601579,CR605487,CR613648,CR617040,CR626419,DA044956,DA638578,Y18474,NG_012851 NP_001119578,NP_003973,NP_001119577,BAA95120,EAW66245,EAW66246,EAW66247,EAW66248,BAB11849,BAA87623,BAD92828,AAC83706,CAA10198,BAG62792,BAG36987,AAH03062,AAH10107,CAD61952,CAD62619,CAB40136,Q59F70,Q9UM01,ABM82761,ABM85947 Hs.513147 LAT3|LPI|MOP-2|Y+LAT1|y+LAT-1 Y+L amino acid transporter 1|monocyte amino acid permease 2|solute carrier family 7 member 7|y(+)L-type amino acid transporter 1 protein-coding 1345085 SLC7A8 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 1580863 19913121,20628086,12117417,15901826,15918515,18195088,19851296,20198315,20379614,10574970,10391915,17558306,15769744,15489334,14702039,12716892,12477932,11311135,10610726,10080183,9373149,8125298 23428 NM_012244,NM_182728,AL117258,CH471078,AB037669,AF087908,AF087911,AF135828,AF135829,AF135830,AF171669,AK094550,AK223610,AK296702,AK300384,AK307609,AK313465,AL365342,AL365343,AL365344,AL365345,AL365346,AL365414,BC036825,BC052250,BX248288,Y18483 NP_036376,NP_877392,EAW66181,EAW66182,BAB21519,AAP97206,AAP97208,AAF05695,AAF05696,AAF05697,AAF20381,BAG52886,BAD97330,BAG59296,BAG62118,BAG36251,AAH36825,AAH52250,CAD62616,CAB40137,Q53EM9,Q7Z4Z3,Q7Z4Z5,Q86U05,Q8N424,Q9UHI5 Hs.596643 LAT2|LPI-PC1 L-type amino acid transporter 2|OTTHUMP00000164557|hLAT2|integral membrane protein E16H|large neutral amino acids transporter small subunit 2|solute carrier family 7 (cationic amino acid transporter, y+ system), member 8|solute carrier family 7 member 8 protein-coding 734403 SLC7A9 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Two transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq] 737767,1580863 15901826,18195088,19782624,20383145,20383146,20424473,10471498,10799513,19322909,18778962,18752446,17710781,17701443,16838140,16801163,16609684,16138908,15818803,15818799,15635077,15499206,15489334,15342556,14991253,14531788,12820697,12779097,12477932,12371955,12239244,12234283,12167606,11318953,11157794,10588648,9373149,9042922,9042921,8889548,8125298 737767 11136 NM_001126335,NG_008258,AC008805,AF421181,AB033548,AF141289,AJ249199,AK026446,AK223147,AK313708,AL365340,AL365341,AY170373,NM_014270,BC017962,BC029802,BP276659,CK300669 NP_055085,NP_001119807,AAN40878,BAB16840,AAD55898,CAB54003,BAD96867,BAG36453,AAH17962,P82251,Q53FY4,ABM82932,ABM86121 Hs.727587 BAT1|CSNU3|FLJ94301 B(0,+)-type amino acid transporter 1|b(0,+)AT|bo,+ amino acid transporter|glycoprotein-associated amino acid transporter b0,+AT1|solute carrier family 7 member 9 protein-coding 731021 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM] 727449,1580732,1642711,1598724,1580586,1642714,1642717,1642720,1642725,1642713,1642716,1642729,1580863,2316975,2316980 19541636,20018762,20109173,20379614,20424473,14593108,12502539,12477932,12031969,11916852,11821059,11350050,11241183,10536662,9847074,9516469,8921376,8790037,8485996,1647256,1559714,1476165,15475962,19830548,14702039,1374913,19095005,18996841,18660489,18635667,17912271,17846126,17541957,16921169,16679322,16399865,16314582,16292983,15824464,15785003,15703175,15557343,15033764,14981087,14736881,20173311 727449,1580732,1642711,1598724,1580586,1642714,1642717,1642720,1642725,1642713,1642716,1642729,2316975,2316980 6546 NM_001112802,NM_001112801,NM_001112800,NM_021097,AC007254,AC007281,AC007377,AC007877,AC093586,AC106048,CH471053,X91213,AB209075,AF108388,AF108389,AF115505,AF128524,AK095013,AK125406,AK291696,BC098285,BC098308,BC098345,BX537482,BX648299,M91368,M96368,X91221,X91815,Y12878,Y12885,Y13032,Y13033 NP_001106273,NP_001106272,NP_001106271,NP_066920,AAF19235,AAF19237,AAX81985,EAX00331,EAX00332,EAX00333,EAX00334,EAX00335,EAX00336,BAD92312,AAF08987,AAF08988,AAD17213,AAD26362,BAF84385,AAH98285,AAH98308,CAD97765,AAA35702,CAA62923,CAA73378,CAA73386,CAA73477,CAA73478,P32418,Q14913,Q4QQG6,Q4QQH3,Q59GN4,Q6LAJ8,Q6LAJ9,Q7Z686,AAI56360,AAI72488 Hs.31961,Hs.468274,Hs.656261 DKFZp779F0871|FLJ37694|FLJ43417|MGC119581|NCX1 Na(+)/Ca(2+)-exchange protein 1|Na+/Ca++ exchanger|Na+/Ca2+ exchanger|OTTHUMP00000128378|OTTHUMP00000201546|OTTHUMP00000201569|OTTHUMP00000201570|OTTHUMP00000201587|OTTHUMP00000201589|sodium/calcium exchanger 1 protein-coding 731774 SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2 730182,1580863,2316975,2316979,2316980 16679322,15557343,10470851,8021246,20132488,19913121,20628086 730182,2316975,2316979,2316980 6543 NM_015063,AC073548,CH471126,AB029010,AK293457,AK293836,AK293860,AK302552,AL512764,DC401065 NP_055878,EAW57484,EAW57485,EAW57486,BAA83039,BAG56952,BAG57237,BAG57255,BAG63821,CAC21681,Q9H021,Q9UPR5,AAI67838 Hs.172884 NCX2 Na(+)/Ca(2+)-exchange protein 2|Na+/Ca2+-exchanging protein Nac2|sodium-calcium exchanger 2|sodium/calcium exchanger 2|solute carrier family 8 (sodium-calcium exchanger), member 2|solute carrier family 8 (sodium/calcium exchanger), member 2|solute carrier family 8 member 2 protein-coding 732656 SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Three mammalian isoforms in family 8 have been identified. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq] 730187,1580863,2316975,2316979,2316980,2316976 15557343,15247490,14722618,14702039,12558991,12502570,12477932,12406570,10390518,9195292,8921376,8798769,16679322,16344560,16306395,15777725,20379614 730187,2316975,2316979,2316980,2316976 6547 NM_183002,NM_058240,NM_033262,NM_001130417,NM_182936,AF508982,AL135747,AL160191,CH471061,X93017,AF510501,AF510502,AF510503,AJ304852,AJ304853,AJ508602,AJ745101,AJ745102,AK096553,AK122728,BC023215,BC036783,BC114217,NM_182932,BC142969,BC150183,BC150193,BI551720,BI906774,BX248763,DA351808 NP_891977,NP_892114,NP_489479,NP_150287,NP_001123889,NP_891981,AAM90955,EAW81018,EAW81019,EAW81020,EAW81021,EAW81022,EAW81023,EAW81024,EAW81025,EAW81026,AAN60790,AAN60791,AAN60792,CAC40984,CAC40985,CAD48420,CAG33739,CAG33740,BAG53321,BAG53692,AAI42970,AAI50184,AAI50194,CAD66570,P57103,Q5K3P6,Q5K3P7,Q86TQ9,Q86Y47,Q96QG1,Q96QG2,AAI60014 Hs.337696 NCX3 Na(+)/Ca(2+)-exchange protein 3|Na+/Ca2+ exchanger 3|sodium/calcium exchanger 3|sodium/calcium exchanger SLC8A3|solute carrier family 8 (sodium-calcium exchanger), member 3|solute carrier family 8 (sodium/calcium exchanger), member 3 protein-coding 736585 SLC9A1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 The Na+/H+ antiporter (SLC9A1) is a ubiquitous membrane-bound enzyme involved in pH regulation of vertebrate cells. It is specifically inhibited by the diuretic drug amiloride and activated by a variety of signals including growth factors, mitogens, neurotransmitters, tumor promoters, and others (Mattei et al., 1988 [PubMed 2846238]).[supplied by OMIM] 1625560,1625563,727424,1580863 19301149,19479940,19622752,19835836,19854014,19887620,19958503,20138826,1712287,20427472,20855896,1979310,2536298,8283968,19176522,18996841,18953413,18776042,18757828,18701649,18508767,18508719,18480176,18407588,18264982,18263712,18094149,18094063,18003619,17982256,17981808,17943310,17916606,17913870,17894388,17662110,17565280,17349711,17339567,17332506,17209041,17167226,17073455,17050540,16861220,16710414,16710297,16511206,16475831,16344560,16306134,16189514,16002403,15843433,15823043,15772858,15677483,15610042,15535843,15523538,15489334,15465015,15269707,15253667,15096511,15035633,14702039,14680478,12905871,12809501,12765964,12682826,12626508,12598940,12576672,12562776,12549930,12479094,12477932,12226101,12138085,12065894,11852051,11696366,11604491,11369779,11350981,11279064,11163215,10913675,10713111,9688597,8901634,8068684,2846238,2154036,20338684,20542029,20547664,20936779,20609358 1625560,1625563,727424 6548 AL137860,AL590640,CH471059,AF141350,AF141351,AF141352,AF141353,AF141354,AF141355,AF141356,NM_003047,AF141357,AF141358,AF141359,AF146430,AF146431,AF146432,AF146433,AF146434,AF146435,AF146436,AF146437,AF146438,AF146439,AK124218,AK300432,AK314190,BC012121,BQ775239,DA313453,M81768,M96066,M96067,S68616,HI574184 NP_003038,CAI22086,CAI22087,CAI22088,CAI22089,CAI22090,CAH73554,CAH73555,CAH73556,EAX07773,EAX07774,EAX07775,AAF21350,AAF21351,AAF21352,AAF21353,AAF21354,AAF21355,AAF21356,AAF21357,AAF21358,AAF21359,AAF25592,AAF25593,AAF25594,AAF25595,AAF25596,AAF25597,AAF25598,AAF25599,AAF25600,AAF25601,BAG62158,BAG36869,AAH12121,AAB59460,AAC60606,P19634,Q5TBB2,Q5TBB3,CBX47581 Hs.469116 APNH|FLJ42224|NHE1 NHE-1|Na(+)/H(+) antiporter, amiloride-sensitive|Na(+)/H(+) exchanger 1|Na+/H+ antiporter, amiloride-sensitive|Na-Li countertransporter|sodium/hydrogen exchanger 1|solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)|solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive)|solute carrier family 9 member 1|solute carrier family 9, member 1 protein-coding 1351436 SLC9A10 solute carrier family 9, member 10 SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM] 1580863 14634667,12783626,12477932,20379614 285335 NM_183061,AC119734,AC128688,CH471052,AK128084,BC044801,BC143774,BK001328,HC007284 EAW79679,BAC87265,AAH44801,DAA01462,Q4G0N8,NP_898884,CBH19447 Hs.680112 NHE-10|Na(+)/H(+) exchanger 10|OTTHUMP00000214497|sNHE|sodium/hydrogen exchanger 10|solute carrier family 10 member 10|solute carrier family 9, isoform 10|sperm-specific Na(+)/H(+) exchanger|sperm-specific sodium proton exchanger protein-coding 1354032 SLC9A11 solute carrier family 9, member 11 16344560,12477932 284525 NM_178527,AL139142,CH471067,AK128104,AK302731,BC042592,BX648119,DB071569 NP_848622,CAI20938,EAW90946,EAW90947,EAW90948,BAG54630,BAG63949,AAH42592,Q5TAH2 Hs.494981 MGC43026|RP3-436N22.2 NHE-11|Na(+)/H(+) exchanger 11|sodium/hydrogen exchanger 11|solute carrier family 9, isoform 11 protein-coding 730959 SLC9A2 solute carrier family 9 (sodium/hydrogen exchanger), member 2 1580863 17881426,17561809,16982955,15815621,15664417,12477932,11408268,11350981,11254504,10579058,10444453,10187839,9847074,8901634,1318024,12576672,17943310,8843774,8595899,7683411,19056765,19389806,19479940,20379614 6549 NM_003048,AC007239,CH471127,AA843986,AF073299,AK129936,BC035787,BC136377,BC136378,S83549 NP_003039,AAF19248,EAX01788,EAX01789,AAD41635,AAI36378,AAI36379,AAB50820,O00618,Q9UBY0 Hs.250083 NHE2 NHE-2|Na(+)/H(+) exchanger 2|sodium/hydrogen exchanger 2|solute carrier family 9 (sodium/hydrogen exchanger), isoform 2|solute carrier family 9 member 2 protein-coding 730978 SLC9A3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 727424,1580740,1625672,1625673,1580863,727447 12477932,12397398,12167607,11841999,11408268,10506918,10452823,10364184,9748260,8901634,8843774,8795445,8096830,7631746,1577762,20967843,12542207,16421216,15911629,15754324,15531580,15489334,15342556,15201541,15197272,15070904,14580213,14531806,12799307,12763917,12665801,12576672,19338654,19303862,19056765,18801914,18614797,18433466,18085326,17881426,17540780,17307723,17276988,16971495,16760259,16464174,19913121,20628086,20691413,16159897,16293618,19389806,19473983,19479940,19535329,19772970,19854014,19926819,20080968,20424473 727424,1580740,1625672,1625673,727447 6550 NM_004174,AC010442,AC106772,CH471235,BC011555,BC101669,BC101671,BC143328,BP270851,S83545,U28043 NP_004165,EAW51006,EAW51007,AAI01670,AAI01672,AAI43329,AAB50819,AAB48990,O00617,P48764 Hs.658120 MGC126718|MGC126720|NHE3 NHE-3|Na(+)/H(+) exchanger 3|OTTHUMP00000221424|sodium/hydrogen exchanger 3|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3|solute carrier family 9 member 3 protein-coding 1351479 SLC9A3P solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 8833252,8199403 6551 NG_006095,AL450382 NHE3P|SLC9A3P solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene pseudo 1351319 SLC9A3P2 solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 2 128997 NG_005203,AC007050 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene 2 pseudo 1625826 SLC9A3P3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 3 728990 NG_006098,AL442003 pseudo 1625810 SLC9A3P4 solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 4 389963 NG_006096,AL954360 pseudo 1342625 SLC9A3R1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 Members of the ezrin (VIL2; MIM 123900)-radixin (RDX; MIM 179410)-moesin (MSN; MIM 309845) (ERM) protein family are highly concentrated in the apical aspect of polarized epithelial cells. These cells are studded with microvilli containing bundles of actin filaments, which must attach to the membrane to assemble and maintain the microvilli. The ERM proteins, together with merlin, the NF2 (MIM 607379) gene product, are thought to be linkers between integral membrane and cytoskeletal proteins, and they bind directly to actin in vitro. Actin cytoskeleton reorganization requires the activation of a sodium/hydrogen exchanger (SLC9A3; MIM 182307). SLC9A3R1 is an ERM-binding protein.[supplied by OMIM] 1580863 16236806,9560162,11285285,12471024,9430655,19308292,19234136,19188335,19165527,19139211,19091402,19073137,19034380,18784102,18754678,18588753,18184109,17982258,17911601,17895247,17884816,17613530,17602283,17593079,17332506,17242191,17237149,17081983,17078868,16615918,16519819,16129695,15805108,15489334,15467753,15342556,15302935,15161943,15146197,15070904,14744877,14702039,14608357,14604981,14580213,14531806,14507927,12920119,12830000,12665801,12651858,12626493,12615054,12499563,12477932,12444018,12403779,12369822,12193606,12145337,12080081,12075354,12004055,11967229,11956211,11893083,11882663,11684085,11352585,11304524,11099500,11046132,10980202,10852925,10748165,10562288,10499588,10446210,9677412,9671706,9613608,9314537,9096337,7738182,12954600,12621035,20203292,20442317,20395446,20656684,20736378,20012548,20237154,20404332,20562104,20571032,20801883,11158634,11533036,15020681,15523054,15553237,16456542,18029348,19173579,19581308,19591839,19615732,19912366,20031577,20042604,20140636 9368 BP347679,BX648303,CN286501,CR590385,CR592944,CR604532,CR609447,CR613953,CR620214,CR620434,NM_004252,AC016888,CH471099,AF015926,AF036241,AK026581,AK094467,AK128474,AK312498,BC001443,BC003361,BC011777,BC049220,BC053350,NG_013022 O14745,NP_004243,EAW89189,EAW89190,EAW89191,AAC52084,AAC04572,BAG52871,BAG54683,BAG35400,AAH01443,AAH03361,AAH11777,AAH49220,AAH53350 Hs.396783,Hs.724482 EBP50|NHERF|NHERF1|NPHLOP2 NHERF-1|Na(+)/H(+) exchange regulatory cofactor NHE-RF1|Na+/H+ exchange regulatory co-factor|ezrin-radixin-moesin binding phosphoprotein-50|ezrin-radixin-moesin-binding phosphoprotein 50|regulatory cofactor of Na(+)/H(+) exchanger|sodium-hydrogen exchanger regulatory factor 1|sodium/hydrogen exchanger regulatory factor 1|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1|solute carrier family 9 isoform A3 regulatory factor 1 protein-coding 733001 SLC9A3R2 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 NHE3 (SLC9A3; MIM 182307) is a sodium/hydrogen exchanger in the brush border membrane of the proximal tubule, small intestine, and colon that plays a major role in transepithelial sodium absorption. SLC9A3R2, as well as SLC9A3R1 (MIM 604990) and protein kinase A phosphorylation, may play a role in NHE3 regulation.[supplied by OMIM] 1580741,1580863 11893083,11751930,11285285,11118213,10893422,10748023,10455146,9831664,9671706,9314537,9096337,15642748,11997330,11457882,14531806,14604981,11786550,9748260,9054412,19091402,18029348,17229887,16615918,16166090,15728708,15665527,15616553,15489334,15302935,14623317,12954600,12499563,12477932,12444200,12387817,12369822,12080047,12075354,11948184,20663896,20562104,11099500,12421809,12763866,15523054,15553237,16203867,16456542,19293149,19555689,19615732 1580741 9351 NM_001130012,NM_004785,AB014460,AB016243,AC005600,AC093513,CH471112,AF004900,AF035771,BC014513,BC069014,BC106001,BQ447156,CR593583,CR617760,DB495688,U82108,Z50150 NP_001123484,NP_004776,BAA32696,BAA33216,AAC34208,EAW85563,EAW85564,EAW85565,EAW85566,AAC63061,AAC52090,AAH14513,AAH69014,AAI06002,AAB53042,CAA90511,Q15599,Q6NTG0 Hs.440896 E3KARP|MGC104639|NHE3RF2|NHERF-2|NHERF2|OCTS2|SIP-1|SIP1|TKA-1 NHE3 kinase A regulatory protein E3KARP|Na(+)/H(+) exchange regulatory cofactor NHE-RF2|SRY-interacting protein 1|sodium-hydrogen exchanger regulatory factor 2|sodium/hydrogen exchanger|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2|solute carrier family 9 isoform A3 regulatory factor 2|tyrosine kinase activator protein 1 protein-coding 1606087 SLC9A4 solute carrier family 9 (sodium/hydrogen exchanger), member 4 18311140,17943310,16344560,12576672,8199403 389015 CR627411,DA442134,NM_001011552,AC007278,CH471127,AL833048 CAH10500,Q6AI14,AAI60158,NP_001011552,EAX01790,CAH10600 Hs.447686 DKFZp313B031|NHE4 NHE-4|Na(+)/H(+) exchanger 4|sodium/hydrogen exchanger 4|solute carrier family 9 (sodium/hydrogen exchanger), isoform 4|solute carrier family 9 member 4 protein-coding 732088 SLC9A5 solute carrier family 9 (sodium/hydrogen exchanger), member 5 634199,1643221,1580863 7759094,9933641,19276089,16920332,15699339,14702039,12598940,12576672,12417987,12205089,9933642,12477932 634199,1643221 6553 NM_004594,AC040160,CH471092,U08607,AB209203,AF111173,AK021876,AK091748,AL137689,BC142671,BC144131,BC150207,DB475730 NP_004585,EAW83114,EAW83115,EAW83116,AAA87678,BAD92440,AAC98696,CAB70875,AAI42672,Q14940,Q59GA6,Q9NSW9 Hs.439650 NHE5 NHE-5|Na(+)/H(+) exchanger 5|sodium/hydrogen exchanger 5|solute carrier family 9 (sodium/hydrogen exchanger), isoform 5|solute carrier family 9 member 5 protein-coding 1352693 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger (NHE) that is found in the membranes of intracellular organelles such as mitochondria and endosomes. NHEs participate in a wide array of essential cellular processes, including control of intracellular pH, maintenance of cellular volume, and reabsorption of sodium across renal, intestinal, and other epithelia.[supplied by OMIM] 1580863 12477932,11707463,11279194,10528855,9039502,18057008,9507001,11940519,11641397,19471312,18342287,20130086,20364249,19619532,20395263 10479 NM_006359,AL732579,CH471150,AB074255,AF030409,AK289775,AK296444,AK297218,AK300475,AK314562,AK316255,BC035029,NM_001042537,BC047375,BC049169,D87743,DB483081,R15803,DC308430,NG_017160,NM_001177651 AAH35029,NP_001036002,NP_006350,CAI39923,CAI39924,CAI39925,EAW88481,EAW88482,BAB72002,AAC39643,BAF82464,BAG59095,BAG59701,BAG62192,BAH14626,AAH49169,BAA13449,Q3ZCW7,Q5JPP8,Q86VS0,Q8WYK8,Q92581,NP_001171122 Hs.62185 KIAA0267|MRSA|NHE6 Na(+)/H(+) exchanger 6|OTTHUMP00000024091|sodium/hydrogen exchanger 6|solute carrier family 9 (sodium/hydrogen exchanger), isoform 6|solute carrier family 9 member 6 protein-coding 1350922 SLC9A7 solute carrier family 9 (sodium/hydrogen exchanger), member 7 Organelles of the secretory and endocytic pathways are distinguished by their luminal acidity, which is generated by the activity of an electrogenic vacuolar-type hydrogen ATPase. Progressive acidification of vesicles in the endocytic pathway is essential for the redistribution and degradation of internalized membrane proteins, such as ligand receptor complexes and fluid-phase solutes. This gene is expressed predominantly in the trans-Golgi network, and mediates the influx of sodium or potassium in exchange for hydrogen. It may thus play an important role in maintaining cation homeostasis and function of the trans-Golgi network. This gene is part of a gene cluster on chromosome Xp11.23. [provided by RefSeq] 1580863 11279194,15840657,18654930,15772651,14702039,12477932,11944989,20364249 84679 NM_032591,NG_012622,AL022165,AL050307,AL162583,AL512633,CH471164,AF298591,AK056599,BC094742 NP_115980,CAI43015,EAW59270,EAW59271,EAW59272,EAW59273,AAK54508,BAG51760,Q96T83,AAI57024,CAI43029 Hs.496057 NHE7|SLC9A6 NHE-7|Na(+)/H(+) exchanger 7|nonselective sodium potassium/proton exchanger|sodium/hydrogen exchanger 7|solute carrier family 9 (sodium/hydrogen exchanger), isoform 7|solute carrier family 9 member 7 protein-coding 1317829 SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8 Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM] 19109523,18209477,17881426,17081983,15522866,14702039,12845533,12477932,12409279,12168954,11780052,10231032,20953189,20375273 23315 AL031685,AL162615,CH471077,CQ834456,AB023156,AK124491,AK131001,AK295665,AK295803,AK295822,NM_015266,AK300318,AK308328,AK310530,AL049469,AL833574,BC112213,BX424838,BX430866,CR749638 NP_056081,CAI23460,CAI18970,EAW75647,EAW75648,EAW75649,EAW75650,EAW75651,EAW75652,CAH05443,BAA76783,BAC85475,BAH12147,BAG58621,BAG58639,BAG62070,AAI12214,CAH18432,Q9Y2E8 Hs.444202 DKFZp686C03237|FLJ42500|KIAA0939|MGC138418|NHE8 NHE-8|Na(+)/H(+) exchanger 8|sodium/hydrogen exchanger 8|solute carrier family 9 (sodium/hydrogen exchanger), isoform 8|solute carrier family 9 member 8 protein-coding 1314947 SLC9A9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 1580863 15522866,19268276,18937294,18821565,18649358,17903302,16344560,15489334,14702039,14569117,12477932,20032819,20379614,20732626,20708005 285195 NM_173653,AC016934,AC073242,AC073358,AC107421,AC116423,AC131210,CH471052,AB075486,AB089794,AK092932,AK301816,AK315107,AL832304,AY254100,BC035779,DA387367,AI252807,DB285312,NG_017077 NP_775924,EAW78950,EAW78951,BAE45746,BAD69592,BAC04005,BAG63263,BAG37567,CAI46158,AAP80573,AAH35779,Q8IVB4 Hs.302257 AUTS16|FLJ35613|NHE9|Nbla00118 Na(+)/H(+) exchanger 9|putative protein product of Nbla00118|sodium/hydrogen exchanger 9|sodium/proton exchanger NHE9|solute carrier family 9 (sodium/hydrogen exchanger), isoform 9 protein-coding 1607085 SLCO1A2 solute carrier organic anion transporter family, member 1A2 This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 15553237,19414484,19890249,20051929,20379614,20416077,7557095,9007731,19010908,18695635,18466105,16344560,15832500,15632119,12477932,11238933,10873595,10779507,9539145,9398014,20837016,9328325,19913121,20560925,20635135,20628086,14579113 6579 NM_021094,AC006559,AC022224,AJ400735,CH471094,Y08062,AF085224,AF279784,AK296044,AK316249,BC042452,BC144256,BX093727,NM_134431,DA216595,DA220201,DA322842,DA412674,U21943,DA184882 NP_602307,NP_066580,CAB97006,EAW96422,EAW96423,EAW96424,EAW96425,CAB64372,AAD52694,AAG30037,BAG58808,BAH14620,AAH42452,AAA87732,P46721,Q8IV69 Hs.46440 OATP|OATP-A|OATP1A2|SLC21A3 OATP-1|OTTHUMP00000209605|organic anion transporting polypeptide A|organic anion-transporting polypeptide 1|sodium-independent organic anion transporter|solute carrier family 21 (organic anion transporter), member 3|solute carrier family 21 member 3|solute carrier organic anion transporter family member 1A2 protein-coding 1344263 SLCO1B1 solute carrier organic anion transporter family, member 1B1 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq] 1580863,2316977,2316509 20602615,20635135,20660695,20679960,20712525,18180273,18159134,18154446,17996736,17989996,17973861,17932728,17923851,17906856,17885626,17883959,17766002,17641954,17635496,17622941,17568401,17496208,17473846,17460607,17439540,17415554,17412826,17108811,17047488,16917677,16906022,16847425,16796707,16784736,16758257,16722833,16678545,16678544,16568260,16542205,16534140,16515396,16513443,16198653,16198652,16004557,15961978,15952872,15864131,15864125,15548849,15535988,15519273,15319464,15226675,15116054,12811365,12670950,12490595,12477932,12196548,12130747,11483603,11477075,11134001,10873595,10779507,10644574,10601278,20837016,20839930,20877131,20973885,21072184,20827719,14579113,10358072,19414484,19397531,19390945,19387419,19374892,19349540,19343046,19293444,19244099,19243019,19238654,19238167,19238116,19144951,19129086,19122343,19005461,18854776,18823304,18794729,18781850,18650507,18641915,18558634,18551036,18518855,18499754,18443034,18408565,18399713,18321482,18314419,18221820,18192894,18187595,18185926,19590950,18695635,16255851,19442037,19620935,19642078,19667110,19760661,19771428,19776292,19833260,19842932,19858149,19890249,19901119,19934028,19952871,19956635,20031551,20040338,20051929,20078617,20173083,20175818,20207952,20212519,20347093,20389299,20403997,20514852 2316977,2316509 10599 NG_011745,AC022335,AJ400749,AJ400750,AJ400751,AJ400752,AJ400753,AJ400754,AJ400755,AJ400756,AJ400757,AJ400758,AJ400759,AJ400760,AJ400761,AJ400762,AY945934,CH471094,CQ969227,CS172507,AB026257,NM_006446,AF060500,AF205071,AJ132573,AK312970,BC005243,BC020696,BC054878,BC070172,BC105596,BC114376,GN060123 NP_006437,CAB97007,AAX20114,EAW96420,EAW96421,CAI38410,CAJ33680,BAA78639,AAD38323,AAF20212,CAB62577,BAG35809,AAH20696,AAH54878,AAH70172,AAI05597,AAI14377,Q05CV5,Q0VGM0,Q6NSF9,Q7Z4M3,Q9Y6L6,CAX52185 Hs.449738 LST-1|LST1|MGC133282|OATP-C|OATP1B1|OATP2|OATPC|SLC21A6 OATP-2|liver-specific organic anion transporter 1|sodium-independent organic anion-transporting polypeptide 2|solute carrier family 21 (organic anion transporter), member 6|solute carrier family 21 member 6|solute carrier organic anion transporter family member 1B1 protein-coding 1350750 SLCO1B3 solute carrier organic anion transporter family, member 1B3 1580863,2303132,2303109,2302565,2303111,631887,2316977 20560925,20635135,20639394,20660695,20679960,20720558,18029348,20877131,18509328,11159893,10779507,19343046,19228751,19122334,19074900,18690707,18537956,18519758,18509327,18391951,18321482,18314419,18294295,18180273,18082941,17906856,17760952,17496208,17412826,17186002,16877380,16741617,16534140,15226676,15159445,14739090,14702039,12695556,12477932,12055601,11677211,11375950,14993604,19419973,19442037,19620935,19890249,20051929,20130966,20212519,18695635,20615467,14579113 2303132,2302565,2303111,631887,2316977 28234 NM_019844,AC011604,AJ400763,AJ400764,AJ400765,AJ400766,AJ400767,AJ400768,AJ400769,AJ400770,AJ400771,AJ400772,AJ400773,AJ400774,AJ400776,CH471094,AF187815,AJ251506,AK055874,AY342017,BC022843,BC058006,BC070264,BC105597,CR594924,AJ400775 NP_062818,CAB97008,EAW96413,EAW96414,EAW96415,AAG43445,CAB96997,BAG51590,AAQ19672,AAH22843,AAH70264,AAI05598,Q0VGL9,Q5JAR4,Q6NSD0,Q7Z454,Q9NPD5,AAI41526 Hs.504966 LST-3TM13|LST3|OATP1B3|OATP8|SLC21A8 LST-2|OATP-8|liver-specific organic anion transporter 2|liver-specific organic anion transporter 3TM13|organic anion transporter 8|organic anion transporter LST-3c|organic anion-transporting polypeptide 8|solute carrier family 21 (organic anion transporter), member 8|solute carrier family 21 member 8|solute carrier organic anion transporter family member 1B3 protein-coding 731528 SLCO1C1 solute carrier organic anion transporter family, member 1C1 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 634158,1580863 19290786,19179441,19129463,18845642,18687783,18566113,18410547,18391951,17574004,16357150,16344560,16131319,15667314,15652527,15489334,12477932,12351693,14579113,15553237,20881960 634158 53919 NM_017435,NM_001145944,NM_001145945,NM_001145946,AC092491,CH471094,AF205076,AF260704,AK294333,AK296236,AK303713,AK308729,BC022461,CR594946,DA345251,AL834209 NP_059131,NP_001139416,NP_001139417,NP_001139418,EAW96411,EAW96412,AAG42208,AAF70338,BAH11737,BAH12289,BAH14027,AAH22461,Q5JPA4,Q9NYB5,CAI46209,ABW03661 Hs.47261 OATP-F|OATP1|OATP14|OATP1C1|OATPF|OATPRP5|SLC21A14 OAT-RP-5|OATP-14|organic anion transporter F|organic anion transporter polypeptide-related protein 5|organic anion transporting polypeptide 14|organic anion-transporting polypeptide 14|solute carrier family 21 (organic anion transporter), member 14|solute carrier family 21 member 14|solute carrier organic anion transporter family member 1C1|thyroxine transporter protein-coding 736966 SLCO2A1 solute carrier organic anion transporter family, member 2A1 1580863 20346915,20424473,8787677,17474147,18353443,16344560,16339169,15864125,12477932,9832484,9618293,14579113,20357271,19138942 6578 NM_005630,AB201109,AB201110,AB201111,AC080128,AC117475,AF056732,CH471052,AK303550,AK309561,BC041140,BC051347,BU783445,CR596338,DA592947,U70867 NP_005621,BAE03223,BAE03224,BAE03225,AAC62004,EAW79156,BAH13984,AAH41140,AAH51347,AAC09469,Q4LEJ8,Q4LEJ9,Q92959 Hs.518270 OATP2A1|PGT|SLC21A2 OTTHUMP00000216362|OTTHUMP00000216363|matrin f/g 1|prostaglandin transporter|solute carrier family 21 (prostaglandin transporter), member 2|solute carrier family 21 member 2|solute carrier organic anion transporter family member 2A1 protein-coding 736486 SLCO2B1 solute carrier organic anion transporter family, member 2B1 1580863,2316977 8889548,18501590,19620935,19383542,19343046,19237515,17906856,16908597,16754786,15489334,15226675,14702039,12477932,12409283,12130747,11932330,10873595,10048485,20974993,19940267,20159975,20173083,11159893,14579113,20560925,20635135,20679960 2316977 11309 NM_007256,NM_001145212,NM_001145211,AP001972,CH471076,CQ969225,AB020687,AB026256,AF205073,AK127289,AK127363,AK290234,AK294503,AK296079,AK300134,AK302492,AK304783,AL117465,AL833466,BC041095,CK299190,DC335261,DC362722,FM209049,FM209050,FM209051,FM209052,FM209053,GN060121,DC343392,NG_027921 NP_009187,NP_001138684,NP_001138683,EAW74956,EAW74957,EAW74958,CAI38409,BAA74903,BAA78638,AAG42205,BAF82923,BAG57720,BAG58835,BAG61922,BAG63777,BAG65535,CAB55940,CAH56206,AAH41095,CAR64268,CAR64269,CAR64270,CAR64271,CAR64272,O94956,Q658P4,CAX52184 Hs.7884 DKFZp686E0517|KIAA0880|OATP-B|OATP2B1|OATPB|SLC21A9 OATP-RP2|OATPRP2|organic anion transporter B|organic anion transporter polypeptide-related protein 2|solute carrier family 21 (organic anion transporter), member 9|solute carrier family 21 member 9|solute carrier organic anion transporter family member 2B1 protein-coding 733471 SLCO3A1 solute carrier organic anion transporter family, member 3A1 1580863 14579113,19330903,18521091,16971491,15489334,14702039,14631946,12542534,12495658,12477932,10873595,15553237,18821565,20379614 28232 NM_001145044,NM_013272,AC104020,AC104236,AC113190,AC116903,AC135996,CH471101,CQ969229,AB031050,AF187816,AF205074,AK057031,AK097797,AK290872,AK308463,AK310306,BC000585,FJ515841 NP_001138516,NP_037404,EAX02146,EAX02147,EAX02148,CAI38411,BAA89287,AAG43446,AAG42206,BAG51847,BAG53529,BAF83561,AAH00585,Q9UIG8,ABM82880,ABM86066,ACS13734 Hs.311187 FLJ40478|OATP-D|OATP3A1|OATPD|SLC21A11 OATP-RP3|OATPRP3|PGE1 transporter|organic anion transporter polypeptide-related protein 3|organic anion-transporting polypeptide D|sodium-independent organic anion transporter D|solute carrier family 21 (organic anion transporter), member 11|solute carrier family 21 member 11|solute carrier organic anion transporter family member 3A1 protein-coding 735453 SLCO4A1 solute carrier organic anion transporter family, member 4A1 727314,1580863 19343046,15994332,15489334,15302935,14702039,12915686,12477932,11780052,11316767,10873595,16341674,14579113 727314 28231 GN060127,NM_016354,AL357033,CH471077,CQ969231,AB031051,AF104334,AF187817,AF205072,AI660559,AK000551,AK023410,AK095985,BC015727,BM846201,CR607274,CR616855 CAX52187,NP_057438,CAC14920,CAC14921,EAW75348,EAW75349,EAW75350,EAW75351,CAI38412,BAA89288,AAF15545,AAG43447,AAG42204,BAA91247,BAB14566,AAH15727,Q96BD0,ABM83783,ABM87103 Hs.235782 OATP-E|OATP1|OATP4A1|OATPE|OATPRP1|POAT|SLC21A12 OATP-RP1|OTTHUMP00000031493|colon organic anion transporter|organic anion transporter polypeptide-related protein 1|organic anion transporting polypeptide E|organic anion-transporting polypeptide E|sodium-independent organic anion transporter E|solute carrier family 21 (organic anion transporter), member 12|solute carrier family 21 member 12|solute carrier organic anion transporter family member 4A1 protein-coding 1354473 SLCO4C1 solute carrier organic anion transporter family, member 4C1 SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM] 14579113,20610891,14993604,19197249,19875811,19913121,20628086,20691413 353189 NM_180991,AC008948,AC099515,CH471086,AF119865,AF401643,AK128854,AY273896,BX647349,BX647577,BX647880 NP_851322,EAW49099,EAW49100,AAF69619,AAQ03086,BAC87647,AAP33047,CAH56201,Q63HP3,Q6ZQN7,Q9P181,AAI48352,AAI52990 Hs.127648 OATP-H|OATP-M1|OATP4C1|OATPX|PRO2176|SLC21A20 organic anion transporter M1|solute carrier family 21 member 20|solute carrier organic anion transporter family member 4C1 protein-coding 1316144 SLCO5A1 solute carrier organic anion transporter family, member 5A1 This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 20041166,20379614,12477932,20602915,14702039,12507753 81796 NM_030958,NM_001146008,NM_001146009,AC024680,AC079089,AC091047,CH471068,AA602921,AF205075,AK022760,AK096879,AK299048,AK307567,AK308488,BC016067,BC137424,BC139755,BC144618,CA449383,CR596526 NP_112220,NP_001139480,NP_001139481,EAW86957,EAW86958,AAG42207,BAG51109,BAG53389,BAG61121,AAH16067,AAI37425,AAI39756,Q9H2Y9 Hs.152460,Hs.443609 FLJ39560|OATP-J|OATP-RP4|OATP5A1|OATPRP4|SLC21A15 OATP-RP4|organic anion transporter polypeptide-related protein 4|solute carrier family 21 (organic anion transporter), member 15|solute carrier family 21 member 15|solute carrier organic anion transporter family member 5A1 protein-coding 1353358 SLCO6A1 solute carrier organic anion transporter family, member 6A1 19571808,20379614,12477932,19397531,12677006 133482 NM_173488,AC094108,AC113417,CH471086,AF505657,AK131445,AY273897,BC034976,BM554439,HC044607 NP_775759,EAW49095,EAW49096,EAW49097,EAW49098,AAP30851,BAD18590,AAP33048,AAH34976,Q86UG4,ABM84485,ABM84968,CBH30633 Hs.388874 CT48|GST|MGC26949|OATP6A1|OATPY OATP-I|OTTHUMP00000222644|cancer/testis antigen 48|gonad-specific transporter|organic anion-transporting polypeptide 6A1|organic anion-transporting polypeptide I|solute carrier family 21 member 19|solute carrier organic anion transporter family member 6A1|testis-specific organic anion transporter protein-coding 1349513 SLEB1 systemic lupus erythematosus susceptibility 1 9045876 7833 1346708 SLEB2 systemic lupus erythematosus susceptibility 2 10677248 56179 1344156 SLEB3 systemic lupus erythematosus susceptibility 3 11078476 64695 1348123 SLEH1 systemic lupus erythematosus with hemolytic anemia 1 170682 1351659 SLEN1 systemic lupus erythematosus with nephritis 1 12215904 192677 1349376 SLEN2 systemic lupus erythematosus with nephritis 2 12215904 192679 1347311 SLEN3 systemic lupus erythematosus with nephritis 3 12215904 282849 1342797 SLEV1 systemic lupus erythematosus, vitiligo-related 1 11592035 140652 1605312 SLFN11 schlafen family member 11 11256614,16381901,15489336,15489334,15342556,14702039,12477932,11230166,11076863,9846487,17643375 91607 NM_152270,NM_001104589,NM_001104587,NM_001104588,NM_001104590,AC060766,CH471147,AK074184,AK092241,AL512731,AL831964,BC052586,BM996330,BP245452,BX490030,CB265500 NP_689483,NP_001098059,NP_001098057,NP_001098058,NP_001098060,EAW80156,EAW80157,EAW80158,BAB85010,BAC03835,CAD38606,AAH52586,Q7Z7L1,CAL38551,AAI41661 Hs.462829 FLJ34922|SLFN8/9 OTTHUMP00000163875|schlafen family member 11 protein-coding 1605673 SLFN12 schlafen family member 12 15489334,14702039,12477932,9846487 55106 NM_018042,AC060766,CH471147,AK001122,AK291826,BC035605,BX647081 NP_060512,EAW80154,EAW80155,BAA91512,BAF84515,AAH35605,Q8IYM2 Hs.663548 FLJ10260|SLFN3 OTTHUMP00000163884|schlafen family member 12 protein-coding 2291763 SLFN12L schlafen family member 12-like 20045101,16344560,14569139,9846487,20379614,20800221 342615 AC015911,AK172761,BN000147,DA814276,NM_001195790,NM_001145027 NP_001138499,CAD80167,Q6IEE8,NP_001182719 Hs.447559 schlafen family member 12-like protein-coding 1603573 SLFN13 schlafen family member 13 11256614,16381901,16344560,15489336,14702039,11230166,11076863,9846487,12477932 146857 NM_144682,AC015911,AC060766,CH471147,AK056514,AK074465,AK122750,AK126184,AK127728,AL832726,AL833747,BC136622,BC171771,CR749630,DA720331 NP_653283,EAW80150,EAW80151,EAW80152,EAW80153,BAB71201,BAG53704,BAG54293,CAH56227,AAI36623,AAI71771,CAH18424,Q68D06,CAL37815 Hs.462833 DKFZp666J196|DKFZp686I026|FLJ31952|SLFN10 schlafen family member 13 protein-coding 1602272 SLFN14 schlafen family member 14 12477932,9846487 342618 NM_001129820,AC015911,CH471147,BC140847,BC157877,BC157879,BU658532 NP_001123292,EAW80144,AAI40848,AAI57878,AAI57880,P0C7P3 Hs.591193 schlafen family member 14 protein-coding 1603889 SLFN5 schlafen family member 5 15489334,15342556,14702039,12477932,9846487,20956525 162394 NM_144975,AC022706,AC022916,CH471147,AK054668,AK075116,AK303299,AK303632,AL832814,BC021238,BC125200,BC125201,BP281007,BX102817,BX647942,CD704489 NP_659412,EAW80159,BAB70788,BAG64373,BAG64640,AAH21238,AAI25201,AAI25202,Q08AF3,ABM83860,ABM87182 Hs.709347 MGC150611|MGC150612|MGC19764 schlafen family member 5 protein-coding 1603541 SLFNL1 schlafen-like 1 16710414,15489334,14702039,12477932,16344560 200172 NM_144990,AL391730,CH471059,AK074458,AK097609,AK292296,BC022037,BC037879,BC050353,DB046748,NM_001168247 NP_659427,CAH72798,CAH72799,CAH72800,EAX07187,EAX07188,EAX07189,BAB85090,BAF84985,AAH22037,AAH37879,AAH50353,Q499Z3,NP_001161719 Hs.194609 FLJ23878|MGC43873 OTTHUMP00000006327|OTTHUMP00000006328|OTTHUMP00000006329|schlafen-like protein 1 protein-coding 733848 SLIT1 slit homolog 1 (Drosophila) 68762,634084,737816,2316136 11748139,15207848,16385451,9693030,9813312,10432110,18029348,18829537,17062560,16840550,16713569,16162649,12477932,12200164,12168954,12141424,12107412,10433822,10364234 68762,634084,737816,2316136 6585 NM_003061,AL442123,AL512424,CH471066,AB011537,AB017167,AY029183,BC028105,BC139909,BC146761,BC146851,CD671648,CR617152 NP_003052,CAH70917,CAH70918,CAI14255,CAI14256,CAI14257,CAI14258,CAI14259,EAW49956,EAW49957,EAW49958,EAW49959,BAA32465,BAA35184,AAK31796,AAI46762,AAI46852,O75093,Q5T0V4 Hs.632082 MEGF4|MGC164811|SLIL1|SLIT3|Slit-1 multiple EGF-like domains protein 4|multiple epidermal growth factor-like domains protein 4|slit homolog 1 protein protein-coding 733021 SLIT2 slit homolog 2 (Drosophila) 634084,1580863,2316127,2316132 16636676,16439689,16162649,15489334,14702039,14645233,12881718,12615722,12477932,12384551,12200164,12141424,11404413,11375980,11309622,11239147,11222645,10975526,10864954,10575218,10364234,10349621,10102266,12941633,17268810,16840550,10102268,10197527,9813312,10432110,10102269,15130495,19351956,19350278,19100240,19048120,18829537,18611862,18269211,17968499,17903301,17848514,17609981,17496152,17448996,19913121,20375003,20628086,20153733,20438712,20944010,10892742,11748139,15207848,17062560,18345009,18566128,19005219,19033678,19498462,19550140,19706539,19759280,19851296,19855388,20008733,20029409,20068157,20198315,20379614 634084,2316127,2316132 9353 AC021118,AC092577,AC096718,AC108011,CH471069,AB017168,AF055585,AF133270,AK027326,AK126459,AK308444,BC117190,BC143978,NM_004787 NP_004778,AAY41010,AAY41008,EAW92792,EAW92793,BAA35185,AAD04309,AAD25539,BAG51304,AAI17191,AAI43979,O94813,Q4W5K2,Q4W5N0 Hs.29802 FLJ14420|SLIL3|Slit-2 OTTHUMP00000217852|OTTHUMP00000217853|OTTHUMP00000217854|slit homolog 2 protein protein-coding 733245 SLIT3 slit homolog 3 (Drosophila) 68762,634084,1580863,2316136 11748139,15207848,18566128,19741192,20163849,20379614,20298552,9813312,10349621,19240061,19228371,18829537,18628988,16840550,16162649,15231749,14702039,12975309,12477932,12358155,12141424,11754167,11443047,9693030,20881960 68762,634084,2316136 6586 AC008409,AC008479,AC011365,AC011389,AC027311,AC094081,AC112165,CH471062,NM_003062,AB011538,AB017169,AF075240,AF086552,AI741785,AK001626,AK310549,AL122074,AY358884,BC098388,BC142665,BC142717,BC146759 AAQ89243,EAW61499,EAW61500,NP_003053,EAW61501,BAA32466,BAA35186,AAD19336,CAB59249,AAI46760,O75094 Hs.604116 FLJ10764|MEGF5|SLIL2|SLIT1|Slit-3|slit2 multiple EGF-like domains protein 5|multiple epidermal growth factor-like domains protein 5|slit homolog 3 protein protein-coding 1318872 SLITRK1 SLIT and NTRK-like family, member 1 Members of the SLITRK family, such as SLITRK1, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, but not SLITRK1, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 19240061,19018236,18722020,18698576,18413575,18021920,18004766,17712845,17671968,17083340,17035247,17003809,16936762,16323357,16224024,15489334,15057823,14557068,14550773,12975309,12477932,11572484,20351724 114798 NG_016748,NM_052910,AL355481,CH471093,AB067497,AK299479,AY358289,BC051738 NP_443142,CAC37488,EAW80608,BAB67803,BAG61443,AAQ88656,AAH51738,Q96PX8 Hs.415478 FLJ54428|KIAA0918|KIAA1910|LRRC12|RP11-395N17.1|TTM SLIT and NTRK-like protein 1|leucine-rich repeat-containing protein 12|slit and trk like gene 1 protein-coding 1344547 SLITRK2 SLIT and NTRK-like family, member 2 Members of the SLITRK family, such as SLITRK2, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK2, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 19488044,16344560,15772651,15489334,14702039,14557068,12975309,12477932,11347906,8889548,20237496,20479760 84631 NM_001144005,NM_001144003,NM_001144004,NM_001144008,NM_001144006,NM_001144010,NM_001144009,AL109653,CH471175,Y19205,AB058757,AK091015,AK096278,AK289732,BC113011,BC113012,BM669862,CR627412,DA184412,DA239165,DA332123,NM_032539,DA411897,DA234617,DA412276,DA496247,NG_016477 NP_115928,NP_001137477,NP_001137475,NP_001137476,NP_001137480,NP_001137478,NP_001137482,NP_001137481,CAC18888,CAI41645,EAW53953,EAW53954,CAC80724,BAB47483,BAC03566,BAG53246,BAF82421,AAI13012,AAI13013,CAH10501,Q6AI13,Q9H156 Hs.320368 CXorf2|DKFZp451E1911|KIAA1854|MGC129912|MGC129913|SLITL1 OTTHUMP00000024190|OTTHUMP00000024191|SLIT and NTRK-like protein 2|slit and trk like gene 2|slit-like 1 protein-coding 1321448 SLITRK3 SLIT and NTRK-like family, member 3 Members of the SLITRK family, such as SLITRK3, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK3, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 19336002,14557068,14550773,12477932,10048485,20237496 22865 NM_014926,AC013458,CH471052,AB020655,AK290024,BC040491,BC114621 NP_055741,EAW78599,BAF82713,AAI14622,O94933,BAA74871 Hs.101745 KIAA0848|MGC138681 OTTHUMP00000212598|SLIT and NTRK-like protein 3|slit and trk like gene 3 protein-coding 1348582 SLITRK4 SLIT and NTRK-like family, member 4 Members of the SLITRK family, such as SLITRK4, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK4, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 737633,1580863 14550773,16344560,15489334,14702039,14557068,12477932 737633 139065 AI286228,DA774595,DA802760,NG_021344,NM_001184749,NM_001184750,NM_173078,AL080239,CH471170,AK057619,AK092016,AK315044,AL713693,BC040986 NP_001171678,NP_001171679,NP_775101,CAI41650,EAW78020,BAB71535,BAG37525,CAD28493,AAH40986,Q8IW52 Hs.272284 DKFZp547M2010 SLIT and NTRK-like protein 4|slit and trk like gene 4 protein-coding 1322151 SLITRK5 SLIT and NTRK-like family, member 5 Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 16212419,15489334,15057823,14702039,14557068,14550773,12477932,10048485 26050 NM_015567,AL603883,CH471085,AB020725,AK024251,AK299744,AW449813,BC098106,BC098287,BC103497,BC103509 NP_056382,CAH73026,EAX08917,BAA74941,BAG51280,BAG61637,AAH98106,AAH98287,AAI03510,O94991,Q4QQH1 Hs.591208 FLJ58374|KIAA0918|LRRC11|bA364G4.2 SLIT and NTRK-like protein 5|leucine rich repeat containing 11|leucine-rich repeat-containing protein 11|slit and trk like gene 5 protein-coding 1315229 SLITRK6 SLIT and NTRK-like family, member 6 Members of the SLITRK family, such as SLITRK6, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK6, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 16381901,15489336,15489334,15057823,14702039,14557068,12477932,11230166,11076863 84189 NM_032229,AL162373,CH471093,CQ860409,BQ772084,BX648640,CD687435,CQ860417,CQ861063,AK021931,AK026427,AK292793,AL137517,BC101070,BC101071,BC101072,BC101073,CQ860411,FB326355 CAH68812,AAI01074,NP_115605,EAW80611,CAH10557,Q9H5Y7,CAL38445,CAH68813,CAH68816,CAH25964,BAB13941,BAB15480,BAF85482,CAB70783,AAI01071,AAI01072,AAI01073,CAR82286 Hs.525105 MGC119595|MGC119596|MGC119597 4832410J21Rik|SLIT and NTRK-like protein 6|slit and trk like gene 6 protein-coding 733761 SLK STE20-like kinase (yeast) 2304069 16385451,18029348,19525980,19615732,15164054,12477932,12421765,11316611,11149944,10699464,10611247,9039502,3526554,14531806,18287541,17321610,17081983,16837460,15489334 2304069 9748 FB775502,NM_014720,AL138761,AL360170,CH471066,AB002804,AF273048,AK302855,AK307389,BC008697,BC036736,BC047762,BC047885,BC064804,BC111565,D86959,EF139853 CAV30708,NP_055535,CAI12395,CAI12396,CAH70403,CAH70404,EAW49615,EAW49616,EAW49617,EAW49618,BAA19655,AAG34908,BAG64041,AAH47762,AAH47885,AAH64804,AAI11566,BAA13195,Q9H2G2 Hs.591922 KIAA0204|LOSK|MGC133067|STK2|bA16H23.1|se20-9 CTCL tumor antigen se20-9|Long Ste20-like Kinase|SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase|SNF1 sucrose nonfermenting like kinase|STE20-like serine/threonine-protein kinase|STE20-related kinase|STE20-related serine/threonine-protein kinase|Ste20-related serine/threonine kinase|hSLK|serine/threonine kinase 2|serine/threonine-protein kinase 2 protein-coding 1317000 SLMAP sarcolemma associated protein 9405447,17081983,15489334,14702039,12975309,12477932,11042152,10997877,10986292,17353931,18029348,18782753,19615732 7871 NM_007159,AC099777,AC114480,CH471055,AB046821,AF100750,AF304450,AK022561,AK124200,AL834538,AY358410,BC114627,BC115701,CR627321,AK300106,AK302934,AK304493,AK316436 NP_009090,EAW65347,EAW65348,EAW65349,EAW65350,BAB13427,AAD43014,AAG41949,BAC85803,CAD39194,AAQ88776,AAI14628,AAI15702,CAH10369,Q14BN4,BAH13213,BAH13849,BAH14200,BAH14807 Hs.476432 FLJ42206|KIAA1601|MGC138760|MGC138761|SLAP OTTHUMP00000165233|Sarcolemmal-associated protein|sarcolemmal membrane-associated protein protein-coding 1315398 SLMO1 slowmo homolog 1 (Drosophila) 737633 20877624,16344560,14702039,12477932 737633 10650 NM_006553,NM_001142405,AP001029,CH471113,AF048849,AK056046,AK303325,AL359942,BC106750,BT007092,CA446199,CR627465,DB018070,BC007528,EF444975 NP_006544,NP_001135877,EAX01547,EAX01548,EAX01549,EAX01550,AAC05143,BAB71083,BAG64391,CAB95773,AAI06751,AAP35755,CAH10669,Q96N28,Q9NPW1,ACA05988 Hs.514718 C18orf43|DKFZp547K106|FLJ31484|HFL-EDDG1|MGC120170|PRELID3A chromosome 18 open reading frame 43|erythroid differentiation and denucleation factor 1|protein slowmo homolog 1 protein-coding 1345443 SLMO2 slowmo homolog 2 (Drosophila) 10810093,15489334,14702039,12477932,11780052,20877624 51012 NM_016045,AL109840,CH471077,AF151865,AK002157,AK314449,BC010649,BC013969,CO248221,AK298135 NP_057129,CAC09373,EAW75442,EAW75443,AAD34102,BAA92114,AAH10649,AAH13969,Q9Y3B1,BAG60414 Hs.726261 C20orf45|PRELID3B|dJ543J19.5 chromosome 20 open reading frame 45|protein slowmo homolog 2 protein-coding 1313124 SLN sarcolipin Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq] 1580863 9367679,17515962,17010328,15342556,12692302,12645548,12477932,12032137,11781085,11772399,9575189,8681137,19913121,20628086 6588 NM_003063,AP002353,CH471065,U96093,AK312097,BC005261,BC094685,BC104150,BC104185,BC113930,BC113987,BP233121,CR450290,U96094 NP_003054,EAW67094,AAB86980,BAG35033,AAH05261,AAH94685,AAI04151,AAI04186,AAI13931,AAI13988,CAG29286,AAB86981,O00631,Q6ICV3 Hs.334629 MGC12301|MGC125854|MGC125855 sarcolipin protein-coding 1350976 SLPI secretory leukocyte peptidase inhibitor This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes; the protein is also thought to have broad-spectrum anti-biotic activity. [provided by RefSeq] 1580863 19271144,19900269,20047904,20068074,19039956,19333378,19254589,19154415,19095674,18976018,18688858,18667508,18425362,18285402,18173453,18075823,17964057,17878156,17371258,16776851,16384861,16355004,16015083,15812165,15650263,15492784,15489334,15315966,15248236,15167969,15155685,15039364,15039315,15020232,15015603,12934194,12874244,12819058,12759437,12732717,12526812,12351521,12206714,12183536,12023969,12023766,11912282,11868825,11817677,11780052,11759111,11667971,11435427,10869562,10833481,10704052,10702419,10355635,9843921,8573092,7539415,7515550,3640338,3533531,3485543,3462719,3366116,3060147,2110563,2039600,1674946,16928883,15858026,12477932,12355371,20378727,18953959 6590 AL035660,CH471077,CS106326,M74444,X04502,AF114471,AK312192,BC020708,X04470,X04503,NM_003064,CS566122,GN341838 NP_003055,CAB64235,EAW75869,CAJ01313,AAA60559,CAA28187,AAD19661,BAG35125,AAH20708,CAA28158,CAA28188,P03973,Q6LDI0,ABM82291,ABM85471,CAN37611,CAY39338 Hs.517070 ALK1|ALP|BLPI|HUSI|HUSI-I|MPI|WAP4|WFDC4 HUSI-1|WAP four-disulfide core domain 4|WAP four-disulfide core domain protein 4|antileukoproteinase|mucus proteinase inhibitor|protease inhibitor WAP4|secretory leukocyte protease inhibitor (antileukoproteinase)|seminal proteinase inhibitor protein-coding 1605637 SLTM SAFB-like, transcription modulator 19086053,14702039,12477932,21182207 79811 NM_001013843,AC025918,AC090515,CH471082,AI215187,AI745094,AK000867,AK023275,AK024710,AK055195,AK131242,AK291423,AL834297,AW205376,BC014944,BC040120,BC046119,NM_024755,BC108656,BC140851,CD688133,CR612238,CR613449 AAH46119,NP_079031,NP_001013865,EAW77550,EAW77551,EAW77552,EAW77553,BAA91401,BAB14502,BAB14971,BAG51484,BAF84112,CAH56362,AAH14944,AAI08657,AAI40852,Q9NWH9 Hs.512932 DKFZp762G052|FLJ10005|FLJ13213|Met OTTHUMP00000082630|SAFB-like transcription modulator|modulator of estrogen induced transcription|modulator of estrogen-induced transcription protein-coding 1606825 SLU7 SLU7 splicing factor homolog (S. cerevisiae) Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. 15728250,10197984,15181151,17804646,16344560,16189514,12477932,11238888,10647016 10569 NM_006425,AC091842,CH471062,AF101074,AK000813,AK024875,AK314564,AY486334,BC010634,BE221264,CA976106,CR615944,DA232975,DA409854,DQ174516,DQ174517 NP_006416,EAW61554,EAW61555,EAW61556,AAD13774,BAG37147,AAS59410,AAH10634,ABA08382,ABA08383,O95391,ABM81963,ABM85142 Hs.435342 9G8|MGC9280|hSlu7 pre-mRNA-splicing factor SLU7|splicing factor|step II splicing factor SLU7|zinc knuckle motif containing protein-coding 1346067 SLURP1 secreted LY6/PLAUR domain containing 1 The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq] 1599051,1580863 8742060,11285253,14506129,14721776,18764860,17643396,16354194,15909066,15489334,14756676,14674887,12787122,12603845,12483299,12477932,10211827,19692209,20237496,9887370,20621062,20337899,20660165 1599051 57152 NM_020427,NG_011494,AC083841,CH471162,X99977,AY579079,AY579080,BC069292,BC105133,BC105135 NP_065160,EAW82308,CAA68237,AAT01436,AAT01437,AAH69292,AAI05134,AAI05136,P55000 Hs.103505,Hs.676358 ANUP|ARS|ArsB|LY6LS|MDM ARS(component B)-81/S|SLURP-1|anti-neoplastic urinary protein|lymphocyte antigen 6-like secreted|secreted Ly-6/uPAR-related protein 1|secreted Ly6/uPAR related protein 1 protein-coding 1606824 SMA3 SMA3 7977382,14702039,12477932 10571 Q15486 NM_006780,AC108108,AC131392,AC138827,AC139277,AC140134,AL009030,AK094021,BC002622,BC050737,X83299 NP_006771,CAC69829,CAC69830,AAH50737,CAA58278,Q15486,ABM82829 Hs.654587 FLJ36702|b55C20.2 protein-coding 1605403 SMA4 glucuronidase, beta pseudogene 15489334,15372022,14702039,12477932,7977382 11039 NG_006084,AC108108,AC138866,AK094021,AK097091,AK289832,AK315849,BC131740,X83300,AC140134,BC067830,NG_006962,NR_029426 BAF82521,BAF98740,CAA58279,AAI40017,AAI40018,ABM82829,ABM84660,ABM86015 Hs.652536,Hs.654588,Hs.582500 FLJ36702|FLJ39772|MGC22265|MGC60382|SMA3|b55C20.2 pseudo 1605402 SMA5 glucuronidase, beta pseudogene 8565635,7977382,7680524,12477932 11042 AC146944,AK289851,BC070286,X83301,NR_034021,AC108108,AC138827 BAF82540,CAA58280 Hs.529793,Hs.652536 pseudo 1345916 SMA@ spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) 7813012 6592 1353457 SMAD1 SMAD family member 1 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 1643224,1643228,1643229,1643233,1643234,1643235,1643222,1643227,2299978,1580077,1580863 20522807,9111321,8653785,10708949,19018011,15621726,9759503,8663601,9436979,17356069,10647776,11121043,19513897,19453261,19424179,19269967,19247629,19244313,19224917,19211612,19056927,18775991,18769113,18684712,18668566,18393632,18321803,18310319,18184649,17963781,17948051,17847004,17496924,17455258,17452325,17392271,17359969,17043655,16990609,16931515,16621789,16436528,16412560,16326713,16247476,15911698,15877825,15781469,15761153,15708501,15613244,15542835,15516492,15489854,15489334,15246821,15231748,14732718,14702039,14701756,14633973,14630787,14500836,12874272,12821673,12650946,12649288,12519765,12477932,12426322,12370310,12354674,12167862,12097147,11811554,11779505,11700304,11483516,11451566,11438941,11387330,11278251,11239394,11163184,11158580,11139569,11118211,11016919,10890911,10887155,10708948,10673036,10660046,10652350,10583507,10400705,10400677,10224145,10205054,10085121,9843199,9748228,9393997,9335505,9335504,9136927,9006934,8893010,8774881,8673135,8637600,9256479,10531362,10962029,10199400,12743038,12714599,10497242,12944489,20211142,20734064,20819778,21068203,20388715,20460105,14612411,15221015,16613856,12904571,15107829,15647271,16087734,17183365,17292623,19819941,19914168,19959123,19996292,9389648,16611643,20565840,20634891 1643224,1643228,1643229,1643233,1643234,1643235,1643222,1643227,2299978,1580077 4086 NM_005900,NM_001003688,AC093796,AL117396,CH471056,AK096624,AK293055,BC001878,BE644607,BI772689,BI792941,BQ962660,BT007386,BU163870,CB956339,CR611301,U54826,U57456,U59423,U59912,HI961647 Q9UFT8,ABM86650,NP_005891,NP_001003688,CAB55898,EAX05037,EAX05038,EAX05039,EAX05040,BAF85744,AAH01878,AAP36050,AAC50493,AAC50621,AAB06852,AAC50790,Q15797,ABM83436,CBY84968 Hs.604588 BSP1|JV4-1|JV41|MADH1|MADR1 BSP-1|MAD homolog 1|MAD, mothers against decapentaplegic homolog 1|Mad-related protein 1|OTTHUMP00000220456|SMAD 1|SMAD, mothers against DPP homolog 1|TGF-beta signaling protein 1|hSMAD1|mothers against DPP homolog 1|mothers against decapentaplegic homolog 1|smad, mothers against dpp homolog 1 (drosophila)|transforming growth factor-beta signaling protein 1|transforming growth factor-beta-signaling protein 1 protein-coding 1347299 SMAD2 SMAD family member 2 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] 1559169,2299974,2306282,2298922,2300007,2302517,2299962,2299970,2299973,2299967,2299968,2299964,2308865,1599906,1599900,1580863 18729074,16437159,11438668,11387330,11387212,11371641,11359933,11278756,11278302,11274206,11264182,11229886,11163184,11160896,11118211,11114293,11094085,11058129,11043574,11042172,11027280,11016919,10890911,10887155,10863401,10825365,10823886,10819637,10757800,10708949,10708948,10678166,10647776,10615055,10531362,10531062,10505717,10485843,10420150,10400677,10220381,10199400,10197981,9892009,9873005,9843199,9820171,9759503,9702197,9679056,9525694,9503010,9346908,9288972,9214507,9136927,9092546,9006934,8893010,8889549,8861901,8774881,8673135,8617505,16179804,11389444,18783722,12794086,12419246,11102446,10938097,9858566,16362038,12815042,12714599,12165866,12426322,15761148,10575014,14612425,10497242,15817471,18974875,19032343,20211142,20734064,21052639,21068203,16027725,20852387,20607798,19827952,20347004,21095583,9311995,9111321,8752209,8980228,17438144,9702198,9256479,9389648,19122240,19018011,14555988,9436979,9865696,11100470,10549282,19453261,19429239,19351817,19289081,19211612,19201832,19104148,19066393,18983975,18955504,18949743,18826955,18648910,18618014,18616749,18568018,18511908,18482992,18393632,18263591,18223258,18210139,18166170,18082619,17875924,17729405,17601799,17591701,17427197,17365852,17295676,17292826,17217620,17142261,17081983,17053951,17035229,16924420,16645187,16556868,16478646,16403803,16344560,16260601,16253118,16146757,16055724,16007227,15811425,15799969,15761153,15750622,15735739,15665291,15613484,15599395,15520018,15496141,15494412,15489854,15489334,15356634,15326485,15308665,15280432,15241418,15231748,15218362,15166010,15144564,15084259,15066998,14728725,14727154,14702039,14691252,14612439,14531804,12894231,12874272,12760775,12743038,12732139,12650946,12618756,12615364,12531695,12477932,12393416,12370310,12354674,12202987,12193595,12191474,12191473,12170265,12167862,12150994,12105419,12097320,12034739,12034730,12023901,12000714,11879191,11804592,11779503,11691834,11555647,20462450,17711623,20460105,12411310,12764135,12904571,14701756,15107821,15350224,15647271,16087734,16200078,16751101,16806156,17099224,17292623,17591695,17878231,17927854,19049980,19135894,19345189,19397700,19421146,19558215,19620243,19688145,19751112,19819941,19822523,19917253,19951945,20010874,20011542,20086175,20346360,20350217,20453000,9732876,20589678,20634891 1559169,2299974,2306282,2298922,2300007,2302517,2299962,2299970,2299973,2299967,2299968,2299964,2308865,1599906,1599900 4087 NM_001135937,NM_001003652,NM_005901,AC120349,CH471096,U78733,AA081871,AA418737,AF027964,AI087928,AI765747,AK126373,AK299218,AK312963,AY134745,BC014840,BC025699,BI258844,BQ018815,BQ900993,BT007422,BU167620,BU517178,BX491944,CR592338,CR595841,CR621595,DB035686,DB462454,DC371139,U59911,U65019,U68018 NP_001129409,NP_001003652,NP_005892,EAW62914,EAW62915,EAW62916,EAW62917,AAC39657,AAC51918,BAH12971,BAG35802,AAN08619,AAH14840,AAH25699,AAP36090,AAC50789,AAB17054,AAB17087,Q15796,Q53XR6,Q7Z5E4,ABM82427,ABM84458,ABM84672,ABM85619 Hs.12253,Hs.705764 JV18|JV18-1|MADH2|MADR2|MGC22139|MGC34440|hMAD-2|hSMAD2 MAD homolog 2|MAD, mothers against decapentaplegic homolog 2|Mad protein homolog|Mad, mothers against decapentaplegic homolog 2|Mad-related protein 2|SMAD 2|SMAD, mothers against DPP homolog 2|Sma- and Mad-related protein 2|mother against DPP homolog 2|mothers against DPP homolog 2|mothers against decapentaplegic homolog 2|smad, mothers against dpp homolog 2 (drosophila) protein-coding 1343311 SMAD3 SMAD family member 3 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq] 1559169,1625706,2306282,2300396,2298922,2299970,1599906,1599900 9311995,8774881,9111321,9732876,15799969,19122240,10823886,15107418,14555988,15334054,19018011,12411310,9865696,11100470,10549282,19468687,19453261,19394554,19351817,19336575,19289081,19265200,19263472,19255064,19252133,19247629,19218245,19211612,10531362,16362038,12874272,14988407,12714599,15561701,12426322,15688032,10575014,15496141,15781469,16876108,18974875,19032343,20211142,20599907,20734064,20738937,20819778,20860503,21068203,16027725,16247473,16285943,21095583,15221015,16423881,16619037,21102463,17908958,17875924,17786540,17657819,17653079,17638910,17634449,17623674,17601799,17591701,17591695,17476473,17471513,17279001,17230494,17197157,17142261,17074765,17053951,17035229,16924420,16886151,16849317,16828225,16785237,16754688,16556868,16543220,16528675,16449645,16413503,16403803,16344560,16253118,16223572,16187293,16156666,16007227,15917296,15907489,15881652,15845540,15798217,15761153,15750622,15735739,15665291,15629128,15623506,15527767,15520018,15494412,15489334,15464984,15356634,15326485,15308665,15247277,15241418,15240101,15231748,15198928,15166010,15150273,15144564,15138260,15084259,15066998,15051726,15044214,15001984,14966294,14727154,12524424,12483531,12477932,12393612,12393416,12370310,12270924,12226080,12202987,12191474,12167862,12165866,12161532,12161428,12154125,12150994,12099698,12097320,12023901,12000714,11804592,11711431,11707452,11691834,11590145,11555647,11438668,11432852,11427533,11387330,11387212,11359933,11280774,11278756,11278251,11274402,11163184,11118211,11114293,11094085,11058129,11042152,11027280,11016919,10995777,10973944,10962029,10942775,10903323,10890911,10878024,10846168,10757800,10708949,10708948,10681527,10647776,10601313,10557285,10531062,10518526,10497242,10400677,10220381,10197981,10085140,10037600,9858566,9843199,9759503,9753318,9741623,9665135,9464505,9380693,8889548,8673135,7958925,7958924,16750572,12202226,18495657,18172167,11389444,18950738,9892009,12794086,12419246,14691252,14657019,14651998,14647420,14638857,14633126,14630914,14623893,14612439,14557482,14531804,14525983,14512875,12939660,12917425,12917407,12902338,12857746,12847691,12815042,12760775,12759229,12758167,12743038,12732139,12718878,12650946,12631740,12618756,12615364,12551947,12543979,12531695,19129849,19106105,19101551,19066393,19064572,19013433,18955504,18826955,18794808,18791848,18776948,18768831,18729074,18568018,18505915,18482992,18445023,18393632,18384750,18333754,18263591,18250161,18245174,18223258,18210139,18203713,18174246,18174158,18166170,18095154,18082619,18078810,18055455,17994767,17934056,17920062,20222112,20607798,12446380,12904571,12963786,14603262,14701756,15350224,15647271,15897867,16200078,16751101,17099224,17264880,17292623,17469184,17474147,17927854,18095113,18832382,19041414,19049980,19135894,19345189,19375841,19421146,19458083,19461048,19589780,19595713,19616922,19620243,19693466,19751112,19768112,19819941,19822523,19917253,19951945,19959123,20010874,20037158,20070253,20093492,20097766,20142324,20346360,20379614,20463300,20506137,20739403,20547485,20102559,20634891,20694560 1559169,1625706,2306282,2300396,2298922,2299970,1599906,1599900 4088 NM_005902,NM_001145102,NM_001145103,NM_001145104,NG_011990,AB004930,AC012568,AC087482,AF025300,CH471082,AA493306,AB209616,AF151027,AI762628,AI991957,AK026690,AK290881,AK298139,AK300614,AK301348,AK313812,AK316017,AL110265,BC000414,BC007496,BC050743,BE905995,BF058230,BG251847,BM551682,BM722372,BQ917888,BX506233,CR457386,CR749287,DA453132,DA755047,DA977882,U68019,U76622 NP_005893,NP_001138574,NP_001138575,NP_001138576,BAA22032,AAL68976,EAW77788,EAW77789,EAW77790,EAW77791,BAD92853,AAF36113,BAF83570,BAH12731,BAH13315,BAH13461,BAG36548,BAH14388,AAH50743,CAG33667,CAH18142,AAB80960,AAB18967,P84022,Q59F45,Q68DS8,Q9P0T0,ABZ92016 Hs.718953 DKFZp586N0721|DKFZp686J10186|HSPC193|HsT17436|JV15-2|MADH3|MGC60396 MAD homolog 3|MAD, mothers against decapentaplegic homolog 3|SMA- and MAD-related protein 3|SMAD, mothers against DPP homolog 3|hMAD-3|hSMAD3|mad homolog JV15-2|mad protein homolog|mad3|mothers against DPP homolog 3|mothers against decapentaplegic homolog 3|smad, mothers against dpp homolog 3 (drosophila) protein-coding 1352527 SMAD4 SMAD family member 4 734492,2299975,2299968,2299976,2299980,2300007,2306282,2298922,2300005,2299979,2299972,2299973,2300009,2299981,2299966,2308865,1599906,1599898,1599899,1599900,1580863 20682989,15855639,15846069,15817471,15814640,15799969,15761153,15736060,15735739,15708501,15637079,15592526,15531914,15489334,15367885,15280432,15240101,15235019,15231748,15173084,15166010,15157044,15107966,15084259,15069531,15063137,15042598,15033661,15031030,15028714,15014009,14988407,14966294,14766211,14727154,14715079,14701756,14691252,14671321,14669329,14647445,14647410,14639103,14633973,14630914,14630787,14612439,14607700,14557482,14555988,14525983,14514699,12952364,12917407,12894231,12857746,12813045,12802277,12801888,12794086,12758167,12740389,12720172,12700666,12650946,12631740,12629129,12621041,12618756,12576474,12569386,12551947,12548549,12543979,12531695,12524424,12477932,12429655,12419246,12417513,12414627,12374795,12370310,12226080,12209716,12202987,12202226,12191474,12167862,12150994,12136244,12116240,12099698,12097320,12077092,12023040,12010891,12000714,11920286,11866987,11836524,11818334,11783110,11741830,11700304,11571638,11555647,11432852,11387330,11278302,11274206,11265759,11224571,11163184,11160896,11114293,11042172,11027280,10995777,10980615,10942775,10896788,10890911,10887155,10878024,10871368,10708949,10708948,10660046,10647776,11401430,10647180,10636916,10557285,10531062,10400705,10398437,20797318,20012971,16865698,20404275,19032343,20211142,20235236,20682711,20734064,21036691,21068203,20577838,21095583,8774881,9111321,9311995,9732876,17438144,9389648,15621726,10823886,9707553,12411310,10549282,11121043,19527492,19453261,19351817,19321257,19284991,19273710,19270816,19270646,19247629,19211612,19144825,19064568,18985820,18949401,18823382,18664273,18620728,18568018,18519681,18519565,18505344,18471510,18425078,18413775,18321803,18310088,18310076,18213629,18178612,17997817,17994767,17875924,17873119,17854080,17847004,17659731,17643425,17601799,17591695,17478078,17476473,17469085,17436386,17390050,17353364,17301079,17200344,17167985,17151782,17132729,17053951,17043799,17023741,17016646,16959612,16953227,16754688,16627986,16613914,16478646,16436638,16344560,16288847,16223572,16189514,16172383,16146757,16135802,16082587,16007227,15940269,15886208,15881652,15867212,10224145,10220381,10085140,9892009,9843571,9843199,9811934,9759503,9741623,9679056,9582123,9288972,9285560,9214508,9098646,8889548,8653691,8564959,8553070,7958925,7958924,18783722,11264182,11102446,10531362,10199400,9256479,11278756,12874272,16362038,10583507,10846168,12483531,12815042,15561701,10575014,15592428,15820681,19538865,20565773,14612411,15314162,20734429,20862427,12161428,12904571,15350224,15781469,17099224,17469184,18029348,19135894,19266212,19328798,19341727,19463221,19548527,19558215,19584151,19626374,19686287,19688145,19690946,19730683,19752858,19834456,19841536,19856310,19916025,19996292,20101697,20118412,20142324,20165854,20200332,20237276,20307265,20346360,20350217,8861901,9482899,9660945,20622003,19183329,19913121,20473902,20628086,20634891 734492,2299975,2299968,2299976,2299980,2300007,2306282,2298922,2300005,2299979,2299972,2299973,2300009,2299981,2299966,2308865,1599906,1599898,1599899,1599900 4089 NM_005359,AB043547,AC091551,AF045447,CH471096,AK290770,AU120224,BC002379,BM701399,BX647129,U44378,NG_013013 NP_005350,BAB40977,AAC03051,EAW62985,EAW62986,EAW62987,BAF83459,AAH02379,AAA91041,Q13485,Q9BYG6,ABM82766,ABM85954 Hs.75862 DPC4|JIP|MADH4 MAD homolog 4|MAD, mothers against decapentaplegic homolog 4|OTTHUMP00000163548|SMAD 4|SMAD, mothers against DPP homolog 4|deleted in pancreatic carcinoma locus 4|deletion target in pancreatic carcinoma 4|hSMAD4|mothers against DPP homolog 4|mothers against decapentaplegic homolog 4|mothers against decapentaplegic, Drosophila, homolog of, 4|smad, mothers against dpp homolog 4 (drosophila) protein-coding 1349958 SMAD5 SMAD family member 5 1580755,2299978,1580077,1580863 12060751,9748228,11451570,11451566,11278410,11278251,11163184,10708948,10652350,10647776,10583507,10504300,10400677,10049768,17207965,20734064,8673135,10708949,19018011,15621726,9759503,9436979,17356069,11121043,19269967,19247629,19211612,18775991,18684712,18393632,18310319,18298822,17847004,17359969,17081983,16436528,16247476,16243555,15877825,15489334,15246821,15231748,15107829,14702039,14670176,12849988,12649288,12477932,12473652,12370310,12064918,9484787,9442019,9288787,9264367,18641638,10531362,12714599,15647271,16087734,19244313,19819941,20522807,20148926 1580755,2299978,1580077 4090 NM_001001419,NM_005903,NM_001001420,AC009014,AF009744,AF010607,CH471062,AF009678,AF009745,AF010601,AF071107,AF071108,AF071109,AF071110,AK001036,AK055211,AK311231,AK313397,BC009682,BK001394,BX510058,BX646699,BX648328,CR457424,CR749366,CR749473,U59913,U73825 ADQ32752,NP_001001419,NP_005894,NP_001001420,AAB82655,AAB92396,EAW62194,EAW62195,EAW62196,AAB72180,AAB66353,AAD20800,AAD20801,AAD20802,AAD20803,BAG36195,AAH09682,CAG33705,CAH18219,CAH18303,AAC50791,AAB95090,Q68DB7,Q6I9T1,Q99717 Hs.167700 DKFZp781C1895|DKFZp781O1323|Dwfc|JV5-1|MADH5 MAD homolog 5|MAD, mothers against decapentaplegic homolog 5|OTTHUMP00000223331|SMA- and MAD-related protein 5|SMAD 5|SMAD, mothers against DPP homolog 5|hSmad5|mothers against DPP homolog 5|mothers against decapentaplegic homolog 5|mothers against decapentaplegic, drosophila, homolog of, 5|smad, mothers against dpp homolog 5 (drosophila) protein-coding 1602897 SMAD5OS SMAD family member 5 opposite strand 10049768 9597 NR_026763,AC009014,CH471062,AF071111,AF086556 EAW62197,AAD20804,Q9Y6J3 Hs.59666 DAMS|SMAD5AS miscrna 1312880 SMAD6 SMAD family member 6 The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863,724455,2300008,2289036,1643222,2315074 14645520,12477932,12407115,12397035,11737269,11483516,11278251,10757800,10748100,10722652,10708949,10708948,10655064,10647776,9759503,9712726,8673135,16282533,12118366,12815042,15496141,15817471,20734064,20658468,9256479,9436979,16299379,19047146,16886151,19018011,19277452,19211612,19032685,18445023,17934461,17931948,17850776,17359969,16951688,16687405,16601693,16373339,16249187,15736400,15716278,15665522,15621726,15529348,15489334,15146197,15033458,14657019,20462450,12782279,15231748,15761153,19688145,19959123,9335505 724455,2300008,2289036,1643222,2315074 4091 NM_005585,NM_001142861,NG_012244,NR_027654,AC013564,AC110048,AF041065,AF101474,CH471082,AF035528,AF037469,AF043640,AM909653,BC012986,BC029288,BC052569,BU154759,CA406301,CB055216,CN314453,CN314455,U59914 NP_005576,NP_001136333,AAF14343,AAF06841,EAW77784,EAW77785,EAW77786,AAB94137,AAC82331,AAC00497,CAP20377,AAH12986,AAC50792,O43541 Hs.153863 HsT17432|MADH6|MADH7 MAD homolog 6|Mothers against decapentaplegic, drosophila, homolog of, 6|SMAD 6|SMAD, mothers against DPP homolog 6|hSMAD6|mothers against DPP homolog 6|mothers against decapentaplegic homolog 6|smad, mothers against dpp homolog 6 (drosophila) protein-coding 1344957 SMAD7 SMAD family member 7 1580863,2299963,2298922,2300008,2315074,2308865,1579878 16027725,15632190,12408818,12407115,12397035,12202987,12151385,12118366,12023024,11904440,11737269,11483516,11163210,10887185,10823886,10757800,10708949,10708948,10647776,9786930,9759503,9730599,9335507,9215638,16179804,18448069,15148321,9892009,16362038,15820682,15496141,15817471,15946939,18029348,20734064,20819778,21071539,21075068,17704440,17657819,17510063,17377371,17332363,17230494,17172861,17009056,16718778,16714330,16641086,16601693,16442497,16288847,16285943,16260615,16187293,16007121,15922743,15877825,15831498,15811853,15811425,15788410,15761153,15736400,15708859,15684397,15661223,9256479,16720724,18593713,17438144,11278251,19018011,18762808,18952608,9436979,19505925,19395656,19357349,19352540,19288000,19192480,19032343,18684712,18616749,18445023,18372905,18372901,18231913,18163503,18041647,17934461,17931948,17928287,15621726,15579469,15529348,15498852,15489334,15231748,15221015,15132952,15128733,15075243,15033661,15033458,15023526,14993265,14988821,14728725,14722617,14718519,14657019,14557482,12952364,12947087,12815042,12650946,12589052,12519765,12477932,20416076,20658468,15342556,16344560,19341727,19562778,19693466,19730683,19758997,19843678,19875456,19878580,19885573,20040761,20124488,20165854,20200978,20354004,20437058,20501757,20514018,20551054,20663871,20530476,20638935,20648012,20659471 2299963,2298922,2300008,2315074,2308865,1579878 4092 NM_005904,AC114684,AF026559,AF156731,CH471096,AF010193,AF015261,AK131394,AK301535,BC074818,BC074819,BP363832,DA882147,NM_001190821,NM_001190822,NM_001190823,NG_023330 NP_005895,AAL68977,EAW62931,AAB81246,AAB81354,BAG54770,BAH13509,AAH74818,AAH74819,O15105,NP_001177750,NP_001177751,NP_001177752 Hs.465087 CRCS3|FLJ16482|MADH7|MADH8 MAD (mothers against decapentaplegic, Drosophila) homolog 7|MAD homolog 7|MAD homolog 8|MAD, mothers against decapentaplegic homolog 7|Mothers against decapentaplegic, drosophila, homolog of, 7|SMAD 7|SMAD, mothers against DPP homolog 7|hSMAD7|mothers against DPP homolog 7|mothers against DPP homolog 8|mothers against decapentaplegic homolog 7|mothers against decapentaplegic homolog 8|smad, mothers against dpp homolog 7 (drosophila) protein-coding 1350114 SMAD9 SMAD family member 9 SMAD family members, such as SMAD9, transduce signals from members of the TGF-beta (see TGFB1; MIM 190180) superfamily, which regulate growth, differentiation, apoptosis, and development (Nishita et al., 1999 [PubMed 10583507]).[supplied by OMIM] 1580863,2299981,1643222,1580077 19018011,15621726,9436979,17356069,9256479,11121043,19269967,18775991,17081983,15489334,12477932,10708949,10708948,10647776,10583507,9759503,9205116,11163184,16189514,15146197,15231748,15542835,19211612,19244313,20379614 2299981,1643222,1580077 4093 NM_005905,NM_001127217,AL138706,CH471075,AK311686,AK314920,AW191604,BC011559,BC067766,BC104760,BC104762,BC143240,BC143256,D83760,D83761,DB501041,CN291481,NG_016963 NP_005896,NP_001120689,CAI14007,EAX08570,EAX08571,EAX08572,EAX08573,AAH11559,AAI04761,AAI04763,AAI43241,BAA21128,BAA21129,O15198,ABZ92389,ACE87418,ACE86732,CAM19158 Hs.123119 MADH6|MADH9|SMAD8|SMAD8A|SMAD8B MAD homolog 9|Mothers against decapentaplegic, drosophila, homolog of, 9|OTTHUMP00000018262|SMAD, mothers against DPP homolog 9|mothers against decapentaplegic homolog 9|smad, mothers against dpp homolog 9 (drosophila) protein-coding 1607014 SMAGP small trans-membrane and glycosylated protein 15986429,15021913,14702039,12477932 57228 NM_001031628,NM_001033873,AC046135,AC139768,CH471111,AF091087,BC001400,BC003379,BC008712,BC045658,BC120965,BC120966,BG740791,CA776511,CR456943,CR597407,CR602520,CR607073,CR614963,CR619854,CR620025,AK001839 AAC72956,NP_001026798,NP_001029045,EAW58183,EAW58184,EAW58185,AAH03379,AAH08712,AAI20966,AAI20967,CAG33224,O95332,Q0VAQ4 Hs.652389 MGC149453|MGC149454|hSMAGP small cell adhesion glycoprotein|small cell transmembrane and glycosylated protein|small trans-membrane and glycosylated protein|small transmembrane and glycosylated protein protein-coding 1347252 SMAP1 small ArfGAP 1 The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 16273301,15761153,15659652,15489334,14702039,14574404,12477932,12119110,9644265,9373149,8125298,17353931 60682 NM_001044305,NM_021940,AL121961,AL354943,AL591049,AY055015,CH471051,AF442495,AK023221,AK074340,AK124239,AK222711,AK290448,AK303387,AK307807,AK315579,AL833906,AY055003,AY055004,BC008672,BC028074,BC036123,CR624449 NP_001037770,NP_068759,CAI42146,CAI42147,CAI42148,CAI12308,CAI12310,CAI12311,CAI12312,CAI14240,CAI14241,CAI14242,AAL14716,AAL14717,EAW48805,EAW48806,EAW48807,EAW48808,EAW48809,AAP97320,BAB14473,BAD96431,BAF83137,BAG64443,BAG37952,CAD38762,AAL14714,AAL14715,AAH08672,AAH28074,AAH36123,Q8IYB5,CAI12309 Hs.485717 FLJ13159|FLJ42245|SMAP-1 stromal membrane-associated GTPase-activating protein 1|stromal membrane-associated protein 1 protein-coding 1601981 SMAP2 small ArfGAP2 17207965,16710414,16571680,15489334,12477932,18029348,20831471,16344560 64744 NM_022733,AL031985,CH471059,AK294675,AK298702,AK303975,AK308280,AK313105,AK316218,AL133206,AL137764,BC014512,BC021133,BU617889,DA082592,DC411665,NM_001198978,NM_001198979,NM_001198980 ADQ32236,NP_073570,CAI19853,CAI19854,CAI19855,EAX07220,EAX07221,EAX07222,BAH11845,BAH12851,BAH14088,BAG35928,BAH14589,CAB61580,CAB70912,AAH14512,AAH21133,Q8WU79,NP_001185907,NP_001185908,NP_001185909 Hs.15200,Hs.602551 RP1-228H13.3|SMAP1L OTTHUMP00000008377|OTTHUMP00000008378|stromal membrane-associated GTPase-activating protein 2|stromal membrane-associated protein 1-like|stromal membrane-associated protein 2 protein-coding 1350342 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 This gene encodes a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16728976,19996304,14609955,1408766,18302774,18243132,18029348,16740656,15772651,15640247,15489334,15347669,15310751,14702039,12477932,12112843,11980720 6594 EU636009,BC051825,BC117447,BC143954,BC143955,BQ006393,BX647934,M89907,NM_139035,NM_003069,NG_012526,AL022577,AL138745,CH471107,AK026426,AK123541,AW614102 ACF37172,AAH51825,AAI17448,AAI43955,AAA80560,P28370,Q86UA8,NP_620604,NP_003060,CAI42682,CAI42683,CAI42684,CAI42612,CAI42613,CAI42614,EAX11833,EAX11834,EAX11835,EAX11836 Hs.152292 DKFZp686D1623|FLJ41547|ISWI|NURF140|SNF2L|SNF2L1|SNF2LB|SNF2LT|SWI|SWI2 ATP-dependent helicase SMARCA1|OTTHUMP00000023982|OTTHUMP00000023983|SNF2-like 1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1|global transcription activator homologous sequence|nucleosome-remodeling factor subunit SNF2L|probable global transcription activator SNF2L1|sucrose nonfermenting 2-like protein 1 protein-coding 1348339 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq] 2302527,1580863 20457675,17938176,8223438,8895581,12200431,12437990,14701856,15696166,16341228,11078522,8670841,19488910,19371634,19183483,19144648,18923443,18660489,18082132,18042045,18006815,17546055,17081983,17075831,16916647,16749937,16097034,15302935,15240517,15075294,14718574,14702039,14657023,14603256,12837248,12757710,12620226,12566296,12493776,12477932,12065415,12044884,11850427,11734557,11719516,11262242,11175787,11134956,10938115,10910076,10078207,10072425,9710619,9099865,8804307,8208605,8012116,7565614,16601680,11238380,11839798,16877760,16932743,17043312,17074803,18029348,19525936,19759913,19762545,21070662,19279220,14559996,16452305,20719309,20460684,10619021,9891079,15034933,16565076,16940996,19363039,19615732,19784067,20011120,20333683,20379614,9128241 2302527 6595 NM_139045,AL138755,AL359076,CH471071,U92832,AK094076,AK296373,AK298045,AK299683,AK300093,AK308941,AL558829,AY293824,BC040029,BC068252,BM921013,CR591550,CR595322,X72889,NM_003070 NP_003061,NP_620614,CAI14592,CAI14593,CAI14594,CAI14595,CAI14596,CAI14597,CAI14598,CAI14599,CAI14600,CAI14601,CAI12965,CAI12966,CAI12967,CAI12968,CAI12969,EAW58811,EAW58812,EAW58813,EAW58814,EAW58815,AAB68685,BAC04280,BAG59047,BAG60343,BAG61590,BAG61895,AAH40029,CAA51407,P51531,Q56A76,Q6LC24,Q8N9Q1,AAI56186 Hs.298990 BAF190|BRM|FLJ36757|MGC74511|SNF2|SNF2L2|SNF2LA|SWI2|Sth1p|hBRM|hSNF2a ATP-dependent helicase SMARCA2|BAF190B|BRG1-associated factor 190B|OTTHUMP00000020970|OTTHUMP00000020971|SNF2-alpha|SNF2-like 2|SNF2/SWI2-like protein 2|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2|global transcription activator homologous sequence|probable global transcription activator SNF2L2|protein brahma homolog|sucrose nonfermenting 2-like protein 2 protein-coding 1348890 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2302032,2302526,2302527,2302528,1580863 11078522,19448667,19342595,19220418,19183483,19144648,19066270,18660489,18508648,18500344,18386774,18345028,18239461,18086889,18042045,18003620,17726060,17723105,17672918,17599918,17468105,17393431,17317669,17274598,17182572,17081983,17081121,17075831,17043312,17023429,16923960,16824695,16800816,16730941,16537901,16513088,16195385,16051670,15999204,15985610,15887247,15781111,15731117,15635413,15616580,15347669,15317818,15302935,15287030,15286705,15240517,15231747,15207703,15141164,15075294,15057824,14990991,14743216,14702039,14701856,14676191,14603256,14555651,14530259,12889071,12837248,12684665,12637547,12620226,12612078,12566296,12493776,12477932,12411497,12368262,12244326,12200431,12192000,12154023,12077331,12065415,12044884,11988099,11953317,11937040,11839798,11805098,11779498,11734557,11726552,11719516,11532957,11486022,11445556,11414763,11108719,11085541,11003650,10944117,10619021,10204490,10078207,9891079,9845365,9590696,9443979,9222609,9099865,8895581,8856972,8670841,7923370,7739891,16687403,11238380,11371506,11784859,11018012,11013263,17353931,10688647,14499622,15034933,14966121,14530271,15035981,15780937,20418909,14559996,14673171,16322236,16424906,16452305,16552721,19061646,19371634,19454010,20086098,20829883,20969766,20596014,17938176,8232556,8208605,17582821,12917342,11950834,10943845,19149898,20628086,20810930,20506188,19081374,20697355,16565076,16675956,16940996,17148452,17643375,19198609,19740755,19784067,19805516,19901545,19913121,20011120,20137775,20164218,20195544,20333683,9128241,16893449,16932743,17011493,17074803,18809673,19015639,19525936,19762545 2302032,2302526,2302527,2302528 6597 AK299761,NM_003072,NM_001128849,NM_001128845,NM_001128846,NM_001128847,NM_001128848,NG_011556,AC006127,AC011442,AC011485,AF254822,CH471106,AB209313,AI695800,AK026573,AK055168,AK097105,AK290033,NM_001128844,AK303352,AK308763,BC007302,BC035916,BC136644,BC139917,BC139924,BC150298,BG396607,BQ009907,CR597216,CR612486,CT005139,D26156,EU430756,EU430757,EU430758,EU430759,U29175 NP_001122316,NP_003063,NP_001122321,NP_001122317,NP_001122318,NP_001122319,NP_001122320,AAC97986,AAC97987,AAG24789,AAG24790,EAW84162,EAW84163,EAW84164,EAW84165,EAW84166,EAW84167,BAD92550,BAG51479,BAF82722,BAG64413,AAI36645,AAI39918,AAI39925,AAI50299,BAG61650,BAA05143,ACA09750,ACA09751,ACA09752,ACA09753,AAB40977,P51532,Q59FZ6,Q9HBD4,AAI51850 Hs.327527 BAF190|BRG1|FLJ39786|RTPS2|SNF2|SNF2-BETA|SNF2L4|SNF2LB|SWI2|hSNF2b ATP-dependent helicase SMARCA4|BAF190A|BRG1-associated factor 190A|BRM/SWI2-related gene 1|SNF2-like 4|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4|brahma protein-like 1|global transcription activator homologous sequence|homeotic gene regulator|mitotic growth and transcription activator|nuclear protein GRB1|protein BRG-1|protein brahma homolog 1|sucrose nonfermenting-like 4|transcription activator BRG1 protein-coding 1318831 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq] 1580863 16510874,12972596,9730600,9836642,18553938,18519663,17081983,16964243,16877760,16603771,16565220,16344560,15775975,15635413,15616580,15543136,15489334,15302935,15284901,15120635,15009096,14729942,12477932,12434153,12374985,12198550,12167701,11980720,11532953,11435432,10914549,10880450,10655480,15148359,15780937,16514417,16675956,16728976,16917504,18029348,18162579,19940112,10662543,16510875,19454010,21172662,19578370,20974961 8467 NM_003601,AC099396,AC104685,AC139713,CH471056,AB010882,AF086544,AK302841,AK308424,AU132439,BC023144,CR596745,AK316444 NP_003592,AAY40920,AAY40965,EAX05071,BAA25173,BAG64032,AAH23144,O60264,Q4W5G3,Q4W5H1,BAH14815 Hs.558422,Hs.710623 ISWI|SNF2H|WCRF135|hISWI|hSNF2H SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5|sucrose nonfermenting protein 2 homolog|sucrose nonfermenting-like 5 protein-coding 1320088 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 SMARCAD1 is a member of the SNF subfamily of the helicase protein superfamily (Adra et al., 2000 [PubMed 11031099]) that binds to transcriptional start sites of many genes involved in transcriptional regulation (Okazaki et al., 2008 [PubMed 18675275]).[supplied by OMIM] 1580756,1580863 11031099,18675275,17081983,16344560,15489334,15302935,14702039,12477932,10574461,1489724,20889312,18029348 1580756 56916 NM_001128429,NM_020159,AC096746,CH471057,AB032948,AK023990,AK025302,AK027490,AK301668,AL359929,AL512768,AY008271,BC017953,BC041800,BC045534,DA798320,DB207879,NM_001128430 ABZ92355,NP_001121902,NP_001121901,NP_064544,EAX06049,EAX06050,EAX06051,BAA86436,BAB14759,BAB55150,BAH13535,CAB95769,CAC21685,AAG16639,AAH17953,AAH45534,Q05D56,Q9H4L7,ACE87528,ACE86841 Hs.410406 DKFZp762K2015|ETL1|HEL1|KIAA1122 ATP-dependent helicase 1|OTTHUMP00000219302|OTTHUMP00000219930|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1|hHEL1 protein-coding 1314575 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq] 1599053 10713074,10857751,18974355,18805831,18520775,18356746,17089404,16840568,16344560,16237566,15489334,14702039,12477932,12471207,11799392,19127206,19752368,19793861,19793862,19793863,19793864,19841479,20379614,20179009 1599053 50485 NM_014140,NM_001127207,NG_009771,AC098820,AF210833,AF210834,AF210835,AF210836,AF210837,AF210838,AF210839,AF210840,AF210841,AF210842,CH471063,AF082179,AF432223,AI701066,AK000117,AK023780,AL122076,BC016482,BC029994,BC043341,BX104166,CR599402,CR622730,DA856812,DB099423 NP_054859,NP_001120679,AAX93097,AAF70454,EAW70567,AAF24984,AAL73034,BAA90955,CAB59251,AAH16482,AAH43341,Q9NZC9,ABM82663,ABM85839 Hs.516674 HARP|HHARP ATP-driven annealing helicase|HepA-related protein|OTTHUMP00000206800|SMARCA-like protein 1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1|sucrose nonfermenting protein 2-like 1 protein-coding 1318721 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599055 1569166,15696166,16387653,18029348,19305156,19320657,19328320,19398554,19503603,19515827,19582488,19683621,19805520,19808872,19902524,20003390,20118769,20472658,9128241,14604992,14526201,12892231,12837248,12665591,12637547,12620397,12548550,12477932,12226744,12213194,12200431,12145209,12138206,12112529,12082626,12016208,11921280,11880634,11782423,11782395,11756182,11734557,11479624,11259590,11085541,10773452,10739763,10688647,10619021,10521299,10490642,10365963,10319872,10208879,10078207,9892189,9710619,9671307,17669367,17616514,17486366,17376508,17357086,16912184,16889668,16772295,16568092,16528370,16344560,16314535,16288006,16267391,16219292,16154112,15993274,15985610,15981100,15899790,15796965,15769941,15761491,15642401,15589835,15489652,15461802,15175083,15150092,15101046,14990991,14743216,14702039,11950834,7801128,14963118,11078522,11430827,19480937,19351817,19276269,19234532,19221586,19221051,19141382,19124645,19033866,18997735,18985520,18973917,18710953,18676838,18647326,18580682,18422762,18327209,18285426,18266055,18262058,18236049,18087273,18072270,17922027,17717433,17699849,9448295,8895581,8709224,7739891,7627549,16403635,16945155,16075307,15875659,16687403,11784859,16169070,11238380,11018012,11013263,9845365,10943845,11726552,11486022,9891079,21108436,18809673,19650111,20932739,19525936,19279220,19913121,20628086,20305614,20506188 1599055 6598 AAB34227 NM_001007468,NG_009303,AP000349,AP000350,CH471095,DQ230988,Y17118,AB017523,AJ011737,AJ011738,AK021419,AK024025,AK299411,AK303620,AL389878,AL389881,AU143041,BC117114,BC143667,BG705851,CR456581,CR590397,CR590517,CR594771,CR595672,CR599485,CR600743,CR600940,NM_003073,CR601509,CR617530,CR619336,CR619411,CR620956,CR621083,CR621090,CR621760,CR624865,CR625181,CR625707,CR626732,R37717 NP_003064,NP_001007469,EAW59605,EAW59606,EAW59607,EAW59608,ABB02184,CAA76639,BAC77068,CAA09758,CAA09759,BAG51033,BAB14784,BAG61393,BAG64629,AAI17115,AAI43668,CAG30467,AAB34227,Q12824,Q17S11,Q9H836,CAK54611,CAK54910,ADR82978 Hs.534350 BAF47|INI1|RDT|RTPS1|SNF5|SNF5L1|Sfh1p|Snr1|hSNFS BRG1-associated factor 47|SNF5 homolog|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1|hSNF5|integrase interactor 1 protein|malignant rhabdoid tumor suppressor|sucrose nonfermenting, yeast, homolog-like 1 protein-coding 1312524 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq] 1580863 16387653,16940996,17474147,17643375,20379614,12917342,8804307,10078207,11018012,11078522,19367581,19156145,18581278,17513758,17081983,16568092,16199878,16083285,15489334,15302935,15144186,14743216,12837248,12665591,12477932,11734557,11726552,11238380,10619021,9891079,9744861,9710619,9693044,9590696,8895581,17074803,18029348,18809673,19525936,19650111,8889548,11784859,11013263,11950834,12244326,9845365,10943845,14966121,14530271,19279220,19321449 6599 NM_003074,AC026318,AC112512,AC130472,CH471055,AK302412,AK302541,BC012101,BC021862,BC032564,BC039843,BC040242,BC050564,BC065253,BC113465,BC117213,BG474088,BM971095,CR590211,U66615 NP_003065,EAW64831,EAW64832,BAG63721,BAG63813,AAH21862,AAH32564,AAH39843,AAH50564,AAH65253,AAI13466,AAI17214,AAC50693,Q05BW5,Q05CR1,Q58EY4,Q92922,ACE87507,ACE86821 Hs.476179 BAF155|CRACC1|Rsc8|SRG3|SWI3 BRG1-associated factor 155|SWI/SNF complex 155 kDa subunit|SWI/SNF complex subunit SMARCC1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1|chromatin remodeling complex BAF155 subunit|mammalian chromatin remodeling complex BRG1-associated factor 155 protein-coding 1315563 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8804307,12917342,10078207,11018012,12192000,11078522,17081983,16713569,16199878,16169070,15489334,15345747,15302935,14743216,12837248,12665591,12477932,12368262,11734557,11238380,9710619,9693044,9435219,8895581,8889548,11784859,11013263,11726552,12244326,9845365,10943845,15035981,19164553,19279220,19336002,16387653,16940996,17474147,17643375,18029348 6601 NM_003075,NM_139067,NM_001130420,AC073896,CH471054,AB209006,AB209293,AK025128,AK293896,AK315153,BC009067,BC013045,BC026222,BC040645,BE326466,BQ272432,BT009924,BX476347,CB850719,CX165574,U66616,AL833124 NP_003066,NP_620706,NP_001123892,EAW96906,EAW96907,EAW96908,BAD92243,BAD92530,BAG57283,AAH09067,AAH13045,AAH26222,AAP88926,AAC50694,Q59G16,Q59GV3,Q8TAQ2,ABW03707,CAH56218,Q658P9 Hs.236030,Hs.632717 BAF170|CRACC2|DKFZp313D0632|Rsc8 BRG1-associated factor 170|SWI/SNF complex 170 kDa subunit|SWI/SNF complex subunit SMARCC2|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2|SWI3-like protein|chromatin remodeling complex BAF170 subunit|mammalian chromatin remodeling complex BRG1-associated factor 170 protein-coding 1313419 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19279220,12917342,8804307,11078522,18029348,16484223,16344560,16189514,15489334,15146197,12837248,12753905,12665591,12477932,11734557,11053448,10078207,9892636,9710619,9693044,8895581,8889549,11784859,11018012,17474147,19762545 6602 DB010252,NM_139071,AC025154,CH471111,AA610093,AF109733,AK130517,AK292700,AK293932,BC000063,BC009368,BE905082,CN272379,CR622081,DA825057,NM_003076,N75126,U66617 NP_003067,NP_620710,EAW58120,EAW58121,EAW58122,EAW58123,EAW58124,EAW58125,EAW58126,EAW58127,AAD23390,BAF85389,BAG57311,AAH09368,AAC50695,Q96GM5,ABZ92538 Hs.79335 BAF60A|CRACD1|Rsc6p 60 kDa BRG-1/Brm-associated factor subunit A|BRG1-associated factor 60A|SWI/SNF complex 60 kDa subunit A|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1|Swp73-like protein|chromatin remodeling complex BAF60A subunit|mammalian chromatin remodeling complex BRG1-associated factor 60A protein-coding 734113 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10382302,9693044,8895581,10943845,15231747,17474147,8804307,17081983,16964243,15489334,12665591,12477932,20148946,20308539 6603 NM_001098426,AC015651,AF068245,CH471109,AF113019,AK025917,AK300939,AK303951,AK307944,BC018953,BC136322,BC142963,BM463728,CR593297,CR612124,U66618 NP_001091896,EAW94266,EAW94267,EAW94268,AAF20280,BAG62568,BAG64878,AAH18953,AAI36323,AAI42964,AAC50696,Q92925 Hs.250581 BAF60B|CRACD2|PRO2451|Rsc6p 60 kDa BRG-1/Brm-associated factor subunit B|BRG1-associated factor 60B|SWI/SNF complex 60 kDa subunit B|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2|Swp73-like protein|chromatin remodeling complex BAF60B subunit|mammalian chromatin remodeling complex BRG1-associated factor 60B protein-coding 1323550 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 14701856,8804307,18816825,17081983,16687403,15489334,14697242,12853948,12690205,12477932,19279220,11726552,9891079,9693044,8895581 6604 BC002628,BC110350,BI598614,BX648385,CR602391,CR607969,CR610746,CR620870,U66619,NM_003078,NM_001003802,NM_001003801,AACC02000108,AC005486,AC021097,CH471173,AK127595,AK297876,AK309500,AK316173,AY450430,AY450431 AAH02628,AAI10351,AAC50697,Q6STE5,AAR88511,NP_003069,NP_001003802,NP_001003801,EAL24510,AAS02031,AAS00380,EAW54005,EAW54006,EAW54007,EAW54008,EAW54009,BAG54531,BAH12684,BAH14544,AAR88510 Hs.647067 BAF60C|CRACD3|MGC111010|Rsc6p 60 kDa BRG-1/Brm-associated factor subunit C|60kDa BRG-1/Brm associated factor subunit c|BRG1-associated factor 60C|SWI/SNF complex 60 kDa subunit C|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3, isoform 1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3|Swp73-like protein|chromatin remodeling complex BAF60C subunit|mammalian chromatin remodeling complex BRG1-associated factor 60C protein-coding 1313743 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq] 12637547,12192000,9435219,12917342,11078522,18029348,17669635,16769725,16199878,16135788,16051670,15489334,15231748,14743216,14702039,12837248,12672490,12477932,12145209,12110891,11734557,11256614,11147808,10078207,8895581,11018012,12244326,9845365,14530271,14623284,19164553,19279220,19321449,18809673,19609353,19650111,19759913,15696166,15985610,16919237,16940996,17043677,20460533 6605 NM_003079,AC004585,AC073508,AF035262,CH471152,AK001532,AK095047,AK294218,AK294666,BC007082,BC011017,BC047731,BC063700,BC069196,BQ707908,BT007176,CR595985,CR597488,CR598259,CR600221,CR600545,CR625220,CR626250,EU327017,EU327018,EU327019,EU327020,EU327021 NP_003070,AAC04509,EAW60670,EAW60671,BAG50933,BAG52975,BAG57525,BAG57834,AAH07082,AAH11017,AAH63700,AAP35840,ACA81391,ACA81392,ACA81393,ACA81394,ACA81395,Q969G3,ABM81638,ABM84407,ABM84820,ABM87381 BAF57 BRG1-associated factor 57|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1|chromatin remodeling complex BRG1-associated factor 57 protein-coding 737070 SMC1A structural maintenance of chromosomes 1A Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1L2 or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. [provided by RefSeq] 1580863 11483963,11682612,15917200,17148452,19052029,19414588,19615732,19701948,20016259,20085707,20159591,20358602,11076961,12199140,11877377,16438930,11590136,12226669,7757074,18029348,19468298,18996922,18832153,18763866,18299561,17544403,17273969,17106445,17102637,16623664,16604071,16242161,16043481,15837422,15772651,15640246,15635413,15546961,15489334,15302935,14702039,14657349,12607005,12477932,12168954,11790298,11564881,10931856,10409732,19308699,20562859,20514443,9789013,9295362,8724849,8076819,7757075,12759374,11877376,12198550,12930902,17353931,20635401 8243 NG_006988,AL161779,CH471154,Z97054,AF176781,AK055575,AK056308,AK091458,AK291921,AK301266,BC064368,BC080185,BC112127,BC171726,BQ232418,BX640922,CR624301,D80000,S78271,NM_006306 Q7Z4C6,NP_006297,CAI42089,EAW93149,EAW93150,EAW93151,CAI42645,CAI42646,AAQ13659,BAF84610,BAH13445,AAH64368,AAH80185,AAI12128,CAE45960,BAA11495,AAB34405,Q14683,Q68EN4,Q6MZR8,Q6P2R1,ADR83441 Hs.211602 CDLS2|DKFZp686L19178|DXS423E|KIAA0178|MGC138332|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB SMC protein 1A|SMC-1-alpha|SMC-1A|SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|SMC1 structural maintenance of chromosomes 1-like 1|segregation of mitotic chromosomes 1|smc-like 1 (yeast)|structural maintenance of chromosomes protein 1A protein-coding 1318766 SMC1B structural maintenance of chromosomes 1B SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM] 1580863 18029348,14660695,11564881,11329013,10591208,15125634,12759374,12477932,20819778 27127 NM_148674,AL008718,AL021391,CH471138,AJ504806,AK125736,AL704843,BC126208,BG194018 NP_683515,CAQ08671,EAW73381,EAW73382,EAW73383,CAD43404,BAC86266,AAI26209,Q8NDV3 Hs.334176 FLJ43748|SMC1BETA|SMC1L2|bK268H5|bK268H5.5 SMC protein 1B|SMC-1-beta|SMC-1B|SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|SMC1 structural maintenance of chromosomes 1-like 2|mitosis-specific chromosome segregation protein like protein beta|structural maintenance of chromosomes protein 1B protein-coding 1313128 SMC2 structural maintenance of chromosomes 2 1580863 12589063,9789013,11136719,10958694,17488335,15635413,14702039,14660695,12477932,15148359,17353931,17653272,19454010,20823528 10592 BC017845,NM_006444,NM_001042550,AL161791,AL354938,CH471105,AF092563,AF113673,AJ420415,AJ420453,AK000955,AK001485,AK124957,AK292599,AK307752,AL833191,AY739716,BC003396,NM_001042551,BC032705,BC055081,BC061906,BC071750,BC107891,BC130385,BC144163,BF969462,BN000163,CR607728,U46075 NP_001036016,NP_006435,NP_001036015,CAI16866,CAI16867,CAI16923,EAW58973,EAW58974,EAW58975,EAW58976,EAW58977,AAC72360,AAF29579,BAG50839,BAG50923,BAF85288,CAI46187,AAW65985,AAH03396,AAH17845,AAH32705,AAH55081,AAH61906,AAH71750,AAI07892,AAI30386,AAI44164,CAD89875,AAA86843,O95347,Q05BV1,Q05D74,Q13497,Q2KQ72,Q32Q15,Q5T821,Q6IPS5,Q6P712,Q7Z2X1 Hs.119023 CAP-E|CAPE|FLJ10093|SMC2L1|hCAP-E SMC protein 2|SMC-2|SMC2 (structural maintenance of chromosomes 2, yeast)-like 1|SMC2 structural maintenance of chromosomes 2-like 1|XCAP-E homolog|chromosome-associated protein E|smc2 structural maintenance of chromosomes 2-like 1 (yeast)|structural maintenance of chromosomes (SMC) family member, chromosome-associated protein E|structural maintenance of chromosomes protein 2 protein-coding 1354451 SMC3 structural maintenance of chromosomes 3 This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq] 1580863 19907496,19906707,20562859,20936779,19444697,11483963,15855230,15917200,16385451,16484223,16682347,17113138,17148452,17478428,18832153,19615732,20085707,20358602,11590136,10801778,12498344,9506951,12651860,9015313,19094982,18996922,18727658,18614053,18442975,18299561,17273969,17081288,16156898,16043481,15837422,15656913,15635413,15164054,15125634,12759374,12477932,11564881,11076961,11042152,9789013,9528857,11877376,12198550,17353931 9126 AJ005015,AK289771,AK315845,BC047324,CA439554,CR603306,NM_005445,NG_012217,AL359260,CH471066,AF020043,AF067163 AAD32447,CAA06289,BAF82460,BAF98736,AAH47324,Q86VX4,Q9UQE7,NP_005436,CAI16576,EAW49557,EAW49558,AAC14893 Hs.24485 BAM|BMH|CDLS3|CSPG6|HCAP|SMC3L1 SMC protein 3|SMC-3|basement membrane-associated chondroitin proteoglycan|chondroitin sulfate proteoglycan 6 (bamacan)|chromosome-associated polypeptide|structural maintenance of chromosomes protein 3 protein-coding 1315434 SMC4 structural maintenance of chromosomes 4 1580863 11136719,9789013,11850403,17488335,16565220,14702039,12477932,11321372,11230166,10958694,10319587,9373149,8125298,15148359,18029348,20800603 10051 NM_001002800,NM_005496,AC024221,CH471052,AB019987,AF092564,AK002200,AK026361,AK122939,AK128143,AK225437,AK307508,AK315070,AL136877,AL833949,BC001557,BC065259,BC070161,BC106033,BI090399,CR600091,CR609546 NP_001002800,NP_005487,EAW78639,EAW78640,EAW78641,EAW78642,BAA73535,AAC72361,BAG53807,BAG54637,CAB66811,CAD38803,AAH01557,AAH65259,AAH70161,AAI06034,Q58F29,Q6NSG3,Q6P169,Q9NTJ3,AAI46371,AAI48797 Hs.58992 CAPC|SMC4L1|hCAP-C OTTHUMP00000213838|OTTHUMP00000213841|SMC protein 4|SMC-4|SMC4 structural maintenance of chromosomes 4-like 1|XCAP-C homolog|chromosome-associated polypeptide C|smc4 structural maintenance of chromosomes 4-like 1 (yeast)|structural maintenance of chromosomes protein 4 protein-coding 1316718 SMC5 structural maintenance of chromosomes 5 18667531,19502785,19861517,20379614,18086888,17589526,16810316,16344560,16055714,15489334,15164053,14702039,12477932,12168954,11408570,9628581 23137 NM_015110,AL162390,CH471089,AA709087,AB011166,AJ310550,AK055825,AK304133,BC017666,BC020393,BC034441,BC038225,DB220819,DB318469 NP_055925,CAH73243,EAW62501,EAW62502,BAA25520,CAC39247,BAG65027,AAH17666,AAH38225,Q8IY18,ABM84290,ABM87767 Hs.534189,Hs.601181 KIAA0594|SMC5L1 SMC protein 5|SMC-5|SMC5 structural maintenance of chromosomes 5-like 1|hSMC5|smc5 structural maintenance of chromosomes 5-like 1 (yeast)|structural maintenance of chromosomes protein 5 protein-coding 1322555 SMC6 structural maintenance of chromosomes 6 1580863 12477932,11408570,11230166,11076863,14968112,18667531,20056645,11256614,18086888,17589526,16810316,16381901,16055714,15815621,15489336,15489334,14702039 79677 NM_024624,NM_001142286,AC097377,CH471053,AJ310551,AK025769,AK092853,AK098325,AK124545,AK292421,AL136544,AL832979,BC011389,BC032675,BC039828,CD369665,CR618309,BC022998,DB451629 NP_078900,NP_001135758,AAX88851,EAX00866,EAX00867,EAX00868,CAC39248,BAB15236,BAF85110,CAB66479,CAH56327,AAH32675,AAH39828,Q96SB8,CAL37412 Hs.526728 FLJ22116|FLJ35534|SMC-6|SMC6L1|hSMC6 OTTHUMP00000200488|OTTHUMP00000200490|SMC protein 6|SMC6 structural maintenance of chromosomes 6-like 1|smc6 structural maintenance of chromosomes 6-like 1 (yeast)|structural maintenance of chromosomes protein 6 protein-coding 1601772 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 17567985,16461635,16344560,12477932,10737800,9734811,20379614 23347 NM_015295,AP001011,AP005061,AB014550,AI904018,AK025646,AK126324,AL080138,AW503637,BC006008,BC035774,BP872870,BU153211,BU509173,CR627458,DA283721,DA675822,DB071574,DN913642 NP_056110,BAA31625,BAB15202,BAC86525,CAB45732,CAH10538,A6NHR9 Hs.8118 DKFZp686O0631|KIAA0650 structural maintenance of chromosomes flexible hinge domain-containing protein 1 protein-coding 737432 SMCP sperm mitochondria-associated cysteine-rich protein Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. [provided by RefSeq] 1580863 17047026,16325371,16189514,15489334,12477932,11940662,11375445,10411523,8916043,8833144,2715306,1418626,18029348 4184 NM_030663,AL162596,CH471121,X89961,AK312020,BC014593,BC016744,X89960 NP_109588,CAI19552,EAW53361,CAD56487,BAG34957,AAH14593,AAH16744,CAA62000,P49901,Q5T7P5,ABM81714,ABM84870 Hs.111850 HSMCSGEN1|MCS|MCSP|MGC26305|MGC26519 mitochondrial capsule selenoprotein|sperm mitochondrial-associated cysteine-rich protein protein-coding 1346026 SMCR Smith-Magenis syndrome chromosome region 6600 1345469 SMCR2 Smith-Magenis syndrome chromosome region, candidate 2 11997338 140768 AI821758 Hs.369680 protein-coding 1343673 SMCR3 Smith-Magenis syndrome chromosome region, candidate 3 11997338 140769 AA609047 protein-coding 1352395 SMCR4 Smith-Magenis syndrome chromosome region, candidate 4 11997338,10737800 140770 BG992883 protein-coding 1352378 SMCR5 Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) 11997338 140771 NR_024007,AC122129,CH471196,AF467442 AAL78339,EAW55697 Hs.352643 NCRNA00034 miscrna 1350603 SMCR6 Smith-Magenis syndrome chromosome region, candidate 6 11997338 140772 AJ230805,BF511382,W94594 Hs.660306 protein-coding 1347197 SMCR7 Smith-Magenis syndrome chromosome region, candidate 7 This gene encodes a protein of unknown function. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 19060904,16713569,16344560,16189514,15517828,14702039,12477932,11997338 125170 NM_139162,NM_148886,NM_001144900,AC127537,CH471196,AF467443,AK056165,AK128310,BC014973,BC035292,CR611025,DB183618 NP_631901,NP_683684,NP_001138372,EAW55651,EAW55652,AAL78340,BAB71108,BAC87377,AAH14973,Q96C03 Hs.655555 MGC23130 Smith-Magenis syndrome chromosomal region candidate gene 7 protein protein-coding 1604008 SMCR7L Smith-Magenis syndrome chromosome region, candidate 7-like 11256614,16381901,16189514,15489336,20877624,15324660,12477932,11230166,11076863,10591208,9110174,8619474 54471 NM_019008,AL022312,CH471095,AF086364,AK000239,AK026539,AK290954,AL136768,AL365515,AL834205,BC002587,BC002861,BC008327,BC009958,BC032530,BC047292,BC054037,BG419918,CR601387,CR615640 NP_061881,CAI19178,CAQ08286,CAQ08287,EAW60335,EAW60336,EAW60337,EAW60338,EAW60339,BAA91027,BAF83643,CAB66702,CAB97211,CAD38892,AAH02587,AAH08327,Q7L890,Q9H0J7,Q9NQG6,CAL38265,CAL38549,CAL38622 Hs.714252 FLJ20232|HSU79252|dJ1104E15.3 OTTHUMP00000199138|OTTHUMP00000199140|Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like protein-coding 1345463 SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 20562859,15342556,14702039,12477932,11997338 140775 AC127537,CH471196,AF467440,AK092035,AK296847,BC001018,BC005067,BC014179,BC040699,BC101115,BC101116,BC101117,BC142680,NM_144775,BP280386,CK724925 NP_658988,EAW55644,EAW55645,AAL78337,BAG59413,AAH01018,AAH14179,AAI01117,AAI01118,AAI42681,Q8TEV9 Hs.592944,Hs.707728 FLJ34716|FLJ60657 Smith-Magenis syndrome chromosomal region candidate gene 8 protein protein-coding 1344602 SMCR9 Smith-Magenis syndrome chromosome region, candidate 9 140776 1319189 SMEK1 SMEK homolog 1, suppressor of mek1 (Dictyostelium) 20936779,14702039,18715871,12477932,17353931,18487071,16107728,16085932,15489334,15302935 55671 AL133153,CH471061,AB095930,AF113213,AK000714,AK001885,AK024297,AL832921,BC018617,BC022778,NM_032560,BC028088,BC038932,BC072409,BM147425,BX248247,CR605708 NP_115949,EAW81452,EAW81453,EAW81454,EAW81455,EAW81456,EAW81457,BAC23106,AAG39284,BAA91338,BAA91960,BAB14877,CAH10634,AAH28088,AAH38932,AAH72409,CAD62575,Q6IN85,Q8N6W1 Hs.533887 FLFL1|KIAA2010|MSTP033|PP4R3A|smk-1|smk1 serine/threonine-protein phosphatase 4 regulatory subunit 3A protein-coding 1603387 SMEK2 SMEK homolog 2, suppressor of mek1 (Dictyostelium) 2300117 17353931,18029348,18614045,16964243,16344560,16107728,16085932,15815621,15616564,15489334,12477932,11230166,10718198,18715871,16169070,14702039 2300117 57223 NM_020463,NM_001122964,AC015982,CH471053,AB037808,AK023148,AK026437,AK056036,AK056503,AK296481,AL122106,AL136556,AY825268,AY825269,BC006215,BC032531,BC045714,BC060855,CR600305,DA392286 NP_065196,NP_001116436,AAY24270,EAX00090,EAX00091,EAX00092,EAX00093,EAX00094,EAX00095,EAX00096,BAA92625,BAB14430,BAG59121,CAB66491,AAV97750,AAV97751,AAH06215,AAH45714,AAH60855,Q5MIZ7 Hs.516182 FLFL2|FLJ31474|KIAA1387|PP4R3B|PSY2|smk1 serine/threonine-protein phosphatase 4 regulatory subunit 3B protein-coding 1602982 SMEK3P SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene 14702039 139420 NR_002784,AC006210,AK057429,AK131475 BAB71482,BAD18620 Hs.350673 FLFL3P|FLJ32867|smk1 pseudo 1602127 SMG1 SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternative spliced transcript variants have been described, but their full-length natures have not been determined. [provided by RefSeq] 11331269,11544179,15175154,16488880,14636577,19417104,18332866,18326048,17229728,16452507,16344560,15279777,14702039,12554878,12477932,12168954,11948212,10737800,10493829,10428027,9566925,9455477,8524286,20427287,20723581,20864032,15231748,19406746,19765550 23049 NM_015092,AC026472,AC092287,AC138811,CH471186,AB007881,AB061371,AF186377,AF395444,AK025794,AK057563,AK074359,AK123332,AL833298,AW088221,AW503964,AY014957,BC037335,BC047629,BE079340,BF333707,BU633006,CA868047,DA433527,DA854035,U32581 NP_055907,EAW50262,BAA24851,BAB70696,AAK58892,AAM73708,AAK00511,AAA86535,Q96Q15,AAI56498 Hs.460179 61E3.4|ATX|KIAA0421|LIP PI-3-kinase-related kinase SMG-1|SMG-1|hSMG-1|lambda-interacting protein|lambda/iota protein kinase C-interacting protein|phosphatidylinositol 3-kinase-related kinase|phosphatidylinositol 3-kinase-related protein kinase|serine/threonine-protein kinase SMG1 protein-coding 1603683 SMG5 Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM] 12699629,14636577,16488880,17053788,16809764,16710414,15546618,15489334,14702039,12676087,12477932,12168954,10470851,15721257,20139978 23381 NM_015327,AL135927,AL589685,CH471121,AB029012,AB085691,AK025988,AK026395,AK027486,AK092183,AL137738,AY168922,AY336728,BC007292,BC007453,BC038296,CR592010,CT000143 CAI15524,NP_056142,CAI15525,CAI15546,CAI14160,EAW52973,EAW52974,BAA83041,BAC53623,BAB55147,CAH56374,AAO17582,AAQ84301,AAH07453,AAH38296,Q5TCL0,Q96SX4,Q9UPR3 Hs.516837 EST1B|FLJ12287|FLJ34864|KIAA1089|LPTS-RP1|LPTSRP1|RP11-54H19.7|SMG-5 EST1 telomerase component homolog B|EST1-like protein B|Est1p-like protein B|LPTS interacting protein|LPTS-interacting protein|ever shorter telomeres 1B|hSMG-5|protein SMG5 protein-coding 1320039 SMG6 Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) SMG6 is involved in nonsense-mediated mRNA decay (Fukuhara et al., 2005 [PubMed 15721257]).[supplied by OMIM] 19913121,20628086,16344560,19584346,14702039,12699629,16488880,15721257,14636577,19018238,17940095,17557331,17053788,16820686,15489334,12676087,12554878,12477932,12168954,11087658,9872452 23293 AU120859,NM_001170957,NM_017575,AC090617,AL450226,CQ834790,AB018275,AK024131,AK074270,AK302964,AL080204,AL133597,AY145883,AY168921,BC064916,CR602852 NP_001164428,NP_060045,CAH05610,BAA34452,BAB14835,BAH13860,CAB63733,AAN46114,AAO17581,AAH64916,Q86US8,Q9H7Y8,AAI48374 Hs.448342 C17orf31|EST1A|KIAA0732|SMG-6 EST1 telomerase component homolog A|EST1-like protein A|Est1p-like|ever shorter telomeres 1A|hSmg5/7a|telomerase subunit EST1A|telomerase-binding protein EST1A protein-coding 1321852 SMG7 Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) SMG7 is involved in nonsense-mediated mRNA decay (Fukuhara et al., 2005 [PubMed 15721257]).[supplied by OMIM] 14636577,16488880,15721257,17081983,16710414,15546618,15489334,14702039,12699629,12676087,12477932,12168954,11318611,9039502,16169070,16344560,20237496,18029348 9887 NM_201569,AL137800,AL355387,AL359876,AL449223,CH471067,AB085674,AK056035,AK074297,AK091477,AK297207,AK299178,AK307394,AL833675,AY386363,BC009281,BC015788,BC036381,BC052565,BM152501,CR596132,CR602776,D87437,NM_173156,NM_201568,CN479993,DB223038,DC380923,NM_001174061 NP_963863,CAI19476,CAI19477,CAI19478,CAI19484,CAI19485,CAI19486,CAI16625,CAI16626,CAI16627,EAW91154,EAW91155,EAW91156,EAW91157,EAW91158,EAW91159,BAC53621,BAC53622,BAB71079,BAC03672,BAG59692,BAG61224,AAR25620,AAH36381,AAH52565,BAA13381,Q6TV06,Q8NB69,Q92540,Q96N31,NP_775179,NP_963862,NP_001167532 Hs.591463 C1orf16|EST1C|FLJ23717|KIAA0250|SGA56M|SMG-7 EST1 telomerase component homolog C|EST1-like protein C|OTTHUMP00000033159|OTTHUMP00000033245|OTTHUMP00000217155|OTTHUMP00000217156|OTTHUMP00000217157|breast cancer-associated antigen SGA-56M|ever shorter telomeres 1C|protein SMG7 protein-coding 736439 SMN1 survival of motor neuron 1, telomeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1358254,1358253 20515750,20620147,20637152,15119481,14972554,14749338,14742439,14715275,14697339,14520560,12975319,12878704,12679382,12668731,12663808,12657835,12477932,12459587,12374765,12361597,12221125,12192051,12095920,12067652,12065586,12021369,11996521,11992267,11935338,11907229,11875052,11835381,19625283,19538222,19480685,19351384,19271042,19244360,19215052,19198020,19179398,19154529,19134255,19103745,19050931,18974562,18752447,18703124,18651653,18633133,18546169,18533950,18337729,18332255,18269687,18172693,18093976,18071605,17850955,17682539,17635841,17625510,17592254,17585203,17475491,17415510,17392705,17250498,17250497,17081983,17049859,17023415,16936383,16931506,16845275,16786553,16651888,16617248,16565220,16481599,16449646,16439605,16331551,16189514,16169070,16118268,16093455,15832310,15726222,15608400,15580564,15526170,15489334,15459957,15372022,15345747,15304326,15249625,15222879,11792806,11791208,11773003,11748230,11720283,11714716,11713266,11704667,11641277,11574476,11551898,11522829,11509230,11448987,11438536,11313744,11149922,11135666,11092763,10942426,10851237,10767334,10734235,10732817,10732802,10725331,10601333,10369862,10339583,10205267,9845364,9837824,9818944,9600994,9503025,9389483,9323129,9302277,9259265,9158159,9147655,8922999,8838816,8808598,8670859,7813012,7639755,7581461,11914277,15494309,17218272,20696395,20563565,7552146,20947812,21055263,19596235,19628962,19648294,19735367,19922137,19997741,20090376,20188701,20197730,20373854,20442745 1358254,1358253 6606 NM_000344,NM_022874,NG_008691,AC005031,AC044797,AC139834,AF092925,U43883,U80017,AK298203,BC062723,U18423,AC139494 NP_000335,NP_075012,AAC62262,AAD37484,AAC50473,AAC52048,BAG60473,AAH62723,AAA66242,Q16637,Q9UNT8,ABM85021,ABW03675 Hs.535788 BCD541|SMA|SMA1|SMA2|SMA3|SMA4|SMA@|SMN|SMN2|SMNT|T-BCD541 OTTHUMP00000223567|OTTHUMP00000223568|OTTHUMP00000224066|component of gems 1|gemin 1|gemin-1|survival motor neuron|survival motor neuron protein protein-coding 1606833 SMN2 survival of motor neuron 2, centromeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 20515750,20739549,11714716,17023415,8670859,15130578,9323129,9845364,10531003,19397406,19329542,19287802,19271042,19244360,19154529,19134255,18971205,18941511,18842367,18794368,18703504,18703124,18662980,18546169,18492800,17924536,17884807,17850955,17761657,17592254,17585203,17505471,17475491,17407069,20563565,20826664,17307868,17250497,17081983,17049859,16931506,16845275,16565220,16481599,16449646,16439605,16093455,15944201,15852397,15832310,15790598,15772088,15580564,15489334,15372022,15305106,15304326,15162126,15146197,14766219,12915451,12833158,12642665,12477932,12370479,12095920,12067652,12065586,11993528,11925564,11875052,11839954,11835381,11791208,11574476,11551898,11509230,11149922,11135666,10942426,10732817,10732802,10556282,10369862,10205267,9837824,9503025,9259265,9158159,9147655,8889549,8838816,8808598,7813012,7639755,7552146,17353931,10601333,10734235,10851237,11092763,11438536,11448987,11641277,11704667,11720283,11748230,11773003,12361597,12975319,14715275,15494309,15848170,16087681,16169070,16189514,19603064,19628962,19648294,19716110,19760790,19922137,19953646,20186123,20197730,20442745,9389483,20947812,20577007 6607 NM_017411,NM_022875,NM_022876,NM_022877,NG_008728,AC004999,AC140134,AF187725,AA029652,AI312583,AK289669,BC000908,BC015308,BC070242,CN272420,CR623997,U21914 NP_059107,NP_075013,NP_075014,NP_075015,AAC83178,BAF82358,AAH00908,AAH15308,AAH70242,AAA64505,Q16637,ABM82472,ABM85660,ABW03676 Hs.202179 BCD541|C-BCD541|FLJ76644|MGC20996|MGC5208|SMN1|SMNC OTTHUMP00000221943|OTTHUMP00000221944|component of gems 1|gemin 1|gemin-1|survival motor neuron protein protein-coding 1319332 SMNDC1 survival motor neuron domain containing 1 This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq] 1580863 9731529,15494309,17353931,9817934,18211889,16964243,15635413,15489334,12477932,11331595,11331295,12234937,16385451,20028739 10285 NM_005871,NG_008284,AL360182,CH471066,AF083385,AF107463,AK314013,BC011234,BC039110,BQ694303,CR591263,CR603913,CR612539 NP_005862,CAI15482,EAW49561,EAW49562,EAW49563,EAW49564,AAC64086,AAC84148,BAG36724,AAH11234,O75940 Hs.726152 SMNR|SPF30 30 kDa splicing factor SMNrp|SMN-related protein|splicing factor 30, survival of motor neuron-related|survival motor neuron domain-containing protein 1|survival of motor neuron-related-splicing factor 30 protein-coding 733306 SMO smoothened homolog (Drosophila) 704355,1580863,2324978,2324982,2324983,2324981,2324910,2324992 8906787,9422511,19453261,19432668,19401682,19351817,19304771,19237606,18543049,18502968,18359851,16945339,16867986,16804411,16339184,15618519,15489334,12773389,12690205,12499255,12477932,12241103,12192414,12165511,12123571,11748145,11042037,9811851,9799615,9764827,8898207,9628830,9581815,16344560,20561215,17884791,19473442,19564910,19726788,19730683,20050020,20067614,20215540,20603613,20819778 704355,2324978,2324982,2324983,2324981,2324910,2324992 6608 NM_005631,AB065574,AC011005,AF114821,CH236950,CH471070,AF071494,AF089720,AF120103,AF130867,BC004332,BC009989,U84401,NG_023340,AU132302 NP_005622,BAC05807,AAD17202,EAL24102,EAW83715,AAC24863,AAF31757,AAD28625,AAH09989,AAB41788,Q8NH34,Q99835,Q9Y2Y5,ABM87646 Hs.437846 Gx|SMOH protein Gx|seven transmembrane helix receptor|smoothened homolog protein-coding 1348217 SMOC1 SPARC related modular calcium binding 1 1331355 17386346,15489334,12508121,12477932,12130637,20359165 1331355 64093 AJ249900,AK098441,AK289988,AK313063,BC008608,BC011548,BX110623,CR610837,CR613515,CR615496,CR626369,NM_001034852,NM_022137,AL135747,AL157789,CH471061 EAW81015,EAW81016,CAC10352,BAF82677,BAG35892,AAH08608,AAH11548,EAW81014,Q9H4F8,ABM82709,ABM85893,EAW81013,NP_001030024,NP_071420 Hs.497349 SMOC-1|SPARC-related modular calcium-binding protein 1|secreted modular calcium-binding protein 1 protein-coding 1315436 SMOC2 SPARC related modular calcium binding 2 625567 19759913,20965805,17204727,16774925,15489334,14702039,14574404,12741954,12477932,12031507,19890347,20379614 625567 64094 NM_022138,AL109940,AL138918,AL391319,AL442124,CH471051,AB014730,AB014737,AF173892,AF176778,AJ249902,AJ420521,AK056700,AK297839,AK314613,AK315920,AL832303,BC028420,BC047583,CR622344,AI032288,NM_001166412 NP_071421,CAI20434,CAI20435,CAI39894,CAI39895,CAI39896,EAW47461,EAW47462,EAW47463,EAW47464,BAB20267,BAB20274,AAQ13639,AAQ13656,CAC10353,BAG51789,BAG60173,BAH14291,CAI46175,AAH28420,AAH47583,Q7Z4C9,Q9H3U7,NP_001159884 Hs.487200 MST117|MSTP117|MSTP140|RP11-270C4__A.1|SMAP2|SMOC-2|bA270C4A.1|bA37D8.1|dJ421D16.1 OTTHUMP00000017665|SMAP-2|SMOC-2|SPARC-related modular calcium-binding protein 2|secreted modular calcium-binding protein 2|smooth muscle associated protein 2|smooth muscle-associated protein 2|thyroglobulin type-1 repeat containing protein protein-coding 1314443 SMOX spermine oxidase The product of this gene is the polyamine oxidase. This enzyme potentially represents a new class of catabolic enzymes in the mammalian polyamine metabolic pathway capable of the efficient oxidation of polyamines. More than five transcript variants encoding four active isoenzymes have been identified for this gene, however, not all variants have been fully described. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq] 20059804,18422650,18302221,16207710,15489334,15221502,14764092,14702039,12975309,12727196,12477932,12458219,12398765,12141946,11780052,11454677,3181599,12798,20127992,19165232,19727732,20000632,20379614 54498 NM_175839,NM_175842,NM_175840,NM_175841,AL121675,CH471133,AF519179,AK000753,AK025938,AK127286,AK293485,AL162058,AY033889,AY033890,AY033891,AY358104,BC000669,BG480614,CR596452,CR598868,EF032141,U61836 NP_787033,NP_787036,NP_787034,NP_787035,CAI22747,CAI22748,CAI22749,EAX10457,EAX10458,EAX10459,EAX10460,EAX10461,EAX10462,EAX10463,AAN77119,BAA91360,BAB15288,BAG56974,CAB82396,AAK55763,AAK55764,AAK55765,AAQ88471,AAH00669,ABM01872,Q5TE25,Q9NWM0 Hs.433337 C20orf16|FLJ20746|MGC1010|PAO|PAOH1|SMO OTTHUMP00000030156|PAO-1|flavin containing amine oxidase|flavin-containing spermine oxidase|polyamine oxidase 1|putative cyclin G1 interacting protein|spermine oxidase protein-coding 1349414 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1601336,1601345,1601347,1580863 19913121,20628086,18052040,17698617,17381401,16787399,16642440,16472269,16245071,16051685,16010684,15997205,15888438,15877209,15849201,15769735,15743760,15383576,15241805,15221801,15175033,12953170,12815059,12801930,12631268,12556236,12477932,12369017,12208520,11788605,11001565,9030779,8889548,8693491,8680412,8664904,8407868,8051942,2555181,2023926,2004772,1885770,1840600,1740330,1711683,1618760,1391960,1301192,1292508,15509740,1718266,7670466,19300439,19059331,19054571,19050888,18815062,18628757,18426979,18264947,18088425,20386867,20956541,9110068,19860808,11238738,19405096,19817993,19878569 1601336,1601345,1601347 6609 AA746054,BI599208,NM_001007593,NM_000543,NG_011780,AC068733,CH471064,M59917,M81780,X63600,AB209775,AK292388,AY649987,BC041164,BM686561,BU845962,CR615854,M59916,X52678,X52679,X59960 NP_001007594,NP_000534,EAW68726,EAW68727,EAW68728,EAW68729,AAA58378,AAA75008,AAA75009,CAA45145,BAD93012,BAF85077,AAV68198,AAH41164,AAA58377,CAA36901,CAA36902,CAA42584,P17405,Q59EN6,Q8IUN0 Hs.498173 ASM|ASMASE|NPD aSMase|acid sphingomyelinase|sphingomyelin phosphodiesterase protein-coding 732430 SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 1580863 19913121,20628086,17272284,9520418,18391951,18040843,17212982,16344560,15489334,15175033,15051724,12477932,10608884,8889548,15509740,20836852,11238738,11997500,12566438,12676795,14689449,15013522,17449104,19698806,19817993,19834535,17207965 6610 NM_003080,AL109947,CH471051,AJ222801,AK310148,AK313515,BC000038,CA314251,CR591613,DA672570 NP_003071,CAI23338,CAI23340,CAI23341,EAW48346,CAA10995,BAG36295,AAH00038,O60906,ABM82805,ADQ32367 Hs.55235 ISC1|NSMASE|NSMASE1 N-SMase|lyso-PAF-PLC|lyso-platelet-activating factor-phospholipase C|neutral sphingomyelinase|sphingomyelin phosphodiesterase 2 protein-coding 1347416 SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 1580863 20106976,10823942,18299447,17349629,17085432,16631623,16517606,15489334,15051724,14741383,12566438,12477932,12417987,15509740,19913121,20628086,19698806,19735728 55512 NM_018667,AC099521,CH471092,AA461272,AJ250460,AK026246,AK289651,AL157660,AW163364,BC012727,BC041828,BC112238,BI196095,CA424980,CB268111,DQ424899,BC143631,BC143634 NP_061137,EAW83233,CAB92964,BAB15409,BAF82340,AAI12239,ABD83664,Q1ZYL9,Q9H657,Q9NY59,AAI43632,AAI43635,ADR83107 Hs.368421 FLJ22593|MGC138443|NSMASE2 nSMase-2|neutral sphingomyelinase 2|neutral sphingomyelinase II|sphingomyelin phosphodiesterase 3 protein-coding 1604348 SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM] 15231747,16517606,18505924,16344560,15815621,15489334,14702039,12477932,11230166,10718198,9110174,8889549,8619474,15509740,17353931,19913121,20628086,19698806 55627 NM_017951,AC018804,CH471263,AA232420,AB037839,AF052134,AK000304,AK000763,AK001227,AK056501,AK126920,AK297257,AK298609,AK299185,AK301576,AK303427,AK303519,NM_017751,AL136737,BC040941,BC064947,CR533550,CR614315,DB137488,EU367941,AI393912,DA797873,NM_001171083,NR_033230,NR_033231,NR_033232 NP_060221,NP_060421,AAY14883,EAW55597,EAW55598,EAW55599,EAW55600,EAW55601,BAA92656,BAA91070,BAA91368,BAA91567,BAC86751,BAG59735,BAG60793,BAG61230,BAG63069,BAG64478,BAG64547,CAB66671,AAH64947,CAG38581,ACA48221,Q9NXE4,NP_001164554 Hs.516450 FLJ20297|FLJ20756|KIAA1418|NET13|NSMASE-3|NSMASE3|nSMase-3 OTTHUMP00000162391|OTTHUMP00000190862|SKNY protein|neutral sphingomyelinase 3|neutral sphingomyelinase III|sphingomyelin phosphodiesterase 4 protein-coding 1347939 SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A 1580863 14574404,12442002,16344560,15489334,12477932 10924 CH471051,NM_006714,AL732431,AK000184,AK301365,BC018999,BC066591,CR620022,DA510600,DC414598,Y08136 NP_006705,CAI23631,EAW48163,EAW48164,BAH13465,AAH18999,CAA69330,Q92484,ABM83133,ABM86328 Hs.486357 ASM3A|ASML3a|FLJ20177|yR36GH4.1 0610010C24Rik|ASM-like phosphodiesterase 3a|acid sphingomyelinase-like phosphodiesterase 3a protein-coding 1316663 SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B 1580863 16712791,16710414,15489334,12477932 27293 NM_014474,NM_001009568,AL512288,CH471059,AK293489,AK293566,AK301349,BC014444,BQ011468,BX389470,CB160850,CR613549,Y08134,AK316500 NP_055289,NP_001009568,CAI14293,CAI14294,CAI14295,EAX07721,EAX07722,EAX07723,BAG56976,BAG57037,BAG62896,AAH14444,CAA69328,Q92485,BAH14871 Hs.123659 ASML3B ASM-like phosphodiesterase 3b|OTTHUMP00000004006|acid sphingomyelinase-like phosphodiesterase 3b protein-coding 736270 SMPX small muscle protein, X-linked 1580863 10598820,15489334,12477932,11401441 23676 NM_014332,AL772370,AL772392,CH471074,AF129505,AJ250584,AK312134,BC005948 NP_055147,CAH71012,EAW98980,EAW98981,AAF19343,CAC08492,BAG35070,AAH05948,Q9UHP9 Hs.86492 small muscular protein|stretch-responsive skeletal muscle protein protein-coding 1349580 SMR3A submaxillary gland androgen regulated protein 3A 17512016,12477932,9354371,18410445 26952 NM_012390,AC106884,CH471057,D89501,AK312075,BC140927,CA946421,CD722466,CD722957 NP_036522,EAX05618,BAA13971,BAG35011,AAI40928,Q99954 Hs.701334 P-B1|PBI|PRL5|PROL5 proline rich 5 (salivary)|proline- rich protein 5|proline-rich protein 5|proline-rich protein PBI|protein homologous to salivary proline-rich protein P-B|submaxillary gland androgen regulated protein 3 homolog A|submaxillary gland androgen-regulated protein 3A protein-coding 1345383 SMR3B submaxillary gland androgen regulated protein 3B 7982889,15489334,12477932,10731710,1747107,479131 10879 NM_006685,AB031740,AC106884,CH471057,BC015327,BC094707,BC144529,BX487896,CB958582,D29833 NP_006676,BAA88517,EAX05619,AAH15327,AAH94707,AAI44530,BAA06213,P02814,Q504X8 Hs.650650 MGC104379|P-B|PBII|PRL3|PROL3|SMR1B OTTHUMP00000219876|proline rich 3|proline-rich peptide P-B|proline-rich protein 3|salivary proline-rich protein|submaxillary gland androgen regulated protein 3 homolog B|submaxillary gland androgen-regulated protein 3B protein-coding 1345734 SMS spermine synthase The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes an ubiquitous enzyme of polyamine metabolism. [provided by RefSeq] 1580863 9299240,7546290,19206178,18550699,15772651,15592455,15489334,14508504,12665801,12477932,9847074,8826448,5823961,16169070,19277733,20059804 6611 NM_004595,NG_009228,CH471074,U53331,U72789,AD001528,AK293455,AK313834,BC009898,BC085621,CR591187,CR591649,CR591729,CR594549,CR598032,CR606127,CR607592,CR608120,CR617125,CR617235,CR619263,CR620002,CR624184,CR624838,Z49099,U73023 NP_004586,EAW98984,EAW98985,EAW98986,AAD08634,AAB61308,BAG56951,BAG36567,AAH09898,AAH85621,CAA88921,P52788,ABW03798 Hs.727552 MRSR|SPMSY|SRS|SpS OTTHUMP00000023048|spermidine aminopropyltransferase|spermine synthase protein-coding 1320987 SMTN smoothelin This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in three transcript variants. [provided by RefSeq] 1580863 9244445,9373149,9113392,8125298,20716166,21164287,8707825,19252475,15302935,14702039,12477932,12176134,11316948,10627276,10591208,10550614,10023782,10023778,9847074,16919237,19950405,20154589,20636795 6525 NM_134270,NM_006932,AC005005,AF115570,CH471095,AB209643,AF064238,AJ010306,AK092684,AK095916,AK095930,AK096953,AK128627,NM_134269,AK128719,AK225648,AK293681,AK295418,AK300064,AK300854,AK301289,AK303424,AK304084,AK307627,AK309502,AY061971,AY061972,BC034237,CR606811,Y13492,Z49989 NP_599031,NP_599032,NP_008863,AAD15619,AAF03562,AAF03563,EAW59925,EAW59926,EAW59927,EAW59928,EAW59929,EAW59930,EAW59931,EAW59932,EAW59933,BAD92880,AAF01481,CAA09077,BAG52594,BAG53165,BAG53168,BAG53398,BAG54703,BAG54716,BAG57122,BAG58368,BAG61871,BAG62504,BAG62847,BAG64475,BAG64991,AAL36149,AAL36150,AAH34237,CAA73884,CAA90281,P53814,Q59F18,Q96EQ7,ABM82102,ABM85284 Hs.149098 FLJ35365|FLJ38597 OTTHUMP00000199384|smoothelin protein-coding 1601815 SMTNL1 smoothelin-like 1 15327999,8889549,18310078,20634291 219537 NM_001105565,AP002893 NP_001099035,A8MU46,AAI72381 Hs.68756 CHASM calponin homology-associated smooth muscle protein|smoothelin-like protein 1 protein-coding 1605229 SMTNL2 smoothelin-like 2 16344560,12477932 342527 NM_198501,NM_001114974,AC118754,CH471108,AK124452,BC105050,BC110859,BC112177,DA822419,DB557882 NP_940903,NP_001108446,EAW90429,EAW90430,EAW90431,BAC85855,AAI05051,AAI10860,AAI12178,Q2TAL5 Hs.441709 FLJ42461|MGC131847|MGC138382 smoothelin-like protein 2 protein-coding 1343755 SMU1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 724659 19615732,20379614,17041588,15570572,15489334,15164053,14702039,12477932,11438655,11410362,9373149,8125298 724659 55234 NM_018225,AL162590,CH471071,AK001667,AK001732,AK022032,AK225559,AK225587,AK304767,AL512690,BC002876,BC110654,CR595641,CR596512,CR605019,EF011613 NP_060695,CAI15554,EAW58522,EAW58523,BAA91822,BAG65522,AAH02876,AAI10655,ABK41103,Q2TAY7,ABM83931,ABM87250 Hs.655351 BWD|DKFZp761L0916|FLJ10805|FLJ10870|FLJ11970|MGC117363|RP11-54K16.3|SMU-1|fSAP57 WD40 repeat-containing protein SMU1|brain-enriched WD-repeat protein|functional spliceosome-associated protein 57|smu-1 suppressor of mec-8 and unc-52 protein homolog protein-coding 1606814 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 SMUG1 is a glycosylase that removes uracil from single- and double-stranded DNA in nuclear chromatin, thus contributing to base excision repair.[supplied by OMIM] 16189514,10583946,12161446,12718543,11937636,19403629,19365746,19324873,18835277,18270339,17537817,17150750,17029639,16407970,15489334,15466595,14702039,12820976,12477932,11526119,10074426,9373149,8125298,16103149,20574454,20226869,20522537 23583 AC023794,AF489699,CH471054,AF125182,AK001235,AK001789,AK091468,AK222473,AK290274,BC000417,BC088352,BC105607,NM_014311,CR591967,CR595676,CR609554 NP_055126,AAL86910,EAW96752,EAW96753,EAW96754,EAW96755,EAW96756,EAW96757,AAD17301,BAA91571,BAC03670,BAD96193,BAF82963,AAH00417,AAH88352,AAI05608,Q53HV7 Hs.632721 FDG|HMUDG|MGC104370|UNG3 OTTHUMP00000217434|OTTHUMP00000217438|OTTHUMP00000217440|single-strand selective monofunctional uracil DNA glycosylase protein-coding 1603623 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. A similar protein in Xenopus is involved in embryonic pattern formation. Alternative splicing results in multiple transcript variants encoding different isoforms. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq] 2298922,2302550 15252135,15138260,14722617,14702039,14657501,12853948,12690205,12519765,12477932,12151385,10997877,10708948,9110174,8619474,18641638,17894482,14657019,15820682,15817471,20844743,14701756,15621726,19379695,19914168,20228798,19937093,11278251,16720724,16299379,10458166,19318350,18927080,18380791,18208356,17676934,17510966,17190792,16611643,16540523,16472676,15761153,15710384,16622418,8889548 2298922,2302550 57154 NM_020429,AC004893,AC073468,AC114500,CH236956,CH471091,AB046845,AF199364,AF464850,AK057024,AK126471,AL833673,AL834242,AY007164,BC008574,NM_181349,BC136804,BC144414,BC152468,BM981719,DB727777,NM_001199847 NP_851994,NP_065162,AAC62434,EAL23885,EAL23886,EAW76686,EAW76687,EAW76688,EAW76689,EAW76690,BAB13451,AAF08298,AAM90910,CAD38919,AAI36805,AAI44415,AAI52469,Q547Q3,Q8NDD8,Q9HCE7,NP_001186776 Hs.189329 KIAA1625 E3 ubiquitin ligase SMURF1|E3 ubiquitin-protein ligase SMURF1|SMAD-specific E3 ubiquitin-protein ligase 1|Smad ubiquitination regulatory factor 1|Smad-specific E3 ubiquitin ligase 1|hSMURF1 protein-coding 1345810 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 1580863,2298922,2302550 11016919,11158580,19122240,11163210,19481076,19255252,19155312,18927080,18852296,18842593,18821706,18671942,18514338,18353873,18181147,18052755,16641086,16061177,15862290,15761153,15574587,15489334,15342556,15231748,15146197,15138260,14722617,14702039,12477932,11389444,18448069,14562029,17719543,14755250,15621726,14701756,17318188,19379695,19557001,19805145,19898560,15221015,15496141 2298922,2302550 64750 NM_022739,AC009994,AC132812,CH471109,AF301463,AF310676,AK002019,AY014180,BC009527,BC051283,BC093876,BC111945,BP363931,CB267500,CN310238,CN370887,CR936721 NP_073576,EAW94193,EAW94194,EAW94195,AAG25641,AAG45422,AAG50421,AAH09527,AAH93876,AAI11946,Q96DE7,Q9HAU4 Hs.515011 DKFZp686F0270|MGC138150 E3 ubiquitin ligase SMURF2|E3 ubiquitin-protein ligase SMURF2|SMAD ubiquitination regulatory factor 2|SMAD-specific E3 ubiquitin-protein ligase 2|hSMURF2 protein-coding 1312941 SMYD1 SET and MYND domain containing 1 1580757 19162039,15489334,14702039,12858532,12477932,12011100,11923873,7590968,20379614 1580757 150572 NM_198274,AC092836,CH471215,AF086123,AK022290,AK091724,AL832035,AY518933,AY518934,BC017915,BC126191,BX647878 NP_938015,EAW77077,EAW77078,EAW77079,EAW77080,BAC03732,CAI46139,AAT44535,AAT44536,AAI26192,CAI46077,Q5GJ32,Q5GJ33,Q5HYE8,Q8NB12,ACE87349,ACE86665,ADR83018 Hs.516176 BOP|KMT3D|ZMYND18|ZMYND22 CD8 beta opposite|OTTHUMP00000207183|OTTHUMP00000207184|SET and MYND domain-containing protein 1|zinc finger, MYND domain containing 18 protein-coding 1354091 SMYD2 SET and MYND domain containing 2 SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM] 1580863,2316155 17353931,19240061,18065756,16805913,16710414,15743541,15489334,12477932,20870719,9110174,8619474,17108971,19423649 2316155 56950 NM_020197,AL929236,CH471100,AF070592,AF226053,AK098683,AK313868,AW474469,BC017080,BC028104,BC039890,BC049367,BC057793,BC068511,BC094747,BC098133,BC098276,BC098305,BC098335,BG723585,CR589978,CR592315,CR613242,CR617804,CR622801 NP_064582,CAH70920,EAW93355,EAW93356,EAW93357,EAW93358,AAF86953,BAG36596,AAH17080,AAH28104,AAH49367,AAH98133,AAH98276,AAH98335,Q05C86,Q96AI4,Q9NRG4,AAH98305,CAQ08175 Hs.66170 HSKM-B|KMT3C|MGC119305|ZMYND14 SET and MYND domain-containing protein 2|lysine N-methyltransferase 3C|zinc finger, MYND domain containing 14 protein-coding 1348508 SMYD3 SET and MYND domain containing 3 SMYD3 is a histone methyltransferase that plays a role in transcriptional regulation as a member of an RNA polymerase complex.[supplied by OMIM] 1580863 15342556,19509295,20379614,14667819,17353931,19321255,18452649,18294291,18027872,18006819,17998933,17963297,17431393,16710414,16441421,16155568,16081583,15489334,15235609,14702039,12477932,20725992,19403031 64754 AW173130,BI916760,BP231249,NM_001167740,NM_022743,AC092801,AC094022,AC118555,AL356583,AL358859,AL358941,AL445468,AL512412,CH471148,AB057595,AK023594,AK024733,AK289605,AY186742,BC017079,BC031010,BC107725,CR597338,CR600947,CR604227,CR621503 NP_001161212,NP_073580,CAI16395,CAI15419,CAI16630,CAI14746,EAW77139,EAW77140,EAW77141,EAW77142,EAW77143,EAW77144,BAB86333,BAG51208,BAB14981,BAF82294,AAO31695,AAH17079,AAH31010,AAI07726,Q3B7A0,Q9H7B4,ABM83506,ABM86723 Hs.567571 FLJ21080|KMT3E|MGC104324|ZMYND1|ZNFN3A1|bA74P14.1 OTTHUMP00000038321|SET and MYND domain-containing protein 3|bA74P14.1 (novel protein)|zinc finger MYND domain-containing protein 1|zinc finger protein, subfamily 3A (MYND domain containing), 1|zinc finger, MYND domain containing 1 protein-coding 1316528 SMYD4 SET and MYND domain containing 4 1580863 19383909,20705733,16344560,15489334,15146197,14702039,12477932,11752456,11572484,8889548,20379614 114826 NM_052928,AC130689,CH471108,AB067523,AK057769,AK092149,AK095369,AL137345,AV700545,BC035077,BM676597,CN352185,CR987176,DB219337 NP_443160,EAW90576,BAB67829,BAB71564,BAC04538,AAH35077,Q8IYR2 Hs.514602 KIAA1936|ZMYND21 SET and MYND domain-containing protein 4 protein-coding 1319335 SMYD5 SMYD family member 5 8754834,15489334,12477932 10322 NM_006062,AC010913,CH471053,BC009484,BC073806,CR592310,CR592777,DC303248,U50383,AK300779,AK301809 NP_006053,EAW99744,EAW99745,AAH73806,AAB38131,Q6GMV2,ABZ92291,BAG62443,BAG63258 Hs.631882 NN8-4AG|RAI15|RRG1|ZMYND23 SET and MYND domain-containing protein 5|retinoic acid induced 15|retinoic acid responsive|retinoic acid-induced protein 15 protein-coding 1347076 SNAI1 snail homolog 1 (Drosophila) The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq] 1580863 20543867,20628624,20634891,16328348,16207734,16203744,16169460,15836774,15742334,15712635,15647282,15631989,15489334,15467754,15448698,15314165,15302935,15286702,15075229,15026811,14507651,12832491,12668723,12632084,12477932,12161443,12082640,11780052,11245431,10773451,10655587,10585766,10543399,19004823,16502042,17353931,19440385,19412634,19381684,19347028,19269083,19245592,19198871,19124656,19107228,19046938,19010907,18832382,18799618,18691339,18676743,18559496,18554584,18469861,18321996,18234959,18089802,18043286,18026186,17952120,17914115,17724139,17692821,17616667,17296734,17072303,17060462,16936774,16858414,16568079,20166136,20150431,20397042,20957493,20562920,16344560,14673164,20959806,20953189,19860811,20211142,20489148,20138990,20348013,20514449,20576520,17545014,18519590,19386897,19411070,19533388,19604397,19641025,19695091,19784072,19789323,19795442,19802011,19821482,19861116,19887480,19915148,19923321,19955572,20091050 6615 NM_005985,AF155233,AF177731,AJ245657,AJ245658,AJ245659,AL121712,CH471077,AF125377,AF131208,AK313228,BC012910,BI822180,CR591963,CR594531,CR596163,CR598990,CR600523,CR603151,CR607902,CR608397,CR614923,CR621605,CR622459,DA972913,HI422754 NP_005976,AAD52986,AAD52996,CAB52414,CAC07340,EAW75640,AAD17332,AAF32527,BAG36039,AAH12910,O95863,ABM82525,ABM85719,CBX55848 Hs.48029 SLUGH2|SNA|SNAH|dJ710H13.1 protein sna|protein snail homolog 1|snail 1 homolog|snail 1 zinc finger protein|snail 1, zinc finger protein|zinc finger protein SNAI1 protein-coding 1352063 SNAI1L1 snail homolog 1 (Drosophila)-like 1 16804902,12151403,10585766,10543399,9847074,19277896 10415 NG_000884,AC006385,AF153502,AJ245660 SNAI1L|SNAI1L1|SNAI1P snail homolog 1 like 1 (drosophila) pseudo 735659 SNAI2 snail homolog 2 (Drosophila) This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq] 1600041,1580863 19381684,19502595,19681038,19751508,19756381,19784072,19821482,20019845,20101232,20128911,9182671,10866665,19448627,19389926,19046938,18853422,18799618,18716062,18685621,18663143,18628477,18588516,18485278,18160708,18056415,17984306,17724139,17194444,16952353,20150431,20809941,20138990,20418652,20622260,20564361,20509143,16924233,16717446,16707493,16541421,16169465,15737616,15734731,15709186,15489334,15337769,15314165,12477932,12444107,11912130,10518215,10479723,9721220,9373149,9337409,8125298,20565806,20634891,20503457,20594328 1600041 6591 NM_003068,NG_012130,AC013701,AF042001,AF084243,CH471068,AA410443,AK223368,AK312661,BC014890,BC015895,BG706203,CR605323,CR608999,CR610096,CR611662,CR616026,U97060 NP_003059,AAC34288,AAD55240,EAW86700,BAD97088,BAG35543,AAH14890,AAH15895,AAB58705,O00514,O43623,Q53FC1,ABZ92391 Hs.360174 MGC10182|SLUG|SLUGH1|WS2D OTTHUMP00000195093|neural crest transcription factor SLUG|protein snail homolog 2|slug (chicken homolog), zinc finger protein|snail 2|zinc finger protein SNAI2 protein-coding 1320115 SNAI3 snail homolog 3 (Drosophila) SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM] 12579345,12477932 333929 NM_178310,AC138028,CH471184,BC041461,BC107058,CR616997 NP_840101,EAW66765,AAH41461,AAI07059,Q3KNW1 Hs.673548 MGC129606|SMUC|SNAIL3|ZNF293|Zfp293 protein snail homolog 3|zinc finger protein 293|zinc finger protein SNAI3 protein-coding 1604652 SNAP23 synaptosomal-associated protein, 23kDa Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq] 2302393,2302397,2312656 20562859,16189514,10839363,9727496,8663154,18029348,19086053,18665925,18457912,17825825,17485553,15635093,11031247,11252894,11994746,18588921,20416077,19910495,16180048,15489334,12930825,12877659,12832401,12828989,12773094,12665801,12651853,12556468,12551899,12477932,12475239,12434312,12209004,12130530,12124380,12121992,11842301,11444845,11354632,11029050,11001914,10820264,10713150,10588641,10373452,10036234,9815132,9701566,9693005,9614185,9507000,9168999,9070898,12853575,9852078,15029241,16272324,15610015,20519516,20460426 2302393,2302397,2312656 8773 NM_003825,NM_130798,AC018362,AJ278972,AJ278973,AJ278974,CH471125,AJ011915,AK290152,AK313161,AK315279,BC000148,BC003686,BC022890,BI918294,BT006916,CR457212,CR608285,U55936,Y09567,Y09568 NP_003816,NP_570710,CAC07504,EAW92556,EAW92557,EAW92558,EAW92559,CAA09864,BAF82841,BAG35979,AAH00148,AAH03686,AAH22890,AAP35562,CAG33493,AAC50537,CAA70760,CAA70761,O00161,ABM85012 Hs.728237 HsT17016|SNAP-23|SNAP23A|SNAP23B OTTHUMP00000161263|SNAP-23|synaptosomal-associated protein 23|vesicle-membrane fusion protein SNAP-23 protein-coding 1351785 SNAP23P synaptosomal-associated protein, 23kDa pseudogene 170549 NG_001055,AL121903 dJ155G6.3 pseudo 734151 SNAP25 synaptosomal-associated protein, 25kDa Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq] 2311121,1579958 20599404,20677014,20679152,17207965,20950795,18512733,7553862,18457912,18347838,18250960,18191416,18041776,17908175,17877635,17501935,17455213,17427194,17325714,17325713,16939418,16801949,16672379,16381901,16189514,16169070,16088329,15823421,15752769,15717291,15603740,15592454,15489336,15489334,15121806,15007392,14709554,14702039,12853575,12847087,12814864,12691775,12660803,12499044,12477932,12475239,12459461,12403834,12145319,12114505,12062043,11920846,11832947,11832227,11780052,11524423,11509230,11493665,11438521,11438518,11076863,10954418,10906076,10886332,10825299,10692432,10644766,10625663,10373452,10336434,10195194,10085240,9817754,9556632,9452464,9395480,9373149,9349529,9168999,8999968,8663154,8661740,8125298,8112622,8056350,7961655,7768895,7622514,12200427,9030619,10194441,9852078,10449403,19806613,8692999,8760387,15537656,19506906,19352218,19193342,19156168,19156089,19132710,19125158,19099826,19086053,19058789,19004828,18821566,18821565,18726138,18658150,18633321,18617262,18596234,18519826,9325254,10777571,15635093,17363971,18957941,19557857,19695183,19713048,19721846,19724880,19858760,19913510,20333500,20379614,16722236,20519516 2311121,1579958 6616 NM_003081,NM_130811,AL023913,AL354824,CH471133,AK026732,AK090857,AK094560,AK098347,AK098767,AK223617,AK289647,AK314359,BC010647,BI604120,BT019684,BX647443,CR593483,CR595223,CR603170,CR605011,CR606156,CR607483,CR609324,CR610237,CR614022,CR619486,CR619659,CR624018,CR624370,D21267,L19760,L19761 ADQ32436,NP_003072,NP_570824,CAB42860,CAC34534,CAD56158,EAX10346,EAX10347,EAX10348,EAX10349,EAX10350,EAX10351,EAX10352,EAX10353,BAD97337,BAF82336,BAG36991,AAH10647,AAV38490,BAA22370,AAC37545,AAC37546,P60880,CAL38108,CAL38529 Hs.167317 FLJ23079|RIC-4|RIC4|SEC9|SNAP|SNAP-25|bA416N4.2|dJ1068F16.2 SUP|resistance to inhibitors of cholinesterase 4 homolog|super protein|synaptosomal-associated 25 kDa protein|synaptosomal-associated protein|synaptosomal-associated protein 25 protein-coding 735746 SNAP29 synaptosomal-associated protein, 29kDa This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq] 1299477,1580863 10839363,9852078,19350501,19086053,16189514,15968592,15890653,15489334,15461802,15371016,12853575,12477932,11707603,11444821,11423532,11317222,10591208,9880331,16009131,18029348,20562859,20305790 1299477 9342 NM_004782,NG_012152,AC007308,AF278704,CH471176,AF115436,AK024704,BC009715,BF435261,BG773022,BT007357,CA427899,CR456582,CR617204 NP_004773,AAF91421,EAX02935,AAD11436,AAH09715,AAP36021,CAG30468,O95721,CAK54612,CAK54911 Hs.108002,Hs.701035 CEDNIK|FLJ21051|SNAP-29 OTTHUMP00000198533|soluble 29 kDa NSF attachment protein|synaptosomal-associated protein 29|vesicle-membrane fusion protein SNAP-29 protein-coding 1601832 SNAP47 synaptosomal-associated protein, 47kDa 16621800,14702039,12477932 116841 NM_053052,AL136378,AL731702,CH471098,AK054633,AY090635,BC001332,BC004418,BC007786,BC011145,BC014059,BC018760,BC025231,BX648570,CR600713,CR603918,CR605301,CR611957,CR613612,CR626436,FJ236305 NP_444280,CAI23069,CAI23070,CAI23071,CAI23072,CAI21075,CAI21076,EAW69816,EAW69817,BAB70779,AAM09082,AAH01332,AAH04418,AAH07786,AAH11145,AAH14059,AAH18760,AAH25231,CAI45994,ACI45237,Q5SQN1,Q5TBZ4 Hs.325081 C1orf142|DKFZp686M10160|FLJ12517|HEL170|SNAP-47|SVAP1 OTTHUMP00000035834|epididymis luminal protein 170|synaptosomal-associated 47 kDa protein|synaptosomal-associated protein 47 protein-coding 731271 SNAP91 synaptosomal-associated protein, 91kDa homolog (mouse) 1580863 19450545,19086053,16344560,15555551,15489334,15345747,14574404,12847086,12807910,12750376,12732633,12493563,12477932,11779129,10748223,10579202,10436022,10430869,9734811,9110174,8619474,8063760,20379614,20511563 9892 NR_026669,NM_014841,AL109915,CH471051,AB014556,AF054993,AK289582,AK294556,AK294898,BC036650,BC044579,BC060818,CR749348,DA323323,DB480068 NP_055656,CAI19452,CAI19453,EAW48656,EAW48657,EAW48658,EAW48659,EAW48660,EAW48661,BAA31631,AAC09352,BAF82271,BAH11808,BAH11918,AAH60818,CAH18201,CAB89292,O60641 Hs.368046 AP180|CALM|DKFZp781O0519|KIAA0656 91 kDa synaptosomal-associated protein|OTTHUMP00000016794|assembly protein, 180kDa|clathrin coat assembly protein AP180|clathrin coat-associated protein AP180|phosphoprotein F1-20 protein-coding 1312249 SNAPC1 small nuclear RNA activating complex, polypeptide 1, 43kDa 1580863 9003788,15955816,15489334,12621023,12477932,11094070,11056176,9644240,8524284,7715707 6617 NM_003082,AL137129,CH471061,AK314933,BC014984,BC019038,CR592749,CR614677,CR625836,CR626257,U44754,Z47542 NP_003073,EAW80810,BAG37439,AAH14984,AAH19038,AAC50358,CAA87590,Q16533,ABM83609,ABM86852 Hs.179312 PTFgamma|SNAP43 PSE-binding factor subunit gamma|PTF subunit gamma|SNAPc 43 kDa subunit|SNAPc subunit 1|proximal sequence element-binding transcription factor subunit gamma|small nuclear RNA-activating complex polypeptide 1|snRNA-activating protein complex 43 kDa subunit|snRNA-activating protein complex subunit 1 protein-coding 1312116 SNAPC2 small nuclear RNA activating complex, polypeptide 2, 45kDa 1580863 7715707,8524284,18356157,15489334,12621023,12477932,11318610,11056176,9418884,9373149,8633057,8125298,15342556,16769183,9003788,9488448,9732265 6618 AC010336,CH471139,AK222926,AK314878,BC011868,BX647416,CR591186,CR595127,CR597820,CR598669,CR601455,CR603597,CR606420,CR607552,CR612371,CR612830,CR612879,CR615448,CR622556,CR623126,U44755,U44898,NM_003083,BP234322,CF454397,EC481022,NR_030717 Q13487,NP_003074,EAW68957,EAW68958,BAD96646,BAG37393,AAH11868,AAC50359,AAB06230,Q53GK5,ABZ92146,ABZ92431 Hs.631860 PTFDELTA|PTFdelta|SNAP45 PSE-binding factor subunit delta|PTF subunit delta|SNAPC 45 kDa subunit|SNAPc subunit 2|proximal sequence element-binding transcription factor subunit delta|small nuclear RNA-activating complex polypeptide 2|snRNA-activating protein complex 45 kDa subunit|snRNA-activating protein complex subunit 2 protein-coding 1313043 SNAPC3 small nuclear RNA activating complex, polypeptide 3, 50kDa 1580863 9003788,17474147,7715707,16901896,15489334,15164053,12621023,12477932,11094070,11056176,8816454,900378 6619 NM_001039697,AL441925,CH471071,AK293310,BC014985,BC036031,BC108743,BC121011,BC121012,CR624760,U66413,U71300 EAW58680,NP_001034786,CAI13284,CAI13285,CAI13286,EAW58681,EAW58682,BAG56830,AAH14985,AAI08744,AAI21012,AAI21013,AAD09214,AAC50948,Q5T284,Q92966,ABZ92234 Hs.546299 MGC132011|MGC33124|PTFbeta|SNAP50 OTTHUMP00000021072|PSE-binding factor subunit beta|PTF subunit beta|SNAPc 50 kDa subunit|SNAPc subunit 3|proximal sequence element-binding transcription factor subunit beta|small nuclear RNA-activating complex polypeptide 3|snRNA-activating protein complex 50 kDa subunit|snRNA-activating protein complex subunit 3 protein-coding 1319171 SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa 7715707,9418884,11056176,17670747,15955816,15302935,15164053,14702039,12621023,12477932,11856838,20562859,21102463,17643375,20237496,20379614,20463747 6621 NM_003086,AL592301,CH471090,AF032387,AK023513,BC013606,CR618502,CT003125,HI574188 NP_003077,CAI13935,EAW88225,EAW88226,EAW88227,AAC02972,Q5SXM2,AAI72433,CBX47583 Hs.113265 FLJ13451|PTFalpha|SNAP190 PSE-binding factor subunit alpha|PTF subunit alpha|SNAPc 190 kDa subunit|SNAPc subunit 4|proximal sequence element-binding transcription factor subunit alpha|snRNA-activating protein complex 190 kDa subunit|snRNA-activating protein complex subunit 4 protein-coding 1313202 SNAPC5 small nuclear RNA activating complex, polypeptide 5, 19kDa 1580863 9732265,16344560,16189514,15489334,15146197,12477932,11056176,15867431 10302 NM_006049,AC116913,CH471082,AF093593,AK024763,AK312018,BC014315,CD685245,CN347010,CR614188,DB037177,AK292051 NP_006040,EAW77770,EAW77771,EAW77772,AAC61873,AAH14315,O75971,BAF84740 Hs.30174 SNAP19 OTTHUMP00000164251|SNAPc 19 kDa subunit|SNAPc subunit 5|small nuclear RNA-activating complex polypeptide 5|snRNA-activating protein complex 19 kDa subunit|snRNA-activating protein complex subunit 5 protein-coding 1351269 SNAPIN SNAP-associated protein SNAPAP is a component of the SNARE complex of proteins that is required for synaptic vesicle docking and fusion (Ilardi et al., 1999 [PubMed 10195194]). SNAPAP is also a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM] 1580863 17101137,17702749,20237496,12477932,12191018,11283605,15066994,10195194,19515809,19168546,17684020,16980328,16169070,15862967,15635093,15546961,15489334,15231748,15102850,14702039,12923531,12877659,12809483,12659861,12576321 23557 NM_012437,AL592150,CH471121,AA173972,AF086837,AK024555,BC000761,BC004494,BM051828,BT006753,CR590362,CR610984 NP_036569,CAI18797,EAW53287,EAW53288,EAW53289,AAD11417,BAB14927,AAH00761,AAH04494,AAP35399,O95295 Hs.32018 SNAPAP SNAP-25-binding protein|SNARE associated protein snapin|SNARE-associated protein Snapin|synaptosomal-associated protein 25-binding protein protein-coding 2303858 SNAR-A1 small ILF3/NF90-associated RNA A1 17855395 100126798 NR_004435,AC124853,EU071051 Hs.579631 SNAR-A53113498 snrna 2301580 SNAR-A10 small ILF3/NF90-associated RNA A10 17855395 100170216 NR_024229,AC010624,EU071060 Hs.723094 snrna 2301586 SNAR-A11 small ILF3/NF90-associated RNA A11 17855395 100169954 NR_024225,AC010624,EU071061 Hs.723094 snrna 2303854 SNAR-A12 small ILF3/NF90-associated RNA A12 17855395 100126800 NR_004437,AC124853,EU071062 Hs.707967 SNAR-A53102747 snrna 2301582 SNAR-A13 small ILF3/NF90-associated RNA A13 17855395 100169959 NR_024216,AC124853,EU071063 Hs.723093 snrna 2301594 SNAR-A14 small ILF3/NF90-associated RNA A14 17855395 100191063 NR_024242,AC010624 Hs.723094 snrna 2303857 SNAR-A2 small ILF3/NF90-associated RNA A2 17855395 100126799 NR_004436,AC124853,EU071052 Hs.723085 SNAR-A53129250 snrna 2301589 SNAR-A3 small ILF3/NF90-associated RNA A3 17855395 100169951 NR_024214,AC124853,EU071053 Hs.723094 snrna 2301584 SNAR-A4 small ILF3/NF90-associated RNA A4 17855395 100169956 NR_024215,AC010624,EU071054 Hs.717307 snrna 2301588 SNAR-A5 small ILF3/NF90-associated RNA A5 17855395 100169952 NR_024223,AC010624,EU071055 Hs.723094 snrna 2301583 SNAR-A6 small ILF3/NF90-associated RNA A6 17855395 100169957 NR_024227,AC010624,EU071056 Hs.723094 snrna 2301587 SNAR-A7 small ILF3/NF90-associated RNA A7 17855395 100169953 NR_024224,AC010624,EU071057 Hs.723094 snrna 2296068 SNAR-A8 small ILF3/NF90-associated RNA A8 17855395 100169958 NR_024228,AC010624,EU071058 Hs.723094 snrna 2301585 SNAR-A9 small ILF3/NF90-associated RNA A9 17855395 100169955 NR_024226,AC010624,EU071059 Hs.723094 snrna 2301575 SNAR-B1 small ILF3/NF90-associated RNA B1 17855395 100170224 NR_024231,AC010624,EU071064 Hs.446545 snrna 2301579 SNAR-B2 small ILF3/NF90-associated RNA B2 17855395 100170217 NR_024230,AC010624,EU071065 Hs.723095 snrna 2301574 SNAR-C1 small ILF3/NF90-associated RNA C1 17855395 100170225 NR_024220,AC124853,EU071066 Hs.717052 snrna 2301578 SNAR-C2 small ILF3/NF90-associated RNA C2 17855395 100170218 NR_024217,AC124853,EU071067 Hs.723092 snrna 2301573 SNAR-C3 small ILF3/NF90-associated RNA C3 17855395 100170226 NR_024221,AC124853,EU071068 Hs.467061 snrna 2301577 SNAR-C4 small ILF3/NF90-associated RNA C4 17855395 100170219 NR_024218,AC124853,EU071069 Hs.560634 snrna 2301576 SNAR-C5 small ILF3/NF90-associated RNA C5 17855395 100170223 NR_024219,AC124853,EU071070 Hs.717052 snrna 2301572 SNAR-D small ILF3/NF90-associated RNA D 17855395 100170227 NR_024243,AC010624,EU071071 Hs.717309 scrna 2301774 SNAR-E small ILF3/NF90-associated RNA E 17855395 100170220 NR_024258,AC008622,EU071072 Hs.541243 snrna 2303859 SNAR-F small ILF3/NF90-associated RNA F 17855395 100126781 NR_004384,AC008743,EU071073 Hs.707968 snrna 2303860 SNAR-G1 small ILF3/NF90-associated RNA G1 17855395 100126780 NR_004383,AC008687,EU071074 Hs.621635 snrna 2301571 SNAR-G2 small ILF3/NF90-associated RNA G2 17855395 100170228 NR_024244,AC008687,EU071075 Hs.717308 snrna 2303850 SNAR-H small ILF3/NF90-associated RNA H 17855395 100170221 NR_024342,AC073628,EU071076 Hs.717311 snaR-2 snrna 2303849 SNAR-I small ILF3/NF90-associated RNA I 17855395 100170222 NR_024343,AC092952,EU071077 Hs.717310 snaR-3 snrna 733186 SNCA synuclein, alpha (non A4 component of amyloid precursor) Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Four alternatively spliced transcripts encoding two different isoforms have been identified for this gene. [provided by RefSeq] 1302528,631849,1302527,1300048,730239,1580863,1302872,1302570,1302583 20089532,20463956,20533263,20664293,20697102,20711177,18221373,18541383,20798282,20805224,20828147,20876472,20947801,21044948,21046180,21058943,21060011,16714300,17576801,17573347,17558898,17554782,17531952,17531291,17530780,17489854,17465029,17451452,17387688,17376994,17374364,17374033,17374032,17373725,17335904,17325715,17309880,17292657,17291816,17254569,17222106,17209570,17209557,17199224,17176082,17174013,17166628,17156376,17156375,17078049,17077307,17055279,17049244,17017543,17017516,17012257,17012252,17010992,17005870,16997873,16981712,16959793,16953580,18702517,18692132,18661559,18650345,18625222,18622040,18617532,18614564,18606870,18571778,18568448,18566453,18562315,18541113,18539297,18505736,18494470,18492487,18491043,18485051,18463504,18463503,18451726,18449945,18440504,18436957,18436529,18423664,18417705,18413475,18404644,18393229,18390556,18382667,18369446,18362284,18346205,18704197,18702696,18343814,18335262,18329380,18322646,18322396,18322262,18314273,18295208,18291704,18282005,18261982,18261456,18258594,18245082,18211709,18210157,18195271,18195004,18182779,18182484,18179253,18178617,18162536,18162487,18070888,18065497,18061619,18039462,18036154,18031063,18018486,18018485,18018483,18005258,18000672,17985233,17982729,17963364,17955272,17918232,17904099,17873367,17872362,17868672,17853477,17785456,17714183,17712623,17708336,17706644,17692832,17683088,17681534,17675576,17653558,17625105,17603039,15671870,14645218,14627698,14596606,14593171,14583385,14572463,14506232,12973692,12928483,12923682,12923179,12900507,12893833,12885775,12868068,12868067,12867415,12859200,12859192,12857790,12819014,12815663,12815044,12807439,12807436,12784265,12783249,12752402,12727333,12722828,12716914,12714745,12684441,12672549,12672538,12661766,12598733,12586824,12576551,12558071,12551928,12541013,12534296,12534279,12493604,12477932,12428728,12428717,12377775,12367530,12358748,12352614,12351642,12239163,12220378,12217698,12151787,12145295,12138709,12124613,12122208,12115139,12096713,12084935,12070658,12062445,12059041,12044636,12042811,12025860,11956199,11900526,11893734,11889756,11852183,11823645,11821392,11814405,11814343,11813001,11812782,11812148,11790792,11751692,11748744,11744621,11742726,11724769,11701929,11687285,11683992,11603807,11588587,11532993,11487204,11472875,11447312,11438481,11425308,11376188,11357958,11331421,11292651,11279280,11261505,11227130,11207390,11173882,11162638,11156617,10852916,10818098,10764738,10617630,10506125,10464279,10417297,10407019,10319874,10092675,9750188,9462735,9197268,9163350,8895469,8248242,7802671,7601479,7601450,7558013,18634833,12121974,12695511,14550771,15556002,20887871,20423081,15064394,19826908,20550572,20634198,20685363,21084426,11943812,15672325,15671169,14657499,12716427,18676060,20148295,20554859,18975920,11698390,16176937,16959795,17408955,18980610,19157893,12958153,14507911,19651612,19580781,19576220,19576176,19535993,19526103,19507712,19501571,19476547,19475667,19470380,19412953,19410557,19405094,19404653,19361478,19356597,19345692,19328209,19295143,19291219,19289119,19261853,19224863,19224617,19219857,19205068,19198857,19196539,19183551,19164293,19151622,19146388,19141614,19139307,19135032,19126542,19115126,19101068,19074459,19071095,19070597,19049426,19047559,19032594,19027885,19022350,19018246,19004816,19002552,18985386,18973254,18955133,18951507,18852892,18852445,18848547,18843496,18775438,18751989,18708765,18704525,16947080,16934409,16930553,16896314,16896109,16882008,16847063,16824047,16806952,16794039,16780837,16762368,16752390,16687662,16679557,16679556,16678164,16651889,16611810,16609851,16606927,16606366,16604306,16595633,16567160,16543523,16524375,16520971,16516382,16500997,16464864,16455667,16410343,16406146,16403519,16399671,16358335,16344560,16338184,16330551,16330147,16297908,16291942,16269331,16250025,16242637,16239214,16227205,16216085,16166095,16110277,16081040,16051265,16037493,16020550,16020543,15981014,15978696,15976091,15955578,15944382,15941712,15939304,15935070,15935068,15917102,15911350,15896322,15895422,15863497,15845543,15840579,15817478,15791003,15767574,15765523,15755676,15732111,15731118,15718234,15717024,15685368,15684072,15591046,15590933,15590652,15576511,15544803,15542733,15541000,15522881,15522241,15502874,15502868,15498564,15496679,15489334,15465356,15459341,15455394,15451225,15451224,15365127,15364911,15338643,15333840,15317865,15304594,15300629,15289452,15282274,15265037,15247485,15236975,15234109,15207266,15180968,15159488,15155902,15135042,15132984,15109581,15103328,15096050,15078109,15050722,15028717,14997013,14996933,14987449,14755719,14742448,14711827,14699135,14692700,14690528,14657500,15671022,15670652,15641770,15632170,15628878,15628875,15622440,15615727,15615715,15596612,19816809,20029978,20077428,20534649,20371330,20392839,20506312,20524960,20599975,20668263,20855506,20842103,20959456,21044603,20334438,20448034,20540950,20693280,20697047,20140223,20169066,20489724,20540987,11312271,11850416,12406186,16096643,17200685,17635667,18824390,19182805,19220042,19248830,19369384,19444607,19460374,19460457,19498036,19526281,19540308,19548659,19549071,19562770,19596443,19609719,19630439,19632874,19646423,19651786,19653131,19655784,19722699,19747490,19759002,19762560,19771175,19833127,19833540,19834617,19837084,19845160,19847913,19855133,19875982,19878656,19890971,19891973,19892735,19895818,19900407,19915575,19915576,20026050,20036828,20041693,20043104,20070850,20071342,20074453,20074637,20106983,20114052,20121219,20132485,20152114,20226185,20334701,20379614,20381070,20409326,20437598,20445049,20445061,20478361,20513365,20615443,20696318,20977677 1302528,631849,1302527,730239,1302872,1302570,1302583 6622 FB659846,NM_007308,NG_011851,NM_001146054,NM_001146055,AC093759,AC097478,AC108208,AF163864,AY547269,AY548761,CH471057,DQ088379,NM_000345,U46901,AI815523,AK290169,AY049786,BC013293,BC108275,CR457058,CR541653,CR602374,CR622483,CR736451,D31839,DA391115,L08850,L36674,L36675 CAS01777,NP_000336,NP_009292,NP_001139526,NP_001139527,AAY40956,AAG30302,AAG30303,AAS57868,AAS83394,EAX06035,EAX06036,AAY88735,AAC02114,BAF82858,AAL15443,AAH13293,AAI08276,CAG33339,CAG46454,BAA06625,AAA16117,AAA98493,AAA98487,P37840,Q4W5L2,Q6QBS3,ABM83490,ABW03506 Hs.21374 MGC110988|NACP|PARK1|PARK4|PD1 OTTHUMP00000218549|OTTHUMP00000218551|OTTHUMP00000218552|OTTHUMP00000218553|OTTHUMP00000218554|Parkinson disease (autosomal dominant, Lewy body) 4|alpha-synuclein|alpha-synuclein, isoform NACP140|non A-beta component of AD amyloid|non-A beta component of AD amyloid|non-A4 component of amyloid|synuclein, alpha protein-coding 1319545 SNCAIP synuclein, alpha interacting protein This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but their full-length nature has yet to be determined. [provided by RefSeq] 1580863 16049031,18335262,19224863,19762560,19857556,20379614,19730898,11590439,11956199,12364339,14506261,18029348,18782602,18635553,18366718,18292964,17982729,17467279,17327361,16877356,16595633,16174773,15894486,15728840,15322916,14702039,14645218,14639662,14627698,12915459,12761037,12750386,12695511,12477932,12044636,11958831,11784370,11427316,11331421,10967135,10319874,11742726,16169070,15603737,15105460 9627 NM_005460,NG_011486,AC022101,AC113349,AC119150,AF167306,CH471086,AB110788,AB110789,AB110790,AB110791,AB110792,AB110793,AB110794,AF076929,AK001617,AK021944,AK298882,AK299687,AK304646,AK310835,BC033743,BC040552,BC094759,BM908442,DQ227317 NP_005451,AAG17478,EAW48887,EAW48888,EAW48889,EAW48890,EAW48891,BAD19017,BAD19018,BAD19019,BAD19020,BAD19021,BAD19022,BAD19023,AAD30362,BAA91791,BAG51060,BAH12894,BAH13102,BAH14231,AAH33743,AAH40552,AAH94759,ABB51162,Q6L980,Q6L981,Q6L982,Q6L983,Q9NVG1,Q9Y6H5 Hs.426463 MGC39814|SYPH1|Sph1 OTTHUMP00000159163|OTTHUMP00000222988|alpha-synuclein-interacting protein|synphilin-1 protein-coding 733869 SNCB synuclein, beta The protein encoded by this gene is highly homologous to alpha-synuclein. These proteins are abundantly expressed in the brain and putatively inhibit phospholipase D2 selectively. The encoded protein, which may play a role in neuronal plasticity, is abundant in neurofibrillary lesions of patients with Alzheimer disease. This protein has been shown to be highly expressed in the substantia nigra of the brain, a region of neuronal degeneration in patients with Parkinson disease; however, no direct relation to Parkinson disease has been established. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 20833719,9806846,18436957,18221001,17692832,17681534,17653558,17556099,17092945,16959793,16597821,15591046,15489334,15365127,12867415,12783249,12695511,12477932,11812782,11683992,11588588,11578596,10852916,9163350,8194594,7558013,11312271,16169070,20043104,20697047,19875982,20693280 6620 NM_003085,NM_001001502,NG_012131,AC091934,AF053134,AF053135,AF053136,CH471195,AB209029,AK309135,BC002902,BM543516,BM967045,BT006627,CR457027,CR594995,S69965 NP_003076,NP_001001502,AAC80286,EAW85063,EAW85064,BAD92266,AAH02902,AAP35273,CAG33308,AAB30860,Q16143,Q59GT0,ABM83896,ABM87217 Hs.90297 OTTHUMP00000223369|OTTHUMP00000223370|beta-synuclein protein-coding 1345963 SNCG synuclein, gamma (breast cancer-specific protein 1) Summary: This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq] 1580863 18849443,11812782,18544996,18498014,18424589,17681534,17534899,17373700,17369845,17016652,16989287,18803290,18728752,16821081,16816827,16786148,16597821,16596223,15596044,15591046,15489334,15342556,15073123,14576821,14556204,12970872,12873981,12783249,12667059,12566312,12559990,12477932,12446933,12121974,12072430,11806835,11746666,11585599,11259122,10852916,10828462,10619569,10192768,10048491,9801372,9737786,9700196,9373149,9044857,8125298,20670935,17353931,19429025,19351749,19016751,20595634,20697047,19706805,19859996,20043104 6623 NG_008783,AC025268,AF037207,AF044311,CH471142,AF010126,AF017256,AF411524,AK223367,AK312141,BC014098,BP346786,CR541788,CR541790,NM_003087 O76070,NP_003078,AAC36586,AAC27738,EAW80315,EAW80316,EAW80317,EAW80318,AAB64109,AAC36550,AAL05870,BAD97087,BAG35077,AAH14098,CAG46587,CAG46589,Q6FHG5,ABM83260,ABM83431,ABM86645,ABW03516 Hs.349470 BCSG1|SR breast cancer-specific gene 1 protein|gamma-synuclein|persyn|synoretin protein-coding 733231 SND1 staphylococcal nuclease and tudor domain containing 1 17353931,7651391,18029348,19435788,18453631,17909068,17632523,17576664,17081983,17081065,15695802,15627504,15592455,15489334,14702039,12917451,12819296,12477932,12234934,11691653,11124528,9809063,9003410,8756344,10644367,9874765,11259168,20225206,19913121,20628086,20643132,20562859,19615732,20379614,20442744,20484005,16914450,20211142,20877624 27044 NM_014390,AC006529,AC008039,AC009181,AC073934,CH236947,CH471070,AB209510,AK096583,AK304181,AK309014,AK312313,AY273894,BC017180,BC020423,BE799345,BM149154,BQ217773,BT009785,CR594791,CR614491,CR614603,U22055 NP_055205,EAW83635,EAW83636,EAW83637,BAD92747,BAG53329,BAG65061,BAG35238,AAP31683,AAH17180,AAP88787,AAA80488,Q59FF0,Q7KZF4,Q86UF7,ABM84558,ABM86455 Hs.122523 TDRD11|p100 100 kDa coactivator|EBNA-2 co-activator (100kD)|EBNA2 coactivator p100|p100 EBNA2 co-activator|p100 co-activator|p105 coactivator|staphylococcal nuclease domain containing 1|staphylococcal nuclease domain-containing protein 1|tudor domain-containing protein 11 protein-coding 1349916 SNED1 sushi, nidogen and EGF-like domains 1 737633 15162516,12477932 737633 25992 NM_001080437,AC005237,AC093585,AC104809,CH471063,AF439717,AF439718,AK074062,AK074075,AL050143,BC027939 NP_001073906,EAW71233,AAQ04558,AAQ04563,BAB84888,BAB84901,AAH27939,Q8TER0 Hs.471834 DKFZp586B2420|FLJ00133|SST3|Snep 6720455I24Rik homolog|IRE-BP1|insulin responsive sequence DNA binding protein-1|insulin-responsive sequence DNA-binding protein 1|sushi, nidogen and EGF-like domain-containing protein 1 protein-coding 1604833 SNF8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM] 10419521,17714434,16973552,16371348,16189514,15755741,15489334,15329733,14519844,14505570,12477932,11278625,17207965 11267 NM_007241,AC091133,CH471109,AF156102,BC008976,BC038830,CR616160,CR623268 NP_009172,EAW94698,EAW94699,EAW94700,AAD46560,AAH08976,AAH38830,Q96H20,ADQ31826 Hs.127249 Dot3|EAP30|VPS22 EAP30 subunit of ELL complex|ELL-associated protein of 30 kDa|ESCRT-II complex subunit VPS22|OTTHUMP00000218491|hVps22|vacuolar-sorting protein SNF8 protein-coding 1603226 SNHG1 small nucleolar RNA host gene 1 (non-protein coding) 16344560,14702039,12477932,9387929,8559254,7985025 23642 NR_003098,AP001160,L36587,L36588,U40580,AK095849,BC000839,BC011809,BC017253,BC027980,BC063571,CR592768,CR594343,CR596891,CR603342,CR608260,CR611689,CR613631,CR614757,CR619758,CR621214,DA856235 Hs.655643 NCRNA00057|U22HG|UHG miscrna 1603252 SNHG10 small nucleolar RNA host gene 10 (non-protein coding) 14702039,12477932,8889548 283596 NR_001459,NR_003138,AL133467,AK097876,BC036576,CA313768 Hs.448753 C14orf62|FLJ40557|NCRNA00063 miscrna 1601936 SNHG11 small nucleolar RNA host gene 11 (non-protein coding) This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq] 20532202,14702039,12477932 128439 NR_003239,AL049868,AF454939,AF497716,AK055434,BC040237 Hs.16936 C20orf198|NCRNA00101 miscrna 1605604 SNHG12 small nucleolar RNA host gene 12 (non-protein coding) 16710414,14702039,12477932 85028 BC045792,CH471059,NR_024127,AL513497,AF277181,AK092096,AY277594,BC022205,BC064589,BC068048 EAX07686,CAI22289,AAK07540,AAQ18033,Q9BXW3 Hs.718565 C1orf79|NCRNA00100|RP4-669K10.5 miscrna 1350602 SNHG3 small nucleolar RNA host gene 3 (non-protein coding) 16344560,12477932,9671460,14702039 8420 AF075052,AK311577,BC065008,CR596436,CR604404,DA135739,NR_036473,NR_002909,AJ006834,AJ006835,BC006790,BC012122,BC017334,DA044266,AK092726,AL513497,CR608897 Hs.469723 FLJ18619|NCRNA00014|RNU17C|RNU17D|U17HG|U17HG-A|U17HG-AB rna, u17d small nucleolar|small nucleolar RNA host gene (non-protein coding) 3 miscrna 1642405 SNHG3-RCC1 SNHG3-RCC1 readthrough transcript 12477932,3678831 751867 NM_001048197,NM_001048199,NM_001048198,AL513497,BU501614,BF590413,BF667678,BU622451,BX109495,CB985055,NR_030725,NR_030726 NP_001041662,NP_001041664,NP_001041663 Hs.469723,Hs.723831 OTTHUMP00000003775|OTTHUMP00000211004|OTTHUMP00000211006|OTTHUMP00000211007|OTTHUMP00000211009|regulator of chromosome condensation 1 protein-coding 1603325 SNHG4 small nucleolar RNA host gene 4 (non-protein coding) 19240791,16344560,15146197,9630250,8657112 724102 NR_003141,AC011404,AJ224167,AJ224168,AJ224170,CN337312,DB192707,DA203569,NR_036536 Hs.268939 NCRNA00059|U19H miscrna 1349550 SNHG5 small nucleolar RNA host gene 5 (non-protein coding) This gene is a member of both the non-protein-coding multiple snoRNA host gene family and the 5'-terminal oligopyrimidine (5' TOP) class of genes. Two snoRNAs are derived from the introns of this host gene but, although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. The gene is located at the chromosomal translocation breakpoint involved in B-cell lymphoma. [provided by RefSeq] 12477932,10792466 387066 NR_003038,AB017710,AL355615,BC009220,BC108291,CD384894,CD388674,CR592254,CR615826,CR617391 Hs.292457 C6orf160|MGC16362|NCRNA00044|U50HG|bA33E24.2 miscrna 1602236 SNHG6 small nucleolar RNA host gene 6 (non-protein coding) 16226852 641638 NR_002599,AC011031,AY264285 Hs.372680 HBII-276HG|NCRNA00058|U87HG miscrna 1602847 SNHG7 small nucleolar RNA host gene 7 (non-protein coding) 14702039,12477932 84973 NR_003672,NR_024542,NR_024543,AL355987,AK090585,BC007651,BC042369,BC042667,BC055011,BC059956,BC061888,CR599965 Hs.495480 MGC16037|NCRNA00061 miscrna 1625827 SNHG8 small nucleolar RNA host gene 8 (non-protein coding) 15199136,12477932,16341674,8889548 100093630 NR_003584,BC017993,BC039555,CR625561,BM845860,CD520851,CF124302,NR_034010,NR_034011,AC096762 Hs.535762 NCRNA00060 miscrna 1604665 SNHG9 small nucleolar RNA host gene 9 (non-protein coding) 735301 NR_003142,AC005363,CR749453 Hs.115329 DKFZp686N06141|NCRNA00062 miscrna 1606779 SNIP SNAP25-interacting protein 14657239,18475297,17525734,15822905,15489334,14702039,12477932,11214970,10625663,19146815,20453886 80725 NM_025248,AC006449,AC115090,AC129916,CH471152,AB051471,AB127405,AK096097,AK126665,AK126676,AK295027,BC019717,BC029278,BC033233,BX648057 NP_079524,EAW60518,BAB21775,BAD03968,BAC86634,BAG54357,BAG58083,AAH33233,Q9C0H9,AAI56057,AAI72455 Hs.448872 KIAA1684|P140|SNIP P130Cas-associated protein|SNAP-25-interacting protein|SNAP25-interacting protein|SRC kinase signaling inhibitor 1|p140Cap protein-coding 1605941 SNIP1 Smad nuclear interacting protein 1 18632581,18794151,15489334,15378006,15231748,14702039,12477932,12097147,11567019,10887155,17207965,17157259,17081983,16189514,15750622 79753 AK293229,AK297176,NM_024700,AL034379,CH471059,AK022615,AK027622,AK300796,AK315574,AY081909,BC027040 BAG56768,BAG59668,ADQ31741,NP_078976,CAI20552,EAX07338,BAB14134,BAB55241,BAG62455,BAG37948,AAL91140,AAH27040,Q8TAD8 Hs.471951 FLJ12553|RP3-423B22.3|dJ423B22.2 FHA domain-containing protein SNIP1|Smad nuclear interacting protein (SNIP1)|smad nuclear-interacting protein 1 protein-coding 736222 SNN stannin 1580863 9657854,16381901,15489336,15489334,15345747,12477932,11230166,11076863,10233894,9413842,1635553,19305408 8303 NM_003498,AC007613,AY325800,CH471112,AF030196,AF070673,AK025795,AL161976,BC005837,BC036100,BC036443,CR542127,CR542138,CR984360,AL538273,BQ019000 NP_003489,AAP78484,EAW85146,EAW85147,AAC28427,AAC83231,CAB82314,AAH36100,AAH36443,CAG46924,CAG46935,O75324,CAL37610,ABM81710,ABM84866 Hs.727406,Hs.618526 AG8_1|stannin protein-coding 1602758 SNORA1 small nucleolar RNA, H/ACA box 1 16381836,15199136 677792 NR_003026,AP001273,AJ609425 Hs.689724 ACA1 snorna 1602252 SNORA10 small nucleolar RNA, H/ACA box 10 16381836,15199136 574042 NR_002327,AC005363,AJ609432 Hs.679928 ACA10 snorna 1602751 SNORA11 small nucleolar RNA, H/ACA box 11 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266 677799 NR_002953,AM055729 Hs.679783 SNORA11A|U107 snorna 1642098 SNORA11B small nucleolar RNA, H/ACA box 11B (retrotransposed) 16990247 100124539 NR_003709,AL121784 Hs.693444 snorna 1642097 SNORA11C small nucleolar RNA, H/ACA box 11C (retrotransposed) 16990247 100124540 NR_003710,AL591503 Hs.693443 snorna 1642096 SNORA11D small nucleolar RNA, H/ACA box 11D 16990247 100124541 NR_003711,AL928717 Hs.709779 FLJ39060 snorna 1642113 SNORA11E small nucleolar RNA, H/ACA box 11E 16990247 100124542 NR_003712,BX537154 Hs.522650 snorna 1602596 SNORA12 small nucleolar RNA, H/ACA box 12 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266 677800 AL138921,AM055730,NR_002954 Hs.662165 U108 snorna 1602777 SNORA13 small nucleolar RNA, H/ACA box 13 16381836,15199136,3342024 654322 NR_002922,AC010261,AJ609455 Hs.689709 ACA13 snorna 1602595 SNORA14A small nucleolar RNA, H/ACA box 14A Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 1. [provided by RefSeq] 16381836,15199136 677801 NR_002955,AC005067,AJ609456 Hs.689708 ACA14a snorna 1602594 SNORA14B small nucleolar RNA, H/ACA box 14B Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 7. [provided by RefSeq] 16381836,15199136 677802 NR_002956,AL732292,AJ609457 Hs.533192 ACA14b snorna 1602593 SNORA15 small nucleolar RNA, H/ACA box 15 16381836,15199136 677803 NR_002957,AC092101,AJ609458 Hs.689706 ACA15 snorna 1602745 SNORA16A small nucleolar RNA, H/ACA box 16A 16381836,15199136 692073 NR_003035,AL513497,AJ609433 Hs.719015 ACA16 snorna 1602536 SNORA16B small nucleolar RNA, H/ACA box 16B 16381836,14602913 692157 AL360091,NR_004389,AY349599 Hs.707958 U98b snorna 1602592 SNORA17 small nucleolar RNA, H/ACA box 17 16381836,15199136 677804 NR_002958,AL355987,AJ609434 Hs.722647 ACA17 snorna 1602591 SNORA18 small nucleolar RNA, H/ACA box 18 16381836,15199136 677805 NR_002959,AP001273,AJ609471 Hs.355750 ACA18 snorna 1602603 SNORA19 small nucleolar RNA, H/ACA box 19 16381836,15199136,9047361 641451 NR_002917,AL355598,AJ609435 Hs.688653 ACA19 snorna 1602590 SNORA20 small nucleolar RNA, H/ACA box 20 16381836,15199136 677806 NR_002960,AL135914,AJ609459 Hs.689705 ACA20 snorna 1602246 SNORA21 small nucleolar RNA, H/ACA box 21 16381836,15199136,14702039,9047361 619505 NR_002576,AC110749,AK095288,AJ609436 Hs.719782 ACA21 snorna 1602589 SNORA22 small nucleolar RNA, H/ACA box 22 16381836,15199136 677807 NR_002961,AC073107,AJ609437 Hs.675336 ACA22 snorna 1602588 SNORA23 small nucleolar RNA, H/ACA box 23 16381836,15199136 677808 NR_002962,AC132192,AJ609438 Hs.689720 ACA23 snorna 1602587 SNORA24 small nucleolar RNA, H/ACA box 24 16381836,15199136 677809 NR_002963,AC096762,AJ609460 Hs.535762 ACA24 snorna 1601779 SNORA25 small nucleolar RNA, H/ACA box 25 16381836,15199136 684959 NR_003028,AP001273,AJ609461 Hs.728051 ACA25 snorna 1602586 SNORA26 small nucleolar RNA, H/ACA box 26 16381836,11387227 677810 NR_003016,AC104066 Hs.635034 HBI-6 snorna 1602377 SNORA27 small nucleolar RNA, H/ACA box 27 16381836,15199136,9047361 619499 NR_002575,AB061826,AL159977,AJ609439 Hs.689719 ACA27 snorna 1602585 SNORA28 small nucleolar RNA, H/ACA box 28 16381836,15199136 677811 NR_002964,AL138976,AJ609462 Hs.658237 ACA28 snorna 1602584 SNORA29 small nucleolar RNA, H/ACA box 29 16381836,15199136 677812 NR_002965,AL135914,AJ609472 Hs.728049 ACA29 snorna 1602757 SNORA2A small nucleolar RNA, H/ACA box 2A 16381836,15199136 677793 NR_002950,AC079951,AJ609426 Hs.689723 ACA2A snorna 1602756 SNORA2B small nucleolar RNA, H/ACA box 2B 16381836,15199136 677794 NR_002951,AC079951,AJ609427 Hs.683444 ACA2b snorna 1602245 SNORA3 small nucleolar RNA, H/ACA box 3 16381836,15199136,9047361 619562 NR_002580,AC091053,AJ609428 Hs.523463 ACA3 snorna 1602583 SNORA30 small nucleolar RNA, H/ACA box 30 16381836,15199136 677813 NR_002966,AC106886,AJ609440 Hs.689718 ACA30 snorna 1602582 SNORA31 small nucleolar RNA, H/ACA box 31 16381836,15199136 677814 NR_002967,AL138963,AJ609441 Hs.728054 ACA31 snorna 1602747 SNORA32 small nucleolar RNA, H/ACA box 32 16381836,15199136 692063 NR_003032,AP001273,AJ609442 Hs.728053 ACA32 snorna 1602249 SNORA33 small nucleolar RNA, H/ACA box 33 16381836,15199136,14702039 594839 NR_002436,AL137783,AK096147,AJ609473 Hs.671378 ACA33 snorna 1602581 SNORA34 small nucleolar RNA, H/ACA box 34 16381836,15199136 677815 NR_002968,AC079951,AJ609443 Hs.689717 ACA34 snorna 1602580 SNORA35 small nucleolar RNA, H/ACA box 35 16381836,15199136 677816 NR_002993,AC007025 Hs.693123 HBI-36 snorna 1602579 SNORA36A small nucleolar RNA, H/ACA box 36A Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq] 16381836,15199136 677817 NR_002969,AC109993,AJ609463 Hs.689704 ACA36 snorna 1602578 SNORA36B small nucleolar RNA, H/ACA box 36B 16381836,15199136 677818 NR_002994,AL445435 Hs.690442 ACA36b snorna 1642102 SNORA36C small nucleolar RNA, H/ACA box 36C (retrotransposed) 16990247 100124535 NR_003705,AC079121 Hs.693447 snorna 1602577 SNORA37 small nucleolar RNA, H/ACA box 37 16381836,15199136 677819 NR_002970,AC093462,AJ609444 Hs.655869 ACA37 snorna 1602576 SNORA38 small nucleolar RNA, H/ACA box 38 16381836,15199136 677820 NR_002971,AL662801,AL662847,AL805934,AJ609474,BX511262,CR354443,CR753892,CR759761 Hs.689700 ACA38 snorna 1642101 SNORA38B small nucleolar RNA, H/ACA box 38B (retrotransposed) 16990247 100124536 NR_003706,AC006534 Hs.693446 snorna 1602575 SNORA39 small nucleolar RNA, H/ACA box 39 16381836,15199136 677821 NR_002972,AL049868,AJ609475 Hs.725851 ACA39 snorna 1602240 SNORA4 small nucleolar RNA, H/ACA box 4 16381836,15199136 619568 NR_002588,AC112907,AJ609452 Hs.518475 ACA4 snorna 1602574 SNORA40 small nucleolar RNA, H/ACA box 40 16381836,15199136 677822 NR_002973,AP001273,AJ609445 Hs.355750 ACA40 snorna 1602239 SNORA41 small nucleolar RNA, H/ACA box 41 16381836,15199136,3342024 619569 NR_002590,AC007383,AJ609464 Hs.421608 ACA41 snorna 1602573 SNORA42 small nucleolar RNA, H/ACA box 42 16381836,15199136 677823 NR_002974,AL355388,AJ609465 Hs.676501 ACA42 snorna 1605446 SNORA43 small nucleolar RNA, H/ACA box 43 16381836,15199136,14702039 677824 NR_002975,AL355987,AK054908,BC105975,CR599011,CR603416,CR611143,CR614579,CR616236,CR617249,CR625351,CR625763,AJ609446 Hs.495480,Hs.722646 ACA43 snorna 1602572 SNORA44 small nucleolar RNA, H/ACA box 44 16381836,15199136 677825 NR_002976,AL513497,AJ609466 Hs.728050 ACA44 snorna 1602571 SNORA45 small nucleolar RNA, H/ACA box 45 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266 677826 NR_002977,AC091053,AM055744 Hs.523463 ACA3-2 snorna 1602570 SNORA46 small nucleolar RNA, H/ACA box 46 16381836,15199136 677827 NR_002978,AC009118,AC010287,AJ609467 Hs.688592 ACA46 snorna 1602569 SNORA47 small nucleolar RNA, H/ACA box 47 16381836,11387227 677828 NR_003014,AC008581 Hs.693249 HBI-115 snorna 1602941 SNORA48 small nucleolar RNA, H/ACA box 48 16381836,15199136,9047361 652965 NR_002918,AC016876,AJ609447 Hs.129673 ACA48 snorna 1602568 SNORA49 small nucleolar RNA, H/ACA box 49 16381836,15199136 677829 AJ609476,NR_002979,AC137590 Hs.689699 ACA49 snorna 1602567 SNORA50 small nucleolar RNA, H/ACA box 50 16381836,15199136 677830 NR_002980,AC010287,AJ609468 Hs.677515 ACA50 snorna 1602566 SNORA51 small nucleolar RNA, H/ACA box 51 16381836,15199136 677831 NR_002981,AL049712,AJ609477 Hs.689698 ACA51 snorna 1602242 SNORA52 small nucleolar RNA, H/ACA box 52 16381836,15199136,9047361 619565 NR_002585,AP006621,AJ609448 Hs.689713 ACA52 snorna 1602565 SNORA53 small nucleolar RNA, H/ACA box 53 16381836,15199136 677832 NR_003015,AC013283 Hs.693250 ACA53 snorna 1602564 SNORA54 small nucleolar RNA, H/ACA box 54 16381836,15199136,20201924 677833 NR_002982,AC131971,AJ609479 Hs.689696 ACA54 snorna 1602563 SNORA55 small nucleolar RNA, H/ACA box 55 16381836,15199136 677834 NR_002983,AL365277,AJ609480 Hs.676660 ACA55 snorna 1602562 SNORA56 small nucleolar RNA, H/ACA box 56 Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residue U1664 of 28S rRNA. [provided by RefSeq] 16381836,15199136 677835 NR_002984,AC109993,AJ609449 Hs.660810 ACA56 snorna 1602535 SNORA57 small nucleolar RNA, H/ACA box 57 16381836,15199136,14602913 692158 NR_004390,AY349600,AP001458 Hs.721223 U99 snorna 1602561 SNORA58 small nucleolar RNA, H/ACA box 58 16381836,15199136 677836 NR_002985,AC107027,AJ609450 Hs.673861 ACA58 snorna 1602545 SNORA59A small nucleolar RNA, H/ACA box 59A 16381836,15199136,15252450 677885 NR_003025,AL031296,AJ609481,DQ786227 Hs.721005 ACA59 snorna 1602546 SNORA59B small nucleolar RNA, H/ACA box 59B 16381836,15199136 677882 DQ786227,NR_003022,AC025627 Hs.721005,Hs.658450 ACA59 snorna 1602780 SNORA5A small nucleolar RNA, H/ACA box 5A 16381836,15199136 654319 NR_002919,AC013416,CH236960,AJ609453 Hs.689711 ACA5|ACA5A/B/C snorna 1602755 SNORA5B small nucleolar RNA, H/ACA box 5B 16381836,15199136 677795 NR_002990,AC013416,CH236960 Hs.693124 ACA5b snorna 1602754 SNORA5C small nucleolar RNA, H/ACA box 5C Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA5C, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266,15199136 677796 NR_002991,AC013416,CH236960,AM055746 Hs.692718 ACA5c snorna 1602253 SNORA6 small nucleolar RNA, H/ACA box 6 16381836,15199136 574040 NR_002325,AC099332,AF375472,AJ609429 Hs.449909 ACA6 snorna 1602560 SNORA60 small nucleolar RNA, H/ACA box 60 16381836,15199136,14702039 677837 NR_002986,AL049868,AK091209,AJ609469 Hs.16936,Hs.706159 ACA60 snorna 1602559 SNORA61 small nucleolar RNA, H/ACA box 61 16381836,15199136 677838 NR_002987,AL513497,AJ609451 Hs.728052 ACA61 snorna 1350000 SNORA62 small nucleolar RNA, H/ACA box 62 16381836,8421699,8415643 6044 NR_002324,AC099332,U36484,U43901,L07383 Hs.449909 E2|E2-1|RNE2|RNU108 snorna 1348131 SNORA63 small nucleolar RNA, H/ACA box 63 9182768,9144174,9047361,8421699,8415643,8391637 6043 NR_002586,AC112907,L22740,L07384 Hs.518475 E3|E3-2|RNE3|RNU107 snorna 1342964 SNORA64 small nucleolar RNA, H/ACA box 64 16381836,15199136,9106664 26784 NR_002326,AC005363,Y11158 Hs.498569 RNU64|U64 snorna 1345878 SNORA65 small nucleolar RNA, H/ACA box 65 16381836,15199136,9106664 26783 NR_002449,AL445222,Y11159 Hs.656353 RNU65|U65 snorna 1343246 SNORA66 small nucleolar RNA, H/ACA box 66 This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq] 16381836,15199136 26782 NR_002444,AL162740,Y11160 Hs.180946 RNU66|U66 snorna 1352748 SNORA67 small nucleolar RNA, H/ACA box 67 16381836,15199136,9182768,9106664 26781 NR_002912,AC016876,Y11161 Hs.129673 RNU67|U67 snorna 1347171 SNORA68 small nucleolar RNA, H/ACA box 68 9182768,9106664 26780 NR_000012,AC005796,Y11162 Hs.684118 RNU68|U68 snorna 1344266 SNORA69 small nucleolar RNA, H/ACA box 69 16381836,15199136,9182768,9106664,3342024 26779 NR_002584,AB061835,AC005052,Y11163 Hs.675255 RNU69|U69|U69A snorna 1342682 SNORA70 small nucleolar RNA, H/ACA box 70 15199136,9106664,8733135 26778 NR_000011,BX936347,L44140,M81806,Y11164 Hs.725805 DXS648E|RNU70|U70 snorna 1642100 SNORA70B small nucleolar RNA, H/ACA box 70B (retrotransposed) 16990247 100124537 NR_003707,AC016894 Hs.675825 snorna 1642099 SNORA70C small nucleolar RNA, H/ACA box 70C (retrotransposed) 16990247,17154719,17175533 100124538 NR_003708,AL355608 Hs.693445 U70C snorna 2974666 SNORA70D small nucleolar RNA, H/ACA box 70D (retrotransposed) 100379141 AC009097,NR_033337 Hs.725116 U70D snorna 2946884 SNORA70E small nucleolar RNA, H/ACA box 70E (retrotransposed) 100379250 AP001767,NR_033347 Hs.725115 U70E snorna 2881126 SNORA70F small nucleolar RNA, H/ACA box 70F (retrotransposed) 100337591 AC019181,NR_033309 Hs.664357 U70F snorna 2974667 SNORA70G small nucleolar RNA, H/ACA box 70G (retrotransposed) 100379132 AC015550,NR_033335 Hs.724530 U70G snorna 1351285 SNORA71A small nucleolar RNA, H/ACA box 71A 15199136,9106664 26777 NR_002911,AL080249,Y11165 Hs.681779 RNU71A|U71a snorna 1349458 SNORA71B small nucleolar RNA, H/ACA box 71B 15199136,9106664 26776 NR_002910,AL080249,Y11166 Hs.728019 RNU71B|U71b rna, u71b small nucleolar snorna 1602558 SNORA71C small nucleolar RNA, H/ACA box 71C 16381836,15199136 677839 NR_003017,AL080249 Hs.711516 U71c snorna 1602557 SNORA71D small nucleolar RNA, H/ACA box 71D 16381836,15199136 677840 NR_003018,AL080249 Hs.653086 U71d snorna 1349239 SNORA72 small nucleolar RNA, H/ACA box 72 9182768,9106664,9047361 26775 NR_002581,AB070559,AP003352,Y11167 Hs.684855 RNU72|U72 snorna 1354060 SNORA73A small nucleolar RNA, H/ACA box 73A 8421699,8391637,8335005 6080 NR_002907,AL513497,L16791,CX783521,L07382,S63405 E1|E1-7|E1b|RNE1|RNU17A|U17A snorna 1345459 SNORA73B small nucleolar RNA, H/ACA box 73B 8335005 6081 NR_004406,L16792,AL513497 RNU17B|U17B snorna 1345962 SNORA74A small nucleolar RNA, H/ACA box 74A 9630250,8657112,19240791 26821 NR_002915,AC011404,X94290 Hs.684893 RNU19|U19 snorna 1602556 SNORA74B small nucleolar RNA, H/ACA box 74B Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266,15199136 677841 NR_002988,AC008429,AM055743 Hs.692720 U19-2 snorna 1602778 SNORA75 small nucleolar RNA, H/ACA box 75 16381836,15199136,9182768 654321 NR_002921,AC017104,AJ007015 Hs.674388 U23 snorna 1602555 SNORA76 small nucleolar RNA, H/ACA box 76 16381836,15199136 677842 NR_002995,AC025362 Hs.405444 ACA62 snorna 1602554 SNORA77 small nucleolar RNA, H/ACA box 77 16381836,15199136 677843 NR_003019,AC114402 Hs.676135 ACA63 snorna 1602553 SNORA78 small nucleolar RNA, H/ACA box 78 16381836,15199136 677844 NR_003020,AC005363,AC005606 Hs.707294 ACA64 snorna 1602552 SNORA79 small nucleolar RNA, H/ACA box 79 16381836,15199136 677845 NR_003021,AC010582,AL136040 Hs.693251 ACA65 snorna 1602244 SNORA7A small nucleolar RNA, H/ACA box 7A 16381836,15199136,9047361 619563 NR_002582,AJ609430,AC034198 Hs.265174 ACA7 snorna 1602753 SNORA7B small nucleolar RNA, H/ACA box 7B 16381836,15199136 677797 NR_002992,AL449212 Hs.711399 ACA7B snorna 1602779 SNORA8 small nucleolar RNA, H/ACA box 8 16381836,15199136,3342024 654320 NR_002920,AP001273,AJ609454 Hs.355750 ACA8 snorna 1602551 SNORA80 small nucleolar RNA, H/ACA box 80 16381836,15199136 677846 NR_002996,AP000268 Hs.712293 ACA67 snorna 2312689 SNORA80B small nucleolar RNA, H/ACA box 80B 100302743 NR_028374,AC007249 Hs.674398 ACA67B snorna 1602550 SNORA81 small nucleolar RNA, H/ACA box 81 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266,15199136 677847 NR_002989,AC112907,AM055745 Hs.688848 HBI-61 snorna 1642103 SNORA84 small nucleolar RNA, H/ACA box 84 16990247 100124534 NR_003704,AL136097 Hs.693449 snorna 1602752 SNORA9 small nucleolar RNA, H/ACA box 9 16381836,15199136 677798 NR_002952,AC004847,CH236960,AJ609431 Hs.25892 ACA9 snorna 1602940 SNORD10 small nucleolar RNA, C/D box 10 9844635 652966 NR_002604,AC016876 Hs.129673 mgU6-77 snorna 1602250 SNORD100 small nucleolar RNA, C/D box 100 11387227 594838 NR_002435,AB061840,AL137783 HBII-429 snorna 1602251 SNORD101 small nucleolar RNA, C/D box 101 14602913 594837 NR_002434,AL137783,AY349602 U101 snorna 1602329 SNORD102 small nucleolar RNA, C/D box 102 14602913 26771 NR_002574,AB061826,AL159977,AY349603 RNU102|Z18 snorna 1602349 SNORD103A small nucleolar RNA, C/D box 103A 14602913 692234 AL445235,NR_004054,AY349604 U103 snorna 2947026 SNORD103B small nucleolar RNA, C/D box 103B 14602913 692235 AL445235,NR_033295 U103B snorna 1602352 SNORD104 small nucleolar RNA, C/D box 104 14602913 692227 AC025362,NR_004380,AY349605 U104 snorna 1602351 SNORD105 small nucleolar RNA, C/D box 105 14602913 692229 AC020931,NR_004381,AY349606 U105 snorna 1626531 SNORD105B small nucleolar RNA, C/D box 105B 16990247 100113382 NR_003688,AC020931 snorna 1606194 SNORD107 small nucleolar RNA, C/D box 107 11726556 91380 AY055806,NR_001293,NG_002690,AC124312 HBII-436 snorna 1605817 SNORD108 small nucleolar RNA, C/D box 108 11726556 338427 NR_001292,NG_002690,AC124312,AY055807 HBII-437 snorna 1605816 SNORD109A small nucleolar RNA, C/D box 109A 11726556 338428 NR_001295,NG_002690,AC124312,AY055808 HBII-438A snorna 1605815 SNORD109B small nucleolar RNA, C/D box 109B 11726556 338429 NR_001289,NG_002690,AC100774 HBII-438B snorna 1602748 SNORD11 small nucleolar RNA, C/D box 11 11387227 692058 NR_003031,AC064836 HBII-95 snorna 1602359 SNORD110 small nucleolar RNA, C/D box 110 11387227 692213 NR_003078,AL049712 HBII-55 snorna 1602358 SNORD111 small nucleolar RNA, C/D box 111 11387227 692214 NR_003079,AC106804 HBII-82 snorna 1626520 SNORD111B small nucleolar RNA, C/D box 111B 16990247 100113402 NR_003696,AC106804 snorna 1602357 SNORD112 small nucleolar RNA, C/D box 112 12045206 692215 NR_003080,AL117190 14q(0) snorna 1602532 SNORD113-1 small nucleolar RNA, C/D box 113-1 12045206 767561 NR_003229,AL117190 14q(I-1) snorna 1602531 SNORD113-2 small nucleolar RNA, C/D box 113-2 12045206 767562 NR_003230,AL132709 14q(I-2) snorna 1602530 SNORD113-3 small nucleolar RNA, C/D box 113-3 12045206 767563 NR_003231,AL132709 14q(I-3) snorna 1602529 SNORD113-4 small nucleolar RNA, C/D box 113-4 12045206 767564 NR_003232,AL132709 14q(I-4) snorna 1602528 SNORD113-5 small nucleolar RNA, C/D box 113-5 12045206 767565 NR_003233,AL132709 14q(I-5) snorna 1602527 SNORD113-6 small nucleolar RNA, C/D box 113-6 12045206 767566 NR_003234,AL132709 14q(I-6) snorna 1602526 SNORD113-7 small nucleolar RNA, C/D box 113-7 12045206 767567 NR_003235,AL132709 14q(I-7) snorna 1602525 SNORD113-8 small nucleolar RNA, C/D box 113-8 12045206 767568 NR_003236,AL132709 14q(I-8) snorna 1602524 SNORD113-9 small nucleolar RNA, C/D box 113-9 12045206 767569 NR_003237,AL132709 14q(I-9) snorna 1602523 SNORD114-1 small nucleolar RNA, C/D box 114-1 12045206 767577 NR_003193,AL132709 14q(II-1) snorna 1602514 SNORD114-10 small nucleolar RNA, C/D box 114-10 12045206 767588 NR_003203,AL132709 14q(II-10) snorna 1602513 SNORD114-11 small nucleolar RNA, C/D box 114-11 12045206 767589 NR_003204,AL132709 14q(II-11) snorna 1602512 SNORD114-12 small nucleolar RNA, C/D box 114-12 12045206 767590 NR_003205,AL132709 14q(II-12) snorna 1602511 SNORD114-13 small nucleolar RNA, C/D box 114-13 12045206 767591 NR_003206,AL132709 14q(II-13) snorna 1602510 SNORD114-14 small nucleolar RNA, C/D box 114-14 12045206 767592 NR_003207,AL132709 14q(II-14) snorna 1602509 SNORD114-15 small nucleolar RNA, C/D box 114-15 12045206 767593 NR_003208,AL132709 14q(II-15) snorna 1602508 SNORD114-16 small nucleolar RNA, C/D box 114-16 12045206 767594 NR_003209,AL132709 14q(II-16) snorna 1602507 SNORD114-17 small nucleolar RNA, C/D box 114-17 12045206 767595 NR_003210,AL132709 14q(II-17) snorna 1602506 SNORD114-18 small nucleolar RNA, C/D box 114-18 12045206 767596 NR_003211,AL132709 14q(II-18) snorna 1602505 SNORD114-19 small nucleolar RNA, C/D box 114-19 12045206 767597 NR_003212,AL132709 14q(II-19) snorna 1602522 SNORD114-2 small nucleolar RNA, C/D box 114-2 12045206 767578 NR_003194,AL132709 14q(II-2) snorna 1602504 SNORD114-20 small nucleolar RNA, C/D box 114-20 12045206 767598 NR_003213,AL132709 14q(II-20) snorna 1602503 SNORD114-21 small nucleolar RNA, C/D box 114-21 12045206 767599 NR_003214,AL132709 14q(II-21) snorna 1602348 SNORD114-22 small nucleolar RNA, C/D box 114-22 12045206 767600 NR_003215,AL132709 14q(II-22) snorna 1602347 SNORD114-23 small nucleolar RNA, C/D box 114-23 12045206 767603 NR_003216,AL132709 14q(II-23) snorna 1602346 SNORD114-24 small nucleolar RNA, C/D box 114-24 12045206 767604 NR_003217,AL132709 14q(II-24) snorna 1602345 SNORD114-25 small nucleolar RNA, C/D box 114-25 12045206 767605 NR_003218,AL132709 14q(II-25) snorna 1602344 SNORD114-26 small nucleolar RNA, C/D box 114-26 12045206 767606 NR_003219,AL132709 14q(II-26) snorna 1602343 SNORD114-27 small nucleolar RNA, C/D box 114-27 12045206 767608 NR_003220,AL132709 14q(II-27) snorna 1602342 SNORD114-28 small nucleolar RNA, C/D box 114-28 12045206 767609 NR_003221,AL132709 14q(II-28) snorna 1602341 SNORD114-29 small nucleolar RNA, C/D box 114-29 12045206 767610 NR_003222,AL132709 14q(II-29) snorna 1602521 SNORD114-3 small nucleolar RNA, C/D box 114-3 14702039,12045206 767579 NR_003195,AL132709,AK001109 Hs.613596 14q(II-3) snorna 1602340 SNORD114-30 small nucleolar RNA, C/D box 114-30 12045206 767611 NR_003223,AL132709 14q(II-30) snorna 1602339 SNORD114-31 small nucleolar RNA, C/D box 114-31 12045206 767612 NR_003224,AL132709 14q(II-31) snorna 1602520 SNORD114-4 small nucleolar RNA, C/D box 114-4 12045206 767580 NR_003196,AL132709 Hs.651071 14q(II-4) snorna 1602519 SNORD114-5 small nucleolar RNA, C/D box 114-5 12045206 767581 NR_003197,AL132709 14q(II-5) snorna 1602518 SNORD114-6 small nucleolar RNA, C/D box 114-6 12045206 767582 NR_003198,AL132709 14q(II-6) snorna 1602517 SNORD114-7 small nucleolar RNA, C/D box 114-7 12045206 767583 NR_003199,AL132709 14q(II-7) snorna 1602516 SNORD114-8 small nucleolar RNA, C/D box 114-8 12045206 767584 NR_003200,AL132709 14q(II-8) snorna 1602515 SNORD114-9 small nucleolar RNA, C/D box 114-9 12045206 767585 NR_003201,AL132709 14q(II-9) snorna 1605814 SNORD115-1 small nucleolar RNA, C/D box 115-1 This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq] 18616950,16357227,15939761,15565282,12045206,11726556,11106375 338433 NR_001291,NG_002690,AC124303,AF250841 HBII-52-1|RNHBII52 snorna 1604083 SNORD115-10 small nucleolar RNA, C/D box 115-10 16357227,15939761,15565282,12045206,11726556,11106375 100033447 NR_003302,NG_002690,AC124303,AF250841 HBII-52-10 snorna 1604082 SNORD115-11 small nucleolar RNA, C/D box 115-11 16357227,15939761,15565282,12045206,11726556,11106375 100033448 NR_003303,NG_002690,AC124303,AF250841 HBII-52-11 snorna 1604081 SNORD115-12 small nucleolar RNA, C/D box 115-12 16357227,15939761,15565282,12045206,11726556,11106375 100033449 NR_003304,NG_002690,AC124303,AF250841 HBII-52-12 snorna 1604080 SNORD115-13 small nucleolar RNA, C/D box 115-13 16357227,15939761,15565282,12045206,11726556,11106375 100033450 NR_003305,NG_002690,AC124303,AF250841 HBII-52-13 snorna 1604079 SNORD115-14 small nucleolar RNA, C/D box 115-14 16357227,15939761,15565282,12045206,11726556,11106375 100033451 NR_003306,NG_002690,AC124303,AF250841 HBII-52-14 snorna 1604078 SNORD115-15 small nucleolar RNA, C/D box 115-15 16357227,15939761,15565282,12045206,11726556,11106375 100033453 NR_003307,NG_002690,AC124303,AF250841 HBII-52-15 snorna 1604077 SNORD115-16 small nucleolar RNA, C/D box 115-16 16357227,15939761,15565282,12045206,11726556,11106375 100033454 NR_003308,NG_002690,AC124303,AF250841 HBII-52-16 snorna 1604076 SNORD115-17 small nucleolar RNA, C/D box 115-17 16357227,15939761,15565282,12045206,11726556,11106375 100033455 NR_003309,NG_002690,AC124303,AF250841 HBII-52-17 snorna 1604075 SNORD115-18 small nucleolar RNA, C/D box 115-18 16357227,15939761,15565282,12045206,11726556,11106375 100033456 NR_003310,NG_002690,AC124303,AF250841 HBII-52-18 snorna 1604074 SNORD115-19 small nucleolar RNA, C/D box 115-19 16357227,15939761,15565282,12045206,11726556,11106375 100033458 NR_003311,NG_002690,AC124303,AF250841 HBII-52-19 snorna 1604093 SNORD115-2 small nucleolar RNA, C/D box 115-2 16357227,15939761,15565282,12045206,11726556,11106375 100033437 NR_003294,NG_002690,AC124303,AF250841 HBII-52-2 snorna 1604073 SNORD115-20 small nucleolar RNA, C/D box 115-20 16357227,15939761,15565282,12045206,11726556,11106375 100033460 NR_003312,NG_002690,AC124303,AF250841 HBII-52-20 snorna 1603413 SNORD115-21 small nucleolar RNA, C/D box 115-21 16357227,15939761,15565282,12045206,11726556,11106375 100033603 NR_003313,NG_002690,AC124303,AF250841 HBII-52-21 snorna 1606846 SNORD115-22 small nucleolar RNA, C/D box 115-22 16357227,15939761,15565282,12045206,11726556,11106375 100033799 NR_003314,NG_002690,AC124303,AF250841 HBII-52-22 snorna 1606613 SNORD115-23 small nucleolar RNA, C/D box 115-23 16357227,15939761,15565282,12045206,11726556,11106375 100033800 NR_003315,NG_002690,AC124303,AF250841 HBII-52-23 snorna 4144953 SNORD115-24 small nucleolar RNA, C/D box 115-24 11106375,11726556 100036563 AC124303,NG_002690,NR_003495 HBII-52-24 snorna 1606612 SNORD115-25 small nucleolar RNA, C/D box 115-25 16357227,15939761,15565282,12045206,11726556,11106375 100033801 NR_003342,NG_002690,AC124303,AF250841 HBII-52-25 snorna 1606611 SNORD115-26 small nucleolar RNA, C/D box 115-26 16357227,15939761,15565282,12045206,11726556,11106375 100033802 NR_003343,NG_002690,AC124303,AF250841 HBII-52-26 snorna 1606610 SNORD115-29 small nucleolar RNA, C/D box 115-29 16357227,15939761,15565282,12045206,11726556,11106375 100033803 AC124303,AF250841,NR_003344,NG_002690 HBII-52-29 snorna 1604090 SNORD115-3 small nucleolar RNA, C/D box 115-3 16357227,15939761,15565282,12045206,11726556,11106375 100033440 NR_003295,NG_002690,AC124303,AF250841 HBII-52-3 snorna 1606609 SNORD115-30 small nucleolar RNA, C/D box 115-30 16357227,15939761,15565282,12045206,11726556,11106375 100033804 NR_003345,NG_002690,AC124303,AF250841 HBII-52-30 snorna 1606608 SNORD115-31 small nucleolar RNA, C/D box 115-31 16357227,15939761,15565282,12045206,11726556,11106375 100033805 AF250841,NR_003346,NG_002690,AC124303 HBII-52-31 snorna 1606607 SNORD115-32 small nucleolar RNA, C/D box 115-32 16357227,15565282,12045206,11726556,11106375,15939761 100033806 NR_003347,NG_002690,AC124303,AF250841 HBII-52-32 snorna 1606606 SNORD115-33 small nucleolar RNA, C/D box 115-33 16357227,15939761,15565282,12045206,11726556,11106375 100033807 NR_003348,NG_002690,AC124303,AF250841 HBII-52-33 snorna 1606605 SNORD115-34 small nucleolar RNA, C/D box 115-34 16357227,15939761,15565282,12045206,11726556,11106375 100033808 NR_003349,NG_002690,AC124303,AF250841 HBII-52-34 snorna 1606604 SNORD115-35 small nucleolar RNA, C/D box 115-35 16357227,15939761,15565282,12045206,11726556,11106375 100033809 NR_003350,NG_002690,AC124303,AF250841 HBII-52-35 snorna 1606603 SNORD115-36 small nucleolar RNA, C/D box 115-36 16357227,15939761,15565282,12045206,11726556,11106375 100033810 NR_003351,NG_002690,AC124303,AF250841 HBII-52-36 snorna 1606602 SNORD115-37 small nucleolar RNA, C/D box 115-37 16357227,15939761,15565282,12045206,11726556,11106375 100033811 NR_003352,NG_002690,AC124303,AF250841 HBII-52-37 snorna 1606601 SNORD115-38 small nucleolar RNA, C/D box 115-38 15939761,15565282,12045206,11726556,11106375,16357227 100033812 NR_003353,NG_002690,AC124303,AF250841 HBII-52-38 snorna 1606600 SNORD115-39 small nucleolar RNA, C/D box 115-39 16357227,15939761,15565282,12045206,11726556,11106375 100033813 NR_003354,NG_002690,AC124303,AF250841 HBII-52-39 snorna 1604089 SNORD115-4 small nucleolar RNA, C/D box 115-4 16357227,15939761,15565282,12045206,11726556,11106375 100033441 NR_003296,NG_002690,AC124303,AF250841 HBII-52-4 snorna 1606599 SNORD115-40 small nucleolar RNA, C/D box 115-40 16357227,15939761,15565282,12045206,11726556,11106375 100033814 NR_003355,NG_002690,AC124303,AF250841 HBII-52-40 snorna 1606598 SNORD115-41 small nucleolar RNA, C/D box 115-41 16357227,15939761,15565282,12045206,11726556,11106375 100033815 NR_003356,NG_002690,AC124303,AF250841 HBII-52-41 snorna 1606597 SNORD115-42 small nucleolar RNA, C/D box 115-42 16357227,15939761,15565282,12045206,11726556,11106375 100033816 NR_003357,NG_002690,AC124303,AF250841 HBII-52-42 snorna 1606596 SNORD115-43 small nucleolar RNA, C/D box 115-43 16357227,15939761,15565282,12045206,11726556,11106375 100033817 NG_002690,AC124303,AF250841,NR_003358 HBII-52-43 snorna 1606595 SNORD115-44 small nucleolar RNA, C/D box 115-44 16357227,15939761,15565282,12045206,11726556,11106375 100033818 NR_003359,NG_002690,AC124303,AF250841 HBII-52-44 snorna 1606592 SNORD115-48 small nucleolar RNA, C/D box 115-48 16357227,15939761,15565282,12045206,11726556,11106375 100033822 NR_003362,NG_002690,AC100774,AF250841 HBII-52-48 snorna 1604088 SNORD115-5 small nucleolar RNA, C/D box 115-5 16357227,15939761,15565282,12045206,11726556,11106375 100033442 NR_003297,NG_002690,AC124303,AF250841 HBII-52-5 snorna 1604087 SNORD115-6 small nucleolar RNA, C/D box 115-6 16357227,15939761,15565282,12045206,11726556,11106375 100033443 NR_003298,NG_002690,AC124303,AF250841 HBII-52-6 snorna 1604086 SNORD115-7 small nucleolar RNA, C/D box 115-7 16357227,15939761,15565282,12045206,11726556,11106375 100033444 NR_003299,NG_002690,AC124303,AF250841 HBII-52-7 snorna 1604085 SNORD115-8 small nucleolar RNA, C/D box 115-8 16357227,15939761,15565282,12045206,11726556,11106375 100033445 NR_003300,NG_002690,AC124303,AF250841 HBII-52-8 snorna 1604084 SNORD115-9 small nucleolar RNA, C/D box 115-9 16357227,15939761,15565282,12045206,11726556,11106375 100033446 NR_003301,NG_002690,AC124303,AF250841 HBII-52-9 snorna 1604117 SNORD116-1 small nucleolar RNA, C/D box 116-1 11726556,11106375 100033413 NR_003316,NG_002690,AC124312 HBII-85-1|PWCR1 snorna 1604108 SNORD116-10 small nucleolar RNA, C/D box 116-10 11726556,11106375 100033422 NR_003325,NG_002690,AC124312 HBII-85-10 snorna 1604107 SNORD116-11 small nucleolar RNA, C/D box 116-11 11726556,11106375 100033423 NR_003326,NG_002690,AC124312 HBII-85-11 snorna 1604106 SNORD116-12 small nucleolar RNA, C/D box 116-12 11726556,11106375 100033424 NR_003327,NG_002690,AC124312 HBII-85-12 snorna 1604105 SNORD116-13 small nucleolar RNA, C/D box 116-13 11726556,11106375 100033425 NR_003328,NG_002690,AC124312 HBII-85-13 snorna 1604104 SNORD116-14 small nucleolar RNA, C/D box 116-14 11726556,11106375 100033426 NR_003329,NG_002690,AC124312 HBII-85-14 snorna 1604103 SNORD116-15 small nucleolar RNA, C/D box 116-15 11726556,11106375 100033427 NR_003330,NG_002690,AC124312 HBII-85-15 snorna 1604102 SNORD116-16 small nucleolar RNA, C/D box 116-16 11726556,11106375 100033428 NR_003331,NG_002690,AC124312 HBII-85-16 snorna 1604101 SNORD116-17 small nucleolar RNA, C/D box 116-17 11726556,11106375 100033429 NR_003332,NG_002690,AC124312 HBII-85-17 snorna 1604100 SNORD116-18 small nucleolar RNA, C/D box 116-18 11726556,11106375 100033430 NR_003333,NG_002690,AC124312 HBII-85-18 snorna 1604119 SNORD116-19 small nucleolar RNA, C/D box 116-19 11726556,11106375 727708 NR_001290,NG_002690,AC124312,AF250841 HBII-85-19 snorna 1604116 SNORD116-2 small nucleolar RNA, C/D box 116-2 11726556,11106375 100033414 NR_003317,NG_002690,AC124312 HBII-85-2 snorna 1604099 SNORD116-20 small nucleolar RNA, C/D box 116-20 11726556,11106375 100033431 NR_003334,NG_002690,AC124312 HBII-85-20 snorna 1604098 SNORD116-21 small nucleolar RNA, C/D box 116-21 11726556,11106375 100033432 NR_003335,NG_002690,AC124312 HBII-85-21 snorna 1604097 SNORD116-22 small nucleolar RNA, C/D box 116-22 11726556,11106375 100033433 NR_003336,NG_002690,AC124312 HBII-85-22 snorna 1604096 SNORD116-23 small nucleolar RNA, C/D box 116-23 11726556,11106375 100033434 NR_003337,NG_002690,AC124312 HBII-85-23 snorna 1604095 SNORD116-24 small nucleolar RNA, C/D box 116-24 11726556,11106375 100033435 NR_003338,NG_002690,AC124312 HBII-85-24 snorna 1604094 SNORD116-25 small nucleolar RNA, C/D box 116-25 11726556,11106375 100033436 AC124312,NR_003339,NG_002690 HBII-85-25 snorna 1604092 SNORD116-26 small nucleolar RNA, C/D box 116-26 11726556,11106375 100033438 NR_003340,NG_002690,AC124312 HBII-85-26 snorna 1604091 SNORD116-27 small nucleolar RNA, C/D box 116-27 11726556,11106375 100033439 NR_003341,NG_002690,AC124312,AF250841 HBII-85-27 snorna 1606594 SNORD116-28 small nucleolar RNA, C/D box 116-28 11726556,11106375 100033820 NR_003361,NG_002690,AC124312,AF250841 HBII-85-28 snorna 1606593 SNORD116-29 small nucleolar RNA, C/D box 116-29 11106375,11726556 100033821 NR_003360,NG_002690,AC124303,AF250841 HBII-85-29 snorna 1604115 SNORD116-3 small nucleolar RNA, C/D box 116-3 11726556,11106375 100033415 NR_003318,NG_002690,AC124312 HBII-85-3 snorna 1604114 SNORD116-4 small nucleolar RNA, C/D box 116-4 11726556,11106375 100033416 NR_003319,NG_002690,AC124312 HBII-85-4 snorna 1604113 SNORD116-5 small nucleolar RNA, C/D box 116-5 11726556,11106375 100033417 NR_003320,NG_002690,AC124312 HBII-85-5 snorna 1604112 SNORD116-6 small nucleolar RNA, C/D box 116-6 11726556,11106375 100033418 NR_003321,NG_002690,AC124312 HBII-85-6 snorna 1604111 SNORD116-7 small nucleolar RNA, C/D box 116-7 11726556,11106375 100033419 NR_003322,NG_002690,AC124312 HBII-85-7 snorna 1604110 SNORD116-8 small nucleolar RNA, C/D box 116-8 11726556,11106375 100033420 NR_003323,NG_002690,AC124312 HBII-85-8 snorna 1604109 SNORD116-9 small nucleolar RNA, C/D box 116-9 11726556,11106375 100033421 NR_003324,NG_002690,AC124312 HBII-85-9 snorna 1602350 SNORD117 small nucleolar RNA, C/D box 117 10684929 692233 BX248516,BX927320,CR753820,CR753864,CT009531,NR_003140,AL662801,AL662847,BX001040,AJ243200 U83 snorna 2859191 SNORD118 small nucleolar RNA, C/D box 118 2411727,2531075 727676 AC129492,NR_033294 U8 snorna 1626535 SNORD119 small nucleolar RNA, C/D box 119 16990247 100113378 NR_003684,AL049650 snorna 1626523 SNORD11B small nucleolar RNA, C/D box 11B 16990247 100113392 NR_003694,AC064836 Hs.693442 snorna 1602749 SNORD12 small nucleolar RNA, C/D box 12 11387227 692057 NR_003030,AL049766 HBII-99|MIR1259|MIRN1259 snorna 1626534 SNORD121A small nucleolar RNA, C/D box 121A 16990247 100113379 NR_003685,AL139113 snorna 1626528 SNORD121B small nucleolar RNA, C/D box 121B 16990247 100113385 NR_003690,AL139113 snorna 1626529 SNORD123 small nucleolar RNA, C/D box 123 16990247,14702039 100113384 NR_003689,AC034214,AK095831 Hs.34447 snorna 1626525 SNORD124 small nucleolar RNA, C/D box 124 16990247 100113390 NR_003692,AC102799 Hs.462983 snorna 1626533 SNORD125 small nucleolar RNA, C/D box 125 16990247 100113380 NR_003686,AC002059 snorna 1626524 SNORD126 small nucleolar RNA, C/D box 126 19272437,16990247 100113391 NR_003693,AL355075 MIR1201|MIRN1201 snorna 1626526 SNORD127 small nucleolar RNA, C/D box 127 16990247 100113389 NR_003691,AL121809 Hs.712501 snorna 1626522 SNORD12B small nucleolar RNA, C/D box 12B 16990247 100113393 NR_003695,AL049766 Hs.711216 snorna 1602330 SNORD12C small nucleolar RNA, C/D box 12C 14602913,8415643 26765 AL049766,NR_002433,AY349607 E2|E2-1|E3|RNU106|SNORD106|U106 snorna 1602742 SNORD13 small nucleolar RNA, C/D box 13 8973634,8721999,2531075,2247610 692084 NR_003041,AC091144 RNU13|U13 snorna 1354215 SNORD14A small nucleolar RNA, C/D box 14A 8920921 26822 NR_000022,AC116533,D88010 RNU14|RNU14A|U14|U14-S13-5 snorna 1351969 SNORD14B small nucleolar RNA, C/D box 14B 8920921 85388 NR_001452,AC116533,D88010 RNU14B|U14|U14B snorna 2798088 SNORD14C small nucleolar RNA, C/D box 14C 3037489,7545947,2251119 85389 AP000926,NR_001453,Y00371 snorna 2798093 SNORD14D small nucleolar RNA, C/D box 14D 2251119,3037489,7545947 85390 AP000926,NR_001454,Y00371 snorna 2798060 SNORD14E small nucleolar RNA, C/D box 14E 2251119,3037489,7545947 85391 AP000926,NR_003125,Y00371 snorna 1343552 SNORD15A small nucleolar RNA, C/D box 15A 8319909,7789996 6079 NR_000005,AP000744,L16016,L15616 Hs.689081 RNU15A|SNORNA|U15A snorna 1352212 SNORD15B small nucleolar RNA, C/D box 15B 11943484,8319909,7789996 114599 NR_000025,AF281313,AP000744,L15557 Hs.689080 RNU15B|U15B snorna 1602022 SNORD16 small nucleolar RNA, C/D box 16 11875025,8674114,8335006 595097 NR_002440,AB061820,AC116913 Hs.727428 U16 snorna 1602740 SNORD17 small nucleolar RNA, C/D box 17 11387227 692086 NR_003045,AL121585 Hs.680747 HBI-43 snorna 1602021 SNORD18A small nucleolar RNA, C/D box 18A 11875025,8674114,7507233 595098 NR_002441,AB061820,AC116913 U18A snorna 1602020 SNORD18B small nucleolar RNA, C/D box 18B 11875025,8674114,7507233 595099 NR_002442,AB061820,AC116913 U18B snorna 1601897 SNORD18C small nucleolar RNA, C/D box 18C 11875025,8674114,7507233 595100 NR_002443,AB061820,AC116913 U18C snorna 1602737 SNORD19 small nucleolar RNA, C/D box 19 11387227 692089 NR_003047,AC104446 HBII-108 snorna 1626532 SNORD19B small nucleolar RNA, C/D box 19B 16990247 100113381 NR_003687,AC104446 snorna 1602549 SNORD1A small nucleolar RNA, C/D box 1A 14960365 677848 NR_004395,AJ543324,AC015802 R38A|snR38A snorna 1602548 SNORD1B small nucleolar RNA, C/D box 1B 14960365 677849 AC015802,NR_004396,AJ543325 R38B|snR38B snorna 1602547 SNORD1C small nucleolar RNA, C/D box 1C 14960365 677850 AC015802,NR_004397,AJ543326 R38C|snR38C snorna 1602241 SNORD2 small nucleolar RNA, C/D box 2 14960365 619567 NR_002587,AC112907 R39B|SNR39B snorna 1351179 SNORD20 small nucleolar RNA, C/D box 20 8065311,2394707 6082 NR_002908,AC017104,Z34290 RNU20|U20 snorna 1352254 SNORD21 small nucleolar RNA, C/D box 21 7937132 6083 NR_000006,AL162740,Z35312 RNU21|U21 snorna 1344519 SNORD22 small nucleolar RNA, C/D box 22 9387929,8559254,7985025 9304 NR_000008,AP001160,L36588,U40580 Hs.655643 RNU22|U22 snorna 1602735 SNORD23 small nucleolar RNA, C/D box 23 11387227 692091 NR_003048,AC008745 Hs.728111 HBII-115 snorna 1349393 SNORD24 small nucleolar RNA, C/D box 24 9703018,8674114,8482538,7651828 26820 NR_002447,NG_000837,AC002107,AL158826,Z48765,Z48764,AL772161 RNU24|U24 snorna 1346154 SNORD25 small nucleolar RNA, C/D box 25 9387929,8559254 9303 NR_002565,AF081279,AP001160,U40580 RNU25|U25 snorna 1348733 SNORD26 small nucleolar RNA, C/D box 26 9387929,8559254 9302 NR_002564,AP001160,U40580 RNU26|U26 snorna 1352918 SNORD27 small nucleolar RNA, C/D box 27 9387929,8559254 9301 NR_002563,AP001160,U40580 RNU27|U27 snorna 1343428 SNORD28 small nucleolar RNA, C/D box 28 9387929,8559254 9300 NR_002562,AP001160,U40580 RNU28|U28 snorna 1346054 SNORD29 small nucleolar RNA, C/D box 29 9387929,8559254 9297 NR_002559,AP001160,U40580 RNU29|U29 snorna 1349433 SNORD30 small nucleolar RNA, C/D box 30 9387929,8559254 9299 NR_002561,AP001160,U40580 RNU30|U30 snorna 1350784 SNORD31 small nucleolar RNA, C/D box 31 9387929,8559254 9298 NR_002560,AP001160,U40580 RNU31|U31 snorna 1342801 SNORD32A small nucleolar RNA, C/D box 32A 10580157,8764399 26819 NR_000021,AB028893,AC010619,X94598 RNU32|U32|U32A snorna 1602734 SNORD32B small nucleolar RNA, C/D box 32B 8764399 692092 NR_003049,AL645936,AL662826,BX000688,BX927223,CR759766,CR759870,CR788300 U32B snorna 1348219 SNORD33 small nucleolar RNA, C/D box 33 10580157,8764399 26818 NR_000020,AB028893,AC010619,X94599 RNU33|U33 snorna 1350805 SNORD34 small nucleolar RNA, C/D box 34 10580157,8764399 26817 NR_000019,AB028893,AC010619,X94600 RNU34|U34 snorna 1353609 SNORD35A small nucleolar RNA, C/D box 35A 10580157,8764399 26816 NR_000018,AB028893,AC010619,X94601 RNU35|RNU35A|U35 snorna 1346245 SNORD35B small nucleolar RNA, C/D box 35B 10580157 84546 NR_001285,AB028893,AC010619 RNU35B|U35B snorna 1352325 SNORD36A small nucleolar RNA, C/D box 36A 9703018,8764399 26815 AL772161,AL593848,NR_002448,NG_000837,AC002107,AJ003040,AL158826,X97584 RNU36A|U36a snorna 1350667 SNORD36B small nucleolar RNA, C/D box 36B 9703018,8764399 26814 NR_000017,NG_000837,AC002107,AJ003039,AL158826,AL772161 RNU36B|U36b snorna 1347255 SNORD36C small nucleolar RNA, C/D box 36C 9703018,8764399 26813 AL593848,NR_000016,NG_000837,AC002107,AJ003041,AL158826,X97587 RNU36C|U36c snorna 1352874 SNORD37 small nucleolar RNA, C/D box 37 8764399 26812 NR_002602,AC011488,X94602 RNU37|U37 snorna 1342819 SNORD38A small nucleolar RNA, C/D box 38A 8764399 94162 NR_001456,AL592166,X67247 RNU38A|U38A snorna 1346070 SNORD38B small nucleolar RNA, C/D box 38B 8764399 94163 X67247,NR_001457,AL592166 RNU38B|U38B snorna 2289763 SNORD3A small nucleolar RNA, C/D box 3A DISCONTINUED: This record has been withdrawn by HGNC. This record was defined by K00777.1 which is from the flanking region and not from the gene itself. 15574333,15574332,9365252,8440138,6186397,2719960,2531075 780851 NR_006880,AC106017,K00777 RNU3|U3 snorna 1351412 SNORD3B-1 small nucleolar RNA, C/D box 3B-1 9365252,2531075 26851 NR_003271,AC007952,AF020532,AF020533,AF020534 RNU3A1|U3a|U3b1|U3b2 snorna 1642510 SNORD3B-2 small nucleolar RNA, C/D box 3B-2 9365252,2531075 780852 NR_003924,AC007952,AF020535,AF020536 U3-2B|U3b2 snorna 2289762 SNORD3C small nucleolar RNA, C/D box 3C 9365252,2531075 780853 NR_006881,AC106017 U3-3 snorna 2289761 SNORD3D small nucleolar RNA, C/D box 3D 9365252 780854 NR_006882,AC007952 U3-4 snorna 1344851 SNORD41 small nucleolar RNA, C/D box 41 8674114 26810 NR_002751,AC018761,X96640 RNU41|U41 snrna 1354029 SNORD42A small nucleolar RNA, C/D box 42A 9417910,8674114 26809 NR_000014,AC010761,AF001689,X96641 RNU42A|U42|U42A snrna 1351888 SNORD42B small nucleolar RNA, C/D box 42B 9417910 26808 NR_000013,AC010761,AF001689,AJ224023 RNU42B|U42B snorna 1346020 SNORD43 small nucleolar RNA, C/D box 43 Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968,8674114 26807 NR_002439,AJ238853,AL022326,X96642 RNU43|U43 snrna 1348712 SNORD44 small nucleolar RNA, C/D box 44 8674114 26806 NR_002750,AL136170,X96643 RNU44|U44 snrna 1342927 SNORD45A small nucleolar RNA, C/D box 45A 8674114 26805 NR_002749,AL357314,X96644 RNU45A|U45a snrna 1351466 SNORD45B small nucleolar RNA, C/D box 45B 8674114 26804 NR_002748,AL357314,X96645 RNU45B|U45b snrna 1602741 SNORD45C small nucleolar RNA, C/D box 45C 8674114 692085 NR_003042,AL357314 U45C snorna 1346025 SNORD46 small nucleolar RNA, C/D box 46 8764399,8674114 94161 NR_000024,AL592166,X67247,Z69628,X96646 RNU40|RNU46|U40|U46 snorna 1350035 SNORD47 small nucleolar RNA, C/D box 47 8674114 26802 NR_002746,AL136170,X96647 RNU47|U47 snrna 1352935 SNORD48 small nucleolar RNA, C/D box 48 8674114 26801 NR_002745,AL662834,AL671762,AL929592,X96648,CR388202,CR759915 RNU48|U48 snrna 1353404 SNORD49A small nucleolar RNA, C/D box 49A 8674114 26800 NR_002744,AC093484,X96649 RNU49|U49|U49A snorna 1602739 SNORD49B small nucleolar RNA, C/D box 49B 8674114 692087 NR_003043,AC093484 U49B snorna 1345375 SNORD4A small nucleolar RNA, C/D box 4A 9417910 26773 NR_000010,AC010761,AF001689,AJ224024 RNU101A|Z17A|mgh18S-121 snorna 1346958 SNORD4B small nucleolar RNA, C/D box 4B 9417910 26772 NR_000009,AC010761,AF001689,AJ224025 RNU101B|Z17B snorna 1602746 SNORD5 small nucleolar RNA, C/D box 5 15199136 692072 NR_003033,AP001273,AJ609488 mgh28S-2410 snorna 1345508 SNORD50A small nucleolar RNA, C/D box 50A 19683667,18202102,10792466,8674114 26799 NR_002743,AB017710,AL355615,X96662 RNU50|U50 snorna 1602738 SNORD50B small nucleolar RNA, C/D box 50B 10792466 692088 NR_003044,AB017710,AL355615 U50'|U50B snorna 1347366 SNORD51 small nucleolar RNA, C/D box 51 8674114 26798 NR_002589,AC007383,X96650 RNU51|U51 snrna 1344796 SNORD52 small nucleolar RNA, C/D box 52 20041166,8674114 26797 CR388202,CR759915,NR_002742,AL662834,AL671762,AL929592,X96651 RNU52|U52 snrna 1346681 SNORD53 small nucleolar RNA, C/D box 53 8674114 26796 NR_002741,AC097720,X96652 RNU53|U53 snorna 1344613 SNORD54 small nucleolar RNA, C/D box 54 8674114 26795 NR_002437,AC107376,X96653 RNU54|U54 snrna 1351914 SNORD55 small nucleolar RNA, C/D box 55 8764399,8674114 26811 NR_000015,AL592166,X67247,Z69626,X96654 RNU39|RNU55|SNORD39|U39|U55 snorna 1349350 SNORD56 small nucleolar RNA, C/D box 56 8674114 26793 NR_002739,AL049712,X96655 RNU56|U56 snrna 1345062 SNORD56B small nucleolar RNA, C/D box 56B 319139 NR_001276,AC005994 RNU56B snrna 1345494 SNORD57 small nucleolar RNA, C/D box 57 8674114 26792 NR_002738,AL049712,X96656 RNU57|U57 snrna 1354480 SNORD58A small nucleolar RNA, C/D box 58A 8674114 26791 NR_002571,AB061824,AC100778,X96657 RNU58A|U58a snrna 1345763 SNORD58B small nucleolar RNA, C/D box 58B 8674114 26790 AC100778,NR_002572,AB061824,X96658 RNU58B|U58b snrna 1642109 SNORD58C small nucleolar RNA, C/D box 58C 16990247 100124516 NR_003701,AC100778 snorna 1345043 SNORD59A small nucleolar RNA, C/D box 59A 8674114 26789 NR_002737,AC090681,X96659 RNU59|U59 snrna 1602736 SNORD59B small nucleolar RNA, C/D box 59B 8674114 692090 NR_003046,AC090681 U59B snorna 1602744 SNORD6 small nucleolar RNA, C/D box 6 15199136 692075 NR_003036,AP001273,AJ609489 mgh28S-2412 snorna 1344326 SNORD60 small nucleolar RNA, C/D box 60 8674114 26788 NR_002736,AC009065,X96660 RNU60|U60 snrna 1354078 SNORD61 small nucleolar RNA, C/D box 61 11387227,8674114 26787 NR_002735,AL683813,X96661 HBII-342|RNU61|U61 snrna 1351384 SNORD62A small nucleolar RNA, C/D box 62A 8962077 26786 NR_002914,AL358781,U72851 RNU62|U62|U62A snorna 1602733 SNORD62B small nucleolar RNA, C/D box 62B 8962077 692093 NR_003050,AL358781 U62|U62B snorna 1348341 SNORD63 small nucleolar RNA, C/D box 63 8962077,19240791 26785 NR_002913,AC011385,U72852 RNU63|U63 snorna 1605532 SNORD64 small nucleolar RNA, C/D box 64 11106375 347686 NR_001294,NG_002690,AC124312 HBII-13 snorna 1602544 SNORD65 small nucleolar RNA, C/D box 65 11387227 692106 NR_003054,AC093484 HBII-135 snorna 1602543 SNORD66 small nucleolar RNA, C/D box 66 11387227 692107 NR_003055,AC078797 HBII-142 snorna 1602542 SNORD67 small nucleolar RNA, C/D box 67 11387227 692108 NR_003056,AC115088 Hs.693252 HBII-166 snorna 1602248 SNORD68 small nucleolar RNA, C/D box 68 11387227,2247610 606500 NR_002450,AC092123 HBII-202 snorna 1602541 SNORD69 small nucleolar RNA, C/D box 69 11387227 692109 NR_003057,AC104446 HBII-210 snorna 1602743 SNORD7 small nucleolar RNA, C/D box 7 This gene encodes a spliceosomal small nuclear RNA that has orthologs in S. pombe and D. melanogaster. In S. pombe, this gene is required for site-specific 2'-O-methylation of U6 snRNA at position A41. While this is not an essential gene for S. pombe growth, loss of this gene's function may result in a slight decrease in mRNA splicing efficiency. [provided by RefSeq] 11842100 692076 NR_003037,AC015911,AJ007733 Z30|mgU6-47 snorna 1602540 SNORD70 small nucleolar RNA, C/D box 70 11387227 692110 NR_003058,AC064836 HBII-234 snorna 1602539 SNORD71 small nucleolar RNA, C/D box 71 11387227 692111 NR_003059,AC010653 HBII-239|MIRN768|hsa-mir-768 snorna 1602243 SNORD72 small nucleolar RNA, C/D box 72 11387227 619564 NR_002583,AB061834,AC008810,AK124098 HBII-240 snorna 1347544 SNORD73A small nucleolar RNA, C/D box 73A 9573378 8944 AC095055,X87373,Z83330,Z83334,NR_000007 RNU73|RNU73A|U73|U73a snorna 1345267 SNORD73B small nucleolar RNA, C/D box U73B pseudogene 9573378,8647443 114655 NG_000961,AC095055,X87373,Z83334 RNU73B|U73B rna, u73b small nucleolar pseudogene pseudo 1602378 SNORD74 small nucleolar RNA, C/D box 74 15556860,9819378 619498 NR_002579,AF141346,AJ224026,AL136170 U74|Z18 snorna 2291784 SNORD75 small nucleolar RNA, C/D box 75 15556860,9819378 692195 NR_003941,AF141346,AL136170 U75 snorna 2291783 SNORD76 small nucleolar RNA, C/D box 76 15556860,9819378 692196 NR_003942,AF141346,AL136170 U76 snorna 2291782 SNORD77 small nucleolar RNA, C/D box 77 15556860,9819378 692197 NR_003943,AF141346,AL136170 U77 snorna 2291781 SNORD78 small nucleolar RNA, C/D box 78 15556860,9819378 692198 NR_003944,AF141346,AL136170 U78 snorna 1346705 SNORD79 small nucleolar RNA, C/D box 79 15556860,9819378 26770 AL136170,NR_003939,AF141346,AJ224027 RNU103|U79|Z22 snorna 1348850 SNORD8 small nucleolar RNA, C/D box 8 10490628 319103 NR_002916,AL161747,AJ243222 Hs.680078 RNU6C|mgU6-53 snorna 1353378 SNORD80 small nucleolar RNA, C/D box 80 15556860,9819378 26774 NR_003940,AF141346,AJ224022,AL136170 RNU100|U80|Z15 snorna 1348775 SNORD81 small nucleolar RNA, C/D box 81 15556860,9819378 26769 NR_003938,AF141346,AJ224028,AL136170 RNU104|U81|Z23 snorna 1352574 SNORD82 small nucleolar RNA, C/D box 82 The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM] 10684968,10524220,2394707 25826 NR_004398,AC017104,AJ010666 RNU82|U82|Z25 snrna 1352386 SNORD83A small nucleolar RNA, C/D box 83A Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968 116937 NR_000027,AJ238852,AL022326 RNU83A|U83A snorna 1349705 SNORD83B small nucleolar RNA, C/D box 83B Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968 116938 NR_000028,AJ238852,AL022326 RNU83B|U83B snorna 1602533 SNORD84 small nucleolar RNA, C/D box 84 10684929 692199 NR_003065,AL662801,AL662847,BX001040,AJ243199,BX248516,BX927320,CR753820,CR753864 U84 snorna 1602372 SNORD85 small nucleolar RNA, C/D box 85 11387227 692200 NR_003066,AL445235 HBII-251 snorna 1602371 SNORD86 small nucleolar RNA, C/D box 86 11594746 692201 AL049712,NR_004399,AJ311853 U86 snorna 1602235 SNORD87 small nucleolar RNA, C/D box 87 Small nucleolar RNAs (snoRNAs) of the C/D class, such as SNORD87, are involved in 2-prime-methylation of preribosomal RNA precursors (Gogolevskaya et al., 2002 [PubMed 12119114]).[supplied by OMIM] 16226852,12119114,11387227 641648 NR_002598,AC011031 HBII-276|U87 snorna 1602370 SNORD88A small nucleolar RNA, C/D box 88A 11387227 692202 NR_003067,AC010325 HBII-180A snorna 1602369 SNORD88B small nucleolar RNA, C/D box 88B 11387227 692203 NR_003068,AC010325 HBII-180B snorna 1602368 SNORD88C small nucleolar RNA, C/D box 88C 11387227 692204 NR_003069,AC010325 HBII-180C snorna 1602367 SNORD89 small nucleolar RNA, C/D box 89 11387227 692205 NR_003070,AC013722,AK126261 Hs.656503 HBII-289 snorna 1602750 SNORD9 small nucleolar RNA, C/D box 9 10490628 692053 NR_003029,AL135744,AL161747 Hs.675950 mgU6-53B snorna 1602366 SNORD90 small nucleolar RNA, C/D box 90 11387227 692206 NR_003071,AC007066 Hs.693253 HBII-295 snorna 1602365 SNORD91A small nucleolar RNA, C/D box 91A 11387227 692207 NR_003072,AL450226 HBII-296a snorna 1602364 SNORD91B small nucleolar RNA, C/D box 91B 11387227 692208 NR_003073,AL450226 HBII-296b snorna 1602363 SNORD92 small nucleolar RNA, C/D box 92 11387227 692209 NR_003074,AC097720 HBII-316 snorna 1602362 SNORD93 small nucleolar RNA, C/D box 93 11387227 692210 NR_003075,AC005682,CH236948 HBII-336 snorna 1602354 SNORD94 small nucleolar RNA, C/D box 94 14602913 692225 NR_004378,AY349593,AC009309 Hs.723087 U94 snorna 1602238 SNORD95 small nucleolar RNA, C/D box 95 14602913 619570 NR_002591,AC008443,AY349594 U95 snorna 1602237 SNORD96A small nucleolar RNA, C/D box 96A 14602913 619571 NR_002592,AC008443,AY349595 U96A snorna 1602353 SNORD96B small nucleolar RNA, C/D box 96B 14602913 692226 NR_004379,AY349596,AL079334 U96b snorna 1602356 SNORD97 small nucleolar RNA, C/D box 97 14602913 692223 NR_004403,AY349597,AC116535 Hs.723086 U97 snorna 1602361 SNORD98 small nucleolar RNA, C/D box 98 11387227 692211 NR_003076,AL513534 HBII-419 snorna 1602360 SNORD99 small nucleolar RNA, C/D box 99 11387227 692212 NR_003077,AL513497 HBII-420 snorna 1314155 SNPH syntaphilin Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. 1580863 20877624,10707983,12896979,12477932,11780052,9205841,17207965 9751 NM_014723,AL136531,CH471133,AB002372,AF187733,BC035788,CR597443 CAC16177,NP_055538,CAI95140,EAX10641,EAX10642,EAX10643,EAX10644,EAX10645,BAA20829,AAF29901,AAH35788,O15079,ADQ31782 Hs.323833 KIAA0374|MGC46096|bA314N13.5 OTTHUMP00000029965|syntaphilin protein-coding 735399 SNRK SNF related kinase SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM] 12234663,17353931,16344560,15733851,15489334,15342556,14702039,12477932,12168954,12087103,10930554,10878360,8654423,7788527,16306228 54861 NM_017719,NM_001100594,AC104184,AC104434,CH471055,AK000231,AK025449,AK026013,AK291360,AK295187,AK314376,BC071567,BP281284,CR749621,D43636,DA769463,DB080037,U57452 NP_060189,NP_001094064,EAW64693,EAW64694,BAA91023,BAF84049,BAG58191,BAG37003,AAH71567,CAH18415,BAA07744,AAB02237,Q13612,Q9NRH2 Hs.476052 DKFZp779A1866|FLJ20224|HSNFRK|KIAA0096 OTTHUMP00000209954|OTTHUMP00000209956|SNF-1 related kinase|SNF-related serine/threonine-protein kinase|SNF1-related kinase protein-coding 1351534 SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 1580863 20936779,9539711,9774689,17353931,8670905,12226669,17081983,16730941,16723661,16565220,15635413,15489334,15324660,15302935,15175327,14702039,12477932,12421765,12403470,12168954,11991638,11790298,11331595,9872452,8600454,15146077,18029348,16344560,17643375,19615732,19710410,19878916 23020 AC021188,CH471207,Z70200,AB018331,AF085356,AF119874,AJ844618,AK021418,AK023840,AK024391,AK026662,AK090671,AK303465,AK303663,AL831994,AW190145,AY572488,BC001417,BC007577,BC065924,BC112891,BC131784,CR607113,CR610844,CR614576,NM_014014,AK021583,DA109508,NG_016973 NP_054733,EAW71372,EAW71373,CAA94089,BAA34508,AAD40191,AAF69628,CAH59741,BAB14698,BAB14906,BAC03499,BAG64507,BAG64662,AAS78571,AAH01417,AAH07577,AAH65924,AAI12892,AAI31785,O75643,Q5ZF01,Q7L5W4,Q9H8B9,Q9P172,Q9UNV9 Hs.246112 ASCC3L1|BRR2|FLJ11521|HELIC2|RP33|U5-200KD BRR2 homolog|U5 small nuclear ribonucleoprotein 200 kDa helicase|U5 snRNP-specific 200 kDa protein|activating signal cointegrator 1 complex subunit 3-like 1 protein-coding 1605404 SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 7931148,17081983,15815621,15489334,12477932,9085842,17643375,19615732,17207965 11017 NM_006857,AC019206,CH471053,AK291128,AK312041,BC017890,CR591484,CR600623,CR609338,CR617839,CR623125,X76302 NP_006848,AAY14866,EAW99837,EAW99840,BAF83817,BAG34978,AAH17890,CAA53949,Q8WVK2,ADQ32225 Hs.54649 RY1 27K|OTTHUMP00000202209|OTTHUMP00000202210|U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein|U4/U6.U5 snRNP 27 kDa protein|U4/U6.U5 tri-snRNP-associated 27 kDa protein|U4/U6.U5 tri-snRNP-associated protein 3|U4/U6.U5-27K|nucleic acid binding protein RY 1|nucleic acid-binding protein RY-1|putative nucleic acid binding protein RY-1 protein-coding 1602490 SNRNP35 small nuclear ribonucleoprotein 35kDa (U11/U12) The protein encoded by this gene is a homolog of U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal is rich in Arg/Asp and Arg/Glu dipeptides; a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. This gene is differentially expressed in a variety of human tissues. Alternative splicing results in multiple transcript variants encoding distinct proteins. 18559850,15146077,12477932,10520751,8889548,19565553,17207965 11066 NM_180699,NM_022717,AC145423,CH471054,AK290127,BC009622,BC028485,BC047678,BC054034,BC093671,BC111955,BK005197,BM714052,U44798,U44799 NP_851030,NP_073208,EAW98412,EAW98413,EAW98414,BAF82816,AAH09622,AAH47678,AAH54034,AAH93671,AAI11956,DAA05495,AAA86654,AAA86655,Q16560,ADQ31915 Hs.632738 HM-1|MGC138160|U1SNRNPBP U1 snRNP binding protein homolog|U1 snRNP-binding protein homolog|U1-snRNP binding protein homolog|U11/U12 small nuclear ribonucleoprotein 35 kDa protein|U11/U12 snRNP 35 kDa protein|U11/U12 snRNP 35K|U11/U12-35K|protein HM-1 protein-coding 1606327 SNRNP40 small nuclear ribonucleoprotein 40kDa (U5) This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq] 19615732,10788320,9731529,16169070,18029348,9774689,17353931,12226669,17041588,16723661,16710414,16429158,15506927,15489334,12477932,11991638 9410 CR611220,CR615406,CR622464,CR624677,CR736901,EF011621,CR610792,NM_004814,AC114495,AL451070,CH471059,CQ782448,AF090988,AK074516,AK123103,AK298823,AK313800,AL157420,BC001494,BM150898,CR590081,CR602112,CR605147,CR605394,CR609455 ABK41111,Q96DI7,Q9NSS8,ABM84553,ABM86368,NP_004805,CAH71848,EAX07626,EAX07627,CAF85733,AAC69625,BAG51963,BAG60953,BAG36536,CAB75650,AAH01494 Hs.33962 40K|FLJ41108|HPRP8BP|MGC1910|PRP8BP|PRPF8BP|RP11-490K7.3|SPF38|WDR57 38 kDa-splicing factor|Prp8-binding protein|U5 small nuclear ribonucleoprotein 40 kDa protein|U5 snRNP 40 kDa protein|U5 snRNP-specific 40 kDa protein (hPrp8-binding)|U5-40K|U5-40kD protein|WD repeat domain 57 (U5 snRNP specific)|WD repeat-containing protein 57 protein-coding 1319128 SNRNP48 small nuclear ribonucleoprotein 48kDa (U11/U12) 15146077,19217400,18347052,14702039,14574404,12477932,18029348 154007 NM_152551,AL031058,AL390026,CH471087,AJ420586,AK027220,AK056796,AK092158,AK292409,AL832462,BC001558,BC054008,BC062458,BC114630,BC114631,BK005199,CR617787 NP_689764,CAI21647,CAI20238,EAW55216,EAW55217,EAW55218,BAB71287,BAF85098,AAI14631,AAI14632,DAA05497,Q6IEG0 Hs.13366 C6orf151|FLJ32234|MGC138904|MGC138905|dJ336K20B.1|dJ512B11.2 U11/U12 small nuclear ribonucleoprotein 48 kDa protein|U11/U12 snRNP 48 kDa protein|U11/U12 snRNP 48K|U11/U12-48K protein-coding 1316126 SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 1580863 9281376,8816452,2467746,9447963,14561889,12226669,9531537,18559850,18523312,18202700,17622584,17081983,16964243,15489334,15231748,15146197,15144186,14765198,14702039,14688384,12560496,12548559,12477932,12456665,12417631,12218166,12193588,12115232,11780068,11748230,11741604,11514619,11500380,11448987,10725331,10339552,9826776,9799243,9731529,9685421,9016565,8889548,8746626,8332490,8261509,7516470,3028775,2477447,2447561,2147422,1833625,9472028,17353931,20500824,20519584,19232124,19419839,19784376 6625 X84841,AC008687,CH471177,M57935,M57939,AK027127,AK056808,AK096783,AK293120,AL117399,AL117507,AL832819,BC000342,BC001315,BE397125,BM969999,NM_003089,CR592978,CR593135,CR595497,CR596341,CR597473,CR597769,CR599254,CR599480,CR600727,CR608261,CR608610,CR611310,CR611785,CR612805,CR613069,CR616069,CR616073,CR617222,CR623618,CR624326,CR624970,CR626532,M22636,X04654,X06811,X06812,X06814,X06815,CN292681,X06816,X06817,X07401,X07402,X07403 CAA30305,CAA59278,P08621,Q9UFS1,NP_003080,EAW52445,EAW52446,EAW52447,EAW52448,EAW52449,EAW52450,EAW52451,EAW52452,EAW52453,AAA36571,AAA36572,AAA36573,BAG51812,BAG53365,BAF85809,CAB55900,CAB55969,AAH00342,AAH01315,AAA03001,CAA28352,CAA29960,CAA29961,CAA29963,CAA29964,CAA29965,CAA29966,CAA30303,CAA30304 Hs.467097,Hs.704056 RNPU1Z|RPU1|SNRP70|Snp1|U1-70K|U170K|U1AP|U1RNP U1 small nuclear ribonucleoprotein 70 kDa|U1 snRNP 70 kDa protein-coding 1316600 SNRPA small nuclear ribonucleoprotein polypeptide A 1580863 9848648,17353931,12226669,9731529,17942741,17507659,16189514,15890361,15635413,15489334,15231748,12477932,11101529,10742179,10688667,10648562,9312034,9265619,8609632,8602269,8070414,7984237,2962859,2147232,1833186,1831431,1826055,1701111,11420046,9783582,1696729,15146197 6626 NM_004596,AC020945,CH471126,M60784,AK293140,AK313182,BC000405,BC008290,CR591403,CR593045,CR595370,CR597345,CR597355,CR597793,CR602490,CR604415,CR606390,CR606659,CR607723,CR609533,CR611065,CR611939,CR612581,CR613649,CR614107,CR614230,CR617901,CR620163,CR620634,CR622302,CR624653,X06347,BQ002918,CN286572 NP_004587,EAW56995,EAW56996,AAA61245,BAG56688,BAG35999,AAH00405,AAH08290,CAA29653,P09012 Hs.466775 Mud1|U1-A|U1A U1 small nuclear RNP-specific A|U1 small nuclear ribonucleoprotein A|U1 snRNP A|U1 snRNP-specific protein A protein-coding 1321959 SNRPA1 small nuclear ribonucleoprotein polypeptide A' 1580863 17353931,2928112,12226669,9731529,16964243,15635413,15489334,14702039,12477932,11991638,11790298,11780068,10811961,10339552,9716128,9531537,9373149,8331728,8125298,2148205,11101529,12234937,17643375,19615732 6627 AJ130971,AJ130972,AK090986,AK223070,AK223110,AK290078,AK312200,AL538391,BC022816,BC067846,BC071717,CR599973,CR603117,CR605454,CR616055,CR618367,CR618414,CR620557,X13482,NM_003090,AC023024,CH471101 EAX02299,ABM87083,EAX02300,CAA10271,CAA10272,BAD96790,BAD96830,BAF82767,BAG35133,AAH22816,AAH67846,AAH71717,CAA31838,O95485,P09661,Q53G21,Q53G61,Q6NVW9,Q9UEN1,ABM83764,NP_003081,EAX02296,EAX02297,EAX02298 Hs.528763 Lea1 U2 small nuclear ribonucleoprotein A'|U2 small nuclear ribonucleoprotein polypeptide A'|U2 snRNP A' protein-coding 733493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq] 1580863 8076607,11714716,11748230,2531083,15130578,10531003,15782174,15494309,15231747,12975319,12560496,12477932,12403470,12095920,12065586,11991638,11780068,11780052,11756452,11747828,11720283,11713266,11641277,11549288,11522829,11343899,11226169,11149922,10725331,10601333,10556313,10025403,9724750,9417867,9323129,8510173,7683587,2524838,2522439,2522186,2174118,1825643,1694885,1693924,1376292,10556282,12234937,11604498,16169070,17353931,15939020,9010216,17207965,11574479,12226669,15105431,15848170,16000308,16120600,17643375,19997741,20085707,20418484,15146077 6628 AY742712,CR619703,BC003530,BC080516,BM559678,CR456969,CR592024,CR598745,CR600173,CR604766,CR607671,CR609487,CR615802,NM_198216,AF134825,AL049650,CH471133,CQ834772,X52979,AK301034,AK301206,AK307093,AK312620,NM_003091,CR619872,CR620777,CR622172,CR623855,CR624875,J04564,M34081,M34082,X15893,X17567,X17568 AAU89981,AAH80516,CAG33250,NP_003082,NP_937859,AAD54488,AAD54489,CAB46714,CAB46715,EAX10596,EAX10597,EAX10598,EAX10599,CAH05601,CAA37170,CAA37171,BAG62648,BAG62782,BAG35506,AAA60151,AAA36578,AAA36579,CAA33902,CAB57867,CAB57868,P14678,Q15182,Q5XPV6,Q66K91,Q9UIS4,ADQ32029 Hs.83753 COD|SNRPB1|Sm-B/B'|SmB/B'|SmB/SmB'|snRNP-B B polypeptide of Sm protein|Sm protein B/B'|sm-B/Sm-B'|small nuclear ribonucleoprotein polypeptide B|small nuclear ribonucleoprotein polypeptides B and B'|small nuclear ribonucleoprotein-associated proteins B and B' protein-coding 1320950 SNRPB2 small nuclear ribonucleoprotein polypeptide B'' The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 16341674,16344560,11780068,11780052,11149922,10556282,9716128,9576861,9323129,9016565,7593271,2139037,12234937,17353931,2951739,12226669,9731529,15592455,15489334,12477932,12084575,11991638 6629 AI741327,BM772256,DA088017,CR612578,NM_198220,AL034428,CH471133,AA953215,AB451234,AB451359,AK313004,BC008311,BC018022,BC022311,BC036737,BF243328,CR592015,CR592596,CR595063,CR601368,CR605743,CR605849,CR606972,CR607918,NM_003092,CR616888,CR620323,CR625358,CR625592,M15841 NP_003083,NP_937863,CAB38777,EAX10284,EAX10285,EAX10286,BAG70048,BAG70173,BAG35840,AAH08311,AAH18022,AAH36737,AAA36796,P08579,Q86YK2,ABM81790,ABM84945 Hs.280378 MGC24807|MGC45309|Msl1 U2 small nuclear ribonucleoprotein B''|U2 snRNP B''|small nuclear ribonucleoprotein polypeptide B2 protein-coding 1345061 SNRPBL1 small nuclear ribonucleoprotein polypeptide B-like 1 6630 4109592 SNRPBP1 small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1 9847074 100499258 AC004862,NG_023439,CH236949 pseudo 1314465 SNRPC small nuclear ribonucleoprotein polypeptide C 1580863 10725331,2961811,1826349,8076607,12486009,8532530,8798632,15312772,8972845,10068039,15525645,15635413,12477932,11748230,10827180,9826776,9373149,9031639,8125298,2971157 6631 NM_003093,AL139100,CH471081,CS185544,AK223098,AK311955,BC121082,BC121083,CR603118,CR625497,M18465,X12517,AI356808,BU153661,BU508721,CD109745,NR_029472 NP_003084,CAI20350,CAI20351,CAI20352,EAX03795,EAX03796,EAX03797,CAJ42725,BAD96818,BAG34895,AAI21083,AAI21084,AAA36618,CAA31037,P09234,Q53G33,Q5TAL2,Q5TAL3,Q5TAL4 Hs.1063 FLJ20302|U1-C|U1C|Yhc1 OTTHUMP00000016240|U1 small nuclear RNP specific C|U1 small nuclear ribonucleoprotein C|U1 snRNP C|U1 snRNP protein C protein-coding 1314912 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. [provided by RefSeq] 15231747,12234937,3260384,11714716,1701240,15130578,7527560,10531003,16247014,15489334,15146077,14559993,12975319,12477932,11991638,11780068,11756452,11748230,11747828,11713266,11522829,11389857,11226169,11135666,11101529,10942426,10747894,10747849,10725331,10601333,10025403,9417867,9323129,9168134,2528429,10556282,14524621,10851237,12226669 6632 NM_006938,AC106037,CH471088,L36186,L36187,L36188,AB451227,AB451350,AJ577268,BC001721,BC072427,CR542239,CR613811,J03798 NP_008869,EAX01130,AAA85339,BAG70041,BAG70164,CAE11897,AAH01721,AAH72427,CAG47035,AAA36620,P62314,Q7Z5A3 Hs.464734 HsT2456|SMD1|SNRPD|Sm-D1 Sm-D autoantigen|small nuclear ribonucleoprotein Sm D1|snRNP core protein D1 protein-coding 1312873 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 11714716,11748230,12065586,1701240,15130578,7527560,10531003,16344560,16169070,15489334,15231747,15146077,15057824,14667819,12975319,12577067,12477932,11991638,11780068,11756452,11226169,11135666,11101529,10942426,10725331,10601333,10025403,9417867,9323129,3260384,10556282,12234937,11713266,15939020,15782160,16712791,12226669,15848170,17643375 6633 NM_004597,NM_177542,AC007191,CH471126,AJ707552,AK291912,BC000486,BC001930,BG528418,BU532756,CB136390,DA325073,U15008 NP_004588,NP_808210,AAD22673,EAW57373,EAW57374,BAF84601,AAH00486,AAH01930,AAC13776,P62316,ABM82172,ABM85358 Hs.515472 SMD2|SNRPD1|Sm-D2 small nuclear ribonucleoprotein Sm D2|snRNP core protein D2 protein-coding 1343555 SNRPD2P small nuclear ribonucleoprotein D2 pseudogene 17643375 119358 AL390206,CH471066,NG_023172 EAW50123 SNRPD2P|bA478K7.1 hypothetical protein LOC119358 pseudo 3302339 SNRPD2P2 small nuclear ribonucleoprotein D2 pseudogene 2 12477932 645339 AL445524,BC014600,NR_033826 AAH14600,Q4G1D0 Hs.382049 pseudo 1345342 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. [provided by RefSeq] 12975319,17709427,1701240,15130578,18029348,10531003,7527560,15939020,15782174,15642139,15489334,15461802,15231747,15146077,14559993,12477932,12065586,11991638,11790298,11780068,11756452,11748230,11747828,11714716,11713266,11389857,11226169,11101529,10747894,10725331,10601333,10025403,9417867,9323129,10556282,12234937,10851237,11574479,12226669,15848170,17643375,20085707 6634 NM_004175,AP000356,CH471095,AB451249,AB451373,AK296173,BC000457,BC003150,BC034447,BF344644,BM928709,CR456583,CR600958,U15009 NP_004166,EAW59670,BAG70063,BAG70187,BAG58909,AAH00457,AAH03150,CAG30469,AAA57034,P62318,CAK54613,CAK54912 Hs.356549 SMD3|Sm-D3 OTTHUMP00000198382|small nuclear ribonucleoprotein Sm D3|small nuclear ribonucleoprotein polypeptide D3|snRNP core protein D3 protein-coding 1313167 SNRPE small nuclear ribonucleoprotein polypeptide E 10556282,12234937,11969417,11713266,15939020,20460314,11714716,11748230,15130578,2974536,10531003,19483722,19404844,19378335,18567582,18434602,18208561,18045987,16960555,15489334,15231747,15146077,14667819,12477932,12065586,12022225,11991638,11756452,11226169,10725331,10601333,10025403,9417867,9323129,9020971,8098025,2974540,2972723,2522439,2440864,2143747,1835977,1688550,9154803,20807807,11574479,12226669,15848170,19917255 6635 NM_003094,AC114402,AC118554,CH471067,M21258,AK307255,AK312130,BC002639,BC072433,BC090951,CR603313,M15919,M37716,X12466 NP_003085,EAW91494,EAW91495,AAB59365,BAG35066,AAH02639,AAH90951,AAA36621,AAA90926,CAA31007,P62304 Hs.334612,Hs.654418 B-raf|SME|Sm-E sm protein E|small nuclear ribonucleoprotein E|snRNP-E protein-coding 1347491 SNRPEL1 small nuclear ribonucleoprotein polypeptide E-like 1 17643375 414153 NG_006656,AL354707 CAH73282 bA390F4.4 pseudo 2305219 SNRPEP1 small nuclear ribonucleoprotein polypeptide E pseudogene 1 1839226 100129454 NG_008773,AC112191,M65126 pseudo 1313451 SNRPF small nuclear ribonucleoprotein polypeptide F 7744013,15231747,17353931,15130578,10531003,11991638,16169070,15939020,15489334,15146077,12477932,11756452,11748230,11226169,10725331,10601333,10556282,10025403,9417867,9020971,8889548,2974540,2522439,1688550,12234937,11714716,11574479,12226669,17643375 6636 NM_003095,AC090001,CH471054,AK311752,BC002505,BC063397,BC128452,BC128453,BM972965,BU861031,CR456751,X85372 NP_003086,EAW97549,EAW97548,BAG34695,AAH02505,AAH63397,AAI28453,AAI28454,CAG33032,CAA59688,P62306 Hs.105465 SMF|Sm-F sm protein F|small nuclear ribonucleoprotein F|snRNP-F protein-coding 1342723 SNRPFP1 small nuclear ribonucleoprotein polypeptide F pseudogene 1 170550 NG_001056,AL162615 dJ1041C10.2 pseudo 1353294 SNRPG small nuclear ribonucleoprotein polypeptide G 17207965,12165861,17353931,7744013,15130578,10531003,16189514,16169070,15939020,15489334,15146077,14603251,12477932,11991638,11748230,11226169,10725331,10601333,10556282,9417867,9020971,1387914,12234937,11714716,11574479,12226669,17643375 6637 NM_003096,AC079338,CH471053,CS185595,BC000070,BC022432,BC035103,BC066302,BC070166,BC071880,BC106055,CR456918,X85373 ADQ33142,NP_003087,AAX81996,EAW99817,EAW99818,CAJ42776,AAH00070,AAH22432,AAH35103,AAH66302,AAH70166,AAH71880,AAI06056,CAG33199,CAA59689,P62308,Q49AN9 Hs.465167,Hs.516076,Hs.631639,Hs.654528 MGC117317|SMG|Sm-G OTTHUMP00000204047|OTTHUMP00000204048|OTTHUMP00000204050|sm protein G|small nuclear ribonucleoprotein G|snRNP-G protein-coding 1345744 SNRPGP small nuclear ribonucleoprotein polypeptide G pseudogene 326272 NG_002533,AL118556 SNRPGP pseudo 4889675 SNRPGP10 small nuclear ribonucleoprotein polypeptide G pseudogene 10 100130289 AADB02001095,ABBA01027418,AC098936 pseudo 1350313 SNRPGP2 small nuclear ribonucleoprotein polypeptide G pseudogene 2 387610,100130003 AC090897,NG_027990 HsT2742 pseudo 4889672 SNRPGP4 small nuclear ribonucleoprotein polypeptide G pseudogene 4 100130368 AADB02018746,ABBA01028947,AC115085 pseudo 4889753 SNRPGP9 small nuclear ribonucleoprotein polypeptide G pseudogene 9 100506574 AADB02002089,ABBA01000773,AC010906,XM_003118859,XM_003119869,XM_003120363 XP_003118907,XP_003119917,XP_003120411 small nuclear ribonucleoprotein G-like|small nuclear ribonucleoprotein polypeptide G pseudogene 9 protein-coding 1343749 SNRPN small nuclear ribonucleoprotein polypeptide N The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq] 1601354 16116039,15939761,15565282,15489334,15105431,15014980,14702039,14500540,12477932,12456665,12244096,12045206,11726556,11713266,11317358,11159938,11149922,11106375,10725331,10556313,10318933,9931342,9915945,9590284,9373149,9070929,8845846,8841186,8571960,8363612,8125298,7849716,2753153,2528429,2522449,2522186,1303277,9417867,14715275,1533223,7512861,18627066,18361419,17903307,17262171,16357227,16169070,17353931,17643375,19595458 1601354 6638 AF400494,BC080646,NM_022807,NM_022808,NM_022806,NM_022805,NM_003097,NG_002690,AC090602,AC090983,AC100774,AC124303,AC124312,AC124997,AF087645,AF087646,AF087647,AF087648,AF087649,AF134832,AF148319,AB061718,AF092911,AF319522,AF319523,AF319524,AF400432,AF400485,AF400486,AF400487,AF400488,AF400489,AF400490,AF400491,CH471151,AF400492,AF400493,AF400495,AF400496,AF400497,AF400498,AF400499,AF400500,AF400501,AF400502,AK090888,AK094315,AK096584,AK123119,AK222633,AL157455,AL832758,AY362862,AY362863,AY362864,AY362865,AY362866,AY421730,BC000611,BC003180,BC016168,BC018809,BC024777,BC025178,BC035280,BC043194,X16163,X15892,BX648788,CR450350,CR591152,CR593346,CR593721,CR593899,CR594630,CR595630,CR597560,CR599234,CR599902,CR604539,CR620079,CR623042,J04615,L80004,L80005,U41303,U81001,BC113069,NG_012958 NP_073718,NP_073719,NP_073717,NP_073716,NP_003088,AAD54487,EAW57613,EAW57614,EAW57615,EAW57616,EAW57617,EAW57618,EAW57619,EAW57620,EAW57621,EAW57622,EAW57623,BAB69068,AAK18178,AAK92481,BAG53873,BAD96353,AAH00611,AAH03180,AAH24777,AAH25178,CAA33901,CAA34288,P63162,Q53HE7,Q5HYA3,Q6LBS1,Q96Q13,Q9BPU5,Q9UKR4,ABM83812,ABM87134,CAI46029,CAG29346,AAA36617,AAA98969 Hs.555970,Hs.564847,Hs.578619,Hs.585703,Hs.592473,Hs.621316,Hs.632166 DKFZp686C0927|DKFZp686M12165|DKFZp761I1912|DKFZp762N022|FLJ33569|FLJ36996|FLJ39265|HCERN3|MGC29886|PWCR|RT-LI|SM-D|SMN|SNRNP-N|SNURF-SNRPN SM protein N|sm protein D|sm-N|small nuclear ribonucleoprotein-associated protein N|tissue-specific splicing protein|tissue-specific-splicing protein protein-coding 1316039 SNTA1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq] 1580863 17081983,16637659,16533813,16344560,16192273,15489334,15024025,14702039,14623885,12477932,12206805,11780052,11747091,11717465,11571312,11551227,11352924,11278583,11168526,11163757,11069112,10995443,10404183,10230395,10221915,10212242,9512352,9412493,8612778,7890602,9356463,10373412,10545507,16169070,8576247,18591664,16192269,16192274,19684871,20009079,14722086 6640 NM_003098,NG_011622,AL355392,CH471077,AK095942,AK291994,AK301800,AU118614,BC026215,BC113813,CR593272,S81737,U40571 NP_003089,CAC15884,EAW76314,EAW76315,EAW76316,EAW76317,BAG53172,BAF84683,BAG63252,AAH26215,AAI13814,AAB36398,AAC50448,Q13424,Q29RY0,ABM84492,ABM87815 Hs.31121 LQT12|SNT1|TACIP1|dJ1187J4.5 59 kDa dystrophin-associated protein A1 acidic component 1|acidic alpha 1 syntrophin|alpha-1-syntrophin|pro-TGF-alpha cytoplasmic domain-interacting protein 1|syntrophin-1 protein-coding 1317088 SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq] 1580863 11352924,8183929,8119949,16533813,16192292,16192270,16192269,15489334,15024025,12665801,12477932,12136098,11168526,11069112,10545507,10212242,9482110,9412493,8576247,7844150,20208534 6641 NM_021021,AC104958,AC105142,AC129906,AJ333934,CH471060,L31529,AF028828,AK025100,AK026095,AK292655,BC023571,BC098573 NP_066301,EAW92008,AAA81523,AAB84253,BAF85344,AAH98573,Q13884 Hs.46701 59-DAP|A1B|BSYN2|DAPA1B|FLJ22442|MGC111389|SNT2|SNT2B1|TIP-43 59 kDa dystrophin-associated protein A1 basic component 1|beta-1-syntrophin|dystrophin-associated protein A1, 59kD, basic component 1|syntrophin-2|tax interaction protein 43 protein-coding 1318541 SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq] 1580863 8576247,17081983,16964243,16533813,15489334,15024025,14759258,12899872,12477932,12417987,12206805,12136098,12054535,11483505,11352924,11168526,11043403,10995443,10725395,10404183,9412493,8183929,12763866,19615732,19786618 6645 NM_006750,AC009131,AC026464,AC026474,AJ329412,AJ331949,CH471092,AF243385,BC031058,BC035134,BC036429,BC048215,U40572,XM_003118481 NP_006741,EAW83258,EAW83259,EAW83260,AAK15149,AAH48215,AAC50449,Q13425,ACE87138,ACE86457,XP_003118529 Hs.461117 D16S2531E|EST25263|SNT2B2|SNT3|SNTL 59 kDa dystrophin-associated protein A1 basic component 2|beta-2-syntrophin|dystrophin-associated protein A1, 59kD, basic component 2|syntrophin-3|syntrophin-like protein-coding 1347731 SNTG1 syntrophin, gamma 1 The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This gene is specifically expressed in the brain. Transcript variants for this gene have been described, but their full-length nature has not been determined. [provided by RefSeq] 1580863 10747910,17903307,16533813,16381901,15761153,15489336,15489334,15088139,12477932,11352924,11230166,11076863,11062261,12877659,12832401,11256614,15485858,20379614,20416077 54212 NM_018967,AC023762,AC023842,AC087173,AC087366,AC090450,AC090539,AC103784,AC104376,CH471068,AJ003030,AK314084,AL161971,BC075072,BC104829,BC143695 NP_061840,EAW86704,EAW86705,EAW86706,CAB92968,BAG36781,CAB82311,AAH75072,AAI04830,Q9NSN8,CAL38547 Hs.584914 G1SYN|SYN4 gamma-1-syntrophin|gamma1-syntrophin|syntrophin 4|syntrophin-4 protein-coding 1350202 SNTG2 syntrophin, gamma 2 This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq] 1580863 17292328,10747910,12477932,12429735,11329013 54221 NM_018968,AC114808,AC116614,AC144444,AC144527,CH471053,AJ003029,BC035783,BC125251,AC108462,AC140476,AC225604,BG208326 NP_061841,EAX01092,CAB92969,AAI25252,Q9NY99 Hs.595069 G2SYN|MGC133174|SYN5 OTTHUMP00000199936|gamma-2-syntrophin|gamma2-syntrophin|syntrophin 5|syntrophin-5 protein-coding 2306150 SNTN sentan, cilia apical structure protein 18829862,16641997 132203 NM_001080537,AC136289,AK126350,BR000723 NP_001074006,FAA00429,A6NMZ2 Hs.130704 FLJ44379|S100A1L|S100AL|sentan OTTHUMP00000213412|OTTHUMP00000213414|Protein S100-A1-like|S100 calcium-binding protein A1-like|S100A-like protein|sentan protein-coding 1353124 SNUPN snurportin 1 The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863 15489334,14702039,12477932,12095920,10209022,9670026,15130578,10531003,19389996,16169070,16030253,15920472,19619473 10073 NM_001042588,NM_005701,NM_001042581,AC105020,AC105036,CH471136,AF039029,AK054641,AK289475,BC004203,BU945130,CD244425,CR456811,CR598709,CR623423,CR623907 NP_001036053,NP_005692,NP_001036046,EAW99245,EAW99246,AAC70906,BAG51404,BAF82164,AAH04203,CAG33092,O95149,ABM84014,ABM87359 Hs.21577 KPNBL|RNUT1|Snurportin1 RNA U transporter 1|RNA, U transporter 1|rna, u transporter 1|snurportin-1 protein-coding 736038 SNURF SNRPN upstream reading frame This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq] 634164,1580863 10318933,16344560,16116039,15489334,15014980,12477932,11726556,8845846,8571960,8363612,2753153,2528429,2522449,2522186,11696545,17207965 634164 8926 NM_022804,NM_005678,NG_002690,AC090602,AC124312,CH471151,AF101044,AI017249,AK098563,AW451120,DA134019,NG_012958 NP_073715,NP_005669,EAW57625,EAW57626,EAW57627,AAD31391,Q9Y675,ADQ31631 Hs.564847 OTTHUMP00000159464|SNRPN upstream reading frame protein protein-coding 1321977 SNW1 SNW domain containing 1 This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. [provided by RefSeq] 1580863 10713164,16102918,9569025,15194481,9632709,18029348,16595688,16169070,16083285,15905409,15635413,15489334,15316101,14985122,12840015,12529369,12508121,12508107,12477932,12466551,12101239,11991638,11522815,11514567,11509665,11404076,11371506,11278756,10644367,15546612,12650714,15604093,15878163,17643375,18996344,19818711,19852851,19934264,20007319,20056645 22938 NM_012245,AC008044,AC008372,CH471061,U43960,AF045184,AK292274,AK293619,AK302246,BC032377,BC040112,BC046105,BC065286,BC105585,BC108903,BT020060,BT020061,CR457433,CR594471,U51432,AK316087 NP_036377,AAF01479,AAF23325,EAW81305,EAW81306,EAW81307,EAW81308,AAB48857,AAC31697,BAF84963,BAG57078,BAG63598,AAH40112,AAH46105,AAH65286,AAI05586,AAI08904,AAV38863,AAV38864,CAG33714,AAC15912,Q0D2M5,Q13573,Q6I9S2,Q6P151,Q9ULA6,BAH14458 Hs.445498 Bx42|MGC119379|NCOA-62|PRPF45|Prp45|SKIIP|SKIP SKI interacting protein|SKI-interacting protein|SNW domain-containing protein 1|homolog of Drosophila BX42|nuclear protein SkiP|nuclear receptor coactivator NCoA-62|nuclear receptor coactivator, 62-kD|ski interacting protein protein-coding 68962 SNX1 sorting nexin 1 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq] 11997453,8125298,11278302,9819414,11279102,18088323,17502486,17145813,17101778,16487940,16407403,15882442,15673616,15498486,15489334,12878157,12657642,12477932,12198132,12058063,20070609,11309204,11110793,11102511,9373149,9110174,8638121,8619474,11410165 6642 NM_152826,NM_148955,AC021541,AC100840,CH471082,AB209013,AF065483,AF065484,AF131792,AK128179,AK222561,AK222793,AK291752,AK310618,AL050148,AU279817,BC000357,BQ935515,BT006983,CR617673,CR620387,U53225,NM_003099 NP_003090,NP_690039,NP_683758,EAW77663,EAW77664,EAW77665,EAW77666,BAD92250,AAC17182,AAC17183,BAC87312,BAD96281,BAD96513,BAF84441,AAH00357,AAP35629,AAA98672,Q13596,Q53GY8,Q53HL9,Q59GU6,Q6ZRJ8,ABM81677,ABM84844 Hs.188634 HsT17379|MGC8664|SNX1A|Vps5 sorting nexin 1A|sorting nexin-1 protein-coding 1314019 SNX10 sorting nexin 10 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein whose function has not been determined. [provided by RefSeq] 1580863 17012226,12853948,12690205,12477932,12461558,11485546 29887 AC004540,AC010677,AC074295,CH236948,CH471073,AF121860,AK296142,AK307905,AK309162,AK311256,AK312850,AK316088,BC031050,BC034992,BM147978,BX648363,CR612403,NM_013322,BG399132,BJ995940,BM147840,NM_001199835,NM_001199837,NM_001199838,NR_037670 NP_037454,AAS02029,AAS07476,EAL24234,EAW93848,EAW93849,EAW93850,EAW93851,AAD27833,BAG58882,BAG35703,BAH14459,AAH31050,AAH34992,Q75MD2,Q75MY3,Q8N5Z3,Q9Y5X0,ABM83346,ABM86560,NP_001186764,NP_001186766,NP_001186767 Hs.520714 MGC33054 OTTHUMP00000202479|sorting nexin-10 protein-coding 1316444 SNX11 sorting nexin 11 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq] 1580863 15489334,14702039,12477932,12461558,11485546 29916 NM_152244,NM_013323,AC006468,CH471109,AF121861,AK023932,AK091852,AK296095,AK296569,AK298551,BC000768,BC103721,BT006723,CR593364,AK316374 NP_689450,NP_037455,EAW94752,EAW94753,EAW94754,EAW94755,EAW94756,EAW94757,AAD27834,BAB14732,BAG52428,BAG58849,BAG59189,BAG60747,AAH00768,AAI03722,AAP35369,Q9Y5W9,BAH14745 Hs.15827 MGC111019 sorting nexin-11 protein-coding 1350610 SNX12 sorting nexin 12 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. [provided by RefSeq] 1580863 17081983,16166738,15592455,15489334,12477932,12461558,11485546,17474147 29934 NM_013346,AL590764,CH471132,AF171229,AK312977,BC020559,BC080535,BC103847,BC103848,BM805683,BT007203,CR624966 NP_037478,EAX05323,EAX05324,EAX05325,AAD48491,BAG35814,AAI03848,AAI03849,AAP35867,Q3SYF1,Q9UMY4 Hs.260750 MGC118982|MGC118983 sorting nexin-12 protein-coding 1320299 SNX13 sorting nexin 13 This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq] 1580863,4140388 16344560,15489334,14759258,14702039,12477932,12461558,12438708,11729322,11485546,9872452,20379614 4140388 23161 DB050735,AC073205,AC080080,CH236948,CH471073,AB018256,AF121862,AF420470,AK001861,AK023740,AK026643,AK294582,AK307453,AK315135,AL353943,BC022060,BC041844,BC045667,BC050289,BG718588,BX503974,NM_015132 Q86XC4,Q9NSH0,Q9Y5W8,ACT64562,ACT64563,NP_055947,EAW93689,EAW93690,EAW93691,EAW93692,EAW93693,EAW93694,EAW93695,EAW93696,EAW93697,EAW93698,EAW93699,BAA34433,AAD27835,AAL37728,BAG51222,BAG57773,BAG37586,CAB89251,AAH22060,AAH45667 Hs.487648 KIAA0713|RGS-PX1 OTTHUMP00000202284|rgs domain- and phox domain-containing protein|sorting nexin-13 protein-coding 1322101 SNX14 sorting nexin 14 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 15489334,14702039,12477932,12461558,11736640,11500980,11485546 57231 NM_153816,AL136082,AL589666,CH471051,AF121863,AJ420561,AK000362,AK026479,AK095380,AK125063,AK226097,AK295417,AY044865,BC005110,BC046520,BC068589,BC095419,BI458735,BI463232,NM_020468,CB054302 NP_065201,NP_722523,CAI20444,CAI20445,CAI40162,CAI40163,CAI40166,EAW48631,EAW48632,EAW48633,AAD27836,BAG58367,AAK97796,AAH05110,AAH46520,AAH68589,AAH95419,Q9Y5W7 Hs.485871 MGC13217|RGS-PX2|RP11-321N4.2 OTTHUMP00000220881|OTTHUMP00000220929|OTTHUMP00000220930|OTTHUMP00000220931|OTTHUMP00000220932|sorting nexin-14 protein-coding 1314058 SNX15 sorting nexin 15 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. This gene encodes two transcript variants encoding distinct isoforms. [provided by RefSeq] 1580863 11085978,16189514,15489334,14702039,12477932,11208079,11181995,9373149,9253601,8125298,16169070,20843780,12676568,15372247,16344560 29907 NM_013306,NM_147777,AP000436,AP003068,CH471076,AB209439,AF001435,AF175267,AF175268,AK315034,AK315642,BC009897,BC012767,BC014520,BE547440,BE884806,BT006631,BX444780,CR595019,CR614003,CR619183,HQ205601,HQ205602,HQ205603,HQ205604,HQ205605,HQ205606,HQ205607,HQ205608,HQ205609,HQ205610,HQ205611,HQ205612,HQ205613,HQ205614,HQ205615,HQ205616,HQ205617,HQ205618,HQ205619,HQ205620,HQ205621,HQ205622,HQ205623,HQ205624,HQ205625,HQ205586,HQ205587,HQ205588,HQ205589,HQ205590,HQ205591,HQ205592,HQ205593,HQ205594,HQ205595,HQ205596,HQ205597,HQ205598,HQ205599,HQ205600,DA079695 NP_037438,NP_680086,EAW74334,EAW74336,EAW74337,BAD92676,AAB81205,AAF89955,AAF89956,BAG38009,AAH09897,AAH12767,AAH14520,AAP35277,O14612,Q59FM1,Q9NRS6,ADP91254,ADP91255,ADP91256,ADP91257,ADP91258,ADP91259,ADP91260,ADP91261,ADP91262,ADP91263,ADP91264,ADP91265,ADP91266,ADP91267,ADP91268,ADP91269,ADP91270,ADP91271,ADP91272,ADP91273,ADP91274,ADP91275,ADP91276,ADP91277,ADP91278,ADP91279,ADP91280,ADP91281,ADP91282,ADP91283,ADP91284,ADP91285,ADP91286,ADP91287,ADP91288,ADP91289,ADP91290,ADP91291,ADP91292,ADP91293,ADP91294,ADP91295,ADP91296,ADP91297,ADP91298,ADP91299,ADP91300,ADP91301,ADP91302,ADP91303,ADP91304,ADP91305,ADP91306,ADP91307,ADP91308,ADP91309,ADP91310,ADP91311,ADP91312,ADP91313,ADP91314,ADP91315,ADP91316,ADP91317,ADP91318,ADP91319,ADP91320,ADP91321,ADP91322,ADP91323,ADP91324,ADP91325,ADP91326,ADP91327,ADP91328,ADP91329,ADP91330,ADP91331,ADP91332,ADP91333 Hs.80132 HSAF001435 OTTHUMP00000035515|clone iota unknown protein|sorting nexin-15 protein-coding 733907 SNX16 sorting nexin 16 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq] 16344560,15489334,12813048,12477932,12461558,11736640,11485546,17207965,20445134,19754948 64089 NM_152837,NM_152836,NM_022133,AC087349,AC132219,CH471068,AF305779,AK290903,AL833763,BC033630,BG700892,BG739930,CB962009,DA307370 NP_690050,NP_690049,NP_071416,EAW87108,EAW87109,AAG25676,BAF83592,CAH56235,AAH33630,P57768,Q658L0,ADQ32489 Hs.492121 DKFZp666H147 sorting nexin-16 protein-coding 1315030 SNX17 sorting nexin 17 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. 1580863 17474147,15231748,15121882,14739284,12665801,12477932,11485546,9373149,8125298,7584044,12169628,11237770,10942595,18276590,16712798,16052210,15815621,15769472,15489334 9784 AK293252,AK293464,AK295278,AK297054,AK298620,AK298856,AK298869,AK300144,AK300641,AK316373,NM_014748,AC074117,AJ404855,CH471053,CQ834622,AK129689,AK222543,AK307122,AK308487,AK309640,BC002524,BC002610,BC014620,BC021108,BC032320,BC050590,BT007167,CR457081,CR593657,CR607260,CR612997,CR614181,CR615476,CR615965,CR616594,CR621161,D31764 BAG56784,BAG56959,BAG58262,BAG59579,BAG60799,BAG60979,BAG60989,BAG61930,BAG62330,BAH14744,NP_055563,AAY14844,CAC12897,EAX00584,EAX00585,EAX00586,CAH05526,BAD96263,AAH02524,AAH02610,AAH14620,AAH50590,AAP35831,CAG33362,BAA06542,Q15036 Hs.278569 KIAA0064 sorting nexin-17 protein-coding 1321231 SNX18 sorting nexin 18 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 14679214,18411244,17761170,16782399,15851553,15146197,14702039,12477932,12461558,11736640,11485546,19807924,20427313 112574 NM_001145427,NM_001102575,NM_052870,AC091888,CH471123,AF395536,AI335241,AI669182,AK022059,AK057122,AK304195,BC060791,BC067860,BC117218,BC117220,BJ990551,BJ990552,CD722181,CN360136,CN479485 NP_001138899,NP_001096045,NP_443102,EAW54894,AAK82415,BAG65075,AAH60791,AAH67860,AAI17219,AAI17221,Q96RF0 Hs.432755,Hs.606166 FLJ11997|FLJ32560|FLJ61062|MGC150827|MGC150829|SH3PX2|SH3PXD3B|SNAG1 SH3 and PX domain-containing protein 3B|sorting nexin associated golgi protein 1|sorting nexin-18|sorting nexin-associated Golgi protein 1 protein-coding 1604682 SNX19 sorting nexin 19 16273344,19023099,18073581,17975119,16344560,15146197,12477932,12461558,11564866,9039502,19752551,19730683 399979 NM_014758,AP000824,AP001093,CH471065,AF395843,AK292457,AK294731,AK295606,AK304809,AK308314,AK308628,AK309202,AK316414,AK316505,AL512699,BC031620,BU431333,BU623384,CB999595,CN307729,D87443,DB098024,DN990954 NP_055573,EAW67794,AAK73124,BAF85146,BAG57878,BAG58492,BAG65559,BAH14785,BAH14876,CAC21700,AAH31620,BAA13384,Q8IV55,Q92543,Q9H036 Hs.444024 CHET8|DKFZp667I205|KIAA0254 sorting nexin-19 protein-coding 1352467 SNX19P sorting nexin 19 pseudogene 378810 NG_006946,AL078475 SNX19P pseudo 3362733 SNX19P2 sorting nexin 19 pseudogene 2 400094 AL355516,NG_006945 KIAA0254 pseudo 3029010 SNX19P3 sorting nexin 19 pseudogene 3 646442 AP005058,NG_006944 pseudo 1321108 SNX2 sorting nexin 2 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with formin-binding protein 17, but its function is unknown. This protein may form oligomeric complexes with family members. [provided by RefSeq] 1580863 15673616,11278302,9819414,11279102,17319803,17101778,16964243,16179610,15690390,15546961,15489334,15302935,14978220,14702039,14596906,12477932,11485546,11438682,11102511,9373149,8125298 6643 NM_003100,AC008669,AC093267,CH471086,AF043453,AF065482,AK002170,AK023581,AK023716,AK222968,AK293671,AK296596,AY272044,BC003382,BT009841,CR617462 NP_003091,EAW48883,EAW48884,AAB99852,AAC17181,BAG51023,BAG51206,BAG51219,BAD96688,BAG57115,BAH12394,AAQ02693,AAH03382,AAP88843,O60749,Q53GG3,ABM81859,ABM85022 Hs.713554 MGC5204|TRG-9 OTTHUMP00000223063|sorting nexin-2|transformation-related gene 9 protein protein-coding 1604540 SNX20 sorting nexin 20 18196517,16782399,16189514,14702039,12477932,8586417,7835887,20018961,20379614 124460 NM_001144972,NM_182854,AC007608,CH471092,AA278249,AK055837,AK292650,AK292705,AY302441,BC027944,BC063423,BC119626,D20065,NM_153337 NP_699168,NP_001138444,NP_878274,EAW82763,BAF85339,BAF85394,AAP58362,AAH63423,AAI19627,Q7Z614,AAI68369 Hs.715778 MGC35578|SLIC-1|SLIC1 selectin ligand interactor cytoplasmic 1|selectin ligand interactor cytoplasmic-1|selectin ligand-interactor cytoplasmic 1|sorting nexin-20 protein-coding 1322486 SNX21 sorting nexin family member 21 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 16344560,14702039,12477932,12461558,12459172,11780052,11736640,11485546 90203 NM_001042633,NM_033421,NM_152897,NM_001042632,AL008726,CH471077,AF258570,AF395845,AF523834,AK091359,AK095851,AK226120,AK293443,AK297622,AL591562,BC012904,BC019823,BM925584,CR601928,CR617424,DA053179 NP_001036098,NP_219489,NP_690857,NP_001036097,CAI20242,CAI20243,CAI20244,CAI20245,CAI20246,EAW75799,EAW75800,EAW75801,AAG23773,AAK73126,AAM77915,BAC03646,BAC04637,BAG56946,BAG59998,CAC39140,AAH12904,AAH19823,Q05DJ0,Q5JZH3,Q5JZH5,Q5JZH7,Q8WUR6,Q8WY78,Q969T3 Hs.472854 C20orf161|MGC29895|PP3993|SNX-L|dJ337O18.4 OTTHUMP00000031179|OTTHUMP00000031181|chromosome 20 open reading frame 161|sorting nexin 21|sorting nexin L|sorting nexin-21 protein-coding 1312835 SNX22 sorting nexin 22 1580863 17400918,14702039,12477932,12461558,16189514 79856 NM_024798,AC100840,CH471082,CS185585,AK024014,AK126655,AL832838,AY044653,BC014660,BC019655,BC030225,BC036532 NP_079074,EAW77667,EAW77668,CAJ42766,BAB14776,BAC86630,AAK98767,AAH19655,AAH30225,Q6ZTF9,Q8N2U4,Q8WUS9,Q96L94 Hs.708268 FLJ13952 sorting nexin-22 protein-coding 1315725 SNX24 sorting nexin 24 1580863 15489334,14702039,12975309,12477932,12461558,17207965,16169070 28966 NM_014035,AC008669,AC022116,CH471086,AF139461,AK021473,AY044655,AY358098,BC010886,BC069012,BE673672,BQ278046,CR609766,DB498436 NP_054754,EAW48880,EAW48881,EAW48882,AAD32668,AAK98769,AAQ88465,AAH10886,AAH69012,Q9Y343,ADQ32520 Hs.483200 PRO1284|SBBI31 OTTHUMP00000223057|OTTHUMP00000223058|sorting nexin-24|sorting nexing 24 protein-coding 1320883 SNX25 sorting nexin 25 17081983,14702039,12477932,12461558 83891 NM_031953,AC073344,CH471056,AF113223,AK026814,AK095661,AW968034,AY044656,AY601647,BC029868,BM554003,BX508898 NP_114159,EAX04651,EAX04652,AAG39294,BAB15562,BAG53100,AAK98770,AAT98627,AAH29868,Q8N6K3,Q9H3E2,Q9H5Q8 Hs.369091 FLJ23161|MSTP043|SBBI31 OTTHUMP00000218288|sorting nexin-25 protein-coding 1318751 SNX26 sorting nexin 26 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The specific function of this protein has not been elucidated. Alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq] 1580863 20936779,16777849,18660489,15489334,15057824,14702039,12773384,12477932,12461558,12297274,11736640,11485546,11441184,17664338 115703 NM_052948,AC002398,AK096338,AK127255,AL137579,AY044864,BC014084,BC128586,CR625873,NM_001172630,HI574102 NP_443180,AAB81197,AAB81198,BAG53264,BAC86902,CAB70821,AAK97795,AAH14084,AAI28587,O14559,NP_001166101,CBX47540 Hs.515364 FLJ39019|NOMA-GAP|SNX26|TCGAP neurite outgrowth multiadaptor RhoGAP protein|rho GTPase-activating protein 33|rho-type GTPase-activating protein 33|sorting nexin 26|sorting nexin-26|tc10/CDC42 GTPase-activating protein protein-coding 1349647 SNX27 sorting nexin family member 27 This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq] 1580863 19555689,19615732,20379614,18690037,17828261,17577583,17351151,16710414,15466885,14702039,12477932,12461558,11485546,9455484,8889548,15121882,20733053 81609 AL391335,AL589765,CH471121,AB007957,AF060509,AJ009640,AK001395,AY044866,BC012184,BC051817,NM_030918,BC071825,BC100998,BC100999,BC101000,BC101822,BC101824,BC107862,BG472531,BM560557,BU676479,CB853160,AB054888,AB054889 NP_112180,CAH73501,CAH73502,CAH73503,CAI17164,CAI17165,CAI17169,EAW53423,EAW53424,EAW53425,EAW53426,EAW53427,EAW53428,BAE16986,AAG43127,AAK97797,AAH12184,AAH51817,AAH71825,AAI00999,AAI01000,AAI01001,AAI01823,AAI01825,AAI07863,Q96L92,BAD08219,BAD08220 Hs.192326 KIAA0488|MGC126871|MGC126873|MGC20471|MRT1|MY014 OTTHUMP00000015250|methamphetamine-responsive transcript 1|sorting nexin-27 protein-coding 1604256 SNX29 sorting nexin 29 16782399,14702039,12477932,10493829,8889548 92017 AL137333,BC013346,BC029857,BM692924,BX648908,AC007598,AC007601,AC010333,AC092365,AC131391,U95737,AK024473,AK074072,NM_001080530,CR618523 AAH29857,O75768,Q8TEQ0,Q9H7K6,AAI56064,AAI72456,NP_001073999,AAC31664,BAB15763,BAB84898 Hs.585745 A-388D4.1|FLJ00143 similar to riken cdna 4933437k13|sorting nexin-29 protein-coding 1345268 SNX3 sorting nexin 3 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. [provided by RefSeq] 1580863 17474147,17622474,9819414,11279102,18978678,18767904,17655765,17081983,16964243,15489334,14574404,12665801,12477932,12471201,11433298,18632802,16169070,15673616,20482551,20634891 8724 NM_003795,NM_152827,AL078596,CH471051,Z98742,AB047360,AF034546,AF062483,AK289476,AV704272,BC008444,BC014580,BC015179,BC016863,BG497532,BT007114,CR456898,CR595428,CR601831,CR606126,DB502691,NG_023278 NP_003786,NP_690040,CAI20817,CAI20818,CAI20819,EAW48378,EAW48379,EAW48380,EAW48381,EAW48382,EAW48383,EAW48384,CAI95646,CAI95647,CAI95648,BAB32649,AAC16040,AAC16018,BAF82165,AAH08444,AAH14580,AAH15179,AAH16863,AAP35778,CAG33179,O60493,ACE87416,ACE86730 Hs.12102 Grd19|MCOPS8|MGC17570|SDP3 sorting nexin 3A|sorting nexin-3 protein-coding 1601789 SNX30 sorting nexin family member 30 20583170,12477932,14702039 401548 NM_001012994,AL139041,AL360235,AL390067,CH878453,AA401207,AK091599,AK092908,AK126644,AK127013,AK128080,AK128710,AK129991,BC014914,BG699098,BX367137 NP_001013012,CAI95197,CAI95198,CAI41352,CAI41353,CAH71937,EAW50549,Q5VWJ9 Hs.522350 ATG24A|FLJ26481|FLJ34280|FLJ35589|FLJ44686|FLJ45069|FLJ46877 sorting nexin-30 protein-coding 1603261 SNX31 sorting nexin 31 12516573,12477932,20379614,16782399,14702039 169166 NM_152628,AP000424,AP001205,CH471060,AK093906,BC031260,BQ012274,CD106024 NP_689841,EAW91812,EAW91813,BAC04249,AAH31260,Q8N9S9 Hs.567758 MGC39715 sorting nexin-31 protein-coding 1605258 SNX32 sorting nexin 32 16782399,15203218,14702039,12477932,17207965 254122 NM_152760,AP001266,CH471076,AK055496,AK289587,AK293827,AK296055,AK299512,AK309435,AK309789,AL833261,BC040981,BC045563,CD638068 NP_689973,EAW74441,EAW74442,EAW74443,EAW74444,EAW74445,EAW74446,EAW74447,BAB70935,BAF82276,BAG57231,BAG58818,BAG61465,AAH40981,AAH45563,Q86XE0,ADQ33031 Hs.591950 DKFZp761P1320|FLJ30934|MGC42112|MGC57276|SNX6B sorting nexin 6B|sorting nexin-32|sorting nexin-6B protein-coding 1603528 SNX33 sorting nexin 33 18419754,18353773,16782399,16374509,15302935,14702039,12477932,19487689,19718658,19807924 257364 NM_153271,AC105020,CH471136,AK091291,AL833039,BC018775,EF219141,EF653821,CS416523 NP_695003,EAW99243,CAH56299,AAH18775,ABN09670,ABV26009,Q8WV41,ABM82621,ABM86137,ACE87094,ACE86418,CAL48182 Hs.8705 MGC32065|SH3PX3|SH3PXD3C|SNX30 SH3 and PX domain containing 3|SH3 and PX domain-containing protein 3|sh3 and px domain containing 3|sorting nexin-33 protein-coding 1320273 SNX4 sorting nexin 4 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. [provided by RefSeq] 1580863 11278302,9819414,11279102,17994011,17319803,15489334,14702039,12668730,12477932,16169070,19529763,20379614 8723 NM_003794,AC080096,AC117487,CH471052,AF065485,AF130078,AK001835,AK298972,BC018762,BI669801,CR596306,CR599850 NP_003785,EAW79390,EAW79391,EAW79392,EAW79393,AAC83149,AAG35504,BAG50982,BAG61066,AAH18762,O95219,Q9H398,ABM83057,ABM86251 Hs.507243 ATG24B sorting nexin-4 protein-coding 1320945 SNX5 sorting nexin 5 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein binds to fanconi anemia complementation group A protein, but its function is unknown. This gene results in two transcript variants encoding the same protein. [provided by RefSeq] 1580863 16857196,19204726,18596235,17148574,15561769,15489334,15133132,14702039,12477932,11780052,11485546,10600472,9373149,8125298,16169070,18854019 27131 NM_152227,NM_014426,AL121585,CH471133,AF121855,AK001793,AK026227,AK054634,AK123903,AK129505,AK223308,AK296947,AK308017,AL832967,BC000100,BC002724,BC062638,BC093623,BC093980,BC143274,BT007191,CR590760,CR591673,CR600241,CR601419,CR608822,CR610846,CR621801 NP_689413,NP_055241,CAC00471,CAI14858,CAI14859,EAX10263,EAX10264,EAX10265,EAX10266,EAX10267,EAX10268,AAD27828,BAA91914,BAG53980,BAD97028,BAH12462,AAH62638,AAH93623,AAH93980,AAI43275,AAP35855,Q53FH8,Q6P5V6,Q9Y5X3 Hs.316890 FLJ10931 OTTHUMP00000062929|sorting nexin-5 protein-coding 1312208 SNX6 sorting nexin 6 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq] 1580863 16713569,16730713,17043677,19935774,11278302,11279102,17148574,14702039,12477932,11591366,11485546,20354142 58533 NM_152233,NM_021249,AL445363,AL445883,CH471078,AF109364,AF121856,AK021456,AK124315,AK292250,AK296213,AK308464,BC001798,BG722853,BI870378,CR590030,CR593172,CR594308,CR604623,CR621895,CR623714,CR625969,U83194 NP_689419,NP_067072,EAW65913,EAW65914,EAW65915,EAW65916,EAW65917,EAW65918,AAQ13512,AAD27829,BAG51034,BAF84939,BAG58939,AAH01798,AAD24202,Q5QTQ6,Q9UNH7 Hs.356647 MGC3157|MSTP010|TFAF2 TRAF4-associated factor 2|sorting nexin-6|tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2 protein-coding 1313530 SNX7 sorting nexin 7 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its function is unknown. This gene results in two transcript variants encoding two distinct isoforms. [provided by RefSeq] 1580863 16189514,15489334,12477932,12461558,11485546,9373149,8125298,16130112,17474147,20203127 51375 NM_015976,NM_152238,AL627442,CH471097,AF121857,AK025031,AK223229,AK293018,AK298211,AL049989,BC010349,BC018105,BI856196,BT006747,CR597164,CR610212,AL548028,NR_033716 NP_057060,NP_689424,CAH72125,CAH72126,EAW72995,EAW72996,EAW72997,EAW72998,AAD27830,BAD96949,BAF85707,BAG60481,CAB43229,AAH10349,AAH18105,AAP35393,Q9UNH6,CAX14916 Hs.197015 DKFZp564F052|MGC8717 sorting nexin-7 protein-coding 1314037 SNX8 sorting nexin 8 1580863 17474147,15489334,12690205,12477932,12461558,11485546,19782049 29886 NM_013321,AC004971,CH236953,CH471144,AF121858,AK074544,AK315670,BC007785,BC021565,AL713633,BC014395 NP_037453,EAL23950,EAW87235,AAD27831,BAG38035,AAH07785,AAH21565,Q9Y5X2,ABM83434,ABM86648 Hs.584900,Hs.594383 DKFZp761E1721|Mvp1 sorting nexin-8 protein-coding 1353452 SNX9 sorting nexin 9 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but does contain a SH3 domain near its N-terminus. This protein interacts with the cytoplasmic domains of the precursor but not the processed forms of a disintegrin and metalloprotease domain 9 and 15. This protein binds the beta-appendage domain of adaptor protein 2 and may function to assist adaptor protein 2 in its role at the plasma membrane. This protein interacts with activated Cdc42-associated kinase-2 to regulate the degradation of epidermal growth factor receptor protein. [provided by RefSeq] 1580863 11799118,14679214,15231747,18940612,18682798,18388313,18065239,17948057,17609109,17242350,16903783,16585770,16316319,16137687,15703209,15489334,15299020,14702039,14574404,12952949,12477932,11879186,11485546,10531379,20491914,16374509,19807924,20129922,20379614,20088948 51429 AL035634,AL139330,AL391863,CH471051,AB209736,AF001629,AF076957,AF121859,AF131214,AF172847,NM_016224,AF190158,AJ420452,AJ420512,AK026637,AK127345,AK314360,BC001084,BC005022,BG766499,CR624899 NP_057308,CAI20465,CAI12979,CAI15180,EAW47668,EAW47669,BAD92973,AAD00898,AAD43001,AAD27832,AAF04473,AAL54871,AAQ13702,BAG54490,BAG36992,AAH01084,AAH05022,O95061,Q59ES5,Q7Z4B8,Q9Y5X1,ABM84226,ABM87788 Hs.191213 MST155|MSTP155|SDP1|SH3PX1|SH3PXD3A|WISP SH3 and PX domain-containing protein 1|SH3 and PX domain-containing protein 3A|SH3 and PX domain-containing protein SH3PX1|Wiskott-Aldrich syndrome protein (WASP) interactor protein|sorting nexin-9 protein-coding 731038 SOAT1 sterol O-acyltransferase 1 Acyl-coenzyme A:cholesterol acyltransferase (ACACT; EC 2.3.1.26) is an intracellular protein located in the endoplasmic reticulum that forms cholesterol esters from cholesterol. Accumulation of cholesterol esters as cytoplasmic lipid droplets within macrophages and smooth muscle cells is a characteristic feature of the early stages of atherosclerotic plaques (Cadigan et al., 1988 [PubMed 3335499]).[supplied by OMIM] 1580863,1300048,730139 19913121,20628086,10438503,16647063,15308631,8407899,11401500,9756919,15353128,18971559,17412327,18269457,17622762,17593314,16763159,16474185,16230498,16154994,16043284,16013913,15992359,15850387,15768051,15489334,15319423,15253151,15219857,14729857,12851640,12533546,12477932,11483630,11353332,10623671,10196189,9756920,8197480,3335499,19502590,20031551 730139 6646 NM_003101,AL355806,AL451075,AL512326,CH471067,AK026611,AK290659,AK294047,AK300551,AK310920,AK316401,AL833625,BC028940,CR597057,L21934 NP_003092,CAI12675,CAI12676,CAI13573,CAI13574,EAW91043,EAW91044,BAF83348,BAG57399,BAG62257,BAH14772,AAH28940,AAC37532,P35610,ABM82733,ABM85917 Hs.496383 ACACT|ACAT|ACAT1|RP11-215I23.2|SOAT|STAT ACAT-1|acyl-Coenzyme A: cholesterol acyltransferase|acyl-coenzyme A:cholesterol acyltransferase 1|cholesterol acyltransferase 1|sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1|sterol O-acyltransferase 1 protein-coding 730963 SOAT2 sterol O-acyltransferase 2 Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq] 1581189,1581190,1581191,625687,1580863,1556516,1625282,1601112,1581921,730139 16647063,9756920,14615411,15308631,11401500,15451793,18676680,17303779,16331323,16274362,16230498,15992359,15961790,14729857,12808042,12621162,12477932,11325614,11294643,11071899,11042153,10846185,9756919,9242919,8650549,15782160,19170196,19625176,19692168,19878569,19913121,20628086 1581189,1581190,1581191,625687,1556516,1625282,1601112,1581921,730139 8435 NM_003578,AC073573,AF331516,AF332857,AF332858,CH471054,AF059203,AF099031,BC096090,BC096091,BC096092,BC099626 NP_003569,AAK18275,AAK48829,EAW96665,AAC63998,AAC78335,AAH96090,AAH96091,AAH96092,AAH99626,O75908,Q4VBA1 Hs.656544 ACACT2|ACAT2|ARGP2|MGC116732 ACAT-2|acyl Co-A: cholesterol acyltransferase 2|acyl coenzyme A:cholesterol acyltransferase 2|acyl-CoA:cholesterol acyltransferase 2|acyl-coenzyme A:cholesterol acyltransferase 2|cholesterol acyltransferase 2|sterol O-acyltransferase 2 protein-coding 1605982 SOBP sine oculis binding protein homolog (Drosophila) 20379614,12477932,14702039,8889548,16169070,21035105 55084 NM_018013,AL096816,AL121957,AL671934,CH471051,AK090879,BC014859,BC091526,BC113966,BM684094,BX442875,DQ507800 NP_060483,CAQ08124,CAQ10380,CAQ10205,EAW48397,EAW48398,EAW48399,BAC03537,AAH91526,AAI13967,ABF72848,A7XYQ1,Q24K27 Hs.445244 FLJ10159|JXC1|MRAMS jackson circler protein 1|sine oculis-binding protein homolog protein-coding 1347441 SOCS1 suppressor of cytokine signaling 1 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq] 1580863,2298920,2298909,2298918,2298903,2298906,2298907,2298899,2298924,634751,2290486,2298904,1625677,2298923,1625125 16082380,15850793,15688010,15589317,15545275,15522878,15456882,15386345,15373779,15361843,15240148,15235874,15198092,15197228,15169905,15166476,15121754,15074307,15021916,14976049,14762685,14634100,14630083,14614901,14614012,14522994,12900355,12865927,12759928,12601549,12485838,12477932,12470648,12456503,12228220,12163560,12163497,12080466,12077274,12076535,12070153,11971965,11907070,11889171,11854514,11835308,11696536,11553846,11445538,11384984,11297560,11208867,11133764,10585430,10517496,10512686,10490100,9727029,9202125,9202126,19419769,19342366,19327355,19287004,19240061,19215277,19164812,19047140,19017994,18987746,18971287,18820827,18815196,18801363,18725457,18656467,18639978,18556463,18551144,18538318,18440067,18355908,18250407,18203295,18172216,18035697,17888401,17867599,17652621,17589943,17438093,17315216,17264307,17230231,17099141,17001312,16984412,16943387,16815301,16628196,16532038,16498413,16432158,16421738,16415872,16410555,16407264,16287070,9344848,11342531,19000444,17083795,20648401,20299783,20423643,10064597,10051596,10022833,9341160,9266833,7796808,16429138,17898043,11713228,10455112,20433750,20596075,20689596,19913121,20145416,20406299,20588308,20628086,20724312,14690596,14968112,17183367,18199397,19135225,19423540,19482358,19515423,19542368,19543316,19551406,19561639,19592492,19595407,19617348,19622834,19727727,19734231,19734449,19846529,19915063,20005840,20064913,20164024,20190752,20331378,20354188,20395963,20398276,20406964,20438785,20538233,20372794,20934424,20883163,20622265 2298920,2298909,2298918,2298903,2298906,2298907,2298899,2298924,634751,2290486,2298904,1625677,2298923,1625125 8651 NM_003745,AC009121,AF132440,CH471112,DQ086801,Z46940,AB000676,AB000734,AB005043,AK127621,BC029307,U88326,FB571467,HI573982 NP_003736,AAD27709,EAW85163,AAY87931,CAB92528,BAA21537,BAA23521,BAA22431,BAG54535,AAB62401,O15524,Q4JHT5,AAI48543,AAI53089,CAR95151,CBX47480 Hs.50640 CIS1|CISH1|JAB|SOCS-1|SSI-1|SSI1|TIP3 JAK binding protein|JAK-binding protein|STAT induced SH3 protein 1|STAT-induced STAT inhibitor 1|TIP-3|Tec-interacting protein 3|cytokine-inducible SH2 protein 1|suppressor of cytokine signaling 1 2315775 GLUCO145_H protein-coding 1352815 SOCS2 suppressor of cytokine signaling 2 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10 and interferon (IFN)-gamma. The protein encoded by this gene is found to interact with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R), and thus is thought to be involved in the regulation of IGF1R mediated cell signaling. Knockout studies in mice also suggested a regulatory role of this gene in IGF-1 related growth control. [provided by RefSeq] 1580863,2298924,2298909,2298902,2298907,2298926,2298928,2298925 9266833,9344848,12135564,9727029,11781573,12552091,19279332,19266077,19258923,18820827,18769447,18391952,18391951,17703412,17666591,17651480,17325857,17264307,17008382,16684815,16675548,16406727,16199887,16189514,16097082,15489334,15361843,12477932,12076535,11889171,11861294,11835308,11034314,10890450,10585430,10512686,10455112,10453981,9202403,15644415,17898043,18844680,19159283,19423540,19779605,20136974,20237496,20406964,20438785,20503287,20802378,21048031,19913121,20546612,20628086,20543098 2298924,2298909,2298902,2298907,2298926,2298928,2298925 8835 NM_003877,AC012085,AF132441,CH471054,AB004903,AB006966,AB451318,AF020590,AF037989,AK290546,AK297662,AK309452,AK313165,AL522912,BC010399,BC070039,CR595909 NP_003868,AAD27710,EAW97492,EAW97493,BAA22429,BAA22536,BAG70132,AAC98896,AAC34745,BAF83235,BAG60027,BAG35983,AAH10399,O14508 Hs.485572 CIS2|Cish2|SOCS-2|SSI-2|SSI2|STATI2 CIS-2|STAT induced STAT inhibitor-2|STAT-induced STAT inhibitor 2|STAT-induced STAT inhibitor-2|cytokine-inducible SH2 protein 2|suppressor of cytokine signaling 2|suppressor of cytokine signaling-2 protein-coding 1352978 SOCS2P1 suppressor of cytokine signaling 2 pseudogene 1 276719 NG_002411,AL121901 pseudo 1349432 SOCS2P2 suppressor of cytokine signaling 2 pseudogene 2 9074928 266701 NG_000002,D87000 pseudo 730833 SOCS3 suppressor of cytokine signaling 3 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq] 1580863,1357935,2313788,2313787,2313790,2298909,2298924,2298920,2298901,2313789,634751,2298899,2298923,2298904,1625125,1625684,1625677,625688,1625683,1625676,632385,1625688,730264 20478455,20504769,20631305,20484656,20433750,17083795,16407264,20689596,12560330,12477932,12459551,12403768,12351404,12228220,12198248,12182826,12163560,12133942,12076535,12070153,12027890,11970967,11889171,11867182,11786421,11727828,11713228,11481489,11331873,11279517,11076863,11071852,11034314,11018044,10946280,10882725,10837055,10585430,10490101,10421843,10051596,9344848,9266833,19258923,19225535,19164812,19129540,19115200,19083014,19077438,19052638,19036437,19027008,18989459,18986700,18971287,18952062,18941624,18820827,18815196,18770864,18752121,18687693,18660489,18656467,18636124,18571793,18538318,18507841,18440067,18250407,18240972,18097573,18055217,18045952,17935223,17895321,17881539,17703412,17668875,17636039,17589943,17530721,17445271,17438093,17374732,17363902,17325857,17297444,17273770,17264307,17241887,17148681,17138568,17001312,16943387,16920065,16914720,16831601,16822822,16805839,16709613,16685656,16568091,16543409,16381901,16410555,16402267,16374465,16344560,16210657,16055089,16007195,16007169,15939448,15629435,15618960,15607366,15589317,15489336,15489334,15385932,15361843,15331532,15308667,15300962,15249995,15240148,15217536,15163721,15070676,14617776,14559241,12847520,12783885,12688541,12654831,12626585,12565872,16169070,20067961,20231901,20351777,20155426,20335309,20588308,20690084,10373548,10707961,15213237,15514089,16199887,17605868,18199397,18414649,18549612,19229050,19231005,19423540,19524687,19543316,19592492,19595407,19617629,19634073,19643162,19737863,19803812,19913854,19951849,20005910,20130595,20136974,20237496,20375166,20398276,20406964,20438785,20468064,20503287,20372794,20934424 1357935,2313788,2313787,2313790,2298909,2298924,2298920,2298901,2313789,634751,2298899,2298923,2298904,1625125,1625684,1625677,625688,1625683,1625676,632385,1625688,730264 9021 NM_003955,AC061992,CH471099,AB004904,AB006967,AF159854,AK309756,AK314212,AU134017,BC060858,BE245649,BT019544,CR536497,CR541694,CR602820,NG_016851 NP_003946,EAW89521,EAW89522,BAA22430,BAA22537,AAD42231,BAG36886,AAH60858,AAV38351,CAG38736,CAG46495,O14543,Q5U0H7,Q6FI39,CAL37774,CAL38024,CAL38368 Hs.527973 ATOD4|CIS3|Cish3|MGC71791|SOCS-3|SSI-3|SSI3 CIS-3|STAT-induced STAT inhibitor 3|cytokine-induced SH2 protein 3|cytokine-inducible SH2 protein 3|suppressor of cytokine signaling 3 protein-coding 1315155 SOCS4 suppressor of cytokine signaling 4 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1357941,1580863,2303397 12477932,12076535,10500304,17207965,17997974,15590694,15489334,14702039,19423540,20406964,20438785,20486857,20433750 1357941,2303397 122809 NM_199421,NM_080867,AL139316,AL160471,AL352982,CH471061,AF424815,AK056685,AK124083,AK126195,AK127299,BC060790,BX161418,BX648734,CD109883,CR933659 ADQ32995,NP_955453,NP_543143,EAW80655,AAL60517,BAG54001,AAH60790,CAD61893,CAI45958,Q5H9R6,Q8WXH5 Hs.727735 DKFZp686J1568|SOCS7 SH2 domain containing SOCS box protein|SOCS-4|SOCS-7|suppressor of cytokine signaling 4|suppressor of cytokine signaling 7 protein-coding 1346055 SOCS5 suppressor of cytokine signaling 5 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq] 1580863,1357941 11837794,10773671,16210657,15590694,15489334,14707129,12477932,12242343,12076535,11835308,11553846,11230166,9734811,9419338,14968112,15695332,20802378,21048031 1357941 9655 NM_144949,AC020604,CH471053,AB014571,AF073958,AI433294,AK290194,AL136896,BC032862,NM_014011 NP_054730,NP_659198,AAY24289,EAX00235,EAX00236,EAX00237,BAA31646,AAD40484,BAF82883,CAB66830,AAH32862,O75159,Q53SD4,ABM82139,ABM85322 Hs.468426 CIS6|CISH6|Cish5|KIAA0671|SOCS-5 CIS-6|cytokine-inducible SH2 protein 6|cytokine-inducible SH2-containing protein 5|suppressor of cytokine signaling 5 protein-coding 1312180 SOCS6 suppressor of cytokine signaling 6 The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq] 1580863,1357941,1625125 9344848,18204098,17603019,17210122,16643902,15761153,14707129,14702039,12477932,12076535,12052866,11342531,11042152,19913121,20628086,21048031,19646809,19716864,20007709,20379614 1357941,1625125 9306 NM_004232,CH471117,AB006968,AF161545,AK024356,BC020082,CR601456,AC023395 NP_004223,EAW66522,EAW66523,EAW66524,BAA22538,AAF29032,AAH20082,O14544,Q9NZX6 Hs.44439 CIS4|HSPC060|SOCS4|SSI4|STAI4|STATI4 CIS-4|SOCS-4|SOCS-6|STAT induced STAT inhibitor-4|cytokine-inducible SH2 protein 4|suppressor of cytokine signaling 4|suppressor of cytokine signaling 6 protein-coding 1317076 SOCS7 suppressor of cytokine signaling 7 1357941,1625125,1580863 20357037,20433750,9344857,17803907,16625196,16127460,15677474,15489334,15242778,14702039,14644140,14607831,12477932,12076535,12052866,11837794,10969179,9419338 1357941,1625125 30837 XR_108268,XR_109377,XR_111698,XR_115094,NM_014598,AC115992,AC124789,AC183084,CH471152,AA233668,AB005216,AI223248,AK094338,AW613025,BC121030,BC121031,BC128607 NP_055413,EAW60512,BAA22432,AAI28608,O14512,AAI67822 Hs.514132,Hs.632261 NAP4|NCKAP4 NAP-4|NCK-associated protein 4|Nck, Ash and phospholipase C binding protein|SOCS-7|nck, Ash and phospholipase C gamma-binding protein|suppressor of cytokine signaling 7 protein-coding 730855 SOD1 superoxide dismutase 1, soluble The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq] 737689,2312361,2312367,2303613,2312364,2312362,2312363,2312365,2312366,1580846,1600704,1600708,1581192,1581207,1581213,1581214,1581216,1581220,1581221,1581222,1581223,1581228,1581229,1581230,1581232,1580863,1580834,1300048,1581209,1580833,2317410 19913121,20108167,20399857,20485444,20498711,20577002,20602615,20628086,20664914,20801718,17453634,17453632,17420412,17418947,17394531,17368952,17328801,17299743,17292357,17272778,17257622,17255946,17171548,17166276,17164329,17157513,17157186,17097745,17092942,17065353,17056476,17038899,17005595,16989689,16973244,16963403,16952453,16945901,16943203,16920710,16903849,16895791,16880213,16877401,16868544,16857362,16847061,16798882,16780879,16758302,16741123,16730180,16716900,16674979,16644738,16636275,16600249,16584877,16583143,16567804,16540901,17457363,16525202,15485869,15475574,15474511,15465081,15379995,15358145,15350647,15338334,15326189,15304256,15295091,15288122,15263088,15258228,15233914,15223614,15193434,15166009,15123612,15109247,15068249,15050437,15050430,15016076,15006704,14988262,14981234,14978393,14970233,14759637,14734542,14718574,14711010,14690536,14684739,14596848,14578853,14568129,14526083,14506936,13129804,13129803,12972170,12963370,12963085,12921788,12871577,16467073,16435343,16424062,16423367,16407238,16406071,16291929,16291742,16191429,16132821,16105836,16094314,16084730,16046141,16046140,16036425,16020530,16000635,16000321,15990193,15961078,15952740,15909112,15870505,15851752,15829914,15829169,15816858,15812313,15799963,15789135,15758154,15755678,15753080,15743779,15691826,15672551,15634772,15629867,15623718,15579468,15576639,15546588,15531919,15522970,15507437,15489334,15488469,12815046,12787913,12783432,12774661,12754496,12753090,12738898,12732844,12729761,12718436,12710516,12710511,12686560,12665801,12661766,12659845,12649272,12644909,12626552,12606529,12597246,12590575,12573532,12531528,12502789,12480087,12477932,12475980,12458194,12447480,12442272,12441104,6577438,6316150,6096825,3889846,3680284,3160582,2853161,1463506,1332049,752535,16871233,14975589,15869407,16792821,15879701,15223067,17666395,16009131,11115513,7002610,6770891,20851292,20877624,20931825,19363716,19488901,20075587,20184519,20184521,20226522,20406884,20644736,20682279,20808835,20953194,20872977,21179281,17463094,12818209,12437574,7496169,20176600,9726962,17008312,10837872,17324120,15544046,17381088,15377661,12871978,10920331,9539776,15473258,12485882,16790527,16716898,16254550,11527942,17077646,17504823,9699963,7172448,9453566,19596401,19576169,19505917,19497878,19459941,19429011,19423540,19423521,19416874,19379791,19369197,19344917,19335999,19332692,19325915,19299510,19293633,19266020,19259395,19252762,19233858,19228676,19227972,19201909,19196430,19191304,19187267,19176896,19174508,19156168,19139308,19124506,19109932,19091790,19091752,19088126,19077113,19060114,19041781,19022905,19016244,19011015,19000626,18971355,18951903,18930811,18840448,18826962,18808763,18806750,18790046,18775420,18761352,18715867,18703498,18690666,18683239,18676680,18666828,18652897,18636124,18624915,18622615,18617166,18608106,18608091,18596033,18586551,18582155,18579581,18574763,18559949,18552350,18515363,18504130,18485920,18480265,18469020,18428003,18424447,18423055,18415766,18393442,18387669,18384644,18337461,18334481,18319614,18316367,18307039,18305395,18301754,18282652,18273717,18268245,18246065,18243716,18239850,18233996,18211954,18192269,18191946,18081837,18057069,18055113,18054242,18033592,18006498,17992192,17987632,17979159,17925878,17914031,17903209,17902702,17888947,17823119,17786603,17725983,17715066,17689501,17683925,17683122,17667843,17664146,17652584,17646272,17636481,17636250,17636119,17634480,17624778,17602442,17592131,17573040,17555556,17549529,17549011,17548825,17513298,17512922,17483589,17469116,12402272,12393885,12356748,12270693,12218958,12215228,12213295,12210393,12145308,12144846,12138710,12127151,12126755,12099681,12050154,12039658,11996514,11951178,11930144,11912919,11854285,11854284,11771762,11756571,11675874,11561030,11535232,11513882,11457725,11369193,11350569,11220750,11006081,10889018,10830953,10809943,10735277,10732812,10677207,10439968,10430435,10400992,10329151,9817920,9718300,9541385,9455977,9131652,9101297,8990014,8938700,8909456,8907321,8900247,8682505,8592323,8528216,8446170,8351519,8332197,8298637,8179602,8105280,8069312,8004110,7997024,7980516,7951252,7951249,7911198,7887412,7881433,7870076,7836951,7795609,7755363,7700376,7655471,7655469,7655468,7647793,7643359,7501156,19953340,20127819,20189984,20460269,20553075,20553085,20595380,20838240,20570967,20616033,20682985,14630798,16079151,16369483,18029348,18651250,18712292,18809582,19016906,19064571,19170196,19268528,19399611,19399816,19409565,19442735,19477268,19478559,19482907,19483195,19515016,19524271,19527700,19560448,19625176,19635794,19651777,19654524,19655787,19656261,19660548,19661182,19672969,19685188,19692168,19703565,19705749,19714405,19726402,19741096,19751676,19779023,19787204,19800308,19805546,19805550,19818514,19828437,19845829,19878539,19895330,19902052,19910193,19917371,19922144,19922450,19965850,20011081,20023586,20056743,20084016,20094844,20097285,20097856,20105444,20151445,20184893,20191117,20201926,20202083,20237496,20303959,20346360,20362497,20385105,20406964,20410108,20416077,20438785,20460594,20472325,20477822,6457647,15198682,20177826,20221404,20223753,20514411,20797535 737689,2312361,2312367,2303613,2312364,2312362,2312363,2312365,1580846,1600704,1600708,1581192,1581207,1581213,1581214,1581216,1581220,1581221,1581222,1581223,1581228,1581229,1581230,1581232,1580834,1581209,1580833,2317410 6647 AY049787,AY450286,BC001034,BT006676,CA448539,CR450355,CR541742,CR594020,CR600386,CR613850,CR621637,CR624343,EF151142,W17182,X02317,NG_008689,AP000253,AP000254,AY835629,CH471079,L44139,L44746,L46374,L46375,X01780,X01781,X01782,X01783,X01784,X95228,AK312116,AV756797,NM_000454,HH772807 AAL15444,AAR21563,AAH01034,AAP35322,CAG29351,CAG46542,ABL96616,CAA26182,P00441,NP_000445,AAV80422,EAX09889,EAX09890,AAB05661,AAB05662,AAC41773,AAB59626,AAB59627,CAA25915,CAA25916,CAA25917,CAA25918,CAA25919,CAA64520,BAG35052,CBX86766 Hs.443914 ALS|ALS1|IPOA|SOD|homodimer Cu/Zn superoxide dismutase|SOD, soluble|indophenoloxidase A|superoxide dismutase|superoxide dismutase [Cu-Zn]|superoxide dismutase, cystolic protein-coding 730872 SOD2 superoxide dismutase 2, mitochondrial This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1581148,1581214,1581220,1581222,1581231,1581233,1581234,1581235,1581236,1581237,1581238,1581239,1581240,1581241,1581242,1581243,1581244,1581245,1581246,1581247,1581248,1581249,1581250,1581251,1581252,1581253,1581254,1581255,1581256,1581257,1581258,1581259,1581260,1581262,1580840,1580863,2312364,1580836,1580837,1580838,1579972,1625694,1625699,1582141,1625695,1580833,2317411,2317382,2317410,2317403,2317406 19913121,20301895,20485444,20567899,20598694,20627099,20628086,20643115,20644561,20673159,20712757,20728955,20802415,12590982,12551919,12540612,12517793,12477932,12469139,12447859,12239572,12161520,12127599,12126755,12078513,12063011,12032830,11977425,11912930,11912921,11853549,11849743,11837748,11836586,11756571,11721640,11719088,11580280,11481695,11350569,11323405,11299047,11124296,11076863,10852710,10748080,10425186,10393559,9882443,9537988,9537987,9484232,9462746,9150946,9110146,8889548,8806673,8633092,8605177,8395050,7895732,7859743,7702755,7498159,12592389,7493016,6386798,3684581,3399391,2831093,2738919,2462451,1988135,1699607,1427917,1394426,752518,14975589,16792821,15879701,15223067,16169070,20107204,20137347,20734807,20851292,20877624,20878976,20931825,20966810,21052528,21053180,21056286,21062213,21072184,19955594,20417703,20690800,20226522,20833513,20872977,17353931,14980699,17251466,16179351,9393747,19528373,19526139,19505917,19493484,19474327,19428448,19423521,19420105,19405048,19385967,19368118,19339270,19339246,19336475,19306099,19302750,19265433,19262996,19254215,19242068,19219857,19213780,19167605,19157724,19156168,19151739,19124506,19100713,19074885,19074884,19074833,19064542,19016244,19012493,18989629,18987137,18977241,18977034,18930811,18930810,18845242,18834346,18829510,18829485,18790709,18784358,18784066,18775420,18760346,18720901,18689799,18683149,18682580,18676870,18676680,18653258,18646267,18636124,18582155,18573360,18571701,18569577,18553161,18490963,18469277,18466086,18460737,18434620,18423055,18413745,18396798,18387669,18373354,18327668,18305395,18296681,18291700,18258609,18247479,18205184,18180754,18167310,18167182,18095014,18057537,18044968,18023606,17974967,17967822,17965603,17936883,17922231,17879532,17822322,17719580,17693525,17653087,17652337,17646272,17634480,17628794,17617122,17616699,17601350,17588204,17582511,17577737,17575500,17567676,17548864,17548672,17491681,17473980,17465268,17459574,17453961,17449559,17409931,17400324,17376152,17340208,17336594,17331249,17299970,17299255,17296902,17293864,17291655,17290392,17277236,17217237,17211829,17192491,17188257,17186424,17171548,17149600,17145829,17142144,17085785,17055157,17018785,17005595,16969494,16966488,16966185,16956909,16956821,16945136,16933053,16868544,16859522,16847469,16819819,16807759,16780879,16780268,16769586,16740634,16630148,16626843,16543247,16540901,16538174,16510607,16485861,16475114,16467073,16458347,16424062,16423340,16381901,16369462,16324912,16281056,16215873,16206227,16170370,16166634,16157826,16148556,16107721,16084535,16076760,16047490,16006997,15952740,15951095,15933380,15923250,15908783,15894290,15887859,15883815,15878096,15869407,15838728,15817612,15809720,15781667,15774926,15767364,15765450,15743756,15734485,15734083,15706661,15705913,15701646,15673194,15621215,15610954,15598343,15591282,15589819,15581626,15535847,15534883,15512801,15512788,15489336,15489334,15455371,15386537,15345661,15338334,15337840,15331175,15330761,15308628,15266664,15247771,15217492,15213518,15196853,15184255,15168344,15166009,15131792,15094225,15088300,15087454,15075214,14744747,14729580,14704872,14702039,14688256,14687717,14643949,14638684,14611903,14578853,14574404,14515147,14503839,12963120,12960753,12948282,12946273,12880680,12829021,12815947,12732398,12711112,12700280,12684509,12683635,12673575,12644569,12627943,12624725,20578157,20206302,20514411,10511315,123234,18583979,18821846,18930813,18996183,19064571,19170196,19228881,19293328,19376215,19423540,19451660,19467856,19509150,19521720,19533864,19538885,19558795,19622717,19623544,19625176,19628492,19628738,19636420,19641337,19647296,19666009,19692168,19696404,19706356,19712751,19715479,19731237,19752172,19753309,19754948,19755112,19756960,19778569,19787204,19789190,19834686,19847642,19863340,19880028,19896490,19900038,19902052,19917371,19929244,19946932,19948975,19958503,20003469,20012093,20041472,20043000,20052533,20056743,20061391,20082261,20082738,20082851,20086011,20089851,20097730,20109103,20139358,20144705,20150532,20170971,20204285,20204772,20206073,20214802,20237496,20309628,20346360,20346996,20357718,20378690,20406964,20416077,20437850,20438785,20441054,20444272,20459474,20461808,20477822,20478627,20501330,20534900,20536280,20233853,20538313,20649542,20863520,20143154 1581148,1581214,1581220,1581222,1581231,1581233,1581234,1581235,1581236,1581237,1581238,1581239,1581240,1581241,1581242,1581243,1581244,1581245,1581246,1581247,1581248,1581249,1581250,1581251,1581252,1581253,1581254,1581255,1581256,1581257,1581258,1581260,1581262,1580840,2312364,1580836,1580837,1580838,1579972,1625694,1625699,1582141,1625695,1580833,2317382,2317410,2317403,2317406 6648 AK097395,AK296809,AK304766,AK313082,AL050388,AL691784,AY280718,AY280719,AY280720,AY280721,BC001980,BC012423,BC016934,BC035422,BG699596,BM994509,BT006967,BU164685,BU741675,CR626136,DQ003134,M36693,X07834,X14322,X15132,X59445,Y00472,Y00985,NM_001024465,NM_000636,NG_008729,AL135914,AY267901,CH471051,D83493,L34157,S77127,X65965,NM_001024466 BAG59382,BAG65521,BAG35908,CAB62521,AAP34407,AAP34408,AAP34409,AAP34410,AAH12423,AAH16934,AAP35613,AAY21807,AAA36622,CAA30687,CAA32502,CAA33228,CAA42066,CAA68533,CAA68791,P04179,Q4ZJI1,Q5TCM0,Q6LE88,Q6LEN1,Q7Z7M4,Q7Z7M5,Q7Z7M6,Q7Z7M7,Q96AM7,Q9UG59,CAL37714,ABM92204,ABM84678,NP_001019637,NP_001019636,NP_000627,CAI21845,CAI21846,AAP03428,EAW47629,EAW47630,EAW47631,BAA18955,AAA83933,AAD14248 Hs.487046 IPO-B|IPOB|MNSOD|MVCD6|Mn-SOD Mn superoxide dismutase|indophenoloxidase B|manganese-containing superoxide dismutase|mangano-superoxide dismutase|superoxide dismutase [Mn], mitochondrial protein-coding 736515 SOD3 superoxide dismutase 3, extracellular This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the dismutation of two superoxide radicals into hydrogen peroxide and oxygen. The product of this gene is thought to protect the brain, lungs, and other tissues from oxidative stress. The protein is secreted into the extracellular space and forms a glycosylated homotetramer that is anchored to the extracellular matrix (ECM) and cell surfaces through an interaction with heparan sulfate proteoglycan and collagen. A fraction of the protein is cleaved near the C-terminus before secretion to generate circulating tetramers that do not interact with the ECM. [provided by RefSeq] 1581225,1581230,1581232,1581254,1581264,1581265,1581266,1581268,1581270,1581277,1581298,1581299,1580842,2312361,1580852,1580841,1580853,1581095,1625698,1580863,1579965,1580843,1580845 19913121,20079429,20485444,20628086,20673035,20673868,14975589,8034674,19526392,19505917,19423521,19390575,19318538,19289127,19242068,19213780,19200140,19108943,19016244,18977241,18971527,18948423,18726685,18720901,18703790,18682580,18676680,18599502,18385137,18314536,18165226,17937792,17717013,17679946,17646272,17601350,17296902,17070542,17023265,16899934,16842247,16809550,16611809,16540901,16469315,16467073,16399992,16344560,16335952,16100289,16014615,15990193,15899505,15761197,15528465,15489334,15166009,15044467,14736885,14704872,14662715,14619883,14592844,12830380,12815947,12663605,12477932,12475988,12126755,12052468,11861638,11299047,10329680,8889548,8864862,8694786,8546689,7959763,7662997,6541229,3476950,2276747,2106874,1505778,1477980,15869407,16792821,15879701,15223067,20600835,20226522,20514411,20576801,20800603,20966810,19170196,19423540,19488773,19495415,19533864,19625176,19636420,19692168,19705749,19789190,19811392,19933216,19948975,20237496,20406964,20438785,20452482,20477822 1581225,1581230,1581232,1581254,1581264,1581265,1581266,1581268,1581270,1581277,1581298,1581299,1580842,2312361,1580852,1580841,1580853,1581095,1625698,1579965,1580843,1580845 6649 NG_012213,AC006390,AY787834,CH471069,S71544,U10116,AK313935,BC014418,BI757365,BM677660,CR541853,CR592129,CR595031,CR597150,CR606896,CR607978,NM_003102,CR608025,CR618426,CR622278,CR625060,DA668533,J02947 NP_003093,AAV40827,EAW92823,AAB31336,AAA62278,BAG36654,AAH14418,CAG46651,AAA66000,P08294,Q16867,ABM83012,ABM86206 Hs.2420 EC-SOD|MGC20077 extracellular superoxide dismutase|extracellular superoxide dismutase [Cu-Zn]|superoxide dismutase 3 protein-coding 1605184 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 16690745,16344560,12477932,20506135 402381 NM_001012415,NM_001101677,AL158822,CH471090,AY884306,AY902244,BC031861,DB307692,DB339952,EB710265 NP_001012415,NP_001095147,CAI39241,EAW88174,EAW88175,EAW88176,AAW78548,AAW82617,AAH31861,Q5JUK2 Hs.120464 C9orf157|NOHLH|TEB2|bA100C15.3|bHLHe80 newborn ovary helix loop helix|spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 protein-coding 1603036 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 16344560,16189514,14702039,12477932,19834535 54937 AI368806,AK000456,AY884305,BC025383,DB022954,NM_017826,AL160392,CH471075 EAX08554,EAX08555,EAX08556,BAA91175,AAW78547,AAH25383,Q9NX45,EAX08552,NP_060296,CAC42466 Hs.124519 FLJ20449|FLJ57222|TEB1|bHLHe81 OTTHUMP00000018247|OTTHUMP00000221747|spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 protein-coding 1315174 SOLH small optic lobes homolog (Drosophila) This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq] 1580863 9722942,15489334,12477932,11157797,11076863,10524757,8640222 6650 NM_005632,AE006464,CH471112,Z97986,BC001869,BC011939,BC021854,BC032648,BC040169,BC044259,BC112918,BX341589,U69557,U85647 NP_005623,AAK61233,EAW85803,CAC14067,AAH01869,AAH21854,AAI12919,AAC33822,O75808,AAI11933,AAI18502 Hs.632219 CAPN15|MGC131491 calpain-15 protein-coding 1319118 SON SON DNA binding protein The protein encoded by this gene binds to a specific DNA sequence upstream of the upstream regulatory sequence of the core promoter and second enhancer of human hepatitis B virus (HBV). Through this binding, it represses HBV core promoter activity, transcription of HBV genes, and production of HBV virions. The protein shows sequence similarities with other DNA-binding structural proteins such as gallin, oncoproteins of the MYC family, and the oncoprotein MOS. It may also be involved in protecting cells from apoptosis and in pre-mRNA splicing. Several transcript variants encoding different isoforms have been described for this gene, but the full-length nature of only two of them has been determined. [provided by RefSeq] 1580863 10950926,10830953,8031013,17353931,10509013,18952841,17081983,16964243,16916647,16565220,15324660,15302935,15231748,14759258,14702039,14637006,12477932,11782456,11707072,11306577,10470851,8318737,3054499,1944255,1435774,1435773,1424986,18029348,20053686 6651 NM_032195,AP000303,AP000304,CH471079,M36428,AB028942,AF139897,AF161428,AF161430,NM_138927,AF380180,AF380181,AF380182,AF380183,AF380184,AF435977,AK024752,AK074269,AK091233,AK127947,AK128071,AK307612,AY026895,BC002422,BC005337,BC017278,BC029455,BC046101,AF380179,BC054029,BC066303,BC104656,BF197677,BM998625,X63071,X63751,X63753 NP_620305,NP_115571,EAX09814,EAX09815,EAX09816,EAX09817,EAX09818,EAX09819,EAX09820,EAX09821,EAX09822,EAX09823,EAX09824,AAA36624,BAA82971,AAD50078,AAF28988,AAF28990,AAL34497,AAL34498,AAL34499,AAL34500,AAL34501,AAL34502,AAL30810,BAB14985,BAG52313,BAC87202,AAK07692,AAH02422,AAH05337,AAH29455,AAI04657,CAA44793,CAC69885,CAA45282,P18583,Q3SWV4,Q6PKE0,Q6ZRV7 Hs.517262 BASS1|C21orf50|DBP-5|FLJ21099|FLJ33914|KIAA1019|NREBP|SON3 Bax antagonist selected in Saccharomyces 1|NRE-binding protein|OTTHUMP00000197908|OTTHUMP00000198934|negative regulatory element-binding protein|protein DBP-5|protein SON protein-coding 1606708 SONP1 SON pseudogene 1 8503959 148300 NG_001549,X63754,X71604,AL356276 pseudo 1320080 SORBS1 sorbin and SH3 domain containing 1 1642731,1642744,1580863 15716063,15489336,15489334,14702039,9447983,10085297,11374898,11001060,11371513,19165527,18660489,18394047,17462669,16381901,15777793,18029348,12849814,12690089,12510380,12504111,12477932,12421765,12395215,12079283,11997497,11557983,11532984,11481476,11230166,11076863,10718198,10583506,9461600,15128873,17353931,12650714,14627618,16374509,16385451,17082770,19282865,19891780,20129698,20201926,20379614,20936779 1642731,1642744 10580 AF356527,AJ489942,AK022468,AK294924,AK300407,AK304130,AK304753,AL117472,AL122082,AL707894,AL832353,AM260536,BC042612,BC152463,BX640814,U70668,NM_024991,NM_006434,NM_001034957,NM_001034955,NM_001034954,NM_001034956,AL157890,AL158165,CH471066,AB037717,AF136380,AF136381,NM_015385,AF330623,AF330624,AF356525,AF356526 AAK37565,CAD34588,BAG58006,BAG62137,BAG65026,BAH14253,CAB55947,CAJ97431,AAH42612,AAI52464,CAE45892,AAB93496,Q5T923,Q5T927,Q5T928,Q5T929,Q5T930,Q5T931,Q5T932,Q6MZY5,Q9BX66,CAL37960,AAI60134,NP_056200,NP_079267,NP_006425,NP_001030129,NP_001030127,NP_001030126,NP_001030128,CAI14378,CAI14379,CAI14380,CAI14381,CAI14382,CAI14383,CAI14384,CAI14385,EAW49998,EAW49999,EAW50000,EAW50001,EAW50002,EAW50003,EAW50004,EAW50005,EAW50006,EAW50007,EAW50008,BAA92534,AAD27647,AAF22175,AAK57479,AAK57480,AAK37563,AAK37564 Hs.721201 CAP|DKFZp451C066|DKFZp586P1422|FLAF2|FLJ12406|KIAA1296|R85FL|SH3D5|SH3P12|SORB1 Fas-ligand associated factor 2|OTTHUMP00000020142|OTTHUMP00000020143|OTTHUMP00000020144|OTTHUMP00000020145|OTTHUMP00000020146|OTTHUMP00000020147|SH3 domain protein 5|SH3-domain protein 5 (ponsin)|c-Cbl associated protein|c-Cbl-associated protein|ponsin|sorbin and SH3 domain-containing protein 1 protein-coding 732975 SORBS2 sorbin and SH3 domain containing 2 Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 18559503,16381901,16344560,16189514,15949647,15784622,15489336,15302935,15146197,15128873,14702039,12510380,12477932,12475393,12421765,12023963,11752456,11481476,11292345,11230166,11076863,10521485,9872452,9373149,8889549,8125298,16169070,15778465,9211900,19240061,20029029,16374509,19631450,20379614 8470 NM_001145670,NM_003603,NM_021069,NM_001145671,NM_001145672,NM_001145673,NM_001145674,NM_001145675,AC093797,AC096659,AC104805,AC108472,CH471056,AA114994,AB018320,AF049884,AF049885,AF090937,AK056628,AK056758,AK225327,AK225812,AK293400,AK295742,AK296461,AK304653,AK312986,AL134289,AL527982,AU142147,AV658263,BC011883,BC035329,BC069025,BC122526,CB988614,CN340607,CR625998,DA105517,DA119376,DA139168,DA836871,DC421607 NP_066547,NP_001139142,NP_003594,NP_001139143,NP_001139144,NP_001139145,NP_001139146,NP_001139147,EAX04630,EAX04631,EAX04632,EAX04633,EAX04634,EAX04635,EAX04636,EAX04637,BAA34497,AAC05508,AAC05509,AAF24049,BAG51769,BAG51806,BAH11501,BAH12173,BAH12362,BAH14233,BAG35823,AAH11883,O94875,CAL37436,CAL37496,CAL37534,CAL37644,CAL37671,CAL37728,CAL37733,CAL37767,CAL37811,CAL37863,CAL37890,CAL37892,CAL37912,CAL37932,CAL37934,CAL38005,CAL38050,CAL38068,CAL38099,CAL38145,CAL38245,CAL38378,CAL38512,CAL38526,CAL38569,CAL38582,CAL38709,ACE87726,ACE87043 Hs.619806,Hs.655143 ARGBP2|FLJ93447|KIAA0777|PRO0618 Arg binding protein 2|Arg/Abl interacting protein|Arg/Abl-interacting protein 2|OTTHUMP00000211723|OTTHUMP00000211726|OTTHUMP00000211728|arg/abl-interacting protein argbp2|sorbin and SH3 domain-containing protein 2 protein-coding 1604395 SORBS3 sorbin and SH3 domain containing 3 The SORBS3 gene encodes 2 isoforms vinexin-alpha and -beta that are vinculin (VCL; MIM 193065)-binding cytoskeletal proteins involved in focal adhesion and cell-cell adhesion (Kioka et al., 1999 [PubMed 9885244]).[supplied by OMIM] 9885244,19294487,17486060,17081983,16964243,15734736,15489334,15302935,15242778,15184391,12660241,12657639,12510380,12477932,10585480,11481476,18662323,16923119,16189514,14627618,16302969,16374509,16831423,19807924,20361963,20205591 10174 NM_001018003,AC037459,CH471080,AF037261,AF064807,AK301196,AK303950,BC004314,BC010146,BC067260,BC091514,NM_005775,BM999851,CF456833,CR598111,CR605936,CR606865,CR610210,CR621670,CR622445,CR623414,CX783871 NP_005766,NP_001018003,EAW63673,EAW63674,EAW63675,EAW63676,AAC09244,AAD32304,BAG62776,BAG64877,AAH04314,AAH10146,AAH67260,AAH91514,O60504,Q96FY4,Q9BT70 Hs.528572 SCAM-1|SCAM1|SH3D4|VINEXIN SH3-containing adapter molecule 1|sorbin and SH3 domain-containing protein 3|vinexin|vinexin beta (SH3-containing adaptor molecule-1) protein-coding 1314224 SORCS1 sortilin-related VPS10 domain containing receptor 1 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20881129,11499680,12482870,19241460,18830724,18519826,18315530,15164054,14702039,19913121,20534741,20574532,20628086,20677014,12477932,16385451,19875614,19948975,20379614,20413850 114815 NM_052918,NM_001013031,AL133395,AL160010,AL356255,AL356308,AL357333,CH471066,AB209142,AF284756,AK074581,AK123752,AK125464,AK126905,AK289797,AY099452,AY099453,BC131597,BE019093 NP_443150,NP_001013049,CAI40753,CAI40754,CAI40755,CAH70582,CAH73442,CAI14367,CAI16407,EAW49583,EAW49584,EAW49585,EAW49586,EAW49587,BAD92379,AAL56667,BAG53952,BAG54201,BAG54391,BAF82486,AAM43811,AAM43812,AAI31598,Q8WY21 Hs.591915 FLJ41758|FLJ43475|FLJ44957 OTTHUMP00000020447|SORCS receptor 1|VPS10 domain receptor SorCS|VPS10 domain receptor protein SORCS 1|VPS10 domain-containing receptor SorCS1|hSorCS protein-coding 1321631 SORCS2 sortilin-related VPS10 domain containing receptor 2 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq] 1580863 19328558,19308021,16344560,12477932,10718198,19851296,20080650,20198315,20379614,11499680 57537 NM_020777,AC004169,AC080003,AC097382,AC112710,AC116316,CH471131,FJ695208,AB037750,AF286190,AI206155,AK295629,BC035257,DA215907,R37251 NP_065828,EAW82363,EAW82364,BAA92567,AAL04014,BAG58506,Q96PQ0,AAI56054,AAI56940 Hs.479099 OTTHUMP00000217248|VPS10 domain receptor protein|VPS10 domain-containing receptor SorCS2 protein-coding 1322178 SORCS3 sortilin-related VPS10 domain containing receptor 3 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. [provided by RefSeq] 1580863 11499680,15710408,15164054,12477932,10470851,16385451,20379614 22986 AL161646,AL353900,AL355350,AL358949,AL365449,AL445492,AL589942,AL596118,CH471066,AB028982,AK303009,NM_014978,BC045754,BC117417,HC007286 BAH13877,NP_055793,CAH70335,CAI64578,CAI64579,CAH72221,CAH70813,CAH70477,CAH70023,EAW49589,EAW49590,BAA83011,AAH45754,AAI17418,Q17R88,Q86XB2,Q9UPU3,CBH19448 Hs.671950 RP11-107L7.1|SORCS 6330404A12Rik|VPS10 domain receptor protein SORCS 3 (SORCS3)|VPS10 domain-containing receptor SorCS3 protein-coding 735508 SORD sorbitol dehydrogenase 1601360,1300048,1580863,1601362,1601364 20628624,16344560,3365415,6870831,8487505,12962626,14965227,16278369,6177277,17343568,16189514,15862967,15489334,14702039,12665801,12595725,12477932,9880675,9183016,8088829,7782086,7601136,6439573,2936393,2691249,20372835,8535074,19423711 1601360,1601362,1601364 6652 NM_003104,AC090888,AC091117,CH471082,L29254,U67243,AK090738,AK296574,AK309672,AK312444,BC021085,BC025295,CR601547,CR616486,L29008,U07361,BI258813,DA530494,DB031906,NR_034039 NP_003095,EAW77284,EAW77285,AAA80566,AAB61898,BAG59194,BAG35352,AAH21085,AAH25295,AAA80565,AAA66064,Q00796,ABM83695,ABM87015 Hs.878 SORD1 L-iditol 2-dehydrogenase|sorbitol dehydrogenase protein-coding 1322123 SORL1 sortilin-related receptor, L(DLR class) A repeats-containing This gene encodes a protein that belongs to the families of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins, of low density lipoprotein receptor (LDLR) proteins, and of fibronectin type III repeats proteins. In addition to VPS10, LDLR and fibronectin type 3 domains, this protein also includes an epidermal growth factor precursor-like module, a single transmembrane segment and a cytoplasmic tail with features similar to endocytosis- and sorting-competent receptors. Members of the VPS10 domain-containing receptor family are large with many exons but the CDS lengths are usually less than 3700 nt; this gene is an exception to the pattern with a CDS length greater than 6600 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. The encoded protein is mainly intracellular and localizes in the paranuclear compartment. It is synthesized as a preproprotein, and when the propeptide is still attached, no binding occurs to the VPS10 domain. This gene is strongly expressed in the central nervous system. [provided by RefSeq] 1581303,1580863 19913121,20534741,20574532,20625269,20628086,20634593,20667857,18407551,16489755,18093545,18090307,18063222,17978276,17975299,17949987,17826910,17721864,17589324,17420311,17220890,16565469,16531402,16407538,16344560,16174740,15313836,14764453,14702039,12970790,12530537,12477932,11821067,11557679,11294867,10375696,8940146,8619474,17326667,9157966,19368828,19364927,19077115,19064752,18938222,18830724,18713574,18685254,18603531,18562096,18541377,19539718,19584446,19653016,19822782,19889229,19889475,20379614,20413850,20838585,20047743,20880607,20946940,20689279 1581303 6653 BX365721,NG_023313,NM_003105,AP000664,AP000977,CH471065,AI358248,AK025583,AK096577,AK294404,AK295090,AK295878,AK302589,AK309523,AK316340,BC032903,BC040643,BC137171,BQ888333,DA386525,DB499706,DN831521,U90916,Y08110 NP_003096,EAW67524,EAW67525,EAW67526,EAW67527,BAG57656,BAG58131,BAG58675,BAG63842,BAH14711,AAI37172,CAA69325,Q92673 Hs.368592 C11orf32|FLJ21930|FLJ39258|LR11|LRP9|SORLA|SorLA-1|gp250 LDLR relative with 11 ligand-binding repeats|low-density lipoprotein receptor relative with 11 ligand-binding repeats|mosaic protein LR11|sortilin-related receptor|sortilin-related receptor containing LDLR class A repeats|sortilin-related receptor, L(DLR class) A repeats-containing|sorting protein-related receptor containing LDLR class A repeats protein-coding 731682 SORT1 sortilin 1 This gene encodes a protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical features of a signalling receptor. In the TGN, furin mediates the activation of the mature binding form. The encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose 6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin homologous, ARF-interacting) proteins. [provided by RefSeq] 1580863 20570916,20584990,20628624,20679960,16087676,19219422,19837406,19875813,20031591,20036257,20048080,20085800,20159974,20167577,10085125,14985763,9756851,11331584,15992544,18258592,19487539,19299407,19198609,19148283,19060910,19060906,18713973,18624930,20339536,20383146,20686565,15930396,15489334,15364913,15313463,14702039,14657016,12598608,12477932,12419319,12360476,12209882,11859376,11499680,11390366,11257441,10390649,9927419,9657377,9305862,9013611,11821067,18603531,18193044,18193043,18191449,18088323,17353931,17220298,16710414,16344560,16263699,15987945,20613775,20816088,20686566,20738937,20971364,21087763 6272 FJ525881,AL390252,CH471122,AI623426,AI695671,AK000757,AK023648,AK129918,AK130545,AK293118,AK301548,AK310147,AL117561,AU132384,BC023542,BC041982,NM_002959,BC053575,BF591118,BQ001031,BQ774407,BX955818,CB267773,CR611381 ACN81319,NP_002950,CAI13180,EAW56380,BAF85807,BAG63045,AAH23542,Q99523,ABM87792 Hs.485195,Hs.703487 Gp95|LDLCQ6|NT3 100 kDa NT receptor|NTR3|glycoprotein 95|neurotensin receptor 3|sortilin protein-coding 1322140 SOS1 son of sevenless homolog 1 (Drosophila) This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq] 1299201,1580011,1580863,1581104,1581110,2317988 19913121,20543023,20628086,9790532,9690470,10206341,12029088,14679214,17474147,11520933,8493579,7739560,8479541,8810325,19289468,19206169,19133693,19077116,19020799,18972187,18778683,18660489,18651097,18454158,18064648,17586837,17510059,17486115,17437339,17315019,17283063,17143285,17143282,17075039,17062749,16906159,16760435,15976327,15302935,15173068,15010862,14656442,14565974,14551916,12486104,12223473,12147692,9182757,9182529,9162067,8816480,8647802,8631299,8276400,7862111,7664271,7629168,7520523,8112292,7529874,7544443,11997436,10783152,10675333,10570290,9632781,10940929,9660480,12577067,11964172,11960376,10477741,10319320,10207103,9872323,9009162,8695800,8188688,7514169,9344843,7510700,8632004,12628188,9374537,20950586,20389169,12099688,11956071,11868160,11707404,11560935,11560919,11352907,11278868,11173924,11071869,10995566,10943841,10913276,10716926,10706702,10507724,10499589,10026169,9856337,9651378,9544989,9529355,9480847,9447973,9374522,20724475,20305546,20936779,11756498,12376548,12787561,15824104,17389601,19352411,19438935,19464300,19724911,19911011,19953625,20005866,20133692,20133694,20186801,20302979,20379614,20607846,21048031,20683980 1299201,1580011,1581104,1581110,2317988 6654 NM_005633,NG_007530,AC019171,AC092672,AF106953,AF441482,CH471053,AB209140,AK290228,AK301960,AL833457,AV702692,L13857,HI376402 NP_005624,AAX93186,AAY24202,AAF04460,AAM22406,EAX00350,EAX00351,EAX00352,EAX00353,BAD92377,BAF82917,BAG63374,AAA35913,Q07889,Q53SF8,Q59GG9,Q8NIA3,Q9UKX9,AAI40216,CBX55730 Hs.709893 GF1|GGF1|GINGF|HGF|NS4 OTTHUMP00000128306|OTTHUMP00000204121|SOS-1|gingival fibromatosis, hereditary, 1|guanine nucleotide exchange factor|son of sevenless homolog 1 protein-coding 1346295 SOS2 son of sevenless homolog 2 (Drosophila) 1299201,1580863,2317988 14679214,17474147,19289468,17440948,17143285,14551139,12628188,12477932,12097864,11003655,10940929,10938118,10820259,10675333,9372945,9067577,8943292,8493579,8276400,7629138,20936779,11756498,12376548,12787561,19911011 1299201,2317988 6655 NM_006939,AL109758,CH471078,AB209277,AI419975,AK295868,AK302825,AK308978,AK309123,BC117261,BC143366,BC143367,L13858,L20686 NP_008870,EAW65727,EAW65728,BAD92514,BAG58667,BAG64022,AAI17262,AAI43367,AAI43368,AAA35914,AAA91852,Q07890,Q59G32,ADR83296 Hs.291533 FLJ25596 SOS-2|guanine nucleotide exchange factor|guanine nucleotide releasing factor|son of sevenless homolog 2 protein-coding 737334 SOST sclerosteosis Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq] 68858,1580863 20817762,11181578,19371798,19079262,19075223,19072561,18931653,18292354,17185822,17052975,17002572,16189254,16123173,15545262,15514891,15489334,15454089,15340161,15199066,15024046,14739291,12975309,12477932,12398949,12116252,11836356,11179006,20336693,14633986,19208630,19453261,19857121,19877044,19898734,19936252,20043874,20156921,20305005,20359476,19778325,20583295,20951118,20200987,15908424,20534768,20554715 68858 50964 NM_025237,NG_008078,AC055813,AF326736,CH471178,CQ986736,AF170491,AF184211,AF326739,AF331844,AY358203,AY358627,BC101086,BC101087,BC101088,BC101089 NP_079513,AAK13451,EAW51669,CAI46877,AAQ13601,AAQ13694,AAK13454,AAK16158,AAQ88570,AAQ88990,AAI01087,AAI01088,AAI01089,AAI01090,Q7Z2R3,Q7Z4G0,Q9BQB4 Hs.349204 VBCH sclerostin protein-coding 1343094 SOSTDC1 sclerostin domain containing 1 This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq] 18032587,15951218,15489334,15280373,15020244,14702039,14623234,12853948,12690205,12477932,20339536,17207965,19760604 25928 NM_015464,AC079155,CH236948,CH471073,AB059270,AF361494,AI540640,AI927000,AK093408,AK315682,AL050024,AY255634,BC008484,CR606874,CR614752 NP_056279,AAQ96855,EAL24287,EAW93669,BAC20331,AAL57219,BAG52710,BAG38047,CAB43243,AAQ83296,AAH08484,Q6X4U4,ADQ32508 Hs.648106 CDA019|DKFZp564D206|ECTODIN|USAG1 cystine-knot containing secreted protein|ectodermal BMP inhibitor|sclerostin domain-containing protein 1|uterine sensitization-associated protein-1 protein-coding 1348976 SOX1 SRY (sex determining region Y)-box 1 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq] 1580863 20634891,9337405,19061938,18032743,15110721,12194848,12100890,11071752,10729834,9512512,19667272,20515335,20844123 6656 NM_005986,AL138691,CH471085,Y13436 NP_005977,CAH72340,EAX09158,CAA73847,O00570 Hs.202526 SRY-related HMG-box gene 1|transcription factor SOX-1 protein-coding 731681 SOX10 SRY (sex determining region Y)-box 10 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq] 1580863 20308050,16205963,12138193,11029584,9722528,19422606,19320733,18923447,18786246,18636017,18627047,18512230,18348274,18348267,17999358,17855658,17855451,17621166,17009072,16896310,16791471,16741945,16582099,16494873,16214168,20478267,20653825,15930386,15896776,15843399,15489334,15461802,15004559,14523991,12944398,12720173,12668617,12477932,12189494,11546831,10942418,10762540,10591208,10482261,10441344,9760192,9462749,9425902,1636383,19764030,19912373,19933217,20067553,20130826 6663 NM_006941,NG_007948,AL031587,CH471095,AJ001183,AK300945,BC002824,BC007595,BC018808,BT020029,CR456584,CR536571 NP_008872,CAB62982,CAO72041,EAW60204,EAW60205,CAA04576,BAG62574,AAH02824,AAH07595,AAV38832,CAG30470,CAG38808,P56693,Q6FHW7,CAK54614,CAK54913,ABM84098,ABM87470 Hs.376984 DOM|MGC15649|PCWH|WS2E|WS4|WS4C OTTHUMP00000195094|OTTHUMP00000195097|SRY-related HMG-box gene 10|dominant megacolon, mouse, human homolog of|sry-box containing gene 10|transcription factor SOX-10 protein-coding 735734 SOX11 SRY (sex determining region Y)-box 11 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq] 1580863 8666406,16018252,18029348,17934069,17762975,16276109,16166090,15944188,15345747,12637543,12477932,12194848,12125983,12100890,10574465,9632656,8332506,20383146,10606637,19801969,19808959,19880778,19880779,20124476,20624318 6664 NM_003108,AC108025,CH471053,X73038,AB028641,BC025789,CR622054,U23752 NP_003099,AAX88930,EAX01047,CAA51519,BAA88122,AAH25789,AAB08518,P35716,Q05CH0,AAI60119 Hs.432638 SRY (sex-determining region Y)-box 11|SRY-related HMG-box gene 11|sry-box containing gene 11|transcription factor SOX-11 protein-coding 1318728 SOX12 SRY (sex determining region Y)-box 12 Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq] 1580863 9215677,15489334,12477932,11780052,11222737,11071752,8889548,8332506,7566098 6666 NM_006943,AL034548,CH471133,AA322870,AW296348,BC028103,BC067361,BF530163,BM670751,U35612 NP_008874,CAB81632,EAX10683,AAH67361,AAB69627,O15370 Hs.43627,Hs.712815 SOX22 SOX-22 protein|SRY (sex determining region Y)-box 22|SRY-related HMG-box gene 22|transcription factor SOX-12 protein-coding 1320144 SOX13 SRY (sex determining region Y)-box 13 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq] 1580863 10198172,19536175,14679071,12477932,12473246,12194848,12100890,12021135,12021128,12021109,11323090,11286511,11270687,11264788,11126406,10871192,10854791,9421502,15231748,20028982 9580 BQ216323,BQ935858,NM_005686,AF149301,AL592146,CH471067,AF083105,AF098915,AF116571,AK301782,AK304192,AK304801,AK314197,BC040649,BC106038,BM450236 Q5SXX2,Q9UN79,ABZ92220,NP_005677,AAD50120,CAI16595,CAI16596,EAW91499,EAW91500,AAC83687,AAD16237,AAF23875,BAG63238,BAG65072,BAG65551,AAI06039 Hs.201671 ICA12|MGC117216|Sox-13 OTTHUMP00000034307|SRY-box 13|SRY-related HMG-box gene 13|islet cell antibody 12|islet cell antigen 12|transcription factor SOX-13|type 1 diabetes autoantigen ICA12 protein-coding 1320109 SOX14 SRY (sex determining region Y)-box 14 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq] 1580863 9925951,15489334,12477932,12194848,12100890,10830911,10798354,10441749,9827568,20074681,20797317 8403 NM_004189,AC007159,AF032451,AF032453,AF107043,AF193436,AJ006230,CH471052,AK314127,BC106729,BC106730 NP_004180,AAC94971,AAC94973,AAC95380,AAF76294,CAB43111,EAW79097,BAG36817,AAI06730,AAI06731,O95132,O95416 Hs.248184 MGC119898|MGC119899|SOX28 HMG box transcription factor SOX-14|SRY-box 14|transcription factor SOX-14 protein-coding 1323788 SOX15 SRY (sex determining region Y)-box 15 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq] 1580863 9540826,8332506,18579725,18182846,15489334,12477932,12194848,12100890,10524236,9880678,9827568,9730625,8978787 6665 NM_006942,AB025355,AC016876,AF032450,AF032452,CH471108,X73039,AB006867,AJ006222,BC000985,BC072003 NP_008873,BAA78784,AAC94970,AAC94972,EAW90156,EAW90157,CAA51520,BAA25663,CAA06920,AAH00985,AAH72003,O60248,O95130,O95131,ABM81662,ABM84834 Hs.95582 SOX20|SOX26|SOX27 SRY (sex determining region Y)-box 20|protein SOX-15 protein-coding 1313358 SOX17 SRY (sex determining region Y)-box 17 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq] 1580863 17875931,19369635,18997786,18940723,18682240,18564921,18523156,18413743,16344560,15163629,14702039,12477932,12194848,12100890,11786926,19301122,19549530,19736317,20364137 64321 NM_022454,AC091076,CH471068,AB073988,AK025905,BC030209,BC111365,BC111770,DA874945 NP_071899,EAW86748,BAB83867,BAB15277,AAH30209,AAI11366,AAI11771,Q2NKK5,Q2T9L5,Q9H6I2,AAI40308 Hs.98367 FLJ22252|VUR3 SRY-related HMG-box transcription factor SOX17|transcription factor SOX-17 protein-coding 1323321 SOX18 SRY (sex determining region Y)-box 18 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq] 1599075,1580863 10807548,18564921,18564920,18496767,18065521,16882943,16179596,15489334,12740761,12477932,12194848,12165811,12100890,11780052,11748221,11554755,11130989,10858556,7665083,1614875 1599075 54345 CR611852,CR618677,CR620118,CR621620,CR622272,CR622805,X65664,NG_008095,AL355803,CH471077,AB033888,AF086136,AF270652,AJ243896,BC035513,BC038590,BC073971,BC111390,CR601016,CR603832,NM_018419 CAA46615,P35713,NP_060889,CAC16611,EAW75172,BAA94874,AAG48577,CAB95835,AAH38590,AAH73971,AAI11391 Hs.8619 HLTS SRY-box 18|transcription factor SOX-18 protein-coding 1344695 SOX2 SRY (sex determining region Y)-box 2 This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq] 1599088,1580863 20667095,19876845,18385794,18366076,18293417,18285410,18268498,18199879,18187129,18162777,18157115,18039390,18027866,17898260,17587179,17522144,17506876,17464316,17389240,17334350,17291498,17219395,17136346,16932809,16712695,16596179,16552336,16283891,16153702,15920534,15910596,15489334,14719100,14655050,14559893,12923055,12732652,12710953,12637543,12612584,12477932,12194848,11358870,10801796,10760287,10729834,10089404,8889548,7590241,7849401,19549847,19520737,19414369,19409607,19061938,18948646,18831064,18710938,18474784,18456656,18393632,18388306,20299530,20537983,20510497,20371328,20709360,20875870,20631605,20726797,20454695,20161759,20384793,17982423,18000303,18407919,18836133,19254784,19327014,19396148,19427902,19458492,19471311,19483629,19554373,19657699,19661786,19696409,19716157,19723802,19736317,19767420,19787784,19801978,19816951,19921648,20042675,20057906,20114006,20126410,20138825,20185800,20382729,20494911,20211142,20698766,21048121,20425471 1599088 6657 NM_003106,NG_009080,AC117415,CH471052,AW016610,AW163619,BC013923,BM668019,BM722297,CR592780,L07335,Z31560 NP_003097,EAW78354,AAA35997,CAA83435,P48431,ABZ92183,AAH13923 Hs.518438 ANOP3|MCOPS3|MGC2413 SRY-related HMG-box gene 2|transcription factor SOX-2|transcription factor SOX2 protein-coding 1312334 SOX21 SRY (sex determining region Y)-box 21 SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM] 1580863 16341674,10441749,1614875,12477932,12194848,11076863,9827568,8111369 11166 NM_007084,AF032449,AF107044,AL137061,CH471085,AI418194,AI569726,AI816765,BM783159,X65666,X71136 NP_009015,AAC94969,AAC95381,CAI14398,EAX08946,CAA46617,CAA50466,O95129,Q9Y651,AAI11585 Hs.187577 SOX25 SOX-A|SRY-box 21|transcription factor SOX-21 protein-coding 1350865 SOX2OT SOX2 overlapping transcript (non-protein coding) 16344560,14702039,12612584,12477932,19767420 347689 NR_004053,AC117415,AC125613,AK022826,AL157425,BC016393,BC041898,DA250340 Hs.654932 DKFZp761J1324|NCRNA00043 miscrna 1347884 SOX3 SRY (sex determining region Y)-box 3 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [provided by RefSeq] 1580863 8111369,1614875,9106538,8625802,17994562,17910945,17627381,17587179,17127446,17005281,15800844,15788563,15772651,15489334,15342697,15292361,14714741,14585968,12710953,12477932,12428212,12194848,11071752,10729834,19799567,19902333,20534763 6658 NM_005634,NG_009387,AF264713,AL121875,CH471150,X71135,BC093863,BC093865,X65665,X71137 NP_005625,AAF73059,CAB87584,EAW88422,CAA50465,AAH93863,AAH93865,CAA46616,CAA50467,P41225,Q15505 Hs.157429 GHDX|MRGH|PHP|PHPX|SOXB transcription factor SOX-3 protein-coding 1602491 SOX30 SRY (sex determining region Y)-box 30 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may be involved in the differentiation of developing male germ cells. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 18029348,16189514,15489334,15019997,12477932,11678506,10359848,18436822 11063 NM_007017,NM_178424,AC008694,CH471062,AB022083,AB022441,AK302162,AK308329,BC033492,HC007288 NP_008948,NP_848511,EAW61593,EAW61594,BAA37146,BAA37149,BAG63529,AAH33492,O94993,CBH19449 Hs.716685 Sox30 protein type II|transcription factor SOX-30 protein-coding 4768296 SOX30P1 SRY (sex determining region Y)-box 30 pseudogene 1 442142 XM_001723185,XM_002342580,XM_002346714 XP_001723237,XP_002342621,XP_002346755 SRY (sex determining region Y)-box 30 pseudogene 1 protein-coding 1319854 SOX4 SRY (sex determining region Y)-box 4 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq] 1581119,1581304,1581305,1581306,1580863 18504433,7706298,1614875,18029348,16631117,8268656,16636670,15522200,17875931,19487295,19453261,19234109,19156145,19153074,19147588,18577562,17922414,17507571,16618720,16585165,15489334,15345747,14574404,12477932,12216117,12194848,12125983,12100890,11498591,11127205,11071752,10867006,10729834,10381369,9730625,8530483,8404853,20400479,19887623,20049565,20080751,20237496,20331975 1581119,1581304,1581305,1581306 6659 NM_003107,AL136179,CH471087,AF070669,AF124147,AJ420500,BC072668,BM459088,BM822945,X65661,X70683 NP_003098,CAC03595,EAW55429,AAH72668,CAA46612,CAA50018,Q06945,ABZ92184 Hs.643910 EVI16 SRY-related HMG-box gene 4|ecotropic viral integration site 16|transcription factor SOX-4 protein-coding 1603322 SOX5 SRY (sex determining region Y)-box 5 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 20634891,20639392,8812465,19453261,19219070,19173284,18519826,17554380,17230535,15489334,15231748,14702039,12477932,12406576,12194848,12100890,11912161,11585348,11071752,10729834,9755172,9373149,8889548,8125298,8078769,1614875,19754311,20062060,20195266,20379614,20668334,20339536 6660 NM_006940,NM_178010,AB081590,AB081591,AC069208,AC087244,AC087260,AC087312,AC087319,AC087322,AC090675,AC092773,AC092830,AC092864,AC112915,CH471094,AB081588,AB081589,AK074317,AK096569,AK098610,AK223536,AK299607,AK303970,NM_152989,BC014929,BC029220,BC035227,BC047665,BC060773,BC065532,BU675886,CR456713,S83308,X65662 NP_694534,NP_008871,NP_821078,BAC16235,BAC16236,EAW96486,EAW96487,EAW96488,EAW96489,EAW96490,EAW96491,EAW96492,BAC16233,BAC16234,BAB85048,BAG53325,BAC05353,BAD97256,BAH13079,BAH14086,AAH29220,AAH35227,AAH47665,AAH60773,CAG32994,AAB49537,CAA46613,P35711,Q53EV3,Q6IBT9 Hs.657542 L-SOX5|MGC35153 transcription factor SOX-5 protein-coding 1345400 SOX5P SRY (sex determining region Y)-box 5 pseudogene 1580863 12194848,9827568,8812465 6661 NG_002726,AC005066,AC032002,AF032454 AAC94974,O95133 SOX29 pseudo 1319098 SOX6 SRY (sex determining region Y)-box 6 This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants. 1581307,1580007,1580863,1580857 10760285,1614875,11255018,19453261,19384854,19240061,17961134,17433257,17412698,16442531,16381901,16344560,16258006,15696972,15696967,15489336,14702039,14691456,14530442,12477932,11504872,11230166,11076863,10996314,9755172,19913121,20628086,11256614,19709629,19714249,19801982,20379614,20395365,20548944,21104366,20966410 1581307,1580007,1580857 55553 NM_017508,NM_001145811,NM_001145819,AC009869,AC013595,AC027016,AC068405,AC100865,AC103794,AF309471,AF309472,AF309473,AF309474,AF309475,AF309476,CH471064,AF309034,AK097455,AK310506,AL136780,AL833302,BC029429,BC037866,BC047064,DB080840,DB093816,X65663,NM_033326,NG_012881,AK021785 NP_201583,NP_059978,NP_001139283,NP_001139291,AAK26243,AAK26244,EAW68458,EAW68459,EAW68460,AAK26115,CAB66714,AAH47064,CAA46614,P35712,CAL37472,CAL37608,CAL38234 Hs.368226 HSSOX6|SOXD SRY-box containing gene 6|transcription factor SOX-6 protein-coding 1320707 SOX7 SRY (sex determining region Y)-box 7 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq] 1580863 8125298,21060863,19108950,18940723,18819930,18682240,15489334,15231748,14702039,12477932,11691915,9373149 83595 NM_031439,AC105001,AJ409320,AK055556,AK223574,BC004299,BC071947,BE671627,BG740632,BT006693,BU187815 NP_113627,CAC84226,BAB70955,BAD97294,AAH71947,AAP35339,Q53ER5,Q9BT81 Hs.709543 MGC10895 SOX7 transcription factor|transcription factor SOX-7 protein-coding 1319208 SOX8 SRY (sex determining region Y)-box 8 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq] 1580863 15489334,14702039,12732652,12665801,12477932,11483257,11157797,10684944,10662550,19369635,18512230,16582099,15616553 30812 NM_014587,NG_009933,AC009041,AE006465,CH471112,Z99757,AF164104,AF226675,AK024491,BC031797,CR603537 NP_055402,AAK61260,EAW85691,EAW85692,CAB75612,AAF37424,AAF35886,BAB15781,AAH31797,P57073,Q9H7I9 Hs.243678 MGC24837 transcription factor SOX-8 protein-coding 1322513 SOX9 SRY (sex determining region Y)-box 9 The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq] 1599093,1580863 20530484,20628624,20634891,18830622,18820665,18794798,18677406,18671802,18628953,18577562,18550917,18519685,18512230,18433381,18391513,18339840,18333897,18296708,18271004,18087279,18077449,17935617,17702866,17615267,17551083,17532558,17409199,17360815,17289023,17234760,17197889,17050539,16791471,16554309,16155402,16109717,15922909,15908194,15896776,15781631,15694126,15623506,15489334,15456769,15266301,15240568,15240557,15192080,15077158,12414734,21078438,19614725,20098296,10805756,18029348,19463983,19453261,19234473,19080707,19061938,19019766,18923447,12783851,12732631,12713737,12673561,12477932,12420222,12381733,12136106,12128229,12111997,11990798,11754051,11707075,11356186,11331609,11323423,11076045,10951468,10446171,9774680,9724758,12935820,9569122,9143916,9002675,8894698,8640233,8348155,8001137,7990924,7747782,7485151,1583645,15889150,17848411,18705695,20513132,17986281,19041414,19113914,19322650,19473998,19509063,19657054,19801163,19828133,19921652,20039424,20049725,20103652,19845757,21208124 1599093 6662 NM_000346,NG_012490,AC007461,CH471099,CS025618,S74504,S74505,S74506,AK295455,BC007951,BC018276,BC056420,BT006875,Z46629 NP_000337,EAW89102,CAI61686,AAB32870,BAG58389,AAH07951,AAH56420,AAP35521,CAA86598,P48436 Hs.647409 CMD1|CMPD1|SRA1 SRY (sex-determining region Y)-box 9 protein|SRY-related HMG-box, gene 9|transcription factor SOX-9 protein-coding 732035 SP1 Sp1 transcription factor 1580863 20160399,20384626,16931573,17075044,17124180,18948152,19652226,19661285,20211142,20819778,20851106,20127720,3139301,17827154,10816420,12485937,12477932,12475396,12466967,12458222,12439750,12433697,12427542,12421830,12384434,12379120,12378384,12359731,12358602,12324467,12297462,12239153,12228247,12228234,12221105,12213324,12200149,12186868,12151407,12151347,12134007,12133007,12105191,12091390,12088866,12077144,12055073,12054741,12052832,12050359,12034813,12021324,12004059,11997063,11988536,11914583,11909966,11904305,11896613,11884455,11867623,11856466,11853549,11850421,11844788,11842244,11839795,11839742,11796707,11585914,11432852,11294852,11274368,11237613,11114293,11022037,10987820,10976766,10973950,10919277,10878024,10850422,10825178,10816575,10809237,10747986,10720440,10704334,10681512,10644726,10547281,10506225,10471301,10644332,10457364,10446910,10393859,10362258,10361124,10224053,10215616,10103059,10089212,10082523,9915847,9882443,9819401,9748305,9742090,9694791,9685344,9651398,9566873,9535906,9525610,9525578,9492043,9472608,9388268,9372921,9353275,9343410,9329821,9278494,9271438,9153193,9121429,9065444,8849451,8845379,8800208,8668525,8657142,8657141,8628270,8626793,8422676,8411386,8404040,8244404,8230415,8207805,7933095,7732011,7690421,7666561,7622044,7621073,7592727,7565695,7559627,7541039,3319186,2657100,2512012,1924310,1912570,1662663,1583736,17150965,16120388,15725353,15353294,15142377,15869407,9885563,12176973,12706836,10617653,11018012,14623863,15661808,15838506,15780936,8327494,15574328,15837427,15619633,15019994,15674334,15550242,14657503,15489334,15468069,15466927,15466008,15462673,15367601,15345676,15342781,15339794,15302935,15302882,15282343,15247906,15217947,15194684,15180327,15118068,15117948,15111490,15100293,15094066,15084343,15064717,15033443,15024015,15001984,14977835,14970236,14766015,14744869,14744793,14742449,14701757,14676314,14670973,14660675,14652633,14645238,14608051,14568562,14561739,14532290,14514691,13680213,12972613,12954631,12943729,12933821,12911579,12888575,12855699,12855685,12847250,12847090,12818425,12811817,12804776,12769819,12753906,12748179,12732645,12730302,12694199,12682078,12670868,12665582,12665574,12664565,12642036,12634356,12624107,12615703,12612060,12576329,12569082,12560236,12513689,12509426,20699577,20971080,20888937,20950431,20926649,14988427,16439465,16478997,16651265,18632985,19401466,20180024,20360975,20946882,15523672,12169688,14580349,12560508,18029348,19438726,19372209,19307576,19302979,19245816,19193796,19164283,19164126,19154347,19147754,19141126,19138671,19132086,19131339,19124744,19120021,19118563,19116449,19115249,19111069,19106100,19070619,19064990,19064501,19049975,18996451,18990686,18930904,18852899,18850004,18843277,18812468,18811981,18809386,18801742,18790604,18786141,18775869,18772363,18769160,18765668,18725933,18714402,18706393,18701434,18673381,18660489,18655767,18654640,18653454,18640248,18619531,18604866,18593937,18593936,18588874,18579560,18572193,18556457,18555711,18543253,18525291,18524846,18522535,18519037,18509005,18483225,18449948,18423053,18419748,18396147,18391986,18384375,18378679,18372343,18365874,18353772,18348986,18343609,18329191,18328811,18314536,18298657,18261712,18258854,18243132,18226133,10393239,18199680,18195733,18192274,18173747,18171990,18165235,18068676,18065760,18064606,18053794,18034423,18031462,17990281,17965828,17958743,17938207,17927842,17920708,17916230,17894944,17893646,17890878,17889508,17885207,17855482,17851584,17804646,17719138,17705132,17698844,17689681,17681019,17670825,17656364,17652716,17616668,17609267,17600309,17597815,17540780,17530395,17384146,17373631,17343736,17321722,17311278,17307335,17297470,17289023,17287525,17272513,17264126,17224162,17215518,17202341,17192956,17161377,17046201,17026958,17014845,16965966,16964286,16964243,16943418,16883603,16879824,16815888,16807381,16807373,16806531,16760259,16740634,16734381,16728402,16715126,16714763,16714330,16690926,16677608,16675542,16672217,16671893,16631833,16603733,16582099,16575904,16565233,16529657,16516150,16442295,16413224,16410262,16378688,16377629,16361535,16339759,16304843,16260592,16260418,16248979,16245312,16158248,16118214,15998736,15987735,15979574,15970595,15955096,15951564,15908479,15907486,15905415,15878880,15863387,15850836,15828018,15821099,15816870,15790310,15788387,15777284,15760895,15735752,15709764,15706661,15694838,15691849,15666829,15665278,15650166,15647279,15637147,15563462,15531587,15528990,15528196,20508969,20515446,20807505,19563076,20091743,20518744,20538607,20528922,19062177,20936779,12771217,14710355,14979875,15109260,15710382,17024177,17225865,17418410,17474147,17786189,17927860,18293083,19105596,19115260,19296249,19339282,19558215,19588484,19621387,19633291,19666599,19703278,19747485,19755487,19758310,19772640,19783902,19816048,19875459,19994725,20047772,20061391,20086170,20102333,20121949,20141633,20144149,20149781,20150555,20351094,20381594,20383178,2833704,7824954,8463313,20591193 6667 NM_138473,NM_003109,AB039286,AC068889,AC073611,AF255681,AF261690,CH471054,AB209678,AF252284,AF255682,AI282745,AI561005,AJ272134,AK311995,AL442093,BC012008,BC043224,BC062539,BC078158,BF434304,BF436290,BF671559,BM463205,BQ072120,BQ431320,BQ774060,CD104746,FJ949572,J03133,CS691415,FN908228 NP_612482,NP_003100,BAB13476,AAF78780,AAF75063,EAW96698,EAW96699,EAW96700,BAD92915,AAF67726,AAF78781,CAB75345,BAG34933,AAH43224,AAH62539,ACR22508,AAA61154,P08047,Q59EY3,Q9NR52,CAP12210,CBM42955 Hs.620754,Hs.649191 specificity protein 1|transcription factor Sp1 protein-coding 1348100 SP100 SP100 nuclear antigen 1580863 20677014,17081983,14647468,9636147,9636146,15247905,8810287,9230084,17332504,19279115,20936779,17000644,16873258,16415175,16344560,16189514,16177824,15882967,15592518,15489334,15231748,14702039,12477932,11909962,11574059,11313457,10921892,10766566,10212234,9973607,9412458,8695863,2258622,11716541,11792325,18691969,20512085,15017387,17245429,17491593,18029348,20130140,20379614,20211142,20800603 6672 CR613678,NM_001080391,NM_003113,AC009949,AC010149,AF076675,AF146342,AF378670,CH471063,X95472,AF056322,AF255565,AI886092,AK090565,AK091898,AK126529,AK160379,AK293373,AK304205,AW978040,BC011562,CR601757,DA562355,L79986,L79987,L79988,L79989,M60618,U36501,CR749288 AAF43098,NP_001073860,NP_003104,AAX88870,AAY14879,AAF39781,AAK57703,EAW70927,EAW70928,EAW70929,CAA64744,AAC39790,AAK51202,BAD18722,BAG56886,BAG65081,AAH11562,CAH18143,AAL77441,AAL77439,AAL77438,AAL77440,AAA35537,AAC50743,P23497,Q4ZG64,Q53TD0,Q68DS7,Q6ZMK3,Q8TE33,Q9P0W1 Hs.369056 DKFZp686E07254|FLJ00340|FLJ34579 OTTHUMP00000204342|SP100-HMG nuclear autoantigen|lysp100b|nuclear antigen Sp100|nuclear antigen sp100|nuclear autoantigen Sp-100|nuclear dot-associated Sp100 protein|speckled 100 kDa protein-coding 1320919 SP110 SP110 nuclear body protein The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq] 1580863 20211142,21033425,7693701,18758461,17883869,17510920,17287948,17149599,16960008,16816019,16803959,16648851,16344560,15489334,15308735,15063762,14559998,12539042,12477932,10913195,10388521,16169070,20196868,20331378,20332261,20353833 3431 NM_080424,NM_004510,NG_008295,AC009950,CH471063,DQ124709,DQ124712,DQ124713,DQ124714,DQ124715,AF280094,AF280095,AK026488,AK128274,AK301097,AL579921,AL832300,BC012447,BC019059,BG231996,CA432211,CR625933,DA958469,DB474530,L22343,NM_004509,NM_001185015 NP_004500,NP_536349,NP_004501,AAX93281,EAW70915,EAW70916,EAW70917,EAW70918,EAW70919,AAZ23281,AAZ23282,AAZ23283,AAZ23284,AAZ23285,AAF99318,AAG09826,BAG62696,AAH12447,AAH19059,AAD13402,Q2I9L9,Q2I9M0,Q2I9M1,Q2I9M2,Q2I9M3,Q6PJR6,Q9HB58,NP_001171944 Hs.145150 FLJ22835|IFI41|IFI75|IPR1|VODI interferon-induced protein 41, 30kD|interferon-induced protein 41/75|interferon-induced protein 75, 52kD|phosphoprotein 41|phosphoprotein 75|sp110 nuclear body protein|speckled 110 kDa|transcriptional coactivator Sp110 protein-coding 1314926 SP140 SP140 nuclear body protein 1580863 20332261,8695863,8910577,18758461,18029348,12477932,12368356,12887892,20731705,21102463 11262 NM_001005176,AC009949,AC009950,CH471063,AA741304,AK301267,AK301317,BC038091,BC054890,BC070160,BC105743,BC105744,BC105960,U36499,U36500,U63420,NM_007237 NP_009168,NP_001005176,AAX88868,AAX93282,EAW70920,EAW70921,EAW70922,BAG62830,BAG62868,AAH38091,AAH54890,AAH70160,AAI05744,AAI05745,AAI05961,AAB18616,AAB18617,AAC50817,Q0VGE4,Q0VGE5,Q13342,Q3KR17,Q6NSG4,Q8IWJ1,Q7Z2U4 Hs.632549 LYSP100|LYSP100-A|LYSP100-B|MGC126440 lymphoid-restricted homolog of Sp100|lymphoid-specific SP100 homolog|nuclear autoantigen Sp-140|nuclear body protein SP140|speckled 140 kDa protein-coding 1604252 SP140L SP140 nuclear body protein-like 16344560,14702039,12477932,20800603,20379614 93349 NM_138402,AC009949,CH471063,AK023116,AU130836,BC004921,BC105007,BC143624,BQ232706,BQ690359,CR987282,DB240458,DW428200,HA637636 NP_612411,AAX88869,EAW70924,EAW70925,EAW70926,BAB14413,AAH04921,Q9H930,CAZ39540 Hs.662198 MGC132667 OTTHUMP00000207580|nuclear body protein SP140-like protein protein-coding 1347414 SP2 Sp2 transcription factor This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq] 1580863 1341900,18029348,17071613,16467376,16201967,15953604,15788387,15489334,15126343,14726517,14702039,12477932,10547281,10454592,9730617,7584044,17827154,19482358,19698806,19834535 6668 NM_003110,AC018521,CH471109,AK097532,BC005914,BC016680,BC033814,D28588,DB451570,M97190 NP_003101,EAW94782,EAW94783,EAW94784,EAW94785,EAW94786,EAW94787,AAH05914,AAH16680,AAH33814,BAA05923,AAA36629,Q02086,Q9BRW5 Hs.514276 transcription factor Sp2 protein-coding 1319818 SP3 Sp3 transcription factor This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. [provided by RefSeq] 1580863 14667819,16696853,9278495,12560508,19309563,19212434,19064501,18725933,18604866,18593936,18543253,18522535,18496767,18393243,18348986,18343609,18342022,18329191,18314536,18195733,18065760,18053089,17894944,17698844,17681019,17652716,17616668,17548428,17540780,17343736,17297470,17241874,16965966,16807381,16806531,20519498,20538607,16651265,16734381,20180024,16760259,7559627,16677608,16672217,16671893,16603733,16574784,16529657,16339759,16150893,16081043,16024108,15987735,15979574,15951564,15831526,15821099,15816870,15790310,15777284,15747776,15706661,15666829,15572681,15523672,15494207,15489334,15474306,15466927,15247906,15247228,15118068,15111490,15107420,14970236,14767558,14767471,14766015,14742449,14697235,14645238,14623259,14608051,12972613,12943729,12911579,12855685,12837748,12818425,12730302,12694199,12664565,12576329,12509426,12477932,12419227,12411611,12378384,12356736,12297462,12297010,12186868,12176973,12151407,12133007,12071960,12054741,12004059,11867623,11850421,11839742,11796707,11773047,11447232,11237613,10816575,10547281,9388268,9329821,9224612,8938460,8896459,8845379,7800480,7732011,1454515,1341900,15869407,12091390,15619633,15780936,15546615,12771217,19339282,20518744,17124180,20462637 6670 NM_001017371,NM_003111,AC016737,AC093399,AF494280,AY251018,CH471058,AA706229,AB209334,AJ310752,AK304199,AK310663,AW204666,AW295583,AY070137,AY441957,AY441958,BC042945,BC126414,BC143928,BX648857,CR749323,M97191,X68560,BQ010796,NM_001172712 NP_001017371,NP_003102,AAM12875,AAP03059,EAX11152,EAX11153,EAX11154,EAX11155,BAD92571,CAC34575,BAG65079,AAL58086,AAL58087,AAL58088,AAR30505,AAR30506,AAH42945,AAI26415,AAI43929,CAH18178,AAA36630,CAA48562,Q02447,Q59FX5,Q68DP2,Q86TP0,Q8TE45,Q8WWU2,Q8WWU3,NP_001166183,ADR83384 Hs.531587 DKFZp686O1631|SPR-2|SPR2 GC-binding transcription factor Sp3|OTTHUMP00000205122|specificity protein 3|transcription factor Sp3 protein-coding 2302538 SP3P Sp3 transcription factor pseudogene 15474306,12477932 160824 NG_004748,AL163533,AL354997,AY441959,BC036697 Hs.407509 pseudo 731794 SP4 Sp4 transcription factor 1581308,1581309,1580019,1580863 7559627,12560508,19401786,18593936,17356515,16574784,15788387,15345676,12853948,12477932,12107411,11943774,11438531,11007485,10570957,7800480,7607696,1454515,12004059,20538607,10547281,19656107,19934275,20038947,20125088,20298200,20487506 1581308,1581309,1580019 6671 NM_003112,CH236948,CH471073,AK289728,AK296749,BC015512,BC109300,BC109301,BQ639622,X68561 NP_003103,EAW93733,BAF82417,BAG59332,AAI09301,AAI09302,CAA48563,Q02446,Q32M51,ABZ92432 Hs.88013 HF1B|MGC130008|MGC130009|SPR-1 transcription factor Sp4 protein-coding 1318302 SP5 Sp5 transcription factor 16380080,15820306,15146197,12477932 389058 NM_001003845,AC007405,CH471058,AB096175,AW450640,BC069026,BQ064677,CN275885 NP_001003845,EAX11238,EAX11239,BAD34944,Q6BEB4,AAI72750 Hs.368802 transcription factor Sp5 protein-coding 1315575 SP6 Sp6 transcription factor SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM] 15489334,14551215,12477932,11087666 80320 NM_199262,AC018521,CH471109,AK127707,AK127850,BC103951,BC103952,BC103953,BC103954 NP_954871,EAW94789,BAG54554,BAG54586,AAI03952,AAI03953,AAI03954,AAI03955,Q3SY56 Hs.253603 EPFN|EPIPROFIN|KLF14|MGC119662|MGC119663|MGC119664|MGC119665 Kruppel-like factor 14|krueppel-like factor 14|transcription factor Sp6 protein-coding 736995 SP7 Sp7 transcription factor SP7 is a C2H2-type zinc finger transcription factor of the SP gene family and a putative master regulator of bone cell differentiation (Gao et al., 2004 [PubMed 15474293]).[supplied by OMIM] 727208,1580863 20579626,19079262,18932205,18829486,18777089,18495459,18482578,18471237,17352693,17311298,17303075,17206379,16467978,15489334,15474293,14604442,12674332,12477932,11792318,21078438,19019468,19453261,19801982,19927124,20200978 727208 121340 NG_023391,NM_152860,AC073611,CH471054,AF466179,AF477981,AK128520,AY150673,AY150674,BC101549,BC113613,NM_001173467 NP_690599,EAW96695,EAW96696,EAW96697,AAO33377,AAL84281,BAG54688,AAN85556,AAN85557,AAI01550,AAI13614,Q7Z718,Q8TDD2,ABZ92092,NP_001166938 Hs.209402 MGC126598|OSX|osterix transcription factor Sp7|zinc finger protein osterix protein-coding 1316919 SP8 Sp8 transcription factor 1580863 20339536,20386566,16344560,15533246,15489334,14702039,14597661,12477932,20211142,20634891 221833 NM_182700,NM_198956,AC005060,AC005251,CH236948,CH471073,AI632278,AK056857,AK290465,AK299947,AK307969,AY167047,AY167048,BC038669,DA492955 NP_874359,NP_945194,EAW93729,EAW93730,EAW93731,EAW93732,BAB71297,BAF83154,BAG61776,AAO38028,AAO38029,AAH38669,Q4G0T0,Q7Z615,Q8IXZ3 Hs.195922 BTD specificity protein 8|transcription factor Sp8 protein-coding 2303677 SP9 Sp9 transcription factor homolog (mouse) 15815621 100131390 NM_001145250,AC018470,CH471058 NP_001138722,EAX11147,P0CG40 Hs.516603 ZNF990 Sp9 transcription factor homolog|Transcription factor Sp9|transcription factor Sp9|zinc finger protein 990 protein-coding 1353517 SPA17 sperm autoantigenic protein 17 This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22. 1580863 8688458,18779750,17230514,16344560,15489334,15381930,15257753,14712480,14566839,12739786,12530914,12477932,12393185,12213290,11415432,10591629,9378618,7578682,7525387,19604394,19685492,19744347 53340 NM_017425,AF334810,AP000890,AP001524,CH471065,AF334735,AK307271,AK311806,BC019224,BC032457,CR602938,CR625142,DA511916 NP_059121,AAK28125,EAW67592,AAK20878,BAG34749,AAH19224,AAH32457,Q05D07,Q15506 Hs.286233 CT22|SP17|SP17-1 cancer/testis antigen 22|sperm protein 17|sperm surface protein Sp17 protein-coding 1351516 SPA17P1 sperm autoantigenic protein 17 pseudogene 1 12393185 171424 NG_001328,AC010997,AF335424 Sp17-2 pseudo 1344211 SPACA1 sperm acrosome associated 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq] 17903301,15489334,14574404,12477932,11870081,10898932,10735589,20424473 81833 NM_030960,AL136096,CH471051,AF203447,BC029488,HC007290 NP_112222,CAI19915,EAW48577,AAG31422,AAH29488,Q9HBV2,CBH19450 Hs.161241 MGC32952|SAMP32 sperm acrosomal membrane-associated protein 32|sperm acrosome membrane-associated protein 1 protein-coding 1315441 SPACA3 sperm acrosome associated 3 1580863 16150577,5154881,11591365,3470418,16014814,15489334,15475442,12975309,12606493,12477932 124912 NM_173847,AC003687,AF099029,CH471147,AF216311,AY358653,BC029867,BC100886,BC100887 NP_776246,AAP97222,EAW80217,EAW80218,AAK01478,AAQ89016,AAH29867,AAI00887,AAI00888,Q8IXA5 Hs.434112 1700025M08Rik|ALLP17|CT54|LYC3|LYZL3|MGC119058|SLLP1 OTTHUMP00000163797|OTTHUMP00000163798|cancer/testis antigen 54|lysozyme-like acrosomal sperm-specific secretory protein ALLP-17|lysozyme-like protein 3|lysozyme-like sperm-specific secretory protein ALLP17|sperm acrosome membrane-associated protein 3|sperm lysozyme like protein 1|sperm lysozyme-like protein 1|sperm protein reactive with ASA|sperm protein reactive with antisperm antibodies protein-coding 1343720 SPACA4 sperm acrosome associated 4 15489334,12975309,12788941,12477932 171169 AF353721,AY358387,BC047334,CS072277,NM_133498,AC022154,CH471177,HC007292,HC044583 CAI93415,AAL83950,AAQ88753,AAH47334,Q8TDM5,NP_598005,EAW52357,CBH19451,CBH30621 Hs.122599 SAMP14 sperm acrosomal membrane protein 14|sperm acrosomal membrane-associated protein 14|sperm acrosome membrane-associated protein 4 protein-coding 1346531 SPACA5 sperm acrosome associated 5 16382448,12975309 389852 NM_205856,AX359709,CH471164,Z98304,AF217622,AY358844,BX279755 NP_995328,CAD23344,EAW59341,CAC41950,AAQ13890,AAQ89203,Q96QH8 Hs.319319,Hs.712503 LYC5|LYZL5|SLLP2|SPACA5B|UNQ6288|dJ54B20.3 PNPK6288|SLLP-X|Sperm Lysozyme-Like Protein 2|lysozyme-like protein 5|sperm acrosome-associated protein 5|sperm-specific lysozyme-like protein X protein-coding 1603416 SPACA5B sperm acrosome associated 5B 16382448,15772651,12975309 729201 NM_001079900,AL356464,AF217622,AY358844 NP_001073369,CAI40526,AAQ13890,AAQ89203,Q96QH8 Hs.712503 SPACA5 SLLP-X|lysozyme-like protein 5|sperm acrosome-associated protein 5|sperm-specific lysozyme-like protein X protein-coding 1321762 SPAG1 sperm associated antigen 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq] 1580863 1299558,16983343,16368546,15489334,14702039,12846798,12509440,12477932,11517287,10527845,9138444,8889548,8849440 6674 NM_172218,NM_003114,AC025647,CH471060,AF311312,AK057482,BC055091,BM981630 NP_757367,NP_003105,EAW91800,EAW91801,EAW91802,EAW91803,EAW91804,EAW91805,EAW91806,AAG23967,BAG51920,AAH55091,Q07617 Hs.591866 FLJ32920|HSD-3.8|SP75|TPIS TPR-containing protein involved in spermatogenesis|infertility-related sperm protein Spag-1|sperm-associated antigen 1|tetratricopeptide repeat-containing protein protein-coding 1352459 SPAG10 sperm associated antigen 10 1580863 9546740 54740 Y11718 CAA72405,P78328 hP47 protein-coding 1604666 SPAG11A sperm associated antigen 11A 16421571,12477932,11259252,10698202,8167223 653423 NM_001081552,AC130365,AF168618,AF168619,AF168620,AF170797,BC058833,BC125141 NP_001075021,AAF37188,AAF37189,AAF37190,AAF37191,AAH58833,Q6PDA7 Hs.559506 EDDM2A|HE2 epididymal protein 2A|human epididymis-specific protein 2|sperm antigen HE2|sperm-associated antigen 11A protein-coding 1352554 SPAG11B sperm associated antigen 11B This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. 1580863 8167223,10698202,15229135,14662784,12477932,12193388,11259252,10819450,8418812,1693137,19535787 10407 AJ635328,NM_058202,NM_058200,NM_058201,NM_016512,NM_058207,NM_058206,NM_058203,AC130360,AY005129,AA694479,AF168616,AF168617,AJ628017 CAF31328,CAG25732,Q08648,Q9H4P9,NP_478109,NP_478107,NP_478108,NP_057596,NP_478114,NP_478113,NP_478110,AAG21878,AAG21879,AAG21880,AAG21881,AAG21882,AAG21883,AAG21884,AAG21885,AAG21886,AAF37186,AAF37187,AAI60085 Hs.2717 EDDM2B|EP2|EP2C|EP2D|HE2|HE2C|MGC61846|SPAG11 epididymal protein 2|epididymal protein 2B|human epididymis-specific protein 2|sperm antigen HE2|sperm associated antigen 11|sperm-associated antigen 11B protein-coding 1352269 SPAG16 sperm associated antigen 16 Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM] 1580863 17699735,15489334,14702039,12477932,12391165,11867345,15328412,20379614,20463177 79582 NM_001025436,AC008169,AC008279,AC009964,AC024246,AC064841,AC079610,AC092618,AC093042,AC096565,AC098486,AC107218,AC114499,AC125244,NM_024532,AC131096,CH471063,AF310672,AF426740,AF490390,AK026377,AK095036,AK302351,AK310883,AL832962,BC009614,BC025379,BC067756,BC100282,CR457359,CR596922,CR611626,CR749477 NP_078808,NP_001020607,AAX93092,AAY14888,AAY24171,AAX93264,AAX93125,AAX93063,AAY24242,EAW70515,AAM63956,AAN63530,AAM97147,BAB15466,BAC04481,BAG63677,CAH56274,AAH09614,Q53TL7,Q8N0X2,AAH25379,AAH67756,AAI00283,CAG33640,CAH18307,Q4G1A2,Q53QP6,Q53R35,Q53RF0,Q53RV6,Q53SC3,Q53TF1 Hs.602792,Hs.724575 DKFZp666P1710|FLJ22724|FLJ37717|MGC87036|PF20|WDR29 OTTHUMP00000206700|WD repeat domain 29|pf20 protein homolog|sperm-associated WD repeat protein|sperm-associated antigen 16 protein protein-coding 1601710 SPAG17 sperm associated antigen 17 20546612,19266077,19893584,18559567,18391952,16344560,15827353,14702039,12477932,20846217 200162 NM_206996,AL121993,AL139345,AL513191,AK091816,AK126319,AK126327,AL137581,AL833485,AY555274,BC043251,BX648110,DB060943,HM370394 AAI48428,NP_996879,CAI22736,CAI22740,CAI22956,CAI22957,CAH71478,BAC03753,BAG54308,CAB70823,AAS66753,Q6Q759,ADM86747 Hs.528821 DKFZp434B0610|FLJ34497|FLJ44343|FLJ44353|PF6|RP4-776P7.2 projection protein PF6 homolog|sperm-associated antigen 17 protein-coding 734255 SPAG4 sperm associated antigen 4 The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. [provided by RefSeq] 730131,1580863 9691178,14614621,12477932,11780052,11076863,10373309 730131 6676 NM_003116,AF043344,AF262993,AL109827,CH471077,AF262992,BC143783 NP_003107,AAC32052,AAF75268,CAB87609,CAI20118,EAW76191,AAF75267,Q9NPE6,AAI11379 Hs.123159 CT127|SUN4 OTTHUMP00000204168|SUN domain-containing protein 4|Sad1 and UNC84 domain containing 4|acrosomal protein ACR55|cancer/testis antigen 127|outer dense fiber-associated protein SPAG4|sperm antigen 4|sperm tail protein|sperm-associated antigen 4 protein protein-coding 1314928 SPAG4L sperm associated antigen 4-like 1580863 12621555,15489334,14702039,12477932,11988320,11780052,10373309,9691178,20237496 140732 NM_080675,AL121756,AL139826,CH471077,AF401350,AK097733,BC026118,BC029528,HC007294,HC044585 NP_542406,CAC29360,CAC29361,CAI22528,CAI16148,EAW76342,EAW76343,EAW76344,EAW76345,AAM90665,AAH26118,AAH29528,Q5TDX8,Q5TDX9,Q8TC36,CBH30622,CBH19452 Hs.375186 MGC33594|SPAG4L|TSARG4|dJ726C3.1 SUN domain-containing protein 5|sperm associated antigen 4-like|sperm-associated antigen 4-like protein|testis and spermatogenesis related gene 4|testis and spermatogenesis-related gene 4 protein protein-coding 736242 SPAG5 sperm associated antigen 5 This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq] 1580863 15504738,19197158,18055457,17383637,16565220,16546135,15489334,12477932,12356910,11724960,11549262,16169070,11468777,18361916,16343815,16713569,17664331,20508983,20852589 10615 NM_006461,AC005726,CH471159,AF063308,AF345347,AF399910,AK025725,AK292398,AL122116,AL137585,BC000322,BC113055,BI459711,BQ773438 NP_006452,EAW51106,AAD02813,AAL06396,AAK91712,BAF85087,CAB59275,CAB70827,AAH00322,AAI13056,Q96R06 Hs.514033 DEEPEST|MAP126|hMAP126 astrin|mitotic spindle associated protein p126|mitotic spindle coiled-coil related protein|mitotic spindle-associated protein p126|sperm-associated antigen 5 protein-coding 1313749 SPAG6 sperm associated antigen 6 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq] 1580863 10493827,16381901,15489336,15489334,15164054,12509440,12477932,12391165,12167721,11230166,11076863,10684790,9295136,9138444,11256614,16385451,20668334 9576 HM370395,NM_172242,AL158211,AL513128,CH471072,AF079363,AK289903,AK302194,AK310247,AL080136,BC030585,BI561430,CR533552,CR591720,NM_012443 ADM86748,NP_036575,NP_758442,CAI15961,CAI15962,CAI15963,CAH72208,CAH72209,CAH72210,EAW86143,EAW86144,EAW86145,EAW86146,EAW86147,AAC32590,BAF82592,BAG63556,CAB45730,AAH30585,CAG38583,O75602,CAL37552,CAL37576,ABM81842,ABM84993 Hs.655170 DKFZp434I153|MGC26276|Repro-SA-1|pf16 axoneme central apparatus protein|protein PF16 homolog|sperm flagellar protein|sperm-associated antigen 6 protein-coding 1313520 SPAG7 sperm associated antigen 7 1298632,1580863 18029348,14667819,15489334,15342556,12477932,9653160,7624517,11042152 1298632 9552 NM_004890,AC004771,AC109333,AF047437,AK123065,AK312174,BC007819,BC011934,BP308951,CR590004,CR598182 NP_004881,AAC39888,AAH11934,O75391 Hs.90436 ACRP|FSA-1|MGC20134 sperm-associated antigen 7 protein-coding 1316057 SPAG8 sperm associated antigen 8 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq] 16713569,19548270,8788182,17187156,15489334,15164053,15014887,12477932,11111873,11111865,10500252,9138444,8889548,20488182 26206 NM_172312,NM_001039592,AL133410,CH471071,AI028727,AK302313,BC019247,BI757195,CA314354,CR599473,S83157,U12978 NP_758516,NP_001034681,CAI10989,EAW58335,EAW58336,BAG63651,AAH19247,AAB46833,AAA21129,Q99932,ABM81724,ABW03304 Hs.256747 BS-84|HSD-1|MGC26201|SMP1|SPAG3|hSMP-1 OTTHUMP00000215542|OTTHUMP00000215544|OTTHUMP00000215545|sperm membrane protein 1|sperm membrane protein BS-84|sperm-associated antigen 8 protein-coding 1322667 SPAG9 sperm associated antigen 9 Extracellular signals are transduced into cells through mitogen-activated protein kinases. The structural organization of these kinases into specific signaling domains is facilitated by scaffolding proteins involved in closely tethering different kinases so that successive phosphorylation events can occur. The protein encoded by this gene is a scaffolding protein that brings together mitogen-activated protein kinases and their transcription factor targets for the activation of specific signaling pathways. This gene which is abundantly expressed in testicular haploid germ cells encodes a protein that is recognized by sperm-agglutinating antibodies and implicated in infertility. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 14743216,17353931,9480848,19056739,18922895,17081983,16959808,16356479,16112646,16077255,15693750,15489334,15302935,15144186,14702039,14662895,12477932,12391307,12168954,10557099,9628581,15923648,15987681,18826971,19596235,19644450,19820019,19947555,20138665 9043 AK024068,NM_003971,NM_001130528,AC005839,AC005920,CH471109,AB011088,AF327452,AF542172,AK023512,AK091921,AK129652,AK295098,AK299553,AK302789,AK307793,AK309214,AY219897,AY219898,AY236487,AY850123,BC007524,BC059946,BC106048,BC146755,BC153878,X91879 NP_003962,NP_001124000,EAW94569,EAW94570,EAW94571,EAW94572,EAW94573,EAW94574,BAA25442,AAN61565,AAQ11383,BAG51202,BAG58134,BAG61498,BAG63993,AAO66462,AAO66463,AAP74807,AAX47276,AAH07524,AAH59946,AAI06049,AAI46756,AAI53879,CAA62987,O60271,Q5JB53,Q719J0,Q7Z5Q8,BAB14812 Hs.463439 CT89|FLJ13450|FLJ14006|FLJ26141|FLJ34602|HLC-6|HLC4|HLC6|JIP-4|JIP4|JLP|KIAA0516|MGC117291|MGC14967|MGC74461|PHET|PIG6 C-Jun-amino-terminal kinase-interacting protein 4|JNK interacting protein|JNK/SAPK-associated protein|Max-binding protein|OTTHUMP00000221892|OTTHUMP00000221893|OTTHUMP00000221894|OTTHUMP00000221896|OTTHUMP00000221898|c-Jun NH2-terminal kinase-associated leucine zipper protein|cancer/testis antigen 89|human lung cancer oncogene 6 protein|lung cancer oncogene 4|mitogen-activated protein kinase 8-interacting protein 4|proliferation-inducing gene 6|protein highly expressed in testis|sperm surface protein|sunday driver 1 protein-coding 1347791 SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 1580863 20634891,8195297,15804358,12932297,12853948,12690205,12477932,11731269,11731267,11114590,10493834,8575780,8282124,8234258,2269661,16344560 6677 NM_003117,NM_153189,AC004690,CH236947,CH471070,AK292229,AY920278,AY920279,AY920280,AY920281,BC026163,BI831525,L13779,L13781,S67798,X84347,HC007296,HC470627,HC679018,DB023094,NM_001174044,NM_001174045,NM_001174046 NP_003108,NP_694859,AAQ96882,EAL24329,EAL24330,EAW83604,EAW83605,EAW83606,BAF84918,AAX13985,AAX13986,AAX13987,AAX13988,AAH26163,AAC60607,CAA59086,P38567,Q5D1J4,Q8TC30,ABM82583,ABM85770,CBH19453,CBL54474,CBL86562,NP_001167515,NP_001167516,NP_001167517 Hs.121494 HYA1|HYAL1|HYAL3|HYAL5|MGC26532|PH-20|PH20|SPAG15 OTTHUMP00000211901|OTTHUMP00000211952|hyal-PH20|hyaluronidase PH-20|hyaluronoglucosaminidase PH-20|sperm surface protein PH-20 protein-coding 1342995 SPANXA1 sperm protein associated with the nucleus, X-linked, family member A1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq] 1580863 10906052,16390498,16251457,15772651,15489334,14734458,12758128,12477932,11133693,20073942 30014 NM_013453,AL121881,AY787120,AY787123,CH471170,DQ994201,DQ994202,DQ994203,DQ994204,DQ994205,DQ994206,DQ994207,DQ994208,DQ994209,DQ994210,AF098306,AY920732,AY920733,AY920735,AY920736,AY920737,AY920738,AY920739,AY920741,AY920742,AY920743,AY920744,AY920745,AY920746,BC069393,BC069816 NP_038481,AAW47342,AAW47345,EAW78007,ABN68940,ABN68941,ABN68942,ABN68943,ABN68944,ABN68945,ABN68946,ABN68947,ABN68948,ABN68949,AAF28420,AAY16548,AAY16551,AAY16552,AAY16553,AAY16554,AAY16555,AAY16557,AAY16558,AAY16559,AAY16560,AAY16561,AAY16562,AAY16549,AAH69393,AAH69816,Q32WI7,Q32WJ6,Q32WM2,Q4KRI2,Q4KRP5,Q9NS26,AAI41463,AAI48760,CAI42369 Hs.334464 CT11.1|NAP-X|SPAN-Xa|SPAN-Xb|SPANX|SPANX-A2|SPANX-C|SPANX-D|SPANXA2|SPANXC|SPANXD SPAN-X|SPANX family member A|SPANX family, member A1|SPANX-A|cancer/testis antigen 11.1|cancer/testis antigen family 11, member 1|nuclear-associated protein SPAN-Xa|sperm protein associated with the nucleus on the X chromosome A|sperm protein associated with the nucleus, X chromosome, family member A1 protein-coding 1351593 SPANXA2 SPANX family, member A2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq] 12477932,11133693,10906052,20073942,16712791 728712 AJ457794,AL121881,AF098306,AI808260,AY920732,AY920733,AY920735,AY920736,AY920737,AY920738,AY920739,AY920741,AY920742,AY920743,AY920744,AY920745,AY920746,BC069393,BC069816,CB113891,NM_145662,DQ994201,DQ994202,DQ994203,DQ994204,DQ994205,DQ994206,DQ994207,DQ994208,DQ994209,DQ994210 NP_663695,CAD29843,AAF28420,AAY16548,AAY16549,AAY16551,AAY16552,AAY16553,AAY16554,AAY16555,AAY16557,AAY16558,AAY16559,AAY16560,AAY16561,AAY16562,AAH69393,AAH69816,CAD19068,ABZ92539,ABN68940,ABN68941,ABN68942,ABN68943,ABN68944,ABN68945,ABN68946,ABN68947,ABN68948,ABN68949,Q9NS26 Hs.334464,Hs.375036,Hs.711784 CT11.1|SPAN-X|SPANX|SPANX-A|SPANXA|SPANXA1 SPANX family member A|cancer/testis antigen 11.1|nuclear-associated protein SPAN-Xa|sperm protein associated with the nucleus on the X chromosome A|sperm protein associated with the nucleus, X chromosome, family member A2 protein-coding 1353572 SPANXB1 SPANX family, member B1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-tail orientation with SPANX family member B2, which appears to be a duplication of the B1 locus. The SPANXB genes are unique members of this gene family, since they contain an additional 18 nt in their coding region compared to the majority of family members. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq] 1580863 15489334,19417550,20073942,18626316,16251457,12393489,11133693,10906052,12758128,12477932 728695 AL031078,AY787057,AY787058,AY787059,AY787060,AY787061,AY787062,AY787063,AY787064,AY787065,AY787066,AY787067,AY787068,AY787069,AY787070,NM_032461,AY787071,AY787072,AY787073,AY787074,AY787075,AY787076,AY787077,AY787078,AY787079,AY787080,AY787081,AY787082,AY787083,AY787085,AY787090,AY787092,AY787127,AY787130,AY787632,AF098307,BC034472,BC137533,BC137536 NP_115850,CAI42717,AAW47348,AAW47349,AAW47350,AAW47351,AAW47352,AAW47353,AAW47354,AAW47355,AAW47356,AAW47357,AAW47358,AAW47359,AAW47360,AAW47361,AAW47362,AAW47363,AAW47364,AAW47365,AAW47366,AAW47367,AAW47368,AAW47369,AAW47370,AAW47371,AAW47372,AAW47373,AAW47374,AAW47375,AAW47376,AAW47377,AAW47380,AAW47382,AAW47383,AAF28421,AAH34472,AAI37534,AAI37537,Q32WN1,Q9NS25,ABM83256,ABM86460 Hs.434105,Hs.711489 B1|CT11.2|SPANX-B|SPANXB|SPANXB2|SPANXF1 SPAN-Xf|SPANX family member B/F|SPANX-F|cancer/testis antigen 11.2|cancer/testis antigen family 11, member 2|nuclear-associated protein SPAN-Xb|nuclear-associated protein SPAN-Xf|sperm protein associated with the nucleus on the X chromosome B/F|sperm protein associated with the nucleus, X chromosome, family member B1 protein-coding 1343530 SPANXB2 SPANX family, member B2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-tail orientation with SPANX family member B1 and appears to be a duplication of that locus. The SPANXB genes are unique members of this gene family, since they contain an additional 18 nt in their coding region compared to the majority of family members. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq] 20073942,10906052,17342728,16251457,15772651,15489334,12758128,12477932,11133693 100133171 NM_145664,AJ457789,AL031078,AX972163,CH881887,AF098307,BC034472,BC137533,BC137536 NP_663697,CAD29838,CAI42718,CAF17271,EAW50544,AAF28421,AAH34472,AAI37534,AAI37537,Q9NS25 Hs.434105,Hs.711489 SPANX|SPANXB|SPANXB1|SPANXF1 CT11.2|SPAN-Xb protein|SPAN-Xf|SPANX family member B/F|SPANX family member B1|SPANX-B|SPANX-C|SPANX-F|cancer/testis antigen 11.2|hCG2036708|nuclear-associated protein SPAN-Xb|nuclear-associated protein SPAN-Xf|sperm protein associated with the nucleus on the X chromosome B/F|sperm protein associated with the nucleus, X chromosome, family member B2 protein-coding 1350633 SPANXC SPANX family, member C Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq] 1580863 10626816,18626316,16251457,15489334,15139967,12758128,12477932,11133693,9373149,8125298,19417550,20073942,17207965 64663 AY787087,AY787093,AY787094,AY787097,AY787101,AY787112,AY787115,AY787117,AY787118,AY787129,DQ994212,DQ994226,DQ994230,DQ994232,EF101643,EF101650,NM_022661,AJ457790,AL109799,AY787084,AY787088,AY787089,AY787091,AY787095,AY787098,AY787099,AY787100,AY787103,AY787105,AY787106,AY787107,AY787108,AY787109,AY787111,AY787113,AY787114,AY787116,AY787121,AY787122,AY787124,DQ994213,DQ994215,DQ994216,DQ994221,DQ994223,DQ994224,DQ994225,DQ994227,DQ994228,DQ994229,DQ994231,DQ994236,DQ994237,DQ994238,DQ994239,EF101641,EF101644,EF101645,EF101646,EF101651,EF101654,EF101656,EF101659,AA412605,AJ238277,AK225988,BC054023 AAW47311,AAW47315,AAW47316,AAW47319,AAW47323,AAW47334,AAW47337,AAW47339,AAW47340,AAW47347,ABK19853,ABK19867,ABK19871,ABK19873,ABK96950,ABK96957,NP_073152,CAD29839,CAI41662,AAW47309,AAW47312,AAW47313,AAW47314,AAW47317,AAW47320,AAW47321,AAW47322,AAW47325,AAW47327,AAW47328,AAW47329,AAW47330,AAW47331,AAW47333,AAW47335,AAW47336,AAW47338,AAW47343,AAW47344,AAW47346,ABK19854,ABK19856,ABK19857,ABK19862,ABK19864,ABK19865,ABK19866,ABK19868,ABK19869,ABK19870,ABK19872,ABK19877,ABK19878,ABK19879,ABK19880,ABK96948,ABK96951,ABK96952,ABK96953,ABK96958,ABK96961,ABK96963,ABK96966,CAB75344,AAH54023,A0FGV1,A0FGV4,A0FGW6,A0FGX0,Q9NY87,ADQ32125 Hs.558533 C|CT11.3|CTp11|SPANX-C SPAN-Xc protein|cancer-testis-associated protein CTp11|cancer/testis antigen 11.3|cancer/testis antigen family 11, member 3|cancer/testis-associated protein CTp11|cancer/testis-associated protein of 11 kD|nuclear-associated protein SPAN-Xc|sperm protein associated with the nucleus on the X chromosome C|sperm protein associated with the nucleus, X chromosome, family member C protein-coding 1347946 SPANXD SPANX family, member D Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. [provided by RefSeq] 1580863 16251457,12758128,12477932,11133693,20073942 64648 AJ457791,AL121881,AY920931,AY920933,AY920934,AY920935,AY920936,AY920937,AY920939,AY920940,AY920941,AY920942,AY920943,AY920944,AY920945,AY920946,AY920947,AY920948,AY920949,AY920950,AY920951,AY920952,AY920953,AY920954,AY920955,AY920956,AY920957,AY920958,AY920959,AY920960,AY920961,AY920962,AY920963,AY920965,AY920966,AY920967,AY920968,AY920969,AY920970,AY920971,AY920972,AY920973,AY920974,AY920975,AY920976,AY920977,AY920978,AY920979,AY920980,AY920981,AY920982,AY920985,AY920986,AY920987,AF312765,BC103961,BC121070,BC134418,NM_032417,AY920734,AY920932,AY920938,AY920964,AY920983,AY920984 CAD29840,CAI42368,AAY18634,AAY18636,AAY18637,AAY18638,AAY18639,AAY18640,AAY18642,AAY18643,AAY18644,AAY18645,AAY18646,AAY18647,AAY18648,AAY18649,AAY18650,AAY18651,AAY18652,AAY18653,AAY18654,AAY18655,AAY18656,AAY18657,AAY18658,AAY18659,AAY18660,AAY18661,AAY18662,NP_115793,AAY18663,AAY18664,AAY18665,AAY18666,AAY18668,AAY18669,AAY18670,AAY18671,AAY18672,AAY18673,AAY18674,AAY18675,AAY18676,AAY18677,AAY18678,AAY18679,AAY18680,AAY18681,AAY18682,AAY18683,AAY18684,AAY18685,AAY18688,AAY18689,AAY18690,AAK28485,AAI03962,AAI21071,AAI34419,Q4KRK2,Q4KRM8,Q4KRN4,Q4KRP2,Q9BXN6,AAY16550,AAY18635,AAY18641,AAY18667,AAY18686,AAY18687,Q4KRP8 Hs.375036 CT11.4|MGC119769|SPANX-D|dJ171K16.1 SPAN-Xd protein|cancer/testis antigen 11.4|cancer/testis antigen family 11, member 4|nuclear-associated protein SPAN-Xd|sperm protein associated with the nucleus on the X chromosome D|sperm protein associated with the nucleus, X chromosome, family member D protein-coding 1345465 SPANXE SPANX family, member E Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that contains a consensus nuclear localization signal but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. [provided by RefSeq] 1580863 20073942,16251457,15489334,12758128,12477932,11133693 171489 EF101636,EF101639,EF101642,EF101647,EF101648,EF101649,EF101652,EF101653,EF101657,EF101658,AJ457795,AY920740,BC005382,BC062672,AJ457792,AL121881,AY787086,AY787096,AY787102,AY787104,AY787110,AY787119,DQ994211,DQ994214,DQ994217,DQ994218,DQ994219,DQ994220,DQ994233,DQ994234,DQ994235,EF101635,NM_145665 ABK96942,ABK96943,ABK96946,ABK96949,ABK96954,ABK96955,ABK96956,ABK96959,ABK96960,ABK96964,ABK96965,CAD29844,AAY16556,AAH05382,AAH62672,Q8TAD1,NP_663698,CAD29841,AAW47310,AAW47318,AAW47324,AAW47326,AAW47332,AAW47341,ABK19852,ABK19855,ABK19858,ABK19859,ABK19860,ABK19861,ABK19874,ABK19875,ABK19876,Q4KRP2 Hs.375036 MGC71908|SPANX-A2|SPANX-C|SPANX-D|SPANXA2|SPANXD SPAN-Xe protein|SPANX-E|nuclear-associated protein SPAN-Xe|sperm protein associated with the nucleus on the X chromosome E|sperm protein associated with the nucleus, X chromosome, family member E protein-coding 1601817 SPANXF1 SPANX family, member F1 171490 NM_139019,AJ457793,AJ457796 NP_620588,CAD29842,CAD29845,Q9NS25 Hs.434105 SPANXB1|SPANXB2 CT11.2|SPAN-Xf|SPANX family member B/F|SPANX family member B1|SPANX-B|SPANX-F|cancer/testis antigen 11.2|nuclear-associated protein SPAN-Xb|nuclear-associated protein SPAN-Xf|sperm protein associated with the nucleus on the X chromosome B/F protein-coding 1349351 SPANXF2 SPANX family, member F2 171491 AL451048 1606621 SPANXN1 SPANX family, member N1 17012309,14973187 494118 NM_001009614,AL356499,AL713923,AY825029,DQ336118,DQ336119,DQ336120,DQ336121,NG_021225 NP_001009614,CAI42585,CAH70536,AAV97585,ABC61869,ABC61870,ABC61871,ABC61872,Q5VSR9 Hs.551270 CT11.6|SPANX-N1 cancer/testis antigen family 11, member 6|nuclear-associated protein SPAN-Xn1|sperm protein associated with the nucleus on the X chromosome N1 protein-coding 1606620 SPANXN2 SPANX family, member N2 17012309,14973187 494119 AL080239,AY825030,DQ336111,DQ336112,DQ336113,DQ336114,DQ336115,NM_001009615 CAI41652,AAV97586,ABC61862,ABC61863,ABC61864,ABC61865,ABC61866,Q5MJ10,AAI46379,AAI46547,NP_001009615 Hs.535083 CT11.7|SPANX-N2 cancer/testis antigen family 11, member 7|nuclear-associated protein SPAN-Xn2|sperm protein associated with the nucleus on the X chromosome N2 protein-coding 1603581 SPANXN3 SPANX family, member N3 17012309,14973187,12477932 139067 NM_001009609,AL030997,AL080239,AY825031,CH471170,BC062750,DQ336128,DQ336129 NP_001009609,CAI42274,CAI41648,AAV97587,EAW78017,AAH62750,ABC61879,ABC61880,Q5MJ09 Hs.447320 CT11.8|SPANX-N3 cancer/testis antigen family 11, member 8|nuclear-associated protein SPAN-Xn3|sperm protein associated with the nucleus on the X chromosome N3 protein-coding 1604672 SPANXN4 SPANX family, member N4 17012309,14973187,12477932 441525 NM_001009613,AL137840,AY825032,BC130503,BC130505,DQ336126,DQ336127,NG_013264 NP_001009613,CAH71622,AAV97588,AAI30504,AAI30506,ABC61877,ABC61878,Q5MJ08,ADR83315 Hs.535082 CT11.9|SPANX-N4 cancer/testis antigen family 11, member 9|nuclear-associated protein SPAN-Xn4|sperm protein associated with the nucleus on the X chromosome N4 protein-coding 1606617 SPANXN5 SPANX family, member N5 17012309,14973187 494197 AY825033,AL039107,NM_001009616,AL445236 CAI41620,AAV97589,Q5MJ07,AAI46365,AAI56578,NP_001009616 Hs.535218 CT11.10|SPANX-N5 cancer/testis antigen family 11, member 10|nuclear-associated protein SPAN-Xn5|sperm protein associated with the nucleus on the X chromosome N5 protein-coding 1350741 SPAR surfactant protein A binding protein 1580863 8360162 9981 L10123 AAA36632,Q15509 SFTPABP protein-coding 731035 SPARC secreted protein, acidic, cysteine-rich (osteonectin) Secreted protein acidic and rich in cysteine/osteonectin/BM40, or SPARC, is a matrix-associated protein that elicits changes in cell shape, inhibits cell-cycle progression, and influences the synthesis of extracellular matrix (ECM) (Bradshaw et al., 2003 [PubMed 12721366]).[supplied by OMIM] 2300051,2300070,2300025,2300062,2300063,2300071,2300027,2300030,2300026,2300072,2300058,2300024,2300019,2300022,2300069,2300056,2300020,2300021,2300052,1580863 19913121,20628086,20628624,20673868,7034958,1737102,14718574,19453261,19177197,18949063,18813945,18813349,18796407,18583538,18487610,18442089,18442048,18410576,18367635,18350569,18253934,18084690,18059024,17994631,17970686,17724718,17681430,17638862,17625595,17586526,17490812,17487382,17435158,17397030,17343824,17235047,17213807,17022822,16972886,16735494,16670288,16299239,16263253,16173048,16121393,16012759,15838642,15795937,15763439,15763438,15756262,15641096,15609325,15558074,15546965,15489334,15480132,15469933,15389586,15246191,15034927,15014008,14702039,12879219,12867428,12721366,12658547,12477932,12428242,12427131,12402984,12370830,12201246,12169206,11956183,11856645,11782382,11716067,11554745,11445660,10937551,10880278,10801822,10756178,10567433,9792673,9501084,9457905,9284812,9233787,8826089,8647860,8626499,8548457,8516290,7982919,7875683,7829101,7730416,7721952,7563094,7559469,6368555,3597437,3581152,3489235,3410046,3402455,3400777,2838412,2790009,2745554,2505905,20606036,20339379,21173124,19236378,20132490,14500371,2338025,20070483,2306517,1552170,1311092,1093755,19403984,19448421,19509023,19597474,19661316,19700761,19703125,19780053,19817957,19830689,19900269,19920824,20061390,20087345,20195270,20452482,20393008,20525171,20565704,18787407,20338068,20607658,20210803,21042566 2300051,2300070,2300025,2300062,2300063,2300071,2300027,2300030,2300026,2300072,2300058,2300024,2300019,2300022,2300069,2300056,2300020,2300021,2300052 6678 NM_003118,AC011374,CH471062,M25746,AK096969,AK299441,AK315591,AY545555,BC004974,BC008011,BC072457,CR456799,CR590539,CR591920,CR592148,CR592746,CR593385,CR595836,CR597190,CR598169,CR598340,CR602678,CR603121,CR604100,CR604469,CR604596,CR605054,CR606233,CR609302,CR609946,CR610277,CR611574,CR611642,CR611817,CR611867,CR612102,CR612789,CR613247,CR613457,CR615120,CR615879,CR616783,CR617910,CR619039,CR622084,CR623565,CR623752,CR625661,CR625859,CR626474,J03040,Y00755 NP_003109,EAW61667,EAW61668,EAW61669,EAW61670,EAW61671,EAW61672,AAA60993,BAG61416,BAG37963,AAS50152,AAH04974,AAH08011,AAH72457,CAG33080,AAA60570,CAA68724,P09486,Q6QE20,ABM84341,ABM87733 Hs.708558,Hs.111779 ON BM-40|SPARC|basement-membrane protein 40|cysteine-rich protein|osteonectin|secreted protein acidic and rich in cysteine protein-coding 736595 SPARCL1 SPARC-like 1 (hevin) 1580863 20029029,18384059,18381651,17825989,16844696,16335952,16316624,15231748,15146195,12538579,12477932,10735494,8626806,8488563,7600298,19834535,20237496 8404 NM_004684,NM_001128310,AC093906,AC112250,CH471057,AK294335,AK298039,AK300956,AK304494,AK304628,AK316533,AL833430,AY513278,BC010383,BC022484,BC033721,BX647713,CR603739,CR624121,DC403565,DC421365,X82157,X86693 NP_004675,NP_001121782,EAX05991,EAX05992,BAG57605,BAG60338,BAG62584,BAG65302,BAG65409,BAH14904,AAT08031,AAH33721,CAA57650,CAA60386,Q14515,Q8N4S1,ACE87844,ACT64358 Hs.62886 PIG33|SC1 MAST 9|OTTHUMP00000219654|SPARC-like 1 (mast9, hevin)|SPARC-like protein 1|hevin|high endothelial venule protein|mast9|proliferation-inducing protein 33|sparc-like 1 protein-coding 1318293 SPAST spastin This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq] 1580863,1358585 15716377,16219033,17389232,10610178,19289482,19141076,19084842,19000169,18997780,18701882,18664244,18613979,18401025,18337300,18202664,18190593,17971434,17957230,17916079,17895902,17720546,17690846,17598600,17597328,17594340,17560499,17420921,17407089,17345589,17100993,17098887,17035675,16828199,16826525,16815977,16788734,16684598,16682546,16602018,16339213,16240363,16055926,16026783,16009903,15939438,15891913,15858810,15841487,15739043,15537668,15482961,15345747,15326248,15269182,15248095,15210521,15159500,15147984,14732620,14681884,14656074,14506940,12939659,12925368,12876245,12778437,12743246,12736085,12676568,12552568,12490534,12471215,12460147,12202986,12163196,12161613,12124993,12023066,11985387,11843700,11809724,11704932,11309678,11087788,11039577,11015453,10980739,10699187,10493830,10470851,20559269,20154342,20562464,19039240,19423133,19620182,19652142,19730024,19875132,19939411,20200447,20214791,20430936,20718791,20734064,20843780 1358585 6683 NM_199436,NG_008730,AJ246003,AL121655,AL121658,CH471053,AA830062,AB029006,AJ246001,AK304135,BC150260,BG532310,NM_014946,HQ205746,HQ205747,HQ205748,HQ205749,HQ205750,HQ205751,HQ205752,HQ205753,HQ205754,HQ205755,HQ205756,HQ205757,HQ205758,HQ205759,HQ205760,HQ205761,HQ205762,HQ205763,HQ205764,HQ205765,HQ205766,HQ205767,HQ205768,HQ205769,HQ205770,HQ205771,HQ205772,HQ205773,HQ205774,HQ205775,HQ205776,HQ205777,HQ205778,HQ205779,HQ205780,HQ205781,HQ205782,HQ205783,HQ205784,HQ205785 NP_055761,NP_955468,CAB60208,EAX00461,EAX00462,BAA83035,CAB60141,BAG65029,AAI50261,Q9UBP0,ADP91574,ADP91575,ADP91576,ADP91577,ADP91578,ADP91579,ADP91580,ADP91581,ADP91582,ADP91583,ADP91584,ADP91585,ADP91586,ADP91587,ADP91588,ADP91589,ADP91590,ADP91591,ADP91592,ADP91593,ADP91594,ADP91595,ADP91596,ADP91597,ADP91598,ADP91599,ADP91600,ADP91601,ADP91602,ADP91603,ADP91604,ADP91605,ADP91606,ADP91607,ADP91608,ADP91609,ADP91610,ADP91611,ADP91612,ADP91613,ADP91614,ADP91615,ADP91616,ADP91617,ADP91618,ADP91619,ADP91620,ADP91621,ADP91622,ADP91623,ADP91624,ADP91625,ADP91626,ADP91627,ADP91628,ADP91629,ADP91630,ADP91631,ADP91632,ADP91633,ADP91634,ADP91635,ADP91636,ADP91637,ADP91638,ADP91639,ADP91640,ADP91641,ADP91642,ADP91643,ADP91644,ADP91645,ADP91646,ADP91647,ADP91648,ADP91649,ADP91650,ADP91651,ADP91652,ADP91653 Hs.468091 ADPSP|FSP2|KIAA1083|SPG4 spastic paraplegia 4 (autosomal dominant; spastin)|spastic paraplegia 4 protein|spastin protein-coding 1353083 SPATA1 spermatogenesis associated 1 12477932,11329013 64173 NM_001081472,AL359762,CH471097,AF306347,BC064144,BC119641,BC119642,BC127634,BG184610,CD300599,NR_036561 NP_001074941,CAH70205,CAM13069,EAW73234,EAW73235,AAG22047,AAI19642,AAI19643,AAI27635,Q5VX52 Hs.584956 SP-2|SPAP1 OTTHUMP00000011572|sperm-specific protein SP-2|spermatogenesis associated protein 1|spermatogenesis-associated protein 1 pseudo 1353232 SPATA12 spermatogenesis associated 12 17251597,15603706,15490870,15489334,12477932 353324 NM_181727,AC097358,CH471055,AY221117,BC033337,BC126274,BC136498,HC007300 NP_859078,EAW65328,AAP50852,AAH33337,AAI26275,AAI36499,Q0P657,Q7Z6I5,CBH19455,ADR83499 Hs.129794 SRG5 spermatogenesis-associated protein 12|spermatogenesis-related protein 5 protein-coding 1316520 SPATA13 spermatogenesis associated 13 1580863 16344560,19151759,19910543,19934221,17599059,17145773,15489334,15057823,14702039,12477932 221178 DB221004,NM_001166271,AK301149,AK307528,BC109290,BC109291,BK006072,BX648244,NM_153023,AL359736,CH471075,AK055770,AK074117,AK092754,AK097217,AK123031,AK160371,AK297394,AK298717,AK299981,AK025586,AL049335 NP_001159743,Q5VX67,BAG62740,AAI09291,AAI09292,DAA05848,Q5VX68,Q96N96,NP_694568,CAH72289,CAH72290,CAH72291,EAX08331,EAX08332,BAB71009,BAB84943,BAC04977,BAG53856,BAD18714,BAG59834,BAG60873,BAG61802 Hs.595391 ARHGEF29|ASEF2|FLJ31208|FLJ35435|MGC129988|MGC129989|RP11-307N16.3 OTTHUMP00000205783|OTTHUMP00000205784|OTTHUMP00000205785|OTTHUMP00000205786|adenomatous polyposis coli stimulated exchange factor 2|spermatogenesis-associated protein 13 protein-coding 1351808 SPATA16 spermatogenesis associated 16 737633,1580863 17847006,17665087,16372119,16344560,14702039,12529416,12477932,20379614 737633 83893 NM_031955,AC063933,DQ141879,DQ142469,DQ142470,DQ142471,DQ142472,DQ142473,DQ142474,DQ142475,DQ142476,DQ142477,DQ142478,DQ142479,DQ142480,DQ142481,DQ142482,DQ142483,DQ142495,DQ142496,DQ142497,DQ142498,DQ142499,DQ142500,DQ142501,DQ142502,DQ142503,DQ142504,DQ142505,DQ142506,DQ142507,DQ142508,DQ142509,DQ142510,DQ142511,DQ142512,DQ142513,DQ142514,DQ142515,DQ142516,DQ142517,DQ142518,DQ142519,DQ142520,DQ142521,DQ142522,DQ142523,DQ142524,DQ142525,DQ142527,DQ142528,DQ142529,DQ142530,DQ142531,DQ142532,DQ142533,DQ142534,DQ142535,DQ142536,DQ142537,DQ142538,DQ142539,DQ142540,DQ142541,DQ142542,DQ142543,DQ142544,DQ142545,DQ142546,DQ142547,DQ142548,DQ142549,DQ142526,DQ142551,DQ142552,DQ142553,DQ142554,DQ142596,DQ142597,DQ142598,DQ142599,DQ142600,DQ142601,DQ142602,DQ142603,DQ142604,DQ142605,DQ142606,DQ142607,DQ142608,DQ142609,DQ142610,DQ142611,DQ142612,DQ142613,DQ142614,DQ142615,DQ142616,DQ142617,DQ142618,DQ142619,DQ142620,DQ142584,DQ142585,DQ142586,DQ142587,DQ142588,DQ142589,DQ142590,DQ142591,DQ142592,DQ142593,DQ142594,DQ142595,DQ142555,DQ142556,DQ142557,DQ142558,DQ142559,DQ142560,DQ142561,DQ142568,DQ142569,DQ142570,DQ142571,DQ142572,DQ142573,DQ142574,DQ142575,DQ142576,DQ142577,DQ142578,DQ142579,DQ142580,DQ142581,DQ142582,DQ142583,DQ142621,DQ142622,DQ142623,DQ142624,DQ142625,DQ142626,DQ142627,DQ142628,DQ142629,DQ142630,DQ142631,DQ142632,DQ142633,DQ142634,DQ142635,DQ142636,DQ142637,DQ142638,DQ142639,AF345909,AF404758,AK093041,BC034496,DB040560,AC092948,DQ141878,DQ141880,DQ142468,DQ142491,DQ142550,DQ141866,DQ141867,DQ141868,DQ141869,DQ141870,DQ141871,DQ141872,DQ141873,DQ141874,DQ141875,DQ141876,DQ141877,CH471052,DQ141881,DQ141882,DQ141883,DQ141884,DQ141885,DQ141886,DQ141887,DQ141888,DQ141889,DQ141890,DQ141891,DQ141892,DQ141893,DQ141894,DQ141895,DQ141896,DQ141897,DQ141898,DQ141899,DQ141900,DQ141901,DQ141902,DQ141904,DQ141905,DQ141906,DQ141907,DQ141908,DQ141909,DQ141910,DQ141911,DQ141912,DQ141913,DQ141914,DQ141915,DQ141916,DQ141917,DQ141918,DQ141919,DQ141920,DQ141921,DQ141922,DQ141923,DQ141924,DQ141925,DQ141926,DQ141927,DQ141928,DQ141929,DQ141930,DQ141931,DQ141932,DQ141933,DQ141934,DQ141935,DQ141936,DQ141937,DQ141944,DQ141945,DQ141946,DQ141947,DQ141948,DQ141949,DQ141950,DQ141951,DQ141952,DQ141953,DQ141954,DQ141955,DQ141903,DQ142392,DQ142393,DQ142394,DQ142395,DQ142396,DQ142397,DQ142398,DQ142399,DQ142400,DQ142401,DQ142402,DQ142403,DQ142404,DQ142405,DQ142412,DQ142413,DQ142414,DQ142415,DQ142416,DQ142417,DQ142418,DQ142419,DQ142420,DQ142421,DQ142422,DQ142423,DQ142424,DQ142425,DQ142426,DQ142427,DQ142428,DQ142429,DQ142430,DQ142431,DQ142432,DQ142433,DQ142434,DQ142435,DQ142436,DQ142437,DQ142438,DQ142439,DQ142391,DQ141957,DQ141958,DQ141959,DQ141960,DQ141961,DQ141962,DQ141963,DQ141964,DQ141965,DQ141966,DQ141967,DQ141968,DQ141969,DQ141970,DQ141971,DQ141972,DQ141973,DQ141974,DQ141975,DQ141976,DQ141977,DQ141978,DQ141979,DQ141980,DQ141981,DQ141982,DQ141983,DQ141984,DQ141985,DQ141986,DQ141956,DQ142341,DQ142342,DQ142343,DQ142344,DQ142345,DQ142346,DQ142347,DQ142348,DQ142349,DQ142350,DQ142351,DQ142352,DQ142353,DQ142354,DQ142355,DQ142356,DQ142357,DQ142358,DQ142359,DQ142360,DQ142361,DQ142362,DQ142363,DQ142364,DQ142365,DQ142366,DQ142367,DQ142368,DQ142369,DQ142370,DQ142371,DQ142372,DQ142373,DQ142374,DQ142375,DQ142376,DQ142377,DQ142378,DQ142379,DQ142380,DQ142381,DQ142382,DQ142383,DQ142384,DQ142385,DQ142386,DQ142387,DQ142388,DQ142389,DQ142390,DQ141987,DQ141988,DQ141989,DQ141990,DQ141991,DQ141992,DQ141993,DQ141994,DQ141995,DQ141996,DQ141997,DQ141998,DQ141999,DQ142000,DQ142001,DQ142002,DQ142003,DQ142004,DQ142005,DQ142006,DQ142007,DQ142008,DQ142009,DQ142010,DQ142011,DQ142012,DQ142013,DQ142014,DQ142015,DQ142022,DQ142023,DQ142024,DQ142025,DQ142026,DQ142027,DQ142028,DQ142029,DQ142030,DQ142031,DQ142032,DQ142061,DQ142062,DQ142063,DQ142064,DQ142065,DQ142066,DQ142067,DQ142068,DQ142069,DQ142070,DQ142071,DQ142072,DQ142073,DQ142074,DQ142075,DQ142076,DQ142077,DQ142078,DQ142060,DQ142109,DQ142110,DQ142111,DQ142112,DQ142113,DQ142114,DQ142115,DQ142116,DQ142117,DQ142118,DQ142119,DQ142120,DQ142121,DQ142122,DQ142123,DQ142124,DQ142125,DQ142126,DQ142127,DQ142128,DQ142108,DQ142187,DQ142188,DQ142189,DQ142190,DQ142191,DQ142192,DQ142193,DQ142194,DQ142195,DQ142196,DQ142197,DQ142198,DQ142199,DQ142200,DQ142201,DQ142202,DQ142203,DQ142204,DQ142205,DQ142206,DQ142207,DQ142208,DQ142209,DQ142210,DQ142211,DQ142212,DQ142213,DQ142214,DQ142215,DQ142216,DQ142217,DQ142218,DQ142186,DQ142130,DQ142131,DQ142132,DQ142133,DQ142134,DQ142135,DQ142136,DQ142137,DQ142138,DQ142139,DQ142140,DQ142141,DQ142142,DQ142143,DQ142144,DQ142145,DQ142146,DQ142147,DQ142148,DQ142149,DQ142129,DQ142220,DQ142221,DQ142222,DQ142223,DQ142224,DQ142225,DQ142226,DQ142227,DQ142228,DQ142229,DQ142230,DQ142231,DQ142232,DQ142233,DQ142234,DQ142235,DQ142236,DQ142237,DQ142238,DQ142239,DQ142240,DQ142241,DQ142242,DQ142243,DQ142244,DQ142245,DQ142246,DQ142247,DQ142248,DQ142249,DQ142256,DQ142219,DQ142034,DQ142035,DQ142036,DQ142037,DQ142038,DQ142039,DQ142040,DQ142041,DQ142042,DQ142043,DQ142044,DQ142045,DQ142046,DQ142047,DQ142048,DQ142049,DQ142050,DQ142051,DQ142052,DQ142053,DQ142054,DQ142055,DQ142056,DQ142057,DQ142058,DQ142059,DQ142033,DQ142151,DQ142152,DQ142153,DQ142154,DQ142155,DQ142156,DQ142157,DQ142158,DQ142159,DQ142160,DQ142161,DQ142162,DQ142163,DQ142164,DQ142165,DQ142166,DQ142167,DQ142168,DQ142169,DQ142170,DQ142171,DQ142178,DQ142179,DQ142180,DQ142181,DQ142182,DQ142183,DQ142184,DQ142185,DQ142150,DQ142079,DQ142080,DQ142081,DQ142082,DQ142083,DQ142084,DQ142085,DQ142086,DQ142087,DQ142088,DQ142089,DQ142090,DQ142091,DQ142092,DQ142093,DQ142100,DQ142101,DQ142102,DQ142103,DQ142104,DQ142105,DQ142106,DQ142107,DQ142257,DQ142258,DQ142259,DQ142260,DQ142261,DQ142262,DQ142263,DQ142264,DQ142265,DQ142266,DQ142267,DQ142268,DQ142269,DQ142270,DQ142271,DQ142272,DQ142273,DQ142274,DQ142275,DQ142276,DQ142277,DQ142278,DQ142279,DQ142280,DQ142281,DQ142282,DQ142283,DQ142284,DQ142285,DQ142286,DQ142287,DQ142288,DQ142289,DQ142290,DQ142291,DQ142292,DQ142293,DQ142294,DQ142295,DQ142296,DQ142297,DQ142298,DQ142299,DQ142300,DQ142301,DQ142302,DQ142303,DQ142304,DQ142306,DQ142307,DQ142308,DQ142309,DQ142310,DQ142311,DQ142312,DQ142313,DQ142314,DQ142315,DQ142316,DQ142317,DQ142318,DQ142319,DQ142320,DQ142321,DQ142322,DQ142323,DQ142324,DQ142325,DQ142326,DQ142327,DQ142334,DQ142335,DQ142336,DQ142337,DQ142338,DQ142339,DQ142340,DQ142305,DQ142441,DQ142442,DQ142443,DQ142444,DQ142445,DQ142446,DQ142447,DQ142448,DQ142449,DQ142450,DQ142451,DQ142452,DQ142453,DQ142454,DQ142455,DQ142456,DQ142457,DQ142458,DQ142459,DQ142460,DQ142461,DQ142462,DQ142463,DQ142464,DQ142465,DQ142466,DQ142467,DQ142440,BI829426,NG_021422 NP_114161,ABA27460,ABA27459,ABA28152,ABA28153,ABA28154,ABA28155,ABA28156,ABA28157,ABA28158,ABA28159,ABA28160,ABA28161,ABA28162,ABA28163,ABA28164,ABA28165,ABA28166,ABA28151,ABA27956,ABA27957,ABA27958,ABA27959,ABA27960,ABA27961,ABA27962,ABA27963,ABA27964,ABA27965,ABA27966,ABA27967,ABA27968,ABA27969,ABA27970,ABA27971,ABA27972,ABA27973,ABA27974,ABA27975,ABA27976,ABA27977,ABA27978,ABA27979,ABA27980,ABA27981,ABA27982,ABA27983,ABA27984,ABA27985,ABA27987,ABA27988,ABA27989,ABA27990,ABA27991,ABA27992,ABA27993,ABA27994,ABA27995,ABA27996,ABA27997,ABA27998,ABA27999,ABA28000,ABA28001,ABA28002,ABA28003,ABA28004,ABA28005,ABA28006,ABA28007,ABA28008,ABA28009,ABA28010,ABA28011,ABA28012,ABA28013,ABA28014,ABA28015,ABA28050,ABA28051,ABA28052,ABA28053,ABA28054,ABA28055,ABA28056,ABA28057,ABA28058,ABA28059,ABA28060,ABA28061,ABA28062,ABA28063,ABA28064,ABA28065,ABA28066,ABA28067,ABA28068,ABA28069,ABA28070,ABA28071,ABA28072,ABA28073,ABA28074,ABA28038,ABA28039,ABA28040,ABA28041,ABA28042,ABA28043,ABA28044,ABA28045,ABA28046,ABA28047,ABA28048,ABA28049,ABA28016,ABA28017,ABA28018,ABA28019,ABA28020,ABA28021,ABA28022,ABA28023,ABA28024,ABA28025,ABA28026,ABA28027,ABA28028,ABA28029,ABA28030,ABA28031,ABA28032,ABA28033,ABA28034,ABA28035,ABA28036,ABA28037,ABA28076,ABA28077,ABA28078,ABA28079,ABA28080,ABA28081,ABA28082,ABA28083,ABA28084,ABA28085,ABA28086,ABA28087,ABA28088,ABA28089,ABA28090,ABA28091,ABA28092,ABA28093,ABA28094,AAK29063,AAK95642,BAG52640,AAH34496,ABA27530,ABA28122,ABA27952,ABA27986,ABA28075,EAW78459,ABA27447,ABA27448,ABA27449,ABA27450,ABA27451,ABA27452,ABA27453,ABA27454,ABA27455,ABA27456,ABA27457,ABA27458,ABA27462,ABA27463,ABA27464,ABA27465,ABA27466,ABA27467,ABA27468,ABA27469,ABA27470,ABA27471,ABA27472,ABA27473,ABA27474,ABA27475,ABA27476,ABA27477,ABA27478,ABA27479,ABA27480,ABA27481,ABA27482,ABA27483,ABA27461,ABA27484,ABA27485,ABA27486,ABA27487,ABA27488,ABA27489,ABA27490,ABA27491,ABA27492,ABA27493,ABA27494,ABA27495,ABA27496,ABA27497,ABA27498,ABA27499,ABA27500,ABA27501,ABA27502,ABA27503,ABA27504,ABA27505,ABA27506,ABA27507,ABA27508,ABA27509,ABA27510,ABA27511,ABA27512,ABA27513,ABA27514,ABA27515,ABA27516,ABA27517,ABA27518,ABA27519,ABA27520,ABA27521,ABA27522,ABA27523,ABA27524,ABA27525,ABA27526,ABA27527,ABA27528,ABA27529,ABA27936,ABA27937,ABA27938,ABA27939,ABA27940,ABA27941,ABA27942,ABA27943,ABA27944,ABA27945,ABA27946,ABA27947,ABA27948,ABA27949,ABA27950,ABA28095,ABA28096,ABA28097,ABA28098,ABA28099,ABA28100,ABA28101,ABA28102,ABA28103,ABA28104,ABA28105,ABA28106,ABA28107,ABA28108,ABA28109,ABA28110,ABA28111,ABA28112,ABA28113,ABA28114,ABA28115,ABA28116,ABA28117,ABA28118,ABA28119,ABA28120,ABA28121,ABA27531,ABA27532,ABA27533,ABA27534,ABA27535,ABA27536,ABA27537,ABA27538,ABA27539,ABA27540,ABA27541,ABA27542,ABA27543,ABA27544,ABA27545,ABA27546,ABA27547,ABA27548,ABA27549,ABA27550,ABA27551,ABA27552,ABA27553,ABA27554,ABA27555,ABA27556,ABA27557,ABA27558,ABA27559,ABA27560,ABA27886,ABA27887,ABA27888,ABA27889,ABA27890,ABA27891,ABA27892,ABA27893,ABA27894,ABA27895,ABA27896,ABA27897,ABA27898,ABA27899,ABA27900,ABA27901,ABA27902,ABA27903,ABA27904,ABA27905,ABA27906,ABA27907,ABA27908,ABA27909,ABA27910,ABA27911,ABA27912,ABA27913,ABA27914,ABA27915,ABA27916,ABA27917,ABA27918,ABA27919,ABA27920,ABA27921,ABA27922,ABA27923,ABA27924,ABA27925,ABA27926,ABA27927,ABA27928,ABA27929,ABA27930,ABA27931,ABA27932,ABA27933,ABA27934,ABA27935,ABA27885,ABA27562,ABA27563,ABA27564,ABA27565,ABA27566,ABA27567,ABA27568,ABA27569,ABA27570,ABA27571,ABA27572,ABA27573,ABA27574,ABA27575,ABA27576,ABA27577,ABA27578,ABA27579,ABA27561,ABA27581,ABA27582,ABA27583,ABA27584,ABA27585,ABA27586,ABA27587,ABA27588,ABA27589,ABA27590,ABA27591,ABA27592,ABA27593,ABA27594,ABA27595,ABA27596,ABA27597,ABA27598,ABA27599,ABA27600,ABA27601,ABA27580,ABA27629,ABA27630,ABA27631,ABA27632,ABA27633,ABA27634,ABA27635,ABA27636,ABA27637,ABA27638,ABA27639,ABA27640,ABA27641,ABA27642,ABA27643,ABA27644,ABA27645,ABA27646,ABA27671,ABA27672,ABA27673,ABA27674,ABA27675,ABA27676,ABA27677,ABA27678,ABA27679,ABA27680,ABA27681,ABA27682,ABA27683,ABA27684,ABA27685,ABA27686,ABA27687,ABA27688,ABA27689,ABA27690,ABA27691,ABA27743,ABA27744,ABA27745,ABA27746,ABA27747,ABA27748,ABA27749,ABA27750,ABA27751,ABA27752,ABA27753,ABA27754,ABA27755,ABA27756,ABA27757,ABA27758,ABA27759,ABA27760,ABA27761,ABA27762,ABA27763,ABA27764,ABA27765,ABA27766,ABA27767,ABA27768,ABA27769,ABA27770,ABA27771,ABA27772,ABA27773,ABA27774,ABA27775,ABA27692,ABA27693,ABA27694,ABA27695,ABA27696,ABA27697,ABA27698,ABA27699,ABA27700,ABA27701,ABA27702,ABA27703,ABA27704,ABA27705,ABA27706,ABA27707,ABA27708,ABA27709,ABA27710,ABA27711,ABA27712,ABA27776,ABA27777,ABA27778,ABA27779,ABA27780,ABA27781,ABA27782,ABA27783,ABA27784,ABA27785,ABA27786,ABA27787,ABA27788,ABA27789,ABA27790,ABA27791,ABA27792,ABA27793,ABA27794,ABA27795,ABA27796,ABA27797,ABA27798,ABA27799,ABA27800,ABA27801,ABA27802,ABA27803,ABA27804,ABA27805,ABA27806,ABA27602,ABA27603,ABA27604,ABA27605,ABA27606,ABA27607,ABA27608,ABA27609,ABA27610,ABA27611,ABA27612,ABA27613,ABA27614,ABA27615,ABA27616,ABA27617,ABA27618,ABA27619,ABA27620,ABA27621,ABA27622,ABA27623,ABA27624,ABA27625,ABA27626,ABA27627,ABA27628,ABA27713,ABA27714,ABA27715,ABA27716,ABA27717,ABA27718,ABA27719,ABA27720,ABA27721,ABA27722,ABA27723,ABA27724,ABA27725,ABA27726,ABA27727,ABA27728,ABA27729,ABA27730,ABA27731,ABA27732,ABA27733,ABA27734,ABA27735,ABA27736,ABA27737,ABA27738,ABA27739,ABA27740,ABA27741,ABA27742,ABA27648,ABA27649,ABA27650,ABA27651,ABA27652,ABA27653,ABA27654,ABA27655,ABA27656,ABA27657,ABA27658,ABA27659,ABA27660,ABA27661,ABA27662,ABA27663,ABA27664,ABA27665,ABA27666,ABA27667,ABA27668,ABA27669,ABA27670,ABA27647,ABA27808,ABA27809,ABA27810,ABA27811,ABA27812,ABA27813,ABA27814,ABA27815,ABA27816,ABA27817,ABA27818,ABA27819,ABA27820,ABA27821,ABA27822,ABA27823,ABA27824,ABA27825,ABA27826,ABA27827,ABA27828,ABA27829,ABA27830,ABA27831,ABA27832,ABA27833,ABA27834,ABA27835,ABA27836,ABA27837,ABA27838,ABA27839,ABA27840,ABA27841,ABA27842,ABA27843,ABA27844,ABA27845,ABA27846,ABA27847,ABA27848,ABA27849,ABA27850,ABA27851,ABA27852,ABA27853,ABA27854,ABA27855,ABA27807,ABA27856,ABA27857,ABA27858,ABA27859,ABA27860,ABA27861,ABA27862,ABA27863,ABA27864,ABA27865,ABA27866,ABA27867,ABA27868,ABA27869,ABA27870,ABA27871,ABA27872,ABA27873,ABA27874,ABA27875,ABA27876,ABA27877,ABA27878,ABA27879,ABA27880,ABA27881,ABA27882,ABA27883,ABA27884,ABA28123,ABA28124,ABA28125,ABA28126,ABA28127,ABA28128,ABA28129,ABA28130,ABA28131,ABA28132,ABA28133,ABA28134,ABA28135,ABA28136,ABA28137,ABA28138,ABA28139,ABA28140,ABA28141,ABA28142,ABA28143,ABA28144,ABA28145,ABA28146,ABA28147,ABA28148,ABA28149,ABA28150 Hs.444236 NYD-SP12 spermatogenesis associated 16|testis-specific Golgi protein protein-coding 1604999 SPATA17 spermatogenesis associated 17 17081983,16710414,16395525,15489334,14702039,12477932,19483714,19680270 128153 AK310291,AY963797,BC014608,CR597267,NM_138796,AC097061,AL354659,AL445428,CH471100,AK098591 AAY33662,AAH14608,Q96L03,ACE87460,ACE86774,NP_620151,CAH70665,CAH70554,EAW93332,BAC05343 Hs.171130 IQCH|MSRG-11|MSRG11|RP11-144C20.1 IQ motif containing H|spermatogenesis-associated protein 17|spermatogenesis-related protein 11 protein-coding 1606969 SPATA18 spermatogenesis associated 18 homolog (rat) 16088906,15489334,14702039,12477932,21264221,21264228 132671 NM_145263,AC093858,CH471057,AK057468,AK098625,AK304386,AK314799,BC025396,BC037886,AB465501,AB465502 NP_660306,EAX05432,EAX05433,BAB71501,BAC05356,BAG65222,AAH25396,AAH37886,Q8TC71,Q96M13,BAJ53738,BAJ53739 Hs.527090 FLJ32906|Mieap|SPETEX1 OTTHUMP00000218599|mitochondria-eating protein|spermatogenesis-associated protein 18 protein-coding 1606425 SPATA19 spermatogenesis associated 19 17081983,15489334,15302935,15139970,14702039,12688595,12477932,20682177,19886887,17207965 219938 NM_174927,AP001979,CH471065,AF521713,AK098717,BC058039,HC007298,HC044807 NP_777587,EAW67810,EAW67811,AAP80739,BAC05390,AAH58039,Q7Z5L4,CBH19454,CBH30733,ADQ32104 Hs.97541 CT132|FLJ25851|SPAS1|spergen1 cancer/testis antigen 132|spergen 1|spergen-1|spermatogenesis-associated protein 19, mitochondrial|spermatogenic cell-specific gene 1 protein|spermatogenic specific-gene1 protein-coding 731260 SPATA2 spermatogenesis associated 2 1580863 20953189,10222154,18364390,16189514,15489334,14702039,12531478,12477932,11780052,9872452,8889549,8889548,11160222,19605492,19615732,20385810 9825 NM_006038,NM_001135773,AL031685,CH471077,AB018300,AK023229,AK289644,AK295536,BC009481,BU738682,CB992178,CR591290,CR612212,N62318,U28164 NP_006029,NP_001129245,CAB46029,EAW75645,EAW75646,BAA34477,BAG51170,BAF82333,BAG58446,AAH09481,AAD28324,Q9UM82,ABM84411,ABM87411 Hs.48513 FLJ13167|KIAA0757|PD1|tamo spermatogenesis associated PD1|spermatogenesis-associated protein 2|spermatogenesis-associated protein PD1 protein-coding 1603970 SPATA20 spermatogenesis associated 20 15231747,15489334,15223837,14702039,12477932,9373149,8125298 64847 AC021491,CH471109,AF086245,AK025000,AK025622,AK092731,AK125807,AK225189,AK291805,AK308616,AK310416,AL137367,BC017468,NM_022827,BC025255,BC065526,BC111029,CR605871,CR936769,DQ238597,AK302850 NP_073738,EAW94603,EAW94604,EAW94605,BAB15051,BAB15192,BAG52603,BAG54251,BAF84494,CAH56380,AAH17468,AAH25255,AAH65526,AAI11030,ABB54669,Q659D4,Q8TB22,Q9H6R1,BAG64037 Hs.103147 DKFZp686H1839|FLJ21347|FLJ21969|MGC111032|SSP411|Tisp78 OTTHUMP00000221446|sperm protein SSP411|sperm-specific protein 411|spermatogenesis-associated protein 20|transcript increased in spermiogenesis 78 protein-coding 1602628 SPATA21 spermatogenesis associated 21 12477932 374955 NM_198546,AL358794,CH471167,AK128106,AK311614,AY327405,BC022039,BC150598 NP_940948,CAH73777,CAH73778,EAW51779,BAC87278,AAP92797,AAH22039,AAI50599,Q5VXG6,Q6ZRN2,Q7Z572 Hs.705501 MGC27074|RP11-430L17.3|spergen-2|spergen2 spermatogenesis-associated protein 21 protein-coding 1606760 SPATA22 spermatogenesis associated 22 12477932,15713825,15489334,14702039,15342556,20378615 84690 NM_032598,AC025125,CH471108,AF367472,AK295299,AK301892,AY032684,AY035867,AY035868,BC029483,AK057485,BG716998,BI463957,BP371122,DB450733,NM_001170695,NM_001170696,NM_001170697,NM_001170698,NM_001170699 NP_115987,EAW90508,EAW90509,EAW90510,EAW90511,EAW90512,AAK53408,BAG58280,BAG63323,AAK51120,AAK61373,AAK61374,AAH29483,Q8NHS9,ABM82168,ABM85354,NP_001164166,NP_001164167,NP_001164168,NP_001164169,NP_001164170 Hs.351068 NYD-SP20|NYDSP20 spermatogenesis-associated protein 22|testes development-related NYD-SP20|testis development protein NYD-SP20 protein-coding 3005862 SPATA24 spermatogenesis associated 24 17207965,12477932,16146721,16341674,19240791 202051 AA399058,AC135457,AK098740,BC040037,BC050563,BM785501,CH471062,NM_194296 ADQ33090,AAH50563,BAC05400,EAW62104,NP_919272,Q86W54,Q8N799 Hs.373612 CCDC161|T6441 OTTHUMP00000223723|OTTHUMP00000223725|coiled-coil domain containing 161|spermatogenesis-associated protein 24|testis protein T6441 homolog protein-coding 1605588 SPATA2L spermatogenesis associated 2-like 17207965,12477932,9110174,8619474,19615732 124044 BI917028,NM_152339,AC010538,CH471184,AF070574,AK127372,BC027606,BC039608,BC053588,CR602544 ADQ33009,NP_689552,EAW66697,EAW66698,EAW66699,BAG54497,AAH27606,AAH39608,AAH53588,Q8IUW3 Hs.374556 C16orf76|MGC26885|tamo SPATA2-like protein|spermatogenesis-associated protein 2-like protein protein-coding 1317781 SPATA3 spermatogenesis associated 3 12812072,16344560,14702039,12477932,20379614 130560 NM_139073,AC009407,AC105344,CH471063,AK093385,AK126086,AY032925,BC036248,BC047704,DB034232,DB446786 NP_620712,EAW70942,EAW70943,EAW70944,EAW70945,BAC04149,AAK54455,AAH47704,Q8NHX4 Hs.121021 TSARG1 OTTHUMP00000204858|OTTHUMP00000204865|spermatogenesis-associated protein 3|testis and spermatogenesis cell apoptosis related gene 1|testis and spermatogenesis cell-related protein 1|testis spermatocyte apoptosis-related protein 1 protein-coding 1348615 SPATA4 spermatogenesis associated 4 12019456,15489334,15158438,12477932,16336790,20379614,17207965 132851 NM_144644,AC093605,CH471056,AY040204,BC021731,BC029428,BC039342,HC007304 NP_653245,EAX04721,EAX04722,AAK72463,AAH21731,AAH39342,Q49AE5,Q8NEY3,ADQ31844,CBH19457 Hs.481235 MGC33432|SPEF1B|TSARG2 spermatogenesis-associated protein 4|testis and spermatogenesis cell related protein 2|testis and spermatogenesis cell-related protein 2|testis spermatocyte apoptosis-related gene 2 protein protein-coding 1321404 SPATA5 spermatogenesis associated 5 1580863 16465403,15489336,14702039,12477932,11256614,11230166,11076863,10734318,16381901,16344560,20379614 166378 NM_145207,AC021205,AC026402,AC097492,AC109357,CH471056,AF361489,AF479656,AK091384,AL832175,BC048217,CR738547,DA619323 NP_660208,EAX05213,EAX05214,EAX05215,EAX05216,AAM00262,AAM43608,BAC03651,AAH48217,Q8NB90,CAL37817,CAL38707 Hs.709648 AFG2|SPAF ATPase family gene 2 homolog|ATPase family protein 2 homolog|spermatogenesis associated factor SPAF|spermatogenesis-associated factor protein|spermatogenesis-associated protein 5 protein-coding 1317463 SPATA5L1 spermatogenesis associated 5-like 1 737633,1580863 20383146,19430482,14702039,12477932,9373149,8125298 737633 79029 NM_024063,NR_027635,AC025580,CH471082,AA451905,AF086107,AK022348,AK023232,AK225463,AK291457,BC000981,BC051861,DC346759 NP_076968,EAW77310,EAW77311,BAB14017,BAB14482,BAF84146,AAH00981,Q9BVQ7 Hs.369657 FLJ12286|MGC5347 spermatogenesis-associated protein 5-like protein 1 protein-coding 732866 SPATA6 spermatogenesis associated 6 16710414,15489334,14702039,12509440,12477932,11735130,16344560 54558 NM_019073,AL356968,AL359959,CH471059,AK000869,AK301770,BC020660,CR592303,BC040655,DB025426 NP_061946,CAI13432,CAI13434,CAI13435,CAI12916,CAI12917,EAX06854,EAX06855,BAA91403,BAG63229,AAH20660,Q9NWH7,ABM82927,ABM86117,CAI12915 Hs.538103 FLJ10007|SRF-1|SRF1 spermatogenesis-associated protein 6 protein-coding 1345087 SPATA7 spermatogenesis associated 7 21130836,20104588,19268277,16381901,15489336,15489334,14702039,12736779,12508121,12477932,11230166,11076863,9373149,8125298,16344560 55812 NM_018418,NM_001040428,AL049834,AL353786,CH471061,AF144487,AF144488,AK055864,AK225746,AK290631,AK293007,AL136604,BC008656,BC034635,BC037809,BC090875,CR533563,CR618045,CR936777,DA568174,NG_021183 NP_060888,NP_001035518,CAD18999,EAW81376,EAW81377,EAW81378,EAW81379,EAW81380,EAW81381,AAF66077,AAF66078,BAG51586,BAF83320,BAF85696,CAB66539,AAH08656,AAH90875,CAG38594,Q6FI63,Q9P0W8,CAL38116 Hs.525518 DKFZp686D07199|HSD-3.1|HSD3|LCA3|MGC102934 spermatogenesis-associated protein 7|spermatogenesis-associated protein HSD3 protein-coding 1347601 SPATA8 spermatogenesis associated 8 17207965,18951430,15489334,12477932,16809841 145946 HC007306,HC044843,NM_173499,AC027004,CH471101,AY489187,BC033979,BC066292,BC112390 CBH19458,CBH30751,ADQ31928,NP_775770,EAX02204,EAX02205,AAR39432,AAH33979,AAH66292,AAI12391,Q6RVD6,ADR82716 Hs.326528 MGC102678|MGC44294 spermatogenesis-associated protein 8|spermatogenesis-related protein 8 protein-coding 1317981 SPATA9 spermatogenesis associated 9 12493713,12477932,14702039,16963046,16344560,15489334 83890 NM_031952,AC008547,AC008840,CH471084,AK093225,AK292338,AK310260,AY027526,BC032832,BC047333,BQ013593,DB027274 NP_114158,EAW96046,EAW96047,BAC04101,BAF85027,AAK16746,AAH32832,AAH47333,Q9BWV2 Hs.50499,Hs.673966 FLJ35906|NYD-SP16 spermatogenesis-associated protein 9|testis development protein NYD-SP16 protein-coding 1344287 SPATC1 spermatogenesis and centriole associated 1 737633 16344560,15280373,12477932,20542897 737633 375686 AC206437,NM_198572,NM_001134374,AC109322,CH471162,AB092352,AK301710,BC050390,BC053547,DB052198 NP_940974,NP_001127846,EAW82167,BAD08232,BAG63181,AAH50390,AAH53547,Q76KD6 Hs.97726 MGC61633|SPATA15|SPERIOLIN speriolin|spermatogenesis and centriole-associated protein 1|spermatogenesis-associated protein 15|spermatogenic cell-specific Cdc20-binding protein protein-coding 736705 SPATS1 spermatogenesis associated, serine-rich 1 12477932 221409 NM_145026,AL353588,CH471081,AA400657,AK058171,BC100956,BC100957,BC100958,BC100959,BC110065,BC111414,DB460008 NP_659463,EAX04269,BAB71701,AAI00957,AAI00958,AAI00959,AAI00960,AAI10066,AAI11415,Q496A3 Hs.135283 FLJ25442|MGC119210|MGC119211|MGC119212|MGC119213|MGC133020|SPATA8|SRSP1 OTTHUMP00000217363|spermatogenesis-associated serine-rich protein 1 protein-coding 1312420 SPATS2 spermatogenesis associated, serine-rich 2 17989879,16344560,15146197,14702039,12477932,11944913,20379614 65244 AC009246,AC078826,AC125611,CH471111,AB075515,AK023179,AK023202,AK024678,AK095582,AK292334,AL833614,BC017767,NM_023071,BC032441,BC048299,BX648916,CN421379,CR613910,DB305045 NP_075559,EAW58068,EAW58069,EAW58070,EAW58071,BAE45760,BAB14448,BAB14460,BAB14958,BAF85023,AAH48299,Q86XZ4 Hs.654826 FLJ13117|Nbla00526|P59SCR|SCR59|SPATA10 putative protein product of Nbla00526|serine-rich spermatocytes and round spermatid 59 kDa protein|serine-rich spermatocytes and round spermatid protein|spermatogenesis-associated serine-rich protein 2 protein-coding 1607063 SPATS2L spermatogenesis associated, serine-rich 2-like 19913121,20628086,16381901,16344560,15489336,15342556,14702039,12477932,11230166,11076863,11256614,19005571,19727025 26010 NM_015535,NM_001100422,NM_001100424,NM_001100423,AC012459,AC074213,AC105381,CH471063,AF193059,AK002064,AK021816,AK090703,AK090867,AK092917,AK290496,AK299223,AK300075,AK314561,AL110124,AL525852,AY450394,BC010848,BC018736,BC065817,BP310992,BQ030316,CN480518,CR600930,CR617341,DB206952,DB454965 NP_056350,NP_001093892,NP_001093894,NP_001093893,AAY24307,AAX88978,EAW70197,EAW70198,EAW70199,EAW70200,EAW70201,AAG22487,BAA92065,BAF83185,BAG61258,BAG61879,CAB53658,AAR21087,AAH18736,Q4ZFW0,Q9NUQ6,CAL37655 Hs.120323 DKFZp564A2416|DNAPTP6|SGNP DNA polymerase transactivated protein 6|DNA polymerase-transactivated protein 6|OTTHUMP00000206210|OTTHUMP00000206215|OTTHUMP00000206401|SPATS2-like protein|stress granule and nucleolar protein protein-coding 1604521 SPC24 SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) 14702039,14699129,12477932,15371340,15961401,16565220,15964272,15489334,14738735 147841 NM_182513,AC011485,CH471106,CQ784019,AK075287,AK303157,AK303266,AY456387,BC105037,BC105039 NP_872319,EAW84174,CAF86972,BAC11523,BAG64259,BAG64348,AAR88651,AAI05038,AAI05040,Q8NBT2 Hs.381225 FLJ90806|SPBC24 hSpc24|kinetochore protein Spc24|spindle pole body component 24 homolog protein-coding 1606531 SPC25 SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq] 14699129,15961401,15815621,15489334,14738735,12477932,9585408,15371340,17207965 57405 AC208170,NM_020675,AC069137,CH471058,AF225416,AK291093,AY456388,BC022255,CR457197,CR590224,CR610550 EAX11290,NP_065726,AAY24098,EAX11288,EAX11289,AAG09718,BAF83782,AAR88652,AAH22255,CAG33478,Q9HBM1,ADQ32143 Hs.421956 AD024|MGC22228|SPBC25|hSpc25 2600017H08Rik|kinetochore protein Spc25|spindle pole body component 25 homolog protein-coding 1346470 SPCS1 signal peptidase complex subunit 1 homolog (S. cerevisiae) 724719,1580863 8632014,15489334,14702039,12477932,11042152 724719 28972 NM_014041,AC104446,CH471055,AF092138,AK027426,BC000884,BG724036,BI826431,BQ423345,BU070128,CA309210,DB459917,L38852 NP_054760,EAW65257,AAD40380,BAG51320,AAH00884,AAL31361,Q9Y6A9 Hs.11125 HSPC033|SPC1|SPC12|YJR010C-A OTTHUMP00000206959|SPase 12 kDa subunit|microsomal signal peptidase 12 kDa subunit|signal peptidase 12kDa|signal peptidase complex subunit 1 protein-coding 1345346 SPCS2 signal peptidase complex subunit 2 homolog (S. cerevisiae) 1580863 16169070,17207965,20029029,15489334,15342556,12477932,7788527 9789 NM_014752,AP001992,CH471076,CQ834280,CQ834314,AA921960,BC008063,BC064957,BC067821,BC070276,BC082231,BC106066,BP338843,CR542233,CR542243,CR596604,CR602832,CR607144,CR616868,CR619126,CR619127,CR619893,D14658 ADQ32607,NP_055567,EAW74952,CAH05355,CAH05372,AAH08063,AAH64957,AAH70276,AAH82231,AAI06067,CAG47029,CAG47039,BAA03492,Q15005 Hs.719927,Hs.282700 KIAA0102|MGC117366 SPase 25 kDa subunit|microsomal signal peptidase 25 kDa subunit|signal peptidase 25kDa subunit|signal peptidase complex subunit 2 protein-coding 1342746 SPCS2P signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 255320 XM_170777 1353202 SPCS3 signal peptidase complex subunit 3 homolog (S. cerevisiae) 737633 16344560,15489334,14702039,12975309,12477932,11230166,17207965,11256614 737633 60559 NM_021928,AC019163,CH471056,CQ834702,AK026302,AK092634,AL136660,AY359044,BC043490,BC047290,BC053883,CR603061,DB285025 NP_068747,EAX04718,EAX04719,CAH05566,BAB15437,CAB66595,AAQ89403,AAH47290,P61009,ACE87252,ACE86569,ADQ33088 Hs.42194 DKFZp564J1864|FLJ22649|PRO3567|SPC22/23|SPC3|YLR066W OTTHUMP00000218989|SPase 22 kDa subunit|SPase 22/23 kDa subunit|microsomal signal peptidase 22/23 kDa subunit|microsomal signal peptidase 23 kDa subunit|signal peptidase complex subunit 3 protein-coding 1318473 SPDEF SAM pointed domain containing ets transcription factor PDEF is an ETS transcription factor expressed in prostate epithelial cells. It acts as an androgen-independent transactivator of PSA (MIM 176820) expression.[supplied by OMIM] 2298935,1580863 10625666,19203193,18579687,18567002,17971898,17521701,17347682,17197890,16357167,16237704,15882048,15523673,15489334,14719083,14574404,12907642,12700667,12477932,11809674,10675039,6857767,18846421,19505923,19786015,19830706,20139077,20211142,20550708 2298935 25803 NM_012391,BX255971,BX255972,BX255973,CH471081,AB031549,AF071538,AK301543,BC021299 NP_036523,CAI23605,CAH73099,CAH73104,EAX03788,BAA89543,AAC95296,BAG63040,AAH21299,O95238,ABZ92226,ACE87768,ACE87089 Hs.485158 PDEF|RP11-375E1__A.3|bA375E1.3 SAM pointed domain-containing Ets transcription factor|prostate epithelium-specific Ets transcription factor|prostate-derived Ets factor|prostate-specific Ets protein-coding 1352707 SPDYA speedy homolog A (Xenopus laevis) 19622356,19686732,11980914,12839962,19106603,17671428,16951407,15815621,15611625,15489334,14702039,12972555,12477932 245711 NM_182756,NM_001008779,NM_001142634,AC097720,AC097724,CH471053,AA625975,AY820303,AY820304,BC047224,BC093005 NP_877433,NP_001008779,NP_001136106,AAY24014,AAY24125,EAX00526,AAW30394,AAW30395,AAH93005,Q53R02,Q5MJ70 Hs.511956 MGC110856|MGC57218|RINGO3|SPDY1|SPY1 RINGO A|hSpy/Ringo A|rapid inducer of G2/M progression in oocytes A|speedy homolog 1 (drosophila)|speedy homolog A (Drosophila)|speedy protein A|speedy-1 protein-coding 1606089 SPDYC speedy homolog C (Xenopus laevis) 15611625,18802405,12477932,20605920 387778 NM_001008778,AP003068,CH471076,AY820305,BC137244,BC137246,BC144548 NP_001008778,EAW74363,AAW30396,AAI37245,AAI37247,AAI44549,Q5MJ68 Hs.450642 Ringo2 RINGO C|hSpy/Ringo C|rapid inducer of G2/M progression in oocytes C|speedy C|speedy protein C protein-coding 1345167 SPDYE1 speedy homolog E1 (Xenopus laevis) This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq] 15574121,12073013 285955 NM_175064,AC004951,AF412027,AL137266 NP_778234,AAM62309,CAB70665,A6NJR5,Q8NFV5,AAI67785 Hs.645483 DKFZp434A1014|Ringo1|SPDYE|WBSCR19 Speedy E|Williams Beuren syndrome chromosome region 19 protein|putative WBSCR19-like protein 6|speedy protein E1|williams-Beuren syndrome chromosomal region 19 protein protein-coding 2303832 SPDYE2 speedy homolog E2 (Xenopus laevis) 12477932,10737800 441273 NM_001031618,AC004084,AC093668,AK302217,BC100973,AC105052,BF809327,DR731150 NP_001026789,BAG63573,AAI00974,Q495Y8 Hs.657804,Hs.433879,Hs.489449 MGC119295 OTTHUMP00000217365|putative Speedy protein E2|speedy protein E2 protein-coding 1605479 SPDYE3 speedy homolog E3 (Xenopus laevis) 15489334,12853948,12690205,12477932 441272 NM_001004351,AC005071,CH236956,BC056606,BC100972 NP_001004351,EAL23843,AAH56606,AAI00973,A6NKU9,Q495Y9 Hs.703626 MGC119294|MGC57359 Putative WBSCR19-like protein 7|putative Speedy protein E3|speedy protein E3 protein-coding 2303837 SPDYE4 speedy homolog E4 (Xenopus laevis) 12477932 388333 BC171861,NM_001128076,AC009451,BC146949,BC146966 NP_001121548,AAI46950,AAI46967,A6NLX3 Hs.368429 putative Speedy protein E4|speedy protein E4 protein-coding 2303882 SPDYE5 speedy homolog E5 (Xenopus laevis) 12853948 442590 NM_001099435,AC018720 NP_001092905,A6NIY4 Hs.632298 Williams Beuren syndrome chromosome region 19-like|putative Speedy protein E5|putative speedy protein E5 protein-coding 2303825 SPDYE6 speedy homolog E6 (Xenopus laevis) 11181995,12853948 729597 CH471197,NM_001146210,AC005088,AC091390 EAW50235,EAW50236,EAW50237,NP_001139682,P0CI01 Hs.657804 putative speedy protein E6|speedy homolog E6 protein-coding 2303833 SPDYE7P speedy homolog E7 (Xenopus laevis), pseudogene 12477932 441251 NR_003666,AC005488,BC100974 Q495Y7 Hs.591819 MGC119297 pseudo 2303884 SPDYE8P speedy homolog E8 (Xenopus laevis), pseudogene 12477932 389517 NR_003664,AC005488,BC045636,BC068610,BC110795 Q3ZCS2 Hs.571275,Hs.592259 MGC131642|MGC48646 pseudo 1344029 SPEER1 spermatogenesis associated glutamate-rich protein 1 442872 1344375 SPEER2 spermatogenesis associated glutamate-rich protein 2 442873 1347819 SPEER3 spermatogenesis associated glutamate-rich protein 3 442874 1343609 SPEER4A spermatogenesis associated glutamate-rich protein 4A 442875 1347172 SPEER4B spermatogenesis associated glutamate-rich protein 4B 442876 1350780 SPEER4C spermatogenesis associated glutamate-rich protein 4C 442877 1354004 SPEER4D spermatogenesis associated glutamate-rich protein 4D 442878 1345326 SPEER4E spermatogenesis associated glutamate-rich protein 4E 442879 1342954 SPEER4F spermatogenesis associated glutamate-rich protein 4F 442880 1352079 SPEER5 spermatogenesis associated glutamate-rich protein 5 442881 1345693 SPEER6 spermatogenesis associated glutamate-rich protein 6 442882 1349168 SPEER7 spermatogenesis associated glutamate-rich protein 7 442883 1352557 SPEER8 spermatogenesis associated glutamate-rich protein 8 442884 1343688 SPEER9 spermatogenesis associated glutamate-rich protein 9 442885 1322632 SPEF1 sperm flagellar 1 16344560,16206169,15979255,15489334,12477932,11780052,11230166,16189514 25876 NM_015417,AL109804,CH471133,AI925267,AK313766,AL040853,AL080154,BC022476,BI520334,DB030684,DB033051,EF560745 NP_056232,CAI18846,EAX10503,EAX10504,EAX10505,BAG36504,CAB45745,AAH22476,ABQ59055,Q9Y4P9 Hs.72620 C20orf28|CLAMP|DKFZp434I114|SPEF1A calponin-homology and microtubule-associated protein|sperm flagellar protein 1 protein-coding 1605340 SPEF2 sperm flagellar 2 19240061,17610085,16549801,16344560,14702039,12477932,11214970,9373149,8125298,7566098,20379614 79925 NM_024867,NM_144722,AC025448,AC112204,AC116333,AC137810,AC142209,CH471119,AA328954,AB051557,AK026817,AK027230,AK058124,AK094564,AK097547,AK225586,AK225607,AL832607,BC016773,BC067761,BC110984,BQ576090,BX648691,CB955825,DA295300,EF553528 NP_079143,NP_653323,EAW55920,EAW55921,EAW55922,EAW55923,BAB21861,BAB15563,BAB15700,BAB71674,AAI10985,Q9C093,AAI56529,AAI72520 Hs.298863 CT122|FLJ23164|FLJ23577|FLJ25395|KIAA1770|KPL2|MGC102842 KPL2 protein|cancer/testis antigen 122|sperm flagellar protein 2 protein-coding 734132 SPEG SPEG complex locus Expression of this gene is thought to serve as a marker for differentiated vascular smooth muscle cells which may have a role in regulating growth and differentiation of this cell type. The encoded protein is highly similar to the corresponding rat and mouse proteins. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of only one variant has been defined. [provided by RefSeq] 8663449,16545539,16354304,15815621,15784173,15489334,15185077,14702039,12477932,10718198,10318857,19913121,20628086,16344560,8889548 10290 NM_005876,AC053503,CH471063,AB037718,AK055387,AK126500,AK128689,AK129604,AK289531,AL535839,AY603755,CR542201,CR619747,DQ395348,U57099,BC006346,AK098307,BM677138,DA063220,NM_001173476 NP_005867,AAY15052,EAW70742,EAW70743,EAW70744,EAW70745,EAW70746,EAW70747,EAW70748,EAW70749,EAW70750,EAW70751,BAA92535,BAC86568,BAF82220,AAT80901,AAH06346,CAG46998,ABD61734,AAC50599,Q15772,BAC05282,NP_001166947 Hs.21639 APEG-1|APEG1|BPEG|KIAA1297|MGC12676|SPEGalpha|SPEGbeta APEG-1|aortic preferentially expressed gene 1|aortic preferentially expressed protein 1|nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury|striated muscle preferentially expressed protein kinase protein-coding 1602954 SPEM1 spermatid maturation 1 17426145,14702039,12477932 374768 NM_199339,AC113189,CS111500,AK097400,BC033882 NP_955371,CAJ09938,BAC05034,AAH33882,Q8N4L4,Q8N839 Hs.710599 C17orf83|FLJ40081 chromosome 17 open reading frame 83|spermatid maturation protein 1 protein-coding 1350979 SPEN spen homolog, transcriptional regulator (Drosophila) This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq] 1580863 16129689,18332109,17474147,17234755,17081983,16964243,16713569,16710414,16583136,15824732,15302935,15062576,14702039,12897056,12374742,11867749,11331609,10451362,10231032,1020939,20460484,19454010,18029348 23013 CR620882,AL034555,AL450998,CH471167,AB023146,AF085964,AF356524,AK000882,AK022949,AK092332,AK127577,AL096858,NM_015001,HI573954 CAB51072,Q5VVE2,Q96T58,NP_055816,CAI19526,CAI19528,CAH70858,CAH70862,EAW51756,BAA76773,AAK52750,BAA91405,BAB14324,CBX47466 Hs.725959 HIAA0929|KIAA0929|MINT|RBM15C|RP1-134O19.1|SHARP Msx2 interacting nuclear target (MINT) homolog|SMART/HDAC1 associated repressor protein|SMART/HDAC1-associated repressor protein|msx2-interacting protein|nuclear receptor transcription cofactor protein-coding 1606126 SPERT spermatid associated 12204287,16189514,14702039,12477932,20096028 220082 NM_152719,AL139320,AK093129,AK292350,BC027609,HC007310,HC044641 NP_689932,CAH70637,CAH70638,BAC04067,BAF85039,AAH27609,Q8NA61,CBH19460,CBH30650 Hs.186363 CBY2|FLJ35810|NURIT chibby homolog 2|novel leucine zipper testicular protein|protein chibby homolog 2|spermatid flower-like structure protein|spermatid-associated protein|testis specific leucine zipper protein nurit|testis-specific leucine zipper protein nurit protein-coding 1349587 SPESP1 sperm equatorial segment protein 1 17978344,15489334,12975309,12773409,12477932,17207965 246777 NM_145658,AC087639,CH471082,AF275321,AY358983,BC017998,BG720873,BM564110 NP_663633,EAW77829,AAM69364,AAQ89342,AAH17998,Q6UW49,ADQ32233 Hs.657932 MGC24663|SP-ESP ESP|equatorial segment protein|glycosylated 38 kDa sperm protein C-7/8|sperm equatorial segment protein 1 protein-coding 1347040 SPG11 spastic paraplegia 11 (autosomal recessive) The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 20669327,20390432,19224311,19196735,19105190,19084844,19040626,18835492,18717728,18663179,18439221,18408091,18361476,18337587,18332254,18079167,18067136,17717710,17322883,16699786,16344560,14702039,12477932,11347906,10408536,9373149,8206979,8125298,19194956,19513778,19917823,20110243,20379614 80208 NG_008885,NM_001160227,AB470311,AB470312,AC009996,CH471082,AB058743,AB470308,AB470309,AB470310,AK025092,AK057869,AK091176,AK094331,AK225186,AL834168,BC024161,BC047416,BC067798,BC094704,BC150640,BC153879,CR594450,DA926289,NM_025137 NP_079413,NP_001153699,EAW77272,EAW77273,BAB47469,BAH58758,BAH58759,BAH58760,BAB15065,BAC03600,BAC04333,CAH10686,AAH24161,AAH67798,AAH94704,AAI50641,AAI53880,Q96JI7 Hs.656271,Hs.683876 DKFZp762B1512|FLJ21439|KIAA1840 colorectal carcinoma-associated protein|spastic paraplegia 11 protein|spatacsin APPROVED protein-coding 1352500 SPG12 spastic paraplegia 12 (autosomal dominant) 10677333 23675 1343240 SPG13 spastic paraplegia 13 (autosomal dominant) 10677329 56733 1351137 SPG14 spastic paraplegia 14 (autosomal recessive) 10877981 57309 1353805 SPG15 spastic paraplegia 15 (complicated, autosomal recessive) 207106 1353816 SPG16 spastic paraplegia 16 (complicated, X-linked recessive) 10982473,10982474 57760 1344469 SPG17 spastic paraplegia 17 (Silver syndrome) 11389484 64408 1347039 SPG18 spastic paraplegia 18 (autosomal dominant) 140906 1349854 SPG19 spastic paraplegia 19 (autosomal dominant) 140907 1314206 SPG20 spastic paraplegia 20 (Troyer syndrome) This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq] 19307600,18413476,17420921,17332501,16945107,16344560,16036216,15489334,20504295,20719964,19580544,19620182,19765186,15231748,15188498,15057823,14702039,12676568,12477932,12134148,10463356,9628581,8889549,6022528 23111 AY123331,AY123332,AY123333,AY123334,AY123335,AY123336,NM_015087,NM_001142294,NM_001142295,NM_001142296,NG_011559,AL139377,AY038934,AY123337,CH471075,CQ859806,AA137195,AB011182,AK001949,AK002207,AK057764,AK291724,AK302119,AY038359,AY123329,BC026284,BC047083,BQ719410,BU622545,BX648004,CR609925,CR624417,DA347686,DA507821,DA710623,DB282617 NP_055902,NP_001135766,NP_001135767,NP_001135768,CAC17479,AAK71883,AAM76672,EAX08558,EAX08559,EAX08560,EAX08561,EAX08562,EAX08563,CAH25953,BAA25536,BAG50995,BAG51030,BAF84413,BAG63497,AAK72374,AAM76671,AAH47083,Q8N0X7 Hs.440414 KIAA0610|SPARTIN|TAHCCP1 spartin|spastic paraplegia 20 protein|trans-activated by hepatitis C virus core protein 1 protein-coding 1351182 SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) The protein encoded by this gene was identified by a two-hybrid screen using CD4 as the bait. It binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. At least three different transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 1580863,1556574 11113139,16189514,15489334,15342556,14702039,14564668,12477932,9373149,8125298,6024251,17207965,19184135 1556574 51324 AF208861,AF212231,AK123725,AK172849,AK225527,AK301362,AK312943,BC000244,BI552731,BI771887,BP268875,BX446863,CR592296,CR593134,CR597831,CR601212,CR605959,CR613754,CR615282,NM_016630,NM_001127889,NM_001127890,AC069368,AC103691,CH471082,NG_008992 EAW77705,AAF64275,AAK14917,BAD18813,BAG62906,AAH00244,Q9NZD8,NP_057714,NP_001121361,NP_001121362,EAW77704,ADQ31856 Hs.242458 ACP33|BM-019|GL010|MASPARDIN|MAST acid cluster protein 33|maspardin|spastic paraplegia 21 autosomal recessive Mast syndrome protein|spastic paraplegia 21 protein protein-coding 1344938 SPG23 spastic paraplegia 23 (autosomal recessive) 14681889 353293 1350179 SPG24 spastic paraplegia 24 (autosomal recessive) 12499481 338090 1343849 SPG25 spastic paraplegia 25 (autosomal recessive, with disc herniation) 12070243 387583 1349141 SPG27 spastic paraplegia 27 (autosomal recessive) 414886 1354358 SPG3B spastic paraplegia 3B 7825576 6682 1343917 SPG5A spastic paraplegia 5A (autosomal recessive) 6684 1346296 SPG5B spastic paraplegia 5B (autosomal recessive) 6685 1342736 SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. [provided by RefSeq] 1580863 11549317,9635427,18799786,18563470,18200586,17646629,17420921,16534102,16357941,16189514,15489334,14702039,14506940,12477932,10480368,9634528,9405655,8429914,8098008,1560826,16169070,19748354,19841671,20108356,20877624 6687 BC015411,BC035929,BC036104,BC052587,BC110530,BC110531,BI827568,CA447374,CR609511,S54769,Y16610,NM_003119,NM_199367,NG_008082,AC092123,AF080525,CH471184,D14075,X65784,AF034795,AF090912,AK094627,BC007692 AAH35929,AAH36104,AAB25303,CAA76314,O43535,Q9UI71,Q9UQ90,ACE87780,NP_003110,NP_955399,AAD28099,EAW66726,EAW66727,EAW66728,EAW66729,BAA03160,CAA46667,AAC02429,AAF24033,BAG52898,ACT64446 Hs.185597 CAR|CMAR|FLJ37308|MGC126331|MGC126332|PGN|SPG5C cell adhesion regulator|cell matrix adhesion regulator|paraplegin|paraplegin, isoform 1|spastic paraplegia 7 protein|spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) protein-coding 1352958 SPG8 spastic paraplegia 8 (autosomal dominant) 9973294 9195 1349562 SPG9 spastic paraplegia 9 (autosomal dominant) 9973297 9193 1603228 SPHAR S-phase response (cyclin related) 7799938,16710414,12477932 10638 NM_006542,AL117350,DQ120096,X82554,AI400109,BC070287,BC107681 NP_006533,CAC17573,AAZ15373,CAA57901,AAH70287,Q15513 Hs.296169 MGC88280|RP4-803J11.4 S-phase response (cyclin-related)|S-phase response protein|protein SPHAR protein-coding 1346404 SPHK1 sphingosine kinase 1 Sphingosine-1-phosphate (SPP) is a novel lipid messenger with both intracellular and extracellular functions. Intracellularly, it regulates proliferation and survival, and extracellularly, it is a ligand for EDG1 (MIM 601974). Various stimuli increase cellular levels of SPP by activation of sphingosine kinase (SPHK), the enzyme that catalyzes the phosphorylation of sphingosine. Competitive inhibitors of SPHK block formation of SPP and selectively inhibit cellular proliferation induced by a variety of factors, including platelet-derived growth factor (e.g., MIM 173430) and serum.[supplied by OMIM] 2311380,2311379,2311390 8125298,7698749,20634980,20520628,8889549,12393916,10863092,10947957,15623571,12441135,12847068,10751414,19240026,19162217,19017993,19116345,19074142,18980995,18922940,18852266,18849324,18824518,18644866,18426913,18401414,18362204,18263879,18261991,18199826,18192241,18178871,18058224,17822721,17641298,17599053,17519232,17482291,17388800,17114809,17064696,16623665,16575915,16571380,16529909,16516161,16507765,16316995,16243846,16194537,16038795,15855330,15749892,15710602,15693752,15632208,15585953,15342556,15302883,15265887,15265705,15191888,15052627,14988393,14742298,14702039,14575709,14532121,12477932,12444147,12124383,12080051,12077123,11915350,11856736,11777919,10802064,9726979,9373149,20519401,15193146,16888242,17124500,18718048,18775504,19238330,19633297,19657322,19706837,19782042,19815712,19830907,19854831,19914200,19956567,20053797,20104488,20237496,20522778,20926375,20404323 2311380,2311379,2311390 8877 NM_182965,NM_021972,NM_001142601,NM_001142602,AC090699,AY278525,CH471099,AF200328,AF238083,AF266756,AJ245504,AK022402,AK023393,AK095578,AK122781,AK225250,AK225258,AK292294,AK292614,BC004112,BC008040,BC009419,BC014439,BC030553,BP304783,DC384776 NP_892010,NP_068807,NP_001136073,NP_001136074,AAP35060,EAW89388,EAW89389,EAW89390,EAW89391,EAW89392,EAW89393,EAW89394,AAG01980,AAF73423,AAF73470,CAB92131,BAB14028,BAB14558,BAG53725,BAF84983,BAF85303,AAH04112,AAH08040,AAH09419,AAH14439,AAH30553,Q53ZR5,Q96GK1,Q96HV8,Q9BTG7,Q9NYA1 Hs.68061 SPHK SK 1|SPK 1|sphingosine kinase 1 protein-coding 1317131 SPHK2 sphingosine kinase 2 1580863 12391145,11777919,10751414,19490468,19240026,19168031,18263879,18178871,17895250,17635916,17311928,16103110,15951439,15489334,14702039,14596938,12477932,11230166,8786133,16316995,16888242,20197547,20237496 56848 AK300541,AL136701,BC006161,BC010671,CR614720,EF107108,NM_020126,AC022154,CH471177,AB100373,AF245447,AK000599,AK074601,AK122735,AK125560,AK297787 BAH12667,BAG62249,CAB66636,AAH06161,AAH10671,ABK81123,Q86YZ5,Q8N2M3,Q9NRA0,ABM87789,ABW03921,NP_064511,EAW52365,EAW52366,EAW52367,EAW52368,EAW52369,EAW52370,EAW52371,BAC55583,AAF74124,BAA91280,BAC11085,BAG53695 Hs.528006 SK 2|SPK 2|sphingosine kinase 2|sphingosine kinase type 2 isoform protein-coding 1604287 SPHKAP SPHK1 interactor, AKAP domain containing 12080051,18055454,17325258,17164439,15485866,14702039,12477932,11214970,20379614,20394097 80309 NM_030623,NM_001142644,AC096557,AC109825,AB051465,AK090876,AK095042,AK127071,BC104954,BC104956,BC143408,CR749297,CR749494 NP_085126,NP_001136116,BAB21769,BAG52242,AAI04955,AAI04957,CAH18152,CAH18317,Q2M3C7,ADR83443 Hs.436306 DKFZp781H143|DKFZp781J171|KIAA1678|MGC132614|MGC132616|SKIP A-kinase anchor protein SPHKAP|SPHK1 (sphingosine kinase type 1) interacting protein|SPHK1-interactor and AKAP domain-containing protein|sphingosine kinase type 1-interacting protein protein-coding 1344411 SPI1 spleen focus forming virus (SFFV) proviral integration oncogene spi1 This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18676813,10196196,10207087,2180582,10867017,12833137,19281794,19208846,19158090,19118563,19111020,18635311,18316480,18308386,18288635,18056638,17694175,17671233,17623651,17621263,17562868,17545613,17410194,17386941,17218319,17200120,16973891,16861236,16698794,16642264,16352814,16320347,16298389,16263717,16223775,16149049,16083856,16051608,15796964,15632149,15625130,15598817,15342556,15339679,15304486,15242870,14706103,14647463,14623259,12896880,12832449,12778491,12477932,12393465,12372320,12202480,12130529,12130514,12091339,12036891,11929801,11926990,11181995,11133986,11076863,10734131,10411939,10364157,18657865,20471086,10050886,10022840,9918847,9681824,9600921,9478924,9376596,9211934,9094628,8626664,8434021,8219191,7730336,7594592,7478579,2338340,1693183,9668064,8632909,19382896,20660370,16331260,16702405,16983342,18692240,19076642,19428102,19502584,19542915,19564417,19632992,19747912,19749795,19825991,19828640,19890096,19966852 6688 NM_003120,AC090559,AC090582,CH471064,U34046,AK310065,BI519776,BI909430,BM561863,BP271276,CD368431,CR599683,CR606393,CR613003,CR615071,CR625357,X52056,NM_001080547 NP_001074016,NP_003111,EAW67924,EAW67925,EAW67926,AAC50247,CAA36281,P17947,AAI11380 Hs.502511 OF|PU.1|SFPI1|SPI-1|SPI-A 31 kDa transforming protein|31 kDa-transforming protein|SPI-1 proto-oncogene|hematopoietic transcription factor PU.1|transcription factor PU.1 protein-coding 1347644 SPIB Spi-B transcription factor (Spi-1/PU.1 related) SPI1 (MIM 165170) and SPIB are members of a subfamily of ETS (see ETS1; MIM 164720) transcription factors. ETS proteins share a conserved ETS domain that mediates specific DNA binding. SPIB and SPI1 bind to a purine-rich sequence, the PU box (5-prime-GAGGAA-3-prime).[supplied by OMIM] 1580863 20826618,1406622,8670269,18792017,18552212,16317090,16263717,15583020,15489334,12477932,12393575,11864910,11841448,10196196,9373149,8125298,8632909,12748276,10618498,18029348,20639880 6689 NM_003121,AC020909,CH471135,AK225225,AK225720,AK292644,AK300639,BC007921,BQ064401,CR591146,X66079,X96998 NP_003112,EAW71858,EAW71859,EAW71860,EAW71861,EAW71862,EAW71863,EAW71864,BAF85333,BAG62328,AAH07921,CAA46878,CAA65726,Q01892,ABZ92185 Hs.437905 SPI-B transcription factor Spi-B protein-coding 1314796 SPIC Spi-C transcription factor (Spi-1/PU.1 related) 1580863 16647686,15489334,12477932,12459275 121599 NM_152323,AC090671,CH471054,AF518404,BC032317 NP_689536,EAW97662,AAN84476,AAH32317,Q8N5J4,ABZ92378 Hs.577097 MGC40611|SPI-C transcription factor Spi-C protein-coding 1314698 SPIN1 spindlin 1 1580863 16169070,21044367,18543248,18391951,18201843,17082182,16472086,16381901,16098913,15489336,15489334,15164053,14702039,12477932,11256614,11230166,11076863,9053325,20881960 10927 NM_006717,AL353748,CH471089,AF087864,AF106682,AF317228,AJ420427,AK024590,AK027044,AK092017,AK289691,AK290009,AK315854,AL136719,BC013571,BC114515,BC114565,BT007314,CR533484,CR616534,DB465491 NP_006708,CAH72406,EAW62753,EAW62754,EAW62755,AAG48367,AAD43035,AAG38112,BAG52466,BAF82380,BAF82698,BAF98745,CAB66653,AAI14516,AAI14566,AAP35978,CAG38515,Q9Y657,CAL37656,CAL38623,ABM84462,ABM87799 Hs.146804 SPIN ovarian cancer-related protein|spindlin|spindlin-1 protein-coding 1348781 SPIN2A spindlin family, member 2A 1580863 15772651,15489334,12477932,12145692,12107411,9271673,19377476,17207965 54466 NM_019003,AL022157,CH471154,BC071694,Y09858,NG_016252 NP_061876,CAI42597,EAW93242,EAW93243,AAH71694,CAA70988,Q99865,ADQ31974 Hs.460725 DXF34|MGC88670|RP3-323P24.2|SPIN2|dJ323P24.1 OTTHUMP00000024302|SPIN-2|SPIN-2A|centromeric spin2 copy|spindlin homolog 2|spindlin-2A|spindlin-like protein 2|spindlin-like protein 2A protein-coding 1603797 SPIN2B spindlin family, member 2B 15772651,15489334,12477932,12145692,20351274,17207965 474343 NM_001006681,NM_001006682,NM_001006683,AL022157,CH471154,AF356353,BC000044,BC071974,BQ221120 NP_001006682,NP_001006683,NP_001006684,CAI42598,CAI42599,CAI42600,EAW93238,EAW93239,EAW93240,AAK37566,AAH00044,AAH71974,Q5JZB8,Q9BPZ2,ADQ31693 Hs.727702 SPIN-2|SPIN2_duplicate|dJ323P24.2 OTTHUMP00000023418|SPIN-2B|spindlin family, member 2 duplicate|spindlin-2B|spindlin-like protein 2B|telomeric SPIN2 copy protein-coding 1604513 SPIN3 spindlin family, member 3 18029348,16344560,15772651,15489334,14702039,12477932 169981 NM_001010862,AL139397,CH471154,AJ271379,AK123122,AK127485,AK304047,AL832091,BC016437,BC018073,BC032490,BC146899,BC146906,BX403408,CR614652,NR_027139,DB151976 NP_001010862,CAI40751,EAW93237,BAH14098,AAI46900,AAI46907,Q5JUX0 Hs.522672 FLJ41127|FLJ54952|MGC40395|SPIN-3|bA445O16.1 bA445O16.1 (DXF34)|spindlin-3|spindlin-like protein 3 protein-coding 1602297 SPIN4 spindlin family, member 4 14702039,12477932,11181995 139886 NM_001012968,AL158203,CH471132,AK021705,AK126931,AL833314,BC035088,BC043412,BC112360 NP_001012986,CAI41371,EAX05423,BAG54402,AAH43412,AAI12361,Q56A73 Hs.612782 FLJ44984|MGC133224 OTTHUMP00000023423|spindlin-4 protein-coding 1350719 SPINK1 serine peptidase inhibitor, Kazal type 1 The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq] 1580863,2300384,2300385,2300388,2300393,2300382,2300389,2300390,2300387,2300386,2300391,1599102 20625975,20676769,20442300,20543535,3877508,3501289,2961612,2110056,2093478,1613792,843082,1870127,14722925,14688470,14675563,14595541,14526128,12973686,12939655,12875970,12825076,12822871,12649567,12529713,12477932,12452372,12360464,12360463,12187509,12120224,12120220,12014716,12011155,11950817,11950815,11938439,11866271,11355022,10982753,10835640,10691414,9643675,8433367,7142173,14507909,19502653,19433603,19404200,19384300,19147803,19096130,19077465,18986377,18978175,18953248,18852684,18706099,18680227,18617776,18580441,18538735,18428024,18414673,18347987,18336671,18317448,18182741,18076731,17990360,17981921,17681820,17613931,17568390,17525091,17489851,17446841,17333166,17238043,17163998,17072959,17003641,16981266,16958672,16954950,16764792,16497624,16327984,16187186,15987793,15980664,15910626,15810949,15782101,15764155,15753612,15749233,15749232,15489334,15367892,15329520,15238770,15082592,19372376,19465903,19565042,19578796,19593166,19654461,19657220,19696993,19844201,19845895,19864383,19888199,20108119,20502448,20551465,20977904 2300384,2300385,2300388,2300393,2300382,2300389,2300390,2300387,2300386,2300391,1599102 6690 NM_003122,NG_008356,AC011352,AF286028,CH471062,M20530,AI990990,BC025790,BU074107,M11949,Y00705 NP_003113,AAG00531,EAW61817,AAA36522,AAH25790,AAA36521,CAA68697,P00995,ABM84539,ABM87841 Hs.407856 PCTT|PSTI|Spink3|TATI OTTHUMP00000223881|pancreatic secretory trypsin inhibitor|serine protease inhibitor Kazal-type 1|serine protease inhibitor, Kazal type 1|serine protease inhibitor, kazal type 1|tumor-associated trypsin inhibitor protein-coding 2949691 SPINK13 serine peptidase inhibitor, Kazal type 13 (putative) 12477932,14702039,15060002,18390568 153218 AC011346,AK001520,BC128163,BC128164,CH471062,DQ438947,EF108324,EF426754,NM_001040129 AAI28164,AAI28165,ABD96086,ABO28598,ABR09863,EAW61812,NP_001035218,Q1W4C9 Hs.483771 HBVDNAPTP1|HESPINTOR|LiESP6|MGC149260|SPINK5L3 OTTHUMP00000223889|hepatitis B virus DNA polymerase transactivated human serine protease inhibitor|hepatitis B virus DNA polymerase transactivated serine protease inhibitor|serine peptidase inhibitor, Kazal type 13 (putative)|serine protease inhibitor Kazal-type 13|serine protease inhibitor Kazal-type 5-like 3 protein-coding 1349585 SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) 1580863 17333166,15489334,15120973,20736409,12477932,8428671,2226783,1801743,1704312,791787,19422058 6691 FB659838,GU727622,NM_021114,AC022483,CH471057,M91438,AK312222,BC022514,CR542135,X57655 ADU87624,CAS01774,NP_066937,EAX05512,EAX05513,EAX05514,EAX05515,AAB59431,BAG35155,AAH22514,CAG46932,CAB37834,P20155,Q6FGH2,ABM86459,ABW03650 Hs.98243 HUSI-II OTTHUMP00000218967|OTTHUMP00000218968|acrosin-trypsin inhibitor|serine protease inhibitor Kazal-type 2|serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)|serine protease inhibitor, Kazal type, 2 (acrosin-trypsin inhibitor)|serine protease inhibitor, kazal type 2 (acrosin-trypsin inhibitor) protein-coding 1342974 SPINK4 serine peptidase inhibitor, Kazal type 4 1580863 18029348,17333166,15489334,15164053,12678500,12477932,1400298 27290 NM_014471,AL161445,CH471071,AF048700,BC110068 NP_055286,CAD13307,EAW58518,AAC05124,AAI10069,O60575 Hs.555934 MGC133107|PEC-60 OTTHUMP00000021195|gastrointestinal peptide|peptide PEC-60 homolog|serine protease inhibitor Kazal-type 4|serine protease inhibitor, Kazal type 4 protein-coding 1315213 SPINK5 serine peptidase inhibitor, Kazal type 5 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599104,1580863 10419450,15680911,12915442,18029348,15675955,19534795,19247692,19118981,18774391,18588753,17989887,17989726,17936012,17596512,17415575,17333166,16601670,16519819,16374478,15986064,15942217,15820494,15466487,10835624,10712206,15366933,15304086,15005725,14551605,12752122,12437098,11943586,11874482,11841556,11796258,11594460,11544479,11511292,19913121,20628086,19438860,19522716,19674346,19996348,20085599,20107740,20395963,20533828,20701904,20800603,21087323 1599104 11005 DQ149928,DQ149929,DR421881,NM_006846,NM_001127699,NG_009633,AC008722,AC116334,AF295783,AF295784,AJ391230,CH471062,AF086524,AF147363,AI341060,AJ228139,AK025197,AK299455,AK301660,AK307588,AK307648,AK309753,BI256857,BX648792,DQ149927,NM_001127698 ABA06534,ABA06535,ABA06536,Q9NQ38,AAI41546,NP_001121170,NP_006837,NP_001121171,AAK97140,AAK97139,CAB96877,EAW61815,CAB40839,BAG61426,BAG63135 Hs.331555 DKFZp686K19184|FLJ21544|FLJ97536|FLJ97596|FLJ99794|LEKTI|LETKI|NETS|NS|VAKTI OTTHUMP00000165952|OTTHUMP00000223888|lympho-epithelial Kazal-type-related inhibitor|lymphoepithelial Kazal-type-related inhibitor|serine protease inhibitor Kazal-type 5|serine protease inhibitor, Kazal type 5|serine protease inhibitor, kazal type 5 protein-coding 1601681 SPINK5L2 Kazal type serine protease inhibitor 5-like 2 15060002 408187 AC116334,BN000355,NM_001001325 CAE51407,Q6IE38,AAI41496,AAI48776,NP_001001325 Hs.553815 SPINK5L2 Kazal type serine protease inhibitor 5-like 2|putative serine protease inhibitor Kazal-type 5-like 2|serine protease inhibitor Kazal-type 14 protein-coding 1351307 SPINK6 serine peptidase inhibitor, Kazal type 6 1303943 15489334,15340161,15060002,12975309,12477932,11329013,20667819 1303943 404203 NM_205841,AC011346,CH471062,AY358716,BC032003,BE122852,GQ504704,GQ504705,NM_001195290 NP_995313,EAW61813,EAW61814,AAQ89078,AAH32003,Q6UWN8,ADM46526,ADM46527,NP_001182219 Hs.334274 BUSI2|MGC21394|UNQ844 OTTHUMP00000223887|acrosin inhibitor|protease inhibitor H|serine protease inhibitor Kazal-type 6|serine protease inhibitor, Kazal type 6 protein-coding 1606769 SPINK7 serine peptidase inhibitor, Kazal type 7 (putative) 12970870,18824154,18618216,18162463,17693286,17602171,17418617,17352218,15489334,14639608,12975309,12646258,12477932,19717562,19796867 84651 NM_032566,AC091948,CH471062,AF268198,AY359072,BC109385,BC110067 NP_115955,EAW61810,AAK27795,AAQ89431,AAI09386,AAI10068,P58062 Hs.244569 ECG2|ECRG2|MGC133105|MGC133106 ECRG-2|esophagus cancer related gene 2|esophagus cancer-related gene 2 protein|esophagus cancer-related gene-2|serine protease inhibitor Kazal-type 7 protein-coding 1606051 SPINK8 serine peptidase inhibitor, Kazal type 8 (putative) 16930550,20379614 646424 NM_001080525,AC105267 NP_001073994,P0C7L1 Hs.257687 serine protease inhibitor Kazal-type 8 protein-coding 1603723 SPINK9 serine peptidase inhibitor, Kazal type 9 12477932,19502653,19190773,19194479 643394 NM_001040433,AC091948,AY396740,BC137530,BC137531 NP_001035523,AAR91618,AAI37531,AAI37532,Q5DT21 Hs.631798 LEKTI2 OTTHUMP00000223923|lymphoepithelial Kazal-type-related inhibitor 2|serine protease inhibitor Kazal type 9|serine protease inhibitor Kazal-type 9 protein-coding 1315316 SPINLW1 serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin) This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 17207965,18645681,18331357,15590901,15489334,15229136,12909348,12477932,12206714,11780052,11404006,19801569,20158997,20488803,19889947,17566290,17567961,17644992,17928628,18466682,20005859,20505168,20800364 57119 NM_020398,NM_181502,AL031663,CH471077,AF286368,AF286369,AF286370,AK126022,AK311906,AL118493,BC003675,BC044829,BC053369,DC395362 ADQ32986,NP_065131,CAB37635,CAC36265,EAW75831,EAW75832,AAG00546,AAG00547,AAG00548,BAG54278,BAG34847,CAB56343,AAH03675,AAH44829,AAH53369,O95925,NP_852479,CAX15208 Hs.121084 CT71|CT72|EPPIN|EPPIN1|EPPIN2|EPPIN3|WAP7|WFDC7|dJ461P17.2 CT71|OTTHUMP00000031137|WAP four-disulfide core domain 7|WAP four-disulfide core domain protein 7|cancer/testis antigen 71|cancer/testis antigen 72|epididymal protease inhibitor|eppin|protease inhibitor WAP7|serine protease inhibitor-like with Kunitz and WAP domains 1|serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin) protein-coding 1606832 SPINT1 serine peptidase inhibitor, Kunitz type 1 The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq] 20716618,11013244,15713485,9045658,18029348,19223533,19148468,18813126,18769935,18713750,17981575,17786295,17389401,16820046,16713569,16341674,16273651,16103126,15994391,15489334,15340161,15231748,12975309,12815039,12477932,11290548,11201608,10824123,10544273,10373425,10219059,9743567,20696767,16044910,19222607,19535514,19578736,20977675 6692 AY358969,BC004140,CR611994,NM_181642,NM_003710,NM_001032367,AC012476,CH471125,AB000095,AI684245,AK300195,AK303899,AK314825,AY296715,BC018702,BE871002,BM763214,BT007425,CR593471,CR596666,CR606886,CR611481,CR614219,CR621611,CR625047,CR626224 NP_857593,NP_003701,NP_001027539,EAW92457,EAW92458,BAA25014,BAG61968,BAG64831,BAG37346,AAP44001,AAQ89328,AAH04140,AAH18702,AAP36093,O43278,ABM81673,ABM83219,ABM86419 Hs.233950 HAI|HAI1|MANSC2 HAI-1|hepatocyte growth factor activator inhibitor 1|hepatocyte growth factor activator inhibitor type 1|kunitz-type protease inhibitor 1|serine protease inhibitor, Kunitz type 1 protein-coding 1351424 SPINT2 serine peptidase inhibitor, Kunitz type, 2 1580863 9434156,11606055,18029348,9346890,9115294,19185281,19148468,19107935,19047176,18713750,18689863,18358501,17255277,16353247,16236267,15930277,15717269,15489334,15388859,15340161,14734471,14695180,14558597,12571229,12569552,12553733,12522575,12477932,12211652,12180971,11777908,11013244,9359851,9045658,8895530,8601712,20063316,20687215,10824123,16364318,20009592 10653 AC011479,NM_021102,CH471126,AB006534,AF027205,AK127479,AK291532,AK297154,BC001668,BC007705,BC011951,BC011955,BC012868,BT020115,BT020116,BT020117,CR407604,CR593344,CR596882,CR598970,CR600601,CR600684,CR602617,CR605387,CR606163,CR607672,CR609125,CR609538,CR609699,CR612643,CR614035,CR617991,CR618227,CR618416,CR620830,CR622436,CR625765,U78095,Z36849,AF231020,AI199013,AW275313,NG_013372,NM_001166103 NP_066925,EAW56766,EAW56767,BAA25024,AAB84031,BAF84221,BAG59653,AAH01668,AAH07705,AAH11951,AAH11955,AAH12868,AAV38918,AAV38919,AAV38920,CAG28532,AAC02781,O43291,Q6LEU8,NP_001159575 Hs.31439 DIAR3|FLJ45571|HAI-2|HAI2|Kop|PB hepatocyte growth factor activator inhibitor type 2|kunitz-type protease inhibitor 2|placental bikunin|serine protease inhibitor, Kunitz type, 2|serine protease inhibitor, kunitz type, 2 protein-coding 1353929 SPINT3 serine peptidase inhibitor, Kunitz type, 3 1580863 17589793,11780052,11549316,20171287 10816 NM_006652,AL031663,X77166,AY372172,BX088813 NP_006643,CAB37639,CAA54410,P49223,AAR17081 Hs.370724 HKIB9 kunitz-type protease inhibitor 3|serine protease inhibitor Kunitz type 3|serine protease inhibitor, Kunitz type, 3|serine protease inhibitor, kunitz type, 3 protein-coding 1603467 SPINT4 serine peptidase inhibitor, Kunitz type 4 391253 NM_178455,AL109656,CH471077,AY372173,AY372174 NP_848550,EAW75818,AAR17082,AAR17083,Q6UDR6 Hs.677891 C20orf137|SPINT3|dJ601O1.1 kunitz-type protease inhibitor 4|serine protease inhibitor, Kunitz type 1|serine protease inhibitor, Kunitz type 4 protein-coding 1354236 SPIRE1 spire homolog 1 (Drosophila) Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM] 17353931,18042452,16344560,14702039,12477932,11747823,10574461,15778465,19605360,20379614 56907 NM_020148,NM_001128626,NM_001128627,AP001028,AP001029,AP005482,CH471113,AB032961,AJ277587,AK025433,AK090999,AK290180,AK301711,AL833817,BC016825,BC115005,BC125206,BC125207,DB056921,DB506330,DR001109 NP_064533,NP_001122098,NP_001122099,EAX01544,EAX01545,EAX01546,BAA86449,CAB96370,BAF82869,BAG63182,CAD38680,AAH16825,AAI15006,AAI25207,AAI25208,Q08AE8,Q96AS4 Hs.515283 MGC150621|MGC150622|Spir-1 OTTHUMP00000204688|protein spire homolog 1 protein-coding 1314110 SPIRE2 spire homolog 2 (Drosophila) 14702039,12477932,11347906,19605360 84501 NM_032451,AC092385,CH471184,AB058735,AJ422077,AK094918,AK130685,AL834408,BC011119,BC063706,BC111030,BC139732,BX439688,CR593729 NP_115827,EAW66680,EAW66681,EAW66682,BAB47461,CAD19439,BAG52954,CAD39070,AAH63706,AAI11031,AAI39733,Q8WWL2 Hs.461786 MGC117166|Spir-2 protein spire homolog 2 protein-coding 737577 SPN sialophorin Sialophorin (leukosialin) is a major sialoglycoprotein on the surface of human T lymphocytes, monocytes, granulocytes, and some B lymphocytes, which appears to be important for immune function and may be part of a physiologic ligand-receptor complex involved in T-cell activation.[supplied by OMIM] 2306199,1580863,2303983 10899905,10753822,2023632,18678668,18586676,18227725,17996943,17979485,17891181,16757688,16751378,16269612,15522211,15489334,15449712,15280197,15187099,15003504,14719063,14676827,12902492,12820726,12626536,12499775,12477932,12411317,12045189,11773067,11238599,10908570,10490978,9616160,9603925,9472040,8858161,2950285,2784859,2521952,2241892,1827122,1731338,1301183,8554898,1683685 2306199,2303983 6693 NM_001030288,NM_003123,AC009086,CH471238,M61827,X52075,AK292626,AK313750,BC012350,BC035510,CR601465,J04536,X60502 NP_001025459,NP_003114,EAW80015,EAW80016,AAA51949,CAA36294,BAF85315,BAG36490,AAH12350,AAB59540,P16150,ABM83188,ABM86390 Hs.632188 CD43|GPL115|LSN GALGP|OTTHUMP00000196610|galactoglycoprotein|leukocyte sialoglycoprotein|leukosialin|sialophorin|sialophorin (gpL115, leukosialin, CD43)|sialophorin (leukosialin, CD43) protein-coding 1602314 SPNS1 spinster homolog 1 (Drosophila) 12815463,14702039,12477932,11340170,11256614 83985 NM_032038,NM_001142451,NM_001142449,NM_001142450,NM_001142448,AC109460,CH471267,AB209402,AF212371,AF370423,AK095677,AK289787,AL390215,AL524908,BC006156,BC008325,BC038961,BC047741,BC065235,BG771918,CD368853,CR591379,CR596645,CR611391 EAW52018,NP_114427,NP_001135923,NP_001135921,NP_001135922,NP_001135920,EAW52016,EAW52017,EAW52019,EAW52020,EAW52021,EAW52022,EAW52023,BAD92639,AAG43830,AAQ15259,BAC04603,BAF82476,CAB99229,AAH06156,AAH08325,AAH38961,AAH47741,AAH65235,Q59FQ8,Q9H2V7 Hs.617449 FLJ38358|HSpin1|LAT|PP2030|SPIN1|SPINL|nrs protein spinster homolog 1|spinster-like protein 1 protein-coding 1625643 SPNS2 spinster homolog 2 (Drosophila) 19074308,12815463,12477932 124976 NM_001124758,AC118754,AB441165,BC041772,BC065221,CR602862 NP_001118230,BAH15192,AAH41772,Q8IVW8 Hs.22824 protein spinster homolog 2 protein-coding 1601816 SPNS3 spinster homolog 3 (Drosophila) 17714910,12477932,20379614 201305 NM_182538,AC116910,AC127521,CH471108,AK172832,BC023646,CR593280,CR606228,CR611034,CR614611,CR618257,CR624976 NP_872344,EAW90439,EAW90440,BAD18797,AAH23646,Q6ZMD2 Hs.657543 MGC29671 protein spinster homolog 3 protein-coding 1315081 SPO11 SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq] 1580863 10534401,18166824,16169419,15489334,12477932,11780052,11106738,10622720,20378615,20379614 23626 NM_012444,NM_198265,AL135939,AY957583,CH471077,AF149310,AF169385,BC033591 NP_036576,NP_937998,CAI21519,CAI21520,CAI21521,CAI21522,AAX44047,EAW75526,EAW75527,AAD44812,AAD52562,AAH33591,Q5TCH6,Q5TCH7,Q9Y5K1 Hs.159737 CT35|MGC39953 OTTHUMP00000031363|SPO11 meiotic protein covalently bound to DSB-like|SPO11, meiotic protein covalently bound to DSB-like|cancer/testis antigen 35|meiotic recombination protein SPO11|spo11 meiotic protein covalently bound to dsb-like (s. cerevisiae) protein-coding 1345460 SPOCD1 SPOC domain containing 1 737633 14702039,12477932 737633 90853 AL354919,CH471059,AK058077,AK091016,AK095829,AK097227,AK131447,BC007910,BC029069,BC039870,NM_144569,BC114430,CR600020 NP_653170,CAI16891,CAI16892,EAX07586,EAX07587,EAX07588,BAB71652,BAC03567,BAC04981,BAD18592,AAH07910,AAH29069,AAI14431,Q05C62,Q6ZMY3,Q96I05,AAH39870 Hs.62604 FLJ25348|FLJ39908|RP11-84A19.1 OTTHUMP00000003954|SPOC domain-containing protein 1 protein-coding 1322984 SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq] 1580863 8389704,9181134,19282985,16596217,15372022,14702039,12810672,12477932,11355883,11131125,9545645,9323035,9272383,8626787,7507743,20379614 6695 NM_004598,AC004592,AC005213,AC091818,AC092270,AC106746,AC106787,AC106809,CH471062,AB209701,AF231124,AI674088,AK094489,BC030691,BG704964,BI550122,CR606032 NP_004589,AAC14063,AAC24945,EAW62185,EAW62186,BAD92938,AAF43687,BAG52875,AAH30691,O60400,Q08629,ABM81840,ABM84991 Hs.596136 FLJ37170|SPOCK|TESTICAN|TIC1 OTTHUMP00000159433|sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)|testican-1 protein-coding 1318416 SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 Proteoglycans, which consist of a core protein and covalently linked glycosaminoglycans, are components of the extracellular matrix. SPOCK2 encodes a member of a novel Ca(2+)-binding proteoglycan family.[supplied by OMIM] 1580863 9039502,10386950,18398821,17950619,17081983,15489334,15340161,12975309,12810672,12477932,12421765,15342556,16344560,16385451 9806 NM_014767,AC022392,CH471083,AJ001453,AK292328,AY358921,BC023558,CR611409,D87465,AA922448,AK294008,AK307091,BP252465,BQ002304,DA150747,DC305070,NM_001134434,AW026489 NP_055582,EAW54441,EAW54442,EAW54443,CAA04774,BAF85017,AAQ89280,AAH23558,BAA13404,Q92563,ABM84313,ABM87706,BAG57370,NP_001127906 Hs.523009 FLJ97039|testican-2 OTTHUMP00000019778|SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 2|testican-2 protein-coding 1313840 SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 Proteoglycans, which consist of a core protein and covalently linked glycosaminoglycans, are components of the extracellular matrix. SPOCK3 encodes a member of a novel Ca(2+)-binding proteoglycan family.[supplied by OMIM] 1580863 17207965,19144404,15489334,14702039,12975309,12477932,11751414,12810672,20379614 50859 NM_016950,AC010103,AC020599,AC023492,AC107210,CH471056,AB056866,AJ001454,AK091078,NM_001040159,AK294293,AK294346,AK294637,AK295015,AK295281,AK295407,AK295414,AK296291,AK313042,AY358973,BC000460,BC003017,BC013983,BI603782,CR607485 ADQ32173,NP_001035249,NP_058646,AAY40993,AAY40960,EAX04811,EAX04812,BAB64908,CAA04775,BAG52279,BAG57576,BAG57615,BAG57816,BAG58075,BAG58265,BAG58358,BAG58364,BAG58995,BAG35874,AAQ89332,AAH00460,AAH03017,AAH13983,Q4W5E2,Q4W5S3,Q9BQ16 Hs.481133 HSAJ1454|TES-3 OTTHUMP00000219853|OTTHUMP00000219857|OTTHUMP00000219862|OTTHUMP00000219864|OTTHUMP00000219865|OTTHUMP00000219866|OTTHUMP00000219867|OTTHUMP00000219868|SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 3|testican 3|testican-3 protein-coding 1343453 SPON1 spondin 1, extracellular matrix protein 18780763,18602404,16965763,16303743,16103746,15489334,14983046,14702039,12477932,12168954,12096136,11368520,9872452,8889548,1555244,20379614 10418 NM_006108,AC011084,AC074191,AC099738,CH471064,CQ783692,AB018305,AB051390,AI424944,AK001584,AK074803,AK291780,BC019825,BC041974,BC136513,BC136563,BM671036,CR601227 NP_006099,EAW68488,EAW68489,CAF86814,BAA34482,BAB18461,BAG50943,BAC11217,BAF84469,AAH19825,AAH41974,AAI36514,AAI36564,Q3ZCT3,Q9HCB6 Hs.643864 KIAA0762|MGC10724|f-spondin VSGP/F-spondin|spondin 1, (f-spondin) extracellular matrix protein|spondin-1|vascular smooth muscle cell growth-promoting factor protein-coding 1352786 SPON2 spondin 2, extracellular matrix protein 1580863 10512675,19153605,18239089,16368877,16344560,16303743,15489334,15094111,14702039,12975309,12477932,20379614,19903741 10417 NM_012445,AC092535,CH471131,CQ782706,AB027466,AK024499,AK074618,AK074770,AK130164,AY358948,BC002707,BC036341,BY797606,CR592321,CR593652,CR594320,CR595091,CR596195,CR596311,CR596362,CR597252,CR604996,CR607322,CR608748,NM_001128325,AA864573,CB104725,DA087369,DA201089,DA375259,DB249869,DB254983,NM_001199021,NR_033182,AK026054,BC086866,CR610928,CR612649,CR626363,DA092888 NP_001121797,NP_036577,AAY40988,EAW82604,EAW82605,EAW82606,CAF85941,BAA85892,BAB15789,BAC11092,BAC11196,AAQ89307,AAH02707,AAH36341,NP_001185950,Q9BUD6,Q9H7I1 Hs.302963,Hs.635350 DIL-1|DIL1|DKFZp686G21139|FLJ16313|FLJ22401|FLJ34460|M-SPONDIN|M-spondin|MINDIN|Mindin differentially expressed in cancerous and non-cancerous lung cells 1|spondin-2 protein-coding 1323163 SPOP speckle-type POZ protein This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1580863 14702039,12740575,12477932,12426565,12426564,12183056,11279055,11076863,10426994,9373149,8889548,8125298,17353931,9414087,19164706,18997279,18218622,16740475,16651542,16524876,16381901,16189514,15897469,15489336,15489334,15240113,15121856,19818708,20379614 8405 BC001269,AW449169,BC003385,BM693397,BQ226031,BX282325,CB992730,CR590571,CR592684,CR595427,CR595475,CR603514,CR610467,W84567,NM_001007228,NM_001007229,NM_001007227,NM_001007230,NM_003563,NM_001007226,AC006487,AC015795,CH471109,AJ000644,AK123385,AK222589,AK293045,AK293587,AK300616,AK303268,AK312691,AK316366 BAH14737,AAH01269,AAH03385,O43791,CAL37466,CAL37521,CAL37609,CAL37886,CAL38444,CAL38701,NP_001007229,NP_001007230,NP_001007228,NP_001007231,NP_003554,NP_001007227,EAW94671,EAW94672,EAW94673,EAW94674,EAW94675,CAA04199,BAD96309,BAF85734,BAG57055,BAG62309,BAG64350,BAG35570 Hs.463382 TEF2 HIB homolog 1|OTTHUMP00000220321|OTTHUMP00000220322|OTTHUMP00000220351|OTTHUMP00000220425|OTTHUMP00000220426|OTTHUMP00000220430|OTTHUMP00000220431|roadkill homolog 1|speckle-type POZ protein protein-coding 1605812 SPOPL speckle-type POZ protein-like 16740475,16651542,15489334,15146197,14702039,12477932,17207965 339745 NM_001001664,AC092620,AC114763,CH471058,AA737682,AK094583,AK293850,BC071613,BX538143,CD643025,CN315400 NP_001001664,EAX11609,BAG57248,AAH71613,Q6IQ16,ADQ31920 Hs.333297 FLJ53775 HIB homolog 2|roadkill homolog 2|speckle-type POZ protein-like protein-coding 736066 SPP1 secreted phosphoprotein 1 1581118,1581125,1581321,1581322,1581323,1581324,1581325,1581326,1581327,1581328,1581329,1581330,1581331,1581332,1581333,1581334,1581335,1581336,1581337,1581338,1581339,1581341,1581342,1581343,1581357,1581358,1581359,1581360,1581361,1581362,1581363,1581364,1581365,1581366,1581367,1581368,1581369,1581370,1581371,1581372,1581374,1581375,1581381,1581382,1581383,1581386,1581390,1581391,1581472,1580863 19913121,20384635,20628086,20628624,20634891,17418101,17384004,17369493,17360982,17343740,17332338,17316167,17289872,17245215,17227585,17189522,17188882,17170369,17130676,17110905,17044113,17022822,17005603,16962083,16880782,16830223,16817793,16807684,16797773,16786357,16765311,17244457,20086024,20207476,20576283,20545695,20598232,20511184,20868520,20796249,20138033,20459645,17439891,16807238,16741188,15744522,11807984,16720713,19475568,19453261,19369471,19366056,19359522,19346516,19340392,19339987,19337795,19287188,19285954,19285424,19285028,19281985,19246678,19217889,19212618,19208558,19184356,19138884,19076536,19048398,19028408,19023151,19017937,19016748,19014781,19010864,19010227,18997126,18996613,18972404,18952835,18949741,18807011,18787423,18722093,18701136,18694758,18694621,18676742,18670302,18660489,18651220,18629582,18616394,18593988,18550471,18549897,18549690,18537194,18524812,18508510,18493866,18480255,18474739,18470911,18459127,18443355,18442196,18413297,18410276,18406574,18396783,18393978,18388057,18353318,18335026,18317949,18210151,18197854,18181047,18178454,18174176,18167187,18162078,18160829,18158320,18155656,18085382,18079410,18072945,18053633,18048491,18037740,18004082,17987038,17960616,17938278,17898038,17896150,17884775,17852826,17848618,17721886,17706953,17696803,17689681,17620367,17595250,17565744,17548669,17545592,17519954,17496055,17493236,17482311,17482182,17464350,17452979,17444956,16713569,16633066,16632752,16614705,16571650,16533775,16512757,16489073,16433860,16428483,16424021,16381901,16373617,16344560,16331611,16303743,16299231,16208410,16204248,16199891,16189514,16166420,16145474,16136472,16100012,16047475,16009426,16005200,16000556,15998773,15998376,15993098,15970685,15956076,15954903,15949549,15885319,15869464,15868370,15863395,15857938,15855273,15845635,15776015,15761492,12620651,12606946,12569382,12527107,12506143,12477932,12456016,12377945,12142743,11979972,11968014,11940202,11933203,11928818,11926891,11861425,11854181,11825898,15742430,15742429,15731245,15712659,15696579,15692970,15579312,15501463,15494684,15489336,15489334,15479859,15389974,15167446,15101999,15019804,15014008,15004750,15003892,14996707,14990565,14988426,14716823,14706653,14704150,14592838,14563350,14534308,14524533,14517343,12952171,12949055,12939547,12928913,12927044,12879219,12847283,12842452,12771144,12761568,12706004,12650611,12650610,12640447,11076863,10835423,10766759,10751402,10748043,10698186,10657301,10593924,9110174,8910476,8835534,8663267,8619474,8535605,8325891,8195113,7945249,7837791,7665163,7592829,7532190,7522656,2808373,2736258,2726470,2404984,1974876,1729712,1575754,11162551,11801541,11787071,11721059,11696986,11375993,16712791,19602039,20592361,19538464,20533542,20659235,18627421,19781269,20823889,20074733,20819778,20967421,21044748,21067798,19740309,19763701,19767100,19780053,19783881,19784742,19790060,19798549,19804447,19805619,19806573,19834535,19850036,19854170,19885563,19887478,19901966,19948844,20004120,20007708,20008129,20019131,20019453,20056178,20071328,20075512,20085934,20101228,20131968,20144595,20150368,20219412,20377868,20378012,20416077,20453000,20505679,9547293,9614184,20224789,20486203,20849637,20890897,19813107,20638909,10673366,16169070,17253181,18210878,18563556,18682895,19260859,19301019,19365701,19376608,19400906,19476604,19528482,19549529,19556240,19562270,19565503,19581305,19597469,19601999,19603104,19609729,19609945,19634115,19638732,19694703,19706414,19720619 1581118,1581125,1581321,1581322,1581323,1581324,1581325,1581326,1581327,1581328,1581329,1581330,1581331,1581332,1581333,1581334,1581335,1581336,1581337,1581338,1581339,1581341,1581342,1581343,1581357,1581358,1581359,1581360,1581361,1581362,1581363,1581364,1581365,1581366,1581367,1581368,1581369,1581370,1581371,1581372,1581374,1581375,1581381,1581382,1581383,1581386,1581390,1581391,1581472 6696 HI519544,CR608709,CR613156,NM_000582,NM_001040060,AC131944,CH471057,D14813,U20758,AA665210,AB209987,AB469789,AF052124,AK057738,AK075463,AK290090,AK290104,AK295491,AK296035,AK315461,AY956318,BC007016,BC017387,BC022844,BC093033,BF699765,BX648003,CB117856,CR590548,CR590765,CR591447,CR591466,CR591781,CR591902,CR592228,CR592500,CR593010,CR593792,CR593987,CR594254,CR594618,CR594667,CR594911,CR594979,CR595305,CR596445,CR596475,CR597399,CR597759,CR599125,CR600336,CR600682,CR600714,CR600744,CR601143,CR601537,CR602328,CR602900,CR603218,CR603247,CR604739,CR605902,CR606646,CR607920,CR608403,NM_001040058,CR608820,CR609665,CR610220,CR610252,CR610312,CR610546,CR610609,CR610632,CR610677,CR611180,CR612096,CR612661,CR612712,CR613043,CR613121,CR613454,CR613613,CR614122,CR614125,CR614191,CR615073,CR615383,CR615698,CR616615,CR616812,CR617116,CR617515,CR618080,CR618220,CR618369,CR618594,CR618956,CR619414,CR619578,CR619881,CR620974,CR621274,CR621360,CR621428,CR621889,CR622075,CR623036,CR624029,CR624157,CR624176,CR624416,CR624537,CR624945,CR625643,CR625710,CR626471,CR626718,D28759,D28760,D28761,DA419665,DQ839491,DQ846870,DQ846871,J04765,M83248,X13694,CR625747,GN077143 CBX54353,NP_001035147,NP_000573,NP_001035149,AAY41035,EAX06004,EAX06005,EAX06006,EAX06007,EAX06008,EAX06009,EAX06010,BAA03554,AAA86886,BAE45628,BAH58215,AAC28619,BAC11635,BAF82779,BAF82793,BAH12087,BAG58801,BAG37848,AAX59003,AAH07016,AAH17387,AAH22844,AAH93033,ACE86697,BAA05949,BAA05950,BAA05951,ABI63352,ABI63357,ABI63358,AAA59974,AAA17675,CAA31984,P10451,Q3LGB0,Q4W597,Q567T5,CAL37646,CAL37776,ABM83470,ABM86681,ACE87381,CAX69239 Hs.313 BNSP|BSPI|ETA-1|MGC110940|OPN OTTHUMP00000218556|SPP-1|SPP1/CALPHA1 fusion|bone sialoprotein 1|bone sialoprotein I|early T-lymphocyte activation 1|nephropontin|osteopontin|osteopontin/immunoglobulin alpha 1 heavy chain constant region fusion protein|secreted phosphoprotein 1|secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)|secreted phosphoprotein-1 (osteopontin, bone sialoprotein)|urinary stone protein|uropontin protein-coding 1344565 SPP2 secreted phosphoprotein 2, 24kDa This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq] 1580863 9533032,7814406,19375587,19240061,15815621,15489334,15062857,12477932,20548944 6694 NM_006944,NG_008668,AC006037,AJ272265,CH471063,AJ308099,BC069401,BC106705,BC112438,BC113972,CR607621,U20530 AAX93090,CAB75571,EAW71070,CAC87050,AAH69401,AAI06706,AAI12439,AAA87905,Q13103,NP_008875 Hs.444488 SPP24 OTTHUMP00000203243|secreted phosphoprotein 24|spp-24 protein-coding 1602994 SPPL2A signal peptide peptidase-like 2A This gene is a member of the signal peptide peptidase-like protease (SPPL) family and encodes an endosomal membrane protein with a protease associated (PA) domain. This protein plays a role in innate and adaptive immunity. A pseudogene of this gene also lies on chromosome 15. 17965014,17557115,16829952,16344560,16303743,16189514,15489334,15385547,14702039,12477932,12139484,12077416 84888 NM_032802,AC012100,CH471082,AA988423,AJ345028,AJ420896,AK027446,AK075454,AK315651,AY169314,BC025740,CR626792,DA023801 NP_116191,EAW77410,CAC87789,CAD13133,BAB55117,BAC11630,BAG38017,AAO12539,AAH25740,Q8TCT8 Hs.401537 IMP3|PSL2 IMP-3|SPP-like 2A|intramembrane cleaving protease|intramembrane protease 3|presenilin-like protein 2|signal peptide peptidase-like 2A protein-coding 1601988 SPPL2B signal peptide peptidase-like 2B This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 18768471,17965014,16829952,16829951,15998642,15489334,15385547,15057824,12477932,12139484,12077416,10819331,8889548 56928 NM_001077238,NM_152988,AC004410,AC005258,CH471139,AB040965,AJ345027,AJ420897,AK226130,AK309122,AL365405,AY169315,BC001788,BC028391,BC093046,BU733058,CR602216,CR613332,CR624124 NP_001070706,NP_694533,AAC05601,AAG45441,EAW69383,EAW69384,EAW69385,EAW69386,EAW69387,EAW69388,BAA96056,CAC87788,CAD13134,CAB96951,AAO12540,AAH01788,AAH28391,AAH93046,Q8TCT7 Hs.330742 IMP4|KIAA1532|MGC111084|PSL1 IMP-4|SPP-like 2B|intramembrane protease 4|presenilin-like protein 1|signal peptide peptidase-like 2B protein-coding 1605007 SPPL3 signal peptide peptidase 3 16873890,9373149,18978678,15998642,15489334,15385547,14702039,12975309,12477932,12139484,12077416,8125298,20634891,19197348,20379614 121665 AC069214,AC069234,AL834399,CH471054,NM_139015,AB252457,AF086117,AI676074,AJ345030,AJ420898,AK074916,AK097149,AK223590,AK291161,AL110147,AY169313,AY358767,BC009551,BC025781,BC073910,BC101625,BC101627,BU932077,BX640849,CR595697,CR612222,CR620843,CR626296 EAW98221,NP_620584,EAW98220,EAW98222,EAW98223,BAF30928,CAC87791,CAD13135,BAC11290,BAD97310,BAF83850,CAB53661,AAO12538,AAQ89127,AAH09551,AAH25781,AAH73910,AAI01626,AAI01628,Q3MJ04,Q53EP9,Q6UWJ2,Q8TCT6,Q9UG23 Hs.507087,Hs.683964 DKFZp586C1324|IMP2|MDHV1887|MGC126674|MGC126676|MGC90402|PRO4332|PSL4 IMP-2|SPP-like 3|intramembrane protease 2|presenilin-like protein 4|signal peptide peptidase-like 3 protein-coding 1346391 SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq] 1600054,1580863 1883349,9792819,15197144,19491146,19415819,19027726,18502672,17270157,17188538,16443856,15489334,15241655,12477932,11825621,11443547,10384371,9700606,9373149,8440319,8304109,8125298,7782081,3536512,19674121,20038947,20337188,20877624 1600054 6697 NM_003124,NG_008234,AB017547,AB017548,AC012366,AC092630,CH471053,AK222942,AK291856,BC017310,BF434649,M76231,S71376 NP_003115,BAA34534,BAA34535,AAY14743,AAY15035,EAW99757,EAW99758,BAD96662,BAF84545,AAH17310,AAA60314,AAD14079,P35270,Q93041,Q9UEC5,ABM82625,ABM85806 Hs.301540 SDR38C1 sepiapterin reductase|short chain dehydrogenase/reductase family 38C, member 1 protein-coding 1318683 SPRED1 sprouty-related, EVH1 domain containing 1 The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq] 19913121,20628086,17094949,19366998,19443465,19920235,20339110,19120036,18216281,17974561,17704776,17672918,16652141,16344560,16115197,15683364,15465815,15231748,14702039,12646235,12477932,11493923 161742 NM_152594,NG_008980,AC069381,AL833561,CH471125,AK091222,AK095219,AY299089,BC018015,BC137480,BC137481,BX538234,DA405650 NP_689807,EAW92368,BAC03614,AAP59414,AAH18015,AAI37481,AAI37482,Q7Z699 Hs.525781 FLJ33903|NFLS EVH1/Sprouty domain containing protein|hSpred1|spred-1|sprouty-related, EVH1 domain-containing protein 1|suppressor of Ras/MAPK activation protein-coding 1319580 SPRED2 sprouty-related, EVH1 domain containing 2 SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM] 1580863 20677014,19120036,17094949,16652141,20973039,19822672,19908229,20379614,20453842,16344560,15946934,15683364,15580519,15489334,15465815,15213456,15184877,14981116,14702039,12646235,12477932,11493923,9110174,8619474,17974561 200734 NM_181784,NM_001128210,AC012370,AC097503,CH471053,AF052178,AK025550,AK056479,AK299079,AK307714,AY299090,BC029300,BC111495,BC130292,BC136334,CR609442,DA102390,DC335282 NP_861449,NP_001121682,EAW99904,EAW99905,EAW99906,BAG51727,BAH12943,AAP59415,AAI11496,AAI30293,AAI36335,Q7Z698,ADR83003 Hs.59332 FLJ21897|FLJ31917|MGC163164|Spred-2 OTTHUMP00000202297|sprouty protein with EVH-1 domain 2, related sequence|sprouty-related, EVH1 domain-containing protein 2 protein-coding 1606081 SPRED3 sprouty-related, EVH1 domain containing 3 SPRED3 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM] 12477932,17094949,16478641,15465815,14618415,12646235 399473 NM_001042522,NM_001039616,AC005789,BC151136,DQ323927,DQ323928 NP_001035987,NP_001034705,AAI51137,ABC54711,ABC54712,Q2MJR0,Q2MJR1 Hs.448932 Eve-3 spred-3|sprouty-related, EVH1 domain-containing protein 3 protein-coding 1602790 SPRN shadow of prion protein homolog (zebrafish) 20379614,18805828,18778261,15342797,14527721,12477932,9776767,8889548,19913121,20628086 503542 NM_001012508,AL161645,BN000518,AK123191,AW293555,BC040198,CD580523 NP_001012526,CAG34288,AAH40198,Q5BIV9 Hs.64968 FLJ41197|SHADOO|SHO|bA108K14.1 protein shadoo|shadow of prion protein protein-coding 1320715 SPRR1A small proline-rich protein 1A 1580863 10908733,15489334,12477932,11850458,11279051,11076863,10066784,9931436,9115270,9008234,8018055,7829876,8325635,18643845,19601998,19672094 6698 NM_005987,AL356867,AY755659,CH471121,L05187,AW204307,BC105081,BC105083,S73288,NM_001199828 NP_005978,CAI19801,AAU88143,EAW53355,EAW53356,EAW53357,AAC26838,AAI05082,AAI05084,P35321,AAI11840,NP_001186757 Hs.46320 SPRK 19 kDa pancornulin|OTTHUMP00000016121|SPR-IA|cornifin A|cornifin-A|small proline-rich protein IA protein-coding 1323772 SPRR1B small proline-rich protein 1B (cornifin) 1580863 10908733,1627333,1438308,18172072,16710414,15489334,12477932,12091247,9115270,12832281,8889548,8631988,8388378,8325635,7829876,3133554,1482123,18643845,19601998 6699 NM_003125,AL356867,AY787223,CH471121,M84757,BC056240,CK300778,DQ323996,M19888,M21300,M21301 NP_003116,CAI19805,AAV40826,EAW53351,AAA36643,AAH56240,ABC88598,AAA36636,AAA36637,AAA36638,P22528,Q2I377,AAI56327,AAI57077 Hs.1076 CORNIFIN|GADD33|MGC61901|SPRR1 14.9 kDa pancornulin|SPR-IB|cornifin B|cornifin-B|small proline-rich protein 1B (cornifin)|small proline-rich protein IB protein-coding 1352721 SPRR2A small proline-rich protein 2A 1580863 12624109,8325635,16639001,18155796,16710414,15489334,15232223,12477932,10737800,9826750,8999895,8816448,2388825,18643845 6700 NM_005988,AL356867,CH471121,X53064,AK311939,BC096108,BC096109,BC096110,BC096111,BC128049,BE710686,CA433267 NP_005979,CAI19807,EAW53346,EAW53347,CAA37239,BAG34880,AAH96108,AAH96109,AAH96110,AAH96111,AAI28050,P35326 Hs.355542 2-1|SPR-2A|small proline-rich protein 2A protein-coding 1348618 SPRR2B small proline-rich protein 2B 1580863 8325635,16710414,16639001,15232223,14748073,11279051,9722562,3133554,18643845 6701 NM_001017418,AF333952,AL356867,CH471121,L05188,CS673554,CS690937,FB665690,GM706902,AL139417 NP_001017418,AAK70940,CAI19808,EAW53345,AAA60576,P35325,AAI48720,CAP07544,CAP11512,CAR97127,CAT82408 Hs.568239 OTTHUMP00000015752|SPR-2B|small proline-rich protein 2B protein-coding 1345846 SPRR2C small proline-rich protein 2C (pseudogene) 1580863 15232223,11279051,8325635,3133554,16169070,12477932 6702 NR_003062,AF333953,AL157405,L05190,BC120937,M21539 AAA66001,Q15515 Hs.2421 small proline-rich protein 2C pseudo 1344812 SPRR2D small proline-rich protein 2D 8325635,3133554,16639001,16710414,15232223,12786819,12477932,11329013,11279051,9888996,18643845 6703 AF333954,AL356867,CH471121,AI383975,AI860616,AK291317,BC093801,BC093803,BC120938,BG183546,M21302,NM_006945 AAK70941,CAI19806,EAW53348,EAW53349,EAW53350,BAF84006,AAI20939,AAA36640,P22532,AAI41464,NP_008876 Hs.505327 OTTHUMP00000016111|SPR-2D|SPR-II|small proline-rich protein 2D|small proline-rich protein II protein-coding 1354484 SPRR2E small proline-rich protein 2E 9722562,3133554,8325635,16710414,15232223,12477932,11279051,9888996,18643845 6704 NM_001024209,AF333955,AL139417,CH471121,BC058018,M20030 NP_001019380,AAK70942,CAI21953,EAW53344,AAA36639,P22531,AAI48549,AAI53137 Hs.568518 SPR-2E|SPR-II|small proline-rich protein 2E|small proline-rich protein II protein-coding 1350197 SPRR2F small proline-rich protein 2F 8325635,16710414,15232223,11279051,9888996,8340374,18643845 6705 NM_001014450,AF333956,AL139417,CH471121,X72500 NP_001014450,AAK70943,CAI21954,EAW53343,CAA51165,Q96RM1,AAI56789 Hs.490252,Hs.534032 SPR-2F|small proline-rich protein 2F protein-coding 1347541 SPRR2G small proline-rich protein 2G 8325635,16710414,15232223,12477932,11279051,9888996,18643845 6706 NM_001014291,AF333957,AL157405,CH471121,AA456642,AA490630,BC130455,BC133041 NP_001014313,AAK70944,CAI19766,EAW53341,Q9BYE4,AAI41501,AAI48781 Hs.490253 SPR-2G|small proline-rich protein 2G protein-coding 1354373 SPRR3 small proline-rich protein 3 1580863 20599699,10510474,9889002,8325635,18832573,17935133,16710414,16344560,15489334,15232223,15221970,14761935,14748073,12786819,12477932,12036303,11443109,11279051,11230159,10737800,9724607,8999895,8809402,8018055,7829876,18643845,19211270,20379613 6707 BF826427,BM955458,DA451130,DA763011,EF553525,NM_001097589,AF077374,AL356867,CH471121,DQ017955,AJ243667,AK311823,AY118269,BC017802,NM_005416 ABQ66270,Q9UBC9,NP_005407,NP_001091058,AAD11938,CAI19802,CAI19803,EAW53353,EAW53354,AAY26394,CAB65098,BAG34765,AAM74559,AAH17802 Hs.139322 22 kDa pancornulin|OTTHUMP00000015758|cornifin beta|esophagin|small proline-rich protein 3 protein-coding 1350265 SPRR4 small proline-rich protein 4 1580863 12477932,11719550,11279051,16710414,15489334,18643845 163778 NM_173080,AF335109,AL356867,CH471121,BC069445,BC069549,BC112170,BC112172 NP_775103,AAK96400,CAI19800,EAW53358,AAH69445,AAH69549,AAI12171,AAI12173,Q96PI1 Hs.433629 MGC138375|MGC138377 small proline rich protein 4|small proline-rich protein 4 protein-coding 1319561 SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 1580863 20628624,15950061,15489334,14533010,12869526,12477932,12402043,11983899,10887178,9458049,17974561,17207965,21048031,20813052,20054616,20696135,12593796,15962011,19164898,16954433,16877379,19915061,20068162,20237272 10252 HI574038,HI574040,NM_199327,NM_005841,AC026402,CH471056,AF041037,AK026960,AY192146,AY590694,BC063856 ADQ31953,CBX47508,CBX47509,NP_955359,NP_005832,EAX05209,EAX05210,EAX05211,AAC39566,AAP20102,AAT06102,AAH63856,O43609 Hs.436944 hSPRY1 OTTHUMP00000219790|OTTHUMP00000219791|OTTHUMP00000219792|protein sprouty homolog 1|sprouty, Drosophila, homolog of, 1 (antagonist of FGF signaling)|spry-1 protein-coding 1322949 SPRY2 sprouty homolog 2 (Drosophila) This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq] 1580863 20572854,20634891,9458049,12593796,15962011,19147787,19022413,19008219,18683950,18622748,18485666,18427547,18214995,18070883,18048363,17693063,20638779,20543868,20661223,17496316,17388787,17320394,17255109,16954433,16877379,16489004,16479008,16381901,16371366,16327884,16189514,16126775,16000370,15950061,15735753,15653567,15564375,15489336,15489334,15351707,15313890,15201220,15122328,15057823,15031289,12815057,12717443,12477932,12414790,17689925,17510316,12402043,12391162,12234920,11983899,11698404,11230166,11076863,11053437,10940627,10887178,18273061,19364817,19458088,19545245,19690147,19864419,20023658,20123980,20237272,17974561,20862305,16246327,20678191,21134562 10253 NM_005842,AL354668,CH471093,AF039843,AL713749,BC004205,BC015745,BX648582,CR599246 NP_005833,CAI14911,EAW80601,AAC04258,CAD28524,AAH04205,AAH15745,O43597,Q7Z783,CAL37872,CAL38475 Hs.18676 MGC23039|hSPRY2 protein sprouty homolog 2|sprouty 2|spry-2 protein-coding 1349769 SPRY3 sprouty homolog 3 (Drosophila) 1580863 9458049,16877379,16500999,15950061,15489334,14702039,12477932,12391162,10887178,10655549,17974561,17207965 10251 NM_005840,AJ271735,CH471247,AF041038,AK094610,AK125483,AK289543,BC069609,BC074972,BC074973 NP_005831,CAB96768,EAW55876,AAC39567,BAC86177,BAF82232,AAH69609,AAH74972,AAH74973,O43610,Q6ZUP3,ADQ32942 Hs.381912 HSPRY3 antagonist of FGF signaling|protein sprouty homolog 3|spry-3 protein-coding 1313286 SPRY4 sprouty homolog 4 (Drosophila) SPRY4 is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. It is positioned upstream of RAS (see HRAS; MIM 190020) activation and impairs the formation of active GTP-RAS (Leeksma et al., 2002 [PubMed 12027893]).[supplied by OMIM] 1580863 20543847,12027893,18298822,16877379,16465403,16388505,16344560,14977631,14702039,12717443,12477932,7566098,17974561,18273061,19483681,19483682,19761767,20501643,20482313 81848 NM_001127496,NM_030964,AC091825,AY538661,AF227516,AF251060,AK096464,AK226147,BC125095,BC125096,BP387943,CR605362,DA183391 NP_112226,NP_001120968,AAS46253,AAK00652,AAK34950,BAC04798,AAI25096,AAI25097,Q9BXY1,Q9C004 Hs.323308 OTTHUMP00000222780|protein sprouty homolog 4|spry-4 protein-coding 1602855 SPRYD3 SPRY domain containing 3 14702039,12477932,9110174,8619474,16344560,19615732 84926 AC068888,AC073573,CH471054,AF131774,AK027706,AK074566,AK074694,NM_032840,AK294092,BC019624,BC136312,CR619327,CA427084,DA389433 NP_116229,EAW96661,EAW96662,EAW96663,BAB55311,BAC11064,BAC11144,BAH11669,AAI36313,Q8N2P1,Q8NCJ5 Hs.343334 FLJ14800 SPRY domain-containing protein 3 protein-coding 1603522 SPRYD4 SPRY domain containing 4 20877624,17852359,16344560,15489334,12477932 283377 NM_207344,AC097104,CH471054,CS072397,AF289571,AF451989,AK074733,AK291920,AK300594,AL832247,BC020844,BX647957,CR597464,CR601006,CR618271,CR624785,DB041397 NP_997227,EAW96941,CAI93535,AAL55755,AAP97688,BAF84609,BAG62291,AAH20844,Q8WW59,Q8WZ21 Hs.128676 DKFZp686N0877 SPRY domain-containing protein 4 protein-coding 1350301 SPRYD5 SPRY domain containing 5 16189514,12477932 84767 CH471076,BC005014,DV080293,DV080294,NM_032681,AC036111 EAW73688,EAW73689,AAH05014,Q9BSJ1,NP_116070 Hs.326734 MGC10977|TRIM51 OTTHUMP00000209888|OTTHUMP00000210017|SPRY domain-containing protein 5|tripartite motif-containing 51|tripartite motif-containing protein 51 protein-coding 2311725 SPRYD5P SPRY domain containing 5 pseudogene 16554811 399937 NG_011760,AP004833,AP005435 A6NDQ2 pseudo 1604788 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 16710414,16498413,15713673,15489334,14702039,12477932,12076535,9373149,9110174,8619474,8125298,16344560,19683501,20379614,17207965,20308539 80176 NM_025106,AL008734,AL358252,CH471130,AB209559,AF131840,AF403026,AK026046,AK130055,AK225417,BC005852,BC015711,CR609804,DB242202 NP_079382,CAM12843,CAM12844,CAI14376,EAW71617,EAW71618,BAD92796,AAL57345,BAB15335,BAC85287,AAH05852,AAH15711,Q6ZP38,Q96BD6,ADQ31895 Hs.8261,Hs.721335 SSB-1|SSB1 SPRY domain-containing SOCS box protein 1|SPRY domain-containing SOCS box protein SSB-1|novel SPRY domain containing protein protein-coding 1603193 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 15489334,12477932,12076535,9074930,8723724,15713673,17213182,19159283,19609018 84727 NM_032641,NM_001146316,CH471116,U47924,AF403027,AK297963,AK310353,BC002983,BC071933,BE619211,DT220163,NG_013308 NP_116030,NP_001139788,EAW88719,EAW88720,AAB51328,AAL57346,BAH12697,AAH02983,AAH71933,Q99619 Hs.479856 FLJ17395|GRCC9|MGC2519|SSB-2|SSB2 SPRY domain-containing SOCS box protein 2|SPRY domain-containing SOCS box protein SSB-2|gene-rich cluster protein C9 protein-coding 1603939 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 20532202,15489334,12477932,12076535,11157797,16341674 90864 AC012180,AE006639,CH471112,AF403028,AK057850,AK074190,BC007588,BC024244,BC035065,BC041897,BC047441,BC065515,BI768095,BM836743,BQ930544,CR590538,CR591468,CR592259,CR594533,CR594897,CR595592,CR596537,CR598252,NM_080861,CR608229,CR609820,CR610957,CR611923,CR612312,CR617347,CR620383,CR622113,CR624932,CR604082,CR605628,CR601897 NP_543137,AAK61293,EAW85618,EAW85619,EAW85620,EAW85621,EAW85622,EAW85623,EAW85624,AAL57347,BAB71594,AAH07588,AAH24244,AAH41897,AAH47441,Q6PJ21,Q96LS6 Hs.592080 C16orf31|SSB3 SPRY domain-containing SOCS box protein 3|SPRY domain-containing SOCS box protein SSB-3 protein-coding 1603370 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 15489334,14702039,12477932,12076535,19159283,20379614 92369 AF403029,AK056147,AK056367,BC008324,BC051354,CR593903,NM_080862,AC022215,AC108727,CH471052,AF086345,CR613017 AAL57348,BAB71165,AAH08324,Q96A44,NP_543138,EAW79010 Hs.655112 SSB-4|SSB4 SPRY domain-containing SOCS box protein 4|SPRY domain-containing SOCS box protein SSB-4 protein-coding 1313077 SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq] 1580863,1599111 11856323,12049649,12571280,14625392,9573679,9414314,9192783,9163587,9075575,9005995,8844207,8626479,8486776,8434258,8364215,8226774,8193371,8102379,8094577,8040317,8018926,7929303,7883966,7772539,7104494,6654896,6654895,6472478,6215583,3600811,3597773,3580577,3458204,3268039,3027087,3000887,2936753,2807277,2794061,2568862,2568861,2384601,2346784,2070088,2056132,1878597,1845156,1689726,1679439,1672285,1638030,1541680,1391962,1339473,12119179,8997639,1991513,2971657,1634521,9593709,12820899,10950304,379653,19008453,18815189,18218854,17977835,17905835,17885671,17414207,16841024,16551696,16407147,16336193,16171554,16150946,15795915,15492010,15456760,15310273,15203218,12432217,12196550,12105217,11165260,10852813,10551855,10215350,10187839,9889281,19593814,19747366,19807924,19862010,20379614,8493579,20585040,20858683 1599111 6708 NM_003126,NG_011474,AL353894,AY138967,CH471121,M13233,M29994,M61826,AF060556,BU665064,CD616351,M11049,M61877 NP_003117,CAH73936,CAH73937,EAW52816,EAW52817,EAW52818,EAW52819,AAA53103,AAA60575,AAA60994,AAC15757,AAA60569,AAA60577,O60686,P02549,AAI56497,AAI72497 Hs.119825 EL2|HPP|HS3|SPH3|SPTA alpha-I spectrin|erythroid alpha-spectrin|spectrin alpha chain, erythrocyte protein-coding 733239 SPTAN1 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 1580863 10402491,19913121,20628086,8275706,10579058,10576550,10551855,10521589,9890967,9811849,9670010,9642272,9593709,9209005,8993318,8663089,8163551,7642559,7607240,3691949,3336352,3121319,3038643,3027087,2971657,2970468,2939097,2141335,1905928,1902666,492324,12119179,11441066,16169070,11401546,12571280,14623284,10571082,2307671,9624143,19454697,19217883,19102630,19034380,18978357,17081983,16889989,16192640,16106752,15948206,15673434,15656790,15489334,15342556,15302935,15164053,14702039,14593108,12893251,12820899,12630566,12477932,12446661,12049649,12044158,11971983,11509555,11274145,11069925,10874042,10862698,10625438,20936779,20493457,20518497,15328537,17088250,17643375,18029348,20011051,20379614,20381070,8493579 6709 AK310696,DC359079,NG_027748,NM_001195532,CR594344,NM_003127,AF148808,AL356481,CH471090,AB191262,AB209860,AK026484,AK126576,AK294753,AK300386,AK307676,AK309836,AL110273,BC034956,BC051801,BC053521,BP200529,CR594002,NM_001130438,CR610266,CR611709,CR618190,J05243,M18627,M19725,M24773,U26396,U83867,X86901 NP_001182461,NP_001123910,NP_003118,AAF26672,CAH71404,CAH71405,EAW87805,EAW87806,EAW87807,EAW87808,EAW87809,EAW87810,EAW87811,EAW87812,EAW87813,BAD52438,BAD93097,BAG57892,BAG62120,CAB53710,AAH53521,AAA51790,AAA51702,AAA59904,AAA52468,AAB60364,AAB41498,CAA60503,Q13813,Q14917,Q9UG16 Hs.372331 (ALPHA)II-SPECTRIN|EIEE5|FLJ17738|FLJ44613|NEAS|SPTA2 alpha-II spectrin|alpha-spectrin 2|fodrin alpha chain|non-erythrocytic spectrin alpha|spectrin alpha chain, brain|spectrin, non-erythroid alpha chain protein-coding 1349727 SPTB spectrin, beta, erythrocytic 1599118,1580863 16060676,18029348,10950304,8226774,379653,19168783,19141864,18202182,17977835,17520478,16476728,15492010,15065869,14702039,14593108,12743109,12665801,12655374,12477932,12354383,12038451,11703334,11427698,11418000,10751147,10477754,10037687,9450796,9414314,9163587,9005995,8889548,8844207,8675627,8663089,8341682,8102379,8018926,7962054,7883966,7673158,7104494,6743699,6472478,6215583,3580577,3478706,3390609,2346784,2243099,2209094,2195026,2070088,2056132,1976574,1975598,1840591,1634521,1391962,12119179,9890967,2141335,10867799,12820899,15146197,19538529,19910543,20164196,20379614,20459687,8493579,20724481 1599118 6710 M57948,X59510,X59511,NM_000347,AF013172,AF013173,AF013174,AF013177,AF013178,AF013181,AF013184,AF013187,AL121774,CH471061,AB209415,AF465439,AK094815,AK126627,BC010434,BC136284,BC136285,BM681142,BX248270,J05500,M18054,M37884,M37885,NM_001024858,CN370674,NG_016202 AAA60571,CAA42097,CAA42098,O14724,O14725,O14726,P11277,Q59FP5,Q71VF8,Q71VF9,Q71VG0,Q71VG1,Q71VG2,Q86TX9,Q8WX82,NP_001020029,NP_000338,AAC02786,AAC02787,AAC02788,AAC02789,AAC02790,AAC02791,AAC02792,AAC02793,EAW80875,EAW80876,EAW80877,EAW80878,EAW80879,EAW80880,EAW80881,EAW80882,BAD92652,AAL73492,AAI36285,AAI36286,CAD62598,AAA60578,AAA60579,AAA60572,AAA63259 Hs.417303 EL3|HS2|HSPTB1|HSpTB1|SPH2 beta-I spectrin|membrane cytoskeletal protein|spectrin beta chain, erythrocyte protein-coding 1351608 SPTBN1 spectrin, beta, non-erythrocytic 1 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20554715,20588308,17082780,20886430,1527002,18704924,18487259,18445777,18262053,17905835,17716929,17620337,17546056,17088250,17081983,17074766,16083285,15345747,15342556,15324660,15310273,15302935,15262991,15231748,14702039,12901833,12543979,12522145,12477932,11665863,11535133,11274145,10806113,9989581,9537418,19079262,9817844,9798950,9164454,8991093,8889548,8688828,8406479,2474519,12119179,10576550,11069925,15116094,15688033,16247473,18614564,20936779,12820899,16169070,19801982,20200978,20379614,8493579 6711 AJ005694,AK023762,AK025071,AK093946,AK295570,AL117605,BC009640,BC032061,BC137282,BC137283,BM679686,BP218428,BP312037,CR980403,S65762,NM_003128,NM_178313,AC092839,AC093110,AJ238723,CH471053,AB209551,AB209748,AB371586,AF218848,AF327441,HI573966,HI573968 CAA06678,BAG58470,AAI37283,AAI37284,AAB28324,Q01082,Q53RC4,Q59FA9,Q8WYB3,AAO15362,NP_003119,NP_842565,AAX93104,AAY24229,CAB91088,EAX00137,EAX00138,EAX00139,EAX00140,EAX00141,EAX00142,EAX00143,EAX00144,EAX00145,EAX00146,EAX00147,BAD92788,BAD92985,BAG48315,AAL56651,CBX47472,CBX47473 Hs.503178,Hs.705692 ELF|SPTB2|betaSpII beta-G spectrin|beta-II spectrin|beta-fodrin|beta-spectrin 2|beta-spectrin II|embryonic liver beta-fodrin|fodrin beta chain|spectrin beta chain, brain 1|spectrin, non-erythroid beta chain 1 protein-coding 731487 SPTBN2 spectrin, beta, non-erythrocytic 2 1580863 9826670,19098307,10852813,18003973,17940722,17081983,16429157,15148151,12477932,12421765,11461920,9704016,9675416,9205841,7874171,12119179,11357136,20936779,15032605,20131405,20371805,8493579 6712 NM_006946,AP001157,CH471076,AB008567,AF026487,AF026488,AF079569,BC122522,BC131819,BC139788,NG_016150 NP_008877,EAW74559,EAW74560,EAW74561,BAA32700,AAC79502,AAC79503,AAC79504,AAC80006,AAI39789,O15020,AAI72438 Hs.26915 GTRAP41|SCA5 beta-III spectrin|glutamate transporter EAAT4-associated protein 41|spectrin beta chain, brain 2|spectrin, non-erythroid beta chain 2 protein-coding 1312269 SPTBN4 spectrin, beta, non-erythrocytic 4 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 11086001,11294830,12812986,17081983,16344560,14702039,12421765,11807096,10997877,12119179,12506198,19851296,20198315,20379614,8493579 57731 NM_020971,NM_025213,AC020929,CH471126,AB046862,AF082075,AF311855,AF311856,AF324063,AF324064,AI962525,AK054915,AK308547,AK309418,AL133093,AY004226,AY004227,CR613374,DA514440 NP_066022,NP_079489,EAW56973,EAW56974,EAW56975,EAW56976,EAW56977,EAW56978,BAB13468,AAG38874,AAG42473,AAG42474,AAQ14860,AAQ14859,CAB61407,AAF93171,AAF93173,Q71S06,Q71S07,Q9H253,Q9H254,Q9UFA1 Hs.32706 KIAA1642|QV|SPNB4|SPTBN3 beta-IV spectrin|betaIV spectrin|spectrin beta chain, brain 3|spectrin, non-erythroid beta chain 3 protein-coding 1322297 SPTBN5 spectrin, beta, non-erythrocytic 5 1580863 10764729,18048348,12119179,19851296,20043139,20198315,20379614,8493579 51332 NM_016642,AC020659,CH471125,AF233523,BF515053 NP_057726,EAW92523,AAF65317,Q9NRC6 Hs.709819 BSPECV|HUBSPECV|HUSPECV beta V spectrin|beta-V spectrin|spectrin beta chain, brain 4|spectrin, non-erythroid beta chain 4 protein-coding 1315336 SPTLC1 serine palmitoyltransferase, long chain base subunit 1 Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 20634891,19416851,18484747,18018475,17982236,17353931,17331073,17194770,16210380,15467453,15164053,15037712,14152213,12477932,12445191,11479835,11242114,11242106,10722759,10722674,10713067,9363775,19132419,19362163,19592499,19651702,19923297,20097765,20182505,20562859 10558 NM_006415,NM_178324,NG_007950,AF286717,AL354751,AL391219,CH471089,AB209757,AF147304,AK098344,AK291546,AK299153,AK309775,BC007085,BC068537,CR594157,CR615416,Y08685 NP_006406,NP_847894,AAK29328,CAH69923,CAH69924,CAH70209,EAW62804,EAW62805,EAW62806,BAD92994,BAF84235,BAG61202,AAH07085,AAH68537,CAA69941,O15269,Q59EQ4,Q6NUL7,Q96IX6 Hs.90458 HSAN|HSAN1|HSN1|LBC1|LCB1|MGC14645|SPT1|SPTI LCB 1|SPT 1|long chain base biosynthesis protein 1|serine C-palmitoyltransferase|serine palmitoyltransferase 1|serine-palmitoyl-CoA transferase 1 protein-coding 1354205 SPTLC2 serine palmitoyltransferase, long chain base subunit 2 This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 19416851,17331073,17194770,17081983,15489334,12508121,12477932,12445191,12207934,10722674,9628581,9363775,8921873,8889549,7506601,10737800,20920666,20877624 9517 NM_004863,AF111168,CH471061,AB011098,BC005123,BG024616,BM992457,BQ338973,U15555,W24363,Y08686 NP_004854,AAD09621,EAW81297,EAW81298,EAW81299,BAA25452,AAH05123,AAC50871,CAA69942,O15270,ABM84223,ABM87785 Hs.435661 HSN1C|KIAA0526|LCB2|LCB2A|NSAN1C|SPT2 LCB 2|LCB2a|SPT 2|long chain base biosynthesis protein 2|long chain base biosynthesis protein 2a|serine palmitoyltransferase 2|serine palmitoyltransferase, subunit II|serine-palmitoyl-CoA transferase 2 protein-coding 1351339 SPTLC3 serine palmitoyltransferase, long chain base subunit 3 Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]).[supplied by OMIM] 1580863 11780052,19416851,17331073,17023427,16303743,15489334,14702039,12477932,19913121,20628086,20920666,19648650,19798445,20037589,20379614 55304 NM_018327,AL050320,AL109983,AL133331,AL445589,CH471133,AK001974,AK075271,AK300184,AL844429,BC005205,BC020656,BC038248,BC150644,CF994231,CX870585 NP_060797,CAD54807,CAM27358,CAI22514,CAI22515,CAI22516,CAM28300,CAI12291,CAI12293,CAM13116,CAI13234,CAI13236,CAM16427,EAX10322,EAX10323,BAA92012,BAC11509,BAG61962,AAH05205,AAH20656,AAI50645,Q8N2H1,Q9NUV7 Hs.425023 C20orf38|FLJ11112|FLJ90790|LCB2B|LCB3|SPT3|SPTLC2L|dJ718P11|dJ718P11.1 LCB 3|LCB2b|SPT 3|long chain base biosynthesis protein 2b|long chain base biosynthesis protein 3|serine palmitoyltransferase 3|serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)|serine-palmitoyl-CoA transferase 3 protein-coding 1603901 SPTY2D1 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 14702039,12477932 144108 NM_194285,AC112694,CH471064,AF086471,AF452716,AK096694,AK096760,AL834393,BC036844,BC056261,BX538046,BX641102,BX647798,BX648114,BX648478,CR749626,AK304078 NP_919261,EAW68374,AAP13351,BAC04858,CAD39055,AAH36844,AAH56261,CAD97985,CAE46047,CAH10772,CAH18420,Q68D10,BAG64985 Hs.268668,Hs.727689 DKFZp686F1942|DKFZp686I068|FLJ39441 SPT2 domain-containing protein 1|protein SPT2 homolog protein-coding 1606768 SPZ1 spermatogenic leucine zipper 1 12477932,15899793,15829580,15489334,15372022,15226296,14702039,12778315,11165476 84654 NM_032567,AC026410,CH471084,AF333098,AI138399,AK098575,AK314007,BC033798,BG723698,BU853967 NP_115956,EAW95847,EAW95848,AAK17995,BAC05340,BAG36718,AAH33798,Q9BXG8,ABM83049,ABM86243 Hs.519403 FLJ25709|NYD-TSP1 OTTHUMP00000222234|spermatogenic leucine zipper protein 1|spermatogenic zip 1|testis-specific protein 1|testis-specific protein NYD-TSP1 protein-coding 736675 SQLE squalene epoxidase Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq] 1581398,1581399,1300048,1580863,2316857 19913121,20628086,15489336,10666321,9286711,18728668,18660489,17316888,16806233,16381901,14702039,12477932,12083769,11230166,11076863,9373149,8626488,8125298 1581398,2316857 6713 NM_003129,AC009908,CH471060,FJ695197,AF098865,AK055357,AK295302,AK225085,AK301792,AK313384,BC017033,BG772453,BX647400,BX647605,CR599266,D78129,D78130 NP_003120,EAW92079,AAD10823,BAG58282,BAG63246,BAG36182,AAH17033,CAI46076,BAA11209,BAA22372,Q14534,Q5HYI4,Q9UNR6,CAL38441,ABM85583 Hs.71465 FLJ30795 SE|squalene monooxygenase protein-coding 1353757 SQRDL sulfide quinone reductase-like (yeast) 1580863 15489334,12477932,10810093,10224084,9373149,8125298,18029348,20877624,20966902 58472 NM_021199,AC090527,CH471082,AF042284,AF118085,AF151802,AK130140,AK222463,AK313111,BC016836,CR591141,CR592868,CR598897,CR599046,CR604930,CR613954,CR615979,CR618471,CR619347,CR623774 NP_067022,EAW77319,EAW77321,EAW77324,EAW77326,EAW77328,AAD41160,AAF22029,AAD34039,BAD96183,BAG35933,AAH16836,Q53HW7,Q9UHS8,Q9Y6N5,ABM82372,ABM85551 Hs.511251 CGI-44 sulfide dehydrogenase like|sulfide:quinone oxidoreductase, mitochondrial protein-coding 736484 SQSTM1 sequestosome 1 This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq] 1599121 20452972,20639871,20971078,20168092,20562859,20421418,21062285,8650207,16189514,18083104,14676191,12857745,8702753,19557423,19427028,19282458,19257822,19074260,19067022,19049332,19020788,19016598,19010391,18992722,18984666,18776740,18653543,18543015,18457658,18442140,18379713,18379439,18083707,17932931,17931355,17685470,17580304,17237936,17229007,17187080,17120186,17081983,16964243,16820172,16691492,16574459,16565220,16405664,16344560,16286508,16169070,16129434,16083285,16079148,16011831,15953362,15911346,15870274,15802564,15761153,15647816,15592455,15493999,15489334,15340068,15207768,15176995,15164150,15158159,15146436,15125799,14702039,14692700,14584883,12887891,12869526,12857950,12813044,12727313,12700667,12477932,12471037,12431995,12374763,12242277,12034707,11992264,11981755,11852044,11786419,11755531,11473345,11447312,11244088,10747026,10708586,10362795,10356400,9762895,9566925,8910285,8618896,8551575,17898222,18174161,17052185,20573959,10022904,12787561,15721744,16252010,16630834,16874300,16997282,19004011,19071211,19197142,19250911,19398892,19481605,19589897,19615732,19812211,19816510,19850933,19903815,20018885,20098416,20103647,20200946,20230821,20357094,20378532,20379614,20499339,9252186,21073987,19780870,20204693 1599121 8878 NM_001142298,NM_001142299,NM_003900,NG_011342,AC008393,AF060494,CH471165,AI333228,AK025146,AK094484,AK098077,AK226167,AK293509,AK304877,AK312451,BC000951,BC001874,BC003139,BC005857,BC017222,BC019111,BC050631,BI549805,BM800056,BU625974,CR616283,CR619553,DA541885,DC398116,U41806,U46751,U46752 NP_001135770,NP_001135771,NP_003891,AAC64516,EAW53786,EAW53787,BAG53577,BAG56993,BAG65614,BAG35358,AAH00951,AAH01874,AAH03139,AAH17222,AAH19111,AAA93299,AAC52070,AAC50535,Q13501,Q13502,ABM83804,ABW03518 Hs.709030 A170|OSIL|PDB3|ZIP3|p60|p62|p62B EBI3-associated protein of 60 kDa|EBI3-associated protein p60|EBIAP|OTTHUMP00000223467|oxidative stress induced like|phosphotyrosine independent ligand for the Lck SH2 domain p62|phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa|sequestosome-1|ubiquitin-binding protein p62 protein-coding 1353576 SRA1 steroid receptor RNA activator 1 This gene is involved in transcriptional coactivation by steroid receptors. There is currently data suggesting this gene encodes both a non-coding RNA that functions as part of a ribonucleoprotein complex and a protein coding mRNA. Increased expression of both the transcript and the protein is associated with cancer. [provided by RefSeq] 20966046,20219889,14517287,12565891,10199399,19188450,19064678,19064572,18950845,18827892,18676680,17702747,16848684,16773180,16607388,16540468,16152589,15607539,15498874,15489334,15351741,15327771,15180993,15147866,14715875,14702039,12943696,12909012,12477932,12444263,12163482,12118039,11818499,11250900,11103781,10485452,11331609,20677014,16169070,19625176,19692168,19740422,20079837,20153324,19483093,20855289 10011 NM_001035235,AC011399,CH471062,AF092038,AF293024,AF293025,AF293026,AF318361,AK024640,BC040043,BC067895,CR595828,CR606827,DQ286291 NP_001030312,EAW62051,EAW62052,EAW62053,AAG02114,AAG02115,AAG02116,AAL55868,AAH40043,Q9HD15,AAI52789,AAI56761 Hs.653135 MGC87674|SRA|SRAP|STRAA1|pp7684 steriod receptor RNA activator 1|steriod receptor RNA activator protein|steroid receptor RNA activator 1|steroid receptor RNA activator 1 (complexes with NCOA1)|steroid receptor RNA activator protein|steroid receptor coactivator protein-coding 1602705 SRBD1 S1 RNA binding domain 1 19615732,20363506,20379614,19240061,16344560,14702039,12477932,9847074 55133 NM_018079,AC008179,AC012072,CH471053,AK001241,AK055896,AK056536,AK301122,AK316222,BC032538,CR615345,DA235970 NP_060549,AAK52078,AAY14821,EAX00260,EAX00261,BAA91577,BAG51740,BAH13413,BAH14593,AAH32538,Q8N5C6 Hs.14229 FLJ10379 H_NH0576F01.1|S1 RNA-binding domain-containing protein 1|WUGSC:H_NH0576F01.1 protein-coding 1350530 SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1601372,1601373,1580850,1641809,2315078,2315083,2307340,2315076,1642762,2299174,2315077,1580863,1581139,1601371,2325284,2325012 20659428,11031247,10458595,10455194,10455176,10395945,10391903,10362724,10358079,10339567,10206955,10205168,10195142,10187839,10092678,10075741,10070972,9988270,9880482,9867848,9837958,9837922,9819392,9819391,9792645,9786846,9763511,9748248,9710204,9701558,9687533,9687503,9655255,9632142,9621077,9584165,9566874,9560226,9507031,9388490,9344858,9278444,9261115,9208935,9195899,9182531,9178760,9174343,9118959,9096689,9024657,9016807,9012831,8978822,8953041,8941336,15777850,15774483,15749833,15746183,15735682,15696169,15695802,15689620,15688032,15647376,15637072,15623525,15623523,15618223,15588985,15583006,15564375,15546919,15546918,15532711,15528270,15522237,15522235,15498833,15494217,15489334,15485865,15467744,8070403,9020193,11520933,9924018,17848177,10858437,11124251,8845374,9028946,12506110,12907686,15574420,19487280,19453261,19435911,19321744,19305428,19302982,19265199,19262695,19262138,19258394,19223541,19176482,19147496,19130504,19112177,19111446,19074832,19066724,19048118,19047046,19035465,18948751,18924149,18922903,18839319,18832467,18802114,18694941,18667434,18662984,18644869,18632638,18617000,18606683,18594017,18594011,15456896,15363460,15342783,15337529,15304482,15297464,15286700,15276210,15272013,15271991,15254245,15229287,15184363,15175272,15143158,15122338,15117969,15094065,15075377,15069201,15062576,15062102,15060621,15033452,15001550,14963038,14766744,14761972,14739293,14707140,14706618,14702039,14688263,14687660,14676843,14670955,14661060,14627343,14617636,14562045,14551213,14523024,14517306,14504278,12975382,12972425,12947321,12939401,12933816,12932824,12907754,12893822,12878163,12846735,12842760,12829810,12810717,12808100,12795607,12789267,12771149,12753909,12730241,12707358,12695509,12663375,12649275,12637538,18566211,18562041,18550772,18524994,18509267,18503159,18474606,18467332,18463161,18457834,18451158,18445593,18441016,18434302,18403635,18397177,18388244,18353785,18327819,18322799,18252715,18251740,18223692,18211905,18209475,18180305,18156174,18089800,18086662,18080320,18070925,18069897,18063684,18061419,18057010,18024423,17997837,17974954,17967179,17934522,17933561,17855352,17849451,17804738,17803936,17785844,17716980,17691821,17641225,17630833,17620427,17593353,17574549,17553930,17537435,17537434,17510314,17471235,17443665,17369846,17325034,17317726,17307333,17224200,17215324,17192257,17135298,17088251,17062641,17056000,17046078,17038311,17030621,17018524,16959222,16951177,16894533,16891307,16882656,16862215,16844778,16837460,16825188,16728403,16690617,16636672,16619028,16569657,16543952,16523241,16492668,16479011,16465417,16441665,16440311,16414009,16412380,16407214,16400523,16377083,16371650,16322069,16317091,16260653,16186108,16168436,16163059,16158247,16158055,16055703,16027153,16020549,16002577,15872089,15872086,15853660,15851033,15845350,15835917,15818752,15788656,15782139,12631284,12626508,12624098,12621061,12618767,12615930,12604776,12588871,12576423,12554790,12540962,12540842,12538589,12522270,12493773,12477932,12473651,12468645,12462387,12456372,12454018,12429837,12429743,12429742,12420216,12416028,12402152,12393736,12387813,12244095,12235291,12219031,12216109,12215529,12210743,12162444,12153558,12145209,12095943,12091389,12063167,12060669,12052863,12048194,12014986,12011079,11994743,11983694,11971983,11964172,11940607,11940572,11934902,11934669,11927607,11923305,11884411,11877451,11875070,11872746,11854294,11834728,11834516,11781820,11780052,11751924,11741929,11741599,11739737,11724572,11723131,11713277,11708798,11602604,11593413,11524430,11514593,11483655,11483589,11481331,11445557,11382764,11379820,11375989,11373296,11353545,11350938,11313464,11309200,11294897,11279201,11279199,11279024,11152665,11127814,11113628,11106497,11071635,11039464,11024032,11013230,11007774,10978326,10973497,10971656,10959835,10945997,10931187,10918587,10899172,10884433,10871840,10846184,10838070,10787408,10777553,10777539,10734107,10698938,10688651,10681522,10657632,10635328,10544291,10527887,10482988,10467411,10462375,8940173,8918464,8910575,8900189,8885868,8878483,8876196,8849729,8816475,8805332,8797825,8766817,8761480,8702721,8681387,8657134,8657103,8647855,8647432,8635998,8632005,8626374,8621384,8510939,8272872,8253717,8054685,7997267,7691597,7682059,7678701,7542762,7539106,7537495,7537362,7534286,7532003,7530249,7529876,7527558,7521304,7519780,7518772,7517401,7516469,7513429,7513017,7510703,6333425,6304688,6092965,3917576,3299057,2996780,2996754,2981336,2681803,2582238,2581127,2506951,2457390,2173144,1717825,1713455,1691439,1689310,1545818,1384654,1383690,1379745,1310678,16105876,16849330,15638726,15078178,12734410,9778343,11494128,12612084,10454579,12615911,12558988,12387730,11980671,10085298,9822703,11032808,11013076,11564893,10644995,11389730,11827972,10521452,11084024,11431473,11085988,16169070,11960376,12397603,11514617,10739664,10487518,10022920,8824280,16640565,12138090,10636929,11577104,7681396,12226752,12024042,10781592,9169421,12640114,10517671,12697812,12871937,15466214,15027889,12482968,11158331,10847592,10567404,11696545,10744074,15939018,7515480,8810341,7683128,15782160,9148935,15135048,8939605,12819203,10571082,9843378,20452982,20460377,7537265,15248232,20353998,20371672,20378826,10428862,10801826,10982829,11576548,12072427,12456510,12612073,12650714,12736255,15070730,15140878,15557335,15834155,16005629,16103119,16116474,16166096,16291744,16374509,16581250,16899217,16966330,16990796,17097642,17129785,17141222,17170700,17254967,17412687,17474147,18095097,18328427,18493848,18616680,18713744,19160018,19199380,19267251,19281832,19329556,19419966,19435802,19447874,19457864,19479902,19481075,19497848,19515834,19535918,19540193,19546854,19620276,19665017,19690143,19703310,19711372,19718473,19730683,19755386,19762712,19767770,19769962,19789182,19802004,19807924,19808905,19822667,19833732,19840943,19843640,19852943,19861436,19875457,19878981,19881549,19887442,19892015,19903481,19924282,19940159,19948031,19948721,19956670,19965650,20013033,20028973,20053757,20056178,20100835,20127031,20155281,20176789,20332114,20351107,9297626,17158602,20936779,16860316,16923966,16930961,20705589,20152043,20796316,20615878,16423881,16434701,16532030,20956943,21036157,20540746 1601372,1601373,1580850,1641809,2315078,2315083,2307340,2315076,1642762,2299174,2315077,1581139,1601371,2325284,2325012 6714 NM_198291,AF077754,AL034422,AL133293,AL390014,CH471077,K03218,X02647,AF272982,AK024281,AK091756,BC011566,BC051270,Z18364,NM_005417,NG_023033,CS566144 NP_005408,NP_938033,AAC29427,CAC10573,CAC34523,EAW76062,EAW76063,EAW76064,EAW76065,EAW76066,EAW76067,AAA60584,CAA26485,BAB14871,AAH11566,AAH51270,P12931,Q71UK5,Q9H7V3,ACE87113,ACE86438,CAN37623 Hs.195659 ASV|SRC1|c-SRC|p60-Src OTTHUMP00000174476|OTTHUMP00000174477|OTTHUMP00000174478|proto-oncogene c-Src|proto-oncogene tyrosine-protein kinase Src|protooncogene SRC, Rous sarcoma|tyrosine kinase pp60c-src|tyrosine-protein kinase SRC-1 protein-coding 1606024 SRCAP Snf2-related CREBBP activator protein 18029348,14500758,12477932,11581372,9205841,8889548,11013263,10702287,10347196,17617668,17101442,16634648,16344560,16024792,15647280,14702039,14966270,16169070,17643375,20432434 10847 AC093249,AC106886,CH471192,AB002307,AF143946,NM_006662,AK023808,AK025382,AK126463,AK128030,AU140541,BC025284,BC063578,BC159099,BM677852,DA109400 NP_006653,EAW52212,EAW52213,EAW52214,BAA20768,AAD39760,BAG51225,BAC86558,BAC87237,AAH63578,AAI59100,Q6P4A2,Q6ZRS2,Q6ZTM8,AAI72428 Hs.647334 DOMO1|EAF1|FLJ44499|KIAA0309|SWR1 OTTHUMP00000208671|Snf2-related CBP activator protein|Swi2/Snf2-related ATPase homolog, domino homolog 1|domino homolog 1|domino homolog 2|helicase SRCAP protein-coding 1315886 SRCRB4D scavenger receptor cysteine rich domain containing, group B (4 domains) The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM] 1580863 12477932,12466895,20237496 136853 NM_080744,AC005522,AJ306912,AJ306913,AJ306914,AJ306915,AJ306916,AJ306917,AJ306918,AJ306919,AJ306920,AJ306921,CH471220,AJ312755,AK172783,BC015651,BC113840,CR620510 NP_542782,CAC88128,EAW71806,CAC84764,BAD18764,AAH15651,AAI13841,Q8WTU2,AAI67843 Hs.567684 S4D-SRCRB|SRCRB-S4D|SSC4D S4-SRCRB|scavenger receptor cysteine-rich domain-containing group B protein|scavenger receptor cysteine-rich protein SRCRB-S4D protein-coding 736446 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM] 2302521,2302558,2302559,2302522,2302523,1580863,1300048,4891877,4891894,4891511,2325883,4891505,4891966 19913121,20628086,20634197,20672519,20800085,10931946,1686016,19383266,19246976,19064572,18636124,18633104,18483391,18422030,18258185,18215136,18008328,17218734,17066438,16849416,16818707,16155734,16100771,15941927,15862960,15792368,15543614,15538746,15489334,15212687,15136785,15004407,14997014,14739525,14671189,12738739,12670724,12477932,11948017,11903314,11678334,9685215,9620288,9110174,8876709,8619474,8389478,7796940,7688765,6833469,4400474,2339109,1345916,17986282,15583024,20519274,20734064,19574343,19598235,19846565,19886072,20056642,20086173,20200332,20214802 2302521,2302558,2302559,2302522,2302523,4891877,4891894,4891511,2325883,4891505,4891966 6715 NM_001047,AC010366,AF073301,AF073302,AF073303,AF073304,AY341029,CH471102,M68886,AF052126,AF113128,AK297208,AK297511,AK313070,AK315996,BC006373,BC007033,BC008673,BT006834,M32313 NP_001038,AAC26862,AAC26863,AAC26864,AAC26865,AAP88935,EAX08103,EAX08104,AAA60995,AAC28620,AAF14869,BAH12524,BAH12598,BAG35898,BAH14367,AAH07033,AAH08673,AAP35480,AAA35490,P18405,ABM82463,ABM85652 Hs.552 S5AR 1 3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1|3-oxo-5-alpha-steroid 4-dehydrogenase 1|5-alpha reductase|SR type 1|steroid 5 alpha-reductase 1|steroid 5-alpha-reductase 1|steroid 5-alpha-reductase type I protein-coding 737503 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq] 2302558,2302560,1600067,1600059,1331525,1580863,1300048,4891929,4891877,2325883 19913121,20628086,20634197,20800085,1944596,19505920,19492581,19383266,19267353,19246976,19215786,19125422,19064572,18949357,18780294,18767927,18722876,18717241,18566991,18503826,18501301,18495332,18483391,18469342,18431743,18391540,18391525,18350250,18314109,14739525,14693733,14652280,14594182,12971967,12949937,12869400,12843198,12815006,12788885,12771801,12746845,12738739,12712437,12670724,12477932,12446983,12370109,12210487,12164325,12137870,12115497,12111704,12100746,12042668,11927504,11903314,11869378,11847524,11845321,11751447,11588134,11571725,11547131,11440959,11381197,11355945,11303586,11164181,10999800,10913941,10718838,10501358,10342882,9843052,9745434,9467575,9208814,9066886,8768837,8626825,7688765,7554313,1505484,1406794,15061984,1522235,18306354,18268111,18258185,18163429,18097518,18086758,18000232,17823934,17785571,17669147,17609295,17588204,17507624,17448593,17376218,17328668,17220347,17136762,17108148,16859836,16849416,16821341,16818707,16716118,16608396,16487406,16325991,16181229,16174723,16155734,16098368,16039774,16029630,16018939,15770495,15733480,15711606,15538746,15528927,15477877,15389785,15337247,15326487,15266301,15241822,15212687,15201804,15136785,15583024,20855474,20734064,16736621,19443907,19574343,19598235,19760631,19846565,19914946,19926884,19956849,19962986,20056642,20059664,20173016,20200332,20214802,20215396,20381444,21037542 2302558,2302560,1600067,1600059,1331525,4891929,4891877,2325883 6716 NM_000348,NG_008365,AB047857,AL133247,AY884245,CH471053,L03843,AK307235,AK316597,BC112252,BC113641,EF560740,M74047 NP_000339,BAB40419,AAW56942,EAX00478,BAG38184,AAI12253,AAI13642,ABQ59050,AAA60586,P31213,ACE87820,ADR82875,ACT64378 Hs.458345 MGC138457 3-oxo-5 alpha-steroid 4-dehydrogenase 2|3-oxo-5-alpha-steroid 4-dehydrogenase 2|5 alpha-SR2|S5AR 2|SR type 2|steroid 5-alpha-reductase 2|type II 5-alpha reductase protein-coding 1606233 SRD5A3 steroid 5 alpha-reductase 3 20852264,17986282,14702039,12477932,20637498,17207965,15583024 79644 NM_024592,AC064824,AC069200,CH471057,AK023414,CR457312,CR594439,CR602749,CR613723,CR622639,BC002480 NP_078868,AAY40904,EAX05465,BAB14568,AAH02480,CAG33593,Q9H8P0,ADQ32316 Hs.39311 CDG1P|CDG1Q|FLJ13352|SRD5A2L|SRD5A2L1 3-oxo-5-alpha-steroid 4-dehydrogenase 3|S5AR 3|SR type 3|probable polyprenol reductase|steroid 5 alpha-reductase 2-like|steroid 5-alpha-reductase 2-like|steroid 5-alpha-reductase 3 protein-coding 1353477 SRD5AP1 steroid-5-alpha-reductase, alpha polypeptide pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) 1686016 6719 AL008713,M68887,BX470592,NR_028597 DKFZp686G24110|SRD5AP1 pseudo 69473 SREBF1 sterol regulatory element binding transcription factor 1 This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2308802,2308806,2308809,2308811,2308804,1581418,2308808,1625196,2308807,1581819,2308805,2308821,2308815,1581420,1580863,2317203 19913121,20554776,20628086,20466882,20534441,19032865,11257259,8156598,14701856,16407292,19533843,19360318,19336475,19323650,19292868,19252981,19242521,19062325,19056482,19056350,19048273,19040658,19008011,18996102,18936756,18854425,18835813,18774944,18752865,18727921,18692268,18682402,18660489,18654640,18635549,18435918,18420801,18403372,18360697,18334917,18304434,18281474,18272927,18267114,18245227,18195716,18192539,18072016,18068676,18065496,17989724,17681345,17655842,17452746,17344645,17331464,17296605,17198935,17160088,17141191,17081983,17019602,16885156,16880739,16825193,16817902,16806233,16804073,16799563,16713569,16480961,16429400,16387548,16306078,16249184,16198472,16162944,16158080,16153721,16141315,16055439,16007182,16005884,15833942,15809359,15798184,15794649,15769984,15677507,15550381,15388640,15340088,15317819,15286454,15277400,15123650,15102555,15085196,15026365,14988272,14748724,14747281,14744869,14742839,14722127,14702039,14654692,14633850,12752570,12730330,12657626,12615929,12531699,12477932,12436350,12213084,12177166,12145339,12021179,11997338,11929849,11916923,11713202,11485982,11334418,10949029,10915800,10619424,10585876,10224053,9651391,9634703,9070916,8402897,8314806,8006035,7903453,7759101,10627507,18385733,8918891,9062340,8626610,20513236,16054087,12202038,12242332,18559965,19470430,19578796,19621387,19720801,19727213,19733654,19811452,19876004,19878569,19913854,19948975,19966780,20005944,20026048,20028734,20031551,20067991,20071336,20130133,20145241,20167577,20171215,20235787,20376806,20173757,20971080,20615871,20817729,20868688,20648548,20965718 2308802,2308806,2308809,2308811,2308804,1581418,2308808,1625196,2308807,1581819,2308805,2308821,2308815,1581420,2317203 6720 AK294800,AK297113,BC023621,BC026962,BC057388,BC063281,BE208013,BI906407,BQ025047,CR616334,S66167,S66168,U00968,NM_001005291,AC122129,CH471196,AB209609,AB373958,AB373959,AK091131,AK095325,AK128320,AK293795,NM_004176 BAG57207,BAG57920,BAG59620,AAH23621,AAH26962,AAH57388,AAH63281,AAB28522,AAB28523,AAC50051,P36956,NP_004167,NP_001005291,EAW55688,EAW55689,EAW55690,EAW55691,BAD92846,BAG06742,BAG06743,BAG52289,BAG53027,BAG54659 Hs.592123 SREBP-1c|SREBP1|bHLHd1 OTTHUMP00000065591|OTTHUMP00000065592|OTTHUMP00000065593|SREBP-1|class D basic helix-loop-helix protein 1|sterol regulatory element binding protein-1|sterol regulatory element-binding protein 1|sterol regulatory element-binding transcription factor 1 protein-coding 730972 SREBF2 sterol regulatory element binding transcription factor 2 This gene encodes a ubiquitously expressed transcription factor that controls cholesterol homeostasis by stimulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain. [provided by RefSeq] 1581412,1581413,1581414,1581415,1581416,1581417,1581418,1581419,1581420,1625196,2308815,2308818,2308821,2308813,2308812,2308825,1581819,2308843,2307223,1625197,1580863,2317203 19913121,20628086,17921436,17702963,17604677,17383658,17198935,17142457,17008555,16901265,16806233,16763159,16697011,16466730,16335799,16227610,16158080,16141315,16082694,15798184,15721010,15547298,15489334,15461802,15388640,15358760,15211801,15085196,15026365,14988395,14765107,14702039,14645851,14500290,12855700,12842885,12801623,12615929,12477932,18072016,18032389,9927745,9508001,9139737,9070916,8918891,8900111,8643593,8626610,8605870,8402897,7759101,16014965,12202038,16169070,20466882,7903453,10976766,15527767,19323650,19263511,19155782,19116028,19056482,19041766,18959802,18954446,18936756,18660489,18579430,18403372,18321953,18272927,18195716,12242332,11485982,11283257,11149418,10896675,10627507,10619424,10591208,10397761,9990022,12446768,12941800,19231010,19460711,19497963,19550366,19582494,19706601,19740467,19906111,19948975,20031551,20111910,20138239,20167577,20379614,9242699,20936779,20566875,20460578,20450493,20144195,20732877,20211142,20734064,20965718 1581412,1581413,1581414,1581415,1581416,1581417,1581418,1581419,1581420,1625196,2308815,2308818,2308821,2308813,2308812,2308825,1581819,2308843,2307223,1625197,2317203 6721 NM_004599,AL021453,CH471095,D86746,Z99716,AK299914,AL834221,BC051385,BC051799,BC056158,CR590277,CR590934,CT841522,U02031 NP_004590,CAI22917,EAW60469,EAW60470,EAW60471,BAC57590,CAI41688,CAQ07547,BAG61752,CAD38902,AAH51385,AAH51799,AAH56158,CAJ86452,AAA50746,Q05BD5,Q12772,Q8NCY3,CAK54615,CAK54914 Hs.443258 SREBP2|bHLHd2 SREBP-2|class D basic helix-loop-helix protein 2|sterol regulatory element-binding protein 2|sterol regulatory element-binding transcription factor 2 protein-coding 1321393 SRF serum response factor (c-fos serum response element-binding transcription factor) This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). [provided by RefSeq] 1581423,1581424,1581425,1581426,1581427,1581428,1581473,1580753,1580754,1580863,1580749 19913121,20628086,3203386,16054032,15180964,17200232,17576768,17215356,8887666,17975004,12660819,15282327,18029348,19329434,19198601,19151755,19098903,19079548,18780286,18694962,18501668,18296735,18078809,17629633,17376895,17122890,17081983,16151017,15857835,15610731,15576363,15542842,15489334,15326221,15014501,14565952,12874181,12853125,12788374,12788062,12654640,12622724,12530967,12477932,20096952,12397177,12297045,12270917,12242287,12200418,12171911,12082086,12061776,11893590,11859076,11846562,11641790,11500490,11457859,11439182,11406578,11387340,11359793,11278942,11181183,11158291,11136726,11104785,11003651,10993896,10847592,10777532,10753652,10606656,10571058,10336466,10318869,10318842,9786846,9584171,9545312,9388250,9334314,9271374,9032301,9010223,8670842,8617811,8604338,8413226,8407951,8375385,8106390,8024585,7854423,7796532,7637780,7624133,7551568,7540136,2046671,1740119,1547771,1512232,10556093,12077347,10082523,15806162,15207639,20144681,17158926,20808827,20811705,16690609,19359245,20685657,15492011,18497331,19151320,19342595,19350017,19513551,19687146,19724058,19801679,19953255,20147408,20379614,2108863 1581423,1581424,1581425,1581426,1581427,1581428,1581473,1580753,1580754,1580749 6722 AL133375,AL355385,CH471081,AB209128,AI085561,AK300467,BC048211,BC052572,CR594188,CR595609,J03161,NM_003131,CS542447 P11831,Q59GI1,NP_003122,CAI20207,CAI13785,EAX04161,EAX04162,BAD92365,BAG62186,AAH48211,AAH52572,AAA36647,CAM91173 Hs.520140 MCM1 serum response factor protein-coding 1603357 SRFBP1 serum response factor binding protein 1 18230186,16647043,15492011,12477932,11329013,19751705,17207965 153443 NM_152546,AC010255,AC093521,CH471086,AK058015,AY611630,BC017102,BC031222,BG193119 NP_689759,EAW48899,EAW48900,BAB71631,AAU25829,AAH17102,AAH31222,Q8NEF9,ADQ32366 Hs.107622 BUD22|FLJ25286|P49|Rlb1|STRAP|p49/STRAP BUD22 homolog|SRF-dependent transcription regulation associated protein|SRF-dependent transcription regulation-associated protein|serum response factor-binding protein 1 protein-coding 1348930 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 1580863 17081983,15761153,15489334,14702039,12736724,12477932,11672528,10718198,19807924,20237496 57522 NM_020762,AC020611,AC025576,AC079866,AC084357,CH471054,AB037725,AK023899,AK025819,AK123684,BC006127,BC029919,BC053903 NP_065813,EAW97122,EAW97123,BAA92542,AAH53903,Q7Z6B7 Hs.593803,Hs.210751 ARHGAP13|FLJ22166|KIAA1304 SLIT-ROBO Rho GTPase-activating protein 1|rho GTPase-activating protein 13 protein-coding 1603684 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 15324660,15046868,14702039,12736724,12477932,11672528,9455484,20810653,19913121,20602751,20628086,15252450,19041431,19807924,20379614 23380 AB007925,AK000885,AK293335,AK294060,AK295845,BC041635,BC063527,BC132872,BC132874,BC144343,CH471100,NM_015326,NM_001042758,AL161736,NM_001170637 EAW93550,BAA32301,BAG50836,BAG56851,BAG57406,BAH12200,AAI32873,AAI32875,AAI44344,O75044,Q5VZB3,Q5VZB4,Q5VZB5,NP_056141,NP_001036223,CAH73674,CAH73675,CAH73676,NP_001164108 Hs.497575 ARHGAP34|FNBP2|KIAA0456|SRGAP3|srGAP3 OTTHUMP00000034541|OTTHUMP00000034542|SLIT-ROBO Rho GTPase-activating protein 2|formin binding protein 2|formin-binding protein 2|rho GTPase-activating protein 34 protein-coding 1603455 SRGAP2P1 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1 15252450,12477932,17903296 653464 NG_006429,AL358175,BC017972,BC036880,DQ786311 Hs.523529,Hs.698027 MGC131678 pseudo 2303324 SRGAP2P2 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2 12477932 647135 AL078463,BX537114,CR589924,BC150646,NR_034178,AL109844 CAI20334,CAI13084,CAM28369,CAM28370 Hs.632517 SRGAP2L|WI2-929E21 pseudo 1345309 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 1580863 16730001,16344560,14702039,12736724,12477932,12447388,12368262,12195014,12168954,11672528,10574461,9455477,19433673,19760623,19807924,20035503,20237496,20379614 9901 NM_001033117,NM_014850,AC026191,AC034186,AC037193,AC066583,AL137457,AL390174,CH471055,AB007871,AB032982,AF427144,AF464189,AK054831,AK094355,AK126331,AU120948,BC039300,BC140004 NP_001028289,NP_055665,EAW63950,EAW63951,BAA24841,BAA86470,AAN07095,AAN57784,AAH39300,O43295,Q8IXS7,Q9ULR4,AAI72359 Hs.654743 ARHGAP14|KIAA0411|MEGAP|SRGAP2|WRP SLIT-ROBO Rho GTPase activating protein 2|SLIT-ROBO Rho GTPase-activating protein 3|WAVE-associated Rac GTPase activating protein|WAVE-associated Rac GTPase-activating protein|mental disorder-associated GAP|rho GTPase-activating protein 14 protein-coding 1346396 SRGN serglycin This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. [provided by RefSeq] 15136585,11154222,18000860,17909965,15788411,15489334,14739229,14506241,12477932,12388539,11469527,11012225,10228010,9334256,8613703,7821789,7559813,4062880,3402609,3366780,3214420,2835370,2798108,2726751,2714783,11911826,16870619,2180935,1377686,16189514,12766061,15342556,16712791,14630798,16713569 5552 NM_002727,AL442635,CH471083,M33651,AI347627,AK311873,BC015516,BC022313,BG057351,BG548665,CA308463,CB110512,CR603277,CR609954,CR610350,CR612769,CR616782,CR626092,CR626802,D28395,J03223,X12765,X17042,BP335278,BQ051861,CD677686,NR_036430 NP_002718,CAH71778,EAW54309,EAW54310,AAA60322,BAG34814,AAH15516,BAA05761,AAA60179,CAA31255,CAA34900,P10124,ABM82368,ABM85546 Hs.1908 FLJ12930|MGC9289|PPG|PRG|PRG1 hematopoetic proteoglycan core peptide|hematopoetic proteoglycan core protein|p.PG|platelet proteoglycan core protein|platelet proteoglycan protein core|proteoglycan 1, secretory granule|proteoglycan protein core for mast cell secretory granule|secretory granule proteoglycan 1|secretory granule proteoglycan core peptide|secretory granule proteoglycan core protein|serglycin|serglycin proteoglycan protein-coding 1603229 SRI sorcin 19913121,20628086,20647321,9668070,16130169,17699613,17541155,16934756,16931553,16320026,16189514,16169070,15862967,15808837,15489334,15231748,12804766,12754254,12477932,12411058,12408767,11714909,10748169,9570944,9268363,8561500,7873602,7835417,7592856,2901906,1286667,17643375,18315902,18423116,20858460 6717 NM_198901,NM_003130,AC003991,AC005075,CH236949,CH471091,AK129770,AK295225,AK296601,AK310366,AL039198,AL117616,AL576812,BC011025,BI559592,BI597920,BM739144,BM793972,BU854353,CR604298,CR606029,CR610114,CR619016,CR625185,L12387,M32886 NP_944490,NP_003121,AAB96327,EAW76909,EAW76910,EAW76911,BAG58218,BAG59214,AAH11025,AAA92155,AAA60588,P30626,Q75MZ6 Hs.489040 CP22|FLJ26259|SCN 22 kDa protein|CP-22|H_RG167B05.1|OTTHUMP00000205590|OTTHUMP00000206386|OTTHUMP00000213080|V19|calcium binding protein amplified in mutlidrug-resistant cells|sorcin protein-coding 1346786 SRIL sorcin-like 9847074 6644 NG_003017,AC096725 SRIL pseudo 4110704 SRIP2 sorcin pseudogene 2 100499485 AL121872,NG_027484 pseudo 1315254 SRL sarcalumenin 16344560,14702039,8681137,2762314 6345 NM_001098814,AC009171,AK056588,AK302601,AL831973,AL832361,BX647476,DA563862,DB149163,F26773 NP_001092284,BAG51756,BAG63851,CAD89901,Q86TD4,AAI60181 Hs.10041 sarcalumenin protein-coding 732806 SRM spermidine synthase The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq] 1580863,1300048 2069720,17585781,15489334,12477932,9020892,8343131,7774716,7629810,3481684,3248683,2730590,2344393,20562859,19615732 6723 NM_003132,AL109811,CH471130,M64231,BC000309,BC033106,CR590206,CR596521,CR603559,CR604523,CR605847,CR615659,CR617564,CR625228,M34338 NP_003123,CAI22104,EAW71675,EAW71676,AAA60574,AAH00309,AAH33106,AAA36633,P19623,ACE87156,ACE86475 Hs.76244 PAPT|SPDSY|SPS1|SRML1 putrescine aminopropyltransferase|spermidine synthase|spermidine synthase-1 protein-coding 1345666 SRML2 spermidine synthase-like 2 6724 1345441 SRMP1 spermidine synthase pseudogene 1 170552 NG_001057,AL121777 dJ1057D4.1 pseudo 1353214 SRMP2 spermidine synthase pseudogene 2 326269 NG_002532,AL160236,AY165512 pseudo 1315310 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 1580863 11780052,7935409 6725 NM_080823,AL121829,CH471077 NP_543013,CAC15526,EAW75261,Q9H3Y6,AAI48644,AAI53199 Hs.411061 C20orf148|SRM|dJ697K14.1 tyrosine-protein kinase Srms protein-coding 1318313 SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein) 1580863 8196634,17353931,2557625,18455985,15635413,15489334,12477932,11790298,11089964,9016560,7542942,2153922,17207965,16169070,18089836,19710015,20348448 6727 NM_003134,AC025168,CH471125,AB061546,AB451391,BC035495,BC051006,BC071716,BC100031,CR596116,CR610388,CR610442,CR610559,CR614758,CR620250,CV575824,U07857,X73459 NP_003125,EAW92390,EAW92391,BAB69067,BAG70205,AAH35495,AAH71716,AAI00032,AAA59066,CAA51838,P37108,ADQ32219 Hs.533732 ALURBP|MGC14326 18 kDa Alu RNA-binding protein|signal recognition particle 14 kDa protein protein-coding 1603145 SRP14P1 signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1 19773279 390284 NG_012939,AC005840 pseudo 1318204 SRP19 signal recognition particle 19kDa 1580863 10618370,1678319,18029348,17434535,15635413,15489334,12477932,12244299,12050674,11682607,11641499,9016569,2460823,1651174,18089836,20179341 6728 NM_003135,AC008575,CH471086,CS185567,AK311803,BC000186,BC010947,BC017830,BC018669,X12791 NP_003126,EAW48999,EAW49000,CAJ42748,BAG34746,AAH10947,AAH17830,CAA31280,P09132,Q05D77 Hs.637001 OTTHUMP00000223354|OTTHUMP00000223355|signal recognition particle 19 kDa protein protein-coding 1350478 SRP54 signal recognition particle 54kDa 9511762,14729963,10618370,16344560,15489334,12477932,12244299,11680843,10497032,9512475,9016569,8722571,20516149,18089836,20379614,8247130,8622769 6729 NM_003136,NM_001146282,AL049776,X86373,AK293319,AK300824,AK312853,BC000652,BC003389,CR613877,CR622716,DA495064,U51920 NP_003127,NP_001139754,CAA60132,BAG56838,BAG62478,BAG35706,AAH00652,AAH03389,AAC50994,P61011 Hs.167535 signal recognition particle 54 kDa protein protein-coding 1313366 SRP68 signal recognition particle 68kDa The signal recognition particle (SRP) is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. This gene encodes the 68kDa component of the SRP. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 18029348,10618370,16672232,15489334,15252450,14702039,12477932,11281415,9399828,8388879,17254600,17643375,18089836,19615732 6730 AK098159,AK126258,AK074698,AK097962,NM_014230,AC040980,CH471099,CQ783601,AF195951,AK002002,AK027320,AK027322,AK092935,AK301100,AL512708,BC000760,BC013308,BC020238,DQ786315 BAG53557,BAB55041,BAG54299,NP_055045,EAW89358,EAW89359,EAW89360,EAW89361,EAW89362,EAW89363,CAF86767,AAF24308,BAG51001,BAB55040,BAC11145,BAG62699,AAH20238,Q96K97,Q96K98,Q9UHB9 Hs.514495 signal recognition particle 68 kDa protein protein-coding 3401209 SRP68P1 signal recognition particle 68kDa pseudogene 1 10615134,11997339 252841 AC022596,AC098850,NG_001591 SRPSMCR pseudo 3401281 SRP68P2 signal recognition particle 68kDa pseudogene 2 11997339 252840 AC107983,NG_001590 SRPSMCR pseudo 3323317 SRP68P3 signal recognition particle 68kDa pseudogene 3 11997339 347717 AC015818,NG_002720 SRPSMCR pseudo 1314481 SRP72 signal recognition particle 72kDa 1580863 18029348,20729213,18441046,16672232,15588816,15146197,14702039,12477932,10964510,10618370,9857079,9399828,9373149,9224693,8889548,8388879,8125298,2830980,15231748,17254600,17643375,18089836 6731 NM_006947,AC114766,CH471057,AF038851,AF069765,AF077019,AF086131,AK023480,AK225430,AK307397,BC017057,BC032609,BC040134,BC046143,BC056901,BC065018,BC105583,BM985419,BX537991,CN270014,CR591976,CR594639,CR594794,CR599217,CR603949,CR607051,CR609738,CR622945,DB487204 NP_008878,EAX05495,EAX05496,EAX05497,EAX05498,AAQ13423,AAC97490,AAC27324,AAH17057,AAH32609,AAH40134,AAH46143,AAI05584,CAD97950,O15302,O76094,Q0D2M6,Q71V07,Q7Z3C0,Q86X80,AAI60164 Hs.237825 OTTHUMP00000218925|signal recognition particle 72 kDa protein protein-coding 1351238 SRP72P1 signal recognition particle 72kDa pseudogene 1 414747 1353021 SRP72P2 signal recognition particle 72kDa pseudogene 2 414748 1348001 SRP9 signal recognition particle 9kDa 1580863 7730321,18549262,16344560,15635413,15489334,12477932,11089964,9110174,8619474,7518078,2153922,12775420,17154533,20348448 6726 NM_003133,AC099066,CH471098,AF070649,AK289595,AL050363,BC008443,BC015094,BC017414,BC021995,BC022415,BC064351,NM_001130440,BC066957,BC067845,BC106005,CR590096,CR595691,CR596336,CR596418,CR602546,CR602688,CR610100,CR618157,CR619100,CR619235,CR620348,CR622995,DA983529,DB194289,EF488978,U20998 NP_001123912,NP_003124,EAW69750,EAW69751,EAW69752,EAW69753,BAF82284,CAH56414,AAH08443,AAH15094,AAH17414,AAH21995,AAH22415,AAH64351,AAH66957,AAH67845,AAI06006,ABP02070,AAA70170,P49458,Q659G3,Q6NVX0,Q6P2S0,Q8WTW0,Q8WVW9 Hs.511425,Hs.706900 ALURBP|MGC110981 signal recognition particle 9 kDa protein protein-coding 1345790 SRP9L1 signal recognition particle 9-like 1 11181995 653226 NG_012272,AL359707,CH471066 EAW50106 SRP9L1 pseudo 1317950 SRPK1 SFRS protein kinase 1 This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. A second alternatively spliced transcript variant for this gene has been described, but its full length nature has not been determined. [provided by RefSeq] 1580863 16344560,20098747,11509566,10196197,17353931,8208298,15034300,19240134,18687337,18342604,18155240,17517895,17360743,17332336,17223538,17081983,16223727,16209947,16122776,15635413,15489334,15324660,14701833,14574404,14559993,14555757,12565829,12477932,12417631,12134018,10390541,10340541,10198174,10049757,9472028,8798720,12565863,18029348,19477182,19553338,19674106,20379614,9237760,20498328,20708644 6732 DB233331,NR_034069,CH471081,Z99128,AJ318054,AK292277,AK299591,AK312712,BC038292,NM_003137,BG772464,BX648663,BX648697,CR592560,CR593143 NP_003128,EAX03853,EAX03854,EAX03855,EAX03856,EAX03857,EAX03858,EAX03859,EAX03860,CAI20543,CAI20544,CAI20545,CAC39299,BAF84966,BAG61523,AAH38292,Q5R363,Q96SB4 Hs.443861 SFRSK1 OTTHUMP00000016276|OTTHUMP00000222678|SFRS protein kinase 1|SR protein kinase 1|SR-protein-specific kinase 1|serine/arginine-rich protein-specific kinase 1|serine/arginine-rich splicing factor kinase 1|serine/threonine-protein kinase SRPK1 protein-coding 1312944 SRPK2 SFRS protein kinase 2 9472028,17353931,18559500,18425142,16189514,16122776,15592455,15489334,15144186,14702039,12853948,12477932,12134018,10196197,9446799,9171351,8208298,12565863,18029348,19592491,19902070,20379614,20498328 6733 NM_182692,NM_182691,AC004884,AC005070,AC073138,CH236947,CH471070,AK092977,AK093420,AW086157,AY354201,BC035214,BC068547,BI918658,BM805927,CR617569,CR624570,U88666 NP_872634,NP_872633,AAS00352,AAC29140,AAC29141,EAW83359,EAW83360,EAW83361,AAQ63886,AAH35214,AAH68547,AAC05299,P78362,Q75MW9,ABM82263,ABM85445 Hs.285197 FLJ36101|SFRSK2 H_RG152G17.1a|H_RG152G17.1b|OTTHUMP00000212093|SFRS protein kinase 2|SR protein kinase 2|SR-protein-specific kinase 2|WUGSC:H_RG152G17.1a|serine kinase SRPK2|serine/arginine-rich protein-specific kinase 2|serine/arginine-rich splicing factor kinase 2|serine/threonine-protein kinase SRPK2 protein-coding 1349288 SRPK3 SFRS protein kinase 3 1580863 16140986,12477932,11063724,14559993 26576 NM_014370,CH471172,AF027406,AK301749,AK314828,BC092416,BC117124,DQ099381,U82808,NG_016329,NM_001170760,NM_001170761 NP_055185,EAW72812,EAW72813,EAW72814,AAD01848,BAG63211,AAH92416,AAI17125,AAZ13757,AAD00539,Q4F970,Q562F5,Q9UPE1,NP_001164231,NP_001164232 Hs.104865 MGC102944|MSSK-1|MSSK1|STK23 MSSK-1|OTTHUMP00000025940|OTTHUMP00000025943|OTTHUMP00000214781|SFRS protein kinase 3|SR-protein-specific kinase 3|muscle-specific serine kinase 1|serine arginine rich protein-specific kinase 3|serine/arginine-rich protein-specific kinase 3|serine/threonine kinase 23|serine/threonine-protein kinase 23|serine/threonine-protein kinase SRPK3 protein-coding 1322997 SRPR signal recognition particle receptor (docking protein) 1580863 2827661,15592455,12477932,3340536,3021779,1312991,15489334,16169070 6734 NM_003139,AP001318,CH471065,AK130382,AK303379,AK312377,BC001162,BC008077,BC009110,BC013583,CR457025,X06272,AI422194,NM_001177842 NP_003130,EAW67684,EAW67685,EAW67686,BAG64435,BAG35295,AAH01162,AAH09110,AAH13583,CAG33306,CAA29608,P08240,Q6IAX9,ABM82402,ABM85590,NP_001171313 Hs.368376 DP|MGC17355|MGC3650|MGC9571|SRP-alpha|Sralpha DP-alpha|SR-alpha|SRP-alpha|docking protein alpha|signal recognition particle receptor subunit alpha protein-coding 1312294 SRPRB signal recognition particle receptor, B subunit The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. 1580863 17207965,17353931,17080297,16303743,15489334,14702039,12918107,12477932,10459008,7844142,16169070,19615732,19664239 58477 NM_021203,AC080128,CH471052,AF086914,AF141882,AK027307,AK027525,AK075531,BC063001,BC065299,CR619408,CR621456,CR625077,BC019005,CS051373,DB448771 ADQ32575,NP_067026,EAW79160,EAW79161,EAW79162,AAP97144,AAD34888,BAB55176,BAC11675,AAH63001,AAH65299,Q549N5,Q9Y5M8,CAI72181 Hs.12152 APMCF1 OTTHUMP00000216377|SR-beta|signal recognition particle receptor subunit beta|signal recognition particle receptor, beta subunit protein-coding 1345951 SRPSMCR signal recognition particle, Smith Magenis syndrome chromosome region 10615134 27167 733583 SRPX sushi-repeat-containing protein, X-linked 1580863 8634709,12493773,8634708,19424611,15772651,15489334,15021917,12874760,12716466,12477932,12152160,9162095,16344560,19596235,19615732,19862339,8889548,20406461 8406 NM_006307,AL121578,AL133494,AL606748,AL627246,CH471141,S82496,AK125542,AK289430,AK293127,AK298802,BC020684,CR591734,CR592953,CR597663,CR604296,CR606094,CR609268,CR613384,CR622289,CR623087,CR625902,U61374,U78093,BM672597,DA422854,DC388035,NG_016373,NM_001170750,NM_001170751,NM_001170752 NP_006298,CAI95406,EAW59445,EAW59446,EAW59447,AAB37378,AAB37379,BAG54210,BAF82119,BAG56679,BAG60937,AAH20684,AAB40715,AAB36685,P78539,NP_001164221,NP_001164222,NP_001164223 Hs.15154 DRS|ETX1|SRPX1 sushi repeat-containing protein SRPX|sushi-repeat-containing protein|sushi-repeat-containing protein, X chromosome|sushi-repeat-containing protein, X-linked protein-coding 1350450 SRPX2 sushi-repeat-containing protein, X-linked 2 737633 19667118,19065654,18718938,17942002,16497722,16344560,16303743,15772651,15489334,15342556,12477932,11822025,11375929,9864177,20236627 737633 27286 NG_021337,NM_014467,AL035608,AL391688,CH471115,AF060567,AF393649,AK075462,AU104738,BC020733,BP279501,BU625416,BX339682,DA707631 NP_055282,CAI42847,CAI41009,EAX02812,AAC15765,AAM73693,BAG52145,AAH20733,O60687 Hs.306339 BPP|CBPS|PMGX|RESDX|SRPUL sushi repeat-containing protein SRPX2|sushi-repeat protein up-regulated in leukemia|sushi-repeat-containing protein, X-linked 2 protein-coding 1352406 SRR serine racemase 1580863 11054547,19223009,17880399,17697119,17413456,17413455,17067558,16837850,16446740,15953485,15536068,15489334,15219883,15193426,14702039,12621583,12560076,12477932,9373149,8125298,12021263,20385472,16314870,18583979,15681805,18812225,19483194,19584346,20106978,20174558,16714286 63826 NM_021947,AL450226,CH471108,AF169974,AK023169,AK223120,AL834378,AY034081,AY743705,AY743706,AY743707,AY743708,BC057234,BC074728,CR457300,HB921024,HC978433,GN098580 NP_068766,EAW90553,EAW90554,EAW90555,AAG27081,BAB14442,BAD96840,CAD39041,AAK58495,AAW66460,AAW66461,AAW66462,AAW66463,AAH74728,CAG33581,Q3ZK31,Q53G11,Q8N3F4,Q9GZT4,CBF95504,CBV09024,CAY04175 Hs.461954 ILV1|ISO1 serine racemase protein-coding 1606069 SRRD SRR1 domain containing 18029348,18293417,16344560,15489334,12477932,10591208,8889548,8806657 402055 NM_001013694,CH471095,Z99714,AK293916,BC066962,BQ189353,CR616197,CR616290,DA325985,U63541 NP_001013716,EAW59721,CAB62929,BAG57298,AAH66962,AAF77225,Q9NNX4,Q9UH36 Hs.709914 HC/HCC|SRR1L SRR1 domain-containing protein|SRR1-like protein|hepatocellular carcinoma complicating hemochromatosis protein-coding 1322619 SRRM1 serine/arginine repetitive matrix 1 1580863 9531537,17353931,12226669,17081983,16964243,16710414,16354706,16159877,15489334,15345747,15324660,15302935,15144186,15024032,12944400,12624182,12600940,12581738,12477932,12093754,11991638,11991360,11739730,11546874,11118221,10908574,10809668,10668804,10339552,9933612,9472028,11101529 10250 NM_005839,AL445648,AL445686,CH471134,AF048977,AF419855,AK293576,AK307419,AK307568,BC011019,BC017315,BC036187,BG720378,CX782666,AK302498 NP_005830,CAH73089,CAH73090,CAI14682,CAI14683,EAW95138,EAW95139,EAW95140,AAC09321,AAP97290,BAG57046,AAH36187,Q8IYB3,BAH13726 Hs.18192 160-KD|MGC39488|POP101|SRM160 SR-related nuclear matrix protein of 160 kDa|Ser/Arg-related nuclear matrix protein|plenty of prolines 101-like|serine/arginine repetitive matrix protein 1 protein-coding 1353318 SRRM1L serine/arginine repetitive matrix 1-like 401475 NG_011412,AC020688 SRRM1L|SRRM1P pseudo 3051030 SRRM1P2 serine/arginine repetitive matrix 1 pseudogene 2 100420834 AC092825,NG_022252 pseudo 3102881 SRRM1P3 serine/arginine repetitive matrix 1 pseudogene 3 100130190 AL390879,NG_022643 pseudo 1320904 SRRM2 serine/arginine repetitive matrix 2 17577209,19615732,19789211,19854871,15345747,15616553,15489334,15324660,15302935,15144186,14578391,12477932,11991638,11004489,10908574,10668804,9531537,9205841,15778465,17353931,17081983,16964243,16565220,16083285,20161708 23524 AL833672,NM_016333,AC004493,AC092117,CH471112,AB002322,AB015644,AB016087,AB016088,AB016089,AB016090,AB016091,AB016092,AF201422,AI083775,AK025579,AK025903,BC007752,BC009062,BC020639,BC028054,BC032416,BC041155,BC046104,BC070050,BC107087,BX647088,CR600414,CR621486,CR623330,HI574200 CAI46153,Q5JPB4,NP_057417,AAC08453,EAW85477,EAW85478,EAW85479,EAW85480,EAW85481,EAW85482,EAW85483,BAA20782,BAA34957,BAA83713,BAA83714,BAA83715,BAA83716,BAA83717,BAA83718,AAF21439,AAH07752,AAH09062,AAH20639,AAH41155,AAH46104,AAH70050,AAI07088,A0AUK8,O60382,Q05BI2,Q05CV9,Q9UQ35,Q9UQ39,CBX47589 Hs.433343,Hs.720861 300-KD|CWF21|Cwc21|DKFZp667L0421|DKFZp686O15166|FLJ21926|FLJ22250|KIAA0324|MGC40295|SRL300|SRm300 300 kDa nuclear matrix antigen|RNA binding protein|SR-related nuclear matrix protein of 300 kDa|ser/Arg-related nuclear matrix protein of 300 kDa|serine/arginine repetitive matrix protein 2|serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa|splicing coactivator subunit SRm300|tax-responsive enhancer element-binding protein 803|taxREB803 protein-coding 2801093 SRRM5 serine/arginine repetitive matrix 5 12477932,14702039,8889548 100170229 AC006276,AK093056,BC034980,BM679887,NM_001145641 AAH34980,BAG52643,NP_001139113,Q4G0Z0,B3KS81 Hs.722032 FLJ35737|ZNF576 serine/arginine repetitive matrix 5|serine/arginine repetitive matrix protein 5|zinc finger protein 576, isoform 2 protein-coding 1604811 SRRT serrate RNA effector molecule homolog (Arabidopsis) 17353931,11239002,19632182,18086880,17672918,17081983,16964243,16344560,16169070,15489334,15345747,15302935,15009096,12869526,12690205,12477932,11230166,10069470,20639392,19546234 51593 NM_001128853,NM_001128852,NM_001128854,AC011895,AF237614,AF312032,CH236956,CH471091,AF082871,AF112994,NM_015908,AF248955,AK296131,AK302820,AK311728,AL096723,AW770857,BC000082,BC069249,BC109116,BC109117,BE247268,BE297447,BF515651,BG477711,BG685713,BQ059529,CR610730,CR615585,DA611314 NP_056992,NP_001122325,NP_001122324,NP_001122326,AAG24951,AAK21005,AAK21006,EAL23815,EAL23816,EAW76465,EAW76466,EAW76467,AAD17774,AAP97227,AAM00189,BAG58876,BAG64018,CAB46374,AAH00082,AAH69249,AAI09118,Q7Z4Y3,Q9BXP5,Q9HBI2 Hs.111801 ARS2|ASR2|MGC126427|serrate OTTHUMP00000211335|arsenate resistance protein 2|arsenate resistance protein ARS2|arsenite resistance protein|arsenite-resistance protein 2|serrate RNA effector molecule homolog protein-coding 1343475 SRS Snyder-Robinson X-linked mental retardation syndrome 6735 4889751 SRSF1P1 serine/arginine-rich splicing factor 1 pseudogene 1 100128625 AL355478,NG_011455 pseudo 1316466 SRXN1 sulfiredoxin 1 homolog (S. cerevisiae) 20718723,15448164,19057013,18593714,18579529,18172504,17176052,16818657,16565085,16381901,15952770,15590625,15489336,15489334,12477932,11780052,11230166,11181995,11076863,19027064,19561357,19812042 140809 NM_080725,AL121758,CH471133,AF075053,AK098418,AK125343,AK127435,AK312054,AL833944,AY427953,BC017001,BC032604,BC047707 NP_542763,CAI23005,BAC05302,BAG34990,CAD38799,AAR87853,AAH17001,AAH32604,AAH47707,Q9BYN0,CAL38018,CAL38719 Hs.516830,Hs.355284,Hs.727541 C20orf139|Npn3|SRX1|YKL086W|dJ850E9.2 chromosome 20 open reading frame 139|sulfiredoxin 1 homolog|sulfiredoxin-1 protein-coding 737205 SRY sex determining region Y This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq] 1599179,1598780,1580863 15527767,1695712,1425584,8265659,19376480,19199262,19030103,19007850,18990383,18851760,18598779,18454134,18453550,18412126,18391513,18304538,18271004,18184266,18056774,17762975,17063144,16996051,16904257,16762365,16756388,16510537,16504207,16414182,16411204,15746192,15579790,15579656,15489334,15469996,15300641,15297880,15266301,15170344,15155818,14660691,12970737,12919143,12871148,12815422,12764225,12575752,12483463,12477932,12215841,12107262,11990798,11912443,11869379,11818535,11641389,11585838,11563911,11278460,11062480,10852465,10843173,10732804,10721678,10670762,10235389,9678356,9525897,9521592,9450909,9443877,9346931,9150734,9143916,9054412,8447323,8434602,8353496,8257986,8244390,8159753,8122913,8105086,8054981,8019555,7985018,7876301,7776083,7774012,7718558,7717397,7633446,7557997,2909893,2247151,2247149,1956279,1639410,1619028,1570829,1483689,1415266,1339396,20528776,19349578,20689145,19661285,20347080,16166090,18029348,19188812,19372376,19531589,19650415,19850934,19852431,19902333 1599179,1598780 6736 NG_011751,AC006040,AJ421270,AY320232,AY330304,AY330305,AY573238,AY601852,AY601853,AY601854,AY601855,AY601856,AY601857,AY601858,AY601859,AY601860,AY608625,AY608626,AY998484,AY998485,NM_003140,AY998486,AY998487,AY998488,AY998489,AY998490,AY998491,DQ086140,DQ086141,L08063,L10102,X53772,X96421,BC074923,BC074924,L10101,S53156,S56543,FN568067,FN568068,FN568069,FN568070,FN568071,FN568073,FN568074,FN568075,FN568076,FN568077,FN568078,FN568079,FN568080,FN568081,FN568082,FN568083,FN568084,FN568085,FN568086,FN568087,FN568088,AM884747,AM884750 NP_003131,CAD13147,AAP88266,AAP88269,AAP88270,AAS79428,AAT39011,AAT39012,AAT39013,AAT39014,AAT39015,AAT39016,AAT39017,AAT39018,AAT39019,AAT37461,AAT37462,AAY15119,AAY15120,AAY15121,AAY15122,AAX93511,AAX93512,AAX93513,AAY15123,AAY88211,AAY88212,AAA16878,AAA60591,CAA37790,CAA65281,AAH74923,AAH74924,AAA60590,AAB25008,AAB25716,Q05066,Q4JI39,Q52MX7,Q52MX8,Q52MX9,Q52MY0,Q52MY1,Q52MY2,Q52MY3,Q6J0W4,Q6J0W5,Q6J4I5,Q6J4J1,Q6PWT1,Q7Z5C4,Q7Z5C5,Q7Z5C8,Q8WZ47,ABZ92392,CBH40188,CBH40189,CBH40190,CBH40191,CBH40192,CBH40194,CBH40195,CBH40196,CBH40197,CBH40198,CBH40199,CBH40200,CBH40201,CBH40202,CBH40203,CBH40204,CBH40205,CBH40206,CBH40207,CBH40208,CBH40209,CAP05198,CAP05201 Hs.1992 TDF|TDY essential protein for sex determination in human males|sex determining region on y|sex determining region protein|sex-determining region Y protein|sex-determining region on Y|testis-determining factor protein-coding 1606967 SRrp35 serine-arginine repressor protein (35 kDa) 11684676,15489334,15342556,14702039,12477932,20516191 135295 NM_080743,AL353135,CH471051,AA889416,AF449428,AK027365,AK090803,AK123215,AK314008,BC021715,BP244338 NP_542781,CAI16247,EAW48561,EAW48562,AAL57515,BAG53879,BAG36719,AAH21715,Q8WXF0,ABM82996,ABM86189 Hs.254414 FLJ14459|FLJ33484|FLJ41221|RP11-63L7.3|SFRS13B|SFRS19|SRrp35 35 kDa SR repressor protein|SR splicing factor 12|serine-arginine repressor protein (35 kDa)|serine/arginine-rich splicing factor 12|splicing factor, arginine/serine-rich 13B|splicing factor, arginine/serine-rich 19 protein-coding 1323627 SS18 synovial sarcoma translocation, chromosome 18 1580863,1599184 10072425,19385976,19337376,18997619,18992642,18714179,18234968,17721327,17667940,17101797,17018603,16484776,16462762,16247461,16227627,16152617,15919756,15489334,14603256,12878157,12477932,12037676,11734557,11591653,11423977,11368913,11308259,11030627,9285794,8152806,7951320,7495284,20936779,20660338,19649286,19936258,20198325 1599184 6760 NM_005637,NM_001007559,AC091021,CH471088,AF161377,AF244972,AF343880,AK289510,AK296949,AK299082,AK301504,AK304305,AK307923,AK316302,AK316338,AU279615,AW081610,BC096221,BC096222,BC096223,BC096224,CR542088,CR542103,X79201,EF445031 NP_005628,NP_001007560,EAX01209,EAX01210,EAX01211,EAX01212,EAX01213,AAF28937,AAM00188,AAK21314,BAF82199,BAG59495,BAG61146,BAG63015,BAG65158,BAH14673,BAH14709,AAH96221,AAH96222,AAH96223,AAH96224,CAG46885,CAG46900,CAA55792,Q15532,Q4VAX0,Q4VAX2,Q6FGL9,Q8IZG5,Q8IZG6,Q8IZG7,Q8IZG8,Q8IZG9,Q8IZH0,Q8IZH1,Q8TDQ9,Q9Y444,ACE87773,ACA06073,ACT64439 Hs.404263 MGC116875|SSXT|SYT|SYT-SSX1|SYT-SSX2 protein SSXT|synovial sarcoma translocated to X chromosome protein|synovial sarcoma, translocated to X chromosome protein-coding 1345361 SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L1 gene is homologous to SS18.[supplied by OMIM] 1580863 19081374,19279220,14716005,16484776,16189514,15866867,15489334,12696068,12477932,11780052,11435705,9734811,19615732,19724895,19851296,20198315 26039 NM_198935,AL078633,CH471077,AB014593,AK125656,AK291485,AK299881,AK308765,AY203931,BC034494,BC068993,BX640848 NP_945173,CAC29252,CAI18836,EAW75389,EAW75390,EAW75391,EAW75392,EAW75393,EAW75394,EAW75395,EAW75396,BAA31668,BAF84174,BAG61729,AAP34454,CAE45918,O75177,Q9BR54,ABM81834,ABW03300,BAG54230,AAH34494,AAH68993 Hs.154429 CREST|KIAA0693|LP2261|MGC26711|MGC78386 SS18-like protein 1|SYT homolog 1|calcium-responsive transactivator protein-coding 1347853 SS18L2 synovial sarcoma translocation gene on chromosome 18-like 2 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM] 15489334,12477932,11435705 51188 NM_016305,AC092047,CH471055,AF201950,AI027415,AK312225,BC017804,BC020444,CR600040,CR609606,DR158587 NP_057389,EAW64657,EAW64658,AAF17242,BAG35158,AAH17804,Q9UHA2,ABM82891,ABW03464 Hs.534454 KIAA-iso OTTHUMP00000162605|SS18-like protein 2|SYT homolog 2 protein-coding 1344848 SSAV1 simian sarcoma-associated virus 1/gibbon ape leukemia virus-related endogenous retroviral element 1 10072578,9226372 6739 Y10937 1346358 SSAV1L simian sarcoma-associated virus 1-like/gibbon ape leukemia virus-related endogenous retroviral element 1-like 1602831 6740 1348902 SSB Sjogren syndrome antigen B (autoantigen La) La is involved in diverse aspects of RNA metabolism, including binding and protecting 3-prime UUU(OH) elements of newly RNA polymerase III (see MIM 606007)-transcribed RNA, processing 5-prime and 3-prime ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. La protein was originally defined by its reactivity with autoantibodies from patients with Sjogren syndrome (MIM 270150) and systemic lupus erythematosus (SLE; MIM 152700) (Teplova et al., 2006 [PubMed 16387655]).[supplied by OMIM] 1580863 9154801,17353931,10983981,3192525,19287396,19264640,19074175,18550659,18547518,18282467,17985193,17945310,17875783,17719568,17552056,17308035,17081983,16906225,16849479,16682524,16467037,16387655,16344466,16320341,16107699,15928345,15823607,15685555,15572691,15489334,15485924,15371415,15302879,15213463,15084396,15004549,14636586,14617813,12584332,12540850,12477932,12458796,12457960,12384597,12121976,12102760,12096904,12049746,11580243,10715123,9415639,9173875,9054510,7964483,7933082,3856888,2470590,2468131,2464497,2452201,1692037,15574333,12963047,10964780,17064465,17346312,12033793,18029348,19567621,20497049 6741 CR620968,CR625880,DQ185046,J04205,M20328,M35261,M35262,M35263,X13697,X14684,X69804,CR618345,AC009967,CH471058,AB451228,AB451351,BC001289,BC020818,BT009862,CR598451,CR599289,CR606482,CR608623,CR608625,CR609037,CR613978,CR617465,NM_003142 ABD14426,AAA51885,AAA36577,AAA36652,AAA36654,AAA36653,CAA31985,CAA32815,P05455,Q14730,Q2F832,Q9UMH5,Q9UMH6,Q9UMH7,ABM85385,NP_003133,AAY14868,EAX11256,EAX11257,EAX11258,EAX11259,BAG70042,BAG70165,AAH01289,AAH20818,AAP88864 Hs.632535 LARP3|La La ribonucleoprotein domain family, member 3|OTTHUMP00000204777|SS-B|SS-B/La protein|autoantigen La|la autoantigen|lupus La protein|sjoegren syndrome type B antigen protein-coding 736464 SSBP1 single-stranded DNA binding protein 1 SSBP is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]).[supplied by OMIM] 1580863 12975372,18063578,19066201,18305033,16428295,15489334,12853948,12690205,12477932,20434493,12479417,12464025,12381786,11964388,11556757,10827171,9452467,9033597,8482537,7789991,15710247,16407974,18029348,19605351,19683501,19759019,19786724,20877624,20843780 6742 NM_003143,AC004918,AC004979,CH236950,CH471070,AF277319,AK294393,AK313033,BC000895,BC008402,BC093054,M94556,HQ206146,HQ206147,HQ206148,HQ206149,HQ206150,HQ206151,HQ206152,HQ206153,HQ206154,HQ206155,HQ206156,HQ206157,HQ206158,HQ206159,HQ206160,HQ206161,HQ206162,HQ206163,HQ206164,HQ206165,HQ206166,HQ206167,HQ206168,HQ206169,HQ206170,HQ206171,HQ206172,HQ206173,HQ206174,HQ206175,HQ206176,HQ206177,HQ206178,HQ206179,HQ206180,HQ206181,HQ206182,HQ206183,HQ206184,HQ206185 NP_003134,AAS02037,EAL24018,EAW83978,EAW83979,EAW83980,EAW83981,AAK69112,BAH11754,BAG35866,AAH00895,AAH08402,AAH93054,AAA36332,Q04837,Q567R6,Q75MV9,Q96QL6,ABM84297,ABM87692,ADP92054,ADP92055,ADP92056,ADP92057,ADP92058,ADP92059,ADP92060,ADP92061,ADP92062,ADP92063,ADP92064,ADP92065,ADP92066,ADP92067,ADP92068,ADP92069,ADP92070,ADP92071,ADP92072,ADP92073,ADP92074,ADP92075,ADP92076,ADP92077,ADP92078,ADP92079,ADP92080,ADP92081,ADP92082,ADP92083,ADP92084,ADP92085,ADP92086,ADP92087,ADP92088,ADP92089,ADP92090,ADP92091,ADP92092,ADP92093 Hs.490394 Mt-SSB|SOSS-B1|SSBP|mtSSB OTTHUMP00000212289|OTTHUMP00000212290|OTTHUMP00000212293|PWP1-interacting protein 17|single-stranded DNA-binding protein, mitochondrial protein-coding 1344325 SSBP2 single-stranded DNA binding protein 2 1580863 12079286,11256614,18618714,18559593,17311003,16189514,15782145,15489334,14702039,12477932,11230166,11042152,10931946,16407974,17437998,19658100,19683501,20379614,21079607 23635 NM_012446,AC010623,AC016562,AC026419,AC093250,AY026275,CH471084,AA013030,AF077048,AF161465,AK074537,AK293544,AK294864,AK297494,AK299858,AK312337,AL080076,BC017020,BI517313,BX397789,BX413405,CR591669,CR592248,CR600178,CR600282,CR601556,CR605486,CR613597,CR936787 NP_036578,AAK15803,EAW95879,EAW95880,AAD27781,AAF29080,BAC11046,BAH11528,BAH11905,BAH12593,BAH13151,BAG35258,CAB45699,AAH17020,EAW95878,Q9P038,ABM82546,ABM85738,ABW03393,ACE87246,ACE86564,EAW95877,P81877 Hs.102735 DKFZp686F03273|HSPC116|SOSS-B2 OTTHUMP00000222367|OTTHUMP00000222368|OTTHUMP00000222369|OTTHUMP00000222370|OTTHUMP00000222371|OTTHUMP00000222372|sequence-specific single-stranded-DNA-binding protein 2|single-stranded DNA-binding protein 2 protein-coding 731988 SSBP3 single stranded DNA binding protein 3 18080319,16325762,15489334,14702039,12477932,12381786,12079286,10524251,7566098,16407974,20379614,17207965,20211142 23648 NM_001009955,NM_018070,NM_145716,AL035415,AL161644,AL354778,AY026310,CH471059,AF086085,AF500116,AI565975,AK001217,AK093975,AK289474,AL519196,BC003605,BC004335,BC066365,BQ051652,CR607705 NP_001009955,NP_060540,NP_663768,CAI22487,CAI22488,CAI23558,CAI23559,CAI23560,CAI23561,CAI23562,CAI22988,AAK21984,AAK21985,EAX06688,EAX06689,EAX06690,EAX06691,EAX06692,EAX06693,AAM22101,BAA91561,BAF82163,AAH03605,AAH04335,AAH66365,Q5T865,Q9BT57,Q9BWW4,Q9NW25,ADQ32614,CAI23563 Hs.658676 CSDP|FLJ10355|SSDP|SSDP1 OTTHUMP00000009979|sequence-specific single-stranded-DNA-binding protein|sequence-specific single-stranded-dna-binding protein|single-stranded DNA-binding protein 3 protein-coding 1350792 SSBP4 single stranded DNA binding protein 4 1580863 19913121,20628086,16189514,15489334,15345747,12477932,12079286,16341674,17207965,20211142 170463 NM_032627,NM_001009998,AC008397,AY026276,AY026292,CH471106,AK098429,BC000274,BQ068310,BX400247,CA440011,CR608876,BF207000,BM851755,BU838485,CX873722 NP_116016,NP_001009998,AAK20020,EAW84697,EAW84698,EAW84699,EAW84700,EAW84701,EAW84702,AAH00274,Q9BWG4,Q9BWW5,ADQ32711 Hs.515259 MGC3181 single-stranded DNA-binding protein 4 protein-coding 1349474 SSFA1 sperm specific antigen 1 9114055 6743 1321861 SSFA2 sperm specific antigen 2 1580863 1555770,17934691,17081983,16344560,15815621,15489334,15302935,14702039,14673706,12477932,11572484,9740325,16169070,20936779 6744 AK304238,AL833431,BC012947,BC028706,BC037334,BC052581,BC064499,BX647257,BX647967,BX648182,BX648888,CR749488,DA930567,DB460982,M61199,NM_006751,AC009962,CH471058,AB067514,AB116937,AK091197,AK097375,AK098455,AK127890,AK291745,AK298186,AK298949,NM_001130445 BAG61048,BAG65107,AAH12947,AAH28706,AAH52581,AAH64499,CAH18314,AAB00773,P28290,NP_001123917,NP_006742,AAY14913,EAX10980,EAX10981,BAB67820,BAC81767,BAC03607,BAC05027,BAC05308,BAG54593,BAF84434,BAG60457 Hs.196983 CS-1|CS1|DKFZp313O1039|DKFZp779G0129|FLJ45996|KIAA1927|KRAP|SPAG13 OTTHUMP00000205486|cleavage signal-1 protein|ki-ras-induced actin-interacting protein|sperm-specific antigen 2 protein-coding 1345208 SSH1 slingshot homolog 1 (Drosophila) The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM] 1580863 17848544,16513117,16230460,15671020,15660133,15489334,15459975,15342556,15302935,15159416,15056216,14702039,14531860,12807904,12684437,12477932,10718198,19000834,11832213,17350576,14645219,19371722,18809681,18096821,18029348,19339277,19567672,20477815 54434 NM_018984,NM_001161331,NM_001161330,AC087893,CH471054,AB037719,AB072355,AB072356,AB072357,AI621348,AK025581,AK095421,BC005101,BC013792,BC020243,BC062341,BP363810,CR623842 NP_061857,NP_001154803,NP_001154802,EAW97830,EAW97831,EAW97832,EAW97833,BAA92536,BAB84114,BAB84115,BAB84116,BAC04546,AAH62341,Q8WYL5 Hs.199763 FLJ21928|FLJ38102|KIAA1298|SSH1L SSH-1L|SSH-like protein 1|hSSH-1L|protein phosphatase Slingshot homolog 1|slingshot 1 protein-coding 1319710 SSH2 slingshot homolog 2 (Drosophila) The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM] 11832213,17848544,17081983,15489334,15345747,14702039,14531860,14527359,12477932,11214970,15660133,20477815 85464 NM_033389,AC023389,AC087510,AC104564,AC104982,CH471159,AB051512,AB072358,AB072359,AB099290,AF484838,AK091432,AK094204,AK094429,AK296413,AK308887,BC008941,BC011636,BC068223 NP_203747,EAW51209,EAW51210,EAW51211,EAW51212,EAW51213,BAB21816,BAB84117,BAB84118,BAC97813,AAL92027,BAG52360,BAG59076,AAH08941,AAH11636,AAH68223,Q76I76,AAI66670 Hs.654754 KIAA1725|MGC78588|SSH-2 OTTHUMP00000163635|SSH-2L|SSH-like protein 2|hSSH-2L|protein phosphatase Slingshot homolog 2|slingshot 2 protein-coding 1318592 SSH3 slingshot homolog 3 (Drosophila) The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM] 737633,1580863 18442045,17848544,16964243,16344560,15660133,15489334,14702039,14531860,12477932,11832213,8889548 737633 54961 AP001885,CH471076,AB072360,AB099291,AF085851,AK000522,AK001790,AK074432,NM_017857,AK094226,AK124234,BC004176,BC004210,BC007709,BU689839,DB002847 NP_060327,EAW74587,EAW74588,EAW74589,EAW74590,EAW74591,EAW74592,EAW74593,EAW74594,EAW74595,EAW74596,BAB84119,BAC97814,BAA91228,BAA91913,BAB85080,BAC04314,AAH07709,Q8TE77 Hs.29173 FLJ10928|FLJ20515|FLJ42240|SSH3L SSH-3L|SSH-like protein 3|hSSH-3L|protein phosphatase Slingshot homolog 3|slingshot 3 protein-coding 1321056 SSNA1 Sjogren syndrome nuclear autoantigen 1 1580863 9430706,15489334,15269182,14654843,12477932,11591653,11076968,12221128,12852856,16462731,19615732,7790358 8636 NM_003731,AL929554,CH471090,BC000864,BC004118,BC015827,BT006766,CR542238,CR620508,DB466912,Z96932,CR611889 NP_003722,CAH72882,EAW88362,EAW88363,AAH00864,AAP35412,CAG47034,CAB09660,O43805 Hs.530314 N14|NA-14|NA14 Sjoegren syndrome nuclear autoantigen 1|Sjogren's syndrome nuclear autoantigen 1|nuclear autoantigen of 14 kDa protein-coding 1347504 SSPN sarcospan (Kras oncogene-associated gene) This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq] 1580863 18028944,17311848,16823602,16381901,16344560,15489336,15489334,15375499,15342556,14702039,12477932,11956653,11807778,11470766,11230166,11180757,11076863,10942431,10767327,10651799,8661122,8020969,18830929,9395445,11256614,18981229,19913121,20628086,20935629 8082 NM_001135823,NM_005086,NG_012011,AC022509,CH471094,AF016028,AK092925,AK304667,AK314353,AL136756,BC062299,BP341300,CA419006,DA073350,DQ897666,EU433933,X89105 NP_001129295,NP_005077,EAW96532,AAC61660,BAG52629,BAG65442,BAG36988,CAB66690,AAH62299,ABI78937,ACA09756,CAA61479,Q14714,CAL37553,CAL37592 Hs.183428 DAGA5|KRAG|NSPN|SPN1|SPN2|nanospan K-ras oncogene-associated protein|Kirsten-ras associated|kirsten-ras-associated protein|microspan|sarcospan protein-coding 1604386 SSPO SCO-spondin homolog (Bos taurus) 19913121,20628086,16713569,18046595,17126404,15790807,15053980,14702039,14692680,12909363,12477932,11008217,9628581,8743952,12421765 23145 NM_198455,AC004877,AB111888,AK093431,AK123170,AK124542,AK127639,AY927596,AY927597,AY927598,BN000852 NP_940857,BAC98376,BAC04161,CAJ43920,A2VEC9,Q6ZUU1,Q8N9X4 Hs.632022 FLJ36112|FLJ45737|KIAA2036|SCO-spondin SCO-spondin protein-coding 1322158 SSR1 signal sequence receptor, alpha The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. [provided by RefSeq] 1580863 14702039,14574404,12754519,12477932,10471800,9373149,8707840,8125298,15489334,7916687,1557127,8050590,10437777,17081983,16303743,16169070,1964414,18029348,9631292 6745 NM_003144,AL139095,CH471087,AF156965,AJ420492,AK024294,AK025753,AK026687,AK075562,AK222762,AK222809,AK291550,AK312653,BC007710,BT007387,CA424805,CR456961,CR591675,CR599599,CR610481,CR936719,DC384883,Z12830 NP_003135,CAI16444,EAW55202,EAW55203,EAW55204,AAD48778,BAC11701,BAD96482,BAD96529,BAF84239,BAG35536,AAH07710,AAP36051,CAG33242,CAA78290,P43307,ABM83677,ABW03544 Hs.114033 DKFZp781N23103|FLJ14232|FLJ22100|FLJ23034|FLJ78242|FLJ93042|TRAPA OTTHUMP00000213998|OTTHUMP00000213999|OTTHUMP00000214000|OTTHUMP00000214001|OTTHUMP00000214008|SSR alpha subunit|SSR-alpha|TRAP alpha|TRAP-alpha|signal sequence receptor subunit alpha|translocon-associated protein alpha subunit|translocon-associated protein subunit alpha protein-coding 4889241 SSR1P1 signal sequence receptor, alpha pseudogene 1 100420476 AL031010,NG_025880 pseudo 4889220 SSR1P2 signal sequence receptor, alpha pseudogene 2 100131189 AL157361,NG_021969 pseudo 1318091 SSR2 signal sequence receptor, beta (translocon-associated protein beta) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq] 1580863 7789174,18293417,16710414,15489334,15342556,14702039,12754519,12477932,10471800,9373149,8286409,8125298,7916687,3021779,20379614,9631292 6746 CR620188,NM_003145,AL355388,CH471121,AK092473,AK222600,AK300678,AK313821,AY251536,BC000341,BP196192,BX649192,CR456973,CR590187,CR590435,CR590829,CR590937,CR592411,CR600571,CR603682,CR609717,CR612070,CR613556,CR614947,CR615739,CR616435,CR617169,CR617337,CR623702,D37991,X74104 NP_003136,CAH72631,CAH72632,EAW53010,EAW53011,BAD96320,BAG62361,BAG36556,AAP20059,AAH00341,CAE46211,CAG33254,BAA07206,CAA52207,P43308,Q6MZE4 Hs.74564 DKFZp686F19123|HSD25|TLAP|TRAP-BETA|TRAPB SSR-beta|signal sequence receptor subunit beta|translocon-associated protein beta|translocon-associated protein subunit beta protein-coding 1349375 SSR3 signal sequence receptor, gamma (translocon-associated protein gamma) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. The protein encoded by this gene is the gamma subunit and is predicted to span the membrane four times. [provided by RefSeq] 1580863 16344560,14667819,17353931,7916687,17081983,15489334,12477932,10471800,19615732,9631292 6747 NM_007107,AC092927,CH471052,AF087907,AF110647,AK304364,AK312935,BC017203,BT006669,CR597465,CR624148,BM997362,DA135338 NP_009038,EAW78730,EAW78731,AAP97205,AAD48587,BAG65204,BAG35777,AAH17203,AAP35315,Q9UNL2,ABM83498,ABM86714 Hs.518346 TRAPG OTTHUMP00000213167|OTTHUMP00000213168|OTTHUMP00000213169|OTTHUMP00000213170|SSR gamma|SSR-gamma|TRAP-complex gamma subunit|TRAP-gamma|signal sequence receptor subunit gamma|translocon-associated protein gamma subunit|translocon-associated protein subunit gamma protein-coding 736749 SSR4 signal sequence receptor, delta (translocon-associated protein delta) SSR4, also called TRAPD, is assumed to be involved in protein secretion. It is located in the Xq28 region, arranged in a compact head-to-head manner with the IDH3G gene. These two genes are driven by a bidirectional promoter located between them, and encode proteins involved in unrelated biochemical pathways located in different compartments of the cell. The nontranscribed intergenic region represents only 133 bp and is embedded in a CpG island. The CpG island functions as a bidirectional promoter to initiate the transcription of both functionally unrelated genes with distinct expression patterns. SSR4 consists of six exons and is approximately 70 kb telomeric to the ALD gene. Although alternative splicing of exon 5 has not been detected in human SSR4, transcript variants missing the region homologous to human exon 5 have been detected in both Xenopus laevis and Mus musculus. [provided by RefSeq] 1302383,1300048,1580863 17353931,7492314,9286695,16381901,15489336,15489334,15057039,14702039,14684739,12477932,11076863,10471800,7916687,9631292 1302383 6748 NM_006280,CH471172,CQ859728,U52111,Z68129,AK057117,AK094395,AK290493,BC003371,BC015362,BC032351,BT007192,CR614376,CR616204,X90583,Z69043 NP_006271,EAW72807,EAW72808,EAW72809,EAW72810,EAW72811,CAH25914,CAA92215,BAF83182,AAH03371,AAP35856,CAA62211,CAA93157,P51571,CAL37918,CAL38393,ABM87812,ABW03671 Hs.409223 TRAPD OTTHUMP00000025956|OTTHUMP00000025958|SSR-delta|TRAP-delta|signal sequence receptor 4|signal sequence receptor subunit delta|translocon-associated protein delta|translocon-associated protein subunit delta protein-coding 734366 SSRP1 structure specific recognition protein 1 The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq] 1580863 19214185,20562859,1372440,15231747,18029348,12676794,17209051,17081983,16730941,16713563,16498457,15659405,15635413,15592455,15561718,15489334,15302935,15009096,14660563,14559993,12934006,12477932,12393879,12374749,12101123,11824977,11344167,11239457,10912001,10421373,10336466,10199952,9836642,9566881,9489704,7594592,2530581,16169070,15616580,17672918,15034300,16902406,19625449,19639603,19710137,19836239,19995907,20085707 6749 NM_003146,AP000781,CH471076,AB209132,BC005116,BC091486,CR601255,CR610078,M86737 NP_003137,EAW73734,EAW73735,BAD92369,AAH05116,AAH91486,AAA58660,Q08945,Q59GH7,ABM84585,ABM86758 Hs.523680 FACT|FACT80|T160 FACT 80 kDa subunit|FACT complex subunit SSRP1|FACTp80|chromatin-specific transcription elongation factor 80 kDa subunit|cisplatin-DNA SSRP|facilitates chromatin remodeling 80 kDa subunit|facilitates chromatin transcription complex 80 kDa subunit|facilitates chromatin transcription complex subunit SSRP1|hSSRP1|high mobility group box|recombination signal sequence recognition protein 1|structure-specific recognition protein 1 protein-coding 1323499 SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. 1580863 15489334,12477932,11591653,9486406,17353931,16189514,19574837,20881960 10534 NM_006396,AP001362,CH471076,AB001740,BC014791 NP_006387,EAW74406,EAW74407,EAW74408,BAA25263,AAH14791,O60232,ABM82708,ABM85892 Hs.654840 p27 Sjoegren syndrome/scleroderma autoantigen 1|Sjogren's syndrome/scleroderma autoantigen 1|autoantigen p27|centromeric autoantigen (27kD) protein-coding 734231 SST somatostatin The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq] 1641809,2303186,2303174,2303191 20602615,20634197,8405411,6145156,8961277,9437026,19423539,19328558,19106227,19086053,18753129,18617261,18567806,18473402,18310290,18196269,17987251,17704349,17327350,17130427,16952549,16804989,16764985,16736556,16606630,16456666,16284732,16214911,16211223,16043736,15655830,15489334,15472172,15358539,15286801,15266779,14559725,12952361,12902325,12684217,12477932,12174892,11920268,11860030,11823046,11814357,11753230,8612489,19559700,20501436,20055772,7908405,6196780,6142531,6126875,4682131,1346068,1337145,9878821,9886848,8100352,18240029,19607727,19733630,20043075,17229384,18577758,20734064,20800603,20810604,20819778 1641809,2303186,2303174,2303191 6750 NM_001048,AC072022,CH471052,J00306,AK312177,BC032625,BM353331,R54287 NP_001039,EAW78145,EAW78146,AAA60566,BAG35110,AAH32625,P61278 Hs.12409 SMST growth hormone release-inhibiting factor|somatostatin|somatostatin-14|somatostatin-28 1643508 BW262_H protein-coding 737191 SSTR1 somatostatin receptor 1 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biological effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. The encoded protein is a member of the superfamily of somatostatin receptors having seven transmembrane segments, and is expressed in highest levels in jejunum and stomach. [provided by RefSeq] 1641809,1580863,2325008 20529830,20634197,20734064,20810604,20819778,1346068,8405411,9886848,19423539,19106227,19086053,19070659,18936524,18823376,18347174,17848636,17533578,16214911,15489334,15247250,12788890,12477932,12474541,12414882,12376335,12359227,12021920,11753241,11527930,11344221,10734105,10713101,9892225,9279525,9205124,9125122,8622562,8449518,7968260,18577758,20739383,18240029,19318729,19330452,20453000 1641809,2325008 6751 HB975862,NM_001049,AL450109,AY322536,CH471078,M81829,AK290868,BC035618,BX248780 CBE74677,NP_001040,AAP84349,EAW65836,AAA58247,BAF83557,AAH35618,CAD66587,P30872,Q86SW9,ABM84254,ABM87643 Hs.248160 SRIF-2 G-protein coupled receptor|SS-1-R|SS1-R|SS1R|somatostatin receptor type 1 protein-coding 1346941 SSTR2 somatostatin receptor 2 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in cerebrum and kidney. [provided by RefSeq] 1580863,1358588,2325002,2325008 19913121,20628086,20634197,20450431,10551867,7914078,1346068,9892014,18029348,19434240,19423539,19389921,19324939,19148511,19106227,19086053,18936524,18852217,18808065,18697876,18695896,18682975,18653781,18617261,18599562,18325993,18292657,18234910,18196892,17848636,17706924,17678886,17603546,17546456,16996150,16954443,16917505,16645635,16606630,16601140,16254490,16214911,16115892,15914528,15754023,15489334,15257106,15231824,15205362,15153427,15118275,14760765,14702039,14695784,14671213,14602773,14576502,14572771,12684217,12675130,12490654,12477932,12474541,12414882,12210479,12030911,12021920,11920268,11839658,11823046,11753241,11527930,11472428,11344221,11264236,11087996,10619399,10373412,9892225,9344495,9305905,9279525,9125122,8449518,8386508,7968260,7673428,20422506,20734064,20810604,20819778,20948194,18240029,19318729,19330452,19575008,19671855,19748526,19759190,19805200,19885591,20228164,20233796,20453000,18577758 1358588,2325002,2325008 6752 CR593522,NM_001050,AB065911,AC097641,AF184174,AY236542,CH471099,L34689,M81830,AK093950,AK290745,AK313866,BC000256,BC009522,BC019610,BC095495,BT019926,HB975866,HH806424,HH806430 P30874,ABM82206,NP_001041,BAC06126,AAF42809,AAF42810,AAO92064,EAW89111,EAW89112,AAC98545,AAA58248,BAF83434,BAG36594,AAH00256,AAH09522,AAH19610,AAH95495,AAV38729,CBE74681,CBX87732,CBX87733 Hs.514451 SRIF-1|SS-2-R|SS2-R|SS2R|somatostatin receptor type 2 protein-coding 1343520 SSTR3 somatostatin receptor 3 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biological effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR3 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in brain and pancreatic islets. SSTR3 is functionally coupled to adenylyl cyclase. [provided by RefSeq] 1580863,2325002,2325008 20602615,20634197,2834384,19423539,19086053,19071123,18936524,18676680,18066572,17683502,17679363,16214911,15489334,15461802,15197339,12477932,12474541,12414882,12376335,12021920,11753241,11472428,11344221,10591208,9295322,9205124,9177396,9125122,8449518,8183236,8097479,1346068,18577758,20629740,8405411,1337145,20570798,8961277,18240029,19170196,19330452,19625176,19692168,20237496,20424473,20734064,20810604 2325002,2325008 6753 HB975872,NM_001051,AY277678,AY322541,CH471095,M96738,Z82188,AK291165,BC042068,BC096829,BF513812,BF515539,CR456585 CBE74687,NP_001042,AAP32288,AAP84354,EAW60148,AAA60592,CAB45263,BAF83854,AAH42068,AAH96829,CAG30471,P32745,Q86YF2,CAK54616,CAK54915 Hs.225995 SS-3-R|SS3-R|SS3R|SSR-28|somatostatin receptor type 3 protein-coding 735550 SSTR4 somatostatin receptor 4 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq] 1580863,2324994,2324996,2325002 20634197,8373420,8244401,1346068,20734064,20810604,9892014,8405411,8100352,19423539,19086053,18936524,18066572,16214911,15489334,12477932,12414882,12210479,12021920,11780052,11753241,11472428,11344221,10768564,10433861,9279525,9205124,9125122,8512564,8483934,8449518,18240029,19330452,19426801,19687471,20233783,20237496,18577758,2834384 2324994,2324996,2325002 6754 NM_001052,AL049651,AY548169,CH471133,D16826,L07833,L14856,BC069063,BC117270,BC117272,HB975876 NP_001043,CAB51953,AAS55648,EAX10168,EAX10169,EAX10170,BAA04106,AAA60565,AAA36623,AAH69063,AAI17271,AAI17273,P31391,CBE74691 Hs.673846 G-protein coupled receptor|SS-4-R|SS4-R|SS4R|somatostatin receptor type 4 protein-coding 736501 SSTR5 somatostatin receptor 5 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biological effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR5 is a member of the superfamily of receptors having seven transmembrane segments. [provided by RefSeq] 1580863,1358589,2325008 19894022,20529830,20634197,2834384,20734064,20810604,20207824,7908405,19423539,19342453,19070659,18936524,18653781,18066572,17159301,16954443,16690617,16216913,16214911,16012170,15914528,15616553,15247250,15118275,14602773,12898583,12414882,12192619,12072395,12021920,11753241,11502816,11157797,10753124,10713101,9892225,9694905,9279525,9205124,9177396,9125122,8449518,8373420,8078491,7607700,6145156,9892014,1346068,18577758,20739383,16344560,18240029,19318729,19330452,19401364,19748526,20150960,20201926,20233783,20398908,20468064 1358589,2325008 6755 AAB31829 HB975880,NM_001053,AC009041,AE006466,AL031713,AY081193,CH471112,D16827,L14865,AK308381,DB202230,DQ448303,DQ448304,DW447547,NG_016744,NM_001172560 CBE74695,NP_001044,AAK61266,AAL88744,EAW85687,BAA04107,AAA20828,AAB31829,P35346,Q541E0,AAI41554,AAI46577,ABE27002,ABE27003,NP_001166031 Hs.728117,Hs.449840 SS-5-R OTTHUMP00000158593|somatostatin receptor subtype 5|somatostatin receptor type 5 2315775 GLUCO145_H protein-coding 1605688 SSU72 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 19615732,18597038,15659578,15125841,14702039,12477932,11483580,11042152,20861839,20818333 29101 NM_014188,AL645728,CH471183,AF161530,AF277178,AF305818,AJ276409,AK001809,AK023110,AK127149,AK297505,AK310067,BC008070,BC018909,CF594026,CR591269 NP_054907,CAI22945,CAI22946,CAI22947,CAI22948,EAW56182,EAW56183,AAF29145,AAK07538,AAK55521,CAC81713,BAA91921,BAB14410,BAG59918,AAH08070,Q5SV18,Q96JR5,Q9NP77,ABM83913,ABM87235 Hs.30026,Hs.657061 FLJ13048|HSPC182|PNAS-120 CTD phosphatase SSU72|RNA polymerase II subunit A C-terminal domain phosphatase SSU72 protein-coding 1354257 SSX1 synovial sarcoma, X breakpoint 1 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are probably responsible for transforming activity. [provided by RefSeq] 1580863 10072425,19212631,19204726,18714179,18267106,16247461,16152617,15772651,15735574,15489334,12696068,12477932,12216073,12037676,12007189,11734557,8825641,8406438,7951320,7655467,7539744,19936258,20198325 6756 NM_005635,NG_012528,AL683817,CH471164,BC001003,BC125151,BC128611,BC133693,BC150487,X86174 NP_005626,CAI41141,EAW59344,AAH01003,AAI25152,AAI28612,AAI33694,AAI50488,CAA60110,Q16384,ABM81899,ABW03372 Hs.434142 CT5.1|MGC150425|MGC5162|SSRC cancer/testis antigen 5.1|cancer/testis antigen family 5, member 1|protein SSX1|sarcoma, synovial, X-chromosome-related 1 protein-coding 2292186 SSX10 synovial sarcoma, X breakpoint 10 15772651 100128582 XM_001714824,AL606490,AL683817 XP_001714876,A6NEJ1 protein-coding 1343303 SSX2 synovial sarcoma, X breakpoint 2 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are probably responsible for transforming activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 16546222,16381901,16152617,15772651,15735574,15596411,15489336,15489334,12477932,12216073,12037676,12007189,11368913,11256614,11076863,10749136,9285793,8840996,8152806,7951320,7655467,7539744,7495284,19337376 6757 BC007343,BC016957,BC069313,BC071827,BC103863,BG104299,S79332,X86175,Z49105,NM_175698,NM_003147,AL450023,AL596242,CH471266,CS017256,CS017258,AF190791,BC002818 AAH02818,AAH07343,AAH16957,AAH69313,AAH71827,AAI03864,AAB35379,CAA60111,O75101,Q16385,Q8WWZ9,Q9NZK4,CAL38677,ABZ92236,NP_783629,NP_003138,CAI41151,CAI41152,CAI41157,CAI41158,CAD18884,EAW55861,EAW55862,EAW55863,CAI54191,CAI54192,AAF44724 Hs.289105,Hs.661107 CT5.2a|HD21|HOM-MEL-40|MGC119055|MGC15364|MGC3884|SSX|SSX2B CT5.2|cancer/testis antigen 5.2|cancer/testis antigen family 5, member 2a|protein SSX2|sarcoma, synovial, X-chromosome-related 2|synovial sarcoma, X breakpoint 2, isoform b|synovial sarcoma, X breakpoint 2B|tumor antigen HOM-MEL-40 protein-coding 1626582 SSX2B synovial sarcoma, X breakpoint 2B 12007189,7539744,7951320,15772651,15489334,10749136,7655467,7495284,16712791,11256614 727837 NM_001164417,AL445236,AL450023,CB158955 NP_001157889,Q16385 Hs.289105 CT5.2b|SSX2 CT5.2|HOM-MEL-40|OTTHUMP00000023323|SSX|cancer/testis antigen 5.2|cancer/testis antigen family 5, member 2b|protein SSX2|synovial sarcoma, X breakpoint 2|tumor antigen HOM-MEL-40 protein-coding 736522 SSX2IP synovial sarcoma, X breakpoint 2 interacting protein 12007189,11256614,18028484,16565220,16381901,16112646,15489336,15489334,14702039,12477932,12446711,11076863,10231032,11230166,17686061,17904521,19179477,19615732 117178 NM_014021,AC114482,CH471097,AB023140,AK001710,AK021515,AK023097,AK093173,AK292475,AK294057,AK307336,AK316472,AL133046,AY367055,AY651262,BC033637,BC035580,BC064389,CR611558,CR613292,NM_001166293,NM_001166294,NM_001166295,NM_001166417 NP_054740,EAW73223,EAW73224,EAW73225,EAW73226,EAW73227,EAW73228,BAA76767,BAG50966,BAG52668,BAF85164,BAG57404,CAB61373,AAQ72373,AAH33637,AAH64389,Q9Y2D8,CAL38518,ABM82062,ABM85241,BAH14843,NP_001159765,NP_001159766,NP_001159767,NP_001159889 Hs.22587 ADIP|FLJ10848|KIAA0923|MGC75026 SSX2-interacting protein|afadin DIL domain-interacting protein|afadin- and alpha-actinin-binding protein protein-coding 1345829 SSX3 synovial sarcoma, X breakpoint 3 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 15772651,15489334,12477932,12216073,12007189,9378559,8697803 10214 NM_021014,NM_175711,NG_012561,AL606490,CH471164,AK310348,AK310513,BC005904,BC103862,S82471,U90840 NP_066294,NP_783642,CAI40267,CAI40268,CAI40269,EAW59347,EAW59348,EAW59349,AAH05904,AAI03863,AAB37436,AAC05819,Q5JQZ4,Q99909,Q9BRW7 Hs.558445 CT5.3|MGC119054|MGC14495 cancer/testis antigen 5.3|protein SSX3|synovial sarcoma, X breakpoint 3, isoform a protein-coding 1347099 SSX4 synovial sarcoma, X breakpoint 4 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 10359553,9378559,16189514,15814740,15772651,15489334,12477932,12216073,12037676,12007189,11433527,11368913,11179834,11107170 6759 NM_005636,NM_175729,NG_005575,AL606490,AX740218,BC005325,BC103864,BC137394,BC137395,U90841 NP_005627,NP_783856,CAI40273,CAD90570,AAH05325,AAI03865,AAI37395,AAI37396,AAC05820,O60224,Q3SYD4,ABZ92238 Hs.558402,Hs.648298 CT5.4|MGC119056|MGC12411|SSX4B cancer/testis antigen 5.4|protein SSX4 protein-coding 1604130 SSX4B synovial sarcoma, X breakpoint 4B The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4B, represents the more centromeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 15814740,15772651,15489334,12477932,12216073,11368913,11179834,11107170,10359553,9378559,16189514 548313 NM_001040612,NM_001034832,NG_005575,AF196972,AL606490,BC137394,BC137395,AX740218,BC005325,BC103864,U90841 NP_001035702,NP_001030004,CAI40260,AAI37395,AAI37396,O60224,AAI48552,AAI53139,AAC05820,AAH05325,AAI03865,CAD90570 Hs.558402,Hs.648298 CT5.4|MGC169015|MGC169016|SSX4 CT5.4|OTTHUMT00000056510|cancer/testis antigen 5.4|protein SSX4 protein-coding 1606578 SSX5 synovial sarcoma, X breakpoint 5 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 16546222,15772651,15489334,12477932,12216073,12007189,11179834,11107170,9378559,20211142 6758 NM_175723,NM_021015,NG_012529,AL356464,AL683817,CH471164,BC016640,U90842 NP_783729,NP_066295,CAI40523,CAI40524,CAI41130,CAI41133,CAI41134,EAW59342,EAW59343,AAH16640,AAC05821,O60225,ABZ92237,ADR82771 Hs.166198 MGC9494 OTTHUMP00000023240|protein SSX5 protein-coding 1353514 SSX6 synovial sarcoma, X breakpoint 6 (pseudogene) This gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene is classified as a pseudogene because a splice donor in the 3' UTR has changed compared to other family members, rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD). [provided by RefSeq] 1580863 17117414,15772651,12477932,12216073,11107170 280657 NR_028366,AL356464,AL356797,CH471164,Z98304,BK000686 CAI40525,EAW59339,EAW59340,CAC41947,CAI42940,DAA00373,Q7RTT6,Q96QI0,AAI48533,AAI53126 SSXP2|dJ54B20.1|psiSSX2 pseudo 1344094 SSX7 synovial sarcoma, X breakpoint 7 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq] 1580863 15772651,12216073,11179834 280658 NM_173358,AL450023,CH471266,BK000687 NP_775494,CAI41147,EAW55864,EAW55865,DAA00374,Q7RTT5,AAI40463 Hs.558712 protein SSX7 protein-coding 1348093 SSX8 synovial sarcoma, X breakpoint 8 1580863 15772651,12216073 280659 NR_027250,AL450023,CH471266,AK302291,BK000688 EAW55866,EAW55867,EAW55868,BAG63631,DAA00375,Q7RTT4 Hs.694472 pseudo 1350884 SSX9 synovial sarcoma, X breakpoint 9 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq] 1580863 16344560,15772651,12477932,12216073 280660 AL606490,CH471164,BK000689,DB029485,NG_016812 CAI40264,EAW59346,DAA00376,Q7RTT3,AAI60077 Hs.553667 pseudo 2311157 SSXP1 SSX family pseudogene 1 12216073 326336 NG_002577,AL450023 psiSSX1 pseudo 3102876 SSXP10 SSX family pseudogene 10 12216073 100287603 NG_022942,Z99496 psiSSX10 pseudo 2311154 SSXP3 SSX family pseudogene 3 12216073 326341 NG_002580,AL356464 psiSSX3 pseudo 2311156 SSXP4 SSX family pseudogene 4 12216073 326337 NG_002578,AL450023 psiSSX4 pseudo 2311155 SSXP5 SSX family pseudogene 5 12216073 326339 NG_002579,AL450023 psiSSX5 pseudo 2799014 SSXP6 SSX family pseudogene 6 12216073 326587 AF196972,NG_002585 psiSSX6 pseudo 2799012 SSXP7 SSX family pseudogene 7 12216073 326590 AF196972,NG_002587 psiSSX7 pseudo 2799015 SSXP8 SSX family pseudogene 8 12216073 326585 AL606490,NG_002583 psiSSX8 pseudo 2799013 SSXP9 SSX family pseudogene 9 12216073 326586 AL606490,NG_002584 psiSSX9 pseudo 1343405 ST11 suppression of tumorigenicity 11 (pancreas) 9218518 8466 733794 ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that is a candidate tumor suppressor gene. [provided by RefSeq] 1580863,2326084 20534503,8721986,17535810,17081983,17013759,16807684,16358374,15845543,15664198,15637739,15489334,15461802,15231748,15071092,12477932,11751889,11687574,11559757,10781595,10702249,10591208,10508479,9925927,9857057,9594214,9452498,9387309,9292708,8887650,16169070,15174051,17324930,20193743,20512919,20936779 2326084 6767 NM_003932,CH471095,Z98048,AF116650,AK130770,AK303530,AK312399,AK316155,AY513286,AY826824,AY826825,BC015317,BC052982,BC071629,BC101206,BC101207,BC101208,BC107148,BC121107,BC121108,BC139724,BG706239,CR456586,CR592284,CR592764,CR593758,CR594833,CR596395,CR606507,CR607174,CR607448,CR607785,CR608217,CR610981,CR612386,CR615156,CR617206,CR617748,CR623583,CR625864,U17714,U28918 AAB38382,NP_003923,EAW60394,EAW60395,EAW60396,CAB10844,AAF71070,BAG64558,BAH14526,AAT08039,AAX18644,AAX18645,AAH15317,AAH52982,AAH71629,AAI07149,AAI21108,AAI21109,AAI39725,CAG30472,AAC97526,P50502,Q0IJ56,Q1XBU6,Q1XBU7,Q2TU77,Q3KNR6,Q9P1I4,CAK54617,CAK54916 Hs.712713 AAG2|FAM10A1|FAM10A4|FLJ27260|HIP|HOP|HSPABP|HSPABP1|MGC129952|P48|PRO0786|SNC6 Hsp70-interacting protein|aging-associated protein 2|heat shock 70kD protein binding protein|hsc70-interacting protein|progesterone receptor-associated p48 protein|putative tumor suppressor ST13|renal carcinoma antigen NY-REN-33|suppression of tumorigenicity 13 (colon carcinoma) hsp70-interacting protein|suppression of tumorigenicity 13 protein protein-coding 1348550 ST13P suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18849991,18849994 170553 NG_001058,AL049737 FAM10A2|FAM10A2P|dJ828K20.1 pseudo 4140029 ST13P1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1 729992 AC013471,NG_021556 pseudo 4140313 ST13P10 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10 399950 AP002884,NG_021804 pseudo 4140167 ST13P11 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11 728162 AP002383,NG_021831 pseudo 4139968 ST13P12 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12 100127911 AC027338,NG_021887 pseudo 4140077 ST13P13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13 401648 AL360001,NG_022189 pseudo 4140336 ST13P14 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14 100422602 AC131013,NG_025579 pseudo 4140337 ST13P15 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15 100422603 AC073358,NG_025637 pseudo 4140335 ST13P16 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16 100422605 AL049697,NG_025845 pseudo 4140166 ST13P17 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17 442730 AC005531,CH236950,NG_022574 pseudo 4140328 ST13P18 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18 643310 AL589877,NG_022623 pseudo 4139977 ST13P19 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19 100131961 AL035414,NG_022751 pseudo 4139969 ST13P2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2 344328 AC093377,NG_021594 pseudo 4140052 ST13P20 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20 729828 AL358939,NG_022788 pseudo 4140362 ST13P21 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21 642818 AL392088,NG_022797 pseudo 4140068 ST13P8 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8 338805 AC084033,AC090643,NG_021690 pseudo 4139978 ST13P9 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9 390301 AC016956,NG_021711 pseudo 733374 ST14 suppression of tumorigenicity 14 (colon carcinoma) The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq] 1580863,2315087,2315088,2315089,2315090,2315092,2315093,2315091 20601429,20716618,20696767,10373424,10831593,19443387,19242518,18843291,18813126,18723439,18713750,18649738,18649735,18550704,18514224,18274158,18263585,17981575,17981566,17978729,17940283,17456594,17389401,17344310,17273967,17228523,17131055,16820046,16794252,16501837,16407223,16353247,16341674,16273651,16237759,16103220,16007225,15611789,15489334,15200890,15075215,14747469,14584072,12738778,12498394,12477932,12372819,11864986,11792696,11290548,11125283,10962009,10500122,10373425,9925927,16439987,19535514,19546220,19578749,19940125,20015050,20142489,20145119,20379614 2315087,2315088,2315089,2315090,2315092,2315093,2315091 6768 NM_021978,NG_012132,AF283256,AP001183,CH471065,AB030036,AF057145,AF118224,AF133086,AK302454,AK314173,BC005826,BC018146,BC030532,BM791311,BQ059215,CR594334,CR620300 NP_068813,AAG13949,EAW67776,BAB20376,AAG15395,AAD42765,AAF00109,BAG63749,BAG36856,AAH05826,AAH18146,AAH30532,Q8WVC1,Q9Y5Y6,ABM82552,ABM85368 Hs.504315 HAI|MT-SP1|MTSP1|PRSS14|SNC19|TADG15|TMPRSS14 membrane-type serine protease 1|prostamin|serine protease 14|serine protease TADG-15|suppression of tumorigenicity 14|suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin)|suppressor of tumorigenicity 14 protein|tumor associated differentially expressed gene 15 protein|tumor-associated differentially-expressed gene 15 protein protein-coding 736954 ST18 suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1580863 18676404,16344560,15489893,15489334,12477932,12107411,9628581,20379614 9705 NM_014682,AC021915,AC103831,CH471068,AB011107,AK311188,BC031075,BC117147,BC117149,BC143871,BC143872,BC143873,BC143875,BQ639545,DA288225 NP_055497,EAW86715,EAW86716,EAW86717,BAA25461,AAI17148,AAI17150,O60284 Hs.655499 KIAA0535|ZNF387 neural zinc finger factor 3|suppression of tumorigenicity 18 protein|zinc finger protein 387 protein-coding 1347794 ST2 suppression of tumorigenicity 2 6761 1626538 ST20 suppressor of tumorigenicity 20 11857354,20967262 400410 NM_001100880,NM_001100879,AC015871,CH471136,AF249277,BM559302,BQ680929,AL109714,AA282293,NM_001199757,NR_037652,NR_037653 NP_001094350,NP_001094349,EAW99130,Q9HBF5,NP_001186686,AAG17280 Hs.722219 HCCS-1 cervical cancer suppressor-1|human cervical cancer suppressor gene 1 protein|suppressor of tumorigenicity 20 protein protein-coding 1342745 ST3 suppression of tumorigenicity 3 6762 1603709 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq] 20534593,2649653,10504389,18519826,18180429,18163389,17947642,17101770,16053379,15489334,15146197,14722111,14702039,12477932,11690653,8027041,7655169,2829950,2542563,2541446,2187500,19811634,20200978,20379614 6482 FB715176,NM_003033,NM_173344,AC103706,AF186191,CH471060,AF059321,AK093867,AK311319,AL709325,AL833743,BC018357,BC048803,BC063665,BX537506,BX648001,CN359425,CR604109,L13972,L29555 CAS91688,NP_003024,NP_775479,EAW92172,EAW92173,EAW92174,AAC17874,AAH18357,AAC37574,AAA36612,Q11201,ABM82082,ABM85261 Hs.374257 DKFZp666E036|DKFZp779K2051|FLJ36548|Gal-NAc6S|MGC9183|SIAT4A|SIATFL|ST3GalA|ST3GalA.1|ST3GalIA|ST3GalIA,1|ST3O CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1|Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase|SIAT4-A|ST3GalI|alpha 2,3-ST 1|beta-galactoside alpha-2,3-sialyltransferase 1|sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)|sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase)|sialyltransferase 4A (beta-galactoside alpha-2,3-sialytransferase) protein-coding 1348054 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq] 9266697,15489334,14702039,12716912,12504121,12477932,8920913,7655169,2829950,2649653,2542563,2541446,2187500,16169070,18029348 6483 NM_006927,AC012184,CH471241,AF086257,AI933719,AK127322,AK313020,BC036777,BC064480,BI832366,U63090,X96667,FB715178 NP_008858,EAW51818,EAW51819,EAW51820,EAW51821,BAG54481,BAG35855,AAH36777,AAB40389,CAA65447,Q16842,CAS91689 Hs.368611 Gal-NAc6S|SIAT4B|ST3GALII|ST3GalA.2 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2|Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase|SIAT4-B|ST3Gal II|alpha 2,3-ST 2|beta-galactoside alpha-2,3-sialyltransferase 2|beta-galactoside alpha-2,3-sialytransferase|sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase) protein-coding 1603708 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 17207965,12477932,8333853,15489334,15316282,12931020,12815231,12697334,9451034,8027041,2829950,2649653,2542563,2541446,2187500,16169070,19781661,20379614 6487 NM_174964,NM_174965,NM_174968,NM_006279,NM_174966,NM_174967,NM_174971,NM_174969,NM_174970,AL357079,AL451062,AL592548,CH471059,AF425851,AF425852,AF425853,AF425854,NM_174963,AF425855,AF425856,AF425857,AF425858,AF425859,AF425860,AF425861,AF425862,AF425863,AF425864,AF425865,AF425866,AF425867,AF425868,AF425869,AK301829,AK310265,AY051143,AY167992,AY167993,AY167994,AY167995,AY167996,AY167997,AY167998,BC050380,CR613052,L23768,GM603710 ADQ33059,NP_777623,NP_777624,NP_777625,NP_777628,NP_006270,NP_777626,NP_777627,NP_777631,NP_777629,NP_777630,CAI16785,CAI16786,CAI16787,CAI16788,CAI16789,CAI16790,CAI16791,CAI16792,CAI16793,CAI16794,CAI16795,CAI16796,CAH71022,CAH71023,CAH71024,CAH71025,CAH71026,CAH71027,CAH71028,CAH71029,CAH71030,CAH71031,CAH71032,CAH71033,CAI22181,CAI22182,CAI22183,CAI22184,CAI22185,CAI22186,CAI22187,CAI22188,CAI22189,CAI22190,CAI22191,CAI22192,EAX07082,EAX07083,EAX07084,AAO13859,AAO13860,AAO13861,AAO13862,AAO13863,AAO13864,AAO13865,AAO13866,AAO13867,AAO13868,AAO13869,AAO13870,AAO13871,AAO13872,AAO13873,AAO13874,AAO13875,AAO13876,AAO13877,BAG63274,AAL14347,AAO38806,AAO38807,AAO38808,AAO38809,AAO38810,AAO38811,AAO38812,AAH50380,AAA35778,Q11203,Q96L53,CAT03463 Hs.597915 SIAT6|ST3GALII|ST3GalIII|ST3N CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase|Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase|N-acetyllactosaminide alpha-2,3-sialyltransferase|OTTHUMP00000008813|OTTHUMP00000008815|OTTHUMP00000008819|OTTHUMP00000008821|OTTHUMP00000008823|ST3Gal III|alpha 2,3-ST 3|alpha 2,3-sialyltransferase III|alpha-2,3-sialyltransferase II|beta-galactoside alpha-2,3-sialyltransferase 3|gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase|sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase) protein-coding 1353529 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 Synthesis of alpha-2,3-linked sialic acid to Gal(beta-1,3)GalNAc is mediated by at least 3 distinct beta-galactoside alpha-2,3-sialyltransferases (EC 2.4.99.4), including ST3GAL4. In contrast, only a single gene encodes the beta-galactoside alpha-2,6-sialyltransferase (EC 2.4.99.1), ST6GAL1 (MIM 109675) (Chang et al., 1995 [PubMed 7655169]).[supplied by OMIM] 20383541,8557707,17054948,15489334,14702039,12565846,12477932,12459555,12441665,12375029,8611500,8288606,7901202,7655169,7588599,2829950,2649653,2542563,2541446,2187500,16169070,19520807,19781661,20237496,20379614 6484 AP000806,AP001318,CH471065,L29553,AF035249,AF516602,AF516603,AF516604,AF525084,AK021929,AK128605,AK291577,AK314738,NM_006278,BC010645,CR456858,CR595606,CR595607,CR598875,CR602167,CR603316,CR604023,CR605032,CR610249,CR613427,CR614162,CR614499,CR616349,CR616626,CR618526,CR618582,CR620801,CR621052,CR623753,CR624587,L23767,X74570,AY040826,FB715182 BAG37279,Q8N6A6,Q8NFD3,NP_006269,EAW67693,EAW67694,EAW67695,EAW67696,EAW67697,AAC14162,AAM66431,AAM66432,AAM66433,AAM81378,BAB13940,BAF84266,AAK93790,AAH10645,CAG33139,AAA16460,CAA52662,Q11206,Q6IBE6,Q8N6A7,Q8NFG7,Q9HAA9,ACE87320,ACE86638,CAS91691 Hs.591947 CGS23|FLJ11867|FLJ46764|NANTA3|SAT3|SIAT4|SIAT4C|ST3GalIV|STZ CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4|SAT-3|SIAT4-C|ST-4|ST3GalA.2|alpha 2,3-ST 4|alpha 2,3-sialyltransferase IV|alpha-3-N-acetylneuraminyltransferase|beta-galactoside alpha-2,3-sialyltransferase 4|gal-NAc6S|gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase|sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)|sialyltransferase 4C (beta-galactoside alpha-2,3-sialytransferase) protein-coding 1346095 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 9822625,18974200,18480157,16934889,15815621,15502825,15385432,14702039,12975309,12527423,12477932,12393190,11595162,11030748,10619706,10092602,8889548,19415461,19709745,19759399,20219466,20800603,20628624 8869 NM_001042437,NM_003896,NG_012807,AC105053,AF488709,CH471053,AB018356,AF105026,AF119415,AF119417,AF119418,AF161396,AF344831,AK001340,AK127346,AY152815,AY359105,BC009887,BC065936,BI820835,CA503200,CR600904 NP_003887,NP_001035902,AAY24147,EAW99474,EAW99475,EAW99476,EAW99477,EAW99478,EAW99479,EAW99480,BAA33950,AAD14634,AAF66146,AAF28956,BAG50894,AAO16866,AAQ89463,AAH65936,Q9P0A3,Q9UNP4 Hs.415117 SATI|SIAT9|SIATGM3S|ST3GalV CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase|GM3 synthase|OTTHUMP00000160674|ST3Gal V|alpha 2,3-sialyltransferase V|ganglioside GM3 synthase|lactosylceramide alpha-2,3-sialyltransferase|sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) protein-coding 1349452 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 Sialyltransferases, such as ST3GAL6, catalyze the transfer of sialic acid from cytidine 5-prime monophospho-N-acetylneuraminic acid (CMP-NeuAc) to terminal positions of glycoprotein and glycolipid carbohydrate groups. Terminal NeuAc residues are key determinants of carbohydrate structures, such as the sialyl-Lewis X determinants, and are widely distributed in many cell types.[supplied by OMIM] 12477932,19781661,10206952,18485915,15489334,14702039,20532202 10402 NM_006100,AC106728,CH471052,AB022918,AF119391,AK001922,AK315111,BC001266,BC012092,BC023312,CR607538,CR624848,FB715186,HH924881,HI578556 NP_006091,EAW79849,EAW79850,EAW79851,EAW79852,EAW79853,BAA77609,AAD39131,BAG50993,BAG37569,AAH23312,Q9Y274,CAS91693,CBX32761,CBX46694 Hs.148716 SIAT10|ST3GALVI CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI|OTTHUMP00000213913|OTTHUMP00000213917|OTTHUMP00000213926|OTTHUMP00000213930|OTTHUMP00000213932|ST3Gal VI|alpha2,3-sialyltransferase|sialyltransferase 10 (alpha-2,3-sialyltransferase VI)|type 2 lactosamine alpha-2,3-sialyltransferase protein-coding 1350060 ST4 suppression of tumorigenicity 4 (malignant melanoma) 1680551 6763 1319089 ST5 suppression of tumorigenicity 5 This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq] 9632734,17081983,15489334,15231748,11528127,10692462,10229203,8972856,1390339,15778465,12477932,19843505,20379614 6764 S45936,U15131,U15779,U15780,CR611680,NM_005418,NM_139157,NM_213618,AC026894,AC091053,AJ400879,CH471064,AK126554,AK127763,AK293245,AK302824,AK307617,AK309929,AK312305,AK312758,BC036655,BX647431 AAB23647,AAC50925,AAB97097,AAC50926,P78524,Q6ZTJ7,ABM83409,ABM86620,NP_005409,NP_631896,NP_998783,CAC35387,EAW68617,EAW68618,BAC86590,BAG54568,BAG56779,BAG64021,BAG35624,AAH36655 Hs.117715 DENND2B|HTS1|MGC33090|p126 DENN domain-containing protein 2B|DENN/MADD domain containing 2B|heLa tumor suppression 1|suppression of tumorigenicity 5 protein protein-coding 1601776 ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Three transcript variants encoding two different isoforms have been described. [provided by RefSeq] 1730763,7786324,19413643,19170967,19150807,19013288,18650447,17897958,17697868,16319516,16192407,16053379,15489334,14702039,14514712,12943659,12931020,12878221,12798701,12692561,12499376,12477932,11356854,11320056,10460832,9110174,8995311,8953271,8920923,8724135,8702538,8619474,8477718,8144653,7768954,7615680,2803295,2408023,2373995,20656882,17207965,16344560,17441333,19483685,19709745,20003255,20127017,20379614 6480 NM_173217,NM_003032,AC007488,AC007690,CH471052,AF007133,AK128726,AK292879,AK312023,BC031476,BC040009,CR594116,CR619308,NM_173216,L11720,X17247,X54363,X62822,A17362,A23699,FB715160,DB152155,DB235666 NP_775323,NP_775324,NP_003023,EAW78158,EAW78159,EAW78160,EAW78161,EAW78162,EAW78163,EAW78164,BAF85568,BAG34960,AAH31476,AAH40009,CAA35111,CAA38246,CAA44634,P15907,CAA01327,CAA01686,CAS91678,ADQ31971 Hs.207459 MGC48859|SIAT1|ST6GalI|ST6N B-cell antigen CD75|CMP-N-acetylneuraminate beta-galactosamide alpha-2,6-sialyltransferase|CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1|OTTHUMP00000210002|OTTHUMP00000210004|OTTHUMP00000210015|ST6Gal I|alpha 2,6-ST 1|beta-galactoside alpha-2,6-sialyltransferase 1|sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase) protein-coding 1348221 ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 Sialyltransferases, such as ST6GAL2 (EC 2.4.99.1), are type II transmembrane proteins that catalyze the transfer of sialic acid from CMP-sialic acid to an acceptor carbohydrate, usually to the terminal ends of carbohydrate chains.[supplied by OMIM] 12235148,19240061,16344560,15146197,14702039,12603328,12477932,11347906,19768537,19850283,20379614,20800603 84620 NM_032528,NM_001142351,NM_001142352,AC005040,AC016994,AC108049,CH471127,AB058780,AB059555,AJ512141,AK055273,AK095049,AK095653,AK307784,BC008680,BQ016989,CN365495,DA176100,FB715162 NP_115917,NP_001135823,NP_001135824,AAY15022,EAX01742,EAX01743,BAB47506,BAC24793,CAD54408,AAH08680,Q96JF0,CAS91680 Hs.98265 FLJ30711|FLJ37730|FLJ38334|KIAA1877|SIAT2|ST6GalII CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 2|ST6Gal II|alpha 2,6-ST 2|beta-galactoside alpha-2,6-sialyltransferase 2|beta-galactoside alpha-2,6-sialyltransferase II|hST6Gal II|sialyltransferase 2 (monosialoganglioside sialyltransferase) protein-coding 1349171 ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM] 17081983,16344560,16319059,12975309,12820722,12770770,12477932,10207017,10536037,19287074,20378551,20379614 55808 NM_018414,AC005837,CH471099,Y11340,AK000113,AK310906,AY096001,AY358918,BC022462,BC063830,DA594489,Y11339,FB715164 NP_060884,EAW89419,EAW89420,EAW89421,EAW89422,EAW89423,CAA72180,BAA90953,AAM22800,AAQ89277,AAH22462,CAA72179,Q8TBJ6,Q9NSC7,Q9NXQ7,CAS91682 Hs.105352 HSY11339|SIAT7A|ST6GalNAcI|STYI GalNAc alpha-2, 6-sialyltransferase I, long form|SIAT7-A|ST6GalNAc I|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1|galNAc alpha-2,6-sialyltransferase I|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A|sialyltransferase 7A protein-coding 1343813 ST6GALNAC2 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM] 12477932,10742600,9373149,8125298,19357720,19170967,17480010,17418236,15489334,15231748,14702039 10610 NM_006456,AC015802,CH471099,AJ251053,AK127567,AK225943,BC038114,BC040455,BC044607,BT019972,U14550 NP_006447,EAW89416,EAW89417,EAW89418,CAB61434,AAH40455,AAV38775,AAA52228,Q9UJ37 Hs.592105 FLJ45660|SAITL1|SIAT7|SIAT7B|SIATL1|ST6GalNAII|STHM (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B|(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase|SIAT7-B|ST6GalNAc II|ST6GalNAcII|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2|galNAc alpha-2,6-sialyltransferase II|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) B|sialyltransferase 7B|sialyltransferase-like 1 protein-coding 1345799 ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM] 10207017,17207965,18519826,17123352,16344560,16169874,15843597,14702039,12975309,12477932,19684603,20379614,20421487 256435 NM_001160011,AC092813,AC098655,AC103592,AC104458,AL596217,CH471059,AJ507291,AK023731,AK091215,AK130749,AK297363,AY358540,BC039520,NM_152996,BC059363,BX648274,DA800675,DB473741 ADQ32981,NP_694541,NP_001153483,EAX06388,EAX06389,CAD45371,BAC03611,BAG59810,AAQ88904,AAH59363,Q8NDV1 Hs.337040,Hs.677241,Hs.679096 FLJ13669|FLJ27239|PRO7177|SIAT7C|ST6GALNACIII|STY GalNAc alpha-2,6-sialyltransferase III|SIAT7-C|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltran|ST6GALNAC III|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase III|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C|sialyltransferase 7C protein-coding 1350452 ST6GALNAC4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16712791,10207017,18598683,17081983,15528990,15489334,14702039,12594047,12477932,12459555,11062056,10369878,8681137,18029348 27090 NM_175039,AF162789,AL157935,CH471090,Y17460,Y17461,AB035172,AF127142,AJ271734,AK000600,AK292049,BC036705,CB126299,F27902,NM_175040,FB715170 NP_778205,NP_778204,AAF32237,CAI12613,EAW87717,EAW87718,EAW87719,EAW87720,EAW87721,CAB44353,CAB44354,BAA87034,AAF00102,CAC07404,BAA91281,BAF84738,AAH36705,Q9H4F1,CAS91685 Hs.3972,Hs.709827 SIAT3C|SIAT7D|ST6GALNACIV NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferase|NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase IV|OTTHUMP00000197015|SIAT3-C|SIAT7-D|ST6GalNAc IV|alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase|sialyltransferase 3C|sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) protein-coding 1352256 ST6GALNAC5 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ST6GALNAC5 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM] 15843597,15489334,14702039,12668675,12477932,10601645,10521438,20379614 81849 NM_030965,AC096951,AC099060,AL035409,AL954680,BX284687,CH471059,AJ507292,AK056241,AK095758,BC001201,CR610298,AK295019,AK300902,FB715172 NP_112227,CAM28274,EAX06386,CAD45372,BAB71127,BAG53123,AAH01201,Q9BVH7,BAG58078,BAG62539,CAS91686 Hs.303609 MGC3184|SIAT7E|ST6GalNAcV GD1 alpha synthase|GalNAc alpha-2,6-sialyltransferase V|SIAT7-E|ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5|ST6GalNAc V|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase V|alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase E|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E|sialyltransferase 7 (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E|sialyltransferase 7E protein-coding 1354318 ST6GALNAC6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM] 10702226,17123352,16713569,15843597,14702039,12975309,12668675,12477932 30815 AL157935,NM_013443,CH471090,AB035173,AJ507293,AK023900,AK025959,AK057100,AK226174,AK300534,AK310850,AY358672,BC006564,BC016299,BC036102,CR457318,CR592171,CR599905,BC007802,FB715174 CAI12609,CAI12610,CAI12611,CAI12612,NP_038471,EAW87710,EAW87711,EAW87712,EAW87713,EAW87714,EAW87715,BAA87035,CAD45373,BAB14715,BAG51863,BAG62242,AAQ89035,AAH06564,AAH07802,AAH16299,CAG33599,Q969X2,CAS91687 Hs.109672 RP11-203J24.3|SIAT7F|ST6GALNACVI CMP-NeuAC:(beta)-N-acetylgalactosaminide (alpha)2,6-sialyltransferase member VI|OTTHUMP00000022210|OTTHUMP00000022211|SIAT7-F|ST6GalNAc VI|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6|galNAc alpha-2,6-sialyltransferase VI|hST6GalNAc VI|sialyltransferase 7F|sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F protein-coding 1343912 ST7 suppression of tumorigenicity 7 The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq] 1580863 19058789,16683024,14702039,14669308,14534688,12853948,12809483,12690205,12545169,12477932,12231539,12213198,10889047,10889044,8938430,8105370,7991599,7987830,7624150,12107844,11279520,19913121,20628086,19736351,20379614 7982 NM_021908,AC002542,AC003987,AC106873,AF234886,CH236947,CH471070,NM_018412,AF234882,AF234883,AF415174,AJ277291,AK093212,AK292372,AK297510,AK297861,AK298540,AY009152,AY009153,BC030954,BC075855,CR590239,CR936656 NP_060882,NP_068708,AAS07414,AAS07415,AAS02042,AAS07529,AAF85949,EAL24356,EAL24357,EAW83516,EAW83517,EAW83518,EAW83519,EAW83520,EAW83521,AAF85945,AAF85946,AAL85662,CAB86869,BAC04097,BAF85061,BAH12597,BAH12679,BAH12809,AAG37720,AAG37721,AAH30954,AAH75855,CAI56794,Q75MZ7,Q9NRC0,Q9NRC1,ABM83573,ABM86812 Hs.368131 DKFZp762O2113|ETS7q|FAM4A|FAM4A1|HELG|RAY1|SEN4|TSG7 OTTHUMP00000068957|OTTHUMP00000068959|OTTHUMP00000068963|OTTHUMP00000068964|OTTHUMP00000198300|OTTHUMP00000198301|OTTHUMP00000206921|OTTHUMP00000212190|family with sequence similarity 4, subfamily A, member 1|suppression of tumorigenicity 7 (breast)|suppressor of tumorigenicity 7 protein protein-coding 1342887 ST7L suppression of tumorigenicity 7 like This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. The function of this gene has not yet been determined. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq] 1580863 14702039,12477932,12063568,12012006,9373149,8125298 54879 CH471122,AB081317,AB081318,AB081319,AB081320,AK000291,AK021719,AK095837,AK097837,AK225307,AK291042,AK295507,AK295955,AK301869,AK304004,AK308727,BC027898,BC037830,BC047392,BC065501,BX537988,BX538338,BX640667,CD358134,CR600185,NM_138728,NM_017744,NM_138727,NM_138729,AL109932,AL929470 CAI16526,CAI16527,EAW56520,EAW56521,EAW56522,EAW56523,EAW56524,BAB88871,BAB88872,BAB88873,BAB88874,BAA91060,BAG53142,BAC05180,BAF83731,BAH12090,BAH12228,BAH13570,CAI16524,BAH14092,AAH37830,AAH47392,AAH65501,CAD97948,CAD98103,CAE45803,Q8TDW4,ACE87259,ACE86576,NP_620056,NP_060214,NP_620055,NP_620057,CAI22699,CAI22700,CAI22701,CAI22702,CAI22704,CAI22705,CAI22707,CAI22708,CAI16521,CAI16522,CAI16523 Hs.201921 FAM4B|FLJ11657|FLJ20284|ST7R|STLR OTTHUMP00000013496|OTTHUMP00000013497|ST7-related protein|suppressor of tumorigenicity 7 protein-like|tumor suppressor ST7 like protein-coding 1349937 ST7OT1 ST7 overlapping transcript 1 (non-protein coding) 12213198 93653 NR_002330,AC106873,CH236947,AF400039,CR598120,CR607710 Hs.597516 ST7AS1 miscrna 1353207 ST7OT2 ST7 overlapping transcript 2 (non-protein coding) 12213198 93654 NR_002331,AC002542,CH236947,AF400040,AF400041,AF400042,AF400043,AF400045 Hs.571240,Hs.628891 ST7AS2 miscrna 1606986 ST7OT3 ST7 overlapping transcript 3 (non-protein coding) 12213198,10889047,10889044 93655 AC002542,CH236947,AF400044,NR_002332 Hs.368131 NCRNA00026 miscrna 1346581 ST7OT4 ST7 overlapping transcript 4 (non-protein coding) 12477932,12213198 338069 NR_002329,AC106873,CH236947,BC043268 Hs.662742 NCRNA00042 miscrna 1349426 ST8 suppression of tumorigenicity 8 (ovarian) 1394208 6765 1603707 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. [provided by RefSeq] 20708005,8195250,19428123,19335207,19280063,18690648,18612409,18348864,18261989,17913261,16862187,16481330,16120058,15489334,15319364,15196944,15175338,12818424,12477932,11849746,10766765,9287216,8889548,8786103,8631981,8058740,7937974,7901202,19125296,19956670,20379614 6489 NM_003034,AC007544,AC007671,AC087318,CH471094,AF088002,AK290941,AK297310,AK315340,AY569975,BC031081,BC046158,BC117285,BC126162,BM929838,D26360,EU041716,L32867,L43494,X77922,FB715190 ADR82955,NP_003025,EAW96468,EAW96469,EAW96470,EAW96471,BAF83630,BAG59776,BAG37739,AAS75783,AAH46158,AAI17286,AAI26163,BAA05391,ABU62753,AAA62366,AAC37586,CAA54891,Q6PZN5,Q86X71,Q92185,CAS91695 Hs.408614 GD3S|SIAT8|SIAT8A|ST8SiaI SIAT8-A|alpha-2,8-sialyltransferase 8A|alpha-N-acetylneuraminide alpha-2,8-sialyltransferase|disialoganglioside (GD3) synthase|ganglioside GD3 synthase|ganglioside GT3 synthase|ganglioside-specific alpha-2,8-polysialyltransferase|sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A|sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase)|sialytransferase St8Sia I protein-coding 1351358 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq] 20386566,10766765,7559389,9054414,19336400,17126533,16229822,15710344,15489334,12975309,12477932,12138100,11744634,9852130,8702635,8027041,7588599,15466855,20663923 8128 NM_006011,AC090985,AC116162,CH471101,AK313924,AW163487,AY358091,BC069584,BC096202,BC096203,BC096204,BC096205,BX537981,L29556,U33551,U82762,FJ515842,FB715192 NP_006002,EAX02149,BAG36645,AAQ88458,AAH69584,AAH96202,AAH96203,AAH96204,AAH96205,AAA36613,AAC24458,AAB51242,Q4VAY9,Q4VAZ2,Q6UY40,Q92186,ACS13735,ACS13736,CAS91696 Hs.302341 HsT19690|MGC116854|MGC116857|SIAT8B|ST8SIA-II|STX SIAT8-B|ST8SiaII|alpha-2,8-sialyltransferase 8B|alpha-2,8-sialyltransferase 8B 1|sialyltransferase 8 (alpha-2, 8-sialytransferase) B|sialyltransferase 8B|sialyltransferase X|sialytransferase St8Sia II protein-coding 1606293 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM] 10766765,9073076,16643848,15489334,14702039,12477932,9826427,20800603 51046 NM_015879,AC090208,CH471096,AB208996,AF003092,AF004668,AK054939,AK123291,AK289517,AK313047,BC074909 NP_056963,EAW63043,BAD92233,AAC15901,AAB87642,BAF82206,BAG35879,AAH74909,O43173,Q59GW3 Hs.23172 SIAT8C|ST8SiaIII SIAT8-C|alpha-2,8-sialyltransferase 8C|alpha-2,8-sialyltransferase III|sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase|sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)|sialytransferase St8Sia III protein-coding 1603321 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 19725832,10766765,9054414,19336400,18384787,17176637,16344560,16229822,16027151,15710344,15489334,12477932,12227654,12138100,11744634,11279095,10660622,9852130,9774483,7854457,7624364,19913121,20628086,19578876,20379614,17207965 7903 NM_005668,NM_175052,AC010411,AC117530,CH471086,AA836260,AK292872,BC027866,BC040671,BC053657,BI858673,BM921020,DA862968,L41680,CS565550,FB715196 NP_005659,NP_778222,EAW49104,EAW49105,BAF85561,AAH27866,AAH53657,AAC41775,Q8N1F4,Q92187,ADQ33222,CAN37586,CAS91698 Hs.308628 MGC34450|MGC61459|PST|PST1|SIAT8D|ST8SIA-IV CMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferase|CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase|SIAT8-D|ST8SiaIV|alpha-2,8-sialyltransferase 8D|polysialyltransferase-1|sialyltransferase 8 (alpha-2, 8-polysialytransferase) D|sialyltransferase 8D|sialytransferase St8Sia IV protein-coding 1349184 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq] 9199191,14702039,12477932,9129712 29906 NM_013305,AC090311,CH471088,AK056270,AK094273,AK130126,AK310764,BC108910,BC108911,BX105571,CR457037,U55966,U91641,AC064800,AK293608,AK298881,FB715198 NP_037437,EAX01482,EAX01483,BAG51661,BAG52854,AAI08911,AAI08912,CAG33318,AAC51727,O15466,BAH11545,BAH12893,CAS91699 Hs.465025 MGC119670|MGC119671|SIAT8E|ST8SiaV SIAT8-E|alpha-2,8-sialyltransferase 8E|sialyltransferase 8E (alpha-2, 8-polysialytransferase)|sialytransferase St8Sia V protein-coding 1605541 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 Sialic acid is a key determinate of oligosaccharide structures involved in cell-cell communication, cell-substrate interaction, adhesion, and protein targeting. ST8SIA6 belongs to a family of sialyltransferases (EC 2.4.99.8) that synthesize sialylglycoconjugates (Takashima et al., 2002 [PubMed 11980897]).[supplied by OMIM] 12477932,19176441,16857734,15843597,15164054,11980897 338596 BC137102,BC137103,BC144472,BX951710,NM_001004470,AL158164,AL160289,EF445032,AB062101,AJ621583,FB715200 AAI37103,AAI37104,P61647,Q1HAZ0,NP_001004470,CAI40658,CAH70722,ACA06074,ACA06075,BAE94653,CAF21722,CAS91700 Hs.677766 SIA8F|SIAT8F|ST8SIA-VI SIAT8-F|ST8SiaVI|alpha-2,8-sialyltransferase 8F|alpha-2,8-sialyltransferase 8F variant 2|alpha-2,8-sialyltransferase 8F variant 3|sialyltransferase 8F (alpha-2, 8-sialyltransferase)|sialytransferase St8Sia VI protein-coding 1321166 STAB1 stabilin 1 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq] 19457577,20599701,20935629,12477932,19726632,19752197,12077138,18029348,19367581,18292525,17006978,16670288,16357325,15572036,15345724,15345716,15297319,14702039,12616502,12473645,12168954,11829752,10737800,9039502,20953554 23166 NM_015136,AC006208,AC112215,CH471055,AB052956,AB052957,AJ275213,AK091600,AK093774,AK097061,AK310105,BC150250,BE242606,BI001474,D87433,DQ786774 NP_055951,EAW65232,EAW65233,EAW65234,BAC15606,BAC15607,CAB61827,BAG52762,AAI50251,BAA13377,ABG91068,Q0PNF2,Q9NY15 Hs.301989 CLEVER-1|FEEL-1|FELE-1|FEX1|KIAA0246|STAB-1 MS-1 antigen|common lymphatic endothelial and vascular endothelial receptor-1|fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1|fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 1|stabilin-1 protein-coding 1349105 STAB2 stabilin 2 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq] 1580863 11829752,12077138,18573870,18539600,18519035,18499864,18434317,18387958,18230608,17962816,17145755,15572036,15208308,14702039,12751488,12626425,12473645,14701874,20466649,18029348,21029358,19359419,20379614 55576 NM_017564,AC025265,AC084364,CH471054,AB052958,AF160476,AJ295695,AK024503,AK074051,AK160380,AL133021,AY227444,AY311388 NP_060034,EAW97711,EAW97712,EAW97713,EAW97714,BAC15608,AAF82398,CAC82105,BAB15793,BAB84877,BAD18723,CAB61358,AAO39681,AAP74958,Q8WWQ8,Q9UF98,AAI72224 Hs.408249 DKFZp434E0321|FEEL-2|FEEL2|FELE-2|FELL|FELL-2|FELL2|FEX2|HARE|STAB-2 CD44-like precursor FELL|FAS1 EGF-like and X-link domain containing adhesion molecule-2|fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-2|hepatic hyaluronan clearance receptor|hyaluronan receptor for endocytosis|hyaluronic acid receptor for endocytosis|stabilin-2 protein-coding 1313960 STAC SH3 and cysteine rich domain 1580863 8954993,14702039,12477932,10393425 6769 NM_003149,AC092051,AC098648,CH471055,AK056893,AK299160,AK302697,AK310425,AK313493,BC020221,CR594767,D86640 NP_003140,EAW64474,BAG61208,BAG63925,BAG36275,AAH20221,BAA13152,Q8WUK8,Q99469,ABM83106,ABM86300,ABM86301 Hs.56045 FLJ32331|STAC1 OTTHUMP00000208661|SH3 and cysteine-rich domain-containing protein|SRC homology 3 and cysteine-rich domain-containing protein|src homology three (SH3) and cysteine rich domain protein-coding 1313639 STAC2 SH3 and cysteine rich domain 2 16713569,15489334,14702039,12477932,16344560 342667 NM_198993,AC004408,AC015910,CH471152,AJ608762,AK131500,BC109231,AM903073,DA292898 NP_945344,EAW60569,EAW60570,CAE75539,BAD18644,AAI09232,Q6ZMT1,CAP17172 Hs.145068 24b2|24b2/STAC2|MGC129694 SH3 and cysteine-rich domain-containing protein 2|SRC homology 3 and cysteine-rich domain-containing protein 2 protein-coding 1319045 STAC3 SH3 and cysteine rich domain 3 737633,1580863 16189514,15489334,14702039,12477932 737633 246329 NM_145064,AC137834,CH471054,AK057013,AK300688,AK311513,BC008069 NP_659501,EAW97004,EAW97005,EAW97006,EAW97007,BAB71343,BAG62371,AAH08069,Q96MF2 Hs.417595 MGC2793 SH3 and cysteine-rich domain-containing protein 3 protein-coding 1321827 STAG1 stromal antigen 1 This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq] 1580863 18029348,15855230,9305759,18550811,16344560,15489334,15361841,12477932,12034751,11590136,11076961,15231748,16682347,19822671,19936222,20308539 10274 NM_005862,AC069514,AC069524,AC107425,AC117382,AC128712,CH471052,AB210023,AK304381,AK309934,AU132652,BC017735,BC040708,BC064699,CR614749,CR749247,Z75330 NP_005853,EAW79114,EAW79115,BAE06105,BAG65219,AAH17735,AAH64699,CAH18103,CAA99731,Q4LE48,Q68DW7,Q6P275,Q8WVM7 Hs.412586 DKFZp781D1416|SA1 SCC3 homolog 1|cohesin subunit SA-1|nuclear protein stromal antigen 1 protein-coding 1343297 STAG2 stromal antigen 2 1580863 15855230,9305759,18029348,17081983,16344560,15772651,15737064,15737063,15489334,15302935,14660624,12477932,12034751,11590136,11076961,8889548,7690594,15917200,16682347,19822671 10735 CH471107,AA428995,AK026678,AK098737,AK298633,AK313559,AL831939,BC001765,BC017095,BX640970,BX641002,BX641003,CB250478,CR593918,CR627425,CR749433,DA214149,DA534452,NM_001042749,NM_001042750,NM_001042751,NM_006603,AL121601,AL355476 CAI40986,CAI40987,CAI40988,CAI40989,CAI40990,CAI40991,EAX11853,EAX11854,EAX11855,EAX11856,EAX11857,BAG60808,BAG36333,CAD38591,AAH01765,CAE45985,CAE46005,CAE46006,CAH10512,CAH18271,Q68DE9,Q6AI02,Q6MZM3,Q6MZM4,Q6MZP3,Q8N3U4,NP_001036214,NP_001036215,NP_001036216,NP_006594,CAI40985 Hs.496710,Hs.624663 DKFZp686P168|DKFZp781H1753|FLJ25871|SA-2|SA2|bA517O1.1 SCC3 homolog 2|cohesin subunit SA-2 protein-coding 737601 STAG3 stromal antigen 3 1580863 10698974,19270026,18788457,18299561,12477932,12034751,20635389,11483963 10734 AC005071,AC073842,CH236956,CH471091,AJ007798,AK292394,AK302587,AK302693,AL833816,BC028684,BC047490,BC140932,BC146806,BG772730,NM_012447 NP_036579,EAW76568,EAW76570,CAB59367,BAF85083,BAG63840,BAG63922,CAD38679,AAI40933,AAI46807,Q9UJ98 Hs.592283 OTTHUMP00000207395|SCC3 homolog 3|cohesin subunit SA-3|stromalin 3|stromalin-3 protein-coding 1604012 STAG3L1 stromal antigen 3-like 1 12477932,9847074 54441 NM_001002840,AC005488,AC006014,AA724158,AK291820,AK316130,AL137492,BC010433,BC030509,BC108680,BC119762,BG394610,NM_018991,BG504898,BG829469,BM311130,BQ675800,CK003548,XR_108835,XR_110704 NP_061864,NP_001002840,AAP22359,BAF84509,BAH14501,AAH30509,AAI08681,AAI19763,Q6NXR2,Q7L1H2,AAI46457,AAI53080 Hs.632310 DKFZp434A0131|MGC131759|MGC40269|STAG3L2|STAG3L3 STAG3-like protein protein-coding 2291785 STAG3L2 stromal antigen 3-like 2 15489334,14702039,12853948,12477932 442582 NM_001025202,AC004166,AK303473,AK307228,AK309007,BC002581,BC119761,BG537494,BI753182,BQ028473 NP_001020373,BAH13970,AAH02581,AAI19762,Q6NXR2 Hs.709564 MGC131759|STAG3L1|STAG3L3 OTTHUMP00000209503|STAG3-like protein protein-coding 1605476 STAG3L3 stromal antigen 3-like 3 17207965,16344560,12477932 442578 NM_001013739,AC005488,AK289466,AK303592,AY313779,BC066937,DA505391,DC395490,DC405605,DC410426 ADQ33010,NP_001013761,BAF82155,BAG64607,AAP81010,AAH66937,Q6NXR2 Hs.661254,Hs.632310 STAG3L1|STAG3L2 OTTHUMP00000211422|OTTHUMP00000211424|STAG3-like protein protein-coding 1603611 STAG3L4 stromal antigen 3-like 4 14702039,12477932,17207965 64940 NM_022906,AC006480,CH471140,AK023257,AK307290,AK308931,BC026058,CR457306,CR620672 NP_075057,AAS07569,EAX07881,BAB14491,AAH26058,CAG33587,Q8TBR4,ADQ32231 Hs.632013 FLJ13195 STAG3-like protein 4|stromal antigen 3-like protein 4 protein-coding 1320313 STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 This gene was identified by the rapid tyrosine-phosphorylation of its product in response to cytokine stimulation. The encoded protein contains a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). This protein associates with JAK3 and JAK2 kinases via its ITAM region, and is phosphorylated by the JAK kinases upon cytokine stimulation, which suggests the function of this protein is as an adaptor molecule involved in the downstream signaling of cytokine receptors. HGS/HRS (hepatocyte grwoth factor-regulated tyrosine kinase substrate) has been found to bind and counteract the function of this protein. [provided by RefSeq] 1580863 16771824,16716190,16735510,16760479,15314065,17711858,8780729,10383417,10567358,12218189,15962011,19111546,19054391,17081983,16964243,16730941,16520378,16344560,15951569,15828871,15640163,15489334,15231748,15113837,14702039,12972556,12745081,12551915,12477932,11687594,10993906,10982817,10899310,9407053,9133424,16189514,16385451,17078930 8027 GN344117,NM_003473,AC069542,CH471072,AK024383,AK303083,AK314405,AU118708,BC030586,BX647982,U43899,EF445033 CAY55994,NP_003464,EAW86207,EAW86208,EAW86209,BAG64194,BAG37028,AAH30586,AAC50734,Q92783,ACA06077,ACA06078 Hs.441498 DKFZp686J2352|STAM1 HSE1 homolog|STAM-1|signal transducing adapter molecule 1 protein-coding 1322986 STAM2 signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq] 1580863 20504764,16189514,15951569,15882967,15815621,15489336,15489334,15231748,15144186,15113837,14702039,13129930,12551915,12477932,11687594,11256614,11230166,11076863,10993906,10982817,10899310,9119409,15231747,17403676,10567358,12218189,15962011,19054391,17081983,16730941,16713569,16381901,17588522,19060904 10254 NM_005843,AC079790,AL161997,CH471058,AF042273,AF042274,AK023490,AK292265,AK292847,AK310863,AL133600,BC022277,BC028740,BI548350,BQ000599 NP_005834,AAY14712,EAX11490,EAX11491,EAX11492,AAC63963,AAC63964,BAF84954,BAF85536,CAB63735,AAH28740,O75886,CAL38297,ABM83353,ABM86567 Hs.17200 DKFZp564C047|Hbp|STAM2A|STAM2B HSE1 homolog|Hrs-binding protein|STAM-2|STAM-like protein containing SH3 and ITAM domains 2|signal transducing adapter molecule 2 protein-coding 1606575 STAMBP STAM binding protein Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq] 10383417,14755250,17711858,9110174,8619474,20936779,17159328,17261583,16854379,16760479,16730941,16716190,16520378,15815621,15489334,15314065,14737182,14728725,14702039,12477932,12370088,11713295,11483516,10899310,10224278,16189514,10982817,12176364,12773374,16169070,17078930,18758443,19060904,19615732,19684015,19906316,20159979 10617 NM_201647,NM_006463,NM_213622,AC073046,BX538085,CH471053,AF052135,AK023768,BC007682,BC065574,BC101467,BC101469,BF203378,BM478027,BQ929694,CR596067,CR598843,EU927390,U73522 NP_964010,NP_006454,NP_998787,AAX88908,EAW99714,EAW99715,EAW99716,AAH07682,AAH65574,AAI01468,AAI01470,ACH57452,AAD05037,O95630,ABM83542,ABM86782 Hs.469018,Hs.657598 AMSH|MGC126516|MGC126518 OTTHUMP00000202512|OTTHUMP00000202513|STAM-binding protein|associated molecule with the SH3 domain of STAM|endosome-associated ubiquitin isopeptidase protein-coding 1603015 STAMBPL1 STAM binding protein-like 1 17426287,16716190,16189514,15489334,15164054,14728725,14702039,12943674,12810066,12477932,10718198,14755250,16385451,19615732 57559 NM_020799,AL157394,CH471066,AB010120,AB037794,AK056086,AK090678,AK092946,BC010846,BX649096,CR598186 NP_065850,CAI13861,CAI13862,CAI13863,EAW50156,EAW50157,EAW50158,BAC77766,BAA92611,BAG51619,BAG52212,BAG52631,AAH10846,Q96FJ0 Hs.16229 ALMalpha|AMSH-FP|AMSH-LP|FLJ31524|KIAA1373|bA399O19.2 AMSH-like protease|OTTHUMP00000020055|STAM-binding protein-like 1|associated molecule with the SH3 domain of STAM (AMSH) - Family Protein|associated molecule with the SH3 domain of STAM (AMSH) like protein protein-coding 1603225 STAP1 signal transducing adaptor family member 1 The protein encoded by this gene functions as a docking protein acting downstream of Tec tyrosine kinase in B cell antigen receptor signaling. The protein is directly phosphorylated by Tec in vitro where it participates in a postive feedback loop, increasing Tec activity. [provided by RefSeq] 20379614,17207965,10518561,17052657,16964243,16806233,15489334,14615539,12540842,12477932,11329013,10679268,10358768,11716489 26228 NM_012108,AC096720,AC109356,CH471057,AB023483,AK313676,BC014958,BG190230 ADQ31721,NP_036240,AAY40998,EAX05547,EAX05548,BAA85311,BAG36427,AAH14958,Q4W5K1,Q9ULZ2 Hs.435579 BRDG1|STAP-1 BCR downstream signaling 1|BCR downstream-signaling protein 1|OTTHUMP00000159640|docking protein BRDG1|signal-transducing adaptor protein 1|signal-transducing adaptor protein-1|stem cell adaptor protein 1 protein-coding 1601996 STAP2 signal transducing adaptor family member 2 This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 16365431,18573890,17675501,15611091,15489334,14702039,12810085,20929863,12540842,12477932,11441184,10980601,7644468,20677014,18029348,19393627,19401194,19933863 55620 NM_017720,NM_001013841,AC008616,AC104521,AJ245719,AK000241,AK125774,BC000795,BF677969,CR596893 NP_060190,NP_001013863,CAB65105,BAA91028,AAH00795,Q9UGK3 Hs.194385 BKS|FLJ20234 BRK substrate|breast tumor kinase substrate|brk kinase substrate|signal-transducing adaptor protein 2|signal-transducing adaptor protein-2 protein-coding 735413 STAR steroidogenic acute regulatory protein The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq] 1600070,1599698,4845252,4145934,4145630,4832477,4833436,4889107,4889527,4145530,4145592,2325883 19913121,20628086,20734064,20877624,20444910,15897605,16973755,19453261,19272380,19271249,19095060,19022561,19001523,18829024,18729825,18665078,18636124,18583320,18505908,18490834,18450961,18341481,18331352,18250166,18191841,18084157,18000307,17666473,17433772,17374711,16990645,16901925,16234239,16162390,15985476,15777208,15666812,15546900,15489334,15181096,14764819,14726488,14702039,14565954,12933667,12925534,12909641,12843197,12834921,12727988,12530644,12477932,12372832,12044915,11489878,11145563,11061515,10802740,10566637,10548884,10323391,9804848,9398748,9188726,9110174,9097960,8619474,7761400,7548191,7547998,16169070,8943003,8634702,8948562,15583024,18945429,19231010,19744555,19849856,19899816,19903795,19930843,19946756,20199803,20379614,20601698,20660033 1600070,1599698,4845252,4145934,4145630,4832477,4833436,4889107,4889527,4145530,4145592,2325883 6770 NM_000349,NG_011827,AC084024,CH471080,DQ194260,DQ194261,DQ243706,U29105,AF035277,AK090513,AK315122,AL526126,AV706111,AV706872,AV707696,AV708514,AY532319,BC010550,BX647744,CR456803,CR541850,CR591216,CR616953,S79669,U17280 NP_000340,EAW63334,EAW63335,ABA25863,ABA25864,ABB51615,AAC50234,AAB88174,BAG37577,AAS57684,AAH10550,CAG33084,CAG46648,AAB35726,AAC50141,P49675,Q306J4,Q3LR71,Q3LR72,Q6IBK0,Q6QNJ9,ABM82732,ABM85916 Hs.521535 STARD1 START domain containing 1|START domain-containing protein 1|StAR-related lipid transfer (START) domain containing 1|cholesterol trafficker|mitochondrial steroid acute regulatory protein|steroid acute regulatory protein|steroidogenic acute regulator|steroidogenic acute regulatory protein, mitochondrial protein-coding 1315225 STARD10 StAR-related lipid transfer (START) domain containing 10 19913121,20543867,20628086,17561512,15911624,15489334,14702039,14576202,12477932,10810093,9610721,17207965,19676041 10809 NM_006645,AP002381,AP003065,CH471076,AF039696,AF151810,AK095668,AK315255,BC007919,BC014033,BC035482,CR599708 NP_006636,EAW74867,EAW74868,EAW74869,EAW74870,EAW74871,EAW74872,AAC18045,AAD34047,BAG53103,AAH07919,AAH14033,Q9Y365,ADQ32095 Hs.188606 CGI-52|MGC14401|NY-CO-28|PCTP2|SDCCAG28 PCTP-L|PCTP-like protein|START domain containing 10|START domain-containing protein 10|antigen NY-CO-28|serologically defined colon cancer antigen 28|stAR-related lipid transfer protein 10 protein-coding 1344085 STARD13 StAR-related lipid transfer (START) domain containing 13 This gene encodes a protein that contains a sterile alpha motif domain in the N-terminus, an ATP/GTP-binding motif, a GTPase-activating protein domain, and a STAR-related lipid transfer domain in the C-terminus. The gene is located in a region of chromosome 13 that has loss of heterozygosity in hepatic cancer. At least three alternatively spliced transcript variants have been described for this gene. [provided by RefSeq] 1580863 16712791,19913121,20628086,15057823,14702039,12531887,12477932,8812419,14697242,18651974,16217026,15489334,15342556,15231748,20364137,20379614 90627 NM_178006,NM_052851,NM_178007,AL139187,AL627232,CH471075,Z84483,AA256386,AK091804,AK094704,AK095114,AK308430,AK308453,AK312888,AL049801,AY082589,AY082590,AY082591,AY082592,AY366448,BC046563,BP233049,BX641149,BX647695,CB163673,CR597966,DC402824 NP_821074,NP_443083,NP_821075,CAM23625,CAM23626,CAM17900,EAX08527,EAX08528,EAX08529,EAX08530,EAX08531,CAC94774,BAG52418,BAG52916,BAG52987,BAG35736,CAB42562,AAL91648,AAL91649,AAL91650,AAL91651,AAQ72791,AAH46563,CAE46065,CAI46026,Q6MZG8,Q86XT0,Q9Y3M8 Hs.507704 ARHGAP37|DLC2|FLJ37385|GT650 46H23.2|DLC-2|Rho GTPase activating protein on chromosome 13q12|START domain containing 13|START domain-containing protein 13|deleted in liver cancer 2 protein|rho GTPase-activating protein|stAR-related lipid transfer protein 13 protein-coding 1347857 STARD3 StAR-related lipid transfer (START) domain containing 3 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD3 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 20198306,12011453,9270027,7490069,9139840,19272380,19124506,18331352,17117180,16990645,16709157,15930133,15718238,15489334,15010812,14702039,12477932,12459035,12398991,12070139,12011452,11196440,11053434,10995240,10802740,9373149,9237999,8125298,19913121,20628086,19965586 10948 DC367486,NM_001165937,NM_001165938,AC087491,CH471152,AB209772,AK123364,AK225069,AK300176,AK300842,AK301524,AK303114,AL831952,BC008356,BC008747,BC019286,BC025679,BC047766,BT006964,CR604890,CR615972,CR617708,D38255,NM_006804,X80198 NP_001159409,NP_001159410,NP_006795,EAW60584,EAW60585,BAD93009,BAG53896,BAG61955,BAG62493,BAG63027,BAG64220,AAH08356,AAH08747,AAH25679,AAP35610,BAA22525,CAA56489,Q14849,Q59EN9,ABM92192,ABM84661,ACE87222,ACE86541 Hs.77628 CAB1|FLJ41370|MLN64|es64 MLN 64|START domain-containing protein 3|metastatic lymph node gene 64 protein|metastatic lymph node protein 64|stAR-related lipid transfer protein 3|steroidogenic acute regulatory protein related protein-coding 1318520 STARD3NL STARD3 N-terminal like STARD3NL is a late endosomal protein that interacts with MLN64 (STARD3; MIM 607048) and may mediate endosomal cholesterol transport (Alpy et al., 2002 [PubMed 12393907]; Alpy and Tomasetto, 2006 [PubMed 16709157]).[supplied by OMIM] 1580863 18636124,17081983,16709157,15718238,15489334,14715710,14702039,12975309,12853948,12690205,12477932,12393907,9847074,19801982,19913121,20628086 83930 NM_032016,AC006033,AC093460,CH236951,CH471073,CS101346,AJ492267,AK091579,AK315404,AY358645,BC003074,BC005959,CR600081,CR600146,CR609062,CR609534,CR610017,CR613249,CR617578,CR622332,CR622841,CR624249,CR625702,CR626446,X85793 NP_114405,AAS07552,EAL23983,EAW94088,EAW94089,EAW94090,CAJ00716,CAD37353,BAG37796,AAQ89008,AAH03074,AAH05959,CAA59792,O95772,Q86TP2,ABM86264 Hs.727529 MENTHO|MGC3251 MLN64 N-terminal domain homolog|OTTHUMP00000135266|OTTHUMP00000207234|OTTHUMP00000207235|OTTHUMP00000207236|OTTHUMP00000207237|STARD3 N-terminal-like protein protein-coding 1319833 STARD4 StAR-related lipid transfer (START) domain containing 4 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 18403318,16579971,15760897,14702039,12477932,12011452,19913121,20628086,20059974,20379614 134429 NM_139164,AC011422,CH471086,AF480299,AK054566,AK125317,AK290312,AK308851,AK310848,AK315863,AK315869,AL832599,BC019632,BC042956 NP_631903,EAW49026,EAW49027,EAW49028,EAW49029,EAW49030,EAW49031,AAL87129,BAB70759,BAF83001,BAF98754,BAF98760,CAD89942,AAH42956,Q86T95,Q86TN9,Q96DR4 Hs.93842 OTTHUMP00000222826|OTTHUMP00000222827|START domain containing 4 sterol-regulated|START domain containing 4, sterol regulated|START domain-containing protein 4|stAR-related lipid transfer protein 4 protein-coding 1317618 STARD5 StAR-related lipid transfer (START) domain containing 5 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD5 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 16534142,15583024,15897605,19474188,15760897,15489334,14702039,12770731,12477932,12011452,11247670,9373149,8125298,19913121,20628086,20237496 80765 NM_181900,AC103858,CH471136,AF480304,AK026352,AK097024,AK225479,AL137657,BC004365 NP_871629,EAW99095,EAW99096,EAW99097,AAL89654,CAB70862,AAH04365,Q9NSY2 Hs.513075 MGC10327 START domain containing 5|START domain-containing protein 5|stAR-related lipid transfer protein 5 protein-coding 1351128 STARD6 StAR-related lipid transfer (START) domain containing 6 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 12011452,19913121,20628086 147323 NM_139171,AC093462,CH471096,AF480305 NP_631910,EAW63002,EAW63003,EAW63004,EAW63005,AAL89655,P59095,AAI40309,AAI46469 Hs.438779 START domain containing 6|START domain-containing protein 6|stAR-related lipid transfer protein 6 protein-coding 1316908 STARD7 StAR-related lipid transfer (START) domain containing 7 Although the function of this gene is not known, its existence is supported by mRNA and EST data. The predicted gene product contains a region similar to the STAR-related lipid transfer (START) domain, which is often present in proteins involved in the cell signaling mediated by lipid binding. Alternatively spliced transcript variants have been described, although some transcripts occur only in cancer cell lines. [provided by RefSeq] 17672918,15489334,15146197,15013637,14702039,12477932,19679347,20042613 56910 AK023234,AK054615,AK094925,AK096666,AK291190,AL542720,BC003028,BC007894,BC008894,BC009998,BC012774,BC012793,BC013279,BC014076,BC014274,BC032106,CN394859,CR606991,CR609652,CR749695,AB075479,AF270647,NM_020151,AC012307,CH471207 AAF81750,BAG51400,BAF83879,AAH07894,AAH08894,AAH09998,AAH12774,AAH12793,AAH13279,AAH14076,AAH14274,AAH32106,Q9NQZ5,NP_064536,AAY24223,EAW71382,EAW71383 Hs.469331 GTT1 START domain containing 7|START domain-containing protein 7|gestational trophoblastic tumor protein 1|stAR-related lipid transfer protein 7, mitochondrial protein-coding 1351860 STARD8 StAR-related lipid transfer (START) domain containing 8 1580863 17976533,17517630,17297465,16685650,15772651,15489334,12477932,8724849,19913121,20628086 9754 NM_001142503,NM_014725,NM_001142504,AL360076,AL732324,CH471132,AK291747,BC035587,CR749411,D80011,BQ019015,NG_016856 NP_001135975,NP_055540,NP_001135976,CAI41586,EAX05374,EAX05375,BAF84436,AAH35587,CAH18253,BAA11506,Q92502,ABM81843 Hs.95140 ARHGAP38|DKFZp686H1668|DLC3|KIAA0189|STARTGAP3 START domain containing 8|deleted in liver cancer 3 protein|stAR-related lipid transfer protein 8 protein-coding 1349851 STARD9 StAR-related lipid transfer (START) domain containing 9 18464913,16964419,12477932,10718198,7633422,16169070,19913121,20628086 57519 BX648326,NM_020759,AC018362,AC090510,Z47043,Z47044,AB037721,AK025589,AK297603,AL133579,CR622393,CR749416,CR936665 NP_065810,CAA87105,BAA92538,BAB15181,BAG59988,CAB63725,CAH18258,Q15885,Q9H6S2,Q9P2P6 Hs.122061 DKFZp686O248|DKFZp686P19131|DKFZp781J069|FLJ16106|FLJ21936|KIAA1300 START domain containing 9|START domain-containing protein 9|stAR-related lipid transfer protein 9 protein-coding 1353402 STARP1 steroidogenic acute regulatory protein pseudogene 1 7761400 6771 NG_002464,AL139088,U29106 STARD1P1 pseudo 732184 STAT1 signal transducer and activator of transcription 1, 91kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1357935,2291893,2291895,2291900,2291905,2291892,2298537,2291894,2290484,1600091,1600092,1582346,1600087,1600090,1600103,1600105,1625126,1580863 19913121,20588308,20628086,20628624,20798561,18218993,18035482,18003888,17986321,17983380,17938255,17933493,17928350,17918184,17909067,17897103,17878351,17804871,17726060,17703412,17686504,17680769,17640695,17617740,17596301,17561467,17538964,17523873,17490620,17486072,17442890,17427945,17386941,17371985,17346710,17287281,17266440,17237409,17227821,17182865,17145596,17075845,17030574,16978698,16951379,16940534,16935931,16934001,16918696,18062835,16904741,16897667,16878149,16799645,16773129,16628196,16585190,16574066,16572323,16571725,19351818,19333953,19258923,19231233,19223260,19211553,19171783,19136629,19124747,19100922,19088846,19074829,19041714,19017763,19012493,19007958,18989459,18950845,18832710,18818378,18803832,18789440,18787531,18787082,19423540,19404407,18775329,18771758,18676680,18660489,18633131,18591661,18586252,18579584,18566411,18500930,18483262,18463151,18424756,18401423,18381204,18370868,18348986,18338947,18305569,18305014,18280748,18225539,8608597,16306601,16531398,10848577,10692450,10973496,9630226,18029348,19646959,19582813,19508864,19502801,19478064,19453261,19437244,19436109,19434718,19424608,16511123,16501077,16481475,16467883,16388135,16344560,16318585,16260419,16257975,16254375,16236267,16223733,16195225,16189514,16148142,16148108,16077199,15998520,15996661,15979846,15919942,14599788,14557668,14500749,12967644,12963127,12948935,12923054,12917439,12867595,12856330,12855578,12855573,12846741,12832402,12817007,12807916,12804771,12788789,12777975,12759242,12748293,12734330,12722480,12637327,12634403,12629155,12610144,12590259,12551969,15217838,15280488,15221897,15213094,15210729,15165826,15146197,15140960,15123634,15055356,15010467,14976049,14963018,14755057,14751560,14746803,14702039,14690454,14688135,14674010,14657353,14656722,14654702,14654078,14623896,14600148,17196131,20345984,12477932,12459177,12447867,12426389,12388709,12356736,12270932,12232802,12232043,12223098,12191570,12171910,12167251,12165521,12161037,12138178,12130529,12070153,12048190,12039028,11981818,11972023,11932384,11927559,11909970,11909852,11886859,11843291,11839738,11835405,11815625,11804954,11777927,11752148,11722592,11452125,11442634,11418623,11301323,11294897,11278865,11278462,11257227,11248027,11238845,11226159,11152457,10982844,10961983,10954736,10918587,10851062,10851046,10848598,10805787,10792030,10764778,20576130,20211142,20802378,20829351,20937132,20980339,16512786,15825084,15284024,12539042,10702714,20662656,15824515,15795279,15784679,15780933,15778351,15650219,15604419,15527154,15494521,15489334,15467722,15322115,7514165,1502203,1496401,16703666,15638726,11675348,19131965,10358079,12960323,11594781,9121453,15284440,10464260,17353931,14499622,11520787,10964507,10652206,10602027,10506573,10490649,10446176,10358045,10067896,9989503,9925928,9880553,9843502,9804857,9724754,9584171,9484840,9452495,9373245,9373149,9355737,9344858,9284918,9205132,9135145,9069288,8986769,8943351,8889548,8631962,8621447,8549654,8232552,8125298,7885841,7690989,7657660,7543024,19046253,20523058,20428775,20457620,17351669,20974984,7510216,20519510,20833730,20103601,20810735,20936779,14704793,16298512,17923090,19170196,19342095,19380416,19393742,19439556,19464956,19515782,19553685,19561067,19574556,19594299,19596857,19604093,19622834,19625176,19652026,19656875,19667270,19691533,19692168,19781967,19801665,19802007,19857525,19891767,19915063,19915608,19935876,20011528,20045654,20065083,20093796,20098684,20180146,20331378,20347693,20379614,20406964,20438785,20503287,9037008,20225206,20624457,20937272 1357935,2291893,2291895,2291900,2291905,2291892,2291894,2290484,1600091,1600092,1582346,1600087,1600090,1600103,1600105,1625126 6772 CR601119,CR618286,CR749636,CR998778,DA313984,EB385742,M97935,M97936,CN410740,NM_139266,NG_008294,AC067945,AF182311,AY366464,AY865620,CH471058,U18662,U18663,U18664,U18665,U18666,U18667,U18668,U18669,U18670,AI992149,AK096686,AK225853,AK292604,AK315002,BC002704,BC141921,BG699050,BT007241,BU738296,BX400908,NM_007315,CS542449,CS542451,GU211347,GU211348 CAH18430,AAB64012,P42224,Q67C41,ACE87421,ACE86735,NP_009330,NP_644671,AAY24183,AAR13284,AAW56072,EAX10850,EAX10851,EAX10852,EAX10853,EAX10854,EAX10855,BAF85293,BAG37497,AAH02704,AAI41922,AAP35905,CAM91174,CAM91175,ADA59516,ADA59517 Hs.642990,Hs.727504 DKFZp686B04100|ISGF-3|STAT91 OTTHUMP00000165046|OTTHUMP00000205845|signal transducer and activator of transcription 1|signal transducer and activator of transcription 1-alpha/beta|signal transducer and activator of transcription-1|transcription factor ISGF-3 components p91/p84 1643406 BMD6_H protein-coding 1323217 STAT2 signal transducer and activator of transcription 2, 113kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. [provided by RefSeq] 1580863,1357935,2303397,1625126 19913121,20533260,20588308,20628086,9020188,17923090,19434718,19351818,19279106,19159017,19007958,18796709,18771758,18701593,18579593,18456457,18370868,18338947,17538964,17442890,16978698,16918696,16689942,16501077,16227264,15717316,15668228,15650219,15489334,15221897,15175343,15165826,14722125,14702039,14645718,14557668,12804771,12777975,12610111,12509459,12477932,12388709,12244326,12220192,12167251,12050355,12048190,12039028,11932384,11804954,11786546,11564163,11150296,10702714,10506573,10490982,10464260,18029348,20937132,20953190,9804758,9242679,9121453,8848048,8621447,8605877,7885841,7746328,7559568,1502204,8943351,15467722,8601453,10446176,8605876,20428775,11694501,17351669,19169254,19423540,19561067,19730683,19754307,20068068,20331378,20406964,20438785 1357935,2303397,1625126 6773 NM_005419,AC025574,AY525126,CH471054,S81491,U18671,AK094039,AK295052,AK295114,AK296939,AK296940,AK308051,AK310727,AK316516,BC006092,BC051284,BX640607,CD684210,CR621797,M97934,CS542453,DB482283,NM_198332 NP_005410,AAS00091,EAW96934,EAW96935,EAW96936,EAW96937,AAB36225,AAB36226,AAB36227,AAA98760,BAG58101,BAG58143,BAG59489,BAG59490,BAH14887,AAH06092,AAH51284,CAE45713,P52630,Q6LD48,Q6N0A7,CAM91176,NP_938146 Hs.530595 ISGF-3|MGC59816|P113|STAT113 interferon alpha induced transcriptional activator|signal transducer and activator of transcription 2 protein-coding 737517 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863,1357935,2291910,1643476,2291916,2291917,2291915,2291931,2291921,2291908,2291911,2291913,2298536,2298538,2298537,2291912,2291914,1625125,1600611,1625126 19913121,20331635,20356901,20490271,20516069,20562100,20628086,20628624,20634891,20816194,20456494,20686606,20709283,7512451,8675499,15664994,9670957,12552091,10205054,18029348,19653082,19595668,19556508,19506034,19492417,19457567,19447160,19429240,19422935,19414409,19403642,19393627,19390056,19385051,19372705,19360334,19348930,19345327,19341726,19331815,19288493,19287190,19284568,19273247,19265112,19264844,19259951,19258923,19254694,19251695,19249008,19248116,19223541,19203349,19176463,19175826,19153190,19151334,19148533,19147578,19147545,19147543,19144991,19121623,19118011,19110536,19109129,19088723,19088198,19088064,19077438,19074878,19070595,19068216,19064501,19049975,19032945,19020709,19017763,19010822,18988672,18988190,18987331,18985005,18978678,18978467,18948751,18947877,18939995,18922788,18841165,18829527,18829483,18789715,18782771,18779368,18777586,18768494,18758380,18755494,18755267,18752497,19278424,18729804,18706697,18703315,18700251,18695911,18684866,18676737,18662321,18644974,18636124,18614255,18602747,18602572,18592012,18591412,18591410,18587394,18583177,18577706,18573283,18556750,18550668,18547788,18535750,18524891,18523665,18519681,18505768,18504423,18503751,18503159,18483365,18483262,18483213,16959370,16951221,16948814,16946298,16935931,16926159,16904741,16887796,16877361,16871275,16861352,16841088,16840717,16835372,16828865,16825495,16807407,16732314,16709613,16685378,16651533,16636048,16619044,16571725,16568091,16557588,16524883,16512876,16503733,16432158,16425286,16407171,16382134,16381901,16377083,16331268,16285960,16278387,16236267,16236134,16192633,16174774,16142329,16140268,16125646,16107692,16098628,16082218,16081048,16061651,16061629,16036105,16007214,15994929,15979846,15958548,15951569,15950906,15944400,12748293,12777975,12763138,12743296,12738762,12707028,12670499,12640143,12637586,12637318,12629515,12629155,12628925,12626508,12623850,12615922,12600988,12576423,12562765,12559950,12556536,12555068,12551922,12547716,12545153,12540842,12531804,12506013,12477932,12466961,12444174,12444102,12426389,12396456,12393476,12389630,12361954,12359225,12244095,12235142,12208879,12193474,12168776,12105218,12070153,12067972,12061840,12060494,12057007,12039028,12023369,11987152,11960372,11959895,11940572,11940567,11929748,11923478,11882364,11872739,11861839,11861277,11859072,11856732,11853668,11843291,11827956,11815625,11809683,11773079,11751994,11751884,11739197,11722592,11594781,11585385,11536047,11470914,11463827,11438698,11429412,11418668,11350938,11335711,11294897,11279133,11171987,11163768,9398404,9388192,9373245,9343414,9211920,9162009,8923468,8921406,8889548,8657134,8631962,8626489,8626374,8608603,8272872,7719938,7701321,7624343,3031469,17151125,12775419,12089333,17077296,15638726,9440692,9484840,16260903,15343382,11328823,11350939,11322786,15522880,10660304,10358079,11239394,12824284,20199106,20371693,16931573,19760754,20211142,20716621,20802378,20886065,20962850,21068102,21072187,20652679,20691278,20939893,20977777,17822622,20106947,20113333,20213502,20351189,20399615,20463008,18474224,15936715,15530426,12782602,11134330,10875894,20807804,18463684,18457738,18456658,18451776,18448545,18448488,18441325,18438405,18426800,18424427,18413761,18411043,18408167,18398416,18386001,18354204,18353781,18348986,18320073,18310224,18307254,18305569,18276758,18247337,18242580,18239666,18204781,18200666,18198175,18192275,18192274,18189193,18184402,18172861,18172037,18171991,18160665,18097150,18096869,18079966,18077446,18060032,18059167,18058821,18047677,18024479,18024124,17975158,17971300,17967179,17961551,17959148,17956865,17951530,17938255,17920763,17918184,17911267,17911113,17895321,17888401,17881745,17880940,17875759,17875724,17869487,17855663,17855361,17824789,17764814,17726064,17726017,17720094,17716862,17703412,17702747,17700521,17689208,17686614,17676033,17671686,17670892,17668881,17640230,17639043,17636079,17636030,17634553,17616678,17603019,17602083,17597020,17572495,17545518,17543500,17543278,17533050,17531096,17525530,17519976,17463090,17460772,17459060,17438134,17404258,17379849,17376889,17374439,17360477,17344214,17341659,17341611,17333334,17318196,17311011,17289576,17276988,17241887,17220301,17209045,17204573,17203226,17194701,17182572,17151100,17145757,17142261,17078813,17015686,17012261,17008315,16984731,15935090,15923602,15917293,15912144,15905571,15895073,15894558,15882975,15878791,15870198,15845643,15837065,15809078,15764709,15736426,15735721,15735720,15735682,15688010,15682485,15677474,15673499,15665295,15653507,15650183,15649887,15643501,15629435,15615703,15604419,15592455,15590419,15588985,15575898,15489334,15485908,15476590,15474458,15465816,15378007,15336564,15297310,15286705,15284113,15277698,15254691,15242774,15229229,15223310,15207733,15198092,15194868,15194700,15184909,15165826,15163742,15162527,15161657,15156153,15150111,15145953,15143062,15141228,15077160,15070700,15064716,15034082,15007380,14966128,14963038,14737107,14736711,14715258,14715251,14712222,14702039,14701810,14688368,14674010,14672334,14647442,14593105,14551213,14522952,14515142,12969979,12963127,12960275,12947115,12900415,12873986,12867595,12865943,12865928,12846741,12833138,12832402,12821944,12804609,12789269,15489336,11076863,11021801,10982829,10954736,10925297,10918587,10878010,10825200,10809230,10764767,10688651,10602027,10570284,10521505,10506573,10490649,10464281,10458605,10446219,10441580,10037026,9989503,9923604,9917912,9872331,9864141,9714332,9647732,9630560,9584171,9566874,20368117,20431064,14704793,14968112,16186805,16231698,16298512,16306601,16401721,16531398,17626740,17672932,17923090,17927847,18069631,18390202,18639471,18821062,19068194,19255588,19272804,19272817,19329556,19362457,19421230,19421717,19423540,19424782,19435463,19484147,19491198,19503092,19509418,19574718,19577286,19578748,19601808,19601811,19608729,19608866,19616333,19616846,19623660,19626047,19638983,19642906,19647363,19652645,19658181,19664131,19667218,19667270,19684620,19691533,19717292,19718269,19723038,19724924,19730683,19741197,19741199,19751774,19764561,19764570,19776189,19781773,19781967,19789190,19789299,19796718,19817957,19819066,19824884,19825993,19843641,19851315,19861436,19861958,19875458,19876927,19878271,19889776,19900287,19901082,19901516,19903771,19913854,19934272,19951849,19995546,20012909,20032196,20032313,20032975,20038814,20043094,20048285,20052595,20053726,20053772,20059466,20065083,20068065,20069389,20072651,20072652,20109474,20124472,20128024,20132164,20145033,20149042,20149460,20154216,20159113,20159251,20159255,20160059,20164027,20197401,20200543,20204302,20222910,20232316,20237496,20331378,20348091,20379614,20388777,20406964,20438785,20483734,20503287,20515335,19632985,20459702,20484656,20490331,20507639,20585009,18787400,19603082,19915152,20516148,20668024,20860602,18851787,20627814,18234692,19758315,19968719,20209132,20830236,20943775,20107204,20447714,20514402,20519510,20797623,20167868,20929863 1357935,2291910,1643476,2291916,2291917,2291915,2291931,2291921,2291908,2291911,2291913,2298536,2298538,2291912,2291914,1625125,1600611,1625126 6774 NM_139276,NM_003150,NM_213662,NG_007370,AC087691,AC107993,AF332508,AY572796,CH471152,AI631896,AJ012463,AK024535,AK092965,AK291933,AK297994,AK301200,AK316139,BC000627,BC008044,BC014482,BC029783,BC067119,BC107775,BI461226,CB216860,CB321646,CF454565,L29277,AB451232,AF029311,HI961665 NP_644805,NP_003141,NP_998827,AAK17196,AAS66986,EAW60820,EAW60821,EAW60822,EAW60823,EAW60824,EAW60825,EAW60826,EAW60827,BAG70046,P40763,Q9BXH2,CAL37986,ABZ92186,ACE87126,ACE86450,CAA10032,BAF84622,BAG60302,BAG62778,BAH14510,AAH00627,AAH14482,AAB84254,AAA58374,CBY84972 Hs.463059 APRF|FLJ20882|HIES|MGC16063 DNA-binding protein APRF|acute-phase response factor|signal transducer and activator of transcription 3 protein-coding 1313964 STAT4 signal transducer and activator of transcription 4 The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. [provided by RefSeq] 1580863,1357935,1625126 9989503,9284918,18029348,19500629,19479340,19404967,19371230,19333953,19332627,19286670,19282076,19258923,19225526,19120275,19110536,19109131,19092842,19019891,18803832,18802110,18759272,18703106,18625278,18579578,18576336,18576330,18516230,18434327,18432273,18273036,18204446,18204098,17932559,17804842,17703412,17532201,17095088,17046972,16301617,16081070,15744455,15637551,15489334,15087447,14660657,12805384,12716907,20716621,20797713,20822712,20848568,20861858,20881011,20962850,20973039,20153791,20453440,12477932,12426389,12372421,12039028,11801649,11397944,10961885,10779770,10415122,9890938,9630226,8700208,8007943,7638186,12496413,12615922,14704793,15522880,19359411,19362457,19423540,19565500,19588142,19605742,19605749,19644876,19644887,19674979,19684152,19710469,19717398,19737838,19741008,19762360,19838193,19877059,19950257,20045654,20049410,20131273,20169389,20176035,20219786,20233754,20237121,20237496,20353580,20360187,20379614,20383147,20406964,20438785,20438790,20439292,20444755,20454450,20479942,20498205,20503287,20535138,19165918,20453841,20453842 1357935,1625126 6775 AC067945,AC079777,AF423072,CH471058,AK299976,AK300868,AK301172,BC016694,BC031212,BF966132,EU304788,EU304789,EU304790,EU304791,EU304792,EU304793,L78440,AB209043,NM_003151,NG_012852 NP_003142,AAY24184,AAY15055,AAL12164,EAX10846,EAX10847,EAX10848,EAX10849,BAG61799,BAG62516,BAG62759,AAH31212,ACA01857,ACA01858,ACA01859,ACA01860,ACA01861,ACA01862,AAB05605,Q14765,Q53RU2,Q53S87,Q59GR6,BAD92280,ABM82474,ABM85662 Hs.80642 SLEB11 signal transducer and activator of transcription 4 protein-coding 737523 STAT5A signal transducer and activator of transcription 5A The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for the tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. [provided by RefSeq] 1580863,1357935,2291932,2291927,2291930,2298539,2303397,1624963,1625126 20233708,16819511,7719937,8631883,19309697,19276230,19262752,19258923,19036881,18838617,18830265,18779318,18660489,18616510,18483262,18460645,18436865,18378698,18296629,18271926,18270368,18172316,18063684,18023521,17938255,17922009,17913706,17867599,17846080,17726024,17703412,17666591,17639043,17438530,17376889,17332243,17330131,17220171,17214852,17169805,17128418,17081983,17038539,17015686,16973758,16954437,16840779,16804404,16729043,16684963,16572323,16532027,16502315,16476059,16455947,16407271,16303247,16189514,16133357,16115927,15795318,15677474,15652752,15611091,15592524,15534001,15489334,15358227,15353555,15313458,15304355,15169792,15128421,15063762,15048088,14726487,14726409,14696092,14645506,14637146,14597631,12954634,12901872,12847485,12477932,12459499,12456798,12393707,12377952,12237455,12208876,12198240,12193575,12091337,12060651,12039059,12039028,11997457,11973644,11923474,11867689,11861304,11779872,11773439,11756417,11726519,11722592,11682624,11440634,11418668,11418623,18029348,20716621,20113333,20489169,15588985,15010467,11413148,11167825,11158330,11097834,11030348,10996427,10825200,10652277,10617656,10602027,10570284,10428030,10358079,10358045,10194762,10037796,10037026,9989503,9880255,9837784,9575217,9528750,9484840,9398404,9373245,9122188,9047382,8977232,8878484,8732682,8702683,8617237,7925280,7719938,12605694,11485409,16289657,15735688,10594041,20508164,20388848,20415542,9030599,14704793,15644415,19362457,19423540,19423653,19491198,19571317,19675167,19779039,19797429,19817957,19864382,19923221,19956772,19966185,20065083,20124477,20214633,20331378,20339093,20406964,20438785,20503287,20530519,20974963 1357935,2291932,2291927,2291930,2298539,2303397,1624963,1625126 6776 NM_003152,AC087691,AC099811,AJ412878,CH471152,CQ815789,AB208972,AK291650,AK301457,AK310632,AK310713,BC027036,CR597393,DQ471288,L41142,U43185,HI179066 NP_003143,CAD19637,EAW60819,CAG32953,BAD92209,BAF84339,BAH13486,AAH27036,ABF17939,AAA73962,AAB06589,P42229,Q1KLZ6,Q59GY7,Q8WWS9,ABM82649,ABM85826,CBX53841 Hs.437058 MGF|STAT5 signal transducer and activator of transcription 5A protein-coding 730906 STAT5B signal transducer and activator of transcription 5B The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq] 1580863,1601383,1624963,2291935,2291940,2303397,2291933,1625124,1601380,1625126 20227268,20233708,19913121,20628086,10830280,10815800,10720694,10652277,10617656,10602027,10558875,10506573,10441338,10358045,9880255,9845531,9813029,9804779,9528750,9484840,9428692,9398404,9211920,9122188,8977232,8923468,8878484,8732682,8702476,7719938,11485409,16289657,11350939,9047382,9575217,10594041,20716621,20702587,20339477,20372811,20621061,20372799,18285272,18276758,18197699,18172316,17997837,17881646,17822672,17726024,17652536,17639043,17630355,17546465,17509524,17471233,17438530,17389811,17148664,16964243,16920911,16887981,16840779,16772534,16765629,16729043,16584384,16502315,16476059,16464942,16303763,16169484,16155412,16115927,15944278,15677474,15611091,15591245,15588985,15489334,15128421,15105428,15067053,15010467,14726487,14726409,14662325,14645506,14583472,13679528,12954634,12901872,12847485,12642867,12621061,12538627,12477932,12456798,12429742,12377952,12237455,12198240,12193575,12167251,12145702,12089361,12039059,12039028,12036885,11929749,11929748,11923474,11867689,11773439,11751923,11726519,11562369,11440634,11158330,11097834,11030348,10996427,12552091,9989503,8631883,19375647,19290007,19047094,18978678,18927468,18831980,18768844,18660489,18550772,18430728,10954736,12605694,20585448,20415542,20534752,20538865,20644163,14704793,15644415,17672932,19011510,19349617,19362457,19423540,19630967,19709433,19775300,19796718,19923221,19966185,20065083,20352702,20406964,20438785,20167868 1601383,1624963,2291935,2291940,2303397,2291933,1625124,1601380,1625126 6777 NG_007271,AC099811,AJ412888,CH471152,CQ815791,AB208920,AK308163,AL040162,AL080218,BC020868,BC029072,BC065227,U47686,U48730,NM_012448 CAD19638,EAW60817,CAG32954,BAD92157,AAH20868,AAH65227,AAC50491,AAC50485,P51692,Q59H39,Q8WW55,ABZ92030,NP_036580 Hs.595276 STAT5 signal transducer and activator of transcription 5B|transcription factor STAT5B protein-coding 1319194 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. [provided by RefSeq] 1357935,2298560,2298559,2298563,2303397,1625126,1580863 19540524,19913121,20530519,20628086,20480530,9989503,10747856,18029348,19494273,19488417,19419769,19372141,19282076,19258923,19247692,19030780,19011907,18846228,18716132,18636124,18626468,18536936,18497474,18345495,18342537,18296848,18294957,18273035,18251702,18191727,17883727,17705178,17703412,17652621,17606441,17541284,17532201,17433443,17371990,17362266,17237818,17213269,17210636,17121586,17074026,16951379,16877367,16867043,16810739,16681592,16601843,16547812,16387423,16103897,16084752,16004996,15888279,15793005,15733066,15695802,15687724,15661890,15637551,15528258,15526032,15522309,15489334,15342695,15297269,15199062,15105161,15069079,15044251,15004182,14757047,14746803,14735150,14719123,14634100,14519766,12935900,12900808,12794133,12791978,12759487,12689929,12651067,12605697,12477932,12459556,12426308,12234934,12161424,12138096,12082548,12058257,12039028,12023955,11944890,11912176,11872954,11692112,11574547,11532018,11509556,11369758,11032724,10856136,10601358,10490982,10490661,10454341,9782085,9712049,9605853,9584180,8810328,8602264,8602263,8085155,17151125,8816495,19949830,20719954,20211142,20716621,20006706,20122976,20339477,20620946,20620947,14704793,19202006,19362457,19423540,19423726,19531027,19551406,19655172,19665768,19857574,20010912,20040389,20121258,20147633,20208534,20237496,20394509,20395963,20406964,20438785,20503287,20624917,20498360,20652946,20225206,21093321 1357935,2298560,2298559,2298563,2303397,1625126 6778 NM_003153,AC023237,AF067572,AF067573,AF067574,AF067575,AF417842,U66574,AB103088,AB103089,AK290431,AK291044,AK298721,AK299094,AK308751,AK312471,AK316142,AK316236,AY615283,BC004973,BC005823,BC075852,BQ028928,BT007380,CR606877,U16031,AI082533,NG_021272,NM_001178078,NM_001178079,NM_001178080,NM_001178081,NR_033659 NP_003144,AAC67525,AAL06595,AAC51204,BAD89431,BAD89432,BAF83120,BAF83733,BAG60875,BAG61154,BAG35377,BAH14513,BAH14607,AAU04439,AAH75852,AAP36044,AAA57193,P42226,Q56TK0,Q5FBW6,Q6LCD8,Q9BQD2,NP_001171549,NP_001171550,NP_001171551,NP_001171552 Hs.524518 D12S1644|IL-4-STAT|STAT6B|STAT6C STAT, interleukin4-induced|signal transducer and activator of transcription 6|transcription factor IL-4 STAT protein-coding 1352585 STATH statherin 1580863 1718282,1741693,1313424,15769251,15489334,12477932,12444093,10748043,10728974,9109822,9048421,7876428,3502720,3476566,3426601,2483725,2373369,1747107,838735,12060866,10831095,16203048,19678690,19799638,20237496,20731414 6779 NM_003154,NM_001009181,AC063956,CH471057,M32639,AK311812,BC067219,BX649104,CB958641,CB986973,M18078,M18371 NP_003145,NP_001009181,EAX05603,EAX05604,EAX05605,AAA60593,BAG34755,AAH67219,AAA60594,AAA60600,P02808 Hs.654495 STR statherin protein-coding 734025 STAU1 staufen, RNA binding protein, homolog 1 (Drosophila) Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR. [provided by RefSeq] 1580863 10022909,15303970,15680326,18806890,18498651,18094122,17510634,17428849,15489334,15231748,15121898,15024055,14702039,12843282,12477932,12388589,12147688,12133005,12065664,11780052,11230166,10823848,10707969,10325410,10022908,8884277,20459747,20504931,16014633,19029303,19710015,20053637,20075165 6780 NM_017452,NM_017453,NM_001037328,NM_004602,AL133174,CH471077,NM_017454,AF061938,AF061939,AF061940,AF061941,AJ132258,AK025519,AK057739,AK091405,AK291487,AK292859,AK298372,AL136601,AY529074,AY546099,BC000830,BC001893,BC007532,BC010169,BC050432,BC095397,AB209561 NP_059348,NP_059346,NP_059347,NP_001032405,NP_004593,CAC14084,CAC14085,CAI42819,CAI42820,CAI42821,CAI42822,EAW75669,EAW75670,EAW75671,EAW75672,EAW75673,Q59F99,Q5JW28,Q5JW29,Q5JW30,Q6PJX3,ACE87673,ACE86984,BAD92798,AAD17530,AAD17531,AAD17532,AAD17533,CAB40082,BAG52352,BAF84176,BAF85548,BAG60611,CAB66536,AAS76636,AAS76637,AAH10169,AAH50432,AAH95397,EAW75674,O95793 Hs.596704 FLJ25010|STAU OTTHUMP00000031236|OTTHUMP00000031238|OTTHUMP00000031239|double-stranded RNA-binding protein Staufen homolog 1|staufen (drosophila, rna-binding protein) protein-coding 1351558 STAU2 staufen, RNA binding protein, homolog 2 (Drosophila) Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10585778,18094122,16964243,15489334,14702039,12477932,12140260,10707969,8889548,15024055,16169070 27067 NM_001164380,NM_001164381,NM_001164382,NM_001164383,NM_001164384,NM_001164385,NM_014393,AC027018,AC100784,CH471068,AB210014,AF459097,AF459098,AK001576,AK002152,AK023314,AK290141,AK293496,AK293729,AK294466,AK303104,AK314617,AL079285,AL079286,AL079288,BC008369,BC008370,BC110447,BC110448,CA311807,CR618603,CR627442,DB501161,Y19062,BC071766,AC018620,AK307841 NP_055208,NP_001157852,NP_001157853,NP_001157854,NP_001157855,NP_001157856,NP_001157857,EAW87003,EAW87004,EAW87005,EAW87006,EAW87007,BAE06096,AAN37926,AAN37927,BAA91766,BAA92111,BAB14522,BAF82830,BAH11522,BAH11582,BAH11778,BAH13900,BAG37183,AAH08369,AAH08370,AAI10448,CAH10527,CAB64341,Q2TBD5,Q4LE57,Q9NUL3,ABM87331,ABW03874 Hs.561815 39K2|39K3|DKFZp781K0371|MGC119606 double-stranded RNA-binding protein Staufen homolog 2|staufen homolog 2 protein-coding 1604058 STBD1 starch binding domain 1 20562859,9794794,16303743,15489334,15231748,14702039,12477932,8828038,19915575 8987 NM_003943,AC034139,CH471057,AF062534,AK002155,AK074635,AK090914,AK123795,BC022301,CR594152 NP_003934,EAX05782,EAX05783,EAX05784,EAX05785,EAX05786,EAX05787,AAC78827,BAG51020,BAG52246,BAG53961,AAH22301,O95210,ABM82900,ABM86091 Hs.109590,Hs.720509 FLJ41801|GENEX3414|GENX-3414 genethonin 1|genethonin-1|starch-binding domain-containing protein 1 protein-coding 730961 STC1 stanniocalcin 1 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq] 1580863,2324700 19913121,20628086,8700837,18786506,18652825,18590575,18355956,18309109,18164591,17457011,17395153,17272771,17032941,16377640,16109785,15489334,15383693,15340161,15149855,15131261,15062564,14503913,14500721,12663264,12477932,12406069,12223480,11861508,10947959,10725397,9794484,9708804,9480753,7892193,7489828,1458489,19267325,19444628,19628018,19712479,20484106,20383146 2324700 6781 NM_003155,AC012119,AF098463,AF242179,CH471080,AK297734,AK309366,AK312589,BC029044,S50179,S50184,U25997,U46768 NP_003146,AAC97949,AAL79522,EAW63610,BAG60084,BAG35483,AAH29044,AAC09472,AAA88903,P52823,Q71UE5,ABM81739,ABM84894 Hs.25590 STC STC-1|stanniocalcin-1 protein-coding 1352877 STC2 stanniocalcin 2 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq] 1580863,2324700,2313895 17909264,17545519,16303743,16169070,15489334,15486227,15367391,15302935,14702039,12477932,10947959,10450831,10022771,19415750,19582875,19786016,20424473,20619259,9723890,9753616,19298603,18492817,18394600,18355956 2324700,2313895 8614 NM_003714,AC106731,CH471062,CS070234,AB012664,AF031036,AF055460,AF098462,AK027390,AK027663,AK075406,AK095862,AK095891,BC000658,BC006352,BC013958,BQ181336,BT019591,CR541825,CR595844,CR597612 NP_003705,EAW61399,EAW61400,EAW61401,CAI93195,BAA33489,AAD01922,AAC27036,AAC97948,BAG51314,BAG51363,BAG52131,BAG53160,AAH00658,AAH06352,AAH13958,AAV38398,CAG46624,O76061,Q6FHC9,ACE87723,ACE87039 Hs.233160 STC-2|STCRP STC-related protein|stanniocalcin-2|stanniocalcin-related protein protein-coding 1323057 STEAP1 six transmembrane epithelial antigen of the prostate 1 This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq] 1580863 19915386,10588738,19124506,18958632,18793824,15958640,15489334,12853948,12690205,12477932,12095985,11479226,9847074,20628624,17207965,19196137 26872 NM_012449,AC004969,AC005053,CH236949,CH471073,CS283329,AF186249,AK304076,AK308452,BC011802,BI549469 NP_036581,AAD15620,EAL24166,EAL24167,EAW93749,EAW93750,EAW93751,EAW93752,CAJ90613,AAF17479,BAG64983,AAH11802,Q9UHE8,ADQ32693 Hs.61635 MGC19484|PRSS24|STEAP metalloreductase STEAP1|six transmembrane epithelial antigen of the prostate|six-transmembrane epithelial antigen of prostate 1 protein-coding 1316015 STEAP2 six transmembrane epithelial antigen of the prostate 2 This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 61503,1580863 12095985,17567994,16609065,15897894,15623366,14702039,12975309,12429817,10613842,19196137,20379614,20587517 61503 261729 NM_152999,NM_001040665,NM_001040666,AC002064,CH236949,CH471091,AF455138,AF526382,AK026813,AK092666,AK094568,AK315043,AY008443,AY008444,AY358267,DQ656061,DQ656062,DR005432 NP_694544,NP_001035755,NP_001035756,EAL24165,EAW76889,EAW76890,EAW76891,EAW76892,EAW76893,EAW76894,AAN04080,AAQ08976,BAG52586,BAG37524,AAG32147,AAG32148,AAQ88634,Q6YPB1,Q6YPB2,Q8NFT2,AAI46342,AAI48825 Hs.489051 IPCA1|PCANAP1|PUMPCn|STAMP1|STMP OTTHUMP00000067572|OTTHUMP00000067573|OTTHUMP00000196964|SixTransMembrane Protein of Prostate 1|metalloreductase STEAP2|prostate cancer associated protein 1|prostate cancer-associated protein 1|protein upregulated in metastatic prostate cancer|six transmembrane epithelial antigen of prostate 2|six-transmembrane epithelial antigen of prostate 2 protein-coding 1605372 STEAP3 STEAP family member 3 20379614,19236508,18495927,16381901,15489336,15319436,14702039,12606722,12477932,12095985,11230166,11076863,2874839,20587610 55240 NM_018234,NM_001008410,AC016673,AC016736,CH471103,AF238864,AF262322,AF423424,AK001691,AK024163,AK291608,NM_182915,AL833624,AY029585,AY082673,AY214461,BC042150,BC095421,BM146930,BX538047,CR596003,CR614870 NP_878919,NP_060704,NP_001008410,AAX88963,AAY14872,EAW95209,EAW95210,EAW95211,EAW95212,AAL78206,AAM08128,AAQ04065,BAA91839,BAB14842,BAF84297,CAH56204,AAK50538,AAM45136,AAO38238,AAH42150,AAH95421,CAD97986,Q658P3,Q9H7Y1,CAL37421 Hs.647822 STMP3|TSAP6|dudlin-2 1010001D01Rik|OTTHUMP00000162093|OTTHUMP00000203624|dudlin 2|dudulin 2|dudulin-2|hTSAP6|hpHyde|metalloreductase STEAP3|pHyde|six transmembrane prostate protein 3|six-transmembrane epithelial antigen of prostate 3|tumor suppressor pHyde|tumor suppressor-activated pathway protein 6 protein-coding 1347045 STEAP4 STEAP family member 4 1580863 19289123,18430367,18381574,16344560,15897894,12477932,11443137,19787193,20127040,20382686,20885390,21044749 79689 NM_024636,AC003991,CH236949,CH471091,CS237169,CS283337,CS300631,AF423422,AF423423,AK026806,AK027807,AK307644,AL832955,AL833044,AL833671,BC020600,CR601647,DA977808 NP_078912,EAW76906,EAW76907,CAJ55791,CAJ90615,CAK32295,AAQ04063,AAQ04064,BAB15559,CAH56271,AAH20600,Q687X5 Hs.521008 DKFZp666D049|FLJ23153|STAMP2|TIARP|TNFAIP9 metalloreductase STEAP4|six transmembrane prostate protein 2|six-transmembrane epithelial antigen of prostate 4|sixTransMembrane protein of prostate 2|tumor necrosis factor, alpha-induced protein 9|tumor necrosis-alpha-induced adipose-related protein protein-coding 1346905 STGD4 Stargardt disease 4 (autosomal dominant) 10205271 9634 1604195 STH saitohin 18850062,18509094,18396294,18307033,18300012,16909000,16603077,16186110,15474313,15136700,12932819,12913211,12826738,12826737,12477932,12447938,12402275,12032355,7566098,20852909 246744 NM_001007532,AC010792,AC091628,AC217779,CR936218,AY179170,BC130319,BC130321 NP_001007533,AAO03577,AAI30320,AAI30322,Q8IWL8 Hs.661831 MAPTIT|MGC163191|MGC163193 microtubule-associated protein tau (MAPT) intronic transcript|saitohin protein-coding 1312720 STIL SCL/TAL1 interrupting locus This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8825637,19215732,18829525,18187418,17576815,17460775,17456584,16710414,16344560,16024801,15489334,15107824,14504110,12681356,12531481,12477932,12438740,12199779,11390401,10657125,9372240,8321044,2255914,2209547,2040693,1922059,1311214,20379614 6491 NM_001048166,NM_003035,NG_012126,AF349657,AF415166,AJ131016,AL135960,AL513322,CH471059,M74442,S63470,S63471,X57515,Y07540,Y07541,AA897748,AK098445,AK128406,AK307519,BC053615,BC126223,BC136432,BC144089,CR749851,DA754072,DB062487,M74558 NP_001041631,NP_003026,AAK51418,CAI19730,CAI19731,CAI19732,CAI19733,CAI13463,CAI13464,CAI13465,CAI13466,CAI13467,CAI13468,EAX06872,EAX06873,EAX06874,AAH53615,AAI26224,AAI44090,CAH18699,AAA60550,Q15468,Q5T0C6,Q5T0C7,Q5T0C9,Q5T0D0,Q7Z626,ADR83293 Hs.525198 DKFZp686O09161|MCPH7|SIL OTTHUMP00000009566|OTTHUMP00000009567|SCL-interrupting locus protein|TAL-1-interrupting locus protein protein-coding 1315668 STIM1 stromal interaction molecule 1 This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. 1580863 20679432,20562859,20808796,16005298,11463338,16208375,19433064,19433061,19420366,19327826,19307462,19287379,19260825,19249086,19189966,19185847,19182790,19171672,19107116,19088073,19052075,19019825,18995841,18854159,18845811,18843204,18832420,18802022,18778263,18768920,18644792,18635545,18569867,18542992,18506892,18448669,18430726,18420269,18403424,18337467,18326500,18250319,18249114,18190941,18187424,18166150,17925382,17702753,17684017,17517596,17486119,17360414,17299780,17298947,17283081,17224452,17218358,17158173,17081983,17045966,17020874,16987424,16966422,16906149,16870612,16860747,16807233,16766533,16733527,16537481,16263699,15866891,14582397,12754519,12477932,11983428,11004585,10575208,9377559,8921403,8707854,20194530,20436167,20375143,20629634,20929812,20534587,20587595,20876309,17905723,18029348,18484746,19111578,19272522,19332491,19403622,19429662,19447651,19487696,19506081,19622747,19626660,19631699,19632184,19694801,19706554,19754898,19765994,19843011,19881501,19897728,19906989,20073506,20736304,20926378 6786 NM_003156,AC015689,AC087441,AC090804,AC107970,CH471158,CQ834768,AK310510,AK314928,BC021300,BI820627,BM127091,CX873095,U52426,NG_016277 NP_003147,EAX02580,EAX02581,CAH05599,AAH21300,AAC51627,Q13586,ABM86435,ABW03792 Hs.501735 D11S4896E|GOK stromal interaction molecule 1 protein-coding 1312198 STIM2 stromal interaction molecule 2 This gene is a member of the stromal interaction molecule (STIM) family and likely arose, with related family member STIM1, from a common ancestral gene. It encodes a type 1 transmembrane protein whose function is currently unknown, but is a likely adhesion molecule with a role in early hematopoiesis. Alternative translation initiation from an AUG and a non-AUG (UUG) start site results in the production of two different isoforms. [provided by RefSeq] 1580863 20172609,20436167,11463338,16860747,19433064,19019825,18166150,18160041,17905723,16005298,15489334,15231748,14702039,12477932,11230166,10819331,8889548,1146333,18484746,19111578,19487696,20379614,20562859 57620 NM_020860,AC006928,AC106047,CH471069,AB040915,AF328905,AK023369,AK096846,AL136577,BC015659,BC043604,BC057231,BC136449,BC146661,BC152554,BC171766,BU741823,BX343313,NM_001169117,NM_001169118 NP_065911,EAW92853,EAW92854,EAW92855,BAA96006,AAK82337,BAB14545,BAG53377,CAB66512,AAH15659,AAH43604,AAH57231,AAI36450,AAI46662,AAI52555,AAI71766,Q05BJ5,Q9P246,NP_001162588,NP_001162589 Hs.726179 FLJ39527|KIAA1482 OTTHUMP00000123457|OTTHUMP00000123458|OTTHUMP00000216198|stromal interaction molecule 2 protein-coding 733337 STIP1 stress-induced-phosphoprotein 1 STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM] 1580863,2326084,4892102 19615732,19866486,20159553,20029029,17353931,1569099,16130169,19254810,18485364,18095154,17886292,17081983,16916647,16344560,16236267,16100115,15632128,15592455,15489334,14754904,14532270,12477932,12437126,12161444,12093732,11877417,11809754,10786835,10508479,9727490,9373149,9261129,9148915,8889548,8125298,1286667,9452498,12887926,19961430 2326084,4892102 10963 NM_006819,AP005668,CH471076,AK225736,AK291555,AK297319,BC002987,BC039299,BM679538,BT020010,BT020011,CR536512,DA781468,M86752 NP_006810,EAW74196,EAW74197,EAW74198,BAF84244,BAG59782,AAH02987,AAH39299,AAV38813,AAV38814,CAG38750,AAA58682,P31948,Q3ZCU9,ABM84221,ABW03547 Hs.337295 HOP|IEF-SSP-3521|P60|STI1|STI1L Hsp70/Hsp90-organizing protein|NY-REN-11 antigen|hsc70/Hsp90-organizing protein|renal carcinoma antigen NY-REN-11|stress-induced-phosphoprotein 1|transformation-sensitive protein IEF SSP 3521 protein-coding 733000 STK10 serine/threonine kinase 10 This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq] 1580863 19255442,17192257,16964243,16344560,16175573,15302935,14702039,12639966,12477932,11903060,10199912,20306291,20379614 6793 NM_005990,AC024561,AC092271,AC113342,CH471062,AB015718,AF119894,AI584023,AK022960,AK092814,AK307943,AK313350,AL133081,BC014413,BC070077,BI459912,CR607624,DA507768,DB068209 NP_005981,EAW61439,BAA35073,AAF69648,BAG51143,BAG36152,CAB61400,AAH70077,O94804,Q6NSK0,Q9P153 Hs.724453 LOK|PRO2729 lymphocyte-oriented kinase|serine/threonine-protein kinase 10 protein-coding 1318548 STK11 serine/threonine kinase 11 This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq] 2291943,2291945,2291947,2291944,2291948,2298556,1601391,1580863,1600678,1600691,1601389 20559149,20682687,20722467,10642527,10508479,10408777,10362809,10208439,9837816,9760200,9537235,9428765,9425897,8988175,8889548,12805220,17216128,19615099,19584313,19463221,19414597,19407487,19386264,19351817,19340305,19287990,19250387,19229701,19204826,19177591,19165201,19145097,19029933,18854318,18794113,18687677,18681789,18676680,18495044,18600394,18594528,18483235,18403917,18321849,18303014,18256292,18245474,18199157,18000088,17950019,17928927,17921699,17766436,17711506,17676035,17641416,17637250,17599048,17575127,17573348,17384680,17344591,17319781,17244606,17234589,17212587,17114342,17108107,17098823,17026623,17010524,16953221,16927138,16912160,16882735,16822578,16648371,16582077,16580634,16540748,16407837,16407220,16396636,16311241,16287113,15987703,15800014,15774015,15733851,15731909,15617552,15608654,15607222,15561763,15489334,15485651,15331174,15292028,15287029,15231735,15188174,15183188,15121768,15077168,14985505,14976552,14702039,14676191,14668798,14517248,14517247,14511408,14511394,12912948,12879020,12847291,12595760,12552571,12533684,12489981,12477932,12234250,12218179,12097271,11853558,11741830,11733352,11668633,11445556,11430832,11297520,20400510,20435009,20881644,20956321,21048031,18311138,20562859,20623358,20418665,20686846,20489196,20452353,20368693,20497868,20818976,20428811,10642499,16054041,16169070,17884763,18029348,19068194,19170196,19369417,19507030,19513107,19520843,19615732,19622832,19625176,19692168,19724060,19727776,19892943,19908348,20010869,20018878,20020146,20057966,20082862,20193846,20227367,20354225,20357370,20424326,20668229,20864035 2291943,2291945,2291947,2291944,2291948,2298556,1601391,1600678,1600691,1601389 6794 NM_000455,NG_007460,AC004221,AC011544,AF032986,AF055327,CH471139,AB209553,AF035625,AF217978,AJ844634,AK128518,AK314858,BC007981,BC019334,BM993274,BQ222023,BU174122,BU739451,EF644172,U63333 NP_000446,AAF97257,AAB97833,AAC15742,EAW69538,EAW69539,EAW69540,BAD92790,AAC39527,AAG17221,CAH59749,BAG37374,AAH07981,AAH19334,ABR45718,AAB05809,Q15831,Q59FA7,Q5ZEZ1,Q9HBS3,Q9NS52,ABM84158,ABM87560 Hs.515005 LKB1|PJS polarization-related protein LKB1|renal carcinoma antigen NY-REN-19|serine/threonine kinase 11 (peutz-jeghers syndrome)|serine/threonine-protein kinase 11|serine/threonine-protein kinase LKB1 protein-coding 1312841 STK11IP serine/threonine kinase 11 interacting protein 17521700,14702039,12477932,11741830,11572484 114790 NM_052902,AC009955,CH471063,AB067485,AF450267,AK091963,AK295609,AK296632,AK299894,AK300611,BC014114,BC034051 NP_443134,EAW70775,EAW70776,BAB67791,AAL49726,BAG58494,BAG59234,BAG61738,BAG62306,AAH14114,AAH34051,Q8N1F8,ABM81846,ABM84997 Hs.22410 KIAA1898|LIP1|LKB1IP|STK11IP1 LKB1 interacting protein|LKB1-interacting protein 1|OTTHUMP00000065428|STK11 interacting protein|serine/threonine kinase 11-interacting protein|serine/threonine-protein kinase 11-interacting protein protein-coding 1342506 STK16 serine/threonine kinase 16 1580863 19060904,9712705,16344560,16310770,15489334,15146197,14702039,12477932,11741987,10947953,10364453,9373149,8125298,16189514,17353931,16712791 8576 NM_001008910,NR_026909,AC068946,CH471063,AA741170,AB020739,AF060798,AF203910,AJ005791,AJ010872,AK096954,AK225392,AK225526,AK292694,AK298471,AK302182,AK310793,AL552406,AL565684,BC002618,BC007381,BC019915,BC053998,BT019585,CB111662,CN268850,CN268939,CR407675,CR598797,CR603103,CR618001,CR618122,CR622571,CR623144,DB190729,CR607103 EAW70714,EAW70715,EAW70716,EAW70717,BAB16311,AAC28337,AAG23728,CAA06700,CAA09387,BAF85383,BAG60683,BAG63548,AAH02618,AAH53998,AAV38392,CAG28603,O75716,ACE87420,ACE86734,NP_001008910 Hs.153003 FLJ39635|KRCT|MGC16211|MPSK|PKL12|TSF1 OTTHUMP00000205890|OTTHUMP00000205891|TGF-beta-stimulated factor 1|TSF-1|hPSK|myristoylated and palmitoylated serine/threonine-protein kinase|protein kinase PKL12|protein kinase expressed in day 12 fetal liver|serine/threonine-protein kinase 16 protein-coding 1346790 STK16P serine/threonine kinase 16 pseudogene 326107 NG_002530,AL591767 STK16P pseudo 1342550 STK17A serine/threonine kinase 17a This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq] 1580863 9786912,15489334,14702039,12853948,12690205,12477932,19730683,20677014 9263 AC005189,AC011738,AC093645,CH236951,CH471073,AB011420,AK097170,AW183478,BC023508,BC047696,BI461892,CR597510,CR599395,CR623604,NM_004760 Q86UI9,Q9NZ11,Q9UEE5,NP_004751,AAS02010,AAP22356,EAL24008,EAW94162,EAW94163,EAW94164,BAA34126,BAG53430,AAH23508,AAH47696,Q75MK4 Hs.709489 DRAK1 DAP kinase-related apoptosis-inducing protein kinase 1|death-associated protein kinase-related 1|serine/threonine kinase 17a (apoptosis-inducing)|serine/threonine-protein kinase 17A protein-coding 732463 STK17B serine/threonine kinase 17b 1580863 19730683,20379614,9786912,19638987,19542440,17182616,15489334,12477932,11481038 9262 HH961858,NM_004226,AC114760,CH471063,AB011421,AK312865,BC016040,BC052561,BM994696,CR542210,CR542225,CR593001,CR594594,CR607515,HA637634 CBX51402,NP_004217,AAY14982,EAW70122,BAA34127,BAG35717,AAH16040,CAG47006,CAG47021,O94768,Q53QE7,Q6FG83,Q6FG98,ABM83182,ABM86384,CAZ39539 Hs.88297 DRAK2 DAP kinase-related apoptosis-inducing protein kinase 2|death-associated protein kinase-related 2|serine/threonine kinase 17b (apoptosis-inducing)|serine/threonine-protein kinase 17B protein-coding 1347475 STK19 serine/threonine kinase 19 This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq] 1580863 14667819,9812991,15986447,14656967,14574404,12477932,9799600,8575831,8132574,8012361,1988494,19913121,20628086,19423540,19851445,20205591,20406964,20438785 8859 CR936924,NR_026717,NM_032454,NM_004197,NG_004658,NG_005163,NG_000013,AF019413,AL049547,AL645922,AL662849,AL844853,BX679671,CH471081,CR753822,CR753845,CR759782,L26261,U24578,X77474,AK302111,AK303438,AK307198,BC016916,BC110347,BC121128,BC121129,BC143833,CR602611,CR605584,L26260,X77386 NP_115830,NP_004188,AAB67976,CAB89303,CAB89304,CAQ09282,CAQ09283,CAI17468,CAI17470,CAI41867,CAI41868,CAM26064,CAM26065,EAX03566,EAX03567,EAX03568,CAM26056,CAM26057,CAQ10913,CAQ10914,CAQ07123,CAQ07124,AAA20120,AAA99716,CAA54622,CAA54623,BAG63491,BAG64486,AAI10348,AAI21129,AAI21130,AAI43834,AAA20122,CAA54565,P49842,Q5JP78 Hs.654371 D6S60|D6S60E|G11|HLA-RP1|MGC117388|RP1 MHC class III HLA-RP1|Nuclear serine/threonine protein kinase|nuclear serine/threonine protein kinase|serine/threonine-protein kinase 19 protein-coding 1352725 STK19P serine/threonine kinase 19 pseudogene 8132574,2431902,1988494 373159 NG_004658,AL645922,L26262,BX679671 RP2|bPG116M5.10 pseudo 1345827 STK24 serine/threonine kinase 24 (STE20 homolog, yeast) The yeast 'Sterile 20' gene (STE20) functions upstream of the mitogen-activated protein kinase (MAPK) cascade. In mammals, protein kinases related to STE20 can be divided into 2 subfamilies based on their structure and regulation. Members of the PAK subfamily (see PAK3; MIM 300142) contain a C-terminal catalytic domain and an N-terminal regulatory domain that has a CDC42 (MIM 116952)-binding domain. In contrast, members of the GCK subfamily (see MAP4K2; MIM 603166), also called the Sps1 subfamily, have an N-terminal catalytic domain and a C-terminal regulatory domain without a CDC42-binding domain. STK24 belongs to the GCK subfamily of STE20-like kinases (Zhou et al., 2000 [PubMed 10644707]).[supplied by OMIM] 1580863 17353931,9353338,19328558,19240061,18040775,17081983,17046825,16344560,16314523,16189514,15489334,15304321,12477932,12107159,11991713,10644707,18782753,19604147,19782762,20124694,20379614 8428 NM_003576,AL137249,AL356423,CH471085,AF024636,AF083420,AF339826,AK297583,AK299140,BC035578,NM_001032296,BC065378,BT019619,CR542227,CR594698,CR601729,CR607724,CR610999,CR615038,DA386652,DB479387 NP_001027467,NP_003567,CAI39452,CAI39453,CAI39455,CAI39456,CAI39457,CAI13113,CAI13114,CAI13115,EAX08985,EAX08986,EAX08987,AAB82560,AAD42039,BAG59972,BAG61192,AAH35578,AAH65378,AAV38425,CAG47023,Q5JV99,Q5U0E6,Q6FG81,Q6P0Y1,Q9Y6E0,ABM81838 Hs.508514,Hs.713712 MST-3|MST3|MST3B|STE20|STK3 OTTHUMP00000018594|STE20-like kinase 3|STE20-like kinase MST3|mammalian STE20-like protein kinase 3|serine/threonine kinase 24 (STE20 homolog, yeast)|serine/threonine-protein kinase 24|sterile 20-like kinase 3 protein-coding 1342524 STK25 serine/threonine kinase 25 (STE20 homolog, yeast) 1302435,729618,1580863 15037601,8887545,18364353,17253963,16189514,15815621,15489334,14702039,12477932,9160885,17353931,17657516,18782753,19615732,20592472,20098747 1302435,729618 10494 AC110299,CH471063,DQ093965,AK092161,AK291808,AK291947,AK297374,AK301214,AK302751,AK303719,BC007852,BC015793,BC091505,BT019961,CR614826,NM_006374,CR618964,CR621330,CR623111,D63780,X99325,CR936874,AK315966 NP_006365,AAY14683,EAW71265,EAW71266,AAY88740,BAG52488,BAF84497,BAF84636,BAG59817,BAG62789,BAG63964,BAG64697,AAH07852,AAH15793,AAH91505,AAV38764,BAA20420,CAA67700,O00506,Q5CZ67,Q96BA2,CAI59786,ABM84156,ABM87558,BAH14337 Hs.516807 DKFZp686J1430|SOK1|YSK1 OTTHUMP00000200205|SOK-1|Ste20, yeast homolog|serine/threonine kinase 25 (STE20 homolog, yeast)|serine/threonine kinase 25 (Ste20, yeast homolog)|serine/threonine-protein kinase 25|ste20-like kinase|ste20/oxidant stress response kinase 1|sterile 20 (oxidant stress response kinase 1; yeast Sps1/Ste20-related kinase 1)|sterile 20/oxidant stress-response kinase 1 protein-coding 732933 STK3 serine/threonine kinase 3 (STE20 homolog, yeast) Protein kinase activation is a frequent response of cells to treatment with growth factors, chemicals, heat shock, or apoptosis-inducing agents. This protein kinase activation presumably allows cells to resist unfavorable environmental conditions. The yeast 'sterile 20' (Ste20) kinase acts upstream of the mitogen-activated protein kinase (MAPK) cascade that is activated under a variety of stress conditions. MST2 was identified as a kinase that is activated by the proapoptotic agents straurosporine and FAS ligand (MIM 134638) (Taylor et al., 1996 [PubMed 8816758]; Lee et al., 2001 [PubMed 11278283]).[supplied by OMIM] 1580863 8566796,8816758,18640976,18362890,17889669,17538946,17081983,16930133,16510573,15688006,15618521,15489334,12554736,12477932,11964314,11278283,10840030,8816756,8274451,15075335,7665586,20562859,20231902,21076410,19327996,19525978,19822666,20086174,20145135,20212043 6788 NM_006281,AP002087,AP003355,AP003467,AP003551,CH471060,AK075229,AK131363,AK291837,AK307787,AK312660,BC010640,U26424,U60206,Z25422 NP_006272,EAW91781,BAC11487,BAG54769,BAF84526,AAH10640,AAC50386,AAB17261,CAA80909,Q13188,Q8NBU1 Hs.492333 FLJ90748|KRS1|MST2 MST-2|STE20-like kinase MST2|mammalian STE20-like protein kinase 2|serine/threonine kinase 3 (STE20 homolog, yeast)|serine/threonine kinase 3 (Ste20, yeast homolog)|serine/threonine-protein kinase 3|serine/threonine-protein kinase Krs-1 protein-coding 1606534 STK31 serine/threonine kinase 31 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 16344560,14702039,12853948,12477932,11279525,20379614 56164 NM_031414,NM_001122833,NM_032944,AC003087,AC008176,CH236948,CH471073,AF285599,AF332194,AK057271,AK057430,AK131214,AK292474,AK302689,BC033018,BC036476,BC047506,BC059374,DB065148,DB089624,DB095141,HC007316,HC044531 NP_113602,NP_001116305,NP_116562,AAS07416,EAL24249,EAL24250,EAW93805,EAW93806,AAK31978,AAK17193,BAB71405,BAG54753,BAF85163,BAG63918,AAH59374,Q75MZ9,Q96MA3,Q9BXU1,CBH19463,CBH30595 Hs.309767 FLJ16102|SGK396|TDRD8 OTTHUMP00000201935|OTTHUMP00000201936|serine/threonine-protein kinase 31|serine/threonine-protein kinase NYD-SPK|sugen kinase 396|tudor domain containing 8 protein-coding 1318050 STK32A serine/threonine kinase 32A 737633,1580863 16344560,15489334,15372022,14702039,12477932,12471243,19845895,20379614 737633 202374 NM_001112724,NM_145001,AC009189,AC011338,CH471062,AK094580,AK299099,AK315942,BC021666,DA110948,DA231845,DR006392,EB386256 NP_001106195,NP_659438,EAW61827,EAW61828,BAG52892,BAG61158,BAH14313,AAH21666,Q8WU08 Hs.585069 MGC22688|YANK1 A930015B13Rik|serine/threonine-protein kinase 32A protein-coding 1314640 STK32B serine/threonine kinase 32B 1302823 19240061,18454448,15489334,14702039,12975309,12477932,12471243,10700184,9847074,19389651,20087401,20379614 1302823 55351 AC004664,AC092665,AC096740,AC107395,CH471131,AJ250839,AK055597,AK292696,AK313846,AL832436,AY358353,BC020281,BC024977,BC038238,BC069203,NM_018401 NP_060871,EAW82416,EAW82417,CAB76471,BAF85385,BAG36575,CAH10653,AAQ88719,AAH38238,Q69YP0,Q9NY57,ABM92171,ABM84640 Hs.133062 HSA250839|STK32|STKG6|YANK2 OTTHUMP00000217008|OTTHUMP00000217010|gene for serine/threonine protein kinase|serine/threonine-protein kinase 32B protein-coding 1314150 STK32C serine/threonine kinase 32C The protein encoded by this gene is a member of the serine/threonine protein kinase family. The specific function of this kinase is not known. [provided by RefSeq] 1580863 20580033,15164054,12477932,12471243,15489334,20936779 282974 NM_173575,AL451056,AL512622,AL590105,CH471066,AK057849,AK098366,AK302102,AK308956,AK310725,AY098866,BC015792,BC045760,CR595271 NP_775846,CAI12181,CAI12187,CAI13011,EAW49126,EAW49127,EAW49128,EAW49129,BAH13627,AAM21719,AAH15792,AAH45760,Q86UX6,CAI12184 Hs.469002 MGC23665|PKE|RP11-140A10.1|YANK3 OTTHUMP00000020764|PKE protein kinase|protein kinase (PKE)|serine/threonine-protein kinase 32C protein-coding 1315072 STK33 serine/threonine kinase 33 20816195,19079261,16176263,15489334,14702039,12477932,11738831,11528127,20935630,18029348,20571754 65975 NM_030906,AC104360,AC105357,AP006442,CH471064,AJ303380,AK092720,AK093251,AK122808,AK293193,AK310754,AL833011,BC031231,BG722074 NP_112168,EAW68623,EAW68624,EAW68625,CAC29064,BAG52601,BAC04109,BAG56733,CAH56302,AAH31231,Q9BYT3,ABM82443,ABW03415 Hs.501833 OTTHUMP00000178935|OTTHUMP00000178936|OTTHUMP00000208016|serine/threonine-protein kinase 33 protein-coding 2303326 STK33P serine/threonine kinase 33 pseudogene 553118 NG_009480,AL451132 STK33P|STK33ps pseudo 1321037 STK35 serine/threonine kinase 35 The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq] 1580863 15761153,15489334,14702039,12477932,11973348,11780052,19756140 140901 NM_080836,AL359916,CH471133,AF195026,AK024394,AK026555,AK302629,AK314728,AL040176,BC017340,BC111573,BC140883,BC140884,CR599328,CR606731,GQ281297 NP_543026,CAI15590,EAX10603,AAL99353,BAG63871,BAG37270,AAH17340,AAI11574,AAI40884,AAI40885,Q8TDR2,ACU33925 Hs.100057 CLIK1|STK35L1 CLIK-1|CLP-36 interacting kinase|CLP-36-interacting kinase 1|OTTHUMP00000030006|OTTHUMP00000221578|PDLIM1-interacting kinase 1|serine threonine kinase 35 long form|serine/threonine-protein kinase 35|serine/threonine-protein kinase 35 L1 protein-coding 1316442 STK36 serine/threonine kinase 36, fused homolog (Drosophila) 18029348,16344560,10806483,15489334,15268766,14702039,12477932,12421765,10574462,9557739,17353931 27148 AA992176,DB062910,NM_015690,AC009974,CH471063,AB033104,AF200815,AK022692,AL133630,BC026158,CR595890 NP_056505,EAW70647,EAW70648,EAW70649,EAW70650,BAA86592,AAF97028,BAB14184,CAB63754,AAH26158,Q9NRP7,ABM82665,ABM85842 Hs.712986,Hs.471404 DKFZp434N0223|FU|KIAA1278 fused homolog|serine/threonine kinase 36, fused homolog|serine/threonine-protein kinase 36 protein-coding 1319806 STK38 serine/threonine kinase 38 1580863 18362890,12493777,15197186,17620599,7761441,19377461,19062280,19058789,17317633,16135814,15670829,15582665,15489334,15324660,15067004,14661952,14574404,12477932,9774336,9647638,20624913,16884686,17906693,19327996 11329 NM_007271,CH471081,CQ826789,Z85986,AF034188,AK312559,BC012085,BC095413,CR592775,Z35102 NP_009202,EAX03894,EAX03895,EAX03896,CAG44584,CAB39180,AAD50530,BAG35456,AAH12085,AAH95413,CAA84485,Q15208,Q9UPD3,ACE87449,ACE86762 Hs.409578 NDR|NDR1 NDR1 protein kinase|Ndr Ser/Thr kinase-like protein|nuclear Dbf2-related 1|nuclear Dbf2-related kinase 1|serine threonine protein kinase|serine/threonine-protein kinase 38 protein-coding 1353936 STK38L serine/threonine kinase 38 like 1580863 15067004,15197186,15037617,19240061,19062280,16488889,16314523,15582665,15489334,15324660,12477932,12168954,10231032,8889548,17353931 23012 NM_015000,AC092827,AC092829,CH471094,CQ826791,AB023182,AK291055,AK303373,AK304755,AK304862,BC014782,BC028603,BU681056,BX390969,CR602115,CR606717 NP_055815,EAW96549,EAW96550,EAW96551,CAG44599,BAA76809,BAF83744,BAH13952,BAG65510,BAG65600,AAH28603,Q9Y2H1,ABM82425,ABM85617 Hs.184523 KIAA0965|NDR2 NDR2 protein kinase|nuclear Dbf2-related 2|nuclear Dbf2-related kinase 2|serine/threonine-protein kinase 38-like protein-coding 734214 STK39 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq] 727300,1580863 20555294,10980603,19470686,19414679,19343169,19114657,18787102,18550547,18348195,18270262,17321610,17081983,16964243,16950202,16669787,16263722,14702039,14563843,12740379,11514053,20442269,12386165,15930150,16530727,19717643,20003416,20379614,20889219 727300 27347 AC016723,AC017069,AC067940,BX648046,CH471058,DQ537524,AF017635,AF030403,AF099989,AK126343,NM_013233,BC146813,BF516344,BX647113 NP_037365,AAY15003,AAY14897,AAY24032,EAX11304,ABG34553,AAB70552,AAD01901,AAC72238,Q6E0B2,Q9UEW8,AAI66614 Hs.276271 DCHT|DKFZp686K05124|PASK|SPAK STE20/SPS1 homolog|STE20/SPS1-related proline-alanine-rich protein kinase|Ste20-like protein kinase|proline-alanine-rich STE20-related kinase|serine threonine kinase 39 (STE20/SPS1 homolog, yeast)|serine/threonine-protein kinase 39|small intestine SPAK-like kinase|ste-20-related kinase protein-coding 1323808 STK4 serine/threonine kinase 4 The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq] 1580863 20562859,8566796,11805089,16751106,15109305,7665586,8816758,19062280,18986304,17932490,17726016,17538946,17192257,16930133,16510573,15688006,15489334,15345747,15157167,15075335,12942774,12757711,12477932,12384512,12223493,11964314,11864565,11780052,11278782,11278283,9545236,8125298,2902784,1655021,8889548,8702870,11517310,9373149,8274451,16892067,18029348,18510339,19596235,19822666,19940129,19962960,20379614 6789 NM_006282,AL109839,CH471077,Z93016,AB209315,AK027088,AK225326,AK309169,AK315238,AL597960,BC005231,BC015332,BC029511,BC038850,BC039023,BC042861,BC058916,BC065215,BC093768,BM450795,BM455776,BM459914,BQ216721,BQ434275,BU153393,BU429479,BU633556,BU689980,BU902081,CR933633,U18297,U60207,Z25430 NP_006273,CAI95633,CAI95634,EAW75882,EAW75883,CAB07508,CAI19815,BAD92552,BAG37665,AAH05231,AAH15332,AAH29511,AAH58916,AAH93768,CAI45939,AAA83254,AAB17262,CAA80917,Q13043,Q15452,Q59FZ4,Q5H9T5,Q9BS84 Hs.472838 DKFZp686A2068|KRS2|MST1|YSK3 MST-1|OTTHUMP00000063226|STE20-like kinase MST1|dJ211D12.2 (serine/threonine kinase 4 (MST1, KRS2))|kinase responsive to stress 2|mammalian STE20-like protein kinase 1|mammalian sterile 20-like 1|serine/threonine-protein kinase 4|serine/threonine-protein kinase Krs-2|yeast Ste20-like protein-coding 1605028 STK40 serine/threonine kinase 40 18029348,16710414,16381901,15489336,15489334,14702039,13679039,12477932,11230166,11076863,16169070 83931 NM_032017,AC119675,AL591845,CH471059,CQ834750,AK000808,AK024504,AK075029,AK075048,AK131560,AL834137,AY198395,BC005169,BC007835,BC008344,CR599574,CR606169 NP_114406,CAH71862,CAH71863,CAH71864,EAX07368,EAX07369,EAX07370,EAX07371,EAX07372,EAX07373,CAH05590,BAB15794,BAC11361,BAC11371,BAD18694,CAD38852,AAP20040,AAH05169,AAH07835,AAH08344,Q8N2I9,CAL37398,CAL37413,CAL37475,CAL37648,CAL37730,CAL37831,CAL37847,CAL38152 Hs.471768 MGC4796|RP11-268J15.4|SHIK|SgK495 2310004N11Rik|OTTHUMP00000009949|SINK-homologous serine/threonine-protein kinase|Ser/Thr-like kinase|serine/threonine-protein kinase 40|sugen kinase 495 protein-coding 68960 STMN1 stathmin 1 This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 15652749,2917975,8003023,10675326,9880330,9271428,11256614,19569914,19526456,19179443,19048596,19034510,19017487,19012073,18718898,18613117,18555017,18461287,18434595,18305103,18262179,18054374,17874182,17663418,17472732,17455228,17440165,17081983,17029844,17012855,16964243,16909102,16757134,16713569,16710414,16624860,16554300,16495930,16427064,16381901,16258287,16094384,15659612,15489336,15489334,14702039,12860982,12763137,12676564,12644570,12477932,12372625,12242154,11922601,11870780,11771751,11572331,11415983,11181995,11135364,11076863,10702243,10197448,9788875,8906359,8376365,8325880,8245003,8125092,8002936,7821789,7724523,2760073,2358074,2278968,1957351,1917919,1737801,1445213,12858178,20675373,16401721,16548883,18563556,19449284,19556289,19779961,20058236,20087351,20110360,20204289,20385220,20399773,20468064,20946355,20806969,18666697,20819663 3925 CR624295,CR624339,D28428,J04991,X53305,Z11566,CR623446,NM_001145454,NM_203399,NM_005563,NM_203401,AL033528,CH471059,M31303,X94912,AB209282,AB451319,AB451448,AK054594,AK056768,AK303692,AK311801,AV714035,BC014353,BC023313,BC028398,BC082228,BC114443,BC114502,BF686314,BG030679,BG493669,BM563894,BQ428400,BQ772197,BX647885,CR591243,CR594842,CR598275,CR598511,CR600289,CR600348,CR601048,CR603270,CR604124,CR604588,CR606851,CR607598,CR607751,CR609472,CR609837,CR611531,CR611894,CR612036,CR615051,CR615576,CR617871,CR618293,CR618325,CR620720,CR622069,CR622594,CR623150 BAA05794,AAA59980,CAA37391,CAA77660,P16949,Q14CA7,Q59G27,Q96CE4,CAL37732,NP_001138926,NP_981944,NP_005554,NP_981946,CAC16020,CAM12864,CAM12865,EAX07854,EAX07855,EAX07856,EAX07857,EAX07858,EAX07859,EAX07860,EAX07861,AAA59971,CAA64398,BAD92519,BAG70133,BAG70262,BAH14020,BAG34744,AAH14353,AAH82228,AAI14444,AAI14503,BAB71277 Hs.209983 C1orf215|FLJ32206|LAP18|Lag|MGC138869|MGC138870|OP18|PP17|PP19|PR22|SMN OTTHUMP00000008529|OTTHUMP00000008531|leukemia-associated phosphoprotein p18|metablastin|oncoprotein 18|phosphoprotein 19|phosphoprotein p19|prosolin|stathmin|stathmin 1|stathmin 1/oncoprotein 18|transmembrane protein C1orf215 protein-coding 69000 STMN2 stathmin-like 2 Superior cervical ganglion-10 is a neuronal growth-associated protein that shares significant amino acid sequence similarity with the phosphoprotein stathmin (MIM 151442).[supplied by OMIM] 737642,1580863 16189514,18996843,18611392,18549247,18452648,18076368,17311410,16712787,16169070,15489334,14702039,12858178,12477932,12140291,11882662,11718727,10947801,9525956,9126608,9030585,8622778,15035981,19959466,20621975,20802173,20883670,19081515,11278715,11830198,15200951,18570921,7871435 737642 11075 CR606122,CR607233,CR608911,CR609968,CR610743,CR611375,CR612959,CR614957,CR616668,CR618208,CR618531,CR618733,CR619618,CR621424,CR623788,D50375,S82024,AC016240,AC025599,CH471068,AK091336,AK292737,AK299500,AK308557,AK309130,AL110174,BC006302,BT020034,CR456833,CR591212,CR593049,CR595801,CR597913,CR598266,CR599871,CR602351,CR605650,NM_007029,AI096716,BQ069488,DC319376,NM_001199214,AK297594,AK297485,CR591448,CR607906,CR609420 BAA23326,AAB36428,Q93045,ABM83645,ABM86894,NP_008960,EAW87063,EAW87064,EAW87065,BAF85426,BAH13053,AAH06302,AAV38837,CAG33114,NP_001186143,BAH12622,BAH12589 Hs.521651 FLJ34868|FLJ50995|SCG10|SCGN10|SGC10 neuron-specific growth-associated protein|neuronal growth-associated protein (silencer element)|stathmin-2|superior cervical ganglia, neural specific 10|superior cervical ganglion-10 protein protein-coding 69018 STMN3 stathmin-like 3 The protein encoded by this gene belongs to the stathmin/oncoprotein 18 family of microtubule-destabilizing phosphoproteins. It is similar to the SCG10 protein and is involved in signal transduction and regulation of microtubule dynamics. [provided by RefSeq] 69977,1580863 9603203,18549247,15489334,14702039,12676564,12477932,11780052,11278715,10655513,9788875,12858178,16169070,19824884 69977 50861 NM_015894,AF217796,AL353715,CH471077,AF069709,AF069710,AK074860,AK094112,AK131326,AK298903,AK310010,BC009381,BC025234,BC032527,BC047671,BC056873,CR592669,CR595816,CR598044,CR599947,CR602846,CR604904,CR610697,CR612260,CR614160,CR614165,CR623033 NP_056978,AAF35245,CAC16222,EAW75249,EAW75250,AAD12730,BAC11252,BAG52817,BAH12900,AAH09381,AAH25234,Q8NCA8,Q9NZ72,ABM84047,ABM87396 Hs.639609 SCLIP SCG10-like protein|SCG10-like-protein|stathmin-3 protein-coding 733859 STMN4 stathmin-like 4 1580863 15489334,12676564,12477932,11230166,9788875,9373149,8125298,16169070,12858178 81551 NM_030795,AC090150,CH471080,AJ303455,AK225142,AK294023,AK295329,AK297415,AK309207,AL136568,BC011520,BC111001,CR591479 NP_110422,EAW63562,EAW63563,EAW63564,EAW63565,EAW63566,EAW63567,CAC22254,BAH11650,BAH12033,BAH12575,CAB66503,AAH11520,AAI11002,Q9H169,ABM81966,ABM85145 Hs.201058 MGC111012|RB3 stathmin-4|stathmin-like protein B3|stathmin-like-protein RB3 protein-coding 1349002 STN statin 3902853 1177 1344779 STNL statin-like 6669 1312947 STOM stomatin 1580863 20583170,17353931,9642292,18029348,1547348,12130500,18267007,18067507,17961506,17081065,16766530,16344560,15489334,15471860,15164053,15121101,12750157,12643545,12477932,12429719,10562431,10338112,9512664,9243190,9147127,8825639,8500356,8373790,7592848,1883838,20858460,19696025 2040 AK307999,AL040491,AU137947,BC010703,BI763647,BM451470,BM925356,CA447945,CR542100,CR623514,M81635,X60067,NM_004099,NM_198194,AL161784,AL359644,CH471090,U33931,X85116,AK302977,AK304449,AK304518,GN344119,GN344121 BAG65322,AAH10703,CAG46897,AAA58432,CAA42671,P27105,ABM81984,ABM85162,NP_004090,NP_937837,CAH72706,CAH72707,CAH70728,CAH70729,EAW87493,EAW87494,AAC50296,CAA59436,BAG64120,BAG65267,CAY55995,CAY55996 Hs.253903 BND7|EPB7|EPB72 erythrocyte band 7 integral membrane protein|erythrocyte membrane protein band 7.2 (stomatin)|protein 7.2b protein-coding 1347763 STOML1 stomatin (EPB72)-like 1 1580863 14702039,12477932,10997330,9931417,9373149,8125298,15471860,16303743,15489334,19696025 9399 NM_004809,AC108137,AF156564,CH471082,CQ783352,AF074953,AF111800,AF156557,AK075244,AK091531,AK093689,AK222665,AK300799,AK302051,AL109664,AL109665,BC034379,BC065249,CR542089,CR595587,CR610605,DQ064605,Y16522 NP_004800,AAF23080,EAW77940,EAW77941,EAW77942,EAW77943,EAW77944,EAW77945,CAF86558,AAD42031,AAL39002,AAF06960,BAG52092,BAD96385,BAG62457,BAG63441,CAB52015,CAB52016,AAH34379,AAH65249,CAG46886,AAY68393,CAA76271,Q4PNR4,Q53HB6,Q9UBI4 Hs.194816 FLJ36370|SLP-1|STORP|hUNC-24 EPB72-like protein 1|protein unc-24 homolog|stomatin (EBP72)-like 1|stomatin-like 1|stomatin-like protein 1|stomatin-related protein protein-coding 1317972 STOML2 stomatin (EPB72)-like 2 8125298,10713127,18641330,18267007,17709317,17342323,17121834,16671055,16533792,16236267,15592455,15489334,15164053,14702039,12477932,11435687,11042152,9373149,19767238,19839737,19944461,20877624 30968 AC004472,AL353795,CH471071,CQ815083,CQ834374,AF161458,AF190167,AF282596,AK027405,AK130546,AK223102,AK225114,AK303883,AK307343,BC002442,NM_013442,BC003025,BC010152,BC014990,CR590084,CR591719,CR592181,CR594962,CR598276,CR604597,CR608510,CR610520,CR612088,CR614697,CR625020 NP_038470,AAC07983,CAH70998,EAW58394,EAW58395,EAW58396,CAG30023,CAH05402,AAF29073,AAF09142,AAF91466,BAB55091,BAC85377,BAD96822,BAG64819,AAH02442,AAH03025,AAH10152,AAH14990,Q6ZNW0,Q9UJZ1,ABM83603,ABM86846 Hs.3439 HSPC108|SLP-2 EPB72-like protein 2|stomatin-like 2|stomatin-like protein 2 protein-coding 1322361 STOML3 stomatin (EPB72)-like 3 1580863 15489334,15057823,12477932,12122055,20694148,16344560,8889548 161003 NM_145286,AL445590,CH471075,CQ815089,AK313632,BC025760,AK304159,BM982114,DB200356,NM_001144033 NP_660329,CAI40973,EAX08609,CAG30025,BAG36391,AAH25760,Q8TAV4,ABM82602,ABW03405,BAG65047,NP_001137505 Hs.327794 Epb7.2l|SRO SLP-3|erythrocyte band 7 integral membrane protein|protein 7.2B|stomatin-like protein 3 protein-coding 1602494 STON1 stonin 1 Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Co-transcription of this gene and the neighboring downstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq] 11454741,18029348,14702039,14504226,12477932,11381094,11159353,10364255,16344560,19732400,8889548 11037 NM_006873,AC073082,AL080210,AF255310,AK023617,AK314464,AL700433,AL703296,AY026319,BC121063,BC121064,CR604481,CR936807,BM974074,DB288942,NM_001198595 NP_006864,AAK57559,BAG37072,AAK11719,AAI21064,AAI21065,Q0VAG7,Q0VAG8,Q9Y6Q2,AAI66659,NP_001185524 Hs.44385 DKFZp781K2462|FLJ95267|MGC149803|MGC149804|SBLF|STN1|STNB1|stoned-b1 OTTHUMP00000201057|OTTHUMP00000201058|stoned B homolog 1|stoned B-like factor|stoned-b1|stonin-1 protein-coding 1604956 STON1-GTF2A1L STON1-GTF2A1L readthrough transcript The STON1-GTF2A1L mRNA is an infrequent but naturally occurring co-transcribed product of the neighboring STON1 and GTF2A1L genes. This rare transcript encodes a fusion protein composed of greater than 95% each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. The significance of this co-transcribed mRNA and the function of its protein product have not yet been determined. [provided by RefSeq] 20967262,12477932,11454741,11381094,11159353,10364255,11329013 286749 NM_172311,AC073082,AF026169,BG191372,BX091338,NM_001198593,NM_001198594 NP_758515,AAY15064,AAD39617,Q3MIM1,Q53S48,NP_001185522,NP_001185523 Hs.44385 MGC126821|MGC126823|SALF OTTHUMP00000159452|OTTHUMP00000200508|OTTHUMP00000201180|STON1-GTF2A1L protein|stoned B/TFIIA alpha/beta like factor|stoned B/TFIIA-alpha/beta-like factor protein-coding 1604566 STON2 stonin 2 Endocytosis of cell surface proteins requires a dynamic complex of proteins that assemble on the inner surface of the plasma membrane. Stonin-2 is a component of the endocytic machinery that likely regulates vesicle endocytosis.[supplied by OMIM] 11454741,14726597,18029348,18166656,16459302,15489334,12508121,12477932,11381094 85439 NM_033104,AL121769,AL136040,CH471061,AB208948,AF380833,AF449430,BC069359,BC069389,BC069502,BC069587,BC117493,BC117495,AF255309 NP_149095,EAW81340,EAW81341,BAD92185,AAK57558,AAK76362,AAL47008,AAH69359,AAH69389,AAH69502,AAH69587,AAI17494,AAI17496,Q17R23,Q59H11,Q6NT15,Q6NT31,Q6NT53,Q8WXE9,ADR83419 Hs.14248 STN2|STNB|STNB2 homolog of stoned B|stoned B homolog 2|stonin-2 protein-coding 1350004 STOT salt tolerator 6798 1321633 STOX1 storkhead box 1 19577309,20110611,19079545,17617193,17290274,16344560,15806103,15489334,15164054,14702039,12477932,20400461 219736 NG_012975,NM_001130159,NM_001130160,NM_001130161,NM_001130162,AL359844,AL391539,CH471083,DQ099680,AK057864,AK057891,AK124681,AK127878,AW086180,AY842014,AY842015,AY842016,AY842017,BC063627,NM_152709,BC140011,DA118241 NP_689922,NP_001123631,NP_001123632,NP_001123633,NP_001123634,CAQ07951,CAQ07952,CAQ07953,CAQ08406,CAQ08407,CAQ08408,EAW54303,AAZ07992,BAB71600,BAB71607,BAC85925,BAC87173,AAW48524,AAW48525,AAW48526,AAW48527,AAH63627,AAI40012,Q6ZVD7,AAI68379 Hs.37636 C10orf24|PEE4 chromosome 10 open reading frame 24|storkhead-box protein 1|winged-helix domain-containing protein protein-coding 1601982 STOX2 storkhead box 2 14702039,12477932,10718198,20379614 56977 NM_020225,AC074194,CH471056,AB037813,AK001394,AK289840,AL390216,AL512713,BC146754 NP_064610,EAX04684,BAA92630,BAF82529,CAB99230,AAI46755,Q9P2F5 Hs.21958,Hs.696657 DKFZp762K222 storkhead-box protein 2 protein-coding 1349037 STRA13 stimulated by retinoic acid 13 homolog (mouse) 737633 12477932,8839844,15719173,15994878,11278694,17347673,19620631,19679564,20416077,20347429,16712791 737633 201254 NM_144998,AC137723,BC009571,BC011610,BI837753,CB110145,U95006,U95007 NP_659435,AAH09571,AAH11610,AAB53638,AAB53639,A8MT69,ABM84015,ABM87360 Hs.37616 CENP-X|MGC14480|MHF2 FANCM-interacting histone fold protein 2|Fanconi anemia-associated polypeptide of 10 kDa|centromere protein X|retinoic acid-inducible gene D9 protein homolog|stimulated by retinoic acid gene 13 protein homolog protein-coding 1347443 STRA6 stimulated by retinoic acid gene 6 homolog (mouse) The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq] 20625434,11358845,20379614,11256614,19309693,19213032,19112531,18387951,18316031,17503335,17273977,16344560,14702039,12975309,12477932,9203140,16712791 64220 NM_001199040,NM_001199041,NM_001199042,BX537413,CB131492,DA700543,DA746408,NM_001142619,NM_001142618,NM_022369,NM_001142620,NG_009207,AC023545,CH471136,AF352728,AF352729,AF370419,AK022603,AK056125,AK091152,AK092227,AK291966,AK298921,AK298928,AK299191,AK302932,AK309676,AK310878,AY358748,AY359089,BC015881,NM_001142617,BC025256 NP_001185969,NP_001185970,NP_001185971,AAH25256,CAD97655,Q9BX79,NP_001136089,NP_001136091,NP_001136090,NP_071764,NP_001136092,EAW99353,EAW99354,EAW99355,EAW99356,AAK30289,AAK30290,AAQ15255,BAB14122,BAG51630,BAG52293,BAG52498,BAF84655,BAH12903,BAH12904,BAH12965,BAH13848,AAQ89108,AAQ89447,AAH15881 Hs.24553 FLJ12541|MCOPS9|PP14296 stimulated by retinoic acid gene 6 protein homolog protein-coding 1604701 STRA8 stimulated by retinoic acid gene 8 homolog (mouse) 12690205,12489526,20378615,18316326,18799751,19369649,19734913,20088251,20670969 346673 NM_182489,AC009542,CH236950,CH471070,AF513502 NP_872295,EAL24061,EAW83846,AAP47163,Q7Z7C7,AAI41428,BAG73764 Hs.592279 stimulated by retinoic acid gene 8 protein homolog protein-coding 1606991 STRADA STE20-related kinase adaptor alpha 1600678 12805220,19386264,18854318,18687677,18391951,18256292,17921699,15561763,15183188,14976552,14730349,14702039,14517248,12747765,12477932,16054041,19513107,19892943,20424326,20562859 1600678 92335 NM_001003788,NM_001003787,NM_153335,NM_001003786,AC015651,AC046185,CH471109,CQ782708,AF308302,AK074771,AK075005,AK128173,AK293160,AK301331,AL832407,AY290821,BC043641,BG339051,BK001542,CR593241,CR601269,CR601658,BQ682133,NG_015817,NM_001165969,NM_001165970 NP_001003788,NP_001003787,NP_699166,NP_001003786,EAW94283,EAW94284,EAW94285,EAW94286,EAW94287,EAW94288,EAW94289,EAW94290,CAF85943,AAG48269,BAC11197,BAC11349,BAG56704,BAG62879,CAI46194,AAP42280,AAH43641,DAA01797,Q5JPI2,Q7RTN6,Q86YC8,NP_001159441,NP_001159442 Hs.514402 FLJ90524|LYK5|NY-BR-96|PMSE|STRAD|Stlk STE20-like pseudokinase|STE20-related adapter protein|STE20-related adaptor protein|STE20-related kinase adapter protein alpha|STRAD alpha|protein kinase LYK5|serologically defined breast cancer antigen NY-BR-96 protein-coding 1350818 STRADB STE20-related kinase adaptor beta This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. [provided by RefSeq] 1580863 20562859,14676191,14517248,16879967,16756488,15815621,15489334,14702039,14511394,12574163,12477932,12048196,11161814,16054041 55437 NM_018571,AC007282,CH471063,AB038950,AK024720,AK027637,AK290457,AY093697,BC008302,BC090871,W74591 NP_061041,AAY14692,EAW70273,EAW70274,EAW70275,EAW70276,BAB32500,BAB55254,BAF83146,AAM19143,AAH08302,AAH90871,Q9C0K7,ABM84614,ABM84615,ABM87518,ABM87864,ABW03586,ABW03587 Hs.652338 ALS2CR2|CALS-21|ILPIP|ILPIPA|MGC102916|PAPK|PRO1038 ILP-interacting protein ILPIPA|OTTHUMP00000206614|STE20-related kinase adapter protein beta|STRAD beta|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein|pseudokinase ALS2CR2 protein-coding 4144673 STRADBP1 STE20-related kinase adaptor beta pseudogene 1 12690205,9847074 389599 AACC02000108,AC092025,NG_005932 EAL24480 ALS2CR2P1|STLK6ps1 pseudo 1322398 STRAP serine/threonine kinase receptor associated protein 1581429 18029348,17353931,17984321,17316412,17314099,17023415,16344560,16251192,16236267,16159890,15848170,15761153,15489334,12477932,11355021,11230166,11042152,10757800,10646843,10049359,9856985,12975319,15761148,16014633,16169070,18833288,19880523,20144149 1581429 11171 AC022073,CH471094,AB024327,AF161496,AJ010025,AK297942,AK312295,AK315891,AL136691,AY049776,BC000162,NM_007178,BC062306,BT020044,BT020045,CR592904,CR593028,CR595037,CR595576,CR596508,CR605637,CR609426,CR612761,CR613505,CR614164,CR614508,CR618413,CR622806,CR623175,CR623249,CR623562,DA666505 NP_009109,EAW96356,BAA75544,AAF29111,CAB38041,BAG60258,BAG35222,BAF98782,CAB66626,AAL15433,AAH00162,AAH62306,AAV38847,AAV38848,Q9Y3F4,ABM81877,ABM85039 Hs.504895 MAWD|PT-WD|UNRIP MAP activator with WD repeats|WD-40 repeat protein PT-WD|serine-threonine kinase receptor-associated protein|unr-interacting protein protein-coding 1352738 STRBP spermatid perinuclear RNA binding protein 1580863 11256614,16381901,16189514,15489336,15489334,15164053,14702039,12477932,11336498,11230166,11076863,10684936,9674995,7744952,7519613 55342 NM_018387,AL365338,AL365504,CH471090,AF333337,AI986141,AK002169,AK024285,AK027890,AL136866,AL833947,AL834150,BC002693,BC017732,BC108731,CR596677,CR621060,AI699420,AK025613,NM_001171137,NR_033234 NP_060857,CAH70299,CAH70300,EAW87563,EAW87564,EAW87565,EAW87566,AAK20832,BAA92120,BAB14873,BAB55434,CAB66800,CAI46213,CAI46219,AAH02693,AAH17732,AAI08732,Q5JPA5,Q96SI9,CAL37906,NP_001164608 Hs.287659,Hs.694157 DKFZp434N214|FLJ11307|FLJ14223|FLJ14984|FLJ21960|ILF3L|MGC21529|MGC3405|SPNR|p74 OTTHUMP00000022084|OTTHUMP00000022085|interleukin enhancer binding factor 3-like|spermatid perinuclear RNA-binding protein protein-coding 1344167 STRC stereocilin This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq] 1580863,1599186 14702039,12477932,12445334,12324385,11687802,10090914,9429146,16572171 1599186 161497 NM_153700,NG_005156,NG_011636,AC011330,CH471308,AK090757,AK122814,AK124582,AK126721,AK296993,AK308370,BC129931,BC129932,BK000138 NP_714544,EAW50803,BAG59532,AAI29932,AAI29933,DAA00085,Q7RTU9 Hs.657395,Hs.679467 DFNB16|MGC156147 stereocilin protein-coding 2290508 STRCP stereocilin pseudogene 12825070 554225 NG_005156,AC011330,AC018512 A6NGW2 STRCP pseudo 1342557 STRM striamin 337940 AF031663 736385 STRN striatin, calmodulin binding protein 70027,2311293,1580863 9693043,19165527,19023099,18571342,17975119,15815621,15569929,15489334,15231748,12477932,12153137,11707266,10681496,8769426,18782753,17353931,10748158,17540176,18029348,18502210,19615732,21076409 70027,2311293 6801 NM_003162,AC007382,AC007404,CH471053,AJ223814,AK026934,AK307836,BC015406,BC036416,BC106878,BC106879 NP_003153,AAF66162,AAY24273,EAX00414,CAA11560,AAI06879,AAI06880,O43815,Q3B874 Hs.656726 MGC125642|SG2NA striatin|striatin, calmodulin-binding protein protein-coding 737101 STRN3 striatin, calmodulin binding protein 3 1580863 10748158,7910562,18029348,16964243,16396496,16344560,15302935,12477932,11319234,10681496,7864889,18782753,17353931,11251078,11570823,17540176,18434427,18502210,19615732 29966 NM_001083893,AL049830,AL121808,CH471078,AA572712,AF243424,AK290229,AK314041,AW070834,BC126221,BC132673,BC143933,BG572065,BM453981,NM_014574,CA774504,DA854600,U17989 NP_055389,NP_001077362,EAW65959,EAW65960,EAW65961,AAF81201,BAF82918,BAG36750,AAI26222,AAI32674,AAB81551,A0AV58,Q13033 Hs.401843 SG2NA cell cycle S/G2 nuclear autoantigen|cell cycle autoantigen SG2NA|nuclear autoantigen|s/G2 antigen|striatin-3 protein-coding 1315983 STRN4 striatin, calmodulin binding protein 4 1580863 10748158,18758461,16344560,15489334,14702039,12477932,9373149,8125298,18782753,17353931,16169070,11707266,18502210,19615732,20332261,19913121,20628086 29888 NM_001039877,NM_013403,AC008622,AC008635,CH471126,AB209003,AF212940,AK056294,AK092913,AK225493,AK297637,AK298804,AK308813,BC004910,BC014278,BC034604,CR612925,CR622498,DA510367 NP_001034966,NP_037535,EAW57442,EAW57443,BAD92240,AAF29527,BAG51668,BAG60009,BAG60939,AAH04910,AAH34604,Q59GV6,Q9NRL3 Hs.631590 FLJ35594|ZIN|zinedin striatin-4 protein-coding 735809 STS steroid sulfatase (microsomal), isozyme S The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The encoded protein is found in the endoplasmic reticulum, where it acts as a homodimer. Mutations in this gene are known to cause X-linked ichthyosis (XLI). [provided by RefSeq] 1601393,1601402,1300048,1580863 2668275,9252398,6957717,19453261,19429462,19347708,19200188,19124506,18937300,18817841,18723074,18467089,18413370,18343103,18249534,18180093,17601726,17481887,17454161,17426092,17415442,16837617,16556483,16467490,16399357,16344560,16084891,15489334,15355916,15302278,15152080,15056284,15009711,14969586,14556660,14507642,12657638,12477932,10844566,10679952,8889548,6948769,3471087,3464600,3203382,3165728,3034252,3032454,2765556,2065092,1539590,12231117,11996939,11886493,11844872,15962010,19551860,19598235,20149601,20151319,20214802,20236202,20814163,20862695 1601393,1601402 412 NM_000351,AC005704,AC112651,CH471074,M23556,M23945,AK314034,AL133910,AM072428,AM072429,AM282551,AM282552,AM282553,AM282554,AU135967,AU137602,AU137974,AU138059,BC075030,BF194867,CB250477,CR618192,H00840,J04964,M16505,M17591,FM209047,NG_021472 NP_000342,EAW98749,AAA60599,AAA60598,BAG36744,CAJ21479,CAJ21480,CAK54338,CAK54339,CAK54340,CAK54341,AAH75030,AAA60597,AAA60596,P08842,Q0GM94,Q0W975,CAR64266 Hs.522578,Hs.700558,Hs.700559 ARSC|ARSC1|ASC|ES|SSDD|XLI arylsulfatase C|estrone sulfatase|steroid sulfatase|steryl-sulfatase|steryl-sulfate sulfohydrolase protein-coding 1344174 STSP steroid sulfatase (microsomal) pseudogene 12815422,3203382 6803 NG_001197,AC006382,M23946 STS-Y|STSP pseudo 1342989 STT3A STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) 1300198,1580863 12887896,19167329,15835887,12477932,10234787,8941377,8838310,8634329,16169070 1300198 3703 NM_152713,AP001132,AP001494,CH471065,CQ834714,AK130548,AK290040,AK290657,AK295892,AK308902,BC020965,BC048348,BE503634,BT007100,BX649102,CR606556,L38961,L47337 NP_689926,EAW67647,CAH05572,BAF82729,BAF83346,BAG58686,AAH20965,AAH48348,AAP35764,AAB05994,AAL77539,P46977 Hs.504237 FLJ27038|ITM1|MGC9042|STT3-A|TMC B5|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A|integral membrane protein 1|integral transmembrane protein 1|oligosaccharyl transferase subunit STT3A|transmembrane conserved|transmembrane protein TMC protein-coding 1606939 STT3B STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) The SIMP protein contains a highly immunogenic minor histocompatibility antigen epitope of 9 amino acids, B6(dom1). Like ITM1 (MIM 601134), SIMP is homologous to yeast STT3, an oligosaccharyltransferase essential for cell proliferation (McBride et al., 2002 [PubMed 12439619]).[supplied by OMIM] 17081983,19167329,16303743,15835887,15489334,14702039,12887896,12477932,12439619,20379614 201595 NM_178862,AC104643,CH471055,AK027789,AK074587,AK075380,AK311488,AY074880,BC015880,CR610915,CR620015 NP_849193,EAW64415,EAW64416,BAB55370,BAC11581,AAL71884,AAH15880,Q8TCJ2 Hs.475812 FLJ90106|SIMP|STT3-B dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B|homolog of yeast STT3|oligosaccharyl transferase subunit STT3B|source of immunodominant MHC associated peptides|source of immunodominant MHC-associated peptides homolog protein-coding 1314629 STUB1 STIP1 homology and U-box containing protein 1 STUB1, or CHIP, is a ubiquitin ligase/cochaperone that participates in protein quality control by targeting a broad range of chaperone protein substrates for degradation (Min et al., 2008 [PubMed 18411298]).[supplied by OMIM] 15489334,15466472,15358145,15302935,15215316,15107424,15046863,14962978,14701756,14612456,12574167,12559985,12477932,12200376,12150907,11805346,11557750,11157797,9610721,18485199,17873020,18223694,18292230,19011619,18541707,11676916,16169070,15708501,20618441,20413784,10330192,16307917,11146632,15781469,16280320,19362296,19198599,19196961,19165527,19103148,19098309,18988734,18955503,18784277,18655187,18436529,18411298,18313385,18094050,17963781,17962192,17666403,17545168,17324930,17304350,17157513,17127076,17081983,16964243,16831871,16725394,16720573,16293251,16207813,16169850,16111477,16037132,15911628,15761032,15189447,15761153,16275660,17178836,17209571,17512523,17595347,18042044,18718056,19483080,19524548,19536328,19648119,19892702,19940151,20146531,16712791,20151404,16038411,16135753,16621797,16714300,16740632,20029029,20661446,15254225,15447663,15525661,15538384,15611333,16682404,20924358 10273 NM_005861,AE006464,CH471112,Z92544,AF039689,AF129085,AF217968,AF432221,BC007545,BC017178,BC022788,BC063617,CB145452,CR593928,CR595251,CR599229,CR603664,CR605807,CR608722,CR610644,CR614839,CR620798,CR624881,CR625822,FB775518 NP_005852,AAK61242,EAW85756,EAW85757,EAW85758,CAM26348,AAC18038,AAD33400,AAG17211,AAL99927,AAH07545,AAH17178,AAH22788,AAH63617,Q9UNE7,ABM84111,ABM87501,CAV30716 Hs.592081 CHIP|HSPABP2|NY-CO-7|SDCCAG7|UBOX1 CLL-associated antigen KW-8|E3 ubiquitin-protein ligase CHIP|STIP1 homology and U box-containing protein 1|antigen NY-CO-7|carboxy terminus of Hsp70-interacting protein|heat shock protein A binding protein 2 (c-terminal)|serologically defined colon cancer antigen 7 protein-coding 1353548 STX10 syntaxin 10 1580863 9446797,16154903,15878329,15489334,12477932,18195106 8677 NM_003765,AC011446,CH471106,AF035531,AY778966,BC017237,BC095459,CR457110,CR601641,CR614578,CR622979 Q5U8S2,NP_003756,EAW84356,EAW84357,AAC05087,AAV48594,AAH17237,CAG33391,O60499 Hs.43812 SYN10|hsyn10 syntaxin-10 protein-coding 1312365 STX11 syntaxin 11 This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq] 634082,1580863 9553086,19169743,18710388,17785771,17525286,16278825,16189514,16180048,15703195,15489334,12477932,10080545,10036234,9571206,11046156,16169070,18029348,19804848,20379614,20486178,19967551 634082 8676 NM_003764,AL135917,NG_007613,AL512354,CH471051,AF038898,AF044309,AF071504,AI791689,AJ012501,AJ012506,BC033519,BF941242,BM150302,BQ030324,CR739089 NP_003755,CAI22980,EAW47849,EAW47850,AAD02107,AAC24031,AAC24004,AAH33519,O75558 Hs.118958 FHL4|HLH4|HPLH4 syntaxin-11 protein-coding 737034 STX12 syntaxin 12 634081,1580863 15469992,17081983,15489334,14702039,12847087,12477932,12070131,11936273,10886332,10833436,10610180,10458612,9852078,9817754,9553086,9507000,9110174,8619474,19910495,17207965,20562859 634081 23673 NM_177424,AL020997,CH471059,AF070635,AF123769,AK095898,AK297585,AK299982,AK309990,AK315880,AL035306,BC046999,BM148993,CR407620,CR590474,CR596091,CR598864,CR609308 NP_803173,CAI20574,CAI20575,EAX07738,EAX07739,AAP97248,BAG59973,BAG61803,BAF98771,CAA22911,AAH46999,CAG28548,Q6LEU0,Q86Y82,ADQ33101 Hs.523855 MGC51957|STX13|STX14 OTTHUMP00000003846|syntaxin-12 protein-coding 1319758 STX16 syntaxin 16 This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18195106,15215310,9464276,9587053,17852734,17389686,15800843,15489334,15231748,14671302,12477932,12110575,11839770,11780052,11483580,20838585,19887622 8675 NM_001001433,NM_003763,NM_001134772,NM_001134773,NG_011831,AL050327,DQ272217,CR617956,AY414339,BX537977,CH471077,AA256337,AF008935,AF008936,AF008937,AF038897,AF305817,AF428146,AI570829,AK026970,AK026974,AK296282,AK304867,AK316547,BC019042,BC073876,CF594260,AL139349 NP_001001433,NP_003754,NP_001128244,NP_001128245,CAI23277,O14662,Q6GMS8,Q96JR6,Q96NX8,CAI23278,CAI23279,EAW75481,EAW75482,EAW75483,EAW75484,EAW75485,EAW75486,EAW75487,AAB69282,AAB69283,AAB69284,AAC05647,AAK55520,AAL25100,BAG58991,BAG65605,BAH14918,AAH19042,AAH73876,CAX14990,CAM28341 Hs.307913 MGC90328|SYN16|hsyn16 OTTHUMP00000174361|OTTHUMP00000174364|syntaxin-16 protein-coding 1352651 STX17 syntaxin 17 1299477,1580863 9852078,9094723,10930465,18029348,19209086,14702039,12477932,20596022 1299477 55014 AL358937,CH471105,AI375996,AK000658,AK095262,AK124662,AK295949,AK311412,AL833620,AL834371,BC051790,BC070269,BC101564,BC101566,NM_017919,BC111009,BC143430,DC318495 NP_060389,CAI95318,EAW58920,BAA91311,BAG53017,BAG58731,CAD39034,AAH70269,AAI01565,AAI01567,AAI11010,P56962,Q2TAB5,Q6NSC7,Q8N3G0 Hs.704031 FLJ20651|MGC102796|MGC126613|MGC126615 syntaxin-17 protein-coding 1320740 STX18 syntaxin 18 1580863 20634891,10788491,19401338,18722709,16571679,15489334,15272311,15029241,12477932,16169070,20087401 53407 NM_016930,AC013725,AC110814,CH471131,AB028741,AK310026,AL832867,AY453396,BC014613,BC071980,BG771856,BT007150,BT020135,BX647083,CR609491,CR625633 NP_058626,EAW82427,EAW82428,EAW82429,BAA95213,AAS47513,AAH14613,AAP35814,AAV38937,Q9P2W9 Hs.584913 DKFZp686O15149|Ufe1 OTTHUMP00000217182|cell growth-inhibiting gene 9 protein|syntaxin-18 protein-coding 1605776 STX19 syntaxin 19 15489334,12477932 415117 NM_001001850,AC117474,AC130896,CH471052,AF461456,BC034696 NP_001001850,EAW79902,AAQ04780,AAH34696,Q8N4C7 Hs.679768 MGC21382 syntaxin-19 protein-coding 69485 STX1A syntaxin 1A (brain) Synaptic vesicles store neurotransmitters that are released during calcium-regulated exocytosis. The specificity of neurotransmitter release requires the localization of both synaptic vesicles and calcium channels to the presynaptic active zone. Syntaxins function in this vesicle fusion process. Syntaxins also serve as a substrate for botulinum neurotoxin type C, a metalloprotease that blocks exocytosis and has high affinity for a molecular complex that includes the alpha-latrotoxin receptor (MIM 600565) which produces explosive exocytosis (Zhang et al., 1995 [PubMed 7622072]).[supplied by OMIM] 1581432,1581434,1580863,2311087 20471030,15537656,8611567,19368856,19129200,19004828,18593506,18512733,18457912,18065728,17912268,17543282,17506992,17264080,17032905,16672225,15822905,15563604,15489334,15459722,15339904,15316009,15219469,15202772,15184072,15175344,14996668,14623309,12853948,12853575,12730201,12651853,12629174,12586365,12562778,12558796,12477932,12446681,12403834,12209004,12200427,12198139,12175857,12145319,12130530,12114505,12101244,12093152,11960023,11884041,11845306,11719842,11509230,11438523,11438522,11112705,11101518,11017172,10954418,10844023,10746715,10722844,10707983,10675364,10468580,10449403,10409621,10397765,10373452,10321247,10194441,10100611,10080545,9930733,9852078,9698305,9697855,9620695,9556632,9478941,9395480,9384384,9311751,9177791,9067339,9045631,9030619,9010211,9003414,8999968,8108429,7791877,7768895,7622514,7622072,7553862,1321498,1315316,12963086,16169070,11832227,11524423,10195194,8663154,20564318,7961655,12828989,9168999,12832401,12590134,12121982,10891589,15778713,15276154,16344560,17200691,17363971,18617632,19557857,19578796,20385907,16722236 1581432,1581434,2311087 6804 NM_004603,AC073846,CH471200,U87315,AB086954,AK299959,AK313980,BC000444,BC003011,BC064644,CR457018,CR601836,CR621226,D37932,L37792,U12918,AI951874,DA159446,NG_013360,NM_001165903 NP_004594,AAS07469,AAS07470,EAW69649,EAW69650,EAW69651,EAW69652,EAW69653,EAW69654,EAW69655,AAB65500,AAK54507,BAC78519,BAG61785,BAG36694,AAH03011,AAH64644,CAG33299,BAA07151,AAA53519,AAA20940,Q16623,Q75ME0,Q7Z5K3,ACT64425,ACT64426,NP_001159375 Hs.647024 HPC-1|P35-1|STX1|SYN1A|p35-1 neuron-specific antigen HPC-1|syntaxin 1a|syntaxin-1A protein-coding 736110 STX1B syntaxin 1B 8105537,18691641,15489334,12477932,8884284,8999968,12093152,12651853,11112705 112755 NM_052874,AC135048,AC135050,CH471192,AY028792,AY203924,AY995211,BC038359,BC062298,BX102270 NP_443106,EAW52178,AAK27267,AAP34447,AAY45889,AAH62298,P61266,Q2VPS2,Q6XYE6 Hs.542230 STX1B1|STX1B2 FP17469|syntaxin 1B1|syntaxin 1B2|syntaxin-1B|syntaxin-1B1|syntaxin-1B2 protein-coding 1350789 STX1B1 syntaxin 1B1 1580863 8884284,8105537 6805 Q15531 D37933 732157 STX2 syntaxin 2 The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 728629,1580863 8466509,1581962,16339081,19129200,18273050,17485553,15943887,15651999,15489334,12477932,12198139,10777504,9425164,9177305,9110174,9045631,8999968,8938452,8619474,8549663,7791877,7768895,12828989,12651853,9168999,8663154,12773094,10397765 728629 2054 NM_001980,NM_194356,AC073912,CH471054,AF052181,BC047496,CD300217,CR613802,D14582 NP_001971,NP_919337,EAW98513,EAW98514,AAH47496,BAA03436,P32856 Hs.437585 EPIM|EPM|MGC51014|STX2A|STX2B|STX2C epimorphin|syntaxin-2 protein-coding 735349 STX3 syntaxin 3 1580863 20695848,18029348,16339081,15623527,15489334,12828989,12477932,12198139,10788461,10397765,10336434,10080545,9852078,9701566,9614185,9378770,9045631,8824312,7791877,7768895,7598732,12558796,9168999,8663154,11003604,12545172,14702039,15576373,16551573,17041090,17363971,18588921,19515809,19815536,20379614,17207965 6809 NM_004177,AP000640,CH471076,AJ002076,AJ002077,AK125660,AK290251,AK293494,AK297419,AK312909,BC007405,BC007429,BT006666,BX538158,U32315,X90581,AA858058,AK055468,NM_001178040 NP_004168,EAW73853,EAW73854,EAW73855,CAA05175,CAA05176,BAG54232,BAF82940,BAG56981,BAG59852,BAG35755,AAH07405,AAH07429,AAP35312,CAD98039,AAA75303,CAA62209,Q13277,EAW73857,Q53YE2,Q7Z338,EAW73856,NP_001171511,ADQ31840 Hs.180711 FLJ30906|STX3A syntaxin 3A|syntaxin-3 protein-coding 731468 STX4 syntaxin 4 2302393,2302397,1580863 16339081,10856305,18029348,16189514,15489334,15351710,15184072,14993220,14702039,12855681,12853575,12832401,12558796,12556468,12517971,12477932,12435603,12417022,12145319,12130530,11884531,11880646,11842301,11063739,10820264,10508479,10397765,10394363,10194441,9815132,9168999,8973549,8770861,8760387,8206394,7791877,7690687,12828989,12651853,10713150,9852078,8663154,12773094,7768895,20595382,9045631,11031247,11252894,11994746,15576373,18535201,18588921,18793635,20434989,20956541,20959521 2302393,2302397 6810 NM_004604,AC135050,CH471192,AF026007,AJ000541,AK091833,AK296652,AK315716,BC002436,BT007326,CR541806,CR590461,CR593917,CR626489,U07158,X85784,AF318489 NP_004595,EAW52175,EAW52176,EAW52177,AAB88810,CAA04174,BAG52424,BAH12411,BAG38075,AAH02436,AAP35990,CAG46605,AAA20967,CAA59769,Q12846,AAG40313 Hs.83734 STX4A|p35-2 OTTHUMP00000196803|renal carcinoma antigen NY-REN-31|syntaxin 4A (placental)|syntaxin-4 protein-coding 68634 STX5 syntaxin 5 1580863 20562859,15215310,9188044,18029348,18167358,17389686,16081076,15489334,14565970,12506202,12477932,12473691,12388752,11959998,11035026,10080545,9714710,9647643,9506515,9166403,9094723,15029241,9325254,16189514,10903204,16169070,12651853,15109302,16712791,11927603,19536132 6811 AK313497,BC002645,BC012137,BT019646,BT019647,BX537426,CB155395,CR590111,CR590126,CR598903,CR599366,CR600501,CR600704,CR601025,CR603145,CR606940,CR616870,CR617230,U26648,NM_003164,AP001160,CH471076,CQ871256,AK296675 BAG59272,BAG36279,AAH02645,AAH12137,AAV38452,AAV38453,CAD97668,AAC71078,Q13190,NP_003155,EAW74108,EAW74109,EAW74110,CAH56809 Hs.654602 SED5|STX5A OTTHUMP00000185028|syntaxin 5A|syntaxin 5a|syntaxin-5 protein-coding 731983 STX6 syntaxin 6 1580863 9110174,8663448,8619474,20562859,20130090,10506127,9697774,18779328,16710414,15689499,15489334,15322554,14702039,14623309,12853575,12477932,11839770,11707463,11423532,11384996,11278762,11001914,10839363,10359608,10080545,9880331 10228 NM_005819,AL162431,AL356267,CH471067,AF038202,AJ002078,AK299063,AK312440,BC009944,BC039118,BU902578,CR541856,CR541873,CR591752,CR608098,CR609438,CR610805,CR612118 NP_005810,CAH74088,CAH72301,EAW91091,EAW91092,EAW91093,CAA05177,BAG61129,BAG35349,AAH09944,CAG46654,CAG46671,O43752,Q96MP3,ABM82858,ABM86045 Hs.518417 syntaxin-6 protein-coding 737314 STX7 syntaxin 7 1580863 20562859,20170677,9358037,18980942,18570918,18198266,16344560,15489334,15345747,14574404,12730232,12665801,12543931,12477932,12218144,12175335,12114520,11786915,11591653,11423532,11382755,11278762,11101518,10982406,10839363,10692457,10564279,9852078,9417091,14623309,11031247,11252894,18029348,19714869,8619474,9110174 8417 NM_003569,AL357034,AL589691,CH471051,AJ420529,AK294911,AK301464,AW500305,BC011975,BF064142,CR596095,CR607128,CR615646,CR618907,DA242979,U77942,AF131808 NP_003560,CAI15716,CAI15717,CAI16816,CAI16817,EAW48029,EAW48030,BAG57998,BAG62984,AAH11975,AAC51851,O15400 Hs.593148,Hs.605992 OTTHUMP00000017219|syntaxin-7 protein-coding 731411 STX8 syntaxin 8 1299477,1580863 16169070,20379614,20886065,10839363,10198254,18029348,9852078,19422935,19174780,18980942,18570918,17965969,16189514,15761153,15489334,15039462,14991845,14623309,12477932,12388752,12175335,11101518,10781590,10683148,10564279,18821010,20595579,20562859 1299477 9482 BU596252,NR_033656,AF062077,NM_004853,AC005695,AC009335,AC087501,CH471108,AF036715,AF115323,BC009713,BC020924,BT007319 NP_004844,EAW90028,EAW90029,EAW90030,EAW90031,AAC95285,AAC36466,AAD20831,AAH09713,AAP35983,Q9UNK0,ABM81911,ABM85087 Hs.431109 CARB CIP-1-associated regulator of cyclin B|syntaxin-8 protein-coding 737322 STXBP1 syntaxin binding protein 1 2311087 20471030,12016213,11927603,10903204,10746715,10449403,10194441,9933594,9545644,9395480,9115738,9045631,8824310,8631738,8108429,7698978,19019082,7768895,7553862,12773094,19557857,18617632,18469812,18268500,17264080,16413130,15635413,15592455,15563604,15489334,15489225,15175344,14744865,14702039,12963086,12950453,12590134,12519779,12477932,12093152,16722236,20681955,20876469,17200691,17363971,19686046 2311087 6812 NM_003165,NM_001032221,AL162426,CH471090,AB209180,AF004562,AF004563,AK094794,AK293984,AK295154,AK295802,BC015749,CR602337,CR626680,D63851,DC325017,Y12723,NG_016623 NP_003156,NP_001027392,CAI41180,CAI41181,EAW87679,EAW87681,BAD92417,AAC39688,AAC39689,BAH11641,BAH11993,BAH12190,AAH15749,BAA19483,CAA73255,P61764,Q59GC9,Q68CM6,ABM86352,ABW03785 Hs.288229 EIEE4|FLJ37475|MUNC18-1|NSEC1|P67|RBSEC1|UNC18 N-Sec1|neuronal SEC1|protein unc-18 homolog 1|protein unc-18 homolog A|syntaxin-binding protein 1|unc-18A|unc18-1 protein-coding 733592 STXBP2 syntaxin binding protein 2 1580863 18588921,16344560,14702039,12773094,12649283,12482918,12477932,12198139,12065586,11748230,10788461,9701566,9373149,9045631,8921365,8125298,7768895,7598732,20798128,20558610,19804848,19884660 6813 NM_006949,NM_001127396,AC008763,CH471139,AB002559,AF318317,AK098000,AK222967,AK222977,AK302257,AK303701,AK314230,BC002869,BT006915,CR597245,CR598164,CR601226,CR603281,CR611106,CR611137,CR611383,CR613567,CR617049,CR620863,CR625756,CR626453,DA431480,U63533,NG_016709 NP_008880,NP_001120868,EAW69017,EAW69018,BAA19547,AAL55824,BAD96687,BAD96697,BAG63608,BAG64687,AAH02869,AAP35561,AAC50762,Q15833,Q53GF4,Q8WYX9,O00184 Hs.515104 FHL5|Hunc18b|MUNC18-2|UNC18-2|UNC18B|pp10122 protein unc-18 homolog 2|protein unc-18 homolog B|syntaxin-binding protein 2|unc-18B protein-coding 732509 STXBP3 syntaxin binding protein 3 1580863,2302393 19061073,18588921,15576373,15489334,15146197,12477932,12065586,9373149,8824310,8125298,12832401,12773094,15707389,20460426,10194441,12649283,20416077,18029348 2302393 6814 CR610191,D63506,AL449266,NM_007269,AL591719,CH471122,AF032922,AK223170,AK290134,AK291322,AK312910,BC028028,BC038099,BC047764,CN409056,CR606910 BAA19482,O00186,CAI14350,NP_009200,CAH72066,EAW56330,EAW56331,EAW56332,AAC69606,BAD96890,BAF82823,BAF84011,BAG35756,AAH38099,AAH47764 Hs.530436 MUNC18-3|MUNC18C|PSP|UNC-18C platelet Sec1 protein|protein unc-18 homolog 3|protein unc-18 homolog C|syntaxin 4 binding protein|syntaxin-binding protein 3|unc18-3 protein-coding 1317366 STXBP4 syntaxin binding protein 4 2302395 19451233,15753124,15489334,14702039,12855681,12477932,10394363,16713569,20095854,20145138,20416077 2302395 252983 NM_178509,AC005177,AC007485,CH471109,AK122865,AK123793,BC041485,BC125116,CA848494,CR593155 NP_848604,EAW94545,EAW94546,BAC85511,AAH41485,AAI25117,Q08AL9,Q6ZWJ1 Hs.35199 FLJ16496|MGC149829|MGC50337|Synip STX4-interacting protein|syntaxin 4 interacting protein|syntaxin 4-interacting protein|syntaxin-binding protein 4 protein-coding 1347913 STXBP5 syntaxin binding protein 5 (tomosyn) Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1299498 17081983,14767561,14702039,14574404,12832401,12477932,10066450,9620695,7829101,16712791,20231535,20463552,20694014,21029358 1299498 134957 NM_001127715,AL355365,AL356415,AL590709,CH471051,AB073398,AI079651,AK055484,AK090549,AK128121,NM_139244,AL834152,AW020148,BC043645,BC065713,BC107737,BC113382,BC113408,CB140025,CR597799 NP_640337,NP_001121187,CAI40420,CAI40423,CAI40424,CAI40425,CAI20239,CAI20240,CAI20241,CAI40737,CAI40739,CAI40740,CAI40741,EAW47819,EAW47820,EAW47821,EAW47822,EAW47823,BAE45727,BAB70930,BAC03475,BAG54632,AAI07738,AAI13383,AAI13409,Q14DD4,Q3B794,Q3LIE1,Q5JRH1,Q5T5C0 Hs.93534 FLJ30922|LGL3|LLGL3|MGC141942|MGC141968|Nbla04300 lethal(2) giant larvae protein homolog 3|putative protein product of Nbla04300|syntaxin-binding protein 5|tomosyn|tomosyn-1 protein-coding 1323085 STXBP5L syntaxin binding protein 5-like 1580863 19586676,15489334,14767561,12477932,10231032,9620695,20379614 9515 BC022029,BC037531,DC324331,DC403621,NM_014980,AC072026,AC078854,AC078857,AC079841,AC112483,AC128659,CH471052,AB023223,AI279148,AK296544 AAH22029,AAH37531,Q9Y2K9,AAI66611,NP_055795,EAW79516,BAA76850,BAG59168 Hs.477315 KIAA1006|LLGL4 OTTHUMP00000215270|OTTHUMP00000215422|OTTHUMP00000215423|OTTHUMP00000215424|OTTHUMP00000215425|lethal(2) giant larvae protein homolog 4|syntaxin-binding protein 5-like|tomosyn-2|tomosyn-like protein-coding 1314544 STXBP6 syntaxin binding protein 6 (amisyn) STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM] 625564 15489334,14702039,12508121,21116278,12477932,12145319,11042152,20379614 625564 29091 NM_014178,AL137164,AL161663,AL161666,CH471078,AF161505,AF391153,AK096957,AK309203,AL834346,BC009499,BC067278 NP_054897,EAW65996,EAW65997,EAW65998,EAW65999,EAW66000,EAW66001,AAF29120,AAM46624,BAC04911,CAD39012,AAH09499,AAH67278,Q8NFX7,ABM84053,ABM87404 Hs.508958 FLJ39638|HSPC156|amisyn OTTHUMP00000178754|syntaxin-binding protein 6 protein-coding 1348462 STYK1 serine/threonine/tyrosine kinase 1 Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM] 11256614,19464057,19409952,17415682,17298854,16381901,15489336,15489334,15150103,12841579,12477932,11230166,11076863,19664042,20379614 55359 NM_018423,AC021049,CH471094,AF251059,AK313906,AL353940,AY563054,BC093822,BC093824 NP_060893,EAW96200,AAK34949,BAG36629,CAB89250,AAT01226,AAH93822,AAH93824,Q6J9G0,CAL38683 Hs.24979 DKFZp761P1010|NOK|SuRTK106 novel oncogene with kinase domain|protein PK-unique|tyrosine-protein kinase STYK1 protein-coding 1312345 STYX serine/threonine/tyrosine interacting protein 1580863 19369647,17047026,15489334,14702039,12477932,11842224,9633825,7592916 6815 NM_145251,NM_001130701,AL133453,AL139317,CH471061,CH471078,AF085865,AK098195,AK124924,AL832591,AL832697,BC020265,BC146995,BC146998,BQ772275,BX647636,DB498442,U87169 NP_660294,NP_001124173,EAW80612,EAW80613,EAW65641,EAW65644,BAC05259,AAH20265,AAI46996,AAI46999,AAB47561,Q8WUJ0 Hs.364980 FLJ42934 protein tyrosine phosphatase-like protein|serine/threonine/tyrosine-interacting protein protein-coding 1353281 STYXL1 serine/threonine/tyrosine interacting-like 1 1580863 20180778,17353931,9757831,15790807,15761153,15489334,12853948,12477932,15735734,10737800 51657 AC006330,CH471220,AA782050,AF069762,AF169647,AF169648,AF188201,AF188202,AF188203,AF188204,AI676056,AK308828,AY927581,BC024035,BM824947,BX537896,CR604706,CR605601,CR609218,CR611131,CR615380,W58723,NM_016086 NP_057170,AAS07535,EAW71789,EAW71790,EAW71791,EAW71792,EAW71793,EAW71794,EAW71795,AAD36983,AAD53723,AAD53724,AAF04111,AAF04112,AAF04113,AAF04114,AAH24035,CAD97887,Q7Z3H6,Q9Y6J8,ABM84346,ABM87738,ACE87204,ACE86525 Hs.11615 DUSP24|MK-STYX OTTHUMP00000161016|OTTHUMP00000210189|OTTHUMP00000210191|OTTHUMP00000210192|OTTHUMP00000210195|dual specificity phosphatase 24 (putative)|dual specificity phosphatase inhibitor MK-STYX|dual specificity protein phosphatase 24|map kinase phosphatase-like protein MK-STYX|serine/threonine/tyrosine-interacting-like protein 1 protein-coding 1605698 SUB1 SUB1 homolog (S. cerevisiae) 19706510,20080105,19759913,11389848,8062391,18029348,19047459,17081983,16982701,16415882,15635413,15489334,15302935,15199162,14966284,12665168,12590132,12565890,12477932,11741883,11313979,11279157,11005381,10887206,9660958,9660784,9632764,9482861,9360603,8062392,7809103,7628453,9885563,15893730,17785449,19525231 10923 AK294124,HI554101,NM_006713,AC074134,CH471118,AB209285,AK307268,AK311754,BC009610,BC010537,BC018189,BC022339,BC063402,BC071655,BC105972,BX472106,CR456902,CR596049,CR607437,CR611066,CR618311,CR618378,CR625854,CR625990,U12979,X79805 BAH11676,CBX54570,NP_006704,EAX10793,EAX10794,EAX10795,EAX10796,BAD92522,BAG34697,AAH09610,AAH10537,AAH18189,AAH22339,AAI05973,CAG33183,AAA20980,CAA56200,P53999,Q59G24,Q6IBA2 Hs.644972,Hs.229641 MGC102747|P15|PC4|p14 OTTHUMP00000220915|OTTHUMP00000220916|OTTHUMP00000220918|OTTHUMP00000220919|activated RNA polymerase II transcription cofactor 4|activated RNA polymerase II transcriptional coactivator p15|positive cofactor 4 protein-coding 2291764 SUB1P1 SUB1 homolog (S. cerevisiae) pseudogene 1 11181995 728938 NG_007169,AC069185,CH471157 EAW65627 hCG17750 pseudo 1319721 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq] 2306915,1580863 10727444,14643893,15877282,15592455,15489334,14702039,12477932,10508479,9765291,9373149,8125298,19526370,19615732,20877624,20843780 2306915 8803 NM_003850,NG_008241,AL157369,CH471075,AB035863,AF058953,AF087890,AK001458,AK001847,AK093506,AK225452,AK299437,AK302311,AK315513,AK316041,AK316271,AL080096,BC027587,BX640602,CR596143,CR598689,CR625494,HQ205871,HQ205872,HQ205873,HQ205874,HQ205876,HQ205877,HQ205879,HQ205882,HQ205883,HQ205886,HQ205891,HQ205894,HQ205897 NP_003841,CAI15149,CAI15150,CAI15151,CAI15153,EAX08775,EAX08776,EAX08777,EAX08778,BAA92873,AAC64396,AAP97189,BAA91703,BAA91939,BAG61414,BAG63649,BAG37894,BAH14412,BAH14642,CAB45708,AAH27587,CAE45708,Q5T9Q5,Q6N0B1,Q7Z503,Q9P2R7,Q9Y4T0,ADP91739,ADP91740,ADP91741,ADP91742,ADP91744,ADP91745,ADP91747,ADP91750,ADP91751,ADP91754,ADP91759,ADP91762,ADP91765 Hs.726226 A-BETA|MTDPS5|SCS-betaA ATP-specific succinyl-CoA synthetase subunit beta|ATP-specific succinyl-CoA synthetase, beta subunit|OTTHUMP00000018385|OTTHUMP00000018388|mitochondrial succinyl-CoA ligase [ADP-forming] subunit beta|renal carcinoma antigen NY-REN-39|succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial|succinyl-CoA synthetase beta-A chain protein-coding 1349385 SUCLA2P succinate-CoA ligase, ADP-forming, beta subunit pseudogene 19851445 646520,394219 AL662822,AL662873,NG_022351,AL844213,BX927143,BX936375,CR762481 Em:AB014080.4|SUCLA2P pseudo 3184209 SUCLA2P2 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 2 100129863 AC073091,NG_021507 pseudo 2859028 SUCLA2P3 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 3 100421648 AC013267,NG_021497 pseudo 731609 SUCLG1 succinate-CoA ligase, alpha subunit 2306915,1580863 15234968,9128182,17668387,16730941,15489334,15342556,12477932,10873456,9373149,8125298,20197121,20227526,14702039,19526370,20877624,20693550 2306915 8802 NM_003849,CH471053,AA705613,AF104921,AK024767,AK225737,AK291082,AK296741,AK313290,BC000504,BM804835,BP194715,CR457139,CR590612,CR598959,CR599526,CR603992,CR605758,CR611933,CR612822,CR622153,Z68204,AC096770,AK125502,BQ774501,NG_016755 NP_003840,EAW99558,AAD17940,BAF83771,BAH12424,BAG36098,AAH00504,CAG33420,CAA92426,P53597,Q6IAL5,AAY24107 Hs.270428 FLJ21114|FLJ43513|G-ALPHA|GALPHA|MTDPS9|SUCLA1 SCS-alpha|succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial|succinyl-CoA synthetase subunit alpha protein-coding 1312779 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 2306915,1580863 19615732,20161066,20379614,9765291,15234968,15489334,12477932,10873456,10471510,9110174,8619474,20800603,20877624,20677014 2306915 8801 NM_003848,AC099783,NM_001177599,R41924,AC112213,AC114401,CH471055,AC113169,AF058954,AF131748,AK294598,AK310527,AL050226,BC007716,BC019868,BC035149,BC047024,BC068602,CR592655 NP_003839,NP_001171070,EAW65456,EAW65457,AAC64397,AAD20032,BAH11821,CAB43323,AAH07716,AAH19868,AAH35149,AAH47024,AAH68602,Q3ZCW5,Q96I99,Q9Y436 Hs.644919 G-BETA|GBETA GTP-specific succinyl-CoA synthetase beta subunit|GTP-specific succinyl-CoA synthetase subunit beta|OTTHUMP00000213364|OTTHUMP00000213365|SCS-betaG|succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial|succinyl-CoA ligase, GDP-forming, beta chain, mitochondrial|succinyl-CoA synthetase beta-G chain|succinyl-CoA synthetase, beta-G chain 2315897 GLUCO187_H protein-coding 1353653 SUCNR1 succinate receptor 1 1331358,1331359 19204147,17192395,15489334,15141213,12477932,11273702,10737800,20694011 1331358,1331359 56670 NM_033050,AC068647,CH471052,AF348078,AK290420,BC030948,EU432110,AF247785,BI031507 NP_149039,EAW78789,EAW78790,AAK29080,BAF83109,AAH30948,ABY87909,Q9BXA5,ABM86821,AAL95690 Hs.279575 GPR91 G protein-coupled receptor 91|G-protein coupled receptor 91|P2Y purinoceptor 1|P2Y purinoceptor 1-like|succinate receptor 1 protein-coding 1605050 SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae) SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM] 11909966,12670868,19070953,17081983,15489334,14702039,12724404,12477932,11214971,16387653,16919237 64426 AA916093,AK023801,AK024460,AK026749,BC030252,BC045728,BC093990,BC098404,BC112000,BX647687,CR594551,CR625328,NM_022491,AC026367,CH471054 EAW98140,EAW98141,BAB14685,BAB15750,AAH30252,AAH93990,AAH98404,AAI12001,Q2M2F3,Q52LB7,Q9H7L9,NP_071936,EAW98137,EAW98138,EAW98139 Hs.416630,Hs.602312 FLJ00052|MGC104711|SAP45|SDS3 45 kDa Sin3-associated polypeptide|sin3 histone deacetylase corepressor complex component SDS3|sin3A-associated protein, 45kDa|suppressor of defective silencing 3 protein homolog protein-coding 1346700 SUFU suppressor of fused homolog (Drosophila) SUFU encodes a component of the Sonic hedgehog (SHH; MIM 600725)/Patched (PTCH; MIM 601309) signaling pathway. Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes (e.g., HPE3, MIM 142945; BCNS, MIM 109400; and GCPS, MIM 175700).[supplied by OMIM] 1599191 17002296,20211142,20819778,10564661,10559945,18029348,19432668,19055941,18997815,18829525,18077375,16691619,16189514,15489334,15367681,15164054,15077159,14611647,12975309,12477932,12426310,12068298,11960000,11252182,10806483,16344560,16385451,19022373,19533801,19833601 1599191 51684 AL121928,AL157386,AL391121,AY081829,CH471066,AF144231,AF159447,AF172319,NM_016169,AF175770,AF222345,AK307370,AK311503,AK312319,AL137465,AY358550,BC013291,DA248208,NG_021338,NM_001178133 NP_057253,CAI12525,CAI12526,CAI12527,CAI39611,CAI39612,CAI39614,CAI39615,CAI40859,CAI40860,CAI40864,CAI40865,AAM08947,EAW49681,EAW49682,EAW49683,EAW49684,AAF23890,AAF23893,AAD51655,AAD50501,AAF35866,BAG35241,CAB70752,AAQ88914,AAH13291,Q5JSM0,Q5JSM1,Q9UMX1,ABM83512,ABM86730,NP_001171604 Hs.404089 PRO1280|SUFUH|SUFUXL OTTHUMP00000020377|OTTHUMP00000020378|OTTHUMP00000020379|suppressor of fused homolog protein-coding 1316810 SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) This gene is homologous to the yeast gene SGT1, which encodes a protein involved in kinetochore function and required for the G1/S and G2/M transitions. Complementation studies suggest that the human protein has similar functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 19398558,19615732,20404110,15342556,15018354,12746458,12665801,12477932,10445024,18358234,17466273,17420470,16964243,15592455,15489334,15346769,20126976 10910 NM_006704,NM_001130912,AL139089,CH471124,AF132856,AJ344097,AK291402,AK292128,AK302363,AY271314,AY321358,BC000911,BP225371,BT009798,CR607917,CR610986,CR624815 CAM23909,NP_006695,NP_001124384,CAI17072,EAW52043,EAW52044,EAW52045,EAW52046,AAD30062,CAC51433,BAF84091,BAF84817,BAG63688,AAQ01749,AAQ76039,AAH00911,AAP88800,Q9P1S2,Q9Y2Z0,ABM81871,ABM85034 Hs.281902 SGT1 SGT1B protein|protein 40-6-3|putative 40-6-3 protein|suppressor of G2 allele of SKP1 homolog|suppressor of G2 allele of SKP1, S. cerevisiae, homolog of protein-coding 1346021 SUGT1L1 SGT1, suppressor of G2 allele of SKP1 like 1 (S. cerevisiae) 14702039,12477932 283507 NR_003365,AL157877,AL161614,AL590064,AF086053,AK093232,AK096993,BC020814,BC047078 Q5T9E9,CAI13219 Hs.442781 SUGT1L1 pseudo 1605159 SUGT1P suppressor of G2 allele of SKP1 pseudogene (S. cerevisiae) 12477932,16344560 441394 NR_003667,AL139008,BE264023,DA804368,DB133316 Hs.521441 MGC15151|SGT1P|SUGT1P|bA255A11.1 pseudo 1626140 SUGT1P2 suppressor of G2 allele of SKP1 pseudogene 2 (S. cerevisiae) 728706 NG_006446,AC138972 pseudo 733350 SULF1 sulfatase 1 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF1, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM] 1580863 20677014,19373441,19520866,19666466,19780053,20083228,20379614,12368295,19487294,19006069,18687675,18507859,18503048,17437011,17363371,16344560,16192265,15817123,14702039,14699503,12686563,12477932,11230166,10470851,20602915 23213 NM_001128206,NM_015170,NM_001128204,NM_001128205,AC013746,AC022790,AC091047,CH471068,AB029000,AF545571,AK055467,AK055607,AK074873,AK095341,AK123744,AK307951,AL136772,AY101175,BC012997,BC068565,BX571746,CR594815,DA234578,DA726387,DA745191 ACE86575,NP_055985,NP_001121676,NP_001121677,EAW86953,EAW86954,EAW86955,BAA83029,AAO33315,BAC11258,CAB66706,AAM76860,AAH12997,AAH68565,CAE11871,Q6NUJ9,Q7Z2W2,Q8IWU6,Q96E28,Q9NTJ8,ACE87258,NP_001121678 Hs.409602 FLJ30905|FLJ38022|FLJ41750|HSULF-1|KIAA1077|SULF-1 extracellular sulfatase Sulf-1|sulfatase FP protein-coding 1312895 SULF2 sulfatase 2 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM] 11780052,11549316,10574462,12368295,16417632,16331886,16192265,15489334,12975309,12477932,12168954,12107413,14702039,18507859,18687675,18937294,19190338,19520866,19855436,20725905 55959 NM_198596,NM_018837,AL034418,AL121777,AL354813,CH471077,AB033073,AK074483,AK075035,AK308829,AL133001,AY101176,AY358461,BC020962,BC073790,BC090952,BC110538,BC110539,BX370010,CR611969,CR749319,AI824415,AK126452,AL550624,CD673642,NM_001161841 NP_940998,NP_061325,CAC17694,CAI42142,CAI42143,CAI17942,CAI17943,EAW75690,EAW75691,EAW75693,EAW75694,EAW75695,BAA86561,CAB61349,AAM76861,AAQ88826,AAH20962,AAH73790,AAH90952,AAI10540,EAW75692,CAH18174,Q5BKT1,Q5JYE2,Q6DKK3,Q8IWU5,ACE87489,ACE86802,ACE87784,ACT64451,NP_001155313 Hs.162016 DKFZp313E091|FLJ44488|FLJ90554|HSULF-2|KIAA1247|MGC126411 OTTHUMP00000215977|extracellular sulfatase Sulf-2 protein-coding 1354374 SULT sulfotransferase 6816 735435 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq] 1581436,1581437,1581438,1581439,1581441,1581442,1581446,1581447,1581448,1581449,1581451,1581452,1581453,1581454,1581455,1300048,2301046,2301048,2301051,2301050,2301040,2301044,2301045,2301049,2301047,1625563,1580863 14688021,14648207,14643027,14642079,14618622,14520706,12867492,12867416,12814450,12761191,12725421,12477932,12471039,12469224,12468438,12455060,12419832,12419790,12402313,12165038,12162852,11804685,11739018,11692076,11535246,11470991,11219777,11207031,11156380,11154739,10762004,10720750,9855620,9566757,9345314,9034160,9014197,8924211,8912648,8484775,8423770,8363592,8288252,8093002,8033270,8033246,7864863,7695643,7581483,8661000,19424794,19350537,19343046,19339270,19322015,19307236,19237513,19126640,19120511,18990750,18854828,18794456,18632753,18499698,18497059,18447907,18368507,18365755,18318428,18264785,18259693,18006944,17996038,17947222,17912498,17619904,17605044,17603900,17479406,17425406,17372243,17372239,17293380,17274372,17244352,17189289,17074589,17013894,16985250,16985032,16926176,16875543,16637266,16575574,16504378,16425401,16418064,16402077,16395669,16380991,16328031,16317586,16284375,16280036,16272171,16232327,16221673,16175316,16141802,16137826,16133548,16103451,16080486,16006997,15987423,15970794,15952058,15949571,15894657,15743503,15632378,15604994,15516026,15489334,15455371,15383623,15377847,15318931,15122594,15093672,15090717,14973106,14871892,20529763,20620409,20634891,20663177,19484729,19575027,19706609,19776291,19789190,19863350,19904771,19906068,19915574,19949855,19956635,20032816,20142249,20192879,20204402,20214802,20309015,20437850,20505544,20505990,20528568,20417180,20565970,20734064,20881232,20936502,21072184 1581436,1581437,1581438,1581439,1581441,1581442,1581446,1581447,1581448,1581449,1581451,1581452,1581453,1581454,1581455,2301046,2301048,2301051,2301050,2301040,2301044,2301045,2301049,2301047,1625563 6817 L19999,U09031,U26309,X78283,X84654,NM_177536,NM_177534,NM_177530,NM_177529,NM_001055,AC020765,L15346,U37025,U52852,U54701,U71086,AB062428,AB209149,AJ007418,AL558375,BC000923,BC110887,BI459867,BI460081,BT007324,CR601418,CR606821,CR608214,CR618607,L10819,L19955 AAA99892,AAA18613,AAA67895,CAA55089,CAA59147,P50225,Q59GG0,Q9UMT9,ABM81921,ABM85098,NP_803880,NP_803878,NP_803566,NP_803565,NP_001046,AAA60595,AAB09759,AAC51816,AAC50480,AAB09597,BAB93491,BAD92386,CAA07495,AAH00923,AAI10888,AAP35988,AAA35562,AAA02935 Hs.567342 HAST1/HAST2|MGC131921|MGC5163|P-PST|PST|ST1A1|ST1A3|STP|STP1|TSPST1 P-PST 1|aryl sulfotransferase 1|phenol sulfotransferase 1|phenol-preferring phenol sulfotransferase1|phenol-sulfating phenol sulfotransferase 1|sulfotransferase 1A1|sulfotransferase family 1a, phenol-preferring, member 1|thermostable phenol sulfotransferase|thermostable phenol sulfotransferase1|ts-PST protein-coding 68509 SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq] 1300048,1580863 20529763,9119390,19343046,18992148,18632753,18259693,17425406,20936502,20417180,12477932,12469224,12419832,12373301,11535246,11207031,11154739,10762004,10720750,10617600,9566757,9034160,8912648,8697101,8661000,8033246,7889867,7581483,19692168,19915574,20214802,16133548,20935630 6799 NM_001054,NM_177528,AC020765,U33886,U34804,U72202,U76619,BC025763,BC052280,BC113727,BC113729,U28169,U28170,X78282 NP_001045,NP_803564,AAC51149,AAB09758,AAB08970,AAB18753,AAI13728,AAI13730,AAB09658,AAB09659,CAA55088,P50226 Hs.546304 HAST4|MGC142287|MGC142289|P-PST|ST1A2|STP2|TSPST2 P-PST 2|aryl sulfotransferase 2|arylamine sulfotransferase|phenol sulfotransferase 2|phenol-preferring phenol sulfotransferase2|phenol-sulfating phenol sulfotransferase 2|phenolic-metabolizing (P) form of PST|sulfotransferase 1A2|sulfotransferase family 1a, member 2|thermostable phenol sulfotransferase protein-coding 1347398 SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Exons of this gene overlap with exons of a gene that encodes a protein containing GIY-YIG domains (GIYD1). Multiple alternatively spliced variants that encode the same protein have been described. [provided by RefSeq] 1580863 16344560,17433394,17876860,17891604,17908235,19122289,19131519,19171676,19178765,19646966,19679676,7829089,7802665,7695643,19447296,17963788,17425406,17002600,16083857,15752422,15489334,15358107,14871892,14702039,14622112,12761191,12477932,12424257,12228221,11535246,11154739,10720750,10617600,10608851,10543947,10336855,9034160,8912648,8363592,8187949,8117269,8093002,7961757,7695637 6818 AK298073,BC132914,BC132920,DA978913,NM_177552,NG_005305,AC106782,U08099,U20499,U37686,AB111093,AB111094,AB111095,AB111096,AB111097,AB111098,AB111099,AI672638,BC078144,BC144354,BC144355,BC171772,NM_003166,L25275,U08032,U34199 AAI32915,AAI32921,BAG60362,NP_003157,NP_808220,AAA82126,AAA64490,AAA86536,BAE94927,BAE94928,BAE94929,BAE94930,BAE94931,BAE94932,BAE94933,AAH78144,AAI44355,AAI44356,AAI71772,ADR82917,AAA36523,AAA17723,AAC99987,P50224,Q1ET61,Q1ET62,Q1ET63,Q1ET64,Q1ET65,Q1ET66,AAI41505,AAI56740 Hs.460558 HAST|HAST3|M-PST|MGC117469|ST1A3/ST1A4|ST1A5|STM|SULT1A4|TL-PST OTTHUMP00000045746|OTTHUMP00000045747|ST1A3/ST1A4|aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|dopamine-specific sulfotransferase|monoamine-preferring sulfotransferase|monoamine-sulfating phenol sulfotransferase|monoamine-sulfating phenosulfotransferase|phenol sulfotransferase 1A5|phenol sulfotransferase 1A5*4|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A3/1A4|sulfotransferase, monoamine-preferring|thermolabile (monoamine, M form) phenol sulfotransferase|thermolabile phenol sulfotransferase protein-coding 1604886 SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Exons of this gene overlap with exons of a gene that encodes a protein containing GIY-YIG domains (GIYD2). Multiple alternatively spliced variants that encode the same protein have been described. [provided by RefSeq] 8117269,8363592,17425406,15752422,15358107,11154739,10720750,9034160,7961757,12477932 445329 NM_001017389,NM_001017390,NG_005304,AC133555,L34160,AB111093,AB111094,AB111095,AB111096,AB111097,AB111098,AB111099,BC078144,L25275,U08032,U34199,AK298073,BC132914,BC132920,BC144354,BC144355,BC171772 NP_001017389,NP_001017390,BAE94927,BAE94928,BAE94929,BAE94930,BAE94931,BAE94932,BAE94933,AAH78144,AAA36523,AAA17723,AAC99987,AAI32915,AAI32921,BAG60362,P50224,AAI44355,AAI44356,AAI71772 Hs.460558 FLJ54864|HAST3|M-PST|ST1A3/ST1A4|SULT1A3|TL-PST HAST3|M-PST|ST1A3/ST1A4|TL-PST|aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|monoamine-sulfating phenol sulfotransferase|phenol sulfotransferase|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A3/1A4|sulfotransferase, monoamine-preferring|thermolabile phenol sulfotransferase protein-coding 1354463 SULT1B1 sulfotransferase family, cytosolic, 1B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq] 1299514 19898482,9463486,9443824,19343046,17425406,16804942,15489334,12477932,11688987,11535246,11368519,11329013,11154739,10720750,9034160 1299514 27284 NM_014465,AC125239,AF184894,CH471057,BC010895,BG461453,D89479,U95726 NP_055280,AAF05917,EAX05595,AAH10895,BAA24547,AAB65154,O43704 Hs.129742 MGC13356|ST1B1|ST1B2|SULT1B2 sulfotransferase 1B1|sulfotransferase 1B2|sulfotransferase family cytosolic 1B member 1|thyroid hormone sulfotransferase protein-coding 1314184 SULT1C2 sulfotransferase family, cytosolic, 1C, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 9169148,18029348,19343046,17425406,16804942,16507781,15489334,12477932,11740338,11535246,11154739,11077054,10783263,10720750,10481272,9852044,9635888,9034160,7642552,16341674,19898482,20453000,20819778 6819 NM_176825,NM_001056,AC019100,AF186259,AF186262,CH471182,AA856596,AB008164,AF026303,AF186251,AF186252,AF186253,AF186254,AF186255,AF186256,AI986284,AK297086,AK298306,AK313193,AL832145,BC005353,BM849361,BT006951,R86241,U66036 NP_789795,NP_001047,AAY14790,AAF72806,AAF72805,EAW53889,EAW53890,BAA28346,AAC00409,AAF72799,AAF72800,AAF72801,AAF72802,AAF72803,AAF72804,BAG59602,BAG60560,BAG36010,AAH05353,AAP35597,AAC51285,O00338 Hs.436123 ST1C1|ST1C2|SULT1C1|humSULTC2 OTTHUMP00000203304|OTTHUMP00000203390|SULT1C#1|sulfotransferase 1C1|sulfotransferase 1C2|sulfotransferase family, cytosolic, 1C, member 1|sulfotransferase family, cytosolic, 1c, member 1 protein-coding 4144689 SULT1C2P1 sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1 14676822,14702039 151234 XR_109935,XR_112368,XR_113359,AC019100,AK056906,NR_037191 Hs.447681 SULT1C1P sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1 pseudo 1606856 SULT1C3 sulfotransferase family, cytosolic, 1C, member 3 17936463,20379614,17425406,15815621,14676822 442038 NM_001008743,AC019100,BK001432 DAA01770,NP_001008743,DAA01771,Q6IMI6,AAI46363 Hs.535156 ST1C3 sulfotransferase 1C3 protein-coding 1347018 SULT1C4 sulfotransferase family, cytosolic, 1C, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. 1580863 9852044,17425406,15815621,12477932,11535246,11154739,10783263,10720750,9034160 27233 NM_006588,AC068941,AF186263,CH471182,DQ987914,BC058861,BC125043,AK297851,AK298755,CR621339,CR625884 NP_006579,AAY14742,AAF72810,EAW53885,EAW53886,ABI75348,AAH58861,AAI25044,O75897,Q08AS5,Q6PD90,BAG60183,BAG60897 Hs.312644 MGC149521|MGC34422|SULT1C|SULT1C2 OTTHUMP00000203388|ST1C4|SULT1C#2|sulfotransferase 1C2|sulfotransferase 1C4|sulfotransferase family, cytosolic, 1C, member 2|sulfotransferase family, cytosolic, 1C, member C2 protein-coding 1605577 SULT1D1P sulfotransferase family, cytosolic, 1D, member 1 pseudogene Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. This gene has been inactivated by mutation and is nonfunctional in humans. 18085818,14676822,11688987,20210993 133150 NG_002642,AC108941 SULT1D1 pseudo 1351097 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq] 2301040,2302564,1581439,2302565,2302563,1580863 18029348,20429582,8185618,7779757,19551860,19429440,19343046,18831980,18794456,18794126,18467089,18318428,17661084,17425406,17372239,17293380,17187396,16985250,16969590,16418064,16189514,16169070,15894657,15489334,15355916,15188402,14556660,14507642,12782487,12477932,11884392,11688987,11535246,11154739,10720750,10541560,9348232,9034160,8971138,8603401,8530066,7961757,19776291,19898482,20025931,20142249,20214802,20379614,20381444,20505544 2301040,2302564,1581439,2302565,2302563 6783 NM_005420,AC108941,AY436634,CH471057,U20521,AK310845,AK312236,BC027956,CR407621,S77383,U08098,U55764,Y11195,CS691411 NP_005411,AAQ97179,EAX05597,AAC50286,BAG35169,AAH27956,CAG28549,AAB34601,AAA82125,AAB51658,CAA72079,P49888,Q53X91,CAP12208 Hs.479898 EST|EST-1|MGC34459|STE ST1E1|estrogen sulfotransferase|estrone sulfotransferase|sulfotransferase 1E1|sulfotransferase, estrogen-preferring protein-coding 1344997 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene is primarily expressed in liver and adrenal tissues where the encoded protein sulfates steroids and bile acids. [provided by RefSeq] 1580863,2325883 11950791,11535246,11172807,10854859,10775806,10720750,10541560,9034160,8575776,8299591,8142314,7736787,7710689,7678732,7598806,7589785,1569919,1588921,2268288,19598235,19343046,18684447,18656962,18505908,18042734,17426092,17425406,17276571,16617014,16469813,16360722,15878968,15713538,15489334,15388788,14573603,12477932,12399026,12167565,11990382,11988089,1520333,19420132,20102295,20214802 2325883 6822 AC024582,AC124853,CH471126,EU522670,L36196,U13061,AK289380,AK313415,BC020755,BG563083,BX509490,CR608228,L02337,L20000,S43859,NM_003167,S43861,U08024,U08025,X70222,X84816,NG_016745 NP_003158,EAW57516,EAW57517,ACB21041,AAA75491,AAC51353,BAF82069,BAG36209,AAH20755,AAA35758,AAB23169,AAA17749,AAA17750,CAA49755,CAA59274,Q06520,ABM82091,ABM85272 Hs.515835 DHEA-ST|DHEAS|HST|ST2|ST2A1|ST2A3|STD|hSTa alcohol/hydroxysteroid sulfotransferase|bile salt sulfotransferase|bile-salt sulfotranasferase 2A1 protein-coding 1318906 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq] 11154739,10720750,9034160,9799594,12145317,11416019,19343046,18586095,17626250,17496163,17425406,17347498,16189514,15953604,15878639,15489334,15140224,15063762,15057824,14741047,14702039,14676143,12923182,12477932,12399026,11594786,11535246,11457664,19060904,19243756,20214802,20329768,17207965 6820 NM_177973,NM_004605,AC008403,CH471177,U92316,U92317,U92318,U92319,U92320,U92321,U92322,AK096418,BC034694,U92314,U92315 NP_814444,NP_004596,EAW52354,EAW52355,AAC78554,AAC78553,AAH34694,AAC78498,AAC78499,O00204,ADQ32321 Hs.369331 HSST2 ST2B1|alcohol sulfotransferase|hydroxysteroid sulfotransferase 2|sulfotransferase 2B1|sulfotransferase family cytosolic 2B member 1 protein-coding 736677 SULT4A1 sulfotransferase family 4A, member 1 This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq] 68861,1580863 10698717,19439498,19343046,19125109,18823757,17425406,16152568,15489334,15461802,14702039,14623933,12529303,12039030,11535246,11154739,10720750,10591208,9034160,12477932,20819778 68861 25830 NM_014351,AL832543,CH471138,Z97055,AF115311,AF176342,AF188698,AF251263,AK091700,AK294622,AK295399,AK313048,AL590119,BC022459,BC028171,BC030665,CR456588 NP_055166,EAW73317,EAW73318,EAW73319,EAW73320,CAB09788,AAF21970,AAK64595,AAF61197,AAF98152,BAH11827,BAH12056,BAG35880,CAC34872,AAH22459,AAH30665,CAG30474,Q9BR01,CAK54619,CAK54918,ABM83299,ABM86509,AAH28171 Hs.189810 BR-STL-1|BRSTL1|DJ388M5.3|MGC40032|NST|SULTX3|hBR-STL-1 OTTHUMP00000197813|ST4A1|brain sulfotransferase-like protein|brain sulphotransferase-like|hBR-STL|nervous system cytosolic sulfotransferase|nervous system sulfotransferase|sulfotransferase 4A1|sulfotransferase-related protein protein-coding 1626598 SULT6B1 sulfotransferase family, cytosolic, 6B, member 1 17425406,15815621,14676822,12477932,20832056 391365 NM_001032377,AC007899,BK001437,CH471053,AY289770,AY289771,AY289772,AY289773,AY289774,AY289775,BC140797,BC144573,BC144574 NP_001027549,DAA01772,EAX00405,AAI40798,Q6IMI4 Hs.631892 OTTHUMP00000201330|ST6B1|sulfotransferase 6B1|sulfotransferase SULT6B1|thyroxine sulfotransferase protein-coding 1320552 SUMF1 sulfatase modifying factor 1 Sulfatases catalyze the hydrolysis of sulfate esters such as glycosaminoglycans, sulfolipids, and steroid sulfates. C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine by SUMF1, the FGly-generating enzyme (FGE), in the endoplasmic reticulum (ER). The genetic defect of FGly formation caused by mutations in the SUMF1 gene results in multiple sulfatase deficiency (MSD; MIM 272200), a lysosomal storage disorder (Roeser et al., 2006 [PubMed 16368756]).[supplied by OMIM] 1599192,1580863 19262745,18579805,18509892,18508857,18305113,18178549,18157819,17932120,17657823,17446859,17206939,16368756,16303743,15962010,15907468,15657036,15489334,15146462,14702039,12975309,12757706,12757705,12477932,16344560,8012384,20802204 1599192 285362 AC024168,AC034191,CH471055,CQ866665,AB448737,AK057983,AK075459,AK094111,AK295240,AK302018,AY208752,AY323910,AY358092,BC017005,BC110862,BC121122,BC121123,NM_182760,BG705404,CR615481,CA413741,DA844846,NG_016225,NM_001164674,NM_001164675,Z62057,Z65851 NP_877437,EAW63906,EAW63907,CAH25965,BAH11168,BAB71625,BAC11634,BAG58233,BAG63417,AAO34683,AAP86217,AAQ88459,AAH17005,AAI10863,AAI21123,AAI21124,Q0VAC6,Q8NBK3,NP_001158146,NP_001158147 Hs.350475 AAPA3037|FGE|MGC131853|MGC150436|UNQ3037 C-alpha-formylglycine-generating enzyme 1|FGly-generating enzyme|OTTHUMP00000207086|OTTHUMP00000207088|sulfatase-modifying factor 1 protein-coding 1349479 SUMF2 sulfatase modifying factor 2 The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 12757705,12477932,8889548,16169070,19739097,18266766,16344560,16303743,15962010,15708861,15687489,15489334,15342556,15231748,14563551,12975309,12853948,12757706 25870 AL050037,AY323911,AY359103,BC000224,BC006159,BC015600,BC065222,BC084539,BC111092,BM423367,BP256067,BP296294,CF131206,CR594356,CR602256,CR616604,CR622221,CR936749,CR936757,CX164099,DA130450,DA917807,DA924174,DB010869,NM_015411,NM_001130069,NM_001042469,NM_001042470,NM_001146333,AC092101,CH471140,CS051309,AF075046,AK075477,AK297042,AK297793,AK298605,AK300488,AK301627 CAB43247,AAP86218,AAQ89461,AAH00224,AAH06159,AAH15600,AAH84539,AAI11093,Q75LP3,Q8NBJ7,NP_056226,NP_001123541,NP_001035934,NP_001035935,NP_001139805,AAS07452,EAX07975,EAX07976,EAX07977,EAX07978,EAX07979,EAX07980,EAX07981,EAX07982,EAX07983,EAX07984,EAX07985,EAX07986,CAI72149,BAC11643,BAG59569,BAG60133,BAG60789,BAG62203,BAG63112 Hs.279696 DKFZp566I1024|DKFZp686I1024|DKFZp686L17160|DKFZp781L1035|MGC99485|pFGE C-alpha-formyglycine-generating enzyme 2|C-alpha-formylglycine-generating enzyme 2|OTTHUMP00000208556|OTTHUMP00000208560|OTTHUMP00000208571|OTTHUMP00000209372|OTTHUMP00000209373|OTTHUMP00000209374|paralog of the formylglycine-generating enzyme|sulfatase-modifying factor 2 protein-coding 1315807 SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq] 1642482 19913121,20501649,20533263,20628086,20634891,20738159,20016603,20537536,20711444,16029420,16030353,16332688,16360037,16424386,19919826,20016594,15489334,15487983,15456902,15355965,15337742,15296745,15272016,15229220,15220454,15123625,15064418,15037602,15016812,14992729,14637113,14609633,14563852,14559918,14527952,14514699,14500761,14500712,12924945,12855578,12832072,12810706,12788062,12769861,12761214,12727872,12679040,12665592,12663783,12646186,12633878,12631292,12626745,12621041,12615929,12590135,12565818,12552083,12529333,12526767,12511558,12477932,12439742,12419227,12393906,12383504,12354770,12297306,12223491,12200128,12193561,12177000,12161447,12150977,12149243,12144530,12060666,12032081,11997515,11960997,11948183,11889051,11867732,11842245,11792325,11735126,11731474,11709553,11583632,20519406,15171703,15465032,15465831,15469925,18625722,20881090,21047957,9885291,12072434,14516784,17081985,8812453,15572661,18579533,14752048,15637059,17696781,9412458,9019411,8806687,19384898,19380586,19297320,19287951,19251700,19041634,19029252,18983974,18978678,18836734,18762900,18707152,18694876,18660489,18592385,18408014,18404132,18211901,18093978,18063693,17976381,17932034,17671677,17509614,17466333,17360386,17320104,17164289,17081983,17060459,17027752,16990542,16955485,16904644,16712526,16690127,16678795,16651613,16631117,16600910,16568089,16563226,16524884,16501610,16494873,16484498,16478998,16478538,16475184,16464864,16460827,16443219,16442531,16428860,16428803,16428449,16421094,16415059,16352666,16204249,16189514,16154161,16125395,16122737,16120648,16117725,16112644,16055710,15959518,15958389,15931224,15923626,15907800,15882793,15881673,15857832,15823533,15815621,15788563,15782135,15723079,15660128,15608651,15507114,11514557,11500040,11420669,11384992,11313457,11278381,11112409,11080164,11078523,10964520,10961991,10862613,10799485,10759568,10694430,10655495,10574707,10535925,10212234,10187798,9891849,9756909,9740801,9734360,9654451,9465300,9442102,9162015,9119407,8978815,8921390,8906799,8889548,15613319,17646165,18348865,9452416,18583933,18403372,18572193,18617892,11716541,12192048,10217437,17353931,16169070,17848550,14701874,11739688,11129635,12606074,11907324,15592428,15546615,10788439,9920803,20584900,15576338,15896780,16098147,16760465,16763556,17000644,17369817,17491593,17525163,17956732,18408734,18691969,19497852,19565496,19596686,19680224,19859084,19889771,19917317,19937600,19955185,20065354,20145208,20544801,15876864,15961505,18946085,21044801,20661221 1642482 7341 NM_003352,NM_001005781,NG_011679,AC079354,CH471063,AA401634,AB062294,AI815216,AK311840,BC005899,BC006462,BC053528,BC066306,BG503431,BG569821,BQ930026,BT006632,BU532734,CA313671,CR542147,CR542156,CR591247,CR591393,CR591769,CR595275,CR610134,CR620649,CR620936,CR621661,CR623467,U38784,U61397,U67122,U72722,NM_001005782,U83117,X99586 NP_001005782,NP_003343,NP_001005781,AAY24035,EAW70304,EAW70305,EAW70306,EAW70307,BAB93477,BAG34782,AAH06462,AAH53528,AAH66306,AAP35278,CAG46944,CAG46953,AAC50733,AAB40388,AAC50996,AAB40390,AAB39999,CAA67898,P63165,ABM84136,ABM87155 Hs.596171,Hs.81424 DAP-1|DAP1|GMP1|OFC10|PIC1|SENP2|SMT3|SMT3C|SMT3H3|SUMO-1|UBL1 GAP modifying protein 1|OTTHUMP00000202403|OTTHUMP00000202404|OTTHUMP00000202405|OTTHUMP00000202406|OTTHUMP00000202409|OTTHUMP00000202410|SMT3 homolog 3|sentrin|small ubiquitin-related modifier 1|smt3 suppressor of mif two 3 homolog 1 (yeast)|ubiquitin-homology domain protein PIC1|ubiquitin-like protein SMT3C|ubiquitin-like protein UBL1 protein-coding 1601685 SUMO1P1 SUMO1 pseudogene 1 12477932,12383504,9671742,9465300 391257 NR_002189,AC005220,BC065723 Hs.449977 PIC1L|UBL2 pseudo 1603799 SUMO1P2 SUMO1 pseudogene 2 12383504,9465300 474337 NG_004725,AL135926 bA375F2.1 pseudo 1601782 SUMO1P3 SUMO1 pseudogene 3 12383504,9465300,8889549 474338 NR_002190,AL513282,AA021599 Hs.621179 pseudo 1603798 SUMO1P4 SUMO1 pseudogene 4 12383504,9465300 474340 NG_004726,AC011450 pseudo 2292053 SUMO1P5 SUMO1 pseudogene 5 12383504,9465300 474341 AC010493,NG_021192 pseudo 1346569 SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 20797634,20881090,16553580,16524884,16055710,15870296,15489334,15487983,15479240,15456902,15296745,15272016,12924945,12810706,12665592,12590135,12477932,12383504,12161447,11889051,11489887,11451954,11283016,11029585,10692421,9556629,9452416,9373149,9119407,8630065,8125298,15383276,19394292,19332021,19041634,19029252,18946085,18708356,18694876,18565875,18374647,18081309,17164289,17012228,16904644,16626738,16567619,18442052,18644859,16169070,16356933,16424386,20016594,20016603,11731474,16428449,16442531,16494873,16600910,16620772,16713569,16955485,17000644,17077080,17491593,17696781,18408734,18806873,19597476,19615732,19635839,19638612,19919826,20181954 6613 NM_001005849,NM_006937,AC022211,CH471099,AK024823,AK225090,AK225263,AK311837,BC008450,BC016775,BC022340,BC062713,BC068465,BC070159,BC071645,BC071646,BC107853,BF700114,BG778261,CR597842,CR610257,CR614076,CR620601,CR624759,L76416,X99585 ABM87276,ABM83962,NP_001005849,NP_008868,EAW89249,EAW89250,BAG34779,AAH08450,AAH16775,AAH22340,AAH62713,AAH68465,AAH70159,AAH71645,AAH71646,AAI07854,AAD45399,CAA67897,P61956 Hs.380973,Hs.546298 HSMT3|MGC117191|SMT3B|SMT3H2|SUMO3 SMT3 homolog 2|sentrin 2|small ubiquitin-like modifier 2|small ubiquitin-related modifier 2|smt3 suppressor of mif two 3 homolog 2 (yeast)|ubiquitin-like protein SMT3B protein-coding 1350239 SUMO2P SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 285829 NG_002750,AL031983,AL645936,AL662826,AL929591,BX120002,CR388210,CR388408,CR759766,CR936483 SMT3Bp|SMT3H2P|SUMO2P|dJ271M21 pseudo 4144300 SUMO2P3 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 3 9847074 652489 AC091812,NG_005815 pseudo 4144409 SUMO2P4 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 4 100288757 AC010273 pseudo 4146108 SUMO2P5 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 5 100526738 AC008769,NG_027890 pseudo 4771795 SUMO2P6 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 6 100127922 AC108112,NG_027875 pseudo 4144231 SUMO2P7 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 7 100131823 AC015909,NG_027891,XM_003118743,XM_003119681,XM_003120888 XP_003118791,XP_003119729,XP_003120936 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 7 pseudo 1346388 SUMO3 SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) SUMO proteins, such as SUMO3, and ubiquitin (see MIM 191339) posttranslationally modify numerous cellular proteins and affect their metabolism and function. However, unlike ubiquitination, which targets proteins for degradation, sumoylation participates in a number of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability (Su and Li, 2002 [PubMed 12383504]).[supplied by OMIM] 1580863 18644859,12192048,11889051,16169070,14701874,11739688,17000644,17353931,17696781,9119407,19029252,18946085,18842587,18708356,18694876,18565875,18374647,17164289,17012228,16626738,16608850,16553580,16154602,16055710,15723523,15489334,15487983,15456902,15296745,12924945,12810706,12511558,12477932,12383504,11997515,11451954,10830953,10692421,9373149,8125298,16424386,20016603,15383276,15576338,16428449,16442531,16494873,16620772,16934752,19050011,19597476,19635839,19919826,20056645,20181954 6612 CR609292,CR610020,CR611930,CR612989,CR614323,CR617517,CR619289,CR620451,CR625310,X99584,CR609005,NM_006936,AL773603,CH471079,AK222591,AK300822,AK312350,BC000036,BC008420,BT007008,CR542173,CR542188,CR590791,CR590916,CR595623,CR597395,CR599370,CR601502,CR604117,CR606191,CR606419 CAA67896,P55854,NP_008867,EAX09390,EAX09391,EAX09392,EAX09393,BAD96311,BAG62476,BAG35271,AAH00036,AAH08420,AAP35654,CAG46970,CAG46985 Hs.474005 SMT3A|SMT3H1|SUMO-3 SMT3 homolog 1|SMT3 suppressor of mif two 3 homolog 1|SUMO-2|small ubiquitin-related modifier 3|smt3 suppressor of mif two 3 homolog 3 (yeast)|ubiquitin-like protein SMT3A protein-coding 1349888 SUMO4 SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae) This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq] 19410319,19222990,19122825,18708028,18657476,18466531,18466472,18330586,17990297,17926234,17660269,17558709,17554341,17459725,17452059,17374705,17373940,17229939,17130565,17130563,17130532,17130530,16821265,16755651,16735488,16306380,16249223,16198310,16159953,15730420,15678137,15678135,15678134,15247916,15123604,14574404,12901503,8733139,8072542,20868570,16236267,20728233,21158221,12477932,19915388,19956095,20448286,20518843 387082 NM_001002255,NG_012301,AB205057,AL031133,CH471051,AY340238,BC130305 NP_001002255,BAH05006,CAA20019,EAW47808,AAR04484,AAI30306,Q6EEV6,ADR82794 Hs.657168 IDDM5|SMT3H4|SUMO-4|dJ281H8.4 SMT3 suppressor of mif two 3 homolog 2|small ubiquitin-like modifier 4 protein|small ubiquitin-related modifier 4|smt3 suppressor of mif two 3 homolog 4 (yeast) protein-coding 1352324 SUNC1 Sad1 and UNC84 domain containing 1 18029348,19193627,12498619,12477932,20379614 256979 NM_001030019,NM_152782,AC069279,CH236958,CH471128,AF429967,AK302011,BC026189,BG772576,BU623138,DQ099386 NP_001025190,NP_689995,EAL23808,EAW60999,EAW61000,AAP97300,BAG63413,AAH26189,AAZ13762,Q8TAQ9 Hs.406741 MGC33329|SUNC1 OTTHUMP00000208375|OTTHUMP00000208377|SUN domain-containing protein 3|Sad1 and UNC84 domain containing 1|sad1/unc-84 domain-containing protein 1 protein-coding 733312 SUOX sulfite oxidase Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq] 1300048,1600114,1600121,1580863 9428520,18959753,18529001,18198356,18177044,17940249,17366837,16475804,16344560,16229463,16140720,15489334,14729666,14567685,12832761,12763039,12477932,12424234,12368985,12112661,10519592,9600976,7599189,20491442,20063894,20877624 1600114,1600121 6821 NM_000456,NM_001032386,NM_001032387,NG_008136,AC034102,AY056018,CH471054,AK312763,AU121557,AU126450,BC065193,CR610752,L31573,HM013717 NP_000447,NP_001027558,NP_001027559,AAL08048,EAW96867,EAW96868,EAW96869,EAW96870,EAW96871,BAG35629,AAH65193,AAA74886,P51687,ADG45310 Hs.558403 sulfite oxidase, mitochondrial protein-coding 1320698 SUPT16H suppressor of Ty 16 homolog (S. cerevisiae) Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq] 19214185,20562859,11239457,10912001,10792464,9836642,9489704,18206970,15546612,19615732,10421373,12676794,18406329,17567985,17209051,17081983,16977311,16902406,16713563,16682447,15616580,15489334,14702039,14660563,14559993,12934006,12837248,12477932,12393879 11198 NM_007192,NG_009932,AL135744,CH471078,AF164924,AK001719,AK024072,AK091676,BC000565,BC012582,BC014046,BC064561,BC073849,BC111402,BP872403,CR594514,CR612151,CR616669 NP_009123,EAW66386,EAW66387,AAF28231,AAH00565,AAH14046,AAH64561,AAH73849,AAI11403,Q0VGA3,Q9Y5B9 Hs.213724 CDC68|FACTP140|FLJ10857|FLJ14010|FLJ34357|SPT16/CDC68 FACT 140 kDa subunit|FACT complex subunit SPT16|chromatin-specific transcription elongation factor 140 kDa subunit|facilitates chromatin remodeling 140 kDa subunit|facilitates chromatin transcription complex subunit SPT16|hSPT16 protein-coding 2289750 SUPT16HP suppressor of Ty 16 homolog (S. cerevisiae) pseudogene 400011 NG_009707,AC007528 bcm670 pseudo 1313449 SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) 1580863 9787080,11564863,18206972,9726987,10373431,19259136,18519826,18391951,17967894,12660246,12601814,12477932,11406595,11238933,9885574,9674425,16494529,18839057,19615732,19893584,20379614,20628086,18029348 8464 AL096865,AL138880,AL161905,AL360272,AL391118,AL499610,CH471081,AF069734,AF073930,AF279781,AK303838,AK313874,BC035816,BC050384,NM_181356,NM_003599 CAI19927,CAI14625,CAI14627,CAI15663,CAI15664,CAI15666,CAH70845,CAH70846,CAH70848,CAH73344,EAX04274,EAX04275,EAX04276,AAC39904,AAC36098,BAG64782,BAG36602,AAH35816,AAH50384,O75486,Q5U608,Q5VWT9,ABZ92456,NP_852001,NP_003590 Hs.368325 SPT3|SPT3L OTTHUMP00000043628|OTTHUMP00000043629|SPT3-like protein|transcription initiation protein SPT3 homolog protein-coding 1314951 SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae) 9450929,9857195,10075709,8649394,12676794,19210550,17502349,16214896,15489334,15380072,15136722,15060154,14702039,12718890,12653964,12612062,12477932,12391174,11553615,11112772,10912001,10757782,10454543,10199401,8786137,18373978,16169070,17962196,19860741,19952111 6827 NM_003168,AC004687,CH471109,AK129758,AK311986,BC002802,CR407663,CR594476,CR594796,CR605018,CR605330,CR613341,CR616121,CR620477,CR622557,U38817,U38818,U43923 NP_003159,EAW94464,EAW94465,EAW94466,EAW94467,BAC85230,BAG34925,AAH02802,CAG28591,AAB18675,AAB18674,AAB07814,P63272,ABZ92239 Hs.439481 SPT4|SPT4H|SUPT4H DRB sensitivity-inducing factor 14 kDa subunit|DRB sensitivity-inducing factor small subunit|DSIF p14|DSIF small subunit|hSPT4|transcription elongation factor SPT4 protein-coding 2301497 SUPT4H1P SUPT4H1 pseudogene 100190947 NG_008701,AC005034 pseudo 1348806 SUPT4H2 suppressor of Ty 4 homolog 2 (S. cerevisiae) 6828 1346289 SUPT5H suppressor of Ty 5 homolog (S. cerevisiae) 1580863 10075709,9450929,9512541,9790902,12676794,19210550,17502349,17081983,16427012,16344560,16214896,16169070,15620346,15564463,15489334,15380072,15342556,15231748,15136722,15060154,14702039,14701750,14580347,12718890,12653964,12612062,12477932,12391174,11940650,11809800,11575923,11553615,11145967,11112772,10912001,10757782,10454543,10421630,10393184,10199401,9857195,9514752,9199507,9110174,8975720,8619474,10958691,17962196,19742326,19860741,19952111,18029348,20211142 6829 NM_001130825,NM_001130824,NM_003169,AC011500,CH471126,AB000516,AB209257,AF040253,AF052165,AK091476,AK295137,AK296117,AK302954,AK303480,BC024203,BP199253,CR609373,CR623112,DB064517,DB097498,U56402,Y12790,NM_001111020 NP_001104490,NP_001124297,NP_001124296,EAW56896,EAW56897,EAW56898,EAW56899,EAW56900,BAA24075,BAD92494,AAD02179,BAG58160,BAG58866,BAG64109,BAG64516,AAH24203,AAC51102,CAA73326,O00267,ABM87794,NP_003160 Hs.631604 FLJ34157|SPT5|SPT5H|Tat-CT1 DRB sensitivity-inducing factor 160 kDa subunit|DRB sensitivity-inducing factor large subunit|DSIF large subunit|DSIF p160|Tat-cotransactivator 1 protein|hSPT5|transcription elongation factor SPT5 protein-coding 1319556 SUPT6H suppressor of Ty 6 homolog (S. cerevisiae) 19141475,8786132,17081983,15489334,15060154,12477932,9514752,9480761,9110174,8724849,8619474,17643375,19615732 6830 NM_003170,AC010761,CH471159,AF070532,AK126585,AL833607,BC003692,BC003696,BC017105,BC033074,BC073963,BC136522,BC136524,BC150268,D79984,U38623,U38658,HI574126 NP_003161,EAW51116,EAW51117,EAW51118,EAW51119,AAC28631,AAH03692,AAH03696,AAH17105,AAH33074,AAH73963,AAI36523,AAI36525,AAI50269,BAA11479,AAC99996,AAB18949,Q7KZ85,CBX47552 Hs.250429 KIAA0162|MGC87943|SPT6|SPT6H|emb-5 hSPT6|tat-CT2 protein|tat-cotransactivator 2 protein|transcription elongation factor SPT6 protein-coding 1602227 SUPT7L suppressor of Ty 7 (S. cerevisiae)-like SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM] 15870280,10987294,18250150,15815621,15728473,15561718,15489334,12477932,11564863,9872452,16169070,17643375,19615732,17141982 9913 NM_014860,AC074091,CH471053,AB018307,AF197954,AF224759,AK000329,AK000616,AK304889,BC045638,BC074000,CR456983,CR616333,CR624870 NP_055675,AAX93202,EAX00556,BAA34484,AAG28523,AAG47636,BAG65625,AAH74000,CAG33264,O94864 Hs.6232 KIAA0764|MGC90306|SPT7L|STAF65|STAF65(gamma)|STAF65G|SUPT7H OTTHUMP00000200852|OTTHUMP00000200853|SPTF-associated factor 65 gamma|STAF65gamma|STAGA complex 65 gamma subunit|STAGA complex 65 subunit gamma|adenocarcinoma antigen ART1|suppressor of Ty 7-like protein-coding 1313667 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) 1580863 12466530,9925937,18063578,18678873,17961633,17373700,17352692,16176273,15919122,15096047,12477932,11154739,7566098,20877624,16385451,19509288,19864255 6832 AK290416,AK299670,BC036112,CR626248,NM_003171,AL596223,CH471083,AF042169 AAB97370,BAF83105,BAH13097,AAH36112,Q8IYB8,ABM81930,ABM85109,NP_003162,CAH71498,CAH71499,EAW54314,EAW54315 Hs.106469 SUV3 ATP-dependent RNA helicase SUPV3L1, mitochondrial|SUV3-like protein 1|suppressor of var1 3-like protein 1|suppressor of var1, 3-like 1(SUV3) protein-coding 732036 SURF1 surfeit 1 This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq] 1580863,1599193 19913121,20601676,20628086,20624914,9843204,19295170,18583168,17908801,16806233,16083427,15764605,15489334,15214016,14607829,14557577,12812953,12538779,12515039,12477932,11955926,11579424,11317352,10746561,10647889,10556303,9740673,8499913,7702754,20436434,19625251,19780766,20201926,20843780,20877624 1599193 6834 AL593848,NM_003172,NG_008477,NG_000837,AC002107,AL158826,CH471090,Y17212,AK291122,BC028314,BC071658,BM542342,Z35093,CR604442,HQ205786,HQ205787,HQ205788,HQ205789,HQ205790,HQ205791,HQ205792,HQ205793,HQ205794,HQ205795,HQ205796,HQ205797,HQ205798,HQ205799,HQ205800,HQ205801,HQ205802,HQ205803,HQ205804,HQ205805,HQ205806,HQ205807,HQ205808,HQ205809,HQ205810,HQ205811,HQ205812,HQ205813,HQ205814,HQ205815,HQ205816,HQ205817,HQ205818,HQ205819,HQ205820,HQ205821,HQ205822,HQ205823,HQ205824,HQ205825 NP_003163,CAI12836,CAI12837,EAW88067,CAA76689,BAF83811,AAH28314,AAH71658,CAA84476,Q15526,Q9UE08,ABM81749,ABM84903,ADP91676,ADP91677,ADP91675,ADP91678,ADP91679,ADP91680,ADP91681,ADP91682,ADP91683,ADP91684,ADP91685,ADP91686,ADP91687,ADP91688,ADP91689,ADP91690,ADP91691,ADP91692,ADP91693,ADP91654,ADP91655,ADP91656,ADP91657,ADP91658,ADP91659,ADP91660,ADP91661,ADP91662,ADP91663,ADP91664,ADP91665,ADP91666,ADP91667,ADP91668,ADP91669,ADP91670,ADP91671,ADP91672,ADP91673,ADP91674 Hs.512464 OTTHUMP00000022474|surfeit locus protein 1 protein-coding 1345081 SURF2 surfeit 2 This gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. The gene shares a bidirectional promoter with SURF1, which is located on the opposite strand. The function of the encoded protein from this housekeeping gene has not yet been determined. [provided by RefSeq] 19913121,20628086,17081983,16341674,15489334,15342556,12477932,9740673,8499913,7702754,16169070,18482256,19615732 6835 AL593848,NM_017503,NG_000837,AC004530,AL158826,CH471090,Y17214,BC014411,BM789997,BP244646,BQ672017,CR456753,Z35094 NP_059973,CAI12838,EAW88068,EAW88069,EAW88070,AAH14411,CAG33034,CAA84477,Q15527,ABM83521,ABM86745 Hs.159448 SURF-2 surfeit locus protein 2 protein-coding 1322534 SURF4 surfeit 4 This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein containing multiple putative transmembrane regions. In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). The specific function of this protein has not been determined but its yeast homolog is directly required for packaging glycosylated pro-alpha-factor into COPII vesicles. This gene uses multiple polyadenylation sites, resulting in transcript length variation. The existence of alternatively spliced transcript variants has been suggested, but their validity has not been determined. [provided by RefSeq] 1580863 19913121,20628086,17353931,15308636,18287528,16381901,15489336,15489334,12477932,11230166,11076863,10931946,9740673,8499913,7540914,20379614 6836 NG_000837,AC004530,AL158826,CH471090,Y17214,AF078866,AF078867,AK026646,AK293434,AK295435,AK299656,AK300004,AK301737,AK303309,AK310333,AK315488,AK316480,BC018741,BC111023,NM_033161,BM148022,BX647961,CR597826,CR600443,CR600613,CR601022,CR602588,CR607990,Y14820,AL593848 NP_149351,CAI12839,CAI12840,CAI12841,EAW88071,EAW88072,EAW88073,EAW88074,CAA76692,AAD44498,AAD44499,BAH11504,BAH12067,BAH13091,BAH13190,BAH13544,BAH13939,BAG37872,BAH14851,AAH18741,CAA75099,O15260,Q5T8U5,Q5T8U7,ABM82950,ABM86142,AAI11024,CAL37785 Hs.512465 ERV29|FLJ22993|MGC102753 surface 4 integral membrane protein|surfeit locus protein 4 protein-coding 1316549 SURF6 surfeit 6 This gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. The gene demonstrates features of a housekeeping gene, being ubiquitously expressed, and the encoded protein has been localized to the nucleolus. The protein includes motifs found in both the mouse and fish orthologs, which suggests a putative function as a nucleolar-matrix protein with nucleic acid-binding properties, based on characteristics determined in mouse. [provided by RefSeq] 1580863 15629442,10675619,15635413,15489334,14702039,12477932,11891058,11790298,9740673,9548374,8889548,8639267,8499913 6838 NM_006753,NG_000837,AC002107,AF186772,AJ224639,AL158826,CH471090,AI085033,AK054884,BC003001,BC006197,BC014878,BM451240,BM676548,CD104374,CR599878,CR617292,CR617587,CR618042,AL772161,CR626491 NP_006744,AAD56587,CAA12054,CAI12825,EAW88055,BAG51440,AAH03001,AAH06197,AAH14878,ACE87307,O75683,ACE86626 Hs.274430 FLJ30322|RRP14 surfeit locus protein 6 protein-coding 2902595 SURF6P1 surfeit 6 pseudogene 1 9847074 643470 AC006999,NG_016547 pseudo 1315881 SUSD1 sushi domain containing 1 737633 17362836,16263699,15489334,15231748,15164053,14702039,12975309,12477932,20583170 737633 64420 NM_022486,AL138756,AL158824,CH471105,AK025486,AK056704,AK292868,AL137432,AY358746,BC021125,BC052314,BC060770,BX362255 NP_071931,CAI95299,CAI95300,CAI95301,CAI12347,CAI12348,EAW59093,EAW59094,EAW59095,EAW59096,EAW59097,EAW59098,BAB15149,BAB71259,BAF85557,CAB70735,AAQ89106,AAH21125,AAH52314,AAH60770,Q4VXJ3,Q6UWL2 Hs.494827 RP11-4O1.1 OTTHUMP00000021926|sushi domain-containing protein 1 protein-coding 1318458 SUSD2 sushi domain containing 2 737633 17353931,18029348,16335952,15489334,14702039,12477932,10591208 737633 56241 NM_019601,AP000353,CH471095,Z92546,AK026431,AK126105,BC033107,BI822588 NP_062547,EAW59641,EAW59642,CAB62953,BAB15481,AAH33107,Q9UGT4 Hs.131819 BK65A6.2|FLJ22778 Sushi domain (SCR repeat) containing|sushi domain-containing protein 2 protein-coding 2290509 SUSD2P1 sushi domain containing 2 pseudogene 1 729568 NG_008830,AP000552 pseudo 2301771 SUSD2P2 sushi domain containing 2 pseudogene 2 729450 NG_008328,AC023490 pseudo 1322117 SUSD3 sushi domain containing 3 737633 12477932,12975309,15489334,15164053 737633 203328 NM_145006,AL451065,CH471089,AK128289,AY358190,BC014601,BC041834 NP_659443,CAI95108,EAW62848,EAW62849,AAQ88557,AAH14601,AAH41834,Q96L08,ABM84950,ABW03639 Hs.88417 MGC26847 sushi domain-containing protein 3 protein-coding 1605987 SUSD4 sushi domain containing 4 20237496,16344560,14702039,12975309,12477932,20348246 55061 AK295553,AK296923,AY358495,BC004888,BF446433,DA125047,EF560748,NM_017982,NM_001037175,AL359733,AL359979,CH471100,AK000914,AK096265 BAH12105,BAH12455,AAQ88859,AAH04888,ABQ59058,Q5VX71,NP_060452,NP_001032252,CAH73991,CAH73992,CAI12801,CAI12802,EAW93257,EAW93258,EAW93259,EAW93260,EAW93261,BAA91421,BAG53242 Hs.497841 FLJ10052|PRO222|RP11-239E10.4 OTTHUMP00000036037|YHGM196|sushi domain-containing protein 4 protein-coding 1607061 SUSD5 sushi domain containing 5 16641997,9628581 26032 NM_015551,AC123900,AB011099,AK295869 NP_056366,BAA25453,BAG58668,O60279 Hs.196647 KIAA0527 OTTHUMP00000208759|sushi domain-containing protein 5 protein-coding 1348120 SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) This gene is a member of the suppressor of variegation 3-9 homolog family and encodes a protein with a chromodomain and a C-terminal SET domain. This nuclear protein moves to the centromeres during mitosis and functions as a histone methyltransferase, methylating Lys-9 of histone H3. Overall, it plays a vital role in heterochromatin organization, chromosome segregation, and mitotic progression. [provided by RefSeq] 1580863 10949293,10202156,11242053,12711603,18485871,19218236,18619962,17657744,17245432,17172641,17081983,16858404,16818776,16652147,16519522,16449642,16409643,16103223,15772651,15489334,15220403,15120635,15107829,14765126,12917624,12789259,12723694,12711675,12588981,12565857,12477932,12242305,12101246,11867540,11788710,11533237,11484059,11252719,10873456,10848615,10779362,10671371,9373149,8125298,7760804,20588255,16189514,12399542,14985713,17245431,19581932,19776757,17085482,18004385,16688220,17707234,18648073,18655152 6839 NG_012530,A58331,AF196970,CH471224,AF019968,AK223071,AK297566,AK298233,AK299900,AK312547,AW327567,BC006238,BG024540,CR541746,CR595067,CR609770,L08238,NM_003173 O43463,Q14828,ABM83534,ABM86774,NP_003164,CAA03483,EAW50756,EAW50757,AAB92224,BAD96791,BAG59958,BAG60502,BAG61742,BAG35445,AAH06238,CAG46546,AAA59592 Hs.522639 KMT1A|MG44|SUV39H H3-K9-HMTase 1|Su(var)3-9 homolog 1|histone H3-K9 methyltransferase 1|histone-lysine N-methyltransferase SUV39H1|histone-lysine N-methyltransferase, H3 lysine-9 specific 1|lysine N-methyltransferase 1A|position-effect variegation 3-9 homolog protein-coding 1315884 SUV39H2 suppressor of variegation 3-9 homolog 2 (Drosophila) 1359810,1580863 17474147,20084102,10949293,18231586,16774942,16189514,15489334,15164054,15107829,14765126,14702039,12477932,11094092,9373149,8125298,16169070,16344560 1359810 79723 NM_024670,AC069544,AL360083,CH471072,AK027067,AK222565,AK225369,AL834488,BC007754,BC029360,CR457372,CR590158,CR600204,CR602124,CR607132,CR615952,DB040298,BU928392,NM_001193424,NM_001193425,NM_001193426,NM_001193427,NR_034181 NP_078946,CAI40028,CAI40029,CAI40030,CAI40031,CAI40032,EAW86253,EAW86254,EAW86255,EAW86256,EAW86257,BAB15645,CAD39146,AAH07754,AAH29360,CAG33653,Q5JSS2,Q9H5I1,ABM87014,ABW03850,NP_001180353,NP_001180354,NP_001180355,NP_001180356 Hs.554883 FLJ23414|KMT1B H3-K9-HMTase 2|OTTHUMP00000019182|histone H3-K9 methyltransferase 2|histone-lysine N-methyltransferase SUV39H2|lysine N-methyltransferase 1B|su(var)3-9 homolog 2 protein-coding 1348608 SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila) This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 17353931,19074285,16322686,15489334,14702039,12477932,11401438,10810093,9373149,8889548,8125298,17707234,18296440 51111 NM_017635,NM_016028,AP002992,CH471076,AF151843,AF264782,AI659791,AK000046,AK025183,AK025461,AK026428,AK225203,AK299201,AK314336,AL512763,BC002522,BC065287,BC087834,BC098121,BC099714,BC103498,BC104483,BC108304,BG697990,BM152996,BM719058,CR590861,CR598995,BC012933 NP_060105,NP_057112,EAW74697,EAW74698,EAW74699,EAW74700,EAW74701,AAD34080,AAG36937,BAA90905,BAH12968,CAC21680,AAH02522,AAH12933,AAH65287,AAH87834,AAH98121,AAH99714,AAI03499,AAI04484,Q4FZB7 Hs.632120 CGI-85|CGI85|KMT5B|MGC118906|MGC118909|MGC21161|MGC703 C630029K18Rik|OTTHUMP00000197482|OTTHUMP00000197484|OTTHUMP00000197487|OTTHUMP00000197488|OTTHUMP00000197489|histone-lysine N-methyltransferase SUV420H1|lysine N-methyltransferase 5B|su(var)4-20 homolog 1|suv4-20h1 protein-coding 1346503 SUV420H2 suppressor of variegation 4-20 homolog 2 (Drosophila) 737633 17672918,16322686,15498874,15489334,12477932,15145825,15750587,18296440,19448619,19486527 737633 84787 NM_032701,AC020922,CH471135,AF289582,AK308586,AW248704,BC005842,BC019313,BC044889,CR612424 NP_116090,EAW72364,EAW72365,EAW72366,AAL55766,AAH05842,AAH19313,AAH44889,Q86Y97 Hs.590982 FLJ98627|KMT5C|MGC2705 histone-lysine N-methyltransferase SUV420H2|lysine N-methyltransferase 5C|su(var)4-20 homolog 2|suv4-20h2 protein-coding 1344509 SUZ12 suppressor of zeste 12 homolog (Drosophila) This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq] 1580863 19542872,18784248,18772439,18753137,18628979,18077430,17970752,17667554,17632510,17542650,17406994,17197920,17081983,16712789,16630818,16224021,15489334,15302935,15257518,15225548,15043312,12843325,12477932,12435631,12351676,11564866,11546753,11371647,8590280,14536086,20832727,19578722,19026780,19026781,16431907,19454010,20211142,20558579,15385962,20616235,15882624,17560333,18453536,18519590,18662993,18931660,19749796,19847889,20123894 23512 NM_015355,NG_009237,AC090616,AC129917,CH471147,AK074333,AK290014,BC015704,BC018583,D63881,DB501687,ES313164 NP_056170,EAW80258,BAF82703,AAH15704,BAA09931,Q15022 Hs.462732 CHET9|JJAZ1|KIAA0160 chET 9 protein|chromatin precipitated E2F target 9 protein|joined to JAZF1 protein|polycomb protein SUZ12|suppressor of zeste 12 protein homolog protein-coding 1604136 SUZ12P suppressor of zeste 12 homolog pseudogene 19291764,17999360,12477932 440423 NR_024187,AC127024,BC041912,BC047718 Hs.628886 pseudo 1604842 SV2A synaptic vesicle glycoprotein 2A 18029348,11256614,19399787,18977120,18524768,18391951,16710414,16381901,16344560,16303743,15822905,15489336,15489334,15342556,15210974,12477932,11230166,11076863,10617638,10611374,9872452,7681585,1519064,19220410,20167814 9900 NM_014849,AL591493,CH471121,CQ819355,AB018279,AK075480,AK291718,AK303161,BC000776,BC034038,BC045111,BP214143,BX537754,CR592758,DA334809 NP_055664,CAI12572,CAI12573,EAW53596,EAW53597,EAW53598,CAG34345,BAA34456,BAC11645,BAF84407,BAG64262,AAH00776,AAH45111,CAD97824,Q7L0J3,CAL38455,ACE87176,ACE86495 Hs.516153 KIAA0736|SV2 OTTHUMP00000014066|synaptic vesicle glycoprotein 2A protein-coding 1343420 SV2B synaptic vesicle glycoprotein 2B 634183 19913121,20628086,19043545,18977120,18524768,18367154,15489334,15466855,12477932,10624962,9872452,9110174,8619474,7681585,14702039,20379614 634183 9899 NM_014848,AC123784,AC127520,CH471101,CQ819357,AB018278,AF052188,AK294902,AL110287,BC030011,CR457086,AK054975,AK124722,AL109781,BG717862,DC333069,FJ515843,NM_001167580 NP_055663,EAX02143,CAG34346,BAA34455,BAG57991,AAH30011,CAG33367,Q7L1I2,ABM82540,ABW03391,ACS13737,NP_001161052 Hs.21754 FLJ30413|FLJ42732|HsT19680|KIAA0735 OTTHUMP00000194749|synaptic vesicle glycoprotein 2B|synaptic vesicle protein 2B homolog protein-coding 1346779 SV2C synaptic vesicle glycoprotein 2C 634114 18977120,15489334,14702039,12477932,10470851,9801366,15466855,20379614 634114 22987 NM_014979,AC026774,AC108091,AC113404,CH471084,CQ819359,AB028977,AK094917,BC100824,BC100825,BC100826,BC100827 NP_055794,EAW95771,EAW95772,CAG34347,BAA83006,BAG52953,AAI00825,AAI00826,AAI00827,AAI00828,Q496J9 Hs.663229 MGC118874|MGC118875|MGC118876|MGC118877 OTTHUMP00000221934|synaptic vesicle glycoprotein 2C|synaptic vesicle protein 2C protein-coding 1350967 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 16206243,14702039,12477932,11062057,10737800,20236627,15231748,18029348,18711365,20361209,20379614 79987 DV080389,AL158158,AL354982,AL592463,AJ619977,AK023591,AK027870,AK075200,AK075234,AK075235,AK122605,AL832416,AY243503,AY916667,BC030816,BC039727,BC047729,BF368046,BU077276,BX106110,BX537918,BX538049,NM_153366,CR608856,CX165144,DR008048 Q4LDE5,NP_699197,CAI14068,CAI14071,CAH74138,CAH74139,CAH73557,CAH73558,CAF04067,BAB14617,BAB55420,BAG52083,BAG52091,BAC11489,BAG53619,AAQ89957,AAX12481,AAH30816,CAD97901,CAD97988 Hs.606771,Hs.726867 C9orf13|CCP22|FLJ16013|FLJ90719|POLYDOM|SEL-OB|SELOB CCP module-containing protein 22|OTTHUMP00000021897|chromosome 9 open reading frame 13|selectin-like osteoblast-derived protein|selectin-like protein|serologically defined breast cancer antigen NY-BR-38|sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 protein-coding 1314924 SVIL supervillin This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Two transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq] 1580863 18029348,12711699,9867483,19109420,19047128,19010793,18984674,18639526,17925381,17081983,16880273,15383618,15324660,15302935,14702039,12917436,12477932,12202484,11977079,11792840,11707406,10362542,9382871,16169070,16385451,19683541,20331534,20379614,20309963 6840 NM_003174,NM_021738,AL158167,AL159170,AL160060,CH471072,AF051850,AF051851,AF109135,AI028650,AK001792,AK302077,AK304720,AK304799,AK307640,AK310272,AL117410,BC092440,BX457194,BX648589,CR613317 NP_003165,NP_068506,CAI15236,CAI15237,CAH71300,CAH71301,EAW86018,EAW86019,EAW86020,AAC64695,AAC64696,AAD14682,BAG63466,BAG65483,BAG65549,CAH56399,AAH92440,CAH56147,O95425,Q569J5,Q63HL8,Q659E9,AAI72362 Hs.499209 DKFZp686A17191 archvillin|membrane-associated F-actin binding protein p205|p205/p250|supervillin protein-coding 2306136 SVIP small VCP/p97-interacting protein 18793143,17872946,14702039,12529442,19615732 258010 NM_148893,AC006299,CH471064,AF527534,AK095023,AL833119 NP_683691,EAW68312,EAW68313,EAW68315,AAM88869,Q8NHG7 Hs.349096 DKFZp313A2432 small VCP/p97-interacting protein protein-coding 732263 SVOP SV2 related protein homolog (rat) 12477932,17714910 55530 NM_018711,AC087893,CH471054,CQ819361,AK309780,AL359592,BC033587,BC094722,AC174068 NP_061181,EAW97839,EAW97840,EAW97841,CAG34348,CAB94878,AAH33587,AAH94722,Q8N4V2,ACT64461 Hs.4221 DKFZp761H039 SV2-related protein|synaptic vesicle 2-related protein protein-coding 1603906 SVOPL SVOP-like 17714910,12477932 136306 BC036796,BX648789,NM_001139456,NM_174959,AC013429,AC020983,CH236950,CH471070 EAW83890,AAH36796,Q8N434,NP_001132928,NP_777619,EAW83887,EAW83888,EAW83889 Hs.99414 MGC46715 OTTHUMP00000208836|OTTHUMP00000208838|SV2 related protein homolog-like|SV2-related protein-like|SVOP-like protein|putative transporter SVOPL protein-coding 1352606 SVS1 seminal vesicle secretion 1 6841 1343293 SVS2 seminal vesicle secretion 2 634192 634192 6842 J05443 1346414 SVS8 seminal vesicle secretion 8 12354160 337958 AF055981 1604631 SWAP70 SWAP switching B-cell complex 70kDa subunit 17371938,16547421,16418221,16344560,15489334,14702039,12925760,12477932,11726218,10681448,9734811,9642267,12421765,20800603,18029348 23075 NM_015055,AC011979,AC026250,CH471064,AB014540,AF134894,AF161439,AF210818,AK027131,AK096859,AK304104,AL110154,BC000134,BC000616,DA413747 NP_055870,EAW68582,EAW68583,EAW68584,EAW68585,BAA31615,AAF61403,AAF28999,AAF24486,BAG53381,BAG65007,AAH00616,Q9UH65 Hs.153026 FLJ39540|HSPC321|KIAA0640|SWAP-70 switch-associated protein 70 protein-coding 1353710 SYAP1 synapse associated protein 1, SAP47 homolog (Drosophila) 18029348,17081983,16964243,15489334,15302935,14702039,12549212,12477932,11483580,9373149,8125298,16344560 94056 CH471074,AK314675,BC001468,BC014657,CR614733,CR749849,NM_032796,AL445467,AF168955,AF305828,AF338728,AK027401,AK126173,AK222856,AK295322,AK303783,AA829759,DB047379,DB577454,NG_016374,NR_033181 BAG37229,AAH14657,CAH18697,Q53GS5,Q96A49,ACE87132,NP_116185,CAI40087,EAW98917,AAK81893,AAK55531,AAK69273,BAB55087,BAD96576,BAG58299,BAG64741 Hs.725350 DKFZp686K221|FLJ14495|FLJ44185|PRO3113 SAP47 homolog|synapse associated protein 1, SAP47 homolog|synapse-associated protein 1 protein-coding 1352832 SYCE1 synaptonemal complex central element protein 1 737633 15944401,16344560,15489334,15164054,12477932,11829491,17207965 737633 93426 NM_130784,NM_001143763,NM_001143764,AL161645,AY028079,CH471211,AK314978,AY027807,AY027808,BC034821,CR609441,DB053356,DB303602,DB336153 NP_570140,NP_001137235,NP_001137236,CAH70048,AAK21976,EAW61359,EAW61360,BAG37477,AAK14796,AAK14797,AAH34821,Q8N0S2,ADQ32490 Hs.553795 C10orf94|CT76|RP11-108K14.6|bA108K14.6 cancer/testis antigen 76|synaptonemal complex central element protein 1 protein-coding 2902459 SYCE1L synaptonemal complex central element protein 1-like 16328886 100130958 AC009139,BC035731,NM_001129979 A8MT33,NP_001123451 Hs.635157 MRP2 meiosis-related protein|synaptonemal complex central element protein 1-like protein-coding 1603348 SYCE2 synaptonemal complex central element protein 2 15944401,17339376,15489334,15057824,14702039,12477932,19913121,20628086 256126 NM_001105578,AC092069,AD000092,AK097443,AK302373,BC035819,CR620067,DB449708 NP_001099048,BAG63695,AAH35819,Q6PIF2,AAI72302 Hs.655173 CESC1 central element synaptonemal complex 1|central element synaptonemal complex protein 1|synaptonemal complex central element protein 2 protein-coding 1604473 SYCN syncollin 12477932,11839820 342898 NM_001080468,AC011443,AK130951,BC039541,BC121075,BC121076 NP_001073937,AAI21076,AAI21077,Q0VAF6 Hs.124123 FLJ27441|INSSA1|SYL insulin synthesis associated 1|insulin synthesis-associated protein 1|syncollin protein-coding 1347800 SYCP1 synaptonemal complex protein 1 1580863 9560255,9371398,9119375,20800603,1464329,15944401,16030183,12477932,11149944,20378615 6847 NM_003176,AL358372,AL645502,AA868393,AF273043,AK315268,BC026162,BC065190,BC105299,BC126266,BC144019,BC144020,BG772129,D67035,X95654,CH471122 NP_003167,CAH72847,CAH72848,CAH70064,EAW56621,EAW56622,EAW56623,EAW56624,AAG34903,AAI05300,AAI26267,AAI44020,BAA22586,CAA64956,Q15431,Q3MHC4,Q5VXJ5,Q9H2G7 Hs.112743 CT8|HOM-TES-14|MGC104417|SCP1 OTTHUMP00000013878|SCP-1|cancer/testis antigen 8|synaptonemal complex protein 1 protein-coding 1347912 SYCP1L2 synaptonemal complex protein 1-like 2 6848 1351298 SYCP1L3 synaptonemal complex protein 1-like 3 6849 69483 SYCP2 synaptonemal complex protein 2 The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq] 69387,1580863 9592139,10341103,12477932,11780052,20378615 69387 10388 NM_014258,AL109928,AL158092,CH471077,AK308889,AL080226,BC040566,BC132864,BC132870,BC146798,BQ575787,BX648091,BX649108,Y08982 NP_055073,CAI21795,CAC36022,EAW75426,EAW75427,CAB45780,AAH40566,AAI32865,AAI32871,AAI46799,CAA70171,Q8IWA1,Q9BX26 Hs.202676 SCP2 OTTHUMP00000031430|OTTHUMP00000174469|SCP-2|hsSCP2|synaptonemal complex lateral element protein|synaptonemal complex protein 2 protein-coding 1604969 SYCP2L synaptonemal complex protein 2-like 16344560,12477932,19448621 221711 NM_001040274,AL121955,AL357497,CH471087,AI027433,AK128130,AM293674,BC012225,DA620756,DB077181 NP_001035364,CAI22075,CAI16226,EAW55288,BAC87288,CAL25570,AAH12225,Q5T4T6 Hs.95600 C6orf177|NO145|dJ62D2.1 145 kDa nucleolar protein homolog|SCP-2-like|hsNO145|synaptonemal complex protein 2-like protein-coding 733070 SYCP3 synaptonemal complex protein 3 1580863 11329013,20339291,20395201,15218256,14643120,19110213,18256545,17434513,16824523,16213863,15489334,14702039,12759374,12477932,12213195,11591653,10854409 50511 BG201028,BG202454,NG_021181,NM_001177948,NM_001177949,NM_153694,AC063950,CH471054,AF492003,AF517774,AI015251,AK125930,BC062662,BQ428625 NP_001171419,NP_001171420,NP_710161,EAW97678,EAW97679,EAW97680,EAW97681,AAN06611,AAP47204,AAH62662,Q8IZU3 Hs.506504 COR1|MGC71888|SCP3 OTTHUMP00000196388|OTTHUMP00000196389|OTTHUMP00000196390|synaptonemal complex protein 3 protein-coding 1602201 SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 14702039,12477932 85360 NM_033025,AC004794,CH471106,AF209931,AK023573,AK123686,AK128870,AK315453,BC018942,BC029926 NP_149014,AAC18917,EAW84461,EAW84462,EAW84463,AAF22843,BAB14612,BAC85676,BAG37840,AAH18942,AAH29926,O60432,Q6ZW31,Q9UH66 Hs.528701,Hs.706845 7h3|FLJ13511 protein syd-1 homolog 1|rho GTPase-activating protein SYDE1|synapse defective protein 1 homolog 1 protein-coding 1602090 SYDE2 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 14702039 84144 AL834286,NM_032184,AL603750,AK023877 CAD38960,Q5VT97,NP_115560,CAH72669,CAH72670,BAB14711 Hs.670497 FLJ13815|RP11-33E12.1 OTTHUMP00000063302|protein syd-1 homolog 2|rho GTPase-activating protein SYDE2|synapse defective protein 1 homolog 2 protein-coding 1603674 SYF2 SYF2 homolog, RNA splicing factor (S. cerevisiae) This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 11118353,16951160,16710414,15489334,12477932,11991638,11230166,11256614 25949 NM_207170,NM_015484,NG_003255,AL031432,CH471134,AF273089,AI311782,AK303582,AK314859,AL080166,BC010862,BC015824,BF057608,BG390792,BI668848,CR598464,CR600253,CV806249,DR155437 NP_997053,NP_056299,CAB37991,CAI21417,EAW95152,EAW95153,EAW95154,EAW95155,AAG42073,BAG64600,BAG37375,CAB45754,AAH10862,O95926,ABM81589,ABW03276 Hs.20013 CBPIN|DKFZp564O2082|NTC31|P29|fSAP29 CCNDBP1 interactor|CCNDBP1-interactor|GCIP-interacting protein p29|functional spliceosome-associated protein 29|pre-mRNA-splicing factor SYF2 protein-coding 1344880 SYF2P SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 317778 NG_002474,AL117355 CBPINP|SYF2P ccndbp1 interactor pseudogene pseudo 3516428 SYF2P2 SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 2 100128275 AL355377,NG_021644 pseudo 736160 SYK spleen tyrosine kinase 1580863 20201079,15577829,20014315,20528870,16938345,20401456,20668539,12885943,8627166,9280292,10963601,7477352,8163536,8176201,18029348,19464057,19435818,19296913,19248119,19195024,19151749,19150851,19122653,19092849,19018007,18945214,18818202,18715989,18715866,18564921,18485118,18420802,18401419,18362147,18206515,18189269,18178826,18052078,18022864,18006696,17874182,17721605,17693136,17681949,17675521,17507237,17506820,17346310,17228323,17145863,17130299,17110603,17082600,17070777,16964403,16921024,16888096,16849645,16754322,16501050,16474166,16449524,16371508,16344560,16289966,16085052,15956283,15955106,15795233,15754322,15744341,15707999,15701717,15670211,15583006,15557085,15536084,15507431,15489334,15467722,15388330,15345594,15337524,15188513,15166239,15163542,15144186,15143214,15062056,15059847,15059510,14702039,14699155,14646171,12907655,12881490,12771181,12711606,12709437,12522270,12477932,12477728,12470302,12453414,12447358,12445683,12393431,12387735,12359715,12209081,12096713,12095152,12009018,11988077,11964172,11895767,11782428,11744621,11714793,11676469,11672534,11598012,11536198,11514608,11441091,11418661,11390470,11356834,11313252,11226282,11163197,11162638,11141335,11133830,11046148,10981967,10942405,10933389,10872802,10862713,10825200,10790433,10748099,10747947,10689303,10540342,10482988,10469124,10449770,10209036,10072516,10066823,10023776,10022120,9891970,9891087,9857068,9852052,9846481,9820500,9710204,9698567,9695951,9590268,9535867,9490415,9388490,12682251,9295288,9342235,9218456,9169439,9120258,9104825,9096689,8986718,8885868,8798764,8756631,8666899,8657103,8636079,8630736,8629002,8621719,8617742,8590001,8197119,8168854,8082894,8071371,7895172,7831290,7761456,7682059,7600304,7592872,7539035,7538118,7513161,7513017,7500027,3198621,2065070,1998697,1689310,1569106,1423621,9268059,12051764,11368773,10940905,11331248,8900182,16640565,10961871,9590210,12435267,16118313,16291755,16713566,18803050,19297020,19421152,19436043,19477690,19530990,19535334,19549911,19553680,19581935,19776763,19783684,19800574,19829710,19889729,19893036,19909739,19965664,20013945,20068106,20133729,20154219,20236696,20379614,20439541,21086786,20956537,20585042 6850 X73568,Z29630,NM_003177,NM_001135052,AL354862,CH471089,AJ420449,AK057772,AK075020,AK094808,AK290927,AL832053,BC001645,BC002962,BC011399,BG754228,BX647192,CR606511,DA587403,DA948098,DB458719,FN391891,FN391892,FN391893,L28824,S80267,NG_017046,NM_001174167,NM_001174168,W33104 AAB35601,CAA51970,CAA82737,P43405,Q13196,NP_003168,NP_001128524,EAW62782,EAW62783,EAW62784,EAW62785,EAW62786,BAG52053,BAF83616,AAH01645,AAH02962,AAH11399,CAY55929,CAY55930,CAY55931,AAA36526,NP_001167638,NP_001167639 Hs.371720 DKFZp313N1010|FLJ25043|FLJ37489 tyrosine-protein kinase SYK protein-coding 1342491 SYM1 symphalangism 1 (proximal) 9634519 1351051 SYM2 symphalangism 2 (distal) 6852 1315523 SYMPK symplekin This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq] 1580863 20823274,20861839,8769423,19328795,17880531,17158914,16344560,16230528,15550246,15489334,15302935,14707147,14533737,12477932,11181995,10669729,10413599,9700202,9585442,9330635,18688255,20133805,20601676 8189 AC008623,AC092301,CH471126,AB209024,AB210010,AF049526,AK130602,AK300252,BC006536,BC006567,BC030214,BU752018,BX649165,CR625930,DB044963,DB461873,U49240,U88726,Y10931,NM_004819 CAA71861,O75402,Q4LE61,Q92797,Q96B47,ABM84373,ABW03562,NP_004810,EAW57389,EAW57390,EAW57391,EAW57392,EAW57393,BAD92261,BAE06092,AAC27504,BAH13243,AAH06536,AAH06567,AAH30214,AAC50667,AAB58578 Hs.515475 FLJ27092|SPK|SYM symplekin protein-coding 731422 SYN1 synapsin I This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 19913121,20628086,9645429,9463375,9395448,8702879,8430330,8287627,8022809,3118371,3095840,2506642,2118519,1905928,1905878,12456676,20700059,20921223,2110562,19086053,18029348,16169070,15822905,15772651,15345747,15147519,14985377,14673601,12477932,12438562,12237306,11867766,10899172,10725920,10578110,10571231,10386995,10358015,19301426 6853 NM_006950,NM_133499,NG_008437,AL009172,CH471164,M55301,M58321,M58341,M58351,M58353,M58359,M58371,M58372,M58373,M58374,M58375,M58376,M58377,M58378,Z84466,AI929645,AL833961,BC036711,BC048799 NP_008881,NP_598006,CAI42445,CAI42446,EAW59313,EAW59314,AAA60608,AAC41931,AAC41930,CAI42461,CAI42462,P17600 Hs.225936 SYN1a|SYN1b|SYNI brain protein 4.1|synapsin 1|synapsin-1 protein-coding 736267 SYN2 synapsin II This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. The TIMP4 gene is located within an intron of this gene and is transcribed in the opposite direction. Mutations in this gene may be associated with abnormal presynaptic function and schizophrenia. Alternative splicing of this gene results in two transcripts. [provided by RefSeq] 1580863 19913121,20628086,8964517,18372903,17913586,17766091,16131404,15449241,15271586,14702039,12477932,11867766,11571277,10578110,10571231,10565545,10358015,9463375,9430678,8530057,8430330,7592648,16712791,2506642,10820264,19665806,20034013,20379614 6854 AK307469,BC040661,BC051307,CB155277,U40215,NM_003178,NG_011728,AC022234,AC026166,AC091492,CH471055,X89851,AB209088,AF077671,AF077737,AK091286,AK094464,AK295431,NM_133625 AAH51307,AAC50718,Q15530,Q59GM1,Q86VA8,Q92777,NP_598328,NP_003169,EAW64117,EAW64118,EAW64119,EAW64120,EAW64121,CAA61949,BAD92325,AAC28368,AAC33789,BAG52325,BAG52870,BAG58374 Hs.445503 SYNII|SYNIIa|SYNIIb OTTHUMP00000222077|synapsin-2 protein-coding 736491 SYN3 synapsin III This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq] 1580863 18583979,19766700,20379614,20471030,9539796,19102774,18755822,17567994,17413450,17366345,16511335,15900227,15489334,15461802,14732590,12477932,11867766,11840510,10591208,10582583,10578110,10358015,19913121,20677014,20385819,20385826 8224 NM_133633,NM_003490,NM_001135774,AL021452,AL023282,AL031592,CH471095,Z71183,Z80902,Z82181,Z82246,Z83846,Z98256,AB209684,AF046873,AI095028,AK300171,BC075065,BC075066,BC117460,BC143874,CR456589,DB458758,DQ655947 NP_598344,NP_003481,NP_001129246,EAW60029,EAW60030,EAW60031,EAW60032,EAW60033,EAW60034,EAW60035,EAW60036,EAW60037,CAB63144,CAI18794,CAI18771,CAI18775,CAB62947,CAI95433,CAB10915,BAD92921,AAC15101,BAG61952,AAH75065,AAH75066,AAI17461,AAI43875,CAG30475,O14994,Q17R54,Q4TT46,Q59EX7,CAK54620,CAK54919,ADR83222 Hs.608750 OTTHUMP00000028987|cN28H9.2 (synapsin III)|synapsin 3|synapsin-3 protein-coding 1346585 SYNC syncoilin, intermediate filament protein This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16429158,16124004,12477932,11694502,11053421,7566098,20199207,20587592 81493 AA376455,AI752560,AK024707,AK297958,AK302275,BC119700,BC119701,DC355889,DC398945,DN991289,NM_030786,NM_001161708,NG_012421,AC114489,CH471059 EAX07511,EAX07512,BAB14970,BAG60270,BAG63620,AAI19701,AAI19702,Q9H7C4,NP_110413,NP_001155180 Hs.712631 MGC149625|MGC149626|SYNC1|SYNCOILIN intermediate filament protein syncoilin|syncoilin|syncoilin intermediate filament 1|syncoilin, intermediate filament 1|syncoilin-1 protein-coding 1313857 SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein 1580863 9847309,12674497,17353931,19232660,19137262,18794368,17010310,16765914,16344560,15635413,15489334,15479637,15475564,15340051,14702039,14574404,12601080,12477932,12388589,12376575,11994298,11991638,11773003,11574476,11352648,11134005,11051545,10734137,9731529,9373149,8125298,9341187,12183049,17643375,19029303,19808671,17289661 10492 NM_001159673,NM_001159674,NM_001159675,NM_001159676,NM_001159677,AL136082,CH471051,AB209098,AF037448,AF155568,AK056188,AK222776,AK294212,AK299796,NM_006372,AK313572,AY034481,AY034482,AY034483,BC009176,BC015575,BC021932,BC024283,BC032643,BC040844,BF221524,CR589962,CR602322,CR605141,CR611039,CR624033,CR624770,DA117533,DA845413,DB160837 NP_006363,NP_001153145,NP_001153146,NP_001153147,NP_001153148,NP_001153149,CAI20446,CAI20447,CAI20448,EAW48622,EAW48623,EAW48624,EAW48625,EAW48626,EAW48627,EAW48628,EAW48629,EAW48630,BAD92335,AAC12926,AAD38198,BAD96496,BAH11699,BAH13131,BAG36345,AAK59703,AAK59704,AAK59705,AAH15575,AAH24283,AAH32643,AAH40844,O60506,Q05CK9,Q59GL1,Q5TCG1 Hs.571177,Hs.472056 FLJ31626|GRY-RBP|GRYRBP|HNRPQ1|NSAP1|PP68|dJ3J17.2|hnRNP-Q NS1-associated protein 1|glycine- and tyrosine-rich RNA-binding protein|heterogeneous nuclear ribonucleoprotein Q|hnRNP Q|synaptotagmin-binding, cytoplasmic RNA-interacting protein protein-coding 1348942 SYNE1 spectrin repeat containing, nuclear envelope 1 This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 12408964,11801724,12808039,11792814,10878022,18827015,18709643,18649358,17903302,17761684,17503513,17462627,17159980,17081983,16875688,16079285,15093733,14709720,14702039,14574404,12958361,12477932,12358155,12168954,12163176,11214970,10574462,9872452,12812986,20108321,19944109,20655839,20936779,18029348,18396275,18711365,18726349,19542096,20056644,20201924,20351715,20379614 23345 BC150289,BK000543,BX537517,BX537837,BX647837,CR933676,FM162565,NM_182961,NM_033071,NM_015293,NM_133650,AL049548,AL078582,AL136079,AL138832,AL357081,AL450401,AL589963,AL591507,CH471051,AB018339,AB033088,AB051543,AF043290,AF444779,AF495910,AF535142,AK055440,AK056122,AK057959,AK091651,AK094094,AK122691,AK123135,AK127076,AK304825,AK308717,AK310977,AK316101,AL713682,AL833542,AL833657,AY061755,AY061756,AY135172,AY183142,AY184203,AY184206,BC028616,BC039121,BC090927,NG_012855 NP_056108,AAO27771,AAI50290,DAA01060,CAD97770,CAD97849,CAI45971,CAQ57272,Q3ZCV0,Q5BKU8,Q5H9Q3,Q5JRD9,Q5JV20,Q5JV23,Q5VUI5,Q7RTM4,Q7Z3K4,Q7Z3R1,Q8NF91,NP_892006,NP_149062,NP_598411,CAI42743,CAI42282,CAI42283,CAI42284,CAI42784,CAI42785,CAI42786,CAI41322,CAI40727,CAI40728,CAI40729,CAI39952,EAW47727,EAW47728,EAW47729,EAW47730,EAW47731,EAW47732,EAW47733,EAW47734,EAW47735,EAW47736,EAW47737,EAW47738,EAW47739,BAA34516,BAA86576,BAB21847,AAC02992,AAL38031,AAN60442,AAN03486,BAB71097,BAC04284,BAG53670,BAG65573,BAH14472,CAD28486,AAL33798,AAL33799,AAM95335,AAO23669,AAO27774,AAH39121,AAH90927,CAX11977,CAX14914,CAX14915 Hs.12967 8B|ARCA1|C6orf98|CPG2|DKFZp781J13156|EDMD4|FLJ30878|FLJ41140|KIAA0796|KIAA1262|KIAA1756|MYNE1|SCAR8|dJ45H2.2 OTTHUMP00000017438|OTTHUMP00000017440|OTTHUMP00000017441|OTTHUMP00000205471|OTTHUMP00000205472|enaptin|myocyte nuclear envelope protein 1|nesprin 1|nesprin-1|nuclear envelope spectrin repeat protein 1|synaptic nuclear envelope protein 1|synaptic nuclei expressed gene 1 protein-coding 1312719 SYNE2 spectrin repeat containing, nuclear envelope 2 The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20801886,18029348,18396275,19596235,19861416,19933576,20237496,20379614,18827015,18477613,17881656,17761684,17462627,17081983,16344560,16079285,15843432,15790807,15671068,15489334,14702039,12958361,12508121,12477932,12408964,12168954,12118075,11792814,11230166,10878022,10231032,20108321 23224 AF357236,DA825926,DB271849,NM_182914,NM_015180,NM_182913,NM_182910,NG_011756,AL162832,AL355094,AL359235,CH471061,AB023228,AF435010,AF435011,AF495911,AI685725,AK001876,AK074055,AK090430,AK095087,AK095241,AK125715,AK127612,AK128631,AK297874,AK298465,AL080133,AL117404,AY061757,AY061758,AY061759,AY184204,AY184205,AY927627,BC036941,BC042134,BC071873,BC154417,BX537642,BX538095,BX640974,BX648234,CR590112,CR619897,CR749324 AAQ15171,CAH18179,Q68DP1,Q6MZP0,Q7Z362,Q86YP9,Q8WXH0,NP_878918,NP_055995,NP_878917,NP_878914,EAW80838,EAW80839,EAW80840,EAW80841,EAW80842,EAW80843,EAW80844,BAA76855,AAL33547,AAL33548,AAN60443,BAB84881,BAC03411,BAC04506,BAG60199,BAG60678,CAB45729,CAB55905,AAL33800,AAL33801,AAL33802,AAO27772,AAO27773,AAH42134,AAH71873,CAD98013,CAE45988 DKFZp434H2235|DKFZp686E01115|DKFZp686H1931|EDMD5|FLJ11014|FLJ43727|FLJ45710|FLJ46790|KIAA1011|NUA|NUANCE|Nesprin-2|SYNE-2|TROPH nesprin 2|nesprin-2|nuclear envelope spectrin repeat protein 2|nucleus and actin connecting element protein|polytrophin|synaptic nuclear envelope protein 2|synaptic nuclei expressed gene 2 protein-coding 1353044 SYNGAP1 synaptic Ras GTPase activating protein 1 homolog (rat) 1580863 19196676,18323856,16344560,15358237,15312654,15146197,15044063,15014045,14970204,14702039,14574404,12951199,12598599,11782456,11487731,11278737,10862698,9620694,9581761,9405464,1374684,11572484,19483657,19851445,20188038,20531469 8831 NM_006772,AL021366,AL662799,BX088650,CH471081,AK094225,AK307888,AL713634,BM354009,BX282051,CN412954,DA057307,NG_016137 NP_006763,CAA16161,CAI18276,CAM26304,CAM26305,EAX03735,EAX03736,EAX03737,EAX03738,CAD28452,Q96PV0,AAI48358 Hs.586264 DKFZp761G1421|KIAA1938|MRD5|RASA1|RASA5|SYNGAP OTTHUMP00000209046|neuronal RasGAP|ras GTPase-activating protein SynGAP|synaptic Ras GTPase activating protein 1 homolog|synaptic Ras GTPase activating protein, 135kDa|synaptic Ras GTPase-activating protein 1 protein-coding 736639 SYNGR1 synaptogyrin 1 This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq] 1580863 19641478,19665806,9760194,17081065,17049558,16344560,16215643,15489334,15461802,14732601,12477932,11086983,10595519,10591208 9145 NM_145731,NM_145738,AL022326,CH471095,AA412350,AI278583,AJ002303,AJ002304,AJ002305,AK289507,AK295863,AW304782,BC000731,NM_004711,BT007135,BX501388,CR456590,CR592136,CR594457,DA337769,BI667990 CAA18451,NP_004702,NP_663783,NP_663791,CAA18452,EAW60321,EAW60322,EAW60323,EAW60324,CAA05320,CAA05321,CAA05322,BAF82196,BAH12206,AAH00731,AAP35799,CAG30476,O43759,CAK54621,CAK54920,CAA18453 Hs.216226 MGC1939|MGC:1939 synaptogyrin-1 protein-coding 732040 SYNGR2 synaptogyrin 2 This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. [provided by RefSeq] 1580863 9760194,15489334,12975309,12477932,9446595 9144 NM_004710,AC021593,AJ002310,AJ002312,CH471099,AJ002308,AL833010,AY358916,BC000407,BC029755,BC105992,BF198109,CR590958,CR592439,CR593429,CR597088,CR600445,CR601443,CR604119,CR606358,CR610377,CR613790,CR614467,CR616541,CR616951,CR617679,CR618715,CR619412,CR621725,CR623251,CR625067,CR625549 NP_004701,CAA05327,EAW89499,EAW89500,EAW89501,EAW89502,EAW89503,EAW89504,CAA05325,CAH56291,AAQ89275,AAH00407,AAH29755,AAI05993,O43760,Q3KQZ2,ABM82758,ABM85945 Hs.464210 MGC102914 cellugyrin|synaptogyrin-2 protein-coding 1345958 SYNGR2P1 synaptogyrin 2 pseudogene 1 9760194 283698 AC111152,AJ002313,NG_003218 SYNGR2P pseudo 2290517 SYNGR2P2 synaptogyrin 2 pseudogene 2 138916 NG_001541,AL353705 pseudo 1323444 SYNGR3 synaptogyrin 3 This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq] 1580863 14755516,19357284,20224928,9760194,15489334,12477932 9143 NM_004209,AC005606,CH471112,AJ002309,AK313894,BC009568,BC014087,BG699055,CR597024,CR599198,CR604382,CR608497,CR616926,CR617644,CR619180 NP_004200,EAW85577,CAA05326,BAG36617,AAH09568,AAH14087,O43761,Q96L30,ABM83277,ABM86481 Hs.435277 MGC20003|MGC:20003 synaptogyrin-3 protein-coding 1317104 SYNGR4 synaptogyrin 4 This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq] 1580863 12477932,10708517,9760194 23546 AI222412,NM_012451,AC011514,CH471177,AJ011733,BC106891,BG720827 NP_036583,EAW52339,CAA09754,AAI06892,O95473 Hs.408333 MGC125805 synaptogyrin-4 protein-coding 69491 SYNJ1 synaptojanin 1 Synaptojanin 1 is a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking.[supplied by RefSeq] 1580863 9428629,18539136,18281508,17158794,16344560,16137687,15821731,15342556,15261714,14704270,12829691,12805586,12477932,12168954,11443522,11292345,11086983,11082044,10830953,10816441,10773674,10764144,10542231,10373452,10048485,9388224,9341169,9238017,9195986,8889548,7982917 8867 NM_003895,NM_203446,NM_001160302,NM_001160306,AP000275,AP000276,AP000277,AP000278,AP000279,CH471079,AB020717,AF009039,AF009040,AK295706,AK304044,AK307762,AL109818,BC019630,BC067231,BC098395,BC136603,BP350252,CA944966,DB071394,DQ421853,HH768235,FB336896 NP_003886,NP_982271,NP_001153774,NP_001153778,EAX09863,EAX09864,BAA74933,AAC51921,AAC51922,BAG58552,BAG64955,AAH19630,AAH98395,AAI36604,ABD77575,O43426,Q05CZ1,Q1ZYQ4,CBX84866,CAR81404 Hs.473632 INPP5G OTTHUMP00000067396|OTTHUMP00000067399|inositol 5'-phosphatase (synaptojanin 1)|synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1|synaptojanin-1|synaptojanin-1, polyphosphoinositide phosphatase protein-coding 69494 SYNJ2 synaptojanin 2 Synaptojanin-2 is a ubiquitously expressed inositol polyphosphate 5-phosphatase (Malecz et al., 2000 [PubMed 11084340]).[supplied by OMIM] 1300048,1580863 20936779,17474147,16102578,15548694,15489334,14574404,14562116,12805586,12477932,12421765,11498538,11084340,10805734,10357812,9388224,9205841,12456676,15778465,12699622,16344560,17562712 8871 NM_003898,AL139330,CH471051,AB002346,AF039945,AF318616,AK074294,AK294480,AK296242,AK296935,AK309018,AL157424,AY152396,BC043277,BX648749,CR615784,HH768317,FB336978,AF086449,BC042971,DA327619,NM_001178088 AAD02178,NP_003889,CAI12978,CAI12982,CAI12983,CAI12984,EAW47665,EAW47666,EAW47667,BAA20805,AAG46036,BAG57705,BAG58960,BAG59486,AAN73051,AAH43277,O15056,Q5TA15,CBX84907,CAR81445,NP_001171559 Hs.434494 INPP5H|KIAA0348|MGC44422 inositol phosphate 5'-phosphatase 2|synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2|synaptojanin-2 protein-coding 736800 SYNJ2BP synaptojanin 2 binding protein 1580863 19349195,15489334,15451561,15342556,14702039,12477932,11882656,11696420,11673475,10827173,10357812,18029348,20379614 55333 NM_018373,AL356804,CH471061,AK002133,AK123967,AK311719,AY534623,BC007704,BP195583,BQ775922,CR603483,CR622530 NP_060843,EAW81032,EAW81033,BAA92098,AAT01566,AAH07704,P57105 Hs.443661,Hs.704691 ARIP2|FLJ11271|FLJ41973|OMP25 activin receptor interacting protein 5|mitochondrial outer membrane protein 25|synaptojanin-2-binding protein protein-coding 1354169 SYNM synemin, intermediate filament protein The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 11353857,16777071,18028034,18342854,11737198,14552890,18084875,17564317,17081983,16476617,15657940,15318345,12887813,12669240,12477932,11683385,11454237,9205841,20543860,20573469,19853601,20199207 23336 NM_145728,NM_015286,NG_008210,AC036108,CH471101,AB002351,AF359284,AJ310521,AJ310522,AJ697971,AK026420,AL833262,AW292788,BC022358,BC063699,BC110066,BC151243 NP_663780,NP_056101,EAX02230,EAX02231,EAX02232,BAA20810,AAK57487,CAC83858,CAC83859,CAG27071,AAI10067,AAI51244,O15061 Hs.207106 DMN|KIAA0353|SYN desmuslin|synemin|synemin alpha|synemin beta protein-coding 735343 SYNPO synaptopodin Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM] 20936779,20630939,15841212,17255128,17081983,16622418,16564554,16381901,15659229,15592455,15489336,15342556,14702039,12477932,12042308,11230166,11076863,10470851,9314539,7566098,16260903,15343382,11256614,16344560,18596123,19666657,20201926,8681137 11346 NM_007286,NM_001109974,AC008453,AF499138,CH471062,AA303936,AB028952,AF499136,AF499137,AJ278122,AK091066,AK095279,AK127049,AK290178,AL049298,AL049959,AL831818,BC042624,BC142683,BC146665,BC152538,BP237193,Y11072,AC011383,BC113927,BC114512,DA333058,F30246,NM_001166208,NM_001166209 NP_009217,NP_001103444,AAQ07404,EAW61715,EAW61716,BAA82981,AAQ07402,AAQ07403,BAG54430,BAF82867,CAD38532,AAI42684,AAI46666,AAI52539,CAA71955,Q71HJ6,Q8N3V7,CAL37703,CAL38321,NP_001159680,NP_001159681 Hs.435228,Hs.714870,Hs.628761 KIAA1029 synaptopodin protein-coding 1344756 SYNPO2 synaptopodin 2 1580863 20936779,18371299,17828378,16381901,15489336,15111326,12917631,12637565,12477932,11673475,11256614,11230166,11076863,8593614,20554076,19360353,20332099 171024 AL833547,BC136256,BC150629,BX647849,BX648090,CR606797,CR936673,EU481975,FN422000,NM_001128933,NM_001128934,AC096745,AC107048,AC108030,AF177291,AJ010482,AK000774,AK296962,AK304121,AK307711,AL832031,AL832363,AL833294,NM_133477 AAI36257,AAI50630,ACC93875,CAZ66141,Q9UMS6,CAL37726,CAL38729,NP_597734,NP_001122405,NP_001122406,AAD55264,CAB51856,BAG59506,BAG65020 Hs.655519 DKFZp686G051 OTTHUMP00000222246|genethonin 2|genethonin-2|myopodin|synaptopodin-2 protein-coding 1348800 SYNPO2L synaptopodin 2-like 1580863 15164054,14702039,12477932,8889549,16385451 79933 NM_024875,NM_001114133,AC073389,CH471083,AA176924,AB188489,AK022983,AK095931,BC131776,BC142635,BX502518,W92641,AK295873 NP_079151,NP_001107605,EAW54507,EAW54508,BAD37139,BAB14346,BAG53169,AAI31777,AAI42636,Q9H987,BAG58671 Hs.645273 FLJ12921 synaptopodin 2-like protein protein-coding 731737 SYNPR synaptoporin 1580863 20379614,16381901,16344560,15489336,15489334,14702039,12974474,12740598,12477932,12271488,11230166,11076863,8034131 132204 NM_144642,NM_001130003,AC099056,AC099545,AC104436,CH471055,AF411860,AK122831,AK293628,AK309017,AK312465,AK315958,AL834457,BC022518,CR936762,DA505318 NP_653243,NP_001123475,EAW65413,EAW65414,AAN03681,BAG53750,BAH11552,BAG35372,BAH14329,CAD39117,AAH22518,Q8TBG9,CAL37973,ACE87198,ACE86519 Hs.648668 DKFZp686G0883|MGC26651|SPO OTTHUMP00000213288|OTTHUMP00000213291|OTTHUMP00000213292|OTTHUMP00000213294|synaptoporin|synaptorin protein-coding 1348030 SYNRG synergin, gamma This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq] 631945,1580863 12176391,12042876,10814529,9653655,8889549,10777571,10747088,10477754,18815278,16344560,16162817,15758025,15489334,15302935,14702039,12808037,12538641,12477932 631945 11276 NM_080550,NM_007247,NM_001163544,NM_001163545,NM_001163546,NM_001163547,NM_198882,AC004099,AC091199,CH471199,AF169548,AK025335,AK025700,AK091801,AK126988,AK302821,AK308292,BC084536,BC090930,BC117313,BC143452,BC143476,BC143478,BG120023,CB053470,DB085203,N93929 NP_542117,NP_009178,NP_001157016,NP_001157017,NP_001157018,NP_001157019,NP_942583,EAW57594,EAW57595,EAW57596,EAW57597,EAW57598,AAD49732,BAG64019,AAH90930,AAI17314,AAI43477,AAI43479,Q9UMZ2 Hs.594647 AP1GBP1|FLJ34482|MGC104959|SYNG AP1 gamma subunit binding protein 1|AP1 subunit gamma-binding protein 1|OTTHUMP00000217674|OTTHUMP00000217675|adaptor-related protein complex 1 gamma subunit-binding protein 1|gamma-synergin|synergin gamma protein-coding 737494 SYP synaptophysin Synaptophysin (p38) is an integral membrane protein of small synaptic vesicles in brain and endocrine cells.[supplied by OMIM] 730100,1580863 17207965,10595912,10541003,9930883,9889259,9344658,9112016,8772779,8547634,3120152,2163183,1908157,7553862,7534299,10620806,1975480,19652998,18771509,18006193,17916412,17724707,17331077,17005904,16894395,16807900,16721760,16082702,15694236,15489334,14702039,12826904,12701886,12575533,12498786,12493563,12492469,12485399,12477932,12403815,12181340,12137757,12107411,12097487,12077483,11786535,11508360,11472886,11426054,19724850 730100 6855 NM_003179,NG_012532,AF196779,CH471224,U93305,AK094376,AK295524,AK313030,AK315953,BC032385,BC064550,BQ637168,CR599877,CR605904,CR609397,X06389 ADQ32566,NP_003170,EAW50684,EAW50685,AAB92358,BAH12095,BAG35863,BAH14324,AAH64550,CAA29686,P08247 Hs.632804 MRXSYP OTTHUMP00000216753|OTTHUMP00000216756|major synaptic vesicle protein P38|synaptophysin protein-coding 1346991 SYPL1 synaptophysin-like 1 1580863 8034131,18720419,17081065,15489334,14702039,12853948,12690205,12477932,10636906,10370136,9847074,8707851,1730063,17207965 6856 BG719851,BQ429369,CB989012,CR616230,S72481,X61382,X68194,NM_182715,AC005095,CH236947,CH471070,AA969654,AK128279,AK292230,BC016835,BC020938,BC061887,NM_006754 AAB31344,CAA48276,Q16563,ACE87330,ACE86648,NP_006745,NP_874384,AAD50513,EAL24401,EAL24402,EAW83379,EAW83380,EAW83381,BAF84919,AAH16835,AAH20938,AAH61887,ADQ32552 Hs.80919 H-SP1|SYPL OTTHUMP00000212302|pantophysin|synaptophysin-like protein 1 protein-coding 1603517 SYPL2 synaptophysin-like 2 16710414,16344560,14702039,12975309,12477932,20125088,20383146 284612 NM_001040709,AL355145,AL356735,CH471122,AI983207,AK095168,AK131459,AK289513,AK293082,AK301509,AK302566,AY358862,BC110407,BC113102,BC113103,DA097637,DB071160,DB291596,DN831287 NP_001035799,CAI22943,CAH70888,EAW56384,EAW56385,BAD18604,BAF82202,BAF85771,BAG63018,BAG63829,AAQ89221,AAI13103,AAI13104,Q14DL7,Q5VXT5,Q6UWB8 Hs.528366 MG29 mitsugumin 29|mitsugumin-29|synaptophysin-like protein 2 protein-coding 1602841 SYS1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM] 16303743,15077113,12477932,11181995,16344560 90196 NM_033542,AL021578,CH471077,CQ783385,AK075264,AK172738,AK309429,AL449491,AL591714,BC048286,CA417429,CR596680,CR599811,CR605916,CR607560,CR616955,CR623013,CR623457,CR624106,AI041176,BI820996,DA526637,H09823,NM_001099791,NM_001197129 NP_291020,CAI21082,CAI21084,EAW75847,EAW75857,CAF86589,BAC11506,CAC39448,AAH48286,Q5QPU5,Q8N2H4,ACE87579,ACE86892,EAW75851,EAW75856,NP_001093261,NP_001184058 Hs.655055 C20orf169|dJ453C12.4|dJ453C12.4.1 OTTHUMP00000031126|OTTHUMP00000031127|OTTHUMP00000031129|protein SYS1 homolog protein-coding 1642399 SYS1-DBNDD2 SYS1-DBNDD2 readthrough transcript 20967262,12477932,11181995 767557 NR_003189,AL021578,BC023562,CH471077 EAW75855 C20orf169-DBNDD2 miscrna 736944 SYT1 synaptotagmin I The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM] 1580863 20098747,12750892,15082773,11438518,1840599,2446925,19234085,19186144,18937294,17956130,17307723,16344560,15603740,15489334,15466855,14702039,12477932,12135982,12089155,11454741,11438523,11438520,11432880,11381094,11243866,11242035,11181737,10734137,10692432,10397765,9712836,9303303,9010211,8999968,8901523,8889548,8769138,8087843,7798952,7624059,7553862,1326322,12062043,16169070,14709554,16143103,16525042,18779938,19234194,19284995,19557857,19835837,19926819,20222955,20379614,8071310 6857 NM_001135805,NM_005639,NM_001135806,AC027288,AC073570,AC073572,AC073606,AC073616,AC078917,AC090709,CH471054,AK094616,AK126908,AK308743,BC041373,BC051915,BC058917,BM668697,BX647240,CR627387,DA174824,M55047,U19921,CS667539 NP_001129277,NP_005630,NP_001129278,EAW97343,EAW97344,EAW97345,BAG52897,BAG54392,AAH58917,CAH10483,AAA60609,P21579,Q6AI31,CAP07393 Hs.310545 DKFZp781D2042|P65|SVP65|SYT synaptotagmin 1|synaptotagmin-1|sytI protein-coding 1346254 SYT10 synaptotagmin X 15489334,14756426,12477932,10531343 341359 NM_198992,AC016956,AC023158,CH471116,AY198413,BC101024,BC101025 NP_945343,EAW88510,AAP37477,AAI01025,AAI01026,Q495U1,Q6XYQ8 Hs.118703 MGC119436|MGC119437 synaptotagmin 10|synaptotagmin-10|sytX protein-coding 1343002 SYT11 synaptotagmin XI 1580863 19156168,17192956,16344560,16303743,16189514,15489334,15354386,14702039,12925569,12477932,11543631,10734137,7584044,19060904 23208 NM_152280,AL139128,CH471121,AK026178,AK027540,AK074931,AK296378,AU130124,BC004291,BC013690,BC039205,BM801649,CA419920,CR749792,D38522,DA026743,DA239014,AA824539 NP_689493,CAH69948,EAW53025,EAW53026,BAB55186,BAC11300,BAG59052,AAH04291,AAH13690,AAH39205,CAH18653,BAA07527,Q9BT88 Hs.32984 DKFZp781D015|KIAA0080|MGC10881|MGC17226|SYT12|sytXI synaptotagmin 12|synaptotagmin-11 protein-coding 737534 SYT12 synaptotagmin XII The SRG1 gene encodes a protein that is a member of a family of proteins involved in the regulation of transmitter release in the nervous system (Fernandez-Chacon et al., 2001 [PubMed 11242035]). The membrane-associated synaptic SRG1 protein is under thyroid hormone control during brain development (Thompson, 1996 [PubMed 8987811]).[supplied by OMIM] 1580863 15489334,14702039,12477932,11543631,16344560,17190793 91683 NM_177963,AP000729,AP003176,CH471076,AK024280,AK289672,AK289727,AK315810,AL833834,BC037406,DA239473,NM_001177880 NP_808878,EAW74576,BAF82361,BAF82416,BAF98701,CAD38694,AAH37406,Q8IV01,ABM83399,ABM86611,NP_001171351 Hs.287636 SRG1|SYT11|sytXII synaptotagmin-12|synaptotagmin-XII protein-coding 735243 SYT13 synaptotagmin XIII SYT13 belongs to the large synaptotagmin protein family. All synaptotagmins show type I membrane topology, with an extracellular N terminus, a single transmembrane region, and a cytoplasmic C terminus containing tandem C2 domains. Major functions of synaptotagmins include vesicular traffic, exocytosis, and secretion.[supplied by OMIM] 11256614,18202767,16381901,15489336,15342556,12477932,11543631,11230166,11171101,11076863,10718198,15489334,20379614,20840848 57586 AB037848,AJ303362,AK291009,AK308841,AL512743,BC093830,BC093832,BP251101,CR592126,AC103681,AC103736,CH471064,NM_020826 BAA92665,CAC33884,BAF83698,CAC21669,AAH93830,AAH93832,Q7L8C5,CAL38161,NP_065877,EAW68043,EAW68044 Hs.436643 KIAA1427 synaptotagmin 13|synaptotagmin-13|sytXIII protein-coding 1345341 SYT14 synaptotagmin XIV 1580863 20379614,17304550,16710414,15238157,14702039,12801916,12477932 255928 AJ617624,AJ617625,AJ617626,AJ617627,AK091517,BC130323,BC144154,BC144155,BC144157,H85865,NM_001146261,NM_001146262,NM_001146264,NR_027458,NR_027459,AL022397,AL022399,AL513263,CH471100,AB102948,AJ617623,NM_153262 CAE85109,CAE85110,CAE85111,CAE85112,CAE85113,BAC03682,AAI30324,Q8NB59,NP_694994,NP_001139733,NP_001139734,NP_001139736,CAI17887,CAI17888,CAI17889,CAI22770,CAI22771,CAI17884,CAI17885,CAI17886,EAW93434,EAW93435,BAC76809,ADR83228 Hs.658866 FLJ34198|MGC163195|sytXIV OTTHUMP00000034819|OTTHUMP00000035026|synaptotagmin-14 protein-coding 1604910 SYT14L synaptotagmin XIV-like 11543631,16376304,15238157,14702039,12477932 401135 NR_027094,AC096727,CH471057,AJ303368,AY954513,BC132697,BC144378,CR740599 EAX05567,CAC33890,AAX40990 Hs.130270,Hs.712109 CHR415SYT|SYTDEP pseudo 736926 SYT15 synaptotagmin XV This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 14702039,12788067,11739399,11543631,12477932,16344560 83849 NM_031912,AL356056,CH471083,AB109022,AB109023,AI971263,AJ303363,AK127436,AK128634,AK131036,AK290186,AK293632,NM_181519,BC139914,BG402134,AA878734,DB158555 NP_852660,NP_114118,CAH73270,CAH73271,EAW54662,BAC76817,BAC76818,CAC33885,BAC86979,BAC85479,BAF82875,BAG57088,AAI39915,Q9BQS2 Hs.696346 CHR10SYT|sytXV OTTHUMP00000221137|chr10 synaptotagmin|synaptotagmin XV-a|synaptotagmin-15 protein-coding 1346455 SYT16 synaptotagmin XVI 737633 16946482,15489334,15238157,12801916,12477932,11543631,20379614,20707712 737633 83851 NM_031914,AL356018,AL390816,CH471061,AB102949,AJ303367,AJ617628,AK302919,BC040924,BC117363,BC143598 NP_114120,EAW80812,EAW80813,EAW80814,BAC76810,CAC33889,CAE85114,BAG64084,AAH40924,AAI17364,AAI43599,Q17RD7,ADR83098 Hs.404139 CHR14SYT|SYT14L|Strep14|syt14r|yt14r chr14 synaptotagmin|synaptotagmin 14-like protein|synaptotagmin XIV-like|synaptotagmin XIV-related protein|synaptotagmin xiv-like|synaptotagmin-16 protein-coding 734045 SYT17 synaptotagmin XVII 20379614,16730941,16713569,16672768,16189514,12477932,12107410,10493829 51760 NM_016524,AC003003,AC010494,CH471186,AF220560,AK098747,AK226136,AK296000,BC004518,BQ548827,BQ961069,CA389452,CR595216 NP_057608,AAC05436,EAW50273,EAW50274,AAF37825,BAG58774,AAH04518,Q9BSW7 Hs.258326 B/K protein|protein B/K|synaptotagmin-17|sytXVII protein-coding 735278 SYT2 synaptotagmin II Synaptotagmins, like SYT2, are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (Hilbush and Morgan, 1994 [PubMed 8058779]).[supplied by OMIM] 1580863 7749232,18029348,19234194,2446925,19234085,18639519,16344560,15489334,15350218,14709554,14702039,12477932,12063179,11696368,11381094,10952998,10734137,10330444,8901523,8058779,7961887,19709630 127833 NM_177402,NM_001136504,AC104463,AC118556,CH471067,AK090672,AK094430,AK124510,BC100814,BC100815,BC100816,BC100817,DA098279 NP_796376,NP_001129976,EAW91429,EAW91430,BAC03500,BAC04354,AAI00815,AAI00816,AAI00817,AAI00818,Q8N9I0 Hs.25422 FLJ42519|SytII synaptotagmin 2|synaptotagmin-2 protein-coding 736653 SYT3 synaptotagmin III 1580863 11256614,16381901,15489336,15489334,12477932,11543631,11230166,11076863,10734137,10692432,10531343,8889548,7791877,7749232 84258 NM_032298,NM_001160328,NM_001160329,AC008743,CH471135,AL136594,BC028379,BC031067,BI912995,BM688060,BM710834 NP_115674,NP_001153800,NP_001153801,EAW71887,EAW71888,EAW71889,EAW71890,EAW71891,CAB66529,AAH28379,AAH31067,Q9BQG1,CAL38399,ABM82177,ABM85363 Hs.515554 DKFZp761O132|SytIII synaptotagmin 3|synaptotagmin-3 protein-coding 68582 SYT4 synaptotagmin IV 730127,1580863 19156168,16189514,15489334,12477932,10938284,10734137,10718198,10397765,8058779,7993622,8901523 730127 6860 NM_020783,AC091039,CH471088,AB037763,AF299075,AI912792,AK291154,AK293791,AK297275,AK297379,AK299593,AK299652,AK311335,BC036538,BM311221,DB483932 NP_065834,EAX01433,EAX01434,BAA92580,AAG37229,BAF83843,BAG57204,BAG59747,BAG59821,BAG61525,BAG61571,AAH36538,Q9H2B2,ABW03669 Hs.8059 HsT1192|KIAA1342 synaptotagmin 4|synaptotagmin-4|sytIV protein-coding 731962 SYT5 synaptotagmin V 1580863 20471030,9177789,18029348,16344560,15820774,15489334,14702039,12477932,10734137,10556508,10531343,8901523,7597049,16169070 6861 NM_003180,AC010327,CH471135,X96783,AK125182,AK295337,AK313067,BC029962,BC033683,BC046157,BQ417474,CR597766,DA529870,DQ090951,Y19236 NP_003171,EAW72345,EAW72346,EAW72347,CAA65579,BAG54160,BAH12036,AAH33683,AAH46157,AAY99640,O00445,Q05BS5,Q4FD32 Hs.631566 synaptotagmin 5|synaptotagmin-5|sytV protein-coding 737166 SYT6 synaptotagmin VI Synaptotagmins, such as SYT6, share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains. Some synaptotagmins are involved in synaptic membrane fusion, while others have a more general function in endocytosis. For further information on synaptotagmins, see MIM 185605.[supplied by OMIM] 17207965,18639284,16710414,16111671,14702039,12477932,11543631,11437455,8901523,7791877,10531343,20551332 148281 NM_205848,AL162594,CH471122,AK056448,AK096744,BC044948,CR594520 ADQ33072,NP_995320,CAI18964,CAM27150,CAM27151,CAM27152,EAW56596,EAW56597,EAW56598,BAG51713,AAH44948,Q5T7P8 Hs.370963 OTTHUMP00000195668|synaptotagmin-6|sytVI protein-coding 736086 SYT7 synaptotagmin VII Synaptotagmins, such as SYT7, are brain-specific calcium-dependent phospholipid-binding proteins that play a role in synaptic exocytosis and neurotransmitter release. See MIM 600782.[supplied by OMIM] 2311143,2311148,1580863 12477932,12071850,11342594,10734137,10613842,10556508,9615227,8901523,8889548,7791877,19913121,20628086 2311143 9066 NM_004200,AP002754,AP003108,AP003559,CH471076,AF038535,AK294636,AL137559,BC042495,BC125170,BC125171,BE644642,BM679451,CR612685,Y19237,Y19238,Y19239,Y19240 NP_004191,EAW73953,EAW73954,EAW73955,EAW73956,EAW73957,AAB92667,BAG57815,AAI25171,O43581 Hs.502730,Hs.684589 IPCA-7|MGC150517|PCANAP7|SYT-VII prostate cancer associated protein 7|prostate cancer-associated protein 7|synaptotagmin 7|synaptotagmin-7|sytVII protein-coding 1347431 SYT8 synaptotagmin VIII Synaptotagmins, such as SYT8, share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains. Some synaptotagmins are involved in synaptic membrane fusion, while others have a more general function in endocytosis. For further information on synaptotagmins, see MIM 185605.[supplied by OMIM] 61762,1580863 19913121,20628086,20379614,14702039,12477932,7791877,10734137 61762 90019 NM_138567,AC051649,CH471158,CQ783293,AK075202,AK131292,AK293395,AY353087,BC038591,BC144657,BC144659,BC144660,BC144661,BX396540,CR596759,CR601912,CR619379,CR622425,AL137708 NP_612634,EAX02465,EAX02466,CAF86504,BAC11467,BAD18463,BAG56904,AAQ57209,Q6ZNB2,Q8NBV8,CAB70885,AAI60127 Hs.161031 DKFZp434K0322 OTTHUMP00000011603|OTTHUMP00000069337|synaptotagmin 8|synaptotagmin-8|sytVIII protein-coding 1354462 SYT9 synaptotagmin IX 2311148,2311147,1580863 10734137,15489334,15066994,14702039,12966166,12477932,12062430,12062043,11751925,11543631,8901523,20379614 2311147 143425 AC060799,NM_175733,AC027804,AC107884,CH471064,AK055003,AK055929,AK127795,AK315013,AL137512,BC029605,BC046367 NP_783860,EAW68659,BAG51449,BAG37505,AAH29605,AAH46367,Q86SS6,Q8NCP8 Hs.177193 FLJ45896 synaptotagmin-9|sytIX protein-coding 1321784 SYTL1 synaptotagmin-like 1 1580863 18266782,17200145,16004602,15489334,14702039,12477932,12137562,11773082,11278853,11980908,12590134,11243866,16344560,8889548,19528539 84958 AL663123,CH471059,AK027902,AK074154,AK096437,AK097172,AK126120,AK293038,AY037157,BC009224,BC015764,NM_032872,CR590979,CR595955,CR604153,CR609080,CR612838,CR626119,BC035725,CB851688,DA435960,DA948740,NM_001193308 NP_116261,CAI14781,CAI14782,CAI14783,CAI14786,EAX07759,EAX07760,EAX07761,EAX07762,BAB55444,BAB84980,BAC04970,BAF85727,AAK67636,AAH09224,AAH15764,AAH35725,Q5SSC6,Q5SSD0,Q5SSD1,Q8IYJ3,Q8N880,Q8TEH0,ABM82143,ABM85326,NP_001180237 Hs.469175 FLJ14996|JFC1|SLP1 NADPH oxidase-related, C2 domain-containing protein|exophilin-7|synaptotagmin-like protein 1 protein-coding 1316959 SYTL2 synaptotagmin-like 2 The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 17207965,20729199,17182843,18812475,18832576,18266782,17672918,16344560,16303743,15489334,15231748,14702039,12590134,12477932,11773082,11543631,11327731,11243866,10997877,10865129,10737800,9373149,8976547,8125298,11980908,17643375,18940603 54843 NM_206928,NM_206927,NM_206930,NM_206929,NM_032379,NM_001162951,NM_001162952,NM_001162953,AP000642,CH471076,CQ783637,AB046817,AJ303364,AK000170,NM_032943,AP000974,AK056722,AK074737,AK092121,AK124754,AK127504,AK131365,AK222707,AK222710,AK296224,AK296740,AK298604,AL601023,AL706957,AY386362,BC015540,BC068495,BC110315,BC136450,BC144114,BC144115,BQ308382,BX647671,BX648068,CB046277,CR595112,DA344600,DA378461,DA449325,EU035829,AL834422,AK024872 NP_116561,NP_996811,NP_996810,NP_996813,NP_996812,NP_115755,NP_001156423,NP_001156424,NP_001156425,EAW75107,EAW75108,EAW75109,EAW75110,EAW75111,EAW75112,EAW75113,CAF86787,BAB13423,CAC33886,BAA90989,ADQ32299,BAC11170,BAG52485,BAC85937,BAC87010,BAD18516,BAG58947,BAG59325,BAG60788,BAB15030,CAD39083,AAR25619,AAH15540,AAI10316,AAI36451,AAI44115,AAI44116,ABV82746,Q6ZSE3,Q9BQS1,Q9HCH5 Hs.369520 CHR11SYT|EXO4|FLJ21219|FLJ34802|FLJ42764|FLJ45597|KIAA1597|MGC102768|SGA72M|SLP2|SLP2A breast cancer-associated antigen SGA-72M|chromosome 11 synaptotagmin|exophilin-4|synaptotagmin-like protein 2 protein-coding 1352944 SYTL3 synaptotagmin-like 3 16344560,14702039,12590134,12477932,11773082,11243866,19913121,20628086 94120 AL589931,CH471051,AI674404,AK055750,AK092729,AK131092,AK298712,AK304191,BC042966,NM_001009991,BC085612,BC100828,BC100829,BC100830,BC100831,CR613848,DB175440 NP_001009991,CAI95305,EAW47648,EAW47649,EAW47650,EAW47651,EAW47652,EAW47653,EAW47654,BAC85142,BAG60868,BAG65071,AAH85612,AAI00831,AAI00832,Q4VX76,Q6ZNK2 Hs.436977 MGC105130|MGC118883|MGC118884|MGC118885|SLP3 exophilin-6|synaptotagmin-like protein 3 protein-coding 734138 SYTL4 synaptotagmin-like 4 1580863 17081983,16831872,16344560,16189514,15772651,15563604,15489334,15342556,14702039,12665801,12590134,12477932,12176990,12101244,11956164,11865063,11773082,10497219,19615732 94121 NM_001129896,NM_080737,AL391688,CH471115,Z73900,AF302493,AK098279,AK292588,AK313086,BC014913,BP354718,BX537410,DB285556,AL832596,NG_016858,NM_001174068,AL391689 NP_001123368,NP_542775,CAI41007,CAI41008,EAX02813,EAX02814,EAX02815,CAI42004,CAI42005,AAQ14492,BAG53606,BAF85277,BAG35911,AAH14913,CAD97652,Q71SF7,Q96C24,CAI46126,NP_001167539 Hs.592224 DKFZp451P0116|FLJ40960|SLP4 OTTHUMP00000023654|OTTHUMP00000023655|exophilin-2|granuphilin-a|synaptotagmin-like protein 4 protein-coding 736279 SYTL5 synaptotagmin-like 5 1580863 16630545,12477932,12051743,12590134,20932654 94122 NM_138780,NM_001163334,NM_001163335,AL121578,CH471141,AB080222,AK125106,AL135038,BC131585,BX647688,NG_013265 NP_620135,NP_001156806,NP_001156807,EAW59448,EAW59449,EAW59450,BAB88906,AAI31586,Q8TDW5 Hs.662334 slp5 OTTHUMP00000031916|exophilin 9|synaptotagmin 15|synaptotagmin-like protein 5 protein-coding 1603603 SYVN1 synovial apoptosis inhibitor 1, synoviolin This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. This gene and the mitochondrial ribosomal protein L49 gene use in their respective 3' UTRs some of the same genomic sequence. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq] 17157811,17872946,19828134,19835843,19864457,20237263,11256614,18369366,19690564,12459480,18029348,19443960,19116932,18664523,18502753,18344614,18314878,18264092,18235538,17967421,17582219,17170702,17141218,17059562,16847254,16802346,16786162,16713569,16289116,16186510,16186509,15489334,14593114,12975321,12646171,12477932,11347906,20606367,20519503 84447 BC035473,NM_032431,AP003068,CH471076,AA864844,AB058713,AB085847,AF317634,AK074148,AK126912,AL834262,BC013860,BC030530,NM_172230 Q86TM6,Q8TEH6,AAI41663,ABW03727,ABW03387,ABZ92145,NP_757385,NP_115807,EAW74357,EAW74358,EAW74359,EAW74360,EAW74361,EAW74362,BAB47439,BAC24801,AAL26903,BAB84974,BAG54394,CAD38937,AAH30530 Hs.75859 HRD1|KIAA1810|MGC40372 E3 ubiquitin-protein ligase synoviolin protein-coding 1320869 T T, brachyury homolog (mouse) The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. [provided by RefSeq] 1580863 20602751,18301055,17273972,14574404,12477932,12000749,8963900,18820665,10768863,8733136,1516477,20670140,18466071,11897834,18593560,19801981 6862 NM_003181,NG_012135,AL627443,CH471051,AJ001699,BC039877,BC098425,BG436736,HI638829 NP_003172,CAI14269,EAW47538,EAW47539,CAA04938,AAH98425,O15178,Q4KMP4,CBX55887 Hs.389457 MGC104817|TFT OTTHUMP00000017588|T brachyury homolog|T brachyury-like|brachyury protein|protein T protein-coding 1346236 TAAR1 trace amine associated receptor 1 TAAR1 is a G protein-coupled receptor activated by trace amines. Trace amines are endogenous amine compounds that account for less than 1% of the biogenic amines in most brain regions (Bunzow et al., 2001 [PubMed 11723224]).[supplied by OMIM] 634071,1580863 21073468,18577758,17900709,16878137,15718104,15489334,14574404,12477932,11723224,11459929,18240029,18602830,19892733,12036966 634071 134864 NM_138327,AF200627,AF380185,AL513524,CH471051,AY180374,BC101825,BC112194 NP_612200,AAG17112,AAK71236,CAH72104,EAW48021,AAO22154,AAI01826,AAI12195,Q96RJ0 Hs.375030 MGC126874|MGC138399|RP11-295F4.9|TA1|TAR1|TRAR1 taR-1|trace amine receptor 1|trace amine-associated receptor 1 protein-coding 1606827 TAAR2 trace amine associated receptor 2 10684976,16878137,15718104,15489334,14574404,12477932,18240029 9287 NM_001033080,NM_014626,AF112460,AL513524,CH471051,E13892,AY702304,AY703480,BC067461,BC067462,BC067463,DN693314 NP_001028252,NP_055441,AAF27278,CAH72103,EAW48024,AAV70122,AAV70150,AAH67461,AAH67462,AAH67463,Q9P1P5,AAI40325,AAI48689 Hs.272382 GPR58 G protein-coupled receptor 58|G-protein coupled receptor 58|OTTHUMP00000017225|taR-2|trace amine receptor 2|trace amine-associated receptor 2 protein-coding 1343570 TAAR3 trace amine associated receptor 3 (gene/pseudogene) 632893,1580863 10684976,16878137,15718104,12477932,14559210,15891052,18240029,19325074,20210993 632893 9288 AF112461,AF112462,AL513524,AY702305,BC095548,NR_028511 AAF27279,Q9P1P4 Hs.679662 GPR57|GPR58|TAAR2 g protein-coupled receptor 57 pseudo 1605473 TAAR4P trace amine associated receptor 4 pseudogene 19325074,18085818,16878137,15718104,9473609,20210993 503612 NG_004855,AL513524,U88828 pseudo 1603706 TAAR5 trace amine associated receptor 5 9464258,16878137,15718104,15489334,14574404,12477932,18240029,20559446 9038 BC112209,BC112211,NM_003967,AL513524,AY702306,CH471051,AF021818,BC069171,BC095541,FJ372547 AAI12210,AAI12212,O14804,NP_003958,CAH72100,AAV70123,EAW48025,AAC39581,AAH69171,AAH95541,ACP18682 Hs.248198 MGC138414|MGC138416|PNR|RP11-295F4.5 putative neurotransmitter receptor|taR-5|trace amine receptor 5|trace amine-associated receptor 5 protein-coding 1348964 TAAR6 trace amine associated receptor 6 The TAAR6 (TRAR4) gene belongs to the trace amine receptor family. Trace amines are endogenous amine compounds that are chemically similar to classic biogenic amines like dopamine, norepinephrine, serotonin, and histamine. Trace amines were thought to be 'false transmitters' that displace classic biogenic amines from their storage and act on transporters in a fashion similar to the amphetamines, but the identification of brain receptors specific to trace amines indicates that they also have effects of their own (Duan et al., 2004 [PubMed 15329799]).[supplied by OMIM] 634071,1580863 18240029,19643584,19766166,20493543,19582769,15718104,19345712,18978678,18973992,18628684,18583103,18198266,17957234,17895926,17505468,17097106,16878137,16189505,16075187,15489334,15329799,14574404,12477932,11459929,9674972,9226366 634071 319100 NG_016544,NM_175067,AF380192,AL513524,CH471051,AY183470,BC069157 NP_778237,AAK71243,CAH72099,EAW48026,AAO24661,AAH69157,Q96RI8 Hs.434196 RP11-295F4.3|SCZD5|TA4|TAR4|TAR6|TRAR4 taR-4|taR-6|trace amine receptor 4|trace amine receptor 6|trace amine-associated receptor 6 protein-coding 1605474 TAAR7P trace amine associated receptor 7 pseudogene 16878137,15718104,16584120 503611 NG_004854,AL513524,AY803193 pseudo 1345308 TAAR8 trace amine associated receptor 8 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 634071,1580863 15718104,16878137,16584120,14574404,12477932,11574155,11459929,15489334,18240029 634071 83551 NM_053278,AF380193,AF411116,AL513524,CH471051,AY183468,BC069166 NP_444508,AAK71244,AAL26487,CAH72098,EAW48027,AAO24659,AAH69166,Q969N4 Hs.350571 GPR102|TA5|TAR5|TRAR5|TaR-5|TaR-8 G protein-coupled receptor 102|G-protein coupled receptor 102|trace amine receptor 5|trace amine receptor 8|trace amine-associated receptor 8 protein-coding 1352345 TAAR9 trace amine associated receptor 9 TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 15718104,16878137,14559210,12477932,11459929,18240029,20006992 134860 NM_175057,AF380189,AL513524,CH471051,AY183469,BC069083 NP_778227,AAK71240,EAW48028,AAO24660,Q96RI9,AAI60069 Hs.434116 TA3|TAR3|TAR9|TRAR3 OTTHUMP00000206472|trace amine receptor 3|trace amine receptor 9|trace amine-associated receptor 9 protein-coding 2974954 TAB3P1 TGF-beta activated kinase 1/MAP3K7 binding protein 3 pseudogene 1 643199 AC005820,NG_005581 pseudo 619560 TAC1 tachykinin, precursor 1 This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2304260,2304275,2304320,2305984,2304321,2304327,2304337,1580863 19913121,20417061,20526012,20628086,9482938,8957234,1708336,9548509,19598235,19381016,19279355,19258923,19246391,19207952,19086053,19046942,19036058,18990442,18615578,18599605,18507649,18363037,18316470,18289674,18211417,18197882,18179473,18061399,17975140,17949241,17940602,17855557,17709376,17703412,17667845,17655760,17588657,17494790,17450584,17448763,17409218,17376622,17370082,17264209,17257983,17175032,16952549,16877367,16816831,16503654,15899028,15761654,15729363,15690122,15544859,15489334,15358539,15130944,14749007,14703707,14589248,14564346,14532289,12871824,12854086,12752772,12705477,12690205,12686752,12603817,12578734,12548712,12528114,12486316,12477932,12383866,12382579,11950831,11921119,11591789,11342427,11160316,11113362,11104584,10491292,10189055,9847074,9846828,9655475,9373149,9272936,8702757,8125298,7961636,7692486,3770210,3038549,2284201,11919172,11786503,16169070,20580442,1312203,18577758,11278902,19200949,19695094,19812951,19855234,19874574,19885583,19909213,20029189,20173430,20207019,20237496,20347265,20468064,20503287,20497485,20861424,20529207,16754659 2304260,2304275,2304320,2305984,2304321,2304327,2304337 6863 NM_013996,NM_013997,NM_013998,AC004140,CH236949,CH471091,AF050655,AF050656,AF050657,AF050658,AK222957,BC018047,CR407602,CR541730,DN992454,M68906,M68907,U37529,X54469,NM_003182 NP_003173,NP_054702,NP_054703,NP_054704,AAQ96888,AAQ96889,AAQ96890,AAQ96891,EAL24116,EAL24117,EAL24118,EAL24119,EAW76734,EAW76735,EAW76736,EAW76737,EAW76738,AAC15701,AAC15702,AAC15703,AAC15704,BAD96677,AAH18047,CAG28529,CAG46531,AAA60159,AAA60160,AAA79195,CAA38351,P20366,Q9Y494,ABM83016,ABM86209 Hs.2563 Hs.2563|NK2|NKNA|NPK|TAC2 OTTHUMP00000204986|PPT|neurokinin 1|neurokinin 2|neurokinin A|neurokinin alpha|neuromedin L|neuropeptide K|neuropeptide gamma|protachykinin-1|substance K|substance P|tachykinin 2|tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) protein-coding 1353248 TAC3 tachykinin 3 70033,2305983,1580863 20580442,11231038,10189055,8990205,8702757,7961636,3479225,1708331,16169070,10866201,19086053,19079066,18614256,18240076,17976896,17561251,17448763,17175032,16709596,15489334,15317475,15123623,14700748,14634580,12975309,12727971,12477932,15342556,19539370,20074343,20176081,20194706,20332248,20389091,18577758,20529119,16754659 70033,2305983 6866 NM_013251,AC026120,AM179832,CH471054,AF186112,AF216586,AF537113,AF537114,AF537115,AF537116,AF537117,AF537118,AF537119,AF537120,AF537121,AY358679,BC032145,CR457193,CR620932,BE500999,BP212420,NG_021398,NM_001178054,NR_033654 NP_037383,CAJ47374,EAW96972,EAW96973,EAW96974,EAW96975,EAW96976,EAW96977,EAW96978,EAW96979,EAW96980,AAF01430,AAF76980,AAQ10783,AAQ10784,AAQ10785,AAQ10786,AAQ10787,AAQ10788,AAQ10789,AAQ10790,AAQ10791,AAQ89042,AAH32145,CAG33474,Q2UVB8,Q7Z4W6,Q9UHF0,ABM83185,ABM86387,NP_001171525 Hs.9730 NKB|NKNB|PRO1155|ZNEUROK1 OTTHUMP00000211123|OTTHUMP00000211124|OTTHUMP00000211125|OTTHUMP00000211127|OTTHUMP00000211128|gamma tachykinin 3|neurokinin B-like|neuromedin K|preprotachykinin B|tachykinin-3 protein-coding 735700 TAC4 tachykinin 4 (hemokinin) This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 727210 11062498,10737800,19081134,17175032,16931167,15224188,12716968,12477932,12383518,11786503,20580442 727210 255061 NM_001077505,NM_001077503,NM_001077504,NM_001077506,AC027801,BD086009,CH471109,AF515828,AF515829,AF515830,AF515831,AF521560,NM_170685,AY471574,BC100840,BC100841,BC100842,BC100843,BC111857,BC111858 NP_733786,NP_001070973,NP_001070971,NP_001070972,NP_001070974,EAW94657,AAP30874,AAP30875,AAP30876,AAP30877,AAN77128,AAS46596,AAI00841,AAI00843,AAI00844,Q86UU9 Hs.652130 EK|HK-1|MGC133009|MGC133010|PPT-C endokinin|hemokinin|preprotachykinin C|preprotachykinin-C|tachykinin 4|tachykinin-4 protein-coding 1342908 TACC1 transforming, acidic coiled-coil containing protein 1 This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11903063,12165861,14603251,15064709,18984771,17081983,16496324,16344560,15592455,15489334,15207008,14767476,14702039,12547166,12477932,12389629,12087473,11121038,10470851,10435627,10366448,19176389,14602875,20078863,20508983,18029348,20734064 6867 NM_001122824,NM_001146216,AC016813,AC067817,CH471080,AB029026,AF049910,AF075051,AK124297,AK294931,NM_006283,BC041391,BX647696,CR605417,DA553264,DB084271,AK295841,AK303596,AK304507,AK304725,AK304774,AK308849,AK314620,AY039239,AY072873,AY072874,AY072875,AY072876,AY139007,AY177411,AK295071 NP_006274,NP_001116296,NP_001139688,EAW63293,EAW63294,EAW63295,EAW63296,EAW63297,EAW63298,BAA83055,AAC32327,BAG58010,AAO53446,AAH41391,CAI46025,O75410,Q5HYH0,Q8IUJ5,BAG58118,BAH12199,BAG64611,BAG65314,BAG65488,BAG65529,BAG37186,AAK68658,AAL62460,AAL62461,AAL62462,AAL62463,AAN28955 Hs.279245,Hs.721516 DKFZp686K18126|FLJ42304|Ga55|KIAA1103 gastric cancer antigen Ga55|taxin 1|taxin-1|transforming acidic coiled-coil-containing protein 1 protein-coding 1349981 TACC2 transforming, acidic coiled-coil containing protein 2 Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15207008,18519826,16964243,15489334,15304323,15164054,14767476,14702039,12711550,12620397,12477932,11161455,11121038,10749935,10637228,10435627,10366448,16169070,20335520,14602875,16385451,19671663,20379614,20508983 10579 NM_206860,NM_206862,NM_206861,NM_006997,AC063960,AL135793,AL731566,CH471066,AF095791,AF176646,AF220152,AF528098,AF528099,AK027066,AK056743,AK075097,AK094848,AK095371,AL713712,AL833304,BC000999,BC010219,BC015736,BC029124,BC031036,BC039311,BC141837,BC142673,BC144599,BC150627,AK295631,BC144600 NP_996744,NP_996743,NP_008928,NP_996742,CAI95126,CAI95127,CAI95128,CAI95129,CAI95130,CAI95131,CAI95132,CAI95134,EAW49325,AAC64968,AAF63433,AAF29537,AAO62629,AAO62630,CAD28509,AAH00999,AAH39311,AAI44600,AAI50628,O95359,Q4VXL2,Q4VXL4,Q4VXL5,Q4VXL8,AAI44601,BAH12132 Hs.501252,Hs.713875 AZU-1|ECTACC OTTHUMP00000020643|OTTHUMP00000020644|OTTHUMP00000020646|OTTHUMP00000035135|OTTHUMP00000217061|OTTHUMP00000217062|OTTHUMP00000217063|OTTHUMP00000217064|anti zuai-1|anti-Zuai-1|transforming acidic coiled-coil-containing protein 2 protein-coding 1353438 TACC3 transforming, acidic coiled-coil containing protein 3 The function of this gene has not yet been determined; however, it is speculated that it may be involved in cell growth and differentiation. Expression of this gene is up-regulated in some cancer cell lines, and in embryonic day 15 in mice. [provided by RefSeq] 20566684,16410616,20729911,17914111,17675670,16964243,15489334,15302935,14767476,12927788,12711550,12477932,12389629,12015314,11847113,11298601,11121038,10366448,9373149,8125298,14602875,17060449,19148534,19823035,20056645,20348956,20508983,18029348,20972438 10460 NM_006342,AC016773,CH471131,M63005,M63480,AF093543,AF479620,AJ243997,AK225631,AK302463,AK304579,AK310660,BC106071,BC111771,CR591833,CR606211,CR621870,CR624101 NP_006333,EAW82574,EAW82575,AAD25964,AAN76993,CAB53009,BAG63753,BAG65367,AAI06072,AAI11772,Q2NKK4,Q8IX09,Q9Y6A5 Hs.104019 ERIC1|MGC117382|MGC133242 ERIC-1|transforming acidic coiled-coil-containing protein 3 protein-coding 1602721 TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I TACO1 is a mitochondrial translational activator required for efficient translation of cytochrome c oxidase (COX) subunit I (MTCO1; MIM 516030) (Weraarpachai et al., 2009), a component of complex IV of the mitochondrial respiratory complex.[supplied by OMIM] 19503089,16189514,15489334,14702039,12477932,20727754,17207965,18029348,20877624 51204 NM_016360,AC046185,AC113554,CH471109,AK094052,AK315375,AL833861,BC005049,BC007744,CR595383,CR619833,NG_016979 NP_057444,EAW94302,EAW94303,EAW94304,BAC04273,BAG37768,CAD38719,AAH05049,AAH07744,Q8N9Q7,Q9BSH4,ADQ32448 Hs.174134 CCDC44 clone HQ0477 PRO0477p|coiled-coil domain-containing protein 44|translational activator of cytochrome c oxidase 1 protein-coding 731008 TACR1 tachykinin receptor 1 This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq] 2304260,2304266,2304275,2304250,2304258,2304327,2304276,2304321,1626451,2304320,2304339,2304340 17667845,17602742,17563389,17525212,17448763,17443717,17370082,17050807,17023511,16901764,16893949,16815618,16675550,16670094,16618119,16344560,16305827,16154193,16123103,17713785,15690122,15664664,15590676,15489334,15452552,15130944,14601651,12810079,12752772,12727971,12686752,12594338,12548712,12528114,12477932,12427486,12393913,12383866,12151774,12147210,12130725,12067742,11950831,11906947,11864635,11857684,11786503,11698023,9754802,9733503,8384323,7782081,7692486,2548782,1883349,1723045,1718267,1659396,1374227,1312928,1310144,1281469,1280161,8702757,17986524,8985172,1657150,9537323,10854844,10611312,19222484,19207952,19086053,19036058,18835556,18713853,18572194,18452185,18394729,18363037,18289674,18203813,18187929,18180429,18085301,15452121,18095097,19204064,19351798,19545476,19553914,19670001,19805509,19885583,19903051,20008142,20021265,20074437,20117843,20137858,20173430,20237496,20379614,20398908,20468064,16754659 2304260,2304266,2304275,2304250,2304258,2304327,2304276,2304321,1626451,2304320,2304339,2304340 6869 NM_001058,NM_015727,AC007400,AC007681,CH471053,X65177,AK289765,AW206679,AY462098,BC074911,BC074912,BC095528,DB203452,M74290,M76675,M81797,M84425,M84426,S62045 NP_001049,NP_056542,AAY15031,AAY14950,EAW99595,EAW99596,CAA46292,BAF82454,AAR23925,AAH74911,AAH74912,AAH95528,AAA60601,AAA59936,AAA59933,AAA36641,AAA36644,AAB20168,P25103,Q4VBL8,Q53TQ2,Q53TR1 Hs.633301 NK1R|NKIR|SPR|TAC1R NK-1 receptor|NK-1R|neurokinin 1 receptor|substance-P receptor|tachykinin 1 receptor (substance P receptor, neurokinin 1 receptor)|tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) protein-coding 736836 TACR2 tachykinin receptor 2 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq] 1580863,2304260 8307161,10862829,2173708,19375820,19258923,19086053,18835556,18601911,18219665,18203813,17703412,17532769,17503489,17448763,17402972,16893949,16344560,15690122,15294896,14702039,12801882,12742655,12477932,12427486,11906947,11786503,10189055,7961636,7721803,1848773,1845990,1710456,1659296,1370160,1661704,1659297,15452121,16385451,19583679,20175803,20503287,16754659 2304260 6865 NM_001057,AB065731,AC016821,AF361880,CH471083,M60284,M75105,AK096906,AK291996,AK300649,AY322545,BC033742,BC096842,DA929480,M57414 NP_001048,BAC05952,AAK51938,EAW54324,EAW54325,AAA60347,AAB05897,BAF84685,BAG62337,AAP84358,AAH96842,AAC31760,P21452,Q96KE0 Hs.88372 NK2R|NKNAR|SKR|TAC2R NK-2 receptor|NK-2R|neurokinin 2 receptor|neurokinin A receptor|seven transmembrane helix receptor|substance K receptor|substance-K receptor protein-coding 735782 TACR3 tachykinin receptor 3 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq] 1580863,2305929,2305980,2305984,2305951,2304256 20332248,20395662,16754659,8990205,19258923,1374246,19079066,18835556,18422838,18287949,18203813,17703412,17448763,16709596,15489334,15130944,12477932,11786503,10866201,10189055,9272936,8925404,2452993,1315051,1312928,1312036,8702757,15452121,19755480,20194706,20332099,20503287,18577758 2305980,2305984,2305951,2304256 6870 NG_023344,NM_001059,AC004065,AC105460,CH471057,S86392,X65172,AY462099,BC095527,BC121806,BC122551,M89473 NP_001050,EAX06173,AAB21706,CAA46291,AAR23926,AAH95527,AAI21807,AAI22552,AAA36366,P29371,Q0IIN4,Q4VBL9 Hs.942 MGC148060|MGC148061|NK-3R|NK3R|NKR|TAC3RL NK-3 receptor|neurokinin B receptor|neurokinin beta receptor|neuromedin-K receptor|tachikin receptor 3 protein-coding 1342963 TACSTD2 tumor-associated calcium signal transducer 2 This intronless gene encodes a carcinoma-associated antigen defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane proteins. It transduces an intracellular calcium signal and acts as a cell surface receptor. Mutations of this gene result in gelatinous drop-like corneal dystrophy, an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. [provided by RefSeq] 1599194,1580863 7665234,10192395,19088204,18829570,18813308,18281513,18084248,17898270,17878632,17768381,17721311,17653040,17167402,17081983,16707602,16341674,16232198,15851553,15652848,15489335,15489334,15295654,15013888,12614764,12477932,12107443,12036680,11687514,11306819,11004271,10937555,10928776,10844062,9610724,9462726,8382772,2911574,15607035,20858281,20060709,20473768,20454699,19421758,19434540,19693293,20651236 1599194 4070 NM_002353,AL035411,CH471059,FJ970024,J04152,AI201870,AW052118,BC009409,BM765888,BT007255,CD722224,CR542260,CV027795,X13425,X77753,GU138371,NG_016237 NP_002344,CAB72325,EAX06630,ACR78188,AAA52505,AAH09409,AAP35919,CAG47056,CAA31781,CAA54799,P09758,ABM83527,ABM86761,ACZ01960 Hs.23582 EGP-1|EGP1|GA733|GA733-1|GA7331|GP50|M1S1|TROP2 40kD glycoprotein, identified by monoclonal antibody GA733|cell surface glycoprotein TROP2|cell surface glycoprotein Trop-2|epithelial glycoprotein-1|gastrointestinal tumor-associated antigen GA7331|membrane component chromosome 1 surface marker 1|membrane component, chromosome 1, surface marker 1|pancreatic carcinoma marker protein GA733-1|pancreatic carcinoma marker protein GA7331|tumor-associated calcium signal transducer 2 protein-coding 1606748 TADA1L transcriptional adaptor 1 (HFI1 homolog, yeast)-like TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM] 11564863,19064610,15146197,12477932,9726987,17643375,19536175,19615732 117143 AK290964,AK291922,AK309250,AK310391,BC015401,BC036497,CN399642,CR618254,CR619512,AL008639,AL009182,CH471067,NM_053053 BAF83653,BAF84611,AAH15401,Q96BN2,ABZ92130,NP_444281,CAI23577,CAI22772,EAW90778 Hs.435967 ADA1|HFI1|RP1-9E21.4|STAF42|TADA1L|hADA1 SPT3-associated factor 42 (STAF42)|transcriptional adapter 1|transcriptional adapter 1-like protein|transcriptional adaptor 1 (HFI1 homolog, yeast)|transcriptional adaptor 1 (HFI1 homolog, yeast)-like protein-coding 2979550 TADA2B transcriptional adaptor 2B TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM] 12477932,12972612,14702039,18936164,19615732,20379614,18838386 93624 AC097382,AK026299,AK093974,AK096655,AK126966,BC013164,BC047794,BC064337,BC078156,BC101334,BC101335,BC101336,BC101337,BX641147,BX648428,CH471131,NM_152293 AAH47794,AAI01335,AAI01336,AAI01337,AAI01338,BAG52792,BAG53348,BAG54411,CAE46064,EAW82372,NP_689506,Q86TJ2 Hs.518614 ADA2(beta)|ADA2B|MGC21874 ADA2-beta|ADA2-like protein beta|OTTHUMP00000217254|transcriptional adapter 2-beta|transcriptional adaptor 2 (ADA2 homolog, yeast)-beta protein-coding 1320582 TADA2L transcriptional adaptor 2 (ADA2 homolog, yeast)-like Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 20602615,12034840,16189514,9674425,8552087,18059173,16299514,15489334,14702039,12972612,12477932,9885574,9373149,9154805,9073520,8972232,9649342,9488450,12660246,8125298,11707411,17207965 6871 NM_001488,NM_133439,AC004099,AC068400,AC068447,CH471199,AF064094,AF069732,AK022767,AK096371,AK225918,AL526501,BC001172,BC011753,BM470857,CR615572,CD101741,NM_001166105 NP_001479,NP_597683,EAW57587,EAW57588,EAW57589,EAW57590,EAW57591,AAC26659,AAC39902,BAG51111,BAG53275,AAH01172,AAH11753,O75478,NP_001159577,ADQ32174 Hs.500066 ADA2|ADA2A|FLJ12705|KL04P|TADA2L|hADA2 ADA2-like protein|OTTHUMP00000164063|transcriptional adapter 2-alpha|transcriptional adapter 2-like|transcriptional adaptor 2 (ADA2 homolog, yeast)-like|transcriptional adaptor 2 (ADA2, yeast, homolog)-like|transcriptional adaptor 2 alpha|transcriptional adaptor 2-like protein-coding 1314884 TADA3L transcriptional adaptor 3 (NGG1 homolog, yeast)-like Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. In addition, it associates with the tumor suppressor protein p53 and is required for full activity of p53 and p53-mediated apoptosis. At least four alternatively spliced variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq] 1580863 15383276,16189514,9674425,11256614,19194825,18377363,18256148,18089809,18059173,17452980,17272277,16381901,16169070,15496419,15489336,15489334,14702039,12477932,12235159,12138191,12034840,11707411,11564863,11406595,11230166,11076863,10373431,9674419,12660246,19913121,20628086,20413580,17643375,19615732,18838386 10474 NM_133480,AC022382,CH471055,AF069733,AK000228,AK024982,AK292264,AL117487,BC001480,BC009240,BC013433,CR533543,CR594013,CR597436,CR602056,CR607832,CR618353,NM_006354,CR620907,CR625213 NP_006345,NP_597814,EAW63994,EAW63995,EAW63996,EAW63997,AAC39903,BAF84953,CAB55957,AAH09240,AAH13433,CAG38574,O75528,CAL37474,CAL37705,CAL37958,AAI41662,ABZ92464 Hs.386390 ADA3|FLJ20221|FLJ21329|NGG1|TADA3L|hADA3 ADA3 homolog|ADA3-like protein|STAF54|transcriptional adapter 3|transcriptional adapter 3-like|transcriptional adaptor 3 (NGG1 homolog, yeast)-like protein-coding 1349671 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. This gene is part of a complex transcriptional unit (TAF1/DYT3), wherein some products share exons with TAF1 as well as additional exons downstream.[provided by RefSeq] 1580863 19240132,20936779,7809597,7724559,7724524,7680771,7668293,7667268,7590250,3556424,3169001,2038334,1876184,1518853,9153318,10359315,7926747,12665565,15710329,15601843,20181722,20587494,9660973,17996705,8980232,15053879,8625415,9405375,18029348,1939271,2449431,8946909,14580349,18580066,18548200,17952504,17505112,17327284,17273961,17237821,16713569,16705091,16366515,16155788,16113828,15978108,15939070,15870300,15306156,15087451,14871254,14719174,14717966,14651335,12958613,12928496,12876631,12842904,12569092,12498690,12217962,12093919,12040021,11909971,11871391,11748221,11686293,11592977,11564872,11564863,11316804,11278496,11257518,11126356,11005381,10827952,10759893,10737800,10704353,10469661,10428810,9926939,9880542,9858607,9765293,9751712,9603936,9584164,9488465,9482861,9388200,9242374,9054383,9045704,8849451,8764062,8764009,8700832,8680883,8663456,8650542,8577725,8450888,8224850,8163188,8121496,8065335,7958900,7933101,7923369,7836461,7835343,7824954,7729427,15960975,16919237,17643375,18305892,20937824 6872 AJ549245,AJ549246,AJ549247,AJ549248,AJ549249,AJ549250,AJ555148,AJ555149,AM711892,AM711893,AM711894,AM711895,NM_004606,NM_138923,NG_012771,AL590762,AL590763,AY623109,CH471132,AB209316,AB300418,AK310201,AW937788,BQ027170,D90359,M73444,R66536,X07024 CAD70488,CAD70489,CAD70490,CAD70491,CAD70492,CAD70493,CAD87527,CAD87528,CAM98555,CAM98556,CAM98557,CAM98558,NP_004597,NP_620278,AAT38105,EAX05291,EAX05292,EAX05293,EAX05294,EAX05295,BAD92553,BAG15901,BAA14374,CAA30073,P21675,AAI72427,Q70T04,Q70T05 Hs.722619,Hs.158560 BA2R|CCG1|CCGS|DYT3|DYT3/TAF1|KAT4|N-TAF1|NSCL2|OF|P250|TAF2A|TAFII250|XDP TAF(II)250|TAFII-250|TBP-associated factor 250 kDa|cell cycle gene 1 protein|cell cycle, G1 phase defect|complementation of cell cycle block, G1-to-S|transcription factor TFIID p250 polypeptide|transcription initiation factor TFIID 250 kDa subunit|transcription initiation factor TFIID subunit 1 protein-coding 1314218 TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq] 1580863 15489334,14580349,12762840,12477932,11438666,11406595,10469660,9885574,9154123,9054383,8849451,8764062,8764009,8680883,20457598,15099517,7923369,7729427,9674425,11564863,9603525,9212049,9405375,18206972,8946909,15870280,1939271,2449431,10373431,17599049,8530084,8121496,7933101,7836461,7835343,9153318,7680771,16169070,12660246,14499622,16415881,8598193,15115762,17643375,18029348,20106982,19240132 6881 NM_006284,AC091564,AF498312,CH471064,U25816,AL833496,BC012088,CR541943,CR597361,CR598728,U13991 NP_006275,AAM14627,EAW68687,AAB61242,AAH12088,CAG46741,AAA62230,Q12962 Hs.5158 TAF2A|TAF2H|TAFII30 STAF28|TAF(II)30|TAFII-30|TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD|transcription initiation factor TFIID 30 kD subunit|transcription initiation factor TFIID 30 kDa subunit|transcription initiation factor TFIID subunit 10 protein-coding 1313766 TAF11 TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. [provided by RefSeq] 1580863 7729427,10744685,8670810,9405375,9108034,8946909,1939271,2449431,15489334,14580349,14574404,12477932,9695952,9632676,9584164,9311784,9054383,9045704,8849451,8820923,8764062,8764009,8680883,8121496,7933101,7836461,7835343,9153318,9488465,9159119,19240132 6882 CR621043,D63705,X83928,AL033520,AY217767,AF118094,AK302226,AK313475,BC021972,BT019404,BT019405,BX538195,BX647568,CR542068,CR601696,CR601826,NM_005643,CR603953 BAA23620,CAA58780,Q15544,ABM84165,ABM87568,NP_005634,CAB96725,AAO25652,AAF22038,BAG63580,BAG36260,AAH21972,AAV38211,AAV38212,CAG46865 Hs.112444 MGC:15243|PRO2134|TAF2I|TAFII28 TAF(II)28|TAFII-28|TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD|TFIID subunit p30-beta|transcription initiation factor TFIID 28 kD subunit|transcription initiation factor TFIID 28 kDa subunit|transcription initiation factor TFIID subunit 11 protein-coding 1348553 TAF12 TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 18029348,1939271,2449431,14580349,17268553,16710414,15735663,15601843,15489334,12601814,12477932,12237304,11564863,11406595,10594036,9885574,9674425,9311784,9054383,9045704,8889548,8849451,8764062,8764009,8680883,8663456,8647459,8598932,8121496,7933101,19240132,7729427,7667268,11438666,9603525,9405375,7835343,11564872,12660246,8946909,7836461,16494529,19635797,9133630 6883 NM_001135218,NM_005644,AL513497,AL840644,AY206865,CH471059,AK310097,BC011986,BM676557,BT007031,BX095156,CR590266,CX865268,D50544,U57693,X84002 NP_001128690,NP_005635,CAI22291,AAO13491,EAX07680,EAX07681,EAX07682,EAX07683,AAH11986,AAP35678,BAA09112,AAC50600,AAC50601,CAA58826,Q16514,ABM92197,ABM84665 Hs.530251 TAF2J|TAFII20 TAFII-20/TAFII-15|TAFII20/TAFII15|TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD|transcription initiation factor TFIID 20/15 kDa subunits|transcription initiation factor TFIID subunit 12 protein-coding 1313406 TAF13 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq] 1580863 7729427,9695952,9405375,8946909,1939271,2449431,16710414,15489334,12477932,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461,7835343,9488465,12878157,11438666,17643375,9311784,19240132 6884 NM_005645,BX679664,CH471122,AK312158,AU280379,AV713996,BC121180,BC121181,BG675152,X84003 NP_005636,CAH71330,EAW56354,EAW56355,BAG35092,AAI21181,AAI21182,CAA58827,Q0VA92,Q15543 Hs.632426 MGC22425|TAF2K|TAFII18 TAF(II)18|TAFII-18|TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD|transcription initiation factor TFIID 18 kD subunit|transcription initiation factor TFIID 18 kDa subunit|transcription initiation factor TFIID subunit 13 protein-coding 1343397 TAF13P TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, pseudogene 246112 NG_001573,AL049697 TAF13P pseudo 3050998 TAF13P2 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa pseudogene 2 100462886 AC005041,NG_021566 pseudo 1320016 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a subunit of TFIID present in a subset of TFIID complexes. Translocations involving chromosome 17 and chromosome 9, where the gene for the nuclear receptor CSMF is located, result in a gene fusion product that is an RNA binding protein associated with a subset of extraskeletal myxoid chondrosarcomas. Two transcripts encoding different isoforms have been identified. [provided by RefSeq] 1580863,1599281 19124016,18620564,18330902,15782174,15635413,15324660,15094065,15066997,12477932,12359745,9795213,9660765,9488465,9054383,8954779,8890175,8849451,8764062,8764009,8680883,8663456,8121496,7933101,7836461,7835343,12183049,19282884,19426707,20048082,20379614 1599281 8148 NG_023279,NM_003487,NM_139215,AB010067,AC015849,AY197697,CH471147,AK304520,AK307637,AK313223,AK314194,BC030591,BC039129,BC046099,BC048985,U51334,X98893 NP_003478,NP_631961,BAA33811,BAA33812,AAO13485,EAW80124,EAW80125,EAW80126,EAW80127,BAG65324,BAG36034,BAG36873,AAH46099,AAC50932,CAA67398,Q86X94,Q92804 Hs.402752 Npl3|RBP56|TAF2N|TAFII68|hTAFII68 68 kDa TATA-binding protein-associated factor|RBP56/CSMF fusion|RNA-binding protein 56|TAF(II)68|TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)|TATA box-binding protein-associated factor 2N (RNA-binding protein 56)|TATA-binding protein-associated factor 2N|TBP-associated factor 15 protein-coding 1313879 TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the smallest SL1-specific TAF. Two transcripts encoding different isoforms have been identified. [provided by RefSeq] 7801123,11250901,12393749,19246067,16710414,15489334,15226435,15113842,14702039,12477932,11250903,10913176,10894955,8013460,15723054,11163245,8889548,15315821,17251981,19615732 9015 NM_139352,NM_005681,AL592148,CH471100,AK001054,AK290970,AK299536,AK307882,AK315740,BC013808,CR612936,L39060,CN479053,NM_001201536 NP_647603,NP_005672,CAI40466,CAI40467,CAI40468,EAW93271,EAW93272,EAW93273,BAA91482,BAF83659,BAG61483,BAG38095,AAH13808,AAA62862,Q15573,ABM82007,ABM85189,NP_001188465 Hs.153088 MGC:17061|RAFI48|SL1|TAFI48 OTTHUMP00000035654|OTTHUMP00000035655|RNA polymerase I-specific TBP-associated factor 48 kDa|SL1, 48kD subunit|TATA box-binding protein-associated factor 1A|TATA box-binding protein-associated factor RNA polymerase I subunit A|TBP-associated factor 1A|transcription factor SL1|transcription initiation factor SL1/TIF-IB subunit A protein-coding 1314966 TAF1B TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. [provided by RefSeq] 17179179,7801123,9582279,11250901,12393749,12646563,17456004,16344560,15815621,15723054,15489334,12477932,12140758,11250903,10913176,10894955,11073993,19503063,19615732,20379614 9014 L39061,NM_005680,AC010969,CH471053,AA746267,AK026521,AK295402,AK308070,AK309751,AK315098,BC018137,CA423871,CR606132,CR616493,CR622846,DA910748 AAA62863,Q53T94,ABM85585,NP_005671,AAX93272,EAX00974,EAX00975,EAX00976,BAG58354,AAH18137 Hs.584833 MGC:9349|RAF1B|RAFI63|SL1|TAFI63 RNA polymerase I-specific TBP-associated factor 63 kDa|SL1, 63kD subunit|TATA box-binding protein-associated factor 1B|TATA box-binding protein-associated factor RNA polymerase I subunit B|TBP-associated factor 1B|transcription initiation factor SL1/TIF-IB subunit B protein-coding 1313816 TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Two transcripts encoding different isoforms have been identified. [provided by RefSeq] 1580863 7801123,9582279,11250901,12393749,16344560,16055704,15970593,15723054,15489334,15226435,14702039,12477932,11250903,10913176,10894955,11698641,20800603,12646563,20663923,19615732 9013 NM_005679,NM_139353,AC009123,AY158985,CH471114,AB209594,AK097031,AK299060,AK299347,AK304261,AK304739,AK315982,AU130229,BC028131,CR605319,L39059,HI574118,HI574120 NP_005670,NP_647610,AAN38818,EAW95495,EAW95496,EAW95497,EAW95498,EAW95499,BAD92831,BAG53410,BAH12941,BAH13010,BAH14144,BAH14248,BAH14353,AAH28131,AAA62861,Q15572,CBX47548,CBX47549 Hs.153022 MGC:39976|SL1|TAFI110|TAFI95 RNA polymerase I-specific TBP-associated factor 110 kDa|SL1, 110kD subunit|TATA box-binding protein-associated factor 1C|TATA box-binding protein-associated factor RNA polymerase I subunit C|TBP-associated factor 1C|transcription factor SL1|transcription initiation factor SL1/TIF-IB subunit C protein-coding 1601854 TAF1D TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM] 15520167,19615732,17318177,15489334,14702039,12477932,16169070,17207965 79101 NM_024116,AP001273,CH471065,AF086435,AF275800,AK027016,AK128061,BC001972,BQ774057,CR457369,CR609260,DW450227 NP_077021,EAW66912,EAW66913,EAW66914,AAG23815,BAB15628,AAH01972,CAG33650,Q9H5J8,Q9HB73,ADQ31841 Hs.355750 JOSD3|MGC5306|RAFI41|TAF(I)41 Josephin domain containing 3|RNA polymerase I-specific TBP-associated factor 41 kDa|TAFI41|TATA box-binding protein-associated factor 1D|TATA box-binding protein-associated factor RNA polymerase I subunit D|TBP-associated factor 1D|transcription initiation factor SL1/TIF-IB subunit D protein-coding 1354016 TAF1L TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq] 1580863 12217962,15489334,12477932,17643375 138474 NM_153809,AL589642,AF390562,BC116181,BC116182 NP_722516,AAN40840,Q8IZX4,AAI72227 Hs.591086 MGC134910|TAF2A2 TAF(II)210|TBP-associated factor 1-like|TBP-associated factor 210 kDa|TBP-associated factor RNA polymerase 1-like|transcription initiation factor TFIID 210 kDa subunit|transcription initiation factor TFIID subunit 1-like protein-coding 1353856 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq] 19240132,19336002,10409744,9418870,9774672,10373431,17081983,16083285,15489334,14702039,14580349,12601814,12477932,11564863,11406595,11337467,10469661,9726987,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461,7835343,7680771,14729963,7801123,17643375 6873 NM_003184,AC021945,AC107960,CH471060,AF026445,AF040701,AF057694,AK001618,AK001909,AK316592,AL137601,AU098502,BC008473,BC018010,BC035673,BC047732,BC064830 NP_003175,EAW91991,EAW91992,EAW91993,AAC02966,AAC68502,AAC13540,BAG50950,BAG50991,BAG38179,CAB70836,AAH35673,AAH47732,AAH64830,Q6P1X5,Q9NT08,AAI46380 Hs.122752 CIF150|TAF2B|TAFII150 150 kDa cofactor of initiator function|RNA polymerase II TBP-associated factor subunit B|TAF(II)150|TAFII-150|TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD|TBP-associated factor 150 kDa|cofactor of initiator function, 150kD subunit|transcription initiation factor TFIID 150 kDa subunit|transcription initiation factor TFIID subunit 2 protein-coding 1323524 TAF3 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM] 11438666,15870280,19240061,19023099,18549481,17975119,17081983,15489334,15302935,15164054,14702039,12477932,17643375,19240132,20808825 83860 NM_031923,AL159172,AL353754,AL390294,AJ292190,AK123254,AK307521,AK307657,AL117661,BC017320,BC024661,BC028077,BC045106,BC062352,BC073884,BC105593 CAB56032,NP_114129,CAI15661,CAH73451,CAH73142,CAC34475,AAH17320,AAH45106,AAH62352,AAH73884,AAI05594,Q05DA0,Q0VGM1,Q5VWG9,AAI72366 Hs.527688,Hs.709995 MGC25063|TAF140|TAFII-140|TAFII140 140 kDa TATA box-binding protein-associated factor|RNA polymerase II transcription factor TAFII140|TAF(II)140|TBP-associated factor 3|transcription initiation factor TFIID 140 kDa subunit|transcription initiation factor TFIID subunit 3 protein-coding 1345040 TAF4 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq] 1580863 15641800,14702039,12810884,12601814,12237304,11988536,11959914,11780052,11687654,11564872,11564863,11406595,10594036,10409662,9742090,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461,7835343,12665565,9153318,8942982,7729427,9418870,9192867,9603525,18029348,14580349,10373431,18206971,15735663,12771217,15601843,15960975,17643375,1939271,19635797,19851296,20198315,20379614,2449431,8946909,9405375,19240132 6874 AL109911,NM_003185,AL137077,AY623115,CH471077,AK123937,U75308,Y11354 NP_003176,CAI19182,CAI19183,CAI11045,CAI11046,AAT38111,EAW75406,EAW75407,AAC50901,CAA72189,O00268,Q5TBP5,AAI67776 Hs.18857 FLJ41943|TAF2C|TAF2C1|TAF4A|TAFII130|TAFII135 OTTHUMP00000031447|RNA polymerase II TBP-associated factor subunit C|TAF(II)130|TAF(II)135|TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135 kD|TAFII-130|TAFII-135|TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD|TBP-associated factor 4|transcription initiation factor TFIID 130 kDa subunit|transcription initiation factor TFIID 135 kD subunit|transcription initiation factor TFIID 135 kDa subunit|transcription initiation factor TFIID subunit 4 protein-coding 1319196 TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa TATA-binding protein associated factors (TAFs) participate, with TATA binding protein (TBP; MIM 600075), in the formation of the TFIID protein complex (see MIM 313650), which is involved in the initiation of gene transcription by RNA polymerase II (see MIM 180660).[supplied by OMIM] 1580863 18029348,20353996,10849440,9405375,8946909,1939271,2449431,19020761,18206971,16088961,15601843,12477932,11567023,10828057,8858156,9724652,19508998,19635797 6875 NM_005640,AC016839,AC022069,AC121320,CH471088,AB234096,AK302593,AY888048,AY888049,BC016360,BC032791,Y09321 NP_005631,EAX01218,BAF51561,BAG63845,AAX14897,AAX14898,CAA70499,Q92750 Hs.369519 TAF2C2|TAFII105 TAF(II)105|TAFII-105|TATA box binding protein (TBP)-associated factor 4B|TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD|transcription initiation factor TFIID 105 kD subunit|transcription initiation factor TFIID 105 kDa subunit|transcription initiation factor TFIID subunit 4B protein-coding 1322729 TAF5 TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. [provided by RefSeq] 1580863 19240132,10373431,17996705,17227857,9603525,9045704,9405375,8946909,18029348,15637059,1939271,2449431,15489334,14580349,12601814,12477932,11564863,11406595,9488465,9373149,9311784,9054383,8942982,8884287,8849451,8764062,8764009,8758937,8680883,8125298,8121496,7933101,7836461,7835343,9153318,7680771,10523658,12660246,15899866,17643375 6877 NM_006951,AL591408,CH471066,AK223615,AK291229,AW136916,BC052268,BC136340,BC136348,BG290312,CR610839,U75309,U80191,X95525 NP_008882,CAI16747,EAW49645,EAW49646,BAD97335,BAF83918,AAH52268,AAI36341,AAI36349,AAC50902,AAC51215,CAA64777,Q15542 Hs.96103 TAF2D|TAFII100 TAF(II)100|TAFII-100|TATA box binding protein (TBP)-associated factor 2D|TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD|transcription initiation factor TFIID 100 kD subunit|transcription initiation factor TFIID 100 kDa subunit|transcription initiation factor TFIID subunit 5 protein-coding 1320985 TAF5L TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 1580863 17207965,20211142,12477932,11564863,11406595,11124703,10373431,9674419,12660246,15489334,12601814,9674425,17476304,16829519,16672693,16206511,16126174,17643375,18206972,19615732 27097 NM_014409,NM_001025247,AL121990,CH471098,AF069736,AI251746,AJ009770,BC001569,BC041094,BE646579 ADQ33004,NP_055224,NP_001020418,CAI22014,CAI22015,CAI22016,EAW69902,EAW69903,AAC39906,CAA08816,AAH41094,O75529 Hs.270621 PAF65B OTTHUMP00000037470|PAF65-beta|PCAF associated factor 65 beta|PCAF-associated factor 65 beta|TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L protein-coding 1323155 TAF6 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Four isoforms have been identified but complete transcripts have been determined for only three isoforms. One of the isoforms has been shown to preclude binding of one of the other TFIID subunits, thereby reducing transcription and initiating signals that trigger apoptosis. [provided by RefSeq] 1580863 11406595,9584164,9177216,9054383,8849451,8764062,8764009,8680883,8262073,8121496,7933101,7836461,7835343,7644498,7597030,826207,12665565,9153318,7680771,10523658,7926747,15641800,7667268,9045704,15328371,15601843,15899866,9603525,9405375,8946909,18029348,1939271,2449431,14580349,18628956,16964243,16344560,15489334,15302935,14702039,12829691,12690205,12601814,12477932,11583621,11564863,15960975,17643375,20096117,20457814,9133630,19240132 6878 NM_139315,NM_005641,AC073842,AY149894,CH236956,CH471091,AK097781,AK300005,AK314428,AK315077,AU143362,BC018115,CR624352,CR627390,L25444,U31659,BC127819,CX782724,DA150478,DA707589,DA776355,DC339989,NM_001190415,NR_033792 NP_647476,NP_005632,AAN10295,EAL23851,EAL23852,EAL23853,EAW76588,EAW76589,EAW76590,EAW76591,EAW76592,BAG53526,BAG61823,AAH18115,CAH10485,AAA63643,AAA84390,P49848,ABM82538,ABM85730,NP_001177344 Hs.489309 DKFZp781E21155|MGC:8964|TAF(II)70|TAF(II)80|TAF2E|TAFII-70|TAFII-80|TAFII70|TAFII80|TAFII85 OTTHUMP00000214590|RNA polymerase II TBP-associated factor subunit E|TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD|transcription initiation factor TFIID 70 kDa subunit|transcription initiation factor TFIID subunit 6 protein-coding 1320845 TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq] 1580863 9674425,18714023,16713569,16189514,15964547,15489334,14702039,12601814,12477932,11564863,11406595,9674419,12660246,17643375,19615732 10629 NM_006473,AP001160,CH471076,AF069735,AK289499,AK301145,AK310054,AK314330,BC008785 NP_006464,EAW74093,EAW74094,EAW74095,EAW74096,EAW74097,AAC39905,BAF82188,BAG62736,BAG36977,Q9Y6J9 Hs.714400 FLJ11136|MGC4288|PAF65A PAF65-alpha|PCAF-associated factor 65 alpha|PCAF-associated factor 65-alpha|TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L|p300/CBP-associated factor (PCAF)-associated factor 65 protein-coding 1320545 TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq] 1580863 19240132,7824954,11592977,18391197,10409738,9603525,12676957,16407123,18029348,17320040,17081983,15489334,15078871,14580349,12477932,11564863,11340078,11230163,11005381,10896937,9632676,9311784,9054383,8849451,8764062,8764009,8702684,8680883,8121496,8012384,7933101,7836461,7835343,12665565,9153318,9045704,15893730,9488465,8794892,15960975,16415881,17643375,20211142,20937824 6879 NM_005642,NG_000012,AC005618,AF349038,CH471062,Z65839,Z65840,AK314837,BC013397,BC022798,BC032737,U18062,X97999 NP_005633,AAK30585,EAW61966,BAG37356,AAH22798,AAH32737,AAB60347,CAA66636,Q15545,Q8TBD8,ABM81815,ABM84970 Hs.438838 TAF2F|TAFII55 RNA polymerase II TBP-associated factor subunit F|TAF(II)55|TAFII-55|TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD|TBP-associated factor F|transcription factor IID subunit TAFII55|transcription initiation factor TFIID 55 kDa subunit|transcription initiation factor TFIID subunit 7|transcription initiation factor TFIID, 55 kDa subunit protein-coding 1350801 TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. [provided by RefSeq] 12477932,18029348,17714218,16597641,12665565,11279525,16344560,17643375 54457 NM_024885,AL109801,CH471115,Z68331,AF285595,AK026810,AK308261,BC043391,DB042169,DB455298,NG_016220,NM_001168474 NP_079161,CAI43034,CAI43035,CAI43036,EAX02847,EAX02848,EAX02849,EAX02850,EAX02851,EAX02852,CAI42014,CAI42015,CAI42017,AAK31974,BAB15560,AAH43391,Q5H9L4,NP_001161946 Hs.223806 CT40|FLJ23157|TAF2Q|dJ738A13.1 OTTHUMP00000023673|OTTHUMP00000023674|RNA polymerase II TBP-associated factor subunit Q|TATA box-binding protein-associated factor 50 kDa|TBP-associated factor, RNA polymerase II, Q|cancer/testis antigen 40|transcription initiation factor TFIID 50 kDa subunit|transcription initiation factor TFIID subunit 7-like protein-coding 1318181 TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 18029348,14580349,15870280,14702039,12477932,11963920,11564872,9569032,7933101,7835343,7836461,8849451,8764062,9054383,8764009,8680883,8121496,19204726 129685 NM_138572,AL512274,AL513008,CH471081,AF086309,AF465841,AK057383,AL833401,BC018796,BC033728,BC119678,BC119679,BI828714,AK303097 NP_612639,CAI16781,CAI16782,CAI15202,CAI15203,EAX04078,EAX04079,EAX04080,AAP47094,BAB71460,AAI19679,AAI19680,Q7Z7C8,BAG64207 Hs.520122 43|FLJ32821|II|TAF|TAFII-43|TAFII43|TBN OTTHUMP00000216829|OTTHUMP00000216832|TAF(II)43|TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa|TBP-associated factor 43 kDa|TBP-associated factor 8|TBP-associated factor TAFII43|TBP-associated factor, RNA polymerase II, 43 kD|hTAFII43|protein taube nuss|taube nuss homolog|transcription initiation factor TFIID 43 kDa subunit|transcription initiation factor TFIID subunit 8 protein-coding 1314621 TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 9674425,11564863,7667268,9045704,15601843,15899866,9405375,8946909,1939271,2449431,19251649,17967894,17081983,16713569,16189514,16169070,16079131,15630091,15489334,15489227,15213396,14580349,12837753,12601814,12477932,11406595,11278372,11005381,10931946,10821850,10810093,10191103,9885574,9054383,8849451,8764062,8764009,8680883,8401585,19240132,7933101,7836461,7835343,7809597,7761466,7597030,9153318,12660246,12101418,8121496,10449590,15960975,17636026,17643375,19615732,19643037,9171108 6880 NM_016283,NM_001015892,NM_003187,AC145132,AC145145,AY189986,CH471137,AF110777,AF151895,AI879232,AJ878880,AJ878881,BC003400,BC007349,BC007426,NM_001015891,BC033320,BG490028,BG720149,BT019652,BX117839,CR606803,CR610818,U21858,U25112,U30504 NP_001015891,NP_057367,NP_001015892,NP_003178,AAN84793,EAW51290,EAW51291,EAW51292,EAW51293,EAW51294,EAW51295,EAW51296,EAW51297,AAF14860,AAD34132,CAI48030,CAI48031,AAH03400,AAH07349,AAH07426,AAH33320,AAV38458,AAC50153,AAA91318,AAA84389,Q16594,Q9Y3D8,ACE87407,ACE86721 Hs.653163 AD-004|AK6|CGI-137|CINAP|CIP|MGC1603|MGC3647|MGC5067|MGC:1603|MGC:3647|MGC:5067|TAF2G|TAFII31|TAFII32|TAFIID32|hCINAP ATP-AMP transphosphorylase 6|OTTHUMP00000222137|OTTHUMP00000222138|OTTHUMP00000222139|OTTHUMP00000222140|OTTHUMP00000222141|OTTHUMP00000222142|OTTHUMP00000222143|OTTHUMP00000223056|RNA polymerase II TBP-associated factor subunit G|STAF31/32|TAFII-31|TAFII-32|adenylate kinase 6|adenylate kinase isoenzyme 6|adrenal gland protein AD-004|coilin interacting protein|coilin-interacting nuclear ATPase protein|transcription initiation factor TFIID 31 kD subunit|transcription initiation factor TFIID 31 kDa subunit|transcription initiation factor TFIID 32 kDa subunit|transcription initiation factor TFIID subunit 9 protein-coding 1351331 TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. [provided by RefSeq] 1580863 15899866,12837753,16189514,15772651,15489334,12477932,10721692,7761466,17643375 51616 NM_015975,NG_012570,AL049589,BX276116,CH471104,AF220509,AK074449,AK312579,BC009566,BC010350,BC071649,BC146952,BC146960,BI544376,CR608622,CR624765,CR625261 NP_057059,CAI42952,EAW98600,EAW98601,AAG09711,BAG35473,AAH09566,AAH10350,AAH71649,AAI46953,AAI46961,Q9HBM6,ABM82854,ABM86041 Hs.592248 DN-7|DN7|TAF9L|TAFII31L|TFIID-31 TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa|TBP-associated factor 9L|neuronal cell death-related protein 7|taf9-like rna polymerase ii, tata box binding protein (tbp)-associated factor, 31kda|transcription associated factor TAFII31L|transcription initiation factor IID, 31kD subunit|transcription initiation factor TFIID subunit 9-like|transcription initiation factor TFIID subunit 9B|transcription-associated factor TAFII31L protein-coding 4140089 TAF9BP1 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 1 246135 AC092798,NG_001574 pseudo 4140113 TAF9BP2 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 2 100130319 AADB02013286,ABBA01062972,AL137025 pseudo 1603488 TAF9P1 TAF9 pseudogene 1 12815422,9847074 360002 AC015978,AC068704,NG_004636,AC007742 pseudo 1603487 TAF9P2 TAF9 pseudogene 2 12815422,9847074 360003 NG_004636,AC007241 pseudo 4109368 TAF9P3 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 3 10191103 163088 AC008507,NG_001012 TAF2GL pseudo 1318496 TAGAP T-cell activation RhoGTPase activating protein This gene encodes a protein that may function as a Rho GTPase-activating protein. Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 19240061,19073967,18805825,18356936,18311140,16375659,15489334,15177553,14702039,14574404,12477932,20647273,21102463,19693089,19898481,20190752,17207965,20854658,20973039 117289 NM_152133,NM_054114,NM_138810,NG_011524,AL035530,CH471051,AF385429,AF385430,AK025272,AK057193,AK097090,AK298686,AL832662,BC015859,BC111731,HI574104,HI574106,HI574108 NP_687034,NP_473455,NP_620165,CAI19231,CAI19232,CAI19233,EAW47637,EAW47638,EAW47639,AAM43830,AAM43831,BAB71378,BAC04947,BAG60848,AAH15859,AAI11732,Q8N103,Q96DM2,ADQ31625,CBX47541,CBX47542,CBX47543 Hs.529984 FKSG15|FLJ32631|FLJ39771|IDDM21|MGC133247|MGC27381|TAGAP1 T-cell activation GTPase-activating protein|T-cell activation Rho GTPase-activating protein protein-coding 11324 TAGLN transgelin The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1578340,1580863 20336793,20707403,20705054,17353931,9615232,19329940,19011151,18446369,18291675,18245174,17629319,17305610,17082327,15489334,12521938,12477932,12200029,11773051,11053353,9384215,9373149,9276683,9242426,8125298,8117285,7788527,1872880,1520290,20012321,19913121,20628086,18378184,19188659,19724680,19796641,19848416,20066125,20098441,20379614,20540360 1578340 6876 NM_001001522,NM_003186,AC022760,AF013711,AP000761,AP000892,AP005018,CH471065,D84342,EF445005,EF445034,U73638,AB209555,AI817828,AK223002,AK314043,BC004927,BC010946,BC024296,BC041624,BC065829,BC092415,BC093050,BI830888,BT019648,BT019649,BX640723,CR536484,CR541681,CR592460,CR594443,CR594882,CR597887,CR600882,CR605812,CR606909,CR612359,CR615909,CR626280,CR749612,D17409,M83106,M95787 NP_001001522,NP_003177,AAC21582,EAW67298,EAW67299,EAW67300,EAW67301,EAW67302,BAA21839,ACA06038,ACA06079,ACA06080,BAD92792,BAD96722,BAG36752,AAH04927,AAH10946,AAH65829,AAH92415,AAH93050,AAV38454,AAV38455,CAG38723,CAG46482,CAH18406,BAA21811,AAA58375,AAA58351,Q01995,Q53GC9,Q59FA5,Q5U0D2,Q6FI52,Q96FG7,ACE87490,ACE86803 Hs.410977 DKFZp686B01212|DKFZp686P11128|SM22|SMCC|TAGLN1|WS3-10 22 kDa actin-binding protein|SM22-alpha|smooth muscle protein 22-alpha|transgelin|transgelin variant 2 protein-coding 1321972 TAGLN2 transgelin 2 The protein encoded by this gene is a homolog of the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The function of this protein has not yet been determined. [provided by RefSeq] 1580863 17353931,16710414,16021519,15489334,12665801,12477932,10942595,9693045,9110174,8619474,7788527,20736409,19848416,18029348,19615732 8407 AY007127,BC002616,BC009357,CR542126,CR542136,CR590131,CR590142,CR591926,CR592747,CR592851,CR594260,CR599010,CR601283,CR602105,CR603278,CR604118,CR604476,CR606060,CR607405,CR607855,AK291562,CR608199,CR608276,NM_003564,AL513485,CH471121,CR608575,CR609407,CR609748,CR609777,CR610006,CR611080,CR611788,CR612553,CR613098,CR613520,CR614100,CR616442,CR617101,CR618095,CR618563,CR618634,CR620277,CR620855,CR621323,CR621369,CR621718,CR621820,CR622397,CR623124,CR623657,CR624026,CR624984,CR625445,CR626596,D21261,GU727636,AK298654 BAF84251,AAG01993,AAH02616,AAH09357,CAG46923,CAG46933,NP_003555,CAI14602,CAI14603,CAI14604,EAW52759,EAW52760,EAW52761,EAW52762,EAW52763,BAA04802,P37802,ABM82841,ABM86026,ADU87638,BAH12838 Hs.517168 HA1756|KIAA0120 OTTHUMP00000024408|OTTHUMP00000024410|SM22-alpha homolog|transgelin-2 protein-coding 1346933 TAGLN2P1 transgelin 2 pseudogene 1 493620 1344353 TAGLN2P2 transgelin 2 pseudogene 2 493621 1348892 TAGLN3 transgelin 3 68819,634083,1580863 8015377,15781144,15489334,14506410,12477932,12107411,11238712,10931946,17207965 68819,634083 29114 NM_001008272,NM_001008273,AC060225,CH471052,AF087855,AF112201,AF303058,AK315289,BC015329,BG912462,BI752099,BI822856,BI919263,BM894229,BQ640029,BT007408,CK003985,NM_013259,CR591700,CR600116 NP_037391,NP_001008273,NP_001008274,EAW79685,EAW79686,EAW79687,AAP97165,AAF17189,AAL09330,AAH15329,AAP36076,Q7Z517,Q9UI15,ADQ32423 Hs.169330 NP22|NP25 OTTHUMP00000214655|OTTHUMP00000214660|neuronal protein 22|neuronal protein NP25|transgelin-3 protein-coding 1315543 TAL1 T-cell acute lymphocytic leukemia 1 1578342,1580863 16007160,2303035,9824680,17474147,19497860,19406989,18550854,18495761,18439091,18436863,18187418,17962192,17910069,17878155,17507663,17503961,17460775,16849639,16778171,16763211,16710414,16621969,16298389,15961517,15923636,15677454,15383276,15086455,14970264,14729962,14715640,14651981,12867998,12239153,12091340,12010791,11904294,11118214,10688671,10490830,9819382,9507011,9171354,9111058,8437851,8423803,8414504,8159721,8084606,8078932,7957052,7833471,7568177,2740341,2602361,2247063,2230650,1964581,1886719,1453013,1450410,1396592,1311214,16407974,9242638,8576241,19913121,20628086,10383400,12477932,19527627,19587703,19785037,19865112,20028976,9209374,20855495,20140202 1578342 6886 NM_003189,AJ131016,AL135960,CH471059,M63589,X58621,X58622,X58623,BC144215,CR624822,M29038,M61108,N71056,S53245,X51990 NP_003180,CAB72254,CAB72103,EAX06875,EAX06876,EAX06877,AAA36599,CAA41476,CAA41477,CAA41478,AAA36598,AAA36600,AAB19683,CAA36246,P17542,Q16509,Q9NY94,Q9UE36,AAI60033 Hs.705618 SCL|TCL5|bHLHa17|tal-1 OTTHUMP00000009563|T-cell acute lymphocytic leukemia protein 1|T-cell leukemia/lymphoma protein 5|class A basic helix-loop-helix protein 17|stem cell protein|tal-1 product protein-coding 1351744 TAL2 T-cell acute lymphocytic leukemia 2 This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq] 1599285,1580863 20211142,1763056,15489334,15164053,12567187,12477932,8152805,7957052,1450410,9242638,19448620,20125193 1599285 6887 NM_005421,AL158070,CH471105,M81078,S69377,AA767775,BC069422,BC126373,BC126375 ADR82810,NP_005412,CAC22163,EAW59002,AAA60613,AAC60629,AAH69422,AAI26374,AAI26376,Q16559 Hs.247978 T-cell acute lymphocytic leukemia protein 2|TAL-2|class A basic helix-loop-helix protein 19 protein-coding 733188 TALDO1 transaldolase 1 Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq] 737673,1641814,1300048,1641803,1599574,1599293,1580863 15231747,11283793,9524206,16130169,18805652,18687684,18498245,18331807,17603756,17503352,17095351,17081983,16092052,15489334,15383276,14702349,12477932,10869557,10702296,9339383,9119412,8300619,7964452,20194725,20600873 737673,1641814,1641803,1599574,1599293 6888 NM_006755,NG_008160,AF010398,AF010399,AF010400,AF058913,AP006621,CH471158,L27346,U62747,AK295537,AK313427,BC009680,BC010103,BC018847,CR599118,CR607805,CR611492,CR619185,L19437 NP_006746,AAC52068,AAF40478,EAX02377,EAX02378,EAX02379,AAL31313,AAC51151,BAG58447,BAG36219,AAH10103,AAH18847,AAB53943,P37837,Q8WZ45,Q9UMF8 Hs.438678 TAL|TAL-H|TALDOR|TALH dihydroxyacetone transferase|glycerone transferase|transaldolase protein-coding 1353384 TALDOP1 transaldolase pseudogene 1 9339383,9119412,8300619 6889 AC099796,NG_009424 TAL-H|TALDO|TALDOP1 pseudo 1604561 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 14702039,12477932,12107410,11214970,16344560,15673434 85461 NM_033394,NM_001145909,AC009307,AC010093,CH471058,AA773835,AB051515,AK000401,AK023422,AK094285,AK123161,AK128859,AK308899,AL833258,BC037329,BC150597,BX648238,BX648327,CA394398,DA226268 NP_203752,NP_001139381,EAX11417,EAX11418,BAB21819,AAH37329,AAI50598,Q9C0D5 Hs.61590 FLJ13360|FLJ41166|KIAA1728|ROLSB|TANC TPR domain, ankyrin-repeat and coiled-coil-containing|protein TANC1|rolling pebbles homolog B|tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1 protein-coding 1603312 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 10574461,14702039,10997877,12477932 26115 NM_025185,AC005828,AC005972,AC006270,AC015923,AC037445,AB032974,AB046856,AJ278120,AK001077,AK021886,BC144357,CR601835 NP_079461,BAA86462,BAB13462,CAB92314,Q9HCD6,AAI72364 Hs.410889 DKFZp564D166|FLJ10215|FLJ11824|KIAA1148|KIAA1636|ROLSA|rols protein TANC2|putative ankyrin-repeat containing protein|rolling pebbles homolog B|tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2 protein-coding 734196 TANK TRAF family member-associated NFKB activator The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Two transcript variants encoding different isoforms have been found for this gene. 1580863 19262425,19453261,19573080,19773279,20331378,20562859,20484576,12005438,8710854,17823124,17568778,17327220,17081983,16336209,16189514,15489334,14743216,14517219,14499357,12477932,12133833,11279055,10759890,10581243,10490605,8855313,19913121,20628086,16914100,20568250 10010 NM_004180,NM_133484,AC009299,AC009313,AC078943,CH471058,AK313096,BC003388,BC067779,BT009855,CR602454,CR612977,U59863,U63830,NM_001199135 NP_004171,NP_597841,AAX88939,AAY14785,EAX11374,EAX11375,EAX11376,EAX11377,BAG35920,AAH03388,AAH67779,AAP88857,AAC50681,AAC50770,Q4ZG76,Q53TI5,Q6NW12,Q7Z4J6,Q92844,NP_001186064 Hs.132257 I-TRAF|TRAF2 OTTHUMP00000200694|OTTHUMP00000200695|OTTHUMP00000200696|OTTHUMP00000200698|OTTHUMP00000200700|OTTHUMP00000200703|OTTHUMP00000200704|TRAF family member-associated NF-kappa-B activator|TRAF-interacting protein|traf family member-associated nf-kappa b activator protein-coding 1351422 TAOK1 TAO kinase 1 14517247,19110211,18216281,17900936,17417629,17396146,17081983,16964243,16407310,15302935,14976552,14702039,13679851,20162290,20562859,12107410,10737800,10718198,10497253,9786855,12477932,18029348,19820697,19904549,8889548 57551 NM_020791,AC068588,AC090698,CH471159,CQ834802,AB037782,AF263312,AK024376,AY049015,BC032793,BC133039,BC144067,BE772351,CA395289,AC068025,CK300429,NM_025142,XR_109450 NP_065842,EAW51188,EAW51189,EAW51190,CAH05616,BAA92599,AAG38502,BAB14901,AAL12217,AAI33040,AAI44068,Q7L7X3,NP_079418 Hs.631758,Hs.727581 FLJ14314|KIAA1361|MAP3K16|MARKK|PSK2|TAO1 STE20-like kinase PSK2|hKFC-B|kinase from chicken homolog B|microtubule affinity regulating kinase kinase|serine/threonine kinase TAO1|serine/threonine protein kinase TAO1 homolog|serine/threonine-protein kinase TAO1|thousand and one amino acid protein 1 protein-coding 1351729 TAOK2 TAO kinase 2 1299457 10660600,18029348,19242545,17158878,16893890,14702039,13679851,12975309,12665513,12639963,12477932,12421765,11279118,10497253,10048485,9786855 1299457 9344 NM_004783,NM_016151,AC093512,CH471238,AB020688,AF061943,AF263313,AK057589,AK291473,AK304446,AL137701,AY358942,BC015204,BC031825,BC051798,BC054495,BC136653,BC136655,BC142663,BC144344,BC151221,BC152413 NP_004774,NP_057235,EAW79963,EAW79964,EAW79965,BAA74904,AAD45616,AAG38503,BAF84162,CAB70882,AAQ89301,AAH15204,AAH31825,AAH51798,AAI36654,AAI36656,AAI42664,AAI44345,AAI51222,AAI52414,Q6PIN8,Q86V37,Q9UL54,BAG65265 Hs.291623 KIAA0881|MAP3K17|PSK|PSK1|PSK1-BETA|TAO1|TAO2 PSK-1|hKFC-C|kinase from chicken homolog C|prostate derived STE20-like kinase PSK|prostate-derived STE20-like kinase 1|serine/threonine-protein kinase TAO2|thousand and one amino acid protein 2|thousand and one amino acid protein kinase protein-coding 1605388 TAOK3 TAO kinase 3 10559204,10924369,16344560,15489334,14996095,14702039,13679851,12477932,11278723,17478428,18029348,20379614 51347 AC026366,AC026367,AC073596,CH471054,AA744362,AF135158,AF161373,AF179867,AF181985,AF263311,AF328731,AI057643,AK056370,AK289558,AL833460,AL833731,NM_016281,BC002756,BT007185,DB066061,HH961884 NP_057365,EAW98124,EAW98125,AAG09131,AAF28933,AAF14559,AAF25817,AAG38501,AAN09723,BAG51691,BAF82247,CAH56239,AAH02756,AAP35849,Q9H2K8,Q9P0C6,ABM81622,ABM84807,CBX51415 Hs.644420 DKFZp666H245|DPK|FLJ31808|JIK|MAP3K18 CTCL-associated antigen HD-CL-09|JNK/SAPK-inhibitory kinase|STE20-like kinase|cutaneous T-cell lymphoma-associated antigen HD-CL-09|dendritic cell-derived protein kinase|hKFC-A|jun kinase-inhibitory kinase|kinase from chicken homolog A|serine/threonine-protein kinase TAO3|thousand and one amino acid protein 3 protein-coding 736475 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. [provided by RefSeq] 2312370,2312369,2312371,2312373,1331525,1580863 19387463,19343046,19263211,19258923,19247692,19217216,19202550,19188174,19148137,18764808,18694960,18433405,18385764,18380807,18342853,18248301,18199642,18191725,18071882,17982230,17947644,17940597,17917315,17875943,17703412,17649665,17581627,17525827,17498556,17491658,17418234,17382375,17245734,17164240,17068338,16956670,16923719,16864587,16731921,16691491,16640035,16634865,16604487,16407277,16356928,16216677,16215317,16191421,16189514,16174096,16112028,16061226,15905524,15897556,15887980,15778351,15711027,15686587,15548263,15488952,15343265,15336779,15322097,15306733,14976605,14749980,14702039,14694183,14679198,14551602,12911283,12878362,12857899,12827444,12786997,12777979,12777379,12729048,12687213,12682044,12648282,12648225,12645939,12640628,12634240,12594855,12582163,12539042,12507827,12505156,12485523,12477932,12234057,12225333,12213826,12047361,12026214,12018331,11960305,11788900,11775239,11774612,11737038,11591192,11532960,11381133,11250044,11250043,11194890,11169396,11157746,11096258,10508608,10227971,10074494,9774463,9545232,9310490,9175839,9103419,8955196,8805302,8670825,8640228,8568858,8458375,8453065,8248212,8168860,2342577,2259384,2259383,1570316,1529427,1453454,11884415,20877624,20141545,17055437,11133832,1946428,19480848,20820776,19913121,20628086,20673868,19404951,19297616,12047747,14558951,1538751,15518576,15577206,16828748,19439551,19549407,19609238,19808685,19851445,19953286,20134267,20193774,20204276,20230813,20450707,20452482,20470844,20503287,20525414,7538543,7673167 2312370,2312369,2312371,2312373,1331525 6890 NG_011759,NM_000593,AB012645,AF492485,AL669918,AL671681,AL935043,AY349134,BX088556,BX927138,CH471081,CR753889,CR762476,CR933844,U07197,U07198,U16763,X66401,X87344,AB012644,AK123494,AK130176,AK302340,AK313762,AY523970,AY523971,BC014081,BX648013,CR593495,CR596099,L21204,L21205,L21206,L21207,L21208,S70256,S70266,S70274,X57521,X57522 NP_000584,BAA32814,AAM11658,CAI18140,CAI17714,CAI18626,AAR05812,CAQ08449,EAX03646,EAX03647,EAX03648,EAX03649,EAX03650,EAX03651,EAX03652,CAQ10287,CAQ08495,CAQ08906,AAB60321,AAB60322,AAA89080,CAA47025,CAA60785,BAA32813,BAH13680,BAG36500,AAS55411,AAS55412,AAH14081,AAC12902,AAC12903,AAC12904,AAC12905,AAC12906,AAD14054,AAD14055,AAD14056,CAA40740,CAA40741,O94774,Q03518,Q12847,Q12848,Q13013,Q16148,Q53WZ1,Q69DM1,Q6QWC0,Q6QWC1,Q8TD77,Q9UEE1,ABM87349,ABW03876 Hs.352018 ABC17|ABCB2|APT1|D6S114E|FLJ26666|FLJ41500|PSF1|RING4|TAP1*0102N|TAP1N ABC transporter, MHC 1|ATP-binding cassette sub-family B member 2|ATP-binding cassette, sub-family B (MDR/TAP), member 2|PSF-1|antigen peptide transporter 1|peptide supply factor 1|peptide transporter PSF1|peptide transporter TAP1|peptide transporter involved in antigen processing 1|really interesting new gene 4 protein|transporter associated with antigen processing|transporter, ATP-binding cassette, major histocompatibility complex, 1 protein-coding 1348865 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq] 1601413,2312368,2312373,1580863 12826376,12786999,12786997,12777979,12777379,12729048,12717621,12687213,12682044,12648282,12648225,12645939,12634240,12594855,12507827,12505156,12485523,12477932,12234057,12225333,12213826,12047361,12026214,12018331,11960305,11916171,11775239,11774612,11737038,11494532,11381133,11294565,12911283,11229461,12047747,1946428,11133832,11532960,10835348,12202157,18029348,19480848,19404951,19387463,19343046,19297616,19263211,19258923,19217216,19202550,19188174,19148137,19116923,18976687,18764808,18694960,18433405,18385764,18309376,18248301,18071882,17982230,17947644,17703412,17581627,17525827,17491658,17245734,17192492,17068338,16923719,16886895,16721835,16690408,16634865,16595160,16395595,16356928,16216677,16215317,16210614,16191421,16174096,16112028,16061226,15887980,15548263,15489334,15488952,15385740,15343265,15336779,15318034,14749980,14679198,12963978,11096258,10560675,10508608,10227971,9916708,9672156,9551969,9373149,9324024,9175839,9103419,9002450,8955196,8805302,8773329,8670825,8568858,8458375,8453065,8428770,8162639,8125298,7835969,7792761,7517574,2259383,1741401,1570316,1538751,1529427,1453454,11157746,20439763,19913121,20587610,20628086,14558951,15518576,16828748,17055437,18650831,19549407,19609238,19851445,20083708,20193774,20204276,20453000,20470844,20503287,20525414,7538543,7673167,8496691 1601413,2312368,2312373 6891 NM_000544,NG_009793,AF100418,AF136750,AF415199,AL669918,AL671681,AL935043,AY007425,BX296564,BX682530,BX927138,CH471081,CR753889,CR762476,CT009500,CT009502,D42066,NM_018833,D78570,X66401,X87344,AB073779,AB208953,AF078671,AF105151,AF152583,AF176984,AK222823,AK223300,AK225657,AK225693,AK292963,AL833658,BC002751,BG423357,BT009906,FM246456,L09191,L09271,L10287,M74447,M84748,U07844,Z22935,Z22936 NP_061313,NP_000535,AAD23381,AAD23601,AAL07496,CAI18136,CAI18137,CAI17710,CAI17711,CAI18621,CAI18622,AAG12163,CAI41937,CAI41935,CAI41936,CAQ08443,CAQ08444,EAX03642,EAX03643,CAQ10282,CAQ10283,CAQ08490,CAQ08491,CAQ08243,BAA11414,CAA47027,CAA60788,BAB71769,BAD92190,AAD31384,AAD12059,AAD32715,AAD50509,BAD96543,BAD97020,BAF85652,AAP88908,CAR92541,AAA58648,BAA07665,AAA58649,AAA59841,AAA79901,CAA80522,CAA80523,Q03519,Q15547,Q53FI6,Q59H06,Q5HY71,Q5JNW1,Q96P38,Q96PT8,Q99591,Q9H4M2,Q9UMW6,Q9UP03,Q9UQ60,AAI52840,ACE87017 Hs.502 ABC18|ABCB3|APT2|D6S217E|PSF2|RING11 ABC transporter, MHC 2|ATP-binding cassette sub-family B member 3|ATP-binding cassette, sub-family B (MDR/TAP), member 3|OTTHUMP00000218770|PSF-2|antigen peptide transporter 2|peptide supply factor 2|peptide transporter PSF2|peptide transporter TAP2|peptide transporter involved in antigen processing 2|really interesting new gene 11 protein|transporter 2, ABC (ATP binding cassette) protein-coding 735382 TAPBP TAP binding protein (tapasin) This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq] 1599296,1580863 12788224,9238042,9271576,11884415,19217216,19167761,19119025,18694960,18261958,18248301,18196518,18039656,17498802,17389020,16322289,16193070,15743475,15634919,15489334,15455354,15163903,14978101,14668790,14607930,14574404,14519625,13678524,12682852,12594855,12582157,12477932,12463753,12213826,12200052,12149238,12018464,11972874,11970875,11862402,11823531,11132161,10636848,10508608,10088603,9802609,9545376,9545232,9521053,9110174,8805302,8769474,8619474,20532727,20070606,10382748,12047747,16344560,16828748,17055437,17947644,19701894,19728311,19776380,19851445,20017190,17207965 1599296 6892 CR591308,CR600344,CR614167,CR618722,EU693375,Y13582,NM_172208,NM_172209,NG_009876,AB012622,AB012920,AL662820,AL662827,BX248088,CH471081,CR759786,CR759817,Z97183,AB010639,AF009510,AF029750,AF067286,AF314222,AW451052,AY007154,BC064966,BC080574,CR591254,NM_003190,AU117273,AW028178,BI523615 ACD68200,CAA73909,O15533,Q6P1N7,NP_003181,NP_757345,NP_757346,BAA28758,BAA28759,CAI18120,CAI17523,CAI41784,EAX03715,EAX03716,EAX03717,EAX03718,EAX03719,EAX03720,CAQ08259,CAQ08260,CAQ08029,CAQ08030,BAA28757,AAC20076,AAB82949,AAD32924,AAG33061,AAH64966,AAH80574,Q5HYV0,ADQ32063 Hs.370937 NGS17|TAPA|TPN|TPSN|tapasin NGS-17|OTTHUMP00000215400|TAP-associated protein|TAP-binding protein|tap binding protein|tapasin protein-coding 1317352 TAPBPL TAP binding protein-like Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM] 737633,1580863 19773279,19204726,18340469,16344560,15489334,14702039,12477932,11920573,9373149,8125298,15340161 737633 55080 NM_018009,AC005840,CH471116,CS072294,AI184901,AI273155,AK001005,AK002056,AK098035,AK222956,AK223163,BC015017,CR594087,CR598232,CR604472,CR622967,CR997450,DB054664 NP_060479,EAW88797,EAW88798,EAW88799,CAI93432,BAA91465,BAB41077,BAD96676,BAD96883,AAH15017,Q53FW8,Q53GH5,Q9BX59,ADR82769 Hs.504597 FLJ10143|TAPBP-R|TAPBPR TAP binding protein related|TAP-binding protein-like|TAP-binding protein-related protein|TAPASIN-R|tapasin-like|tapasin-related protein protein-coding 1605561 TAPT1 transmembrane anterior posterior transformation 1 This gene encodes a highly conserved, putative transmembrane protein. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. This gene is proposed to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. An alternatively spliced transcript variant encoding a substantially different isoform has been described, but its biological validity has not been determined. [provided by RefSeq] 17151244,16303743,12477932,10640539,8605045 202018 NM_153365,AC108063,AC110088,CH471069,CQ783461,CQ834444,AA811306,AF189251,AK074494,AK296104,AK299163,BC066899,DB461077 NP_699196,EAW92754,EAW92755,EAW92756,EAW92757,EAW92758,EAW92759,EAW92760,EAW92761,EAW92762,CAF86657,CAH05437,AAF28308,BAC11022,BAG58855,BAG61211,AAH66899,Q6NXT6 Hs.479223 CMVFR|FLJ90013 cytomegalovirus partial fusion receptor|transmembrane anterior posterior transformation protein 1 homolog protein-coding 1349936 TAPVR1 total anomalous pulmonary venous return 1 6893 1347235 TARBP1 TAR (HIV-1) RNA binding protein 1 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq] 1580863 16710414,14702039,12477932,12458222,8626763,7638159,1936997,1752441,8846792,19422693,18412263,17903297,19615732,20379614 6894 AL355472,CH471098,AA714641,AK055044,BC016023,U38847,NM_005646,AL136124 CAI22828,CAI22931,EAW69993,AAC50379,Q13395,AAI56250,NP_005637 Hs.498115 FLJ30482|TRM3|TRP-185|TRP185 TAR (HIV) RNA binding protein 1|TAR (HIV) RNA-binding protein 1|TAR RNA loop binding protein|TAR RNA-binding protein 1|TAR RNA-binding protein of 185 kDa|probable methyltransferase TARBP1 protein-coding 1316539 TARBP2 TAR (HIV-1) RNA binding protein 2 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq] 1580863 17452327,2011739,19422693,19219043,19138993,19047128,18948111,18936160,18178619,17360756,16343534,16142218,15123692,14585207,12477932,12023963,11641396,11443112,11438532,11228241,11060498,10759868,10330179,8723388,8455607,7774957,20211142,20732906,20877318,7568151,20585341,15973356,16169070,16424907,19820710,19836333,20211803 6895 CR608571,CR610050,CR612616,CR612865,CR613878,CR619705,CR626085,CR626705,M60801,U08998,NM_004178,NM_134324,AC023509,AF281068,CH471054,AK290737,AK309569,BC002419,BC005860,BI771121,BT007140,CR593716,CR597935,CR599054,CR602082,CR606145,CR606778,CR608491,NM_134323 AAA36765,AAB50581,Q15633,ABM84475,ABM84857,NP_599150,NP_004169,NP_599151,AAL55730,AAL55731,EAW96717,EAW96718,EAW96719,EAW96720,BAF83426,AAH05860,AAP35804 Hs.326 LOQS|TRBP|TRBP1|TRBP2 RISC-loading complex subunit TARBP2|TAR (HIV) RNA binding protein 2|TAR (HIV) RNA-binding protein 2|TAR (HIV) RNA-binding protein TRBP1|TAR RNA binding protein 2|TAR RNA-binding protein 2|tar (hiv) rna binding protein 2|trans-activation responsive RNA-binding protein|trans-activation-responsive RNA-binding protein protein-coding 1353285 TARBP2P TAR (HIV-1) RNA binding protein 2 pseudogene 11060498,7774957,2011739 6896 NG_001199,AC007751,AF197477 TRBP tar (hiv) rna binding protein 2 pseudogene pseudo 1322081 TARDBP TAR DNA binding protein HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq] 1580863 20043239,20555136,20577002,20645878,20675015,20708823,8599929,15231747,18377426,7745706,18029348,19664364,19560462,19533646,19455346,19411082,19383787,19350673,19330339,19303844,19285963,19283396,19237541,19236453,19235466,19228676,19225410,19224587,19217189,19204172,19204154,19191304,16710414,16381901,16169070,16157593,15489336,15489334,12477932,12361981,11470789,11285240,11230166,11076863,9373149,8889548,8125298,17023659,21062285,21086759,19164285,17081983,19139911,19139310,19125255,19112176,19111550,19066918,19048944,19039597,19018245,18989684,18974920,18957508,18931000,18929508,18923836,18843496,18802454,18779421,18755042,18723524,18723384,18703504,18657254,18656473,18634762,18592312,18549326,18546284,18545701,18520774,18506455,18505686,18438952,18396105,18379440,18372902,18309045,18305152,18305110,18304732,18288693,18206910,18088371,18087705,18068872,17981595,17614162,17569066,17492294,17360763,19306141,19714537,20372915,20558162,20720505,20864052,20720006,20047951,19338576,20225928,20447446,20697052,20702714,11256614,17481916,17643375,19422539,19465477,19515851,19526244,19609911,19618195,19685386,19695877,19786775,19808791,19815002,19816201,19833869,19851068,19864663,19864664,19887443,19910924,19938687,19944744,19959528,20008652,20031275,20055380,20071528,20082726,20133711,20154090,20154440,20423455,20472325,20519548,20554523,20624952,20530643,20736350,20937952,19760257,20621187,21123567,20959352 23435 BC095435,BI464234,BM716882,CD703666,CR533534,CR611899,EF434181,EF434182,EF434183,U23731,BC071657,NG_008734,AL109811,CH471130,AF311304,AK222754,AK295920,AK299454,AK312416,AL045296,AL050265,BC001487,BC059955,NM_007375,HB886813,HC091208,HC944222 AAH71657,AAH95435,CAG38565,ABO32290,ABO32291,ABO32292,AAA70033,Q13148,Q9H256,CAL37794,ABZ92471,NP_031401,CAI22098,CAI22099,EAW71669,EAW71670,EAW71671,EAW71672,EAW71673,AAG47782,BAD96474,BAG58707,BAG61425,BAG35326,CAB43367,CBF67564,CBI68017,CBU92437 Hs.300624 ALS10|TDP-43 OTTHUMP00000002173|TAR DNA-binding protein 43|TAR DNA-binding protein-43 protein-coding 1343582 TARDBPL TAR DNA binding protein-like 643503 NG_009903,AL359954,CH471133 EAX10391 TARDBPL|bA318P23.1 pseudo 3399181 TARM1 T cell-interacting, activating receptor on myeloid cells 1 19050727 441864 AC012314,AK301730,DQ479398,NM_001135686 ABF19808,B6A8C7,BAG63196,NP_001129158 Hs.694674 OLT-2 OSCAR-like transcript-2 protein|T-cell-interacting, activating receptor on myeloid cells protein 1 protein-coding 1604885 TARP TCR gamma alternate reading frame protein In some non-lymphoid tissues, the unrearranged T cell receptor gamma (TRG@) locus is expressed. The resulting transcript contains a subset of the TRG@ gene segments and is shorter than TRG@ transcripts expressed in lymphoid tissues. This RefSeq record represents the unrearranged TRG@ locus transcript; the complete TRG@ locus is represented by the genomic RefSeq NG_001336. The transcript represented by this RefSeq has two open reading frames (ORFs) that encode different proteins. The downstream ORF is in the same frame as TRG@ and its protein product is similar to TRG@ proteins. The upstream ORF uses a different reading frame and encodes a novel protein. [provided by RefSeq] 20499060,18321859,15150260,12865322,12477932,11719440,10931945,10430935,3112943,3102973,2961573,2955517,2949984,20376779,20413723,20558613 445347 NM_001003799,NM_001003806,NG_001336,AC006033,AF151104,CH236951,AF151103,BC017861,BC030554,BC105589,BF674593,M16804,M17324,M17325,M27331,M27332,M27334,M30894,X06774,X06775,Y00790,GN344123,GN344125 CAA68744,Q0VGM3,NP_001003799,NP_001003806,AAG29337,AAI05590,AAA61124,AAB63313,AAB63314,AAA61112,AAA61113,AAA61114,AAA61123,CAA29941,CAA29942,CAA29943,CAY55997,CAY55998 Hs.534032 CD3G|TCRG|TCRGC1|TCRGC2 OTTHUMP00000207440|T cell receptor gamma alternate reading frame protein|T cell receptor gamma chain|T-cell receptor gamma-chain constant region|TCR gamma alternate reading frame protein protein-coding 1347839 TARS threonyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq] 1580863 20562859,17220478,17353931,2033077,17203973,15489334,14702039,12477932,9373149,8125298,8049265,7118437,7118399,3464105,2747635,7626230 6897 NM_152295,AC025441,AC034231,CH471118,AK095852,AK222804,AK292346,AK293620,AK296783,AK308342,AK315713,AW246273,BC000517,BC003699,BC010578,BC088355,BF028586,CR598000,M63180 NP_689508,EAX10803,EAX10804,BAG53144,BAD96524,BAF85035,BAG57079,BAG59361,BAG38072,AAH00517,AAH10578,AAH88355,AAB04939,P26639,Q53GX7,Q5M7Z9,ABM82342,ABM85516,ACE87131 Hs.481860 MGC9344|ThrRS OTTHUMP00000221016|threonine tRNA ligase 1, cytoplasmic|threonine--tRNA ligase|threonyl-tRNA synthetase, cytoplasmic protein-coding 1344526 TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative) 19209188,16710414,15779907,15489334,14702039,12477932,9373149,8125298,20877624 80222 NM_025150,AL356356,CH471121,AK022590,AK222814,AK225368,AK298773,AK315507,AL512732,AY450558,BC000541,BC007824,BC009997 NP_079426,CAI15487,CAI15488,CAI15489,CAI15490,EAW53548,EAW53549,EAW53550,BAB14117,BAD96534,BAG60915,CAC21664,AAR23527,AAH00541,AAH07824,AAH09997,Q5T5E9,Q6ST48,Q9BW92,Q9H045,Q9H9V2 Hs.288974 FLJ12528|TARSL1 OTTHUMP00000014941|thrRS|threonine tRNA ligase 2, mitochondrial|threonine--tRNA ligase|threonyl-tRNA synthetase, mitochondrial|threonyl-tRNA synthetase-like 1|threonyl-trna synthetase-like 1 protein-coding 1351710 TARSL2 threonyl-tRNA synthetase-like 2 1580863 14702039,12477932,8889548,20379614 123283 NM_152334,AC027559,AC090164,CH471101,AK056653,AK057734,AL833188,AW161214,BC035827,BC069346,BC069811,BC074887,BC132671,BC136315,BC143943,BE856588,BU677165 NP_689547,EAX02316,BAB71241,BAB71554,AAH69346,AAH69811,AAH74887,AAI32672,AAI36316,AAI43944,A2RTX5 Hs.657163 FLJ25005 probable threonyl-tRNA synthetase 2, cytoplasmic|thrRS|threonine--tRNA ligase|threonyl-tRNA synthetase-like protein 2 protein-coding 732021 TAS1R1 taste receptor, type 1, member 1 The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 20660057,11917125,17108952,19146926,17724330,17506496,16710414,15353592,12856281,11894099,11891061,10052456,12477932,19571223,19587085,19625681,19696921,19962942,20468064 80835 CS250332,CS250334,AF387617,AF387618,AF387619,AF387620,AK292014,AK293499,AK315805,BC136515,BC136516,BK000153,CA426652,NM_138697,NM_177540,AB065618,AL591866,CH471130,CS250328,CS250330,AI742401 CAJ58408,CAJ58409,AAL91358,AAL91359,AAL91360,AAL91361,BAF84703,BAG56985,BAG38146,AAI36516,AAI36517,DAA00012,Q5SY23,Q7RTX1,CAJ58407,NP_619642,NP_803884,BAC05845,CAI16073,CAI16074,CAI16075,CAI16076,EAW71551,EAW71552,EAW71553,EAW71554,CAJ58406 Hs.124574 GM148|GPR70|T1R1|TR1|gm148 G protein-coupled receptor 70|G-protein coupled receptor 70|OTTHUMP00000001582|OTTHUMP00000001583|seven transmembrane helix receptor|taste receptor type 1 member 1 protein-coding 1353489 TAS1R2 taste receptor, type 1, member 2 1580863 11894099,20943793,11917125,16720576,17935609,17108952,16710414,16633339,14636554,12856281,12706725,10052456,19664591,20070850,20173092,20302879,20468064,20858777 80834 NM_152232,AF458154,AL831755,BX537160,CH471134,BK000151,FB676145,FB701754,FB701764 NP_689418,AAM12239,CAI17299,CAH69954,EAW94857,DAA00019,Q8TE23,AAI41438,CAS03327,CAS03332,CAS03501 Hs.553548 GPR71|T1R2|TR2 G protein-coupled receptor 71|G-protein coupled receptor 71|sweet taste receptor T1R2|taste receptor type 1 member 2 protein-coding 1344836 TAS1R3 taste receptor, type 1, member 3 The TAS1R3 gene encodes the human homolog of mouse Sac, a major determinant of differences between sweet-sensitive and -insensitive mouse strains in their responsiveness to sucrose, saccharine, and other sweeteners.[supplied by OMIM] 11917125,16720576,19587085,19559618,19146926,18539481,17935609,17928076,17499612,17108952,16710414,16633339,15668251,15585941,15353592,15299024,12892531,12706725,11894099,11326277,11319557,19083128,19571223,19664591,20302879 83756 NM_152228,AB065647,AC026283,AL139287,CH471183,AK122959,BK000152,CS448306,FB676147,FB701756,GM692547,HC305278 NP_689414,BAC05873,CAI23184,EAW56228,DAA00013,Q7RTX0,AAI52913,CAL69810,CAS03328,CAS03502,CAV33588,CBJ18622 Hs.74375 T1R3 sweet taste receptor T1R3|taste receptor type 1 member 3 protein-coding 1352499 TAS2R1 taste receptor, type 2, member 1 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10766221,10761935,19812673,20599705 634075 50834 NM_019599,AB198983,AB198984,AB198985,AC003015,AC026787,AC034214,AF227129,AY724812,CH471102,CS008129,BC095521,BC101729,BC101731,GM829120 NP_062545,BAD97889,BAD97890,BAD97891,AAF43902,AAU21051,EAX08075,CAI53516,AAH95521,AAI01730,AAI01732,Q502V6,Q50L07,Q50L08,Q9NYW7,CAV28563 Hs.567492 MGC126778|MGC126780|T2R1|TRB7 taste receptor family B member 7|taste receptor type 2 member 1|taste receptor, family B, member 7 protein-coding 1347690 TAS2R10 taste receptor, type 2, member 10 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15759003,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50839 NM_023921,AB199073,AB199074,AB199075,AC006518,AF227136,CH471094,CS008213,BC069089,BC101762,BC101764,CS008207,GM829122 NP_076410,BAD97974,BAD97975,BAD97976,AAF43909,EAW96211,CAI53558,AAH69089,AAI01763,AAI01765,Q50KS2,Q50KS3,Q50KS4,Q9NYW0,CAI53555,CAV28564 Hs.533756 MGC126811|MGC126813|T2R10|TRB2 taste receptor family B member 2|taste receptor type 2 member 10|taste receptor, family B, member 2 protein-coding 1353239 TAS2R12 taste receptor, type 2, member 12 pseudogene 15744053,15496549,12581520,12139982,11696554 266656 NG_005300,AC006518,AX097717,AY724947 P59531 PS10|T2R12|TAS2R26 taste receptor, type 2, member 12 pseudo 1344570 TAS2R13 taste receptor, type 2, member 13 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935,17207965 634075 50838 NM_023920,AB199106,AB199107,AB199108,AC006518,AF227137,CH471094,CS008215,BC069376,BC095518,BC115402,BC115403 NP_076409,BAD97991,BAD97992,BAD97993,AAF43910,EAW96218,CAI53559,AAH69376,AAH95518,AAI15403,Q50KQ5,Q50KQ6,Q9NYV9,ADQ32895 Hs.679407 T2R13|TRB3 taste receptor family B member 3|taste receptor type 2 member 13|taste receptor, family B, member 3 protein-coding 1349558 TAS2R14 taste receptor, type 2, member 14 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 16720576,16335952,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935,10761934,20930049,20534144 634075 50840 NM_023922,AB199117,AB199118,AB199119,AC006518,AF227138,CH471094,CS008219,AK123548,BC069148,BC101993,BC101994,BC103699 NP_076411,BAD98002,BAD98003,BAD98004,AAF43911,EAW96222,CAI53561,BAC85643,AAH69148,AAI01994,AAI01995,AAI03700,Q50KP5,Q6ZW62,Q9NYV8 Hs.408153,Hs.679406 MGC125491|MGC125492|T2R14|TRB1 taste receptor family B member 1|taste receptor type 2 member 14|taste receptor, family B, member 1 protein-coding 1352924 TAS2R15 taste receptor, type 2, member 15 pseudogene 15744053,15496549,12679530 266657 NG_002788,AC006518,AX097723,AY724951,BK001065 PS8|T2R15 taste receptor, type 2, member 15 pseudo 1343606 TAS2R16 taste receptor, type 2, member 16 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq] 634075,1580863 20605788,16720576,10761934,18524836,17250611,16385453,15759003,15744053,15496549,15489334,12853948,12581520,12477932,12379855,12139982,11696554,10774719,10766242,10766221,10761935,20965151 634075 50833 NM_016945,NG_011980,AB199132,AB199133,AB199134,AC004838,AF227139,CH236947,CH471070,CS008227,BC095524,GM829126 NP_058641,BAD98011,BAD98012,BAD98013,AAP21892,AAF43912,EAL24338,EAW83581,CAI53565,AAH95524,Q50KN5,Q50KN6,Q9NYV7,CAV28566 Hs.272395 T2R16 candidate taste receptor T2R16|taste receptor type 2 member 16 protein-coding 1348969 TAS2R18 taste receptor, type 2, member 18 266658 AX097728 T2R18 protein-coding 1353941 TAS2R19 taste receptor, type 2, member 19 266659 AX097730 T2R19 protein-coding 1349734 TAS2R2 taste receptor, type 2, member 2 pseudogene 15744053,15496549 338396 NG_005302,AC013470,AX097698,AY724965,CH236948 PS9|T2R02|T2R2 taste receptor, type 2, member 2 pseudo 1343952 TAS2R20 taste receptor, type 2, member 20 266660 AX097732 T2R20 protein-coding 1348945 TAS2R22 taste receptor, type 2, member 22 266661 AX097735 T2R22 miscrna 1352038 TAS2R23 taste receptor, type 2, member 23 266662 AX097737 T2R23 protein-coding 1345631 TAS2R3 taste receptor, type 2, member 3 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq] 1580863 10761934,15744053,15496549,15489334,12853948,12690205,12581520,12477932,12139982,11696554,11437385,10774719,10766242,10766221,10761935,19372376 50831 BC095523,AB199002,AB199003,AB199004,AC004979,AF227130,AY724961,NM_016943,CH236950,CH471070,CS008135,CS300826,BC069337 AAH95523,Q50KY9,Q50KZ1,Q9NYW6,NP_058639,BAD97907,BAD97908,BAD97909,AAS02038,AAF43903,AAU21157,EAL24017,EAW83982,CAI53519,CAK32490,AAH69337 Hs.676011 T2R3 candidate taste receptor T2R3|taste receptor type 2 member 3 protein-coding 1350051 TAS2R30 taste receptor, type 2, member 30 266663 AX097746 T2R30 protein-coding 1353388 TAS2R31 taste receptor, type 2, member 31 266664 AX097748 T2R31 protein-coding 1346808 TAS2R33 taste receptor, type 2, member 33 266665 AX097751 T2R33 taste receptor, type 2, member 33 protein-coding 1353414 TAS2R36 taste receptor, type 2, member 36 266666 AX097755 T2R36 taste receptor, type 2, member 36 protein-coding 1344875 TAS2R37 taste receptor, type 2, member 37 266667 AX097757 T2R37 taste receptor, type 2, member 37 protein-coding 1346793 TAS2R38 taste receptor, type 2, member 38 1580863 19913121,20551074,20594349,20628086,20675712,15687429,15496549,15489334,15466815,15337684,14997422,12690205,12624758,12595690,12584440,12581520,12477932,12379855,12139982,11696554,6745938,20858777,18719631,18712160,18524836,18393128,18209019,17662150,17250611,16979544,16607493,16298720,15883422,15744053,15733260,19779476,19782709,20484932 5726 NM_176817,AB199146,AB199147,AB199148,AC073647,AF494231,AY114095,AY258597,AY258598,CH236950,CH471070,CS008241,CS008247,BC104933,BC104937,NG_016141 NP_789787,BAD98025,BAD98026,BAD98027,AAM19322,AAM63545,AAP14666,AAP14667,EAL24011,EAW83993,CAI53572,CAI53575,AAI04934,AAI04938,P59533,Q50KM1,Q50KM2,Q50KM3,Q86UK4 Hs.647085 PTC|T2R38|T2R61 PTC bitter taste receptor|taste receptor type 2 member 38|taste receptor type 2 member 61 protein-coding 1350058 TAS2R39 taste receptor, type 2, member 39 1580863 15744053,15496549,15489334,12581520,12477932,12379855,12139982,11696554 259285 AB199156,AB199157,AB199158,AC073342,AF494230,CH236959,CH471198,CS008249,BC100947,BC100948,NM_176881,BC114952 NP_795362,BAD98035,BAD98036,BAD98037,AAM19321,EAW51884,EAW51885,EAW51886,CAI53576,AAI00948,AAI00949,AAI14953,P59534,Q50KL2,AAI60088 Hs.553660 T2R39|T2R57 OTTHUMP00000202102|taste receptor type 2 member 39|taste receptor type 2 member 57 protein-coding 1342891 TAS2R4 taste receptor, type 2, member 4 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq] 634075,1580863 10761934,15744053,15496549,12853948,12581520,12139982,11696554,11437385,10774719,10766242,10766221,10761935,12477932 634075 50832 NM_016944,AB199016,AB199017,AB199018,AC004979,AF227131,AJ415015,AJ415131,AJ415288,AJ415400,CH236950,CH471070,CS008143,BC130439,BC136508 NP_058640,BAD97921,BAD97922,BAD97923,AAS02039,AAF43904,CAC94173,CAC94265,CAC94358,CAC94451,EAL24016,EAW83983,CAI53523,AAI30440,AAI36509,Q50KX5,Q50KX7,Q9NYW5,ADR83126 Hs.669863 MGC163311|T2R4 candidate taste receptor T2R4|taste receptor type 2 member 4 protein-coding 1351253 TAS2R40 taste receptor, type 2, member 40 1580863 15744053,15496549,15489334,12690205,12581520,12477932,12379855,12139982,11696554 259286 NM_176882,AB199167,AB199168,AB199169,AC073342,AF494229,CH236959,CH471198,CS008253,BC101795,BC101797 NP_795363,BAD98041,BAD98042,BAD98043,AAM19320,EAL23782,EAW51882,CAI53578,AAI01796,AAI01798,P59535,Q50KK5,Q50KK6 Hs.352241 GPR60|MGC126844|MGC126846|T2R40|T2R58 G protein-coupled receptor 60|G-protein coupled receptor 60|taste receptor type 2 member 40|taste receptor type 2 member 58 protein-coding 1353850 TAS2R41 taste receptor, type 2, member 41 1580863 15744053,15496549,12584440,12581520,12477932,12379855,12139982,11696554 259287 AB199177,AB199178,AB199179,AC073264,AF494232,AY114093,CH236959,CS008263,CS008267,BC101157,BC101158,NM_176883 NP_795364,BAD98051,BAD98052,BAD98053,AAM19323,AAM63543,CAI53583,CAI53585,AAI01158,AAI01159,P59536 Hs.650648 MGC119928|MGC119929|T2R41|T2R59 taste receptor type 2 member 41|taste receptor type 2 member 59 protein-coding 1344406 TAS2R42 taste receptor, type 2, member 42 15744053,15496549,12679530,16541075,12477932 353164 NM_181429,AB199240,AB199241,AB199242,AC010176,AX097739,BK001099,CH471094,BC131742 NP_852094,BAD98112,BAD98113,BAD98114,DAA01206,EAW96229,AAI31743,Q50KD4,Q50KD5,Q50KD6,Q7RTR8 Hs.553716 T2R24|T2R55|TAS2R55|hT2R55 T2R42|candidate taste receptor hT2R55|taste receptor T2R55|taste receptor type 2 member 42|taste receptor type 2 member 55 protein-coding 1346884 TAS2R43 taste receptor, type 2, member 43 TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM] 1580863 16720576,17702579,15744053,15537898,15496549,15489334,12584440,12581520,12477932,12379855,12139982,11696554,19628819 259289 NM_176884,AB199182,AC018630,AF494237,AY114089,BC117423 NP_795365,BAD98056,AAM19328,AAM63539,AAI17424,P59537,Q50KJ2 Hs.688195 T2R43|T2R52 taste receptor type 2 member 43|taste receptor type 2 member 52 protein-coding 1345755 TAS2R44 taste receptor, type 2, member 44 1580863 17702579,15537898,15496549,15489334,15337684,12584440,12581520,12477932,12379855,12139982,11696554 259290 NM_176885,AC018630,AF494228,AY114090,AY724942,CH471094,CS008275,CS008277,BC117421 NP_795366,AAM19319,AAM63540,AAU21144,EAW96226,CAI53589,CAI53590,AAI17422,P59538 Hs.688197 T2R44|T2R53 protein-coding 1349656 TAS2R45 taste receptor, type 2, member 45 1580863 15744053,12581520,12477932,12379855,12139982,11696554 259291 NM_176886,AB199191,AB199192,AF494226,CH471094,AF264628,BC101154,BC101155,BC101156 NP_795367,BAD98065,BAD98066,AAM19317,EAW96228,AAG03020,AAI01155,AAI01156,AAI01157,P59539,Q495I5,Q50KI2,Q9HD50 Hs.287378 GPR59|MGC119923|MGC119924|MGC119925|T2R45|ZG24P G protein-coupled receptor 59|G-protein coupled receptor 59|taste receptor type 2 member 45 protein-coding 1353935 TAS2R46 taste receptor, type 2, member 46 1580863 15744053,15496549,12584440,12581520,12477932,12379855,12139982,11696554 259292 NM_176887,AB199204,AB199205,AC018630,AF494227,AY114091,CH471094,CS008289,BC115401,GM829124 NP_795368,BAD98077,BAD98078,AAM19318,AAM63541,EAW96227,CAI53596,P59540,Q50KH0,Q50KH1,CAV28565 Hs.688193 MGC134865|T2R46|T2R54 taste receptor type 2 member 46|taste receptor type 2 member 54 protein-coding 1343190 TAS2R47 taste receptor, type 2, member 47 1580863 15744053,15496549,12581520,12379855,12139982,11696554 259293 NM_001097643,AB199208,AC018630,AF494233,AY724940,CS008297 AAI56866,Q50KG7,NP_001091112,BAD98081,AAM19324,AAU21142,CAI53600,P59541 Hs.679464 protein-coding 1346988 TAS2R48 taste receptor, type 2, member 48 1580863 17081983,15744053,15496549,15489334,12581520,12477932,12379855,12139982,11696554 259294 NM_176888,AB199215,AB199216,AB199217,AC018630,AF494234,AY724939,CH471094,CS008305,AF116728,BC101804,BC111998 NP_795369,BAD98088,BAD98089,BAD98090,AAM19325,AAU21141,EAW96225,CAI53604,AAO15304,AAI01805,AAI11999,P59542,Q50KF8,Q50KF9,Q71U75 Hs.687025,Hs.688196 MGC126853|MGC138203|MSTP058|T2R48 protein-coding 1350205 TAS2R49 taste receptor, type 2, member 49 1580863 15744053,15496549,15489334,12584440,12581520,12477932,12379855,12139982,11696554 259295 NM_176889,AB199221,AB199222,AB199223,AC018630,AF494236,AY114092,AY724938,CH471094,CS008321,BC100915,BC100916,BC100917,BC100918,BC113843,BC114451,N24163 NP_795370,BAD98094,BAD98095,BAD98096,AAM19327,AAM63542,AAU21140,EAW96224,CAI53612,AAI00916,AAI00917,AAI00918,AAI00919,AAI13844,AAI14452,P59543,Q496D7,Q50KF2,Q50KF3,Q50KF4 Hs.686384 MGC119118|MGC119119|MGC119120|MGC119121|MGC134637|T2R49|T2R56 protein-coding 1353421 TAS2R5 taste receptor, type 2, member 5 This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq] 1580863 15489334,12853948,12690205,12581520,12477932,12139982,11696554,10774719,10766242,10766221,10737800,17207965,10761934,10761935,17108952,15744053,15496549 54429 AB199028,AB199029,AB199030,AC004979,AF227132,CH236950,CH471070,CS008155,AW881072,BC069509,NM_018980,BC095522,BC101586,BC101588 ADQ32871,NP_061853,BAD97933,BAD97934,BAD97935,AAS02040,AAF43905,EAL24015,EAW83984,CAI53529,AAH69509,AAH95522,AAI01587,AAI01589,Q502V5,Q50KW3,Q50KW4,Q9NYW4 Hs.675370 MGC126635|MGC126637|T2R5 taste receptor type 2 member 5 protein-coding 1347594 TAS2R50 taste receptor, type 2, member 50 TAS2R50 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM] 1580863 17975119,17967605,16175505,15744053,15496549,15489334,12584440,12581520,12477932,12379855,12139982,11696554,19023099,19709766,19817411 259296 NM_176890,AB199231,AB199232,AB199233,AC018630,AF494235,AY114088,CH471094,CS008125,CS008335,CS008337,BC112100 NP_795371,BAD98104,BAD98105,BAD98106,AAM19326,AAM63538,EAW96223,CAI53514,CAI53619,CAI53620,AAI12101,P59544,Q50KE2,Q50KE3,Q50KE4 Hs.688194 MGC138305|T2R50|T2R51|TAS2R51 OTTHUMP00000222578|taste receptor type 2 member 50|taste receptor type 2 member 51 protein-coding 1351386 TAS2R6 taste receptor, type 2, member 6 338397 AX097706 T2R06|T2R6 taste receptor, type 2, member 6 protein-coding 1347652 TAS2R60 taste receptor, type 2, member 60 1580863 12584440,15744053,15496549,15489334,12690205,12679530,12581520,12477932,12139982,11696554 338398 NM_177437,AB199253,AB199254,AB199255,AC092214,AY114094,AY724955,BK001100,CH236959,CS008343,BC100938,BC100939,BC100940,BC100941 NP_803186,BAD98119,BAD98120,BAD98121,AAM63544,AAU21151,DAA01207,EAL23790,CAI53623,AAI00939,AAI00940,AAI00941,P59551,Q50KC8 Hs.688222 MGC119154|MGC119155|T2R56|T2R60 taste receptor type 2 member 56|taste receptor type 2 member 60 protein-coding 1342939 TAS2R62P taste receptor, type 2, member 62 pseudogene 15496549,12679530,12584440 338399 NG_002653,AC092214,AY114096,AY724964,BK001058,CH236959 PS1|T2R62|TAS2R62 pseudo 1345577 TAS2R63P taste receptor, type 2, member 63 pseudogene 15496549,12679530,12584440 338413 NG_002675,AC018630,AY114097,AY724950,BK001063 PS6|T2R63 pseudo 1351930 TAS2R64P taste receptor, type 2, member 64 pseudogene 15496549,12679530,12584440 338412 NG_002674,AC018630,AY114098,AY724952,BK001059,NG_023981 PS2|T2R64|T2R64P pseudo 1348917 TAS2R65P taste receptor, type 2, member 65 pseudogene 15496549,12679530,12584440 338414 NG_002676,AC134349,AY114099,AY724948,BK001061 PS4|T2R65|TAS2R65 pseudo 1347137 TAS2R7 taste receptor, type 2, member 7 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50837 NM_023919,AB199038,AB199039,AC006518,AF227133,CH471094,CS008169,BC069091,BC093992,BC113561,AB199037 NP_076408,BAD97941,BAD97942,BAD97943,AAF43906,EAW96208,CAI53536,AAH69091,AAH93992,AAI13562,Q50KV5,Q50KV7,Q9NYW3 Hs.533754 MGC142121|T2R7|TRB4 taste receptor family B member 4|taste receptor type 2 member 7|taste receptor, family B, member 4 protein-coding 1344558 TAS2R8 taste receptor, type 2, member 8 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935,17207965 634075 50836 NM_023918,AB199051,AB199052,AB199053,AC006518,AF227134,AY724935,CH471094,CS008179,BC069084,BC069551,BC096701,BC096735,BC098167,BC098353 NP_076407,BAD97955,BAD97956,BAD97957,AAF43907,AAU21137,EAW96209,CAI53541,AAH69084,AAH69551,AAH96701,AAH96735,AAH98167,AAH98353,Q4KN04,Q50KU1,Q50KU2,Q9NYW2,ADQ31922 Hs.533755 T2R8|TRB5 taste receptor family B member 5|taste receptor type 2 member 8|taste receptor, family B, member 5 protein-coding 1342904 TAS2R9 taste receptor, type 2, member 9 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq] 634075,1580863 10761934,19092995,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50835 NM_023917,AB199063,AB199064,AB199065,AC006518,AF227135,CH471094,CS008191,BC069066,BC095519 NP_076406,BAD97966,BAD97967,BAD97968,AAF43908,EAW96210,CAI53547,AAH69066,AAH95519,Q9NYW1 Hs.272391 T2R9|TRB6 taste receptor family B member 6|taste receptor type 2 member 9|taste receptor, family B, member 6 protein-coding 1318453 TASP1 taspase, threonine aspartase, 1 This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 18395097,16537915,16216576,15489334,14702039,14636557,12482972,12477932,11780052,20516119,12393701 55617 NM_017714,AL121754,AL121782,AL158089,CH471133,CS001898,AK000219,AK025671,AK299940,AK304488,AK316311,AL601028,BC025266,CA418131,CR598923,CR612407,HB869056,HC926465 NP_060184,CAC01509,CAI22071,EAX10314,EAX10315,EAX10316,EAX10317,BAA91018,BAB15209,BAH13176,BAH14199,BAH14682,AAH25266,Q9H6P5,CAI21890,CBF58493,CBU83928 Hs.348297 C20orf13|FLJ20212|MGC39159|dJ585I14.2 OTTHUMP00000030299|taspase 1|taspase-1|threonine aspartase 1 protein-coding 736963 TAT tyrosine aminotransferase This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq] 1300048,1600125,1580863 1973834,18945316,18721127,16917729,16892178,16574453,15027097,12477932,12417987,9544843,7999802,7908801,6124417,4389443,2891604,2870018,1357662,1356171,12588988,12944466,11704662,20209601 1600125 6898 NM_000353,NG_008235,AC010547,CH471166,X52509,AK313380,BC020707,BC022292,BC130534,X52520,X55675 NP_000344,EAW59230,EAW59231,CAA36749,BAG36178,AAH20707,AAI30535,CAA36750,CAA39210,P17735,Q8WW92,ADR82987 Hs.161640 L-tyrosine:2-oxoglutarate aminotransferase|tyrosine aminotransferase|tyrosine aminotransferase, cytosolic protein-coding 1313148 TATDN1 TatD DNase domain containing 1 737633 14713272,14702039,12477932 737633 83940 NM_032026,NM_001146160,NR_027427,AC090198,CH471060,AF212250,AK094861,AK125270,AK312204,AV729364,AY071865,BC007066,BC064964,CR614010 NP_114415,NP_001139632,EAW92065,EAW92066,EAW92067,AAK14933,BAG35137,AAL61823,AAH64964,Q6P1N9 Hs.170568 CDA11|FLJ43280 hepatocarcinoma high expression protein|putative deoxyribonuclease TATDN1 protein-coding 1349644 TATDN2 TatD DNase domain containing 2 1580863 12477932,9039502,18954468,15342556,15302935,20800603 9797 NM_014760,AC022384,CH471055,AK289794,AK311203,AW274827,BC090935,BC101770,BC101776,BG674405,BP249277,CR605569,CR620522,D86972 NP_055575,EAW64070,EAW64071,EAW64072,BAF82483,AAH90935,AAI01771,AAI01777,BAA13208,Q93075 Hs.475401 KIAA0218|MGC126819|MGC126825 OTTHUMP00000207802|OTTHUMP00000207804|putative deoxyribonuclease TATDN2 protein-coding 4889221 TATDN2P1 TatD DNase domain containing 2 pseudogene 1 100131103 AL133344,NG_011742 FLJ22843 pseudo 4889287 TATDN2P2 TatD DNase domain containing 2 pseudogene 2 100272205 AL591025,NG_011739 KIAA0218 pseudo 4889242 TATDN2P3 TatD DNase domain containing 2 pseudogene 3 100420458 AL160256,NG_024898 pseudo 1604534 TATDN3 TatD DNase domain containing 3 16344560,12477932,12136098,16712791,20877624 128387 NM_001042552,NM_001042553,NM_001146169,NM_001146170,NM_001146171,AC104333,AJ329885,CH471100,AI990055,AK293129,AK295335,AK304557,AL832248,BC048115,BC113638,BC117485,BC143956,BC143957,CB118191,CR619489,DB351940,DB456872 NP_001036017,NP_001036018,NP_001139641,NP_001139642,NP_001139643,EAW93376,EAW93377,EAW93378,BAH11457,BAH12035,BAH14214,AAH48115,AAI13639,AAI17486,AAI43957,Q17R31,ADR82915 Hs.530538 MGC142198 putative deoxyribonuclease TATDN3 protein-coding 1348047 TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1 18434448,17635994,16381901,15489336,15489334,15342556,15231748,14697242,14530271,12853948,12690205,12477932,11893730,11389905,11230166,11076863,9847074,19131965,16169070,17703191,18239685,18246070,20185725,10920205,10435631,20734064,20304918,20549079,9733879 8887 NM_001079864,AC004549,AC005091,CH236948,CH471073,AA481381,AF090891,AF268075,AK000098,NM_006024,AK296720,AK299729,AK301064,AK309757,AK314292,AL136586,BC024600,BC050358,BP280714,CR457056,CR533556,CR602905,CR618618,CR622233,DB553566,U33821 NP_006015,NP_001073333,AAC13359,AAD15412,EAL24213,EAW93901,EAW93902,EAW93903,EAW93904,AAF24016,AAG03025,BAG59309,BAG61627,BAG62671,BAG36949,CAB66521,AAH50358,CAG33337,CAG38587,AAA75595,Q86VP1,CAL38710 Hs.34576 CALCOCO3|T6BP|TXBP151 OTTHUMP00000202276|TRAF6-binding protein|tax1-binding protein 1 protein-coding 1318972 TAX1BP3 Tax1 (human T-cell leukemia virus type I) binding protein 3 1580863 10940294,18690705,16855024,15492812,15489334,14702039,12874278,12477932,11163757,10673275,9482110,8619474,16169070,14679154,19635485,17207965 30851 AC027796,AC132942,AF168787,CH471108,AF028823,AF234997,AF277318,AK001327,AK315408,BC023980,CR591740,CR595900,CR601638,CR602958,CR606404,NM_014604,CR606577,CR607043,CR609956,CR612777,CR615413,CR619400,U90913 NP_055419,AAF43104,EAW90491,EAW90492,EAW90493,AAB84248,AAG44368,AAK69111,BAG37800,AAH23980,O14907,ADQ32196 Hs.12956 TIP-1 Tax interaction protein 1|glutaminase-interacting protein 3|tax1-binding protein 3 protein-coding 1351979 TAZ tafazzin This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq] 1580863,1578363 12930833,17043667,11118295,16873891,15304507,16857210,19261493,18799610,16381901,16344560,16020776,15793838,15499385,15489336,15098233,12477932,12032589,11896212,11238270,11076863,10484795,10407787,9382097,9382096,9332651,8889548,8630491,8281148,8042670,7616547,5455540,12065584,19619503,20858893,11118213,16169070,19164547,19700766,20474083 1578363 6901 DQ173641,DQ173642,X92763,AK130900,AK291848,AY231461,AY231462,AY231463,AY231464,AY258036,AY258037,AY258038,AY258039,BC005062,BC011515,BI822925,BX401320,CA488175,CN478633,CR590626,CR596174,CR599136,CR600372,CR606274,CR616010,CR625386,CR625491,CR625532,DB192394,DQ884408,X74607,X92762,DQ173599,DQ173600,DQ173601,DQ173602,DQ173603,DQ173604,DQ173605,DQ173606,DQ173607,DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,DQ173613,DQ173614,DQ173615,DQ173616,DQ173617,DQ173598,NR_024048,NM_000116,NM_181312,NM_181311,NM_181313,NG_009634,BX936347,CH471172,DQ173574,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173597,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173631,DQ173632,DQ173633,DQ173634,DQ173635,DQ173636,DQ173637,DQ173638,DQ173639,DQ173640,DQ173618 ABC25970,ABC25975,ABC25980,CAA63419,BAF84537,AAO84335,AAO84336,AAO84337,AAO84338,AAO84339,AAO84340,AAO84341,AAO84342,AAH11515,ABI63375,CAA63418,Q16635,Q2VF39,Q5HY46,Q96F92,CAL37875,CAL38083,ABC25760,ABC25765,ABC25770,ABC25775,ABC25780,ABC25785,ABC25790,ABC25795,ABC25800,ABC25805,ABC25810,ABC25815,ABC25820,ABC25825,ABC25830,ABC25835,ABC25840,ABC25845,ABC25850,ABC25855,NP_000107,NP_851829,NP_851828,NP_851830,CAI43206,CAI43207,CAI43208,CAI43209,CAI43210,CAI43211,EAW72717,EAW72718,EAW72719,EAW72720,EAW72721,EAW72722,EAW72723,EAW72724,EAW72725,EAW72726,EAW72727,EAW72728,EAW72729,EAW72730,ABB72780,ABC25731,ABC25736,ABC25741,ABC25746,ABC25751,ABC25756,ABC25860,ABC25865,ABC25870,ABC25875,ABC25880,ABC25885,ABC25890,ABC25895,ABC25900,ABC25905,ABC25910,ABC25915,ABC25920,ABC25925,ABC25930,ABC25935,ABC25940,ABC25945,ABC25950,ABC25955,ABC25960,ABC25965 Hs.409911 BTHS|CMD3A|EFE|EFE2|FLJ27390|G4.5|LVNCX|Taz1|XAP-2 OTTHUMP00000198778|OTTHUMP00000207081|protein G4.5|tafazzin protein-coding 1349688 TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM] 19115052,19077034,18325908,17274760,16893906,16303743,15489334,15324660,15231748,14702039,12477932,12168954,15592455,10965142,10470851,19913121,20628086,20379614 23216 NM_015173,AC021106,AC098680,AC108933,AB029031,AB449881,AK027355,AK057182,AK074954,AK295746,AK303574,BC014529,BC028196,BC029950,BC032337,BC050321,BC053648,BC126979,CR593051,CR609093,CR618032 NP_055988,BAA83060,BAH16624,BAB55057,BAG51876,BAC11312,BAH12175,BAG64594,AAH14529,AAH50321,AAH53648,AAI26980,Q6PJJ8,Q7Z6H2,Q86TI0,Q8NC59 Hs.176503 KIAA1108|TBC|TBC1 OTTHUMP00000196994|OTTHUMP00000218150|TBC1 domain family member 1 protein-coding 1605322 TBC1D10A TBC1 domain family, member 10A 11285285,18029348,19077034,18450757,17145964,15998911,15790807,15461802,14702039,12477932,10591208,9847074,16923811,20360009 83874 AC004997,CH471095,CQ783540,AB449894,AF331038,AK074656,AK093231,AK127939,NM_031937,AK309455,BC022201,BC136815,BC142940,BC150187,BC150214,BC171775,CR590088,CR590734,CR592975,CR594046,CR599097,CR602944,CR603728,CR610270,CR610602,CR611776,CR614592,CR619522,CR621862,CR626545,CT841514,AK131086 NP_114143,AAC23432,AAC23433,AAC23434,EAW59871,EAW59872,EAW59873,EAW59874,EAW59875,EAW59876,EAW59877,CAF86715,BAH16637,AAK35048,BAC11117,BAG52675,BAG54600,BAC85136,AAI36816,AAI42941,AAI50188,AAI50215,AAI71775,CAJ86444,Q20WK7,Q6ZNK8,Q9BXI6,AAI43052,AAI43053 Hs.655273 EPI64|TBC1D10|dJ130H16.1|dJ130H16.2 EBP50-PDX interactor of 64 kDa|EBP50-PDZ interactor of 64 kD|H_DJ130H16.1a|H_DJ130H16.1b|OTTHUMP00000198731|OTTHUMP00000198732|OTTHUMP00000198733|OTTHUMP00000198735|OTTHUMP00000198736|OTTHUMP00000198738|OTTHUMP00000198739|TBC1 domain family member 10A|WUGSC:H_DJ130H16.1a|WUGSC:H_DJ130H16.1b protein-coding 1607066 TBC1D10B TBC1 domain family, member 10B 19077034,16368877,15302935,14702039,12477932,9110174,8619474 26000 NM_015527,AC106782,CH471192,AB449895,AF370370,AI672923,AK002101,AK023192,AL117408,AY007150,BC028737,BC038994,BC050523,BC063112,BC072453,BC093814,BC093816,BC098419,BY795947,CR594390 NP_056342,EAW52256,EAW52257,EAW52258,BAH16638,AAQ15206,BAA92086,BAB14454,CAB55908,AAH50523,AAH63112,AAH72453,AAH93814,AAH93816,AAH98419,Q4KMP7,ABZ92318 Hs.632182 DKFZp434P1750|FP2461 TBC1 domain family member 10B protein-coding 1606878 TBC1D10C TBC1 domain family, member 10C Carabin is an endogenous inhibitor of calcineurin (see MIM 114105) that also inhibits the Ras (see MIM 190020) signaling pathway through its intrinsic Ras GTPase-activating protein activity (Pan et al., 2007 [PubMed 17230191]).[supplied by OMIM] 17230191,12477932,19913121,20628086 374403 BC035630,BC036873,BC047319,BC062999,CR610401,BC022202,NM_198517,AP003419,CH471076,AK122585,HI574212 AAH36873,AAH62999,Q86YV2,Q8IV04,NP_940919,EAW74611,EAW74612,EAW74613,EAW74614,EAW74615,BAC56926,CBX47595 Hs.534648 CARABIN|FLJ00332|MGC46488 carabin protein-coding 1343312 TBC1D12 TBC1 domain family, member 12 1580863 16344560,15164054,14702039,12477932,9628581,19077034 23232 NM_015188,AL138759,AL355341,CH471066,AB011180,AB449898,AJ404330,AK090865,AL049956,BC064323,DA808973 NP_056003,CAH70223,CAH70583,EAW50040,BAA25534,BAH16641,CAB43225,O60347 Hs.500598 FLJ10339|FLJ12820|KIAA0608 TBC1 domain family member 12 protein-coding 1318412 TBC1D13 TBC1 domain family, member 13 737633 19077034,14702039,12477932 737633 54662 NM_018201,AL441992,CH471090,AB209565,AB449899,AK001605,AK027457,AK123828,AK289777,AK295183,AK307556,BC014898,BC132817,BC136509,BC150311,DC325060 NP_060671,CAI15410,CAI15411,EAW87832,EAW87833,EAW87834,EAW87835,EAW87836,BAD92802,BAH16642,BAA91784,BAG51325,BAG53966,BAF82466,BAG58188,AAI32818,AAI36510,AAI50312,Q59F95,Q9NVG8,AAI40081,AAI43011,ADR83162 Hs.3376 FLJ10743|RP11-545E17.5 TBC1 domain family member 13 protein-coding 1320638 TBC1D14 TBC1 domain family, member 14 737633,1580863 19077034,18186464,16344560,15489334,14702039,12477932,10718198,20379614 737633 57533 NM_001113361,NM_020773,NM_001113363,AC092463,AC097382,AC106045,CH471131,AA724344,AB037743,AB449900,AK056962,AK295068,AL833868,BC024966,BC041167,BQ230652,DA317176,DA492919,DA754761 NP_001106832,NP_065824,NP_001106834,EAW82375,EAW82376,EAW82377,BAA92560,BAH16643,BAG58115,CAD38726,AAH41167,Q9P2M4 Hs.518611 FLJ32400|KIAA1322 OTTHUMP00000201962|OTTHUMP00000201965|TBC1 domain family member 14 protein-coding 1317393 TBC1D15 TBC1 domain family, member 15 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq] 737633,1580863 17643375,20363736,19077034,17081983,16964243,16923123,16344560,16055087,15592455,15489334,14702039,12477932,9373149,8125298,20562859 737633 64786 NM_022771,NM_001146213,NM_001146214,NR_027449,AC089984,AC090109,CH471054,AB449901,AI590346,AK022147,AK225221,AK225747,AK292306,AK090510,AK297626,AK307922,AL157464,AL833639,BC028352,DA438409 NP_073608,NP_001139685,NP_001139686,EAW97273,EAW97274,EAW97275,EAW97276,BAH16644,BAB13971,BAF84995,BAG60001,CAB75666,AAH28352,Q8TC07,Q9NSR4 Hs.284630 DKFZp686M1379|DKFZp761D0223|FLJ12085|FLJ33191|RAB7-GAP GAP for RAB7|GTPase-activating protein RAB7|OTTHUMP00000213053|TBC1 domain family member 15|Tre-2-budding uninhibited by benzimidazole-cell division cycle 16 domain, domain family member 15|Tre2/Bub2/Cdc16 domain family member 15 protein-coding 1345819 TBC1D16 TBC1 domain family, member 16 737633,1580863 21129771,19077034,15489334,14702039,12477932 737633 125058 NM_019020,AC100791,AC116025,CH471099,AB449902,AK000755,AK091923,AK097283,AL157485,AL512709,BC001525,BC028290,BC036947 Q8TBP0,Q96DH7,NP_061893,EAW89574,EAW89575,EAW89576,EAW89577,BAH16645,BAA91361,AAH01525,AAH28290,AAH36947,Q8N3Z4,Q9NWL9 Hs.369819 FLJ20748|MGC25062 TBC1 domain family member 16 protein-coding 1320164 TBC1D17 TBC1 domain family, member 17 737633,1580863 19077034,16189514,15489334,14702039,12477932,12031486,16169070 737633 79735 AC118341,AC118342,AF293463,CH471177,CQ871302,AB449903,AK022230,AK090606,AK092924,AK300007,AK309412,AY129013,BC003516,CR596468,NM_024682,CR616225,CR598900,CR606871,CR609726,CR613490,AI805386,AI927008,NM_001168222 NP_078958,AAK73364,EAW52572,CAH56832,BAH16646,BAB13991,BAG61824,AAM98756,AAH03516,Q6YL46,Q96RQ7,Q9HA65,NP_001161694 Hs.631587 FLJ12168 TBC1 domain family member 17 protein-coding 1343247 TBC1D19 TBC1 domain family, member 19 1580863 19077034,15592455,15489334,14702039,12477932,9373149,8125298 55296 NM_018317,AC093807,AC107390,CH471069,AB449905,AF075043,AI034462,AK001944,AK225395,AK289631,AK310795,BC031642,DC299740 NP_060787,EAW92851,EAW92852,BAH16648,BAA91992,BAF82320,AAH31642,Q8N5T2 Hs.479403 FLJ11082 OTTHUMP00000218002|TBC1 domain family member 19 protein-coding 1315719 TBC1D2 TBC1 domain family, member 2 1580863 19077034,17081983,15302935,12477932,11785977,18029348,20944657,20583170 55357 AK298575,AL353935,AY026527,BC028918,BC071978,BX091503,NM_018421,AL137073,AL360081,AL591502,CH471105,AB209721,AB449882,AF318370,AK026105,AK124772,AK131290 BAG60767,CAB89247,AAK07684,AAH28918,AAH71978,Q9BYX2,ABM82231,ABM85416,NP_060891,CAI13883,CAI13884,CAI13885,CAI13894,CAH71884,CAH71886,CAH71887,CAI12579,CAI12580,EAW58882,EAW58883,EAW58884,EAW58885,EAW58886,EAW58887,EAW58888,BAD92958,BAH16625,AAL55877,BAB15361,BAG54093,BAG54761 Hs.371016 DKFZp761D1823|FLJ10702|FLJ16244|FLJ42782|PARIS-1|PARIS1|TBC1D2A OTTHUMP00000021772|OTTHUMP00000021774|TBC1 domain family member 2A|TBC1 domain family, member 2A|armus|prostate antigen recognized and identified by SEREX 1 protein-coding 1346411 TBC1D20 TBC1 domain family, member 20 19077034,17901050,17686842,16344560,15489334,14702039,12477932,11780052 128637 NM_144628,AL049761,AL121747,CH471133,AB449906,AF116909,AK055573,AK092063,AK095110,AK127062,AK291648,BC014648,BC014983,BC047616,BX647370,CR611379,CR622506,DA230581,DA311494 NP_653229,CAI23048,CAI23015,EAX10670,EAX10671,EAX10672,BAH16649,AAD29636,BAC86808,BAF84337,AAH14983,Q96BZ9,Q9Y2V8 Hs.590876 C20orf140|FLJ45119 TBC1 domain family member 20 protein-coding 1353455 TBC1D21 TBC1 domain family, member 21 1580863 19077034,15489334,12477932 161514 HC007320,HC044845,NM_153356,AC018943,AC108137,CH471082,AB449907,BC033516 CBH19465,CBH30752,NP_699187,EAW77936,EAW77937,BAH16650,AAH33516,Q8IYX1 Hs.124512 MGC34741 TBC1 domain family member 21 protein-coding 1602007 TBC1D22A TBC1 domain family, member 22A 20379614,18029348,19077034,18186464,15489334,15461802,14702039,12529303,12477932,10591208,16344560 25771 NM_014346,AL023576,AL023733,AL078642,AL096755,AL118516,CH471138,U51561,Z79999,Z80896,Z82187,AB449908,AK000851,AK055591,AK125705,AK127653,AK301445,AK308039,AK315779,AL096779,BC001292,BC002743,BC020976,BC029897,CR456412,CR590373,CR590637,CR593690,CR593777,CR597368,CR607393,CR621287,DA990679,DB339610,U51559 NP_055161,CAI18761,CAQ11023,CAQ11024,CAQ11025,CAI21503,CAI17954,EAW73443,EAW73444,EAW73445,AAD12228,CAI23583,CAI22357,CAI23588,CAQ09530,CAQ09531,CAQ09532,BAH16651,BAG51541,BAC86253,BAG54543,BAG62971,BAG38127,CAB46628,AAH01292,AAH02743,AAH20976,AAH29897,CAG30298,Q8WUA7,CAK54403,CAK54702 Hs.435044 C22orf4|HSC79E021 OTTHUMP00000197267|TBC1 domain family member 22A|putative GTPase activator protein-coding 1353872 TBC1D22B TBC1 domain family, member 22B 19077034,15998911,15790807,15489334,14702039,14574404,12477932,20379614 55633 AL096712,AL353579,AL589667,CH471081,AB449909,AK000344,AK096340,AK292893,AY313781,AY927466,AY927467,NM_017772,BC000291,BC000743,BC001927,BC002720,BC047658,BC063523,BC109026,BC109027,BX648317,CR749710 NP_060242,CAI22620,CAI20318,CAH71194,EAX03939,EAX03940,EAX03941,EAX03942,BAH16652,BAA91099,BAF85582,AAQ72548,AAH00291,AAH00743,AAH01927,AAH02720,AAH63523,AAI09027,AAI09028,CAH18482,Q68CV2,Q6P4C3,Q9NU19 Hs.485270 C6orf197|DKFZp762J0110|FLJ20337|MGC125626|MGC125627|RP4-744I24.2|dJ744I24.2 TBC1 domain family member 22B protein-coding 1601860 TBC1D23 TBC1 domain family, member 23 19077034,14702039,12477932 55773 NM_018309,AC078783,AC093003,CH471052,AB449910,AK001750,AK001908,AK092926,AL713684,AY740521,BC010221,BC020955,BX648032,DB458401,NM_001199198 NP_060779,EAW79826,EAW79827,BAH16653,BAA91881,BAA91973,BAG52630,CAD28488,AAW66944,AAH10221,AAH20955,Q9NUY8,NP_001186127 Hs.477003 DKFZp667G062|FLJ11046|NS4ATP1 HCV non-structural protein 4A-transactivated protein 1|HCV nonstructural protein 4A-transactivated protein 1|OTTHUMP00000213992|TBC1 domain family member 23 protein-coding 1606524 TBC1D24 TBC1 domain family, member 24 20727515,20797691,19077034,12477932,10574461 57465 NM_020705,AC093525,AC106820,AB032997,AB449911,AK074509,BC112389,BC127014,BC127015,BX648283,CH471112,AI685478,NM_001199107 NP_065756,BAA86485,BAH16654,AAI12390,AAI27015,AAI27016,Q9ULP9,EAW85503,NP_001186036 Hs.353087 FIME|KIAA1171|MGC102885 TBC1 domain family member 24 protein-coding 1351229 TBC1D25 TBC1 domain family, member 25 This gene encodes a protein with a TBC domain and may function as a Rab GTPase activating protein. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq] 19077034,16344560,12618308,12477932,8314581,16484223 4943 NM_002536,AC115618,AF196969,CH471224,AB449912,AK293521,AK293875,AK297924,AK298884,AK294776,AK299561,AK316199,BC026050,BC036942,BC041614,BC052609,BC064334,BC082255,BC101817,BC101819,BC125088,BC125089,BC143395,BG328213,BI088539,CA447032,CR592577,DA087200,L08240 NP_002527,EAW50769,EAW50770,EAW50771,EAW50772,BAH16655,BAG57003,BAG57904,BAG60241,BAG57264,BAG60997,BAG61504,BAH14570,AAH26050,AAI01818,AAI01820,AAI25089,AAA59593,Q14830,Q3MII6 Hs.694353 MG81|MGC126866|MGC126868|MGC149731|MGC149732|OATL1 OTTHUMP00000070507|TBC1 domain family member 25|ornithine aminotransferase-like 1 protein-coding 1604696 TBC1D26 TBC1 domain family, member 26 19077034,16344560,12477932,11347906 353149 NM_178571,AC005324,CH878279,AB058777,AB449913,AI631546,AK315847,BC028414,BC047400,DB067071,EG328144 NP_848666,EAW50388,EAW50389,EAW50390,BAH16656,BAF98738,AAH28414,AAH47400,Q86UD7 Hs.567880 MGC51025 OTTHUMP00000065211|TBC1 domain family member 26 protein-coding 2292086 TBC1D27 TBC1 domain family, member 27 14702039,12477932,19773279,20379614 96597 AC022596,AL353996,AK024458,BC128223,XM_002343481,XM_002345003,XM_002347724 BAB15748,Q9H7M0,XP_002343522,XP_002345044,XP_002347765 Hs.193857 TBC1 domain family, member 27 protein-coding 2289741 TBC1D28 TBC1 domain family, member 28 16344560,14702039,12477932 254272 NM_001039397,AC026271,AC105100,AK097563,AK292544,BC112012,BC112016,DB065322,AL137747 NP_001034486,BAF85233,AAI12013,AAI12017,Q2M2D7 Hs.434123,Hs.567880 FLJ40244|MGC138217|MGC138221 OTTHUMP00000065077|TBC1 domain family member 28 protein-coding 1607053 TBC1D29 TBC1 domain family, member 29 12618308,12477932 26083 BC096718,BC098126,BC098273,NM_015594,AC011840,CH471159,AL117394 CAB55896,AAH96718,AAH98126,Q4V771,Q9UFV1,NP_056409,EAW51237,EAW51238 Hs.241421 DKFZp434O047 putative TBC1 domain family member 29 protein-coding 1604393 TBC1D2B TBC1 domain family, member 2B 20379614,20562859,12477932,10470851 23102 NM_015079,NM_144572,AC090260,AC104758,CH471136,AB028978,AI432924,AK000173,AK074871,AL080229,AL109773,AL137303,AW135485,BC015718,BC033712,BC140766,BC144482,BC152465,BE387538,CR590128 NP_055894,NP_653173,EAW99188,EAW99189,EAW99190,BAA83007,BAA90990,CAH10708,AAH33712,AAI40767,AAI44483,AAI52466,Q69YW7,Q9UPU7 Hs.567426 FLJ20166|KIAA1055 OTTHUMP00000202619|TBC1 domain family member 2B protein-coding 1604121 TBC1D3 TBC1 domain family, member 3 19718026,18319245,16863688,16625196,12612085,12604796,12359748,11230166,8471161,8406013 729873 AK302064,AK303259,AK313329,BC047739,NM_001123391,AC183087,AC233700 BAG63454,BAG64341,BAG36134,NP_001116863 Hs.454716 FLJ56187|FLJ57364|FLJ58835|FLJ60943|FLJ77836|FLJ93850|PRC17|TBC1D3A|TBC1D3F Rab GTPase-activating protein PRC17|TBC1 domain family, member 3|TBC1 domain family, member 3F|prostate cancer gene 17 protein-coding 2291766 TBC1D30 TBC1 domain family, member 30 19077034,14702039,10231032,12618308,8889548,20125193 23329 XM_037557,XM_001716833,XM_939476,AC025262,AC078815,AB023201,AB449914,AK055404,AK299508,AL050074,BM678817,DC377016,NM_015279,XM_003118948,XM_003118949,XM_003118950,XM_003118951,XM_003119536,XM_003119537,XM_003119538,XM_003119539,XM_003120745,XM_003120746,XM_003120747,XM_003120748 XP_037557,XP_001716885,XP_944569,BAA76828,BAH16657,BAG51513,BAG61461,Q9Y2I9,NP_056094,XP_003118996,XP_003118997,XP_003118998,XP_003118999,XP_003119584,XP_003119585,XP_003119586,XP_003119587,XP_003120793,XP_003120794,XP_003120795,XP_003120796 Hs.192492 KIAA0984 TBC1 domain family member 30 protein-coding 1605183 TBC1D3B TBC1 domain family, member 3B This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq] 16863688,16625196,14702039,12477932 414059 NM_001001417,NG_004113,AC003976,AC139367,AA760944,AF540953,AK292257,BI828386,BI832051,BM563571 NP_001001417,AAN33117,BAF84946,A6NDS4,AAI66651 Hs.454713,Hs.454716,Hs.677656 FLJ78399|PRC17|TBC1D3I Rab GTPase-activating protein PRC17 duplicate|TBC1 domain family member 3B/I|TBC1 domain family, member 3I|prostate cancer gene 17 duplicate protein-coding 1605182 TBC1D3C TBC1 domain family, member 3C This gene represents one of atleast 8 paralogs of TBC1D3 gene found on chromosome 17. These paralogs appear to be differentially expressed in human tissues. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. [provided by RefSeq] 16863688,12604796,12477932,8889549,12359748 414060 AC233699,NM_001001418,NG_004113,AC131056,AA045947,AK292308,AK301823,BC033670,BC071680,BI827136,BX280919,BX346181 NP_001001418,BAF84997,BAG63269,AAH71680,Q6IPX1,A6NI40 Hs.454716,Hs.105891 FLJ78248|MGC44903|TBC1D3D OTTHUMP00000163613|Rab GTPase-activating protein PRC17|TBC1 domain family member 3C-like protein ENSP00000341742|TBC1 domain family member 3C/3D|telomeric TBC1 domain family member 3-like protein-coding 1605746 TBC1D3D TBC1 domain family, member 3D 16863688,16625196,12604796,12359748,11230166,8471161,8406013 727735 NM_001123390,AC021317,AC183087 NP_001116862,P0C7X1 Hs.105891 PRC17|TBC1D3|TBC1D3A|TBC1D3H protein-coding 1604120 TBC1D3E TBC1 domain family, member 3E 16863688 729877 NM_001123392,AC027821,AC126327 NP_001116864,A6NER0 Hs.105891 protein-coding 1345800 TBC1D3F TBC1 domain family, member 3F 1580863 20936779,19077034,16863688,16625196,16381901,15489336,14702039,12477932,12359748,11230166,11076863,8471161,8406013,12612085 84218 NM_032258,AC021317,AC183087,AB449884,AK095385,AK122833,AL136860,BC078140,AC233700 NP_115634,BAH16627,BAG53037,BAG53751,CAB66794,AAH78140,Q6DCB4,Q8IZP1,CAL37674,CAL38609,AAI46681 Hs.449880,Hs.454716 FLJ56187|FLJ58835|TBC1D3 OTTHUMP00000216311|TBC1 domain family member 3|TBC1 domain family, member 3|TRE17 alpha protein|prostate cancer gene 17 protein|protein TRE17-alpha protein-coding 1605745 TBC1D3G TBC1 domain family, member 3G 16863688,12477932,9373149,8125298 654341 NM_001040282,AC126327,AK225985,AK292344,BC075809,DC397874 NP_001035372,BAF85033,AAH75809,Q6DHY5 Hs.617010,Hs.454716 OTTHUMP00000163563|TBC1 domain family member 3G protein-coding 1604122 TBC1D3H TBC1 domain family, member 3H 16863688,16625196 729837 XM_001134128,XM_001134131,NM_001159332,AC126327 XP_001134128,XP_001134131,NP_001152804,A6NH17 Hs.569742 protein-coding 1602782 TBC1D3I TBC1 domain family, member 3I 643947 XM_001713609,AC139367 XP_001713661,A6NDS4 protein-coding 1606373 TBC1D3P1 TBC1 domain family, member 3 pseudogene 1 400609 NG_005461,AC005702 pseudo 1604135 TBC1D3P2 TBC1 domain family, member 3 pseudogene 2 12477932 440452 NR_027486,AC053481,AK301746,BC058890,EG327356 BAG63208 Hs.448884 pseudo 1345136 TBC1D4 TBC1 domain family, member 4 2302393,2302395,2302397,2306494,1580863 19470471,19077034,18845784,18771725,18276765,17977950,17617058,17513702,17369524,17081983,17077344,16964243,16083285,15971998,15919790,15324660,15304337,15302935,15057823,12601173,12421765,11994271,11829485,9628581,17353931,20937822,19252894,19923418,20379614,20445134 2302393,2302395,2302397,2306494 9882 NM_014832,AL139230,AL162571,CH471093,AB011175,AB449885,AK300468,AK304091,AK307493,AY211910,BC151239,CR749622,FM207106,FM207107 NP_055647,CAH70991,CAI39591,CAI39592,EAW80536,EAW80537,EAW80538,BAA25529,BAH16628,BAG62187,BAG64997,AAI51240,CAH18416,CAR62509,CAR62510,O60343,AAI46301 Hs.210891 AS160|DKFZp779C0666 Acrg embryonic lethality minimal region ortholog|TBC (Tre-2, BUB2, CDC16) domain-containing protein|TBC1 domain family member 4|akt substrate of 160 kDa protein-coding 1321047 TBC1D5 TBC1 domain family, member 5 1580863 19531583,20379614,16713569,19077034,16344560,16189514,15489334,15144186,14702039,12477932,9039502,8889548 9779 NM_014744,NM_001134380,NM_001134381,AC090644,AC090960,AC104451,AC140076,AC144531,CH471055,AB449886,AK097990,AK309374,AK310539,BC013145,BM976960,CR619208,D86965,DA111826 NP_055559,NP_001127852,NP_001127853,EAW64284,EAW64285,EAW64286,EAW64287,EAW64288,BAH16629,AAH13145,BAA13201,Q92609 Hs.594225,Hs.475629 KIAA0210 OTTHUMP00000208066|OTTHUMP00000208069|TBC1 domain family member 5 protein-coding 1316981 TBC1D7 TBC1 domain family, member 7 TBC1D7 belongs to the family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (Nakashima et al., 2007 [PubMed 17658474]).[supplied by OMIM] 737633,1580863 19077034,17658474,16344560,15489334,14702039,12477932,11042152,9373149,8125298,20095038,20098747,20562859,15342556,17207965 737633 51256 BG504676,BI914228,BP319580,CF528834,DB079098,NM_001143964,NM_001143965,NM_001143966,AL008729,AL589984,CH471087,AB449888,AF151073,AK057228,AK223445,AK296391,AL833474,AY542308,NM_016495,AY826820,BC007054,BC050465,CR607687,CR614229,CR616365,CR626678,DA169008 NP_057579,NP_001137436,NP_001137437,NP_001137438,CAI21569,CAI21570,CAI21571,CAI21572,CAI21573,CAI21574,CAI21575,CAI21576,EAW55323,EAW55324,EAW55325,EAW55326,EAW55327,BAH16631,AAF36159,BAB71389,BAD97165,BAG59059,CAI46116,AAT08177,AAX18640,AAH07054,AAH50465,Q2TU37,Q53F44,Q5JPB9,Q5SZL3,Q5SZL4,Q5SZL5,Q5SZL6,Q5SZL8,Q5SZM1,Q5SZM2,Q86VM8,Q96MB8,Q9P0N9,ADQ33066 Hs.484678 DKFZp686N2317|FLJ32666|PIG51|TBC7|dJ257A7.3 OTTHUMP00000016048|OTTHUMP00000043406|OTTHUMP00000043407|OTTHUMP00000043408|OTTHUMP00000043409|TBC1 domain family member 7|cell migration-inducing protein 23 protein-coding 1347118 TBC1D8 TBC1 domain family, member 8 (with GRAM domain) 1580863 10373574,19077034,17686842,16344560,15851553,14702039,12023963,10737800,20548944 11138 BQ673509,CA429937,CD722231,DB079019,DB201187,DC383710,DC415735,DR001338,AC013722,AC016738,NM_001102426,CH471127,AB017114,AB449889,AK000748,AK098124,AK292826,AK300533,AL134328,BE842460 O95759,AAI72297,NP_001095896,AAY14824,EAX01823,EAX01824,EAX01825,BAA76517,BAH16632,BAF85515,BAH13300 Hs.442657 AD3|HBLP1|TBC1D8A|VRP AD 3|BUB2-like protein 1|OTTHUMP00000202974|TBC1 domain family member 8|TBC1 domain family, member 8A|vascular Rab-GAP/TBC-containing protein protein-coding 1606538 TBC1D8B TBC1 domain family, member 8B (with GRAM domain) 19077034,14702039,12477932,9373149,8889548,8125298 54885 NM_198881,AL391315,AL591849,CH471120,AB449890,AB449891,AK000305,AK091248,AK123957,AK225310,BC017978,BC122564,NM_017752,BQ014086,BX648230,CA941751,CB243872,NG_021284,U96192 NP_060222,NP_942582,CAI39548,CAI39549,CAI40161,EAX02734,EAX02735,EAX02736,BAH16633,BAH16634,BAA91071,BAC03620,BAC85735,Q0IIM8,Q5JSK2,Q8N250,AAI22565 Hs.351798 FLJ20298|RP11-321G1.1 OTTHUMP00000217630|RP11-321G1.1|TBC1 domain family member 8B protein-coding 1604383 TBC1D9 TBC1 domain family, member 9 (with GRAM domain) 19077034,18228020,16355344,15302935,15146197,12970790,12477932,10737800,10048485,9110174,8619474,20379614 23158 NM_015130,AC096733,AC108019,CH471056,AB020689,AB449892,AF131785,AI439646,AK127020,BC038804,BC146758,BQ308276,CN332501,CN332502 NP_055945,EAX05092,EAX05093,EAX05094,BAA74905,BAH16635,BAC86789,AAI46759,Q6ZT07 Hs.480819 KIAA0882|MDR1 TBC1 domain family member 9|TBC1 domain family member 9A protein-coding 1604633 TBC1D9B TBC1 domain family, member 9B (with GRAM domain) 19077034,16303743,14702039,12477932,9734811,9373149,8125298 23061 AK223509,AK304757,BC000701,BC008919,BC031697,BC080659,BC110400,BC129994,BM459848,BU183640,BX641107,CR599645,NM_198868,AC008393,AC010285,CH471165,AB014576,AB449893,AK001196,AK001473,AK026096,AK074791,AK123874,NM_015043 BAD97229,BAG65512,AAH00701,AAH08919,AAH80659,AAI29995,CAE46050,Q66K14,Q9BW24,NP_055858,NP_942568,EAW53777,EAW53778,EAW53779,EAW53780,EAW53781,EAW53782,BAA31651,BAH16636,BAG50866,BAG50919,BAG52002,BAG53977 Hs.155829 FLJ41880|KIAA0676|MGC157757 TBC1 domain family member 9B protein-coding 1323048 TBCA tubulin folding cofactor A The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. [provided by RefSeq] 1298632,1580863 8706133,16130169,15963512,15489334,12477932,12054808,11042152,9653160,8567715,20201926,20379614,20950786 1298632 6902 NM_004607,AC026717,AC035147,CH471084,AF038952,AK300031,AK312207,BC018210,BC067837,BC105285,BT007354,CR542170,CR542186,DB538817,DW436723 NP_004598,EAW95810,AAC39866,BAG61842,BAG35140,AAH18210,AAI05286,AAP36018,CAG46967,CAG46983,O75347,Q6FGD7 Hs.291212 CFA|TCP1-chaperonin cofactor A|chaperonin cofactor A|tubulin-folding cofactor A|tubulin-specific chaperone A protein-coding 1320593 TBCB tubulin folding cofactor B 1580863 19913121,20628086,16303566,16713569,19168853,19165527,19038251,18048340,15831477,15592455,15489334,15057824,12477932,9265649,8978780,8978778 1155 NM_001281,AD001527,AF013488,AI126083,AL555345,BC005969,BC052812,BT007424,CR541971,CR597420,CR602595,CR607995,CR613574,D49738 NP_001272,AAB51182,AAB67716,AAH05969,AAH52812,AAP36092,CAG46769,BAA08572,Q6FGY5,Q99426,ABM83826,ABM87149 Hs.31053 CG22|CKAP1|CKAPI|MGC14625 cytoskeleton associated protein 1|cytoskeleton-associated protein 1|cytoskeleton-associated protein CKAPI|tubulin-folding cofactor B|tubulin-specific chaperone B protein-coding 1315555 TBCC tubulin folding cofactor C Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq] 1580863 8706133,15489334,14574404,12477932,11847227,8567715,20384997,12417528 6903 AL353716,CH471081,AK312681,BC017479,BC020170,BE795945,BT007002,CR590261,CR590736,CR591267,CR594940,CR602269,CR604530,CR609978,CR623339,U61234,NM_003192 NP_003183,CAI14818,EAX04100,BAG35561,AAH17479,AAH20170,AAP35648,AAB17539,Q15814 Hs.75064 CFC OTTHUMP00000016406|tubulin-folding cofactor C|tubulin-specific chaperone C protein-coding 1605661 TBCCD1 TBCC domain containing 1 16344560,14702039,12477932,19913121,20628086 55171 NM_001134415,NM_018138,AC068631,CH471052,AK001422,AK124362,BC025748,CA428099,DB023715,DB033833 NP_001127887,NP_060608,EAW78191,EAW78192,EAW78193,BAA91682,BAG54031,AAH25748,Q9NVR7,ACT64550,ACT64551 Hs.518469 FLJ10560 OTTHUMP00000210168|TBCC domain-containing protein 1 protein-coding 1317676 TBCD tubulin folding cofactor D Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq] 11847227,19724895,19851296,20198315,20740604,8706133,18171676,17704193,15489334,15231748,14702039,12912990,12477932,12107410,11110777,10831612,10722852,10231032,9265649,9110174,8619474,8567715,16169070 6904 NM_005993,NG_011721,AC024361,AC068014,AC068584,CH471099,AA421669,AB023205,AF052173,AF193042,AJ006417,AK057975,AK091959,AC130371,AK129619,AK293471,AL096745,AL133562,BC003094,BC006364,BC012824,BC024167,BC039654,BC150142,BI464569,CA390153,CR593345,CR607508,AC087222,BG254219 AAH06364,NP_005984,EAW89821,EAW89822,EAW89823,BAA76832,AAG22470,CAA07022,BAC03777,BAC85197,BAG56964,CAB62532,CAB63716,AAH03094,AAH12824,AAH39654,Q6ZPB7,Q9BTW9,ABM82811,ABW03451 Hs.728173 KIAA0988 SSD-1|beta-tubulin cofactor D|tfcD|tubulin-folding cofactor D|tubulin-specific chaperone D protein-coding 1313614 TBCE tubulin folding cofactor E Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1599303,1580863 19557161,20103624,20201926,20379614,18029348,8706133,19491227,19297412,19168853,18262179,17184771,17008776,16710414,16344560,15489334,14702039,12665801,12477932,12446740,12389029,12389028,9891010,9806825,9634513,9265649,8567715,11847227 1599303 6905 NM_003193,NG_009230,AL357556,AL672237,CH471098,AK093397,AK292287,AK296185,AK298050,BC008654,BT007086,CR599260,CR612606,DA418943,DA981183,U61232,NM_001079515 NP_001072983,NP_003184,CAI15017,CAH72080,EAW70021,EAW70022,EAW70023,EAW70024,EAW70025,BAF84976,BAH12277,BAH12714,AAH08654,AAP35749,AAB17538,Q15813 Hs.727621 HRD|KCS|KCS1|pac2 tubulin-folding cofactor E|tubulin-specific chaperone E|tubulin-specific chaperone e protein-coding 1606678 TBCEL tubulin folding cofactor E-like 18262179,15728251,14702039,12477932,20379614 219899 NM_152715,NM_001130047,AP000646,AP001929,CH471065,AI128257,AK024239,AK295673,AK313324,AY398644,BC020501,BC120988,BC120989,BX091943,CR616944,DB481993,DN602255 NP_689928,NP_001123519,EAW67513,EAW67514,EAW67515,BAG51278,BAG58531,BAG36129,AAR27875,AAI20989,AAI20990,Q0VAN5,Q5QJ74 Hs.504136 El|FLJ14177|LRRC35|MGC10233 E-like|catastrophin|leucine rich repeat containing 35|leucine-rich repeat-containing protein 35|tubulin-specific chaperone cofactor E-like protein|tubulin-specific chaperone e-like protein-coding 1606987 TBCK TBC1 domain containing kinase 9847074,20332099,12477932,12471243,19077034,16344560,15815621,15489334,14702039 93627 NM_001163435,NM_001163436,NM_001163437,AC093680,AC107381,AC109361,AC114734,AC125469,AP001820,CH471057,AB449876,AF161420,NM_033115,AI808636,AK074305,AK098157,AK315571,BC009208,BC020853,BC068496,BX647851,CR608976,DA100605,DB223368,DB228807 AAF28980,NP_149106,NP_001156907,NP_001156908,NP_001156909,AAY40979,AAY41041,EAX06198,EAX06199,EAX06200,EAX06201,EAX06202,BAH16619,BAB85045,BAC05244,AAH09208,AAH20853,AAH68496,CAI46102,Q5HYF5,Q8TEA7,ABM84205,ABM87609 Hs.292986 HSPC302|MGC16169|TBCKL OTTHUMP00000161871|TBC domain-containing protein kinase-like protein protein-coding 1313752 TBK1 TANK-binding kinase 1 The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. For example, the protein can form a complex with the IKB protein TANK and TRAF2 and release the NFKB inhibition caused by TANK. [provided by RefSeq] 16887178,12761501,12692549,19380831,19307177,19153231,19017982,18977754,18614628,18583960,18508731,18353649,18307994,17823124,17568778,17526488,17327220,17018283,16973572,16888014,16537515,16394098,16380379,16281057,16223731,16155125,16153868,15841462,15695821,15619605,15489334,16344560,19160540,15489227,15485837,15367631,14743216,14702039,14560022,14530355,12702806,12568715,12477932,12133833,11839743,10990461,10783893,10581243,9721103,8601309,7706279,17991829,18636086,15276183,15556946,19615732,19847166,19955181,19958770,20304918,20331378,16914100,21048031,20098747,20562859,20588308 29110 NM_013254,AC135279,AC136977,CH471054,AF174536,AF191838,AK002192,AK291039,AK303683,AW275367,BC034950,AA970899,DA788357 NP_037386,EAW97133,AAF69106,AAF05989,BAA92129,BAF83728,BAG64676,AAH34950,Q9UHD2 Hs.505874 FLJ11330|NAK|T2K NF-kB-activating kinase|NF-kappa-B-activating kinase|serine/threonine-protein kinase TBK1 protein-coding 731934 TBKBP1 TBK1 binding protein 1 TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM] 14743216,12477932,9872452,8889548,17568778,17213182 9755 NM_014726,AC015674,CH471109,AB018318,BC111418,BC152407,BC167150,CB241552,CR620734,DT217050 NP_055541,EAW94805,EAW94806,BAA34495,AAI11419,AAI52408,AAI67150,A7MCY6 Hs.94790 KIAA0775|ProSAPiP2|SINTBAD TANK-binding kinase 1-binding protein 1|TBK1-binding protein 1|prosapip2 protein protein-coding 1346534 TBL1X transducin (beta)-like 1X-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq] 1580863 17210713,10330347,18193033,16258276,15601853,15489334,14980219,14527417,12628926,12477932,11931768,11389839,10944117,10809664,18374649,12502735,12150997,18326024 6907 NM_001139468,NM_001139466,NM_001139467,NM_005647,AC002549,AC003036,AC073488,CH471074,AB209608,AK289409,AK290962,BC020374,BC029394,BC032708,BC052304,Y12781 NP_001132940,NP_001132938,NP_001132939,NP_005638,EAW98771,EAW98772,BAD92845,BAF82098,AAH32708,AAH52304,CAA73319,O60907,Q59F53,BAF83651 Hs.495656 EBI|SMAP55|TBL1 F-box-like/WD repeat-containing protein TBL1X|OTTHUMP00000022879|transducin beta-like protein 1X|transducin-beta-like protein 1, X-linked protein-coding 1348910 TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. [provided by RefSeq] 1580863 18767146,18193033,17316888,16893456,15601853,15489334,14980219,14702039,12628926,12477932,11931768,11063877,14527417,19032343,18029348,18326024,18374649,20379614 79718 NM_024665,AC023235,AC078799,CH471052,AF086399,AF267864,AF268193,AF314544,AK022956,AK025746,AK296946,AL598314,BC034712,BC048298,BC060320,BC113421,BX648080,BX648935,DB459301,BC092400,CR604897 NP_078941,EAW78437,EAW78438,AAG44733,AAG44736,AAK00301,BAB14331,BAH12461,AAH48298,AAH60320,AAI13422,Q9BZK7,Q9H2I4,ADR83374 Hs.581171 C21|DC42|FLJ12894|IRA1|TBLR1 F-box-like/WD repeat-containing protein TBL1XR1|TBL1-related protein 1|nuclear receptor co-repressor/HDAC3 complex subunit|nuclear receptor corepressor/HDAC3 complex subunit TBLR1|transducin beta-like 1X-related protein 1 protein-coding 1345065 TBL1Y transducin (beta)-like 1Y-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq] 1580863 18511697,14702039,14660691,12815422,12477932,19605777 90665 BC130473,NM_134259,NM_134258,AC011297,AC012068,CH471163,AF332220,AF332221,AF332222,AK056903,AK298210,BC130471,NM_033284 NP_150600,NP_599021,NP_599020,EAW59126,EAW59127,EAW59128,AAK13472,AAK13473,AAK13474,BAG60480,AAI30472,AAI30474,Q9BQ87,ADR83034 Hs.664560 TBL1 F-box-like/WD repeat-containing protein TBL1Y|transducin beta-like 1|transducin beta-like protein 1Y|transducin-beta-like protein 1, Y-linked protein-coding 2793698 TBL1YP1 transducin (beta)-like 1, Y-linked pseudogene 1 12815422 286555 AC009494,NG_002819 TBL1YP pseudo 1354068 TBL2 transducin (beta)-like 2 This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq] 20570916,20571754,20679960,18193043,19615732,19656773,20864672,20972250,18029348,18996102,18596051,18193044,16140988,12975309,12477932,11230166,10575226,9860302,20562859 26608 FB342985,FB711108,NM_012453,AF097485,CH471200,AF056183,AF097484,AK000536,AK026529,AK074619,AK130791,AK302265,AK302277,AK314499,AL080162,AY358518,BC006308,BC012938,BC047354,BC114361,BQ025092,BX420755,CR621952,NG_023281 CAR81493,CAS91509,NP_036585,AAF06824,EAW69671,AAD28083,AAF06823,BAC11093,BAG63612,BAG63621,BAG37099,CAB45751,AAQ88882,AAH12938,Q8N2L6,Q96E41,Q9Y4P3,ABM82422,ABM85613 Hs.647044 DKFZp434N024|MGC134739|WBSCR13|WS-betaTRP OTTHUMP00000211559|OTTHUMP00000211565|WS beta-transducin repeats protein|Williams-Beuren syndrome chromosome region 13|transducin beta-like protein 2|williams-Beuren syndrome chromosomal region 13 protein protein-coding 1313000 TBL3 transducin (beta)-like 3 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq] 1580863 8307582,16189514,15635413,14702039,12477932,12429849,11790298,16169070,17255935,19615732,19724895,20198315 10607 NM_006453,AC005363,AC005606,CH471112,AB209173,AK095076,BC002361,BC007620,BC010231,BC014007,BC021563,BC035409,CR594622,U02609 NP_006444,EAW85585,EAW85586,EAW85587,EAW85588,EAW85589,BAD92410,AAH07620,AAH10231,AAH14007,AAH35409,AAA18945,Q12788 Hs.513267 SAZD WD repeat-containing protein SAZD|WD-repeat protein SAZD|transducin beta-like protein 3 protein-coding 68980 TBP TATA box binding protein Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminal. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. Mutations that expand the number of CAG repeats encoding this polyglutamine tract, and thus increase the length of the polyglutamine string, are associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. [provided by RefSeq] 1580863 18838386,20451497,9603936,9584164,9488487,9482861,9388200,9372921,9292011,9267036,9153318,9121429,9054383,9045704,8835540,8794892,8764062,8764009,8757291,8754792,8700832,8680883,8643494,8633057,8628302,8626665,8577725,8552083,8524284,8434021,8413269,8230415,8224850,8207805,8202368,8121496,8006019,7959796,7959752,7958900,7935440,7933101,7923369,7848298,7835343,7801123,7775442,7706261,7685215,7680771,7667283,7624363,7608968,2374612,2363050,2194289,1870994,1465435,12775419,12089333,9858607,9660973,10567391,9242374,9111364,12107178,8670810,9159119,7926747,9089417,9238003,8663456,9305922,8650542,9710597,8755740,9271120,7590250,11250903,9171375,10593900,11509574,11278496,8065335,9295363,11959914,16169070,15226435,15893730,15710329,11160734,12379483,15641800,14985389,14978680,14963322,14763955,14756671,14755733,14612417,14585974,14580349,14574404,12972251,12941701,12917344,12853230,12805114,12791683,12767124,12697807,12665565,12621023,12538582,12535529,12531510,12477932,12392551,12217962,12040021,11968006,11960008,11959865,11944977,11939898,11893333,11809839,11696545,11595744,11564863,11564744,11461703,11448935,11438666,11313753,11149922,11118327,11113176,11094070,11080476,11029584,10921893,10816571,10648625,10619841,10567404,10484774,10454579,10410676,10409662,10391676,10373544,10359315,10215616,10197586,10196196,10066804,9880542,9874563,9843967,9814863,9812988,9765201,9748258,9722567,9710587,9677423,9649342,9632719,18391197,18218637,17934876,17877750,17846415,17681538,17499043,17474109,17149738,17074809,17033685,16858508,16847693,16713569,16687213,16532453,16522640,16469772,16389595,16271277,16055710,16054804,15848047,15723054,15719058,15574413,15545613,15521976,15509807,15503103,15365789,15328344,15280358,15193429,7729427,11005381,12676957,9405375,7724559,8946909,1939271,2449431,19380697,19285969,19259763,19235102,18950845,18931662,18765812,18710943,18651325,18553934,18418687,10441524,10449590,10839990,12753906,15315821,16540471,17643375,19199812,19566714,19581089,19615732,19635797,19805548,20004653,20083121,7667268,7799929,8414971,8423815,8889548,9027316,15207618,15225551,8621548,19235719,19240132 6908 NG_008165,AL031259,CH471051,AK298272,AK304648,AK315222,BC109053,BC109054,BC110341,BT019657,NM_003194,CR456776,CR590323,CR612496,CR618783,FJ770048,L37705,M34960,M55654,X54993,Z22828,BM720195,CA422572,NM_001172085 NP_003185,CAA20286,CAD92542,CAD92543,CAD92544,EAW47418,EAW47419,BAG60533,BAG65425,AAI09054,AAI09055,AAI10342,AAV38463,CAG33057,ACN86311,AAC03409,AAA36731,CAA38736,P20226,Q32MN6,Q32MN7,Q5U0C8,Q7Z6S4,Q7Z6S5,Q7Z6S6,ACE87301,ACE86620,ACE87771,ACT64436,NP_001165556,Q6QR78,Q6UKI1 Hs.590872 GTF2D|GTF2D1|HDL4|MGC117320|MGC126054|MGC126055|SCA17|TFIID TATA sequence-binding protein|TATA-box binding protein N-terminal domain|TATA-box factor|TATA-box-binding protein|transcription initiation factor TFIID TBP subunit protein-coding 1315592 TBPL1 TBP-like 1 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that serves the same function as TBP and substitutes for TBP at some promoters that are not recognized by TFIID. It is essential for spermiogenesis and believed to be important in expression of developmentally regulated genes. [provided by RefSeq] 17643375,18482256,19858204,10220372,19369647,15767669,15673318,15489334,15269281,14574404,12477932,11861477,10570139,10082669,9889269,17353931,16169070 9519 NM_004865,AL035699,CH471051,AB020881,AF130312,AF136570,AK292320,AK313645,BC000381,BC017559,BI560657,CR593032,CR596561 NP_004856,CAB43704,CAD92515,CAD92516,CAD92517,CAD92518,EAW47995,EAW47996,EAW47997,EAW47998,BAA75218,AAD24800,AAD28785,BAF85009,BAG36402,AAH00381,AAH17559,P62380,Q7Z6T9,Q7Z6U0,Q7Z6U1,Q7Z6U2,ABZ92461 Hs.486507 MGC:8389|MGC:9620|STUD|TLF|TLP|TRF2 21 kDa TBP-like protein|21-kDA TBP-like protein|OTTHUMP00000017241|OTTHUMP00000017242|TATA box binding protein-related factor 2|TATA box-binding protein-like protein 1|TATA box-binding protein-related factor 2|TBP-like factor|TBP-like protein 1|TBP-related factor 2|TBP-related protein|second TBP of unique DNA protein protein-coding 1342829 TBPL2 TATA box binding protein like 2 17643375,20379614,17704303,17570761,14634207,12477932 387332 NM_199047,AL356801,CH471061,AY457923,BC117159,BC117185,DQ448593 NP_950248,EAW80675,EAW80676,AAR24281,AAI17160,AAI17186,ABD93323,Q6SJ96,ADR83151 Hs.528278 TBP2|TRF3 TATA box-binding protein-like protein 2|TATA box-binding protein-related factor 3|TBP-like protein 2|TBP-related factor 3 protein-coding 1343708 TBR1 T-box, brain, 1 This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. A similar protein has been disrupted in mice and shown to be critical for early cortical development, and causes loss of projection neurons in the olfactory bulbs and olfactory cortex. The C-terminal region this similar protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq] 1580863 7619531,15815621,15489334,12477932,11719470,10749215,15066269 10716 CH471058,AK312567,AK315865,BC029289,BC104844,BC113418,BI820633,U49250,AC009487,NM_006593,AK297438,AK299533,AK316161,AK226050 AAY15017,EAX11368,EAX11369,BAG35462,BAF98756,AAH29289,AAI04845,AAI13419,AAA92010,Q16650,Q56A81,NP_006584,BAH12582,BAH13061,BAH14532,ADR83340 Hs.210862 MGC141978|TBR-1|TES-56 OTTHUMP00000204563|OTTHUMP00000204564|T-box brain protein 1|T-brain-1|TBR-1 protein-coding 1312969 TBRG1 transforming growth factor beta regulator 1 737633 8125298,7654366,17110379,18582208,16582619,16344560,16303743,15489334,14702039,12477932,9373149,20506279 737633 84897 NR_016021,AP001524,CH471065,AK027527,AK027766,AK057749,AK074140,AK074594,AK222936,AL713631,AL831881,AY696294,NM_032811,BC018452,BC032312,BC041043,BC064392,BC073160,BC107428,BC109269,CR590604,CR608215,CR611163,CR616019,CR620045,CR620586,CR622460,DA292015,DQ144542 NP_116200,EAW67589,EAW67590,BAB55177,BAB71559,BAB84966,BAD96656,CAD28450,CAH10595,AAU10523,AAH18452,AAH32312,AAH41043,AAH73160,AAI09270,AAZ76016,Q05BL0,Q3YBR2,Q6GPH2,Q96LV8 Hs.436410 FLJ14621|FLJ25020|FLJ90113|MGC129890|NIAM|TB-5 nuclear interactor of ARF and MDM2|transforming growth factor beta regulator 1 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1320236 TBRG4 transforming growth factor beta regulator 4 20877624,17353931,9383053,11256614,16964243,15489334,14702039,12759187,12690205,12477932,10231032,9373149,8125298,16169070,20379614 9238 NM_004749,NM_030900,NM_199122,AC013416,CH236960,CH471128,AB023165,AF011792,AK001281,AK022575,AK092132,AK222943,AK298155,AK300489,AL833840,BC002732,BC014918,BC017235,BG703429,CR602383,CR618918,CR620307,CR625147 NP_112162,NP_004740,NP_954573,EAL23744,EAL23745,EAW61051,EAW61052,EAW61053,EAW61054,EAW61055,EAW61056,BAA76792,AAB69312,BAG50885,BAG51095,BAG52486,BAD96663,BAH12734,BAG62204,CAD38700,AAH14918,AAH17235,Q969Z0,ABM85092,AAH02732 Hs.231411 CPR2|FASTKD4|KIAA0948 FAST kinase domain-containing protein 4|FAST kinase domains 4|H_TD2522F11.8|OTTHUMP00000214262|cell cycle progression 2 protein|cell cycle progression protein 2|cell cycle progression restoration protein 2|protein TBRG4 protein-coding 1317100 TBX1 T-box 1 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1578373,1580863 20634891,11111039,14585638,15703190,19336370,19050236,17850965,17622328,17479646,17438107,17377518,17273972,16854283,16684884,16586352,15337468,12858556,12533514,11748311,11585671,9268629,19407855,19467348,19645056,19948535,20071775,20937753,21041608 1578373 6899 HM015598,NM_005992,NM_080646,NM_080647,NG_009229,AC000091,CH471176,DQ650705,AF012130,AF012131,AF373867,FJ515849 ADL14519,NP_005983,NP_542377,NP_542378,EAX03024,EAX03025,EAX03026,ABG25916,AAB94018,AAB94019,AAK58955,O43435,Q152R5,ACS13740,ACS13741,ACS13742,ACX32330 Hs.173984 CAFS|CTHM|DGCR|DGS|DORV|TBX1C|TGA|VCFS T-box 1 transcription factor C|T-box protein 1|T-box transcription factor TBX1|Testis-specific T-box protein|brachyury|t-box transcription factor TBX1 1|t-box transcription factor TBX1 2 protein-coding 1342498 TBX10 T-box 10 1580863 12915323,9545502,16327884,16247549,12477932,20544801,15703190,16285859,20572854,20634891,20672350 347853 NM_005995,AF033579,AP003385,CH471076,AY229977,BC113485,BC113487 NP_005986,AAC23481,EAW74662,AAO73483,AAI13486,AAI13488,O75333,ADR82958 Hs.454480 TBX13|TBX7 T-box 7|T-box protein 10|T-box transcription factor TBX10|T-box-containing transcriptional activator protein-coding 1317666 TBX15 T-box 15 T-box genes encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All contain a common DNA-binding domain, the T box.[supplied by OMIM] 1580863 19068278,16710414,14702039,12477932,9693034,20935629,20634891,20379614 6913 NM_152380,AL139420,AL357045,CH471122,AK096396,AK127536,BC122553,BX537778,CA412451,CA436813,NG_013361 NP_689593,CAI22503,CAI43066,CAI43067,CAI43068,EAW56691,BAC04776,BAG54518,AAI22554,CAD97837,Q5JT55,Q7Z679,Q8N8P2,Q96SF7 Hs.146196 TBX14 T-box 14|T-box protein 14|T-box protein 15|T-box transcription factor TBX14|T-box transcription factor TBX15 protein-coding 1350500 TBX18 T-box 18 1580863 14574404,9888994,17584735,16688725,12477932 9096 NM_001080508,AL035694,CH471051,AJ010278,AK308860,AK310179,BC040697,BC132715,BC157841 NP_001073977,CAD92511,EAW48639,CAB37937,AAH40697,AAI32716,AAI57842,O95935,Q8IW86,ADR83216 Hs.251830 T-box protein 18|T-box transcription factor TBX18 protein-coding 1320875 TBX19 T-box 19 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq] 1599334,1580863 9888994,18029348,19064610,17652218,16899054,16710414,16390921,15666849,15613420,15489334,15476446,14702039,12970370,12651892,12651888,12477932,11916612,11290323,19536175 1599334 9095 NM_005149,NG_008244,AL009051,CH471067,AJ010277,AK091862,AK129813,BC093664,BC093666 NP_005140,CAI22638,CAI22639,CAI22640,EAW90824,CAB37936,AAH93664,AAH93666,O60806,Q5TIH6,ABZ92200 Hs.716656 FLJ26302|FLJ34085|FLJ34543|TBS19|TPIT|dJ747L4.1 OTTHUMP00000038458|T-box factor, pituitary|T-box protein 19|T-box transcription factor TBX19|TBS 19 protein-coding 1322243 TBX2 T-box 2 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq] 1578402,1580863 20383145,20383146,11111039,10468588,11748239,19453261,19266077,19216023,18829543,18640248,18391951,18025091,17407139,16730707,15781639,15489334,14702039,14595187,12873224,12477932,12023302,12000749,9710594,9434949,8889548,8597636,8530034,20502058,20546612,19469638,18029348,19633291,19893584,19960541,20534814,20635360,20348948 1578402 6909 NM_005994,AC005746,CH471179,AB209378,AK001031,AL832900,AW006595,BC052566,BC070054,BM985069,CR615365,CR620143,S81264,U28049 NP_005985,EAW51424,EAW51425,EAW51426,BAD92615,CAH10619,AAH52566,AAB36216,AAA73861,Q13207,Q59FT1,Q69YM3 Hs.531085 FLJ10169 T-box protein 2|T-box transcription factor TBX2 protein-coding 1319719 TBX20 T-box 20 1580863 20200978,19414016,18834961,18275040,17668378,15489334,14550786,12853948,12690205,12477932,10936053,9847074,19762328,20211142,21076409 57057 NG_015805,NM_001166220,NM_001077653,AC005826,AC006379,AC009531,CH236951,CH471073,AJ237589,BC120945,BC120946,DQ986374,HM015599 NP_001159692,NP_001071121,AAD21787,EAL23971,EAW94048,CAB51916,AAI20946,AAI20947,ABJ15760,Q000T4,Q9UMR3,ADL14520 Hs.404167 ASD4 T-box protein 20|T-box transcription factor TBX20 protein-coding 1317938 TBX21 T-box 21 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq] 1580863 20193034,10761931,19535634,19473434,19362685,19362357,19348920,19307156,19298946,19287198,19269192,19258923,19234223,19168793,18840707,18753235,18504423,18504404,18414429,18212358,17949803,17705132,17703412,17667540,17541280,17378728,17325860,17445472,17445473,17237380,17117487,17082665,17075044,16750991,16498264,16487356,16434488,16273099,16210653,16179640,15927679,15860546,15806396,15712176,15684083,15632006,15604153,15489334,15248849,15241679,15131585,12960249,12938094,12477932,12128215,11087660,9373149,8125298,15737643,20713880,20855629,20634891,20974984,19615257,17074191,18619618,19176008,19336263,19639723,19691533,19692128,19757302,19805038,19818655,19879772,19915058,19923468,19950257,20056084,20175803,20237292,20429676,20503287,20211142,20977921,20675595 30009 NM_013351,NG_012166,AC015674,CH471109,AF093098,AF241243,AK223634,BC039739,GN337430,GN337449 NP_037483,EAW94804,AAF00055,AAF61243,BAD97354,AAH39739,Q53EK5,Q9UL17,CAY39299,CAY39301 Hs.272409 T-PET|T-bet|TBET|TBLYM T-box expressed in T cells|T-box protein 21|T-box transcription factor TBX21|T-cell-specific T-box transcription factor T-bet|transcription factor TBLYM protein-coding 1343120 TBX22 T-box 22 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 724722,1580863 11559848,11024289,19648124,18029348,17868388,17846996,16247549,15772651,15489334,14729838,14702039,12477932,12374769,11733204,20572854,20672350 724722 50945 NM_001109878,NM_001109879,NM_016954,NG_008998,AL031000,CH471104,FJ228480,FJ228481,AF251684,AK097514,AY035371,BC014194,DB456367 NP_001103348,NP_001103349,NP_058650,CAI43069,CAI43070,EAW98588,EAW98589,ACP42194,AAG23749,BAG53480,AAK63189,AAH14194,Q5JZ06,Q9Y458 Hs.721563 CLPA|TBXX|dJ795G23.1 OTTHUMP00000023603|T-box protein 22|T-box transcription factor TBX22 protein-coding 1349477 TBX23 T-box 23 57160 1345948 TBX3 T-box 3 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq] 2300329,1601419,1580863 21160077,20936779,9207801,11689487,12032820,11748239,12116211,10468588,18029348,19453261,19430479,18829543,18726671,18245468,17273972,17234970,17081983,16955224,16556916,16530712,16049973,15489334,15289316,14702039,12668170,12477932,12005433,10330342,8988164,12000749,19913121,20628086,19218121,19403417,20062060,20133910,20414254,21076409,21045733 2300329,1601419 6926 NM_016569,NG_008315,AC010177,AC026765,CH471054,AF002228,AF074999,AF140240,AF170708,AF216750,AK054604,AK075457,AK304639,AY034105,BC025258,CR618062,NM_005996 NP_005987,NP_057653,EAW98069,EAW98070,EAW98071,EAW98072,EAW98073,EAW98074,AAC12947,AAF61816,AAD50989,AAF61207,BAG65418,AAH25258,O15119,ABM87105,ABM83784 Hs.129895 TBX3-ISO|UMS|XHL T-box protein 3|T-box transcription factor TBX3|bladder cancer related protein XHL protein-coding 1319185 TBX4 T-box 4 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq] 1601422,1580863 12477932,19893584,19453261,10945475,15106123,18391951,15231748,10199965,8878690,20546612,20634891,20887794 1601422 9496 NM_018488,NG_008080,AC005901,CH471179,AF188703,AK310312,BC136403,BC142620,BC144062 NP_060958,EAW51428,AAF68854,AAI36404,AAI42621,AAI44063,P57082 Hs.143907 SPS T-box protein 4|T-box transcription factor TBX4 protein-coding 1313887 TBX5 T-box 5 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1578431 20450920,16183809,8988164,8988165,15138308,12237100,14519429,19430479,19336370,19187613,18828908,18726671,18701034,18451335,18378906,17584735,17534187,17273972,16917909,15653675,15489334,15221798,15087119,12858531,12668595,12477932,11748310,11183182,10974675,10842287,10199965,10077612,8054982,12845333,11431700,12499378,16332960,11161571,21045733,19586889,19648116,20062060,20062063,20379614,20414254,19913121,20628086,20677014,20519243,20802524,21076409 1578431 6910 NM_080717,NM_000192,NM_181486,NM_080718,NG_007373,AC009260,AC069240,CH471054,AB051068,AF086146,AF221714,AK290611,AK300251,BC011028,BC027942,U80987,U89353,Y09445 NP_542448,NP_000183,NP_852259,NP_542449,EAW98065,EAW98066,EAW98067,BAB55448,AAF34659,BAF83300,BAG62017,AAH27942,AAC51644,AAC04619,CAA70592,Q96TB0,Q99593,ABZ92187 Hs.381715 HOS T-box protein 5|T-box transcription factor TBX5 protein-coding 1317068 TBX6 T-box 6 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq] 1578435,1578436,1580863 20228709,9888994,9933572,18466071,17584735,15489334,14702039,12477932 1578435,1578436 6911 NG_023283,NM_004608,AC012645,AJ010279,CH471238,AJ007989,AK022330,BC026031,AC093512 NP_004599,CAB37938,EAW79926,EAW79927,CAA07812,BAB14014,AAH26031,O95947,Q9HA44,ABZ92188 Hs.198301 DFNB67 OTTHUMP00000162995|T-box protein 6|T-box transcription factor TBX6 protein-coding 1352487 TBXA1R thromboxane A1 receptor 6914 735834 TBXA2R thromboxane A2 receptor 1578439,1578440,1578445,1578446,1578448,1601447,1601450,1331525,1580863 18647220,18573679,18529068,18502100,18172303,18088343,18088317,18073117,18063812,18031559,18005048,17924829,17644091,17499743,17496729,17249521,17229546,17192347,16953279,16837469,16413928,16212421,16156795,16126723,15898979,15845539,15805995,15519496,15489334,15471868,15354262,15242977,15233797,15134434,15057824,14976202,14963009,14602550,14583632,14580363,14530262,12796499,12781781,12551898,12477932,12213432,12193606,12180983,12000493,11922633,11877412,11848439,11504827,10402514,10395940,9152406,8613548,8433523,8290554,8288221,8119956,1825698,19403042,19264973,19247692,19170518,19086263,19064572,18950617,18802021,18698092,20959415,21070398,8227091,8034687,7965765,7929844,7896853,15086532,15782186,19067769,20590159,19913121,20628086,8246916,16418336,18240029,18577758,19403525,19464661,19570744,19747485,19772916,19828703,20395963,19853959 1578439,1578440,1578445,1578446,1578448,1601447,1601450,1331525 6915 NM_001060,NM_201636,AC005175,CH471139,D15056,DQ268653,AY429110,BC028027,BC074749,BC074750,BC121148,BC121149,BM990145,U11271,U27325,AJ308102,AJ308103,NG_013363 NP_001051,NP_963998,AAC24302,AAC24303,EAW69301,EAW69302,BAA03649,ABB72549,AAR07905,AAH28027,AAH74749,AAH74750,AAI21149,AAI21150,AAA58957,AAA68608,P21731,Q05C92,Q0VAA9,Q0VAB0 Hs.442530 TXA2-R prostanoid TP receptor|thromboxane A2 receptor protein-coding 736923 TBXAS1 thromboxane A synthase 1 (platelet) This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1601450,1601455,1601457,1601459,1601461,1601472,634088,1601473,1300048,1601439,1601456,1601470,1580863 19403042,19343046,19276290,19124506,19114962,19064572,19046748,18264100,16357168,15870920,15489334,15128046,15067173,14718574,14565864,12853948,12721789,12477932,12432933,11956185,11782360,11465543,11418589,11337467,11297515,10391210,10391209,9890157,9847074,9678486,9373149,8964509,8900410,8889548,8366093,8325653,8198598,8125298,7986068,7925341,6101498,2195994,20383787,19729601,20227257,20379614,20452482,1930241,1730669,1714723,2043115,19913121,20628086,20673868,20677014,17207965,20647010,20931532 1601450,1601455,1601457,1601459,1601461,1601472,634088,1601473,1601439,1601456,1601470 6916 BM673654,CR625096,M74055,M80646,M80647,S60133,NM_001061,NM_030984,NG_008422,AC004914,AC004961,AC006021,AF233615,AF233616,AF233617,AF233618,AF233619,AF233620,AF233621,AF233622,AF233623,AF233624,AF233625,CH236950,CH471070,D34625,L36085,AK223466,AK296069,AK301164,AK303440,AU099213,BC014117,BC041157,NM_001130966,AK301049,NM_001166253,NM_001166254,NR_029394 EAW83934,AAA36742,AAA60617,AAA60618,P24557,Q16843,Q53F23,Q86UL7,Q96CN2,Q9UDV3,NP_001124438,NP_001052,NP_112246,AAD21788,AAP21887,AAF99269,AAF99270,AAF99271,AAF99272,AAF99273,AAF99274,AAF99275,AAF99276,AAF99277,AAF99278,AAF99279,EAW83935,EAW83936,BAA07011,AAC01761,BAD97186,BAG58828,BAG62753,BAG64487,AAH14117,AAH41157,BAH13397,NP_001159725,NP_001159726,ADQ31780 Hs.520757 CYP5|CYP5A1|FLJ52771|GHOSAL|THAS|TS|TXAS|TXS OTTHUMP00000211927|OTTHUMP00000211928|OTTHUMP00000211929|OTTHUMP00000211930|OTTHUMP00000211931|TXA synthase|cytochrome P450 5A1|cytochrome P450, family 5, subfamily A, polypeptide 1|platelet, cytochrome P450, subfamily V|thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A)|thromboxane-A synthase protein-coding 1349748 TC2N tandem C2 domains, nuclear 737633,1580863 16344560,15489336,15489334,14702039,12477932,11526914,11230166,11076863,16381901,21029358 737633 123036 NM_152332,NM_001128595,NM_001128596,AL121839,CH471061,AK093876,AK126359,AW275132,BC040503,BX647828,DA857139,DB215118,DB236967,AL590328 NP_689545,NP_001122067,NP_001122068,EAW81462,EAW81463,EAW81464,BAC04238,BAC86538,AAH40503,Q8N9U0,CAL37569,CAL37937 Hs.510262 C14orf47|C2CD1|FLJ36557|MTAC2D1|Tac2-N C2 calcium-dependent domain containing 1|membrane targeting (tandem) C2 domain containing 1|membrane targeting tandem C2 domain-containing protein 1|tandem C2 domains nuclear protein|tandem C2 protein in nucleus protein-coding 1601822 TCAM1 testicular cell adhesion molecule 1 homolog (mouse) Members of the immunoglobulin superfamily are found in hundreds of proteins of different functions. Immunoglobulin-like domains may be involved in protein-protein and protein-ligand interactions. This superfamily member is the human ortholog of a testis-specific cell adhesion molecule previously characterized in mouse and rat. The putative membrane protein contains immunoglobulin domains and may play an essential role in sperm formation. The gene is located downstream from the growth hormone locus on chromosome 17. The locus evolved by a series of duplications and portions of this gene have been duplicated during these events and can be observed as orphaned exons between the growth hormone genes. [provided by RefSeq] 11195349,9889334,2744760,19766163,20210993 146771 NR_002947,AC015651,AB026156 Hs.629177 TCAM1|TCAM1P pseudo 1348921 TCAP titin-cap (telethonin) Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq] 1580863 16962094,19679566,19875404,20201937,20474083,14702039,9817758,9350988,11846417,17921333,19412328,18849585,18513529,18408010,17117180,16713569,16713295,16678796,16650785,16531234,16490376,16407954,16352453,16344560,15967462,15582318,15489334,15136035,15010812,12507422,12477932,12446666,12209887,11842093,11763198,11699871,10984498,10655062,9804419,9645487,9245996,15802564,20373002,20602615 8557 NM_003673,NG_008892,AC087491,AJ010063,AJ011098,CH471152,EF179184,AJ000491,AK096328,BC012628,BC013330,BF670957,DA899335 NP_003664,CAA08987,CAA09479,EAW60586,EAW60587,ABN05287,CAA04129,BAG53261,AAH12628,AAH13330,O15273,ABM83738,ABM87057 Hs.77628 CMD1N|LGMD2G|T-cap|TELE|telethonin 19 kDa sarcomeric protein|limb girdle muscular dystrophy 2G (autosomal recessive)|telethonin|titin cap protein protein-coding 1320461 TCEA1 transcription elongation factor A (SII), 1 1708494,11313499,12676794,17081983,16736500,16648364,16630816,16344560,15635413,15489334,15351637,15302935,14702039,14506279,12943681,12914699,12878157,12761297,12477932,11591653,9765293,9765201,17643375,8812434,8798387,8566795,8206389,8112616,7626141,2471707,1559613,1378807,9305922 6917 NM_201437,NM_006756,AC100821,CH471068,AK026617,AK094425,AK290454,AK297729,AK297957,AU125645,AU280634,BC072460,BM477937,BT019995,BX538034,CR542221,CR604302,M81601,X57198,X62585 NP_958845,NP_006747,EAW86739,EAW86740,EAW86741,BAF83143,BAH12657,BAH12696,AAH72460,AAV38798,CAG47017,AAA61138,CAA40484,CAA44470,P23193 Hs.491745 GTF2S|SII|TCEA|TF2S|TFIIS transcription elongation factor A protein 1|transcription elongation factor S-II protein 1|transcription elongation factor TFIIS.o protein-coding 1351284 TCEA1P transcription elongation factor A (SII), 1 pseudogene 8112616 6918 NG_001200,AL445670,X75159 GTF2SP|TCEA1P pseudo 1344959 TCEA1P2 transcription elongation factor A (SII), 1 pseudogene 2 17525332,17287340,17081983,15489334,15302935,8112616,7626141,1708494,1378807 399511 NG_003186,AC097359,X73534 CAA51940 pseudo 1348268 TCEA1P3 transcription elongation factor A (SII), 1 pseudogene 3 399550 1351655 TCEA1P4 transcription elongation factor A (SII), 1 pseudogene 4 399553 731353 TCEA2 transcription elongation factor A (SII), 2 The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16189514,8566795,17374514,16214896,15507123,15489334,14702039,12943681,12761297,12477932,12034815,11780052,11709559,9765201,9441762,1559613,18655026,12392551,16169070,17643375 6919 NM_198723,NM_003195,AL355803,AL590548,CH471077,U86749,AJ844627,AK027824,AW474513,BC014211,BC018896,BC031877,BC050623,BC050624,BC056407,BC098585,BI668232,BI756937,CB961240,CR592543,CR599028,CR606123,CR610250,CR614332,CR620029,D50495,CR456940 NP_942016,NP_003186,CAD11900,CAD11901,CAI13198,CAI13199,CAI13200,EAW75168,EAW75169,EAW75170,AAC39553,CAH59746,BAG51383,AAH18896,AAH50623,CAG33221,BAA09089,Q15560,Q5JRI7,Q5JRI8,Q5ZEZ5,Q6IB64,Q86VL0,ABZ92433 Hs.505004 TFIIS OTTHUMP00000031635|OTTHUMP00000031636|OTTHUMP00000031637|OTTHUMP00000031638|testis-specific S-II|transcription elongation factor A protein 2|transcription elongation factor S-II protein 2|transcription elongation factor TFIIS.1|transcription elongation factor TFIIS.l protein-coding 1322790 TCEA3 transcription elongation factor A (SII), 3 1580863 15489334,12477932,9790746,1559613,19913121,20628086,9765201,20178742 6920 NM_003196,AL109936,AL357134,CH471134,AA873235,AJ223473,AK027024,AK290272,AK300707,AK310039,AY540752,BC041613,BE880226,BQ949868 NP_003187,CAI19025,CAI22178,EAW95048,EAW95049,CAA11393,BAF82961,BAG62386,AAT44402,AAH41613,O75764,Q5DR83,ABZ92434 Hs.446354 TFIIS|TFIIS.H rhabdomyosarcoma antigen MU-RMS-40.22|transcription elongation factor A protein 3|transcription elongation factor S-II protein 3|transcription elongation factor TFIIS.h protein-coding 1352968 TCEAL1 transcription elongation factor A (SII)-like 1 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq] 1580863 16331344,16054204,15807891,15773840,15772651,15489334,12477932,11248419,10353443,10051408,8206389,7592688,17353931,16341674,7971997,18640142,16697770,16542834,16364249,19615732 9338 NM_001006640,NM_004780,NM_001006639,AF095906,AL049610,CH471190,BC000809,BM784458,BU602495,BX092470,CB053221,CF454849,CR602449,M99701 NP_001006641,NP_004771,NP_001006640,AAD17840,CAB55700,EAW54702,AAH00809,AAA60149,Q15170,ABM85299,ABW03709 Hs.95243 SIIR|p21|pp21 TCEA-like protein 1|nuclear phosphoprotein p21/SIIR|transcription elongation factor A protein-like 1|transcription elongation factor S-II protein-like 1 protein-coding 1342883 TCEAL2 transcription elongation factor A (SII)-like 2 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. [provided by RefSeq] 1580863 15772651,15489334,12477932,10051408,9776767,8889548,19615732 140597 NM_080390,AL035214,CH471115,AF325115,AK312138,BC093932,BC104764,BM699243,CD580311,CR601113,NG_012818 NP_525129,CAI42278,EAX02900,AAL37355,BAG35074,AAH93932,AAI04765,Q9H3H9,ABZ92140 Hs.401835 MY0876G05|my048 OTTHUMP00000023704|TCEA-like protein 2|transcription elongation factor A protein-like 2|transcription elongation factor S-II protein-like 2 protein-coding 1346044 TCEAL3 transcription elongation factor A (SII)-like 3 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq] 737633,1580863 17081983,15772651,15489334,14702039,12477932,10051408 737633 85012 NM_001006933,NM_032926,CH471190,Z73965,AF163263,AK098494,BC007622,BC008703 NP_001006934,NP_116315,EAW54703,EAW54704,CAI42029,AAQ13592,BAC05318,AAH07622,AAH08703,Q969E4,ABZ92136 Hs.727724 MGC15737 OTTHUMP00000023758|TCEA-like protein 3|transcription elongation factor A protein-like 3|transcription elongation factor S-II protein-like 3 protein-coding 1351026 TCEAL4 transcription elongation factor A (SII)-like 4 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing occurs for this gene; however, the full-length nature of all transcript variants has not yet been described. [provided by RefSeq] 737633 17081983,17076909,15772651,15489334,14702039,12905813,12477932,10051408,9373149,8125298,17207965,19615732 737633 79921 AL833640,AY885169,BC012296,BU536419,CD700101,CR594284,AK225117,NM_024863,NM_001006935,NM_001006937,CH471190,Z73965,AF271783,AF314542,AK024827,AK093021,NG_016315 AAX82039,AAH12296,Q96EI5,NP_079139,NP_001006936,NP_001006938,EAW54705,EAW54706,CAI42031,AAG44794,AAL40909,BAB15023,ADQ31616,CAM26811 Hs.194329 DKFZp686M0279|FLJ21174|NPD017 OTTHUMP00000160534|OTTHUMP00000217589|OTTHUMP00000217592|OTTHUMP00000217593|OTTHUMP00000217594|OTTHUMP00000217596|OTTHUMP00000217597|TCEA-like protein 4|transcription elongation factor A protein-like 4|transcription elongation factor S-II protein-like 4 protein-coding 1354272 TCEAL5 transcription elongation factor A (SII)-like 5 15772651,12477932,8889548 340543 NM_001012979,CH471190,Z68694,BC132922,BC132924,CR596252,CR622925,AF086094,BM725918,NG_016591 NP_001012997,EAW54717,CAI41976,AAI32923,AAI32925,Q5H9L2 Hs.403462 TCEA-like protein 5|transcription elongation factor A protein-like 5|transcription elongation factor S-II protein-like 5 protein-coding 1606134 TCEAL6 transcription elongation factor A (SII)-like 6 15772651,15489334,12477932 158931 NM_001006938,CH471115,Z70719,BC071675,DN993514 NP_001006939,EAX02901,EAX02902,CAI42012,AAH71675,Q6IPX3 Hs.447815 Tceal3 TCEA-like protein 6|transcription elongation factor A (SII)-like 3|transcription elongation factor A protein-like 6|transcription elongation factor S-II protein-like 6 protein-coding 1347340 TCEAL7 transcription elongation factor A (SII)-like 7 737633 19419758,18806825,15870691,15772651,15489334,14702039,12477932,16344560,19966855,20454512 737633 56849 NM_152278,CH471190,Z92846,AJ297363,AK094400,BC005988,BC016786,CR612143,DA142141,DB481725 NP_689491,EAW54714,CAI41965,CAB95948,BAG52864,AAH05988,AAH16786,Q9BRU2,Q9NQ44,ABZ92139,ABZ92152 Hs.21861 MGC23947|MPMGp800C04260Q003 TCEA-like protein 7|transcription elongation factor A protein-like 7|transcription elongation factor S-II protein-like 7 protein-coding 1352350 TCEAL8 transcription elongation factor A (SII)-like 8 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq] 737633,1580863 15772651,15489334,12477932,10051408 737633 90843 NM_001006684,NM_153333,CH471190,Z68694,AK026349,AL833632,BC035573,BU932815,CR622012,NG_016256 NP_001006685,NP_699164,EAW54718,CAI41978,CAI41979,AAH35573,Q8IYN2,ABZ92134 Hs.389734 MGC45400 TCEA-like protein 8|transcription elongation factor A protein-like 8|transcription elongation factor S-II protein-like 8 protein-coding 2303433 TCEANC transcription elongation factor A (SII) N-terminal and central domain containing 16344560,15489334,14702039,12477932,16189514,20098747 170082 AC079383,CH471074,AK097032,AK291271,AK294465,AK315599,BC020095,BC044219,DA926246,DC344354,NM_152634 NP_689847,EAW98823,BAC04930,BAF83960,BAG57696,BAG37970,Q8N8B7 Hs.222855 MGC17403 TFIIS central domain-containing protein 1|TFS2-M domain-containing protein 1|transcription elongation factor A N-terminal and central domain-containing protein protein-coding 733902 TCEB1 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq] 1580863 20728451,10851083,7660129,14564014,15781449,12676794,18844214,18508766,16675548,16503656,16189514,15590664,15574592,15489334,15280393,14960280,12943681,12559969,12477932,12149480,12052866,12050673,12004076,12004003,11994304,11739384,11384984,11006129,10973499,10692460,10587522,10535940,10449727,10205047,10051596,9447969,9122164,8244996,7821821,7660130,7660122,16303161,15574593,19030229,18305400,17353931,8674032,17183367,17304241,17558023,19159283,19615732,20379614 6921 NM_005648,AC022868,CH471068,AK057889,AL832244,BC013809,BC093065,BC100028,BC100283,BX649138,CR592224,CR603697,L34587 NP_005639,EAW87015,EAW87016,EAW87017,EAW87018,EAW87019,EAW87020,EAW87021,AAH13809,AAH93065,AAI00029,AAI00284,AAA67650,Q15369,ABM85123,ABW03698 Hs.554594 SIII RNA polymerase II transcription factor SIII subunit C|SIII p15|eloC|elongation factor siii p15 subunit|elongin 15 kDa subunit|elongin-C|transcription elongation factor B polypeptide 1|transcription elongation factor B, polypeptide 1 protein-coding 1352768 TCEB1P transcription elongation factor B (SIII), polypeptide 1 pseudogene 12853948,9847074,9031623,8912791,8646875,8530064 6922 NG_002399,AC008267,CH236961 ABZ92540 EMC19|OCP2|TCEB1L pseudo 3051003 TCEB1P10 transcription elongation factor B (SIII), polypeptide 1 pseudogene 10 100462871 AC068601,NG_021925 pseudo 3051002 TCEB1P11 transcription elongation factor B (SIII), polypeptide 1 pseudogene 11 100462872 AC007965,NG_021932 pseudo 4109289 TCEB1P12 transcription elongation factor B (SIII), polypeptide 1 pseudogene 12 9847074 100462874 AC095380,NG_004636 pseudo 4109288 TCEB1P13 transcription elongation factor B (SIII), polypeptide 1 pseudogene 13 9847074 100462875 AC069130,NG_004636 pseudo 4109287 TCEB1P14 transcription elongation factor B (SIII), polypeptide 1 pseudogene 14 9847074 100462876 AC007379,NG_004636,AC007742 pseudo 4108630 TCEB1P15 transcription elongation factor B (SIII), polypeptide 1 pseudogene 15 100462877 AC007359,NG_004755 pseudo 4108628 TCEB1P16 transcription elongation factor B (SIII), polypeptide 1 pseudogene 16 100462878 AC016752,NG_004755 pseudo 4108627 TCEB1P17 transcription elongation factor B (SIII), polypeptide 1 pseudogene 17 100462879 NG_004755,AC017005 pseudo 2974690 TCEB1P18 transcription elongation factor B (SIII), polypeptide 1 pseudogene 18 100130626 AL139413,NG_022971 pseudo 3051000 TCEB1P19 transcription elongation factor B (SIII), polypeptide 1 pseudogene 19 100462880 AL136381,NG_022789 pseudo 1343367 TCEB1P2 transcription elongation factor B (SIII), polypeptide 1 pseudogene 2 283747 NG_003219,AC016134 pseudo 3077614 TCEB1P20 transcription elongation factor B (SIII), polypeptide 1 pseudogene 20 100287778 NG_028102,AL592436 pseudo 3051008 TCEB1P21 transcription elongation factor B (SIII), polypeptide 1 pseudogene 21 100462866 AC007040,NG_021506 pseudo 3129500 TCEB1P22 transcription elongation factor B (SIII), polypeptide 1 pseudogene 22 100287579 AP002348,NG_022978 pseudo 3050999 TCEB1P23 transcription elongation factor B (SIII), polypeptide 1 pseudogene 23 100462881 AL445209,NG_021970 pseudo 3102873 TCEB1P24 transcription elongation factor B (SIII), polypeptide 1 pseudogene 24 100287692 AJ271736,NG_023013 pseudo 2837481 TCEB1P25 transcription elongation factor B (SIII), polypeptide 1 pseudogene 25 100288710 AJ271736 pseudo 1626552 TCEB1P3 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) pseudogene 3 644540 NG_009727,AL136318 dJ254P11.1 pseudo 3051001 TCEB1P4 transcription elongation factor B (SIII), polypeptide 1 pseudogene 4 100462873 AC009952,NG_021935 pseudo 2902393 TCEB1P5 transcription elongation factor B (SIII), polypeptide 1 pseudogene 5 100288493 AC021107,NG_023022 pseudo 3051007 TCEB1P6 transcription elongation factor B (SIII), polypeptide 1 pseudogene 6 100462867 AC095381,NG_004636 pseudo 3051006 TCEB1P7 transcription elongation factor B (SIII), polypeptide 1 pseudogene 7 100462868 NG_004636,AC022486 pseudo 3051005 TCEB1P8 transcription elongation factor B (SIII), polypeptide 1 pseudogene 8 100462869 AC008175,NG_021922 pseudo 3051004 TCEB1P9 transcription elongation factor B (SIII), polypeptide 1 pseudogene 9 100462870 AC073649,NG_021924 pseudo 734149 TCEB2 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq] 20728451,17636018,19615732,14960280,12943681,12559969,12477932,12149480,12052866,12050673,12004076,11994304,11739384,11384984,11006129,10973499,10692460,10587522,10535940,10449727,10205047,10051596,9765201,9122164,8244996,7660130,7660122,7638163,16303161,15574593,18173839,19030229,17353931,7660129,14564014,15781449,12676794,18508766,17611602,16675548,16503656,16189514,15616553,15590664,15574592,15489334 6923 NM_007108,NM_207013,AC004493,AC092117,AC093517,CH471112,AI191983,BC013306,BC065000,BF967495,BG329435,BM553320,BM921799,BU533433,L42856 NP_009039,NP_996896,AAC08452,EAW85472,EAW85473,EAW85474,EAW85475,EAW85476,AAH13306,AAH65000,AAA75522,Q15370,ABZ92541 Hs.172772 ELOB|SIII OTTHUMP00000205116|RNA polymerase II transcription factor SIII p18 subunit|RNA polymerase II transcription factor SIII subunit B|SIII p18|elongin 18 kDa subunit|elongin, 18-kD subunit|elongin-B|transcription elongation factor B polypeptide 2|transcription elongation factor b (siii) polypeptide 2 (18kd, elongin b) protein-coding 736026 TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq] 730113,1580863 7660129,18029348,12676794,17081983,16710414,16498413,16189514,15635413,15489334,15302935,15207703,14702039,12943681,12477932,12076535,11994304,11384984,10587522,9806752,9305922,9110174,8654961,8619474,8586449,11810028,10051596,19730683 730113 6924 NM_003198,AL031295,CH471134,AF070554,AF116729,AK096079,AK310229,AK313079,AW451236,BC002883,BC019949,BC020448,CR595017,DB461774,L47345 NP_003189,CAB40157,EAW95070,EAW95071,AAO15305,BAG35905,AAH02883,AAA75492,Q14241,ABM83952,ABM87269 Hs.15535 EloA|FLJ38760|FLJ42849|SIII|SIII p110|TCEB3A RNA polymerase II transcription factor SIII subunit A1|elongin 110 kDa subunit|elongin-A|transcription elongation factor B alpha subunit|transcription elongation factor B polypeptide 3|transcription elongation factor b (siii), polypeptide 3 protein-coding 1349544 TCEB3B transcription elongation factor B polypeptide 3B (elongin A2) This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. 730113,730012,1580863 10692460,16713569,16189514,15489334,12477932,8244996,7660129 730113,730012 51224 NM_016427,AC012254,CH471096,AB030834,AK314984,BC036022,BC103911,HC007324,HC044685 NP_057511,EAW62900,BAA90665,BAG37483,AAH36022,AAI03912,Q3SY90,Q8IYF1,CBH19467,CBH30672 Hs.375035 ELOA2|HsT832|MGC119351|TCEB3L RNA polymerase II transcription factor SIII subunit A2|elongin-A2|transcription elongation factor (SIII) elongin A2 elongin A2 protein-coding 1346594 TCEB3C transcription elongation factor B polypeptide 3C (elongin A3) 1580863 12477932,11994304,11932239,8889548 162699 NM_145653,AC012254,AB076840,BQ185879,NG_016749 NP_663628,BAC01113,Q8NG57,AAI72326,ABZ92135 Hs.515381 HsT829|TCEB3L2 RNA polymerase II transcription factor SIII subunit A3|eloA3|elongin-A3 protein-coding 1343292 TCEB3CL transcription elongation factor B polypeptide 3C-like 12477932 728929 NM_001100817,AC012254,AC090373,BC103912,BC103913 NP_001094287,AAI03913,AAI03914,Q3SY89 Hs.631677 HsT828|MGC119353 RNA polymerase II transcription factor SIII subunit A3-like-1|eloA3-like-1|elongin-A3-like-1|transcription elongation factor B polypeptide 3C-like-1 protein-coding 1626264 TCEB3CL2 transcription elongation factor B polypeptide 3C-like 2 16177791 653420 XM_929328,AC090373 XP_934421,A6NLF2 transcription elongation factor B polypeptide 3C-like 2 protein-coding 1323365 TCERG1 transcription elongation regulator 1 This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq] 1580863 19660470,19715701,19845895,20215116,9315662,15383276,18187414,17018562,16782886,16644732,16344560,15635413,15485897,15456888,15296517,14672652,12821179,12477932,12376575,12226669,11604498,11172033,11003711,10908677,10373521,9731529,14499622,17218272,20936779 10915 AK304319,NM_006706,NM_001040006,AC011375,CH471062,AB209910,AF017789,AK074511,AK126455,AU125627,BC006109,BC014151,BC015864,BC035150,BC062351,BC111727,DA034307,DA737038 BAH14157,NP_006697,NP_001035095,EAW61840,EAW61841,EAW61842,BAD93147,AAB80727,AAI11728,O14776 Hs.723884 CA150|MGC133200|TAF2S|Urn1 TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD|TATA box-binding protein-associated factor 2S|co-activator of 150 kDa|transcription elongation regulator 1|transcription factor CA150 protein-coding 1346689 TCERG1L transcription elongation regulator 1-like 14702039,12477932,8889548,16385451,20379614,20732627 256536 NM_174937,AC067746,AL390203,CH471066,AK096269,BC042951,BC093639,BC101535,BM689725 NP_777597,CAH74038,EAW49150,AAH42951,AAH93639,AAI01536,Q5VWI1 Hs.126575 MGC126584 5730476P14Rik|transcription elongation regulator 1-like protein protein-coding 731955 TCF12 transcription factor 12 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 11256614,11230166,11076863,10768861,9618760,9584154,9446597,9242638,7842744,1886779,1720355,1501295,1446075,16407974,16169070,8163514,1312219,19043539,18456661,16582099,16381901,16344560,15489336,15351717,15333839,14702039,14516699,12826747,12566462,12477932,11802795,11755530,19730683,20379614,20483740 6938 NM_207037,NM_003205,NM_207036,NM_207038,NM_207040,AC010999,AC016525,AC090511,AC090532,AF271609,AF271610,AF271611,AF271612,AF271613,AF271614,AF271615,AF271616,AF271617,AL442094,CH471082,U35052,AK022018,AK056961,AK294617,AK294991,AK302749,AK302923,AK303028,AK304007,AK308101,AK310708,AK311359,AK311709,AK312710,AL831981,AU120213,BC050556,BC051769,BK001049,BU178185,BX537967,BX647333,CR597209,M65209,M80627,M83233 NP_996920,NP_003196,NP_996919,NP_996921,NP_996923,AAF82570,AAF82574,AAF82571,AAF82572,AAF82575,AAF82576,AAF82577,AAF82578,AAF82573,EAW77511,EAW77512,EAW77513,EAW77514,EAW77515,EAW77516,EAW77517,BAG57800,BAG58057,BAG63962,BAG64087,BAG64154,BAG64923,CAD89914,AAH50556,DAA01129,CAD97931,AAC37571,AAA58632,AAB62389,Q99081,Q9NQY1,Q9NQY2,Q9NQY3,Q9NQY4,Q9NQY5,Q9NQY6,Q9NQY7,Q9NQY8,Q9NQY9,CAL38450,CAL38596,ABZ92191,ACE87674,ACE86985 Hs.511504 HEB|HTF4|HsT17266|bHLHb20 DNA-binding protein HTF4|E-box-binding protein|TCF-12|class B basic helix-loop-helix protein 20|helix-loop-helix transcription factor 4|transcription factor 12|transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)|transcription factor HTF-4 protein-coding 1318246 TCF15 transcription factor 15 (basic helix-loop-helix) The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq] 1580863 8825648,8041747,12477932,11780052,19419955 6939 NM_004609,AL133231,CH471133,EF506886,AI218364,AW290965,BC067836,U08336 NP_004600,CAC00470,EAX10664,ABO43039,AAH67836,AAA19969,Q12870,Q6NVX3,AAI60039 Hs.437 EC2|PARAXIS|bHLHa40 TCF-15|basic helix-loop-helix transcription factor 15|class A basic helix-loop-helix protein 40|protein bHLH-EC2|transcription factor 15 protein-coding 1345711 TCF19 transcription factor 19 1304482 1868030,16702430,16344560,15489334,15342556,14574404,12477932,10777095,8595903,20587610,10485890,19851445 1304482 6941 NM_007109,NM_001077511,AB029516,AB029517,AB029518,AB029519,AB088113,AB103619,AB202105,AL662833,AL662844,AL773544,BA000025,BX088580,CH471081,CR388229,CR753819,CR759815,CR847794,U25826,AK315258,BC002493,BC033086,BC044632,BP365938,BT007247,BX647174,DA115077,DA116232,DA485961,DB260358,S53374 NP_009040,NP_001070979,BAA82324,BAA82325,BAA82326,BAA82327,BAC54945,BAF31280,BAE78629,CAI17406,CAI18329,CAI18484,BAB63312,CAI18707,EAX03363,EAX03364,EAX03365,CAQ07091,CAQ10779,AAB60363,AAH02493,AAH33086,AAH44632,AAP35911,AAB19475,Q9Y242,ABM86768,ABW03827 Hs.584807 SC1|SC1-1 SC1(TCF19)-6|SC1(TCF19)-7|SCI(TCF19)-4|TCF-19|transcription factor 19|transcription factor SC1 protein-coding 69146 TCF20 transcription factor 20 (AR1) The protein encoded by this gene binds a platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 (stromelysin 1) promoter. The protein localizes to the nucleus and displays DNA-binding and transactivation activities. It is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 20564319,20816152,20936779,19602701,19720844,20161779,20490451,20509872,10995766,19082521,18984664,18701471,18591388,17913746,17081983,15831449,15592455,15302935,12477932,10849425,10591208,9730594,9179496,8663478,7760812 6942 NM_181492,NM_005650,AL021878,AL031346,AY007595,BX247885,CH471095,AB006630,BC013180,U19345 NP_852469,NP_005641,CAB42440,AAG28930,CAI95721,EAW60495,EAW60496,EAW60497,EAW60498,BAA22961,AAC36392,Q9UGU0,AAI56503,AAI72542 Hs.475018 AR1|KIAA0292|SPBP OTTHUMP00000198710|SPRE-binding protein|TCF-20|nuclear factor SPBP|stromelysin 1 PDGF-responsive element-binding protein|stromelysin-1 PDGF-responsive element-binding protein|stromelysin-1 platelet-derived growth factor-responsive element binding protein|transcription factor 20 protein-coding 1351692 TCF21 transcription factor 21 TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 9507058,18978678,16415157,15489334,15231748,14702039,14574404,12493738,12477932,11591653,10572052,9733105,9545526,8889548,7553065,16169070,20634891,20211142 6943 NM_198392,NM_003206,AL356109,CH471051,AF035718,AF047419,AK091844,AL550251,BC025697,BT019660,BU688835,CF128914,CR450293,CR594669,CR606057,CR616308,W73859 NP_938206,NP_003197,CAC26822,EAW47999,EAW48000,EAW48001,AAC62514,AAC62532,AAH25697,AAV38466,CAG29289,O43680,ABW03673,ABW03324 Hs.78061 POD1|bHLHa23 TCF-21|capsulin|class A basic helix-loop-helix protein 23|epicardin|pod-1|podocyte-expressed 1|transcription factor 21 protein-coding 1606698 TCF23 transcription factor 23 12477932,14516699,11701948,10652346 150921 NM_175769,BK000143,CH471053,BC137191,BC137192,BC144525,AC013403 NP_786951,DAA00305,EAX00624,AAI37192,AAI37193,Q7RTU1 Hs.591583 OUT|TCF-23|bHLHa24 class A basic helix-loop-helix protein 24|class II basic helix-loop-helix protein TCF23|transcription factor 23 protein-coding 1602784 TCF24 transcription factor 24 14516699 100129654 BK000144,AC110998,AW028708,CX788264,NM_001193502 DAA00306,Q7RTU0,NP_001180431 Hs.120040 bHLHa25 transcription factor 24 protein-coding 1602223 TCF25 transcription factor 25 (basic helix-loop-helix) TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM] 14702039,12477932,12107429,10470851,16574069,18068114,16189514,15489334,19060904,19851296,20198315 22980 NM_014972,AC092143,AC092385,CH471184,AB028972,AF130092,AF322111,AK024679,AK095785,BC000959,BC009349,BC011884,BI913551,CR589952,CR599110,CR614861,CR623529,DQ321703,AK301053 NP_055787,EAW66677,EAW66678,EAW66679,BAA83001,AAG35518,AAG50276,BAB14959,AAH00959,AAH09349,AAH11884,ABC55265,Q9BQ70,Q9H384,Q9H7D3,ABZ92138,BAG62664 Hs.415342 FKSG26|Hulp1|KIAA1049|NULP1|PRO2620|hKIAA1049 NULP1|TCF-25|nuclear localized protein 1|transcription factor 25 protein-coding 1351290 TCF3 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) 1580863 20519628,10545951,2105528,10958665,2493990,12435739,19299559,19125693,18727914,18455790,18390709,17311319,17272506,17183364,16814783,16782810,16769578,16705184,16546275,16449526,16215946,16206189,16055439,16007194,15934135,15555546,15509787,15507449,15351717,15333839,15310760,15280352,15242870,15138269,15070701,15057824,15044608,14757642,14627819,14592976,14536079,12700034,12566462,12477932,12217327,12200424,12107263,11994467,11812799,11802795,11784080,11591653,11238923,11237058,10924525,10903890,10866689,10781029,10768861,10757985,10749989,10636926,10471746,10086727,9742120,9624159,9584154,9582372,9525934,9507011,9409784,9242638,9235903,9214632,9209374,9199284,9184158,9073453,9001211,8999959,8948587,8918463,8900141,8759016,8628307,8617811,8432525,8164688,8159721,8152805,10502414,10497239,8001125,7935390,7933101,7623842,7568177,2799390,2503252,2385294,2308859,2163343,2112746,1967983,1967982,1818757,1720355,1671560,1649701,1446075,1386162,1325437,16407974,12878195,10567574,10915743,11509675,11940670,15030778,15327769,16043483,16428437,17426122,19801649,20022378,20050020,20217071,9418854,15923648,20211142,19308989 6929 CH471139,AK024806,AK310998,BC005166,BC011665,BC014680,BC110580,M24404,M24405,M31222,M31523,M65214,X52078,NM_003200,NM_001136139,AC005321,AC006274,HI179080 AAC99797,EAW69467,EAW69468,EAW69469,EAW69470,EAW69471,EAW69472,AAH11665,AAI10581,AAA56829,AAA56830,AAA52331,AAA61146,AAC41693,CAA36297,P15923,Q2TB39,Q6PJU3,NP_003191,NP_001129611,AAC27373,CBX53848 Hs.371282 E2A|ITF1|MGC129647|MGC129648|VDIR|bHLHb21 E2A immunoglobulin enhancer-binding factor E12/E47|TCF-3|VDR interacting repressor|class B basic helix-loop-helix protein 21|immunoglobulin enhancer-binding factor E12/E47|immunoglobulin transcription factor 1|kappa-E2-binding factor|transcription factor E2-alpha|transcription factor ITF-1 protein-coding 732921 TCF4 transcription factor 4 This gene encodes transcription factor 4, a basic helix-turn-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is expressed predominantly in pre-B-cells, although it is found in other tissues as well. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq] 1580863 16434966,20205897,17436255,17436254,16126178,15489334,15351717,15333839,14702039,12477932,11784080,11756408,11591653,11266605,10757985,9668116,9618760,9584154,9302263,9242638,8999959,8978694,8576241,2308860,16690926,15331612,12657632,11713476,11713475,16407974,20211142,20705583,20739273,21037240,9824680,10903890,16630820,2105528,1681116,19635457,19571808,19563778,19453261,19394332,19269971,19235238,19131553,19124064,18992165,18854153,18799618,18792017,18635522,18627065,18519685,18439914,18371301,18222743,12799378,12408825,17122440,20372961,16532032,20421335,20673877,17478476,11500377,11802795,16007074,16306047,17283121,17410209,19443654,19571811,19679347,19924301,19938247,20219685,20379614,16714285,20027603,20696899,20825314 6925 NM_003199,NG_011716,AC013587,AC018994,AC090684,AC091103,CH471096,U75701,AB209741,NM_001083962,AK026674,AK095041,AK095066,AK096862,AK122765,AK299169,AK300038,AK300612,AK300636,AK301144,AK315074,AK316165,BC031056,BC125084,BC125085,BJ989626,CR604143,CR612521,CR614823,CR624281,M74718,M74719,X52079,AK021980 NP_001077431,NP_003190,EAW63017,EAW63018,EAW63019,EAW63020,EAW63021,EAW63022,EAW63023,EAW63024,AAC51824,BAD92978,BAG52974,BAG53382,BAG53716,BAH12962,BAG61849,BAH13314,BAG62325,BAH13417,BAH14536,AAI25085,AAI25086,AAA60310,AAA60311,CAA36298,P15884,Q59ES0 Hs.605153 E2-2|ITF2|MGC149723|MGC149724|PTHS|SEF2|SEF2-1|SEF2-1A|SEF2-1B|bHLHb19 ITF-2|OTTHUMP00000163567|SEF-2|SL3-3 enhancer factor 2|TCF-4|class B basic helix-loop-helix protein 19|immunoglobulin transcription factor 2|transcription factor 4 protein-coding 1314197 TCF7 transcription factor 7 (T-cell specific, HMG-box) 2301908 20211142,20844743,9783587,19479237,19453261,19263529,19131662,19028820,18974840,16424171,16344560,15778344,14960582,14702039,12847244,12765974,12477932,12408869,11266540,10489374,9488439,8622675,7640309,7579399,1989880,1569101,18579517,19913121,20536507,20603037,20613673,20628086,18772112,19559392,19956102,20416077,19304756 2301908 6932 NM_003202,NM_201634,NM_201632,NM_213648,NM_001134851,AC008608,AC011336,AF163776,CH471062,X63901,AK057580,AK093530,AK093683,AK131428,AK310591,AL832816,AL834166,BC048769,BC072023,CR592040,DB127975,X59869,X59870,X59871,Z47361,Z47362,Z47363,Z47364,DA627229,DB137814,DB145426,NR_033449,GN344127,GN344129,GN344131,GN344133,HI179100,HI179102,HI179104,HI179106,HI179108 NP_003193,NP_963965,NP_963963,NP_998813,NP_001128323,AAF00616,EAW62277,EAW62278,EAW62279,EAW62280,CAB56795,BAG51937,BAG52735,BAG52748,AAH48769,AAH72023,CAA42526,CAA42527,CAA42528,CAA87439,CAA87440,CAA87441,CAA87442,P36402,ABZ92190,CAY55999,CAY56000,CAY56001,CAY56002,CBX53858,CBX53859,CBX53860,CBX53861,CBX53862 Hs.573153 FLJ36364|MGC47735|TCF-1 OTTHUMP00000159390|OTTHUMP00000159391|T-cell-specific transcription factor 1|transcription factor 7|transcription factor-7, T-cell specific protein-coding 1323251 TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) 1578492,2301908,1580863 1741298,11085512,19308021,15815621,15489334,12477932,11266540,9916915,11136974,20532534,16565489,17234346,17873379,18258400,19301967,19373426,19906297,19304756,20379614 1578492,2301908 83439 NM_031283,AC011236,AC093162,CH471053,X62870,AB031046,BC058894,BF434361 EAW99542,NP_112573,AAY15068,AAY24094,CAB91064,BAB18185,AAH58894,Q53T87,Q9HCS4 Hs.516297 TCF-3|TCF3 HMG box transcription factor 3|HMG-box transcription factor TCF-3|transcription factor 7-like 1 protein-coding 1317786 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. 2312454,2312455,2312453,2312417,2301908,2312434,2312433,1580863 19913121,20550665,20571754,20578204,20589678,20597906,20602615,20616309,20628086,20648057,20654575,20682688,20798759,20802253,19304756,20581827,20694148,14661054,15684397,16385451,17072306,17873903,17972059,18193033,18772112,19156536,19401414,19573884,19602480,19713311,19718565,19720844,19732438,19734900,19741467,19760027,19789636,19794065,19806338,19808892,19825152,19833889,19864407,19876004,19895682,19924244,19933996,19934000,19948975,20028944,20032493,20033802,20041287,20043145,20054294,20075150,20081857,20081858,20092643,20095040,20097709,20107109,20118932,20122174,20142250,20161779,20185807,20203524,20215779,20299486,20361036,20379614,17093941,17093940,17091236,17065361,17063324,17052462,17031610,17020404,17003360,17003358,16950124,16936218,16936217,16936216,16936215,16855264,16724116,16690926,16569639,16547505,16532032,16415884,16344560,16311123,16306047,16291872,16204248,15905022,15806138,15670774,15591320,15514942,15489334,15331612,15040893,12861022,12799378,12727872,12477932,12446687,12378619,12368361,12086873,11980438,11940574,11931652,11739494,11713476,11713475,11711551,11528255,11504726,11266540,17934151,17909099,17901222,17875931,17805508,17768662,17725629,17709525,17697858,17683561,17671651,17668382,17665514,17661009,17659738,17653210,17618413,17609304,17601994,17593304,17579832,17579206,17563454,17554300,17540954,17519421,17503332,17476472,17470138,17463249,17463248,17463246,17460697,17456004,17437080,17429603,17416797,17392368,17977958,17971425,17351281,17342473,17340123,17317761,17311858,17293876,17283121,17259383,17245589,17245407,17226113,17181866,17143297,17130514,17109766,10828605,10694436,10080941,9916915,9373149,8125298,1741298,20508220,20712903,20816152,20849430,20879858,20889853,20923526,20929593,20957343,20967696,20980453,20532534,20640398,20873210,20878273,18461161,18445358,18443202,18439914,18437354,18398040,18397358,18372903,18347071,18342627,18310307,18302196,18291022,18288125,18282631,18268068,18268006,18264689,18257044,18248681,18239663,18203713,18166673,18097733,18072015,18048388,18039847,9065401,16714285,15525634,9727977,16007074,18071026,15578569,12408868,10937998,18216022,15853773,19643578,19636253,19615048,19602701,19592620,19585101,19533015,19509102,19506043,19502414,19497595,19482368,19473183,19386626,19380854,19368707,19351735,19324937,19288077,19286335,19279076,19267370,19258437,19258404,19252133,19247628,19247372,19228405,19225753,19221600,19211816,19183934,19172244,19169495,19168596,19149908,19141698,19141695,19139842,19105201,19082521,19057525,19056611,19055834,19053027,19050058,19033397,19020324,19020323,19012045,19002430,18996470,18992263,18984664,18972257,18958766,18931037,18853134,18839133,18823720,18806947,18781613,18762805,18755497,18719881,18712344,18706099,18702948,18694974,18689695,18655717,18650481,18621708,18611970,18599616,18598350,18597214,18591388,18555673,18546086,18541996,18519685,18516622,18498634,18493736,18478343,18469204,15525529,15377999,15294866,17072303,17983804,10919662,12556497,20384434,20424228,20437825,20478041,20485196,20490451,20503258,20540670,20546291,20459822,9065402 2312454,2312455,2312453,2312417,2301908,2312434,2312433 6934 HM352838,HM352839,HM352840,HM352841,HM352843,HM352844,HM352845,HM352848,HM352849,HM352850,HM352851,CH471066,NM_001146274,NM_001146283,NM_001146284,NM_001146285,NM_001146286,NG_012631,AJ270770,AL135792,AL158212,AL445486,AL451084,NM_030756,HM352846,HM352847,NM_001198525,NM_001198526,NM_001198527,NM_001198528,NM_001198529,NM_001198530,NM_001198531,AB034691,AB440195,AB451266,AK074705,AK225809,AK296305,AK299295,AK301483,AK303684,AK315243,AK316111,BC032656,BX648364,CR536574,DA473655,FJ010164,FJ010165,FJ010166,FJ010167,FJ010168,FJ010169,FJ010170,FJ010171,FJ010173,FJ010174,Y11306,FJ010172,HM352842 ADK35174,ADK35175,ADK35176,ADK35177,ADK35179,ADK35180,ADK35183,ADK35184,ADK35185,ADK35186,ADK35187,CAI40404,CAI40405,CAI40406,CAI40408,CAI40409,CAI40410,CAI40411,EAW49506,EAW49507,EAW49508,EAW49509,EAW49510,NP_110383,NP_001139746,NP_001139755,NP_001139756,NP_001139757,NP_001139758,CAB97212,CAB97213,CAB97214,CAB97215,CAB97216,CAB97217,CAB97218,CAB97219,CAH71770,CAH71771,CAI16037,CAI16038,CAI16039,CAI16040,CAH70497,CAH70498,CAH70499,CAH70500,ADK35181,ADK35182,NP_001185454,NP_001185455,NP_001185456,NP_001185457,NP_001185458,NP_001185459,NP_001185460,EAW49513,EAW49514,EAW49515,EAW49516,EAW49517,BAA86225,BAH24004,BAG70080,BAG51988,BAG59004,BAG61310,BAG62997,BAG64677,BAH14482,AAH32656,CAG38811,ACI28522,ACI28523,ACI28524,ACI28525,ACI28526,ACI28527,ACI28528,ACI28529,EAW49512,ACI28530,ACI28531,ACI28532,CAA72166,Q5JRY4,Q5JRY5,Q5VVR7,Q5VVR8,Q6FHW4,Q9NQB0,EAW49511,ADK35178 Hs.593995 TCF-4|TCF4 HMG box transcription factor 4|T-cell factor 4|T-cell factor-4 variant A|T-cell factor-4 variant B|T-cell factor-4 variant C|T-cell factor-4 variant D|T-cell factor-4 variant E|T-cell factor-4 variant F|T-cell factor-4 variant G|T-cell factor-4 variant H|T-cell factor-4 variant I|T-cell factor-4 variant J|T-cell factor-4 variant K|T-cell factor-4 variant L|T-cell factor-4 variant M|T-cell factor-4 variant X2|T-cell-specific transcription factor 4|hTCF-4|transcription factor 7-like 2 protein-coding 1348705 TCFL5 transcription factor-like 5 (basic helix-loop-helix) 1580863 9763657,12923186,12477932,11780052,11306602,17006541 10732 CH471077,AB012124,AF070992,AJ271337,BC046933,BC065520,CR621094,NM_006602,AL035669 EAW75329,EAW75330,EAW75331,BAA36557,AAD53986,CAC24700,AAH46933,Q86TP4,Q9UL49,NP_006593,CAC12752 Hs.126248 CHA|E2BP-1|Figlb|MGC46135|bHLHe82 HPV-16 E2 binding protein 1|HPV-16 E2-binding protein 1|cha transcription factor|transcription factor-like 5 protein protein-coding 1320079 TCHH trichohyalin 1580863 20722389,7685034,18643848,17081983,12477932,8423399,1431214,17353931,20585627,7686953,12853460,19896111 7062 NM_007113,AL589986,L09190,S63672,AY827491,BC131826,BC131827 NP_009044,CAH70024,AAA65582,AAB27489,AAX12418,AAI31827,AAI31828,Q07283,Q16043,Q5D861 Hs.432416,Hs.553300 MGC157889|MGC157890|THH|THL|TRHY trichohyalin protein-coding 1605587 TCHHL1 trichohyalin-like 1 20585627,12477932 126637 NM_001008536,AL591893,CH471121,AY456639,BC137493,CS673536,CS690919,FB665672,GM706884 NP_001008536,CAH72897,EAW53391,AAS13485,AAI37494,Q5QJ38,CAP07535,CAP11503,CAR97118,CAT82390 Hs.546477 S100A17|THHL1|basalin S100 calcium binding protein A17|S100 calcium-binding protein A17|intermediate filament-associated protein|trichohyalin-like protein 1 protein-coding 1604269 TCHP trichoplein, keratin filament binding 15731013,16189514,15731018,15731017,15731016,15731015,15731014,14702039,12477932,18931701 84260 NM_032300,NM_001143852,AC084876,CH471054,AK000079,AK092736,AK301262,AY007230,AY210413,BC004285,BC022838,BX648596,CS673586,CS690969,FB665722,GM706934 NP_115676,NP_001137324,EAW97883,EAW97884,BAC03960,BAG62828,AAG12971,AAH04285,Q9BT92,ABW03857,ABW03552,CAP07553,CAP11522,CAR97137,CAT82435 Hs.410924 MGC10854 mitochondrial protein with oncostatic activity|mitostatin|trichoplein keratin filament-binding protein|tumor suppressor protein protein-coding 1603702 TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq] 8579597,9806637,15800125,10329006,19453261,19371798,19172990,18715141,18270567,17082597,15809087,15300850,14597263,14584882,14580332,14523594,12788495,12566520,12552563,12477932,12161516,12054167,11836511,11532986,10942435,10888887,10440860,10340843,10224039,10221984,9442887,9210392,20525692,20424301,19507210,20877624,17662945,2874839 10312 NM_006019,NM_006053,NG_007878,AF033033,AP002807,CH471076,AF025374,AW083897,AY548967,AY548968,AY548969,AY548970,AY548971,AY708388,AY708389,AY708390,AY708391,BC018133,BC032465,CR594613,CR599870,CR602058,U45285,AA625923,BX388184 NP_006010,NP_006044,AAD31081,EAW74689,EAW74690,EAW74691,EAW74692,AAC35742,AAS59834,AAS59835,AAS59836,AAS59837,AAS59838,AAU20795,AAH18133,AAH32465,AAA97878,Q13488,Q64F87,Q6QBN6,Q6QBN7,Q6QBN8,ABW03394 Hs.495985 ATP6N1C|ATP6V0A3|Atp6i|OC-116kDa|OC116|OPTB1|Stv1|TIRC7|Vph1|a3 ATPase, H+ transporting, 116kD|OC-116 kDa|T cell immune response cDNA7 protein|T-cell immune regulator 1|T-cell immune response cDNA 7|T-cell immune response cDNA7 protein|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a|V-ATPase 116 kDa|V-ATPase 116-kDa|V-type proton ATPase 116 kDa subunit a|V-type proton ATPase 116 kDa subunit a isoform 3|osteoclastic proton pump 116 kDa subunit|specific 116-kDa vacuolar proton pump subunit|vacuolar proton translocating ATPase 116 kDa subunit A protein-coding 1318064 TCL1A T-cell leukemia/lymphoma 1A 1580863 20382409,11707444,7809072,19155496,19064921,18820675,18546844,17890451,17846228,17659340,17625607,17592280,17548807,17360849,17178851,17151114,16189514,16002684,15489334,15459205,15325703,12672960,12576313,12477932,12421830,12381789,12127395,12009899,11607815,10983986,10077617,20553335,9738977,9519406,7987816,2783489,19480937,19536169,19668332,19776126,19889012,20357824,20379614,20395523,9520462,21172079,20876420 8115 NM_021966,NM_001098725,AL139020,CH471061,X82241,BC003574,BC005831,BC009502,BC009891,BC014024,BG718395,CR456796,CR597499,CR602539,CR607470,CR614970,X82240 NP_068801,NP_001092195,EAW81622,EAW81623,AAH03574,AAH05831,AAH14024,CAG33077,CAA57708,P56279,ABM83426,ABM86639 Hs.2484 TCL1 T-cell leukemia/lymphoma protein 1A|T-cell lymphoma-1|T-cell lymphoma-1A|oncogene TCL-1|oncogene TCL1|protein p14 TCL1 protein-coding 1346019 TCL1B T-cell leukemia/lymphoma 1B 1580863 16169070,10983986,14702039,12477932,11707444,11607815,10851082,10344735,10077617,20800603,20228224 9623 NM_199206,NM_004918,AB025274,AF110465,AL133467,CH471061,AB018563,AF110466,CR457087,AF137027,BC041616,BC051000,AI250350,BQ058954 NP_954676,NP_004909,BAA82476,AAD16996,EAW81619,EAW81620,BAA76712,CAG33368,O95988,Q9NPF3,AAD16997,AAD30130,AAH41616,AAH51000 Hs.632346 SYN-1|TML1 SYN-1|T-cell leukemia/lymphoma protein 1B|T-cell lymphoma/leukemia 1B|TCL1/ MTCP1-like 1|TCL1/MTCP1-like protein 1|oncogene TCL-1B|oncogene TCL1B|syncytiotrophoblast-specific protein protein-coding 1349828 TCL4 T-cell leukemia/lymphoma 4 3194416,2189107 6946 1344014 TCL6 T-cell leukemia/lymphoma 6 The function of this protein has not yet been defined; however, this protein may play a role which is similar to or complementary to other T-cell leukemia/lymphoma proteins during early embrogenesis. The association of this gene with T-cell leukemia chromosome translocations implicates this gene as a candidate for leukemogenesis. Complex alternative splicing of this gene results in multiple transcript variants, six of which have been fully described. Among these described variants, four different open reading frames have been identified; three of the six variants code for an identical product. [provided by RefSeq] 15489334,12477932,10851082,10588720,14702039,20031603 27004 AB035335,AB035337,AB035338,AB035339,AF195820,AF195821,BC041075,BX161462,CR600897,AB035346,AL133467,CH471061,AB035332,AB035333,AB035334,AK023714,NR_028288 BAA96374,BAA96375,BAA96376,AAF07203,AAF07204,AAH41075,CAD61923,P56846,Q86TV1,Q9NPH1,Q9P2S0,Q9P2S1,BAA96373,EAW81609,EAW81610,EAW81611,EAW81612,EAW81613,EAW81614,EAW81615,EAW81616,EAW81617,EAW81618,BAA96371,BAA96372 Hs.510368 FLJ13652|TCL6e1|TCL6f1|TCL6f2|TNG1|TNG2 miscrna 1349641 TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq] 1580863 19913121,20628086,19303062,19686235,19729796,19948975,20082058,20216556,2777761,18830263,18485163,17891500,17487979,16740002,16470748,16341674,16335952,16268464,15941899,15834031,15489334,15342556,15201366,15073531,14739547,14656021,12923155,12590948,12477932,12194912,11788601,11717507,11373332,1463480,1176444,20852008 6947 NM_001062,AP002347,CH471076,M74722,AK292990,BC018632,BM818792,BP370727,J05068,BM769693 NP_001053,EAW73861,BAF85679,AAA61058,P20061,AAI56608,ABM83733,ABM87053 Hs.2012 TC1|TCI TC I|TC-1|haptocorin|haptocorrin|transcobalamin-1 protein-coding 1347590 TCN2 transcobalamin II; macrocytic anemia This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. [provided by RefSeq] 1580449,1580450,1580451,1580863 3782074,1708393,19274320,19161160,19048631,19019335,18988749,18818748,18806228,18799873,18700049,18635682,18447718,18435414,18427977,18386810,18226574,18023275,17992530,17449906,17436311,17366004,17220211,17119065,17035141,16917939,16894458,16820193,16470748,15937947,15782407,15489334,15461802,15086930,14725943,14718574,14632784,12911562,12660150,12477932,12456598,12413492,12091374,12064907,11159542,10591208,9847074,9373149,8443384,8439564,8125298,7913804,7849710,7742531,19461557,19324355,7713919,7695633,20615890,20664391,20808328,20216556,19527514,10518276,12107818,19373259,19546821,19737740,19777601,19936946,19948975,20031554,20056620,20082058,20144600,20237949,20458436,2309761,3461892,3466852,655167,6860794,7129444,20140262,20852008,20883119,20948192 1580449,1580450,1580451 6948 AAB25526 NM_000355,NG_007263,AC005006,AF047576,AF076647,CH471095,AK225445,AK313711,BC001176,BC011239,CR456591,CR590469,CR604069,CR607717,L02647,L02648,M60396,NM_001184726 NP_000346,AAC05491,AAG24506,EAW59907,EAW59908,EAW59909,EAW59910,AAH01176,AAH11239,CAG30477,AAA61056,AAA61057,AAA61054,AAB25526,P20062,Q96FD4,CAK54622,CAK54921,ABM83737,ABM87056,NP_001171655 Hs.417948 D22S676|D22S750|II|TC|TC II|TC-2|TC2|TCII macrocytic anemia|transcobalamin II; macrocytic anemia|transcobalamin-2|vitamin B12-binding protein 2 protein-coding 1320415 TCOF1 Treacher Collins-Franceschetti syndrome 1 This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599379 20634891,12777385,17643375,19027870,19527688,19615732,20003452,20237496,12210332,12114482,11734546,11013442,10982400,10545604,9811939,9736782,9373149,9299440,9074926,9042910,8889548,8563749,8488840,8125298,1765376,1303194,15604408,12171929,12477932,20538960,20800603,17353931,9096354,15249688,19067896,18688869,17786119,17081983,16964243,16801042,16102917,15832313,15489334,15340364,15302935,15039977,15019983,14702039,17620599 1599379 6949 NM_001135243,NM_001135244,NM_001135245,NM_000356,NM_001008657,NG_011341,AC011372,CH471062,U79659,U84664,AB209317,AI419459,AI939467,AK096467,AK225284,AK296918,AK299167,AK303611,AK307586,AL133039,AW135418,AY460334,BC008331,BC011764,BC014559,BC016144,BC027252,BC033093,BM664489,BX537490,DC377932,U40847,U76366,NM_001195141,U79660 NP_001128715,NP_001128716,NP_001128717,NP_000347,NP_001008657,EAW61732,EAW61733,EAW61734,EAW61735,EAW61736,EAW61737,EAW61738,EAW61739,AAB40722,AAC51185,BAD92554,BAG59473,BAG61214,BAG64623,CAB61367,AAR87774,AAH11764,AAH14559,AAH16144,AAH27252,AAH33093,AAC50903,AAC51181,Q13428,Q59FZ2,Q9UFD4,NP_001182070 Hs.519672,Hs.605019 MFD1|treacle OTTHUMP00000224042|OTTHUMP00000224044|OTTHUMP00000224077|Treacher Collins syndrome protein|nucleolar trafficking phosphoprotein|treacle protein protein-coding 732136 TCP1 t-complex 1 This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 18029348,1630491,11532003,19132087,17939680,17081983,16916647,16465465,16341674,15923617,15745879,15489334,15251459,14574404,12887895,12665801,12477932,12215766,12060742,11933046,11771755,11018062,10978337,10791973,10524223,10353914,9885248,9337846,9250675,9189717,8982604,8889548,8812443,8733136,8718679,8633246,8098536,7953530,7916460,7908441,7904580,7615668,3653076,3476253,2377466,1901944,1630492,1602151,1572657,16085932,18782753,18715871,10075921,12502735,14499622,19913121,20628086,14532270,17643375,18775504,20193073,19684306,16497536 6950 NM_001008897,NM_030752,AL135914,CH471051,M26885,M27271,M27272,AA810047,AK312604,BC000665,BM697304,BM827784,BT006969,CR590270,CR596767,CR603769,CR606609,CR608240,CR609567,CR613792,CR615945,CR617240,CR619708,CR622372,CR624087,X52882 NP_001008897,NP_110379,CAI21851,EAW47616,EAW47617,EAW47618,AAA61059,AAA61060,AAH00665,AAP35615,CAA37064,P17987,ABM92217,ABM84697 Hs.363137 CCT-alpha|CCT1|CCTa|D6S230E|TCP-1-alpha T-complex protein 1 subunit alpha|T-complex protein 1, alpha subunit|t-complex protein 1|tailless complex polypeptide 1 protein-coding 1316655 TCP10 t-complex 10 homolog (mouse) 1580863 10934474,8111376,14574404,12477932,17207965 6953 NM_004610,AL021331,AL592444,CH471051,AA994391,BC063451,BC065839,BC068592,DB446953,U03399 NP_004601,CAI42705,CAI39675,EAW47495,AAH63451,AAA82109,Q12799,ADQ32567 Hs.351 MGC34049|TCP10A OTTHUMP00000017628|T-complex protein 10A homolog|t-complex 10 (a murine tcp homolog) protein-coding 1343659 TCP10L t-complex 10 (mouse)-like 20098747,15910542,15489334,15469726,14702039,14586771,12477932,10830953,9373149,8889548,8125298,17207965 140290 NM_144659,AP000274,AP000275,CH471079,AF115967,AK001794,AK058078,AK223529,BC022024,BC027970,BC033855,BG717680,BG721020,BI829783,BX111775,CB243926 NP_653260,EAX09869,AAM18531,BAA91915,BAB71653,BAD97249,AAH27970,AAH33855,Q8TDR4,ADQ31627 Hs.5811 C21orf77|FLJ10932|MGC34297|PRED77|TCP10A-2 T-complex 10A-2|T-complex protein 10A homolog 2|T-complex protein 10A-2|TCP10-like|t-complex 10 (a murine tcp homolog)-like protein-coding 1343977 TCP10L2 t-complex 10-like 2 (mouse) 401285 NM_001145121,AL121935,CH471051 NP_001138593,EAW47503,EAW47504 Hs.691976 bA517H2.3 t-complex 10-like 2 protein-coding 1351114 TCP11 t-complex 11 homolog (mouse) 18391951,14702039,12905703,12545228,12477932,11756566,9322250,1893875,1427894,20098747,20546612 6954 NM_001093728,NM_018679,AL138721,CH471081,AF260330,AF269223,AF536532,AF536533,AK057234,AK098590,AK301778,AK301975,AK302022,AK302375,AK302456,AK315078,AK316403,AY069943,BC033729,BC040003,BC048418,BC090050,HC007326,HC044687 NP_001087197,NP_061149,CAI12438,CAI12439,CAI12440,CAI12441,CAI12442,CAI12443,EAX03808,EAX03809,AAF91370,AAF75551,AAN04044,AAN04045,BAG51889,BAH13551,BAH13610,BAH13688,BAH13714,BAG37546,BAH14774,AAL58042,AAH33729,AAH40003,AAH48418,AAH90050,Q5TB88,Q5TB93,Q5TB94,Q8WWU5,CBH19468,CBH30673,BAH13597 Hs.435371 D6S230E|KIAA0229|MGC111103 OTTHUMP00000016244|OTTHUMP00000222639|OTTHUMP00000222650|OTTHUMP00000222658|T-complex protein 11 homolog|t-complex 11 (a murine tcp homolog) protein-coding 1602322 TCP11L1 t-complex 11 (mouse)-like 1 16344560,15342556,14702039,12477932,20098747,20205591 55346 NM_018393,NM_001145541,AC131263,AL121926,CH471064,AK002198,AK021448,AK090646,BC030582,BC041696,BP281502,DA088926,DA340843 NP_060863,NP_001139013,CAC48254,EAW68205,EAW68206,EAW68207,EAW68208,EAW68209,EAW68210,BAA92131,BAB13827,BAG52206,AAH41696,Q9HAL7 Hs.655341 FLJ11336|FLJ11386|dJ85M6.3 t-complex 11 (mouse) like 1 protein-coding 1605554 TCP11L2 t-complex 11 (mouse)-like 2 12477932 255394 NM_152772,AC079174,AC080012,CH471054,AF306671,AF306858,AK314055,BC017872,BC033617,CR607890 NP_689985,EAW97774,EAW97775,EAW97776,EAW97777,EAW97778,EAW97779,BAG36762,AAH33617,Q8N4U5,ABM82241,ABM85425 Hs.696047 MGC40368 T-complex protein 11-like protein 2 protein-coding 1348249 TCP1P1 t-complex 1 pseudogene 1 12690205,9847074 647047 NG_006549,AC010132,AC027269,CH236951 EAL24003 CCT1-3P|TCP1L1 pseudo 1351377 TCP1P2 t-complex 1 pseudogene 2 6952 NG_003036,AC008817 CCT1-2P|TCP1L2 pseudo 1354018 TCP1P3 t-complex 1 pseudogene 3 19584346 400013 AC024901,AC087237,NG_021108 CCT1-1P|TCP1L3 pseudo 1342729 TCTA T-cell leukemia translocation altered gene 15231748,12477932,11181995,8889549,7728759,15489334,19560569,19692168,20046013,17207965,19913121,20628086 6988 NM_022171,AC104452,CH471055,AA181568,AK000824,AK311839,BC005157,CB054963,CR457411,CR601095,CR604395,CR608503,CR613604,CR620159,CR624816,EL954558,L41143 NP_071503,BAG34781,AAH05157,CAG33692,AAA97514,P57738,ADQ31822 Hs.517962 T-cell leukemia translocation-altered gene protein|T-cell leukemia translocation-associated gene protein protein-coding 1604203 TCTE1 t-complex-associated-testis-expressed 1 12477932,9570741,2568335,1916824,19773279 202500 NM_182539,AL353588,CH471081,AA732744,AK301825,AK304265,BC035022 NP_872345,CAI40745,CAI40746,EAX04266,BAG63271,BAG65128,AAH35022,Q5JU00,ABM82437,ABM85628 Hs.189183 D6S46|FLJ50041|MGC33600 T-complex-associated testis-expressed protein 1|tcte-1 APPROVED protein-coding 1322136 TCTE3 t-complex-associated-testis-expressed 3 12584439,12477932,1505969,21085971 6991 NM_174910,AL354892,CH471051,AF519569,BC113639 NP_777570,CAI19973,EAW47439,AAN34631,AAI13640,Q8IZS6,ADR83492 Hs.584808 MGC142199|TCTEX1D3 T-complex testis-specific protein 3|T-complex-associated testis-expressed protein 3|Tctex1 domain containing 3|tcte-3|tctex1 domain-containing protein 3 protein-coding 1603544 TCTEX1D1 Tctex1 domain containing 1 16344560,14702039,12477932 200132 NM_152665,AL354978,CH471059,AI016360,AK098192,AK307100,AK307878,BC106885,CR605314,DA520308 NP_689878,CAH71841,EAX06517,EAX06518,EAX06519,EAX06520,BAC05257,AAI06886,Q8N7M0 Hs.479226 FLJ40873|MGC125768|RP11-266I14.2 tctex1 domain-containing protein 1 protein-coding 1604497 TCTEX1D2 Tctex1 domain containing 2 12477932 255758 NM_152773,AC069257,AI298516,BC015348,BC021177,CK818899 NP_689986,AAH15348,AAH21177,Q05DG1,Q8WW35 Hs.135997 MGC33212 tctex1 domain-containing protein 2 protein-coding 1606104 TCTEX1D4 Tctex1 domain containing 4 16982625,12477932 343521 NM_001013632,AL592166,BC092499,DQ132441 NP_001013654,CAI13007,AAH92499,ABA06522,Q5JR98 Hs.585137 OTTHUMP00000010266|Tctex2 beta|novel Tctex-1 family domain-containing protein|protein N22.1|tctex-2-beta|tctex1 domain-containing protein 4 protein-coding 1606246 TCTN1 tectonic family member 1 This gene encodes a member of the tectonic family of secreted and transmembrane proteins. The orthologous gene in mouse is required for formation of most ventral cell types. It functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. 16357211,15489334,14702039,12975309,12477932,15342556 79600 NM_001082538,NM_001082537,AC002350,AC144522,CH471054,AK024780,AK055891,AK092775,AK128417,AY358184,BC030993,BC033811,BC040113,BC044885,NM_024549,BC062611,CA419765,CR600997,CR608794,CR614841,CR616304,CR623429,CR624567,CR624799,DN997186,DQ278868,AK295514,AK301732,BP275624,NM_001173975,NM_001173976 NP_078825,NP_001076007,NP_001076006,EAW97929,EAW97930,EAW97931,EAW97932,BAB15000,BAB71036,BAC03973,AAQ88551,AAH30993,AAH33811,AAH40113,AAH62611,ABB90560,Q05BR9,Q2MV58,BAG58431,BAH13543,NP_001167446,NP_001167447 Hs.211511 FLJ21127|TECT1 tectonic 1|tectonic-1 protein-coding 1605624 TCTN2 tectonic family member 2 16357211,15489334,14702039,12477932 79867 AK023037,AK056924,AK292153,BC009112,DQ278870,NM_024809,NM_001143850,AC117503,CH471054 EAW98430,BAB14370,BAG51827,BAF84842,AAH09112,ABB90562,Q96GX1,NP_079085,NP_001137322 Hs.167165 C12orf38|FLJ12975|TECT2 tectonic 2|tectonic-2 protein-coding 1313033 TCTN3 tectonic family member 3 16357211,15489334,15164054,15146197,14702039,12975309,12477932,8889548,16385451 26123 NM_001143973,NM_015631,AL356632,CH471066,AI375376,AK075357,AK098295,AK128834,AK299141,AL050022,AW517317,AY359022,BC009494,BC061582,BC068449,BI561516,BQ005427,BU188435,BU742551,CN427798,CR613495,CR615067,DQ278872 NP_001137445,NP_056446,EAW49993,BAC11567,BAC05278,BAC87634,BAG61193,CAB43242,AAQ89381,AAH09494,AAH61582,AAH68449,ABB90564,Q6NUS6,CAI16768,CAQ07588,CAQ07589 Hs.438991 C10orf61|DKFZp564D116|TECT3 tectonic 3|tectonic-3 protein-coding 1344799 TDD testicular 17,20-desmolase deficiency 6994 1346610 TDG thymine-DNA glycosylase The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq] 1580863,2317355 16763556,18452947,18512959,19652917,19880517,20226869,20379614,20522537,10583946,9489705,14667819,8662714,11937636,19403629,19402749,19369898,19237606,18951877,18805789,18587051,18270339,17965616,17855402,17602166,17270163,17060459,17029639,16679534,16626738,16620772,16344560,15959518,15823533,15668625,15569683,15489334,15252450,15231748,12874288,12505994,12493755,12477932,15225156,15146197,11889051,11864601,11554300,11438542,9299239,8407958,8127859,6287922,1631061,10961991,18691969,20428781,20574454 2317355 6996 AC078819,AF545435,CH471054,AI004247,AI452763,AK295387,AK299832,AK303631,AK309792,AK311673,AK313234,AL710869,BC001307,BC010945,BC019925,BC037557,BC071714,BC104477,CB047650,CN274338,CR595551,DB162106,DN601672,DQ786320,NM_003211 Q05CX8,Q13569,Q3SX60,NP_003202,AAN16399,EAW97727,EAW97728,EAW97729,BAG58341,BAG61699,BAG64639,BAG36045,AAH19925,AAH37557,AAI04478 Hs.584809 G/T mismatch-specific thymine DNA glycosylase protein-coding 1352791 TDGF1 teratocarcinoma-derived growth factor 1 1580863 12925698,9013573,11857442,8006041,9576836,10070255,10493495,12649175,19082438,19035567,18312357,18089557,17941089,17925387,17720976,17291450,17030617,16954206,16951234,16344560,16176936,15340161,14584041,14581455,12919325,12682303,12477932,12052855,11909953,11485994,10393436,9876177,8543395,8314343,7860072,2792079,1882841,16169070,20126975,20549704,21055389,12073012,19386982,19421146,19727905,19732464,19853938,19874624,20128024,20379614,20385969,17207965,20629020 6997 NM_003212,AC104304,CH471055,M96955,AK313319,AU125451,BC022393,BC067844,CX781482,CX785985,X14253,CX755454,DA941183,NG_017049,NM_001174136 NP_003203,EAW64773,EAW64774,AAA61134,BAG36124,AAH22393,AAH67844,CAA32467,P13385,Q8TCC1,ACE87041,NP_001167607,ADQ32262 Hs.385870 CR|CRGF|CRIPTO|Cripto-1 cripto-1 growth factor|epidermal growth factor-like cripto protein CR1|teratocarcinoma-derived growth factor 1 protein-coding 1345274 TDGF2 teratocarcinoma-derived growth factor 2, pseudogene 11181995,10393436 22816 NG_001244,AC073065,CH471063,Y09998 EAW70879 CR-2|CRIPTO-2 pseudo 1347488 TDGF3 teratocarcinoma-derived growth factor 3, pseudogene The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq] 1580863 1882841,18835250,16954206,15772651 6998 NR_002718,AC000113,AF251549,AF251550,M96956,CH471120 AAB46353,AAG49538,AAG49539,AAA61135,P51864,EAX02658 Hs.592361 CR-3|CRIPTO|CRIPTO-3|TDGF1|TDGF2 pseudo 1350982 TDGF4 teratocarcinoma-derived growth factor 4, pseudogene 10393436 22815 NG_001243,AL590004,Y09997 CR-4|CRIPTO-4 pseudo 1354457 TDGF5 teratocarcinoma-derived growth factor 5, pseudogene 10393436 22814 NG_001242,AC100821,Y09996 CR-5|CRIPTO-5 pseudo 1352893 TDGF6 teratocarcinoma-derived growth factor 6, pseudogene 10393436,10393436 22813,22813 AC092991,NG_012350 CR-6|CRIPTO-6 pseudo 1342809 TDGF7 teratocarcinoma-derived growth factor 7, pseudogene 10393436,10393436 22812,100129080 AC011500,NG_012349 CR-7|CRIPTO-7 pseudo 1343478 TDH L-threonine dehydrogenase This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq] 1580863 19027726,12477932,12361482,11896452,3536927 157739 NR_001578,AF131216,AJ301562,AK057762,AY101186,AY101187,BC074983 CAC82738,BAB71562,AAM50036,AAM50037,Q8IZJ6 Hs.583896 FLJ25033|SDR14E1P pseudo 68531 TDO2 tryptophan 2,3-dioxygenase Tryptophan 2,3-dioxygenase (EC 1.13.11.11) plays a role in catalyzing the first and rat-limiting step in the kynurenine pathway, the major pathway of tryptophan metabolism.[supplied by OMIM] 1580863,2290313,2290190,2303721,1358595 8666386,14704851,19502010,19218188,18370401,16892178,16189514,16094384,15489334,15390107,14755447,12634647,12477932,11469796,11140838,2004780,19637229,19786962,17207965,20361220 2290313,2290190,2303721,1358595 6999 NM_005651,AC093830,CH471056,AK289418,AK307741,BC005355,BX647341,U32989 NP_005642,EAX04884,EAX04885,EAX04886,BAF82107,AAH05355,AAB08514,P48775,ACE87147,ACE86466,ADQ31785 Hs.183671 TDO|TPH2|TRPO TO|tryptamin 2,3-dioxygenase|tryptophan 2,3-dioxygenase|tryptophan oxygenase|tryptophan pyrrolase|tryptophanase protein-coding 1347185 TDO2L1 tryptophan 2,3-dioxygenase-like 1 7000 1320052 TDP1 tyrosyl-DNA phosphodiesterase 1 The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq] 17118488,17576665,17948061,15811850,15744309,12023295,17600775,18347181,18270339,17707402,17081983,16935573,16775218,16141202,15920477,15647511,15494395,15489334,15248776,15111055,14761185,14702039,12618186,12508121,12477932,12470949,12244316,11839309,11572945,21041670,10521354,8889548,17478428,19505854,19604089,19851285,20009512,20097655 55775 NM_018319,NM_001008744,NG_009164,AL137128,CH471061,DQ367843,AF182002,AF182003,AK001952,AK023514,AK093235,AK315549,AL832288,BC006083,BC015474,BC107877,BM661793,BU849335,BX161451,CR602214,CR615550,CR618058,CR622999 NP_060789,NP_001008744,EAW81414,EAW81415,EAW81416,ABC79301,AAF65623,AAF65624,BAA91997,BAG51203,BAG37927,AAH06083,AAH15474,AAI07878,CAD61915,Q32Q25,Q86TV8,Q9BRS7,Q9NUW8 Hs.209945 FLJ11090|MGC104252 tyr-DNA phosphodiesterase 1|tyrosyl-DNA phosphodiesterase 1 protein-coding 1343296 TDPX2 thioredoxin-dependent peroxide reductase 2 8496166,8188254 7002 NG_001201,AL161449,X72297 PAGB pseudo 1314584 TDRD1 tudor domain containing 1 This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq] 1580863 16712791,17474147,14702039,12477932,11279525,16385451 56165 NM_198795,AC022023,CH471066,AF285606,AK024735,AK122916,AK304331,AL833340,BC035010,BC063133,BQ882979,BX648664,CB136029 NP_942090,EAW49476,EAW49477,EAW49478,EAW49479,EAW49480,AAK31985,BAB14982,BAG53796,BAG65177,AAH35010,AAH63133,Q9BXT4 Hs.333132 CT41.1|FLJ21082 OTTHUMP00000020525|OTTHUMP00000020526|cancer/testis antigen 41.1|tudor domain containing protein 1|tudor domain-containing protein 1 protein-coding 1605585 TDRD10 tudor domain containing 10 16710414,15489334,12975309,12477932,20379614 126668 NM_001098475,NM_182499,AL162591,AL592078,CH471121,AK302144,AL713777,AY358195,BC044864,BC100895,BC100896,BC100897,BC100898 NP_001091945,NP_872305,CAH72850,CAQ10669,CAI16182,CAI16188,EAW53194,EAW53195,EAW53196,BAG63516,CAD28538,AAQ88562,AAH44864,AAI00896,AAI00897,AAI00898,AAI00899,Q5VZ19 Hs.387671 DKFZp434M202|RP11-61L14.3 tudor domain-containing protein 10 protein-coding 2292096 TDRD12 tudor domain containing 12 14702039,12787504,12477932,11441184,20383146 91646 NM_001110822,AC008736,AC008805,AB211063,AK023134,BC049000,BI769394 NP_001104292,BAD95490,Q587J7,AAI48520 Hs.646351 ECAT8|FLJ13072 ES cell associated transcript 8|ES cell-associated transcript 8 protein|tudor domain-containing protein 12 protein-coding 1320851 TDRD3 tudor domain containing 3 1580863 18664458,18632687,16381901,16344560,15489336,15489334,14702039,12477932,11329013,11256614,11230166,11076863,21172665 81550 AL359920,NM_030794,NM_001146070,NM_001146071,AL354764,AL512666,CH471124,AA004370,AK023578,AK024660,BC020604,BC030514,BC060876,BG191408,BG219444,BX537910,CR624827,DA440035,EU643838 NP_110421,NP_001139542,NP_001139543,CAH72280,CAH72281,CAH73999,CAH74000,EAW52079,EAW52080,EAW52081,EAW52082,BAB14950,AAH30514,AAH60876,CAD97894,ACC94142,Q9H7E2,CAL37786 Hs.525061 FLJ21007|RP11-459E2.1 OTTHUMP00000018485|tudor domain-containing protein 3 protein-coding 1352694 TDRD4 tudor domain containing 4 1580863 54513 Q9NUY9 NM_019038,AK001907 1316056 TDRD5 tudor domain containing 5 1580863 18519826,17081983,16710414,15489334,14702039,12477932,19536175,20379614,16344560 163589 NM_173533,AL160286,AL590987,AL691433,CH471067,AK092142,AK126889,AK127370,BC043368,BC065707,BC089387,BC130532,BC144058,BG771449,DA418635,DB073297,NM_001199085,NM_001199089,NM_001199091,NM_001199092 AAI44059,NP_775804,CAI15400,CAH73723,CAH73724,EAW91051,EAW91052,EAW91053,EAW91054,BAC03815,BAC86946,AAH43368,AAH89387,AAI30533,Q8NAT2,NP_001186014,NP_001186018,NP_001186020,NP_001186021 Hs.197354 FLJ34823|MGC163404|RP11-427G13.1|TUDOR3 tudor domain-containing protein 5 protein-coding 1314293 TDRD6 tudor domain containing 6 17215373,14702039,14574404,11181995,9610721 221400 NM_001010870,AL591242,CH471081,AF039442,AK125838,AK131455,BX648686,CR936792,EF185284,NM_001168359 NP_001010870,CAH73905,CAH73906,EAX04300,AAC18034,BAG54254,CAI45997,ABM69146,O60522,AAI72752,NP_001161831 Hs.656983 CT41.2|DKFZp781I1148|FLJ43850|NY-CO-45|TDR2|bA446F17.4 OTTHUMP00000016554|antigen NY-CO-45|cancer/testis antigen 41.2|tudor domain-containing protein 6|tudor repeat 2 protein-coding 1350621 TDRD7 tudor domain containing 7 737633,1580863 16713569,16189514,15489334,14603251,12477932,11903063,11527406,10727952 737633 23424 NM_014290,AL449464,AL512590,CH471105,AB025254,AK294488,AK301954,AK310227,AK314853,AL122110,AW268820,BC028694 NP_055105,CAI14933,CAH71605,EAW58843,EAW58844,BAA76379,BAG57710,BAG63369,BAG37370,CAB59271,AAH28694,Q8NHU6,ABM85047 Hs.193842 KIAA1529|PCTAIRE2BP|RP11-508D10.1|TRAP PCTAIRE2-binding protein|tudor domain-containing protein 7|tudor repeat associator with PCTAIRE 2 protein-coding 1315843 TDRD9 tudor domain containing 9 12477932,17554300,20414141,19308021,14702039,20549515 122402 AL132712,AL136001,AK093483,AK097429,AK097699,AK125978,AL833915,BC016796,BC033662,BC042804,BC128057,BG719020,BU430972,U56244,NM_153046 NP_694591,BAC04182,BAC05047,BAC05144,BAC86372,CAD38771,AAH16796,AAI28058,AAC25432,Q86WA0,Q8NDG6 Hs.21454 C14orf75|DKFZp434N0820|FLJ36164|HIG-1|MGC135025|NET54 hypoxia-inducible HIG-1|putative ATP-dependent RNA helicase TDRD9|tudor domain-containing protein 9 protein-coding 1322527 TDRKH tudor and KH domain containing 1580863 16344560,15955813,15489334,14702039,12477932,20877624,10767542,9373149,8125298 11022 NM_006862,NM_001083965,NM_001083964,NM_001083963,AF227634,AL589765,CH471121,AF119121,AF227192,AK056402,AK225160,AK226092,AK295948,AK303063,AK316279,BC022467,BC032690,CR601319,DA796638 NP_006853,NP_001077434,NP_001077433,NP_001077432,AAF68379,CAI17175,CAI17176,CAI17177,EAW53408,EAW53409,EAW53410,EAW53411,AAD30971,AAF36701,BAG51697,BAG58730,BAG64180,BAH14650,Q5SZR4,Q5SZR5,Q9NYV3,Q9Y2W6,AAI56178,AAI72470,ABM81748,ABM87751 Hs.144439 TDRD2 OTTHUMP00000015261|putative RNA binding protein|tudor and KH domain containing protein|tudor and KH domain-containing protein|tudor domain containing 2|tudor domain-containing protein 2 protein-coding 1351522 TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) 1580863 9869635,19410955,19015275,19002168,18775765,18177740,17081983,15140898,15016762,14762206,14702039,12861002,12565854,12477932,12376544,12061776,11751932,11136726,10518497,9889009,9199327,8921372,8396764,8253797,7795606,7642633,1851669,10934189,11358867,15146197,18579750,20379614,8423815,8441689 7003 NM_021961,AC013549,AC084859,AC107881,CH471064,M63896,X84839,AB209858,AI189919,AI199443,AK027342,AK075070,AK075176,AK075236,AL035973,AL117450,AL133574,AL833289,BC026959,BC115398,CR617889,DR000961,AK310928,BG720371,BU172369,CA420177,CN420966,NG_021302 NP_068780,EAW68520,EAW68521,AAB00791,BAD93095,AAI15399,P28347,Q59EF3 Hs.655331 AA|FLJ17970|NTEF-1|REF1|TCF-13|TCF13|TEAD-1|TEF-1 protein GT-IIC|transcription factor 13|transcriptional enhancer factor 1|transcriptional enhancer factor TEF-1 protein-coding 1344942 TEAD2 TEA domain family member 2 1580863 8702974,15489334,14702039,12477932,9889009,10518497,10934189,11358867,19913121,20628086,18579750,19324877,20368466 8463 NM_003598,AC010524,CH471177,AK093236,AK290736,AK300241,AL832240,BC007556,BC018803,BC051301,CR603452,X94440 NP_003589,EAW52469,EAW52470,EAW52471,EAW52472,EAW52473,BAC04104,BAF83425,BAG62008,AAH07556,AAH51301,CAA64214,Q15562,Q8NA25,ABM84089,ABM87459 Hs.515534 ETF|TEF-4|TEF4 TEAD-2|transcriptional enhancer factor TEF-4 protein-coding 1323117 TEAD3 TEA domain family member 3 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq] 1580863 9148898,16344560,15489334,15131259,14574404,12477932,11986313,10518497,10379887,9889009,12748276,16189514,11358867,18029348,12861002,18579750,19324877 7005 AL022721,AL033519,CH471081,AF142482,AK226144,BC010053,BC027877,BC091488,BQ719548,DA856821,X94439,NM_003214 NP_003205,CAD92500,CAD92501,CAD92502,CAD92503,EAX03835,EAX03836,EAX03837,EAX03838,AAD29052,AAH10053,AAH27877,AAH91488,CAA64213,Q71U35,Q7Z6U7,Q7Z6U8,Q7Z6U9,Q7Z6V0,Q96G15,Q99594 Hs.485205 DTEF-1|ETFR-1|TEAD5|TEF-5|TEF5 OTTHUMP00000016261|TEA domain family member 5|TEAD-3|Transcriptional enhancer factor TEF-5 (DTEF-1)|transcriptional enhancer factor 5|transcriptional enhancer factor TEF-5 protein-coding 1605719 TEAD4 TEA domain family member 4 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq] 8921372,8662936,18840614,18579725,17652751,15520314,12477932,11358867,10518497,9889009,9373149,8702974,8125298,16189514,16344560,12861002,18579750,19324877 7004 NM_003213,NM_201441,NM_201443,AC005911,AC125807,AC131234,CH471116,AK222947,AY101179,BC015497,BM464237,BX640921,U63824,X94438,BM555991,DA210894,DA886817 NP_003204,NP_958849,NP_958851,EAW88872,EAW88873,EAW88874,EAW88875,BAD96667,AAM89497,AAH15497,CAE45959,AAC50763,CAA64212,Q15561,Q53GI4,Q6MZR9,Q8NEV5,ABZ92031 Hs.94865 EFTR-2|MGC9014|RTEF1|TCF13L1|TEF-3|TEF3|TEFR-1|hRTEF-1B TEAD-4|related transcription enhancer factor 1B|transcription factor 13-like 1|transcription factor RTEF-1|transcriptional enhancer factor 1-related|transcriptional enhancer factor 3|transcriptional enhancer factor TEF-3 protein-coding 732236 TEC tec protein tyrosine kinase The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq] 1580863 19913121,20628086,7934162,19167335,19393603,18564921,18512796,15588985,15492005,15184383,14993283,14614854,12573241,12515866,12477932,12445832,12049818,11940595,11825908,11716489,11598012,11489907,11328862,11071635,11013262,10823839,10795735,10647781,10518561,10382746,9872994,9473212,9446655,9341160,9299487,9178903,8892607,8632917,8630736,8629002,8621063,7651724,7526158,2284097,18029348,18171525,15355990,19807924,19883687,20230531,20379614,20098747 7006 NM_003215,AC079118,AC098873,CH471069,U34367,BC101711,BC101713,BC143487,D29767 NP_003206,EAW93054,EAW93055,AAB60411,AAI01712,AAI01714,AAI43488,BAA06171,P42680,Q14219 Hs.479670 MGC126760|MGC126762|PSCTK4 tyrosine-protein kinase Tec protein-coding 1601877 TECPR1 tectonin beta-propeller repeat containing 1 14702039,12690205,12477932,10718198,20562859 25851 NM_015395,AC091654,CH236956,CH471091,AB037779,AK027072,AK057048,AK057618,AK075074,AK292996,AL117495,BC012529,BC053591 NP_056210,EAL23891,EAW76716,EAW76717,EAW76718,BAA92596,BAG51853,BAF85685,CAB55961,AAH12529,AAH53591,Q7Z6L1 Hs.632303 DKFZP434B0335|FLJ23419|FLJ90593 tectonin beta-propeller repeat-containing protein 1 protein-coding 1316735 TECPR2 tectonin beta-propeller repeat containing 2 18029348,12477932,9205841,20562859 9895 AL136293,AL137229,CH471061,AB002295,AB002327,AK127721,AK296395,AK299690,BC030791,BC136647,BC142667,BC142715,BC151230,NM_014844,BQ023338,NM_001172631 NP_055659,EAW81787,EAW81788,EAW81789,EAW81790,BAA20757,BAA20787,BAC87100,BAG59063,BAG61595,AAI36648,AAI42668,AAI42716,AAI51231,O15040,Q6ZS54,NP_001166102 Hs.195667 KIAA0297|KIAA0329 tectonin beta-propeller repeat-containing protein 2 protein-coding 733590 TECR trans-2,3-enoyl-CoA reductase Microsomal long and very long chain fatty acid elongation uses malonyl-CoA as the 2-carbon donor and consists of 4 sequential reactions. TER catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA (Moon and Horton, 2003 [PubMed 12482854]).[supplied by OMIM] 1298632,1580863 15847654,15489334,14702039,12482854,12477932,11042152,9653160,8944226 1298632 9524 CR456892,CR591334,CR593648,CR593809,CR597795,CR598034,CR598088,CR599545,CR600147,CR600367,CR601637,CR602089,CR603038,CR603158,CR604768,CR605774,CR607305,CR608404,CR610113,CR610457,CR610793,CR613202,CR615202,CR615497,CR617427,CR620530,CR625392,AC009004,AC010527,AC024585,CH471106,AF038958,AF038959,AF222742,AK001416,AK094087,AK299134,AK315412,BC000174,BC002425,BC005384,BC005952,BC007801,BC013881,BC034484,BG705196,BT007179,NM_138501 ACT64571,CAG33173,AAP35843,Q9NZ01,ABM86061,ACE87841,NP_612510,EAW84434,EAW84435,AAC39872,AAC39873,AAF32373,BAG50909,BAG52813,BAG61186,BAG37802,AAH00174,AAH02425,AAH05952,AAH07801,AAH13881,ABM82875 Hs.515642 GPSN2|SC2|TER glycoprotein, synaptic 2|synaptic glycoprotein SC2|synaptic glycoprotein sc2|trans-2,3-enoyl-CoA reductase protein-coding 1604717 TECRL trans-2,3-enoyl-CoA reductase-like 19913121,20628086,12477932,20379614 253017 NM_001010874,AC023110,AC023156,AK290606,AL833108,BC072463,BX647590 NP_001010874,BAF83295,CAI46109,AAH72463,CAI46063,Q5HYJ1,Q6IN47 Hs.227752 GPSN2L|MGC62104|SRD5A2L2|TERL OTTHUMP00000220145|glycoprotein, synaptic 2-like|steroid 5 alpha-reductase 2-like 2|steroid 5-alpha-reductase 2-like 2 protein|trans-2,3-enoyl-CoA reductase-like protein-coding 1320369 TECTA tectorin alpha The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq] 1599380,1599381,1580863 20739942,20947814,9590290,19005249,18575463,18022253,17661817,17431902,17136632,16718611,15319541,12746400,12162770,11333869,10987647,10196713,9949200,9718342,9503015,9150164,9106521,20142329 1599380,1599381 7007 NM_005422,NG_011633,AF055136,AP000646,AP000826,CH471065 NP_005413,AAC26019,EAW67516,EAW67517,EAW67518,O75443,AAI56466,AAI72509 Hs.248162 DFNA12|DFNA8|DFNB21 OTTHUMP00000195078|alpha-tectorin protein-coding 1314106 TECTB tectorin beta The genes for alpha-tectorin (MIM 602574) and beta-tectorin encode the major noncollagenous proteins of the tectorial membrane of the cochlea.[supplied by OMIM] 1580863 15489334,15164054,12477932,9079715,16385451,20379614 6975 NM_058222,AL391986,CH471066,AF312827,BC113497,BC113499 NP_478129,CAH73718,AAL12829,AAI13498,AAI13500,Q96PL2,ADR82948,EAW49542 Hs.348615 KIAA1560|MGC142057|MGC142059 beta-tectorin protein-coding 1606464 TEDDM1 transmembrane epididymal protein 1 127670 NM_172000,AL139344,CH471067,AJ515384,HC044647 NP_741997,CAI19843,EAW91123,CAD56348,Q5T9Z0,CBH30653 Hs.156977 EDDM9|Epdd1|HE9|RP1-223H12.2|TMEM45C epididymal protein 9|human epididymis-specific protein 9|putative membrane protein HE9|transmembrane epididymal protein 1|transmembrane protein 45C protein-coding 1345103 TEF thyrotrophic embryonic factor Thyrotroph embryonic factor (TEF), a transcription factor, is a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 7835883,16344560,15665112,15489334,15461802,14702039,12805554,12477932,11258795,10799536,10591208,9891058,8639829,1916262,20396431 7008 CR541827,DA243618,U06935,U44059,NM_001145398,NM_003216,AL008582,AL035659,CH471095,AB051442,AK091916,AK295595,AK314906,AL122101,BC021980,BC039258,BC042476,BX537848,CR456592,HM370396 CAG30478,CAG46626,AAA81373,AAB06497,Q10587,CAK54623,CAK54922,ABM92228,ABM84707,NP_001138870,NP_003207,CAI23516,EAW60430,EAW60431,BAB33325,BAG52441,BAG58485,BAG37419,AAH39258,AAH42476,CAD97856,ADM86749 Hs.181159 KIAA1655 thyrotroph embryonic factor protein-coding 1342531 TEK TEK tyrosine kinase, endothelial The TEK receptor tyrosine kinase is expressed almost exclusively in endothelial cells in mice, rats, and humans. This receptor possesses a unique extracellular domain containing 2 immunoglobulin-like loops separated by 3 epidermal growth factor-like repeats that are connected to 3 fibronectin type III-like repeats. The ligand for the receptor is angiopoietin-1. Defects in TEK are associated with inherited venous malformations; the TEK signaling pathway appears to be critical for endothelial cell-smooth muscle cell communication in venous morphogenesis. TEK is closely related to the TIE receptor tyrosine kinase. [provided by RefSeq] 1578525,1578527,1578531,1578533,1601487,1601489,1601493,1601494,1601496,634324,1601510,1601490,1601505,1580863,1578337,1578345 20519501,20602615,19167335,10766762,8382358,8980225,14665640,14749497,19515812,19487284,19351722,19339208,19223473,19186995,19116766,19082594,19079259,18996102,18807212,18675456,18593464,18570117,18519826,18425120,18425119,18401423,17901375,17728252,17724803,17704802,17562701,17513791,17504972,17446561,17327411,17322632,19922791,17258205,12419314,17035633,16978614,16978237,16956819,16895971,16830384,16756945,16723371,16614513,16458662,16457819,16157706,16049136,16037627,16020388,15985432,15893943,15893672,15817662,15802272,15781448,15769741,15746084,15536413,15377998,15370298,15340161,15297853,15242771,15210451,14991534,14991531,14726409,13130465,12887596,12878859,12816861,12731667,12711329,12665569,12609966,12477932,12427764,12138242,12107410,11967990,11866538,11824375,11733376,11513602,11397875,11080633,10995770,10557082,10521483,10369874,10051567,10022833,9764820,9723709,9710115,9660821,8980224,8980223,7835909,7833915,7829101,7783168,7545683,7478529,1312667,9204896,11689432,15542434,19888299,11470823,18269030,19340004,19421150,19424712,19451274,19543148,19576253,19615361,19674970,19689429,19733541,19875484,20026268,20054548,20056911,20099495,20164029,20227369,20379614,9632797,20191124,20348331,20098747 1578525,1578527,1578531,1578533,1601487,1601489,1601493,1601496,634324,1601510,1601490,1601505,1578337,1578345 7010 NM_000459,NG_011828,AL133411,AL355432,AL355433,CH471071,AB086825,AB208796,AK291775,AK294887,AK295043,AK308447,AW020953,BC035514,CA392256,DC322431,DC324016,EU826591,EU826592,H25908,L06139 NP_000450,CAI16055,EAW58571,EAW58572,BAC45250,BAD92033,BAF84464,BAG57981,BAG58094,AAH35514,ACF47627,ACF47628,AAA61139,Q02763,Q59HG2,Q8IV34,Q8IXB8,ABM83048,ABW03349 Hs.89640 CD202B|TIE-2|TIE2|VMCM|VMCM1 angiopoietin-1 receptor|hTIE2|p140 TEK|soluble TIE2 variant 1|soluble TIE2 variant 2|tunica interna endothelial cell kinase|tyrosine-protein kinase receptor TEK|tyrosine-protein kinase receptor TIE-2 protein-coding 732609 TEKT1 tektin 1 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq] 1580863 15489334,12029069,11606253,12477932,20379614,20442750 83659 NM_053285,AC034305,CH471108,AF357879,AK292818,AK304345,BC014599 NP_444515,EAW90284,EAW90285,AAL27695,BAF85507,BAG65189,AAH14599,Q969V4,ABM81705,ABM84864 Hs.462108 tektin-1 protein-coding 1322323 TEKT2 tektin 2 (testicular) This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq] 1580863 18227105,16710414,15489334,15340058,12477932,12029069,11751288,18029348 27285 NM_014466,AL138787,CH471059,AB033823,AF054910,AK313610,BC022005,BC035620 NP_055281,CAC21454,EAX07391,EAX07392,BAA89350,AAC09343,BAG36373,AAH35620,Q9UIF3,ABM82968,ABM82984,ABM86160 Hs.127111 TEKTB1|TEKTIN-T|h-tektin-t tektin-2|tektin-B1|testicular tektin B1-like protein protein-coding 1321573 TEKT3 tektin 3 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq] 1580863 15489334,14735490,14702039,12477932,11381029,9373149,8125298 64518 HC007328,NM_031898,AC005703,CH471108,AF334676,AK057390,AK223534,AK314327,BC031688 CBH19469,NP_114104,EAW89942,EAW89943,EAW89944,AAK15340,BAB71464,BAD97254,BAG36974,AAH31688,Q53EV5,Q9BXF9,ABM82722,ABM85905 Hs.414648 FLJ32828 OTTHUMP00000064926|OTTHUMP00000064927|tektin-3|testicular microtubules-related protein protein-coding 1604519 TEKT4 tektin 4 17207965,16189514,15815621,15489334,14702039,12477932 150483 NM_144705,AC097374,CH471219,AK097438,BC021716,CR596788,CR599791,CR606432 ADQ32428,NP_653306,AAX88873,EAX10701,EAX10702,AAH21716,Q8WW24 Hs.631517 MGC27019 tektin-4 protein-coding 2837580 TEKT4P1 tektin 4 pseudogene 1 727768 AC134878,NG_023015 pseudo 1605283 TEKT5 tektin 5 20379614,14702039,12477932 146279 NM_144674,AC007595,CH471112,AK057433,BC041081,BC130336,BC130338,HC007330 NP_653275,EAW85179,BAB71484,AAI30337,AAI30339,Q96M29,CBH19470,ADR83195 Hs.143519 FLJ32871|MGC163208|MGC163210 tektin-5 protein-coding 1348520 TELAB1 telangiectasia, benign 1 338411 1605097 TELO2 TEL2, telomere maintenance 2, homolog (S. cerevisiae) This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair. 20810650,20801936,20864032,17353931,18160036,11256614,18995830,17384638,16169070,15345747,14702039,12670948,12477932,11230166,11157797,9734811,20562859,20427287,17643375 9894 NM_016111,AE006467,AL031705,CH471112,AB014583,AK001786,AK302103,AL080126,AL137394,BC017188,BC028332,BQ446656,CR599116,DB494123 NP_057195,AAK61284,CAC37283,EAW85647,EAW85648,EAW85649,EAW85650,EAW85651,BAA31658,BAG50974,BAG63484,CAB45724,CAB70722,AAH17188,Q9Y4R8 Hs.271044 CLK2|DKFZp434A073|FLJ10924|KIAA0683|TEL2 protein clk-2 homolog|telomere length regulation protein TEL2 homolog protein-coding 1322097 TENC1 tensin like C1 domain containing phosphatase (tensin 2) The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq] 19895840,16951145,17190795,19194507,17006924,16713569,15817639,15117958,12606711,12477932,12470648,11792844,10470851,20678486,20069572,19440389,19747564 23371 NM_198316,NM_015319,NM_170754,AC068888,CH471054,AB028998,AF417490,AF518728,AF518729,AK131320,AK172747,AL137564,BC054099,BC110854,BC129828,BC129829,BC131503,BC142668,BC142712,BC150259,BX647126,CA306931,CR607439,CR614736,CR936725 NP_056134,NP_736610,EAW96658,EAW96659,EAW96660,NP_938072,BAA83027,AAL14641,AAN03866,AAM74225,BAG54765,BAD18734,CAB70815,AAH54099,AAI10855,AAI29829,AAI29830,AAI31504,AAI42669,AAI42713,AAI50260,CAH56176,Q63HR2,Q6ZMJ1 Hs.6147,Hs.343334 C1-TEN|C1TEN|DKFZp686D13244|FLJ16320|KIAA1075|TNS2 C1 domain-containing phosphatase and tensin homolog|tensin 2|tensin like C1 domain-containing phosphatase|tensin-2|tensin-like C1 domain-containing phosphatase protein-coding 736009 TEP1 telomerase-associated protein 1 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. [provided by RefSeq] 1580863 12135483,10810353,7876352,19329795,18938767,18676680,17848914,16713569,14606063,12918126,12477932,11942411,11029039,10597287,10551828,9837921,9403057,9389643,9020079,20800603,20937264,21048031,19913121,20628086,15701761,19170196,19625176,19692168,19766477 7011 NM_007110,AL355075,CH471078,AB209669,AK303307,BC126107,BC143812,BC143815,BX640983,U86136 NP_009041,EAW66475,BAD92906,BAG64378,AAI26108,CAE45993,AAC51107,Q59EZ2,Q99973 Hs.508835 TLP1|TP1|TROVE1|VAULT2|p240 TROVE domain family, member 1|p80 telomerase homolog|telomerase associated protein 1|telomerase protein 1|telomerase protein component 1 protein-coding 1602955 TEPP testis, prostate and placenta expressed 14652002,12477932 374739 NM_199046,NM_199456,AC010543,CH471092,AY363222,AY363223,BC104458,BC104459,BF980073,BX647108 NP_950247,NP_955535,EAW82959,EAW82960,AAR18688,AAR18689,AAI04459,AAI04460,Q6URK8 Hs.132976 MGC129930|MGC129931 testis, prostate and placenta-expressed protein|testis/prostate/placenta-expressed protein protein-coding 1353130 TERC telomerase RNA component Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq] 2291968,2291974,2291964,2291967,2291975,2291972,2291970,2291966,2298557,2291986,2291969,2291973,2291965,2291971 19389503,19191295,19147845,19106100,19095616,18950640,18936525,18931339,18683270,18635888,18632625,18593932,18500353,18054989,17959928,17940095,17936651,17889662,17889661,17640862,17625368,17465827,17395830,17150918,17150759,17098743,16990594,16332973,16319170,16284252,16170363,16047476,16036112,15921388,15849264,15793301,15753647,15613268,15481329,15381700,15339688,15329831,15319288,15098033,14981093,14532990,12972604,12918126,12676774,12661034,12586348,12525685,12514136,12507925,12496479,12384594,12174094,12135483,12090986,12083802,11942411,11788719,11574891,11511096,10983983,10973255,10721988,10591218,10458601,9546436,9143511,8602368,7544491,15749017,20554853,20885959,20937264,12477932,19656952,19760749,19880826,19915151,19942288,20009881,20056641,20121548,20139977,20148555,20193234,20193600,20421499,20619302 2291968,2291974,2291964,2291967,2291975,2291972,2291970,2291966,2298557,2291986,2291969,2291973,2291965,2291971 7012 NR_001566,AC078802,AF047386,AF221907,U85256,U86046,BC128029,NG_016363 Hs.436182 SCARNA19|TR|TRC3|hTR miscrna 1323104 TERF1 telomeric repeat binding factor (NIMA-interacting) 1 This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq] 1580863,2317221,2317222,2317220 9130722,12768206,11971978,15007108,16880378,7502076,16166375,11313893,19265708,19164295,18676680,18625707,18397896,18347021,18221737,18202258,18178559,17848914,17765874,17694070,17681636,17561506,17081983,17020976,16786598,16756990,16647572,16421973,16169070,15792519,15632001,15608617,15389875,15383534,15316005,15231748,15231715,15133513,15100233,14966275,14715659,14702039,12915656,12667345,12530079,12477932,12135354,16344560,16275645,12080061,12007281,11943150,11854288,11813863,11744712,11739745,11738049,11701125,11545737,11375976,10988299,10913111,10669743,10581025,9822378,9739097,9480811,9391075,9326950,9002672,8614633,8606777,1406665,15181449,11751684,16358369,11802774,11327863,11454873,15229185,15314656,15380063,17629495,18761675,19170196,19596237,19625176,19692168,19746267,19766477,19773453,19817957,19887064,20056641,20056655,20159592,20160025,20549820,9034193,20127252,19596784,19797051,20937264,21048031,20811636,20936779 2317221,2317222,2317220 7013 NM_017489,NM_003218,AC022893,CH471068,EU088287,U70993,AF003001,AI218408,AK123410,AK292529,AY576778,BC014646,BC029378,BC071975,BF056993,CX788828,U40705,U74382,X93511,DA658766 NP_059523,NP_003209,EAW86990,EAW86991,EAW86992,EAW86993,EAW86994,ABV02580,AAB17975,AAB81137,BAF85218,AAT81150,AAH29378,AAB54036,AAB53363,CAA63768,P54274,Q5QGN5,ABM83499,ABM86715 Hs.442707 FLJ41416|PIN2|TRBF1|TRF|TRF1|hTRF1-AS|t-TRF1 NIMA-interacting protein 2|TTAGGG repeat-binding factor 1|telomeric protein Pin2/TRF1|telomeric repeat binding factor 1|telomeric repeat binding protein 1|telomeric repeat-binding factor 1 protein-coding 1347709 TERF1P telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 348567 NG_003158,AL050303,AL109748,AL163204 TERF1P pseudo 3051183 TERF1P2 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 2 646359 AP005212,NG_023014 pseudo 3051190 TERF1P3 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 3 646316 AC006572,NG_023005 pseudo 3418557 TERF1P4 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 4 648283 AL445306,NG_022613 pseudo 1322035 TERF2 telomeric repeat binding factor 2 This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq] 1580863 14565979,14513051,12915884,12768206,12702777,12530079,12477932,12417987,11971978,11938440,11923537,11577237,11545737,11112778,10984620,10850490,10669743,10570139,10226653,9476899,9326951,9326950,8614633,15893730,19596784,19797051,20937264,21048031,12181313,17395247,15007108,17499040,10338214,18029348,10888888,15181449,16880378,16166375,17055345,19287395,19285750,18812185,18761675,18676680,18621559,18593705,18468965,18309533,18202258,18197706,18178559,18056407,18025071,17848914,17681636,17670947,17081983,17052985,16964243,16786598,16647572,16223874,15735711,15665826,15632001,15608617,15520325,15489334,15383534,15316005,15314656,15302935,15292264,15265990,15229185,15100233,15005708,14749375,14741354,20061197,20655466,18212065,14690602,15149599,15657433,16606622,18422278,19170196,19375317,19398584,19399616,19596235,19596236,19625176,19651898,19692168,19716786,19766477,19773453,19783902,19817957,19996277,20028875,20056641,20200249,20201926,20407424,20549820,20127252,19363487,20811636 7014 BX090758,NM_005652,AC026464,CH471092,AF002999,BC024890,U95970,X93512 NP_005643,EAW83273,EAW83274,AAB81135,AAH24890,AAD00821,CAA63769,Q15554 Hs.63335 TRBF2|TRF2 TTAGGG repeat-binding factor 2|telomeric DNA-binding protein|telomeric repeat binding protein 2|telomeric repeat-binding factor 2 protein-coding 1320161 TERF2IP telomeric repeat binding factor 2, interacting protein 1580863 16964243,16189514,15838871,15498874,15489334,15383534,15302935,14702039,14565979,12768206,12477932,11545594,10888888,15316005,20061197,14690602,10850490,17055345,17499040,15100233,18029348,15181449,16880378,16166375,18922916,18580452,20032304,20622869,20622870,12845325,19596235,19651898,19766477,19773453,19844255,20039365,20056641,20407424,17207965,20937264 54386 NM_018975,AC025287,CH471114,AF250393,AF262988,AF289599,AK000669,AK298880,AK307901,BC004465,BC005841,BC016739,BC022428,BC078171,CR600658,CR601111,CR605991,CR612877,CR613478,CR626430,AA769291 NP_061848,EAW95616,EAW95617,EAW95618,AAQ14259,AAF72711,AAL55783,BAA91317,BAG60996,AAH04465,AAH05841,AAH22428,AAH78171,Q9NYB0,ADQ32745 Hs.301419 DRIP5|RAP1 RAP1 homolog|TERF2-interacting telomeric protein 1|TRF2-interacting telomeric RAP1 protein|TRF2-interacting telomeric protein 1|dopamine receptor interacting protein 5|dopamine receptor-interacting protein 5|hRap1|repressor/activator protein 1 homolog|telomeric repeat-binding factor 2-interacting protein 1 protein-coding 1346237 TERF2IPP1 telomeric repeat binding factor 2, interacting protein pseudogene 1 266627,644899 AC004019,NG_017137 pseudo 1353510 TERT telomerase reverse transcriptase Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq] 2291980,2291982,2291985,2291986,2291989,2291987,2291990,2291993,2291983,2291969,2291966,2291992,2298558,2298562,2298564,2291994,1580863 20139978,20700438,20677553,20053684,20509972,19877284,20127252,20453884,20454512,20456367,20478107,20658629,18836306,20438356,20642823,20642319,19674077,20620128,20621064,21160077,18719354,18288381,17392301,9887342,18358808,11432839,9288757,14991929,16043710,10449030,9454332,12135483,15632080,15060173,15189140,19578367,19578363,19559675,19558808,19513524,19414359,19405125,19380022,19375219,19369581,19369336,19360348,19301721,19287963,19286666,19285750,19272297,19272180,19270068,19265030,19255426,19214569,19209236,19194757,19188747,19177844,19151717,19147845,19106100,19105326,19015635,19015236,19012493,19010861,19010833,18997822,18978790,18958789,18952593,18938767,18931339,18922974,18843043,18835860,18829466,18822693,18820283,18818322,18816183,18813352,18799986,18795940,18776173,18765014,18729084,18717758,18714398,18708758,18701711,18684838,18683194,18676680,18664542,18644980,18636213,18635888,18632625,18616696,18586674,18584973,18584350,18564721,18562689,18546260,18535618,18522991,18519947,18511807,18505829,18466174,18460650,18460021,18451164,18451136,18438345,18437586,18435920,18425331,18414191,18413362,18409031,18398672,18380945,18374149,18374125,18363039,18358095,18348304,18343732,18339310,18293058,18292940,18285708,18276798,18261581,18223679,18222063,18204433,18203676,18201269,18197256,18184747,18158869,18084761,18078517,18069666,18063440,18059183,18059027,18057229,18054989,18042801,18042045,18038311,18037230,18029765,18027853,18021753,17996122,17991730,17978477,17974918,17961306,17960465,17942561,17936651,17896808,17875000,17855516,17852432,17848914,17827040,17785587,17726237,17713555,17712489,17705400,17681636,17673177,17671725,17662305,17657844,17656250,17644806,17641414,17630431,17625368,17621823,17611690,17609503,17565702,17548428,17537403,17534147,17487429,17481586,17465827,17462602,17460194,17460043,17433324,17417773,17410334,17395830,11932355,11916966,11896565,11896211,11884529,11859969,11855854,11850805,11788906,11788902,11788719,11751869,11748987,11701125,11517292,11322991,11279234,11274138,11191110,11191109,11029039,10835362,10333526,10224060,10197982,10029071,9988278,9973199,17391727,17383981,17373762,17364895,17360541,17344921,17325661,17296728,17274981,17267499,17267411,17264120,17233832,17211834,17204238,17198740,17197440,17177836,17175353,17172814,17141225,17134697,17077107,17060942,17060405,17041957,16990594,16979586,16951325,16939641,16937491,16919029,16890917,16877525,16861355,16843438,16830373,16810748,16794190,16786150,16785237,16772337,16734859,16714764,16708388,16708385,16688717,16685456,16673017,16641908,16627250,16619047,16619045,16614861,16613901,16575014,16565220,16554968,16525654,16517060,16507993,16490880,16479078,16465394,16460686,16449970,16426912,16412982,16405739,16398404,16388756,16373967,16372125,16354694,16344462,16326864,16288728,16286259,16264179,16237755,16234237,16205639,16202213,16179497,16172394,16170363,16135795,16120835,16094384,16061476,16047476,16036112,16020509,16010690,16002425,15994230,15989808,15928077,15900578,15885610,15867214,15857955,15849192,15843522,15837730,15817155,15816620,15814878,15809044,15808851,15792951,15788678,15781646,15746653,15741219,15710386,15679862,15655249,15645079,15629899,15621763,15608686,15595642,15569357,15545228,15528369,15516693,15492990,15485861,15477760,15381700,15371422,15371412,15371341,15368248,15367601,15326479,15308640,15268829,15263087,15226182,15215158,15202008,15201989,15199161,15198189,15190070,15168079,15158092,15138842,15112354,15099954,15096579,15094035,15082768,15073136,15055591,15053304,15044100,15010825,15004408,15001567,14981931,14961580,14767556,16093915,14744757,14743210,14719074,14719058,14716817,14693268,14688476,14654914,14654902,14646192,14612409,14612390,14606063,14585993,14570874,14568262,14562040,14562019,14532990,14513051,12970752,12952227,12942569,12939469,12939399,12939398,12937127,12918139,12918126,12917431,12915130,12915119,12912919,12904596,12893365,12887925,12869302,12843187,12839970,12839932,12839571,12821782,12810068,12808100,12765058,12759234,12753708,12747968,12729798,12702554,12699629,12697823,12689947,12684697,12674332,12667285,12661034,12646176,12632490,12629597,12611896,12598334,12594176,12592364,12586632,12586360,12579337,12576506,12565858,12545159,12529350,12527915,12525188,12517770,12508351,12496479,12496279,12487901,12480519,12477932,12452048,12452037,12447689,12439749,12420227,12415959,12393449,12379283,12377759,12368310,12368233,12359427,12297462,12243757,12231532,12218171,12209957,12209700,12198499,12193655,12185596,12181331,12174361,12167716,12151407,12140282,12122013,12119560,12083802,12082628,12082607,12082531,12077343,12077335,12065682,12034742,12032846,12007187,12001122,11986943,11978176,11942411,11940318,11936586,11934015,9837921,9751630,9620778,9528864,9389643,9328464,9252327,9110970,9662195,15017382,20534141,20545697,20565943,19913121,20354136,20502709,20520826,20606038,20628086,20628624,20659312,20802237,20372845,20482774,17686286,20972438,10837221,11877056,11877080,16008894,16329824,17237767,17298749,17331439,17562265,18250061,18315899,18315900,18396642,18426652,19079992,19118576,19170196,19184104,19270495,19342980,19351506,19415276,19430894,19465454,19501078,19540557,19560862,19561322,19564073,19578747,19587531,19587703,19596972,19625176,19654303,19667936,19672873,19684619,19692168,19701182,19716824,19718948,19738429,19740745,19751963,19760749,19762557,19766477,19773453,19777057,19787269,19806010,19836008,19843528,19843693,19885561,19885612,19885868,19900100,19903097,19903789,19909010,19915151,19917726,19930867,19934306,19939248,19942288,19955392,19955841,20019239,20022961,20029802,20032382,20034955,20052289,20056641,20061363,20089117,20089118,20101243,20107884,20148555,20193600,20204286,20225759,20232301,20351177,20379614,20404094,20453000,20462933,20466886,20543847,20549820,19363487,20571066,20596673,20629177,20842112,15805468,19567472,20619095,20847058,20864512,20871597,20937264,21048031,21048121,21081471,21083788,17828505,19432820,20570912,20619302,20670406,20018236,20394835,20460502,20827769,20938050 2291980,2291982,2291985,2291986,2291989,2291987,2291990,2291993,2291983,2291969,2291966,2291992,2298558,2298562,2298564,2291994 7015 CS469081,CS542611,NM_198253,NG_009265,AB016767,AB018788,AC114291,AF097365,AF098956,AF114847,AF121948,AF128893,AY007685,CH471102,DQ264729,AB085628,AB086379,AB086950,AF015950,AF018167,BC062321,NM_001193376,HD121737 CAM33584,CAM91189,NP_937983,BAA74724,BAA78344,AAD12057,AAD12786,AAD17210,AAD24464,AAD30037,AAG23289,EAX08165,EAX08166,EAX08167,EAX08168,EAX08169,EAX08170,EAX08171,ABB72674,BAC11010,BAC11014,BAC11015,AAC51672,AAC51724,O14746,O94807,Q8NG38,Q9UBR6,Q9UNR4,Q9UNS6,Q9UQ24,AAC40212,AAI56389,AAI72541,NP_001180305,CBW46529 Hs.492203 EST2|TCS1|TP2|TRT|hEST2 telomerase catalytic subunit|telomerase reverse transcriptase|telomerase-associated protein 2 protein-coding 1603311 TES testis derived transcript (3 LIM domains) Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq] 20573277,20626849,18696217,19289703,18158903,17296370,15662727,15656790,15489334,15252854,14702039,12853948,12810672,12695497,12690205,12571287,12477932,11420696,11377796,10950921,10704826,9373149,9045675,8125298,12639940,18799041,20180808,18029348 26136 NM_152829,AC073130,AF260225,CH236947,CH471070,AF147329,AF245356,AF245357,AJ250865,AK021575,AK222840,AK291802,AK299104,AK300546,AK309324,AK310995,AK315644,AL050162,BC001451,BC040208,BC045580,NM_015641,CR612414,GQ423971 NP_056456,NP_690042,AAQ93367,AAG17635,AAG17636,EAL24364,EAL24365,EAW83494,EAW83495,EAW83496,EAW83497,AAG17612,AAG17613,CAB65119,BAB13846,BAD96560,BAF84491,BAH12951,BAH13301,BAG38011,CAB43302,AAH01451,Q53GU1,Q9UGI8,Q9Y423,ABW03803,ABW03495,ACV74338 Hs.592286,Hs.664957 DKFZp586B2022|MGC1146|TESS|TESS-2 testin protein-coding 1606266 TESC tescalcin 16189514,18321853,15489334,14661968,12809501,12477932,11696366,11145610,17717601,19345287,20060826 54997 NM_017899,AC026368,CH471054,AF443207,AK000614,BC015221,BE670015,DB452909,AI372964,AI910454,BQ949772,NM_001168325,NR_031766 NP_060369,EAW98098,EAW98099,EAW98100,EAW98101,AAL35615,BAA91288,AAH15221,Q96BS2,ABM85570,NP_001161797 Hs.525709 CHP3|FLJ20607|TSC OTTHUMP00000185561|calcineurin B homologous protein 3|tescalcin protein-coding 732889 TESK1 testis-specific kinase 1 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. [provided by RefSeq] 61764,1580863,1300048 12027893,8537404,18216281,15817463,12477932,11555644,11418599,11294912,10512679,10207045,11340065,17974561,20237496,9655398 61764 7016 NM_006285,AL357874,CH471071,AF452589,AF479317,AF507907,AF507908,AF507909,AF521045,AF521046,AF521047,AF521049,AK298907,BC011799,BC037561,BC038448,BC067130,CR623884,D50863 NP_006276,CAI13441,EAW58374,EAW58375,AAL49755,AAL84790,AAM50515,AAM50516,AAM50517,AAM77907,AAM77908,AAM77909,AAM77911,BAG61015,AAH38448,AAH67130,BAA09459,Q15569,Q8N6A2,Q8NFD9,Q8NFE1,Q8NFE2,Q8NFJ2,Q8NFJ3,Q8NFJ4,Q8TDC8,Q8WXD6,ABM84253,ABM87642 Hs.708096 dual specificity testis-specific protein kinase 1|testicular protein kinase 1|testis specific protein kinase 1 protein-coding 734237 TESK2 testis-specific kinase 2 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. [provided by RefSeq] 1580863 18029348,15489334,14702039,12477932,11418599,10512679,11555644,16344560,11340065,9655398 10420 NM_007170,AL359540,AL451136,CH471059,AB057597,AJ132545,AK294172,AK299269,AK302494,BC022194,BC033085,BX648441,DA990759,DB161528,AK027573 NP_009101,CAI21723,CAI21724,CAI13092,CAI13093,EAX06986,EAX06987,EAX06988,EAX06989,BAB62909,CAB41970,BAG51348,BAG57493,BAG61291,BAG63778,AAH33085,Q96S53,ACE87764,ACE87084 Hs.591499 OTTHUMP00000009094|dual specificity testis-specific protein kinase 2|testicular protein kinase 2 protein-coding 2301124 TESSP1 testis serine protease 1 12838346 360226 NM_001135086,AC092117,BN000124 NP_001128558,CAD67575,Q7RTY9 Hs.647401 TESSP1 TESSP-1|putative serine protease 41|testis serine protease 1|testis-specific serine protease 1 protein-coding 1602412 TESSP2 testis serine protease 2 14702039,12838346 339906 NM_182702,AC109583,CH471055,AJ544583,AK092703 NP_874361,EAW64787,EAW64788,EAW64789,CAD67566,Q7Z5A4,AAI40234 Hs.585127 TESSP2 putative testis serine protease 2|serine protease 42|testis serine protease 2 protein-coding 1606871 TESSP5 testis serine protease 5 12838346,12477932 377047 NM_199183,AC134504,CH471055,AK128390,AW137088,BC133695,BN000137 NP_954652,EAW64784,BAC87415,AAI33696,CAD68171,Q6ZR98,Q7RTY3 Hs.667712 TESSP5 putative testis serine protease 5|serine protease 45|testis serine protease 5 protein-coding 1322209 TET1 tet oncogene 1 11214970,19372391,19420352,18163421,15489334,15164054,12646957,12477932,12124344,16385451,18029348,19923888 80312 NM_030625,AL360177,AL513534,AL713888,CH471083,AB051463,AF430147,AK123436,AL713658,AL832334,AL832337,BC053905 NP_085128,CAH70220,CAI15118,EAW54299,BAB21767,AAM88301,CAD28467,AAH53905,Q8NFU7,AAI72365 Hs.567594,Hs.708977 CXXC6|FLJ10839|FLJ41442|KIAA1676|LCX|bA119F7.1 CXXC finger 6|CXXC-type zinc finger protein 6|leukemia-associated protein with a CXXC domain|methylcytosine dioxygenase TET1|ten-eleven translocation 1 gene protein|ten-eleven translocation-1 protein-coding 1606790 TET2 tet oncogene family member 2 20171768,19262599,16344560,14702039,12646957,12477932,19903679,19295549,19528370,19564637,19609284,19666869,19710701,19767753,19797729,19849974,19923888,19957346,20008299,20061559,20195608,20332099,20334914,20489055,20508616,19483684,19474426,19420352,19372255,19262601,10997877,20093295,20564319,20595094,20678218,20693430,21057493,21130701,20156304,20629097,20880116,21042320 54790 NM_001127208,NM_017628,AC004069,AC026029,CH471057,AB046766,AB075496,AI084057,AK000039,AK027819,AK055149,BC019007,BC110509,BC110510,BC150180,BC150201,BX640738,DA391215,DR000714,FM992369 NP_001120680,NP_060098,EAX06177,EAX06178,BAB13372,BAE45750,BAA90898,BAB55391,AAI10510,AAI10511,AAI50181,AAI50202,CAE45851,CAX30492,Q6N021 Hs.367639 FLJ20032|KIAA1546|MGC125715 OTTHUMP00000161869|OTTHUMP00000219510|OTTHUMP00000219511|OTTHUMP00000219513|methylcytosine dioxygenase TET2|probable methylcytosine dioxygenase TET2 protein-coding 2291813 TET3 tet oncogene family member 3 19420352,15815621,15489334,12477932,11181995,9455477,19923888,20379614 200424 NM_144993,AC073263,AC110801,CH471053,AB007861,AF466365,BC022243 NP_659430,AAX93057,EAW99702,BAA23697,AAO33386,AAH22243,O43151 Hs.516107 KIAA0401|MGC22014|hCG_40738 OTTHUMP00000202526|methylcytosine dioxygenase TET3|probable methylcytosine dioxygenase TET3 protein-coding 1323824 TEX10 testis expressed 10 737633 15489334,15342556,15334068,15231748,15164053,14702039,12880961,12477932,12429849,15960975,19596235,19615732 737633 54881 NM_017746,NM_001161584,AL353805,AL445214,CH471105,AA436854,AB060968,AJ420436,AK000294,AK055719,AK091669,AK298916,AK302619,AK303662,AK304869,AY598337,BC030652,BF981005,BP336313,CR593934 NP_060216,NP_001155056,CAI12537,CAI12538,CAI39742,CAI39743,EAW58927,EAW58928,EAW58929,BAB87845,BAA91062,BAG61022,BAG63864,BAG64661,BAH14271,AAT06748,AAH30652,Q9NXF1 Hs.494648 FLJ20287|FLJ31157|FLJ34350|RP11-208F1.2|bA208F1.2 testis expressed gene 10|testis expressed sequence 10|testis-expressed sequence 10 protein protein-coding 1354475 TEX101 testis expressed 101 737633 19886887,19153666,16516155,16388701,15489334,12477932,12975309 737633 83639 NM_031451,NM_001130011,AC005392,AC018758,CH471126,AA417291,AF241268,AF353396,AY014285,AY359077,BC001861 NP_113639,NP_001123483,EAW57187,EAW57188,EAW57189,AAK28327,AAK38662,AAK27310,AAQ89436,AAH01861,Q9BY14 Hs.97978 CT131|GTPR867|MGC4766|NYD-SP8|PRO1884|SGRG|TES101RP cancer/testis antigen 131|cell surface receptor NYD-SP8|scleroderma-associated autoantigen|spermatogenesis-related gene protein|testis expressed sequence 101|testis-expressed protein 101|testis-specific protein TES101RP protein-coding 1347600 TEX11 testis expressed 11 This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 16189514,18029348,16713569,14702039,12477932,11329013,11279525,20378615 56159 NM_031276,NM_001003811,NG_012574,AL139109,AL627071,AL627390,CH471132,AF285594,AK057391,AK057523,AK292471,BC036016,BG219070,BU929507 NP_112566,NP_001003811,CAI39956,CAI39957,CAI39958,CAI39959,CAI40154,CAI40155,CAI41495,CAI41496,CAI41497,EAX05331,EAX05332,AAK31973,BAB71465,BAB71520,BAF85160,AAH36016,Q5JQR1,Q8IYF3,ABM85353,ABW03716 Hs.121776 TGC1|TSGA3 OTTHUMP00000023482|OTTHUMP00000217425|testis expressed sequence 11|testis-expressed sequence 11 protein protein-coding 1351277 TEX12 testis expressed 12 This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq] 17207965,15489334,12477932,11279525,19773279 56158 HC007334,NM_031275,AP002884,CH471065,EF444956,AF285600,BC029506,BI561514 CBH19472,ADQ32444,NP_112565,EAW67188,ACA05953,ACA05955,AAK31979,AAH29506,Q9BXU0,EAW67187 Hs.524039 testis expressed sequence 12|testis-expressed sequence 12 protein|testis-expressed sequence 12 protein variant 2|testis-expressed sequence 12 protein variant 3 protein-coding 1352852 TEX13A testis expressed 13A This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq] 1580863 15489334,14531651,12477932,11279525 56157 NM_031274,CH471120,Z74477,AF285597,BC042547,BC108734,NG_016253,HC007336 NP_112564,EAX02754,CAI41996,AAK31976,AAH42547,AAI08735,Q9BXU3,ABZ92542,CBH19473 Hs.567543 MGC131984 OTTHUMP00000023771|OTTHUMP00000023772|testis expressed sequence 13A|testis expressed sequence 13a|testis-expressed sequence 13A protein protein-coding 1347068 TEX13B testis expressed 13B This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq] 15772651,14531651,11279525 56156 NM_031273,AL034399,CH471120,AF285598,NG_015975 NP_112563,CAI42072,EAX02700,AAK31977,Q9BXU2,AAI60037 Hs.333130 TGC3B|TSGA5 testis expressed sequence 13B|testis expressed sequence 13b|testis-expressed sequence 13B protein protein-coding 1313466 TEX14 testis expressed 14 This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq] 1580863 16344560,15489334,12711554,12477932,12471243,11279525,20056645,20176808,20378615 56155 DB086121,NM_001201457,NM_031272,NM_198393,AC005666,AC011195,CH471109,AF285601,AI243203,AK125896,AK128217,AK308299,AL834143,BC040526,BC045647,BG718877,BK000998,CB044007,CB050840 NP_001188386,NP_112562,NP_938207,EAW94437,EAW94438,AAK31980,CAD38856,AAH40526,DAA01359,Q8IWB6,ACT64555 Hs.390221 CT113 cancer/testis antigen 113|protein kinase-like protein SgK307|sugen kinase 307|testis expressed sequence 14|testis-expressed protein 14|testis-expressed sequence 14 protein-coding 1322630 TEX15 testis expressed 15 12704671,11279525,12477932,20378615 56154 NM_031271,AC009314,AC090281,CH471080,AF285605,AL133653,BC140934,BC141841 NP_112561,EAW63431,EAW63432,AAK31984,AAI40935,AAI41842,Q9BXT5 Hs.458316,Hs.571446 CT42|DKFZp434M2415 cancer/testis antigen 42|testis expressed sequence 15|testis-expressed sequence 15 protein protein-coding 4110019 TEX16P testis expressed 16, pseudogene 20210993 100499435 NG_023465,Z95126 pseudo 1603143 TEX19 testis expressed 19 14702039,12477932,18096721 400629 NM_207459,AC132938,CH471099,AK093086,BC016939,BC036191,BC050391,BC057820 NP_997342,EAW89767,BAC04049,AAH16939,AAH36191,AAH50391,AAH57820,Q8NA77 Hs.231897 FLJ35767 testis-expressed sequence 19 protein protein-coding 1603633 TEX2 testis expressed 2 16449791,15489334,14702039,12477932,11214970 55852 BC108279,BX648260,CR627433,AC016489,AC025362,CH471109,AB051525,AF163260,AF220182,AK000369,AK000758,AK091156,AK091214,AK314316,AL832371,AL834251,BC008896,BC033661,BC036672,BC040521,BC040522,NM_018469 AAI08280,CAH10519,Q2YDX6,Q7Z2T6,Q8IWB9,Q9NWL7,Q9NX99,Q9NZ39,ACE87831,NP_060939,EAW94210,EAW94211,BAB21829,AAQ13589,AAF67647,BAA91117,BAA91363,BAG52294,CAD38927,AAH33661,AAH40521,ACT64354 Hs.175414 DKFZp781G0721|HT008|KIAA1738|TMEM96 testis expressed sequence 2|testis-expressed sequence 2 protein|transmembrane protein 96 protein-coding 3436643 TEX21P testis expressed 21, pseudogene 20210993 441687 AA405121,AL161756,BU615745,EG327503,NR_033777 Hs.685242,Hs.727339 pseudo 1346300 TEX261 testis expressed 261 737633 16303743,15489334,14702039,12975309,12477932,9464256 737633 113419 NM_144582,AC007040,CH471053,AK056410,AK074840,AK315543,AL080223,AL832385,AY358783,BC010656,BC020251,BC128461,BC128462,BG260090,BI552105,CR592273,AK303594 NP_653183,EAW99783,EAW99784,EAW99785,BAG52013,BAG37921,AAQ89143,AAH20251,AAI28462,AAI28463,Q6UWH6,Q8IYX2,BAG64609 Hs.516087 MGC32043|TEG-261 OTTHUMP00000203492|protein TEX261|testis expressed sequence 261 protein-coding 1347640 TEX264 testis expressed 264 737633 16344560,17081983,15489334,15342556,14702039,12975309,12477932,9373149,8125298,17207965 737633 51368 NM_001129884,NM_015926,NR_024012,AC099050,CH471055,AF072733,AK023786,AK023997,AK222938,AK222949,AL832608,AY358972,BC001592,BC008742,BP252919,CR600828,CR610919,CR611126,DA894396 NP_001123356,NP_057010,EAW65146,AAD22397,BAG51249,BAD96658,BAD96669,AAQ89331,AAH08742,Q53GI2,Q9Y6I9,ADQ32325 Hs.517864 DKFZp451H0417|FLJ13935|SIG11|ZSIG11 OTTHUMP00000210979|OTTHUMP00000210980|putative secreted protein ZSIG11|testis expressed gene 264|testis expressed sequence 264|testis-expressed sequence 264 protein protein-coding 1342529 TEX28 testis expressed 28 19098318,17567994,16189514,15489334,15378397,12477932,9268643 1527 NM_001586,AC092402,CH471172,Z46936,Z68193,BC026183,DQ655913,U93720 NP_001577,EAW72754,EAW72755,CAI41959,CAI43243,AAH26183,AAB71379,O15482 Hs.672606 CXorf2|fTEX chromosome x open reading frame 2|testis-specific protein TEX28 protein-coding 1605740 TEX28P1 testis expressed 28 pseudogene 1 15378397,9268643 728447 NG_005787,AC092402 pTEX pseudo 1604858 TEX28P2 testis expressed 28 pseudogene 2 16382448,15378397,9268643 653363 NG_005788,AC092402,Z68193 CXorf2B|pTEX pseudo 1606392 TEX9 testis expressed 9 16189514,15489334,12477932 374618 NM_198524,AC068726,AC084782,CH471082,AL832050,BC028119,CR621164,AK294960 NP_940926,EAW77500,AAH28119,Q8N6V9,BAG58034 Hs.511476 MGC40181 testis expressed sequence 9|testis-expressed sequence 9 protein protein-coding 1342593 TF transferrin The protein encoded by this gene is a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds 1 ion of ferric iron. The function of this encoded protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. In addition to its function in iron transport, this protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter/allergins from serum. [provided by RefSeq] 1601515,1601518,1601513,1601536,1601514,1601524,1601529,1601537,1601520,1601532,1580863 21049900,16564538,20708639,2874839,20880607,10931525,19290554,19254567,19250966,19228837,19219998,19176989,19165391,19110265,19084217,19021568,18977241,18835036,18830724,18813964,18795173,18654083,18597674,18509548,18442477,18395717,18344013,18307987,18257091,18245657,18097132,18067952,18045615,18029348,18022819,17980706,17976429,17728504,17711300,17640392,17601350,17573378,17496814,17206377,17192785,17119318,17116317,17047092,17011669,17008590,16740002,16538641,16497717,16373913,16339299,16335952,16331960,16300393,16288727,16199891,16169070,16085060,16047113,15975770,15924420,15892129,15698609,15648851,15634274,15536627,15489334,15466165,15327995,15319290,15271890,15214510,15214509,15111541,15084671,15060098,15042587,14980223,14760718,14757931,14702039,14645044,14643898,14614458,14580189,14567694,14523999,12951205,12942785,12939601,12884526,12819023,12626412,12617162,12477932,12473103,12459033,12458193,12450380,12223217,12210842,12207902,12175089,12165535,12145410,12135367,12111369,12044175,11940510,11920219,11903051,11800564,11785295,11749962,11725818,11703331,11702220,11606717,11445282,11436564,11297622,11110675,11027676,15880641,15229288,15292400,14718574,19583819,19545871,19515372,10029548,9803271,9760232,9609685,9570576,9373149,9358047,9312001,9272172,8499451,8125298,7498159,6953407,6833213,6690479,6585826,6322780,6268632,5927288,5711079,5610700,3858812,3786138,3678832,3436225,3106157,3057819,2780570,1932003,1851757,1809186,1602151,15525538,12522210,15252009,19913121,20410508,20534741,20574532,20587610,20628086,20659343,20817350,20064616,11208127,12857860,14630798,16354665,19281173,19572083,19650928,19670106,19693784,19698254,19761807,19828835,19838776,19852572,19856410,19916167,19917294,19921860,20029940,20066543,20096706,20113254,20150920,20164577,20188707,20215856,20379614,20397659,20413850,20444258,6457647,8889548,20052609,20371432,20615872,20118108,20447458 1601515,1601518,1601513,1601536,1601514,1601524,1601529,1601537,1601520,1601532 7018 FB751514,GM662864,NM_001063,AC080128,AC083905,AF058327,AF288144,AY308797,CH471052,DQ525716,M11372,M17611,M17614,M21569,M21570,X04600,AF118093,AJ252279,AK126941,AK222755,AK293842,AK295334,AK295419,AK303753,AK312094,BC020671,BC022262,BC045772,BC054870,BC059367,BX537660,BX648533,CR605799,CR936810,DQ923758,M12525,M12530,M26641,S95936,U88581,BU740589,DC352309,NG_013080,HH957975,HH957979 CAT02257,CAV33839,EAW79168,NP_001054,AAC63506,AAK77664,AAP45055,EAW79164,EAW79165,EAW79166,EAW79167,EAW79170,ABF47110,AAA61141,AAA61147,AAA61148,AAA61143,AAA61145,CAA28265,AAF22037,CAB96907,BAD96475,BAG57240,BAG58308,BAG58369,BAG64724,BAG35030,AAH20671,AAH59367,ABI97197,AAA61142,AAA61140,AAA61233,AAB22049,AAB97880,P02787,Q06AH7,Q53H26,Q9UHS1,EAW79169,CBX51251,CBX51253 Hs.518267 DKFZp781D0156|PRO1557|PRO2086 beta-1 metal-binding globulin|serotransferrin|siderophilin protein-coding 1605718 TFAM transcription factor A, mitochondrial This gene encodes a mitochondrial transcription factor that is a key activator of mitochondrial transcription as well as a participant in mitochondrial genome replication. Studies in mice have demonstrated that this gene product is required to regulate the mitochondrial genome copy number and is essential for embryonic development. A mouse model for Kearns-Sayre syndrome was produced when expression of this gene was eliminated by targeted disruption in heart and muscle cells. [provided by RefSeq] 20534741,20574532,20739229,17167045,16631115,16428295,16202542,16043643,15547250,15526033,15509786,15489334,15464268,12921794,12897151,12839966,12686611,12477932,12127986,12095695,12068295,11964388,11457459,9063738,7789991,3594571,2035027,1737790,1610904,15525513,8333869,18063578,19653005,19304746,19209188,19192634,19148128,19096125,18980857,18830724,18716221,18660489,18642640,18451773,18430995,18258228,18248889,18028422,17707600,17537576,17497594,17339235,17192785,20202876,20410300,16385451,19496804,19624753,19681768,19885567,19925850,20413850,20432700,20863902,20877624,20880607,20977898,20843780 7019 AC023170,CH471083,X64269,AB451241,AB451366,AK312558,BC018628,BC029815,BC104482,BC126366,BT019658,NM_003201,BT019659,CR407653,CR592676,CR594684,CR603240,CR611959,CR617172,CR621535,EU279428,M62810,HQ206066,HQ206067,HQ206068,HQ206069,HQ206070,HQ206071,HQ206072,HQ206073,HQ206074,HQ206075,HQ206076,HQ206077,HQ206078,HQ206079,HQ206080,HQ206081,HQ206082,HQ206083,HQ206084,HQ206085,HQ206086,HQ206087,HQ206088,HQ206089,HQ206090,HQ206091,HQ206092,HQ206093,HQ206094,HQ206095,HQ206096,HQ206097,HQ206098,HQ206100,HQ206101,HQ206102,HQ206103,HQ206104,HQ206105 NP_003192,EAW54171,EAW54172,EAW54173,EAW54174,EAW54175,CAA45562,BAG70055,BAG70180,BAG35455,AAH18628,AAI04483,AAI26367,AAV38464,AAV38465,CAG28581,ABX72056,AAA59849,Q00059,Q05D31,Q3SX57,Q6LES8,ADR83509,ADP91974,ADP91975,ADP91976,ADP91978,ADP91977,ADP91979,ADP91980,ADP91981,ADP91982,ADP91983,ADP91984,ADP91985,ADP91986,ADP91987,ADP91988,ADP91989,ADP91990,ADP91991,ADP91992,ADP91993,ADP91994,ADP91995,ADP91996,ADP91997,ADP91998,ADP91999,ADP92000,ADP92001,ADP92002,ADP92003,ADP92004,ADP92005,ADP92006,ADP92008,ADP92009,ADP92010,ADP92011,ADP92012,ADP92013 Hs.642966 MtTF1|TCF6|TCF6L1|TCF6L2|TCF6L3|mtTFA OTTHUMP00000019632|TCF-6|Transcription factor 6-like 2 (mitochondrial transcription factor)|mitochondrial transcription factor 1|mitochondrial transcription factor A|transcription factor 6|transcription factor A, mitochondrial protein-coding 1345496 TFAMP1 transcription factor A, mitochondrial pseudogene 1 12095695,10737800,8333869,2035027 260341 NR_001288,AC074389,AJ320516,CH236953,CV358951 Hs.534596 MTTF1|TCF6L1 pseudo 1352310 TFAMP2 transcription factor A, mitochondrial pseudogene 2 12095695 260340 NG_007345,AJ320517,AP001981 MTTF1|TCF6L3 pseudo 1321067 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of transcription that binds to a consensus DNA-binding sequence CCCCAGGC in the SV40 and metallothionein (MIM 156350) promoters.[supplied by OMIM] 1580863 12072434,8321221,1916817,8661133,12586840,19376641,19228880,19206157,19154347,19115315,19089912,19074833,18955504,18836445,18639284,18620802,18515748,18443366,18423521,18358093,18316341,18275040,18042070,18036196,17719138,17695722,17651731,17621592,17556657,17513613,17355223,17318229,17237224,17224907,17097614,16946713,16867219,16707488,16636674,16533807,16502414,16361535,16260418,16236267,16108032,15930016,15870067,15864740,15671555,15569994,15548692,15498833,15331612,15039486,14752511,14744778,14551210,14517991,12975361,12960147,12843180,12595566,12477932,12475396,12358602,12228234,12226108,12221107,12203368,12145340,11973333,11744733,11604514,11438643,10987820,10567358,10037142,9830047,9632747,9169421,8190633,3063603,2010091,1998122,1587861,7729426,12577067,20564234,20607706,18029348,20932315,20634891,20358615,11447109,19351721,19363595,19411194,19443578,19578371,19654299,19672266,19742317,19763255,20145123,20376207,8087843,20805990,20808827,20635357 7020 X52611,NM_001042425,NM_003220,NM_001032280,AL138885,CH471087,X77343,AK296737,BC017754,BC071713,CB990517,CR601719,CR604637,FJ794945,M36711,M61156,NG_016151 AAA02487,CAA36842,P05549,Q5TAV5,Q8N1C6,Q96SH0,Q96SH1,ABM82025,ABM85207,NP_001035890,NP_003211,NP_001027451,CAC38370,CAC38371,CAI20064,CAI20065,EAW55248,EAW55249,EAW55250,EAW55251,CAB59735,BAH12422,AAH17754,ACN93799,AAA35539 Hs.519880 AP-2|AP-2alpha|AP2TF|BOFS|FLJ51761|TFAP2 AP-2 transcription factor|AP2-alpha|OTTHUMP00000214240|OTTHUMP00000214243|activating enhancer-binding protein 2-alpha|activator protein 2|transcription factor AP-2-alpha protein-coding 1314875 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq] 1331350,1580863,1601544,1601543 20703240,20607706,17123722,16954217,16787706,16420676,16373396,16344560,15940393,15722186,15569994,15489334,15245963,15057523,14673213,14574404,12586840,12477932,12270648,12228234,12192491,11744733,11505339,11278660,10802654,9271117,8889548,8661133,7729426,17185054,12072434,12169688,7555706,19336370,19325541,19184334,18752453,18358611,17728669,17630431,17574780,17525748,12577067,20935630,16169070,16698963,19557161,19778525,20211142,20724581,20019683 1331350,1601544,1601543 7021 NM_003221,NG_008438,AJ278356,AL031224,AL049693,CH471081,Y09912,AK291172,AK313749,AU141084,BC037225,BU738725,X95694 NP_003212,CAC01130,CAB41305,CAI20235,CAB89563,EAX04355,EAX04356,EAX04357,CAA71047,BAF83861,BAG36489,AAH37225,CAA64990,Q92481,ABM82369,ABM85547 Hs.33102 AP-2B|AP2-B|MGC21381 AP2-beta|activating enhancer binding protein 2 beta|activating enhancer-binding protein 2-beta|transcription factor AP-2-beta protein-coding 1346626 TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq] 1331350,1580863 17848411,12072434,9113991,19458056,19130459,18443366,18042070,17947476,17875680,16867219,16636674,15700319,15569994,15548692,15489334,14565844,12833450,12801994,12586840,12490322,12477932,12228234,12226108,11859873,11780052,11773066,11744733,11095974,8661133,7891714,7846046,19443578,19671168,19798054,20629094 1331350 7022 NM_003222,AB041717,AF544986,AJ315934,AL121920,CH471077,AK301572,AK314272,BC035664,BC051829,U85658,X95693 NP_003213,BAC11805,AAN37906,CAC86997,CAC10334,EAW75532,BAG63065,BAG36933,AAH35664,AAH51829,AAC51305,CAA64989,Q8IWX4,Q92754 Hs.473152 AP2-GAMMA|ERF1|TFAP2G|hAP-2g activating enhancer-binding protein 2 gamma|estrogen receptor factor 1|transcription factor AP-2 gamma|transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)|transcription factor ERF-1 protein-coding 1347905 TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 17213182,16684505,11733187,12477932 83741 NM_172238,AL031224,CH471081,AY028376,DT221015,BC144200 NP_758438,CAD92558,EAX04354,AAK16926,Q7Z6R9,AAI66653 Hs.434107 TFAP2BL1 AP-2 like|AP2-delta|activating enhancer binding protein 2 beta-like 1|activating enhancer-binding protein 2-delta|transcription factor AP-2 beta (activating enhancer binding protein 2 beta)-like 1|transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1|transcription factor AP-2-beta-like 1|transcription factor AP-2-delta protein-coding 1352189 TFAP2E transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 737633,1580863 14636996,12477932 737633 339488 NM_178548,AC004865,AL157951,CH471059,AY326454,BC041175 NP_848643,CAI23520,EAX07409,AAQ91614,AAH41175,Q6VUC0 Hs.567844 AP2E|MGC49007 AP2-epsilon|activating enhancer-binding protein 2-epsilon|adaptor-related protein complex 2, epsilon subunit|transcription factor AP-2-epsilon protein-coding 1318080 TFAP4 transcription factor AP-4 (activating enhancer binding protein 4) Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM] 1580863 2833704,2123466,18818310,18052253,17081983,16344560,15616553,15489334,15302935,12477932,10438607,9482665,8786101,7933101,11171123,12663744,14645924,16540471,16924111,18480385,19505873,19615732,9931457 7023 NM_003223,AC004653,AC009171,CH471112,AB209146,AK309301,BC010576,BC039696,BU159415,CR541726,CR605422,CR610803,DA449763,S73885,X57435 NP_003214,AAC17116,EAW85320,EAW85321,EAW85322,BAD92383,AAH10576,CAG46527,AAB32235,CAA40683,Q01664,Q59GG3,Q6FHM5,ABM84543,ABM86219 Hs.513305 AP-4|bHLHc41 activating enhancer-binding protein 4|class C basic helix-loop-helix protein 41|transcription factor AP-4|transcription factor AP-4 (activating enhancer-binding protein 4) protein-coding 1351892 TFB1M transcription factor B1, mitochondrial The transcription of genes from mitochondrial DNA requires a mitochondrial RNA polymerase (see POLRMT, MIM 601778) and a DNA-binding transcription factor (see TFAM, MIM 600438). Transcription factor B1 (TFB1M) is a part of this transcription complex.[supplied by OMIM] 1580863 20877624,19417006,19681768,18063578,19096125,18980857,17557812,15684387,15489334,15110318,14574404,12897151,12532263,12496758,12477932,12068295,11809803,10810093,20843780 51106 NM_016020,AL139101,CH471051,AA405744,AF151833,AK289484,BC005183,BC017788,BC054007,BU849912,CR595073,NG_027528,CA430614,HQ206306,HQ206307,HQ206308,HQ206309,HQ206310,HQ206311,HQ206312,HQ206313,HQ206314,HQ206315,HQ206316,HQ206317,HQ206318,HQ206319,HQ206320,HQ206321,HQ206322,HQ206323,HQ206324,HQ206325,HQ206326,HQ206327,HQ206328,HQ206329,HQ206330,HQ206331,HQ206332,HQ206333,HQ206334,HQ206335,HQ206336,HQ206337,HQ206338,HQ206339,HQ206340,HQ206341,HQ206342,HQ206343,HQ206344,HQ206345,XR_110192 NP_057104,CAI20506,EAW47690,AAD34070,BAF82173,AAH05183,AAH17788,Q8WVM0,ABM82896,ABM86085,ADP92261,ADP92262,ADP92263,ADP92264,ADP92265,ADP92266,ADP92267,ADP92268,ADP92269,ADP92270,ADP92271,ADP92272,ADP92273,ADP92274,ADP92275,ADP92276,ADP92277,ADP92278,ADP92279,ADP92280,ADP92281,ADP92282,ADP92283,ADP92284,ADP92285,ADP92286,ADP92287,ADP92288,ADP92289,ADP92290,ADP92291,ADP92256,ADP92257,ADP92258,ADP92259,ADP92254,ADP92255,ADP92260,ADP92292,ADP92293 Hs.279908,Hs.655297 CGI-75|CGI75|mtTFB|mtTFB1 S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1|dimethyladenosine transferase 1, mitochondrial|h-mtTFB|h-mtTFB1|hTFB1M|homolog of yeast mitochondrial transcription factor B|mitochondrial 12S rRNA dimethylase 1|mitochondrial dimethyladenosine transferase 1|mitochondrial transcription factor B1 protein-coding 1316077 TFB2M transcription factor B2, mitochondrial 1580863 19417006,19624753,19681768,15489334,12897151,12068295,18063578,19096125,18980857,17557812,17031457,16710414,16344560,15684387,15526033,14702039,20877624,12532263,12477932,20410300 64216 NM_022366,AL356583,CH471148,AF529366,AK026314,AK026835,AK300238,BC003383,CK725134,DA038232 NP_071761,CAI16399,EAW77149,EAW77150,EAW77151,EAW77152,EAW77153,AAQ09600,BAB15441,BAB15566,BAG62006,AAH03383,Q9H5Q4,ABZ92047 Hs.726304 FLJ22661|FLJ23182|Hkp1|mtTFB2 HCV NS5A-transactivated protein 5|S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2|dimethyladenosine transferase 2, mitochondrial|h-mtTFB|h-mtTFB2|hTFB2M|hepatitis C virus NS5A-transactivated protein 5|mitochondrial 12S rRNA dimethylase 2|mitochondrial transcription factor B2 protein-coding 1315527 TFCP2 transcription factor CP2 1580863 8157699,18787404,18629613,18307033,17902044,16713569,16710089,16648487,16272261,15489334,12661759,12555245,12477932,12393799,11940654,11865070,11574690,11283204,11003662,10888618,10455131,9685356,9371597,8586452,8289393,8114710,8035790,7828600,1732747,16169070,20562859,20661472,11001930,16344560,16973241,17456737,18164103,19889475,19902333,20404171 7024 AAB29976 AC087884,AC139768,CH471111,AK291264,AK308087,BC003634,CR599664,M84810,U03494,U03495,NM_005653,AU133131,BX479302,NM_001173452,NM_001173453 NP_005644,EAW58174,EAW58175,EAW58176,EAW58177,EAW58178,BAF83953,AAH03634,AAA21324,AAA21325,AAB29976,Q12800,NP_001166923,NP_001166924 Hs.48849 CP2|LBP-1C|LBP1C|LSF|LSF1D|SEF|TFCP2C SAA3 enhancer factor|alpha-globin transcription factor CP2 protein-coding 1313494 TFCP2L1 transcription factor CP2-like 1 1580863 10644752,18004979,15815621,15489334,15471945,12477932,11073954,1173954,18029348,20661472 29842 BC064698,BM055156,AC013399,AC079988,CH471103,AF198488,AK311692,AL137740,NM_014553,BC020554 AAH64698,Q53RS7,Q5JV87,Q9NZI6,ABZ92231,NP_055368,AAX88871,AAY24072,EAW95250,EAW95251,AAF32275,CAI46212 Hs.156471 CRTR1|LBP-9|LBP9 CP2-related transcriptional repressor 1|CRTR-1|transcription factor CP2-like protein 1|transcription factor LBP-9 protein-coding 1346598 TFDP1 transcription factor Dp-1 This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X. 1580863 8405995,9190208,18687693,16135794,15863509,15536069,15489334,15203218,14618416,12607600,12477932,12150994,12029633,12004135,11331592,11042687,10540350,10082561,9704927,9501179,9027491,8846921,8832394,8816502,8755520,8413592,8039504,7958925,7958924,7760804,7739537,16189514,7892279,9780002,8896460,8816798,19995430,16360038,19738611,20379614,20513349 7027 NR_026580,NM_007111,AF550129,AL442125,CH471085,AK297114,AK298521,AK310401,AK313742,BC011685,BC036601,CD623680,CR603875,CR614715,CR616214,CR621830,L23959 NP_009042,AAN46090,CAI39787,CAI39788,CAI39789,EAX09216,EAX09217,EAX09218,EAX09219,BAG59621,BAH12805,AAH11685,AAA58440,Q14186,Q5JSB5,Q5JSB6,ABM83791,ABM87113 Hs.79353 DP1|DRTF1|Dp-1 DRTF1-polypeptide 1|E2F dimerization partner 1|E2F-related transcription factor|OTTHUMP00000018767|transcription factor Dp-1 protein-coding 1345068 TFDP1P transcription factor Dp-1 pseudogene 9027491 391158 U58192,AC092810,NG_009284 pseudo 1314075 TFDP2 transcription factor Dp-2 (E2F dimerization partner 2) 1580863 7784053,15489334,12927774,12477932,12036888,10090723,9689056,9501179,9368098,8755520,7739537,16189514,9027491,14702039,15489335,16344560,16360038,16482218,17207965,18316326,19738611,20383146 7029 NM_006286,AC112504,AC128648,AC133435,AY509596,CH471052,AK303181,AK303634,AK314786,AL080206,BC007976,BC013993,BC021113,CR592926,CR597951,CR613689,L40386,U18422,U35117,AC108679,AK096450,AW673504,BC040991,BX647881,DA321332,DC319314,NM_001178138,NM_001178139,NM_001178140,NM_001178141,NM_001178142 NP_006277,AAR89905,EAW78977,EAW78978,EAW78979,EAW78980,EAW78981,BAH13914,BAH14001,CAB45775,AAH21113,AAA69016,AAB60378,AAC50642,Q14188,Q9UG28,ABZ92192,BAI47157,NP_001171609,NP_001171610,NP_001171611,NP_001171612,NP_001171613 Hs.379018 DKFZp313O196|DP2|Dp-2|FLJ39131 OTTHUMP00000214071|OTTHUMP00000214072|OTTHUMP00000214074|OTTHUMP00000214123|OTTHUMP00000214124|OTTHUMP00000214250|OTTHUMP00000214253|OTTHUMP00000214255|transcription factor Dp-2 protein-coding 1353749 TFDP3 transcription factor Dp family, member 3 TFDP3 is a member of the DP family of proteins, which form heterodimers with E2F proteins (see E2F1; MIM 189971) and regulate transcription (Qiao et al., 2007 [PubMed 17062573]).[supplied by OMIM] 17062573,16418725,12477932,12097419,17632080 51270 NM_016521,CH471107,Z77249,AF219119,BC074762,BC117336,BC126361,NG_021355 NP_057605,EAX11773,CAI42694,AAF37562,Q5H9I0,ABZ92371 Hs.142908 CT30|DP4|E2F-like|HCA661|MGC161639 E2F-like protein|OTTHUMP00000024051|cancer/testis antigen 30|hepatocellular carcinoma-associated antigen 661|transcription factor Dp family member 3 protein-coding 1351703 TFE3 transcription factor binding to IGHM enhancer 3 TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types (Henthorn et al., 1991 [PubMed 1685140]).[supplied by OMIM] 1580863,1599384 17353931,19422821,19332055,18930356,18510571,18358634,18278810,18176180,17905124,17046750,16766266,16737956,15782069,15747097,15324660,12748276,12551947,12477932,11930005,11801598,11748221,11467950,11358836,11313885,11244503,10973944,10644981,10557285,9806910,9765209,9393982,8986805,8872474,8336698,2338243,2044953,18029348,1685140,1672758,11818452,11018012,20620589,20871214,19396149,19788626,19809274,20014561 1599384 7030 CR618971,X51330,X96717,NM_006521,AC146820,AF196779,BX572102,CH471224,X97160,X99721,AK295497,AK310095,AK313540,AL161985,BC001532,BC026027,NG_016297 CAA35714,CAA65478,P19532,Q5JU74,ABZ92029,ACE87202,ACE86523,NP_006512,CAI95779,EAW50711,EAW50712,EAW50713,EAW50714,CAA65800,CAA68061,BAG58417,BAG36317,CAI46207,AAH26027 Hs.725236 RCCP2|TFEA|bHLHe33 Transcription factor for IgH enhancer|class E basic helix-loop-helix protein 33|transcription factor E family, member A|transcription factor E3 protein-coding 1319997 TFEB transcription factor EB 1580863 2115126,17285572,15644781,15489334,15118077,14702039,14574404,12837690,12719541,12477932,10707962,9806910,8530024,18839057,19396149,19556463 7942 AJ535461,NM_007162,AL035588,AL365205,CH471081,AJ608786,AJ608787,AJ608788,AJ608789,AJ608790,AJ608791,AJ608792,AJ608793,AJ608794,AK095061,AK310063,BC006225,BC032448,CR595362,CR614783,M33782,AA235980,AK298390,NM_001167827 Q709A8,Q709A9,Q709B0,Q86WB1,ABZ92196,CAD59560,NP_009093,CAD92604,CAI22453,CAI22454,CAI22455,CAI95733,CAI95734,CAI95735,CAI95736,CAI95737,CAO72131,CAQ07961,CAQ07962,EAX04055,EAX04056,EAX04057,EAX04058,CAE77681,CAE77672,CAE77673,CAE77674,CAE77675,CAE77676,CAE77677,CAE77678,CAE77679,BAG52979,AAH06225,AAH32448,AAA36730,P19484,Q709A5,BAG60625,NP_001161299 Hs.485360,Hs.715310 ALPHATFEB|AlphaTFEB|BHLHE35|TCFEB|bHLHe35 OTTHUMP00000016379|OTTHUMP00000043540|OTTHUMP00000043541|OTTHUMP00000071325|OTTHUMP00000196419|T-cell transcription factor EB|class E basic helix-loop-helix protein 35|transcription factor EB protein-coding 735415 TFEC transcription factor EC 1580863 9256061,12853948,12690205,12477932,11818452,11467950,9806910,8336698 22797 NM_001018058,NM_012252,AC073141,AC096551,CH236947,CH471070,AK301479,AK313546,BC029891,BX538223,CR933605,D43945 NP_001018068,NP_036384,AAS07449,AAS02009,EAL24366,EAW83490,EAW83491,EAW83492,BAH13493,BAG36322,AAH29891,CAI45926,BAA21908,O14948,Q75KY0,Q75MG2 Hs.125962 TCFEC|TFECL|bHLHe34 OTTHUMP00000068193|OTTHUMP00000212947|TFE-C|class E basic helix-loop-helix protein 34|hTFEC-L|transcription factor EC|transcription factor EC-like protein-coding 1344671 TFF1 trefoil factor 1 Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq] 625375,2291996,2291999,2292003,2292004,2292010,2292005,2292012,2298572,2298570,2298573,2298569,2298571,2292002,1580863 2303034,9043862,15831516,19172695,19172291,19132993,18927283,18676680,18662686,18644870,18543253,18515572,18502057,18322525,17982272,17651883,17610997,17317669,17143957,16861234,16830362,16718800,16715141,16713569,16474375,16308573,16189514,16142316,16142311,15967118,15924415,15849833,15821928,15578191,15541729,15489334,15340161,15177868,15123808,15115253,14756547,14563942,12613926,12477932,12407144,12379766,12034770,10982763,10950923,10830953,10673290,9855711,9355742,9096235,9070946,8521850,8405856,6324130,3838275,3822834,3261981,3146413,3041593,2311759,2185238,1707960,9582279,16009131,15989967,15019994,15304487,15339660,15345777,15694343,10490106,21067798,20112343,20300195,18722547,18846421,19170196,19589871,19625176,19692168,19724895,19851296,20063012,20198315,20213275,16341674,20981699 625375,2291996,2291999,2292003,2292004,2292010,2292005,2292012,2298572,2298570,2298573,2298569,2298571,2292002 7031 NM_003225,AB038162,AP001623,AP001746,CH471079,X05030,BC032811,BQ083523,BU539534,M12075,X00474,X52003 NP_003216,BAB13729,BAA95532,EAX09569,CAA28695,AAH32811,AAA52402,CAA25155,CAA36254,P04155 Hs.162807 BCEI|D21S21|HP1.A|HPS2|pNR-2|pS2 breast cancer estrogen-inducible protein|breast cancer estrogen-inducible sequence|gastrointestinal trefoil protein pS2|polypeptide P1.A|protein pS2|trefoil factor 1|trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) protein-coding 731368 TFF2 trefoil factor 2 Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq] 2291999,1580863 8836141,9043862,19541923,19344006,19204726,19172695,19064997,17982272,17332476,17118693,16830362,16786324,16718800,16359755,16166422,16142316,15984970,15578191,15489334,15256384,15177883,17207965,15177880,15115253,15101998,14759512,13679442,12717829,12613926,12477932,12054609,10950923,10830953,10716671,10189055,9855711,9781055,9272936,9070946,9050913,8405856,7961636,7566098,2303034,1505966,11786503,20063012,16341674 2291999 7032 NM_005423,AB038162,AP001623,CH471079,U47292,AA307808,BC032820,BM817851,BM853946,X51698 NP_005414,BAB13730,EAX09570,AAB05397,AAH32820,CAA35995,Q03403,ADQ32849 Hs.2979 SML1|SP spasmolysin|spasmolytic polypeptide|spasmolytic protein 1|trefoil factor 2|trefoil factor 2 (spasmolytic protein 1) protein-coding 736458 TFF3 trefoil factor 3 (intestinal) Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq] 2291999,1580863 19528408,19238529,19172695,18979216,18682706,18676680,18506086,18502057,18353006,18326859,18258687,17762162,17216196,17018241,17008636,16830362,16410243,16278592,16166422,16142316,16142311,16110118,15733066,15665295,15645121,15578191,15515157,15489334,15340161,15083192,14968359,14690424,14637006,12663147,12613926,12477932,12395334,12006524,11837892,11235998,11193208,10950923,10830953,10051448,9855711,9070946,8940297,8833157,8641134,8346203,7718582,7669039,20112343,8454642,9043862,17217669,20499178,19170196,19625176,19692168,19758246,20063012,20237496 2291999 7033 AB038162,AP001623,AP001746,CH471079,U25657,AF432265,BC017859,BQ016069,L08044,L15203,NM_003226 BAB13731,BAA95531,EAX09571,EAX09572,AAA83628,AAL28111,AAH17859,AAA36766,AAA59981,Q07654,ABM82889,ABM86079,NP_003217 Hs.82961 HITF|ITF|P1B|TFI|hP1.B OTTHUMP00000109349|polypeptide P1.B|trefoil factor 3 protein-coding 1320255 TFG TRK-fused gene 1580863 12761501,7565764,16547966,16341674,16189514,16169070,15557341,15188455,14702039,12477932,12237775,11943732,11591653,10556217,9169129,16344560 10342 NM_006070,NM_001007565,AC069223,CH471052,AB097040,AB097041,AK093456,AK123588,AK127920,BC001483,BC009241,BC023599,BC041600,BE409447,BM746125,BT007428,CR456781,CR591931,CR598132,CR603441,CR616150,CR619391,CR623738,Y07968,BQ008360,DA704111,NM_001195478,NM_001195479,NG_027821 NP_006061,NP_001007566,EAW79813,EAW79814,EAW79815,EAW79816,EAW79817,BAC77393,BAC77394,BAG52721,AAH01483,AAH09241,AAH23599,AAH41600,AAP36096,CAG33062,CAA69264,Q05BK6,Q7Z426,Q7Z427,Q8TDJ5,Q92734,ABM83120,ABM86315,NP_001182407,NP_001182408 Hs.518123 FLJ36137|TF6|TRKT3 OTTHUMP00000214046|OTTHUMP00000214048|TRK-fused gene protein|TRKT3 oncogene|protein TFG protein-coding 1322916 TFIP11 tuftelin interacting protein 11 TFIP11 is a nuclear speckle-localized protein that may play a role in spliceosome disassembly in Cajal bodies (Stanek et al., 2008 [PubMed 18367544]).[supplied by OMIM] 1580863 11256614,11991638,19086053,18781068,18367544,17081983,16381901,15868102,15489336,15489334,15461802,15302935,12529303,12477932,11230166,11076863,11042152,10806191,10591208,19857462,20398908 24144 NM_012143,NM_001008697,CH471095,Z95115,Z99714,AF070662,AK025443,AK025739,AK298303,AK299964,AL050258,AL080147,BC011599,BC033080,BT007274,BX354919,CR620578,CT841511 NP_036275,NP_001008697,EAW59722,EAW59723,EAW59724,CAI17979,CAI17878,AAD20968,BAG60557,BAG61790,CAB43360,CAB45740,AAH11599,AAH33080,AAP35938,CAJ86441,Q8N523,Q9UBB9,CAL37965,CAK54393,CAK54692,ABM83177,ABM87848 Hs.20225 FLJ22086|NTR1|Spp382|TIP39|bK445C9.6|hNtr1 OTTHUMP00000198650|OTTHUMP00000198850|OTTHUMP00000198851|OTTHUMP00000198852|STIP-1|septin and tuftelin-interacting protein 1|tuftelin-interacting protein 11 protein-coding 1344553 TFP transferrin pseudogene 3678832,19084217 100129696 M22375,AC083905,NG_008673 TFP pseudo 1344546 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) This gene encodes a protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. The encoded protein is glycosylated and predominantly found in the vascular endothelium and plasma in both free forms and complexed with plasma lipoproteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been confirmed. [provided by RefSeq] 1578543,1578547,1580863 19913121,20628086,20519147,20523161,20140262,20431849,17196206,12193974,7598447,2271516,19065458,19411818,19401682,19277407,19244162,19238444,19169266,19132232,19017259,19016004,19012190,19007969,18977990,18695356,18690350,18677291,18600090,18419747,18327407,18310227,18217145,18180609,18067603,18045239,18029348,17951326,17931693,17890962,17762532,17704111,17702963,17469034,16246254,16113753,15892865,15886798,15845911,15817451,15604416,15489334,15467908,15351861,15340161,15339683,15307537,14656922,14610342,12893029,12871406,12818258,12787023,12540955,12482841,12477932,12428111,12408975,12270558,12195688,17180732,17082321,17003923,16879232,16765424,16516912,16488980,16431924,16380494,16344560,16335952,16270631,16261634,16247609,12117418,12038800,12028585,11864704,11848461,11816723,11776329,11776326,11772005,11697721,11693665,11686353,11460016,11380428,11166776,11057878,10996745,10922378,10859319,10856975,10391209,10348905,9867356,9252393,9242660,9199408,8639592,8327992,8104873,7841311,7706485,7498454,3492226,3422166,3024756,2927510,2553722,2452157,2002045,1993173,1558967,1353057,2781520,20088940,19350127,19467658,19630792,19631649,20002538,20062932,20128871,20444258,20453636,17207965 1578543,1578547 7035 NM_006287,NM_001032281,AB035127,AC007319,AC098485,AY263365,CH471058,M58650,M59499,S63486,AB209866,AF021834,AK130306,AK313562,AU136083,BC014332,BC015514,CA418214,CR626209,CR626671,J03225 NP_006278,NP_001027452,AAY14807,AAO89075,EAX10921,EAX10922,EAX10923,AAA59480,AAA59526,BAD93103,AAD01700,BAG36336,AAH15514,AAA52022,P10646,Q59EE5,ADQ31578 Hs.516578 EPI|LACI|TFI|TFPI1 OTTHUMP00000163472|OTTHUMP00000205424|OTTHUMP00000205429|OTTHUMP00000205431|anti-convertin|extrinsic pathway inhibitor|lipoprotein-associated coagulation inhibitor|tissue factor pathway inhibitor protein-coding 736798 TFPI2 tissue factor pathway inhibitor 2 724777,1580863 20537494,19435926,17372906,3276312,17352822,17208328,17138934,17023682,16965396,16641089,16580726,16303743,16247609,15932872,15685245,15592528,15489334,15467913,15231748,15221977,15183047,14983234,14970225,14702039,14678821,14623891,14525759,12921785,12881707,12876637,12853948,12787920,12757776,12738994,12690205,12632077,12606321,12477932,11945080,11840337,11834519,11342222,10496984,10026147,9548189,9445254,8945635,8661135,8555184,8159751,7896752,6884838,20347477,20335518,20530429,20377370,8914837,19288010,19212621,19103149,19081094,18810851,18480470,18401718,18097563,18053161,17558445,17464989,14558946,19102937,19571260,19902129,19936309,20113832,21036731,19763915 724777 7980 BC034155,CR606635,CR620167,AC002076,AF217542,AY044097,CH236949,CH471091,AK024817,AK075425,AK075427,AK092499,AK129833,AK313260,AY691946,BC005330,NM_006528,CR607142,CR607204,CR607266,CR608257,CR608970,CR609032,CR609544,CR609583,CR609584,CR610027,CR611193,CR611856,CR611954,CR612082,CR612450,CR612680,CR612745,CR613394,CR613633,CR613706,CR613785,CR613976,CR615191,CR615389,CR615468,CR615557,CR615838,CR616280,CR616517,CR616616,CR617098,CR617656,CR617744,CR618383,CR618532,CR618758,CR618958,CR619096,CR619294,CR619392,CR619684,CR619864,CR619951,CR590763,CR590890,CR591009,CR591590,CR591910,CR592097,CR592180,CR592379,CR592954,CR593290,CR593352,CR593377,CR593463,CR593630,CR593637,CR593701,CR593891,CR594133,CR594214,CR594306,CR594424,CR594855,CR594877,CR595232,CR595356,CR595520,CR596155,CR596690,CR596932,CR597321,CR597470,CR597697,CR597753,CR597838,CR597862,CR598381,CR598467,CR598933,CR599133,CR599406,CR599490,CR599758,CR600488,CR600559,CR600633,CR601201,CR601552,CR601800,CR602510,CR602629,CR603147,CR603433,CR603679,CR603850,CR604102,CR604628,CR605074,CR605264,CR605333,CR605727,CR606059,CR606219,CR606428,CR606533,CR620570,CR620705,CR621074,CR621115,CR621169,CR621703,CR621839,CR623265,CR623266,CR623399,CR623818,CR624658,CR624861,CR625090,CR625860,CR626074,CR626216,CR626611,CR626794,CR626846,D29992,L27624 NP_006519,AAS02022,AAK13254,AAK72693,EAL24140,EAW76808,EAW76809,EAW76810,EAW76811,BAC03906,BAG36070,AAU04568,AAH05330,AAH34155,BAA06272,AAA20094,P48307,Q8NAK6,Q8NE89,Q96QP2,ABM83459,ABM86670 Hs.438231 FLJ21164|PP5|REF1|TFPI-2 OTTHUMP00000208602|placental protein 5|tissue factor pathway inhibitor 2 protein-coding 733579 TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 12477932,10644725,10086727,17395368,17081983,17041757,16230350,16189514,15489334,16229834,17643375,19615732,17207965 29844 NM_013342,AC012314,CH471135,AF052052,AK310627,AK310647,BC001728,BC004281,BC007776,BI820344,BQ027375,CR590072 NP_037474,EAW72185,EAW72186,EAW72187,EAW72188,EAW72189,AAD45182,AAH04281,AAH07776,P0C1Z6,ADQ31711 Hs.590939 FB1|INO80F|amida INO80 complex subunit F|OTTHUMP00000071104|OTTHUMP00000194971|OTTHUMP00000194972|TCF3 fusion partner|amida, partner of the E2A protein-coding 1320887 TFR2 transferrin receptor 2 This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1580863,1599386 19913121,20587610,20628086,10409623,15319276,19254567,19250966,19019709,18762941,18565178,18450729,18353247,18245657,18083267,17956864,17847004,17298224,17202145,17182845,17042772,16932966,16893896,16706826,16634833,16493621,16085060,16054692,15987753,15894659,15863206,15836704,15785438,15749661,15521925,15486069,15319290,15317665,15084147,15015967,14702039,12921947,12704209,12681966,12667993,12656741,12531241,12477932,12406888,12393650,12150153,12139409,12134060,12130528,11675342,11358388,11313241,11027676,10802645,10748106,10638746,9799793,9465039,19759876,19292036,19729324,19787796,19819738,19820697,19828835,19862010,19924283,20096706 1599386 7036 DQ496110,AF067864,AF085928,AK000421,AK022002,BC142630,BC150192,BI917390,CR602135,CR611302,DR004213,NM_003227,NG_007989,AC099394,AF053356,CH236956,CH471091 EAW76506,EAW76507,EAW76508,EAW76509,EAW76510,ABF47099,AAD45561,BAA91153,BAB13951,AAI42631,AAI50193,Q9UP52,NP_003218,AAC78796 Hs.544932 HFE3|MGC126368|TFRC2 OTTHUMP00000215913|transferrin receptor protein 2 protein-coding 733275 TFRC transferrin receptor (p90, CD71) 2292016,2292018,2292028,2292024,2292027,2292036,2292017,2292021,2292026,2292022,2292023,2298574,2292020,2292025,1580863 19913121,20587610,20628086,20716799,1871153,6090955,19290554,19258483,19223469,19135902,19021568,18694648,18677382,18676680,18665828,18635001,18621559,18586377,15229288,14612438,18579154,18541582,18445768,18411250,18166587,18155160,18003730,17994011,17956864,17927572,17493600,17407154,17327328,17287727,17213182,17173037,17125792,17081065,17062801,16893896,16788758,16704960,16564538,16508012,16354665,16344560,16335952,16332734,16326028,16325581,16271988,16092918,16085060,15987753,15951569,15941956,15924420,15894659,15880641,15775751,15668490,15623846,15592455,15525538,15489334,15371488,15349772,15313461,14980223,14769051,14752097,14727087,14722085,14705946,14691533,12904899,12767055,12707725,12667138,12553165,12538733,12477932,12473103,12445428,12406888,12372835,12222675,12210842,12200453,12163483,12071581,12032198,11997026,11944994,11929045,11891802,11800564,11783942,11702220,11096344,10638746,10531064,10377239,10192390,9782058,9465039,9448136,9428630,9414644,9358047,9136890,9120267,8671324,8631371,8408022,8394993,7994765,7864799,7789520,7780197,6309000,6273413,6268632,6094009,3582362,3568132,3013873,3007223,2507316,2398066,2327986,2298808,2229063,1421757,1421756,1380674,15784911,9341758,10451539,15569681,11027676,17059402,20041272,12857860,14705953,17872946,17877204,19066835,19170196,19238537,19394251,19625176,19692168,19693784,19711434,19728552,19819738,19828835,19838776,19862010,19864458,19875448,19917294,20001236,20071291,20133674,20424473,20497464,19308738,20604729,2874839,20870579 2292016,2292018,2292028,2292024,2292027,2292036,2292017,2292021,2292026,2292022,2292023,2298574,2292020,2292025 7037 NM_001128148,NM_003234,AC024937,AF187320,CH471191,DQ496099,AB209254,AK291723,AK294758,AK309923,BC001188,BX537966,CK724857,CR595511,DA460386,DT219054,M11507,X01060 NP_001121620,NP_003225,AAF04564,EAW53670,EAW53671,EAW53672,EAW53673,ABF47088,BAD92491,BAF84412,BAH11872,AAH01188,CAD97930,AAA61153,CAA25527,P02786,Q7Z3E0,ABM83785,ABM87107 Hs.529618 CD71|TFR|TFR1|TRFR OTTHUMP00000208525|T9|TR|p90|transferrin receptor|transferrin receptor protein 1 protein-coding 735819 TG thyroglobulin 1580863,1600141 3016640,14718574,19509106,19416000,19404338,19240061,19194833,19034705,18755875,18656705,18636294,18631008,18566446,18514160,18385936,18271683,18243140,18166820,17911408,17902201,17671725,17644307,17550957,17526951,17278897,17244789,16679516,19438904,20486066,20573721,16646680,16477365,16421571,16403815,16344560,16271015,16260629,16230285,15785246,15769978,15579800,15579752,15562032,15272924,15070908,14764582,14633662,14557492,12973666,12819023,12804099,12709678,12679418,12477932,12477859,12387814,12022704,11935320,11916630,11581009,11294872,11124863,10636893,10524569,10487692,10448091,10199792,10049727,9492085,9287346,9186272,9006956,8797845,8615697,8530385,8269951,8094490,7793989,4043966,3971976,3967888,3681978,3595599,3211159,2991855,2914619,2760035,1939080,1639210,1371467,19438905,19633549,19730683,19776016,19837936,20089614,20173019,20215770,20353937,20379614,4006519,20182447,20864102,20960158,20972722 1600141 7038 NM_003235,AF080484,AF105687,AF170489,AF230666,AF230667,AF235100,AF237421,AF255396,AF305872,CH471060,X02749,AB209159,AK299197,AK303666,AK303667,AU141420,AU141607,AU141923,AU142151,BC127887,BC140933,U93033,X02154,X05615,NG_015832 Q9NYD9,Q9NYM1,Q59GF0,NP_003226,AAD50912,AAC95473,AAD51647,AAF64045,AAF71743,EAW92156,EAW92157,EAW92158,CAA26527,BAD92396,BAH12966,BAG64665,BAG64666,AAI27888,AAI40934,AAC51924,CAA26089,CAA29104,P01266 Hs.654591 AITD3|TGN thyroglobulin protein-coding 1352636 TGCT1 testicular germ cell tumor susceptibility 1 10655070 50830 1315219 TGDS TDP-glucose 4,6-dehydratase 1580863 17474147,19027726,15489334,15057823,12477932 23483 AL139318,NM_014305,AL359708,CH471085,AF048686,AJ006068,AK303439,AK313251,AY544125,BC005284,BC033675,CR606771 Q2TU31,CAI12084,NP_055120,CAI12411,EAX08940,EAX08941,AAD50061,CAA06840,BAH13961,BAG36061,AAT11156,AAH05284,AAH33675,O95455,Q05DQ3 Hs.12393 SDR2E1|TDPGD dTDP-D-glucose 4,6-dehydratase|growth-inhibiting protein 21|short chain dehydrogenase/reductase family 2E, member 1 protein-coding 736273 TGFA transforming growth factor, alpha Transforming growth factors (TGFs) are biologically active polypeptides that reversibly confer the transformed phenotype on cultured cells. TGF-alpha shows about 40% sequence homology with epidermal growth factor (EGF; MIM 131530) and competes with EGF for binding to the EGF receptor (MIM 131550), stimulating its phosphorylation and producing a mitogenic response.[supplied by OMIM] 1578553,1578554,1578555,1578628,1578629,1578630,1580863,1578721,2317471,2317476,2317483,2317473,2317470,2317486,2317490,2317468,2317472,2317963 19913121,20628086,20634891,20672350,20860222,20522558,14616544,12960509,12907656,12896876,12820957,12771184,12709435,12657625,12652527,12619035,12607604,12606307,12590602,12558814,12477932,12468378,12297049,12223352,12138086,12120215,11952158,11859273,11823465,11739402,11727256,11101516,10552925,10523832,10375383,10230395,10066034,9813060,9637529,11278323,2103501,10918572,10861448,12743035,19442892,19307027,19246968,19196314,19052740,18996102,18978678,18956930,18930083,18922903,18811692,18788876,18757723,18698632,18544636,18507100,18253818,18156207,18080773,18073139,18054376,17993868,17962208,17922051,17698969,17629209,17592292,17553928,17525275,17334078,17313741,17272867,16953426,16820093,16792897,16691197,16495466,16311697,16107719,15965977,15943034,15879109,15864136,15652357,15643916,15449618,15304500,15245434,15222785,15064961,15064403,15040026,18325497,8910478,8358733,8338831,8224876,8212535,8123596,8100397,8025160,7947554,7727772,7579819,6088071,3855503,3459638,2907605,2464748,2261437,2050136,1791840,1658709,1639032,1632509,1612477,1577411,11152476,9285829,17562274,18793775,19244201,19444471,19535569,19692652,19708171,19749156,19780938,19823173,19846666,19937600,20036421,20047592,20082468,20092031,20123220,20201926,20379614,20453000,20544801 1578553,1578554,1578555,1578628,1578629,1578630,1578721,2317471,2317476,2317483,2317473,2317470,2317486,2317490,2317468,2317472,2317963 7039 NM_001099691,AC005234,AC017084,AF075584,AF075586,AF123239,AF149100,AY325886,CH471053,K03221,M22440,M96868,AF149096,AF149097,AF149098,AK290151,AK309066,AK309220,AK312899,AY548763,BC005308,BT006833,K03222,NM_003236,X70340,M31172 NP_003227,NP_001093161,AAY14793,AAY14705,AAD12238,AAD12239,AAF13491,AAF06728,AAF06729,AAF06730,AAP97822,EAW99810,EAW99811,EAW99812,EAW99813,EAW99814,AAA61158,AAA52530,AAA79958,AAF05089,AAF05090,AAF05091,BAF82840,AAS83396,AAH05308,AAP35479,AAA61159,AAA61157,CAA49806,P01135,Q15578,Q6QBS1,Q9UE87,Q9UIS1,Q9UIS2,Q9UIS3,Q9UKM3,Q9UQ91 Hs.170009 TFGA OTTHUMP00000203300|OTTHUMP00000203301|OTTHUMP00000203345|OTTHUMP00000203352|protransforming growth factor alpha|transforming growth factor-alpha protein-coding 69095 TGFB1 transforming growth factor, beta 1 TGFB is a multifunctional peptide that controls proliferation, differentiation, and other functions in many cell types. TGFB acts synergistically with TGFA (MIM 190170) in inducing transformation. It also acts as a negative autocrine growth factor. Dysregulation of TGFB activation and signaling may result in apoptosis. Many cells synthesize TGFB and almost all of them have specific receptors for this peptide. TGFB1, TGFB2 (MIM 190220), and TGFB3 (MIM 190230) all function through the same receptor signaling systems.[supplied by OMIM] 1580863,2292211,2298921,1601595,2302090,2302088,2306735,2306740,2306734,2302103,2302105,2306739,2306737,2299005,2306738,2306282,2302086,1579781,1579756,1579762,1579765,1579766,1579767,1579769,1579770,1579771,1579772,1579773,1579774,1579775,1579776,1331520,1579777,1579778,1579779,1299323,731229,1579872,1579877,1579879,1579931,1579937,734904,737732,737733,1601552,1601579,1601583,1601550,1601560,1331525,737734,737735,1601556,1601559,1601561,1601551,1601553,1580959,1601563,1601581,1601586,4145112,4145116,4145136,4145140,4145276,4145278,4145113,4145125,2325017,4145129,4145270,4145272,4145277,2325019,4145120,4145141,4145142,4145279,4145143,4145144,4143443,4145294,4145114,4145115,4145121,4145132,2307220,2325020,4145133,4145137,4145139,4145293,4145297,4145127,2325018,4145122,4145299,4145273,4145291,2325015,4144796,4145138,4145295,4145292,2317641,1299231 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3045,19724928,19727403,19728040,19733294,19733878,19734317,19738092,19745160,19747910,19749460,19750484,19751964,19753334,19759128,19766114,19768112,19768163,19768696,19778283,19781301,19782287,19786738,19786804,19789190,19796538,19812599,19816956,19817957,19822523,19829006,19829035,19830740,19834456,19835575,19845895,19852794,19854106,19857272,19858036,19858184,19860911,19861314,19863607,19863608,19864245,19864455,19878580,19879772,19882211,19885568,19885573,19886734,19888474,19889475,19890996,19892918,19894308,19897194,19901516,19908229,19910030,19911703,19933216,19937589,19940030,19940507,19943923,19950605,19951597,19955655,19963138,19967654,19969188,19997821,19998449,20012233,20016783,20019669,20023176,20036843,20037158,20037209,20039825,20041033,20047981,20052600,20053797,20055790,20056178,20059631,20061380,20061995,20081262,20082482,20083094,20085599,20086175,20096948,20097948,20100616,20128678,20130650,20142324,20142847,20144876,20145137,20145925,20146266,20150362,20154716,20157775,20165854,20170971,20172396,20172853,20173430,20177758,20178607,20179236,20182440,20183799,20185928,20188863,20193474,20196115,20198308,20204402,20207982,20213229,20219685,20228065,20228669,20232138,20232305,20233420,20237496,20306668,20308003,20308061,20308542,20309626,20334523,20346360,20349130,20349216,20354825,20356380,20357999,20360039,20361250,20368328,20368424,20370995,20395963,20404426,20409029,20410122,20418110,20419805,20424473,20432436,20435363,20446778,20449615,20452036,20452482,20453000,20457266,20458825,20459371,20467172,20473875,20479942,20503287,20506050,20506678,20517890,20518656,20525719,20544801,20545903,20548127,2119582,2909528,8370410,20416077,20359544,20399617,19485899,19847669,19898961,20061511,20209104,20339548,20352126,20630504,20818498,20865036,20970781,21030067,21054789,19538467,20102559,20720212,17217840,18953895,19760097,20335639,20389311,20486867,20650890,20727350,20936779,20944123,20862427,20878063 2292211,2298921,1601595,2302090,2302088,2306735,2306740,2306734,2302103,2302105,2306739,2306737,2299005,2306738,2306282,2302086,1579781,1579756,1579762,1579765,1579766,1579767,1579769,1579770,1579771,1579772,1579773,1579774,1579775,1579776,1331520,1579777,1579778,1579779,1299323,731229,1579872,1579877,1579879,1579931,1579937,734904,737732,737733,1601552,1601579,1601583,1601550,1601560,1331525,737734,737735,1601556,1601559,1601561,1601551,1601553,1580959,1601563,1601581,1601586,4145112,4145116,4145136,4145140,4145276,4145278,4145113,4145125,2325017,4145129,4145270,4145272,4145277,2325019,4145120,4145141,4145142,4145279,4145143,4145144,4143443,4145294,4145114,4145115,4145121,4145132,2307220,2325020,4145133,4145137,4145139,4145293,4145297,2325018,4145122,4145299,4145273,4145291,2325015,4144796,4145138,4145295,4145292,2317641,1299231 7040 NM_000660,AC011462,AY059373,AY330201,AY330202,AY576687,AY576688,AY871232,AY871233,AY871234,AY871235,AY871236,AY871237,AY871238,AY871239,AY871240,AY871241,AY871242,AY871243,AY871244,AY871245,CH471126,CQ759646,X05839,AK291907,AK307742,AY820829,BC000125,BC001180,BC022242,BT007245,CR592182,CR601792,CR612251,M38449,X02812,HC919732,HC919943,AI304490,BP267938,DA935180,NG_013364,CS674262,CS805735 NP_000651,AAL27646,AAQ18641,AAQ18642,AAT77143,AAT77144,AAX59016,AAX59017,AAX59018,AAX59019,AAX59020,AAX59021,AAX59022,AAX59023,AAX59024,AAX59025,AAX59026,AAX59027,AAX59028,AAX59029,EAW57032,EAW57033,CAF32686,CAA29283,BAF84596,AAV71148,AAH00125,AAH01180,AAH22242,AAP35909,AAA36735,CAA26580,P01137,Q49IK8,Q49IL8,Q5PY19,Q671U8,Q671V1,Q7Z487,Q7Z488,Q86YU2,ACE87482,ACE86795,CBN73463,CBN73468,CAP12291,CAP40172 Hs.645227 CED|DPD1|LAP|TGFB|TGFbeta TGF-beta 1 protein|TGF-beta-1|latency-associated peptide|transforming growth factor beta-1 protein-coding 732522 TGFB1I1 transforming growth factor beta 1 induced transcript 1 20395114,18762808,10075738,15572661,9756887,17353931,9422762,7929412,18401422,17919607,17671518,17508020,17166536,16849583,16713569,16624805,16344560,16141357,15561701,15231748,14755691,14702039,12858356,12631731,12477932,12445807,12426580,12421567,12417722,12376363,12202987,12177201,12153727,12023963,11937715,11856738,11805099,11792840,11546764,11463817,11313252,11155740,10848625,10604475,10092676,9858471,9032249,1716619,11779876,12400158,10330411,11937718,18029348,19389829,19855388,20448481 7041 NM_015927,AC026471,CH471192,DQ309025,AB007836,AF116343,AK122975,AK313327,BC001507,BC001830,BC017288,BC032545,CR602627,CR603592,CR604915,CR604999,CR608741,CR608842,CR616164,CR617942,CR618728,NM_001042454,CR618748,CR621063,CR624726,DA097743,AA992124,NM_001164719 NP_001035919,NP_057011,EAW52126,EAW52127,EAW52128,EAW52129,EAW52130,ABB96286,BAA24799,AAD22552,BAG36132,AAH01507,AAH01830,AAH17288,AAH32545,O43294,NP_001158191 Hs.513530 ARA55|HIC-5|HIC5|TSC-5 androgen receptor coactivator 55 kDa protein|androgen receptor coactivator ARA55|androgen receptor-associated protein of 55 kDa|hydrogen peroxide-inducible clone 5 protein|transforming growth factor beta-1-induced transcript 1 protein protein-coding 730953 TGFB2 transforming growth factor, beta 2 731229,1579858,1579866,1579868,1579870,1579872,1579879,1579937,2302090,2298921,2302086,2292158,2302087,2302024,2302088,2302103,2302105,2302107 20734064,19438810,20875417,16227582,9611771,2119582,12958365,11157754,1333888,17192487,17960115,10092230,15896309,18223299,3322813,16891397,15944186,18431253,18039789,18358889,17217916,16943770,18078367,15955085,17999987,17401695,12411310,18080134,18049952,3457014,19453261,19258923,19249525,19212830,19062040,19031438,18694919,18505915,18498721,18384390,18348727,18292822,18174230,18043895,18040277,17703412,17679942,17651146,17611697,17532297,17453002,17431704,17201588,16998703,16885354,16778279,16608413,16467496,16260601,16210002,15816823,15695166,15489334,15389580,15290353,15247411,15113633,15009106,14702039,14679171,14510802,14507446,12911534,12802400,12772773,12706107,12607775,12545247,12489185,12477932,12420205,12064833,12062452,12060393,12060054,12021923,12015308,12011061,11991670,11895345,11796824,11795478,11716069,11528528,11488419,11241554,10861501,10457363,9493905,8106553,8093006,7513640,3476488,3226728,3162414,2850146,1764261,1641027,1631557,15857508,11278302,11483955,9675033,12867422,7852346,16463680,19444386,19913121,20485444,20585394,20587546,20628086,20628624,20634891,10433821,17827158,18563556,19161338,19472023,19572226,19710942,19834535,19959123,19965872,20059631,20134268,20142847,20201926,20237496,20503287,20630504,21106846 731229,1579858,1579866,1579868,1579870,1579872,1579879,1579937,2302090,2298921,2302086,2292158,2302087,2302024,2302088,2302103,2302105,2302107 7042 NG_027721,NM_001135599,NM_003238,AC096638,AY438979,CH471100,M87843,AB209842,AK021874,AK295671,AK296504,AK299839,AK313106,BC096235,BC096236,BC099635,BC099636,BX098793,M19154,Y00083 NP_001129071,NP_003229,AAR05442,EAW93326,EAW93327,AAA61162,BAD93079,BAG58529,BAG59137,BAG61703,BAG35929,AAH96235,AAH99635,AAA50404,AAA50405,CAA68279,P61812,Q59EG9 Hs.133379 MGC116892|TGF-beta2 BSC-1 cell growth inhibitor|G-TSF|TGF-beta-2|cetermin|glioblastoma-derived T-cell suppressor factor|polyergin|transforming growth factor beta-2 protein-coding 735686 TGFB3 transforming growth factor, beta 3 This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq] 625677,1579859,1579864,1579865,1579866,1579879,1579937,2298922,2302086,2292158,1625704,1580863 20485444,20572854,20587546,20628624,20634891,20672350,20734064,20497023,9140123,18243111,11157754,1333888,18505915,18156205,18039789,11158066,18078367,17401695,18080134,3457014,19628198,19453261,19336475,19231643,19212830,19107876,19062040,18799618,18698632,18498721,18480962,18293167,18174230,18049952,17673689,17671384,17272867,17225872,16930538,16781676,16778279,16549496,16247549,16210002,16043141,15924806,15896309,15639475,15247411,15155569,15017149,14702039,14679171,14659070,12911534,12772773,12733956,12729750,12652527,12651933,12607775,12508121,12489185,12477932,12432546,12410804,12221089,12171249,12168782,12062452,12060054,12021923,11969342,11850637,11821050,11776328,11754469,11488419,11384957,11382746,11374028,11341298,11199370,11166150,10457363,10187774,9872992,9683588,9250163,8886879,8819159,8106553,8093006,7962292,7951245,7796607,7493022,3226728,3208746,3164476,1875922,7852346,19432813,12358597,1326540,17827158,18950289,19161338,19328471,19396528,19651533,19656717,19700613,19897194,20082468,20083094,20142847,20170386,20237496,20408761,20237132 625677,1579859,1579864,1579865,1579866,1579879,1579937,2298922,2302086,2292158,1625704 7043 NM_003239,NG_011715,AF107885,AY140241,AY208161,AY386326,AY386327,AY386328,CH471061,M58524,X14885,AK122902,AK313564,BC018503,BT007287,BX417403,CR611616,EF560714,J03241,X14149 NP_003230,AAC79727,AAM96819,AAO13495,AAQ98616,AAQ98617,AAQ98618,EAW81249,AAA59193,CAA33024,BAG53791,BAG36338,AAH18503,AAP35951,ABQ59024,AAA61161,CAA32362,P10600,Q6LDJ6,Q6TV15,Q6TV16,Q8WV88,Q6TV14 Hs.592317 ARVD|FLJ16571|TGF-beta3 TGF-beta-3|transforming growth factor beta-3 protein-coding 1351420 TGFBI transforming growth factor, beta-induced, 68kDa This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq] 1580863,1599387,1599389,1304421 19913121,20628086,20863486,20724852,15805105,15790870,15780949,15712349,15623763,15564760,15531312,15489334,15372022,15302666,15223229,15179309,15177960,15111592,15059726,15013897,14767905,14767644,14702039,14701952,14597039,12940514,12911551,12782158,12719415,12704192,12673209,12586172,12499048,12477932,12454095,12400061,12386809,12379307,12270930,12034705,11927442,11923233,11867580,11866539,11741113,11685063,11501939,11413411,11297504,11024425,10967553,10913330,10865320,10837380,10681572,10660331,10425035,10328397,9799082,9780098,9727509,9497262,9373149,9061001,9054935,8136834,8125298,8077289,7738366,18425347,18359287,18354229,18332318,18298822,18290950,18259096,18249103,18245446,18097563,18078741,18068629,17982422,17982418,17980739,17909299,17893671,17846354,17765440,17653042,17378698,17327467,17317389,17013691,16947382,16900028,16797290,16767671,16672769,16670477,16652336,16636649,16541014,16453189,16440005,16434404,16368891,16344560,16329146,16329070,16087849,15885785,15838722,1388724,8024701,9463327,19461933,19433713,19303004,19255489,19145249,19019446,19001012,18752451,18728790,18636123,18615206,18568131,18560760,18470323,18465714,18427622,19948560,20458218,19505574,19822856,19956413,20161820,20360992,20421128,20664689,20680100,20806046 1599387,1599389,1304421 7045 NM_000358,AC004503,AC005219,AF035626,AF035627,AF035628,AF035629,AY149344,CH471062,AB209598,AK093916,AK094055,AK094581,AK222833,AK298603,AK303643,BC000097,BC004972,BC026352,BT009820,CR590452,CR597279,CR600461,CR607603,CR609674,CR619547,CR619677,CR621581,DA051240,M77349,NG_012646 NP_000349,AAC08449,AAC24944,AAB88695,AAB88698,AAB88696,AAB88697,AAN10294,EAW62198,EAW62199,EAW62200,BAD92835,BAG52785,BAG52805,BAG52893,BAD96553,BAG60787,BAH14005,AAH00097,AAH04972,AAP88822,AAA61163,Q15582,Q53GU8,Q59F63,ABM83104,ABW03491 Hs.369397 BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1 RGD-CAP|RGD-containing collagen-associated protein|beta ig-h3|kerato-epithelin|transforming growth factor-beta-induced protein ig-h3 protein-coding 733386 TGFBR1 transforming growth factor, beta receptor 1 The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 2302036,2299005,2302019,2306282,2298922,2302517,2302024,1601595,2302027,2302021,2302020,1579873,1579874,1579875,1579876,1579878,1579879,737663,1579872,1579927,1579929,1579931,1579937,1580863 19913121,20458730,20571025,20587546,20599261,20628086,20634891,20445748,20427239,20924066,16027725,20705955,20052600,15946939,20538960,20734064,21068203,19214138,19147499,19116361,19036501,19012493,19004027,18978678,18925687,18781618,18778720,18758450,18721526,18711258,18703712,18676680,18550062,18546940,18541723,18474728,18469808,18456797,18421475,18333754,18316594,18252868,18243111,18223258,18202754,18174246,18174230,18097622,18095342,17936924,17890272,17848956,17848193,17845732,17705854,17703412,17657819,17652900,17607123,17575241,17507611,17365852,17319955,17238135,19229971,12065756,1333888,14633705,8752209,11157754,11278251,18625725,12015308,9389648,9311995,9865696,11100470,1326540,19509225,19505916,19494318,19453261,19401691,19390964,19336370,19299629,19299112,19258923,19255252,17203972,17072348,16998703,16980081,16950395,16947635,16928994,16857807,16835936,16806156,16791849,16754747,16596670,16528739,16428477,16407286,16314481,16289162,15961557,15955593,15863158,15860866,15833881,15761153,15731757,15702480,15661740,15599934,15546867,15505640,15498571,15496141,15465036,15459392,15385056,15382067,15356634,15317461,15305380,15247277,15178549,15177479,15155736,15146427,15102771,15009106,14722617,14718519,14704634,14702039,14597484,14580334,14517293,12947057,12873459,12607775,12477932,12446693,12429842,12358857,12202987,12145287,12082094,12060054,12017275,12000714,11867510,11850637,11820800,11746979,11583628,11438668,11420127,11387212,11356828,11279102,11278302,11163210,11102446,10085121,10025408,9892009,9856985,9774674,9748228,9661882,9545258,9525694,9472030,9435577,9417915,9346908,9346894,9335505,9215638,9136927,9045666,8774881,8576253,8555189,8530343,8530052,8521960,8242743,8235612,7890683,7774578,7518616,1319842,18591668,7791754,10757800,15148321,14657019,10716993,9872992,9738003,14612425,7852346,15761148,20428796,12151385,15938776,17099224,17314099,17649947,17878231,18974388,19170196,19293232,19375841,19506300,19538729,19542084,19586667,19592635,19595713,19601999,19608716,19625176,19626999,19639490,19639654,19672284,19688145,19690145,19692168,19711426,19736306,19882361,19883511,19908237,19916025,19930569,19936899,19998449,20086175,20101143,20101206,20368424,20379614,20403997,20429896,20437058,20453000,20503287,8622651,8980228,20500843,20663871,15221015,19732720,21030067 2302036,2299005,2302019,2306282,2298922,2302517,2302024,1601595,2302027,2302021,2302020,1579873,1579874,1579875,1579876,1579878,1579879,737663,1579872,1579927,1579929,1579931,1579937 7046 GU143401,NM_004612,NM_001130916,NG_007461,AF035670,AF054598,AL162427,AY497473,CH471105,DQ383416,DQ383417,DQ383418,DQ383419,DQ383420,DQ383421,DQ383422,DQ383423,DQ383424,AJ420419,AJ619019,AJ619020,AK002171,AK129793,AK302059,AK302234,AL117597,BC038347,BC056247,BC071181,BX648917,CR607288,L11695,HB448229 ACZ58375,NP_004603,NP_001124388,AAD02042,AAC08998,CAI17140,AAR32097,EAW58905,EAW58906,ABD46753,CAF02096,CAF02097,BAG63449,BAG63588,AAH71181,AAA16073,P36897,Q5T7S2,Q6IR47,Q706C0,Q706C1,CAZ91468 Hs.494622 AAT5|ACVRLK4|ALK-5|ALK5|LDS1A|LDS2A|SKR4|TGFR-1 TGF-beta receptor type I|TGF-beta receptor type-1|TGF-beta type I receptor|activin A receptor type II-like kinase, 53kD|activin A receptor type II-like kinase, 53kDa|activin receptor-like kinase 5|serine/threonine-protein kinase receptor R4|tbetaR-I|transforming growth factor beta receptor I|transforming growth factor, beta receptor 1|transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)|transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)|transforming growth factor-beta receptor type I protein-coding 734332 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq] 1579875,1579879,1579925,1299231,1579872,1579927,1579928,1579929,1579930,1579931,1579934,1579936,1579937,1579939,1579940,1579941,1579933,2299005,2301065,2306282,2298922,2302517,2308865,1580863,1601591,1579923,1601598,1601599,1601623,1601116,1601593,1579926,1601601,1601627,1601600,1580959,2317498,2317499,2317501,2317502,2317500 20634891,19913121,20073064,20587546,20599261,20628007,20628086,19006214,18941508,18829577,18781618,18724388,18721526,18648910,18598696,18550062,18546940,18514338,18398939,18382895,18339844,18334936,18264665,18202754,18199825,18174230,18097622,18084123,18053089,18043895,17985359,17950544,17903302,17875924,17845732,17692120,17680270,17676583,17676485,17653092,17652900,17637743,17634290,17566598,17562261,17560608,17470566,17456004,17427197,17418587,17365852,11157754,18453574,7852346,1333888,18243111,1326540,10092230,12015308,17878231,9865696,11100470,19639654,19601999,19542084,19533785,19453261,19434696,19424605,19366699,19356148,19351817,19339270,19336370,19299629,19229971,19193655,19147499,19088080,19020727,10757800,20621662,20358619,11251969,20734064,20864512,12121646,12077447,12060054,12017275,12000714,11850637,11820800,11781097,11777969,11744689,11741970,11483955,11387212,11382746,11323414,11279102,11278302,11278251,11212236,11163210,11158177,10789724,10716993,10508522,10207840,9927040,9926943,9872992,9856985,9590282,9435577,9169454,9155023,9045666,8973329,8947046,8840968,8812462,8774881,8576253,8555189,8388126,8317497,8242742,8106553,8020936,7959019,7935686,7890683,7761852,7632217,7566156,1525823,1319842,1310899,18448069,18591668,17339425,17330129,17319955,17270239,17194537,17187359,17146441,17117417,17112860,17107667,17086361,17081983,16928994,16885183,16849474,16835936,16824508,16733295,16673206,16549496,16530041,16528739,16428382,16388503,16380996,16283890,16108056,16027248,15976377,15942678,15861007,15856015,15824172,15811425,15761153,15731757,15647279,15522964,15356634,15350299,15340161,15305380,15235604,15146427,15102771,15017149,15009106,14976186,14760070,14727154,14704634,14601051,14582709,12970754,12939140,12915548,12873459,12840808,12825850,12821554,12736050,12729750,12607775,12515396,12479849,12477932,12429842,12421567,12215842,12202987,12174910,12145287,11102446,14612425,15735734,19538865,20565851,20374083,20428796,15702480,16573164,16982625,18095113,19161338,19293232,19335617,19503063,19548309,19578796,19626999,19672284,19737884,19883511,19886734,19888426,19914962,19916025,19959123,19996017,20067791,20079749,20101206,20101701,20139972,20144264,20157331,20165854,20197483,20237496,20379614,20410122,20457266,20518838,8622651,20805453,20701609,20878063 1579875,1579879,1579925,1299231,1579872,1579927,1579928,1579929,1579930,1579931,1579934,1579936,1579937,1579939,1579940,1579941,1579933,2299005,2301065,2306282,2298922,2302517,2308865,1601591,1579923,1601598,1601599,1601623,1601116,1601593,1579926,1601601,1601627,1601600,1580959,2317498,2317499,2317501,2317502,2317500 7048 NM_003242,NG_007490,AC096921,AY675319,CH471055,DQ377553,DQ377554,DQ377555,DQ377556,DQ377557,DQ377558,DQ377559,U52246,NM_001024847,U69152,AI279872,AJ786388,AK300383,AK304404,AK314102,AL554950,BC040499,BI598781,BM457423,CA437785,CB988859,CD521609,D28131,DB493906,M85079,GU143402,GU143403,HI179058,HI179060 NP_001020018,NP_003233,AAT70724,EAW64410,EAW64411,EAW64412,ABG65632,AAB17553,AAB40916,CAH10151,BAG62117,BAG65238,BAG36796,BAA05673,AAA61164,P37173,Q6A176,AAI52841,ACZ58376,ACZ58377,CBX53837,CBX53838 Hs.82028,Hs.604277 AAT3|FAA3|LDS1B|LDS2B|MFS2|RIIC|TAAD2|TGFR-2|TGFbeta-RII TGF-beta receptor type II|TGF-beta receptor type IIB|TGF-beta receptor type-2|TGF-beta type II receptor|tbetaR-II|transforming growth factor beta receptor type IIC|transforming growth factor, beta receptor II (70/80kDa) isoform 1|transforming growth factor, beta receptor II (70/80kDa) isoform 2|transforming growth factor, beta receptor ii|transforming growth factor-beta receptor type II protein-coding 736539 TGFBR3 transforming growth factor, beta receptor III Transforming growth factor (TGF)-beta is a multifunctional cytokine that modulates several tissue development and repair processes, including cell differentiation, cell cycle progression, cellular migration, adhesion, and extracellular matrix production. Three TGF-beta forms are encoded by separate genes: TGFB1 (MIM 190180), TGFB2 (MIM 190220), and TGFB3 (MIM 190230). The diverse effects of TGF-beta are mediated by the TGF-beta receptors and cell surface-binding proteins. Three TGF-beta receptors exist: type I (TGFBR1; MIM 190181), type II (TFGBR2; MIM 190182), and type III (TGFBR3). TGFBR3 is a glycoprotein that binds TGFB and exists in both a membrane-bound and a soluble form (Johnson et al., 1995 [PubMed 8530052]).[supplied by OMIM] 1579872,1579931,1579943,1579933,1579954,2298922,1580863 19913121,20587546,20628086,20634891,11157754,10746731,1333192,12958365,18184661,16886151,17999987,14557487,18029348,19453261,19416857,19299629,19249006,19164448,19131638,18978678,18931647,18845534,18398939,18397882,18315732,18299279,18174230,18097622,17602227,17408468,17272393,17192875,17084394,16710414,16621788,16613887,16344560,15745937,15489334,15009106,14704634,14585090,12970754,12873459,12782414,12651901,12568406,12477932,12385827,12358857,11382746,20734064,10944857,10207840,10092230,9373149,8530052,8125298,8106553,7935686,1657407,1657406,1319842,7852346,20677641,11323414,20406198,11546783,14976204,16982625,19639191,19842711,20153821,20178540,20208565,20379614,20386084,20424473,20548946 1579872,1579931,1579943,1579933,1579954,2298922 7049 DA724452,DA862176,DR002506,NM_001195683,NM_001195684,NR_036634,NG_027757,NM_003243,AC099334,AC114486,AL162263,AL390780,AL445992,AY796304,CH471097,AI090023,AJ251961,AK225799,AK291345,BC099914,BC126116,BC136295,BC143869,BX090279,CA406273,DA854401,DB224305,L07594 NP_001182612,NP_001182613,NP_003234,CAI22636,CAI14570,CAI14571,CAI13392,CAI13393,AAV50003,EAW73112,EAW73113,CAB64374,BAF84034,AAI26117,AAI36296,AAA67061,Q03167,CAI22637 Hs.482390 BGCAN|betaglycan OTTHUMP00000011787|TGF-beta receptor type 3|TGF-beta receptor type III|TGFR-3|betaglycan proteoglycan|transforming growth factor beta receptor type 3|transforming growth factor, beta receptor 3 protein-coding 1321869 TGFBRAP1 transforming growth factor, beta receptor associated protein 1 1580863 11278302,9545258,16886895,16344560,14702039,12477932,10051563,20562859,19754311,20379614 9392 NM_004257,NM_001142621,AC012360,CH471127,AF022795,AK021697,AK291382,BC020548,CT002669,DB150781,FB750000 NP_004248,NP_001136093,AAY15010,EAX01764,EAX01765,AAC16903,BAG51041,BAF84071,AAH20548,Q8WUH2,Q9H6G8,ABM82485,ABW03418,CAT02179 Hs.446350 TRAP-1|TRAP1 OTTHUMP00000161378|TGF beta receptor associated protein -1|TGF-beta receptor-associated protein 1|transforming growth factor-beta receptor-associated protein 1 protein-coding 1353233 TGFBRE transforming growth factor, beta-1 response element 8327510,11216674 8167 1321463 TGIF1 TGFB-induced factor homeobox 1 The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described. [provided by RefSeq] 1599407,1599409,1580863,1641826 17353931,10764806,8537382,19060265,18455519,18441095,18172074,17825514,17440433,17378698,17158784,17048038,16962354,16916642,16323008,16189514,16169070,16134180,15489334,15223781,15221788,12601022,12593671,12522553,12477932,11810641,11748221,11682623,11571228,11416139,11371641,11226163,10995736,10835638,10199400,7485158,3192211,11427533,20622901,20531442,19524896,20634891,19699159,20064471 1599407,1599409,1641826 7050 BC000814,BC031268,BE296707,BE906361,BF244060,BQ437864,BU657748,CR450333,CR606247,CR614605,X89750,NM_173207,NM_173209,NM_173208,NM_003244,NM_170695,NM_173210,NM_173211,NG_007447,AP001025,CH471113,AF179900,AI813434,AK026766,AK291112,AK309471,NM_174886,HI179138,HI179140,HI179142,HI179144,HI179146,HI179148,HI179150,HI179152 AAH00814,AAH31268,CAG29329,CAA61897,Q15583,ABM82489,ABM85677,NP_777480,NP_775299,NP_775301,NP_775300,NP_003235,NP_733796,NP_775302,NP_775303,EAX01670,EAX01671,EAX01672,AAF81643,BAF83801,CBX53877,CBX53878,CBX53879,CBX53880,CBX53881,CBX53882,CBX53883,CBX53884 Hs.373550 HPE4|MGC39747|MGC5066|TGIF 5'-TG-3' interacting factor|5'-TG-3'-interacting factor 1|TALE homeobox TG-interacting factor|homeobox protein TGIF|homeobox protein TGIF1|tgfb-induced factor (tale family homeobox)|transforming growth factor-beta-induced factor protein-coding 1603585 TGIF1P1 TGFB-induced factor homeobox 1 pseudogene 1 126052 NG_002440,AC007785 pseudo 1344249 TGIF2 TGFB-induced factor homeobox 2 The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor. The encoded protein appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and overexpressed in some ovarian cancers, and mutations in this gene can cause holoprosencephaly. [provided by RefSeq] 1580863 11780052,11427533,9110174,8619474,11006116,16344560,15489334,14702039,12477932,12417041,15342556,15880741,16436215,16534781,16962354,18094028,18768788,18959792,19086843,20040491,20211142 60436 NM_021809,AL050318,CH471077,CQ783690,AB042646,AF055012,AK074802,AK074829,AK313919,BC006549,BC012816,DA438831,AL705108,BG723865,BI869422,BP353213,BQ881960,NM_001199513,NM_001199514,NM_001199515 NP_068581,CAB75368,EAW76127,EAW76128,CAF86813,BAB16424,BAC11216,BAG36640,AAH06549,AAH12816,Q9GZN2,ABM84326,ABM87719,NP_001186442,NP_001186443,NP_001186444 Hs.632264 5'-TG-3' interacting factor 2|5'-TG-3'-interacting factor 2|TGF(beta)-induced transcription factor 2|TGF-beta-induced transcription factor 2|TGFB-induced factor 2 (TALE family homeobox)|homeobox protein TGIF2|tgfb-induced factor 2 (tale family homeobox)|transcription growth factor-beta-induced factor 2 protein-coding 1351295 TGIF2LX TGFB-induced factor homeobox 2-like, X-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq] 1580863 18663611,18384077,15772651,15489334,12815422,12477932,12226713 90316 NM_138960,AJ427749,AL590041,AF497480,BC029920,BC101144,BC101145,BC117398,BC117400 NP_620410,CAD20750,CAI41575,AAM18073,AAI01145,AAI01146,AAI17399,AAI17401,Q3ZCM9,Q8IUE1,ADR82869 Hs.592220 MGC34726|TGIFLX TGF(beta)-induced transcription factor 2-like|TGF-beta-induced transcription factor 2-like protein|TGFB-induced factor 2-like protein, X-linked|TGFB-induced factor 2-like, X-linked|TGIF-like on the X|homeobox protein TGIF2LX|tgfb-induced factor 2-like, x-linked protein-coding 1342872 TGIF2LY TGFB-induced factor homeobox 2-like, Y-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq] 1580863 18663611,18384077,12815422,12477932,12226713 90655 NM_139214,AC019058,AJ427750,AF332223,AK292609,BC101143,BC101146,BC128604 NP_631960,CAD20751,AAK13475,BAF85298,AAI28605,Q8IUE0 Hs.112148 TGIFLY TGF-beta-induced transcription factor 2-like protein|TGFB-induced factor 2-like protein, Y-linked|TGFB-induced factor 2-like, Y-linked|TGIF-like on the Y|homeobox protein TGIF2LY|tgfb-induced factor 2-like, y-linked protein-coding 1605001 TGIF2P1 TGFB-induced factor homeobox 2 pseudogene 1 126826 NG_009692,AL645465 pseudo 731987 TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq] 1580863,1599417 19486042,15846304,15805105,15715085,15665393,15489334,15313180,15304086,12928434,12721789,12654631,12542526,12477932,12397374,12100179,12054678,11511296,11390390,11298529,11251583,10914678,10405818,10196183,9887377,9863908,9523691,9516464,9446578,9384573,9359043,9346937,9326318,7824952,7773290,1704039,7592852,9722562,10066784,10510474,7961731,14645372,8824274,1979171,19386600,19343046,19241467,19197536,18948357,18676680,18397883,17762854,17672918,17024410,16604191,16530159,16344560,16133457,1673840,20167857,1350092,1348508,1346394,7688299,7906657,1351505,1670769,1381356,18673368,19170196,19516268,19556108,19625176,19646949,19692168,19863506,19890349,20080707,20663883 1599417 7051 NM_000359,NG_007150,AL096870,CH471078,D10353,DQ640500,M83230,M98447,AK291350,AK299436,AK301652,AK315819,AK315828,AK315843,BC034699,D90287,DA437895,M55183,M62925,X57974 NP_000350,EAW66047,BAA34203,ABF70204,AAA61156,AAA96667,BAF84039,BAG61413,BAG63129,BAF98710,BAF98719,BAF98734,AAH34699,BAA14329,AAA59474,AAA61166,CAA41040,P22735,ABM82411,ABW03400 Hs.508950 ICR2|KTG|LI|LI1|TGASE|TGK TG(K)|TGase K|TGase-1|epidermal TGase|protein-glutamine gamma-glutamyltransferase K|transglutaminase 1|transglutaminase K|transglutaminase, keratinocyte|transglutaminase-1 protein-coding 732487 TGM2 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1579955,1579992,1579993,1579994,1579987,634393,1579996,1579997,1579998,1580015,1580017,1302539,1580863,1300048 20659425,19324884,19278990,19183553,19182256,19013523,18923241,18849643,18809380,18804908,18793760,18667446,18632639,18587533,18584285,18561261,17189522,17171363,17043648,16951195,16914140,16826431,16757564,16720350,16522628,16449978,16439457,16407273,16382148,16368554,16368540,16338459,16313886,16301118,16300411,16285941,16153302,16146777,16146727,16146723,15886239,15752564,15746535,15715085,15691824,15592455,15585642,15556610,15489334,15471861,15460447,15362860,15272014,15231748,15220331,15201665,15199098,15069073,15001552,14985437,14752105,14747475,14631123,12960346,12853457,12743114,12698366,12528814,12527383,12477932,12438565,12410804,12387450,12368090,12205028,12093810,12061780,11867764,11867708,11829448,11780052,11762979,11742196,11686302,11442349,11390390,11350930,11258932,11013236,10963790,10958788,10922377,10684262,10611475,10561600,10556977,10521459,10518533,10100610,9973324,9512491,9442029,9315663,9252372,9060478,8611626,7912692,7730416,1670773,1670766,1358880,1353685,7688299,7906657,20450932,20739659,20926141,20488756,20489165,20547769,21036738,18544639,18499669,18490773,18505736,18474442,18381937,18375543,18353867,18312620,18235007,18174247,18092889,18052077,17939176,17924658,17890909,17762854,17711877,17671187,17625111,17609251,17476115,17442486,17440814,17403029,17374730,17314516,17228174,20371597,20450916,18673368,19342211,19403524,19542224,19562471,19619546,19625650,19628791,19632032,19657147,19680746,19756726,19838207,19840940,19878304,19912255,19931242,19937343,20007697,20033322,20052409,20080707,20156196,20676023,20874003,20929862,20615646,20967228,20717931,21226238 1579955,1579992,1579993,1579994,1579987,634393,1579996,1579997,1579998,1580015,1580017,1302539 7052 BC073946,BQ430537,BQ938957,BX471706,CA444769,CR597023,CR601566,CR601662,CR602180,CR604340,CR607275,CR608227,CR614057,CR614524,CR621392,CR621826,CR624322,CR624841,CR625858,CR626497,M55153,M98478,M98479,S81734,NM_198951,AL031651,CH471077,DQ523828,AA493184,AF311286,AK058031,AK126508,AK291714,AK295775,AK300292,AK314618,AL512703,AY675221,BC003551,NM_004613 AAH03551,AAH73946,AAA63261,AAA36739,AAB36379,P21980,Q6DKH2,Q9BXQ0,Q9H035,NP_004604,NP_945189,CAB66115,CAM27227,CAM27228,EAW76040,EAW76041,EAW76042,EAW76043,EAW76044,ABF47109,AAK15272,BAF84403,BAG58599,BAG62049,BAG37184,CAC21649,AAT79353 Hs.517033 G-ALPHA-h|GNAH|TG2|TGC C polypeptide|TG(C)|TGase C|TGase H|TGase-2|TGase-H|protein-glutamine gamma-glutamyltransferase 2|protein-glutamine-gamma-glutamyltransferase|tissue transglutaminase|tissue-type transglutaminase|transglutaminase C|transglutaminase H|transglutaminase-2 protein-coding 1343492 TGM3 transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq] 1580863 20716179,14645372,8099584,15193648,24643,12850301,5038456,19142970,19005484,18719606,18029348,17380116,17205060,16804985,16786148,16257432,15715085,15489334,15335352,15304086,15084592,14647409,14646218,12874078,12679341,12477932,11901200,11780052,10777582,10521460,9452468,8889549,8626812,7913719,7851911,7688299,7906657,19522851,19590514,19615732,20379614,20562859 7053 NM_003245,AL031678,CH471133,EF102483,AI216028,AK290324,AK291351,AK298637,AK299447,AK308249,AK315236,AL602787,AL691671,AW265475,BC109075,BC109076,BG675531,BX284087,DC373633,L10386,N23065 NP_003236,CAB37633,EAX10601,EAX10602,ABK41960,BAF83013,BAF84040,BAG60812,BAG61420,BAG37663,AAI09076,AAI09077,AAA61155,Q08188 Hs.2022 MGC126249|MGC126250|TGE TG(E)|TGase E|TGase-3|protein-glutamine gamma-glutamyltransferase E|transglutaminase E|transglutaminase-3 protein-coding 1343082 TGM4 transglutaminase 4 (prostate) 1580863 7916568,18983858,18561295,17552366,16344560,15489334,12477932,9721214,8645175,20596668,20177144,7665178,7688299,7906657,15174051 7047 NM_003241,AC098649,CH471055,EU685240,EU685241,EU685242,AK125536,AK130286,AK300523,AK312936,BC007003,BF678064,DA870110,L34840,U31905,U79008,Y09559 NP_003232,EAW64727,EAW64728,ACF75748,ACF75749,ACF75750,BAC85321,BAG62235,BAG35778,AAH07003,AAB95430,AAC50516,AAB38324,CAA70753,P49221,Q6ZP04,Q9UBL5,ABM87504,ABW03895 Hs.438265 FLJ26776|TGP|hTGP TG(P)|TGase P|TGase-4|fibrinoligase|prostate transglutaminase|prostate-specific transglutaminase|protein-glutamine gamma-glutamyltransferase 4|transglutaminase P|transglutaminase-4 protein-coding 1318367 TGM5 transglutaminase 5 9452468,18509357,16380904,16117804,15489334,15290349,15290346,12477932,12434312,12230511,11390390,7688299,7906657,19440220,19654303,20164844,8889548 9333 NM_004245,NM_201631,AC009852,AC068724,AF206502,AF206503,AF206504,AF206505,AF206506,AF206507,AF206508,AF206509,AF206510,CH471125,AF035960,AF035961,AK298479,BC039086,BC119009,BC122859,AW467571,CA314704,NG_016124 NP_004236,NP_963925,AAF23981,EAW92593,EAW92594,EAW92595,EAW92596,AAC02978,AAC02979,BAG60690,AAI19010,AAI22860,O43548,Q0II16 Hs.129719 MGC141907|TGASE5|TGASEX|TGM6|TGMX|TGX TG(X)|TGase X|TGase-5|protein-glutamine gamma-glutamyltransferase 5|transglutaminase V|transglutaminase X|transglutaminase-5 protein-coding 1349690 TGM6 transglutaminase 6 1580863 11390390,7688299,7906657,21106500,18825674 343641 NM_198994,AL031678,AL049650,CH471133,AF540969,AF540970 NP_945345,CAI22900,CAI22901,CAI22576,CAI22577,EAX10600,AAQ10751,AAQ10752,O95932,AAI66680 Hs.452039 SCA35|TGM3L|TGY|dJ734P14.3 TGase Y|TGase-3-like|TGase-6|protein-glutamine gamma-glutamyltransferase 6|spinocerebellar ataxia 35|transglutaminase 3-like|transglutaminase y|transglutaminase-3-like|transglutaminase-6 protein-coding 1316891 TGM7 transglutaminase 7 Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM] 1580863 11390390,7688299,7906657 116179 NM_052955,AC009852,CH471125,AF363393,BX112796 NP_443187,EAW92597,AAK97573,Q96PF1,AAI48503,AAI53106 Hs.164661 TGMZ TG(Z)|TGZ|TGase Z|TGase-7|protein-glutamine gamma-glutamyltransferase Z|transglutaminase Z|transglutaminase-7 protein-coding 1353046 TGOLN1 trans-golgi network protein 1 369008 AK008520 1351226 TGOLN2 trans-golgi network protein 2 1580863 8907712,9422759,15916959,14743217,12477932,12107412,11208159,10514494,9794796,9373149,7569928,8125298,15254094,17474147,18029348,20086247,20138391,20468057 10618 BX640868,CB216875,CD370267,CD518854,CD671318,CR600590,CR601093,CR618666,U62390,X94333,NM_006464,AC093162,AF029316,BX640818,CH471053,AA814306,AF027515,AF027516,AK025557,AK025805,AK126465,AK222829,AK223063,AK312479,AL133437,AL710137,AW630597,BC008461,BC028219,BC035237,BC046196,BC062782,BF515968,BQ018277,BQ223385,BQ226188,BU192601,BX640733 CAE45926,AAC39539,CAA64002,O43493,ABW03892,ABW03576,NP_006455,AAY24095,AAB96906,AAB96907,AAB96908,EAW99535,EAW99536,EAW99537,EAW99538,EAW99539,EAW99540,AAC39541,AAC39542,BAC86559,BAD96549,BAD96783,BAG35383,AAH08461,AAH28219 Hs.593382 MGC14722|TGN38|TGN46|TGN48|TGN51|TTGN2 OTTHUMP00000202907|TGN38 homolog|trans-Golgi network integral membrane protein 2|trans-Golgi network protein (46, 48, 51kD isoforms)|trans-Golgi network protein TGN51 protein-coding 1320573 TGS1 trimethylguanosine synthase homolog (S. cerevisiae) 15130578,19307714,18029348,18407833,18391951,18039666,16344560,16341674,15489334,14702039,12943661,12776181,12477932,12200376,12189208,12097419,12032086,11983179,18775984,18660489,11912212,11517327,15574333,20546612,16687569,16713569,19386620,20360394,20379614 96764 NM_024831,AC018607,AC100817,CH471068,AF286340,AF432215,AK026648,AK055178,AK314693,AL832426,AY028423,AY534911,BC011999,BM853546,BX648548,CR594349,DB082992 NP_079107,EAW86761,EAW86762,EAW86763,AAK83025,AAL99922,BAB15516,BAG51481,BAG37244,AAK27730,AAT02709,AAH11999,Q96RS0,AAI60105 Hs.335068 DKFZp762A163|FLJ22995|NCOA6IP|PIMT|PIPMT CLL-associated antigen KW-2|PRIP-interacting protein PIPMT|PRIP-interacting protein with methyltransferase domain|PRIP-interacting protein with methyltransferase motif|SEREX-defined|cap-specific guanine-N2 methyltransferase|hepatocellular carcinoma-associated antigen 137|nuclear receptor coactivator 6 interacting protein|nuclear receptor coactivator 6-interacting protein|trimethylguanosine synthase|trimethylguanosine synthase homolog protein-coding 733897 TH tyrosine hydroxylase The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq] 1580026,1580032,1580034,1580036,1580037,1580038,1580048,1580050,737737,1601629,1601631,1601630,1580863,1601632,1601634,1300048,4139904 19913121,20564319,20602615,20628086,20646572,20706199,20809526,20818075,20838244,20734064,21083670,20198643,1973163,1347949,33381,2872999,11943812,16338639,10907721,12457228,12113410,12631248,18343820,17520326,17135716,19491717,19491146,19367319,19360691,19352218,19285077,19224593,19221445,19189602,19156168,19125082,19120120,18979915,18814238,18574609,18554280,18534229,18270970,18208403,18181650,18085551,18058633,18023073,17988588,17985144,17972051,17948905,17926059,17869399,17784840,17698732,17698383,17466074,17391063,17329957,17195153,17194738,17018139,16887311,16764822,16741719,16731528,16644734,16643317,16636198,16516890,16447258,16445854,16360899,16344718,16252282,16251897,16139102,15953356,15898085,15744773,15736042,15735319,15722952,15476168,15468323,15303408,15135070,15077008,14749349,14739699,14651989,14651963,12891655,12782971,12759555,12610512,12576454,12571119,12527603,12493595,12477932,12428766,12358785,11834745,11738155,11359875,11326301,11246459,10660577,10391209,9920892,9754624,9703425,9613851,8889548,8817341,8528210,7814018,7789962,7715703,6150037,6137760,2905129,2902075,2896667,2892893,2892528,2888085,2887169,2882428,20056467,20124442,20132525,12421349,14570886,14675149,18583979,19448984,19604093,19674121,19693267,19703902,19761814,19767753,19772578,19801645,19815691,19833152,19874574,19958792,20046397,20067853,20146650,20163778,20468064,2874140,7901013,8101641,20938049 1580026,1580032,1580034,1580036,1580037,1580038,1580048,1580050,737737,1601629,1601631,1601630,1601632,1601634,4139904 7054 BC104967,BC143611,BC143614,BM718799,DQ677336,DQ677337,M17589,M20911,M20912,M24790,X05290,Y00414,AY144495,NM_199292,NM_000360,NM_199293,NG_008128,AC132217,AF536811,AY211521,CH471158,D00269,M18116,M23597,M24791,AA447751,AY144494 AAN39539,AAI04968,AAI43612,AAI43615,ABG73364,ABG73365,AAA61179,AAA61167,AAA61168,AAA61174,CAA28908,CAA68472,O43816,P07101,P78428,Q0PWM2,Q0PWM3,Q15587,Q16846,Q2M3B4,Q6XS77,Q7KZ36,Q7KZ38,Q7KZ39,Q7KZ44,Q8IZE1,Q8IZE2,Q8IZQ6,Q8IZQ7,Q9NP14,Q9UQ57,NP_954986,NP_000351,NP_954987,AAN73289,AAN73290,AAP43671,EAX02490,EAX02491,EAX02492,EAX02493,EAX02494,BAA25094,BAA25095,BAA25096,BAA25097,AAA77649,AAA77650,AAA77651,AAA61170,AAA61171,AAA61172,AAA61173,AAN39538 Hs.435609 DYT14|DYT5b|TYH dystonia 14|tyrosine 3-hydroxylase|tyrosine 3-monooxygenase protein-coding 1346942 TH1L TH1-like (Drosophila) The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq] 20735431,12620389,12676794,19136554,17621989,17499042,17131388,16169070,15489334,15231748,14702039,14684750,12612062,12477932,11952167,11780052,11112772,11042152,11030415,10199401,8889548,16838299,17353931,19673036,20028984,20069563 51497 NM_198976,AL109840,CH471077,AA831111,AF161479,AJ238374,AJ238375,AJ238376,AJ238379,AK001316,AK023310,AK023927,AK127431,AK293410,AK304310,BC014952,BI459250,BM974193,BX647417,CR592487,CR615187,CR615510,CR616536,CR616677 NP_945327,CAC09368,EAW75451,EAW75452,EAW75453,EAW75454,EAW75455,EAW75456,AAF29094,CAB64337,CAB64373,CAB64339,BAA91618,BAB14519,BAB14729,BAG56917,BAG65163,AAH14952,Q8IXH7 Hs.517148 HSPC130|NELF-C|NELF-D|TH1 NELF-C/D|TH1 drosophila homolog|TH1-like protein|negative elongation factor C/D|negative elongation factor proteins C and D|trihydrophobin 1 protein-coding 1602161 THA1P threonine aldolase 1 pseudogene 20210993,16344560,15757516,15146197 390816 NG_009023,AC087645 GLY1 pseudo 1323240 THADA thyroid adenoma associated 20712903,20878950,20879858,20889853,21151128,19324937,19247373,19139842,19020324,19020323,18714373,18591388,18567820,18372903,17123335,16344560,12955091,12477932,12063398,11214970,19502414,19602701,19670153,19720844,19730683,19741467,19767753,19794065,19833888,19862325,19896111,19933996,20023658,20075150,20203524,20379614,20490451,21102463,20564319,20571754,20816152 63892 NM_022065,NM_001083953,AC010883,AC092615,AC092838,AC104138,AB051554,AF323176,AK025530,AK126004,AK126824,AK290023,AK307915,AL832141,AY149629,AY149630,AY149631,AY149632,AY149633,BC007743,BC025773,BC037990,BC105976,BX641038,BX648155,DA332700 NP_071348,NP_001077422,AAY14994,AAX93152,AAX93154,BAB21858,AAK11318,BAB15162,BAC86389,BAC86709,BAF82712,AAO46785,AAO46786,AAO46787,AAO46788,AAO46789,AAH07743,AAH25773,AAH37990,AAI05977,Q6YHU3,Q6YHU4,Q6YHU5,Q6YHU6,Q6ZT85,Q8IY32,AAI67788 Hs.369592 FLJ21877|FLJ44016|FLJ44876|FLJ77530|GITA|KIAA1767 death receptor-interacting protein|gene inducing thyroid adenomas protein|thyroid adenoma-associated protein protein-coding 1316870 THAP1 THAP domain containing, apoptosis associated protein 1 The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 15863623,17003378,18073205,19182804,19528516,19345148,17702011,16713569,16366514,16189514,15489334,15111678,14702039,12717420,12575992,12477932,9382482,9373149,8125298,19345147,19908320,19908325,20083799,20144952,20200153,20211909,20669277,20865765,20825472 55145 NM_199003,NM_018105,NG_011837,AC087533,CH471080,AI475984,AK001339,AK223231,AL832077,BC021721,BG497522,CD639319,CD709111,CR457256,CR607366 NP_945354,NP_060575,EAW63205,EAW63206,BAA91635,BAD96951,AAH21721,CAG33537,Q9NVV9 Hs.7432 DYT6|FLJ10477|MGC33014 4833431A01Rik|THAP domain protein 1|THAP domain-containing protein 1|nuclear proapoptotic factor protein-coding 1352281 THAP10 THAP domain containing 10 1580863 16344560,18575747,16189514,15489334,12575992,12477932 56906 DA272000,NM_020147,AC090868,CH471082,AK313472,AL360202,BC027857,BC072414,CR619402 NP_064532,EAW77863,BAG36257,CAB96109,AAH27857,AAH72414,Q9P2Z0,ABM81853,ABM85015,ABW03329 Hs.591123 THAP domain-containing protein 10 protein-coding 1321069 THAP11 THAP domain containing 11 The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq] 1580863 18585351,19008924,15489334,12575992,12477932,9853615,8325628 57215 NM_020457,AC040162,CH471092,AB015338,AK289367,BC012182,BI261822,BQ898449,EF036502,L10378,L10379 NP_065190,EAW83180,BAA34796,BAF82056,AAH12182,ABO65088,Q96EK4,ABM83526,ABM86757 Hs.632200 CTG-B43a|CTG-B45d|HRIHFB2206|RONIN THAP domain-containing protein 11 protein-coding 1349583 THAP2 THAP domain containing, apoptosis associated protein 2 11076863,11256614,16381901,15489336,15489334,12575992,12477932,15342556,16344560,11230166 83591 NM_031435,AC073612,CH471054,AK313452,AL136607,BC008358,CR533485,CR603130,BP371303,DB301707 NP_113623,EAW97265,BAG36240,CAB66542,AAH08358,CAG38516,Q6FIE1,Q9H0W7,CAL37961 Hs.727733 DKFZp564I0422 THAP domain-containing protein 2 protein-coding 1351040 THAP3 THAP domain containing, apoptosis associated protein 3 1580863 8889548,15489334,14702039,12575992,12477932,16710414,20200153 90326 BE905510,BM931707,BU624154,NM_001195752,NM_001195753,NM_138350,AL031447,CH471130,AF086370,AK096217,BC005114,BC022081,BC092427,CR600833,CR601567,CR609298,CR620139 NP_001182681,NP_001182682,NP_612359,CAI19468,CAI19469,CAI19470,EAW71562,EAW71563,EAW71564,EAW71565,EAW71566,EAW71567,EAW71568,EAW71569,BAC04727,AAH05114,AAH92427,Q8WTV1,ABM82596,ABM85782 Hs.709655 MGC33488 OTTHUMP00000001578|THAP domain-containing protein 3 protein-coding 1342863 THAP4 THAP domain containing 4 1580863 15815621,15498874,15489334,14702039,12575992,12477932,10810093,9373149,8125298,16169070,20171287 51078 BC094822,BX405245,BC071896,NM_001164356,AC133528,AC133781,CH471063,AF132970,AF258556,AK001216,AK225608,BC000247,BC000767,BC001842,BC009439,NM_015963,BC069235 AAH71896,AAH94822,Q8WY91,Q9BQ29,AAH09439,NP_057047,NP_001157828,AAY14918,EAW71276,EAW71277,AAD27745,AAG23759,BAA91560,AAH00247,AAH00767,AAH01842,AAH69235 Hs.435759 CGI-36|PP238 THAP domain-containing protein 4 protein-coding 1353274 THAP5 THAP domain containing 5 19502560,17207965,12690205,12575992,12477932,20602751 168451 NM_001130475,NM_182529,AC005058,CH236947,CH471070,AL833137,BC040353,BC053634 ADQ33081,NP_001123947,NP_872335,EAL24383,EAW83436,EAW83437,AAH53634,Q7Z6K1 Hs.723931 DKFZp313O1132 OTTHUMP00000207005|OTTHUMP00000207007|THAP domain-containing protein 5 protein-coding 1320801 THAP6 THAP domain containing 6 1580863 11256614,16381901,16344560,15489336,15489334,14702039,12575992,12477932,11230166,11076863 152815 AC096759,CH471057,AK056959,AK303658,AK308914,AK309187,AK310575,AK313765,AL833350,BC022989,BX647579,DA995979,NM_144721 NP_653322,EAX05730,EAX05731,EAX05732,EAX05733,EAX05734,EAX05735,EAX05736,BAG64658,BAG36503,CAI46111,AAH22989,CAI46093,Q5JPC6,Q8TBB0,CAL37868,CAL38579 Hs.479971 MGC30052 OTTHUMP00000219101|OTTHUMP00000219103|THAP domain-containing protein 6 protein-coding 1317614 THAP7 THAP domain containing 7 1580863 18585351,18029348,16341674,16195249,16189514,15561719,15489334,15461802,12575992,12477932,17577209 80764 NM_030573,NM_001008695,AC002472,CH471176,AK024609,AK025906,AK300715,AK315457,BC004346,BE264280,BI223500,BM790105,CR456343,CR594608,CR603475,CR605890,CR611968,CR612368,CR614644,CR620039,CR594592,CR597191,CR602822,CR623695 NP_085050,NP_001008695,EAX02918,EAX02919,EAX02920,EAX02921,BAG62392,BAG37844,AAH04346,CAG30229,Q9BT49,CAK54485,CAK54784,ACE87760,ACE87080 Hs.512756 MGC10963 THAP domain-containing protein 7 protein-coding 1343379 THAP8 THAP domain containing 8 1580863 15489334,14702039,12575992,12477932,16169070,17207965 199745 NM_152658,AC002116,AD000813,AK057453,AK093048,AK296640,AK297630,BC046207,BC072416,CR590484,CR605666 NP_689871,BAB71493,BAC04034,BAG59241,BAG60003,AAH46207,AAH72416,Q8NA92,ADQ32020 Hs.350209 FLJ32891 OTTHUMP00000045819|THAP domain-containing protein 8 protein-coding 1349156 THAP9 THAP domain containing 9 16344560,15616143,14702039,12575992,12477932,9373149,8125298 79725 NM_024672,AC021105,AJ717666,AK026973,AK091412,AK225333,BC131722,BX648134,DA317935,DB154392 NP_078948,CAG30691,BAB15609,BAG52354,Q9H5L6,AAI60017 Hs.582050 FLJ23320|FLJ34093 THAP domain-containing protein 9 protein-coding 1353555 THAS thoracoabdominal syndrome 2139758 7055 1349382 THBD thrombomodulin The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq] 1580052,1580053,1580060,1580061,2312456,2312457,2312460,1601648,2312458,2312461,2312459,2312462,634506,1601638,1601651,1601636,1601645,1601646,1601652,1601640,1601639,1601641,1601654,1580863 19913121,20538124,20628086,20673868,14983241,14769148,14715348,14702039,14556624,14523329,12951323,12920633,12918732,12878585,12871600,12871544,12862205,12831611,12709053,12588872,12576329,12477932,12407115,12297717,12210386,12204814,12139752,12135317,12068020,12066950,12031986,11986219,11864708,11864703,11858479,11848462,11846431,11780052,11734675,11642722,11552992,11257274,11245641,11231927,10336638,14691232,9252393,2822087,2538457,19420105,19356953,19238444,19133039,19091791,19074424,19055859,18991188,18977990,18974842,18947863,18940182,18590927,18579691,18568955,18484695,18373234,18204921,18035074,17982464,17895503,17875054,17849052,17848551,17702963,17677000,17287633,17278618,17275499,17195062,17099210,17099142,17067436,17049585,17003923,16507317,16456088,16418283,16307806,16153429,16136486,16126727,16043642,15900300,15897668,15842356,15837080,15714116,15705565,15677570,15613027,15582990,15574195,15489334,15488871,15183044,15178554,15135268,15099291,15080580,14987915,20542541,20627281,20505198,20581778,11106601,10066849,9843165,9395524,9367781,9198186,9157575,9045633,8745396,8663147,8661740,8528067,8216207,7947766,7811989,7615164,7559494,3001144,2839283,2836377,2820710,2819876,2544585,1667949,8390446,8244401,17379830,19278588,19436051,19477487,19578796,19609862,19625716,19638712,19656282,19682239,19900089,19948975,20036902,20051099,20116378,20128871,20237496,20346360,20379614,20452482,20453000,20479115,20479116,20513133,20479117,20713448 1580052,1580053,1580060,1580061,2312456,2312457,2312460,1601648,2312458,2312461,2312459,2312462,634506,1601638,1601651,1601636,1601645,1601646,1601652,1601640,1601639,1601641,1601654 7056 NM_000361,NG_012027,AF495471,AL049651,CH471133,D00210,J02973,AI285986,AK091934,AK123557,BC035602,BC053357,BG771668,M16552,X05495 NP_000352,AAM03232,CAB51954,EAX10172,BAA00149,AAA61175,BAG53913,AAH35602,AAH53357,AAB59508,CAA29045,P07204 Hs.2030 AHUS6|BDCA3|CD141|THRM|TM CD141 antigen|fetomodulin|thrombomodulin protein-coding 1345942 THBS1 thrombospondin 1 The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq] 1580062,1580063,1580064,1580065,1580066,1580863,2325029,2325028,2317960,2317961,1626167,2325023,2325024,2317938,2317939,2317942,2317943,2317959,2325022,2325025,2325026,2325021,2325027,2317941 19913121,20485444,20628086,20673868,20494556,20300551,20655775,20458281,20498063,16263699,18700275,18676351,18675774,18661355,18653767,18641687,18515748,18499674,18425817,18413367,18384112,18336597,18321763,18319354,18275041,18226512,18222489,18208671,18178577,18089612,18057090,18035072,18021253,17917789,17709727,17706282,17638877,17620335,17572512,17507668,17487836,17374440,17363705,17289869,17198740,17175378,17106256,16962673,16951312,16835379,16740002,16732887,16684956,16650813,16618977,16495290,16478297,16465407,16388804,16344560,16335952,16270194,17596205,18674744,16882710,18555217,17416590,6438154,3997886,15700281,18096704,6338048,19581582,19435835,19396698,19383251,19351925,19271751,19250552,19239428,18855618,18855616,18853485,18712840,17879962,6693501,2435757,3084490,6777381,17996481,9304800,17413041,18757424,12964017,12947001,12927044,12909644,12902472,12878157,12824298,12782324,12759541,12718556,12679131,12676581,12676576,12658547,12643280,12609716,12598312,12553016,12530526,12482844,12477932,12450399,12444143,12443715,12391027,12358136,12220191,12147682,12147243,12054567,11986954,11980922,11964147,11920574,11882904,11820799,11801541,11773026,11606713,11358957,11094060,11067851,11023976,10922378,10900205,10772961,10749676,10487979,10398144,10397731,9867861,9840442,9657149,9478926,9459346,9334164,9328841,9169439,9045712,8751720,8550562,8463250,8408036,7775583,7521539,3571333,3461443,3402455,3030396,2918029,2745554,2544587,2522013,2478219,2430973,2341158,2335352,1550960,1350660,9419208,10698186,15696166,16150726,16148025,16147889,16141331,16100012,16037098,16006654,15945504,15927849,15908066,15907858,15890262,15855645,15833768,15820829,15817447,15792551,15730804,15665307,15634883,15583827,15522326,15503824,15456750,16166434,15356163,15347840,15342643,15292271,15217952,15166498,15140581,15113588,15037654,15034804,15014436,15007078,14991768,14718574,14683523,14583433,14568985,14561896,14559817,14557872,14555767,20546609,20470445,19959938,20016205,101549,10982388,15258909,15634279,15799029,18688696,18726995,18788631,18940719,19414528,19447890,19509293,19531495,19542224,19570906,19584238,19661269,19687096,19698122,19706610,19710505,19715883,19721725,19732880,19738618,19747478,19762163,19805200,19826414,19906510,19998449,20056600,20103648,2010551,20182908,20203415,20204299,20346360,20452482,20453000,20467328,19422532,19485899,20923780,20372793,20876797,20625903 1580062,1580063,1580064,1580065,1580066,2325029,2325028,2317960,2317961,1626167,2325023,2325024,2317938,2317939,2317942,2317943,2317959,2325022,2325025,2325026,2325021,2317941 7057 NM_003246,AC037198,CH471125,J04835,U12471,AB209912,AI290070,AK291639,AK293230,AK304754,AK309613,AK310820,AU117102,AU279999,BC028145,BC136469,BC136470,BG251169,CA411820,M14326,M25631,M99425,X04665,X14787 NP_003237,EAW92379,EAW92380,EAW92381,AAA61178,AAA21127,BAD93149,BAF84328,BAG56769,BAG65509,AAH28145,AAI36470,AAI36471,AAA61237,AAA36741,AAB59366,CAA28370,CAA32889,P07996,Q59E99,Q7KYY3 Hs.164226 THBS|THBS-1|TSP|TSP-1|TSP1 thrombospondin-1|thrombospondin-1p180 protein-coding 1322186 THBS2 thrombospondin 2 The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq] 1580069,1580071,1580863,2317938,1598407 1459996,6338048,19282863,19056482,18955754,18720079,18718009,18682400,18600213,18455130,18178577,18089612,18032585,17638877,17620335,17334638,17202846,17182969,16246837,16186819,15347840,15121769,14561659,12909644,12861025,12824879,12732502,12482844,12477932,12358136,12058057,11980922,11943589,11590138,11387198,11147677,10900205,10491303,10329465,9442117,9249061,8406456,1559694,20472562,19913121,20485444,20628086,19578796,19592030,19631562,19818485,20227257,8463250 1580069,1580071,2317938 7058 NM_003247,BX322234,CH471051,U79410,AA853383,AA853654,AI130835,AK292429,AL603377,BC146676,BC150175,BX390187,BX641023,CA411880,L12350,M81339,NG_022911 NP_003238,CAI23645,CAI23646,EAW47453,EAW47454,EAW47455,BAF85118,AAI46677,AAI50176,CAE46014,AAA03703,P35442,Q5RI53,Q6MZL6 Hs.371147 TSP2 thrombospondin-2 protein-coding 1314326 THBS3 thrombospondin 3 The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. [provided by RefSeq] 1580863 8288588,8468055,6338048,17022822,15489334,12477932,11943589,11137453,10527891,10329465,9373149,9331372,8125298,7759526,7558000,1601886,1459996 7059 NM_007112,AF023268,AL713999,CH471121,AK074796,AK223278,AK298592,AK298803,AK298914,AK311031,AK314337,BC018786,BC113846,BC113847,BX490216,CR590329,L38969 NP_009043,AAC51818,CAI95084,EAW53109,EAW53110,BAG52003,BAD96998,BAG60782,BAG60938,BAG61021,AAH18786,AAI13847,AAI13848,AAC41762,P49746,Q2HIZ0,Q2HIZ1,Q53FK6 Hs.169875,Hs.658188 MGC119564|MGC119565|TSP3 thrombospondin-3 protein-coding 735475 THBS4 thrombospondin 4 The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. Studies of the rat counterpart suggest that this protein may be involved in local signaling in the developing and adult nervous system. [provided by RefSeq] 1580073,1580863 19913121,20485444,20628086,20628624,20673868,7852353,7490284,6338048,19420105,18178577,17709521,17202846,16923428,16246837,16148025,15897551,15489334,15474480,15131549,15121769,14674882,12482844,12477932,11967953,11137453,10501972,8432726,8350346,17182969,12952849,16099885,17927980,18802666,19578796,19834535,20227257,20452482,7519904 1580073 7060 AC012636,NM_003248,AC112184,AY566253,CH471084,AK302842,AK313587,BC050456,Z19585 NP_003239,AAS66982,EAW95841,BAH13818,BAG36356,AAH50456,CAA79635,P35443 Hs.211426 TSP4 OTTHUMP00000222343|thrombospondin-4 protein-coding 1350927 THC2 thrombocytopenia 2 (autosomal dominant) 10521306 23672 1319470 THEG Theg homolog (mouse) This gene is specifically expressed in the nucleus of haploid male germ cells. It encodes a protein that may be involved in the regulation of germ cell nuclear functions. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 10747865,16189514,12748127,12477932,11173852,19060904 51298 NM_199202,NM_016585,AC016588,CH471242,AB033129,AF268610,BC028574 NP_954672,NP_057669,EAW61203,EAW61204,EAW61205,BAA93718,AAG17663,AAH28574,Q9P2T0,ABM81821,ABM84975 Hs.250002 CT56|MGC26138 Theg homolog|cancer/testis antigen 56|testis-specific protein-coding 1603281 THEM4 thioesterase superfamily member 4 Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq] 18029348,20877624,19604401,19679565,19168129,17615157,16341674,15026474,14702039,12477932,11598301,8889548 117145 NM_053055,AL450992,CH471121,AF075119,AJ313515,AK024219,AK096211,AK289494,AK314852,BC017339,BC065277,BE349541,BM688785,BM787449,BQ774123 NP_444283,CAI12162,EAW53400,EAW53401,EAW53402,CAC86384,BAF82183,BAG37369,AAH65277,Q5T1C6 Hs.164070 CTMP|MGC29636 C-terminal modulator protein|carboxyl-terminal modulator protein|thioesterase superfamily member 4 protein-coding 1601923 THEM5 thioesterase superfamily member 5 14702039,12477932,20877624,20237496 284486 NM_182578,AL450992,CH471121,AK095283,BC101610,BC112239 NP_872384,CAI12160,CAI12161,EAW53404,BAC04521,AAI01611,AAI12240,Q8N1Q8,ADR82891 Hs.132648 FLJ37964|MGC126659|MGC138444 OTTHUMP00000015273|thioesterase superfamily member 5 protein-coding 1603481 THEMIS thymocyte selection associated 11329013,16344560,19621038,20095854,20190752,19597499,19597498,19597497,14702039,12477932,19620281,19805304,19913121,20628086 387357 BG461112,DA818250,NG_016226,NM_001164685,NM_001164687,NM_001010923,AL035470,AL356432,AL365224,CH471051,AK094863,AK097903,AK124031,AK128377,AK292046,BC043608,BC130516,BC144034,BX640890,BX956657,HI574290,GN344755 NP_001158157,NP_001158159,NP_001010923,CAI13396,CAI13397,CAI17110,CAI17111,EAW48091,EAW48092,BAG52943,BAC05194,BAG53994,BAG54669,BAF84735,AAI30517,CAE45941,Q8N1K5,CBX47634,CAY56007,ADR83235 Hs.661756 C6orf190|C6orf207|FLJ40584|GASP|MGC163388|SPOT|TSEPA|bA325O24.3|bA325O24.4 GRB2-associated protein|OTTHUMP00000017177|protein THEMIS|signaling phosphoprotein specific for T cells|thymocyte selection pathway associated|thymocyte-expressed molecule involved in selection protein-coding 1603030 THG1L tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) 11256614,18508967,15459185,14702039,12477932,11230166,9373149,8125298,16189514,21078997,20877624 54974 NM_017872,AC026407,CH471062,AF086486,AK000553,AK021663,AK023355,AK223119,AK304590,AL136669,AY463216,BC001523,BC001852,BC023521,CR533503,CR626757 NP_060342,EAW61590,EAW61591,BAA91249,BAB13870,BAB14540,BAD96839,BAG65378,CAB66604,AAS21134,AAH01523,AAH01852,AAH23521,CAG38534,Q9H8R6,Q9NWX6 Hs.353090 FLJ11601|FLJ20546|ICF45 interphase cytoplasmic foci protein 45|probable tRNA(His) guanylyltransferase protein-coding 1349166 THM thymoma 7063 1343746 THNSL1 threonine synthase-like 1 (S. cerevisiae) 737633,1580863 17034760,16344560,15489334,15164054,14702039,12477932,16385451,19615732 737633 79896 NM_024838,AL512598,CH471072,AK025655,AK094362,AK125249,BC016697,BC035132,BX647989,CR457346,CR615274,DA496769 NP_079114,CAH70791,EAW86113,EAW86114,BAB15205,BAC04338,BAG54173,AAH16697,AAH35132,CAG33627,Q8IYQ7,Q8N9J5 Hs.645274 FLJ22002|TSH1 threonine synthase-like 1|threonine synthase-like 1 (bacterial) protein-coding 1605368 THNSL2 threonine synthase-like 2 (S. cerevisiae) 17034760,16413481,16344560,14702039,12477932,16169070,19877052 55258 DA044670,DB024675,HM185274,NM_018271,AC092836,CH471215,AK001778,AK095303,AK289486,AK315831,AL832746,BC035315,BC047758,BC050699,BC064423,CR613903,CR620866 Q86YJ6,ADL14696,NP_060741,AAX88906,EAW77072,EAW77073,EAW77074,BAA91904,BAG53023,BAF82175,BAF98722,AAH35315,AAH47758,AAH64423 Hs.516179 FLJ10916|SOFAT|THS2|TSH2 OTTHUMP00000160830|OTTHUMP00000160831|secreted osteoclastogenic factor of activated T cells|threonine synthase-like 2 protein-coding 1318555 THOC1 THO complex 1 HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM] 18029348,7525595,18469354,17699767,17638875,17081983,16344560,15998806,15870275,15489334,15358532,15302935,14962675,14702039,12477932,11979277,9373149,8125298,10512864,15833825,17190602,18974867,20237496,20351715 9984 NM_005131,AP000845,CH471113,AK055354,AK123530,AK225067,AK225709,AK314755,AY573302,AY573303,BC010381,CR591724,CR596078,CR597833,CR600665,DA902294,L36529 NP_005122,EAX01731,EAX01732,EAX01733,EAX01734,BAG37293,AAT81408,AAT81409,AAH10381,AAA53571,Q96FV9,ABM83694,ABW03548 Hs.712543 HPR1|P84|P84N5 THO complex subunit 1|hTREX84|nuclear matrix protein p84|tho1 protein-coding 1353819 THOC2 THO complex 2 THO2 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), HPR1 (MIM 606930), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM] 1580863 17474147,17081983,16964243,16344560,15998806,15302935,12477932,11979277,9771704,15833825,15870275,17190602,18974867,14702039 57187 NM_001081550,AL023575,AL030996,CH471107,Z82901,AF441770,AK001758,AK023659,AK296780,AW206982,BC054050,BC063692,BC072400,BF212673,BX648654,DA504931,NG_021468 NP_001075019,CAO03594,CAI42271,CAI42273,CAO03526,EAX11863,CAI42864,AAM28436,BAB14630,BAG59358,AAH63692,AAH72400,CAE46196,Q6P441,Q8NI27,AAI72220,CAX11867,CAX11868,CAX11869,CAX11870 Hs.149991 CXorf3|THO2|dJ506G2.1|hTREX120 OTTHUMP00000023972|OTTHUMP00000215584|THO complex subunit 2 protein-coding 1323248 THOC3 THO complex 3 TEX1 is part of the TREX (transcription/export) complex, which includes THO2 (MIM 300395), HPR1 (MIM 606930), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM] 1580863 15998806,15489334,12477932,11979277,15833825,17190602,18974867,19615732 84321 NM_032361,AC138965,CH878413,AW511349,AW628745,BC006849,BC066325,BC068499,CR590694,CR592119,CR594661,CR596017,CR599865,CR600043,CR601880,CR602551,CR606947,CR609328,CR609602,CR610202,CR611879,CR614228,CR618762,CR618886,CR619188,CR619858,CR622623,CR624821 Q96J01,NP_115737,EAW50534,AAH06849,AAH66325,AAH68499,Q6NZ53 Hs.484227,Hs.715943 MGC5469|TEX1 OTTHUMP00000223280|TEX1 homolog|THO complex subunit 3|hTREX45|tho3 protein-coding 1322669 THOC4 THO complex 4 The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq] 1580863 15047853,12226669,19165146,18562279,18243119,17229714,15998806,15782174,15489334,12944400,12477932,12438613,12176931,11991638,11979277,11707413,11675789,11546873,11118221,11032328,10488337,9952027,9731529,9119228,14667819,15833825,17190602,17196963,17643375,18029348,18974867,19110458,19264631,19369354,19553338,19710015,20015986 10189 NM_005782,AC137723,CH471099,AF047002,AF086513,BC052302,BU624466,AC145207 NP_005773,EAW89699,AAD09608,AAH52302,Q86V81,ACE87115,ACE86440 Hs.534385 ALY|BEF OTTHUMP00000218275|THO complex subunit 4|ally of AML-1 and LEF-1|bZIP enhancing factor|bZIP-enhancing factor BEF|tho4|transcriptional coactivator Aly/REF protein-coding 1349222 THOC5 THO complex 5 2317225,2317224 19165146,19059247,19015024,18373705,18029348,17081983,15489334,15461802,15221008,14702039,12477932,11979277,10597251,10231032,9373149,8889548,8242058,8125298,16009131,15833825,15998806,17190602,18974867,20009918,15146197 2317225,2317224 8563 NM_003678,NM_001002877,NM_001002879,NM_001002878,AC005529,CH471095,L18972,AB023200,AJ006069,AK025385,AK098709,AK122673,AK225169,AK225752,BC003615,BQ184247,BU187531,BX381026,BX400943,BX404329,CN387648,CR456542,CR599155,CR604650,CR621300,CR623927 NP_003669,NP_001002877,NP_001002879,NP_001002878,EAW59808,EAW59811,EAW59812,AAC26837,BAA76827,CAA06841,AAH03615,CAG30428,Q13769,CAK54573,CAK54872 Hs.75361 C22orf19|Fmip|PK1.3|fSAP79 Fms-interacting protein|NF2/meningioma region protein pK1.3|PP39.2|THO complex subunit 5 homolog|functional spliceosome-associated protein 79|hTREX90|placental protein 39.2 protein-coding 1601739 THOC6 THO complex 6 homolog (Drosophila) 15489334,12477932,19913121,20628086,15833825,15998806,17190602,18974867,19773279 79228 NM_024339,NM_001142350,AC108134,CH471112,AK075330,AK308960,AK314086,AL832548,BC003118,BC050674,BG613317,BM457458,CR593456,CR619161,CR624641,AK310113 NP_077315,NP_001135822,EAW85421,EAW85422,EAW85423,BAC11552,BAG36782,AAH03118,AAH50674,Q86W42 Hs.412304 MGC2655|WDR58|fSAP35 THO complex subunit 6 homolog|WD repeat domain 58|WD repeat-containing protein 58|functional spliceosome-associated protein 35 protein-coding 1602206 THOC7 THO complex 7 homolog (Drosophila) 19059247,12951069,12584197,12477932,9921901,9373149,8125298,16169070,15833825,15998806,17190602,18974867,20379614,17207965 80145 NM_025075,AC104162,CH471055,AF104914,AI391685,AI784549,AK027098,AK225110,BC020599,BC065012,CR457373 NP_079351,EAW65418,EAW65419,EAW65420,EAW65421,BAB15656,AAH20599,AAH65012,CAG33654,Q6I9Y2,ADQ32597 Hs.288151 FLJ23445|NIF3L1BP1|fSAP24 NIF3L1-binding protein 1|Ngg1 interacting factor 3 like 1 binding protein 1|THO complex subunit 7 homolog|functional spliceosome-associated protein 24|hTREX30|ngg1-interacting factor 3-like protein 1-binding protein 1 protein-coding 68460 THOP1 thimet oligopeptidase 1 1580863 7639763,15231747,19282285,18571100,17251185,15489334,15376229,15328361,15057824,14998993,14702039,12648459,12502762,12477932,11479311,10993116,10969067,10541437,10504294,10415366,9790774,8824811,8373360,8286339,19614740 7064 NM_003249,AC006538,CH471139,AK093392,AK300552,BC000135,BC000583,BC002391,BC013878,BC067281,CR601659,CR602683,U29366,Z50115,HB965591,HD023001 NP_003240,AAD13118,EAW69364,EAW69365,BAG52704,BAG62258,AAH00135,AAH00583,AAH02391,AAH13878,AAA82607,CAA90477,P52888,Q96CV8,Q9BW75,ABW03685,CBG17384,CBV30826 Hs.78769 EP24.15|MEPD_HUMAN|MP78|TOP endopeptidase 24.15|thimet oligopeptidase protein-coding 1351706 THPO thrombopoietin Megakaryocytopoiesis is the cellular development process that leads to platelet production. The protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. [provided by RefSeq] 730050,1580082,1580083,1580086,1580087,1580088,1580089,1580090,1580091,1580092,1601655,1601656,1580863 8202159,18753991,18617523,18473128,18433726,18367486,18090929,18061247,18006466,17827152,17763151,17706203,17637498,17468237,17379761,17158158,16888093,16759877,16454716,16359773,16317100,16305336,15863506,15781331,15705785,15647951,15572213,15307100,15282677,15254242,15239259,14995067,14966463,14769915,14689068,14670916,12879435,12829024,12799280,12799278,12581491,12495897,12487786,12477932,12468916,12430879,12389630,12381927,12359731,12187073,12135673,12041668,11983110,11961237,11960394,11913997,11860444,11847009,11756417,11750880,11257273,11012214,10583217,10387974,9766811,9694695,9425899,8942648,8537317,8202160,8202154,8020099,7926023,7849319,7822271,7809166,19913121,20628086,20673868,11877062,19553636,19578796,19630807,20237496,20452482,20467749 730050,1580082,1580083,1580086,1580087,1580088,1580089,1580090,1580091,1580092,1601655,1601656 7066 NM_000460,NG_012136,AC078797,CH471052,D32046,L36051,S76771,U17071,AB014681,AB014682,AB014683,AB102890,AB102894,AK311002,BC130322,BC136338,BC143982,D32047,L33410,L36052,U11025,U59493,U59494,U59495,AB102892,BX108191,NM_001177597,NM_001177598,U42977 NP_000451,EAW78243,EAW78244,EAW78245,BAA06807,AAC37568,AAB33390,AAA74083,BAA34930,BAA34931,BAA34932,BAD89419,BAD89423,AAI30323,AAI36339,AAI43983,BAA21930,AAA59857,AAC37566,AAA50553,AAB03392,AAB03393,AAB03394,P40225,Q5FBX4,Q5FBX8,BAD89421,NP_001171068,NP_001171069,O94784,Q5FBX6 Hs.1166 MGC163194|MGDF|MKCSF|ML|MPLLG|TPO MPL ligand|OTTHUMP00000210504|c-mpl ligand|megakaryocyte colony-stimulating factor|megakaryocyte growth and development factor|megakaryocyte stimulating factor|myeloproliferative leukemia virus oncogene ligand|thrombopoietin|thrombopoietin nirs variant 1 protein-coding 736295 THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian) The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 1580113,1580114,1580116,1580863,2315096,2314321,2315097 20141582,20211142,20691434,18655026,18467449,17911173,17577579,17560756,17220280,17065567,16781732,15802373,15767343,15757863,15674337,15489334,15388935,15249124,14729678,14614212,14576168,12878587,12874288,12871948,12805224,12477932,12388540,12371907,12231529,12082618,12048199,11889175,11861164,11726557,11266503,10902817,10610177,10567404,10508171,10480874,10235266,10207062,10198638,10022432,9717844,9680361,9653119,9628876,9627117,9440806,9268132,9267036,9115274,8710870,18562675,8616895,8537364,8127707,8036737,7776974,7609079,7566127,6589608,6323162,3684612,3672126,3458521,3357890,2710139,2539258,2464749,1850510,1537303,1517709,1331778,1307263,10847592,18052923,10866662,16799563,8806651,2879242,19519176,19453261,19427062,19422879,19144825,18844476,18641393,11713274,10490654,9256431,1314167,9626662,11641275,8650544,10903152,10965896,15808511,19926848,20534741,20724312,11158331,11889044,15140878,15604093,19158403,19360007,19628582,19730683,19819978,19853653,19903799,20053725,20231357,2879243,8524305,20736347 1580113,1580114,1580116,2315096,2314321,2315097 7067 NM_001190918,NM_001190919,NM_199334,NM_003250,AC068669,AC102799,CH471152,M24748,X55074,AB209346,AB307686,AF522368,AK290071,AK290530,AK311344,BC000261,BC002728,BC008851,BC035137,BQ224043,CR541915,CR596083,CR602782,J03239,M24899,M24900,X55005,Y00479,NG_023345 NP_001177847,NP_001177848,NP_955366,NP_003241,EAW60632,EAW60633,EAW60634,AAA66021,CAA38899,CAB57886,BAD92583,BAH02277,AAM77692,BAF82760,BAF83219,AAH00261,AAH02728,AAH08851,AAH35137,CAG46713,AAA61176,AAA35783,AAA52333,AAA52334,CAA38749,CAA68539,P10827,Q59FW3,Q6FH41,Q6LDR0,ABM83438,ABM86652 Hs.724 AR7|EAR7|ERB-T-1|ERBA|ERBA1|MGC000261|MGC43240|NR1A1|THRA1|THRA2|c-ERBA-1 EAR-7|ERBA-related 7|V-erbA-related protein 7|avian erythroblastic leukemia viral (v-erb-a) oncogene homolog|c-erbA-alpha|nuclear receptor subfamily 1 group A member 1|thyroid hormone receptor alpha|triiodothyronine receptor protein-coding 1314565 THRAP3 thyroid hormone receptor associated protein 3 1580863 10198638,10235266,17353931,12218053,12037571,10235267,17081983,16964243,16710414,16565220,15489334,15324660,15302935,15144186,14559993,12477932,12130544,11827452,8710870,11867769,18029348,9653119 9967 BG572651,CR614227,BC112350,NM_005119,AC114484,AL360074,AL591845,CH471059,AF117756,AI754117,AK025735,BC002501,BC010997,BC019076,BC037554,BC054046,BC065519,BC112330,FB342987,FB711110 AAI12351,Q05D20,Q6P0P7,Q6PJV4,Q7Z5U1,Q9Y2W1,ABZ92284,NP_005110,CAH71859,EAX07379,EAX07380,AAD22034,AAH02501,AAH10997,AAH19076,AAH37554,AAH54046,AAH65519,AAI12331,CAR81494,CAS91510 Hs.160211 FLJ22082|MGC133082|MGC133083|TRAP150 thyroid hormone receptor-associated protein 3|thyroid hormone receptor-associated protein complex 150 kDa component|thyroid hormone receptor-associated protein, 150 kDa subunit protein-coding 2881505 THRAP3P1 thyroid hormone receptor associated protein 3 pseudogene 1 20041166 391524 AC099540,AC115283,NG_021114 THRAP3L pseudo 734423 THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq] 1580863,2314321,2315095,2315096,2289906,2315099,2315100,2315097,1601659,2315977 20155399,20736347,19913121,19926848,20628086,20634891,20677014,20716560,20141582,20691260,20691434,7870181,15100213,15625236,1618799,19524130,19453261,19439650,19422879,19378427,19299458,19268523,19211732,19160403,19000767,18844476,18798561,18683837,18660489,18561095,18514160,18467449,18363280,18239067,17911173,17827792,17596672,17560756,17418816,17293442,17260956,17177139,16781732,16344560,16231318,16099238,15987841,15886199,15867011,15674337,15598685,15489334,15342556,15319359,15249124,15186611,15105435,15080770,14985366,14767065,14761960,14702039,14684607,14673100,12843201,12788902,12668276,12554782,12477932,12382103,12048199,12039952,12006711,11971969,11929097,11889175,11861164,11818500,11751919,11739747,11518802,11258898,10944117,10866662,10822129,10786636,10737800,10713182,10660344,10625678,10567404,10508171,10454579,10207062,9795230,9794455,9765220,9751500,9717844,9368056,9325263,9267036,9171239,8889584,8664910,8514853,8381821,8175986,7833659,7776974,7746322,3034496,2879243,2550353,2510172,2254444,2153155,1973914,1846005,1661299,1657975,1653889,1648451,9405624,1619012,1587388,1563081,1517709,1425440,1324420,1314846,9878542,11733490,11773444,11158331,10823961,10508170,11050077,10809664,12612084,15308690,10454563,9346901,20470753,11353774,12799135,15336696,15604093,16464943,16778766,19407221,19628582,19853653,19903799,19903885,20004952,20082849,20379614,20444926,20139978,21159845 2314321,2315095,2315096,2289906,2315099,2315100,2315097,1601659,2315977 7068 GQ869477,GQ919288,X04707,X74497,NM_000461,NM_001128177,NM_001128176,NG_009159,AC012087,AC093927,AC098971,AC099054,AC112217,CH471055,AB307687,AI003028,AK095776,AK096628,AK096885,AK098084,AK124042,AV747599,AW449568,AY286465,AY286466,AY286467,AY286468,AY286469,AY286470,AY286471,BC028910,BC106929,BC106930,BF854291,BP313943,BQ879477,BX489919,DA218319,M26747 ADK27482,AAA35677,CAA28412,CAA52606,P10828,ABZ92193,NP_000452,NP_001121649,NP_001121648,EAW64345,EAW64346,EAW64347,EAW64348,EAW64349,EAW64350,BAH02278,BAG53341,AAQ23704,AAQ23705,AAQ23706,AAQ23707,AAQ23708,AAQ23709,AAQ23710,AAI06930,AAI06931 Hs.728126,Hs.187861 ERBA-BETA|ERBA2|GRTH|MGC126109|MGC126110|NR1A2|PRTH|THR1|THRB1|THRB2 OTTHUMP00000208475|OTTHUMP00000208531|avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2|c-erbA-2|c-erbA-beta|nuclear receptor subfamily 1 group A member 2|oncogene ERBA2|thyroid hormone receptor beta|thyroid hormone receptor beta 1|thyroid hormone receptor beta isoform protein-coding 734265 THRSP thyroid hormone responsive (SPOT14 homolog, rat) The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq] 1580863 19913121,20628086,16712791,18299245,9003802,17418816,15489334,12960053,12477932,9777755,9618526,9389499,9371405,9186528,9027365,15342556 7069 NM_003251,AP003032,CH471076,Y08409,AK311975,BC031989,BG674197,CB122257,AI480357,AI749106,BP317892 NP_003242,EAW75045,CAA69685,BAG34914,AAH31989,Q92748,ABZ92543 Hs.591969 LPGP1|Lpgp|MGC21659|S14|SPOT14 SPOT14 homolog|lipogenic protein 1|spot 14 protein|thyroid hormone responsive (SPOT14 homolog, rat)|thyroid hormone responsive SPOT14|thyroid hormone responsive protein|thyroid hormone-inducible hepatic protein protein-coding 1315930 THSD1 thrombospondin, type I, domain containing 1 The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in thrombospondin, a number of proteins involved in the complement pathway, as well as extracellular matrix proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 18403638,17047544,15489334,15371459,15057823,14702039,12975309,12477932,7687569,18029348 55901 NM_199263,NM_018676,AL359513,CH471274,AB044385,AK096289,AK315087,AY358149,BC063842,CA446845,CR597536,CR616305,AK298974 NP_954872,NP_061146,CAH71657,CAM14602,EAW55891,EAW55892,EAW55893,EAW55894,EAW55896,BAA96553,BAG53249,BAG37552,AAQ88516,AAH63842,Q9NS62,BAG61068 Hs.325667 MGC74971|TMTSP|UNQ3010 4833423O18Rik|thrombospondin type-1 domain-containing protein 1|thrombospondin, type I, domain 1|transmembrane molecule with thrombospondin module protein-coding 1351777 THSD1P thrombospondin, type I, domain containing 1 pseudogene 374500 NR_002816,AL139082,AL158066,AK027536,AK307124,AK307345,AK309380,BX648914 Hs.553878 THSD1P pseudo 1605622 THSD4 thrombospondin, type I, domain containing 4 18488137,14702039,12975309,12477932,18519826,19240061,19734141,20010834,20379614 79875 BC140868,BX641106,BX648716,BX648747,AY358143,CR622400,AC015711,AC026636,AC064799,AC068181,AC104938,AC104943,AC105132,AC108861,CH471082,AK023772,AK130734,AK131551,AK299056,AK303870,NM_024817 AAQ88510,AAI40869,CAE46049,NP_079093,EAW77873,EAW77874,EAW77875,BAB14673,BAD18685,BAG61125,BAG64808,Q6ZMP0 Hs.387057 ADAMTSL6|FLJ13710|FVSY9334|PRO34005 OTTHUMP00000164580|thrombospondin type-1 domain-containing protein 4 protein-coding 1602056 THSD7A thrombospondin, type I, domain containing 7A 12168954,10231032,7566098,20808825,12477932,18488137,14702039,20020485,20379614,20414141 221981 NG_027670,NM_015204,AC004141,AC004160,AC004614,AC010908,AC073109,CH236948,AA297188,AA995609,AB023177,AK001884,AK092252,BC016980,CR592356,BC030083,BF111945 NP_056019,BAA76804,Q9UPZ6 Hs.120855 KIAA0960 OTTHUMP00000201531|thrombospondin type-1 domain-containing protein 7A protein-coding 1606777 THSD7B thrombospondin, type I, domain containing 7B 15815621,12477932,11214970,20379614,20686608 80731 NM_001080427,AC011231,AC012000,AC016679,AC017082,AC019067,AB051466,AK299929,BC019344,BC033125 NP_001073896,BAB21770,BAG61762,AAH19344,AAH33125,Q8WUV0,Q9C0I4 Hs.68533 KIAA1679 OTTHUMP00000204182|thrombospondin type-1 domain-containing protein 7B protein-coding 1344933 THTPA thiamine triphosphatase Thiamine triphosphatase (THTPA) catalyzes the hydrolysis of thiamine triphosphate (THTP) to thiamine diphosphate (THDP), which is the major cellular form of thiamine (vitamin B1) (Lakaye et al., 2002 [PubMed 11827967]).[supplied by OMIM] 1580863 11827967,17213182,16344560,15489334,15342556,15109578,14702039,12508121,12477932,18029348,3060175 79178 NM_024328,NR_023314,NM_001126339,AL135999,CH471078,AF432862,AK057691,AK098604,BC002984,BI522644,BP358780,BU535676,BX161435,CR595329,CR615822,CR620260,CR626464,DB257923,DT220066 NP_077304,NP_001119811,EAW66140,EAW66141,AAM22403,BAB71546,AAH02984,CAD61907,Q9BU02 Hs.655179 MGC2652|THTP|THTPASE thiamine-triphosphatase protein-coding 1318865 THUMPD1 THUMP domain containing 1 17081983,15489334,14702039,12477932,10493829 55623 NM_017736,AC004381,CH471228,AK000281,AK294328,BC000448,BX640898 NP_060206,AAC31666,EAW66830,EAW66831,EAW66832,BAA91050,BAG57600,AAH00448,CAE45945,O60362,Q6MZT3,Q9NXG2 Hs.460232 DKFZp686C1054 OTTHUMP00000162296|THUMP domain-containing protein 1 protein-coding 2947545 THUMPD1P1 THUMP domain containing 1 pseudogene 1 391276 AF227510,NG_021991 pseudo 1315745 THUMPD2 THUMP domain containing 2 1580863 18957941,15489334,14702039,12477932,12063391,9373149,8125298 80745 HH961786,NM_025264,NR_028102,AC007246,AC007253,AF380576,CH471053,AF380577,AF380578,AF380579,AK057801,AK093580,AK226034,AK292002,AK298178,AK301353,AK307754,AL832115,BC004163,BC013299,DC379776 CBX51366,NP_079540,AAX93065,AAY14769,AAL26317,AAL26318,EAX00339,EAX00340,EAX00341,EAX00342,AAL18604,AAL18605,AAL18606,BAB71581,BAG52741,BAF84691,BAG60449,BAG62898,AAH04163,AAH13299,Q53TT8,Q53TV0,Q969Z2,Q9BTF0,ACE87152,ACE86471 Hs.468254 C2orf8|MGC2454 OTTHUMP00000128342|SAM-dependent methyltransferase|THUMP domain-containing protein 2 protein-coding 1348857 THUMPD3 THUMP domain containing 3 737633,1580863 15231747,16344560,15489334,14702039,12477932 737633 25917 NM_001114092,AC018506,AC026191,CH471055,AK001680,AK023263,AL080228,AL117483,BC001622,BC010421,CR603369,NM_015453,DA713744,CR615742 NP_056268,NP_001107564,EAW63954,EAW63955,EAW63956,EAW63957,EAW63958,EAW63959,BAA91832,BAB14495,CAB55956,AAH01622,AAH10421,Q9BV44 Hs.443081 DKFZp434F091 OTTHUMP00000207150|THUMP domain-containing protein 3 protein-coding 735861 THY1 Thy-1 cell surface antigen 1580863 19538887,19615261,15004192,7513706,11256614,2864289,15093746,19341705,19324083,19267366,18976167,18556592,18389476,18242515,17952444,17884967,17007050,16531284,16381901,16374458,16007174,15897908,15850796,15489336,15489334,15218185,15104276,14702039,14507638,12781446,12477932,12074634,11860231,11485909,11230166,11076863,10944468,10708443,8752941,7683034,7479964,6130472,3917857,2884261,2864690,1351058,1347022,20463011,17243294,19724880,19737398,19921696,20043075,20478055,20562849 7070 NM_006288,AP003396,CH471065,EF445035,M11749,AB209209,AF261093,AK057865,AK090644,AK090996,AK094374,AK314018,AL161958,BC005175,BC037832,BC065559,BM504140,CR591012,CR591889,CR591952,CR593312,CR593600,CR595502,CR596707,CR598177,CR600564,CR601651,CR601828,CR602361,CR602362,CR604314,CR605324,CR608140,CR608854,CR609185,CR610225,CR610364,CR612047,CR612556,CR613179,CR614097,CR614649,CR616764,CR617654,CR619576,CR620144,CR620763,CR620874,CR621600,CR622729,CR622970,CR624668,CR626049,S59749 NP_006279,EAW67488,EAW67489,EAW67490,ACA06081,ACA06082,AAA61180,BAD92446,AAG13904,BAG52205,BAG52259,BAG36729,CAB82306,AAH65559,AAB26353,P04216,Q59GA0,Q9HBB0,CAL37910,CAL38092,ABM85937,ABM85939,ABW03761 Hs.644697,Hs.724411 CD90|FLJ33325 CDw90|Thy-1 T-cell antigen|thy-1 antigen|thy-1 membrane glycoprotein|thymus cell antigen 1, theta protein-coding 1606014 THYN1 thymocyte nuclear protein 1 This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 14601557,19237743,15939300,15489334,14580360,12477932,12384300,12107411,11042152,8889548 29087 BC093074,BQ640137,BQ959408,BU658940,BU685681,BU934600,CR608028,NM_199297,NM_199298,NM_001037304,NM_001037305,AP000859,CH471065,AF059619,AF087886,AF161493,AF182413,AK308498,AK311024,BC006978,NM_014174 AAH06978,AAH93074,Q9P016,NP_054893,NP_954994,NP_954995,NP_001032381,NP_001032382,EAW67828,EAW67829,EAW67830,EAW67831,EAW67832,AAG43118,AAP97185,AAF29108,AAG14949 Hs.13645 HSPC144|MDS012|MGC12187|MY105|THY28|THY28KD thymocyte nuclear protein 1|thymocyte protein thy28 protein-coding 1313955 TIA1 TIA1 cytotoxic granule-associated RNA binding protein The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. [provided by RefSeq] 1580863 1934064,12486009,19386911,19110540,18775331,18753794,18642007,18456862,18201561,17711853,17599736,17580305,17493234,17488725,17135269,16820934,16344560,16227602,16094384,15146197,14966131,14702039,12949814,12885872,12855701,12641788,12477932,11106748,10599307,8576255,8176212,7544399,2104899,20675271,15280467,20599318,18377426,19615357,19641607 7072 AB209211,NM_022037,NM_022173,AC016700,CH471053,S70114,AK093744,AK303345,BC015944,BM146739,CN295707,CR597363,CR607569,CX867570,DB136383,DR157578,M77142 P31483,Q59G98,Q96B58,BAD92448,NP_071320,NP_071505,AAX93193,EAW99823,EAW99824,EAW99825,EAW99826,EAW99827,AAD14053,BAG64407,AAH15944 Hs.727512 TIA-1 OTTHUMP00000204010|OTTHUMP00000204044|RNA-binding protein TIA-1|T-cell-restricted intracellular antigen-1|TIA1 cytotoxic granule-associated RNA-binding protein|cytotoxic granule-associated RNA-binding protein|nucleolysin TIA-1 isoform p40|p40-TIA-1 (containing p15-TIA-1) protein-coding 1347074 TIAF1 TGFB1-induced anti-apoptotic factor 1 1580863 9918798,17081983,15491607,15489334,14965474,14702039,14676191,12829915,12477932,10733938,9039502,18276110 9220 NM_004740,AC024619,CH471159,AF105277,AK054958,AK126861,BC047669,BC058075,BC131561 NP_004731,EAW51180,AAD04172,AAH47669,AAH58075,AAI31562,O95411 Hs.462590,Hs.726139 MAJN|MYO18A|MYSPDZ|SPR210 12 kDa TGF-beta-1-induced antiapoptotic factor|OTTHUMP00000223459|TGF-beta-1-induced antiapoptotic factor 1|TGFB1-induced anti-apoptotic factor 1|molecule associated with Jak-3 N-terminal protein-coding 1345557 TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1 The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq] 1580863 1326761,9207209,19110540,18456862,18201561,17869012,17682065,17512901,17488725,17486099,16890199,16581801,16537914,16243297,16191398,16091628,15592455,15514971,15304326,15280467,14736875,14702039,12917321,12855701,12533540,12477932,12426321,12414941,12356730,11514562,10700014,8576255,7533298,19805546,20675271 7073 BC128141,CR609669,CR621940,D64015,M96954,NM_001033925,NM_003252,AC012468,CH471066,AA972022,AB209260,AK125264,AK290695,AK290984,AK291239,AK295243,AL833106,AW129760,AY633610,BC030025,BC128140 BAA21559,AAA36384,O15187,Q01085,Q2TSD2,Q49AS9,Q59G49,NP_001029097,NP_003243,EAW49385,EAW49386,EAW49387,EAW49388,BAD92497,BAF83384,BAF83673,BAF83928,BAG58235,AAV33303,AAH30025 Hs.501203 MGC33401|TCBP|TIAR T-cluster binding protein|TIA-1 related protein|TIA-1-related nucleolysin|TIA-1-related protein|TIA1 cytotoxic granule-associated RNA-binding protein-like 1|aging-associated gene 7 protein|nucleolysin TIAR protein-coding 1316657 TIAM1 T-cell lymphoma invasion and metastasis 1 1580863 17003780,16195373,16192287,15899863,15723052,15655826,15479739,15340013,15324660,15295645,15242348,14988728,14702039,12810717,12531897,12477932,12446731,12376551,12134164,12024021,11595749,11274357,11130063,10893266,10830953,10636882,10212259,9128250,8619474,8595894,7753201,7736788,7731688,15721239,20802514,10835422,19285946,19095647,19082465,18972435,18826597,18805958,18675922,18006851,17702746,17376711,17219408,17132223,17086355,17822624,11756498,12376548,12787561,17584632,19218104,19246286,19276682,19506399,19911011,20018857,20215110,20360004,20361982,20379614,20444703,20801718,20522449 7074 CR597039,CR621473,U16296,U90902,X86351,NM_003253,AP000246,AP000247,AP000248,AP000249,AP000250,AP000251,AP000563,CH471079,AB209101,AK093621,AK124647,BC117192,BC117196,BC143970,BC143980,HI179082 AAA98443,Q13009,Q59GK8,NP_003244,EAX09895,BAD92338,AAI17193,AAI17197,AAI43981,CBX53849 Hs.517228 FLJ36302 T-lymphoma invasion and metastasis-inducing protein 1|TIAM-1|human T-lymphoma invasion and metastasis inducing TIAM1 protein protein-coding 1345903 TIAM2 T-cell lymphoma invasion and metastasis 2 This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 15342556,12477932,11900975,10512681,10364228,11756498,12376548,12787561,15723051,20379614 26230 NM_012454,NM_001010927,AL139101,AL355343,AL596202,CH471051,AF120323,AF120324,AF195656,AK123859,AK125459,AK299723,AK302860,AL122086,BC022469,BC066979,BC137275,BP199501 NP_036586,NP_001010927,CAI20508,CAH73978,CAI14404,EAW47692,EAW47693,AAF05900,AAF05901,AAF03902,BAG53973,BAC86170,BAH13110,BAH13824,CAB59259,AAH66979,AAI37276,Q59EY7,Q5VYA4,Q8IVF5,Q9UJV7 Hs.586279 FLJ41865|STEF|TIAM-2 OTTHUMP00000017472|SIF and TIAM1-like exchange factor|T-lymphoma invasion and metastasis-inducing protein 2 protein-coding 1603893 TICAM1 toll-like receptor adaptor molecule 1 TRIF, or TICAM1, is a Toll/IL1R (MIM 147810) (TIR) domain-containing adaptor molecule, like MYD88 (MIM 602170) and TIRAP (MIM 606252), that induces interferon-beta (IFNB; MIM 147640), specifically interacts with TLR3 (MIM 603029), and activates nuclear factor kappa-B (NFKB; see MIM 164011).[supplied by OMIM] 20588308,20418377,20855887,20452988,8619474,15251447,12721283,12761501,12609980,12692549,12855817,14556004,15064760,19028691,18987746,18810425,18756281,18571728,18450748,17982077,16964262,16306936,16153868,16052631,15940673,15814722,15767257,15611223,15474016,14982987,14960149,14739303,14530355,14519765,14517278,12539043,12477932,12471095,9110174,20306472,20375303,10066798,15276183,16323247,16968706,19423540,19543401,19656901,19795416,20047764,20200155,20331378,20406964,20438785,16115877,21048031 148022 NM_182919,AC027319,CQ871232,AB086380,AB093555,AB097023,AB446484,AF070530,AF492646,BC009860,BC035331,BC136556,BC136557,CA308725,CR592986,DR000002 NP_891549,CAH56797,BAC55579,BAC44839,BAC77376,BAG55261,AAC28630,AAO85488,AAH09860,AAI36557,AAI36558,Q8IUC6 Hs.29344 MGC35334|PRVTIRB|TICAM-1|TRIF TIR domain containing adaptor inducing interferon-beta|TIR domain-containing adapter molecule 1|TIR domain-containing adapter protein inducing IFN-beta|TIR domain-containing adaptor molecule 1|proline-rich, vinculin and TIR domain-containing protein B|putative NF-kappa-B-activating protein 502H|toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta protein-coding 1317929 TICAM2 toll-like receptor adaptor molecule 2 TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM] 1580863 12721283,15276183,20379614,14556004,19543401,19412184,18810425,18297073,17372010,16603631,16344560,14519765,14517278,12477932,10810093,9490301,20802145,12761501,16115877 353376 AC010226,CH471086,AB002444,AB091054,AB097022,AB109098,AB446491,AY232653,AY304582,BC109265,BC109266,CA441688,DA899189,NM_021649,BX956265,CD638761,DA992598 NP_067681,EAW48960,BAC98397,BAC77375,BAC98399,BAG55268,AAO74498,AAQ97431,AAI09266,AAI09267,Q86XR7 Hs.723696,Hs.709120 MGC129876|MGC129877|TICAM-2|TIRAP3|TIRP|TRAM NF-kappa-B-activating protein 502|OTTHUMP00000207407|TIR domain-containing adapter molecule 2|TIR-containing adapter molecule-2|TRIF-related adapter molecule|TRIF-related adaptor molecule|cytoplasmic adaptor|putative NF-kappa-B-activating protein 502|toll-like receptor adaptor protein 3|toll/interleukin-1 receptor (TIR) domain-containing adapter protein|toll/interleukin-1 receptor domain-containing protein protein-coding 1346429 TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 19913121,20628086,19167335,1312667,7596437,19236867,18675456,18593464,17786322,17728252,17724803,15489334,15340161,12477932,12115483,11920509,11866538,11865050,10995770,10949653,10474040,10430078,9373149,8547681,8125298,7655012,10051567,19880500,20164029,20227369,20346360 7075 EU826586,EU826587,NM_005424,AC093420,AL139289,CH471059,CS305264,CS322899,S79347,AF217976,AK225560,AK296735,AK300399,AK300623,AK307639,AL833389,BC038239,CR601214,EU826588,EU826589,EU826590,X60957 ACF47622,NP_005415,CAI23385,CAI23386,EAX07106,EAX07107,CAK49654,CAK96151,AAD14299,AAG17219,BAG59322,BAG62130,BAG62316,AAH38239,ACF47623,ACF47624,ACF47625,ACF47626,CAA43290,P35590,Q6LD63,Q9HBS4 Hs.78824 JTK14|TIE receptor tyrosine kinase|soluble TIE1 variant 1|soluble TIE1 variant 2|soluble TIE1 variant 3|soluble TIE1 variant 4|soluble TIE1 variant 5|tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1|tyrosine-protein kinase receptor Tie-1 protein-coding 1606192 TIFA TRAF-interacting protein with forkhead-associated domain 16643855,16189514,15492226,12761501,12566447,12477932,11798190,8889548,1179819,15047173,20332099 92610 NM_052864,AC109347,CH471057,AB062110,AB097011,AB097038,AK292900,BC008294,BC014259,BM680110,BM718895,CA772080,CR599623,CR623539 NP_443096,AAY40963,EAX06273,BAB86902,BAC77364,BAC77391,BAF85589,AAH08294,AAH14259,Q96CG3,ABM84607,ABM87121 Hs.310640 MGC20791|T2BP|T6BP|TIFAA OTTHUMP00000219664|TRAF-interacting protein with FHA domain-containing protein A|TRAF-interacting protein with a forkhead-associated domain|TRAF2 binding protein|TRAF2-binding protein|TRAF6 binding protein|putative MAPK-activating protein PM14|putative NF-kappa-B-activating protein 20 protein-coding 2291818 TIFAB TRAF-interacting protein with forkhead-associated domain, family member B TIFAB associates with TIFA (MIM 609028) and inhibits TIFA-mediated activation of NF-kappa-B (NFKB1; MIM 164011) (Matsumura et al., 2004 [PubMed 15047173]).[supplied by OMIM] 15047173,14702039,11181995 497189 NM_001099221,AC022092,CH471062,AB161513,BX119085 NP_001092691,EAW62215,BAD89018,Q6ZNK6 Hs.552091 FLJ00292 TIFA-like protein|TIFA-related protein TIFAB|TRAF-interacting protein with FHA domain-containing protein B protein-coding 1344912 TIGD1 tigger transposable element derived 1 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq] 1580863 15815621,15489334,14702039,12477932,8917322,8643651 200765 NM_145702,AC092165,CH471063,U49973,AK056329,BC035143,BC063500 NP_663748,AAY24104,EAW71006,AAB61714,BAB71153,AAH35143,AAH63500,Q13537,Q96MW7 Hs.211823 EEYORE jerky homolog-like|tigger transposable element-derived protein 1 protein-coding 1351821 TIGD1L tigger transposable element derived 1-like 414771 AL137624 bCX111D4.7|bPG70P20.2|bQB10J12.1 protein-coding 1348664 TIGD2 tigger transposable element derived 2 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq] 16712791,15815621,15342556,8917322,8889548,8643651 166815 NM_145715,AC104785,CH471057,AK027653,AL833679,BP334478,BU742379,CB130942 NP_663761,AAY40951,EAX06031,BAG51362,Q4W5G0 Hs.58924 DKFZp667D1322 tigger transposable element-derived protein 2 protein-coding 1313398 TIGD3 tigger transposable element derived 3 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq] 15489334,12477932,8889548 220359 NM_145719,AC000353,AP000944,CH471076,AL558462,BC074862,BU741546,CR599655,DR002049 NP_663771,EAW74378,AAH74862,Q6B0B8 Hs.632121 tigger transposable element-derived protein 3 protein-coding 1314017 TIGD4 tigger transposable element derived 4 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 1580863 14702039,17207965,20211142,15489334,12477932 201798 NM_145720,AC106882,CH471056,AK058054,BC037869 ADQ32517,NP_663772,EAX04973,BAB71642,AAH37869,Q8IY51 Hs.301243 MGC43837 tigger transposable element-derived protein 4 protein-coding 1323107 TIGD5 tigger transposable element derived 5 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq] 15489334,14702039,12477932,9373149 84948 NM_032862,AC067930,CH471162,AK027832,AK223583,BC032632,BC069229 NP_116251,EAW82226,BAB55398,BAD97303,AAH32632,AAH69229,Q53EQ6,Q6NT83 Hs.71574 FLJ14926|MGC44883 OTTHUMP00000221757|tigger transposable element-derived protein 5 protein-coding 1343289 TIGD6 tigger transposable element derived 6 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 1580863 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 81789 NM_030953,AC011406,CH471062,AK056604,AK092978,AK096325,AL136539,BC117249,CR533559,CR604620 NP_112215,EAW61753,BAB71230,BAG53260,CAB66474,AAI17250,CAG38590,Q17RP2,CAL38633 Hs.169333 DKFZp761E2110 OTTHUMP00000224089|tigger transposable element-derived protein 6 protein-coding 1346517 TIGD7 tigger transposable element derived 7 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq] 15489334,15487591,14702039,12477932 91151 AK308054,NM_033208,AC004232,AF251050,AI925903,BC069623,BC069632,BX463753,DC351858 NP_149985,AAK34940,AAH69623,AAH69632,Q6NT04 Hs.726686,Hs.161287 FLJ98002|FLJ99447|Sancho OTTHUMP00000159671|jerky homolog-like|tigger transposable element-derived protein 7 protein-coding 1606681 TIGIT T cell immunoreceptor with Ig and ITIM domains This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses. 19011627,19197944,14702039,12477932,19815499 201633 NM_173799,AC093010,CH471052,AK097192,AL833175,BC101288,BC101289,BC101290,BC101291,BX640915,EU675310 NP_776160,EAW79602,BAC04973,CAI46183,AAI01289,AAI01290,AAI01291,AAI01292,CAE45956,ACD74757,Q495A1 Hs.421750 DKFZp667A205|FLJ39873|VSIG9|VSTM3|WUCAM OTTHUMP00000214903|OTTHUMP00000214904|OTTHUMP00000214905|OTTHUMP00000214906|T cell immunoreceptor with Ig and ITIM domains|V-set and immunoglobulin domain containing 9|V-set and immunoglobulin domain-containing protein 9|V-set and transmembrane domain containing 3|V-set and transmembrane domain-containing protein 3|Washington University cell adhesion molecule protein-coding 1353666 TIMD4 T-cell immunoglobulin and mucin domain containing 4 737633,1580863 19392790,19217291,19060906,18294362,18083575,18082433,17439824,17207965,20972250,21037090,17407086,16940744,15489334,12477932,20656318,20140011,20237496 737633 91937 NM_138379,NM_001146726,AC008491,AC026777,CH471062,AA843555,AK131025,AK301337,AK312746,BC008988,CR603034 NP_612388,NP_001140198,EAW61617,BAG62885,AAH08988,Q96H15,ADQ32747 Hs.334907 FLJ27515|SMUCKLER|TIM4 T-cell immunoglobulin and mucin domain-containing protein 4|T-cell membrane protein 4|TIM-4|TIMD-4 protein-coding 731567 TIMELESS timeless homolog (Drosophila) 20211142,20980603,10428031,15798197,9856466,9856465,17102137,19470168,18228528,17909269,17296725,17141802,17116885,17081983,16964243,16507006,15946665,15565336,15489334,15342556,15302935,15300647,14985107,14702039,14637143,12875843,12477932,11382904,9891984,18451105,19693801,19839995,19934327,19996108,20072116,20124417,20149345,20174623,20180986,20379614,19913121,20554694,20628086 8914 NM_003920,AC024884,CH471054,EU627094,AB015597,AF098162,AK000721,AK022702,AK296869,AY207390,BC031514,BC039842,BC050557,BE503292,BP363571,BX640990,CR596590,CR624744 NP_003911,EAW96939,ACD11488,BAA36499,AAC80011,BAG51106,BAG59432,AAH39842,AAH50557,CAE45996,Q6MZN3,Q9UNS1 Hs.118631 FLJ12640|FLJ20714|TIM|TIM1|hTIM protein timeless homolog protein-coding 734114 TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast) TIMM10 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM] 16712791,10552927,16669873,16387659,15489334,14726512,12882976,12477932,12138093,11489896,10611480,9430585,20877624 26519 NM_012456,AP002893,CH471076,AF150089,AF152354,AI498204,AK289751,BC032133,CB106298 NP_036588,EAW73753,AAD39995,AAF15104,BAF82440,AAH32133,P62072 Hs.235750 TIM10|TIM10A mitochondrial import inner membrane translocase subunit Tim10 protein-coding 1352849 TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) This gene encodes a translocase with similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm and into the mitochondrial inner membrane. The encoded protein and the TIMM8a protein form a 70 kDa complex in the intermembrane space. This gene is in a head-to-tail orientation with the gene for lamin B2. [provided by RefSeq] 1580863 17353931,10552927,17329230,15489334,15254020,12477932,12221072,12191765,12185844,12154367,11875042,11798021,11489896,11450972,11101512,10611480 26517 NM_012458,AC011522,CH471139,AF144700,AF152352,AK024764,BC008607,BI908100,CR608783,CR610182,CR614952,CR621909 NP_036590,EAW69380,EAW69381,AAD39951,AAF15102,AAH08607,Q9Y5L4,ABM82681,ABM85863 Hs.75056 TIM13|TIM13B|TIMM13A|TIMM13B|ppv1 mitochondrial import inner membrane translocase subunit Tim13|mitochondrial import inner membrane translocase subunit Tim13B protein-coding 733790 TIMM17A translocase of inner mitochondrial membrane 17 homolog A (yeast) 737677,1580863 17207965,20877624,16169070,20053669,10339406,18826960,16344560,15489334,14702039,12477932,12119107,10393182,8893850,20198662 737677 10440 NM_006335,AC099676,BN000001,CH471067,AF106622,AK023063,AK315602,AU123184,BC000294,BC004439,BC007106,BC009784,BC013823,BC015098,BC016817,BC020833,CR619422,CR622416,CR622946,X97544 ADQ32814,NP_006326,CAD29856,EAW91383,EAW91384,EAW91385,AAD19596,BAG37972,AAH00294,AAH04439,AAH07106,AAH09784,AAH15098,AAH16817,AAH20833,CAA66146,Q7RU05,Q99595 Hs.20716 TIM17|TIM17A inner membrane preprotein translocase Tim17a|mitochondrial import inner membrane translocase subunit Tim17-A|mitochondrial inner membrane translocase|preprotein translocase protein-coding 1350623 TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) 737677,1580863 10339406,15772651,15489334,12477932,11042152,9931253,18029348,19377476,19596235 737677 10245 BC091473,CR590343,CR591346,CR593692,CR615547,NM_005834,AF196971,AF207550,CH471224,AF034790,AF077039,AJ005895,AK290207,BC010142,BC028017,BC029446,CA421979,CB993524,NG_015968,NM_001167947 AAH29446,O60830,Q8NCS3,NP_005825,EAW50739,EAW50740,EAW50741,AAC24694,AAD27772,CAA06752,BAF82896,AAH10142,NP_001161419 Hs.30570 DXS9822|JM3|TIM17B inner mitochondrial membrane preprotein translocase|mitochondrial import inner membrane translocase subunit Tim17-B protein-coding 1345582 TIMM22 translocase of inner mitochondrial membrane 22 homolog (yeast) 1580863 15489334,14726512,14702039,12477932,11864609,10611480,9373149,8125298,11591653,20877624 29928 NM_013337,AC015884,CH471108,AF155330,AK000830,AK225453,BC002324,CR607232,CR622134 NP_037469,EAW90637,EAW90638,AAD40106,BAA91392,AAH02324,Q9Y584 Hs.592108 TEX4|TIM22 mitochondrial import inner membrane translocase subunit Tim22|putative membrane protein|testis-expressed sequence 4 protein-coding 732380 TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) 737677,1580863 15044455,10339406,15489334,12477932,12437925,10393182,9373149,8125298,14702039,15164054,18029348,20139978 737677 100287932 AK304883,AY442341,BC062707,BC066951,CR592367,CR592829,CR615767,CR618692,CR619494,CR621868,NM_006327,AL450342,AF030162,AF116628,AK223331,AK098044,AK295370,AK316549 BAD97051,BAG65620,AAR14723,AAH62707,AAH66951,O14925,Q9P1K1,NP_006318,CAI14480,CAI14481,CAI14482,AAB84060,AAF71051,BAG58330,BAG65627 Hs.524308,Hs.661964,Hs.620085 FLJ40725|FLJ56773|FLJ57459|FLJ79448|MGC22767|MGC71995|MGC87383|PRO1197|TIM23 OTTHUMP00000019591|OTTHUMP00000019592|mitochondrial import inner membrane translocase subunit Tim23 protein-coding 1347528 TIMM23B translocase of inner mitochondrial membrane 23 homolog B (yeast) 15164054 653252 AL672187,CR596190,AL442003,AL450342,AL589822,XM_003118952,XM_003118953,XM_003118954,AK293228,AK295227 CAI16097,CAI16098,Q5SRD1,XP_003119000,XP_003119001,XP_003119002,BAG56767,BAG58220 Hs.499594,Hs.620085 bA592B15.7 putative mitochondrial import inner membrane translocase subunit Tim23B|translocase of inner mitochondrial membrane 23 homolog B (yeast) protein-coding 734087 TIMM44 translocase of inner mitochondrial membrane 44 homolog (yeast) 737677,1580863 12620389,10339406,15489334,12477932,10848612,10393182,9373149,8125298,12677068,20471030,20053669,20877624 737677 10469 AC010336,CH471139,AF026030,AF041254,AK223062,AK289634,AK309415,BC033628,CR595021,CR597337,CR597878,NM_006351,CR600181,CR611101,CR627419 ABM82227,ABM85412,Q9UPE4,NP_006342,EAW68954,EAW68955,AAD01797,AAB97740,BAD96782,BAF82323,AAH33628,CAH10507,O43615,Q53G69,Q6AI07 Hs.465784 DKFZp686H05241|TIM44 mitochondrial import inner membrane translocase subunit TIM44|mitochondrial inner membrane translocase|translocator of inner mitochondrial membrane 44 protein-coding 1606193 TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 15044455,16008839,15489334,14702039,12620389,12477932,12437925,16169070,17353931 92609 NM_001001563,AC011500,CH471126,AK092396,AK097291,AK098197,AY444561,AY551341,BC009072,BC010736,BC014674,BC050082,BC121146,BC121147,BE386959,BI856163,BQ925812,BU540967,CR596130,CR605554,CR612446,CR613215,CR615287,CR617770,CR617826,CR621888,CR593054 NP_001001563,EAW56901,EAW56902,EAW56903,AAS68537,AAT01208,AAH09072,AAH10736,AAH50082,AAI21147,AAI21148,Q0VAB1,Q330K1,Q3ZCQ8 Hs.590956,Hs.597106 MGC102733|TIM50|TIM50L Tim50-like protein|homolog of yeast Tim50|mitochondrial import inner membrane translocase subunit TIM50 protein-coding 1350353 TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863,1600152 15710860,15489334,15254020,15146197,14509668,12745081,12477932,11956200,11875042,11803487,11601506,11489896,11405816,11101512,10878669,10873677,10611480,10552927,10051608,10051550,7959728,7643352,19615732,17353931,8841189,18029348,17999202,17534980,16411215,16332536,15772651,19913121,20628086 1600152 1678 NM_004085,NM_001145951,NG_011734,AL035422,CH471115,AK312117,AW204693,BC005236,BC006994,BC015093,BC070284,BM467820,BQ013177,CN410182,U66035 NP_004076,NP_001139423,CAB55875,EAX02853,EAX02854,BAG35053,AAH06994,AAH15093,AAH70284,AAC15946,O60220 Hs.447877 DDP|DDP1|DFN1|MGC12262|MTS|TIM8 X-linked deafness dystonia protein|deafness dystonia protein 1|deafness/dystonia peptide|mitochondrial import inner membrane translocase subunit Tim8 A protein-coding 1626560 TIMM8AP translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 8841189 399520 NG_003187,AC008063,U66034 DDPP|TIMM8AP pseudo 734090 TIMM8B translocase of inner mitochondrial membrane 8 homolog B (yeast) This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma. 1580863 17353931,10552927,15489334,12477932,10611480,8889548,19913121,20628086,20877624 26521 AK312169,BC000711,BC105986,BC106067,CF541334,NM_012459,NR_028383,AP002007,CH471065,EF445036,AF150087,AF152350,AF165967,AK025397,NG_012337 BAG35103,AAH00711,AAI05987,AAI06068,Q9Y5J9,NP_036591,EAW67180,ACA06083,AAD39994,AAF15100,AAD51801 Hs.279915,Hs.530373 DDP2|FLJ21744|MGC102866|MGC117373|TIM8B DDP-like protein|OTTHUMP00000221758|deafness dystonia protein 2|mitochondrial import inner membrane translocase subunit Tim8 B protein-coding 1352655 TIMM9 translocase of inner mitochondrial membrane 9 homolog (yeast) TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM] 1580863 10552927,16387659,15489334,14726512,12477932,12138093,11489896,10611480,17207965,18029348,20877624 26520 NM_012460,AL139021,CH471061,AF150100,AF152353,AK000666,AK312095,BC020213,BC054875 NP_036592,EAW80735,EAW80736,EAW80737,EAW80738,AAD40006,AAF15103,BAG35031,AAH20213,AAH54875,Q9Y5J7,ADQ32389 Hs.440525 TIM9|TIM9A OTTHUMP00000179028|mitochondrial import inner membrane translocase subunit Tim9 protein-coding 1347215 TIMP1 TIMP metallopeptidase inhibitor 1 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq] 2290466,2290349,2290345,2290356,2290399,1600154,2290467,2290351,2290353,2290348,1642026,2312465,2290354,2290364,2312481,2298520,2312464,2298523,2312468,2290346,2290468,2290352,2290343,2290350,2312467,1580145,1580146,1580147,1580148,1580155,1580156,1580157,1580159,1580160,1580161,1580162,1580163,1580164,1580165,1580166,1580167,1580168,1580169,1580170,1580171,1580172,1580863 20584750,12626459,12620441,12614934,12612199,12538453,12496489,12479097,12477932,12475252,12452001,12406369,12376362,12218659,12150976,12147251,12082592,12063180,12034345,12032189,11940298,11935340,11876751,11796725,11762702,11705862,11606052,12634064,11279011,10623524,10441576,10233411,10071915,9778693,9288970,9286280,9063449,8757599,7507419,3903517,3688834,3460333,3010309,2921031,2171551,2163605,1730286,1420137,12081564,15225209,20556397,20655547,20798956,21115936,20298300,17878270,15028476,12651627,11598182,12714508,2251898,3839290,1653055,19513566,19390929,19383344,19383343,19383295,19358835,19336475,19331801,19288452,19141395,19036126,19020757,19019896,18984437,18945772,18854176,18850474,18692810,18645261,18636124,18634035,18630499,18502033,18487063,18477480,18474748,18395263,18391843,18385523,18298349,18292822,18291374,18273688,18236174,18217401,18214300,18159069,18063811,18049028,18042068,18034264,18025061,17998244,17928006,17920311,17899257,17893005,17786346,17763191,17726014,17703334,17660250,17634538,17589947,17564313,17549663,17543340,17493602,17489740,17478562,17409012,17380436,17350093,17340613,17301822,17299802,17226791,17222415,17209789,17205957,17202148,17192464,17182940,17136882,17114213,17072372,17071711,17050530,17012236,17009408,17008230,16996520,16960901,16940985,16935611,16931892,16880228,16877361,16864898,16840178,16786122,16772717,16767366,16754484,16740002,16631927,16615041,16555295,16496359,16474379,16410344,16407831,16372907,16335952,16303743,16289162,16288711,16280123,16269968,16263699,16219294,16169070,16107690,16103240,16100012,16061701,16042227,16019435,16005367,15944607,15896974,15890357,15888067,15867221,15841325,15818737,15797648,15754388,15754326,15616792,15557756,15530852,15516987,15515157,15494493,15489334,15485866,15479729,15465038,15363818,15363817,15340161,15313474,15287862,15277439,15248826,15161657,15073104,15051730,14983226,14973177,14962256,14871825,14734567,14710472,14688084,14669348,14661256,14652000,14648584,14622947,14605322,14517716,12970724,12951656,12921631,12904305,12873541,12869573,12861139,12846741,12791318,12771930,12717827,12704667,18683786,19913121,20514432,20587546,20616161,20628086,20628624,17045024,20673868,20707923,20030715,20545310,17572998,19012952,19653096,20388222,20459644,17456311,12834347,14630798,16191301,16917503,17162914,18787947,19246282,19387352,19430729,19464975,19506087,19524176,19551542,19560452,19596921,19608737,19609944,19629003,19637058,19717938,19723139,19723899,19728856,19747478,19758569,19766963,19781774,19796534,19814619,19875168,19887890,19889076,19904223,19911067,20021931,20041335,20051489,20095885,20164040,20371206,20452482,20484597,20111696,20305574,20533294 2290466,2290349,2290345,2290356,2290399,1600154,2290467,2290351,2290353,2290348,1642026,2312465,2290354,2290364,2312481,2298520,2312464,2298523,2312468,2290346,2290468,2290352,2290343,2290350,2312467,1580145,1580146,1580147,1580148,1580155,1580156,1580157,1580159,1580160,1580161,1580162,1580163,1580164,1580165,1580166,1580167,1580168,1580169,1580170,1580171,1580172 7076 NG_012533,AY932824,CH471164,D11139,L47361,Z84466,AK074854,AK296116,AK310206,AK311937,NM_003254,BC000866,BC007097,BQ181804,BU857950,CR407638,CR541982,CR590572,CR593351,CR602090,M12670,M59906,S68252,X02598,X03124,A10416,HI574166,FB571112,FB668243 NP_003245,AAX47478,EAW59315,EAW59316,BAA01913,AAA75558,CAI42463,CAI42464,CAI42465,CAI42466,CAI42467,BAG52016,BAG58865,BAG34878,AAH00866,CAG28566,CAG46779,AAA52436,AAA63234,AAD14009,CAA26443,CAA26902,P01033,Q58P21,Q5H9A7,Q6FGX5,CAA00898,ABM82048,ABM85227,CBX47572,CAR95107,CAS92765 Hs.522632 CLGI|EPA|EPO|FLJ90373|HCI|TIMP OTTHUMP00000023216|TIMP-1|collagenase inhibitor|erythroid potentiating activity|erythroid-potentiating activity|fibroblast collagenase inhibitor|metalloproteinase inhibitor 1|tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)|tissue inhibitor of metalloproteinases 1 protein-coding 733906 TIMP2 TIMP metallopeptidase inhibitor 2 This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq] 1580650,1580161,2290349,2290352,2290394,2290395,2290398,2290436,2290406,1600154,2290397,2290392,2290408,2290360,2290359,2312481,2298521,2312468,2290402,2290407,2290358,2290466,2290468,2290467,1580653,1580169,1580863 20233321,20149706,19709349,17207965,20718757,20948207,20195229,16623785,2157214,19187648,19141395,19088110,19020757,18702016,18674955,18634035,18543216,18498066,18487063,18477480,18474097,18472160,18469019,18424416,18329693,18301898,18291374,18288718,18265895,18260263,18217401,18177649,18042068,18025061,17991754,17979129,17954022,17901377,17893005,17886098,17868665,17786346,17706812,17613170,17589947,17572184,17564313,17495113,17493602,17493172,17448043,17374529,17350093,17342343,17325663,17236757,17226791,17222415,17203468,17130843,17106248,17071711,17030988,17008230,16940985,16776850,16772717,16728425,16723886,16716258,16631927,8810321,17353931,19438747,19431211,19391484,19383344,19358835,19331801,19267203,19241124,16425263,16424893,16326706,16275157,16237750,16142692,16142392,16103240,16042227,16036783,15944607,15870703,15841325,15797648,15760767,15754326,15691353,15691234,15672858,15628723,15616792,15567754,15557756,15489334,15489233,15351863,15308656,15277439,15248826,15247230,15193960,15147743,15056834,15052627,14983226,14973177,14962256,14744773,14712492,14710472,14702039,14661256,14654538,14605322,14604886,14598888,14517716,12970724,12970394,12900406,12887919,12614934,12602913,12479097,12477932,12475252,12470034,12446683,12439941,12406369,12374789,12372458,12147251,12034400,12032297,11912288,11757622,11606052,11598182,11420387,11049985,11004090,10991943,10764764,10353844,9933646,16491114,16429190,9837731,9736043,9705310,9455735,9422789,8985130,8757599,8112602,7918391,2793861,2554304,2380196,1730286,1480041,1427908,15225209,9182583,1869284,19913121,20485444,20514432,20587546,20616161,20627004,20628086,20634891,20672350,20673868,20694560,20707923,20730428,20138860,17067460,19317417,19464975,19546837,19551542,19551841,19596921,19640333,19698156,19723139,19727008,19758569,19844095,19875168,19883732,19889076,19933216,20041335,20084057,20216978,20452482,20484597,9724659,20598922 1580650,1580161,2290349,2290352,2290394,2290395,2290398,2290436,2290406,1600154,2290397,2290392,2290408,2290360,2290359,2312481,2298521,2312468,2290402,2290407,2290358,2290466,2290468,2290467,1580653,1580169 7077 AC022966,AC100788,CH471099,S68860,U44381,U44385,AK057217,AK294290,AL110197,AL713764,BC010410,BC039613,BC040039,BC040445,BC052605,BC071586,CR596527,NM_003255,CR612157,CR613160,CR616844,CR621263,J05593,M32304,S48568,X54533,FB571110,FB668241 ADQ32873,NP_003246,EAW89538,EAW89539,EAW89540,EAW89541,AAD14025,AAC50729,BAB71383,BAG57573,AAH52605,AAH71586,AAA61186,AAA59581,AAB19474,CAA38400,P16035,Q96MC4,CAR95106,CAS92764 Hs.633514 CSC-21K TIMP-2|metalloproteinase inhibitor 2|tissue inhibitor of metalloproteinase 2|tissue inhibitor of metalloproteinases 2 protein-coding 735741 TIMP3 TIMP metallopeptidase inhibitor 3 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq] 2290409,2290426,2290414,2290418,1600154,2290411,2290421,2290437,2290417,2290413,2312470,2312481,2312482,2290412,2290415,2290416,2290420,2290419,2290424,1600153,1559178,1580863 20606036,20140262,20675565,20801516,20346171,18344519,18383040,15609325,19527514,19431211,19406980,19296468,19148529,19082505,19020732,19019335,18955737,18818748,18638486,18636124,18566294,18516293,18471442,18316197,18291374,18186556,18006877,17901377,17897911,17893005,17676308,17657847,12687014,12654640,12652295,12477932,12388270,12372614,12044879,11988096,11879143,11827969,11827795,11821400,11353449,10854443,10591208,10196161,9642234,9110174,9065415,8981947,8919688,8808469,8806658,8728699,8666262,8663332,8639088,8634721,8619474,8521299,8188246,8174111,8163205,8034652,7925969,7920634,7894485,7795886,7782289,7772252,7588231,7550309,7487894,7148944,3903517,17592394,17488654,17470431,17376651,17209433,17206475,17202148,17130843,17080297,17033924,17030988,16989765,16908447,16858683,16771712,16259644,16225775,16223891,16079149,15944607,15879156,15824229,15714128,15688381,15599946,15592495,15538971,15489334,15468069,15467768,15461802,15387372,15313474,15297175,15225209,15223866,15203191,15123717,14605322,14532978,12969699,12845640,19913121,20417062,20587546,20628086,20628624,20672350,19299578,19438747,19478078,19536307,19543729,19581416,19633828,19643179,19666115,19799609,19834535,19835597,19962668,20385819,20484597,20385826 2290409,2290426,2290414,2290418,1600154,2290411,2290421,2290437,2290417,2290413,2312470,2312481,2312482,2290412,2290415,2290416,2290420,2290419,2290424,1600153,1559178 7078 NM_000362,NG_009117,AF001361,AL023282,CH471095,S79779,U33110,U33114,U38955,Z30183,Z73495,Z73979,Z98256,AF035289,AK098517,AK298126,AK314871,BC013086,BC014277,BT006848,CR456593,CR590317,CR593019,CR593372,CR593651,CR594502,CR594958,CR595883,CR595938,CR596287,CR597142,CR602193,CR603101,CR604843,CR605518,CR607327,CR608290,CR609852,CR609959,CR610281,CR613064,CR613128,CR613233,CR613766,CR615393,CR615534,CR616306,CR617133,CR617989,CR619079,CR620436,CR620838,CR621505,CR623084,CR624342,CR625842,CR625847,CR625951,D45917,L15078,S78453,U02571,U14394,U67195,CR591532,X76227,X80791 NP_000353,AAB68799,CAI17996,EAW60038,AAC50393,AAB17602,CAA82918,CAI20115,BAG60406,BAG37386,AAH14277,AAP35494,CAG30479,BAA08348,AAA21815,AAB34532,AAA17672,AAB60373,AAB07547,CAA53813,P35625,Q14867,Q6LEP5,CAK54624,CAK54923,ABM83507,ABM86724 Hs.714168,Hs.644633 HSMRK222|K222|K222TA2|SFD MIG-5 protein|TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)|TIMP-3|metalloproteinase inhibitor 3|protein MIG-5|tissue inhibitor of metalloproteinase 3|tissue inhibitor of metalloproteinases 3 protein-coding 69155 TIMP4 TIMP metallopeptidase inhibitor 4 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq] 2290439,2290466,2290434,2290436,1302333,1302825,2290471,2290414,2290421,2290437,2290433,2290435,1642040,2290463,2290420,2290455,2290467,2290470,2290461,1580863 8939999,19527514,19376102,19190762,19048177,19036126,19019335,18818748,18336787,18301898,18214300,16940965,16809379,16521002,15816637,15713681,15489334,15273280,14744773,12969699,12477932,12475252,12466243,12374789,12087081,11948685,11178970,10198170,9693046,9182583,19913121,20587546,20628086,19700750,20484597,20140262,20693981 2290439,2290466,2290434,2290436,1302333,1302825,2290471,2290414,2290421,2290437,2290433,2290435,1642040,2290463,2290420,2290455,2290467,2290470,2290461 7079 NM_003256,AC026166,AF057532,CH471055,AK313018,BC010553,BT019627,U76456 NP_003247,AAC34422,EAW64122,BAG35853,AAH10553,AAV38433,AAB40391,Q99727,ABM82721,ABM85904 Hs.591665 TIMP-4|metalloproteinase inhibitor 4|tissue inhibitor of metalloproteinase 4|tissue inhibitor of metalloproteinases 4 protein-coding 1346434 TINAG tubulointerstitial nephritis antigen TINAG is a basement membrane glycoprotein initially identified as a target of antibodies in some forms of immunologically mediated tubulointerstitial nephritis.[supplied by OMIM] 1580863 10581025,20379614,10652240,8770961,1762287,12477932,10752525,9643646,3553704,1466368,17207965,20923822,20157734 27283 NM_014464,AL359380,AL589946,CH471081,AB022277,AF195116,AF195117,AK312918,AW027949,BC056235,BC070278 NP_055279,CAI16272,CAI16273,CAH70301,CAH70302,EAX04437,BAA84949,AAF08931,AAF08932,BAG35763,AAH56235,AAH70278,Q6NSC1,Q7Z477,Q9UJW2,ACE87586,ACE86899,ADQ32005 Hs.127011 TIN-AG tubulointerstitial nephritis antigen protein-coding 1352792 TINAGL1 tubulointerstitial nephritis antigen-like 1 1580863 11170462,10799322,16344560,16303743,16189514,15498874,15489334,15340161,15231748,14702039,12975309,12477932,12358155,16169070 64129 NM_022164,AB050719,AC114488,AF236155,CH471059,CS051201,AB050716,AF205436,AF236150,AF289569,AK027839,AK074124,AK075398,AK292770,AK296322,AK298038,AK298382,AK301070,AY358421,BC009048,BC064633,CR596614,CR601511,DA656570 NP_071447,BAB18727,AAG40154,EAX07603,EAX07604,EAX07605,EAX07606,EAX07607,CAI72096,BAB18636,AAG33699,AAG38876,AAL55753,BAB55403,BAB84950,BAC11596,BAF85459,BAG59016,BAG60337,BAG60618,BAG62677,AAQ88787,AAH09048,AAH64633,Q9GZM7 Hs.199368 ARG1|LCN7|LIECG3|TINAGRP OLRG-2|P3ECSL|TIN Ag-related protein|TIN-Ag-RP|TINAG-like 1|androgen-regulated gene 1|glucocorticoid-inducible protein 5|lipocalin 7|oxidized LDL-responsive gene 2 protein|oxidized-LDL responsive gene 2|tubulointerstitial nephritis antigen-like|tubulointerstitial nephritis antigen-related protein protein-coding 1354058 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 1580863 15383534,10581025,15380063,12768206,15741234,15133513,18443218,16880378,18669893,16166375,19229133,19090550,18252230,16344560,15632001,15489334,15316005,15292264,15231715,15181449,14715659,14702039,12835755,12530079,12477932,11938440,10850490,9373149,8125298,16169070,20404094,20127252,20560964,20979174 26277 CR623530,NM_001099274,AL096870,CH471078,AF195512,AK023166,AK225379,AK294119,AK315084,BC005030,BC019343,BM549897,BX161478,CR590257,CR591539,CR596834,CR598536,CR600876,CR606987,CR613506,CR614984,CR615677,CR617274,CR621443,NM_012461,CR623801,CR626188,DA053760,EU851975,NG_016650 NP_036593,NP_001092744,EAW66048,EAW66049,EAW66050,AAF18439,BAB14440,BAG57452,AAH05030,AAH19343,CAD61933,ACF17559,Q86TZ8,Q9BSI4,ABM84316,ABM87710 Hs.496191 TIN2|TIN2L (TRF1)-interacting nuclear factor 2 variant 1|TERF1-interacting nuclear factor 2|TRF1-interacting nuclear protein 2 protein-coding 1607078 TINP1 TGF beta-inducible nuclear protein 1 17207965,19932687,16861225,15635413,15489334,12477932,12429849,11124703,10486207 10412 NM_014886,AC093214,CH471084,CS300555,AF077615,AF372458,AJ012409,AK313784,AY443419,BC005288,CR600412,CR613056,CR614877,CR620162 ADQ31872,NP_055701,EAW95749,CAK32219,AAG43048,AAK53761,CAA10008,BAG36522,AAS00024,AAH05288,O95478,Q5J7U2 Hs.482526 CDK105|HCL-G1|HCLG1|HUSSY-29|HUSSY29|NSA2|TINP1|YR-29 TGF beta-inducible nuclear protein 1|TGF-beta inducible nuclear protein|TGF-beta-inducible nuclear protein 1|hairy cell leukemia protein 1|ribosome biogenesis protein NSA2 homolog protein-coding 1314636 TIPARP TCDD-inducible poly(ADP-ribose) polymerase 737633,1580863 12477932,11238919,11230166,11076863,15231747,16381901,15489336,15489334,14702039,12851707,20852632,15273990,16202152,16344560,18762178 737633 25976 NM_015508,AC092927,AC106708,CH471052,AK097785,AK291261,AL080156,BC034397,BC050350,BX537965,CR608896,CR749647,DB033700,NM_001184717,NM_001184718 NP_056323,EAW78725,EAW78726,EAW78728,BAF83950,CAB45747,AAH34397,AAH50350,CAD97929,CAH18441,Q05BQ2,Q7Z3E1,CAL38311,EAW78727,NP_001171646,NP_001171647 Hs.12813 DDF1|DKFZp434J214|DKFZp686N0351|DKFZp686P1838|FLJ40466|PARP-1|PARP-7|PARP7|pART14 OTTHUMP00000213216|OTTHUMP00000213217|OTTHUMP00000213218|TCDD-inducible poly [ADP-ribose] polymerase|poly [ADP-ribose] polymerase 7 protein-coding 1606275 TIPIN TIMELESS interacting protein 19615732,20124417,20174623,20233725,17102137,17296725,17141802,17116885,12875843,12477932,11256614,8889548 54962 EU551725,NM_017858,AC055855,CH471082,AK000523,AK299233,BC000870,BK001386,BU596053,BU688750 ACB21044,NP_060328,EAW77762,EAW77763,BAA91229,BAG61265,AAH00870,DAA01365,Q9BVW5 Hs.572318 FLJ20516 TIMELESS-interacting protein protein-coding 1605834 TIPRL TIP41, TOR signaling pathway regulator-like (S. cerevisiae) TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 300141) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM] 17353931,19064610,17384681,12761501,12477932,16085932,19536175 261726 NM_152902,NM_001031800,AL021397,CH471067,AB097034,AI167356,AK313520,AL049670,BC009506,BX431957,CR608456,CR624002 NP_690866,NP_001026970,CAA16171,CAI22473,EAW90820,EAW90821,BAC77387,BAG36300,CAB41244,AAH09506,O75663 Hs.209431 MGC3794|RP1-69E11.1|TIP|TIP41|dJ69E11.3 CG9578-like|TIP41, TOR signalling pathway regulator-like|TIP41-like protein|putative MAPK activating protein|putative MAPK-activating protein PM10|type 2A-interacting protein|yeast YPR037W and worm C02C2.6 predicted proteins-like protein-coding 1322402 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq] 19913121,20577092,20588308,20628086,20797905,12724322,14517278,15004556,16415872,16968706,18292575,19120490,19509286,19543401,19574958,19592497,19602285,19627277,19693265,19948740,20016852,20164415,20188863,20196868,20237496,20525286,20804371,11544529,12721283,15276183,12447442,14625308,16024789,19509334,19505919,19456234,19317913,18987746,18810425,18417424,18369480,18305471,18180278,18070880,17610834,17538633,17322885,17161867,16991088,16751103,16439361,16284379,15489334,15247281,15187145,15123841,14630816,14530355,12565889,12477932,12083783,11526399,11572860,18438411,21118491,21048031 114609 NM_001039661,NM_148910,NG_011523,AP001318,AY282416,CH471065,AB446477,AF378129,AF406652,AF410783,AK124298,AK313147,AY576785,AY576786,AY576787,BC032474 NP_001034750,NP_683708,AAP31973,EAW67687,EAW67688,EAW67689,BAG55254,AAL05627,AAL01160,AAL05036,BAG54027,BAG35965,AAT90417,AAT90418,AAT90419,AAH32474,P58753,Q56UH9,ABM81914,ABM85090 Hs.537126 FLJ42305|Mal|wyatt MyD88 adapter-like protein|OTTHUMP00000179130|Toll-like receptor adaptor protein|adapter protein wyatt|adaptor protein Wyatt|toll/interleukin-1 receptor domain-containing adapter protein 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1318637 TJAP1 tight junction associated protein 1 (peripheral) This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq] 15263016,16344560,15489334,15302935,14702039,14574404,12477932,11602598,9373149,8125298 93643 NM_001146016,NM_001146017,NM_001146018,NM_001146019,NM_001146020,NR_027394,AL355802,AL359813,CH471081,NM_080604,AJ420477,AK024269,AK074241,AK094907,AK123398,AK127338,AK225787,AK307483,AK308866,AK309119,BC046239,BC064401,CR606306,CR749480,DA018836,DA051961,DA098538,DA297698,DA415818,AL117398 NP_542171,NP_001139488,NP_001139489,NP_001139490,NP_001139491,NP_001139492,CAI42617,CAI42618,CAI42619,CAI42620,EAX04192,EAX04193,EAX04196,EAX04197,EAX04198,EAX04199,EAX04200,EAX04201,BAB14867,BAG52952,BAG54486,AAH46239,AAH64401,CAH18308,Q5JTD0,CAI46221,EAX04194,EAX04195 Hs.520145 DKFZp686F06131|PILT|TJP4 OTTHUMP00000016454|OTTHUMP00000016456|OTTHUMP00000224080|protein incorporated later into tight junctions|tight junction protein 4 (peripheral)|tight junction-associated protein 1 protein-coding 1314849 TJP1 tight junction protein 1 (zona occludens 1) This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863,2325135,2325131,2317627,2325141,2325133,2325150,2325136,2325139,2325128,2325127,2325137,2325138,2325030 20562859,20808826,18056766,18029348,17962811,17928286,17760848,17541973,17509776,17259442,17243118,17217619,17118974,17081983,17039425,16909128,16891661,16737969,16637659,16344560,16140936,15855653,15622522,15540229,15500294,15489334,12725331,12708492,12578837,12488461,12477932,12169098,12154091,12152786,12064592,12064590,12023291,11734628,11700038,11590321,11557048,11489913,11292600,11228248,11060040,11042084,11018051,10966866,10862698,10856295,10613913,10601346,10575001,10334923,10026224,9792688,9792678,9707407,9611137,9531559,9214391,9110174,8825647,8619474,8395056,7798316,7682777,7542259,1590354,15977641,18591668,12639940,15331416,8486731,16427635,19332538,19199833,19017653,19017651,18922801,18802961,18649178,18636092,18562690,18474622,18418437,18386163,18162065,15456900,15183511,14628289,12953056,12881224,12865409,12808048,12808044,12742348,18662404,20850437,15054114,16944923,18315903,18823282,19184677,19615732,19639579,19661441,19784548,19885549,19885626,20150971,20200156,20200207,20576493 2325135,2325131,2317627,2325141,2325133,2325150,2325136,2325139,2325128,2325127,2325137,2325138,2325030 7082 NM_175610,NM_003257,AC022613,AF169196,CH471205,DQ015919,AB370197,AF035298,AK302971,AK304758,AK308113,BC036090,BC111712,BX640879,CR749235,DA752892 NP_783297,NP_003248,AAG43399,EAW51506,EAW51507,EAW51508,EAW51509,EAW51510,AAY22179,BAF95000,BAG64116,BAG65513,AAI11713,CAE45936,CAH18091,Q07157,Q68DX9,Q6MZU1,Q9H317,ACE87388,ACE86704 Hs.510833 DKFZp686M05161|MGC133289|ZO-1 OTTHUMP00000174522|tight junction protein ZO-1|zona occludens 1|zona occludens protein 1|zonula occludens 1 protein|zonula occludens protein 1 protein-coding 1349947 TJP1P tight junction protein 1 (zonula occludens 1) pseudogene 64730 733146 TJP2 tight junction protein 2 (zona occludens 2) Tight junction proteins (TJPs) belong to a family of membrane-associated guanylate kinase (MAGUK) homologs that are involved in the organization of epithelial and endothelial intercellular junctions. TJPs bind to the cytoplasmic C termini of junctional transmembrane proteins and link them to the actin cytoskeleton.[supplied by OMIM] 734629,1600163,1580863 20562859,20850437,20868680,20602916,20868367,17353931,18029348,19342771,19148554,18224337,17217619,17081983,16964243,16381901,15592455,15570572,15489336,15489334,15324660,15302935,15164053,15144186,14515355,14512431,12829691,12704386,12645256,12477932,12403786,12152786,12023291,11855865,11598001,11076863,11042084,11018256,10966866,10874042,10613913,10601346,10575001,10495427,10360833,10026224,9458817,7951235,7542259,15977641,16697675,19019082,9792688,15778465,8824195,15054114,15768832,15975580,16344560,19380416,19418635,19538295,19615732,19784548 734629,1600163 9414 NM_004817,NM_201629,AF177518,AF177519,AF177520,AF177521,AF177522,AF177523,AF177524,AF177525,AF177526,AF177527,AF177528,AF177529,AF177530,AF177531,AF177532,AF177533,AL358113,CH471089,AL162730,AA724570,AF083892,AF083893,AF489824,AK025185,AK295016,AK295034,AK302483,AK304447,AK307697,AK308564,BC027592,BC028426,L27476,U84581,AL590238,DB090695,DC325189,NG_016342,NM_001170414,NM_001170415,NM_001170416,NM_001170630 NP_004808,NP_963923,AAD20387,AAC02527,AAD56218,AAD56219,CAH70867,CAH70868,CAH70869,CAH70870,CAM13389,EAW62476,EAW62478,EAW62479,EAW62480,AAC33121,AAC33122,AAM28524,BAH11949,BAH13722,BAH14190,AAH27592,AAA61300,AAB41794,Q5VXL1,Q9UDY2,CAL37567,CAL37590,CAL37681,CAL37845,BAH11954,EAW62477,NP_001163885,NP_001163886,NP_001163887,NP_001164101 Hs.50382 MGC26306|X104|ZO-2|ZO2 Friedreich ataxia region gene X104 (tight junction protein ZO-2)|tight junction protein 2|tight junction protein ZO 2|tight junction protein ZO-2|zona occludens protein 2|zonula occludens protein 2 protein-coding 1319483 TJP3 tight junction protein 3 (zona occludens 3) TJP3 is a member of the family of membrane-associated guanylate kinase-like proteins (MAGUK) that associate with intracellular junctions (Itoh et al., 1999 [PubMed 10601346]).[supplied by OMIM] 1580863 19807924,15057824,14702039,12477932,12021270,11557048,10601346,10575001,9531559 27134 NM_014428,AC005954,AC006125,CH471139,AK027292,AK091118,AK128237,AK304462,BC108906,BC108907 NP_055243,EAW69292,EAW69293,BAB55020,BAG52285,BAG54652,BAG65278,AAI08907,AAI08908,O95049,Q2VPE5,Q96KB4,AAC72274 Hs.25527 MGC119546|ZO-3|ZO3 tight junction protein ZO-3|zona occludens 3|zona occludens protein 3|zonula occludens protein 3 protein-coding 736473 TK1 thymidine kinase 1, soluble 1580863,2317243,2317242,2317237 20372850,20592392,20560637,2026611,3335503,19396699,19123476,19087190,18615770,17407781,17227951,17065087,16969512,16964243,16169070,15978330,15809747,15733844,15611477,15489334,15353126,15153115,14719072,14701726,14697231,14659972,12699056,12477932,12449723,11992400,11474248,11389691,10924519,9575153,8786092,6549046,3785218,3301530,3128713,2538159,2263164,1848304,1370831,19913121,20544518,20544519,20554529,20628086,19957115,20140744,19282758,19654105,20003201,20849417,20354751 2317243,2317242,2317237 7083 NM_003258,AC021593,AC087645,CH471099,M13643,M15205,AA633286,AB451268,AB451395,AK314950,AW183491,BC006484,BC007872,BC007986,BI754079,BT006941,CR590511,CR591037,CR591908,CR592444,CR593153,CR594239,CR596456,CR598176,CR598673,CR599432,CR600464,CR601356,CR603401,CR607869,CR610610,CR611623,CR611771,CR614033,CR615052,CR615808,CR617552,CR620254,CR621570,CR622637,CR624049,CR625563,K02581 NP_003249,EAW89505,EAW89506,EAW89507,EAW89508,AAA61189,AAA61191,AAA61187,P04183,BAG70209,BAG37455,AAH06484,AAH07872,AAH07986,AAP35587,BAG70082 Hs.515122 TK2 thymidine kinase 1|thymidine kinase 1 soluble isoform|thymidine kinase, cytosolic|thymidine kinase-1 protein-coding 1319538 TK2 thymidine kinase 2, mitochondrial The mitochondrial deoxyribonucleotide (dNTP) pool is separated from the cytosolic pool because the mitochondria inner membrane is impermeable to charged molecules. The mitochondrial pool is maintained by either import of cytosolic dNTPs through dedicated transporters or by salvaging deoxynucleosides within the mitochondria; apparently, enzymes of the de novo dNTP synthesis pathway are not present in the mitochondria. In nonreplicating cells, where cytosolic dNTP synthesis is downregulated, mtDNA synthesis depends solely on the mitochondrial salvage pathway enzymes, the deoxyribonucleoside kinases. Two of the 4 human deoxyribonucleoside kinases, deoxyguanosine kinase (DGK) and thymidine kinase-2, are expressed in mitochondria. Human DGK, encoded by the DGUOK gene (MIM 601465), efficiently phosphorylates deoxyguanosine and deoxyadenosine, whereas TK2 phosphorylates deoxythymidine, deoxycytidine, and deoxyuridine. Thymidine kinase-2 (TK2) is a deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine, and also phosphorylates antiviral and anticancer nucleoside analogs.[supplied by OMIM] 1358594,1580863 9079672,19265691,19154348,18508266,18446447,18265975,18021809,17913703,17468435,17065084,16969512,16344560,15639197,15907288,14659972,12873860,12687391,12682338,12493767,12477932,12391347,11687801,9989599,9598140,1597187,605384,20877624,19736010,19878914,20237496 1358594 7084 AC010542,CH471092,AF521891,AK026021,AK026041,AK294627,AK295808,AK302976,AK303590,AK316226,BC029263,BC040667,BC113928,BC134344,BC142970,CR617510,DA500158,U77088,U80628,Y10498,NM_004614,AB472397,NG_016862,NM_001172643,NM_001172644,NM_001172645 NP_004605,EAW83013,EAW83014,EAW83015,EAW83016,EAW83017,AAN73847,BAG57808,BAG58626,BAG64119,BAG64606,BAH14597,AAI34345,AAI42971,AAC51167,AAC51168,CAA71523,O00142,Q6I8R3,Q8IZR3,NP_001166114,NP_001166115,NP_001166116 Hs.512619 MTDPS2|MTTK mt-TK|thymidine kinase 2, mitochondrial protein-coding 1345157 TKCR torticollis, keloids, cryptorchidism and renal dysplasia 6132873 7085 732645 TKT transketolase 724769,1641798,1641814,1580394,1599574,1580863,1300048 20562859,20667822,17353931,9357955,8419340,19110265,18676363,16916647,16289162,15952740,15592455,15489334,15302935,14702039,12665801,12477932,11736629,9611778,9373149,9115179,8969223,8850526,16712791,2495942,1567394,1486804,8125298,20471030,21076409 724769,1641798,1641814,1580394,1599574 7086 CR607604,CR608351,CR609139,CR610315,CR625509,CR626834,DC406010,L12711,U55017,X67688,DB503248,NG_027815,CR604669,NM_001064,AC097015,CH471055,AK057092,AK092084,AK093667,AK223614,AK289454,AK293438,AK301231,AK303191,AK309482,BC002433,BC008615,BC009970,BC024026,BE504944,BQ430230,BX647248,BX649193,CA421169,CB139769,CR594422,CR600295,NM_001135055,CR604907 AAA61222,AAA98961,CAA47919,P29401,Q53EM5,Q6MZE3,ABM84004,ABW03565,NP_001128527,NP_001055,EAW65281,EAW65282,BAG51860,BAG52746,BAD97334,BAF82143,BAG56942,BAG62803,BAG64284,AAH02433,AAH08615,AAH09970,AAH24026,CAE46212 Hs.89643 FLJ34765|TK|TKT1 TK|transketolase protein-coding 1351621 TKTL1 transketolase-like 1 1580863 8838793,19065656,18686341,18615628,18550470,18394773,18302154,18296915,17321041,16969476,16465194,16381901,16344560,15991799,15772651,15489336,15489334,12477932,11256614,11076863,19331662,19419973,19655166,20103683,20884117,20592357,20200485,20596653 8277 NM_012253,NM_001145933,NM_001145934,BX664723,CH471172,U14622,Z49258,AK292224,AK292261,AK301724,AK302044,AK302261,BC025382,BG718121,DA505601,DB524246,X91817 NP_036385,NP_001139405,NP_001139406,EAW72749,EAW72750,EAW72751,EAW72752,EAW72753,AAA21557,CAH69899,CAH69900,CAM13053,CAM13054,BAF84913,BAF84950,BAH13542,BAH13616,BAH13660,AAH25382,CAA62925,P51854,Q5TYJ8,CAL37456,CAL38410,ABM81738,ABM84893 Hs.102866 TKR|TKT2 OTTHUMP00000024307|TK 2|transketolase 2|transketolase-2|transketolase-like protein 1|transketolase-related protein protein-coding 1604771 TKTL2 transketolase-like 2 11256614,16381901,16344560,16189514,15489336,14702039,12477932,11230166,11076863,20800603 84076 AC093788,CH471056,AK057325,AK057537,AK098582,AK314517,AL136779,AL834334,NM_032136,BC028707,BC125101,BC142943,CR533560,DB095901,HC006918 NP_115512,EAX04838,BAB71427,BAB71524,BAG37115,CAB66713,CAD39002,AAH28707,AAI25102,AAI42944,CAG38591,Q8ND81,Q96LZ0,Q9H0I9,CAL37955,AAI43054,AAI43055,AAI46699,CBH19264 Hs.303923 DKFZp434L1717|FLJ32975 transketolase-like protein 2 protein-coding 1602658 TLCD1 TLC domain containing 1 12477932,12151215 116238 NM_138463,NM_001160407,AC010761,CH471159,BC014072,BF478215,BX106421,CA453962 NP_612472,NP_001153879,EAW51133,EAW51134,AAH14072,Q96CP7,ACE87274,ACE86593 Hs.499952 TLC domain-containing protein 1 protein-coding 2292702 TLCD2 TLC domain containing 2 16793762,16625196 727910 AK000038,NM_001164407,AC130343,CH471108 NP_001157879,EAW90587,A6NGC4 Hs.531005 TLC domain-containing protein 2 protein-coding 1319465 TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 1580863 16571670,19101520,20181723,9751710,8687460,8365415,8808280,1303260,19250647,18713067,18611861,18519670,18258796,17680780,17255769,16169070,16166252,15768032,15489334,15187083,15164053,14651967,12477932,12441302,12397081,12391155,12057191,12030375,11748221,11731482,11551980,11238932,10748198,10660609,10209158,9887105,9874198,9854018,9334241,8713081,17353931,16002402,19363472,19809272,19956621,20160071,20379614,17041588,20211142,20844743 7088 NM_005077,AL353682,AL365190,CH471089,AB209854,AK290860,AK293606,AK304565,AY129016,BC000228,BC010100,BC015747,CR612105,M99435 NP_005068,CAI12595,CAI12596,CAI12597,CAI14976,CAI14977,CAI14978,EAW62636,EAW62637,BAD93091,BAF83549,BAG57070,BAG65357,AAM98759,AAH10100,AAH15747,AAA61192,Q04724,Q59EF7,Q5T3G2,Q5T3G3,Q6YL43,ABM84199,ABM87603,ACE87220,ACE86540 Hs.197320,Hs.689805 ESG|ESG1|GRG1 e(Sp1) homolog|enhancer of split groucho 1|enhancer of split groucho-like protein 1|transducin-like enhancer of split 1, homolog of Drosophila E(sp1)|transducin-like enhancer protein 1 protein-coding 4891172 TLE1P1 transducin-like enhancer of split 1 pseudogene 1 645381 NG_022665,Z83841 pseudo 1315408 TLE2 transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 1580863 17041588,8808280,1303260,15489334,15057824,14702039,12477932,11748221,11266540,9887105,9874198,9854018,9334241,8365415,19460168,10825294,19939918 7089 NM_001144761,NM_001144762,NM_003260,AC007766,AC011549,AC093053,CH471139,AK123183,AK293407,AK293482,AK303102,AK308137,AK308608,AK312285,AW262763,BC017364,M99436 NP_001138233,NP_001138234,NP_003251,AAD38075,EAW69348,EAW69349,BAG56914,BAG56973,BAG64211,AAH17364,AAA61193,Q04725 Hs.332173 ESG|ESG2|FLJ41188|GRG2 enhancer of split groucho 2|enhancer of split groucho-like protein 2|transducin-like enhancer of split 2, homolog of Drosophila E(sp1)|transducin-like enhancer protein 2 protein-coding 1351900 TLE3 transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 1580863 17220478,17353931,8808280,1303260,18273443,17081983,16964243,15489334,15302935,14702039,12477932,12441302,12397081,11238932,10997877,10748198,8365415,20181723,17577209,17041588 7090 NM_005078,NM_001105192,NM_020908,AC026583,AC068327,CH471082,AB046767,AB209672,AK000083,AK001258,AK096779,AK298482,AK304459,AK315058,AY583459,AY583460,BC012004,BC015421,BC015729,BC041831,BC043247,CR603419,M99438 NP_005069,NP_001098662,NP_065959,EAW77848,EAW77849,EAW77850,EAW77851,BAB13373,BAD92909,BAG50879,BAG53364,BAG60692,BAG65275,AAS90945,AAS90946,AAH41831,AAH43247,AAA61194,Q04726,Q59EY9,Q6PI57,Q6PRX2,Q6PRX3 Hs.287362 ESG|ESG3|FLJ39460|GRG3|HsT18976|KIAA1547 enhancer of split groucho 3|enhancer of split groucho-like protein 3|transducin-like enhancer of split 3, homolog of Drosophila E(sp1)|transducin-like enhancer protein 3 protein-coding 733230 TLE4 transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 1580863 1303260,18258796,17060451,15302935,15164053,14702039,12477932,12153506,10574462,8365415,10811620,11266540,15105370,16002402,19714205,19893608,20816195,20889853,19332113 7091 AL353813,AL358975,AL445252,CH471089,NM_007005,AB033087,AF068197,AI279314,AI620368,AK057236,AK296342,AK302709,AL162059,BC036369,BC045650,BC059405,BC060038,BC063695,BQ006122,CR615563,CR624203,M99439,W68064 NP_008936,CAI41311,CAI41313,CAI41315,CAI41316,CAI41318,CAC22598,CAC22599,CAI13732,CAI13734,CAI13735,CAI13736,CAI13738,CAI13642,CAI13644,CAI13645,CAI13646,CAI13648,EAW62628,EAW62629,EAW62630,EAW62631,EAW62632,BAA86575,AAC18942,BAG51891,BAG59027,BAG63931,CAB82397,AAH45650,AAH59405,AAA61195,Q04727,Q5JTT6,EAW62627 Hs.444213 BCE-1|BCE1|E(spI)|ESG|ESG4|GRG4 B lymphocyte gene 1|OTTHUMP00000216177|Protein BCE-1|enhancer of split groucho 4|transducin-like enhancer of split 4, e(spl) homolog (drosophila)|transducin-like enhancer of split 4, homolog of Drosophila E(sp1)|transducin-like enhancer protein 4 protein-coding 1343822 TLE6 transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 1580863 18551179,16344560,15489334,14702039,12477932,11486032 79816 NM_024760,AC006277,AC007766,CH471139,AK024071,AK308771,BC007215,BC007329,BC013986,BC020206,BC068052,BX089956,CR590811,CR607853,DA013757,DB059462,NM_001143986 AAD38076,NP_079036,EAW69350,EAW69351,EAW69352,EAW69353,BAB14815,AAH07215,AAH13986,AAH20206,Q6PJM9,Q9H808,Q9Y6S1,NP_001137458 Hs.334507 FLJ14009|GRG6|MGC14966 OTTHUMP00000210615|OTTHUMP00000210846|transducin-like enhancer protein 6 protein-coding 1321237 TLK1 tousled-like kinase 1 The Tousled-like kinases, first described in Arabidopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin assembly.[supplied by OMIM] 1580863 15302935,14732354,14702039,12955071,12477932,12168954,11470414,11314006,8590280,8274451,16189514,12660173,17353931,9427565,10588641,10523312,18838128,17081983,17054786,16344560,16156902,15950181,15489334,20381954,20936779,18029348,20016786 9874 NM_012290,NM_001136554,NM_001136555,AC009953,AC010092,CH471058,AB004885,AF162666,AF246219,AK090779,AK091975,AK292508,AK301857,BC032657,BX537631,D50927,DA144429,DN604386,Z25421,CR624933 NP_036422,NP_001130026,NP_001130027,AAX93162,AAY15077,EAX11220,EAX11221,EAX11222,EAX11223,BAA20562,AAF03094,AAF71263,BAG52227,BAG52453,BAF85197,BAG63299,AAH32657,BAA09486,CAA80908,Q15444,Q53TE4,Q53TF9,Q9UKI8,ABM81830,ABM84983 Hs.726093 KIAA0137|PKU-beta SNARE protein kinase SNAK|serine threonine protein kinase|serine/threonine-protein kinase tousled-like 1 protein-coding 3207461 TLK1P1 tousled-like kinase 1 pseudogene 1 100129793 AL162254,NG_021465 TLK1P|TLK1ps pseudo 1322082 TLK2 tousled-like kinase 2 The Tousled-like kinases, first described in Arabidopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin assembly.[supplied by OMIM] 12660173,17353931,9427565,10523312,15489334,15302935,12477932,11470414,10455159,8889548,16484223,20016786,20056645,20379614 11011 NM_006852,NM_001112707,AC008026,AC080038,CH471109,AA430024,AB004884,AF162667,AI381985,AI621235,AK300586,BC013736,BC044925,BC060511,BM668399,BX647225,CR611549 NP_006843,NP_001106178,EAW94343,EAW94344,EAW94345,EAW94346,EAW94347,EAW94348,EAW94349,BAA20561,AAF03095,BAG62284,AAH44925,Q86UE8 Hs.445078 MGC44450|PKU-ALPHA serine/threonine kinase|serine/threonine-protein kinase tousled-like 2 protein-coding 1625821 TLK2P1 tousled-like kinase 2 pseudogene 1 646202 NG_006102,AC123769 TLK2ps1 pseudo 1625805 TLK2P2 tousled-like kinase 2 pseudogene 2 553121 NG_006100,AL135791 TLK2ps2 pseudo 1314549 TLL1 tolloid-like 1 This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites. [provided by RefSeq] 1580863 16507574,15489334,14702039,12477932,11313359,10896944,10516436,10479448,18824173,8661043,18830233,19723501,20043912,20379614 7092 NM_012464,AC093874,AC097502,AC097507,CH471056,AF282732,AK021908,BC016922,BC136429,BC136430,BC144084,BC144085,U91963,NG_016278 NP_036596,EAX04813,AAF86287,AAH16922,AAI36430,AAI36431,AAI44086,AAB93878,O43897 Hs.106513 ASD6|TLL OTTHUMP00000219733|tolloid-like protein 1 protein-coding 1312462 TLL2 tolloid-like 2 This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq] 1580863 18824173,15489334,15164054,12477932,11313359,11076863,10806368,10516436,10479448,10231032,16344560,16385451,18839057 7093 NM_012465,AL136181,AL138765,AL391136,CH471066,AB023149,AF059516,AK026106,BC013871,BC030548,BC112341,BC112366,BC113577,AW452288,DA716349 NP_036597,CAH72983,CAI13580,CAH72234,EAW49975,EAW49976,BAA76776,AAD42979,AAH13871,AAI12342,AAI12367,AAI13578,Q9Y6L7,AAI11600 Hs.154296 KIAA0932|MGC133312|MGC133313 tolloid-like protein 2 protein-coding 1314756 TLN1 talin 1 This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq] 1580863,2300340 18056416,10320340,18342854,10610730,15070891,15494027,18029348,19148538,18156175,17722883,17597073,17591777,17591693,17430904,16546176,16407302,15983060,15728584,15592455,15581353,15489334,15031296,14581461,12695497,12665801,12606711,12571287,12477932,12422220,12168954,11932255,11382782,11336656,11279249,11113628,10827173,10806106,10581178,10497223,10470851,10393080,9442086,8663236,8635876,7635475,7622520,7534286,2150484,1439807,12119179,8609175,9054445,8641358,20488542,14627618,14630798,15988023,16005629,16581250,19437340,19903453,20160039,6457647,8631894 2300340 7094 NM_006289,AF178534,AL133410,CH471071,AB028950,AF078828,AF113217,AF177198,BC020881,BC042923,CR594557,Z50170 NP_006280,AAF27330,CAI10978,CAI10979,EAW58352,EAW58353,BAA82979,AAD13152,AAG39288,AAF23322,AAH42923,Q5TCU5,Q5TCU6,Q9H3E8,Q9Y490 Hs.471014 ILWEQ|KIAA1027|TLN talin-1 protein-coding 1350417 TLN2 talin 2 This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq] 1580863 10320934,11907066,15494027,19109932,17183545,17081983,16964243,15581353,15302935,12422220,12422219,12168954,11527381,9205841,9110174,8619474,12119179,20379614,20620133 83660 AB304389,AB304390,AB304391,AB304392,AB304393,AB304394,AB304395,AC068233,AC100839,AC103740,AL122065,CH471082,AB002318,AF007154,AF070527,AF085910,AF402000,AK294570,BX647654,BX648144,NM_015059,BX648146 Q9Y4G6,NP_055874,EAW77615,EAW77616,EAW77617,BAA20778,AAM73764,BAG57764 Hs.569438,Hs.610975 DKFZp451B1011|DKFZp686I0976|DKFZp686K0979|ILWEQ|KIAA0320 talin-2 protein-coding 1320607 TLR1 toll-like receptor 1 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq] 1580863,1643119,4889525,2312496,4889528,4889535 11081518,11607792,12077222,9435236,10426995,19627277,19573080,19543401,19505919,19456232,19258923,19254290,19200604,19029192,18810425,18776592,18752252,18684966,18635889,18547625,18474641,18461142,18451040,20497180,20819670,20568250,20800603,20815312,20977567,21048031,21048935,18394314,18292749,18091991,18056480,18006661,17932345,17889651,17703412,17595679,17595233,17548585,17475868,17395901,17314700,17202359,17172927,16971956,16893894,16880211,16848791,16537705,16461792,16455995,16374251,16177110,16081826,16002719,15812078,15793154,15790341,15489334,15340161,14966134,12975352,12600829,12477932,12091878,11932926,11782555,11561001,11230166,11095740,10820283,8838819,7584028,7584026,20554749,20595247,20616560,20617178,20650298,20673868,20797905,20348427,11584270,15728506,16482509,18686608,19423540,19503839,19771452,19773279,19818630,19924287,19931471,20016852,20100933,20207250,20227302,20406964,20438785,20448286,20452482,20453000,20459687,20478407,20503287 1643119,4889525,2312496,4889528,4889535 7096 AC108044,CH471069,AB445617,AK292982,AL050262,AW408740,BC089403,BC109093,BC109094,BU623316,CR533562,D13637,U88540,NM_003263,DQ012254,DQ012255,DQ012256,DQ012257,DQ012258,DQ012259,DQ012260,DQ012261,DQ012262,DQ012263,DQ012264,NG_016228 EAW92901,BAG55014,BAF85671,CAB43364,AAH89403,AAI09094,AAI09095,CAG38593,BAA02801,AAC34137,Q15399,Q32MK4,Q5FWG5,Q6FI64,NP_003254,AAY85633,AAY85634,AAY85635,AAY85636,AAY85637,AAY85638,AAY85639,AAY85640,AAY85641,AAY85642,AAY85643 Hs.621817,Hs.654532 CD281|DKFZp547I0610|DKFZp564I0682|KIAA0012|MGC104956|MGC126311|MGC126312|TIL|TIL. LPRS5|rsc786 OTTHUMP00000218158|OTTHUMP00000218173|OTTHUMP00000218174|OTTHUMP00000218175|OTTHUMP00000218186|toll-like receptor 1|toll/interleukin-1 receptor-like protein protein-coding 1323096 TLR10 toll-like receptor 10 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Its exact function is not known. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863,4889528 15342556,16344560,16482509,17703412,18686608,19247692,19254290,19258923,19332998,19406482,19423540,19505919,19573080,19773279,19924287,20227302,20237496,20406964,20422193,20438785,20444155,20453000,20503287,11267672,15276183,14625308,15728506,16024789,19029192,18810425,18776592,18752252,18547625,18394314,18332149,18091991,17932345,16702361,16537705,15812078,15489334,15201134,12975309,12689944,12477932,11970999,11782555,11561001,9435236,20568250,20800603,20953797,20977567,20595247,20348427,20815312 4889528 81793 BP383038,DA213264,DA312129,DA643313,DB226380,NM_001195106,NM_001195107,NM_001195108,DQ011502,DQ011503,DQ011504,DQ011505,DQ011506,DQ011507,DQ011508,DQ011509,DQ011510,DQ011511,DQ011512,DQ011513,DQ011514,DQ011515,DQ011516,NM_001017388,NM_030956,AC108044,AC118137,CH471069,AB445680,AF296673,AK292026,AK313468,AW504309,AY358300,BC089406,BC109111,BC109112 NP_001182035,NP_001182036,NP_001182037,AAY78477,AAY78478,AAY78479,AAY78480,AAY78481,AAY78482,AAY78483,AAY78484,AAY78485,AAY78486,AAY78487,AAY78488,AAY78489,AAY78490,AAY78491,NP_001017388,NP_112218,EAW92897,EAW92898,EAW92899,EAW92900,BAG55077,AAK26744,BAF84715,AAQ88667,AAH89406,AAI09112,AAI09113,Q9BXR5 Hs.120551 CD290|MGC104967|MGC126398|MGC126399 OTTHUMP00000218160|OTTHUMP00000218161|OTTHUMP00000218162|toll-like receptor 10 protein-coding 1352317 TLR11 toll-like receptor 11 15001781 442887 1343448 TLR12 toll-like receptor 12 14993594,15976025,20210993,14993594 100131451 AL138837,NG_016733 pseudo 1348322 TLR13 toll-like receptor 13 14993594 442889 1353654 TLR2 toll-like receptor 2 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is expressed most abundantly in peripheral blood leukocytes, and mediates host response to Gram-positive bacteria and yeast via stimulation of NF-kappaB. [provided by RefSeq] 1643119,2312687,2312496,2312727,2312683,2312684,2312712,2312491,2312507,2312688,2312681,2312724,2312732,2312575,2312680,1580863,2312679,2312686,2312713,2312723,2312725,4144177,4145342,4145356,4145337,4145339,4145341,4145343,4145352,4145320,4145324,4144228,4145330,4145355,4889539,4145301,4145303,4145304,4145340,4889537,4889533,4144171,4145323,4145321,4145334,4145322,4889534,4145354 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1643119,2312687,2312496,2312727,2312683,2312684,2312712,2312491,2312507,2312688,2312681,2312724,2312732,2312575,2312680,2312679,2312686,2312713,2312723,2312725,4144177,4145342,4145356,4145337,4145339,4145341,4145343,4145352,4145320,4145324,4144228,4145330,4145355,4889539,4145301,4145303,4145304,4145340,4889537,4889533,4144171,4145323,4145321,4145334,4145322,4889534,4145354 7097 NM_003264,AC106865,CH471056,AB445624,AF051152,AF502291,AK125659,AW614989,BC033756,BI769109,U88878,DQ012265,DQ012266,DQ012267,DQ012268,DQ012269,DQ012270,DQ012271,NG_016229 NP_003255,EAX04952,EAX04953,BAG55021,AAC34377,AAM23001,BAG54231,AAH33756,AAC34133,O60603,ABM84931,ABW03649,AAY85644,AAY85645,AAY85646,AAY85647,AAY85648,AAY85649,AAY85650 Hs.519033 CD282|TIL4 toll-like receptor 2|toll/interleukin 1 receptor-like 4|toll/interleukin-1 receptor-like protein 4 protein-coding 1343581 TLR3 toll-like receptor 3 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq] 1580863,1643119 20523058,20514466,20639488,20832341,19758322,21179282,19234180,16111635,12054664,10426995,12133979,16286015,9435236,11607032,12609980,12692549,12855817,15064760,19628747,19527514,19522763,19505919,19494321,19475618,19378782,19362356,19299748,19265130,19258923,19254290,19247444,16858407,16847112,16720699,16628196,16585585,16533755,16484229,16482523,16473828,16424203,16399790,16344560,16293707,16289658,16160153,16146574,16144834,16043704,16035096,16029432,15972671,15961631,15935884,15845391,15778392,15767394,15737993,15731229,15652398,15579900,15502848,15340161,15315972,15226270,15212709,15153468,15119015,15107846,14987294,14982987,14729660,14575692,14557267,14519765,12672806,12646618,12539043,12509442,12477932,11782555,11561001,10820283,17878161,19164128,19134117,19120481,19055649,19035519,19019335,19016379,19001446,18988918,18978302,18949355,18946062,18849495,18832709,18818748,18813073,18810425,18779317,18776592,18775079,18753640,18725521,18715647,18684960,18568036,18566393,18566014,18562533,18544529,18541719,18508883,18442983,18437017,18394314,18385087,18367536,18325643,18262679,18253710,18204787,18172197,18029758,18021446,17982077,17964520,17962701,17962643,17947455,17939877,17908959,17872438,17851256,17805015,17786279,17703412,17660379,17626075,17602875,17573354,17534115,17525119,17521732,17449641,17434873,17314152,17301562,17292969,17254392,17209042,17178723,17150911,17142772,17142768,17085778,17043099,16950283,16935934,16914605,16877304,19231996,20588308,20595247,20604744,20636339,20673868,20309865,20406303,17963596,20009359,10066798,15356140,17128265,18686608,19423540,19437550,19542247,19597128,19625408,19631980,19646728,19656899,19740627,19741468,19748983,19752565,19769802,19779021,19795416,19810822,19833099,19855253,19878930,19887600,19890046,19902255,19914718,19948350,19951172,19966137,19966777,20047764,20100933,20124101,20194452,20197609,20200155,20227302,20237496,20331378,20381870,20406964,20422193,20438785,20452482,20472559,20483009,20483744,20483774,20503287,20367642,20977567,21061265,21079408,20819670,20957750,20651983,18776324 1643119 7098 CS441680,DQ360814,DQ360815,DQ360816,GM869032,U88879,NG_007278,AC104070,CH471056,AB445631,AK302143,AK314208,BC017954,BC043204,BC059372,BC068487,BC094737,BC096333,BC096334,BC096335,BU624267,DA374150,DQ445682,DQ470075,DQ470076,DQ470077,DQ470078,DQ470079,NM_003265 ABC86908,ABC86909,ABC86910,CAL68868,CAT16976,NP_003256,EAX04628,EAX04629,BAG55028,BAH13636,BAG36884,AAH59372,AAH94737,AAH96333,AAH96334,AAH96335,ABE01399,ABF06633,ABF06634,ABF06635,ABF06636,ABF06637,AAC34134,O15455,Q1KMK2,Q504W0,Q6PCD4 Hs.657724 CD283 toll-like receptor 3 protein-coding 737013 TLR4 toll-like receptor 4 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta, and in myelomonocytic subpopulation of the leukocytes. It has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Also, several transcript variants of this gene have been found, but the protein coding potential of most of them is uncertain. [provided by RefSeq] 1580680,1580682,1580733,1580734,1580735,1580736,1580737,1580738,2312487,2312489,2312497,2312677,2312680,2312724,2312725,2312496,2312510,2312683,2312483,2312491,2312492,2312503,2312506,2312507,2312485,2312484,2312493,2312494,2312575,2312732,2312502,1302746,2312573,1624159,1620794,1620681,1620653,1580863,2312574,2312713,2312723,4144176,4144197,4144082,4144104,4144106,4144093,4144105,4144141,4144143,4144145,4144789,4144102,4144122,4144136,4143249,4144819,4144821,4144161,4144167,4144172,4144177,4144192,4144194,4142858,4144149,4144156,4144170,4144183,4144108,4144119,4144070,4144169,4144190,4144193,4144179,4144198,4889534,4144171,4144205,4144817,4144164,4144188,4144229 20125114,20214986,20233331,20504769,20556833,19445369,19436306,19430824,19426173,19422935,19412702,19412184,19407153,19405031,19398177,19395541,19395279,19380025,19376887,19368968,19351596,19336475,19336370,19326213,19321453,19318560,19317913,19306954,19295440,19289835,19280717,19277200,19275590,19267370,19265483,19265114,19264973,19258923,19254290,19247692,19239434,19238444,19218437,19201903,19200604,19195606,19191896,19189651,18978678,18975326,18972554,18950592,18948841,18946062,18945182,18942754,18936436,18930806,18928988,18927069,18925411,18849341,18846558,18845299,18835634,18832719,18826950,18826495,18825409,18818748,18810425,18809506,18806258,18782768,17151549,17143969,17130564,17124436,17121827,17101559,17100974,17100625,17100621,17096074,17086894,17062130,17057796,17056597,17055575,17044867,17038528,17015691,17008589,16990552,16988837,16982657,16973891,16971956,16969132,16961803,16955390,16954131,16950283,16936080,16933467,16907704,16890863,16888192,16879239,16879199,16879054,16878026,16849487,16843693,16840031,16837493,16830219,16829202,16818785,16803995,16802353,16786156,16785528,16779724,16754725,16754684,16738534,16731773,16717116,16714144,16706818,16651628,16629651,16613760,16606645,16603631,16585591,16581829,16567359,16556150,16552356,16525349,16523497,16517732,16508260,16487240,16469362,16461792,16443229,16441767,16439361,16437636,16436969,16397127,16395111,16393227,16388712,16385250,16371473,16357190,16344560,16343635,16338476,16338228,16751411,16740140,16304445,16301860,16290232,16270639,16267105,16266379,16246938,16239841,16239565,16219455,16219107,16215326,16213463,16202743,16157451,16157088,12599057,12594207,12592402,12591474,12588460,12552467,12525572,12495941,12477953,12477932,12444143,12438323,12411706,12406828,12404174,12402214,12397216,12391239,12324481,12324469,12270725,12196527,12193670,12174084,12165534,12124407,12117914,12089142,12055604,12045108,11976338,11964313,11932927,11932926,11923281,11912201,11893689,11877429,11842086,11841848,11836257,11835533,11782555,11751856,11743586,11728442,11706042,11688988,11561001,11544529,11529488,11526399,11514453,11494169,11490012,11477091,11466383,11104518,11081518,10952994,10734131,10524757,10359581,9625770,9237759,18634786,10465784,12646618,20140262,20568250,20587312,20819778,20835611,20865702,20886065,20951669,20977567,21037509,21039068,21042230,21048031,21050493,21054877,21056683,21061265,20736788,16780707,20067961,20187300,20430725,19924287,20360984,20826579,20956019,20964862,20979736,21037101,20525894,20596538,20685742,19252480,11970998,15276183,16514062,11254600,10835634,12133979,15027902,17951129,9435236,10426995,12447442,14556004,14625308,16024789,19638314,19628747,19627277,19614650,19597734,19590686,19586676,19573080,19561617,19554026,19548630,19545686,19543401,19541348,19539691,19531762,19527514,19522765,19505919,19500628,19494325,19494321,19480862,19473079,19453261,19181857,19164128,19159017,19150884,19148938,19148143,19140875,19135114,19134118,19131814,19124725,19120486,19118102,19112167,19109197,19108989,19106585,19096003,19085953,19067670,19067129,19064998,19061090,19060757,19050632,19048480,19046305,19037967,19035519,19035500,19033535,19029192,19017994,19015258,19015224,19012493,19006850,19001446,18996347,18987746,18983635,18773284,18771998,18769358,18763295,18763053,18755634,18728522,18725521,18723631,18714935,18712040,18698233,18690351,18680520,18680223,18670786,18666712,18650783,18650420,18649875,18641349,18634146,18633131,18622290,18622013,18618036,18608206,18596029,18590761,18586872,18565796,18559343,18775079,18031543,18029454,18025155,18008256,18001295,18000954,17999935,17996871,17992634,17992260,17982277,17977838,17967488,17964870,17964520,17962701,17956942,17956467,17947706,17942642,17934216,17928056,17927684,17925445,17921137,17916356,17914947,17909078,17908769,17892476,17878380,17877801,17877764,17872459,17855803,17855767,17854755,17850411,17849054,17827066,17803912,17767165,17724596,17720800,17718424,17713436,17709532,17709420,17707233,17703412,17699831,17681703,17675516,17660297,18549840,18549457,18546014,18544275,18543224,18541719,18523439,18522803,18519568,18517079,18509450,18495130,18493210,18462799,18458086,18452992,18437214,18424732,18422738,18415752,18408113,18403647,18395849,18394314,18385087,18382655,18381796,18368233,18360565,18348860,18345485,18344712,18338763,18326860,18325643,18312481,18307517,18306470,18304834,18299127,18298826,18297073,18295348,18292749,18288881,18286551,18275280,18268386,18252714,18251133,18234474,18234118,18213697,18209571,18209079,18192488,18182917,18180796,18180278,18178854,18174680,18172114,18092352,18089358,18084608,18082569,18070880,18067993,18062835,18062119,18056968,18054497,18044001,18042837,18040078,18034897,18034244,17625598,17652449,17624583,17623651,17600225,17599732,17597463,17595233,17592301,17592300,17588655,17587646,17579031,17579019,17565323,17559631,17556642,17555409,17549384,17545720,17538633,17530716,17529905,17513785,17493663,17482427,17476680,17465679,17462092,17449325,17448042,17431743,17417801,17414051,17404865,17395901,17390084,17389503,17384648,17381401,17381056,17362744,17344072,17333217,17332447,17328955,17324405,17322885,17314700,17314284,17309748,17309585,17304101,17301819,17301562,17301271,17292969,17264400,17258734,17237368,17235555,17229603,17228323,17220311,17206636,17179672,17172927,17157899,17156435,16754682,16146574,16142747,16135957,16107886,16085746,16051275,16044857,16019531,16010583,16006099,16002719,15973118,15972671,15953129,15932772,15927851,15919371,15910856,15910421,15905704,15883205,15882292,15879290,15875057,15866876,15866212,15864121,15863460,15852007,15845500,15843568,15829498,15809303,15796767,15790341,15778388,15770725,15760459,15760452,15752733,15728517,15699327,15696495,15695310,15087412,15081257,15069085,15044215,15041961,15039334,15022344,15016407,15007351,14987294,14764599,14764071,14739370,14738464,14735148,14715415,14709406,14706103,14699155,14699116,14693986,14651524,14638766,14610481,14600154,14597728,14578307,14565959,14563652,14557267,14551607,14519765,14517278,12964127,12960171,12957699,12942028,12941697,12925853,12923493,12897738,12874320,12865424,12855579,12846053,12832426,12810071,12796470,12794153,12782302,12777373,12773319,12773175,12742999,12738639,12734376,12730365,12724322,12717385,12630564,15694388,15691841,15670831,15665723,15661045,15655821,15650037,15647432,15644417,15632890,15623538,15614130,15610077,15591473,15576653,15557191,15547160,15528333,15525557,15520404,15516360,15509550,15489631,15456896,15452251,15385480,15373967,15367917,15358455,15356557,15356101,15351720,15341923,15340161,15337750,15321997,15305230,15302104,15292002,15277575,15273551,15258789,15247281,15225640,15213237,15207785,15194649,15190267,15187145,15175649,15175334,15155619,15148609,15143473,15138173,15132988,15107846,12622779,17045043,18785522,19710105,19913121,20299682,20485444,20575099,20577092,20587548,20595247,20598754,20604744,20620409,20626741,20628086,20646321,20646366,20646633,20673868,20692469,20711192,20711470,20714796,20721625,20730440,20797905,20807077,20818954,20818961,20063104,19513622,20802145,20862798,17524268,20105294,20357250,20400509,20412715,16463649,20497256,11441107,15356140,16266460,16836908,17389921,17456342,18686608,19215923,19390489,19423540,19445990,19447045,19455302,19493410,19496069,19502387,19509286,19528164,19528814,19542021,19546479,19556306,19556696,19564644,19564704,19566553,19572373,19575238,19578796,19584052,19592497,19596916,19622038,19631641,19643479,19646345,19646728,19656901,19660727,19664207,19692168,19706440,19723394,19729601,19730000,19735472,19737468,19740627,19741468,19750015,19758312,19760027,19763595,19764566,19769961,19771452,19772581,19773279,19773677,19779605,19796532,19796535,19796680,19809335,19809507,19810822,19811440,19816595,19824106,19826413,19839752,19840833,19841637,19844258,19844589,19846529,19846881,19847953,19855253,19858308,19888805,19891659,19892918,19902255,19912257,19913922,19915052,19922963,19928913,19929430,19948740,19948975,19953283,19956541,19956717,19960069,20001205,20002809,20007708,20007974,20011079,20011698,20016852,20018893,20026833,20026892,20037584,20039305,20047764,20056178,20059631,20067962,20078877,20079790,20083228,20085599,20092898,20093834,20098705,20109750,20120936,20124101,20145615,20146922,20164024,20169003,20170964,20177675,20179247,20194452,20197549,20200442,20201793,20207250,20212095,20222908,20226000,20227302,20228668,20228685,20237496,20237756,20306049,20307689,20308035,20331879,20332463,20348497,20351099,20357716,20363151,20375613,20381257,20384861,20388081,20399512,20400193,20402671,20403143,20406964,20438785,20441696,20448286,20452482,20463618,20483368,20492496,20496780,20503287,20504212,20505764,20518842,20521908,20525286,17083795,20510162,20614721,20596954,20616112,20618976,20634913,20702616,20660289,20717938,20819643,20819670,19754671,20472010,20933442,20974832 1580680,1580682,1580733,1580734,1580735,1580736,1580737,1580738,2312487,2312489,2312497,2312677,2312680,2312724,2312725,2312496,2312510,2312683,2312483,2312491,2312492,2312503,2312506,2312507,2312485,2312484,2312493,2312494,2312575,2312732,2312502,1302746,2312573,1624159,1620794,1620681,1620653,2312574,2312713,2312723,4144176,4144197,4144082,4144104,4144106,4144093,4144105,4144141,4144143,4144145,4144789,4144102,4144122,4144136,4143249,4144819,4144821,4144161,4144167,4144172,4144177,4144192,4144194,4142858,4144149,4144156,4144170,4144183,4144108,4144119,4144070,4144169,4144190,4144193,4144198,4889534,4144171,4144205,4144817,4144164,4144188,4144229 7099 DQ018108,DQ018109,FB700885,NR_024168,NM_138554,NR_024169,NG_011475,AF172171,AF177765,AF177766,AL160272,CH471090,AA598398,AB445638,AK226155,AK290053,AK293068,AK303730,AL710219,BC025294,BC117422,BC143841,DA126770,U69193,U88880,U93091 AAY82268,AAY82269,CAS02255,NP_612564,AAF89753,AAF05316,AAF07823,CAH72618,CAH72619,EAW87451,BAG55035,BAF82742,BAF85757,BAG64706,AAI17423,AAC34135,AAC80227,O00206 Hs.174312 ARMD10|CD284|TOLL|hToll homolog of Drosophila toll|toll-like receptor 4 protein-coding 1348706 TLR5 toll-like receptor 5 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene product is expressed in myelomonocytic cells, and recognizes bacterial flagellin, a principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB and stimulates tumour necrosis factor-alpha production. [provided by RefSeq] 1643119,1580863 12925853,19638314,19620771,19616328,19543401,19505919,19473567,19447460,19258923,19179655,19150884,19134113,19120490,19067129,18810425,18809506,18776592,18684966,18680520,18590761,18538140,18490781,18394314,18325643,18314303,18213697,18167552,17703412,17587322,17516623,17442957,17283206,16971956,16897777,16670329,16644730,16482509,16470719,16439468,16339542,16284379,16239509,16179598,16044857,16027372,15956202,15747241,15731050,15685542,15489334,15340161,15302888,15135456,15107846,15069060,15067088,14707135,14623910,14607814,12933896,12794153,12734364,12702497,12600829,12477932,12185085,11953430,11782555,11561001,11323673,10820283,10426995,9596645,9435236,14625308,15276183,16024789,17128265,18686608,19786303,19912257,19950169,20016852,20056178,20083854,20100933,20130217,20164175,20194452,20227302,20379614,20452482,20463618,20483744,20503287,20452988,20656790,20855887,19758322,20977567,21068401,19913121,20595247,20604744,20626741,20628086,20673868,20677014 1643119 7100 NM_003268,AL359979,AL929091,CH471100,AB060695,AB445645,AF051151,AI628024,BC109118,BC109119,DB448079,U88881,BQ025528,NG_016244,FJ556980,FJ556987 NP_003259,CAM28378,CAM28379,EAW93262,EAW93263,BAB43955,BAG55042,AAC34376,AAI09119,AAI09120,AAC34136,O60602,Q32MI2,ACM69023,ACM69030 Hs.604542,Hs.726512 FLJ10052|MGC126430|MGC126431|SLEB1|TIL3 OTTHUMP00000036039|OTTHUMP00000036040|toll-like receptor 5|toll/interleukin-1 receptor-like protein 3 protein-coding 1344850 TLR6 toll-like receptor 6 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. [provided by RefSeq] 1643119,1580863,4889532,4889539,4889537,4889528,4889533,4145352,4889538,4889534,4889535 19029192,18810425,18776592,18752252,18547625,18451040,18424724,18394314,18325643,18159247,18091991,18056480,17934735,17932345,17827388,17703412,17651447,17595233,16880211,16648973,16537705,16482509,16461792,16374251,16188043,16177110,16081826,15812078,15661917,15266299,14966134,14706104,12724322,12477932,11970999,11782555,11607792,11561001,11441107,11123271,11095740,11081518,9435236,20713893,20815312,11431423,11686851,10231569,10426995,12077222,14625308,16024789,19573080,19543401,19505919,19378782,19258923,19254290,19247692,19200604,19172872,20554749,20595247,20616560,20673868,20797905,15276183,16344560,18686608,19423540,19458089,19543380,19771452,19773279,19931471,20037584,20056792,20100933,20200442,20207250,20224557,20227302,20237496,20402822,20406964,20438785,20445564,20448286,20452482,20453000,20503287,20348427,20568250,20800603,21048031 1643119,4889532,4889539,4889537,4889528,4889533,4145352,4889538,4889534,4889535 10333 NG_028087,NM_006068,AC108044,CH471069,AB020807,AB445652,AK313618,BC111755,BF512068,DA619469,EU170528,EU170529,EU170531,EU170532,EU170533,EU170534,EU170536,EU195541,EU195542,EU195543,EU195544,EU195545,EU195546,EU195547,EU195548,EU195550,EU195551,EU195553,EU195554,EU195555,EU195557 NP_006059,EAW92902,BAA78631,BAG55049,BAG36380,AAI11756,Q2NKL3,Q9Y2C9,ABW37063,ABW37064,ABW37066,ABW37067,ABW37068,ABW37069,ABW37071,ABY67117,ABY67118,ABY67119,ABY67120,ABY67121,ABY67122,ABY67123,ABY67124,ABY67126,ABY67127,ABY67129,ABY67130,ABY67131,ABY67133 Hs.726667,Hs.575090 CD286 OTTHUMP00000158730|OTTHUMP00000218187|OTTHUMP00000218188|toll-like receptor 6 protein-coding 1353456 TLR7 toll-like receptor 7 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq] 1643119,1580863 16111635,15276183,16188996,16286015,14625308,16024789,19614650,19564354,19527514,19505919,19473567,17512627,17371961,17301562,17075576,17040905,17023556,16973388,16935934,16887967,16623926,16517754,16482509,16446426,16230478,16116638,16025564,15778362,15695821,15489334,12975309,12477932,12045249,12032557,11970999,11909637,11782555,11022120,11022119,9435236,17608805,20309865,18686608,19381167,19406482,19553637,19740627,19794067,19821521,19841637,19887600,19915052,19948975,19954299,20007807,20026744,20042593,20100933,20124101,20190752,20194452,20227302,20237413,20237496,20410486,20412752,20503287,20525845,20559388,20592251,20819670,19924287,20390327,20977567,21061265,19454678,17609264,19265114,19258923,19164127,19129482,19120473,19114863,19019335,18995892,18949362,18818748,18810425,18806803,18682521,18596825,18535206,18474259,18431484,18406377,18394314,18385087,18250417,18215354,18088248,18021446,17964520,17956986,17907191,17703412,17698957,19452306,20832340,20399690,20872712,19913121,20588308,20595247,20605567,20628086,20733074,18438411,21037581 1643119 51284 NM_016562,NG_012569,AC005859,CH471074,AB445659,AF245702,AK313858,AY358292,BC033651,AF240467,DQ022180,DQ022181,DQ022182,DQ022183 NP_057646,EAW98807,BAG55056,AAF60188,AAF78035,BAG36586,AAQ88659,AAH33651,Q9NYK1,ABM82195,ABM85383,AAZ99021,AAZ99022,AAZ99023,AAZ99024 Hs.659215 toll-like receptor 7 protein-coding 1605396 TLR8 toll-like receptor 8 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq] 1643119 17090647,14976262,15276183,16188996,16286015,14625308,16024789,19614650,19527514,19505919,19454678,19265114,19258923,19164128,19164127,19028959,19019335,19017992,18985539,18985439,18942751,18927625,18818748,18810425,18682521,18605904,18431484,18406377,17964520,17932028,17868034,17724596,17703412,17698957,17301562,16123302,12032557,16111635,17040905,17023556,16935934,16857668,16737960,16482509,16303743,16025564,16008579,15489334,12975309,12724322,12477932,11909637,11782555,11607792,11022120,11022119,9435236,19913121,20588308,20595247,20628086,20364151,20399690,20832340,20652908,20829351,20977567,21061265,18686608,19381167,19406482,19437550,19527497,19637197,19841637,19850743,19915052,20004021,20100933,20124101,20190752,20194452,20227302,20237413,20237496,20412752,20503287,18438411 1643119 51311 NM_138636,AC005859,AC139705,CH471074,AB445666,AF245703,AF246971,AK075117,AK314240,AY358296,BC101074,BC101075,BC101076,BC101077,CR596887,NG_012882 NP_619542,EAW98808,EAW98809,BAG55063,AAF78036,AAF64061,BAC11412,AAQ88663,AAI01075,AAI01076,AAI01077,AAI01078,Q495P6,Q495P7,Q8NC00,Q9NR97 Hs.660543 CD288|MGC119599|MGC119600 toll-like receptor 8 protein-coding 1346715 TLR9 toll-like receptor 9 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq] 1643119,2312677,2301099,1580863,2312679 20181802,15723075,15276183,11130078,16286015,14625308,14751759,15207506,16024789,19627277,19564354,19539691,19527514,19505919,19459480,19390575,19367581,19362685,19337058,19317913,19299739,19297619,19289178,19284650,19275920,19264973,19258923,19254290,19247692,19211891,19201477,19130296,19129482,19120473,19096003,19079358,19050243,19034349,19033535,19019335,18946062,18922969,18832675,18818748,18810425,18806803,18776592,18776126,18769358,18763053,18633634,18606688,18568766,18539711,18535206,18524824,18437017,18406377,18394314,18332208,18318750,18312481,18275280,18262306,18253698,18215354,18208876,18160420,18092352,18036648,17986857,17984204,17964520,17932028,17914947,17894360,17893430,17878374,17854755,17854429,17768129,17703412,17636117,17573724,17534115,17516623,17482427,17473064,17469139,17440926,17373717,17344245,17328813,17325049,17301562,17295441,17292969,17258734,17229603,17145922,17142771,17075805,12573264,12560217,12477932,11976718,11970999,11909637,11867692,11782555,11564765,11561001,11022120,11022119,9435236,17040905,17000223,16990271,16971956,16951309,16920494,16864658,16849519,16847112,16779724,16731773,16608528,16575840,16437636,16428738,16424230,16394009,16371473,16237063,16230478,16164440,16125159,16024265,16002719,15878652,15860583,15790341,15730519,15631627,15607737,15585868,15489334,15307186,15294971,15153500,15107846,14987294,14716310,14694183,12975309,12941697,12867418,12778475,12734363,12724322,12689944,12600829,12925853,17474147,19513613,20375564,20375566,19913121,20588308,20595247,20604744,20622911,20628086,20646321,20646633,20659127,20673868,20674764,20797905,20399690,20980519,20977567,21048031,21050493,20514021,20635795,20592251,20811701,20819670,19924287,20713890,12660731,15356140,17128265,18686608,19319670,19401392,19406482,19423540,19578108,19601804,19618291,19620253,19639721,19714766,19723394,19724876,19740627,19745833,19771452,19789190,19794067,19796535,19809335,19810822,19844589,19854217,19855253,19903791,19906293,19914718,19948975,19953283,20026892,20038537,20041977,20044998,20054821,20085599,20100933,20130217,20132814,20137629,20194452,20197609,20207250,20227302,20227772,20237496,20307689,20331378,20348497,20363151,20406964,20422193,20438785,20452482,20497632,20500814,20503287,20559388,21057083,21059889 1643119,2312677,2301099,2312679 54106 NM_017442,AC097637,CH471055,EU170540,EU170541,EU170542,EU170543,AB045180,AB445673,AF245704,AF246972,AF259262,AF259263,AY359085,BC032713,DQ019992,DQ019993,DQ019994,DQ019995,DQ019996,DQ019999 NP_059138,EAW65191,EAW65193,ABW37075,ABW37076,ABW37077,ABW37078,BAB19259,BAG55070,AAF78037,AAG01734,AAF72189,AAF72190,AAQ89443,AAH32713,Q9NR96,ACE87339,ACE86657,AAZ95513,AAZ95514,AAZ95515,AAZ95516,AAZ95517,AAZ95520 Hs.87968 CD289 toll-like receptor 9 protein-coding 1351719 TLX1 T-cell leukemia homeobox 1 1599439,1580863 19250647,18368072,18283632,18245528,18187418,18073142,17713543,17609427,17213805,16862188,16407851,16357834,15897879,15384172,14504110,12477932,12180349,12054735,11342305,10393251,10327073,9778044,9009195,8099440,7555717,1973146,1717256,1681546,1676542,1352396,20972433,17303350,19862821,20618946,19559479 1599439 3195 NM_005521,AF067443,AJ009794,AL357395,CH471066,BC130530,BF514683,M62626,M75952,S38742,NG_027826,NM_001195517 NP_005512,AAG10096,CAA08834,CAH72448,EAW49778,AAI30531,AAA36719,AAA58662,AAB19293,P31314,NP_001182446 Hs.89583 HOX11|MGC163402|TCL3 Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)|T-cell leukemia homeobox protein 1|T-cell leukemia, homeobox 1|T-cell leukemia/lymphoma protein 3|homeo box 11 (T-cell lymphoma 3-associated breakpoint)|homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)|homeobox protein Hox-11|proto-oncogene TCL-3|t-cell leukemia, homeobox 1 protein-coding 3322054 TLX1NB TLX1 neighbor 12477932,15164054,15489334,17303350 100038246 AL133215,AL357395,BC019674,BI770592,CH471066,NM_001085398,Y11608 EAW49779,NP_001078867,P0CAT3 Hs.662323 APT-B7|TD1|TDI Putative protein TDI|TLX1 divergent gene protein|putative TLX1 neighbor protein|putative protein TDI protein-coding 1320082 TLX2 T-cell leukemia homeobox 2 1580863 19719399,16969514,16402914,16291166,15489334,12477932,10446220,10343123,9738002,20044949,8889548 3196 AB008502,NM_016170,AC005041,AJ002607,AJ002609,CH471053,AB008501,BC006356,BC006396,BC018611,BU740503 NP_057254,CAA05636,EAW99630,BAA83463,AAH06356,O43763,ABZ92008 Hs.168586 Enx|HOX11L1|NCX T-cell leukemia homeobox protein 2|homeo box 11-like 1|homeobox protein Hox-11L1|neural crest homeobox protein|t-cell leukemia, homeobox 2 protein-coding 1353737 TLX3 T-cell leukemia homeobox 3 RNX (HOX11L2, TLX3) belongs to a family of orphan homeobox genes that encode DNA-binding nuclear transcription factors. Members of the HOX11 gene family are characterized by a threonine-47 replacing cytosine in the highly conserved homeodomain (Dear et al., 1993 [PubMed 8099440]).[supplied by OMIM] 1580863 12970786,12477932,12454747,12407709,12130513,11587205,11435718,11435716,8099440,18368072,18185524,17308084,16966433,15990867,15674415,15489334,15334547,15240857,14504110,15466398 30012 NM_021025,AC091980,AJ223798,CH471062,BC017291 NP_066305,CAA11550,EAW61452,AAH17291,O43711,ABM83580,ABM86819,ABM87084 Hs.249125 HOX11L2|MGC29804|RNX T-cell leukemia homeobox protein 3|T-cell leukemia, homeobox 3|homeo box 11-like 2|homeobox protein Hox-11L2|t-cell leukemia, homeobox 3 protein-coding 1602315 TM2D1 TM2 domain containing 1 The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. [provided by RefSeq] 17207965,12477932,15126508,12836168,12553667,11278849 83941 NM_032027,AC099791,CH471059,AF353990,AK311444,AK311705,BC029486,BC048995 ADQ31640,NP_114416,EAX06597,EAX06598,EAX06599,AAK35064,AAH29486,Q9BX74 Hs.656790 BBP OTTHUMP00000010139|OTTHUMP00000010227|TM2 domain-containing protein 1|beta-amyloid-binding protein|hBBP protein-coding 1602456 TM2D2 TM2 domain containing 2 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq] 16303743,12477932,11278849,9373149,8125298 83877 NM_031940,NM_078473,NM_001024380,NM_001024381,AC108863,CH471080,CQ783012,CQ783226,AF353991,AK075027,AK075155,BC109049,BC109050,BG424960,CR598562,CR608326,CR612275,CR617736,CR623886,AK225093,AK314703,AL834224,BC004878 NP_114146,NP_510882,NP_001019551,NP_001019552,EAW63286,EAW63287,EAW63288,EAW63289,CAF86219,CAF86421,AAK35065,BAC11359,AAI09050,AAI09051,Q9BX73,BAC11437,BAG37251,CAH10695,AAH04878 Hs.7471 BLP1|MGC125813|MGC125814 BBP-like protein 1|TM2 domain containing 2, isoform a|TM2 domain-containing protein 2|beta-amyloid-binding protein-like protein 1 protein-coding 1602099 TM2D3 TM2 domain containing 3 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq] 16642435,14702039,12477932,11278849 80213 NM_078474,AC090164,CH471101,AF353992,AK026257,AK094955,AK297048,AK315584,AL512689,BC006150,BC008873,BQ272585,CR591311,CR592279,CR597856,CR601791,CR605151,CR609942,NM_025141,CR615415,CR619206,AK296553 NP_079417,NP_510883,EAX02313,EAX02314,EAX02315,AAK35066,BAB15415,BAG52963,BAG59574,BAG37956,CAC21647,AAH06150,AAH08873,Q9BRN9,BAG59176 Hs.288912 BLP2 BBP-like protein 2|TM2 domain-containing protein 3|beta-amyloid-binding protein-like protein 2 protein-coding 1320105 TM4SF1 transmembrane 4 L six family member 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq] 1580863 7510285,19401544,18270265,16169070,15812828,15489334,14702039,12855661,12477932,11774983,11739647,11426942,11102519,8168850,7829101,1565644 4071 NM_014220,AC073522,AC108751,CH471052,AK093829,AK130073,AK130271,AL832780,BC008442,BC010166,BC034145,BG142206,BI494959,CR456953,CR617959,M90657,X75684 NP_055035,EAW78874,EAW78875,EAW78876,AAH08442,AAH10166,AAH34145,CAG33234,AAA36158,P30408,Q8NE91 Hs.351316 H-L6|L6|M3S1|TAAL6 membrane component chromosome 3 surface marker 1|membrane component, chromosome 3, surface marker 1|transmembrane 4 L6 family member 1|transmembrane 4 superfamily member 1|tumor-associated antigen L6 protein-coding 1605011 TM4SF18 transmembrane 4 L six family member 18 14702039,17207965,15489334,12477932,10975581,16344560 116441 AK092282,NM_138786,AC093001,CH471052,AK313400,AL833134,BC014339,BF213446,CA454331,DB282139,NM_001184723 ADQ33182,NP_620141,EAW78877,EAW78878,EAW78879,BAG36197,AAH14339,Q96CE8,NP_001171652 Hs.22026 L6D OTTHUMP00000215875|OTTHUMP00000215876|transmembrane 4 L6 family member 18 protein-coding 1605592 TM4SF19 transmembrane 4 L six family member 19 16344560,15489334,12477932 116211 NM_138461,AC069257,CH471191,AF192910,AK310209,BC146985,BC146993,BC147021,BC171824,BC171870,BP395549,BQ678650,DB015357 NP_612470,EAW53661,AAQ13824,AAI46986,AAI46994,AAI47022,AAI71870,Q96DZ7 Hs.710321 OCTM4 OTTHUMP00000208459|OTTHUMP00000208460|OTTHUMP00000208461|osteoclast maturation-associated gene 4 protein|tetraspan membrane protein OCTM4|transmembrane 4 L6 family member 19 protein-coding 1605628 TM4SF20 transmembrane 4 L six family member 20 16344560,15815621,15489334,14702039,12975309,12477932,20479760 79853 NM_024795,AC097662,CH471063,AK026453,AY358671,BC035754,BC137256,BC137257,DA926038 NP_079071,AAY24253,EAW70870,BAB15488,AAQ89034,AAH35754,AAI37257,AAI37258,Q53R12 Hs.156652 FLJ22800|PRO994|TCCE518 transmembrane 4 L6 family member 20 protein-coding 731779 TM4SF4 transmembrane 4 L six family member 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1580863 7665614,18765015,15489334,14702039,12477932,11739647,10975581,9737661 7104 NM_004617,AC108751,CH471052,CS223383,AK055577,AK315464,BC001386,BT007430,CR624110,U31449,HH935298,HI939028,HI939141,HI939254,HI987324,HI988479,HI988592 NP_004608,EAW78870,EAW78871,CAJ46931,BAG51538,BAG37851,AAH01386,AAP36098,AAA74745,P48230,CBX36869,CBY79741,CBY79760,CBY79779,CBY88735,CBY88763,CBY88782 Hs.133527 FLJ31015|ILTMP|il-TMP intestinal and liver (il) tetraspan membrane protein|intestine and liver tetraspan membrane protein|transmembrane 4 L6 family member 4|transmembrane 4 superfamily member 4 protein-coding 1318639 TM4SF5 transmembrane 4 L six family member 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq] 1580863 20399237,17207965,9479038,19036703,18357344,16828471,15489334,12477932,11774983,11739647,10975581,8895530,19789264 9032 NM_003963,AC091153,AC109333,AC233723,CH471108,AF027204,BC069519,BC093688,BC117163,CR456925,CR541798 ADQ32915,NP_003954,EAW90412,EAW90413,AAB82947,AAH69519,AAH93688,AAI17164,CAG33206,CAG46597,O14894,Q6FHF6 Hs.184194 tetraspan transmembrane protein L6H|transmembrane 4 L6 family member 5|transmembrane 4 superfamily member 5 protein-coding 1317482 TM6SF1 transmembrane 6 superfamily member 1 1580863 12477932,11124529,9373149,8125298 53346 NM_023003,NM_001144903,AC024270,CH471188,CQ834420,CS072467,AF255922,AK223246,AK292100,AK295568,BC032007,BC063487,DQ021909 NP_075379,NP_001138375,EAW62428,CAH05425,CAI93605,AAG59699,BAD96966,BAF84789,BAG58468,AAH32007,AAH63487,AAY44754,Q4U0U5,Q53FN6,Q6P4D7,Q8N5N8,Q9BZW5 Hs.513094 transmembrane 6 superfamily member 1 protein-coding 1318158 TM6SF2 transmembrane 6 superfamily member 2 1580863 16344560,15057824,14702039,12477932,11572484,11124529 53345 NM_001001524,AC003967,AC138430,CH471106,AF255923,AK024515,AK026307,AK097070,BC120986,BC120987,DA930032 NP_001001524,EAW84806,EAW84807,AAG59700,BAC04941,AAI20987,AAI20988,Q8N8A7,Q9BZW4,AAI60089 Hs.531624 KIAA1926 transmembrane 6 superfamily member 2 protein-coding 1322541 TM7SF2 transmembrane 7 superfamily member 2 1580863 16784888,9878250,18660489,15489334,12477932,11937680,11784322,9615229,9286704,19940018,20138239 7108 NM_003273,AF048704,AF096303,AP003068,CH471076,AF023676,AF096304,AK290935,AK296441,BC009052,BC012857,BC038353,BG771219,CR590553,CR591372,CR594174,CR595034,CR600165,CR604066,CR610989,CR612163,CR613021,CR620950,CR622162 NP_003264,AAC21457,AAD09769,EAW74348,EAW74349,EAW74350,EAW74351,AAC21450,AAD09765,BAF83624,BAG59094,AAH09052,AAH12857,AAH38353,O76062 Hs.31130 ANG1|DHCR14A|NET47 C-14 sterol reductase|another new gene 1 protein|delta(14)-sterol reductase|delta-14-SR|putative sterol reductase SR-1|sterol C14-reductase protein-coding 1315548 TM7SF3 transmembrane 7 superfamily member 3 1580863 20734064,16344560,15489334,14702039,12477932,10828615 51768 NM_016551,AC024896,CH471094,AB032470,AK002031,AK023085,BC005176,CR614967,DA719107 NP_057635,EAW96542,BAA92856,BAA92046,BAG51155,AAH05176,Q9NS93 Hs.438641 seven span transmembrane protein|seven transmembrane protein TM7SF3|transmembrane 7 superfamily member 3 protein-coding 1321334 TM7SF4 transmembrane 7 superfamily member 4 Dendritic cells are unique in their ability to present antigen to naive T cells, and therefore play a central role in the initiation of immune responses. The protein encoded by this gene is a transmembrane molecule that is preferentially expressed by dendritic cells. Its expression is down-regulated by ligation of the CD40 molecule. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 11169400,19259350,15601667,15489334,14702039,12477932,11345591,11345586,20546900,20797317 81501 NM_030788,AP003471,CH471060,AF277290,AF305068,AK095417,BC069349,BC112018,BC112020 NP_110415,EAW91892,AAL02152,AAG39167,BAG53050,AAH69349,AAI12019,AAI12021,Q9H295 Hs.652230 DCSTAMP|FIND|MGC138223|MGC138225 DC-specific transmembrane protein|Dendritic cells (DC)-specific transmembrane protein|IL-4-induced protein|IL-Four (IL-4) induced|IL-Four INDuced|dendritic cell-specific transmembrane protein|transmembrane 7 superfamily member 4 protein-coding 1316066 TM9SF1 transmembrane 9 superfamily member 1 1580863 9332367,15489334,12477932,11595169,19029833 10548 CR614007,CR614922,CR618221,CR621520,U94831,NM_001014842,AL136295,CH471078,AA663295,AK292110,BC010856,BM922952,BX161390,BX161494,CR604869,CR606704,NM_006405,AK304642 AAC51782,O15321,Q86SZ6,NP_006396,NP_001014842,EAW66073,EAW66074,EAW66075,EAW66076,EAW66077,BAF84799,AAH10856,CAD61879,CAD61941,BAG65421 Hs.91586 HMP70|MP70 MP70 protein family member|multispanning membrane protein (70kD)|transmembrane 9 superfamily member 1|transmembrane protein 9 superfamily member 1 protein-coding 1343017 TM9SF2 transmembrane 9 superfamily member 2 1580863,2317244 9729438,15489334,15231748,15057823,14702039,12477932,9373149,9230071,8125298,20379614 2317244 9375 NM_004800,AL139035,CH471085,CQ834842,AK093507,AK129798,AK225800,AK290514,AK315210,BC110656,BC130293,CR605342,L13803,U81006 NP_004791,CAH71381,EAX09023,CAH05636,BAG52731,BAF83203,AAI10657,AAI30294,AAB38973,Q99805 Hs.654824 FLJ26287|MGC117391|P76 76 kDa membrane protein|transmembrane 9 superfamily member 2|transmembrane protein 9 superfamily member 2 protein-coding 1604607 TM9SF3 transmembrane 9 superfamily member 3 11595169,16303743,14702039,12975309,12477932,16385451 56889 BC020959,AL138765,CH471066,AF116347,AF160213,AF269150,AK000756,AK027438,AK027788,AK074824,AK075093,AK075451,AK297721,AK314348,AY358819,NM_020123,BC136788,BC136789,BC144412 NP_064508,CAI13583,CAI13584,EAW49972,EAW49973,EAW49974,AAF21983,AAF67014,AAF98159,BAA91362,BAB55110,BAB55369,BAC11232,BAC11397,BAG60075,AAQ89178,AAH20959,AAI36789,AAI36790,Q5TB53,Q8NCC4,Q8WUB5,Q96JZ5,Q96K55,Q9HD45 Hs.500674 EP70-P-iso|RP11-34E5.1|SMBP SM-11044 binding protein|SM-11044-binding protein|endomembrane protein emp70 precursor isolog|transmembrane 9 superfamily member 3 protein-coding 1317150 TM9SF4 transmembrane 9 superfamily protein member 4 737633,1580863 15489334,14702039,12477932,11780052,9039502,8889548,19893578 737633 9777 NM_014742,AL049539,CH471077,CQ834450,CQ834502,AK124411,AK126534,AK294980,AK296500,AK302439,AK316293,BC005173,BC021107,BC022850,BM976438,CR610143,CR611710,D87444,DC381660 NP_055557,CAB75607,EAW76389,EAW76390,EAW76391,CAH05440,CAH05466,BAC86581,BAG58049,BAG59133,BAG63738,BAH14664,AAH21107,AAH22850,BAA13385,Q6ZTK5,Q92544,CAQ09924 Hs.654665 KIAA0255|dJ836N17.2 OTTHUMP00000030581|transmembrane 9 superfamily member 4 protein-coding 1605964 TMBIM1 transmembrane BAX inhibitor motif containing 1 16636500,16607040,16303743,15498874,15489334,15278903,14702039,12477932,11996952,18440869 64114 BC026693,BX471120,CA488388,CD514853,CF994144,CR603628,CR615165,AC021016,CH471063,CQ871236,AB257295,AF173384,AF193045,AK027755,AK075465,AK090618,AK093911,AK130380,AK130713,AK298123,AK298500,AK300597,BC007980,BC013428,BC026348,NM_022152 AAH26693,Q1MW40,Q7Z4D9,Q969X1,ABM81925,ABM84708,NP_071435,EAW70607,EAW70608,EAW70609,CAH56799,BAE93467,AAQ13625,AAG22473,BAB55346,BAC11636,BAG52198,BAG52782,BAG60403,BAG60707,BAG62294,AAH07980,AAH13428,AAH26348 Hs.591605 LFG3|MST100|MSTP100|PP1201|RECS1 OTTHUMP00000207318|protein RECS1 homolog|transmembrane BAX inhibitor motif-containing protein 1 protein-coding 1602117 TMBIM4 transmembrane BAX inhibitor motif containing 4 19553469,17353931,18440869,17319741,16303743,15489334,12477932,11042152,10931946,10810093,9373149,8125298 51643 CQ783072,AC078927,CH471054,AF113127,AF151877,AF161526,AF182041,AF182414,AK075069,AK225158,AL117550,BC004401,BC020613,BC052273,BC070366,BC094852,BG534013,CR597581,CR597621,NM_016056 Q9NZZ2,CAF86277,NP_057140,EAW97158,EAW97159,EAW97160,EAW97161,EAW97162,AAF14868,AAD34114,AAF29141,AAG16898,AAG14950,BAC11384,AAH04401,Q7Z782,Q9HC19,Q9HC24,AAI48529,AAI56585 Hs.505934 CGI-119|GAAP|LFG4|S1R|ZPRO Z-protein|transmembrane BAX inhibitor motif-containing protein 4 protein-coding 736097 TMBIM6 transmembrane BAX inhibitor motif containing 6 2291960,1598407,2291959,2291961,2291958,1580863 19913121,20628086,10087504,8530040,19433315,19339548,19290886,19284981,18440869,18378668,18299329,17526500,16353209,16344560,15489334,12477932,10198159,9660918,9373149,8889549,8125298,20359348,12875974,19579059,20123969 2291960,2291959,2291961,2291958 7009 NM_001098576,AC084037,AC131157,CH471111,CQ834362,AA057740,AF033095,AK026605,AK124849,AK130050,AK130462,AK225804,AK299587,AK304577,AK312238,AY736129,NM_003217,BC000916,BC036203,BQ613936,CR602155,CR623040,CR624817,CR625997,DA476870,DC319835,DC349385,X75861,CR611691 NP_003208,NP_001092046,EAW58089,EAW58090,EAW58091,EAW58092,EAW58093,CAH05396,AAB87479,BAG54105,BAH13075,BAH14220,BAG35171,AAU29521,AAH00916,AAH36203,CAA53472,P55061 Hs.35052 BAXI1|BI-1|TEGT bax inhibitor 1|testis enhanced gene transcript|testis enhanced gene transcript (BAX inhibitor 1)|testis-enhanced gene transcript protein|transmembrane BAX inhibitor motif-containing protein 6 protein-coding 1318596 TMC1 transmembrane channel-like 1 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq] 1599440,1580863 16287143,15605408,14702039,12812529,12477932,11850623,11850618,8755925,8634715,20373850,19187973,18616530,18259073,17877751,19180119,20379614,20447146 117531 NM_138691,NG_008213,AL162416,AL449323,AL590662,AL591662,CH471089,AF417578,AK098607,AK307461,BC103955,BC103956,BC114380,BC114449,BC141860 NP_619636,CAH72129,CAI15164,CAH72029,EAW62539,EAW62540,EAW62541,AAL86399,BAC05351,AAI03956,AAI03957,AAI14381,AAI41861,Q3MI88,Q8TDI8,AAI56562,AAI72523 Hs.670211 DFNA36|DFNB11|DFNB7 OTTHUMP00000021473|transmembrane channel-like protein 1|transmembrane cochlear-expressed protein 1|transmembrane, cochlear expressed, 1 protein-coding 1320766 TMC2 transmembrane channel-like 2 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq] 1580863 18259073,16344560,14702039,12975309,12906855,12812529,12477932,11850618,11780052,11076863 117532 AF417580,AK094789,AK127751,AK294013,AK309782,AK316261,AY358613,DA769512,NM_080751,AL049712,CH471133 EAX10593,AAL86401,BAC04423,BAG57374,BAH14632,AAQ88976,Q8TDI7,AAI11451,EAX10592,NP_542789,CAI22420,EAX10591 Hs.352626 C20orf145|dJ686C3.3 transmembrane channel-like protein 2|transmembrane cochlear-expressed protein 2|transmembrane, cochlear expressed, 2 protein-coding 1352795 TMC3 transmembrane channel-like 3 1580863 16572171,12906855,12812529,12477932 342125 NM_001080532,AC103858,AY236490,AY263163,BC132679,BC143410,BC157874 NP_001074001,AAP69868,AAP78778,AAI32680,AAI43411,AAI57875,Q7Z5M5 Hs.253489 transmembrane channel-like protein 3 protein-coding 1312473 TMC4 transmembrane channel-like 4 1580863 12906855,12812529,12477932 147798 CU457734,NM_144686,NM_001145303,AC012314,CH471135,AA578987,AK314973,AY236492,AY263166,BC025323,BC032477,CR605550 NP_653287,NP_001138775,EAW72196,EAW72197,EAW72198,CAP19117,CAP19118,BAG37472,AAP69870,AAP78781,AAH25323,AAH32477,Q7Z404,ABM83107,ABM86303 Hs.355126 MGC39329 transmembrane channel-like protein 4 protein-coding 1315994 TMC5 transmembrane channel-like 5 1580863 12812529,12477932,18649358,14702039,12975309,12906855,20379614 79838 NM_001105249,NM_001105248,NM_024780,AC130456,CH471186,AI738488,AK023655,AK093944,AK097718,AK131202,AK299055,AK304431,AY236494,AY263164,AY358155,BC027602,BC038118,BC070101,CR749359 NP_001098719,NP_001098718,NP_079056,EAW50279,EAW50280,EAW50281,BAB14629,BAG52791,BAG53520,BAG54750,BAH12939,BAH14182,AAP69872,AAP78779,AAQ88522,AAH27602,AAH38118,CAH18212,Q6UXY8 Hs.115838 FLJ13593 transmembrane channel-like protein 5 protein-coding 1351267 TMC6 transmembrane channel-like 6 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq] 10844558,18158319,17081983,17008061,16487602,15489334,15042430,14702039,12906855,12812529,12477932,12426567,10084299,19706093 11322 AY099356,NM_001127198,NG_007879,AC021593,CH471099,AB002405,AK021738,AK074065,AK096076,AK303165,AK303584,AK310734,AY057379,NM_007267,AY099357,AY236496,BC007766,BC018346,BC023597,BC035648,CR596410,DQ104440 NP_009198,NP_001120670,EAW89487,EAW89488,EAW89489,EAW89490,EAW89491,EAW89492,EAW89493,BAA24179,BAB13884,BAB84891,BAG53207,BAG64265,BAG64602,AAL25836,AAM44452,AAM44453,AAP69874,AAH07766,AAH18346,AAH23597,AAH35648,AAZ20186,Q7L2M4,Q7Z403,Q96I77,ABM83242,ABM86444 Hs.632227 EV1|EVER1|EVIN1|FLJ17776|LAK-4P epidermodysplasia verruciformis 1|epidermodysplasia verruciformis protein 1|expressed in activated T/LAK lymphocytes|protein LAK-4|transmembrane channel-like protein 6 protein-coding 1344679 TMC7 transmembrane channel-like 7 1580863 16344560,14702039,12906855,12812529,12477932 79905 NM_024847,NM_001160364,AC099518,CH471186,AF088010,AK024893,AK094664,AK293874,AY236498,AY263165,BC036205,BC047719,CR933669,DA161026 NP_079123,NP_001153836,EAW50266,EAW50267,BAB15032,BAG52905,BAG57263,AAP69876,AAP78780,AAH36205,AAH47719,CAI45966,Q7Z402 Hs.187377,Hs.531661 DKFZp781O2274|FLJ21240 transmembrane channel-like protein 7 protein-coding 1353841 TMC8 transmembrane channel-like 8 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq] 18224692,18158319,17960179,17711520,17081983,15489334,14702039,12906855,12812529,12477932,12426567,10844558,19706093 147138 NM_152468,NG_007881,AC021593,CH471099,AK090478,AK097987,AK125672,AK128327,AK303499,AK310623,AL834508,AY057380,AY099358,AY099359,AY236500,BC028076,BC110296,BC141865,DC407759,CR598574 NP_689681,EAW89494,EAW89495,EAW89496,EAW89497,BAC03459,BAG54660,BAG64532,AAL25837,AAM44454,AAM44455,AAP69878,AAI10297,AAI41866,Q8IU68 Hs.592102 EV2|EVER2|EVIN2|FLJ40668|FLJ43684|MGC102701|MGC40121 epidermodysplasia verruciformis 2|epidermodysplasia verruciformis protein 2|transmembrane channel-like protein 8 protein-coding 1349742 TMCC1 transmembrane and coiled-coil domain family 1 737633,1580863 17081983,16344560,15489334,12477932,12107410,9872452,20379614,8889549 737633 23023 NM_001128224,AC023162,AC083799,AC117492,AL449209,CH471052,AB018322,AK124671,AK291448,NM_001017395,AK293408,BC012480,BC030619,BC034284,BC039859,BC047517,BX640712,CA389758,CA867002,CR749206,DB085398,AA285018,AI609644,BM504779,NR_033361 NP_001017395,NP_001121696,EAW79231,EAW79232,EAW79233,EAW79234,EAW79235,EAW79236,BAA34499,BAG54066,BAF84137,BAG56915,AAH34284,AAH39859,CAE45831,CAH18064,O94876,Q6N039,Q8N4H2 Hs.477547,Hs.659829 DKFZp686M0169|FLJ42680 OTTHUMP00000215937|transmembrane and coiled-coil domains 1|transmembrane and coiled-coil domains protein 1 protein-coding 1344956 TMCC1P transmembrane and coiled-coil domains 1 pseudogene 494556,100128132 AC021546,NG_016605 TMCC1P pseudo 1346306 TMCC2 transmembrane and coiled-coil domain family 2 737633,1580863 15345747,14702039,12975309,12477932,12168954,9455484,19019082,16169070,19820697,8889548,8889549 737633 9911 NM_014858,AC093422,CH471067,AB001596,AB007950,AK095816,AK131419,AK293734,AK314398,AY358192,BC041019,BC053876,BC131629,CR596838,CR601467,BM674135,T51366 NP_055673,EAW91545,EAW91546,EAW91547,EAW91548,BAB46924,BAA32326,BAG53139,BAD18566,BAH11583,BAG37022,AAQ88559,AAH41019,AAH53876,AAI31630,O75069,Q6UXV5,Q7Z6C6,Q8IW47 Hs.6360 FLJ38497|HUCEP11|KIAA0481 cerebral protein 11|transmembrane and coiled-coil domains 2|transmembrane and coiled-coil domains protein 2 protein-coding 1346901 TMCC3 transmembrane and coiled-coil domain family 3 737633,1580863 15489334,12477932,10737800,10574462,10574461,20306291,20379614 737633 57458 NM_020698,AC026672,CH471054,AB032971,AB073655,AI361720,BC040535,BE158711,CA772279,CR620972 NP_065749,EAW97510,EAW97511,EAW97512,BAA86459,AAH40535,Q9ULS5,ACE87296,ACE86615 Hs.370410 KIAA1145 transmembrane and coiled-coil domains 3|transmembrane and coiled-coil domains protein 3 protein-coding 1601866 TMCO1 transmembrane and coiled-coil domains 1 17081983,16710414,16565220,15489334,15146197,14702039,12975309,10393320,12477932,9110174,8619474,19536175,20018682 54499 AY359027,AY763589,BC000104,CN430121,CR601444,CR604565,CR607946,CR610775,CR611739,CR614041,CR614153,CR617534,CR621470,CR622258,CR626447,NM_019026,AL451074,CH471067,AB020980,AF070626,AF274935,AF277194,AI379550,AK093302,AK298614,AK316080,AK316610 AAQ89386,AAV34755,AAH00104,Q9UM00,BAG38197,NP_061899,CAH74064,EAW90762,EAW90763,EAW90764,EAW90765,BAA86974,AAC25388,AAK07514,AAK07549,BAH12827,BAH14451 Hs.31498,Hs.715707 HP10122|PCIA3|PNAS-136|RP11-466F5.7|TMCC4 putative membrane protein|transmembrane and coiled-coil domain-containing protein 1|transmembrane and coiled-coil domains 4|transmembrane and coiled-coil domains protein 4|xenogeneic cross-immune protein PCIA3 protein-coding 1603584 TMCO2 transmembrane and coiled-coil domains 2 16710414,15489334,12477932 127391 NM_001008740,AL050341,CH471059,BC108666,BU567634,BU569147,CR613757,DB518323,HC006910,HC044827 NP_001008740,CAB81609,EAX07235,AAI08667,Q7Z6W1,CBH19260,CBH30743 Hs.406265 MGC131705|dJ39G22.2 dJ39G22.2 (novel protein)|transmembrane and coiled-coil domain-containing protein 2 protein-coding 1315285 TMCO3 transmembrane and coiled-coil domains 3 20029029,16344560,15489334,15057823,14702039,12975309,12477932 55002 CH471085,AF209505,AK000630,AK074415,AY358768,BC012564,BC068515,CR601002,CR624956,DA803233,NM_017905,AL442125 EAX09212,EAX09213,EAX09214,EAX09215,AAM92892,BAA91295,BAB85074,AAQ89128,AAH12564,AAH68515,Q6UWJ1,CAI39785,NP_060375,CAI39784 Hs.317593 C13orf11|FLJ20623 B230339H12Rik|chromosome 13 open reading frame 11|putative LAG1-interacting protein|transmembrane and coiled-coil domain-containing protein 3 protein-coding 1606122 TMCO4 transmembrane and coiled-coil domains 4 12477932,8889548,20379614 255104 AK127543,AK309310,AK309900,AL049846,AL049847,AL832390,BC053600,BM974434,BX640987,CR611925,NM_181719,AL031727,AL031730,AL391883,CH471134 EAW94900,EAW94901,EAW94902,EAW94903,BAC87027,CAB42850,CAB42851,AAH53600,CAE45994,Q5TGY1,Q6ZSC6,ACE87628,ACE86940,NP_859070,CAI19015,CAI19016,CAI20091,CAI20092,EAW94897,EAW94898,EAW94899 Hs.656313 DKFZp686C23231|RP5-1056L3.6 OTTHUMP00000002784|transmembrane and coiled-coil domain-containing protein 4 protein-coding 1606151 TMCO5A transmembrane and coiled-coil domains 5A 14702039,12477932,19679847 145942 AC091005,CH471125,AK093126,AK310517,BC029221,HC007158,HC044837,NM_152453 EAW92362,EAW92363,BAC04065,AAH29221,Q8N6Q1,CBH19384,CBH30748,NP_689666 Hs.179646 FLJ35807|MGC35118|TMCO5 transmembrane and coiled-coil domain-containing protein 5A|transmembrane and coiled-coil domains 5 protein-coding 2306722 TMCO5B transmembrane and coiled-coil domains 5B 19096130,16572171,16344560 440268 XR_041884,XR_041886,XR_041885,AC055874,AK098530,DB054691 A8MYB1 Hs.439998 transmembrane and coiled-coil domain-containing protein 5B|transmembrane and coiled-coil domains 5B pseudo 1605060 TMCO6 transmembrane and coiled-coil domains 6 16344560,14702039,12477932,16189514,19423540,19729601,20406964,20438785 55374 NM_018502,AC116353,CH471062,AA398902,AK097088,AK289495,AK308722,BC001910,BC009618,BC065828,BQ066786,CR594879,CR626186,DA035906,AK301502 NP_060972,EAW62032,EAW62033,EAW62034,EAW62035,EAW62036,BAF82184,AAH01910,AAH09618,Q96DC7,ABM81913,ABM85089,BAG63013 Hs.712585 FLJ39769|PRO1580 transmembrane and coiled-coil domain-containing protein 6 protein-coding 1606243 TMCO7 transmembrane and coiled-coil domains 7 14702039,12477932,11214970,12421765 79613 NM_024562,AC009027,AC009082,AC009137,CH471092,AB051533,AK022750,AK095333,BC001813,BC001839,BC015617,BC092500,BQ005531 NP_078838,EAW83246,BAB21837,BAB14224,BAG53028,Q9C0B7 Hs.13526 FLJ12688|KIAA1746 transmembrane and coiled-coil domain-containing protein 7 protein-coding 1354453 TMED1 transmembrane emp24 protein transport domain containing 1 The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1). This protein lacks any similarity to other interleukin 1 ligands. The functional significance of its interaction with IL1RL1 is not known. [provided by RefSeq] 1580863 8621446,15489334,15231748,15057824,12477932,11466339,20406635 11018 NM_006858,AC007229,CH471106,BC002443,BC018831,BF794897,CR612632,CR616116,CR618553,CR623047,U41804 NP_006849,AAD23605,EAW84152,AAH02443,AAC50419,Q13445,ABM83566,ABM86804 Hs.515139 IL1RL1LG|Il1rl1l|MGC1270|ST2L IL1RL1-binding protein|T1/ST2 receptor binding protein|interleukin 1 receptor-like 1 ligand|interleukin-1 receptor-like 1 ligand|putative T1/ST2 receptor-binding protein|transmembrane emp24 domain containing 1|transmembrane emp24 domain-containing protein 1 protein-coding 731656 TMED10 transmembrane emp24-like trafficking protein 10 (yeast) This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq] 2317276 20164256,20546612,19343178,19710022,16641999,15308636,19046380,18652896,18405662,17081065,15489334,15146197,14702039,12508121,12477932,11739402,11689559,10376215,9373149,8663407,8125298,7596406,11703931,10214941,11726511 2317276 10972 NM_006827,AC007055,AL049780,AL691403,CH471061,U61734,AJ004913,AK023615,AK056156,AK222972,AK296800,AK302920,AK308864,AK310371,AK312384,AL832012,BC001496,BC001825,BG675810,BX248754,BX504393,CN420777,CR591402,CR599482,CR602807,CR603760,CR606438,CR612906,CR613899,CR625338,DB528262,L40391,L40397,X97442 NP_006818,AAD31941,EAW81223,EAW81224,EAW81225,AAB03625,CAA06213,BAD96692,BAG59374,BAG64085,BAG35302,CAD89913,AAH01496,AAH01825,CAD66561,AAC42003,CAA66071,P49755,Q53GF9 Hs.74137 P24(DELTA)|S31I125|S31III125|TMP21|Tmp-21-I 21 kDa transmembrane trafficking protein|21 kDa transmembrane-trafficking protein|p24delta|transmembrane emp24 domain-containing protein 10|transmembrane protein Tmp21 protein-coding 1606664 TMED10P transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 10376215,8663407 286102 NR_002807,AF235103,AJ004914,X97444 Hs.641757 TMED10P|Tmp21-II pseudo 3207497 TMED10P2 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2 100129727 AC080005,NG_023009 pseudo 2946886 TMED11P transmembrane emp24 protein transport domain containing 11, pseudogene 11329013,19429673,19566487 100379220 AA887029,BG190838,BG215779,DY654917,NR_033768,AC092535 Hs.635208 pseudo 735876 TMED2 transmembrane emp24 domain trafficking protein 2 18029348,20361938,11703931,10214941,8703076,8663407,11739402,16641999,15308636,17693410,15489334,12477932 10959 NM_006815,AC055713,CH471054,AK024976,AK298167,AK303189,AK312975,BC025957,BI086507,CR541663,CR541682,CR612554,CR620150,X92098 NP_006806,EAW98417,EAW98418,BAG60439,BAG64282,BAG35812,AAH25957,CAG46464,CAG46483,CAA63069,Q15363,Q6FHT8 Hs.75914,Hs.592682 FLJ21323|P24A|RNP24 coated vesicle membrane protein|membrane protein p24A|transmembrane emp24 domain-containing protein 2 protein-coding 1347293 TMED3 transmembrane emp24 protein transport domain containing 3 737633 15489334,12975309,12477932,9373149,8125298,11739402 737633 23423 AC011797,AC027811,CH471136,AJ132270,AK075529,AK222516,AK289434,AK297710,AK304148,AL109672,AL109673,AY358974,BC000027,BC010853,BC017495,NM_007364,BC111547,CR457384,CR590619,CR591443,CR593572,CR601983,CR605050,CR605716,CR607648,CR608143,CR608578,CR610279,CR611061,CR612506,CR612589,CR618083,CR618237,CR618755,CR619199,CR621451,BC022232 NP_031390,EAW99138,EAW99139,CAB40416,BAC11674,BAD96236,BAF82123,BAG60067,BAG65039,CAB52017,CAB52018,AAQ89333,AAH00027,AAH10853,AAH17495,AAH22232,AAI11548,CAG33665,Q53HR4,Q8N2D9,Q9UMB6,Q9Y3Q3 Hs.513058 C15orf22|MGC133022|P24B 1200002G13Rik|integral type I protein|membrane protein p24B|transmembrane emp24 domain containing 3|transmembrane emp24 domain-containing protein 3 protein-coding 1352955 TMED4 transmembrane emp24 protein transport domain containing 4 1331357,1580863 18326488,16381901,16303743,15489336,15489334,12761501,12690205,12477932,11230166,11076863,8076819 1331357 222068 NM_182547,AC004938,CH236960,CH471128,AB097009,AK074557,AK290125,AK294122,AY191223,BC001576,BC025705,BC035467,BC052641,BC053583,BC057851,BX647965,CR623248,CR626080 CAL38591,NP_872353,EAL23751,EAW61090,EAW61091,EAW61092,BAC77362,BAC11058,BAF82814,BAG57455,AAP20105,AAH52641,AAH57851,Q7Z7H5,CAL38079 Hs.598832,Hs.715273 ERS25|HNLF OTTHUMP00000207700|endoplasmic reticulum stress-response protein 25 kDa|putative NF-kappa-B-activating protein 156|putative NFkB activating protein HNLF|transmembrane emp24 domain-containing protein 4 protein-coding 1349482 TMED5 transmembrane emp24 protein transport domain containing 5 737633,1580863 15308636,16710414,15489334,12975309,12477932,10810093,18549622,8889548,17207965 737633 50999 NM_016040,AC126124,AL117354,CH471097,AF151858,AK125882,AK293308,AK312787,AL080084,AY359039,BC016365,BC016556,BC038511,BC070051,CR592267,CR601720,CR607162,CR936808,BC023274,BX642274,CA314982,NM_001167830,NR_030761 NP_057124,CAI23499,CAI23500,CAI23501,EAW73081,EAW73082,AAD34095,BAG56828,BAG35650,AAQ89398,AAH16365,AAH16556,AAH38511,AAH70051,Q49AG2,Q9Y3A6,NP_001161302,ADQ31881 Hs.482873 CGI-100|DKFZp781B2248|RP5-976O13.2 OTTHUMP00000012323|transmembrane emp24 domain-containing protein 5 protein-coding 1346090 TMED6 transmembrane emp24 protein transport domain containing 6 737633,1580863 15489334,12975309,12477932 737633 146456 NM_144676,AC026464,CH471092,AY358268,BC020827,AA804957,BI600655,CS300673 NP_653277,EAW83272,AAQ88635,AAH20827,Q8WW62,ABM82323,ABM85502,CAK32337 Hs.130849 MGC23911|PRO34237|SPLL9146 transmembrane emp24 domain-containing protein 6 protein-coding 1342694 TMED7 transmembrane emp24 protein transport domain containing 7 737633,1580863 16344560,16303743,15489334,14702039,12477932,10810093,9490301,17207965,21048031 737633 51014 CQ783319,NM_181836,AC010226,CH471086,CQ783782,AB002450,AB002451,AK027512,AK074962,AK304210,BC019349,BC107426,DB152125,DC321837 CAF86531,NP_861974,EAW48959,CAF86859,BAB55166,BAC11318,BAG65083,AAH19349,AAI07427,Q3B7W7,Q9Y3B3,ADQ31606 Hs.642817 CGI-109|FLJ57776|FLJ90481 OTTHUMP00000162867|OTTHUMP00000162868|transmembrane emp24 domain-containing protein 7 protein-coding 2837468 TMED7-TICAM2 TMED7-TICAM2 readthrough 12477932,12721283,16303743,19412184,20967262 100302736 AC010226,AK075218,AY304581,AY304584,BC064944,CH471086,NM_001164468,NM_001164469 Q8NBU8,AAQ97430,AAQ97433,BAC11479,EAW48961,NP_001157940,NP_001157941,Q6JUT2 Hs.642817 FLJ90737|TAG OTTHUMP00000162868|OTTHUMP00000219409|TMED7-TICAM2 read-through transcript|TRAM adaptor with GOLD domain protein-coding 1347349 TMED8 transmembrane emp24 protein transport domain containing 8 18029348,15489334,15334068,14702039,12508121,12477932 283578 AC007954,CH471061,AK025695,AK095650,AY598329,BC101510,BX248262,NM_213601 AAF62560,EAW81282,EAW81283,BAG53098,AAT06740,AAI01511,CAD62590,Q6PL24,Q86T10,NP_998766 Hs.26403,Hs.200413 FAM15B|MGC126559 family with sequence similarity 15, member B|protein TMED8|transmembrane emp24 domain containing 8 protein-coding 1344143 TMED9 transmembrane emp24 protein transport domain containing 9 737633 15308636,15489334,12754519,12477932,10744732,1918067 737633 54732 NM_017510,AC139795,BX640856,CH471195,AF441399,AK298435,AK313292,BC001123,BG830564,CR591581,CR592044,CR592143,CR593286,CR595101,CR595378,CR599794,CR600863,CR602419,CR603395,CR605327,CR610733,CR614797,CR615401,CR621926,CR623079,CR624426,CR626796,X90872 NP_059980,EAW84966,EAW84967,EAW84968,AAL35268,BAG60656,BAG36099,AAH01123,CAA62380,Q9BVK6 Hs.279929 HSGP25L2G glycoprotein 25L2|gp25L2 protein|transmembrane emp24 domain-containing protein 9 protein-coding 735335 TMEFF1 transmembrane protein with EGF-like and two follistatin-like domains 1 14563676,12743596,12477932,9730596,8752111,20583170 8577 NM_003692,AL353805,AL354917,CH471105,BC021991,BC035056,DN602026,BF436262 NP_003683,CAI12543,CAI16192,EAW58936,AAH35056,Q8IYR6,ABM82658,ABM85835 Hs.598100 C9orf2|CT120.1|H7365|TR-1 OTTHUMP00000021798|OTTHUMP00000220352|TR-1|cancer/testis antigen family 120, member 1|tomoregulin-1|transmembrane protein with EGF-like and one follistatin-like domain protein-coding 1318843 TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 2290485,2290486,2290490,2290489 10903839,10987305,19288010,19240061,19040536,18799374,18070176,18059030,17942404,17903298,17352030,16619216,15489334,15340161,15068392,14702039,12975309,12729735,12477932,12460892,12384516,11668495,11120884,9373149,8125298,20379614,16303743,16234815,15824739,16439095,15815621,10600548 2290485,2290486,2290490,2290489 23671 NM_016192,AC092644,AC098617,AF242221,AF264150,CH471058,CQ840932,AB004064,AB017269,AF179274,AF242222,AK054646,AK074507,AK074632,AK222691,AK315376,AL157430,AY358907,BC008973,CR457390,DQ133599,FB353542 NP_057276,AAY14874,AAX88893,AAG49451,AAF91397,EAX10831,EAX10832,CAH05705,BAA90820,BAA87897,AAD55776,AAG49452,BAC11030,BAG51979,BAG37769,CAB75654,AAQ89266,AAH08973,CAG33671,AAZ43216,Q9UIK5,BAD96411,CAR82354 Hs.144513 CT120.2|HPP1|TENB2|TPEF|TR OTTHUMP00000163599|TR-2|cancer/testis antigen family 120, member 2|hyperplastic polyposis protein 1|tomoregulin|tomoregulin-2|transmembrane protein TENB2 protein-coding 1602475 TMEM100 transmembrane protein 100 19058789,16344560,15489334,14702039,12477932,16712791 55273 NM_001099640,NM_018286,AC009837,CH471109,AK001832,AK095175,BC010128,BQ027747,CB152959,CR596094,CR601559,CR607494,CR626672,DA579336,DA896013 NP_001093110,NP_060756,EAW94537,EAW94538,EAW94539,BAA91931,BAG52999,AAH10128,Q9NV29 Hs.173233 FLJ10970|FLJ37856 transmembrane protein 100 protein-coding 1601840 TMEM101 transmembrane protein 101 12761501,15489334,12477932,17207965,20532202 84336 CR596239,CR597495,CR603006,CR605090,CR606769,CR606986,CR609688,CR610516,CR610569,CR611268,CR611622,CR614002,CR614239,CR614500,CR617955,CR623205,CR624536,CR625688,NM_032376,AC023855,CH471178,AB097008,AK130810,AK172826,AK313855,BC007438,CR590675,AK294237 Q96IK0,NP_115752,EAW51641,EAW51642,BAC77361,BAG36583,AAH07438,BAG57535,ADQ31859 Hs.514211 FLJ23987|MGC4251 putative NF-kappa-B-activating protein 130|transmembrane protein 101 protein-coding 1604962 TMEM102 transmembrane protein 102 17828305,15489334,15324660,14702039,12477932 284114 NM_178518,AC113189,CH471108,AK094197,BC046189,CR626016 NP_848613,EAW90189,EAW90190,BAC04306,AAH46189,Q8N9M5 Hs.655662 CBAP|FLJ36878 OTTHUMP00000163819|common beta-chain associated protein|transmembrane protein 102 protein-coding 1606542 TMEM104 transmembrane protein 104 17081983,15489334,14702039,12477932,19615732 54868 NM_017728,AC016888,AC068874,CH471099,AK000262,AK074029,AK291159,AK296621,AL137521,BC011552,BC037278,CN479614,DN999695 NP_060198,EAW89198,EAW89199,EAW89200,EAW89201,BAA91039,BAB84855,BAF83848,BAG59229,CAB70787,AAH37278,Q8NE00 Hs.370262 FLJ00021|FLJ20255 transmembrane protein 104 protein-coding 1602279 TMEM105 transmembrane protein 105 14702039 284186 BM998205,NM_178520,AC027601,CH471099,AK096111 NP_848615,EAW89647,BAC04703,Q8N8V8 Hs.364191 FLJ38792 transmembrane protein 105 protein-coding 1603282 TMEM106A transmembrane protein 106A 15489334,14702039,12477932,17207965 113277 NM_145041,AC087365,AC109326,AX083394,CH471152,AK056132,BC012139,BC146976,BC157892 NP_659478,CAC33297,EAW60954,EAW60955,BAB71101,AAH12139,AAI46977,AAI57893,Q96A25,ADQ31658 Hs.536474 MGC20235 transmembrane protein 106A protein-coding 1603394 TMEM106B transmembrane protein 106B 17081983,16344560,15489334,14702039,12853948,12690205,12477932,9847074,9373149,8125298,20154673,17207965,20383883 54664 NM_018374,NM_001134232,AC007321,CH236948,CH471073,AK001834,AK002135,AK090805,AK223263,AK311651,BC028108,BC033901,BC039741,CR624005,DA452299 NP_060844,NP_001127704,AAQ96840,EAL24296,EAW93638,EAW93639,EAW93640,EAW93641,EAW93642,BAA92099,BAD96983,AAH28108,AAH33901,AAH39741,Q8N353,Q9NUM4,ADQ31827 Hs.396358 FLJ11273|MGC33727 OTTHUMP00000155197|transmembrane protein 106B protein-coding 1601972 TMEM106C transmembrane protein 106C 16344560,15489334,15342556,15146197,12477932,17207965 79022 NM_001143843,NM_024056,NM_001143841,AC004801,CH471111,AK299154,AK310035,AK313698,BC000854,BC107792,BP228371,BQ227924,CN256547,CR591128,CR591541,CR593375,CR600883,CR616427,CR617442,CR619115,CR620854,CR623527,CR623552,CX763149,DA567999,DA571733,DQ020163,NM_001143842,CR618360 NP_001137315,NP_076961,NP_001137313,EAW57965,BAH12960,BAG36445,AAH00854,AAI07793,NP_001137314,AAY84826,Q9BVX2,ADQ32675 Hs.596726 MGC111210|MGC5576 endoplasmic reticulum membrane protein overexpressed in cancer|transmembrane protein 106C protein-coding 1603948 TMEM107 transmembrane protein 107 15489334,14702039,12975309,12477932,19727342,17207965 84314 NM_032354,NM_183065,AC129492,CH471108,AF311338,AK027813,AY358525,BC006292,BC070231,BC127649,BM920977,BU852346 NP_115730,NP_898888,EAW90083,EAW90084,EAW90085,AAK38512,BAG51379,AAQ88889,AAH70231,AAI27650,Q6UX40,ADQ32046 Hs.513933 GRVS638|MGC10744|PRO1268 transmembrane protein 107 protein-coding 1604309 TMEM108 transmembrane protein 108 20379614,18519826,15489334,14702039,12975309,12477932,11230166,11214970,8889548,21102462 66000 NM_001136469,AC018472,AC055753,AC079942,AC092984,CH471052,AB051477,AK095050,AL136578,AY358381,BC000568,NM_023943,BI489935,BM667108,CR609282,CR618323,DB522014 NP_076432,NP_001129941,EAW79182,EAW79183,EAW79184,BAB21781,BAG52976,CAB66513,AAQ88747,AAH00568,Q6UXF1 Hs.191616 CT124|MGC3040 OTTHUMP00000216229|cancer/testis antigen 124|transmembrane protein 108 protein-coding 1601968 TMEM109 transmembrane protein 109 18029348,15489334,12477932,9110174,8619474,20060811 79073 AF131803,CR621258,NM_024092,AP003721,CH471076,AK303961,AK313913,BC001309,BI463800,CR594505,CR607310,CR609829,CR620717 Q9BVC6,NP_076997,EAW73906,BAG64885,BAG36636,AAH01309 Hs.13662 MGC5508 mg23|mitsugumin-23|transmembrane protein 109 protein-coding 1320357 TMEM11 transmembrane protein 11 2110658,16189514,15489334,12477932,16169070,20877624 8834 NM_003876,NR_024547,AC087294,AC087393,CH471210,AK311965,BC002819,BC005268,BC020815,BC035874,BT006768,CR606340,CR611577,CR618067,CR623488,CR625355,DC364753,X51804 NP_003867,EAX02598,EAX02599,BAG34905,AAH02819,AAH05268,AAH20815,AAP35414,CAA36102,P17152 Hs.592945 C17orf35|PM1|PMI putative receptor protein|transmembrane protein 11 protein-coding 1602041 TMEM110 transmembrane protein 110 14702039,16344560,15489334,12477932 375346 AK094932,AK124386,BM802543,BX360795,BX648562,DA619807,DA730528,DB362400,NM_198563,AC099667,CH471055,AY726591,BC022209,BC047015,CR614295,CR625639 NP_940965,EAW65266,AAH47015,Q86TL2 Hs.705605 DKFZp667E1121|DKFZp779M0254|FLJ37613|FLJ42395|MGC52022 OTTHUMP00000213875|OTTHUMP00000218922|transmembrane protein 110 protein-coding 1601753 TMEM111 transmembrane protein 111 15489334,14702039,12477932,10931946,9373149,8125298,17207965 55831 AC018809,CH471055,CQ834268,AF157321,AK172843,AK222953,AK312008,BC010883,BC022807,CR599078,NM_018447,AC022007 EAW64047,CAH05349,AAF67487,BAD18807,BAD96673,BAG34946,AAH22807,Q9P0I2,NP_060917,ADQ32234 Hs.475392 POB 30 kDa protein|partial optokinetic response b|transmembrane protein 111 protein-coding 2292465 TMEM114 transmembrane protein 114 17492639,15489334,12477932,11181995 283953 NM_001146336,AC074052,AC137777,CH891104,EF424218,AI887966,AW135815,BC150511 NP_001139808,EAW50652,ABN55916,B3SHH9 Hs.150849 transmembrane protein 114 protein-coding 1605401 TMEM115 transmembrane protein 115 17973242,16641997,15489334,12477932,11085536,9856955 11070 NM_007024,AC002481,CH471055,Z84492,AK314166,BC011948,BC017367,BF305563,CR457020,CR592998,CR599068,CR605338,CR624062,U09584 NP_008955,AAB67308,EAW65115,EAW65116,EAW65117,BAG36850,AAH11948,AAH17367,CAG33301,AAA92281,Q12893,ABM83032,ABM86226,CAM28372 Hs.91566 PL6 PP6|placental protein 6|transmembrane protein 115 protein-coding 1603287 TMEM116 transmembrane protein 116 15489334,14702039,12477932,17207965 89894 NM_138341,AC004024,AC073575,CH471054,CQ783530,AK074648,AL833501,BC000282,BC022360,BC048796,BC070135,CR592366,CR612135,BF435254,BI828772,NM_001193453,NM_001193531 NP_612350,EAW97982,EAW97983,EAW97984,EAW97985,EAW97986,EAW97987,EAW97988,EAW97989,CAF86706,BAC11112,AAH00282,AAH22360,AAH48796,AAH70135,Q8NCL8,Q9BWF8,NP_001180382,NP_001180460,ADQ32041 Hs.506815 FLJ90167 transmembrane protein 116 protein-coding 1604277 TMEM117 transmembrane protein 117 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863,20379614,19913121,20628086 84216 NM_032256,AC024934,AC025030,AC025253,AC073653,AC076972,AC093012,CH471111,AK057287,AK097511,AL136855,BC016819,BC030284,BC042192,BC060798,CR614846 NP_115632,EAW57871,EAW57872,BAB71411,BAG53479,CAB66789,AAH30284,AAH60798,Q9H0C3,CAL38624 Hs.444668 DKFZp434K2435 transmembrane protein 117 protein-coding 1602276 TMEM119 transmembrane protein 119 16303743,15489334,14702039,12975309,12477932 338773 NM_181724,AC008119,CH471054,CS051333,AK075501,AK097290,AK295288,AK301202,AL521683,AY358389,BC096825,BX333871,CR611280,CR613428,DC349145,ES311302 NP_859075,EAW97823,CAI72161,BAC11656,BAG58272,BAG62779,AAQ88755,AAH96825,Q4V9L6 Hs.449718,Hs.727407 transmembrane protein 119 protein-coding 1605325 TMEM120A transmembrane protein 120A 12477932,16169070,10737800 83862 NM_031925,AC006330,CH471220,AF327923,BC029487,BC040694,BC051850,CR590394,CR606386,CR611494,CR614474,CX869634,DB460719 NP_114131,EAW71781,EAW71782,EAW71783,EAW71784,EAW71785,EAW71786,EAW71787,EAW71788,AAK16442,AAH29487,AAH51850,Q9BXJ8,ABM81928,ABM85106 Hs.488835 NET29|TMPIT transmembrane protein 120A|transmembrane protein induced by tumor necrosis factor alpha protein-coding 1626589 TMEM120B transmembrane protein 120B 19240061,12477932,20379614 144404 NM_001080825,AC084018,AK126568,BC035884,BC127768,BC127769,BX648084,BC069021,CR617723 NP_001074294,BAG54345,AAI27769,AAI27770,A0PK00 Hs.644504 transmembrane protein 120B protein-coding 1606775 TMEM121 transmembrane protein 121 15489334,12477932,12204283,20714865 80757 NM_025268,AL928654,BC004221 NP_079544,AAH04221,Q9BTD3 Hs.157527 MGC4659|hole OTTHUMP00000028468|hole|transmembrane protein 121 protein-coding 1605596 TMEM123 transmembrane protein 123 This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq] 9600958,11481458,16344560,16303743,15489334,15340161,12975309,12752121,12477932,11893509,9373149,16189514,8125298 114908 NM_052932,AP000942,AP001830,CH471065,CS051231,AJ293406,AK026572,AK075420,AK225790,AL050161,AL110202,AL137643,AY008283,AY157580,AY358696,BC032296,CR598031,DB146474 NP_443164,EAW67019,EAW67020,EAW67021,CAI72111,BAC11610,AAG21694,AAO13164,AAQ89059,AAH32296,Q8N131,ABM82580,ABM85768 Hs.503709 KCT3|PORIMIN|PORMIN KCT-3|keratinocytes associated transmembrane protein 3|keratinocytes-associated transmembrane protein 3|porimin|pro oncosis receptor inducing membrane injury|pro-oncosis receptor inducing membrane injury|serine/threonine-rich receptor protein-coding 1604757 TMEM125 transmembrane protein 125 15489334,12477932,8889548 128218 NM_144626,AC093420,CH471059,BC016858,BC072393,CR596327,CR596378,BI768096,BI821566,BM677938 NP_653227,EAX07110,EAX07111,AAH16858,Q96AQ2 Hs.104476 MGC17299 transmembrane protein 125 protein-coding 1604272 TMEM126A transmembrane protein 126A The TMEM126A gene encodes a mitochondrial protein of higher eukaryotes with 4 transmembrane domains and a central domain conserved with TMEM126B (Hanein et al., 2009 [PubMed 19327736]).[supplied by OMIM] 11256614,19327736,16381901,15489336,15489334,12477932,11230166,11076863,19570815,20405026,20877624 84233 NM_032273,AP000642,CH471076,AK312081,AL136941,BC007875,DB454483,NG_017157 NP_115649,EAW75102,BAG35017,CAB66875,AAH07875,Q9H061,CAL37734 Hs.533725 DKFZp586C1924|OPA7 transmembrane protein 126A protein-coding 1603632 TMEM126B transmembrane protein 126B 15489334,12477932,10931946,17903296,19570815 55863 AP000642,CH471076,AF220193,AF246240,AK291150,AK298189,BC012065,BC017574,BC038933,NM_018480,BC107900,CR612738,BF244908,BG170232,BG623309,CS072471,NM_001193537,NM_001193538,NR_036465,BG776073,DB530931 NP_060950,EAW75096,EAW75097,EAW75098,EAW75099,EAW75100,EAW75101,AAF67658,AAG44487,BAF83839,BAG60460,AAH12065,AAH17574,AAH38933,AAI07901,Q8IUX1,Q9H2Q3,ABM83211,ABM86411,CAI93609,NP_001180466,NP_001180467 Hs.525063 HT007|MGC111203 transmembrane protein 126B protein-coding 1601991 TMEM127 transmembrane protein 127 21156949,15815621,15489334,14702039,12477932,10493829,16344560,20154675,20923864 55654 NG_027695,NM_017849,AC004020,AC012307,AC021188,CH471207,AK000514,AK025910,AK293276,AL117494,AL117581,BC028575,BC039892,CR599359,DA212468,NM_001193304 NP_060319,AAC23494,AAY24224,EAW71376,EAW71377,EAW71378,EAW71379,BAA91220,BAB15279,BAG56805,AAH28575,AAH39892,O75204,Q9H6I0,NP_001180233 Hs.164303 FLJ20507|FLJ22257 transmembrane protein 127 protein-coding 1602670 TMEM128 transmembrane protein 128 15489334,14702039,12477932 85013 NM_032927,AC011744,CH471131,AK001453,AK295248,BC007729,BC091482,CR600962,CR606526,CR621378,CR933611 NP_116316,EAW82440,EAW82441,EAW82442,EAW82443,EAW82444,BAG58239,AAH07729,AAH91482,Q5BJH2,CAI45928 Hs.12845 MGC110944|MGC13159 transmembrane protein 128 protein-coding 1606992 TMEM129 transmembrane protein 129 12477932,20972438,20348956,20379614 92305 NM_138385,NM_001127266,AC016773,CH471131,AK098466,AK303880,BC009331,BC018921,BC126370,CR596458 NP_612394,NP_001120738,EAW82569,EAW82570,EAW82571,EAW82572,EAW82573,BAG64816,AAI26371,A0AVI4,ADR83363 Hs.518562 D4S2561E|FLJ25600 transmembrane protein 129 protein-coding 1605559 TMEM130 transmembrane protein 130 16381901,16344560,15489336,15489334,12975309,12690205,12477932,11256614,11230166,11076863,9373149,8125298 222865 AY358583,BC030793,BC037895,DA144530,DA154119,AL834349,NM_001134451,NM_001134450,NM_152913,AC004991,AC095044,CH236956,CH471091,AB072903,AK124634,AK225783,AK294658,AK295543,AK312364,AL832523,AL834348 CAD39014,AAQ88946,AAH30793,AAH37895,Q8N3G9,CAL37825,CAL38122,CAL38713,CAL38749,NP_001127923,NP_001127922,NP_690877,EAL23888,EAW76701,EAW76702,EAW76703,EAW76704,BAG54060,BAH11837,BAH12100,BAG35282,CAD38628,CAD39013 Hs.270753 DKFZp761L1417|FLJ42643 OTTHUMP00000205636|transmembrane protein 130 protein-coding 1606821 TMEM131 transmembrane protein 131 17081983,16964243,16344560,12477932,10996388,9039502,20379614 23505 NM_015348,AC016699,AC079337,AC092591,AK025852,AK098792,AK297450,AU132630,BC018018,BC036841,BE327511,BX647728,CR602171,D87446 NP_056163,AAX82007,BAG59874,AAH36841,BAA13387,Q0P631,Q584P2,Q92545,Q9P1A3 Hs.469376 CC28|KIAA0257|PRO1048|RW1|YR-23 2610524E03Rik|OTTHUMP00000203014|OTTHUMP00000203015|transmembrane protein 131 protein-coding 1606273 TMEM132A transmembrane protein 132A This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 16806201,14702039,12514190,12477932,12421765,11524435,10997877 54972 BC032059,BC114569,CR613429,NM_178031,AP003721,CH471076,AB046803,AK000546,AK023577,AL359557,AL834133,BC028106,NM_017870 AAH32059,AAI14570,Q24JP5,NP_060340,NP_821174,EAW73908,EAW73909,EAW73910,EAW73911,EAW73912,EAW73913,EAW73914,BAB13409,BAA91245,BAB14613,CAH10668,AAH28106 Hs.118552 DKFZp547E212|FLJ20539|GBP|HSPA5BP1|MGC138669 GRP78-binding protein|HSPA5-binding protein 1|glucose-regulated protein, 78kDa|heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1|heat shock 70kDa protein 5 binding protein 1|transmembrane protein 132A protein-coding 1606181 TMEM132B transmembrane protein 132B 14702039,12477932,11572484,11347906,20379614 114795 NM_052907,AC026370,AC073618,AC093028,CH471054,AB058689,AB067493,AK055283,AK090767,AK091512,AK093097,BC113366,BC113368,BC131621,AC005146,AC004806,CR735824 Q14DG7,NP_443139,EAW98476,EAW98477,EAW98478,BAB47415,BAB67799,BAC04053,AAI13367,AAI13369,AAI31622 Hs.524838 KIAA1786|KIAA1906 transmembrane protein 132B protein-coding 1601730 TMEM132C transmembrane protein 132C 20379614 92293 NM_001136103,AC023595,AC061709,AC090424,AC107020,AC126612,AK126715,AL122107,AL831921,AL832160 NP_001129575,BAG54364,CAH10715,CAD38581,Q8N3T6 Hs.49599 DKFZp761O2018 transmembrane protein 132C protein-coding 1606177 TMEM132D transmembrane protein 132D 20379614,12966072,19240061,14702039,12477932,11853319,19913121,20628086 121256 NM_133448,AC055717,AC079456,AC107033,AC117373,AC117501,AC125635,AC128708,AC130404,AC139767,CH471054,AB061814,AB075824,AK094656,AL833234,BC114626,BC114936 NP_597705,EAW98500,BAC97794,BAB85530,CAD38636,AAI14627,AAI14937,Q14C87 Hs.507268 KIAA1944|MGC138770|MGC138771|MOLT mature OL transmembrane protein|mature oligodendrocytes transmembrane protein|transmembrane protein 132D protein-coding 1603364 TMEM132E transmembrane protein 132E 14569139,12477932 124842 NM_207313,AC005691,BC018318,BC020591,BN000149 NP_997196,AAH18318,AAH20591,CAD80169,Q6IEE7 Hs.310482 transmembrane protein 132E protein-coding 1602316 TMEM133 transmembrane protein 133 There is evidence that this intronless gene is transcribed but the protein is predicted. The gene function is unknown. [provided by RefSeq] 15489334,12477932 83935 NM_032021,AP000872,CH471065,AF247167,AK314174,BC058024,BC093843,BC112050,CR620896 NP_114410,EAW66996,AAG44547,BAG36857,AAH93843,AAI12051,Q9H2Q1 Hs.44004 AD031|MGC138255 transmembrane protein 133 protein-coding 1604784 TMEM134 transmembrane protein 134 12477932,9110174,8619474 80194 BC013883,BC051854,BC125134,BG488634,CR601766,CR605177,DN999439,NM_025124,NM_001078651,AP003419,CH471076,AK025402,AK296988,AK303342,AK310743,AW249982,NM_001078650,AY007143 AAH13883,AAI25135,Q9H6X4,NP_001072118,NP_079400,NP_001072119,EAW74631,EAW74632,EAW74633,EAW74634,EAW74635,EAW74636,BAB15126,BAG59528,BAG64405 Hs.288761 FLJ21749|MGC149891 transmembrane protein 134 protein-coding 1603382 TMEM135 transmembrane protein 135 12477932,9915854,9373149,8125298,16344560,20379614 65084 NM_022918,AP000811,AP001102,AP002967,CH471076,AF080569,AK000684,AK024853,AK025757,AK225364,AK291804,AK296774,AK302473,AL834493,BC012553,BC030952,BC051462,BX648678,BX487598,DB325683,DB469024,NM_001168724,NR_033149 NP_075069,EAW75148,EAW75149,EAW75150,AAD16010,BAB15233,BAF84493,BAG59353,BAG63762,CAD39151,AAH12553,AAH30952,AAH51462,CAH10546,Q7Z760,Q86UB9,Q8N605,NP_001162195 Hs.188591,Hs.490745 DKFZp686I1974|FLJ22104 transmembrane protein 135 protein-coding 1603164 TMEM136 transmembrane protein 136 16344560,12477932 219902 DA097438,DA331965,NM_001198670,NM_001198671,NM_001198672,NM_001198673,NM_001198674,NM_001198675,NM_174926,AP001150,CH471065,AK128040,AK289680,AK294713,AK304086,BC015232,CR602717 NP_001185599,NP_001185600,NP_001185601,NP_001185602,NP_001185603,NP_001185604,NP_777586,EAW67505,EAW67506,BAC87244,BAF82369,BAG57865,BAG64992,AAH15232,Q6ZRR5 Hs.643516 MGC17839 transmembrane protein 136 protein-coding 1604817 TMEM138 transmembrane protein 138 14702039,12477932,11042152 51524 NM_016464,AP003108,CH471076,AF151030,AF151032,AK027724,AK303219,AK307371,BC005201,CR596588,CR598619,CR602992,CR604239,AL832879,AI097052,AI768672,BI907037,CB956757,NR_028473,FB746706 NP_057548,EAW73943,AAF36116,AAF36118,BAG64306,AAH05201,Q9NPI0,CAI46174,ABM83437,ABM86651,CAT04673 Hs.406530 HSPC196 transmembrane protein 138 protein-coding 1602298 TMEM139 transmembrane protein 139 16303743,15231748,12975309,12690205,12477932,19773279 135932 AC073342,CH236959,CH471198,AK075067,AK172816,AK315170,AY358781,BC016719,BC035517,BC035888,BC048333,NM_153345 NP_699176,EAL23784,EAW51871,EAW51872,EAW51873,EAW51874,EAW51875,BAC11382,BAD18786,BAG37612,AAQ89141,AAH16719,AAH35517,Q8IV31 Hs.17558 FLJ90586 OTTHUMP00000202123|OTTHUMP00000202124|transmembrane protein 139 protein-coding 1605364 TMEM140 transmembrane protein 140 16344560,17207965,15489334,14702039,12690205,12477932,9373149,8889548,8125298 55281 NM_018295,AC083862,CH236950,CH471070,AK001862,AK225055,AK301268,BC020942,BM512090,BU683951,CR597549,CR598469,CR603717,CR608299,CR608312,CR613329,CR623230,CR625239,DB064371 NP_060765,EAL24065,EAW83839,BAA91948,BAG62831,AAH20942,Q96FW3,Q9NV12,ADQ32793 Hs.521213 FLJ11000 transmembrane protein 140 protein-coding 1602669 TMEM141 transmembrane protein 141 15489334,15164053,12477932,8889548,16712791,17207965 85014 NM_032928,AL355987,CH471090,BC007834,BU740670,CB107060,CR613672 NP_116317,CAI12679,EAW88277,AAH07834,Q96I45,ADQ32379 Hs.356744 MGC14141|RP11-216L13.7 transmembrane protein 141 protein-coding 1602477 TMEM143 transmembrane protein 143 12975309,11256614,12477932,19913121,20628086,20877624 55260 NM_018273,AC008392,AC011514,AC020955,CH471177,AK129801,AK291521,AY358161,BC016919,BC040021,AK294408,AK297591,AK297610,AK298317,AK303635 NP_060743,EAW52335,EAW52336,EAW52337,EAW52338,BAF84210,AAQ88528,AAH16919,Q96AN5,BAG57660,BAG59978,BAG59992,BAG60570,BAG64642 Hs.351335 FLJ10922 transmembrane protein 143 protein-coding 1605072 TMEM144 transmembrane protein 144 14702039,12477932,17207965 55314 NM_018342,AC098679,CH471056,AK002017,BC026318,BC035811,BC036551,BC048117,BC050297,BC054487,BC060875 ADQ32959,NP_060812,EAX04858,EAX04859,EAX04860,EAX04861,EAX04862,BAA92037,AAH36551,AAH48117,AAH54487,AAH60875,Q7Z5S9 Hs.724693 FLJ11155 transmembrane protein 144 protein-coding 1602052 TMEM145 transmembrane protein 145 16344560,16303743,14702039 284339 NM_173633,AC024078,CH471126,CQ783419,AK075286,DA694683 NP_775904,EAW57128,EAW57129,EAW57130,CAF86623,BAC11522,Q8NBT3 Hs.382075 FLJ90805 transmembrane protein 145 protein-coding 1604493 TMEM146 transmembrane protein 146 12477932,20379614 257062 NM_152784,AK128088,BC031233,BC043005,AC011499,CH471139 NP_689997,EAW69148,EAW69149,EAW69150,AAH31233,AAH43005,Q86XM0,Q8NEF4 Hs.631842 MGC39581 OTTHUMP00000183709|transmembrane protein 146 protein-coding 1607077 TMEM147 transmembrane protein 147 14667819,16189514,15489334,12477932,20538592 10430 NM_032635,AC002389,BC001118,CR600620,CR601646,CR605779,CR607776,CR615520,CR619832,Y18007,CR603882 NP_116024,AAH01118,CAA77013,Q9BVK8 Hs.9234 MGC1936|NIFIE14 OTTHUMP00000045776|OTTHUMP00000045777|protein NIFIE 14|seven transmembrane domain protein|transmembrane protein 147 protein-coding 1605956 TMEM149 transmembrane protein 149 12477932 79713 NM_024660,AD000671,AK026226,BC031329,BC126481,BC126483,BC144205 NP_078936,BAB15400,AAH31329,AAI26484,Q9H665,AAI26482 Hs.352548 FLJ22573|U2AF1L4 U2 small nuclear RNA auxiliary factor 1-like 4|U2(RNU2) small nuclear RNA auxiliary factor 1-like 4|transmembrane protein 149 protein-coding 1317058 TMEM14A transmembrane protein 14A 1580863 17207965,15489334,14574404,12477932,16712791 28978 NM_014051,AL109918,CH471081,CS072353,AF078864,AF239771,AK312063,BC015097,BC019328,CB117714,CR618706 NP_054770,CAB92769,EAX04379,EAX04380,EAX04381,CAI93491,AAD44496,AAF59948,BAG34999,AAH15097,AAH19328,Q9Y6G1,ADQ32420 Hs.94896 C6orf73|PTD011 transmembrane protein 14A protein-coding 1344544 TMEM14B transmembrane protein 14B 1580863 16344560,15489334,12477932,17207965 81853 NM_001127711,AL024498,CH471087,AK291883,AK294152,AK311340,BC001033,BC007080,BC013913,BC071660,NM_030969,CR622176,CR623943,DA508140 NP_112231,NP_001121183,CAB75822,CAI20519,EAW55276,EAW55277,EAW55278,EAW55279,EAW55280,EAW55281,BAF84572,BAG57477,AAH01033,AAH07080,AAH13913,AAH71660,Q5THN7,Q9NUH8,ADQ31961 Hs.95600 FLJ60468|MGC1223 OTTHUMP00000214289|OTTHUMP00000214290|OTTHUMP00000214297|OTTHUMP00000214298|OTTHUMP00000214299|transmembrane protein 14B protein-coding 1313920 TMEM14C transmembrane protein 14C 737633,1580863 20877624,15489334,12958361,12477932,11042152,9373149,8125298,19656490 737633 51522 NM_016462,AL358777,CH471087,AF151028,AF164962,AK223462,AK309591,AK310191,BC002496,BC010086,CR594179,CR602451,CR608762,CR608848,CR618403,CR621789,CR625322,CR626312,CR626492,CR593270,AL702149,AV737904,CX784985,NM_001165258 NP_057546,CAI14003,EAW55271,EAW55272,EAW55273,EAW55274,EAW55275,AAF36114,AAQ13593,BAD97182,AAH02496,AAH10086,Q53F27,Q7Z2T3,Q9P0S9,ABM83488,ABM86703,NP_001158730 Hs.519557 C6orf53|HSPC194|MSTP073|NET26|bA421M1.6 transmembrane protein 14C protein-coding 1353543 TMEM14D transmembrane protein 14D 645203 AL713888,NG_023183 A8MWL7 bA524O24.3 transmembrane protein 14D pseudo 2301123 TMEM14E transmembrane protein 14E 12975309,10737800 645843 NM_001123228,AC026347,CH471052,AW866456,AY358260 NP_001116700,EAW78784,AAQ88627,Q6UXP3 Hs.632562 transmembrane protein 14-like|transmembrane protein 14E protein-coding 1605297 TMEM150A transmembrane protein 150A 16381901,15815621,15489336,15489334,14702039,12477932,11230166,11076863,10858565,17207965,16344560 129303 NM_001031738,AC016753,CH471053,CQ782434,AK074505,AK098152,AK291879,BC050466,BX647409,CR590255,CR595341,CR600054,CR614257,AW009533,DA434376,NR_033179 NP_001026908,AAY24344,EAW99496,EAW99497,EAW99498,EAW99499,EAW99500,EAW99501,EAW99502,EAW99503,CAF85721,BAC11029,BAF84568,AAH50466,Q86TG1,CAL37402,ADQ33127 Hs.591559 FLJ90024|TM6P1|TMEM150 OTTHUMP00000203094|fasting-inducible integral membrane protein TM6P1|transmembrane protein 150|transmembrane protein 150A protein-coding 2304150 TMEM150B transmembrane protein 150B 15057824,12477932,19448619 284417 NM_001085488,AC020922,CH471135,BC020862,BC171893,BC171901,BC171904 NP_001078957,EAW72362,AAI71904,A6NC51 Hs.382625 TMEM224 hCG1651476|transmembrane protein 150B|transmembrane protein 224|transmembrane protein LOC284417 protein-coding 3564030 TMEM150C transmembrane protein 150C 12477932,14702039 441027 AC067942,AK023055,AK297434,AK297512,AK299942,AK301116,BC147019,BC147027,CH471057,NM_001080506 AAI47020,AAI47028,B9EJG8,BAH12581,BAH12599,BAH13178,BAH13412,EAX05896,NP_001073975 Hs.507676 FLJ12993 OTTHUMP00000219680|OTTHUMP00000219684|transmembrane protein 150C protein-coding 1606118 TMEM151A transmembrane protein 151A 15489334,12477932,8889548 256472 AP001107,CH471076,AL834459,BC033898,BC035477,NM_153266,BU732410,DB477253,BM727563 NP_694998,EAW74510,CAD39119,AAH33898,Q8N4L1 Hs.399779 MGC33486|TMEM151 transmembrane protein 151|transmembrane protein 151A protein-coding 1350981 TMEM151B transmembrane protein 151B 14702039,12477932,8889548,7894479,19773279 441151 NM_001137560,AL139392,AL353588,AK094365,AK124502,AK126839,BE671218,BM664874,L35592 NP_001131032,CAI20104,CAI20105,CAI40748,Q8IW70 Hs.632851 C6orf137|FLJ37046|FLJ42511|FLJ44683|FLJ44891|TMEM193|bA444E17.5 transmembrane protein 151B|transmembrane protein 193 protein-coding 1603167 TMEM154 transmembrane protein 154 17207965,8889548,14702039,12477932 201799 NM_152680,BM194190,BU688947,AC106882,CH471056,AK056590,AK296694,AK309319,BC019600,BC060775 ADQ32455,NP_689893,EAX04974,EAX04975,BAB71226,BAG59288,AAH19600,AAH60775,Q6P9G4 Hs.518900 FLJ32028 transmembrane protein 154 protein-coding 1604239 TMEM155 transmembrane protein 155 15815621,15489334,14702039,16344560,12477932 132332 NM_152399,AC079341,CH471056,AK055396,AK310583,BC047657,BC059365,BI757990,CR608317,DA176165 NP_689612,AAY40967,EAX05253,EAX05254,EAX05255,BAB70915,AAH47657,Q4W5P6 Hs.27524,Hs.607691 FLJ30834 OTTHUMP00000219988|protein TMEM155 protein-coding 1605045 TMEM156 transmembrane protein 156 12477932 80008 NM_024943,AC079921,CH471069,AK026888,BC030803,BC060512 NP_079219,EAW92905,EAW92906,EAW92907,BAB15583,AAH30803,Q8N614 Hs.374147 FLJ23235 OTTHUMP00000218213|transmembrane protein 156 protein-coding 733049 TMEM158 transmembrane protein 158 Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. [provided by RefSeq] 16737913,16575872,16280139,16083501,15486950,12477932,11822868,11399754 25907 NM_015444,AC010170,CH471055,FJ695198,AB078417,AF438313,AL080235,BC057390,BQ000094,BU627971,BX401325,BX459891,CR591255,CR593631,CR615050,CR621614,HI574150 NP_056259,EAW64739,BAC05687,AAL30845,CAB45781,AAH57390,Q8WZ71,CBX47564 Hs.35861 BBP|DKFZp586E1621|RIS1|p40BBP 40 kDa BINP-binding protein|BINP receptor|OTTHUMP00000218001|Ras induced senescence 1|brain injury-derived neurotrophic peptide (BINP) binding protein|brain specific binding protein|transmembrane protein 158 protein-coding 1601747 TMEM159 transmembrane protein 159 17207965,17562024,16344560,15589683,12477932,12401792,9110174,8619474,16303743,20379614 57146 NM_020422,AC008551,AF001550,CH471228,CQ783556,AF070596,AI968069,AK074667,AK293557,AW575176,AY212918,BC015812,BX647512,CR596615,CU448562,DA893031,DB054887 ADQ33165,NP_065155,AAB67598,EAW66854,EAW66855,EAW66856,EAW66857,EAW66858,CAF86723,BAC11122,BAG57032,AAO52682,AAH15812,Q96B96 Hs.258212 PROMETHIN OTTHUMP00000162297|promethin protein-coding 1606276 TMEM160 transmembrane protein 160 15489334,14702039,12477932,20562859,20935630,19615732 54958 NM_017854,AC008755,CH471126,AK000519,BC002907 NP_060324,EAW57455,BAA91225,AAH02907,Q9NX00 Hs.105606 FLJ20512 transmembrane protein 160 protein-coding 1603037 TMEM161A transmembrane protein 161A 15604093,16551573,14702039,12975309,12477932,9373149,8125298 54929 AK096964,AK225424,AY358088,BC005210,BC016478,CR592471,CR595363,CR597925,CR600373,CR602314,CR602833,CR610030,CR610922,CR614146,CR615333,CR620031,CR623611,CR624962,NM_017814,AC002126,CH471106,AK000429 BAG53402,AAQ88455,AAH05210,AAH16478,Q9NX61,NP_060284,EAW84780,EAW84781,EAW84782,EAW84783,EAW84784,EAW84785,EAW84786,EAW84787,BAA91159 Hs.631629 AROS-29|FLJ20422|FLJ39645 transmembrane protein 161A protein-coding 1603558 TMEM161B transmembrane protein 161B 19913121,20628086,12975309,12477932 153396 NM_153354,AC010243,CH471084,AK299896,AK300006,AK300893,AK301091,AY358693,BC037287,BM479365,BX647345,BX648757,CR595175,DW443954 NP_699185,EAW95937,EAW95938,EAW95939,EAW95940,EAW95941,EAW95942,EAW95943,BAH13165,BAH13191,BAH13369,BAH13407,AAQ89056,AAH37287,CAI56713,Q8NDZ6,ABM86543,ABW03664 Hs.379972 FLB3342|MGC33214|PRO1313 OTTHUMP00000222461|OTTHUMP00000222462|transmembrane protein 161B protein-coding 1604280 TMEM163 transmembrane protein 163 17623043,15815621,15489334,14702039,12477932 81615 NM_030923,AC013718,AC093892,AC110620,CH471058,AF255647,AI307369,AK054738,AL122044,AL833765,AW131848,BC026170,BM998960,CD705559,CR594909 NP_112185,AAX93249,AAY24144,EAX11653,EAX11654,AAG44635,CAB59180,CAH10592,AAH26170,Q8TC26 Hs.369471,Hs.595089 DC29|DKFZp566N034|DKFZp666J217|FLJ30176|SV31 transmembrane protein 163 protein-coding 1604569 TMEM164 transmembrane protein 164 14702039,12477932,8889548,15772651,15489334,15342556,15146197 84187 BC071977,NM_032227,NM_017698,AL359079,AL360224,CH471120,AK000180,AK026332,AK057084,AK094127,BC002716,BC085605,BP295095,BU681952,CN349076 NP_115603,NP_060168,CAI41537,CAI41538,CAI40819,CAI40820,EAX02665,EAX02666,EAX02667,EAX02668,BAA90993,BAB15450,BAG52820,AAH85605,Q5U3C3,Q9H617,Q9NXL7 Hs.496572 FLJ20173|FLJ22679|RP13-360B22.2|bB360B22.3 OTTHUMP00000023848|transmembrane protein 164 protein-coding 1601750 TMEM165 transmembrane protein 165 16344560,15489334,14702039,12477932,10931946,3202867 55858 NM_018475,AC069200,CH471057,AF132746,AF183409,AF220188,AK026163,AK027162,AK054712,AK055076,AK290663,AK295289,BC003545,BC104978,BC104980,BC107582,CR603840,DA371259 NP_060945,EAX05467,AAL75947,AAG09678,AAF67653,BAG51414,BAF83352,BAG58273,AAH03545,AAI04979,AAI04981,AAI07583,Q9HC07 Hs.479766 TMPT27|TPARL TPA regulated locus|transmembrane protein 165|transmembrane protein PT27|transmembrane protein TPARL protein-coding 1603559 TMEM167A transmembrane protein 167A 16344560,15489334,14702039,12477932,11181995,1316117 153339 AK172803,NM_174909,AC022416,CH471084,AI799606,AK000174,AK055070,AK055612,BC026285,BC028585,BC070122,BC107575,BX647979,CR590885,CR600809,DA100343,AC104118 NP_777569,EAW95896,AAH26285,AAH28585,AAI07576,Q8TBQ9 Hs.355606 DKFZp686I1152|FLJ30508|MGC23909|TMEM167 protein kish-A|transmembrane protein 167|transmembrane protein 167A protein-coding 2881561 TMEM167AP1 transmembrane protein 167A pseudogene 1 12815422 360028 AC009489,NG_002949 pseudo 1604335 TMEM167B transmembrane protein 167B 10931946,12477932,16710414,15489334 56900 NM_020141,AL356488,CH471122,CS300507,AF164793,AK075191,AK291293,AK310192,BC008739,BC065186,BC066918,BC067116,BC146873,BC146879,BC171849 NP_064526,CAI19043,EAW56356,EAW56357,CAK32171,AAF80757,BAF83982,AAH08739,AAH65186,AAH66918,AAH67116,AAI46874,AAI46880,AAI71849,Q9NRX6 Hs.82933 AD-020|C1orf119|FLJ90710 protein kish-B|protein x 013 protein-coding 1605052 TMEM168 transmembrane protein 168 11256614,19240061,16344560,15146197,14702039,12477932,9847074 64418 NM_022484,AC079621,CH236947,CH471070,AK023638,AK025482,AK293311,AK314460,AL136626,BC030804,BX421826,CN256103,DA116574 NP_071929,AAQ96836,EAL24373,EAW83470,EAW83471,EAW83472,BAB14624,BAG56831,BAG37068,CAB66561,AAH30804,Q9H0V1 Hs.709689 DKFZp564C012|FLJ13576 OTTHUMP00000207378|OTTHUMP00000207379|OTTHUMP00000207428|OTTHUMP00000207430|transmembrane protein 168 protein-coding 1602990 TMEM169 transmembrane protein 169 16344560,15815621,15489334,14702039,12477932,20463177 92691 NM_138390,NM_001142310,NM_001142311,NM_001142312,AC010686,CH471063,AK091582,AK172731,AK313536,AW291087,BC008604,CR933667,DA392602,DA718294 NP_612399,NP_001135782,NP_001135783,NP_001135784,AAY14658,EAW70559,EAW70560,EAW70561,BAC03700,BAG36313,AAH08604,CAI45964,Q96HH4 Hs.334916 DKFZp781L2456|FLJ34263 OTTHUMP00000206782|OTTHUMP00000206785|transmembrane protein 169 protein-coding 1321545 TMEM17 transmembrane protein 17 737633 17207965,15815621,15489334,14702039,12477932 737633 200728 DR760587,NM_198276,AC093159,AC107083,CH471053,AK091902,AK124081,BC047439 ADQ32524,NP_938017,AAY24170,AAY24048,EAW99975,AAH47439,Q86X19 Hs.308028 FLJ34583 transmembrane protein 17 protein-coding 1604539 TMEM170A transmembrane protein 170A 17207965,14702039,12477932,19844255 124491 NM_145254,AC009163,CH471114,AK094930,AK298475,AK311919,AY302139,BC018082,BX647432,BX648429,BX648484 ADQ32674,NP_660297,EAW95642,EAW95643,EAW95644,BAG52958,BAG60686,BAG34860,AAP57631,AAH18082,Q8WVE7 Hs.487510 FLJ37611|TMEM170 transmembrane protein 170|transmembrane protein 170A protein-coding 2293893 TMEM170B transmembrane protein 170B 16344560 100113407 NM_001100829,AL357518 NP_001094299,CAI16364,Q5T4T1 Hs.146317 transmembrane protein 170B protein-coding 1606157 TMEM171 transmembrane protein 171 17207965,16344560,15489334,15146197,12477932,12044878 134285 NM_173490,NM_001161342,AB083614,AC116345,CH471084,BC018083,BC035310,CN261444,DB334050 ADQ32493,NP_775761,NP_001154814,BAB89327,EAW95717,EAW95718,AAH18083,AAH35310,Q8WVE6 Hs.162246 PRP2 proline-rich protein PRP2|transmembrane protein 171 protein-coding 1602274 TMEM173 transmembrane protein 173 19285439,19240791,18818105,18724357,18559423,15489334,14702039,12477932,19416887,19433799,8889548,17207965 340061 NM_198282,AC138517,CH471062,AK095896,AK129800,AK290661,BC047779,FJ222241,BM149879,BU731116 NP_938023,EAW62098,EAW62099,EAW62100,BAF83350,AAH47779,ACI46648,Q86WV6,ADQ33083 Hs.379754 ERIS|FLJ38577|MITA|MPYS|NET23|STING N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner|OTTHUMP00000223442|OTTHUMP00000223443|endoplasmic reticulum IFN stimulator|hMITA|hSTING|mediator of IRF3 activation|mitochondrial mediator of IRF3 activation|stimulator of interferon genes protein|transmembrane protein 173 protein-coding 1606156 TMEM174 transmembrane protein 174 15489334,14702039,12477932,20331980 134288 NM_153217,AC116345,CH471084,AK055830,AK315460,BC019346 NP_694949,EAW95719,EAW95720,BAB71025,BAG37847,AAH19346,Q8WUU8 Hs.508588 FLJ31268|MGC13034 transmembrane protein 174 protein-coding 1604263 TMEM175 transmembrane protein 175 15489334,14702039,12477932 84286 NM_032326,AC019103,CH471131,AK090848,AK309132,AL834199,BC005158,BC047738,BC063488,BC095416,BC118552,CR599425,CR617696,CR619221,CR619330,CR622533 NP_115702,EAW82633,EAW82634,EAW82635,EAW82636,EAW82637,EAW82638,EAW82639,EAW82640,EAW82641,EAW82642,EAW82643,BAG52239,CAD38888,AAH05158,Q9BSA9,ABM83841,ABM87163 Hs.478936 MGC4618 OTTHUMP00000217332|OTTHUMP00000217338|OTTHUMP00000217340|transmembrane protein 175 protein-coding 1602320 TMEM176A transmembrane protein 176A 15489334,14702039,12853948,12690205,12477932,12097419,11967007,8889548 55365 NM_018487,AACC02000108,AC006479,CH471173,AF258340,AK123468,BC008303,BM663079,CR597401,CR609068,CR610177,CR610583,CR618934 NP_060957,EAL24489,AAP21884,EAW54088,EAW54089,EAW54090,EAW54091,AAF68667,AAH08303,Q96HP8 Hs.647116 GS188|HCA112 OTTHUMP00000212628|OTTHUMP00000212630|hepatocellular carcinoma-associated antigen 112|likley ortholog of mouse GS188|transmembrane protein 176A protein-coding 1606306 TMEM176B transmembrane protein 176B 9922225,16095493,15489334,15342556,14702039,12477932,11967007,17207965 28959 R95048,NM_014020,NM_001101314,NM_001101312,NM_001101311,AACC02000108,AC006479,CH471173,AF115384,AK000841,AK097304,AK129525,AK315575,BC004358,BC014586,BC091471,BF511290,BI759037,BI761752,BI910761,BP298052,CR608087,CR610447,DQ144974 AAZ75648,Q3YBM2,NP_054739,NP_001094784,NP_001094782,NP_001094781,EAL24488,EAW54076,EAW54077,EAW54078,EAW54079,EAW54080,AAD23440,BAG53450,BAG37949,AAH04358,AAH14586,AAH91471,ADQ31874 Hs.647090,Hs.709505 FLJ26014|LR8|MGC110857 LR8-like protein|OTTHUMP00000212297|OTTHUMP00000212299|transmembrane protein 176B protein-coding 1606772 TMEM177 transmembrane protein 177 15815621,15489334,15146197,14702039,12477932,17207965 80775 NM_001105198,NM_030577,NM_001105199,AC069154,CH471103,AA243057,AK096890,AK130088,AK299078,AK308503,AW027286,BC004404,BG280893,BG776153,CN258689 NP_001098668,NP_085054,NP_001098669,AAY24148,EAW95225,EAW95226,EAW95227,EAW95228,BAG53392,BAG61144,AAH04404,Q53S58,ADQ32290 Hs.439991 MGC10993 OTTHUMP00000203671|transmembrane protein 177 protein-coding 1602302 TMEM178 transmembrane protein 178 16344560,16303743,12975309,12477932,20932654 130733 BI757636,CS051257,DA062982,DN993805,NM_001167959,NM_152390,AC007246,CH471053,AK075440,AY358773,BC029530,CR597741,CR617129 CAI72124,NP_001161431,NP_689603,AAX93064,EAX00343,EAX00344,BAC11622,AAQ89133,AAH29530,Q8NBL3,ABM81922 Hs.40808 MGC33926 transmembrane protein 178 protein-coding 1346739 TMEM179 transmembrane protein 179 14702039,12508121 388021 NM_207379,BX927359,CH471061,AK124477 NP_997262,EAW81867,EAW81868,EAW81869,BAC85860,Q6ZVK1,AAI46361,AAI48845 Hs.655004 C14orf90|FLJ42486|TMEM179A chromosome 14 open reading frame 90|transmembrane protein 179|transmembrane protein 179A protein-coding 1601691 TMEM179B transmembrane protein 179B 12477932,11053263,8889548 374395 NM_199337,AP001160,CH471076,BC051355,BE439533,BM684628 NP_955369,EAW74098,EAW74099,EAW74100,AAH51355,Q7Z7N9 Hs.381134 transmembrane protein 179B protein-coding 1344776 TMEM18 transmembrane protein 18 737633 20712903,20724581,20725061,20816152,20816195,19240061,19164386,19079261,19079260,18559506,12477932,20628085,20571754,19692490,19746409,19812171,19851340,19910938,20215397,20380707,20386550,20421936,20520848,20935630,17207965,21102462 737633 129787 NM_152834,AC092159,CH471053,AK125009,AL137269,BC016010,BC032379,BC040373,CR618405 NP_690047,AAY14770,EAX01097,EAX01098,EAX01099,EAX01100,EAX01101,CAB70668,AAH16010,AAH32379,Q96B42,ADQ31703 Hs.43899 DKFZp434C1714 transmembrane protein 18 protein-coding 1319594 TMEM180 transmembrane protein 180 737633 15489334,15164054,14702039,12975309,12477932 737633 79847 NM_024789,AL121928,CH471066,AK026182,AK296583,AK301612,AY358808,BC057787,BC067530,BC067531,BC113589,BG830198 NP_079065,CAI12524,EAW49689,BAB15385,BAG59203,BAG63098,AAQ89168,AAH57787,AAH67530,AAH67531,AAI13590,Q14CX5,Q6UWF4,ADR83056 Hs.309069 C10orf77|FLJ22529|RP11-18I14.8|bA18I14.8 chromosome 10 open reading frame 77|transmembrane protein 180 protein-coding 1350892 TMEM181 transmembrane protein 181 1580863 17081983,16452613,15790807,14574404,12477932,10718198,19349973,19965467 57583 NM_020823,AL590242,AL591025,AB037844,AJ420476,AJ420523,AL359569,AY927471,AY927472,BC033450,BC044210,BC046100,BC058328,BC067769,BC092402,BC108681 NP_065874,CAH70179,BAA92661,AAH33450,Q8N4V6,Q9P2C4 Hs.99145 GPR178|KIAA1423 G protein-coupled receptor 178|transmembrane protein 181 protein-coding 1604752 TMEM182 transmembrane protein 182 14702039,12975309,12477932 130827 AC007251,NM_144632,CH471127,AK054856,AK129862,AL832688,AY358262,BC020898,BC073844,BC107694,BC130306,BC130308,CR936731,CR936732,CR936735 AAY14911,NP_653233,EAX01785,EAX01786,BAB70815,BAC85244,AAQ88629,AAH20898,AAH73844,AAI07695,AAI30307,AAI30309,Q6ZP80,ADR82867 Hs.436203 DKFZp779G1758|DKFZp779K1556|DKFZp779M1870|FLJ30294 OTTHUMP00000203111|transmembrane protein 182 protein-coding 1320480 TMEM183A transmembrane protein 183A 17613536,16644869,15489334,12477932,9110174,8619474,19536175,17207965 92703 NM_138391,AC096632,CH471067,AF070537,AK291426,AK309745,AK312985,AL133052,BC013073,BC038952,BC067775,BC150647,CR591161,CR597961,CR604212,CR609677,CR615855,CR617405,CR617512 NP_612400,EAW91456,EAW91457,EAW91458,BAF84115,BAG35822,AAH13073,AAH38952,AAH67775,AAI50648,Q8IXX5,ADQ32724 Hs.497443 C1orf37 chromosome 1 open reading frame 37|transmembrane protein 183A protein-coding 1604123 TMEM183B transmembrane protein 183B This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequenct research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq] 16644869 653659 NM_001079809,AC117395,CH471052,DQ186292,DQ186293,DQ186294,DQ186295,DQ186296,DQ186297,DQ186298,DQ186299,DQ186300,DQ186301,DQ186302,DQ186303,DQ186304,DQ186305,DQ186306,DQ186307,DQ186342,DQ186343,DQ186344,DQ186345,DQ186346,DQ186347,DQ186348,DQ186349,DQ186350,DQ186351,DQ186352,DQ186353,DQ186354,DQ186355,DQ186356,DQ186357,DQ186358,DQ186359,DQ186360,DQ186361,DQ186362,DQ186363,DQ186364,DQ186365,DQ186366,DQ186341,DQ186367,DQ186368,DQ186369,DQ186308,DQ186309,DQ186310,DQ186311,DQ186312,DQ186313,DQ186314,DQ186315,DQ186316,DQ186317,DQ186318,DQ186319,DQ186320,DQ186321,DQ186322,DQ186323,DQ186324,DQ186325,DQ186326,DQ186327,DQ186328,DQ186329,DQ186330,DQ186331,DQ186332,DQ186333,DQ186334,DQ186335,DQ186336,DQ186337,DQ186338,DQ186339,DQ186340,DQ186370,DQ186371,DQ186372,DQ186373,DQ186374,DQ186375,DQ186376,DQ186377,DQ186378,DQ186379,DQ186380,DQ186381,DQ186382,DQ186383,DQ186384,DQ186385,DQ186386,DQ186387,DQ186388,DQ186389,DQ186390,DQ186391,DQ186392,DQ186393,DQ186394,DQ186395,DQ186396,DQ186410,DQ186411,DQ186412,DQ186413,AK297222,DQ186397,DQ186398,DQ186399,DQ186400,DQ186401,DQ186402,DQ186403,DQ186404,DQ186405,DQ186406,DQ186407,DQ186408,DQ186409 NP_001073277,EAW78847,ABA18877,ABA18878,ABA18879,ABA18880,ABA18881,ABA18882,ABA18883,ABA18884,ABA18885,ABA18886,ABA18887,ABA18888,ABA18889,ABA18890,ABA18891,ABA18892,ABA18926,ABA18927,ABA18928,ABA18929,ABA18930,ABA18931,ABA18932,ABA18933,ABA18934,ABA18935,ABA18936,ABA18937,ABA18938,ABA18939,ABA18940,ABA18941,ABA18942,ABA18943,ABA18944,ABA18945,ABA18946,ABA18947,ABA18948,ABA18949,ABA18950,ABA18951,ABA18952,ABA18953,ABA18893,ABA18894,ABA18895,ABA18896,ABA18897,ABA18898,ABA18899,ABA18900,ABA18901,ABA18902,ABA18903,ABA18904,ABA18905,ABA18906,ABA18907,ABA18908,ABA18909,ABA18910,ABA18911,ABA18912,ABA18913,ABA18914,ABA18915,ABA18916,ABA18917,ABA18918,ABA18919,ABA18920,ABA18921,ABA18922,ABA18923,ABA18924,ABA18925,ABA18955,ABA18956,ABA18957,ABA18958,ABA18959,ABA18960,ABA18961,ABA18962,ABA18963,ABA18954,ABA18964,ABA18965,ABA18966,ABA18967,ABA18968,ABA18969,ABA18970,ABA18971,ABA18972,ABA18973,ABA18974,ABA18975,ABA18976,ABA18977,ABA18978,ABA18979,ABA18980,ABA18981,ABA18994,ABA18995,ABA18996,ABA18997,ABA18998,BAG59705,Q1AE95,ABA18982,ABA18983,ABA18984,ABA18985,ABA18986,ABA18987,ABA18988,ABA18989,ABA18990,ABA18991,ABA18992,ABA18993 Hs.652908 C1orf37-DUP transmembrane protein 183B protein-coding 1603256 TMEM184A transmembrane protein 184A 16344560,14702039,12690205,12477932,8889548 202915 CR625853,DB215831,CH236953,NM_001097620,AC093734,CH471144,AK075043,AK096790,AK096817,AK126312,AK172850,AK313249,BC026694,BM981655 Q6ZMB5,NP_001091089,EAW87210,EAW87211,BAC86522,BAD18814,AAH26694 Hs.592174,Hs.707784 FLJ24011|MGC9712 OTTHUMP00000200045|transmembrane protein 184A protein-coding 1315295 TMEM184B transmembrane protein 184B 12477932,17081983,16303743,15489334,15461802,14702039,12761501,10591208 25829 AL020993,AL021977,CH471095,AB097053,AK075417,AK095109,AK292652,AK309071,AL096879,AL117649,BC012983,BC015489,BE243327,BX648345,CR456413,CR627445,CR749859,NM_012264,BI197128,BQ004586,NM_001195071,NM_001195072 NP_036396,CAI21955,CAQ10209,CAI17981,EAW60222,EAW60223,EAW60224,EAW60225,EAW60226,BAC77406,BAC11607,BAF85341,CAB51403,AAH15489,CAH56159,CAG30299,CAH10529,Q6AHY5,Q9Y519,CAK54404,CAK54703,NP_001182000,NP_001182001 Hs.724441 C22orf5|DKFZp586A1024|DKFZp686F07174|DKFZp686N1150|FM08|HS5O6A putative MAPK-activating protein FM08|transmembrane protein 184B protein-coding 1349593 TMEM184C transmembrane protein 184C 737633 17072649,16344560,14702039,12477932,11483580,8889548 737633 55751 NM_018241,AC093835,CH471056,AF305823,AK000169,AK001708,BC008120,BC046128,BM712423,CR612482,DA018837 NP_060711,EAX05015,EAX05016,AAK55526,BAA90988,BAA91851,AAH08120,AAH46128,Q9NVA4 Hs.203896 FLJ10846|TMEM34 OTTHUMP00000220096|transmembrane protein 184C|transmembrane protein 34 protein-coding 1347995 TMEM185A transmembrane protein 185A 1580863 15525354,15489334,14702039,12477932,12404111,12806492,7874164,7881407,8499907,8844091,8844097,9415475 84548 NG_016831,NM_032508,AC016940,CH471169,AF353675,AF530473,AK096308,AK097391,AK128688,BC013793,BC022405,BC103820,BC103821,BC103822,AC231844,AC233288,AK297335,BJ989805,L35600,NM_001174092 NP_115897,EAW99367,EAW99368,EAW99369,AAK39521,AAM94598,BAG53255,BAC05031,BAG54711,AAH13793,AAH22405,AAI03821,AAI03822,AAI03823,Q3MI96,Q8NFB2,Q8TCB3,BAH12552,NP_001167563 Hs.522172 CXorf13|FAM11A|FRAXF|MGC118844|MGC118845 ee3|family with sequence similarity 11, member A|family with sequence similarity 11, member a|fragile site, folic acid type, rare, fra(X)(q28) F|transmembrane protein 185A protein-coding 1625808 TMEM185AL transmembrane protein 185A-like 548322 AC016939 FAM11C family with sequence similarity 11, member C|transmembrane protein 185A-like protein-coding 1345380 TMEM185B transmembrane protein 185B (pseudogene) 1580863 15525354,15489334,14702039,12477932,12404111 79134 NR_000034,AC012363,AF530474,AK024632,BC016849,BC080607,CR595954,CR626230 AAY14799,Q9H7F4 Hs.376722 FAM11B|FLJ20979 pseudo 1604027 TMEM186 transmembrane protein 186 9373149,11256614,14702039,12477932,11230166,8125298,20877624 25880 NM_015421,AC012173,CH471112,AK093383,AK225638,AK314404,AL080088,BC015912,BG682191,CA433910,CR603758 NP_056236,EAW85205,EAW85206,BAG37027,CAB45703,AAH15912,Q96B77 Hs.513330 C16orf51|DKFZp564K2062 transmembrane protein 186 protein-coding 1354491 TMEM187 transmembrane protein 187 17567994,12477932,11256614,15489334,8786131,8661027 8269 DQ655925,NG_021222,NM_003492,CH471172,CQ834240,AI355489,AK314938,BC008203,BC017026,CR457047,CR598778,CR598856,CR613909,CR614641,X92475,HI574288 NP_003483,EAW72766,CAH05335,BAG37444,AAH08203,AAH17026,CAG33328,CAA63213,Q14656,CBX47633 Hs.23119 CXorf12|DXS9878E|FLJ95849|ITBA1 OTTHUMP00000081767|OTTHUMP00000174622|chromosome x open reading frame 12|transmembrane protein 187 protein-coding 1603875 TMEM188 transmembrane protein 188 14702039,12477932 255919 NM_153261,AC007610,CH471092,AF086322,AK095420,AK301610,AK307132,AK307309,BC022550,BC036683,CR933600,FJ516381 NP_694993,EAW82738,EAW82739,EAW82740,EAW82741,BAC04545,BAG63096,AAH22550,AAH36683,CAI45924,ACL36922,Q8N9A8 Hs.726465 C16orf69|DKFZp313D2416|FLJ38101|TMP125 transmembrane protein 188 protein-coding 1603242 TMEM189 transmembrane protein 189 Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 16129784,14702039,12477932,11280764,11076860,11076848,21048031 387521 NM_199129,NM_001162505,NR_027889,AL034423,CQ834902,AB044550,AF155120,AK023028,AK304595,BC018893,BC142966,BC144612,CR590901,CR591292,CR596657,CR601155,CR607429,CR614759 NP_954580,NP_001155977,CAI19384,CAH05666,BAB18652,AAF08702,BAB14364,BAG65381,AAI42967,A5PLL7,Q5TGE2,AAI40090,AAI43092 Hs.696710,Hs.727525 KUA|UBE2V1 transmembrane protein 189|ubiquitin-conjugating enzyme E2 variant 1 protein-coding 1603241 TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough transcript The TMEM189-UEV mRNA is an infrequent but naturally occurring co-transcribed product of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this co-transcribed mRNA and the function of its protein product has not yet been determined. [provided by RefSeq] 20677014,20967262,16236267,14702039,11076860,11076848,11057907,10089880,9771976,9705497,9418904,9305758,8889548 387522 NM_199203,AL034423,AK023028,BF982644,BG723381,BI838424,BM556348,BQ010001,BQ223768,BU156219,BU619725,BU860198,CF145300,CR738799,U39361 NP_954673,CAB76864,BAB14364,AAB72016,AAI72339 Hs.727525 CROC-1B|CROC1B|KUA-UEV|UBE2V1 TMEM189-UBE2V1 fusion protein|TMEM189-UBE2V1 readthrough transcript|transmembrane protein 189-ubiquitin-conjugating enzyme E2 variant 1 read-through|ubiquitin-conjugating enzyme E2 variant 1 protein-coding 1351529 TMEM19 transmembrane protein 19 737633 16189514,14702039,12477932,9373149 737633 55266 NM_018279,AC073612,CH471054,AK001798,AK025839,AK223148,AK315587,BC008596 NP_060749,EAW97266,EAW97267,EAW97268,EAW97269,BAA91918,BAD96868,BAG37959,AAH08596,Q96HH6 Hs.644802 FLJ10936 transmembrane protein 19 protein-coding 1604743 TMEM190 transmembrane protein 190 12477932 147744 NM_139172,AC020922,CH471135,AF442729,BC128189,BC128190 NP_631911,EAW72372,AAL35294,AAI28190,AAI28191,Q8WZ59 Hs.590943 MDAC1|MGC149301|MGC149302 transmembrane protein 190 protein-coding 2303481 TMEM191A transmembrane protein 191A 15461802,12477932,11230166,11181995 84222 NR_026815,AC007050,CH878607,CH891377,AK313335,AL136879,BC126323,BC126325,CR456359 EAW50622,EAW50623,EAW50624,EAW50625,EAW50626,EAW50627,EAW50847,BAG36139,CAB66813,CAG30245,Q9H0A3 Hs.546454 DKFZp434G1017|DKFZp434N035|MGC161601|MGC161603 miscrna 1641967 TMEM191B transmembrane protein 191B 14702039,10591208 728229 XM_001128423,AC023490,AK093171,XM_003119843,XM_003119844,XM_003119845,XM_003121003,XM_003121004,XM_003121005,XM_003121006,XM_003121007 XP_001128423,P0C7N4,XP_003119891,XP_003119892,XP_003119893,XP_003121051,XP_003121052,XP_003121053,XP_003121054,XP_003121055 Hs.376511 transmembrane protein 191B protein-coding 1641960 TMEM191C transmembrane protein 191C 14702039 645426 AP000557,AK094309,AK094490,AK308704,XM_003118823,XM_003118820 A6NGB0,XP_003118871,XP_003118868 Hs.645547 FLJ36990 transmembrane protein 191C protein-coding 1602829 TMEM192 transmembrane protein 192 14702039,12477932,7566098,17207965,18029348,20370317 201931 NM_001100389,AC055120,AC108465,CH471056,AA346826,AK095801,AW137472,BC036301,BX538029,BX648915,CR590819,CR619656,HH957993,HH957995 NP_001093859,EAX04826,BAC04628,AAH36301,CAD97974,Q8IY95,ADQ31590,CBX51260,CBX51261 Hs.704511 FLJ38482 OTTHUMP00000219950|transmembrane protein 192 protein-coding 1603697 TMEM194A transmembrane protein 194A 16344560,15489334,12477932,12168954,9179496 23306 DA724501,DB123768,NM_015257,AC023237,AC026120,CH471054,AB006624,AK294566,AL833310,AL833311,BC071597,BC117436,BC126300,BC144029,BQ001525,CR607517,CR749406,NM_001130963 NP_001124435,NP_056072,EAW96984,EAW96985,EAW96986,BAA22955,BAG57761,AAH71597,AAI17437,AAI26301,CAH18250,O14524,ADR82977 Hs.591040 DKFZp686N1768|KIAA0286|TMEM194 transmembrane protein 194|transmembrane protein 194A protein-coding 2293905 TMEM194B transmembrane protein 194B 15815621,11181995 100131211 NM_001142645,AC093388,CH471058,AK296987,AK302425 NP_001136117,EAX10866,BAH12468,BAG63728,A6NFY4 Hs.659824 UPF0571 transmembrane protein|transmembrane protein 194B protein-coding 1606863 TMEM195 transmembrane protein 195 20571754,20613766,20081858,20419449,12690205,12477932,20643956 392636 NM_001004320,AC004452,AC012061,AC091789,AC099412,AC099651,CH236948,CH471073,AK131284,BC108676 NP_001004320,EAL24290,EAL24291,EAW93665,BAD18458,AAI08677,Q6ZNB7 Hs.670634 FLJ16237|MGC131748 alkylglycerol monooxygenase|transmembrane protein 195 protein-coding 1606932 TMEM196 transmembrane protein 196 12477932,17903292 256130 NM_152774,AC004543,CH236948,CH471073,BC030104,BX647256,BX648384,DN991960 NP_689987,EAW93715,EAW93716,EAW93717,AAH30104,CAI46055,Q5HYL7 Hs.487670 DKFZp686H19205|DKFZp686K0753|MGC42090 OTTHUMP00000201844|transmembrane protein 196 protein-coding 1605296 TMEM198 transmembrane protein 198 12477932,17207965 130612 NM_001005209,AC009955,CH471063,AK123175,AK302369,BC068567,BC080573,CR592699,CR596918,CR597020 NP_001005209,EAW70771,EAW70772,EAW70773,BAG53876,BAG63691,AAH80573,Q66K66,ADQ32004 Hs.446664 FLJ41180|MGC99813 OTTHUMP00000065225|transmembrane protein 198 protein-coding 1348837 TMEM199 transmembrane protein 199 15489334,12477932,9373149 147007 NM_152464,AC002094,CH471159,AK223584,AK291475,AK293909,AK311363,AY074907,BC033113 NP_689677,EAW51079,EAW51080,BAD97304,BAF84164,BAG57294,AAO12163,AAH33113,Q53EQ5,Q8N511 Hs.707906 C17orf32|MGC45714 OTTHUMP00000219928|transmembrane protein 199 protein-coding 1317427 TMEM2 transmembrane protein 2 20379614,16344560,14702039,12477932,10718198,10767548 23670 NM_013390,AL161732,AL671309,CH471089,AB037833,AF137030,AK027818,AK075370,AK300405,NM_001135820,BC044850,BC140773,BC144510,BC146780,BC171782,CA418327,CR990222,DA865249,AK303765 NP_001129292,NP_037522,CAI15172,CAI15173,CAI15174,CAI15175,CAI15176,EAW62517,EAW62518,EAW62519,EAW62520,BAA92650,AAF21348,BAG51381,BAC11574,BAG62135,BAG64731,AAI40774,AAI46781,Q9UHN6 Hs.494146 transmembrane protein 2 protein-coding 1354059 TMEM20 transmembrane protein 20 737633 15489334,15164054,14702039,12477932 737633 159371 NM_153226,NM_001134658,AL138923,CH471066,AK091309,BC036382,BC041432,BC047102,BC104814,BC143284 NP_694958,NP_001128130,CAH73399,EAW50046,EAW50047,EAW50048,EAW50049,BAC03633,AAH41432,AAI04815,AAI43285,Q2M3R5 Hs.632085 C10orf60|FLJ33990 transmembrane protein 20 protein-coding 1345256 TMEM200A transmembrane protein 200A 737633 15722956,12477932,11572484 737633 114801 NM_052913,AL137251,CH471051,AB052099,AB067500,AK290166,AK315824,BC044246 NP_443145,CAI19564,EAW48068,BAD05135,BAB67806,BAF82855,BAF98715,AAH44246,Q86VY9 Hs.591341 KIAA1913|TTMA|TTMC found in a patient with schizophrenia|transmembrane protein 200A|two transmembrane C protein-coding 1606080 TMEM200B transmembrane protein 200B 15722956,12477932 399474 AI367819,NM_001171868,NM_001003682,AL357500,AL110282,BC033289,BC064375,BC064538,BC082989,BC110336 NP_001165339,NP_001003682,CAH10727,AAH64375,AAH64538,AAH82989,AAI10337,Q69YZ2 Hs.712722 MGC102864|MGC90489|TTMB transmembrane protein 200B|transmembrane protein TTMA|two transmembrane B|two transmembrane domain-containing family member B protein-coding 3302319 TMEM200C transmembrane protein 200C 15722956,16177791 645369 AP005433,BK005124,NM_001080209 A6NKL6,AAI69201,DAA05326,NP_001073678 Hs.346566 TTMA transmembrane protein 200C|transmembrane protein TTMA|two transmembrane domain family member A|two transmembrane domain-containing family member A protein-coding 1604210 TMEM201 transmembrane protein 201 19494128,16344560,12477932 199953 AI685174,BG828926,NM_001130924,NM_001010866,AL954705,BC121187,BC137291,BE676679,BX648377,CR626314,DA603558 NP_001124396,NP_001010866,CAI17268,CAI17269,CAI17270,AAI37292,Q5SNT1,Q5SNT2,AAI21188 Hs.632365,Hs.706017 NET5|RP13-15M17.2 OTTHUMP00000063148|spindle-associated membrane protein 1|transmembrane protein 201 protein-coding 2289768 TMEM202 transmembrane protein 202 338949 NM_001080462,AC009690,AC079322,AK131033 A6NGA9,NP_001073931 Hs.446069 FLJ27523 transmembrane protein 202 protein-coding 1605598 TMEM203 transmembrane protein 203 12477932,19615732 94107 NM_053045,AL929554,CH471090,AF529372,BC009283,BC009461,BC067786,CS488888 NP_444273,EAW88365,AAQ09606,AAH09283,AAH09461,AAH67786,Q7Z4H1,Q969S6,CAH72885,CAM55962 Hs.726301 HBEBP1|MGC14327|MGC15961 HBeAg-binding protein 1|transmembrane protein 203 protein-coding 1350691 TMEM204 transmembrane protein 204 C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM] 14702039,12975309,15489334,15206924,12477932,12136098,11157797 79652 NM_024600,AE006467,AJ323237,AL031719,CH471112,AK024551,AY358178,AY676494,BC004932,BC020425,BC105785 NP_078876,AAK61286,EAW85645,EAW85646,BAB14926,AAQ88545,AAT78423,AAH04932,AAI05786,Q9BSN7 Hs.459652 C16orf30|CLP24|FLJ20898|MGC111564 chromosome 16 open reading frame 30|claudin-like protein 24|transmembrane protein 204 protein-coding 1605798 TMEM205 transmembrane protein 205 17207965,20589834,12975309,12477932 374882 NM_198536,NM_001145416,NM_033408,AC024575,CH471106,AK127147,AK291979,AY358949,BC008365,BC064948,BC071616,BC091472,BE889078,CR615959,CR623218 ADQ32606,NP_940938,NP_001138888,NP_212133,EAW84191,EAW84193,EAW84194,EAW84195,EAW84196,EAW84197,BAC86852,BAF84668,AAQ89308,AAH64948,AAH91472,Q6UW68,Q6ZSU4,EAW84192 Hs.8036 MGC110858|MGC3205|UNQ501 MBC3205|transmembrane protein 205 protein-coding 1602479 TMEM206 transmembrane protein 206 17207965,16710414,15489334,14702039,12477932 55248 NM_001198862,NM_018252,AC092803,AL360091,CH471100,AK001736,AK024066,AK295224,BC006320,CR457268,DC411913,AK297200 NP_001185791,ADQ32681,NP_060722,CAH73228,EAW93390,EAW93391,BAA91870,BAB14810,BAG58217,AAH06320,CAG33549,Q9H813,BAH12522 Hs.445386 C1orf75|FLJ10874|RP11-384C4.5 transmembrane protein 206 protein-coding 1602436 TMEM207 transmembrane protein 207 17207965,12975309,12477932 131920 NM_207316,AC009520,CH471052,AY358607,BC071780 ADQ32001,NP_997199,EAW78105,AAQ88970,AAH71780,Q6UWW9 Hs.335321 UNQ846 SRSR846|transmembrane protein 207 protein-coding 1605689 TMEM208 transmembrane protein 208 12477932,11042152 29100 AC040160,CH471092,AF161519,NM_014187,BC003080,BC013412,BC021109,BF316569,BI838179,CR606454 EAW83105,EAW83106,EAW83107,EAW83108,NP_054906,AAF29134,AAH03080,AAH13412,AAH21109,Q9BTX3,ABM83497,ABM86572,ABM86712 Hs.433203 HSPC171 transmembrane protein 208 protein-coding 1605919 TMEM209 transmembrane protein 209 16344560,14962666,14702039,12958361,12477932 84928 NM_032842,AC087071,CH236950,CH471070,CS300556,AI589217,AK027678,AK027709,AK074732,BC016721,BC045618,BC057784,BU177118,DB021198 NP_116231,EAL24094,EAW83748,EAW83749,CAK32220,BAB55289,BAB55314,BAC11168,AAH45618,AAH57784,Q96SK2 Hs.267245 FLJ14803|NET31 OTTHUMP00000212344|OTTHUMP00000212345|transmembrane protein 209 protein-coding 2292188 TMEM210 transmembrane protein 210 15164053 100128315 XM_001715022,XM_001717786,XM_001716293,AL929554 XP_001715074,XP_001717838,XP_001716345,A6NLX4 transmembrane protein 210 protein-coding 1605555 TMEM211 transmembrane protein 211 15461802,12477932,20379614 255349 NM_001001663,AL050312,CH471095,BC130647,BC130649,CR456388 NP_001001663,CAI17239,EAW59682,AAI30648,AAI30650,CAG30274,Q6ICI0,ADR82809 Hs.329040 MGC163519|MGC163521|bA9F11.1 OTTHUMP00000198495|transmembrane protein 211 protein-coding 2300031 TMEM212 transmembrane protein 212 16641997,16344560,14702039,20889312 389177 NM_001164436,AC055714,AK026825,DB199311 NP_001157908,A6NML5 Hs.642307 FLJ23172 OTTHUMP00000210842|OTTHUMP00000210899|transmembrane protein 212 protein-coding 2293900 TMEM213 transmembrane protein 213 16344560,14702039,12477932 155006 NM_001085429,AC018663,CH236950,CH471070,AI672404,AK055760,AK055841,AW771283,BC058028,BC131697,DA626421 NP_001078898,EAL24042,EAW83898,AAI31698,A2RRL7 Hs.567729 OTTHUMP00000211647|transmembrane protein 213 protein-coding 1606543 TMEM214 transmembrane protein 214 15231747,14702039,12477932 54867 CF994632,CR616624,BC068479,NM_017727,NM_001083590,AC013472,CH471053,CQ834796,AA460659,AF289555,AK000261,AK074981,AK097001,AK097308,AK296575,AK297150,AK315359,AL833725,AL834157,BC002467 AAH68479,Q6NUQ4,Q8N3H6,NP_060197,NP_001077059,AAY14654,EAX00654,EAX00655,EAX00656,EAX00657,EAX00658,EAX00659,CAH05613,AAL55739,BAA91038,BAC11331,BAG53451,BAG59195,BAG59649,BAG37754,CAH10591,CAD38863,AAH02467 Hs.533934 FLJ20254|FLJ39682 OTTHUMP00000200919|transmembrane protein 214 protein-coding 1601903 TMEM215 transmembrane protein 215 8889548 401498 NM_212558,AL157884,CH471071,AK125320,BM681172,BX647550,CR749589 NP_997723,CAH74030,EAW58538,EAW58539,BAC86126,CAH56136,CAH18388,Q68D42 Hs.522063 DKFZp686I2292|FLJ43330 transmembrane protein 215 protein-coding 1602714 TMEM216 transmembrane protein 216 12477932,11042152,16169070,9758620,20036350,20512146,12908130,12917796,8889549,21068128 51259 NM_016499,AP003108,CH471076,AF151078,AI434503,AK303687,BC011010,BG759319,CR457166,CR622592,NM_001173990,NM_001173991,AA022661,DN998400 NP_057583,EAW73944,AAF36164,BAH14017,AAH11010,CAG33447,Q9P0N5,NP_001167461,NP_001167462 Hs.26745 CORS2|HSPC244|JBTS2|JBTSB|MGC13379|MKS2 HSPC244|Meckel syndrome, type 2|cerebello-oculo-renal syndrome 2|transmembrane protein 216 protein-coding 1343464 TMEM217 transmembrane protein 217 19204726,15489334,14702039,14574404,12477932,221468 221468 NM_145316,NM_001162900,AL353579,CH471081,AK098666,AW137001,BC009625,BC026012,BC029657,BG285024,DB458508 NP_660359,NP_001156372,CAI20317,EAX03936,EAX03937,BAC05371,AAH26012,AAH29657,Q8N0U3,Q8N7C4 Hs.520101,Hs.721453 C6orf128|dJ355M6.2 transmembrane protein 217 protein-coding 2293899 TMEM218 transmembrane protein 218 14702039,12477932 219854 BC144276,BC144277,CR593246,CR607861,CR626017,NM_001080546,AP001007,CH471065,AK091324,AL833215,BC132716,BC132718,BC144270 AAI44271,AAI44277,AAI44278,A2RU14,ADR82806,NP_001074015,EAW67624,EAW67625,AAI32717,AAI32719 Hs.7626 DKFZp667A247 transmembrane protein 218 protein-coding 1604542 TMEM219 transmembrane protein 219 12477932,20353938 124446 NM_001083613,NM_194280,AC093512,AC120114,CH471238,BC017488,BC031217,BC050051,BF724791,BU857546,CF453990,CR602452,CR612117,CR617113,CR623332,CR625007,DB506492,FJ748884 NP_001077082,NP_919256,EAW79966,EAW79967,EAW79968,AAH17488,AAH50051,Q86XT9,ACQ72822 Hs.460574 insulin-like growth factor binding protein-3 receptor|transmembrane protein 219 protein-coding 1314532 TMEM22 transmembrane protein 22 737633,1580863 11256614,19148500,17081983,16381901,15489336,15489334,12477932,11230166,11076863,16712791,16169070,20237496 737633 80723 NM_025246,NM_001097599,NM_001097600,AC011597,AC096992,CH471052,AK314079,AL136661,BC000111,BC022557,BC050423,BI962644,CB123281,CR602043,CR602057,CR618483 NP_079522,NP_001091068,NP_001091069,EAW79111,EAW79112,EAW79113,BAG36777,CAB66596,AAH00111,AAH22557,Q8TBE7,CAL37816,CAL38252 Hs.477692 DKFZp564K2464|MGC3295 transmembrane protein 22 protein-coding 1604450 TMEM220 transmembrane protein 220 12477932 388335 NM_001004313,AC002347,CH471108,AK289624,AY550194,BC127705,BC136838,BC136840,EF126147 NP_001004313,EAW89993,EAW89994,BAF82313,AAS57719,AAI27706,AAI36839,AAI36841,ABL75442,Q6QAJ8 Hs.462230 transmembrane protein 220 protein-coding 2307389 TMEM221 transmembrane protein 221 15057824,12477932,16368877 100130519 AC010319,BC039402,BY797043,NM_001190844 A6NGB7,NP_001177773 Hs.436603 Putative transmembrane protein ENSP00000342162|transmembrane protein 221 protein-coding 1604776 TMEM222 transmembrane protein 222 15342556,14667819,16710414,15489334,14702039,12477932,11230166,9373149,8125298,16169070 84065 BP326836,BQ927627,BX394857,NR_037576,NR_037577,NR_037580,AL663123,CH471059,AF251699,AK095889,AK123218,AK222642,AK307077,AK313110,AL136683,BC011579,BC090039,CR590629,CR591696,CR593094,CR603097,CR603432,CR603896,CR605192,CR605732,CR607480,CR608798,CR609586,CR612028,CR615465,CR615612,CR623375,DC424669,NM_032125,AK303821 NP_115501,CAI14790,CAI14791,CAI14793,CAI14794,EAX07763,EAX07764,EAX07765,EAX07766,EAX07767,EAX07768,AAL99388,BAD96362,BAG35932,CAB66618,AAH11579,AAH90039,Q5SSD9,Q8TDQ4,Q9H0R3,ACE87107,ACE86432,BAG64769,Q5SSD8 Hs.469171 C1orf160|DKFZP564D0478|DKFZp564D0478|MGC111002|RP11-4K3__A.4 OTTHUMP00000004636|OTTHUMP00000004637|OTTHUMP00000197260|transmembrane protein 222 protein-coding 2303656 TMEM223 transmembrane protein 223 17567985,12477932,8889548,20877624 79064 NM_001080501,AP001160,CH471076,BC008643,BC020914,BC035565,BC042801,BC071957,BC094837,BC127679,BP872883,BU684551 NP_001073970,EAW74102,AAH08643,AAH20914,AAH42801,AAH94837,AAI27680,A0PJW6 Hs.530463 MGC3196 transmembrane protein 223 protein-coding 1605235 TMEM225 transmembrane protein 225 338661 NM_001013743,AP002407,AY634366,CH471065 NP_001013765,EAW67557,EAW67558,EAW67559,AAT47557,Q6GV28 Hs.98377 PMP22CD PMP22 claudin domain containing|PMP22 claudin domain-containing protein|transmembrane protein 225 protein-coding 3102903 TMEM229A transmembrane protein 229A 12477932,12690205,8889548 730130 AA065302,AC004690,BC157828,BU741231,CH236947,NM_001136002 AAI57829,B2RXF0,EAL24328,NP_001129474 Hs.450249 MGC189723 transmembrane protein 229A protein-coding 3008206 TMEM231 transmembrane protein 231 12477932,12975309,14702039,16344560 79583 AC009163,AC025287,AK025820,AK057689,AK096650,AK290483,AK298994,AK307263,AY358612,BC010609,BC016401,BC063677,BU173659,CH471114,DA498255,DB082071,NM_001077416,NM_001077418,NM_001077419 AAH10609,AAH16401,AAH63677,AAQ88975,BAB15244,BAF83172,BAG53347,BAH12919,EAW95632,EAW95633,EAW95634,NP_001070884,NP_001070886,NP_001070887,Q6P450,Q9H6L2 Hs.156784 ALYE870|FLJ22167|PRO1886 transmembrane protein 231 protein-coding 3029048 TMEM232 transmembrane protein 232 12477932,14702039,17903294,19584346,20379614,8889548,19913121,20628086 642987 AC010349,AC012622,AC093538,AC114290,AK125070,AK296542,BC042563,BM465182,BM978936,BX648527,CH471086,DC399208,NM_001039763,AC008650 BAG59166,C9JQI7,EAW49042,NP_001034852 Hs.535781 DKFZp686G0585|FLJ35903|FLJ43080 transmembrane protein 232 protein-coding 2923596 TMEM233 transmembrane protein 233 20379614 387890 AC002070,AC002563,AK296289,NM_001136534 B4DJY2,BAG58994,NP_001130006 Hs.530965 IFITMD2 interferon induced transmembrane protein domain containing 2|interferon-induced transmembrane domain-containing protein D2|transmembrane protein 233 protein-coding 1321089 TMEM24 transmembrane protein 24 737633,1580863 9179496,17081983,16368544,15489334,15289880,12477932,12168954 737633 9854 NM_014807,AP003391,CH471065,AB006623,AB094094,AK025223,BC003598,BC010071,BC021254,BC022219,BC033083,BC040131,BC052246,BC075832,BX537572,CR615888 NP_055622,EAW67456,EAW67457,EAW67458,EAW67459,BAA22954,BAC76048,AAH03598,AAH10071,AAH21254,AAH22219,AAH33083,AAH52246,AAH75832,O14523,Q6DHX1,Q9BTM2 Hs.26899 C2CD2L|DLNB23|KIAA0285|TMEM24 C2 domain-containing protein 2-like|transmembrane protein 24 protein-coding 1350182 TMEM25 transmembrane protein 25 16303743,15489334,15340161,15254712,14702039,12975309,12477932,9373149,8125298,19776672 84866 NM_001144038,NM_032780,NM_001144034,NM_001144036,NM_001144035,AP000941,CH471065,EF445037,NM_001144037,AK027305,AK056325,AK075437,AK096260,AK124814,AK225415,AK292359,AK293670,AK297255,AY358919,BC036433,BC042896,BC051841,BF513120,CR605433,CR621200 NP_001137509,NP_001137510,NP_116169,NP_001137506,NP_001137508,NP_001137507,EAW67388,EAW67389,EAW67390,EAW67391,EAW67392,EAW67393,ACA06084,ACA06085,ACA06086,ACA06087,BAB55029,BAB71151,BAC11620,BAF85048,BAH11564,BAH12530,AAQ89278,AAH42896,AAH51841,Q86YD3,Q8NBL5 Hs.564188 FLJ14399 0610039J01Rik|transmembrane protein 25 protein-coding 1319527 TMEM26 transmembrane protein 26 737633 16385451,19430483,15489334,14702039,12477932 737633 219623 NM_178505,AC068892,AL356952,CH471083,AK124367,AK125611,BC042872,CR749606 NP_848600,EAW54219,EAW54220,BAC86218,AAH42872,CAH18401,Q6ZUK4 Hs.623955 DKFZp686D09128|MGC35010 OTTHUMP00000217462|transmembrane protein 26 protein-coding 1354044 TMEM27 transmembrane protein 27 1299472,737633,1580863 17693757,16330323,15489334,12975309,12477932,11278314,20386877,19417552,19582483,19763395 1299472,737633 57393 NM_020665,AC003669,AC112497,CH471074,AF229179,AK313835,AY359060,BC014317,BC015099,BC050606,NG_015970 NP_065716,EAW98894,AAG09466,BAG36568,AAQ89419,AAH14317,AAH15099,AAH50606,Q9HBJ8 Hs.129614 NX-17|NX17 0610008J07Rik|collectrin|kidney-specific membrane protein protein-coding 1345323 TMEM30A transmembrane protein 30A 1580863 20510206,17948906,16344560,15489334,15375526,14702039,14574404,12477932,17207965 55754 NM_001143958,NM_018247,AL080250,CH471051,AA599967,AJ420517,AK001718,AK022883,AK292823,AK293225,AK295567,AL162046,AL832490,AL832815,BC009006,CR607390,CR609657,CR610670,DA217148,DB239737 NP_001137430,NP_060717,CAI19900,EAW48743,EAW48744,EAW48745,BAA91859,BAF85512,BAG56764,BAG58467,CAB82389,CAH56205,CAH56262,AAH09006,Q9NV96,ADQ32357 Hs.108530 C6orf67|CDC50A|FLJ10856 cell cycle control protein 50A protein-coding 1318678 TMEM30B transmembrane protein 30B 16344560,15489334,15375526,14702039,12477932 161291 NM_001017970,AL359220,CH471061,AK091169,AL080078,BC101726,BC113559,DA431345,DA666826,DB220251,DB237714 NP_001017970,EAW80799,BAG52296,AAI01727,AAI13560,Q3MIR4 Hs.146180 CDC50B|MGC126775 cell cycle control protein 50B protein-coding 1349126 TMEM30C transmembrane protein 30C 17258408,15375526 644444 NR_028357,NR_028358,AC129803,AB249666,AB250297 BAF41210,A0ZSE6 Hs.652353 CDC50C pseudo 1346804 TMEM31 transmembrane protein 31 737633 12477932 737633 203562 NM_182541,AL049610,CH471190,CS072437,AK130867,HC007344,BC029575 AAH29575,Q5JXX7,ABM82440,ABM85631,NP_872347,CAI42164,CAI93575,CBH19477,EAW54696 Hs.98843 FLJ27357|MGC39655 transmembrane protein 31 protein-coding 1353146 TMEM33 transmembrane protein 33 737633,1580863 17353931,17081065,15489334,14702039,12477932,17215244,19615732,17207965 737633 55161 AC106052,AC108210,CH471069,AK001387,AK023062,AK024587,AK056974,AK094190,AK308501,AY659966,BC000948,BC014384,CR457260,NM_018126,CR594208,CR609993,CR592529 NP_060596,EAW92991,EAW92992,EAW92993,EAW92994,BAA91665,BAB14384,BAG52840,AAV70491,AAH00948,AAH14384,CAG33541,P57088,ADQ31644 Hs.31082 1600019D15Rik|FLJ10525|SHINC3 OTTHUMP00000218395|OTTHUMP00000218396|OTTHUMP00000218397|transmembrane protein 33 protein-coding 1345227 TMEM35 transmembrane protein 35 15772651,15489334,14702039,12477932,9373149,8889548,8125298 59353 NM_021637,AL109952,CH471115,AK024146,AK223240,AK297745,BC050273,BC078658,BU736545 NP_067650,CAI43000,EAX02839,BAB14840,BAD96960,BAG60095,AAH50273,AAH78658,Q53FP2 Hs.45140,Hs.714277 FLJ14084 transmembrane protein 35 protein-coding 1606154 TMEM37 transmembrane protein 37 12477932,11738816,10734232 140738 NM_183240,AC013275,CH471103,AF361356,BC046362,DR003856,DR005637 NP_899063,AAY14740,EAW95217,EAW95218,AAL50051,AAH46362,Q86SV2,Q8WXS4 Hs.26216 CACNG5|PR|PR1 neuronal voltage-gated calcium channel gamma-like subunit|voltage-dependent calcium channel gamma subunit-like protein|voltage-dependent calcium channel gamma-like subunit protein-coding 1351909 TMEM38A transmembrane protein 38A 737633,1580863 15489334,14702039,12477932,19095005,19913121,20628086 737633 79041 NM_024074,AC008737,AC024075,CH471106,AK025981,AK292764,BC001195 NP_076979,EAW84559,BAB15307,BAF85453,AAH01195,Q9H6F2 Hs.436068 MGC3169|TRIC-A|TRICA trimeric intracellular cation channel type A protein-coding 1347417 TMEM38B transmembrane protein 38B 737633 19095005,18978678,18464913,14702039,12477932,17207965,20800603,19448620,21102462 737633 55151 NM_018112,AL592437,AL592488,AL627247,CH471105,AK001355,AK309686,BC000049,BC031938,CR457258 NP_060582,CAI39689,CAI39690,CAI39691,CAI39692,CAH71457,CAH71458,CAI12389,CAI12390,CAI12391,CAI12392,EAW59003,EAW59004,BAA91645,AAH00049,CAG33539,Q9NVV0,ADQ32497 Hs.411925 C9orf87|D4Ertd89e|FLJ10493|RP11-219P18.1|TRIC-B|TRICB|bA219P18.1 OTTHUMP00000021850|trimeric intracellular cation channel type B protein-coding 1353039 TMEM39A transmembrane protein 39A 737633,1580863 20007504,17207965,14702039,12477932,9373149,19851296,20198315,8125298 737633 55254 NM_018266,AC074271,CH471052,CQ834350,AK001764,AK222950,AK223248,BC003192,BC010070,BC021277 ADQ32654,NP_060736,EAW79571,EAW79572,CAH05390,BAA91893,BAD96670,BAD96968,AAH03192,AAH21277,Q9NV64 Hs.594171 FLJ10902 transmembrane protein 39A protein-coding 1351966 TMEM39B transmembrane protein 39B 737633 16710414,14702039,12477932,11230166,16169070 737633 55116 NM_018056,AL445248,CH471059,CQ834402,AK001177,AK023331,AK091861,AK296653,AK298766,AK300293,AL136695,BC004364,CR457311,CR533536,CR590417,CR598547,CR601680,CR610862,CR612134,CR612740,CR613764 NP_060526,CAH71946,CAH71947,EAX07570,EAX07571,EAX07572,EAX07573,CAH05416,BAA91535,BAB14530,BAG52431,BAG59250,BAG60908,BAG62050,CAB66630,AAH04364,CAG33592,CAG38567,Q9BT39,Q9GZU3,Q9NW51 Hs.25544 FLJ10315|RP11-277A4.3 transmembrane protein 39B protein-coding 1343546 TMEM40 transmembrane protein 40 737633 15489334,14702039,12665801,12477932 737633 55287 AK301984,NM_018306,AC034198,CH471055,AK001898,AK092470,BC020658,CR596715,CR609175,CR619000,CR621156,CR621342 BAG63392,NP_060776,EAW64138,EAW64139,EAW64140,BAA91967,BAC03898,AAH20658,Q8WWA1 Hs.475502 FLJ11036 OTTHUMP00000207910|transmembrane protein 40 protein-coding 1352042 TMEM41A transmembrane protein 41A 737633 15489334,15342556,14702039,12975309,12477932 737633 90407 AK290878,AK313954,AL832782,AY358547,BC008043,BC019884,BP274550,BX647128,BX647928,CR620240,CR620821,NM_080652,AC099661,CH471052,AK172748 BAF83567,AAQ88911,AAH08043,AAH19884,Q96HV5,ACE87323,ACE86641,NP_542383,EAW78219,EAW78220,EAW78221,EAW78222,EAW78223,BAD18735 Hs.677570,Hs.692209 2900010K02Rik|DKFZp686N06149|DKFZp686N107|MGC15397 transmembrane protein 41A protein-coding 1347999 TMEM41B transmembrane protein 41B 16344560,12477932,8889549,7584028,7584026 440026 CR602952,AK303339,BU752757,DA149513,NM_001165030,NR_028491,NM_015012,AC055845,CH471064,BC035034,BC044597,BC064366,BC091524,BI829492,D26067,N54391 BAG64402,NP_001158502,NP_055827,EAW68594,EAW68595,EAW68596,EAW68597,EAW68598,AAH35034,AAH44597,AAH91524,BAA05062,Q5BJD5 Hs.594563 KIAA0033|MGC33897|MGC57262 transmembrane protein 41B protein-coding 1348470 TMEM42 transmembrane protein 42 737633,1580863 12477932 737633 131616 NM_144638,AC098649,CH471055,AL834253,BC019851,CR591568 NP_653239,EAW64725,EAW64726,CAH10689,AAH19851,Q69YG0 Hs.646856 MGC29956 transmembrane protein 42 protein-coding 1348900 TMEM43 transmembrane protein 43 This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq] 737633 11256614,18313022,18230648,16381901,16344560,16303743,15489336,14702039,12975309,12477932,11593002,11230166,11076863,10631146,9860777,9373149,8125298,16169070,19863551,20010364,20379614 737633 79188 NM_024334,NG_008975,AC090004,CH471055,AF086408,AK027466,AK027757,AK027827,AK027877,AK074073,AK075010,AK225589,AL136916,AY358625,BC003125,BC008054,BC011719,CR595205,CR601518,DA259919 NP_077310,EAW64184,EAW64185,EAW64186,EAW64187,BAB55131,BAB55348,BAB55396,BAB55425,BAB84899,BAC11350,CAB66850,AAQ88988,AAH03125,AAH08054,AAH11719,Q8TEP9,Q9BTV4,CAL38038 Hs.517817 ARVC5|ARVD5|DKFZp586G1919|LUMA|MGC3222 arrhythmogenic right ventricular dysplasia 5|transmembrane protein 43 APPROVED protein-coding 1344878 TMEM44 transmembrane protein 44 737633 12477932,20031603 737633 93109 BX647418,NM_138399,NM_001011655,AC046143,CH471052,AI640920,AK126914,AL833026,AY303778,AY597813,BC007772,BC014883,BC034353,BC039506,BC111485,BC130297,BC144158,BC144159,BU521517,BU850042,BX419619,CF265142,AL547748,NM_001166305,NM_001166306 Q2T9K0,Q6PL43,Q7Z5N1,Q96I73,NP_612408,NP_001011655,EAW78040,EAW78041,EAW78042,EAW78043,EAW78044,BAC86747,CAH56264,AAP76183,AAT09006,AAH07772,AAH14883,AAH34353,AAI11486,AAI30298,AAI44159,AAI44160,NP_001159777,NP_001159778,ADR82995 Hs.478729 DKFZp686O18124|MGC131692|MGC163169 OTTHUMP00000209083|OTTHUMP00000209084|OTTHUMP00000214719|transmembrane protein 44 protein-coding 1344791 TMEM45A transmembrane protein 45A 737633 15489334,14702039,12477932,17207965 737633 55076 NM_018004,AC128693,CH471052,AB013911,AK000996,AK129789,AY450392,BC040355 NP_060474,EAW79819,EAW79820,BAB87801,BAA91458,AAR21085,AAH40355,Q9NWC5,ADQ31583 Hs.658956 DERP7|FLJ10134 DNA polymerase-transactivated protein 4|OTTHUMP00000197053|dermal papilla derived protein 7|dermal papilla-derived protein 7|transmembrane protein 45A protein-coding 1348060 TMEM45B transmembrane protein 45B 737633 19773279,20379614,15489334,14702039,12477932 737633 120224 BC016153,NM_138788,AP003327,CH471065,AK098106,AK290283,AK292058 ACT64573,ACT64574,AAH16153,Q96B21,NP_620143,EAW67747,EAW67748,EAW67749,EAW67750,EAW67751,BAC05235,BAF82972,BAF84747 Hs.504301 FLJ40787 transmembrane protein 45B protein-coding 1343840 TMEM47 transmembrane protein 47 This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq] 68668,1580863 11256614,16381901,15772651,15489336,15489334,15345028,14702039,12477932,11472633,11230166,11076863,18056173 68668 83604 NM_031442,AL596285,CH471074,AK090917,AK311054,AL049257,AL136550,BC039242,CX788638 NP_113630,CAI40203,EAW99070,EAW99071,CAB66485,AAH39242,Q9BQJ4,CAL37622 Hs.8769 BCMP1|DKFZp564E153|DKFZp761J17121|FLJ18096|MGC32949|TM4SF10 brain cell membrane protein 1|transmembrane 4 superfamily member 10|transmembrane protein 47 protein-coding 1601865 TMEM48 transmembrane protein 48 16600873,17081983,16779818,16710414,16702233,16565220,15489334,14702039,12958361,12477932,19703420,19782045 55706 AL354612,AL354613,BC003082,BX648031,DQ141696,NM_018087,AL049745,CH471059,AK001269,AK001593,AK022618,AK091439,AK295000,AK298909,AK302910,AK025450,BM554303,DC413103,NM_001168551,NR_033142 BAG64078,CAB89725,CAB89726,AAH03082,AAZ73087,Q9BTX1,NP_060557,CAI22180,EAX06731,EAX06732,EAX06733,BAA91592,BAB14135,BAC03665,BAG58064,BAG61017,NP_001162023 Hs.476525 FLJ10407|FLJ12556|FLJ34120|NDC1|NET3|RP4-654H19.1 hNDC1|nucleoporin NDC1 protein-coding 731420 TMEM49 transmembrane protein 49 20299819,19019082,11256614,18550798,18384814,17940279,17724469,16381901,15489336,15466293,12477932,11785947,11230166,11076863 81671 NM_030938,AC004686,AC025858,AC040904,AC091271,CH471109,AB047551,AF161410,AF214006,AK024969,AK025987,AK293578,AK293664,AK294854,AK301254,AL136711,BC009758,BC024020,CR533521,CR597083,CR608437,CR623568,DC428792 NP_112200,EAW94390,EAW94391,EAW94392,EAW94393,BAF47368,AAF28970,AAL36461,BAG57048,BAG57110,BAG57958,BAG62821,CAB66646,AAH09758,CAG38552,Q96GC9,CAL38428,CAL38503,ABM83495 Hs.444569,Hs.708260 DKFZp566I133|VMP1 transmembrane protein 49|vacuole membrane protein 1 protein-coding 1319660 TMEM5 transmembrane protein 5 1580863 10072769,15489334,12477932,20379614 10329 NM_014254,AC084357,CH471054,AB015633,AK289382,BC002596,BC013152,BX647105,BX647419,CR606653,CR610902,CR613360,CR616450,CR619804,CR622234,CR623257 NP_055069,EAW97120,EAW97121,BAA76500,BAF82071,AAH02596,AAH13152,Q9Y2B1,ABM82003,ABM85185 Hs.216386 HP10481 putative type II membrane protein|transmembrane protein 5 protein-coding 1606813 TMEM50A transmembrane protein 50A This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq] 11256614,16381901,16094384,15489336,15489334,12975309,12477932,11902138,11230166,11076863,10938938,10845894,16169070 23585 NM_014313,NG_003255,AF458851,AL928711,BN000065,CH471134,AF081282,AF087880,AK299180,AK311092,AK311355,AK312588,AL136627,AY071927,AY358650,BC007341,BC066908,BX537683,CR592818,CR596941 NP_055128,AAL51108,CAH72608,CAD29849,EAW95168,EAW95169,AAD17754,AAP97180,BAH12963,BAG35482,CAB66562,AAL61545,AAQ89013,AAH07341,AAH66908,O95807,Q7RU07,Q7Z509,CAL37465,CAL37763,CAL37858 Hs.523054 IFNRC|RP11-335G20.3|SMP1 cervical cancer oncogene 9|small membrane protein 1|transmembrane protein 50A protein-coding 1316828 TMEM50B transmembrane protein 50B 11256614,16780588,17567994,15489334,12975309,12477932,10830953,10077530 757 BM152475,CR613027,DQ286229,DQ656043,NM_006134,AF039906,AP000300,AP000301,AP000302,CH471079,AF045606,AF086280,AK309977,AK310701,AK311870,AL355685,AY358634,AY820138,BC000569,BF696480,AK129657,AC207981 ABB91377,P56557,Q2V8N0,NP_006125,AAC05090,EAX09832,EAX09833,AAC05974,BAG34811,AAQ88997,AAV68502,AAH00569,BAC85209,Q6ZPB0 Hs.433668 C21orf4|DKFZp686C2482|FLJ26146|HCVP7TP3 HCV p7-trans-regulated protein 3|HCV p7-transregulated protein 3|OTTHUMP00000199740|chromosome 21 open reading frame 4|transmembrane protein 50B protein-coding 1602878 TMEM51 transmembrane protein 51 16169070,20379614,16710414,15489334,15342556,14702039,12477932 55092 NM_001136216,NM_001136217,NM_001136218,NM_018022,AL035405,AL391094,CH471167,AK001061,AK098467,AK129922,AK292184,AL525184,BC000202,BC000593,BC005177,BM310196,BP275401,CR457120,CR599423,CR607065,DC295166,DC345032 NP_060492,NP_001129688,NP_001129689,NP_001129690,CAI23267,CAI95771,EAW51710,EAW51711,EAW51712,EAW51713,EAW51714,BAA91486,BAF84873,AAH00202,AAH00593,AAH05177,CAG33401,Q9BSA0,Q9NW97 Hs.465305 C1orf72|FLJ10199 OTTHUMP00000002032|OTTHUMP00000070984|transmembrane protein 51 protein-coding 1603246 TMEM52 transmembrane protein 52 15146197,12975309 339456 AJ278736,AW083128,AY358544,CN263898,NM_178545,AL109917,CH471183 EAW56143,CAC82104,AAQ88908,Q8NDY8,ACT64393,ACT64394,NP_848640,CAI95656,CAI95657,CAI95658,CAI95659,EAW56142 Hs.123423 transmembrane protein 52 protein-coding 1603008 TMEM53 transmembrane protein 53 12958361,12477932,9373149,8125298,17207965,18029348 79639 NM_024587,AL122004,CH471059,AK026006,AK225405,AL832539,BC007521,BC064520,CR457348,CR592706,CR608781,AK296548 NP_078863,CAI22340,CAI22341,CAI22342,EAX07028,EAX07029,EAX07030,BAB15317,CAI46125,AAH64520,CAG33629,Q6P2H8,ADQ32534,BAG59172 Hs.22157 FLJ22353|NET4|RP4-678E16.2 OTTHUMP00000009545|novel DUF829 domain-containing protein|transmembrane protein 53 protein-coding 1606187 TMEM54 transmembrane protein 54 9500206,15489334,12477932,11394883 113452 NM_033504,AC114493,CH471059,AB012692,AY027543,AY359883,BC001418,BC013953,BC020497,BC023260,CR596164 NP_277039,EAX07492,EAX07493,BAA87335,AAK13050,AAQ64021,AAH01418,AAH13953,AAH23260,Q969K7 Hs.534521 BCLP|CAC-1|CAC1|MGC10137 beta-casein-like protein|protein CAC-1|transmembrane protein 54 protein-coding 1602110 TMEM55A transmembrane protein 55A TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM] 16365287,16344560,15489334,12477932,17207965 55529 NM_018710,AC087439,AL359591,CH471060,AK313783,BC033892,CR603128,CR749733,DA171968 NP_061180,EAW91672,EAW91673,BAG36521,AAH33892,CAH18492,Q8N4L2,ADQ31835 Hs.202517 DKFZp762O076 PtdIns-4,5-P(2) 4-phosphatase type II|ptdIns-4,5-P2 4-Ptase II|transmembrane protein 55A|type II phosphatidylinositol 4,5-bisphosphate 4-phosphatase protein-coding 1316692 TMEM55B transmembrane protein 55B TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM] 17940011,16381901,16365287,15489336,15489334,12477932,11076863 90809 NM_001100814,NM_144568,AL355075,CH471078,AK314021,AL137727,BC002867,BC020947,BX161490,BX248025,CA430067,CR598955,CR603399,CR611742,CR614912,CR616831,CR620252,CR620640,CR625488 NP_001094284,NP_653169,EAW66460,EAW66461,EAW66462,BAG36732,CAB70896,AAH02867,AAH20947,CAD61939,CAD62347,Q86T03,CAL37623 Hs.7001 C14orf9|DKFZp434M0519|MGC26684 PtdIns-4,5-P(2) 4-phosphatase type I|ptdIns-4,5-P2 4-Ptase I|transmembrane protein 55B|type I phosphatidylinositol 4,5-bisphosphate 4-phosphatase protein-coding 1602981 TMEM56 transmembrane protein 56 20379614,14702039,12477932,8889548 148534 NM_152487,AC092802,AC095033,BX537731,CH471097,AK056404,AK126344,BC019700,BC137457,BC137458,BC139737,BE466427,BU683936,CR613763,BC108263,BQ575814,NM_001199679 NP_689700,EAW73024,EAW73025,BAB71177,AAI37458,AAI37459,AAI39738,Q96MV1,NP_001186608 Hs.483512 FLJ31842|MGC102912 OTTHUMP00000012541|OTTHUMP00000012542|transmembrane protein 56 protein-coding 1605378 TMEM57 transmembrane protein 57 19060911,15489334,15255972,15231748,12477932,12459264,14702039,19913121,20628086 55219 NM_018202,AL031284,BX572623,CH471059,AK001609,AK311472,AY845015,AY845035,AY845036,BC007687,BC020801,BC032427 NP_060672,CAM12862,EAX07876,EAX07877,EAX07878,BAA91786,AAX11913,AAX11933,AAX11934,AAH32427,Q8N5G2,Q9H5V1,CAM12861 Hs.189782 FLJ10747|FLJ23007|MACOILIN|RP3-469D22.2 macoilin protein-coding 1321145 TMEM59 transmembrane protein 59 1298632 20379614,16710414,16303743,15489334,14702039,12975309,12477932,11042152,9653160,9373149,8125298,20427278 1298632 9528 AK123445,AK124967,AK225624,AY359029,BC003106,BC016374,BC062738,BC095464,CR591312,CR595744,CR599228,CR599396,CR599456,CR610199,CR613715,CR617143,CR622094,CR622958,AK075505,AL353898,CH471059,CQ783271,CS051337,AF047439,AF290615,AK075187,NM_004872 BAC11658,AAQ89388,AAH03106,AAH16374,AAH62738,AAH95464,Q5T6Z8,Q5T704,Q5T706,Q6P5R1,Q9BXS4,NP_004863,CAI22663,CAI22664,CAI22665,CAI22666,CAI22667,EAX06704,EAX06705,EAX06706,EAX06707,EAX06708,EAX06709,EAX06710,EAX06711,CAF86476,CAI72163,AAC39890,AAK28026,BAG52079 Hs.726034 C1orf8|FLJ42977|HSPC001 OTTHUMP00000010118|chromosome 1 open reading frame 8|liver membrane-bound protein|transmembrane protein 59 protein-coding 1313653 TMEM59L transmembrane protein 59-like This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq] 10527841,15489334,12477932 25789 AC003112,AC008998,CH471106,AF186264,AK309384,BC010446,BI752768,CR591469,CR594014,CR594280,CR595310,CR595970,CR598539,CR601081,CR604903,CR608463,CR612265,CR612781,CR614850,CR614868,CR618668,NM_012109,CR618699,CR624040 NP_036241,EAW84726,EAW84727,AAF00529,AAH10446,Q9UK28,ACE87316,ACE86634 Hs.329850 BSMAP|C19orf4 brain-specific membrane-anchored protein|chromosome 19 open reading frame 4|transmembrane protein 59-like protein-coding 1344846 TMEM6 transmembrane protein 6 64731 1318999 TMEM60 transmembrane protein 60 15489334,12853948,12690205,12477932,20383146 85025 BX117806,CR614492,BC012192,BC065930,NM_032936,AC004955,CH236949,CH471091,AF260336 AAG44667,AAH65930,Q9H2L4,NP_116325,AAP21882,AAP21883,EAL24196,EAW77032,ADR82699 Hs.19025 C7orf35|DC32|MGC74482 transmembrane protein 60 protein-coding 1604209 TMEM61 transmembrane protein 61 16710414,15489334,12477932,17207965 199964 NM_182532,AL590440,CH471059,BC029775 Q8N0U2,NP_872338,CAH70359,EAX06662,AAH29775,ADQ32413 Hs.663950 transmembrane protein 61 protein-coding 1605041 TMEM62 transmembrane protein 62 15489334,14702039,12477932,12434312,9373149,8125298,16169070 80021 NM_024956,AC068724,CH471125,AK027028,AK225353,AK309679,BC009981,CR457370,CR593950 NP_079232,EAW92586,EAW92587,BAB15630,AAH09981,CAG33651,Q0P6H9 Hs.511175 FLJ23375 transmembrane protein 62 protein-coding 1605419 TMEM63A transmembrane protein 63A 19913121,20628086,16710414,15489334,14702039,12477932,9872452,9455484,9373149,8125298,16344560 9725 NM_014698,AL117348,AL591895,CH471098,AB007958,AB018335,AK022502,AK222934,AK222944,AK309210,BC030245,BC113811,BF512395,CQ834864,DA127076 NP_055513,CAI21797,CAI21798,CAH71996,EAW69758,EAW69759,BAA34512,BAG51078,BAD96654,BAD96664,AAH30245,AAI13812,O94886,Q2HIZ8,CAH05647 Hs.119387 KIAA0489|KIAA0792|RP4-559A3.1 transmembrane protein 63A protein-coding 1314147 TMEM63B transmembrane protein 63B 15489334,14702039,14574404,12477932 55362 NM_018426,AL365192,CH471081,AK093629,AK309791,AL353957,AL834238,BC022095,BC062989,BC093086,BC136769,BE463633,CR627460 NP_060896,CAI20530,CAI20531,EAX04246,EAX04247,EAX04248,BAC04207,CAB89257,CAD38916,AAH62989,AAI36770,CAH10540,Q5T3F8 Hs.414473 C6orf110|DKFZp686N2275|RP3-421H19.2 OTTHUMP00000016501|OTTHUMP00000016503|chromosome 6 open reading frame 110|transmembrane protein 63B protein-coding 1320973 TMEM63C transmembrane protein 63C 14702039,12508121,12477932,20379614 57156 AC007375,AC007954,CH471061,AK124749,AK125159,AL137278,AL157492,AL537279,BC136613,BC136614,BX248756,BX248759,NM_020431 NP_065164,AAF63182,AAF62556,EAW81272,EAW81273,BAG54088,BAG54157,CAB75676,AAI36614,AAI36615,CAD66563,CAD66566,Q9P1W3 Hs.22452 C14orf171 transmembrane protein 63C protein-coding 1606436 TMEM64 transmembrane protein 64 14702039,12477932 169200 CR610885,NM_001008495,NM_001146273,AB015752,AC106038,CH471060,AA044031,AK095472,AK123958,AK300583,AL834364,AY147881,BC017409,BC113828 AAI13829,Q6YI46,NP_001008495,NP_001139745,EAW91668,BAG53986,BAG62282,CAD39028,AAN05737 Hs.567759 DKFZp762C1112 transmembrane protein 64 protein-coding 1603356 TMEM65 transmembrane protein 65 15489334,12477932,8889548,20877624 157378 NM_194291,AC090192,CH471060,AW300050,BC017881,BC032396,BC041379,BM679703,BQ433192,CR610944,DB479586 NP_919267,EAW92061,AAH17881,AAH32396,AAH41379,Q6PI78 Hs.187646 transmembrane protein 65 protein-coding 1604621 TMEM66 transmembrane protein 66 16303743,15489334,15340161,14702039,12975309,12477932,11042152,9373149,8125298,16169070,20379614 51669 NM_016127,AC044849,CH471080,CQ834206,AB028926,AF078855,AF100748,AF490252,AK025927,AK075340,AK094386,AK130057,AK222632,AK295360,AK314659,AK315956,AY359104,BC015012,CR589968,CR592722,CR592958,CR594774,CR596584,CR597672,CR603460,CR603787,CR604656,CR604748,CR605556,CR605765,CR607306,CR608346,CR608438,CR608849,CR609363,CR609979,CR610452,CR612155,CR613232,CR613264,CR615477,CR616524,CR622782,CR622883,CR622956,CR625035,Z70223 NP_057211,EAW63471,EAW63472,EAW63473,EAW63474,CAH05318,BAB82465,AAD44487,AAD43012,AAO85460,BAG52116,BAG52863,BAD96352,BAH12043,BAH14327,AAQ89462,AAH15012,Q96BY9,ABM83377,ABM86589 Hs.521487 FLJ22274|FOAP-7|HSPC035|MGC8721|XTP3 HBV X-transactivated gene 3 protein|HBV XAg-transactivated protein 3|protein FOAP-7|transmembrane protein 66 protein-coding 1606753 TMEM67 transmembrane protein 67 The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq] 20232449,19058225,18327255,17397051,17377820,17185389,17160906,16415887,16344560,15489334,14702039,12477932,12384791,19508969,19515853,19574260,19815549,21068128 91147 NR_024522,NM_153704,NM_001142301,NG_009190,AC010834,CH471060,AK026742,AK092244,AK094935,AK297676,AK308071,AK308735,BC017974,BC031220,BC032835,BC054338,BM310097,BX648768,DA928293,DC368894 NP_714915,NP_001135773,EAW91701,EAW91702,EAW91703,BAG52507,BAG52959,BAG60037,AAH32835,CAI45999,Q5HYA8 Hs.116240 JBTS6|MECKELIN|MGC26979|MKS3|NPHP11|TNEM67 Meckelin|OTTHUMP00000203160|meckel syndrome type 3 protein protein-coding 1603902 TMEM68 transmembrane protein 68 15489334,14702039,12477932,20379614 137695 NM_152417,AC100817,CH471068,AK056932,AK308247,AL832935,BC020835,BC043417,BC071636 NP_689630,EAW86758,EAW86759,EAW86760,BAB71312,CAH56335,AAH20835,AAH43417,AAH71636,Q49A68,Q96MH6 Hs.420076 FLJ32370|MGC87778 transmembrane protein 68 protein-coding 1605680 TMEM69 transmembrane protein 69 16344560,16710414,15489334,12477932,11042152 51249 AL604028,CH471059,CS300524,AF151063,AK024682,BC013608,BC034147,BC039718,BC040289,BC046130,BC054041,NM_016486,BC064539,BC073836,BC104636,BC121117,BC133692,CR591825,CR599427,CR618480,CR626725,DA451438 CAI16665,EAX06953,EAX06954,CAK32188,AAF36149,AAH13608,AAH34147,AAH39718,AAH46130,NP_057570,AAH64539,AAH73836,AAI21118,AAI33693,Q5SWH9 Hs.727642 C1orf154|FLJ21029|MGC104183|RP11-767N6.4 transmembrane protein 69 protein-coding 1603032 TMEM70 transmembrane protein 70 18953340,15489334,12477932,9373149,8125298,14702039,20877624,16169070,19103153,20200953,20237496,20335238,8889548,19913121,20628086 54968 NM_001040613,NM_017866,AC022868,CH471068,AI800622,AK000540,AK225531,AK225536,BC002748,CB961613,BF439499,BM984431,BU542365,DB483583,NG_016618,NR_033334 NP_001035703,NP_060336,EAW87022,EAW87023,BAA91240,AAH02748,Q9BUB7 Hs.106650 FLJ20533 transmembrane protein 70, mitochondrial protein-coding 1606965 TMEM71 transmembrane protein 71 15489334,14702039,12477932 137835 NM_144649,NM_001145153,AF228727,CH471060,AK057631,BC022053,BC062592,BC105783,BG505962,CR619905 NP_653250,NP_001138625,EAW92145,EAW92146,EAW92147,BAB71537,AAH22053,AAH62592,AAI05784,Q6P5X7 Hs.293842 FLJ33069|MGC111188 transmembrane protein 71 protein-coding 1354072 TMEM72 transmembrane protein 72 12477932 643236 NM_001123376,AL353801,AB235418,BC029135,BC127789,BC127790,BX538120 NP_001116848,BAF97794,AAI27790,AAI27791,A0PK05,CAI13061 Hs.292788 C10orf127|DKFZp686M0585|KSP37|MGC157906|bA285G1.3 kidney-specific secretory protein of 37 kDa|transmembrane protein 72 protein-coding 1605858 TMEM74 transmembrane protein 74 17207965,18294959,15489334,14702039,12477932 157753 BC030710,AC104247,CH471060,AK055230,NM_153015 ADQ31879,AAH30710,Q96NL1,BAB70881,NP_694560,EAW91921,EAW91922 Hs.99439 FLJ30668|NET36 transmembrane protein 74 protein-coding 1602783 TMEM75 transmembrane protein 75 14702039 641384 Q8N9X5 NM_001037234,AK093424 Q8N9X5,NP_001032311,BAC04160 Hs.629674 FLJ36105 2292709 PRSTS2_H protein-coding 1601945 TMEM79 transmembrane protein 79 17207965,17081983,16710414,16344560,15489334,14702039,12477932,20139978 84283 NR_026678,NM_032323,AL589685,CH471121,AK056816,AK122634,AK315767,BC005094,BF448444,CR591803,DA678865,DA880152 NP_115699,CAI14161,CAI14162,CAI14163,EAW52970,EAW52971,EAW52972,ADQ31815,BAB71290,BAG38119,AAH05094,Q96MJ8,Q9BSE2 Hs.347408 FLJ16057|FLJ32254|MGC13102 OTTHUMP00000021231|OTTHUMP00000021232|transmembrane protein 79 protein-coding 1603868 TMEM80 transmembrane protein 80 12477932,8889548 283232 NM_001042463,NM_174940,AC131934,CH471158,AI739035,AK124309,AK302585,BC008671,BC038383,BI916171,CA443683,CB044312,CF134831,CK819789,DR006597 NP_001035928,NP_777600,EAX02372,EAX02373,BAH13755,AAH08671,Q96HE8 Hs.448664 FLJ38216|FLJ55823 transmembrane protein 80 protein-coding 1606867 TMEM81 transmembrane protein 81 12975309,12477932 388730 NM_203376,AL583832,CH471067,AK303432,AY359081,BC061592 NP_976310,CAI15289,EAW91535,BAG64482,AAQ89440,AAH61592,Q6P7N7 Hs.146928 HC3107|KVLA2788|MGC75217|UNQ2788 transmembrane protein 81 protein-coding 1603825 TMEM82 transmembrane protein 82 12477932 388595 NM_001013641,AL450998,CH471167,BC127706,BC127707,BC137239,BC137240 NP_001013663,CAH70850,EAW51749,AAI27707,AAI27708,AAI37240,AAI37241,A0PJX8 Hs.454828 transmembrane protein 82 protein-coding 2303891 TMEM84 transmembrane protein 84 15489334,14702039,12477932 283673 NR_026949,AC027088,CH471082,AA843716,AK091087,AK097560,AK292174,BC101594,BC101596,BX493526 EAW77833,EAW77834,EAW77835,BAC03580,BAF84863 Hs.177927 FLJ33768|MGC126643|MGC126645|TMEM84 miscrna 1605682 TMEM85 transmembrane protein 85 18586032,16303743,15489334,14702039,12477932,11042152 51234 NM_016454,AC079203,CH471125,CQ783331,AF151018,AK075227,AK290524,AY336092,BC002583,BC016348,CR595333,CR597763,CR597809,CR599971,CR607532,CR609616,CR619572,CR620239 NP_057538,EAW92292,EAW92293,EAW92294,CAF86541,AAF36104,BAC11486,BAF83213,AAR24622,AAH02583,Q5J8M3 Hs.250905 FLJ90746|MGC24415|PIG17 cell proliferation-inducing gene 17 protein|proliferation-inducing gene 17|transmembrane protein 85 protein-coding 1601825 TMEM86A transmembrane protein 86A 16303743,15489334,14702039,12477932,17207965 144110 NM_153347,AC103974,CH471064,CQ782568,AK074600,BC017073,BC035692,CR595902 NP_699178,EAW68373,CAF85844,BAC11084,AAH17073,AAH35692,Q8N2M4,ADQ32657 Hs.502100 FLJ90119 transmembrane protein 86A protein-coding 1603160 TMEM86B transmembrane protein 86B 15489334,12477932,17207965 255043 AA953377,CR595325,NM_173804,AC010327,CH471135,AK126545,BC023000,BC033193 NP_776165,EAW72350,EAW72351,AAH23000,Q8N661,ADQ31654 Hs.135215 MGC30208 transmembrane protein 86B protein-coding 1603672 TMEM87A transmembrane protein 87A 17081983,16303743,15489334,12477932,12434312,10332034 25963 AC022468,AC036103,CH471125,CQ782835,CQ834520,AF129927,AF132733,AI023965,AK074870,AK075403,AK289591,AK290150,NM_015497,AK290484,AK297816,AK309915,AK309954,AL049944,BC005335,BC069240,BM989574,CR596160,DC341748,NM_001110503 EAW92540,EAW92541,EAW92542,CAF86061,CAH05475,AAF66444,BAC11256,BAC11598,BAF82280,NP_001103973,NP_056312,BAF83173,BAG60154,CAB43218,AAH05335,AAH69240,Q8NBN3,BAF82839 Hs.511138 DKFZp564G2022 transmembrane protein 87A protein-coding 1605922 TMEM87B transmembrane protein 87B 16344560,14702039,14684825,12477932 84910 NM_032824,AC092645,AC093675,CH471245,AI806006,AK027587,AK074243,AK290294,AY429534,AY429535,BC115373,CR621710,DA550235,DA806277 NP_116213,AAY14853,AAY24214,EAW52099,BAB55214,BAF82983,AAI15374,Q53RE0,Q96K49 Hs.656298 FLJ14681 transmembrane protein 87B protein-coding 1601835 TMEM88 transmembrane protein 88 15489334,12477932 92162 NM_203411,AC104581,CH471108,AK000032,BC057812,CR597798 NP_981956,EAW90124,EAW90125,AAH57812,Q6PEY1 Hs.389669 FLJ20025|MGC71744 transmembrane protein 88 protein-coding 2802463 TMEM88B transmembrane protein 88B 16710414 643965 AL391244,NM_001146685 A6NKF7,NP_001140157 Hs.524416 transmembrane protein 88B protein-coding 1606359 TMEM89 transmembrane protein 89 12477932 440955 NM_001008269,AC121252,AX657016,CH471055,BC133034,BC133036 NP_001008270,CAD79709,EAW64899,AAI33035,AAI33037,A2RUT3 Hs.631922 transmembrane protein 89 protein-coding 1322834 TMEM8A transmembrane protein 8A 1580863 11006113,16344560,15616553,15489334,14702039,12477932,11157797 58986 NM_021259,AE006463,CH471112,Z97634,AB045292,AI678371,AK024725,AK091823,AL537021,AL546643,BC004276,BC021557,CR590299,DB224383 NP_067082,AAK61227,EAW85823,EAW85824,EAW85825,CAI95597,CAI95598,BAB16376,BAB14975,AAH04276,AAH21557,Q9HCN3,ABM82961,ABM86152 Hs.288940 M83|TMEM6|TMEM8 OTTHUMP00000199684|five-span transmembrane protein M83|transmembrane protein 6|transmembrane protein 8 (five membrane-spanning domains)|transmembrane protein 8A protein-coding 1320668 TMEM8B transmembrane protein 8B 15498789,17641538,17270023,15723283,15489334,15164053,12918109,12477932,12474055,11565907,9110174,20705583,8619474,19499154,19755717,20423473 51754 NM_016446,NM_001042589,NM_001042590,AL133410,CH471071,CQ783981,AF070572,AF188239,AK074844,BC041377,BC043384,BC064951,BC082765,BC098265,BC098296,BC099733,CR608738 NP_057530,NP_001036054,NP_001036055,CAI10994,CAI10995,CAI10996,EAW58325,EAW58326,EAW58327,EAW58328,CAF86955,AAC28644,AAG29055,BAG52015,AAH98265,AAH98296,AAH99733,A6NDV4,Q5TCW0 Hs.493808 C9orf127|MGC120460|NAG-5|NGX6|RP11-112J3.10 OTTHUMP00000021355|Protein NGX6|nasopharyngeal carcinoma expressed 6|nasopharyngeal carcinoma related protein|nasopharyngeal carcinoma-associated gene 6 protein|protein NAG-5|transmembrane protein 8B protein-coding 3302829 TMEM8C transmembrane protein 8C 389827 BX324209,NM_001080483 A6NI61,NP_001073952 Hs.512467 TMEM226 M83-like|transmembrane protein 226|transmembrane protein 8-like|transmembrane protein 8C protein-coding 1317397 TMEM9 transmembrane protein 9 1580863 12359240,18541524,16381901,16303743,15489334,14702039,12975309,12477932,11230166,11076863,11042152,15489336,16169070,20379614 252839 AK091726,AK094588,AK296307,AK303843,AL136600,AY138587,AY359012,BC001106,CR457162,CR533467,CR593584,CR594211,CR594339,CR597911,CR599281,CR600811,CR603168,CR606823,CR613421,CR615799,CR617609,CR618141,CR619092,CR620935,CR623586,CR624691,CR624789,CR626614,AL139159,CH471067,CS051125,CS072356,AB013909,AF151020,AK054883,AK075335,NM_016456 BAG59006,BAG64786,CAB66535,AAN15925,AAQ89371,AAH01106,CAG33443,CAG38498,Q6FIF9,Q6IAJ3,Q9P0T7,CAL38191,CAL38483,NP_057540,CAI23209,CAI23210,CAI23211,CAI23212,CAI23213,EAW91337,EAW91338,EAW91339,EAW91340,EAW91341,EAW91342,EAW91343,EAW91344,CAI72058,CAI93494,BAB87799,AAF36106,BAB70820,BAC11554 Hs.181444 TMEM9A OTTHUMP00000033977|OTTHUMP00000038640|OTTHUMP00000038643|dermal papilla-derived protein 4|transmembrane protein 9 protein-coding 1602232 TMEM90A transmembrane protein 90A 16359841,16344560,14702039,12477932 646658 NM_001105579,AC005479,AK094873,BC045804,CK906042,DB173128,DB473943 NP_001099049,A6NDD5 Hs.12400 CAPUCIN|IFITMD4 capucin|caudate- and putamen-enriched sequence|caudate-and putamen-enriched sequence|interferon induced transmembrane protein domain containing 4 protein-coding 1321842 TMEM90B transmembrane protein 90B 15489334,14702039,12477932,11780052,16169070,20379614,17207965 79953 NM_024893,AL034426,AL049594,AL157413,CH471133,AK024282,BC030637,CR457325 NP_079169,CAI23040,CAI15132,EAX10117,BAB14872,AAH30637,CAG33606,Q9H7V2,ADQ31894 Hs.124638 C20orf39|FLJ14220|IFITMD5 interferon induced transmembrane protein domain containing 5|transmembrane protein 90B protein-coding 1602234 TMEM91 transmembrane protein 91 16344560,14702039,12477932,8889548,19913121,20628086 641649 NM_001098821,NM_001098822,NM_001098823,NM_001098824,NM_001042595,AC011462,CH471126,AI214374,AI277187,AK130820,AL833095,BC063705,NM_001098825,BF684543,BG697182,BM675470,BM726200,BM931402,BX090160,CR593776,CR610273,DA673235,R01772,R67551 NP_001092295,NP_001092291,NP_001092292,NP_001092293,NP_001092294,NP_001036060,EAW57036,EAW57037,BAC85439,AAH63705,Q6P434,Q6ZNR0 Hs.709417 FLJ27310|FLJ45695|IFITMD6 interferon induced transmembrane protein domain containing 6|transmembrane protein 91 protein-coding 1603555 TMEM92 transmembrane protein 92 15489334,14702039,12975309,12477932,16344560,19834535 162461 NM_153229,AC015909,CH471109,AK090637,AY358204,BC064507,AW293202,DB072318,NM_001168215 NP_694961,EAW94628,BAC03495,AAQ88571,AAH64507,Q6UXU6,NP_001161687 Hs.224630 FLJ33318 OTTHUMP00000221160|transmembrane protein 92 protein-coding 1606492 TMEM93 transmembrane protein 93 16341674,15489334,12477932 83460 NM_001014764,NM_031298,AC132942,CH471108,BC001409,BM825446,BQ277705,CR609408 NP_001014764,NP_112588,EAW90490,AAH01409,Q9BV81 Hs.30011 MGC2963 transmembrane protein 93 protein-coding 1603857 TMEM95 transmembrane protein 95 12975309,12477932 339168 BC040900,BC107110,NM_198154,AC026954,CH471108,AY358218 AAQ88585,AAH40900,AAI07111,Q3KNT9,NP_937797,EAW90205,EAW90206,EAW90207 Hs.259432 MGC129793|UNQ9390 transmembrane protein 95 protein-coding 1607046 TMEM97 transmembrane protein 97 7694637,18070364,17143516,16344560,15489334,15375745,12477932,19583955 27346 NM_014573,AC002094,CH471159,AK293331,AK299511,AK307678,BC017362,BC045655,BC091504,CA441136,CR590967,CR612870,CR613993,DA410183,L19183 NP_055388,EAW51067,EAW51068,EAW51069,BAG56847,BAG61464,AAH45655,AAH91504,AAA16188,Q5BJF2,Q86XC5 Hs.199695 MAC30 transmembrane protein 97 protein-coding 1607062 TMEM98 transmembrane protein 98 11256614,16381901,15489336,15489334,12975309,12477932,11230166,11076863 26022 NM_001033504,AC084809,CH471147,AF132000,AK313569,AL117619,AY358573,BC000526,BC106911,CR457125,CR590256,CR590271,CR590379,CR593283,CR596801,CR596889,CR597085,CR597844,CR600711,CR605299,CR605381,CR606539,CR608363,CR608592,CR613257,CR613996,CR617078,CR617431,NM_015544 NP_056359,NP_001028676,EAW80219,EAW80220,AAD22105,BAG36342,CAB56018,AAQ88936,AAH00526,AAI06912,CAG33406,A0AUK5,CAL37523,Q9Y2Y6 Hs.3447 DKFZp564K1964 OTTHUMP00000163790|OTTHUMP00000163791|transmembrane protein 98 protein-coding 1603177 TMEM99 transmembrane protein 99 16461635,15489334,14702039,12477932,11752456,8889548 147184 NM_145274,AC090283,CH471152,AI301318,AK097454,AK298616,AV649893,BC015365,CR608287,DN920898,DB459363,NM_001195386,NM_001195387,AW151726,BG530583,BM667164,CD689247 NP_660317,EAW60682,EAW60683,EAW60684,BAC05059,BAG60796,AAH15365,Q8N816,NP_001182315,NP_001182316 Hs.353163 MGC21518 OTTHUMP00000164946|transmembrane protein 99 protein-coding 1321873 TMEM9B TMEM9 domain family, member B 12761501,16303743,15489334,15340161,12975309,12477932,11528127,16169070 56674 NM_020644,AC026894,AJ400877,CH471064,CQ783570,CQ834260,AB097017,AK074677,AK300712,AK310723,AK313065,AK316216,AY359069,BC015884,BC040124,CR595163,CR605470,CR609980,CR610059,CR612599,CR613664,CR620353 NP_065695,CAB92287,EAW68607,EAW68608,EAW68609,CAF86738,CAH05345,BAC77370,BAC11131,BAH13331,BAG35894,BAH14587,AAQ89428,AAH15884,AAH40124,Q543A1,Q7Z649,Q9NQ34 Hs.501853 C11orf15 transmembrane protein 9B protein-coding 732153 TMF1 TATA element modulatory factor 1 1580863 18305892,1409643,10428808,18029348,19330832,17698061,16964243,16713569,15128430,14702039,12477932,12165860,12044884,9742951,8889548,19596235,20379614 7110 AC109587,CH471055,AB209109,AK021741,AK096365,AK299020,AK312697,AL040699,BC008454,BC033771,BC117418,BC126123,BC143840,BU689613,L01042,NM_007114 NP_009045,EAW65468,EAW65469,BAD92346,BAG61099,AAH33771,AAI17419,AAI26124,AAI43841,AAD54608,P82094,Q6PII6 Hs.267632 ARA160|TMF TATA element modulatory factor|androgen receptor coactivator 160 kDa protein|androgen receptor-associated protein of 160 kDa protein-coding 1343102 TMIE transmembrane inner ear This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq] 1599441,1599439,1580863 16389551,15489334,14727813,12477932,12145746,12140191,8944017,8889548,8681137,8593615,19438934,20206386 1599439 259236 NM_147196,NG_011628,AC134504,CH471055,AY081842,BC126258,BC126260,BM696323,F22661 NP_671729,EAW64781,AAL89820,AAI26259,AAI26261,Q8NEW7 Hs.185777 DFNB6 transmembrane inner ear expressed protein|transmembrane inner ear protein protein-coding 1604448 TMIGD1 transmembrane and immunoglobulin domain containing 1 14702039,12975309,12477932 388364 AC087644,CH471159,AK172838,AK290266,AY358153,BC137201,BC137202,NM_206832 NP_996663,EAW51226,BAD18803,BAF82955,AAQ88520,AAI37202,AAI37203,Q6UXZ0 Hs.371005 TMIGD|UNQ9372 AWKS9372|transmembrane and immunoglobulin domain-containing protein 1 protein-coding 1606734 TMIGD2 transmembrane and immunoglobulin domain containing 2 15489334,12975309,12477932 126259 NM_144615,AC008616,CH471139,AY358964,BC015655,BU629751,NM_001169126 NP_653216,EAW69239,EAW69240,AAQ89323,AAH15655,Q96BF3,NP_001162597 Hs.263928 MGC23244 transmembrane and immunoglobulin domain-containing protein 2 protein-coding 736195 TMLHE trimethyllysine hydroxylase, epsilon Epsilon-N-trimethyllysine hydroxylase (EC 1.14.11.8) catalyzes the conversion of epsilon-N-trimethyllysine to beta-hydroxy-N-epsilon-trimethyllysine in the first step of L-carnitine biosynthesis (Vaz et al., 2001 [PubMed 11431483]).[supplied by OMIM] 1580863 16344560,11431483,17408883,16381901,15772651,15754339,15489336,15489334,14702039,12477932,11256614,11076863,8908511 55217 DA323339,DB174485,NG_021318,NM_001184797,NM_018196,BX276110,BX323057,CH471247,AF373407,AK001589,AK291694,AK304830,AK310667,BC009673,BC025269,CR457265,CR595358,CR610079,CR610946 NP_001171726,NP_060666,CAH71441,CAH71442,EAW55873,EAW55874,EAW55875,AAL01871,BAA91775,BAF84383,BAG65575,AAH25269,CAG33546,Q9NVH6,CAL38074 Hs.133321 BBOX2|FLJ10727|TMLD|TMLH|XAP130 TML hydroxylase|TML-alpha-ketoglutarate dioxygenase|butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2|epsilon-trimethyllysine 2-oxoglutarate dioxygenase|epsilon-trimethyllysine hydroxylase|trimethyllysine dioxygenase, mitochondrial protein-coding 1605431 TMOD1 tropomodulin 1 16434395,16297372,15489334,15164053,15095301,14741341,14702039,12477932,11964245,11054557,11016930,10871039,8954802,8661028,8262158,8002995,7962203,1370827,16344560,8619474,9110174 7111 NM_003275,AF288155,AL162385,CH471105,AK095748,AK314533,BC002660,M77016,AF131836,BU783086,DA015088,NM_001166116 NP_003266,AAG30124,CAI12854,CAI12855,EAW58845,EAW58846,BAG53119,BAG37124,AAH02660,AAA61224,P28289,Q5T7W3,ABM83953,ABM87270,NP_001159588 Hs.404289,Hs.723236 D9S57E|ETMOD|TMOD E-Tmod|OTTHUMP00000021743|OTTHUMP00000021744|e-tropomodulin|erythrocyte tropomodulin|tropomodulin-1 protein-coding 1351754 TMOD2 tropomodulin 2 (neuronal) This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1580863 10662549,16344560,15489334,15095301,12477932,8886980,14702039,17207965 29767 NM_014548,NM_001142885,AC026770,AC090971,CH471082,AF177169,AK292733,AK293823,BC036184,BC064961,DA808222,AB073658,AK021496,AK025346,AK124907,BC041940 NP_055363,NP_001136357,EAW77428,EAW77429,AAF31668,BAF85422,BAG57227,AAH36184,AAH64961,Q4G0W6,Q9NZR1,ADQ32555 Hs.513734 MGC39481|N-TMOD|NTMOD neuronal tropomodulin|tropomodulin-2 protein-coding 1322266 TMOD3 tropomodulin 3 (ubiquitous) 1580863 10662549,17928307,17081983,17012745,15489334,15095301,12707310,12477932,18029348,19615732,8889548,19321449 29766 AF237631,AK310344,AK312569,AL137543,BC020542,BX647277,CR611644,NM_014547,AC090971,AF177171,BM975185,AK025704,CR621610 AAF31670,BAG35464,AAF45299,CAB70801,AAH20542,CAI46036,Q5HYL6,Q9NYL9,NP_055362 Hs.4998,Hs.618671 UTMOD tropomodulin-3|ubiquitous tropomodulin protein-coding 1319001 TMOD4 tropomodulin 4 (muscle) 1580863 10662549,15489334,14702039,12477932,11716785,10497209,11016930,17207965 29765 NM_013353,AF321183,AF393375,AL592424,CH471121,AF165217,AF177173,AK092700,AK313280,BC017810,BX647346,DC385872,AK300675 NP_037485,AAK06765,AAM73676,CAI16383,CAI16384,EAW53463,EAW53464,EAW53465,AAF01277,AAF31672,BAC03951,BAG36088,AAH17810,Q5JR82,Q8N706,Q9NZQ9,ADQ32088,BAH13325 Hs.709681 DKFZp779I0852|SK-TMOD actin-capping protein|skeletal muscle tropomodulin|tropomodulin-4 protein-coding 735785 TMPO thymopoietin 1580863 20562859,11435115,11034899,10984438,10806084,10430029,10393804,9707448,9490046,9461618,9110174,8743987,8619474,7703909,7517549,6364989,2158125,302007,8324822,17207965,8530026,17284516,18403046,17364180,17227891,17213199,17081983,16760672,16713569,16606692,16247757,16083285,15546916,15489334,15302935,12950172,12538639,12477932,12475961,11591818,11500367,19913121,20628086,16344560,17474147,18029348,19929986,20237496 7112 NM_001032283,NM_001032284,NM_003276,AC013418,CH471054,U18269,U18270,U18271,AB209297,AF070631,AF113682,AK299708,AK315221,BC050383,BC053675,EF028063,S76736,U09086,U09087,U09088,AA992204,AI055921,BG676381,BM802949,BM991833,BP423544,BQ232508,BU932961,DB239672,NG_021393 ADQ32571,NP_001027454,NP_001027455,NP_003267,EAW97589,EAW97590,EAW97591,EAW97592,EAW97593,EAW97594,AAB60434,AAB60433,AAB60435,BAD92534,AAC25390,AAF29583,BAG61609,AAH53675,ABL61272,AAB33958,AAB60329,AAB60330,AAB60331,P42166,P42167,Q59G12,Q9P1N8 Hs.11355 CMD1T|LAP2|LEMD4|MGC61508|PRO0868|TP LEM domain containing 4|TP alpha|TP beta/gamma|lamina-associated polypeptide 2|thymopoietin|thymopoietin-related peptide isoform alpha|thymopoietin-related peptide isoforms beta/gamma protein-coding 1353581 TMPOP1 thymopoietin pseudogene 1 387098 2304158 TMPPE transmembrane protein with metallophosphoesterase domain 12477932 643853 NM_001039770,NM_001136238,AC112211,AK126979,AK128242,AW103036,BC136872,BC136873 NP_001034859,NP_001129710,BAC86774,BAC87349,AAI36873,AAI36874,Q6ZT21 Hs.443031 FLJ45032|FLJ46376 transmembrane protein with metallophosphoesterase domain protein-coding 1605232 TMPRSS11A transmembrane protease, serine 11A 15095404,19826048,19394797,19052822,17971341,15328353,12838346,12477932 339967 NM_182606,NM_001114387,AC096653,AC096727,CH471057,AF071882,AK131518,AK292950,AY498712,BC111796,BN000133 NP_872412,NP_001107859,EAX05560,AAD41463,BAD18660,BAF85639,AAS78642,AAI11797,CAD67985,Q6ZMR5 Hs.450110 ECRG1|MGC133183 OTTHUMP00000219019|OTTHUMP00000219020|airway trypsin-like protease 1|epidermal type II transmembrane serine protease|epidermal type-II transmembrane serine protease|esophageal cancer-susceptibility gene 1 protein|transmembrane protease serine 11A protein-coding 1606722 TMPRSS11B transmembrane protease, serine 11B 11076863,17975119,16381901,15489336,12477932,11230166,19023099 132724 NM_182502,AC098799,CH471057,AK290904,AK310210,AL833167,BC126195,BX537945 NP_872308,EAX05569,BAF83593,CAD91168,AAI26196,CAD97913,Q86T26,CAL38608,ADR83164 Hs.407122 DKFZp686L1818 airway trypsin-like protease 5|transmembrane protease serine 11B protein-coding 3103405 TMPRSS11BNL TMPRSS11B N terminal-like 401136 AC098799,AK123556,CH471057,NM_001129907 B3KVV0,BAG53912,EAX05568,NP_001123379 Hs.652046 FLJ41562 TMPRSS11B N-terminus-like protein|transmembrane protease serine 11B-like protein protein-coding 3340240 TMPRSS11CP transmembrane protease, serine 11C, pseudogene 15328353,18215125,19487698,20210993,9847074 100381178 AC079880,NG_016735 pseudo 1606328 TMPRSS11D transmembrane protease, serine 11D This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq] 9565616,16973594,16336275,16199437,15489334,15102084,14702039,12630574,12477932,11326745,9070615 9407 NM_004262,AC079880,AC096653,BX649007,CH471057,AB002134,AK094054,AK290289,AK296853,AL603214,BC033295,BC125195,BC125196 NP_004253,AAY40996,EAX05559,BAA28691,BAF82978,BAG59419,AAI25196,AAI25197,O60235,Q4W5K4 Hs.132195 HAT|MGC150587|MGC150588 airway trypsin like protease|airway trypsin-like protease|transmembrane protease serine 11D protein-coding 1606302 TMPRSS11E transmembrane protease, serine 11E 17388811,16344560,15489334,15328353,12975309,12477932,11161383,15815621,9847074 28983 NM_014058,AC074378,AC079749,CH471057,AF064819,AK313859,AY359017,BC113412,BC113414,DB013544,AC019173,AC140484,AK292787 NP_054777,AAY41025,AAY40995,EAX05573,AAF04328,BAG36587,AAQ89376,AAI13413,AAI13415,Q4W5P3,Q9UL52,BAF85476,ADR82988 Hs.201877 DESC1|FLJ75331|FLJ94490|MGC141972|MGC141974|TMPRSS11E2 serine protease DESC1|transmembrane protease serine 11E|transmembrane protease serine 11E2|transmembrane protease, serine 11E-like|transmembrane protease, serine 11E2 protein-coding 1641973 TMPRSS11E2 transmembrane protease, serine 11E2 9847074 729884 NM_001099662,AC019173,AC074378,AC140484,AK292787 NP_001093132,BAF85476,A6NL71 Hs.645299 protein-coding 1602625 TMPRSS11F transmembrane protease, serine 11F 16344560 389208 NM_207407,AC096727,AC107054,CH471057,AK122625,DA441628 NP_997290,EAX05563,BAC85495,Q6ZWK6 Hs.677557 FLJ16046 airway trypsin-like protease 4|transmembrane protease serine 11F protein-coding 1606922 TMPRSS12 transmembrane protease, serine 12 12477932,17207965,20379614 283471 NM_182559,AC008121,AC013244,CH471111,AA884376,BC035123,BC048112,CR596226,DB458497 NP_872365,EAW58152,EAW58153,AAH48112,Q86WS5,ADQ32512 Hs.125571 MGC57341 transmembrane protease serine 12|transmembrane protease, serine 12 protein-coding 1604778 TMPRSS13 transmembrane protease, serine 13 17981585,16554811,14702039,12477932,11267681,20219906,20977675 84000 AP002962,CH471065,AB048796,AB048797,AK027798,AK300283,AY190317,BC018715,BC114928,NM_001077263,CR596543,CR613669 NP_001070731,EAW67338,EAW67339,EAW67340,EAW67341,EAW67342,BAB39741,BAB39742,BAB55376,BAG62041,AAO38062,AAI14929,Q1RMF8,Q9BYE2 Hs.266308 MSP|MSPL|MSPS|TMPRSS11 membrane-type mosaic serine protease|mosaic serine protease|transmembrane protease serine 13|transmembrane protease, serine 11 protein-coding 1354092 TMPRSS2 transmembrane protease, serine 2 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 20631123,20442300,17207965,20800881,21040948,21068237,20382709,9373149,8125298,9325052,19190343,19158246,19147579,19029822,18922926,18694509,18676740,18583469,18562527,18519767,18483239,18474293,18385909,18172298,18065961,17804708,17654723,17632455,17584912,17390040,17367471,17032499,16973594,16820092,16585160,16575875,15537383,15489334,15342556,15065083,12477932,11414763,11322890,11245484,11169526,10830953,10485450,18519769,18029348,19242826,19396154,19465903,19494719,19584163,19597533,19649210,19664128,19762545,19933109,20068566,20118910,21036922 7113 NM_005656,NM_001135099,AP001610,CH471079,AA904080,AF123453,AF270487,AF318374,AF329454,AK123948,AK222784,AK291813,AK296860,AK313338,BC015819,BC035623,BC051839,BP276431,DC382934,EU090249,U75329,HM245389,HM245390 ADQ33108,NP_005647,NP_001128571,EAX09596,EAX09597,EAX09598,EAX09599,AAD37117,AAK29280,AAL55881,AAK53559,BAD96504,BAF84502,BAH12445,BAG36142,AAH51839,AAC51784,O15393,Q8WYS7,Q96T73 Hs.439309 FLJ41954|PP9284|PRSS10 OTTHUMP00000207916|epitheliasin|serine protease 10|transmembrane protease serine 2 protein-coding 1320861 TMPRSS3 transmembrane protease, serine 3 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, a LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1599443,1580863,2325152 11068177,11137999,12393794,16780588,17981648,17551081,16344560,16169070,16021470,15489334,15447792,14702039,12975309,12920079,12477932,11907649,11462234,11424922,10830953,10825129,8651303 1599443,2325152 64699 NM_032405,NG_011629,NR_027348,AP001623,CH471079,AB038157,AB038158,AB038159,AB038160,AF201380,AF267741,AI251446,AK131212,AK172842,AY358458,AY633572,BC074846,BC074847,CR590125,DB217517,NM_024022 NP_076927,NP_115781,EAX09564,EAX09565,EAX09566,EAX09567,EAX09568,BAB20077,BAB20078,BAB20079,BAB20080,AAG37012,AAL56664,BAD18806,AAQ88823,AAT66641,AAH74846,AAH74847,P57727,Q5USC7,Q8WY52 Hs.208600 DFNB10|DFNB8|ECHOS1|TADG12 OTTHUMP00000109346|serine protease TADG-12|serine protease TADG12|transmembrane protease serine 3|tumor-associated differentially-expressed gene 12 protein protein-coding 1312821 TMPRSS4 transmembrane protease, serine 4 This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 17207965,10825129,18029348,19158246,17968309,15489334,15342556,14702039,12975309,12477932,8889548,20118200,20631123 56649 NM_019894,NM_001083947,EF445038,NG_011858,AP000665,AP002800,CH471065,AF179224,AF216312,AK172766,AK290361,AK296855,AK303173,AK304113,AK304215,AK308434,AY358530,BC004855,BC011703,BC012752,BE736425,BP220493,BU685753,NM_001173551,NM_001173552 ADQ32399,NP_063947,ACA06088,NP_001077416,EAW67345,EAW67346,EAW67347,EAW67348,EAW67349,EAW67350,AAF74526,AAF31436,BAD18749,BAF83050,BAH12444,BAH13911,BAH14107,BAH14136,AAQ88894,AAH04855,AAH11703,Q9NRS4,NP_001167022,NP_001167023 Hs.161985 CAPH2|MT-SP2|TMPRSS3 channel-activating protease 2|membrane-type serine protease 2|transmembrane protease serine 4|transmembrane serine protease 3|type II membrane serine protease protein-coding 732836 TMPRSS5 transmembrane protease, serine 5 This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. [provided by RefSeq] 1580863 12484779,12477932,11741986 80975 AP002436,NM_030770,AP003402,CH471065,AB028140,AI056603,AK294313,AK295366,AL538140,BC028065,BC047222,BC121802,BC121803 NP_110397,EAW67226,EAW67227,EAW67228,BAB20375,BAH11733,BAH12047,AAI21803,AAI21804,Q0P513,Q0P514,Q9H3S3 Hs.46720 MGC141886|MGC148044|SPINESIN adrenal mitochondrial protease|transmembrane protease serine 5 protein-coding 1316154 TMPRSS6 transmembrane protease, serine 6 The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. [provided by RefSeq] 1580863 19084217,18976966,18603562,18449907,18408718,17981570,17575220,16533768,15489334,15461802,14702039,12975309,12784999,12477932,10591208,20587610,20232450,20738301,21149283,12149247,19377077,19592582,19708871,19818657,19820697,19820698,19820699,19862010,19880490,19907145,19853236,20937842,20704562,20858683,20927387 164656 NM_153609,AL022314,AY055383,CH471095,AJ319876,AY055384,AY358398,BC039082,CR456446,NG_012856 NP_705837,CAQ07359,CAQ07360,CAQ07361,CAQ07362,CAQ07363,CAQ07364,AAL16413,EAW60141,EAW60142,EAW60143,CAC85953,AAL16414,AAQ88764,AAH39082,CAG30332,Q8IU80,CAK54475,CAK54774 Hs.370885 IRIDA OTTHUMP00000197780|OTTHUMP00000197781|matriptase-2|membrane-bound mosaic serine proteinase matriptase-2|transmembrane protease serine 6|type II transmembrane serine protease 6 2302756,2302758,2302765 MAMTS6_H,MAMTS5_H,MAMTS4_H protein-coding 1312220 TMPRSS7 transmembrane protease, serine 7 1580863 16641997,15489334,14702039,12838346,12477932 344805 NR_026734,NM_001042575,AC024887,AK131211,BC117322,BN000125 NP_001036040,BAD18401,AAI17323,CAD67577,Q7RTY8 Hs.435490 OTTHUMP00000211537|matriptase-3|transmembrane protease serine 7|transmembrane serine protease 7|type II transmembrane serine protease 7 protein-coding 2303662 TMPRSS8 transmembrane protease, serine 8 homolog (mouse) pseudogene 12477932,10786627,14702039,20210993 124221 BC041609,BC042597,AK122946,NR_026864,AC003965,AC005361,CH471112 EAW85461,EAW85457,EAW85458,EAW85459,EAW85460 Hs.434388 Disp|FLJ16659|MGC52282|TMPRSS8|TMPRSS8P pseudo 1319995 TMPRSS9 transmembrane protease, serine 9 16872279,14702039,12886014,20379614 360200 NM_182973,AC011522,AC011542,CH471139,AB109390,AJ488946,AJ488947,AK131261 NP_892018,EAW69382,BAF02295,CAD35758,CAD35759,BAD18439,Q0X0F2,Q7Z410,AAI40387 Hs.465560 FLJ16193 polyserase 1|polyserase-1|polyserase-I|polyserine protease 1|transmembrane protease serine 9|transmembrane serine protease 9 protein-coding 731359 TMSB10 thymosin beta 10 19337364,19194824,16916647,16786322,16012174,15665289,15489334,15254683,14741341,12914774,12481941,12477932,11527208,11472367,10487837,8425765,3365256,2169566,2071228,1744129,1627460,1582498,18789485 9168 NM_021103,AC022210,CH471053,M92383,AK130949,AK311952,AY453400,BC016025,BC016731,BC107889,CR595675,M20259,M92381,S54005 NP_066926,AAY24191,EAW99547,EAW99548,AAA36746,BAG34892,AAS47517,AAH16025,AAH16731,AAA36744,AAC41691,AAB25225,P63313,Q596K9,ACE87214,ACE86535,ACE87606,ACE86919 Hs.446574 MIG12|TB10 migration-inducing gene 12|migration-inducing protein 12|thymosin beta-10 protein-coding 1602496 TMSB15A thymosin beta 15a 19296525,18754322,14702039,17888914,17567946,17388661,15772651,15489334,12665801,12477932,9039501,8946830 11013 NM_021992,AL035609,CH471190,AF086495,BC000183,BG829126,BU599402,D82345 NP_068832,CAC18959,EAW54739,AAH00183,BAA11556,P0CG34 Hs.56145 TMSB15|TMSB15B|TMSL8|TMSNB|Tb15|TbNB NB thymosin beta|Thymosin beta-15B|thymosin beta-15A|thymosin, beta, identified in neuroblastoma cells|thymosin-like 8|thymosin-like protein 8 protein-coding 1605543 TMSB15B thymosin beta 15B 12665801,15772651,19296525,17567946,14702039,12477932 286527 NM_194324,AL034485,CH471120,AK090973,AK291479,AK311771,BC019900,BC029803,BC035660,BC054476,BC093093,BQ011701 P0CG35,NP_919305,EAX02764,BAF84168,BAG34714 Hs.56145,Hs.675540,Hs.709594 MGC39900|Tbeta15b thymosin beta-15B|thymosin beta15b protein-coding 736781 TMSB4X thymosin beta 4, X-linked This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq] 20161756,20691219,17567947,17495251,17495244,17495243,17200658,16956606,16949646,16515784,16423999,16364925,16272158,16010977,15565145,15466884,15311936,15235586,15163409,14702039,14592829,12962156,12852258,12477932,12163032,11812134,11311852,10848969,10777749,10611475,9647778,9381176,9194528,9153421,8630056,8617195,8252614,6838210,6548414,3500230,2998351,2677145,2004759,1999398,1584803,1330091,17967441,19337364,18519035,18094619,17984099,17600285,17600283,15698487,16169070,20128033,20566622,20821256 7114 BC070248,AC139705,AJ295158,CH471074,AK055976,AK057827,AK311747,AV715954,BC001631,BC016732,BC022857,BC061586,BC062436,BC064954,NM_021109,BC070249,BC083509,BC092437,BC101790,BC101792,BC104464,BC104465,BC104666,BC107789,BC128102,BC128103,BC139925,BC141975,BC141976,BC151215,BT007090,M11948,M17733,X02493 NP_066932,CAC43317,EAW98810,EAW98811,EAW98812,EAW98813,EAW98814,BAG34690,AAH01631,AAH16732,AAH22857,AAH61586,AAH62436,AAH64954,AAH83509,AAH92437,AAI01791,AAI01793,AAI04465,AAI04466,AAI04667,AAI28103,AAI28104,AAI39926,AAI41976,AAI41977,AAI51216,AAP35753,AAA36745,CAA26323,P62328,Q0P5N8,Q0P5P4,AAH70248 Hs.437277 FX|PTMB4|TB4X|TMSB4 OTTHUMP00000022927|prothymosin beta-4|t beta-4|thymosin beta-4|thymosin, beta 4, X chromosome|thymosin, beta 4, X-linked protein-coding 1354108 TMSB4Y thymosin beta 4, Y-linked This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq] 1580863 8838802,19369144,16189514,15557202,15489334,12815422,12477932,9847074,9381176,8416954 9087 NM_004202,AC006371,CH471155,AF000989,BC022482,BC119763,BC119764 NP_004193,AAD54509,EAW91614,AAC51836,AAI19764,AAI19765,O14604 Hs.159201 MGC26307|TB4Y thymosin beta-4, Y isoform|thymosin beta-4, Y-chromosomal|thymosin, beta 4, Y chromosome protein-coding 1349163 TMSL1 thymosin-like 1 (pseudogene) 12477932 7115 NG_004714,AL445669,BC101199,BC101200 Q08EQ4 Hs.655548 TMSL1 pseudo 1352522 TMSL2 thymosin-like 2 (pseudogene) 12477932,2004759 7116 NG_004719,AC010907,BC104196,BC104197,BC113076 Q2KHM7 Hs.659140 MGC125884|MGC125885|TMSL2 pseudo 1343307 TMSL3 thymosin-like 3 2004759 7117 NM_183049,AC019188,CR596371,CR605307,CR621963,CR624038 NP_898870,A8MW06 Hs.555895 OTTHUMP00000219612|OTTHUMP00000219613|thymosin beta-4-like protein 3 protein-coding 1605430 TMSL4 thymosin-like 4 (pseudogene) 7118 NG_004715,AL359091 CAI13489 pseudo 1353589 TMSL5 thymosin-like 5 (pseudogene) 7119 NG_002996,AP001591 pseudo 1605429 TMSL6 thymosin-like 6 (pseudogene) 2004759,12477932 7120 NG_006508,AL133228,BC112282 A9Z1Y9 Hs.381178 TMSB4L|dJ1071L10.1 pseudo 1348395 TMSL7 thymosin-like 7 (pseudogene) 2004759 7121 NG_002997,AL445164 pseudo 1605326 TMTC1 transmembrane and tetratricopeptide repeat containing 1 20445134,12477932,15489334,14702039,19913121,20628086,17903295,20379614,20877624 83857 BG413338,NM_001193451,NM_175861,AC009320,AC009510,AC012151,AC022078,CH471094,AF319520,AF433169,AK022989,AK055962,AK123619,AK125140,AK127297,AL832328,BC007383,BC017984,BC028716,BC039460,BC042083,GQ865601 NP_001180380,NP_787057,EAW96601,AAK32121,AAQ04260,BAB71057,BAG53923,BAC86923,AAH28716,AAH42083,Q5K675,Q8IUR5,ACX30004 Hs.401954 ARG99|FLJ31400|FLJ41625|OLF|TMTC1A transmembrane and TPR repeat-containing protein 1|transmembrane and tetratricopeptide repeat containing 1A protein-coding 1605852 TMTC2 transmembrane and tetratricopeptide repeat containing 2 11076863,11256614,18519826,16381901,15489336,15489334,14702039,12477932,11230166,20662065,19386601,19625618,20379614 160335 NM_152588,AC079595,AC090667,AC090680,AC091214,AC117375,CH471054,AK074634,AK299771,AK315285,AL834509,BC071614,BC093852,BC093854,BC098572,BC143378 NP_689801,EAW97384,EAW97385,BAC11102,BAH13125,BAG37694,CAD39165,AAH93852,AAH93854,Q8N394,CAL38019 Hs.577775 DKFZp762A217 transmembrane and TPR repeat-containing protein 2 protein-coding 1605568 TMTC3 transmembrane and tetratricopeptide repeat containing 3 16381901,15489336,15489334,14702039,11230166,11076863,12477932 160418 NM_181783,AC087865,AC091516,AC127901,CH471054,AJ697717,AK023165,AK074973,AK290436,AK302755,AK310375,AK310393,BC117175,BC117177,BG287027,BX538169,CR737828,CR749244,CR749309,CR933632,CR936640,NG_021187 NP_861448,EAW97415,CAG26973,BAC11325,BAF83125,BAG63967,AAI17176,AAI17178,CAD98046,CAH18100,CAH18164,CAI45938,CAI56780,Q6ZXV5,CAL38672,ADR83426 Hs.331268 DKFZp686C0968|DKFZp686M1969|DKFZp686O22167|DKFZp686O2342|FLJ90492|SMILE transmembrane and TPR repeat-containing protein 3 protein-coding 1606198 TMTC4 transmembrane and tetratricopeptide repeat containing 4 16381901,16344560,16094384,15489336,15489335,15489334,15057823,14702039,12477932,11991713,11230166,11076863 84899 AK092653,AK290345,AW513848,BC018707,BG830268,BX647956,BX648008,CV029196,DA368450,NM_001079669,NM_032813,AL359085,CH471085,AF339792,AK027530,AK056409,AK299859 BAF83034,AAH18707,Q5T4D3,CAL37901,NP_001073137,NP_116202,CAI11004,CAI11005,CAI11006,CAI11007,EAX09040,EAX09041,EAX09042,EAX09043,BAB55179,BAH13152 Hs.726107 FLJ14624|FLJ22153 OTTHUMP00000215105|transmembrane and TPR repeat-containing protein 4 protein-coding 1349176 TMUB1 transmembrane and ubiquitin-like domain containing 1 18029348,19254477,16344560,16014383,15489334,12975309,12690205,12477932 83590 BC033182,CR593124,CR593449,CR598305,CR604089,CR611070,CR619155,CR624473,DA355717,NM_001136044,NM_031434,AACC02000108,AC010973,CH471173,AK314035,AY037155,AY358481,AY603380,BC000936 AAH00936,AAH33182,Q9BVT8,NP_001129516,NP_113622,EAL24501,EAW54030,EAW54031,EAW54032,BAG36745,AAK67645,AAQ88845,AAU00156 Hs.726215 C7orf21|MGC5442|SB144 OTTHUMP00000213152|OTTHUMP00000213155|OTTHUMP00000213156|hepatocyte odd protein shuttling protein|transmembrane and ubiquitin-like domain-containing protein 1|ubiquitin-like protein DULP|ubiquitin-like protein SB144 protein-coding 1604292 TMUB2 transmembrane and ubiquitin-like domain containing 2 16381901,15498874,15489336,15489334,14702039,12975309,12477932,11230166,11076863,9110174,8619474 79089 NM_001076674,NM_024107,NM_177441,AC004596,CH471178,AF289564,AF370373,AK021759,AK096631,AK294198,AL533563,AL538440,AL833899,AY007092,AY358780,BC001792,BC004306,BC063489,BI906577,CR591425,CR594332,CR600740,CR601571,CR601799,CR611525,CR611823,CR622157,CR623781 BAG53343,NP_001070142,NP_077012,NP_803190,EAW51624,AAL55748,AAQ15209,BAB13886,BAG57512,CAD38755,AAQ89140,AAH01792,AAH04306,AAH63489,Q71RG4,Q8WZ28,CAL38416 Hs.181391 FP2653|MGC3123 transmembrane and ubiquitin-like domain-containing protein 2 protein-coding 1318232 TMX1 thioredoxin-related transmembrane protein 1 TXNDC1 is a thioredoxin (TXN; see MIM 187700)-related protein with disulfide reductase activity (Matsuo et al., 2001 [PubMed 11152479]).[supplied by OMIM] 11152479,17081983,16344560,16303743,15489334,15302935,12975309,12508121,12477932,18029348,19741092 81542 DA203669,BU754378,AL591807,CH471078,AB048246,AK075395,AK303134,AK312905,AL080080,AY358640,BC016769,BC032834,BC036460,BC050366,BC056874,NM_030755 Q9H3N1,ABM82600,ABM85786,NP_110382,EAW65678,EAW65679,BAB20629,BAC11593,BAG64239,BAG35751,CAB45700,AAQ89003,AAH36460,AAH56874 Hs.125221 DKFZp564E1962|PDIA11|TMX|TXNDC|TXNDC1 protein disulfide isomerase family A, member 11|thioredoxin domain containing|thioredoxin domain containing 1|thioredoxin domain-containing protein 1|thioredoxin-related transmembrane protein 1|transmembrane Trx-related protein protein-coding 1603042 TMX2 thioredoxin-related transmembrane protein 2 16303743,12975309,12670024,12477932,10810093,9373149,8125298 51075 NM_015959,NM_001144012,AP000662,AP001931,CH471076,AF059753,AF132965,AK075359,AK223058,AK297688,AK298065,AK312990,AY358501,AY451236,AY451237,BC000666,BC093062,CD690929,CR590068,CR591318,CR594873,CR595161,NR_026593,CR595701,CR599464,CR599752,CR601411,CR602553,CR602703,CR604249,CR609121,CR609173,CR611672,CR611751,CR613099,CR613192,CR614679,CR617247,CR625628,AL037895,BI762960,BQ686696,NR_037645 NP_057043,NP_001137484,EAW73777,EAW73778,EAW73779,EAW73780,AAG43122,AAD27740,BAC11569,BAD96778,BAH12650,BAH12716,BAG35827,AAQ88865,AAS66642,AAH00666,AAH93062,Q9Y320 Hs.654965 CGI-31|DKFZp781O2021|MGC111151|PDIA12|PIG26|TXNDC14 cell proliferation-inducing gene 26 protein|growth-inhibiting gene 11|proliferation-inducing gene 26 protein|protein disulfide isomerase family A, member 12|thioredoxin domain containing 14|thioredoxin domain-containing protein 14|thioredoxin-related transmembrane protein 2 protein-coding 1348440 TMX3 thioredoxin-related transmembrane protein 3 737633,1580863 11230166,11076863,19240061,17881353,16381901,15623505,15489336,15489334,14702039,12477932,11347906,20485507,19615732 737633 54495 AC040896,CH471117,AB058733,AK000800,AK025025,AK122715,AK295551,AK307269,AK310389,AL832341,AL832356,BC007690,BC018981,BC032325,BC093792,NM_019022,BC093794,BC107422,BC143400,BX647846 AAH93792,NP_061895,EAW66508,EAW66509,BAB47459,BAA91381,BAG53687,BAG58455,AAH32325,AAH93794,AAI07423,Q3B7X1,Q96JJ7,CAL38084,CAL38173 Hs.440534 FLJ20793|KIAA1830|PDIA13|TXNDC10 protein disulfide isomerase family A, member 13|protein disulfide-isomerase TMX3|thioredoxin domain containing 10|thioredoxin domain-containing protein 10 protein-coding 1603023 TMX4 thioredoxin-related transmembrane protein 4 18029348,17081983,16303743,15489334,14702039,12975309,12477932,11780052,10574461,9373149,8125298,19811453,20056998 56255 NM_021156,AL021396,CH471133,CS051207,AB032988,AK074838,AK075404,AK226005,AL118494,AY359004,BC021964,BC033787,BC044777,CR598899,CR609977,CR622965 NP_066979,CAC17521,EAX10377,CAI72099,BAA86476,BAC11237,BAC11599,CAB56344,AAQ89363,AAH33787,Q9H1E5 Hs.169358 DJ971N18.2|KIAA1162|PDIA14|TXNDC13 protein disulfide isomerase family A, member 14|thioredoxin domain containing 13|thioredoxin domain-containing protein 13|thioredoxin-related transmembrane protein 4 protein-coding 1354144 TNC tenascin C 1580863,4889566,4889589,4889573,4889600,4889561,4889568,4889569,4889572,4889562,4889567,4889609,4889571,4889599,4889619,4889612,4889595,4889614,4889570,4889598,4889565,4889591,4889564,4889618,4889594 1719530,1707164,1385416,1279805,7693733,8798654,7523411,7694284,7559467,20651280,20653781,20613589,20727496,20729912,21091771,2466295,18794852,18757408,18751374,18695899,18504437,18502153,18353721,18305139,18177748,18173448,18062933,18061975,18029348,17983425,17901052,17681310,17616673,17584833,17311283,17202312,17188391,17188181,17181107,17083689,17013087,16996565,16926030,16782755,16493581,16461331,16388320,16335952,16292494,16259977,16245312,16157221,16115819,16100012,16091738,15983124,15892123,15816617,15558324,15530854,15511229,15469480,15455729,15342556,15239346,15178565,15073129,15059978,15024713,15001984,14981900,14618612,1704365,16891397,19561617,19484261,19459858,19405959,19287959,19147558,19070467,18815154,12759243,12557222,12477932,12388760,12351514,12209613,12182416,12168675,11948127,11920587,11850444,11714809,11668187,11470832,11313993,10953015,10103110,9565552,9341124,9314546,8824254,8548761,7531707,7524681,7499434,19944367,15844597,19326143,19581738,19688689,19721293,19748582,19887451,20042668,20083228,20107185,20346360,20379614,20453000,7541634,8769660,19589197,20232238,20583170,20622113 4889566,4889589,4889573,4889600,4889561,4889568,4889569,4889572,4889562,4889609,4889571,4889599,4889619,4889612,4889595,4889614,4889570,4889598,4889565,4889591,4889564,4889618,4889594 3371 NM_002160,AL162425,CH471090,AB210038,AK304015,BC151843,BP278052,BQ575939,BQ880861,BX641111,CR623953,CX871573,M24630,M55618,X56160,X78565,GU473235 NP_002151,CAI15110,EAW87434,EAW87435,BAE06120,BAG64930,AAI51844,CAE46051,AAA52703,AAA88083,CAA39628,CAA55309,P24821,Q4LE33,Q6MZI1,ADD10730,Q15566 Hs.143250 150-225|GMEM|GP|HXB|JI|MGC167029|TN|TN-C GP 150-225|cytotactin|glioma-associated-extracellular matrix antigen|hexabrachion (tenascin)|myotendinous antigen|neuronectin|tenascin|tenascin-C isoform 14/AD1/16 protein-coding 1344192 TNF tumor necrosis factor (TNF superfamily, member 2) This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq] 1580310,1580604,1580863,1580316,1580318,2292150,1626412,2315113,2315115,2315119,2313255,2315114,2315116,2313253,2315111,2315112,1580315,1580296,1580320,1580322,1580208,1580311,1580205,1580209,1624967,1580313,1580214,1580321,1580210,1580314,1580317,1580207,1580312,4143415,4143421,4143432,4143417,4143229,4143273,4143425,4143435,4143440,4144094,4143441,4142792,4143238,4143391,4142851,4143383,4143397,4143264,4142805,4142833,4143236,4143470,4891465,4144093,4143378,4144784,4145506,4145512,4145665,4143254,4143258,4143270,4145715,4143476,4143479,4143466,4145765,4891398,4144102,4145714,4888519,4145366,4142854,4143474,4145508,4144091,4889454,4143272,4145454,4891154,4841878,4142809,4144156,4142816,4142840,4143247,4143280,4143422,4143424,4143427,4143443,4143478,4889847,4142832,4142846,4143369,4142855,4143442,4142835,4143386,4143388,4143395,4142802,4143240,4143375,4142788,4142857,4143372,4143374,4142793 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1580310,1580604,1580316,1580318,2292150,1626412,2315113,2315115,2315119,2313255,2315114,2315116,2313253,2315111,2315112,1580315,1580296,1580320,1580322,1580208,1580311,1580209,1624967,1580313,1580214,1580321,1580210,1580314,1580317,1580207,1580312,4143415,4143421,4143432,4143417,4143229,4143273,4143425,4143435,4143440,4144094,4143441,4142792,4143238,4143391,4142851,4143383,4143397,4143264,4142805,4142833,4143236,4143470,4891465,4144093,4143378,4144784,4145506,4145512,4145665,4143254,4143258,4143270,4145715,4143476,4143479,4143466,4145765,4891398,4144102,4145714,4888519,4145366,4142854,4143474,4145508,4144091,4889454,4143272,4145454,4891154,4841878,4142809,4144156,4142816,4142840,4143247,4143280,4143422,4143424,4143427,4143443,4143478,4889847,4142832,4142846,4143369,4142855,4143442,4142835,4143386,4143388,4143395,4142802,4143240,4143375,4142788,4143372,4143374,4142793 7124 NM_000594,NG_007462,AB088112,AB103618,AB202113,AF129756,AJ249755,AJ270944,AL662801,AL662847,AL929587,AY066019,AY214167,AY799806,BA000025,BX248519,BX927320,CH471081,CR753892,CR759886,CR942185,CS081473,M16441,M26331,X02910,Y14768,Z15026,AB451492,AF043342,AF098751,AJ227911,AJ251878,AJ251879,AK314960,BC028148,BI908079,FJ795028,M10988,X01394,HQ201306 NP_000585,BAC54944,BAF31279,BAE78639,AAD18091,CAB65595,CAI18292,CAI17678,CAI18649,AAL47581,AAO21132,AAV63951,BAB63396,CAI41940,CAQ09993,EAX03424,CAQ06935,CAQ07711,CAI95946,AAA61200,AAA36758,CAA26669,CAA75070,CAA78745,BAG70306,AAC03542,AAF71992,CAB63904,CAB63905,BAG37464,AAH28148,ACO37640,AAA61198,CAA25650,P01375,Q5RT83,Q5STB3,Q9UBM5,ABM82588,ABM85775,AAC42098,ADV31546 Hs.241570 DIF|TNF-alpha|TNFA|TNFSF2 APC1 protein|TNF superfamily, member 2|TNF, macrophage-derived|TNF, monocyte-derived|TNF-a|cachectin|tumor necrosis factor|tumor necrosis factor alpha|tumor necrosis factor ligand superfamily member 2|tumor necrosis factor-alpha 1643377,1643399,2289164 BW325_H,BMD5_H,BW111_H protein-coding 1346510 TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq] 1580863 18029348,1370465,19196817,16870576,16565220,16344560,15489334,12600716,12477932,12039524,11929592,11849463,11791643,11704801,11702059,11591653,7536959,2406243,2233719,19593659,19615732,19637314,19782033,20158880,19851886 7126 NM_021137,AC002094,AY065346,CH471159,AK300584,AK312387,BC001643,BC001949,BC003694,BT020121,CR456819,CR590463,CR608286,CR615941,CR621421,CR621837,DB093553,M80783 NP_066960,AAL38649,EAW51077,BAH13310,BAG35304,AAH01643,AAH01949,AAV38924,CAG33100,AAA58385,Q13829,ABM83684,ABM86981 Hs.76090 B12|B61|EDP1|MGC2317|hBACURD2 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2|BTB/POZ domain-containing protein TNFAIP1 protein-coding 1312234 TNFAIP2 tumor necrosis factor, alpha-induced protein 2 This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq] 1580863 1374453,19339270,12477932,10766166,8106408,19913121,20628086,20628624,20157331,20237496 7127 NM_006291,AL161669,AY273786,CH471061,AK302929,AK303781,AK309854,AK316496,BC017818,BC128449,BC128450,CR619961,M92357 NP_006282,AAP12649,EAW81805,BAG64090,BAG64740,BAH14867,AAI28450,AAA35582,Q03169 Hs.525607 B94 TNF alpha-induced protein 2|primary response gene B94 protein|tumor necrosis factor alpha-induced protein 2 protein-coding 1351803 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. Knockout studies of a similar gene in mice suggested that this gene is critical for limiting inflammation by terminating TNF-induced NF-kappa B responses. [provided by RefSeq] 1580863 20936779,17297453,17259397,17081983,16936197,16824518,16816117,16684768,16474993,16306043,16164629,15862966,15661910,15489334,15474016,15258597,15251990,15231748,15142865,14754897,14748687,14574404,12965196,12794157,12477932,12167698,12080044,11594795,11573245,11390377,11389905,11009421,10755617,10435631,10385526,9928991,9882303,9299557,8797804,8702721,8692885,8663499,2406243,2118515,18329387,19060883,15601843,17961127,17886247,20453841,20453842,20430393,20800603,20849588,20852893,20921970,20962850,20973039,21048031,20953190,17962196,11463333,15169888,18029348,19565500,19494296,19492975,19453261,19412163,19387456,19380639,19380636,19366996,19344623,19336370,19292917,19262574,19258598,19169254,19165919,19165918,19152111,19131965,19124729,19110536,18814951,18813897,18794853,18677310,18349075,18164316,17982456,19913121,20617138,20628086,20628624,17953374,19240061,19608751,19615732,19617629,19643665,19774492,19838193,19851077,19879194,19902201,19907439,19912257,19948975,20032510,20049410,20112363,20176734,20186265,20190752,20231195,20233754,20304918,20353580,20392859,20439292,20444755,20483768,20511617,20533286,20585109,20804738,20822710 7128 NM_006290,AL357060,AY248754,CH471051,AK312862,AL157444,AY820830,BC041790,BC064689,BC113871,BC114480,BQ002744,M59465,FJ434402,FJ434405,FJ434406,FJ434407,FJ434408,FJ434409,FJ434410,FJ434411,FJ434412,FJ434413,FJ434414,FJ434415,FJ434417,FJ434418,FJ434419 AAA51550,NP_006281,CAH72934,CAH72935,CAH72936,CAH72937,AAO61093,EAW47923,EAW47924,EAW47925,EAW47926,BAG35714,CAB75664,AAV71149,AAI13872,AAI14481,P21580,Q5PY18,Q5VXQ8,Q5VXQ9,Q5VXR0,ACN87230,ACN87231,ACN87232,ACN87233,ACN87234,ACN87235,ACN87236,ACN87237,ACN87238,ACN87239,ACN87240,ACN87241,ACN87242,ACN87243,ACN87244 Hs.211600 A20|MGC104522|MGC138687|MGC138688|OTUD7C|TNFA1P2 OTU domain-containing protein 7C|TNF alpha-induced protein 3|putative DNA-binding protein A20|tumor necrosis factor alpha-induced protein 3|tumor necrosis factor inducible protein A20|zinc finger protein A20 protein-coding 1351235 TNFAIP5 tumor necrosis factor, alpha-induced protein 5 7129 1345645 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. The expression of this gene can be induced by tumor necrosis factor alpha and interleukin-1. The expression can also be induced by mechanical stimuli in vascular smooth muscle cells, and is found to be correlated with proteoglycan synthesis and aggregation. [provided by RefSeq] 1580863 20463016,1730767,19389798,19383344,19344623,18820257,18586671,18448433,18260761,18042364,17585936,16873769,16771708,16709183,16687630,16467113,16453284,16006654,15917224,15840581,15809059,15718240,15653696,15489334,15060082,14718574,14515153,12692188,12477932,12401803,11854277,11278699,9654129,8797823,8568267,7935377,7516184,20602615,20628624,20237496,11375929,8454591,17207965 7130 AC009311,AJ413948,AJ413949,CH471058,AF086484,AJ419936,AJ421518,BC030205,CA415298,M31165,NM_007115,AU102580,CA307541,CS722271 NP_009046,AAY15067,EAX11511,CAD12353,CAD13434,AAH30205,AAB00792,P98066,ADQ32479,CAQ43122 Hs.437322 TSG-6|TSG6 TNF alpha-induced protein 6|TNF-stimulated gene 6 protein|hyaluronate-binding protein|tumor necrosis factor alpha-inducible protein 6|tumor necrosis factor-inducible gene 6 protein|tumor necrosis factor-inducible protein 6|tumor necrosis factor-stimulated gene-6 protein protein-coding 1349059 TNFAIP7 tumor necrosis factor, alpha-induced protein 7 7131 1314220 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 1580863 10644768,17353931,14724590,19112178,16189514,15342556,14702039,12477932,10233894,20699119,17207965,20398053 25816 NM_014350,AC008475,AC027320,AC035144,CH471086,AF070671,AF098933,AF098934,AF099935,AF099936,AK001850,AK001931,AK097284,AK097884,AK301281,BC005352,BC007014,BE958495,BP274520,NM_001077654,CR611795,CR615131,CR615621,CR457137 NP_055165,NP_001071122,EAW48913,EAW48914,AAC83229,AAF29435,AAC72975,AAC72976,BAG50983,BAG50994,BAG53444,BAH13449,AAH05352,AAH07014,CAG33418,O95379,ADQ32859 Hs.656274 GG2-1|MDC-3.13|SCC-S2|SCCS2 NDED|NF-kappa-B-inducible DED-containing protein|OTTHUMP00000222961|OTTHUMP00000222962|TNF alpha-induced protein 8|TNF-induced protein GG2-1|head and neck tumor and metastasis-related protein|tumor necrosis factor alpha-induced protein 8 protein-coding 1603272 TNFAIP8L1 tumor necrosis factor, alpha-induced protein 8-like 1 16189514,14702039,12477932 126282 NM_152362,AC005339,AC011498,CH471139,CS185650,AK024161,BC017672,BC044250,AK097251,BX282702,NM_001167942 NP_689575,EAW69204,EAW69205,CAJ42831,AAH17672,Q8WVP5,NP_001161414 Hs.465643,Hs.465645 FLJ39932|MGC17791 TNF alpha-induced protein 8-like protein 1|TNFAIP8-like protein 1|tumor necrosis factor alpha-induced protein 8-like protein 1|tumor necrosis factor, alpha-induced protein 8-like protein 1 protein-coding 1606238 TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2 12477932,9373149,20663561,8125298 79626 AL592424,CH471121,CS000936,AF271774,AF548003,AK027120,AK225472,AL833373,BC012013,BC063014,BI833715,CR457375,NM_024575 NP_078851,CAI16379,EAW53468,CAI48009,AAG44785,AAQ12262,BAB15664,CAI46145,AAH63014,CAG33656,Q6P589 Hs.709522 FLJ23467|TIPE2 TNF alpha-induced protein 8-like protein 2|TNFAIP8-like protein 2|inflammation factor 20|inflammation factor protein 20|tumor necrosis factor alpha-induced protein 8-like protein 2|tumor necrosis factor, alpha-induced protein 8-like protein 2 protein-coding 1604925 TNFAIP8L3 tumor necrosis factor, alpha-induced protein 8-like 3 12477932 388121 NM_207381,AC073964,CH471082,AK123281,AY517501,BC127701,BC127702 NP_997264,EAW77412,BAC85572,AAS76642,AAI27702,AAI27703,Q5GJ75 Hs.306343 FLJ41287 TNF alpha-induced protein 8-like protein 3|TNFAIP8-like protein 3|tumor necrosis factor alpha-induced protein 8-like protein 3|tumor necrosis factor, alpha-induced protein 8-like protein 3 protein-coding 1317580 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq] 1580863,4143170,4143171 20666744,9373179,9082980,9311998,18165900,9430227,11464292,19643596,19573080,19505916,19453261,19434100,19424623,19349211,19212626,19203830,19148581,19074885,19074831,19070628,18981952,18789900,18676680,18633131,18590575,18556450,18511705,18421578,18305945,18203008,18163425,17983809,17881904,17666396,17160022,17081983,17075118,17070520,17035413,16847314,16778114,16544055,16529749,16319225,16226105,16217763,16051735,16012731,15975957,15972852,15949439,15921376,15863153,15861184,15757891,15655781,15608691,15538968,15489334,15480430,15452120,15356269,15334061,15301860,15208670,15007095,14576771,14534720,14506242,12927928,12920112,12839575,12808117,12649168,12488957,12477932,12421985,12388693,12239152,12218097,12082627,11862476,11844843,11376335,10862756,10594023,10549288,10400625,9811967,9430228,9382840,9325248,7650480,16174727,16046522,15990565,20354842,20430723,20875141,20484047,15146197,16344560,19170196,19305384,19350268,19625176,19637313,19639179,19643115,19692168,19773279,19789190,20154087,20237496,20363213,20421368,20453000,20568250,20800603,20802294,19913121,20556591,20628086,20638129,20677014,20673328 4143170,4143171 8797 NM_003844,AC100861,CH471080,EF064713,AK291299,BC012866,BT006906,FJ795027,U90875,CN423254,DB101031 ABM85899,NP_003835,EAW63636,ABK41896,BAF83988,AAH12866,AAP35552,ACO37639,AAC51226,O00220,ABM82717 Hs.591834,Hs.213467 APO2|CD261|DR4|MGC9365|TRAILR-1|TRAILR1 TNF-related apoptosis inducing ligand receptor 1|TNF-related apoptosis-inducing ligand receptor 1|TRAIL receptor 1|TRAIL-R1|cytotoxic TRAIL receptor|death receptor 4|tumor necrosis factor receptor superfamily member 10A protein-coding 1346665 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq] 2290494,2290500,2290492,2290495,2290498,2290493,2298524,2290496,2290491,2290497,1580863,4143170,4142856,4143171 20430723,20666744,20339295,18022315,17983809,17968315,17922852,17881637,17690453,17689858,17666396,17627287,17548900,17273769,17070520,17027647,16980609,16980044,16778114,16731632,16729023,16632604,16571651,16544055,16541419,16529749,16344560,16319225,16226105,16051735,16007131,16003390,15921376,15828026,15757891,15685228,15655781,15608691,15538968,15520016,15507617,15502938,15489334,15485835,15480430,15452120,15356269,15334061,9373179,9311998,9430227,11464292,14644197,12761501,10549288,8777713,10894160,19584075,19573080,19519609,19434100,19424623,19412666,19376776,19243385,19230044,19219602,19212626,19074885,19074831,19037087,18840411,18829683,18625509,18599488,18593935,18534188,18519235,18511705,18424742,18341587,18314443,18219321,18203008,18190241,18079962,15301860,15208670,15173180,15110168,14759258,14691451,14688276,14576771,14561739,14534720,14506242,12975309,12920112,12915532,12847280,12808117,12642868,12488957,12477932,12421985,12388693,12388624,12218097,12196516,12175536,11862476,11844843,11696376,11193041,10862756,10542098,10072170,9721851,9430228,9382840,9326928,9325248,9285725,9242611,9242610,16174727,16046522,15990565,15659383,11094155,15044455,15688023,16463784,18165900,19305384,19637313,19643115,19661294,19674787,19730199,19773279,19854829,19890662,19939880,20007968,20087343,20106985,20123409,20154087,20156289,20237496,20410100,20875141,15607964,12805378,19432816,20354842,20450916,20568250,20800603,20802294,20839416,20808443,19913121,20398055,20628086,20634891,20673328 2290494,2290500,2290492,2290495,2290498,2290493,2298524,2290496,2290491,2290497,4143170,4142856,4143171 8795 NR_027140,NM_003842,NM_147187,NG_012145,AB014718,AB054004,AC107959,CH471080,AB451272,AB451399,AF012535,AF012628,AF016266,AF016268,AF016849,AF018657,AF018658,AF020501,AF022386,AF153687,AF192548,AK291216,AK296128,AK298602,AL529460,AY358277,BC001281,BX537617,BX538104,BX538179,CR541898,CR593628,CX870630,DA738472,DA889488 NP_003833,NP_671716,BAA33723,BAB39708,EAW63640,EAW63641,EAW63642,EAW63643,BAG70086,BAG70213,AAB67103,AAB67109,AAB81180,AAC01565,AAC51778,AAB70577,AAB70578,AAB71412,AAB71949,AAF75587,AAF07175,BAF83905,BAH12263,BAH12824,AAQ88644,AAH01281,CAD97801,CAD98017,CAD98053,CAG46696,O14763,Q6FH58,Q7Z2I8,Q9BY82 Hs.521456 CD262|DR5|KILLER|KILLER/DR5|TRAIL-R2|TRAILR2|TRICK2|TRICK2A|TRICK2B|TRICKB|ZTNFR9 Fas-like protein|TNF-related apoptosis-inducing ligand receptor 2|apoptosis inducing protein TRICK2A/2B|apoptosis inducing receptor TRAIL-R2|cytotoxic TRAIL receptor-2|death domain containing receptor for TRAIL/Apo-2L|death receptor 5|p53-regulated DNA damage-inducible cell death receptor(killer)|tumor necrosis factor receptor superfamily member 10B|tumor necrosis factor receptor-like protein ZTNFR9 protein-coding 1350284 TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq] 1580863 9242610,16174727,16046522,15990565,16169070,11396170,11417478,11420819,11442750,11451151,11464279,11753607,20451496,9314565,19035483,18590575,18511705,18460741,18345033,17690453,17522430,16980609,15921376,15916713,15538968,15489334,15340161,15301860,15207703,14999791,14623878,12975309,12808117,12488957,12477932,12417331,12390973,12136286,11859410,11848467,11844843,11024459,11001921,10435597,9613612,9551946,9373179,9325248,9242611,19573080,19661294,19773279,19936781,20237496,20568250 8794 DC380668,NM_003841,AC107959,AF524869,CH471080,AF012536,AF012629,AF014794,AF016267,AF020502,AF033854,AK298664,AK298718,AK313213,AY358281,BC017852,BC125041,BC125042,BG545631,CR541857,GM840261,HB475040 NP_003832,AAM82564,EAW63638,AAB67104,AAB67110,AAC05593,AAB81181,AAB71413,AAB87506,BAG60832,BAH12853,BAG36028,AAQ88648,AAH17852,AAI25042,AAI25043,CAG46655,O14798,Q05D71,CAT16333,CBA12840 Hs.655801 CD263|DCR1|DCR1-TNFR|LIT|MGC149501|MGC149502|TRAIL-R3|TRAILR3|TRID OTTHUMP00000123527|TNF related TRAIL receptor|TNF related apoptosis-inducing ligand receptor 3|TNF-related apoptosis-inducing ligand receptor 3|TRAIL receptor 3|TRAIL receptor without an intracellular domain|TRAIL-R3|antagonist decoy receptor for TRAIL/Apo-2L|cytotoxic TRAIL receptor-3|decoy TRAIL receptor without death domain|decoy receptor 1|decoy without an intracellular domain|lymphocyte inhibitor of TRAIL|tumor necrosis factor receptor superfamily member 10C protein-coding 1346827 TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq] 1580863 17353931,9430226,18981952,18980997,18460741,17545522,17522430,16980609,16934748,16799475,16319225,15921376,15919363,15916713,15538968,15489334,15340161,15301860,14999791,12975309,12915532,12808117,12488957,12477932,12421985,12390973,11956107,11844843,11420819,10754286,10229846,9537512,9382840,16174727,16046522,15990565,19573080,19730199,19773279,19948942,20018172,20237496,20875141,17207965,20568250,20819778,19913121,20628086 8793 NM_003840,AC100861,AC107959,CH471080,AF021232,AF021233,AF023849,AF029761,AK313528,AY358285,BC052270,CD703247,GM841195 NP_003831,EAW63637,AAC32765,AAC32766,AAC52053,AAD03477,BAG36307,AAQ88652,AAH52270,Q9UBN6,ADQ32874,CAT16465 Hs.213467 CD264|DCR2|TRAILR4|TRUNDD TNF receptor-related receptor for TRAIL|TNF-related apoptosis-inducing ligand receptor 4|TRAIL receptor 4|TRAIL receptor with a truncated death domain|TRAIL-R4|decoy receptor 2|decoy with truncated death domain|tumor necrosis factor receptor superfamily member 10D protein-coding 1321639 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Studies of the mouse counterpart suggest that this receptor directly mediates the osteoprotegerin ligand (OPGL)-induced osteoclastogenesis in osteoclast precursor cells. [provided by RefSeq] 2291908,2302321,2302324,2302363,2302322,2302361,1599463,1625350,1580863 17966895,15377473,12929927,10075662,9367155,19554506,19453261,19416721,19213753,19085839,19079262,19074885,19008470,18928898,18802807,18632421,18606301,18445777,18367263,18311801,18174230,18061491,18008334,17982618,17895323,17876645,17634140,17546619,17447113,17331078,17288531,17115234,16960694,16953816,16583245,16556708,16328004,16270354,16249885,16240334,16215261,16184196,16151677,16083856,16052586,15750601,15615497,15564564,15301860,15248232,12933809,12709501,12568416,12393586,12362049,12296995,12200385,12043011,11918537,11809792,11771666,11762937,11675352,11406619,11118297,10677500,10635328,10615125,10500098,10097072,10025951,9878548,9852070,9774460,9718349,9685412,9626621,9345096,7911698,19507210,19578385,19641626,19672874,19705167,19728335,19801982,19890054,19896533,19940926,20205168,20231205,20237496,20436471,20531232,20534768,20857484,19913121,20554715,20564239,20628086,20974615 2291908,2302321,2302324,2302322,2302361,1599463,1625350 8792 NM_003839,NG_008098,AC100843,CH471096,AB209762,AF018253,GM980130,GM986870 NP_003830,EAW63124,BAD92999,AAB86809,Q59EP9,Q9Y6Q6,AAI52907,CAX21650,CAX24318 Hs.204044 CD265|FEO|LOH18CR1|ODFR|OFE|OPTB7|OSTS|PDB2|RANK|TRANCER loss of heterozygosity, 18, chromosomal region 1|osteoclast differentiation factor receptor|receptor activator of NF-KB|receptor activator of nuclear factor-kappa B|tumor necrosis factor receptor superfamily member 11A|tumor necrosis factor receptor superfamily, member 11a, activator of NFKB|tumor necrosis factor receptor superfamily, member 11a, activator of nfkb protein-coding 730969 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq] 730033,2302324,1624125,1624167,1620974,1624171,1625347,1620794,1620889,1624168,1624176,1620776,1620893,1580863 18299469,16512757,15124262,12824864,12096838,20569643,20690034,20809534,20819596,20339356,20448212,20033478,20623670,20960157,20961463,20974615,9168977,9108485,19676147,19642016,19554506,19548455,19502537,19453261,19420105,19401376,19380455,19379170,19352306,19351609,19346738,19325145,19299182,19229472,19206164,19158438,19151114,19131500,19128145,19105036,19073256,19062016,19053023,19014892,18945829,18938269,18931513,18929691,18928898,18925325,18821330,18814141,18802807,18789716,18727653,18722030,18719882,18697793,18684318,18676739,18668542,18634923,18624938,18579554,18565252,18565244,18490014,18455228,18445777,18399769,18398265,18367263,18362509,18348083,18338379,18328262,18319315,18319311,18311801,18305214,18271681,18253488,18252198,18251702,18208894,18190241,18178454,18174230,18172654,18156213,18083042,18081868,18061491,18040268,18000166,17993768,17970704,17966895,17923273,17895323,17878722,17876645,17852826,17804683,17723135,17712025,17711477,17706953,17703334,17702740,17667143,17634140,17631639,17606458,17598007,17570371,17558893,17471510,17470718,17448630,17443309,17403189,17388729,17354199,17328075,17288531,17189957,17148684,17147692,17111200,16999948,16980077,16953816,16949901,16831934,16804084,16712673,16687626,16678184,16620835,16611736,16601843,16583245,16533764,16512834,18298349,16491292,16453284,16344560,16343827,16288714,16287088,16249885,16240334,16215261,16152630,16151677,16143421,16133687,16123486,15978970,15936463,15799029,15794927,15782282,15757850,15721297,15700136,15648548,15647836,15638385,15630493,15615493,15564564,15538968,15521102,15504545,15489334,15386310,15340161,15313187,15312251,15308561,15307108,15301860,15292354,15292302,15290725,15242994,15223723,15155868,15064358,15059506,14999524,14734048,14680982,14672344,14529897,14508625,14504888,12923331,12857926,12662434,12619938,12584041,12564836,12477932,12469211,12412803,12398237,12364420,12364326,12351414,12221720,12213850,12213849,12210731,12189164,12181640,12177271,12153751,12150965,12124406,12110935,12073153,12067713,12056809,12054622,12054560,12054556,12052453,11912131,11505389,11451955,11139569,11035950,10706119,9950424,9688283,9603945,9573043,9571159,9520411,9492069,9478964,9434163,8125298,9373149,19058836,19438902,19449178,19523465,19539794,19565568,19604388,19633200,19643942,19661483,19662974,19671825,19671856,19705167,19730683,19775319,19779468,19801982,19896533,19900367,19907187,19922962,19934266,20004120,20005786,20063037,20110921,20137703,20146170,20157786,20204532,20205168,20231205,20237496,20333869,20534768,20548944,20224558,20028464,20084381,19436932,20974706,19913121,20205614,20554715,20628086 730033,2302324,1624125,1624167,1620974,1624171,1625347,1620794,1620889,1624168,1624176,1620776,1620893 4982 BQ000897,NM_002546,NG_012202,AB008822,AC107953,AP004283,AY466112,CH471060,AB002146,AF134187,AK223155,AK308524,AK313710,BC011023,BC030155,BM748946,CK903484,CR592423,DA477521,U94332 NP_002537,BAA32076,AAR23265,EAW91978,BAA25910,AAF20168,BAD96875,BAG36455,AAH30155,AAB53709,O00300,ABM83190,ABM86392 Hs.81791 MGC29565|OCIF|OPG|TR1 osteoclastogenesis inhibitory factor|osteoprotegerin|tumor necrosis factor receptor superfamily member 11B protein-coding 1343569 TNFRSF12A tumor necrosis factor receptor superfamily, member 12A 1580863 10551889,19349318,19018248,18505918,17594693,17383968,17124496,17018610,16809572,16526941,16503147,16341674,15611130,15489334,15353286,15140220,14573547,12651623,12496418,12477932,12445828,11728344,10751351,20844036,20557950,20487651,20610643,20628624,20004376,20189297,12529173,19241374,19573080,19773279,19828625,19895311,19963275,20237496,20568250 51330 NM_016639,AC108134,CH471112,CS016820,AB035480,AB035481,AF191148,BC002718,BC020538,BC064377,BM842283,CR589964,CS417927 NP_057723,EAW85428,EAW85429,EAW85430,CAI54172,BAA94792,BAB17850,AAF69108,AAH02718,Q9NP84,ABM83894,ABM87215,CAL48784 Hs.355899 CD266|FN14|TWEAKR FGF-inducible 14|fibroblast growth factor-inducible immediate-early response protein 14|tumor necrosis factor receptor superfamily member 12A|tweak-receptor|type I transmembrane protein Fn14 protein-coding 1343839 TNFRSF12L tumor necrosis factor receptor superfamily, member 12-like 9615223 8791 1344563 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 20676093,19605846,19629655,19741596,19773279,19775471,20006554,20156508,19028483,19456850,19573080,10956646,9311921,19494827,19392801,19321861,19291294,19210517,19207947,19074885,19056482,18981294,18978466,18051214,18046446,18025170,17983875,17917015,17550853,17539903,17492055,17464555,17392798,17392797,17171762,17154264,17119122,16960154,16931039,16919470,16914324,16618819,16007087,16007086,15827134,15542592,14702039,14512299,12477932,10973284,10920230,10898980,10881172,10880535,10801128,9373149,8125298,20568250,20139978 23495 NM_012452,NG_007281,AB222991,AC104024,AL353996,CH471196,CS281878,CS281938,AF023614,AK097261,AK223453,AK313302,AY302137,BC109392,CS468488,EF064711,HA635638,HC049945,HC069029,HC083953,HC086501,HH836168,HI923615 NP_036584,BAE16555,EAW55728,EAW55729,CAJ90607,CAJ90609,AAC51790,BAD97173,BAG36107,AAP57629,AAI09393,O14836,Q4ACX1,Q53F36,ABK41894,CAM32377,CAZ39523,CBH32710,CBH51785,CBI12200,CBI67647,CBX33267,CBY65603 Hs.158341 CD267|CVID|CVID2|FLJ39942|MGC133214|MGC39952|TACI|TNFRSF14B transmembrane activator and CAML interactor|tumor necrosis factor receptor 13B|tumor necrosis factor receptor superfamily member 13B protein-coding 1354073 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq] 1580863 19207947,19074885,18775026,18051214,18025170,17963166,17154264,17119117,16931039,16931038,16919470,16914324,16840730,16769579,16320342,16226112,16160919,15644327,15585864,14512299,12755599,12721620,12715002,12477932,12471121,12456020,12374279,11869903,11747837,11591325,11509692,11076863,10359578,19573080,19666484,19726767,19773279,20025535,20230666,20237496,20460528,20554963,21041452,20568250 115650 NM_052945,NG_007579,AB222990,CH471095,EF064710,Z99716,AF373846,BC105123,BC112030,HA635640,HC049947,HC069087,HC083955,HC086503,HH836170 NP_443177,BAE16554,EAW60473,ABK41893,CAI41690,AAK91826,AAI05124,AAI12031,Q5H8V1,Q96RJ3,AAI11586,CAZ39524,CBH32711,CBH51798,CBI12201,CBI67648,CBX33268 Hs.344088 BAFF-R|BAFFR|CD268|CVID4|MGC138235 B cell-activating factor receptor|B-cell-activating factor receptor|BAFF receptor|BLyS receptor 3|tumor necrosis factor receptor superfamily member 13C protein-coding 1320832 TNFRSF14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor was identified as a cellular mediator of herpes simplex virus (HSV) entry. Binding of HSV viral envelope glycoprotein D (gD) to this receptor protein has been shown to be part of the viral entry mechanism. The cytoplasmic region of this receptor was found to bind to several TRAF family members, which may mediate the signal transduction pathways that activate the immune response. [provided by RefSeq] 1580863,2317281,2317295 9153189,9162022,9462508,11511370,17353931,17474147,18029348,19332782,19110536,19023130,18987746,18671825,18502984,18193050,17947707,17405920,17010447,16797773,16169851,16131544,15917993,15767456,15647361,15568026,15489334,15340161,15301860,15110526,14749527,12975309,12915568,12477932,12466117,12093804,11976496,11756979,11742858,11463856,11390428,9774688,9162061,8898196,10318773,16169070,10706119,20453842,16932752,18794853,19473566,19573080,19680232,19701890,19762537,19773279,19915044,20066438,20187130,20190752,20233754,20237496,20439292,20568250,20884631,20962851,20973039 2317281,2317295 8764 NM_003820,AY466111,CH471183,AB208808,AF153978,AF373877,AF373878,AK124010,AK300515,AK303468,AK310076,AY358879,BC002794,BC018882,BC029848,CR456909,CR598295,CR609758,CR615544,CR622712,CR625233,U70321,U81232,AL139246 NP_003811,AAR23264,EAW56089,EAW56090,EAW56091,EAW56092,EAW56093,EAW56094,BAD92045,AAF75588,AAL47717,AAL47718,BAG53992,BAG62227,BAG64508,AAQ89238,AAH02794,AAH29848,CAG33190,AAB58354,AAD00505,Q59HF1,Q8N634,Q92956,ABM83926,ABM87754,CAX30821,CAX30822,CAX30823,CAX30824 Hs.512898 ATAR|HVEA|HVEM|LIGHTR|TR2 CD40-like protein|OTTHUMP00000204095|OTTHUMP00000204096|OTTHUMP00000204097|OTTHUMP00000204099|herpes virus entry mediator A|herpesvirus entry mediator A|tumor necrosis factor receptor superfamily member 14|tumor necrosis factor receptor-like 2|tumor necrosis factor receptor-like gene2 protein-coding 1312303 TNFRSF17 tumor necrosis factor receptor superfamily, member 17 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. 1580863,2317311,2317306 8165126,10801128,10908663,1396583,18025170,17968879,17825416,16960154,16931039,16919470,15692072,15542592,15301860,14512299,12477932,11528522,10973284,10903733,10493829,8527407,12721620,15846369,19305408,19641626,19741596,19773279,20016944,20568250 2317311,2317306 608 NM_001192,AB052772,AC007216,AY509112,CH471112,U95742,Z29574,AY684975,BC058291,EF152353,EF152354,EF152355,EF152356,Z14954,Z29575,CS281880,CS281940 NP_001183,BAB60895,AAR84240,EAW85129,AAB67251,CAA82690,AAV92616,AAH58291,ABN42508,ABN42509,ABN42510,ABN42511,CAA78679,CAA82691,Q02223,Q13808,Q2TQ40,Q6PE46,CAJ90608,CAJ90610 Hs.2556 BCM|BCMA|CD269 B cell maturation antigen|B-cell maturation factor|B-cell maturation protein|tumor necrosis factor receptor superfamily member 17 protein-coding 1604651 TNFRSF18 tumor necrosis factor receptor superfamily, member 18 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 10074428,19155305,18987746,18924213,19423540,19547759,19573080,20237496,20331378,20406964,20438785,18230609,17538882,17360848,16955181,15944293,15340161,15301860,12975309,12070049,11869690,11812990,10836847,10037686,9177197,18723571 8784 NM_148901,NM_004195,NM_148902,AL162741,CH471183,AF117297,AF125304,AF241229,AY358877,BC152381,BC152386,BE244247,BT019531,BT019532 NP_683699,NP_004186,NP_683700,CAI23246,CAI23247,CAI23248,EAW56282,EAW56283,EAW56284,AAD19694,AAD22635,AAF63506,AAQ89236,AAI52382,AAI52387,AAV38338,AAV38339,Q5U0I4,Q9Y5U5,AAI56103,AAI56965 Hs.212680 AITR|GITR|GITR-D TNF receptor superfamily activation-inducible protein|activation-inducible TNFR family receptor|glucocorticoid-induced TNFR-related protein|tumor necrosis factor receptor superfamily member 18 protein-coding 1344271 TNFRSF19 tumor necrosis factor receptor superfamily, member 19 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 1580863 10809768,18029348,17239012,17187358,15489334,15340161,15301860,12975309,12477932,12060722,10764796,7829101,15694321,15694322,19641626,20237496,20512145 55504 NM_148957,NM_018647,AL161422,AL354815,CH471075,AB040434,AF086276,AF167555,AF246998,AF246999,AK292874,AK292891,AY358888,BC035796,BC047321,BG674480,BI494770,CA437886,AK304290 NP_683760,NP_061117,CAH70837,CAH70838,EAX08325,EAX08326,EAX08327,BAB03269,AAF71828,AAK28395,AAK28396,BAF85563,BAF85580,BAG65148,AAQ89247,AAH47321,Q9NS68 Hs.149168 TAJ|TAJ-alpha|TRADE|TROY toxicity and JNK inducer|tumor necrosis factor receptor superfamily member 19 protein-coding 737288 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. [provided by RefSeq] 2292150,2315115,1624178,1624183,1624194,1624195,1624177,1624179,1624185,1624180,1624181,1624182,1624184,1624190,1580863 20400394,20421368,20497634,20695192,20568250,20811626,21037509,21048031,21068102,20371430,20458742,11226577,20457915,12082592,12049175,12040173,12017295,11985495,11961180,11947900,11937569,11934887,11920568,11909948,11904678,11882518,11861282,11801527,11786908,11755217,11737221,11676596,11606045,11598334,11562425,11528523,11522182,11443543,11212177,11196686,11175303,11163081,11098060,11072751,10911999,10902757,10875917,10848577,10755617,10706119,10634209,10359574,10356400,10339433,10199409,10187798,9915703,9753329,9642260,9585614,9563508,9557650,9510175,9126987,9045686,9038203,8939750,8934525,8906799,8808629,8612133,8565075,8387891,8077196,7995952,7901149,7876093,7664431,7601280,7156325,3001529,2170974,2158862,2153136,1702293,1655358,1648547,1331108,1315717,18939944,18724939,18621737,11002422,8985253,10187805,9082980,8943045,9560245,15659383,11002417,10400625,7852363,15247912,16195372,16153798,16142859,16134057,16043808,16043718,15949439,15943902,15851552,15842589,15818692,15817701,15787661,15692984,15586174,15542843,15526005,15502938,15492850,15489334,15485837,15457442,15301860,15289829,15288471,15274667,15251454,15188372,15146559,15071491,15063762,15041705,15018649,14872483,14743216,14728878,14702039,14694358,14671137,14610673,19453261,19390575,19390513,19369902,19336370,19287455,19258923,19246939,19242924,19238748,19193342,19116900,19084540,19029521,19019335,18990758,18936101,18818748,18807256,18717726,18715339,18679053,18676680,18625701,18606683,18571427,18544535,19505916,9115275,11684708,15465831,2158863,12761501,12189246,1698610,17010968,2848815,7758105,12887920,19641466,19556827,19541728,19527514,19525953,14585990,13130484,12913922,12911633,12887914,12879482,12858434,12832748,12818408,12811828,12786601,12768019,12748171,12748169,12730509,12706861,12690082,12661999,12651071,12644782,12610052,12601524,12559634,12530121,12500222,12477932,12391233,12376300,12353079,12220546,12209523,12209507,12147741,12115625,12107724,12105243,18541194,18538149,18512793,18510047,18508832,18445477,18415772,18408954,18338763,18337349,18333356,18287568,18275007,18248655,18243134,18206417,18180277,18174230,18167350,18163488,18086728,18083240,18078813,18068948,18058462,17921876,17852084,17785864,17763205,17703412,17693606,17688691,17686637,17665448,17665435,17564788,17530646,17477815,17431682,17346438,17324927,17267158,17234651,17200772,17105909,17075277,17051333,16859822,16732051,16731080,16580225,16533817,16463024,16447098,16289162,16282562,16277675,16260783,16234278,16227624,16216134,19913121,20511226,20602615,20628086,20654748,20673868,16344560,19690440,19854717,20430728,20646338,16291755,16680093,16968706,18067272,19077906,19170196,19448410,19523687,19524513,19579027,19582456,19594495,19625176,19643942,19673872,19692168,19692652,19701605,19738620,19741298,19772798,19773279,19773451,19784808,19789190,19794511,19796978,19801788,19804406,19826638,19845893,19865102,19879194,19879354,19890662,19892918,19906316,19948975,20045350,20066156,20074459,20074469,20098615,20100586,20110607,20237496,20331378,20333651,20430450,20452482,20453000,20483718,20503287,20506103,8621670,20980627,20516030,20564232,19070941,20566746,20062090,21029567 2292150,2315115,1624178,1624183,1624194,1624195,1624177,1624179,1624185,1624180,1624181,1624182,1624184,1624190 7132 NM_001065,NG_007506,AC006057,AY131997,CH471116,CS068582,M75866,AK056611,AK291088,AK298729,AK304517,AK308061,AK315509,AY182755,BC010140,BF528949,CR593985,CR596841,CR597821,CR606215,CR622520,M33294,M58286,M60275,M63121,A21522,DA664652,EU927389 NP_001056,AAM77802,EAW88805,EAW88806,CAI84622,AAA61201,BAG51763,BAF83777,BAG60879,BAG65321,BAG37891,AAO23979,AAH10140,AAA03210,AAA36753,AAA36756,AAA36754,P19438,Q6Y4Q7,CAA01558,ABW03836,ABW03527,ACH57451 Hs.279594 CD120a|FPF|MGC19588|TBP1|TNF-R|TNF-R-I|TNF-R55|TNFAR|TNFR1|TNFR55|TNFR60|p55|p55-R|p60 TNF-R1|TNF-RI|TNFR-I|tumor necrosis factor binding protein 1|tumor necrosis factor receptor 1|tumor necrosis factor receptor 1A isoform beta|tumor necrosis factor receptor superfamily member 1A|tumor necrosis factor receptor type 1|tumor necrosis factor receptor type I|tumor necrosis factor-alpha receptor protein-coding 1298224 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq] 2315115,2292150,738128,1580863,1625350 18083240,18080762,18068948,18038243,18029348,17998218,17852784,17825894,17785864,17763205,17703412,17634906,17530646,17346438,17331078,17267158,17258924,17220297,17207711,17028114,16980123,16979382,16871413,16732051,16732050,16731080,16710414,16645020,16580225,16502120,16282562,16277675,16195372,16142859,16003175,15943902,15920055,15886863,15863392,15851552,15842589,15805680,15787661,15784704,15743036,15674653,15657078,15603867,15585313,15572357,15555301,15526005,15489334,15459750,15457442,15355698,15301860,15274667,15252214,15212671,15146559,15142217,15091317,15071724,15041705,15022314,15018649,15000697,14872483,14743216,14728878,14688526,14688072,11244088,8702885,17010968,19641466,19561157,19557004,19527514,19497711,19453261,19442614,19422935,19421420,19369902,19343543,19336370,19287455,19262425,19258923,19246939,19238748,19212208,19193342,19174780,19141860,19074885,19068596,19050632,19019335,18818748,18807256,18764880,18755894,18717726,18715339,18685868,18679053,18671942,18636124,18593464,18571427,18565259,18544535,18538149,18535030,18510047,18417150,18415772,18385279,18337349,18309487,18248655,18206417,18173921,18088549,10747083,15899873,20568250,20811626,20842464,20861605,20959405,19650780,14651520,12233877,12220546,12217957,12209507,12209506,12161545,12144133,12122509,12049175,12011375,11979305,11961180,11907583,11907088,11904678,11882518,11861282,11804591,11762942,11737221,11600223,11520075,11371414,11357933,11315843,11285131,11212177,11197692,11169260,11163081,11144293,11126399,11112773,10950109,10848577,10764746,14565595,14532286,14506926,12960285,12918703,12882979,12880679,12858454,12858434,12786601,12770792,12739039,12730509,12661999,12651071,12610797,12610052,12601524,12559634,12530121,12500222,12477932,12371624,12370298,12364441,12353079,12351485,12296856,10206649,9552007,9535738,9507943,9461607,9326234,9109395,9104814,8702708,8661109,8590321,8123048,8069916,7884318,7859281,7821811,7664431,7639698,7559483,7544915,7539446,2173696,2172983,2166946,2160731,2158863,2153136,1966549,1929203,1663076,1655619,1335762,1328224,16846840,9744279,9162022,8710854,11279055,10875917,7852363,20395596,20430728,20371430,19084540,19177266,19473970,19684152,19692652,19738620,19772798,19773279,19773451,19801788,19811435,19839997,19845893,19846171,19892918,19900796,20007930,20038584,20045350,20074459,20100586,20110607,20181891,20217072,20237496,20300049,20305143,20369486,20401725,20452482,20488723,20503287,20548340,20516030,20980627,19070941,19913121,20485444,20602615,20628086,20628624,20646319,20673868 2315115,2292150,738128,1625350 7133 NM_001066,AB030949,AB030950,AB030951,AB030952,AL031276,AL357835,AY264804,AY342040,CH471130,CS068584,U52165,X80021,AY148473,BC011844,BC042167,BC052977,BT019927,EU826615,M32315,M35857,M55994,S63368,GN344135,HI179124 NP_001057,BAA89052,BAA89053,BAA89054,BAA89055,CAI19225,CAH73721,AAO89076,AAP88939,EAW71731,EAW71732,EAW71733,EAW71734,EAW71735,CAI84623,AAC50622,CAA56324,AAN72434,AAH11844,AAH42167,AAH52977,AAV38730,ACF47651,AAA59929,AAA63262,AAA36755,AAB19824,P20333,Q6LBF2,Q8IVS6,Q9UIG9,Q9UIH0,Q9UIH2,CAY56003,CBX53870 Hs.256278 CD120b|TBPII|TNF-R-II|TNF-R75|TNFBR|TNFR1B|TNFR2|TNFR80|p75|p75TNFR TNF-R2|TNF-RII|TNFR-II|p75 TNF receptor|p80 TNF-alpha receptor|soluble TNFR1B variant 1|tumor necrosis factor beta receptor|tumor necrosis factor binding protein 2|tumor necrosis factor receptor 2|tumor necrosis factor receptor superfamily member 1B|tumor necrosis factor receptor type II 1643585,2289443,2289516,2289613 SGHRL1_H,BW413_H,BW442_H,BW396_H protein-coding 1316426 TNFRSF21 tumor necrosis factor receptor superfamily, member 21 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB and MAPK8/JNK, and induce cell apoptosis. Through its death domain, this receptor interacts with TRADD protein, which is known to serve as an adaptor that mediates signal transduction of TNF-receptors. Knockout studies in mice suggested that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq] 1580863 19165232,19654028,20237496,19225519,18029348,17962943,16378686,15623156,15489334,15301860,14702039,14574404,12975309,12477932,11753679,11714751,11485735,9714541,20819778 27242 HI574196,NM_014452,AL096801,CH471081,AB209394,AF068868,AF208860,AJ420531,AK001504,AK025399,AK315560,AY358304,BC005192,BC010241,BC015466,BC017730,BC021572,BI561782,BT007420,CR457190 CBX47587,NP_055267,CAB75692,EAX04314,EAX04315,EAX04316,EAX04317,EAX04318,BAD92631,AAC34583,AAF64274,BAG50928,BAG37936,AAQ88671,AAH10241,AAH17730,AAH21572,AAP36088,CAG33471,O75509,Q59FR5,Q9NZD9,ABM81695,ABM84856 Hs.443577 BM-018|DR6|MGC31965 TNFR-related death receptor 6|death receptor 6|tumor necrosis factor receptor superfamily member 21 protein-coding 1344744 TNFRSF22 tumor necrosis factor receptor superfamily, member 22 94098 AY046551 1354179 TNFRSF23 tumor necrosis factor receptor superfamily, member 23 94099 AY046550 1312746 TNFRSF25 tumor necrosis factor receptor superfamily, member 25 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [provided by RefSeq] 1580863 9114039,9052839,8994832,11911831,18411341,17085968,16986165,16517446,15760679,15301860,15241467,14759258,14702039,12975309,12882979,12875962,12477932,11819535,11793848,11606045,11181995,11094155,9915703,9615223,9446802,8934525,8889548,8875942,9560245,11376335,19674013,19773279,20125169,20568250 8718 NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664,AB051850,AB051851,AL158217,AY254324,CH471130,CS001236,U83599,U83600,AB308321,AF026070,AF026071,NM_148970,AK094463,AY358309,BC143886,BM666370,U72763,U74611,BC117189,U75380,U75381,U78029,U83597,U83598,U94501,U94502,U94503,U94504,U94505,U94506,U94507,U94508,U94509,U94510,U94512,Y09392 NP_683871,NP_683868,NP_683866,NP_683867,NP_003781,NP_001034753,BAB40662,BAB40663,CAI22152,CAI22153,CAI22154,CAI22155,CAI22158,AAO63495,EAW71540,EAW71541,EAW71542,EAW71543,EAW71544,EAW71545,EAW71546,EAW71547,EAW71548,EAW71549,CAI48017,AAB41434,AAB41435,BAF64192,AAC39556,AAB82288,BAG52869,AAQ88676,ADR83328,AAI17190,AAI43887,AAC50819,AAB39714,AAC51192,AAC51193,AAB40918,AAB41432,AAB41433,AAC51306,AAC51307,AAC51308,AAC51309,AAC51310,AAC51311,AAC51312,AAC51313,AAC51314,AAC51315,AAC51316,CAA70559,CAA70560,CAA70561,Q93038 Hs.462529 APO-3|DDR3|DR3|LARD|TNFRSF12|TR3|TRAMP|WSL-1|WSL-LR OTTHUMP00000220972|OTTHUMP00000220974|OTTHUMP00000220975|apoptosis inducing receptor|apoptosis-inducing receptor AIR|apoptosis-mediating receptor DR3|apoptosis-mediating receptor TRAMP|death domain receptor 3 soluble form|death receptor 3|death receptor beta|lymphocyte associated receptor of death|lymphocyte-associated receptor of death|protein WSL-1|translocating chain-association membrane protein|tumor necrosis factor receptor superfamily member 25|tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein) protein-coding 737374 TNFRSF4 tumor necrosis factor receptor superfamily, member 4 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq] 730097,1580863 20400327,7737295,7510240,19029446,18987746,18941188,18843780,18798503,18723571,18660703,18645038,18501882,18398332,18397322,18374895,18327975,18174230,16750861,16710414,16456009,16380476,16329997,16232366,15941918,15808546,15778343,15638367,15592478,15489334,15470070,15301860,14644025,12624783,12478477,12477932,12296857,12134113,11929124,11567634,11479622,11470287,11346458,10861060,10626892,9488716,9418902,7749983,7704935,2828930,20485444,21086790,19538134,20139223,20306696,20331378,20376799 730097 7293 NM_003327,AJ277151,AL162741,CH471183,DQ118974,AW293499,BC040257,BC105070,BC105072,S76792,AW290885 NP_003318,CAB96543,CAI23249,CAI23250,EAW56278,EAW56279,EAW56280,EAW56281,AAZ15374,AAI05071,AAI05073,AAB33944,P43489 Hs.129780 ACT35|CD134|OX40|TXGP1L ACT35 antigen|ATC35 antigen|CD134 antigen|OX40 antigen|OX40 cell surface antigen|OX40 homologue|OX40L receptor|TAX transcriptionally-activated glycoprotein 1 receptor|lymphoid activation antigene ACT35|tax-transcriptionally activated glycoprotein 1 receptor|tumor necrosis factor superfamily, member 4|tumor necrosis factor receptor superfamily member 4 protein-coding 1353622 TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Overexpression of this gene has been noted in gastrointestinal tract tumors, and it is located in a gene-rich cluster on chromosome 20, with other potentially tumor-related genes. Two transcript variants encoding the same isoform, but differing in the 5' UTR, have been observed for this gene. [provided by RefSeq] 1580863 10318773,9872321,19623168,19305072,19269042,19246462,19204726,19093253,18991242,18813347,18758464,18757243,18695885,18676680,18562337,18376232,18349319,18256354,18251184,18006694,17968950,17687076,17493146,17393415,17010447,16210617,16040301,15661928,15627206,15489334,15475369,15301860,15215185,14697332,14688085,14657214,14634066,14500635,12975309,12794752,12761893,12477932,12471113,12466117,12397645,11994433,11911831,11780052,11181995,10655513,10470851,11390428,19483191,19587706,19644047,19748482,19821006,20007581,20187130,20392250,20597837,19913121,20567955,20628086,20591579,20962851 8771 NM_003823,NM_032945,AF217796,AL121845,CH471077,AF104419,AF134240,AF217793,AF217794,AY358279,BC017065,BC034349,AL353715 NP_003814,NP_116563,AAF35244,CAC03668,EAW75242,EAW75243,EAW75244,EAW75246,EAW75247,EAW75248,AAD03056,AAD29688,AAF33685,AAF33686,AAQ88646,AAH17065,AAH34349,O95407,Q6ZNJ0 Hs.434878 DCR3|DJ583P15.1.1|M68|TR6 OTTHUMP00000031583|decoy receptor 3|decoy receptor for Fas ligand|tumor necrosis factor receptor superfamily member 6B protein-coding 737226 TNFRSF8 tumor necrosis factor receptor superfamily, member 8 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq] 734719,2312735,1580863 20166880,17175343,12799531,12648280,12568298,12557237,12553555,12477932,12389614,12165500,12091351,11986285,11971184,11960307,11918534,11891807,11754357,11728464,10764746,10641597,9511754,9353251,9168896,9104814,8999898,8839832,8183550,7527901,6754630,2537734,1330892,8662842,20568250,20814632,20631311,20591497,8627180,1310894,10192335,16108830,19415777,19243308,19131627,19126420,19100394,19100393,19040559,19032830,19010142,18983807,18926413,18793267,18714536,18689277,18589105,18365380,18320364,18201430,18187570,18165785,18049429,18047935,17973241,17965727,17912490,17889168,17853188,17853184,17616534,17557078,17241668,17175368,17103120,16980071,16842522,16771810,16722935,16651853,16641601,16378078,16372246,16152613,16108827,15996240,15990453,15964393,15919463,15880060,15876358,15782119,15644135,15356338,15301860,17106517,15291361,15265955,15175022,15050749,15033921,15026356,14726963,12875982,20625494,16244703,19540595,19641626,19765439,19773279,19782609,19862340,19890350,19898220,20036333,20061689,20237496,20353374,20379614,20430176 734719,2312735 943 NM_001243,NM_152942,AJ272029,AJ289159,AL357835,AY498860,CH471130,BC063482,BC073839,BC136400,BC141804,BC171762,D86042,M83554,S75768,HI179076,HI179078,HI574144,HI574146 NP_001234,NP_694421,CAC03488,CAC16652,CAH73719,AAR32099,EAW71730,AAH63482,AAH73839,AAI36401,AAI41805,BAA12973,AAA51947,AAD14188,P28908,Q6GMU3,Q9HCX5,CBX47561,CBX47562,CBX53846,CBX53847 Hs.1314 CD30|D1S166E|Ki-1 CD30 antigen|CD30L receptor|Ki-1 antigen|cytokine receptor CD30|lymphocyte activation antigen CD30|tumor necrosis factor receptor superfamily member 8 protein-coding 1312546 TNFRSF9 tumor necrosis factor receptor superfamily, member 9 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq] 1580863 8262389,8639902,19211796,18838252,18768897,18668547,18645038,18519814,18276843,18024793,17878400,17878391,17309825,16710414,16596186,16232366,15941918,15638367,15618293,15489334,15353478,15340161,15308117,15301860,15031666,14716821,13130507,12645943,12516549,12477932,12384425,12356681,12101260,12009595,11970964,11828369,11804328,10604232,10556203,9607925,9541583,9464265,9418902,9207223,9045669,8088337,7622190,20568250,2784565,19406689,19573080,19759901,19773279,20008291,20026323,20190752,20237496,20347151,15342556,20616340,19913121,20628086 3604 AAB34924 NM_001561,AL009183,AY438976,CH471130,BC006196,L12964,U03397,AK125490,AW449076,BP381234 Q6ZUN9,NP_001552,CAB57398,AAR05440,EAW71590,AAH06196,AAA62478,AAA53133,AAB34924,Q07011,ABM83623,ABM87245,BAC86181 Hs.654459,Hs.86447 4-1BB|CD137|CDw137|FLJ43501|ILA|MGC2172 4-1BB ligand receptor|CD137 antigen|T cell antigen ILA|T-cell antigen 4-1BB homolog|T-cell antigen ILA|homolog of mouse 4-1BB|induced by lymphocyte activation (ILA)|interleukin-activated receptor, homolog of mouse Ly63|receptor protein 4-1BB|tumor necrosis factor receptor superfamily member 9 protein-coding 1344832 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. [provided by RefSeq] 2312743,2312742,2312747,2312737,2312746,2290500,2312738,1580863,2312739,2312740,2312744,4143170,2312745,4143171 16607283,16574768,16518756,16514644,16478725,16459719,16455983,16449964,16436464,16382051,16368536,16289694,16288714,16245299,16229016,16226105,16215673,16206163,16199534,16180223,16178278,16174727,16166346,16116625,16082383,16041267,16040132,16037944,16026644,16007425,15996036,15962328,15916713,15887227,15884050,15828026,15809718,15806163,15792357,15774464,15767553,15760909,15757891,15688023,15681838,15671071,15655781,14644197,8777713,8663110,12761501,10894160,19629467,19573080,19519609,19481529,19453261,19435900,19418484,19412666,19406930,19404407,19385057,19361506,19349211,19309556,19289465,19281785,19265041,19261616,19221598,19212626,19203346,19197243,19147771,19106633,19074831,19074436,18942021,18922903,18838202,18834856,18814951,18802096,18780288,18772312,18726983,18723061,18644981,18640940,18599488,18599181,18566412,18522940,18519235,18502726,18491232,18483205,18474604,18451172,18430896,18424742,18413764,18385934,18375389,18362891,18362888,18348311,18343496,18341587,18339897,18338379,18330721,18314443,18287563,18284918,18266968,18266928,18233993,18202704,18187663,18178561,18174230,17803681,17767167,17765202,17703232,17702740,17701086,17697742,17686764,17683987,17638906,17617740,17583676,17579120,17571163,17558561,17553352,17548900,17544413,17540725,17525260,17513605,17495957,17479107,17431792,17431115,17420249,17384675,17356300,17352408,17314102,17278883,17195089,17187253,17110373,17079165,17070520,17012835,16951203,16950202,16941746,16887991,16863850,16857810,16831934,16820090,16807984,16785986,16751802,16731632,16645643,16627981,15650163,15637055,15634757,15615731,15607733,15569667,15558024,15557763,15539085,15531913,15520016,15511228,15509531,15498932,15489334,15475369,15459191,15459016,15361826,15339846,15326479,15308561,15292354,15286701,15285015,15257094,15256058,15251327,15241475,15205263,15201983,15137068,15110168,15094456,15093732,15077162,15064358,15041704,15033706,15030996,14742697,14729397,14726404,14715264,14691451,14675194,14670183,14647456,14645705,14637151,14601052,14534533,12969966,12934102,12927928,12920112,12915677,12915532,12907654,12874246,12839575,12813457,12808117,12787570,12767990,12761581,12738989,12715915,12707267,12663665,12642868,12604406,12592338,12576447,12574346,12556488,12539042,12532461,12517970,12496482,12488957,12477932,12447876,12445619,12439929,12429913,12421989,12421985,12421926,12414956,12407100,12398939,12359235,12351634,12221720,12198154,12140294,12118245,12097388,12097384,12082629,15653751,18089811,18063697,18057577,18031928,18006836,18006832,18006822,17983809,17982483,17956986,17947462,17940338,17932312,17913827,17907960,17900262,17895594,17884184,17881904,12082620,12036888,12029096,11994437,11964312,11956660,11940602,11936954,11877293,11852102,11844843,11830480,11781716,11739488,11677236,11568006,11553609,11466352,11385301,11243698,11095979,11059770,11027498,11022932,10960444,10651627,10549288,10542098,10485660,9830064,9754559,9613612,9520411,20339295,19058836,19533303,17554866,18243765,19223770,19236007,19270498,19294332,19305384,19398149,19407827,19427028,19449143,19470406,19476940,19540229,19587531,19597472,19632771,19671825,19674787,19690337,19724854,19749795,19773279,19782681,19802013,19854352,19890662,19896469,19948942,19954364,19954896,19956887,19962668,19962958,19967427,20007807,20042498,20119620,20123409,20150555,20154087,20189551,20204286,20237496,20308427,20334827,20394499,20417200,20443055,20393185,20424169,20638385,20354842,20580868,20560677,9430226,9325248,9314565,9311998,9242610,9082980,8793301,16046522,15990565,11094155,16169070,15451437,15619633,20372797,20580220,20671119,20811726,21064084,16344560,20400979,20379197,20839416,21047948,20628624,20638129,20568250,20802294,20819778,20961336 2312743,2312742,2312747,2312737,2312746,2290500,2312738,2312739,2312740,2312744,4143170,2312745,4143171 8743 NM_003810,AC007919,AC016938,AF178756,CH471052,CQ892411,EF064708,AK296085,AK312742,BC009795,BC020220,BC032722,BT019564,CR456895,CR594331,CR598109,DQ848564,EU183231,U37518,U57059,DA041872,DA969653,NM_001190942,NM_001190943,NR_033994,CS276168,HA637646 NP_003801,EAW78465,EAW78466,EAW78467,CAH68809,ABK41891,BAG58840,BAG35612,AAH32722,AAV38371,CAG33176,ABI24016,ABW24658,AAC50332,AAB01233,P50591,Q6IBA9,ABM81799,ABM84955,NP_001177871,NP_001177872,CAL33971,CAZ39545 Hs.478275 APO2L|Apo-2L|CD253|TL2|TRAIL Apo-2 ligand|TNF-related apoptosis inducing ligand TRAIL|TNF-related apoptosis-inducing ligand|tumor necrosis factor (ligand) family, member 10|tumor necrosis factor apoptosis-inducing ligand splice variant delta|tumor necrosis factor ligand superfamily member 10 protein-coding 1347343 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq] 1580863,2302361,2302324,2302363,1625350 15248232,18606301,20033478,20663885,20167120,9568710,9312132,9367155,17241109,10708588,19554506,19548455,19453261,19416721,19401376,19379170,19352306,19325145,19299513,19299182,19298221,19190327,19185505,19170075,19158438,19131500,19112497,19105036,19085839,19079262,19073256,12756027,12702561,12698202,12682046,12619938,12574344,12564836,12477932,12469211,12393684,12393586,12364326,12221720,12043011,11792569,11741951,11606048,10635328,10580503,10224132,9520411,9396779,15320903,15449141,11751921,19008470,18928898,18802807,18767923,18754324,18727653,18710934,18668542,18645583,18634923,18617513,18606662,18586671,18565252,18565244,18556224,18539107,18528653,18502820,18480302,18445777,18435789,18406448,18399769,18389210,18381203,18369625,18367263,18362509,18361931,18319315,18311801,18305214,18301383,18298349,18271850,18253488,18208894,18174230,18172654,18073309,18072013,18064531,18061491,17993768,17990294,17982618,17970704,17966895,17895323,17891780,17881498,17876645,17852826,17703334,17702740,17667143,17634142,17634140,17632511,17620507,17606458,17593489,17572386,17560137,17558893,17520299,17506059,17448630,17331078,17328075,17328065,17288531,17197168,17195907,17151927,17133360,19058084,17053039,17042716,17018528,16969487,16953816,16925460,16861684,16730419,16704959,16700737,16681444,16612568,16583245,16572175,16533764,16522681,16317958,16270354,16249885,16240334,16234249,16220542,16215261,16144909,16143421,16133687,16109714,16052586,15972386,15894268,15794927,15732858,15731115,15722361,15710592,15671541,15615497,15615493,15613999,15564564,15554353,15489334,15476205,15377473,15322748,15313187,15304486,15292354,15290725,15221493,15205949,15044512,14751235,14734048,14699143,12975380,12954625,12923331,12824189,12817763,20225273,19058836,19716455,20084381,20690034,19913121,20534768,20554715,20628086,20631064,16191370,19415676,19446344,19449178,19458885,19473572,19502537,19546479,19556344,19633200,19662974,19671684,19699688,19705167,19781765,19793762,19810098,19877052,19896533,19934266,19940926,19967657,20066901,20157786,20205168,20231205,20237496,20333869,20379614,20431232,20531232,20533289,20881963,21102463,21124946,20974615 2302361,2302324,1625350 8600 NM_033012,NM_003701,NG_008990,AL139382,CH471075,CS110677,AA504211,AB037599,AB061227,AB064268,AB064269,AB064270,AF013171,AF019047,AF053712,BC040889,BC074823,BC074890,BC117286,BC117288,BQ007726,GM980137 NP_143026,NP_003692,CAI16926,EAX08679,EAX08680,EAX08681,CAJ09926,BAA90488,BAB71768,BAB79693,BAB79694,BAB79695,AAC51762,AAB86811,AAC39731,AAH74823,AAH74890,AAI17287,AAI17289,O14788,Q54A98,Q5T9Y4,CAX24322,ADR83357 Hs.333791 CD254|ODF|OPGL|OPTB2|RANKL|TRANCE|hRANKL2|sOdf OTTHUMP00000178585|TNF-related activation-induced cytokine|osteoclast differentiation factor|osteoprotegerin ligand|receptor activator of nuclear factor kappa B ligand|receptor activator of nuclear factor kappa-B ligand|tumor necrosis factor ligand superfamily member 11 protein-coding 1350160 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Some transcripts that skip the last exon of this gene and continue with the second exon of the neighboring TNFSF13 gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq] 1580863 14961121,9560343,19349318,19018248,18992019,18945991,18945822,18606850,18465450,18174230,17981571,17918252,17548657,17383968,17178215,17124496,17018610,20303491,20430947,12529173,19233685,19398263,19473660,19482507,19505454,19531747,19773279,19785730,19828625,19854517,19895311,19963275,20164033,20299688,20385556,16526941,16503147,15735761,15681834,15611130,15604260,15489334,15353286,15140220,15056843,12975309,12787562,12496418,12477932,12445828,12421989,11839778,11777967,11728344,11094155,10706675,10085077,9405449,16888023,19000449,20189297,20382683,20004376,20610643,20726330 8742 NM_003809,AB222993,AC016876,CH471108,AF030099,AF055872,AI091441,AY358870,BC019047,BC071837,BC104420,NR_037146 NP_003800,BAE16557,EAW90179,AAC51923,AAC39724,AAQ89229,AAH19047,AAH71837,AAI04421,O43508,Q4ACW9 Hs.54673 APO3L|DR3LG|MGC129581|MGC20669|TWEAK APO3 ligand|APO3/DR3 ligand|OTTHUMP00000205659|TNF-related WEAK inducer of apoptosis|tumor necrosis factor ligand superfamily member 12 protein-coding 1601902 TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough transcript This gene encodes a member of the tumor necrosis factor superfamily. It encodes a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The hybrid protein is membrane anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. [provided by RefSeq] 15846369,12411489,12370363,11571266,10973284,10956646,10706119,9743536,20967262,19913121,20628086,14555217,17307753,18295728,18474519 407977 NM_172089,AC016876,AI954750,AY081051,BQ016244 NP_742086,AAL90443,Q8IZK7,AAI56812 Hs.54673 TWE-PRIL TNFSF12-TNFSF13 protein|tumor necrosis factor (ligand) superfamily, member 12-member 13 protein-coding 1314162 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. Other transcripts that skip the last exon of the upstream gene (TNFSF12) and continue with the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq] 1580863 9743536,14988498,19321861,19291294,19141538,19074885,18838478,18718031,18618015,18403603,18328673,18204790,18046446,17968879,17942754,17896803,17768131,17569747,17353162,17307753,17190854,17178712,17119122,16931039,16919470,16916610,16914324,16793914,16239971,16094704,16087247,15981083,15860672,15851487,15846369,15827134,15542592,15489334,15488762,15105291,15070697,14978135,14702039,14691452,14607922,14504101,12975309,18366696,18423122,19037609,19175985,19395025,19456850,19466596,19565488,19573080,19573525,19741596,19758161,19788740,19806256,19824872,19828625,19840904,19842833,19909733,19997650,20003335,20116334,20237496,12730512,12477932,12411489,12370363,12154359,12070306,11571266,10973284,10956646,10706119,10662545,10331498,9373149,8125298,20302641,19913121,20628086 8741 NM_003808,NM_172088,NM_172087,AB222992,AC016876,AF513501,AF046888,AF114011,AF114012,AF114013,AF136294,AF184972,AI828515,AK090698,AK225556,AK314518,AY081050,AY358880,AY377858,BC008042,BI764562,BI910977,BT019561,BT019562,CR542040,CR542073,DQ149579,EF211088,HC049981,HC086525,HH836204,CH471108,AK301221,BF793371,NM_001198622,NM_001198623,NM_001198624,HA635674 NP_003799,NP_742085,NP_742084,BAE16556,AAM47279,AAC61312,AAF59828,AAF59829,AAF59830,AAD29422,AAF01321,BAG52214,AAL90442,AAQ89239,AAQ91388,AAH08042,AAV38368,AAV38369,CAG46837,CAG46870,ABA39072,ABQ88322,O75888,Q2QBA2,Q541E1,Q6FGN4,Q6FGR7,Q6U6I7,Q8NFH7,ACE87425,ACE86739,CBH32718,CBI67654,CBX33275,EAW90175,BAG62794,NP_001185551,NP_001185552,NP_001185553,CAZ39531 Hs.54673 APRIL|CD256|FLJ57090|TALL-2|TALL2|TRDL-1|UNQ383/PRO715|ZTNF2|ligand OTTHUMP00000174781|OTTHUMP00000174782|OTTHUMP00000174783|TALL-2|TNF- and APOL-related leukocyte expressed ligand 2|TNF-related death ligand 1|a proliferation inducing ligand|a proliferation-inducing ligand|tumor necrosis factor (ligand) superfamily member 13 transcript variant delta|tumor necrosis factor ligand superfamily member 13|tumor necrosis factor ligand superfamily member 13 epsilon|tumor necrosis factor-like protein ZTNF2|tumor necrosis factor-related death ligand-1 protein-coding 1345205 TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. [provided by RefSeq] 1580863 20561430,11714784,20568250,20802378,20813000,20927378,20956327,20357250,20546021,10359578,10908663,19439611,19421221,19383901,19366834,19339060,19291294,19249491,19190830,19168788,19135236,19124722,19118513,19074885,19051265,19026118,19005881,18988879,18852352,18843286,18784835,18775026,18718031,18715196,18687360,18668552,18641361,18628489,18625509,18617551,18606652,18586330,18566393,18556064,18551073,18528969,18490739,18410958,18403603,18366696,18350548,18328673,18249037,18243342,18204790,18174230,18172003,18064389,18050196,17988587,17942754,17908986,17907168,17896803,17825416,17640886,17592744,17584580,17556024,17530706,17469105,17442944,17393290,17346422,17296586,17257595,17119117,16931039,16931038,16931037,16919470,16916610,16916609,16914324,16863659,16840730,16838132,16825497,16818641,16802367,16740602,16623930,16604261,16547227,16507129,16497967,16475789,16356193,16304043,16301744,16242914,16239971,16052575,15981083,15860672,15843552,15827134,15728515,15634908,15542592,15489334,15470519,15358625,15251985,15230285,15070697,14978135,14673998,14630796,14607922,14504101,12975309,12867412,12865416,12755599,12721620,12715002,12531790,12477932,12424625,12408045,12389615,12370363,12351410,12154359,12149433,12115621,11862220,11853672,11827482,11823048,17947475,11509692,11509691,10973284,10801128,10661873,10398604,10347144,10331498,10956646,10880535,17963166,18637712,19028483,19175985,19187273,19393234,19395025,19499314,19545677,19565488,19604268,19758161,19773279,19774453,19794139,19828625,19840904,19841639,19863844,19877053,19909733,19935379,20004378,20089415,20237496,20302641,20428981 10673 NM_001145645,AB073225,AL157762,CH471085,AF116456,AF132600,AF134715,AF136293,AF186114,AK309629,AW151367,AW963062,AY129225,AY129226,AY129227,AY129228,AY302751,AY358881,NM_006573,BC020674,BI818459,BQ776352,BX482686,CR541818,D79690,HM636064 NP_006564,NP_001139117,BAB90856,CAH70631,EAX09099,EAX09100,EAX09101,AAD25356,AAD21092,AAF60219,AAD29421,AAF01432,AAN08421,AAN08422,AAN08423,AAN08424,AAP83164,AAQ89240,AAH20674,CAG46617,Q6FHD6,Q7Z5J2,Q8IZI4,Q8IZI5,Q8IZI6,Q9Y275,ABM82339,ABW03435,ADK91575 Hs.525157,Hs.596110 BAFF|BLYS|CD257|DTL|TALL-1|TALL1|THANK|TNFSF20|ZTNF4 ApoL related ligand TALL-1|B-cell activating factor|B-cell-activating factor|B-lymphocyte stimulator|Delta4 BAFF|TNF and ApoL-related leukocyte expressed ligand 1|TNF homolog that activates apoptosis|TNF- and APOL-related leukocyte expressed ligand 1|b lymphocyte stimulator|delta BAFF|dendritic cell-derived TNF-like molecule|tumor necrosis factor (ligand) superfamily, member 20|tumor necrosis factor ligand superfamily member 13B|tumor necrosis factor superfamily, member 13b|tumor necrosis factor-like protein ZTNF4 protein-coding 1352930 TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq] 1580863 12393901,9765287,10799510,19023130,18412315,18384455,18320356,18292573,17938804,17826757,17652173,17543278,17010447,16934497,16861346,16186421,15944326,15917993,15895390,15833878,15634882,15489334,15215185,15210782,15115612,12975309,12768436,12767529,12571250,12477932,12471113,12466117,12456019,12215452,11994433,11748260,11742858,11714797,11673523,11390428,11035077,10318773,9739048,9560343,9462508,16091223,12836198,11000208,20804734,20826693,19019090,19380287,19573080,19701890,19716382,19773279,19826934,20042587,20096889,20237496,20424473,20568250,21048031,20592286,20677014 8740 HI573998,NM_172014,AC008760,AF542509,CH471139,AF036581,AF064090,AK292037,AY028261,AY358812,BC018058,CR541854,CR541871,NM_003807,CS330726 CBX47488,NP_003798,NP_742011,AAN34658,EAW69072,EAW69073,AAC39563,AAC25169,BAF84726,AAK26160,AAQ89171,CAG46652,CAG46669,O43557,AAI52849,CAL00173 Hs.129708 CD258|HVEML|LIGHT|LTg|TR2 delta transmembrane LIGHT|herpes virus entry mediator ligand|herpesvirus entry mediator A|herpesvirus entry mediator ligand|herpesvirus entry mediator-ligand|ligand for herpesvirus entry mediator|tumor necrosis factor ligand superfamily member 14|tumor necrosis factor receptor-like 2|tumor necrosis factor superfamily member LIGHT protein-coding 737096 TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. An additional isoform encoded by an alternatively spliced transcript variant has been reported but the sequence of this transcript has not been determined. [provided by RefSeq] 1580863 20410491,20863486,19760754,20848476,20886065,21072187,12477932,11923219,11739281,10597252,9880523,9434163,11911831,12345,9872942,19422935,19262684,19174806,19124533,18758464,18757243,18587394,18422820,18338776,18287561,17935696,17663424,17513783,17371957,17030188,16966713,16604264,16221758,16061878,15760679,15207783,14568967,12882979,19251437,19522538,19543369,19786547,19815424,19839006,19885571,20018961,20125169,20150621,20176734,20237496,20367632,20473688,21102463,20349123 9966 NM_005118,NG_011488,AL390240,CH471090,AF039390,AF520785,AK291642,AK313721,AY434464,BC069435,BC074940,BC074941,BC104462,BC104463,GM872837 NP_005109,CAH73730,CAH73731,EAW87431,AAD08783,AAM77366,BAF84331,AAR98573,AAH69435,AAH74940,AAH74941,AAI04463,AAI04464,O95150,CAV13212 Hs.241382 MGC129934|MGC129935|TL1|TL1A|VEGI|VEGI192A TNF ligand-related molecule 1|TNF superfamily ligand TL1A|tumor necrosis factor ligand superfamily member 15|vascular endothelial cell growth inhibitor|vascular endothelial growth inhibitor-192A protein-coding 1312875 TNFSF18 tumor necrosis factor (ligand) superfamily, member 18 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq] 1580863 10074428,18924213,18689545,18378892,18040044,17914571,17602748,17449724,17360848,16955181,16874737,16397134,16179414,15489334,15326137,14521928,12975309,12477932,10037686,19423540,19573080,19773279,20190752,20237496,20331378,20406964,20438785,20228835,19913121,20628086,19760754,20568250 8995 NM_005092,AL031599,CH471067,CQ968998,AF117713,AF125303,AK313273,AY358868,BC069111,BC069319,BC093986,BC112032,BX473859 NP_005083,EAW90937,CAI38637,AAD19695,AAD22634,BAG36082,AAQ89227,AAH69111,AAH69319,AAH93986,AAI12033,Q6ISV1,Q9UNG2 Hs.248197 AITRL|GITRL|MGC138237|TL6|hGITRL AITR ligand|GITR ligand|activation-inducible TNF-related ligand|glucocorticoid-induced TNF-related ligand|glucocorticoid-induced TNFR-related protein ligand|tumor necrosis factor ligand superfamily member 18 protein-coding 1345164 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF4/OX4. It is found to be involved in T cell antigen-presenting cell (APC) interactions. In surface Ig- and CD40-stimulated B cells, this cytokine along with CD70 has been shown to provide CD28-independent costimulatory signals to T cells. This protein and its receptor are reported to directly mediate adhesion of activated T cells to vascular endothelial cells. [provided by RefSeq] 1580396,1580863 7913952,19357697,19092840,19029970,19029446,18998106,18987746,18832690,18718855,18674525,18501882,18398332,18356244,18174230,18060034,18059267,17666213,17584577,17185358,17166734,17016617,16924108,16710414,16275760,16272289,15750594,15470070,15356117,15218969,15100674,15034038,12798307,12624783,12477932,12134113,11346458,11197696,11069062,10358148,9862675,9603911,9418902,9378971,9108415,8642328,8076595,1996093,20844189,19951374,19913121,20628086,20677014,19083191,19494280,19573080,19578796,19663699,19773279,19778912,19838193,20012871,20139223,20190752,20237496,20331378,20568250,20848568,20861858,20881011,20962850,21068098 1580396 7292 NM_003326,NG_011477,AB007839,AB042988,AL022310,CH471067,AK297932,BC041663,BQ007105,CR542033,D90224,X79929 NP_003317,BAA31196,BAB18304,CAA18438,CAI20416,EAW90938,EAW90939,EAW90940,BAG60249,AAH41663,CAG46830,BAA14259,CAA56284,P23510,Q6FGS4,Q8IV74 Hs.181097 CD134L|CD252|GP34|OX-40L|OX4OL|TXGP1 CD134 ligand|OX40 antigen ligand|OX40L|TAX transcriptionally-activated glycoprotein 1|glycoprotein Gp34|tax-transcriptionally activated glycoprotein 1 (34kD)|tumor necrosis factor ligand superfamily member 4 protein-coding 1351958 TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. [provided by RefSeq] 1580863 8391931,19208589,18689277,18636124,16964309,16372246,12553555,12477932,11960307,11754357,11751393,11728464,10878352,9558389,9524575,9349718,8161776,7528856,20568250,19573080,19657367,19773279,20237496,21102463 944 NM_001244,AF006381,AF006382,AF006383,AF006384,AL133412,CH471090,AK313619,AL583443,BC093630,BC111939,L09753 NP_001235,AAB97877,CAI16733,EAW87432,EAW87433,BAG36381,AAH93630,AAI11940,AAA74594,P32971 Hs.654445 CD153|CD30L|CD30LG|MGC138144 CD153 antigen|CD30 antigen ligand|CD30 ligand|CD30-L|tumor necrosis factor ligand superfamily member 8 protein-coding 1343892 TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction. 1580863,2317353,2317346,2317348,2317349,2317352,2317350 8088337,19573080,19225975,19217084,19029446,18395851,18026115,17977894,17972956,17855813,17496895,16970683,16596186,16287062,16204238,15489334,15031666,14752253,14746806,13130507,12645943,12590704,12477932,11994439,11564827,10946324,10850651,10528187,9607925,9418902,9045669,8405064,16341674,20303781,19423540,19684160,19759901,19773279,20008791,20032458,20237496,20406964,20438785,20520765,20628624,20568250 2317353,2317346,2317348,2317349,2317352,2317350 8744 NM_003811,AC010503,CH471139,AI357267,AK313999,BC104805,BC104807,BM790119,BX107825,CR624086,U03398 NP_003802,EAW69076,EAW69077,BAG36711,AAI04806,AAI04808,AAA53134,P41273 Hs.1524 4-1BB-L|CD137L 4-1BB ligand|4-1BBL|homolog of mouse 4-1BB-L|receptor 4-1BB ligand|tumor necrosis factor ligand superfamily member 9 protein-coding 1346178 TNIK TRAF2 and NCK interacting kinase Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM] 1580863 17474147,18930710,10521462,19023125,18519826,17192257,15489334,15342639,15144186,12477932,12168954,19061864,10373574,9628581,11369779,18029348,19816403,20379614 23043 NM_015028,NM_001161560,NM_001161561,NM_001161562,NM_001161563,NM_001161564,NM_001161565,NM_001161566,NR_027767,AC026315,AC078793,AC092919,AC137517,CH471052,AB011123,AB017115,AF172264,AF172265,AF172266,AF172267,AF172268,AF172269,AF172270,AF172271,AK026470,AK291056,AW296249,BC018093,BC019081,BC055427,BC150256 NP_055843,NP_001155032,NP_001155033,NP_001155034,NP_001155035,NP_001155036,NP_001155037,NP_001155038,EAW78483,EAW78484,EAW78485,EAW78486,EAW78488,EAW78489,EAW78490,EAW78491,EAW78492,EAW78493,EAW78494,BAA25477,BAA76518,AAF03782,AAF03783,AAF03784,AAF03785,AAF03786,AAF03787,EAW78487,AAF03788,AAF03789,BAF83745,AAH19081,AAH55427,AAI50257,Q7Z4L4,Q9UKE5,Q9Y6Z1 Hs.34024 OTTHUMP00000213891|OTTHUMP00000213893|OTTHUMP00000213895|OTTHUMP00000213897|TRAF2 and NCK-interacting protein kinase protein-coding 1319697 TNIP1 TNFAIP3 interacting protein 1 1580863 11090181,9923610,19464428,19277210,19262574,19169254,18676680,18622428,18212736,17135485,17016622,16964243,16713569,16684768,16601202,16344560,16189514,15489334,15342556,15231748,14743216,14526201,12965196,12927788,12477932,12220502,12168954,10385526,9687515,8681136,7788527,19170196,19625176,19692168,19695220,19732752,19773279,19838193,19838195,20379614,20516000,20849588,21068098 10318 NM_006058,AC008641,CH471062,AB177543,AB177544,AB252970,AB252971,AB252972,AB252973,AB252975,AB252976,AB252977,AB252978,AB252979,AB252980,AB252981,AB252982,AJ011895,AJ011896,AK074400,AK290999,AK298685,AK299975,AK303573,AW612566,AY012155,BC007666,BC012133,BC014008,BP254790,BX640647,CR597905,CR604663,CR613241,D30755,DA752275,DA810872,U39403,U83844 NP_006049,EAW61688,EAW61689,EAW61690,EAW61691,BAF34946,BAF34947,BAF48787,BAF48788,BAF48789,BAF48790,BAF48792,BAF48793,BAF48794,BAF48795,BAF48796,BAF48797,BAF48798,BAF48799,CAA09855,CAA09856,BAF83688,BAH12846,BAH13185,BAH13988,AAG42154,AAH12133,AAH14008,CAE45793,BAA06416,AAC99999,AAB41438,Q05KP3,Q05KP4,Q15025,Q6N077,ABM84393,ABM87339 Hs.355141 ABIN-1|KIAA0113|NAF1|VAN HIV-1 Nef-interacting protein|Nef-associated factor 1 SNP|TNFAIP3-interacting protein 1|hVAN|nip40-1|virion-associated nuclear shuttling protein|virion-associated nuclear-shuttling protein protein-coding 1317070 TNIP2 TNFAIP3 interacting protein 2 TNIP2 binds to the C-terminal zinc finger domain of A20 (TNFAIP3; MIM 191163) and is involved in activation of the ERK (see MAPK3; MIM 601795) MAP kinase pathway in various cell types (Van Huffel et al., 2001 [PubMed 11390377]; Papoutsopoulou et al., 2006 [PubMed 16633345]).[supplied by OMIM] 12595760,14653779,15169888,19464428,18622428,17038805,16633345,16554025,16480954,16344560,14743216,14702039,12933576,12753905,12609966,12477932,12080044,11390377,11389905,10385526,19754427,19898481 79155 CR617764,CR624012,DA421921,NM_001161527,AL110117,AL121750,CH471131,AF372839,AJ304866,AK026176,AK096296,AL137262,BC002740,CR591629,CR592080,CR602013,NM_024309 Q8NFZ5,NP_077285,NP_001154999,EAW82514,EAW82515,EAW82516,AAM21315,CAC34835,BAB15382,BAG53250,AAH02740,CAM28233,CAM28252 Hs.726088 ABIN2|DKFZp434J1313|FLIP1|KLIP|MGC4289 A20-binding inhibitor of NF-kappa-B activation 2|A20-binding inhibitor of NF-kappaB activation-2|OTTHUMP00000219012|OTTHUMP00000219013|TNFAIP3-interacting protein 2|fetal liver LKB1-interacting protein protein-coding 1346864 TNIP3 TNFAIP3 interacting protein 3 17485448,17088249,14702039,14743216,11345586,12477932,18081698,19464428,19617629,20379614,19913121,20628086 79931 NM_024873,NM_001128843,AC105254,CH471056,AF277289,AJ320534,AK024815,AK290409,BC128408,CD367219,DC389224,EF585496,AC108027,AK301058,AK303192 NP_079149,NP_001122315,EAX05263,EAX05264,EAX05265,AAL02151,CAC85929,BAB15018,BAF83098,AAI28409,ABQ40006,Q96KP6,BAG62667,BAG64285 Hs.208206 ABIN-3|FLJ21162|LIND A20-binding inhibitor of NF-kappa-B activation 3|ABIN-3 beta|Listeria induced|OTTHUMP00000219821|OTTHUMP00000220003|TNFAIP3-interacting protein 3|TNFAIP3-interacting protein 3 beta|TNIP3 beta|listeria-induced gene protein protein-coding 1320828 TNK1 tyrosine kinase, non-receptor, 1 TNK1 is a nonreceptor tyrosine kinase. These kinases, like members of the SRC (MIM 190090) and JAK (see MIM 147795) families, mediate intracellular signaling downstream of receptor activation.[supplied by OMIM] 1580863 10873601,8632913,18830724,17471239,16344560,15489334,12477932,9373149,8125298,15778465,20090780,20413850,20534741,20574532 8711 NM_003985,AC113189,AF097738,CH471108,AI810287,AK225403,AK310684,BC035782,CR623896,DB287365,U43408,AK311063 NP_003976,AAC99412,EAW90203,EAW90204,AAH35782,AAC50427,Q13470,ABM82156,ABM85340 Hs.203420 MGC46193 CD38 negative kinase 1|non-receptor tyrosine-protein kinase TNK1 protein-coding 1346409 TNK2 tyrosine kinase, non-receptor, 2 This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq] 1580863 20359967,10802735,11799118,16169070,19815557,20086093,20110370,20432460,8497321,10360579,19167335,10587647,19144635,18477472,18435854,18262180,17494760,17109515,17081983,17038317,16777958,16316319,16288044,16247015,16137687,15951569,15592455,15489334,15308621,15146197,15123659,14733946,14506255,12522270,12477932,11394904,11278436,11087735,10882715,10684602,10652228,9373149,8647288,8125298,11700021,20333297,20936779 10188 Q5U2X5 NM_005781,NM_001010938,AC124944,CH471280,AB209338,AK024904,AK126712,AK127455,AK131539,AK225786,AK309332,BC008884,BC020389,BC028164,BE676668,BG742978,CN411136,L13738 NP_005772,NP_001010938,EAW50333,EAW50334,EAW50335,EAW50336,EAW50337,BAD92575,BAG54506,BAD18675,AAH08884,AAH28164,AAA53570,Q07912,Q59FX1,AAI56799,NP_001008337.1 Hs.518513 ACK|ACK1|FLJ44758|FLJ45547|p21cdc42Hs ACK-1|OTTHUMP00000208564|OTTHUMP00000208566|activated CDC42 kinase 1|activated Cdc42-associated kinase 1|activated p21cdc42Hs kinase|tyrosine kinase non-receptor protein 2 protein-coding ENSRNOG00000001769 1343497 TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1580863 9822378,12768206,18436240,17026964,18221737,11739745,11278563,11454873,18676680,18470924,18026951,17561506,16884355,16132700,16076287,15795250,15133513,15064417,14966275,14596906,12477932,12475993,12381316,12080061,11854288,11802774,10988299,10523501,10198177,9110174,8619474,11382755,20696165,19170196,19615732,19625176,19692168,19759176,19766477,19773453,19996280,20056641,20237496,20379614,20421936,20508983,20937264 8658 AC103834,AC103877,AC104052,CH471157,AB209339,AF070613,AF082556,AF082557,AF082558,AF082559,AK301798,AK302031,AK302534,AL706619,BC023578,BC098394,NM_003747,AC021242 EAW65579,EAW65580,BAD92576,AAC79841,AAC79842,AAC79843,AAC79844,BAG63250,BAG63428,BAG63806,AAH98394,O95271,Q4G0F2,Q59FX0,NP_003738 Hs.370267 PARP-5a|PARP5A|PARPL|TIN1|TINF1|TNKS1|pART5 TANK1|TNKS-1|TRF1-interacting ankyrin-related ADP-ribose polymerase|poly [ADP-ribose] polymerase 5A|tankyrase I|tankyrase-1 protein-coding 1323786 TNKS1BP1 tankyrase 1 binding protein 1, 182kDa 1580863 11854288,17617028,17081983,16964243,16244666,15652747,15345747,15302935,12693554,12477932,12168954,12080061,11214970,17452450,18377426 85456 NM_033396,AP000781,CH471076,AA614752,AB051528,AF441771,AK074113,AK124903,AK127871,BC023622,BC046216,BC150333,CR607285,CT003184 NP_203754,EAW73731,EAW73732,EAW73733,BAB21832,AAM15531,BAB84939,BAC85989,BAG54589,AAH23622,AAH46216,AAI50334,Q86TK2,Q9C0C2 Hs.530730 FLJ45975|KIAA1741|TAB182 182 kDa tankyrase-1-binding protein|tankyrase 1-binding protein of 182 kDa protein-coding 1312811 TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 1580863 18393764,18026951,16151859,15795250,15164054,14702039,12080061,11854288,11802774,11739745,11454873,11294570,11278563,11205898,10988299,16385451,19766477,20237496,20549820,20937264,21048031 80351 NM_025235,CH471066,AF264912,AF305081,AF309033,AF329696,AF342982,AF438201,AK023746,AK314612,AL833676,BQ019749,CR595012,AL359707 NP_079511,EAW50105,AAG44694,AAG25674,AAK82330,AAK13463,AAK25811,AAL40795,BAB14665,BAG37180,Q9H2K2,AAI48499,AAI56932,CAC78760 Hs.329327 PARP-5b|PARP-5c|PARP5B|PARP5C|TANK2|TNKL|pART6 TNKS-2|TRF1-interacting ankyrin-related ADP-ribose polymerase 2|poly [ADP-ribose] polymerase 5B|tankyrase 2|tankyrase II|tankyrase-2|tankyrase-like protein|tankyrase-related protein protein-coding 731806 TNMD tenomodulin 1580863 18982016,18838562,18580688,17495183,15772651,15342556,19381347,12975309,19524323,12477932,11357195,11162673,11162640,15150318,15950187,16019413,17627542,19602561 64102 NM_022144,AL035608,CH471115,AB055421,AF191770,AF234259,AF291656,AY358706,BC034030,BP319044,NG_013266 NP_071427,CAI42846,EAX02806,EAX02807,EAX02808,BAB21756,AAG28395,AAG49144,AAK83109,AAQ89069,Q9H2S6 Hs.132957 BRICD4|CHM1-LIKE|CHM1L|TEM BRICHOS domain containing 4|CHM1-like|chondromodulin I-like|chondromodulin-1-like protein|chondromodulin-I-like protein|chondromodulin-IB|hChM1L|hTeM|myodulin|tendin|tenomodulin protein-coding 1314366 TNN tenascin N 1580863 18306355,17909022,16710414,16335952,15592496,12812753,9817758,20589678,12477932 63923 NM_022093,CH471067,Z99297,Z99715,AK127044,AK127654,AL049689,BC136619,BC144305 NP_071376,EAW90986,CAI19966,CAI19286,BAG54428,CAB41260,AAI36620,AAI44306,Q9UQP3 Hs.156369 TN-W TN-N|tenascin-N protein-coding 1320524 TNNC1 troponin C type 1 (slow) Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq] 1580739 20459070,20378771,7957210,18092822,11735257,15542288,8205619,2250022,10850966,12093807,18820258,18803402,18572189,18063575,18042489,18032382,17977476,17693547,17446435,17021793,16302972,16157641,16157639,15808858,15628883,15524171,15489334,15147183,15134451,15049709,12939162,12840750,12732641,12477932,12122471,12060657,12044157,11904166,11385718,9560191,9448267,9346285,9315850,9219516,8995486,8987992,7103951,3951483,3166492,1907279,20566645,10806205,19439414,19542563,19808376,19920153,20031618,20128626,20215591,20371872,15601779,20889975,19492165 1580739 7134 NM_003280,NG_008963,AC006208,CH471055,M37984,AF020769,AJ574625,AK313743,BC030244,CR541865,CR541885,X07897,GU324920 NP_003271,EAW65226,EAW65227,AAA36772,AAB91994,BAG36483,AAH30244,CAG46663,CAG46683,CAA30736,P63316,Q6FH91,ABM81952,ABM85132,ADL14491 Hs.118845 CMD1Z|CMH13|TN-C|TNC|TNNC TN-C|cardiac troponin C|slow twitch skeletal/cardiac muscle troponin C|troponin C, slow skeletal and cardiac muscles|troponin C1, slow|troponin c, slow protein-coding 1323707 TNNC2 troponin C type 2 (fast) Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq] 1580863 17194691,2373703,15489334,12477932,11780052,9560191,9459007,9016781,7869399,3166492,978749,1907279,19913121,20628086 7125 NM_003279,AL050348,CH471077,M33772,AI080746,AK291323,AK300665,BC005323,BU854061,CR541864,CR541884,M22307,X07898 NP_003270,EAW75802,EAW75803,AAA61197,BAF84012,BAG62351,AAH05323,CAG46662,CAG46682,AAA91854,CAA30737,P02585,Q6FH92 Hs.182421 OTTHUMP00000039530|troponin C, skeletal muscle|troponin C2, fast protein-coding 732918 TNNI1 troponin I type 1 (skeletal, slow) Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq] 1580863 15367881,16338262,16358990,16916777,16236952,12809519,16189514,8987992,17099250,17051347,16381901,16005017,15489336,15489334,15289369,14702039,12857748,12815045,12477932,12044157,11230166,11076863,9724539,9373149,9016781,8144655,8125298,2341402,1959627,1934363,2365354,20817590 7135 AL832006,BC012600,BC012601,BI825503,BX510903,CR450301,CR541996,CR542030,J04760,AL831975,NM_003281,AC096677,CH471067,L21910,AJ315823,AK123965,AK223588,AK311896,AL831820,NG_016649 CAH56221,AAH12600,AAH12601,CAD91135,CAG29297,CAG46793,CAG46827,AAA61228,P19237,CAL37688,ABM83744,ABM87063,NP_003272,EAW91365,EAW91366,EAW91367,EAW91368,AAC14461,CAC44240,BAG53988,BAD97308,BAG34837,CAD38534 Hs.320890 DKFZp451O223|SSTNI|TNN1 OTTHUMP00000033877|OTTHUMP00000033910|troponin I, slow skeletal muscle|troponin I, slow-twitch isoform|troponin i, slow isoform protein-coding 1344978 TNNI2 troponin I type 2 (skeletal, fast) This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1599481,1580863 17194691,18331830,18805052,18548613,17393089,16924011,16802141,15489334,15342556,15289369,12809519,12592607,12477932,12097349,11470454,10737800,10721725,10077564,9724539,9560191,9448267,9016781,8987992,8681137,8148383,6847627,2365354,7103951,15967462,7118902,19913121,20628086 1599481 7136 NM_003282,NG_011621,NM_001145829,NM_001145841,AC051649,AJ245761,CH471158,AW984315,BC032148,BI833431,BP233165,BQ926240,F36243,L21715 NP_003273,NP_001139301,NP_001139313,CAB59981,EAX02467,EAX02468,EAX02469,AAH32148,AAA19813,P48788,ABM82908,ABM86098 Hs.523403 AMCD2B|DA2B|FSSV|fsTnI OTTHUMP00000014141|OTTHUMP00000014142|fast-twitch skeletal muscle troponin I|troponin I fast twitch 2|troponin I, fast skeletal muscle|troponin I, fast-twitch isoform|troponin I, fast-twitch skeletal muscle isoform|troponin I, skeletal, fast|troponin i, skeletal, fast protein-coding 737204 TNNI3 troponin I type 3 (cardiac) Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq] 1580419,1580420,1580421,1580422,1580863 14575308,19925440,20378771,20523292,20555264,20588136,20025646,10806205,12809519,7957210,11984006,12721663,11735257,15542288,11815426,10850966,12093807,19590045,19463339,19387251,19372185,19321456,18042489,18032382,17710247,17594788,17587709,17574519,17303066,17140583,17101185,16916777,16887211,16765375,16754800,16516408,16358990,16338262,16338248,16302972,16288990,16236952,16199542,16157639,15961398,15867176,15718266,15698845,15607392,15604421,15601779,15367881,15350489,15257080,15147183,15134451,15070570,15049709,14661957,14596793,19299763,19293840,19221927,19150014,19149795,19145004,19090253,19035361,19016149,19008306,19003742,18986304,18976355,18810980,18760145,18682663,18569954,18513529,18445579,18430738,18403758,18381864,18175163,18094010,18092822,18064406,18042776,12477932,12383268,12270775,12242268,12151382,12122471,12060657,12044157,11904166,11853553,11801593,11596911,11121119,10387074,10191089,9605869,9560191,9373149,9346285,9241277,9219516,8798526,8661099,8406024,8125298,2584239,2226863,2226790,1959915,1934363,14551240,12974739,12967628,12939162,12840750,12826210,12803836,12732641,12707239,12626203,12531876,12525172,20043329,18571749,18835219,19426736,19455094,19523464,19571537,19580729,19651143,19696481,19797054,19833747,19853701,19875404,19920153,20008898,20030529,20031618,20035081,20086309,20215591,20359594,20474083,20188720,20975235,20889975,20140242,20624503,20800588,20817590 1580419,1580420,1580421,1580422 7137 NM_000363,NG_007866,AC010327,X90780,AK223451,BC096165,BC096166,BC096167,BC099631,BT019517,CR541985,CR542012,EU747720,M64247,X54163,GU324921 NP_000354,CAA62301,BAD97171,AAH96165,AAH96166,AAH96167,AAH99631,AAV38324,CAG46782,CAG46809,ACH92818,AAA16157,CAA38102,P19429,Q6FGU5,Q6FGX2,ADL14492 Hs.709179 CMD1FF|CMD2A|CMH7|MGC116817|RCM1|TNNC1|cTnI cardiac troponin I|familial hypertrophic cardiomyopathy 7|troponin 1, type 3|troponin I, cardiac muscle protein-coding 1345235 TNNI3K TNNI3 interacting kinase 1302422 19925440,11329013,20808825,18205602,12721663,18552163,17660584,15815621,15489334,12477932,20569525,19913121,20628086,20935630,18029348,19359327 1302422 51086 AA758546,BG187210,BX502807,NM_015978,AC093158,AC098692,AC105271,AC119672,BX470253,CH471059,DQ822519,AF116826,AK307984,AY303691,BC113539,BC117262 NP_057062,CAI16293,EAX06415,ABG46944,AAD29632,AAP72030,AAI13540,AAI17263,Q59H18,ADR83282 Hs.480085 CARK|MGC142099|MGC33828 OTTHUMP00000011169|TNNI3-interacting kinase|cardiac ankyrin repeat kinase|serine/threonine-protein kinase TNNI3K protein-coding 733051 TNNT1 troponin T type 1 (skeletal, slow) This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,737736 15967462,15665378,18032382,10952871,18579801,16189514,15761153,15495263,15489334,12477932,11904166,10601315,10529204,10451243,10191089,9724539,9448267,8987992,8681137,8403232,8135831,6822572,3611073,2824479,2687327,1706783,1551677,1505979,1473264,16169070,19326042,19541721,19690080,19916752,20038417,20380359,20889975,19913121,20628086 737736 7138 NM_001126133,NM_003283,NM_001126132,NG_011829,AC010327,AJ011712,AJ011713,CH471135,S66057,AK291352,AK308199,AY762903,AY762904,BC007074,BC010963,BC022086,BC034143,BC107798,BT019630,CR591342,CR615279,DC385695,F34258,M19308,M19309,S51938,S69208,S69209 NP_001119605,NP_003274,NP_001119604,CAA09750,CAA09751,CAA09752,EAW72336,EAW72337,EAW72338,EAW72339,AAD13978,BAF84041,AAX07831,AAX07832,AAH07074,AAH10963,AAH22086,AAH34143,AAI07799,AAV38436,AAA61205,AAA61204,AAB30272,AAB30273,P13805,Q05DL6,Q3B759,Q56R93,Q56R94 Hs.631558 ANM|FLJ98147|MGC104241|STNT|TNT|TNTS slow skeletal muscle troponin T|troponin T, slow skeletal muscle|troponin t1, skeletal, slow|troponin-T1, skeletal, slow protein-coding 732398 TNNT2 troponin T type 2 (cardiac) The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq] 1559062,1580232,1580434,1580439,1580440,1580441,1580442 8205619,10850966,15542288,12186860,15923195,16754800,19412328,19359536,19330751,20472389,20975235,20378771,19293840,12923187,19275886,19253838,19150014,19149795,19061534,19035361,19016149,18785956,18780659,18719346,18651846,18645057,18513529,18506004,18460953,18403758,18322550,18174208,18065785,18063145,18037101,18032444,18032382,18029407,17891611,17848144,17672918,17612745,17512511,17289431,17101185,16882671,16789403,16776629,16716613,16651346,16338248,16199542,16115869,15950076,15769782,15759546,15673967,15604421,15568820,15563892,15524172,15524170,15387941,15226628,14986170,14736877,14722098,14702039,14636924,12974739,12881443,12840750,12832403,12819028,12760310,12732643,12707239,12477932,12473556,12206807,12093807,12087140,12084606,11931771,11857753,11684629,11262409,11106718,11034944,10978365,10610467,10529204,10525521,10451243,10405326,9714088,9560191,9482583,9219516,9140840,9060892,8989109,8798526,8576938,8521556,8344420,8088824,7981753,7898523,7895342,7534662,7498159,6746613,6205765,3581171,2584239,11904166,19459818,19615100,19736474,19808368,19833747,19853701,19875404,19880069,19920153,20031601,20031618,20031650,20038417,20083571,20093942,20101793,20201937,20299689,20359594,20414521,20474083,2530435,20512449,19356187,19359810,19454539,17207965,20677290,19887861,19913121,20624503,20628086,20800588 1559062,1580232,1580434,1580439,1580440,1580441,1580442 7139 Y09626,Y09627,Y09628,AK055533,AK125236,AK290621,AK309493,AL832707,AY277394,BC002653,L40162,S64668,S71126,X74819,X79855,X79856,X79858,X79859,X79861,X83743,NM_001001432,NM_001001431,NM_001001430,NM_000364,NG_007556,AC119427,AF004415,AF004422,AY044273,AY160216,CH471067,EF179183,S71128 CAA70839,CAA70840,CAA70841,BAF83310,AAP96757,AAH02653,AAA67422,AAB27731,AAB30956,CAA52818,CAA56235,CAA56236,CAA56238,CAA56239,CAA56240,P45379,Q15607,Q15608,Q7Z554,Q8IZA1,Q9BUF6,NP_001001432,NP_001001431,NP_001001430,NP_000355,AAC39590,AAK92231,AAN71651,EAW91353,EAW91354,EAW91355,EAW91356,EAW91357,EAW91358,EAW91359,EAW91360,EAW91361,EAW91362,ABN05286,AAB30957,ADQ31899 Hs.533613 CMH2|CMPD2|LVNC6|MGC3889|RCM3|TnTC|cTnT OTTHUMP00000033864|OTTHUMP00000033865|OTTHUMP00000033866|OTTHUMP00000033867|OTTHUMP00000033870|OTTHUMP00000218095|cardiac muscle troponin T|cardiomyopathy, dilated 1D (autosomal dominant)|cardiomyopathy, hypertrophic 2|troponin T, cardiac muscle|troponin T2, cardiac|troponin t2 protein-coding 737137 TNNT3 troponin T type 3 (skeletal, fast) 1580863,1599490 20453838,20066428,17194691,8987992,9724539,15507453,19142688,16344560,16169070,16081096,15967462,15489334,14702039,12865991,12761854,12477932,9508073,9012416,8838323,8681137,8172653,8062920,7118902,18629027,19326042,19913121,20628086,20634891 1599490 7140 NM_001042781,NM_006757,NM_001042780,NM_001042782,AC051649,AF026276,CH471316,AI161366,AJ571879,AK056968,BC050446,BC062430,BC117327,BC143537,BC171727,BC171728,BT019997,BX640689,CR541927,DA897990,DA899275,DQ778624,F26088,M21984,U14641,U14642,U14643,U14644,NG_013085 NP_001036246,NP_006748,NP_001036245,NP_001036247,AAF21629,EAW50569,BAG51835,AAH50446,AAH62430,AAI17328,AAI43538,AAI71727,AAV38800,CAE45814,CAG46725,ABG77458,AAA36777,AAA50359,AAA50360,AAA50361,AAA50362,P45378,Q6P670,ADR82881 Hs.73454 AMCD2B|DA2B|DKFZp779M2348|FSSV|TNTF OTTHUMP00000014435|OTTHUMP00000014437|OTTHUMP00000014438|OTTHUMP00000069617|OTTHUMP00000194823|OTTHUMP00000194824|beta TnTF|beta-TnTF|fTnT|fast skeletal muscle troponin T|troponin T, fast skeletal muscle|troponin t3|troponin-T3, skeletal, fast protein-coding 733923 TNP1 transition protein 1 (during histone to protamine replacement) Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM] 1580863 12743712,11315969,10781074,18727729,18292840,17852044,16989827,16291974,15489334,12477932,9809674,8019440,3412903,3382664,2250010,17207965,2249851,2040274,20378615,20522125 7141 NM_003284,AB281700,AC007557,CH471063,M59924,BC029516,CR601312,X07948 NP_003275,BAF36709,AAX88913,EAW70577,AAA61202,AAH29516,CAA30774,P09430,Q4ZG82,ADQ32665 Hs.3017 TP1 STP-1|TP-1|spermatid nuclear transition protein 1|transition protein 1 protein-coding 736031 TNP2 transition protein 2 (during histone to protamine replacement) 1580863 19607827,20800603,18978792,18727729,17852044,16989827,16291974,12775710,12477932,10659848,9809674,8961924,8428967,7983046,7711033,2250010,1395729,1385303,19710011,20378615,20522125 7142 BC096137,NM_005425,AB281701,AC009121,AF215715,CH471112,L03378,U15422,Z46940,AI220577,BC096135,BC096136,BX282422,X63758,X63759 NP_005416,BAF36710,AAF35854,EAW85161,EAW85162,AAA61203,AAC50488,CAA87067,AAH96135,AAH96136,AAH96137,CAA45290,CAA45291,Q05952,Q4VB54,Q4VB56 Hs.513349 MGC116783|MGC116785|TP2 TP-2|nuclear transition protein 2|transition protein 2 protein-coding 1318103 TNPO1 transportin 1 This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. [provided by RefSeq] 9436978,9430704,9366553,9298975,9275210,9202393,8986607,8521471,8105392,7604027,1631159,12384575,20606625,8808633,10353245,17474147,9144189,19124606,19057841,18846510,17997969,17936704,16704975,15507604,15489334,15342649,15037768,14702039,12905863,12614157,12551970,12477932,12414950,12368302,11824786,11774384,11682607,11389849,11278458,11035935,10888652,10875935,10860744,10772949,10688363,10668806,10525473,10366569,10202161,9891055,9817747,9687515,9632798,9621063,9582382,9562972,9463369,12620808,9405152,17643375,19549784,19641022,20308327 3842 NM_002270,NM_153188,AC008953,AC008972,AC035140,CH471084,AK055669,AK124768,AK299671,AK301021,AK308177,BC040340,CR592982,U70322,U72069,U72395 NP_002261,NP_694858,EAW95713,EAW95714,EAW95715,BAG61582,BAG62638,AAH40340,AAC50723,AAB58254,AAB68948,Q92973,ABW03429 Hs.482497 IPO2|KPNB2|MIP|MIP1|TRN M9 region interaction protein|OTTHUMP00000222024|importin 2|importin beta 2|importin beta-2|karyopherin (importin) beta 2|karyopherin beta-2|transportin-1 protein-coding 1321214 TNPO2 transportin 2 1580863 9298975,17353931,16901787,16344560,14981248,14702039,12477932,12384575,8681137,10875935,12896982,15037768,11729309,20606625,16169070 30000 NM_013433,NM_001136195,NM_001136196,AC018761,CH471106,AB210011,AF007748,AF019039,AK022217,AK056183,AK299485,AK307632,AL832114,BC018314,BC063679,BC072420,CR614361,CR615070,CR626762,DA100622,DA808781,DC377831,DC407313,F15550 NP_038461,NP_001129667,NP_001129668,EAW84299,EAW84300,EAW84301,BAE06093,AAB71349,AAB83973,BAG51640,BAG61447,AAH18314,AAH72420,O14787,Q05D48,Q4LE60,Q6IN77 Hs.416049,Hs.714402 FLJ12155|IPO3|KPNB2B|TRN2 importin 3|karyopherin beta 2b, transportin|karyopherin beta-2b|transportin 2 (importin 3, karyopherin beta 2b)|transportin-2 protein-coding 1318997 TNPO3 transportin 3 TNPO3 is a nuclear import receptor for serine/arginine-rich (SR) proteins, which are essential precursor-mRNA splicing factors (Kataoka et al., 1999 [PubMed 10366588]).[supplied by OMIM] 1580863 16344560,18187620,18727908,17353931,10366588,19479858,18204446,18204098,16730941,15489334,15231748,14702039,12690205,12477932,12134081,11517331,10713112,9373149,8125298,20639879,20639880,15829567,19615732,19846519,20379614,20861858 23534 AW051835,BQ774864,DA720844,DA773316,NM_001191028,NR_034053,NM_012470,AC018639,AC025594,CH236950,CH471070,AF145029,AJ133769,AK001263,AK022910,AK225999,AK312580,BC009221,BC009923,BC068530,CB992781,DA188633,NG_023428 NP_001177957,NP_036602,EAL24106,EAW83708,EAW83709,EAW83710,AAD38537,CAB42643,BAG50881,BAG51133,BAG35474,AAH09221,AAI56518,AAI72512,Q9Y5L0 Hs.193613 IPO12|MTR10A|TRN-SR|TRN-SR2|TRNSR OTTHUMP00000212901|OTTHUMP00000212902|OTTHUMP00000212903|imp12|importin 12|importin-12|transportin-3|transportin-SR protein-coding 732585 TNR tenascin R (restrictin, janusin) Tenascin-R (TNR) is an extracellular matix protein expressed primarily in the central nervous system. It is a member of the tenascin (TN) gene family, which includes at least 3 genes in mammals: TNC (or hexabrachion; MIM 187380), TNX (TNXB; MIM 600985), and TNR (Erickson, 1993 [PubMed 7694605]). The genes are expressed in distinct tissues at different times during embryonic development and are present in adult tissues.[supplied by OMIM] 20202125,8940128,19573479,18521090,18415014,17903302,17537973,16710414,16344560,14681222,12477932,11752456,11038354,10406848,9722619,9371410,9335257,9294172,9081628,8626505,7694605,9507007,19890582,20379614,20452482,20950796,20673868 7143 NM_003285,AL021919,AL023285,AL136530,CH471067,Z94055,Z94057,AK295823,AV650210,BC129830,DA804585,DB068074,X98085,Y13359,Z67996 NP_003276,EAW90994,EAW90995,CAI19943,CAI19944,CAI21650,BAG58640,AAI29831,CAA66709,CAA91947,Q92752 Hs.659864 MGC149328|TN-R OTTHUMP00000032802|janusin|restrictin|tenascin r|tenascin-R protein-coding 1344584 TNR1 Turner syndrome 1 7677140 7144 1351438 TNRC17 trinucleotide repeat containing 17 9225980 27321 U80752 CAGL234 miscrna 2291816 TNRC18 trinucleotide repeat containing 18 15146197,12853948,12477932,11347906,11181995,9847074,9225980,17370265 84629 NM_001080495,AC092171,AC093620,CH471144,AB058759,AI567212,AI738451,AK027341,AY129022,BC029940,BC036932,BC068099,BC131808,BX396597,CN295035,CR993399,DN990416,DR159642,U80753 NP_001073964,EAW87331,EAW87332,EAW87333,EAW87334,EAW87335,BAB47485,BAB55047,AAM98765,AAI31809,AAB91447,O15417,Q6YL37 Hs.727550 CAGL79|KIAA1856|TNRC18A OTTHUMP00000200617|long CAG trinucleotide repeat-containing gene 79 protein|trinucleotide repeat-containing gene 18 protein protein-coding 1345656 TNRC18B trinucleotide repeat containing 18B 27320 NG_009899,AC006015 TNRC18 hypothetical protein LOC27320|trinucleotide repeat containing 18 pseudo 2303660 TNRC18C trinucleotide repeat containing 18C (pseudogene) 340221 NG_009812,AC069152,AC122133 pseudo 1353307 TNRC21 trinucleotide repeat containing 21 9225980 27318 U80756 AAB91448,O15418 CAGL114 protein-coding 1319873 TNRC4 trinucleotide repeat containing 4 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. While several transcript variants may exist for this gene, the full-length nature of only one has been biologically validated to date. [provided by RefSeq] 1580863 19913121,20628086,16713569,11158314,17725984,14702039,12477932,10893231,9225980,16169070 11189 DR001924,NM_001172648,NM_001172649,AL589765,AY165053,CH471121,AB209264,AF284423,AF329264,AK123206,AK298852,AY165003,BC004145,BC041088,BC052491,BC068008,BC104758,BC143226,CR595146,U80746,U80759,NM_007185 NP_001166120,NP_001166119,NP_009116,CAI17166,CAI17167,CAI17168,AAN73886,EAW53419,EAW53420,EAW53421,EAW53422,BAD92501,AAG14457,AAK07474,BAG60975,AAN73884,AAH04145,AAH52491,AAH68008,AAI04759,AAI43227,AAB91444,AAB91450,O15419,Q59G45,Q5SZQ6,Q5SZQ7,Q5SZQ8,Q8IZ97,Q9BTF3 Hs.26047 BRUNOL1|CAGH4|CELF3|ERDA4|MGC57297|TNRC4 CAG repeat domain|CAG repeat protein 4|CELF-3|CUG-BP and ETR-3 like factor 3|CUG-BP- and ETR-3-like factor 3|CUGBP Elav-like family member 3|ELAV-type RNA-binding protein 1|ETR-1|OTTHUMP00000042873|RNA-binding protein BRUNOL-1|bruno-like protein 1|expanded repeat domain protein CAG/CTG 4|expanded repeat domain, CAG/CTG 4|trinucleotide repeat containing 4|trinucleotide repeat-containing gene 4 protein protein-coding 1607049 TNRC6A trinucleotide repeat containing 6A This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq] 4144862 17671087,19324964,19056672,18946079,18345015,16906129,16880270,16815998,16418578,16284623,16284622,16177138,15908945,15494374,20198652,15489334,14702039,14598044,13130130,12831532,12477932,11950943,10819331,10737800,9225980,8889548,8781769,17938239,19383768,20181956,20402672,20936779 4144862 27327 NM_014494,AC002565,AC008731,CH471145,AB040893,AJ492221,AK001773,AK025277,AK025696,AK094542,AK299905,AL713750,AL833757,AY035864,BC024324,BC068209,BE158958,BU743266,U23860,U80739 NP_055309,EAW55782,EAW55783,EAW55784,EAW55785,EAW55786,EAW55787,BAA95984,CAD37348,BAA91899,BAG52884,BAG61746,CAD28525,CAH56236,AAK62026,AAH24324,AAB91438,Q8NDV7,AAI72409 Hs.655057 CAGH26|DKFZp666E117|FLJ22043|GW1|GW182|KIAA1460|MGC75384|TNRC6 CAG repeat protein 26|EDIE|EMSY interactor protein|GW182 autoantigen|OTTHUMP00000195164|OTTHUMP00000195165|glycine-tryptophan protein of 182 kDa|trinucleotide repeat-containing gene 6A protein protein-coding 1350349 TNRC6B trinucleotide repeat containing 6B 1580863,4144862 20690139,16344560,16713569,19383768,19549807,19570815,20696395,18029348,19117981,16880270,16289642,15489334,12477932,12168954,10591208,10470851,10409428,8889548,17891150 4144862 23112 BQ009349,BU584176,BX952326,DB147781,NM_001162501,BC046218,BE501815,BG942870,BX537577,BX647630,CA312515,NM_015088,AL022238,AL031589,AL033547,CH471095,Z93783,AB029016,AK294519,AK296590,AK304087,AL831862,BC028626,NM_001024843 NP_001155973,Q9UPQ9,NP_001020014,NP_055903,CAQ08927,CAQ08932,CAQ08008,CAQ08009,CAQ08010,EAW60367,EAW60368,EAW60369,EAW60370,EAW60371,EAW60372,EAW60373,CAQ07207,CAQ07209,BAA83045,BAG57731,BAG59207,BAG64993,AAH28626 Hs.372082 KIAA1093 OTTHUMP00000199175|OTTHUMP00000199177|trinucleotide repeat-containing gene 6B protein protein-coding 1349772 TNRC6C trinucleotide repeat containing 6C 1580863,4144862 16880270,16625196,16344560,15489334,14702039,12477932,12168954,10997877,19304925,19383768,20098421,21063388 4144862 57690 NM_018996,NM_001142640,AC021593,CH471099,AB046802,AI337097,AK000022,AK054995,AK056421,AK092762,AK098609,AL834429,BC039479,BC045631,DA339992,DV080590,AC015804 NP_061869,NP_001136112,EAW89480,EAW89481,EAW89482,EAW89483,EAW89484,EAW89485,BAB13408,BAA90890,BAB71179,CAD39090,AAH45631,Q9HCJ0,Q9NXW7,AAI56367,AAI57116 Hs.569831 FLJ20015|KIAA1582 trinucleotide repeat-containing gene 6C protein protein-coding 1349518 TNRC8 trinucleotide repeat containing 8 14702039,12477932,9225980 27325 AK025872,AK056476,BC029936,U80740 Hs.592375 CAGH39 miscrna 68636 TNS1 tensin 1 The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. A second transcript from this gene has been described, but its full length nature has not been determined. [provided by RefSeq] 1580863 17190795,19240061,19194507,20936779,18537817,17435217,17081983,16953426,14991332,14702039,12477932,11493697,11023826,10860821,10737800,8563175,8810278,19664390,19826001,20010834,9553131,20881960 7145 BC033065,BC051304,BC063142,BC071905,BC107758,BC116187,BC116188,BC126910,BC140942,BE142921,CR622491,BC014042,AC009469,CH471063,AB209238,AF116610,AF172820,AF173897,AF176917,AK001785,AK057328,AK300345,AK309785,AK310169,AL117537,NM_022648,AL706926 AAH14042,AAH51304,AAH71905,AAI16188,AAI16189,AAI26911,AAI40943,Q0VG54,Q0VG55,Q59G71,Q6IPI5,Q6PJM3,Q86VB0,Q9HBL0,Q9NV48,Q9P1L6,Q9UFN8,NP_072174,AAX88952,EAW70582,EAW70583,EAW70584,EAW70585,EAW70586,EAW70587,BAD92475,AAF71035,AAQ13614,AAQ13644,AAQ13661,BAA91910,BAH13264,CAB55983 Hs.471381 DKFZp586K0617|MGC88584|MST091|MST122|MST127|MSTP091|MSTP122|MSTP127|MXRA6|TNS Matrix-remodelling-associated protein 6|OTTHUMP00000207627|OTTHUMP00000207628|matrix-remodelling associated 6|tensin|tensin-1 protein-coding 1323398 TNS3 tensin 3 17190795,18029348,19194507,18424204,17643115,16461921,15140944,14702039,12477932,11559528,9847074,18561090,19732724,20379614 64759 NM_022748,AC073341,AC092000,CH236958,CH471128,AB062750,AB208995,AF378756,AF417489,AK001539,AK002151,AK023794,AK092864,AK310472,AL833845,BC071791,BC137134,BX648770,CR612439,CR626304,CR749644,BC137133,HI574168 NP_073585,AAQ96841,EAW61011,EAW61012,EAW61013,EAW61014,EAW61015,BAB60681,BAD92232,AAL11993,AAN32667,BAB14682,BAC03993,CAD38705,AAH71791,AAI37134,AAI37135,CAH18438,Q59GW4,Q68CZ2,Q8NDL6,Q9H8D5,CBX47573 Hs.520814 DKFZp686K12123|DKFZp686M1045|FLJ13732|FLJ35545|H_NH049I23.2|MGC88434|TEM6|TENS1 H_NH0549I23.2|OTTHUMP00000082709|tensin-3|tensin-like SH2 domain containing 1|tensin-like SH2 domain-containing 1|tensin-like SH2 domain-containing protein 1|tensin-like sh2 domain containing 1|thyroid specific PTB domain protein|tumor endothelial marker 6 protein-coding 1605916 TNS4 tensin 4 12477932,17190795,19487278,19194507,18612693,17765673,17643115,15806167,15498874,15489334,15001839,14702039,12711115,12154022,10737800,8889548,15778465,19913121,20628086,19725034 84951 NM_032865,AC018629,CH471152,AF370421,AF417488,AK027856,AW378527,AW937802,BC013373,BC018706,BM710196 NP_116254,EAW60666,EAW60667,AAQ15257,AAN32666,BAB55413,AAH13373,AAH18706,Q6PJP3,Q8IZW8 Hs.438292 CTEN|FLJ14950|PP14434 C terminal tensin like|C-terminal tensin-like protein|OTTHUMP00000164465|tensin-4 protein-coding 1343878 TNXA tenascin XA pseudogene 1298605 15339882,12121677,10343159,8530023,8132574,2475872,1988494,1373808 1298605 7146 NR_001284,NG_004658,AL645922,AL929593,BX679671,CR753845,CR936924,L26263,S38953,BM906343 AAB22399,Q16473 Hs.708061 D6S103E|HXBL|TNX|XA pseudo 1345578 TNXB tenascin XB This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599494 15102077,16278880,7686164,19266077,19204726,19143821,19143814,19116923,18588874,18335242,18155129,18091320,18058064,17453911,17263730,17202312,17192952,17033827,16567571,16335952,15733269,15455729,15342556,15339882,14729256,14656967,12746407,12477932,12376099,12121677,11642233,11122379,10737800,10343159,10207042,10072631,9288108,9278449,8923003,8530023,2475872,1373808,18391951,18679583,19198610,19738457,19851445,19860791,20041166,19913121,20587610,20628086 1599494 7148 NM_019105,NM_032470,NG_000013,NG_005163,NG_004658,NG_008337,AF019413,AF077974,AL049547,AL645922,AL662828,AL662849,AL662884,AL772248,AL929593,BX679671,CH471081,CR547132,CR753803,CR925796,CR936882,CR936919,CR936924,U52697,U52698,U89337,X71937,Y13783,AB209012,AK310080,AL044866,BC033740,BC071883,BC125114,BC125115,BC130037,BI010479,BP233293,BP420628,BQ446909,EU219621,M25813,U24488,U52696,U52699,U52700,U52701,X71923,Y13782,Y17865,Y17866,Y17867,Y17868,CR759792,CR753845 NP_061978,NP_115859,AAB67981,CAB89296,CAB89297,CAB89298,CAB89299,CAB89300,CAI17414,CAI17471,CAI18332,CAM25640,CAI18078,EAX03572,EAX03573,EAX03574,EAX03575,EAX03576,EAX03577,EAX03578,EAX03579,CAQ10472,CAQ10473,Q5JNX3,Q6IPK3,Q9NPK6,Q9NPK7,Q9NPK8,Q9UE34,Q9Y464,CAQ11027,CAQ08164,CAQ10536,CAQ07654,AAB47488,CAA50740,CAA74110,BAD92249,AAH33740,AAH71883,AAI25115,AAI25116,AAI30038,ACA14133,AAA35884,AAB41287,AAC50889,AAC50880,AAC50882,AAC50884,CAA50739,CAA74109,CAA76899,CAA76900,CAA76901,CAA76902,O95680,O95681,O95682,P22105,CAI41781 Hs.42853,Hs.485104 HXBL|TENX|TN-X|TNX|TNXB1|TNXB2|TNXBS|XB|XBS OTTHUMP00000174881|TN-X|growth-inhibiting protein 45|hexabrachion-like protein|tenascin XB1|tenascin XB2|tenascin-X protein-coding 1352967 TOB1 transducer of ERBB2, 1 This gene encodes a member of the tob/btg1 family of anti-proliferative proteins that have the potential to regulate cell growth. When exogenously expressed, this protein supresses cell growth in tissue culture. The protein undergoes phophorylation by a serine/threonine kinase, 90 kDa ribosomal S6 kinase. Interactions of this protein with the v-erb-b2 erythroblastic leukemia viral oncogene homolog 2 gene product p185 interferes with growth suppression. This protein inhibits T cell proliferation and transcription of cytokines and cyclins. The protein interacts with both mothers against decapentaplegic Drosophila homolog 2 and 4 to enhance their DNA binding activity. This interaction inhibits interleukin 2 transcription in T cells. [provided by RefSeq] 1580863 8632892,19491269,19453261,18377426,18084094,17785442,17164348,16997058,16951159,15676026,15489334,15235587,15051490,14643028,12782279,12477932,12151396,12135500,12050114,11904957,11694881,11429045,11327693,11260258,11163184,10602502,9210596,18056425,16169070,20595394,19569230 10140 NM_005749,AC091062,CH471109,AK313904,AY524047,BC015064,BC031406,BC070493,BC098415,BT019380,BT019381,CR536487,CR541686,D38305 NP_005740,EAW94577,EAW94578,BAG36627,AAS94256,AAH31406,AAH70493,AAH98415,AAV38187,AAV38188,CAG38726,CAG46487,BAA07423,P50616,Q2TU63,ABM81763,ABM84918,ABM84919 Hs.709952,Hs.714409,Hs.727694 APRO6|MGC104792|MGC34446|PIG49|TOB|TROB|TROB1 OTTHUMP00000221803|protein Tob1|transducer of erbB-2 1 protein-coding 1342508 TOB2 transducer of ERBB2, 2 TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM] 1580863 10602502,15489334,15461802,12477932,12135500,11429045,11260258,11258795,10591208,19940862,19760502 10766 NM_016272,AL008582,AB035207,AB051450,AI362988,BC028919,BC038957,BM453650,CR456594,CR541684,CR601882,D64109 NP_057356,CAB62938,BAA87042,BAB33333,AAH28919,AAH38957,CAG30480,CAG46485,BAA10971,Q14106,Q6PIT9,CAK54625,CAK54924 Hs.726020 TOB4|TOBL|TROB2 OTTHUMP00000198834|protein Tob2|protein Tob4|transducer of erbB-2 2 protein-coding 1347878 TOB2P transducer of ERBB2, 2 pseudogene 387049 1352098 TOC tylosis with oesophageal cancer 7534553 7149 1319240 TOE1 target of EGR1, member 1 (nuclear) 17081983,16710414,16344560,15489334,14702039,12562764,12477932,7829101,16169070,15146077 114034 AL359540,CH471059,AK024011,AK093320,AK293704,AK298162,AY169960,BC009364,BI495405,CR457320,CR591540,CR594683,CR598664,CR601438,CR608938,CR612827,CR616202,CR623437,NM_025077,DA887065 NP_079353,CAI21722,EAX06990,BAB14774,BAG52689,BAG57137,BAG60435,AAN75441,AAH09364,CAG33601,Q96GM8 Hs.525091 FLJ13949 target of EGR1 protein 1 protein-coding 1312257 TOLLIP toll interacting protein 1580863 21048031,20936779,11441107,10854325,1085432,18987746,18985539,17362526,17113392,16713569,16412388,16381901,16189514,16107720,15489336,15489334,15231747,15047686,14702039,14563850,12477932,11751856,11230166,11076863,9426216,16169070,16344560,19060904,19423540,19444506,19447967,19716405,19851296,20198315,20237496,20406964,20438785,8837778 54472 AC136297,CH471158,AB209541,AJ242972,AK022871,AK090850,AK096693,AK127123,AK315592,AL136835,AY730683,BC004420,BC012057,BC018272,BX648136,CR533477,NM_019009,AA861717,DB039994 NP_061882,EAX02433,EAX02434,EAX02435,BAD92778,CAB58118,BAB14283,BAG52240,BAC04844,BAG54438,BAG37964,CAB66769,AAX22229,AAH04420,AAH12057,AAH18272,CAG38508,Q59FB9,Q6FIE9,Q8N8J5,Q9H0E2,CAL38251,ABM82728,ABM85912 Hs.368527 FLJ33531|IL-1RAcPIP adapter protein|toll-interacting protein protein-coding 1317553 TOM1 target of myb1 (chicken) This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 14613930,10329004,18029348,17671966,17081983,16903783,15657082,15461802,15047686,14702039,14563850,12975309,12477932,10985773,10591208,17113392,20083669 10043 NR_024194,NM_001135732,NM_005488,NM_001135730,NR_024195,AL008635,CH471095,CS185568,Z82244,AF040251,AJ006973,AK026576,AK090723,AK091958,AK097066,AK097926,AK293694,AK295918,AK296670,AK297827,AK314522,AY358980,BC040006,NM_001135729,BC046151,CR456595,CR593147,CR595971,CR596343,CR603578,CR605275,CR608920,CR611082,CR617054,CR617182,CR621107,CR626351,DC297234,R39075 NP_001129201,NP_001129204,NP_005479,NP_001129202,CAI21633,EAW60053,EAW60054,EAW60055,EAW60056,EAW60057,EAW60058,CAJ42749,CAI17951,AAB97007,CAA07362,BAG53417,BAG53553,BAG57130,BAG58706,BAG59267,BAG60163,AAQ89339,AAH46151,CAG30481,O43601,O60784,Q6UW50,CAK54626,CAK54925,CAQ11034,CAQ11035,CAQ11036 Hs.474705 FLJ33404 OTTHUMP00000198807|target of Myb protein 1|target of myb 1 protein-coding 1351961 TOM1L1 target of myb1 (chicken)-like 1 1580863 11711534,9373149,8125298,20936779,20944134,18654987,19798056,20182632,15611048,10329004,19220627,18367816,17977829,16169070,15579470,15146197,15047686,14702039,12477932,12345679 10040 NM_005486,AC007485,AC090824,CH471109,AB065085,AJ010071,AK001893,AK223125,AK225351,AK300823,AK303912,AK303913,AK309164,AK315039,AK315907,AW044673,AW139144,BC029396,CN284148,CR593166,CR610033 NP_005477,EAW94551,EAW94552,EAW94553,BAB93522,CAA08993,BAD96845,BAG62477,BAG64841,BAG64842,BAG37522,BAH14278,AAH29396,O75674,Q8N749,Q8NI65 Hs.153504 OK/KNS-CL.3|SRCASM Src activating and signaling molecule|TOM1-like protein 1|src-activating and signaling molecule protein|target of Myb-like protein 1|target of myb 1-like 1|target of myb1-like 1|target of myb1-like 1 (chicken) protein-coding 1315512 TOM1L2 target of myb1-like 2 (chicken) 1580863 20936779,16479011,16412388,16344560,15951569,15489334,15231748,14702039,12975309,12477932,11997338,10036180,9110174,8889548,8619474,20167577 146691 NM_001033551,NM_001082968,AC087163,AC122129,CH471196,AF038192,AF467441,AK055959,AK057308,AK124331,AK294846,AK295111,AK299872,AK301944,AK303305,AL133641,AY358769,BC051650,BM976586,DA235267,DA335727,AK025154 NP_001028723,NP_001076437,EAW55684,EAW55685,EAW55686,EAW55687,AAL78338,BAB71421,BAC85834,BAH11903,BAH11978,BAH13157,BAH13590,BAH13936,AAQ89129,AAH51650,Q6UWJ0,Q6ZVM7 Hs.462379 FLJ21501|FLJ32746 TOM1-like protein 2|target of Myb-like protein 2 protein-coding 735635 TOMM20 translocase of outer mitochondrial membrane 20 homolog (yeast) 1580863 10548729,9756929,9748310,9211931,9119086,7589431,7584028,10980201,7584026,14557246,7498524,17081983,16710414,16169070,15733919,15644312,15489334,14699115,12477932,11913975,11027586,10982837,18029348,20877624 9804 AAB35420 D13641,NM_014765,AF126962,AL732292,CH471098,CQ871290,AK289810,BC000882,BC009886,BC066335,BC071994,BC100286,BC107851,CR456718,CR598588,CR600837,CR601274,CR614388,CR620459 BAA02804,AAB35420,Q15388,ABM82028,ABW03358,NP_055580,AAF13354,CAI21937,EAW70003,EAW70004,CAH56826,BAF82499,AAH00882,AAH66335,AAH71994,AAI00287,AAI07852,CAG32999 Hs.533192 KIAA0016|MAS20|MGC117367|MOM19|TOM20 mitochondrial 20 kDa outer membrane protein|mitochondrial import receptor subunit TOM20 homolog|outer mitochondrial membrane receptor Tom20|translocase of outer mitochondrial membrane 20 homolog type II protein-coding 1602627 TOMM20L translocase of outer mitochondrial membrane 20 homolog (yeast)-like 15733919,12975309,12477932 387990 NM_207377,AL139021,CH471061,AY358266,BC137557,BC137563,BC144709 NP_997260,EAW80733,EAW80734,AAQ88633,AAI37558,AAI37564,Q6UXN7 Hs.592307 UNQ9438 TOMM20-like protein 1|translocase of outer mitochondrial membrane 20 homolog type I protein-coding 1342792 TOMM22 translocase of outer mitochondrial membrane 22 homolog (yeast) The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq] 1580863 15644312,10982837,12198123,17096026,17081983,15489334,15461802,14702039,14699115,14557246,12477932,10980201,10900208,9373149,8125298,17635912,18029348,16712791,20877624 56993 NM_020243,AL021707,CH471095,AA522979,AB040119,AB041906,AF163256,AK024731,AK223021,AK312076,BC009363,BQ961547,CB142641,CR456475,CR594101,CR599084,CR611731,CR616741,CR617759 EAW60253,CAK54456,NP_064628,CAI21602,EAW60257,BAB03306,BAB16408,AAQ13585,BAB14979,BAD96741,BAG35012,AAH09363,CAG30361,Q53GB0,Q9NS69,CAK54755,ABM83971,ABM87288 Hs.595072 1C9-2|MST065|MSTP065|TOM22 hTom22|mitochondrial import receptor Tom22|mitochondrial import receptor subunit TOM22 homolog|translocase of outer membrane 22 kDa subunit homolog protein-coding 4110022 TOMM22P1 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 1 9847074 100499416 AC007876,NG_023455 pseudo 4110021 TOMM22P2 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 2 9847074 100499417 AC006040,NG_023456 pseudo 4109750 TOMM22P3 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 3 11181995 122038 AL355504,CH471075,NG_023453 EAX08524 pseudo 4109467 TOMM22P5 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 5 390007 NG_023452,AL356865 pseudo 4109367 TOMM22P6 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 6 100287573 NG_023451,AC128711 pseudo 1319142 TOMM34 translocase of outer mitochondrial membrane 34 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq] 1580863 18364745,9660753,9324309,17081983,16820880,15489334,12477932,11913976,11913975,11780052,11549316,10101285,9373149,8125298,20877624 10953 AL109839,CH471077,AB085681,AK000594,AK129538,AK222952,AK302128,AK307655,BC001763,BC006573,BC007423,BC014907,BI560064,BT020008,BT020009,CR456765,CR590854,CR591871,CR601541,CR610532,CR611422,CR613555,CR615090,CR615170,CR617290,NM_006809,CR620173,CR624083,U58970 NP_006800,CAB89422,EAW75885,EAW75886,BAF32949,BAC85180,BAD96672,BAG63505,AAH01763,AAH07423,AAH14907,AAV38811,AAV38812,CAG33046,AAC64484,Q15785,Q6ZPD0,ABM82077,ABW03362 Hs.517066 HTOM34P|TOM34|URCC3 hTom34|mitochondrial import receptor subunit TOM34|outer mitochondrial membrane translocase (34kD)|translocase of outer membrane 34 kDa subunit protein-coding 1343121 TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM] 1303948,1580863 20628086,17635912,18439552,19060910,19125160,19197348,19668339,19734902,19734903,19749422,19913121,20029386,20100581,20370913,15644312,10980201,12198123,19060911,18823527,18430993,18095154,17672918,16495475,15489334,15342556,12477932,11745481,10520737,20885792,20932310,20460622,20595579,21123754,20877624 1303948 10452 NM_001128916,NM_001128917,AC011481,AF043253,AF050154,CH471126,AF043250,AF316398,AF316399,AF316401,AF316402,BC001779,BC006413,BC012134,NM_006114,CR624986,CR623716,BC017224,BC047528,BP265648,CR592041,CR593526,CR593671,CR593837,CR593878,CR594218,CR596919,CR597932,CR597944,CR598474,CR599210,CR599342,CR599747,CR600311,CR601010,CR602236,CR604933,CR609207,CR614435,CR616015,CR616352,CR616832,CR618807,CR621607,CR622462 NP_006105,NP_001122388,NP_001122389,AAC82343,AAD02504,EAW57300,EAW57301,EAW57302,EAW57303,EAW57304,EAW57305,AAC82342,AAL46624,AAL46625,AAL46626,AAL46627,AAH01779,AAH06413,O96008,ABM83864,ABM87186,AAH12134,AAH17224,AAH47528 Hs.655909 C19orf1|D19S1177E|PER-EC1|PEREC1|TOM40 mitochondrial import receptor subunit TOM40 homolog|mitochondrial outer membrane protein|p38.5|protein Haymaker|translocase of outer membrane 40 kDa subunit homolog protein-coding 1604579 TOMM40L translocase of outer mitochondrial membrane 40 homolog (yeast)-like 11256614,16710414,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,20877624 84134 NM_032174,AL590714,CH471121,AK022832,AK027704,AK297831,AK297848,BC014946,BX537951,DA160426 Q9H9G4,CAL37516,CAL37967,NP_115550,CAH72152,EAW52611,EAW52612,EAW52613,EAW52614,EAW52615,EAW52616,EAW52617,BAB14265,BAB55309,BAH12674,BAH12676,AAH14946,CAD97918,Q969M1 Hs.321653 FLJ12770|RP11-297K8.10|TOMM40B OTTHUMP00000032243|mitochondrial import receptor subunit TOM40B|protein TOMM40-like|translocase of outer mitochondrial membrane 40 homolog-like protein-coding 1347873 TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast) 18331822,15489334,15164053,12477932,8889548 401505 NM_001001790,NM_001134484,NM_001134485,AL513165,AB435233,BC029423,BC034247,BM693831,DB451927 NP_001001790,NP_001127956,NP_001127957,CAI16153,CAI16154,BAG30953,AAH34247,Q5JRT7,Q8N4H5 Hs.130774 C9orf105|RP11-263I4.1|Tom5|bA613M10.3 mitochondrial import receptor subunit TOM5 homolog|mitochondrial outer membrane protein TOM5 protein-coding 2300132 TOMM6 translocase of outer mitochondrial membrane 6 homolog (yeast) 18331822,16341674,16097034,15489334,14702039,14574404,12477932,7923143 100188893 NM_001134493,AL365205,AB435319,AF216754,AJ420506,BC015975,BC018624,BC022274,BC067252,BC107435,BM783950,CR595842,CR606113,L34839 NP_001127965,BAG30996,AAF25683,AAH15975,AAH18624,AAH22274,Q96B49,CAM16154 Hs.525899 DKFZp761H221|FLJ32622|OBTP mitochondrial import receptor subunit TOM6 homolog|over-expressed breast tumor protein|overexpressed breast tumor protein|translocase of outer membrane 6 kDa subunit homolog protein-coding 1317904 TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast) TOM7 is a small regulatory component of the translocase of the outer mitochondrial membrane (TOM), a general import pore complex that translocates preproteins into mitochondria.[supplied by OMIM] 1580863 12198123,18331822,15644312,15489334,12853948,12477932,10931946,10647823,20877624,20379614 54543 NM_019059,AC005682,CH236948,CH471073,AF086336,AF150733,AJ011007,AK026520,BC001732,BC071973,CR456960,CR599481 NP_061932,AAS01992,EAW93760,EAW93761,EAW93762,EAW93763,AAF67473,CAB38060,AAH01732,AAH71973,CAG33241,Q75MR5,Q9P0U1 Hs.112318 TOM7 6.2 kd protein|homolog of Tom7|mitochondrial import receptor subunit TOM7 homolog|translocase of outer membrane 7 kDa subunit homolog protein-coding 1343038 TOMM70A translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) The translocase of outer mitochondrial membrane (TOM) complex is a multisubunit complex involved in the recognition, unfolding, and translocation of preproteins into the mitochondria. See TIM17A (MIM 605057).[supplied by OMIM] 1580863 20504278,12526792,16968702,16822835,16303743,15644312,15489334,12477932,12200962,10582581,9872452,20628368,18029348,18669640,18852034,20877624 9868 NM_014820,AC093003,CH471052,AB018262,AK074951,AK075080,AK075102,BC003633,BC052994,BC065555,CR623762,AK302796 NP_055635,EAW79822,EAW79823,BAA34439,BAG52062,BAG52067,AAH03633,AAH52994,O94826,ABM87423,BAG63999 Hs.227253 FLJ90470 mitochondrial import receptor subunit TOM70|mitochondrial precursor proteins import receptor|translocase of outer membrane 70 kDa subunit|translocase of outer mitochondrial membrane 70 homolog a (yeast) protein-coding 733198 TOP1 topoisomerase (DNA) I This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq] 1580863 20875401,17355975,9049244,10352183,17481653,17172417,16127745,19604089,19435923,19380834,19336913,19083133,18855534,18826252,18772225,18765473,18713021,18693244,18676842,18588899,18556653,18553933,18515798,18495665,18408216,18215123,18089815,18054778,18003733,17976381,17827209,17765665,17706468,17656417,17490723,17439970,17434318,17101150,16930551,16819839,16799632,16537084,16428803,16415033,16314322,15944452,15923621,15850773,15848144,15830206,15680922,15640154,15635413,15351405,15247263,15196694,15178684,15147201,15100157,15014084,15010314,14741206,14729676,14706652,14688260,14654701,14594810,13679149,12904303,12829794,12723479,12711735,12708316,12673200,12634843,12618186,12549820,12519782,12477932,12439742,12426403,12270705,12270136,12237772,12209444,12209008,12149243,12119295,12097280,12051740,12004060,11844605,11832494,11818025,11809893,11790298,11780052,11749700,11709553,11254741,10967121,10841763,10792988,10759568,10556215,10468612,9933635,9756848,9611241,9512561,9488652,9488644,9396813,9373149,9209315,9209286,8567649,8125298,7882333,7539924,2998765,2848244,2833744,2558068,2544263,2461859,2176592,2174357,1851751,1849260,1339303,1332703,11001406,18162579,11805286,16407974,14961077,11016921,15361825,17148452,17158748,17234752,18029348,19173801,19232127,19452556,19494003,19639183,19666469,19710015,19740104,19883377,19916945,19952118,20215517,8639538,20944095 7150 NM_003286,NG_012262,AL022394,AL035652,CH471077,M60688,M60706,AK225095,AK292943,AK310508,BC000943,BC004475,BC039009,BC067349,BC136297,CR590405,CR599447,CR604483,J03250,M27913,U07804,U07806,X16479 NP_003277,CAI42886,CAI19767,EAW75994,EAW75995,EAW75996,EAW75997,AAA61206,BAF85632,AAH00943,AAH04475,AAH67349,AAI36298,AAA61207,AAA61208,AAB60379,CAA34500,P11387,Q6NWZ5,Q6PK95,Q9BVT2,AAB60380 Hs.472737,Hs.712686 TOPI DNA topoisomerase 1|DNA topoisomerase I|dna topoisomerase i|type I DNA topoisomerase protein-coding 1351494 TOP1MT topoisomerase (DNA) I, mitochondrial This gene encodes a mitochondrial DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of DNA which allows the strands to pass through one another and relieves the stress introduced by a circular mitochondrial genome during replication and transcription. [provided by RefSeq] 1323841,737633,1580863 18063578,15096574,12477932,11526219,20877624,18029348,20453000,20843780 1323841,737633 116447 AC087793,AF349018,AF349019,AF349020,AF349021,AF349022,AF349023,AF349024,AF349025,AF349026,AF349027,AF349028,AF349029,AF349030,AF349031,CH471162,AF349017,AK302372,AK303237,AK308475,AK309005,AK311647,AK315913,AK316380,BC027453,BC044646,BC052285,BC071914,CR590524,CR594056,CR602435,CR616521,CR622914,CR623300,NM_052963,HQ204988,HQ204989,HQ204990,HQ204992,HQ204997,HQ204998,HQ204999,HQ205000,HQ205001,HQ205002,HQ205005,HQ205006,HQ205007,HQ205008,HQ205009,HQ205011,HQ205012,HQ205014,HQ205015,HQ205016,HQ205017,HQ205018,HQ205020,HQ205023 NP_443195,AAL10791,EAW82259,EAW82260,EAW82261,EAW82262,EAW82263,EAW82264,EAW82265,EAW82266,AAL05624,BAG63694,BAG64323,BAH14284,BAH14751,AAH27453,AAH44646,AAH52285,AAH71914,Q8TBP3,Q969P6,ADP90416,ADP90417,ADP90418,ADP90420,ADP90425,ADP90426,ADP90427,ADP90428,ADP90429,ADP90430,ADP90433,ADP90434,ADP90435,ADP90436,ADP90437,ADP90439,ADP90440,ADP90442,ADP90443,ADP90444,ADP90445,ADP90446,ADP90448,ADP90451 Hs.528574 DNA topoisomerase I, mitochondrial|mitochondrial DNA topoisomerase I protein-coding 1345124 TOP1P1 topoisomerase (DNA) I pseudogene 1 2170234 7151 NR_002719,AL031274,M55632 Hs.661092 pseudo 1353074 TOP1P2 topoisomerase (DNA) I pseudogene 2 2170234 7152 NR_001283,AP000359,M55630 Hs.381281 pseudo 1352729 TOP2A topoisomerase (DNA) II alpha 170kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromsome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq] 2315132,2315120,2315124,2315125,2315126,2315131,2315122,2315127,2315128,2315129,2315130,2315121,2315133,1580863 16611985,12079377,9049244,16914642,11062478,11136718,10666337,15965487,10473615,15491148,15504738,10959840,15456904,16712776,10788521,19620488,19582575,19539329,19485418,19428368,19401546,19329795,19270648,19223331,19222228,19185918,19111388,19098900,19080257,19074885,19061514,19053267,19019771,19003983,18927283,18824850,18824478,18653531,18632987,18596031,18544048,18520795,18465341,18402387,18347177,18332872,18204862,18171681,18162055,16682295,16565220,16533774,16533424,16507781,16271071,16236267,16234514,16213649,16188892,16139951,16114891,16091284,16053917,15899781,15809708,15635413,15602006,15375522,15302935,15201855,15182198,15126503,15044480,15037624,14996935,14991576,14989736,14978217,14759373,14702039,14632727,14596941,14566826,12859955,12832072,12821127,12711669,12691917,12646941,12646164,12569090,12480934,12477932,12429910,12429800,12429798,12356743,12237772,12078518,12014628,12001123,11958416,11940573,11940566,11927602,11862483,11790298,11574892,11444988,11111056,11101529,10942766,10862613,10646863,10465010,10393912,10095062,9804834,9795238,8939955,8710863,8393377,8387155,8166723,7980433,7961967,18062778,18045852,17998154,17983804,17956945,17922046,17717428,17636313,17607373,17526531,17512033,17453369,17410335,17388661,17361331,17289897,17212588,17182034,17081983,17072627,16990717,16964243,16864174,16344560,19321449,20441774,20557373,20688355,7635160,7585537,7499337,6267071,2845399,2836804,2556712,1652758,1373318,1309226,18162579,12393188,11799067,20655466,15034300,18029348,18394993,18702822,18815879,19661031,19661040,19670699,19695223,19697956,19713842,19729798,19885609,19886180,19913893,19945923,19956605,19956635,20029472,20085707,20089371,20130985,20170164,20194637,20497003,19394292,19454010,19458360,20021828,18790802,20800603,20697251 2315132,2315120,2315124,2315125,2315126,2315131,2315122,2315127,2315128,2315129,2315130,2315121,2315133 7153 NM_001067,AC080112,AF064590,AF069522,AF071738,AF071739,AF071740,AF071741,AF071742,AF071743,AF071744,AF071745,AF071746,AF071747,AJ011741,CH471152,AF285157,AF285158,AF285159,AK024080,BC013429,BC140791,CR625760,J04088,L47276,L47277,DB069825,NG_027678 NP_001058,AAC16736,AAC23518,AAC77388,CAA09762,EAW60661,EAW60662,EAW60663,AAG13403,AAG13404,AAG13405,AAI40792,AAA61209,P11388 Hs.156346 TOP2|TP2A DNA gyrase|DNA topoisomerase (ATP-hydrolyzing)|DNA topoisomerase 2-alpha|DNA topoisomerase II, 170 kD|DNA topoisomerase II, alpha isozyme|OTTHUMP00000207108 protein-coding 1350637 TOP2B topoisomerase (DNA) II beta 180kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. [provided by RefSeq] 1580863 9049244,11062478,11136718,10666337,10473615,16611985,19222228,19181665,18212063,17526531,17361331,17209120,17182034,17081983,16969495,16932348,16794079,16712776,16565220,16502015,16091284,15680922,15635413,15302935,15044480,14996935,14723357,14596941,12837248,12821127,12629207,12477932,12393188,12197834,12105221,11927602,11790298,11710515,11395412,10879730,10862613,10095062,9795238,9743583,9461304,9426241,9155018,8710863,8626450,8396237,8383537,2556712,2163884,1333583,1309226,19902255,20201926,18029348,20800603,19913121,20628086 7155 AC093416,AF087143,AF087144,AF087145,AF087146,AF087147,AF087148,AF087149,AF087150,AF087151,AF087152,AF087153,AF087154,AF087155,AF087156,AF087157,AF087158,AF087159,AF087160,AJ011721,CH471055,U65315,U96765,X71911,AB208879,AK296510,AK297171,AK307450,AK316492,AY309240,BC021863,BC054482,CR600074,CR602047,CR606570,CR621848,M27504,U54831,X53662,X68060,Z15111,Z15115,NM_001068 Q02880,Q59H80,Q6LBI8,Q6LC06,Q6W6M6,Q71UH4,Q8WTY5,AAI56331,AAI57119,NP_001059,AAC77432,CAA09753,EAW64357,EAW64358,EAW64359,AAB95437,AAB54121,CAA50726,BAD92116,BAG59142,BAG59664,BAH14863,AAR16193,AAH21863,AAA61210,AAB01982,CAA37706,CAA48197,CAA78815,CAA78821 Hs.475733 TOPIIB|top2beta DNA topoisomerase 2-beta|DNA topoisomerase II beta|DNA topoisomerase II, 180 kD|DNA topoisomerase II, beta isozyme|OTTHUMP00000208318|U937 associated antigen|antigen MLAA-44|topo II beta|topoisomerase II beta|topoisomerase IIb protein-coding 1319604 TOP3A topoisomerase (DNA) III alpha This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq] 1580863 10728666,8622991,19432957,18418389,18390547,17728255,16595695,16546998,15489334,12477932,12433984,12209014,11997338,11406610,10945498,10739669,10734115,10710432,10352172,9748294,9114025,11470874,10825162,12973351,15775963,20445207,19742304,20843780 7156 NM_004618,AC127537,AF026813,CH471196,AF086042,AK126869,AK290513,AK292926,AK296437,AK299764,AK311668,BC051748,BM462184,CR593799,U43431,HQ205026,HQ205027,HQ205028,HQ205029,HQ205030,HQ205031,HQ205032,HQ205033,HQ205034,HQ205035,HQ205036,HQ205037,HQ205038,HQ205039,HQ205040,HQ205041,HQ205042,HQ205043,HQ205044,HQ205045,HQ205046,HQ205047,HQ205048,HQ205049,HQ205050,HQ205051,HQ205052,HQ205053,HQ205054,HQ205055,HQ205056,HQ205057,HQ205058,HQ205059,HQ205060,HQ205061,HQ205062,HQ205063,HQ205064,HQ205065 NP_004609,EAW55646,EAW55647,EAW55648,EAW55649,BAG54385,BAF83202,BAF85615,BAG59092,BAG61652,AAH51748,AAB03694,AAB03695,Q13472,ADP90454,ADP90455,ADP90456,ADP90457,ADP90458,ADP90459,ADP90460,ADP90461,ADP90462,ADP90463,ADP90464,ADP90465,ADP90466,ADP90467,ADP90468,ADP90469,ADP90470,ADP90471,ADP90472,ADP90473,ADP90474,ADP90475,ADP90476,ADP90477,ADP90478,ADP90479,ADP90480,ADP90481,ADP90482,ADP90483,ADP90484,ADP90485,ADP90486,ADP90487,ADP90488,ADP90489,ADP90490,ADP90491,ADP90492,ADP90493 Hs.592115 TOP3 DNA topoisomerase 3-alpha|DNA topoisomerase III alpha|topo III-alpha protein-coding 1319825 TOP3B topoisomerase (DNA) III beta This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Alternative splicing of the C-terminus of this gene results in three transcript variants which have distinct tissue specificity; however, not all variants have been fully described. [provided by RefSeq] 1580863 20950730,15231747,9786843,16189514,15489334,15461802,15358519,14702039,12477932,11549288,10710432,9927731,9786842,9110174,9074928,8619474 8940 AK096695,AK290997,AK304709,AL833505,BC002432,CR456596,CR597544,CR625879,NM_003935,CH471095,D87012,AF017146,AF053082,AF070585,AF125216 AAD29670,BAG53351,BAF83686,BAG65474,AAH02432,CAG30482,O95985,CAK54627,CAK54926,NP_003926,EAW59487,EAW59488,EAW59489,EAW59490,EAW59491,BAA20009,AAD01614,AAD15791 Hs.436401 FLJ39376 DNA topoisomerase 3-beta-1|DNA topoisomerase III beta-1|OTTHUMP00000198584|topoisomerase III beta protein-coding 1345548 TOP3B2 topoisomerase (DNA) III beta, 2 This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq] 10591208,9074928 23751 NG_000002,D86996 pseudo 1321299 TOPBP1 topoisomerase (DNA) II binding protein 1 This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq] 1580863 9461304,12773567,19289498,19097996,19084217,18923429,18519640,18006695,17913746,20566845,17448016,17293600,17287259,16984230,16964243,16930991,16880517,16831524,16530042,16314514,15961388,15635413,15195143,15188402,15138768,15075294,14576432,12941802,12810625,12697828,12477932,17887956,17765870,12421765,12408820,11934899,11756551,11714696,11395493,10498869,9039502,14576433,20858457,17006541,17575048,17643375,19584272,19690177,20029092,20056645,20159562,20545769 11073 NM_007027,AC016255,AC083905,CH471052,AB019397,AK026229,AK302584,BC017552,BC032633,BC126209,BC151237,D87448,Y18557 NP_008958,EAW79173,EAW79174,EAW79175,BAA34202,BAH13754,AAH32633,AAI26210,AAI51238,BAA13389,A0AV47,Q05BV8,Q92547 Hs.593379 TOP2BP1 DNA topoisomerase 2-binding protein 1|DNA topoisomerase II-beta-binding protein 1|DNA topoisomerase II-binding protein 1 protein-coding 1313199 TOPORS topoisomerase I binding, arginine/serine-rich 1580863 11278651,10352183,10415337,14516784,15735665,19373681,18509552,18077445,17976381,17924349,17803295,17081983,16679534,16455055,16189705,16122737,15699047,15489334,15364129,15302935,15247280,15231748,15164053,15107820,12878157,12477932,12083797,11842245,19053840,19183411,16344560,17290218,19473992,20379614,19821153,19690564,8889548 10210 NM_005802,AF241192,AL353671,CH471071,AB045732,AB045733,AF098300,AI934577,AU280552,BC060884,BQ007035,U82939,AV712580,DA238762,NG_017050,BJ993131,BU674865,NM_001195622 NP_005793,AAK12843,CAH71253,CAH71254,EAW58546,BAB03714,BAB03715,AAD23379,AAH60884,AAC98530,Q9NS56,NP_001182551 Hs.589962 LUN|P53BP3|RP31|TP53BPL E3 ubiquitin-protein ligase Topors|SUMO1-protein E3 ligase Topors|topoisomerase I binding protein|topoisomerase I-binding RING finger protein|tumor suppressor p53-binding protein 3 protein-coding 1345813 TOR1A torsin family 1, member A (torsin A) The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq] 9288096,10814722,19528516,19380705,19344776,19284587,19260107,19214438,19202559,19066193,19038309,18940237,18827015,18823049,18571468,18552369,18550799,18519876,18477841,18477710,18437909,18322712,18299128,18258738,18224570,18212280,17601741,17550429,17539945,17503336,17428918,17353931,17290457,17200151,17130424,17066475,17037984,17027035,16934985,16911351,16631205,16537570,16366514,16303743,16275837,16198613,15939081,15781971,15767459,15679701,15555920,15505207,15489334,15465399,15455404,15359520,15326234,15293281,15177405,15164053,15147511,14872019,14743361,14711988,14702039,14690443,14615676,14581671,12975293,12965225,12838525,12780349,12760408,12609485,12481989,12477932,12402271,12391355,12098639,12007841,11973627,11940688,15099679,15028751,20584926,20861018,11757956,11584049,11523564,11438481,11405807,11337467,10871631,10644435,10640617,10541594,10435508,9750906,9585364,8324822,20669276,15111678,11921134,19339278,19441135,19535332,19651773,19665049,20113340,20298201,20590813,20865765,20976771,20825472 1861 NM_000113,NG_008049,AL158207,CH471090,AF007871,AK056062,AK075343,AK130769,AK294677,AK314505,AU098588,BC000674,BC014484,BT006931,BU790507,CR602179,CR612940,CR622117,CR623187 NP_000104,CAC88168,EAW87907,EAW87908,AAC51732,BAG51613,BAG57840,BAG37105,AAH00674,AAH14484,AAP35577,O14656,ABM83583,ABM86823 Hs.534312 DQ2|DYT1 dystonia 1 protein|dystonia 1, torsion (autosomal dominant; torsin A)|torsin family 1 member A|torsin-1A protein-coding 1607052 TOR1AIP1 torsin A interacting protein 1 17081983,16710414,15767459,15489334,14702039,12061773,9305626,8324822,12477932 26092 NM_015602,AL353708,CH471067,AK001780,AK021613,AK023204,AK291495,AK310012,AL050126,AL598529,AW298193,BC023247,BQ435161,BX369105,CR591258,CR595831 NP_056417,CAI41051,CAI41052,EAW91067,EAW91068,BAA91906,BAB13855,BAB14461,BAF84184,CAB43282,AAH23247,Q5JTV8 Hs.496459 DKFZp586G011|FLJ13142|LAP1B|MGC3413|RP11-533E19.1 OTTHUMP00000039113|lamina associated polypeptide 1B|lamina-associated polypeptide 1B|torsin-1A-interacting protein 1 protein-coding 1604221 TOR1AIP2 torsin A interacting protein 2 11181995,15342556,16964240,19339278,19615732,15767459,16710414,15489334,14702039,12477932 163590 AJ299406,AK289793,BC032790,BC096704,BC098170,BC098309,BC098348,BP222544,NM_022347,NM_145034,AL359853,CH471067,AF464140,AK057623,BC094724,BC101532,BC112225,NM_001199260,XR_108317 AAH32790,AAH96704,AAH98170,AAH98309,AAH98348,BAF82482,CAC13974,EAW91065,NP_071742,Q9H496,NP_659471,EAW91058,EAW91059,EAW91060,EAW91061,EAW91062,EAW91063,AAM50514,AAI01533,AAI12226,Q8NFQ8,ADR83182,NP_001186189,CAH70382 Hs.723247,Hs.655655 FLJ77012|IFRG15|LULL1|MGC120074|MGC120075|MGC120076|MGC120077|MGC126581|MGC138430|NET9|RP11-12M5.5 interferon alpha responsive protein|interferon alpha responsive protein; torsin-1A-interacting protein 2|interferon responsive gene 15|lumenal domain like LAP1|lumenal domain-like LAP1|torsin-1A-interacting protein 2 protein-coding 1318195 TOR1B torsin family 1, member B (torsin B) 1580863 20669276,17130424,9288096,10644435,16938275,15489334,15164053,15147511,12477932 27348 NM_014506,AL158207,CH471090,AF007872,AF317129,BC006480,BC015578 NP_055321,CAC88165,CAC88166,EAW87906,AAC51733,AAG50271,AAH06480,AAH15578,O14657,Q96LG7,Q9BR69,ABM84130,ABM84131,ABM84622,ABM87531,ABM87532,ABM87866 Hs.252682 DQ1|MGC4386 torsin family 1 member B|torsin-1B protein-coding 1345727 TOR2A torsin family 2, member A 18804130,16697365,16303743,15489334,15164053,14702039,12975309,12910263,12477932,10644435,20684826,16344560,18497465,19761814 27433 NM_130459,NM_001085347,NM_001134430,NM_001134431,AL162426,CH471090,CS051357,AK027677,AK055034,AK075520,AK092388,AY358180,BC022985,BC062340,BC080527,BC100907,BC100908,BC100909,BC100910,CR623700,DA430836 NP_569726,NP_001078816,NP_001127902,NP_001127903,CAI41185,CAI41186,CAI41187,EAW87690,EAW87691,EAW87692,EAW87693,EAW87694,CAI72173,BAB55288,BAC11667,AAQ88547,AAH62340,AAH80527,AAI00908,AAI00909,AAI00910,AAI00911,Q5JU69,Q8N2E6,AAI56123,AAI56919,AAI60144 Hs.444106 FLJ14771|MGC99558|TORP1 prosalusin|torsin-2A|torsin-related protein 1 protein-coding 1320812 TOR3A torsin family 3, member A 1580863 20237496,20379614,16710414,16344560,15489334,14702039,12477932,11863361,10644435,17207965 64222 BC018292,AJ318044,AL139132,CH471067,AJ299403,AJ299441,AK025998,AK130132,AK299966,AK316530,BC001085,BC007571,BC011746,NM_022371,BC088368,CR457354,CR612199,CR614363,DA942161 AAH18292,NP_071766,CAC88129,CAC88130,CAH70927,CAH70928,CAH70929,CAH70930,EAW91037,EAW91038,EAW91039,CAC13973,CAC14461,BAB15312,BAG61792,BAH14901,AAH01085,AAH07571,AAH11746,AAH88368,CAG33635,Q9H497,ADQ32170 Hs.584957 ADIR|ADIR2|FLJ22345|MGC111104 ATP-dependant interferon response protein 1|ATP-dependant interferon responsive|ATP-dependent interferon-responsive protein|torsin-3A protein-coding 1605410 TOX thymocyte selection-associated high mobility group box The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development. 19734545,20379614,19023099,18195075,17975119,17918249,17529974,15489334,15078895,14702039,12697058,12477932,12168954,11850626,9872452 9760 NM_014729,NG_011993,AC090152,AC091195,AC105150,CH471068,AB018351,AK000971,AK302331,BC016665,BX647462,CA439630,CR611103 NP_055544,EAW86818,EAW86819,BAA34528,BAG50841,BAG63663,AAH16665,O94900,ABM82591,ABM85778 Hs.491805,Hs.634856 KIAA0808|TOX1 thymocyte selection-associated high mobility group box protein TOX|thymus high mobility group box protein TOX protein-coding 1350992 TOX2 TOX high mobility group box family member 2 19240061,16344560,15489334,14764631,14702039,12477932,11780052,20379614,20585324 84969 NM_001098797,NM_032883,NM_001098796,NM_001098798,AL034419,AL035089,AL121587,AL353797,CH471077,AK055135,AK289906,AK298976,BC007636,BM545579,CB989964,CR604013,DA174963,DA210275 NP_001092267,NP_116272,NP_001092266,NP_001092268,CAI42198,CAI42200,CAI42201,CAI42202,CAI21559,CAI21560,CAI21561,EAW75944,EAW75945,EAW75946,EAW75947,BAB70860,BAF82595,BAG61070,Q96NM4,ABZ92412 Hs.26608 C20orf100|GCX-1|MGC15880|dJ1108D11.2|dJ495O3.1 OTTHUMP00000031038|TOX high mobility group box family member 2|chromosome 20 open reading frame 100|granulosa cell HMG box 1|granulosa cell HMG box protein 1|granulosa cell HMG-box protein 1 protein-coding 1323035 TOX3 TOX high mobility group box family member 3 The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene. 1580863 20605201,20703937,19232126,19094228,18437204,17997823,17529974,18355772,17529967,14702039,12697058,9225980,20664043,20872241,19330030,19617217,19789366,19843670,19856316,20054709,20145138,20237344,20332101,20379614,20406955,20417875,20502973,20453838,20585626 27324 NM_001080430,NM_001146188,AC007490,CH471092,AK025084,AK027006,AK095095,AK299202,BE501808,U80736,AC093514,NG_012623 NP_001073899,NP_001139660,EAW82787,BAG61242,AAB91435,O15405,AAI67799 Hs.460789 CAGF9|TNRC9 CAG trinucleotide repeat-containing gene F9 protein|TOX high mobility group box family member 3|trinucleotide repeat containing 9|trinucleotide repeat-containing gene 9 protein protein-coding 1350277 TOX4 TOX high mobility group box family member 4 18029348,19293638,16713569,16344560,15489334,15231748,15231747,12477932,9872452,8889548,20516061,20936779 9878 NM_014828,NG_001332,AE000658,AL161747,CH471078,AB018280,AK295913,AK298555,AK299807,AY305872,BC013689,BC020292,BC020727,BC035050,BQ676957,BU677026,CR591487,CR595081,CR603862,CR607593,CR609896,CR611358,CR611395,CR622640,CR624614,DA334895 NP_055643,EAW66380,EAW66381,BAA34457,BAG58701,BAG60750,BAG61682,AAQ95214,AAH13689,O94842,Q5J9I5,ABZ92394,ACE87309,ACE86628 Hs.555910 C14orf92|KIAA0737|LCP1|MIG7 OTTHUMP00000196850|TOX high mobility group box family member 4|chromosome 14 open reading frame 92|epidermal Langerhans cell protein LCP1|migration-inducing protein 7 protein-coding 70502 TP53 tumor protein p53 This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it's believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mutants of p53 that frequently occur in a number of different human cancers fail to bind the consensus DNA binding site, and hence cause the loss of tumor suppressor activity. Alterations of this gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome. Multiple p53 variants due to alternative promoters and multiple alternative splicing have been found. These variants encode distinct isoforms, which can regulate p53 transcriptional activity. [provided by RefSeq] 1580742,1580743,1358139,2290536,2290541,2290573,2290535,2290544,2290545,2290568,2290534,2290537,2290542,2290557,2290572,2290531,2290533,2290540,2289931,2298527,2298525,2298526,2290554,2290561,2290532,2290539,2290551,2290571,2290577,1302543,1302544,1331525,1302545,1580863,1302573,1300048,2316186,2316155,2316156,4143515 8183576,18086682,17599062,7824276,10666337,15577914,17996705,11861836,10837489,7587074,15053879,10065153,14654789,14744935,12667443,15116721,12080348,8675009,10065150,16462759,8986812,7663514,11672523,12915590,16507995,12006491,7720704,11080164,19676140,19667129,19651615,19650989,19643983,19643813,19643719,19639206,19629678,19626602,19626115,19625214,19623649,19609560,19608766,19608020,19602465,19602056,19597886,19594747,19583749,19580479,19199318,19198855,19197340,19195690,19193430,19190338,19188449,19184427,19180570,19178978,19171829,19170058,19166313,19165225,19160491,19160092,19159630,19158844,19158830,19157504,19155088,19153488,19153082,19151774,19151662,19151620,19148546,19571709,19565930,19558663,19558213,19556618,19551637,19548527,19543899,19543839,19542078,19541936,19541923,19540192,19538885,19536170,19536131,19536092,19527492,19523975,19523860,19521985,19521721,19513503,19513497,19509332,19507255,19506726,19505915,19505151,19499352,19491257,19487292,19486858,19482343,19473450,19471604,19470788,19470478,19461506,19458054,19451596,19448667,19448627,19443408,19440053,19437562,19435914,19435816,19435786,19434759,19434633,19434453,19432615,19430562,19429664,19428789,19428372,19426493,19423538,19423162,19419935,19416861,19416725,19414370,19414363,19414295,19411634,19411067,19410540,19405127,19403344,19398950,19398576,19394062,19389934,19386249,19384064,19383811,19383392,19382257,19377469,19376776,19375220,19367581,19367287,19367277,19366907,19366810,19363521,19358278,19357962,19357867,19357310,19351845,19351817,19348791,19347736,19347028,19346874,19345189,19344876,19342895,19339993,19339276,19339270,19336573,19336552,19332559,19331830,19330026,19321440,19318491,19318089,19309322,19305137,19303885,19302219,19298746,19297317,19296337,19295915,19294769,19293287,19292788,19291875,19289498,19287958,19287463,19287195,19286999,19286843,19279387,19277210,19276551,19276448,19276375,19274075,19273710,19273598,19273588,19270646,19270098,19267931,19265551,19265193,19264955,19263877,19261747,19258312,19255450,19252416,19249676,19248552,19248224,19247656,19347737,19246647,19246451,19245591,19245247,19244339,19242126,19242059,19239324,19237633,19237606,19237173,19234440,19234438,19234109,19232460,19228762,19225536,19225112,19224585,19224462,19223905,19223463,19221500,19220630,19220422,19219602,19219073,19217709,19217391,19217357,19217035,19216023,19214744,19214186,19212663,19212643,19212102,19211769,19209008,19208740,19208263,19204927,19204208,19203586,19202062,19201868,19201468,19146777,19146679,19145674,19144715,19141643,19141477,19141397,19141386,19138991,19137883,19136058,19129997,19125417,19124506,19121375,19116388,19115684,19107228,19106616,19106603,19106109,19103203,19100681,19100519,19098711,19098288,19098008,19097418,19096302,19096301,19094228,19092295,19091625,19091459,19086036,19085961,19084934,19084918,19082758,19082441,19082401,19081178,19076682,19074885,19074876,19074170,19072763,19071156,19067849,19067003,19065769,19065760,19065343,19064990,19064572,19064568,19063876,19061288,19147537,19060927,19060923,19060337,19054132,19052872,19052714,19048622,19048399,19048115,19047144,19046801,19046423,19043414,19040285,19035278,19034659,19034345,19034270,19034233,19033390,19033382,19031258,19029954,19029147,19027352,19026650,19026165,19026164,19022222,19020765,19020764,19020758,19020536,19020308,19018238,19016757,19015633,19011642,19011621,19010591,19005564,19003964,19002614,17403783,18265644,18264135,18264133,18262501,18260640,18259947,18258602,18258596,18256893,18256523,18251181,18250150,18250140,18249187,18249029,18248785,18246126,18243116,18242117,18240345,18238895,18235223,18234968,18234963,18234542,18230339,18230337,18230179,18230133,18226502,11251969,15538975,17130840,19011633,20504876,20541486,20638924,20699639,20731661,20824703,20826787,20827430,20832539,20842446,20855462,20861852,20861914,20862745,20886596,20922573,20935061,20939739,20963515,21042017,21043833,21046311,21047201,21048031,21051533,21060032,21061181,21061328,21061796,21070477,21072901,21077165,21080063,21080251,21086258,20134482,20404322,20436704,20452981,20491788,20542620,20563922,20589130,20598361,20060114,20122687,20466628,20466633,20535124,20591580,20663147,20673369,20688913,20393600,20652953,20664182,20940029,20947822,21075072,21115891,21115940,16024788,16227609,16337599,16537920,16857591,16866370,19244234,19854137,20124455,20124456,20202977,20407015,20442586,20444664,20571075,20619763,20622899,20685653,20686376,20696760,20706634,20719955,20808790,20862982,20871609,20936988,20951946,17064470,17565818,17565819,18504427,19798104,19960433,20160496,20226664,20227041,20306497,20383190,20392698,20400976,20417621,20423464,20457898,20479273,20542001,20551268,20049641,20075707,20127977,20406462,20429933,20457152,20473327,20504344,19573080,19147582,19001852,18306460,18267949,18226366,18471974,18469517,18469003,18468835,18467333,18467159,18465330,18465329,18465328,18464525,18462472,18459109,18458532,18455581,18455580,18454316,18454141,18454140,184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AF209136,AF209148,AF209149,AF209150,AF209151,AF209152,AF209153,AF209154,AF209155,AF209156,AF210309,AF210310,AF240684,AF240685,AY270155,AY359814,AY390341,AY838896,CH471108,NM_001126114,NM_001126113,NM_001126112,NM_001126115,NM_001126116,NM_001126117,AB118156,AC007421,AC087388,AF135121,AF136271,AF209128,AF209129,AF209130,AF209131,AF209132,AF209133,AF209134,AF209135,NM_000546,DQ186652,DQ191317,DQ263704,DQ286964,DQ401704,DQ485152,DQ648883,DQ648884,DQ648885,DQ648887,EF101867,DQ186651,EF101868,DQ075362,DQ485151,DQ486036,DQ486038,DQ486039,DQ486040,DQ812984,M13121,M22881,M22898,U63714,U94788,X54156,AB082923,AF052180,AF307851,AK223026,AK225838,AK297462,AK297927,AK303277,AM076970,AM076971,AM076972,AU131823,AY429684,AY627884,BC003596,BT019622,AK312568,CR608294,CR624912,DA308036,DA932053,DQ186648,DQ186649,DQ186650,EF101869,FJ207420,M14694,M14695,X01405,X02469,X60010,X60011,X60012,X60013,X60014,X60015,X60016,X60017,X60018,X60019,X60020,NG_017013 AAF36362,AAF36374,AAF36375,AAF36376,AAF36377,AAF36378,AAF36379,AAF36380,AAF36381,AAF36382,AAF63442,AAF63443,AAK76358,AAK76359,AAP30003,AAR13239,AAQ90158,AAV80424,EAW90140,AAF36361,NP_000537,NP_001119586,NP_001119585,NP_001119584,NP_001119587,NP_001119588,NP_001119589,BAD11806,AAD28535,AAD28628,AAF36354,AAF36355,AAF36356,AAF36357,AAF36358,AAF36359,AAF36360,ABA29757,ABB80262,ABB72446,ABB80266,ABD62752,ABF61800,ABG49480,ABG49481,ABG49482,ABL09846,ABA29756,EAW90141,BAG64357,ABM86630,EAW90143,EAW90144,EAW90145,AAZ05887,ABF61799,ABF51616,ABF51617,ABF51618,ABF51619,ABG67755,AAA59987,AAA59988,AAB39322,AAC12971,CAA38095,BAC16799,AAG28785,BAD96746,BAG59884,BAG60244,EAW90142,BAG35463,CAJ28922,CAJ28924,CAJ28923,AAR10356,AAT40418,AAH03596,AAV38428,ABA29753,ABA29754,ABA29755,ABL09848,ACI25593,AAA61211,AAA61212,CAA25652,CAA26306,CAA42625,CAA42626,CAA42627,CAA42628,CAA42629,CAA42630,CAA42631,CAA42632,CAA42633,CAA42634,ABL09847,P04637,Q0PKT5,Q0ZAJ9,Q0ZAK0,Q0ZAK1,Q19RW5,Q19RW6,Q1HGV0,Q1HGV1,Q1HGV2,Q1HGV3,Q1MSW8,Q1MSW9,Q1MSX0,Q27HK5,Q2XN98,Q2XSC7,Q3LRW1,Q3LRW2,Q3LRW3,Q3LRW4,Q3LRW5,Q4FEW1,Q53GA5,Q5U0E4,Q6IT77,Q761V2,ABM83418,CAA42635 Hs.654481 FLJ92943|LFS1|P53|TRP53|p53 OTTHUMP00000221340|antigen NY-CO-13|cellular tumor antigen p53|p53 antigen|p53 transformation suppressor|p53 tumor suppressor|phosphoprotein p53|transformation-related protein 53|tumor suppressor p53 protein-coding 1625644 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 11030628,19228369,18277909,18277906,17851056,15657359,15004724,14707453,12477932,12019168,11181995,15893728,16344560,17207965,20800603 63970 NM_022112,AP000920,CH881036,AB045830,AB045831,AB045832,AK314286,AY302135,BC069399,BC069426,EF693749,AI872153,AL703609,DB111427,DB129822,NM_001195194,NM_001195195 NP_071395,EAW50498,EAW50499,EAW50500,BAB16421,BAB16422,BAB16423,BAG36945,AAP57627,AAH69399,AAH69426,ABS42982,Q9HCN2,NP_001182123,NP_001182124,ADQ32899 Hs.160953 P53AIP1 p53-regulated apoptosis-inducing protein 1 protein-coding 1317577 TP53BP1 tumor protein p53 binding protein 1 1580863,2325154,2325153 9748285,12556884,19626602,19536092,19176521,19116388,19074885,19064641,19001859,18996087,18986980,18931659,18840612,18804090,18664457,18380789,18337245,17985346,17984114,17940005,17927872,17695720,17637749,17634560,17591918,17546051,17190600,17161371,17081983,17043355,16964243,16314399,17525332,12607005,16294045,16187115,16094384,16051665,15970701,15840649,15611139,15574327,15542852,15539948,15525939,15489334,15342556,15302935,15279780,14702039,14695167,14690447,14576432,12824158,12697768,12668657,12646190,12551934,12477932,12447382,12446782,12364621,12351827,12170762,12110597,11877378,11042216,8910340,8896460,8016121,7890747,15364958,14978302,16169070,12447390,12792649,15456759,15856006,10646849,19876065,16294047,15149599,16901786,17884766,18029348,19228710,19414588,19422301,19615732,19650074,19656881,19690177,19806024,20010693,20081839,20106900,20307547,20351298,20372852,20379614,20385987,20453000,20453858,20016603,20596616,19394292,20724228,16872911,21077165,20644561,20646866,20686496 2325154,2325153 7158 NM_005657,NM_001141980,NM_001141979,AC018924,AY904026,CH471125,AB210025,AF078776,AK123418,AK292915,AK295764,AK307405,BC063119,BC112161,BP228994,BX537418,U09477 NP_005648,NP_001135452,NP_001135451,AAW69392,EAW92604,EAW92605,BAE06107,AAC62018,BAG53901,BAF85604,BAH12183,AAI12162,CAD97660,AAA21596,Q12888 Hs.440968 53BP1|FLJ41424|MGC138366|p202 p53-binding protein 1|p53BP1|tumor protein 53-binding protein, 1|tumor protein p53-binding protein, 1|tumor suppressor p53-binding protein 1 protein-coding 1313500 TP53BP2 tumor protein p53 binding protein, 2 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9345910,20562859,10498867,8668206,11684014,12694406,14729977,9748285,15782125,19539330,19536092,19246451,18793611,18719108,17965023,17594908,17081983,16713569,16620772,16169070,16139958,16098144,16091363,15986435,15757645,15731768,15592436,15489334,15324660,15231748,15144186,14766226,12477932,11278422,11027272,10646860,10631318,10508479,9169421,8875926,8549741,8016121,11278849,15706352,14985081,17474147,19377511,19507243,20034025,20379614,8626687,20800603 7159 AK316103,AL357233,BC040247,BC046150,BC058918,BX425756,U09582,U58334,NM_001031685,NM_005426,AC096542,CH471100,AA961496,AI042183,AJ318888,AK294432,AK294654,AK294964,AK295378,AK316016 BAH14474,AAH40247,AAH46150,AAH58918,AAA21597,AAC50557,Q05BL1,Q13625,BAH14387,NP_001026855,NP_005417,EAW93247,EAW93248,CAC83012,BAG57677,BAH11835,BAG58037,BAG58337 Hs.523968 53BP2|53BP2S|ASPP2|BBP|P53BP2|PPP1R13A|p53BP2 BCL2-binding protein|apoptosis-stimulating of p53 protein 2|apoptosis-stimulating protein of p53, 2|renal carcinoma antigen NY-REN-51|tumor suppressor p53-binding protein 2 protein-coding 1351465 TP53CP tumor protein p53-competing protein 9405685 7160 1318140 TP53I11 tumor protein p53 inducible protein 11 1580863 19096915,9305847,17482569,16344560,16170329,15225615,14702039,12883691,12477932,9110174,8619474 9537 NM_006034,NM_001076787,AC068858,AC092733,CH471064,AF010315,AK026607,AK054815,AK056379,AK096176,AK292837,BC000443,BC003010,BC045666,BC065557,BC071606,CR602540,DA190266,DA729260,U79302 NP_006025,NP_001070255,EAW68052,EAW68053,EAW68054,EAW68055,EAW68056,EAW68057,AAC39533,BAC04717,BAF85526,AAH45666,AAB50226,O14683,Q8N8U5,Q99785 Hs.554791 PIG11 p53-induced gene 11 protein|p53-induced protein|tumor protein p53-inducible protein 11 protein-coding 1605319 TP53I13 tumor protein p53 inducible protein 13 16303743,14767535,14702039,12477932 90313 BC001593,BC004507,CR594148,CR612916,CR621821,NM_138349,AB110214,AC104564,CH471159,CS051131,AB110209,AK075341,AK093030,AL137404 AAH01593,Q8NBR0,Q9NTB5,NP_612358,BAD08208,EAW51192,EAW51193,EAW51194,EAW51195,CAI72061,BAD08203,BAC11555,CAB70727 Hs.514050 DSCP1 damage-stimulated cytoplasmic protein 1|tumor protein p53-inducible protein 13 protein-coding 1602900 TP53I3 tumor protein p53 inducible protein 3 The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 19170196,19625176,19692168,19773279,20023697,20453000,19573080,19349281,19343046,19336552,19064572,18801469,18676680,16169070,15815621,15491642,15489334,15192123,15067011,12477932,11919562,10840161,9373149,9305847,8125298,16009130,20603616 9540 NM_004881,NM_147184,AC008073,AF010317,CH471053,DQ232851,AF010309,AK223382,AK297579,AY371700,BC000474,BC018819,BT007149,CR605377,CR619579 NP_004872,NP_671713,AAY14665,AAC39535,EAX00762,EAX00763,EAX00764,EAX00765,EAX00766,ABB02183,AAC39528,BAD97102,BAG59969,AAQ90166,AAH00474,AAP35813,Q53FA7 Hs.50649 PIG3 OTTHUMP00000200726|p53-induced gene 3 protein|quinone oxidoreductase PIG3|quinone oxidoreductase homolog|tumor protein p53-inducible protein 3 protein-coding 1349699 TP53INP1 tumor protein p53 inducible nuclear protein 1 1580863 20581827,12477932,12438758,12067065,18277909,18277906,17537403,17393983,16521180,16344560,16044147,15489334,14702039,12851404,11511362,15706352,18974142,20889853 94241 AK125880,AK130074,AK315071,AL133074,AL833652,BC074813,BC074868,DB086880,NM_001135733,AB062056,AC087752,CH471060,AB017926,AB017927,AF409114,AF409115,AK025792,AK123608,NM_033285 BAG37542,AAH74813,AAH74868,Q96A56,NP_150601,NP_001129205,BAB62151,BAB62152,EAW91739,EAW91740,EAW91741,BAB62149,BAB62150,AAL04513,AAL04514 Hs.492261 DKFZp434M1317|FLJ22139|SIP|TP53DINP1|TP53INP1A|TP53INP1B|Teap|p53DINP1 p53-dependent damage-inducible nuclear protein 1|p53-inducible p53DINP1|stress-induced protein|tumor protein p53-inducible nuclear protein 1 protein-coding 1352381 TP53INP2 tumor protein p53 inducible nuclear protein 2 737633,1580863 19934309,19056683,17238154,15489334,12477932,11780052 737633 58476 NM_021202,AL109824,CH471077,AJ297792,AK025412,AK027153,AK292443,AL122050,AL137597,AY422170,BC035639 NP_067025,CAI19373,CAI19374,CAI19375,EAW76256,EAW76257,EAW76258,CAC82592,BAF85132,AAR23799,AAH35639,Q5JX66,Q8IXH6 Hs.516994 C20orf110|DKFZp434B2411|DKFZp434O0827|DOR|FLJ21759|FLJ23500|PINH|dJ1181N3.1 OTTHUMP00000030703|PIG-U|diabetes and obesity regulated|p53-inducible protein U|tumor protein p53-inducible nuclear protein 2 protein-coding 1345974 TP53L tumor protein p53-like 9618472 8461 1317644 TP53RK TP53 regulating kinase 1580863 11546806,17712528,16600182,16189514,15489334,14702039,12914926,12659830,12477932,11780052,8889548,15380516,20677014 112858 BC035461,BC066309,BM702732,CR606281,AL031055,AL133520,CH471077,AB017505,AB065434,AK096502,AK315182,BC009727,BC010637,BC019621,NM_033550 AAH66309,Q96S44,NP_291028,CAC00561,CAI20059,CAJ30016,EAW75727,BAB61875,BAB62041,BAG53306,BAG37623,AAH09727,AAH10637 Hs.440263 BUD32|C20orf64|Nori-2|Nori-2p|PRPK|dJ101A2 TP53-regulating kinase|p53-related protein kinase protein-coding 1345809 TP53TG1 TP53 target 1 (non-protein coding) 1580863 9713990,12690205,12477932 11257 NR_015381,AC005045,CH236949,CH471091,AB007455,AB007456,AB007457,AB007458,AK292782,BC002709,BC061927,BC068535,BC103631,BT009845,CR542141,CR601454 EAL24178,EAW76955,EAW76956,EAW76957,EAW76958,EAW76959,BAA78640,BAA78641,BAA78642,BAA78643,BAF85471,AAP88847,CAG46938,Q9Y2A0 Hs.274329 NCRNA00096|P53TG1|P53TG1-D|TP53AP1 miscrna 1602331 TP53TG3 TP53 target 3 14702039,12477932,10534768 24150 NM_016212,AC138907,AB023508,AB023509,AK097435,AK312220,AL133588,BC096700,BC096733,BC098165,BC099842,CR541650 NP_057296,BAA84978,BAA84979,BAG35153,CAH10710,AAH96700,AAH96733,AAH98165,AAH99842,CAG46451,Q9ULZ0 Hs.513537,Hs.706716,Hs.592038 P53TG3|TP53TG3A|TP53TG3B|TP53TG3C|TP53TG3D TP53-inducible gene 3 protein|TP53-target gene 3 protein|p53 target gene 3 protein-coding 3302253 TP53TG3B TP53 target 3B 10534768,12477932 729355 AB023508,AB023509,AC141257,AK097435,AK312220,AL133588,BC096700,BC096733,BC098165,BC099842,CR541650,NM_001099687 AAH96700,AAH96733,AAH98165,AAH99842,BAA84978,BAA84979,BAG35153,CAG46451,CAH10710,NP_001093157,Q9ULZ0 Hs.513537,Hs.592038,Hs.706716 MGC119888|TP53TG3|TP53TG3A|TP53TG3C|TP53TG3D TP53-inducible gene 3 protein|TP53-target gene 3 protein protein-coding 1350426 TP53TG5 TP53 target 5 10719363,15489334,12477932,11780052 27296 HC044599,NM_014477,AL021578,CH471077,AB017802,AK295308,BC036785 CBH30629,NP_055292,CAC18107,EAW75858,EAW75859,BAA76405,BAG58288,AAH36785,Q9Y2B4 Hs.401982 C20orf10|CLG01 TP53-inducible gene 5 protein|TP53-target gene 5 protein protein-coding 1604844 TP63 tumor protein p63 This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq] 2315431,2315433,2315430,1600403,2315432,2315434,2315435,2315436 16618808,16616891,16581802,16575619,16516862,16481749,16462763,16449968,16446369,16417229,16413471,16410722,16406339,16398404,16343436,16324199,16322335,16319531,16319057,16283378,16273287,16273188,16258268,16187309,16181796,16152605,16133456,16082248,16007146,15988026,15988020,15983386,15965232,15944736,15922574,15875781,15846104,15761962,15611636,15578720,15551738,15539951,15529180,15489655,15489334,15467455,15389254,15359011,15254760,15201986,15024707,15001991,14757278,14729977,14684701,14656652,14654529,14654522,14599865,14555649,14519656,12969350,12954772,12939657,12815266,12788532,12782800,12692135,12534798,12533521,12525544,12477932,12379768,12379767,12374749,12368193,12358808,12357472,12161593,12102658,12086851,12037717,11957139,11932750,11929852,11925430,11893750,11879774,11839669,11787035,11739646,11733180,11727253,11532371,11528512,11477076,11462173,11336476,11248048,11238924,11181451,11181441,11159940,10935472,10839977,10805802,10744705,10535733,10485447,10469295,9799841,9799226,9703973,9662346,9618472,9405685,8889548,8695800,12481011,12750249,12653579,12185332,12640112,11278685,20463571,20211142,20888799,20950370,21048031,21063684,19898932,20644729,20871597,20308539,20445549,20607803,11106548,18246802,18330953,18937546,19170196,19188816,19353588,19430419,19450441,19458633,19517019,19526317,19530185,19577853,19578750,19586494,19622632,19625176,19668228,19676060,19690760,19690775,19692168,19700772,19725154,19773378,19781362,19815500,19829080,19843673,19858204,19898465,19903181,19920075,20016275,20023394,20038814,20081800,20100581,20107313,20145131,20182342,20219920,20298673,20379614,20424325,20442293,20052674,20410354,12446779,12446784,9774969,9662378,11641404,10373484,10657951,18029348,19451233,19402389,19369629,19347829,19345189,19342891,19278431,19267405,19239089,19239083,19142959,19124002,19092634,19089994,19068396,19049519,19032382,18971778,18955789,18927586,18833815,18831009,18813784,18813120,18806757,18801085,18794855,18792980,18769144,18726671,18676680,18662989,18633439,18626511,18615589,18603493,19282665,18593911,18515319,18483491,18432259,18418053,18412244,18411264,18364388,18328806,18317223,18311114,18256893,18256694,18203782,18199584,18198175,18194839,18192965,18087216,18085379,18064689,18048390,18037962,17998283,17984111,17965458,17951196,17915261,17905096,17903252,17880529,17716971,17688405,17637751,17637746,17615180,17609671,17606614,17599745,17582001,17581882,17525625,17521434,17499344,17498688,17446929,17404570,17399686,17392828,17385050,17336302,17312919,17276940,17188034,17172858,17159913,17106255,17050669,17018588,16979518,16842248,16831876,16804722,16740912,16715076,16681688,16681687,16679535,16630179,20972438,17822623,20357260,20403333,20457941,21075072,21115930,20613985,20634891,20348956,20714441,20962848,20379195,20638300,20729916,20829881,21164283,20150431,20951678 2315431,2315433,2315430,1600403,2315432,2315434,2315435,2315436 8626 GQ202689,GQ202690,NM_001114978,NM_001114979,NM_001114980,NM_001114981,NM_001114982,NG_007550,AC063939,AC078809,AC117486,AF116769,AF116770,AF124539,AF124540,AY339663,AY341143,AY341144,AY342152,AY342153,AY342154,NM_003722,BC039815,CB241431,Y16961,CH471052,AB010153,AB016072,AB016073,AB042841,AF075428,AF075429,AF075430,AF075431,AF075432,AF075433,AF091627,AF116771,AJ315499,AK304127 ACV53609,ACV53610,NP_003713,NP_001108450,NP_001108451,NP_001108452,NP_001108453,NP_001108454,AAF43487,AAF43488,AAF43489,AAF43491,AAF43492,AAF43493,AAF43486,AAF43490,AAG45607,AAG45608,AAG45610,AAG45611,AAG45609,AAG45612,AAQ63449,AAQ63450,AAQ63451,AAQ63452,AAQ63448,AAQ63453,BAH14112,AAH39815,CAA76562,Q9H3D4,ABZ92198,AAQ63454,EAW78112,EAW78113,EAW78114,EAW78115,EAW78116,EAW78117,EAW78118,EAW78119,EAW78120,BAA32433,BAA32592,BAA32593,BAB20591,AAC62633,AAC62634,AAC62635,AAC62636,AAC62637,AAC62638,AAC43038,AAF61624,CAC48053 Hs.137569 AIS|B(p51A)|B(p51B)|EEC3|KET|LMS|NBP|OFC8|RHS|SHFM4|TP53CP|TP53L|TP73L|p40|p51|p53CP|p63|p73H|p73L CUSP|OTTHUMP00000209734|OTTHUMP00000209738|OTTHUMP00000209740|OTTHUMP00000209741|OTTHUMP00000209742|amplified in squamous cell carcinoma|chronic ulcerative stomatitis protein|keratinocyte transcription factor KET|transformation-related protein 63|tumor protein 63|tumor protein p53-competing protein|tumor protein p53-like|tumor protein p63 deltaN isoform delta|tumor protein p73-like protein-coding 1316062 TP73 tumor protein p73 This gene encodes tumor protein p73, which is a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include p53, p63, and p73 and have high sequence similarity to one another, which allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways involving direct or indirect protein interactions, resulting in regulation of the same target gene promoters or regulation of each other's promoters. The p73 protein is expressed at very low levels in normal tissues and is differentially expressed in a number of tumors. The p73 gene expresses at least 35 mRNA variants due to the use of alternate promoters, alternate translation initiation sites, and multiple splice variations. Theoretically this can account for 29 different p73 isoforms; however, the biological validity and the full-length nature of most variants have not been determined. [provided by RefSeq] 2291831,2291830,2291837,2290584,2290587,2290585,2291835,2291842,2290492,2290586,2291838,2290590,2290582,2290588,2291833,2291834,2291836,2298528,2298530,2298529,2290583,2290589,1580863,1599583 17716971,16170377,20308539,19947923,18573881,20803057,21093410,19779497,20010785,20146801,20471636,18701437,18678646,18593586,18579560,18565851,18555006,18546269,18499675,18480060,18477895,18469517,18421303,18418051,18362891,18350258,18343378,18342333,18289041,18260640,18259191,18239687,18234963,18174154,18049450,18022156,17982488,17952118,17912537,17889669,17825253,18701449,17761206,10469568,11748232,14729977,15678106,10391251,10391249,19585505,19576172,19523927,19442657,19426493,19423161,19390575,19386249,19360352,19293798,19204927,19197996,19188449,19182530,19173293,19158275,19148480,19139399,19111660,19109226,19106635,19096009,19074885,19020940,19012493,19008105,19008096,18988287,18978678,18950845,18922894,18719392,17693405,17690711,17626635,17617876,17611664,17496887,17452332,17446929,17428654,17385050,17347683,17346710,17336302,17304243,17297437,17169329,17150106,17136456,17094900,17058198,17047653,17018588,17013834,16980297,16953234,16950799,16869745,16831876,16818688,16815295,16814250,16750013,16741250,16738062,16721041,16710414,16645632,16636659,16601753,16580132,16449968,16436381,16434604,16430884,16413471,16397624,16344560,16343436,16290057,16235026,16205639,16203738,16195739,16181796,16135803,16110322,16087678,16087177,16044147,15985436,15978938,15975558,15921610,15919663,15877106,15865927,15865923,15849742,15813917,15769743,15741235,15737644,15734740,15723830,15723718,15650240,15609309,15598310,15578704,15572666,15572378,15558019,15492852,15492805,15489334,15475076,15466174,15450420,15390192,15360002,15359011,15302867,15291355,15184504,15180941,15175157,15175114,15161684,15138575,15081420,17695396,15077164,15070730,15066318,15033688,14760085,14757278,14732927,14719122,14701724,14678968,14654547,14654522,14634023,14618632,14614455,14522906,14511408,12969350,12954772,12954612,12934108,12920125,12901798,12890487,12875622,12853970,12841870,12824179,12810679,12789260,12782576,12766778,12761493,12750388,12732139,12676926,12642871,12639967,12601175,12584188,12546528,12534345,12519788,12477932,12430182,12427762,12388104,12353228,12213815,12167641,12164325,12150978,12133444,12097319,12095638,12082536,12080043,12034725,12032848,12023887,11988839,11957139,11925430,11920588,11909952,11897798,11891335,11870517,11859407,11844800,11844794,11840343,11839584,11832207,11804596,11788901,11753569,11720435,11709703,11706030,11675903,11470228,11389695,11279015,11278685,11238924,11223036,11103943,11101847,10961991,10873608,10802655,10760569,10744705,10648616,10574463,10509157,10449409,10435614,10419905,10400412,10391250,10381648,10362363,10221564,10207051,10203277,10102633,9891077,9802988,9796703,9721206,9537234,9296498,9288759,15893728,12730672,20540768,20336668,20530692,10373484,11275986,15483136,15844599,17110958,17592138,18280240,19016816,19509292,19509552,19541822,19581013,19597475,19657586,19666006,19671150,20615966,19727727,19763140,19789190,19815500,19851296,19861536,19876867,19885566,19952113,19956069,20081800,20100536,20185758,20198315,20211107,20298673,19690970,20528922,20807817,20675383,20676143,19763917,20926182,19777343,20644729,20845513,21048031,20644561,20644956,20733477 2291831,2291830,2291837,2290587,2290585,2291835,2291842,2290492,2290586,2291838,2290590,2290588,2291833,2291834,2291836,2298528,2298530,2298529,2290583,2290589,1599583 7161 NM_001126240,NM_001126241,NM_001126242,AB031234,AF077616,AF077618,AF077619,AF077620,AF077621,AF077625,AF077626,AF077627,AF077628,AF079082,AF079083,AF079084,AF079085,AF079086,AF079087,AF079088,AF079089,AF079090,AF079091,AF079092,AF079093,AF079094,AF235000,AL136528,NM_005427,CH471130,AB055065,AB055066,AK295669,AK302118,AK304177,AK304784,AY040827,AY040828,AY040829,BC117251,BC117253,CR599961,DA439168,DA446656,DC345760,Y11416,NG_017035 NP_005418,NP_001119712,NP_001119713,NP_001119714,AAC61887,AAD39696,CAI19123,CAI19124,CAI19125,CAI19126,EAW71463,EAW71464,EAW71465,EAW71466,EAW71467,EAW71468,BAB87244,BAB87245,BAH12150,BAH13630,BAH14127,BAH14257,AAK81884,AAK81885,CAI19127,AAK81886,AAI17252,AAI17254,CAA72219,CAA72220,CAA72221,O15350,ADR83099 Hs.697294 P73 OTTHUMP00000003479|OTTHUMP00000003480|p53-like transcription factor|p53-related protein|tumor protein p73 protein-coding 1345613 TPBG trophoblast glycoprotein 1580863 10366710,18833005,18567615,17978129,16646078,16616918,16303743,15489334,14574404,12481437,12477932,11903056,11798178,8895545,8132670,7593330 7162 AJ012159,AL121977,CH471051,CQ782726,AK074786,AK074790,AK291170,BC037161,CR626321,Z29083,NM_006670,AI342491,AI857997,NM_001166392 NP_006661,CAA09930,CAI21546,EAW48683,CAF85961,BAG52001,BAF83859,AAH37161,Q13641,CAA82324,NP_001159864 Hs.82128 5T4|5T4-AG|5T4AG|M6P1 5T4 oncofetal antigen|5T4 oncofetal trophoblast glycoprotein|5T4 oncotrophoblast glycoprotein|trophoblast glycoprotein protein-coding 1344084 TPCN1 two pore segment channel 1 Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM] 724765 19387438,16382101,16344560,14702039,12477932,12168954,10753632,10574461,19620632 724765 53373 NM_017901,NM_001143819,AC010178,AC089999,AC127004,CH471054,AB032995,AK000619,AK057414,AK075071,AK093490,AK295022,AK296268,AY083666,BC007419,BC069234,BC136795,BC136796,BC142664,BC150203,BC152423,CR599771,DA777641,AK025838,BC068001,BC110885,CR614337,CR626432 NP_060371,NP_001137291,EAW98046,EAW98047,BAA86483,BAA91290,BAC11385,BAG52729,BAH11951,BAH12298,AAM01199,AAI36796,AAI36797,AAI42665,AAI50204,AAI52424,Q9NWT7,Q9ULQ1 Hs.524763 FLJ20612|KIAA1169|TPC1 two pore calcium channel protein 1|two-pore channel 1|two-pore segment channel 1|voltage-dependent calcium channel protein TPC1 protein-coding 1323411 TPCN2 two pore segment channel 2 TPCN2 is a putative cation-selective ion channel related to CATSPER (see CATSPER1; MIM 606389) and transient receptor potential channels (see TRPC1; MIM 602343) (Clapham and Garbers, 2005 [PubMed 16382101]).[supplied by OMIM] 1580863 20585627,19387438,18488028,16554811,16382101,15489334,15342556,15203218,14702039,12477932,20720007,20495006,19620632 219931 NM_139075,AP003071,CH471076,AB209253,AK023366,AK123089,AK298919,AL137479,AW177543,AY029200,BC063008,BP380645,CD636711,NG_016153 NP_620714,EAW74734,EAW74735,EAW74736,EAW74737,BAD92490,BAG51185,BAG61025,CAB70760,AAK31802,AAH63008,Q59G56,Q8NHX9 Hs.131851 FLJ41094|SHEP10|TPC2 two pore calcium channel protein 2|two-pore calcium channel protein 2|voltage-dependent calcium channel protein TPC2 protein-coding 1315573 TPD52 tumor protein D52 1580863 15576473,9484778,8632896,16112108,10942595,18959755,18710659,18698023,17947466,17418805,17081983,16631610,16620967,15986428,15489334,14996714,14702039,12963375,12477932,11594751,11549320,9373149,8812487,8125298,7796418,18800346,19041365,19732746,19834535,20032513,20379614,20423888,20946871,20923822,20641033 7163 NM_005079,NM_001025253,NM_001025252,AC009686,CH471068,AF202897,AK057075,AK223631,AK295468,AK296615,AK308983,AK313135,BC018117,BI546831,BI551254,BT019444,BX640835,CA842828,CR542034,CR542064,CR591025,EF152584,S82081,U18914,GQ499324,GQ499325,GQ499326,GQ499327,GQ499328 NP_005070,NP_001020424,NP_001020423,EAW87073,EAW87074,AAO22156,BAD97351,BAH12078,BAH12400,BAG35954,AAH18117,AAV38251,CAE45908,CAG46831,CAG46861,ABO34073,AAB36475,AAC50183,P55327,ABM81958,ABM85137,ACY08776,ACY08777,ACY08778,ACY08779,ACY08780 Hs.368433 D52|N8L|PC-1|PrLZ|hD52 prostate and colon associated protein|prostate leucine zipper|protein N8|tumor protein D52 protein-coding 1320807 TPD52L1 tumor protein D52-like 1 This gene encodes a member of the tumor protein D52 (TPD52) family. The encoded protein contains a coiled-coil domain and may form homo- or hetero-dimer with TPD52 family members. The protein is reported to be involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed, but the full-length nature of some variants has not yet been determined. [provided by RefSeq] 1580863 9484778,16112108,12963375,16631610,16620967,14761963,14702039,12477932,11549320,9730602,8812487,7796418,16169070,11594751 7164 NM_003287,NM_001003396,NM_001003397,NM_001003395,AL121938,AL136128,CH471051,AF004427,AF208012,AK090516,AK124817,AK291866,AK291872,AK291887,BC002375,BE409865,CR599743,U44427,U44428,U44429 NP_003278,NP_001003396,NP_001003397,NP_001003395,CAI19645,CAI19647,CAI19648,CAI19649,CAI23002,CAI23003,CAI23004,EAW48142,EAW48143,EAW48144,EAW48145,EAW48146,EAW48147,AAC98475,AAG49634,BAF84555,BAF84561,BAF84576,AAH02375,AAB40894,AAB40895,AAB40896,Q16890,Q15730 Hs.591347 D53|MGC8556|TPD52L2|hD53 OTTHUMP00000017134|tumor protein D52-like 2|tumor protein D53 protein-coding 1352243 TPD52L2 tumor protein D52-like 2 1302805,1580863 9484778,16631610,17081983,16620967,16344560,16112108,15489334,14702039,12477932,11780052,11549320,9838088,9373149,8812487,8125298,16341674 1302805 7165 AK293349,AK297064,AK298366,AK314501,AU124850,AY323819,BC006804,BI754201,BM473873,BM833522,BT019631,CR542036,CR600606,CR603624,CR749208,NM_199362,NM_003288,NM_199361,NM_199363,NM_199359,AL118506,CH471077,AB062396,AF004429,AF004430,AK055068,AK125709,AK128744,AK223031,NM_199360 BAG56865,BAG59585,BAG60608,BAG37101,AAQ95044,AAH06804,AAV38437,CAG46833,CAH18065,O43399,Q53GA0,Q5J908,Q5JWU6,Q5U0E0,Q68E05,Q6FGS1,ABM82047,NP_955392,NP_955394,NP_003279,NP_955393,NP_955395,NP_955391,CAC15492,CAI21898,CAI21899,CAI21900,CAI21901,CAI21902,EAW75194,EAW75195,EAW75196,EAW75197,EAW75198,EAW75199,EAW75200,EAW75201,BAB93483,AAC98477,AAC98478,BAG51460,BAD96751,ABM85226 Hs.473296 D54|DKFZp686A1765|hD54 HCCR-binding protein 2|tumor protein D54 protein-coding 1606756 TPD52L3 tumor protein D52-like 3 16631610,16189514,14702039,12477932,15342556 89882 NM_001001874,NM_033516,NM_001001875,AL133480,CH471071,AI032390,AK057479,AY032877,BC017589,BC033792,BC042113,BI463769,HC007194,HC044679,BP369721,DB507802 NP_001001874,NP_277051,NP_001001875,CAI13289,CAI13290,CAI13291,EAW58745,EAW58746,EAW58747,BAB71505,AAK66820,AAH17589,AAH33792,AAH42113,Q96J77,CBH19402,CBH30669 Hs.351815 MGC26757|MGC45374|NYD-SP25|NYDSP25|hD55 protein kinase NYD-SP25|testis development protein NYD-SP25|tumor protein D55 protein-coding 735482 TPH1 tryptophan hydroxylase 1 This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others. 1580457,1580458,1580459,1580460,1580461,1580462,1580463,1580464,1580465,1580466,1580467,1580468,1580469,1580863 19649213,19590397,12116191,12039872,11992558,11772685,11747434,11597824,11578639,11576585,11526473,11496367,11496362,11472792,11449402,11444684,11426508,11343864,11343598,11326294,11324941,11274651,11150890,11140838,11121198,10525150,10421874,10217286,9751214,9109552,7986090,7876115,2889273,2377472,2055111,1463016,8101440,7499362,18270970,18221792,18181017,18177948,17986837,17884826,17870198,17768266,17548152,17521439,17509016,17406648,17221847,17203304,17194593,17134762,17116352,17066254,17026953,16958027,16848783,16822601,16806099,18366104,18332644,16806098,16741719,16716203,16682118,16538180,16495936,16467214,16450114,16389593,16389591,16319504,16314762,16302021,16257348,16165107,16109589,15925123,15808291,15799788,15727508,15722951,15670397,15654285,15635702,19506906,19500158,19474754,19455600,19445671,19381154,19367581,19365399,19339052,19241972,19233335,19220488,19181488,19095219,19086053,19077664,19052197,19032968,19032713,18982004,18977032,18937498,18826425,18813430,18794762,18562131,18506706,18502553,18405071,19526457,18405062,18402117,15627807,15544576,15489334,15475734,15274037,15242065,15241435,15211625,15182943,15168220,15135070,15052272,14998306,14706424,14698468,14681922,14583797,14559114,14504413,12960746,12915291,12877392,12860364,12502014,12477932,12476329,12406341,12399958,12379098,12354289,12208565,12116193,18583979,19734157,19744316,19816759,19874574,19874868,19939457,19961731,20010449,20022223,20043001,20046373,20046510,20144688,20198979,20213726,20346360,20396435,20421849,20468064,20921119,20734064,20945066,21073637,19913121,20580984,20628086,20628266 1580457,1580458,1580459,1580460,1580461,1580462,1580463,1580464,1580465,1580466,1580467,1580468,1580469 7166 EU796664,EU796669,EU796674,X83213,AY196344,AY196345,BC106739,BC106740,BM451912,BP423529,X52836,AY196346,NM_004179,NG_011947,AC055860,AF057280,CH471064,EU796629,EU796634,EU796639,EU796644,EU796649,EU796654,EU796659 ACE96118,ACE96113,ACE96108,AAO72075,AAO72074,AAI06740,AAI06741,CAA37018,P17752,Q08EN2,Q86WC5,Q86Y19,Q86Y20,AAO72076,NP_004170,AAC69458,AAC69459,EAW68420,EAW68421,EAW68422,ACE96153,ACE96148,ACE96143,ACE96138,ACE96133,ACE96128,ACE96123 Hs.591999 MGC119994|TPRH|TRPH L-tryptophan hydroxylase|indoleacetic acid-5-hydroxylase|tryptophan 5-hydroxylase 1|tryptophan 5-monooxygenase 1|tryptophan hydroxylase|tryptophan hydroxylase (tryptophan 5-monooxygenase) protein-coding 736716 TPH2 tryptophan hydroxylase 2 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. The human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq] 633509,1580863 18347598,18339632,18314252,18293859,18270970,18234415,18213624,18181017,18180764,18180753,18163388,17986837,17973628,17972101,17905754,17892388,17768266,17692928,17604842,17592484,17568567,17539919,17453063,17413454,17408646,17346350,17335389,17251907,17221847,17217922,17192895,17176492,17176491,17167340,17123728,17123708,17015812,17011525,16958027,16936760,16894395,16864580,16806105,16801378,16759340,16610957,16610949,16581035,16436194,16401665,16395128,16245070,16116490,19590397,19588223,19548263,19506906,19445671,19434366,19365399,19361870,19356604,19352219,19352218,19344641,19328558,19319927,19272410,19233335,19184136,19181488,19175813,19170664,19162119,19156168,19132526,19125211,19125159,19077664,19071164,19058789,19052197,19032968,19032713,18937842,18832011,18826444,18821565,18801407,18797398,18782386,18496129,18436425,18427560,18405071,18387780,20938755,20946355,21049304,21073637,21085052,16044172,15968084,15940290,15840421,15768392,15629698,15476687,15263906,15197398,15167691,15124006,15052272,14702039,14563478,12511643,12477932,19913121,20623453,20628086,20628266,20633049,20738857,20740293,20921119,17649681,19674121,19679166,19693267,19734157,19742166,19748542,19763617,19781560,19800079,19816759,19829168,19874574,19894072,20043001,20052688,20064585,20124538,20126463,20144688,20213726,20331984,20346360,20379614,20396435,20403506,20446882,20451217,20468064,20470849,20515362 633509 121278 NG_008279,AC090109,CH471054,AK094614,AY098914,BC114442,BC114499,NM_173353 NP_775489,EAW97277,EAW97278,EAW97279,BAC04385,AAM28946,AAI14443,AAI14500,Q14CB0,Q14CC5,Q8IWU9,Q8N1X9 Hs.376337 ADHD7|FLJ37295|MGC138871|MGC138872|NTPH neuronal tryptophan hydroxylase|tryptophan 5-hydroxylase 2|tryptophan 5-monooxygenase 2 protein-coding 737023 TPI1 triosephosphate isomerase 1 This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1599584,1300048 20471030,8571957,8503454,8125298,8061610,4022011,2925688,2243103,1602151,1339398,858628,16169070,6434534,2876430,2579079,19405953,18792062,18562316,18510744,18309519,17081983,17064784,17015754,17008404,16916647,16807684,16582619,16086671,15952740,15489334,15358119,15146421,14743370,12477932,12359716,12051920,12023819,11698297,10677844,10655478,10575546,9850739,9373149,9338582,9150948,9150946,9074930,8723724,8609635,20374271,17183658,20233700,20029029 1599584 7167 NM_000365,NG_011948,NM_001159287,NR_027483,CH471116,J04603,U47924,X69723,AK129488,AK222638,AK298809,AK300661,AK313282,AW250466,BC007086,BC007812,BC009329,BC011611,BC015100,BC017165,BC017917,BC018899,BC070129,CR541702,CR591142,CR594819,CR595027,CR595384,CR597650,CR597755,CR598153,CR604095,CR604097,CR610831,CR611208,CR611677,CR612200,CR616257,CR617208,CR618326,CR618352,CR620313,CR620677,CR622790,CR625901,CR626424,DB444195,M10036,CR595558,HB933985,HB949917,HB963720,HC991394,HD007327,HD021130 NP_000356,NP_001152759,EAW88721,EAW88722,EAW88723,AAN86636,AAB51316,CAA49379,BAD96358,BAH12874,BAG62347,BAG36090,AAH07086,AAH07812,AAH09329,AAH11611,AAH15100,AAH17165,AAH17917,AAH70129,CAG46503,AAB59511,P60174,Q53HE2,ABM84175,ABM87577,CBG01859,CBG09649,CBG16464,CBV15379,CBV23171,CBV29910 Hs.524219 MGC88108|TPI OTTHUMP00000165244|TIM|triose-phosphate isomerase|triosephosphate isomerase protein-coding 3207650 TPI1P1 triosephosphate isomerase 1 pseudogene 1 16201836,4022011 729708 AC104458,DQ120711,NG_008262 ABC40670,Q2QD09 RCTPI1 pseudo 3005500 TPI1P2 triosephosphate isomerase 1 pseudogene 2 12477932,12690205,14702039,4022011,20677014 286016 AA905085,AC018639,AK094894,BC053624,CH236950,CH471070,NR_002187 BAG52948,EAL24104,EAL24105,EAW83711 Hs.369665 pseudo 3476539 TPI1P3 triosephosphate isomerase 1 pseudogene 3 16344560 728402 AL357141,DB021992,NR_027338 pseudo 4109586 TPI1P4 triosephosphate isomerase 1 pseudogene 4 9847074 728629 AC020593,NG_011550 pseudo 1348190 TPK1 thiamin pyrophosphokinase 1 This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 17295612,16344560,16262001,16087053,15664409,15489334,14702039,12953792,12690205,12477932,11342117,11342111,10567383,9847074,6303095,3896163,1332781,20379614,3060175 27010 NM_022445,AACC02000041,AC004534,AC004743,AC004833,AC004864,AC005677,AC074384,CH471146,AB028138,AF297710,AK021810,AK026374,AK091736,AK128661,AK130640,AK289652,AK308693,AY206415,BC014552,BC040555,NM_001042482,BC068460,BI770816,BX446289,CR749248,DA135998 NP_001035947,NP_071890,EAL24415,AAS00370,EAW80091,EAW80092,BAB20326,AAK01351,BAB15465,BAG52408,BAC87556,BAF82341,AAO38775,AAH40555,AAH68460,CAH18104,Q68DW6,Q6ZQX6,Q75MX1,Q9H3S4 Hs.660232 HTPK1|PP20 OTTHUMP00000202346|placental protein 20|thiamin pyrophosphokinase 1|thiamine diphosphokinase|thiamine kinase protein-coding 737098 TPM1 tropomyosin 1 (alpha) This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq] 1580447,1580863 12686598,8205619,11136687,16130169,15897890,17721995,17556658,3336363,11273725,16754800,19293840,19222994,19150014,19035361,18937355,18513529,18403758,18029348,17932326,17895359,17556170,17360712,16260624,16189514,15695827,15489334,15479242,15269838,15146197,15095301,15031138,15000344,14870975,14702039,13679858,12974739,12594734,12527301,12477932,12473556,12169652,12065096,11964245,11840567,11563548,11438684,11071908,10343096,9822100,9108196,9092943,9016781,8987992,8886980,8523464,8327508,7916663,7898523,7835079,20029029,7780795,7568216,6822572,6746613,3857586,3611073,3548719,3336357,3138425,2136742,1796905,1631061,278975,1516138,8424456,1991513,2161834,14627618,19509158,19646950,19678923,19820697,19853701,19875404,20031618,20065163,20075843,20215591,20359594,20379614,20381070,20474083,19913121,20628086 1580447 7168 NM_001018020,NM_001018007,NM_001018006,NM_001018004,NM_000366,NM_001018005,NM_001018008,NG_007557,AC079328,CH471082,AB209041,AF474156,AJ000147,AJ001055,AK055197,AK057989,AK092051,AK092573,AK129882,AK131384,AK298625,AK299387,AK301319,AK309170,AL050179,AY640414,AY640415,BC007433,BC050473,BC053545,BG107949,BX458841,CN423344,CR590047,CR591288,CR593146,CR593513,CR594134,CR595152,CR597428,CR598963,CR601382,CR602172,CR602634,CR603337,CR603403,CR604315,CR604708,CR605281,CR607138,CR607666,CR607922,CR610269,CR610855,CR612660,CR618272,CR619070,CR620556,CR621772,CR622076,CR623222,CR623323,CR623950,CR625156,CR626242,DQ424903,L02922,L02923,M19713,M19714,M19715,X12369,Z24727,GU324929,GU324930,GU324931,GU324932,GU324933,GU324934,GU324935 NP_001018020,NP_001018007,NP_001018006,NP_001018004,NP_000357,NP_001018005,NP_001018008,EAW77619,EAW77620,EAW77621,EAW77622,EAW77623,EAW77624,EAW77625,EAW77626,EAW77627,EAW77628,EAW77629,EAW77630,EAW77631,EAW77632,EAW77633,EAW77634,EAW77635,BAD92278,AAL84569,CAA03930,CAA04505,BAC85248,BAD18535,BAH12832,BAH13023,BAH13458,CAB43309,AAT68294,AAT68295,AAH07433,AAH50473,AAH53545,ABD83668,AAA16888,AAA16889,AAA61225,AAA61226,AAA61227,CAA30930,CAA80853,O15513,P09493,Q07413,Q07414,Q15657,Q1ZYL5,Q59GR8,Q6ZP76,Q8TCG4,Q9Y427,ABM84185,ABM87587,ACE87812,Q6ZN40,ACT64515,ADL14500,ADL14501,ADL14502,ADL14503,ADL14504,ADL14505,ADL14506 Hs.133892 C15orf13|CMD1Y|HTM-alpha|TMSA alpha tropomyosin|alpha-tropomyosin|cardiomyopathy, hypertrophic 3|sarcomeric tropomyosin kappa|tropomyosin 1 (alpha) isoform 1|tropomyosin 1 (alpha) isoform 2|tropomyosin 1 (alpha) isoform 3|tropomyosin 1 (alpha) isoform 4|tropomyosin 1 (alpha) isoform 5|tropomyosin 1 (alpha) isoform 6|tropomyosin 1 (alpha) isoform 7|tropomyosin 1, alpha|tropomyosin alpha-1 chain|tropomyosin-1 protein-coding 1605428 TPM2 tropomyosin 2 (beta) This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 20457903,20336778,17194691,7606936,19345583,19155175,19142688,19047562,18422639,17846275,17434307,17430991,17339586,15897890,15489334,15208309,15164053,12592607,12477932,11840567,11738357,10359609,9373149,9108196,9092943,9016781,8557685,8125298,8120097,7977374,7568216,7196531,3865200,3857586,3368322,2303454,2059197,1631061,1304342,8424456,1516138,14627618,16094730,18246790,19214762,20381070,19913121,20628086 7169 AK130045,NM_003289,NG_011620,AF209746,AL133410,CH471071,J05247,AA394062,AI360640,AI660199,AJ572605,NM_213674,AK223258,AK294522,AK300249,AK304803,BC011776,CR590682,CR595311,CR614416,CR615839,CR623852,CR626020,EU106177,M12125,M12126,M74817,M75165,X06825 NP_998839,NP_003280,AAF17621,CAI10974,CAI10975,CAI10976,CAI10977,EAW58354,EAW58355,AAA51842,BAD96978,BAG57733,BAG62015,BAG65553,AAH11776,ABU62930,AAA36773,AAA61229,AAA61230,AAB59509,CAA29971,P07951,Q5TCU3,ABM83834,ABM87158 Hs.300772 AMCD1|DA1|DA2B|NEM4|TMSB OTTHUMP00000021359|beta-tropomyosin|tropomyosin beta chain|tropomyosin-2 protein-coding 1605427 TPM3 tropomyosin 3 This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Mutations in this gene result in autosomal dominant nemaline myopathy, and oncogenes formed by chromosomal translocations involving this locus are associated with cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17353931,16130169,3418707,3018581,19487656,19405953,18699990,18382475,18300303,18029348,17376686,15302935,14702039,12805274,12665801,12477932,12467750,12196661,12176375,12163017,12105844,11493472,11106625,10871039,10807789,10619715,10587521,10216106,9108196,9092943,8889548,8886980,8293480,8167032,8120097,8002995,7956350,7704029,7663526,7590742,3865200,3024106,2869410,2538716,16916647,16838028,16710414,16344560,16297372,16236267,16189514,15953552,15888546,15822942,15527767,15489334,1516138,7568216,20308539,17081983,2455687,8424456,2161834,1829807,1796905,1286667,16236705,14627618,19953533,20012312,20223922,20356415,20381070,20179953 7170 AK301674,AK308007,AK315504,AL537561,AY004867,BC000771,BC008407,BC008425,BC015403,BC017195,BC050470,BC062740,BC072428,BC073144,BG706843,BI546300,BM674269,BX419658,BX641075,BX648485,CR589996,CR597930,CR617822,CR618509,DA472065,DA894064,M12128,X04201,X04588,NM_001043351,NM_001043352,NM_153649,NM_152263,NG_008621,AL590431,AY271223,CH471121,X79909,X79910,AA863064,AB062125,AF474157,AK026559,AK056889,AK056921,AK056997,AK092690,AK092712,AK123113,AK123571,AK125367,AK298678,NM_001043353 BAG60842,BAG63147,BAG37888,AAF87083,AAH00771,AAH08407,AAH08425,AAH15403,AAH62740,AAH72428,CAI46046,AAA36775,CAA27798,CAB37185,P06753,Q5HYB6,Q5VU58,Q5VU59,Q5VU61,Q5VU64,Q5VU70,Q5VU66,Q5VU72,Q6LDX7,Q8NAG3,Q8NAH0,Q8NI98,Q8TCG3,NP_001036818,NP_001036816,NP_001036817,NP_705935,NP_689476,CAH71260,CAH71261,CAH71262,CAH71263,CAH71264,CAH71265,CAH71266,CAH71267,CAH71268,CAH71269,CAH71270,EAW53229,EAW53230,EAW53231,EAW53232,EAW53233,EAW53234,EAW53235,EAW53236,EAW53237,BAB93457,AAL84570,BAG51839,BAC03946,BAC03956 Hs.535581,Hs.644306,Hs.654421 FLJ41118|MGC14582|MGC3261|MGC72094|NEM1|OK/SW-cl.5|TM-5|TM3|TM30|TM30nm|TPMsk3|TRK|hscp30 OTTHUMP00000034020|OTTHUMP00000034021|OTTHUMP00000034173|OTTHUMP00000218067|cytoskeletal tropomyosin TM30|gamma-tropomyosin|hTM5|heat-stable cytoskeletal protein 30 kDa|tropomyosin alpha-3 chain|tropomyosin gamma|tropomyosin-3|tropomyosin-5 protein-coding 1345461 TPM3L2 tropomyosin 3-like 2 pseudogene 12853948,12213198,3024106 252956 NG_005722,AC106873,AF458661,CH236947 TPM3L2 pseudo 4145591 TPM3P4 tropomyosin 3 pseudogene 4 3024106 402643 AC004079,CH236948,NG_005723 A6NL28,EAL24230 pseudo 4145590 TPM3P5 tropomyosin 3 pseudogene 5 3024106 644330 AC005795,NG_005726 pseudo 4145413 TPM3P6 tropomyosin 3 pseudogene 6 3024106 653758 AC022137,NG_005727 pseudo 4145475 TPM3P7 tropomyosin 3 pseudogene 7 3024106 751599 AC064847,NG_005721 pseudo 4145504 TPM3P8 tropomyosin 3 pseudogene 8 3024106 646839 AC010149,AC098823,NG_005720 pseudo 736665 TPM4 tropomyosin 4 8641132,16130169,17968984,16344560,15489334,15456888,14702039,12665801,12477932,11782456,11493472,10934142,3865200,3612796,1286667,20936779,16236705,14627618,16551573,1836432,20381070 7171 BT019634,CR599958,DA032511,DC365500,M12127,X05276,NM_001145160,NM_003290,AC008894,CH471106,AF186109,AK023385,AK300136,AK301285,AK307538,AK315076,BC002827,BC037576,BC067225,NG_015841 AAV38440,AAA36774,CAA28888,P67936,NP_001138632,NP_003281,EAW84521,EAW84522,EAW84523,EAW84524,AAG17014,BAB14554,BAG61923,BAG62844,BAG37545,AAH02827,AAH37576,AAH67225 Hs.631618 TM30p1|tropomyosin alpha-4 chain|tropomyosin-4 protein-coding 1345455 TPM5P tropomyosin 5, pseudogene 170555 NG_001060,AL034549 TPM5P|dJ1125A11.2 pseudo 1350168 TPMT thiopurine S-methyltransferase This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals. A pseudogene for this locus is located on chromosome 18q. [provided by RefSeq] 1580863 16431304,16418693,16396707,16306100,16272700,16214825,16202677,16166171,16164497,16044099,16006997,15973722,15967990,15946151,15931768,15819814,15802809,15792824,15784872,15709212,15691505,15571267,15571264,15489334,15476481,15385838,15349717,15255798,15247157,15226673,15226671,15206995,15167635,15022030,14987117,14985891,14985890,14723818,14656901,14634700,14576848,14574404,14508387,12972954,12949626,12940924,12903038,12880540,12815366,12814450,12563179,12542916,12509611,12492733,12477932,12217596,12176518,12172211,12142782,11927834,11927101,11503013,11422006,11025471,11007234,10751626,10208641,12732844,12703994,9931346,9931345,9711875,9453052,9336428,9246020,9177237,9103127,8873214,8644731,8561894,8392551,7862671,7628307,17617792,16459728,12777968,8316220,19650826,19579612,19546880,19543639,19535798,19474452,19473575,19343046,19252404,19239109,19229528,19214663,19177822,19164342,19057372,19048245,19048244,19034904,18987660,18987654,18827410,18823306,18775689,18708949,18693152,18616518,18605963,18602085,18600549,18484748,18482735,18467186,18408566,18385010,18303966,18193212,18188716,18021342,17919375,17909762,17885628,17690215,17323057,17243178,17241387,17220558,17206640,17176368,17164697,17152495,17129980,17113562,17065060,16952345,16946561,16917910,16876902,16789994,16773681,16724002,16691038,16643135,16611274,16595084,16476125,20027160,19675376,19682085,19682195,19695401,19748501,19774638,19830600,19891552,19898482,19956635,20017316,20037211,20066544,20081263,20136357,20136364,20153897,20173083,20175804,20175817,20308917,20350137,20393862,20403997,20408054,20521035,17207965,19913121,20593505,20628086 7172 NG_012137,AB045146,AF019369,AF035426,AL589723,CH471087,U30518,U81562,U81563,U81564,U81565,U81566,U81567,U81568,NM_000367,U81569,U81570,U81571,U81572,U81573,AA746081,AA825975,AF021876,AF021877,AK310420,BC005339,BC009596,BI598325,S62904,U12387,AF019364,AF019365,AF019366,AF019367,AF019368 NP_000358,BAA97037,AAC51865,AAC32289,CAH71233,EAW55393,EAW55394,EAW55395,EAW55396,EAW55397,EAW55398,EAW55399,AAC50368,AAB71625,AAB71626,AAB71627,AAB71628,AAB71629,AAB71630,AAB71632,AAB71633,AAB71634,AAB71635,AAB71636,AAB80746,AAB71631,AAB80747,AAH05339,AAH09596,AAB27277,AAC50130,P51580,Q9BS45,ADQ33207 Hs.444319 S-adenosyl-L-methionine:thiopurine S-methyltransferase|thiopurine S-methyltransferase protein-coding 1606372 TPMTP1 thiopurine S-methyltransferase pseudogene 1 7628307 400650 CH471096,U11424,AC037473,NG_004077 EAW62913,AAC50129 pseudo 735786 TPO thyroid peroxidase This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Additional splice variants have been described but their biological natures have not been determined. [provided by RefSeq] 1300048,1599648,1580863 20182447,3654979,3475693,3453124,3153466,2383265,2308857,1401057,16614712,16478776,16344560,16284446,15761037,15745925,15613581,15590661,15562032,15561711,15497454,15317218,15203218,15196594,15150267,15062578,14751036,12960013,12938097,12864797,12843174,12820316,12709678,12593722,12501244,12490071,12477932,12459031,12454013,12213873,12135610,11916616,11874711,11415848,11327880,11238503,11061528,10748076,10487692,10468986,10084596,9924196,9814507,9024270,8964831,8196171,8027236,7759120,7550241,2548579,19420105,19225535,19194833,19189706,18710471,18657294,18631006,18509003,18314161,18271683,18203013,18041648,18029453,18029348,17902201,17845204,17696828,17547680,17468186,17381485,17334650,17042691,16959834,16868133,16756464,16684826,16682284,20573721,1722671,19243353,19605678,19669106,19730683,19948975,19952225,19960894,20036902,20101889,20237496,20379614,67547,19799084,20826581,20153806,20529857,20800603 1599648 7173 NM_000547,NM_175721,NM_175722,NG_011581,AC105450,AC141930,CH471053,M25715,S46244,AB208960,AF439430,AF533528,AF533529,AF533530,AF533531,AK309868,AW874082,AY136822,BC063107,BC095448,CB986756,CD608890,DA958481,J02969,J02970,M17755,M55702,X17358,NM_175719,Y00406 NP_783650,NP_000538,NP_783652,NP_783653,AAX93261,AAX82037,EAX01087,EAX01088,EAX01089,EAX01090,EAX01091,AAA97517,AAB23676,BAD92197,AAL74416,AAN04471,AAN04472,AAN04473,AAN04474,AAN11302,AAH63107,AAH95448,AAA61215,AAA61216,AAA61217,AAA61218,AAA61219,CAA35235,CAA68467,P07202,Q16495,Q502Y3,Q53QT2,Q57YV8,Q59GZ9,Q6P534 Hs.467554 MSA|TDH2A|TPX OTTHUMP00000115535|OTTHUMP00000115536|thyroid microsomal antigen|thyroid peroxidase|thyroperoxidase protein-coding 1603717 TPP1 tripeptidyl peptidase I This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq] 20672930,17237767,19246452,19748052,20094033,20689811,9295267,12134079,10965052,11054422,10617131,10679303,14609438,8215436,9989590,15158442,10740217,15317752,19201763,19038967,19038966,18552385,18411270,17959406,17690061,17081065,16518810,16168594,16091586,15733845,15582991,15489334,15342556,15143070,14736728,14702339,12975309,12950156,12754519,12698559,12643545,12488460,12477932,12414822,12376936,12125808,11462245,11339651,11241479,10737126,10477428,10330339,9989235,9653647,9373149,8125298,20340139 1200 AK303323,AK312388,AY268890,AY358502,BC014863,BP279860,BP287220,CR591640,CR614001,NG_008653,NM_000391,AC091564,AF039704,CH471064,CQ834690,AF017456,AI023962,AK222499,AK222538,AK293518,AK293741,AK295801,AK299703,AK300998 BAG64389,BAG35305,AAQ72732,AAQ88866,AAH14863,O14773,Q53HP2,ABM82608,ABM85793,NP_000382,AAC98480,EAW68685,EAW68686,CAH05560,AAB80725,BAD96219,BAD96258,BAG57000,BAG57164,BAG58620,BAG61604,BAG62617 Hs.523454 CLN2|GIG1|LPIC|MGC21297 TPP-1|cell growth-inhibiting gene 1 protein|ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)|growth-inhibiting protein 1|lysosomal pepstatin insensitive protease|lysosomal pepstatin-insensitive protease|tripeptidyl aminopeptidase|tripeptidyl-peptidase 1|tripeptidyl-peptidase I protein-coding 734318 TPP2 tripeptidyl peptidase II This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq] 1580863 9974389,19155470,18286573,17901116,17343995,16849449,16762321,16344560,15716107,15489334,12477932,12370345,10691692,8602240,8406500,8396212,7829101,3313395,1840501,1691635,1670990,14702039,19587004,20379614 7174 AL158063,CH471085,AK097678,AK127549,AK304313,AU132468,BC024905,BC039905,BI492495,M55169,M73047,NM_003291 NP_003282,CAH72178,CAH72179,EAX09059,BAH14156,AAH39905,AAA63263,AAA36760,P29144,Q5VZU9 Hs.432424 FLJ40359|TPP-2 TPP-II|tripeptidyl aminopeptidase|tripeptidyl-peptidase 2|tripeptidyl-peptidase II|tripeptidylpeptidase ii protein-coding 1605400 TPPP tubulin polymerization promoting protein 15590652,19382230,18728964,18311157,18204489,18028908,18025801,17823288,17693641,17105200,17027006,16879710,15822905,15564385,15489334,14702039,14623963,12477932,12093283,11781156,10083737,8889548,19698783,20308065,20228799 11076 NM_007030,AC026740,CH471235,AB017016,AI796918,AK054920,AK098392,AW955330,AY319261,BC040496,BC131506,BC152382,BQ066916,BT020035,BU726600,DB478250,DB546894 NP_008961,EAW51015,EAW51016,BAA36164,BAG51443,AAQ96657,AAH40496,AAI31507,AAI52383,AAV38838,O94811,Q4L233 Hs.481466 TPPP/p25|TPPP1|p24|p25|p25alpha 25 kDa brain-specific protein|brain specific protein p25 alpha|glycogen synthase kinase 3 (GSK3) inhibitor p24|p25-alpha|tubulin polymerization-promoting protein protein-coding 1343731 TPPP2 tubulin polymerization-promoting protein family member 2 18029348,17105200,15590652,15489334,12477932 122664 BC027610,BC038970,BC064583,DB458250,NM_173846,AL161668,CH471078,AW135537,AY072034,AY173946 AAO49716,AAH38970,P59282,NP_776245,EAW66421,AAL62338 Hs.406966 C14orf8|P18|p25beta TPPP/p18|brain-specific protein p25-like|protein p25-beta|tubulin polymerization-promoting protein family member 2 protein-coding 1604620 TPPP3 tubulin polymerization-promoting protein family member 3 19165527,17105200,15590652,19633818,17207965,15489334,12477932,12107411,10931946,10810093 51673 NM_015964,NM_016140,AC009061,CH471092,AF078846,AF132972,BC000691,BC037798,BI754230,BI772576,BQ640401,CR590764,CR593543,CR594676,CR612698,CR622352,CR626572 NP_057048,NP_057224,EAW83128,EAW83129,EAW83130,EAW83131,AAD44478,AAD27747,AAH00691,Q9BW30,ADQ33176 Hs.534458 CGI-38|p20|p25gamma TPPP/p20|brain specific protein|tubulin polymerization-promoting protein family member 3 protein-coding 1321699 TPR translocated promoter region (to activated MET oncogene) This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq] 1580863 18981471,7798308,12228227,18663750,17897941,17081983,16964243,15654337,15635413,15302935,15229283,14702039,12802065,12594221,12477932,11952838,11896612,11248057,10708513,9864356,9024684,7851906,3821733,3387099,3277171,1611909,1549355,1532241,1437155,10601273,12513910,17098863,17643375,20237496,20407419,18029348,20936779 7175 AF172081,AF181668,AL133553,AL596220,CH471067,M15326,X94207,X94208,AA688415,AK023111,AK309473,BC016514,BC025177,BC094764,U69668,X63105,X66397,Y00672,NM_003292,NG_023284 NP_003283,CAI17859,CAI13119,EAW91203,EAW91204,EAW91205,EAW91206,CAA63904,AAH16514,AAH25177,AAH94764,AAB48030,CAA44819,CAA47021,CAA68681,P12270,Q15624,Q58F23,Q99968,Q9UE33,AAI56390,Q504U6 Hs.279640 nuclear pore complex-associated protein TPR|nucleoprotein TPR|tumor potentiating region protein-coding 1354338 TPRA1 transmembrane protein, adipocyte asscociated 1 737633,1580863 10342878,16806233,15489334,14702039,12477932,9776767 737633 131601 CR621499,CR623083,NM_016372,NM_001142646,NM_001136053,AC084035,CH471052,AB037108,AF289568,AI248453,AK056759,BC017058,BC050711,BG168441,BI823558,CD580484,CR593977,CR599731,CR606702,CR612256,CR614598,CR617620,CR617714,CR618881 Q86W33,NP_057456,NP_001136118,NP_001129525,EAW79340,EAW79341,EAW79342,EAW79343,EAW79344,BAA89782,AAL55752,AAH17058,AAH50711 Hs.6418 FLJ32197|GPR175|TMEM227|TPRA40 G protein-coupled receptor 175|OTTHUMP00000216056|OTTHUMP00000216057|OTTHUMP00000216061|OTTHUMP00000216062|integral membrane protein GPR175|seven transmembrane domain orphan receptor|transmembrane domain protein regulated in adipocytes 40 kDa|transmembrane protein 227|transmembrane protein adipocyte-associated 1|transmembrane protein, adipocyte associated 1 protein-coding 1605237 TPRG1 tumor protein p63 regulated 1 19475631,15489334,14702039,12477932 285386 NM_198485,AC104669,AC112909,AK123232,AK125682,BC101550,BC101552,CR737485 NP_940887,BAC85565,BAC86245,AAI01551,AAI01553,Q6ZUI0 Hs.338851 FAM79B|FLJ41238|FLJ43694|MGC126599|MGC126601 OTTHUMP00000209774|family with sequence similarity 79, member B|tumor protein p63-regulated gene 1 protein protein-coding 1601827 TPRG1L tumor protein p63 regulated 1-like 17869247,16710414,15489334,14702039,12477932 127262 NM_182752,AL513320,CH471130,AK025409,AK025464,AK096427,AK289919,AK298343,BC019034,BI547609,BX115868,CR617441 NP_877429,CAI14338,CAI14339,EAW71455,EAW71456,BAF82608,BAG60590,AAH19034,Q5T0D9 Hs.20529 FAM79A|FLJ21811|RP11-46F15.3|h-mover|mover family with sequence similarity 79, member A|mossy fiber terminal-associated vertebrate-specific presynaptic protein|tumor protein p63-regulated gene 1-like protein protein-coding 1603050 TPRKB TP53RK binding protein 20383145,16344560,14702039,12477932,10810093,16189514,12659830 51002 NM_016058,AC092653,CH471053,AF060921,AF151879,AI759966,AK097254,AK291071,AK295239,AY157986,AY157987,AY643713,BC029492,DA688967 NP_057142,EAW99720,EAW99721,EAW99722,EAW99723,AAG43133,AAD34116,BAF83760,BAG58232,AAN76356,AAN76357,AAT64915,AAH29492,Q9Y3C4 Hs.157401 CGI-121 PRPK (p53-related protein kinase)-binding protein|PRPK-binding protein|TP53RK-binding protein protein-coding 1604487 TPRX1 tetra-peptide repeat homeobox 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq] 17005330,14702039,12477932 284355 NM_198479,AC008745,CH471126,AK097640,BC137501,BC141863,BC144673,DQ340180 NP_940881,EAW57514,BAC05130,AAI37502,AAI41864,AAI44674,Q8N7U7,ABC69291 Hs.629812 FLJ40321|TPRX CRX like homeobox 2|tetra-peptide repeat homeobox protein 1 protein-coding 1605470 TPRX1P1 tetra-peptide repeat homeobox 1 pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq] 503628 NG_004836,AL133481 TPRXP2 pseudo 1605469 TPRX1P2 tetra-peptide repeat homeobox 1 pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq] 503629 NG_004837,AC068139,AL133481 TPRXP3 pseudo 1605471 TPRX2P tetra-peptide repeat homeobox 2 pseudogene Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq] 503627 NG_004835,AC008745,AC024582 TPRX2P1|TPRXP1 pseudo 1605803 TPRXL tetra-peptide repeat homeobox-like Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq] 16344560,14702039,12477932 348825 NR_002223,AC069462,AC090004,AK092426,BC016304,BC027729,BC117319,CR613670,DA837466 BAC03887,Q17RH7 Hs.529180,Hs.638296 FLJ35107 pseudo 735970 TPS1 mast cell protease 6 7176 NM_003293,BC028059,BC051852,M30038 Hs.405479 1605426 TPSAB1 tryptase alpha/beta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq] 17474147,2187193,2677049,19250736,19100407,18854315,18790994,18359288,18079491,17655281,17635650,17449330,17205215,17146627,16517749,16414069,16027150,15638376,15567416,12874242,12742661,12477932,12397176,12391231,12217407,12100045,11906611,11876641,11792624,11568008,20087660,11325588,11157797,10898108,10843716,10708866,10708850,10514402,10500112,10391906,9920877,9521329,9485375,9300715,9077541,8675637,8598474,8434231,7730649,7009736,3161948,2203827,11533057,19535787,19625657,19697770,19748655 7177 NM_003294,NG_005083,AC120498,AE006466,AF098328,AF099144,M33494,AF206665,AF206666,AF206667,BC028059,BC051852,BC074975,CR541836,M30038,M33491,BC074974,BC038416,FJ931118 NP_003285,AAK61271,AAD17846,AAD17860,AAC83172,AAG35695,AAG35696,AAG35697,AAH28059,AAH51852,AAH74975,CAG46635,AAA86934,AAA36778,Q15661,Q6B051,Q6FHB8,Q86TM8,Q86UA5,Q96RZ6,AAH74974,ACZ98912 Hs.405479 MGC104064|TPS1|TPS2|TPSB1 OTTHUMP00000213242|mast cell alpha II tryptase|mast cell beta I tryptase|tryptase I|tryptase alpha II|tryptase alpha-1|tryptase alpha/beta-1|tryptase beta 1|tryptase beta I|tryptase beta-1|tryptase-1|tryptase-I|tryptase-III protein-coding 1348891 TPSB2 tryptase beta 2 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq] 1580863 10500112,10391906,9521329,2203827,2187193,17474147,9920877,17449330,15567416,15489334,12477932,12217407,11157797,10898108,10843716,10708850,8434231,19748655 64499 NM_024164,NG_005083,AC120498,AE006466,AF099143,AF099145,AF099146,AK308208,BC029356,BC065923,M33492,M33493,M37488,S55551,FJ931120 NP_077078,AAK61270,AAD17859,AAD17857,AAD17858,AAH29356,AAH65923,AAA36779,AAA36780,AAA51843,AAD13876,P20231,Q6NZY1,Q96RZ7,ACZ98913 Hs.405479,Hs.592982 TPS2|tryptaseB|tryptaseC OTTHUMP00000208944|mast cell tryptase beta II|mast cell tryptase beta III|tryptase II|tryptase III|tryptase beta II|tryptase beta III|tryptase beta-2|tryptase-2 protein-coding 1314139 TPSD1 tryptase delta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq] 1580863 18854315,16751005,12477932,12391231,12217407,12100045,11174199,11157797,9920877 23430 NG_005083,AC120498,AE006466,AF098327,AF099147,AF318074,CH471112,AF206664,AF421357,AY055427,BC069143,NM_012217 NP_036349,AAK61272,AAD17845,AAD17861,AAK12909,EAW85680,EAW85681,AAG35694,AAL86695,AAL17874,AAH69143,Q9BZJ3 Hs.677789 MCP7-LIKE|MCP7L1|MGC95428|MMCP-7L OTTHUMP00000158675|delta-tryptase|hmMCP-3-like tryptase III|hmMCP-7-like|mMCP-7-like delta II tryptase|mMCP-7-like-1|mMCP-7-like-2|mast cell mMCP-7-like|mast cell protease 7-like|mast cell tryptase|tryptase delta|tryptase-3 protein-coding 1344751 TPSG1 tryptase gamma 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq] 1302295,1580863 10521469,12217407,12194977,11157797,10843716,20126998 1302295 25823 NM_012467,NG_005083,AC120498,AE006466,AF175759,AF191031,AF195508,AF223563,CH471112,BE552396 NP_036599,AAK61269,AAF03697,AAF76457,AAF76458,AAG48852,EAW85682,Q9NRR2,AAI72313 Hs.592076 PRSS31|TMT|trpA gamma I|gamma II|lung tryptase|mast cell protease II|mast cell tryptase|pituitary tryptase|serine protease 31|skin tryptase|transmembrane tryptase|tryptase gamma|tryptase gamma I|tryptase gamma II protein-coding 1353104 TPSP1 tryptase pseudogene 1 12217407,10843716 100129339 NG_008445,AC120498 MP-2 pseudo 1345938 TPSP2 tryptase pseudogene 2 64494 AB038652 1353746 TPSP3 tryptase pseudogene 3 64495 1318261 TPST1 tyrosylprotein sulfotransferase 1 1580863 7721887,9733778,9501187,19343046,18672380,16859706,16344560,15489334,12853948,12690205,12477932,12169668,12056800,12032733,10497246,10089882,15060624,16244708,17558413,20379614 8460 NM_003596,AC008267,AC026281,AC079855,CH236961,CH471140,AF038009,AI221558,AK307053,AK313098,BC013188,CR542060,CR542080,CR592994,CR610958,CR611624,CR618726,CR626238,DB212291 NP_003587,AAS02012,AAS07522,EAL23739,EAX07937,EAX07938,AAC13552,BAG35922,AAH13188,CAG46857,CAG46877,O60507,Q75M96,Q75ML6,ABM84489,ABM85174 Hs.727601 TPST-1|protein-tyrosine sulfotransferase 1|tyrosylprotein sulfotransferase-1 protein-coding 1313297 TPST2 tyrosylprotein sulfotransferase 2 The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 9736702,9733778,11256614,19343046,18672380,16303743,15489334,15461802,12477932,12169668,12056800,11230166,10591208,10497246,10089882,17558413,20460947 8459 BC017509,CR456597,CR533528,CR590775,CR593537,CR595650,CR595659,CR595821,CR596364,CR596688,CR604203,CR604977,CR606597,CR609089,CR610140,CR610531,CR619205,CR626027,CR626067,CR626262,BC001057,NM_001008566,CH471095,CQ782485,CQ783200,Z95115,AA531491,AF049891,AF061254,AJ006198,AK074538,AK075139,AK304545,AL136623,AL708491,NM_003595,HI573878,HI573880 AAH01057,AAH17509,CAG30483,CAG38559,O60704,NP_003586,NP_001008566,EAW59726,EAW59727,EAW59728,CAF85772,CAF86406,CAB62950,AAC36061,AAC34296,CAA06906,BAG51969,BAG52071,BAH14212,CAB66558,CBX47428,CBX47429,CAK54628,CAK54927,ABM84526 Hs.726122 OTTHUMP00000198867|TPST-2|protein-tyrosine sulfotransferase 2|tyrosylprotein phosphotransferase 2|tyrosylprotein sulfotransferase-2 protein-coding 735250 TPT1 tumor protein, translationally-controlled 1 1580863 12948934,12876410,12487227,12477932,12399545,12167714,12149273,11991642,11790298,11598139,11368327,10343127,9150946,9059837,7542803,2813067,1286669,1286667,14499622,15870695,15162379,15958728,17353931,18504434,16130169,15319436,19523440,19360337,18676370,18345488,18325344,18274553,18042794,17897616,17645945,17549383,16859841,15489334,15383549,15262975,15062873,15057823,14623968,14500674,16548883,16730713,19271148,19484128,19570981,19605695,19621893,19815065,20237496,20098747 7178 NM_003295,AJ400717,AL138963,CH471075,AK130847,AK296587,AK296952,AK312951,AY117678,AY334563,BC003352,BC012431,BC040008,BC052333,CR457036,CR590628,CR591807,CR596782,CR600220,CR603315,CR606684,CR607344,CR609479,CR615436,CR617312,CR618209,CR619808,CR620037,CR623434,CR624492,CR624864,CR626086,CR626131,L13806,X16064,BC022436,X64899,BC007842 NP_003286,CAB87812,CAH72033,CAH72034,CAH72035,EAX08731,EAX08732,EAX08733,EAX08734,EAX08735,BAG59206,BAG59498,BAG35792,AAM51565,AAQ01550,AAH03352,AAH12431,AAH22436,AAH40008,AAH52333,CAG33317,CAA34200,P13693,Q5W0H4,Q86YH5,Q8TBK7 Hs.374596 FLJ27337|HRF|TCTP|p02 OTTHUMP00000018345|OTTHUMP00000018346|fortilin|histamine-releasing factor|p23|translationally-controlled tumor protein protein-coding 1348535 TPT1P tumor protein, translationally-controlled 1 pseudogene 100131268,378809 AP000466,NG_021999 TPT1P pseudo 1347469 TPTE transmembrane phosphatase with tensin homology 1580863 10598804,18074101,15489334,14659893,12477932,11810268,11279206,11030409,10830953,9693027 7179 HC044491,NM_199260,NM_199259,NM_199261,AF254982,AF254983,AL078471,AL163201,AF007118,AF495908,AI149736,AI200912,AK308254,AK314285,AL833345,AY219886,AY219887,AY219888,BC028719,DB459772 CBH30575,NP_954869,NP_954868,NP_954870,CAB90528,AAC34574,AAQ06674,BAG36944,AAP45143,AAP45144,AAP45145,AAH28719,P56180,ABM82137,ABM85320 Hs.122986 CT44|PTEN2 PTEN-related tyrosine phosphatase|cancer/testis antigen 44|putative tyrosine-protein phosphatase TPTE|tensin, putative protein-tyrosine phosphatase|tumor antigen BJ-HCC-5 protein-coding 1314090 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM] 15057823,14659893,12717346,12477932,11716755,11329013,20379614 93492 NM_130785,NM_199254,NM_001141968,AL359457,AL590076,CH471075,AJ421032,AJ421033,AK301741,AL079582,AY219890,BC128146,BC128147,BG200515,FJ969729 NP_570141,NP_954863,NP_001135440,CAH73538,CAH73539,EAX08219,EAX08220,EAX08221,EAX08222,EAX08223,EAX08224,EAX08225,CAD13144,CAD13145,BAG63204,AAP45146,AAI28147,AAI28148,Q6XPS3,ACT21090 Hs.377488 MGC149231|TPIP OTTHUMP00000018072|OTTHUMP00000176861|PTEN-like inositol lipid phosphatase|TPIP lipid phosphatase|TPTE and PTEN homologous inositol lipid phosphatase|lipid phosphatase TPIP|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase TPTE2 protein-coding 3029031 TPTE2P1 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 14702039 646405 AK094224,AL354798,NR_026730 BAG52846 Hs.620592 pseudo 3436509 TPTE2P2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 2 12477932 644623 NR_033775,AL158066,AL683825,BC041842,BX088550 Hs.678973 DKFZp434F1622 pseudo 2860648 TPTE2P3 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 11810268,12477932,14702039 220115 AL137058,BC041889,NR_002793 Hs.528448 DKFZp434F1622|TPTEps1 pseudo 2881921 TPTE2P4 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 4 12815422 286573 AC013734,AC019099,NG_002820 TPTEP pseudo 1323589 TPX2 TPX2, microtubule-associated, homolog (Xenopus laevis) 1580863 10512675,14580337,17474147,9207457,18029348,14718566,19424574,19208764,19148505,18663142,17716627,17705509,17081983,16964243,16565220,16489064,16287863,15705883,15489334,15302935,12477932,12477396,12389033,12177045,12097419,11780052,10871281,10393424,14702039,12612055,11256614,18662907,19773279,19801554,20508983,16341674,18773538,20599806 22974 NM_012112,AL160175,CH471077,AB024704,AB027467,AF098158,AF146731,AF244547,AF287265,AK001391,AK093379,AK312549,AL117534,AY734680,BC004136,BC011357,BC020207,BM835456,BU181208,CB960160,CR597329,CR604176,CR626707,CR593407 NP_036244,CAD38006,CAD38007,EAW76418,EAW76419,EAW76420,EAW76421,EAW76422,BAA76931,BAA85893,AAF03248,AAD33965,AAF81695,AAK83033,BAG50902,BAG35446,CAB55982,AAU29203,AAH04136,AAH11357,AAH20207,Q643R0,Q96FC3,Q96RR5,Q9ULW0 Hs.708960 C20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100 TPX2, microtubule-associated protein homolog|differentially expressed in cancerous and non-cancerous lung cells 2|differentially expressed in lung cells|hepatocellular carcinoma-associated antigen 519|preferentially expressed in colorectal cancer|protein fls353|restricted expression proliferation associated protein 100|restricted expression proliferation-associated protein 100|targeting protein for Xklp2|tpx2, microtubule-associated protein homolog (xenopus laevis) protein-coding 1603645 TRA2A transformer 2 alpha homolog (Drosophila) This gene is a member of the transformer 2 homolog family and encodes a protein with two RS domains and an RRM (RNA recognition motif) domain. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Several alternatively spliced transcript variants of this gene have been described; however, the full-length nature of some of these variants has not been determined. [provided by RefSeq] 9546399,17081983,16964243,16097034,15489334,15324660,14765198,12761501,12477932,9847074,8799144 29896 AK298815,AK300565,AK300741,AK310719,AK311687,AK314801,BC017094,BC069011,CR616661,DB445598,U53209,NM_013293,AC023105,CH236948,CH471073,AB052759,AB097048 BAC77401,BAG60948,BAG62271,BAG62410,BAG37329,AAH17094,AAC50658,Q13595,Q549U1,Q8IXF7,ABM83368,ABM86579,NP_037425,AAQ96870,EAW93788,EAW93789,BAC53792 Hs.445652 HSU53209 TRA-2 alpha|TRA2-alpha|Tra2alpha|htra-2 alpha|htra-2-alpha|putative MAPK activating protein PM24|transformer-2 alpha|transformer-2 protein homolog A|transformer-2 protein homolog alpha protein-coding 732515 TRA2B transformer 2 beta homolog (Drosophila) 9546399,15169763,19079260,19037821,17081983,16964243,16344560,15782174,15635413,15489334,15324660,15302935,14765198,14729963,14702039,14559993,14520560,12798777,12649279,12604596,12531473,12477932,12165565,11875052,11153908,10749975,10713112,10339552,9790768,9473574,9212162,8617505,7499316,9671816,11448987,17353931,19759913,20816195,16169070,17577209,20074680,21102462 6434 NM_004593,AC009247,AF057159,CH471052,AB209208,AK091863,AK094495,AK098191,AK125610,AK301118,AK308267,AK315632,BC000160,BC000451,BC005898,CR590258,CR603112,CR608950,CR749214,DA164444,U61267,U68063,U87836 P62995,Q59GA1,Q68DZ9,Q8N1H4,ABM81863,ABW03333,AAB69763,NP_004584,AAD19277,AAD19278,AAD19279,EAW78204,EAW78205,EAW78206,EAW78207,EAW78208,BAD92445,BAC05256,BAG62714,BAG38000,AAH00160,AAH00451,AAH05898,CAH18071,AAC28242,AAB08701 Hs.533122 DKFZp686F18120|Htra2-beta|SFRS10|SRFS10|TRA2-BETA|TRAN2B OTTHUMP00000210275|TRA-2 beta|splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)|transformer 2 homolog|transformer-2 protein homolog B|transformer-2 protein homolog beta|transformer-2-beta protein-coding 1353259 TRA@ T cell receptor alpha locus 20519503,20553737,20711174,12429093,11048639,11827988,15489916,17652306,19470682,19056690,18611445,18523287,18378792,17785774,17391765,17082594,17023417,17015149,16968899,16548914,16424183,16310048,15494509,15128794,12925207,12796775,12477932,12473666,12444131,12039522,11920559,11142503,9110172,8188290,6440030,3875483,3875152,3873654,1303175,18314878,11877480,9586631,20713881,18927318,19412176,19675167,19756574,19927159,20035823,20042572,20145049,20208138,20677014,20496992,20681514 6955 NG_001332,AE000521,AE000659,AE000662 AAB68997,AAB68998,AAB68999,AAB69000,AAB69001 FLJ22602|MGC117436|MGC22624|MGC23964|MGC71411|TCRA|TCRD|TRA T cell receptor alpha locus|T-cell antigen receptor, alpha polypeptide|T-cell receptor, alpha (V,D,J,C) 2315792 GLUCO171_H protein-coding 1601961 TRABD TraB domain containing 15489334,14702039,12529303,12477932,11214971,10591208,20562859 80305 NM_025204,AL022328,CH471138,DQ529300,AF218001,AK024447,AK292050,AL449244,AY203945,BC012445,BC093029,CR590805,CR595125,CR595379,CR602777,CR607528,CR612180,CR612210,CR615428,CR615590,CR620455,CR624670,CR626213 NP_079480,EAW73497,EAW73498,EAW73499,EAW73500,EAW73501,EAW73502,ABF71986,AAG17243,BAB15737,BAF84739,CAC15001,AAP34468,AAH12445,AAH93029,Q6XYC5,Q9H4I3,Q9HBQ3 Hs.517731 LP6054|MGC110928|PP2447 OTTHUMP00000196714|traB domain-containing protein protein-coding 1349761 TRAC T cell receptor alpha constant 28755 X02592 1350695 TRADD TNFRSF1A-associated via death domain The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq] 2292150,1580863 15103018,12107169,18939944,9915703,9082980,14743216,11479302,9020361,9560245,12796506,11226577,11112409,15247912,1040062,11934887,17540176,19453261,19573080,19773279,19854717,8621670,7758105,11684708,14644197,12761501,12887920,19336370,19151112,18990758,18661484,18198944,18174230,17922260,17235653,17051333,16611992,16344560,16227624,16006552,15761471,15489334,15310755,14702039,14585990,12911633,12665801,12604596,12576460,12477932,12446787,12417987,12045187,11435712,11112773,11032752,10911999,10892748,10848577,10400625,10356400,10187805,9916988,9916731,9714541,9430227,9427646,14660619,9356494,8943045,8934525,8702708,8681376,8612133,8565075,20568250,21068102 2292150 8717 HD119556,NM_003789,AC074143,AJ307882,AJ311614,AJ311615,AJ311616,AY575851,AY995114,CH471092,AK090673,AK301593,AK315654,BC004491,BG717460,BQ707739,BT006934,CA426418,DA353575,L41690 CBW52910,NP_003780,CAC38018,AAS68637,AAX89407,EAW83081,BAG52211,BAG63082,BAG38020,AAH04491,AAP35580,AAA98482,Q15628,ABM84345,ABM87737 Hs.460996 Hs.89862|MGC11078 TNFR1-associated death domain protein|tumor necrosis factor receptor type 1 associated death domain protein|tumor necrosis factor receptor type 1-associated DEATH domain protein|tumor necrosis factor receptor-1-associated protein protein-coding 1351243 TRAF1 TNF receptor-associated factor 1 The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. [provided by RefSeq] 1580863 9162022,10809768,8069916,19565500,19453261,19433411,19416238,19401279,19336421,19336370,19287455,19180477,19116907,19110536,19023125,18759306,18625278,18593758,18576341,18434327,18432273,18429822,17880261,17827388,17804836,17405906,17235653,16891304,16713569,16304992,15941918,15489334,14981539,14743216,14557256,12709429,12477932,12411322,12089335,11907583,11804591,11728344,11696595,11607847,11384837,11313261,11279055,11278268,11181075,11098060,11035039,10903733,10635328,10411888,10037686,10025951,9852070,9774460,9718306,9705938,9642260,9607925,9488716,9464265,9418902,9384571,9300817,9208847,9168896,9104814,8943045,8710854,8702708,8692885,8627180,8612133,8565075,7859281,7527023,9928991,10837247,10514511,9794406,12887920,9774977,8662842,9275204,10692572,12529173,15084608,16323247,18794853,19503088,19540595,19617629,19641626,19674979,19698991,19714643,19741008,19902201,19918040,20030635,20049410,20056178,20205706,20219786,20233754,20237496,20353580,20385093,20439292,20444755,20479942,20498205,20413583,17207965,20453842,20797713,20800603,20822712,20962850,20973039,21048031,19913121,20628086 7185 NM_005658,AC006430,CH471090,AK090468,AK295959,AK315476,AL832989,AW014547,BC024145,BT019408,U19261,HI574112,NG_023346,NM_001190945,NM_001190947 NP_005649,EAW87479,BAC03449,BAG58739,BAG37860,CAH56343,AAH24145,AAV38215,AAA62309,Q13077,CBX47545,NP_001177874,NP_001177876,ADQ32235 Hs.531251 EBI6|MGC:10353 Epstein-Bar virus-induced protein 6|TNF receptor-associated factor 1|epstein-Barr virus-induced protein 6 protein-coding 1321367 TRAF2 TNF receptor-associated factor 2 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq] 1580863,2292150,2296020 11466612,11777919,8702708,15125833,14644197,7758105,12887920,19573080,19527514,19453261,19336370,19243308,19234489,19151112,19150425,19019335,18990758,18981220,18827186,18818748,18787502,18671942,18362156,18312353,18292192,18230756,18069092,17724081,17626074,17599408,17389591,17379600,16936264,16891304,16713569,16636664,16446357,16311516,16304992,16282325,16260598,16227629,16214042,16189514,16153868,16009713,10581243,10523862,10521462,10514511,10490605,10477597,10463949,10411888,10346818,10339433,10206649,10037686,10025951,9852070,9827693,9774977,9774460,9733516,9718306,9712898,9705938,9692890,9607925,9582383,9500555,9488716,9464265,9461607,9418902,9384571,9373149,9353251,9208847,9168896,9162022,9153189,9104814,9020361,8999898,8985011,8875942,8710854,8692885,8643514,8627180,8612133,8565075,8125298,8069916,7639698,17923499,10882101,18950704,9244310,8943045,10759890,11479302,10911999,11057907,9990007,10075662,9685412,9794406,17015619,15743837,15708970,15944293,15670977,15489334,15383523,15310755,15308666,15265700,15208311,14743216,14741690,14702039,14633987,14585990,14557256,12917691,12843613,12842894,12591926,12571250,12547194,12477932,12411493,12411322,12169272,12136106,11971184,11932422,11907583,11907088,11882293,11805080,11804591,11798190,11784851,11728344,11607847,11435475,11384837,11359906,11340079,11279055,11278723,11278268,11112773,11064452,11035039,10990461,10903733,10892748,10880535,10809768,10764746,10753917,10650002,10617615,15861135,11821416,12796506,9275204,8662842,15696169,10352240,15258597,10837247,20568250,20585848,16263936,20562859,20447407,12296995,16378096,19690440,20577214,12529173,15084608,16291755,16876162,18024283,18029348,19667091,19773279,19810754,20047764,20056178,20064526,20133937,20237496,20333651,20385093,20449947,16341674,21071692,20628086 2292150,2296020 7186 AK054686,AK222961,AK289722,AK294607,AK298370,BC032410,BC033810,BC043492,BC064662,BM785733,BX538160,CR611225,CR624454,NM_021138,AL355987,AL449425,AY623660,CH471090,HM991672 EAW88300,EAW88301,EAW88302,EAW88303,EAW88304,EAW88305,BAB70792,BAF82411,BAG57794,BAG60609,AAH32410,AAH33810,AAH43492,AAH64662,CAD98040,Q12933,ABM84542,ABM85690,ACE87382,ACE87402,ACE86698,ACE86716,NP_066961,CAI12701,CAI12702,CAI12703,CAI12704,CAI12705,CAI15103,CAI15104,CAI15105,CAI15106,AAT27320,EAW88299,ADQ89802 Hs.522506 MGC:45012|TRAP|TRAP3 E3 ubiquitin-protein ligase TRAF2|TNF receptor-associated factor 2|tumor necrosis factor type 2 receptor associated protein 3|tumor necrosis factor type 2 receptor-associated protein 3 protein-coding 1312182 TRAF3 TNF receptor-associated factor 3 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq] 7527023,9162022,10791955,11035039,12005438,15280356,7530216,7533327,10799510,19074885,19023125,18614628,18607851,18275617,18042799,17692805,17626074,17608743,17586463,16858409,16582590,16429118,16311516,16306936,16280329,16009714,15708970,15585864,15514968,15489334,15383523,15208311,15084608,14743216,14716302,14572659,14517219,12860972,12571250,12477932,12471121,12270937,12220533,12169272,12136149,12089335,11950878,11728344,11607847,11562359,11384837,11279055,11278268,11261798,10984535,10903733,10862698,10809768,10781837,10764746,10644711,10635328,10557073,10523862,10199393,10037686,10025951,9852070,9794406,9774977,9774460,9718306,9582383,9550380,9488716,9464265,9418902,9388227,9168896,9122217,8710854,8663299,8626767,8612133,8565075,7859281,10207006,9990007,9384571,10837247,10514511,11098060,8662842,10352240,20504251,20832341,20585848,20800603,9275204,17823124,17991829,19419966,19667091,19693093,19893624,19996094,20008286,20056178,20097753,20138174,20185819,20237496,20348096,21084666,21041727,19913121,20628086 7187 NM_145725,NM_145726,NM_003300,AL117209,AL132801,CH471061,AF110908,AK303172,BC075086,BC075087,BX247977,L38509,U15637,U19260,U21092,BQ000015,NG_027973,NM_001199427 NP_663777,NP_663778,NP_003291,EAW81795,EAW81796,EAW81797,AAD29276,BAH13910,AAH75086,AAH75087,CAD62311,AAA68195,AAA56753,AAA65732,AAC50112,Q13114,NP_001186356 Hs.510528 CAP-1|CD40bp|CRAF1|LAP1 CD40 associated protein 1|CD40 binding protein|CD40 receptor associated factor 1|CD40 receptor-associated factor 1|CD40-binding protein|LMP1 associated protein|LMP1-associated protein 1|TNF receptor-associated factor 3 protein-coding 1319493 TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1 1580863 12935900,12812986,12477932,10791955,20391533,17643375,19898482,20379614,19251251,17043677 26146 NM_015650,NM_001139490,AC012485,CH471063,AF230877,AF242456,AI356967,AL080153,BC059174,BX482493 NP_056465,NP_001132962,AAX88977,EAW71156,EAW71157,AAF76984,AAL90444,CAB45744,AAH59174,Q8TDR0 Hs.631898 DKFZp434F124|MIP-T3|MIPT3 TRAF3-interacting protein 1|interleukin 13 receptor alpha 1-binding protein-1|interleukin-13 receptor alpha 1-binding protein 1|microtubule interacting protein that associates with TRAF3|microtubule-interacting protein associated with TRAF3|microtubule-interacting protein that associates with TRAF3 protein-coding 1312403 TRAF3IP2 TRAF3 interacting protein 2 This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Two alternative transcripts encoding different proteins have been identified. A third transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq] 10962033,12761501,18061473,17982039,16189514,15489334,14702039,14574404,12943667,12477932,12459498,12163033,12089335,10962024,10903453,12133833,20953186,20953190,20953188,17213182,19825828,20543113 10758 NM_147686,AL008730,CH471051,CS135278,Z97989,AF085921,AF136405,AF136406,AF136407,AF272151,AF274303,AK025351,AK026602,AK310141,AK310922,AK314415,AL050289,BC002823,BC026723,BE904103,CR611078,CR615860,BM449775,CB049654,DC348710,DT217829,NM_001164281,NM_001164282,NM_001164283,NR_028338 NP_679211,CAA15506,CAA15507,CAD92596,CAD92597,CAD92598,EAW48285,EAW48286,EAW48287,EAW48288,CAJ21527,CAI22296,CAI22297,CAI22298,AAF67445,AAF67446,AAF67447,AAG15407,AAG15367,BAB15117,BAB15507,BAG37036,CAB43390,AAH02823,O43734,Q7Z6Q1,Q7Z6Q2,NP_001157753,NP_001157754,NP_001157755 Hs.561514 ACT1|C6orf2|C6orf4|C6orf5|C6orf6|CIKS|DKFZp586G0522|MGC3581 NFkB-activating protein ACT1|TRAF3-interacting protein 2|adapter protein CIKS|connection to IKK and SAPK/JNK|nuclear factor NF-kappa-B activator 1 protein-coding 1604284 TRAF3IP3 TRAF3 interacting protein 3 17868742,17277885,17203973,16710414,15489334,14702039,14572659,12477932,9373149,8125298,18782753,20379614 80342 NM_025228,AL022398,CH471100,AK092905,AK122792,AK125601,AK126139,AK225762,AK300555,AK312755,AL049667,BC110302,BC130417,BC144139,BX648450,CR603000,CR609673,CA436636,CB053101 NP_079504,CAI95687,CAI95688,CAI95689,EAW93441,EAW93442,EAW93443,EAW93444,BAG54221,BAG62261,CAB41242,AAI10303,AAI30418,AAI44140,Q9Y228 Hs.147434 DJ434O14.3|FLJ44151|MGC117354|MGC163289|T3JAM OTTHUMP00000038604|OTTHUMP00000216869|TRAF3 interacting Jun N terminal kinase (JNK) activating modulator|TRAF3-interacting JNK-activating modulator|TRAF3-interacting protein 3 protein-coding 1315478 TRAF4 TNF receptor-associated factor 4 This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq] 1580863 7592751,18953416,18593758,18087216,16799635,16157600,16052631,15941918,15489334,12801526,12788948,12477932,12354113,12023963,11943846,11607847,11384837,11279055,10514511,9626059,9507120,7490069,19937093,15231748,17927880,20056178,20237496 9618 AC010761,CH471159,DQ323999,AF082185,AK300804,AY937222,AY937223,AY937224,BC001769,NM_004295,BC026726,BC047358,CR590816,CR602462,CR611319,CR616018,CR990949,X80200 NP_004286,EAW51138,EAW51139,EAW51140,EAW51141,EAW51142,ABC40750,AAC32376,BAG62461,AAY16988,AAY16989,AAY16990,AAH01769,CAA56491,Q2KJU5,Q2KJU6,Q9BUZ4,ABM83751,ABM87070 Hs.8375 CART1|MLN62|RNF83 MLN 62|RING finger protein 83|TNF receptor-associated factor 4|cysteine-rich domain associated with RING and Traf domains protein 1|cysteine-rich domain associated with ring and TRAF domain|malignant 62|metastatic lymph node gene 62 protein|tumor necrosis receptor-associated factor 4A protein-coding 1605425 TRAF5 TNF receptor-associated factor 5 The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 9153189,10075662,10809768,12761501,9511754,18029348,19573080,18990758,17277003,16344560,15708970,15489334,14702039,12842894,12477932,12169272,12089335,12000717,11971184,11882293,11607847,11562359,11479302,11384837,11279055,11035039,10908663,10880535,10764746,10523862,10449775,10025951,9990007,9774977,9774460,9718306,9642260,9582383,9488716,9275204,9177772,9162022,9126477,8999898,8889548,8790348,8663299,15749123,9852070,9685412,10514511,12296995,12529173,19773279,20056178,20237496,20331378,20161788,20568250,21048031 7188 NM_004619,NM_001033910,NM_145759,AL590101,CH471100,AB000509,AK126502,AK295766,AK303286,BC029600,BC032830,BM453281,BU676629,CD709275,CR536557,DB218840,DB290838,U69108 NP_004610,NP_001029082,NP_665702,CAH72434,EAW93419,EAW93420,EAW93421,EAW93422,BAA25262,BAG54338,BAG58591,BAG64364,AAH29600,CAG38794,AAC51329,O00463,Q6FHY1,ACT64504,ACT64505 Hs.523930 MGC:39780|RNF84 RING finger protein 84|TNF receptor-associated factor 5 protein-coding 1315706 TRAF6 TNF receptor-associated factor 6 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein mediates the signaling not only from the members of the TNF receptor superfamily, but also from the members of the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. Two alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq] 1580863 17905570,17878161,17724081,17608743,17572386,17377523,17363736,17346928,17135271,16932746,16920630,16635910,16527194,16517750,16484229,16452479,16446357,16436380,16354686,16313339,16286016,16280329,16260598,16251197,16230348,16221674,16196101,16189514,16184196,16153868,16125763,16079148,16052631,15670770,15665823,15634933,15591054,15492226,15489334,15456887,15361868,15308666,15280356,15247281,14996708,14754897,14743216,14665433,14661019,14633987,14593105,14550571,14530355,14500659,12925853,12917691,12874243,12804775,12721283,12714497,12566447,12496252,12477932,12459498,12270937,12193732,12140561,12060722,12048196,11960013,18029348,20568250,20813000,20973039,21048031,20542134,21078302,11244088,11397809,11751921,15125833,12761501,9162092,9744859,10066798,10465784,12138165,12609980,19573080,19453261,19365808,19331827,19254290,19232518,19112497,18996842,18987746,18984593,18922473,18782768,18759459,18758450,18710948,18682563,18617513,18474871,18457658,18411265,18234474,18093978,18070982,18056395,17982039,11518704,10921914,19012753,18950704,18768464,10791955,11544529,9990007,9384571,11809792,9852070,17353931,15894263,15327770,15474016,9275204,11882293,11847341,11607847,11463333,11418661,11406619,11384837,11279055,11278268,11250893,11057907,11035039,10920205,10908663,10882101,10880535,10764746,10748240,10747026,10635328,10523862,10514511,10411888,10383454,10346818,10094049,10075662,10025951,9928991,9915784,9774977,9774460,9685412,9642260,9432981,9374458,9020361,8837778,18724939,18634786,18347055,18299187,18164316,17942533,18326498,18180283,11259596,20512936,12296995,10022904,12787561,12843241,14960584,14982987,15147900,15276183,15721744,16286467,16378096,16382137,16630834,16697380,16874300,16997282,17047224,17124500,17986144,19465916,19549727,19592497,19675569,19713527,19716405,19773279,19786094,19825828,19879840,19898481,19996094,20047764,20056178,20079715,20097753,20237496,20331378,20449947,9252186,9575168,20410276,16252010,20529958,20644648,16543409,20932475,16914100,20634198,21041452,19913121,20588308,20628086,20677014 7189 NM_004620,NM_145803,AC009656,AC061999,AY228337,CH471064,AK292978,BC031052,BI463192,CR590964,CR612801,U78798 NP_004611,NP_665802,AAO38054,EAW68119,EAW68120,EAW68121,EAW68122,BAF85667,AAH31052,AAB38751,Q9Y4K3,ABM82135,ABM85318 Hs.591983 MGC:3310|RNF85 E3 ubiquitin-protein ligase TRAF6|RING finger protein 85|TNF receptor-associated factor 6|interleukin-1 signal transducer protein-coding 1604273 TRAF7 TNF receptor-associated factor 7 Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM] 14743216,15001576,15489334,14702039,12477932,11230166,16230348,20201926,19549727 84231 NM_032271,AC009065,CH471112,AK090624,AL136921,AW245178,AY569455,BC024267,CR595735 NP_115647,EAW85546,EAW85547,EAW85548,EAW85549,BAG52199,CAB66855,AAS68363,Q6Q0C0 Hs.713632 DKFZp586I021|MGC7807|RFWD1|RNF119 E3 ubiquitin-protein ligase TRAF7|RING finger and WD repeat-containing protein 1|RING finger protein 119|ring finger and WD repeat domain 1 protein-coding 1605702 TRAFD1 TRAF-type zinc finger domain containing 1 19862010,15489334,15302935,12477932,8889548,16221674,18849341,17554300,17081983,16964243,16565220 10906 NM_006700,NM_001143906,AC073575,CH471054,AB007447,AK122620,AK291331,AK295474,AK309916,AK312601,BC003553,BG828961,CA314188,CR596482 NP_006691,NP_001137378,EAW97995,EAW97996,EAW97997,BAA22541,BAF84020,BAG58401,AAH03553,O14545,ABM83456,ABM86667 Hs.5148 FLN29 FLN29 gene product|TRAF-type zinc finger domain-containing protein 1 protein-coding 1601884 TRAIP TRAF interacting protein This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq] 17207965,9104814,18200509,15489334,14676304,12477932,9671805,9373149,8125298,19549727,19690564,17474147,19151749,20307617 10293 NM_005879,AC139451,CH471055,AB451320,AB451449,AK225873,AK292172,AK295780,BC000310,BC019283,BQ446539,BX473682,CR623917,U77845 NP_005870,EAW65025,EAW65026,BAG70134,BAG70263,BAF84861,BAG58603,AAH00310,AAH19283,AAB52993,Q9BWF2,ADQ32655 Hs.517972 RNF206|TRIP OTTHUMP00000212709|TRAF-interacting protein|ring finger protein 206 protein-coding 1354300 TRAJ1 T cell receptor alpha joining 1 28754 X02884 1353228 TRAJ10 T cell receptor alpha joining 10 28745 M94081 1346678 TRAJ11 T cell receptor alpha joining 11 28744 M94081 1347755 TRAJ12 T cell receptor alpha joining 12 28743 X02885 1344434 TRAJ13 T cell receptor alpha joining 13 28742 M94081 1354201 TRAJ14 T cell receptor alpha joining 14 28741 M94081 1350739 TRAJ15 T cell receptor alpha joining 15 28740 X05775 1346371 TRAJ16 T cell receptor alpha joining 16 28739 M94081 1343115 TRAJ17 T cell receptor alpha joining 17 28738 X05773 1350626 TRAJ18 T cell receptor alpha joining 18 28737 M94081 1347224 TRAJ19 T cell receptor alpha joining 19 28736 M94081 1349316 TRAJ2 T cell receptor alpha joining 2 28753 X02884 1350798 TRAJ20 T cell receptor alpha joining 20 28735 M94081 1345769 TRAJ21 T cell receptor alpha joining 21 28734 M94081 1345240 TRAJ22 T cell receptor alpha joining 22 28733 X02886 1353812 TRAJ23 T cell receptor alpha joining 23 28732 M94081 1350591 TRAJ24 T cell receptor alpha joining 24 28731 X02887 1346970 TRAJ25 T cell receptor alpha joining 25 28730 X02888 1351831 TRAJ26 T cell receptor alpha joining 26 28729 M94081 1349963 TRAJ27 T cell receptor alpha joining 27 28728 M94081 1348080 TRAJ28 T cell receptor alpha joining 28 28727 M94081 1344801 TRAJ29 T cell receptor alpha joining 29 28726 X02889 1346062 TRAJ3 T cell receptor alpha joining 3 28752 X02884 1352053 TRAJ30 T cell receptor alpha joining 30 28725 M94081 1345027 TRAJ31 T cell receptor alpha joining 31 28724 M14905 1345584 TRAJ32 T cell receptor alpha joining 32 28723 M94081 1348703 TRAJ33 T cell receptor alpha joining 33 28722 M94081 1352292 TRAJ34 T cell receptor alpha joining 34 28721 M35622 1343758 TRAJ35 T cell receptor alpha joining 35 28720 M94081 1344339 TRAJ36 T cell receptor alpha joining 36 28719 M94081 1347585 TRAJ37 T cell receptor alpha joining 37 28718 M94081 1342743 TRAJ38 T cell receptor alpha joining 38 28717 M94081 1347806 TRAJ39 T cell receptor alpha joining 39 28716 M94081 1347112 TRAJ4 T cell receptor alpha joining 4 28751 M94081 1353549 TRAJ40 T cell receptor alpha joining 40 28715 M35620 1350204 TRAJ41 T cell receptor alpha joining 41 28714 M94081 1342480 TRAJ42 T cell receptor alpha joining 42 28713 M94081 1354087 TRAJ43 T cell receptor alpha joining 43 28712 M94081 1349328 TRAJ44 T cell receptor alpha joining 44 28711 M35619 1345906 TRAJ45 T cell receptor alpha joining 45 28710 M94081 1354097 TRAJ46 T cell receptor alpha joining 46 28709 M94081 1343104 TRAJ47 T cell receptor alpha joining 47 28708 M94081 1348135 TRAJ48 T cell receptor alpha joining 48 28707 M94081 1351464 TRAJ49 T cell receptor alpha joining 49 28706 M94081 1352953 TRAJ5 T cell receptor alpha joining 5 28750 M94081 1348307 TRAJ50 T cell receptor alpha joining 50 28705 M94081 1350914 TRAJ51 T cell receptor alpha joining 51 pseudogene 8188290 28704 NG_001332,AE000661,M94081 pseudo 1354445 TRAJ52 T cell receptor alpha joining 52 28703 M94081 1344737 TRAJ53 T cell receptor alpha joining 53 28702 M94081 1345879 TRAJ54 T cell receptor alpha joining 54 28701 M94081 1348545 TRAJ55 T cell receptor alpha joining 55 pseudogene 8188290 28700 NG_001332,AE000661,M94081 pseudo 1352793 TRAJ56 T cell receptor alpha joining 56 28699 M94081 1343823 TRAJ57 T cell receptor alpha joining 57 28698 M94081 1351793 TRAJ58 T cell receptor alpha joining 58 28697 M94081 1348130 TRAJ59 T cell receptor alpha joining 59 28696 M94081 1354023 TRAJ6 T cell receptor alpha joining 6 28749 M16747 1344196 TRAJ60 T cell receptor alpha joining 60 pseudogene 8188290 28695 NG_001332,AE000661,M94081 pseudo 1347382 TRAJ61 T cell receptor alpha joining 61 28694 M94081 1350043 TRAJ7 T cell receptor alpha joining 7 28748 M94081 1346530 TRAJ8 T cell receptor alpha joining 8 28747 M94081 1343301 TRAJ9 T cell receptor alpha joining 9 28746 M94081 1604830 TRAK1 trafficking protein, kinesin binding 1 15644324,18986759,18675823,16630562,16381901,16380713,15851553,15489336,15489334,15231748,14702039,12724313,12477932,12435728,11230166,11076863,10470851,20379614 22906 NM_014965,NM_001042646,AC018358,AC093414,CH471055,AB028965,AK000754,AK023962,AK294221,AK295480,AK295848,AK316260,AL713787,AW157246,BC015922,BF527591,BG285410,BX647199,CD722736,CR594881 NP_055780,NP_001036111,EAW64638,EAW64639,EAW64640,EAW64641,EAW64642,BAA82994,BAH11704,BAH12083,BAH12201,BAH14631,CAH56394,AAH15922,CAH56169,Q659B5,Q9UPV9,CAL37451,CAL38473,ABZ92518 Hs.535711 OIP106 106 kDa O-GlcNAc transferase-interacting protein|OGT(O Glc NAc transferase) interacting protein 106 KDa|OGT(O-Glc-NAc transferase)-interacting protein 106 KDa|OTTHUMP00000162606|OTTHUMP00000209370|trafficking kinesin-binding protein 1 protein-coding 1352646 TRAK2 trafficking protein, kinesin binding 2 1580863 19913121,20628086,15644324,12034717,19103291,16895905,16835241,16630562,16380713,16344560,15489334,14702039,12477932,12435728,12107410,11161814,10964520,9628581 66008 NM_015049,AB038964,AC007256,AC007282,AC080069,CH471063,AB011121,AB038951,AK054763,AK314384,AL832573,BC017999,BC040668,BC041330,BC048093,CA396280,DA314514,DA414989,DA575492 NP_055864,BAB32550,AAY24227,AAX93196,EAW70271,EAW70272,BAA25475,BAB32501,BAB70803,CAD89935,AAH17999,AAH40668,AAH41330,AAH48093,O60296,Q53RS6,Q53TT7,Q86TA0,Q8IU62,ACE87666,ACE86977 Hs.152774 ALS2CR3|CALS-C|GRIF-1|GRIF1|KIAA0549|OIP98 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3|amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein|trafficking kinesin-binding protein 2 protein-coding 1346981 TRAM1 translocation associated membrane protein 1 1580863 20588308,1315419,19121997,19423540,20331378,20406964,20438785,18555783,1315422,17081983,16565220,15489334,12721283,12477932,9512475,12612084 23471 AA740941,BI465346,DB448315,CR608813,AC022731,AC120194,CH471068,AF130055,AF274933,AK289397,AK292777,AK303411,NM_014294,BC000687,BC020283,BC032018,BC037738,BT007359,CR541654,CR541739,CR596669,CR597404,CR601735,X63679 NP_055109,EAW86966,EAW86967,EAW86968,AAG35483,BAF82086,BAF85466,BAG64464,AAH00687,AAH37738,AAP36023,CAG46455,CAG46539,CAA45218,Q15629,Q6FHL3,Q6FHU7,Q9H3B6,ABM83614,ABM86858 Hs.491988 PNAS-8|PNAS8|PRO1292|TRAM|TRAMP translocating chain-associated membrane protein 1|translocating chain-associating membrane protein|translocation-associating membrane protein 1 protein-coding 1314990 TRAM1L1 translocation associated membrane protein 1-like 1 737633,1580863 16344560,16303743,14749390,12477932,19553259,20332099 737633 133022 NM_152402,AC093805,CH471057,AK074617,BC030831,BX423039,CA415689,CR596564,DB099839 NP_689615,EAX06312,BAC11091,AAH30831,Q8N609 Hs.570737 MGC26568 translocating chain-associated membrane protein 1-like 1 protein-coding 1345669 TRAM2 translocation associated membrane protein 2 TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM] 1580863 20379614,9631292,19240061,16344560,15489334,14749390,14612417,14574404,12477932,10594243,8889549,7698749,7584044 9697 NM_012288,AL049611,CH471081,AA044636,AK291751,AK311560,AU140711,BC016804,BC028121,BG323472,BG821383,CF264873,CK000467,D31077,D31762,H59725 NP_036420,CAB71119,EAX04373,EAX04374,EAX04375,BAF84440,AAH28121,BAA06540,Q15035,ABM81994,ABM85176 Hs.520182 KIAA0057 TRAM-like protein|translocating chain-associated membrane protein 2 protein-coding 2937319 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 10737800,14702039,15146197,9205841 9881 AB002340,AC011816,AC097360,AC105749,AK096678,BG750754,BG960452,BQ024165,BX956692,CD698859,CN313593,CN482191,EG328357,EG328358,NM_014831 BAA20800,BAC04838,NP_055646,O15050 Hs.170999 KIAA0342|LBA1 OTTHUMP00000222365|TPR and ankyrin repeat-containing protein 1|lupus brain antigen 1 homolog protein-coding 1346837 TRAP1 TNF receptor-associated protein 1 HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. TRAP1 is a mitochondrial HSP90 protein. Other HSP90 proteins are found in cytosol (see HSP90AA1; MIM 140571) and endoplasmic reticulum (HSP90B1; MIM 191175) (Chen et al., 2005 [PubMed 16269234]).[supplied by OMIM] 1580863 20647321,20877624,7876093,19490362,19217207,18815895,18790094,18287101,18091755,17853063,17579517,16927372,16482509,16269234,15489334,15292218,14702039,12477932,11278302,10652318,10545594,9545258,9373149,8756626,8125298,19019082,12234937,19913121,20471161,20628086,20499060,16551573,19880797,19948822,9312071 10131 AC005203,AC006111,CH471112,AF043254,AF154108,AJ890085,AK057620,AK093344,AK223049,AK223076,AK223205,NM_016292,AK299127,BC000406,BC001455,BC002994,BC018950,BC023585,CR612283,CR623319,DB452880,U12595,AB209805 NP_057376,AAC24722,EAW85338,EAW85339,EAW85340,EAW85341,EAW85342,AAC02679,AAF15314,CAI64498,BAG51942,BAC04139,BAD96769,BAD96796,BAD96925,BAG61180,AAH01455,AAH18950,AAH23585,AAA87704,Q12931,Q53FS6,Q53G55,Q59EK6,Q5CAQ4,Q8N9Z3,Q9BV61,BAD93042,ABM84402,ABM87345 Hs.30345 HSP75|HSP90L HSP 75|TNFR-associated protein 1|TRAP-1|heat shock protein 75 kDa, mitochondrial|tumor necrosis factor type 1 receptor associated protein|tumor necrosis factor type 1 receptor-associated protein protein-coding 1322784 TRAPPC1 trafficking protein particle complex 1 1580863 11805826,10582700,16828797,15489334,12477932,16341674,8889548,15749823 58485 NM_021210,AC104581,AF129332,CH471108,AK314038,BC025413,BC032717,CR609566,CR612174,AW964727,BI457771,BI600633,BM762006,BU687854,BU940685,NM_001166621,NR_030684,NR_030697 NP_067033,AAD44697,EAW90109,EAW90110,EAW90111,BAG36747,AAH32717,Q9Y5R8,ABM81786,ABM84941,NP_001160093 Hs.24379 BET5|MUM2 BET5 homolog|MUM-2|melanoma ubiquitous mutated 2|multiple myeloma protein 2|trafficking protein particle complex subunit 1 protein-coding 1322626 TRAPPC10 trafficking protein particle complex 10 The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq] 1580863 7633421,9196060,15489334,15302935,14702039,12477932,11805826,10830953,9370297,9205129,8889548,8753807,20424473,17207965 7109 BC071569,NG_008658,AB001517,AB001523,CH471079,U61520,AK095010,AK295369,AK300912,AK303570,AL559301,AL833668,BC046241,BC052247,NM_003274,BC094823,BC101728,BF979287,BG058078,BM988257,BU733895,BX370317,CR597587,U19252,U61500 NP_003265,BAA21136,BAA21099,EAX09459,AAB58468,BAG58329,BAG62546,BAG64591,CAI46146,AAH46241,AAH52247,AAH94823,AAI01729,AAC50134,AAC51826,P48553,Q5JPB5,Q76NH5,Q86SI7,ADQ32048 Hs.126221 EHOC-1|EHOC1|FLJ54223|FLJ54817|FLJ55683|GT334|MGC126777|TMEM1|TRS130|TRS30 TRAPP 130 kDa subunit|TRAPP subunit TMEM1|epilepsy holoprosencephaly candidate 1 protein|epilepsy holoprosencephaly candidate-1 protein|trafficking protein particle complex subunit 10|trafficking protein particle complex subunit 130|trafficking protein particle complex subunit TMEM1|transmembrane protein 1|transport protein particle subunit TMEM1 protein-coding 1350228 TRAPPC2 trafficking protein particle complex 2 The protein encoded by this gene is thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind MBP1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been found for this gene. [provided by RefSeq] 20498720,20108251,11134351,11805826,10431248,19002213,18393234,18247296,16344560,15952107,15772651,15489334,15300622,15221797,15146197,14702039,14597397,12939648,12919139,12681486,12579492,12477932,12123495,12030902,11595175,11424925,11349230,12650905,11031107,8889548,8733060,8401585,19417549,19615732,19766614 6399 NM_014563,NM_001011658,NM_001128835,NG_011555,AC003037,AF157060,AF157061,AF157062,AF157063,AF157064,AF157065,CH471074,AA351319,AA770629,AK055671,AK098253,AK310542,AK313736,AV763683,BC016915,BC052618,BG033605,BI821518,BM931610,BX112362,CB962763,CD698535,CN430081,DA344866,DA350753,DA542477 NP_055378,NP_001011658,NP_001122307,AAD49845,EAW98829,EAW98830,EAW98831,EAW98832,EAW98833,EAW98834,BAG36477,AAH16915,AAH52618,O14582,ABM82434,ABM85624,ABM85625,ACE87429,ACE86743 Hs.592238,Hs.622292 MIP-2A|MIP2A|SEDL|SEDT|TRAPPC2P1|TRS20|ZNF547L|hYP38334 MBP-1 interacting protein-2A|MBP-1-interacting protein 2A|OTTHUMP00000022938|sedlin|trafficking protein particle complex subunit 2 protein-coding 1604619 TRAPPC2L trafficking protein particle complex 2-like 16344560,16189514,12477932,11042152,19416478 51693 NM_016209,AC092384,CH471184,AF089106,AF161524,AK126779,AK307253,AK310805,AK311885,BC011369,BC017440,BC018024,BC105809,CR602762,CR614080,CR619389,CR626235,DA293122 NP_057293,EAW66756,AAF00568,AAF29139,BAC86686,BAG34826,AAH11369,AAH18024,AAI05810,Q9UL33 Hs.461722 FLJ44827|HSPC176|MGC111156 hematopoietic stem/progenitor cells 176|trafficking protein particle complex subunit 2-like protein protein-coding 1351912 TRAPPC2P1 trafficking protein particle complex 2 pseudogene 1 This gene has been described as a transcribed retropseudogene (or retro-xaptonuon) based on its structure which lacks most of the introns of SEDL and the detection of transcripts from this locus. Most retropseudogenes are thought to not express protein products. A protein product could potentially be encoded by this retropseudogene that would be identical to the protein product of the SEDL gene. However, it remains unclear whether this gene encodes a protein product or is a transcribed retropseudogene. [provided by RefSeq] 14597397,12939648,12935876,12700240,12477932,11181995,11134351,11031107,16189514,10431248,11805826 10597 AF058918,AF291676,BC008889,BC032809,BF984818,BU556832,CR456859,NR_002166,CH471135,AC003002 EAW72495,EAW72496,CAG33140 Hs.446620 MIP-2A|SEDLP|SEDLP1 pseudo 3207731 TRAPPC2P10 trafficking protein particle complex 2 pseudogene 10 414752 AC073893,NG_004755 TRAPPC2P5B pseudo 1347454 TRAPPC2P2 trafficking protein particle complex 2 pseudogene 2 11031107 27196 NG_005354,AC099805 SEDLP2 pseudo 1349223 TRAPPC2P3 trafficking protein particle complex 2 pseudogene 3 11031107,9847074 27195 NG_004636,AC007742 SEDLP3 pseudo 1352504 TRAPPC2P4 trafficking protein particle complex 2 pseudogene 4 11031107,9847074 27194 NG_004755,AC007965 SEDLP4 pseudo 1343827 TRAPPC2P5 trafficking protein particle complex 2 pseudogene 5 11031107,9847074 27193 NG_004755,AC010682 SEDLP5 pseudo 1601872 TRAPPC2P7 trafficking protein particle complex 2 pseudogene 7 11031107,9847074 392597 NG_004636,AC022486,AC084354 SEDLP7 pseudo 3207732 TRAPPC2P8 trafficking protein particle complex 2 pseudogene 8 9847074 414751 AC024183,NG_004636 TRAPPC2P3B pseudo 3207730 TRAPPC2P9 trafficking protein particle complex 2 pseudogene 9 414753 AC016752,NG_004755 TRAPPC2P4B pseudo 1319308 TRAPPC3 trafficking protein particle complex 3 TRAPPC3 is a component of the TRAPP complex, which is involved in tethering of transport vesicles to the cis-Golgi membrane (Turnbull et al., 2005 [PubMed 15692564]).[supplied by OMIM] 1580863 16908848,16880271,16262728,16189514,15728249,15692564,15608655,15489334,14702039,12477932,11805826,10698928,9564032,9110174,8619474,16828797,18029348 27095 NM_014408,AC114484,CH471059,CQ834606,AF041432,AJ224335,AK094755,AK315610,AY007139,BC007662,CR595065,CR595394,CR610083,CR612867,CR616480,CR621078 NP_055223,EAX07385,EAX07386,EAX07387,CAH05518,AAB96936,CAA11902,BAG37979,AAG02000,AAH07662,O43617 Hs.523131 BET3 1110058K12Rik|BET3 homolog|OTTHUMP00000009027|OTTHUMP00000009028|trafficking protein particle complex subunit 3 protein-coding 1348300 TRAPPC4 trafficking protein particle complex 4 1580863 15489334,12477932,11805826,11042152,10810093,9373149,8125298,16169070,17110339,11018053,18466758,20035503 51399 NM_016146,AP003392,CH471065,AF078862,AF105025,AF151862,AF161520,AK025623,AK290520,AK293914,AK293977,AK297422,BC010866,CR591716,CR599720,CR614639,CR616613 NP_057230,EAW67430,AAD44494,AAF21897,AAD34099,AAF29135,BAF83209,BAG57297,BAG57347,BAG59853,AAH10866,Q9Y296 Hs.132760 CGI-104|HSPC172|PTD009|SBDN|SYNBINDIN|TRS23 TRS23 homolog|hematopoietic stem/progenitor cell protein 172|trafficking protein particle complex subunit 4 protein-coding 1344244 TRAPPC5 trafficking protein particle complex 5 1580863 16341674,15489334,12477932,8889548 126003 NM_001042462,NM_174894,NM_001042461,AC008763,CH471139,AK292001,BC022836,BC042161,BG528980,BI196928,BM841051,BU736689,CR622194 NP_001035927,NP_777554,NP_001035926,EAW69012,BAF84690,AAH42161,Q8IUR0,ADR82706 Hs.432413 MGC52424|TRS31 trafficking protein particle complex subunit 5 protein-coding 1601965 TRAPPC6A trafficking protein particle complex 6A TRAPPC6A is a subunit of the TRAPP I and II complexes (Gwynn et al., 2006 [PubMed 16697553]).[supplied by OMIM] 16697553,16262728,16189514,15489334,15057824,12477932,19197348 79090 NM_024108,AC005757,CH471126,AF161407,BC001907,BC004450,FJ418644 NP_077013,AAC62259,EAW57326,EAW57327,EAW57328,EAW57329,AAF28967,AAH01907,AAH04450,ACJ50530,O75865 Hs.466929 HSPC289|MGC2650|TRS33 TRAPP complex subunit 6A|TRAPPC6Adelta29-42|trafficking protein particle complex subunit 6A protein-coding 1319611 TRAPPC6B trafficking protein particle complex 6B TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM] 16697553,16025134,15489334,14702039,12477932,17207965 122553 NM_177452,NM_001079537,AL109628,AL132639,CH471078,AK025437,AK056690,AK310730,AK315900,AL833179,BC030604,BC047328,BX161510,BX248013,CR614282,AK294339 NP_803235,NP_001073005,EAW65821,EAW65822,EAW65823,EAW65824,BAG51784,CAI46185,AAH47328,CAD61947,CAD62341,Q86SZ2,BAF98791,BAG57609,ADQ32975 Hs.13303 FLJ17772|FLJ79549|TPC6 trafficking protein particle complex subunit 6B protein-coding 1352017 TRAPPC7 trafficking protein particle complex 7 373174 1346606 TRAPPC8 trafficking protein particle complex 8 373175 1605926 TRAPPC9 trafficking protein particle complex 9 NIBP binds NIK (MIM 604655) and IKK-beta (IKBKB; MIM 603258) and plays a role in the neuronal NF-kappa-B (see MIM 164011) signaling pathway (Hu et al., 2005 [PubMed 15951441]).[supplied by OMIM] 15951441,14702039,12477932,11572484,16344560,20966969,19724895,19851296,20004763,20004765,20198315,20379614 83696 NM_001160372,AC007869,AC021636,AC021744,AC040978,AC091022,AC104244,AC115836,CH471060,AA863329,AB067469,AK026394,AK027689,AK128755,AK308815,AL833973,NM_031466,BC006206,BC003650,BC065288,BP394939,DA228705,DA782470,AY190606,AY630619,NG_016478 NP_113654,NP_001153844,EAW92200,EAW92201,BAB67775,BAB55299,BAC87600,AAH03650,AAH06206,AAV31908,AAH65288,Q96Q05,AAO38740,CAH56384 Hs.116828,Hs.654911 IBP|IKBKBBP|KIAA1882|MGC4737|MGC4769|MRT13|NIBP|T1|TRS120 IKK2 binding protein|NIK and IKK-beta binding protein|NIK- and IKBKB-binding protein|TRAPP 120 kDa subunit|trafficking protein particle complex subunit 9|tularik gene 1 protein protein-coding 1350612 TRAT1 T cell receptor associated transmembrane adaptor 1 12660731,9687533,11390434,16160011,15489334,12477932,11042152,10723796,10663578,10790433,18817831 50852 NM_016388,AC016932,AJ240084,CH471052,AF161547,AJ224878,AJ240085,AK291991,BC025713,BX111605,BX329167,BX415345,CR593848,CR623824 NP_057472,EAW79717,EAW79718,AAF29034,CAA12178,CAB72134,BAF84680,AAH25713,Q6PIZ9,ABM82979,ABM86173 Hs.138701 HSPC062|TCRIM|TRIM T cell receptor interacting molecule|T-cell receptor interacting molecule|T-cell receptor-associated transmembrane adapter 1|T-cell receptor-interacting molecule|pp29/30|t cell receptor interacting molecule protein-coding 1350032 TRAV1-1 T cell receptor alpha variable 1-1 28693 AE000658 1353370 TRAV1-2 T cell receptor alpha variable 1-2 28692 AE000658 1353552 TRAV10 T cell receptor alpha variable 10 28676 AE000659 1345046 TRAV11 T cell receptor alpha variable 11 pseudogene 8188290 28675 NG_001332,AE000659 TCRAV11S1 pseudo 1349893 TRAV12-1 T cell receptor alpha variable 12-1 28674 AE000659 1352006 TRAV12-2 T cell receptor alpha variable 12-2 28673 AE000659 1343077 TRAV12-3 T cell receptor alpha variable 12-3 28672 X06193 1348286 TRAV13-1 T cell receptor alpha variable 13-1 28671 AE000659 1350924 TRAV13-2 T cell receptor alpha variable 13-2 28670 AE000659 1347572 TRAV14DV4 T cell receptor alpha variable 14/delta variable 4 28669 M21626 1353574 TRAV15 T cell receptor alpha variable 15 pseudogene 8188290 28668 NG_001332,AE000659 TCRAV15S1 pseudo 1345107 TRAV16 T cell receptor alpha variable 16 28667 AE000659 1348385 TRAV17 T cell receptor alpha variable 17 28666 AE000660 1348530 TRAV18 T cell receptor alpha variable 18 28665 AE000660 1351851 TRAV19 T cell receptor alpha variable 19 28664 AE000660 1342589 TRAV2 T cell receptor alpha variable 2 28691 AE000658 1349078 TRAV20 T cell receptor alpha variable 20 28663 AE000660 1345782 TRAV21 T cell receptor alpha variable 21 28662 AE000660 1343396 TRAV22 T cell receptor alpha variable 22 28661 AE000660 1348363 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 28660 AE000660 1353069 TRAV24 T cell receptor alpha variable 24 28659 AE000660 1349708 TRAV25 T cell receptor alpha variable 25 28658 AE000660 1349637 TRAV26-1 T cell receptor alpha variable 26-1 28657 AE000660 1344253 TRAV26-2 T cell receptor alpha variable 26-2 28656 AE000660 1344382 TRAV27 T cell receptor alpha variable 27 28655 AE000660 1351669 TRAV28 T cell receptor alpha variable 28 pseudogene 8188290 28654 NG_001332,AE000660 TCRAV28S1 pseudo 1346761 TRAV29DV5 T cell receptor alpha variable 29/delta variable 5 28653 AE000660 1351724 TRAV3 T cell receptor alpha variable 3 28690 AE000658 1353427 TRAV30 T cell receptor alpha variable 30 28652 AE000660 1346852 TRAV31 T cell receptor alpha variable 31 pseudogene 8188290 28651 NG_001332,AE000660 TCRAV31S1 pseudo 1344861 TRAV32 T cell receptor alpha variable 32 pseudogene 8188290 28650 NG_001332,AE000660 TCRAV32S1 pseudo 1347318 TRAV33 T cell receptor alpha variable 33 pseudogene 8188290 28649 NG_001332,AE000660 C14orf12|TCRAV33S1 pseudo 1348642 TRAV34 T cell receptor alpha variable 34 28648 AE000660 1354276 TRAV35 T cell receptor alpha variable 35 28647 AE000660 1353711 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 28646 AE000660 1348655 TRAV37 T cell receptor alpha variable 37 pseudogene 8188290 28645 NG_001332,AE000661 TCRAV37S1 pseudo 1351446 TRAV38-1 T cell receptor alpha variable 38-1 28644 AE000661 1348109 TRAV38-2DV8 T cell receptor alpha variable 38-2/delta variable 8 28643 AE000661 1343518 TRAV39 T cell receptor alpha variable 39 28642 AE000661 1349042 TRAV4 T cell receptor alpha variable 4 28689 AE000658 1351178 TRAV40 T cell receptor alpha variable 40 28641 X73521 1353137 TRAV41 T cell receptor alpha variable 41 28640 AE000661 1347845 TRAV5 T cell receptor alpha variable 5 28688 AE000659 1347077 TRAV6 T cell receptor alpha variable 6 6956 Z49060 1344609 TRAV7 T cell receptor alpha variable 7 28686 AE000659 1351213 TRAV8-1 T cell receptor alpha variable 8-1 28685 AE000659 1342558 TRAV8-2 T cell receptor alpha variable 8-2 28684 AE000659 1344365 TRAV8-3 T cell receptor alpha variable 8-3 28683 AE000659 1354098 TRAV8-4 T cell receptor alpha variable 8-4 28682 AE000659 1346443 TRAV8-5 T cell receptor alpha variable 8-5 pseudogene 8188290 28681 NG_001332,AE000659 TCRAV8S5|TRAV85 pseudo 1343960 TRAV8-6 T cell receptor alpha variable 8-6 28680 X02850 1351670 TRAV8-7 T cell receptor alpha variable 8-7 28679 AE000660 1347687 TRAV9-1 T cell receptor alpha variable 9-1 28678 AE000659 1345192 TRAV9-2 T cell receptor alpha variable 9-2 28677 AE000659 735360 TRB@ T cell receptor beta locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq] 20553737,2426193,11048639,11827988,15489916,17652306,19380806,19056690,18777093,18523312,18502180,18453566,18412309,18378792,18323803,18279372,18275829,17785774,17693403,17622942,17560605,17023417,16968899,16741518,16709873,16709841,16673021,16424183,16310048,15905344,15708895,15613535,15476487,15138733,14687707,14621425,12925207,12635936,12594835,12552422,12472659,12366778,12100034,12039522,11920559,11862389,11862388,11841483,11142503,11096259,8650574,8550092,6334238,6334237,3983641,3860845,3011602,2144610,9586631,20713881,19051206,19706884,19923469,20035823,20042591,20681514 6957 NG_001333,L36092,U66059,U66060,U66061,AC104597,AC231380,AC231381,AC233282 TCRB|TRB T cell receptor beta locus|T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster|T-cell receptor, beta cluster|t-cell receptor beta chain protein-coding 1349889 TRBC1 T cell receptor beta constant 1 1580863 28639 P01850 M12887 1346475 TRBC2 T cell receptor beta constant 2 28638 M12888 1348197 TRBD1 T cell receptor beta diversity 1 28637 X00936 1350149 TRBD2 T cell receptor beta diversity 2 28636 X02987 1346311 TRBJ1-1 T cell receptor beta joining 1-1 28635 X00936 1343799 TRBJ1-2 T cell receptor beta joining 1-2 28634 X00936 1351714 TRBJ1-3 T cell receptor beta joining 1-3 28633 M14158 1348227 TRBJ1-4 T cell receptor beta joining 1-4 28632 M14158 1344842 TRBJ1-5 T cell receptor beta joining 1-5 28631 M14158 1353430 TRBJ1-6 T cell receptor beta joining 1-6 28630 M14158 1343386 TRBJ2-1 T cell receptor beta joining 2-1 28629 X02987 1346351 TRBJ2-2 T cell receptor beta joining 2-2 28628 X02987 1607040 TRBJ2-2P T cell receptor beta joining 2-2P (non-functional) 8650574,2997718 28627 NG_001333,U66061,AC104597 TRBJ22P pseudo 1354024 TRBJ2-3 T cell receptor beta joining 2-3 28626 X02987 1345344 TRBJ2-4 T cell receptor beta joining 2-4 28625 X02987 1346887 TRBJ2-5 T cell receptor beta joining 2-5 28624 X02987 1350678 TRBJ2-6 T cell receptor beta joining 2-6 28623 X02987 1352331 TRBJ2-7 T cell receptor beta joining 2-7 28622 M14159 1607041 TRBV1 T cell receptor beta variable 1 pseudogene 8650574 28621 NG_001333,AC231381,U66059 TCRBV1S1P|TCRBV27S1P pseudo 1344661 TRBV10-1 T cell receptor beta variable 10-1 28585 U17050 1347361 TRBV10-2 T cell receptor beta variable 10-2 28584 U17049 1350021 TRBV10-3 T cell receptor beta variable 10-3 28583 U03115 1349685 TRBV11-1 T cell receptor beta variable 11-1 28582 M33233 1345732 TRBV11-2 T cell receptor beta variable 11-2 28581 L36092 1343194 TRBV11-3 T cell receptor beta variable 11-3 28580 M33234 1347554 TRBV12-1 T cell receptor beta variable 12-1 pseudogene 8650574,3772297 28579 NG_001333,AC233282,U66059,X07224 TCRBV12S1|TCRBV8S4P|TRBV121 pseudo 1350320 TRBV12-2 T cell receptor beta variable 12-2 pseudogene 8650574,3772297 28578 AC233282,NG_001333,U66059,X06936 TCRBV12S2|TCRBV8S5P|TRBV122 pseudo 1349383 TRBV12-3 T cell receptor beta variable 12-3 28577 X07192 1346638 TRBV12-4 T cell receptor beta variable 12-4 28576 K02546 1347155 TRBV12-5 T cell receptor beta variable 12-5 28575 X07223 1343831 TRBV13 T cell receptor beta variable 13 28574 U03115 1352697 TRBV14 T cell receptor beta variable 14 28573 X06154 1349099 TRBV15 T cell receptor beta variable 15 28572 U03115 1345822 TRBV16 T cell receptor beta variable 16 28571 L26231 1353117 TRBV17 T cell receptor beta variable 17 28570 U03115 1351334 TRBV18 T cell receptor beta variable 18 28569 L36092 1349212 TRBV19 T cell receptor beta variable 19 28568 U48260 1348874 TRBV2 T cell receptor beta variable 2 28620 L36092 1354433 TRBV20-1 T cell receptor beta variable 20-1 28567 M11955 1349124 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) 8384723 6962 NG_001337,AF029308,AL139008,L05149 CAH69868 TCRBV20S2|TCRBV2O|TCRBV2S2O pseudo 1351520 TRBV21-1 T cell receptor beta variable 21-1 pseudogene 14702039,12477932,8650574 28566 NG_001333,L27608,L48728,U66060,AC231380 AAA51029,AAB59582,AAB59583 TCRBV10S1P|TCRBV21S1|TRBV211 pseudo 1345444 TRBV21OR9-2 T cell receptor beta variable 21/OR9-2 (non-functional) 8384723 6959 NG_001337,AF029308,AL139008,L05151 Q5W0G5 TCRBV10O|TCRBV10S2O|TCRBV21S2 pseudo 1603650 TRBV22-1 T cell receptor beta variable 22-1 pseudogene 8650574 28565 AC231380,NG_001333,U66061 TCRBV22S1|TCRBV29S1P|TRBV22 pseudo 1342627 TRBV22OR9-2 T cell receptor beta variable 22/OR9-2 pseudogene 8384723 246283 NG_001337,AF029308,AL139008 TCRBV22S2|TCRBV29S2O pseudo 1603651 TRBV23-1 T cell receptor beta variable 23-1 (non-functional) 8650574 28564 NG_001333,U66061,AC231380 TCRBV19S1P|TCRBV23S1|TRBV231 pseudo 1344272 TRBV23OR9-2 T cell receptor beta variable 23/OR9-2 (non-functional) 8384723 28552 NG_001337,AF029308,AL139008,L27615 CAH69871,AAA36721,Q5W0G4 TCRBV19S2O|TCRBV23S2|TRBV23OR92 pseudo 1343306 TRBV24-1 T cell receptor beta variable 24-1 28563 M11951 1351381 TRBV24OR9-2 T cell receptor beta variable 24/OR9-2 pseudogene 8384723 6961 NG_001337,AF029308,AL139008,L05153 TCRBV15O|TCRBV15S2O|TCRBV24S2 pseudo 1347072 TRBV25-1 T cell receptor beta variable 25-1 28562 L27610 1344379 TRBV25OR9-2 T cell receptor beta variable 25/OR9-2 pseudogene 8384723 6960 L05152,NG_001337,AF029308,AL356489 CAC88180 TCRBV11O|TCRBV11S2O|TCRBV25S2 pseudo 1603652 TRBV26 T cell receptor beta variable 26 pseudogene 8650574 28561 NG_001333,U66061,AC231380 TCRBV26S1|TCRBV28S1P pseudo 1350872 TRBV26OR9-2 T cell receptor beta variable 26/OR9-2 pseudogene 8384723 246285 NG_001337,AF029308,AL356489 TCRBV26S2|TCRBV28S2|TCRBV28S2O pseudo 1343790 TRBV27 T cell receptor beta variable 27 28560 L36092 1352321 TRBV28 T cell receptor beta variable 28 28559 U08314 1354430 TRBV29-1 T cell receptor beta variable 29-1 28558 L36092 1342897 TRBV29OR9-2 T cell receptor beta variable 29/OR9-2 (non-functional) 8384723 6958 NG_001337,AF029308,AL358573,L05150 TCRBV29S2|TCRBV4O|TCRBV4S2O pseudo 1345889 TRBV3-1 T cell receptor beta variable 3-1 28619 U07977 1607042 TRBV3-2 T cell receptor beta variable 3-2 pseudogene 8650574 28618 NG_001333,U66059 TCRBV3S2|TCRBV9S2A2PT|TRBV32 pseudo 1343540 TRBV30 T cell receptor beta variable 30 28557 L36092 1348099 TRBV4-1 T cell receptor beta variable 4-1 28617 U07977 1347808 TRBV4-2 T cell receptor beta variable 4-2 28616 U07975 1349019 TRBV4-3 T cell receptor beta variable 4-3 28615 U07978 1349941 TRBV5-1 T cell receptor beta variable 5-1 28614 L36092 1607043 TRBV5-2 T cell receptor beta variable 5-2 pseudogene 12707368,8650574 28613 NG_001333,AC233282,U66059 TCRBV31S1|TCRBV5S2P|TRBV52 pseudo 1353738 TRBV5-3 T cell receptor beta variable 5-3 (non-functional) 8650574,1660526 28612 NG_001333,AC233282,U66059,X61439 CAA43679 TCRBV5S3|TCRBV5S5P|TRBV53 pseudo 1345174 TRBV5-4 T cell receptor beta variable 5-4 28611 L36092 1346977 TRBV5-5 T cell receptor beta variable 5-5 28610 L36092 1350198 TRBV5-6 T cell receptor beta variable 5-6 28609 L36092 1350279 TRBV5-7 T cell receptor beta variable 5-7 28608 L36092 1353713 TRBV5-8 T cell receptor beta variable 5-8 28607 L36092 1345448 TRBV6-1 T cell receptor beta variable 6-1 28606 X61446 1347964 TRBV6-2 T cell receptor beta variable 6-2 28605 X61445 1350235 TRBV6-3 T cell receptor beta variable 6-3 28604 U07978 1343979 TRBV6-4 T cell receptor beta variable 6-4 28603 X61653 1346660 TRBV6-5 T cell receptor beta variable 6-5 28602 L36092 1349277 TRBV6-6 T cell receptor beta variable 6-6 28601 L36092 1351484 TRBV6-7 T cell receptor beta variable 6-7 28600 L36092 1345245 TRBV6-8 T cell receptor beta variable 6-8 28599 L36092 1347958 TRBV6-9 T cell receptor beta variable 6-9 28598 X61447 1345893 TRBV7-1 T cell receptor beta variable 7-1 (non-functional) 8650574,8381389,1660526,1404388 28597 NG_001333,AC231381,U66059,X61444 CAA43684 TCRBV6S7P|TCRBV7S1|TRBV71 pseudo 1349523 TRBV7-2 T cell receptor beta variable 7-2 28596 X61442 1352779 TRBV7-3 T cell receptor beta variable 7-3 28595 X61440 1346866 TRBV7-4 T cell receptor beta variable 7-4 28594 L36092 1603647 TRBV7-5 T cell receptor beta variable 7-5 pseudogene 8650574 28593 NG_001333,AC233282,U66060 TCRBV6S9P|TCRBV7S5|TRBV75 pseudo 1351136 TRBV7-6 T cell receptor beta variable 7-6 28592 L36092 1354335 TRBV7-7 T cell receptor beta variable 7-7 28591 L36092 1342684 TRBV7-8 T cell receptor beta variable 7-8 28590 M11953 1343500 TRBV7-9 T cell receptor beta variable 7-9 28589 L36092 1603648 TRBV8-1 T cell receptor beta variable 8-1 pseudogene 8650574 28588 NG_001333,U66059,AC233282 TCRBV30S1P|TCRBV8S1P|TRBV81 pseudo 1603649 TRBV8-2 T cell receptor beta variable 8-2 pseudogene 8650574 28587 AC233282,NG_001333,U66059 TCRBV32S1P|TRBV82 pseudo 1347924 TRBV9 T cell receptor beta variable 9 28586 L36092 1603653 TRBVA T cell receptor beta variable A pseudogene 8650574 28556 AC231380,NG_001333,U66061 TCRBV33S1 pseudo 1347997 TRBVAOR9-2 T cell receptor beta variable A/OR9-2 pseudogene 8384723 246286 NG_001337,AF029308,AL356489 TCRBV33S2|TRBVA/OR9-2 pseudo 1603654 TRBVB T cell receptor beta variable B pseudogene 8650574 28555 NG_001333,AC231380,U66061 TCRBV34S1 pseudo 1342663 TRBVOR9@ T cell receptor beta variable orphans on chromosome 9 8384723 6963 1353545 TRD@ T cell receptor delta locus 20592281,19536290,19666468,19756574,19843947,20413723,19446661,18624305,18440637,18321859,17015149,16548914,16424183,16307908,16081821,14734745,14656882,13679813,12918704,12847212,12707047,12088111,11714808,8386664,8340374,3499667,2965024,2825032,2521355,2521243,2456576,2439914,20181655 6964 AE000661,NG_001332 FLJ52034|FLJ52576|FLJ53668|FLJ54555|FLJ55265|FLJ56790|TCRD|TCRDV1|TRD T cell receptor delta locus|T-cell antigen receptor, delta polypeptide|T-cell receptor, delta (V,D,J,C) 2315792 GLUCO171_H protein-coding 1348389 TRDC T cell receptor delta constant 28526 M22148 1352762 TRDD1 T cell receptor delta diversity 1 28525 M23325 1348450 TRDD2 T cell receptor delta diversity 2 28524 M22153 1348569 TRDD3 T cell receptor delta diversity 3 28523 M22152 1349238 TRDJ1 T cell receptor delta joining 1 28522 M20289 1345756 TRDJ2 T cell receptor delta joining 2 28521 L36386 1352909 TRDJ3 T cell receptor delta joining 3 28520 M21508 1348491 TRDJ4 T cell receptor delta joining 4 28519 1606039 TRDMT1 tRNA aspartic acid methyltransferase 1 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a protein with similarity to DNA methyltransferases, but this protein does not display methyltransferase activity. The protein strongly binds DNA, suggesting that it may mark specific sequences in the genome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 11230735,11713417,12665573,15094296,16679017,18567810,19680556,19808971,19851296,20147412,9425235,19246518,19161160,19064572,17533396,16424344,16173030,16169070,15721400,15164054,14702039,12794065,12477932,11551826,11139614,9763678,9599025,9592134,19763880,20800603 1787 BU620523,DC411638,NM_004412,AC067747,AL133415,CH471072,EF444974,AF012128,AF045888,AF329940,AF329941,AF329942,AF329943,AF329944,AJ223333,AK021659,AK291417,AK294100,AK299027,AK303428,BC047733,BX537961,CR450316,CR604140 NP_004403,CAB87964,CAI39482,CAI39483,CAI39484,EAW86217,EAW86218,EAW86219,ACA05981,ACA05982,ACA05983,ACA05984,ACA05986,ACA05987,AAC51939,AAC39764,AAK68034,AAK68035,AAK68036,AAK68037,AAK68033,CAA11272,BAF84106,BAH11673,BAG61104,BAH13958,AAH47733,CAD97925,CAG29312,O14717,Q5JVT2,Q5JVT3,Q5JVT4,Q6ICS7,Q7Z3E4 Hs.351665 DMNT2|DNMT2|M.HsaIIP|MHSAIIP|PUMET|PuMet|RNMT1 DNA (cytosine-5)-methyltransferase-like protein 2|DNA MTase homolog HsaIIP|DNA methyltransferase-2|OTTHUMP00000019229|tRNA (cytosine-5-)-methyltransferase protein-coding 735791 TRDN triadin 1580863 7588753,11026130,18025088,17526652,17081983,14638677,12659871,12480542,12477932,11707337,11504710,11113462,11069905,10748065,10531621,10212196,9890886,9287354,7721813,11741309,19890582,20379614,20414141 10345 NM_006073,AL133257,AL357352,AL445259,AL603902,AL603911,CH471051,AJ489257,AK291867,AK307619,BC012590,BC029393,BC054863,BC057222,BC070290,BC139910,CR749591,U18985 NP_006064,CAI19636,CAI16757,CAI41045,CAI41046,CAI41047,CAI41048,CAH70824,CAI14448,EAW48157,CAD33526,BAF84556,AAH29393,AAH57222,AAH70290,AAI39911,CAH18390,AAA75315,Q05C44,Q13061,Q5JS60,Q5JS61,Q68D40,Q6NSB8,Q6PG49,Q8IVK2,AAI67789 Hs.654601 DKFZp779I2253|MGC88285|TDN|TRISK|TRISK51 OTTHUMP00000017124|dJ166D18.1 (triadin)|triadin protein-coding 1352101 TRDV1 T cell receptor delta variable 1 28518 M22198 1343000 TRDV2 T cell receptor delta variable 2 28517 X15207 1348439 TRDV3 T cell receptor delta variable 3 28516 M23326 736593 TREH trehalase (brush-border membrane glycoprotein) This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. [provided by RefSeq] 1580863 8773341,9427547,19126402,14702039,12477932,9373149,8125298,4737205,2619709,20379614 11181 NM_007180,AP002954,CH471065,AB000824,AK091981,AK223140,AK223143,AK309565,BC109206,NG_023321 NP_009111,EAW67408,EAW67409,BAA24381,BAG52455,BAD96860,BAD96863,AAI09207,O43280 Hs.129712 MGC129621|TRE|TREA alpha,alpha-trehalase|alpha,alpha-trehalose glucohydrolase|trehalase protein-coding 1319823 TREM1 triggering receptor expressed on myeloid cells 1 Monocyte/macrophage- and neutrophil-mediated inflammatory responses can be stimulated through a variety of receptors, including G protein-linked 7-transmembrane receptors (e.g., FPR1; MIM 136537), Fc receptors (see MIM 146790), CD14 (MIM 158120) and Toll-like receptors (e.g., TLR4; MIM 603030), and cytokine receptors (e.g., IFNGR1; MIM 107470). Engagement of these receptors can also prime myeloid cells to respond to other stimuli. Myeloid cells express receptors belonging to the Ig superfamily, such as TREM1, or to the C-type lectin superfamily. Depending on their transmembrane and cytoplasmic sequence structure, these receptors have either activating (e.g., KIR2DS1; MIM 604952) or inhibitory functions (e.g., KIR2DL1; MIM 604936).[supplied by OMIM] 1580863 10799849,17452516,19596984,19527514,19479878,19251433,19109693,19019335,18818748,18656898,18634145,18628981,18396215,18317529,18008257,17785845,17729416,17659879,17634956,17558349,17505044,17336301,17277102,17202378,17008237,16733861,16437719,15585833,15489334,15351648,15309732,15067076,14656437,14574404,12792857,12646648,12645956,12477932,11922939,11323674,9373149,8125298,19913121,20628086,19230638,19396532,19484952,19591072,19917159,20156945,20237496,20375613,20140262 54210 NM_018643,AL391903,CH471081,DQ217941,AF196329,AF287008,AK223264,AK292162,AK301519,AK313104,AY074783,BC017773 NP_061113,CAI19864,EAX04043,EAX04044,ABB01010,AAF71694,AAF90197,BAD96984,BAF84851,BAG63024,BAG35927,AAL74018,AAH17773,Q38L15,Q9NP99,ABM82935,ABM86124 Hs.283022 TREM-1 triggering receptor expressed on monocytes 1|triggering receptor expressed on myeloid cells 1|triggering-receptor TREM1 protein-coding 1320401 TREM2 triggering receptor expressed on myeloid cells 2 The protein encoded by this gene is a membrane protein that forms a receptor signaling complex with TYROBP. The encoded protein may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). [provided by RefSeq] 10799849,19457124,19079182,19019460,18551625,17530208,16505336,15966270,15489334,12925681,12913093,12754369,12645956,12477932,12080485,19913121,20628086,16715077,19230638,20421649,18546367 54209 NM_018965,NG_011561,AL133404,CH471081,DQ217932,AB062787,AF213457,AK312215,BC018284,BC032362 NP_061838,CAI19911,CAI19912,EAX04032,EAX04033,EAX04034,ABB01002,BAB78736,AAF69824,BAG35148,AAH32362,Q5TCX0,Q5TCX1,Q9NZC2,ABM82236,ABM85420 Hs.435295 TREM-2|Trem2a|Trem2b|Trem2c OTTHUMP00000016369|triggering receptor expressed on monocytes 2|triggering receptor expressed on myeloid cells 2|triggering receptor expressed on myeloid cells 2a protein-coding 1344660 TREML1 triggering receptor expressed on myeloid cells-like 1 TREML1 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties. TREML1 enhances calcium signaling in an SHP2 (PTPN11; MIM 176876)-dependent manner (Allcock et al., 2003 [PubMed 12645956]; Barrow et al., 2004 [PubMed 15128762]).[supplied by OMIM] 20093931,15100151,12645956,12466851,19436112,18612537,17549298,16505478,15489334,15128762,19230638,14574404,12975309,12665801,12477932,12393607 340205 NM_178174,AL133404,CH471081,AF508193,AF534822,AF534823,AY358357,BC100944,BC100945,BC100946 NP_835468,CAI19913,EAX04029,EAX04030,EAX04031,AAO37827,AAO15020,AAO15021,AAQ88723,AAI00945,AAI00946,AAI00947,Q86YW5 Hs.117331 GLTL1825|MGC119173|PRO3438|TLT-1|TLT1|dJ238O23.3 trem-like transcript 1 protein|triggering receptor expressed on myeloid cells-like protein 1 protein-coding 1353340 TREML2 triggering receptor expressed on myeloid cells-like 2 TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM] 18650384,16670310,14702039,14574404,12975309,12645956,12477932,19544488,20379614 79865 NM_024807,AL133404,AL391903,CH471081,AF534824,AK023755,AY358171,BC125078,BC125079 NP_079083,CAI19909,CAI19858,EAX04035,EAX04036,AAO15022,BAB14668,AAQ88538,AAI25079,AAI25080,Q5T2D2 Hs.164797 C6orf76|FLJ13693|MGC149715|MGC149716|TLT-2|TLT2|dJ238O23.1 OTTHUMP00000017974|trem-like transcript 2 protein|triggering receptor expressed on myeloid cells-like protein 2 protein-coding 1351289 TREML2P triggering receptor expressed on myeloid cells-like 2 pseudogene 12645956 221438 NR_002794,AL391903,AF534827 Hs.639392 TLT5|TREML2P pseudo 1351303 TREML3 triggering receptor expressed on myeloid cells-like 3 TREML3 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM] 12645956 340206 NR_027256,AL391903,AF534825 AAO15023,Q8IWX9 Hs.93698 TLT3 pseudo 1347933 TREML4 triggering receptor expressed on myeloid cells-like 4 14702039,12975309,12645956,12477932,20237496 285852 NM_198153,AL391903,CH471081,AF534826,AK090633,AY358271,BC101780,BC105101,BC143652 NP_937796,EAX04038,AAQ88638,AAI01781,AAI05102,AAI43653,Q6UXN2 Hs.434181 MGC126829|TLT4 TLT-4|TREM like transcript 4|trem-like transcript 4 protein|triggering receptor expressed on myeloid cells-like protein 4 protein-coding 1316196 TRERF1 transcriptional regulating factor 1 This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. [provided by RefSeq] 1580863 19913121,20628086,11349124,17015480,15899840,15302935,15072559,14702039,14574404,12530663,12101186,9259413,20379614 55809 NM_033502,AL096814,AL138735,AL450325,CH471081,CS300664,AF111801,AF297872,AJ277275,AJ277276,AK002096,AK127493,AK308473,AM404182,AM404183,AM404259,BC047920 NP_277037,CAD92526,CAD92527,CAD92528,EAX04088,EAX04089,EAX04090,EAX04091,EAX04092,EAX04093,CAK32328,AAL39003,AAL01653,CAB88206,CAB88207,BAA92082,BAG54514,CAL49296,CAL49297,CAL49295,Q05GC8,Q8WYI6,Q96PN7,AAI56204 Hs.485392 BCAR2|FLJ21198|HSA277276|RAPA|RP1-139D8.5|TReP-132|dJ139D8.5 OTTHUMP00000016400|OTTHUMP00000016401|breast cancer anti-estrogen resistance 2|rapa-1|rapa-2|transcriptional regulating protein 132|transcriptional-regulating factor 1|transcriptional-regulating protein 132|zinc finger protein rapa|zinc finger transcription factor TReP-132 protein-coding 1349335 TRESMCR TRE oncogene, Smith Magenis syndrome chromosome region 10615134 27169 1323748 TREX1 three prime repair exonuclease 1 This gene encodes the major 3'->5' DNA exonuclease in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580482,1580863 10393201,16713580,10391904,11278605,18815223,18805785,18583934,18406216,18092167,18045533,17660820,17660818,17440703,17357087,17355961,17293595,17224176,17081983,16845398,16818237,16344560,16189514,15489334,14702039,12624136,12477932,10827106,9851434,8592332,8206943,3239950,19120481,19362700,19442247,19617005,20192983,20496420,20799324,20871604 1580482 11277 NM_033629,NM_016381,NG_009820,AC104448,AF483777,CH471055,AF151105,AJ243797,AK315196,AL137745,BC019863,BC023630,BQ933154,BT020052,BT020053,CR457119,DA364183,DA850044 Q5TZT0,Q6IAN5,Q9NSU2,AAI60084,ACE87729,ACE87047,NP_057465,NP_338599,AAL82504,EAW64883,AAD48774,CAB50866,BAG37636,AAH23630,AAV38855,AAV38856,CAG33400 Hs.707026,Hs.713742 AGS1|CRV|DKFZp434J0310|DRN3|HERNS 3' repair exonuclease 1|3'-5' exonuclease TREX1|DNase III|OTTHUMP00000210132|OTTHUMP00000210133|OTTHUMP00000210134|OTTHUMP00000210135|deoxyribonuclease III, dnaQ/mutD-like|three prime repair exonuclease 1 protein-coding 1354135 TREX2 three prime repair exonuclease 2 This gene encodes a protein with 3' exonuclease activity. Enzymes with this activity are involved in DNA replication, repair, and recombination. Similarity to an E. coli protein suggests that this enzyme may be a subunit of DNA polymerase III, which does not have intrinsic exonuclease activity. [provided by RefSeq] 11256614,11163772,11076863,9099879,10391904,19321497,19094998,18534978,18092167,17426129,16395595,16381901,16189514,15661738,15581481,15489336,15489334,12806015,12500544,12477932,11988770,11279105,11278605 11219 CH471172,NM_080701,DQ145722,AF151107,AW296654,U82695 EAW72870,NP_542432,AAZ38719,AAD48776,Q06S70,Q6ZUX9,Q9BQ50,Q9UFH9,AAI56245,AAI57022,ABM82688 Hs.644635 3'-5' exonuclease TREX2 long form|OTTHUMP00000025920|OTTHUMP00000025922|three prime repair exonuclease 2 protein-coding 736899 TRG@ T cell receptor gamma locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq] 20553737,20592281,19536290,19583687,19756574,19843947,11833498,11459064,10430935,3102973,2969332,2961609,2961573,2949984,2879283,2527426,2526744,1655357,12865322,3458221,19446661,18624305,18495780,18440637,16424183,16307908,15905344,15052681,12918704,12707047,12477932,12088111 6965 NG_001336,AC006033,AC007245,AF159056,CH236951 TCRG|TRG T cell receptor gamma locus|T-cell antigen receptor, gamma polypeptide|T-cell rearranging gene, gamma|T-cell receptor, gamma cluster|t-cell receptor gamma chain protein-coding 1350195 TRGC1 T cell receptor gamma constant 1 6966 M14996 1351505 TRGC2 T cell receptor gamma constant 2 6967 M15002 1347668 TRGJ1 T cell receptor gamma joining 1 6968 M12960 1344507 TRGJ2 T cell receptor gamma joining 2 6969 M12961 1349831 TRGJP T cell receptor gamma joining P 6970 M12950 1345520 TRGJP1 T cell receptor gamma joining P1 6971 X08084 1342936 TRGJP2 T cell receptor gamma joining P2 6972 M16016 1352083 TRGP1 tRNA glycine (GCC) pseudogene 1 2613239 7199 1348804 TRGV1 T cell receptor gamma variable 1 (non-functional) 2969332,2938743,2527426 6973 NG_001336,AC007245,AF159056,CH236951,M12949 TCRGV1|V1S1P pseudo 1344233 TRGV10 T cell receptor gamma variable 10 (non-functional) 2969332,2527426 6984 NG_001336,AC006033,AF159056,CH236951,X07206 CAA30182 TCRGV10|V3P pseudo 1348271 TRGV11 T cell receptor gamma variable 11 (non-functional) 2969758,2969332,2527426 6985 NG_001336,AC006033,AF159056,CH236951,Y11227 CAA72108,Q99601 TCRGV11|V4P pseudo 1353564 TRGV2 T cell receptor gamma variable 2 6974 M13429 1344243 TRGV3 T cell receptor gamma variable 3 6976 M13430 1343924 TRGV4 T cell receptor gamma variable 4 6977 X15272 1352683 TRGV5 T cell receptor gamma variable 5 6978 M36286 1346206 TRGV5P T cell receptor gamma variable 5P pseudogene 2969332,2938743,2527426 6979 NG_001336,AC006033,AF159056,CH236951,M13431 TCRGV5P|V1S5P pseudo 1350547 TRGV6 T cell receptor gamma variable 6 pseudogene 2969332,2938743,2527426 6980 NG_001336,AC006033,AF159056,CH236951,M13432 TCRGV5P|TCRGV6|V1S5P|V1S6P pseudo 1347990 TRGV7 T cell receptor gamma variable 7 pseudogene 12477932,2969332,2938743,2527426 6981 NG_001336,AC006033,AF159056,CH236951,M13433,BC027954 Hs.534032 TCRGV7|V1S7P pseudo 1344955 TRGV8 T cell receptor gamma variable 8 6982 M13434 1354410 TRGV9 T cell receptor gamma variable 9 1580863 6983 Q99603 X07205 1351637 TRGVA T cell receptor gamma variable A pseudogene 2969332,2527426 6986 NG_001336,AC006033,AF159056,CH236951,X07208 TCRGVA|V5P pseudo 1348803 TRGVB T cell receptor gamma variable B pseudogene 2969332,2527426 6987 NG_001336,AC006033,AF159056,CH236951,X07209 TCRGVB|V6P pseudo 69154 TRH thyrotropin-releasing hormone 1600406,1600414,1580863 7501234,1904138,1900134,2126343,19453261,19299458,19086053,18805917,17137217,16344560,15489334,15328193,15117874,14764629,12477932,12473660,12270926,12067454,11914577,10702693,9794253,8196193,7816190,7647472,19913121,20628086,19825978,20398908,20468064,8395824,20687402,18577758,16754659 1600406,1600414 7200 NG_027816,AC083906,CH471052,M63580,M63581,M63582,AK313473,BC069375,NM_007117,BC074888,BC074889,BC110515,BC110516,BE670731,DA515022,DA526260,AW205952 NP_009048,EAW79229,AAA36480,BAG36258,AAH69375,AAH74888,AAH74889,AAI10516,AAI10517,P20396 Hs.182231 MGC125964|MGC125965 OTTHUMP00000216040|prothyroliberin protein-coding 730936 TRHDE thyrotropin-releasing hormone degrading enzyme This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone. 10491199,12975309,12477932,10662590,20379614,20237162,19913121,20628086 29953 NM_013381,AC016256,AC078921,AC087886,AC133480,CH471054,AF126372,AK026034,AY358765,BC023230,BC142706,BC150181 NP_037513,EAW97281,AAF13141,AAQ89125,AAI42707,AAI50182,Q9UKU6 Hs.199814 FLJ22381|PAP-II|PGPEP2|TRH-DE TRH-degrading ectoenzyme|TRH-specific aminopeptidase|pyroglutamyl-peptidase II|thyroliberinase|thyrotropin-releasing hormone degrading ectoenzyme|thyrotropin-releasing hormone-degrading ectoenzyme protein-coding 737056 TRHR thyrotropin-releasing hormone receptor Thyrotropin-releasing hormone (TRH; MIM 275120), a small neuropeptide, is widely distributed throughout the central and peripheral nervous system as well as in extraneural tissues. The peptide is synthesized in the hypothalamus and transported by the portal vascular system to the anterior pituitary where it acts on thyrotropic and lactotropic cells to promote secretion of TSH and prolactin, respectively. Thyrotropin-releasing hormone receptor is a G protein-coupled receptor that activates the inositol phospholipid-calcium-protein kinase C transduction pathway upon the binding of TRH. The TRHR gene is expressed in the thyrotrope cells of the anterior pituitary.[supplied by OMIM] 1580863,1580744 8395824,19086053,18724972,16020481,15489334,15117874,14599121,12805411,12477932,12393857,12023974,11278883,9886052,9794253,9141550,8770906,8703031,8396925,8243797,8128317,8005602,7918619,7501234,19268274,19541745,19906838,20345371,16754659 1580744 7201 NM_003301,A41809,AC104945,AJ011701,CH471060,D85376,S75283,AY493373,BC105045,BC113360,D16845,X72089,X75071,NG_017161 NP_003292,CAA02627,CAA09746,EAW91923,BAA12796,AAB32222,AAR84356,AAI05046,AAI13361,BAA04120,CAA50979,CAA52965,P34981,ADR82960 Hs.3022 MGC141920 TRH-R|thyroliberin receptor|thyrotropin releasing hormone receptor|thyrotropin-releasing hormone receptor protein-coding 1602327 TRIAP1 TP53 regulated inhibitor of apoptosis 1 20877624,15735003,19171422,16541075,15489334,12477932,11042152,15735665,16712791 51499 NM_016399,AL021546,CH471054,AF161481,AK312006,BC002638,BC055313,CB141335,CR598391,CR624560,U75688 NP_057483,CAA16495,EAW98192,AAF29096,BAG34944,AAH02638,AAH55313,AAR00584,O43715,ABM84017,ABM87362 Hs.69499 HSPC132|P53CSV|WF-1 TP53-regulated inhibitor of apoptosis 1|p53-inducible cell-survival factor|protein 15E1.1 protein-coding 1354037 TRIB1 tribbles homolog 1 (Drosophila) 1580863 15299019,17452330,17724128,19148283,19060911,19060906,18987386,18596051,18193044,18193043,16715410,15489334,14702039,12736262,12477932,10727209,9342215,16595688,19760754,20972250,21071687,20005259,20610816,20570916,20571754,20679960,20692138,19487539,19656773,20160193,20864672,20339536 10221 AC091114,CH471060,AF205437,AF250310,AJ000480,AK001319,AK022787,AK297539,AL832388,BC012441,BC063292,CR608019,NM_025195,FJ515869,FB713563 NP_079471,EAW92085,AAG35663,AAK58174,CAA04119,BAG59938,CAI46181,AAH63292,Q96RU8,ACS13752,CAS91544 Hs.444947 C8FW|GIG2|SKIP1|TRB1 G-protein-coupled receptor induced protein|G-protein-coupled receptor-induced gene 2 protein|G-protein-coupled receptor-induced protein 2|GIG-2|TRB-1|phosphoprotein regulated by mitogenic pathways|tribbles homolog 1|tribbles-like protein 1 protein-coding 1351441 TRIB2 tribbles homolog 2 (Drosophila) This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 737633,1580863 18029348,18952906,18643775,17545167,17097562,16963228,16715410,15950723,15815621,15489334,15299019,15146197,12736262,12477932,9342215,8889548,20614846,20614847,20005259,20944657,12791994,16713569,17576771,19656773,20160349,20208562,20468071 737633 28951 NM_021643,NR_027303,NG_011644,AC009486,CH471053,AK129973,AK299146,AK313237,AY245544,BC002637,BQ188880,CN293921,CR591249,CR614490,CR626569,D87119,DC379987 NP_067675,AAY15015,EAX00907,EAX00908,EAX00909,BAH12958,BAG36048,AAO89231,AAH02637,BAA13250,Q92519 Hs.467751,Hs.715073,Hs.627749 C5FW|FLJ57420|GS3955|TRB2 TRB-2|tribbles homolog 2 protein-coding 1345491 TRIB3 tribbles homolog 3 (Drosophila) The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. [provided by RefSeq] 1580863 19913121,20628086,20693163,18408768,18276110,18187772,17872950,17707795,17369260,17112672,16966378,16887816,16715410,16169070,16129579,16123373,15781252,15775988,15489334,14702039,13679039,12791994,12736262,12477932,11780052,9373149,8125298,21130836,20461355,12743605,15299019,19389818,19291425,19180501,18984671,18660489,18436806,16794074,17576771,18029348,19139803,19389115,19505541,19904274,20064487,20139130,20393693,20592469 57761 NM_021158,AL034548,CH471133,AF250311,AJ697936,AK026945,AK222837,AK297546,AY247738,BC019363,BC027484,BG828172,CR457366,CR609787,HI204121 NP_066981,CAB81634,CAQ08006,EAX10678,AAK58175,CAG27047,BAB15597,BAD96557,BAG59941,AAP04407,AAH19363,AAH27484,CAG33647,Q96RU7,CBX54009 Hs.516826 C20orf97|NIPK|SINK|SKIP3|TRB3 OTTHUMP00000198129|TRB-3|neuronal cell death inducible putative kinase|neuronal cell death-inducible putative kinase|p65-interacting inhibitor of NF-kappa-B|p65-interacting inhibitor of NF-kappaB|tribbles homolog 3 protein-coding 1353087 TRICY1 trichilemmal cyst 1 94014 4143834 TRIL TLR4 interactor with leucine-rich repeats TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM] 12477932,12690205,19710467,19834535,9734811,9776767 9865 AB014544,AC005013,BC036337,CD580022,CH236948,CH471073,NM_014817 AAH36337,BAA31619,EAL24208,EAL24209,EAW93913,NP_055632,Q7L0X0 Hs.726206 KIAA0644 TLR4 interactor with leucine rich repeats protein-coding 1349784 TRIM10 tripartite motif-containing 10 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 16702430,12477932,11331580,11006080,10207104,9271628,8304341,19851445,20041166 10107 BC113419,L19497,NM_006778,NM_052828,AB088089,AB103595,AB202085,AL669914,AL671859,AL844220,BA000025,BX005441,BX927221,CH471081,CR753815,CR759838,CR788282,Y07829,AF220122,AF220123,AL360163,AL360164,BC093926 AAI13420,AAA72392,Q29863,Q5SRJ5,Q5SRK8,Q9UDY6,NP_006769,NP_439893,BAC54921,BAF31256,BAE78605,CAI18187,CAI18188,CAI17586,CAI17587,CAI18609,CAI18610,BAB63332,CAM26237,CAM26238,CAQ10308,CAQ10309,EAX03268,EAX03269,EAX03270,CAP58479,CAP58480,CAQ11091,CAQ11092,CAQ07456,CAQ07457,CAB52384,AAG53495,AAG53496,AAH93926 Hs.709483 HERF1|MGC141979|RFB30|RNF9 B30-RING finger protein|Zn-finger protein|hematopoietic RING finger 1|ring finger protein 9|tripartite motif protein 10|tripartite motif-containing 10|tripartite motif-containing protein 10 protein-coding 1313482 TRIM11 tripartite motif-containing 11 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq] 1580863 16098226,19472918,18275850,18248090,16904669,15489334,14702039,12670303,12477932,11331580 81559 NM_145214,AL670729,CH471098,AF220125,AF327056,AK074866,AK097825,AK226119,AK301859,AK314539,AL360165,BC011629,BC069227,CR606885 NP_660215,CAH71671,CAH71672,EAW69871,AAG53498,AAM63957,BAC11254,BAG53535,BAG63300,BAG37129,AAH11629,AAH69227,Q96F44,ABZ92544 Hs.13543 BIA1|RNF92 E3 ubiquitin-protein ligase TRIM11|RING finger protein 92|tripartite motif-containing 11|tripartite motif-containing protein 11 protein-coding 1316901 TRIM13 tripartite motif-containing 13 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1580863 12761501,9599022,18029348,17314412,16499869,15489334,15188451,15057823,14702039,14499696,12477932,11331580,11264177,11161783 10206 NM_213590,NM_001007278,NM_052811,NM_005798,AF241849,AF279660,AL137060,AL391993,CH471075,AF220127,AF220128,AF241850,AJ224819,AK001806,AK056841,AK314496,AL360196,AL832695,AY191002,AY455758,AY764035,BC003579,BC029514,BC055420,BC063407,BI668033,CR592295,CR593916,CR603616,CR612306,HC025770 NP_998755,NP_001007279,NP_434698,NP_005789,AAK51624,AAK13059,CAC43391,CAH72825,CAH72826,EAX08844,EAX08845,EAX08846,EAX08847,EAX08848,AAG53500,AAG53501,AAF91315,CAA12136,BAG37096,CAD38633,AAO38979,AAR31110,AAV51406,AAH03579,AAH63407,O60858,ABM83496,ABM86711,CBH19816 Hs.436922 CAR|DLEU5|LEU5|RFP2|RNF77 B-cell chronic lymphocytic leukemia tumor suppressor Leu5|CLL-associated RING finger|E3 ubiquitin-protein ligase TRIM13|OTTHUMP00000018430|OTTHUMP00000018433|RING finger protein 77|leukemia-associated protein 5|putative tumor suppressor RFP2|ret finger protein 2|tripartite motif protein 13|tripartite motif-containing 13|tripartite motif-containing protein 13 protein-coding 1323013 TRIM14 tripartite motif-containing 14 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Four alternatively spliced transcript variants for this gene have been described. [provided by RefSeq] 11331580,18978678,15489334,15164053,14702039,12477932,8590280 9830 NM_014788,NM_033219,AL137073,CH471105,AF220130,AF220131,AK055833,AK097480,AK292825,NM_033220,AK303366,BC006333,CR594155,CR598301,D50919 NP_150089,NP_055603,NP_150088,CAI13890,CAI13891,EAW58870,EAW58871,EAW58872,EAW58873,EAW58874,EAW58875,EAW58876,EAW58877,EAW58878,AAG53503,AAG53504,BAC05071,BAG64424,AAH06333,BAA09478,Q14142,Q548W9,Q6ZWL7,ABM84219,ABM87622,BAF85514 Hs.575631 KIAA0129 tripartite motif protein TRIM14|tripartite motif-containing 14|tripartite motif-containing protein 14 protein-coding 1322537 TRIM15 tripartite motif-containing 15 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 10207104,18248090,16702430,15489334,15342556,12477932,11331580,8812418,8304341,19549727,20211142,19851445,20379614,20466734,17207965 89870 AB088089,AB103595,AB202085,AL669914,AL671855,AL671859,AL844220,AL845450,BA000025,BX927221,CH471081,CR388382,NM_033229,CR788282,AF220132,AF220133,AI739162,AK290280,AK291853,BC038585,BP270476,U34249,BX005441,BX248419,CR759838 NP_150232,BAC54922,BAF31257,BAE78606,CAI18189,CAI18237,CAI18238,CAI17588,CAI18611,CAI17703,BAB63331,CAQ10310,EAX03271,CAQ08628,CAQ07458,AAG53505,AAG53506,BAF82969,BAF84542,AAH38585,AAD03787,Q0EFD1,Q5SRK9,Q5SRL0,Q9C019,CAQ11093,CAQ11094,ADQ31792 Hs.591789,Hs.606488 RNF93|ZNF178|ZNFB7 RING finger protein 93|tripartite motif-containing 15|tripartite motif-containing protein 15|zinc finger protein 178|zinc finger protein B7 protein-coding 1348776 TRIM16 tripartite motif-containing 16 This gene was identified as an estrogen and anti-estrogen regulated gene in epithelial cells stably expressing estrogen receptor. The protein encoded by this gene contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. The proteins of this family have been reported to be involved in a variety of biological processes including cell growth, differentiation and pathogenesis. Expression of this gene was detected in most tissues. Its function, however, has not yet been determined. [provided by RefSeq] 1580863 16636064,16575408,19147277,11919186,16079077,9817599,15489334,15302935,14702039,12477932,11331580,18029348,20729920,16169070 10626 NM_006470,AC005324,CH878675,AF096870,AK002035,AK056026,AK314557,BC001564,BC015674,BC053514,BC067096,CR457136,GN344137 NP_006461,EAW50853,AAC79080,BAG51004,BAG51608,BAG37142,AAH01564,AAH53514,AAH67096,CAG33417,O95361,ABZ92466,CAY56004,ADR82719 Hs.123534 DKFZp434O1826|EBBP estrogen-responsive B box protein|tripartite motif-containing 16|tripartite motif-containing protein 16 protein-coding 1606449 TRIM16L tripartite motif-containing 16-like 15489334,12477932 147166 NM_001037330,AC107982,BC127827,BC128591,BC146902,BC146907,CR594025,DQ232882,AK293428,AK298836,AK301639,AK301647,AK316368 NP_001032407,AAI27828,AAI28592,AAI46903,AAI46908,ABB18375,Q309B1,BAG56933,BAG60964,BAG63120,BAH13530,BAH14739 Hs.164324 TRIM70 OTTHUMP00000065215|OTTHUMP00000065216|tripartite motif protein 70|tripartite motif-containing 16-like|tripartite motif-containing protein 16-like protein|tripartite motif-containing protein 70 protein-coding 736909 TRIM17 tripartite motif-containing 17 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 68839,1580863 19358823,16344560,16189514,15489334,14702039,12477932,11331580,10894938,9792805,19549727,19472918 68839 51127 NM_016102,NM_001024940,NM_001134855,AL139288,AL670729,CH471098,AF156271,AK055426,AK301105,AK308774,AK316379,AW770403,BC023999,BC033788,BI825739,BI831987,BM563820,DA270450,DB031719,DC309740 NP_057186,NP_001020111,NP_001128327,CAI23334,CAH71674,EAW69872,EAW69873,EAW69874,EAW69875,EAW69876,AAD40286,BAG51516,BAG62704,BAH14750,AAH33788,Q5VST8,Q9Y577 Hs.121748 RBCC|RNF16|terf E3 ubiquitin-protein ligase TRIM17|OTTHUMP00000037902|OTTHUMP00000037903|OTTHUMP00000037904|RING finger protein terf|ring finger protein 16|testis RING finger protein|tripartite motif protein 17|tripartite motif-containing 17|tripartite motif-containing protein 17 protein-coding 1322189 TRIM2 tripartite motif-containing 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. Its function has not been identified. [provided by RefSeq] 1580863 11331580,16189514,12477932,15489334,11432975,19549727,19690564,9628581,20379614 23321 BC019242,BC025417,BC011052,NM_015271,AC013477,AC114791,CH471056,AB011089,AF220018,AK000179,AK308731,AL110178,AL110234,BC005016,NM_001130067,GN088456,GN337716 AAH11052,Q9C040,NP_001123539,NP_056086,EAX04960,EAX04961,EAX04962,EAX04963,BAA25443,AAG53472,CAB53687,AAH05016,CAX86997,CAY39311 Hs.435711 KIAA0517|RNF86 RING finger protein 86|tripartite motif protein 2|tripartite motif protein TRIM2|tripartite motif-containing 2|tripartite motif-containing protein 2 protein-coding 1345175 TRIM21 tripartite motif-containing 21 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq] 20628624,11461834,17156811,7832745,19265157,19201475,18845142,18641315,18420815,18361920,18272178,18071879,17552056,17400754,17118455,16906225,16880511,16775307,16670339,16630135,16472766,16403452,16356190,16316627,16297862,16200587,16189514,16095123,15916807,15489334,15342556,15324660,12646630,12477932,12127959,11331580,11263778,11251884,10785401,10022600,9933563,9373149,8882420,8625517,8125298,8094596,7713506,7561701,2450143,1985094,1610705,16828831,18312418,11971985,20936779,1985112,17579016,18029348,19615732,19675099,20013343,20627395,20224770,21045130,20668674 6737 NM_003141,AC009758,AF391283,CH471064,U01882,U13657,U13658,AK225564,AW575137,AY742713,BC010861,BP280435,BP288941,BU594670,M34551,M62800,FB775520 NP_003132,AAK76432,EAW68845,AAB87094,AAA79867,AAU89982,AAH10861,AAA36581,AAA36651,P19474,ABZ92235,CAV30717 Hs.532357 RNF81|RO52|SSA|SSA1 52 kDa Ro protein|52 kDa ribonucleoprotein autoantigen Ro/SS-A|E3 ubiquitin-protein ligase TRIM21|RING finger protein 81|SS-A|Sicca syndrome antigen A|Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)|ro(SS-A)|sjoegren syndrome type A antigen|tripartite motif-containing 21|tripartite motif-containing protein 21 protein-coding 1347688 TRIM22 tripartite motif-containing 22 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon's antiviral effects. [provided by RefSeq] 1580863 7797467,17156811,18029348,19585648,19481078,19218198,19212762,18656448,17970695,17567994,16926043,16713569,15489334,15203218,15064739,12539042,12477932,11331580,11096452,8661041,20211142,20980524,19943174,19902255,20001730,20006605 10346 NM_006074,AC109341,CH471064,AK290434,AK298715,AK298934,AK301192,AK308221,AK308796,AK310098,AL360134,AL360187,AL360190,AM040752,BC022281,BC035582,CD621768,CR593076,X82200,DC364428,NM_001199573 NP_006065,EAW68767,EAW68769,EAW68770,BAF83123,BAG60871,BAG61037,BAG62772,CAJ13842,AAH22281,AAH35582,CAA57684,Q4A1P5,Q8IYM9,ABM82127,ABM85310,EAW68768,NP_001186502 Hs.501778,Hs.684559 GPSTAF50|RNF94|STAF50 50 kDa-stimulated trans-acting factor|E3 ubiquitin-protein ligase TRIM22|OTTHUMP00000069826|RING finger protein 94|staf-50|stimulated trans-acting factor (50 kDa)|tripartite binding motif 22|tripartite motif protein TRIM22|tripartite motif-containing 22|tripartite motif-containing protein 22 protein-coding 1606340 TRIM23 tripartite motif-containing 23 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq] 8700863,8473324,15684077,9671726,19176615,16189514,15489334,12477932,11331580,10982851,10748148,9446556,9312116,19549727,20724660,19060904 373 NM_001656,NM_033227,NM_033228,AC008560,CH471137,AF230397,AF230398,AF230399,AI679928,AK292814,BC022510,BI859501,L04510 NP_001647,NP_150230,NP_150231,EAW51349,EAW51350,EAW51351,AAG50176,AAG50177,AAG50178,BAF85503,AAH22510,AAA35940,P36406,ABM84572,ABM86510 Hs.792 ARD1|ARFD1|RNF46 ADP-ribosylation factor domain protein 1, 64kDa|ADP-ribosylation factor domain-containing protein 1|ARF domain protein 1|E3 ubiquitin-protein ligase TRIM23|GTP-binding protein ARD-1|RING finger protein 46|tripartite motif protein TRIM23|tripartite motif-containing 23|tripartite motif-containing protein 23 protein-coding 1350727 TRIM24 tripartite motif-containing 24 The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 12684500,11313457,9115274,17287283,17081983,16643855,12690205,12393749,19197348,19909775,12677068,12477932,12096914,11986951,11851396,11518808,11331580,10935545,10610177,10598587,10562550,10439047,10318760,10022127,9632676,9191165,9016654,9774463,19556538,20211142,19690564 8805 NM_015905,NM_003852,AC008265,AC013429,CH236950,CH471070,CQ783904,AA844662,AF009353,AF119042,AK075306,AK127592,AK302679,AK312610,AL360186,BC028689,CB988362,CR600475,NG_023286,HC357204 NP_056989,NP_003843,EAL24046,EAL24047,EAW83884,EAW83885,EAW83886,CAF86917,AAB63585,AAD17258,BAG52105,BAC87048,BAG63911,AAH28689,O15164,Q6ZSA6,CBJ56868 Hs.490287 PTC6|RNF82|TF1A|TIF1|TIF1A|TIF1ALPHA|hTIF1 RING finger protein 82|TIF1-alpha|transcription intermediary factor 1-alpha|transcriptional intermediary factor 1|tripartite motif protein 24|tripartite motif-containing 24|tripartite motif-containing protein 24 protein-coding 1343933 TRIM25 tripartite motif-containing 25 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq] 1580863 15489334,15130519,12943693,12477932,12075357,11331580,10781795,9245730,8889548,7789997,20211142,19549727,8248217,18029348,18948594,18391951,17418098,17069755,16271083,16144914,15592455,20546612,11591653,16884686,17392790,19148513,19454344,19454348,20127022,11002417,16127453 7706 NM_005082,AC015912,CH471109,AB208994,AK024597,AK310720,BC013752,BC016924,BC038247,BC042541,BC053605,BC106889,BC106890,BC114339,BM146967,BX538220,CF121587,CR600776,CR617665,D21205 NP_005073,EAW94523,EAW94524,EAW94525,BAD92231,AAH16924,AAH42541,BAA04747,Q14258,Q59GW5 Hs.528952 EFP|RNF147|Z147|ZNF147 E3 ubiquitin/ISG15 ligase TRIM25|RING finger protein 147|estrogen-responsive finger protein|tripartite motif protein TRIM25|tripartite motif-containing 25|tripartite motif-containing protein 25|ubiquitin/ISG15-conjugating enzyme TRIM25|zinc finger protein 147 (estrogen-responsive finger protein)|zinc finger protein-147 protein-coding 1346405 TRIM26 tripartite motif-containing 26 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. 1580863 8530076,17713163,15489334,14702039,12477932,11331580,9624122,17643375,19851445,19394292,19549727,20593013 7726 AB088090,AB103596,AB202086,AL662782,AL662832,AL671855,AL844220,AL845450,BA000025,BX248419,NM_003449,BX927189,BX927221,CH471081,CR388382,CR759838,CR788282,AK096996,AK314782,BC021115,BC024039,BC032297,CB988131 NP_003440,BAC54923,BAF31258,BAE78607,CAI17497,CAI18235,CAI18614,CAI18615,CAI17701,BAB63330,CAM26023,CAQ09452,CAQ09454,CAQ10305,EAX03272,EAX03273,EAX03274,EAX03275,EAX03276,CAQ08631,CAQ11096,CAQ07461,AAH24039,AAH32297,Q12899,Q5SPU2,Q5SRL2 Hs.720054 AFP|RNF95|ZNF173 OTTHUMP00000161458|OTTHUMP00000161460|RING finger protein 95|acid finger protein|tripartite motif-containing 26|tripartite motif-containing protein 26|widely expressed acid zinc finger protein|zinc finger protein 173 protein-coding 1348872 TRIM26P tripartite motif-containing 26 pseudogene 10557312 404024 AB023053,AL662782,NG_023052,AL662832,AL844220,BX248419,BX927189,CR388382,CT009520 TRIM26P pseudo 1320820 TRIM27 tripartite motif-containing 27 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq] 1580863 3380101,9570750,15837424,3078962,2734021,10976108,17156811,19232840,16713569,16393995,16189514,16186106,15489334,14574404,14530259,12807881,12787916,12477932,12445133,11331580,10504338,9923704,8114113,3037315,1437549,16169070,9247190,16007160,19549727,17049487,19851445,19351825,20211142,20526338 5987 AL662871,BX000360,BX005144,BX119924,BX537153,CH471081,CR759942,CR936876,CR936883,CR936965,Z84474,Z84476,AB209885,AF230393,AF230394,AJ420519,BC013580,BC066924,CR617544,J03407,NM_006510,AF171101,AL662859 CAI18381,CAI18618,CAI18619,CAM25871,CAM25872,CAM26230,CAM26231,CAI18645,CAI18646,EAX03176,EAX03177,CAQ07942,CAQ07943,CAQ09162,CAQ09163,CAQ09164,CAQ10095,CAB06480,CAI19959,BAD93122,AAG50172,AAG50173,AAH13580,AAH66924,AAA36564,P14373,Q59EC6,Q9NZT8,ABM81908,ABM85082,NP_006501,AAF32265,CAI17553 Hs.440382 RFP|RNF76 RFP transforming protein|RING finger protein 76|ret finger protein|tripartite motif protein TRIM27|tripartite motif-containing 27|tripartite motif-containing protein 27|zinc finger protein RFP protein-coding 736265 TRIM28 tripartite motif-containing 28 The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq] 1580863 17141982,19690564,20936779,18676401,18590578,18488044,18381204,18060868,17942393,17704056,17542650,17512541,17353931,17178852,17081983,17079232,16964243,16954381,16792528,16169070,16107876,15882967,15635413,15596820,15489334,15302935,12684500,12682018,12477932,12438698,12154074,11959841,11336697,11331592,11331580,11230151,11226167,18854139,8769649,19321449,19279087,11154279,20424263,11013263,10938122,10748030,10562550,10347202,10330177,9774463,9742105,9373149,9016654,8986806,8125298,12411497,12096914,16945326,19394292,16568080,17643375,19584288,19656847,19710015,19850934,19898899,20032463,20081839,20085707,20221260 10155 NM_005762,AC016630,CH471135,AK131063,AK225760,AK313478,AL360114,AL360188,AL360189,BC004978,BC007390,BC052986,CR613705,U31657,U78773,U95040,X97548 NP_005753,EAW72605,EAW72606,EAW72607,BAG36262,AAH04978,AAH07390,AAH52986,AAA74954,AAB37341,AAB51517,CAA66150,Q13263 Hs.467408 FLJ29029|KAP1|RNF96|TF1B|TIF1B KAP-1|KRAB-associated protein 1|KRAB-interacting protein 1|KRIP-1|RING finger protein 96|TIF1-beta|nuclear corepressor KAP-1|transcription intermediary factor 1-beta|transcriptional intermediary factor 1-beta|tripartite motif protein 28|tripartite motif-containing 28|tripartite motif-containing protein 28 protein-coding 1317296 TRIM29 tripartite motif-containing 29 The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq] 1580863 20454669,16189514,8188213,19249679,17448597,16964243,16890201,15489334,15231748,14702039,12477932,10719033,9373149,8647648,8406440,8125298,7836856,7644499,7530755,1609804,19430419,20083228,20368352,20379614,11331580,20211142,20947501 23650 NM_012101,AP000679,AP001360,CH471065,AF230388,AF230389,AK093404,AK122720,AK223090,AK299459,AK299472,AK303969,AL832678,BC010644,BC017352,CR591524,CR609266,CR612298,L24203 NP_036233,EAW67497,EAW67498,EAW67499,EAW67500,AAG50167,AAG50168,BAD96810,BAH13041,BAH13044,BAH14085,AAH10644,AAH17352,AAA35762,Q0P6H7,Q14134,Q53G41,ABZ92472 Hs.504115 ATDC|FLJ36085 ataxia telangiectasia group D-associated protein|ataxia-telangiectasia group D-associated protein|tripartite motif protein TRIM29|tripartite motif-containing 29|tripartite motif-containing protein 29 protein-coding 731725 TRIM3 tripartite motif-containing 3 The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq] 68906,1580863 20173306,17081983,15772161,14702039,12477932,11331580,11170753,10673389,11513855,19690564,10391919,19250537,19165527,19460345,20543135 68906 10612 GN088458,GN337718,NM_033278,NM_006458,AC084337,CH471064,AF045239,AF220020,AF220021,AF220022,AK122682,AK126685,AK291396,AK298843,AK299586,AK311127,AL122053,AL360185,AL360192,BC096827,BI916995,BU500178 CAX86998,CAY39312,NP_150594,NP_006449,EAW68709,EAW68710,EAW68711,EAW68712,EAW68713,EAW68714,EAW68715,EAW68716,EAW68717,AAC24809,AAG53474,AAG53475,AAG53476,BAG53665,BAC86643,BAF84085,BAH12882,BAH13074,AAH96827,O75382,Q6ZTE7 Hs.591992 BERP|FLJ16135|HAC1|RNF22|RNF97 RING finger protein 97|brain expressed ring finger|brain-expressed RING finger protein|ring finger protein 22|tripartite motif protein 3|tripartite motif protein TRIM3|tripartite motif-containing 3|tripartite motif-containing protein 3 protein-coding 1318479 TRIM31 tripartite motif-containing 31 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to both the cytoplasm and the nucleus. Its function has not been identified. [provided by RefSeq] 1580863 16702430,16341674,15489334,14759258,14574404,12477932,11331580,9373149,8490624,8125298,16189514,16712791,19549727,19851445,20125193,20211142 11074 AB202083,AL669914,AL671859,BX005441,BX322644,BX897730,CH471081,CR759801,NM_007028,CR759838,CR925727,CT009552,AB303153,AF230386,AF230387,AK222729,AK290270,BC016866,BC017017,BM847963,BT006675,CB142265,CB147821,X81006,Y07828,BX088647,CR753815 NP_008959,BAE78603,CAI18183,CAI17583,CAM26234,CAI18447,CAM26290,EAX03257,EAX03258,EAX03259,EAX03260,EAX03261,EAX03262,EAX03263,CAQ06842,CAQ11088,CAQ06668,CAQ10627,BAH58735,AAG50165,AAG50166,BAD96449,BAF82959,AAH16866,AAH17017,AAP35321,CAA69165,Q2L6J1,Q9BZY9,ABM85542 Hs.493275 C6orf13|HCG1|HCGI|RNF E3 ubiquitin-protein ligase TRIM31|ring finger protein|tripartite motif-containing 31 gamma|tripartite motif-containing protein 31 protein-coding 1313150 TRIM32 tripartite motif-containing 32 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq] 1580863,1624127,1624129 19913121,20628086,19549727,7778269,16189514,19349376,19303295,18632609,17994549,17987106,16816390,16713569,16606853,15786463,15489334,15164053,12477932,11822024,11331580,9634523,15778465,19060904,19492423,19690564,20054338,20801516 1624127,1624129 22954 NM_012210,NM_001099679,NG_011619,AL133284,CH471090,AK314264,BC003154,BI544919,BX091494,CR597365,CR605953,CR610656,DN991209,U18543,GN088454,GN337714 NP_036342,NP_001093149,CAB92723,CAI16372,EAW87446,EAW87447,AAH03154,AAA86474,Q13049,Q5JVY0,ABM84007,ABM87341,CAX86996,CAY39310 Hs.591910 BBS11|HT2A|LGMD2H|TATIP 72 kDa Tat-interacting protein|E3 ubiquitin-protein ligase TRIM32|OTTHUMP00000022763|OTTHUMP00000022764|TAT-interactive protein, 72-KD|tripartite motif-containing 32|tripartite motif-containing protein 32|zinc finger protein HT2A|zinc-finger protein HT2A protein-coding 1316478 TRIM33 tripartite motif-containing 33 The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq] 1580863 20603019,20447379,11331580,10470851,10439047,14527417,15820681,19135894,10022127,16751102,16710414,15146197,14702039,12096914,18029348,19629168 51592 NG_023287,NM_033020,NM_015906,AL035410,AL390241,CH471122,AB029036,AF119043,AF220136,AF220137,AJ132948,AK021491,AK023434,AK057487,AK301997,AL080216,CN267696 NP_148980,NP_056990,CAI21895,CAI21896,CAI21897,CAI13548,CAI13550,CAI13551,EAW56599,EAW56600,EAW56601,BAA83065,AAD17259,AAG53509,AAG53510,CAB55313,BAB13834,BAG51192,BAG63401,Q9HAL0,Q9UPN9 Hs.26837 ECTO|FLJ32925|PTC7|RFG7|TF1G|TIF1G|TIF1GAMMA|TIFGAMMA E3 ubiquitin-protein ligase TRIM33|OTTHUMP00000013664|RET-fused gene 7 protein|TIF1-gamma|ectodermin homolog|protein Rfg7|transcription intermediary factor 1-gamma|transcriptional intermediary factor 1 gamma|tripartite motif-containing 33|tripartite motif-containing protein 33 protein-coding 1322062 TRIM34 tripartite motif-containing 34 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Expression of this gene is up-regulated by interferon. This gene is mappped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternate splicing of this gene generates four transcript variants. Additionally, a read-through transcript transcribed from this gene and TRIM6 has been observed. [provided by RefSeq] 17156811,16344560,14702039,11331580,11013086,16828831,16775307,19549727,19690564,18159944 53840 NM_001003827,NM_021616,NM_130389,NM_130390,AC015691,CH471064,AB039902,AB039904,AF220143,AF220144,AK027876,AL583914,BM989990,DA847894,BG682537,DB024660 NP_001003827,NP_067629,NP_569073,NP_569074,EAW68778,EAW68779,EAW68780,BAB17049,BAB17051,AAG53516,AAG53517,BAB55424,CAC29498,Q9BYJ4,AAI56771 Hs.125300 IFP1|RNF21 OTTHUMP00000069809|OTTHUMP00000069810|interferon-responsive finger protein 1|ring finger protein 21, interferon-responsive|tripartite motif-containing 34|tripartite motif-containing protein 34 protein-coding 1344257 TRIM35 tripartite motif-containing 35 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq] 1580863 19549727,19690564,15489334,14662771,12692137,12477932,11331580,10470851,18029348 23087 NM_171982,AC124649,CH471080,AB029021,AF492463,AK308236,BC018337,BC069226 NP_741983,EAW63557,EAW63558,EAW63559,EAW63560,BAA83050,AAO85480,AAH18337,AAH69226,Q9UPQ4,ABZ92310 Hs.104223 HLS5|KIAA1098|MAIR|MGC17233 hemopoietic lineage switch protein 5|tripartite motif-containing 35|tripartite motif-containing protein 35 protein-coding 1318648 TRIM36 tripartite motif-containing 36 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq] 1580863 19232519,15955891,15145053,12477932,11331580,20379614,19549727 55521 NM_018700,NM_001017397,NM_001017398,AC008494,AC094104,CH471086,AB196558,AI142389,AJ272269,AK058179,AK125426,AK296389,AK316422,BC017346,BC045164,BC046096,BC130334,BF592910 NP_061170,NP_001017397,NP_001017398,EAW48971,EAW48972,BAD99605,CAB94831,BAH12340,BAH14793,AAH45164,AAH46096,AAI30335,Q0P5Z9,Q4R1Q4,Q9NQ86 Hs.519514,Hs.638953 HAPRIN|RBCC728|RNF98 E3 ubiquitin-protein ligase TRIM36|OTTHUMP00000222915|OTTHUMP00000222917|OTTHUMP00000222918|RING finger protein 98|tripartite motif protein 36|tripartite motif-containing 36|tripartite motif-containing protein 36|zinc-binding protein Rbcc728 protein-coding 1318066 TRIM37 tripartite motif-containing 37 This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580863,1599667 16189514,19329943,17551331,17100991,17081983,16713569,16310976,16306379,15885686,15489334,15146197,15108285,14702039,12754710,12477932,11938494,11578880,11331580,11279055,10888877,10048485,9106536,19447967,19549727,19690564 1599667 4591 DC351295,NM_001005207,NM_015294,NG_009298,AC005207,AC036154,AC099850,AC100832,CH471109,AB020705,AF213365,AI307801,AK022701,AK025648,AK289674,AK292459,AK294850,BC036012,BG722700,BQ447834,BX537955,CN388771,CR606792,CR621658 O94972,NP_001005207,NP_056109,EAW94424,EAW94425,EAW94426,EAW94427,BAA74921,AAL36460,BAG51105,BAF82363,BAF85148,BAG57954,AAH36012,CAD97922 Hs.579079 KIAA0898|MUL|POB1|TEF3 E3 ubiquitin-protein ligase TRIM37|RING-B-box-coiled-coil protein|mulibrey nanism protein|tripartite motif-containing 37|tripartite motif-containing protein 37 protein-coding 1349740 TRIM38 tripartite motif-containing 38 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq] 1580863 12761501,19084217,15489334,12477932,11854271,11331580,9149941,19690564 10475 NM_006355,CH471087,U91328,AB209906,AK313248,BC026930,BX640949,CR607808,CR936707,U90547 NP_006346,EAW55501,EAW55502,EAW55503,EAW55504,EAW55505,EAW55506,AAB82084,BAD93143,BAG36059,AAH26930,CAE45973,AAB53425,O00635,Q59EA5,Q6MZQ5,ABM85844,ABW03748,ACE87334,ACE86652 Hs.584851 MGC8946|RNF15|RORET OTTHUMP00000016131|Ro/SSA ribonucleoprotein homolog|ring finger protein 15|tripartite motif-containing 38|tripartite motif-containing protein 38|zinc finger protein RoRet|zinc-finger protein RoRet protein-coding 1345253 TRIM39 tripartite motif-containing 39 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 16189514,19100260,17601797,16344560,16094384,15489334,12477932,11331580,11006080,20875797,17474147,19094064,19851445,19549727 56658 NM_021253,NM_172016,AB110937,AB110938,CR759281,CR759928,AB046381,AI159923,AK292512,BC007661,BC034985,BT007370,DB071507,AL662795,AL662832,AL773535,BX248580,BX927214,CH471081,AB202089,BX294158 NP_067076,NP_742013,BAD13703,BAD13704,CAQ09020,CAQ09021,CAQ08313,CAQ08314,BAB16374,BAF85201,AAH07661,AAH34985,AAP36034,Q59G25,Q5STG3,Q9HCM9,BAE78608,CAI18251,CAI18252,CAI17501,CAI17502,CAI41818,CAI41819,CAM25899,CAM25900,CAQ08383,CAQ08384,EAX03283,EAX03284,EAX03285,EAX03286 Hs.413493 MGC32984|RNF23|TFP|TRIM39B OTTHUMP00000029075|OTTHUMP00000029076|OTTHUMP00000163588|ring finger protein 23|testis-abundant finger protein|tripartite motif-containing 39|tripartite motif-containing protein 39 protein-coding 1351905 TRIM4 tripartite motif-containing 4 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq] 1580863 16314882,17156811,15489334,14702039,12853948,12690205,12477932,11331580,18029348,19658100 89122 NM_033017,NM_033091,NG_000004,AC011904,CH236956,CH471091,AF220023,AF220024,AK092892,AK293565,BC011763,BC025949,CR609720 NP_148977,NP_149082,AAS07396,AAS07397,AAS07398,EAL23864,EAL23865,EAW76625,EAW76626,EAW76627,EAW76628,AAG53477,AAG53478,BAG52624,BAG57036,AAH11763,AAH25949,Q9C037 Hs.50749 RNF87 OTTHUMP00000210301|RING finger protein 87|tripartite motif protein 4|tripartite motif protein TRIM4 isoform alpha; tripartite motif protein TRIM4; tripartite motif protein 4|tripartite motif-containing 4|tripartite motif-containing protein 4 protein-coding 1346356 TRIM40 tripartite motif-containing 40 20593013,19851445,16702430,15489334,12477932 135644 BX005441,CR753815,CR759838,NM_138700,AB110939,AB110940,AB202084,AL669914,BX322644,BX927221,CH471081,CR788282,AF489517,BC060785,CB990357,CR597973,AL671859 CAQ11089,CAQ11090,NP_619645,BAD13705,BAD13706,BAE78604,CAI18185,CAI17585,CAM24935,CAI18448,CAQ10306,CAQ10307,EAX03265,EAX03266,CAQ07454,CAQ07455,AAM09503,AAH60785,Q6P9F5,ABZ92099 Hs.509439 RNF35 OTTHUMP00000029098|RING finger protein 35|ring finger RNF35|ring finger protein 40|tripartite motif-containing 40|tripartite motif-containing protein 40 protein-coding 1318911 TRIM41 tripartite motif-containing 41 TRIM41 belongs to a family of tripartite motif (TRIM) proteins defined as containing a RING finger, one or more B-box domains, and a coiled-coil region (Tanaka et al., 2005 [PubMed 16022281]). See TRIM45 (MIM 609318).[supplied by OMIM] 1580863 16169070,17893151,16565220,16189514,16022281,15498874,15489334,14702039,12477932,11549288,19549727,20098747 90933 NM_201627,AC008443,CH471165,AB063180,AB100366,AB100367,AF258579,AK027601,AK074052,AK307695,AL137593,AL832960,BC004956,BC009762,BC018765,NM_033549,BC090953,BC111568,BC127195,BM457526,BX396615,CA430637,CR457349,BC071887 NP_291027,NP_963921,EAW53707,EAW53708,EAW53709,EAW53710,EAW53711,EAW53712,EAW53713,EAW53714,BAB70617,BAD07472,BAD07473,AAG23782,BAG51358,BAB84878,CAB70832,CAH56279,AAH04956,AAH09762,AAH18765,AAH71887,AAH90953,AAI27196,CAG33630,Q658W3,Q8TES0,Q8WV44,Q9NT12,ABM83446 Hs.441488 MGC1127|MGC31991|RINCK E3 ubiquitin-protein ligase TRIM41|OTTHUMP00000223701|OTTHUMP00000223702|RING finger-interacting protein with C kinase|RING-finger protein that interacts with C kinase|tripartite motif-containing 41|tripartite motif-containing protein 41 protein-coding 1353293 TRIM42 tripartite motif-containing 42 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq] 1580863 18029348,14702039,11331580,12477932,19010793,20379614 287015 NM_152616,AC026324,CH471052,AF521868,AK097416,AK310536,AL833848,BC130472,BC130474,BX093220,DC397052 NP_689829,EAW79015,AAO14945,BAC05042,CAD38707,AAI30473,AAI30475,Q8IWZ5 Hs.343487 FLJ40097|MGC163346 tripartite motif-containing 42|tripartite motif-containing protein 42 protein-coding 1353905 TRIM43 tripartite motif-containing 43 1580863 12477932,15489334,19549727,19690564 129868 NM_138800,AC009237,CH471207,BC015353 NP_620155,AAY14782,EAW71320,AAH15353,Q96BQ3,ABZ92545 Hs.232026 tripartite motif-containing 43|tripartite motif-containing protein 43 protein-coding 2311728 TRIM43B tripartite motif-containing 43B 15815621 653192 NM_001164464,AC009237 NP_001157936,A6NCK2 Hs.723811 Tripartite motif-containing protein 43-like protein 1|tripartite motif-containing 43B|tripartite motif-containing protein 43B protein-coding 1312571 TRIM44 tripartite motif-containing 44 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq] 1580863 19358823,16554811,16344560,16341674,15489334,14702039,12477932,11331580,11165382,10568747,17577209,19875103,20379614 54765 NM_017583,AC026970,AC090692,AL138812,CH471064,AJ249128,AK021823,AK074242,BC013166,BC024031,BM787577,DA131915,DA208113 NP_060053,EAW68133,EAW68134,EAW68135,CAB65108,AAH13166,AAH24031,Q96DX7,ABM81987,ABM85167 Hs.192103 DIPB|HSA249128|MC7|MGC3490 tripartite motif-containing 44|tripartite motif-containing protein 44 protein-coding 1319359 TRIM45 tripartite motif-containing 45 This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described. 1580863 18673550,16710414,15489334,15351693,14702039,12477932,9373149,8125298 80263 NM_025188,NM_001145635,AL391476,CH471122,AK023243,AK222901,AY669488,BC034943,BU165629,CR595070,CR602755,EC541819,NG_028008 NP_079464,NP_001139107,CAI12733,CAI12734,CAI12735,EAW56668,EAW56669,BAB14484,BAD96621,AAT76864,AAH34943,Q5T2K3,Q9H8W5,ABZ92546 Hs.301526 FLJ13181|RNF99 ring finger protein 99|tripartite motif-containing 45|tripartite motif-containing protein 45 protein-coding 1314352 TRIM46 tripartite motif-containing 46 1580863 16434393,15489334,14702039,12477932,9373149,8125298,16169070,19549727 80128 NM_025058,AL607067,AL713999,CH471121,AK026882,AK096158,AK128139,AK225075,AK308075,AK309699,AK310429,AY251386,BC069416,BC069568,BC126372,BC143828,CR601445,AK296300,AK297318,AK304542 Q7Z4K8,NP_079334,CAH71197,CAH71198,CAH71199,CAI95070,CAI95081,CAI95082,CAI95083,EAW53120,EAW53121,EAW53122,EAW53123,BAB15580,BAC87293,AAP51206,AAH69416,AAH69568,AAI26373,Q5VT61,BAH12308,BAH12545,BAH14211 Hs.287735 FLJ23229|GENEY|TRIFIC OTTHUMP00000033783|gene Y protein|tripartite motif-containing 46|tripartite motif-containing protein 46|tripartite, fibronectin type-III and C-terminal SPRY motif protein protein-coding 1322764 TRIM47 tripartite motif-containing 47 1580863 17081983,16964243,15489334,12477932,11511098,19690564 91107 NM_033452,AC087289,CH471099,AY026763,BC006153,BC009225,BC017299,BG385464 NP_258411,EAW89330,EAW89331,EAW89332,AAK07687,AAH06153,AAH09225,AAH17299,Q96AD0,Q96LD4 Hs.293660 GOA|RNF100 RING finger protein 100|gene overexpressed in astrocytoma protein|tripartite motif-containing 47|tripartite motif-containing protein 47 protein-coding 1343096 TRIM48 tripartite motif-containing 48 1580863 15489334,12477932 79097 NM_024114,AP005597,CH471076,AF521869,BC001862 NP_077019,EAW73670,EAW73671,AAO14946,AAH01862,Q8IWZ4,ABZ92054 Hs.195715 MGC4827|RNF101 RING finger protein 101|tripartite motif-containing 48|tripartite motif-containing protein 48 protein-coding 1352670 TRIM49 tripartite motif-containing 49 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. [provided by RefSeq] 15489334,12477932,11018261,16554811 57093 NM_020358,AP004833,CH471064,AB037682,BC075019,BC075020,BC126472 NP_065091,EAW67863,BAB03503,AAH75019,AAH75020,AAI26473,ABZ92357,ADR82876,P0CI25,P0CI26 Hs.534218 RNF18 ring finger protein 18|testis-specific RING Finger protein|testis-specific ring-finger protein|tripartite motif-containing 49|tripartite motif-containing protein 49 protein-coding 3302193 TRIM49L tripartite motif-containing 49-like 729384 AP004607,CH878633,NM_001105522 C9J1S8,EAW50795,NP_001098992 Hs.705301 TRIM49L tripartite motif protein 49-like|tripartite motif-containing 49-like|tripartite motif-containing 49-like 1|tripartite motif-containing protein 49-like protein-coding 4143019 TRIM49L2 tripartite motif-containing 49-like 2 12477932 653111 AP004607,BC126470,NM_001195234,XM_926073 AAI26471,NP_001182163,XP_931166 Hs.728713 MGC161748 tripartite motif-containing 49-like|tripartite motif-containing 49-like 2 protein-coding 1343210 TRIM5 tripartite motif-containing 5 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Five alternatively spliced transcript variants for this gene have been described. However, the full length nature of two of the variants has not been determined. [provided by RefSeq] 16828831,15994791,20211142,20810659,20493962,21035162,12878161,15919943,15967037,19153241,19056509,18799578,18613956,18586294,18524394,18497858,18312418,18248091,18166079,17609277,17588933,17543365,17406861,17392513,17156811,17135314,17087820,17028189,16973579,16956947,16912305,16887163,16809279,16808955,16643975,16624363,16501094,16474153,16474118,16472833,16401428,16289103,16254380,16226405,15767395,15709033,15649369,15489334,15280539,15249690,15249687,15249685,14985764,14702039,12477932,11331580,17083721,19943174,20588169,20619429,17207965,15146197,16344560,16498413,19388851,19577266,19710594,19741300,19902255,20001730,20049904,20053985,20357094,19549727,20609213,20702630 85363 NM_033093,NM_033092,AC015691,AC109341,CH471064,DQ301444,DQ301445,DQ301446,DQ301447,DQ301448,DQ301449,NM_033034,DQ301450,DQ301451,DQ301452,DQ301453,DQ301454,DQ301455,DQ301456,DQ301457,DQ301458,DQ301459,DQ301460,DQ301461,DQ301462,DQ301463,DQ301464,DQ301465,DQ301466,DQ301467,DQ301468,DQ301469,DQ301470,DQ301471,DQ301472,DQ301473,DQ301474,DQ301475,DQ301476,DQ301477,DQ301478,DQ301479,DQ301480,EU260465,AB362928,AF220025,AF220026,AF220027,AF220028,AF220029,AK027593,AK074363,AY625000,BC020770,BC021258,BX647152,CR616862,DQ288685,CN334837,DA475412 NP_149023,NP_149084,NP_149083,EAW68771,EAW68772,EAW68773,EAW68774,EAW68775,EAW68776,EAW68777,ABC00997,ABC00998,ABC00999,ABC01000,ABC01001,ABC01003,ABC01004,ABC01005,ABC01006,ABC01007,ABC01008,ABC01009,ABC01010,ABC01011,ABC01012,ABC01013,ABC01014,ABC01015,ABC01016,ABC01017,ABC01018,ABC01019,ABC01020,ABC01021,ABC01022,ABC01023,ABC01024,ABC01025,ABC01026,ABC01027,ABC01028,ABC01029,ABC01030,ABC01031,ABC01032,ABC01033,ABC01002,ABW96352,BAG16811,AAG53479,AAG53480,AAG53481,AAG53482,AAG53483,BAB55218,AAT48101,AAH20770,AAH21258,ABB90543,Q05CU3,Q9C035,ADQ31737 Hs.370515 RNF88|TRIM5alpha OTTHUMP00000069812|OTTHUMP00000069814|OTTHUMP00000197100|ring finger protein 88|tripartite motif protein TRIM|tripartite motif protein TRIM5|tripartite motif-containing 5|tripartite motif-containing protein 5 protein-coding 735660 TRIM50 tripartite motif-containing 50 1580863 18398435,14702039,12853948,12477932,18029348 135892 NM_178125,AC073841,AK057366,AK292074,AY081948,AY081949,BC112152,BC112154,BC143787 NP_835226,BAF84763,AAL91071,AAL91072,AAI12153,AAI12155,AAI43788,Q2M204,Q86XT4 Hs.647053 FLJ32804|MGC138357|MGC138359|TRIM50A E3 ubiquitin ligase|E3 ubiquitin-protein ligase TRIM50|tripartite motif protein 50|tripartite motif-containing 50|tripartite motif-containing 50A|tripartite motif-containing protein 50 protein-coding 1347364 TRIM52 tripartite motif-containing 52 1580863 15489334,14702039,12477932 84851 NM_032765,AC008443,CH471165,AB209243,AK026706,AK054802,BC007372 NP_116154,EAW53703,EAW53704,EAW53705,BAD92480,BAB70809,AAH07372,Q59G66,Q96A61,ABZ92073 Hs.458412 MGC16175|RNF102 RING finger protein 102|tripartite motif-containing 52|tripartite motif-containing protein 52 protein-coding 1344917 TRIM53 tripartite motif-containing 53 642569 CA449274,NR_028346,AP004607 Hs.647272 pseudo 2311723 TRIM53L tripartite motif-containing 53-like 16554811 642425 NG_012754,AP004833 A6NNF0 TRIM53L pseudo 1354245 TRIM54 tripartite motif-containing 54 The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq] 19690564,11243782,15815621,10953002,10737800,11927605,16344560,12477932 57159 AJ291714,AK300699,BC141807,BF829678,BU633919,CA423735,DA897004,NM_032546,NM_187841,AC013413,CH471053 EAX00606,EAX00607,CAC32841,CAC32842,AAI41808,Q9BYV2,BAG62380,NP_115935,NP_912730,AAY24296 Hs.516036 MURF|MURF-3|RNF30 OTTHUMP00000122598|muRF3|muscle-specific RING finger protein 3|muscle-specific RING-finger protein 3|ring finger protein 30|tripartite motif-containing 54|tripartite motif-containing protein 54 protein-coding 1603290 TRIM55 tripartite motif-containing 55 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 19549727,11243782,15802564,15489334,14702039,12477932,12414993,11927605,15967462,15782160,20379614 84675 AK091310,BT007212,NM_184085,NM_184086,NM_184087,AC090195,CH471068,AJ243488,AJ243489,AJ277493,AJ291712,AJ431704,NM_033058,AK091728,BC007750 NP_149047,NP_908973,NP_908974,NP_908975,EAW86893,EAW86894,EAW86895,CAC43019,CAC43020,CAC81835,CAC32839,CAC32840,CAD24432,AAP35876,Q9BYV6,BAG52332,BAG52405,AAH07750 Hs.85524 MURF-2|RNF29 muRF2|muscle specific ring finger 2|muscle-specific RING finger protein 2|ring finger protein 29|tripartite motif-containing 55|tripartite motif-containing protein 55 protein-coding 1342742 TRIM56 tripartite motif-containing 56 1580863 19690564,17081983,15489334,14702039,12853948,12477932,21074459 81844 NM_030961,AC105446,CH471197,AK075255,AL512757,BC005847,BC011882,BC048194 NP_112223,EAW50193,BAC11500,CAC21676,AAH05847,AAH11882,AAH48194,Q9BRZ2,ABZ92066 Hs.521092 DKFZp667O116|FLJ35608|RNF109 RING finger protein 109|tripartite motif-containing 56|tripartite motif-containing protein 56 protein-coding 1352069 TRIM57 tripartite motif-containing 57 353185 1349557 TRIM58 tripartite motif-containing 58 20139978,15489334,14702039,12477932 25893 NM_015431,AC099571,AF327057,AK096188,BC074748,BX644877,DN998591 NP_056246,AAM63958,AAH74748,Q8NG06 Hs.323858 BIA2|DKFZp434C091 tripartite motif-containing 58|tripartite motif-containing protein 58 protein-coding 1349912 TRIM59 tripartite motif-containing 59 1580863 15941852,15489334,12477932,12095697 286827 NM_173084,AC024221,CH471052,AI215011,AK291284,AY159379,BC109259,BC109260,BX537987 NP_775107,EAW78635,EAW78636,EAW78637,EAW78638,BAF83973,AAN86853,AAI09260,AAI09261,CAD97947,Q7Z3C3,Q8IWR1 Hs.212957 MGC129860|MGC129861|MGC26631|MRF1|RNF104|TRIM57|TSBF1 OTTHUMP00000213883|OTTHUMP00000213884|OTTHUMP00000213886|OTTHUMP00000213887|RING finger 1-like|RING finger protein 104|tripartite motif-containing 57|tripartite motif-containing 59|tripartite motif-containing protein 59|tumor suppressor TSBF-1|tumor suppressor TSBF1 protein-coding 1316640 TRIM6 tripartite motif-containing 6 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A read-through transcript transcribed from this gene and TRIM34 has been observed. [provided by RefSeq] 1580863 17156811,16775307,16498413,15489334,14702039,12477932,11331580,11013086,16828831,16344560,18159944 117854 NM_001003818,AC015691,CH471064,AF220030,AK023210,AK027664,AK290172,AK293295,AK298301,AK316178,AK316289,NM_058166,BC047564,BC065575,BG776117,CR624250,CR749260,DA401634,DB233046,DC354457,NM_001198644,NM_001198645 NP_477514,NP_001003818,EAW68782,EAW68783,AAG53484,BAB55276,BAF82861,BAG56816,BAG60556,BAH14549,BAH14660,AAH47564,AAH65575,CAH18116,Q68DV4,Q6P0L0,Q9C030,EAW68785,NP_001185573,NP_001185574 Hs.125300 RNF89 OTTHUMP00000069819|OTTHUMP00000197092|OTTHUMP00000220648|OTTHUMP00000220649|OTTHUMP00000220650|RING finger protein 89|tripartite motif-containing 6|tripartite motif-containing protein 6 protein-coding 1604884 TRIM6-TRIM34 TRIM6-TRIM34 readthrough transcript The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene represents a read-through transcript transcribed from genes TRIM6 and TRIM34, and it was described as a splice variant of TRIM34. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. [provided by RefSeq] 16775307,12477932,11013086,20967262,16344560 445372 NM_001003819,AC015691,AB039903,BG721109,CX760618,AW516211 NP_001003819,BAB17050 Hs.125300 IFP1|RNF21|TRIM34 interferon-responsive finger protein 1|interferon-responsive finger protein 1 long form|tripartite motif-containing 6 and tripartite motif-containing 34 protein-coding 1350779 TRIM60 tripartite motif-containing 60 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq] 19240061,15489334,14702039,12477932,8744354 166655 NM_152620,AC106872,CH471056,AK093201,BC100983,BC100984,BC100985,BC100986 NP_689833,EAX04827,BAC04093,AAI00984,AAI00985,AAI00986,AAI00987,Q495X7 Hs.368004 FLJ35882|MGC119325|RNF129|RNF33 OTTHUMP00000219952|OTTHUMP00000219953|OTTHUMP00000219954|ring finger protein 129|ring finger protein 33|tripartite motif-containing 60|tripartite motif-containing protein 60 protein-coding 4108684 TRIM60P10Y tripartite motif-containing 60 pseudogene 10, Y-linked 100420376 AC025735,NG_004755 TRIM60P10|TRIM60PY10 pseudo 4108683 TRIM60P11Y tripartite motif-containing 60 pseudogene 11, Y-linked 100420377 AC025735,NG_004755 TRIM60P11|TRIM60PY11 pseudo 4108681 TRIM60P12Y tripartite motif-containing 60 pseudogene 12, Y-linked 100420378 AC006386,NG_004755 TRIM60P12|TRIM60PY12 pseudo 3436166 TRIM60P13 tripartite motif-containing 60 pseudogene 13 100132195 AL354997,NG_022984 pseudo 2947040 TRIM60P14 tripartite motif-containing 60 pseudogene 14 653794 AC106872,NG_022090 pseudo 3160458 TRIM60P15 tripartite motif-containing 60 pseudogene 15 100420405 AC021451,NG_022417 pseudo 3160456 TRIM60P16 tripartite motif-containing 60 pseudogene 16 100420412 AC095038,NG_022536 pseudo 3160457 TRIM60P17 tripartite motif-containing 60 pseudogene 17 100420414 AC115220,NG_022562 pseudo 3160455 TRIM60P18 tripartite motif-containing 60 pseudogene 18 100420415 AC073270,NG_022564 pseudo 3184139 TRIM60P1Y tripartite motif-containing 60 pseudogene 1, Y-linked 100420362 AC007275,NG_021907 TRIM60P1|TRIM60PY1 pseudo 3184140 TRIM60P2Y tripartite motif-containing 60 pseudogene 2, Y-linked 100420363 AC010678,NG_021908 TRIM60P2|TRIM60PY2 pseudo 3184138 TRIM60P3Y tripartite motif-containing 60 pseudogene 3, Y-linked 100420364 AC025731,NG_021909 TRIM60P3|TRIM60PY3 pseudo 3184137 TRIM60P4Y tripartite motif-containing 60 pseudogene 4, Y-linked 100420367 AC016911,NG_021923 TRIM60P4|TRIM60PY4 pseudo 3184123 TRIM60P5Y tripartite motif-containing 60 pseudogene 5, Y-linked 100420368 AC016698,NG_021927 TRIM60P5|TRIM60PY5 pseudo 3184141 TRIM60P6Y tripartite motif-containing 60 pseudogene 6, Y-linked 100420369 AC006338,NG_021928 TRIM60P6|TRIM60PY6 pseudo 3184099 TRIM60P7Y tripartite motif-containing 60 pseudogene 7, Y-linked 100420370 AC006338,NG_021929 TRIM60P7|TRIM60PY7 pseudo 4108682 TRIM60P8Y tripartite motif-containing 60 pseudogene 8, Y-linked 100420373 NG_004755,AC006366 TRIM60P8|TRIM60PY8 pseudo 4108685 TRIM60P9Y tripartite motif-containing 60 pseudogene 9, Y-linked 100420374 AC010088,NG_004755 TRIM60P9|TRIM60PY9 pseudo 1354030 TRIM61 tripartite motif-containing 61 15994318,15489334,15146197,12477932 391712 NM_001012414,AC106872,AK296100,BC089393,CN311322 NP_001012414,BAG58853,AAH89393,Q5EBN2 Hs.654633 FLJ60274|MGC102996|RNF35 putative tripartite motif-containing protein 61|ring finger protein 35|tripartite motif-containing 61 protein-coding 1346151 TRIM62 tripartite motif-containing 62 737633,1580863 19536326,16710414,16344560,15489334,15231748,14702039,12477932,8889548,19536324,20379614 737633 55223 NM_018207,AL662907,CH471059,AK001621,AK122896,AK300177,BC001222,BC007999,BC011689,BC012152,BM722392,CR592910,CX872720,DA338982 NP_060677,CAH70401,CAH70402,EAX07465,EAX07466,EAX07467,BAA91792,BAG53787,BAG61956,AAH01222,AAH07999,AAH11689,AAH12152,Q5VSX7,Q9BVG3 Hs.656006 DEAR1|FLJ10759|FLJ16558 OTTHUMP00000004290|ductal epithelium-associated RING Chromosome 1|tripartite motif-containing 62|tripartite motif-containing protein 62 protein-coding 1345707 TRIM63 tripartite motif-containing 63 This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is localized to the Z-line and M-line lattices of myofibrils, where titin's N-terminal and C-terminal regions respectively bind to the sarcomere. In vitro binding studies have shown that this protein also binds directly to titin near the region of titin containing kinase activity. Another member of this protein family binds to microtubules. Since these family members can form heterodimers, this suggests that these proteins may serve as a link between titin kinase and microtubule-dependent signal pathways in muscle. [provided by RefSeq] 19690564,11243782,11927605,19533653,18795805,18612045,18468620,17977773,17971512,17901116,17478621,16710414,15967462,15601779,15489334,14702039,12477932,12414993,12107412,11679633,11283016,18222470,19850579,19859778 84676 NM_032588,AL391650,CH471059,AF353673,AF361946,AJ276484,AK056942,AK297820,BC080529,BT007373 NP_115977,CAI17133,EAX07848,AAK39519,AAK52497,CAC81706,BAB71318,BAG60157,AAH80529,AAP36037,Q6NR77,Q969Q1 Hs.279709 FLJ32380|IRF|MURF1|MURF2|RNF28|SMRZ E3 ubiquitin-protein ligase TRIM63|iris ring finger protein|muscle specific ring finger protein 2|muscle-specific RING finger protein 1|ring finger protein 28|striated muscle RING zinc finger protein|tripartite motif-containing 63|tripartite motif-containing protein 63 protein-coding 1349864 TRIM64 tripartite motif-containing 64 16554811 120146 NM_001136486,AP004607 NP_001129958,A6NGJ6 Hs.454490 C11orf28 tripartite motif-containing 64|tripartite motif-containing protein 64 protein-coding 2311722 TRIM64B tripartite motif-containing 64B 16554811 642446 NM_001164397,AP005435 NP_001157869,A6NI03 Hs.454490 putative tripartite motif-containing protein 64B|tripartite motif-containing 64B|tripartite motif-containing protein 64B-like protein-coding 2311727 TRIM64C tripartite motif-containing 64C 16554811 646754 XM_929704,XM_002343063,XM_002344551,XM_001716339,XM_001718117,XM_002347203,AC084851 XP_934797,XP_002343104,XP_002344592,XP_001716391,XP_001718169,XP_002347244,A6NLI5 Putative tripartite motif-containing protein 64C|tripartite motif containing 64C|tripartite motif-containing 64C|tripartite motif-containing protein 64C-like protein-coding 1352380 TRIM65 tripartite motif-containing 65 737633 19690564,15489334,12477932 737633 201292 AC087289,CH471099,BC006138,BC013181,BC021259,BC073831,BC098412,BG701649,BQ070146,CA417316,NM_173547 NP_775818,EAW89333,EAW89334,EAW89335,EAW89336,AAH06138,AAH13181,AAH21259,AAH73831,AAH98412,Q6PJ69,Q96DX1 Hs.189823 4732463G12Rik tripartite motif-containing 65|tripartite motif-containing protein 65 protein-coding 1344439 TRIM66 tripartite motif-containing 66 1580863 15322135,14702039,11528127,9205841,18029348,21102462 9866 NM_014818,AC091053,AC104360,AJ400879,AB002296,AK000908,AK308310,AK307240,BC031354 NP_055633,CAC35389,BAA20758,O15016 Hs.130836 C11orf29|FLJ10046|TIF1D|TIF1DELTA OTTHUMP00000197472|transcriptional intermediary factor 1 delta|tripartite motif-containing 66|tripartite motif-containing protein 66 protein-coding 1352641 TRIM67 tripartite motif-containing 67 1580863 16710414,16434393,14702039 440730 NM_001004342,AL109810,AL137801,CH471098,AK055338,AK126782,AY253917,CR627464 NP_001004342,CAI19160,CAI19161,CAI19162,EAW69946,BAC86689,AAP69949,Q6ZTA4,AAI56317,AAI57056 Hs.655089 FLJ44831|TNL OTTHUMP00000036069|TRIM9-like protein TNL|tripartite motif-containing 67|tripartite motif-containing protein 67 protein-coding 1344713 TRIM68 tripartite motif-containing 68 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is expressed in many cancer cell lines. Its expression in normal tissues, however, was found to be restricted to prostate. This gene was also found to be differentially expressed in androgen-dependent versus androgen-independent prostate cancer cells. [provided by RefSeq] 18451177,16381901,15489336,15489334,14702039,12477932,11597395,11560955,11230166,11076863,19690564,18029348,11256614,19795399 55128 NM_018073,AC090719,CH471064,CS300677,AF360739,AF439153,AK001231,AK022923,AK056523,AK291166,AK301120,AK310888,AL832730,AY005802,BC075058,BC109063,CR605215 NP_060543,EAW68834,EAW68835,CAK32341,AAL11501,AAL31641,BAA91569,BAB14309,BAG51737,BAF83855,BAG62716,AAF91075,AAH75058,AAI09064,Q6AZZ1,CAL37628,ABZ92344 Hs.523438 FLJ10369|GC109|MGC126176|RNF137|SS-56|SS56 E3 ubiquitin-protein ligase TRIM68|Ro/SSA1 related protein|SSA protein SS-56|ring finger protein 137|tripartite motif-containing 68|tripartite motif-containing protein 68 protein-coding 1312888 TRIM69 tripartite motif-containing 69 This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] 12837286,12477932,11578878,11181995,20379614,16189514,15489334,15231748,20677014 140691 BC033314,BC047945,BI827618,BI829233,BM559467,DQ232883,BC031266,NM_182985,NM_080745,AC122108,CH471082,AF302088,AF302089,AK226115,AK292252,AL360161,AY305385,BC024199 AAH33314,AAH47945,ABB18376,Q86WT6,ABZ92102,ACE87458,ACE86772,NP_892030,NP_542783,EAW77279,EAW77280,EAW77281,EAW77282,AAL55810,AAL55811,BAF84941,AAQ75551,AAH24199 Hs.489254 HSD34|RNF36|Trif RFP-like domain-containing protein trimless|ring finger protein 36|trimless|tripartite motif protein 69|tripartite motif-containing 69|tripartite motif-containing protein 69 protein-coding 1316458 TRIM7 tripartite motif-containing 7 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Multiple transcript variants have been found for this gene, and some of them encode the same isoform. 1580863 15489334,14984203,14702039,12477932,11916970,11331580,8889548 81786 BM970007,BQ000256,NM_203293,NM_203296,NM_203295,NM_203294,NM_203297,NM_033342,AC008443,CH471165,AF220032,AF396651,AF396652,AF396653,AF396654,AF396655,AK124617,AK314872,BC011567,BC080553,BC132863,BC132867 NP_976038,NP_976041,NP_976040,NP_976039,NP_976042,NP_203128,EAW53715,EAW53716,EAW53717,EAW53718,EAW53719,EAW53720,AAG53486,AAK85377,AAK85378,AAK85379,AAK85380,AAK85381,BAG37387,AAH11567,AAH80553,AAI32864,AAI32868,Q9C029,ABM83511,ABM86729 Hs.487412 GNIP|RNF90 RING finger protein 90|glycogenin-interacting protein|tripartite motif protein TRIM7|tripartite motif-containing 7|tripartite motif-containing protein 7 protein-coding 1606726 TRIM71 tripartite motif-containing 71 17890240,16247770,16245339,15722555 131405 NM_001039111,AC139452,DQ232881 Q2Q1W2,NP_001034200,ABB18374,AAI56153,AAI57053 Hs.567678 LIN-41|LIN41 abnormal cell LINeage LIN-41|homolog of C. elegans Lin-41|protein lin-41 homolog|tripartite motif-containing 71|tripartite motif-containing protein 71 protein-coding 1603795 TRIM72 tripartite motif-containing 72 19549727,19129174,15616553,15489334,14702039,12477932,16344560,19967786 493829 NM_001008274,AC009088,CH471192,AK090695,AK131485,BC033211,DA058421,DA821604 NP_001008275,EAW52145,EAW52146,BAC03506,BAD18630,AAH33211,Q6ZMU5 Hs.661859 MG53 mitsugumin-53|tripartite motif-containing 72|tripartite motif-containing protein 72 protein-coding 1354482 TRIM73 tripartite motif-containing 73 1580863 18398435,15489334,14702039,12853948,12477932 375593 NM_198924,AC006014,AF498998,AK094396,AK126254,AK126632,BC033812,BC073780,BC073926 NP_944606,AAP30735,Q86UV7,AAI52801,AAI56767 Hs.632307,Hs.661254 FLJ99347|MGC45477|TRIM50B OTTHUMP00000209160|OTTHUMP00000209161|OTTHUMP00000209761|tripartite motif-containing 50B|tripartite motif-containing 73|tripartite motif-containing protein 50B|tripartite motif-containing protein 73 protein-coding 1350983 TRIM74 tripartite motif-containing 74 19549727,18398435,12853948,12477932 378108 NM_198853,AC005488,AF498999,BC033871 NP_942150,AAP30736,AAH33871,Q86UV6,ABM81740,ABM84896 Hs.645328 MGC45440|TRIM50C tripartite motif-containing 50C|tripartite motif-containing 74|tripartite motif-containing protein 50C|tripartite motif-containing protein 74 protein-coding 1602800 TRIM75 tripartite motif-containing 75 8744354 391714 AC108465,NG_016722 A6NK02 pseudo 2293601 TRIM77 tripartite motif-containing 77 16554811 390231 NM_001146162,AP003122 NP_001139634,A8MWY9 Hs.723112 putative tripartite motif-containing protein 64D|putative tripartite motif-containing protein 77|tripartite motif-containing 77 protein-coding 1319835 TRIM8 tripartite motif-containing 8 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to nuclear bodies. Its structure is similar to some tumor suppressor proteins and its gene maps to a locus thought to contain tumor suppressor genes. 1580863 16385451,11118312,17900511,15489334,15345195,12477932,12163497,11331580,20516148,18029348,19549727 81603 AF220034,AF281046,AL360160,BC021925,BG746631,NM_030912,AL391121,CH471066,AA907931,AF086326 AAG53488,AAG53087,AAH21925,Q5JSM3,Q9BZR9,ABM82945,ABM86135,NP_112174,CAI40861,EAW49679,EAW49680 Hs.336810 GERP|RNF27 OTTHUMP00000020372|glioblastoma expressed ring finger protein|glioblastoma-expressed RING finger protein|probable E3 ubiquitin-protein ligase TRIM8|ring finger protein 27|tripartite motif protein TRIM8|tripartite motif-containing 8|tripartite motif-containing protein 8 protein-coding 736868 TRIM9 tripartite motif-containing 9 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 16344560,16189514,15489334,14702039,12477932,12168954,11524423,11331580,9179496,1602151,16169070,20085810,20379614 114088 NM_015163,NM_052978,AL358334,AL591770,CH471078,AK054781,AK055388,BC013414,BC063872,BF966522,CR594583,CR626106,D87458,DA101991,DA173440,T77638 NP_055978,NP_443210,EAW65680,EAW65681,EAW65682,EAW65683,EAW65684,BAB70913,AAH13414,AAH63872,BAA13398,Q9C026 Hs.654750 KIAA0282|RNF91|SPRING E3 ubiquitin-protein ligase TRIM9|RING finger protein 91|homolog of rat RING finger Spring|tripartite motif protein 9|tripartite motif-containing 9|tripartite motif-containing protein 9 protein-coding 1605231 TRIML1 tripartite motif family-like 1 15489334,14702039,12477932 339976 NM_178556,AC138781,CH471056,AK093499,BC015684,BC113860,BC114469 NP_848651,EAX04607,EAX04608,BAC04185,AAH15684,AAI13861,AAI14470,Q8N9V2 Hs.348618 FLJ36180|MGC138638|MGC138639|RNF209 RING finger protein 209|probable E3 ubiquitin-protein ligase TRIML1|tripartite motif family-like protein 1 protein-coding 1602827 TRIML2 tripartite motif family-like 2 12477932 205860 AC108073,NM_173553,CH471056,AK098667,AK300428,AY435043,AY435044,BC111959,BC111961,BC143709 NP_775824,EAX04609,BAC05372,BAH13282,AAR11851,AAR11852,AAI11960,AAI11962,AAI43710,Q6T5J5,Q8N7C3 Hs.276429 FLJ25801|FLJ56315|MGC138164|MGC138166|SPRYD6 OTTHUMP00000217813|SPRY domain containing 6|SPRY domain-containing protein 6|probable E3 ubiquitin-protein ligase TRIML2|tripartite motif family-like protein 2 protein-coding 1345911 TRIMP1 tripartite motif-containing pseudogene 1 11331580 117852 NR_002777,AC015691,AC109341,AF230412,AL360159,AL360183 Hs.125300 TRIMP1 pseudo 1318084 TRIO triple functional domain (PTPRF interacting) 1580863 8643598,19008376,18519826,17606614,17391702,17081983,16752383,16094384,16033331,15489334,15308664,15215162,15199069,14702039,12477932,11595749,11146652,10948190,10341202,9790533,9154137,16169070,11756498,12376548,12551902,12787561,18936096,19911011,20083228,20379614 7204 AC010419,AC016549,AC016654,AC016656,AC026456,CH471102,AB115332,AB209754,AF091395,AI478154,AK124770,AK131423,AK304786,BC017268,BC035585,BF058117,BQ009698,BQ691537,CR620371,U42390,NM_007118 O75962,NP_009049,EAX08044,EAX08045,EAX08046,EAX08047,EAX08048,BAC79392,BAD92991,AAC43042,BAD18570,BAG65537,AAH17268,AAH35585,AAC34245,Q7Z2K2 Hs.130031 ARHGEF23|FLJ42780|tgat OTTHUMP00000220780|OTTHUMP00000221690|PTPRF-interacting protein|triple functional domain protein protein-coding 1605399 TRIOBP TRIO and F-actin binding protein This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq] 18029348,17629495,18194665,17081983,16385458,16385457,16381901,16344560,15489336,15489334,14702039,12477932,12168954,11258795,11076863,10591208,9853615,8889548,8500161,16169070,11148140,19913121,20628086,19996280 11078 NM_007032,NM_138632,CH471095,Z83844,AB015343,AF281030,AK096634,NM_001039141,AL713698,AW444985,BC003618,BC004303,BC013278,BC022200,BM682463,BQ880866,BU621193,BU675400,BX342673,CR610295,CR621354,DA790674,DQ228003,DQ228004,DQ228005,NG_012857 NP_001034230,NP_008963,NP_619538,EAW60181,EAW60182,EAW60183,EAW60184,EAW60185,EAW60186,CAQ09783,CAQ09784,CAQ09785,CAQ09786,CAQ09787,CAQ09788,CAQ09789,CAQ09790,BAA34800,AAG44841,CAD28497,AAH03618,AAH04303,AAH13278,ABB59559,ABB59560,ABB59561,Q8TCM3,Q9H2D6,CAL37626,CAL37676 Hs.533030 DFNB28|FLJ39315|HRIHFB2122|KIAA1662|TARA|dJ37E16.4 TRIO and F-actin-binding protein|protein Tara|tara-like protein|trio-associated repeat on actin protein-coding 732056 TRIP10 thyroid hormone receptor interactor 10 1580863 16630611,16343437,16326391,16318909,16189514,15752756,15489334,15047863,14502124,12736724,12604778,12477932,12456510,12242347,12054674,11691828,11431473,11294612,11069762,10713100,9373149,8125298,7776974,15163742,20940394,17512409,9210375,17785506,17081983,19041431,19631450,19632321 9322 AC008760,CH471139,AB007845,AB072596,AF380114,AF502289,AJ000414,AK223109,AK313296,AL832186,AY081141,BC013002,BG494851,BQ931996,BT006698,BT020167,BT020171,CB997985,CR536513,CR591990,L40379,NM_004240 NP_004231,EAW69060,EAW69061,EAW69062,EAW69063,EAW69064,EAW69065,BAF80144,BAB88853,AAK77492,AAM46851,CAA04062,BAD96829,BAG36103,AAL89588,AAH13002,AAP35344,AAV38969,AAV43773,CAG38751,AAC41729,Q15642,ABM83673,ABM86961 Hs.515094 CIP4|HSTP|STOT|STP TR-interacting protein 10|TRIP-10|cdc42-interacting protein 4|protein Felic|salt tolerant protein|salt tolerator|thyroid receptor interacting protein 10|thyroid receptor-interacting protein 10 protein-coding 1318006 TRIP11 thyroid hormone receptor interactor 11 TRIP11 was first identified through its ability to interact functionally with thyroid hormone receptor-beta (THRB; MIM 190160). It has also been found in association with the Golgi apparatus and microtubules.[supplied by OMIM] 1580863 17438371,9256431,18029348,19266077,18451304,18391951,18391950,17081983,16344560,15485806,12508121,12477932,11463340,10189370,9373237,7776974,12383348,20546612,16341674,19715559,19730683,20089971 9321 NM_004239,AL049872,CH471061,AF007217,AF011368,AK307489,AW002857,BC002656,BC069008,BC146845,BX113728,BX641024,DA111770,L40380,Y12490,AL599917,BM770594,BU628691,BX486357,NG_016970 NP_004230,EAW81468,EAW81469,AAD09135,AAB84386,AAI46846,CAE46015,AAC41730,CAA73095,Q15643,Q6MZL5 Hs.632339 ACG1A|CEV14|GMAP-210|TRIP230 Golgi-microtubule-associated protein of 210 kDa|TR-interacting protein 11|TRIP-11|clonal evolution-related gene on chromosome 14 protein|golgi-associated microtubule-binding protein 210|thyroid receptor-interacting protein 11 protein-coding 1315318 TRIP12 thyroid hormone receptor interactor 12 1580863 7776974,19028681,18627766,17081983,16964243,15302935,15231748,12477932,12421765,7584044,17643375,19615732,19730683,20208519,20379614 9320 NM_004238,AC009973,AC093384,BC113891,BC114556,D28476,L40383,AC105380,CH471063,AK302468,AK310971,BC037956,EU489742 NP_004229,AAY14755,AAY14681,AAI13892,AAI14557,BAA05837,AAC41731,Q14669,Q14CA3,Q14CF1,Q53R87,Q53TE7,Q57Z94,AAX82004,EAW70896,EAW70897,EAW70898,EAW70899,EAW70900,EAW70901,EAW70902,EAW70903,EAW70904,EAW70905,EAW70906,EAW70907,EAW70908,BAG63758,ACC99349 Hs.591633 KIAA0045|MGC138849|MGC138850|ULF TR-interacting protein 12|TRIP-12|probable E3 ubiquitin-protein ligase TRIP12|thyroid receptor interacting protein 12|thyroid receptor-interacting protein 12 protein-coding 1318331 TRIP13 thyroid hormone receptor interactor 13 1580863 20562859,9223484,16169070,7776974,16189514,15592455,15489334,15388255,12477932,11591653,9199503,17643375,18328944,19060904,19615732 9319 NM_004237,AC122719,CH471102,AK310376,BC000404,BC019294,CR456744,CR593914,CR596381,L40384,U96131,BG722761,BM999741,DB443523,NM_001166260 NP_004228,EAX08185,EAX08186,AAH00404,AAH19294,CAG33025,AAC41732,AAB64095,Q15645,ABZ92274,NP_001159732 Hs.726113 16E1BP 16E1-BP|HPV16 E1 protein binding protein|HPV16 E1 protein-binding protein|TR-interacting protein 13|TRIP-13|human papillomavirus type 16 E1 protein-binding protein|thyroid receptor interacting protein 13|thyroid receptor-interacting protein 13 protein-coding 1315680 TRIP4 thyroid hormone receptor interactor 4 1580863 10454579,7776974,19074642,15592455,15489334,12477932,12077347,10567404,12390891,18029348 9325 NM_016213,AC087632,AC091231,CH471082,AK000433,AK314319,BC012448,BQ225927,CA425850,CR608924,CR616759,L40371,BG166305 NP_057297,EAW77684,EAW77685,BAG36967,AAH12448,AAC41738,Q15650,ABZ92275 Hs.500340 ASC-1|HsT17391 TR-interacting protein 4|TRIP-4|activating signal cointegrator 1|thyroid receptor interacting protein 4|thyroid receptor-interacting protein 4 protein-coding 1353366 TRIP6 thyroid hormone receptor interactor 6 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq] 1580863 17353931,15657077,9598321,14688263,19259951,19017743,18348201,17652164,17081983,16624523,16240724,16137684,15489334,15489293,15148318,14702039,12690205,12533418,12477932,11782456,11771657,11336797,11239002,10826496,10794523,10400701,9466265,7776974,16189514,15761153,16713569,19060904,19293149,20876301 7205 AC011895,AF093836,AF312032,CH236956,CH471091,AF000974,AF025437,AJ001902,AK056773,AK291906,AK309312,BC002680,BC004249,BC004999,BC021540,BC028985,BM800083,NM_003302,CR597445,CR600397,CR605297,CR605367,CR611447,CR612634,CR614307,CR615312,CR615794,CR616514,CR621644,CR622523,CR624193,CR624549,CR749505,L40374 NP_003293,AAD03037,AAK21007,EAL23817,EAW76471,EAW76472,EAW76473,EAW76474,AAB62222,AAC39557,CAA05080,BAF84595,AAH02680,AAH04249,AAH04999,AAH21540,AAH28985,CAH18326,AAC41740,Q15654,Q68D94,Q71V88,ABM83819,ABM87139 Hs.534360 MGC10556|MGC10558|MGC29959|MGC3837|MGC4423|OIP-1|OIP1|TRIP-6|ZRP-1 OIP-1|OPA-interacting protein 1|TR-interacting protein 6|TRIP-6|thyroid receptor-interacting protein 6|zyxin related protein 1|zyxin-related protein 1 protein-coding 1312422 TRIT1 tRNA isopentenyltransferase 1 1580863 11111046,17145094,17081983,16710414,16344560,15870694,14702039,12477932,11560893,9373149,8125298,16169070,15489334,20877624,20095854,20379614 54802 BC107569,BC128155,BC128156,CR457226,CR604485,CR614254,DA031689,AF074918,AL033527,CH471059,AK000068,AK074222,AK223478,AK296453,AK304759,AK307910,AY052768,AY303390,AY702933,AY702934,AY702935,AY702936,AY702937,AY702938,AY702939,AY702940,AY702941,AY702942,AY702943,AY702944,NM_017646,AY702945,AY702946,AY702947,BC010741 AAI07570,AAI28156,AAI28157,CAG33507,Q3T7B4,Q3T7B5,Q3T7B8,Q3T7C3,Q3T7C5,Q3T7C6,Q3T7C7,Q53F11,Q5QPK7,Q9H3H1,AAG31324,NP_060116,CAI19404,CAI19405,CAI19406,EAX07252,EAX07253,BAA90923,BAD97198,BAG59101,BAG65514,AAL14107,AAP60111,AAW63394,AAW63395,AAW63396,AAW63397,AAW63398,AAW63399,AAW63400,AAW63401,AAW63402,AAW63403,AAW63404,AAW63405,AAW63406,AAW63407,AAH10741 Hs.356554 FLJ20061|IPT|MGC149242|MGC149243|MOD5 IPP transferase|IPPT|IPTase|OTTHUMP00000010833|OTTHUMP00000010834|hGRO1|isopentenyl-diphosphate:tRNA isopentenyltransferase|tRNA dimethylallyltransferase, mitochondrial|tRNA isopentenylpyrophosphate transferase protein-coding 1354339 TRLP1 tRNA leucine (AAG) pseudogene 1 8293999 7209 NG_001204,L15362 TRLP1 pseudo 1346845 TRMEP1 tRNA methionine elongator pseudogene 1 8293999 7211 NG_001205,L15363 pseudo 1601995 TRMT1 TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) 16964243,16189514,15489334,15057824,14702039,12477932,10982862 55621 NM_017722,NM_001136035,NM_001142554,AC005546,CH471106,AF075055,AF196479,AK000251,AK292377,AK295245,AK304636,BC002492,BC018302,BC034242,BC040126,BF798026,CR618815,CR620881,DC344734 NP_060192,NP_001129507,NP_001136026,AAC33150,EAW84345,EAW84346,EAW84347,EAW84348,EAW84349,EAW84350,EAW84351,AAG28495,BAA91031,BAF85066,BAG58237,BAG65415,AAH02492,AAH18302,AAH40126,Q9NXH9 Hs.515169 FLJ20244|TRM1 N(2),N(2)-dimethylguanosine tRNA methyltransferase|tRNA 2,2-dimethylguanosine-26 methyltransferase|tRNA(guanine-26,N(2)-N(2)) methyltransferase|tRNA(m(2,2)G26)dimethyltransferase protein-coding 1314969 TRMT11 tRNA methyltransferase 11 homolog (S. cerevisiae) 15592455,15489334,14574404,12477932,20308539,19615732,21102462 60487 NM_001031712,AL035689,CH471051,AF182423,AF532977,AK308651,BC056878,CR615219 NP_001026882,CAI42391,CAI42392,CAI42393,CAI42394,EAW48124,EAW48125,EAW48126,EAW48127,AAG14959,AAQ10284,AAH56878,Q5JY01,Q5JY02,Q5JY03,Q7Z4G4 Hs.404186 C6orf75|MDS024|TRM11|TRMT11-1 chromosome 6 open reading frame 75|tRNA guanosine-2'-O-methyltransferase TRM11 homolog protein-coding 1605990 TRMT12 tRNA methyltransferase 12 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM] 8125298,9373149,17440925,17150819,16005430,15489334,15342556,14702039,12477932 55039 NM_017956,AC090192,AF313041,CH471060,AA608716,AK000779,AK222727,AK225083,BC003057,BC011713,BP342608,CR592089 NP_060426,EAW92062,BAA91374,BAD96447,AAH03057,AAH11713,Q53H54 Hs.9925 FLJ20772|TRM12|TYW2 homolog of yeast tRNA methyltransferase|tRNA methyltranferase 12 homolog|tRNA wybutosine-synthesizing protein 2 homolog|tRNA-yW synthesizing protein 2|tRNA-yW-synthesizing protein 2 protein-coding 1604368 TRMT2A TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae) 18029348,18075473,15489334,15461802,14702039,12477932,10591208,9417108,19615732,20307320 27037 NM_022727,NM_182984,AC006547,CH471176,AI539558,AK025106,AK057029,AK304068,BC013352,BC017184,BC108251,BI756672,BX349507,CR456354,CR592601,CR595584,CR608558,CR617494,CR625115 NP_073564,NP_892029,EAX02995,EAX02996,EAX02997,BAB15067,BAB71349,BAG64975,AAH13352,AAH17184,AAI08252,CAG30240,Q8IZ69 Hs.713579 HTF9C|MGC102728 hpaII tiny fragments locus 9c protein|tRNA (uracil-5-)-methyltransferase homolog A|tRNA methyltransferase 2 homolog A protein-coding 1350620 TRMT2B TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) 737633 14702039,12477932,16344560 737633 79979 NM_024917,AL109952,AL133275,CH471115,Z97985,AK022749,AK315780,AL832849,BC007526,BC008067,BC009437,BC020116,BC034272,BX647969,CR605503,AI222705,BG747665,DA391184,DA454040,NG_015971,NM_001167970,NM_001167971,NM_001167972 NP_079193,CAI42997,CAI42998,CAI42155,CAI42156,EAX02831,EAX02832,EAX02833,EAX02834,EAX02835,EAX02836,EAX02837,EAX02838,CAI42657,CAI42658,BAB14223,BAG38128,CAI46112,AAH07526,AAH08067,AAH09437,AAH20116,AAH34272,Q96GJ1,NP_001161442,NP_001161443,NP_001161444 Hs.496501 CXorf34|FLJ12687|dJ341D10.3 OTTHUMP00000023667|TRM2 homolog|tRNA (uracil-5-)-methyltransferase homolog protein-coding 1315256 TRMT5 TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM] 18029348,15489334,15248782,12477932,10718198 57570 NM_020810,AL160236,CH471061,AB037814,AK293158,BC029638,BC063551,BC108284,BC136606,BC136607,BQ050607,DB448202 NP_065861,EAW80792,BAA92631,BAG56703,AAI08285,AAI36607,AAI36608,Q32P41 Hs.380159 KIAA1393|MGC111453|TRM5 M1G-methyltransferase|tRNA (guanine-N(1)-)-methyltransferase|tRNA [GM37] methyltransferase|tRNA methyltransferase 5|tRNA-N1G37 methyltransferase protein-coding 1604623 TRMT6 tRNA methyltransferase 6 homolog (S. cerevisiae) The protein encoded by this gene is similar to an uncharacterized protein from C. elegans. Although the function of the encoded protein is unknown, it shares weak sequence similarity to a region of S. cerevisiae translation initiation factor subunit Gcd10p. [provided by RefSeq] 16043508,15489334,14702039,12477932,11780052,10810093,10574461,19448621 51605 NM_015939,AL035461,CH471133,AB032979,AF132943,AK000613,AK300812,AK308648,AK309205,AL556917,BC001262,CR601280,CR607627 NP_057023,CAB55274,EAX10406,EAX10407,BAA86467,AAD27718,BAG62468,AAH01262,Q9UJA5 Hs.128791 CGI-09|GCD10|Gcd10p|MGC5029 tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6|tRNA(m1A58)-methyltransferase subunit TRM6|tRNA(m1A58)MTase subunit TRM6 protein-coding 1343016 TRMT61A tRNA methyltransferase 61 homolog A (S. cerevisiae) 737633 16043508,15489334,14702039,12477932,11181995 737633 115708 NM_152307,AL133367,AL139300,CH471061,AK097771,BC007241,BC010167,BC016033,BQ015210,CR597205,CR599923,CR605570,CR616463,CR620786,CR624022,CR625555,DB496873 NP_689520,EAW81823,EAW81824,EAW81825,BAC05168,AAH10167,AAH16033,Q96B39,Q96FX7 Hs.525610 C14orf172|FLJ40452|GCD14|Gcd14p|TRM61|hTRM61 tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRM61|tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61A|tRNA(m1A58)-methyltransferase subunit TRM61|tRNA(m1A58)-methyltransferase subunit TRMT61A|tRNA(m1A58)MTase subunit TRM61|tRNA(m1A58)MTase subunit TRMT61A protein-coding 1602887 TRMT61B tRNA methyltransferase 61 homolog B (S. cerevisiae) 20562859,12477932,11230166,9373149,17207965,8125298 55006 NM_017910,AC097720,CH471053,AK225524,AK225551,AL136689,BC000952,BC010365,CR596396,CR610767,CR612345,CR620335,CR624779 NP_060380,AAY24015,EAX00524,EAX00525,CAB66624,AAH00952,AAH10365,Q9BVS5,ADQ32730 Hs.468026 DKFZp564I2178|FLJ20628 OTTHUMP00000200986|potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B protein-coding 1322577 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase This gene is a member of the trmU family. It encodes a mitochondria-specific tRNA-modifying enzyme that is required for the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon. [provided by RefSeq] 1580863 19338775,19209188,18391568,16826519,16513084,16341674,15944150,15509579,15461802,14746906,14702039,12477932,10591208,19732863,20877624 55687 NG_012173,AF448221,AL031588,CH471138,AB178028,AK000212,AK001002,AK055295,AK093743,AK290712,AK295173,AK303020,AY062123,NM_018006,BC012076,BC027991,BC066593,BC080631,BM755897,BX952612,CR456445,CR601817,CR604463,CR617888,DN997542,DQ309998,DQ309999,DQ310000 NP_060476,AAL35970,CAB38414,EAW73422,EAW73423,EAW73424,EAW73425,EAW73426,BAD66875,BAA91462,BAF83401,BAG58183,BAG64147,AAL38183,AAH27991,CAG30331,ABC46690,ABC46691,ABC46692,O75648,Q2PPL4,Q2PPL5,CAK54474,CAK54773,AAH80631 Hs.439524 MGC99627|MTO2|MTU1|TRMT|TRMT1|TRNT1 MTO2 homolog|mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase|mitochondrial tRNA-specific 2-thiouridylase 1|trna (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1 protein-coding 1350834 TRNAA1 transfer RNA alanine 1 (anticodon UGC) 8661117 7154 AL662890,Z69591 TRAN trna alanine trna 2300911 TRNAA10 transfer RNA alanine 10 (anticodon UGC) 100189066 AL662890 trna 2300895 TRNAA11 transfer RNA alanine 11 (anticodon UGC) 100189082 AL662890 trna 2300885 TRNAA12 transfer RNA alanine 12 (anticodon AGC) 100189092 AL390196 trna 2300884 TRNAA13 transfer RNA alanine 13 (anticodon AGC) 100189093 AL662890 trna 2300871 TRNAA14 transfer RNA alanine 14 (anticodon AGC) 100189106 AL021368 trna 2300863 TRNAA15 transfer RNA alanine 15 (anticodon UGC) 100189114 AL121932 trna 2300861 TRNAA16 transfer RNA alanine 16 (anticodon AGC) 100189116 AL358073 trna 2300860 TRNAA17 transfer RNA alanine 17 (anticodon AGC) 100189117 AL133238 trna 2300849 TRNAA18 transfer RNA alanine 18 (anticodon AGC) 100189128 AL513548 trna 2300828 TRNAA19 transfer RNA alanine 19 (anticodon UGC) 100189149 AL662890 trna 1605135 TRNAA2 transfer RNA alanine 2 (anticodon AGC) 3613974 100009603 AL121936,M17880 trna 2300821 TRNAA20 transfer RNA alanine 20 (anticodon AGC) 100189156 AL591044 trna 2300785 TRNAA21 transfer RNA alanine 21 (anticodon AGC) 100189192 AL591044 trna 2300765 TRNAA22 transfer RNA alanine 22 (anticodon AGC) 100189212 AL591044 trna 2300745 TRNAA23 transfer RNA alanine 23 (anticodon UGC) 100189232 AC126309 trna 2300731 TRNAA24 transfer RNA alanine 24 (anticodon AGC) 100189246 AL596065 trna 2300721 TRNAA25 transfer RNA alanine 25 (anticodon UGC) 100189256 AC109635 trna 2300697 TRNAA26 transfer RNA alanine 26 (anticodon UGC) 100189280 AC008443 trna 2300682 TRNAA27 transfer RNA alanine 27 (anticodon AGC) 100189295 AL662890 trna 2300678 TRNAA28 transfer RNA alanine 28 (anticodon AGC) 100189299 AL121932 trna 2300669 TRNAA29 transfer RNA alanine 29 (anticodon CGC) 100189308 AL121936 trna 1605134 TRNAA3 transfer RNA alanine 3 (anticodon AGC) 3613974 100009604 AC013472,M17881 trna 2300665 TRNAA30 transfer RNA alanine 30 (anticodon AGC) 100189312 AL021368 trna 2300650 TRNAA31 transfer RNA alanine 31 (anticodon AGC) 100189327 AL591044 trna 2300638 TRNAA32 transfer RNA alanine 32 (anticodon UGC) 100189339 AC093719 trna 2300636 TRNAA33 transfer RNA alanine 33 (anticodon AGC) 100189341 AL591044 trna 2300631 TRNAA34 transfer RNA alanine 34 (anticodon AGC) 100189346 AL662890 trna 2300624 TRNAA35 transfer RNA alanine 35 (anticodon AGC) 100189353 AL021368 trna 2300619 TRNAA36 transfer RNA alanine 36 (anticodon AGC) 100189358 AL513548 trna 2300608 TRNAA37 transfer RNA alanine 37 (anticodon AGC) 100189369 AL513548 trna 2300582 TRNAA38 transfer RNA alanine 38 (anticodon CGC) 100189395 AL390196 trna 2300579 TRNAA39 transfer RNA alanine 39 (anticodon AGC) 100189398 AC084082 trna 2300956 TRNAA4 transfer RNA alanine 4 (anticodon CGC) 100189021 AC092686 trna 2300577 TRNAA40 transfer RNA alanine 40 (anticodon CGC) 100189400 AL121932 trna 2300566 TRNAA41 transfer RNA alanine 41 (anticodon AGC) 100189411 AL591044 trna 2300554 TRNAA42 transfer RNA alanine 42 (anticodon AGC) 100189423 AL591044 trna 2300543 TRNAA43 transfer RNA alanine 43 (anticodon AGC) 100189434 AL596065 trna 2300509 TRNAA44P transfer RNA alanine 44 (anticodon AGC) pseudogene 100189468 AL901607,BX088523,CR753651,NG_008526,AL662890 pseudo 2300508 TRNAA45P transfer RNA alanine 45 (anticodon UGC) pseudogene 100189469 NG_008527,AP003721 pseudo 2300448 TRNAA46P transfer RNA alanine 46 (anticodon UGC) pseudogene 100189529 AL671879,NG_008587,AL121932 pseudo 2300944 TRNAA5 transfer RNA alanine 5 (anticodon CGC) 100189033 AL390196 trna 2300935 TRNAA6 transfer RNA alanine 6 (anticodon AGC) 100189042 AL662890 trna 2300931 TRNAA7 transfer RNA alanine 7 (anticodon AGC) 100189046 AL121932 trna 2300930 TRNAA8 transfer RNA alanine 8 (anticodon AGC) 100189047 AL390196 trna 2300917 TRNAA9 transfer RNA alanine 9 (anticodon AGC) 100189060 AL021368 trna 1343197 TRNAC1 transfer RNA cysteine 1 (anticodon GCA) 7183 AC006449 TRC trna 2300833 TRNAC10 transfer RNA cysteine 10 (anticodon GCA) 100189144 AC004941 trna 2300831 TRNAC11 transfer RNA cysteine 11 (anticodon GCA) 100189146 AC004932 trna 2300822 TRNAC12 transfer RNA cysteine 12 (anticodon GCA) 100189155 AC026826 trna 2300800 TRNAC13 transfer RNA cysteine 13 (anticodon GCA) 100189177 AC004932 trna 2300798 TRNAC14 transfer RNA cysteine 14 (anticodon GCA) 100189179 AC073021 trna 2300783 TRNAC15 transfer RNA cysteine 15 (anticodon GCA) 100189194 AC004932 trna 2300780 TRNAC16 transfer RNA cysteine 16 (anticodon GCA) 100189197 AC093821 trna 2300736 TRNAC17 transfer RNA cysteine 17 (anticodon GCA) 100189241 AC095034 trna 2300727 TRNAC18 transfer RNA cysteine 18 (anticodon GCA) 100189250 AC073021 trna 2300710 TRNAC19 transfer RNA cysteine 19 (anticodon GCA) 100189267 AC004932 trna 2300969 TRNAC2 transfer RNA cysteine 2 (anticodon GCA) 100189008 AC004941 trna 2300688 TRNAC20 transfer RNA cysteine 20 (anticodon GCA) 100189289 AC004897 trna 2300672 TRNAC21 transfer RNA cysteine 21 (anticodon GCA) 100189305 AC004941 trna 2300622 TRNAC22 transfer RNA cysteine 22 (anticodon GCA) 100189355 AC004932 trna 2300620 TRNAC23 transfer RNA cysteine 23 (anticodon GCA) 100189357 AC004941 trna 2300618 TRNAC24 transfer RNA cysteine 24 (anticodon GCA) 100189359 AL442663 trna 2300602 TRNAC25 transfer RNA cysteine 25 (anticodon GCA) 100189375 AC004897 trna 2300601 TRNAC26 transfer RNA cysteine 26 (anticodon GCA) 100189376 AC004932 trna 2300598 TRNAC27 transfer RNA cysteine 27 (anticodon GCA) 100189379 AC004897 trna 2300564 TRNAC28 transfer RNA cysteine 28 (anticodon GCA) 100189413 AC004941 trna 2300563 TRNAC29 transfer RNA cysteine 29 (anticodon GCA) 100189414 AC004408 trna 2300948 TRNAC3 transfer RNA cysteine 3 (anticodon GCA) 100189029 AC004932 trna 2300542 TRNAC30 transfer RNA cysteine 30 (anticodon GCA) 100189435 AC110749 trna 2300530 TRNAC31P transfer RNA cysteine 31 (anticodon GCA) pseudogene 100189447 NG_008503,AC104451 pseudo 2300469 TRNAC32P transfer RNA cysteine 32 (anticodon ACA) pseudogene 100189508 NG_008566,AC091969 pseudo 2300928 TRNAC4 transfer RNA cysteine 4 (anticodon GCA) 100189049 AC004941 trna 2300925 TRNAC5 transfer RNA cysteine 5 (anticodon GCA) 100189052 AC110749 trna 2300902 TRNAC6 transfer RNA cysteine 6 (anticodon GCA) 100189075 AC013273 trna 2300887 TRNAC7 transfer RNA cysteine 7 (anticodon GCA) 100189090 AC110749 trna 2300880 TRNAC8 transfer RNA cysteine 8 (anticodon GCA) 100189097 AC004932 trna 2300872 TRNAC9 transfer RNA cysteine 9 (anticodon GCA) 100189105 AC004408 trna 1352440 TRNAD1 transfer RNA aspartic acid 1 (anticodon GUC) 7192 AL451067 TRD trna 2300770 TRNAD10 transfer RNA aspartic acid 10 (anticodon GUC) 100189207 AC013418 trna 2300742 TRNAD11 transfer RNA aspartic acid 11 (anticodon GUC) 100189235 AL590385 trna 2300738 TRNAD12 transfer RNA aspartic acid 12 (anticodon GUC) 100189239 AC007298 trna 2300687 TRNAD13 transfer RNA aspartic acid 13 (anticodon GUC) 100189290 AL590385 trna 2300685 TRNAD14 transfer RNA aspartic acid 14 (anticodon GUC) 100189292 AL021918 trna 2300634 TRNAD15 transfer RNA aspartic acid 15 (anticodon GUC) 100189343 AC126309 trna 2300630 TRNAD16 transfer RNA aspartic acid 16 (anticodon GUC) 100189347 AC093719 trna 2300594 TRNAD17 transfer RNA aspartic acid 17 (anticodon GUC) 100189383 AC135178 trna 2300565 TRNAD18 transfer RNA aspartic acid 18 (anticodon GUC) 100189412 AL831711 trna 2300546 TRNAD19 transfer RNA aspartic acid 19 (anticodon GUC) 100189431 AC079406 trna 2300983 TRNAD2 transfer RNA aspartic acid 2 (anticodon GUC) 100188994 AL158825 trna 2300482 TRNAD20P transfer RNA aspartic acid 20 (anticodon GUC) pseudogene 100189495 NG_008553,AL590385 pseudo 2300916 TRNAD3 transfer RNA aspartic acid 3 (anticodon GUC) 100189061 AC010317 trna 2300890 TRNAD4 transfer RNA aspartic acid 4 (anticodon GUC) 100189087 AL590385 trna 2300857 TRNAD5 transfer RNA aspartic acid 5 (anticodon GUC) 100189120 AL590385 trna 2300843 TRNAD6 transfer RNA aspartic acid 6 (anticodon GUC) 100189134 AL590385 trna 2300827 TRNAD7 transfer RNA aspartic acid 7 (anticodon GUC) 100189150 AC117455 trna 2300819 TRNAD8 transfer RNA aspartic acid 8 (anticodon GUC) 100189158 AL021918 trna 2300777 TRNAD9 transfer RNA aspartic acid 9 (anticodon GUC) 100189200 AL021918 trna 1349868 TRNAE1 transfer RNA glutamic acid 1 (anticodon UUC) 6134271,2912885 7193 BX284668,J00309 TRE|TRNE trna glutamic acid trna 2300923 TRNAE10 transfer RNA glutamic acid 10 (anticodon UUC) 100189054 AC104135 trna 2300914 TRNAE11 transfer RNA glutamic acid 11 (anticodon UUC) 100189063 AC100836 trna 2300909 TRNAE12 transfer RNA glutamic acid 12 (anticodon UUC) 100189068 AL358813 trna 2300886 TRNAE13 transfer RNA glutamic acid 13 (anticodon CUC) 100189091 AL590385 trna 2300864 TRNAE14 transfer RNA glutamic acid 14 (anticodon CUC) 100189113 AL109948 trna 2300848 TRNAE15 transfer RNA glutamic acid 15 (anticodon UUC) 100189129 AL359400 trna 2300767 TRNAE16 transfer RNA glutamic acid 16 (anticodon UUC) 100189210 AL591493 trna 2300741 TRNAE17 transfer RNA glutamic acid 17 (anticodon CUC) 100189236 AC068522 trna 2300718 TRNAE18 transfer RNA glutamic acid 18 (anticodon CUC) 100189259 AL590385 trna 2300708 TRNAE19 transfer RNA glutamic acid 19 (anticodon CUC) 100189269 AL078594 trna 1352392 TRNAE2 transfer RNA glutamic acid 2 (anticodon UUC) 2251139 7194 AL355149,X54483 TRE2|TREL1 trna glutamic acid-like 1 trna 2300644 TRNAE20 transfer RNA glutamic acid 20 (anticodon UUC) 100189333 AL157877 trna 2300593 TRNAE21 transfer RNA glutamic acid 21 (anticodon CUC) 100189384 AL355505 trna 2300592 TRNAE22 transfer RNA glutamic acid 22 (anticodon CUC) 100189385 AL590385 trna 2300570 TRNAE23 transfer RNA glutamic acid 23 (anticodon UUC) 100189407 AL592295 trna 2300568 TRNAE24 transfer RNA glutamic acid 24 (anticodon CUC) 100189409 AL672294 trna 2300560 TRNAE25 transfer RNA glutamic acid 25 (anticodon CUC) 100189417 AC023421 trna 2300559 TRNAE26 transfer RNA glutamic acid 26 (anticodon UUC) 100189418 AC132479 trna 2300537 TRNAE27P transfer RNA glutamic acid 27 (anticodon CUC) pseudogene 100189440 NG_008496,AC078811 pseudo 2300527 TRNAE28P transfer RNA glutamic acid 28 (anticodon CUC) pseudogene 100189450 NG_008506,AF201337 pseudo 2300523 TRNAE29P transfer RNA glutamic acid 29 (anticodon UUC) pseudogene 100189454 NG_008510,AL356957 pseudo 2300977 TRNAE3 transfer RNA glutamic acid 3 (anticodon UUC) 100189000 AL137157 trna 2300520 TRNAE30P transfer RNA glutamic acid 30 (anticodon UUC) pseudogene 100189457 NG_008514,AL356957 pseudo 2300518 TRNAE31P transfer RNA glutamic acid 31 (anticodon CUC) pseudogene 100189459 NG_008516,AC009237 pseudo 2300512 TRNAE32P transfer RNA glutamic acid 32 (anticodon UUC) pseudogene 100189465 NG_008523,AL592207 pseudo 2300493 TRNAE33P transfer RNA glutamic acid 33 (anticodon UUC) pseudogene 100189484 NG_008542,AL354942 pseudo 2300492 TRNAE34P transfer RNA glutamic acid 34 (anticodon UUC) pseudogene 100189485 NG_008543,AL596177 pseudo 2300489 TRNAE35P transfer RNA glutamic acid 35 (anticodon CUC) pseudogene 100189488 NG_008546,AC107918 pseudo 2300486 TRNAE36P transfer RNA glutamic acid 36 (anticodon CUC) pseudogene 100189491 NG_008549,AC064843 pseudo 2300485 TRNAE37P transfer RNA glutamic acid 37 (anticodon CUC) pseudogene 100189492 NG_008550,AL390060 pseudo 2300483 TRNAE38P transfer RNA glutamic acid 38 (anticodon CUC) pseudogene 100189494 NG_008552,AC093738 pseudo 2300471 TRNAE39P transfer RNA glutamic acid 39 (anticodon CUC) pseudogene 100189506 NG_008564,AL355136 pseudo 2300970 TRNAE4 transfer RNA glutamic acid 4 (anticodon CUC) 100189007 AL354833 trna 2300459 TRNAE40P transfer RNA glutamic acid 40 (anticodon UUC) pseudogene 100189518 NG_008576,AC080075 pseudo 2300450 TRNAE41P transfer RNA glutamic acid 41 (anticodon CUC) pseudogene 100189527 NG_008585,AC007881 pseudo 2300449 TRNAE42P transfer RNA glutamic acid 42 (anticodon CUC) pseudogene 100189528 NG_008586,AC090669 pseudo 2300445 TRNAE43P transfer RNA glutamic acid 43 (anticodon CUC) pseudogene 100189532 NG_008590,AL117333 pseudo 2300960 TRNAE5 transfer RNA glutamic acid 5 (anticodon CUC) 100189017 AL590385 trna 2300953 TRNAE6 transfer RNA glutamic acid 6 (anticodon CUC) 100189024 AL662791 trna 2300947 TRNAE7 transfer RNA glutamic acid 7 (anticodon UUC) 100189030 AL354816 trna 2300946 TRNAE8 transfer RNA glutamic acid 8 (anticodon UUC) 100189031 AL451067 trna 2300933 TRNAE9 transfer RNA glutamic acid 9 (anticodon CUC) 100189044 AF186996 trna 1605133 TRNAF1 transfer RNA phenylalanine 1 (anticodon GAA) 3678837 100009605 AP000442,M17622 trna 2300671 TRNAF10 transfer RNA phenylalanine 10 (anticodon GAA) 100189306 AC005329 trna 2300562 TRNAF11 transfer RNA phenylalanine 11 (anticodon GAA) 100189415 AP003778 trna 2300556 TRNAF12 transfer RNA phenylalanine 12 (anticodon GAA) 100189421 AL031229 trna 2300531 TRNAF13P transfer RNA phenylalanine 13 (anticodon GAA) pseudogene 100189446 NG_008502,AL356776 pseudo 2300506 TRNAF14P transfer RNA phenylalanine 14 (anticodon GAA) pseudogene 100189471 NG_008529,AC068228 pseudo 2300505 TRNAF15P transfer RNA phenylalanine 15 (anticodon GAA) pseudogene 100189472 NG_008530,AL390196,AL671879 pseudo 2300480 TRNAF16P transfer RNA phenylalanine 16 (anticodon GAA) pseudogene 100189497 NG_008555,AL358813 pseudo 2300444 TRNAF17P transfer RNA phenylalanine 17 (anticodon GAA) pseudogene 100189533 NG_008591,AL356957 pseudo 1605132 TRNAF2 transfer RNA phenylalanine 2 (anticodon GAA) 1191278 100009606 AC126309,K00350 trna 2300840 TRNAF3 transfer RNA phenylalanine 3 (anticodon GAA) 100189137 AL662890 trna 2300832 TRNAF4 transfer RNA phenylalanine 4 (anticodon GAA) 100189145 AL662890 trna 2300807 TRNAF5 transfer RNA phenylalanine 5 (anticodon GAA) 100189170 AL662890 trna 2300726 TRNAF6 transfer RNA phenylalanine 6 (anticodon GAA) 100189251 AL139318 trna 2300723 TRNAF7 transfer RNA phenylalanine 7 (anticodon GAA) 100189254 AL662791 trna 2300715 TRNAF8 transfer RNA phenylalanine 8 (anticodon GAA) 100189262 AL662890 trna 2300684 TRNAF9 transfer RNA phenylalanine 9 (anticodon GAA) 100189293 AL662890 trna 1347489 TRNAG1 transfer RNA glycine1 (anticodon CCC) 19546379,12787505,2989090,12837248 7195 AL355149,M11273 TRG1 trna glycine (ccc) 1 trna 2300932 TRNAG10 transfer RNA glycine 10 (anticodon CCC) 100189045 AL021920 trna 2300913 TRNAG11 transfer RNA glycine 11 (anticodon UCC) 100189064 AL355505 trna 2300896 TRNAG12 transfer RNA glycine 12 (anticodon GCC) 100189081 AL360007 trna 2300836 TRNAG13 transfer RNA glycine 13 (anticodon UCC) 100189141 AL590385 trna 2300830 TRNAG14 transfer RNA glycine 14 (anticodon CCC) 100189147 AL137798 trna 2300817 TRNAG15 transfer RNA glycine 15 (anticodon GCC) 100189160 AL590385 trna 2300814 TRNAG16 transfer RNA glycine 16 (anticodon GCC) 100189163 AC027281 trna 2300789 TRNAG17 transfer RNA glycine 17 (anticodon UCC) 100189188 AL590385 trna 2300771 TRNAG18 transfer RNA glycine 18 (anticodon UCC) 100189206 AC135178 trna 2300769 TRNAG19 transfer RNA glycine 19 (anticodon GCC) 100189208 AC092686 trna 1344258 TRNAG2 transfer RNA glycine 2 (anticodon GCC) 2066114,116197 7196 AC129492,K00208 TRG2 trna glycine 2 trna 2300757 TRNAG20 transfer RNA glycine 20 (anticodon GCC) 100189220 AC027281 trna 2300747 TRNAG21 transfer RNA glycine 21 (anticodon GCC) 100189230 AL590385 trna 2300746 TRNAG22 transfer RNA glycine 22 (anticodon CCC) 100189231 AC016700 trna 2300725 TRNAG23 transfer RNA glycine 23 (anticodon GCC) 100189252 AL590385 trna 2300717 TRNAG24 transfer RNA glycine 24 (anticodon UCC) 100189260 AL590385 trna 2300703 TRNAG25 transfer RNA glycine 25 (anticodon GCC) 100189274 AL590385 trna 2300700 TRNAG26 transfer RNA glycine 26 (anticodon CCC) 100189277 AC015726 trna 2300693 TRNAG27 transfer RNA glycine 27 (anticodon GCC) 100189284 AP000952 trna 2300679 TRNAG28 transfer RNA glycine 28 (anticodon CCC) 100189298 BX284668 trna 2300663 TRNAG29 transfer RNA glycine 29 (anticodon GCC) 100189314 Z98744 trna 1354437 TRNAG3 transfer RNA glycine 3 (anticodon UCC) 1457046 7197 AC005783 TRG3 trna 2300611 TRNAG30 transfer RNA glycine 30 (anticodon GCC) 100189366 AL831711 trna 2300597 TRNAG31 transfer RNA glycine 31 (anticodon GCC) 100189380 AL590385 trna 2300519 TRNAG32P transfer RNA glycine 32 (anticodon CCC) pseudogene 100189458 NG_008515,AC011994 pseudo 2300517 TRNAG33P transfer RNA glycine 33 (anticodon UCC) pseudogene 100189460 NG_008517,AC027097 pseudo 2300479 TRNAG34P transfer RNA glycine 34 (anticodon CCC) pseudogene 100189498 NG_008556,AL358813 pseudo 2300466 TRNAG35P transfer RNA glycine 35 (anticodon UCC) pseudogene 100189511 NG_008569,AC027097 pseudo 1351037 TRNAG4 transfer RNA glycine 4 (anticodon CCC) 64717 AL022341 TRG4 trna 1347977 TRNAG5 transfer RNA glycine 5 (anticodon GCC) 3019833 7198 AC027281,M13661 TRG5|TRGL1 trna glycine (gcc)-like 1 trna 2300992 TRNAG6 transfer RNA glycine 6 (anticodon GCC) 100188985 AC027281 trna 2300980 TRNAG7 transfer RNA glycine 7 (anticodon UCC) 100188997 AL831711 trna 2300966 TRNAG8 transfer RNA glycine 8 (anticodon UCC) 100189011 AL590385 trna 2300938 TRNAG9 transfer RNA glycine 9 (anticodon UCC) 100189039 AL590385 trna 2300991 TRNAH1 transfer RNA histidine 1 (anticodon GUG) 100188986 AC051619 trna 2300643 TRNAH10 transfer RNA histidine 10 (anticodon GUG) 100189334 AL596177 trna 2300627 TRNAH11 transfer RNA histidine 11 (anticodon GUG) 100189350 AL356957 trna 2300989 TRNAH2 transfer RNA histidine 2 (anticodon GUG) 100188988 AC051619 trna 2300990 TRNAH3 transfer RNA histidine 3 (anticodon GUG) 100188987 AL021807 trna 2300986 TRNAH4 transfer RNA histidine 4 (anticodon GUG) 100188991 AL355505 trna 1605131 TRNAH5 transfer RNA histidine 5 (anticodon GUG) 6188108 100009607 AL137017,X01553 trna 2300912 TRNAH6 transfer RNA histidine 6 (anticodon GUG) 100189065 AC051619 trna 2300803 TRNAH7 transfer RNA histidine 7 (anticodon GUG) 100189174 AL592207 trna 2300735 TRNAH8 transfer RNA histidine 8 (anticodon GUG) 100189242 AC069410 trna 2300670 TRNAH9 transfer RNA histidine 9 (anticodon GUG) 100189307 AL592207 trna 1351110 TRNAI1 transfer RNA isoleucine 1 (anticodon AAU) 7202 AL021808 TRI trna 2301106 TRNAI10 transfer RNA isoleucine 10 (anticodon GAU) 100189594 AC132010 trna 2300764 TRNAI11 transfer RNA isoleucine 11 (anticodon AAU) 100189213 AL021808 trna 2300728 TRNAI12 transfer RNA isoleucine 12 (anticodon AAU) 100189249 AL596065 trna 2300712 TRNAI13 transfer RNA isoleucine 13 (anticodon UAU) 100189265 AC098824 trna 2301105 TRNAI14 transfer RNA isoleucine 14 (anticodon GAU) 100189595 AC132010 trna 2300702 TRNAI15 transfer RNA isoleucine 15 (anticodon AAU) 100189275 AL352978 trna 2301104 TRNAI16 transfer RNA isoleucine 16 (anticodon GAU) 100189596 AC132010 trna 2300667 TRNAI17 transfer RNA isoleucine 17 (anticodon AAU) 100189310 AL021808 trna 2300653 TRNAI18 transfer RNA isoleucine 18 (anticodon UAU) 100189324 AC011500 trna 2301103 TRNAI19 transfer RNA isoleucine 19 (anticodon GAU) 100189597 AC079036 trna 2300949 TRNAI2 transfer RNA isoleucine 2 (anticodon UAU) 100189028 AL590062 trna 2300641 TRNAI20 transfer RNA isoleucine 20 (anticodon AAU) 100189336 AL121934 trna 2300629 TRNAI21 transfer RNA isoleucine 21 (anticodon UAU) 100189348 AL049543 trna 2300605 TRNAI22 transfer RNA isoleucine 22 (anticodon AAU) 100189372 AL591044 trna 2300590 TRNAI23 transfer RNA isoleucine 23 (anticodon AAU) 100189387 AC129492 trna 2300584 TRNAI24 transfer RNA isoleucine 24 (anticodon AAU) 100189393 AC135178 trna 2300576 TRNAI25 transfer RNA isoleucine 25 (anticodon AAU) 100189401 AL591044 trna 2300550 TRNAI26 transfer RNA isoleucine 26 (anticodon GAU) 100189427 BX890604 trna 2301102 TRNAI27 transfer RNA isoleucine 27 (anticodon GAU) 100189598 AC079036 trna 2300515 TRNAI28P transfer RNA isoleucine 28 (anticodon AAU) pseudogene 100189462 NG_008519,AL021808 pseudo 2300503 TRNAI29P transfer RNA isoleucine 29 (anticodon AAU) pseudogene 100189474 NG_008532,AC117501 pseudo 2300927 TRNAI3 transfer RNA isoleucine 3 (anticodon GAU) 100189050 BX890604 trna 2300496 TRNAI30P transfer RNA isoleucine 30 (anticodon AAU) pseudogene 100189481 NG_008539,AL049736 pseudo 2300906 TRNAI4 transfer RNA isoleucine 4 (anticodon AAU) 100189071 AL009179 trna 2300882 TRNAI5 transfer RNA isoleucine 5 (anticodon AAU) 100189095 AL031229 trna 2300846 TRNAI6 transfer RNA isoleucine 6 (anticodon UAU) 100189131 AL031229 trna 2300845 TRNAI7 transfer RNA isoleucine 7 (anticodon GAU) 100189132 BX890604 trna 2300829 TRNAI8 transfer RNA isoleucine 8 (anticodon AAU) 100189148 AL591044 trna 2300824 TRNAI9 transfer RNA isoleucine 9 (anticodon AAU) 100189153 AL121936 trna 1351507 TRNAK1 transfer RNA lysine 1 (anticodon UUU) 6296772,3678837,2066114 7206 AC129492,K01797 TRK1 trna lysine 1 trna 2300901 TRNAK10 transfer RNA lysine 10 (anticodon CUU) 100189076 AL590440 trna 2300879 TRNAK11 transfer RNA lysine 11 (anticodon UUU) 100189098 AC098936 trna 2300873 TRNAK12 transfer RNA lysine 12 (anticodon UUU) 100189104 AC009509 trna 2300870 TRNAK13 transfer RNA lysine 13 (anticodon CUU) 100189107 AL132989 trna 2300867 TRNAK14 transfer RNA lysine 14 (anticodon CUU) 100189110 AL121936 trna 2300858 TRNAK15 transfer RNA lysine 15 (anticodon CUU) 100189119 AC108134 trna 2300855 TRNAK16 transfer RNA lysine 16 (anticodon UUU) 100189122 AL606489 trna 2300852 TRNAK17 transfer RNA lysine 17 (anticodon UUU) 100189125 AC009104 trna 2300797 TRNAK18 transfer RNA lysine 18 (anticodon CUU) 100189180 AC093294 trna 2300795 TRNAK19 transfer RNA lysine 19 (anticodon UUU) 100189182 AL021808 trna 1642402 TRNAK2 transfer RNA lysine 2 (anticodon CUU) 2766931 790966 AC008443,M33940 TRK2 trna 2300779 TRNAK20 transfer RNA lysine 20 (anticodon CUU) 100189198 AL355505 trna 2300768 TRNAK21 transfer RNA lysine 21 (anticodon CUU) 100189209 AJ003147 trna 2300743 TRNAK22 transfer RNA lysine 22 (anticodon UUU) 100189234 AL662871 trna 2300739 TRNAK23 transfer RNA lysine 23 (anticodon UUU) 100189238 AP003778 trna 2300733 TRNAK24 transfer RNA lysine 24 (anticodon CUU) 100189244 AC108134 trna 2300434 TRNAK25 transfer RNA lysine 25 (anticodon UUU) 100189588 AC144526 trna 2300695 TRNAK26 transfer RNA lysine 26 (anticodon CUU) 100189282 AJ003147 trna 2300683 TRNAK27 transfer RNA lysine 27 (anticodon UUU) 100189294 AP003042 trna 2300666 TRNAK28 transfer RNA lysine 28 (anticodon CUU) 100189311 AC011460 trna 2300645 TRNAK29 transfer RNA lysine 29 (anticodon UUU) 100189332 AL662890 trna 1625452 TRNAK3 transfer RNA lysine 3 (anticodon UUU) 17012271,3678837 100049613 AP000442,M17621 trna 2300610 TRNAK30 transfer RNA lysine 30 (anticodon CUU) 100189367 AD000090 trna 2300587 TRNAK31 transfer RNA lysine 31 (anticodon UUU) 100189390 AL021918 trna 2300585 TRNAK32 transfer RNA lysine 32 (anticodon UUU) 100189392 AC104523 trna 2300578 TRNAK33 transfer RNA lysine 33 (anticodon CUU) 100189399 AC008443 trna 2300552 TRNAK34 transfer RNA lysine 34 (anticodon UUU) 100189425 AL606489 trna 2300538 TRNAK35P transfer RNA lysine 35 (anticodon CUU) pseudogene 100189439 NG_008599,AL356441 pseudo 2300513 TRNAK36P transfer RNA lysine 36 (anticodon CUU) pseudogene 100189464 NG_008522,AL365277 pseudo 2300510 TRNAK37P transfer RNA lysine 37 (anticodon CUU) pseudogene 100189467 NG_008525,AJ003147 pseudo 2300497 TRNAK38P transfer RNA lysine 38 (anticodon UUU) pseudogene 100189480 NG_008538,AC011510 pseudo 2300473 TRNAK39P transfer RNA lysine 39 (anticodon UUU) pseudogene 100189504 NG_008562,AC068035 pseudo 2300982 TRNAK4 transfer RNA lysine 4 (anticodon CUU) 100188995 AC012569 trna 2300463 TRNAK40P transfer RNA lysine 40 (anticodon UUU) pseudogene 100189514 NG_008572,AC005225 pseudo 2300458 TRNAK41P transfer RNA lysine 41 (anticodon UUU) pseudogene 100189519 NG_008577,AC124242 pseudo 2300441 TRNAK42P transfer RNA lysine 42 (anticodon CUU) pseudogene 100189536 NG_008594,AC090179 pseudo 2300438 TRNAK43P transfer RNA lysine 43 (anticodon UUU) pseudogene 100189539 AL671879,NG_008597,AL390196 pseudo 2300978 TRNAK5 transfer RNA lysine 5 (anticodon CUU) 100188999 AC087377 trna 2300964 TRNAK6 transfer RNA lysine 6 (anticodon CUU) 100189013 AC103975 trna 2300926 TRNAK7 transfer RNA lysine 7 (anticodon UUU) 100189051 AC010619 trna 2300924 TRNAK8 transfer RNA lysine 8 (anticodon UUU) 100189053 AL021918 trna 2300915 TRNAK9 transfer RNA lysine 9 (anticodon CUU) 100189062 AJ003147 trna 1349810 TRNAL1 transfer RNA leucine 1 (anticodon AAG) 17656376,1899574,1686015 7207 AL163195,M63633 TRL1|TRNP1 transfer RNA leucine 1 (anticodon CUU)|trna leucine 1 trna 2300910 TRNAL10 transfer RNA leucine 10 (anticodon UAA) 100189067 AL021808 trna 2300888 TRNAL11 transfer RNA leucine 11 (anticodon CAG) 100189089 AC108081 trna 2300859 TRNAL12 transfer RNA leucine 12 (anticodon AAG) 100189118 Z98745 trna 2300847 TRNAL13 transfer RNA leucine 13 (anticodon CAG) 100189130 AC108081 trna 2300838 TRNAL14 transfer RNA leucine 14 (anticodon CAG) 100189139 AL590385 trna 2300826 TRNAL15 transfer RNA leucine 15 (anticodon UAG) 100189151 AL163195 trna 2300813 TRNAL16 transfer RNA leucine 16 (anticodon UAA) 100189164 AL009179 trna 2300808 TRNAL17 transfer RNA leucine 17 (anticodon AAG) 100189169 AL662791 trna 2300802 TRNAL18 transfer RNA leucine 18 (anticodon UAA) 100189175 AL158051 trna 2300778 TRNAL19 transfer RNA leucine 19 (anticodon CAA) 100189199 AL672294 trna 1352300 TRNAL2 transfer RNA leucine 2 (anticodon UAG) 12086967,6296772,3637777,2066114 7208 AC129492,K01797,X04117 TRL2 trna leucine 2 trna 2300775 TRNAL20 transfer RNA leucine 20 (anticodon AAG) 100189202 AL662871 trna 2300773 TRNAL21 transfer RNA leucine 21 (anticodon CAG) 100189204 AC068657 trna 2300740 TRNAL22 transfer RNA leucine 22 (anticodon CAA) 100189237 AL662871 trna 2300737 TRNAL23 transfer RNA leucine 23 (anticodon UAA) 100189240 AP003778 trna 2300704 TRNAL24 transfer RNA leucine 24 (anticodon AAG) 100189273 AC008620 trna 2301107 TRNAL25 transfer RNA leucine 25 (anticodon CAA) 100189593 AL662871 trna 2300689 TRNAL26 transfer RNA leucine 26 (anticodon CAG) 100189288 AL121936 trna 2300686 TRNAL27 transfer RNA leucine 27 (anticodon AAG) 100189291 AC009034 trna 2300676 TRNAL28 transfer RNA leucine 28 (anticodon CAA) 100189301 AL021918 trna 2300664 TRNAL29 transfer RNA leucine 29 (anticodon UAA) 100189313 AL135917 trna 2300974 TRNAL3 transfer RNA leucine 3 (anticodon CAA) 100189003 AL451067 trna 2300661 TRNAL30 transfer RNA leucine 30 (anticodon CAG) 100189316 AL590385 trna 2300652 TRNAL31 transfer RNA leucine 31 (anticodon UAA) 100189325 AC097526 trna 2300649 TRNAL32 transfer RNA leucine 32 (anticodon AAG) 100189328 AC008443 trna 2300628 TRNAL33 transfer RNA leucine 33 (anticodon AAG) 100189349 AC069410 trna 2300615 TRNAL34 transfer RNA leucine 34 (anticodon AAG) 100189362 AC008620 trna 2300613 TRNAL35 transfer RNA leucine 35 (anticodon CAG) 100189364 AL590385 trna 2300607 TRNAL36 transfer RNA leucine 36 (anticodon CAA) 100189370 AC055845 trna 2300600 TRNAL37 transfer RNA leucine 37 (anticodon UAA) 100189377 AL158819 trna 2300583 TRNAL38 transfer RNA leucine 38 (anticodon CAG) 100189394 AL831711 trna 2300548 TRNAL39 transfer RNA leucine 39 (anticodon AAG) 100189429 AL354889 trna 2300973 TRNAL4 transfer RNA leucine 4 (anticodon AAG) 100189004 AC008620 trna 2300536 TRNAL40P transfer RNA leucine 40 (anticodon UAG) pseudogene 100189441 NG_008497,AL163636 pseudo 2300521 TRNAL41P transfer RNA leucine 41 (anticodon UAA) pseudogene 100189456 NG_008513,AC021451 pseudo 2300511 TRNAL42P transfer RNA leucine 42 (anticodon UAA) pseudogene 100189466 NG_008524,AL135939 pseudo 2300484 TRNAL43P transfer RNA leucine 43 (anticodon AAG) pseudogene 100189493 NG_008551,AC008620 pseudo 2300478 TRNAL44P transfer RNA leucine 44 (anticodon CAA) pseudogene 100189499 NG_008557,AL390766 pseudo 2300457 TRNAL45P transfer RNA leucine 45 (anticodon UAA) pseudogene 100189520 NG_008578,AL590396 pseudo 2300455 TRNAL46P transfer RNA leucine 46 (anticodon UAA) pseudogene 100189522 NG_008580,AC012365 pseudo 2300968 TRNAL5 transfer RNA leucine 5 (anticodon CAG) 100189009 AL590385 trna 2300959 TRNAL6 transfer RNA leucine 6 (anticodon CAG) 100189018 AL590385 trna 2300945 TRNAL7 transfer RNA leucine 7 (anticodon UAG) 100189032 AC009019 trna 2300939 TRNAL8 transfer RNA leucine 8 (anticodon CAA) 100189038 AL021918 trna 2300934 TRNAL9 transfer RNA leucine 9 (anticodon AAG) 100189043 AC016907 trna 1345406 TRNAM1 transfer RNA methionine 1 (anticodon CAU) 8661117,6308668,6261953 7210 AL021917,J00311,Z69292 RNTMI1|RNTMI2|RNTMT1|TRM1|TRM2|TRMI2|TRNAMI2 trna methionine 1 trna 2300791 TRNAM10 transfer RNA methionine 10 (anticodon CAU) 100189186 AL391834 trna 2300776 TRNAM11 transfer RNA methionine 11 (anticodon CAU) 100189201 AC068228 trna 2300761 TRNAM12 transfer RNA methionine 12 (anticodon CAU) 100189216 AL662871 trna 2300751 TRNAM13 transfer RNA methionine 13 (anticodon CAU) 100189226 AC010531 trna 2300722 TRNAM14 transfer RNA methionine 14 (anticodon CAU) 100189255 AC124287 trna 2300680 TRNAM15 transfer RNA methionine 15 (anticodon CAU) 100189297 AL021918 trna 2300674 TRNAM16 transfer RNA methionine 16 (anticodon CAU) 100189303 AL591044 trna 2300662 TRNAM17 transfer RNA methionine 17 (anticodon CAU) 100189315 Z98744 trna 2300632 TRNAM18 transfer RNA methionine 18 (anticodon CAU) 100189345 AL021808 trna 2300623 TRNAM19 transfer RNA methionine 19 (anticodon CAU) 100189354 AL591044 trna 1346477 TRNAM2 transfer RNA methionine 2 (anticodon CAU) Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM] 6923137,6308668,6261953 7212 AL009179,J00310 RNTMI|RNTMI2|TRM1|TRMI1|TRNAMI1|TRNAMI2 transfer RNA methionine initiator 1 (anticodon CAU)|trna methionine initiator 1 trna 2300586 TRNAM20 transfer RNA methionine 20 (anticodon CAU) 100189391 AL591044 trna 2300962 TRNAM3 transfer RNA methionine 3 (anticodon CAU) 100189015 AL713889 trna 2300937 TRNAM4 transfer RNA methionine 4 (anticodon CAU) 100189040 AL021917 trna 2300892 TRNAM5 transfer RNA methionine 5 (anticodon CAU) 100189085 AL021368 trna 2300883 TRNAM6 transfer RNA methionine 6 (anticodon CAU) 100189094 AL021917 trna 2300877 TRNAM7 transfer RNA methionine 7 (anticodon CAU) 100189100 AL591044 trna 2300866 TRNAM8 transfer RNA methionine 8 (anticodon CAU) 100189111 AL662871 trna 2300842 TRNAM9 transfer RNA methionine 9 (anticodon CAU) 100189135 AC010547 trna 1349805 TRNAMI2 transfer RNA methionine initiator 2 (anticodon CAU) 6308668,6261953 7213 J00311 RNTMI2|TRM2|TRMI2 trna methionine initiator 2 trna 735319 TRNAN1 transfer RNA asparagine 1 (anticodon GUU) The saturation hybridization studies of Hatlen and Attardi (1971) [PubMed 4929578] indicated a copy number of tRNA genes of 1,300 for the haploid human genome--an average of 65 gene copies for each tRNA species. These genes tend to be clustered, an arrangement that would facilitate the exchange of sequence information and enable them to evolve together.[supplied by OMIM] 2757033,6783075,4929578,9632798,10202161 7214 BX546486,K00167 RNN|TRN|TRN1 asp-, gly-, glu- and leu-trnas cluster trna 2300898 TRNAN10 transfer RNA asparagine 10 (anticodon GUU) 100189079 AL592284 trna 2300894 TRNAN11 transfer RNA asparagine 11 (anticodon GUU) 100189083 AL157831 trna 2300881 TRNAN12 transfer RNA asparagine 12 (anticodon GUU) 100189096 AL451067 trna 2300869 TRNAN13 transfer RNA asparagine 13 (anticodon GUU) 100189108 BX248398 trna 2300851 TRNAN14 transfer RNA asparagine 14 (anticodon GUU) 100189126 AL590385 trna 2300850 TRNAN15 transfer RNA asparagine 15 (anticodon GUU) 100189127 AL592492 trna 2300812 TRNAN16 transfer RNA asparagine 16 (anticodon GUU) 100189165 AL592207 trna 2300801 TRNAN17 transfer RNA asparagine 17 (anticodon GUU) 100189176 AC006449 trna 2300794 TRNAN18 transfer RNA asparagine 18 (anticodon GUU) 100189183 BX284668 trna 2300784 TRNAN19 transfer RNA asparagine 19 (anticodon GUU) 100189193 BX537254 trna 1604664 TRNAN2 transfer RNA asparagine 2 (anticodon GUU) 6234206 791226 K01921,BX284668 TRN2 trna 2300782 TRNAN20 transfer RNA asparagine 20 (anticodon GUU) 100189195 AC005329 trna 2300744 TRNAN21 transfer RNA asparagine 21 (anticodon GUU) 100189233 AL356957 trna 2300720 TRNAN22 transfer RNA asparagine 22 (anticodon GUU) 100189257 AL358813 trna 2300711 TRNAN23 transfer RNA asparagine 23 (anticodon GUU) 100189266 AL592307 trna 2300706 TRNAN24 transfer RNA asparagine 24 (anticodon GUU) 100189271 BX248398 trna 2300673 TRNAN25 transfer RNA asparagine 25 (anticodon GUU) 100189304 AL356004 trna 2300657 TRNAN26 transfer RNA asparagine 26 (anticodon AUU) 100189320 AL451043 trna 2300654 TRNAN27 transfer RNA asparagine 27 (anticodon GUU) 100189323 AL954711 trna 2300639 TRNAN28 transfer RNA asparagine 28 (anticodon GUU) 100189338 AL358813 trna 2300621 TRNAN29 transfer RNA asparagine 29 (anticodon GUU) 100189356 CR812485 trna 1604663 TRNAN3 transfer RNA asparagine 3 (anticodon GUU) 6234206 791227 AL356957,K01920 TRN3 trna 2300596 TRNAN30 transfer RNA asparagine 30 (anticodon GUU) 100189381 AL358813 trna 2301109 TRNAN31 transfer RNA asparagine 31 (anticodon GUU) 100189591 AL109844 trna 2300575 TRNAN32 transfer RNA asparagine 32 (anticodon GUU) 100189402 AL592295 trna 2300574 TRNAN33 transfer RNA asparagine 33 (anticodon GUU) 100189403 AL137802 trna 2300487 TRNAN34P transfer RNA asparagine 34 (anticodon GUU) pseudogene 100189490 NG_008548,AL592207 pseudo 2300460 TRNAN35P transfer RNA asparagine 35 (anticodon GUU) pseudogene 100189517 BX284650 TRNAN35P trna 2300443 TRNAN36P transfer RNA asparagine 36 (anticodon GUU) pseudogene 100189534 NG_008592,AL356957 pseudo 2300981 TRNAN4 transfer RNA asparagine 4 (anticodon GUU) 100188996 AL592284 trna 2300972 TRNAN5 transfer RNA asparagine 5 (anticodon GUU) 100189005 AL022240 trna 2300950 TRNAN6 transfer RNA asparagine 6 (anticodon GUU) 100189027 AL137802 trna 2300941 TRNAN7 transfer RNA asparagine 7 (anticodon GUU) 100189036 AL138681 trna 2300918 TRNAN8 transfer RNA asparagine 8 (anticodon GUU) 100189059 AL591493 trna 2300908 TRNAN9 transfer RNA asparagine 9 (anticodon GUU) 100189069 BX284650 trna 1344158 TRNAP1 transfer RNA proline 1 (anticodon AGG) 11223103,7219534,3557125,3472707,1686015,1377597,1301157 7217 AL163195,M15274 TRNP1|TRP1 trna proline 1 trna 2300805 TRNAP10 transfer RNA proline 10 (anticodon CGG) 100189172 AL021807 trna 2300766 TRNAP11 transfer RNA proline 11 (anticodon CGG) 100189211 AL356532 trna 2300756 TRNAP12 transfer RNA proline 12 (anticodon CGG) 100189221 AJ003147 trna 2300754 TRNAP13 transfer RNA proline 13 (anticodon AGG) 100189223 AL121936 trna 2300753 TRNAP14 transfer RNA proline 14 (anticodon UGG) 100189224 AP000785 trna 2300701 TRNAP15 transfer RNA proline 15 (anticodon AGG) 100189276 AC024952 trna 2300696 TRNAP16 transfer RNA proline 16 (anticodon UGG) 100189281 AJ003147 trna 2300691 TRNAP17 transfer RNA proline 17 (anticodon UGG) 100189286 AL163195 trna 2300681 TRNAP18 transfer RNA proline 18 (anticodon AGG) 100189296 AJ003147 trna 2300642 TRNAP19 transfer RNA proline 19 (anticodon UGG) 100189335 AC108134 trna 1342763 TRNAP2 transfer RNA proline 2 (anticodon AGG) 3557125 7218 AL163195,M15347 TRNP1|TRP2 transfer RNA proline 2 (anticodon UGG)|trna proline 2 trna 2300616 TRNAP20 transfer RNA proline 20 (anticodon AGG) 100189361 AC108134 trna 2300589 TRNAP21 transfer RNA proline 21 (anticodon UGG) 100189388 AJ003147 trna 2300522 TRNAP22P transfer RNA proline 22 (anticodon GGG) pseudogene 100189455 NG_008512,AL513128 pseudo 2300514 TRNAP23P transfer RNA proline 23 (anticodon UGG) pseudogene 100189463 NG_008520,AL590396 pseudo 2300501 TRNAP24P transfer RNA proline 24 (anticodon AGG) pseudogene 100189476 NG_008534,AC108134 pseudo 2300495 TRNAP25P transfer RNA proline 25 (anticodon AGG) pseudogene 100189482 NG_008540,AC084149 pseudo 2300494 TRNAP26P transfer RNA proline 26 (anticodon UGG) pseudogene 100189483 NG_008541,AJ003147 pseudo 2300462 TRNAP27P transfer RNA proline 27 (anticodon UGG) pseudogene 100189515 NG_008573,AC098935 pseudo 2300447 TRNAP28P transfer RNA proline 28 (anticodon AGG) pseudogene 100189530 NG_008588,AC092651 pseudo 1346752 TRNAP3 transfer RNA proline 3 (anticodon UGG) 2676726,2613239 7219 AC008443,M27835 TRP3 trna proline (ugg) 3 trna 2300958 TRNAP4 transfer RNA proline 4 (anticodon AGG) 100189019 AL356532 trna 2300957 TRNAP5 transfer RNA proline 5 (anticodon AGG) 100189020 AJ003147 trna 2300905 TRNAP6 transfer RNA proline 6 (anticodon AGG) 100189072 AP000785 trna 2300889 TRNAP7 transfer RNA proline 7 (anticodon UGG) 100189088 AL163636 trna 2300853 TRNAP8 transfer RNA proline 8 (anticodon CGG) 100189124 AC135178 trna 2300841 TRNAP9 transfer RNA proline 9 (anticodon AGG) 100189136 AJ003147 trna 1353079 TRNAQ1 transfer RNA glutamine 1 (anticodon CUG) 6296772,2066114 7228 AC129492,K01797 TRQ1 trna glutamine 1 trna 2300903 TRNAQ10 transfer RNA glutamine 10 (anticodon UUG) 100189074 AL009179 trna 2300856 TRNAQ11 transfer RNA glutamine 11 (anticodon CUG) 100189121 AL662871 trna 2300839 TRNAQ12 transfer RNA glutamine 12 (anticodon UUG) 100189138 AL049543 trna 2300837 TRNAQ13 transfer RNA glutamine 13 (anticodon CUG) 100189140 BX537254 trna 2300823 TRNAQ14 transfer RNA glutamine 14 (anticodon CUG) 100189154 AL592307 trna 2300792 TRNAQ15 transfer RNA glutamine 15 (anticodon UUG) 100189185 AL021917 trna 2300788 TRNAQ16 transfer RNA glutamine 16 (anticodon CUG) 100189189 AL021918 trna 2300763 TRNAQ17 transfer RNA glutamine 17 (anticodon CUG) 100189214 AL009179 trna 2300762 TRNAQ18 transfer RNA glutamine 18 (anticodon UUG) 100189215 AC012365 trna 2300760 TRNAQ19 transfer RNA glutamine 19 (anticodon CUG) 100189217 AL138796 trna 1349965 TRNAQ2 transfer RNA glutamine 2 (anticodon UUG) Mammalian cells contain at least 2 species of glutamine tRNA, the Gln(CUG) form (TRQ1; MIM 189919) and the Gln(UUG) form. Nemoto et al. (1991) [PubMed 2041751] reported the nucleotide sequence of the human tRNA(Gln/UUG) gene. In a correction, Nemoto et al. (1991) [PubMed 2041751] stated that the gene involved should have been designated tRNA-GLN/U*UG, where U* is a derivative of U.[supplied by OMIM] 2041751 7229 AC069454,X58792 TRQ2 trna glutamine 2 trna 2300716 TRNAQ20 transfer RNA glutamine 20 (anticodon CUG) 100189261 AL356957 trna 2300709 TRNAQ21 transfer RNA glutamine 21 (anticodon CUG) 100189268 AL021918 trna 2300690 TRNAQ22 transfer RNA glutamine 22 (anticodon CUG) 100189287 AL355382 trna 2300675 TRNAQ23 transfer RNA glutamine 23 (anticodon CUG) 100189302 AL035045 trna 2300660 TRNAQ24 transfer RNA glutamine 24 (anticodon CUG) 100189317 AC084854 trna 2300656 TRNAQ25 transfer RNA glutamine 25 (anticodon UUG) 100189321 AL021917 trna 2300655 TRNAQ26 transfer RNA glutamine 26 (anticodon CUG) 100189322 AL139152 trna 2300648 TRNAQ27 transfer RNA glutamine 27 (anticodon CUG) 100189329 AL021808 trna 2300626 TRNAQ28 transfer RNA glutamine 28 (anticodon CUG) 100189351 AC009097 trna 2300591 TRNAQ29 transfer RNA glutamine 29 (anticodon CUG) 100189386 AL356004 trna 2300979 TRNAQ3 transfer RNA glutamine 3 (anticodon CUG) 100188998 AL592207 trna 2300588 TRNAQ30 transfer RNA glutamine 30 (anticodon CUG) 100189389 AC021648 trna 2300580 TRNAQ31 transfer RNA glutamine 31 (anticodon UUG) 100189397 AC025283 trna 2300555 TRNAQ32 transfer RNA glutamine 32 (anticodon UUG) 100189422 AL050334 trna 2300533 TRNAQ33P transfer RNA glutamine 33 (anticodon UUG) pseudogene 100189444 NG_008500,AC024578 pseudo 2300532 TRNAQ34P transfer RNA glutamine 34 (anticodon UUG) pseudogene 100189445 NG_008501,AC068137 pseudo 2300529 TRNAQ35P transfer RNA glutamine 35 (anticodon UUG) pseudogene 100189448 NG_008504,AC025731 pseudo 2300526 TRNAQ36P transfer RNA glutamine 36 (anticodon UUG) pseudogene 100189451 NG_008507,AC073869 pseudo 2300525 TRNAQ37P transfer RNA glutamine 37 (anticodon CUG) pseudogene 100189452 NG_008508,AL732363 pseudo 2300516 TRNAQ38P transfer RNA glutamine 38 (anticodon CUG) pseudogene 100189461 NG_008518,AL353147 pseudo 2300504 TRNAQ39P transfer RNA glutamine 39 (anticodon UUG) pseudogene 100189473 NG_008531,AC092600 pseudo 2301108 TRNAQ4 transfer RNA glutamine 4 (anticodon CUG) 100189592 AC026900 trna 2300502 TRNAQ40P transfer RNA glutamine 40 (anticodon UUG) pseudogene 100189475 NG_008533,AL158819 pseudo 2300499 TRNAQ41P transfer RNA glutamine 41 (anticodon UUG) pseudogene 100189478 NG_008536,AC025627 pseudo 2300488 TRNAQ42P transfer RNA glutamine 42 (anticodon UUG) pseudogene 100189489 NG_008547,AC063927 pseudo 2300476 TRNAQ43P transfer RNA glutamine 43 (anticodon UUG) pseudogene 100189501 NG_008559,AC090204 pseudo 2300474 TRNAQ44P transfer RNA glutamine 44 (anticodon CUG) pseudogene 100189503 NG_008561,AC012510 pseudo 2300472 TRNAQ45P transfer RNA glutamine 45 (anticodon UUG) pseudogene 100189505 NG_008563,AC016584 pseudo 2300468 TRNAQ46P transfer RNA glutamine 46 (anticodon UUG) pseudogene 100189509 NG_008567,AC007656 pseudo 2300467 TRNAQ47P transfer RNA glutamine 47 (anticodon UUG) pseudogene 100189510 NG_008568,AC131157 pseudo 2300461 TRNAQ48P transfer RNA glutamine 48 (anticodon UUG) pseudogene 100189516 NG_008574,AC004979,CH236950 pseudo 2300454 TRNAQ49P transfer RNA glutamine 49 (anticodon CUG) pseudogene 100189523 AL137798,NG_008581,BX284668 TRNAQ49P|TRNAV13 pseudo 2300967 TRNAQ5 transfer RNA glutamine 5 (anticodon UUG) 100189010 AL096712 trna 2300453 TRNAQ50P transfer RNA glutamine 50 (anticodon UUG) pseudogene 100189524 NG_008582,AL157694 pseudo 2300446 TRNAQ51P transfer RNA glutamine 51 (anticodon CUG) pseudogene 100189531 NG_008589,AL592207 pseudo 2300442 TRNAQ52P transfer RNA glutamine 52 (anticodon UUG) pseudogene 100189535 NG_008593,AC099654 pseudo 2300439 TRNAQ53P transfer RNA glutamine 53 (anticodon CUG) pseudogene 100189538 NG_008596,AC091982 pseudo 2300437 TRNAQ54P transfer RNA glutamine 54 (anticodon UUG) pseudogene 100189540 NG_008598,AC097526 pseudo 2300961 TRNAQ6 transfer RNA glutamine 6 (anticodon CUG) 100189016 AC006450 trna 2300951 TRNAQ7 transfer RNA glutamine 7 (anticodon UUG) 100189026 AC108937 trna 2300921 TRNAQ8 transfer RNA glutamine 8 (anticodon CUG) 100189056 AL451043 trna 2300919 TRNAQ9 transfer RNA glutamine 9 (anticodon UUG) 100189058 AL161450 trna 1353741 TRNAR1 transfer RNA arginine 1 (anticodon UCU) Transfer RNA arginine-1 has an anticodon UCU (Morrison et al., 1991 [PubMed 2066114]).[supplied by OMIM] 10662545,7703509,2066114 7230 AC129492,Z26635 TRR1 trna arginine (ucu) 1 trna 2300878 TRNAR10 transfer RNA arginine 10 (anticodon ACG) 100189099 AL021808 trna 2300874 TRNAR11 transfer RNA arginine 11 (anticodon ACG) 100189103 AC098476 trna 2300868 TRNAR12 transfer RNA arginine 12 (anticodon UCU) 100189109 AL359091 trna 2300435 TRNAR13 transfer RNA arginine 13 (anticodon CCG) 100189587 AC134407 trna 2300862 TRNAR14 transfer RNA arginine 14 (anticodon UCU) 100189115 AP003778 trna 2300844 TRNAR15 transfer RNA arginine 15 (anticodon UCU) 100189133 AL049796 trna 2300811 TRNAR16 transfer RNA arginine 16 (anticodon UCU) 100189166 AL035403 trna 2300810 TRNAR17 transfer RNA arginine 17 (anticodon ACG) 100189167 AL121934 trna 2300809 TRNAR18 transfer RNA arginine 18 (anticodon CCU) 100189168 AC108134 trna 2300804 TRNAR19 transfer RNA arginine 19 (anticodon CCG) 100189173 AC108134 trna 1343866 TRNAR2 transfer RNA arginine 2 (anticodon ACG) 8344269,2585499,1457046 7231 AL121936,X64282 TRR2 trna arginine (acg) 2 trna 2300796 TRNAR20 transfer RNA arginine 20 (anticodon CCU) 100189181 AC087651 trna 2300734 TRNAR21 transfer RNA arginine 21 (anticodon ACG) 100189243 AL132780 trna 2300713 TRNAR22 transfer RNA arginine 22 (anticodon UCG) 100189264 AC124068 trna 2300707 TRNAR23 transfer RNA arginine 23 (anticodon CCU) 100189270 AJ003147 trna 2300612 TRNAR24 transfer RNA arginine 24 (anticodon CCG) 100189365 AL662890 trna 2300606 TRNAR25 transfer RNA arginine 25 (anticodon UCG) 100189371 AC087651 trna 2300581 TRNAR26 transfer RNA arginine 26 (anticodon ACG) 100189396 AL021917 trna 2300571 TRNAR27 transfer RNA arginine 27 (anticodon CCU) 100189406 AC083880 trna 2300567 TRNAR28 transfer RNA arginine 28 (anticodon UCG) 100189410 AL021917 trna 2300549 TRNAR29 transfer RNA arginine 29 (anticodon ACG) 100189428 AL031229 trna 1347212 TRNAR3 transfer RNA arginine 3 (anticodon UCG) 8661117 7232 AL021917,Z69590 TRR3 trna arginine (ucg) 3 trna 2300534 TRNAR30P transfer RNA arginine 30 (anticodon CCU) pseudogene 100189443 NG_008499,AL109948 pseudo 2300528 TRNAR31P transfer RNA arginine 31 (anticodon CCU) pseudogene 100189449 NG_008505,BX537254 pseudo 2300475 TRNAR32P transfer RNA arginine 32 (anticodon CCU) pseudogene 100189502 NG_008560,AL591493 pseudo 2300456 TRNAR33P transfer RNA arginine 33 (anticodon CCU) pseudogene 100189521 NG_008579,AL356004 pseudo 2300440 TRNAR34P transfer RNA arginine 34 (anticodon CCU) pseudogene 100189537 NG_008595,AP003780 pseudo 1348939 TRNAR4 transfer RNA arginine 4 (anticodon CCG) 7233 AC134407 TRR4 trna 2300965 TRNAR5 transfer RNA arginine 5 (anticodon UCU) 100189012 AL021918 trna 2300952 TRNAR6 transfer RNA arginine 6 (anticodon UCG) 100189025 AL353598 trna 2300943 TRNAR7 transfer RNA arginine 7 (anticodon UCG) 100189034 AL049543 trna 2300899 TRNAR8 transfer RNA arginine 8 (anticodon CCU) 100189078 AC087651 trna 2300893 TRNAR9 transfer RNA arginine 9 (anticodon CCG) 100189084 AL662871 trna 1348651 TRNAS1 transfer RNA serine 1 (anticodon UGA) Hong et al. (1987) [PubMed 3648680] sequenced a human serine (UGA) tRNA by the dideoxysequencing method. The gene forms a typical cloverleaf structure with all appropriate conserved bases. It shows high nucleotide sequence homology with a previously sequenced serine tRNA (Yoo, 1984).[supplied by OMIM] 3648680 94017 AL021918,Y00355 TRS1 trna serine (uga) 1 trna 2300900 TRNAS10 transfer RNA serine 10 (anticodon AGA) 100189077 AL021918 trna 2300825 TRNAS11 transfer RNA serine 11 (anticodon CGA) 100189152 AC073896 trna 2300820 TRNAS12 transfer RNA serine 12 (anticodon GCU) 100189157 AL021807 trna 2300818 TRNAS13 transfer RNA serine 13 (anticodon GCU) 100189159 AL022393 trna 2300793 TRNAS14 transfer RNA serine 14 (anticodon AGA) 100189184 AC135178 trna 2300772 TRNAS15 transfer RNA serine 15 (anticodon CGA) 100189205 AL009179 trna 2300759 TRNAS16 transfer RNA serine 16 (anticodon GCU) 100189218 AL021917 trna 2300752 TRNAS17 transfer RNA serine 17 (anticodon GCU) 100189225 AL049543 trna 2300748 TRNAS18 transfer RNA serine 18 (anticodon GCU) 100189229 AC022405 trna 2300730 TRNAS19 transfer RNA serine 19 (anticodon AGA) 100189247 AL021918 trna 1342551 TRNAS2 transfer RNA serine 2 (anticodon AGA) Hoe et al. (1987) [PubMed 3697066] sequenced a human serine (AGA) tRNA by the dideoxysequencing method and compared it with previously sequenced serine tRNAs.[supplied by OMIM] 3697066,9637248 23437 AL021918,M38616,X06221 TRNS|TRS2|tRNA-SER trna serine (aga) 2 trna 2300729 TRNAS20 transfer RNA serine 20 (anticodon AGA) 100189248 AC024995 trna 2300698 TRNAS21 transfer RNA serine 21 (anticodon UGA) 100189279 AL133551 trna 2300692 TRNAS22 transfer RNA serine 22 (anticodon GCU) 100189285 AP001107 trna 2300646 TRNAS23 transfer RNA serine 23 (anticodon GCU) 100189331 AC129492 trna 2300625 TRNAS24 transfer RNA serine 24 (anticodon AGA) 100189352 AL021918 trna 2300595 TRNAS25 transfer RNA serine 25 (anticodon AGA) 100189382 AL021917 trna 2300557 TRNAS26 transfer RNA serine 26 (anticodon AGA) 100189420 AP003123 trna 2300547 TRNAS27 transfer RNA serine 27 (anticodon UGA) 100189430 AL021917 trna 2300545 TRNAS28 transfer RNA serine 28 (anticodon AGA) 100189432 AC004932 trna 2300490 TRNAS29P transfer RNA serine 29 (anticodon AGA) pseudogene 100189487 NG_008545,AL121751 pseudo 1351968 TRNAS3 transfer RNA serine 3 (anticodon UGA) Hong et al. (1992) [PubMed 1549482] sequenced a human serine tRNA by the dideoxysequencing method. Sequence analysis revealed that the gene forms a typical cloverleaf structure with all appropriate conserved bases, and that the anticodon sequence is 5-prime-UGA-3-prime. The gene has no introns and its nucleotide sequence is highly homologous to those of previously characterized serine tRNAs.[supplied by OMIM] 1549482 23540 AL021918,X63138 TRS3 trna serine (uga) 3 trna 2300465 TRNAS30P transfer RNA serine 30 (anticodon UGA) pseudogene 100189512 NG_008570,AC131055 pseudo 2300452 TRNAS31P transfer RNA serine 31 (anticodon UGA) pseudogene 100189525 NG_008583,AC073869 pseudo 2300451 TRNAS32P transfer RNA serine 32 (anticodon ACU) pseudogene 100189526 NG_008584,AL021808 pseudo 1605442 TRNAS4 transfer RNA serine 4 (anticodon AGA) 3340558 790951 AL021918,X06760 TRS4 trna 2300975 TRNAS5 transfer RNA serine 5 (anticodon GCU) 100189002 AL021808 trna 2300940 TRNAS6 transfer RNA serine 6 (anticodon CGA) 100189037 AC129492 trna 2300936 TRNAS7 transfer RNA serine 7 (anticodon CGA) 100189041 AL121934 trna 2300922 TRNAS8 transfer RNA serine 8 (anticodon UGA) 100189055 AC068137 trna 2300907 TRNAS9 transfer RNA serine 9 (anticodon AGA) 100189070 AL021918 trna 2300897 TRNASUP1 transfer RNA suppressor 1 (anticodon UUA) 100189080 AC079005 trna 2300647 TRNASUP2 transfer RNA suppressor 2 (anticodon UUA) 100189330 AF165138 trna 2300551 TRNASUP3 transfer RNA suppressor 3 (anticodon CUA) 100189426 AC005517 trna 2300535 TRNASUP4P transfer RNA suppressor 4 (anticodon CUA) pseudogene 100189442 NG_008498,AC090646 pseudo 2300524 TRNASUP5P transfer RNA suppressor 5 (anticodon UUA) pseudogene 100189453 NG_008509,AC080003 pseudo 2300507 TRNASUP6P transfer RNA suppressor 6 (anticodon CUA) pseudogene 100189470 NG_008528,AF099810 pseudo 1348605 TRNAT1 transfer RNA threonine 1 (anticodon UGU) 2676726,2613239 7236 AC008443,M27834 TRT1 trna threonine (ugu) 1 trna 2300732 TRNAT10 transfer RNA threonine 10 (anticodon CGU) 100189245 AC003101 trna 2300719 TRNAT11 transfer RNA threonine 11 (anticodon CGU) 100189258 AL021808 trna 2300714 TRNAT12 transfer RNA threonine 12 (anticodon UGU) 100189263 AL163636 trna 2300677 TRNAT13 transfer RNA threonine 13 (anticodon CGU) 100189300 AL031229 trna 2300658 TRNAT14 transfer RNA threonine 14 (anticodon AGU) 100189319 AL121936 trna 2300637 TRNAT15 transfer RNA threonine 15 (anticodon AGU) 100189340 AL009179 trna 2300633 TRNAT16 transfer RNA threonine 16 (anticodon UGU) 100189344 Z98745 trna 2300617 TRNAT17 transfer RNA threonine 17 (anticodon CGU) 100189360 AL121932 trna 2300603 TRNAT18 transfer RNA threonine 18 (anticodon AGU) 100189374 AL009179 trna 2300599 TRNAT19 transfer RNA threonine 19 (anticodon UGU) 100189378 AL513314 trna 1345339 TRNAT2 transfer RNA threonine 2 (anticodon UGU) 7237 AL163195 TRT2 trna 2300558 TRNAT20 transfer RNA threonine 20 (anticodon UGU) 100189419 AL163195 trna 2300544 TRNAT21 transfer RNA threonine 21 (anticodon AGU) 100189433 AL390196 trna 2300539 TRNAT22 transfer RNA threonine 22 (anticodon AGU) 100189438 AC129492 trna 1347971 TRNAT3 transfer RNA threonine 3 (anticodon AGU) 1457046 7238 AC009994 TRT3 trna 2300971 TRNAT4 transfer RNA threonine 4 (anticodon AGU) 100189006 AC008738 trna 2300942 TRNAT5 transfer RNA threonine 5 (anticodon CGU) 100189035 Z98745 trna 2300891 TRNAT6 transfer RNA threonine 6 (anticodon CGU) 100189086 AC040173 trna 2300834 TRNAT7 transfer RNA threonine 7 (anticodon AGU) 100189143 AL021807 trna 2300790 TRNAT8 transfer RNA threonine 8 (anticodon AGU) 100189187 AC129492 trna 2300755 TRNAT9 transfer RNA threonine 9 (anticodon AGU) 100189222 AC135178 trna 1347105 TRNAU1 transfer RNA selenocysteine 1 (anticodon UCA) Opal suppressor phosphoserine tRNAs are the only authentic, naturally occurring suppressor tRNAs identified in higher eukaryotes.[supplied by OMIM] 3156131,1395717 7234 AC138534,K02923 TRSP|tRNA(Sec) transfer RNA selenocysteine/phosphoserine (opal suppressor)|trna phosphoserine (opal suppressor) trna 733380 TRNAU1AP tRNA selenocysteine 1 associated protein 1 16508009,16230358,14702039,12477932,10606267 54952 NR_003109,NM_017846,AL513497,CH471059,AF118082,AK000510,AK023555,AK300162,AK309481,BC000680,BC035855,BC039879,BI602122,BQ014404,CR606491 NP_060316,CAI22288,EAX07687,EAX07688,EAX07689,AAF22026,BAA91217,BAH13226,AAH00680,AAH39879,Q9NX07,Q9UHT1 Hs.533626 FLJ20503|PRO1902|RP4-669K10.4|SECP43|TRSPAP1 tRNA selenocysteine 1-associated protein 1|tRNA selenocysteine associated protein (SECP43)|tRNA selenocysteine associated protein 1|tRNA selenocysteine-associated protein 1 protein-coding 1348963 TRNAU2 transfer RNA selenocysteine 2 (anticodon UCA) 3156131 7235 NG_000872,AL031595,K02924 TRSP2|TRSPP1 trna 2300988 TRNAU3 transfer RNA selenocysteine 3 (anticodon UCA) 100188989 AC068669 trna 1351363 TRNAV1 transfer RNA valine 1 (anticodon AAC) There appear to be about 1,300 tRNA genes in the human genome (Hatlen and Attardi, 1971 [PubMed 4929578]). Arnold et al. (1986) [PubMed 3023191] detected a minimum of 13 valine tRNA genes in genomic blots of human DNA.[supplied by OMIM] 4929578,3023191,2766931 7239 AC008443,M33940 TRV|TRV1 trna valine 1 trna 2300985 TRNAV10 transfer RNA valine 10 (anticodon AAC) 100188992 AC008443 trna 2300984 TRNAV11 transfer RNA valine 11 (anticodon UAC) 100188993 AP003778 trna 2300963 TRNAV12 transfer RNA valine 12 (anticodon AAC) 100189014 AL021808 trna 2300954 TRNAV13 transfer RNA valine 13 (anticodon CAC) 100189023 AL137798 trna 2300904 TRNAV14 transfer RNA valine 14 (anticodon CAC) 100189073 AL009179 trna 2300876 TRNAV15 transfer RNA valine 15 (anticodon CAC) 100189101 AL009179 trna 2300835 TRNAV16 transfer RNA valine 16 (anticodon CAC) 100189142 AL356957 trna 2300816 TRNAV17 transfer RNA valine 17 (anticodon AAC) 100189161 AL009179 trna 2300799 TRNAV18 transfer RNA valine 18 (anticodon AAC) 100189178 AL662890 trna 2300786 TRNAV19 transfer RNA valine 19 (anticodon UAC) 100189191 Z94056 trna 1347207 TRNAV2 transfer RNA valine 2 (anticodon CAC) 7240 AC008620 TRV2 trna 2300781 TRNAV20 transfer RNA valine 20 (anticodon CAC) 100189196 AL021807 trna 2300750 TRNAV21 transfer RNA valine 21 (anticodon CAC) 100189227 AL121936 trna 2300749 TRNAV22 transfer RNA valine 22 (anticodon CAC) 100189228 AL358813 trna 2300694 TRNAV23 transfer RNA valine 23 (anticodon UAC) 100189283 AP003778 trna 2300659 TRNAV24 transfer RNA valine 24 (anticodon AAC) 100189318 AC078802 trna 2300651 TRNAV25 transfer RNA valine 25 (anticodon CAC) 100189326 AL356957 trna 2300635 TRNAV26 transfer RNA valine 26 (anticodon UAC) 100189342 AL596094 trna 2300614 TRNAV27 transfer RNA valine 27 (anticodon CAC) 100189363 AL021808 trna 2300609 TRNAV28 transfer RNA valine 28 (anticodon CAC) 100189368 AL121934 trna 2300604 TRNAV29 transfer RNA valine 29 (anticodon CAC) 100189373 AL592295 trna 1344675 TRNAV3 transfer RNA valine 3 (anticodon AAC) 1457046 7241 AC008620 TRV3 trna 2300573 TRNAV30 transfer RNA valine 30 (anticodon AAC) 100189404 AL390718 trna 2300569 TRNAV31 transfer RNA valine 31 (anticodon UAC) 100189408 AL021808 trna 2300561 TRNAV32 transfer RNA valine 32 (anticodon CAC) 100189416 AC005783 trna 2300500 TRNAV33P transfer RNA valine 33 (anticodon CAC) pseudogene 100189477 NG_008535,AL021578 pseudo 2300498 TRNAV34P transfer RNA valine 34 (anticodon CAC) pseudogene 100189479 NG_008537,BX284668 pseudo 2300491 TRNAV35P transfer RNA valine 35 (anticodon CAC) pseudogene 100189486 NG_008544,AL355149 TRNAV35P pseudo 2300477 TRNAV36P transfer RNA valine 36 (anticodon CAC) pseudogene 100189500 NG_008558,AL021920 pseudo 2300464 TRNAV37P transfer RNA valine 37 (anticodon UAC) pseudogene 100189513 NG_008571,AL158033 pseudo 2300436 TRNAV4 transfer RNA valine 4 (anticodon CAC) 100189541 AC008620 trna 2300987 TRNAV5 transfer RNA valine 5 (anticodon AAC) 100188990 AC008620 trna 1642404 TRNAV6 transfer RNA valine 6 (anticodon CAC) 2766931 100049614 AC008443,M33940 TRV6 trna 1604662 TRNAV7 transfer RNA valine 7 (anticodon AAC) 3023191 791230 AL009179,M15782 HtV1|TRV7 trna 1604661 TRNAV8 transfer RNA valine 8 (anticodon AAC) 3023191 791231 AL031229,M15783 HtV2|TRV8 trna 1604660 TRNAV9 transfer RNA valine 9 (anticodon CAC) 3023191 791232 AC008620,M15784 HtV3|TRV9 trna 1345720 TRNAW1 transfer RNA tryptophan 1 (anticodon CCA) 7246 AC103681 TRW trna 2300929 TRNAW2 transfer RNA tryptophan 2 (anticodon CCA) 100189048 AL021917 trna 2300865 TRNAW3 transfer RNA tryptophan 3 (anticodon CCA) 100189112 AC129492 trna 2300854 TRNAW4 transfer RNA tryptophan 4 (anticodon CCA) 100189123 AC135178 trna 2300806 TRNAW5 transfer RNA tryptophan 5 (anticodon CCA) 100189171 AC013418 trna 2300787 TRNAW6 transfer RNA tryptophan 6 (anticodon CCA) 100189190 AC073063 trna 2300774 TRNAW7 transfer RNA tryptophan 7 (anticodon CCA) 100189203 AC004448 trna 2300668 TRNAW8 transfer RNA tryptophan 8 (anticodon CCA) 100189309 AL139041 trna 2300541 TRNAW9 transfer RNA tryptophan 9 (anticodon CCA) 100189436 AL021917 trna 1605137 TRNAY1 transfer RNA tyrosine 1 (anticodon GUA) 3636257 100009601 AL163636,M27547 Tyr-tRNA trna 2300705 TRNAY10 transfer RNA tyrosine 10 (anticodon GUA) 100189272 AL121936 trna 2300699 TRNAY11 transfer RNA tyrosine 11 (anticodon GUA) 100189278 AC004932 trna 2300640 TRNAY12 transfer RNA tyrosine 12 (anticodon GUA) 100189337 AL121936 trna 2300572 TRNAY13 transfer RNA tyrosine 13 (anticodon GUA) 100189405 AL163636 trna 2300553 TRNAY14 transfer RNA tyrosine 14 (anticodon GUA) 100189424 AL163636 trna 2300540 TRNAY15 transfer RNA tyrosine 15 (anticodon GUA) 100189437 AC084082 trna 2300481 TRNAY16P transfer RNA tyrosine 16 (anticodon GUA) pseudogene 100189496 NG_008554,AC105109 pseudo 2300470 TRNAY17P transfer RNA tyrosine 17 (anticodon GUA) pseudogene 100189507 NG_008565,AC004941 pseudo 1605136 TRNAY2 transfer RNA tyrosine 2 (anticodon GUA) 3636257 100009602 AL163636,M27548 Tyr-tRNA trna 2300976 TRNAY3 transfer RNA tyrosine 3 (anticodon GUA) 100189001 AL163636 trna 2300955 TRNAY4 transfer RNA tyrosine 4 (anticodon GUA) 100189022 AC013472 trna 2300920 TRNAY5 transfer RNA tyrosine 5 (anticodon GUA) 100189057 AC055822 trna 2300875 TRNAY6 transfer RNA tyrosine 6 (anticodon GUA) 100189102 AC084082 trna 2300815 TRNAY7 transfer RNA tyrosine 7 (anticodon GUA) 100189162 AL121936 trna 2300758 TRNAY8 transfer RNA tyrosine 8 (anticodon GUA) 100189219 AL513548 trna 2300724 TRNAY9 transfer RNA tyrosine 9 (anticodon AUA) 100189253 AC097483 trna 1347704 TRNL tRNA asparagine-like 7215 1601688 TRNP1 TMF1-regulated nuclear protein 1 16792503,12477932 388610 NM_001013642,AL356390,CH471059,AI366714,BC069216,CK904126 NP_001013664,EAX07778,AAH69216,Q6NT89 Hs.355747 C1orf225|TNRP TMF regulated nuclear protein|TMF-regulated nuclear protein 1 protein-coding 1318871 TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1 1580863 10810093,11504732,11256614,18575231,17204286,16381901,16344560,15489336,15489334,12729736,12477932,11727826,11230166,11076863,20877624 51095 NM_182916,AC024060,CH471055,AB063105,AF151805,AK290411,AL834397,BC005184,BC012537,BQ722111,CR622655,DA884423,DB032432,DB525237 NP_886552,EAW63885,EAW63886,EAW63887,EAW63888,EAW63889,BAB70662,AAD34042,BAF83100,CAD39059,AAH05184,Q96Q11,CAL37547,CAL38138,ACE87604,ACE86917,AAH12537 Hs.567495 CCA1|CGI-47|MtCCA OTTHUMP00000207297|mitochondrial CCA-adding tRNA-nucleotidyltransferase|mitochondrial tRNA nucleotidyl transferase, CCA-adding|mt CCA-adding enzyme|mt tRNA CCA-diphosphorylase|mt tRNA CCA-pyrophosphorylase|mt tRNA adenylyltransferase|tRNA-nucleotidyltransferase 1, mitochondrial protein-coding 1605121 TRO trophinin This gene encodes a membrane protein that mediates apical cell adhesion between trophoblastic cells and luminal epithelial cells of the endometrium and is implicated in the initial attachment during the process of embryo implantation. This gene is related to the MAGED gene family by sequence similarity and chromosome location. Multiple alternatively spliced transcript variants have been found for this gene; however, the full-length nature of some variants has not been defined. [provided by RefSeq] 7758945,18846386,18078818,17597582,17559068,17495530,17487845,17360433,16713569,16288751,15772651,15162511,14702039,14633596,12878157,12477932,12297480,11454705,10797941,10470851,10026108,9560222,9533028,9373149,8889548,8125298,15867431,20237496 7216 NM_016157,NM_177556,NG_012806,AL049732,CH471154,AB029037,AF349719,AF349720,AF349721,AF349722,AK001300,AK027489,AK027861,AK225841,AK296329,AK299568,AU279883,BC026914,BM693634,U04811,NM_001039705 NP_001034794,NP_057241,NP_808224,CAB86651,EAW93200,EAW93201,EAW93202,EAW93203,EAW93204,EAW93205,EAW93206,BAA83066,AAK30170,AAK30171,AAK30172,AAK30173,BAA91609,BAB55149,BAG51387,BAG59020,BAG61509,AAA79334,Q12816,Q96SX2,Q9BX88,Q9BX89,Q9BX90,Q9BX91,Q9NVY3 Hs.633653 KIAA1114|MAGE-d3|MAGED3 MAGE superfamily protein|MAGE-D3 antigen|OTTHUMP00000180628|OTTHUMP00000180630|OTTHUMP00000210922|OTTHUMP00000210923|magphinin|trophinin protein-coding 1315734 TROAP trophinin associated protein (tastin) 1580863 7758945,18218922,16964243,12477932,12049630,10026108,9560222 10024 NM_001100620,AC125611,CH471111,AK296811,AK299302,AK309716,AK310709,AK315211,BC011597,BC018627,BC032583,CD366215,CR610448,CR617005,DC410015,U04810,NM_005480 NP_005471,NP_001094090,EAW58062,EAW58063,EAW58064,BAG59384,BAH12995,AAH11597,AAH32583,AAA79333,Q12815,Q6PJU7,ABM81833,ABM84486,ABW03299 Hs.524399 TASTIN tastin|trophinin assisting protein|trophinin-assisting protein (tastin)|trophinin-associated protein protein-coding 1312904 TROVE2 TROVE domain family, member 2 1580863 3200833,17353931,19248095,18056422,17552056,16710414,15964842,15928345,15489334,12477932,12102760,12096904,11251884,10545525,7829096,7602431,6421292,6201849,3926904,2649513,1999763,1689160,18029348,8188321,16344560,17289661,1833722,20089705,20131295,20237496,20224770 6738 NM_001042370,NM_001042369,NM_004600,AL136370,CH471067,U44388,AK314594,AY205314,AY205315,BC036658,BI560207,BQ227323,BX394323,CR592331,CR616562,CR936683,J04137,M25077,AI433657,CX761715,DA518443,NM_001173524,NM_001173525,NR_033393,S57803,S57805 NP_001035829,NP_001035828,NP_004591,CAC17589,CAI10822,CAI10823,CAI10824,CAI10825,EAW91239,EAW91240,EAW91241,EAW91242,EAW91243,EAW91244,EAW91245,EAW91246,EAW91247,AAB81552,AAB81553,BAG37166,AAO47001,AAO47002,AAH36658,AAA35493,AAA35532,P10155,Q5LJ97,Q5LJ98,Q5LJ99,Q5LJA0,Q86WL3,Q86WL4,ABM82452,ABM85642,NP_001166995,NP_001166996 Hs.288178 RO60|RORNP|SSA2 60 kDa SS-A/Ro ribonucleoprotein|60 kDa ribonucleoprotein Ro|OTTHUMP00000033760|OTTHUMP00000033761|OTTHUMP00000033762|Sjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen SS-A/Ro)|gastric cancer multi-drug resistance protein|sjoegren syndrome type A antigen|sjogren syndrome antigen a2 (60kda, ribonucleoprotein autoantigen ss-a/ro) protein-coding 1344231 TRPA1 transient receptor potential cation channel, subfamily A, member 1 The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq] 1580863 18440147,18384850,17571167,17285310,17217068,17164327,16500080,16382100,14712238,9511734,21037510,20547126,10066796,19507192,19369549,19237591,19211797,19159452,19074743,19059884,18988737,18954467,18775987,18769139,18671867,18499726,18463259,18456404,19282836,19507004,19715741,20190512,20194132,20457836 8989 NM_007332,AC016057,AC022867,CH471068,AK307942,Y10601 NP_015628,EAW86986,CAA71610,O75762,AAI48424,AAI53004 Hs.716816 ANKTM1 ankyrin-like with transmembrane domains 1|ankyrin-like with transmembrane domains protein 1|transformation-sensitive protein p120|transient receptor potential cation channel subfamily A member 1 protein-coding 734058 TRPC1 transient receptor potential cation channel, subfamily C, member 1 2301838,1580863 20187291,12477932,15757897,8663995,8646775,19052258,7568191,19471101,19446005,19307462,19228695,19193631,19168436,18995841,18990707,18843204,18802326,18802022,18644792,18546016,18542994,18506892,18436303,18430726,18420269,18326500,18261457,18249094,18184923,18172497,17957383,17920677,17892531,17850866,17348017,17289052,17233611,17224452,17217049,16899508,16870612,16822931,16709572,16551274,16529812,16527499,16382100,16344560,16283206,15972814,15834157,15763245,15654973,15623527,15542611,15347566,15220115,15188402,15105836,15016832,14707123,14706284,14614461,14530267,14505576,12857742,12766172,12736151,12732636,20194530,12356946,12196544,12060571,12032305,11983166,11336651,11301024,11290752,11139478,10980191,10970773,10766822,10097141,9215637,7589464,19913121,20515740,20544850,20628086,19701773,19725137,19749483,19850920,19875453,19897728,19945390,20032510,20093626 2301838 7220 NM_003304,AC022291,AC072028,CH471052,CS105825,AB255425,BC112338,BC113953,BX331349,DB185459,EF522961,GQ293239,X89066 NP_003295,EAW78963,EAW78964,CAJ01296,BAF76425,AAI12339,AAI13954,ABP94017,ACT66710,CAA61447,P48995 Hs.250687 HTRP-1|MGC133334|MGC133335|TRP1 TRP-1|short transient receptor potential channel 1|transient receptor potential canonical 1|transient receptor potential channel 1|transient receptor protein 1 protein-coding 1350987 TRPC2 transient receptor potential cation channel, subfamily C, member 2 (pseudogene) 17217050,16382100,12631698,12601176,7568191,11290752,12032305,14505576,14699131,20210993 7221 NR_002720,AC060812,AB231779,X89067 BAE46900,Q3C1U7 Hs.131910,Hs.690732 pseudo 733864 TRPC3 transient receptor potential cation channel, subfamily C, member 3 724705,1580490,1580863 15327778,12736256,10611319,15744307,15757897,9215637,9368034,19464259,19417689,19260825,19168035,19151765,19136933,19074769,19052171,19043047,19032951,18787184,18755685,18700317,18602918,18478545,18436303,18431718,18276585,18262493,18215135,18177730,17967814,17569672,17360584,17258231,17217051,17023658,16537542,16529812,16484216,16448384,16407161,16382100,16331690,15972814,15834157,15766521,15728370,15654973,15647288,15623527,15489334,15358862,15271991,15199065,15104175,14983059,14736881,12970363,12857742,12736151,12730194,12700192,12606542,12477932,12377790,12356946,12032305,11943785,11524429,9930701,9853757,9535843,9417057,8646775,7568191,11290752,14505576,20677014,19447651,19749484,19812035,20179100,20190511,20190513,20190514,20360250 724705,1580490 7222 NM_001130698,NM_003305,AC079341,AC108930,CH471056,CS105827,AB255423,AB255424,AY865574,BC093682,BC093684,BC143239,X89068,Y13758 NP_001124170,NP_003296,AAY40971,EAX05243,CAJ01297,BAF76423,BAF76424,AAW62292,AAH93682,AAH93684,CAA61448,CAA74083,Q13507,Q4W5P7,Q5G1L5 Hs.150981 TRP3 OTTHUMP00000219991|TRP-3|hTrp-3|hTrp3|short transient receptor potential channel 3|transient receptor potential channel 3|transient receptor protein 3 protein-coding 733150 TRPC4 transient receptor potential cation channel, subfamily C, member 4 724705,1580863 16254212,19307462,19059308,18048348,18021253,17920677,17217052,17081983,17074721,17031666,16527499,16382100,16344560,16144838,16033767,15757897,15540229,15358862,15146197,12857742,12736151,12477932,12356946,12154080,12032305,11830588,11713258,11290752,11163362,11042129,10980202,10816590,8646775,14505576,20574736,20458742,17110928,19725137,19996314,20164195,20379614,20468064 724705 7223 AF063822,AF063823,AF063824,AF063825,AF175406,AF421358,AF421359,AF421360,AF421361,AF421362,AK312524,BC104725,BC105306,BC105641,BC105917,BX648312,NM_001135956,NM_003306,NM_016179,NM_001135955,NM_001135957,AL138679,AL354802,AL356495,CH471075,NM_001135958,CN364204,DB258184,DB278337,DB308366,U40983 EAX08601,AAF22927,AAF22928,AAF22929,AAF22930,AAD51736,AAL24549,AAL24550,AAL24551,AAL24552,AAL24553,BAG35423,AAI04726,AAI05307,AAI05642,AAI05918,NP_001129430,NP_001129428,NP_003297,NP_057263,NP_001129427,NP_001129429,CAH70109,CAH70110,CAH70111,CAH70112,CAH70114,CAI15556,CAI15557,CAI15558,CAI15560,CAI15561,EAX08595,EAX08596,EAX08597,EAX08598,EAX08599,EAX08600,AAC50630,Q2M2U7,Q3KR50,Q3MHB9,Q96P03,Q96P04,Q96P05,Q9UBN4 Hs.262960 HTRP4|MGC119570|MGC119571|MGC119572|MGC119573|TRP4 OTTHUMP00000018273|OTTHUMP00000018277|hTrp-4|short transient receptor potential channel 4|transient receptor potential 4|transient receptor protein 4|trp-related protein 4 protein-coding 1320513 TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein 12047747,11133832,11532960,19059308,18449908,16730941,15489334,14585990,12693554,12477932,11780052,9110174,8889548,8619474,16876162,16964240,20458742,20551172 26133 NM_199368,AL132825,CH471077,AF055022,AK074106,AK298958,AK301368,AK303476,AK315582,AL096738,AL117480,BC001323,BC008836,BC013144,BI488542,BM149369,BM723903,CF125531,NM_015638,CR590600 Q8TEL6,NP_056453,NP_955400,CAC14946,EAW76229,EAW76230,EAW76231,EAW76232,EAW76233,EAW76234,EAW76235,BAB84932,BAG61054,BAG62910,BAG64513,BAG37955,CAB55953,AAH01323,AAH08836,AAH13144 Hs.168073 C20orf188|TRRP4AP|TRUSS TNF-receptor ubiquitous scaffolding/signaling protein|TRP4-associated protein|short transient receptor potential channel 4 associated protein|short transient receptor potential channel 4-associated protein|trpc4-associated protein|tumor necrosis factor receptor-associated ubiquitous scaffolding and signaling protein protein-coding 733334 TRPC5 transient receptor potential cation channel, subfamily C, member 5 1580863 17217053,15757897,10493832,18665391,18495872,18172497,17981154,17925457,17884814,17233612,16950785,16382100,16368680,16284075,15772651,15763245,15647288,12858178,12857742,12766233,12736151,12531519,12032305,11301024,11290752,10980202,14505576,20390293,12477932,19247474,19701773,19815560,20164195,20378846 7224 NM_012471,AC005191,AL031388,AL049563,CH471120,AB209258,AF054568,BC137271,BC137274,NG_021215 NP_036603,AAC24563,CAI43017,EAX02630,BAD92495,AAF00002,AAI37272,AAI37275,Q59G51,Q9UL62 Hs.657709 TRP5 TRP-5|hTRP5|short transient receptor potential channel 5|transient receptor potential channel 5|transient receptor protein 5 protein-coding 1347433 TRPC6 transient receptor potential cation channel, subfamily C, member 6 The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq] 1580490,1580863 20554944,20203293,10611319,15757897,9930701,19443836,19414653,19394138,19380626,19260825,19129465,19124028,19074769,19052171,18818211,18800249,18784209,18617565,18506892,18495872,18436303,18258814,18209485,17957383,17872462,17719101,17699555,17684020,17360584,17317623,17217054,17197445,17116414,17081983,16690880,16527499,16439426,16382100,16034470,15998650,15924139,15879175,15623527,15489334,15362854,15358862,15023993,14761972,14702039,14699131,14688372,14662757,12970363,12871853,12857742,12766233,12765698,12736151,12564954,12531519,12477932,12377790,12356946,12351388,12032305,11988098,11290752,10816590,10368108,9925922,14505576,19843708,19458060,19610066,19701218,19701773,19749484,19936226,19940041,20028870,20190513,20306291,20346360,20395377,20540633,19961855,20705603,20961851,20346379 1580490 7225 NM_004621,NG_011476,AP003079,AP003080,CH471065,AF080394,AF086426,AJ006276,AJ007018,AJ271066,AJ271067,AJ271068,AK001960,AK027769,BC093658,BC093660 NP_004612,EAW67003,EAW67004,EAW67005,AAC63289,CAA06943,CAC06090,CAC01684,CAC01685,CAC01686,BAG51375,AAH93658,AAH93660,Q9Y210 Hs.159003 FLJ11098|FLJ14863|FSGS2|TRP6 TRP-6|short transient receptor potential channel 6|transient receptor protein 6 protein-coding 1604862 TRPC6P transient receptor potential cation channel, subfamily C, member 6 pseudogene 644218 NG_005687,AJ271736 TRPC6L pseudo 1349355 TRPC7 transient receptor potential cation channel, subfamily C, member 7 1580863 15757897,19240791,18021175,17217055,16741513,16382100,16123040,15972814,15342342,12477932,11805119,11290752,12032305,19812035,20379614 57113 NM_020389,CH471062,AJ272034,AJ421783,AJ549088,AJ549089,AJ549090,AY167926,AY167927,BC128185,BC128186,AC008661,BI826927,DR002519,NM_001167576,NM_001167577 NP_065122,EAW62187,EAW62188,EAW62189,EAW62190,EAW62191,EAW62192,CAC03489,CAD19069,CAD70161,CAD70162,CAD70163,AAO12124,AAO12125,AAI28186,AAI28187,Q70T24,Q70T25,Q70T26,Q8IWP7,Q8IWP8,Q8WWL3,Q9HCX4,NP_001161048,NP_001161049 Hs.591263 TRP7 OTTHUMP00000221120|TRP-7|hTRP7|likley ortholog of mouse transient receptor potential cation channel, subfamily C, member 7|putative capacitative calcium channel|short transient receptor potential channel 7|transient receptor protein 7 protein-coding 1312607 TRPM1 transient receptor potential cation channel, subfamily M, member 1 The protein encoded by this gene is similar to the transient receptor potential (Trp) calcium channel family members. The expression of this protein is inversely correlated with melanoma aggressiveness, suggesting that it suppresses melanoma metastasis. [provided by RefSeq] 20482673,19396153,19436059,19587221,19721433,19878917,19887679,19896109,19896113,20300565,20346272,9806836,16382100,14744763,12477932,11535825,11112417,9537257,8889548 4308 NG_016453,AC090829,CH471216,AB115498,AB115499,AB115500,AB115501,AB115502,AF071787,BC005892,BC017849,BC033627,BC058286,BC070356,BM695497,N42519,NM_002420,AC009562,HM135790,HM135791 Q6PE48,Q7Z4N2,AAI56070,EAW61260,EAW61261,EAW61262,EAW61263,EAW61264,BAC80200,BAC80201,BAC80202,BAC80203,BAC80204,AAC80000,AAH58286,NP_002411,ADJ52077,ADJ52078 Hs.155942 CSNB1C|LTRPC1|MLSN1 long transient receptor potential channel 1|melastatin 1|melastatin-1|transient receptor potential cation channel subfamily M member 1|transient receptor potential melastatin family protein-coding 1323582 TRPM2 transient receptor potential cation channel, subfamily M, member 2 The protein encoded by this gene is a calcium-permeable cation channel that is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq] 1580863 20660597,20650899,9806837,19133961,19004782,18957938,18687688,18599483,18572241,18048770,17940282,17604279,17525977,17251321,17217061,17060318,16822940,16777714,16733555,16719842,16601673,16585058,16565078,16461353,16382100,16316998,16306129,16260005,16252251,16075382,15808509,15708008,15561722,12594222,12564954,12529379,12477932,12377790,12032305,11960981,11804595,11509734,11385575,11290752,10830953,9179495,20587417,19454650,19652898,19749482,19887679,20107186,20237295,20515676,20029400,20194125 7226 NM_003307,AP001063,AP001064,AP001065,AP001754,CH471079,D86107,DQ012935,AB001535,AB017549,AB166745,AB166746,AJ417076,AJ878416,AK301101,AK301451,AY603182,BC041570,BC112342,BI755424,BI906484,EU362987,R85260,NG_022913 NP_003298,BAA95563,EAX09426,EAX09427,EAX09428,AAY22174,BAA34700,BAB64300,BAD83705,BAD83706,CAD01139,CAI47593,BAG62700,BAG62975,AAT12288,AAI12343,ACA62700,O94759,Q14DR2,Q5KTC1 Hs.369759 EREG1|KNP3|LTRPC2|MGC133383|NUDT9H|NUDT9L1|TRPC7 LTrpC-2|OTTHUMP00000109530|estrogen-responsive element-associated gene 1 protein|long transient receptor potential channel 2|transient receptor potential cation channel subfamily M member 2|transient receptor potential channel 7 protein-coding 1312585 TRPM3 transient receptor potential cation channel, subfamily M, member 3 The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 15824111,19240061,18224337,17233610,17217062,16382100,15550678,15164053,14702039,12672827,12672799,12477932,12107413,12107412,11230166,10997877,9373149,8889548,8125298,20855565,20401728,20360246 80036 AF536750,AF536751,AF536752,AF536753,AJ505025,AJ505026,AK021788,AK225732,AK308682,AL136545,BC022454,BC067733,BC094699,BC121821,BC134414,BC142972,AF536749,BM668925,CD104154,CD673832,NM_206944,NM_020952,NM_206945,NM_024971,NM_206947,NM_206946,NM_206948,NM_001007470,AL159990,AL161913,AL356318,AL358786,AL391819,AL442645,AL592438,CH471089,NM_001007471,AB046836,AB099661,AB099662,AB099663,AB099664,AB099665,AF325212,AF536748 AAO49154,AAO49155,AAO49156,AAO49157,AAO49158,CAD43604,CAD43605,BAB13895,CAB66480,AAH22454,AAH67733,AAH94699,AAI21822,AAI34415,AAI42973,Q4VXD1,Q504Y1,Q6NW43,Q8TBK0,Q9H200,Q9HAF4,Q9HCF6,AAI72350,CAM13165,CAM13166,CAM13167,NP_001007472,NP_996827,NP_066003,NP_996828,NP_079247,NP_996830,NP_996829,NP_996831,NP_001007471,CAI12196,CAI96095,CAI96096,CAI96097,CAI96098,CAI96100,CAI16984,EAW62505,EAW62507,EAW62508,EAW62509,EAW62510,EAW62511,BAB13442,BAC55102,BAC55103,BAC55104,BAC55105,BAC55106,AAG42856,AAO49153,EAW62506 Hs.47288 GON-2|LTRPC3|MLSN2 LTrpC-3|OTTHUMP00000021445|OTTHUMP00000122556|OTTHUMP00000122558|OTTHUMP00000122559|OTTHUMP00000122560|OTTHUMP00000122561|OTTHUMP00000122563|OTTHUMP00000215759|long transient receptor potential channel 3|melastatin 2|melastatin-2|transient receptor potential cation channel subfamily M member 3 protein-coding 1348019 TRPM4 transient receptor potential cation channel, subfamily M, member 4 1580863 17217063,16806463,16777713,16424899,16407466,16382100,16186107,15845551,15590641,15550671,15472118,15331675,15121803,14758478,14702039,12842017,12799367,12477932,12015988,11535825,19063936,18262493,20562447,19945433,19726882,16344560,17288552,20625999,20884614 54795 NM_017636,AC008891,CH471177,AF497623,AJ575813,AK000048,AK000235,AK292862,AK295820,AK307897,AY046396,AY297044,AY297045,AY297046,BC132727,BC144122,BC144123,BM857470,DA218254,NG_027551,NM_001195227 NP_060106,EAW52460,EAW52461,EAW52462,EAW52463,AAM18083,CAE05941,BAA90907,BAF85551,BAG58637,AAL02142,AAP44473,AAP44474,AAP44475,AAI32728,Q8TD43,NP_001182156 Hs.467101 FLJ20041|PFHB1B|TRPM4B LTrpC-4|LTrpC4|calcium-activated non-selective cation channel 1|hTRPM4|long transient receptor potential channel 4|melastatin-4|transient receptor potential cation channel subfamily M member 4 protein-coding 1321629 TRPM5 transient receptor potential cation channel, subfamily M, member 5 1580863 10607831,17217064,16382100,15731110,14657398,14634208,12477932,12368808,19773279,20660057,10915772 29850 NM_014555,AC124057,CH471158,AF177473,AJ270996,BC093787,BC093789,BC143351,BC143353 NP_055370,EAX02514,EAX02515,EAX02516,AAF26288,CAB66342,AAH93787,AAH93789,AAI43352,AAI43354,Q9NZQ8 Hs.272287 LTRPC5|MTR1 LTrpC-5|MLSN1 and TRP-related|MLSN1- and TRP-related gene 1 protein|long transient receptor potential channel 5|transient receptor potential cation channel subfamily M member 5 protein-coding 1320558 TRPM6 transient receptor potential cation channel, subfamily M, member 6 1580863,1599669 18192217,17217065,17098283,16636202,16382100,16150690,16075242,15164053,14976260,14576148,12032570,12032568,11357414,10021370,9373149,9285786,8125298,18029348,19329436,19149903,19073827,18675813,18660673,18490453,18365021,18301276,20875900,17575980,19695239,19937979,20395377,20700443 1599669 140803 NM_017662,AL354795,CH471089,AF350881,AF448232,AK000094,AK026281,AK057748,AK225207,AY333282,AY333283,AY333284,AY333285,AY333286,AY333287,AY333288,CR618713,AL390874,NG_017036,NM_001177310,NM_001177311 NP_060132,CAH70893,CAH70894,CAH70895,EAW62553,EAW62554,EAW62555,EAW62556,EAW62557,EAW62558,EAW62559,EAW62560,EAW62561,EAW62562,EAW62563,AAK31202,AAM21562,BAA90941,BAB15429,BAB71558,AAR03487,AAR03488,AAR03489,AAR03490,AAR03491,AAR03492,AAR03493,Q5VYG5,Q96LV9,Q9BX84,Q9H637,Q9NXR9,AAI56138,NP_001170781,NP_001170782 Hs.272225 CHAK2|HMGX|HOMG|HOMG1|HSH channel kinase 2|melastatin-related TRP cation channel 6|transient receptor potential cation channel subfamily M member 6 protein-coding 1353386 TRPM7 transient receptor potential cation channel, subfamily M, member 7 TRPCs, mammalian homologs of the Drosophila transient receptor potential (trp) protein, are ion channels that are thought to mediate capacitative calcium entry into the cell. TRP-PLIK is a protein that is both an ion channel and a kinase. As a channel, it conducts calcium and monovalent cations to depolarize cells and increase intracellular calcium. As a kinase, it is capable of phosphorylating itself and other substrates. The kinase activity is necessary for channel function, as shown by its dependence on intracellular ATP and by the kinase mutants.[supplied by OMIM] 632429,1580863 19405049,19149903,19145781,18390554,18365021,18301276,18192217,18073331,18006838,17823441,17785843,17646711,17510191,17310095,17217066,17095511,16943238,16636202,16533898,16436382,16407977,16382100,16357306,16344560,16150690,16075242,16051700,15781465,15591230,15489334,15485879,15069188,14976260,14702039,14594813,12887921,12477932,11941371,11385574,11161216,20875900,18719395,19032368,18675813,10021370,15342556,19454490,19515901,19644062,19998500,20070945,20075334 632429 54822 NM_017672,AC084756,CH471082,AF346629,AK000124,AK075193,AK098584,AK172800,AY032950,BC051024,BC128987,BC128988,DB127039,BC028843,BP354541,NG_021363 NP_060142,EAW77405,EAW77406,EAW77407,EAW77408,EAW77409,AAK19738,BAA90958,BAC11462,BAD18773,AAK44211,AAH51024,Q96QT4 Hs.512894 CHAK|CHAK1|FLJ20117|FLJ25718|LTRPC7|TRP-PLIK LTRPC ion channel family member 7|LTrpC-7|channel-kinase 1|long transient receptor potential channel 7|transient receptor potential cation channel subfamily M member 7|transient receptor potential-phospholipase C-interacting kinase protein-coding 732182 TRPM8 transient receptor potential cation channel, subfamily M, member 8 1580863 20482834,19507192,19404398,19363131,17521436,17517434,17510704,17428469,17426390,17217067,17142461,17065148,16382100,16174775,15961432,15950184,15947109,15492228,15489334,15306801,12858355,12477932,11893340,11325849,19230823,19159452,19095656,18524940,18485891,18458237,18441098,18440147,18384850,18094254,17604279,20605675,20531306,19234481,19482060,19582168,20043080,20110357,20730379,19913121,20587417,20628086 79054 AY090109,AY328400,AY532375,AY532376,BC001135,BC033137,BC126342,BC143819,DQ139309,FJ895300,AK303811,NM_024080,AC005538,CH471063,AB061779 AAM10446,AAP92167,AAS45275,AAS45276,AAH01135,AAI26343,AAZ73614,ACQ66098,A0AVG2,Q3YFM7,Q7Z2W7,BAG64764,NP_076985,EAW71067,EAW71068,BAB86335 Hs.366053 LTRPC6|MGC2849|TRPP8 LTrpC-6|cold/menthol receptor 1|long transient receptor potential channel 6|short form of the TRPM8 cationic channel|transient receptor potential cation channel subfamily M member 8|transient receptor potential p8|transient receptor potential subfamily M member 8|trp-p8 protein-coding 1323571 TRPS1 trichorhinophalangeal syndrome I This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq] 1599670,1580863 16043716,10974077,14702039,14680804,12885770,12620233,11950061,11807863,11773701,11359471,11112658,10647898,8530105,2373110,16940173,10615131,18946009,18713754,17854380,17467349,17391059,17081983,16344560,19913121,20628086,20634891,20677014,12477932,19389374,19610100,20177376,20379614,20635356 1599670 7227 CH471060,NM_014112,NG_012383,AF178030,AF183810,AF264784,AK000948,AK021470,AK021511,AK304046,AK309357,BC125020,CR591796,DA399687 NP_054831,EAW91952,AAF23614,AAG21134,BAA91441,BAG64957,AAI25021,Q9UHF7 Hs.657018 GC79|LGCR|MGC134928 OTTHUMP00000183499|tricho-rhino-phalangeal syndrome type I protein|zinc finger protein GC79|zinc finger transcription factor Trps1 protein-coding 1349455 TRPT1 tRNA phosphotransferase 1 16344560,16189514,15489334,14504659,12477932,8889548,17207965 83707 NM_001033678,NM_001160389,NM_001160390,NM_001160392,NM_001160393,AP005668,AP006334,CH471076,AK026364,AW771318,AY211494,NM_031472,BC005133,BG105545,BM982538,BQ672032,BQ674339,CR591349,CR599436,DA822624,DR004975 NP_113660,NP_001028850,NP_001153861,NP_001153862,NP_001153864,NP_001153865,EAW74201,EAW74202,EAW74203,AAH05133,Q86TN4,AAO62941,ADQ32835 Hs.326586 MGC11134 tRNA 2'-phosphotransferase 1|tRNA splicing 2' phosphotransferase 1 protein-coding 733197 TRPV1 transient receptor potential cation channel, subfamily V, member 1 Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq] 634422,1580863 16115206,17110928,17932042,19161409,19328632,19333172,19397909,19482060,19598235,19608651,19619644,19651168,19656659,19749171,19770677,19778904,19877503,19923855,19959817,20034385,20060270,20096818,20145248,20190512,20351268,20379614,14523239,14520770,14506258,12812762,12808128,12765698,12721390,12573376,12490594,12477932,12454015,12393854,12194871,12077606,11884385,11549313,11358970,11243859,11230166,11226139,11124944,11076863,11050376,10725386,21037510,9349813,123456,19074743,19056576,19036069,18983665,18852901,18830626,18791833,18787888,18786439,18769453,18584893,18574245,18559878,18552442,18503554,18499726,18482991,18414789,18267041,18230619,18222434,18076848,17927589,17913835,17659837,17626206,17596456,17582772,17567713,17560936,17521436,17508360,17508023,17442052,17442041,17428642,17392452,17385724,17347480,17217056,17184838,17176640,17109831,17016800,17074976,17018028,16996800,16996476,16842630,16793902,16777226,16406364,16382100,16381901,16319926,16301147,16099171,16081411,15992990,15793280,15738111,15708075,15691846,15685214,15644492,15574747,15489336,15306801,15190102,15066994,15051629,14996838,14987252,14630912,14554100,20691059,20696376,19913121,20456759,20515731,20628086,20639579,20518854 634422 7442 CH471108,FJ695206,NM_080704,NM_018727,NM_080705,NM_080706,AC027796,AA700014,AF196175,AF196176,AF235160,AJ272063,AJ277028,AL136801,AY131289,AY986821,BC132820,BC136633,BF308801,DQ177332,DQ177333,DQ898279 EAW90497,EAW90498,EAW90499,EAW90500,NP_542435,NP_061197,NP_542436,NP_542437,AAG43466,AAG43467,AAN73432,CAB89866,CAB95729,CAB66735,AAM89472,AAX84657,AAI32821,AAI36634,ABA06605,ABA06606,ABI58280,Q09HS5,Q3LU46,Q3LU47,Q52PU4,Q8IZY9,Q8NER1,CAL38563 Hs.579217,Hs.655380 DKFZp434K0220|VR1 OTRPC1|capsaicin receptor|osm-9-like TRP channel 1|transient receptor potential cation channel subfamily V member 1|transient receptor potential vanilloid 1a|transient receptor potential vanilloid 1b|vanilloid receptor 1|vanilloid receptor subtype 1 protein-coding 1346359 TRPV2 transient receptor potential cation channel, subfamily V, member 2 This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq] 70055,1580863 10201375,18983665,18787888,17977643,17081065,16882997,16777226,16533525,16382100,15489334,15249591,14702039,12765698,12765693,12477932,12093812,12077606,10887936,20926660,14991772,16115206,19482060,19619644,20093382,20103638,20113837 70055 51393 BC018926,NM_016113,A94121,AC093484,AX023769,CH471222,AF103906,AF129112,AJ487963,AK001896,AK289705,BC051305 NP_057197,CAB70426,EAX04507,EAX04508,EAX04509,AAD41724,AAD26363,CAD32310,BAG50989,BAF82394,AAH18926,AAH51305,Q9Y5S1,ABM84533,ABM86071 Hs.279746 MGC12549|VRL|VRL-1|VRL1 OTRPC2|osm-9-like TRP channel 2|transient receptor potential cation channel subfamily V member 2|vanilloid receptor-like protein 1 protein-coding 1344610 TRPV3 transient receptor potential cation channel, subfamily V, member 3 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member (TRPV1) gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. [provided by RefSeq] 1580863 19864432,19209153,18983665,18787888,18178557,17521436,16382100,14702039,12477932,12077606,12077604,12016205,20395302 162514 AC025125,AC027796,CH471108,AF514998,AJ487035,AK074032,AK127330,AK127726,AK304768,AY118267,AY118268,BC104866,BC104868,BC143294,BC143295,BC143299,BC143330,BC143333,BC143334,BC143336,BX537539,EU295940,NM_145068 NP_659505,EAW90502,EAW90503,EAW90504,EAW90505,AAM54027,CAD31711,BAB84858,BAG54484,BAG54559,BAG65523,AAM80558,AAM80559,AAI04867,AAI04869,AAI43295,AAI43300,AAI43331,ACA81614,Q8NET8,Q8TET8,Q2M3L1 Hs.446255 VRL3 VRL-3|transient receptor potential cation channel subfamily V member 3|vanilloid receptor 3|vanilloid receptor-like 3|vanilloid receptor-related osmotically activated channel protein protein-coding 1604803 TRPV4 transient receptor potential cation channel, subfamily V, member 4 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 18458941,12724311,16293632,11025659,15753126,19359599,19279160,19232556,19066426,19033444,19027987,18983665,18845910,18787888,18682435,18587396,18552442,18378772,18355916,18343379,18307101,21115951,20399209,20425821,20888819,18305162,18284852,18174177,17932042,17521436,17374521,17233610,17217058,16627472,16537379,16403833,16382100,16368742,15489334,15489228,15075247,14517216,12692122,12538589,12477932,12354759,12093812,12077606,11827975,11160995,11094154,11081638,10717675,15692563,20650893,10463355,16344560,17110928,19661060,19666518,19701771,19749483,20037586,20037587,20037588,20043876,20190511,20392266,20460441,20577006,20503319,20605796,20639579 59341 NM_147204,NM_021625,AC007834,CH471054,AB032427,AB073669,AB100308,AF258465,AF263523,AF279673,AJ296305,AL834192,BC117426,BC143307,BC143315,DQ059644,DQ059645,DQ059646,DA869138,NG_017090,NM_001177428,NM_001177431,NM_001177433 NP_671737,NP_067638,EAW97878,EAW97879,BAB69040,BAC06573,BAC55864,AAG16127,AAG28029,AAK69487,CAC82937,AAI17427,AAI43316,AAZ04918,AAZ04919,AAZ04920,Q9HBA0,NP_001170899,NP_001170902,NP_001170904 Hs.506713 CMT2C|HMSN2C|OTRPC4|SPSMA|SSQTL1|TRP12|VR-OAC|VRL-2|VRL2|VROAC OSM9-like transient receptor potential channel 4|osm-9-like TRP channel 4|osmosensitive transient receptor potential channel 4|transient receptor potential cation channel subfamily V member 4|transient receptor potential protein 12|vanilloid receptor-like channel 2|vanilloid receptor-related osmotically activated channel protein-coding 1350143 TRPV5 transient receptor potential cation channel, subfamily V, member 5 This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq] 18703016,18596722,18305097,18077461,17233615,17217059,17018846,16564089,16382100,16291808,16189514,16044309,12690205,12660155,12477932,12390878,12198212,12093812,12077606,11846401,11765215,11719848,11549322,10945469,10944439,20547482,19131347,16239475,12765698,15665527,15489237,19453261,19295174,19261737,19157541,19140341,16763551,19423690,20405023 56302 NM_019841,AC073079,AC099652,AJ401155,AY206695,CH236959,CH471198,AF304464,AJ271207,AJ487965,BC034740 NP_062815,CAC08182,AAO13488,EAL23777,EAW51896,AAL04015,CAB96365,CAD32312,AAH34740,Q8N4C1,Q9H480,Q9NQA5 Hs.283369 CAT2|ECAC1|OTRPC3 ECaC|OTTHUMP00000211602|calcium transport protein 2|calcium transporter 2|epithelial calcium channel 1|osm-9-like TRP channel 3|transient receptor potential cation channel subfamily V member 5 protein-coding 731367 TRPV6 transient receptor potential cation channel, subfamily V, member 6 Calcium-permeable channels, such as TRPV6, participate in neurotransmission, muscle contraction, and exocytosis by providing calcium as an intracellular second messenger. Depending on the tissue, transcellular calcium transport may be regulated by vitamin D, parathyroid hormone (PTH; MIM 168450), or calcitonin (CALCA; MIM 114130).[supplied by OMIM] 1580863 16763551,19779013,19857260,20041238,20405023,17550901,17233615,17217060,17197020,17002582,16717058,16574738,16564089,16529812,16382100,16356545,16210335,16189514,15894168,15647288,15582993,15192090,15020691,14736889,14604453,14534305,12869611,12765698,12765696,12690205,12660155,12601087,12584203,12477932,12390878,12361955,12138163,17587679,12077606,15184369,11278579,19295174,19169858,19140341,19056662,18445599,18395250,18392847,18301763,18276610,18245667,12011062,11744752,11719848,11549322,11545681,11248124,11208552,11097838,20684323,20730379 55503 AY203947,BC007094,BC017071,BC034814,CR600768,U82613,X83877,AC104597,AY030305,AY225461,CH236959,CH471198,AF304463,AF365927,AF365928,AJ243500,AJ243501,AJ277909,AJ487964,AK075103,AK075206,AK291707,NM_018646 AAP34470,AAH34814,AAB40152,CAA58757,Q6XYC3,Q8NBV5,Q8NC07,Q9H1D0,Q9NXZ3,Q9Y260,AAI60161,NP_061116,AAK50426,AAO38052,EAL23776,EAW51897,EAW51898,EAW51899,AAG41951,AAL40230,AAM00356,CAC20416,CAC20417,CAB92352,CAD32311,BAC11402,BAC11471,BAF84396 Hs.302740,Hs.638966 ABP/ZF|CAT1|CATL|ECAC2|HSA277909|LP6728|ZFAB Alu-binding protein with zinc finger domain|caT-L|caT-like|calcium channel CaT1|calcium transport protein 1|epithelial apical membrane calcium transporter/channel CaT1|epithelial calcium channel 2|transient receptor potential cation channel subfamily V member 6 protein-coding 1313479 TRRAP transformation/transcription domain-associated protein 15115762,16387653,16494529,17643375,17761535,18347063,19615732,20085741,20379614,9708738,11415895,11418595,10966108,18206972,14966270,9885574,11564863,10373431,19066453,17967892,17694078,16382133,16344560,16341205,15711126,15649435,15647280,15302935,14702039,12963728,12853948,12743606,12690205,12660246,12601814,12477932,12138177,12077335,11931763,11839798,11509179,11445536,11406595,10611234,16407974,12015309,12837248,12738788,16260778,16510874,20427287 8295 AB209489,AF076974,AF110377,AL050077,BC032759,DA113420,NM_003496,AC004893,AC004991,CH236956,CH471091 EAW76698,EAW76699,EAW76700,BAD92726,AAD09420,AAD04629,AAH32759,Q59FH1,Q9Y4A5,NP_003487,AAC62433,AAC27675,EAL23887,EAW76693,EAW76694,EAW76695,EAW76696,EAW76697 Hs.203952 FLJ10671|PAF350/400|PAF400|STAF40|TR-AP|Tra1 350/400 kDa PCAF-associated factor|OTTHUMP00000197294|OTTHUMP00000197295|tra1 homolog|transformation/transcription domain-associated protein protein-coding 1318307 TRUB1 TruB pseudouridine (psi) synthase homolog 1 (E. coli) Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM] 15489334,15164054,12736709,12477932,9373149,8125298,16385451 142940 NM_139169,AL355340,CH471066,AF448144,AK026721,AK125554,AK223567,AK302800,AK312805,BC030601,BX648479,BX648709 NP_631908,CAH73219,EAW49463,AAL40350,BAG54213,BAD97287,BAG64002,BAG35663,AAH30601,CAH10560,Q8WWH5,ABM81813,ABM84969 Hs.21187 PUS4 probable tRNA pseudouridine synthase 1 protein-coding 1346955 TRUB2 TruB pseudouridine (psi) synthase homolog 2 (E. coli) Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM] 1580863 12736709,12477932,9110174,8619474,15489334,15164053,14702039 26995 NM_015679,AL359091,CH471090,AF131848,AJ420462,AK001956,BC001457,CR601040,CR616104,CR618393,CR622527,AK301986 NP_056494,CAI13485,EAW87770,EAW87771,EAW87772,EAW87773,AAD20059,BAA92001,AAH01457,O95900,ABM83082,ABM86277,BAH13601 Hs.632685 CLONE24922|RP11-339B21.1 probable tRNA pseudouridine synthase 2 protein-coding 1343325 TRVP1 tRNA valine (CAC) pseudogene 1 1457046 7242 1352535 TRVP2 tRNA valine pseudogene 2 1457046 7243 1348632 TRVP3 tRNA valine pseudogene 3 1457046 7244 1345860 TRVP4 tRNA valine (AAC) pseudogene 4 1457046 7245 1606966 TRYX3 trypsin X3 This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq] 14702039,12975309,12690205,12477932,8650574,16751668 136541 NM_001001317,NG_001333,AC231381,CH236959,CH471198,AK122940,AY358487,BC035384,DQ384426,DQ384427,DQ384428,DQ384429,DQ384431 NP_001001317,EAL23772,EAW51980,EAW51981,BAG53808,AAQ88851,AAH35384,Q8IYP2,ABD48876,ABD48877,ABD48878,ABD48879,ABD48880 Hs.98609 FLJ16649|MGC35022|PRSS1|TRY1|UNQ2540 OTTHUMP00000213086|trypsin-X3 protein-coding 736947 TSC1 tuberous sclerosis 1 This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 2308795,1624197,1625616,1624196,1580863 20383465,20605525,20819778,21048031,20562859,10806479,12226091,17308101,10915759,11175345,16996505,9580671,15314020,10585443,15589136,16636147,19175396,19058789,19005330,18926585,18830229,18794346,18794342,18772611,18538015,18480009,18413730,18411301,18397877,18368626,18342602,18032745,17997379,17717601,17522300,17378684,17376623,17355907,17304050,17287951,17273797,17114181,16940165,16909113,16897363,16554133,16344560,16339216,16258273,16211238,15963462,15798777,15647351,15624760,15595939,15477556,15324660,15072102,15059224,14985384,14756965,14680818,14633685,14559897,14551205,12894220,12853839,12820960,12773163,12773162,12773159,12766909,12477932,12271141,12176984,12167664,12112044,12062115,12015165,11829138,11774213,11741833,11686512,11444800,11307618,11112665,10607950,10570911,10533067,10227394,9924605,9809973,9328481,9242607,9039502,17658474,17077083,16424383,15851026,15340059,14651849,12511557,11741832,11290735,10807585,18381890,12147258,15342917,17043358,15355997,20658316,12869586,17693255,19169254,19357198,19419980,19422538,19747374,19918125,19966866,20146692,20185476,20371605,20453000,20547222 2308795,1624197,1625616,1624196 7248 NM_000368,NM_001162426,NM_001162427,NG_012386,AF234185,AF274228,AF274229,AL445645,CH471090,AA215977,AB190910,AF013168,AK297326,AK299654,AK303030,AK308412,BC047772,BC070032,BC108668,BC121000,BI463204,CR622174,D87683,DA726552,N63914 NP_000359,NP_001155898,NP_001155899,AAF61948,AAK60415,AAK60416,CAH72112,EAW88021,BAD91314,AAC51674,BAH12548,BAH13090,BAH13883,AAH47772,AAH70032,AAI08669,AAI21001,BAA13436,Q0VAM5,Q32NF0,Q59IT9,Q86WV8,Q92574,Q96RT3,Q96RT4,AAI67824 Hs.370854 KIAA0243|LAM|MGC86987|TSC OTTHUMP00000022439|OTTHUMP00000198378|hamartin|tuberous sclerosis 1 protein|tumor suppressor protein-coding 736193 TSC2 tuberous sclerosis 2 Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1304267,1580097,1580517,1580518,1580519,1580520,1580521,2308795,1625616,625610 20605525,21048031,12147258,20530489,20818424,10823953,10807585,10735580,10732801,10607950,10570911,10533067,10206124,10205261,10069705,10052455,9831664,9829910,9463313,9361032,9302281,8933518,8825048,8824881,8789450,8634701,8269512,7823706,7608212,7581393,7558029,1870099,1303246,17658474,17077083,16424383,16339216,14651849,12511557,11741832,11175345,18298802,15261145,16959574,16357142,9045618,9580671,10585443,12364343,8806680,16636147,17114346,15314020,15589136,19443708,19357198,19332694,19265534,19250671,19175396,19086053,19058789,19005330,18974095,18958173,18926585,18848473,18794346,18794342,18538015,18451215,18411301,18381890,18368626,18342602,18320306,18302728,18094073,18085521,18060739,18032745,17989114,17975002,17922028,17888633,17671177,17632432,17592551,17470459,17458623,17373211,17304050,17287951,17273797,17234746,17114181,17081983,17018601,16940165,16905638,16897363,16835931,16624901,16554133,16537497,16388022,16344560,16341938,16258273,16237225,16213898,16211238,16192644,16053916,15963462,15874888,15851513,15851026,15798777,15647351,15624760,15616553,15595939,15579767,15489334,15477556,15355997,15340059,15231735,15175323,15150271,15072102,15066998,15059224,15024740,14985384,14871804,14756965,14702039,14690447,14680818,14559897,14551205,12894220,12869586,12842888,12820960,12773163,12773162,12773159,12766909,12752578,12711473,12582162,12581886,12547695,12477932,12468542,12438239,12271141,12176984,12172553,12167664,12150915,12127687,12062115,12015165,11836366,11811958,11781698,11741833,11703097,11686512,11403047,11290735,11112665,10915759,14561707,15757502,15342917,15854902,12771962,17043358,17353931,11533041,20622004,20658316,15161933,17163575,18807177,19259131,19395678,19419980,19422538,20145209,20146692,20160076,20201926,20219685,20354165,20453000,9809973,20304964,18029348,21036916,20363874,20042714 1304267,1580097,1580517,1580518,1580519,1580520,1580521,2308795,1625616,625610 7249 X75621,NM_001114382,NM_001077183,NG_005895,AB014460,AC005600,AC093513,CH471112,L48522,L48531,L48537,L48538,L48542,L48546,AB210000,AK022401,AK094152,AK125096,AK295672,AK295728,AK299343,BC025364,BC046929,BC150300,BF194994,BM966762,BX647816,CR601803,CR613640,DA316794,DB288276,S82474,NM_000548 NP_000539,NP_001107854,NP_001070651,BAA32694,AAC34210,EAW85556,EAW85557,EAW85558,EAW85559,EAW85560,AAB41564,BAE06082,BAG52831,BAG54139,BAG58530,BAG58569,BAG61344,AAH25364,AAH46929,AAI50301,CAI46010,AAB37376,CAA53287,P49815,Q5HYF7 Hs.90303 FLJ43106|LAM|TSC4 OTTHUMP00000198394|tuberin|tuberous sclerosis 2 protein protein-coding 1604401 TSC22D1 TSC22 domain family, member 1 TSC22D1 encodes a transcription factor and belongs to the large family of early response genes.[supplied by OMIM] 17353931,9022669,18325344,18288391,17690703,16169070,16106424,15881652,15489334,14702039,12767908,12757981,12477932,12468551,12056414,11944908,11836610,11095965,10488076,9026990,8651929,1587811,17622752,16712791,20149264,20936779,20802130,18355271 8848 NM_183422,NM_006022,AF256226,AL138960,AL139184,AL356107,CH471075,AB082525,AJ222700,AK027071,AK091854,AK290751,AK312345,BC000456,BC009528,BC016867,BC069207,BC105277,BC136475,BC136482,BC146664,BC146679,CB138090,CR456711,CR591418,CR594401,CR594575,CR595193,CR595498,CR597214,CR597685,CR599393,CR599750,CR601742,CR602104,CR603176,CR603525,CR604671,CR607766,CR607827,CR608707,CR609183,CR613638,CR615671,CR618349,CR619247,CR619287,CR620680,CR620970,CR624958,CR625079,CR627459,D38585,D87061,U35048,HI574174 NP_904358,NP_006013,AAG53077,CAI12991,CAI16499,EAX08710,EAX08711,BAC02703,CAA10951,BAG52429,BAF83440,BAG35266,AAH00456,AAH16867,AAH69207,AAI05278,AAI36476,AAI36483,AAI46665,AAI46680,CAG32992,CAH10539,BAA07598,BAB46917,AAC50566,Q15714,CBX47576 Hs.507916 DKFZp686O19206|MGC17597|RP11-269C23.2|TGFB1I4|TSC22 TGFB-stimulated clone 22 homolog|TSC22 domain family 1, isoform 2|TSC22 domain family protein 1|cerebral protein 2|regulatory protein TSC-22|transforming growth factor beta 1 induced transcript 4|transforming growth factor beta-1-induced transcript 4 protein|transforming growth factor beta-stimulated protein TSC-22 protein-coding 1602336 TSC22D2 TSC22 domain family, member 2 18029348,15489334,12665801,12477932,9734811,20149264 9819 NM_014779,AC018545,CH471052,AB014569,AF201290,AF201291,AF201292,AK297383,AK297748,BC036355,BC044643 NP_055594,EAW78837,EAW78838,EAW78839,EAW78840,EAW78841,BAA31644,AAG41223,AAG41224,AAG41225,BAG59824,BAG60098,AAH44643,O75157 Hs.644065,Hs.722470 KIAA0669|TILZ4a|TILZ4b|TILZ4c OTTHUMP00000216357|TSC22 domain family 2|TSC22 domain family protein 2|TSC22-related-inducible leucine zipper protein 4 protein-coding 1605734 TSC22D3 TSC22 domain family, member 3 The protein encoded by this gene shares significant sequence identity with the murine TSC-22 and Drosophila shs, both of which are leucine zipper proteins, that function as transcriptional regulators. The expression of this gene is stimulated by glucocorticoids and interleukin 10, and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid and chemokine. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 8982256,19380724,19260870,18499442,18468809,17956870,17356131,16216878,16189514,15705665,15489334,15031210,14702039,12671681,12477932,12393603,12391160,11688842,11468175,11397794,11313722,11230166,9110174,8619474,19814803,19875485,20018851,20947508 1831 NM_198057,NM_004089,NM_001015881,CR603530,CR615973,CR616584,CR617964,CR619339,CR622973,CR933650,Z50781,CR602600,AL590423,CH471120,AB025432,AF153603,AF183393,AF228339,AK092645,AK092669,AK127938,AK300535,AK311834,AL110191,AY007119,BC018148,BC072446,BM047061,BQ919216,BX647854,CR533450,CR593498,CR595272,CR599119,CR600468 NP_932174,NP_004080,CAI45951,CAA90644,Q5JRJ0,Q5JRJ1,Q5JRJ2,Q99576,ACE87256,ACE86573,NP_001015881,CAI41541,CAI41542,CAI41543,CAI41544,EAX02704,EAX02705,EAX02706,EAX02707,EAX02708,BAB18680,AAD41085,AAD56234,AAG12456,BAC03934,BAG52587,BAG54599,BAG62243,BAG34776,CAB53669,AAH18148,AAH72446,CAG38481 Hs.728167 DIP|DKFZp313A1123|DSIPI|GILZ|TSC-22R|hDIP DSIP-immunoreactive leucine zipper protein|DSIP-immunoreactive peptide|OTTHUMP00000023814|OTTHUMP00000217940|OTTHUMP00000217948|OTTHUMP00000217950|OTTHUMP00000217951|TSC-22 related protein|TSC-22-like protein|TSC-22-related protein|TSC22 domain family protein 3|delta sleep inducing peptide, immunoreactor|delta sleep-inducing peptide immunoreactor|glucocorticoid-induced leucine zipper protein protein-coding 1601955 TSC22D4 TSC22 domain family, member 4 TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM] 21059936,16189514,16713569,10488076,18029348,15489334,12690205,12508107,12477932,11707329,19615732,20149264 81628 NM_030935,AC092849,CH236956,CH471091,AJ133115,AK296580,AK297702,AK314824,BC001486,BC001966,BC002972,BC010406,BC011974,BC031622,CR594978,CR595620,CR600230,CR606606,CR612991 NP_112197,EAL23831,EAW76527,EAW76528,EAW76531,CAB43491,BAG59200,BAG60060,AAH01486,AAH01966,AAH02972,AAH10406,AAH31622,Q8IV54,Q9Y3Q8,ABM82194,ABW03368 Hs.726025 THG-1|THG1|TILZ2 OTTHUMP00000196702|TSC22 domain family 4|TSC22 domain family protein 4|TSC22-related-inducible leucine zipper protein 2|tsc-22-like protein THG-1 protein-coding 1354310 TSC3 tuberous sclerosis 3 7250 1318440 TSEN15 tRNA splicing endonuclease 15 homolog (S. cerevisiae) tRNA splicing is a fundamental process required for cell growth and division. SEN15 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM] 18391951,17166513,16341674,16189514,15489334,15231748,15109492,14702039,12477932,11318611,15231747,20546612,16712791,17207965 116461 NR_023349,NM_052965,NM_001127394,AL157943,AL158011,CH471067,AF288394,AK098196,AK296655,AK307241,BC022030,BG285158,BM789892,BM887891,CB158796,CR606046,CR612120,CR620942 NP_443197,NP_001120866,CAI17874,CAI17875,CAI17876,CAI17862,CAI17863,EAW91173,EAW91174,EAW91175,AAG60614,BAG53590,BAG59252,AAH22030,Q8WW01,ADQ33166 Hs.548197 C1orf19|sen15 SEN15 homolog|hsSen15|tRNA-intron endonuclease Sen15|tRNA-splicing endonuclease subunit Sen15 protein-coding 1603298 TSEN2 tRNA splicing endonuclease 2 homolog (S. cerevisiae) This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. 17495927,16344560,15489334,15345747,15146197,15109492,14702039,12477932,12421765,9373149,8889548,8125298,18029348,17207965 80746 AK300449,BC004178,BC004211,BC019582,BC021975,BM671402,BX641631,CN341716,CR611882,DA063377,DA484093,DA614108,NM_001145394,NM_025265,NM_001145392,NM_001145395,NG_011521,AC018500,AC090947,CH471055,CQ783684,AK027821,AK074794,AK225875,AK291183,AK295508,NM_001145393 BAH12091,BAH13287,AAH04178,AAH04211,AAH19582,AAH21975,Q8NCE0,NP_001138865,NP_001138866,NP_079541,NP_001138864,NP_001138867,EAW64127,EAW64128,EAW64129,EAW64130,CAF86810,BAC11213,BAF83872,ADQ32388 Hs.335550 MGC2776|MGC4440|PCH2B|SEN2|SEN2L OTTHUMP00000207748|OTTHUMP00000207749|hsSen2|tRNA-intron endonuclease Sen2|tRNA-splicing endonuclease subunit Sen2 protein-coding 1348893 TSEN34 tRNA splicing endonuclease 34 homolog (S. cerevisiae) tRNA splicing is a fundamental process required for cell growth and division. SEN34 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM] 15489334,15109492,14702039,12477932,10941842,9373149,8889548,8125298,18711368 79042 NM_024075,NM_001077446,AC012314,CH471135,CU151838,CU457734,AF211970,AK025929,AK054944,AK225385,AK226013,AK300054,BC000944,BC004530,BC020805,BM977824,CR598135,CR600218,CR607949,CR619378,DB463309,BE779123,CA437038,NG_015810 NP_076980,NP_001070914,EAW72203,EAW72204,EAW72205,EAW72206,EAW72207,CAQ09596,CAP19124,BAB15284,BAG61863,AAH04530,AAH20805,Q9BSV6,ABM84262,ABM87651 Hs.15580 LENG5|PCH2C|SEN34|SEN34L OTTHUMP00000069333|OTTHUMP00000082767|hsSen34|leukocyte receptor cluster (LRC) member 5|leukocyte receptor cluster (lrc) member 5|leukocyte receptor cluster member 5|tRNA-intron endonuclease Sen34|tRNA-splicing endonuclease subunit Sen34 protein-coding 1602635 TSEN54 tRNA splicing endonuclease 54 homolog (S. cerevisiae) tRNA splicing is a fundamental process required for cell growth and division. SEN54 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM] 17495927,18711368,15489334,15109492,14702039,12477932,20956791 283989 NG_013041,NM_207346,AC100787,AK094466,AK097583,BC045551,BC047793,BC053643,BE247638,BE251582,BX424294,CV810347 NP_997229,BAC04362,BAG53490,AAH47793,AAH53643,Q7Z6J9 Hs.378501 FLJ37147|PCH2A|PCH4|SEN54L|sen54 SEN54 homolog|hsSen54|tRNA-intron endonuclease Sen54|tRNA-splicing endonuclease subunit Sen54 protein-coding 1346120 TSFM Ts translation elongation factor, mitochondrial Synthesis of the 13 mitochondrial-encoded proteins occurs on a dedicated mitochondrial translation apparatus similar to that found in prokaryotes and requires, in addition to the tRNAs and rRNAs encoded in mtDNA, the concerted action of several translation factors and a large number of mitochondrial ribosomal proteins, all of which are encoded by nuclear genes. The TSFM gene encodes a mitochondrial translation elongation factor (Smeitink et al., 2006 [PubMed 17033963]).[supplied by OMIM] 1580863 12477932,10965106,8889548,20877624,7615523,18029348,17033963,16632485,16583711,15489334,20843780 10102 NM_005726,AC025165,CH471054,AF110399,AK295323,AK304621,AK308981,AK313453,BC022862,BC093068,BM980630,CR592271,CR606259,CR622683,DB448773,L37936,HQ205906,HQ205907,HQ205908,HQ205909,HQ205910,HQ205911,HQ205912,HQ205913,HQ205914,HQ205915,HQ205916,HQ205917,HQ205918,HQ205919,HQ205920,HQ205921,HQ205922,HQ205923,HQ205924,HQ205925,HQ205926,HQ205927,HQ205928,HQ205929,HQ205930,HQ205931,HQ205932,HQ205933,HQ205934,HQ205935,HQ205936,HQ205937,HQ205938,HQ205939,HQ205940,HQ205941,HQ205942,HQ205943,HQ205944,HQ205945,NG_016971,NM_001172695,NM_001172696,NM_001172697 NP_005717,EAW97075,EAW97076,EAW97077,EAW97078,AAD20224,BAG58300,BAG65403,AAH22862,AAH93068,AAC37577,P43897,ADP91774,ADP91775,ADP91776,ADP91777,ADP91778,ADP91779,ADP91780,ADP91781,ADP91782,ADP91783,ADP91784,ADP91785,ADP91786,ADP91787,ADP91788,ADP91789,ADP91790,ADP91791,ADP91792,ADP91793,ADP91794,ADP91795,ADP91796,ADP91797,ADP91798,ADP91799,ADP91800,ADP91801,ADP91802,ADP91803,ADP91804,ADP91805,ADP91806,ADP91807,ADP91808,ADP91809,ADP91810,ADP91811,ADP91812,ADP91813,NP_001166166,NP_001166167,NP_001166168 Hs.632704 COXPD3|EF-TS|EF-Tsmt|EFTS|EFTSMT OTTHUMP00000202982|OTTHUMP00000202983|elongation factor Ts, mitochondrial|mitochondrial elongation factor Ts protein-coding 1349732 TSG101 tumor susceptibility gene 101 The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq] 2291848,2291849,2291852,2291854,2291847,2291851,2298534,2291856,1600429,1580863 20504928,16571837,16552148,16407257,16344560,16256744,16189514,16138902,16004603,15908698,15858022,15657031,15509564,15489334,15256501,15240819,15218037,15143060,15053872,15039775,14991575,14761944,14581576,14581525,14526201,14519844,14505570,14505569,12927808,12915533,12900395,12900394,12802020,12743307,12725919,12663786,12598123,12559917,12505256,12477932,12388682,12379843,12205095,12101421,12006492,11943869,11916981,11838966,11805336,11726971,14722278,16778200,19549727,19787439,20372822,10888872,12029088,15033475,17350572,15611048,15126635,18029348,19362095,19282983,19143632,18676680,18367816,18077552,17940959,17853893,17606716,17556548,17428861,17369844,17321722,17229889,17182691,17110434,17060450,17014699,16707569,11595185,11427703,11172000,11134028,10508170,10440698,9840940,9465061,9366528,9242438,9241265,9241264,9019400,17083721,16470130,16940516,16808324,16571793,16234236,15795524,18321968,19158374,14556380,13679614,18256029,18600204,19060904,19170196,19520058,19625176,19692168,19692479,20331378,20399684 2291848,2291849,2291852,2291854,2291847,2291851,2298534,2291856,1600429 7251 CR604898,CR606222,CR617651,CR619803,CR621064,CR623726,U82130,NM_006292,NG_012138,AC027544,CH471064,AK130787,AU138453,AY207473,AY207474,BC002487,CR590335,CR590804,CR594582,CR596481,CR598203 AAC52083,Q86SI0,Q99816,ABM83718,ABM87038,NP_006283,EAW68381,EAW68382,EAW68383,EAW68384,EAW68385,EAW68386,AAO59169,AAO59170,AAH02487 Hs.523512 TSG10|VPS23 ESCRT-I complex subunit TSG101|tumor susceptibility gene 101 protein|tumor susceptibility protein protein-coding 731470 TSGA10 testis specific, 10 1580863 11179690,18000009,16406020,16344560,16189514,15107545,12477932,16777103,20797700 80705 NM_025244,NM_182911,AC019097,AC092587,AC110083,CH471127,AF254756,AK313354,AY014284,BC028366,BI562202,BX647157,DB085678,DC396566,AK304328 NP_079520,NP_878915,AAY14820,EAX01888,EAX01889,EAX01890,EAX01891,EAX01892,AAK13079,BAG36156,AAK27309,AAH28366,Q9BZW7,ABM83039,ABM86233,BAH14161 Hs.120267 CEP4L|CT79 OTTHUMP00000203283|OTTHUMP00000203284|OTTHUMP00000203285|cancer/testis antigen 79|testis development protein NYD-SP7|testis-specific gene 10 protein protein-coding 1346501 TSGA10IP testis specific, 10 interacting protein 14702039,12477932 254187 AP006287,NM_152762,AK057442,BC104021,BC104022,BC104023,CH471076,HC007354,HC044723 NP_689975,EAW74473,BAB71488,AAI04023,AAI04024,Q3SY00,CBH19482,CBH30691 Hs.350671 FAM161C|FLJ32880|MGC120465|MGC120466|MGC120468 testis-specific protein 10-interacting protein|tsga10-interacting protein protein-coding 1314383 TSGA13 testis specific, 13 14962666,14702039,12690205,12477932,17207965 114960 NM_052933,AC009274,CH236950,CH471070,AF294347,AF431815,AK093329,BC038415,HC007356 NP_443165,EAL24084,EAW83771,EAW83772,AAK97089,AAP97305,BAG52691,AAH38415,Q96PP4,ADQ31603,CBH19483 Hs.592266 OTTHUMP00000207094|OTTHUMP00000207096|testis-specific A13|testis-specific gene 13 protein protein-coding 1346248 TSGA14 testis specific, 14 1580863 14654843,15489334,14702039,12690205,12477932,12034494,11076968,12221128,12852856,16462731,7790358 95681 NM_018718,AC007938,CH236950,CH471070,AF429308,AF429309,AJ278890,AK026098,AK298618,AK311382,AK314676,AL359617,AY186739,BC018789,BC056162,CR604501 NP_061188,EAL24088,EAW83764,AAM43959,AAM43960,CAC33567,BAB15359,BAG60797,BAG37230,CAB94886,AAO31692,AAH56162,Q9BYV8 Hs.368315 Cep41|DKFZp762H1311 OTTHUMP00000212519|centrosomal protein 41 kDa|centrosomal protein of 41 kDa|testis specific protein A14|testis-specific gene A14 protein protein-coding 732605 TSHB thyroid stimulating hormone, beta Thyrotropin-stimulating hormone (TSH) is a noncovalently linked glycoprotein heterodimer and is part of a family of pituitary hormones containing a common alpha subunit (TSHA; see MIM 118850) and a unique beta subunit that confers specificity.[supplied by OMIM] 1580863,1624160 11788671,18577758,4368999,2792087,19364510,19273570,17954417,16216492,16133148,15489334,15297803,15292359,14671302,12477932,12364478,11549695,11297590,11140838,9589689,8670056,8636437,8196184,5002675,3839756,3243440,3234176,2558651,2457586,1971148,1692298,890569,18240029,19730683,19837933,17207965,12036966,20534762,20553196 1624160 7252 NM_000549,AL109660,AY402762,CH471122,CQ873165,CS120870,M21024,M23669,M23670,M23671,M25164,S70587,X02866,X02867,BC069298,NG_015891 NP_000540,CAI22270,EAW56626,CAH56880,CAJ15134,AAA36782,AAB05845,AAA61235,AAB30828,CAA26618,CAA26619,AAH69298,P01222,ADQ32900 Hs.406687 CHNG4|TSH-BETA OTTHUMP00000013654|TSH-B|thyroid-stimulating hormone subunit beta|thyrotropin beta chain|thyrotropin beta subunit|thyrotropin subunit beta protein-coding 737021 TSHR thyroid stimulating hormone receptor The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580775,1580776,1580777,1580744,1580863 18627427,19187127,18528812,18514160,18497944,18466076,18441013,18390987,18381815,18379122,18306976,18175146,18162522,18074395,18025759,17953807,17938324,17932107,17902201,17803697,17725428,17697008,17696839,17570630,17526952,17521325,17456567,17408423,17408420,17392608,17079233,17042691,16955277,16899458,16756474,16756473,16756469,16513835,16320156,16150909,16106256,16060907,15911145,20691434,20719860,20392871,20179143,20429628,12036966,19636218,20538910,20926595,8552586,7920658,19550078,19527514,19499991,19492584,19453261,19417038,19386596,19351817,19328414,19244275,19240155,19178511,19158199,19066298,19019335,19015922,18989620,18976153,18927215,18925838,18818748,18768899,18759693,18727713,18710471,18694911,18681856,18652889,18606720,15889138,15879364,15779008,15741259,15531543,15498884,15384882,15345720,15319351,15297445,15163335,14759073,14725684,14654252,14633662,14576174,12960016,12933676,12930595,12813025,12804102,12790806,12788902,12762632,12727856,12709678,12668683,12629076,12593721,12589819,12558129,12477932,12432093,12383251,12242030,12240901,12223484,12213664,12081236,12050212,12045258,12039695,11981027,11923470,11923469,11917095,11887032,11847099,11814624,11716047,11716039,11549687,11517004,11502179,11442002,11434721,11201847,11128715,11127522,11095460,11081252,11081251,11022192,10946859,10870027,10852462,10809230,10720030,10651846,10595453,10560955,10487707,10199795,10037070,10037069,9854118,9837919,9589634,9525885,9398746,9360555,9349581,9329388,9294132,9253356,9185526,9100579,9062474,8964822,8954020,8770884,8747461,8636266,8496155,8413627,8327473,8188646,8045989,7989485,7800007,7647578,7565801,7556878,7528344,7508946,7488864,2610690,2558651,2302212,2293030,2249482,1955520,1697467,1651314,1570295,1530609,1445355,15775968,14604818,18240029,19214582,19506388,19633293,19641516,19730683,19820021,19826830,19837933,19896111,19955180,20336923,20379614,19438904,17207965,20140262,20716560,20615127,20395239 1580775,1580776,1580777,1580744 7253 NM_001142626,NM_001018036,NG_009206,AB065589,AC007262,AC010072,AC010582,AL136040,CH471061,AB209207,AF035261,AY429111,BC009237,BC024205,BC063613,BC108653,BC120972,BC120973,BC127628,BC127629,BC141970,M31774,M32215,M73747,R51015,S45272,S49816,S82807,NM_000369 NP_000360,NP_001136098,NP_001018046,BAC05818,AAD31568,AAF09032,AAF26775,EAW81333,BAD92444,AAB87990,AAR07906,AAH09237,AAH24205,AAH63613,AAI08654,AAI20973,AAI20974,AAI27629,AAI41971,AAA36783,AAA61236,AAA70232,AAB23390,AAB24246,O43200,P16473,Q0VAP8,Q16503,Q4ZIL0,Q59GA2,Q8NH23,Q8TB90,Q96GT6,AAI56780,ADQ32529 Hs.160411 CHNG1|LGR3|MGC75129|hTSHR-I TSH-R|seven transmembrane helix receptor|thyroid stimulating hormone receptor, isoform 2|thyroid stimulating hormone, receptor|thyroid-stimulating hormone receptor|thyrotropin receptor|thyrotropin receptor-I, hTSHR-I protein-coding 1354192 TSHRL1 thyroid stimulating hormone receptor-like 1 7254 1344012 TSHRL2 thyroid stimulating hormone receptor-like 2 7255 1346495 TSHRL3 thyroid stimulating hormone receptor-like 3 7256 1323269 TSHZ1 teashirt zinc finger homeobox 1 This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. [provided by RefSeq] 18029348,17586487,14702039,12477932,9610721,9373149,8889548,8125298,19343227,20379614 10194 NM_005786,AC025105,AB210042,AF039698,AK127042,AK223545,AL833321,BC010679,BC024152,BU736177 NP_005777,BAE06124,AAC18047,BAC86800,BAD97265,AAH24152,Q6ZSZ6,AAI52773,AAI56589 Hs.284217 NY-CO-33|SDCCAG33|TSH1 antigen NY-CO-33|serologically defined colon cancer antigen 33|teashirt homolog 1 protein-coding 1353516 TSHZ2 teashirt zinc finger homeobox 2 19343227,19745106,19862010,20379614,11181995,16344560,15561718,14702039,12477932,11780052,9671742,19913121,20628086 128553 AK302570,AY926481,BQ574274,CS300680,NM_001193421,NM_173485,AL050316,AL109930,AL121902,AL354772,AL354993,AL391097,BX276189,CH471077,AF230201,AK091206,BX486483,BX640770,BX648148,DA647113 BAH13747,AAX10026,CAK32344,CAM28286,EAW75583,NP_001180350,NP_775756,CAI95385,CAI95730,EAW75584,AAF76850,BAC03610,CAE45871,Q9NRE2,AAI60051 Hs.473117,Hs.649877 C20orf17|DKFZp686K2480|FLJ33887|OVC10-2|TSH2|ZABC2|ZNF218 OTTHUMP00000031714|cell growth-inhibiting protein 7|ovarian cancer-related protein 10-2|serologically defined colon cancer antigen 33 like|teashirt family zinc finger 2|teashirt homolog 2|zinc finger protein 218 protein-coding 1314877 TSHZ3 teashirt zinc finger homeobox 3 17081983,16381901,15489336,15146197,12477932,11230166,11076863,10819331,20877624,18029348,19343227,19734545,19745106 57616 NM_020856,AC025809,AB040907,AI015687,AK291466,AL136805,BC127095,BC127096,BX648745,CN256026,CR626691,AK293267 NP_065907,BAA95998,BAF84155,CAB66739,AAI27096,AAI27097,CAH56184,Q63HK5,CAL38448,BAG56797 Hs.278436 FLJ54422|KIAA1474|TSH3|ZNF537 teashirt 3|teashirt family zinc finger 3|teashirt homolog 3|zinc finger protein 537 protein-coding 1347301 TSIX XIST antisense RNA (non-protein coding) In mammals, dosage compensation of genes on the X chromosome occurs by X inactivation, which is regulated in cis by the X-inactivation center (XIC) and expression of the XIST non-coding RNA. This gene expresses a non-coding antisense transcript across the 3' end of the XIST locus, and is coexpressed with XIST only from the inactive X chromosome. The mouse ortholog of this locus is required for imprinted X inactivation in extraembryonic tissues and silences Xist through modification of the chromatin structure in the Xist promoter region. In contrast, imprinted X inactivation does not occur in human extraembryonic tissues and transcripts from this locus do not repress XIST expression or affect random X chromosome inactivation in embryonic cells. This transcript is thought to be unspliced and extend over more than 30 kb, but its exact nature has not been determined. [provided by RefSeq] 12610550,12023758,11743158,11555794,10737800,10192391,7566098 9383 NR_003255,AL353804,AL356513,AL683895,U80460,AA357843,AV731454 Hs.529901 NCRNA00013|XIST-AS|XISTAS miscrna 1602690 TSKS testis-specific serine kinase substrate This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq] 18533145,15044604,17474147,18495105,15489334,12477932,11444856 60385 NM_021733,AC011495,AF200923,CH471177,AF411384,BC058862,HC007358 NP_068379,AAF12819,EAW52534,AAL60464,AAH58862,Q9UJT2,CBH19484 Hs.515858 STK22S1|TSKS1|TSSKS STK22 substrate 1|testis specific serine/threonine kinase substrate|testis-specific kinase substrate|testis-specific serine kinase substrate protein-coding 1601763 TSKU tsukushin 16303743,15489334,15231748,14702039,12975309,12477932,11085516,19710929 25987 AP003119,CH471076,AF191019,AK075476,AK091475,AK126536,AK313405,AL110276,AY358317,NM_015516,BC020975,BT007440 NP_056331,EAW75005,EAW75006,EAW75007,AAF09483,BAG52149,BAG52371,CAB53711,AAQ88683,AAH20975,AAP36108,Q8WUA8 Hs.8361 E2IG4|LRRC54|TSK E2-induced gene 4 protein|leucine rich repeat containing 54|leucine-rich repeat-containing protein 54|tsukushi homolog|tsukushi, small leucine rich proteoglycan|tsukushin protein-coding 1604556 TSLP thymic stromal lymphopoietin This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq] 20444169,20444170,18445339,18244952,18060034,18049884,17666213,17635955,20974963,20555350,19763625,20228393,19348931,19155513,19056108,19055649,18941246,18832690,18832669,18802348,18802347,18802341,18787178,18768889,18757306,18720075,18684970,17513717,17513456,17416344,17320941,17213320,16785889,15944327,15741223,14999427,12707303,12477932,12055625,11480573,11418668,10570284,19968632,17959543,18482256,19164348,19187393,19198610,19423540,19539984,19555430,19561109,19741251,19770269,19841072,19857905,20079130,20086239,20109311,20127673,20146705,20173030,20208534,20236697,20406964,20438785,20466416,20538796,20660708,20560908,20624642,20656951,20816195,21085187,20098747 85480 NM_033035,AC008572,CH471086,AF338732,AL833421,AY037115,BC016720,BC022894,BC040592,BF245025,BU571002,NR_033425,CS390620,CS403714,FB735793,GN090295,HD117895,HH762798 NP_149024,EAW49037,EAW49038,AAK60617,AAK67490,AAH16720,AAH22894,AAH40592,Q969D9,Q96AU7,CAL40434,CAL44818,CAV31018,CAX87027,CBX74361,CBX78818 Hs.389874 OTTHUMP00000158999|thymic stromal lymphopoietin protein-coding 1351634 TSN translin This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. 1580863 7663511,16411762,16218753,15919079,15815621,15544804,15489334,15138261,15039555,14711818,14702039,12532453,12484770,20932654,11705401,11278549,11126370,10767349,10434033,9373149,12477932,11876655,9244443,9111049,9013868,8134113,8125298,7947454,11801738,19805324 7247 AC018737,CH471103,Y12563,AK091915,AK222868,AK307344,AK311410,AK315763,AL122099,BC002359,BT019490,BT019491,NM_004622,X78627,X95076,AK296469,AK298812 NP_004613,AAY14831,EAW95262,EAW95263,CAA73150,BAG52440,BAD96588,AAH02359,AAV38297,AAV38298,CAA55341,Q15631,Q53GR3,BAH12364,BAH12875 Hs.75066 BCLF-1|RCHF1|REHF-1|TBRBP|TRSLN OTTHUMP00000203715|OTTHUMP00000203716|recombination hotspot associated factor|recombination hotspot-binding protein|translin protein-coding 1606429 TSNARE1 t-SNARE domain containing 1 16344560,14702039,12477932 203062 AC134682,NM_145003,AC103758,AC129918,AC145290,CH471162,AK055726,BC065226,BC113556,BC126343,BC143684,BC143686,DA229159 NP_659440,EAW82324,BAB70997,AAH65226,AAI13557,AAI26344,AAI43685,AAI43687,A0AVG3,Q6P186,Q96NA8,ADR83212 Hs.370931 FLJ31164|MGC142116 t-SNARE domain-containing protein 1 protein-coding 1346427 TSNAX translin-associated factor X This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq] 1580863 9013868,17673452,16275808,16189514,15919079,15838535,15561718,15489334,14711818,14642810,12477932,12036294,11801738,11278549,11043515,10945471,19255581,19615732,19760522,19805229,20398908,20691427 7257 NM_005999,AF222988,AF271269,AL445524,AL626763,CH471098,AK313068,BC010376,BC011797,BX537610,X95073 NP_005990,AAF91233,AAK58640,CAH72107,CAH72108,CAH70959,EAW69961,EAW69962,EAW69963,EAW69964,BAG35896,AAH10376,AAH11797,CAD97797,CAA64469,Q5VVQ1,Q7Z3N9,Q99598 Hs.96247 DISC1|TRAX OTTHUMP00000037483|disrupted in schizophrenia 1|translin-associated protein X|translin-like protein protein-coding 1348366 TSNAXIP1 translin-associated factor X interacting protein 1 16344560,12477932,12036294 55815 NM_018430,AC040162,CH471092,AF132730,AK027245,AK301920,AK303841,BC035320,BC050693,BC051766,BC062628,BC111018,DA200633,AK302300 NP_060900,EAW83169,EAW83170,EAW83171,EAW83172,EAW83173,EAW83174,EAW83175,EAW83176,EAW83177,AAF66441,BAG63342,BAG64785,AAI11019,Q2TAA8,BAG63640 Hs.632212 MGC111443|TXI1 translin-associated factor X-interacting protein 1|trax-interacting protein 1 protein-coding 1605685 TSP50 testes-specific protease 50 18662669,18462069,15491742,15489334,14702039,12477932,11782390,10397268,17283160 29122 NM_013270,AC134504,CH471055,CQ964262,AF100707,BC033016,BC037775 NP_037402,EAW64782,CAI30701,AAF22500,AAH33016,AAH37775,Q9UI38,ABW03298 Hs.120365 CT20|TSP50 OTTHUMP00000214804|cancer/testis antigen 20|probable threonine protease PRSS50|serine protease 50|testes specific protease 50|testes-specific protease 50|testis-specific protease-like protein 50 protein-coding 1354320 TSPAN1 tetraspanin 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq] 1580863 17207965,9714763,19139842,19017553,18822690,17913940,15489334,12477932,12115476,11739647,10719184,16341674,18851943,19508227 10103 NM_005727,AL672043,CH471059,AF054838,AF065388,AF133425,AK313774,BC000695,BC007290,BC013404,BM856468,BM908049 AAC17119,O60635,NP_005718,CAH72468,EAX06938,EAX06939,EAX06940,EAX06941,AAC69714,AAF08364,BAG36512,AAH07290,AAH13404,ADQ33140,ACE87686,ACE86997 Hs.38972 9030418M05Rik|NET-1|NET1|RP11-322N21.1|TM4C|TM4SF|TSPAN-1 OTTHUMP00000008900|tetraspan 1|tetraspanin-1 protein-coding 1602455 TSPAN10 tetraspanin 10 16344560,14702039,12477932,12107410 83882 NM_031945,AC139530,CH471099,AF325213,AK096926,BC021923,BC032802,BG760374,DA912496 NP_114151,EAW89665,AAG42857,AAH21923,AAH32802,Q6PJ65,Q9H1Z9 Hs.208219 FLJ39607|OCSP oculospanin|tetraspanin-10|tspan-10 protein-coding 1604416 TSPAN11 tetraspanin 11 14702039,12975309,12477932 441631 NM_001080509,AC008013,AC008150,AK024399,AK293947,AK300920,AY358804,BC127660,BC127661,BC146917,BC146922 NP_001073978,BAG57324,BAG62552,AAQ89164,AAI27661,AAI27662,AAI46918,AAI46923,A1L157 Hs.505141 VSSW1971 tetraspanin-11|tspan-11 protein-coding 1322379 TSPAN12 tetraspanin 12 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq] 1580863 19587294,20159111,20159112,10719184,19401682,12975309,12853948,12690205,12477932,11739647,9847074,19837033 23554 NG_023203,NM_012338,AC004456,CH236947,CH471070,AF124522,AK299247,AK307161,AK312239,AY358703,BC031265,BF338835,BI964728 NP_036470,AAQ96879,EAL24349,EAW83543,EAW83544,EAW83545,AAD17317,BAG61278,BAG35172,AAQ89066,AAH31265,O95859,ABM84625 Hs.16529 EVR5|NET-2|NET2|TM4SF12 OTTHUMP00000211224|OTTHUMP00000211229|tetraspan NET-2|tetraspanin-12|transmembrane 4 superfamily member 12|tspan-12 protein-coding 1323423 TSPAN13 tetraspanin 13 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq] 1580863 10719184,19148481,17486367,16303743,15958618,15489334,14702039,12975309,12690205,12477932,11739647,10931946,8889548,27075 27075 NM_014399,AC073333,CH236948,CH471073,AF100759,AF120265,AK026587,AK075475,AK093487,AK316595,AY358995,BC033863,CB852023,CR542107,CR591620,CR597593,CR598448,CR598804,CR600961,CR602288,CR610283,CR612419,CR612597,CR612760,CR614170 NP_055214,EAL24284,EAW93680,EAW93681,AAD43023,AAD17294,BAG52148,BAG38182,AAQ89354,AAH33863,CAG46904,O95857,Q6FGK0,ABM82985,ABM86178 Hs.364544 FLJ22934|NET-6|NET6|TM4SF13 tetraspan NET-6|tetraspanin-13|transmembrane 4 superfamily member 13|transmembrane 4 superfamily member tetraspan NET-6|tspan-13 protein-coding 1342494 TSPAN14 tetraspanin 14 737633,1580863 16303743,15489334,14702039,12477932,11230166,19473719 737633 81619 NM_030927,NM_001128309,AC021028,CH471142,AF311903,AK025157,AK055330,AK074558,AK295321,AL136638,BC002920,BC093016,BI918996,CR612301,DC300676,AK026621 NP_112189,NP_001121781,EAW80384,EAW80385,EAW80386,EAW80387,EAW80388,EAW80389,AAM94899,BAC11059,BAG58298,CAB66573,AAH02920,AAH93016,Q8NG11 Hs.310453 DC-TM4F2|MGC11352|TM4SF14 OTTHUMP00000019983|OTTHUMP00000019984|OTTHUMP00000019986|tetraspanin similar to TM4SF9|tetraspanin-14|transmembrane 4 superfamily member 14|tspan-14 protein-coding 1351907 TSPAN15 tetraspanin 15 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1580863 16385451,10719184,15489334,12975309,12477932,11739647,17207965,12037680 23555 NM_012339,AC016821,CH471083,AF120266,BC003157,BC004161,BI457070,CR592571,CR606540,CR614566,CR621092,CR624920 NP_036471,EAW54326,EAW54327,AAD17295,AAH03157,AAH04161,O95858,ADQ31646 Hs.499941 2700063A19Rik|NET-7|NET7|TM4SF15 OTTHUMP00000197068|tetraspan NET-7|tetraspanin-15|transmembrane 4 superfamily member 15|transmembrane 4 superfamily member tetraspan NET-7|tspan-15 protein-coding 1349307 TSPAN16 tetraspanin 16 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. [provided by RefSeq] 737633,1580863 10500248,12477932 737633 26526 NM_012466,AC011472,AC024575,AC098777,CH471106,BC029908,HC007360,HC044645 NP_036598,EAW84187,AAH29908,Q8N6J7,Q9UKR8,CBH19485,CBH30652 Hs.579784 TM-8|TM4-B|TM4SF16 tetraspanin TM4-B|tetraspanin-16|transmembrane 4 superfamily member 16|tspan-16 protein-coding 1346680 TSPAN17 tetraspanin 17 17207965,17353931,10531035,14702039,12477932,11214971,10531037 26262 NM_012171,NM_001006616,NM_130465,AC091934,CH471195,AF174603,AK024427,AY037146,BC010405,BC067105,BI756001,BU624765,CR599209,BG703362,CA417292,CT002861 ADQ32153,NP_036303,NP_001006617,NP_569732,EAW85053,EAW85054,EAW85055,EAW85056,EAW85057,EAW85058,EAW85059,EAW85060,EAW85061,AAF04524,BAB15717,AAK67627,AAH10405,AAH67105,Q96FV3,Q9H7Q1 Hs.532129 FBX23|FBXO23|MGC14859|MGC71255|TM4SF17 F-box only protein 23, transmembrane 4 superfamily member 17|OTTHUMP00000223388|OTTHUMP00000223389|OTTHUMP00000223391|OTTHUMP00000223392|OTTHUMP00000223393|tetraspan protein SB134|tetraspanin-17|transmembrane 4 superfamily member 17|tspan-17 protein-coding 1605907 TSPAN18 tetraspanin 18 19240061,16303743,14702039,12975309,12477932,11756464,16344560,20379614 90139 NM_130783,AC092733,CH471064,AK027715,AK075547,AY358087,BC019342,AK027515,BF110241,CR597335,CS300560,DA067480,DA603407,DA734054 NP_570139,EAW68058,EAW68059,EAW68060,EAW68061,EAW68062,BAB55318,BAC11690,AAQ88454,AAH19342,Q8WUV1,Q96SJ8,CAK32224 Hs.385634 FLJ14609|TSPAN tetraspanin-18|tspan-18 protein-coding 1606713 TSPAN19 tetraspanin 19 16541075,14702039,8889548 144448 NM_001100917,AC025418,CH471054,AK126325,BX116902,CB852874,CB854430 NP_001094387,EAW97391,P0C672 Hs.156962 FLJ44351 putative tetraspanin-19|tspan-19 protein-coding 1344307 TSPAN2 tetraspanin 2 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq] 1580863 9714763,16710414,15489334,14702039,12477932,11756464,11739647,20237496,20379614 10100 NM_005725,AL109660,CH471122,CQ834272,AF054839,AK022144,AK315385,BC021675,BG697236,BQ067895,GU971730 NP_005716,CAI22271,CAI22272,CAI22273,EAW56627,CAH05351,AAC69715,BAG37778,AAH21675,O60636,ABM84616,ABM84617,ABM84618,ABM84619,ABW03588,ADF80915 Hs.310458 6330415F13Rik|FLJ12082|NET3|RP4-666F24.2|TSN2|TSPAN-2 OTTHUMP00000038317|new EST tetraspan 3|tetraspan 2|tetraspan NET-3|tetraspan TM4SF|tetraspanin 2 isoform|tetraspanin-2 protein-coding 1602131 TSPAN3 tetraspanin 3 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq] 16303743,16189514,15489334,14702039,12477932,11739647,1840594,11309411,16344560,9714763,17207965 10099 NM_198902,NM_005724,AC090181,CH471136,AF054840,AF133423,AK001305,AK001310,AK001326,AK027793,AK075336,AA554982,AK293677,AK298157,DA359645,DB449004,NM_001168412,BC000704,BC004280,BC009248,BC011206,CR592346,CR593647,CR597854,CR598055,CR598993,CR604332,CR605322,CR607094,CR607633,CR609168,CR609189,CR613227,CR614268,CR619401,CR620957,CR621960,CR622572,CR625746,M69023,AK075482 NP_944492,NP_005715,EAW99209,EAW99210,EAW99211,AAC69716,AAF08362,BAA91613,BAA91615,BAA91627,BAG52114,BAG57119,BAG60431,NP_001161884,BAG52152,AAH00704,AAH04280,AAH09248,AAH11206,O60637,ADQ31731 Hs.5062 TM4-A|TM4SF8|TSPAN-3 tetraspan 3|tetraspan TM4SF|tetraspanin TM4-A|tetraspanin-3|transmembrane 4 superfamily member 8 protein-coding 1320454 TSPAN31 tetraspanin 31 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq] 1580863 19913121,20628086,8134123,15489334,15024701,14702039,12477932,11337467,10101594,9989829,9192850,7789984,7531445,1661131,20237496 6302 NM_005981,AC025165,CH471054,S78432,U81031,AA811975,AB209699,AK090502,AK294128,AK315765,AU098749,BC010377,BX647402,CR407647,CR592832,CR616737,CR623983,U01160 NP_005972,EAW97054,EAW97055,EAW97056,EAW97057,AAD14281,AAC39524,BAD92936,BAG57458,BAG38117,AAH10377,CAG28575,AAA17782,Q12999,Q53X76,Q59EW2,ABM83803,ABM87126 Hs.632708 SAS sarcoma amplified sequence|sarcoma-amplified sequence|tetraspanin-31|transmembrane 4 protein|tspan-31 protein-coding 1318659 TSPAN32 tetraspanin 32 This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq] 1580863 10950922,15489334,14759258,12477932,11718897,10915772,10072438,9403053,8469989,20709950 10077 NM_139022,AC129929,CH471158,AA701395,AF125569,AF176070,AF176071,AK128812,AK298692,AK307638,AK310116,AY039001,AY303780,BC016693,BG506933,CR606621 NP_620591,EAX02498,EAX02499,EAX02500,EAX02501,EAX02502,EAX02503,EAX02504,EAX02505,AAD23580,AAG15840,AAG15841,BAG60852,AAK84431,AAP76185,AAH16693,Q7Z5M9,Q96QS1 Hs.271954 ART1|FLJ17158|FLJ97586|MGC22455|PHEMX|PHMX|TSSC6 OTTHUMP00000069770|OTTHUMP00000198686|pan-hematopoietic expression protein|protein Phemx|tetraspanin-32|tspan-32|tumor-suppressing STF cDNA 6|tumor-suppressing subchromosomal transferable fragment cDNA 6|tumor-suppressing subtransferable candidate 6 protein-coding 1604171 TSPAN33 tetraspanin 33 17207965,17158226,16242907,16213355,15489334,12690205,12477932 340348 NM_178562,AC011005,CH236950,CH471070,AF276891,AK000208,AY236849,BC044244,CR609044 ADQ33116,NP_848657,EAL24103,EAW83712,EAW83713,EAW83714,AAQ14314,AAO91940,AAH44244,Q86UF1 Hs.27267 MGC50844|PEN hPen|penumbra|proerythroblast new membrane|tetraspanin-33|tspan-33 protein-coding 1314069 TSPAN4 tetraspanin 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 9360996,16341674,15489334,14702039,14671302,12477932,11739647,11591653,10741407,10734060,10229664,9714763,20237496 7106 NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237,AP006623,AY415329,CH471158,AF022813,AF054841,AK054788,AK095212,AK126456,AK291089,AL543667,AW204812,BC000389,BC019314,BC093031,BF530006,BG752017,BI820547,BM555783,BM755435,BQ679002,BT006776,CR457108 NP_003262,NP_001020410,NP_001020409,NP_001020407,NP_001020406,NP_001020405,NP_001020408,EAX02409,EAX02410,EAX02411,AAC51864,AAC69717,BAF83778,AAH00389,AAH19314,AAH93031,AAP35422,CAG33389,O14817 Hs.654836 NAG-2|NAG2|TETRASPAN|TM4SF7|TSPAN-4 OTTHUMP00000164428|OTTHUMP00000205756|OTTHUMP00000205758|novel antigen 2|tetraspan TM4SF|tetraspanin-4|transmembrane 4 superfamily member 7 protein-coding 1602132 TSPAN5 tetraspanin 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 15489334,14702039,12477932,11739647,10719184,9714763,20379614,17207965 10098 NM_005723,AC058823,AC074120,AC108159,AC114811,AF053455,CH471057,AF065389,AK055659,AK126702,AK315723,BC009704,CR541809,CR541829,AI089708,AK295385 NP_005714,AAC69712,EAX06074,AAC17120,BAG38079,AAH09704,CAG46608,CAG46628,P62079,Q6FHC5,ACE87522,ACE86835,BAH12053,ADQ31851 Hs.118118 NET-4|NET4|TM4SF9|TSPAN-5 OTTHUMP00000219690|OTTHUMP00000219691|tetraspan 5|tetraspan NET-4|tetraspan TM4SF|tetraspanin-5|transmembrane 4 superfamily member 9|transmembrane 4 superfamily, member 8 protein-coding 1347181 TSPAN6 tetraspanin 6 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1580863 12761501,16303743,15772651,15489334,12975309,12477932,11739647,9782095,9714763,16169070 7105 NM_003270,NG_012534,AL035608,CH471115,AB097016,AB209876,AF043906,AF053453,AF133426,AK075072,AK299176,AK300852,AK309581,AK315773,AY358825,BC012389,BT006977,CR457115,CR597714,CR598712,CR598720,CR604634,U84895 NP_003261,CAB55681,EAX02809,EAX02810,EAX02811,BAC77369,BAD93113,AAC64257,AAC69710,AAF08365,BAG52059,BAG61222,BAG62503,AAQ89184,AAH12389,AAP35623,CAG33396,AAD00560,O43657,Q59ED5,ABM81594,ABM84775 Hs.43233 T245|TM4SF6|TSPAN-6 A15 homolog|putative NF-kappa-B-activating protein 321|tetraspan TM4SF|tetraspanin TM4-D|tetraspanin-6|transmembrane 4 superfamily member 6 protein-coding 1352570 TSPAN7 tetraspanin 7 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq] 1580863 8420826,10617319,19339915,15489334,14735593,12777533,12477932,12070254,11739647,11387256,11161835,10655063,10449641,10229664,8325628,8168850,7768645,17353931,16169070,19535787,19736351,20479760,20630051 7102 AB102536,AB102537,AB102538,AB102539,AB102540,AF241726,AF241727,AJ250562,CH471141,AA757687,AB062057,AB102665,NM_004615,NG_009160,AB102401,AB102402,AB102403,AB102404,AB102405,AB102406,AB102407,AB102408,AB102409,AB102410,AB102411,AB102412,AB102413,AB102414,AK293534,AK293552,AK293178,AK312343,BC018036,CR591325,CR592323,CR592630,CR593575,CR593720,CR594487,CR597746,CR598598,CR601223,CR601568,CR602586,CR602890,CR604054,CR605008,CR605058,CR605223,CR607095,CR607558,CR609362,CR610848,CR613148,CR614151,CR617607,CR621497,CR624425,CR626412,D10653,D29808,DB475293,L10373,AB102415,AB102416,AB102417,AB102418,AB102419,AB102420,AB102461,AB102462,AB102463,AB102464,AB102465,AB102466,AB102467,AB102468,AB102469,AB102470,AB102471,AB102472,AB102473,AB102474,AB102475,AB102476,AB102477,AB102478,AB102479,AB102480,AB102491,AB102492,AB102493,AB102494,AB102495,AB102496,AB102497,AB102498,AB102499,AB102500,AB102501,AB102502,AB102503,AB102504,AB102505,AB102506,AB102507,AB102508,AB102509,AB102510,AB102521,AB102522,AB102523,AB102524,AB102525,AB102526,AB102527,AB102528,AB102529,AB102530,AB102531,AB102532,AB102533,AB102534,AB102535 BAC81005,BAC81006,BAC81007,BAC81008,BAC81009,CAB65594,EAW59437,EAW59438,BAB55824,BAB55825,BAC81004,NP_004606,BAC80900,BAC80901,BAC80902,BAC80903,BAC80904,BAC80905,BAC80906,BAC80907,BAC80908,BAC80909,BAC80910,BAC80911,BAC80912,BAC80913,BAG57016,BAG57029,BAG56721,BAG35264,AAH18036,BAA01501,BAA06191,P41732,Q7Z2D9,Q7Z2E9,Q7Z2I5,Q7Z2J5,Q7Z3Z6,ABM83019,ABM86497,BAC81134,BAC80914,BAC80915,BAC80916,BAC80917,BAC80918,BAC80919,BAC80930,BAC80931,BAC80932,BAC80933,BAC80934,BAC80935,BAC80936,BAC80937,BAC80938,BAC80939,BAC80940,BAC80941,BAC80942,BAC80943,BAC80944,BAC80945,BAC80946,BAC80947,BAC80948,BAC80949,BAC80960,BAC80961,BAC80962,BAC80963,BAC80964,BAC80965,BAC80966,BAC80967,BAC80968,BAC80969,BAC80970,BAC80971,BAC80972,BAC80973,BAC80974,BAC80975,BAC80976,BAC80977,BAC80978,BAC80979,BAC80990,BAC80991,BAC80992,BAC80993,BAC80994,BAC80995,BAC80996,BAC80997,BAC80998,BAC80999,BAC81000,BAC81001,BAC81002,BAC81003 Hs.441664 A15|CCG-B7|CD231|DXS1692E|MRX58|MXS1|TALLA-1|TM4SF2|TM4SF2b CD231 antigen|OTTHUMP00000219544|T-cell acute lymphoblastic leukemia associated antigen 1|T-cell acute lymphoblastic leukemia-associated antigen 1|cell surface glycoprotein A15|membrane component chromosome X surface marker 1|membrane component, X chromosome, surface marker 1|tetraspanin protein|tetraspanin-7|transmembrane 4 superfamily 2b|transmembrane 4 superfamily member 2|transmembrane protein A15|tspan-7 protein-coding 736010 TSPAN8 tetraspanin 8 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1580863 2395876,8661157,19502414,19324937,19247373,19020324,19020323,18714373,18591388,18567820,18372903,18365756,18317468,17579117,15489334,12939584,12477932,20581827,11739647,11690710,10229664,9373149,8125298,19602701,19670153,19720844,19741467,19794065,19833888,19833889,19862325,19933996,20052686,20075150,20161779,20203524,20360734,20379614,20490451,20712903,20879858,20889853,20927120,20571754,20816152 7103 NM_004616,AC025575,CH471054,AK223022,AK313112,BC005246,BC070168,M35252 NP_004607,EAW97257,BAD96742,BAG35934,AAH05246,AAA35709,P19075,Q53GA9 Hs.170563 CO-029|TM4SF3 tetraspanin-8|transmembrane 4 superfamily member 3|tspan-8|tumor-associated antigen CO-029 protein-coding 1602896 TSPAN9 tetraspanin 9 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq] 10719184,19204726,18799160,18795891,15489334,12477932,11739647,9373149,8125298,19851296,20198315 10867 NM_006675,AC005865,AC005912,AC125807,CH471116,AF089749,AF217967,AK027366,AK223179,AW025505,AY523992,BC034280,BC071881,CR542109,CR612167,NM_001168320 NP_006666,EAW88867,EAW88868,EAW88869,AAC35859,AAG17210,BAG51307,BAD96899,AAT01541,AAH71881,CAG46906,O75954,Q9HBT2,NP_001161792 Hs.504517 NET-5|NET5|PP1057 OTTHUMP00000197072|new EST tetraspan 5|tetraspan NET-5|tetraspanin-9|transmembrane 4 superfamily member tetraspan NET-5|tspan-9 protein-coding 737564 TSPO translocator protein (18kDa) Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1358442,1580863 20056222,20222126,20491643,20877624,20600583,1326278,16822554,8307574,19598235,19077109,18806692,18791274,18256758,18158327,18054208,17561806,16919618,16868661,16511838,16189298,15769477,15648546,15489334,15473257,15461802,15296476,15041726,14688214,14626449,14584048,12547158,12477932,12374690,11304832,11215759,10591208,9915832,9027587,8121239,7721091,3018615,1847678,1654492,19170196,18670869,19525461,19525468,19617321,19668118,19692168,19789311,19846611,20085808,20424634,7626442 1358442 706 NM_000714,NM_007311,AB076379,AB076380,AB076381,AY383615,CH471138,L21951,L21954,U12421,Z82214,AF075589,AF075590,AY998017,BC001110,BQ057964,BT006949,CR456409,CR457007,CR590116,CR607955,CR609727,CR617902,CR619651,CR621254,L21950,M36035 NP_000705,NP_009295,BAC00957,BAC00958,BAC00959,AAQ75703,EAW73288,EAW73289,EAW73290,AAA18228,AAA83252,CAB55884,CAQ09716,CAQ09717,AAC31172,AAC31173,AAY45787,AAH01110,AAP35595,CAG30295,CAG33288,AAA18227,AAA03652,O76068,P30536,Q13850,Q8N167,Q8N730,ABM81639 Hs.202 BPBS|BZRP|DBI|IBP|MBR|PBR|PBS|PKBS|PTBR|mDRC|pk18 OTTHUMP00000198251|benzodiazepin receptor|benzodiazepine peripheral binding site|mitochondrial benzodiazepine receptor|peripheral benzodiazepine receptor|peripheral-type benzodiazepine receptor|translocator protein protein-coding 1351486 TSPY1 testis specific protein, Y-linked 1 1580863,2315446,2315445,2315447 19917507,19456250,8244388,18649364,3479749,8923009,1284595,18591933,17881721,17521702,17509197,17234369,16996029,16762081,16618725,16456896,16426576,16132697,16035036,15948118,15273283,15037423,14981720,14702039,14684991,12815422,12773407,12527192,12477932,11173850,11173833,10773691,10747295,10090875,9730615,9678360,9533010,8798990,20656323,7849736,1765369,19324347,19773397,21041627,20347080 2315446,2315445,2315447 7258 NM_003308,AC006156,M94892,X06325,AI002165,BC121113,M94893,M98525,U58096,AY130858,NM_001197242,NG_027958 NP_003299,CAA29640,AAI21114,AAA61238,AAA36570,AAB51693,Q01534,AAN39117,Q540R4,NP_001184171 Hs.556121,Hs.647493,Hs.647494,Hs.571766 CT78|DYS14|TSPY|pJA923 cancer/testis antigen 78|testis-specific Y-encoded protein 1 protein-coding 3563582 TSPY10 testis specific protein, Y-linked 10 100289087 XM_003118833,AC006156,XM_002344198 XP_003118881,XP_002344239 OTTHUMP00000038902|testis specific protein, Y-linked 10 protein-coding 2796362 TSPY15P testis specific protein, Y-linked 15 (pseudogene) 642631 AC006156,NG_016162 pseudo 2802038 TSPY16P testis specific protein, Y-linked 16 (pseudogene) 727969 AC025819,CH471163,NG_023198 EAW59130 hypothetical protein LOC727969 pseudo 3436167 TSPY17P testis specific protein, Y-linked 17 (pseudogene) 100132124 AC010144,XM_003118834 XP_003118882 testis specific protein, Y-linked 17 (pseudogene)|testis specific protein, Y-linked 17, pseudogene protein-coding 3077882 TSPY18P testis specific protein, Y-linked 18 (pseudogene) 9847074 642796 AC006986,NG_016579 pseudo 3362198 TSPY19P testis specific protein, Y-linked 19 (pseudogene) 100132504 AC006335,NG_022996 pseudo 1348859 TSPY2 testis specific protein, Y-linked 2 12477932,10773691 64591 NM_022573,AC006335,AF106331,AK307425,AK308271 NP_072095,AAD47421,A6NKD2,AAI48426 Hs.556121,Hs.646249 MGC103998|TSPYQ1 OTTHUMP00000038553|testis-specific Y-encoded protein 2|testis-specific Y-encoded protein Q1 protein-coding 2923113 TSPY20P testis specific protein, Y-linked 20 (pseudogene) 100130848 AC006987,NG_022960 pseudo 3254931 TSPY21P testis specific protein, Y-linked 21 (pseudogene) 100287055 AC007320,NG_022976 pseudo 3277422 TSPY22P testis specific protein, Y-linked 22 (pseudogene) 100286996 AC007320,NG_022955 pseudo 3277423 TSPY23P testis specific protein, Y-linked 23 (pseudogene) 100286964 AC023342,AC025227 pseudo 2303328 TSPY3 testis specific protein, Y-linked 3 12477932 728137 AC006158,NM_001077697,AC006156,BC075016,BC121114 NP_001071165,AAH75016,AAI21115,Q6B019 Hs.556121,Hs.571766 OTTHUMP00000038908|testis specific protein, Y-linked 3 protein-coding 3497487 TSPY4 testis specific protein, Y-linked 4 12477932,14702039,16344560 728395 AA608988,AC006158,AK093413,BX281192,DB035368,DB476671,NM_001164471 BAC04156,NP_001157943,Q8N9X9 Hs.571766,Hs.646249,Hs.647494,Hs.556121 FLJ36094 OTTHUMP00000038904|testis specific protein, Y-linked 1-like protein-coding 3476546 TSPY8 testis specific protein, Y-linked 8 728403 XM_003119070,XM_001127004,AC006158 XP_003119118,XP_001127004 testis specific protein, Y-linked 8 protein-coding 3539644 TSPY9 testis specific protein, Y-linked 9 728132 AC006156,NG_021936 pseudo 1348944 TSPYL1 TSPY-like 1 1580863,1599672 11256614,16952470,16418600,15489334,15273283,14702039,12477932,12429849,11230166,9730615,16169070,19463995,19596235,16712791 1599672 7259 NM_003309,AL050331,CH471051,AF042181,AI861791,AJ420580,AK026849,AK096882,AL136629,BC048969,BC068554,CB126996,CR533535,CR625543,NG_016217 NP_003300,CAB55883,EAW48232,AAC62384,CAB66564,AAH48969,CAG38566,Q6FI91,Q9H0U9 Hs.458358,Hs.486292 TSPYL TSPY-like protein 1|testis-specific Y-encoded-like protein 1|testis-specific-like protein, Y encoded protein-coding 1346364 TSPYL2 TSPY-like 2 1580863 11395479,18381359,17317670,17069459,16713569,16381901,16079131,15489336,15066269,12477932,11318608,11230166,11149944,11076863,11256614,15823505,16344560,18649364,20186459 64061 NM_022117,BX322635,CH471154,AB015345,AB209182,AF254794,AF273046,AK131220,AK292462,AL713652,AY040871,BC001566,BC024270,AI208075,DA076199,NG_013267 NP_071400,CAI42531,EAW93143,EAW93144,BAA34802,BAD92419,AAG53596,AAG34906,BAG54754,BAF85151,CAD28461,AAK72407,AAH01566,AAH24270,Q59GC7,Q9H2G4,CAL37594 Hs.136164,Hs.592916 CDA1|CINAP|CTCL|DENTT|HRIHFB2216|NP79|SE20-4|SE204|TSPX CASK-interacting nucleosome assembly protein|CTCL tumor antigen se20-4|CTCL-associated antigen se20-4|TSPY-like protein 2|cell division autoantigen 1|cutaneous T-cell lymphoma-associated antigen se20-4|cutaneous T-cell lymphoma-associated tumor antigen se20-4|differentially expressed nucleolar TGF-beta1 target|differentially-expressed nucleolar TGF-beta1 target protein|nuclear protein of 79 kDa|testis-specific Y-encoded-like protein 2|testis-specific protein Y encoded-like 2 protein-coding 1603270 TSPYL3 TSPY-like 3 (pseudogene) 15489334,12477932,11780052 128854 NR_002781,AL121897,BC101556,BC101558,CH471077 Q9H489,EAW76388 Hs.647447 MGC126605|MGC126607|TSPYL3|bA392M18.1 pseudo 1315389 TSPYL4 TSPY-like 4 16189514,15489334,14702039,14574404,12477932,12421765,9872452 23270 NM_021648,AL050331,CH471051,AB018264,AJ420569,AK091559,AK302542,AL134793,AL137639,BC009116,BC040453,CR603581 NP_067680,CAB55881,EAW48235,BAA34441,BAG63814,CAH10705,AAH09116,Q5TFE7,Q69YV8,Q9UJ04 Hs.284141 KIAA0721|dJ486I3.2 OTTHUMP00000017057|TSPY-like protein 4|testis-specific Y-encoded-like protein 4 protein-coding 1322624 TSPYL5 TSPY-like 5 737633 18059362,14702039,12477932,11214970,20079711,17207965 737633 85453 NM_033512,AP003113,AP003115,CH471060,AB051537,AK091445,AK092272,AL080059,BC045630 NP_277047,EAW91759,BAB21841,BAG52362,AAH45630,Q86VY4,ADQ32976 Hs.173094 KIAA1750 TSPY-like protein 5|testis-specific Y-encoded-like protein 5 protein-coding 1603148 TSPYL6 TSPY-like 6 16344560,12477932 388951 NM_001003937,AC073879,CH471053,AK097417,AL117628,BC068576,DB073493,HC007362,HC044761 NP_001003937,EAX00158,BAC05043,AAH68576,Q8N831,CBH19486,CBH30710 Hs.620508 DKFZp434B125 TSPY-like protein 6|testis-specific Y-encoded-like protein 6 protein-coding 1350482 TSPYP1 testis specific protein, Y-linked pseudogene 1 12815422,9847074 347584 NG_003077,AC006335 TSPYP1 pseudo 1347702 TSPYP2 testis specific protein, Y-linked pseudogene 2 12815422,9847074 377997 NG_003078,AC007274 TSPYP2 pseudo 1347788 TSPYP3 testis specific protein, Y-linked pseudogene 3 12815422,9847074 378001 NG_003079,AC006986 TSPYP3 pseudo 1604156 TSPYP4 testis specific protein, Y-linked pseudogene 4 12815422,9847074 378013 NG_004832,AC010141 TSPYP4 pseudo 1349041 TSPYP5 testis specific protein, Y-linked pseudogene 5 12815422,9847074 379027 NG_003093,AC006987 TSPYP5 pseudo 2292189 TSPYP6 testis specific protein, Y-linked pseudogene 6 653174 NG_009702,AC006156 TSPYP6 pseudo 2292187 TSPYP7 testis specific protein, Y-linked pseudogene 7 653288 NG_009742,AC006158 TSPYP7 pseudo 1603994 TSR1 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 17353931,14702039,7791754,12477932,10718198,19584346 55720 NM_018128,AL450226,CH471108,AB037822,AK001396,AK026565,BC019090,BC110851,BC126110,CR619119 NP_060598,EAW90548,EAW90549,EAW90550,EAW90551,EAW90552,BAA92639,BAA91667,AAH19090,AAI10852,AAI26111,Q2NL82 Hs.388170,Hs.461954 FLJ10534|KIAA1401|MGC131829 pre-rRNA-processing protein TSR1 homolog protein-coding 1602842 TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 17207965,16189514,12477932,9417904,19060904,19615732 90121 NM_058163,CH471154,Z85987,BC007699,BC011825,CR594539,CR599852,CR619596,CR622248,U92980 ADQ33183,NP_477511,EAW93177,EAW93178,CAI42223,AAH07699,AAH11825,Q969E8 Hs.522662 DT1P1A10|MGC20451|RP1-112K5.2|WGG1 WGG motif containing 1|pre-rRNA-processing protein TSR2 homolog protein-coding 1314080 TSSC1 tumor suppressing subtransferable candidate 1 This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq] 17353931,16344560,15815621,15489334,12477932,9925925,9403053,9373149,8125298 7260 AC019118,AC073502,CH471053,AF019952,AK026522,AK126288,AK222652,BC002485,CR592052,CR594330,CR594856,CR595759,CR597871,CR600135,CR601008,CR603500,CR607271,NM_003310,CR608131,CR619999,CR621784,CR622340,CR625073,CR626366,DA349228,R15788 NP_003301,AAY24338,AAY24193,EAX01070,EAX01071,AAC51911,BAD96372,AAH02485,Q53HC9,ABM83619,ABM86862 Hs.502770 protein TSSC1|tumor-suppressing STF cDNA 1 protein|tumor-suppressing subchromosomal transferable fragment candidate gene 1 protein protein-coding 1348033 TSSC2 tumor suppressing subtransferable candidate 2 9403053 7261 1316004 TSSC4 tumor suppressing subtransferable candidate 4 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. 17081983,15489334,15302935,12477932,10915772,10072438,16169070,17207965 10078 CR625385,CR626026,CR626346,NM_005706,AC124057,CH471158,AF125568,BC006091,BC050616,CR594750,CR612628,CR624914 Q9Y5U2,NP_005697,EAX02510,EAX02511,EAX02512,EAX02513,AAD23579,AAH06091,AAH50616,ADQ32652 Hs.523424 OTTHUMP00000011533|OTTHUMP00000011534|protein TSSC4|tumor-suppressing STF cDNA 4 protein|tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein protein-coding 1353960 TSSK1A testis-specific serine kinase 1A pseudogene 1580863 15733851,15489334,15044604,11264466,10591208,8776594 23752 NG_004670,AC004471,L77570 SPOGA1|STK22A|TSSK1|TSSK1b|TSSK7P serine/threonine kinase 22a (spermiogenesis associated) pseudo 1605025 TSSK1B testis-specific serine kinase 1B TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM] 15733851,16344560,15761153,15044604,14702039,12556502,12477932 83942 HC007364,HC044763,NM_032028,AB284522,AC010431,CH471086,AF348076,AK122904,AK313332,AY028964,BC022515,DB025324,DB527624 CBH19487,CBH30711,NP_114417,BAF41973,EAW48983,AAK29413,BAG53792,BAG36136,AAK27734,AAH22515,Q9BXA7,ABM84574,ABM86529 Hs.519507,Hs.701555 FKSG81|SPOGA4|STK22D|TSSK1 TSK-1|TSSK-1|serine/threonine kinase 22D (spermiogenesis associated)|serine/threonine kinase FKSG81|serine/threonine-protein kinase 22A|spermiogenesis associated 4|testis-specific kinase 1|testis-specific serine kinase 1|testis-specific serine/threonine-protein kinase 1 protein-coding 1606567 TSSK2 testis-specific serine kinase 2 TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM] 15044604,15489334,15461802,12477932,11591653,10591208,8776594,9412477,18533145,19926886 23617 NM_053006,AB284523,AC004471,CH471176,AF362953,BC037781,CR456587,L77564,HC044659 NP_443732,BAF41974,EAX03058,AAK98531,AAH37781,CAG30473,Q96PF2,CBH30659 Hs.726812 DGS-G|FLJ38613|SPOGA2|STK22B TSK-2|TSSK-2|diGeorge syndrome protein G|serine/threonine kinase 22B (spermiogenesis associated)|serine/threonine-protein kinase 22B|spermiogenesis associated 2|testis specific serine threonine kinase 2|testis-specific kinase 2|testis-specific serine/threonine-protein kinase 2 protein-coding 1347200 TSSK3 testis-specific serine kinase 3 This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq] 1580863 16336268,15761153,15489334,12477932,11597141 81629 NM_052841,AL109945,CH471059,AF296450,BC035354,BF509953,AY048701 NP_443073,CAI22888,EAX07531,EAX07532,AAK97141,AAH35354,Q96PN8,AAL02128,ABM82252,ABM85436 Hs.512763 SPOGA3|STK22C|STK22D|TSK3 TSK-3|TSSK-3|serine/threonine kinase 22c (spermiogenesis associated)|serine/threonine-protein kinase 22C|spermiogenesis associated 3|testis-specific kinase 3|testis-specific serine/threonine kinase 22C|testis-specific serine/threonine-protein kinase 3 protein-coding 1345321 TSSK4 testis-specific serine kinase 4 TSSK4 belongs to a family of serine/threonine kinases highly expressed in testis (Chen et al., 2005 [PubMed 15964553]).[supplied by OMIM] 12477932,15964553,18390560,15761153,15489334,14702039,18452650,20378615 283629 NM_174944,AL136295,CH471078,AF542390,AK131042,AY461663,BC029918,BC111088,NM_001184739 NP_777604,EAW66069,EAW66070,EAW66071,AAN62841,BAC85482,AAS17971,AAI11089,Q6SA08,Q8IZN1,BAI46175,NP_001171668 Hs.314432 C14orf20|MGC133264|STK22E|TSK-4|TSK4|TSSK5 chromosome 14 open reading frame 20|serine/threonine kinase 22E|serine/threonine-protein kinase 22E|testis-specific serine/threonine-protein kinase 4 protein-coding 3340339 TSSK5P1 testis-specific serine kinase 5 pseudogene 1 20210993 648630 AC104592,NG_017084 TSSKps1 pseudo 3476308 TSSK5P2 testis-specific serine kinase 5 pseudogene 2 100131992 AC110280,NG_016786 pseudo 1605019 TSSK6 testis-specific serine kinase 6 TSSK6 is a serine/threonine protein kinase that is required for postmeiotic chromatin remodeling and male fertility (Spiridonov et al., 2005 [PubMed 15870294]).[supplied by OMIM] 15870294,15964553,15489334,15044604,14702039,12477932,20037600 83983 NM_032037,AC011448,CH471106,AF329483,AF348077,AK058166,AK172841,AK313767,BC014611 NP_114426,EAW84824,EAW84825,AAK48827,AAK29414,BAB71697,BAD18805,BAG36505,AAH14611,Q9BXA6,ABM82529,ABM85723 Hs.532711 CT72|FKSG82|FLJ24002|SSTK|TSSK4 TSK-6|TSSK-6|cancer/testis antigen 72|serine/threonine protein kinase SSTK|serine/threonine-protein kinase SSTK|small serine/threonine kinase|testis-specific kinase 6|testis-specific serine/threonine-protein kinase 6 protein-coding 735470 TST thiosulfate sulfurtransferase (rhodanese) The product of this gene is a mitochondrial matrix enzyme that is encoded by the nucleus. It may play roles in cyanide detoxification, the formation of iron-sulfur proteins, and the modification of sulfur-containing enzymes. The gene product contains two highly conservative domains (rhodanese homology domains), suggesting these domains have a common evolutionary origin. [provided by RefSeq] 1580863 20663881,9070219,18029348,17035239,15910006,15489334,15461802,14702039,12962704,12665801,12477932,11788560,11112515,10591208,9373149,8340386,8125298,6588145,6402020,3479705,3471602,2817794,2006499,1451437,986188,20099848,20877624 7263 NM_003312,CH471095,Z73420,AK000862,AK091874,AK223521,AK301300,BC010148,BI820468,CR456598,CR456998,CR594857,D87292,NG_027994 NP_003303,EAW60132,CAA97762,BAG52433,BAD97241,BAG62856,AAH10148,CAG30484,CAG33279,BAA13327,Q16762,Q53EW8,CAK54629,CAK54928,CAQ08660 Hs.474783 MGC19578|RDS rhodanese|thiosulfate sulfurtransferase protein-coding 1346117 TSTA1 tissue specific transplantation antigen 1 94020 1354075 TSTA2 tissue specific transplantation antigen 2 94019 1315979 TSTA3 tissue specific transplantation antigen P35B Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq] 1580863 11698403,8910301,9525924,19027726,15489334,14702039,12477932,7803801,1348494,16712791,17207965 7264 GM744697,NM_003313,AC067930,CH471162,AK096752,AK303125,AK313560,BC001941,BC093061,BF223661,CB132195,CR594900,CR615707,CR617801,CR624941,U58766 CAV31711,NP_003304,EAW82217,EAW82218,EAW82219,EAW82220,EAW82221,EAW82222,BAG53358,BAG64231,BAG36334,AAH01941,AAH93061,AAC50786,Q13630,ADQ32304 Hs.404119 FX|P35B|SDR4E1 3-5 epimerase/4-reductase|GDP-4-keto-6-deoxy-D-mannose epimerase-reductase|GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase|GDP-L-fucose synthase|Tissue-specific transplantation antigen-3|protein FX|red cell NADP(H)-binding protein|short chain dehydrogenase/reductase family 4E, member 1|short-chain dehydrogenase/reductase family 4E member 1|tissue specific transplantation antigen 3 protein-coding 2859136 TSTD1 thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 19913121,20628086,10395639,11087121,11181995,11752456,12107413,12477932,12665801,12817473,15489334,16337094,16710414 100131187 AF439442,AL591806,AV688621,BC001699,BC038219,CD675389,CH471121,NM_001113205,NM_001113206,NM_001113207 AAH01699,AAM69839,AAM69840,CAI15367,CAI15368,CAI15369,CAI15370,EAW52679,NP_001106676,NP_001106677,NP_001106678,Q8NFU3 Hs.720030 KAT KAT protein|OTTHUMP00000029700|putative thiosulfate sulfurtransferase KAT|thiosulfate sulfurtransferase KAT, putative|thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 1 protein-coding 1350960 TTBK1 tau tubulin kinase 1 17353931,19118186,15489334,14702039,14574404,12477932,11347906,7556643,20096481,18029348 84630 NM_032538,AL133375,CH471081,AB058758,AB218664,AK055425,AK131217,AL833256,BC036764 NP_115927,CAI20206,EAX04167,EAX04168,EAX04169,BAB47484,BAE78660,BAD18405,AAH36764,Q5TCY1,Q9H6N8,AAI56453,AAI72528 Hs.485436 BDTK|KIAA1855|RP3-330M21.4 OTTHUMP00000180668|brain-derived tau kinase|tau-tubulin kinase 1 protein-coding 1347811 TTBK2 tau tubulin kinase 2 1580863 20667868,10048485,8889548,17353931,18037885,15489334,15148151,14702039,12477932,12434312,10417284,17620722,19533200,19768375,20379614 146057 NM_173500,AC068727,AC090510,AC090514,CH471125,AB020654,AF525400,AK131372,BC041876,BC071556,CB242184,CR611465,CR615164,NG_012664 NP_775771,EAW92581,EAW92582,EAW92583,BAA74870,AAO14996,BAD18523,AAH41876,AAH71556,Q6IQ55,Q8IWY7 Hs.727864,Hs.659846 KIAA0847|SCA11|TTBK spinocerebellar ataxia 11|tau-tubulin kinase 2 protein-coding 1345432 TTC1 tetratricopeptide repeat domain 1 1580863 20936779,8836031,16189514,15761153,15489334,14503850,12748287,12477932,9373149,8125298,14985359,9383998 7265 AC008706,AC068657,CH471062,AK128840,AK222641,AK222984,AK315262,BC000942,CR598190,NM_003314,CR604893,CR609532,CR625510,U46570 NP_003305,EAW61570,EAW61571,BAD96361,BAD96704,BAG37679,AAH00942,AAB36871,Q53GE7,Q53HD9,Q99614,ABM81919,ABM85097 Hs.519718 FLJ46404|TPR1 TPR repeat protein 1|tetratricopeptide repeat protein 1 protein-coding 1347109 TTC12 tetratricopeptide repeat domain 12 1580863 12477932,9373149,8125298,18828801,17761687,17657212,17085484,16344560,15489334,14702039,12964006,20133381 54970 AP002840,CH471065,EF445041,AK000542,AK023921,AK091887,AK125909,AK223117,AK292331,BC011546,BC019086,BC032355,DB110945,NM_017868,AP000880 EAW67210,EAW67211,EAW67212,EAW67213,EAW67214,ACA06092,ACA06093,BAA91242,BAB14725,BAD96837,BAF85020,AAH32355,Q53G14,Q9H892,NP_060338 Hs.288772 FLJ13859|FLJ20535|TPARM OTTHUMP00000183512|TPR repeat protein 12|tetratricopeptide repeat protein 12|tetratricopeptide repeat protein 12 variant 1|tetratricopeptide repeat protein 12 variant 2 protein-coding 1320938 TTC13 tetratricopeptide repeat domain 13 1580863 16344560,16303743,15489334,14702039,12477932 79573 NM_024525,NM_001122835,AL591292,AL844165,CH471098,CS051183,AK026237,AK074365,AK075386,AK075561,AK309725,AL832286,AL834453,AW613930,BC042683,BC047662,BC110880,DA752300,DA468037,DA741498,EL946523 NP_078801,NP_001116307,CAI15330,CAI15331,EAW69929,EAW69930,EAW69931,EAW69932,EAW69933,CAI72087,BAB15407,BAC11586,BAC11700,CAH10599,CAD39113,AAH42683,Q69YR0,Q8NBP0,Q9H659,CAI17216,CAI17217 Hs.424788 FLJ22584 TPR repeat protein 13|tetratricopeptide repeat protein 13 protein-coding 1320720 TTC14 tetratricopeptide repeat domain 14 737633,1580863 16344560,16189514,15489334,14702039,12975309,12477932,11853319,20379614 737633 151613 NM_001042601,NM_133462,AC068298,CH471052,AB075860,AI742462,AI811067,AK055984,AL832052,AL832310,AL833086,AL833103,AY358762,BC027990,BX474122,BX648669,CR623166,DA283647 NP_597719,EAW78376,EAW78377,EAW78378,BAB85566,BAB71064,CAH10404,CAD89930,AAQ89122,AAH27990,NP_001036066,Q69YS0,Q86TA5,Q8TEM7,Q96N46,ACE87800,ACT64543 Hs.43213 DKFZp313M1015|DRDL5813|FLJ00166|KIAA1980|PRO19630 OTTHUMP00000212531|TPR repeat protein 14|tetratricopeptide repeat protein 14 protein-coding 1343529 TTC15 tetratricopeptide repeat domain 15 737633,1580863 15489334,14702039,12477932,10810093,20562859,20379614 737633 51112 NM_016030,AC073502,AC114810,CH471053,AF151845,AK094181,AK094242,AK098327,AK125105,AK126524,BC014164,BC017475,BQ954367,BU782660,CR607934,CR610194 Q53QD4,Q53S18,Q8N9N0,Q8WVT3,AAY24194,AAY24021,EAX01067,EAX01068,EAX01069,AAD34082,BAC04301,BAG52848,BAG53613,AAH14164,AAH17475,NP_057114 Hs.252713 CGI-87|FLJ36862|FLJ44560 OTTHUMP00000199991|TPR repeat protein 15|tetratricopeptide repeat protein 15 protein-coding 1321657 TTC16 tetratricopeptide repeat domain 16 737633,1580863 15489334,15164053,14702039,12477932 737633 158248 NM_144965,AL162426,CH471090,AK057342,AK074105,AK128011,AK294862,AK302422,AK302737,BC031281,BC032411 NP_659402,CAI41184,EAW87687,EAW87688,EAW87689,BAB71437,BAB84931,BAC87231,BAG57966,BAG63726,BAG63954,AAH31281,Q6ZRS8,Q8NEE8,Q8TEL7 Hs.642748 FLJ32780|RP11-56D16.6 TPR repeat protein 16|tetratricopeptide repeat protein 16 protein-coding 1313426 TTC17 tetratricopeptide repeat domain 17 737633,1580863 15761153,15489334,14702039,12477932,16344560,20379614 737633 55761 AC023085,AC087276,CH471064,AF161431,AK001540,AK001752,AK023161,AK026217,AK074253,AK124380,BC017238,BC033000,NM_018259,BC041893,BX640972,CR615929,AW070863,DA106610 NP_060729,EAW68092,EAW68093,EAW68094,EAW68095,EAW68096,AAF28991,BAA91747,BAA91883,BAB14438,AAH17238,AAH33000,AAH41893,CAE45987,Q49A97,Q6MZP1,Q8NEC0,Q96AE7,Q9H906,Q9NV73,Q9NVK3,Q9P069 Hs.191186 DKFZp686D20222|FLJ10890|FLJ13099|FLJ23673 TPR repeat protein 17|tetratricopeptide repeat protein 17 protein-coding 1316851 TTC18 tetratricopeptide repeat domain 18 737633 14702039,12477932,16385451 737633 118491 AC016394,AL512656,CH471083,AF435958,AF435959,AI458159,AK022235,AK098631,AK308746,AL833537,BC032856,NM_145170 NP_660153,CAI15293,CAI15294,CAI15295,EAW54488,EAW54489,EAW54490,EAW54491,EAW54492,AAM20909,AAM20910,BAC05358,CAH10391,AAH32856,Q5T0N1 Hs.591367,Hs.720588 FLJ12173|FLJ25765|RP11-152N13.6 OTTHUMP00000019804|TPR repeat protein 18|tetratricopeptide repeat protein 18|tetratricopeptide repeat-containing protein protein-coding 1353382 TTC19 tetratricopeptide repeat domain 19 This gene encodes a protein of unknown function. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq] 15231747,16730941,16713569,15489334,14702039,12477932,20877624 54902 NM_017775,AC002553,AC006251,CH471222,AK000350,AK025958,AK055780,AK056878,AK094819,AK297783,AL832412,BC003058,BC011698,BC073796,BC105128,BC112107,CR599783,CR604412,CR612615,CR615463 NP_060245,EAX04490,EAX04491,BAA91103,BAB15296,BAG51574,BAG51820,BAG52935,BAG60127,AAH11698,AAH73796,AAI05129,AAI12108,Q6DKK2,Q9H6G3 Hs.462316 2010204O13Rik|FLJ20343|MGC138312|MGC19520 OTTHUMP00000065572|TPR repeat protein 19|tetratricopeptide repeat protein 19 protein-coding 1348204 TTC21A tetratricopeptide repeat domain 21A 1580863 16344560,14702039,12477932 199223 NM_001105513,NM_145755,AC092053,AC138124,CH471055,AA843452,AJ487015,AK022483,AK093313,AK098528,BC039691,BC062621,BC129948,BX647142,DB094952,DC403032,AK299774,AK302408,AK302465 NP_001098983,NP_665698,EAW64561,EAW64562,EAW64563,EAW64564,CAD31647,BAC04129,BAC05323,AAI29949,Q8NDW8,BAG61657,BAG63718,BAG63755 Hs.443935 DKFZp686P18239|MGC156293|MGC70523|STI2 OTTHUMP00000209000|TPR domain containing STI2|TPR repeat protein 21A|stress-inducible protein 2|tetratricopeptide repeat protein 21A protein-coding 1344161 TTC21B tetratricopeptide repeat domain 21B 737633,1580863 16344560,14702039,12477932,12056414,21068128 737633 79809 NM_024753,AC009495,AC010127,AC011241,AC011303,AC019140,AC108031,CH471058,AB073395,AB082523,AK021519,AK057268,AK057906,AK096451,AK292942,BC035767,BC055424,BC063579,BX647903,CR608010,DA798655 NP_079029,AAY14750,EAX11321,EAX11322,BAE45724,BAC02701,BAB13836,BAB71404,BAG53294,BAF85631,AAH35767,AAH55424,AAH63579,Q7Z4L5 Hs.310672 FLJ11457|Nbla10696|THM1 TPR repeat protein 21B|putative protein product of Nbla10696|tetratricopeptide repeat protein 21B protein-coding 1605998 TTC22 tetratricopeptide repeat domain 22 8889548,16710414,14702039 55001 NM_001114108,NM_017904,AC096536,AL139244,CH471059,AI923972,AK000626,AL049431,AW170453,AW195337,BM929669 NP_001107580,NP_060374,CAI18990,EAX06667,EAX06668,BAA91293,Q5TAA0 Hs.16230 FLJ20619 TPR repeat protein 22|tetratricopeptide repeat protein 22 protein-coding 1601741 TTC23 tetratricopeptide repeat domain 23 16344560,16341674,15342556,14702039,12477932,9373149,8125298,20200953 64927 NM_001040660,NM_001040655,NM_001040659,NM_001040657,NM_001040658,NM_022905,AC022819,AC036108,CH471101,AF411456,AK022634,AK023001,AK023230,AK222580,NM_001040656,AK291690,BC015728,BC034816,BM755170,BP288479,DA644193,DA681018,DA743180,DA992241,DB088037,DB178976,DB238664 NP_001035746,NP_001035750,NP_001035745,NP_001035749,NP_001035747,NP_001035748,NP_075056,EAX02234,EAX02235,EAX02236,EAX02237,EAX02238,EAX02239,AAQ03215,BAB14144,BAG51147,BAB14480,BAD96300,BAF84379,AAH15728,Q5W5X9 Hs.513195,Hs.621260 FLJ12572|FLJ12939|HCC-8 OTTHUMP00000190851|OTTHUMP00000190852|TPR repeat protein 23|cervical cancer proto-oncogene 8 protein|proto-oncogene 8|tetratricopeptide repeat protein 23 protein-coding 1603175 TTC23L tetratricopeptide repeat domain 23-like 17207965,14702039,12477932,20379614 153657 NM_144725,AC026801,CH471119,AK058168,AK097766,AK293829,AY498865,BC032871,BC057775,BX088767 ADQ32973,NP_653326,EAW55900,EAW55901,BAB71699,BAG57232,AAR92152,AAH57775,Q6PF05 Hs.435742 FLJ25439 OTTHUMP00000221044|OTTHUMP00000221046|tetratricopeptide repeat protein 23-like protein-coding 1602975 TTC24 tetratricopeptide repeat domain 24 11181995 164118 NM_001105669,AL365181,CH471121,AW628680,BQ216668,BX414790 NP_001099139,CAI13047,CAM15718,EAW52944,A2A3L6 Hs.447851 FLJ20249 OTTHUMP00000031983|TPR repeat protein 24|tetratricopeptide repeat protein 24 protein-coding 1606214 TTC25 tetratricopeptide repeat domain 25 17353931,11256614,16381901,15489336,14702039,12477932,11230166,11076863 83538 NM_031421,AC091172,AC125257,CH471152,AK055498,AL136760,BC025390,BC067297,CF593846,CR592419 NP_113609,EAW60782,EAW60783,EAW60784,BAB70936,CAB66694,AAH25390,AAH67297,Q96NG3,CAL38571 Hs.201134 DKFZp434H0115 TPR repeat protein 25|tetratricopeptide repeat protein 25 protein-coding 1605330 TTC26 tetratricopeptide repeat domain 26 15342556,14702039,12477932,19913121,20628086 79989 NM_001144920,NM_001144923,AC009220,AC018644,CH236950,CH471070,AI375270,AK022633,AK293444,AK295092,AK299132,NM_024926,AK300807,AL137393,BC013912,BC034466,BC126331,BC130339,BC144151,BP315162 NP_079202,NP_001138392,NP_001138395,EAL24039,EAW83906,EAW83907,EAW83908,BAB14143,BAH11506,BAH11969,BAH12956,BAH13352,CAB70721,AAH13912,AAI26332,AAI30340,A0AVF1,Q96CU4 Hs.644553 DYF13|FLJ12571|MGC163211|dyf-13 OTTHUMP00000212204|OTTHUMP00000212206|TPR repeat protein 26|tetratricopeptide repeat domain 26|tetratricopeptide repeat protein 26 protein-coding 1604350 TTC27 tetratricopeptide repeat domain 27 17353931,15761153,14702039,12477932,9373149,8125298,20379614 55622 BI546117,NM_001193509,NM_017735,AL121656,AL133246,CH471053,AK000279,AK000665,AK027570,AK225295,BC001248,BC063791,CR593170,AK299196 NP_001180438,NP_060205,EAX00441,EAX00442,BAA91048,BAA91315,BAB55206,AAH01248,AAH63791,Q6P3X3,BAG61239 Hs.468125 FLJ20272 TPR repeat protein 27|tetratricopeptide repeat protein 27 protein-coding 1601773 TTC28 tetratricopeptide repeat domain 28 15489334,14702039,12477932,12168954,10591208,10470851,19615732,20379614 23331 NM_001145418,AL008722,AL008724,AL023281,AL033538,AL035397,AL035453,AL050313,AL080241,AL118497,AL121825,AB028966,AK055553,AK092338,AL080174,AL137328,BC016465 CAB62963,CAB62964,CAI17985,CAI21502,CAQ08608,CAI18818,CAI18760,CAI17993,CAH73824,BAA82995,CAB45760,CAB70697,AAH16465,Q96AY4,NP_001138890 Hs.387856 KIAA1043 TPR repeat protein 28|tetratricopeptide repeat protein 28 protein-coding 4107238 TTC28AS TTC28 antisense RNA (non-protein coding) 11258795,12477932,15461802,16344560,8889548 284900 AB051435,AL031591,AL033538,AL832597,BC016779,BC028176,BC060374,BQ018666,BU740789,CH471095,CT841515,DA934139,DB254752,NR_026962,NR_026963 BAB33318,CAJ86445,EAW59747,Q20WK6 Hs.602319 KIAA1648|TTC28-AS|TTC28AS|dJ353E16.2 miscrna 1605320 TTC29 tetratricopeptide repeat domain 29 16344560,14702039,12477932,11329013,9373149,8125298,20379614 83894 NM_031956,AC092435,AC093887,AC097497,AC106050,CH471056,AF345910,AK093145,AK225725,AK301807,AK314066,BC024193,BG216688,DB034049,EF432564 NP_114162,EAX05022,EAX05023,EAX05024,AAK29064,BAC04072,BAG63257,AAH24193,ABO31099,Q8NA56,Q8TC83 Hs.378893 NYD-SP14|TBPP2A OTTHUMP00000221147|OTTHUMP00000221148|TPR repeat protein 29|testis development protein NYD-SP14|tetratricopeptide repeat protein 29 protein-coding 1318550 TTC3 tetratricopeptide repeat domain 3 1580863 17488780,14702039,12477932,10830953,10781955,9503011,9254009,8947847,8724848,15231748,20059950,20379614,20463881 7267 NM_001001894,NM_003316,AP001429,AP001432,CH471079,AJ001866,AK125473,AK291992,AY523634,BC026260,BC047867,BC063033,BC092466,BC137345,BI915053,BQ893819,CA420000,CR592376,CR593065,CR936616,D83077,D83327,D84294,D84295,D84296,AK297921,AK299991 NP_001001894,NP_003307,EAX09716,EAX09717,EAX09718,EAX09719,EAX09720,EAX09721,EAX09722,EAX09723,CAA05057,BAF84681,AAT28185,AAH63033,AAH92466,AAI37346,CAI56759,BAA11769,BAA23666,BAA12301,BAA12302,BAA12303,P53804,Q5CZA6,Q5GIT6,BAG60239,BAG61811 Hs.368214 DCRR1|DKFZp686M0150|RNF105|TPRDIII E3 ubiquitin-protein ligase TTC3|OTTHUMP00000109081|OTTHUMP00000109084|OTTHUMP00000109089|RING finger protein 105|TPR repeat protein 3|TPR repeat protein D|tetratricopeptide repeat protein 3 protein-coding 1603937 TTC30A tetratricopeptide repeat domain 30A 14702039,12477932,8889548 92104 AC073834,CH471058,AK024008,AK057530,AK125104,AK292395,AL049329,BC017695,BC042848,BC048006,BM684657,BQ015522,NM_152275 NP_689488,EAX11053,EAX11054,BAB14771,BAF85084,CAB43676,AAH42848,AAH48006,Q86WT1,Q9Y3U5 Hs.128384 FLJ13946|FLJ77601 TPR repeat protein 30A|tetratricopeptide repeat protein 30A protein-coding 1603563 TTC30B tetratricopeptide repeat domain 30B 16344560,14702039,12477932 150737 NM_152517,AC073834,AI498353,AK055552,AK296828,AW007843,BC033795,BX647620,DA260391,DA557876 NP_689730,BAB70953,BAG59398,AAH33795,CAH56200,Q8N4P2 Hs.447659 FLJ30990 TPR repeat protein 30B|tetratricopeptide repeat protein 30B protein-coding 1605049 TTC31 tetratricopeptide repeat domain 31 15489334,14702039,12477932,9373149 64427 NM_022492,NR_027749,AC005041,CH471053,AK022850,AK026819,AK090520,AK223355,AK225626,AK301585,AK303105,AK303245,BC036017,BC045536,BC047084,BC060805,BC096709,BC098114,BC098365,BC099729,BX648131,CR598803 NP_071937,EAW99638,EAW99639,EAW99640,EAW99641,EAW99642,EAW99643,EAW99644,EAW99645,EAW99646,EAW99647,EAW99648,BAB14272,BAG52176,BAD97075,BAG63076,BAG64329,AAH36017,AAH45536,AAH96709,AAH98365,Q49AM3,Q4KMS4,Q86XF2,BAG64213 Hs.557709 FLJ12788|FLJ33201|MGC120200 OTTHUMP00000202639|TPR repeat protein 31|tetratricopeptide repeat protein 31 protein-coding 1605580 TTC32 tetratricopeptide repeat domain 32 15489334,12477932,17207965 130502 NM_001008237,AC013400,AX118999,CH471053,BC057850,BC070381 NP_001008238,CAC38573,EAX00842,EAX00843,AAH57850,Q5I0X7,ADQ31962 Hs.591547 TPR repeat protein 32|tetratricopeptide repeat protein 32 protein-coding 1606815 TTC33 tetratricopeptide repeat domain 33 16344560,12477932,8889548 23548 NM_012382,AC008810,AC093264,CH471119,AF023244,AF130073,AI174764,AK303119,AK307131,AK312560,BC015701,BC036536,BE869916,BF509085,BM543635,BM689740,BQ922097,CR598481,CR738110,DA518274,DA652008 NP_036514,EAW55998,EAW55999,AAD09341,AAG35500,BAG64225,BAG35457,AAH15701,AAH36536,Q6PID6,Q9H3A1,ABM83290,ABM86499 Hs.348915,Hs.621357 OSRF TPR repeat protein 33|osmosis responsive factor|osmosis-responsive factor|tetratricopeptide repeat protein 33 protein-coding 2293894 TTC34 tetratricopeptide repeat domain 34 16710414 100287898 AL831784,DY655627,XM_002342015,XM_003119811,XM_003120448,AL592464 XP_002342056,XP_003119859,XP_003120496,A8MYJ7 Hs.632363 OTTHUMP00000202542|TPR repeat protein 34|TPR repeat-containing protein ENSP00000383873|tetratricopeptide repeat domain 34|tetratricopeptide repeat protein 34 protein-coding 1321326 TTC35 tetratricopeptide repeat domain 35 737633,1580863 10942595,16189514,15489334,14702039,12477932,11593002,9373149,8125298,7788527,17207965,20877624 737633 9694 NM_014673,AC022634,AP002088,CH471060,AK057571,AK222615,AK290974,BC007027,BC020753,BC021667,CR457402,CR597758,D14659 NP_055488,EAW91920,BAD96335,BAF83663,AAH20753,AAH21667,CAG33683,BAA03493,Q15006,Q53HG5,ADQ31637 Hs.654351 KIAA0103 TPR repeat protein 35|tetratricopeptide repeat protein 35 protein-coding 2293598 TTC36 tetratricopeptide repeat domain 36 18587674,12477932 143941 NM_001080441,AP000941,AX400021,CH471065,BC146916,BC146921,BC171913,EU489483 AAI71913,NP_001073910,CAD33465,EAW67387,AAI46917,AAI46922,ACA62794,A6NLP5 Hs.653449 HBP21 HSP70 binding protein 21|HSP70-binding protein 21|TPR repeat protein 36|tetratricopeptide repeat protein 36 protein-coding 1314461 TTC37 tetratricopeptide repeat domain 37 737633 20176027,15489334,15231748,12477932,9205841 737633 9652 NG_023414,NM_014639,AC090071,CH471084,AB002370,AK307531,BC009767,BC015163,BC030966,BC056893 NP_055454,EAW96037,EAW96038,BAA20827,AAH15163,AAH56893,Q6PGP7 Hs.482868 KIAA0372|MGC32587 TPR repeat protein 37|tetratricopeptide repeat protein 37|thespin protein-coding 1602885 TTC38 tetratricopeptide repeat domain 38 16344560,17207965,12477932 55020 NM_017931,CH471138,Z93024,AI243497,AK000706,AK300606,BC018918,CR592031,CR595565,DA762669 NP_060401,EAW73412,EAW73413,EAW73414,EAW73415,CAI18791,CAP58852,BAA91331,BAG62302,AAH18918,Q5R3I4,ADQ32377 Hs.435832 FLJ20699|LL22NC03-5H6.5 TPR repeat protein 38|tetratricopeptide repeat protein 38 protein-coding 1322418 TTC39A tetratricopeptide repeat domain 39A 12477932,9461476,9455484 22996 NM_001080494,AL162430,AL671986,CH471059,AB007921,AF007170,AK000220,AK298019,NM_001144832,AK311430,BC004399,BC028374,CX788693,DB460455,DC381029,AK301587 NP_001138304,NP_001073963,CAI13131,CAI13132,CAI13133,CAI13134,CAI13135,CAI13136,CAI13137,CAI13138,CAI13142,CAI13021,CAI13022,CAI13023,CAI13024,CAI13025,CAI13026,CAI13027,CAI13028,EAX06826,BAA32297,AAC39582,BAH12705,BAH13518,AAH04399,AAH28374,Q5SRH9,AAI60047 Hs.112949 C1orf34|DEME-6|KIAA0452 OTTHUMP00000009899|OTTHUMP00000009901|OTTHUMP00000009903|TPR repeat protein 39A|differentially expressed in MCF7 with estradiol protein 6|tetratricopeptide repeat protein 39A protein-coding 1314048 TTC39B tetratricopeptide repeat domain 39B 19060906,14702039,12477932,20972250,20571754,20686565,20705733,17213182,20379614,20864672 158219 NM_152574,AL591393,CH471071,AK091187,AK093459,AK298581,AK298998,AK301185,AK301427,AK310271,AK310482,BC038592,BC042417,BC070139,BC142985,AI473911,BX105862,DT217817,NM_001168339,NM_001168340,NM_001168341,NM_001168342 CAH71481,NP_689787,CAH71479,EAW58683,EAW58684,EAW58685,BAC03603,BAG60772,BAG61086,BAG62768,BAG62955,AAH38592,AAH42417,AAI42986,Q5VTQ0,Q8IXZ6,NP_001161811,NP_001161812,NP_001161813,NP_001161814 Hs.563630 C9orf52|FLJ33868 OTTHUMP00000021065|OTTHUMP00000223199|OTTHUMP00000223200|OTTHUMP00000223201|TPR repeat protein 39B|tetratricopeptide repeat protein 39B protein-coding 1345290 TTC39C tetratricopeptide repeat domain 39C 737633 16177791,15489334,14702039,12477932 737633 125488 NM_153211,NM_001135993,NR_024232,AC010754,AC090772,CH471088,AK074875,AK091080,AK296442,BC016833,BC032684,BC121034,BC121035,BM069557 NP_694943,NP_001129465,EAX01169,EAX01170,EAX01171,BAC03578,BAH12356,AAH32684,AAI21035,AAI21036,Q8N584 Hs.128576 C18orf17|FLJ33761|FLJ90394|HsT2697 TPR repeat protein 39C|tetratricopeptide repeat protein 39C protein-coding 4139976 TTC39DP tetratricopeptide repeat domain 39D, pseudogene 646640 AC018693,AC074366,AC092833,NG_021561 pseudo 2291791 TTC3L tetratricopeptide repeat domain 3-like 286495 AL391495,AK304575,AY672106,NR_030737 A8MVZ4,BAH14219 Hs.567832 RNF105L|TTC3L pseudo 1318353 TTC4 tetratricopeptide repeat domain 4 The 34-amino acid tetratricopeptide repeat (TPR) motif is found in a variety of proteins and may mediate protein-protein or protein-membrane interactions.[supplied by OMIM] 1580863 16344560,18320024,15489334,14702039,12477932,10828607,9933562,9373149,8125298,17353931,14623081 7268 DB362353,NM_004623,AL139244,CH471059,AF063602,AF073887,AK025524,AK090964,AK123924,AK222562,AK292426,BC001276,BT006817,CR599311,CR606917,CR607810,CR612462,CR616622,CR620756 NP_004614,CAI18994,CAI18995,EAX06670,EAX06671,EAX06672,EAX06673,EAX06674,AAG43161,AAD19853,BAC85726,BAD96282,BAF85115,AAH01276,AAP35463,O95801,Q6ZVY2 Hs.412482 DKFZp781B0622|FLJ41930|MGC5097 TPR repeat protein 4|tetratricopeptide repeat protein 4 protein-coding 1349134 TTC4P tetratricopeptide repeat domain 4, pseudogene 10828607,17903293 222052,23618 AC073115,CH236958,NG_021385 TTC4P pseudo 1322658 TTC5 tetratricopeptide repeat domain 5 1580863 16344560,15489334,14702039,12477932,11511361,17207965 91875 NM_138376,AL356019,CH471078,CQ783482,AK074553,BC008647,BC030822,BC053538,BM998414,BX248066,BX640732,BX648584,CR597562,CR600482,CR608059,CR610331,DB051711 NP_612385,EAW66480,EAW66481,EAW66482,CAF86668,BAC11056,AAH08647,AAH30822,AAH53538,CAD62359,CAE45848,Q6N024,Q86T04,Q8N0Z6,ACE87639,ADQ32206 Hs.98553 Strap OTTHUMP00000163990|OTTHUMP00000163991|TPR repeat protein 5|tetratricopeptide repeat protein 5 protein-coding 1323287 TTC6 tetratricopeptide repeat domain 6 11181995,19692168,15489334,12477932,20379614 319089 AL136296,AL163151,CH471078,BC014342,BC103914,BC103915,AL121790,BC038110,XM_002343299,BC103916,BX161415,XM_003119564,XM_003120777 EAW65837,EAW65838,EAW65839,EAW65840,EAW65841,EAW65842,EAW65843,AAH14342,AAI03915,AAI03916,AAH38110,Q8IY25,XP_002343340,AAI03917,CAD61890,Q3SY86,Q3SY87,Q3SY88,Q86TZ1,XP_003119612,XP_003120825 Hs.659936 C14orf25|MGC119358|MGC119360|MGC119361 TPR repeat protein 6|tetratricopeptide repeat protein 6 protein-coding 1314700 TTC7A tetratricopeptide repeat domain 7A The tetratricopeptide repeat (TPR) domain is defined by a degenerate consensus sequence of 34 amino acids. TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins (White et al., 2005 [PubMed 15718100]).[supplied by OMIM] 1580863 20339536,19898481,17081983,15718100,15489334,14702039,12477932,12168954,10574461,20932654 57217 NM_020458,AC073283,AC093732,CH471053,AA504156,AB032966,AK056464,AL117512,AL834383,BC001978,BC027457,BC035708,BC065554,BC082965,BC111487,BC114365 NP_065191,EAX00226,EAX00227,EAX00228,EAX00229,BAA86454,BAG51719,CAD39046,AAH01978,AAH27457,AAH65554,AAI11488,AAI14366,Q2T9J9,Q6P0M3,Q9ULT0 Hs.370603 MGC131720|MGC134830|TTC7 OTTHUMP00000203192|OTTHUMP00000203193|TPR repeat protein 7A|tetratricopeptide repeat protein 7A protein-coding 1314238 TTC7B tetratricopeptide repeat domain 7B 15489334,12508121,12477932 145567 NM_001010854,AL096869,AL122020,AL139193,CH471061,AK126571,AL832848,BC035865,BC048270,BG489583,BQ426031,BX247966,BX248275,CB988671,CR602568,CR624723 NP_001010854,EAW81433,EAW81434,EAW81435,EAW81436,EAW81437,EAW81438,BAG54346,CAI46128,AAH35865,AAH48270,CAD62305,CAD62603,Q86TV6,AAI48530,AAI53123 Hs.655697 TTC7L1|c14_5685 TPR repeat protein 7-like-1|TPR repeat protein 7B|tetratricopeptide repeat domain 7 like 1|tetratricopeptide repeat protein 7-like-1|tetratricopeptide repeat protein 7B protein-coding 1317152 TTC8 tetratricopeptide repeat domain 8 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 1624198,1580863 17574030,19402160,19077438,15489334,14702039,14520415,12477932,20451172,20801516 1624198 123016 NM_144596,NM_198309,NM_198310,NG_008126,AL121768,AL133238,CH471061,AF086168,AK093891,AK124675,AK296077,AK315772,AL833901,AY366523,AY366524,AY373972,BC001563,BC026351,BC095433,BG330023,BX161472,BX247959,BX248071,BX248248,CR593689 NP_653197,NP_938051,NP_938052,EAW81395,EAW81396,EAW81397,EAW81398,EAW81399,EAW81400,EAW81401,EAW81402,BAG52780,BAG54067,BAG58833,CAD38757,AAR02192,AAR02193,AAR19043,AAH01563,AAH26351,AAH95433,CAD61928,CAD62299,CAD62360,CAD62576,Q86U25,Q8TAM2 Hs.303055 BBS8|RP51 Bardet-Biedl syndrome type 8|TPR repeat protein 8|bardet-Biedl syndrome 8 protein|tetratricopeptide repeat protein 8 protein-coding 1318967 TTC9 tetratricopeptide repeat domain 9 This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq] 1580863 18699990,16678794,15489334,12477932,9039502 23508 NM_015351,AC004816,AL357153,CH471061,BC047950,BX407741,CR603109,CR616110,CR625887,D86980,NG_012648 NP_056166,EAW81043,EAW81044,AAH47950,BAA13216,Q92623,AAI60145 Hs.79170 KIAA0227|TTC9A TPR repeat protein 9A|tetratricopeptide repeat protein 9A protein-coding 1603894 TTC9B tetratricopeptide repeat domain 9B 14702039,12477932 148014 NM_152479,AC118344,CH471126,AK054935,AK289550,BC029539,CA432622,CR596147,CR610812,CR617938,CR626768 NP_689692,EAW56938,BAB70830,BAF82239,AAH29539,Q8N6N2 Hs.631572 FLJ30373|MGC33962 TPR repeat protein 9B|tetratricopeptide repeat protein 9B protein-coding 1601809 TTC9C tetratricopeptide repeat domain 9C 19165527,12477932 283237 NM_173810,AP001160,CH471076,AF289605,AF451992,AF451993,BC032123,BC053665 NP_776171,EAW74086,EAW74087,AAL55789,AAP97691,AAP97692,AAH32123,AAH53665,Q8N5M4,Q8WYY7,ADR82671 Hs.31704 MGC29649 TPR repeat protein 9C|tetratricopeptide repeat protein 9C protein-coding 1350554 TTD trichothiodystrophy 8213812 7269 1352742 TTF1 transcription termination factor, RNA polymerase I 1580863 19040416,9373149,8889548,8125298,7597036,9582279,19293183,19279207,18932182,18587322,18355939,18246044,16565220,15489334,15231748,12477932,11532953,11250901,15173172,15292447,19430419,19464057,20182342,20448178,20513429,16341674,21164283,20302910 7270 NM_007344,AL353701,CH471090,AK225119,AK302902,BC050734,BC062692,BC104639,BC127669,BC127670,BC143048,BC143049,BC143821,BM827593,BU195816,BU674009 NP_031370,CAI94997,EAW88001,EAW88002,BAG64074,AAH50734,AAH62692,AAI04640,AAI27670,AAI27671,AAI43049,AAI43050,Q15361,AAI67784 Hs.54780 RNA polymerase I termination factor|TTF-1|TTF-I|transcription termination factor 1|transcription termination factor I protein-coding 1319323 TTF2 transcription termination factor, RNA polymerase II This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq] 9748214,16710414,15489334,15467445,15320969,15231748,15125840,12927788,12477932,12165566,10455150,1916263,17577209,18029348 8458 AL391476,NM_003594,AL139248,AL445231,CH471122,AB209845,AF073771,AF080255,AI991355,AK291017,AW027795,BC015341,BC030058,BI857056,BQ422564,BU182600 NP_003585,CAI12738,CAH71961,EAW56666,EAW56667,BAD93082,AAC64044,AAD49435,BAF83706,AAH30058,Q59EG6,Q9UNY4,CAI12731 Hs.486818 HuF2 F2|RNA polymerase II termination factor|human factor 2|lodestar homolog|lodestar protein|transcription release factor 2|transcription termination factor 2 protein-coding 1353603 TTIM1 T-cell tumor invasion and metastasis 1 1298665 1298665 7271 1313655 TTK TTK protein kinase 1580863 19120698,10366450,1639825,19018011,19332559,19151762,19015317,18923149,18794806,18541701,18480048,18083840,18071315,17804818,17728254,17573779,17452325,17388661,17268814,17210994,16864798,16080195,15618221,15304323,14702039,14657364,12686615,12477932,11927556,7678926,1956325,11799066,20624898,20624899,20624901,20624902,18243099,7737118,16344560,17439397,17981789,18452554,19274768,19459850,19530738,20057968,20508983,20884615,20729194 7272 NM_003318,AL133475,CH471051,AK095599,AK292460,AK315696,BC000633,BC032858,CR624652,X70500,AU154042,DA853919,NM_001166691,GM619913 NP_003309,CAB87580,CAI20323,EAW48699,EAW48700,BAF85149,BAG38059,AAH00633,AAH32858,CAA49912,P33981,Q5TCS1,ABM82886,ABM86076,NP_001160163,CAV33297 Hs.169840 CT96|ESK|FLJ38280|MPS1|MPS1L1|PYT OTTHUMP00000016778|OTTHUMP00000220743|cancer/testis antigen 96|dual specificity protein kinase TTK|monopolar spindle 1-like 1|phosphotyrosine picked threonine kinase|phosphotyrosine picked threonine-protein kinase protein-coding 732112 TTL tubulin tyrosine ligase TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM] 15489334,15146197,14571137,12477932,11431336,8889549,8093886,20468071 150465 NM_153712,AC012442,CH471217,AA099055,AB071393,AK026673,AK126378,AK126549,BC036331,BC036707,BC036819,BC046913,BX538316,BX647135,BX649144,CN361230,CR599730,CR626151 NP_714923,AAX81998,EAW73589,BAC06832,AAH36819,CAD98091,Q8NG68,ABM85001 Hs.358997 MGC46235 2410003M22Rik|tubulin--tyrosine ligase|tubulin-tyrosine ligase protein-coding 1319289 TTLL1 tubulin tyrosine ligase-like family, member 1 1580863 16344560,15890843,15489334,15461802,14702039,12529303,12477932,11230166,11054573,10591208,8724849,19767753,20379614,20564319 25809 BC039353,BF433080,BG911167,CR456599,CR590596,CR591272,CR598688,CR605269,CR618247,CR625979,DA247656,NR_027779,AL022237,AL022476,NM_012263,CH471138,AF104927,AF173935,AI369631,AK095996,AK315658,AL096883,AL096886,AL136687,AL589867,BC009058,BC014968 CAG30485,O95922,CAK54630,CAK54929,ABM83124,ABM86319,AAH14968,NP_036395,CAB39176,EAW73279,EAW73280,EAW73281,AAG29879,AAF91088,BAG53193,BAG38024,CAB51423,CAB51469,CAB66622,CAC34478 Hs.660298,Hs.706553 C22orf7|HS323M22B OTTHUMP00000203022|PGs3|catalytic subunit of neural tubulin polyglutamylase|probable tubulin polyglutamylase TTLL1|tubulin polyglutamylase complex subunit 3|tubulin--tyrosine ligase-like protein 1|tubulin-tyrosine ligase protein-coding 1602419 TTLL10 tubulin tyrosine ligase-like family, member 10 15890843,14702039,12477932,19524510 254173 NM_153254,AL162741,AL390719,CH471183,AK093438,AK124125,BC027945,BC126152,BC126154,BX117374,NM_001130045 NP_001123517,NP_694986,CAI23266,CAI14321,CAI14322,EAW56285,EAW56286,BAC04164,BAC85781,AAI26153,AAI26155,Q6ZVT0 Hs.454835 FLJ36119|FLJ42131|RP5-902P8.1|TTLL5 OTTHUMP00000000974|inactive polyglycylase TTLL10|tubulin tyrosine ligase-like family, member 5|tubulin--tyrosine ligase-like protein 10 protein-coding 1322671 TTLL11 tubulin tyrosine ligase-like family, member 11 20379614,15890843,15164053,14702039,12477932,10737800,20583170 158135 NM_001139442,NM_194252,AL162423,AL442634,AL445587,AL596244,CH471090,AF521886,AF521887,AK055126,AK125178,BC089452,BC171751,CV357789 NP_001132914,NP_919228,CAH73979,CAI39983,CAI39985,CAI40706,EAW87506,EAW87507,EAW87508,EAW87509,AAM81328,AAM81329,BAC86073,Q6ZUZ3,Q8NHH0,Q8NHH1,EAW87505,CAI40705 Hs.640663 C9orf20|RP11-429D3.1|bA244O19.1 OTTHUMP00000022031|chromosome 9 open reading frame 20|tubulin polyglutamylase TTLL11|tubulin--tyrosine ligase-like protein 11 protein-coding 1604381 TTLL12 tubulin tyrosine ligase-like family, member 12 20162578,15890843,15489334,15461802,12477932,10591208,8590280 23170 D63487,BE785973,BX411143,NM_015140,CH471138,Z82214,AK123789,AK304464,AL590888,BC001070,CR593557,CR597138,CR599372,CR601017,CR610976,CR611885,CT841516 CAJ86446,BAA09774,Q14166,Q9BR23,CAQ09718,NP_055955,EAW73291,EAW73292,CAB55886,BAG65280,CAC37415,AAH01070 Hs.517670 FLJ41795|KIAA0153|dJ526I14.2 tubulin--tyrosine ligase-like protein 12 protein-coding 1604421 TTLL13 tubulin tyrosine ligase-like family, member 13 15890843,12477932 440307 NM_001029964,AC091167,CH471101,AK127965,BC036668,BC144453 NP_001025135,EAX02094,EAX02095,BAG54607,A6NNM8,AAI60183 Hs.632164 FLJ46079|MGC33417 tubulin polyglutamylase TTLL13|tubulin--tyrosine ligase-like protein 13 protein-coding 1354449 TTLL1P tubulin tyrosine ligase-like 1 pseudogene 387498 1313087 TTLL2 tubulin tyrosine ligase-like family, member 2 1580863 14702039,12477932,11054573,9373149,8125298 83887 NM_031949,CH471051,AK093039,AK098527,AK225984,AK301755,AK314450,AY026506,BC030650,BC047411,AL021331,HC007366,HC044589 NP_114155,EAW47498,BAG52639,BAG63216,BAG37058,AAK20169,AAH30650,AAH47411,Q9BWV7,CAD92564,CBH19488,CBH30624 Hs.520554 C6orf104|NYD-TSPG|dJ366N23.3 OTTHUMP00000220506|probable tubulin polyglutamylase TTLL2|testis-specific protein NYD-TSPG|tubulin--tyrosine ligase-like protein 2 protein-coding 1322614 TTLL3 tubulin tyrosine ligase-like family, member 3 1580863 16344560,15342556,14702039,12477932,11054573,8889548,19524510 26140 AC018809,AC022382,AA742169,AF078842,AK023960,AK097236,AK125875,AK297289,AK315140,AL096725,AL833939,BC009479,BC028169,BC098298,BC098361,NM_001025930,BC099735,BC105638,BM674442,BM717061,BP357921,BX440835,CB854808,DA267460,NR_037162 NP_001021100,AAF23353,BAB14741,BAG59759,BAG37589,CAB46375,CAD38794,AAH98298,AAH99735,AAI05639,Q6ZS22,Q9Y4R7,AAH98361 Hs.709359 DKFZp434B103|DKFZp686D076|FLJ13898|HOTTL|MGC120529|MGC120530|MGC120532 OTTHUMP00000165250|tubulin monoglycylase TTLL3|tubulin--tyrosine ligase-like protein 3 protein-coding 1315312 TTLL4 tubulin tyrosine ligase-like family, member 4 1580863 16344560,15489334,12477932,11054573,8724849 9654 AK296054,AK302728,DB097392,NM_014640,AC009974,CH471063,AK291770,AL833511,BC021707,D79995 BAG58817,BAG63947,NP_055455,EAW70651,EAW70652,BAF84459,AAH21707,BAA11490,Q14679 Hs.471405 KIAA0173 OTTHUMP00000164099|OTTHUMP00000206425|OTTHUMP00000206426|tubulin polyglutamylase TTLL4|tubulin--tyrosine ligase-like protein 4 protein-coding 1350630 TTLL5 tubulin tyrosine ligase-like family, member 5 TTLL5 is a glucocorticoid receptor (GCCR; MIM 138040) coregulator that interacts with coactivators TIF2 (NCOA2; MIM 601993) and SRC1 (NCOA1; MIM 602691) (He and Simons, 2007 [PubMed 17116691]).[supplied by OMIM] 17116691,17081983,15890843,14702039,12508121,12477932,10231032,20308539,16169070,16344560,18045879,19416867,20374646 23093 NM_015072,AC007182,AC009399,AF107885,AL137329,AB023215,AK021879,AK024259,AK309748,AL133586,AL136808,AY237126,BC016625,BC110652,BC136472,BC136473,BX647530,CR533554,DA195275,GD137472,NG_016974 NP_055887,AAF23275,AAC79729,AAC79730,BAA76842,BAB14862,CAB63729,CAB66742,AAP75557,AAH16625,AAI10653,AAI36473,AAI36474,CAG38585,O95419,O95420,Q2TAY9,Q6EMB2,Q9UF64 Hs.709609 KIAA0998|MGC117189|STAMP SRC1 and TIF2 associated binding protein|SRC1 and TIF2-associated modulatory protein|tubulin polyglutamylase TTLL5 protein-coding 1605245 TTLL6 tubulin tyrosine ligase-like family, member 6 16443334,15890843,14702039,12477932 284076 AY898285,AY898286,AY898287,AY898288,AY898289,AY898290,AY898291,AY898292,AY898293,AY898294,AY898284,NM_173623,NM_001130918,AC068531,AY898275,AY898276,AY898277,AY898278,AY898279,AY898280,AY898281,AY898282,AY898283,AY898493,AY898494,AY898495,AY898496,AY898497,AY898498,AY898499,AY898500,AY898501,AY898502,AY898503,AY898504,AY898546,AY898547,AY898548,AY898549,AY898550,AY898551,AY898552,AY898553,AY898554,AY898555,AY898556,AY898557,AY898558,AY898559,AY898560,AY898561,AY898569,AY898570,AY898571,AY898572,AY898573,AY898574,AY898575,AY898576,AY898577,AY898578,AY898579,AY898580,AY898581,AY898582,AY898583,AY898584,AY898585,AY898586,AY898587,AY898588,AY898589,AY898590,AY898591,AY898592,AY898593,AY898594,AY898595,AY898596,AY898597,AY898598,AY898599,AY898600,AY898601,AY898602,AY898603,CH471109,AY898506,AY898507,AY898508,AY898509,AY898510,AY898511,AY898512,AY898513,AY898514,AY898515,AY898516,AY898517,AY898518,AY898519,AY898527,AY898528,AY898529,AY898530,AY898531,AY898532,AY898533,AY898534,AY898535,AY898536,AY898537,AY898538,AY898539,AY898540,AY898541,AY898542,AY898543,AY898544,AY898545,AY898505,AK093127,AK097392,AK302952,AK310321,AL834151,BC033563,BC041368,AY898296,AY898297,AY898298,AY898299,AY898300,AY898301,AY898302,AY898303,AY898304,AY898305,AY898306,AY898307,AY898308,AY898309,AY898359,AY898360,AY898361,AY898362,AY898363,AY898364,AY898365,AY898366,AY898367,AY898368,AY898295,AY898370,AY898369,AY898371,AY898372,AY898373,AY898374,AY898375,AY898376,AY898377,AY898378,AY898379,AY898380,AY898381,AY898382,AY898383,AY898384,AY898385,AY898386,AY898387,AY898388,AY898389,AY898390,AY898391,AY898392,AY898393,AY898401,AY898402,AY898403,AY898404,AY898405,AY898406,AY898407,AY898408,AY898409,AY898410,AY898411,AY898412,AY898413,AY898414,AY898415,AY898416,AY898417,AY898418,AY898419,AY898420,AY898421,AY898422,AY898423,AY898424,AY898425,AY898426,AY898427,AY898428,AY898429,AY898430,AY898431,AY898432,AY898433,AY898434,AY898435,AY898443,AY898444,AY898445,AY898446,AY898447,AY898448,AY898449,AY898450,AY898451,AY898452,AY898453,AY898454,AY898455,AY898456,AY898457,AY898458,AY898459,AY898460,AY898461,AY898462,AY898463,AY898464,AY898465,AY898466,AY898467,AY898468,AY898469,AY898470,AY898471,AY898472,AY898473,AY898474,AY898475,AY898476,AY898477,AY898485,AY898486,AY898487,AY898488,AY898489,AY898490,AY898491,AY898492 AAY28100,AAY28101,AAY28102,AAY28103,AAY28104,AAY28105,AAY28106,AAY28107,AAY28108,AAY28109,AAY28110,NP_775894,NP_001124390,AAY28091,AAY28092,AAY28093,AAY28094,AAY28095,AAY28096,AAY28097,AAY28098,AAY28099,AAX86348,AAX86349,AAX86350,AAX86351,AAX86352,AAX86353,AAX86347,AAX86354,AAX86355,AAX86356,AAX86357,AAX86358,AAX86359,AAX86401,AAX86402,AAX86403,AAX86404,AAX86405,AAX86406,AAX86407,AAX86408,AAX86409,AAX86410,AAX86411,AAX86412,AAX86413,AAX86414,AAX86415,AAX86416,AAX86424,AAX86425,AAX86426,AAX86427,AAX86428,AAX86429,AAX86430,AAX86431,AAX86432,AAX86433,AAX86434,AAX86436,AAX86437,AAX86438,AAX86439,AAX86440,AAX86441,AAX86442,AAX86443,AAX86444,AAX86445,AAX86446,AAX86447,AAX86448,AAX86449,AAX86450,AAX86451,AAX86452,AAX86453,AAX86454,AAX86455,AAX86456,AAX86457,AAX86458,EAW94709,EAW94710,AAX86435,AAX86360,AAX86361,AAX86362,AAX86363,AAX86364,AAX86365,AAX86366,AAX86367,AAX86368,AAX86369,AAX86370,AAX86371,AAX86372,AAX86373,AAX86374,AAX86382,AAX86383,AAX86384,AAX86385,AAX86386,AAX86387,AAX86388,AAX86389,AAX86390,AAX86391,AAX86392,AAX86393,AAX86394,AAX86395,AAX86396,AAX86397,AAX86398,AAX86399,AAX86400,EAW94711,EAW94712,EAW94713,BAC04066,BAG64107,CAH56366,AAH33563,Q658K6,Q8N841,AAY28111,AAY28112,AAY28113,AAY28114,AAY28115,AAY28116,AAY28117,AAY28118,AAY28119,AAY28120,AAY28121,AAY28122,AAY28123,AAY28124,AAY28125,AAX86214,AAX86215,AAX86216,AAX86217,AAX86218,AAX86219,AAX86220,AAX86221,AAX86222,AAX86223,AAX86225,AAX86224,AAX86226,AAX86227,AAX86228,AAX86229,AAX86230,AAX86231,AAX86232,AAX86233,AAX86234,AAX86235,AAX86236,AAX86237,AAX86238,AAX86239,AAX86240,AAX86241,AAX86242,AAX86243,AAX86244,AAX86245,AAX86246,AAX86247,AAX86248,AAX86256,AAX86257,AAX86258,AAX86259,AAX86260,AAX86261,AAX86262,AAX86263,AAX86264,AAX86265,AAX86266,AAX86267,AAX86268,AAX86269,AAX86270,AAX86271,AAX86272,AAX86273,AAX86274,AAX86275,AAX86276,AAX86277,AAX86278,AAX86279,AAX86280,AAX86281,AAX86282,AAX86283,AAX86284,AAX86285,AAX86286,AAX86287,AAX86288,AAX86289,AAX86290,AAX86298,AAX86299,AAX86300,AAX86301,AAX86302,AAX86303,AAX86304,AAX86305,AAX86306,AAX86307,AAX86308,AAX86309,AAX86310,AAX86311,AAX86312,AAX86313,AAX86314,AAX86315,AAX86316,AAX86317,AAX86318,AAX86319,AAX86320,AAX86321,AAX86322,AAX86323,AAX86325,AAX86326,AAX86327,AAX86328,AAX86329,AAX86330,AAX86331,AAX86332,AAX86340,AAX86341,AAX86342,AAX86343,AAX86344,AAX86345,AAX86346,AAX86324 Hs.91930 FLJ35808|TTL.6 OTTHUMP00000211215|tubulin polyglutamylase TTLL6|tubulin--tyrosine ligase-like protein 6 protein-coding 1605943 TTLL7 tubulin tyrosine ligase-like family, member 7 16710414,15890843,15489334,14702039,12477932,9373149,8125298,19749422 79739 NM_024686,AC104454,AL138844,CH471097,AK026686,AK094174,AK126792,AK128604,AK225574,AY170843,BC028350,BC032829,BC048970,BC060878,BG718305 NP_078962,CAI22725,EAW73251,EAW73252,BAB15526,BAC86695,BAC87524,AAO37763,AAH28350,AAH48970,AAH60878,Q6ZR01,Q6ZT98,Q8TC09 Hs.445826 FLJ23033|FLJ36855|RP5-836J3.2 testis development protein NYD-SP30|tubulin polyglutamylase TTLL7|tubulin--tyrosine ligase-like protein 7 protein-coding 2290198 TTLL8 tubulin tyrosine ligase-like family, member 8 15890843 164714 NM_001080447,AL022327 CAO03520,NP_001073916,A6PVC2 Hs.658992 OTTHUMP00000196723|protein monoglycylase TTLL8|tubulin--tyrosine ligase-like protein 8 protein-coding 1345675 TTLL9 tubulin tyrosine ligase-like family, member 9 15890843,14702039,12477932 164395 AL031658,AL160175,AL359765,CH471077,AK090839,AK093491,AK123328,AK302360,AK302806,AK303963,AL161969,BC036213,BC068593,NM_001008409,BC104025,BC104024 NP_001008409,CAI42576,CAI42577,CAH70173,EAW76401,EAW76402,EAW76403,EAW76404,EAW76405,EAW76406,EAW76407,EAW76408,BAG52730,BAG63685,BAG64008,BAG64887,AAI04025,AAI04026,Q3SXZ7 Hs.712915 C20orf125|MGC120486|MGC120487|dJ310O13.1 chromosome 20 open reading frame 125|probable tubulin polyglutamylase TTLL9|tubulin--tyrosine ligase-like protein 9 protein-coding 1605120 TTN titin This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. A N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere respectively so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Of the many titin variants identified, five for which complete transcript information is available are described. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9 and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq] 19911250,20414336,20414364,9501083,10481174,9804419,7569978,9817758,11846417,9548712,7607248,19608031,19282282,19179657,19134271,19023132,19013176,18948003,18519573,18212128,17920806,17890397,17669421,17574571,17522126,17496052,17444505,17366640,17028145,16949617,16766517,16733766,16713295,16627476,16531234,16465475,16465472,16410549,16407954,16322914,15967462,15849252,15815621,15802564,15632200,15507486,15489334,15345656,15322090,15238456,15211512,14702039,14676215,14593205,14583192,12891679,12865504,12816538,12785101,12785098,12555133,12482578,12477932,12446666,12444090,12432079,12414993,12221049,12202917,12198551,12187564,12145747,11927605,11911777,11851340,11812150,11800567,11799131,11788824,11746675,11717165,11701614,11525170,11448995,11305911,11178895,11084039,10987085,10850961,10462489,10053013,10051295,9782056,9763216,9645487,9642272,9359044,9251807,9185618,8937992,8631348,8604138,8537379,8522604,8351016,8063857,7819249,7613868,7588733,7505783,3397062,2129545,1582406,1429890,11243782,17353931,15385448,19913121,20542041,20628086,20625501,20634290,14630798,16902413,16962094,19003986,19622741,19651040,19679839,20031603,20171214,20479164,6457647,20489725,20571043,20808825,20926005,20952631 7273 NM_003319,AJ277892,X98114,NM_133437,NM_133432,NM_133378,NM_133379,NG_011618,AC009948,AC010680,AC023270,AF058332,CH471058,FJ695199,X64699,X92412,AF321609,AF525413,AK056602,AK091732,AK092284,AK096883,AK125056,AK129531,AK129919,AL713647,AL832094,AL832351,AL833110,AL833292,BC013396,BC017983,BC026297,BC029400,BC030823,BC058824,BC070170,BC107797,BX537998,DQ248309,EF212153,EF212154,EF212155,EF212156,EU428784,X64697,X64698,X69490,X83270,X90568,X90569,X98115,FJ525883 AAH58824,NP_003310,NP_597681,NP_597676,NP_596869,NP_596870,AAX88844,AAD22603,AAD22604,CAD12456,CAD12457,CAD12458,CAD12459,CAD12460,EAX11013,EAX11014,EAX11015,EAX11016,EAX11017,EAX11018,EAX11019,CAA45940,AAT09768,AAP80791,BAC03850,CAD28458,AAH13396,CAD12455,AAH70170,AAI07798,CAD97954,ABB55264,ABN05229,ABN05230,ABN05231,ABN05232,ACA00206,CAA45938,CAA45939,CAA49245,CAA58243,CAA62188,CAA62189,CAA66796,Q4ZG20,Q6ZP81,Q71S18,Q7Z3B7,Q8N237,Q8WZ42,Q8WZ50,CAA66795,ACN81321 Hs.134602 CMD1G|CMH9|CMPD4|CONNECTIN|DKFZp451N061|EOMFC|FLJ26020|FLJ26409|FLJ32040|FLJ34413|FLJ39564|FLJ43066|HMERF|LGMD2J|TMD connectin|rhabdomyosarcoma antigen MU-RMS-40.14|titin protein-coding 731914 TTPA tocopherol (alpha) transfer protein 1600430,1600432,1600436,1580863 7887897,7719340,7566022,19190344,19102053,18984846,18511174,18458085,16819822,15489334,15300460,15190938,15065857,14657365,12899840,12477932,12470185,9931538,9463307,8602747,8252047,19458973,8965888,17207965,20801516 1600430,1600432,1600436 7274 NM_000370,AC120042,AF031324,CH471068,BC041784,BC058000,D49488,U21938,NG_016123 NP_000361,AAC67490,EAW86863,AAH58000,BAA08449,AAA64309,P49638,ADQ32097 Hs.69049 ATTP|AVED|TTP1|alphaTTP alpha-TTP|alpha-tocopherol transfer protein|tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) protein-coding 1313976 TTPAL tocopherol (alpha) transfer protein-like 15489334,14702039,12477932,11780052,15761153 79183 NM_001039199,AL132772,CH471077,Z97053,AK056178,AK125126,AK307236,AK314045,BC003071,CR936621,NM_024331 NP_077307,NP_001034288,CAI18860,CAI18861,CAO03334,EAW75918,EAW75919,CAI19685,CAI19686,CAO03543,BAG36754,AAH03071,CAI56764,Q5CZA1,Q5QPC3,Q9BTX7 Hs.283869 C20orf121|DKFZp686E0870|MGC2470 OTTHUMP00000063221|alpha-tocopherol transfer protein-like protein-coding 737331 TTR transthyretin This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq] 1580523,1580525,1580526,1580527,1580528,1331525,1580863 20388560,10841549,14718574,19493541,19389624,19361464,19328595,19250316,19188365,19180884,19118530,19021760,18930252,18925456,18835560,18830126,18825272,18807501,18688962,18682810,18662699,18655780,18579156,18460047,18448869,18410945,18406527,18326041,18276611,18275060,18257091,18252270,18242169,18237193,18221012,18022643,17980738,17968690,17968687,17957146,17873539,17698792,17683510,17683281,2015890,1997217,1981182,1979335,1977686,1932142,1877623,1867256,1734866,1666289,1656975,1626570,1602151,1570831,1544214,1520336,1520326,1517749,1436517,1362222,1356051,1351039,1301926,671542,574085,201845,15610856,19922456,20373457,20840742,20736409,19922332,17671371,17630783,17577688,17558848,17503405,17487420,17466336,17431395,17378745,17203960,17196219,17176092,17143887,17116243,17062384,16893521,16892178,16879610,16751191,16732734,16716350,16698124,16690497,16552785,16487493,16386248,16335952,16225852,16219761,16204882,16199891,16194875,16189514,16185074,16169070,16159939,16130282,16114899,16079207,16076613,16053476,16011990,15995833,15930086,15821170,15793844,15736938,15649951,15536615,15489334,15214015,15210129,15033978,14981241,14760718,14690414,14673473,14604984,14578606,14534839,14507924,14506715,13367520,12900507,12876326,12874858,12874414,12771253,12697331,12665801,12593674,12566023,12560553,12481032,12477932,12433265,12403615,12354101,12095258,12082059,12039669,11995997,11913969,11853533,11709003,11577236,11478875,11445644,11418763,11243784,11106758,10982792,10882995,10854215,10845569,10842705,10742177,10704770,10694917,10671063,10627502,10627135,10529370,10465115,10071047,10052934,9818883,9818054,9789022,9771673,9307034,9191784,8990019,8960746,8857732,8784093,8692810,8579098,8549676,8428915,8406434,8382610,8352764,8309582,8257997,8218290,8133316,8095302,8095301,8089102,8081397,8038017,8019560,7946531,7923855,7914929,7910950,7850982,7839813,7794243,7754382,7599630,7474944,7417777,7033114,6651852,6583672,6549130,6487335,6300852,6208668,6093805,6087811,4952599,4607556,4328329,4216640,4054629,4044580,3818577,3762958,3760189,3722385,3714052,3675594,3479441,3229002,3135807,3028932,3022108,3022107,3011930,2995367,2990465,2891727,2877582,2693890,2613237,2363717,2360796,2320592,2174830,2161654,2122246,2046936,20211733,19626479,19626480,19913121,20628086,20646067,20660862,20697105,16716307,18485534,19401362,19410571,19428025,19477408,19501859,19601795,19602727,19664600,19703508,19781421,19808383,19861125,20132088,20143571,20435197,20462367,986177,20735474,20547140,20659897,21174946 1580523,1580525,1580526,1580527,1580528,1331525 7276 GU727633,NM_000371,NG_009490,AC079096,AF485253,AF485254,CH471088,M11518,M11844,M15515,M63285,S63185,S72385,S81436,AF162690,AK312051,BC005310,BC020791,BT007189,CA948224,CR456908,D00096,DB498675,DQ839490,K02091,M10605,M11714,U19780,X59498 ADU87635,NP_000362,AAL92042,AAL92043,EAX01264,EAX01265,EAX01266,AAA98771,AAA60013,AAA60018,AAA36784,AAD14937,AAD14098,AAB36045,AAD45014,BAG34987,AAH05310,AAH20791,AAP35853,CAG33189,BAA00059,ABI63351,AAA60011,AAA60012,AAA61181,AAA73473,CAA42087,P02766,Q53WY6,Q8TDB1,Q8TDB2 Hs.427202 HsT2651|PALB|TBPA ATTR|prealbumin, amyloidosis type I|thyroxine-binding prealbumin|transthyretin|transthyretin (prealbumin, amyloidosis type I) protein-coding 1348894 TTRAP TRAF and TNF receptor associated protein This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq] 1580863 20677014,18039968,10764746,19580783,19023331,18706885,17597587,15489334,14702039,14574404,12743594,12477932,11478795,10931946,14609633,19757154,15231748,19776380,19794497 51567 NM_016614,AL031775,AY613922,CH471087,AF201687,AF223469,AJ269473,AJ420495,AK002168,AK296623,AK298699,AK308836,BC017553,BC110375,CR592636,CR595644,CR597293,CR601303,CR602029 NP_057698,CAA21141,CAD92510,AAT09764,EAW55458,EAW55459,AAG35600,AAF64144,CAB92966,BAA92119,BAG59230,BAG60857,AAH17553,AAI10376,O95551,ABZ92143 Hs.403010 AD022|EAP2|MGC111021|MGC9099|RP1-30M3.3|TTRAP|dJ30M3.3 5'-Tyr-DNA phosphodiesterase|5'-tyrosyl-DNA phosphodiesterase|EAPII|ETS1-associated protein 2|ETS1-associated protein II|OTTHUMP00000016092|TRAF and TNF receptor associated protein|TRAF and TNF receptor-associated protein|tyr-DNA phosphodiesterase 2|tyrosyl-DNA phosphodiesterase 2 protein-coding 1346232 TTTY1 testis-specific transcript, Y-linked 1 (non-protein coding) 12815542,12815422,9847074,9381176 50858 NR_001538,AC017019,AF000990 Hs.584729 NCRNA00033|TTY1 miscrna 1344684 TTTY10 testis-specific transcript, Y-linked 10 (non-protein coding) 12815422 246119 NR_001542,AC011745,AF332239 NCRNA00133|TTY10 miscrna 1354260 TTTY11 testis-specific transcript, Y-linked 11 (non-protein coding) 12815422 83866 NR_001548,AC009491,AF332240 Hs.122396 NCRNA00134|TTY11 miscrna 1350774 TTTY12 testis-specific transcript, Y-linked 12 (non-protein coding) 12815422 83867 NR_001551,AC007275,AF332241 Hs.667616 NCRNA00135|TTY11|TTY12 miscrna 1346031 TTTY13 testis-specific transcript, Y-linked 13 1580863 12815422 83868 NR_001537,NG_004832,AC021107,AF332242 Hs.615432 NCRNA00136|TTY13 miscrna 4105754 TTTY13B testis-specific transcript, Y-linked 13B 8565703 100287735 AC009952,XM_002344439,XM_002346351,XM_002348242,X82181 Q9UMI4,XP_002344480,XP_002346392,XP_002348283,CAA57672 pFIV testis-specific transcript, Y-linked 13B protein-coding 4109270 TTTY13C testis-specific transcript, Y-linked 13C 100287979 XM_002344202,XM_002346350,XM_002348243 XP_002344243,XP_002346391,XP_002348284 testis-specific transcript, Y-linked 13C protein-coding 1342643 TTTY14 testis-specific transcript, Y-linked 14 (non-protein coding) 12815422 83869 NR_001543,AC007244,AC009235,AF332243 Hs.138453 NCRNA00137|TTY14 miscrna 1352248 TTTY15 testis-specific transcript, Y-linked 15 (non-protein coding) 12815422 64595 NR_001545,AC004810,AL080135 Hs.433656 DKFZp434I143|NCRNA00138 miscrna 1349594 TTTY16 testis-specific transcript, Y-linked 16 (non-protein coding) 12815422 252948 NR_001552,AC007274,AF527828 Hs.522848 NCRNA00139 miscrna 1343062 TTTY17A testis-specific transcript, Y-linked 17A (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq] 12815422 252949 NR_001526,NG_004755,AC016911,AF527829 Hs.522869 NCRNA00140|TTTY17 testis-specific transcript, Y-linked 17A|testis-specific transcript, y-linked 17 miscrna 1351032 TTTY17B testis-specific transcript, Y-linked 17B (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq] 12815422 474151 NR_002180,NG_004755,AC016698 NCRNA00141 miscrna 1347507 TTTY17C testis-specific transcript, Y-linked 17C (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq] 12815422 474152 NR_002179,NG_004755,AC006386 NCRNA00142 miscrna 1351766 TTTY18 testis-specific transcript, Y-linked 18 (non-protein coding) 12815422 252950 NR_001550,AC064829,AF527830 Hs.522852 NCRNA00143 miscrna 1349939 TTTY19 testis-specific transcript, Y-linked 19 (non-protein coding) 12815422 252952 NR_001549,AC064829,AF527831 Hs.522853 NCRNA00144 miscrna 3340286 TTTY1B testis-specific transcript, Y-linked 1B (non-protein coding) 12815422,9847074 100101116 AC006335,NR_003589 miscrna 1353377 TTTY2 testis-specific transcript, Y-linked 2 (non-protein coding) 12815422,9381176 60439 NR_001536,AC017019,AF000991,DB449030 Hs.158345 NCRNA00109|TTY2 miscrna 1348529 TTTY20 testis-specific transcript, Y-linked 20 (non-protein coding) 12815422 252951 NR_001546,AC006158,AF527832 Hs.632292 NCRNA00145 miscrna 1352031 TTTY21 testis-specific transcript, Y-linked 21 (non-protein coding) 12815422 252953 NR_001535,AC017019,AF527833 Hs.522847 NCRNA00146 miscrna 3340303 TTTY21B testis-specific transcript, Y-linked 21B (non-protein coding) 12815422,9847074 100101115 AC006335,AF527833,NR_003588 Hs.522847 miscrna 1343579 TTTY22 testis-specific transcript, Y-linked 22 (non-protein coding) 12815422 252954 NR_001539,AC010891,AC017019,AF527834 Hs.511961 NCRNA00147 miscrna 1346646 TTTY23 testis-specific transcript, Y-linked 23 (non-protein coding) 12815422 252955 NR_001540,AC006986,AF527836 Hs.522846 NCRNA00148 miscrna 3340275 TTTY23B testis-specific transcript, Y-linked 23B (non-protein coding) 12815422,9847074 100101121 AC006335,AF527836,NR_003593 Hs.522846 miscrna 3028768 TTTY24P testis-specific transcript, Y-linked 24, pseudogene 100287941 AC007967 pseudo 3254938 TTTY25P testis-specific transcript, Y-linked 25, pseudogene 100287026 AC007320 pseudo 3051035 TTTY26P testis-specific transcript, Y-linked 26, pseudogene 100287818 AADB02037565,AC007274 pseudo 3051033 TTTY27P testis-specific transcript, Y-linked 27, pseudogene 100287874 AC016991 pseudo 3102875 TTTY28P testis-specific transcript, Y-linked 28, pseudogene 100287606 AC006991 pseudo 3231840 TTTY29P testis-specific transcript, Y-linked 29, pseudogene 100287167 AC009947 pseudo 3340311 TTTY2B testis-specific transcript, Y-linked 2B (non-protein coding) 12815422,9847074 100101117 AC006335,NR_003590 miscrna 1350311 TTTY3 testis-specific transcript, Y-linked 3 (non-protein coding) There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq] 12815422 114760 NR_001524,NG_004755,AC010682,AF332230 Hs.511777 NCRNA00121|TTTY3A|TTY3 miscrna 4105739 TTTY30P testis-specific transcript, Y-linked 30, pseudogene 100287844 AC016749 pseudo 4109286 TTTY31P testis-specific transcript, Y-linked 31, pseudogene 100287905 AC007967 pseudo 1349314 TTTY3B testis-specific transcript, Y-linked 3B (non-protein coding) There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq] 12815422 474148 NR_002176,NG_004755,AC073893 NCRNA00122 miscrna 1348326 TTTY4 testis-specific transcript, Y-linked 4 (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq] 12815422 114761 NR_001525,NG_004755,AC006366,AF332231 Hs.679521 NCRNA00123|TTTY4A|TTY4 miscrna 1350699 TTTY4B testis-specific transcript, Y-linked 4B (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq] 12815422 474149 NR_002178,NG_004755,AC010153 NCRNA00124 miscrna 1353688 TTTY4C testis-specific transcript, Y-linked 4C (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq] 12815422 474150 NR_002177,NG_004755,AC016728 NCRNA00125 miscrna 1605324 TTTY5 testis-specific transcript, Y-linked 5 (non-protein coding) There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq] 12815422,11687796 83863 NG_004755,AC007320,AF332236,NR_001541 Hs.121389 NCRNA00126|TTY5 miscrna 1353962 TTTY6 testis-specific transcript, Y-linked 6 (non-protein coding) There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq] 12815422 84672 NR_001527,NG_004755,AC007320,AF332237 Hs.722660 NCRNA00127|TTTY6A|TTY6 miscrna 1347321 TTTY6B testis-specific transcript, Y-linked 6B (non-protein coding) There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq] 12815422,17114936 441543 NR_002175,NG_004755,AC023342,AA884105,AY597808 Hs.722660,Hs.535085 NCRNA00128|TTTY6|TTY6 miscrna 1348603 TTTY7 testis-specific transcript, Y-linked 7 (non-protein coding) 12815422 246122 NR_001534,AC006335,AF278761,AF278762,AF332232,AF332233,AW514248 Hs.407277 CLONE795723|NCRNA00129|TTTY7A|TTTY7B|TTY7 miscrna 2798411 TTTY7B testis-specific transcript, Y-linked 7B (non-protein coding) 12815422,9847074 100101120 AC017019,BX089948,NR_003592 Hs.711912 NCRNA00215 miscrna 1346627 TTTY8 testis-specific transcript, Y-linked 8 (non-protein coding) 12815422,12477932 84673 BC026100,NR_001533,AC017019,AF332234,AF332235 Hs.461138 NCRNA00130|TTY8 miscrna 2798400 TTTY8B testis-specific transcript, Y-linked 8B (non-protein coding) 12815422,9847074 100101118 AA620621,AC010154,AF332234,AF332235,BC026100,NR_003591 Hs.461138 NCRNA00217 miscrna 1353702 TTTY9A testis-specific transcript, Y-linked 9A (non-protein coding) This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq] 12815422 83864 NR_001530,NG_004636,AC007379,AF332238 Hs.724282 NCRNA00131|TTTY9|TTY9 testis-specific transcript, Y-linked 9A|testis-specific transcript, y-linked 9 miscrna 1603457 TTTY9B testis-specific transcript, Y-linked 9B (non-protein coding) This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq] 17114936,12815422 425057 NR_002159,NG_004636,AC022486,AF332238 Hs.724282 NCRNA00132|TTTY9|TTTY9A|TTY9 miscrna 1320816 TTYH1 tweety homolog 1 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 10950931,18577513,15010458,12477932,8889548 57348 AK126690,AK289468,AK293468,BC011347,BC019358,BC065919,BX402889,CR597839,CR624363,BU737336,NM_001201461,NM_001005367,AC008746,CH471135,CU207370,CU467002,AB162930,AB188496,NM_020659,AF177909 AAG02580,BAC86645,BAF82157,BAH11515,AAH11347,AAH19358,Q9H313,NP_001188390,NP_065710,NP_001005367,EAW72239,EAW72240,EAW72241,EAW72242,EAW72243,EAW72244,EAW72245,EAW72246,CAQ52428,CAQ52429,CAQ52430,CAQ08949,CAQ08950,CAQ08951,CAQ08952,BAD20189,BAD37142 Hs.268728 hTTY1|protein tweety homolog 1 protein-coding 1354269 TTYH2 tweety homolog 2 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 18577513,18260827,17569141,15010458,14739304,14702039,12477932,11597145,20098747 94015 NM_032646,NM_052869,AC100786,CH471099,AF319952,AK058197,AK091085,AK126955,AK296511,AK315163,AL831858,BC004233,BC005168,BC107492,BC107602,BF529231,BX647912 NP_116035,NP_443101,EAW89142,EAW89143,AAL16784,BAC03579,BAG54409,BAG59143,BAG37607,CAD38555,AAH05168,AAI07493,AAI07603,CAH10576,Q8N3U8,Q9BSA4 Hs.27935 C17orf29|MGC126172|MGC4837 hTTY2|protein tweety homolog 2 protein-coding 1319948 TTYH3 tweety homolog 3 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq] 15010458,18577513,14702039,12477932,11214970 80727 BC041603,BC069027,BC131824,BC152447,NM_025250,AC006028,AC073462,CH236953,CH471144,AB051478,AB162931,AF318350,AK074158,AK096851,AK124608,AL522452,AL833825 CAH10666,AAI31825,AAI52448,Q69YH1,Q8WYU9,Q9C0H2,NP_079526,EAL23958,EAW87265,EAW87266,EAW87267,EAW87268,BAB21782,BAD20190,AAL55857,BAB84984,BAC85898 Hs.440899 KIAA1691 hTTY3|protein tweety homolog 3 protein-coding 1343505 TUB tubby homolog (mouse) This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1625564,1625565,1580863 18029348,19486527,11000483,19077438,19058789,18183286,17955208,17498679,16443771,15489334,12477932,11801719,11375483,10591637,10455176,9096357,8612280,1358794,19913121,20628086,19837063,20080650,20935630,20978472 1625564,1625565 7275 NM_003320,NM_177972,AC116456,AJ277662,AJ296302,CH471064,AB209618,AK293528,BC036400,BC075031,BC075032,BM992151,CR617957,CR619255,U54644,U82467 NP_003311,NP_813977,CAC14586,CAC39298,EAW68632,EAW68633,EAW68634,BAD92855,BAG57010,AAH75031,AAH75032,AAB53494,AAB53699,P50607,Q96JS0,Q9H4D2,ABZ92240 Hs.568986,Hs.720186 rd5 tubby homologue|tubby protein homolog protein-coding 1607082 TUBA1A tubulin, alpha 1a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to mouse and rat Tuba1 gene. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. [provided by RefSeq] 19405953,19251251,18954413,18728072,18669490,18199681,17914564,17584854,17218254,17081983,16941085,15952740,15489334,15121898,14583623,12486001,12477932,12429849,12417528,12052866,11964161,11953448,11842207,11687285,11504633,11163133,11146551,11121746,10908577,10862713,9722999,9553134,9384577,7651436,6646120,3839072,16148047,15103018,15331610,16327313,15698476,15691386,10772929,12639940,12621024,14697242,14594945,14506234,14634002,16945107,16714300,20603323,11076968,12221128,12852856,16462731,16799092,19615732,7790358,20466733 7846 CR613183,CR613508,CR613952,CR614113,CR614118,CR614212,CR614316,CR614334,CR614350,CR614378,CR614551,CR614572,CR615075,CR615137,CR615166,CR615205,CR615495,CR615697,CR615711,CR615724,CR616032,CR616036,CR616051,CR616068,CR616370,CR616371,CR616410,CR616525,CR616625,CR616875,CR616897,CR616952,CR616965,CR616978,CR616979,CR616980,CR617030,CR617729,CR617789,CR617927,CR618187,CR618255,CR618339,CR618385,CR618500,CR618708,CR618711,CR618736,CR618788,CR618923,CR618941,CR619179,CR619222,CR619445,CR619454,CR619513,CR619658,CR619898,CR619965,CR620189,CR620195,CR620492,CR620710,CR620745,CR620793,CR620859,CR621097,CR621215,CR621268,CR621574,CR621641,CR621713,CR621897,CR621901,CR622155,CR622451,CR622543,CR622591,CR622843,CR623135,CR623412,CR623579,CR623663,CR623665,CR623826,CR624073,CR624125,CR624173,CR624183,CR624192,CR624685,CR624772,CR624888,CR625013,CR625134,CR625301,CR625536,CR625764,CR626048,CR626181,CR626392,CR626641,CR626848,K00557,NM_006009,NG_008966,AC010173,CH471111,X01703,AF141347,AF141348,AK057842,AK289483,AK297775,AK298838,BC006468,BC050637,BC057823,CR590305,CR590348,CR590541,CR590784,CR590896,CR590950,CR590984,CR591011,CR591133,CR591241,CR591275,CR591424,CR591464,CR591504,CR591515,CR591653,CR591654,CR591655,CR592034,CR592062,CR592123,CR592132,CR592146,CR592293,CR592430,CR592537,CR592605,CR592638,CR592696,CR592708,CR593029,CR593050,CR593163,CR593244,CR593264,CR593317,CR593320,CR593488,CR593739,CR593877,CR593994,CR594034,CR594060,CR594062,CR594066,CR594084,CR594477,CR594550,CR594647,CR595041,CR595260,CR595385,CR595457,CR595514,CR595876,CR596285,CR596409,CR596417,CR596509,CR596555,CR596750,CR596815,CR596836,CR596908,CR596970,CR596983,CR597413,CR597522,CR597725,CR597918,CR598057,CR598075,CR598102,CR598217,CR598369,CR598408,CR598412,CR598516,CR598675,CR598719,CR598945,CR598958,CR598973,CR598989,CR599102,CR599248,CR599543,CR599666,CR599962,CR600079,CR600113,CR600126,CR600172,CR600175,CR600236,CR600237,CR600390,CR600829,CR600854,CR600932,CR601427,CR601535,CR601584,CR601586,CR601913,CR601951,CR602040,CR602196,CR602360,CR602663,CR602723,CR602775,CR602824,CR602913,CR603584,CR603604,CR603623,CR603752,CR603942,CR603945,CR603969,CR604006,CR604014,CR604072,CR604076,CR604467,CR604529,CR604534,CR604714,CR604782,CR604788,CR605154,CR605195,CR605304,CR605308,CR605491,CR605536,CR605616,CR605985,CR606118,CR606121,CR606172,CR606863,CR606938,CR606970,CR607118,CR607200,CR607235,CR607284,CR607378,CR607379,CR607806,CR607886,CR607887,CR607938,CR607971,CR608160,CR608373,CR608399,CR608442,CR608525,CR608614,CR608804,CR608850,CR608895,CR608967,CR609323,CR609424,CR609686,CR609811,CR610065,CR610101,CR610265,CR610612,CR610649,CR610674,CR610761,CR611043,CR611047,CR611222,CR611347,CR611610,CR611647,CR612458,CR612520,CR612526,CR612699,CR612808,CR612996,CR613002 AAA91575,Q71U36,Q9UQM3,ABM92196,ABW03282,NP_006000,EAW58052,EAW58053,EAW58054,EAW58055,CAA25855,AAD33871,AAD33872,BAF82172,BAG60120,BAG60966,AAH06468,AAH50637 Hs.654422 B-ALPHA-1|FLJ25113|LIS3|TUBA3 alpha-tubulin 3|hum-a-tub1|hum-a-tub2|tubulin B-alpha-1|tubulin alpha-1A chain|tubulin alpha-3 chain|tubulin, alpha 3|tubulin, alpha, brain-specific protein-coding 1603700 TUBA1B tubulin, alpha 1b 19409876,19405953,19215229,19174478,18790094,18354170,18195004,17628775,15592455,15489334,14702039,12750376,12486001,12477932,12087096,12054644,11953448,11826099,11580271,11535601,11532003,11146551,11082048,10908577,10840040,9372968,8895530,8619814,8098743,8097117,7651436,7592789,6646120,16148047,15103018,15331610,15698476,15691386,12481031,15806149,14697242,11698390,12235145,12606581,15032605,15556606,16824193,18806873,19996280,20162433,20204303,20381070 10376 CR597437,CR597539,CR597794,CR597815,CR597950,CR598221,CR598224,CR598300,CR598670,CR599074,CR599177,CR599677,CR599735,CR600193,CR600315,CR600393,CR600417,CR600538,CR600567,CR600593,CR600622,CR600842,CR600993,CR601121,CR601501,CR601611,CR601733,CR601856,CR601945,CR601948,CR602147,CR602181,CR602330,CR602349,CR602392,CR602450,CR602495,CR602654,CR602710,CR602735,CR602870,CR602889,CR603156,CR603274,CR603283,CR603658,CR603730,CR603766,CR603773,CR603824,CR603952,CR604178,CR604402,CR604505,CR604756,CR605007,CR605211,CR605348,CR605691,CR605932,CR606063,CR606298,CR606361,CR606765,CR606942,CR607102,CR607151,CR607495,CR607582,CR607620,CR607910,CR607987,CR608236,CR608386,CR609140,CR609219,CR609413,CR609668,CR609718,CR609934,CR609944,CR610060,CR610163,CR610291,CR610313,CR610425,CR610502,CR610660,CR611370,CR611376,CR611475,CR611507,CR611532,CR611737,CR611786,CR611829,CR611830,CR611855,CR611979,CR612379,CR612398,CR612428,CR612445,CR612505,CR612715,CR612797,CR612840,CR612923,CR613007,CR613187,CR613273,CR613561,CR613608,CR613742,CR613821,CR614024,CR614038,CR614069,CR614072,CR614523,CR614796,CR614914,CR614999,CR615371,CR615392,CR615512,CR615587,CR615656,CR615774,CR615776,CR616095,CR616115,CR616213,CR616228,CR616286,CR616313,CR616522,CR617007,CR617050,CR617067,CR617138,CR617205,CR617226,CR617228,CR617719,CR617740,CR617924,CR618128,CR619075,CR619248,CR619455,CR619461,CR619531,CR619775,CR620270,CR620299,CR620382,CR620811,CR620919,CR621168,CR621370,CR621394,CR621408,CR621573,CR621886,CR621902,CR622154,CR622622,CR622900,CR623078,CR623177,CR623652,CR623786,CR623790,CR624068,CR624242,CR624272,CR624313,CR624469,CR624752,CR625049,CR625253,CR625303,CR625399,CR625436,CR625601,CR625662,CR625844,CR625994,CR625995,CR626337,CR626816,DQ400107,CR607884,NM_006082,AC011603,CH471111,AF081484,AK026516,AK026632,AK056693,AK057773,AK094717,AK098357,AK098635,AK098771,AK289354,AK293337,BC000696,BC001128,BC006379,BC006481,BC008659,BC009314,BC009509,BC009512,BC009513,BC010494,BC011572,BC015883,BC017004,BC018948,BC021564,BC030820,BC071904,BF979331,CR590002,CR590282,CR590442,CR590455,CR590534,CR590544,CR590547,CR590711,CR590724,CR590894,CR590951,CR591067,CR591119,CR591179,CR591428,CR591771,CR591890,CR592278,CR592391,CR592524,CR592575,CR592687,CR592813,CR592843,CR592845,CR592846,CR592985,CR593171,CR593380,CR593419,CR593762,CR593846,CR594053,CR594074,CR594077,CR594096,CR594632,CR594788,CR595149,CR595240,CR595471,CR595709,CR595808,CR596428,CR596531,CR596686,CR596691,CR596709,CR596758,CR596951,CR597064,CR597129,CR597298,CR597427,CR607750,K00558,S62639,Z36832 ABD60581,NP_006073,EAW58048,EAW58049,AAC31959,BAG51785,BAG52918,BAF82043,BAG56853,AAH00696,AAH01128,AAH06379,AAH06481,AAH08659,AAH09314,AAH09509,AAH09512,AAH09513,AAH10494,AAH11572,AAH15883,AAH17004,AAH21564,AAH30820,AAH71904,AAA91576,P68363,Q8WU19,ABM82424,ABM85615 Hs.524390 K-ALPHA-1 alpha tubulin|alpha-tubulin ubiquitous|tubulin K-alpha-1|tubulin alpha-1B chain|tubulin alpha-ubiquitous chain|tubulin, alpha, ubiquitous protein-coding 1606486 TUBA1C tubulin, alpha 1c 17373842,17081983,16236267,15592455,15489334,12486001,12477932,12090300,10908577,9373149,8125298,7821789,1602151,16148047,15103018,15331610,16327313,15698476,15691386 84790 NM_032704,AC125611,CH471111,AK223024,BC004949,BC005946,BC011790,BC019298,BC021088,BC033064,BC051297,BC063036,CR595837,CR599151,CR599275,CR599812,CR603141,CR605574,CR610386,CR613152,CR624182,D28390,AK293589 NP_116093,EAW58057,BAD96744,AAH04949,AAH05946,AAH11790,AAH19298,AAH21088,AAH33064,AAH51297,AAH63036,BAA05756,Q53GA7,Q8N532,ABM83912,ABM87234,Q9BQE3,BAH11541 Hs.725987 MGC10851|MGC14580|TUBA6|bcm948 alpha-tubulin 6|tubulin alpha-1C chain|tubulin alpha-6 chain|tubulin, alpha 6 protein-coding 1605119 TUBA3C tubulin, alpha 3c Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq] 16189514,15489334,15324660,15057823,14760703,12486001,12477932,11953448,11826099,11535601,11278332,11163133,11146551,11121746,11082048,10908577,10840040,10036193,9722999,9465305,9372968,8566014,8530067,7651436,15103018,16148047,15331610,16327313,15698476,15691386,14583623 7278 NM_006001,AF005392,AL139327,CH471075,DQ422808,BC011721,L11645 NP_005992,AAC39578,CAH73534,EAX08210,EAX08211,ABD72607,AAH11721,AAA35521,Q13748,Q1ZYQ1,AAX29832,ABM83795,ABM86864 Hs.349695 TUBA2|TUBA3D|bA408E5.3 alpha-tubulin 2|alpha-tubulin 3C/D|tubulin alpha-2 chain|tubulin alpha-3C/D chain|tubulin, alpha 2 protein-coding 1606186 TUBA3D tubulin, alpha 3d 16189514,14702039,12477932,3785200,17207965 113457 NM_080386,AC073869,K03460,AK093116,AK292253,AW966211,BC057810 NP_525125,AAA36785,BAF84942,AAH57810,Q13748,Q15670,ADQ33041 Hs.503749 H2-ALPHA|TUBA3C alpha-tubulin 2|alpha-tubulin 3C/D|alpha-tubulin isotype H2-alpha|tubulin alpha-2 chain|tubulin alpha-3C/D chain protein-coding 1604550 TUBA3E tubulin, alpha 3e 17207965,12477932 112714 HC007370,NM_207312,AC018804,AA397983,AK131043,BC057811 ADQ32962,CBH19490,NP_997195,AAH57811,Q6PEY2 Hs.433336 alpha-tubulin 3E|tubulin alpha-3E chain protein-coding 1344170 TUBA4A tubulin, alpha 4a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. [provided by RefSeq] 14697242,18391951,16257120,16169070,16039987,15934946,15659558,15592455,15489334,15345747,15324660,15184364,15129282,14702039,14634002,14594945,12749852,12716939,12639963,12639940,12620231,12486001,12482968,12477932,12377379,12353262,12134159,12087096,12054644,12052837,12024216,11964161,11953448,11942621,11563969,11278895,11163133,11146551,11121746,10942575,10908577,10191277,10037711,9922135,9885248,9722999,9593747,9265649,8856662,8631991,8617742,8566014,8530437,8325901,8294455,7878030,7744867,7651436,3839072,3785200,3029670,1657993,15103018,16148047,15331610,16327313,15698476,15691386,12963086,11166179,20546612,11076968,12221128,12852856,14630798,16462731,16799092,6457647,7790358,20668689 7277 NM_006000,AC068946,AY895018,CH471063,X06956,AK054731,AK299958,BC009238,BC018854,BT006731,CR609291,CR620681,CR626582 NP_005991,AAW65371,EAW70718,EAW70719,CAA30026,BAG51418,BAH13182,AAH09238,AAP35377,P68366,ABM84750 Hs.75318 FLJ30169|H2-ALPHA|TUBA1 OTTHUMP00000165869|OTTHUMP00000165870|OTTHUMP00000165871|OTTHUMP00000205871|alpha-tubulin 1|testis-specific alpha-tubulin|tubulin H2-alpha|tubulin alpha-1 chain|tubulin alpha-4A chain|tubulin, alpha 1 (testis specific) protein-coding 1345961 TUBA4B tubulin, alpha 4b (pseudogene) 1580863 14702039,12486001,12477932,10908577,3785200 80086 NR_003063,AC068946,CH471063,AK024002,BC121126,BC121127 EAW70720,EAW70721,BAB14767,Q9H853 Hs.664469 FLJ13940|TUBA4 putative tubulin-like protein alpha-4B|tubulin, alpha 4 pseudo 1352677 TUBA8 tubulin, alpha 8 1580863 16380905,15489334,15461802,14702039,12486001,12477932,11953448,11146551,10908577,10840040,10772959,10591208,9885248,7651436,16148047,15103018,16344560,15331610,16327313,15698476,15691386,19913121,20628086,17643375,19896110,20466094 51807 NM_018943,AC008079,AC016027,CH471193,AJ245922,AK056947,AK315316,BC074827,BC104845,BX537702,CR456600,CR620426,DA059342,NG_023429,NM_001193414 NP_061816,EAW57788,EAW57789,CAB88036,BAG51831,BAG37719,AAH74827,AAI04846,CAD97815,CAG30486,Q7Z3M3,Q9NY65,CAK54631,CAK54930,NP_001180343 Hs.137400 TUBAL2 OTTHUMP00000196217|alpha-tubulin 8|tubulin alpha chain-like 2|tubulin alpha-8 chain|tubulin, alpha-like 2 protein-coding 1344639 TUBAL1 tubulin, alpha-like 1 2444926 7279 1313230 TUBAL3 tubulin, alpha-like 3 1580863 19240061,12477932,16344560 79861 NM_024803,AL683826,CH471072,AK025318,AK296616,BC098247,BC099716,BC105634,DA890426,NM_001171864 NP_079079,CAI23625,EAW86447,BAB15110,BAG59224,AAH98247,AAH99716,AAI05635,A6NHL2,NP_001165335 Hs.163079 FLJ21665|MGC119347|MGC119349 OTTHUMP00000216159|tubulin alpha chain-like 3 protein-coding 1342822 TUBAP tubulin, alpha pseudogene 20125088,10830953 54016 NG_000900,AP000459 pseudo 1347988 TUBAP2 tubulin, alpha pseudogene 2 79259 1606428 TUBB tubulin, beta 20677014,11120798,16130169,19405953,19034380,17869412,17569113,17488662,17389232,16941085,16702430,16380805,16371510,15592455,15489334,15120663,15003198,12893435,12826311,12477932,12209587,11504633,9110174,8619474,8270253,6865944,6688039,3782288,16526095,19019082,9553134,15331635,11590136,12639940,12620231,12872123,12966166,14594945,14603253,12482968,10022909,10191277,10722852,11076968,11278895,11870213,11964161,12134159,12221128,12353262,12606581,12639963,12716939,12852856,12855424,12884273,12963728,14634002,14760703,15121898,15188402,15304323,15324660,15556606,1629950,16462731,16824193,19041431,19851445,7556643,7744867,7790358,8103323,8530437,8700896,9581762,9629920,9886087,9922135,9973324 203068 NM_178014,AB088100,AB103606,AB202098,AL662797,AL662848,AL845353,BA000025,BX248307,BX927283,CH471081,CR759873,CR788240,CR936878,J00314,AB062393,AF070561,AF070593,AF070600,AF141349,AK098772,AK297489,AK297638,AK298889,AK302314,AK309684,AK316265,AK316316,BC001002,BC001896,BC001938,BC002347,BC005838,BC007605,BC013374,BC015889,BC019924,BC020946,BC021909,BC029323,BC062532,BC070326,BC103746,CR590041,CR590449,CR590523,CR591033,CR591054,CR591348,CR591420,CR591614,CR591713,CR591865,CR592478,CR592844,CR593116,CR593906,CR594368,CR594478,CR594628,CR594633,CR594701,CR594975,CR595089,CR595191,CR595241,CR595266,CR595288,CR595417,CR595490,CR595719,CR595961,CR595996,CR596111,CR596206,CR596247,CR596256,CR596434,CR596438,CR596484,CR596510,CR596743,CR597262,CR597459,CR597982,CR598038,CR598257,CR598285,CR598437,CR598513,CR599140,CR599197,CR599205,CR599452,CR599668,CR599767,CR600522,CR600785,CR600934,CR600973,CR601013,CR601330,CR601344,CR601589,CR601607,CR601668,CR602045,CR602389,CR602430,CR602712,CR603136,CR603160,CR603542,CR603568,CR603644,CR603794,CR603884,CR604162,CR604556,CR604712,CR604797,CR604912,CR605261,CR605680,CR605815,CR605898,CR606296,CR606806,CR607031,CR607126,CR607420,CR607488,CR607608,CR607721,CR607899,CR608555,CR608598,CR608670,CR608834,CR609320,CR609662,CR609663,CR609910,CR609919,CR610589,CR610704,CR610783,CR610813,CR610916,CR611048,CR611055,CR611118,CR611872,CR611874,CR612087,CR612441,CR612543,CR612751,CR612807,CR612875,CR612988,CR613167,CR613213,CR613221,CR613623,CR613923,CR614275,CR614355,CR614676,CR615095,CR615134,CR615318,CR615486,CR615817,CR616054,CR616066,CR616207,CR616650,CR616894,CR616992,CR617111,CR617178,CR617269,CR617649,CR617680,CR617749,CR617779,CR618102,CR618191,CR618223,CR618338,CR618797,CR619202,CR619520,CR619635,CR619725,CR619755,CR620097,CR620192,CR620286,CR620319,CR620403,CR620593,CR620650,CR620673,CR620727,CR620764,CR620784,CR620946,CR621096,CR621201,CR621356,CR621493,CR621812,CR621916,CR622048,CR622219,CR623734,CR623850,CR624075,CR624306,CR624565,CR624578,CR624579,CR624717,CR624775,CR625151,CR625193,CR626264,CR626370,CR626396,CR626650,CR626716,CR626734,CR626769,CR626833,DQ457058,EF036509,V00599 NP_821133,BAC54932,BAF31267,BAE78618,CAI18196,CAI18197,CAM25516,CAI17441,CAI17442,CAI41892,CAI41893,CAI41894,BAB63321,CAM25933,CAQ06774,EAX03322,EAX03323,EAX03324,CAQ08695,CAQ07576,CAQ06818,AAB59507,BAB93480,AAC28642,AAC28650,AAC28654,AAD33873,BAG59907,BAG60010,BAG61001,BAG63652,BAH14636,BAH14687,AAH01896,AAH01938,AAH02347,AAH05838,AAH07605,AAH13374,AAH15889,AAH19924,AAH20946,AAH21909,AAH62532,AAH70326,AAI03747,ABE96641,ABO65095,CAA23844,P07437,Q1KSF8,Q5ST81,Q6LC01,Q6P602,Q96B85,Q9BUU9,ABM82668,ABM82754,ABM85846,Q5SU16 Hs.636480,Hs.706187 M40|MGC117247|MGC16435|OK/SW-cl.56|TUBB1|TUBB5 OTTHUMP00000164860|beta 5-tubulin|beta Ib tubulin|beta-4 tubulin|tubulin beta chain|tubulin beta polypeptide|tubulin beta-1 chain|tubulin beta-5 chain|tubulin, beta polypeptide protein-coding 1345439 TUBB1 tubulin, beta 1 1580863 20532885,19388931,19132255,19074767,18849486,17993481,17488662,16095531,15956286,15489334,15315966,15304323,12665801,12486001,12477932,11790298,11780052,10908577,16526095,15331610,15698476,14583623,20103599,15691386,18806873,19996274,3782288 81027 NM_030773,AL109840,CH471077,AJ292757,BC033679,BI821931,NG_023424 NP_110400,CAC09371,EAW75447,CAC16605,AAH33679,Q9H4B7 Hs.303023 dJ543J19.4 beta tubulin 1, class VI|tubulin beta-1 chain protein-coding 2902967 TUBB1P1 tubulin, beta 1 pseudogene 1 11731935,12815422,9847074 349448 AC007241,AF355114,NG_004636 pseudo 3566506 TUBB1P2 tubulin, beta 1 pseudogene 2 12815422,9847074 140004 AC015978,NG_004636 pseudo 1347978 TUBB2A tubulin, beta 2A 1580863 12134159,12064592,12052837,11964161,11870213,11749959,11532003,11278895,11120798,10908577,10722852,10191277,10022909,9973324,9922135,9886087,9629920,9581762,9553134,8856662,8706133,8700896,8530437,8462682,8325901,8270253,8103323,7878030,7744867,7556643,6688039,3782288,1629950,1602151,16526095,15331610,15698476,15691386,12963086,15121898,15082789,14760703,14634002,14603253,14594945,14583623,14574404,12966166,12963728,12884273,12872123,12861402,12855424,12840015,12716939,12639963,12639940,12486001,12482968,12477932,12353262,12214803,12211114,12209967,17373842,15548702,15489334,15331635,15324660,15304323,15188402,16169070,19019082,20381070 7280 NM_001069,AL031963,CH471087,AK312621,AL038778,AY159127,BC001194,BC018780,BC127873,BC141924,BC141925,CR541958,CR621429,CR622337,CR622339,CR622390,CR622412,CR623067,CR623366,CR624309,CR625133,CR625236,CR625254,CR625591,CR625780,CR625976,CR626259,CR626317,CR626699,X79535,CR619702,CR590036,CR590622,CR590780,CR604103,CR604232,CR604438,CR604568,CR605559,CR605920,CR606200,CR606396,CR606676,CR606777,CR606957,CR607116,CR607133,CR607249,CR607801,CR608384,CR609109,CR609227,CR609813,CR609893,CR610063,CR610412,CR610781,CR610880,CR610953,CR611682,CR611798,CR611807,CR612041,CR612165,CR612352,CR612353,CR612375,CR612607,CR613025,CR613132,CR613474,CR613824,CR613933,CR613947,CR613984,CR613999,CR614048,CR614414,CR614673,CR615115,CR615252,CR615491,CR615503,CR615691,CR615969,CR616037,CR616211,CR616600,CR616836,CR616964,CR616982,CR617580,CR617681,CR617869,CR618368,CR618382,CR618559,CR618669,CR618681,CR618790,CR619672,CR610505,CR590919,CR591003,CR591244,CR591455,CR592050,CR592130,CR592208,CR592255,CR592533,CR592565,CR592667,CR592945,CR593066,CR593281,CR593437,CR593491,CR593510,CR593534,CR594033,CR594382,CR594523,CR594966,CR594980,CR595313,CR595590,CR595717,CR596047,CR596489,CR596599,CR596844,CR596967,CR597070,CR597215,CR598040,CR598304,CR598514,CR599827,CR599861,CR600111,CR600143,CR600546,CR601063,CR601426,CR601512,CR601857,CR601941,CR602239,CR602730,CR602744,CR603139,CR603230,CR619722,CR619900,CR620206,CR620617,CR620691,CR620713 NP_001060,CAD70628,EAW55124,BAG35507,AAN85571,AAH01194,AAH18780,AAI41925,AAI41926,CAG46756,CAA56071,Q13885,ABM83269,ABM86644 Hs.654543 TUBB|TUBB2|dJ40E16.7 tubulin beta-2A chain|tubulin, beta 2|tubulin, beta polypeptide 2 protein-coding 1602407 TUBB2B tubulin, beta 2B 19465910,19996274,19165527,18613117,15489334,14574404,12533264,12477932,9110174,8619474,6688039,16526095,10772929,17207965 347733 CR613666,CR613809,CR613847,CR614155,CR614280,CR614286,CR614345,CR614353,CR614634,CR614813,CR614882,CR616119,CR616638,CR616938,CR617121,CR617426,CR617732,CR617863,CR617967,CR618007,CR618188,CR618743,CR618789,CR618981,CR619349,CR619459,CR619901,CR619903,CR619904,CR619962,CR620844,CR620929,CR621114,CR621150,CR622354,CR622548,CR622864,CR623616,CR605836,CR605873,CR605874,CR605927,CR605990,CR606177,CR606682,CR606926,CR606984,CR607442,CR608223,CR608366,CR608367,CR608434,CR609010,CR609087,CR609249,CR609274,CR609729,CR609966,CR610170,CR610426,CR610542,CR611153,CR611377,CR611389,CR611686,CR611967,CR612034,CR612324,CR612517,CR612605,CR612639,CR613207,NG_016715,CH471087,CR596784,CR605791,CR624334,NM_178012,AL445309,CR591918,CR592053,CR592604,CR592873,CR593421,CR593508,CR593815,CR593818,CR593832,CR594252,CR594283,CR594462,CR594635,CR594802,CR594987,CR594990,CR595079,CR595489,CR595582,CR595718,CR595993,CR596135,CR596224,CR596723,CR596738,AF035316,AK289433,AK297568,AK308806,AL050056,BC001352,BC063610,BC127872,BG056085,BT019930,BX419454,CR456788,CR590037,CR590104,CR590240,CR590307,CR590416,CR590429,CR590652,CR590653,CR590676,CR591286,CR591366,CR591664,CR591809,CR591894,CR596990,CR597491,CR597723,CR597991,CR598348,CR599206,CR599667,CR599882,CR600540,CR600922,CR600959,CR601336,CR601911,CR602311,CR602345,CR602371,CR602536,CR602873,CR602908,CR603163,CR603523,CR604198,CR604466,CR604564,CR605068,CR605196,CR605374,CR605390,CR605424,CR605619,CR624485,CR625172,CR625173,CR625191,CR625238,CR625478,CR625504,CR625603,CR626232,CR626714,CR626726,CR626843,CR626852 NP_821080,CAI40952,EAW55125,EAW55126,EAW55127,EAW55128,AAB88188,BAF82122,BAH12617,CAB43252,AAH01352,AAH63610,AAI27873,AAV38733,CAG33069,O43209,Q9BVA1,Q9UGA2,ADQ32387 Hs.300701 DKFZp566F223|FLJ98847|MGC8685|RP11-506K6.1|TUBB-PARALOG|bA506K6.1 class II beta-tubulin isotype|tubulin beta-2B chain|tubulin, beta polypeptide paralog protein-coding 1601774 TUBB2C tubulin, beta 2C 16712791,19394292,20872967,17207965,11120798,16130169,18384219,17081983,16169070,15952740,15635413,15489334,14760703,14702039,14594945,12927047,12486001,12477932,12052866,12037579,11118478,10908577,3999141,3782288,2461292,16526095,15331610,15698476,15691386,11076968,12221128,12852856,16462731,17643375,19996274,7790358 10383 BC007889,BC008006,BC012835,BC019359,BC019829,BC024038,BC029529,BC039175,BC071889,BX648521,CB139156,BC004188,NM_006088,BX255925,CH471090,X02344,AK000560,AK021414,AK026167,AK026594,AK026609,AK098686,AY167990,BC001911,BC002783,BC002885,AK298087 AAH04188,AAH07889,AAH08006,AAH12835,AAH19359,AAH19829,AAH24038,AAH29529,AAH39175,AAH71889,P68371,Q8IWP6,NP_006079,CAM24148,EAW88368,EAW88369,EAW88370,CAA26203,BAG51031,AAN87335,AAH01911,AAH02783,AAH02885,ADQ31779,Q8IZ29,Q8N6N5,Q96HX0,BAG60373 Hs.433615 TUBB2 class IVb beta tubulin|tubulin beta-2 chain|tubulin beta-2C chain|tubulin, beta, 2 protein-coding 1347965 TUBB3 tubulin, beta 3 1580863 20587520,19405953,19122647,19074767,18977553,18946987,18645017,18497984,18435451,18379434,18178340,17714470,17543088,17406983,17289895,16816122,16675570,16344560,16061864,15671559,15489334,14702039,12905530,12789263,12486001,12477932,10908577,9473684,9373149,8619990,8125298,8098743,7789418,2461292,16526095,15331610,15698476,15691386,16169070,20403547,20393110,19360438,19690549,19724850,19828208,19899405,20021611,20074521,20087230,20220512,15203218,20406197,3459176 10381 CR605618,CR605687,CR605928,CR606534,CR607807,CR607915,CR608519,CR609278,CR609285,CR609372,CR609561,CR609873,CR609931,CR610428,CR610920,CR610945,CR611346,CR611692,CR612113,CR612703,CR613212,CR613333,CR613956,CR614150,CR614385,CR614638,CR614854,CR615484,CR615487,CR615754,CR615850,CR615967,CR616005,CR616091,CR616697,CR617597,CR617704,CR618148,CR618463,CR618719,CR619366,CR619439,CR620404,CR620633,CR621602,CR622595,CR622759,CR622839,CR623379,CH471184,AF427491,AK058140,AK122757,AK127418,AK223039,AK292219,AK307201,AK314616,AU142509,BC000748,BC001678,BC003021,BC047518,BC064975,BT006971,CD621827,CR590075,CR590351,CR590708,CR590783,CR591503,CR592025,CR592245,CR592535,CR592610,CR592791,CR593269,CR593464,CR594063,CR594431,CR594464,CR594636,CR595448,CR595964,CR596211,CR596446,CR596505,CR596786,CR597505,CR598025,CR598043,CR598551,CR599272,CR599992,CR600094,CR600096,CR600381,CR600906,CR601082,CR601754,CR601914,CR601978,CR603177,CR603504,CR603509,CR603741,CR603943,CR604020,CR604086,CR604211,CR604583,CR604723,CR604865,CR605022,CR605315,CR605372,AC092143,NM_006086,CR623384,CR623445,CR623719,CR624149,CR624252,CR624879,CR625137,CR625315,CR625316,CR625914,CR626587,S62643,U47634,DA054466,NM_001197181,NG_027810 EAW66669,EAW66675,AAL28094,BAG53710,BAD96759,BAF84908,BAG37182,AAH00748,AAH01678,AAH03021,AAH47518,AAP35617,NP_006077,AAC52035,Q13509,Q3ZCR3,Q53G92,Q7KZS6,Q9BV28,NP_001184110,EAW66674 Hs.511743 CFEOM3A|MC1R|TUBB4|beta-4 tubulin beta-3 chain|tubulin beta-4 chain|tubulin beta-III|tubulin, beta, 4 protein-coding 1348861 TUBB4 tubulin, beta 4 1580863 16565220,16303743,15489334,15324660,15188402,15121898,14702039,12840015,12486001,12477932,11120798,10908577,8619814,6865944,6462917,3782288,16526095,15331610,15698476,15691386,11076968,12221128,12852856,16462731,18553364,19299461,19773279,7790358 10382 NM_006087,AC010503,CH471139,CQ783906,X00734,AK075307,AK095202,BC006570,BC013683,AK293503,AK295917 NP_006078,EAW69078,EAW69079,CAF86918,CAA25318,BAG52106,AAH06570,AAH13683,P04350,ACE87336,ACE86654,BAG56988,BAG58705 Hs.110837 TUBB5|beta-5 tubulin 5 beta|tubulin beta-4 chain|tubulin, beta, 5 protein-coding 1344969 TUBB4Q tubulin, beta polypeptide 4, member Q 1580863 10828619,11731935,10512680,16526095 56604 NM_020040,AF146191,AF355124,CH471056,U83668,U83110 NP_064424,EAX04599,AAB48456,AAB41497,Q99867,AAI40319,AAI46476 Hs.351544 putative tubulin beta-4q chain protein-coding 1343714 TUBB6 tubulin, beta 6 737633 20191564,15489334,14702039,12477932,16526095,15331610,12486001,10908577 737633 84617 CR593665,CR593961,CR594370,CR595733,CR605380,CR607214,CR614714,CR616368,NM_032525,AP005264,CH471113,AK001295,AK022340,AK092677,AK098440,AK311364,BC002654,BC111374,AK298196,AK304616 Q2NKY5,Q9BUF5,ABM84412,ABM87393,NP_115914,EAX01553,EAX01554,BAG50888,BAB14016,BAG52593,AAH02654,AAI11375,BAG60466,BAG65398 Hs.528996,Hs.725915 HsT1601|MGC132410|MGC4083|TUBB-5 tubulin beta MGC4083|tubulin beta-6 chain protein-coding 1605531 TUBB8 tubulin, beta 8 12477932,10828619,16526095,12486001,10908577,11731935 347688 NM_177987,AF355127,AL713922,CH471072,BC101270,BC101271,CR590375,CR591556,CR592105,CR592383,CR592639,CR599052,CR600137,CR601851,CR603249,CR603378,CR605516,CR606225,CR612709,CR614889,CR621858,CR626121,NM_001164154 NP_817124,AAL32434,CAI16219,CAI16220,CAI16221,EAW86544,EAW86545,EAW86546,AAI01271,AAI01272,Q3ZCM7,Q5SQY1,AAI56320,AAI57067,NP_001157626 Hs.532659 FLJ40100|RP11-631M21.2 HSA10p15 beta-tubulin 4Q|OTTHUMP00000018932|OTTHUMP00000215934|OTTHUMP00000215935|tubulin beta-8 chain protein-coding 1343237 TUBBP1 tubulin, beta pseudogene 1 7070533 92755 NG_001206,AC109329,J00317,CR609471,CR610533,CR622562 Hs.720412 tubulin, beta polypeptide pseudogene 1 pseudo 1348067 TUBBP2 tubulin, beta pseudogene 2 1685473 647000 NG_011428,AL731858 pseudo 1349884 TUBBP3 tubulin, beta pseudogene 3 326106 NG_002529,AL445383 pseudo 1352539 TUBBP4 tubulin, beta polypeptide pseudogene 4 493816 1346990 TUBBP5 tubulin, beta pseudogene 5 11731935 643224 NR_027156,AF355123,AL591424,AK308459,CR591699,CR593643,CR594555,CR616909,CR625248 A6NKZ8 Hs.551805 tubulin, beta polypeptide pseudogene 5 pseudo 1323696 TUBD1 tubulin, delta 1 1580863 14702039,12477932,10620804,15489334,15081367,12047234,10753753,20508983,16344560,19913121,20628086 51174 NM_016261,AC004686,CH471109,AB030837,AB031044,AB031045,AF201333,AK022771,AK024096,AK024741,AK315172,BC000258,BG682935,AK298492,AK301312,BX119803,DA607129,NM_001193609,NM_001193610,NM_001193611,NM_001193612,NM_001193613 NP_057345,EAW94385,EAW94386,EAW94387,EAW94388,EAW94389,BAD16590,BAD83580,BAD83581,AAF09584,BAG51113,BAB14825,AAH00258,Q5KU36,Q5KU37,Q9UJT1,BAG60700,BAG62863,NP_001180538,NP_001180539,NP_001180540,NP_001180541,NP_001180542 Hs.463638 FLJ12709|TUBD delta-tubulin|tubulin delta chain protein-coding 1314442 TUBE1 tubulin, epsilon 1 This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5. 1580863 10620804,16344560,15489334,12510196,12477932,19851462,20508983 51175 NM_016262,CH471051,Z99289,AF201334,AK026242,AK126191,BC025405,BC031101,CA411886,CR609343,CR613971,DA160210 NP_057346,EAW48272,CAI42326,CAI42327,CAI42328,AAF09585,AAH25405,AAH31101,Q5H8W9,Q9UJT0,ABM82429,ABM85621 Hs.34851 FLJ22589|FLJ44203|TUBE|dJ142L7.2 epsilon-tubulin|tubulin epsilon chain protein-coding 732715 TUBG1 tubulin, gamma 1 This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq] 1626306,1580863 16714300,9789027,7592789,7490091,14767062,17891179,11003675,11163258,12639940,14594945,15280373,15367667,16481748,20224777,9566969,17286961,1904010,19299467,19215229,18621829,18316369,17406983,17102634,16464125,16344560,15917813,15489334,14603253,12477932,12221128,11950600,11942621,11840567,11790298,11691781,11237715,11082048,10903841,10840040,10191277,10444072,10562286,11076968,11956313,12852856,16043481,16462731,17350042,19509060,19543530,19648910,20056645,20508983,7790358,8838651 1626306 7283 CR609289,CR620017,CR623993,CR625410,CR626772,DB027894,DB028144,M61764,AC067852,AK313339,BC000619,BG167819,BT019931,CR407642,CR590773,CR592317,CR592407,CR597415,CR598475,CR599618,CR602961,CR603755,CR604046,CR604804,CR607198,NM_001070 AAA52620,P23258,ABM82851,ABM86036,NP_001061,BAG36143,AAH00619,AAV38734,CAG28570 Hs.279669 GCP-1|TUBG|TUBGCP1 gamma-1-tubulin|gamma-tubulin complex component 1|tubulin gamma-1 chain|tubulin, gamma polypeptide protein-coding 1349876 TUBG1P tubulin, gamma 1 pseudogene 10903841,9847074 442673 NG_009488,AC004985,CH236951 pseudo 1316944 TUBG2 tubulin, gamma 2 1580863 10903841,15489334,14702039,12477932,11237715,10840040,9566969,9373149,8125298,14767062,11956313,12221128,17337485,20508983,8838651 27175 NM_016437,AC067852,AF225971,AK022324,AK225134,BC009670,BC051890,BC052283,BC108739,CR602914,CR605839,CR611337,CR611393,CR615504,CR623455,CR623937,DC353745 NP_057521,AAF34188,BAB14012,AAH09670,AAH51890,AAI08740,Q9NRH3 Hs.708059 MGC131994 gamma-2-tubulin|tubulin gamma-2 chain protein-coding 1320019 TUBGCP2 tubulin, gamma complex associated protein 2 1580863 9566967,15592455,15489334,14759258,14702039,12477932,12221128,11694571,9373149,8125298,7566098,11956313,16980960,19299467,19615732,8838651 10844 NM_006659,AL360181,AL592071,CH471211,AA377890,AF042379,AK092113,AK096087,AK223586,AK297251,AK299564,AK314520,BC005011,BC010373,BC052368,BC093770,BC111957,BC143247,CK818507 NP_006650,CAH70275,EAW61327,EAW61328,AAC39728,BAG52483,BAG53209,BAD97306,BAG59730,BAG61507,AAH52368,AAH93770,AAI11958,AAI43248,Q53EQ3,Q86U96,Q9BSJ2 Hs.523370 GCP2|MGC138162|SPBC97|Spc97p GCP-2|OTTHUMP00000020808|gamma-ring complex protein 103 kDa|gamma-tubulin complex component 2|gamma-tubulin complex protein 2|h103p|hGCP2|hGrip103|hSpc97|spindle pole body protein Spc97 homolog protein-coding 1313927 TUBGCP3 tubulin, gamma complex associated protein 3 1580863 11956313,19299467,19615732,20379614,7876350,8838651,9138452,9566969,15489334,15057823,12477932,12221128,11694571,9566967,20858683 10426 NM_006322,AL139384,AL160033,CH471085,AF042378,AJ003061,AJ003062,AK314785,BC007763,BC013781,BC046634,BT009772,CR616288,L13800,L13801,AK302537 NP_006313,CAI16949,CAI16950,CAI14455,CAI14456,EAX09163,EAX09164,EAX09165,EAX09166,AAC39727,CAA05832,CAA05833,BAG37319,AAH07763,AAH13781,AAH46634,AAP88774,Q5T8L2,Q96CW5,ABM81998,ABM85181,BAG63809 Hs.224152,Hs.595145 GCP3|SPBC98|Spc98p GCP-3|gamma-ring complex protein 104 kDa|gamma-tubulin complex component 3|h104p|hGCP3|hGrip104|hSpc98|spindle pole body protein Spc98 homolog protein-coding 1603663 TUBGCP4 tubulin, gamma complex associated protein 4 10562286,16189514,15489334,14702039,12477932,11694571,11956313,12221128,20508983,8838651 27229 NM_014444,AC018924,CH471125,AJ249677,AK001639,AK026551,AK027703,AK127306,BC000966,BC009870,BC012801,CR625944 NP_055259,EAW92603,CAB62539,BAA91802,BAG51368,AAH00966,AAH09870,AAH12801,Q9BVR6,Q9UGJ1,ABM87016,ABW03851 Hs.584887 76P|FLJ14797|GCP4 GCP-4|gamma tubulin ring complex protein (76p gene)|gamma-ring complex protein 76 kDa|gamma-tubulin complex component 4|h76p|hGCP4|hGrip76 protein-coding 1312280 TUBGCP5 tubulin, gamma complex associated protein 5 1580863 11956313,12221128,8838651,11694571,18316369,16982806,15489334,15342556,14702039,14508708,12477932,11572484 114791 NM_052903,NM_001102610,AC116166,CH471258,AB067486,AF272884,AK023934,AK056416,AK289859,AK310897,BC039271,BC046182,BC071560,BP362649,CR595247 NP_443135,NP_001096080,EAW65556,BAB67792,AAK77662,BAF82548,AAH46182,AAH71560,Q96RT8,EAW65557 Hs.533898 GCP5|KIAA1899 GCP-5|gamma-tubulin complex component 5|gamma-tubulin complex component GCP5 protein-coding 1317114 TUBGCP6 tubulin, gamma complex associated protein 6 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq] 1580863 11694571,17182859,15489334,15302935,15146197,12477932,11258795,10591208,11956313,12221128,20205591,8838651 85378 NM_020461,AL022328,CH471138,AB051456,AF272887,AK000636,AL137665,AL832617,BC004127,BC023573,BC035709,BC042165,BC113849,BC114457,BC127614,BC144488,BC144489,BC150613,BC151209,CN333235,AK310419 NP_065194,EAW73507,EAW73508,EAW73509,EAW73510,BAB33339,AAK82968,AAH23573,AAH42165,AAI14458,AAI27615,AAI44489,AAI50614,AAI51210,Q1WWM1,Q96RT7 Hs.336431 GCP6 GCP-6|gamma-tubulin complex component 6 protein-coding 1313566 TUFM Tu translation elongation factor, mitochondrial This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq] 1580863 17207965,19759913,20877624,17353931,9332382,18063578,18753147,17160893,17033963,16632485,15952740,15635413,15489334,12665801,12577067,12477932,11790298,11741979,9545647,7828719,8547323,18029348,19524667,20935630 7284 NM_003321,NG_008964,AC133550,CH471267,BC001633,BC010041,CA420396,CR593603,CR608035,CR609861,CR615703,CR621980,L38995,S75463,X84694 ADQ32704,NP_003312,EAW51997,EAW51998,AAH01633,AAH10041,AAB00499,AAC60647,CAA59169,P49411 Hs.12084 COXPD4|EF-TuMT|EFTU|P43 EF-Tu|elongation factor Tu, mitochondrial protein-coding 1351371 TUFML Tu translation elongation factor, mitochondrial-like 9545647 645668 NG_006578,AC069061,Y11796 TUFML pseudo 1321243 TUFT1 tuftelin 1 1580863 12489194,11256614,18781068,16710414,16381901,15489336,15489334,14702039,12975309,12477932,11733143,11230166,11076863,11062985,10806191,9373149,8125298,7919663 7286 NM_020127,NM_001126337,AF254860,AL365436,CH471121,CQ782987,AF254260,AK026989,AK075001,AK223161,AK315414,AL136917,AY358610,BC002933,BC008301,AK298066,AK299263,AK299925 NP_064512,NP_001119809,AAF78914,CAI16591,CAI16592,EAW53429,EAW53430,EAW53431,EAW53432,EAW53433,CAF86208,AAF78913,BAB15615,BAC11346,BAD96881,BAG37804,CAB66851,AAQ88973,AAH02933,AAH08301,Q53FX0,Q6UWW7,Q9NNX1,CAL38134,ABM84116,ABM84609,ABM87804,BAH12717,BAH12982,BAH13174 Hs.489922 tuftelin protein-coding 1605999 TUG1 taurine upregulated 1 (non-protein coding) 15797018,15146197,14702039,12477932,8889548,8631027,16712791 55000 AB073661,AI186830,AK000625,AK000749,AK057695,BC037986,BM461799,BM719085,BM806212,BQ000368,BU540086,CB127883,CD556251,CN395940,CR594262,CR623819,AC004542,NR_002323 Hs.554829 FLJ20618|MGC46067|NCRNA00080|TI-227H miscrna 1322319 TULP1 tubby like protein 1 This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with retinitis pigmentosa. [provided by RefSeq] 1580863,1624352 17474147,9462750,18432314,17962469,17620573,17286855,15557452,15489334,15146197,12477932,11481257,10607826,10549638,10440267,9660588,9521870,9462751,20978472,9096357,7987322,1000483,20591486,16303976,19837063,20801516 1624352 7287 NM_003322,NG_009077,AF034923,AL033519,CH471081,BC032714,BC065261,CN355966,DQ426893,U82468 NP_003313,AAB97966,CAI20251,CAI20252,CAI20253,EAX03839,EAX03840,AAH32714,AAH65261,ABD90544,AAB53700,O00294,Q0QD38,Q5TGM7,Q5TGM8,ABZ92241 Hs.485208 RP14|TUBL1 Tubby related protein 1 (Tubby-like protein 1)|tubby-like protein 1|tubby-related protein 1 protein-coding 1321519 TULP2 tubby like protein 2 TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq] 1580863 12477932,10591637,9096357,16189514,14708010 7288 NM_003323,AC026803,CH471177,BC026070,DB442827,U82469 NP_003314,EAW52410,AAH26070,AAB53701,O00295,ABM81862 Hs.104636 CT65|TUBL2 cancer testis antigen 65|cancer/testis antigen 65|tubby-like protein 2|tubby-related protein 2 2289232 BW89_H protein-coding 1348382 TULP3 tubby like protein 3 This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 12477932,11801719,10509669,9828123,11375483,15489334,14702039,20634891 7289 NM_003324,NM_001160408,AC005911,CH471116,AF045583,AK024246,AK293285,AK307434,BC019618,BC032587,BP392987,CR598112 NP_003315,NP_001153880,EAW88876,EAW88877,EAW88878,AAC95431,BAG51279,BAH11483,AAH32587,O75386,ABZ92242 Hs.655333 MGC45295|TUBL3 tubby-like protein 3|tubby-related protein 3 protein-coding 4889392 TULP3P1 tubby like protein 3 pseudogene 1 100128017 AL353581,NG_011427 pseudo 1350994 TULP4 tubby like protein 4 1580863 17474147,11595174,8612280,18029348,14702039,12076535,10718198,12477932,20379614 56995 NM_020245,NM_001007466,AL353800,AL360169,CH471051,AB037818,AF219946,AF288480,AK092091,AK304056,BC152476,BE795693 NP_064630,NP_001007467,CAI20993,CAI20994,CAI16559,CAI16560,EAW47661,EAW47662,BAA92635,AAF87975,AAG01020,BAG64964,AAI52477,Q9NRJ4,AAI66702 Hs.486993 KIAA1397|RP3-442A17.1|TUSP tubby super-family protein|tubby superfamily protein|tubby-like protein 4|tubby-related protein 4 protein-coding 1606109 TUSC1 tumor suppressor candidate 1 This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq] 15208665,12477932,20574843,21116278 286319 NM_001004125,NG_012031,AL590322,CH471071,AY168647,BC017510,BC028316,BC036931,BC046919,BC110824,BM126697,BM126733 NP_001004125,EAW58580,AAO38227,AAH17510,AAH28316,AAH46919,AAI10825,Q2TAM9 Hs.26268,Hs.606014 MGC131751|TSG-9|TSG9 tumor suppressor candidate gene 1 protein protein-coding 1343391 TUSC2 tumor suppressor candidate 2 This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq] 632905,1580863 17353931,17486070,8780057,18172250,18077375,15489334,15126327,14702039,12477932,11593436,11085536,17545076,17207965,19671678,19852844 632905 11334 NM_007275,AC002455,CH471055,AF055479,AK124058,AK311998,BC023976,CR611235,CR612123,CR616581,CR625687 NP_009206,EAW65095,EAW65096,EAW65097,AAC35497,BAG34936,AAH23976,O75896,ADQ32616 Hs.517981 C3orf11|FUS1|PAP|PDAP2 PDGFA associated protein 2|PDGFA-associated protein 2|fus-1 protein|fusion 1 protein|tumor suppressor candidate 2 protein-coding 2947879 TUSC2P1 tumor suppressor candidate 2 pseudogene 1 12815422,9847074 359794 AC010977,NG_002812 TUSC2P pseudo 1606831 TUSC3 tumor suppressor candidate 3 This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 15835887,18455129,18452889,17641416,16270321,15489334,15231748,14718574,12477932,10097140,9778121,8661104,12887896,19717468 7991 CR608157,CR608785,CR609898,CR610179,CR611084,CR611813,CR614194,CR615904,CR615974,CR618029,CR619540,CR622631,CR622809,CR624122,CR626212,U42349,NM_178234,NG_012141,AC010656,AC019292,AC091559,AC100850,CH471080,U42359,U42360,AF028729,AK026149,AY562998,AY562999,BC010370,BT020002,CR593731,CR594411,CR599656,CR602882,CR603172,CR603479,CR603529,CR603603,CR603864,CR604611,CR606664,CR607966,NM_006765 AAB18374,Q13454,Q6Q319,Q6Q320,ABM83862,ABM87184,NP_006756,NP_839952,EAW63837,EAW63838,EAW63839,AAB18375,AAB18376,AAS75588,AAS75589,AAH10370,AAV38805 Hs.591845 D8S1992|M33|MGC13453|MRT7|N33|OST3A OTTHUMP00000120036|OTTHUMP00000220408|OTTHUMP00000220409|OTTHUMP00000220410|OTTHUMP00000220411|OTTHUMP00000220412|OTTHUMP00000220413|Putative prostate cancer tumor suppressor|oligosaccharyltransferase 3 homolog A|tumor suppressor candidate 3 protein-coding 1318978 TUSC4 tumor suppressor candidate 4 737633,1580863 20193080,20154027,17353931,19140316,18616680,17018626,16641997,15489334,15374952,14702039,12477932,11980673,11085536,19274676,19521502 737633 10641 NM_006545,AC002481,CH471055,AF040707,AF040708,AK098161,AK292196,AK309658,AL833426,BC008802,BC021984,BC050412,BC056861,BC063030,CR542035,CR604291,CR612107 NP_006536,AAB67310,EAW65106,EAW65107,EAW65108,EAW65109,EAW65110,EAW65111,EAW65112,AAC62535,AAC62536,BAF84885,AAH21984,AAH56861,CAG46832,Q8WTW4 Hs.437083 NPR2|NPR2L|NPRL2|TUSC4 2810446G01Rik|G21 protein|NPR2-like protein|gene 21 protein|homologous to yeast nitrogen permease (candidate tumor suppressor)|nitrogen permease regulator 2-like protein|tumor suppressor candidate 4 protein-coding 1316946 TUSC5 tumor suppressor candidate 5 1580863 17689857,12660825,12477932 286753 NM_172367,AC032044,CH471108,AB090231,AL831929,BC142615 NP_758955,EAW90630,BAC43751,AAI42616,Q8IXB3 Hs.146059 IFITMD3|LOST1 interferon induced transmembrane protein domain containing 3|interferon-induced transmembrane domain-containing protein D3|located at seventeen p thirteen point three 1|protein located at seventeen-p-thirteen point three 1|tumor suppressor candidate 5 protein-coding 1345565 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation. 737633 18305108,18288197,17872511,16790842,15489334,14702039,12603330,12477932,9628908,17643375,18172165,19615732,21102410 737633 64852 NM_022830,AP002990,CH471076,AK025920,AK026000,AK292610,BC005013,BC110910,BC128263,CA444886,CR593379,CR601843 NP_073741,EAW74029,BAB15282,BAB15314,BAF85299,AAH05013,AAI10911,AAI28264,Q8TER1,Q9H6E5 Hs.144835 FLJ21850|FLJ22267|FLJ22347|MGC131987|MGC149809|PAPD2|RBM21|STARPAP|TUTase OTTHUMP00000213076|OTTHUMP00000213078|PAP-associated domain-containing 2|RNA binding motif protein 21|RNA uridylyltransferase|RNA-binding motif protein 21|RNA-binding protein 21|U6 TUTase|U6 snRNA-specific terminal uridylyltransferase 1|U6-TUTase|nuclear speckle targeted phosphatidylinositol 4-phosphate 5-kinase type I-alpha regulated-poly(A) polymerase|nuclear speckle-targeted PIPK1A-regulated-poly(A) polymerase|poly(A) polymerase associated domain containing 2 protein-coding 1323555 TWF1 twinfilin, actin-binding protein, homolog 1 (Drosophila) This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq] 7507208,15188402,14702039,12807912,12477932,12429826,12207032,11870207,12775419,18029348,19423540,20406964,20438785,20571053 5756 NM_002822,AC093012,CH471111,AB209302,AK127868,AK291223,AK297206,BC022344,BC022491,BC043148,BC068548,BT019691,CR541736,CR541761,U02680 NP_002813,EAW57868,EAW57869,EAW57870,BAD92539,BAG54588,BAF83912,BAG59691,AAH43148,AAH68548,AAV38497,CAG46536,CAG46561,AAC50062,Q12792,ACE87470,ACE86784,AAH22344 Hs.189075 A6|MGC23788|MGC41876|PTK9 A6 protein tyrosine kinase|PTK9 protein tyrosine kinase 9|protein A6|protein tyrosine kinase 9|ptk9 protein tyrosine kinase 9|twinfilin-1 protein-coding 1353262 TWF1P1 twinfilin 1 pseudogene 1 619519 NG_005328,AC005412 A6ps1|PTK9P|PTK9P1 pseudo 1354447 TWF1P2 twinfilin 1 pseudogene 2 494555 NG_005114,AL356738 A6ps2|PTK9P2 pseudo 1312984 TWF2 twinfilin, actin-binding protein, homolog 2 (Drosophila) The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq] 10406962,17353931,17910947,15592455,15489334,12807912,12477932,11230166,16169070,19913121,20628086,19423540,20406964,20438785 11344 CR614000,NM_007284,AC006252,AC097637,CH471055,AF109365,AL136773,BC000327,BC003161,BC016452,BI551353,CR456732,CR533520,CR590947,CR591978,CR593060,CR596947,CR598314,CR599346,CR600187,CR601320,CR601397,CR602270,CR603095,CR606881,CR607625,CR608092,CR611569,CR613911,CR623204,CR623453,CR626408,Y17169 NP_009215,EAW65194,AAQ13513,CAB66707,AAH00327,AAH03161,AAH16452,CAG33013,CAG38551,CAB38055,Q6IBS0,ABM82680,ABM85862 Hs.436439 A6RP|A6r|FLJ56277|MSTP011|PTK9L A6-related protein|OTTHUMP00000221144|PTK9L protein tyrosine kinase 9-like (A6-related protein)|hA6RP|protein tyrosine kinase 9-like (A6-related protein)|ptk9l protein tyrosine kinase 9-like (a6-related protein)|twinfilin-1-like protein|twinfilin-2 protein-coding 1349130 TWIST1 twist homolog 1 (Drosophila) Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq] 1624353,1580863 10025406,18598946,8988166,19597909,19534813,19513566,19470737,19453261,19412634,19381684,19345188,19276370,19094228,19064546,19051271,18974133,18663125,18549475,18519689,18480983,18440840,18391499,18353781,18349132,18297062,18255367,18172301,18062917,17987801,17967182,17925286,17893140,17886095,17785550,17690110,17512904,17487558,17414280,17403902,17394502,17343269,17332325,17332324,17236203,17157810,17070479,17003487,16888803,16831897,16737925,16540516,16502419,16412561,16322226,16293629,16229805,15958559,15900593,15880747,15735646,15607966,15555546,18504427,20400975,20400976,20818389,20838384,20920982,20970163,15489334,15313894,15210113,14724576,14513358,12853948,12791045,12690205,12553906,12477932,12270142,12218784,12142027,12015302,11977182,11948912,11854168,11754069,11748846,11474656,11062344,10749989,10485844,10465122,9934984,9343420,9259286,9215678,9073070,8995765,8988167,8968762,7987323,7296937,1433226,15545268,20496080,20628624,20634891,19860490,20696219,19373776,19609939,19644484,19802001,19816777,19821482,19851501,19893041,20007935,20019840,20025748,20140954,19863427,20804746,20562331,20564230,18231738,20643727,20646316 1624353 7291 NM_000474,NG_008114,AC003986,CH236948,CH471073,U80998,X91662,Y10871,AW173505,BC036704,CR595340,CR619156,X99268,Y11177,Y11178 NP_000465,AAC60381,EAL24279,EAW93711,AAC50930,CAA62850,CAA71821,AAH36704,CAA67664,Q15672,ABM87769 Hs.66744,Hs.644998 ACS3|BPES2|BPES3|CRS1|SCS|TWIST|bHLHa38 B-HLH DNA binding protein|H-twist|OTTHUMP00000201810|OTTHUMP00000201811|TWIST homolog of drosophila|class A basic helix-loop-helix protein 38|twist-related protein 1 protein-coding 735468 TWIST2 twist homolog 2 (Drosophila) Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Twist. It is thought that during osteoblast development this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. [provided by RefSeq] 1580863 20691403,10524757,9061034,7589808,11809751,18598946,11062344,19453261,17487558,15809452,15735646,15489334,14654692,12477932,19644484,19937140 117581 BU615717,NM_057179,AC142117,AC145625,CH471063,AW072674,BC017907,BC033168,BC103755,AC149644 NP_476527,EAW71163,EAW71164,AAH17907,AAH33168,AAI03756,Q8WVJ9,ABM83732,ABM87052 Hs.422585,Hs.727881 DERMO1|MGC117334|bHLHa39 class A basic helix-loop-helix protein 39|dermis-expressed protein 1|dermo-1 protein|twist-related bHLH protein Dermo1|twist-related protein 2 protein-coding 1317243 TWISTNB TWIST neighbor 14702039,12690205,12477932,12438708,12393749,18029348,19615732 221830 NM_001002926,AC004940,BK000492,CH236948,CH471073,AK090846,AK301329,BC013179,BC014574,BC056267,BC070358,BC130298,BC130300 NP_001002926,DAA05732,EAL24277,EAW93714,BAH13460,AAH14574,AAI30299,AAI30301,Q3B726,ADR83135 Hs.353035 DNA-directed RNA polymerase I subunit RPA43|twist neighbor protein protein-coding 1322557 TWSG1 twisted gastrulation homolog 1 (Drosophila) 1580863 16344560,16303743,14702039,14681194,12477932,12119341,11420619,11260715,10866189,19414861,17164348,15775969,17207965 57045 AP001033,CH471113,AF196834,AF294628,AI742025,AJ297391,AK027629,AK075550,AK315751,BC020490,BU632669,CR608086,DA735800,NM_020648 NP_065699,EAX01606,EAX01607,AAG43468,AAG10076,CAC05581,BAB55246,BAC11693,BAG38105,AAH20490,Q9GZX9,ADQ31585 Hs.514685 TSG twisted gastrulation protein homolog 1 protein-coding 1315122 TXK TXK tyrosine kinase 1580863 7951233,16809408,16344560,15175272,12477932,12081135,11859127,11353545,10660534,10587356,9813138,9047237,8702662,8632917,7528718,20800603,19913121,20628086,14684750,18941202,20379614 7294 AC079118,AC096749,CH471069,U07791,U07792,U34379,AK300141,AK307055,BC017829,DB103575,L27071,NM_003328 NP_003319,EAW93051,EAW93052,EAW93053,AAA19597,AAA19598,AAB60412,BAG61927,AAA74557,P42681,Q6LD13,Q6LD14,AAI66632 Hs.479669 BTKL|MGC22473|PSCTK5|PTK4|RLK|TKL PTK4 protein tyrosine kinase 4|protein-tyrosine kinase 4|tyrosine kinase|tyrosine-protein kinase TXK protein-coding 1603882 TXLNA taxilin alpha 8327514,17353931,11256614,19038581,18645499,17015757,16710414,16381901,15489336,15489334,15184072,14743216,14702039,14623251,12558796,12477932,11230166,11076863,9110174,8755619,8619474,19663695 200081 NM_175852,AL049795,CH471059,AF070546,AF516206,AK096161,AK096939,AL713662,AL832338,AL832636,AL832637,BC029686,BC046565,BC065263,BC080578,BC103823,BC103824,BC103825 NP_787048,CAI22055,EAX07565,EAX07566,AAO42465,CAH10633,CAD91138,CAD89951,CAD89952,AAH29686,AAH46565,AAH80578,AAI03824,AAI03825,AAI03826,A0AUK0,P40222,Q69YT3,CAL38463 Hs.17987 DKFZp451J0118|IL14|MGC118870|MGC118871|RP4-622L5.4|TXLN OTTHUMP00000004650|alpha-taxilin|interleukin 14 protein-coding 1317484 TXLNB taxilin beta 11256614,16381901,15489336,15489334,15184072,15082161,14702039,14574404,12477932,12372618,11230166,11076863,20379614 167838 BC115384,BX647477,BC115383,BX647633,NM_153235,AL158850,AL592434,CH471051,AB085905,AF111704,AK056970,AK314725,AL831988,AL832322,AL834248 AAI15385,AAI15384,CAI45977,CAI45978,Q5HYH7,Q5HYK6,Q8N3L3,CAL37662,CAL38285,CAL38724,NP_694967,CAI42896,CAI42897,CAH73884,EAW47896,EAW47897,EAW47898,EAW47899,BAC92688,AAM12420,BAG37268,CAD91140,CAD38617,CAD38924 Hs.535820 C6orf198|DKFZp451A175|LST001|MDP77|RP3-522B19.2|dJ522B19.2 beta-taxilin|chromosome 6 open reading frame 198|hMDP77|muscle-derived protein 77 protein-coding 732441 TXN thioredoxin Thioredoxin is a 12-kD oxidoreductase enzyme containing a dithiol-disulfide active site. It is ubiquitous and found in many organisms from plants and bacteria to mammals. Multiple in vitro substrates for thioredoxin have been identified, including ribonuclease, choriogonadotropins, coagulation factors, glucocorticoid receptor, and insulin. Reduction of insulin is classically used as an activity test.[supplied by OMIM] 2306159,2306156,2306193,2306153,1580782,1580783,1580784,1580785,1580786,1580863 20423474,10814541,15480426,10947064,3170595,11517226,16750198,19337991,19135121,19124506,19120277,18983687,18977241,18976655,18848838,18579387,18544525,18497292,18457020,18384140,18209488,17982132,17972886,17949784,17917077,17896802,17823364,17724081,17652454,17651689,17634480,17606900,17601350,17574940,17557078,17369362,17360766,17316609,17220299,17115890,17113580,17045827,17007870,16966583,16916647,16868544,16766796,16712525,16492688,16424062,16311508,16263712,16207716,16115022,16097034,15894171,15723974,15694802,15507528,15494431,15489334,15128745,15096327,14730345,14703116,14695120,14688353,14644168,14503974,12882768,12878985,12870673,12816947,12804587,12660821,12529245,12477932,12244325,12189205,12119401,12099690,12089063,12029072,12008049,11972307,11841832,11778846,11751890,11118054,11012661,10982790,10585464,10419473,10397171,9915858,9564042,9464857,9433926,9369469,8805557,8736558,8049254,7922028,7821789,7788295,7601465,2785919,2684271,2176490,2001356,1998498,1874447,16507315,11323689,11298454,11689443,17353931,15824742,12244106,15234975,20347035,20430109,20172870,20877624,20298786,19913121,20485444,20536427,20619274,20628086,20847814,16458196,18420212,18835792,19208085,19328186,19385090,19540723,19566940,19592618,19601712,19620238,19671194,19681600,19690162,19723146,19773351,19799607,20074557,20103619,20379614,9108029 2306159,2306156,2306193,2306153,1580782,1580783,1580784,1580785,1580786 7295 NM_003329,AF548001,AL158158,CH471105,X54539,AF085844,AF276919,AF313911,AK289508,AY004872,BC003377,BC054866,BX647247,CR407665,CR602033,D28376,J04026,X77584 NP_003320,AAN33187,CAI14066,CAI14067,EAW59059,EAW59060,CAA38410,AAF86466,AAG34699,BAF82197,AAF87085,AAH03377,AAH54866,CAG28593,BAA05742,AAA74596,CAA54687,P10599 Hs.435136 DKFZp686B1993|MGC61975|TRX|TRX1 ADF|ATL-derived factor|SASP|surface-associated sulphydryl protein|thioredoxin protein-coding 737462 TXN2 thioredoxin 2 This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq] 70610,2306159,2306161,2306153,1580863 17939155,17634480,17601350,17548047,17220299,16868544,16424062,15489334,15461802,12477932,12080052,12032145,10591208,20819778,20877624,20929858,18029348,19165900,19135121,19124506,18977241,18497292,19570036,19885567 70610,2306159,2306161,2306153 25828 NM_012473,AL022313,CH471095,AF276920,AF480262,AK130187,AK301837,BC013726,BC050610,CR456601,CR541896,CR541917,CR593318,CR617907,U78678 NP_036605,CAQ06700,EAW60103,EAW60104,AAF86467,AAN05576,BAG63281,AAH13726,AAH50610,CAG30487,CAG46694,CAG46715,AAB41631,Q99757,CAK54632,CAK54931,ABM82505,ABM85698,ABM85970 Hs.211929 MT-TRX|MTRX|TRX2 mitochondrial thioredoxin|thioredoxin, mitochondrial|thioredoxin-2 protein-coding 1348266 TXNDC11 thioredoxin domain containing 11 15561711,15489334,14702039,12477932,9110174,8619474,16189514,16713569 51061 NM_015914,AC007613,CH471112,AF131780,AK027464,AK027646,AK297094,BC002856,BC013727,BC018635,BX648407,CR457152 NP_056998,EAW85142,EAW85143,EAW85144,EAW85145,AAD20043,BAB55129,BAB55262,BAG59607,AAH02856,AAH13727,AAH18635,CAG33433,Q6PKC3 Hs.313847 EFP1 EF-hand binding protein 1|EF-hand-binding protein 1|thioredoxin domain-containing protein 11 protein-coding 1606291 TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum) TXNDC12 belongs to the thioredoxin superfamily (see TXN; MIM 187700). Members of this superfamily possess a thioredoxin fold with a consensus active-site sequence (CxxC) and have roles in redox regulation, defense against oxidative stress, refolding of disulfide-containing proteins, and regulation of transcription factors (Liu et al., 2003 [PubMed 14557066]).[supplied by OMIM] 17207965,19361226,18628206,16710414,16303743,15489334,15340161,14702039,14557066,12975309,12761212,12477932,9110174,8619474,19887585 51060 NM_015913,AL445685,CH471059,CS051213,AF131758,AF543416,AK056169,AK075409,AY358982,BC001493,BC008913,BC008953,CR592480,CR593611,CR611104,CR612587,CR622088 ADQ33144,NP_056997,CAI17031,EAX06800,CAI72102,AAD20035,AAN34781,BAG52132,AAQ89341,AAH01493,AAH08913,AAH08953,O95881 Hs.476033 AG1|AGR1|ERP18|ERP19|PDIA16|TLP19|hAG-1 ER protein 18|ER protein 19|anterior gradient homolog 1|endoplasmic reticulum protein ERp19|endoplasmic reticulum resident protein 18|endoplasmic reticulum resident protein 19|endoplasmic reticulum thioredoxin superfamily member, 18 kDa|hTLP19|protein disulfide isomerase family A, member 16|thioredoxin domain-containing protein 12|thioredoxin-like protein p19 protein-coding 1312290 TXNDC15 thioredoxin domain containing 15 9373149,8125298,12477932,18391951,14702039,12975309,12754519 79770 NM_024715,AC006077,CH471062,AK026278,AK056512,AK092425,AK225454,AK225462,AK299578,AK307529,AY358649,BC001615,BC032568,BX538131,CR601239,CR613338,CR613370,CR616649 NP_078991,EAW62231,EAW62232,EAW62233,BAB15427,BAB71199,BAG61514,AAQ89012,AAH01615,AAH32568,CAD98032,Q7Z345,Q96J42,ACE87684,ACE86995 Hs.594478 C5orf14|FLJ22625|UNQ335 2310047H23Rik|OTTHUMP00000223117|disulfide isomerase|thioredoxin domain-containing protein 15 protein-coding 1315553 TXNDC16 thioredoxin domain containing 16 1580863 18029348,16344560,14702039,12477932,10718198 57544 NM_020784,NM_001160047,AL157971,CH471078,AB037765,AK022563,AK097748,BC137081,BC137082,BC142650,BC144469,BC150205,BC152428,DA231411,DB083799 NP_065835,NP_001153519,EAW65650,EAW65651,BAA92582,BAB14101,AAI37082,AAI37083,AAI42651,AAI44470,AAI50206,AAI52429,Q9P2K2 Hs.532609 KIAA1344 thioredoxin domain-containing protein 16 protein-coding 1318890 TXNDC17 thioredoxin domain containing 17 1580863 15355959,14607844,18579519,15489334,14607843,12477932 84817 NM_032731,AC004706,CH471108,AF086210,AJ344101,AK291963,AK311853,BC006405,BC050406,CA431010,CR599070 NP_116120,EAW90302,CAC51435,BAF84652,AAH06405,Q9BRA2 Hs.408236 MGC14353|TRP14|TXNL5 14 kDa thioredoxin-related protein|protein 42-9-9|thioredoxin (Trx)-related protein, 14 kDa|thioredoxin domain-containing protein 17|thioredoxin-like 5|thioredoxin-like protein 5 protein-coding 1352753 TXNDC2 thioredoxin domain containing 2 (spermatozoa) 16344560,15489334,14702039,12477932,12387870,11737268,11230166,11399755 84203 DB032859,NM_001098529,NM_032243,AC006238,CH471113,AF080095,AK097656,AK303045,AL136742,BC050132,BI463874,BI831969,BM554364,DB037693,EF560747,HC007372 NP_001091999,NP_115619,EAX01593,EAX01594,AAK94950,BAC05133,BAG64165,CAB66676,AAH50132,ABQ59057,Q86VQ3,ACE87643,ACE86952,CBH19491 Hs.98712 DKFZp434H0311|MGC35026|SPTRX|SPTRX1 sperm-specific thioredoxin 1|spermatid-specific thioredoxin-1|sptrx-1|thioredoxin domain-containing 2 (spermatozoa)|thioredoxin domain-containing protein 2 protein-coding 1344206 TXNDC3 thioredoxin domain containing 3 (spermatozoa) TXNDC3 encodes a group II thioredoxin protein, composed of a thioredoxin domain and 3 NDP kinase domains, with testis-specific expression.[supplied by OMIM] 1580863 11768308,11737268,18471322,17360648,17304710,16642435,15489334,12477932,18029348,11574167,19852809,20237151,20379614 51314 NM_016616,AC018634,CH236951,CH471073,AF202051,AF305596,AK313599,BC036816,NG_015893 NP_057700,EAW94083,EAW94084,AAF20909,AAN04258,BAG36365,AAH36816,Q8N427 Hs.723454 CILD6|NME8|SPTRX2 NM23-H8|OTTHUMP00000207133|sperm-specific thioredoxin 2|spermatid-specific thioredoxin-2|sptrx-2|thioredoxin domain-containing protein 3 protein-coding 1313292 TXNDC5 thioredoxin domain containing 5 (endoplasmic reticulum) This gene encodes a protein-disulfide isomerase. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 16130169,19367581,17895523,16574106,15489334,14702039,14574404,12975309,12963716,12930873,12878160,12477932,20157732,11031247,11252894,19694819,19834535,19887585,19906073,20074551 81567 NM_030810,NM_001145549,AL133541,CH471087,AJ440721,AK025006,AK075291,AK098089,AK315598,AL833008,AL834423,AY326464,AY358646,BC001199,BC003529,BU855393,CR592427,CR593245,CR606756,CR612583,BF726049 BAC11526,NP_110437,NP_001139021,CAI19473,EAW55220,EAW55221,EAW55222,CAD29430,BAG37969,CAH56286,CAD39084,AAR99514,AAQ89009,AAH01199,Q658S9,Q6EHZ3,Q8NBS9 Hs.150837 ENDOPDI|ERP46|EndoPDI|HCC-2|Hcc-2|MGC3178|PDIA15|STRF8|UNQ364 ER protein 46|OTTHUMP00000016005|OTTHUMP00000212222|endoplasmic reticulum protein ERp46|endoplasmic reticulum resident protein 46|endothelial protein disulphide isomerase|protein disulfide isomerase family A, member 15|thioredoxin domain-containing protein 5|thioredoxin related protein|thioredoxin-like protein p46 protein-coding 1351445 TXNDC6 thioredoxin domain containing 6 1580863 19852809,18753468,14713334,14702039,12569107,12477932,21116278 347736 NM_178130,AC022337,AC068777,CH471052,AF196568,AK094830,AY336746,BC107054 NP_835231,EAW79073,EAW79074,AAG28497,BAC04430,AAQ16116,AAI07055,Q3KNW3,Q86XW9 Hs.660992 MGC129586|NME9|TXL-2|TXL2 OTTHUMP00000216650|OTTHUMP00000216653|OTTHUMP00000216913|thioredoxin domain-containing protein 6|thioredoxin-like 2|thioredoxin-like protein 2 protein-coding 1345541 TXNDC8 thioredoxin domain containing 8 (spermatozoa) 1303999 15181017,15164053,12477932 1303999 255220 NM_001003936,AL158158,CH471105,AF305830,BC035743,BC130549,BC130551,BC144461 NP_001003936,CAI14069,CAI14070,EAW59061,AAQ14501,AAI30550,AAI30552,AAI44462,Q6A555,ADR83471 Hs.147064 SPTRX-3|TRX6|bA427L11.2 OTTHUMP00000215886|sperm-specific thioredoxin 3|spermatid-specific thioredoxin-3|spermatocyte/spermatid-specific thioredoxin-3|thioredoxin 6|thioredoxin domain-containing protein 8|thioredoxin-6 protein-coding 1352767 TXNDC9 thioredoxin domain containing 9 The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq] 737633 9373149,8125298,16169070,16415341,15815621,15489334,15009089,12477932 737633 10190 NM_005783,AC079447,CH471127,AB006679,AB451403,AK222616,AK301722,AK313777,BC005968,BC022864,BC024223,BC070183,BG772935,BM553565,CR456935,CR601039,CR602941,CR615367,CR622624 NP_005774,AAX93257,EAX01868,EAX01869,EAX01870,EAX01871,BAA21881,BAG70217,BAD96336,BAH13540,BAG36515,AAH05968,AAH22864,AAH24223,AAH70183,CAG33216,O14530,Q8TB70 Hs.536122 APACD|PHLP3 ATP binding protein associated with cell differentiation|ATP-binding protein associated with cell differentiation|OTTHUMP00000203480|OTTHUMP00000203481|protein 1-4|thioredoxin domain-containing protein 9 protein-coding 1343574 TXNIP thioredoxin interacting protein 1580789,1642749,1642760,1642758,1642750,1642753,1642756,2306193 19913121,20628086,15136067,15128745,14766217,12821938,12477932,12386145,12189205,12054598,11753387,11376942,10419473,9207062,8086474,20398702,20826751,20680488,20656682,15231748,14632196,19327827,19254690,19246513,19214472,19052253,19018770,18974842,18848838,18793170,18541147,18458340,18376310,18301748,18202760,17675577,17671698,17603038,17579352,17555594,17472435,17381501,16766796,16723126,16710414,16344560,16301999,15705778,15696199,15537450,15489334,15234975,10814541,18835792,19605364,19619006,19773351,19808645,19847012,20027290,20068034,20584310,20558747,20172870 1580789,1642749,1642760,1642758,1642750,1642753,1642756,2306193 10628 NM_006472,AB051901,AF333001,AL138842,AL160282,CH471244,AK226090,AK301148,AK301203,AK304670,AY594328,BC024305,BC093702,BC093704,BF446648,BX404012,BX537824,CR593638,CR598379,CR608500,CR609336,CR612183,CR613859,CR614030,CR624503,CR625339,DB058019,S73591 NP_006463,BAB18859,AAK37514,CAI22351,EAW71410,EAW71411,BAG62739,BAG62780,BAG65445,AAT01927,AAH93702,AAH93704,AAB31977,Q9H3M7 Hs.533977 EST01027|HHCPA78|THIF|VDUP1 OTTHUMP00000015597|thioredoxin binding protein 2|thioredoxin-binding protein 2|thioredoxin-interacting protein|upregulated by 1,25-dihydroxyvitamin D-3|vitamin D3 up-regulated protein 1 protein-coding 1354026 TXNL1 thioredoxin-like 1 1302267,1580863 20455272,9668102,19349280,19349277,17987124,16438969,16344560,16236267,16231315,15489334,14702039,12665801,12477932,11985582,10826702,9473519,16385451,18029348,19615732 1302267 9352 NM_004786,NR_024546,AC007052,AF143897,CH471096,AB209263,AF003938,AF051896,AF052659,AK094926,AK313653,AV750604,BC001156,CR615108,DA248363 NP_004777,AAF66676,EAW63034,EAW63035,EAW63036,BAD92500,AAC39599,AAC05830,AAC39898,BAG52957,BAG36407,AAH01156,O43396,Q59G46,ABM82772,ABM85960,ABW03441 Hs.114412 TRP32|TXL-1|TXNL|Txl 32 kDa thioredoxin-related protein|thioredoxin-like protein 1|thioredoxin-related 32 kDa protein|thioredoxin-related protein 1 protein-coding 4891982 TXNL1P1 thioredoxin-like 1 pseudogene 1 100419095 AL390731,NG_024942 pseudo 1342505 TXNL3 thioredoxin-like 3 414229 1347193 TXNL4A thioredoxin-like 4A 737633 12226669,18559850,19615732,10610776,17177886,16189514,15840814,15489334,12911302,12477932,11054566,11015569,20307692 737633 10907 NM_006701,AC090360,CH471117,AF023611,AF023612,AF146373,AK309098,AK314901,BC001046,BC019272,CR621222,CR625676 NP_006692,EAW66639,EAW66640,EAW66641,AAB81950,AAB81951,AAF17332,BAG37415,AAH01046,AAH19272,O14835,P83876 Hs.465498 DIB1|DIM1|HsT161|TXNL4|U5-15kD DIM1 protein homolog|spliceosomal U5 snRNP-specific 15 kDa protein|thioredoxin-like 4|thioredoxin-like U5 snRNP protein U5-15kD|thioredoxin-like protein 4A protein-coding 1344635 TXNL4B thioredoxin-like 4B 737633,1580863 16511018,16344560,16142897,15489334,15342556,15163659,15161931,14702039,12477932,11015569,9373149,8125298,17207965 737633 54957 HC309810,NM_001142318,NM_001142317,NM_017853,AC009087,CH471166,AK000518,AK222889,AK308891,AY566808,BC009646,BP355646,CD517462,CR457240,CR617379,DA499499 CBJ21212,NP_001135790,NP_001135789,NP_060323,EAW59191,EAW59192,BAA91224,BAD96609,AAS68520,AAH09646,CAG33521,Q53GP2,Q9NX01,ADQ32780 Hs.134406 DLP|Dim2|FLJ20511 Dim1-like protein|thioredoxin-like protein 4B protein-coding 732119 TXNRD1 thioredoxin reductase 1 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein reduces thioredoxins as well as other substrates, and plays a role in selenium metabolism and protection against oxidative stress. The functional enzyme is thought to be a homodimer which uses FAD as a cofactor. Each subunit contains a selenocysteine (Sec) residue which is required for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenocysteine-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in several transcript variants encoding the same or different isoforms. [provided by RefSeq] 1580529,2306153 20536427,18029348,20877624,16750198,9671710,8921404,19124506,19059456,19020731,18996185,18977241,18835810,18483336,18382651,18267104,18187038,18163424,18042542,17634480,17601350,17512005,17382897,16977661,16868544,16481328,16424062,15879598,15824742,15592455,15489334,15199063,15183196,15123685,14980707,14676218,14607844,13679440,12968334,12949356,12668662,12574159,12477932,12435734,12214272,11953436,11782468,11737861,11410332,11375392,10786696,10432307,9774665,9207062,9177183,8999974,8650234,8577704,8554614,7589432,2064786,10383413,16169070,20920480,19555664,19595745,19620238,19654027,19766715,19820694,19896490,20160040,20584310 1580529,2306153 7296 NM_003330,NM_182742,NM_182729,NM_182743,AC089983,AC090107,CH471054,DQ157758,AF077367,AF208018,AJ001050,AK128515,AK129977,AK226071,NM_001093771,AK293322,AK295067,AK296495,AK304241,AK308881,AK312262,AL701549,AY057105,AY344074,AY344081,AY344083,AY344084,AY344086,AY344087,AY344089,AY344092,AY344093,AY344095,AY344096,AY344670,AY344673,AY344675,AY344679,BC018122,BC042974,BG772375,BT019640,CR536506,CR594686,D88687,S79851,X91247 NP_001087240,NP_003321,NP_877419,NP_877393,NP_877420,EAW97743,EAW97744,EAW97745,AAZ67916,AAC69621,AAF15900,CAA04503,BAC87474,BAH11490,BAH11961,BAH12374,BAH14140,BAG35193,AAL15432,AAQ62461,AAQ62462,AAQ62463,AAQ62464,AAQ62465,AAQ62466,AAQ62467,AAQ62468,AAQ62469,AAQ62470,AAQ62471,AAQ62472,AAQ62473,AAH18122,AAV38446,CAG38744,BAA13674,AAB35418,CAA62629,Q16881,Q6ZR44 Hs.654922 GRIM-12|MGC9145|TR|TR1|TRXR1|TXNR KM-102-derived reductase-like factor|gene associated with retinoic and IFN-induced mortality 12 protein|gene associated with retinoic and interferon-induced mortality 12 protein|oxidoreductase|thioredoxin reductase 1, cytoplasmic|thioredoxin reductase GRIM-12|thioredoxin reductase TR1 protein-coding 1606823 TXNRD2 thioredoxin reductase 2 Thioredoxin reductase (TR) is a dimeric NADPH-dependent FAD containing enzyme that catalyzes the reduction of the active site disulfide of thioredoxin and other substrates. TR is a member of a family of pyridine nucleotide-disulfide oxidoreductases and is a key enzyme in the regulation of the intracellular redox environment. Three thioredoxin reductase genes have been found that encode selenocysteine containing proteins. This gene partially overlaps the COMT gene on chromosome 22. [provided by RefSeq] 2306153 19913121,20602615,20628086,10455115,10215850,19124506,19035188,18996102,18977241,17634480,17601350,17395017,16868544,16774913,16424062,16298692,15489334,14702039,12705894,12530083,12477932,12374691,11060283,11012661,10608886,10591208,9923614,11158331,12612084,11463857,15694360,15598662,18029348,19595745,19617637,19692168,19896490,20178852,20378690,18978041,20877624,20965815 2306153 10587 NG_011835,AC000078,AC000090,AB019694,AB019695,AB209724,AF044212,AF106697,AF166126,AF166127,AF171054,AF201385,AK094698,AK097708,BC007489,BC032029,BC038708,BC099923,BC117354,BX957216,CR590262,CR590304,NM_006440,CR591901,CR593863,CR594969,CR601782,CR602507,CR603526,CR608079,CR749428 NP_006431,BAA77601,BAA77602,BAD92961,AAD25167,AAD19597,AAF21431,AAF21432,AAD51324,AAG47635,BAG53517,AAH07489,AAH99923,AAI17355,CAF29507,CAH18266,Q17RE6,Q59ET7,Q6M1B7,Q9NNW7 Hs.443430 SELZ|TR|TR-BETA|TR3|TRXR2 OTTHUMP00000195708|selenoprotein Z|thioredoxin reductase 2, mitochondrial|thioredoxin reductase 3|thioredoxin reductase TR3|thioredoxin reductase beta protein-coding 1318088 TXNRD3 thioredoxin reductase 3 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq] 1580863 10455115,18977241,17601350,12477932,11259642,12775843,20018845 114112 AC024558,AC078867,AF133519,AF171055,AK299502,BC030028,BC050032,BQ929894,NM_001173513,NM_052883 AAD39929,AAD51325,BAG61457,AAH30028,AAH50032,Q86VQ6,NP_001166984,NP_443115 Hs.477475 TGR|TR2|TRXR3 thioredoxin and glutathione reductase|thioredoxin glutathione reductase|thioredoxin reductase 2|thioredoxin reductase 3|thioredoxin reductase TR2 protein-coding 2796714 TXNRD3IT1 thioredoxin reductase 3 intronic transcript 1 12477932,15588584,15674732 645840 AB113648,AC024558,BC130546,BC130548,NM_001039783 ADR82822,AAI30547,AAI30549,BAD26752,NP_001034872,Q6F5E7 Hs.477475 MGC163418|MGC163420|TR2IT1|TXNRD3NT1 thioredoxin reductase 2 intronic transcript 1|thioredoxin reductase 3 intronic transcript 1|thioredoxin reductase 3 new transcript 1 protein-coding 1316192 TYK2 tyrosine kinase 2 This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq] 1357935,1580863,1625126,1357942 20588308,20628624,20727854,15337770,21102463,7510216,20478313,20953190,10502458,2216457,18029348,19434718,19293837,19258923,19249008,18474601,18456658,18270328,17937105,17920038,17877826,17703412,17599733,17548050,17384181,17011030,16551269,16344560,16239216,15944400,15883164,15657875,15489334,14500680,12960323,12719789,12554654,12477932,11430697,11399767,10995743,10933219,10899310,10673353,10542297,10531356,10409622,9822675,9733772,9633884,9519782,9388212,9374471,9373149,9342324,9305869,9196040,9108397,8780698,8702790,8550573,8432525,8125298,7629131,7589562,7579387,7526154,2247464,2156206,1386289,11694501,10954736,9417082,15277531,9038232,10918587,11201744,11294897,11839738,12637327,12817007,15322115,17290288,19254804,19423540,19440814,19464057,19525955,19567624,19653082,19717292,19730683,19758313,19865102,19888296,19966805,20065083,20197570,20406964,20438785,20503287,7543024,7657660,7690989,8605877,8657151,9484840,9974409 1357935,1625126,1357942 7297 NM_003331,NG_007872,AC011557,AY549314,CH471106,AK222672,AK303627,AK308360,AK308379,BC014243,CR995139,DA864169,X54637 ABM86881,ABM83618,NP_003322,AAS37680,EAW84099,EAW84100,BAD96392,BAG64635,AAH14243,CAA38449,P29597,Q53HA9 Hs.75516 JTK1 non-receptor tyrosine-protein kinase TYK2 protein-coding 1313979 TYMP thymidine phosphorylase This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 2293715,2293718,2293723,2293721,2293727,2293724,2293725,2293714,2293716,2293726,2293720,2293717,2293719,2293722,1580863,1601000,2325155,2325158,2325156,2325157,2325027 18986516,2005900,9924029,2328255,18029348,19344718,19330019,19295266,19093516,19056268,19023133,20488166,20355241,20372793,18955007,18922971,18848756,18765464,18725595,18559600,18359286,18341568,18019682,17999375,17923735,17854149,17688376,17681069,17497037,17437622,17103175,16969493,16803458,16798057,16685420,16458893,16369467,16317434,16198108,16132996,15978330,15879300,15781193,15756433,15756429,15607208,15571282,15571260,15571233,15489334,15474072,15375582,15374822,15289834,15262124,15254700,15201953,15123637,15069545,14966914,14719072,14702180,14702039,14571777,12918063,12824363,12820387,12813027,12684660,12639965,12565868,12520153,12477932,12466967,12429983,12177387,12174926,11992400,11986782,11957147,11925935,11920479,11733540,11297264,11041061,10493829,10472757,9857235,9626068,9373149,8889548,8164833,8125298,8038210,3549724,2823522,2467210,1733667,1590793,1570012,1400349,19913121,20628086,19555658,19654105,19862010,20112501,20139978,20843780 2293715,2293718,2293723,2293721,2293727,2293724,2293725,2293714,2293716,2293726,2293720,2293717,2293719,2293722,1601000,2325155,2325158,2325156,2325157 1890 CR608523,NM_001953,NM_001113756,NG_011860,CH471138,M58602,U62317,AK057214,AK225269,AK298691,AK301194,AK314716,BC018160,BC052211,BF338223,BJ995731,BM727471,CR598122,CR600249,CR601424,CR601687,CR602986,CR604852,CR608324,NM_001113755,CR610057,CR610293,CR610417,CR611811,CR613294,CR613512,CR615106,CR616233,CR619786,CR622550,CR623877,M63193,BX361521,HQ205666,HQ205667,HQ205668,HQ205669,HQ205670,HQ205671,HQ205672,HQ205673,HQ205674,HQ205675,HQ205676,HQ205677,HQ205678,HQ205679,HQ205680,HQ205681,HQ205682,HQ205683,HQ205684,HQ205685,HQ205686,HQ205687,HQ205688,HQ205689,HQ205690,HQ205691,HQ205692,HQ205693,HQ205694,HQ205695,HQ205696,HQ205697,HQ205698,HQ205699,HQ205700,HQ205701,HQ205702,HQ205703,HQ205704,HQ205705 NP_001107227,NP_001944,NP_001107228,EAW73560,EAW73561,EAW73562,EAW73563,EAW73564,AAB03344,BAG51886,BAG60851,BAG62774,BAG37260,AAH18160,AAH52211,AAA60043,P19971,ABM82382,ABM85560,ADP91533,ADP91494,ADP91495,ADP91496,ADP91497,ADP91498,ADP91499,ADP91500,ADP91501,ADP91502,ADP91503,ADP91504,ADP91505,ADP91506,ADP91507,ADP91508,ADP91509,ADP91510,ADP91511,ADP91512,ADP91513,ADP91514,ADP91515,ADP91516,ADP91517,ADP91518,ADP91519,ADP91520,ADP91521,ADP91522,ADP91523,ADP91524,ADP91525,ADP91526,ADP91527,ADP91528,ADP91529,ADP91530,ADP91531,ADP91532 Hs.592212 ECGF|ECGF1|MEDPS1|MNGIE|MTDPS1|PDECGF|TP|hPD-ECGF OTTHUMP00000196767|OTTHUMP00000196770|gliostatin|tdRPase|thymidine phosphorylase protein-coding 732334 TYMS thymidylate synthetase Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occuring antisense transcript rTSalpha (GeneID:55556) vary inversely when cell-growth progresses from late-log to plateau phase. [provided by RefSeq] 1545055,1300048,2315839,1580863,2317413,2317418 19913121,20530282,20565774,20570913,20571234,20580582,20615890,20628086,20628382,20628391,20634891,20638924,20647221,20665215,20670920,20714149,20819423,2656695,15504738,2987839,16079077,19493349,19460136,19427504,19426394,19384296,19374805,19339911,19339270,19332728,19307503,19295264,19190136,19162321,19161160,19159907,19154585,19147506,19082493,19074750,19064578,19048631,19020767,19020759,19020309,18992148,18990369,18989779,18988749,18985814,18983896,18976010,18855534,18830263,18785313,18728661,18722050,18704422,18677108,18676755,18676680,18669903,18642643,18636124,18635682,18629514,18607581,18600534,18597678,18593893,18589584,18584349,18540691,18510611,18505590,18498133,18458991,18448328,18430179,18427977,18406541,18381794,18370400,18365142,18336674,18322994,18299612,18285546,18281538,18274813,18267032,18245544,18221821,18203297,18192902,18177869,18174236,18098291,18095031,17971770,17891500,17854149,17716232,17688376,17684476,17684410,17661145,17659576,17655928,17596206,17581305,17551301,17549369,17546637,17512053,17454638,17449906,17439323,17417073,17410198,17395259,17385677,17377791,17372271,17369151,17367411,17317154,17311259,17290389,17273745,17220568,17203168,17201138,17187508,17181924,17065089,17018589,17000685,16929515,16920564,16773218,16723031,16722845,16675565,16622263,16617381,16609021,16596248,16580699,16575011,16467096,16456808,16447238,16424979,16365025,16334126,16333305,16328315,16328059,16317430,16284371,16259621,16242255,16234002,16219137,16188144,16182121,16162288,16141798,16132996,16130010,16077970,16051637,16045580,16030402,15999119,15993511,15985285,15953655,15930032,20734048,20737570,20815815,20824655,20932673,20962453,20966539,21036767,21048041,21057378,15817609,15797993,15788669,15736425,15735113,15713801,15682292,15677700,15598787,15585623,15579479,15571283,15571263,15571262,15510613,15489334,15459215,15457444,15386371,15386366,15355920,15316940,15284183,15260847,15259039,15251465,15244514,15213713,15198953,15161716,15115918,15093541,14977639,14970324,14967037,14760062,14745930,14702180,14656021,14586640,14578129,14576935,14519641,14519634,12972956,12907731,12859954,12845668,12782596,12706868,12684695,12640689,12604405,12576452,12576451,12530000,12477932,12466474,12239455,12220503,12215845,12147691,12084462,12084461,12084460,12084459,12084458,12067974,12018454,11992400,11989786,11937185,11804689,11747337,11697906,11445856,11329255,11316879,11278511,11251164,11251009,11102983,9373149,9148948,8845352,8449516,8125298,3839505,2532645,2243092,1720706,11799066,15897576,20651387,19170196,19306093,19444465,19513514,19546880,19568409,19571608,19619240,19621386,19625176,19632929,19636001,19651439,19672780,19692168,19722231,19724871,19748501,19750576,19751277,19774638,19822515,19837268,19850635,19858398,19858780,19885596,19888426,19917450,19956635,19998340,20047592,20101025,20112501,20122156,20151707,20165956,20177420,20180013,20216541,20235210,20237949,20306339,20310006,20331623,20368715,20371218,20372856,20381446,20385995,20447923,20453000,20458436,20504250,20515563,20531375,20544798,20448332,20012317,20372850,20647341 1545055,2315839,2317418 7298 AK223372,AK292620,AK314140,BC002567,BC013919,BC018858,BC083512,BT006811,CR595729,CR600251,CR601110,CR601528,CR605696,CR607354,CR607878,CR608281,CR611174,CR612332,CR612901,CR616172,CR617359,CR617715,CR618525,CR625557,X02308,NM_001071,AP001178,CH471113,D00517,D00596,AB062290,AB077207,AB077208 BAD97092,BAF85309,BAG36830,AAH02567,AAH13919,AAH83512,AAP35457,CAA26178,P04818,Q53FB7,Q53Y97,Q8WYK3,BAB83677,NP_001062,EAX01716,EAX01717,EAX01718,EAX01719,EAX01720,EAX01721,EAX01722,BAA00404,BAA00472,BAB93473,BAB83676,Q8WYK4,ABM83075 Hs.592338 HST422|MGC88736|TMS|TS TSase|thymidylate synthase protein-coding 1346000 TYR tyrosinase (oculocutaneous albinism IA) The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq] 1599686,1599687,1580863 20585627,20588308,11092760,7704033,10823941,19384953,19360691,19342661,19340012,19320745,19208379,19060277,18845991,18821858,18791269,18701257,18676680,18636124,18563784,18488027,18478240,18463683,18457359,18425346,18390556,18337837,18326704,18296661,18181974,17999355,17952075,17850513,17766092,17718595,17516931,17496783,17496782,17265558,17200659,17081065,16907708,16737954,16565383,1899321,1832718,1711223,1642278,1487241,666627,16447258,16417222,16272362,16056219,15958486,15885985,15854130,15838343,15677452,15635296,15489334,15381243,15210908,15146472,14634018,14623273,12925214,12817591,12727022,12710945,12643545,12579416,12565907,12519123,12477932,12028586,11858948,11812790,11720436,11710942,11532853,11295837,11214319,11153699,10987646,10766867,10671066,10571953,10094567,9259202,9158138,8889548,8644824,8477259,8340755,8234203,8128955,8040609,7955413,7902671,5516239,3146546,2854305,2823263,2567165,16517127,16477373,2511845,2504160,2499655,2480811,2342539,2120217,2113511,1970634,1943686,1905879,1903591,1903356,1900309,1900307,15716956,19170196,19336006,19578364,19625176,19626598,19692168,19710684,19865097,20006830,20083666,20410501,20447099,16162817,20861851 1599686,1599687 7299 NM_000372,NG_008748,AF237811,AP000720,AY012019,CH471185,M63239,S66648,X16073,BC027179,BU736025,J03581,M27160,M74314,S66645,U01873,Y00819 NP_000363,AAK00805,AAG38762,EAW59356,EAW59357,AAA61242,AAD13985,CAA34205,AAH27179,AAA61241,AAB37227,AAA61244,AAD13984,AAB60319,CAA68756,P14679,Q9UMA2 Hs.503555 CMM8|OCA1A|OCAIA|SHEP3 LB24-AB|SK29-AB|monophenol monooxygenase|tumor rejection antigen AB|tyrosinase protein-coding 1343264 TYRL tyrosinase-like (pseudogene) 1580863 17355913,8234203,1903356 7300 NG_001529,AC118942,AC135977,M63240,M63241 AAA73001,Q15677,Q9UMA1 pseudo 736404 TYRO3 TYRO3 protein tyrosine kinase 1580531,1580534,1580863 20664904,20637106,20348395,7511603,8108112,18620092,18029348,17005688,15964779,15733062,15489334,14702039,14623883,12768229,12477932,10627473,9175267,8939948,8641360,8621659,8262388,8108143,7857658,7537495,19805117,20098747 1580531,1580534 7301 NM_006293,AC016134,CH471125,D26146,AK022124,AK131389,AK295496,BC029925,BC034960,BC049368,BC051756,CR590956,CR605047,D17517,D50479,U02566,U05682,X72886,AB209431,DB483422 NP_006284,EAW92506,EAW92507,EAW92508,BAA05134,BAG58416,AAH29925,AAH49368,AAH51756,BAA04467,BAA21781,AAA17407,AAA19236,CAA51396,Q06418,Q12787,Q15879,Q59FM9,Q8N6J3,BAD92668 Hs.381282 BYK|Brt|Dtk|FLJ16467|RSE|Sky|Tif tyro3 protein tyrosine kinase 3|tyrosine-protein kinase DTK|tyrosine-protein kinase RSE|tyrosine-protein kinase SKY|tyrosine-protein kinase byk|tyrosine-protein kinase receptor TYRO3 protein-coding 1345332 TYRO3P TYRO3P protein tyrosine kinase pseudogene 8262388,7851890 7302 AC027243,X72887,NR_028510 Hs.684881 pseudo 1351113 TYROBP TYRO protein tyrosine kinase binding protein This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been deterimined. [provided by RefSeq] 1580863 20628624,17012248,9490415,19075187,19019460,17530208,17277102,17202323,17125796,17100880,16505336,16339517,16206234,15557162,15489334,15356118,14707061,12925681,12591902,12569153,12477932,12426565,12426564,12370476,12207350,12080485,11922939,11169398,10940905,10888890,10799849,10604985,10449773,10201920,10049942,9828133,9655483,9463329,8889548,15342556,16715077,17301953,19120482,19606219,20212065,20421649 7305 NM_198125,NG_009304,AD000833,AD000864,AF019563,AF019562,AJ010098,AK290385,AY074782,BC011175,BQ576278,BT009851,NM_003332,CR450342,CR542202,BI908458,BP295666,BP302545,BP305672,NM_001173514,NM_001173515,NR_033390 NP_003323,NP_937758,AAD09437,AAD09436,CAB52288,BAF83074,AAL74017,AAH11175,AAP88853,CAG29338,CAG46999,O43914,ABM82018,ABM85200,NP_001166985,NP_001166986 Hs.515369 DAP12|KARAP|PLOSL DNAX-activation protein 12|KAR-associated protein|TYRO protein tyrosine kinase-binding protein|killer activating receptor associated protein|killer-activating receptor-associated protein protein-coding 1351708 TYRP1 tyrosinase-related protein 1 This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq] 1599692,1580863 19913121,20585627,20628086,19240061,19060277,18680187,18563784,18488028,18488027,18463683,18326704,18312627,17766092,17200659,17081065,17071589,16934245,16704458,16344560,15996218,15489334,14634018,14623273,12766061,12643545,12519123,12477932,12011806,11775055,11441007,10952393,9872531,9447965,9434945,9345097,18029348,19384953,19287070,8651291,8530077,8040609,7881448,2324688,2111010,1945866,1906272,1769662,1693779,1673236,1577487,1575733,1321344,19710684,19865097,20221248,19841138,20668223 1599692 7306 NM_000550,NG_011705,AF001295,AL138753,AY395736,CH471071,D83059,L33830,L38952,X60955,AK297887,AL600654,BC052608,CD679533,CR407683,DA278582,X51420,X51455 NP_000541,AAC15468,CAD13328,CAH73438,AAR01256,EAW58709,EAW58710,EAW58711,EAW58712,BAA11759,AAC41924,CAA43288,BAG60208,AAH52608,CAG28611,CAA35785,CAA35820,P17643,Q6LES1,Q6TKR2,Q8WX62 Hs.270279 CAS2|CATB|GP75|TRP|TYRP|b-PROTEIN 5,6-dihydroxyindole-2-carboxylic acid oxidase|DHICA oxidase|OTTHUMP00000022789|TRP-1|TRP1|catalase B|glycoprotein 75|melanoma antigen gp75 protein-coding 1344016 TYS sclerotylosis 7303 1316504 TYSND1 trypsin domain containing 1 All peroxisomal proteins are synthesized in the cytosol, and 2 distinct peroxisomal targeting signals (PTSs), the C-terminal PTS1 and N-terminal PTS2, are used for transport of these proteins into peroxisomes. Proteolytic cleavage of the N-terminal targeting sequence of PTS2 proteins accompanies import into peroxisomes, and many PTS1 proteins undergo C-terminal processing once in the peroxisomal matrix. TYSND1 processes both PTS1 and PTS2 proteins involved in beta-oxidation of fatty acids (Kurochkin et al., 2007 [PubMed 17255948]).[supplied by OMIM] 737633 16385451,19615732,20379614,17255948,14702039,12477932 737633 219743 NM_001040273,NM_173555,AL731540,CH471083,AK074968,AK097697,BC016840,BC030242,BC042629,BC047424,BC111501 NP_001035363,NP_775826,CAI13685,CAI13686,EAW54375,EAW54377,AAH16840,AAH30242,AAI11502,Q2T9J0 Hs.720071 FLJ40378|MGC131934|MGC34695|NET41 peroxisomal leader peptide-processing protease|trypsin domain-containing protein 1 protein-coding 1345301 TYW1 tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW1 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM] 737633,1580863 17150819,16162496,15489334,14702039,12853948,12477932,20379614 737633 55253 NM_018264,AC006480,AC073089,AC079920,CH471140,AK001762,AK022917,AK301330,BC015591,BC042156,BC051888 NP_060734,AAS07568,AAS07520,EAX07903,EAX07904,EAX07905,BAA91891,BAB14307,BAG62878,AAH15591,AAH42156,AAH51888,Q9NV66 Hs.520917 FLJ10900|MGC23001|MGC60291|RSAFD1|TYW1A|YPL207W radical S-adenosyl methionine and flavodoxin domain-containing protein 1|radical S-adenosyl methionine and flavodoxin domains 1|radical s-adenosyl methionine and flavodoxin domains 1|tRNA wybutosine-synthesizing protein 1 homolog|tRNA-yW synthesizing protein 1 homolog A|tRNA-yW-synthesizing protein protein-coding 2303834 TYW1B tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine (yW). The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17150819,16344560,16162496,15489334,12477932,20379614 441250 NM_001145440,NM_001145441,AC005236,AC091738,AC092536,AC105447,AC114731,AC114816,AI984113,AK294319,AK294401,AK301471,AK303225,AK309556,AK310913,BC068520,BC106019,DA769764 NP_001138912,NP_001138913,BAG57593,BAG57654,BAG62990,BAG64312,AAH68520,AAI06020,Q6NUM6 Hs.488614 MGC87315|NCRNA00069|RSAFD2 radical S-adenosyl methionine and flavodoxin domain-containing protein 2|radical S-adenosyl methionine and flavodoxin domains 1|tRNA wybutosine-synthesizing protein 1 homolog B|tRNA-yW synthesizing protein 1 homolog B (non-protein coding) protein-coding 1603913 TYW3 tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM] 17150819,16344560,15489334,14702039,12477932,8889548 127253 NM_138467,NM_001162916,NR_027962,AC091611,CH471059,AK098237,AK294264,AK299849,AK311272,BC009514,BC032341,BC071765,BM680331,BX647591,CR617954,DA033034 NP_612476,NP_001156388,EAX06408,BAC05267,BAG57557,BAG61711,AAH09514,AAH71765,CAI46106,Q6IPR3 Hs.348411 C1orf171|FLJ40918 tRNA wybutosine-synthesizing protein 3 homolog|tRNA-yW-synthesizing protein 3 protein-coding 1349504 U2AF1 U2 small nuclear RNA auxiliary factor 1 This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 1580863 15950937,16809543,16043505,15899895,15489334,15474994,15096518,14702039,12477932,12297299,11991638,11830556,11724776,11604503,11533230,11500380,11448987,11118443,11060040,10830953,9799243,9645944,9472028,9237760,9016565,8660980,8647433,8261509,7956352,1824937,16189514,15146077,9671485,9528748,16712791,11551507,15652350,1388271,12226669,9731529,18285458,18211889,17081983,16940179,16855028,12234937,16014633,17577209,17643375,20514852,8816452,9671816,17207965 7307 NM_006758,NM_001025203,NM_001025204,AL832781,AP001631,AP001748,AP002085,CH471079,AB451244,AF370386,AJ627978,AK022152,AK023589,AK094435,AK098266,AK307560,AL832665,BC001177,BC001923,BC005915,BC013786,BC032521,CB110007,CR606196,M96982 NP_006749,NP_001020374,NP_001020375,BAA95534,EAX09501,EAX09502,EAX09503,EAX09504,EAX09505,EAX09506,BAG70058,AAQ15222,CAF29556,CAH10401,AAH01177,AAH01923,AAH05915,AAA36619,Q01081,Q69YM7,Q701P4,Q71RF1,Q7Z780,ADQ32249 Hs.365116 DKFZp313J1712|FP793|RN|RNU2AF1|U2AF35|U2AFBP OTTHUMP00000214620|U2 auxiliary factor 35 kDa subunit|U2 small nuclear RNA auxillary factor 1|U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit|U2 snRNP auxiliary factor small subunit|U2(RNU2) small nuclear RNA auxiliary factor 1|U2(RNU2) small nuclear RNA auxiliary factor binding protein|splicing factor U2AF 35 kDa subunit|splicing factor U2AF 35kDa subunit|u2(rnu2) small nuclear rna auxiliary factor 1 protein-coding 1343980 U2AF1L4 U2 small nuclear RNA auxiliary factor 1-like 4 1580863 18460468,16147880,14702039,12477932,11739736,8889548,8630064,8586425,20696395 199746 NM_001040425,NM_144987,AD000671,AI767079,AK092844,AK094213,AK303983,AY461582,AY569437,BC010865,BC021186,BC049208,BC062474,BM696851,CD175846 NP_001035515,NP_659424,BAC03988,BAG64901,AAT72770,AAH21186,Q8NAD5,Q8WU68,ABM83348,ABM86562 Hs.351558 FLJ35525|MGC33901|U2AF1-RS3|U2AF1L3|U2AF1L3V1|U2AF1RS3|U2af26 U2 auxiliary factor 26|U2 small nuclear RNA auxiliary factor 1-like 3|U2 small nuclear RNA auxiliary factor 1-like protein 3|U2 small nuclear RNA auxiliary factor 1-like protein 4|U2(RNU2) small nuclear RNA auxiliary factor 1-like 3|U2(RNU2) small nuclear RNA auxiliary factor 1-like protein 3|U2AF1-like protein 3|splicing factor U2AF 26 kDa subunit|u2(rnu2) small nuclear rna auxiliary factor 1-like 3 protein-coding 1321740 U2AF2 U2 small nuclear RNA auxiliary factor 2 U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq] 1580863 1388271,12234937,9242493,9671485,9528748,9447963,12226669,9731529,19574390,19244360,18974054,18842594,18508922,18285458,17353931,17188295,17137510,17081983,17024186,16940179,16809543,16713569,16682775,16376933,16189514,16169070,16097034,16043505,15694343,15635413,15456888,15231748,15146197,14576315,12718882,12477932,12456665,12403470,12297299,12189174,12176931,11790298,11551507,11118443,11060040,10866799,10593950,10449420,10449418,9784496,9645944,9512519,9472028,9237760,9150140,9016565,8816452,8647433,1824937,1538748,20696395,16014633 11338 NM_007279,NM_001012478,AC008735,CH471135,AB451261,AB451387,AK311672,BC008740,BC030574,CN364862,CR609498,X64044 NP_009210,NP_001012496,EAW72402,EAW72403,EAW72404,BAG70075,BAG70201,AAH08740,AAH30574,CAA45409,P26368 Hs.528007 U2AF65 U2 (RNU2) small nuclear RNA auxiliary factor 2|U2 auxiliary factor 65 kDa subunit|U2 small nuclear ribonucleoprotein auxiliary factor (65kD)|U2 snRNP auxiliary factor large subunit|hU2AF(65)|hU2AF65|splicing factor U2AF 65 kD subunit|splicing factor U2AF 65 kDa subunit|u2 (rnu2) small nuclear rna auxiliary factor 2 protein-coding 1352439 U3 RNA, U3 small nucleolar 15574333,15574332,8440138,6186397,2719960,10606270 6067 XR_016096,XR_016095,NR_002906,K00777 RNU3 snorna 1352491 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats 1580863 11162650,19240061,15489334,15302935,15358194,15146197,14702039,12477932,10997877,8889548,12421765,15604093,16730941 55075 NM_018003,NM_001008224,AC009269,AC087699,CH471082,AB046781,AF322916,AK000990,AK055435,AK057207,AL834243,AL834464,BC016881,BC113407,BC113409,BC143266,BC143267,BM693348,BU736944,CN303461 NP_060473,NP_001008225,EAW77853,EAW77854,EAW77855,BAB13387,AAG49577,BAA91457,BAB70922,CAD38920,CAD39123,AAH16881,AAI13408,AAI13410,AAI43267,AAI43268,Q05DB3,Q8NDD7,Q96NH6,Q9BZF9 Hs.108049 FLJ10128|KIAA1561|MGC141967|MGC141969|NUCLING nuclear membrane binding protein|uveal autoantigen with coiled coil domains and ankyrin repeats|uveal autoantigen with coiled-coil domains and ankyrin repeats protein-coding 1319461 UAP1 UDP-N-acteylglucosamine pyrophosphorylase 1 1625539,1580863 16710414,9603950,15489334,12477932,11707391,9765219,9621304,8025165,16712791,18029348,19536175 1625539 6675 NM_003115,AL596325,CH471067,AB011004,AK312685,AW136085,BC009377,CB125476,S73498 NP_003106,CAH72977,CAH72978,CAH72979,CAH72980,EAW90710,EAW90711,EAW90712,BAA31202,BAG35565,AAH09377,AAB31210,Q16222 Hs.492859 AGX|AGX1|AGX2|SPAG2 OTTHUMP00000032326|OTTHUMP00000032327|UDP-N-acetylhexosamine pyrophosphorylase|antigen X|sperm associated antigen 2|sperm-associated antigen 2 protein-coding 1321645 UAP1L1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 14702039,12477932 91373 NM_207309,AL807752,CH471090,AK022632,AK074143,AK095393,AK128529,AL832421,BC010529,BC012838,BC041644,BC106035,BC136391,BX333979,CR979381 NP_997192,CAI12779,CAM14424,EAW88340,EAW88341,EAW88342,EAW88343,BAB84969,BAG53040,BAC87482,CAH10651,AAI06036,AAI36392,Q3KQV9,Q8TEI1 Hs.142076 RP11-229P13.18 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 protein-coding 1604847 UBA1 ubiquitin-like modifier activating enzyme 1 The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq] 16211010,18508924,19019082,12887909,15184379,14638690,12485996,12438698,11927591,11278247,12431996,16227972,17956732,18661401,18179898,18029348,17597759,17060614,16964243,16713569,16595681,15592455,15489334,15302935,15247261,15202508,14733918,14702039,12883554,12477932,11447495,9467000,8663123,8573590,7724583,7673335,3390177,2390975,2323223,1986373,1871145,1845793,1606621,1544321,17682061,17873020,17965458,17980597,17996703,18498246,18206970,18498243,11846513,18287095,16169070,17580310,19723899 7317 NM_153280,NM_003334,NG_009161,AJ003111,AL513366,CH471164,AF258566,AK097343,AK131341,AK293161,AK296866,BC009900,BC013041,BC020261,BG703038,BI547207,CR594399,CR596473,CR600825,CR621823,M58028,X52897,X56976 NP_695012,NP_003325,CAA05866,CAI41703,CAI41704,CAI41705,CAI41706,CAI41707,CAI41708,CAI41710,EAW59290,EAW59291,EAW59292,EAW59293,AAG23769,BAG53454,BAG56705,BAG59429,AAH13041,AAA61246,CAA37078,CAA40296,P22314,Q5JRR6,Q5JRR9,Q5JRS0,Q712V1,Q8WY81,ABW03826,ABW03513 Hs.533273 A1S9|A1S9T|A1ST|AMCX1|GXP1|MGC4781|POC20|SMAX2|UBA1A|UBE1|UBE1X A1S9T and BN75 temperature sensitivity complementing|POC20 centriolar protein homolog|UBA1, ubiquitin-activating enzyme E1 homolog A|ubiquitin-like modifier-activating enzyme 1 protein-coding 1602133 UBA2 ubiquitin-like modifier activating enzyme 2 10187858,17353931,16679534,16620772,16455490,15660128,15489334,15302935,14702039,12924945,12477932,11481243,11451954,11230166,10217437,9920803,9853615,16169070,16189514,15546615,11792325,18680593,18691969 10054 AC008747,AB015337,AB208872,AF079566,AF090384,AF110957,AK023120,AK024114,AK124730,AK315521,AL136905,BC003153,NM_005499,BG503066,BG678201,BM556031,BT009781,CR456756,U35832,AK299514,XR_109486,XR_111852,XR_115269 NP_005490,BAA34795,BAD92109,AAD23914,AAD12784,AAD24434,BAG51158,BAG51265,BAG54081,BAG37902,CAB66839,AAH03153,AAP88783,CAG33037,AAC99992,Q9UBT2,ABM84349,ABW03558,BAH13056 Hs.631580 ARX|FLJ13058|HRIHFB2115|SAE2 SUMO-1 activating enzyme subunit 2|SUMO-activating enzyme subunit 2|SUMO1 activating enzyme subunit 2|UBA2, ubiquitin-activating enzyme E1 homolog|anthracycline-associated resistance ARX|ubiquitin-like 1-activating enzyme E1B protein-coding 737348 UBA3 ubiquitin-like modifier activating enzyme 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 634396 19250909,10722740,15361859,12740388,9694792,11256614,18652489,16620772,16503656,16400609,16381901,15694336,15489336,15489334,14702039,14690597,12646924,12477932,11230166,11076863,10409428,10207026,16169070,17353931,19615732 634396 9039 NM_003968,AC092060,AC109587,CH471055,AB012190,AF046024,AK002159,AK289392,AK298878,AK314751,AK316540,AL117566,BC022853,BG940987,CD700642,CR533537,CR598743,CR606720,NM_198195 ABM87464,NP_937838,NP_003959,EAW65470,BAA33144,AAC27648,BAF82081,BAH12892,BAG37290,BAH14911,CAB55996,AAH22853,CAG38568,Q8TBC4,CAL37771,CAL37966,ABM84093 Hs.154320 DKFZp566J164|MGC22384|UBE1C|hUBA3 NEDD8-activating enzyme E1 catalytic subunit|NEDD8-activating enzyme E1C|Nedd8-activating enzyme hUba3|OTTHUMP00000205509|UBA3, ubiquitin-activating enzyme E1 homolog|ubiquitin-activating enzyme 3|ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)|ubiquitin-activating enzyme E1C (homologous to yeast UBA3)|ubiquitin-like modifier-activating enzyme 3 protein-coding 1323296 UBA5 ubiquitin-like modifier activating enzyme 5 This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A pseudogene located on chromosome 1 has also been identified. [provided by RefSeq] 20368332,16381901,16344560,16328888,16189514,15489336,15489334,15071506,14702039,12477932,11230166,11076863,8889548,18442052,11256614,20562859,18029348 79876 NM_198329,NM_024818,AC020632,CH471052,AB154406,AK026904,AK027563,AK056238,AK129616,AK310239,AL136757,AY253672,BC009737,BC048015,BM541647,BQ581736,BU739244,CR615958,DB082596,DB457433,AL832669 NP_938143,NP_079094,EAW79189,EAW79190,EAW79191,EAW79192,BAD15375,BAB15587,BAB55199,CAB66691,AAP79600,AAH09737,Q9GZZ9,CAL37403,CAL38002 Hs.170737 FLJ17281|FLJ23251|FLJ23251UBA5|THIFP1|UBE1DC1 OTTHUMP00000216394|OTTHUMP00000217048|OTTHUMP00000217050|UBA5, ubiquitin-activating enzyme E1 homolog|UFM1-activating enzyme|ubiquitin-activating enzyme 5|ubiquitin-activating enzyme E1 domain-containing protein 1|ubiquitin-activating enzyme E1-domain containing 1|ubiquitin-like modifier-activating enzyme 5 protein-coding 68482 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq] 1850507,1330885,11438941,14564014,2581967,15189156,14567916,16396496,16199891,15936278,15761153,15231748,15057824,14528304,12960054,12857745,12477932,12367500,11916981,11875025,11597332,11163799,9582194,8889548,8722009,8702753,8188300,8107144,8012384,3037496,2537304,16763556,17872946,10995389,11285280,11931757,12609980,12787561,12791267,15029244,15721744,16997282,20936779,15276183,10882101,11231585,16712791 7311 NG_023288,NM_001033930,NM_003333,AC005253,CH471106,DQ479851,X56997,Z57470,AF348700,AF545864,AK057790,AK314717,BC101830,BC101832,BC143668,BQ428515,BQ428688,BU677484,CB124676,CR605557,CR624915,X56998,X56999,Y00361 NP_001029102,NP_003324,AAC25582,EAW84715,EAW84716,EAW84717,EAW84718,ABE96835,CAA40312,AAK31162,AAP97731,BAG37261,AAI01831,AAI01833,AAI43669,CAA40313,CAA40314,CAA68439,P62987,Q3MIH3,Q7Z4P3 Hs.5308 CEP52|HUBCEP52|MGC126879|MGC126881|MGC57125|RPL40 60S ribosomal protein L40|ribosomal protein L40|ubiquitin carboxyl extension protein 52|ubiquitin-52 amino acid fusion protein|ubiquitin-60S ribosomal protein L40|ubiquitin-CEP52 protein-coding 1349898 UBA52P1 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 1 19123937,1330885 7312 NG_001207,AC005165,CH236948,M62405 RPL40_1_796 pseudo 1350773 UBA52P2 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 2 19123937,1330885 7313 NG_001208,AL161747,M62406 RPL40_4_1339 pseudo 1347449 UBA52P3 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3 19123937 122837 NG_002524,AL121579 RPL40_5_1373 pseudo 2305186 UBA52P4 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 4 19123937 100271030 NG_010942,AC099535 RPL40_1_352 pseudo 2305185 UBA52P5 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 5 19123937 100271031 NG_010950,AC068228 RPL40_2_948 pseudo 2304383 UBA52P6 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 19123937 100130239 NG_010990,AL354709 RPL40_3_969 pseudo 2305675 UBA52P7 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 7 19123937 100128617 NG_010545,AC009803 RPL40_2_1281 pseudo 2304804 UBA52P8 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 19123937 100271343 NG_011237,AC023818 RPL40_3_1481 pseudo 2304803 UBA52P9 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 9 19123937 100271344 NG_011241,AC021382 RPL40_4_1591 pseudo 1605374 UBA6 ubiquitin-like modifier activating enzyme 6 Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM] 11256614,18353650,17889673,17597759,17580310,16381901,15815621,15489336,15489334,15231748,15202508,14702039,12477932,11230166,11076863,8889548 55236 NM_018227,AC079880,CH471057,AB014773,AK001670,AK027020,AK094164,AK094969,AK314371,AL596839,AL832015,AL832458,AW451445,AY359880,BC031637,BC126484,BC126486,BM973988,EF623993,AC096720 NP_060697,AAY40999,EAX05549,EAX05550,EAX05551,EAX05552,EAX05553,BAB19785,BAA91824,BAG52833,BAC04463,BAG37000,CAD89908,CAD89959,AAQ63403,AAH31637,AAI26485,AAI26487,ABR25253,A0AVT1,CAL37551 Hs.725981 E1-L2|FLJ10808|FLJ23367|MOP-4|UBE1L2 UBA6, ubiquitin-activating enzyme E1|monocyte protein 4|ubiquitin-activating enzyme 6|ubiquitin-activating enzyme E1-like 2|ubiquitin-activating enzyme E1-like protein 2|ubiquitin-like modifier-activating enzyme 6 protein-coding 1318027 UBA7 ubiquitin-like modifier activating enzyme 7 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq] 1580863 20601676,16428300,19074853,18583345,16254333,14976209,12665801,12477932,11891284,11157743,10709110,8327486,7734949,1311632,16189514,16169070,16884686,20307617,8940097,18057259 7318 NM_003335,AC139451,AF294032,CH471055,BC006378,BM152341,BT007026,CA425139,L13852 NP_003326,AAG49557,EAW65023,EAW65024,AAH06378,AAP35672,AAA75388,P41226,ABM84233,ABM84633 Hs.16695 D8|MGC12713|UBA1B|UBE1L|UBE2 UBA1, ubiquitin-activating enzyme E1 homolog B|UBA7, ubiquitin-activating enzyme E1|ubiquitin-activating enzyme 7|ubiquitin-activating enzyme E1 homolog|ubiquitin-activating enzyme E1-like|ubiquitin-activating enzyme E1-related protein|ubiquitin-activating enzyme-2|ubiquitin-like modifier-activating enzyme 7 protein-coding 1346576 UBAC1 UBA domain containing 1 16227581,17353931,16310047,16189514,15746103,15531880,15489334,15231748,15164053,12477932,18029348,10857748,9110174,8619474 10422 NM_016172,AL355574,CH471090,AF038200,AF068195,AF176796,BC004967,BC011822,BX647463,CR590831,CR591205,CR591593,CR592166,CR595884,CR599174,CR601673,CR603032,CR604883,CR609611,CR611514,CR611758,CR617611,CR619664,CR620351,CR626744 NP_057256,CAI14118,EAW88187,EAW88188,EAW88189,EAW88190,AAC21559,AAD51084,AAH04967,AAH11822,Q9BSL1,ABM83493,ABM86708 Hs.9194 GBDR1|RP11-432J22.3|UBADC1 E3 ubiquitin-protein ligase subunit KPC2|UBA domain-containing protein 1|glialblastoma cell differentiation-related protein 1|kip1 ubiquitination-promoting complex protein 2|putative glialblastoma cell differentiation-related protein|ubiquitin associated domain containing 1|ubiquitin-associated domain-containing protein 1 protein-coding 1323278 UBAC2 UBA domain containing 2 16303743,15489334,15057823,14702039,12477932,11991713,16169070,20379614 337867 NR_026644,NM_177967,AL136961,AL159981,AL160155,CH471085,CQ834234,NM_001144072,CQ834238,CS051229,AF339812,AI866141,AK054563,AK055110,AK075419,AK075516,AK124404,AK129861,AK290342,AK300908,BC053346,BC063559,BC072674,BC121138,BC121139,BC143265,CR611931 NP_001137544,NP_808882,CAH70935,CAH70936,CAH70937,CAI16940,CAI16941,CAI16943,CAI14300,CAI14301,CAI14303,EAX09010,EAX09011,EAX09012,EAX09013,EAX09014,EAX09015,EAX09016,CAH05332,CAH05334,CAI72110,BAB70757,BAG51469,BAC11609,BAC11665,BAG54036,BAF83031,BAH13373,AAH63559,AAH72674,AAI21139,AAI21140,Q8NBM4 Hs.508545 FLJ26351|FLJ30001|FLJ30548|FLJ42413|MGC90487|PHGDHL1 RP11-178C10.1|UBA domain-containing protein 2|phosphoglycerate dehydrogenase like 1|phosphoglycerate dehydrogenase-like protein 1|ubiquitin-associated domain-containing protein 2 protein-coding 1313064 UBAP1 ubiquitin associated protein 1 This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. [provided by RefSeq] 15342556,16344560,11256614,19217189,16381901,16226037,15489336,15489334,15164053,14702039,12477932,12451983,12050802,11599797,11230166,11076863,9373149,8125298,20670673 51271 BF527586,BP237024,BX473128,DA741347,NM_001171201,NM_001171202,NM_001171203,NM_001171204,NR_033243,AL353662,CH471071,CQ782977,CQ783698,AF222043,AK074426,AK074724,AK074745,AK074812,AK074969,AK074995,AK223235,AK295482,AK303711,NM_016525,AK309329,AL136733,BC020950,BC098141,BC098316,BC099726,BC100668,CR533551,CR620852,CR621006,CR624683 NP_001164672,NP_001164673,NP_001164674,NP_001164675,NP_057609,CAI15914,CAI15915,EAW58467,EAW58468,EAW58469,EAW58470,CAF86203,CAF86817,AAF37827,BAC11162,BAC11176,BAC11224,BAC11323,BAC11342,BAD96955,BAH12084,BAH14025,CAB66667,AAH20950,AAH98141,AAH98316,AAH99726,AAI00669,CAG38582,Q9NZ09,CAL38740,ABM82616,ABM85799 Hs.268963 MGC119669|MGC8710|NAG20|UAP|UBAP|UBAP-1 nasopharyngeal carcinoma-associated gene 20 protein|ubiquitin-associated protein 1 protein-coding 1323319 UBAP2 ubiquitin associated protein 2 This gene is a novel gene isolated based on its expression in the human adrenal gland. The full-length protein encoded by this gene contains a UBA-domain (ubiquitin associated domain), which is a motif found in several proteins having connections to ubiquitin and the ubiquitination pathway. In addition, the protein contains a region similar to a domain found in members of the atrophin-1 family. The function of this protein has not been determined. Additional alternate splice variants may exist, but their full length nature has not been determined. [provided by RefSeq] 15951569,15592455,15489334,15164053,15144186,14702039,12975309,12477932,10819331,10737800,8871400,20670673,19615732 55833 BG723831,CR933678,BF332025,NM_018449,AL139113,AL354989,AB040924,AB209911,AF157327,AK025357,AK025801,AK026088,AK057564,AK074884,AK125935,AK128424,AK294952,AK299183,AK302335,AK302754,AK303493,AY358682,BC007890,BC037416,BC041077,BC111409,BC111762,BE410205 CAI45972,Q5H9Q2,Q5JV03,Q5T6F2,Q6UWR4,Q9P0H6,NP_060919,CAI39657,CAI39659,CAI15298,BAA96015,BAD93148,AAF67493,BAG51935,BAC11266,BAG54267,BAG58027,BAG61228,BAH13678,BAG63966,BAG64527,AAQ89045,AAH07890,AAI11763 Hs.493739 FLJ22435|FLJ43947|FLJ46567|KIAA1491|UBAP-2|bA176F3.5 AD-012 protein|OTTHUMP00000000473|ubiquitin-associated protein 2 protein-coding 1354268 UBAP2L ubiquitin associated protein 2-like 1580863 14667819,17081983,16964243,16710414,16094384,15592455,15489334,15302935,15144186,12477932,11230159,8590280,12421765,16713569,17148452,20200978,20237496,18838386 9898 NM_014847,NM_001127320,AL590431,CH471121,AJ243668,AJ243669,AJ243670,AK124294,BC003170,CR598011,CR617355,D63478,DC404293,AK302662,AK302953,AK303533 NP_055662,NP_001120792,CAH71278,CAH71279,CAH71280,CAH71281,CAH71282,CAH71283,CAH71284,CAH71285,CAH71286,EAW53213,EAW53214,EAW53215,EAW53216,EAW53217,EAW53218,EAW53219,EAW53220,CAB65099,CAB65100,CAB65101,AAH03170,BAA09765,Q14157,Q5VU77,Q5VU78,Q5VU79,Q5VU80,Q5VU81,Q5VU85,Q9UGL4,BAG63897,BAG64108,BAG64560 Hs.490551 FLJ42300|KIAA0144|NICE-4 OTTHUMP00000034204|protein NICE-4|ubiquitin-associated protein 2-like protein-coding 1321132 UBASH3A ubiquitin associated and SH3 domain containing, A 1580863 16780588,19073967,18840781,18189269,18006034,17709377,17382318,16429130,15489334,15159412,15107835,12477932,11281453,20647273,14968112,17588522,19430480,20410501,20453842 53347 NM_001001895,AP001624,CH471079,CQ834170,AF520809,AF521702,AJ277750,AK301279,AK308151,AK313367,BC028138,BC069357,NM_018961,BC069483,BC069511,BC069577 NP_061834,NP_001001895,EAX09560,EAX09561,EAX09562,EAX09563,CAH05300,AAP80731,AAP80738,CAB91543,BAG62839,AAH28138,AAH69357,AAH69483,AAH69511,P57075,Q8N6V2 Hs.473912 CLIP4|STS-2|TULA OTTHUMP00000109368|T-cell ubiquitin ligand protein|cbl-interacting protein 4|suppressor of T-cell receptor signaling 2|ubiquitin-associated and SH3 domain-containing protein A protein-coding 1605914 UBASH3B ubiquitin associated and SH3 domain containing, B This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq] 18189269,16429130,16344560,16303743,15489334,15388581,15159412,14702039,12665801,12477932,12370296,11853319,9373149,8889548,8125298,17588522,20379614,20585042 84959 AP002762,CH471065,CQ783295,AB075839,AF425252,AK075203,AK092011,AK222843,AK222846,AL833092,BC007541,CA313832,CR741636,NM_032873,DA197468,HI573876 NP_116262,EAW67531,CAF86506,BAB85545,AAL16953,BAC11468,BAD96563,BAD96566,AAH07541,Q8TF42,CBX47427 Hs.444075 KIAA1959|MGC15437|STS-1|STS1|p70 Cbl-interacting protein Sts-1|SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate|cbl-interacting protein p70|nm23-phosphorylated unknown substrate|suppressor of T-cell receptor signaling 1|ubiquitin-associated and SH3 domain-containing protein B protein-coding 1344008 UBB ubiquitin B This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin is required for ATP-dependent, nonlysosomal intracellular protein degradation of abnormal proteins and normal proteins with a rapid turnover. Ubiquitin is covalently bound to proteins to be degraded, and presumably labels these proteins for degradation. Ubiquitin also binds to histone H2A in actively transcribed regions but does not cause histone H2A degradation, suggesting that ubiquitin is also involved in regulation of gene expression. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. Aberrant form of this protein has been noticed in patients with Alzheimer's and Down syndrome. [provided by RefSeq] 16625196,17323924,18719106,14528304,11597332,11285280,12367500,15029244,12791267,9660940,10995389,11742988,11931757,12070128,12218189,12593796,12820959,15469984,15781449,19608861,19754430,17395554,17237936,17203973,17081983,16701206,16651270,16581786,16543144,16510124,16499958,16443603,16429130,16407252,16288044,16267042,16189514,16137618,16027724,16023596,15761153,15694335,15489334,15469821,15466860,16407834,11231585,17931355,17405812,15231748,15149598,15125833,15105460,15057824,14745543,14722266,14695475,14612456,12960054,12893422,12883554,12871580,12857950,12610113,12507430,12477932,12239347,12234927,12055595,12016299,11991975,11790298,11320250,11173499,11146632,11112487,11087860,11087859,11046148,10871850,10827953,9644242,9525617,9504932,9422699,8917096,8702753,8275493,8166633,8107144,8087846,6275256,6261785,6092831,3041007,3029682,2988935,2820408,2581967,2537950,2154095,1850507,1657614,1370760,124018,17067581,16808324,15994808,16775314,15452314,10066798,11046155,11603807,12207904,12354939,12421820,12682062,12787561,12853446,14755250,14764729,15070733,15120077,15143060,15218035,15324660,15721744,15826667,15885686,15886351,16118204,16123592,16129784,16169070,16174773,16209941,16247449,16252010,16286470,16630834,16712842,16763556,16874301,16904669,16931761,16997282,17047224,17290220,17310990,17719541,17719543,17803915,17936559,18029035,18082604,18313049,19214209,9488668,12609980,10882101,15276183 7314 AB089617,AC093484,CH471222,X04803,AK129498,AK300882,BC000379,BC009301,BC015127,BC026301,NM_018955,BC031027,BC038999,BC046123,BT020104,CR589965,CR590697,CR607481,CR620731,NG_023320,FB775576 NP_061828,BAC56955,EAX04501,EAX04502,EAX04503,EAX04504,EAX04505,EAX04506,CAA28495,BAG62524,AAH00379,AAH09301,AAH15127,AAH26301,AAH31027,AAH38999,AAH46123,AAV38907,Q5U5U6,P0CG47,CAV30745 Hs.356190 FLJ25987|MGC8385|RPS27A|UBA52|UBC polyubiquitin B|polyubiquitin-B|ubiquitin protein-coding 1347287 UBBP1 ubiquitin B pseudogene 1 3029682,2154095 7315 NG_002284,AC112255,X04801 pseudo 1352261 UBBP2 ubiquitin B pseudogene 2 3029682 23668 NG_002287,AL445428,X04802 pseudo 1349521 UBBP3 ubiquitin B pseudogene 3 3035490,3029682,2154095 23667 NG_002286,AC105402,Y00332 pseudo 1346838 UBBP4 ubiquitin B pseudogene 4 2834222,2154095 23666 NG_002285,AC138761,X07499 pseudo 1346853 UBC ubiquitin C 11827452,16344560,19913121,20628086,11173499,124018,12507430,15466860,15489334,16443603,16541075,16543144,17081983,17203973,17323924,19608861,19754430,3041007,8107144,8166633,15983046,15985429,16000310,16004964,16005295,16009132,16023600,16027725,16038411,16040601,16046550,16049031,16091423,16105874,16107876,16108032,16109713,16115820,16118204,16118278,16118314,16120644,16123593,16126725,16127172,16135753,16168377,16170383,16196087,16199882,16203730,16205628,16219772,16223724,16226749,16227609,16246327,16246840,16247473,16256071,16262255,16269333,16285943,16314389,16314411,16332688,16339847,16352719,16357261,16360037,16397241,16405905,16407162,16407276,16412978,16424018,16424386,16434550,16455660,16479015,16484229,16495483,16497223,16500080,16504566,16510124,16511560,16513638,16537920,16543241,16549805,16569633,16579792,16581786,16582626,16601676,16611863,16616828,16619240,16622418,16643902,16709802,16713579,16714285,16714286,16714300,16720573,16735510,16740632,16740711,16751808,16754685,16757520,16759355,16771824,16799550,16803894,16810318,16818231,16818604,16849322,16862145,16865698,20936779,19094431,17550899,16892003,15893736,14745543,14702039,12923571,12883554,12813030,12610113,12477932,11991975,11872750,11112487,11087860,11087859,9644242,9525617,9504932,9110174,8917096,8619474,2988935,2820408,2564731,1660345,1315303,17067581,16808324,15994808,16775314,14755250,16169070,16189514,12463424,16885233,16901904,16904669,16905103,16914641,16931761,16934752,16936264,16936636,16951159,16954220,16955485,16964240,16964248,16968706,16969069,16979136,16980304,16980628,16983337,16983342,17030191,17038327,17046835,17059562,17069755,17078930,17094949,17098746,17101784,17110958,17113081,17113392,17116753,17135271,17148452,17157253,17157811,17164290,17178836,17183367,17185394,17192413,17196963,17200123,17200151,17210635,17327227,17332776,17337485,17346928,17353186,17353187,17369817,17371868,17372230,17380154,17381423,17382318,17387721,17389601,17392790,17395554,17403672,17406664,17418098,17442268,17449471,17456046,17460694,17462537,17463226,17468759,17470788,17477906,17500067,17502380,17505054,17512523,17512543,17525341,17545148,17558023,17575125,17576800,17579016,17580310,17592138,17595347,17604280,17614368,17630509,17635667,17636022,17646408,17646546,17658474,17662948,17666395,17666399,17670986,17675297,17679095,17681147,17682061,17719543,17719635,17721809,17805301,17822677,17823124,17873020,17875644,17875708,17879958,17891137,17891179,17894482,17898043,17908790,17908927,17923499,17925401,17932042,17936559,17936707,17937819,17938199,17942533,17942705,17947233,17952113,17962190,17962192,17962381,17965458,17965877,17967870,17967871,17971399,17973296,17974989,17980554,17980597,17986383,17987106,17990982,17991829,17995934,18164316,18172167,18174161,18180283,18194665,18195004,18198341,18199748,18206972,18208356,18212060,18212250,18216269,18216283,18222470,18227067,18230607,18239673,18245774,18248624,18254724,18260827,18264029,18276110,18279656,18280659,18284681,18285459,18287044,18287095,18292230,18296647,18298802,18299187,18303015,18303026,18305110,18305400,18309296,18312418,18313049,18316398,18316726,18319061,18321968,18322022,18323779,18326498,18329369,18332868,18334649,18342009,18347055,18348865,18354498,18358244,18359851,18362350,18363970,18367454,18369366,18374639,18378904,18382127,18394702,18407463,18425143,18426857,18426905,18429817,18434302,18448069,18450452,18453590,18457658,18458088,18459963,18467327,18474601,18482987,18485898,18495657,18497827,18498243,18498246,18503636,18508924,18515077,18519587,18519678,18522992,18535780,18541373,18544348,18559494,18566590,18570872,18572193,18573101,18573314,18573876,18577513,18583933,18593948,18599482,18613717,18617513,18617892,18621737,18624796,18628966,18632609,18632619,18632802,18632848,18634786,18636086,18641297,18641638,18644859,18655026,18655187,18671761,18671942,18671972,18672388,18675248,18676613,18680311,18689982,18694926,18695251,18708055,18713730,18716056,18719106,18724939,18757370,18757723,18757741,19733223,19797085,19928833,18544533,10882101,11285280,11931757,12609980,12787561,12791267,15029244,15721744,16997282,15337310,15337528,15337770,15342634,15344906,15345710,15347661,15355978,12135478,12136087,12145204,15003522,15050917,15051726,15064394,15064418,15064742,15082531,15082796,15084312,15090540,15107835,15122316,15123609,15138260,15140882,15145941,15150124,15159412,15171703,15178455,15184379,15210108,15217910,15221015,15228595,15229225,15247280,15252135,15254225,15256223,15257290,15258597,15273251,15276183,15280365,15282312,15282549,15284290,15295102,15304498,15308643,15314155,15314162,15315962,15331590,15331598,15358145,15358619,15361868,15364934,15367667,15367669,15382039,15447663,15448697,15448698,15456872,15465831,15466472,15466852,15468071,15469821,15469925,15475003,15486195,15491992,15492001,15494392,15496141,15509574,15516986,15538384,15572695,15576372,15577829,15601779,15601839,15615716,15618547,15632057,15635092,15640443,15640526,15647282,15665273,15668399,15678106,15684388,15694335,15695403,15699045,15701692,15703212,15708858,15728256,15728840,15735697,15735731,15749826,15776016,15777842,15781469,15782195,15798217,15805113,15805468,15806149,15808853,15809067,15817471,15826667,15831455,15831498,15846104,15855639,15861135,15867377,15882621,15883203,15886205,15899873,15917652,15930137,15944382,15946939,15949444,15958209,15963499,15965468,15965487,15975924,16678111,16684768,16697380,16701206,16702950,17707232,20688984,11231585 7316 AW069329,DB077241,DC395997,NG_027722,AB003730,AB089613,AC126309,CH471054,D63791,AB009010,AB209782,AF052164,AK026846,AK056939,AK097415,AK098827,AK129749,AK291539,AL117514,AY732488,AY819759,BC000449,BC008955,BC014880,BC039193,BC080583,BC093445,BE873233,BU195276,NM_021009,CR611585,CR615117,CR621420,M17597,M26880 P0CG48,NP_066289,BAA23486,BAC56951,EAW98463,EAW98464,EAW98465,EAW98466,BAA09860,BAA23632,BAD93019,BAB71316,BAF84228,CAB55973,AAV33127,AAV68344,AAH08955,AAH14880,AAH39193,AAH80583,AAA36787,AAA36789,Q59EM9,Q5PY61,Q5UGI3,Q66K58,Q96C32,Q96H31,Q96MH4,Q9UFQ0 Hs.520348 HMG20 polyubiquitin-C|ubiquitin C protein-coding 69468 UBD ubiquitin D 724702,1580863 20587610,9368598,19437562,19303852,19185524,19033385,18574467,17971048,17889673,16707496,16495380,16495226,16344560,15831455,15761153,15489334,14757770,14574404,12883554,12730673,12610113,12477932,11991975,11112487,11087860,11087859,10200259,9525617,8662070,17067581,16808324,15994808,16775314,16712791,19028597,19726511,19808075,19851445,19959714,20201098 724702 10537 NM_006398,AL031983,AL645936,AL662826,BX000688,BX927223,CH471081,CR759766,CR759770,CR788300,CR942274,AA878968,AF123050,AK311914,BC012472,CB111380,DB181897,Y12653 NP_006389,CAA21458,CAI17384,CAI18599,EAX03201,CAQ06603,CAQ10041,CAQ10316,AAD52982,BAG34855,AAH12472,CAA73200,O15205,Q5RJ89,ABM85550,CAI18010 Hs.44532 FAT10|GABBR1|UBD-3 diubiquitin|ubiquitin D|ubiquitin-like protein FAT10 protein-coding 1350880 UBDP1 ubiquitin D pseudogene 1 387062 1346006 UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Multiple alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq] 1580863 10908344,11953320,1559696,1717990,16909393,15489334,12776193,12640129,12525704,12477932,11929833,11885984,10884424,9373149,8125298,7821789,20412111,19549727 7319 CR595604,AL701289,BC010175,BC042021,BI093289,CR592668,CR598158,CR598456,CR600075,CR603049,CR608682,CR614387,CR614696,CR616784,CR618296,CR621348,CR622728,D28459,M74524,NM_003336,NM_181762,NM_181777,NG_009267,AC004913,AF455746,CH471161,DQ068065,AK223045,AK223064,AK297696,AK301675,AK313092,HI179118,HI179120,HI179122 BAG35916,AAH10175,BAA05825,AAA35981,P49459,Q53G67,Q53G86,Q8WXB3,ABM84312,ABM87705,NP_003327,NP_861427,NP_861442,AAL58874,EAW89861,EAW89862,EAW89863,AAY46159,BAD96765,BAD96784,BAG60054,BAG63148,CBX53867,CBX53868,CBX53869 Hs.379466 HHR6A|RAD6A|UBC2 HR6A|RAD6 homolog A|ubiquitin carrier protein A|ubiquitin-conjugating enzyme E2 A|ubiquitin-protein ligase A protein-coding 1349526 UBE2B ubiquitin-conjugating enzyme E2B (RAD6 homolog) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. 1600438 1559696,18497339,18385908,18363965,18339854,17050667,16169070,2158443,1883845,1717990,15489334,15359278,14981545,14585983,12477932,11929833,11885984,10908344,10884424,8575614,10373550,12776193,15001359,16824193,17720710,19123975,20378615,19549727,19466589 1600438 7320 NM_003337,AC109454,CH471062,DQ090910,AK312012,BC001694,BC005979,BC008404,BC008470,BT007071,CR407634,CR604876,CR616089,CR625304,M74525,T88933,X53251 NP_003328,EAW62257,EAW62258,AAY68224,BAG34950,AAH05979,AAH08404,AAH08470,AAP35734,CAG28562,AAA35982,CAA37339,P63146,ABM84039,ABM87386 Hs.612096,Hs.644421 E2-17kDa|HHR6B|HR6B|RAD6B|UBC2 E2 protein|OTTHUMP00000223112|OTTHUMP00000223113|RAD6 homolog B|ubiquitin carrier protein B|ubiquitin-conjugating enzyme E2 B|ubiquitin-conjugating enzyme E2-17 kDa|ubiquitin-protein ligase B protein-coding 1313378 UBE2C ubiquitin-conjugating enzyme E2C The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for the destruction of mitotic cyclins and for cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9122200,11285280,15504738,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,18753363,18722180,18666437,18559889,18331723,17354233,17217624,16772118,16106252,15489334,15342556,15208666,12874022,12477932,11927573,11780052,11739784,11549316,16169070,15107846,16712791,19690564,20739533,19913121,20628086,17443180,17443186,17588522,18485873,19302711,19438748,19638491,19657671,19779934,19820702,19822757,20007692,20065091 11065 BF974975,BI858659,BM556795,BM747513,BP227692,BT007300,BT020165,BT020166,BU844974,CB143441,CR456988,CR593952,CR610834,U73379,NM_181802,NM_181799,NM_007019,NM_181800,NM_181803,NM_181801,AL050348,CH471077,AK311949,BC007656,BC016292,BC028161,BC032677,BC050736 AAP35964,AAV38967,AAV38968,CAG33269,AAB53362,O00762,Q5TZN3,AAP36183,ABM83342,ABM86556,ACE87229,ACE86548,NP_861518,NP_861515,NP_008950,NP_861516,NP_861519,NP_861517,EAW75804,EAW75805,EAW75806,EAW75807,EAW75808,EAW75809,BAG34890,AAH07656,AAH16292,AAH50736 Hs.93002 UBCH10|dJ447F3.2 cyclin-selective ubiquitin carrier protein|mitotic-specific ubiquitin-conjugating enzyme|ubiquitin carrier protein C|ubiquitin carrier protein E2-C|ubiquitin-conjugating enzyme E2 C|ubiquitin-protein ligase C protein-coding 1315581 UBE2CBP ubiquitin-conjugating enzyme E2C binding protein 15749827,12477932 90025 AL034377,AL139333,AL357121,AL450483,CH471051,AB126062,AF026526,AK298205,AL137544,BC036049,BC053645,BC057845,BC071763,BC101512,BC101538,BC143617,CR590287,CR598717,CR604323,NM_198920 NP_944602,CAI15281,CAI15282,CAI15283,CAI13739,CAI13740,CAI13741,CAI14200,EAW48677,EAW48678,EAW48679,EAW48680,EAW48681,BAD01604,BAG60475,CAB70802,AAH36049,AAH53645,AAH57845,AAH71763,AAI01513,AAI01539,Q4G0J6,Q4G0X5,Q5T4W1,Q5T4W3,Q7Z6J8 Hs.148609 C6orf157|DKFZp434A1520|H10BH|MGC126561|MGC126587|YJR141W OTTHUMP00000016787|OTTHUMP00000220800|OTTHUMP00000220801|UBCH10 binding protein with a hect-like domain|ubcH10-binding protein with a HECT-like domain|ubiquitin-conjugating enzyme E2C-binding protein protein-coding 1349785 UBE2CP1 ubiquitin-conjugating enzyme E2C pseudogene 1 326105 NG_002528,AL121852 pseudo 1317341 UBE2D1 ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. 1580863 15621726,11285280,14593737,15029244,10072594,10066826,9918797,9362508,9182527,8889548,8530467,8090726,11513855,8576257,14636569,12887909,14638690,12890688,12732733,12485996,12438698,11927591,11278247,15494311,16275645,10793135,11535616,11742988,12070128,10548110,11340163,17373700,16189514,15489334,15139022,14562029,12883554,12670957,12480712,12477932,12393902,11557750,11389839,11274149,10973499,16385451,17337485,17588522,17719635,17873020,18359941,18485199,18508924,18644345,18845142,19053840,19346402,19549727,19690564,19854139,20146531,20347421,9409737,21102463,21113135 7321 CR603407,CR617065,CR619802,CR620939,X78140,NM_003338,AC016396,AC023170,AJ293565,CH471083,AF020761,AF257220,AJ272367,AK291901,BC005980,BC015997,BI598342,BM468116,BM970335,BT007041,CR594114 CAA55019,P51668,ABM84037,ABM87384,NP_003329,CAC82097,EAW54167,EAW54168,EAW54169,EAW54170,AAM81086,CAC82177,BAF84590,AAH05980,AAH15997,AAP35690 Hs.129683 E2(17)KB1|SFT|UBC4/5|UBCH5|UBCH5A UBC4/5 homolog|stimulator of Fe transport|ubiquitin carrier protein D1|ubiquitin-conjugating enzyme E2 D1|ubiquitin-conjugating enzyme E2(17)KB 1|ubiquitin-conjugating enzyme E2-17 kDa 1|ubiquitin-protein ligase D1 protein-coding 69475 UBE2D2 ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Two alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq] 69394,1302873 19913121,20628086,10918611,10848595,10514377,10329681,9182527,8530467,19123975,18784070,10888670,10531035,11676916,11513855,12431996,14562029,12878161,14667819,8090726,9990509,7724550,19240791,18996392,18703417,18508924,16112646,15489334,15280377,15231748,15001359,14702039,14612456,12670957,12477932,12036302,11724934,17363573,17576800,17580310,17588522,17719635,18206970,19043414,19549727,19615732,19690564,20051513,20064473,20152160,20347421,18359941 69394,1302873 7322 NM_003339,AC010378,CH471062,L40146,AF317220,AK001311,AK001428,AK310273,AY651263,BC019052,BC033349,BC048426,CR591688,CR592107,CR594111,CR596483,CR606151,CR607642,CR611730,CR618308,CR622545,CR623635,NM_181838,U39317 NP_862821,NP_003330,EAW62095,EAW62096,EAW62097,AAC41750,AAK93958,BAG50891,BAG50911,AAX35690,AAH33349,AAA91460,P62837,Q96RP6 Hs.108332 E2(17)KB2|PUBC1|UBC4|UBC4/5|UBCH5B OTTHUMP00000223476|OTTHUMP00000223477|OTTHUMP00000223478|ubiquitin carrier protein D2|ubiquitin-conjugating enzyme E2 D2|ubiquitin-conjugating enzyme E2(17)KB 2|ubiquitin-conjugating enzyme E2-17 kDa 2|ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme e2d 2|ubiquitin-protein ligase D2 protein-coding 1344235 UBE2D3 ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Multiple spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq] 14667819,19549727,8090726,15621726,9990509,8530467,18515077,17420285,16344560,15489334,15280377,14702039,12867425,12732733,12670957,12477932,12215439,11927591,11485561,10835356,10329681,9488723,17682061,17965458,18498243,16169070,14562029,16189514,16341674,20696396,14765125,16522193,16628214,17588522,17719635,19690564,20051513,20332099,20347421,20860768 7323 BG613555,NM_181890,NM_181893,NM_181889,NM_181886,NM_003340,NM_181888,NM_181887,NM_181891,NM_181892,AC018797,AF213884,CH471057,AK095822,AK127304,AK315775,AL050186,AL833414,AU131013,AW675390,BC003395,BC037894,BC066917,BM541512,BM750658,BM788287,BQ428985,BU567649,BU570661,CR456916,CR596812,CR608063,CR610934,CR619029,CR620503,CR625720,U39318,DA808523,DB501483 NP_871622,NP_871619,NP_871618,NP_871615,NP_003331,NP_871617,NP_871616,NP_871620,NP_871621,AAF35234,EAX06138,EAX06139,EAX06140,EAX06141,EAX06142,EAX06143,EAX06144,EAX06145,EAX06146,EAX06147,BAC04632,AAH03395,AAH37894,AAH66917,CAG33197,AAA91461,P61077 Hs.518773 E2(17)KB3|MGC43926|MGC5416|UBC4/5|UBCH5C E2(17)KB 3|OTTHUMP00000219556|OTTHUMP00000219558|OTTHUMP00000219561|OTTHUMP00000219562|OTTHUMP00000219563|OTTHUMP00000219564|OTTHUMP00000219566|ubiquitin carrier protein D3|ubiquitin-conjugating enzyme E2 D3|ubiquitin-conjugating enzyme E2(17)KB 3|ubiquitin-conjugating enzyme E2-17 kDa 3|ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)|ubiquitin-protein ligase D3 protein-coding 1626139 UBE2D3P ubiquitin-conjugating enzyme E2D 3 pseudogene 11780052 100037280 NG_006450,AL121755 RP4-680N4|UBE2D3L|UBE2D3P|UBE2D5P pseudo 4144302 UBE2D3P2 ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 2 100130139 AADB02003401,AC126118,ABBA01024855 pseudo 4889632 UBE2D3P4 ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 4 100131800 AL590681,NG_011460 pseudo 1347506 UBE2D4 ubiquitin-conjugating enzyme E2D 4 (putative) 16189514,15489334,15231748,14702039,12690205,12477932,19690564,17207965,19549727 51619 AK056566,AW014299,BG499454,NM_015983,AC004985,CH236951,CH471073,AF125044,AF125045,AK001446,BC004104,CR608137 NP_057067,EAL24010,EAW94178,EAW94179,EAW94180,EAW94181,EAW94182,EAW94183,EAW94184,AAD31180,AAD31181,BAA91697,AAH04104,Q9UQL0,Q9Y2X8,ADQ31771 Hs.19196 FLJ32004|HBUCE1 OTTHUMP00000207576|ubiquitin carrier protein D4|ubiquitin-conjugating enzyme E2 D4|ubiquitin-conjugating enzyme HBUCE1|ubiquitin-protein ligase D4 protein-coding 1603496 UBE2DNL ubiquitin-conjugating enzyme E2D N-terminal like pseudogene 15489334,12477932,19549727 100131816 NR_024062,BC040290 Q8IWF7 Hs.460809 MGC42638 pseudo 1354241 UBE2E1 ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 16428300,14667819,8576257,11285280,14593737,10793135,9990509,11535616,11742988,12070128,10548110,11340163,18845142,18818210,18519031,18439907,15489334,12477932,11395416,11322894,11274149,10991948,10866800,8393731,16169070,18032921,15029244,15001359,16307923,16522193,17588522,18287095,19549727,19664638,19690564 7324 NM_003341,NM_182666,AC020626,AC124914,CH471055,AK314854,BC009139,BF698653,BI223271,CR605474,CR609756,CR622042,CR624061,X92963 NP_003332,NP_872607,EAW64329,EAW64330,EAW64331,EAW64332,EAW64333,BAG37371,AAH09139,CAA63539,P51965 Hs.164853 UBCH6 OTTHUMP00000208307|OTTHUMP00000208308|OTTHUMP00000208309|ubiquitin carrier protein E1|ubiquitin-conjugating enzyme E2 E1|ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)|ubiquitin-protein ligase E1 protein-coding 1346022 UBE2E2 ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast) 737633,1580863 20818381,18029348,16428300,18649358,15545318,15485925,12477932,11786535,11322894,11274149,11237715,10521492,9371400,8889548,7757816,19549727,19690564,18485199,20379614 737633 7325 NM_152653,AC092038,AC104741,AC116992,AC121251,AC135966,CH471055,AK057886,AK307075,BC022332,CB851345,CR592620,CR615770,CR617055 NP_689866,EAW64321,EAW64322,EAW64323,EAW64324,EAW64325,BAB71605,AAH22332,Q96LR5 Hs.475688 FLJ25157|UBCH8 OTTHUMP00000161048|OTTHUMP00000208342|OTTHUMP00000208352|ubiquitin carrier protein E2|ubiquitin-conjugating enzyme E2 E2|ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)|ubiquitin-protein ligase E2 protein-coding 1318925 UBE2E3 ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 14667819,18029348,18614808,16713569,15815621,15761153,19549727,15545318,15489334,15302935,12477932,11809816,11322894,11274149,11042152,10582246,10343118,10187858,9734360,9409737,11389839,15001359,15017387,19690564,20190752,20379614,16341674 10477 NM_182678,NM_006357,AC104076,CH471058,AB017644,AF085362,AK314145,BC003554,BC003687,BC092407,BM762761,BQ932163,BT019345,CR593046,CR603132,CR607535,CR616134,CR621773,CR622410,CR624412 NP_872619,NP_006348,AAY14882,EAX10989,EAX10990,BAA76544,AAD40197,BAG36833,AAH03554,AAH92407,AAV38152,Q969T4 Hs.470804 UBCH9|UbcM2 OTTHUMP00000163407|OTTHUMP00000205276|OTTHUMP00000205277|OTTHUMP00000205278|OTTHUMP00000205280|OTTHUMP00000206310|ubiquitin carrier protein E3|ubiquitin-conjugating enzyme E2 E3|ubiquitin-conjugating enzyme E2-23 kDa|ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)|ubiquitin-protein ligase E3 protein-coding 1605819 UBE2E4P ubiquitin-conjugating enzyme E2E 4 pseudogene 15815621,15545318,15489334,15302935,10343118 286480 NG_004721,AC002524,AF136176 AAP97266 Hs.567831 UbcM2 pseudo 1350782 UBE2F ubiquitin-conjugating enzyme E2F (putative) 19549727,19250909,15815621,15489334,12477932 140739 NM_080678,AC016776,CH471063,AF310723,AK290063,AK293334,AK294107,AK297502,AK303094,BC010549,CR615230,CR620417 NP_542409,AAY24220,EAW71128,EAW71129,EAW71130,EAW71131,EAW71132,EAW71133,EAW71134,AAL26792,BAF82752,BAG56850,BAG57442,BAG59915,BAG64204,AAH10549,Q969M7 Hs.471785 MGC18120|NCE2 NEDD8 carrier protein UBE2F|NEDD8 conjugating enzyme|NEDD8 protein ligase UBE2F|NEDD8-conjugating enzyme 2|NEDD8-conjugating enzyme UBE2F|OTTHUMP00000202749|OTTHUMP00000202755|OTTHUMP00000202756|OTTHUMP00000202760|OTTHUMP00000202761|OTTHUMP00000202762|OTTHUMP00000202763|OTTHUMP00000202765|OTTHUMP00000202766|ubiquitin-conjugating enzyme E2 F|ubiquitin-conjugating enzyme e2f (ubc6 homolog, c. elegans) protein-coding 1353011 UBE2G1 ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq] 8893823,15489334,12933904,12665801,12477932,11439185,11278356,11032556,10558980,10521492,9693041,8393731,17452445,15673284,19549727 7326 NM_003342,AC087742,AC116910,CH471108,CQ840929,AI493944,AK313059,BC002775,BC017006,BC026288,BG703127,BI601205,BT007416,BU161770,CD250951,CR622319,CR623407,D78514,FB353539 NP_003333,EAW90441,EAW90442,EAW90443,EAW90444,EAW90445,EAW90446,CAH05704,BAG35889,AAH02775,AAH26288,AAP36084,BAA11410,P62253,AAP36947,CAR82353 Hs.727591 E217K|UBC7|UBE2G ubiquitin carrier protein G1|ubiquitin-conjugating enzyme E2 G1|ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)|ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)|ubiquitin-conjugating enzyme e2g 1 (ubc7 homolog, c. elegans)|ubiquitin-protein ligase G1 protein-coding 1312541 UBE2G2 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 19690564,17681147,9693041,16780588,17353931,16582478,16407162,15489334,14702039,12869571,12477932,11724934,11278356,11032556,10991948,10830953,10558980,10521492,9925943,8393731,17310145,20014027 7327 BC008351,BC011569,BC017241,BC054341,BE292782,BG702453,BT006914,CR593095,CR622633,BC001738,NM_003343,NM_182688,AL163300,AL773604,CH471079,AF032456,AK075143,AK122700,AK290629,AL834129 AAH01738,AAH08351,AAH11569,AAP35560,P60604,Q8NDD5,NP_003334,NP_872630,CAB90551,EAX09395,EAX09396,EAX09397,EAX09398,EAX09399,EAX09400,AAC32312,BAG53675,BAF83318,CAD38846 Hs.529420,Hs.701398 UBC7 ubiquitin carrier protein G2|ubiquitin conjugating enzyme 7|ubiquitin conjugating enzyme G2|ubiquitin-conjugating enzyme E2 G2|ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)|ubiquitin-protein ligase G2 protein-coding 1320678 UBE2H ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Two alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq] 8132613,18029348,19058789,18855187,15489334,15388255,14722266,14702039,14639049,12853948,12690205,12477932,10860668,8543049,7761435,15107846,19549727,19690564,17588522,19922136,20028976 7328 NM_182697,NM_003344,AC073320,AC084865,CH236950,CH471070,AB451490,AK024519,AK026094,AK091088,AK316590,AL832212,AY302138,BC006277,BT006756,CB995681,Z29328,Z29330,Z29331 NP_874356,NP_003335,AAS07548,EAL24098,EAL24099,EAW83733,EAW83734,EAW83735,EAW83736,EAW83737,BAG70304,AAP57630,AAH06277,AAP35402,CAA82525,CAA82527,CAA82528,P62256,Q75MF5,Q7Z6F4 Hs.643548 E2-20K|UBC8|UBCH|UBCH2 OTTHUMP00000212336|OTTHUMP00000212338|OTTHUMP00000212339|OTTHUMP00000212355|ubiquitin carrier protein H|ubiquitin-conjugating enzyme E2 H|ubiquitin-conjugating enzyme E2-20K|ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)|ubiquitin-protein ligase H protein-coding 2301590 UBE2HP ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) pseudogene 646463 NG_008822,AC009902 UBE2HP pseudo 734464 UBE2I ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1642482,730030,2301343,2301345,1302873 20561671,10383460,10377438,9920803,9855622,9563508,9488727,9334332,9333025,9261152,9257699,9197546,9067428,8921390,8824223,8798754,8798622,8733011,8668529,8668125,15613319,17646165,11583632,17353931,10961991,10380882,14531806,15806172,15592428,9223484,15546615,9514881,10788439,19760037,16029420,19549727,19955185,20016594,20016603,20936779,21047957,9885291,12072434,14516784,16631117,8565643,8610150,19358266,19343802,19287951,18691969,18660489,18655774,18321803,18211895,17987106,17956732,17698038,17671234,17466333,17391059,17297476,17105732,17037517,17005699,16998888,16732283,16730941,16713569,16620772,16566921,16494873,16469311,16455490,16455055,16421094,16248985,16189514,16169070,16154161,15952105,15931224,15881673,15876874,15820677,15735760,15723523,15666801,15635413,15616553,15611122,15608651,15588942,15489334,15378033,15327968,15246872,15231748,15210726,15192080,15087395,14765993,14752048,14702039,14609633,14578449,14556380,14517060,12924945,12813045,12761287,12679040,12641448,12633878,12621041,12620973,12615929,12477932,12419227,12356736,12200128,12192048,12177000,12150977,12110916,12082530,12023963,12021447,11960997,11927605,11877416,11853669,11842083,11812797,11792325,11779867,11735126,11451954,11447110,11367701,11278694,11278381,11157797,11112409,11085938,11025202,10806190,10759568,10737800,10694430,10655495,10535925,10497239,12354770,12674497,15604093,15896780,16098147,17036045,17087506,17491593,17533377,18628979,19640976,19684601,19744555,19765634,19836047,19859084,20023705,18946085,20863840,16421255,18625722,20209145 1642482,730030,2301343,2301345,1302873 7329 BT007010,BU146357,BU543455,CD249028,CR590087,CR603776,CR604763,D45050,U29092,U31882,U31933,U38785,U45328,U66818,U66867,X96427,NM_194260,NM_194259,NM_003345,AC120498,AE006466,AL031714,CH471112,AB208988,AJ002385,AK024172,AK093616,AK291118,AL833737,BC000427,BC000744,BC004429,BC004437,BC014997,BC051289,BE262845,BI523501,BQ230918,BQ358820,BT006932,NM_194261,HC437980,HC449951 AAP35578,AAP35656,BAA08091,AAC51361,AAC50603,AAB02181,AAB09410,AAA86662,AAC50715,AAC50716,CAA65287,P63279,Q7KZS0,ABM82299,ABM85478,NP_919237,NP_919236,NP_919235,NP_003336,AAK61274,CAB45853,EAW85673,EAW85674,EAW85675,EAW85676,EAW85677,EAW85678,EAW85679,BAD92225,CAA05359,BAF83807,AAH00427,AAH04429,AAH51289,CBJ93564,CBK25700 Hs.302903 C358B7.1|P18|UBC9 OTTHUMP00000198131|SUMO-1-protein ligase|SUMO-conjugating enzyme UBC9|SUMO-protein ligase|ubiquitin carrier protein 9|ubiquitin carrier protein I|ubiquitin conjugating enzyme 9|ubiquitin-conjugating enzyme E2 I|ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)|ubiquitin-conjugating enzyme UbcE2A|ubiquitin-conjugating enzyme e2i|ubiquitin-like protein SUMO-1 conjugating enzyme|ubiquitin-protein ligase E2I|ubiquitin-protein ligase I protein-coding 1312877 UBE2J1 ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq] 1580863 12082160,11042152,10810093,10708578,9373149,8125298,16720581,15861135,15489334,14574404,12477932,11439185,20222955,19549727,19690564 51465 AL121833,AL138717,AL139804,CH471051,AB075487,AF151039,AF151834,AF161502,AJ245898,AJ420479,AJ420522,AJ420578,AJ420600,AK223464,AK290574,AK300629,BC013973,BF058850,CR593056,CR608832,CR618158,NM_016021,U93243 NP_057105,CAH70228,CAI19635,EAW48555,EAW48556,AAF36125,AAD34071,AAF29117,CAB83212,BAD97184,BAF83263,BAG62320,AAH13973,AAF21505,Q53F25,Q9Y385,ABM86070,ABW03768 Hs.163776 CGI-76|HSPC153|HSPC205|HSU93243|MGC12555|NCUBE-1|NCUBE1|Ubc6p HSUBC6e|non-canonical ubiquitin-conjugating enzyme 1|non-canonical ubquitin conjugating enzyme 1|ubiquitin-conjugating enzyme E2 J1|yeast ubiquitin-conjugating enzyme UBC6 homolog E protein-coding 1343973 UBE2J2 ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq] 1580863 16341674,16303743,14702039,12477932,11278356,8393731,19549727,20061386 118424 NM_194457,NM_194458,NM_058167,NM_194315,AL162741,CH471183,AF296658,AK056065,AK075017,AK098803,AK291935,AL555293,AW411508,BC027728,BC052579,BC094777,BC104890,BC113430,BC143657,BE382927,BE515187,BG112933,BG499172,BG717336,BM544827,BM765278,BM794599,BM926567,BQ881730,CR590185,CR592102,CR598255,CR601173,CR605285,CR607169,CR610022,CR612438 EAW56258,NP_919439,NP_919440,NP_477515,NP_919296,CAI23257,CAI23258,CAI23259,CAM12828,EAW56255,EAW56256,EAW56257,EAW56259,EAW56260,EAW56261,EAW56262,EAW56263,EAW56264,EAW56265,EAW56266,EAW56267,AAK52609,BAB71086,BAC11355,BAF84624,AAH94777,AAI04891,AAI13431,AAI43658,Q8N2K1,Q9P1E8,ADR83504 Hs.191987 NCUBE-2|NCUBE2|PRO2121 OTTHUMP00000001908|OTTHUMP00000002077|non-canonical ubiquitin-conjugating enzyme 2|ubiquitin conjugating enzyme 6|ubiquitin conjugating enzyme E2, J2|ubiquitin-conjugating enzyme E2 J2|yeast UBC6 homolog protein-coding 1323181 UBE2K ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast) The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq] 19549727,17353931,16714285,8702625,17873885,17092742,16868077,16344560,15489334,15383276,14702039,12665801,12477932,11513855,10675012,10634809,10222105,9857030,9535861,9700202,18691969,20537984,17719635 3093 NM_005339,NM_001111112,NM_001111113,AC105287,AC108471,CH471069,AB022435,AB022436,AK093533,AK291454,AK295846,AK307130,AK315524,AL117568,BC022804,BC050600,BU622273,BX641089,CR605719,CR606205,CR621318,CX786829,DA526283,U58522 NP_005330,NP_001104582,NP_001104583,EAW92946,EAW92947,EAW92948,EAW92949,EAW92950,BAA78555,BAA78556,BAG52736,BAF84143,BAG58654,BAG37905,AAH22804,AAH50600,AAC50633,P61086,ABZ92425 Hs.725263,Hs.50308 DKFZp564C1216|DKFZp686J24237|E2-25K|HIP2|HYPG|LIG E2(25K)|HIP-2|OTTHUMP00000218440|huntingtin interacting protein 2|huntingtin-interacting protein 2|ubiquitin carrier protein|ubiquitin-conjugating enzyme E2 K|ubiquitin-conjugating enzyme E2(25K)|ubiquitin-conjugating enzyme E2-25 KDA|ubiquitin-conjugating enzyme E2-25K|ubiquitin-protein ligase protein-coding 1346213 UBE2L1 ubiquitin-conjugating enzyme E2L 1 8563171,10760570 7330 AL158801,NG_003101,AJ007635,S81005 L-UBC|UBC4|UBCL|UBEL1 pseudo 1350715 UBE2L2 ubiquitin-conjugating enzyme E2L 2 8672131 7331 1318085 UBE2L3 ubiquitin-conjugating enzyme E2L 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 20601676,16735510,19549727,20139978,8563171,8576257,9990509,8672131,18996392,18805400,16703398,16169070,15489334,15461802,15107846,14702039,12794086,12732733,12620973,12612082,12477932,12215439,11278816,11274149,11237715,11078524,10966114,10760570,10558980,10531381,10521492,10431818,9693040,8144544,16356860,14623119,12234920,17353931,9153201,10888878,14765125,15367689,16118314,16427630,16709802,17003263,17588522,17719543,17996703,18498246,18946090,19838193,20039703,20190752,20962850,21068098,21102463 7332 NM_003347,AP000553,AP000558,CH471095,AJ000519,AK125396,AK291083,AK293179,AK299985,AK311761,BC053368,BU584304,CD690076,CR456606,CR591815,CR593455,CR594871,CR597825,CR602038,CR602465,CR604504,CR606832,CR607527,CR607714,CR607739,CR608960,CR609123,CR609763,CR610403,CR611646,CR611871,CR612269,CR615420,CR616187,CR618384,CR622922,CR625640,CR626405,S81003,X92962,NR_028436,NR_028437,HC309816 NP_003338,EAW59459,EAW59460,CAA04156,BAF83772,BAG56722,BAG61806,BAG34704,AAH53368,CAG30492,AAB36017,CAA63538,P68036,CAK54633,CAK54932,CBJ21215 Hs.108104,Hs.603229 E2-F1|L-UBC|UBCH7|UbcM4 ubiquitin carrier protein L3|ubiquitin-conjugating enzyme E2 L3|ubiquitin-conjugating enzyme E2-F1|ubiquitin-conjugating enzyme UBCH7|ubiquitin-protein ligase L3 protein-coding 1345330 UBE2L4 ubiquitin-conjugating enzyme E2L 4 10760570,9605847 7333 NG_001209,AC008752,Y09515 pseudo 2303330 UBE2L5P ubiquitin-conjugating enzyme E2L 5 pseudogene 171222 NG_001319,AF352693,AL161893 UBCH7N2|UBE2L5 pseudo 1317456 UBE2L6 ubiquitin-conjugating enzyme E2L 6 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 19549727,14702039,12121982,12075357,11786535,11237715,11078524,10894956,10866800,10558980,10521492,16427630,16709802,19690564,19928833,10085091,9153201,18029348,18583345,16583136,15670748,15131269,15107846,12477932,20508617,18057259 9246 NM_198183,NM_004223,AJ243268,AP002893,CH471076,AF031141,AF061736,AK093462,AK129621,AK226165,AK315755,BC032491,CR457126,CR601863,CR609116 NP_937826,NP_004214,CAB64566,EAW73755,EAW73756,EAW73757,EAW73758,EAW73759,AAB86433,AAD17525,BAG38109,AAH32491,CAG33407,O14933,ABM82217,ABM85401 Hs.425777 MGC40331|RIG-B|UBCH8 retinoic acid induced gene B protein|retinoic acid-induced gene B protein|ubiquitin carrier protein L6|ubiquitin-protein ligase L6|ubiquitin/ISG15-conjugating enzyme E2 L6 protein-coding 1345214 UBE2L7P ubiquitin-conjugating enzyme E2L 7 pseudogene 283556 NG_002490,AF300336,AF352694,AL158801 UBCH7N3|UBE2L7 pseudo 1316910 UBE2M ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq] 1559272 16735510,19549727,10722740,10207026,19250909,15361859,15694336,9694792,18826954,17353931,16620772,15489334,12522145,12477932,10828074,16341674,17643375,6464 1559272 9040 NM_003969,AC016630,CH471135,AB012191,AF075599,AL569047,BC058924,BM559596,BM798750,BT006754,BU508830,BX342697,CR592285,CR597325,CR599501,CR600769,CR602537,CR604136,CR611045,CR614452,CR617667,CR623679,CR625272 NP_003960,EAW72612,EAW72613,BAA33145,AAC26141,AAH58924,AAP35400,P61081 Hs.406068 UBC-RS2|UBC12|hUbc12 NEDD8 carrier protein|NEDD8 protein ligase|NEDD8-conjugating enzyme Ubc12|ubiquitin carrier protein M|ubiquitin-conjugating enzyme E2 M|ubiquitin-protein ligase M|yeast UBC12 homolog protein-coding 1602247 UBE2MP1 ubiquitin-conjugating enzyme E2M pseudogene 1 606551 NR_002837,AC023824,CR599143 Hs.646441 pseudo 1348630 UBE2N ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq] 20546612,17942533,17709375,16396496,16307917,16215985,16112642,15749714,15489334,15231748,14702039,14562038,12881723,12705856,12569095,12477932,12039045,11473255,11473244,11057907,10089880,8889548,17994549,18316726,18178771,18032921,14695475,16122702,17349954,15125833,16129784,8902611,16130169,19651615,19269966,19165527,19034380,18391951,18077395,15147900,17000756,17060341,17135271,19203578,19340006,19465916,19549727,19615732,19690564,21048031,15276183,17997719 7334 NM_003348,AC025260,CH471054,E12457,AK098233,AL110140,BC000396,BC003365,BC108704,BI459891,BT006873,CB243041,CR592204,CR594944,CR595779,CR598187,CR599550,CR620151,D83004 NP_003339,EAW97480,EAW97481,EAW97482,AAH00396,AAH03365,AAI08705,AAP35519,BAA11675,P61088,ABM87762,ABW03914,ABW03917 Hs.524630 MGC131857|MGC8489|UBC13|UbcH-ben bendless-like ubiquitin conjugating enzyme|bendless-like ubiquitin-conjugating enzyme|ubiquitin carrier protein N|ubiquitin-conjugating enzyme E2 N|ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)|ubiquitin-protein ligase N|yeast UBC13 homolog protein-coding 1343621 UBE2NL ubiquitin-conjugating enzyme E2N-like 15772651,17643375,20736409 389898 NM_001012989,AL109622,NG_016268,GU727624 NP_001013007,CAB72341,Q5JXB2,ADU87626 Hs.585177 Li174 putative ubiquitin-conjugating enzyme E2 N-like protein-coding 1352894 UBE2NP1 ubiquitin-conjugating enzyme E2N pseudogene 1 317770 1606786 UBE2O ubiquitin-conjugating enzyme E2O 16344560,15862967,15489334,14702039,12522145,12477932,11311559,11214970,9373149,8125298,19549727,19615732,20237496 63893 NM_022066,AC015802,AC090699,CH471099,AB051521,AK000926,AK022940,AK024657,AK025999,AK225412,AL832432,BC004525,BC007822,BC022237,BC025977,BC036820,BC051868,DA092358 NP_071349,EAW89395,EAW89396,EAW89397,EAW89398,EAW89399,BAB21825,BAB14320,BAB14948,BAB15313,CAH10644,AAH04525,AAH22237,AAH25977,AAH36820,AAH51868,Q9C0C9 Hs.16130 E2-230K|FLJ12878|KIAA1734 ubiquitin carrier protein O|ubiquitin-conjugating enzyme E2 O|ubiquitin-conjugating enzyme E2 of 230 kDa|ubiquitin-conjugating enzyme E2-230K|ubiquitin-protein ligase O protein-coding 1313256 UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq] 1580863 16275660,16710414,15489334,14702039,12477932,12107410,11230159,18511602,19549727,19690564 55585 BC061583,BC070158,BC087836,BC107057,BC148185,BQ278712,CA391436,CR457219,CR597936,CR608922,CR613113,CR620497,CR624734,NM_017582,AL592078,CH471121,AF116721,AJ243666,AK056388,AK293986,AY112698,AY948200,BC000848,BC009286,BC015316 AAH61583,AAH70158,AAH87836,AAI07058,AAI48186,CAG33500,Q29SN7,Q7Z7E8,AAI72317,AAH15316,NP_060052,CAI16186,EAW53193,AAF71141,CAB65097,BAB71173,BAG57353,AAM60814,AAY23342,AAH00848 Hs.607928 GTAP|NICE-5|PRO3094|UBE2Q galactosyl transferase-associated protein|protein NICE-5|ubiquitin carrier protein Q1|ubiquitin-conjugating enzyme E2 Q1|ubiquitin-conjugating enzyme E2Q (putative) 1|ubiquitin-conjugating enzyme e2q (putative)|ubiquitin-protein ligase Q1 protein-coding 1605308 UBE2Q2 ubiquitin-conjugating enzyme E2Q family member 2 19549727,19690564,17207965,17471241,16300736,15489334,12477932,19723876,20193842,20383146 92912 NM_173469,NM_001145335,AC019294,AC027104,CH471136,AA476260,AK000617,AK294199,AK296234,AL117641,AL832429,BC006827,BC017708,BC034342,CR619639 NP_775740,NP_001138807,EAW99233,EAW99234,ADQ32710,BAG57513,BAH12288,CAH10654,AAH06827,AAH17708,AAH34342,Q8WVN8 Hs.23033 DKFZp762C143 ubiquitin carrier protein Q2|ubiquitin-conjugating enzyme E2 Q2|ubiquitin-protein ligase Q2 protein-coding 2816376 UBE2Q2P2 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2 12477932,15146197,16344560 100134869 AC135995,AC139425,BC066934,CN343524,DA778756,NR_004847 Hs.641964 MGC87249|UBE2QP2 pseudo 3231869 UBE2Q2P3 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 3 16344560 100133144 AC011295,BI916968,BQ549460,DA527368,NR_024474 Hs.726926 pseudo 2837480 UBE2Q2P4Y ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked 100421716 AC012005,NG_021926 UBE2Q2PY1 pseudo 4108527 UBE2Q2P5Y ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked 100421717 NG_004755,AC006328 UBE2Q2PY2 pseudo 2798685 UBE2QL1 ubiquitin-conjugating enzyme E2Q family-like 1 8889548,12477932,14702039 134111 AK308577,BC127723,BC150554,BU726418,CH471102,NM_001145161,AB188494,AC093307,AK057805,AK096612 A1L167,AAI27724,AAI50555,EAX08109,NP_001138633 Hs.126856 FLJ25076|FLJ39293 ubiquitin-conjugating enzyme E2Q family-like 1|ubiquitin-conjugating enzyme E2Q-like protein 1 protein-coding 1321905 UBE2R2 ubiquitin-conjugating enzyme E2R 2 Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq] 1580863 15489334,15164053,15146197,14702039,12477932,12037680,10737800,9373149,8125298,19549727,19851296,20198315,20379614 54926 NM_017811,AL139113,CH471071,AA397839,AJ240087,AK000426,AK225880,AL133827,AW966809,BC004862,BC038356,BC047584,BI061548,BI908167,BQ432410,CD515389,CN310827,CN427315,CR457233,CR592127,CR606642,CR626708 NP_060281,CAI39656,EAW58478,EAW58479,EAW58480,CAC80336,BAA91156,AAH04862,AAH47584,CAG33514,Q712K3 Hs.725177 CDC34B|FLJ20419|MGC10481|UBC3B E2-CDC34B|ubiquitin carrier protein R2|ubiquitin-conjugating enzyme E2 R2|ubiquitin-conjugating enzyme E2-CDC34B|ubiquitin-conjugating enzyme UBC3B|ubiquitin-protein ligase R2 protein-coding 1343646 UBE2S ubiquitin-conjugating enzyme E2S This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq] 1580863 18780286,16201836,15489334,15146197,12477932,1379239,17207965,17643375,19083192,19820702,19822757,20080579,19549727 27338 NM_014501,AC020922,CH471135,DQ120718,AB062397,BC004236,BC007554,BC065364,BC066948,CA421746,CN305224,CR594048,CR596308,CR611408,CR618880,CR622781,CR626565,M91670 NP_055316,EAW72377,ABC40675,BAB93484,AAH04236,AAH07554,AAH65364,AAH66948,AAA58446,Q16763,Q2QD04,Q6NXQ4,ADQ33000 Hs.396393 E2-EPF|E2EPF|EPF5 E2-EPF5|ubiquitin carrier protein S|ubiquitin-conjugating enzyme E2 S|ubiquitin-conjugating enzyme E2-24 kD|ubiquitin-conjugating enzyme E2-24 kDa|ubiquitin-conjugating enzyme E2-EPF5|ubiquitin-protein ligase S protein-coding 1604198 UBE2SP1 ubiquitin-conjugating enzyme E2S pseudogene 1 246719 NG_001583,AC005324 pseudo 1606013 UBE2T ubiquitin-conjugating enzyme E2T (putative) The covalent conjugation of ubiquitin to proteins regulates diverse cellular pathways and proteins. Ubiquitin is transferred to a target protein through a concerted action of a ubiquitin-activating enzyme (E1), a ubiquitin-conjugating enzyme (E2), such as UBE2T, and a ubiquitin ligase (E3) (Machida et al., 2006 [PubMed 16916645]).[supplied by OMIM] 19549727,19690564,18029348,19111657,16916645,16710414,15489334,14702039,12477932,11042152,10931946,18667844,19589784,19887602 29089 NM_014176,AL356953,CH471067,CS063588,AB032931,AF160215,AF161499,AK000504,AY542309,BC004152,BC019284,BG776416 NP_054895,CAI15933,EAW91411,EAW91412,EAW91413,EAW91414,EAW91415,CAI84529,BAA93711,AAF67016,AAF29114,BAA91211,AAT08178,AAH04152,AAH19284,Q9NPD8,ABM83655,ABM86901 Hs.5199 HSPC150|PIG50 HSPC150 protein similar to ubiquitin-conjugating enzyme|cell proliferation-inducing gene 50 protein|ubiquitin carrier protein T|ubiquitin conjugating enzyme|ubiquitin-conjugating enzyme E2 T|ubiquitin-protein ligase T protein-coding 1606149 UBE2U ubiquitin-conjugating enzyme E2U (putative) 16710414,15489334,12477932,19690564,19549727 148581 NM_152489,AL161916,AL445205,CH471059,BC029895 NP_689702,CAI22119,CAI22120,CAH71707,CAH71708,EAX06552,EAX06553,EAX06554,AAH29895,Q5VVX9,ABM82238,ABM85422 Hs.388746 MGC35130|RP4-636O23.1 ubiquitin carrier protein U|ubiquitin-conjugating enzyme E2 U|ubiquitin-protein ligase U protein-coding 1346082 UBE2V1 ubiquitin-conjugating enzyme E2 variant 1 Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Multiple alternatively spliced transcripts encoding different isoforms have been described for this gene. A pseudogene has been identified which is also located on chromosome 20. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq] 16129784,9305758,9418904,10089880,17709375,17041755,16893187,15489334,14702039,12477932,11780052,11280764,11076860,11076848,11057907,9771976,9705497,9580084,17207965,16307917,19549727,12481031,16236267,17135271,15276183 7335 BC005215,BC008944,BU540046,BU595183,BU934624,BX647511,BX648147,CA453411,U39360,U97279,U97280,U97281,NM_199144,NM_022442,NM_001032288,AL034423,CH471077,AF049671,AK314754,AL110132,AY008273,NM_021988,BC000468,BT007382,CR596196,CR597636,CR600012,CR604443,CR609580,CR610565,CR612804,CR615402,CR615526,CR617021,CR617407,CR620542,CR622665,CR622818,CR624783 AAH08944,AAB72015,AAC02780,AAC02755,AAC02756,Q13404,Q5TGE1,ADQ33153,NP_068823,NP_954595,NP_071887,NP_001027459,CAB76865,CAC16954,CAI19383,EAW75634,EAW75635,EAW75636,EAW75639,AAG24229,AAH00468,AAP36046 Hs.420529,Hs.727525 CIR1|CROC-1|CROC1|UBE2V|UEV-1|UEV1|UEV1A DNA-binding protein|TRAF6-regulated IKK activator 1 beta Uev1A|ubiquitin-conjugating enzyme E2 variant 1 protein-coding 1352007 UBE2V1P1 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1 170556 NG_001061,AL117334 dJ687F11.3 pseudo 2301121 UBE2V1P2 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 2 730052 NG_008616,AC119744 pseudo 2794509 UBE2V1P3 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 3 12815422,9847074 359798 AC012078,NG_002821 pseudo 1318163 UBE2V2 ubiquitin-conjugating enzyme E2 variant 2 Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq] 1580863 11473255,16786304,17349954,9418904,10089880,16129784,18284681,18178771,17964296,16169070,15952783,15749714,15725630,15489334,14702039,14695475,14562038,12665801,12477932,11473244,9705497,9199207,18316726,19549727,20029029 7336 AC021236,CH471068,DQ003720,AF049140,AK094617,AK313447,BC007051,BC016332,BC016710,BC028673,NM_003350,BC062418,BT006744,CR407628,CR603464,CR603543,U62136,X98091 NP_003341,EAW86687,EAW86688,EAW86689,EAW86690,AAY16979,AAC05381,BAG36236,AAH07051,AAH16332,AAH16710,AAH28673,AAH62418,AAP35390,CAG28556,AAB04758,CAA66717,Q15819,ABM83433,ABM86647,ABW03321,ABW03463,ABW03497 Hs.491695 DDVIT1|DDVit-1|EDAF-1|EDPF-1|EDPF1|MMS2|UEV-2|UEV2 1 alpha,25-dihydroxyvitamin D3-inducible|DDVit 1|MMS2 homolog|enterocyte differentiation promoting factor|enterocyte differentiation-associated factor 1|enterocyte differentiation-associated factor EDAF-1|enterocyte differentiation-promoting factor 1|methyl methanesulfonate sensitive 2, S. cerevisiae, homolog of|ubiquitin-conjugating enzyme E2 variant 2|vitamin D3-inducible protein protein-coding 1605362 UBE2W ubiquitin-conjugating enzyme E2W (putative) 19690564,16368532,15489334,14702039,12477932,9373149,8125298,16169070,19549727 55284 NM_018299,NM_001001481,AC022826,AC022868,CH471068,AK001873,AK021735,AK024050,AK225554,AK295792,AY948289,BC010900,BC016326,BX538145,BX648427,CR457275,CR597814,CR609430 NP_060769,NP_001001481,EAW87009,EAW87010,EAW87011,EAW87012,BAA91954,BAB13883,BAB14800,BAG58613,AAY24555,AAH10900,AAH16326,CAG33556,Q1XBE0,Q96B02,Q96FI0,ABZ92026 Hs.561815 FLJ11011|hUBC-16 probable ubiquitin-conjugating enzyme E2 W|ubiquitin carrier protein W|ubiquitin-conjugating enzyme 16|ubiquitin-protein ligase W protein-coding 1606510 UBE2Z ubiquitin-conjugating enzyme E2Z Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE2Z is an E2 enzyme (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM] 18029348,17597759,17160626,16344560,16189514,15761153,15489334,14702039,12477932,16169070,19549727,19690564 65264 AA845421,NM_023079,AC091133,CH471109,AA843379,AB025426,AK023917,AK024030,AK091644,AK122770,AK130303,AK296865,AL713782,BC015169,BC015890,CR457322,DA928380,EF623992 NP_075567,EAW94701,EAW94702,EAW94703,EAW94704,BAB87810,BAB14724,BAB14789,BAG59428,CAD28542,AAH15169,AAH15890,CAG33603,ABR25252,Q9H832 Hs.514297 FLJ13855|HOYS7|USE1 UBA6-specific enzyme E2|uba6-specific E2 conjugating enzyme 1|ubiquitin carrier protein Z|ubiquitin-conjugating enzyme E2 Z|ubiquitin-protein ligase Z protein-coding 1314934 UBE3A ubiquitin protein ligase E3A This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq] 1358469,1358255,1580863,1358256 20157568,16493710,8988171,8221889,19276448,19233847,19213023,19204938,19194825,19086053,19058789,18612801,18487518,18361419,18298802,18256157,18201976,18193166,18186074,17942561,17765640,17657785,17131388,17108031,17085449,16951183,16905559,16713569,15175323,9182527,12890688,9153201,17962381,16708385,16546135,16482544,16314411,15862967,15731267,15655249,15615769,15231748,15054837,14981718,14702039,12725589,12620801,12609982,12481031,12477932,12207887,12095913,12075004,11748306,11460706,11170455,11149944,10983987,10558980,10508479,10449731,10066826,9990509,9891052,9852095,9792887,9688277,9585605,9465301,9369221,9288088,9288087,9143503,8576257,8380895,19325566,19557195,19700180,19723394,20034088,20039703,20167600,20351251,21044367,20635355 1358469,1358255,1358256 7337 NM_000462,NM_130838,NG_002690,NG_009268,AC100774,AC124997,AF009339,AF009340,AF009341,AF016708,AJ001107,AJ001108,AJ001109,AJ001110,NM_130839,AJ001111,AJ001112,AJ001113,CH471151,X98021,X98037,AB194232,AF002224,AF002225,AF273050,AI378869,AK056239,AK130491,AK291405,AK292514,AL049363,AL831842,BC002582,BC009271,L07557,U84404,X98031,X98032,X98033 CAA04537,NP_570854,NP_000453,NP_570853,AAC39580,AAB69154,CAA04534,CAA04535,CAA04536,CAA04538,CAA04539,CAA04540,EAW57642,EAW57643,EAW57644,EAW57645,CAA66653,BAD69553,BAD69554,AAG34910,BAF84094,BAF85203,AAH02582,AAH09271,AAA35542,AAB49301,CAA66654,CAA66655,CAA66656,Q05086,Q5W7F7,Q5W7F8,Q96GR7,Q9BUI6,Q9H2G0,Q9UBN9 Hs.598862 ANCR|AS|E6-AP|EPVE6AP|FLJ26981|HPVE6A CTCL tumor antigen se37-2|E6AP ubiquitin-protein ligase|human papilloma virus E6-associated protein|human papillomavirus E6-associated protein|oncogenic protein-associated protein E6-AP|renal carcinoma antigen NY-REN-54|ubiquitin-protein ligase E3A protein-coding 1350282 UBE3AP1 ubiquitin protein ligase E3A pseudogene 1 9465301 7338 AC092683,NG_002381,AC159540,AF010598 pseudo 1346140 UBE3AP2 ubiquitin protein ligase E3A pseudogene 2 10830953,9465301 7339 NG_001210,AF010599,AP000245 pseudo 1350438 UBE3B ubiquitin protein ligase E3B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family. The encoded protein may interact with other proteins and play a role in stress response. Alternatively spliced transcript variants encoding the same protein isoform have been identified for this gene. [provided by RefSeq] 1580863 17672918,15489334,14702039,12837265,12689446,12477932,11483580,10962193,20864672,20379614 89910 NM_130466,NM_183415,AC007570,CH471054,AF130072,AF251046,AK022019,AK056015,AK127227,AK304678,AK307385,AL096740,BC013182,BC020348,BC032301,BC040155,BC051266,BC068221,BC108705,BC141880,BC144684,BC150637,BX537403,CR600136,CR601612,CR613548,CR614569,CR616108 NP_569733,NP_904324,EAW97865,EAW97866,EAW97867,EAW97868,AAK28419,BAG65450,CAH56410,AAH32301,AAH51266,AAH68221,AAI08706,AAI41881,AAI50638,CAD97645,Q7Z3V4 Hs.374067 DKFZp586K2123|DKFZp686A1051|FLJ45294|MGC131858|MGC78388 ubiquitin-protein ligase E3B protein-coding 1348358 UBE3C ubiquitin protein ligase E3C 1580863 19913121,20628086,7584026,20934631,11278995,12692129,16344560,15489334,12853948,12690205,12477932,7584028,19197348,19846067 9690 NM_014671,AC004898,AC004975,CH236954,CH471149,AA596042,AK127280,AK295138,BC014029,BC026241,CD366848,D13635,DB085748,DB454915 NP_055486,AAD51453,EAL23922,EAX04567,EAX04568,EAX04569,BAG58161,AAH14029,AAH26241,BAA02799,Q15386 Hs.118351 KIAA0010|KIAA10 ubiquitin-protein isopeptide ligase (E3)|ubiquitin-protein ligase E3C protein-coding 1351066 UBE4A ubiquitination factor E4A (UFD2 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. [provided by RefSeq] 1580863 17353931,10089879,18069675,17553343,15611659,15489334,15019985,12665801,12477932,11802788,8590280,7829101,19690564,15189447,19805293 9354 NM_004788,AP001267,AP001582,CH471065,AF087968,AK296369,AK302328,AK307737,AL713515,AW021567,AW290969,BC010938,BC030973,BC039240,BC052643,BC062695,BC111417,BC112367,BU167020,D50916,EF445042 NP_004779,EAW67371,BAG59044,BAH13676,AAH30973,AAH52643,AAH62695,AAI11418,AAI12368,BAA09475,Q05BZ7,Q14139,EAW67372,ACA06094 Hs.75275,Hs.602967 E4|KIAA0126|MGC133315|UBOX2|UFD2 homologous to yeast UFD2|ubiquitin conjugation factor E4 A|ubiquitination factor E4A (homologous to yeast UFD2) protein-coding 1312355 UBE4B ubiquitination factor E4B (UFD2 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 16170377,11802788,18418053,17081983,16870146,16710414,16344560,15489334,15466860,15302935,14702039,12700669,12504083,12477932,10980605,20696396,10089879,9734811,9653645,20676096,15189447,19805293 10277 NM_001105562,NM_006048,AL096841,AL590639,CH471130,AB014584,BC143460,CR603512,DA476510,AB028839,AF043117,AF091093,AF331520,AK023654,AK292444,AK304484,BC047890,BC093696,BC143458,BQ001243 NP_001099032,NP_006039,CAI21859,CAI21860,CAI14686,CAI14687,CAI14688,EAW71639,EAW71640,O95155,BAA31659,BAB40446,AAD02233,AAC72962,AAK69622,BAF85133,BAG65294,AAH93696 Hs.593974 E4|HDNB1|KIAA0684|UBOX3|UFD2|UFD2A homologous to yeast UFD2|homozygously deleted in neuroblastoma 1|homozygously deleted in neuroblastoma-1|ubiquitin conjugation factor E4 B|ubiquitin fusion degradation protein 2|ubiquitin-fusion degradation protein 2|ubiquitination factor E4B (homologous to yeast UFD2) protein-coding 1606788 UBFD1 ubiquitin family domain containing 1 14702039,10493829,12477932 56061 NM_019116,AC002400,AC008870,CH471145,AK025656,BC007880,BC011830,AK092696,AK096189,AK124139,BC001413 NP_061989,AAC05812,EAW55817,EAW55818,EAW55819,O14562,BAG52599,BAG54014 Hs.3459 FLJ38870|FLJ42145|UBPH ubiquitin domain-containing protein UBFD1|ubiquitin-binding protein homolog protein-coding 1603400 UBIAD1 UbiA prenyltransferase domain containing 1 This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq] 11314041,19429578,19394700,18176953,17962451,17960116,16710414,16303743,15782423,15489334,12497587,12477932,9373149,8894705,8125298,20953171,17668063,19649163,20489584,20505825 29914 NM_013319,NG_009443,AL031291,AL049653,CH471130,CQ784038,AA505091,AF117064,AK074890,AK222808,BC004468,BT006832,BX507524,CR606264 NP_037451,CAI22837,CAI22838,EAW71686,CAF86981,AAD27581,BAG52025,BAD96528,AAH04468,AAP35478,Q9Y5Z9 Hs.522933 RP4-796F18.1|SCCD|TERE1 transitional epithelia response protein|transitional epithelial response protein 1|ubiA prenyltransferase domain-containing protein 1 protein-coding 1343282 UBL2 ubiquitin-like 2 9671742 8457 1313456 UBL3 ubiquitin-like 3 1580863 11256614,16831869,16381901,16344560,15489336,15489334,15057823,14702039,12477932,11230166,11076863,10375635,20460270,20379614 5412 NM_007106,AL138684,AL139188,AL158193,CH471075,AF044221,AK056580,AK307361,AK309253,AK311846,AL080177,BC044582,BC059385,BM453277,CR533458,CR616220,DA246318,DA400786,DB495511 NP_009037,CAI17023,CAH73447,EAX08446,EAX08447,EAX08448,AAD02323,BAG51754,BAG34788,CAB45762,AAH44582,AAH59385,CAG38489,O95164,CAL38126,CAL38242 Hs.145575 DKFZp434K151|FLJ32018|HCG-1|PNSC1 MUB|hsMUB|membrane-anchored ubiquitin-fold protein|protein HCG-1|ubiquitin-like protein 3 protein-coding 1348580 UBL4A ubiquitin-like 4A 1580863 2829204,18029348,17081983,16916647,16872915,15489334,12477932,8733135,6533418,17643375,19615732,17207965 8266 NM_014235,BX664739,CH471172,J03589,L44140,AK000405,AK293227,BC020254,BC043346,BC053589,CR612889,CR624483,M35604 ADQ33007,NP_055050,CAI43234,CAI43235,EAW72700,AAA36790,AAA92650,BAG56766,AAH43346,AAH53589,P11441 Hs.76480 DX254E|DXS254E|G6PD|GDX|GET5|MDY2|TMA24|UBL4 ubiquitin-like 4|ubiquitin-like protein 4A|ubiquitin-like protein GDX protein-coding 1602973 UBL4B ubiquitin-like 4B 16872915,15489334,14702039,12477932,17207965 164153 NM_203412,AL160006,CH471122,CS072275,AA608970,AK098556,BC058929 NP_981957,EAW56431,CAI93413,BAC05331,AAH58929,Q8N7F7,ADQ32549 Hs.374027 FLJ25690 ubiquitin-like protein 4B protein-coding 1351956 UBL5 ubiquitin-like 5 Ubiquitin-like proteins (UBLs) are thought to be reversible modulators of protein function rather than protein degraders like ubiquitin (MIM 191339).[supplied by OMIM] 1580863 11161819,19189687,19058789,17036923,15620657,15489334,15342556,15331561,14702039,12824502,12705895,12477932 59286 BP213482,NM_024292,NM_001048241,AC008752,CH471106,AF313915,AK128885,AK309258,AK311889,BC007053,BC110839,BT007355,CA418471,CR590001,CR593093,CR606232 NP_077268,NP_001041706,EAW84054,EAW84055,EAW84056,AAK14178,BAG34830,AAH07053,AAI10840,AAP36019,Q9BZL1 Hs.534477 FLJ46917|HUB1|MGC131795 ubiquitin-like protein 5 protein-coding 1344940 UBL6 ubiquitin-like 6 170557 AC005220 1602843 UBL7 ubiquitin-like 7 (bone marrow stromal cell-derived) 14667819,17081983,16731964,16189514,15489334,12644319,12477932,17207965 84993 NM_201265,NM_032907,AC012435,CH471136,AY037166,BC007913,BC030055,BC033919,BI551787,BI552240,CR591862,CR602642,CR603197,CR607195,CR610692,CR610832,CR615377,CR621691,CR622937,CR624391 NP_957717,NP_116296,EAW99331,EAW99332,EAW99333,EAW99334,EAW99335,EAW99336,EAW99337,EAW99338,EAW99339,AAK67643,AAH07913,AAH30055,AAH33919,Q96S82,ADQ32712 Hs.334713 BMSC-UbP|MGC14421|TCBA1 bone marrow stromal cell ubiquitin-like protein|bone marrow stromal cell-derived ubiquitin-like|ubiquitin-like protein 7|ubiquitin-like protein SB132 protein-coding 1605293 UBLCP1 ubiquitin-like domain containing CTD phosphatase 1 16344560,16189514,15883030,15489334,14702039,12477932,8889548 134510 NM_145049,AC011418,CH471062,AK057996,AY444562,BC013425,BM676716,BM677370,CR615207,DA930581 NP_659486,EAW61577,EAW61578,BAB71628,AAS68538,AAH13425,Q8WVY7 Hs.591733 CPUB1|FLJ25267|MGC10067 CTD phosphatase-like with ubiquitin domain 1|CTD-like phosphatase domain-containing protein|ubiquitin-like domain-containing CTD phosphatase 1 protein-coding 1323115 UBN1 ubinuclein 1 1580863 10725330,19029251,17081983,16344560,15302935,15146197,14718166,14702039,21084479,18823282 29855 BG822152,BQ009566,CN428658,CR615790,CR625373,U19346,NM_016936,AC020663,AC027687,AF108459,CH471112,AA742357,AF108460,AF108461,AK022652,AK056282,AK300131,AU120544,AW385352,BC013750,NM_001079514 AAA64188,Q9NPG3,AAI56177,AAI57078,NP_001072982,NP_058632,AAF34869,EAW85249,EAW85250,AAF31755,AAF31756,BAH13219 Hs.440219 VT|VT4 HIRA-binding protein|ubinuclein-1|ubiquitously expressed nuclear protein protein-coding 2302451 UBN2 ubinuclein 2 19029251,12690205,12477932,8889548 254048 NM_173569,AC009220,CH236950,AB107352,AI239540,AI803206,AK098644,AK125956,BC037413,BC045656,BC065034,BC108249,BM673408,BX640752 NP_775840,EAL24038,BAC67657,BAC05362,BAC86361,AAH65034,AAI08250,Q6ZU65 Hs.153458,Hs.511486 FLJ25778 OTTHUMP00000212305|ubinuclein-2 protein-coding 1605087 UBOX5 U-box domain containing 5 16189514,15489334,14702039,12477932,11780052,11274149,10431818,10048485,9373149,8125298,15189447,19549727 22888 NM_199415,NM_014948,AL121891,CH471133,AB020667,AK022444,AK222570,AK222876,BC000515,BC046122,BC064544,BM992259,BX475562,CR457089 NP_955447,NP_055763,CAC09908,CAC09909,EAX10550,EAX10551,BAA74883,BAG51073,BAD96290,BAD96596,AAH00515,AAH46122,CAG33370,O94941,Q53GQ5,Q53HL0,Q86X87,Q9H4J2,ABM82941,ABM86131 Hs.654646 KIAA0860|RNF37|UBCE7IP5|UIP5 RING finger protein 37|U-box domain-containing protein 5|ubiquitin conjugating enzyme 7 interacting protein 5|ubiquitin-conjugating enzyme 7-interacting protein 5 protein-coding 1345367 UBP1 upstream binding protein 1 (LBP-1a) 1580863 15207707,8114710,18004979,16344560,15489334,15471945,14702039,12477932,10644752,7836461,2006421,19662162,19751393 7342 NM_014517,NM_001128160,NM_001128161,AC093114,AC122176,CH471055,AF198487,AK023274,AK023278,AK023322,AK027177,AK293100,AK309430,AL133032,AL831847,BC047235,CR593645,CR749798,DB131031 NP_055332,NP_001121632,NP_001121633,EAW64454,EAW64455,EAW64456,EAW64457,AAF32274,BAB14501,BAG51180,BAF85789,AAH47235,CAH18658,Q9NZI7,ABZ92436 Hs.643744 DKFZp686L1745|LBP-1B|LBP-1a|LBP1A|LBP1B transcription factor LBP-1|upstream-binding protein 1 protein-coding 731465 UBQLN1 ubiquilin 1 This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 16799550,16862145,20529957,11853878,19148225,19112176,18953672,18467327,18340109,18241885,17947293,17709205,17614368,17082820,16945923,16815845,16813565,16725228,16713569,16526030,16504527,16461334,16344560,16302009,16278862,16214290,16189514,16091357,15975090,15745979,15492808,15489334,15231748,15004330,14702039,12634373,12477932,12095988,11528422,11256614,11230166,11076969,10983987,10807547,10549293,10390159,9303440,9268694,18307982,18535780,19822669,20350585,20379614 29979 NM_053067,NM_013438,NG_011519,AL354920,CH471089,AB035275,AB209468,AF176069,AF293384,AK027556,AK027576,AK074535,AL136643,BC010066,BC039294,CR596552,CR612259,DA317805 NP_444295,NP_038466,CAI15100,CAI15101,EAW62658,EAW62659,EAW62660,EAW62661,EAW62662,EAW62663,EAW62664,BAB20436,BAD92705,AAD49751,AAG02473,BAG51344,BAG51350,CAB66578,AAH10066,AAH39294,Q59FJ2,Q9UMX0 Hs.9589 DA41|DSK2|FLJ90054|PLIC-1|UBQN|XDRP1 hPLIC-1|protein linking IAP with cytoskeleton 1|ubiquilin-1 protein-coding 1345154 UBQLN1P ubiquilin 1 pseudogene 387117 NG_011407,AB014085,AL662795,AL662831,AL773535,BX294158,BX927214,CR759281,CR759890,CR759928 UBQLN1P pseudo 1350173 UBQLN2 ubiquilin 2 This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq] 18029348,19148225,18199683,17098253,16813565,16713569,15975090,15772651,15231748,12972570,12477932,12200120,11827521,11717310,10983987,10894951,10675567,9853615,18535780,18307982,14702039 29978 NM_013444,AL354793,CH471154,AB015344,AF189009,AF293385,AK297252,AL442081,BC069237,AK001029,AK302885,AU310783,BI602998,NG_016249 NP_038472,CAD13519,EAW93233,BAA34801,AAF17237,AAG02474,BAG59731,CAC09446,AAH69237,Q9UHD9,BAG64063 Hs.179309 CHAP1|CHAP1/DSK2|DSK2|Dsk2|FLJ10167|FLJ56541|HRIHFB2157|LIC-2|N4BP4|PLIC-2|PLIC2|RIHFB2157 DSK2 homolog|Nedd4 binding protein 4|hPLIC-2|protein linking IAP with cytoskeleton 2|ubiquilin-2|ubiquitin-like product Chap1/Dsk2 protein-coding 1312638 UBQLN3 ubiquilin 3 Summary: This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis, and proposed to regulate cell-cycle progression during spermatogenesis. [provided by RefSeq] 1580863 15489334,12477932,11121057,10831842,9373149,8125298 50613 CH471064,AF230481,BC036743,NM_017481,AC087380,AF137396,HC007374,HC044809 AAG41675,EAW68790,AAF67143,AAH36743,Q9H347,ABW03695,NP_059509,CBH19492,CBH30734 Hs.189184 TUP-1 OTTHUMP00000069806|ubiquilin-3 protein-coding 1344813 UBQLN4 ubiquilin 4 16713569,11001934,18079109,15489334,12477932,11162551,10575211,18307982,15280365,20940304,16169070,20702650,15231748,17290220 56893 NM_020131,AL355388,CH471121,AB209566,AF113544,AF188240,AK098368,AK302895,AK314413,BC006410,BC018403,BC063841,CR617278,CR625574 NP_064516,CAH72633,CAH72634,EAW53005,EAW53006,EAW53007,EAW53008,EAW53009,BAD92803,AAF19084,AAF80171,BAG64068,BAG37034,AAH06410,AAH18403,AAH63841,Q59F94,Q9H8R7,Q9NRR5 Hs.283739 A1U|C1orf6|CIP75|UBIN ataxin-1 ubiquitin-like interacting protein|ataxin-1 ubiquitin-like-interacting protein A1U|ubiquilin-4 protein-coding 1344129 UBQLN4P ubiquilin 4 pseudogene 285329 NG_005662,AC021059 C3orf12|UBQLN4P pseudo 4107116 UBQLN4P2 ubiquilin 4 pseudogene 2 100131393 AADB02002442,ABBA01004797,AC009969 pseudo 1605287 UBQLNL ubiquilin-like 14702039,12477932,20379614 143630 NM_145053,AC087380,CH471064,AK057255,BC012183,BC034977 NP_659490,EAW68789,BAB71398,AAH12183,AAH34977,Q8IYU4 Hs.10688 MGC20470|MGC26958 ubiquilin-like protein protein-coding 1347280 UBR1 ubiquitin protein ligase E3 component n-recognin 1 The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq] 1580863 19058315,19006206,18366806,18089810,17569795,17462600,17222803,17018293,16311597,16169070,16055722,15548684,15489334,15317757,15302935,14702039,12477932,12434312,9653112,8901547,7633422,17643375 197131 NM_174916,NG_012182,AC068724,AC090514,AF067387,CH471125,Z47040,AF061556,AF525401,AK027803,AK054969,AK056441,AK127478,AK292516,AK302489,AY061886,BC113505,BC113507,BE873236,BX648400,CR749326 NP_777576,AAC23677,EAW92584,AAC39845,AAO14997,BAB55380,BAF85205,BAG63774,AAL32103,AAI13506,AAI13508,CAH18181,Q8IWV7 Hs.591121 JBS|MGC142065|MGC142067 E3 ubiquitin-protein ligase UBR1|E3a ligase|N-recognin-1|ubiquitin ligase E3 alpha-I|ubiquitin-protein ligase E3-alpha|ubiquitin-protein ligase E3-alpha-1|ubiquitin-protein ligase E3-alpha-I protein-coding 1313853 UBR2 ubiquitin protein ligase E3 component n-recognin 2 Proteolysis by the ubiquitin-proteasome system controls the concentration of many regulatory proteins. The selectivity of ubiquitylation is determined by ubiquitin E3 ligases, which recognize the substrate's destabilization signal, or degron. The E3 ligase UBR2 participates in the N-end rule pathway, which targets proteins bearing an N-terminal degron, or N-degron (Kwon et al., 2003 [PubMed 14585983]).[supplied by OMIM] 18029348,16311597,15548684,15489334,15317757,14702039,14585983,14574404,12477932,9205841,17643375,19940298,20298436,20379614 23304 NM_015255,AL049843,AL136223,AL391814,CH471081,AB002347,AK026998,AK090874,AK125795,AK127310,AK304070,AK310532,AY061884,BC024217,BC064512,BX647467,AK093676,BC080623,DR003057,NM_001184801 NP_056070,CAI20399,CAI95685,CAI19919,CAI19920,CAI95666,CAI14737,CAI14738,CAI95298,EAX04094,EAX04095,EAX04096,EAX04097,BAA20806,BAC86295,BAG54478,BAG64977,AAL32101,AAH24217,AAH64512,Q8IWV8,AAI56046,NP_001171730 Hs.529925 C6orf133|DKFZp686C08114|FLJ36357|KIAA0349|MGC71112|RP3-392M17.3|bA49A4.1|dJ242G1.1|dJ392M17.3 E3 ubiquitin-protein ligase UBR2|ubiquitin-protein ligase E3-alpha-2|ubiquitin-protein ligase E3-alpha-II protein-coding 1346219 UBR3 ubiquitin protein ligase E3 component n-recognin 3 (putative) 19910543,19549727,17462990,16344560,15815621,15489334,14702039,12477932,8889548 130507 BU686724,BX281113,BX494687,BX649036,CR749469,DA108743,DA234864,DA301129,DA352029,DN831941,DR731153,BU158552,NM_172070,AC009967,AC079151,AC092641,CH471058,AB095944,AI142128,AK094741,AK126998,AK127553,AK128490,AK303062,AL834144,BC044060,BC044594,BC113010,BF446017 CAH18299,Q68DC1,Q6ZT12,NP_742067,AAY14890,EAX11248,EAX11249,EAX11250,BAC23120,BAC86783,BAC87032,BAC87462,BAG64179,CAD38857 Hs.379548 DKFZp434P117|DKFZp686N10185|FLJ37422|KIAA2024|MGC126489|ZNF650 E3 ubiquitin-protein ligase UBR3|N-recognin-3|OTTHUMP00000163072|ubiquitin protein ligase E3 component n-recognin 3|ubiquitin-protein ligase E3-alpha-3|ubiquitin-protein ligase E3-alpha-III|zinc finger protein 650 protein-coding 1350466 UBR4 ubiquitin protein ligase E3 component n-recognin 4 16247014,16214886,16061792,16055722,14702039,12477932,10718198,9455484,9110174,8619474,17353931,15231748,20379614 23352 AL137127,AL357564,CH471134,NM_020765,AA748129,AB007931,AB037728,AF055010,AF348492,AJ505016,AK000331,AK001233,AK022322,AK022573,AK022924,AK023826,AK024105,AK025149,AK026543,AK056218,AK092390,AK123857,AK125800,AK298314,AK302623,AL049972,BC007962,BC015865,BC018694,BC041137,BC063573,BC073905,BC096758,CR610154,CR619441,NG_027669 NP_065816,CAI19268,CAI19269,CAI19270,CAI19271,CAI19272,CAI19273,CAI19274,CAI20972,CAI20973,CAI20974,EAW94864,EAW94865,EAW94866,EAW94867,EAW94868,EAW94869,BAA32307,BAA92545,AAC09360,AAL83880,CAD43719,BAG50874,BAB14011,BAG51094,BAC86298,BAG60568,BAG63867,AAH07962,AAH18694,AAH63573,AAH73905,AAH96758,Q5T4S7,Q6ZUC7,Q96HY5,CAB43227 Hs.148078,Hs.649405 FLJ41863|KIAA0462|KIAA1307|RBAF600|RP5-1126H10.1|ZUBR1|p600 600 kDa retinoblastoma protein-associated factor|E3 ubiquitin-protein ligase UBR4|N-recognin-4|retinoblastoma-associated factor 600|retinoblastoma-associated factor 600-like protein|retinoblastoma-associated factor of 600 kDa|zinc finger UBR1-type protein 1|zinc finger, UBR1 type 1|zinc finger, ubr1 type 1 protein-coding 1605385 UBR5 ubiquitin protein ligase E3 component n-recognin 5 This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. 2306813 17353931,10030672,12011095,18349819,18073532,17081983,17074762,16565220,16083285,16055722,15592455,15231748,14702039,12902990,12840015,12594221,12477932,12168954,11714696,11287654,10048485,20544796,16601676,17148452,17643375,19270065,19615732,20025491 2306813 51366 NM_015902,AP002981,CH471060,AB020703,AF006010,AK002172,AL833555,BC037843,BC044598,BC137234,BC151231,U95000,AP002907,BX489192,AK124995,BC053948 NP_056986,EAW91843,EAW91844,EAW91845,EAW91846,BAA74919,AAD01259,BAG51024,AAH44598,AAI37235,AAF88143,O95071,Q49A65 Hs.492445 DD5|EDD|EDD1|FLJ11310|HYD|KIAA0896|MGC57263 E3 identified by differential display|E3 ubiquitin protein ligase, HECT domain containing, 1|E3 ubiquitin-protein ligase UBR5|E3 ubiquitin-protein ligase, HECT domain-containing 1|hHYD|hyperplastic discs protein homolog|progestin induced protein|progestin-induced protein|ubiquitin-protein ligase protein-coding 1344986 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 18029348,18162545,16713569,16344560,15489334,14702039,12477932 55148 NM_175748,NM_001100417,AL110118,AL132838,CH471061,AK001345,AK097477,AK315492,BC015046,BC017013,BC051819,BX248249,CR602248,CR616244,DB047433 NP_786924,NP_001093887,EAW81521,EAW81522,EAW81523,BAA91639,BAC05069,BAG37876,AAH15046,AAH17013,AAH51819,CAD62577,Q05DA8,Q8N806 Hs.726212 C14orf130|FLJ10483|MGC9518 N-recognin-7|putative E3 ubiquitin-protein ligase UBR7 protein-coding 1317795 UBTD1 ubiquitin domain containing 1 737633,1580863 16189514,15489334,15164054,14702039,12477932,9373149,8125298,17207965 737633 80019 NM_024954,AL359388,CH471066,AK021869,AK222597,BC007331 NP_079230,CAI14191,EAW49918,EAW49919,EAW49920,BAB13921,BAD96317,AAH07331,Q9HAC8,ADQ31617 Hs.500724 FLJ11807 ubiquitin domain-containing protein 1 protein-coding 1601834 UBTD2 ubiquitin domain containing 2 20440844,16344560,15987890,15489334,15372022,14702039,12507522,12477932 92181 NM_152277,AC008671,AC024561,CH471062,AF251700,AK022894,AK313274,AU117374,BC019910,BU849695,CR591327,CR604922 NP_689490,EAW61436,EAW61437,AAL99389,BAG51130,BAG36083,AAH19910,Q8WUN7 Hs.131570,Hs.727950 DC-UbP|DCUBP|MGC30022 ubiquitin domain-containing protein 2|ubiquitin-like protein SB72 protein-coding 734082 UBTF upstream binding transcription factor, RNA polymerase I Upstream binding factor (UBF) is a transcription factor required for expression of the 18S, 5.8S, and 28S ribosomal RNAs, along with SL1 (a complex of TBP (MIM 600075) and multiple TBP-associated factors or 'TAFs'). Two UBF polypeptides, of 94 and 97 kD, exist in the human (Bell et al., 1988 [PubMed 3413483]). UBF is a nucleolar phosphoprotein with both DNA binding and transactivation domains. Sequence-specific DNA binding to the core and upstream control elements of the human rRNA promoter is mediated through several HMG boxes (Jantzen et al., 1990 [PubMed 2330041]).[supplied by OMIM] 1580863,1580791 8552083,7651819,3413483,1940801,10913176,15723054,2330041,16777843,9582279,11741541,12393749,12646563,19088274,18502146,17699751,17505112,17260958,16924243,16858408,16809778,15970593,15924431,15761153,15752694,15635413,15598984,15489334,15342556,15282543,15249688,15226435,12748295,12590579,12554758,12498690,12477932,11969401,11916260,11790298,11698641,11592397,11250903,11106745,11075946,11042686,10329630,10202152,9426281,9126496,8702533,8641287,15975576,16169070,17251981,17318177,18029348,19174463,19393134,19452555,19527688,20160071,20197409,20713446 1580791 7343 NM_001076683,NM_001076684,NM_014233,AC004596,AJ308590,CH471178,U65487,AF289595,AK291733,AK292518,AK292577,AK296917,AK298008,AK308321,BC031423,BC042297,BP230502,CR602921,DR000113,X53390,X53461,X56687 NP_001070151,NP_001070152,NP_055048,CAC34632,EAW51616,EAW51617,EAW51618,EAW51619,EAW51620,AAC51239,AAL55779,BAF84422,BAF85207,BAF85266,BAG59472,BAG60313,AAH31423,AAH42297,CAA37469,CAA37548,CAA40016,O00164,P17480,Q05BZ1,Q9BQR2 Hs.89781 NOR-90|UBF UBF-1|autoantigen NOR-90|nucleolar transcription factor 1|transcription factor ubf|upstream-binding factor 1 protein-coding 1312367 UBTFL1 upstream binding transcription factor, RNA polymerase I-like 1 19915186,16554811 642623 NM_001143975,AP000827 NP_001137447,P0CB47 Hs.719885 C11orf27|HMGPI OTTHUMP00000207680|putative upstream-binding factor 1-like protein 1 protein-coding 2302195 UBTFL2 upstream binding transcription factor, RNA polymerase I-like 2 120126 NG_012230,AP003122,CH471185 EAW59351 pseudo 2302836 UBTFL3 upstream binding transcription factor, RNA polymerase I-like 3 15815621,17974005 129870 AC009237,NG_023214 A6ND21 UBTFL5 putative upstream-binding factor 1-like protein 3/5 pseudo 2302186 UBTFL4 upstream binding transcription factor, RNA polymerase I-like 4 100216327 BX647558 Hs.639911 protein-coding 2302192 UBTFL5 upstream binding transcription factor, RNA polymerase I-like 5 728231 AC133104,NG_023413 upstream binding transcription factor, RNA polymerase I-like 5 pseudo 2302194 UBTFL6 upstream binding transcription factor, RNA polymerase I-like 6 15815621 643615 AC017099,NG_027836 P0CB48 Putative upstream-binding factor 1-like protein 6|upstream binding transcription factor, RNA polymerase I-like 6 pseudo 2302191 UBTFL7 upstream binding transcription factor, RNA polymerase I-like 7 11181995 646759 NG_006986,AC084851,CH471064 EAW67862 pseudo 1318044 UBXD3 UBX domain containing 3 737633 15489334,14702039,12477932,17207965 737633 127733 NM_152376,CH471134,Z98257,AK058158,BC036417,BC047428,BX648631 NP_689589,EAW94920,CAI20259,BAB71693,AAH36417,AAH47428,Q3ZCW1,Q96LJ8,ADQ32492 Hs.432503 FLJ25429|UBXD3 UBX domain containing 3|UBX domain-containing protein 10|UBX domain-containing protein 3 protein-coding 737092 UBXN11 UBX domain protein 11 This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 18974390,16344560,16202387,16189514,15231748,14702039,14583468,12477932,11940653,9110174,8619474 91544 DA421971,DA989799,NM_001077262,NM_183008,AL451139,CH471059,AF370425,AF520989,AF521017,AF521018,AK074358,AK090792,AK093258,AK094198,AK097368,AK291503,AK296179,AY007163,BC038106,BM987787,BX647774,BX648412,CR590200,CR612365,CR625017,NM_145345,CR749413 CAH18255,Q5T118,Q5T124,Q5T130,NP_663320,NP_001070730,NP_892120,CAI15828,CAI15831,CAI15832,CAI15833,CAI15834,CAI15835,CAI15836,CAI15840,CAI15841,CAI15842,EAX07823,EAX07824,EAX07825,EAX07826,EAX07827,EAX07828,EAX07829,EAX07830,AAQ15261,AAM76060,AAM74201,AAM74202,BAC04112,BAC04307,BAC05024,BAF84192,BAH12274,AAH38106,CAH56155 Hs.145061 COA-1|DKFZp686F04228|PP2243|SOC|SOCI|UBXD5 OTTHUMP00000003562|UBX domain containing 5|UBX domain-containing protein 11|UBX domain-containing protein 5|colorectal tumor-associated antigen COA-1|colorectal tumor-associated antigen-1|socius protein-coding 1320427 UBXN2A UBX domain protein 2A 737633 15489334,12477932,19197348,19615732 737633 165324 NM_181713,AC066692,CH471053,AK291192,AL832079,BC016364,BC037901,BC092484,BC093681,BC111997,BC143298 NP_859064,AAY14818,EAX00777,EAX00778,EAX00779,EAX00780,BAF83881,AAH92484,AAH93681,AAI11998,AAI43299,P68543,Q53S92 Hs.591576 MGC138202|UBXD4 OTTHUMP00000200716|UBX domain containing 4|UBX domain-containing protein 2A|UBX domain-containing protein 4 protein-coding 2299012 UBXN2B UBX domain protein 2B 14702039,12477932,9110174,8619474,20875789,17141156,19615732,20379614 137886 NM_001077619,AC009927,AK054658,AK091561,AK126300,AL831990,AL833075,BC113645,BX647876,U79282 NP_001071087,BAG54305,AAI13646,Q14CS0,ADR83146 Hs.155572 p37 NSFL1 cofactor p37|UBX domain-containing protein 2B|p97 cofactor p37 protein-coding 1316650 UBXN4 UBX domain protein 4 UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM] 15489336,15489334,15342556,14702039,12477932,11230166,11076863,9039502,16169070,18775313,19822669,16968747,16381901 23190 NM_014607,AC011893,CH471058,AI039259,AK026971,AK095402,AK292829,AK304096,AK311058,BC020806,BC035594,BP247627,BX647216,BX647662,CR600206,CR608643,D87684,EF199840 NP_055422,AAX88923,EAX11623,EAX11624,EAX11625,BAG53047,BAF85518,BAG65002,AAH20806,AAH35594,BAA13437,ABM90426,Q6PJ80,Q92575,CAL37639,CAL38355,ABM82049,ABM85228 Hs.591242 FLJ23318|KIAA0242|KIAA2042|UBXD2|UBXDC1|erasin UBX domain containing 2|UBX domain-containing 1|UBX domain-containing protein 2|UBX domain-containing protein 4 protein-coding 1347744 UBXN6 UBX domain protein 6 11342112,18656546,19275885,19174149,15489334,12477932,16341674,18775313 80700 AC011498,CH471139,AF272893,AF272894,AL833695,BC007414,BC008288,BC017113,CR590857,NM_025241,CR598178,CR617368,AK090473,BM764980,NM_001171091 NP_079517,EAW69219,EAW69220,EAW69221,EAW69222,EAW69223,AAK13257,AAK13258,AAH07414,AAH08288,AAH17113,Q9BZV1,BAC03454,NP_001164562,Q8NF09 Hs.435255 DKFZp667D109|FLJ00394|UBXD1|UBXDC2 UBX domain containing 1|UBX domain-containing 1|UBX domain-containing 2|UBX domain-containing protein 1|UBX domain-containing protein 6 protein-coding 1607058 UBXN7 UBX domain protein 7 18775313,16344560,15489334,14702039,12477932,9872452 26043 AC069257,AC083822,CH471191,AB018337,AK026451,AK129880,AK303630,AK307899,AK308699,BC028986,BC047420,BG253663,CR616203,DA119173,NM_015562 NP_056377,EAW53652,EAW53654,BAA34514,BAC85247,BAG64638,AAH28986,O94888,AAI60090 Hs.518524 KIAA0794|UBXD7 UBX domain containing 7|UBX domain-containing protein 7 protein-coding 1603319 UBXN8 UBX domain protein 8 15489334,12477932,9027507,17207965 7993 NM_005671,AC009314,CH471080,AK296600,AY302140,BC020694,BI462115,D83767,D83768 NP_005662,EAW63437,EAW63438,EAW63439,BAG59213,AAP57632,AAH20694,BAA18958,BAA18959,O00124,ADQ32086 Hs.153678 D8S2298E|REP8|UBXD6 Reproduction/chromosome 8|UBX domain containing 6|UBX domain-containing protein 6|UBX domain-containing protein 8|rep-8 protein|reproduction 8 protein protein-coding 2311619 UCA1 urothelial cancer associated 1 (non-protein coding) 18501714,17416635,16914571,14702039,12477932 652995 NR_015379,AC004510,AK024303,AK092401,BC005351,BC017567,BC022824,BC055082,BC070340,DQ249310,DQ343132,EU334869,BC107722,CR603668,CR606078 Hs.644234 CUDR|NCRNA00178 miscrna 1351035 UCHH2 ubiquitin carboxyl-terminal esterase H2 (ubiquitin thiolesterase) 7344 733510 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) UCHL1 is a member of a gene family whose products hydrolyze small C-terminal adducts of ubiquitin to generate the ubiquitin monomer. Expression of UCHL1 is highly specific to neurons and to cells of the diffuse neuroendocrine system and their tumors. It is present in all neurons (Doran et al., 1983 [PubMed 6343558]).[supplied by OMIM] 1580538,1302547,1302546,1580863,1300048,1302562,1302872 8639624,9521656,12082530,16130169,18029348,19535597,19343046,19329225,19261853,19224617,19141079,19035297,19017757,18950315,18949367,18841579,18638528,18666234,18550537,18543214,18512240,18499164,18494032,18411255,18250096,18093156,17994469,17929277,17925890,17690318,17599367,17287139,17200335,17144664,17108109,16941465,16888648,16698101,16644676,16642472,16626667,16537382,16450370,16402389,16380264,16371654,16369839,16316632,16177983,16007636,15882803,15716245,15489334,15342556,15228595,15221445,15214825,15194490,15048890,14722078,14702039,12913066,12784265,12775255,12705903,12539205,12477932,12408865,12210873,12160938,12123845,12032852,11716150,11603807,11535241,11502942,11027850,10471497,10454131,10203348,10048490,9790970,9774100,9435142,8671330,8471161,6343558,2947814,2163617,1849484,1840236,1286667,16169070,20051117,20395212,20160478,20029029,20713032,18820707,19477270,19488775,19536331,19615732,19683447,19707515,19864305,19945429,19950834,20147297,20231490,20302621,20302855,20381070,20104524,20574456,19859801,20524204 1580538,1302547,1302546,1302562,1302872 7345 NM_004181,AC095043,AF076273,CH471069,X17377,AB209038,AK054579,AK315368,BC000332,BC005117,BC006305,BC018838,BP202166,CR591761,CR595667,CR596405,CR598599,CR598723,CR600224,CR601816,CR605906,CR609313,CR609753,CR610215,CR610993,CR613951,CR614115,CR614674,CR614782,CR616949,CR619178,CR623179,CR623929,CR624065,CR626014,X04741,CR610620,NG_012931 NP_004172,AAY40923,AAD09172,EAW92978,EAW92979,EAW92980,EAW92981,EAW92982,EAW92983,CAA35249,BAD92275,BAG51393,BAG37761,AAH00332,AAH05117,AAH06305,CAA28443,P09936,Q59GS1,ABM82924,ABM86114 Hs.518731 PARK5|PGP 9.5|PGP9.5|PGP95|Uch-L1 OTTHUMP00000218137|OTTHUMP00000218139|OTTHUMP00000218140|OTTHUMP00000218141|neuron cytoplasmic protein 9.5|ubiquitin C-terminal hydrolase|ubiquitin carboxy-terminal hydrolase l1|ubiquitin carboxyl-terminal hydrolase isozyme L1|ubiquitin thioesterase L1 protein-coding 1353779 UCHL2 ubiquitin carboxyl-terminal esterase L2 (ubiquitin thiolesterase) 7346 731673 UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 1580863 2530630,19343046,19047059,16713569,16402389,15531586,15489334,15057823,14595809,12721789,12477932,10527871,10518943,9790970,9233788,19154770,19476499,19615732,19636824,17207965 7347 NM_006002,AL137244,CH471093,AK313665,BC018125,BT019359,CR456855,CR610104,M30496 NP_005993,CAI12419,CAI12421,EAW80542,EAW80543,EAW80544,EAW80545,EAW80546,EAW80547,BAG36417,AAH18125,AAV38166,CAG33136,AAA36791,P15374,ADQ31597 Hs.162241 UCH-L3 ubiquitin carboxyl-terminal hydrolase isozyme L3|ubiquitin thioesterase L3|ubiquitin thiolesterase protein-coding 1313432 UCHL5 ubiquitin carboxyl-terminal hydrolase L5 1580863 11163772,18922472,17139257,16990800,16906146,16710414,16501559,16402389,16027725,15489334,12477932,10931946,10810093,9373149,8125298,16344560,18029348,17643375,18162577,19615732,19836345 51377 NM_015984,AL136370,CH471067,AF147717,AF151828,AF157320,AK024751,AK225794,AK296487,AK301381,AK314445,AK316064,BC015381,BC015521,BC025369,BT006790,CR606979,DA255130,NM_001199261,NM_001199262,NM_001199263,XR_108323,XR_111979,XR_114956 NP_057068,CAI10828,CAI10829,CAI10830,CAI10831,CAI10832,CAI10833,CAI10834,CAI10835,CAI10836,CAI10837,EAW91233,EAW91234,EAW91235,EAW91236,EAW91237,EAW91238,AAD31528,AAD34065,BAG59125,BAG62921,BAG37054,BAH14435,AAH15521,AAH25369,AAP35436,Q5LJA3,Q5LJB2,Q5LJB3,Q5LJB4,Q9Y5K5,AAF67486,NP_001186190,NP_001186191,NP_001186192 Hs.591458 CGI-70|INO80R|UCH-L5|UCH37 INO80 complex subunit R|OTTHUMP00000033566|OTTHUMP00000033567|OTTHUMP00000033568|OTTHUMP00000033754|UCH-L5|ubiquitin C-terminal hydrolase UCH37|ubiquitin carboxyl-terminal esterase L5|ubiquitin carboxyl-terminal hydrolase isozyme L5|ubiquitin thioesterase L5 protein-coding 1318012 UCK1 uridine-cytidine kinase 1 Uridine/cytidine kinase-1 (EC 2.7.1.48) is a pyrimidine ribonucleoside kinase that catalyzes the phosphorylation of uridine and cytidine to form uridine monophosphate (UMP) and cytidine monophosphate (CMP) (Van Rompay et al., 2001 [PubMed 11306702]).[supplied by OMIM] 737633,1580863 11306702,18080217,16344560,15489334,15164053,14702039,12477932,16169070 737633 83549 NM_031432,AL358781,CH471090,AA809511,AF125106,AF237290,AF254133,AK022317,AK057848,AK295471,AK307475,BC015547,BC091495,CR457281,CR611362,DA598285,NM_001135954,HH961850 Q96BJ0,Q9HA47,NP_001129426,NP_113620,CAI40228,CAI40229,CAI40231,CAI40232,EAW87979,EAW87980,EAW87981,EAW87982,EAW87983,EAW87984,AAL75943,AAK28324,AAK49122,BAB14010,BAG58400,AAH15547,AAH91495,CAG33562,Q5JT09,Q5JT10,Q5JT13,CBX51398 Hs.9597 FLJ12255|RP11-334J6.5|URK1 UCK 1|cytidine monophosphokinase 1|uridine monophosphokinase 1|uridine-cytidine kinase 1 protein-coding 1602230 UCK2 uridine-cytidine kinase 2 The protein encoded by this gene catalyzes the phosphorylation of uridine monophosphate to uridine diphosphate. This is the first step in the production of the pyrimidine nucleoside triphosphates required for RNA and DNA synthesis. In addition, an allele of this gene may play a role in mediating nonhumoral immunity to Hemophilus influenzae type B. [provided by RefSeq] 2317214 15489334,15280220,15130468,12876357,12665801,12477932,12199906,11494055,8812458,16484797,11306702,19064610,17613536,16710414,19483681,19532987,19536175,8889548 2317214 7371 NM_012474,AL358115,AL451074,CH471067,AB062451,AF236637,AK294537,BC002906,BT006860,CR456857,CR608443,D78335,BM714864,DR762696,HC893721,HC896472,HC910672 NP_036606,CAI15121,CAH74066,EAW90767,EAW90768,EAW90769,BAB56162,AAK14053,BAG57744,AAH02906,AAP35506,CAG33138,BAA11349,Q9BZX2,CBN61306,CBN62649,CBN69656 Hs.458360 DKFZp686M04245|TSA903|UK|UMPK UCK 2|cytidine monophosphokinase 2|testis-specific protein TSA903|uridine kinase|uridine monophosphate kinase|uridine monophosphokinase 2|uridine-cytidine kinase 2 protein-coding 1342858 UCKL1 uridine-cytidine kinase 1-like 1 1580863 11780052,9373149,8125298,18029348,16964243,15489334,14702039,12477932,12199906,16709802,19653100,16344560 54963 NM_017859,AL118506,CH471077,AJ605558,AK000524,AK222559,AK223220,AK301602,AK303688,BC033078,CR594251,HC893601,HC896352,HC910552,DB193745,DC379603,NM_001193379 NP_060329,CAC15496,CAI21903,CAI21904,EAW75185,EAW75186,EAW75187,EAW75188,EAW75189,CAE54074,BAA91230,BAD96279,BAD96940,BAH13521,BAH14018,AAH33078,Q53HM1,Q5JWV1,Q9NWZ5,CBN61246,CBN62589,CBN69596,NP_001180308 Hs.504998 UCK1-LIKE|UCK1L|URKL1 uridine kinase-like 1|uridine-cytidine kinase-like 1 protein-coding 1626527 UCKL1AS UCKL1 antisense RNA (non-protein coding) 100113386 NR_027287,AL118506,AK128497 Hs.551552 FLJ46647|UCKL1-AS|UCKL1AS|UCKL1OS miscrna 1350104 UCMA upper zone of growth plate and cartilage matrix associated 737633 18156182,17707622,15489334,15164054,12477932,18836183 737633 221044 NM_145314,AL138764,CH471072,BC018068 NP_660357,CAI12909,EAW86296,AAH18068,Q8WVF2 Hs.112998 C10orf49|GRP Gla-rich protein|unique cartilage matrix-associated protein protein-coding 1349219 UCN urocortin This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq] 1580792,1642796,1642774,1642775,1642781,1642783,1642782,1580863 8612563,19086053,18670748,18443956,18329817,18234674,17597629,17154253,16920724,16698078,16675846,16340217,15815621,15784504,15489334,15072543,14764822,14576187,14519439,12535698,12519893,12477932,12175707,12111693,12010647,11836334,11788672,11416224,11329063,11238533,11150640,10690896,10422876,10341863,9628819,9622018,9467598,9423932,9360550,8612576,861256,15924674,19619932,19703147,19808377,19949969,19961889,20363214,20368512,20468064,19893766 1580792,1642796,1642774,1642775,1642781,1642783,1642782 7349 NM_003353,AC013413,AF038633,CH471053,BC104470,BC104471,CR542244 NP_003344,AAY24297,AAC24204,EAX00605,AAI04471,AAI04472,CAG47040,P55089 Hs.534363 MGC129974|MGC129975|UI|UROC urocortin|urocortin, preproprotein protein-coding 1348669 UCN2 urocortin 2 This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq] 1580863 11329063,17074339,16626608,16476507,16223946,15489334,15476935,14592950,14519439,12615952,12477932,11416224,11226328,20616367,20368512 90226 NM_033199,AC121252,AC134772,CH471055,AF320560,BC002647,BC022096 NP_149976,EAW64891,AAK52672,AAH02647,AAH22096,Q96RP3,ABM82016,ABM85198 Hs.631914 SRP|UCN-II|UCNI|UR|URP stresscopin-related peptide|ucn II|urocortin II|urocortin-2|urocortin-related peptide protein-coding 1352070 UCN3 urocortin 3 (stresscopin) This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq] 1580863 19351656,18504423,17074339,16626608,16095756,15949638,15489334,15476935,15070962,14764822,14519439,12615952,12477932,11416224,11329063,20368512,17207965,20616367 114131 NM_053049,AF361943,AL683826,AY026949,BC069530,BC100867,BC100868,BC100869,BC100870,BM310953,BQ776877,BQ778217 AAK11729,NP_444277,AAK67317,CAI23624,AAH69530,AAI00868,AAI00869,AAI00870,AAI00871,Q969E3,ADQ32879 Hs.511775 MGC119002|SCP|SPC|UCNIII stresscopin|ucn III|urocortin III|urocortin-3 2289527 BW436_H protein-coding 735821 UCP1 uncoupling protein 1 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq] 2313631,2313626,2313629,1624977,1624979,1624978,1580863 19913121,20622171,20628086,20802238,20803423,15120704,14671150,12951617,12910269,12756473,12732844,12565902,12477932,12395215,12375583,12119988,12084707,12075579,12032762,12029453,11994670,11780125,11572862,11466580,11439286,11317671,10999801,10805511,10772343,10620491,9398715,9119086,8968850,7951471,3165741,20709022,2380264,19420105,19367093,19076691,19056576,18955781,18755175,18720901,18660489,18370824,18305572,18068010,18059082,17635070,17516293,17397545,17242157,16953057,16896567,16373902,16338218,16180337,16132835,16084837,15955458,15865460,15815621,15536594,15489334,15355441,15281018,19474520,19491387,19567523,19578796,19730683,19753844,19806581,19895332,19943796,19948975,19966534,20416077,20468064,20734064,20877624 2313631,2313626,2313629,1624977,1624979,1624978 7350 NM_021833,NG_012139,AC108019,CH471056,X51952,X51955,BC069556,BC096736,BC098168,BC098258,BC098352,U28480 NP_068605,AAY41026,EAX05095,CAA36214,AAH69556,AAH96736,AAH98168,AAH98258,AAH98352,AAA85271,P25874,Q4KMT7 Hs.249211 SLC25A7|UCP UCP 1|mitochondrial brown fat uncoupling protein 1|solute carrier family 25 member 7|thermogenin|uncoupling protein 1 1643249,1643293,2289563 BW135_H,BW197_H,BW441_H protein-coding 69170 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq] 1580793,1580794,1643130,2313516,2313525,2313630,2313528,2313517,2302404,2313512,2313501,737760,737759,737761,1580863 19913121,20332018,20602615,20628086,20802238,20804304,18426866,18413749,18305572,18301432,18301352,18242170,18223008,18192542,18167556,18059082,18031357,18018477,18006489,17985659,17894153,17870627,17718790,17701054,17601350,17570749,17555951,17544366,17512314,17502873,17463068,17462780,17397545,17351641,17342078,17316620,17242157,17240372,17170091,17130180,17066476,17052689,16982633,16806233,16741267,16644712,16622580,16567833,16562813,16373902,16282353,16167150,16054055,16021520,15985484,15959859,15951317,15910756,15905464,15833942,15827742,15634780,15604415,15564896,15562023,15527803,15520825,15489334,15475368,15448008,15308133,15220218,15192823,15165610,15149891,15120704,15106800,15061987,15045692,15039126,15016641,14974928,14759071,14747301,14730379,14693721,14659466,14627764,12960023,12915397,18496642,18460338,20595066,9054939,9196039,19420105,19387457,19368944,19336475,19155787,19140314,19137581,19065272,19056576,19056482,19039313,18996102,18977241,18956255,18940651,18924534,18839467,18755175,18720901,18660489,18593920,12912909,12858170,12855674,12797456,12787871,12746756,12734183,12720538,12716765,12690079,12670931,12477932,12401727,12395215,12385772,12355400,12145158,12075579,12030845,11994670,11935148,11920154,11904148,11780125,11713718,11466580,11381268,10785390,10772343,10620491,10082652,10027754,9568704,9559644,9373149,9180264,9133562,8125298,18846338,20608355,17666355,19413708,19491387,19527523,19531977,19556617,19578796,19653005,19659999,19680556,19681913,19727213,19753844,19760975,19769793,19833146,19846869,19876004,19889414,19895332,19908126,19946892,19948975,19950601,20056920,20142250,20145583,20359253,20384434,20416077,20468064,20538960,20734064,20877624,20937264,21029457,21074158,20427509 1580793,1580794,1643130,2313516,2313525,2313630,2313528,2313517,2302404,2313512,2313501,737760,737759,737761 7351 NG_011478,AF019409,AF096289,AF132536,AJ223477,AJ223479,AP003717,CH471076,DQ087219,AK025742,AK222540,AK222557,BC011737,CR591630,CR600233,CR602354,CR607497,CR607585,NM_003355,CR608184,CR610551,CR610773,CR616061,CR616377,CR619395,CR622677,CR623697,CR624968,CR625575,CR626508,U76367,U82819 NP_003346,AAC39690,AAD21151,CAA11402,EAW74923,EAW74924,AAY68217,BAD96260,BAD96277,AAH11737,AAB48411,AAC51336,P55851,ABM84224,ABM87735 Hs.80658 BMIQ4|SLC25A8|UCPH UCP 2|mitochondrial uncoupling protein 2|solute carrier family 25 member 8|uncoupling protein 2 1643371,2289505,2289508 BW329_H,BW447_H,BW452_H protein-coding 733835 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene. 1580795,1643130,737802,2313502,2313515,2313522,2313523,2313524,2313630,2313513,2313514,2313517,2313528,2313516,2302404,2313506,2313511,2313512,2313518,2313520,2313521,2313535,2313519,2313526,2313629,737762,1331525,1625189,1580863 19913121,20628086,20679960,20694293,20802238,9480760,9196039,10935638,9180264,19369366,19336475,19155787,19073146,19056576,19056482,19039313,18996102,18956255,18924534,18825612,18755175,18676680,18660489,18648851,18484143,18426866,18426825,18348082,18305572,18249216,18223008,18191161,18167556,18059082,17870627,17786291,17786284,17728536,17676309,17587402,17571165,17544366,17512314,17502873,17351641,17150099,16966355,16752430,16741147,16644712,16631432,16622580,16373902,16352674,16344560,16337086,16215931,16178820,16046300,16006788,15978856,15959859,15910756,15870396,15564896,15520825,15496137,15489334,15346230,15211595,15120704,15045692,14708035,14702039,14671191,12843208,12824081,12756473,12734183,12720538,12670931,12634927,12612210,12477932,12395215,12351640,12217879,12170470,12145475,12145158,12075570,12051710,11994670,11920154,11875702,11842047,11683368,11319649,11238538,11151767,11126413,10958796,10785390,10772343,10748196,10620491,10329378,9769326,9498661,9325252,9305858,19170196,19413708,19468707,19491387,19578796,19625176,19653005,19680556,19692168,19710539,19753844,19769793,19876004,19913848,19948975,20031128,20186155,20416077,20468064,20538960,20734064,20877624,21074158 1580795,1643130,737802,2313502,2313515,2313522,2313523,2313524,2313630,2313513,2313514,2313517,2313528,2313516,2302404,2313506,2313511,2313512,2313518,2313520,2313521,2313535,2313519,2313526,2313629,737762,1331525,1625189 7352 NM_022803,NG_011515,AF012202,AF026958,AF032871,AF050113,AF127916,AP003717,CH471076,AF001787,AF011449,AK092685,AK290630,AK291889,AK309873,AW295096,BC008392,BU618868,DA876282,U82818,U84763,NM_003356 NP_003347,NP_073714,AAC51785,AAC18822,AAG02284,EAW74925,EAW74926,EAW74927,AAC51369,AAC51767,BAG52595,BAF83319,BAF84578,AAH08392,AAC51356,AAC51367,P55916 Hs.101337,Hs.621879 SLC25A9 UCP 3|Uncoupling protein-3|mitochondrial uncoupling protein 3|solute carrier family 25 member 9|uncoupling protein 3 1643371,2289505,2289508 BW329_H,BW447_H,BW452_H protein-coding 1604015 UCRC ubiquinol-cytochrome c reductase complex (7.2 kD) UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM] 8592474,16054089,15489334,12477932,12107413,11042152,10591208,9373149,8889548,8125298,9651245,20877624 29796 BI754905,BU935406,CA311834,CB999839,CD674029,NM_013387,AC004882,CH471095,AB028598,AF112217,AF161468,AF161500,AF161536,AK225973,BC005402,BC015971,NM_001003684 AAH15971,Q9NZY4,Q9P012,Q9UDW1,Q9UI02,NP_001003684,NP_037519,EAW59839,EAW59840,EAW59841,BAB20672,AAF17205,AAF29083,AAF29115,AAF29023,AAH05402 Hs.284292 HSPC051|HSPC119|HSPC151|QCR9|UCCR7.2|UCRC complex III subunit 9|complex III subunit X|cytochrome C1, nonheme 7kDa protein|cytochrome b-c1 complex subunit 9|cytochrome c1 non-heme 7 kDa protein|ubiquinol-cytochrome c reductase complex (7.2 kD)|ubiquinol-cytochrome c reductase complex 7.2 kDa protein|ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa protein-coding 1605360 UEVLD UEV and lactate/malate dehyrogenase domains 19549727,15489334,14702039,12477932,12427560,8889549 55293 NM_018314,NM_001040697,AC027544,AC112694,CH471064,AA160640,AF503350,AK001930,AK295501,AK296835,AK301537,AK314521,AK316191,AL134932,BC011011,BC064566,BM994955,BU633352,CB991602,CD369413,CR616778 NP_060784,NP_001035787,EAW68376,EAW68377,EAW68378,EAW68379,EAW68380,AAN32950,BAA91985,BAG58421,BAG59405,BAG63036,BAG37116,BAH14562,AAH11011,AAH64566,Q8IX04 Hs.407991 ATTP|FLJ11068|UEV3 EV and lactate/malate dehydrogenase domain-containing protein|UEV-3|signaling molecule ATTP|ubiquitin-conjugating enzyme E2 variant 3|ubiquitin-conjugating enzyme E2-like protein-coding 1604819 UFC1 ubiquitin-fold modifier conjugating enzyme 1 UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM] 17353931,19101823,15489334,15071506,12477932,11042152,10810093,8889548,20562859 51506 NM_016406,AL590714,CH471121,AB154405,AF151884,AF161504,AK292776,BC005187,CF128121 NP_057490,CAH72141,EAW52646,EAW52647,BAD15374,AAD34121,AAF29119,BAF85465,AAH05187,Q9Y3C8,ABM84087,ABM87456 Hs.301412 HSPC155 Ufm1-conjugating enzyme 1|ubiquitin-fold modifier-conjugating enzyme 1 protein-coding 732948 UFD1L ubiquitin fusion degradation 1 like (yeast) The protein encoded by this gene forms a complex with two other proteins, NPL4 and VCP, that is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580803,1580804,1580863,1358598 20634891,17681147,9063746,10024240,18586029,18270977,17331469,16381901,16341674,15489336,15489334,15461802,12910480,12477932,11979512,11574150,11076863,16712791,9540831,9373149,8125298,18544348,15215856,16525503,17872946,18199748,19615732,20471029,20702414 1580803,1580804,1358598 7353 NM_005659,AC000068,AC000087,CH471176,AF141201,AJ239058,AK128120,AK225877,AK304734,AK308786,AK310950,AK315998,AY101594,BC001049,BC005087,BM761958,BX648374,BX648483,CB128364,CR456607,CR594272,CR607101,CR616266,U64444,NM_001035247,AW131352,DB496066,DB570679 NP_001030324,NP_005650,EAX03037,EAX03038,AAD28788,CAC20414,BAG65495,BAH14369,AAM48288,AAH01049,AAH05087,CAG30493,AAD08720,Q541A5,Q92890,CAL37746,CAK54634,CAK54933 Hs.474213 UFD1 OTTHUMP00000196400|OTTHUMP00000208104|OTTHUMP00000208105|UB fusion protein 1|ubiquitin fusion degradation 1-like|ubiquitin fusion degradation protein 1 homolog protein-coding 1344837 UFM1 ubiquitin-fold modifier 1 UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM] 19690564,20562859,17353931,16527251,15489334,15146197,15071506,15057823,14702039,12477932,11483580,11042152,8889548,20018847 51569 CB070175,AL356863,CH471075,AB154404,AF208844,AF305827,AF369953,AK095490,AK307111,AK309914,AL515797,BC005193,BI458294,BM683574,BQ002588,BU069122,NM_016617,CN362375,CR457189,Z70222 NP_057701,CAH70411,CAH70412,CAH70414,EAX08605,BAD15373,AAF64258,AAK55530,AAH05193,CAG33470,CAA94181,P61960,Q96JQ7 Hs.643655,Hs.727566 BM-002|C13orf20|bA131P10.1 OTTHUMP00000018801|ubiquitin-fold modifier 1 protein-coding 1350578 UFS urofacial syndrome 9199567 7354 1604425 UFSP1 UFM1-specific peptidase 1 (non-functional) 18321862,17182609,16344560,15489334,12690205,12477932,11239002,20639392 402682 NM_001015072,AC011895,AF312032,CH236956,AK292467,BC017456,BC067904,DB073745 NP_001015072,AAK21004,EAL23814,BAF85156,AAH67904,Q6NVU6 Hs.534845 UFSP inactive Ufm1-specific protease 1 protein-coding 1605068 UFSP2 UFM1-specific peptidase 2 12358155,10737800,17182609,16344560,15489334,15342556,14702039,12477932 55325 NM_018359,NR_028085,AC106897,CH471056,AK002062,AK091635,BC010493,BF735169,BP264462,CA432183,CR457278,CR593750,CR602491,CR604246,CR610255,CR613186,CR615741,CR622569,CR622820,DA537391 NP_060829,EAX04645,EAX04646,BAA92064,BAG52396,AAH10493,CAG33559,Q9NUQ7 Hs.713548 C4orf20|FLJ11200 OTTHUMP00000218202|OTTHUMP00000218203|ufm1-specific protease 2 protein-coding 1349188 UGCG UDP-glucose ceramide glucosyltransferase Glycosphingolipids (GSLs) are a group of membrane components that contain lipid and sugar moieties. They are present in essentially all animal cells and are believed to have important roles in various cellular processes. UDP-glucose ceramide glucosyltransferase catalyzes the first glycosylation step in glycosphingolipid biosynthesis. The product, glucosylceramide, is the core structure of more than 300 GSLs. UGCG is widely expressed and transciption is upregulated during keratinocyte differentiation. [provided by RefSeq] 1580863 20533270,8643456,9545298,18560890,18155680,17709137,16500619,15747776,15661399,15489334,15263008,14766899,12873973,12489486,12477932,11915344,11335714,10945987,9605861,8901638,1533793,20540746 7357 NM_003358,AL442066,CH471105,AJ420423,AK314847,BC038711,D50840 NP_003349,CAI15902,EAW59091,EAW59092,BAG37364,AAH38711,BAA09451,Q16739 Hs.304249,Hs.593014 GCS|GLCT1 GLCT-1|UDP-glucose:N-acylsphingosine D-glucosyltransferase|ceramide glucosyltransferase|glucosylceramide synthase protein-coding 734073 UGDH UDP-glucose dehydrogenase The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. [provided by RefSeq] 1334484,1300048,1580863 20691680,9737970,17927902,17209547,17073734,16495656,16021519,16002992,15898741,15489334,15247292,15146197,15044486,14702039,12682078,12477932,10973831,10575217,9850599,16169070,11329013,16344560,17482904,18717819,19358821,19676054,20421487 1334484 7358 NM_003359,AC021148,AJ272152,AJ272274,AJ276162,AJ276163,AJ276164,CH471069,AF049126,AF061016,AJ007702,AK097930,AK297737,AL699883,BC013430,BC022781,CN405740,AL708740,AU131705,BG194936,NM_001184700,NM_001184701 Q9NQ81,Q9NQ82,Q9NQ83,Q9NY20,ABM82042,ABM85221,NP_003350,CAB75402,CAB75891,CAB98177,CAB98178,CAB98179,EAW92936,EAW92937,EAW92938,AAC05135,AAC36095,CAA07609,BAG53554,BAG60087,AAH22781,O60701,NP_001171629,NP_001171630 Hs.572518 GDH|UDP-GlcDH|UDPGDH|UGD OTTHUMP00000218416|OTTHUMP00000218417|OTTHUMP00000218419|UDP-Glc dehydrogenase|UDP-glucose 6-dehydrogenase|UDP-glucose dehydrogenase|udp-glucose dehydrogeanse|uridine diphospho-glucose dehydrogenase protein-coding 1343925 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 1580863 15489334,20498017,10694380,16344560,15342556,14702039,12913004,12682060,12477932,11278576,17353931,19466607,18303019 56886 NM_020120,NR_027671,AC017079,AC108059,CH471103,AF227905,AK023240,AK023671,AK074251,AK074376,AK293066,AK309101,BC041098,BC047727,BP356698,DB226703 NP_064505,AAY14735,AAY14885,EAW95356,AAF66232,BAB14632,BAF85755,AAH41098,Q9NYU2 Hs.34180 FLJ21763|FLJ23671|FLJ23796|HUGT1|UGCGL1|UGT1 UDP--Glc:glycoprotein glucosyltransferase|UDP-glucose ceramide glucosyltransferase-like 1|UDP-glucose:glycoprotein glucosyltransferase 1 protein-coding 1351683 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 1580863 14702039,12913004,12477932,11991713,11278576,10694380,19615732,19851296,20198315,20379614,18303019 55757 AL136104,AL158192,AL162500,AL607038,CH471085,AF227906,AF339770,AK001735,AK021547,AL133051,BC017759,BC032302,BC067807,BC111021,BC125233,BC125234,CR595411,CR614801,NM_020121 NP_064506,CAH72447,CAI13708,CAI40146,CAI39962,EAX08960,AAF66233,BAA91869,CAB61378,AAH17759,AAH32302,AAH67807,AAI11022,AAI25234,AAI25235,Q05D90,Q08AC9,Q2TAA6,Q6NVZ4,Q8N5K0,Q9NV86,Q9NYU1 Hs.193226,Hs.656444 FLJ10873|FLJ11485|HUGT2|MGC117360|MGC150689|MGC87276|UGCGL2|UGT2 UDP--Glc:glycoprotein glucosyltransferase 2|UDP-Glc:glycoprotein glucosyltransferase 2|UDP-glucose ceramide glucosyltransferase-like 1|UDP-glucose ceramide glucosyltransferase-like 2|UDP-glucose:glycoprotein glucosyltransferase 2 protein-coding 1349115 UGP1 UDP-glucose pyrophosphorylase 1 7359 1320978 UGP2 UDP-glucose pyrophosphorylase 2 The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 12107410,8612650,16189514,17207965,8354390,17353931,17474147,8631325,15489334,12477932,16169070,16501559,16713569,17482904,20514852,20300197 7360 NM_001001521,NM_006759,AC092588,AC114748,CH471053,AF086113,AK300731,AK314263,BC000173,BC002954,BC047004,BX537559,BX647825,CA389301,CD516624,CR602817,CR617685,CR619485,CR624254,U27460 NP_001001521,NP_006750,AAX93207,EAW99953,EAW99954,EAW99955,EAW99956,EAW99957,BAG62404,BAG36928,AAH00173,AAH02954,AAH47004,ADQ32826,AAB05640,Q16851,Q53QE9 Hs.516217 UDPG|UDPGP2|UGPP2|pHC379 OTTHUMP00000214363|UDP-glucose diphosphorylase|UDPGP|UGPase 2|UTP--glucose-1-phosphate uridylyltransferase|UTP--glucose-1-phosphate uridylyltransferase 2|UTP-glucose-1-phosphate uridyltransferase|uridyl diphosphate glucose pyrophosphorylase 2 protein-coding 1350018 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq] 2315450,2301047,2315451,2315449,1600438,1600445,1600450,1580863,2316977 20650040,17409981,17406868,17374650,17372243,17329852,17273745,17259171,17229650,17196409,17192505,17187418,17185998,17166930,17138857,17060921,17000907,16985250,16969497,16965601,16951398,16909274,16896007,16871576,16865249,16864595,16849011,16809730,16792515,16791115,16771603,16735790,16712705,16637266,16636344,16610035,16609363,16557566,16513443,16469709,16456808,16424820,16399345,16280036,16257926,16257834,16237771,16210851,16171463,16135700,16004608,15931768,15929176,15867280,15864130,15864125,15864124,15857854,15855726,15815621,15771689,15746053,15712364,15710570,15709212,15684703,15586176,15572581,15560369,15557560,15523087,15519273,15491385,15472229,15455371,15388579,15320866,15319464,15319294,15318931,15304120,15297419,15286088,15280927,15254716,15247627,15180166,15179405,15111762,15049432,15007088,14871858,14672974,14647407,14616765,14586211,14555305,14550264,12972027,12969965,12960109,12850492,12850481,12800608,12743455,12732844,12732365,12680285,12677174,12646172,12602902,12566446,12502904,12499798,12480568,12480553,12439228,12402338,12357057,12185559,12151360,12139570,12105841,12078936,11987245,11968090,11915038,11906189,11878580,11857560,11855932,11827650,11764096,11465080,11434514,11401924,11370628,11179460,11156391,11141380,11061796,11013440,10946897,10836148,10748067,10706110,10498597,10412811,9639672,9627603,9621515,9535849,9497253,9375768,9295054,9039987,8706880,8528206,8514037,8467709,8280139,8276413,8226884,8027054,7989595,7989045,7936809,7906695,7715297,7565971,3141926,3082969,2108603,1634606,1634050,12925779,12695355,20483464,20643254,20197307,20546738,12909459,20529348,19349543,19349540,19343046,19336732,19325249,19309288,19303655,19299905,19279563,19268007,19243019,19238116,19217809,19207584,19204906,19141701,19132906,19077918,19021734,19019335,18992148,18990750,18982743,18981166,18953066,18832463,18818748,18797458,18790042,18781851,18768784,18756540,18685565,18675828,18597651,18594531,18558634,18547414,18509181,18498916,18491077,18454993,18430559,18419642,18392554,18379174,18375480,1339448,1898728,8780690,19639031,19620808,19546880,19527514,19513514,19486253,19482841,19430380,19424794,19419973,19414484,19406951,19397531,19390945,19371317,19364970,19356098,19352303,18349289,18349273,18343383,18335219,18324905,18300238,18240903,18223459,18221820,18181169,18172616,18161889,18082937,18081723,18052087,18043502,18004206,17990575,17981384,17978490,17952380,17949292,17909964,17898154,17888052,17850628,17762398,17728214,17700594,17681105,17627617,17622938,17611564,17593033,17578897,17577039,17576806,17558305,17555467,17549067,17530442,17510208,17506482,17498780,17478602,17471158,17459361,17440429,17426648,12036456,20972438,12477932,16255851,19389676,19450125,19636001,19674361,19683255,19712005,19732760,19771428,19797611,19830808,19858149,19858398,19859999,19861894,19888426,19891553,19898482,19932091,19948621,19996319,20028383,20038727,20057336,20061399,20063115,20064729,20070246,20087647,20096102,20136364,20142249,20173083,20177420,20201093,20207827,20214802,20215562,20216541,20235787,20308029,20335017,20358470,20376058,20377135,20378551,20381444,20385995,20389299,20402064,20430047,20504240,20528217,20528568,18695635,19913121,20297805,20485444,20530282,20562211,20562445,20580994,20620155,20628086,20628391,20639394,20647221,20653675,20679960,20686835,20709051,20140262,20600030,20734064,20823282,20837016,20860988,20865252,20890421,20948202,20975617,21072184,21080475,20648548,20371435 2315450,2301047,2315451,2315449,1600438,1600445,1600450,2316977 54658 NM_000463,NG_002601,NG_009254,AC006985,AF110194,AF180372,AF297093,AF352795,AF357220,AY603772,CH471063,D87674,DQ374395,M84125,AK290834,AY435136,BC128414,BC128415,DQ364247,M57899 NP_000454,AAG43197,AAF01205,AAG30424,AAK31204,AAK27223,AAS99732,EAW71053,BAA25600,ABC88474,AAA61248,BAF83523,AAR95637,AAI28415,AAI28416,ABC96771,AAA63195,P22309,Q5DT03,Q9BX76,Q9H3F9,Q9UK62 Hs.554822 BILIQTL1|GNT1|HUG-BR1|UDPGT|UDPGT 1-1|UGT1|UGT1A OTTHUMP00000065199|UDP glycosyltransferase 1 family, polypeptide A1|UDP-glucuronosyltransferase 1-1|UDP-glucuronosyltransferase 1-A|UDP-glucuronosyltransferase 1A1|UGT-1A|UGT1*1|UGT1-01|UGT1.1|bilirubin UDP-glucuronosyltransferase 1-1|bilirubin UDP-glucuronosyltransferase isozyme 1|bilirubin-specific UDPGT isozyme 1|udp glycosyltransferase 1 family, polypeptide a1 protein-coding 1346968 UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq] 1580863 19244109,18570380,18556656,18161889,18052087,17603215,17558305,16475821,16019943,15618702,15489334,15117964,15057901,14672974,12910533,12847094,12695339,12477932,11901093,11465080,11434514,11179432,10836148,10748067,10497143,10024527,9647757,9325166,9295054,9271343,8467709,2108603,20800603,19913121,20297805,20628086,20089735,20972438,20732626,18725508,19414484,19419973,19898482,20007297,20007669,20379614 54575 NG_002601,AC006985,AC019072,AC114812,AF297093,CH471063,U39550,AK025403,AY435137,BC020971,BC053576,BC069210,U89508,NM_019075,NG_009254 NP_061948,AAG30417,EAW71058,AAA80547,AAR95638,AAH20971,AAH53576,AAH69210,AAB81537,Q5DT02,Q7Z6H8,Q9HAW8,Q13406 Hs.554822 UDPGT|UGT1J OTTHUMP00000065197|OTTHUMP00000065199|UDP glycosyltransferase 1 family, polypeptide A10|UDP-glucuronosyltransferase 1-10|UDP-glucuronosyltransferase 1-J|UDP-glucuronosyltransferase 1A10|UDPGT 1-10|UGT-1J|UGT1*10|UGT1-10|UGT1.10 protein-coding 1344583 UGT1A11P UDP glucuronosyltransferase 1 family, polypeptide A11 pseudogene 16141793,10836148,9295054,20041166,17475008 54574 NG_002601,U39551,NG_023769,AC019072 UGT1K pseudo 1348544 UGT1A12P UDP glucuronosyltransferase 1 family, polypeptide A12 pseudogene 17952380,16141793,10836148,9295054,20041166 54573 NG_023768,NG_002601,AC019072,U39552 UGT1L pseudo 1603459 UGT1A13P UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene 11434514,10836148 404204 NG_002601,AC019072,AF297093,NG_023770 pseudo 1347706 UGT1A2P UDP glucuronosyltransferase 1 family, polypeptide A2 pseudogene 17475008,16141793,10836148,9295054,1339448,11434514,19898482 54580 M84126,NG_002601,AC114812,NG_023771 UGT1BP pseudo 1352957 UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq] 1580863,2316977 10836148,19414484,19419973,19889628,19891553,19898482,19956635,20142249,20189675,18052087,9295054,19303655,19204906,18677463,18161889,17558304,16738032,15057901,15047194,14986168,14672974,14570768,12639971,11465080,11434514,11179460,11179432,9616184,9535849,9271343,9230212,8780690,1503396,1339448,12695355,10748067,19913121,20628086 2316977 54659 NM_019093,NG_002601,AB120359,AB120360,AB120361,AB120362,AC006985,AC114812,AF297093,AF465192,AF465193,AF465194,CH471063,M84127,AY435138,NG_009254 NP_061966,BAD12517,BAD12518,BAD12519,BAD12520,AAG30423,AAL73500,AAL73501,AAL73502,EAW71060,AAA92020,AAR95639,P35503,Q5DT01,Q75XT3,Q75XT5,Q8WX89,Q8WX90,Q8WX91,AAI66641 Hs.554822 UDPGT 1-3|UGT1C OTTHUMP00000065199|UDP glucuronosyltransferase 1A3|UDP glycosyltransferase 1 family, polypeptide A3|UDP-glucuronosyltransferase 1-3|UDP-glucuronosyltransferase 1-C|UDP-glucuronosyltransferase 1A3|UDPGT|UGT-1C|UGT1*3|UGT1-03|UGT1.3|udp glycosyltransferase 1 family, polypeptide a3 protein-coding 1343519 UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq] 1580863 9271343,1898728,19204906,18676680,18632753,18433817,18223460,18223459,18161889,17556526,15855727,15855726,15708967,15135306,15057901,14871856,14672974,14570768,12477932,12433823,11465080,11434514,10836148,10220490,9535849,9295054,8467709,8280139,8276413,1634050,1339448,12695355,19170196,19414484,19419973,19625176,19692168,19898482,20007295,20453000,19913121,20628086 54657 NG_002601,AC006985,AC114812,AF297093,AF465195,AF465196,AF465197,CH471063,M84128,AK313623,AY435139,BC121036,BC131623,BC139784,M57951,NM_007120,NG_009254 NP_009051,AAY24023,AAG30422,AAL73503,AAL73504,AAL73505,EAW71061,AAA61249,BAG36384,AAR95640,AAI21037,AAI31624,AAI39785,AAA63196,P22310,Q0VAJ1,Q53QD2,Q5DT00,Q8WX86,Q8WX87,Q8WX88 Hs.554822 HUG-BR2|UDPGT|UDPGT 1-4|UGT1D OTTHUMP00000065199|OTTHUMP00000199448|UDP glycosyltransferase 1 family, polypeptide A4|UDP-glucuronosyltransferase 1-4|UDP-glucuronosyltransferase 1-D|UDP-glucuronosyltransferase 1A4|UGT-1D|UGT1*4|UGT1-04|UGT1.4|bilirubin UDP-glucuronosyltransferase isozyme 2|bilirubin-specific UDPGT isozyme 2|udp glycosyltransferase 1 family, polypeptide a4 protein-coding 1346830 UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq] 1580863 18223459,14672974,11465080,11434514,10836148,9295054,8467709,1339448,19414484,19419973,19898482,19913121,20628086 54579 AF404268,AF404269,CH471063,M84129,AY435140,DQ383514,NG_009254,AF404267,NM_019078,NG_002601,AC006985,AC114812,AF297093,AF404263,AF404264,AF404265,AF404266 AAQ03155,AAQ03156,AAQ03157,EAW71059,AAA61250,AAR95641,ABD42927,P35504,Q5DSZ9,Q5QTD9,Q5QTE0,Q5QTE1,Q5QTE2,Q5QTE3,Q5QTE4,Q5QTE5,AAI41471,NP_061951,AAG30421,AAQ03151,AAQ03152,AAQ03153,AAQ03154 Hs.554822 UDPGT|UDPGT 1-5|UGT1E OTTHUMP00000065199|UDP glycosyltransferase 1 family, polypeptide A5|UDP-glucuronosyltransferase 1 family polypeptide A5s|UDP-glucuronosyltransferase 1-5|UDP-glucuronosyltransferase 1-E|UDP-glucuronosyltransferase 1A5|UGT-1E|UGT1*5 protein-coding 1349499 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq] 1580863 3141926,19424794,19406951,19356052,19262071,19223558,19204906,19064572,18992263,18992148,18784359,18318774,18161889,17965524,17927138,17925173,17622933,17609736,17479406,17424838,17301691,17085674,16969497,16797247,16529747,16399344,16399343,16344560,16305586,16141797,15855726,15770079,15770010,15761114,15319294,15284531,15258112,15247627,14672974,14646291,12732365,12623074,12480553,12477932,12170472,12009407,11714888,11465080,11434514,10836148,9800648,9466822,9429234,9295054,8889548,8877866,8280139,8276413,2108603,1898728,1634050,1339448,20860988,20854796,19267064,18695635,19913121,20628086,20679960,20686835,19414484,19419973,19437564,19450126,19575027,19712005,19799547,19898482,19956635,20007669,20453000,20540849 54578 NM_205862,NM_001072,NG_002601,AC006985,AC114812,AF014112,AF297093,CH471063,M84124,M84130,AY435141,BC011409,BC019861,BE463503,BM688740,BM924331,DB014621,DQ364250,J04093,NG_009254 NP_995584,NP_001063,AAB87411,AAG30420,EAW71055,AAA61247,AAC41717,AAR95642,AAH19861,ABC96774,AAA61251,P19224,Q5DSZ8,Q8WUQ4 Hs.554822 GNT1|HLUGP|HLUGP1|MGC29860|UDPGT|UDPGT 1-6|UGT1|UGT1A6S|UGT1F OTTHUMP00000065199|OTTHUMP00000199449|OTTHUMP00000199450|UDP glycosyltransferase 1 family, polypeptide A6|UDP-glucuronosyltransferase 1 family polypeptide A6s|UDP-glucuronosyltransferase 1-6|UDP-glucuronosyltransferase 1-F|UDP-glucuronosyltransferase 1A6|UGT-1F|UGT1*6|UGT1-06|UGT1.6|phenol-metabolizing UDP-glucuronosyltransferase protein-coding 1351935 UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. [provided by RefSeq] 1580863,2317503,2317157 19430315,19364970,19360737,19349540,19303655,19204906,18990750,18597651,18556656,18349289,18271934,18223459,18054330,18052087,18021430,17870518,17850628,17558305,17529886,17479406,17406868,17325733,17072959,16969497,16724991,16636344,16620591,16199544,16159430,16143514,16097053,16086712,16030093,15682470,15319294,15073122,14672974,14557274,12944498,12806614,12732365,12477932,12122597,12010889,11677206,11562393,11465080,11434514,11037804,10836148,9295054,9271343,8467709,15709193,20860988,19996319,15929176,18695635,19414484,19419973,19712005,19898482,19956635,20193274,20534012,19913121,20297805,20565459,20567810,20628086,20628391,20634891 2317503,2317157 54577 NM_019077,NG_002601,AC006985,AC114812,AF110191,AF110192,AF110193,AF296126,AF296127,AF296128,AF297093,AF434903,AF434904,AF436810,AF461758,AF502567,U39570,AY435142,BC001521,DQ383513,U89507,CS362791,NG_009254 NP_061950,AAG43194,AAG43195,AAG43196,AAK97173,AAK97174,AAK97175,AAG30419,AAQ04300,AAQ04301,AAQ04478,AAQ04806,AAQ07456,AAA80548,AAR95643,AAH01521,ABD42926,AAB81536,Q13407,Q4R0Z5,Q5DSZ7,Q5K632,Q5K672,Q5K673,Q5K674,Q96DH9,Q96PN9,Q96PP0,Q96PP1,Q9H3G0,Q9H3G1,Q9H3G2,Q9HAW7,AAI46419,AAI53173,CAL32687 Hs.554822 UDPGT|UDPGT 1-7|UGT1G OTTHUMP00000065199|UDP glycosyltransferase 1 family, polypeptide A7|UDP-glucuronosyltransferase 1 family polypeptide A7s|UDP-glucuronosyltransferase 1-7|UDP-glucuronosyltransferase 1-G|UDP-glucuronosyltransferase 1A7|UGT-1G|UGT1*7|UGT1-07|UGT1.7 protein-coding 1342708 UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq] 1580863 19244109,19225446,18946804,18568343,18454993,18052087,17603215,16397224,15319294,15247627,15057901,14672974,12920167,12847094,12639971,12433820,12042666,11901093,11465080,11434514,11179460,10836148,10497143,9705221,9647757,9535849,9295054,8467709,1339448,12695355,19996319,17339869,20972438,18695635,20732626,19913121,20297805,20565459,20628086,19414484,19419973,19898482,20147615,20379614,20453000 54576 NM_019076,NG_002601,AC006985,AC019072,AC114812,AF297093,AF465198,AF465199,AF465200,CH471063,U42604,AF030310,AF462267,AF462268,AK313488,AY435143,DQ364251,NG_009254 NP_061949,AAG30416,AAL73506,AAL73507,AAL73508,EAW71057,AAA86625,AAB84259,AAL75963,AAL75964,BAG36270,AAR95644,ABC96775,Q13460,Q5DSZ6,Q9HAW9,AAI56849 Hs.554822 UDPGT|UDPGT 1-8|UGT1A8S|UGT1H OTTHUMP00000065199|UDP glycosyltransferase 1 family, polypeptide A8|UDP-glucuronosyltransferase 1 family polypeptide A8s|UDP-glucuronosyltransferase 1-8|UDP-glucuronosyltransferase 1-H|UDP-glucuronosyltransferase 1A8|UGT-1H|UGT1*8|UGT1-08|UGT1.8 protein-coding 1348090 UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenols. [provided by RefSeq] 1580863,2325161 16198654,11465080,9639672,7989045,1910331,19494809,19364970,19349540,19225446,19204906,19082692,18981166,18946804,18816295,18675828,18602884,18597651,18568343,18502788,18430559,18279479,18221820,18052087,17965524,17924828,17761781,17700594,17576806,17558305,17529886,17440429,17406868,17339869,17264800,17115150,17072959,16636344,16397224,16344532,11434514,11370628,11061796,11013440,10946897,10836148,10385426,10335444,9847074,20732626,9627603,9621515,9295054,8706880,8467709,8280139,8276413,8226884,7989595,18695635,15864130,15855726,15815621,15712364,15709193,15489334,15470081,15370961,15286088,15284532,15258099,15115919,15057901,14672974,14660172,14550264,14521259,12944498,12847094,12623074,12582161,12477932,12402338,12139570,11854913,11677206,7906695,7715297,2108603,1898728,1634050,1339448,12695355,19644937,20089735,19414484,19419973,19571435,19715905,19881262,19898482,19951703,19956635,20007669,20147615,20214802,20379614,19913121,20297805,20565459,20628086,20628391,21072184 2325161 54600 NG_002601,AC006985,AC019072,AC114812,AF297091,AF297093,AF481810,AF481811,AY273792,AY282534,AY282535,AY282536,AY282537,AY282538,AY282539,AY282540,AY282541,AY282542,AY326393,NM_021027,AY326394,AY326395,AY345903,CH471063,AF056188,AK313510,AY435144,BC043491,BC058844,S55985,NG_009254 NP_066307,AAF03522,AAG29816,AAG30418,AAQ05894,AAQ05895,AAQ84220,AAQ84221,AAQ84222,AAQ84223,AAQ84224,AAQ84225,AAQ84226,AAQ84227,AAQ84228,AAQ84229,AAQ92914,AAQ92915,AAQ92916,AAR10772,EAW71054,AAC31425,BAG36290,AAR95645,AAH58844,AAB19791,O60656,Q330M4,Q4R0Z6,Q4R0Z7,Q53E75,Q5DSZ5 Hs.554822 HLUGP4|LUGP4|UDPGT|UDPGT 1-9|UGT1-09|UGT1AI OTTHUMP00000065199|UDP glycosyltransferase 1 family, polypeptide A9|UDP-glucuronosyltransferase 1-9|UDP-glucuronosyltransferase 1-I|UDP-glucuronosyltransferase 1A9|UGT-1I|UGT1*9|UGT1-9|UGT1.9|UGT1I|udp glycosyltransferase 1 family, polypeptide a9 protein-coding 70821 UGT1A@ UDP glycosyltransferase 1 family, polypeptide A1 1580863 7361 Q8WUQ4 69489 UGT2A1 UDP glucuronosyltransferase 2 family, polypeptide A1 The olfactory neuroepithelium, which lines the posterior nasal cavity, is exposed to a wide range of odorants and airborne toxic compounds. Odorants, which are mostly small lipophilic molecules, enter the mucus flow and reach the odorant receptors on sensory neurons. Odorant sensing is generally a transient process, requiring an effective signal termination, which could be provided by biotransformation of the odorant in the epithelial supporting cells. Xenobiotic-metabolizing enzymes in the olfactory epithelium have been suggested to catalyze inactivation and facilitate elimination of odorants.[supplied by OMIM] 1300048,1580863 19858781,19898482,11179432,10748067,10359671,19343046,16141793,12376738,11376859 10941 NM_006798,AC093829,CH471057,AJ006054,AK304249,AK314209,BC142640,BE463677,CD105882 NP_006789,EAX05593,EAX05594,CAB41974,BAG65116,Q9Y4X1,AAI56240,AAI57013 Hs.225950 OTTHUMP00000220481|OTTHUMP00000220482|OTTHUMP00000220483|UDP glycosyltransferase 2 family, polypeptide A1|UDP-glucuronosyltransferase 2A1|UDPGT 2A1 protein-coding 1601678 UGT2A2 UDP glucuronosyltransferase 2 family, polypeptide A2 16141793,9847074,10359671,15815621,19858781 574537 NM_001105677,AC093829,FJ664272,FJ664273 NP_001099147,ACV70034,ACV70035 Hs.225950 OTTHUMP00000220482|OTTHUMP00000220483|UDP-glucuronosyltransferase 2A2 protein-coding 1605934 UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 12477932,19858781,20379614,18523138,15342556,12975309,9373149,8125298,20819778 79799 NM_024743,NR_024010,AC021146,AC226496,CH471057,AK025587,AK225308,AK293381,AW194955,AY358727,AY542891,BC130533,BP262099 NP_079019,EAX05580,EAX05581,BAB15179,BAG56893,AAQ89089,AAS48425,AAI30534,Q6UWM9,ADR83210 Hs.122583 FLJ21934 UDP-glucuronosyltransferase 2A3|UDPGT 2A3 protein-coding 4890734 UGT2A3P7 UDP glucuronosyltransferase 2 family, polypeptide A3 pseudogene 7 100422023 AC093829,NG_025126 pseudo 1320630 UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 1580863 8333863,18300939,17909004,17576790,16335952,15489334,12477932,10748067,10024527,9373149,8125298,20501767,20876810 7365 NM_001075,NM_001144767,AC021146,AC226496,CH471057,AK222839,AK222872,AK292738,AK298432,BC113649 NP_001066,NP_001138239,EAX05576,EAX05577,EAX05578,BAD96559,BAD96592,BAF85427,BAG60653,AAI13650,P36537,Q53GQ9,Q53GU2 Hs.201634 MGC142209|UDPGT2B10 UDP glucuronosyltransferase 2B10|UDP-glucuronosyltransferase 2B10|UDPGT 2B10|udp glycosyltransferase 2 family, polypeptide b10 protein-coding 1345333 UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 1580863 8333863,19343046,15489334,12477932,9675083,19898482,20214802 10720 NM_001073,AC114797,AF135417,CH471057,AF016492,BC069441,BC107059,BC107060,AC111000 NP_001064,AAY41046,AAF78146,EAX05586,EAX05587,AAC27891,AAH69441,AAI07060,AAI07061,O75310,Q4W5B9,Q9NS17 Hs.339811 MGC129611|MGC129612 UDP glycosyltransferase 2 family protein|UDP glycosyltransferase 2 family, polypeptide B11|UDP-glucuronosyltransferase 2B11|UDPGT 2B11 protein-coding 1343349 UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 The UGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. UGT2B8 demonstrates reactivity with estriol. See UGT2B4 (MIM 600067).[supplied by OMIM] 1580863 7835232,9295060,9202245,8399210,7835904,7574722,3100939,2116769,12695355,19487245,19343046,18496127,18302198,18281521,18161889,17988216,17848572,17698910,17687269,17576806,17507624,17244352,16859836,16690804,16513443,15961980,15952058,15815621,15666817,15618667,15318931,15126881,15065092,15044558,12880121,12646996,12477932,12386133,12376738,12010866,11129427,10748067,10468930,10024527,19572376,19847790,19898482,19916996,19956635,20142249 7366 AAB28536 AC019173,AC147055,AF179404,CH471057,AF180322,AF548389,AK289419,BC171879,U06641,U08854,NM_001076 NP_001067,AAF25010,EAX05574,AAD55093,AAN40695,BAF82108,AAI71879,AAA83406,AAC50077,AAB28536,P54855,Q9UHH3,AAI41424,AAI46571 Hs.150207 HLUG4|UDPGT 2B8|UDPGT2B15|UDPGTH3|UGT2B8 UDP glycosyltransferase 2B15|UDP-glucuronosyltransferase 2B15|UDP-glucuronosyltransferase 2B8|UDP-glucuronosyltransferase UGT2B15|UDP-glucuronyltransferase, family 2, beta-15|UDPGT 2B15|UDPGTh-3|udp glycosyltransferase 2 family, polypeptide b15 protein-coding 1350006 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 UGT2B17 belongs to the family of UDP-glucuronosyltransferases (UGTs; EC 2.4.1.17), enzymes that catalyze the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a variety of substrates, including steroid hormones.[supplied by OMIM] 1580863 18302198,8798464,19574343,19318555,19282302,19224506,19088161,19056415,18992858,18760392,18334593,17988216,17935910,17848572,17826523,17698910,17416778,17387331,16896035,16332934,16220109,15666817,11853692,9364925,6746859,76619,18281521,18247404,18093280,20628005,19572376,19935662,20056642,20142249,20192879,20429943,20554747,20878390,20876810 7367 NM_001077,AC134921,AC147055,CH471293,U59209,NG_017033 NP_001068,EAW55622,AAC25491,O75795,AAI41518 Hs.575083 UDPGT2B17 C19-steroid-specific UDP-glucuronosyltransferase|C19-steroid-specific UDPGT|UDP glycosyltransferase 2 family, member B17|UDP-glucuronosyltransferase 2B17|UDP-glucuronyltransferase, family 2, beta-17 protein-coding 1353542 UGT2B24P UDP glucuronosyltransferase 2 family, polypeptide B24 pseudogene 10623541 54572 NG_001282,AC108078,AF179876 pseudo 1347362 UGT2B25P UDP glucuronosyltransferase 2 family, polypeptide B25 pseudogene 9847074,10623541 54571 AC108078,NG_025224,NG_001281,AC114786,AF179877 pseudo 1343331 UGT2B26P UDP glucuronosyltransferase 2 family, polypeptide B26 pseudogene 10623541 54570 AC107401,NG_001280,AF179878 pseudo 1346099 UGT2B27P UDP glucuronosyltransferase 2 family, polypeptide B27 pseudogene 10623541 54569 NG_001279,AC107401,AF179879 pseudo 1349165 UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 1580863 11300766,19572376,19898482,20056642 54490 NM_053039,AC114786,CH471057,AB451456,AF177272,AF177273,AF177274 NP_444267,EAX05588,EAX05589,EAX05590,BAG70270,AAK31807,AAK31808,AAK31809,Q9BY64,AAI56173,AAI57012 Hs.653154 OTTHUMP00000220488|UDP glycosyltransferase 2 family, polypeptide B28|UDP-glucuronosyltransferase 2B28|UDPGT 2B28 protein-coding 1345630 UGT2B29P UDP glucuronosyltransferase 2 family, polypeptide B29 pseudogene 10623541 54568 NG_001278,AC079749,AF179880 pseudo 1344144 UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 1580863 19913121,20628086,8687483,7835904,3109396,2492950,1554722,13929,8333863,19343046,18161889,17263731,16849011,16513443,16344560,15489334,15319348,15318931,12810707,12806625,12477932,10748067,10376768,10222050,9295054,9271674,18052087,19898482,20139797,20142249,20214802,20734064 7363 NM_021139,AC093829,AC108078,AF135416,CH471057,DQ520733,AF064200,AF081793,AJ005162,AK292748,AK300084,AY529122,BC026264,DB185148,Y00317 NP_066962,AAF78145,EAX05591,EAX05592,ABF47107,AAC95002,AAC32272,CAA06396,BAF85437,BAG61887,AAS47487,AAH26264,CAA68415,P06133,Q6QQX7,ABM86129 Hs.285887 HLUG25|UDPGT2B4|UDPGTH1|UGT2B11 OTTHUMP00000220486|UDP glucuronosyltransferase 2B4|UDP-glucuronosyltransferase 2B4|UDP-glucuronyltransferase, family 2, beta-4|UDPGT 2B4|UDPGTh-1|hyodeoxycholic acid|hyodeoxycholic acid-specific UDPGT|udp glycosyltransferase 2 family, polypeptide b4 protein-coding 1351542 UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 The UGTs (EC 2.4.1.17) serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. UGT2B7 has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Its subcellular location is the microsome.[supplied by OMIM] 1580863 20297805,20565459,20567810,20634197,20679960,20814162,17440429,11883901,11186130,10833461,10779377,10748067,10222050,10024527,9373149,8674824,8125298,7835904,12695355,19644937,18052087,2159463,19628728,19574343,19494809,19424794,19408577,19352303,19343046,19289110,19244109,19225446,18946804,18719619,18647858,18641546,18622263,18622261,18597651,18569595,18496127,18315786,18161889,17978490,17965522,17924828,17724700,17706742,17687269,17670842,17579197,17446261,17442341,17429314,17363580,17339869,17329852,17263731,17241877,17178267,17115150,16849011,16595916,16580900,16466707,16397224,16103897,15815621,15689421,15615884,15611481,15489334,15472229,15320866,15319348,15318931,15001974,14871856,14660172,12811366,12746330,12629580,12623074,12477932,12185559,19116784,19730281,19779319,19898482,19956635,20008037,20056642,20064729,20142249,20147615,20216122,20379614,20734064,20860463,20973683,21044367 7364 NM_001074,AC111000,AF282881,AY185169,CH471057,AK223142,AK313190,AW614236,BC030974,J05428,S82485 NP_001065,AAY41045,AAG01472,AAO65542,EAX05582,EAX05583,EAX05584,EAX05585,BAD96862,BAG36007,AAH30974,AAA36793,AAD14400,P16662,Q5QKR3,Q99912,Q9HCT7,ABM84583,ABM86740 Hs.654424 UDPGT 2B9|UDPGT2B7|UDPGTH2|UGT2B9 3,4-catechol estrogen specific|3,4-catechol estrogen-specific UDPGT|OTTHUMP00000218892|OTTHUMP00000218893|UDP glucuronosyltransferase 2B7|UDP-glucuronosyltransferase 2B7|UDP-glucuronosyltransferase 2B9|UDP-glucuronyltransferase, family 2, beta-7|UDPGT 2B7|UDPGTh-2|udp glycosyltransferase 2 family, polypeptide b7 protein-coding 1350116 UGT2B@ UDP glycosyltransferase 2 family, polypeptide B cluster 1639428 7362 1601933 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 18981171,14702039,12477932,20800603,20379614 133688 NM_152404,AC016612,AC112204,CH471119,AK057066,AK091977,AK125803,AK290809,AK296136,AK303770,AK308046,AK315851,BC035012,BC068446,AI244517,NM_001171873 NP_689617,EAW55927,EAW55928,EAW55929,BAB71358,BAF83498,BAH12266,BAH14044,BAF98742,AAH35012,AAH68446,Q6NUS8,Q8IYS9,NP_001165344 Hs.254699 FLJ26528|FLJ34658 OTTHUMP00000221783|OTTHUMP00000221784|UDP-glucuronosyltransferase 3A1|UDPGT 3A1 protein-coding 1604978 UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 16303743,12975309,12477932,16344560,20819778 167127 NM_174914,AC016612,CH471119,CS051177,AK075383,AK300751,AK303154,AY358416,BC103924,BC103925,DB110369,NM_001168316,NR_031764 NP_777574,EAW55931,CAI72084,BAC11583,BAG62419,BAG64257,AAQ88782,AAI03925,AAI03926,Q3SY77,NP_001161788 Hs.348941 MGC119426|MGC119429 OTTHUMP00000221219|UDP-glucuronosyltransferase 3A2|UDPGT 3A2 protein-coding 1343181 UGT8 UDP glycosyltransferase 8 Galactocerebrosides are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system and are also present in small amounts in kidney. The key enzymatic step in the biosynthesis of galactocerebrosides consists of the transfer of galactose to ceramide catalyzed by UDP-galactose ceramide galactosyltransferase (CGT, EC 2.4.1.45). The enzyme encoded by the CGT gene is the first involved in complex lipid biosynthesis in the myelinating oligodendrocyte.[supplied by OMIM] 1580863 8661025,19343046,16344560,16125333,15489334,15229398,12925779,12477932,12376738,9748263,9373149,9125199,8125298,8457384,7941321,19125296,19898482,20332099,20648017 7368 NM_001128174,NM_003360,AC122938,AC127386,CH471057,U32370,AK127970,AK225763,AK294438,BC075069,DA140992,DA295156,U30930,U62899 NP_001121646,NP_003351,EAX06307,AAC50815,BAG54609,BAG57681,AAH75069,AAC50565,AAC51187,Q16880 Hs.144197 CGT|UGT4 2-hydroxyacylsphingosine 1-beta-galactosyltransferase|UDP-galactose ceramide galactosyltransferase|UDP-galactose-ceramide galactosyltransferase|ceramide UDP-galactosyltransferase|cerebroside synthase|uridine diphosphate glycosyltransferase 8 protein-coding 1344907 UHMK1 U2AF homology motif (UHM) kinase 1 1580863 12093740,17474147,18414510,18384876,17984092,17726090,16978587,16710414,15489334,12782393,12477932,10574929,7724523,18316326,19747464 127933 NM_175866,AL359699,CH471067,CS300608,AJ536197,AK058195,AK292369,BC014917,BC026046,AL834136,AK026668,AL137257,BC001977,BC043436,NM_001184763,NM_144624 NP_787062,CAH70392,EAW90706,EAW90707,EAW90708,EAW90709,CAK32272,CAD60192,BAF85058,AAH14917,AAH26046,Q5JPA7,Q8TAS1,CAI46199,BAG10683,NP_001171692,NP_653225 Hs.127310 DKFZp434C1613|FLJ23015|KIS|KIST KIS protein kinase|kinase interacting with leukemia-associated gene (stathmin)|serine/threonine-protein kinase Kist protein-coding 1352913 UHRF1 ubiquitin-like with PHD and ring finger domains 1 This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 10646863,17934516,19491893,19328461,19270723,19077538,19056828,18945682,18772889,18005238,17967883,17673620,17081983,17067204,17065439,16964243,16344560,16195352,16007129,15964557,15361834,15178447,15146197,15057824,15033738,15009091,14993289,14702039,12838312,11290415,8889549,12477932,19798101,19800870,19851296,20198315,20613874,19943104 29128 NM_001048201,NM_013282,AB075601,AC027319,AC053467,AC104525,AF220266,AF220267,AY787925,CH471139,AA026356,AB177623,AB177624,AF129507,AF274048,AK025578,AK074377,AK289389,AK303361,AK307239,AK314579,BC039136,BC046179,BC113875,CN335888,DA451120,EF560733 NP_001041666,NP_037414,BAC20576,AAF64067,AAV40831,EAW69187,EAW69188,EAW69189,BAF36719,BAF36720,AAF28469,AAK55744,BAB15177,BAF82078,BAG64421,BAG37156,AAI13876,ABQ59043,Q2HIX7,Q96T88,ABZ92323 Hs.108106 FLJ21925|ICBP90|MGC138707|Np95|RNF106|hNP95 E3 ubiquitin-protein ligase UHRF1|RING finger protein 106|huNp95|inverted CCAAT box-binding protein of 90 kDa|nuclear protein 95|nuclear zinc finger protein Np95|transcription factor ICBP90|ubiquitin-like PHD and RING finger domain-containing protein 1|ubiquitin-like, containing PHD and RING finger domains, 1|ubiquitin-like-containing PHD and RING finger domains protein 1 protein-coding 1316354 UHRF1BP1 UHRF1 binding protein 1 15361834,14702039,14574404,12477932,19838195,21068098 54887 NM_017754,AL033520,AL139100,CH471081,AA287944,AB126777,AK001228,AK122918,AK127691,BC026164,BC137120,BC137127,BX640641,DB636320 NP_060224,CAI20282,CAI20353,EAX03798,EAX03799,BAD32740,AAI37121,AAI37128,CAE45788,Q6BDS2,Q6N082 Hs.700656 C6orf107|FLJ20302|ICBP90|RP3-349A12.1|dJ349A12.1 CG31653-PA-like|ICBP90 binding protein 1|ICBP90-binding protein 1|UHRF1 (ICBP90) binding protein 1|UHRF1-binding protein 1|ubiquitin-like containing PHD and RING finger domains 1-binding protein 1 protein-coding 1604632 UHRF1BP1L UHRF1 binding protein 1-like 12477932,9734811 23074 NM_015054,NM_001006947,AC010203,AC126474,CH471054,AB014601,AK026472,AK125813,AL136821,AL833850,BC003391,BC014891,BC026286,BC127017,BX647380,CB988442 NP_055869,NP_001006948,EAW97619,EAW97620,BAA31676,CAB66755,CAD38709,AAH03391,AAH14891,AAH26286,AAI27018,CAH56181,A0JNW5,Q63HQ7 Hs.620701 KIAA0701 UHRF1 (ICBP90) binding protein 1-like|UHRF1-binding protein 1-like protein-coding 1320632 UHRF2 ubiquitin-like with PHD and ring finger domains 2 This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. [provided by RefSeq] 15178429,14741369,12176013,19218238,15489334,15361834,15231748,15164053,14702039,12477932,18029348,19549727,19690564,19818775,20379614 115426 NM_152896,AL133480,AL353718,CH471071,AB071698,AF274049,AK122730,AK308433,AL137728,AL833522,BC028397 NP_690856,CAI13293,CAI13294,CAI13295,CAH74119,CAH74120,EAW58743,BAB68317,AAM33799,BAG53694,CAH56383,CAH10389,AAH28397,Q69YI0,Q96PU4,ABW03737,ABW03403 Hs.493401 DKFZp434B0920|DKFZp686G0837|MGC33463|NIRF|RNF107|RP11-472F14.2|URF2 E3 ubiquitin-protein ligase UHRF2|Np95-like ring finger protein|RING finger protein 107|np95/ICBP90-like RING finger protein|nuclear protein 97|nuclear zinc finger protein NP97|ubiquitin-like PHD and RING finger domain-containing protein 2|ubiquitin-like, containing PHD and RING finger domains, 2|ubiquitin-like-containing PHD and RING finger domains protein 2 protein-coding 1601999 UIMC1 ubiquitin interaction motif containing 1 16169070,17416745,19202061,19433585,19448621,19615732,17525341,17525342,19261749,17525340,17643121,19261748,12080054,19261746,19415121,19328070,19305427,19064572,18695986,18550271,18519686,18306035,18270812,18077395,17698038,17621610,17562356,17081983,15489334,15302935,15231748,14702039,12954732,15342556,12477932 51720 BP270983,CF994701,NM_001199297,NM_001199298,AC027317,AC027318,CH471195,CS300600,AF113538,AF284749,AF284753,AF349313,AK023044,AK304794,AL137375,BC006078,BC032561,BX537376,CR603572,CR609161,CR619611,EF077642,EF077644,NM_016290 Q9NTC5,ACE87372,ACE86688,NP_001186226,NP_001186227,NP_057374,EAW85041,EAW85042,EAW85043,EAW85044,EAW85045,EAW85046,CAK32264,AAF14875,AAG59851,AAG59855,AAK61871,BAG51153,BAG65544,CAB70716,AAH06078,AAH32561,CAD97618,Q96RL1 Hs.232721 RAP80|X2HRIP110 BRCA1-A complex subunit RAP80|OTTHUMP00000223372|OTTHUMP00000223374|receptor associated protein 80|receptor-associated protein 80|retinoid X receptor-interacting protein 110|retinoid x receptor interacting protein|ubiquitin interaction motif-containing protein 1 protein-coding 1345767 ULBP1 UL16 binding protein 1 1580863 15489334,15240696,15051759,12847260,12782710,12753652,12477932,11827464,11777960,11491531,19414815,16901903,20870941,20923822,11239445,18394338,19500498,19688209,19798433,20219610,20237496,21048031 80329 NM_025218,AL355497,CH471051,AB052907,AF304377,AF346416,AF346595,AF425265,AK292519,AK316582,BC035416 NP_079494,CAH74121,EAW47776,BAB61049,AAK13081,AAL76416,AAN40838,AAN32759,BAF85208,BAG38170,AAH35416,Q5VY81,Q9BZM6 Hs.653255 RAET1I N2DL-1|NKG2D ligand 1|NKG2DL1|OTTHUMP00000017410|UL16-binding protein 1|alcan-beta|retinoic acid early transcript 1I protein-coding 1346628 ULBP2 UL16 binding protein 2 1580863 11239445,18676862,19508374,19424970,19151770,19089914,18791713,18706445,17391757,15489334,15051759,12975309,12847260,12782710,12753652,12477932,11827464,11777960,11491531,11444831,12582175,19671853,19688209,19798433,20219610,20237496,20428196,20054857,21048031 80328 NM_025217,AL583835,CH471051,AB052906,AF304378,AF321606,AK299895,AY026825,AY358665,BC034689 NP_079493,CAH71655,EAW47777,EAW47778,BAB61048,AAK13082,AAN39920,BAG61739,AAK07688,AAQ89028,AAH34689,Q8IZX9,Q9BZM5 Hs.656778 N2DL2|RAET1H ALCAN-alpha|N2DL-2|NKG2D ligand 2|NKG2DL2|UL16-binding protein 2|retinoic acid early transcript 1 H|retinoic acid early transcript 1H protein-coding 1353152 ULBP3 UL16 binding protein 3 1580863 11239445,15051759,12753652,12477932,11827464,11777960,11754823,11491531,21048031,18394338,19688209,19798433,20219610,20237496,20596022,20530255 79465 NM_024518,AL355497,CH471051,AB052908,AF304379,AF346596,AK297815,AK302076,AK315275,AY027538,BC098127 NP_078794,CAH74128,EAW47772,BAB61050,AAK13083,AAN40839,BAG60153,BAG63465,BAG37687,AAK13049,AAH98127,Q5VY82,Q9BZM4 Hs.326556 RAET1N ALCAN-gamma|N2DL-3|NKG2D ligand 3|NKG2DL3|OTTHUMP00000017411|UL16-binding protein 3|retinoic acid early transcript 1N protein-coding 1344835 ULK1 unc-51-like kinase 1 (C. elegans) 1643329,1580863,4889529 11146101,9693035,18007665,16940348,17595159,19258318,19225151,19211835,18936157,17192257,17081983,15014045,14702039,12477932,11076863,9872452,8889548,17353931,20562859,19287211,19690328 1643329,4889529 8408 NM_003565,AC131009,CH471054,AB018265,AF045458,AK095774,AK128333,BI822269,BU729635,CF131673,HI574274 NP_003556,EAW98529,BAA34442,AAC32326,O75385,AAI11604,CBX47626 Hs.47061 ATG1|ATG1A|FLJ38455|FLJ46475|UNC51|Unc51.1 ATG1 autophagy related 1 homolog|serine/threonine-protein kinase ULK1 protein-coding 1320930 ULK2 unc-51-like kinase 2 (C. elegans) This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 4889529 18029348,19225151,16344560,16169070,15489334,15014045,14702039,12477932,10557072,9734811,20379614,20562859 4889529 9706 NM_014683,NM_001142610,AC005722,AC015726,CH471212,AB014523,AK098316,AK314345,AL080134,BC034988,BC039310,CR591285,CR613562,DA105030 NP_055498,NP_001136082,EAW50910,EAW50911,EAW50912,BAA31598,BAG53611,AAH34988,Q8IYT8 Hs.168762 ATG1B|KIAA0623|Unc51.2 serine/threonine-protein kinase ULK2 protein-coding 1349871 ULK3 unc-51-like kinase 3 (C. elegans) 1580863 20643644,19430479,19141860,15489334,12477932,20959405,21045733,19878745,20479155 25989 NM_001099436,AC091230,AK075047,AK293181,AK293650,AK294241,AK294245,AK294251,AK298879,AK299380,AK316102,AL360256,BC036117,BC048289,BC056423,BC157884,BI829133,BQ927030,CR614098,CR617200,AL117482 NP_001092906,BAG56723,BAG57102,BAG57537,BAG57541,BAG57547,BAG60995,BAG61369,CAB55955,CAB96176,AAI57885,Q6PHR2,BAH14473 Hs.513034 DKFZp434C131|FLJ90566 serine/threonine-protein kinase ULK3 protein-coding 1346964 ULK4 unc-51-like kinase 4 (C. elegans) 737633,1580863 20379614,20414254,19430479,15489334,14702039,12477932,11181995,10737800,11829490,21045733 737633 54986 NM_017886,AC097356,AC099059,AC099537,AC104305,AC104307,AC137935,CH471055,AK000581,AK093396,AK304341,AL133104,AW504756,BC014794,BC018795,BC040739,BF855180,BQ707161,BX096790,DC417397 NP_060356,EAW64629,EAW64630,EAW64631,EAW64632,EAW64633,EAW64634,EAW64635,EAW64636,BAA91270,BAG52707,BAG65186,CAB61411,AAH14794,AAH40739,Q96C45,AAI60098 Hs.656192 DKFZp434E1822|FAM7C1|FLJ20574|REC01035 serine/threonine-protein kinase ULK4 protein-coding 737075 UMOD uromodulin This gene encodes uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq] 737832,1580863,2324705 20075439,20624112,20686651,20383146,20172860,2409603,18025791,7873609,19430482,19203555,18950917,18846391,18651238,18600511,18455532,18409531,18409515,18375198,18351395,18068104,18047931,17245395,17151335,17065110,17010121,16982955,16164624,15983957,15785410,15589826,15575003,15489334,15327389,15266028,15253706,15086896,15033942,14907962,14702039,14570881,14570709,14569098,14531790,12900848,12832729,12629136,12624657,12477932,12471200,11982485,11932463,11730273,10765940,10330352,9884403,9873244,8382593,3498215,3453112,2249987,8323280,8397318,20151160,18830570,19465746,19959715,20222955,20237496,21067798,21082022 737832,2324705 7369 NM_003361,NM_001008389,NG_008151,AC106796,AY061638,AY162970,CH471186,AK055722,AK091961,AK096043,AK127643,AK127648,BC035975,BF593229,BG428950,M15881,M17778 NP_003352,NP_001008390,AAL27853,AAO64446,EAW50314,EAW50315,BAG51560,BAG52451,BAG53202,BAC87070,BAG54541,AAH35975,AAA36798,AAA36799,P07911,Q8NHW8 Hs.654425 ADMCKD2|FJHN|HNFJ|HNFJ1|MCKD2|THGP|THP OTTHUMP00000162213|Tamm-Horsfall glycoprotein|tamm-Horsfall urinary glycoprotein|uromodulin|uromodulin (uromucoid, Tamm-Horsfall glycoprotein)|uromucoid protein-coding 1351162 UMODL1 uromodulin-like 1 20237496,20379614,16026467,15194491,14702039,12477932,10830953,18535602 89766 NM_173568,NM_001004416,AP001620,AP001621,AP001622,CH471079,AB051810,AB051811,AB096965,AB096966,AB096967,AB096968,AB096969,AB096970,AB096971,AB096972,AB096973,AK093654,AK124223,AY771619,AY771620,BC039531,NM_001199527,NM_001199528 NP_775839,NP_001004416,EAX09576,BAD23798,BAD23799,BAD23800,BAD23801,BAD23802,BAD23803,BAD23804,BAD23805,BAD23806,BAD23807,BAD23808,BAC04211,AAX14814,AAX14815,Q5DID0,Q6L9N1,Q6L9N2,Q6L9N3,Q6L9N4,Q6L9N5,Q6L9N6,Q6L9N7,Q6L9N8,Q6L9N9,AAI67790,NP_001186456,NP_001186457 Hs.242520 OTTHUMP00000109312|OTTHUMP00000109313|olfactorin|uromodulin-like 1 protein-coding 1323612 UMPS uridine monophosphate synthetase 1580863,1599702 20647221,20665215,9042911,6893554,11730338,15890648,19332728,19307741,19082440,19074750,19020767,19020740,18949394,18633253,18597678,17854773,17607371,17549346,17237621,16818689,16328050,16169070,16142362,15999119,15489334,14562021,12477932,8069469,6574608,3279416,2767686,2624233,20527751,17505114,18184586,19615732,19724871,20112501,20453000,20647710 1599702 7372 AB041359,AC022336,AY691629,CH471052,AB062285,AK291306,AL080099,BC000364,BC007511,CR456787,CR590318,CR592156,CR593249,CR597849,CR599292,CR601942,CR604719,CR608134,CR614357,CR618739,CR623728,CR624319,CR625054,D86227,D86228,D86230,EU921886,EU921887,EU921888,EU921889,EU921890,EU921891,EU921892,NM_000373,EU921893,EU921894,EU921895,J03626,M36661,NG_017037,NR_033434,NR_033437 NP_000364,BAB20663,AAT85801,EAW79407,EAW79408,BAB93468,BAF83995,CAB45710,AAH00364,AAH07511,CAG33068,BAA19920,BAA19921,BAA19923,ACH48224,ACH48225,ACH48226,ACH48227,ACH48228,ACH48229,ACH48230,ACH48231,ACH48232,ACH48233,AAA61255,AAA61256,P11172,ACE87598,ACE86911 Hs.2057 OPRT OMPdecase|OPRTase|OTTHUMP00000215266|UMP synthase|orotate phosphoribosyltransferase|orotidine 5'-phosphate decarboxylase|uridine 5'-monophosphate synthase|uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) protein-coding 1343859 UNC119 unc-119 homolog (C. elegans) This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 70051,1580863 9538874,10329014,17579091,16341674,16189514,16169070,15489334,14757743,14702039,12527357,12496276,12477932,11303027,9761287,8576185,20801516,19592652,19781630,20220094 70051 9094 NM_054035,NM_005148,NG_012302,AC005726,AF125997,AF125998,CH471159,AF028788,AF028789,AK124531,AK292329,BC027176,BM848267,BX641031,BX647747,BX648530,CR600662,CR600663,CR609095,CR613554,CR621178,U40998 NP_473376,NP_005139,AAD31422,EAW51093,EAW51094,EAW51095,EAW51096,EAW51097,EAW51098,AAD01875,AAD01876,BAG54049,BAF85018,AAH27176,CAE46019,AAC50360,Q13432,Q6MZL1 Hs.410455 HRG4|POC7|POC7A OTTHUMP00000163440|POC7 centriolar protein homolog A|protein unc-119 homolog A|retinal protein 4 protein-coding 1345863 UNC119B unc-119 homolog B (C. elegans) 16541075,15489334,14702039,12477932,11181995,19913121,20628086 84747 BC004815,BC070088,NM_001080533,AC069234,CH471054,AK057021,AK126367,AL137327 CAH10700,AAH04815,A6NIH7,Q69YW6,Q9BST3,ABM84260,ABM87649,ABM87661,ABW03603,ABW03606,NP_001074002,EAW98215,EAW98216,EAW98217,BAG54314 Hs.127610 MGC5139|POC7B POC7 centriolar protein homolog B|protein unc-119 homolog B|unc119 homolog B protein-coding 1345956 UNC13A unc-13 homolog A (C. elegans) Proteins of the UNC13 family, such as UNC13A, are diacylglycerol and phorbol ester receptors with ligand affinities similar to those of protein kinase C (see PRKCA; MIM 176960). Rodent Unc13a is a presynaptic protein with an essential role in synaptic vesicle priming (Rossner et al., 2004 [PubMed 15123597]).[supplied by OMIM] 2311087,1580863 20385924,15123597,14702039,12871971,10470851,14734538,12477932,16344560,19734901,20379614 2311087 23025 NM_001080421,AC008761,AB028955,AK055065,BC011004,DA236619,R60139 NP_001073890,BAA82984,Q9UPW8,AAI72223 Hs.164502 KIAA1032|Munc13-1 protein unc-13 homolog A protein-coding 734027 UNC13B unc-13 homolog B (C. elegans) This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq] 1580863 9607201,10233166,19492809,18633107,16138900,15466010,15342556,14593078,12871971,12477932,12163476,11797009,11343654,10488064,9736751,9704016,9195900,8999968,16169070,19615732,19641095,20379614 10497 NM_006377,AL160274,AL353795,AL354669,CH471071,AB209998,AF020202,AK296836,BC111781,BC111800,BP236693 NP_006368,CAH73361,CAH73362,CAH71003,CAH71004,CAH71207,CAH71208,EAW58383,EAW58384,BAE06080,AAC19406,BAG59406,AAI11782,O14795,Q2NKJ5,Q4LE73,AAI11801 Hs.493791 MGC133279|MGC133280|MUNC13|UNC13|Unc13h2|hmunc13 OTTHUMP00000021328|UNC13-like|homolog of rat Munc13 (diacylglycerol-binding)|munc13-2|munc13-2 protein|protein unc-13 homolog B|unc-13-like protein-coding 1354378 UNC13C unc-13 homolog C (C. elegans) 1580863 19240061,18519826,14702039,12477932,17903293,19734545,20379614 440279 NM_001080534,AC010867,AC022302,AC034103,AC068711,AK054981,AK091491,AK293996,AL834407,BC036420,BC039494,BC040740 NP_001074003,BAB70836,BAC03675,BAG57359,CAD39069,AAH40740,Q8NB66,AAI56425 Hs.657273 DKFZp547H074 Munc13-3|protein unc-13 homolog C|unc-13-like 3 protein-coding 1604204 UNC13D unc-13 homolog D (C. elegans) This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq] 19131769,18759271,18710388,18492689,18453599,18432499,18311812,18240215,17993578,16825436,16778144,16630545,16278825,15489334,15466010,14702039,14699162,14622600,12477932,11214971,20015888,15548590,16248985,17237785,19120489,19704116 201294 NM_199242,NG_007266,AC087289,CH471099,AJ578444,AK024474,AK300316,AK301529,AW451853,BC024740,BC067084 NP_954712,EAW89322,EAW89323,EAW89324,CAE17516,BAB15764,BAG62068,BAG63031,AAH67084,Q70J99,ACE87104,ACE86429 Hs.41045 FHL3|HLH3|HPLH3|Munc13-4 protein unc-13 homolog D protein-coding 1603630 UNC45A unc-45 homolog A (C. elegans) UNC45A plays a role in cell proliferation and myoblast fusion, binds progesterone receptor (PGR; MIM 607311) and HSP90 (HSPCA; MIM 140571), and acts as a regulator of the progesterone receptor chaperoning pathway (Price et al., 2002 [PubMed 12356907]; Chadli et al., 2006 [PubMed 16478993]).[supplied by OMIM] 20562859,17353931,18285346,17872978,17081983,16478993,15489334,15231748,14702039,12477932,12356907,19615732 55898 NM_001039675,NM_018671,AC068831,CH471101,AB014729,AB014736,AK000905,AK125523,AK125721,AK291622,AK293538,AK296964,AK302979,AL357532,AL357537,AL357538,BC006214,BC010995,BC037992,BC045635,CR615762,CR624111 NP_001034764,NP_061141,EAX02127,EAX02128,EAX02129,BAB20266,BAB20273,BAA91418,BAG54239,BAF84311,BAG57020,BAG59508,BAG64122,CAB93428,CAB93429,AAH06214,AAH10995,AAH37992,AAH45635,Q9H3U1,Q9NWG3,ABM83879,ABM87199 Hs.389461 FLJ10043|GC-UNC45|GCUNC-45|GCUNC45|IRO039700|SMAP-1|SMAP1 UNC-45A|general cell UNC45|protein unc-45 homolog A|smooth muscle cell associated protein-1|smooth muscle cell-associated protein 1 protein-coding 1313830 UNC45B unc-45 homolog B (C. elegans) UNC45B plays a role in myoblast fusion and sarcomere organization (Price et al., 2002 [PubMed 12356907]).[supplied by OMIM] 1580863 15489334,14702039,12477932,12356907,20379614 146862 NM_173167,NM_001033576,AC022916,CH471147,AF539794,AK095929,AL832355,AL833281,BC101062,BC101063,BX647642 NP_775259,NP_001028748,EAW80162,EAW80163,EAW80164,AAO13384,AAI01063,AAI01064,Q8IWX7 Hs.379636 CMYA4|FLJ38610|MGC119540|MGC119541|SMUNC45|UNC45 OTTHUMP00000163855|UNC-45B|cardiomyopathy associated 4|protein unc-45 homolog B|striated muscle UNC45 protein-coding 1343022 UNC50 unc-50 homolog (C. elegans) 634436 17004066,12477932,11230166,11042152,10980252,9373149,8125298,17207965 634436 25972 BC039078,BC091481,CR533464,AC010134,AC064860,CH471127,AF077038,AK222599,AL080115,AY017215,AY251534,BC017019,NM_014044,BC025992 AAH25992,AAH39078,AAH91481,CAG38495,Q53HI1,NP_054763,AAX93232,AAY14975,EAX01900,EAX01901,EAX01902,AAD27771,BAD96319,CAB45714,AAK08987,AAP20057,AAH17019,ADQ31836 Hs.13370 DKFZp564G0222|GMH1|HSD23|UNCL|URP OTTHUMP00000203134|OTTHUMP00000203135|PDLs22|geal-6 membrane-associated high-copy suppressor 1|hGMH1|periodontal ligament-specific protein 22|protein GMH1 homolog|protein unc-50 homolog|unc-50 related|uncoordinated-like protein protein-coding 1344019 UNC5A unc-5 homolog A (C. elegans) UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM] 15573119,15489334,14702039,12655055,12598906,12477932,11853319,8889548,12598531,12810718,15729359,19913121,20628086,20372800,17174565 90249 NM_133369,AC027318,AC091897,AC091902,CH471195,AB075856,AK131380,BC009333,BC033727,BC122556,BC157824,BI818609,BM712478,CR598115 NP_588610,EAW85050,EAW85051,EAW85052,BAB85562,BAD18531,AAH09333,AAH33727,AAI22557,AAI57825,Q05BS3,Q08E75,Q6ZN44,AAI67811 Hs.33191 FLJ16449|KIAA1976|UNC5H1 netrin receptor UNC5A|netrin receptor Unc5h1|protein unc-5 homolog 1|protein unc-5 homolog A|unc-5 homolog 1|unc5 (C.elegans homolog) a protein-coding 736493 UNC5B unc-5 homolog B (C. elegans) UNC5B belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM] 1580863 18469807,15729359,15342556,14702039,12975309,12655055,12598906,12477932,12359238,12107411,21172653,19273616,18719102,16385451,18839057,19822088,19826074,20379614,20092749 219699 NM_170744,AL359384,AL359832,CH471083,AB096256,AK022859,AK094595,AK128132,AY126437,AY358351,BP344031,BQ638420,DR003631 NP_734465,CAI16089,CAI16090,CAI16737,CAI16738,EAW54420,EAW54421,BAC57998,BAB14276,BAC04382,BAG54634,AAM95701,AAQ88717,Q8IZJ1,AAI66694 Hs.522997 UNC5H2|p53RDL1 netrin receptor UNC5B|p53-regulated receptor for death and life protein 1|protein unc-5 homolog 2|protein unc-5 homolog B|transmembrane receptor Unc5H2|unc-5 homolog 2 protein-coding 1347353 UNC5C unc-5 homolog C (C. elegans) This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq] 634450,1580863 14702039,9782087,19475631,19331160,19242752,18628988,18054557,17967459,16371650,15729359,15574733,15489334,12810718,12655055,12477932,11213262,11103947,20932310,19822088,19850283,20032384,20201926,20379614 634450 8633 AK022487,BX538341,CR610949,NM_003728,AC097656,AC098584,AC105395,AC106881,CH471057,AF055634,AK290500,AK308421,BC034747,BC041156 NP_003719,AAY41022,EAX06061,EAX06062,AAC67491,BAF83189,AAH41156,O95185,Q4W5H4 Hs.388565 UNC5H3 OTTHUMP00000219358|homolog of C. elegans transmembrane receptor Unc5|netrin receptor UNC5C|protein unc-5 homolog 3|protein unc-5 homolog C|unc-5 homolog 3|unc5 (C.elegans homolog) c protein-coding 1342658 UNC5CL unc-5 homolog C (C. elegans)-like 14769797,12477932 222643 CR616692,NM_173561,AL031778,CH471081,AY510109,BC035284,AI791395,BM312066 NP_775832,CAI20283,EAX04007,AAS80165,AAH35284,Q8IV45 Hs.158357 MGC34763|ZUD OTTHUMP00000016362|UNC5C-like protein|ZU5 and death domain containing|ZU5 and death domain-containing protein|protein unc-5 homolog C-like protein-coding 1319479 UNC5D unc-5 homolog D (C. elegans) 18402767,16368877,15302935,15142956,12975309,20379614 137970 NM_080872,AC012215,AC013302,AC090740,AC099685,AC104049,AC105230,CH471080,AB055056,AK122610,AK122615,AY358147,BY798317 NP_543148,EAW63381,EAW63382,EAW63383,BAB83663,BAG53621,AAQ88514,Q6UXZ4,AAI56114,AAI56909 Hs.238889 FLJ16019|KIAA1777|PRO34692|Unc5h4 OTTHUMP00000211542|OTTHUMP00000211543|OTTHUMP00000211544|netrin receptor UNC5D|netrin receptor Unc5h4|protein unc-5 homolog 4|protein unc-5 homolog D|unc-5 homolog 4 protein-coding 1350674 UNC80 unc-80 homolog (C. elegans) 19535918,14702039,19092807,18336069,17825559,16344560,12477932,12168954,11347906,10737800,9847074 285175 NM_032504,NM_182587,AC006385,AC006464,AC007038,CH471063,AB058746,AK027583,AK090815,AK299022,AK302830,BC136690,BC136693,CR748860,CV392610,DA147023,DB301313,DN990286,DW009748,DW010027,DY654424 NP_115893,NP_872393,EAW70465,EAW70466,EAW70467,EAW70468,EAW70469,EAW70470,BAB47472,BAB55211,BAC03521,BAG61101,BAG64025,AAI36691,AAI36694,Q8N2C7 Hs.396201 C2orf21|FLJ14677|FLJ33496|FLJ53903|KIAA1843|UNC-80 OTTHUMP00000206605|WUGSC:H_NH0436C12.1|protein unc-80 homolog protein-coding 1343381 UNC84A unc-84 homolog A (C. elegans) This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Several alternatively spliced transcript variants of this gene have been described; however, the full-length nature of some of these variants has not been determined. [provided by RefSeq] 1580863 12958361,12477932,12036294,11593002,10375507,9872452,8889548,20108321,19240061,17724119,17631499,17132086,17081983,16445915,16344560,16079285,15489334,14702039,18029348,18396275,19851296,19933576,20198315,20379614 23353 BC151827,BC152418,BM689998,BX538211,BX640866,BX648893,BX649069,CR591842,DA112466,DA738650,NM_001130965,NM_025154,AC099731,CH236965,CH471144,AB018353,AF202724,AK022469,AK022816,AK025737,AK074320,AK093851,AK128170,AK302896,AK304150,AK309120,AY776160,BC013613,BC113916,BC142707,DA666453,NM_001171944,NM_001171945,NM_001171946 AAI52419,CAD98070,O94901,Q5S4N2,AAI42708,NP_001124437,NP_079430,EAL23707,EAW87174,EAW87175,EAW87176,EAW87177,EAW87178,BAA34530,AAF15888,BAB14046,BAG51119,BAG64069,BAG65040,AAV52793,AAH13613,NP_001165415,NP_001165416,NP_001165417 Hs.438072 FLJ12407|KIAA0810|MGC176649|SUN1|UNC84A OTTHUMP00000199968|OTTHUMP00000199971|OTTHUMP00000199973|OTTHUMP00000199974|SUN domain-containing protein 1|Sad1 unc-84 domain protein 1|protein unc-84 homolog A|sad1/unc-84 protein-like 1|unc-84 homolog A protein-coding 1322098 UNC84B unc-84 homolog B (C. elegans) 1580863 18029348,18396275,19615732,19933576,20551905,10818110,10375507,17353931,16380439,10508607,17827388,17132086,17081983,16381901,15489336,15489334,15461802,14615979,12958361,12477932,12393179,12239280,11230166,11076863,10591208,9734811,9110174,8619474,19019082,15146197,20108321 25777 AL021707,CH471095,AB014568,AF038178,AF202723,AK295787,AK304188,AY682988,NM_015374,BC030684,BC069253,BC094797,BC111549,BC111717,BI908715,BX537962,CR456474,BE675617,CB988569,CD365855,CN299688,DC400744,NM_001199579,NM_001199580 CAQ07913,NP_056189,CAI21604,CAQ07911,CAQ07912,CAQ07914,CAQ07915,CAQ07916,CAQ07917,CAQ07918,CAQ07919,CAQ07920,EAW60265,EAW60266,EAW60267,EAW60268,EAW60269,EAW60270,EAW60271,BAA31643,AAF15887,BAG58608,BAG65068,AAT90500,AAH30684,AAH69253,AAH94797,AAI11550,AAI11718,CAD97926,CAG30360,Q2T9F7,Q504T5,Q6NT72,Q9UH99,CAL37638,CAK54455,CAK54754,NP_001186508,NP_001186509 Hs.517622 KIAA0668|MGC133055|MGC133056|SUN2|UNC84B OTTHUMP00000198989|OTTHUMP00000198990|OTTHUMP00000199094|SUN domain-containing protein 2|Sad1 unc-84 domain protein 2|nuclear envelope protein|protein unc-84 homolog B|rab5-interacting protein|rab5IP|sad1/unc-84 protein-like 2|unc-84 homolog B protein-coding 1343732 UNC93A unc-93 homolog A (C. elegans) 1580863 12381271,14702039,14574404,12477932 54346 NM_018974,CH471051,AJ422141,AJ508812,AK091987,BC098248,BC099718,BC105635,NM_001143947,AL021331 NP_061847,EAW47499,EAW47500,EAW47501,CAD19521,CAD48541,BAG52457,AAH98248,AAH99718,AAI05636,Q4QQJ4,Q86WB7,NP_001137419,CAI42706 Hs.567508 MGC119395|MGC119397|Unc-93A|dJ366N23.1|dJ366N23.2 dJ366N23.1 (putative C. elegans UNC-93 (protein 1, C46F11.1) LIKE)|dJ366N23.2 (putative C. elegans UNC-93 (protein 1, C46F11.1) C-terminal LIKE)|hmUNC-93A|protein unc-93 homolog A|unc93 homolog A protein-coding 1323726 UNC93B1 unc-93 homolog B1 (C. elegans) This gene encodes a protein with similarity to the C. elegans unc93 protein. The Unc93 protein is involved in the regulation or coordination of muscle contraction in the worm. [provided by RefSeq] 1580863 19006693,18241724,18082565,16973841,16554811,16111919,15489334,12477932,11867227,9847074,9110174,8889548,8619474,19120473,19120481 81622 AC004923,CH471076,AJ271326,AJ422142,AY007125,BC025669,BC033623,BC092472,BC101568,BC105104,BM980538,BU622714,CR615912,NM_030930,NG_007581 AAD15416,EAW74676,EAW74677,CAC19791,CAD19522,AAH25669,AAH33623,AAH92472,AAI01569,AAI05105,Q05BS6,Q58F16,Q9H1C4,NP_112192 Hs.726559 MGC126617|UNC93|UNC93B|Unc-93B1 hUNC93B1|protein unc-93 homolog B1|unc-93 related protein|unc93 homolog B|unc93 homolog B1 protein-coding 2293163 UNC93B2 unc-93 homolog B2 pseudogene (C. elegans) 12853948,11867227 641922 AC079804,NG_013106 A6NGZ7 UNC93B2P pseudo 2290519 UNC93B3 unc-93 homolog B3 pseudogene (C. elegans) 11867227 285296 NG_009695,AC108724 UNC93B3P pseudo 2292102 UNC93B4 unc-93 homolog B4 pseudogene (C. elegans) 11867227,9847074 643384 NG_009674,AC011744 pseudo 4143688 UNC93B5 unc-93 homolog B5 (C. elegans) 729196 AADB02014182,ABBA01024026,XM_001721374,XM_001722337 XP_001721426,XP_001722389 unc-93 homolog B5 (C. elegans)|unc-93 homolog B5 pseudogene protein-coding 2292185 UNC93B6 unc-93 homolog B6 (C. elegans) 255620 NG_009705,AP000867 pseudo 1626690 UNCX UNC homeobox 12853948,12690205,11181995 340260 NM_001080461,AC073094,CH236953,CH471144 NP_001073930,EAL23940,EAW87199,A6NJT0 Hs.232272 UNCX4.1 Unc4.1 homeobox|homeobox protein Uncx4.1|homeobox protein unc-4 homolog protein-coding 1316252 UNG uracil-DNA glycosylase This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. [provided by RefSeq] 1599705,1580863 20574454,7671300,9016624,10805771,19403629,19237606,18973764,18760480,18270339,18196298,18079698,18004790,17704764,17537817,17360488,17272283,17101234,17081983,17029639,16951200,16928741,16216562,15970468,15967827,15489334,15339922,15327777,15302935,15107486,15084312,14580190,12958596,12810074,12670953,12667798,12525642,12477932,12458223,12369930,12171929,12161446,12136137,11081631,10888643,10393198,9882380,9753728,9724657,9525900,9490791,16005850,9371639,9151883,9045683,8900285,8884263,8670846,8551605,8332455,7926048,7697717,20371602,10583946,11937636,16344560,16697536,19023113,19625402,20466601,20496165,7556436,2555154,2001396,1923798,17090531,15096517,16103149,15142377,16120388,16075307,15875659,15969084,19064571,19671688,19859091,20176960,20226869,20800603,20877624,21077165,20843780 1599705 7374 NM_080911,NM_003362,NG_007284,A64377,AC007637,AF526277,CH471054,X79093,X89398,AK291341,AK299416,AK313552,BC015205,BC050634,BG326541,CR541673,CR596393,CR613290,CR613619,CR619335,CR749342,X15653,Y09008,BM928006,BQ950839,BU622689,DB045515,HH794618,HQ206226,HQ206227,HQ206228,HQ206229,HQ206230,HQ206231,HQ206232,HQ206233,HQ206234,HQ206235,HQ206236,HQ206237,HQ206238,HQ206239,HQ206240,HQ206241,HQ206242,HQ206243,HQ206244,HQ206245,HQ206246,HQ206247,HQ206248,HQ206249,HQ206250,HQ206251,HQ206252,HQ206253,HQ206254,HQ206255,HQ206256,HQ206257,HQ206258,HQ206259,HQ206260,HQ206261,HQ206262,HQ206263,HQ206264,HQ206265 NP_550433,NP_003353,CAA03797,AAM77695,EAW97846,EAW97847,EAW97848,EAW97849,EAW97850,CAA61578,CAA61579,BAF84030,BAG61398,BAG36328,AAH15205,AAH50634,CAG46474,CAH18195,CAA33679,CAA70211,P13051,Q68DM5,Q6FHS8,ACT64522,ACT64523,ADP92134,ADP92135,ADP92136,ADP92137,ADP92138,ADP92139,ADP92140,ADP92141,ADP92142,ADP92143,ADP92144,ADP92145,ADP92146,ADP92147,ADP92148,ADP92149,ADP92150,ADP92151,ADP92152,ADP92153,ADP92154,ADP92155,ADP92156,ADP92157,ADP92158,ADP92204,ADP92205,ADP92159,ADP92160,ADP92161,ADP92162,ADP92206,ADP92207,ADP92163,ADP92164,ADP92165,ADP92166,ADP92167,ADP92168,ADP92169,ADP92170,ADP92171,ADP92172,ADP92173,ADP92174,ADP92175,ADP92176,ADP92177,ADP92178,ADP92179,ADP92180,ADP92181,ADP92182,ADP92183,ADP92184,ADP92185,ADP92186,ADP92187,ADP92188,ADP92189,ADP92190,ADP92191,ADP92192,ADP92193,ADP92194,ADP92195,ADP92196,ADP92197,ADP92198,ADP92199,ADP92200,ADP92201,ADP92202,ADP92203,ADP92208,ADP92209,ADP92210,ADP92211,ADP92212,ADP92213,CBX87166 Hs.191334 DGU|DKFZp781L1143|HIGM4|UDG|UNG1|UNG15|UNG2 uracil-DNA glycosylase|uracil-DNA glycosylase 1, uracil-DNA glycosylase 2|uracil-DNA glycosylase 2 protein-coding 1349423 UNGP1 uracil-DNA glycosylase pseudogene 1 8694824 57004 AC137527,NG_001287,X92985 pseudo 1349949 UNGP2 uracil-DNA glycosylase pseudogene 2 8694824 57005 NG_001288,AL110292,X92986 pseudo 1351551 UNGP3 uracil-DNA glycosylase pseudogene 3 319122 NG_002503,AC010582,AL136040 pseudo 1319446 UNK unkempt homolog (Drosophila) 737633,1580863 16094384,15489334,15302935,12477932,11214970 737633 85451 NM_001080419,AC087289,AB051540,BC033751,BC038802,BC039606,BC046175,BC053362,CR591163,CH471099 NP_001073888,BAB21844,AAH53362,Q9C0B0,EAW89320,EAW89321 Hs.584768 KIAA1753|ZC3H5|ZC3HDC5 RING finger protein unkempt homolog|zinc finger CCCH domain-containing protein 5|zinc finger CCCH type domain containing 5|zinc finger CCCH-type containing 5|zinc finger CCCH-type domain containing 5|zinc finger ccch type domain containing 5 protein-coding 1604323 UNKL unkempt homolog (Drosophila)-like 20148946,16344560,16341674,15761153,15616553,15489334,14702039,12477932,11181995,11157797,8889548,1339381 64718 NM_023076,NM_001037125,AE006467,AL031709,AL031721,AL032819,CH471112,AK022685,AK024842,AK027013,AK124977,AM944365,BC000150,BC011924,BM763288,BQ776895,CF136587,DA558634,DA739764,BI751989,BU633778,CB988960,NM_001193388,NM_001193389 NP_075564,NP_001032202,AAK61278,AAK61279,CAM26360,CAM26361,CAQ08606,CAM26438,CAM26439,CAM26440,CAM26441,CAQ10206,EAW85659,EAW85660,EAW85661,EAW85662,EAW85663,EAW85664,BAB14178,BAB15626,AAH00150,AAH11924,Q9H9P5,CAQ16184,NP_001180317,NP_001180318 Hs.643536 C16orf28|FLJ12623|FLJ23360|KIAA0734|MGC5179|ZC3H5L|ZC3HDC5L OTTHUMP00000158652|OTTHUMP00000158653|OTTHUMP00000219075|RING finger protein unkempt-like|putative E3 ubiquitin-protein ligase UNKL|unkempt-like protein-coding 4108091 UNQ5830 AILT5830 12975309 400943 AC010969,AY358123,AY358741,XR_041686,XR_041687,XR_041688 AAQ88490,AAQ89101,Q6UY13 Hs.526504 miscrna 1603165 UNQ9391 tryptophan/serine protease 12975309,12477932,18844450 203074 HC007376,NM_198464,AC104964,CH471157,AY358867,BC033497,BC064412,NG_027783,NM_001197020 CBH19493,NP_940866,EAW65590,AAQ89226,AAH64412,Q6P2N5,Q6UWB4,NP_001183949 Hs.591394 T-SP1|UNQ9391 probable serine protease UNQ9391/PRO34284|serine protease 55|testis serine protease 1|tryptophan/serine protease protein-coding 1343488 UOX urate oxidase (pseudogene) Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated by mutation and is nonfunctional in humans and some other primates. [provided by RefSeq] 20210993,18085818,11961098,11700027,2403354,1556746,1395718 391051 NR_003927,AB074093,AB074326,AL359273,S94095,AI208826 Hs.647646 UOXP|URICASE pseudo 734439 UPB1 ureidopropionase, beta This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq] 1624989,1300048,1580863 19913121,20628086,15385443,10542323,18216719,18075467,17065070,15461802,14702039,12477932,11508704,3931905 1624989 51733 NM_016327,AF169559,AP000355,CH471095,AB013885,AF163312,AK024277,AK314727,BC033388,BC131703,BC139843,BX537493,CR456375,CR627429,NG_012858 NP_057411,AAF06739,EAW59662,EAW59663,EAW59664,BAA88634,AAF06735,BAG51283,BAG37269,AAI31704,AAI39844,CAI46015,CAG30261,CAH10516,Q5HYN3,Q6AHZ8,Q9UBR1,AAI39841,CAK54511,CAK54810 Hs.474388 BUP1 BUP-1|beta-alanine synthase|beta-ureidopropionase|n-carbamoyl-beta-alanine amidohydrolase protein-coding 1313946 UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq] 1580863 12881429,17220478,17468741,18369367,19704008,12554878,10999600,16488880,9064659,9620853,11544179,19150429,8855285,18774934,18427545,18423202,18369187,18362360,18066079,17803942,17456004,17159905,16931876,16861888,16452507,16186820,16086026,15680326,15489334,15231747,15106121,15057824,14636577,14527413,12723973,12477932,12417715,12228722,12000843,11546874,11331269,11163187,11113196,11073994,10454541,9039502,6200476,15721257,15175154,20946641,21145460,20691628,19556969,21029861 5976 BQ950083,CB960545,CR597098,CR614589,D86988,U59323,U65533,AC003972,AC004517,CH471106,AF074016,AK125797,AK128727,BC034291,BC039817,NM_002911 BAA19664,AAC51140,AAC50771,O60385,Q6ZUC8,Q92900,NP_002902,AAB94785,AAC09016,EAW84738,EAW84739,EAW84740,EAW84741,EAW84742,AAC26788,BAC86297,BAG54717,AAH39817 Hs.515266 FLJ43809|FLJ46894|HUPF1|KIAA0221|NORF1|RENT1|pNORF1 ATP-dependent helicase RENT1|UP Frameshift 1|delta helicase|nonsense mRNA reducing factor 1|regulator of nonsense transcripts 1|up-frameshift mutation 1 homolog|up-frameshift suppressor 1 homolog|yeast Upf1p homolog protein-coding 1319373 UPF2 UPF2 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq] 12881429,16385451,17468741,18369367,15231747,16488880,14636577,18987618,18066079,17803942,17456004,16449641,16209946,16186820,15489334,15361857,15004547,14702039,14574404,14527413,12723973,12718880,12554878,12477932,12417715,12093754,11546874,11544179,11163187,11113196,10718198,9933612,15680326,11073994,19556969 26019 BC114964,BC115737,NM_080599,AC073160,AL138898,AL645617,CH471072,AB037829,AF301013,AF318574,AK000764,AK074375,AK096191,AK295209,AK310925,AL080198,AW444636,AY013249,BC090919,NM_015542 AAI14965,AAI15738,Q5BKV2,Q8TE88,Q9HAU5,NP_056357,NP_542166,CAH73458,CAH73459,CAI16755,CAI16756,EAW86328,EAW86329,EAW86330,EAW86331,EAW86332,EAW86333,BAA92646,AAG33225,AAG60689,BAA91369,BAB85064,BAC04721,BAG58205,CAB45771,AAG48509,AAH90919 Hs.370689,Hs.610110 DKFZp434D222|HUPF2|KIAA1408|MGC138834|MGC138835|RENT2|smg-3 OTTHUMP00000019091|nonsense mRNA reducing factor 2|regulator of nonsense transcripts 2|up-frameshift suppressor 2 homolog|yeast Upf2p homolog protein-coding 1318748 UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11163187,15231747,17803942,17704778,16601204,15489334,15057823,15004547,14702039,14636577,12554878,12477932,12417715,11546874,11546873,11544179,11113196,12723973,14527413,16169070,19503078,18029348 65110 NM_023011,NM_080687,AL160396,CH471085,AF318575,AK001069,AK097027,AK302003,AY013250,BC008694,BC023569,BC047735,CR602718 NP_075387,NP_542418,CAI15816,EAX09247,EAX09248,EAX09249,EAX09250,EAX09251,EAX09252,AAG60690,BAG53409,BAG63406,AAG48510,AAH08694,AAH23569,Q9H1J1 Hs.533855 HUPF3A|RENT3A|UPF3 hUpf3|nonsense mRNA reducing factor 3A|regulator of nonsense transcripts 3A|up-frameshift suppressor 3 homolog A protein-coding 3519867 UPF3AP1 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 1 11997339 147226 AC022596,AC098850,NG_001548 pseudo 3542881 UPF3AP2 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2 11997339 147150 AC008088,NG_001546 pseudo 3497314 UPF3AP3 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 3 100422343 AL360084,NG_021629 pseudo 1346078 UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15680326,11163187,15231747,12226669,19503078,18066079,17704778,17194930,16601204,16209946,15635413,15004547,14702039,14527413,12723973,12718880,12554878,12477932,12417715,12093754,11546874,11546873,11113196,9933612,8012384,16169070,20479275,18029348,18369367,19615732,19884259,15146197,16344560,19238151 65109 NM_023010,NM_080632,NG_009241,AC002477,CH471161,Z55204,Z59665,AF318576,AK093728,AY013251,BC008494,BC121017,BC121018,BI549935,CR591923,BF223724,CN412717,DA949746,EG328250 NP_075386,NP_542199,EAW89842,EAW89843,EAW89844,EAW89845,EAW89846,AAG60691,BAG52755,AAG48511,AAI21018,AAI21019,Q0VAK7,Q9BZI7 Hs.103832 HUPF3B|MRXS14|RENT3B|UPF3X hUpf3p-X|nonsense mRNA reducing factor 3B|regulator of nonsense transcripts 3B|up-frameshift suppressor 3 homolog B|up-frameshift suppressor 3 homolog on chromosome X protein-coding 1320413 UPK1A uroplakin 1A The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. [provided by RefSeq] 1580863 10514386,15088894,15913809,15489334,15200408,15057824,12477932,12475947,12036448,11739647,10404304,9846985,8530366,8138569,20978196,19577575 11045 NM_007000,AC002115,AC002314,AF085807,BC107097,BC107098 NP_008931,AAB57631,AAB62736,AAC34887,AAI07098,AAI07099,O00322 Hs.159309 MGC129751|MGC129752|MGC14388|TSPAN21|UP1A|UPIA|UPKA tetraspanin-21|tspan-21|uroplakin Ia|uroplakin-1a protein-coding 1317213 UPK1B uroplakin 1B The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq] 1580863 9935153,10514386,9818021,18355812,16354592,15489334,15140401,12477932,12475947,12031497,11739647,9846985,9373149,9073521,8530366,8125298,12446744,17207965 7348 NM_006952,AC083800,AF067147,AF324865,CH471052,AB002155,AB015234,AF042331,AF082888,AK225868,AK303924,AK313787,AL709739,BC012851,BC063568,CR457084,CR598921,CR624397 NP_008883,AAC17446,EAW79577,BAA88878,BAA33724,AAC77794,AAD09401,BAG64852,BAG36524,AAH63568,CAG33365,O75841,Q6IAS0,ADQ32551 Hs.271580 TSPAN20|UPIB|UPK1 OTTHUMP00000215019|OTTHUMP00000215020|OTTHUMP00000215021|OTTHUMP00000215022|UP1b|tetraspan|tetraspanin-20|tspan-20|uroplakin Ib|uroplakin-1b protein-coding 1353269 UPK2 uroplakin 2 The asymmetric unit membrane (AUM) forms the apical plaques of mammalian urothelium and is believed to strengthen the urothelial apical surface and prevent the cells from rupturing during bladder distention. The major conserved integral membrane proteins of the AUM are UPK1A (MIM 611557), UPK1B (MIM 602380), UPK2, and UPK3 (UPK3A; MIM 611559).[supplied by OMIM] 1580863 10514386,9515818,8175808,17012268,16116969,15489334,12792753,12477932,12475947,10458411,10404304,9846985,7507484,8530366,12097284,18440837 7379 NM_006760,AB078607,AP004609,EF445028,AB009454,AF000562,AY455312,BC113900,Y13645,CD556028 NP_006751,BAB84089,ACA06070,BAA23884,AAB58416,AAR19396,AAI13901,CAA73996,O00526,Q9UEE8 Hs.379613 MGC138598|UP2|UPII uroplakin II|uroplakin-2 protein-coding 1321651 UPK3A uroplakin 3A Uroplakins (UPK) are integral membrane proteins that form 2-dimensional crystalline arrays termed urothelial plaques that cover more than 90% of the apical urothelial surface. The asymmetric unit membrane (AUM) forms the apical plaques of urothelium and is believed to strengthen the urothelial apical surface and prevent the cells from rupturing during bladder distention. The 4 major conserved integral membrane proteins of the AUM are UPK1A (MIM 611557), UPK1B (MIM 602380), UPK2 (MIM 611558), and UPK3A.[supplied by OMIM] 1580863 10514386,19412341,19007907,18528285,18313120,17880289,17698128,16731295,15489334,15461802,14713856,14654529,12477932,12475947,12474225,9846985,9818021,8889548,19959718 7380 NM_006953,AL008718,CH471138,AB010116,AB010637,AF085808,BC069544,BC108900,BM727658,CR456608,BM681088,NG_016203,NM_001167574 NP_008884,CAI17948,CAQ08673,EAW73377,BAA25678,BAA31460,AAC34888,AAH69544,AAI08901,CAG30494,O75631,CAK54635,CAK54934,NP_001161046 Hs.632787 MGC119178|UP3A|UPIII|UPIIIA|UPK3 uroplakin III|uroplakin-3a protein-coding 1320049 UPK3B uroplakin 3B UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM] 18029348,16814572,15489334,14702039,12853948,12477932,12446744,18776082,17207965 80761 NM_030570,NM_182684,AC004980,AC007078,AK056760,AK290096,AY233462,BC004304,BM921749,BQ689127,BU150542 NP_085047,NP_872625,AAS07526,BAG51807,BAF82785,AAO89507,AAH04304,Q9BT76,ADQ32327 Hs.488861 FLJ32198|MGC10902|P35|UPIIIb OTTHUMP00000195163|UP3b|uroplakin IIIb|uroplakin-3b protein-coding 2801955 UPK3BL uroplakin 3B-like 100134938 AC105052,EU341824,NM_001114403 ABY56115,B0FP48,NP_001107875 Hs.610255 UPLP uroplakin-3-like protein|uroplakin-3b-like protein|uroplakin-like protein protein-coding 1313669 UPP1 uridine phosphorylase 1 The 2 known types of pyrimidine nucleoside phosphorylases, uridine phosphorylase (UP; EC 2.4.2.3) and thymidine phosphorylase (TP; EC 2.4.2.4), in the presence of orthophosphate, catalyze the reversible phosphorolysis of uridine and thymidine or deoxyuridine, respectively, to free bases and ribose-1-phosphate or deoxyribose-1-phosphate. Pyrimidine nucleoside phosphorylases can add ribose or deoxyribose to pyrimidine bases to form nucleosides that can be incorporated into RNA or DNA (Watanabe and Uchida, 1995 [PubMed 7488099]).[supplied by OMIM] 7488099,19291308,16798057,15489334,14702039,12477932,12115385,12084455,11807789,11278417,752472,19714313 7378 NM_181597,NM_003364,AC122132,CH236955,CH236958,CH471128,AK096167,AK297863,BC001405,BC007348,BC047030,BC053592,BE622095,BM544854,BT006699,BU528636,CR625754,X90858 NP_853628,NP_003355,EAW60993,EAW60994,EAW60995,EAW60996,BAG60192,AAH01405,AAH07348,AAH47030,AAH53592,AAP35345,CAA62369,CAA62370,Q16831,Q86Y75 Hs.488240 UDRPASE|UP|UPASE|UPP OTTHUMP00000159566|UPase 1|urdPase 1|uridine phosphorylase 1 protein-coding 1317821 UPP2 uridine phosphorylase 2 1580863 11278417,12849978,19401682,15815621,15489334,14702039,12477932,20932310,17207965 151531 NM_173355,NM_001135098,AC005539,CH471058,AA995921,AK122743,AW771260,AY225131,BC033529 NP_775491,NP_001128570,AAD12227,EAX11437,BAG53699,AAO61681,AAH33529,O95045,ADQ32354 Hs.128427 UDRPASE2|UP2|UPASE2 UPase 2|liver-specific uridine phosphorylase|urdPase 2|uridine phosphorylase 2|uridine phosphorylase-2 protein-coding 1605870 UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 18626508,17384901,16189514,15772651,15489334,14702039,12477932,16344560 139596 NM_145052,AL137013,AL590234,CH471104,AK056354,AK293024,AK309951,AY643714,BC015116,CR593454,CR604982,CR749336,AA974609,CK818555,DA512889,NG_015972,NR_030774 NP_659489,CAI40088,CAI40089,CAI39681,CAI39682,EAW98630,EAW98631,BAF85713,AAT64916,AAH15116,CAH18190,Q96BW1 Hs.91612 DKFZp781E1243|FUR1|MGC23937|RP11-311P8.3|UPP OTTHUMP00000023581|UMP pyrophosphorylase|UPRTase|uracil phosphoribosyltransferase homolog protein-coding 1345532 UQCC ubiquinol-cytochrome c reductase complex chaperone 17355966,18391952,19343178,19863319,20072657,20189936,19578754,20877624,19266077,18391951,18391950,18193045,16381901,15489336,15489334,14702039,12878157,12477932,11780052,11118897,11076863,9373149,8125298,20546612 55245 AL121753,NG_021421,NM_001184977,NM_018244,NM_199487,AL121752,AL389874,CH471077,AF173893,AK001712,AK022650,AK022742,AK093804,AK128252,AK225557,AK293149,AK293516,AK295379,AK300130,AK302133,AK308819,AL122112,AU280736,AY050659,AY050660,BC008871,BC105791,BC119013,BC122862,BM919736,BX537568,CR619718,AK225281 CAX12720,NP_001171906,NP_060714,NP_955781,CAI21449,CAI21452,CAI21453,CAI21454,CAI15738,CAI15740,CAI15742,CAI15743,EAW76210,EAW76211,EAW76212,EAW76213,EAW76214,EAW76215,EAW76216,EAW76217,AAQ13640,BAA91854,BAB14156,BAB14217,BAH11462,BAH11526,BAH12050,BAH13218,BAH13634,AAL13118,AAL13119,AAI05792,AAI19014,AAI22863,CAD97785,Q3KRB6,Q7Z2S6,Q7Z3P9,Q9NVA1,CAL37762,CAL38728 Hs.726290 BFZB|C20orf44|CBP3|MGC104353|MGC141902 OTTHUMP00000030744|OTTHUMP00000030746|OTTHUMP00000030747|OTTHUMP00000030750|OTTHUMP00000061642|OTTHUMP00000194710|basic FGF-repressed Zic-binding protein|ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog protein-coding 1348323 UQCR ubiquinol-cytochrome c reductase, 6.4kDa subunit 737633,1580863 10453733,9161705,15489334,15057824,12477932,20877624 737633 10975 AA807820,DW465790,NM_006830,AC005321,AC005943,CH471139,AK312053,BC000462,BC003594,CR593271,CR601738,CR605036,CR605565,D55636 NP_006821,AAC27374,AAC72105,EAW69474,EAW69475,EAW69476,BAG34989,AAH00462,AAH03594,BAA21748,O14957,ABM83117,ABM86313 Hs.8372 0710008D09Rik|QCR10|UQCR complex III subunit 10|complex III subunit XI|cytochrome b-c1 complex subunit 10|ubiquinol cytochrome c reductase, 6.4kDa subunit|ubiquinol-cytochrome c reductase complex 6.4 kDa protein|ubiquinol-cytochrome c reductase, 6.4kDa subunit protein-coding 1323703 UQCRB ubiquinol-cytochrome c reductase binding protein This gene encodes a protein which is part of the ubiquinol-cytochrome c oxidoreductase complex which contains ten nuclear-encoded and one mitochondrial-encoded subunits. The encoded protein binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. Mutations in this gene are associated with mitochondrial complex III deficiency. A pseudogene has been described on the X chromosome. 1580863,1300048,1599707 3056408,16189514,15489334,12709789,12477932,8751380,2981208,2543413,2167087,2159470,19064571,20877624 1599707 7381 NG_008237,AP003465,CH471060,M26701,M26730,M37387,AK307085,AK311756,AV747179,BC005230,BC041005,CR542176,NM_006294,CR542196,M22348,M26700,X13585,AK295007,NM_001199975 NP_006285,EAW91749,AAA60237,AAA60235,AAA60361,BAG34699,AAH05230,CAG46973,CAG46993,AAA60238,AAA60236,CAA31926,P14927,BAH11948,NP_001186904 Hs.131255 FLJ92016|FLJ97033|QCR7|QP-C|QPC|UQBC|UQBP|UQCR6|UQPC complex III subunit 7|complex III subunit VII|cytochrome b-c1 complex subunit 7|ubiquinol-cytochrome c reductase complex 14 kDa protein|ubiquinol-cytochrome c reductase, complex III subunit VI|ubiquinone-binding protein protein-coding 1350764 UQCRBP1 ubiquinol-cytochrome c reductase binding protein pseudogene 1 2543413 7382 1354116 UQCRBP2 ubiquinol-cytochrome c reductase binding protein pseudogene 2 2543413,2543413 7383,100130719 AL596325,NG_027838 pseudo 4144423 UQCRBP3 ubiquinol-cytochrome c reductase binding protein pseudogene 3 100288785 AC016575 pseudo 1342599 UQCRC1 ubiquinol-cytochrome c reductase core protein I 1331810,1580863 17353931,8407948,19165527,19110265,16775426,15489334,15242332,12477932,12067236,10453733,8889549,8313870,8069229,7981668,7951059,6251869,1846623,11073949,18029348,15967462,20877624 1331810 7384 AC121252,CH471055,AA284910,AK129903,AK300694,AK302840,AK313090,BC009586,CR590742,CR592787,CR592960,CR594146,NM_003365,CR596628,CR596900,CR597511,CR597640,CR601503,CR601929,CR603058,CR604374,CR608620,CR609006,CR612327,CR613607,CR615622,CR615936,CR618343,CR619930,CR620730,CR622799,CR622944,CR623388,CR624194,CR624214,CR612544,CR624684,CR625097,D26485,L16842 EAW64898,BAG62377,BAG64031,BAG35915,AAH09586,NP_003356,BAA05495,AAA20046,P31930 Hs.119251 D3S3191|QCR1|UQCR1 complex III subunit 1|core protein I|cytochrome b-c1 complex subunit 1, mitochondrial|ubiquinol-cytochrome-c reductase complex core protein 1 protein-coding 1352193 UQCRC2 ubiquinol-cytochrome c reductase core protein II 1580863 20677014,17353931,8288258,18029348,15489334,14702039,12477932,12067236,2547763,2162168,11073949,19596235,20877624,18614564 7385 NM_003366,AC092119,CH471249,AK093106,AK094006,AK307535,BC000484,BC003136,CR590090,CR591635,CR592149,CR594957,CR595039,CR598053,CR603517,CR603847,CR604978,CR605702,CR606175,CR607389,CR609670,CR610739,CR611095,CR612237,CR616588,CR617468,CR617817,CR620233,CR622835,CR626107,CR626134,CR626219,CR626286,CR626658,J04973 NP_003357,EAW50590,EAW50591,EAW50592,BAG52796,AAH00484,AAH03136,AAA35710,P22695,ABM82316,ABM85491 Hs.528803 QCR2|UQCR2 complex III subunit 2|core protein II|cytochrome b-c1 complex subunit 2, mitochondrial|ubiquinol-cytochrome-c reductase complex core protein 2 protein-coding 1350936 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 1580863 2999105,17207965,20877624,15489334,15057824,15047214,12821338,12477932,9150947,8088805,7721092,2158323,19064571,20379614 7386 NM_006003,AC007786,L32917,L32977,AK000225,AK291134,BC000649,BC010035,BC067832,BF210184,BF979273,CR592326,CR594419,CR601299 ADQ32468,NP_005994,AAD38242,AAC41754,BAF83823,AAH00649,AAH10035,AAH67832,P47985,ABM82767 Hs.726119 RIP1|RIS1|RISP|UQCR5 Rieske iron-sulfur protein|complex III subunit 5|cytochrome b-c1 complex subunit 5|cytochrome b-c1 complex subunit Rieske, mitochondrial|ubiquinol-cytochrome c reductase iron-sulfur subunit protein-coding 4759378 UQCRFS1P2 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 11181995,12690205 647123 AC020983,CH236950,CH471070,NG_009734 EAL24044,EAW83891 pseudo 4772784 UQCRFS1P3 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 3 100130994 AL391054,NG_022295 pseudo 1351451 UQCRFSL1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide-like 1 8088805 100128525 NG_009458,Z82206,CR592425 P0C7P4 UQCRFSL1 pseudo 1314343 UQCRH ubiquinol-cytochrome c reductase hinge protein 1580863,1300048,2301375 2826252,17081983,16710414,15489334,12881716,12477932,7821789,7684318,20877624 2301375 7388 NM_006004,AL122001,CH471059,S61826,AK311967,BC001426,BC001934,BC015177,BC093060,BC107703,BT007070,CR601608,CR608037,CR614090,CR625946,D28439,M36647,Y00764 NP_005995,CAI21963,EAX06922,EAX06923,EAX06924,EAX06925,EAX06926,AAD13930,BAG34906,AAH01426,AAH01934,AAH15177,AAH93060,AAI07704,AAP35733,BAA05805,AAA36317,CAA68733,P07919,Q567R0 Hs.481571 MGC111572|QCR6|UQCR8 complex III subunit 6|complex III subunit VIII|cytochrome b-c1 complex subunit 6, mitochondrial|cytochrome c1 non-heme 11 kDa protein|mitochondrial hinge protein|ubiquinol-cytochrome c reductase complex 11 kDa protein|ubiquinol-cytochrome c reductase, complex III subunit VIII protein-coding 1344821 UQCRHP1 ubiquinol-cytochrome c reductase hinge protein pseudogene 1 404025 3207586 UQCRHP2 ubiquinol-cytochrome c reductase hinge protein pseudogene 2 729769 AC013449,NG_023004 pseudo 3476305 UQCRHP3 ubiquinol-cytochrome c reductase hinge protein pseudogene 3 100131995 AL355989,NG_022997 pseudo 3476343 UQCRHP4 ubiquinol-cytochrome c reductase hinge protein pseudogene 4 100128448 AC134025,NG_023010 pseudo 2946958 UQCRHP5 ubiquinol-cytochrome c reductase hinge protein pseudogene 5 19079260 100130756 AL662801,NG_023011 pseudo 1604364 UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq] 8592474,2164842,16169070,18439546,15544925,15489334,12477932,20877624 27089 AC004500,NM_014402,NG_012221,CH471062,AK297061,AK312148,AW327741,BC001390,BC064949,BC090048,BG678118,BU190580,BU953465,CR743513 NP_055217,EAW62308,BAH12487,AAH01390,AAH90048,O14949 Hs.146602 QCR8|QP-C|QPC|UQCR7 OTTHUMP00000066207|complex III subunit 8|complex III subunit VIII|cytochrome b-c1 complex subunit 8|low molecular mass ubiquinone-binding protein (9.5kD)|ubiquinol-cytochrome c reductase complex 9.5 kDa protein|ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C protein-coding 1353651 URB1 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) 17474147,12429849,17081983,15226434,14637006,12477932,12168954,10773462,9628581,18029348 9875 NM_014825,AP000266,AP000267,AP000268,AP000269,CH471079,AB011111,AF231919,AF432264,BC041033,BC062356 NP_055640,EAX09876,BAA25465,AAF72943,AAL28110,O60287,EAX09877 Hs.473611 C21orf108|KIAA0539|NPA1 nucleolar pre-ribosomal-associated protein 1|nucleolar preribosomal-associated protein 1 protein-coding 1346688 URB2 URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 737633,1580863 15635413,15265697,12477932,11790298,8590280,18029348 737633 9816 NM_014777,AL121990,AL354983,CH471098,CQ834432,AK291013,BC059381,BC114559,BC114963,D50923 NP_055592,CAI22017,CAH70040,CAH70043,EAW69904,EAW69905,CAH05431,BAF83702,AAH59381,AAI14560,AAI14964,BAA09482,Q14146,Q5VYD0,Q6PCC8 Hs.533628 KIAA0133|MGC138837|MGC138838|NET10|NPA2 nucleolar preribosomal-associated protein 1|unhealthy ribosome biogenesis protein 2 homolog protein-coding 1604342 URG4 up-regulated gene 4 URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM] 18972316,17217616,16730941,16344560,15302935,15203218,12477932,12082552,10819331,20714998,20491173 55665 AY078404,BC018426,BG722670,BX640797,BX648505,CD628752,CR749398,DA240479,DA316326,DR421788,NM_017920,NM_001077663,AC004985,CH236951,CH471073,AB040940,AK000661,AK026185,AK302459,AK314339,AL832134,AL833744,NM_001077664 AAL83710,AAH18426,CAE45880,CAH18244,ABM82000,ABM85183,NP_001071132,NP_060390,NP_001071131,EAW94174,EAW94175,EAW94176,BAA96031,BAA91312,BAH13717,BAG36982,CAH56246 Hs.709317 DKFZp666G166|DKFZp686O0457|URG4 OTTHUMP00000207526|OTTHUMP00000207528|OTTHUMP00000207530|OTTHUMP00000207531|OTTHUMP00000207532|up-regulated gene 4 protein-coding 1315307 URM1 ubiquitin related modifier 1 homolog (S. cerevisiae) 737633 15489334,19017811,18491921,16864801,16046629,15164053,14702039,12477932,16169070 737633 81605 NM_030914,NM_001135947,AL359091,CH471090,AI872337,AK001880,AK097029,AK300877,BC003581,BC011620,BI823604,CR592013,CR593450,CR594010,CR594474,CR599226,CR604331,CR609073,CR609902,CR625852,D83200 NP_112176,NP_001129419,CAI13491,CAI13492,CAI13493,EAW87782,EAW87783,EAW87784,EAW87785,EAW87786,BAG50985,BAG62520,AAH03581,Q9BTM9 Hs.495229 C9orf74|MGC2668|RP11-339B21.4 OTTHUMP00000022259|chromosome 9 open reading frame 74|ubiquitin related modifier 1 homolog|ubiquitin-related modifier 1 homolog protein-coding 1347314 UROC1 urocanase domain containing 1 15221005,15489334,14702039,12477932,16344560,19304569,6107814,7944380 131669 NM_144639,AC024558,CH471052,AB075869,AK055862,BC115405,BC115406,BX108463,DA638082,NG_016286,NM_001165974 NP_653240,EAW79360,BAD38651,BAB71032,AAI15406,AAI15407,Q68CJ7,Q96N76,NP_001159446 Hs.331148 FLJ31300|HMFN0320|MGC135007|MGC135008 imidazolonepropionate hydrolase|urocanate hydratase protein-coding 1351123 UROD uroporphyrinogen decarboxylase This gene encodes the fifth enzyme of the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria. [provided by RefSeq] 2301374,1599713,1580863,1578396,4144542,4144182,4145077,4144806,4145290,2303399 20479301,18004775,19419417,17627795,16710414,16390615,15491440,15489334,15186324,15046048,12477932,12071824,11719352,11295834,10477430,10338097,9806541,9792863,9564029,9373149,8896428,8644733,8176248,8125298,7706766,3775362,3658695,3460962,3015909,2920211,2243121,1905636,1634232,661926,11069625,20553007,21079081,18029348,20029029 2301374,1599713,4144542,4144182,4145077,4144806,4145290,2303399 7389 NR_036510,NG_007122,AF047383,AF103016,AF103017,AL359473,AY292986,CH471059,M60891,U30787,X89267,AF104421,AF104422,AF104423,AF104424,AF104425,AF104426,AF104427,AF104428,AF104429,AF104430,AF104431,AF104432,AF104433,AF104434,AF104435,AF104436,AF104437,AF104438,AF104439,AF104440,AK225053,NM_000374,AK291877,AK293702,AK295284,AK308996,AK309446,AK309724,AK310208,AK315878,BC001778,BM554255,BT006737,BX647308,CR456976,CR542057,CR595045,CR595230,CR599631,CR600525,CR612288,CR616226,CR619530,M14016,DB462002 NP_000365,AAC03563,AAD04167,AAD04168,CAI16439,CAI16440,CAI16441,AAP44118,EAX07007,EAX07008,AAB59456,AAC50482,CAA61540,AAD04571,AAD04572,AAD04573,AAD04574,AAD04575,AAD04576,AAD04577,AAD04578,AAD04579,AAD04580,AAD04581,AAD04582,AAD04583,AAD04584,AAD04585,AAD04586,AAD04587,AAD04588,AAD04589,AAD04590,BAF84566,BAG57136,BAG58268,BAF98769,AAH01778,AAP35383,CAG33257,CAG46854,AAA61258,P06132,Q53ZP6,Q5T450,Q71UD4,Q71UD5,ABM81614,ABM84796 Hs.78601 PCT|UPD OTTHUMP00000010503|UPD|URO-D|fifth enzyme of heme biosynthetic pathway|fifth enzyme of the heme biosynthetic pathway|uroporphyrinogen III decarboxylase|uroporphyrinogen decarboxylase protein-coding 1321278 UROS uroporphyrinogen III synthase The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq] 1599715,1580863,1578396,4144823,4144822,4144542 15164054,12477932,12060141,11689424,11254675,11121156,11112350,9834209,9803266,9188670,8829650,8655129,7860775,7616657,7607680,3792391,2331520,2037278,1737856,1733834,3174619,3805019,18004775,19099412,19021769,17298225,16713569,15489334,15304101,19965637 1599715,4144823,4144822,4144542 7390 NM_000375,NG_011557,AF230664,AL360176,CH471066,AF230665,AK314896,BC002573,BC004338,CR591021,CR600887,CR601670,CR607191,CR614085,DR156879,J03824 NP_000366,AAG36794,CAI12087,CAI12088,CAI12089,CAI12090,P10746,Q5T3L7,Q5T3L8,Q9BT54,ABM82862,ABM86049,EAW49221,EAW49222,EAW49223,EAW49224,EAW49225,EAW49226,EAW49227,EAW49228,EAW49229,AAG36795,BAG37410,AAH02573,AAH04338,AAA60273 Hs.501376 OTTHUMP00000020710|OTTHUMP00000020712|UROIIIS|hydroxymethylbilane hydrolyase|uroporphyrinogen-III cosynthase|uroporphyrinogen-III synthase protein-coding 1603634 USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae) 15029241,15272311,16354670,16381901,16344560,16189514,15489336,15489334,14702039,12761501,12477932,11076863,19369418 55850 NM_018467,CH471106,AB097050,AF220052,AK074683,BC006005,BC008455,BF448659,BI758045,DA506853,T86451,AC020913 NP_060937,EAW84574,EAW84575,EAW84576,BAC77403,AAF67645,BAC11136,AAH06005,AAH08455,Q9NZ43,CAL38678,ABZ92350 Hs.16187 MDS032|P31|SLT1 Q-SNARE|SNARE-like tail-anchored protein 1 homolog|USE1-like protein|protein p31|putative MAPK activating protein PM26|putative MAPK-activating protein PM26|vesicle transport protein USE1 protein-coding 733910 USF1 upstream transcription factor 1 This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 2313793,2313794,2313792,1580805 19913121,20628086,20682687,2249772,8576131,18234320,17353931,15054483,7852331,12917334,19087304,18974842,18845576,18817855,18802024,18758746,18660489,18593823,18577828,18445538,18303204,18276913,18167349,18165439,18097648,17885212,17823260,17765897,17673701,17574780,17379962,17309647,17065663,17016691,16943425,16936202,16870626,16699592,16531745,16386222,16381901,16288473,16225938,16199862,16186412,16132950,16076849,15985485,15976322,15864740,15767439,15489336,15489334,15358786,15242350,15187018,15175273,15111769,14991056,14644095,14573800,14514691,12970752,12923186,12851711,12791656,12684442,12663044,12477932,12444925,12403649,11948912,11945176,11230166,11076863,9537421,15959806,9384587,9160889,9053857,8486371,8306960,7774954,1961251,12611894,12857727,18070436,18307922,20180799,11256614,17970752,19303849,19389701,19533890,19720831,19730683,19750004,19910639,19995791,20031629,20054229 2313793,2313794,2313792,1580805 7391 NM_007122,NM_207005,NG_011612,AB017568,AL591806,AY593992,CH471121,AB098540,AK314876,AL832119,BC035505,X55666 NP_009053,NP_996888,BAA76541,CAI15371,CAI15372,AAS89301,EAW52675,EAW52676,BAC78384,BAG37391,AAH35505,CAA39201,P22415,Q7Z5Y1,CAL37633,CAL38711 Hs.414880 FCHL|FCHL1|HYPLIP1|MLTF|MLTFI|UEF|bHLHb11 OTTHUMP00000029695|class B basic helix-loop-helix protein 11|major late transcription factor 1|upstream stimulatory factor 1 protein-coding 2306325 USF1P upstream transcription factor 1 pseudogene 100151645 NG_007657,AP000112,AP000188,AP000297 USF1P pseudo 734370 USF2 upstream transcription factor 2, c-fos interacting This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1580863 20936779,20180799,1589769,8576131,8954795,7852331,19089909,19087304,19074828,18970934,18845576,18167349,18165439,17823260,17379962,17353931,17081983,16870626,16386222,16199862,15864740,15767439,15741164,15489334,15276216,15242350,15187018,15057824,15042619,14502648,12970752,12917334,12857727,12791656,12663044,12611894,12477932,11948912,11945176,11583024,11058604,10434034,9110174,9108421,9099698,9070273,9053857,8619474,1450663,19730683,19846536 7392 NM_003367,NM_207291,AD000684,Y07661,AK297022,AY007087,AY147880,BC042655,BC049821,CR536504,CR594001,CR600668,CR601198,CR609518,CR609877,CR612281,CR615182,M77476,S50537,X90824,X90825,X90826 NP_003358,NP_997174,AAB51179,CAA68942,BAG59553,AAN63092,AAH49821,CAG38742,AAB24368,CAA62339,CAA62340,CAA62341,Q15853,Q6YI47 Hs.454534 FIP|bHLHb12 FOS-interacting protein|c-fos interacting protein|class B basic helix-loop-helix protein 12|major late transcription factor 2|upstream stimulatory factor 2 protein-coding 1353597 USH1A Usher syndrome 1A (autosomal recessive, severe) 7393 1604645 USH1C Usher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 12407180,12136232,12107438,11810303,11139240,10973248,10508479,10500064,9760205,9653658,9610721,9373149,8125298,20801516,11311560,16464467,15219944,10973247,11398101,10209257,19297620,18484607,17407589,16713569,16301216,15660226,15578223,15489334,14759258,12665801,12588794,12485990,12477932,15461667,19683999,20142502,20379614 10083 NM_153676,NM_005709,NG_011883,AC124799,CH471064,AB006955,AB018687,AF039699,AF039700,AK024943,AK225614,AK290788,AK300936,AL711953,BC016057,BK000147,CR623186 NP_710142,NP_005700,EAW68431,EAW68432,EAW68433,EAW68434,BAA81739,BAA81740,AAC18048,AAC18049,BAB15040,BAF83477,BAG62565,AAH16057,DAA00086,Q7RTU8,Q9H758,Q9Y6N9 Hs.502072 AIE-75|DFNB18|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|ush1cpst antigen NY-CO-38/NY-CO-37|autoimmune enteropathy-related antigen AIE-75|harmonin|renal carcinoma antigen NY-REN-3|usher syndrome type-1C protein protein-coding 1351921 USH1E Usher syndrome 1E (autosomal recessive, severe) 9002666 7396 1312053 USH1G Usher syndrome 1G (autosomal recessive) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). [provided by RefSeq] 1599547 15660226,15489334,14702039,12786748,12477932,11941484,12588794,11398101,18484607,17896313,16283141,20801516,19683999,20142502,19028668 1599547 124590 AK296899,BC101096,BC101097,BC101098,BC101099,NM_173477,NG_007882,AC068874,CH471099,AK091243,AK289804 BAF82493,BAG59457,AAI01097,AAI01098,AAI01099,AAI01100,Q495M9,NP_775748,EAW89212,BAC03619 Hs.376688 ANKS4A|FLJ33924|SANS Usher syndrome type-1G protein|scaffold protein containing ankyrin repeats and SAM domain protein-coding 736503 USH2A Usher syndrome 2A (autosomal recessive, mild) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 634438 20145675,20591486,20628086,19913121,16434480,14676276,15671307,10090909,12433396,19023448,18665195,18641288,18519826,18484607,18463160,18452394,18273898,17405132,17360538,17296898,17085681,17081983,16767206,16710414,16545802,16301217,16301216,16114888,16098008,15823922,15325563,15241801,15025721,15015129,14970843,12786748,12525556,12427073,12160733,12112664,11788194,11402400,11311042,10909849,10775529,10738000,10729113,9624053,276901,20507924,19129697,19683999,19737284,19881469,20309401,20379614,20801516 634438 7399 NM_206933,NM_007123,NG_009497,AADB02001158,AC092799,AC093581,AC119429,AC138024,AF091889,AL139259,AL358452,AL358858,AL445650,AL513305,AF055580,AY481573 NP_996816,NP_009054,AAF75819,CAI23041,CAI19189,CAH71587,CAH71588,CAH70620,CAH70621,CAH73621,AAC23748,AAS47698,O75445 Hs.655974 RP39|US2|USH2|dJ1111A8.1 Usherin|usher syndrome type IIa protein|usher syndrome type-2A protein protein-coding 1349709 USH2B Usher syndrome 2B (autosomal recessive, mild) 10234513,7901420 7400 1346492 USH2C Usher syndrome 2C (autosomal recessive) 10745043 56830 1342890 USH3B Usher syndrome 3B 23662 1322004 USHBP1 Usher syndrome 1C binding protein 1 737633,1580863 11311560,16189514,16713569,15489334,14702039,12477932,19060904,19447967 737633 83878 AC010646,AC104522,CH471106,NM_031941,AB026290,AB040046,AK075162,AK096028,AK292031,AK300617,AK315239,BC027910,CR599813 EAW84582,NP_114147,EAW84581,EAW84583,BAB41203,BAB43978,BAC11443,BAC04680,BAF84720,BAG62310,BAG37666,AAH27910,Q8N6Y0,Q8N8Y1 Hs.512773 AIEBP|FLJ38709|FLJ90681|MCC2 AIE-75 binding protein protein|AIE-75-binding protein|MCC-2|USH1C-binding protein 1|Usher syndrome type-1C protein-binding protein 1 protein-coding 1347198 USMG5 up-regulated during skeletal muscle growth 5 homolog (mouse) 737633,1580863 15164054,12477932,16713569,16222733,15489334 737633 84833 NM_032747,AL591408,CH471066,AJ272056,AK311888,AL110185,AY740522,BC007087,BC072683,BC091507 NP_116136,CAI16748,EAW49642,EAW49643,EAW49644,CAC81243,BAG34829,AAU89079,AAH07087,AAH72683,AAH91507,Q96IX5 Hs.500921 DKFZp566D211|HCVFTP2|MGC14697|bA792D24.4 HCV F-transactivated protein 2|OTTHUMP00000020398|OTTHUMP00000020401|up-regulated during skeletal muscle growth protein 5|upregulated during skeletal muscle growth 5|upregulated during skeletal muscle growth 5 homolog protein-coding 2923065 USMG5P1 up-regulated during skeletal muscle growth 5 homolog (mouse) pseudogene 1 100288307 CH471104,NG_012722,Z83843 EAW98657 pseudo 733099 USO1 USO1 homolog, vesicle docking protein (yeast) The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Transport from the ER to the cis/medial Golgi compartments requires the action of this gene product, GM130 and giantin in a sequential manner. [provided by RefSeq] 17353931,9478999,19247479,19028683,18434597,17274799,17081983,16381901,16256943,16189514,15979508,15489336,15489334,14736916,12477932,12438416,12401177,12077354,11927603,11396975,11230166,11076863,11035033,10931861,10903204,9786945,9628863,9150144,1512287,15718469,14702039,12634853,12507498,20126549,16473624,19454686 8615 NM_003715,AC104828,AC110615,CH471057,AK002093,AK314289,AL832010,AL833753,BC006398,BC016672,BC032654,D86326 NP_003706,EAX05749,EAX05750,EAX05751,BAG36947,CAD89917,AAH06398,AAH32654,BAA25300,O60763,CAL37824,CAL38366,ABM84992,ABW03646 Hs.727520 P115|TAP|VDP OTTHUMP00000221102|USO1 homolog, vesicle docking protein|general vesicular transport factor p115|protein USO1 homolog|transcytosis associated protein|vesicle docking protein p115|vesicle docking protein, 115 kda|vesicle-docking protein protein-coding 1315093 USP1 ubiquitin specific peptidase 1 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 1580863 9827704,9806842,19075014,18082604,16381901,15694335,15489336,15489334,14702039,12838346,12477932,11256614,11230166,11076863,8889548,19536649,19615732,19690177 7398 NM_001017416,NM_003368,AC096946,CH471059,AB014458,AB208893,AF117386,AK096788,AK312423,AL117503,AL117575,AL599240,BC011881,NM_001017415,BC018745,BC023216,BC032364,BC040140,BC050525,BI463072,BQ018843,BQ186837,CR593195 NP_001017415,NP_001017416,NP_003359,EAX06585,EAX06586,BAA34703,BAD92130,AAD11441,BAG35333,CAB55967,CAB55999,AAH18745,AAH32364,AAH50525,O94782,CAL37634 Hs.35086 UBP deubiquitinating enzyme 1|hUBP|ubiquitin carboxyl terminal hydrolase 1|ubiquitin carboxyl-terminal hydrolase 1|ubiquitin specific processing protease 1|ubiquitin specific protease 1|ubiquitin thioesterase 1|ubiquitin thiolesterase 1|ubiquitin-specific-processing protease 1 protein-coding 1352341 USP10 ubiquitin specific peptidase 10 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. [provided by RefSeq] 1580863 18391951,17081983,17004105,16964243,16773218,16368182,16344560,15489334,15302935,15252450,14702039,12838346,12477932,11439350,20562859,18029348,19398555,19615732,20096447,20379614,8724849,18632802,9827704 9100 AC009116,AC025280,CH471114,AK055375,AK293304,AK299618,AK315570,AL162049,BC000263,BC064516,BX537402,CR617738,CR626589,CR749515,D80012,NM_005153,DB077919,HI179098 NP_005144,EAW95470,EAW95471,BAG56825,BAG61546,BAG37945,CAB82392,AAH00263,AAH64516,CAD97644,CAH18330,Q14694,Q68D90,Q6P2I0,ABM83479,ABM86690,CBX53857,BAA11507 Hs.136778 KIAA0190|MGC2621|UBPO deubiquitinating enzyme 10|ubiquitin carboxyl-terminal hydrolase 10|ubiquitin specific protease 10|ubiquitin thioesterase 10|ubiquitin thiolesterase 10|ubiquitin-specific-processing protease 10 protein-coding 1348071 USP10P1 ubiquitin specific peptidase 10 pseudogene 1 780779 NG_005813,AL512310 ubiquitin specific protease 10 pseudogene 1 pseudo 1604853 USP10P2 ubiquitin specific peptidase10 pseudogene 2 780778 NG_005812,CR383656 pseudo 1347156 USP11 ubiquitin specific peptidase 11 Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq] 1580863 14743216,12084015,14702039,12838346,12532266,12477932,11944989,9931462,9801870,16169070,17353931,19615732,19874889,20562859,9827704,18408009,8845848,17897950,15772651,15489334,15314155,20601937 8237 HI574234,NM_004651,NG_012546,AL096791,CH471164,AB073597,AK055588,AK098394,AK294635,BC000350,BC063668,BC073960,BC140849,BQ022385,CR604528,CR606453,U44839 CBX47606,NP_004642,CAD20056,CAI42996,EAW59288,EAW59289,BAC20463,BAG51540,BAG57814,AAH00350,AAH63668,AAI40850,AAC50450,P51784,Q5JXD3,Q6P453 Hs.171501 UHX1 OTTHUMP00000023205|deubiquitinating enzyme 11|ubiquitin carboxyl-terminal hydrolase 11|ubiquitin carboxyl-terminal hydrolase, X-linked|ubiquitin specific protease 11|ubiquitin thioesterase 11|ubiquitin thiolesterase 11|ubiquitin-specific processing protease 11|ubiquitin-specific-processing protease 11 protein-coding 1317587 USP12 ubiquitin specific peptidase 12 1580863 19615732,19915573,20147737,9615226,19075014,15489334,15057823,12838346,12477932 219333 NM_182488,AL158062,AL355473,CH471075,AF022789,AK289685,AL049221,BC026072 NP_872294,CAI16331,EAX08392,EAX08393,AAC23551,BAF82374,O75317,ABM85000,AAH26072,CAH70555 Hs.42400 UBH1|USP12L1 deubiquitinating enzyme 12|ubiquitin carboxyl-terminal hydrolase 12|ubiquitin specific protease 12|ubiquitin specific protease 12 like 1|ubiquitin thioesterase 12|ubiquitin thiolesterase 12|ubiquitin-hydrolyzing enzyme 1|ubiquitin-specific-processing protease 12 protein-coding 1346185 USP12P1 ubiquitin specific peptidase 12 pseudogene 1 12838346,9615226 9959 NG_002822,AC010306,AC091980,AF022790 UBH1|USP12 ubiquitin specific protease 12 pseudogene 1 pseudo 1351911 USP12P2 ubiquitin specific peptidase 12 pseudogene 2 254700 NG_002823,AL121877 USP12P2 pseudo 1343926 USP12P3 ubiquitin specific peptidase 12 pseudogene 3 12815422,9847074 359799 NG_002824,AC024038 USP12P3 ubiquitin specific protease 12 pseudogene 3 pseudo 1314436 USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) 1580863 9827704,9841226,18029348,16381901,16169070,15489336,15231748,12838346,12477932,11927605,11076863,17148452,19615732,20379614,14702039 8975 NM_003940,AC007687,AC125604,CH471052,AK290338,AK302404,BC016146,CR591494,CR623689,U75362,AK091484,BC049199,BC062766 NP_003931,EAW78383,EAW78384,BAF83027,BAG63715,AAH16146,AAC63405,Q92995,CAL38193,CAL38270,CAL38486,CAL38655,ABM83398,ABM86610 Hs.175322 ISOT3|IsoT-3 OTTHUMP00000212450|deubiquitinating enzyme 13|isopeptidase T-3|ubiquitin carboxyl-terminal hydrolase 13|ubiquitin specific protease 13 (isopeptidase T-3)|ubiquitin thioesterase 13|ubiquitin thiolesterase 13|ubiquitin-specific-processing protease 13 protein-coding 1323483 USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 14702039,12838346,9827704,8579355,18029348,19135427,17553343,17079671,16465409,16211010,15489334,14962675,12477932,19106094,14499622,18162577,19615732,19726649,20237496 9097 NM_005151,NM_001037334,AP000845,CH471113,AK095516,AK098497,AK297605,AK315438,BC003556,BG717018,BT007183,BU161860,CA438203,CR597157,CR604259,CR617599,CR976282,U30888 NP_005142,NP_001032411,EAX01735,EAX01736,EAX01737,EAX01738,BAG53076,BAH12624,BAG37826,AAH03556,AAP35847,AAB60365,P54578,ABM92211,ABM84688 Hs.464416,Hs.707058 TGT deubiquitinating enzyme 14|tRNA-guanine transglycosylase, 60-kD subunit|ubiquitin carboxyl-terminal hydrolase 14|ubiquitin specific protease 14 (tRNA-guanine transglycosylase)|ubiquitin thioesterase 14|ubiquitin thiolesterase 14|ubiquitin-specific processing protease 14|ubiquitin-specific-processing protease 14 protein-coding 733296 USP15 ubiquitin specific peptidase 15 Ubiquitin (MIM 191339), a highly conserved protein involved in the regulation of intracellular protein breakdown, cell cycle regulation, and stress response, is released from degraded proteins by disassembly of the polyubiquitin chains. The disassembly process is mediated by ubiquitin-specific proteases (USPs). Also see USP1 (MIM 603478).[supplied by OMIM] 1580863 16298993,16005295,15494318,14702039,12838346,12532266,12477932,12168954,9628581,9827704,17353931,10444327,19576224,18029348,16964243,19553310,19615732,20379614 9958 NM_006313,AC048342,AC079035,AC117370,CH471054,AB011101,AF013990,AF106069,AF153604,AK023703,AK292337,AK297759,BC020688,BC063454,BC110908,BC125123,CR600092 NP_006304,EAW97104,EAW97105,EAW97106,BAA25455,AAG28973,AAD52099,AAD41086,BAB14648,BAF85026,BAG60108,AAH20688,AAH63454,AAI10909,AAI25124,Q08AL5,Q2NL66,Q9H8G9,Q9Y4E8 Hs.434951 KIAA0529|MGC131982|MGC149838|MGC74854|UNPH4 deubiquitinating enzyme 15|ubiquitin carboxyl-terminal hydrolase 15|ubiquitin specific protease 15|ubiquitin thioesterase 15|ubiquitin thiolesterase 15|ubiquitin-specific-processing protease 15|unph-2 protein-coding 1316236 USP16 ubiquitin specific peptidase 16 This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 17914355,17512543,10077596,18925961,15489334,15302935,15231747,14702039,12838346,12477932,12107411,10830953,9827704,9373149,8125298,19615732 10600 NM_006447,NM_001001992,AF129075,AL163249,CH471079,AF113219,AF126736,AK023247,AK025104,AK025989,AK090776,AK222681,AK222884,NM_001032410,AK294284,AK300771,AK302247,AY333928,BC010375,BC030777,BQ637016,CB960929,CR618560,W57837 NP_001027582,NP_006438,NP_001001992,CAB90432,EAX09927,EAX09928,EAX09929,AAG39290,AAD20949,BAG51175,BAD96401,BAD96604,BAG57569,BAG62436,BAG63599,AAR13293,AAH30777,Q9Y5T5,ABM83321,ABM86536 Hs.99819 UBP-M deubiquitinating enzyme 16|ubiquitin carboxyl-terminal hydrolase 16|ubiquitin specific protease 16|ubiquitin thioesterase 16|ubiquitin thiolesterase 16|ubiquitin-processing protease UBP-M|ubiquitin-specific processing protease 16|ubiquitin-specific-processing protease 16 protein-coding 1349777 USP17 ubiquitin specific peptidase 17 19615732,20147298,20388806,17109758,15815621,15780755,12838346,12477932,11941478,11181995,10936051,9806828,9192848,20368735 391627 NM_001105662,AC116655,CH471069,D38378,AF544011,AF544012,AY188990,BC100991,BC100992,BC100993 NP_001099132,EAW92671,AAQ11741,AAQ11742,AAO38845,Q0WX57 Hs.722783,Hs.723053,Hs.553810,Hs.631527 MGC119330|MGC119331|MGC119333|RS447|USP17A|USP17H|USP17I|USP17J|USP17K|USP17L|USP17M deubiquitinating enzyme 17|deubiquitinating enzyme 3-like|ubiquitin carboxyl-terminal hydrolase 17|ubiquitin specific protease 17|ubiquitin thioesterase 17|ubiquitin thiolesterase 17|ubiquitin-specific-processing protease 17 protein-coding 3029324 USP17L1P ubiquitin specific peptidase 17-like 1 (pseudogene) 12838346,15780755,16421571,17109758 401447 AF228730,BN000116,NG_016610 CAD66056,Q7RTZ2 USP17L1 pseudo 1605214 USP17L2 ubiquitin specific peptidase 17-like 2 DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM] 19615732,20228808,19718026,14699124 377630 NM_201402,AC130366,AY509884 NP_958804,AAR91701,Q6R6M4,AAI56291,AAI57074 Hs.531448 DUB3 DUB-3|deubiquitinating enzyme 17-like protein 2|deubiquitinating enzyme 3|deubiquitinating protein 3|ubiquitin carboxyl-terminal hydrolase 17-like protein 2|ubiquitin thioesterase 17-like protein 2|ubiquitin thiolesterase 17-like protein 2|ubiquitin-specific-processing protease 17-like protein 2 protein-coding 2312705 USP17L3 ubiquitin specific peptidase 17-like 3 17109758,16421571,15780755,20395239 645836 NG_012787,AC130365 A6NCW0 USP17B|USP17F pseudo 2312696 USP17L4 ubiquitin specific peptidase 17-like 4 17109758,16421571,15780755 645402 NG_012785,AC130360 A6NCW7 pseudo 2800946 USP17L5 ubiquitin specific peptidase 17-like 5 15780755,15815621,17109758 728386 AC116655,XM_001130437 A8MUK1,XP_001130437 OTTHUMP00000217749|Ubiquitin carboxyl-terminal hydrolase 17-like protein 5|ubiquitin specific peptidase 17-like 5 protein-coding 2793512 USP17L6P ubiquitin specific peptidase 17-like 6 (pseudogene) 15780755,17109758 391622 NR_027279,AC116655,AY533200 AAS59847,Q6QN14 Hs.722658 DUB4|USP17L6|vDUB4 pseudo 2312702 USP17L7 ubiquitin specific peptidase 17-like 7 16421571,17109758,15780755,19615732 392197 NG_012788,AC130366 P0C7H9 pseudo 2312703 USP17L8 ubiquitin specific peptidase 17-like 8 17109758,16421571,15780755 392188 NG_012786,AC130365 P0C7I0 pseudo 1353279 USP18 ubiquitin specific peptidase 18 USP18, a member of the deubiquitinating protease family of enzymes, removes ubiquitin adducts from a broad range of protein substrates.[supplied by OMIM] 1549873,1580863 10777664,17374743,16381901,15489336,15489334,15461802,15342634,12477932,11788588,11313150,11230166,11076863,10722734,16189514,12838346,11256614,16710296,19551150,19615732,20068173 1549873 11274 NM_017414,AC008079,CH471193,AF176642,AI222587,AJ243526,AK313385,AL136690,BC014896,BI752849,BT006835,BU584005,CR457216,CR604420,CT841507 NP_059110,EAW57790,EAW57791,AAD49967,CAB76398,BAG36183,CAB66625,AAH14896,AAP35481,CAG33497,CAJ86437,Q53Y90,Q9UMW8,CAL38273,CAK54503,CAK54802 Hs.38260 ISG43|UBP43 43 kDa ISG15-specific protease|ISG15-specific-processing protease|hUBP43|ubiquitin specific protease 18|ubl carboxyl-terminal hydrolase 18|ubl thioesterase 18|ubl thiolesterase 18 protein-coding 1344113 USP19 ubiquitin specific peptidase 19 1580863 15302935,12838346,12477932,10048485,19465887,19615732 10869 NM_006677,AC135506,CH471055,AB020698,AK294756,AK296447,AK300425,BC014934,BC048269,BC065909,BC082241,BC106029,BC128088,BC142660,BC142727,BC146752,EF036501,DC323791,DC332671,NM_001199160,NM_001199161,NM_001199162 NP_006668,EAW64955,EAW64956,EAW64957,BAA74914,BAG57894,BAG59098,BAG62152,AAH48269,AAH65909,AAH82241,AAI06030,AAI42661,AAI42728,AAI46753,ABO65087,O94966,NP_001186089,NP_001186090,NP_001186091 Hs.255596 ZMYND9 OTTHUMP00000164977|OTTHUMP00000164978|OTTHUMP00000210659|OTTHUMP00000210660|deubiquitinating enzyme 19|ubiquitin carboxyl-terminal hydrolase 19|ubiquitin specific protease 19|ubiquitin thioesterase 19|ubiquitin thiolesterase 19|ubiquitin-specific-processing protease 19|zinc finger MYND domain-containing protein 9 protein-coding 731337 USP2 ubiquitin specific peptidase 2 Ubiquitin (MIM 191339), a highly conserved protein involved in the regulation of intracellular protein breakdown, cell cycle regulation, and stress response, is released from degraded proteins by disassembly of the polyubiquitin chains. The disassembly process is mediated by ubiquitin-specific proteases (USPs). Also see USP1 (MIM 603478).[supplied by OMIM] 1580863 20403044,9827704,16189514,18029348,17553343,17502873,17290220,16344560,15489334,15050917,14743216,14702039,12838346,12566314,12477932,9325273,16905103,19615732,19838211,19917254 9099 NM_004205,NM_171997,AP003396,CH471065,EF445044,AF079564,AF440755,AI806430,AK057225,AK292255,AK301805,BC002854,BC002955,BC041366,DB065104,DB098786 NP_004196,NP_741994,EAW67484,EAW67485,EAW67486,ACA06096,ACA06097,AAC28392,AAN65363,BAB71388,BAF84944,BAH13558,AAH02854,AAH02955,AAH41366,O75604,ABM83458,ABM86669 Hs.524085 UBP41|USP9 41 kDa ubiquitin-specific protease|deubiquitinating enzyme 2|ubiquitin carboxyl-terminal hydrolase 2|ubiquitin specific protease 12|ubiquitin specific protease 2|ubiquitin specific protease 9|ubiquitin thioesterase 2|ubiquitin thiolesterase 2|ubiquitin-specific-processing protease 2 protein-coding 1313758 USP20 ubiquitin specific peptidase 20 1580863 18029348,19424180,17081983,16344560,15776016,15342556,15164053,12865408,12838346,12477932,12056827,10369878,10231032,17350623,19615732,19851296,20198315 10868 NM_006676,NM_001110303,NM_001008563,AL158207,CH471090,Y17457,Y17458,Y17459,AB023220,AY074877,BC033669,BC039593,BF727180,BP246486,BQ882312,BX462233,CR589994,DA791069 NP_006667,NP_001103773,NP_001008563,CAC88170,EAW87911,EAW87912,EAW87913,EAW87914,EAW87915,CAB44350,CAB44351,CAB44352,BAA76847,AAL79676,AAH39593,Q9UQN9,Q9Y2K6 Hs.5452 KIAA1003|LSFR3A|VDU2 VHL-interacting deubiquitinating enzyme 2|deubiquitinating enzyme 20|hVDU2|pVHL-interacting deubiquitinating enzyme 2|ubiquitin carboxyl-terminal hydrolase 20|ubiquitin specific protease 20|ubiquitin thioesterase 20|ubiquitin thiolesterase 20|ubiquitin-specific-processing protease 20 protein-coding 1349681 USP21 ubiquitin specific peptidase 21 This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants have been described. [provided by RefSeq] 1580863 15231747,10786635,15489334,12477932,10799498,8889549,19615732,19910467 27005 NM_001014443,NM_012475,AL590714,CH471121,AB208899,AF177758,AF217979,AF233442,AI038040,AK292319,AK310326,AL157417,BC003130,BC090946,BC136291,BI463191,BI755746,BM742944,N76159,T77123 NP_001014443,NP_036607,CAH72142,CAH72143,EAW52642,EAW52643,EAW52644,EAW52645,BAD92136,AAD54321,AAG17222,AAF61308,BAF85008,CAB75649,AAH03130,AAH90946,AAI36292,Q9NSS9,Q9UK80 Hs.8015 MGC3394|USP16|USP23 NEDD8-specific protease|OTTHUMP00000031884|deubiquitinating enzyme 21|ubiquitin carboxyl-terminal hydrolase 21|ubiquitin specific protease 21|ubiquitin thioesterase 21|ubiquitin thiolesterase 21|ubiquitin-specific processing protease 21|ubiquitin-specific protease 16|ubiquitin-specific-processing protease 21 protein-coding 1321210 USP22 ubiquitin specific peptidase 22 1580863 18206973,18206972,16378762,18469533,15931389,12838346,12477932,11707075,10470851,16169070,18838386,19615732 23326 NM_015276,AC087393,AB028986,AK025331,AK130677,AL049258,AL110213,BC007196,BC013364,BC025317,BC050994,BC084550,BC110499,BC126898,BX640815,CR602078,CR602184,CR616800 NP_056091,BAA83015,AAH07196,AAH25317,AAI10500,AAI26899,CAE45893,Q9NSJ7,Q9UPT9 Hs.462492 KIAA1063|USP3L OTTHUMP00000164990|deubiquitinating enzyme 22|ubiquitin carboxyl-terminal hydrolase 22|ubiquitin specific peptidase 3-like|ubiquitin specific protease 22|ubiquitin thioesterase 22|ubiquitin thiolesterase 22|ubiquitin-specific processing protease 22|ubiquitin-specific-processing protease 22 protein-coding 1315618 USP24 ubiquitin specific peptidase 24 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM] 1580863 17081983,16964243,16917932,15489334,15302935,15146197,15144186,14715245,14702039,12838346,12477932,11181995,10470851,20302855 23358 NM_015306,AC091609,CH471059,AB028980,AK000321,AK055871,AK127075,AL832370,BC029660,BU156226,BX953826,CN255594 NP_056121,EAX06657,EAX06658,EAX06659,BAA83009,BAA91084,BAC86814,AAH29660,Q9UPU5,AAI60138 Hs.477009 FLJ31309|KIAA1057 deubiquitinating enzyme 24|ubiquitin carboxyl-terminal hydrolase 24|ubiquitin specific protease 24|ubiquitin thioesterase 24|ubiquitin thiolesterase 24|ubiquitin-specific processing protease 24|ubiquitin-specific-processing protease 24 protein-coding 1319103 USP25 ubiquitin specific peptidase 25 Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM] 1580863 10644437,18538659,18523997,16501887,14702039,12838346,12477932,11597335,10830953,10612803,15231748,19165232,19440361,19615732,19909739,20379614,19760754 29761 NM_013396,AJ010597,AJ010598,CH471079,AF134213,AF170562,AK022447,AK022574,BC015930,BC075792,BI256537,BQ215557,CR600261,FJ763652,AK094083,BC018686 NP_037528,EAX10041,EAX10042,EAX10043,EAX10044,EAX10045,AAF24998,AAF32263,BAB14037,BAB14107,AAH15930,AAH75792,ACN76567,Q96B65,Q9HA22,Q9UHP3 Hs.726023 USP21 OTTHUMP00000083055|USP on chromosome 21|deubiquitinating enzyme 25|ubiquitin carboxyl-terminal hydrolase 25|ubiquitin specific protease 25|ubiquitin thioesterase 25|ubiquitin thiolesterase 25|ubiquitin-specific processing protease 25|ubiquitin-specific-processing protease 25 protein-coding 1354275 USP26 ubiquitin specific peptidase 26 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq] 1580863 18029348,17968467,17121659,16888075,15970005,15772651,15562280,15489334,12838346,12477932,11279525,18377898,18062861,18958354,18927127,19615732,20378615,20501646 83844 NM_031907,CH471107,Z81365,AF285593,AK292527,BC069073,BC101189,BC101190,BC101191,BC101192,NG_013268 NP_114113,EAX11774,AAK31972,BAF85216,AAH69073,AAI01190,AAI01191,AAI01192,Q495F8,Q9BXU7,CAX30813 Hs.333137 MGC120066|MGC120067|MGC120068 OTTHUMP00000024046|OTTHUMP00000217678|deubiquitinating enzyme 26|ubiquitin carboxyl-terminal hydrolase 26|ubiquitin specific protease 26|ubiquitin thioesterase 26|ubiquitin thiolesterase 26|ubiquitin-specific processing protease 26|ubiquitin-specific-processing protease 26 protein-coding 1350698 USP27X ubiquitin specific peptidase 27, X-linked 18029348,12838346,10737800,19615732 389856 AW290976,AY672104,NM_001145073,AF238380,CH471180 A6NNY8,NP_001138545,EAW89930 Hs.143587 USP22L|USP27 X-linked ubiquitin carboxyl-terminal hydrolase 27|deubiquitinating enzyme 27|ubiquitin carboxyl-terminal hydrolase 22-like|ubiquitin carboxyl-terminal hydrolase 27|ubiquitin specific protease 27, X chromosome|ubiquitin thioesterase 27|ubiquitin thiolesterase 27|ubiquitin-specific-processing protease 27 protein-coding 1323075 USP28 ubiquitin specific peptidase 28 The ubiquitin-dependent protein degradation pathway is essential for proteolysis of intracellular proteins and peptides. Enzymes that remove ubiquitin from ubiquitin-conjugated peptides, like USP28, affect the fate and degradation of intracellular proteins and are essential for maintenance of cell-free ubiquitin pools (Valero et al., 2001).[supplied by OMIM] 1580863 18029348,17873522,17558397,16901786,14702039,12838346,12477932,11597335,10819331,18662541,19615732 57646 EF445045,NM_020886,AP001874,AP003170,CH471065,AB040948,AF266283,AK027521,AK097623,AK304376,AK304770,BC035986,BC065928,BF434481,BU940680,CD704003 ACA06098,NP_065937,EAW67231,EAW67232,EAW67233,EAW67234,EAW67235,BAA96039,AAK58565,BAB55172,BAG65214,BAG65525,AAH65928,Q6NZX9,Q96RU2,Q96SV4 Hs.503891 KIAA1515 deubiquitinating enzyme 28|ubiquitin carboxyl-terminal hydrolase 28|ubiquitin specific protease 28|ubiquitin thioesterase 28|ubiquitin thiolesterase 28|ubiquitin-specific-processing protease 28 protein-coding 1315382 USP29 ubiquitin specific peptidase 29 1580863 10958632,12838346,12477932,19615732 57663 NM_020903,AC025588,AF124433,AF229438,AK308285,BC130394,BC130398,HC044595 NP_065954,AAG10401,AAI30395,AAI30399,Q9HBJ7,CBH30627,ADR83412 Hs.515632 HOM-TES-84/86|MGC163266|MGC163270 deubiquitinating enzyme 29|ubiquitin carboxyl-terminal hydrolase 29|ubiquitin specific protease 29|ubiquitin thioesterase 29|ubiquitin thiolesterase 29|ubiquitin-specific processing protease|ubiquitin-specific-processing protease 29 protein-coding 1318862 USP3 ubiquitin specific peptidase 3 1580863 10480896,17980597,14702039,12838346,12477932,19615732,20379614,20445134 9960 AC007950,AC118274,CH471082,AF073344,AF077040,AI695842,AK022931,AK300948,AK301236,AK301563,AK307810,AK309382,AK314223,AY461579,BC018113,BC065300,BC100029,BC107137,BC107138,NM_006537,BT007269,BX647760 NP_006528,EAW77651,AAD42992,AAD27773,BAG51139,BAG62577,BAG62807,BAG63058,AAT37507,AAH18113,AAH65300,AAI00030,AAI07138,AAI07139,AAP35933,Q498Y2,Q6JHV3,Q9Y2R8,Q9Y6I4,ABM81951,ABM85131 Hs.458499 MGC129878|MGC129879|SIH003|UBP deubiquitinating enzyme 3|ubiquitin carboxyl-terminal hydrolase 3|ubiquitin specific protease 3|ubiquitin thioesterase 3|ubiquitin thiolesterase 3|ubiquitin-specific-processing protease 3 protein-coding 1317441 USP30 ubiquitin specific peptidase 30 USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM] 18287522,15489334,15146197,14715245,14702039,12838346,12477932,19615732 84749 NM_032663,AC011596,CH471054,AA856774,AI867665,AJ586136,AK027820,AK097830,AL834278,BC004868,BC022094,BG149730,BX095894,CN367077 NP_116052,EAW97842,EAW97843,EAW97844,CAE51936,BAB55392,BAG53537,AAH04868,AAH22094,Q70CQ3,ABM84327,ABM87782 Hs.486434,Hs.660996 FLJ40511|MGC10702 OTTHUMP00000164981|deubiquitinating enzyme 30|ub-specific protease 30|ubiquitin carboxyl-terminal hydrolase 30|ubiquitin specific protease 30|ubiquitin thioesterase 30|ubiquitin thiolesterase 30|ubiquitin-specific protease 30|ubiquitin-specific-processing protease 30 protein-coding 1317813 USP31 ubiquitin specific peptidase 31 18029348,16341674,16214042,15354349,14715245,14702039,12838346,10574462 57478 NM_020718,AC099482,AC127459,CH471145,AB033029,AJ586135,AK057491,AK092790,AK126447,AK126752,BM842261,BX648357 NP_065769,EAW55835,EAW55836,BAA86517,CAE51935,BAG52610,BAC86554,CAH10383,Q70CQ4,AAI56335 Hs.183817 KIAA1203 deubiquitinating enzyme 31|ubiquitin carboxyl-terminal hydrolase 31|ubiquitin specific protease 31|ubiquitin specific proteinase 31|ubiquitin thioesterase 31|ubiquitin thiolesterase 31|ubiquitin-specific-processing protease 31 protein-coding 1315395 USP32 ubiquitin specific peptidase 32 17081983,14702039,12838346,12604796,12477932,10508479,19615732,20379614,20549504 84669 NM_032582,AC003962,AC025048,AC037475,AC104763,AY163319,CH471109,AF155116,AF350251,AF533230,AK057301,AK091680,BC054344,BC070497,BC094680,BI459907 NP_115971,AAO21353,EAW94356,EAW94357,EAW94358,AAD42882,AAK30207,AAM97922,AAH54344,AAH70497,AAH94680,Q4VC15,Q6IRT0,Q7Z5T3,Q86WP5,Q8NFA0,AAI56265 Hs.726272 NY-REN-60|USP10 deubiquitinating enzyme 32|renal carcinoma antigen NY-REN-60|ubiquitin carboxyl-terminal hydrolase 32|ubiquitin specific protease 32|ubiquitin thioesterase 32|ubiquitin thiolesterase 32|ubiquitin-specific-processing protease 32 protein-coding 1317280 USP33 ubiquitin specific peptidase 33 11739384,19424180,19363159,19118533,17766394,15489334,14702039,12865408,12838346,12477932,12056827,10470851,9373149,8125298,16169070,20724312,17452445,19615732,19684588,19706539 23032 NM_201624,NM_015017,NM_201626,AC114487,CH471059,AB029020,AF383172,AF383173,AI569971,AK022864,AK023664,AK225499,AK308402,AL050140,BC016663,BU631866,CR619326 NP_963918,NP_055832,NP_963920,EAX06367,EAX06368,EAX06369,EAX06370,EAX06371,BAA83049,AAL78314,AAL78315,BAB14279,CAB43288,AAH16663,Q8TEY7,Q9Y417,ABM82413,ABM85598 Hs.726151 KIAA1097|MGC16868|VDU1 OTTHUMP00000011330|VHL-interacting deubiquitinating enzyme 1|deubiquitinating enzyme 33|hVDU1|pVHL-interacting deubiquitinating enzyme 1|ubiquitin carboxyl-terminal hydrolase 33|ubiquitin specific protease 33|ubiquitin thioesterase 33|ubiquitin thiolesterase 33|ubiquitin-specific-processing protease 33 protein-coding 1318847 USP34 ubiquitin specific peptidase 34 15489334,15345747,14715245,14702039,12838346,12477932,12168954,9872452,9628581,17478428,20379614 9736 NM_014709,AC016727,AC016747,AC016894,AC018889,CH471053,AB011142,AB018272,AJ586138,AK001193,AK022637,AK023171,AK023845,AK024341,AK124932,AK125898,AK126741,AL050092,AL050376,AL831918,AW293998,BC022783,BC062325,BC107761,BC141839,BX473680 NP_055524,EAW99998,BAA25496,BAA34449,CAE51938,BAG54261,CAB43264,CAD38579,AAH22783,AAH62325,AAI07762,Q70CQ2 Hs.644708 FLJ43910|KIAA0570|KIAA0729|MGC104459 deubiquitinating enzyme 34|ubiquitin carboxyl-terminal hydrolase 34|ubiquitin specific protease 34|ubiquitin thioesterase 34|ubiquitin thiolesterase 34|ubiquitin-specific-processing protease 34 protein-coding 1353275 USP35 ubiquitin specific peptidase 35 1580863 15146197,14715245,14702039,12838346,12477932,10718198,19913121,20628086,16344560,20237496 57558 AP002985,CH471076,AB037793,AJ586137,NM_020798,AK307875,BC131489,BU631962,CN287538,AK056231,AK301048,DB095282 NP_065849,EAW75056,BAA92610,BAG62660,AAI31490,Q9P2H5,BAG51653,CAE51937 Hs.531249 deubiquitinating enzyme 35|ubiquitin carboxyl-terminal hydrolase 35|ubiquitin specific protease 35|ubiquitin thioesterase 35|ubiquitin thiolesterase 35|ubiquitin-specific-processing protease 35 protein-coding 1320548 USP36 ubiquitin specific peptidase 36 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP36 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM] 19208757,18566677,17081983,16565220,15809067,15635413,15254734,14715245,14702039,12838346,12477932,12429849,10819331,9373149,8125298,18029348,19615732,19679658 57602 NM_025090,AC022966,CH471099,AB040886,AK001671,AK022840,AK022913,AK225155,AK225426,AL833835,AY169386,BC013890,BC016487,BC027992,BC038983,BC071582 NP_079366,EAW89533,EAW89534,EAW89535,EAW89536,BAA95977,BAA91825,BAG51124,BAB14306,CAD38695,AAO34133,AAH16487,AAH27992,AAH38983,AAH71582,Q9H9C5,Q9P275 Hs.464243 DUB1 deubiquitinating enzyme 1|deubiquitinating enzyme 36|ubiquitin carboxyl-terminal hydrolase 36|ubiquitin specific protease 36|ubiquitin thioesterase 36|ubiquitin thiolesterase 36|ubiquitin-specific-processing protease 36 protein-coding 1315889 USP37 ubiquitin specific peptidase 37 17081983,16381901,16344560,15489336,15324660,14715245,14702039,12838346,12477932,11230166,11076863,10997877,11256614,19615732,19851296,20198315 57695 NM_020935,AC012510,AC073838,CH471063,AB046814,AK095577,AK128583,AL832645,BC037389,BC050461,BC112901,BC133007,BC133009,BC144249,BC144252,BX538024,DB075170 NP_065986,AAY14887,EAW70621,EAW70622,EAW70623,BAB13420,CAD89955,AAH50461,AAI12902,AAI33008,AAI33010,AAI44250,AAI44253,CAD97970,Q2KHT2,Q7Z3A5,Q86T82,Q86W68,CAL37807,CAL38294 Hs.166068 KIAA1594|MGC117261 OTTHUMP00000207151|deubiquitinating enzyme 37|tmp_locus_50|ubiquitin carboxyl-terminal hydrolase 37|ubiquitin specific protease 37|ubiquitin thioesterase 37|ubiquitin thiolesterase 37|ubiquitin-specific-processing protease 37 protein-coding 1323709 USP38 ubiquitin specific peptidase 38 15489334,14715245,14702039,12838346,12477932,11572484,10931946,19615732 84640 NM_032557,AC099549,AC116175,CH471056,AB067478,AF211481,AK057992,AK091712,AK093289,AK093754,AK126943,AL833976,AW293752,BC017668,BC039115,BC068975,BG575871,BM053004,CR619187 ADR82725,NP_115946,EAX05075,EAX05076,EAX05077,BAB67784,AAK26248,BAB71627,BAC03730,BAG52681,BAG54405,CAD38820,AAH39115,AAH68975,Q3ZCV1,Q8NB14 Hs.480848 FLJ35970|HP43.8KD|KIAA1891 OTTHUMP00000220204|deubiquitinating enzyme 38|ubiquitin carboxyl-terminal hydrolase 38|ubiquitin specific protease 38|ubiquitin thioesterase 38|ubiquitin thiolesterase 38|ubiquitin-specific-processing protease 38 protein-coding 1317682 USP39 ubiquitin specific peptidase 39 17353931,10022888,18728397,17081983,15489334,14702039,12838346,12477932,11350945,10810093,9373149,8125298,15761153,17643375,19615732,20379614 10713 NM_006590,AC012454,CH471053,AF130096,AF132955,AF161450,AF353989,AK001047,AK001772,AK056334,AK129872,AK222852,AK289451,AK295257,AK309485,AL117416,BC001384,BC067273,BX462623,CR599389,CR616188,AK302236 NP_006581,EAW99490,EAW99491,EAW99492,EAW99493,EAW99494,AAG35521,AAD27730,AAF29010,AAK49524,BAG50852,BAG50973,BAG51679,BAD96572,BAF82140,BAG58246,AAH01384,AAH67273,Q53GS9,BAH13655 Hs.654745 CGI-21|HSPC332|MGC75069|SAD1|SNRNP65 65K|OTTHUMP00000203102|OTTHUMP00000203269|OTTHUMP00000203271|SAD1 homolog|SnRNP assembly defective 1 homolog|U4/U6.U5 tri-snRNP-associated 65 kDa protein|U4/U6.U5 tri-snRNP-associated protein 2|inactive ubiquitin-specific peptidase 39|small nuclear ribonucleoprotein 65kDa (U4/U6.U5)|ubiquitin specific protease 39 protein-coding 1347295 USP3L ubiquitin specific protease 3-like 79397 1344173 USP4 ubiquitin specific peptidase 4 (proto-oncogene) 1580863 9464533,11461834,9827704,8183569,19367581,16472766,16344560,16316627,15489334,12838346,12477932,11571652,11571651,9373149,8125298,7784062,20141612,16169070,16339847,19615732,20307617 7375 NM_003363,AC121247,CH471055,AF017305,AF017306,AI887410,AK127055,AK222725,AK223292,AK291795,BC068017,BC125130,BC125131,BG717217,BU632996,CR594108,DA267618,DB534804,U20657,NM_199443 NP_955475,NP_003354,EAW64968,EAW64969,EAW64970,EAW64971,EAW64972,EAW64973,AAC27355,AAC27356,BAD96445,BAD97012,BAF84484,AAI25131,AAI25132,AAB72237,Q08AK7,Q13107,Q53FJ3,Q53H56 Hs.77500,Hs.403828 MGC149848|MGC149849|UNP|Unph OTTHUMP00000210717|deubiquitinating enzyme 4|ubiquitin carboxyl-terminal esterase 4|ubiquitin carboxyl-terminal hydrolase 4|ubiquitin specific protease 4 (proto-oncogene)|ubiquitin thioesterase 4|ubiquitin thiolesterase 4|ubiquitin-specific processing protease 4|ubiquitin-specific-processing protease 4|ubiquitous nuclear protein homolog protein-coding 1320045 USP40 ubiquitin specific peptidase 40 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM] 1580863 18029348,16917932,15815621,15489334,14715245,14702039,12838346,12477932,12045112,11673459,20302855 55230 NM_018218,AC019072,AC019221,CH471063,AI375976,AJ583821,AK001647,AK124094,AK297821,AL833371,BC013305,BC067300,BC086855,CR594906,CR624131,AK295112 NP_060688,EAW71051,EAW71052,CAE47748,BAA91807,BAC85770,BAG60158,AAH67300,Q9NVE5,AAI56499,BAG58142 Hs.96513 FLJ10785|FLJ42100 OTTHUMP00000216386|deubiquitinating enzyme 40|ubiquitin carboxyl-terminal hydrolase 40|ubiquitin specific protease 40|ubiquitin thioesterase 40|ubiquitin thiolesterase 40|ubiquitin-specific-processing protease 40 protein-coding 1604943 USP41 ubiquitin specific peptidase 41 14715245,12838346,19615732 373856 AC007731,AC011718,AJ583822,AJ586979,AK303463,XM_036729,XM_937988,XM_001718645,XM_003119842 CAE47749,CAE52971,BAG64505,Q3LFD5,XP_036729,XP_943081,XP_001718697,XP_003119890 Hs.581057 OTTHUMP00000199828|deubiquitinating enzyme 41|putative ubiquitin carboxyl-terminal hydrolase 41|ubiquitin specific protease 41|ubiquitin specific proteinase 41|ubiquitin thioesterase 41|ubiquitin thiolesterase 41|ubiquitin-specific-processing protease 41 protein-coding 1313136 USP42 ubiquitin specific peptidase 42 1580863 18029348,17081983,15489334,15302935,14715245,14702039,12838346,12477932,8889548,19615732 84132 CH878731,AA936550,AJ601395,AK022759,AK298164,AK301527,AK309375,AY618868,BC060846,BC132862,BC136656,BF725643,BM980885,BM995466,BU187025,BU567897,DB457216,DR001777,NM_032172,AC004895,CH236963 EAW55047,EAW55048,CAE53097,BAB14232,BAG60437,BAG63029,AAT67238,AAH60846,AAI32863,Q0VIN8,Q9H9J4,NP_115548,EAL23715,EAL23716 Hs.31856,Hs.707731 FLJ12697 deubiquitinating enzyme 42|ubiquitin carboxyl-terminal hydrolase 42|ubiquitin specific protease 42|ubiquitin thioesterase 42|ubiquitin thiolesterase 42|ubiquitin-specific-processing protease 42 protein-coding 1317758 USP43 ubiquitin specific peptidase 43 1580863 16344560,14715245,14702039,12838346,12477932,19615732,20379614 124739 BC144041,NM_153210,AC027045,AC118755,AJ583817,AK055188,AK090821,BC039653,BC136368,BC171759,BX648526,DA769847 NP_694942,CAE47744,BAB70869,AAI36369,AAI44042,AAI71759,Q70EL4 Hs.709621 FLJ30626 deubiquitinating enzyme 43|ubiquitin carboxyl-terminal hydrolase 43|ubiquitin specific protease 43|ubiquitin thioesterase 43|ubiquitin thiolesterase 43|ubiquitin-specific-processing protease 43 protein-coding 1317864 USP44 ubiquitin specific peptidase 44 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP44 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM] 1580863 12477932,11230166,11076863,11256614,17443180,16381901,15489336,15489334,14715245,14702039,12838346,19615732 84101 NM_032147,NM_001042403,AC018475,CH471054,AK027434,AK315697,AL136825,BC030704,DB462518 NP_115523,NP_001035862,EAW97540,EAW97541,EAW97542,BAG38060,CAB66759,AAH30704,Q9H0E7,CAL37419,ABM81771,ABM84925,ACE87535,ACE86848 Hs.646421 DKFZp434D0127|FLJ14528 deubiquitinating enzyme 44|ubiquitin carboxyl-terminal hydrolase 44|ubiquitin specific protease 44|ubiquitin thioesterase 44|ubiquitin thiolesterase 44|ubiquitin-specific-processing protease 44 protein-coding 1322181 USP45 ubiquitin specific peptidase 45 1580863 15489334,14715245,14702039,14574404,12838346,12477932,15761153,19615732 85015 NM_001080481,AL137784,AL513550,CH471051,AJ583819,AK123299,AK310643,AL713747,AL832030,AL832037,AL832040,BC005991,BC150648,BC157838,CR593749,CR608058,CR614890,CR625622 NP_001073950,CAI19759,CAI19760,CAI19761,CAI17192,EAW48471,EAW48473,CAE47746,CAD89915,CAD91148,CAI46150,CAI46152,AAH05991,AAI50649,AAI57839,Q5JPK1,Q5JV78,Q70EL2,AAI56219,AAI72477 Hs.143410 MGC14793 OTTHUMP00000221080|OTTHUMP00000221081|deubiquitinating enzyme 45|ubiquitin carboxyl-terminal hydrolase 45|ubiquitin specific protease 45|ubiquitin thioesterase 45|ubiquitin thiolesterase 45|ubiquitin-specific-processing protease 45 protein-coding 1344409 USP46 ubiquitin specific peptidase 46 19260141,19075014,15489334,15342556,14715245,14702039,12838346,12477932,9110174,8619474,19615732,20111060 64854 NM_022832,NM_001134223,AC026448,CH471057,AF070557,AK021861,AK021912,AK022614,AK024318,AK024345,AK096712,AK296493,AK299883,AK302438,BC037574,BP371221,BU620990,CN483539 NP_073743,NP_001127695,EAX05434,EAX05435,BAB14133,BAB14881,BAH12373,BAH13161,BAH13709,AAH37574,P62068,ABM87763,ABW03598 Hs.7966 FLJ11850|FLJ12552|FLJ14283|FLJ39393 OTTHUMP00000218639|deubiquitinating enzyme 46|ubiquitin carboxyl-terminal hydrolase 46|ubiquitin specific protease 46|ubiquitin thioesterase 46|ubiquitin thiolesterase 46|ubiquitin-specific-processing protease 46 protein-coding 1321301 USP47 ubiquitin specific peptidase 47 1580863 16964243,15489334,15302935,14715245,14702039,12838346,12477932,9373149,8125298,14576168,14638676,19615732,19966869 55031 AC124276,NM_017944,AC104383,CH471064,AF059318,AK000734,AK027362,AK074076,AK092290,AK093714,AK127264,AK225358,AL832991,BC000226,BC017795,BC030562,BC047044,BC071559,BG752249,AK027283 Q9H3L7,AAI48588,Q96K76,NP_060414,EAW68542,EAW68543,EAW68544,AAG43115,BAA91348,BAB55063,BAB84902,BAG52521,BAG54467,CAH56337,AAH00226,AAH17795,AAH47044,Q68D97 Hs.577256 DKFZp686C13257|FLJ20727|TRFP Trf (TATA binding protein-related factor)-proximal homolog|deubiquitinating enzyme 47|ubiquitin carboxyl-terminal hydrolase 47|ubiquitin specific protease 47|ubiquitin thioesterase 47|ubiquitin thiolesterase 47|ubiquitin-specific-processing protease 47 protein-coding 1351270 USP48 ubiquitin specific peptidase 48 This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 17081983,16710414,16214042,15489334,15354349,15342556,14715245,14702039,12838346,12477932,9409543,18029348,19615732 84196 NM_032236,NM_001032730,AL359815,AL590103,CH471134,AF502942,AI248244,AK000110,AK002190,AK021830,AK026707,AK074247,AK226150,AK315005,AL834375,BC011576,BC013567,BC067261,BC103724,BC104896,BC143343,BC143349,BC143354,BM462540,BP238468,BQ027743,CA436959,CR619608,BC007326 NP_115612,NP_001027902,CAI16256,CAI16260,CAI12124,CAI12127,EAW94987,EAW94988,EAW94989,EAW94990,EAW94991,EAW94992,AAP30832,BAA90950,BAA92128,BAB15533,CAD39038,AAH13567,AAH67261,AAI03725,AAI04897,AAI43344,AAI43350,AAI43355,Q86UV5,AAH07326 Hs.467524 DKFZp762M1713|MGC132556|MGC14879|RAP1GA1|USP31 deubiquitinating enzyme 48|ubiquitin carboxyl-terminal hydrolase 48|ubiquitin specific protease 31|ubiquitin specific protease 48|ubiquitin thioesterase 48|ubiquitin thiolesterase 48|ubiquitin-specific-processing protease 48 protein-coding 1601875 USP49 ubiquitin specific peptidase 49 15489334,14715245,14576168,12584197,12477932,19615732,20139978 25862 NM_018561,AL160163,AL365205,CH471081,AJ586139,BC014176 NP_061031,CAI13186,CAI13187,CAI13188,EAX04065,CAE51939,AAH14176,Q5T3E1,Q70CQ1 Hs.665742 MGC20741 OTTHUMP00000016386|OTTHUMP00000016387|OTTHUMP00000196413|deubiquitinating enzyme 49|ubiquitin carboxyl-terminal hydrolase 49|ubiquitin specific protease 49|ubiquitin thioesterase 49|ubiquitin thiolesterase 49|ubiquitin-specific-processing protease 49 protein-coding 1318206 USP5 ubiquitin specific peptidase 5 (isopeptidase T) 1580863 7851534,7498549,7578059,16189514,18029348,9827704,19098288,16964243,16564012,15489334,15231748,15146197,14718574,12838346,12477932,12435595,12427038,11771738,11337467,9074930,8723724,17148452,17980597,18482987,19615732 8078 NM_001098536,NM_003481,CH471116,U47924,AI289395,AK308021,AU099996,BC004889,BC005139,CN276110,CR598459,CR620906,CR621700,U35116,U47927,X91349 NP_001092006,NP_003472,EAW88724,EAW88725,EAW88726,EAW88727,AAB51314,AAB51315,AAH04889,AAH05139,AAA78934,AAC50465,CAA62690,P45974,ABM83956,ABM87273 Hs.631661 ISOT deubiquitinating enzyme 5|isopeptidase T|ubiquitin carboxyl-terminal hydrolase 5|ubiquitin isopeptidase T|ubiquitin specific protease 5 (isopeptidase T)|ubiquitin specific protease 5 (isopeptidase t)|ubiquitin thioesterase 5|ubiquitin thiolesterase 5|ubiquitin-specific protease-5 (ubiquitin isopeptidase T)|ubiquitin-specific-processing protease 5 protein-coding 1343119 USP50 ubiquitin specific peptidase 50 19615732,15060002,14715245,12838346,20379614 373509 AC012170,CH471082,AJ583818,BN000339,DB448810,DB451236,DB513975,NM_203494 NP_987090,EAW77403,CAE47745,CAE48395,Q70EL3,AAI40416,AAI46494 Hs.677758 inactive ubiquitin carboxyl-terminal hydrolase 50|inactive ubiquitin-specific peptidase 50|ubiquitin specific protease 50 protein-coding 1603172 USP51 ubiquitin specific peptidase 51 18029348,15772651,15489334,15060002,15028280,14715245,12838346,12477932,10737800 158880 NM_201286,AL590410,AJ583823,BC035907,BN000340,BU101641,AI934832,BC131541,NG_021371 NP_958443,CAE47750,AAH35907,CAE48396,Q70EK9,AAI72281 Hs.40061,Hs.607524 OTTHUMP00000217965|deubiquitinating enzyme 51|ubiquitin carboxyl-terminal hydrolase 51|ubiquitin thioesterase 51|ubiquitin thiolesterase 51|ubiquitin-specific-processing protease 51 protein-coding 1315332 USP53 ubiquitin specific peptidase 53 1334457 15851553,15489334,14702039,12477932,10718198,16189514,14715245,16344560,20936779,19615732,20332099 1334457 54532 AC092656,CH471229,AB037771,AF085848,AJ583824,AK022799,AK025233,AK025301,BC017382,BC062741,BQ019723,BX648339,CD721951,CR749490,NM_019050,DA859085,DA886370 NP_061923,EAW73664,BAA92588,CAE47751,BAB14249,AAH17382,CAH18315,Q70EK8,Q9H9I0,AAI48590 Hs.431081,Hs.595368 DKFZp781E1417 inactive ubiquitin carboxyl-terminal hydrolase 53|inactive ubiquitin-specific peptidase 53|ubiquitin specific protease 53|ubiquitin specific proteinase 53 protein-coding 1343407 USP54 ubiquitin specific peptidase 54 1334457 16713569,15164054,15146197,14715245,14702039,12477932,16385451 1334457 159195 NM_152586,AL359074,CH471083,AJ583820,AK094637,AK123711,AK126497,AK127213,AK127267,AK303633,AL832102,BC026037,BC064967,BC110845,BC130633,BX649087,CN288586,AK302598 NP_689799,CAO03506,EAW54502,EAW54503,EAW54504,CAE47747,BAC04393,BAG53943,BAC86566,BAC86886,BAC86907,BAG64641,AAH64967,AAI30634,Q6ZSX9,Q70EL1,BAH13757 Hs.657355 C10orf29|FLJ37318|bA137L10.3|bA137L10.4 OTTHUMP00000196457|inactive ubiquitin carboxyl-terminal hydrolase 54|inactive ubiquitin-specific peptidase 54|ubiquitin specific protease 54|ubiquitin specific proteinase 54 protein-coding 1346560 USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene) 1580863 9827704,1565468,16555005,19077034,18265974,17701273,16127172,16099424,15735689,15509780,15509545,15026324,14521938,12838346,12612085,12604796,12477932,8471161,8406013,8247125,1349106,20418905,16713569,19615732 9098 AY163314,X63596,X71370,AB449915,AY143550,BC029495,BX647719,X63546,X63547,AC012146,NM_004505 NP_004496,AAO21348,CAB94196,BAH16658,AAN38838,CAA45108,CAA45109,CAA45110,CAA45111,P35125,Q15635,Q1K9C9,Q5EXX1,Q6U210,Q9UDD3 Hs.448851 HRP1|TRE17|TRE2|Tre-2|USP6-short deubiquitinating enzyme 6|hyperpolymorphic gene 1|proto-oncogene TRE-2|tre-2 oncogene|ubiquitin carboxyl-terminal hydrolase 6|ubiquitin specific peptidase 6-|ubiquitin specific protease 6 (Tre-2 oncogene)|ubiquitin thioesterase 6|ubiquitin thiolesterase 6|ubiquitin-specific protease USP6|ubiquitin-specific-processing protease 6 protein-coding 1323420 USP6NL USP6 N-terminal like 1580863 19077034,17371873,17081983,16381901,15489336,15489334,15152255,15144186,12477932,11099046,11076863,8889548,8700527,8700515,7584028,7584026,12399475,20379614 9712 NM_014688,NM_001080491,AL512631,AL590416,CH471072,AB449916,AK292944,BC010351,BC042943,CF121539,D13644,DB457665 NP_055503,NP_001073960,CAH70484,CAI16966,EAW86344,BAH16659,BAF85633,AAH10351,AAH42943,BAA02807,Q5VV10,Q92738,Q96FW8,CAL37548,CAL37976,CAL38244,CAL38532 Hs.498661 KIAA0019|RNTRE|TRE2NL OTTHUMP00000019080|RN-tre|USP6 N-terminal-like protein|related to the N terminus of tre|related to the N-terminus of tre protein-coding 1315800 USP7 ubiquitin specific peptidase 7 (herpes virus-associated) 1580863,2316155 20562859,15749019,16111684,16943424,16964248,17380154,17525743,17936559,19470478,19615732,19834552,20153724,20379614,9827704,12093161,11923872,19124652,18952891,18833293,18716620,18590780,18566590,18418047,18410486,17927229,17651432,17442268,16845383,16713569,16474402,16402859,16160161,15942648,15916963,15808506,15494000,15302935,15247261,15058298,15053880,14676191,14506283,12838346,12507430,11279055,9925944,9130697,9034339,17353931,20855462,20601937,20713061,20800574 2316155 7874 NM_003470,AC022167,CH471112,AK302481,AK302771,AK302872,AK302912,AK316441,AY376241,CR614819,Z72499,HC309806 NP_003461,EAW85194,EAW85195,BAH13721,BAH13801,BAH13828,BAH13841,BAH14812,AAQ82908,CAA96580,Q6U8A4,Q93009,AAI66690,CBJ21210 Hs.386939 HAUSP|TEF1 Herpes virus-associated ubiquitin-specific protease|deubiquitinating enzyme 7|herpesvirus-associated ubiquitin-specific protease|ubiquitin carboxyl-terminal hydrolase 7|ubiquitin specific protease 7 (herpes virus-associated)|ubiquitin thioesterase 7|ubiquitin-specific-processing protease 7 protein-coding 1312730 USP8 ubiquitin specific peptidase 8 1580863 20876529,12176364,12773374,15324660,17210635,17720156,19615732,19684015,9827704,17353931,17711858,9628861,18029348,17121848,17035239,16771824,16520378,16341674,15489334,15342353,15314180,14702039,12477932,11500497,10982817,9582025,8889548,7584044,18329369,14661020,15778465,12838346,13129930,16120644 9101 NM_001128611,NM_001128610,NM_005154,AC012170,CH471082,AA399951,AA773713,AK091775,AK292400,AK296480,AK300590,BC015545,BC026954,BC038801,BC051345,BC062694,BC092443,BC110590,BM751645,BX537420,CA312140,D29956 NP_001122083,NP_005145,EAW77399,EAW77400,EAW77401,EAW77402,BAG52415,BAF85089,BAG59120,BAG62288,AAH15545,AAH26954,AAH38801,AAH51345,AAI10591,CAD97662,BAA06225,P40818,Q05DF5,NP_001122082,Q05CD9 Hs.443731 FLJ34456|HumORF8|KIAA0055|MGC129718|UBPY deubiquitinating enzyme 8|hUBPy|ubiquitin carboxyl-terminal hydrolase 8|ubiquitin isopeptidase Y|ubiquitin specific protease 8|ubiquitin thioesterase 8|ubiquitin thiolesterase 8|ubiquitin-specific-processing protease 8 protein-coding 1350484 USP8P ubiquitin specific protease 8 pseudogene 19851445 394216,100287272 AL662833,AL671883,AL845443,BX248310,BX927178,CR759828,NG_002397 D84394.7|USP8P pseudo 1606030 USP9X ubiquitin specific peptidase 9, X-linked This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 15607950,19508998,20023629,19135894,9827704,16322459,8922996,18410486,18254724,17353931,17081983,17038327,16964243,16344560,16306228,15772651,15592455,15203218,14743216,14742711,12617843,12477932,10737800,9110174,8619474,10620020,9722616,19913121,20628086 8239 NM_001039590,NM_001039591,NG_012547,AC006121,AL109797,AL391259,CH471141,AA261797,AB209666,AF070645,AJ012078,AW183065,BC014792,BC046205,BC054861,BC063645,BE925861,BX956755,CD619095,CR606277,CR614660,DA854185,X98296 AAI72429,NP_001034679,NP_001034680,CAD18900,CAD13527,EAW59406,EAW59407,EAW59408,EAW59409,EAW59410,EAW59411,EAW59412,BAD92903,AAC25395,AAH46205,AAH63645,CAA66942,Q59EZ5,Q6P468,Q86X58,Q93008 Hs.77578 DFFRX|FAF|FAM Drosophila fat facets related, X-linked|OTTHUMP00000023142|deubiquitinating enzyme FAF-X|fat facets in mammals|fat facets protein related, X-linked|fat facets protein-related, X-linked|hFAM|probable ubiquitin carboxyl-terminal hydrolase FAF-X|ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)|ubiquitin thioesterase FAF-X|ubiquitin thiolesterase FAF-X|ubiquitin-specific processing protease FAF-X|ubiquitin-specific protease 9, X chromosome|ubiquitin-specific-processing protease FAF-X protein-coding 1342718 USP9Y ubiquitin specific peptidase 9, Y-linked This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq] 1580863 17148452,17412880,1723470,8922996,9384609,19246359,18511697,18357961,18205040,16893908,15696490,14983005,14702039,12925892,12895410,11869379,10767340,10581029,9847074,9827704,9381176,18075781,17877719,17624343,18445645,12508125,17682003,17762975,16674553,16572913,17968468,18062861,12085107,12900510,18001726,12650910,18752188,18440997,17609244,15287977,15498781,12031043,14718045,14967370,12871878,12767260,16580382,18807255,18579508 8287 NM_004654,NG_008311,AC002531,CH471155,AF000986,AK057605,BI754571,CK823170,DQ151535,Y13618,Y13619 NP_004645,EAW91607,EAW91608,AAC51833,ABA28747,CAA73940,CAA73941,O00507,AAI56545 Hs.598540 DFFRY|FLJ33043 deubiquitinating enzyme FAF-Y|fat facets protein related, Y-linked|fat facets protein-related, Y-linked|fat facets-like homolog|probable ubiquitin carboxyl-terminal hydrolase FAF-Y|ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)|ubiquitin specific protease 9, y-linked (fat facets-like, drosophila)|ubiquitin thioesterase FAF-Y|ubiquitin thiolesterase FAF-Y|ubiquitin-specific processing protease FAF-Y|ubiquitin-specific protease 9, Y chromosome|ubiquitin-specific-processing protease FAF-Y protein-coding 1603480 USP9YP1 USP9Y pseudogene 1 12815422,9847074 387362 NG_004636,AC022486 pseudo 4109231 USP9YP10 ubiquitin specific peptidase 9, Y-linked pseudogene 10 9847074 100421222 AC007379,NG_004636 pseudo 4108559 USP9YP11 ubiquitin specific peptidase 9, Y-linked pseudogene 11 100421224 NG_004755,AC073893 pseudo 4143663 USP9YP19 ubiquitin specific peptidase 9, Y-linked pseudogene 19 100500797 AC010682,NG_027712 pseudo 1603479 USP9YP2 USP9Y pseudogene 2 12815422,9847074 387363 NG_004636,AC007379 pseudo 4143662 USP9YP23 ubiquitin specific peptidase 9, Y-linked pseudogene 23 9847074 100500798 AC007742,NG_027715 pseudo 3051402 USP9YP3 ubiquitin specific peptidase 9, Y-linked pseudogene 3 12815422 387364 AC021107,NG_004832 pseudo 3051404 USP9YP4 ubiquitin specific peptidase 9, Y-linked pseudogene 4 12815422 387359 AC009952,NG_003168 pseudo 2946873 USP9YP5 ubiquitin specific peptidase 9, Y-linked pseudogene 5 100421217 NG_004636,AC068541 pseudo 3051023 USP9YP6 ubiquitin specific peptidase 9, Y-linked pseudogene 6 100462820 NG_004636,AC009976 pseudo 4109290 USP9YP7 ubiquitin specific peptidase 9, Y-linked pseudogene 7 9847074 100462821 AC009976,NG_004636 pseudo 2946872 USP9YP8 ubiquitin specific peptidase 9, Y-linked pseudogene 8 100421219 AC021107,NG_021921 pseudo 2946871 USP9YP9 ubiquitin specific peptidase 9, Y-linked pseudogene 9 100421220 AC010682,NG_021931 pseudo 1321964 USPL1 ubiquitin specific peptidase like 1 14702039,12477932,19615732 10208 NM_005800,AL138681,CH471075,AK057514,AK289826,AL832776,BC012594,BC036027,BC038103,BI752017,CR627370,X59131 NP_005791,CAH70264,EAX08466,BAG51926,BAF82515,AAH36027,AAH38103,CAH10469,CAA41848,Q5W0Q7 Hs.533831 C13orf22|D13S106E|DKFZp781K2286|FLJ32952|RP11-121O19.1|bA121O19.1 highly charged protein|ubiquitin-specific peptidase-like protein 1 protein-coding 1312363 UST uronyl-2-sulfotransferase Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM] 1580863 10187838,19240061,17227754,16192264,15489334,14574404,12477932,20360315,20379614 10090 NM_005715,AL357992,AL359252,AL589705,AL590485,AL807246,CH471051,AB020316,AI570697,AJ420554,AK292922,AK315320,BC093668,BC093694,CA842761,DB496757 NP_005706,CAH70147,CAI17058,CAH74028,EAW47812,BAA77510,BAF85611,BAG37723,AAH93668,AAH93694,Q9Y2C2,CAH70738 Hs.657370 2OST dermatan/chondroitin sulfate 2-sulfotransferase|uronyl 2-sulfotransferase protein-coding 1346918 UTF1 undifferentiated embryonic cell transcription factor 1 1580863 9748258,18281244,15164054,11467843,9524124,16582099,18983962,20218897,20855642 8433 NM_003577,AL445199,CH471211,AB011076,AY606112 NP_003568,CAI17342,EAW61322,BAA33463,AAT38949,Q5T230,AAI66624 Hs.458406 undifferentiated embryonic cell transcription factor 1 protein-coding 731994 UTP11L UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 12559088,17081983,16710414,15635413,15489334,14702039,12477932,11860508,11790298,10810093,7829101 51118 NM_016037,AL603790,CH471059,AF067802,AF151852,AK023587,AK291900,AK296018,AK308377,BC005182,BI493106,BU620078,BU940926,CX163866 NP_057121,CAH69932,EAX07299,EAX07300,AAF75562,AAD34089,BAF84589,BAG58788,AAH05182,Q9Y3A2 Hs.472038,Hs.637686 CGI-94|CGI94 U3 snoRNA-associated protein 11|UTP11-like protein|comparative gene identification transcript 94|probable U3 small nucleolar RNA-associated protein 11 protein-coding 1347961 UTP14A UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 1580863 15383276,17081983,16565220,16189514,16169070,15772651,15489334,15289605,12477932,12429849,9610721,14702039,15342556,16354793 10813 NM_006649,AL034405,CH471107,AK291918,AK298578,AK304563,BC001149,BC009649,BC014987,AK094408,BP353997,BQ017502,BU942896,NM_001166221 NP_006640,CAI42908,CAI42909,EAX11820,BAF84607,BAG60770,BAG65355,AAH01149,AAH09649,AAH14987,O60531,Q9BVJ6,ABM83475,ABM86686,NP_001159693 Hs.458598 FLJ37089|KIAA0266|NY-CO-16|NYCO16|SDCCAG16|dJ537K23.3 U3 small nucleolar RNA-associated protein 14 homolog A|antigen NY-CO-16|serologically defined colon cancer antigen 16 protein-coding 1344153 UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 16354793,15489334,15289605,15057823,12477932,9039502,8889549 9724 NM_021645,AL139082,CH471075,AI076921,BC089407,BC122536,D87455,N71815 NP_067677,CAI12891,EAX08899,EAX08900,EAX08901,EAX08902,EAX08903,AAH89407,AAI22537,BAA13396,Q08E77,Q5TAP6,ACE87290,ACE86609 Hs.512963 2700066J21Rik|KIAA0266|MGC104971|UTP14B U3 small nucleolar RNA-associated protein 14 homolog C protein-coding 1604578 UTP15 UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 11256614,16381901,15489336,15489334,14702039,12477932,12429849,11230166,11076863 84135 NM_032175,AC010279,CH471084,AK022849,AK074217,AL831972,BC013064,BX094101,CR457295,CR597969,AK300525,AK302021 NP_115551,EAW95731,BAB14271,BAB85020,AAH13064,CAG33576,Q8TED0,CAL37615,CAL38422,BAG62237,BAG63420 Hs.406703 FLJ12787|NET21 OTTHUMP00000222041|OTTHUMP00000222042|Src-associated protein SAW|U3 small nucleolar RNA-associated protein 15 homolog protein-coding 1349005 UTP18 UTP18, small subunit (SSU) processome component, homolog (yeast) 15199122,15590835,17081983,16964243,15489334,15302935,12477932,12429849,8619474,10810093,9110174,19615732 51096 NM_016001,AC006141,CH471109,AF151806,AK026355,AK314399,AY007138,BC001535,BC025276,BG723023,BM548967,CR618262 NP_057085,EAW94559,AAD34043,BAG37023,AAG01999,AAH25276,Q9Y5J1 Hs.709327 CGI-48|WDR50 U3 small nucleolar RNA-associated protein 18 homolog|WD repeat domain 50|WD repeat-containing protein 50|wd repeat domain 50 protein-coding 1607048 UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) 16053918,16458307,15656982,15635413,15302935,14503924,12837249,12429849,11790298,7566098,9673349,15590835,17498821,16565220,12150911,17652137,17903303 27340 AC063948,AC063951,CH471054,AA306482,AF072718,AJ006778,AK000333,AK297739,AK307934,BX957203,CR616735,NM_014503 NP_055318,EAW97652,EAW97653,EAW97654,EAW97655,EAW97656,AAG35208,CAA07243,BAG60089,O75691 Hs.295732 DRIM NNP73|down regulated in metastasis|down-regulated in metastasis protein|novel nucleolar protein 73|small subunit processome component 20 homolog protein-coding 1601941 UTP23 UTP23, small subunit (SSU) processome component, homolog (yeast) 16769905,15342556,14702039,12477932 84294 NM_032334,AC087350,AP002905,CH471060,AK055279,AK315770,BC005955,BC022441,BP231814,CR625411 NP_115710,EAW91960,EAW91961,EAW91962,BAB70896,BAG38122,AAH05955,AAH22441,Q9BRU9 Hs.86970 C8orf53|MGC14595 rRNA-processing protein UTP23 homolog protein-coding 1603977 UTP3 UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 11256614,17081983,17015728,16565220,16381901,16344560,16169070,15635413,15489336,15489334,14702039,12477932,11790298,11230166,11076863 57050 AC009570,NM_020368,CH471057,CS300532,AF271212,AK026909,AL136590,BC004546,CR533544,CR607462,DB021011 NP_065101,EAX05627,CAK32196,AAF91408,BAB15588,CAB66525,AAH04546,CAG38575,Q9NQZ2,CAL37740,CAL37950,CAL38107,ABM83925,ABW03551 Hs.322901 CRL1|CRLZ1|FLJ23256|SAS10 UTP3 homolog|charged amino acid rich leucine zipper 1 homolog|charged amino acid-rich leucine zipper 1|disrupter of silencing 10|disrupter of silencing SAS10|something about silencing protein 10 protein-coding 1603639 UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast) 17632510,17380155,16189514,16138909,15635413,15489334,14702039,12477932,12429849,12097419,10843809,9373149,8125298,19299467 55813 NM_018428,AC004253,AC129917,CH471147,AF116631,AF244135,AF334386,AJ272197,AK057202,AK126564,AK225448,BC015454,BC035325,CR607732,CR625726,AK299806,AK315929 NP_060898,EAW80259,AAF71054,AAF66244,AAO15382,CAB77268,BAG51883,BAG54344,AAH15454,AAH35325,Q9NYH9,Q9P1J8,BAG61681,BAH14300 Hs.589862 C17orf40|HCA66 U3 small nucleolar RNA-associated protein 6 homolog|hepatocellular carcinoma associated antigen 66|hepatocellular carcinoma-associated antigen 66|multiple hat domains protein protein-coding 731341 UTRN utrophin This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq] 2300329,737706,1580863 16936636,19615732,19786618,19945424,20347265,20379614,16777071,9288751,8977119,1426262,18945675,17507653,17081983,16710609,16598790,16595608,16344560,16295426,16198105,16049973,15231748,15146197,14702039,12633873,12619170,12499352,12370193,12054535,12034776,12006649,11997063,11875058,11861579,11796130,11430802,11377836,11178104,10995443,10769203,10767429,10737800,10647184,10545507,10369873,9887274,9701558,8889548,8576247,8281135,7890770,7844150,7589238,2541343,2203673,2014247,1461283,1400579,20625423,18029348,20434517,20562859 2300329,737706 7402 AL513475,AL590488,AL590704,CH471051,AK023675,AK292506,BE817979,BM729107,BX100445,BX472896,CA449403,CN360586,DB079517,X15488,X69086,NM_007124,AL024474,AL357149,AL513184 ACX32321,CAI40506,CAI40507,CAI13032,CAI13033,CAI13034,CAI16497,CAI10894,CAI10895,CAI10897,EAW47845,EAW47846,EAW47847,EAW47848,BAF85195,CAA33515,CAA48829,P46939,Q5T097,Q6LBS5,NP_009055,CAI23353,CAI23354,CAI40388,CAI40389,CAI40390,CAI40391,CAI40392,CAI40393,CAI40502,CAI40503,CAI40504,CAI40505 Hs.133135 DMDL|DRP|DRP1|FLJ23678 DRP-1|dystrophin-related protein 1|utrophin protein-coding 737599 UTS2 urotensin 2 This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq] 1580806,1580807,1580808,1580809,2306814,2306785,2306799,2306786,2306795,2306802,2306803,2306806,2306807,2306832,2306846,2306848,2306796,2306804,2306805,2306836,1580863 17045018,20653105,18505448,19326266,19362580,19578796,19797715,20339975,19398874,19056482,19001524,18440535,18314227,18284603,18086953,18067077,17822806,17686550,17327028,17143557,16866021,16807543,16783414,16710414,16597476,16508659,16343502,16172428,15891007,15866083,15618545,15476949,15379892,10499587,15340161,15306183,15201550,15007012,12975309,12905622,12830381,12791592,12509909,12477932,12468107,12381671,12297490,12203418,12088848,11725162,11344221,10581185,9861051,9279525,16754659,20017703,20428787,18577758,20965108,20695946 1580806,1580807,1580808,1580809,2306814,2306785,2306799,2306786,2306795,2306802,2306803,2306806,2306807,2306832,2306846,2306848,2306796,2306804,2306805,2306836 10911 NM_021995,NM_006786,CH471130,Z98884,AF104118,AF140630,AY358375,BC025776,BC126443,BC171734,GN344139,GN344141 NP_068835,NP_006777,EAW71587,EAW71588,EAW71589,CAB63148,CAI21438,AAD13070,AAD55577,AAQ88741,AAI26444,A0AVP6,O95399,CAY56005,CAY56006 Hs.715862 PRO1068|U-II|UCN2|UII OTTHUMP00000001356|urotensin II|urotensin-2 protein-coding 1603529 UTS2D urotensin 2 domain containing 18000598,17919235,17327028,16940699,16344560,14702039,14550283,12477932,21116278,16754659 257313 NM_198152,AC068645,AC126567,CH471052,AB116021,AK090630,AY321313,BC112166,DB068521 NP_937795,EAW78091,EAW78092,EAW78093,EAW78094,BAC98929,BAG52200,AAQ83883,AAI12167,Q765I0 Hs.518492 MGC138371|U2B|URP OTTHUMP00000209354|U-IIB|UIIB|urotensin II-related peptide|urotensin IIB|urotensin-2 domain-containing protein|urotensin-2B protein-coding 1342744 UTS2R urotensin 2 receptor 633970,1580807,1580812,2306785,2306796,2306786,2306833,2306846,2306805,2306836,2306839,2306847,1580863 10499587,19001524,18423797,18409194,17905478,17686550,17617581,17595527,17537987,16597476,15752584,15476949,15306183,14753294,14550283,11015293,10828617,10581185,9861051,8666380,16754659,20428787,20479331,12477932,19111831,20870804,19788716 633970,1580807,1580812,2306785,2306796,2306786,2306833,2306846,2306805,2306836,2306839 2837 NM_018949,AC132938,AF140631,CH471099,BC136490 NP_061822,AAD55578,EAW89768,AAI36491,Q9UKP6 Hs.192720 GPR14|UR-2-R|UTR|UTR2 G protein-coupled receptor 14|G-protein coupled receptor 14|UR-II-R|urotensin II receptor|urotensin-2 receptor protein-coding 1342500 UTY ubiquitously transcribed tetratricopeptide repeat gene, Y-linked This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. This protein is a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1580863 18029348,18511697,15758204,14660691,12815422,12665801,12477932,11049993,10861003,10767340,10679124,9854018,9499428,9381176,8944031 7404 NM_007125,NM_182659,NM_182660,AC005820,AC006376,AC010877,AF132076,AF265575,AY591407,CH471155,AF000994,AF000995,AF000996,AK292858,AK308952,BC012581,BC029389,BC051718,BC071744,CR595226,CR936684,AY682463,AY769062,AY769063,AY769064,AY769065,AY769066,AY769067,AY934848,AY934849,AY934851,AY934854,AY934855,AY934856,AY934857,DQ012094,DQ140388,DQ140389,DQ140390,DQ341385,DQ341386,DQ345543,DQ345544,DQ350457,DQ350459,AY730613,AY769061,AY769068,AY769069,AY934850,AY934852,AY934853,DQ341387,DQ345542,DQ350456,DQ350458 NP_009056,NP_872600,NP_872601,AAF36521,AAF77052,AAT86083,EAW91613,AAC51841,AAC51842,AAC51843,BAF85547,AAH51718,AAH71744,O14607,Q590G7,Q6IPS8,Q86UB8,Q9NR08,Q9P108,AAI40392,AAU87837,AAX07232,AAX07233,AAX07234,AAX07235,AAX07236,AAX07237,AAY16579,AAY16580,AAY16582,AAY16585,AAY16586,AAY16587,AAY16588,AAY68207,ABA25869,ABA25870,ABA25871,ABC73374,ABC73376,ABC75708,ABC75709,ABC87284,ABC87285,AAU93524,AAX07231,AAX07238,AAX07239,AAY16581,AAY16583,AAY16584,ABC73373,ABC73375,ABC75707,ABC87286 Hs.115277 DKFZp686L12190|UTY1 histone demethylase UTY|tetratricopeptide repeat protein|ubiquitous TPR motif protein UTY|ubiquitously transcribed TPR gene on Y chromosome|ubiquitously transcribed TPR protein on the Y chromosome|ubiquitously transcribed Y chromosome tetratricopeptide repeat protein|ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 101|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 106|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 11|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 118|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 121|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 132|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 133|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 136|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 14|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 15|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 16|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 167|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 20|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 228|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 238|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 24|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 252|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 256|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 26|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 264|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 27|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 29|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 47|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 53|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 56|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 64|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 67|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 68|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 75|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 77|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 88|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 89|ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 90|ubiquitously-transcribed TPR protein on the Y chromosome|ubiquitously-transcribed Y chromosome tetratricopeptide repeat protein protein-coding 1317170 UVRAG UV radiation resistance associated gene This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq] 1580863,4889529 19270696,20163458,20379614,20562859,9169138,18843052,18641390,18552835,18495205,17106237,16799551,16344560,14737099,14702039,12477932,10798355,9533029,9373149,8125298,2332174,12928850,20643123 4889529 7405 NM_003369,AP002340,AP003031,AP003168,CH471076,X99050,AB012958,AK095352,AK222772,AK291011,AK293782,AK296871,AK311341,AK316133,BC013176,BC064837,CR608114,DB087351 NP_003360,EAW74986,EAW74987,CAA67507,BAA90829,BAG53033,BAD96492,BAF83700,BAG57197,BAG59434,BAH14504,AAH64837,Q53H09,Q6P1X0,Q9P2Y5 Hs.202470 DHTX|VPS38|p63 UV radiation resistance-associated gene protein|beclin 1 binding protein|disrupted in heterotaxy protein-coding 735996 UXS1 UDP-glucuronate decarboxylase 1 UDP-glucuronate decarboxylase (UGD; EC 4.1.1.35) catalyzes the formation of UDP-xylose from UDP-glucuronate. UDP-xylose is then used to initiate glycosaminoglycan biosynthesis on the core protein of proteoglycans.[supplied by OMIM] 19027726,16303743,15815621,15489334,14702039,12975309,12477932,12391314,11877387,9373149,8125298,19913121,20628086,19028698,20379614,20877624 80146 NM_025076,AC018878,CH471127,CQ783167,AI217133,AK027244,AK056022,AK075120,AK075170,AK122696,AK225592,AK290668,AK304872,AL834439,AY147934,AY358541,BC009819,BI550591,BI825770,BM472113,BX366726,CF242897,CR592836 Q8ND26,ABM84178,ABM87580,NP_079352,AAY15085,EAX01747,EAX01748,EAX01749,EAX01750,CAF86373,BAB15705,BAC11415,BAC11448,BAG53673,BAF83357,BAG65609,CAD39099,AAN39844,AAQ88905,AAH09819,Q8NBZ7 Hs.469561 FLJ23591|SDR6E1|UGD UDP-glucuronic acid decarboxylase 1|UXS-1|short chain dehydrogenase/reductase family 6E, member 12 protein-coding 1347196 UXT ubiquitously-expressed transcript This gene encodes a novel protein which is highly conserved in mouse. It interacts with the N-terminus of the androgen receptor and plays a role in facilitating receptor-induced transcriptional activation. It is also likely to be involved in tumorigenesis as it is abundantly expressed in tumor tissues. This gene is part of a gene cluster on chromosome Xp11.23. Alternative splicing results in 2 transcript variants encoding different isoforms. [provided by RefSeq] 1580863 12762840,16221885,17761951,17635584,17620405,17554592,15772651,15489334,15231747,14711828,12477932,11944989,11854421,11827465,11042152,10087202,9373149,8125298,14645504,11799066,14615539,15264020,17643375,19450687 8409 NM_153477,NM_004182,AL009172,CH471164,CQ834162,CQ834164,AF083241,AF083242,AF092737,AK223320,AK312072,BC000720,BC008890 NP_705582,NP_004173,CAI42447,CAI42448,CAI42449,EAW59324,EAW59325,EAW59326,CAH05296,CAH05297,AAD39839,AAD39840,AAD28698,BAG35008,AAH00720,AAH08890,Q9UBK9 Hs.172791 ART-27|STAP1 SKP2-associated alpha PFD 1|androgen receptor trapped clone 27 protein|protein UXT|ubiquitously expressed transcript protein protein-coding 1347283 VAC14 Vac14 homolog (S. cerevisiae) Phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) is a low-abundance signaling molecule. A regulatory complex made up of VAC14 and FIG4 (MIM 609390) control synthesis of PI(3,5)P2 by activating PI(3)P kinase, FAB1 (PIP5K3; MIM 609414). The VAC14/FIG4 complex also functions in the breakdown of PI(3,5)P2 (Zhang et al., 2007 [PubMed 17956977]).[supplied by OMIM] 634487 17353931,8611628,18950639,17956977,17556371,17161399,16767081,15542851,14702039,12719380,12477932,20630877,19037259,19840946,20379614 634487 55697 NM_018052,AC020763,AC027281,CH471241,AK001167,AK025479,AK056433,AK090627,AK093941,AK128439,AK297564,AK307766,AK310466,AL137396,BC000536,BC007214,BC110072,BC110852,BC125108,BC125109,CR457343,U25801 NP_060522,EAW51791,EAW51792,EAW51793,EAW51794,EAW51795,BAA91530,BAB15145,BAG51707,BAC03492,BAG52790,BAG59956,CAB70724,AAH00536,AAH07214,AAI25109,AAI25110,CAG33624,AAB03813,Q08AM6,Q9NTB8,Q9NW56 Hs.445061 ArPIKfyve|FLJ10305|FLJ36622|FLJ46582|MGC149815|MGC149816|TAX1BP2|TRX Tax1 (human T-cell leukemia virus type I) binding protein 1|Tax1 (human T-cell leukemia virus type I) binding protein 2|protein VAC14 homolog|tax1-binding protein 2 protein-coding 736120 VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. VAMP1 is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Multiple alternative splice variants that encode proteins with alternative carboxy ends have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq] 1580863 9920726,1976629,17903296,12878157,12477932,12093152,10544008,9658161,9657962,9396746,8760387,8663154,20877624,18457912,16341674 6843 NM_199245,NM_014231,NM_016830,AC005840,CH471116,M36196,M36197,M36198,M36199,M36200,AF060538,AK289498,AK296294,AK303137,AK309184,AU279974,BC023286,BE246448,BF338798,BF341451,BI838752,BM837373,BQ717992,CB215628,CR542214,CR542231,CR749485,R83084,Z48924 NP_954740,NP_055046,NP_058439,EAW88792,EAW88793,EAW88794,EAW88795,EAW88796,AAA60603,AAC28336,BAF82187,BAG58997,BAG64241,AAH23286,CAG47010,CAG47027,CAH18312,CAA88760,P23763 Hs.20021 DKFZp686H12131|SYB1|VAMP-1 synaptobrevin 1|synaptobrevin-1|vesicle-associated membrane protein 1 protein-coding 735448 VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq] 2302393,2302397,2311087,2312656 12750892,17207965,10100611,10036234,9817754,9658161,9657962,9373149,9341137,9030619,8999968,8973549,8770861,8760387,8125298,8011337,7961655,7835332,7499863,12130530,7622514,12828989,10820264,10194441,10449403,7553862,11524423,9396746,9920726,1976629,18628682,18512733,18511418,18511417,18182011,17356306,17331077,17313651,17196367,17001002,16195891,15327778,14702039,12853575,12847087,12773094,12517971,12485399,12477932,12417022,12200427,12181340,12093152,11842301,11832227,11786915,11295657,11278762,11101518,10965122,10932255,10713150,10662545,10370136,10336434,15610015,20471030,12832401,11031247,11252894,11994746,19478182,19557857,19822142,20416077,8071310 2302393,2302397,2311087,2312656 6844 NM_014232,AC129492,AF135372,CH471108,M36201,M36202,M36203,M36204,M36205,AJ225044,AK021522,AK225777,AK289555,AL050223,BC002737,BC019608,BC033870,BU625107 ADQ33174,NP_055047,AAF15551,EAW90086,EAW90087,AAA60604,CAA12385,BAF82244,CAH10733,AAH02737,AAH19608,AAH33870,P63027,Q69Z01 Hs.25348 FLJ11460|SYB2|VAMP-2 synaptobrevin 2|synaptobrevin-2|vesicle associated membrane protein 2|vesicle-associated membrane protein 2 protein-coding 736779 VAMP3 vesicle-associated membrane protein 3 (cellubrevin) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq] 1580863 9885218,19159614,18628682,16710414,16354670,15525538,15489334,12828989,12665801,12477932,12130530,11839770,11809765,11786915,11278762,11101518,10820264,9817754,9701566,9614185,9396746,8973549,12556468,16189514,16169070,15610015,19061864,19910495,20098747,18195106,21102463,19478182,19781582,20416077 9341 NM_004781,CH471130,Z98884,AK316558,BC003570,BC005941,BC007050,BT007327,CR542145,CR542154,CR592566,CR608048,U64520 NP_004772,EAW71582,CAB63146,BAG38147,AAH03570,AAH05941,AAP35991,CAG46942,CAG46951,AAB05814,Q15836,Q6FGG2,Q9BRV4,AAH07050 Hs.66708 CEB VAMP-3|cellubrevin|synaptobrevin-3|vesicle-associated membrane protein 3 protein-coding 1320258 VAMP4 vesicle-associated membrane protein 4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq] 16189514,15345747,16344560,9553086,17081983,15896658,15489334,14702039,14608369,12682051,12477932,11839770,11598115,10839363,10359608,9110174,8619474 8674 DB167275,NM_001185127,NR_033704,NM_003762,CH471067,Z98751,AF044310,AF052100,AK056124,AK123624,AK290441,AL035296,BC005974,BC007019,BC031264,CR457011 NP_001172056,NP_003753,EAW90904,EAW90905,EAW90906,EAW90907,EAW90908,EAW90909,CAI21808,AAC24032,BAF83130,CAA22896,AAH05974,AAH07019,AAH31264,CAG33292,O75379,Q6IAZ3,CAM28272 Hs.6651 VAMP-4|VAMP24 OTTHUMP00000190888|vesicle-associated membrane protein 4 protein-coding 1350486 VAMP5 vesicle-associated membrane protein 5 (myobrevin) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq] 1580863 9725904,16110299,15489334,12682051,12477932,11042152 10791 NM_006634,AC016753,CH471053,AF054825,AF077197,AF151025,AK292660,BC017891,CR542215 NP_006625,AAY24342,EAW99508,AAC97473,AAD26992,AAF36111,BAF85349,AAH17891,CAG47011,O95183,Q6FG93,ABM82898,ABM86088 Hs.534373 VAMP-5|myobrevin|vesicle-associated membrane protein 5 protein-coding 1350434 VAMP7 vesicle-associated membrane protein 7 1580863 6495485,18042464,16430921,16381901,16195891,15610015,15489336,15489334,15470500,14672948,12853575,12477932,12444103,12175335,11840509,11786915,11440841,11278762,11101518,11076863,10655549,10564831,9614185,9373149,8640232,8125298,18253931,16354670,14993220,16495485,10888671,15133481,10459012,19138172,18819912,18775314,18571410,18362137,11031247,11252894,19745841,19781582,20144992,20378544 6845 NM_005638,NM_001145149,AJ271736,CH471247,AI042181,AJ295938,AJ549301,AK222794,AK312658,BC056141,CR604175,CR609740,DC341378,X92396,AI522002,AK293525,AK295605,AK297385,NG_021435,NM_001185183,NR_033714,NR_033715 NP_005629,NP_001138621,CAB96816,EAW55877,EAW55878,EAW55879,EAW55880,EAW55881,EAW55882,EAW55883,CAC16891,CAD70593,BAD96514,BAG35541,AAH56141,CAA63133,P51809,CAL38010,BAG57007,BAG58491,BAG59826,NP_001172112 Hs.24167 FLJ53045|FLJ53762|FLJ54296|SYBL1|TI-VAMP|TIVAMP|VAMP-7 synaptobrevin-like 1|synaptobrevin-like protein 1|tetanus neurotoxin-insensitive VAMP|tetanus-insensitive VAMP|vesicle-associated membrane protein 7 protein-coding 1347649 VAMP8 vesicle-associated membrane protein 8 (endobrevin) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. It is associated with the perinuclear vesicular structures of the early endocytic compartment. It has been found that VAMP8 interacts specifically with the soluble NSF-attachment protein (alpha-SNAP), most likely through an VAMP8-containing SNARE complex. [provided by RefSeq] 9614193,19282863,19023099,18570918,18253931,18073581,17975119,16690874,16195891,16110299,15815621,15489334,12828989,12477932,12130530,11786915,11278762,11112705,11101518,11839770,11029036,10820264,10601239,10336434,9878266,8889548,19913121,20089838,20628086,11031247,11252894,11694590,19374688,19738360,19752551,19943878,20533276,9144278,20877624 8673 NM_003761,AC016753,CH471053,AF053233,BC001634,BM702226,BQ227618,BT006700,CD367710,CR456995,CR594380,BX092149,NG_022887 NP_003752,AAY24341,EAW99506,AAC08434,AAH01634,AAP35346,CAG33276,Q9BV40 Hs.714302 EDB|VAMP-8 OTTHUMP00000203083|vesicle-associated membrane protein 8 protein-coding 1319967 VANGL1 vang-like 1 (van gogh, Drosophila) 1580863 15205336,19319979,19166844,17409324,16410243,15952208,15489334,15456783,12477932,12011995,11956595,20562859,20944126,20043994 81839 BC065272,BC082967,BM552933,CR609810,AL450389,CH471122,CS185662,AB057596,AB075805,AF481859,AK312087,BC000907,BC032773,NM_138959,HH958077,BM146608,NG_016548,NM_001172411,NM_001172412 AAH32773,AAH65272,Q8TAA9,Q96J52,NP_620409,CAI23371,CAI23372,EAW56630,EAW56631,EAW56632,CAJ42843,BAB86334,BAB86362,AAO61751,BAG35023,AAH00907,CBX51302,NP_001165882,NP_001165883 Hs.515130 KITENIN|LPP2|MGC5338|STB2|STBM2 KAI1 C-terminal interacting tetraspanin|OTTHUMP00000013751|OTTHUMP00000013752|loop-tail protein 2 homolog|strabismus 2|van Gogh-like protein 1|vang-like protein 1 protein-coding 1319787 VANGL2 vang-like 2 (van gogh, Drosophila) The VANGL2 gene encodes a homolog of Drosophila 'strabismus/Van Gogh' (Stbm/Vang), a component of the frizzled-dishevelled tissue polarity pathway (Kibar et al., 2001 [PubMed 11431695]).[supplied by OMIM] 2293492,2298799,1580863 15195140,12490194,12477932,11431695,10574462,20223754,18849982,19577357,19734545,20558380,18034999,16710414,15489334 2293492,2298799 57216 NM_020335,AL445230,CH471121,AB033041,AK290981,AL137558,BC103920,BU162175,BX420618,BG059541,NG_023420 NP_065068,CAI15015,EAW52717,EAW52718,BAA86529,BAF83670,Q9ULK5,AAI66628 Hs.99477 KIAA1215|LPP1|LTAP|MGC119403|MGC119404|STB1|STBM|STBM1 loop-tail protein 1 homolog|loop-tail-associated protein|strabismus 1|van Gogh-like protein 2|vang, van gogh-like 2|vang-like protein 2 protein-coding 737415 VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 61779,1580863 18029348,16895911,9920726,16227268,12761501,9657962,10523508,19289470,18713837,18665321,15489334,15342556,15016871,14702039,12477932,11511104,12023275,15326295,10544080,16606821,20029029,18165232,19615732,19665998,20178991 61779 9218 NM_003574,NM_194434,AC006238,CH471113,AF044670,AF057358,AF086627,AF154847,AK024299,AK096868,AK123434,AK292948,AK315577,BC002992,BC033947,BC042860,BG488667,BG719406,BP209270,BT019618,CR592788,CR595148,CR607357,CR610939,CR615746,CR616989,CR624715,CR626025,CR626388 NP_003565,NP_919415,EAX01590,EAX01591,EAX01592,AAD09742,AAC26508,AAD13576,AAF72105,BAF85637,BAG37951,AAH02992,AAV38424,Q9P0L0 Hs.165195 MGC3745|VAP-33|VAP-A|VAP33|hVAP-33 33 kDa VAMP-associated protein|VAMP-A|VAMP-associated protein A|vesicle-associated membrane protein, associated protein a|vesicle-associated membrane protein-associated protein A protein-coding 68452 VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq] 61779,1580863 16895911,17215244,18029348,18165232,19515777,19615732,20008544,20207736,20227395,20377183,20472325,18701194,17540579,9920726,16227268,16891305,15372378,19165527,18713837,18677189,18555774,18322265,17947296,17804640,17536055,17081983,16729899,16571669,16565220,15545272,15489334,14702039,12975309,12665801,12477932,12130530,11780052,10931946,10820264,10657150,12651853,20477942,15060112,16344560,20577002,8889548,16606821,17207965,20940299,20447143 61779 9217 NM_004738,NG_008073,AL035455,CH471077,AB209665,AF086628,AF086629,AF160212,AK023241,AK024771,AK025720,AK123538,AK127252,AK128422,AK298036,AL833440,AY358464,BC001712,BT009811,AK124571,BM968517,DA450527,NM_001195677,NR_036633 NP_004729,CAC15021,CAM27023,EAW75493,EAW75494,EAW75495,BAD92902,AAD13577,AAD13578,AAF67013,BAG51174,BAG53909,BAC86901,BAC87433,BAG60336,AAQ88829,AAH01712,AAP88813,O95292,Q53XM7,Q59EZ6,Q6ZR82,Q6ZSP7,NP_001182606,ADQ31858 Hs.182625 ALS8|VAMP-B|VAMP-C|VAP-B|VAP-C VAMP-B/VAMP-C|VAMP-associated 33 kDa protein|VAMP-associated protein B|VAMP-associated protein B/C|VAMP-associated protein C|VAP-B/VAP-C|vesicle-associated membrane protein, associated protein b and c|vesicle-associated membrane protein-associated protein B/C protein-coding 735744 VARS valyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. 1580863 19615732,19851445,17353931,8428657,16229838,15779907,15489334,14656967,14574404,12477932,8666263,8294461,3169261,2556394,2477242,1898367,19913121,20628086,20562859 7407 AK300033,AK302762,BX248133,CR759787,CR759915,BC012808,CR612648,CR615665,CR622653,CX167000,CX781162,M98326,X59303,NM_006295,AF134726,AL662834,AL662899,AL671762,AL929592,BA000025,CH471081,CR925765 BAG61844,BAG63973,CAM24987,CAM25674,CAM26112,CAQ07252,CAQ07253,CAQ07254,CAQ10125,CAQ10126,CAQ10127,CAQ10622,CAM25660,AAH12808,AAA81332,CAA41990,P26640,Q5SP20,NP_006286,AAD21819,CAI17732,CAI18384,CAI18211,CAI18461,BAB63303,EAX03523,EAX03524,CAQ10624 Hs.520026 G7A|VARS1|VARS2 protein G7a|valRS|valine tRNA ligase 1, cytoplasmic|valine--tRNA ligase|valyl-tRNA synthetase|valyl-tRNA synthetase 2|valyl-trna synthetase 2 protein-coding 1343974 VARS1 valyl-tRNA synthetase 1 7406 1346332 VARS2 valyl-tRNA synthetase 2, mitochondrial (putative) 20877624,18400783,14702039,12477932,11572484,19851445,20041166,20503108 57176 AL662854,AL669830,AL773541,BX927194,CH471081,CR759747,CR936875,AB067472,AK000511,AK025618,NM_020442,AK026063,AK094483,AK125069,AK293780,AK294451,AK303415,AK304807,AK315733,AL122037,BC008844,BC009355,BC063427,BC073838,BC112054,BC113605,BC143534,BC143535,BC143536,AB209479,NM_001167733,NM_001167734 NP_065175,CAI17437,CAI18004,CAM25403,CAM25404,CAI18453,EAX03348,EAX03349,CAQ06764,BAB67778,BAB15191,BAB15344,BAG57195,BAG57688,BAG64468,BAG65557,BAG38088,CAB59177,AAH08844,AAH09355,AAH73838,AAI12055,AAI13606,AAI43537,Q5ST30,Q9H6B7,BAD92716,CAQ09775,NP_001161205,NP_001161206 Hs.597526 MGC138259|MGC142165|VARS2L|VARSL valRS|valine tRNA ligase 2, mitochondrial (putative)|valine--tRNA ligase|valyl-tRNA synthetase 2-like|valyl-tRNA synthetase like|valyl-tRNA synthetase, mitochondrial|valyl-tRNA synthetase-like protein-coding 1352548 VASH1 vasohibin 1 12477932,10737800,10470851,9110174,8619474,20133819,20736312,15467828,18029348,19498005,19179360,19057892,19037993,18325046,16707096,16488400,15649403,15489334,12508121,19204325,19587360,19682397,20035291,20167561 22846 NM_014909,AC007376,AF111169,CH471061,AB028959,AF055021,AK291377,AL041425,AL832588,BC009031,BC051896,BE674799,BF741850 NP_055724,AAF02829,AAD44361,EAW81259,EAW81260,BAA82988,BAF84066,CAD89941,AAH09031,AAH51896,Q7L8A9 Hs.525479 KIAA1036 vasohibin-1 protein-coding 1602689 VASH2 vasohibin 2 16710414,16528006,15489334,14702039,12477932,19204325 79805 NM_024749,AL592449,CH471100,AK022567,AK096605,AK290973,AK302675,AY834202,BC028194,BC051856,BC053836,DC350527,NM_001136474,NM_001136475 NP_079025,CAH71916,CAH71917,CAH71918,EAW93371,EAW93372,EAW93373,BAB14103,BAF83662,BAG63907,AAX39752,AAH28194,AAH51856,AAH53836,Q86V25,NP_001129946,NP_001129947 Hs.96885 FLJ12505|RP11-275G3.1 vasohibin-2|vasohibin-like protein protein-coding 1605593 VASN vasorin 16335952,15489334,15247411,12975309,12477932 114990 NM_138440,AC012676,CH471112,AY166584,AY358298,BC013767,BC068575,CR625381,AY358299 NP_612449,EAW85311,AAO27704,AAQ88665,AAQ88666,AAH13767,AAH68575,Q6EMK4 Hs.372579 SLITL2 protein slit-like 2|slit-like 2|vasorin protein-coding 1323055 VASP vasodilator-stimulated phosphoprotein Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq] 1580863 10892742,16055720,19435808,19690214,19798690,19825941,19885626,19902490,19943879,20044140,20110575,7828592,19463377,19115233,19081821,19059569,18923426,18845790,18832777,18813837,18680720,18569864,18559661,18278200,18217157,18064332,18029348,17938817,17914456,17684063,17488353,17351763,17167837,17082196,16531412,16336193,16197368,16189514,16046415,15939738,15642358,15634270,15592455,15569942,15489334,15469846,15469845,15178555,15158464,14706852,14592989,14557252,12805219,12695497,12665801,12652017,12576312,12571287,12566781,12492113,12477932,12397215,12372613,12220179,12087107,11756574,11598004,11313394,14679200,11093254,10990454,10922374,10882740,10851246,10801818,10747096,10637295,10438535,10087267,8812448,8182057,7925440,7737110,7644520,1319722,1318192,14506234,20589315,21041447 7408 NM_003370,AC006117,CH471126,X98534,AK314812,AL556269,BC026019,BC038224,BG751094,BG825983,CR615417,Z46389 NP_003361,EAW57362,EAW57363,EAW57364,EAW57365,CAA67147,BAG37336,AAH26019,AAH38224,CAA86523,P50552 Hs.515469 vasodilator-stimulated phosphoprotein protein-coding 1319007 VAT1 vesicle amine transport protein 1 homolog (T. californica) Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq] 1580863 20858461,7545954,8938427,15489334,14702039,12477932,8076819,7987831,7774926,7581362,19508442,19615732 10493 NM_006373,AC055866,AC135721,CH471152,L78833,AK000237,AK097072,AK290460,AK315838,BC001913,BC008725,BC014279,BC015041,BC068489,BC090858,BT007369,CR594124,CR613076,CR618877,CR620205,CR622345,U18009,U25779,AK298536 ADR82767,NP_006364,EAW60917,EAW60918,AAC37596,BAG53420,BAF83149,BAF98729,AAH01913,AAH08725,AAH14279,AAH15041,AAH90858,AAP36033,AAA95990,AAA93230,Q16464,Q99536,BAG60736 Hs.514199 FLJ20230|VATI membrane protein of cholinergic synaptic vesicles|synaptic vesicle membrane protein VAT-1 homolog|vesicle amine transport protein 1 homolog (t californica) protein-coding 1605968 VAT1L vesicle amine transport protein 1 homolog (T. californica)-like 20889312,15489334,14702039,12477932,10997877,19844255,17207965 57687 NM_020927,AC010650,AC092134,CH471114,AB046796,AK001256,AK290153,AL834240,BC033537 NP_065978,EAW95594,BAB13402,BAF82842,CAD38917,AAH33537,Q8NDE0,Q9HCJ6,ADQ31788 Hs.461405 KIAA1576 synaptic vesicle membrane protein VAT-1 homolog-like|vesicle amine transport protein 1 homolog-like (T. californica) protein-coding 737234 VAV1 vav 1 guanine nucleotide exchange factor The protein encoded by this proto-oncogene is a member of the Dbl family of guanine nucleotide exchange factors (GEF) for the Rho family of GTP binding proteins. The protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. This particular GEF has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. [provided by RefSeq] 2303708,2306005,2306008,1580863 11756498,12376548,12787561,12920122,15688026,16461343,16467851,17306257,19597340,19747912,19880579,20011522,20028078,20141838,20189481,20237496,9032261,10394361,2477241,18029348,19207108,19018007,18974050,18589439,18295596,18160398,18160397,17716865,17590270,17550897,17275330,17237383,17060455,17050525,17015707,16728400,16397238,16339550,16289966,15878332,15872091,15850391,15817684,15699036,15696170,15652748,15618472,15618286,15592455,15558030,15546961,15345594,15182247,14757747,14709332,12917349,12885870,12884293,12881521,12616499,12496381,12477932,12400014,12393632,12386169,12376551,12234921,12084069,12055221,11859076,11857085,11839310,11790798,11716957,11390470,11368773,11331248,11287617,9697839,9489702,9438848,9400828,9399639,9373149,9341187,9201297,9200440,9162069,9115846,9047237,9013873,8986718,8900182,8649418,8632004,8622875,8621483,8570203,8554611,8530437,8524317,8432525,8125298,8051112,7862126,7809090,7798261,7768923,7651724,7535775,7530656,7528218,7478592,2069873,2005887,1565462,1375396,9269777,16454711,16356860,16091223,14597672,12734410,11463741,11525746,8703037,12186560,11328862,10981967,12755701,15882624,14673152,11133830,10938113,10867021,10790433,10780782,10760587,10748082,10725744,10713703,10673353,10669745,10669724,10664460,10662792,10620604,10207103,10022833,9891995,9822663,19913121,20628086,20155735,20562827 2303708,2306005,2306008 7409 NM_005428,AC010647,AC020895,AC020954,AC022156,AF030201,AF030202,AF030203,AF030204,AF030205,AF030206,AF030207,AF030208,AF030209,AF030210,AF030211,AF030212,AF030213,AF030214,AF030215,AF030216,AF030217,AF030218,AF030219,AF030220,AF030221,AF030222,AF030223,AF030224,AF030225,AF030226,AF030227,AF216848,AF216849,AF216850,AF216851,CH471139,M59834,AK225710,AK301128,AK313307,BC013361,X16316,X83931 NP_005419,AAC25011,EAW69057,EAW69058,AAA63267,BAG62721,BAG36112,AAH13361,CAA34383,CAA58783,P15498,Q96D37 Hs.116237 VAV oncogene vav|proto-oncogene vav|vav 1 oncogene|vav proto-oncogene protein-coding 1314818 VAV2 vav 2 guanine nucleotide exchange factor VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 11756498,12376548,12376551,12787561,15848800,16397238,18654987,19451809,19826000,19911011,20140013,20463313,9438848,8986718,20808760,20298788,15618286,18829495,17686471,17234718,16381901,15850391,15489336,15479739,15345594,14702039,12810717,12477932,12454019,11909943,11606575,11516622,11448999,11390470,11313921,11262396,11080163,11076863,10982832,10938113,10618391,10022833,9115846,7762982,9269777,12577067,8621483,20598377,20140222 7410 AY563001,BC033187,BC043615,BC128448,BC132965,BC132967,BQ050947,BQ071939,BX640754,S76992,AK130575,NM_003371,NM_001134398,AL357934,AL445931,AL590710,CH471090,AJ420448,AK091622,AK123314,AK124271 AAS75591,AAH33187,AAI32966,AAI32968,CAE45861,AAB34377,P52735,CAL37891,CAL38383,NP_003362,NP_001127870,CAI15781,CAI15782,CAI15783,CAI13722,CAI13723,CAI13724,CAI12278,CAI12279,CAI12280,EAW88107,EAW88108,EAW88109,BAC85822 Hs.369921,Hs.689325 OTTHUMP00000022508|Protein vav-2|VAV-2|guanine nucleotide exchange factor VAV2|oncogene VAV2|vav 2 oncogene protein-coding 1343957 VAV3 vav 3 guanine nucleotide exchange factor This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 19913121,20628086,20140222,10523675,18518979,19429868,19008376,18079321,16762975,16384856,15708849,15456756,14757747,14702039,12477932,12400014,11805146,11094073,10713454,9705494,8622875,9269777,12577067,10938113,20126983,11756498,12376548,12787561,19546854,19911011,20379614,20463313,17875758,20936779 10451 NM_006113,NM_001079874,AC114491,AL353892,AL391235,AL513206,AL591042,CH471156,AF035442,AF067817,AF118886,AF118887,AI304566,AK097750,AK295166,AK296537,AK300474,AK304088,AK316295,BC143969,CR611410,DR002311 NP_006104,NP_001073343,CAI21786,CAH72458,CAH73195,CAH73196,CAI14457,CAI14458,EAW51251,EAW51252,AAD03799,AAC79695,AAD20348,AAD20349,BAG58178,BAH12381,BAG62191,BAG64994,BAH14666,AAI43970,O60498,Q9UKW4,AAI46366,AAI56727 Hs.267659 FLJ40431 VAV-3|guanine nucleotide exchange factor VAV3|vav 3 oncogene protein-coding 1351722 VAX1 ventral anterior homeobox 1 This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 17963489,15489334,15164054,14702039,12477932,10485894,9636075,8889548,20023658 11023 NM_199131,NM_001112704,AL731557,CH471066,AK127095,BC101694,BC101696,NG_012317 NP_954582,NP_001106175,CAI14824,CAI14825,EAW49432,EAW49433,BAC86826,AAI01695,AAI01697,Q5SQQ9,ABZ92468 Hs.441536 MGC126743|MGC126745 ventral anterior homeobox 1 protein-coding 731657 VAX2 ventral anterior homeobox 2 This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq] 724805,1580863 10485894,17963489,16953426,15489334,12477932,19913121,20628086 724805 25806 NM_012476,AC007040,CH471053,BC006336,BT007035,Y17791 NP_036608,EAW99792,AAH06336,AAP35683,CAB56166,Q9UIW0 Hs.249170 DRES93 ventral anterior homeobox 2 protein-coding 1352433 VBP1 von Hippel-Lindau binding protein 1 The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. Because it functions as a chaperone protein, it is suspected that it may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. [provided by RefSeq] 19615732,9630229,18029348,8674032,17698809,16344560,15772651,15489334,14634002,12613020,12591739,12579260,12477932,10441001,9931330,9339366,15063765,15572213,14729622,12169691 7411 NG_013269,NG_005114,AL356738,CH471172,AA781721,AK301646,AK313420,BC009570,BC040002,BC046094,BG575380,BT019604,CR541932,CR595254,CR596441,CR600706,CR604493,CR608323,CR609299,CR611663,CR612569,CR616139,CR616685,CR618821,CR623613,CR624898,NM_003372,CR625553,DA610631,U56833,U96759,Y17394 NP_003363,CAI41469,EAW72627,EAW72628,EAW72629,EAW72630,BAG63125,BAG36212,AAH46094,AAV38411,CAG46730,AAC50617,AAC23907,CAA76761,P61758,Q6FH24 Hs.436803 PFD3|PFDN3|VBP-1 HIBBJ46|VHL binding protein-1|VHL-binding protein 1|prefoldin 3|prefoldin subunit 3|von Hippel-Lindau-binding protein 1 protein-coding 730988 VCAM1 vascular cell adhesion molecule 1 This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq] 1580349,1580350,1580351,1580352,2312764,2312766,2313108,2298843,2313112,2312761,2312760,2312763,2313107,2312762,2306988,2313109,2313110,737738,2312765,2325163,2325162 19249917,16809613,18834676,18930765,19134480,19170196,19242838,19342863,19422386,19423540,19540498,19604093,19625176,19692168,19717975,19729601,19773279,19812370,19887846,19948975,20039412,20056178,20112284,20164172,20197690,20217071,20233927,20237496,20360250,20406964,20416077,20438785,20503287,20508517,16127297,1377228,12082081,1715889,2688898,1381355,9290466,19597294,19573080,19559392,19554506,19542447,19520742,19479237,19417018,19407978,19407977,19391499,19353432,19281832,19258923,19247692,19237221,19229069,19225544,19210349,19208843,19136619,19131662,19074885,19057841,19028820,19022587,19021457,19002703,18974842,18828734,18813849,18791689,18787184,18787016,18778820,18761738,18707907,18692491,18676870,18676680,18666029,18656701,18636124,18633131,18628303,18618671,18613029,18600396,18597403,18582564,18574676,18564921,18554449,18504269,18490752,18482273,18473733,18462748,18449421,18421029,18420209,18406566,18383329,18326231,18284603,18227515,18212564,18197885,18078450,17983593,17964973,17963163,17962718,21030716,20430730,20219985,17943642,17922685,17906965,17891599,17714716,17706953,17706337,17703412,17702963,17678915,17657162,17616653,17599409,17597073,17586618,17564956,17560459,17531998,17530710,17521609,17517105,17497038,17437524,17431880,17430469,17352405,17334226,17303384,17292586,17258924,17255534,17192354,17167725,17142773,17126824,17116732,17115186,17090406,17022986,17008592,16987074,16977262,16914554,16902065,16790997,16722038,16644735,16585601,16498082,16344560,16335952,16327982,16317091,16242117,16230423,16184405,15116247,15080580,15059493,15009098,14984317,14762656,14748068,14741380,14684616,14615367,14592496,14550782,14534081,12969778,12958610,12940514,12871600,12788528,12759453,12714597,12704784,12700137,12682249,12673844,12650924,12643440,12601490,12587980,12493764,12477932,12433638,12393616,12387879,12351381,12193695,12172576,12172318,12115600,12105209,12097820,12086338,12006387,11983205,11963839,11961404,11935152,11929779,11922919,11904449,11882338,11847011,11817523,11776680,11520773,11123288,10944555,10623819,10602408,10556825,10477700,10438935,10377075,10209034,9973426,9792375,9603478,9443894,9373149,9269771,9184636,9117345,8977311,8825878,8607877,8125298,7884872,7691867,15225366,15175347,7545397,7539925,7534402,7531291,7521694,1715583,1713772,1707873,1707234,1699207,1379595,1281211,14691297,11517385,15805138,15194470,15078922,16015337,16002075,15979542,15845907,15806475,15784173,15710215,15666579,15661918,15661077,15548573,15525877,15489375,15489374,15489334,15340161,15308572,15304054,15299708,15265790,18846968,19913121,20485444,20536507,20602615,20603037,20628086,20405289,20482449,20966071,20184510,20568250,20851866,21037509 1580349,1580350,1580351,1580352,2312764,2312766,2313108,2298843,2313112,2312761,2312760,2312763,2313107,2312762,2306988,2313109,2313110,737738,2312765,2325163,2325162 7412 AL592446,NG_023034,NM_001078,NM_080682,AC093428,AF536818,CH471097,M73255,M92431,S50587,AK223266,AK291732,AK296692,AU121762,BC017276,BC068490,BC085003,CR603251,CR617596,CR749464,M30257,M60335,X53051,BF968655,DB096825,NM_001199834,BF791565 NP_001069,NP_542413,AAM96190,EAW72949,EAW72950,AAA61270,BAD96986,BAF84421,BAG59286,AAH17276,AAH68490,AAH85003,CAH18296,AAA51917,AAA61269,CAA37218,P19320,Q53FL7,Q68DC4,ACE87430,ACE86744,NP_001186763 Hs.109225 CD106|DKFZp779G2333|INCAM-100|MGC99561 CD106 antigen|OTTHUMP00000012652|vascular cell adhesion protein 1 protein-coding 1349729 VCAN versican This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1598495,1598496,1598497,1580863 2583089,19506372,19269971,19160015,19073385,18819099,18704747,18484070,17728259,17453002,17363913,17213182,17097211,17065588,16917090,16877430,16839865,16648628,16636652,16493581,16431924,16344560,16311904,16110303,16043844,15871917,15748997,15712181,15599946,15590670,15522894,15342556,15336555,15146197,15142969,15073129,14724283,14558097,12972299,12907688,12888576,12553048,12477932,12438652,12221092,11932252,11839575,11805102,11726670,11566024,11278559,11083865,11038354,10950950,10571340,10400671,10397680,10198161,9848887,9294172,8824283,8627343,8601689,7921538,7876137,7806529,7748141,7566098,7528742,2820964,2469524,2466833,1478664,1429726,19717812,20619446,20673868,20489207,18431253,18621549,19655167,19662655,19669783,19700613,19901218,20053631,20201926,20204274,20379614,20452482,20516156 1598495,1598496,1598497 1462 U26555,X15998,NM_001126336,NM_001164097,NM_001164098,NG_012682,AC016568,AC020921,AC026696,CH471084,S52488,AA320958,AA426499,AA478645,AB209491,AF084545,AK296285,AK299770,AK307642,BC050524,BP332680,BX641036,CN312093,D32039,DA361670,DB497892,DT217515,J02814,U16306,NM_004385 AAA67565,CAA34128,P13611,Q59FG9,Q6MZK8,Q86W61,AAI72276,NP_004376,NP_001119808,NP_001157569,NP_001157570,EAW95904,EAW95905,EAW95906,EAW95907,EAW95908,EAW95909,EAW95910,EAW95911,AAB24878,BAD92728,AAD48545,BAH12302,BAH13124,AAH50524,CAE46022,BAA06801,AAA36437,AAA65018 Hs.643801,Hs.715773 CSPG2|DKFZp686K06110|ERVR|GHAP|PG-M|WGN|WGN1 OTTHUMP00000222355|chondroitin sulfate proteoglycan 2|chondroitin sulfate proteoglycan 2 (versican)|chondroitin sulfate proteoglycan core protein 2|glial hyaluronate-binding protein|large fibroblast proteoglycan|versican core protein|versican proteoglycan protein-coding 1353825 VCF velocardiofacial syndrome 1360769 7413 1322560 VCL vinculin Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 1580863,1580356 14627618,14630798,15163412,15231748,16385451,17082770,18341635,19883375,20474083,6457647,9415431,20086044,7816144,9700171,15501673,16130169,15494027,2116004,19422016,19148538,19052772,18554503,18513529,18353764,18056416,18028034,17932491,17709988,17591693,17088427,17081983,16949038,16826238,16712796,16608855,16407302,16236538,16189514,16097034,15988023,15883197,15728584,15547664,15489334,15229287,15164054,15070891,14702644,12719976,12665801,12477932,12473693,11741957,11724819,11693560,11577104,11541859,11409571,11358843,11113628,10908164,10882740,10545505,10521485,10320340,10224093,10085297,9885244,9054445,8994410,8612698,8610074,8609175,8440716,8276759,7994488,7682697,7566098,7534286,7525621,2503380,1505973,1339348,14597672,10330411,8922390,9858471,16169070,9405455,9535896,19913121,20502710,20628086,20634891 1580356 7414 NM_014000,NM_003373,NG_008868,AL596247,AL731576,CH471083,L04933,S87180,S87223,AA368699,AI290052,AK126978,AK296509,AK300280,AK304823,AL700886,AL708715,AL832130,BC013847,BC039174,BX537994,CR612677,M33308 NP_054706,NP_003364,CAI13972,CAI39669,CAI39673,EAW54547,EAW54548,EAW54549,EAW54550,EAW54551,AAA61271,AAB21656,AAB21657,BAG54414,BAG59141,BAG62039,BAG65571,AAH39174,CAD97952,AAA61283,P18206,Q5JQ13,ABM85606 Hs.643896 CMD1W|CMH15|MVCL OTTHUMP00000019862|metavinculin|vinculin protein-coding 731621 VCP valosin-containing protein The protein encoded by this gene is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent protein degradation. [provided by RefSeq] 1599735,1580863 20410307,11483959,12663780,15037256,15189447,16275660,17141156,17220478,18550891,18656546,19356220,19506019,19615732,19704082,19818707,19822669,19828315,20008565,20057067,20097236,20100830,20116073,20126661,20427671,20508983,9321476,21145000,20512113,15215856,15362974,10855792,16130169,16140914,18029348,19364651,19286132,19275885,19237541,19208399,19174149,19164805,18775313,18706391,18544453,18341608,18279508,18199748,18166610,18048502,17935506,17907600,17889967,17872946,17763460,17681147,17626287,17622780,17618707,17493577,17457594,17368566,17346713,17272822,17200190,16966435,16914519,16807242,16783167,16621797,16551632,16525503,16449189,16386250,16344560,16289116,16247064,16236267,16234241,16212419,16186510,16186509,15952740,15932873,15883021,15752563,15743842,15732117,15592455,15588985,15456787,15452376,15331598,15034582,14760088,12944474,12810701,12807884,12665801,12560433,12529442,12509440,12504083,12477932,12473691,12351637,11927012,11913976,11689694,11252708,11087817,10931946,10364224,9506515,9452483,9286697,8595912,8413590,7553851,1602151,18835813,18586029,18675248,17525332,17353931,20628086,19913121,20104022,16168377,16513638,20876349,20335036,20414249,15723043,20702414 1599735 7415 AK312310,AL137377,BC007562,BC012195,BC017171,BC096751,BC110913,BC121794,BC122550,CR606334,DA880782,DB524539,Z70768,AK307735,NM_007126,NG_007887,AC004472,AL353795,CH471071,CQ871270,AF100752,AF313485,AF313486,AI343015 BAG35235,CAB70717,AAH07562,AAI10914,AAI21795,AAI22551,CAA94809,P55072,Q0IIN5,Q96IF9,Q9HAP0,Q9HAP1,Q9NTC4,NP_009057,AAC07984,CAH70993,EAW58403,EAW58404,CAH56816,AAD43016,AAG29873,AAG29874 Hs.529782 IBMPFD|MGC131997|MGC148092|MGC8560|TERA|p97 15S Mg(2+)-ATPase p97 subunit|TER ATPase|transitional endoplasmic reticulum ATPase|valosin-containing protein|yeast Cdc48p homolog protein-coding 1604797 VCPIP1 valosin containing protein (p97)/p47 complex interacting protein 1 12509440,12477932,12473691,11347906,11230166,11076863,9373149,8889548,8125298,11256614,16381901,15489336,15489334,15302935,15037600,14702039,19615732 80124 NM_025054,AC090154,CH471068,AB058753,AK026785,AK225580,AK297345,AL832606,AL834476,BC012498,BC049379,BC062426,BC094799,BC118917,BM980302,CR593204,CR936659 NP_079330,EAW86916,BAB47479,BAB15552,BAG59796,CAD89944,CAD39135,AAH49379,AAH94799,Q96JH7,CAL37527,CAL38641 Hs.632066 DKFZp686G038|DUBA3|FLJ23132|FLJ60694|KIAA1850|VCIP135 deubiquitinating protein VCIP135|valosin-containing protein (p97)/p47 complex-interacting protein p135|valosin-containing protein p97/p47 complex-interacting protein 1|valosin-containing protein p97/p47 complex-interacting protein p135 protein-coding 1343537 VCX variable charge, X-linked This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq] 1580863 12862317,17342728,12826317,12477932,10903929,10607842 26609 NM_013452,AC005296,AF159129,AF167081,BC098123,BC126903 NP_038480,AAF28174,AAG41767,AAH98123,AAI26904,Q4V774,Q9H320 Hs.567503 MGC118975|VCX-10r|VCX-B1|VCX1|VCX10R|VCXB1 variable charge X-linked protein 1|variable charge protein on X with ten repeats|variable charge, X chromosome|variably charged protein X-B1 protein-coding 1350692 VCX2 variable charge, X-linked 2 This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 2 repeats of the 30-bp unit. [provided by RefSeq] 15489334,12477932,11337467,10903929,10607842 51480 NM_016378,AC097626,AF159127,AF167079,AI015625,AU099954,BC096715,BC098101,BC098113,BC098163,BC104153,BC104167,BC104168,BC134350 NP_057462,AAF28172,AAG41765,AAH96715,AAH98101,AAH98113,AAH98163,AAI04154,AAI04168,AAI04169,AAI34351,Q3SXQ9,Q3SXR9,Q4V780,Q9H322 Hs.279737 MGC118977|MGC125729|MGC125794|MGC125795|VCX-2r|VCX2R|VCXB VCX-B|variable charge X-linked protein 2|variable charge protein on X with two repeats|variably charged X-B|variably charged protein X-B protein-coding 1345932 VCX3A variable charge, X-linked 3A This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq] 19812318,10903929,18076704,17157254,16381901,15489336,12477932,11076863,10607842,1549475 51481 NM_016379,NG_011539,AC108684,AJ243947,CH471074,AF159128,AF167078,BC039722,BC098149,BC104154,BC126902 NP_057463,CAB56197,EAW98750,AAF28173,AAG41764,AAH98149,AAI04155,AAI26903,Q3SXR8,Q4V756,Q9NNX9,CAL38296 Hs.721285,Hs.170076 MGC118976|MGC125730|MGC125796|VCX-8r|VCX-A|VCX3|VCX8R|VCXA variable charge X-linked protein 3|variable charge protein on X with eight repeats|variably charged X-A|variably charged protein X-A protein-coding 1603458 VCX3B variable charge, X-linked 3B This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 11 repeats of the 30-bp unit. [provided by RefSeq] 12477932,10903929,12862317,15008409,15888481,16470742,17342728,18076704,19812318,19734545 425054 NM_001001888,AC006062,CH471074,AF167080,BC098143,AA883225 NP_001001888,EAW98743,AAG41766,AAH98143,Q9H321 Hs.534814,Hs.279737 MGC119815|VCX-C|VCXC variable charge X-linked protein 3B|variably charged X-C|variably charged protein X-C|variably charged x-c protein-coding 1345952 VCY variable charge, Y-linked The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq] 15489334,12815422,12477932,10607842,9847074,9381176 9084 NM_004679,NG_004442,AC006370,AC018677,AF000979,AI149997,BC096729 NP_004670,AAF03503,AAC51827,AAH96729,O14598,Q4KN35 Hs.632284 BPY1|MGC119817|VCY1|VCY1A|VCY1B basic charge, Y-linked 1|basic protein on Y chromosome, 1|testis-specific basic protein Y 1|testis-specific basic protein on Y, 1|variable charge, Y chromosome|variably charged protein Y protein-coding 1346903 VCY1B variable charge, Y-linked 1B The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq] 15489334,12815422,12477932,10607842,9847074,9381176,17207965 353513 NM_181880,NG_004442,AC006370,AC018677,BC056508 NP_870996,AAH56508,O14598,ADQ32113 Hs.170076 BPY1|BPY1B|VCY|VCY1 basic charge, Y-linked 1|basic protein on Y chromosome, 1|testis-specific basic protein Y 1|testis-specific basic protein on Y, 1|variably charged protein Y protein-coding 732557 VDAC1 voltage-dependent anion channel 1 1580863 18690523,19094960,19595769,19668262,19669810,19717555,20098416,20117113,20132430,20192921,20230784,20237496,20347420,17353931,8420959,18063578,9843949,19049977,18832158,18755977,18607100,18568384,18381814,18362892,18308720,18250166,17828567,17336328,17254575,17209561,17081983,16585511,16565220,16236267,16201016,16185087,15952740,15644312,15637055,15635413,15630200,15592455,15489334,15372022,15302935,15033708,14702039,12767928,12736244,12698369,12663490,12477932,12243190,12118373,12087096,12009301,11845315,11602586,11181702,11091140,11039896,10978502,10772903,10737788,10661876,10639121,10620603,10501981,10365962,10049775,9874241,9644232,9119086,7685903,7539795,7525559,7517385,2559745,1657034,1602151,1373486,12079506,14647451,14573604,10922061,20434446,18614564,20937774,20846459,16344560,20435015,20877624 7416 AC005200,AC008608,AC025177,AF151097,AJ250032,CH471062,AK095989,AK122953,AK293639,BC008482,BC071168,BC090042,CR595129,CR595756,CR596809,CR596905,CR598077,CR603026,CR605140,CR606302,CR607580,CR607667,NM_003374,CR612086,CR612480,CR612783,CR616336,CR617397,CR619959,CR621984,CR623138,CR623923,CR624238,L06132,CR611832,NG_027817,CR591764,CR606935,CR617135,DA072915,DB475162,NR_036624,NR_036625 NP_003365,AAC24723,AAD54939,CAB58127,EAW62281,EAW62282,EAW62283,EAW62284,EAW62285,EAW62286,BAG53187,BAG53816,BAG57094,AAH08482,AAH71168,AAH90042,AAA61272,P21796,ABM84109,ABM87491 Hs.519320,Hs.709372 MGC111064|PORIN|PORIN-31-HL|VDAC-1 VDAC-1|hVDAC1|outer mitochondrial membrane protein porin 1|plasmalemmal porin|porin 31HL|porin 31HM|voltage-dependent anion-selective channel protein 1 protein-coding 1347327 VDAC1LP voltage-dependent anion channel 1-like pseudogene 10049775,7517385 10064 NG_001223,AC142496,AC142497,AJ012218 VDAC1LP pseudo 1343029 VDAC1P voltage-dependent anion channel 1 pseudogene 10415331,10049775,8420959,7517385 642585 AL359755,NG_001224,AF107839 VDAC1P pseudo 2793636 VDAC1P10 voltage-dependent anion channel 1 pseudogene 10 643536 AL450990,NG_013293 pseudo 2799525 VDAC1P11 voltage-dependent anion channel 1 pseudogene 11 100310841 AL691447,NG_013294 pseudo 3398736 VDAC1P3 voltage-dependent anion channel 1 pseudogene 3 7517385,8420959 100310838 AC004478,AJ002428,NG_013287 pseudo 2923822 VDAC1P6 voltage-dependent anion channel 1 pseudogene 6 12815422,9847074 359800 AC010685,NG_002825 pseudo 3398735 VDAC1P7 voltage-dependent anion channel 1 pseudogene 7 100310839 AC131005,NG_013290 pseudo 3398734 VDAC1P8 voltage-dependent anion channel 1 pseudogene 8 100310840 AL031320,NG_013291 pseudo 2794720 VDAC1P9 voltage-dependent anion channel 1 pseudogene 9 391106 AL356276,NG_013292 pseudo 731822 VDAC2 voltage-dependent anion channel 2 1580863 16344560,16385451,17553172,17828567,19013129,20138821,8889548,17353931,8420959,18063578,18278581,17081983,15952740,15757910,15635413,15489334,15164054,14739283,12881569,12477932,11197169,10501981,10049775,9615439,7685033,7539795,7517385,15047060,18614564,20562859,20877624 7417 BE545584,BU171142,CF122447,CR593363,CR609899,DA608755,NM_001184783,NM_001184823,NR_033675,CR621927,CR626160,CR626355,CR626773,L06328,L08666,AF152227,AL390034,AL392111,CH471083,AK296635,AK315919,BC000165,BC012883,BC072407,CR456964,NM_003375,CR599041,CR600576,CR600753,CR601332,CR602116,CR604235,CR608755,CR609406,CR611161,CR612173,CR613503,CR617245,CR617818 NP_001171712,NP_001171752,AAB59457,AAA60144,AAA60145,P45880,Q5JSD1,Q5JSD2,ABM81860,ABM85023,NP_003366,AAD40241,CAH73106,CAH73107,CAH73108,CAI40910,CAI40911,CAI40912,CAI40913,CAI40914,EAW54569,EAW54570,EAW54571,EAW54572,EAW54573,EAW54574,BAG59237,BAH14290,AAH00165,AAH12883,AAH72407,CAG33245 Hs.355927 FLJ23841|POR OTTHUMP00000019878|OTTHUMP00000019879|OTTHUMP00000019880|outer mitochondrial membrane protein porin 2|voltage-dependent anion-selective channel protein 2 protein-coding 1352139 VDAC2P voltage-dependent anion channel 2 pseudogene 10049775,10830953 54015 NG_000899,AP001346,AP001666 VDAC2P pseudo 2802461 VDAC2P2 voltage-dependent anion channel 2 pseudogene 2 10049775 643996 AC007436,NG_021271 pseudo 733844 VDAC3 voltage-dependent anion channel 3 VDAC3 belongs to a group of mitochondrial membrane channels involved in translocation of adenine nucleotides through the outer membrane. These channels may also function as a mitochondrial binding site for hexokinase (see HK1; MIM 142600) and glycerol kinase (GK; MIM 300474) (Rahmani et al., 1998).[supplied by OMIM] 1298632,1580863 17353931,9781040,17683036,16381901,15592455,15489336,15489334,14739283,12477932,11507092,11076863,11042152,10833333,10501981,9804816,9653160,9228078,16169070,20434446,17207965,18029348,20877624,20138821 1298632 7419 CR620835,CR621209,CR621225,CR624748,DB484671,U90943,NM_001135694,NM_005662,AC107885,AF151682,CH471080,AF038962,AK058201,AK307224,AK308760,BC056870,BX643099,CR590872,CR594403,CR599765,CR608716,CR610937,CR612232,CR618206,CR619217,CR620684 AAB93872,Q9Y277,CAL38200,CAL38446,NP_001129166,NP_005653,AAD49610,EAW63217,EAW63218,EAW63219,AAC39876,AAH56870,ADQ32542 Hs.699301,Hs.655340 HD-VDAC3 VDAC-3|hVDAC3|mitochondrial voltage dependent anion channel 3|outer mitochondrial membrane protein porin 3|voltage-dependent anion-selective channel protein 3 protein-coding 1344230 VDAC3P voltage-dependent anion channel 3 pseudogene 338454 1349971 VDAC4P voltage-dependent anion channel 4 pseudogene VDAC4 belongs to a family of small, abundant pore-forming proteins found in the outer mitochondrial membrane. These channels are thought to form the major pathway for movement of adenine nucleotides through the outer membrane and may also function as the mitochondrial binding site for hexokinase (see HK1; MIM 142600) and glycerol kinase (GK; MIM 300474) (Blachly-Dyson et al., 1994 [PubMed 7517385]).[supplied by OMIM] 1580863 7517385 7418 AL445469,NG_007502,S75651 AAD14180 VDAC4|VDAC4P voltage-dependent anion channel 4 pseudo 1344182 VDAC5P voltage-dependent anion channel 5, pseudogene 1580863 7517385 10187 NG_000882,AC117496,S75494 AAD14175,Q36731 VDAC3|VDAC5P pseudo 1347941 VDI vesicular stomatitis virus defective interfering particle suppression 6275129 7420 619561 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 1331525,1580363,1580364,1580365,1580366,1580863,1624354,4889847,4889867,4889839,4889845,4889866,4889830,4889868,4889914,4889842,4889853,4889854,4889843,4889849,4889864,4889832,4889871 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1331525,1580363,1580364,1580365,1580366,1624354,4889847,4889867,4889839,4889845,4889866,4889830,4889868,4889914,4889842,4889853,4889854,4889843,4889849,4889864,4889832,4889871 7421 NM_000376,NM_001017535,NG_008731,AB002168,AC004466,AC121338,AY342401,AY427834,AY827087,CH471111,AB307700,AF026260,AK024830,AK225844,AK299446,AK312267,BC033465,BC060832,BM908433,BQ002808,BX355584,CF138099,J03258,M65208,X67482 NP_000367,NP_001017535,BAA83389,AAP88938,AAR10771,AAV85448,EAW57959,EAW57960,EAW57961,EAW57962,EAW57963,EAW57964,BAH02291,AAB95155,BAG61419,BAG35198,AAH60832,AAA61273,AAA61274,CAA47824,P11473,Q5PSV3,Q6T928,Q6ZPC2,ABZ92194,ACE87297,ACE86616 Hs.524368 NR1I1 1,25-dihydroxyvitamin D3 receptor|nuclear receptor subfamily 1 group I member 1|vitamin D3 receptor|vitamin d (1,25-dihydroxyvitamin d3) receptor 1643456,2289507 BW74_H,BW448_H protein-coding 731072 VEGFA vascular endothelial growth factor A This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically acts on endothelial cells and has various effects, including mediating increased vascular permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome, also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative and nonproliferative diabetic retinopathy. Alternatively spliced transcript variants, encoding either freely secreted or cell-associated isoforms, have been characterized. There is also evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with the first AUG, leading to additional isoforms. [provided by RefSeq] 634255,1580547,1580557,1580558,1580561,1580564,1580565,1580566,1580567,1580568,1580569,1580570,1580571,1580572,1580573,1580578,1334463,1626621,2298727,2313728,2313731,2292019,1580574,2315454,2315455,2315456,2315457,2315461,2315463,2315467,2315468,2301956,2301992,2313725,2301848,2315464,2315458,2315459,2313724,1580863 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634255,1580547,1580557,1580558,1580561,1580564,1580565,1580566,1580567,1580568,1580569,1580570,1580571,1580572,1580573,1580578,1334463,1626621,2298727,2313728,2313731,2292019,1580574,2315454,2315455,2315456,2315457,2315461,2315463,2315467,2315468,2301956,2301992,2313725,2315464,2315458,2315459,2313724 7422 BF700556,BM661679,CQ858312,CS067226,CS172363,CS172373,DA237741,NM_001171622,NM_001171623,NM_001171624,NM_001171625,NM_001171626,NM_001171627,NM_001171628,NM_001171629,NM_001171630,CS367293,CS367438,HC040683,HC040693,AF323587,AF430806,AF486837,AJ010438,AK056914,AK125666,AY047581,AY263145,AY500353,AY766116,BC011177,BC019867,BC058855,BC065522,BQ880667,BU153227,CN256173,CR592173,CR614384,CX756573,DQ229900,M27281,M32977,S85192,X62568,NM_003376,NM_001025367,NM_001025368,NM_001033756,NM_001025369,NM_001025370,NG_008732,AF095785,AF437895,AL136131,CH471081,M63978,S85224,AB021221,AB209485,AB451322,AB451451,AF022375,AF024710,AF062645,AF091352,AF214570,NM_001025366 CAH23417,CAI84576,CAJ32889,CAJ33665,NP_001165093,NP_001165094,NP_001165095,NP_001165096,NP_001165097,NP_001165098,NP_001165099,NP_001165100,NP_001165101,CAL32723,CAL33850,CBH30534,CBH30539,AAF19659,AAQ14857,AAL27435,AAM03108,CAA09179,AAK95847,AAP86646,AAV34601,AAH11177,AAH65522,ABB58912,AAA36807,AAA35789,AAC63102,CAA44447,P15692,Q59FH5,Q6WZM0,Q71S09,Q96FD9,Q9UNS8,AAI72307,ACE87825,ACT64542,NP_001020537,NP_003367,NP_001020538,NP_001020539,NP_001028928,NP_001020540,NP_001020541,AAD04918,AAL27630,CAC19512,CAC19513,CAC19515,CAC19516,CAM28207,EAX04227,EAX04228,EAX04229,EAX04230,EAX04231,EAX04232,EAX04233,EAX04234,EAX04235,AAA36804,AAC63101,BAA78418,BAD92722,BAG70136,BAG70265,AAC63143,AAC16730,AAD55345 Hs.73793 MGC70609|MVCD1|VEGF|VEGF-A|VPF OTTHUMP00000165987|OTTHUMP00000224107|vascular endothelial growth factor|vascular endothelial growth factor A|vascular permeability factor protein-coding 1343221 VEGFB vascular endothelial growth factor B 2298727,2314323,2313725,2314324,1625708,1580574,1580863 12366396,12881472,16109918,18259607,19275959,19483306,19910455,19948975,20223440,20228789,20308035,20452482,8919691,8637916,9684805,19424629,18930733,18757827,18564921,18537151,18511699,18317782,17082651,16839256,16616187,16570043,15489334,15009103,12652295,12477932,11122379,10409677,9751730,9365524,8702615,19913121,20501651,20628086,20673868 2298727,2314323,2313725,2314324,1625708,1580574 7423 AF468110,AP001453,CH471076,CS067228,EU332866,U43370,BC008818,CR602359,U43368,U43369,U48801,U52819,NM_003377 ABM86798,NP_003368,AAL79000,AAL79001,EAW74221,EAW74222,EAW74223,CAI84577,ABY87555,AAA91464,AAH08818,AAA91462,AAA91463,AAB06274,AAC50721,P49765,Q7LAP4,Q8TEV2,Q9UMT6,ABM83559,ABM86796 Hs.78781 VEGFL|VRF VEGF-B|VEGF-related factor|vascular endothelial growth factor B protein-coding 732214 VEGFC vascular endothelial growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family, is active in angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-3 receptors. Only the fully processed form can bind and activate VEGFR-2 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor D. [provided by RefSeq] 1334463,2298727,2315469,2315471,2315477,2315474,2315475,2315476,2315481,2315482,2315484,2315470,2315487,2315488,1580863 14558949,16044920,16530705,17222375,18250037,18399170,18953835,18983460,19024518,19275959,19291182,19304526,19462898,19608016,19629892,19648590,19671876,19701853,19717640,19779139,19825968,19828679,19885590,19910455,19911196,19934313,19956642,20137690,20145116,20179201,20215856,20223440,20237496,20379614,20452482,18307927,20672317,19107364,19821158,19280060,19276682,19152186,19151999,19141404,19117016,19084972,19066962,19041000,19002718,18974119,18924431,18798279,18773737,18717190,18679715,18652765,18630523,18627789,18614759,18609713,18564921,18561194,18538739,18512120,18509004,18440723,18295452,18292935,18261985,18245556,18205092,18192971,18190720,18061373,18057235,18035072,18006056,17970036,17935478,17931169,17926187,17686546,17676294,17641542,17640671,17465468,17409493,17393109,17353919,17230534,17216674,17203176,17094484,16964283,16944571,16924525,16879394,16874878,16816121,16755294,16584091,16570043,16525666,16525637,16525158,16474989,16467091,16465426,16322297,16299237,16116610,16049374,15943035,15880525,15870511,15756450,15668894,15623620,15590642,15489334,15484296,15340161,15272284,15240540,15173661,15151619,15040017,15009103,14966375,14760756,14744769,14676121,14568550,14534690,12963694,12915657,12819011,12792749,12594815,12477932,12471041,8617204,9684805,19589137,19420963,19351758,19347725,19347719,19302703,19299706,12469214,12452004,12388793,12213723,12168824,11999550,11920583,11877295,11332691,9247316,9233800,8700872,8653826,8612600,12810700,20651394,20825419,20336393,20429915,20864667,20119692,20021832,20827282,20522712,20584281,19913121,20628086,20628624,20673868 1334463,2298727,2315469,2315471,2315477,2315474,2315475,2315476,2315481,2315482,2315484,2315470,2315487,2315488 7424 AC092673,AC093801,AF020393,CH471056,CQ858314,CS023800,CS037003,CS067230,CS148543,CS172365,CS172813,AK313879,BC035212,BC063685,BF528469,CR541897,U43142,U58111,X94216,NM_005429,HC040685,CS367313,FB510793 NP_005420,EAX04717,CAH23418,CAI59112,CAI63838,CAI84578,CAJ29667,CAJ32890,CAJ32903,BAG36605,AAH35212,AAH63685,CAG46695,AAA85214,AAB02909,CAA63907,P49767,Q6FH59,ABM82088,ABM84271,ABM85407,ABM87665,CBH30535,CAL32724,CAV32970 Hs.435215 Flt4-L|VRP FLT4 ligand DHM|VEGF-C|vascular endothelial growth factor C|vascular endothelial growth factor-related protein protein-coding 1354153 VENTX VENT homeobox homolog (Xenopus laevis) This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq] 1580863 12477932,11549314,10790436,17963489,20028861,20833819 27287 NM_014468,AF288039,AL445199,AL592071,CH471211,AF068006,BC108915,BC108916 NP_055283,AAK83043,CAI17343,EAW61323,AAC82375,AAI08916,AAI08917,O95231,ABZ92230 Hs.125231 HPX42B|MGC119910|MGC119911|NA88A|VENTX2 VENT-like homeobox 2|VENT-like homeobox protein 2|hemopoietic progenitor homeobox protein VENTX2|homeobox protein VENTX protein-coding 1602836 VENTXP1 VENT homeobox (Xenopus laevis) pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq] 11549314,10790436 139538 NR_001559,AC079178,AF164963 P0C5K6 Hs.447377 CT18|NA88A|VENTX2P1 pseudo 1604697 VENTXP2 VENT homeobox (Xenopus laevis) pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq] 17963489 347975 NG_002909,AL355481 VENTX2P2 pseudo 1606649 VENTXP3 VENT homeobox (Xenopus laevis) pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq] 17963489 349814 NG_002911,AC128678 VENTX2P3 pseudo 1606955 VENTXP4 VENT homeobox (Xenopus laevis) pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 17963489 152101 NG_002906,AC098615 VENTX2P4 pseudo 1606061 VENTXP5 VENT homeobox (Xenopus laevis) pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 17963489 442384 NG_005091,AC015779 pseudo 1606058 VENTXP6 VENT homeobox (Xenopus laevis) pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 552879 NG_005090,AC027018,AC100784 pseudo 1352191 VENTXP7 VENT homeobox (Xenopus laevis) pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq] 11549314,7518789 391518 NR_002311,AC104183,X74864 CAA52857,Q14560 Hs.543226 HPX42|VENTX1 pseudo 1353776 VEPH1 ventricular zone expressed PH domain homolog 1 (zebrafish) 15761153,14702039,12477932,11214970,19913121,20628086,11329013,16344560,20237496,20379614 79674 AC020630,AC092944,CH471052,AB051479,AK022666,AK027625,AL713656,BC026235,BC042159,BC057999,BC078142,BC101660,BC111017,BC113555,NM_024621,BG194590,DA887051,NM_001167911,NM_001167912,NM_001167915,NM_001167916,NM_001167917 NP_078897,EAW78705,EAW78706,EAW78707,BAB21783,BAB14165,BAB55243,CAD28465,AAH42159,AAH57999,AAI01661,AAI11018,AAI13556,Q14D04,ADR83278,NP_001161383,NP_001161384,NP_001161387,NP_001161388,NP_001161389 Hs.658046 FLJ12604|KIAA1692|MELT|MGC111426|MGC126709|MGC142115|VEPH protein melted|ventricular zone-expressed PH domain-containing protein homolog 1 protein-coding 1317608 VEZF1 vascular endothelial zinc finger 1 Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM] 1580863 8035792,11504723,9865462,18029348 7716 NM_007146,AC015813,CH471109,AA195154,AK058024,BG718897,BX648862,CR609476,D28118 NP_009077,EAW94494,EAW94495,EAW94496,EAW94497,BAA05663,Q14119,AAI52727 Hs.463569 DB1|ZNF161 putative transcription factor DB1|vascular endothelial zinc finger 1|zinc finger protein 161 protein-coding 1626256 VEZF1L1 vascular endothelial zinc finger 1-like 1 647319 NG_006550,AC092966 ZNF161L1 pseudo 1602106 VEZT vezatin, adherens junctions transmembrane protein 16344560,16199027,14702039,12477932,12126233,11080149,9373149,8125298 55591 AK309943,AL133113,AL137497,BC014443,BC028597,BC040845,BC064939,BI835735,BQ023048,CR620366,DB136255,AC084879,AC127165,CH471054,AF216644,AF225417,AF277625,AK001338,AK225303,AK225356,AK307649,AK307864,NM_017599 CAB61416,CAB70772,AAH64939,Q9HBM0,NP_060069,EAW97524,EAW97525,EAW97526,EAW97527,EAW97528,EAW97529,EAW97530,EAW97531,EAW97532,EAW97533,EAW97534,EAW97535,EAW97536,AAG38485,AAG09719,AAG38514,BAA91634 Hs.24135 DKFZp761C241|VEZATIN transmembrane protein vezatin|vezatin protein-coding 69439 VGF VGF nerve growth factor inducible This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq] 1580863 19598235,10381005,17440014,15706611,18432310,17684500,16481598,12477932,9373149,9344675,9084409,8125298,20164831,20631166,20471433 7425 NM_003378,AC004876,CH471197,Y09938,Y12661,AK225839,BC006217,BC036537,BC044212,BC063835,HI573992 NP_003369,AAD45830,EAW50201,CAA73210,AAH44212,AAH63835,O15240,Q05BJ3,CBX47485 Hs.587325 OTTHUMP00000211482|neuro-endocrine specific protein VGF|neurosecretory protein VGF protein-coding 1352400 VGLL1 vestigial like 1 (Drosophila) 1580863 10518497,15772651,15489334,12477932 51442 NM_016267,AC000115,CH471150,Z97632,AF137387,AI207291,AK309912,BC000045,BC003362,CR590059,CR595192,CR602014,CR607030,CR608272,CR608710,CR609159,CR610361,CR611631,CR612495,CR614664,CR619873,CR625530,NG_013270 NP_057351,AAB46354,AAB46355,EAW88466,EAW88467,CAB10728,CAI42401,CAI42402,AAF13149,AAH00045,AAH03362,Q5H916,Q99990,Q99991,ABM81854,ABW03331 Hs.496843 TDU|VGL1 OTTHUMP00000024124|OTTHUMP00000024125|TONDU|WUGSC:H_GS188P18.1b|transcription cofactor vestigial-like protein 1|vgl-1 protein-coding 1323604 VGLL2 vestigial like 2 (Drosophila) 14762206,14702039,14516696,12617818,12477932,12376544,17207965 245806 CH471051,Z98880,AJ578053,AK096878,AY056583,BC069316,BC100798,BC100799,BC118545,BC118622,NM_182645,NM_153453 ADQ32953,NP_872586,EAW48210,EAW48211,CAI42376,CAI42377,CAE17331,BAC04881,AAL17720,AAH69316,AAI00799,AAI00800,AAI18546,AAI18623,Q5H8X9,Q8N8G2,AAI56483,AAI72539,NP_703154 Hs.99324 VGL2|VITO1 OTTHUMP00000017082|transcription cofactor vestigial-like 2|transcription cofactor vestigial-like protein 2|vestigial-like 2|vgl-2 protein-coding 1602804 VGLL3 vestigial like 3 (Drosophila) 21102462,15146197,14702039,12477932,12376544,11819507,19336002 389136 AC108709,CH471110,AA455617,AF099505,AI379920,AK095826,BC017383,BC062478,BC094780,BX369995,BX391744,CF995043,CN287582,CR600157,CR605157,CR936700,NM_016206,HH756203,HH792471 NP_057290,EAW68870,EAW68871,AAF00091,AAH94780,A8MV65,Q9UKZ7,CBX78569,CBX87123 Hs.726244,Hs.606507 DKFZp686O1845|FLJ38507|VGL-3|VGL3 colon carcinoma related protein|transcription cofactor vestigial-like protein 3|vestigial-like 3 protein-coding 1323223 VGLL4 vestigial like 4 (Drosophila) 1580863 19240061,16344560,15489334,15140898,14702039,12477932,8590280,20379614,20702774,21079607 9686 NM_014667,NM_001128219,NM_001128220,NM_001128221,AC022001,AC090939,CH471055,AK126479,AK130542,AK300344,AK307708,AK308761,BC000763,BC001514,BC003038,CR602971,CR614960,D50911,DA301780,DA321008,DA386938,DA525713 NP_055482,NP_001121691,NP_001121692,NP_001121693,EAW64098,EAW64099,EAW64100,EAW64101,EAW64102,EAW64103,EAW64104,EAW64105,EAW64106,BAC85375,BAG62089,AAH01514,AAH03038,BAA09470,Q0H0I4,Q0H0I7,Q14135,ACE87097,ACE86422 Hs.38032,Hs.728155 KIAA0121|VGL-4 OTTHUMP00000207651|OTTHUMP00000207654|OTTHUMP00000209401|Vestigial-like 4|transcription cofactor vestigial-like protein 4 protein-coding 737311 VHL von Hippel-Lindau tumor suppressor Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq] 1580368,1580369,1580371,1358257,1559297,1580561,2325176,2325181,2325183,625549,2325022,2325190,2325169 20447124,14973063,16234850,16511565,17047048,17350623,17439941,17558023,17986458,18950731,19133167,19159641,19408298,19419968,19574279,19584355,19602254,19620968,19629420,19649731,19690016,19759417,19764026,19801654,19806577,19808854,19825962,19906784,19915015,19915370,19933033,19940550,20068166,20137853,20145706,20185829,20205103,20208144,20431476,20453000,19162062,19223516,7660122,12169691,7660130,17973242,10353251,7604013,19525194,19464396,19464057,19458911,19401348,19399650,19351817,19343621,19340311,19336759,19336503,19305426,19288063,19280651,19258401,19252526,19238077,19228690,20300531,20375333,20855504,15966899,19216840,19215943,19208735,19158274,19145771,19073886,19064569,19062180,19061835,19056930,19030229,19029228,19018165,18998488,18985005,18836774,18806787,18780286,18751980,18751708,18694926,18685280,18676741,18635227,18607865,18559510,18551016,18517280,18474617,18446368,18426857,18424433,18423895,18416845,18408496,18389622,18359287,18285459,18245539,17264095,17255293,17245122,17200123,17102080,17101696,17069461,17060462,17006605,16983094,16951198,16892044,16884327,16856496,16849532,16769276,16768548,16707008,16678111,16669786,16506218,16503656,16407835,16314641,16278378,16261165,16210343,16208141,16170373,16144691,16142346,16107702,15998523,15985433,15962286,15932632,15921386,15893810,15849821,15824735,15824109,15809750,15805242,15777842,15750626,15696489,15611064,15608669,15607616,15604095,15601820,15572213,15530850,15467305,15448019,15300849,15162797,15122713,14985465,14963040,14767570,14729622,14726398,14722919,14691554,14667507,14636579,14604959,14556007,14531799,14517280,14506252,13985160,13679920,12937142,12912922,12844285,12839965,12821933,12810083,12781449,12767066,12743597,12697815,12692265,12684640,12682336,12682018,12673678,12644949,12640117,12609565,12538644,12511881,12510195,12490973,12482756,12477932,12468553,12460920,12415268,18223282,18212329,18162774,18094722,18085246,18079682,18073334,18072267,17998064,17997830,17967880,17954272,17936701,17919893,17912253,17906660,17898043,17846357,17825299,17786294,17696210,17688370,17680521,17661816,17639058,17568584,17555795,17526729,17486080,17450132,17438007,17407064,17296901,12414898,12393546,12378530,12374282,12351678,12209156,12114495,12114475,12097293,12086860,12050673,12048197,12036906,12032852,12016154,12004076,12000816,11990703,11987242,11986208,11921283,11908068,11865075,11840338,11749004,11739384,11709017,11641274,11517223,11504942,11483638,11384984,11292862,10973499,10944113,10850420,10823831,10635329,10627136,10535940,10533030,10523847,10449727,10408776,10364675,10205047,9880225,9829912,9829911,9751722,9671762,9663592,9651579,9399847,9271438,9156047,9122164,8956040,8931697,8863170,8825918,8765323,8733131,8730290,8700833,8674032,8634692,8592333,8550742,8522307,8493574,8270255,8183553,8069849,7987327,7987306,7829101,7759077,7728151,7690964,7566098,7563486,1673491,18305400,17981124,17973296,18173839,17353931,10587522,15721254,20382342,20599784,16325183,16611863,19913121,20382408,20628086,20651059,19814753,20973793 1580368,1580369,1580371,1358257,1559297,1580561,2325176,2325181,2325183,625549,2325022,2325190,2325169 7428 BC058831,BG284971,BG288777,BG914051,BM564781,BX100230,L15409,D58014,NM_000551,NM_198156,NG_008212,AC034193,AF010238,CH471055,U54612,X96489,AA361862,AF088066,AK304002,AK309560,AK315799,AW022843,HI574030,HI574032 AAH58831,P40337,NP_000542,NP_937799,AAB64200,EAW64064,EAW64065,EAW64066,EAW64067,EAW64068,AAA98614,CAA65343,BAG64919,BAG38142,CBX47504,CBX47505 Hs.517792,Hs.607789 HRCA1|RCA1|VHL1 elongin binding protein|pVHL|protein G7|von Hippel-Lindau disease tumor suppressor|von hippel-lindau syndrome homolog protein-coding 1603820 VHLL von Hippel-Lindau tumor suppressor-like Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that the selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. It binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and therefore functions as a dominant-negative VHL and a protector of HIF alpha. This gene is intronless and predominantly expressed in the placenta, and may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. [provided by RefSeq] 12477932,14757845,10475385,7566098,20139978 391104 NG_012639,NM_001004319,AL589685,AA324790,AY494836,BC130596,BC130598 NP_001004319,AAS48916,AAI30597,AAI30599,Q6RSH7 Hs.532378 VHLP|VLP VHL pseudogene|VHL-like protein|von Hippel-Lindau-like protein protein-coding 1349598 VHLP VHL pseudogene 10475385 27444 1316011 VIL1 villin 1 This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq] 1580863 17537734,19377296,17353931,2846586,18029348,19371634,18307996,18054784,17847007,17182858,16189514,15576363,15342783,15342556,15272027,12937273,12477932,12445810,11500485,9373149,8125298,6893424,3793760,3510866,3453110,2892781,1961750 7429 A07400,AC021016,AC073838,CH471063,CS223375,AK223398,AK300965,AK313709,BC017303,BP329402,X04657,X12901,A14103,NM_007127 NP_009058,CAA00664,AAY14886,EAW70619,EAW70620,CAJ46927,BAD97118,BAG62590,BAG36454,AAH17303,CAA28355,CAA31386,P09327,Q53F91,Q53S11,Q96AC8,CAA01148 Hs.654595 D2S1471|VIL OTTHUMP00000207159|villin-1 protein-coding 1347824 VILL villin-like The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. 737633,1580863 16921170,15489334,12477932,9179494,18022635,18006815 737633 50853 NM_015873,AC105752,AC144536,CH471055,AB209574,AK309304,AL702875,BC000243,BC004300,CR591344,D88154 NP_056957,EAW64506,BAD92811,AAH00243,AAH04300,BAA21668,O15195,Q59F86,ABM83469,ABM86680 Hs.103665 OTTHUMP00000161384|villin-like protein protein-coding 733128 VIM vimentin This gene encodes a member of the intermediate filament family. Intermediate filamentents, along with microtubules and actin microfilaments, make up the cytoskeleton. The protein encoded by this gene is responsible for maintaining cell shape, integrity of the cytoplasm, and stabilizing cytoskeletal interactions. It is also involved in the immune response, and controls the transport of low-density lipoprotein (LDL)-derived cholesterol from a lysosome to the site of esterification. It functions as an organizer of a number of critical proteins involved in attachment, migration, and cell signaling. Mutations in this gene causes a dominant, pulverulent cataract. 1580863 10625659,11581269,12226091,12441134,15345747,15527767,16510139,16769727,17373842,18029348,18184460,19270731,19366731,19386766,19404921,19447876,19528485,19617759,19695088,19696622,19776392,19806221,19888472,19915524,19937731,20104255,20109457,20171211,20350213,20468064,2500966,20176112,20602472,20729920,18947333,20609218,20447406,20121168,20471030,11895474,11802775,11744725,11514563,11441066,11423904,11243787,11172097,11082283,10887173,10852918,10852826,10613270,10469173,9565595,9373149,9261168,9190204,9188594,9175763,8523563,8125298,7983050,7925640,7644499,3792301,3661560,3467175,3371665,3027087,2806127,2472876,2323579,2251132,1918147,1722806,1478967,8822624,8381971,7842474,10491200,1516138,2203542,10845700,8997639,8424456,2201025,2059552,1991513,1812754,1726101,11160829,16169070,11278417,14600259,12099690,16189514,12639940,15383276,11375989,12358155,11889032,11827972,16130169,9150946,19476621,19422834,19403668,19331162,19252475,19168853,19165527,19126778,19117942,19013628,18985821,18977241,18790770,18695932,18681838,18653473,18632620,18464297,18407667,18241054,18219106,18176708,18155753,18046501,17960581,17719575,17703067,17663720,17652163,17601350,17585878,17476115,17403663,17289402,17083913,17081983,17056548,17050693,17031402,16964243,16912072,16901892,16703512,16568083,16565220,16487365,16365157,16298568,16270034,15846844,15777792,15592455,15556930,15489334,15456890,15255035,15231822,15164054,14996095,14762106,14760703,14702039,14595690,12906105,12829607,12761892,12750294,12727854,12706117,12600646,12483219,12477932,12466525,12429849,12366696,12210485,12194205,12169273,12084347,12003790,11911279,20651380,20588206,20701774,20358301,19690979,20169076 7431 NG_012413,AL133415,CH471072,EF445046,M14144,M18895,AF328728,AK056766,AK091813,AK093924,AK097336,AK098444,AK222482,AK222507,AK222602,AK290643,BC000163,BC030573,BC031031,BC066956,BQ050765,CR407690,CR590855,CR591166,CR593082,CR593122,CR593139,CR593157,CR593764,CR595631,CR595804,CR596331,CR596422,CR596714,CR597359,CR597703,CR597938,CR598442,CR599648,CR599707,CR600582,CR600607,CR601396,CR601844,CR602002,CR602499,CR602711,CR604328,CR604633,CR604958,CR605908,CR606048,CR607117,CR608196,CR608479,CR608699,CR608919,CR609103,CR609435,CR610054,CR611833,CR612980,CR614482,CR615569,CR616523,CR616791,CR617011,CR617507,CR617642,NM_003380,CR617845,CR618218,CR618852,CR619643,CR620637,CR620780,CR620841,CR620869,CR621379,CR621958,CR621990,CR622001,CR622265,CR622417,CR622549,CR623317,CR623356,CR624853,CR625446,M25246,X16478,X56134,Z19554 NP_003371,CAB87963,CAI39486,EAW86215,EAW86216,ACA06100,ACA06101,ACA06102,ACA06103,AAA61279,AAA61281,AAN09720,BAB71275,BAG52420,BAC05002,BAD96202,BAD96227,BAD96322,BAF83332,AAH00163,AAH30573,AAH66956,CAG28618,AAA61282,CAA34499,CAA39600,CAA79613,P08670,Q53HU8 Hs.715431,Hs.455493 FLJ36605 vimentin protein-coding 1348931 VIP vasoactive intestinal peptide The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq] 1580863 18240029,19239625,19508420,19712974,19950799,20007697,20072116,20180986,20237496,20379146,20398908,20503287,12036966,20675276,10096039,4035357,8389448,19476518,19470168,19272598,19258923,19143025,19136032,19086053,18682798,18663606,18441300,18383383,18351280,18234640,17885205,17804556,17703412,17683807,17466601,17448763,17430175,17430171,17275031,17175032,17003842,16965837,16893891,16728406,16713569,16697281,16226889,16189514,15489334,15247290,15169929,15155712,15093699,15009665,14574404,12754213,12670727,12477932,12409228,12225791,12220738,11884208,11713978,11027527,10801840,9454823,9313778,8146174,6571696,6139527,3899557,3748844,3654650,3202886,3025882,2995945,2987932,2839091,2434617,1863695,1318039,807467,10527688,10933622,10446313,1617429,11278902,20554694,17207965,20529207 7432 NM_003381,NM_194435,AL133356,CH471051,L00157,L00158,M11553,M11554,M14623,M32162,M33027,M36610,AK291959,AK313950,BC009794,CR593090,M36634,M54930 NP_003372,NP_919416,CAI21764,CAI21765,CAI21766,EAW47724,EAW47725,AAA61289,AAA61284,AAA61288,AAA61285,AAA69515,AAA61286,BAF84648,AAH09794,AAA61287,AAA63268,P01282,Q5TCY7,ADQ32372 Hs.53973 MGC13587|PHM27 OTTHUMP00000017452|VIP peptides protein-coding 735637 VIPR1 vasoactive intestinal peptide receptor 1 This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq] 1580863 15452121,18240029,20014941,20424473,18577758,20706588,7708752,8179610,8390245,8389448,19598235,19309439,19086053,18668120,18663606,18597186,18383379,18351280,18174366,18000164,17885205,17883247,17651798,17611633,17077178,16934434,16888207,16888206,16888167,16888162,16554109,16552823,16520374,16344560,16037943,15932876,15670850,15451021,15247290,15171718,14702039,14599709,12690118,12477932,12446722,12429744,12225791,12133828,12094871,12050216,11981043,11930171,11859928,11859927,11834941,11812772,11812005,11160313,11072126,11027527,10867004,9973484,9928020,9927997,8889548,8886855,8639654,7917790,7818527,20026142,20922191,807467,12036966 7433 AB065669,AC092047,CH471055,U11079,U11080,U11081,U11082,U11083,U11084,U11085,U11086,U11087,AK056819,AK123943,AK126759,AK293548,AK294609,AK298115,AK314334,BC064424,BU681817,DA200439,EF577396,L13288,L20295,X75299,NM_004624,FB659868 CAA53046,NP_004615,BAC05895,EAW64649,EAW64650,EAW64651,EAW64652,AAB60362,BAG51813,BAG57026,BAG57795,BAG60398,BAG36980,AAH64424,ABQ52416,AAA36805,AAA36802,P32241,CAS01788 Hs.348500 FLJ41949|HVR1|II|PACAP-R-2|RDC1|V1RG|VAPC1|VIPR|VIRG|VPAC1|VPCAP1R OTTHUMP00000209290|PACAP type II receptor|PACAP-R2|VIP receptor, type I|VIP-R-1|pituitary adenylate cyclase activating polypeptide receptor, type II|pituitary adenylate cyclase-activating polypeptide type II receptor|vasoactive intestinal polypeptide receptor 1 protein-coding 1351062 VIPR2 vasoactive intestinal peptide receptor 2 Vasoactive intestinal peptide (VIP; MIM 192320) and pituitary adenylate cyclase activating polypeptide (PACAP; MIM 102980) are homologous peptides that function as neurotransmitters and neuroendocrine hormones. While the receptors for VIP and PACAP share homology, they differ in their substrate specificities and expression patterns. See VIPR1 (MIM 192321) and ADCYAP1R1(MIM 102981).[supplied by OMIM] 1580863 18240029,19851296,20072116,20180986,20198315,20379146,20026142,20395540,8757618,7811244,19470168,19269029,19086053,18383383,17883247,17257640,17077178,16934434,16888203,16572459,16552823,16500728,15489334,15302876,15090046,12690205,12477932,12150135,11728828,11351046,11193874,11160313,11072126,10801840,10764955,10481065,9629281,9541464,9454823,8938447,8933357,8146174,7733904,18577758,12036966,20554694 7434 NM_003382,AC004863,AC007269,AF027390,CH236954,CH471149,L40764,Y18423,AK131406,AK308955,AK310386,BC010569,BT007118,CA449700,CR610555,L36566,U18810,X95097 NP_003373,AAC09171,EAL23936,EAL23937,EAX04596,AAC41756,CAB41899,BAD18553,AAH10569,AAP35782,AAC37569,AAC50872,CAA64474,P41587,Q6ZN22,Q71V81,ABM92188,ABM84658 Hs.585052 FLJ16511|VPAC2|VPCAP2R PACAP type III receptor|PACAP-R-3|PACAP-R3|VIP-R-2|helodermin-preferring VIP receptor|pituitary adenylate cyclase-activating polypeptide type III receptor|vasoactive intestinal polypeptide receptor 2 protein-coding 1352794 VIS1 viral integration site 1 1682866 7435 U56440 1353199 VIT vitrin 14702039,12975309,12477932,12388743,10830112,9847074,12766061,15489334,20379614 5212 NM_053276,AC007363,CH471053,AF063833,AK056772,AL832679,AY358338,BC061519,BC128260,AK292149,AK299426,CD679226,NM_001177969,NM_001177970,NM_001177971,NM_001177972 NP_444506,AAF19243,EAX00416,EAX00417,EAX00418,EAX00419,AAL18263,BAB71279,AAQ88704,AAH61519,AAI28261,Q6UXI7,BAF84838,BAG61406,NP_001171440,NP_001171441,NP_001171442,NP_001171443 Hs.137415 DKFZp313L1517|MGC149746|MGC70561 OTTHUMP00000201299|OTTHUMP00000201300|vitrin protein-coding 1604306 VKORC1 vitamin K epoxide reductase complex, subunit 1 Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq] 2315841 20621035,20163834,20569971,20831047,20833655,20833980,20842355,20854800,20860466,20885015,20930419,20946155,21044367,21057703,21063236,20696932,20359285,19436136,19387626,19376320,19324988,19320825,19319511,19300499,19297219,19233910,19225451,19207028,19181737,19177029,19172700,19139476,19135231,19124480,19117406,19099951,19077919,19074728,19056482,19034590,16676068,16634640,16611750,16611310,16580898,16549638,16513444,16432637,16424822,16420583,16270630,16270629,16201835,16141794,16030016,15978113,15972850,15947090,15930419,15888487,15883587,15790782,15716279,15630486,15489334,15358623,15276181,14765195,14765194,12975309,12477932,12384421,11154138,19025725,19018719,19018718,18950464,18855533,18848323,18841283,18826394,18813101,18805772,18781852,18754001,18698879,18690342,18680736,18680536,18629445,18609070,18574025,18559094,18542936,18535201,18532998,18523153,18516070,18480003,18466315,18466099,18449434,18370846,18322281,18305455,18281915,18252229,18240904,18218987,18183038,18034619,18034618,18030307,17995970,17989110,17961434,17899045,17883699,17883698,17849045,17764537,17721328,17666014,17653141,17596133,17549303,17510308,17413769,17391071,17329985,17325732,17301738,17192772,17189218,17164330,17111199,17110455,17049586,17048007,17031720,17015052,16890578,16879214,16847429,16815313,16700826,16677080,19530970,19538716,19545555,19567378,19578179,19652895,19663669,19738376,19745563,19780415,19781295,19794411,19842934,19874474,19875892,19941044,19942260,19948975,19958090,20020283,20043560,20072124,20073138,20075209,20121287,20149073,20193673,20203262,20204461,20210733,20226775,20228265,20339191,20339978,20354686,20376629,20381283,20386359,20421126,20434758,20442691,20459419,20488169,20499136,20504253,20532885,20553802,20555338,20575749,20579077,20581661,20585445,20585834,20597268,20602615,20615525,20637959,20653674,20653676,20709439,20716240,20733952,20811787 2315841 79001 NM_024006,NG_011564,AC135050,AY587020,CH471192,AF176924,AK125618,AK129513,AK289790,AK312005,AY423044,AY466113,AY521634,NM_206824,BC000828,BC002911,BI822140,CD249837,CR623242,CS811288 NP_996560,NP_076869,AAS83106,EAW52165,EAW52166,EAW52167,EAW52168,AAQ13668,BAC86222,BAF82479,BAG34943,AAR82914,AAR28759,AAS01052,AAH02911,Q9BQB6,CAP58832 Hs.324844 EDTP308|FLJ00289|IMAGE3455200|MGC2694|MST134|MST576|VKCFD2|VKOR phylloquinone epoxide reductase|vitamin K dependent clotting factors deficiency 2|vitamin K epoxide reductase complex subunit 1|vitamin K1 2,3-epoxide reductase subunit 1|vitamin K1 epoxide reductase (warfarin-sensitive) protein-coding 1353419 VKORC1L1 vitamin K epoxide reductase complex, subunit 1-like 1 1580863 17996924,15489334,14765194,14702039,17207965,12477932,20379614 154807 NM_173517,AC073261,AC093485,AC093582,CH471140,AK000750,AK001747,AK055860,AK124688,AK289522,AK304077,AL137548,AY423045,BC007465,BC014249,BC027734,BX647631,CR602129,CR627471 NP_775788,EAX07952,BAF82211,BAG64984,AAR82915,AAH27734,CAH10673,Q8N0U8,ADQ32268 Hs.427232 DKFZp762H0113 VKORC1-like protein 1|vitamin K epoxide reductase complex subunit 1-like protein 1 protein-coding 1604423 VKORC1P1 VKORC1 pseudogene 1 414355 NG_004115,AC112492 pseudo 1604422 VKORC1P2 VKORC1 pseudogene 2 414357 NG_004116,AL357373 pseudo 733926 VLDLR very low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq] 1580813,737740,1625573,1625579,1625568,1625577,1625575,1625570,737739,1358346,1580863,1358468,2317973,2324668,2324671 17330141,18326629,10380922,8083232,7550352,15082773,19393635,19015224,18685438,18364738,18277139,18056683,18043714,18039658,18032585,17936586,17890782,17854420,17472347,16384981,16080122,15953542,15950998,15950758,15863833,15164053,15064754,14702039,12857919,12824284,12477932,12363388,12169628,12167620,11931574,11342683,11266465,10629142,10571241,10571240,10391209,9630508,9132912,8294473,8128315,8069294,8020981,7828550,7797576,7592875,12899622,12670700,10827173,9555943,19913121,20624392,20628086 1580813,737740,1625573,1625579,1625568,1625577,1625575,1625570,737739,1358346,1358468,2317973,2324668,2324671 7436 AK289527,BC136562,BC142653,BC144245,CR599863,CR620590,D16493,D16494,L20470,L22431,S73849,NM_003383,NM_001018056,NG_012741,AL450467,CH471071,D16532,DQ067198,AA758887,AB208822,AK092381,AK095744 BAF82216,AAI36563,AAI42654,AAI44246,BAA03945,BAA03946,AAA53684,AAA61344,AAB31735,P98155,Q59HD7,Q5VVF5,Q8NAN7,BAG53118,NP_003374,NP_001018066,CAH72452,CAH72453,CAH72454,CAH72455,EAW58804,EAW58805,EAW58806,EAW58807,EAW58808,BAA03969,AAY46157,BAD92059,BAC03874 Hs.370422 CARMQ1|CHRMQ1|FLJ35024|VLDLRCH OTTHUMP00000020984|VLDL receptor|VLDL-R|very low-density lipoprotein receptor 1643245 BW137_H protein-coding 1604972 VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) Sugie et al. (2005) [PubMed 15977643] classified X-linked myopathy with excessive autophagy (XMEA) as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. Danon disease (MIM 300257), caused by mutation in the LAMP2 gene (MIM 309060) on chromosome Xq24, is a distinct disorder with similar pathologic features.[supplied by OMIM] 16381901,15977643,15489336,14702039,12477932,11256614,11076863,10757644,2892402,10805342,16344560,19379689 203547 NM_001017980,AF003627,CH471169,AF086459,AK025798,AK091301,AK096835,AL833596,BC103701,BC103702,BC105693,BC105694,BC110800,DA224893,NG_016761 NP_001017980,EAW99403,EAW99404,BAG53371,AAI03702,AAI03703,AAI05694,AAI05695,AAI10801,Q3ZAQ7,CAL37544 Hs.58633 MEAX|MGC125514|MGC125516|MGC131652|XMEA myopathy with excessive autophagy protein|vacuolar ATPase assembly integral membrane protein VMA21 protein-coding 1606370 VMAC vimentin-type intermediate filament associated coiled-coil protein 16344560,14985129,12477932 400673 NM_001017921,AC104532,CH471139,AK124162,BC110802,DA541168 NP_001017921,EAW69129,EAW69130,BAG54017,AAI10803,Q2NL98 Hs.620821 MGC131658 vimentin-type IF-associated coiled-coil protein|vimentin-type intermediate filament-associated coiled-coil protein protein-coding 1344797 VMD1 vitelliform macular dystrophy, atypical 7438 1605251 VMO1 vitelline membrane outer layer 1 homolog (chicken) 15489334,15340161,12975309,12477932 284013 AC233723,NM_182566,NM_001144939,NM_001144940,NM_001144941,AC109333,CH471108,AF521892,AY359099,BC038467,BC104194,BC104195,BI836994,CD367284,CD367473 NP_872372,NP_001138411,NP_001138412,NP_001138413,EAW90410,EAW90411,AAP80865,AAQ89457,AAH38467,AAI04195,AAI04196,Q3SXP2,Q7Z5L0,Q8IUY1 Hs.122561 ERGA6350|MGC125880|MGC125881|PRO21055 vitelline membrane outer layer protein 1 homolog protein-coding 1318565 VN1R1 vomeronasal 1 receptor 1 Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq] 1580863 17627382,15489334,14702039,12826614,12477932,12044878,11163270,11116092,10973240,19952141,20379614 57191 NM_020633,AB083606,AC004076,AY312477,AY312478,AY312479,CH471135,AF255342,AF302903,AK094452,BC095508,BG167434 NP_065684,BAB89319,AAP85612,AAP85613,AAP85614,EAW72503,AAG10698,AAG22545,BAG52867,AAH95508,Q9GZP7 Hs.388810,Hs.677423 V1RL1|VNR19I1|ZVNH1|ZVNR1 G-protein coupled receptor GPCR24|V1R-like 1|V1r-like receptor 1|V3r-related gene protein|hGPCR24|vomeronasal olfactory receptor chromosome 19 subtype I member 1|vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1|vomeronasal type-1 receptor 1 protein-coding 2923010 VN1R100P vomeronasal 1 receptor 100 pseudogene 19952141 100312846 AC010320,NG_015704 pseudo 3184214 VN1R101P vomeronasal 1 receptor 101 pseudogene 19952141 729885 AC022137,NG_013420 pseudo 2923009 VN1R102P vomeronasal 1 receptor 102 pseudogene 19952141 100312847 AC022137,NG_015705 pseudo 3129704 VN1R103P vomeronasal 1 receptor 103 pseudogene 19952141 730066 AC022137,CR617375,NG_013421 Hs.652116 pseudo 2974686 VN1R104P vomeronasal 1 receptor 104 pseudogene 19952141 100288195 AC008984,NG_014074 pseudo 2946935 VN1R105P vomeronasal 1 receptor 105 pseudogene 19952141 100288264 NG_014075,AC009892 pseudo 2923008 VN1R106P vomeronasal 1 receptor 106 pseudogene 19952141 100312848 AC008749,NG_015706 pseudo 2922961 VN1R107P vomeronasal 1 receptor 107 pseudogene 19952141 100312849 AC004076,NG_015707 pseudo 2922959 VN1R108P vomeronasal 1 receptor 108 pseudogene 19952141 100312850 AL390198,NG_015708 pseudo 2922956 VN1R109P vomeronasal 1 receptor 109 pseudogene 19952141 100312851 AJ239321,NG_015709 pseudo 1352823 VN1R10P vomeronasal 1 receptor 10 pseudogene 19952141 387316,387316 AL021808,NG_015638 VNR6I1P|b24o18.2|hs6V1-1p pseudo 2923052 VN1R110P vomeronasal 1 receptor 110 pseudogene 19952141 100312803 AC115618,NG_015661 pseudo 2922955 VN1R111P vomeronasal 1 receptor 111 pseudogene 19952141 100312852 AL356585,NG_015710 pseudo 2922953 VN1R112P vomeronasal 1 receptor 112 pseudogene 19952141 100312854 AL592188,NG_015712 pseudo 1342547 VN1R11P vomeronasal 1 receptor 11 pseudogene 19952141 387317,387317 AL021807,NG_015637 VNR6I2P|dJ86C11.7|hs6V1-2p pseudo 1348597 VN1R12P vomeronasal 1 receptor 12 pseudogene 19952141 387321,387321 AL590062,NG_015635 VNR6I3P|bA373D17.2|hs6V1-3p pseudo 1348444 VN1R13P vomeronasal 1 receptor 13 pseudogene 19952141 387322,387322 AL590062,NG_015636 VNR6I4P|bA373D17.3|hs6V1-4p pseudo 1348260 VN1R14P vomeronasal 1 receptor 14 pseudogene 19952141 387320,387320 AL513548,NG_015634 VNR6I5P|bA457M11.4|hs6M1-5p pseudo 2923050 VN1R15P vomeronasal 1 receptor 15 pseudogene 19952141 100312804 AL592310,NG_015662 pseudo 2923055 VN1R16P vomeronasal 1 receptor 16 pseudogene 19952141 100312805 AL390728,NG_015663 pseudo 3378732 VN1R17P vomeronasal 1 receptor 17 pseudogene 12044878,16620963,19952141 441931 AB083605,AC104335,NG_011997 BAB89318,Q8TDU5 GPCR pseudo 3254955 VN1R18P vomeronasal 1 receptor 18 pseudogene 19952141 100133087 AC092650,NG_014058 pseudo 2923013 VN1R19P vomeronasal 1 receptor 19 pseudogene 19952141 100312843 AC098826,NG_015701 pseudo 1353808 VN1R2 vomeronasal 1 receptor 2 1580863 12826614,12477932,12123587,12044878,19952141 317701 NM_173856,AB083607,AC092070,AF370359,AY312480,AY312481,AY312482,CH471135,CS248074,BC130356,BC130358 NP_776255,BAB89320,AAM83034,AAP85615,AAP85616,AAP85617,EAW72126,CAJ56564,AAI30357,AAI30359,Q8NFZ6,ADR82959 Hs.553684 V1RL2 G-protein coupled receptor GPCR25|V1R-like 2|V1r-like receptor 2|hGPCR25|pheromone receptor|vomeronasal type-1 receptor 2 protein-coding 2946911 VN1R20P vomeronasal 1 receptor 20 pseudogene 19952141 100312775 AC069462,NG_015633 pseudo 3497434 VN1R21P vomeronasal 1 receptor 21 pseudogene 19952141 100128368 AC090004,NG_014048 pseudo 2923012 VN1R22P vomeronasal 1 receptor 22 pseudogene 19952141 100312844 AP001819,NG_015702 pseudo 2923011 VN1R23P vomeronasal 1 receptor 23 pseudogene 19952141 100312845 AP001819,NG_015703 pseudo 2946903 VN1R24P vomeronasal 1 receptor 24 pseudogene 19952141 100312781 AC092447,NG_015639 pseudo 2946908 VN1R25P vomeronasal 1 receptor 25 pseudogene 19952141 100312782 AC092447,NG_015640 pseudo 2946904 VN1R26P vomeronasal 1 receptor 26 pseudogene 19952141 100312783 AC095038,NG_015641 pseudo 2946902 VN1R27P vomeronasal 1 receptor 27 pseudogene 19952141 100312784 AC099654,NG_015642 pseudo 2946899 VN1R28P vomeronasal 1 receptor 28 pseudogene 19952141 100312785 AC073057,NG_015643 pseudo 2946901 VN1R29P vomeronasal 1 receptor 29 pseudogene 19952141 100312786 AC092175,NG_015644 pseudo 1313180 VN1R3 vomeronasal 1 receptor 3 pseudogene 1580863 12826614,12477932,12123587,19952141 317702 NG_005664,AC002519,CH471192,AF336873,BC107073,BC107074 EAW52107,AAK21299,Q9BXE9 Hs.257746 FKSG46|MGC129709|MGC129710|V1RL3|V1RL3p pseudo 3028785 VN1R30P vomeronasal 1 receptor 30 pseudogene 19952141 100287919 AC006455,NG_014072 pseudo 2946900 VN1R31P vomeronasal 1 receptor 31 pseudogene 19952141 100312787 AC073188,NG_015645 pseudo 2946898 VN1R32P vomeronasal 1 receptor 32 pseudogene 19952141 100312788 AC073188,NG_015646 pseudo 3003944 VN1R33P vomeronasal 1 receptor 33 pseudogene 19952141 100288022 AC073188,NG_015943 pseudo 3254956 VN1R34P vomeronasal 1 receptor 34 pseudogene 19952141 100129587 AC092634,NG_014051 pseudo 2946896 VN1R35P vomeronasal 1 receptor 35 pseudogene 19952141 100312789 AC092634,NG_015647 pseudo 2946897 VN1R36P vomeronasal 1 receptor 36 pseudogene 19952141 100312790 AC092634,NG_015648 pseudo 2837778 VN1R37P vomeronasal 1 receptor 37 pseudogene 19952141 402273 AC091685,NG_013382 pseudo 2881180 VN1R38P vomeronasal 1 receptor 38 pseudogene 19952141 100131065 AC091685,NG_014053 pseudo 2946895 VN1R39P vomeronasal 1 receptor 39 pseudogene 19952141 100312791 AC073270,NG_015649 pseudo 1347041 VN1R4 vomeronasal 1 receptor 4 15489334,12826614,12477932,12123587,12044878,18029348,19952141 317703 NM_173857,AB083609,AC092070,AY114733,AY312485,AY312486,AY312487,AY312488,CS248620,BC104935,BC104939 NP_776256,BAB89322,AAM66754,AAP85618,AAP85619,AAP85620,AAP85621,CAJ56825,AAI04936,AAI04940,Q7Z5H5 Hs.553685 V1RL4 G-protein coupled receptor GPCR27|V1R-like 4|V1r-like receptor 4|hGPCR27|pheromone receptor|vomeronasal type-1 receptor 4 protein-coding 2946894 VN1R40P vomeronasal 1 receptor 40 pseudogene 19952141 100312792 AC022202,NG_015650 pseudo 2946891 VN1R41P vomeronasal 1 receptor 41 pseudogene 19952141 100312793 AC022202,NG_015651 pseudo 2946892 VN1R42P vomeronasal 1 receptor 42 pseudogene 19952141 100312794 AC092161,NG_015652 pseudo 2946893 VN1R43P vomeronasal 1 receptor 43 pseudogene 19952141 100312795 NG_015653,AC073210 pseudo 2922958 VN1R44P vomeronasal 1 receptor 44 pseudogene 19952141 100312855 AC011043,NG_015713 pseudo 2946890 VN1R45P vomeronasal 1 receptor 45 pseudogene 19952141 100312796 AC022616,NG_015654 pseudo 3516402 VN1R46P vomeronasal 1 receptor 46 pseudogene 19952141 100131789 AC022616,NG_014057 pseudo 2946887 VN1R47P vomeronasal 1 receptor 47 pseudogene 19952141 100312797 AL139008,NG_015655 pseudo 2946888 VN1R48P vomeronasal 1 receptor 48 pseudogene 19952141 100312798 AL390726,NG_015656 pseudo 2946889 VN1R49P vomeronasal 1 receptor 49 pseudogene 19952141 100312799 AL954185,NG_015657 pseudo 1352631 VN1R5 vomeronasal 1 receptor 5 15489334,12826614,12477932,12123587,12044878,19952141 317705 NM_173858,AB083608,AC104335,AY114735,AY312489,AY312491,CH471148,BC126341,BC126367 NP_776257,BAB89321,AAM66756,AAP85622,AAP85623,EAW77177,AAI26342,AAI26368,Q7Z5H4 Hs.553686 V1RL5 G-protein coupled receptor GPCR26|V1R-like 5|V1r-like receptor 5|hGPCR26|pheromone receptor|vomeronasal type-1 receptor 5 protein-coding 2923053 VN1R50P vomeronasal 1 receptor 50 pseudogene 19952141 100312800 AL359955,NG_015658 pseudo 2923054 VN1R51P vomeronasal 1 receptor 51 pseudogene 19952141 100312801 AL445670,NG_015659 pseudo 2923056 VN1R52P vomeronasal 1 receptor 52 pseudogene 19952141 100312802 AL590705,NG_015660 pseudo 2923051 VN1R53P vomeronasal 1 receptor 53 pseudogene 19952141 100312806 AL157387,NG_015664 pseudo 2923049 VN1R54P vomeronasal 1 receptor 54 pseudogene 19952141 100312807 AL022344,NG_015665 pseudo 2923048 VN1R55P vomeronasal 1 receptor 55 pseudogene 19952141 100312808 AL353149,NG_015666 pseudo 2946905 VN1R56P vomeronasal 1 receptor 56 pseudogene 19952141 100312774 AC123788,NG_015632 pseudo 2923046 VN1R57P vomeronasal 1 receptor 57 pseudogene 19952141 100312809 AC091515,NG_015667 pseudo 2923047 VN1R58P vomeronasal 1 receptor 58 pseudogene 19952141 100312810 AL138715,NG_015668 pseudo 2923045 VN1R59P vomeronasal 1 receptor 59 pseudogene 19952141 100312811 AL049874,NG_015669 pseudo 2923044 VN1R60P vomeronasal 1 receptor 60 pseudogene 19952141 100312812 AC012414,NG_015670 pseudo 2923043 VN1R61P vomeronasal 1 receptor 61 pseudogene 19952141 100312813 AC037471,NG_015671 pseudo 2923040 VN1R62P vomeronasal 1 receptor 62 pseudogene 19952141 100312814 AC183089,NG_015672 pseudo 2923041 VN1R63P vomeronasal 1 receptor 63 pseudogene 19952141 100312815 AC183089,NG_015673 pseudo 3102884 VN1R64P vomeronasal 1 receptor 64 pseudogene 19952141 730196 AC106730,NG_013422 pseudo 3497433 VN1R65P vomeronasal 1 receptor 65 pseudogene 19952141 100128384 AC106730,NG_014049 pseudo 3302175 VN1R66P vomeronasal 1 receptor 66 pseudogene 19952141 100129315 AC106730,NG_014050 pseudo 2859190 VN1R67P vomeronasal 1 receptor 67 pseudogene 19952141 100131118 AC002519,NG_014054 pseudo 3539537 VN1R68P vomeronasal 1 receptor 68 pseudogene 19952141 100131688 AC023824,AC092133,NG_014056 pseudo 2923042 VN1R69P vomeronasal 1 receptor 69 pseudogene 19952141 100312816 AC023824,NG_015674 pseudo 1349927 VN1R6P vomeronasal 1 receptor 6 pseudogene 317700,653753 AC010467,NG_012999 VNR19I2|ZVNH2|ZVNR2 pseudo 3129620 VN1R70P vomeronasal 1 receptor 70 pseudogene 19952141 100130059 AC106785,NG_014052 pseudo 2923038 VN1R71P vomeronasal 1 receptor 71 pseudogene 19952141 100312817 AC069061,NG_015675 pseudo 2922960 VN1R72P vomeronasal 1 receptor 72 pseudogene 19952141 100312853 AC011841,NG_015711 pseudo 2923035 VN1R73P vomeronasal 1 receptor 73 pseudogene 19952141 100312818 AC006557,NG_015676 pseudo 2923034 VN1R74P vomeronasal 1 receptor 74 pseudogene 19952141 100312819 AP006564,NG_015677 pseudo 2923037 VN1R75P vomeronasal 1 receptor 75 pseudogene 19952141 100312820 AP005901,NG_015678 pseudo 2923032 VN1R76P vomeronasal 1 receptor 76 pseudogene 19952141 100312821 AC011155,NG_015679 pseudo 2923033 VN1R77P vomeronasal 1 receptor 77 pseudogene 19952141 100312822 AC007204,NG_015680 pseudo 2923030 VN1R78P vomeronasal 1 receptor 78 pseudogene 19952141 100312823 AC010636,NG_015681 pseudo 2923031 VN1R79P vomeronasal 1 receptor 79 pseudogene 19952141 100312824 AC010329,NG_015682 pseudo 1349341 VN1R7P vomeronasal 1 receptor 7 pseudogene 11116092,10830953 100132759 AP003900,NG_002218,AF253314,AF254983 ORLP1|PHB4C5 pseudo 2923036 VN1R80P vomeronasal 1 receptor 80 pseudogene 19952141 100312825 AC012627,NG_015683 pseudo 2923039 VN1R81P vomeronasal 1 receptor 81 pseudogene 19952141 100312826 AC010620,NG_015684 pseudo 2923027 VN1R82P vomeronasal 1 receptor 82 pseudogene 19952141 100312827 AC010620,NG_015685 pseudo 2923028 VN1R83P vomeronasal 1 receptor 83 pseudogene 19952141 100312828 AC022432,NG_015686 pseudo 2923029 VN1R84P vomeronasal 1 receptor 84 pseudogene 19952141 100312829 AC092364,NG_015687 pseudo 2923026 VN1R85P vomeronasal 1 receptor 85 pseudogene 19952141 100312830 AC073539,NG_015688 pseudo 2923025 VN1R86P vomeronasal 1 receptor 86 pseudogene 19952141 100312831 AC004004,NG_015689 pseudo 2923024 VN1R87P vomeronasal 1 receptor 87 pseudogene 19952141 100312832 AC024563,NG_015690 pseudo 2923023 VN1R88P vomeronasal 1 receptor 88 pseudogene 19952141 100312833 AC022145,NG_015691 pseudo 2923022 VN1R89P vomeronasal 1 receptor 89 pseudogene 19952141 100312834 AC022145,NG_015692 pseudo 1349116 VN1R8P vomeronasal 1 receptor 8 pseudogene 10830953,19952141 54041 NG_002647,AL050302,AL078475 ORLP2 pseudo 2923021 VN1R90P vomeronasal 1 receptor 90 pseudogene 19952141 100312835 AC010300,NG_015693 pseudo 2923020 VN1R91P vomeronasal 1 receptor 91 pseudogene 19952141 100312836 AC010300,NG_015694 pseudo 2923019 VN1R92P vomeronasal 1 receptor 92 pseudogene 19952141 100312837 AC022409,NG_015695 pseudo 2923018 VN1R93P vomeronasal 1 receptor 93 pseudogene 19952141 100312838 AC073544,NG_015696 pseudo 2923017 VN1R94P vomeronasal 1 receptor 94 pseudogene 19952141 100312839 AC073544,NG_015697 pseudo 2859164 VN1R95P vomeronasal 1 receptor 95 pseudogene 19952141 100131141 AC006504,NG_014055 pseudo 2802020 VN1R96P vomeronasal 1 receptor 96 pseudogene 19952141 100127969 AC011496,NG_014047 pseudo 2923016 VN1R97P vomeronasal 1 receptor 97 pseudogene 19952141 100312840 AC008392,NG_015698 pseudo 2923015 VN1R98P vomeronasal 1 receptor 98 pseudogene 19952141 100312841 AC006272,NG_015699 pseudo 2923014 VN1R99P vomeronasal 1 receptor 99 pseudogene 19952141 100312842 AC010320,NG_015700 pseudo 1344481 VN1R9P vomeronasal 1 receptor 9 pseudogene 19952141 317691 AC006548,NG_015792 VN1R22-1P pseudo 1625461 VN2R10P vomeronasal 2 receptor 10 pseudogene 100033398 NG_006059,AC009139 pseudo 1625460 VN2R11P vomeronasal 2 receptor 11 pseudogene 100033399 NG_006060,AC016588 pseudo 1625459 VN2R12P vomeronasal 2 receptor 12 pseudogene 100033400 NG_006061,AC104527 pseudo 1625458 VN2R13P vomeronasal 2 receptor 13 pseudogene 100033401 NG_006062,AC008543 pseudo 1625457 VN2R14P vomeronasal 2 receptor 14 pseudogene 100033402 NG_006063,AC008770 pseudo 2291771 VN2R15P vomeronasal 2 receptor 15 pseudogene 100033403 NG_007173,AC008770 pseudo 1625841 VN2R16P vomeronasal 2 receptor 16 pseudogene 100033404 NG_006108,AC010422 pseudo 1625095 VN2R17P vomeronasal 2 receptor 17 pseudogene 649186 NG_006107,AB065923,AC006116 BAC06138,Q8NGA3 pseudo 2291770 VN2R18P vomeronasal 2 receptor 18 pseudogene 17382427 100033406 NG_007172,AC006116 pseudo 1625456 VN2R19P vomeronasal 2 receptor 19 pseudogene 100033407 NG_006064,AC008969 pseudo 1606395 VN2R1P vomeronasal 2 receptor 1 pseudogene 12044878 344760 NG_006066,AB065664,AB083610,AC067721 BAC05890,BAB89323,Q8TDU1 CASRL1|GPRC2B pseudo 1625455 VN2R20P vomeronasal 2 receptor 20 pseudogene 100033408 NG_006065,AP000474 pseudo 2291769 VN2R21P vomeronasal 2 receptor 21 pseudogene 100127050 AC008770,NG_007174 pseudo 1625468 VN2R2P vomeronasal 2 receptor 2 pseudogene 100033391 NG_006052,AC022096 pseudo 1625467 VN2R3P vomeronasal 2 receptor 3 pseudogene 100033392 NG_006053,AL353729 pseudo 1625466 VN2R4P vomeronasal 2 receptor 4 pseudogene 100033393 NG_006054,AL353791 pseudo 1625465 VN2R5P vomeronasal 2 receptor 5 pseudogene 100033394 NG_006055,AC025861,AL592525 VN2R8P pseudo 1625464 VN2R6P vomeronasal 2 receptor 6 pseudogene 100033395 NG_006056,AL953854 pseudo 1625463 VN2R7P vomeronasal 2 receptor 7 pseudogene 100033396 NG_006057,BX005195 pseudo 1625462 VN2R8P vomeronasal 2 receptor 8 pseudogene 100033397 NG_006058,AC025861 pseudo 1604409 VN2R9P vomeronasal 2 receptor 9 pseudogene 12477932 648315 BC067882,NG_005898,AP004247 Hs.652053 pseudo 1320770 VNN1 vanin 1 This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq] 1300048,1580863 17145956,9790769,11491533,18043751,17312006,16335952,15489334,15282320,15084671,14966568,14702039,14574404,12477932,10567687,8934567,20641033,19322213,20571492 8876 BJ995136,U39664,NM_004666,NG_012147,AL032821,CH471051,DQ100297,AJ132099,AK095461,AK290425,AK314265,BC096265,BC096266,BC096267,BC096268 AAF21453,O95497,NP_004657,CAB40075,EAW48020,AAY88742,CAA10568,BAF83114,BAG36929,AAH96265,AAH96266,AAH96267,AAH96268 Hs.12114,Hs.720659 HDLCQ8|MGC116930|MGC116931|MGC116932|MGC116933|Tiff66 pantetheinase|pantetheine hydrolase|vanin-1|vannin 1|vascular non-inflammatory molecule 1 protein-coding 1353663 VNN2 vanin 2 This gene product is a member of the Vanin family of proteins which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] 1580863 11491533,9790769,18805469,18095154,17543284,16335952,15489334,14748512,14574404,12967480,12777063,12749849,12477932,12056825,11200068,10201959 8875 NR_034173,NR_034174,NR_034175,NM_078488,NM_004665,AL032821,CH471051,DQ249347,AB026705,AB435062,AB435063,AB435064,AB435065,AJ132100,AK290908,AK292125,AK298719,BC064641,BC126145,BC126147,BC144064,CR609799,D89974 NP_511043,NP_004656,CAB40076,EAW48015,EAW48016,ABB72673,BAB61019,BAG30934,BAG30935,BAG30936,BAG30937,CAA10569,BAF83597,BAF84814,BAG60874,AAI26146,AAI26148,BAA82525,O95498,ADR83036,ADR83203 Hs.293130 FOAP-4|GPI-80 GPI-80 variant protein 1|GPI-80 variant protein 2|GPI-80 variant protein 3|GPI-80 variant protein 4|Vannin 2|glycosylphosphatidyl inositol-anchored protein GPI-80|pantetheinase|protein FOAP-4|vanin-2|vascular non-inflammatory molecule 2 protein-coding 1351839 VNN3 vanin 3 This gene product is a member of the Vanin family of proteins which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a secreted molecule whose exact function is not known. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Several transcript variants encoding different isoforms have been described for this gene. 1580863 19932582,11491533,14574404,12477932,10501839,16344560,18805469,19322213 55350 AL032821,CH471051,DQ220706,AA461622,AB435052,AB435053,AB435054,AB435055,AB435056,AB435057,AB435058,AB435059,AB435060,AB435061,AJ238982,AK075110,AK314708,BC104416,BC104417,BC113022,BC113023,BC148317,NR_028290,NR_028291,DA670661 EAW48017,EAW48018,EAW48019,ABA60895,BAG30924,BAG30925,BAG30926,BAG30927,BAG30928,BAG30929,BAG30930,BAG30931,BAG30932,BAG30933,CAB76824,BAG37255,AAI04417,AAI04418,AAI13023,AAI13024,AAI48318,A0AUL5,Q9NY84 Hs.183656 HSA238982|MGC171203|PAGEL-beta|PAGEL-eta|PAGEL-zeta pseudo 1349344 VP variegate porphyria 1605417 VPRBP Vpr (HIV-1) binding protein 15342556,16949367,19615732,20178741,19029839,18606781,18332868,17626091,17620334,17609381,17314515,16888644,14702039,12477932,12111997,11223251,9872452,20870715,20562859,8195203,20347598 9730 BP222559,CR986856,NM_001171904,NM_014703,AC092037,CH471055,AB018343,AF061935,AF086402,AK023239,AL080145,BC022792,BC110371,AC233756 NP_001165375,NP_055518,EAW65140,EAW65141,EAW65142,EAW65143,BAA34520,AAG27134,BAG51173,CAB45738,AAH22792,AAI10372,Q9Y4B6 Hs.716623 DCAF1|KIAA0800|MGC102804 DDB1 and CUL4 associated factor 1|DDB1- and CUL4-associated factor 1|HIV-1 Vpr-binding protein|OTTHUMP00000222417|Vpr-binding protein|protein VPRBP|vpr-interacting protein protein-coding 1347336 VPREB1 pre-B lymphocyte 1 CD179a (VpreB) is a 126 aa-long polypeptide with apparent MW of 16-18 kDa. It is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. CD179a has an Ig V domain-like structure, but lacks the last beta-strand (beta7) of a typical V domain. Instead, it has a carboxyl terminal end that shows no sequence homologies to any other proteins. CD179a associates non-covalently with CD179b (lambda5 or lambda-like) carrying an Ig C domain-like structure to form an Ig light chain-like structure, which is called the surrogate light chain or pseudo light chain. In this complex, the incomplete V domain of CD179a appears to be complemented by the extra beta7 strand of CD179b. On the surface of early preB cells, CD179a/CD179b surrogate light chain is disulfide-linked to membrane-bound Ig mu heavy chain in association with a signal transducer CD79a/CD79b heterodimer to form a B cell receptor-like structure, so-called preB cell receptor (preBCR). Though no CD179a-related human disease or pathology has been reported yet, the deficiency of other components of preB cell receptor such as CD179b, Ig mu heavy chain and CD79a has been shown to result in severe impairment of B cell development and agammaglobulinemia in human. PreBCR transduces signals for: 1) cellular proliferation, differentiation from the proB cell to preB cell stage, 2) allelic exclusion at the Ig heavy chain gene locus, and 3) promotion of Ig light chain gene rearrangements. Thus, preBCR functions as a checkpoint in early B cell development to monitor the production of Ig mu heavy chain through a functional rearrangement of Ig heavy chain gene as well as the potency of Ig mu heavy chain to associate with Ig light chain. [provided by RefSeq] 1580863 17474147,20237496,16818733,15461802,12477932,12271131,11994467,11564802,9074928,9058786,8020565,7961773,7935499,3258819,3139558,2117639 7441 NM_007128,NG_000002,CH471095,D86992,D88270,M34927,S74019,BC017922,CR456609 NP_009059,EAW59498,BAA19987,BAA20030,AAA61292,AAB32118,CAG30495,P12018,AAI52787,CAK54636,CAK54935 Hs.247979 IGI|IGVPB|VPREB CD179 antigen-like family member A|CD179a|OTTHUMP00000199011|OTTHUMP00000199012|immunoglobulin iota chain|v(pre)B protein protein-coding 1315630 VPREB3 pre-B lymphocyte 3 The protein encoded by this gene is the human homolog of the mouse VpreB3 (8HS20) protein, and is specifically expressed in cell lines representative of all stages of B-cell differentiation. It is also related to VPREB1 and other members of the immunoglobulin supergene family. This protein associates with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. The precise function of the protein is not known, but it may contribute to mu chain transport in pre-B cells. [provided by RefSeq] 1580863 10702669,18029348,15757909,15489334,15461802,14670953,12975309,12477932,8166770,7961773 29802 NM_013378,AB050772,AP000348,CH471095,AF163825,AK312098,AY359000,BC020666,BQ899182,CR456610 CAK54637,NP_037510,BAB83034,EAW59598,AAF09451,BAG35034,AAQ89359,AAH20666,CAG30496,Q9UKI3,CAK54936,ABM84032,ABM87378 Hs.136713 8HS20|N27C7-2 pre-B lymphocyte gene 3|pre-B lymphocyte protein 3 protein-coding 1317575 VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq] 1580863 19913121,20628086,15231747,15498874,15489334,14702039,14623309,12477932,11382755,11250079,9373149,8125298,16169070,16203730,19549727,16996030,18552835,19109425 55823 NM_021729,AP003392,CH471065,AB027508,AF258558,AF308800,AK023279,AK026012,AK056701,AK223158,AK302973,AL834218,BC012051,BC065563,CR592403 NP_068375,EAW67444,EAW67445,EAW67446,BAA95163,AAG23761,AAG34677,BAB15320,BAG51790,BAD96878,BAH13865,CAH56401,AAH12051,AAH65563,Q53FX3,Q658K0,Q9H270 Hs.234282 END1|PEP5|RNF108|hVPS11 RING finger protein 108|vacuolar protein sorting protein 11|vacuolar protein sorting-associated protein 11 homolog protein-coding 1312307 VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq] 1599747 20379614,9382101,17474147,11381253,11381254,17998451,17673232,15918062,15498460,15489334,15164053,15146197,14702039,12671946,12477932,10737800,10231032 1599747 23230 NM_033305,NM_001018037,NM_015186,NM_001018038,NG_008931,AL158159,AL353710,AL359204,CH471089,AB023203,AB054005,AF337532,AJ608769,AJ626859,AK000273,AK022967,AK027023,AK124024,AW303378,BC020576,BC041852,BF801459,BI828209,BQ011213,CB104862,CD109338,CN348731,EB387114 NP_150648,NP_001018047,NP_056001,NP_001018048,CAI40935,CAI40936,CAI40938,CAH74105,CAH74106,CAI39537,CAI39538,CAI39539,EAW62597,EAW62598,EAW62599,EAW62600,EAW62601,EAW62602,BAA76830,BAB59128,AAK61861,CAE75581,CAF25186,BAB14337,BAG53993,AAH20576,AAH41852,Q96RL7,AAI72755 Hs.459790,Hs.662256 CHAC|CHOREIN|FLJ42030|KIAA0986 chorea-acanthocytosis protein|vacuolar protein sorting 13A|vacuolar protein sorting-associated protein 13A protein-coding 1317598 VPS13B vacuolar protein sorting 13 homolog B (yeast) This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] 1357205,1580863 19320733,19006247,18655112,17990063,17081983,15498460,15154116,15141358,14702039,12730828,12477932,9628581,9373149,9359041,20656880,8125298,7920642,19913121,20628086,19533689,19680589 1357205 157680 NM_017890,NM_015243,NM_181661,NG_007098,AC018442,AC023933,AC026827,AC104986,AC105195,AC105328,AC107909,AP004289,AP004290,CH471060,AB011104,AJ608772,AJ608773,AK000590,AK091431,AK223122,AY223814,AY223815,AY223816,AY223817,NM_152564,AY223818,BC020813,BC033121,BC094749,BC132976,BC132978,BC144379,BX098890,BX647561,BX648610,CA447487,CR592649,CR624774 NP_689777,NP_060360,NP_056058,NP_858047,EAW91786,EAW91787,EAW91788,BAA25458,CAE75584,CAE75585,BAA91275,BAC03664,BAD96842,AAP41102,AAP41103,AAP41104,AAP41106,AAH20813,AAH33121,Q53G09,Q7Z7G8,Q8N509,Q8WW67,AAP41105 Hs.191540 CHS1|COH1|DKFZp313I0811|KIAA0532 Cohen syndrome 1|cohen syndrome 1|cohen syndrome protein 1|vacuolar protein sorting 13B|vacuolar protein sorting-associated protein 13B protein-coding 1348377 VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) 17081983,15498460,15489334,14702039,12477932,10718198,20081857 54832 AC104590,CH471082,AC009554,AB037842,AJ608770,AJ608771,AJ626860,AJ626861,AK000143,AK001243,AK025014,AK025364,AK123851,AK128650,AK304408,AK307518,AL833377,BC069387,BX648470,BX648766,CR936716,NM_017684,NM_020821,NM_018080,NM_001018088,H05069,NG_027782 EAW77599,NP_001018098,EAW77600,EAW77601,EAW77603,EAW77604,EAW77605,EAW77606,EAW77607,BAA92659,CAE75582,CAE75583,CAF25187,CAF25188,BAA90972,BAG53972,BAC87549,BAG65241,AAH69387,Q6ZQY1,Q709C8,EAW77602,NP_060154,NP_065872,NP_060550 Hs.511668 DKFZp686E0570|FLJ21361 vacuolar protein sorting 13C|vacuolar protein sorting 13c (yeast)|vacuolar protein sorting-associated protein 13C protein-coding 1318152 VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq] 16710414,15498460,15489334,14702039,12477932,12421765,9455484,9110174,8619474,20379614,20610895 55187 NM_015378,NM_018156,AL031276,AL031296,AL109757,BX682532,BX784395,BX784396,CH471130,AB007922,AJ608774,AJ608775,AK001481,AK026719,AK057675,AK074350,AK125118,AK295882,AK304850,AL162331,AL833079,AL833320,BC025329,BC028115,BC051804,BQ883441,BX641035,AI290874,AF052104 NP_056193,NP_060626,CAI19222,CAI19223,CAI23163,CAI23164,CAI22115,CAI22116,CAI23590,CAI23591,CAI19411,CAI19412,CAI19413,CAI19414,EAW71737,EAW71738,EAW71739,BAA32298,CAE75586,CAE75587,BAC86054,BAG58678,BAH14269,CAB82724,AAH28115,AAH51804,CAE46021,Q5THJ4 Hs.439381 FLJ23066 OTTHUMP00000215031|vacuolar protein sorting 13D|vacuolar protein sorting 13d (yeast)|vacuolar protein sorting-associated protein 13D protein-coding 1345721 VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15489334,14702039,12477932,11780052,11382755,11250079,16203730,18552835,19109425 64601 NM_022575,NM_080413,AL161656,CH471133,AF308801,AK055787,AL834401,BC012422,BC021291,BC030571,BC044662,BC064406,BC073959,BC126431,CR608979,CR626842,CR608865 NP_072097,NP_536338,CAC21465,CAI12120,CAI12121,CAI12122,CAI12123,EAX10564,EAX10565,EAX10566,AAG34678,BAB71013,CAD39063,AAH12422,AAH21291,AAH64406,AAH73959,AAI26432,Q5JUA8,Q5JUA9,Q5JUB0,Q6GMQ7,Q9H269 Hs.269577 hVPS16 vacuolar protein sorting 16 (yeast)|vacuolar protein sorting 16 homolog (S. cerevisiae)|vacuolar protein sorting 16 homolog A (S. cerevisiae)|vacuolar protein sorting protein 16|vacuolar protein sorting-associated protein 16 homolog protein-coding 1323077 VPS18 vacuolar protein sorting 18 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. 1580863 20562859,17353931,17081983,16996030,16203730,15489334,14623309,12477932,11382755,11250079,10819331,18552835,18799622,19109425 57617 AB040908,AF308802,AL713725,BC001513,NM_020857,AC025166,CH471125 EAW92464,EAW92465,BAA95999,AAG34679,CAD28515,AAH01513,Q9P253,ABM83678,ABM86974,NP_065908,EAW92461,EAW92462,EAW92463 Hs.23876 KIAA1475|PEP3 hVPS18|vacuolar protein sorting protein 18|vacuolar protein sorting-associated protein 18 homolog protein-coding 1351348 VPS24 vacuolar protein sorting 24 homolog (S. cerevisiae) This gene encodes a protein that acts in the sorting of transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1299526 14702039,18395747,20805225,17159328,19525971,19615732,16344560,18687924,17711858,17686835,17331679,17261583,17146056,17081983,16730941,16554368,16302002,15815621,15707591,15489334,15231748,14519844,14505570,14505569,12878588,12477932,12194857,11549700,10810093,12775420,15632132,16760479 1299526 51652 AK095433,BU192410,DA046087,NM_001193517,NR_036454,DA290886,NM_001005753,NM_016079,AC015971,AC068288,CH471053,AF151907,AF219226,AK025046,AK025260,AK129502,AK290725,AK312353,AK315835,AY364249,BC004419,BG705423,BI562428,CR606230 NP_001180446,NP_001005753,NP_057163,AAX93078,AAY24211,EAW99448,EAW99449,EAW99450,EAW99451,EAW99452,AAD34144,AAF26737,BAF83414,BAG35273,BAF98726,AAQ76808,AAH04419,Q3ZTS9,Q9Y3E7,ABZ92336 Hs.591582 CGI-149|CHMP3|FLJ38114|NEDF 25.1 protein|CHMP family, member 3|OTTHUMP00000203326|charged multivesicular body protein 3|chromatin-modifying protein 3|hVps24|neuroendocrine differentiation factor|vacuolar protein sorting 24 (yeast)|vacuolar protein sorting-associated protein 24 protein-coding 1603949 VPS25 vacuolar protein sorting 25 homolog (S. cerevisiae) VPS25, VPS36 (MIM 610903), and SNF8 (MIM 610904) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. VPS25, VPS36, and SNF8 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM] 16371348,16189514,15755741,15511219,15489334,15007060,14519844,14505570,12477932,11278625,19686684,17207965,19913121,20628086 84313 NM_032353,AC100793,CH471152,AB014763,AK312092,BC006282,CR611687,CR615047,CR620674 NP_115729,EAW60879,EAW60880,BAB87804,BAG35028,AAH06282,Q9BRG1,ADQ32783 Hs.500165 DERP9|EAP20|FAP20|MGC10540 ELL-associated protein of 20 kDa|ESCRT-II complex subunit VPS25|dermal papilla-derived protein 9|hVps25|vacuolar protein-sorting-associated protein 25 protein-coding 1343417 VPS26A vacuolar protein sorting 26 homolog A (S. pombe) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 1298632,1580863 19531583,11102511,17101778,16784798,16732284,16407403,16315276,16190980,15489334,15282546,15164054,14702039,12477932,11598206,11042152,9653160,1638986,15247922 1298632 9559 NM_004896,NM_001035260,AL442635,AL596223,CH471083,AF054179,AF175266,AK022992,AK290536,AK297142,AK309021,AK315496,AL110166,BC022505,BQ048905,BX647725,BX649092,CD358963,CR617214,CR618440 NP_004887,NP_001030337,CAH71779,CAH71501,EAW54311,EAW54312,EAW54313,AAC39912,AAF89954,BAB14351,BAF83225,BAG59643,BAG37880,AAH22505,O75436,ACE87653,ACE86963 Hs.499925 FLJ12930|HB58|Hbeta58|PEP8A|VPS26 OTTHUMP00000019721|hVPS26|vacuolar protein sorting 26 (yeast)|vacuolar protein sorting-associated protein 26A|vesicle protein sorting 26A protein-coding 1603929 VPS26B vacuolar protein sorting 26 homolog B (S. pombe) 11102511,16190980,15489334,12477932 112936 CR610089,CR619509,CR621034,CR625768,NM_052875,AP000859,CH471065,AF452718,BC007799,BC009747,BC013255,BC014128,BC098386,CD369199 Q4G0F5,ABW03822,ABW03510,NP_443107,EAW67825,EAW67826,EAW67827,AAP13353,AAH09747,AAH14128,AAH98386 Hs.334684 MGC10485|Pep8b vacuolar protein sorting-associated protein 26B|vesicle protein sorting 26B protein-coding 1315210 VPS28 vacuolar protein sorting 28 homolog (S. cerevisiae) This gene encodes a protein involved in endosomal sorting of cell surface receptors via a multivesicular body/late endosome pathway. The encoded protein is one of the three subunits of the ESCRT-I complex (endosomal complexes required for transport) involved in the sorting of ubiquitinated proteins. The two other subunits of ESCRT-I are vesicular protein sorting 23, also known as tumor susceptibility gene 101 (TSG101), and vesicular protein sorting 37. Two alternative transcripts encoding different isoforms have been described. Additional alternative transcripts may exist but the proteins encoded by these transcripts have not been verified experimentally. 1580863 20708039,12892785,12588984,16169070,18077552,19060904,19524996,11134028,15509564,15489334,15240819,14702039,12857913,12663786,12477932,11916981,11591653,15218037,16189514,14519844,16778200 51160 NM_183057,NM_016208,AF205589,CH471162,AF182844,AF316887,AF445417,AK026865,AK090942,AK091979,AK310062,BC006485,BC019321,BC050438,BC050712,BC050713,BU658837,CR591710,CR592521,CR593237,CR600507,CR602682,CR603930,CR610765,CR615683,AC233992 NP_898880,NP_057292,EAW82094,EAW82095,EAW82096,EAW82097,EAW82098,EAW82099,EAW82100,AAF00499,AAK00314,AAQ04641,AAH06485,AAH19321,AAH50713,Q548N1,Q86VK0,Q9UK41 Hs.418175 MGC60323 ESCRT-I complex subunit VPS28|H-Vps28|vacuolar protein sorting 28 (yeast)|vacuolar protein sorting-associated protein 28 homolog|yeast class E protein Vps28p homolog protein-coding 1318040 VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms, and usage of multiple polyadenylation sites have been found for this gene. [provided by RefSeq] 1580863 17891154,17101778,16737443,16381901,15788412,15489336,15489334,15282546,15247922,12477932,11256614,11230166,11102511,11076863,11062004,9700157,16169070,19531583 51699 NM_016226,NM_057180,AC002350,CH471054,AF086379,AF168716,AF175264,AF193795,AF201936,AF201946,AK000499,AK129767,AK130510,AL136614,BC000880,BC015095,BC017964,BC032462,BC095446,BG707325,CR457182,CR533468,CR594493,CR612363,AL832866,AB578890 NP_057310,NP_476528,EAW97918,EAW97919,AAF87318,AAF89952,AAF04596,AAF86872,AAF17238,CAB66549,AAH00880,AAH15095,AAH32462,AAH95446,CAG33463,CAG38499,Q5JPE4,Q8N0S8,Q9UBQ0,CAI46196,CAL37713 Hs.600114 DC15|DC7|DKFZp564F0223|FLJ20492|PEP11 PEP11 homolog|hVPS29|retromer protein|vacuolar protein sorting 29 (yeast)|vacuolar protein sorting-associated protein 29|vacuolar sorting protein VPS29/PEP11|vesicle protein sorting 29|x 007 protein protein-coding 731826 VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq] 1580863 15790593,15489334,15342556,14702039,12538872,12477932,11382755,11250079,8996080,16203730,20562859,19109425 65082 NM_022916,AC048338,CH471054,AF439857,AK026048,AK026840,AK315545,BC016617,BI551252,BP199163,CR600692,CR615295 NP_075067,EAW98319,AAL33577,BAB15336,BAB15570,BAG37923,AAH16617,Q96AX1,Q9H6C4,ABW03704 Hs.592009 FLJ22395|FLJ23187 hVPS33A|vacuolar protein sorting 33A|vacuolar protein sorting protein 33a|vacuolar protein sorting-associated protein 33A protein-coding 732726 VPS33B vacuolar protein sorting 33 homolog B (yeast) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq] 730029,1580863,1599749 15790593,19274792,18474358,18367154,18347289,16344560,16189514,16123220,15489334,15052268,14702039,12477932,11250079,10894945,8996080,18552835,19109425 730029,1599749 26276 NM_018668,NG_012162,AC068831,CH471101,CQ783712,AF201694,AF308803,AJ713428,AK027754,AK074863,AK293688,AK300608,AK308480,AK315721,AL357472,BC016445,CR604260,DA020491 NP_061138,EAX02139,EAX02140,CAF86824,AAF91174,AAG34680,BAB55345,BAG52018,BAH11570,BAH13313,CAB93109,AAH16445,Q9H267 Hs.459366 FLJ14848 hVPS33B|vacuolar protein sorting 33B|vacuolar protein sorting homolog r-vps33b|vacuolar protein sorting-associated protein 33B protein-coding 1350372 VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq] 1300445,1580863 11102511,11256614,17891154,17101778,16381901,16344560,15489336,15489334,15282546,15247922,14702039,12477932,11230166,11112353,11076863,11062004,9373149,9110174,8889548,8619474,8125298,17916227,17353931,20619655,16190980,17215244,19531583,19553991,19615732,20164305 1300445 55737 NM_018206,AC007225,AC012186,CH471092,AF086051,AF175265,AF183418,AF186382,AF191298,AK000395,AK001614,AK023650,AK025774,AK223218,AL136888,AL512769,AY007112,BC002414,BC010362,BC041367,BC093036,BM971213,BQ574179,CR602924,CR618276,CR626386,DB049686,BX647213 NP_060676,EAW82683,EAW82684,AAF89953,AAG09687,AAG40619,AAF02778,BAA91137,BAA91790,BAB14626,BAD96938,CAB66822,CAC21686,AAG01989,AAH02414,AAH10362,AAH93036,Q53FR4,Q5HYM2,Q96QK1,CAI46268,CAL38615 Hs.454528 DKFZp434E1211|DKFZp434P1672|FLJ10752|FLJ13588|FLJ20388|MEM3 hVPS35|maternal-embryonic 3|vacuolar protein sorting-associated protein 35|vesicle protein sorting 35 protein-coding 1320260 VPS36 vacuolar protein sorting 36 homolog (S. cerevisiae) VPS36, VPS22 (SNF8; MIM 610904), and VPS25 (MIM 610907) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. VPS36, VPS22, and VPS25 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM] 17057716,16371348,15755741,15489334,15057823,14702039,14519844,14505570,12477932,11278625,10810093 51028 NM_016075,AL359513,BX537689,CH471274,AB208956,AF151903,AI352102,AK022911,AK023182,AK289740,BC037279,BC050439,BG400860,BX647847,CR590821,CR618767,CR933653 NP_057159,CAH71658,EAW55895,BAD92193,AAD34140,BAB14451,BAF82429,AAH37279,AAH50439,CAI45953,Q59H03,Q86VN1 Hs.109520 C13orf9|CGI-145|DKFZp781E0871|EAP45 ELL-associated protein of 45 kDa|ELL-associated protein, 45 kDa|ESCRT-II complex subunit VPS36|chromosome 13 open reading frame 9|vacuolar protein-sorting-associated protein 36 protein-coding 1604528 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) 14702039,14623289,12477932,9875212,18029348,17903302,15509564,15240819,15218037,17207965 137492 NM_152415,NM_001145152,AC091050,AC124074,AC142097,CH471080,AF547097,AK057204,AK090607,AK124607,AY033079,BC022363,BC067754,CR600138 NP_689628,NP_001138624,EAW63817,EAW63818,EAW63819,AAQ12067,BAB71381,BAG54057,AAK54349,AAH22363,AAH67754,Q8NEZ2,ADQ31942 Hs.343873 FLJ32642|FLJ42616|HCRP1|PQBP2 ESCRT-I complex subunit VPS37A|hVps37A|hepatocellular carcinoma related protein 1|hepatocellular carcinoma-related protein 1|polyglutamine binding protein 2|vacuolar protein sorting 37A|vacuolar protein sorting-associated protein 37A protein-coding 1605953 VPS37B vacuolar protein sorting 37 homolog B (S. cerevisiae) 15218037,14702039,12477932,15240819,20379614 79720 NM_024667,AC027290,CH471054,AK022812,BC005882 NP_078943,EAW98348,EAW98349,EAW98350,EAW98351,BAB14255,AAH05882,Q9H9H4 Hs.507162 FLJ12750 ESCRT-I complex subunit VPS37B|hVps37B|vacuolar protein sorting 37B|vacuolar protein sorting-associated protein 37B protein-coding 1605989 VPS37C vacuolar protein sorting 37 homolog C (S. cerevisiae) VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM] 19773279,20379614,15509564,14702039,12477932 55048 NM_017966,AP000437,CH471076,AK000854,AK097326,AK302384,AL834261,BC005805,BC062604,BC141827,BC142702,BM450171,CR457250,CR621619 NP_060436,EAW73925,EAW73926,EAW73927,BAA91399,BAG63701,CAD38936,AAI41828,AAI42703,CAG33531,A5D8V6,Q6IAA5,Q9NWI1 Hs.523715 FLJ20847 ESCRT-I complex subunit VPS37C|hVps37C|vacuolar protein sorting 37C|vacuolar protein sorting-associated protein 37C protein-coding 1349183 VPS37D vacuolar protein sorting 37 homolog D (S. cerevisiae) 15218037,12477932 155382 NM_001077621,AC073846,CH471200,AY081952,BC029730,BC064621,CR594226,CR596679 NP_001071089,EAW69659,AAL91075,AAH64621,Q86XT2,AAI56355,AAI57107 Hs.647037 MGC35352|WBSCR24 ESCRT-I complex subunit VPS37D|Williams Beuren syndrome chromosome region 24|Williams-Beuren syndrome critical region protein 24|vacuolar protein sorting 37D|vacuolar protein sorting-associated protein 37D|williams beuren syndrome chromosome region 24|williams-Beuren syndrome chromosomal region 24 protein|williams-Beuren syndrome region protein 24 protein-coding 1312537 VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. [provided by RefSeq] 1580863 16381901,15489336,15489334,12941698,12477932,12168954,11448994,11230166,11076863,9872452,19913121,20628086,19109425,20363736 23339 NM_015289,AC036103,AF334400,CH471125,AB018313,AF280814,AF281052,AK025334,AK074193,AK128403,AL117456,BC015817,BC068559,BX537404,CR598238 NP_056104,AAK58862,EAW92535,EAW92536,EAW92537,EAW92538,EAW92539,BAA34490,AAK72222,AAQ05978,BAG54672,AAH15817,AAH68559,CAD97646,Q96JC1,CAL37416,CAL38644 Hs.88025 FLJ21681|FLJ46546|KIAA0770|TLP|VAM6|hVam6p TRAP1-like protein|vam6/Vps39-like protein protein-coding 1353898 VPS41 vacuolar protein sorting 41 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq] 1580863 12853948,12477932,11412045,10559961,9847074,9159129,7596406,19690564,19109425,19734545,19850127,20379614 27072 NM_014396,AC004850,AC005247,CH236951,CH471073,AK026848,AK074325,AK299143,AK314556,BC044851,BX648347,CR618313,L40398,U87281,U87309,NM_080631 Q75MS2,Q75MX9,Q9H348,NP_542198,NP_055211,AAQ96883,AAS00372,AAS00373,EAW94113,EAW94114,BAG61195,BAG37141,AAH44851,AAC42004,AAB47758,AAB47563,P49754,Q75MS1,ADR82667 Hs.592184 HVPS41|HVSP41|hVps41p S53|vacuolar assembly protein 41|vacuolar protein sorting-associated protein 41 homolog protein-coding 732754 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. [provided by RefSeq] 730029,1580863 10404641,8996080,16344560,15489334,14702039,14623309,12477932,12110575,11788822,11062261,9373149,9045632,8125298,19931244 730029 11311 U35246,AL358073,CH471121,AF165513,AJ133421,AK023170,AK223214,AK293555,AK295529,AK298786,AK298835,AK301994,AK307949,AY453586,BC012932,BC028382,CR743023,DA122826,NM_007259 AAC50931,A0AR27,Q53FR8,Q5T4Q0,Q9NRW7,NP_009190,CAI14265,CAI14266,EAW53584,EAW53585,AAF86643,CAB40417,BAB14443,BAD96934,BAH11533,BAH12096,BAH12870,BAH12880,BAH13603,AAS49034,AAH12932,AAH28382 Hs.443750 H1|H1VPS45|VPS45A|VPS45B|VPS54A|VSP45|VSP45A hlVps45|leucocyte vacuolar protein sorting 45|vacuolar protein sorting 45A|vacuolar protein sorting-associated protein 45|vesicular transport protein rvps45 protein-coding 732193 VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq] 16757520,18621683,17913808,17601348,17553870,16841193,16730941,15632132,15489334,15075231,14505570,14505569,12860994,12594041,20621136,16174732,17928862,18606141,17853893,11559748,11563910,12477932,12417987,11937716,11931639,10931946,10393249,19524996,19615732,19640981,19828764,20339000,20616062 27183 NM_013245,AC026464,AF282903,CH471092,AF112215,AF132747,AF155740,AF159063,AF255952,AK000200,AK025850,AK315026,AL133634,BC013021,BC047932,BC035121,CR603988 NP_037377,AAG01470,EAW83261,EAW83262,EAW83263,EAW83264,AAF17203,AAL75948,AAD42971,AAD49227,AAK52408,BAA91005,BAG37514,CAB63758,AAH35121,AAH47932,Q49AN7,Q9NXK5,Q9UF30,Q9UN37,ACE86581 Hs.128420 FLJ22197|SKD1|SKD1A|SKD2|VPS4|VPS4-1 SKD1-homolog|hVPS4|vacuolar protein sorting factor 4A|vacuolar protein sorting-associated protein 4A|vacuolar sorting protein 4 protein-coding 1314314 VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq] 1580863 19524996,19615732,19690890,20621136,10637304,16174732,17928862,15024011,16757520,18796009,17601348,17553870,17081983,17014699,16344560,16193069,16018968,16004603,15489334,15173323,14505570,14505569,12594041,12477932,11563910,11559748,11042152,10393249,9653160,8082782,17207965,20616062 9525 NM_004869,AC036176,AF282904,CH471096,AF038960,AF195514,AK290932,AK291253,AK308892,AK309322,AK311041,AY232629,BC009692,BC039574,DA306069 NP_004860,AAG01471,EAW63143,EAW63144,AAC39874,AAG33022,BAF83621,BAF83942,AAP59551,AAH09692,AAH39574,O75351,Q6PJZ4,ACE87266,ACE86582,ADQ33040 Hs.126550 MIG1|SKD1|SKD1B|VPS4-2 cell migration-inducing 1|cell migration-inducing gene 1 protein|suppressor of K(+) transport growth defect 1|suppressor of K+ transport defect 1|vacuolar protein sorting 4B|vacuolar protein sorting 4b (yeast)|vacuolar protein sorting-associated protein 4B protein-coding 1604402 VPS52 vacuolar protein sorting 52 homolog (S. cerevisiae) This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. [provided by RefSeq] 19620288,15878329,15489334,14702039,14574404,12477932,12366783,12210484,10452889,9790748,9373149,8125298,18367545,19851445 6293 AJ223319,AL031228,AL645940,AL713971,AL844527,BX248408,CH471081,NM_022553,CR759786,CR759817,CR762434,AJ006026,AK001725,AK093057,AK222867,AK297935,AK299563,AK300308,AK300430,AK304080,AL390171,AL559461,AW150166,BC032108,BC040114,BU167150,CR610487,CR613858,CR547129 NP_072047,CAA11260,CAI95618,CAI95619,CAI18075,CAI17655,CAI41847,CAM26258,EAX03686,EAX03687,EAX03688,EAX03689,EAX03690,EAX03691,EAX03692,EAX03693,CAQ08250,CAQ08020,CAQ06872,CAA06821,BAG50969,BAD96587,BAG60251,BAG61506,BAG62061,BAG62156,BAG64987,CAB99099,AAH32108,AAH40114,O60838,Q7LA74,Q8N1B4 Hs.480356 ARE1|DKFZp547I194|RP5-1033B10|SAC2|SACM2L|dJ1033B10.5 SAC2 suppressor of actin mutations 2-like protein|vacuolar protein sorting-associated protein 52 homolog protein-coding 1605366 VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae) This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq] 18367545,17666431,16953216,15878329,15498874,15489334,14702039,12621583,12565177,12477932,8889548,19620288 55275 NM_001128159,AC015853,AC027455,CH471108,AF246287,AF318335,AK001841,AK091388,AK092532,AK290343,AL701573,AY444797,BC006116,BC029560,BC040223,CB851054,EU021218,EU434648,EU434649,EU434650,NM_018289,AK123107,AK299543,AF085927,AK056323,AK057942,BC039432 NP_060759,NP_001121631,EAW90658,EAW90659,EAW90660,EAW90661,EAW90662,AAK27973,AAL55842,BAA91935,BAG52568,BAF83032,AAS20944,AAH06116,AAH29560,ABW03005,ACA21423,ACA21424,ACA21425,Q5VIR6,Q8NCR1,BAH13062 Hs.461819 FLJ10979|FLJ41112|FLJ61757|HCCS1|MGC39512|hVps53L|pp13624 vacuolar protein sorting-associated protein 53 homolog protein-coding 1350552 VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae) This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq] 619586,1580863 18574757,15878329,15489334,14702039,12477932,12174196,12039048,19620288,18367545,20379614,20615984 619586 51542 NM_016516,NM_001005739,AC092588,CH471053,AF102177,AK002205,AK025545,AK094019,AK124436,AK292669,AK292889,AL137604,AL359939,AL514510,AW452246,AY444798,BC030275,BC041868,CR749701 NP_057600,NP_001005739,EAW99952,AAF37319,BAA92134,BAF85358,BAF85578,CAB70837,CAB95772,AAS20945,AAH30275,AAH41868,CAH18479,Q9P1Q0,ABM82006,ABM85188 Hs.48499 HCC8|SLP-8p|VPS54L|hVps54L hepatocellular carcinoma protein 8|tumor antigen HOM-HCC-8|tumor antigen SLP-8p|vacuolar protein sorting 54 (yeast)|vacuolar protein sorting-associated protein 54 protein-coding 1314551 VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae) 1580863 7702631,17567994,16710414,15647280,15489334,12477932,9373149,8125298,16189514,14966270 6944 NM_005997,AL592424,CH471121,AK222935,AK222939,AK225130,AK297565,AK310045,BC003151,BT019356,BT019357,CR598351,CR599603,CR599798,CR608392,CR621971,CR623974,D43642,DQ655941,DQ656047 NP_005988,CAI16385,CAO72042,EAW53462,BAD96655,BAD96659,BAG59957,AAH03151,AAV38163,AAV38164,BAA07757,Q15906,ABM83866,ABM87188 Hs.2430 CFL1|Swc2|TCFL1|YL-1|YL1 protein YL-1|transcription factor-like 1|transcription factor-like 1 (YL-1)|vacuolar protein sorting-associated protein 72 homolog protein-coding 1603690 VPS8 vacuolar protein sorting 8 homolog (S. cerevisiae) 16344560,15489334,15231748,14702039,12477932,9872452,20379614 23355 NM_015303,AC025573,AC107294,AC117436,CH471052,AB018347,AK022945,AK056661,AK292423,AK308728,AK309244,AL833838,BC001001,BC036005,BC140768,BI914013,BX647915,DA218768,NM_001009921,DA340096 NP_001009921,NP_056118,EAW78233,EAW78234,BAA34524,BAB14322,BAG51778,BAF85112,CAD38698,AAH01001,AAI40769,CAH56195,Q8N3P4 Hs.269263 FLJ32099|KIAA0804 OTTHUMP00000210436|vacuolar protein sorting-associated protein 8 homolog protein-coding 1314472 VRK1 vaccinia related kinase 1 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq] 1580863 19646678,10951572,15105425,15378002,18617507,19103756,18713830,18612383,18286197,17951261,17938195,17689819,17617371,16782868,16547155,15635413,15542844,15489334,14747564,14645249,12477932,11883897,11709713,10747897,10083742,9344656,18029348 7443 NG_016293,NM_003384,AL133168,CH471061,AB000449,AK290110,BC005970,BC103761,BC112075,BC113510,BU535261,CA436761,CR608451,CR619781 NP_003375,EAW81653,EAW81654,BAA19108,BAF82799,AAI03762,AAI12076,AAI13511,Q99986 Hs.422662 MGC117401|MGC138280|MGC142070|PCH1 serine/threonine-protein kinase VRK1|vaccinia virus B1R-related kinase 1|vaccinia-related kinase 1 protein-coding 1323120 VRK2 vaccinia related kinase 2 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, leukocytes, fetal liver, and carcinomas. Its protein localizes to the endoplasmic reticulum and has been shown to phosphorylate casein and undergo autophosphorylation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 19571808,16963744,18286207,18617507,9344656,18612383,17709393,16704422,16344560,15489334,14645249,12477932,9373149,8125298,20936779,20679487 7444 BI906749,NR_036441,NM_001130480,NM_001130481,NM_001130482,NM_001130483,AC007250,AC068193,AC073215,CH471053,AB000450,AJ512204,AK058199,AK223540,AK295193,AK296611,AK311205,AY228367,AY228368,AY228369,AY228370,AY228371,AY228372,BC021663,BC027854,BC036434,CR605412,CR622767,CR624256,NM_006296,DA273734,DB227029 NP_006287,NP_001123952,NP_001123953,NP_001123954,NP_001123955,AAY15019,AAX93262,AAY14648,EAX00062,EAX00063,EAX00064,EAX00065,EAX00066,EAX00067,EAX00068,BAA19109,CAD54446,BAD97260,BAH12007,BAG59222,AAO73047,AAO73048,AAO73049,AAO73050,AAO73051,AAO73052,AAH21663,AAH27854,Q05CR6,Q53S39,Q53S77,Q53TU1,Q86Y07,ABM81858,ABM85020 Hs.631890 OTTHUMP00000201223|OTTHUMP00000201224|serine/threonine-protein kinase VRK2|vaccinia virus B1R-related kinase 2|vaccinia-related kinase 2|vaccinia-related kinase-2 protein-coding 1350616 VRK3 vaccinia related kinase 3 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq] 1580863 18617507,15489334,14645249,12477932,9373149,8125298,17353931 51231 NM_001025778,NM_016440,AC011452,CH471177,AB031052,AF514788,AK074461,AK123892,AK125747,AK225154,AK292918,AK294802,AK303010,AK303529,AK311220,AV706241,BC003546,BC023556,BC095449,BG421578,CR594746,CR596704,CR597000,CR604545,CR606658,CR609812,CR618423,CR621551 NP_001020949,NP_057524,EAW52588,EAW52589,EAW52590,EAW52591,EAW52592,BAA90769,AAP47180,BAF85607,BAG57922,BAG64141,BAG64557,AAH23556,AAH95449,Q8IV63 Hs.443330 inactive serine/threonine-protein kinase VRK3|serine/threonine-protein kinase VRK3|serine/threonine-protein pseudokinase VRK3|vaccinia-related kinase 3 protein-coding 1346794 VRK3PS vaccinia related kinase 3 pseudogene 369009 1342732 VRNI vitreoretinopathy, neovascular inflammatory 7445 1347101 VSIG1 V-set and immunoglobulin domain containing 1 737633 16405301,12477932 737633 340547 NM_182607,AL031177,AL953860,CH471120,AK292472,AK301311,AK301783,AK315846,BC043216,BK005767,BX640913,BX648658,NG_016264,NM_001170553 NP_872413,CAI43130,CAI42197,EAX02699,BAF85161,BAG62862,BAG63239,BAF98737,AAH43216,DAA05750,CAE45954,CAH56142,Q86XK7,NP_001164024 Hs.177164 1700062D20Rik|GPA34|MGC44287|dJ889N15.1 V-set and immunoglobulin domain-containing protein 1|cell surface A33 antigen|glycoprotein A34 protein-coding 3440350 VSIG10L V-set and immunoglobulin domain containing 10 like 12477932 147645 AC008750,AC063977,AF086436,BC016993,BC032383,BC049212,BC131493,CR626634,NM_001163922 AAH49212,AAI31494,NP_001157394,Q86VR7 Hs.293236 V-set and immunoglobulin domain-containing protein 10-like protein-coding 1344618 VSIG2 V-set and immunoglobulin domain containing 2 1580863 20659327,9862345,15489334,15340161,14702039,12975309,12477932 23584 NM_014312,AF061022,AP000866,CH471065,AK000460,AY358897,BC007313,BC012567 NP_055127,AAD17522,EAW67595,EAW67596,EAW67597,BAA91179,AAH07313,Q96IQ7,ABW03837,ABW03533,AAQ89256 Hs.112377 2210413P10Rik|CTH|CTXL CT-like protein|OTTHUMP00000197172|V-set and immunoglobulin domain-containing protein 2|cortical thymocyte receptor (X. laevis CTX) like|cortical thymocyte-like protein protein-coding 1354021 VSIG4 V-set and immunoglobulin domain containing 4 1580863 16530040,18029348,17051150,17016562,17016555,16882875,16303743,15489334,15342556,15340161,12975309,12477932,11997108,11004523,16009265,18727628,18752851,19797726,19914289,20399148 11326 AK297050,NM_007268,AL034397,CH471132,CQ789678,AJ132502,AK075153,AK075171,AK293215,NM_001100431,HC190740,HC190742,AK298389,AK301417,AL552873,AY358341,BC010525,BP292528,BX482258,CA310184,CA405669,CR593943,CR595142,CR595586,CR597253,CR601570,CR603367,CR603425,CR603531,CR605065,CR606647,CR607644,CR607860,CR610574,CR611365,CR613051,CR614994,CR616282,CR618957,CR620553,CR624119,CR624751,CR626818,NG_021306,NM_001184830,NM_001184831,GM881262,GM881264 NP_001093901,NP_009199,CAB46921,CAI42051,CAI42052,CAI42053,EAX05393,EAX05394,EAX05395,CAG24387,CAB51536,BAG52076,BAG56754,CBI69253,CBI69254,BAG59576,BAG60624,BAG62947,AAQ88707,AAH10525,Q9Y279,ABM82696,ABM85879,NP_001171759,NP_001171760,CAV28320,CAV28321 Hs.8904 CRIg|Z39IG Ig superfamily protein|OTTHUMP00000023441|OTTHUMP00000023442|V-set and immunoglobulin domain-containing protein 4|complement receptor of the immunoglobulin superfamily|protein Z39Ig protein-coding 1602403 VSIG6 V-set and immunoglobulin domain containing 6 388078 XM_370835,AC010760 XP_370835,A6NJ16 V-set and immunoglobulin domain containing 6 protein-coding 1605500 VSIG7 V-set and immunoglobulin domain containing 7 390531 XM_496025,AC127381 XP_496025,A6NDP1 V-set and immunoglobulin domain containing 7 protein-coding 1603819 VSIG8 V-set and immunoglobulin domain containing 8 12477932,19615732 391123 NM_001013661,AL590560,BC132893,BC132895 NP_001013683,CAH71106,AAI32894,AAI32896,Q5VU13,ADR83364 Hs.647718 V-set and immunoglobulin domain-containing protein 8 protein-coding 737420 VSNL1 visinin-like 1 This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq] 19674972,20347265,12681369,12477932,12445467,12202488,12200122,12196554,11930147,11592857,11579136,10851344,10520747,9109541,8780737,8530085,2202488,1375457,20079378,19065602,19063970,19034380,18922787,18691652,18301774,17615261,16731532,16713569,16703469,16189514,15735716,15489334 7447 AC079839,AC097377,CH471053,AB001104,AF039555,AI143139,AK308816,BC022012,BF055598,NM_003385,BI544338,CR590184,CR597497,CR603967,CR606471,CR610766,CR618380,CR621143,U14747 NP_003376,AAY24036,AAX88850,EAX00870,EAX00871,EAX00872,EAX00873,EAX00874,EAX00875,BAA86891,AAD02174,AAH22012,AAA91295,P62760,Q4ZFX3,Q53RT2,ABM81726,ABM84881 Hs.444212 HLP3|HPCAL3|HUVISL1|VILIP|VILIP-1 VLP-1|hippocalcin-like protein 3|visinin-like protein 1 protein-coding 1604181 VSTM1 V-set and transmembrane domain containing 1 15489334,15340161,12975309,12477932,11329013,20375307 284415 NM_198481,AC012314,CH471135,AI457604,AY358542,BC100942,BC100943,BG189223,BQ446114,DQ479397,FJ584316,FJ584317,FJ584318,FJ584319,FJ584320,FJ882051,FN398145 NP_940883,EAW72173,AAQ88906,AAI00943,AAI00944,ABF19807,Q6UX27,ACU00108,ACU00109,ACU00110,ACU00111,ACU00112,ACZ51446,CAZ61324 Hs.444431 MGC119160|MGC119161|SIRL1|UNQ3033 LAIR homolog|OSCAR-like transcript-1|OTTHUMP00000067382|V-set and transmembrane domain-containing protein 1|signal inhibitory receptor on leukocytes-1 protein-coding 1604199 VSTM2A V-set and transmembrane domain containing 2A 15489334,12477932,17207965 222008 NM_182546,AC069313,CH236957,CH471201,BC028404,BC045679,BI752069,BI755592,CR613464,CR617415,DN991717 NP_872352,EAL23809,EAW50952,EAW50953,EAW50954,AAH28404,Q8TAG5,ADQ32694 Hs.335933 MGC33530|VSTM2 OTTHUMP00000159589|V-set and transmembrane domain containing 2|V-set and transmembrane domain-containing protein 2A protein-coding 1626689 VSTM2B V-set and transmembrane domain containing 2B 15057824,19240061 342865 NM_001146339,AC011474 NP_001139811,A6NLU5 Hs.451618 V-set and transmembrane domain-containing protein 2B protein-coding 1313925 VSTM2L V-set and transmembrane domain containing 2 like 16713569,12477932,11780052,15489334,14702039,11553796 128434 NM_080607,AL109964,CH471077,AK056177,AL834410,BC033818,BE905791,CR619223 NP_542174,CAI42205,CAI42206,CAI42207,EAW76051,EAW76053,BAB71113,CAD39072,AAH33818,Q96N03 Hs.517029 C20orf102|dJ1118M15.2 OTTHUMP00000030947|V-set and transmembrane domain-containing protein 2-like protein protein-coding 1313832 VSX1 visual system homeobox 1 The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 1599773,1580863 20664914,10673340,19507099,19011015,18626569,18484309,18253095,18216574,17960127,17122109,16799019,16384943,15647262,15623752,15489334,15051220,12477932,11978762,11780052,10903837,8889548,19763142,19956409,20023586,20379614 1599773 30813 NG_008101,AL080312,CH471133,AF176797,AF251033,AF251034,BC126228,BC136497,BM712470,DQ854807,DQ854808,DQ854809,DQ854810,NM_199425,DQ854811,DQ854812,NM_014588 CAI18918,EAX10104,EAX10105,AAF37425,AAF99656,AAF99657,AAI26229,AAI36498,ABI23973,ABI23974,ABI23975,NP_055403,ABI23977,ABI23978,Q9NZR4,NP_955457,ABI23976,CAX15205 Hs.274264 KTCN|PPCD|PPD|RINX OTTHUMP00000205190|OTTHUMP00000205191|homeodomain protein RINX|retinal inner nuclear layer homeobox protein|transcription factor VSX1|visual system homeobox 1|visual system homeobox 1 homolog, CHX10-like protein-coding 1348218 VSX2 visual system homeobox 2 734779,1580863 18029348,18648522,18514541,18385794,17661825,16236706,15909363,15647262,15257456,12508121,12477932,11069920,10932181,9847074,1973146,20414678,20565746,19638341,19843539,20057906,20494911 734779 338917 NM_182894,AC005519,AC006349,CH471061,AY336059,BC128153,NG_013092 NP_878314,EAW81163,EAW81164,AAQ01593,AAI28154,P58304 Hs.449771 CHX10|HOX10|MCOP2|MCOPCB3|RET1 ceh-10 homeo domain containing homolog|ceh-10 homeo domain containing homolog (c. elegans)|ceh-10 homeodomain-containing homolog|homeobox protein CHX10|visual system homeobox 2 protein-coding 1312819 VTA1 Vps20-associated 1 homolog (S. cerevisiae) C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM] 16189514,15644320,15489334,15173323,14702039,12477932,11984006,11489251,11230166,11042152,9110174,8619474,21060863,16777077,20358264 51534 CR457207,CR606694,NM_016485,AL033522,CH471051,AF060225,AF141341,AF151062,AF271994,AJ420507,AK000051,AK130738,AK301376,AL136684,AY007093,BC005937,BC006989,BC013217,BC022536 CAG33488,Q5TGM0,Q9C063,Q9NP79,ABM84446,ABM87503,NP_057569,CAI21072,CAI21073,EAW47883,EAW47884,EAW47885,AAG43125,AAG49444,AAF36148,AAF76210,BAA90909,BAG62917,CAB66619,AAH05937,AAH06989,AAH22536 Hs.431367 C6orf55|DRG-1|DRG1|FLJ27228|HSPC228|LIP5|My012|SBP1 LYST-interacting protein 5|OTTHUMP00000017319|SKD1-binding protein 1|chromosome 6 open reading frame 55|dopamine-responsive gene 1 protein|homolog of mouse SKD1-binding protein 1|vacuolar protein sorting-associated protein VTA1 homolog protein-coding 1606221 VTCN1 V-set domain containing T cell activation inhibitor 1 B7H4 belongs to the B7 family (see CD80; MIM 112203) of costimulatory proteins. These proteins are expressed on the surface of antigen-presenting cells and interact with ligands (e.g., CD28; MIM 186760) on T lymphocytes.[supplied by OMIM] 19788399,19903360,19955922,20725832,19116933,18676826,18376314,17509674,17498784,17051145,16798883,16785496,16606666,16344560,15878339,15146197,14568939,12975309,12920180,12818166,12818165,12796776,12477932,9373149,8125298,20731031,20872810 79679 NM_024626,AL391476,CH471122,AK026071,AK225413,AK303466,AK310812,AY280972,AY346100,AY358352,AY442303,BC065717,BC074729,BX648021,CN259811,CR603772,DB198367,DQ103757,DQ836392 NP_078902,CAI12737,CAI12739,EAW56671,EAW56672,EAW56673,BAB15349,BAH13967,AAP37283,AAQ24206,AAQ88718,AAS13400,AAH65717,AAH74729,AAZ17406,ABI16083,Q5T2L0,Q6P097,Q7Z7D3 Hs.546434 B7-H4|B7H4|B7S1|B7X|B7h.5|FLJ22418|PRO1291|RP11-229A19.4|VCTN1 T cell costimulatory molecule B7x|T-cell costimulatory molecule B7x|V-set domain-containing T-cell activation inhibitor 1|immune costimulatory protein B7-H4 protein-coding 736863 VTI1A vesicle transport through interaction with t-SNAREs homolog 1A (yeast) 1580863 15215310,19138172,19023099,17975119,16344560,15489334,12477932,11839770,9446565,11101518,21076409,16385451,20379614 143187 NM_145206,AC022018,AL133323,AL139120,AL158212,AL512270,CH471066,AI610960,AI797732,AK303646,BC017052,BC067241,BI909044,CR607772,CR618926,DA324398,DA472521 NP_660207,CAH71781,CAM22437,EAW49524,EAW49525,BAG64649,AAH17052,Q5W0D7,Q96AJ9,CAM15142 Hs.194554 MVti1|Vti1-rp2 SNARE Vti1a-beta protein|vesicle transport through interaction with t-SNAREs homolog 1A|vesicle transport v-SNARE protein Vti1-like 2 protein-coding 1352901 VTI1B vesicle transport through interaction with t-SNAREs homolog 1B (yeast) 1580863 9446565,18570918,15489334,15371541,14769786,12853575,12477932,12175335,12114520,12067063,11786915,11278762,11101518,10683148,9636656,16189514,11839770,11927603,20089838,11252894,16169070,20562859 10490 NM_006370,AL049779,CH471061,AF035824,AF060902,AK291689,AK310839,AK316572,BC003142,BC042390,BI597967,BT019348,BT019960,CR456757,CR542095,CR603439,CR604112,CR606212,CR610010,CR612585 NP_006361,EAW80945,EAW80946,EAW80947,AAC52016,AAC73059,BAF84378,BAG38161,AAH03142,AAV38155,AAV38763,CAG33038,CAG46892,Q5TZX9,Q9UEU0 Hs.226007 VTI1|VTI1-LIKE|VTI1L|VTI2 v-SNARE|vesicle transport through interaction with t-SNAREs homolog 1B|vesicle transport v-SNARE protein Vti1-like 1|vesicle-associated soluble NSF attachment protein receptor|vti1-rp1 protein-coding 736955 VTN vitronectin The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq] 1580814,1580815,1580816,1580817,1580818,1580863 10022831,11156415,15799029,16195248,1632457,1695900,19193026,19267251,19288063,19408099,19635912,19657137,19730683,19893454,19998373,20031688,20066177,20358426,8120056,8626514,8837777,9065424,9443892,7559467,20121701,20199596,12808446,2418831,14718574,19162023,19118218,18842294,18781095,18658131,18516040,18376415,18362146,18340378,18200066,18174166,17766387,17344041,17081983,16815299,16807684,16785539,16335952,15914035,15905170,15843372,15777802,15717924,15641781,15489334,15140223,15123885,15123712,15069014,14760718,14681059,14586734,12913402,12810534,12757937,12565847,12477932,12437099,12091360,12071840,12019263,11864711,11796824,11796716,11785953,11756447,11751588,11744726,11437656,11419941,10887113,10835423,10586957,10342887,10329419,9733784,9718986,9151113,9030777,8920805,8830783,8663085,8567871,7690138,7682219,7545318,7522053,7518183,7490129,6210287,3004934,2479556,2475499,2454751,2448300,2447940,2433863,2414098,1709100,1706595,1704366,1696913,1694173,1377736,1372588,631332,7522689,11113116,20502634,20195466,19913121,20600001,20628086 1580814,1580815,1580816,1580817,1580818 7448 HM015600,AC002094,AF382388,CH471159,X05006,AI352496,AK298441,AK312968,BC005046,BG470977,BI758517,CR590168,CR591115,CR592309,CR592341,CR592778,CR593593,CR593802,CR594626,CR598384,CR599264,CR599706,CR601125,CR601563,CR605180,CR606331,CR608327,CR608407,CR609434,CR611184,CR611315,CR612052,CR615135,CR615837,CR616509,CR616555,CR617303,NM_000638,CR617873,CR619020,CR619430,CR620941,CR621228,CR622097,CR622367,CR622613,CR622872,CR622907,CR623310,CR623975,CR624874,CR625072,X03168 ADL14521,NP_000629,AAK60270,EAW51082,CAA28659,BAH12789,BAG35807,AAH05046,CAA26933,P04004,ABM84320,ABM87715 Hs.2257 V75|VN|VNT S-protein|complement S-protein|epibolin|serum spreading factor|serum-spreading factor|somatomedin B|vitronectin|vitronectin (serum spreading factor, somatomedin B, complement S-protein) protein-coding 1348253 VTNR vitronectin receptor 7449 1351150 VTRNA1-1 vault RNA 1-1 Vaults are large cytoplasmic ribonucleoproteins of about 13 MD. They are composed of a major vault protein, MVP (MIM 605088), 2 minor vault proteins, TEP1 (MIM 601686) and PARP4 (MIM 607519), and a nontranslated RNA component, VTRNA1-1 (Kickhoefer et al., 1999 [PubMed 10551828]).[supplied by OMIM] 19298825,10551828,9535882 56664 NR_026703,AC116353,AF045143,BD247418 HVG1|VAULTRC1|VR1|hvg-1|vRNA miscrna 1347664 VTRNA1-2 vault RNA 1-2 19298825,9535882 56663 NR_026704,AC116353,AF045144,BD247419 HVG2|VAULTRC2|VR2|hvg-2 miscrna 1347028 VTRNA1-3 vault RNA 1-3 19298825,9535882 56662 NR_026705,AC116353,AF045145 HVG3|VAULTRC3|VR3|hvg-3 miscrna 2292049 VTRNA3P vault RNA 3 (pseudogene) 19298825,12758122,19839995,9535882 100144435 NG_007501,BD247421,Z97054 FLJ20516|HVG4|HVGX|VAULTRC4|hvg-4 pseudo 1603968 VWA1 von Willebrand factor A domain containing 1 VWA1 belongs to the von Willebrand factor (VWF; MIM 193400) A (VA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM] 17187823,16407285,14702039,14527666,12477932,12062410 64856 NM_022834,NM_199121,AL391244,CH471183,AK025868,AK075366,AK096773,AK291557,AL137722,BC003543,BC059409,BQ100861,BU949921,BG370349,DB452905 NP_073745,NP_954572,CAI22657,EAW56197,EAW56198,EAW56199,EAW56200,EAW56201,BAB15264,BAG53363,BAF84246,AAH03543,AAH59409,Q6PCB0 Hs.449009 DKFZp761O051|FLJ22215|VWA-1|WARP von Willebrand factor A domain-containing protein 1|von Willebrand factor A domain-related protein protein-coding 1603244 VWA2 von Willebrand factor A domain containing 2 12477932,16385451,18492952,18434322,15699509,15580307,14506275 340706 NM_198496,AC005383,AC022023,AY572973,BC128588,BC143380,CH471066,AJ536328,AJ616914,AK122716,AK127756,AY572972 NP_940898,AAI28589,Q5GFL6,EAW49475,CAD60276,CAE83814,BAC85505,BAC87116,AAT77225,AAT77226 Hs.197741 AMACO|CCSP-2|MGC157755|NET42 A-domain containing protein similar to matrilin and collagen|a domain-containing protein similar to matrilin and collagen|colon cancer diagnostic marker|colon cancer secreted protein 2|colon cancer secreted protein-2|von Willebrand factor A domain-containing protein 2 protein-coding 1641961 VWA3A von Willebrand factor A domain containing 3A 16344560,14702039,12477932,11181995 146177 NM_173615,AC009019,CH471249,AK093467,AK098260,AK128606,AK307544,AY360464,BC038400,BC109294,BC109295,DA102773,DA317287 NP_775886,EAW50597,EAW50598,EAW50599,EAW50600,BAC04176,BAC05271,BAC87526,AAQ62968,AAH38400,AAI09296,A6NCI4,Q8N7K7 Hs.10697 FLJ40941|FLJ46765 von Willebrand factor A domain-containing protein 3A protein-coding 1603168 VWA3B von Willebrand factor A domain containing 3B 16344560,14702039,12477932,20379614 200403 AC018691,AC092675,AC112788,CH471127,AK057248,AK090786,AK093084,AK098841,AK292397,AK295743,AK302390,AL832635,AL832761,AL834173,AL834385,BC022028,NM_144992,BC026091,BC095480,BC150653,DB090320 NP_659429,AAY24180,AAY24027,EAX01912,EAX01913,EAX01914,BAC03518,BAC04047,BAC05431,BAF85086,BAH12174,BAH13693,CAD89964,CAD38871,CAD39048,AAH22028,AAH95480,AAI50654,Q502W6,Q53QF1,Q53RD3 Hs.269977 FLJ32686|MGC26733 OTTHUMP00000214154|von Willebrand factor A domain-containing protein 3B protein-coding 1323359 VWA5A von Willebrand factor A domain containing 5A 1302758,1580863 15489334,14504409,12477932,9417908,8889548,19656157 1302758 4013 NM_014622,NM_198315,NM_001130142,AP000818,AY366501,CH471065,AF002672,AK291698,AK295247,AK314934,AY366503,AY366504,AY366505,AY366506,AY366507,AY366508,BC001234,BM990294,BT006655,CB243896,CR599674 NP_055437,NP_938057,NP_001123614,AAQ94867,AAQ94868,AAQ94869,EAW67570,EAW67571,EAW67572,EAW67573,AAB60942,BAF84387,BAG58238,BAG37440,AAQ94871,AAQ94872,AAQ94873,AAQ94874,AAQ94875,AAQ94876,AAH01234,AAP35301,O00534 Hs.152944 BCSC-1|BCSC1|LOH11CR2A breast cancer suppressor candidate 1|loss of heterozygosity 11 chromosomal region 2 gene A protein|loss of heterozygosity, 11, chromosomal region 2, gene A|ortholog of mouse AW551984|von Willebrand factor A domain-containing protein 5A protein-coding 1606163 VWA5B1 von Willebrand factor A domain containing 5B1 16344560,14702039,12477932,20379614 127731 NM_001039500,AL020998,CH471134,AK057346,AK125833,AK295797,BC101378,BC101379,BC101380,BC101381,DA806846 NP_001034589,CAI22621,EAW94921,BAB71439,BAC86312,BAG58617,AAI01379,AAI01380,AAI01381,AAI01382,Q5TIE3 Hs.205178 FLJ32784|FLJ43845 OTTHUMP00000002878|von Willebrand factor A domain-containing protein 5B1 protein-coding 2300034 VWA5B2 von Willebrand factor A domain containing 5B2 15231747,12477932 90113 NM_138345,AC061705,AK293885,AL834499,BC001200,BC009862,BC136609,DC308467,DC310771 NP_612354,BAG57274,CAD39157,AAH01200,AAI36610,Q8N398,Q9BVH8 Hs.584997 OTTHUMP00000210691|OTTHUMP00000210692|von Willebrand factor A domain-containing protein 5B2 protein-coding 1603838 VWC2 von Willebrand factor C domain containing 2 17483092,12477932,17400546,12975309 375567 NM_198570,AC034145,AC093775,CH236955,CH471128,AB292671,AY358393,BC110857 NP_940972,EAL23904,EAW60985,BAF51551,AAQ88759,AAI10858,Q2TAL6 Hs.629302 Brorin|MGC131845|PSST739|UNQ739 brain-specific chordin-like protein|brorin|von Willebrand factor C domain-containing protein 2 protein-coding 2859445 VWC2L von Willebrand factor C domain-containing protein 2-like 12477932,20379614,20468071 402117 AB374231,AC068051,BC146903,BC146911,BC146931,BC146935,BC171841,NM_001080500,EF552207,EU541473 AAI46904,AAI46912,AAI46932,AAI46936,AAI71841,B2RUY7,BAH04176,NP_001073969,ABU41137,ACD62527 Hs.534834 brorin-like|von Willebrand factor C domain-containing protein 2-like protein-coding 1602968 VWCE von Willebrand factor C and EGF domains 16344560,14702039,12869306,12477932,7566098,19413886,16496348,19900406 220001 NM_152718,AP003037,CH471076,AA328361,AK056571,AK299583,AK302241,AY205235,BC042143,BC052564,BC077719,BC142624,DB126089 NP_689931,EAW73929,EAW73930,EAW73931,EAW73932,BAB71219,BAG61518,BAG63593,AAO47606,AAI42625,Q96DN2 Hs.60640 FLJ32009|URG11|VWC1 HBV X protein up-regulated gene 11 protein|HBxAg up-regulated gene 11 protein|von Willebrand factor C and EGF domain-containing protein protein-coding 2299987 VWDE von Willebrand factor D and EGF domains 16303743,14702039,12477932,20379614 221806 NM_001135924,AC007321,AC013470,CH236948,CH471073,AK027618,AK075525,BC144316,BC144319 NP_001129396,EAW93643,EAW93644,BAB55237,BAC11671,AAI44320,Q8N2E2 Hs.669526 FLJ14712 OTTHUMP00000201468|von Willebrand factor D and EGF domain-containing protein protein-coding 1347936 VWF von Willebrand factor The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq] 1580863,1580446,1580642,1580643,1580647,1580648,1625712,1625709,1625710,1625711,1580644,1580645 12121649,15182579,1571548,16005629,16581250,16912226,18996572,19286880,19350125,19372260,19422453,19436051,19477487,19496923,19541819,19566550,19570985,19587373,19608674,19630761,19630816,19647361,19682236,19687512,19718474,19718479,19726719,19729451,19730683,19740526,19765212,19765213,19812385,19817991,19820200,19839997,19840363,19874459,19875727,19897581,19897584,19933990,19943880,19944670,19948975,19965639,20021313,20024497,20032502,20036902,20058209,20060388,20062916,20063990,20075158,20118404,20142117,20201926,20218000,20231421,20231535,20303469,20335223,20346360,20424473,20452482,20492463,20508517,2839553,3134349,7505120,7756647,20675279,20936779,15842375,15842374,15842373,15831502,15824096,15816602,15809291,15799029,15764659,15748247,15748246,15735796,15514009,15471879,15467896,15459008,15382239,15377475,15331450,15322948,15257287,15249683,15226181,15219197,15203711,15150074,18612539,18600088,18577516,18549909,18535282,18521510,18521502,18515885,18503632,18492805,18485092,18449422,18433458,18433456,18388497,18347221,18344423,18327408,18315556,18315546,18263586,18194418,18173757,18094571,18064343,18045606,18042361,18029348,17996280,17975018,17958741,17949477,17922807,17908278,17901248,17890957,17883593,17849054,17786534,17764538,17723135,17721608,17681836,17650077,17622488,17619827,17598021,17598011,17597991,17493665,17490730,17472573,17414220,17408410,17408405,17393013,17393012,17371490,17296575,17275499,17190853,17159339,17159336,17146059,17137217,17121983,17119126,17109387,17100655,17098004,17090649,17087728,17053057,17052980,17010412,16990571,16985174,16953272,16953269,16899464,16894469,16870550,16839358,16835381,16805860,16774914,16735600,16676067,16634765,16449527,16435187,16424652,16420575,16418330,16373331,16344560,16324758,16322474,16321553,16320153,16314412,16286459,16247740,16221672,16203734,16194200,16141351,16102037,16102036,15975930,15946221,15946218,15933060,15886817,15886321,15849757,20351307,20354169,20431063,20570857,20627205,20650506,20696943,20696945,20701764,20941784,9351824,20589313,20589314,10887119,2056120,16409464,3121636,9079671,12775718,7721887,8565074,12871509,8874190,15029268,3082891,3087627,6754744,1939645,3872140,14718574,9759493,19624459,19506362,19506361,19506360,19506359,19506358,19506357,19506356,19506355,19506354,19506353,19506352,19498171,19470641,19422343,19420105,19346881,19298374,19289057,19277422,19192112,19190814,19190813,19190805,19175495,19110358,19088379,19060241,19029465,19021456,18983500,18983499,18981290,18945966,18927433,18923835,18855616,18848323,18841300,18809794,18776767,18771467,18761720,18752579,18725999,18724972,18712522,18690339,18665926,18647229,18637125,18618671,11056094,10961880,10880054,10831592,10764791,10737800,10607717,10480607,9570915,9553097,9407109,9373253,9331419,9312128,9218428,9215757,8839833,8622978,8590955,8547152,8486782,8435341,8376405,8348943,8338947,8318738,8123844,8123843,8088787,8011991,7989040,7789955,7734373,7620154,6336654,3875078,3874428,3873280,3524673,3502076,3496594,3495266,3490481,3489923,3489483,3488775,3488076,3089784,3033024,3019665,2864688,2828057,2786201,2584182,2557900,2251280,11583318,11236861,2011604,2010538,1988154,1988024,1906179,1832934,1761120,1737795,1729889,1673047,1672694,1439770,1429668,1420817,1419804,1419803,1409710,15102023,15087444,15079089,15005754,14995987,14760718,14755371,14727255,14727254,14717981,14717980,14717782,14691575,14630802,14604963,14525793,14517489,14512308,14507115,12958606,12883448,12871466,12871266,12860973,12851529,12815111,12792699,12791651,12737944,12729795,12719775,12676191,12668663,12665801,12649144,12646253,12624629,12582178,12579041,12543870,12511565,12477932,12456504,12447349,12445472,12406074,12393736,12393698,12393671,12381897,12362242,12361948,12215337,12183630,12163004,12091053,12087105,12083486,12082590,12070018,12069583,12036879,12036871,12006654,11992244,11992236,11943773,11920243,11914659,11877281,11869299,11864703,11859851,11843298,11843287,11843285,11776314,11776313,11756664,11755948,11736957,11722428,11698279,20605782,20651279,20725043,20589320,20940418,21044367,20498367,10887121,15039442,20418283,20156642,19913121,20505748,20565774,20628086,20673868,20682599,20723310,20403097,20729548 1580446,1580642,1580643,1580647,1580648,1625712,1625709,1625710,1625711,1580644,1580645 7450 HI552225,NG_009072,AC005845,AC005846,AC005904,CH471116,M16946,M25828,M25865,M60675,X06829,AF086470,AK292122,AK297600,AK298097,AK301216,BC022258,BG951111,BQ898017,DB293903,K03028,M10321,M17588,NM_000552,U81237,X02672,X04146,X04385 ACX32324,CBX54458,NP_000543,EAW88814,EAW88815,EAW88816,EAW88817,EAW88818,AAA61294,AAB59458,AAA61295,BAF84811,BAG59985,BAG60382,BAG62791,AAH22258,AAA61293,AAB59512,AAA65940,AAB39987,CAA26503,CAA27765,CAA27972,P04275,Q8TCE8 Hs.440848 F8VWF|VWD coagulation factor VIII VWF|von Willebrand factor protein-coding 1346863 VWFP von Willebrand factor pseudogene 1988024,1487245 7451 NG_001212,AC005301,X66120 F8VWFL|F8VWFP|VWFP pseudo 1352980 VWS Van der Woude syndrome 7452 1605391 WAC WW domain containing adaptor with coiled-coil The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 9373149,8125298,17081983,16964243,16713569,16189514,15489334,15164054,15146197,14702039,12477932,11827461,11347906,11223034,11042152,16712791 51322 NM_016628,NM_100486,AL161936,AL358234,CH471072,AB058747,AF208858,AK055852,AK091453,AK223600,AK225846,AK290174,AK297460,AL713727,BC004258,NR_024557,BC010356,BI463901,CB143386,CN415473 NP_057712,NP_567823,CAI40921,CAI40922,CAI40923,CAI40924,CAH70766,CAH70767,CAH70768,EAW86032,EAW86033,EAW86034,EAW86035,EAW86036,EAW86037,EAW86038,EAW86039,EAW86040,EAW86041,EAW86042,BAB47473,AAF64272,BAB71029,BAD97320,BAF82863,BAG59883,CAD28517,AAH04258,AAH10356,Q5JU75,Q9BTA9,Q9NZE0,Q9P1G8 Hs.435610 BM-016|MGC10753|PRO1741|Wwp4|bA48B24|bA48B24.1 1110067P07Rik|OTTHUMP00000019380|OTTHUMP00000019382|WW domain-containing adapter protein with coiled-coil|WW domain-containing adaptor with coiled coil protein-coding 1319037 WAPAL wings apart-like homolog (Drosophila) 15231747,17113138,17382297,17112726,17081983,15620708,15383329,15345747,15302935,15164054,15150110,12477932,9039502,11111111,16385451,18662753,20379614,18187866,19907496,19696148 23063 NM_015045,AL731569,AL844892,AB426829,AB426830,AB426831,AB426832,AB065003,AB426821,AB426822,AB426823,AB426824,AB426825,AB426826,AB426827,AB426828,CH471142,AB426833,AB426834,AB426835,AB426836,AB426837,AB426838,AF479418,AK000849,AK027005,AK290138,BC017393,BC036507,BC105991,BC140858,BC150269,D87450 NP_055860,CAI16708,CAH73376,CAH73379,BAG55442,BAG55443,BAG55444,BAG55445,BAG55446,EAW80334,EAW80335,EAW80336,EAW80337,BAC78631,BAG55435,BAG55436,BAG55437,BAG55438,BAG55439,BAG55440,BAG55441,BAG55447,BAG55448,BAG55449,BAG55450,BAG55451,BAG55452,AAO14651,BAF82827,AAH17393,AAI40859,AAI50270,BAA13391,Q7Z5K2,Q8WVX6 Hs.203099,Hs.714876 FOE|KIAA0261|WAPL OTTHUMP00000020004|friend of EBNA2 (Epstein-Barr virus nuclear protein 2)|friend of EBNA2 protein|wings apart-like protein homolog protein-coding 1317961 WARS tryptophanyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. 1580863 19363598,19768679,19900940,8496617,1761529,16130169,18180246,17999956,17877375,16798914,16724112,16083285,15939065,15628863,15489334,14702039,14671330,14660560,14630953,12477932,12416978,11834741,11829477,11773626,11773625,11474204,9731757,8864140,8724762,8646895,7925483,7685728,1765274,1763065,1537332,1373391,1286667,16702215,16169070,16341674,20562859,19913121,20628086 7453 AK300255,NM_213645,NM_173701,NM_213646,NM_004184,AL135838,AL157871,CH471061,S82904,S82905,X67923,AK025487,AK056100,AK130698,AK291141,AV710027,BC017489,BC095453,BG717903,BM561448,BM834473,BX248006,CR590717,CR592442,CR592745,CR593130,CR593984,CR594500,CR595301,CR596121,CR598767,CR599251,CR601972,CR602143,CR603505,CR604373,CR604691,CR608018,CR608934,CR611480,CR612095,CR616378,CR620683,CR623856,CR623966,CR626567,CR626779,CR626840,M61715,M77804,X59892,X62570 BAG62020,NP_998810,NP_776049,NP_998811,NP_004175,EAW81700,EAW81701,EAW81702,EAW81703,AAB39380,AAB39381,CAB94199,BAG51626,BAF83830,AAH17489,AAH95453,CAD62335,AAA61298,AAA67324,CAA42545,CAA44450,P23381,P78534 Hs.497599 GAMMA-2|IFI53|IFP53 hWRS|interferon-induced protein 53|trpRS|tryptophan tRNA ligase 1, cytoplasmic|tryptophan--tRNA ligase|tryptophanyl-tRNA synthetase, cytoplasmic protein-coding 1318471 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq] 1580863 17726052,16710414,16341674,15489334,14757836,12477932,10828066,10072595,9373149,8125298,17207965,20877624,20935629 10352 NM_201263,NM_015836,AL139420,AL359823,AL590288,CH471122,AJ242739,AK223197,AK313740,BC021722,BC039889,BC044575,BM834499,CR590727,CR599172,CR621696,AK296799,AK299547,AK300295 NP_957715,NP_056651,CAI22501,CAI22502,CAI21995,CAI21996,CAH71367,CAH71368,EAW56693,EAW56694,CAB63107,BAD96917,BAG36481,AAH44575,Q9UGM6,BAH12434,BAH13063,BAH13253,ADQ32964 Hs.523506 TrpRS (Mt)TrpRS|tryptophan tRNA ligase 2, mitochondrial|tryptophan--tRNA ligase|tryptophan-tRNA ligase|tryptophanyl-tRNA synthetase, mitochondrial protein-coding 1349471 WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia) The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq] 1580863,1599803 10202051,10802735,12600272,16055720,16582881,19041431,19167335,19487689,19561083,19808890,19817875,19859091,9660763,19630517,20936779,20354175,20232122,12769847,8625410,8069912,18029348,19155218,19006568,18995840,18948384,18941616,18654788,18332229,18043243,17890224,17724125,17719003,17711847,17703096,17400488,17390083,17296785,17242350,17065640,16901726,16804117,16709815,16511828,16488394,16372137,16360341,16293614,16285728,16278221,16246732,16002738,15985539,15821030,15772651,15728466,15699074,15592455,15588985,15497008,15489334,15469902,15389128,15361624,15235593,15166239,15130947,15001467,14707117,14559906,14504083,12969986,12872157,12791263,12769846,12727931,12665801,12591280,12530983,12504004,12477932,12429845,12351383,12235133,12213210,12200375,12196287,12177428,12135674,12124997,12073025,12029088,11950596,11943145,11877312,11793485,11748279,11721045,11711533,11598004,11340081,11313252,11242115,11146629,11052943,10967094,10759756,10747096,10724160,10713100,10563804,10532312,10447259,10381382,10360578,10358777,10224664,10068673,9742969,9713366,9683546,9488710,9445409,9405671,9307968,9126958,9098856,8892607,8824280,8810341,8805332,8805223,8757563,8643625,8528199,8528198,7795648,7753869,7565724,4161668,2904289,9694849,9889097,15735674,15558067,15494313,15652748,10066431,20574068 1599803 7454 NM_000377,NG_007877,AF115548,AF115549,AF196970,CH471224,U18935,BC002961,BC012738,BI910072,CF529565,CR591854,CR605612,CR605854,U12707,U19927 NP_000368,AAD26691,EAW50758,EAW50759,AAA60381,AAH02961,AAH12738,AAA62663,AAC50140,P42768,ABW03900 Hs.2157 IMD2|THC|THC1|WASP thrombocytopenia 1 (X-linked)|wiskott-Aldrich syndrome protein protein-coding 1343996 WASF1 WAS protein family, member 1 The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 8605018,15494313,9843499,2775266,10381382,18029348,19497998,19222940,18995840,18947485,18516090,18287015,17901257,17696648,17101133,15670045,15506982,15489334,15280206,15048733,15048123,14702039,14506234,12931191,12872157,12855698,12477932,12447388,12429845,12181570,11146629,11130076,11052943,10970852,10563804,10532312,9889097,9804817,9732292,9463375,9307968,9039502,15659634,15834156,16530190,16862120,17939402,19631450,19890377,20368433 8936 NM_001024936,NM_001024935,NM_001024934,NM_003931,AL590009,AL590549,AL671518,CH471051,AF134303,AI928895,AK097838,BC044591,BC068546,BG719023,BI461486,CR601979,CR622893,D87459 NP_001020107,NP_001020106,NP_001020105,NP_003922,CAI12485,CAI12487,CAI12488,CAI12489,EAW48325,EAW48326,EAW48327,EAW48328,EAW48329,EAW48330,AAD33052,AAH44591,BAA13399,Q5SZK3,Q5SZK4,Q5SZK5,Q92558 Hs.75850 FLJ31482|KIAA0269|SCAR1|WAVE|WAVE1 OTTHUMP00000016990|WASP family protein member 1|homology of dictyostelium scar 1|protein WAVE-1|verprolin homology domain-containing protein 1|wiskott-Aldrich syndrome protein family member 1 protein-coding 1316411 WASF2 WAS protein family, member 2 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. [provided by RefSeq] 1580863 10970852,9732292,17101133,19303398,19162178,19012317,18809728,18795939,18514191,18509249,17591693,17501982,17459058,17081983,17020969,16899465,16710414,16702231,16638851,16401421,15670045,15657136,15489334,15280206,15107862,15070726,15048123,12477932,12181570,12054568,11773052,11246027,20621182,8619474,9110174,11146629,11130076,11073096,10532312,10427990,10381382,10202051,9950691,9889097,9804817,9307968,16055720,19576655,19917258,19925864,16417406 10163 BC040943,NM_006990,AL096774,AL663122,BX293535,CH471059,AB026542,AK025566,AK075231,AK303011,AK304750,BC012329,BC032380,BC032724,AY007122,DC376823,NM_001201404 AAH32724,AAH40943,Q05BU7,Q8NBU0,Q9Y6W5,NP_008921,CAC18518,EAX07753,BAA81795,BAC11488,BAG64142,BAG65507,NP_001188333 Hs.590909,Hs.469244 SCAR2|WAVE2|dJ393P12.2 IMD2|WASP family Verprolin-homologous protein 2|WASP family protein member 2|protein WAVE-2|suppressor of cyclic-AMP receptor (WASP-family)|verprolin homology domain-containing protein 2|wiskott-Aldrich syndrome protein family member 2 protein-coding 1346468 WASF3 WAS protein family, member 3 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. [provided by RefSeq] 1580863 19395286,10381382,17623672,15907837,15826941,15752430,15670045,15280206,15057823,12856283,12477932,12185600,12168954,11246027,11146629,11073096,10048485,9732292,8889548,8137235,19801681 10810 NM_006646,AL159978,AL163538,AL353789,CH471075,AB020707,AB026543,AF134305,AF454702,AK289845,AK294725,AL133590,BC050283,BU736040,S69790 NP_006637,CAI14691,CAH72487,EAX08388,EAX08389,BAA74923,BAA81796,AAD33054,AAL51032,BAF82534,BAG57872,AAH50283,Q5T8P4,Q86VQ2,Q9UPY6 Hs.635221 Brush-1|KIAA0900|SCAR3|WAVE3 WASP family Verprolin-homologous protein 3|WASP family protein member 3|protein WAVE-3|verprolin homology domain-containing protein 3|wiskott-Aldrich syndrome protein family member 3 protein-coding 1626545 WASF4 WAS protein family, member 4 This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, most closely resembles the gene encoding the WAS protein family member 2, which is located on chromosome 1. [provided by RefSeq] 644739 NG_007616,AJ509090,AL022578 CAD48858 pseudo 1353645 WASF5P WAS protein family, member 5 pseudogene This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, resembles the gene encoding the WAS protein family member 3, which is located on chromosome 13. [provided by RefSeq] 19115949,20041166 387122 NG_002397,AL671883,AL662833,AL845443,BX248310,BX927178,CR759828 pseudo 1626557 WASH1 WAS protein family homolog 1 18159949,15233989,15146197,14702039,12477932,11701968,10655549,8889548,20175130,19922874,19922875 100287171 NM_182905,AL928970,AK024448,AK289708,AK309568,BC014406,BC063893,BC094860,BM970740,CN404407,CR612421,CR621334,CR621474,AK024481 NP_878908,BAB15738,BAF82397,A8K0Z3,Q9NSV7,AAI56860,AAI60141,BAB15771,Q9H7J9,Q9H7N0 Hs.446466,Hs.459573,Hs.521961,Hs.585931,Hs.461200,Hs.709408 DKFZp434K1323|FAM39E|FLJ00038|FLJ75027|FLJ99609|MGC190539|MGC193256|WASH CXYorf1-like protein on chromosome 9|FLJ00075 protein|WAS protein family homolog 1|family with sequence similarity 39, member E protein-coding 2299988 WASH2P WAS protein family homolog 2 pseudogene 18159949,16344560,15233989,12477932,11701968,10655549,20936779 375260 BC063459,NR_024077,AF328424,AL078621,AK292759,AK308574,AL137714,AY217347,AY341936,AY341937,BC015400,BC027921,BC073149,BC073913,BC082240,BC093083,BC106020,BX377099,BX537637,CR610039,DA685507 BAF85448,CAB70887,AAO45100,AAQ76875,AAQ76876,CAD97803,Q6VEQ4 Hs.709408,Hs.446466,Hs.459573 DKFZp434K1323|FAM39B|FLJ77647|FLJ98615|MGC104889|MGC111476|MGC117230|MGC52000|MGC90409 pseudo 1606389 WASH3P WAS protein family homolog 3 pseudogene 18159949,16344560,14702039,12477932,11701968,10655549,15489334,16572171,16341674 374666 NR_003659,AC140725,AF282037,AK056232,AK057951,AK095183,AK097269,AK290087,AK291582,AK295256,AW604905,BC048328,BC063555,BC067227,BC110991,BC110996,BI830790,BI830792,BM839085,BQ722707,BQ935819,BQ937971,BX452679,CR595252,CR601154,CR602007,CR604794,CR605448,CR614102,CR614532,CR617972,CR620495,CR622124,CR622318,DA065132,AK300161 BAG53001,BAF82776,BAF84271,BAG58245,C4AMC7,BAG61944 Hs.459573,Hs.585931 FAM39DP|FLJ25222|FLJ57306|FLJ75027|FLJ77846|FLJ78059|MGC117230|MGC52000 pseudo 1606388 WASH4P WAS protein family homolog 4 pseudogene 18159949,18029348,15616553,11701968,9054936 374677 NG_003159,Z84812 CXYorf1P|FAM39CP|FLJ31670 pseudo 2302258 WASH5P WAS protein family homolog 5 pseudogene 375690 AC008993,AK308635,NR_033266 Hs.521961 FAM39F|FLJ35264|FLJ50976|FLJ51139|FLJ98676|FLJ99967 pseudo 1602140 WASH6P WAS protein family homolog 6 pseudogene 18159949,15252450,15233989,14702039,12566406,12477932,11701968,10655549,20498093,20308062 653440 NG_008380,AJ271736,BC029274,CR595583,EU240546,EU240556 CAB96818,ABX71499,ABX71509 Hs.446466 CXYorf1|FAM39A|FLJ77647|WASH pseudo 4145492 WASH7P WAS protein family homolog 7 pseudogene 12477932,14702039,16344560,18159949 653635 AK092583,AK294377,AK296182,AK302089,AK308540,AK308566,AK309926,AK310121,AK310139,AK316487,AL627309,BC053987,BC063470,BC094698,BU616084,CR613196,DA054875,DA143319,NR_024540 BAG52575,BAG57635,BAG58914,BAG63476,BAH14858 Hs.446466,Hs.459573,Hs.461200,Hs.585931,Hs.709408 FAM39F|FLJ35264|FLJ50976|FLJ51139|FLJ99967|WASH5P pseudo 1347655 WASL Wiskott-Aldrich syndrome-like The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. The WASL gene product is a homolog of WAS protein, however, unlike the latter, it is ubiquitously expressed and shows highest expression in neural tissues. It has been shown to bind Cdc42 directly, and induce formation of long actin microspikes. [provided by RefSeq] 1299640,1580863 20678498,20730103,20936779,14732713,16253999,16293614,17474147,9422512,18029348,19262673,19213734,18708039,18667055,18430734,18191793,17985201,17573773,17085436,16885158,16767080,16687395,16531231,16246732,15699051,15489334,15260990,15169891,15102814,14702039,12872157,12871950,12853948,12477932,12456725,12437929,12372256,11830518,11698281,11584276,11340081,11179684,11146629,11082044,11052943,10867004,10781580,10724160,10704453,10563804,10491394,10467124,10381382,10087612,9950691,9822597,9582270,9322739,14506234,15791211,20146487,20095995,18662323 1299640 8976 NM_003941,CH236947,CH471070,E15468,AK023554,AK131016,AK289795,AM295156,BC013776,BC028602,BC052955,CB990698,CR591885,CR749438,D88460 NP_003932,EAL24333,EAW83599,BAF82484,CAL26602,AAH52955,CAH18276,BAA20128,O00401,Q68DE4 Hs.723143,Hs.143728 DKFZp779G0847|MGC48327|N-WASP|NWASP Wiskott-Aldrich syndrome gene-like|neural Wiskott-Aldrich syndrome protein protein-coding 1312705 WBP1 WW domain binding protein 1 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein, which binds to the WW domain of Yes kinase-associated protein by a conserved region: XPPXY motif. The function of this protein has not been determined. [provided by RefSeq] 1580863 15064722,7644498,15489334,14702039,12477932,11042109,9202023,9169421,11604498 23559 AC005041,CH471053,AF087888,AK094297,AK315745,BC010012,BC064482,BC071626,BC071850,CR607952,CR618691,NM_012477,CR626166,U79457,CR619748 NP_036609,EAW99656,AAP97187,BAG38099,AAH10012,AAH64482,AAH71626,AAH71850,AAD10950,Q7Z504,Q96G27,ABM84001,ABW03564 Hs.516114 MGC15305|WBP-1 OTTHUMP00000202627|OTTHUMP00000202628|WW domain-binding protein 1 protein-coding 1317378 WBP11 WW domain binding protein 11 This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq] 1580863 16713569,10593949,17081983,16189514,16162498,15635413,15489334,14640981,12477932,11375989,10744724,16169070,11054566,16000308,16120600,19592703 51729 NM_016312,AC007655,AC010168,CH471094,AB029309,AF118023,AK297410,AK302244,BC001621,BC016441,BC023532,BX647347,CR607984 ABM86677,NP_057396,EAW96328,EAW96329,BAA88410,AAD30425,BAG59845,BAG63596,AAH01621,AAH16441,AAH23532,Q9Y2W2,ABM83466 Hs.655138 DKFZp779M1063|NPWBP|SIPP1 Npw38-binding protein NpwBP|SH3 domain-binding protein SNP70|WBP-11|WW domain-binding protein 11|splicing factor that interacts with PQBP-1 and PP1|splicing factor, PQBP1 and PP1 interacting protein-coding 1625137 WBP11P1 WW domain binding protein 11 pseudogene 1 12477932 441818 NR_003558,AC009835,BC059403 Hs.549773 HsT3017 pseudo 1348215 WBP2 WW domain binding protein 2 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein, which binds to the WW domain of Yes kinase-associated protein by its PY motifs. The function of this protein has not been determined. [provided by RefSeq] 1580863 16169070,19364824,7644498,16772533,16344560,16094384,15489334,14702039,14531730,12477932,9202023,9169421,11042109 23558 CR602003,CR603005,CR604062,CR604992,CR605816,CR609382,CR609856,CR610819,CR613355,CR613461,CR613589,CR613793,CR614838,CR615069,CR615438,CR616083,CR616842,CR617519,CR623226,CR623351,CR623690,CR623721,CR625404,CR625985,CR626541,DA278794,AC087289,CH471099,AF087866,AK057881,AK094458,AK128407,AK293214,AK294082,AK294155,AK300875,AL049981,BC007452,BC010616,CR590489,CR596623,CR597688,CR597715,CR597910,NM_012478,CR599529 Q659G5,Q7Z511,Q969T9,ABM81978,ABM85157,EAW89325,EAW89326,EAW89327,EAW89328,EAW89329,AAP97175,BAG56753,BAG57423,BAG57479,BAG62519,CAH56417,AAH07452,AAH10616,NP_036610 Hs.514489 MGC18269|WBP-2 WW domain-binding protein 2 protein-coding 1604730 WBP2NL WBP2 N-terminal like WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM] 16344560,15461802,12477932,17289678 164684 NM_152613,CH471095,Z99716,AF393575,AK128138,AK129656,AK296138,BC022546,BC022549,CR456400,DB079211 NP_689826,EAW60483,CAI41694,AAQ02873,BAG54636,BAG58880,AAH22546,AAH22549,CAG30286,Q6ICG8 Hs.655541 FLJ26145|MGC26816|PAWP OTTHUMP00000199647|OTTHUMP00000199648|WW domain-binding protein 2-like|postacrosomal sheath WW domain-binding protein protein-coding 2301390 WBP2P1 WW domain binding protein 2 pseudogene 1 11181995 147468 NG_006941,AC104961,CH471088 EAX01199 pseudo 1348548 WBP4 WW domain binding protein 4 (formin binding protein 21) This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq] 727741,1580863 11604498,19592703,9171351,15489334,15057823,14702039,12477932,10748127,9724750,8605874,15837427 727741 11193 AK297536,NM_007187,AL157877,CH471075,AF071185,AK000979,AK001557,AK314525,BC104879,BC108310,CR624814 BAH12608,NP_009118,CAI13223,EAX08643,EAX08644,AAC34811,BAG50940,BAG37119,AAI04880,AAI08311,O75554 Hs.411300 FBP21|MGC117310 WBP-4|WW domain-binding protein 4|WW domain-containing binding protein 4|WW domain-containing-binding protein 4|domain-containing binding protein 4|formin binding protein 21|formin-binding protein 21 protein-coding 1352656 WBP5 WW domain binding protein 5 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq] 737633 9171351,17353931,15772651,15489334,12477932,10931946 737633 51186 NM_001006612,NM_001006613,NM_001006614,CH471190,Z92846,AF125535,AK312190,AL833152,BC023544,BG400091,BQ003038,NM_016303,CR613173 NP_057387,NP_001006613,NP_001006614,NP_001006615,EAW54713,CAD12327,AAF17229,BAG35123,AAH23544,Q9UHQ7,ABZ92330 Hs.533287 DKFZp313K1940|TCEAL9 WBP-5|WW domain binding protein 1|WW domain-binding protein 5|pp21 homolog protein-coding 1344485 WBS2 Williams-Beuren syndrome type 2 1583646 7457 1316823 WBSCR16 Williams-Beuren syndrome chromosome region 16 This gene encodes an RCC1-like G-exchanging factor. It is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq] 1580600,1580863 16381901,15489336,15489334,12477932,12073013,11230166,11076863 1580600 81554 AC124781,CH471292,AF410455,AI701939,AK057870,AK309117,AL136804,AL536085,BC007823,BC019008,BC032712,BC040695,BC157844,CR595395,NM_030798 NP_110425,EAW52090,EAW52091,EAW52092,AAM62304,CAB66738,AAH07823,AAH19008,AAH32712,AAH40695,AAI57845,Q8IW88,Q8N572,Q96I51,CAL37561,ABM84095 Hs.723684 DKFZp434D0421|MGC189739|MGC44931 RCC1-like G exchanging factor-like protein|Williams-Beuren syndrome chromosomal region 16 protein protein-coding 1342451 WBSCR17 Williams-Beuren syndrome chromosome region 17 This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq] 19240061,15744064,15489334,14702039,12690205,12477932,12073013,11013070,7566098,20379614 64409 AC004874,AC004963,AC073330,AC079398,AC091731,AC092021,CH236952,CH471140,AB078148,AF410457,AJ626726,AK022143,AK091379,NM_022479,AK094958,AK126044,AK290036,AL137431,BC067524,BC067525,BC069624,BC069628,BC069636,BC069645,BC069997,CR749675 NP_071924,EAL23969,EAX07897,EAX07898,EAX07899,EAX07900,BAD93180,AAM62306,CAF25037,BAG52344,BAG52964,BAG54282,BAF82725,CAB70734,AAH67524,AAH67525,AAH69624,AAH69628,AAH69636,AAH69645,AAH69997,CAH18466,Q2L4S5,Q58A53,Q68CW8,Q6IS24 Hs.488591 DKFZp434I2216|DKFZp761D2324|GALNT16|GALNT20|GALNTL3 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16|galNAc-T-like protein 3|polypeptide GalNAc transferase-like protein 3|polypeptide N-acetylgalactosaminyltransferase WBSCR17|pp-GaNTase-like protein 3|pp-GalNAc-transferase 20|protein-UDP acetylgalactosaminyltransferase-like protein 3|putative polypeptide N-acetylgalactosaminyltransferase-like protein 3|williams-Beuren syndrome chromosomal region 17 protein protein-coding 1351341 WBSCR2 Williams-Beuren syndrome chromosome region 2 8812460 7459 1344086 WBSCR22 Williams Beuren syndrome chromosome region 22 This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq] 1580863,1580601 15498874,15489334,14702039,12853948,12477932,12073013,11978965,11124703,15635413,17207965 1580601 114049 AK309574,AK315032,BC000169,BC001780,BC011696,CR602260,CR603690,CR615237,CR623572,CR623973,AC073846,CH471200,AF218007,AF412034,AF420248,AJ224442,AK091162,AK291116,AK296375,NM_017528 BAG37517,AAH00169,AAH01780,AAH11696,O43709,Q75ME3,NP_059998,AAS07473,AAS07474,EAW69656,EAW69657,AAG17249,AAM62316,AAL16066,CAA11944,BAG52295,BAF83805,BAG59049,ADQ31623 Hs.647063 HASJ4442|HUSSY-3|MGC19709|MGC2022|MGC5140|PP3381|WBMT OTTHUMP00000211784|Williams Beuren syndrome chromosome region 22 protein|Williams-Beuren candidate region putative methyltransferase protein-coding 1354166 WBSCR23 Williams-Beuren syndrome chromosome region 23 This gene is intronless and mapped to the commonly deleted region for Williams-Beuren Syndrome. 1580863 14702039,12853948,12477932 80112 A0AVD7,Q9H6D5 NM_001039145,AC004851,CH471200,AK026020,BC126309 NP_001034234,AAS00363,EAW69602,BAB15324,AAI26310,A0AVD7,Q9H6D5 Hs.677364 FLJ22367 protein-coding 1347580 WBSCR25 Williams Beuren syndrome chromosome region 25 171021 1342590 WBSCR26 Williams Beuren syndrome chromosome region 26 (non-protein coding) 171022 BU595969 Hs.650513 NCRNA00035 protein-coding 1352777 WBSCR27 Williams Beuren syndrome chromosome region 27 This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq] 18398435,15961456,15489334,12477932 155368 NM_152559,AC093168,CH471200,AF534110,AK301597,AY354928,BC030295,NG_023289 NP_689772,EAW69638,AAN63884,BAG63085,AAQ55828,AAH30295,Q8N6F8,ABM85581 Hs.647042 MGC40131 Williams-Beuren syndrome chromosomal region 27 protein protein-coding 1602434 WBSCR28 Williams-Beuren syndrome chromosome region 28 12477932,8812460 135886 NM_182504,AC093168,CH471200,AA426067,AY372053,AY372054,BC030643,HC007380,HC044591 NP_872310,EAW69637,AAQ74835,AAQ74836,AAH30643,Q6UE05,ACT64528,ACT64529,CBH19495,CBH30625 Hs.647026 MGC26719 Williams-Beuren syndrome chromosomal region 28 protein|Williams-Beuren syndrome critical region 28 protein-coding 1353299 WBSCR3 Williams-Beuren syndrome chromosome region 3 8812460 7460 1314357 WDFY1 WD repeat and FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains a single FYVE domain and multiple WD40 repeats. This protein is localized to endosomes. [provided by RefSeq] 15489334,14702039,12477932,10718198,11739631,17207965 57590 NM_020830,AC073641,CH471063,AA411290,AB037856,AF411977,AJ310568,AK022888,AK023415,BC040525,BC065934,BF223120,N27710 NP_065881,AAY14924,EAW70817,EAW70818,BAA92673,AAL04161,CAC83947,BAB14294,BAB14569,AAH40525,AAH65934,Q53S17,Q8IWB7,Q9H8N9,ADQ32465 Hs.368359 FENS-1|WDF1|ZFYVE17 WD repeat and FYVE domain-containing protein 1|WD40 and FYVE domain containing 1|WD40- and FYVE domain-containing protein 1|phosphoinositide-binding protein 1|phosphoinositide-binding protein SR1|zinc finger FYVE domain-containing protein 17 protein-coding 1316474 WDFY2 WD repeat and FYVE domain containing 2 This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq] 17313651,16873553,16792529,16344560,15489334,14702039,12477932,17207965 115825 NM_052950,AL136525,AL139183,CH471075,AF411978,AK058149,AK093224,AK309815,AK311177,BC014004,CR612847,DA124107 NP_443182,CAH70585,EAX08883,AAL04162,BAB71687,AAH14004,Q96LK4,Q96P53,CAH73431,ADQ32635 Hs.208550 PROF|RP11-147H23.1|WDF2|ZFYVE22 WD repeat and FYVE domain-containing protein 2|WD40 and FYVE domain containing 2|WD40- and FYVE domain-containing protein 2|propeller-FYVE protein|zinc finger FYVE domain-containing protein 22 protein-coding 1316086 WDFY3 WD repeat and FYVE domain containing 3 This gene encodes a protein which contains WD repeats and an FYVE domain. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq] 17207965,15489334,15292400,14702039,12477932,12168954,10231032,9847074,9110174,8889548,8619474,17452356,20168092,20379614,20417604,20493804 23001 NM_014991,AC095046,AC104082,AC108021,AC110806,CH471057,AB023210,AF131845,AF538685,AI393222,AI962188,AK055806,AK092019,AK092394,AK094910,BC013377,BC015214,BC065502,BC119633,BC148294,BC148298,BC150246,BE221984,BM676710,BQ003872,BX648077,BX648153,EF491804,EF491819 NP_055806,AAY40903,EAX05952,EAX05953,EAX05954,EAX05955,EAX05956,BAA76837,ADQ31600,AAN15137,BAB71020,BAC04455,AAH13377,AAH15214,AAH65502,AAI19634,AAI48295,AAI48299,AAI50247,Q8IZQ1 Hs.726339,Hs.480116 ALFY|KIAA0993|MGC16461|ZFYVE25 WD repeat and FYVE domain-containing protein 3|autophagy-linked FYVE protein protein-coding 1350991 WDFY4 WDFY family member 4 737633 19165918,18519826,15489334,14702039,12477932,11181995,10997877,8889548,16385451,17903303,19838193,20169177,20379614 737633 57705 NM_020945,AC035139,AC060234,AC068898,CH471187,AB046827,AK024502,AK074085,AK074443,AK093607,AK127650,AK301736,AK310374,AL833669,BC015694,BC032420,BC034937,BC047574,BM470200,CF142817,CR610316 NP_065996,EAW93117,EAW93118,EAW93119,EAW93120,EAW93121,EAW93122,BAB13433,BAB15792,BAB84911,BAC87073,BAG63201,AAH15694,AAH32420,AAH34937,AAH47574,Q6PIM1,Q6ZS81 Hs.287379 C10orf64|FLJ17416|FLJ36288|FLJ45748|KIAA1607|MGC40604|MGC45899 OTTHUMP00000019564|WD repeat- and FYVE domain-containing protein 4|protein WDFY4 protein-coding 1320961 WDHD1 WD repeat and HMG-box DNA binding protein 1 The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq] 1580863 16344560,9175701,18029348,17761813,17081983,15489334,15302935,14702039,12477932,19423540,19439411,19805216,20028748,20089864,20379614,20406964,20438785 11169 CB053003,DA189308,DB082418,NM_007086,AL160471,CH471061,AJ006266,AK001538,AK001585,AK001620,AK293005,AY517556,BC000622,NM_001008396,BC005040,BC043349,BC063041,BQ420741 NP_001008397,NP_009017,EAW80654,CAA06932,BAG50934,BAG50944,BAG50951,BAF85694,AAT44529,AAH00622,AAH05040,AAH43349,AAH63041,O75717,Q05DR3,Q5GJ66 Hs.385998 AND-1|CHTF4|CTF4 Acidic nucleoplasmic DNA-binding protein 1|CTF4, chromosome transmission fidelity factor 4 homolog|WD repeat and HMG-box DNA-binding protein 1 protein-coding 1314033 WDR1 WD repeat domain 1 This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 15231747,10036186,19165527,18759275,18494608,18179892,15629458,15592455,15489334,12665801,12477932,10366597,9373149,8125298,1602151,14630798,17293856,19818632,6457647 9948 NM_017491,AC005674,AC093664,CH471069,AB010427,AB209746,AF020056,AF020260,AF274954,AK127665,AK222764,AK222897,AK225276,AK291614,AK299602,AK302209,AK303132,AL050108,AL110208,BC000201,BC002489,BC030541,BG724171,BI831941,BX648190,CR595687,CR600870,NM_005112,CR608550,NG_027876 NP_005103,NP_059830,EAW92686,EAW92687,EAW92688,EAW92689,BAA31855,BAD92983,AAD05044,AAD05045,AAK07530,BAG54546,BAD96484,BAD96617,BAF84303,BAG61533,BAG63567,BAG64237,CAB43276,CAB53674,AAH00201,AAH02489,AAH30541,Q53GN4,Q53H17,Q59ER5,Q9BZT4,O75083 Hs.128548,Hs.713658 AIP1|NORI-1 OTTHUMP00000217863|OTTHUMP00000217864|WD repeat-containing protein 1|actin interacting protein 1|actin-interacting protein 1 protein-coding 1353160 WDR12 WD repeat domain 12 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit. 1580863 16043514,16738141,17353269,19198609,17041588,15635413,20738937,20971364,15489334,14702039,12477932,12429849,11827460,11790298 55759 NM_018256,AC010900,CH471063,AF242546,AK001743,AK022781,AK022782,AK056092,AK299489,BC008082,BU633688,CR589963,CR613990,CR622430,EF011617 NP_060726,AAY24287,EAW70318,EAW70319,AAF60355,BAA91875,BAB14242,BAB14243,BAG51621,BAG61449,AAH08082,ABK41107,Q53T99,Q9GZL7,ABM83800,ABM87122 Hs.73291 FLJ10881|FLJ12719|FLJ12720|YTM1 WD repeat-containing protein 12|ribosome biogenesis protein WDR12 protein-coding 1347566 WDR13 WD repeat domain 13 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is widely expressed in various tissues, and located in chromosome X. The function of this gene has not been determined. [provided by RefSeq] 1580863 17207965,18029348,15761153,15489334,14702039,12659815,12477932,9373149,8125298 64743 BI554303,NG_015879,NM_001166426,NR_029427,NM_017883,AC115618,AF149817,CH471224,AF158978,AF329819,AK000570,AK225542,AK301186,AK314739,BC002507,BC067094,BC080579,BX649101,CR591373,CR593655,CR594799,CR595978,CR597236,CR598742,CR598919,CR601096,CR601751,CR602069,CR602306,CR602965,CR603392,CR604375,CR613575,CR616329,CR619297,CR620990,CR621485,CR623068,CR623686,CR624965,DQ907252,DQ907253,DQ907254,DQ907255,L08237 ADQ32017,NP_001159898,NP_060353,AAK13247,EAW50760,EAW50761,EAW50762,AAG47845,BAA91261,BAG62769,BAG37280,AAH02507,AAH67094,AAH80579,ABI93266,ABI93267,ABI93268,ABI93269,AAA74509,Q06DW8,Q06DW9,Q06DX0,Q14827,Q6NXG4,Q9H1Z4,ACE87751,ACE87070 Hs.521973 DKFZp779C2057|FLJ20563|MG21 WD repeat-containing protein 13 protein-coding 1348671 WDR16 WD repeat domain 16 WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM] 15967112,16344560,15489334,14702039,12477932,18029348 146845 AK094847,AK315679,BC025392,DB040461,NM_145054,NM_001080556,AC087501,AC118755,CH471108,CQ756572,AB065281,AI553675,AK074435 BAC04435,BAG38044,AAH25392,Q8N1V2,BAB85083,NP_659491,NP_001074025,EAW90024,EAW90025,EAW90026,EAW90027,CAF32596,BAB83743 Hs.232270 FLJ37528|WDRPUH WD repeat-containing protein 16|WD40-repeat protein up-regulated in HCC|WD40-repeat protein upregulated in HCC protein-coding 1349408 WDR17 WD repeat domain 17 This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis. Alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq] 17286855,15342556,12401215,12477932,19727342,20379614 116966 NM_170710,NM_181265,AC093605,CH471056,AF492460,AK098748,AK130128,BC146812,BI713775,BM875452,BQ270403,BX648508,DQ426895,DQ426896,BC118549,BC118627,BI713506,DB443937 NP_733828,NP_851782,EAX04723,AAN64030,BAC05402,ABD90546,ABD90547,Q0QD35,Q8IZU2,Q8N797,AAI66623 Hs.532056,Hs.693278 FLJ26618 OTTHUMP00000218991|OTTHUMP00000218992|WD repeat-containing protein 17 protein-coding 1321673 WDR18 WD repeat domain 18 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq] 11790298,15635413,15489334,15057824,12477932,16169070,19615732 57418 NM_024100,AC004528,AC005391,CH471139,AK131009,AL560525,BC000040,BC001648,CB991338,CR592965,CR593523,CR594394,CR595453,CR595734,CR596996,CR598079,CR598373,CR599695,CR599979,CR602625,CR606441,CR607398,CR608369,CR608621,CR611615,CR613038,CR615734,CR616693,CR616757,CR617758,CR620331,CR621568,CR621572,CR622581,CR622892,CR623880,CR625348,CR626487 NP_077005,AAC12679,EAW69578,AAH00040,AAH01648,Q9BV38 Hs.325321 MGC2436|R32184_1 WD repeat-containing protein 18 protein-coding 1353133 WDR19 WD repeat domain 19 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. [provided by RefSeq] 15489334,14702039,12906858,12477932,10997877,9373149,8125298,18316561 57728 NM_025132,AC093855,CH471069,AB046858,AK026780,AK122908,AK225588,AK294730,AK296112,AK304161,AK308803,AY029257,BC032578 NP_079408,EAW92915,EAW92916,EAW92917,EAW92918,EAW92919,EAW92920,EAW92921,BAB13464,BAB15550,BAG57877,BAG58861,BAG65048,AAK38745,AAH32578,Q8NEZ3,AAI72278 Hs.438482 DYF-2|FLJ23127|IFT144|KIAA1638|ORF26|Oseg6|PWDMP WD repeat membrane protein PWDMP|WD repeat-containing protein 19|intraflagellar transport 144 homolog protein-coding 1315150 WDR20 WD repeat domain 20 This gene encodes a WD repeat-containing protein. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq] 18029348,17081983,15489334,14702039,12477932,9373149,8125298,19615732,20147737,19913121,20628086 91833 NM_144574,NM_181308,NM_181302,AL133223,AL359402,CH471061,AB209148,AF327354,AK054748,AK056330,AK090580,NM_181291,AK090978,AK225852,AK297727,AL133558,AL832242,AL832500,BC028387,BC030654,BX248274,CR599444 NP_851808,NP_653175,NP_851825,NP_851819,EAW81769,EAW81770,EAW81771,BAD92385,AAL56014,BAG51677,BAG52190,BAG52255,BAG60080,CAB63713,CAI46118,AAH28387,AAH30654,CAD62602,Q59GG1,Q5JPH5,Q86TU2,Q8NCN7,Q8TBZ3,ABM82456,ABM85645,ACE87285,ACE86604 Hs.36859 DMR|FLJ33659|MGC33177|MGC33183 WD repeat-containing protein 20 protein-coding 1344935 WDR24 WD repeat domain 24 16381901,16189514,15489336,15489334,12477932,11230166,11157797,11076863,19615732 84219 NM_032259,AE006464,CH471112,Z92544,AL136863,BC008025,BC009761,AK301146 NP_115635,AAK61244,EAW85751,EAW85752,EAW85753,CAM26347,CAB66797,AAH08025,AAH09761,Q96S15,CAL38177,BAG62737 Hs.459632 C16orf21|DKFZp434F054|JFP7 WD repeat-containing protein 24 protein-coding 1606781 WDR25 WD repeat domain 25 16189514,15587985,15489334,12477932 79446 NM_024515,AL135838,AL845552,CH471061,AK291960,AY295082,BC003641,BC007953,BC067872,BX248767,CR600063,CR621842,CT003969,NM_001161476 NP_078791,EAW81704,EAW81705,EAW81706,BAF84649,AAQ63174,AAH03641,CAD66574,Q64LD2,NP_001154948 Hs.497600 MGC4645 WD repeat-containing protein 25|pre-mRNA splicing factor-like protein-coding 1348746 WDR26 WD repeat domain 26 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq] 18029348,15378603,17081983,17041588,15489334,14702039,12477932,9373149,8125298,21042317,11483580,15146197,19446606,19615732,20171191,8889548 80232 NM_025160,NM_001115113,AC099790,CH471098,AB209887,AK023023,AK024669,AK027236,AK225061,AK299230,AK307909,AY221751,AY304473,BC031471,BC034498,BC041978,BC052301,BC063817,BG744504,CF786114,CR593691,CT002105,EF011612,BF509638,BU673957,CN283908 NP_079436,NP_001108585,EAW69720,EAW69721,EAW69722,EAW69723,EAW69724,BAD93124,BAB14955,BAG61262,AAO67709,AAQ74770,AAH31471,AAH34498,AAH52301,AAH63817,ABK41102,Q9H7D7 Hs.497873 CDW2|FLJ21016|MIP2 CUL4- and DDB1-associated WDR protein 2|WD repeat-containing protein 26|myocardial ischemic preconditioning up-regulated protein 2|myocardial ischemic preconditioning upregulated protein 2 protein-coding 1351994 WDR27 WD repeat domain 27 12477932,16344560,19913121,20628086,20041166,20379614 253769 NM_182552,AL031315,AL135910,AL441927,AL513547,CH471051,AK128656,AK131435,AK293148,BC040606,BC073148,BC131633,BC142982,BX648854,DB292377,DB457719 NP_872358,CAI12313,EAW47447,EAW47448,EAW47449,EAW47450,BAC87552,BAD18581,BAG56695,AAI31634,AAI42983,A2RRH5,Q6ZMZ4,Q6ZQX9 Hs.131903 MGC43690 WD repeat-containing protein 27 protein-coding 1316699 WDR3 WD repeat domain 3 This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq] 1580863 20578902,10395803,16565220,15635413,15342556,14702039,12477932,12429849,11790298,9628821,8889548,20392698,18029348,16169070,19615732 10885 AL121993,CH471122,AA258068,AB209201,AF083217,AK022858,AK292438,BC058836,BP281064,BU685597,CR620639,NM_006784 NP_006775,CAI22739,EAW56684,EAW56685,EAW56686,BAD92438,AAD45865,BAG51127,BAF85127,AAH58836,Q59GA8,Q5TDG3,Q6PDA5,Q9UNX4 Hs.310809 FLJ12796 WD repeat-containing protein 3|dJ776P7.2 (WD repeat domain 3) protein-coding 1319678 WDR31 WD repeat domain 31 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq] 737633 19023099,17975119,15489334,14702039,12477932,114987,16344560 737633 114987 NM_001012361,NM_145241,AL137066,AL449305,CH471090,AK074891,AK093240,AK129868,AK313843,AL833635,BC012352,BC022982,DA209351,DA305733,BE870625,BX279630 Q8NA23,Q8NC90,ABM84561,ABW03487,NP_001012361,NP_660284,CAH70096,CAI10961,EAW87368,EAW87369,EAW87370,EAW87371,EAW87372,EAW87373,BAC11271,BAC04106,AAH12352 Hs.133331 FLJ35921 WD repeat-containing protein 31 protein-coding 1319455 WDR33 WD repeat domain 33 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 1580863 17353931,11162572,17081983,16169070,15761153,14702039,12477932,9373149,8889549,8125298,16344560,8889548 55339 NM_001006623,NM_001006622,AC006011,CH471103,AA142986,AB044749,AK002156,AK098003,AK123510,AK223319,AL043051,AL834365,BC005401,NM_018383,BC010283,BC013990,BC068484,BC108671,CR591938,AI039494,BM673679,BQ896760,BU597855,DA768238,DB324904 NP_060853,NP_001006624,NP_001006623,AAX82033,EAW95342,EAW95343,BAB32435,BAA92113,BAD97039,CAH10688,AAH05401,AAH13990,AAH68484,Q05DP8,Q53FG9,Q69YF7,Q6NUQ0,Q9C0J8,Q9NUL1 Hs.554831 FLJ11294|NET14|WDC146 OTTHUMP00000205989|WD repeat-containing protein 33|WD repeat-containing protein WDC146 protein-coding 1342520 WDR34 WD repeat domain 34 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq] 737633 15489334,15164053,12477932,19521662 737633 89891 NM_052844,AL356481,CH471090,AK302098,AL555205,BC001614,BC011874,BG177634,BI910783,CR591297,CR591802,CR594160,CR594244,CR596639,CR601726,CR604643,CR605290,CR605861,CR607681,CR611062,CR613767,CR614951,CR615609,CR616487,CR618259,CR618445,CR618791,CR621430,CR625055,CR626799 NP_443076,CAH71407,EAW87814,EAW87815,EAW87816,BAG63480,AAH01614,AAH11874,Q96EX3,CAM14248,CAM14249 Hs.495240 MGC20486|RP11-216B9.5|bA216B9.3 WD repeat-containing protein 34 protein-coding 1315220 WDR35 WD repeat domain 35 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 737633,1580863 20193664,15489334,14702039,12477932,12168954,10718198,20817137 737633 57539 NM_001006657,AC013400,AC079145,CH471053,AB037757,AK022866,AK091205,AK122917,AK315094,AL832903,NM_020779,NG_021212,BC033951,BC036659,BX476609 NP_065830,NP_001006658,AAX88936,EAX00838,EAX00839,EAX00840,EAX00841,BAA92574,BAG52306,BAG53797,AAH36659,Q4ZG01,Q69YM0,Q9P2L0,CAH10636 Hs.205427 CED2|KIAA1336|MGC33196 OTTHUMP00000200517|WD repeat-containing protein 35|naofen protein-coding 1313630 WDR36 WD repeat domain 36 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq] 1580863 19347049,19198610,19150991,19145250,18195223,18172102,17960130,17563723,17353431,16966629,16876519,16723468,16518310,15677485,15635413,15590835,15177553,14702039,12477932,19615732,19860791,20198978,20208534,20816195 134430 NM_139281,NG_008979,AC008572,CH471086,AF385437,AK055664,AK074202,AK095312,AL832494,BC037427,BC133025,BC136517,CR600030,CR749211 NP_644810,EAW49035,EAW49036,AAM43838,BAC04527,AAI33026,AAI36518,CAH18068,Q68E02,Q8NI36 Hs.533237 DKFZp686I1650|GLC1G|TA-WDRP|TAWDRP|UTP21 OTTHUMP00000158997|OTTHUMP00000223490|OTTHUMP00000223962|OTTHUMP00000223963|T-cell activation WD repeat protein|T-cell activation WD repeat-containing protein|WD repeat-containing protein 36 protein-coding 1314666 WDR37 WD repeat domain 37 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq] 16381901,16189514,15489336,15164054,14702039,12477932,11230166,11076863,10231032,20677014,19724895,19851296,20198315,20379614,20383146 22884 NM_014023,AC022536,AL607085,CH471072,AB023199,AK024605,AK125050,AK128194,AK292591,AK307259,AL136827,BC018044 NP_054742,CAI15166,EAW86513,EAW86514,EAW86515,EAW86516,EAW86517,BAA76826,BAF85280,CAB66761,AAH18044,Q8WVG2,Q9Y2I8,CAL37555 Hs.188495 FLJ40354|KIAA0982|RP11-529L18.2 WD repeat-containing protein 37 protein-coding 1625454 WDR38 WD repeat domain 38 12477932 401551 NM_001045476,AL354928,BC127949,BC150645,BC171828,BC171830,BC171837 NP_001038941,CAI39637,AAI27950,AAI50646,AAI71828,AAI71830,Q5JTN6 Hs.343383 WD repeat-containing protein 38 protein-coding 1320425 WDR4 WD repeat domain 4 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] 1580863 16780588,17081983,16189514,15861136,15489334,14702039,12477932,12403464,10950928,18029348 10785 NM_033661,NM_018669,AB039887,AP001628,AP001629,CH471079,AJ243912,AJ243913,AK056343,AK292923,AK298015,AK315008,BC001074,BC006341,BC018866,BG722541,BU541429,BU558089,CD368164 NP_387510,NP_061139,BAB13726,EAX09527,EAX09528,EAX09529,CAB93144,CAB93145,BAG51684,BAF85612,BAG60319,BAG37500,AAH01074,AAH06341,P57081,ABM83893,ABM87214 Hs.248815 TRM82 WD repeat-containing protein 4|tRNA (guanine-N(7)-)-methyltransferase subunit WDR4 protein-coding 1314938 WDR41 WD repeat domain 41 737633 20379614,16341674,15489334,14702039,12477932,19913121,20628086 737633 55255 AK293316,AK295249,AK296423,AK300058,AK304329,NM_018268,AC010234,CH471084,AF115511,AK001766,AK021855,AK023977,AL834138,BC001807,BC040241,BM818066,CR616409,CR625903 BAG56835,BAG58240,BAG59085,BAG61867,BAG65176,NP_060738,EAW95805,EAW95806,EAW95807,AAO06948,BAA91895,BAB13915,BAB14749,CAD38853,AAH40241,Q9HAD4 Hs.482573 FLJ10904|MSTP048 OTTHUMP00000222207|OTTHUMP00000222209|WD repeat-containing protein 41 protein-coding 1344839 WDR43 WD repeat domain 43 1580863 17081983,16964243,16565220,16344560,12477932,12429849,8889548,7584028,7584026 23160 NM_015131,AC097720,CH471053,AK000836,BC024234,BC033206,CA311794,CR612320,CR618449,D26488,D87716,DA943836 NP_055946,EAX00522,AAH24234,BAA05499,BAA13441,Q15061,Q8TB67,AAI72316 Hs.622982,Hs.709228 NET12 WD repeat-containing protein 43 protein-coding 1348946 WDR44 WD repeat domain 44 737633 20936779,19240061,17081983,16964243,16381901,15772651,15489336,15489334,15302935,14702039,12665801,12477932,11230166,11076863,10747849,10464283,10077598 737633 54521 AL391474,AL391803,AL391830,CH471161,AK001978,AK092077,AK127556,AK299711,AK304432,AL833605,AL834210,BC013924,BC028697,NM_019045,BX470418,BX537578,BX538087,BX648150,FB343007,FB711130,AK023292,NG_021368,NM_001184965,NM_001184966 NP_061918,CAI41402,CAI41403,CAI41481,CAI41482,CAI41483,CAI41512,CAI41513,EAW89896,EAW89897,BAA92015,BAC03799,BAC87033,BAG61611,BAH14183,CAD38894,AAH28697,CAD97788,CAD98010,Q5JSH3,Q5JSH4,Q8N397,CAL38210,CAL38662,ACE87383,ACE86699,CAR81502,CAS91518,NP_001171894,NP_001171895 Hs.98510 DKFZp686L20145|FLJ13230|MGC26781|RAB11BP|RPH11 OTTHUMP00000023888|WD repeat-containing protein 44|rabphilin-11 protein-coding 1348509 WDR45 WD repeat domain 45 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq] 737633 20562859,15602573,15489334,15020712,14702039,14671302,12477932,9373149,8125298 737633 11152 CR604542,CR608446,NM_007075,NM_001029896,AF196779,AY408066,CH471224,AJ005897,AK023344,AK225122,AK301084,AK315717,AY691428,BC000464,BC003037,BC009027,BC035979,BC069206,BQ068083,CR456725,CR590613,CR592753,CR594026,CR595931 Q9Y484,ABM83171,ABM86372,NP_009006,NP_001025067,EAW50695,EAW50696,EAW50697,EAW50698,EAW50699,EAW50700,EAW50701,EAW50702,EAW50703,EAW50704,CAA06754,BAG62688,AAV80764,AAH00464,AAH03037,AAH09027,AAH69206,CAG33006 Hs.632807 JM5|WDRX1|WIPI-4|WIPI4 OTTHUMP00000032411|OTTHUMP00000032412|OTTHUMP00000032414|OTTHUMP00000216326|OTTHUMP00000216336|WD repeat domain phosphoinositide-interacting protein 4|WD repeat domain, X-linked 1|WD repeat-containing protein 45|WD45 repeat protein interacting with phosphoinositides 4 protein-coding 1350558 WDR45L WDR45-like This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq] 737633 15602573,15489334,15146197,15020712,12477932,11181995 737633 56270 NM_019613,AC124283,CH471099,AA861045,AF091083,AK297477,AM182326,AY691427,BC000974,BC007838,CN262716,CR456770,CR593190,CR598197,CR600994,CR618973 NP_062559,EAW89808,EAW89809,EAW89810,EAW89811,EAW89812,EAW89813,EAW89814,AAC72952,BAG59898,CAJ57996,AAV80763,CAG33051,Q5MNZ6,ABZ92353 Hs.132161 WIPI-3|WIPI3 WD repeat domain phosphoinositide-interacting protein 3|WD repeat protein 45-like|WD repeat-containing protein 45-like|WDR45-like protein|WIPI49-like protein protein-coding 1348914 WDR45LP1 WDR45-like pseudogene 1 446205 1353590 WDR46 WD repeat domain 46 1300397 16565220,16344560,15635413,15498874,15489334,15342556,14574404,12477932,11790298,9545376,9521053,19851445 1300397 9277 NM_005452,NM_001164267,AL031228,AL662820,AL662827,AL844527,BX000343,CH471081,CR759786,CR759817,Z97184,AF447870,AI867295,AK292171,AK292616,AK297925,AK298151,AK308534,AK311388,AK315616,BC000388,BP344599,BX439421,CR597118,CR604572,CR615634,CR621799,DB272479 NP_005443,NP_001157739,CAA20229,CAI18113,CAI17516,CAI41833,CAI41829,CAI41830,EAX03701,EAX03702,EAX03703,EAX03704,CAQ08254,CAQ08024,CAB09994,AAQ04645,BAF84860,BAF85305,BAG60242,BAG60427,BAG37984,AAH00388,O15213,CAM25782,Q5HYZ1 Hs.520063,Hs.671763 BING4|C6orf11|FP221 OTTHUMP00000178637|WD repeat-containing protein 46|WD repeat-containing protein BING4|chromosome 6 open reading frame 11 protein-coding 1343602 WDR47 WD repeat domain 47 737633 16344560,16341674,15489334,12477932,10048485,9373149,8125298,16169070 737633 22911 NM_014969,NM_001142550,NM_001142551,AL449266,BX679664,CH471122,AB020700,AK074616,AK225781,AK289789,AK294998,BC034964,BC039254,BM793705,DA221069 NP_055784,NP_001136022,NP_001136023,CAI14351,CAI14352,CAI14353,CAH71325,CAH71326,CAH71327,EAW56350,EAW56351,BAA74916,BAF82478,BAG58062,AAH34964,AAH39254,O94967 Hs.570055 FLJ90135|KIAA0893 OTTHUMP00000013445|WD repeat-containing protein 47 protein-coding 1347511 WDR48 WD repeat domain 48 1580863 19615732,20147737,19075014,18082604,18032488,15489334,12885920,12477932,12196293,12168954,10819331 57599 NM_020839,AC123903,AC138124,CH471055,AB040882,AF468833,AK025513,AK074278,AK297349,AK298810,AK302307,AL162064,AL832926,BC012861,BC026353,BC037168,BX649170,CR595795 NP_065890,EAW64548,EAW64549,EAW64550,EAW64551,BAA95973,AAL78650,BAG59798,BAG60944,BAG63646,CAB82402,CAH56300,AAH26353,AAH37168,CAH56182,Q8TAF3 Hs.109778 DKFZp686G1794|KIAA1449|P80|UAF1 USP1 associated factor 1|USP1-associated factor 1|WD repeat endosomal protein|WD repeat-containing protein 48 protein-coding 1354020 WDR49 WD repeat domain 49 737633 20379614,15489334,14702039,12477932 737633 151790 NM_178824,AC069530,AC079822,AC117425,CH471052,AK090939,AK097556,AK294387,BC035512 NP_849146,EAW78584,BAC03552,BAC05100,BAG57644,AAH35512,Q8IV35,Q8N7X6 Hs.213762 FLJ33620 OTTHUMP00000212883|OTTHUMP00000212884|WD repeat-containing protein 49 protein-coding 1349800 WDR5 WD repeat domain 5 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 17998332,18838386,12670868,19496786,19453261,19131338,18840606,18829459,18829457,16946699,16878130,16829960,16829959,16713569,16340128,16189514,15960975,15960974,15635413,15489334,14702039,14657013,12477932,11551928,15199122,17353931,16253997,17041588,17355966,17761849,18082152,18378692,18680430,19433449,19556245,20018852,20080758,20085832,20093773,20208542,20306291,17021013,17207965,19047629,20939513,18482256,19854137,20098747 11091 NM_017588,NM_052821,BX649632,CH471090,AA490313,AJ011376,AK000552,AK024484,AK025810,BC001635,BC015594,BC029769,BG773451 NP_060058,NP_438172,CAI18774,EAW88117,EAW88118,EAW88119,EAW88120,CAB66159,BAA91248,BAB15774,AAH01635,P61964,Q9H7J6,ADQ32719 Hs.397638 BIG-3|SWD3 BMP2-induced 3-kb gene protein|SWD3, Set1c WD40 repeat protein, homolog|WD repeat-containing protein 5|WD-repeat protein 5 protein-coding 1353956 WDR51A WD repeat domain 51A 737633 15489334,14702039,12477932,8889548,18068700,19109428 737633 25886 NM_001161580,NM_001161581,AC097637,AC115284,CH471055,CQ783423,AF088072,AK075289,AK315688,AL117629,BC007417,BC110877,BC119692,BC119693,CA944751,CR603119,CR607157,CR608071,CR610123,CR611109,CR611523,CR613937,CR617280,CR617463,CR621643,NM_015426 NP_056241,NP_001155052,NP_001155053,EAW65185,EAW65186,CAF86626,BAC11525,BAG38051,CAB56021,AAH07417,AAI10878,AAI19693,AAI19694,Q8NBT0 Hs.476306 DKFZp434C245|MGC131902|PIX2|WDR51A OTTHUMP00000212480|POC1 centriolar protein homolog A|WD repeat domain 51A|WD repeat-containing protein 51A protein-coding 1350683 WDR51B WD repeat domain 51B 737633 17041588,15489334,14702039,12477932,18068700,19109428,20008567,20379614,16344560,17207965 737633 282809 AK295596,AL832918,BC026080,CR594597,EF011619,AB053276,AC010201,AC025034,CH471054,CQ783661,CQ783663,AB053266,AK027829,AK074772,AK123106,AK123625,NM_172240,AW149266,BU521431,DA851891,DC354425,NM_001199777,NR_037659,NR_037660 BAC85666,BAG58486,CAH10775,AAH26080,ABK41109,Q69YK8,Q6ZW40,Q8IU52,Q8TC44,NP_758440,BAB69430,EAW97425,EAW97426,EAW97427,CAF86799,CAF86800,BAB69057,BAC11198,ADQ31801,NP_001186706 Hs.25130,Hs.604487 FLJ14923|FLJ41111|PIX1|TUWD12|WDR51B POC1 centriolar protein homolog B|TUWD12|WD repeat domain 51B|WD repeat-containing protein 51B protein-coding 1343890 WDR52 WD repeat domain 52 737633 16344560,14702039,12477932,8889548 737633 55779 DB050626,NM_018338,CR936646,NM_001164496,AC023894,AC026348,AC112128,CH471052,AK002004,AK056472,AL133606,BC016799,BC101582,BC113553,BM978031,AK094398,AC026329 CAI56784,Q5CZ82,Q96MT7,Q9NUU0,Q9UF55,NP_060808,NP_001157968,EAW79640,EAW79641,EAW79642,BAA92030,BAB71193,CAB63738,AAI01583,AAI13554 Hs.584936 DKFZp781C082|FLJ11142|MGC126631|MGC142113 WD repeat-containing protein 52 protein-coding 1344468 WDR53 WD repeat domain 53 This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq] 737633 17041588,15489334,12477932,17207965 737633 348793 NM_182627,AC092933,CH471191,AI803796,AK314105,BC054030,CR611345,CR626169,EF011620 NP_872433,EAW53645,EAW53646,EAW53647,BAG36798,AAH54030,ABK41110,Q7Z5U6,ADQ32581 Hs.385865 MGC12928|MGC64882 OTTHUMP00000208263|WD domain, G-beta repeat-containing protein|WD repeat-containing protein 53 protein-coding 1347717 WDR54 WD repeat domain 54 737633 15592455,15489334,14702039,12477932,9373149,8125298,17207965 737633 84058 NM_032118,AC005041,CH471053,AK023015,AK222696,AK311621,BC032428,BC051753,BC051848,CR620405 NP_115494,EAW99677,EAW99678,EAW99679,EAW99680,EAW99681,BAB14358,BAD96416,AAH51848,Q9H977,ADQ33058 Hs.643480 FLJ12953 OTTHUMP00000202528|WD repeat-containing protein 54 protein-coding 1603214 WDR55 WD repeat domain 55 12477932,19023099,17975119,16344560,15489334,14702039 54853 NM_017706,AC116353,CH471062,AA974187,AK000202,AK025355,AK056861,AK122862,AK293417,BC002482,BC041687,BC068485,BQ069026,DB210296 NP_060176,EAW62024,EAW62025,EAW62026,BAA91006,BAB15118,BAG56924,AAH68485,Q9H6Y2 Hs.286261 FLJ20195|FLJ21702 WD repeat-containing protein 55 protein-coding 1605950 WDR59 WD repeat domain 59 15498874,15489334,14702039,12477932,11572484,17041588,19615732,19844255,20379614 79726 NM_030581,AC009132,AC092383,CH471114,AB067510,AF370390,AK022332,AK091316,AK302557,AL832078,BC004519,BC014887,CA777098,CR595181,CR600875,CR594761 NP_085058,EAW95672,EAW95673,EAW95674,EAW95675,EAW95676,BAB67816,AAQ15226,BAB14015,BAG52335,BAH13742,AAH04519,AAH14887,Q6PJI9 Hs.280951 FLJ12270|FP977|MGC11230 WD repeat-containing protein 59 protein-coding 1318414 WDR5B WD repeat domain 5B This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq] 1580863 15489334,14702039,12477932,10369878,8889548,7566098,20705733 54554 NM_019069,AC083798,CH471052,AA310178,AA587370,AK002149,AK315186,BC025762,BC043494,BU678251,CR457279,CR592490 NP_061942,EAW79485,BAA92110,BAG37626,AAH43494,CAG33560,Q86VZ2 Hs.567513,Hs.594258 FLJ11287|MGC49879 WD repeat-containing protein 5B protein-coding 1316962 WDR6 WD repeat domain 6 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. [provided by RefSeq] 17720279,17216128,16189514,15489334,14702039,12477932,11814058,10903905,9373149,8125298 11180 BC143486,BC143488,NM_018031,AC137630,AF099100,AI636120,AK001080,AK022719,AK092079,AK225653,AK295145,AK296387,AK297090,AK304117,AK309913,AL133589,AL833910,BC002826,BC078176,BC101707,BC113467,DC389885,DC400613 NP_060501,AAF80244,BAA91497,BAB14201,BAG52480,BAG58164,BAG59057,BAG59605,BAG65018,CAB63730,CAD38766,AAH02826,AAH78176,AAI01708,AAI13468,Q6AZD6,Q6PKC6,Q8NDH0,Q9H9M3,Q9NNW5,Q9NW86 Hs.654815 FLJ10218|FLJ52552|FLJ56107|MGC126756|MGC142027 OTTHUMP00000208909|WD repeat-containing protein 6 protein-coding 1605671 WDR60 WD repeat domain 60 18391950,16344560,15489334,14702039,12690205,12477932,8889548 55112 NM_018051,AC004863,AC124833,CH236954,CH471149,AK001162,AK027228,AL137660,BC014491,BM718580,BU628311,CR627036,DB072968 NP_060521,EAL23932,EAX04592,BAA91528,AAH14491,CAH10360,Q6AI63,Q8WVS4 Hs.389945 FLJ10300|FLJ23575 WD repeat-containing protein 60 protein-coding 1601957 WDR61 WD repeat domain 61 WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM] 16024656,15761153,15489334,14702039,12477932,16169070,17148452,17207965 80349 NM_025234,AC090607,CH471136,AF100786,AF127799,AF309553,AK024754,AK300838,AK304617,AK311320,BC010080,CR457333,CR591993,CR592884,CR601697,CR601896,CR610234,CR613745,CR619418,CR625025 NP_079510,EAW99173,EAW99174,EAW99175,AAP97225,AAP97249,AAG31639,BAB14986,BAG62489,BAG65399,AAH10080,CAG33614,Q9GZS3,ADQ31674 Hs.513055 REC14|SKI8 WD repeat-containing protein 61|meiotic recombination REC14 protein homolog|recombination protein REC14 protein-coding 1315489 WDR62 WD repeat domain 62 17081983,16565220,16189514,20729831,15489334,15302935,15057824,14702039,12477932,8889548,16169070,20562859,19910486,20890278,20890279,20980985 284403 NM_001083961,NM_173636,AC004144,AD000813,AK090617,AL041673,AL117438,AL133651,AW029580,BC017261,BC058939,BC151839,BQ880028,BQ960310,BU508347,BX647726,CF142643,CR621762,NG_028101 NP_001077430,NP_775907,AAC27979,BAC03488,CAB55924,CAH56390,AAH17261,CAH56191,O43379,Q9UFV9 Hs.116244 C19orf14|DKFZp434J046|DKFZp686G1024|FLJ33298|MGC166976 WD repeat-containing protein 62 protein-coding 1605003 WDR63 WD repeat domain 63 16710414,16344560,15489334,14702039,12477932,20379614 126820 NM_145172,AL358789,CH471097,AK054629,AK292603,AY049724,BC040265,BX648851,DB075669,DB085334 NP_660155,CAI14916,CAI14917,EAW73212,EAW73213,EAW73214,BAB70778,BAF85292,AAL06239,AAH40265,Q8IWG1 Hs.97933 FLJ30067|NYD-SP29|RP11-507C22.2 WD repeat-containing protein 63|testis development protein NYD-SP29 (NYD-SP29) protein-coding 1605299 WDR64 WD repeat domain 64 14702039,20923822,19626040,20379614 128025 AL365366,BX248405,BX322532,CH471098,AK057540,AK122927,AY327404,NM_144625,BE673668 AAI56933,NP_653226,CAI15650,CAI15652,CAI95314,CAH71837,CAH71839,CAI95104,EAW70101,EAW70102,BAB71525,AAP92796,AAI48603,B1ANS9 Hs.97527 FLJ32978 OTTHUMP00000037771|WD repeat-containing protein 64 protein-coding 1603569 WDR65 WD repeat domain 65 8889548,18029348,16710414,15489334,14743216,14702039,12477932,15867431,16344560 149465 BU609144,DB216041,DV080109,DV080256,DV080557,DV080558,NM_152498,AC093420,AL139138,CH471059,AK056562,BC117280,BC117306,BC143804,DB057663,DB066304,NM_001167965,NM_001167966,NR_030778,DA388966,NG_028079 NP_689711,CAI18963,EAX07118,BAB71217,AAI17281,AAI17307,Q96MR6,NP_001161437,NP_001161438,ADR83238 Hs.527565 FLJ32000|RP11-282K6.2 WD repeat-containing protein 65 protein-coding 1606715 WDR66 WD repeat domain 66 19110211,14702039,12477932,8889548,19773279,19820697 144406 NM_144668,AC069503,CH471054,AA853421,AK097102,AL833930,BC028421,BC036233,BE870554,CA503090,CA944646,DB462471,AA858079,CN480050,NG_021364,NM_001178003 NP_653269,EAW98298,EAW98299,CAD38786,AAH28421,AAH36233,Q8TBY9,NP_001171474 Hs.709837 FLJ39783|MGC33630 WD repeat-containing protein 66 protein-coding 1603593 WDR67 WD repeat domain 67 20379614,15489334,14702039,12477932 93594 NM_145647,NM_001145088,AC100873,CH471060,AK025686,AK056434,AK092041,AK094612,BC026969,BC027237,BC101724,BC105800,BC111954,BC143523,BC143525,CA429516,CR594827,CR596842,U43374 NP_663622,NP_001138560,EAW92018,EAW92019,EAW92020,EAW92021,BAB71182,BAC04384,AAH26969,AAH27237,AAI01725,AAI05801,AAI11955,AAI43526,Q3KRB0,Q8N1Y0,Q8TAK7,Q96DN5 Hs.492716 Gm85|MGC104222|MGC126773|MGC138159|MGC21654 WD repeat-containing protein 67 protein-coding 1602062 WDR69 WD repeat domain 69 17903302,16093345,15815621,15489334,14702039,12477932 164781 NM_178821,AC073065,CH471063,AK097409,AK098821,AK127882,AK301861,BC036377 NP_849143,AAX93215,EAW70880,EAW70881,EAW70882,EAW70883,EAW70884,BAC05039,BAC05425,BAC87175,BAG63301,AAH36377,Q8N136 Hs.424594 FLJ25955 WD repeat-containing protein 69 protein-coding 736419 WDR7 WD repeat domain 7 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] 19240061,19010793,15489334,14702039,12786944,12477932,10828621,9628581,20379614 23335 NM_015285,NM_052834,AC007052,AC008006,AC012301,CH471096,AB011113,AF188125,AK057141,AY099325,BC050352,BC131558,BC150282 NP_056100,NP_443066,EAW63037,EAW63038,EAW63039,EAW63040,BAA25467,AAL03983,AAM33134,AAH50352,AAI31559,AAI50283,Q9Y4E6 Hs.465213 KIAA0541|TRAG OTTHUMP00000163596|TGF-beta resistance associated|TGF-beta resistance-associated protein TRAG|WD repeat-containing protein 7|rabconnectin-3 beta protein-coding 1605675 WDR70 WD repeat domain 70 14702039,12477932,19615732 55100 NM_018034,AC025469,AC093269,AC117532,CH471119,AK001095,AK291179,AK310901,AL512685,BC009648,BC025315,BX537655,CR597628 NP_060504,EAW55960,EAW55961,BAA91502,BAF83868,CAC21644,AAH09648,AAH25315,Q9NW82 Hs.213690 FLJ10233 WD repeat-containing protein 70 protein-coding 1602418 WDR72 WD repeat domain 72 19853237,19875614,20379614,20383146,20938048,15489334,14702039,12477932,8889548,20139978 256764 NG_017034,NM_182758,AC024061,AC066611,AC066614,CH471082,AK096055,AK123805,AK125130,AK310211,AK311300,BC058026,BC101614,BC101616,BX537884,BX648571,BX648751,CK299278 NP_877435,EAW77462,BAC04689,AAI01615,AAI01617,CAD97880,Q3MJ13,ACE87361,ACE86676 Hs.122125 AI2A3|FLJ38736|MGC126663|MGC126665 OTTHUMP00000162771|WD repeat-containing protein 72 protein-coding 1602852 WDR73 WD repeat domain 73 14702039,12477932,9373149 84942 NM_032856,AC048382,CH471101,AF161382,AK027200,AK027794,AK055578,AK055729,AK090406,AK225068,AK225199,AK295372,BC014115,BC020252,BC050648,BC063392,CR598576,CR609211 NP_116245,EAX01945,EAX01946,EAX01947,EAX01948,EAX01949,AAF28942,BAB55373,BAG51562,BAC03387,BAG58332,AAH14115,AAH50648,AAH63392,Q5RKY8,Q6P4I2,Q6PJL8,Q8NF73 Hs.165736 FLJ14888|HSPC264 FLJ00296 protein|WD repeat-containing protein 73 protein-coding 1603395 WDR74 WD repeat domain 74 12429849,15489334,14742713,14702039,12477932,11790298,16169070,17207965 54663 AP001160,CH471076,CS300592,AK001301,AK025383,AK292330,AK303186,AY500828,BC006351,CR596173,CR596898,CR598633,CR609704,CR618779,CR622242,CR625671,NM_018093 NP_060563,EAW74111,EAW74112,CAK32256,BAA91610,BAB15122,BAF85019,BAG64280,AAS48499,AAH06351,Q6RFH5,ADQ32363 Hs.654620 FLJ10439|FLJ21730 NOP seven-associated protein 1|WD repeat-containing protein 74 protein-coding 1604581 WDR75 WD repeat domain 75 17081983,16565220,15815621,19615732,15489334,14702039,12477932,12429849 84128 NM_032168,AC013439,CH471058,AK022581,AK022607,AK023276,AK091546,AK290445,AL122097,BC006816,BC018689,BC040567,CR619288,CR749440 NP_115544,AAX93081,EAX10903,EAX10904,EAX10905,BAB14111,BAB14126,BAB14503,BAF83134,CAB59265,AAH06816,AAH18689,AAH40567,CAH18278,Q05D27,Q8IWA0 Hs.399984 DKFZp781N1244|FLJ12519|NET16 WD repeat-containing protein 75 protein-coding 1605336 WDR76 WD repeat domain 76 17041588,15489334,14702039,12860291,12499253,12477932,19913121,20628086,15146197,16344560 79968 NM_024908,AC018512,AC023356,CH471082,AK023035,AK290933,BC025247,BC051855,CR595259,EF011624,AA743653,AA810149,BQ183396,BX374706,CN259143,DA439086,NM_001167941 NP_079184,EAW77248,BAB14369,BAF83622,AAH25247,AAH51855,ABK41114,Q9H967,NP_001161413 Hs.250154 CDW14|FLJ12973 OTTHUMP00000196079|WD repeat-containing protein 76 protein-coding 1604293 WDR77 WD repeat domain 77 WDR77 is a component of the 20S PRMT5 (MIM 604045)-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins (see MIM 601061). This modification targets Sm proteins to the survival of motor neurons (SMN) complex (see MIM 600354) for assembly into small nuclear ribonucleoprotein core particles (Friesen et al., 2002 [PubMed 11756452]).[supplied by OMIM] 15130578,18356297,17437848,17081983,17032745,16712789,16710414,15670829,15489334,15324660,15221005,14702039,12560496,12477932,11756452,9373149,9110174,8619474,8125298,16980624,17207965,12972618,16087681,16253997,17158748,17643375,19188445 79084 NM_024102,AL390195,CH471122,AB073603,AB074171,AF052183,AK022860,AK223189,AK296163,AK298179,AY225316,BC001679,BC006477,BC009411,BC011778,BC016946,CR606134,CR607217,CR616007,AF478464 NP_077007,CAC36041,CAI15627,EAW56493,EAW56494,BAD38641,BAE45736,AAL79917,BAG51128,BAD96909,BAG58902,BAG60450,AAP79114,AAH01679,AAH06477,AAH09411,AAH11778,AAH16946,Q5QNY9,Q9BQA1,ADQ32672 Hs.204773 HKMT1069|MEP50|MGC2722|Nbla10071|RP11-552M11.3|p44 MEP-50|OTTHUMP00000013473|WD repeat-containing protein 77|androgen receptor cofactor p44|methylosome protein 50|p44/Mep50 protein-coding 1605635 WDR78 WD repeat domain 78 16710414,15489334,14702039,12477932,16344560,8889548 79819 NM_024763,NM_207014,AL139216,AL354978,AL592161,CH471059,AK026782,AK091603,AK127011,AK292830,AL133617,AL516734,BC032406,BC126379,BC126381,BX648840,CR620846,BM968567,DA916550 NP_079039,NP_996897,CAI18870,CAI18871,CAI18872,CAH71842,CAH72704,CAH72705,EAX06513,EAX06514,EAX06515,BAB15551,BAF85519,CAB63744,AAH32406,AAI26380,AAI26382,A0AVI9,Q5TAD8,Q5VTH9,ADR83283 Hs.49421 FLJ23129|RP11-342H21.1 WD repeat-containing protein 78 protein-coding 1350775 WDR8 WD repeat domain 8 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq] 17353931,16710414,15489334,14702039,12477932,11401440,9373149,8125298,19615732,17207965 49856 NM_017818,AL136528,AL513320,CH471130,AB034912,AI376011,AK000437,AK225525,AK302397,BC002611,BC086311,CR596816,CR597189,CR599166,CR605005,CR613845,CR619231,CR626114,DC380547 NP_060288,CAI19128,CAI19129,CAI19130,CAI19131,CAI14335,CAI14336,CAI14337,EAW71459,EAW71460,EAW71461,BAA92312,BAA91164,BAG63711,AAH86311,Q9P2S5,ADQ32406 Hs.31714 FLJ20430|MGC99569 OTTHUMP00000000666|WD repeat-containing protein 8 protein-coding 1606736 WDR81 WD repeat domain 81 20705733,15489334,14702039,12477932 124997 NM_001163673,AC130343,CH471108,AI168277,AK074111,AK074356,AK091136,AK122972,AK123896,AK127946,AK298567,AK300986,AL834379,BC092513,BC114519,BC114568,CR621271,AI916244,NM_001163809,NM_001163811,NM_152348 NP_001157145,EAW90582,EAW90583,EAW90584,BAB84937,BAC03593,BAG53978,BAG54603,BAH12815,BAH13389,CAD39042,AAH92513,AAI14520,AAI14569,Q24JR4,Q562E7,Q8TEL1,NP_001157281,NP_001157283,NP_689561 Hs.234572 FLJ23776|FLJ33817 OTTHUMP00000204690|OTTHUMP00000207123|OTTHUMP00000208973|OTTHUMP00000208974|WD repeat-containing protein 81 protein-coding 1604285 WDR82 WD repeat domain 82 TMEM113 is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM] 18838538,17998332,17355966,17041588,16253997,14702039,12975309,12477932,18680430,19433449,20516061 80335 NM_025222,AC092045,CH471055,AF132207,AF173977,AI478905,AK074290,AK098435,AK123860,AK130177,AK291380,AY358264,BC011760,BC018941,BX648628,CR604741,CR612750,CR616060,DB500464 NP_079498,EAW65202,EAW65203,AAG35553,AAQ13620,BAB85039,BAF84069,AAQ88631,AAH11760,AAH18941,Q6UXN9 Hs.194110 MST107|MSTP107|PRO2730|PRO34047|SWD2|TMEM113|WDR82A WD repeat-containing protein 82|transmembrane protein 113 protein-coding 1626141 WDR82P1 WD repeat domain 82 pseudogene 1 11181995,16253997 728505 NG_006256,AC140059,CH471052 EAW79892 SW2|SWD2|WDR82|WDR82B|hCG26824 pseudo 1626190 WDR82P2 WD repeat domain 82 pseudogene 2 441891 NG_006032,AL355871 WDR82C pseudo 1312556 WDR85 WD repeat domain 85 737633 15489334,15164053,14702039,12477932,19965467,20379614,17207965 737633 92715 NM_138778,AL365502,CH471090,CQ783158,AJ420445,AK075115,AK307180,AK308998,AK310226,AK310987,BC003123,BC016349,BC017335,BC040173,CR593031,CR593908,CR597738,CR621191 NP_620133,CAI14584,EAW88400,EAW88401,CAF86364,BAC11411,AAH03123,AAH17335,AAH40173,Q9BTV6,ADQ32716 Hs.292570 C9orf112|FLJ90634|RP11-48C7.3 WD repeat-containing protein 85|chromosome 9 open reading frame 112 protein-coding 1604947 WDR86 WD repeat domain 86 16344560,12477932 349136 AK301628,NM_198285,AACC02000108,AC005486,AC005996,CH471173,AK125347,AK296049,BC047921,BC107125,BI757623,BX338490,BX390499,CR608177,DA267732 BAG63113,NP_938026,EAL24513,EAW53995,EAW53996,EAW53997,EAW53998,BAC86140,BAG58813,AAI07126,Q86TI4 Hs.647083 FLJ51355|MGC129839 OTTHUMP00000212012|WD repeat-containing protein 86 protein-coding 1602453 WDR87 WD repeat domain 87 83889 NM_031951,AC016582,AK128826,AK301941,AK302913,AY026504 NP_114157,BAC87627,BAG63361,BAG64080,AAK20167,Q6ZQQ6 Hs.664194 FLJ52608|NYD-SP11 WD repeat-containing protein 87|testis development protein NYD-SP11 protein-coding 1606735 WDR88 WD repeat domain 88 12477932 126248 NM_173479,AC008738,AI982942,AK131444,BC031227,HC007384 NP_775750,BAD18589,AAH31227,Q6ZMY6,AAI48667,CBH19497 Hs.211046 PQWD PQQ repeat and WD repeat domain containing|PQQ repeat and WD repeat-containing protein|WD repeat-containing protein 88 protein-coding 1316567 WDR89 WD repeat domain 89 18029348,15635413,15489334,14702039,12477932,16169070,17207965 112840 NM_080666,NM_001008726,AL136038,CH471061,AF115513,AK095324,BC010698,BI603622,BX248008,CR590052,CR620350 NP_542397,NP_001008726,EAW80831,EAW80832,AAO06950,BAC04530,AAH10698,CAD62336,Q96FK6,ADQ32353 Hs.655666 C14orf150|MGC9907|MSTP050 OTTHUMP00000179056|WD repeat-containing protein 89 protein-coding 1604213 WDR90 WD repeat domain 90 14702039,12477932,11572484,11157797 197335 NM_145294,AE006464,AL022341,AB067511,AK091062,AK092719,AK093609,AK093802,AK126622,AK131510,BC062304,BC065836,BC121185,BC121186 NP_660337,AAK61239,CAC79469,BAB67817,BAC03575,BAC04205,BAC04225,BAD18654,AAH65836,AAI21186,AAI21187,Q96KV7,AAI72228 Hs.511903 C16orf15|C16orf16|C16orf17|C16orf18|C16orf19|FLJ36483|FLJ44660|KIAA1924 WD repeat-containing protein 90 protein-coding 1606020 WDR91 WD repeat domain 91 16381901,15489336,14702039,12477932,11230166,11076863,11042152,16169070 29062 NM_014149,AC009542,AC083862,CH236950,CH471070,AF161534,AK001606,AK022935,AK074466,AL136940,BC009939,BC017246,BC063394,BX640957,CR533561 NP_054868,EAL24062,EAW83842,EAW83843,EAW83844,EAW83845,AAF29021,BAA91785,BAB14316,CAB66874,AAH09939,AAH17246,AAH63394,CAE45977,CAG38592,A4D1P6,CAL38087 Hs.459858 HSPC049 OTTHUMP00000207986|WD repeat-containing protein 91 protein-coding 1605887 WDR92 WD repeat domain 92 The WD40 repeat domain is a common structural module in eukaryotes, and proteins containing WD40 domains have a diverse range of functions, including signal transduction, cell cycle regulation, RNA splicing, and transcription (Saeki et al., 2006 [PubMed 16487927]).[supplied by OMIM] 16487927,14702039,12477932,16600877,19450687 116143 NM_138458,AC017083,CH471053,AK056303,AK058090,AK090527,AL834142,AY541587,BC014022,BC020271,BC036904,BC066657 ACE86470,ACE87810,NP_612467,AAY14713,EAW99880,EAW99881,EAW99882,EAW99883,BAB71143,BAB71660,CAD38855,AAS48106,AAH14022,AAH66657,Q6QHF3,Q86YQ0,Q8ND98,Q96CR6,Q96LM8,Q96MX6,ACE87151,ACT64497 Hs.631877 FLJ31741 OTTHUMP00000205522|WD repeat-containing protein 92|WD repeat-containing protein Monad|monad protein-coding 1604328 WDR93 WD repeat domain 93 14702039,12477932 56964 NM_020212,AC013787,AC079075,CH471101,AK097525,AK302032,AK304683,AL390084,AL390085,BC051026,BC064626 NP_064597,EAX02063,EAX02064,EAX02065,BAC05088,BAG63429,BAG65454,CAB98208,CAB98209,AAH64626,Q6P2C0 Hs.177557 WD repeat-containing protein 93 protein-coding 1346298 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 737633,1580863 15815621,15489334,14702039,12477932,11329013,8889548 737633 151525 NM_152528,NM_001128212,NM_001128213,AC008277,AC009307,CH471058,AK093494,AK129983,AL040518,BC029520,BG186973,CB240898,CR607851,CR619104,DR000438 NP_689741,NP_001121684,NP_001121685,AAX93043,EAX11408,EAX11409,EAX11410,EAX11411,EAX11412,EAX11413,EAX11414,EAX11415,EAX11416,BAC04184,AAH29520,Q8N9V3 Hs.20848 FLJ36175|UBOX6|WDSAM1 2610014F08Rik|OTTHUMP00000204786|WD repeat and SAM domain containing 1|WD repeat, SAM and U-box domain containing 1|WD repeat, SAM and U-box domain-containing protein 1|wd repeat and sam domain containing 1 protein-coding 1321224 WDTC1 WD and tetratricopeptide repeats 1 737633 19238144,15489334,14702039,12717455,12477932,12421765,10470851,20562859,16949367,16964240,19615732 737633 23038 NM_015023,AL590640,AL663123,CH471059,AB028960,AK001734,AK023101,AK023778,AK315564,BC032523 NP_055838,CAH73549,CAI14787,EAX07769,EAX07770,EAX07771,EAX07772,BAA82989,BAA91868,BAB14675,AAH32523,Q8N5D0,Q9H8E2 Hs.469154 ADP|DCAF9|KIAA1037 DDB1 and CUL4 associated factor 9|WD and tetratricopeptide repeats protein 1|adipose homolog protein-coding 1602877 WDYHV1 WDYHV motif containing 1 16713569,16189514,14702039,12477932,9373149,8125298,17207965,19060904 55093 NM_018024,AC021305,CH471060,AK001066,AK225643,AK293492,BC008781,CR600640 NP_060494,EAW92037,EAW92038,EAW92039,BAA91488,BAG56979,AAH08781,Q96HA8,ADQ32795 Hs.18029 C8orf32|FLJ10204 N-terminal Gln amidase|WDYHV motif-containing protein 1|nt(Q)-amidase|protein N-terminal glutamine amidohydrolase|protein NH2-terminal glutamine deamidase protein-coding 1317355 WEE1 WEE1 homolog (S. pombe) This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq] 1580863 15161933,16085715,19858290,19903823,20038582,20508983,15735702,15070733,1384126,1396589,8348613,19126550,18950845,18820127,18560763,18385244,17764157,17687495,17431037,17192257,17081983,16533053,15964826,15837193,15761153,15735666,15583029,15324660,15302935,15253423,15175024,15150265,14760118,14702039,14534529,12679038,12669309,12601350,12525641,12477932,12214061,12186947,11839808,11691994,11531413,11528126,10775038,10564259,9618490,9268380,8432534,8428596,8084605,7774574,7743995,7673359,1840647,16429131,16354571,15254189,15817944,15780175,15725353,15265780,15142377,9499405,15778465,20832752,19821025,19913121,20628086,20372791,20668041 7465 NM_003390,NM_001143976,AB019580,AB019581,AC011979,AC122179,AJ277546,CH471064,AK122837,BC051831,BC070052,BQ024511,BX641032,U10564,X62048 NP_003381,NP_001137448,CAC14173,EAW68586,EAW68587,EAW68588,BAG53753,AAH51831,AAH70052,CAE46020,AAB60401,CAA43979,P30291,Q6MZL0,Q6NSL2,Q86V29,ACE87582,ACE86895 Hs.249441 DKFZp686I18166|FLJ16446|WEE1A|WEE1hu WEE1+ homolog|wee1-like protein kinase|wee1A kinase protein-coding 1352233 WEE2 WEE1 homolog 2 (S. pombe) 16341674,14702039,11181995,11029659,18029348 494551 BG402079,BM790836,NM_001105558,AC004918,CH236950,CH471070,AK131218 P0C1S8,AAI72300,NP_001099028,EAW83977 Hs.657927 FLJ16107|WEE1B wee1-like protein kinase 1B|wee1-like protein kinase 2|wee1B kinase protein-coding 68974 WFDC1 WAP four-disulfide core domain 1 This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. The encoded protein shares 81% amino acid identity with the rat ps20 protein, which was originally identified as a secreted growth inhibitor. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. Owing to its location and a possible growth inhibitory property of its gene product, this gene is suggested to be a tumor suppressor gene. [provided by RefSeq] 2291859,2291860,1580863 18842679,17942534,16303743,15489334,15305342,14702039,14522910,12477932,12032731,10967136,19488830,20090771 2291859,2291860 58189 NM_021197,AC010551,CH471114,AF169631,AF302109,AK075061,AL713785,BC029159,CR595501,CR604862,CR608359,CR610530,CR615719 NP_067020,EAW95486,EAW95487,AAG16647,AAG15263,BAC11377,AAH29159,Q9HC57,ABM84291,ABM87681 Hs.36688 PS20 WAP four-disulfide core domain 1 homolog|WAP four-disulfide core domain protein 1|prostate stromal protein ps20|ps20 growth inhibitor protein-coding 1315782 WFDC10A WAP four-disulfide core domain 10A This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq] 1580863 15950183,12206714,11780052,12477932 140832 NM_080753,AL031671,CH471077,BC131579,CR598861,AY038182 NP_542791,CAI22433,EAW75827,AAK72469,AAI31580,Q9H1F0 Hs.199380 C20orf146|WAP10|dJ688G8.3 WAP four-disulfide core domain protein 10A|putative protease inhibitor WAP10A protein-coding 1343114 WFDC10B WAP four-disulfide core domain 10B This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq] 15950183,15489334,12477932,12206714,11780052 280664 AL031671,NM_172131,NM_172006,AL109656,CH471077,AF454506,AF454507,BC121071,BC121072 NP_742143,NP_742003,CAI22436,EAW75822,EAW75823,AAN70989,AAN70990,AAI21072,AAI21073,Q8IUB3 Hs.237392 WAP12 protease inhibitor WAP12|protein WFDC10B protein-coding 1351256 WFDC11 WAP four-disulfide core domain 11 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq] 15950183,15489334,12477932,12206714,11780052,20379614,17207965 259239 NM_147197,AL031671,CH471077,AY047609,BC062670 NP_671730,CAI22435,EAW75824,EAW75825,AAK97771,AAH62670,Q8NEX6,ADQ32079 Hs.374924 MGC71905|WAP11 OTTHUMP00000043657|OTTHUMP00000043658|protease inhibitor WAP11|protein WFDC11 protein-coding 1349049 WFDC12 WAP four-disulfide core domain 12 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq] 1580863 11779191,15950183,12975309,12206714,11780052 128488 NM_080869,CH471077,Z93016,AY037803,AY358678 NP_543145,EAW75875,EAW75876,CAI19817,AAK68848,AAQ89041,Q8WWY7,AAI40218,AAI46515 Hs.352180 C20orf122|SWAM2|WAP2|dJ211D12.4 WAP four-disulfide core domain protein 12|protease inhibitor WAP2|putative protease inhibitor WAP12|single WAP motif protein 2|whey acidic protein 2 protein-coding 1352525 WFDC13 WAP four-disulfide core domain 13 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq] 15950183,12477932,12206714,11780052 164237 NM_172005,AL109656,CH471077,AF454505,BC104423,FB746608,FB746702 NP_742002,CAI21959,EAW75820,EAW75821,AAN70988,Q8IUB5,AAI72328,CAT04632,CAT04669 Hs.406733,Hs.690734 C20orf138|WAP13|dJ601O1.3 protease inhibitor WAP13|protein WFDC13 protein-coding 1344525 WFDC2 WAP four-disulfide core domain 2 This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq] 1580863 17207965,1686187,19337252,18546615,17448597,16740002,16600032,15950183,15781627,15489334,12839961,21115941,12477932,12206714,11965550,11780052,10570965,9685187,9373149,8125298,1693137,16169070,19732003,19774626,19927341,20171287,20490961,20593939,20381233 10406 NM_006103,AL031663,CH471077,AF330259,AF330260,AF330261,AF330262,AK225528,AK290288,AK311966,AY212888,BC039816,BC046106,BI759775,CR456977,X63187,GM744623,GN341844 ADQ32963,NP_006094,CAB37641,EAW75836,EAW75837,EAW75838,EAW75839,EAW75840,AAL37485,AAL37486,AAL37487,AAL37488,BAF82977,AAO52683,AAH46106,CAG33258,CAA44869,Q14508,ACE87267,ACE86584,CAV31701,CAY39341,CAM28247 Hs.2719 EDDM4|HE4|MGC57529|WAP5|dJ461P17.6 WAP domain containing protein HE4-V4|WAP four-disulfide core domain protein 2|epididymal protein 4|epididymal secretory protein E4|epididymis-specific, whey-acidic protein type, four-disulfide core|major epididymis-specific protein E4|putative protease inhibitor WAP5 protein-coding 1313240 WFDC3 WAP four-disulfide core domain 3 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq] 1580863 15950183,15489334,12477932,12206714,11780052,10680116 140686 NM_080614,AL050348,CH471077,AF488306,AL591713,BC026014,BC102013,BC102014,BX091378 NP_542181,EAW75813,EAW75814,EAW75815,EAW75816,EAW75817,AAN70993,CAC39444,AAH26014,AAI02014,AAI02015,Q5QPF1,Q8IUB2,AAI46427,AAI48861 Hs.419126 WAP14|dJ447F3.3 OTTHUMP00000031166|OTTHUMP00000196629|WAP four-disulfide core domain protein 3|protease inhibitor WAP14|putative protease inhibitor WAP14|whey acidic protein 14 protein-coding 1312741 WFDC5 WAP four-disulfide core domain 5 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. 1580863 19906707,17207965,17511965,16462094,15489334,12975309,12477932,12206714,11780052,10680116,10441517 149708 NM_145652,CH471077,Z93016,AY038181,AY358822,BC039173 NP_663627,EAW75877,EAW75878,CAD27771,CAI19816,AAK72468,AAQ89181,AAH39173,Q8TCV5,ADQ32433 Hs.375031 PRG5|WAP1|dJ211D12.5 WAP four-disulfide core domain protein 5|p53-responsive gene 5 protein|protease inhibitor WAP1|putative protease inhibitor WAP1 protein-coding 1352143 WFDC6 WAP four-disulfide core domain 6 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq] 1580863 15950183,12477932,12206714,11780052 140870 CH471077,AF411861,BC101600,BC101604,NM_080827,AL031663 CAI21404,CAI21405,EAW75833,EAW75834,EAW75835,AAN03684,AAI01601,AAI01605,Q5JYQ5,Q9BQY6,NP_543017 Hs.673237 C20orf171|MGC126649|MGC126653|WAP6|dJ461P17.11 OTTHUMP00000043709|WAP four-disulfide core domain protein 6|protease inhibitor WAP6|putative protease inhibitor WAP6 protein-coding 1347537 WFDC8 WAP four-disulfide core domain 8 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq] 1580863 15950183,12206714,11780052 90199 NM_181510,NM_130896,AL031663,AL121778,AL133571,CH471077,AF492015,AF492016,AL591715,HC007386 NP_852611,NP_570966,CAI21403,CAI22977,EAW75828,EAW75829,AAN70997,AAN70998,CAC39449,Q8IUA0,AAI72333,CBH19498 Hs.116128 C20orf170|WAP8|dJ461P17.1 WAP four-disulfide core domain protein 8|WAP motif protein 1|protease inhibitor WAP8|putative protease inhibitor WAP8 protein-coding 1350341 WFDC9 WAP four-disulfide core domain 9 The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq] 15950183,15489334,12477932,12206714,11780052 259240 NM_147198,AL031671,CH471077,AY047610,BC069295,BC101652,BC101656 NP_671731,CAI22432,EAW75826,AAK97772,AAH69295,AAI01653,AAI01657,Q8NEX5,ADR82723 Hs.249828 MGC126701|MGC126705|WAP9|dJ688G8.2 protein WFDC9 protein-coding 1342711 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq] 1580863 12709070,12477932,11928817,11274388,11157797,18596030,16791741,15146197,21054789 117166 NM_053284,AE006464,CH471112,Z84479,AF422194,AK075356,AK128777,AK314757,BC101602,BC101606,CN425794 NP_444514,AAK61237,EAW85790,AAL18839,BAC11566,BAG37295,AAI01603,AAI01607,Q96NZ8 Hs.345818 C16orf12|MGC126651|MGC126655|RJD2|WFIKKN GASP-2|WAP, FS, Ig, KU, and NTR-containing protein|WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing protein|WAP, kazal, immunoglobulin, kunitz and NTR domain-containing protein 1|growth and differentiation factor-associated serum protein 2|hGASP-2 protein-coding 1346693 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq] 18596030,16344560,12975309,12709070,12595574,11928817,11329013,12477932,20026378,21054789 124857 NM_175575,AC091062,CH471109,AF468657,AK127743,AK131196,AK312821,AL537450,AY358142,BC140842,BC140844,BG221308,BQ954191,DB235333 NP_783165,EAW94579,EAW94580,AAL77058,BAG54563,BAD18391,BAG35678,AAQ88509,AAI40843,AAI40845,Q6ZNI4,Q8TEU8 Hs.211475 GASP-1|WFIKKNRP|hGASP-1 WAP, FS, Ig, two KU and NTR module related protein|WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing-related protein|WAP, kazal, immunoglobulin, kunitz and NTR domain-containing protein 2|WFIKKN-related protein|growth and differentiation factor-associated serum protein 1|multivalent protease inhibitor protein protein-coding 731649 WFS1 Wolfram syndrome 1 (wolframin) This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1599813,1580863 19598235,19602701,19720844,19734900,19741467,19794065,19814620,19833888,19862325,19877185,20028947,20069065,20160352,20203524,20215779,20361036,20384434,20490451,20509872,7987399,16169070,20712903,20816152,20879858,20889853,16806192,16550584,16195229,16151413,16043233,16005363,15912360,15852062,15605410,15489334,15473915,15277431,15234338,14968315,12955714,12913071,12782971,12754709,12707947,12650912,12605098,12477932,12107816,12073007,11920861,11916957,11709538,11709537,11317350,11295831,11181517,11161832,10760554,10679252,10624825,10521293,10424813,8595423,17947299,16989814,14527944,9817917,9771706,11181571,19502414,19380854,19330314,19328217,19324937,19279076,19258739,19258404,19139842,19115052,19082521,19042979,19020324,18991055,18984664,18853134,18806274,18694974,18688868,18660851,18597214,18591388,18568334,18566338,18544103,18518985,18426861,18212765,18197395,18060660,18040659,17719176,17603484,17568405,17517145,17492394,16965966,16876316,20581827,19913121,20571754,20580033,20628086,20802253 1599813 7466 NM_006005,NG_011700,NM_001145853,AC116317,CH471131,AF084481,AK295986,AK312897,BC030130,BC069213,CR609097,Y18064 NP_005996,NP_001139325,EAW82396,EAW82397,EAW82398,AAC64943,BAG58761,BAG35744,AAH30130,CAA77022,O76024,ABW03561 Hs.518602,Hs.728249 FLJ51211|WFRS|WFS|WOLFRAMIN OTTHUMP00000217278|wolframin protein-coding 1353350 WFS2 Wolfram syndrome 2 10739754 54117 1606472 WHAMM WAS protein homolog associated with actin, golgi membranes and microtubules 18812086,18614018,18226259,14702039,11853319 123720 NM_001080435,AC044907,CH471188,AB075851,AK097947,AK126887 NP_001073904,EAW62438,BAB85557,BAC05201,Q8TF30,AAI67774 Hs.377360 KIAA1971|WHDC1 WAS protein homology region 2 domain containing 1|WAS protein homology region 2 domain-containing protein 1|WASP homolog-associated protein with actin, membranes and microtubules|WH2 domain-containing protein 1 protein-coding 1604174 WHAMML1 WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 18226259,14702039,12477932 339005 NR_003521,AC138649,AL833132,BC018097,BC044610,BC048987,BC093703,BC093705,DQ309039,DQ309040 ABD73923,ABD73924 Hs.727755 WHDC1L1 pseudo 1602145 WHAMML2 WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene) 14702039,12477932,10332034 440253 NR_026589,AC055876,AF129926,AK091254,BC035099,BC066982,BC150524 Hs.558967 FLJ33935|WHDC1L2 pseudo 1346353 WHCR Wolf-Hirschhorn syndrome chromosome region 7467 1317450 WHSC1 Wolf-Hirschhorn syndrome candidate 1 This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq] 1580863 18029348,9618163,19481544,19121287,19059936,18182627,18172012,18156491,18036184,17942756,17719568,17239852,17081983,16682010,16197452,16115125,15734578,15677557,15489334,15257719,12715353,12477932,12433679,11337357,11252005,11152655,10945609,10470851,9787135,9354676,9207791,9063753,8889548,19454010,20634891 7468 EU733655,NM_133335,NM_133330,NM_133331,NM_007331,NM_133334,NG_009269,AC105448,AF178206,AF178219,AL132868,CH471131,AB029013,AF071593,NM_001042424,AF083386,AF083387,AF083388,AF083389,AF083390,AF083391,AF330040,AI339675,AI695058,AJ007042,AK026939,AK289697,AY694128,BC020545,AF071594,BC032731,BC052254,BC070176,BC094825,BC110899,BC141815,BC144464,BC152412,BM982021,CX866583,DQ185035 CAM15221,CAM15220,NP_001035889,NP_579890,NP_579877,NP_579878,NP_015627,NP_579889,AAF23369,AAF23370,EAW82548,EAW82549,EAW82550,EAW82551,EAW82552,EAW82553,EAW82554,EAW82555,EAW82556,EAW82557,EAW82558,BAA83042,AAC24150,AAC24151,AAD19343,AAD21770,AAD21771,AAD19344,AAD19345,AAD19346,AAK00344,CAB45386,BAF82386,AAU09264,AAH20545,AAH52254,AAH70176,AAH94825,AAI41816,AAI52413,ACE75882,O96028,Q05CW4,AAI66668,CAM15222 Hs.113876 FLJ23286|KIAA1090|MGC176638|MMSET|NSD2|REIIBP|TRX5|WHS IL5 promoter REII region-binding protein|OTTHUMP00000159146|OTTHUMP00000196943|OTTHUMP00000220795|OTTHUMP00000220798|multiple myeloma SET domain containing protein type III|multiple myeloma SET domain-containing protein|nuclear SET domain-containing protein 2|probable histone-lysine N-methyltransferase NSD2|protein trithorax-5|trithorax/ash1-related protein 5|wolf-Hirschhorn syndrome candidate 1 protein protein-coding 1319069 WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. The function of the protein has not been determined. Two alternatively spliced variants have been described. [provided by RefSeq] 1599847 18029348,16682010,15983384,15489334,14702039,12477932,11986249,11549311,20940404,11374904,10802047,20936779,20599755 1599847 54904 BC012059,BC062631,BC073858,BC101717,BC107734,BC113469,BC115006,BC115007,BC143510,CR596467,NM_017778,AC087362,AC087623,CH471080,AF255649,AF318339,AF332468,AF332469,AJ295990,AJ295991,AJ295992,AK000360,AK022560,AK127594,AL832895,BC000030,NM_023034,BC007787,NG_023292 AAH12059,AAH62631,AAI01718,AAI07735,AAI13470,AAI15007,AAI43511,Q8WYV9,Q9BZ95,NP_075447,NP_060248,EAW63319,EAW63320,EAW63321,EAW63322,AAG44637,AAL55846,AAK00354,AAK00355,CAC28350,CAC28351,CAC28352,BAA91110,BAB14099 Hs.608111 DKFZp667H044|FLJ20353|MGC126766|MGC142029|NSD3|pp14328 WHSC1-like 1 isoform 9 with methyltransferase activity to lysine|WHSC1-like protein 1|Wolf-Hirschhorn syndrome candidate 1-like 1 protein|histone-lysine N-methyltransferase NSD3|nuclear SET domain-containing protein 3|protein whistle|wolf-Hirschhorn syndrome candidate 1-like protein 1 protein-coding 1346591 WHSC1L2P Wolf-Hirschhorn syndrome candidate 1-like 2 (pseudogene) 11549311 100128016 NG_009508,AC055813 HsT36289|NSD4P|WHSC1L1P pseudo 1313651 WHSC2 Wolf-Hirschhorn syndrome candidate 2 This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq] 1580863 17643375,20379614,15302935,14702039,12715353,12612062,12563561,12477932,11940650,11387440,11280764,11150502,11112772,10199401,9373149,16344560,15489334,9110174,9063753,8619474,8125298,16838299,10409432,12676794,17499042,17081983,16964243 7469 NM_005663,NG_009232,AL132868,CH471131,AB044549,AF101434,AF131751,AI560345,AK001304,AK094040,AK095737,AK126056,AK222853,BC002764,CR599442,DB082393 NP_005654,EAW82545,EAW82546,EAW82547,BAB18651,AAC72982,AAD20034,BAG50890,BAG52802,BAG53117,BAG54283,BAD96573,AAH02764,Q53GS8,Q9H3P2,ACE87100,ACE86425,CAM15219 Hs.21771 FLJ10442|FLJ25112|NELF-A|NELFA|P/OKcl.15 OTTHUMP00000211580|negative elongation factor A|wolf-Hirschhorn syndrome candidate 2 protein protein-coding 1601845 WIBG within bgcn homolog (Drosophila) 19410547,14702039,12483225,12477932,12438415,18026120,18482256 84305 NM_032345,NM_001143853,AC023055,AC025162,CH471054,AJ459406,AK096922,BC006135,BC008292,BC009627,BC014976,CR606391,CR613330,DB466388 NP_115721,NP_001137325,EAW96847,EAW96848,CAD30677,BAC04897,AAH06135,AAH09627,AAH14976,Q96DC3,Q9BRP8 Hs.505687,Hs.524488 MGC13064|PYM partner of Y14 and mago|protein wibg homolog protein-coding 731989 WIF1 WNT inhibitory factor 1 WNT proteins are extracellular signaling molecules involved in the control of embryonic development. This gene encodes a secreted protein, which binds WNT proteins and inhibits their activities. This protein contains a WNT inhibitory factor (WIF) domain and 5 epidermal growth factor (EGF)-like domains. It may be involved in mesoderm segmentation. This protein is found to be present in fish, amphibia and mammals. [provided by RefSeq] 2291868,727214,2291870,1643593,2291869,2293188,2298535,2291871,1580863 10201374,19496188,19453261,19307728,19174556,19085002,19054571,18701434,18256869,18093228,18079202,18005197,17384664,17171686,17094650,17012225,16609023,16525492,16516163,16476441,16428476,16427602,16007117,15735743,15489334,15389810,15377999,15351726,12975309,12477932,20573255,20844743,20376066,20811686,21052890,19528461,19570204,19690140,19773381,19787276,19885602,19887605,19926868,20066439,20119713,20197388,20334650,20364027,20395289,20421722,20697356,20874008,20596629 2291868,727214,2291870,1643593,2291869,2293188,2298535,2291871 11197 NM_007191,AC026124,AC135895,CH471054,AF122922,AK301818,AL711431,AY358344,BC018037,BX647427,DB560069,DC315426 NP_009122,EAW97146,EAW97147,AAD25402,BAG63265,AAQ88710,AAH18037,Q9Y5W5,ABM83320,ABM86535 Hs.284122 WIF-1 wnt inhibitory factor 1 protein-coding 736993 WIPF1 WAS/WASL interacting protein family, member 1 This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] 1580863 16055720,17474147,18029348,19041431,19399471,19817875,11687573,10878810,10358064,10202051,10087612,9694849,12620186,9405671,19155218,18258743,17949983,17890224,17711847,17213309,16606694,16488394,16344560,15489334,15469902,14702039,12591280,12504004,12477932,12437929,12372256,12147689,12029088,11869681,20936779 7456 NM_001077269,NM_003387,AC010894,AC104595,CH471058,AA599214,AA903457,AF031588,AF106062,AK097901,AK301271,AK304194,AL529597,AL832275,BC002914,BC045584,BG820214,BM475558,BM542331,BQ016063,BQ441937,BX640870,CR607172,CR618785,CR621647,CR622538,DA674627,X86019,BC110288 NP_001070737,NP_003378,AAY14708,EAX11129,EAX11130,EAX11131,EAX11132,EAX11133,EAX11134,EAX11135,AAC03767,AAD45972,BAG62833,BAG65074,AAH02914,AAI10289,CAE45928,CAA60014,O43516,Q2YDC4,ACE87497,ACE86810 Hs.128067 MGC111041|PRPL-2|WASPIP|WIP OTTHUMP00000163178|OTTHUMP00000205183|WAS/WASL-interacting protein family member 1|WASP-interacting protein|Wiskott-Aldrich syndrome protein interacting protein|protein PRPL-2|wiskott-Aldrich syndrome protein-interacting protein|wiskott-aldrich syndrome protein interacting protein protein-coding 1603178 WIPF2 WAS/WASL interacting protein family, member 2 This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq] 20936779,16344560,15498874,15489334,15146197,14702039,14506234,12477932,12213210,11829459,8889548,8619474,16055720 147179 NM_133264,AC068669,AC080112,CH471152,AB043786,AF370396,AJ431177,AK026913,AK055025,AK055057,AK289578,AK289779,AK290301,AK311544,AK315836,AL834239,AU138315,BC019706,BC025965,BC030561,BC043408,BC047435,BC064504,BC065551,CB240594,CN404607,CR607942,U90911 NP_573571,EAW60648,EAW60649,BAB85113,AAQ15232,CAD24007,BAG51456,BAF82267,BAF82468,BAF82990,BAF98727,CAH56360,AAH65551,Q8TF74 Hs.421622,Hs.705989 WICH|WIRE WAS/WASL-interacting protein family member 2|WASP-binding protein|WASP-interacting protein-related protein|WIP- and CR16-homologous protein|WIP-related protein protein-coding 1605143 WIPF3 WAS/WASL interacting protein family, member 3 12372256,14506234,17573773,14702039,12853948,11553796 644150 NM_001080529,AC004912,AK094250 NP_001073998,A6NGB9,AAI56552 Hs.709280 CR16|FLJ36931 Corticosteroids and regional expression protein 16 homolog|OTTHUMP00000202318|OTTHUMP00000202319|WAS/WASL-interacting protein family member 3 protein-coding 1605986 WIPI1 WD repeat domain, phosphoinositide interacting 1 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI1, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM] 15602573,15020712,17618624,15489334,14702039,12477932,16169070,20562859,19936222 55062 NM_017983,AC007780,CH471099,AK000917,AK301830,AY691424,BC039867,CR597380,CR603211,CR613131,CR626829,DC380076 NP_060453,EAW89057,EAW89058,EAW89059,BAA91423,BAG63275,AAV80760,AAH39867,Q5MNZ9 Hs.463964 ATG18|ATG18A|FLJ10055|WIPI49 WD repeat domain phosphoinositide-interacting protein 1|WD40 repeat protein Interacting with phosphoInositides of 49kDa|WD40 repeat protein interacting with phosphoinositides of 49 kDa|WIPI 49 kDa|WIPI-1 alpha|atg18 protein homolog protein-coding 1606810 WIPI2 WD repeat domain, phosphoinositide interacting 2 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM] 14702039,12853948,12477932,11230166,11076863,10810093,9847074,16169070,11256614,16381901,15602573,15489336,15489334,20505359,20562859 26100 AY691425,AY691426,BC004116,BC007596,BC016912,BC021012,BC021068,BC021200,BI561383,BX537624,CR533530,CR590803,CR592717,CR597358,CR615883,CR621388,CR623484,CR624233,NM_001033518,NM_016003,NM_001033519,NM_001033520,AC093376,CH471144,AF151808,AK023041,AK024279,AK124974,AK125007,AK315468,AL080155,NM_015610 AAV80761,AAV80762,AAH04116,AAH07596,AAH21200,CAH56163,CAG38561,Q63Z38,Q6ZV51,Q9Y4P8,CAL37779,CAL38494,CAL38504,NP_056425,NP_001028690,NP_057087,NP_001028691,NP_001028692,AAQ96865,AAQ96866,AAQ96867,EAW87324,EAW87325,EAW87326,EAW87327,EAW87328,AAD34045,BAG51152,BAG51284,BAC86012,CAB45746 Hs.122363 ATG18B|Atg21|CGI-50|DKFZp434J154|DKFZp686P02188|FLJ12979|FLJ14217|FLJ42984|WIPI-2 WD repeat domain phosphoinositide-interacting protein 2|WD40 repeat protein interacting with phosphoinositides 2|WIPI49-like protein 2 protein-coding 69487 WISP1 WNT1 inducible signaling pathway protein 1 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 1580863 17353931,9843955,19453261,19339243,19287097,19282865,19240061,19180479,18701807,18404666,18006828,17657846,17593496,17406949,17381509,16421571,15650268,15489334,12805222,12717393,12529380,12477932,11855747,11782444,11751417,11598131,11571650,10716946,20372786,20628624,20677014,17579708,19238344,19926868,20010302,20074638,20379614,20403915 8840 NM_003882,NM_080838,AF192304,AF223404,CH471060,AB034725,AF100779,AK293031,AK301508,AK315822,AW291472,AY196486,AY196487,AY196488,BC074840,BC074841,EF025923 NP_003873,NP_543028,AAF35350,EAW92162,EAW92163,BAB17849,AAC96321,BAF85720,BAG63017,BAF98713,AAP43924,AAP43925,AAP43926,AAH74840,AAH74841,ABK13678,O95388,Q5JBS6,Q5JBS7,Q5JBS8 Hs.492974 CCN4|WISP1c|WISP1i|WISP1tc CCN family member 4|WISP-1|WNT1 induced secreted protein 1|WNT1-inducible-signaling pathway protein 1|Wnt-1 inducible signaling pathway protein 1|wnt-1 signaling pathway protein 1|wnt-1-induced secreted protein protein-coding 1351496 WISP2 WNT1 inducible signaling pathway protein 2 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq] 1580863 9843955,19453261,18794149,18559502,18070926,17406949,17383817,16939222,16525711,16038875,15798095,15489334,15340161,14981145,14767469,12975309,12659671,12477932,12056810,11855747,11780052,10358067,20010302,20372786 8839 NM_003881,AL139352,CH471077,AF074604,AF083500,AF100780,AK129660,AK313853,AY358915,BC017782,BC058074,BC064379,CR603485 NP_003872,CAB94788,CAH73886,EAW75902,EAW75903,AAC26794,AAC70350,AAC96322,BAC85210,BAG36581,AAQ89274,AAH17782,AAH58074,AAH64379,O76076,Q6PEG3,Q6ZPA9 Hs.592145 CCN5|CT58|CTGF-L CCN family member 5|OTTHUMP00000063227|WISP-2|WNT1-inducible-signaling pathway protein 2|connective tissue growth factor-like protein|connective tissue growth factor-related protein 58|wnt-1 signaling pathway protein 2 protein-coding 1345324 WISP3 WNT1 inducible signaling pathway protein 3 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1599850,1580863 9843955,19453261,19064006,18321996,17483925,17406949,17363178,17286957,16480948,16457688,15650268,15601861,15517620,15300987,14574404,12975309,12477932,12105881,12082632,10471507,7687569,20372786,20014943,20395207,20403915 1599850 8838 NM_003880,NM_198239,NG_011748,AL512299,CH471051,Z99289,AB075040,AF100781,AF143679,AY358349,AY358350,BC012028,BC035250,BC102031,BC105940,BC105941 NP_003871,NP_937882,CAI19998,EAW48273,EAW48274,EAW48275,EAW48276,EAW48277,CAB16556,CAI42331,BAB78569,AAC96323,AAD31517,AAQ88715,AAQ88716,AAH12028,AAI02032,AAI05941,AAI05942,O95389,O95958,Q3T1A9,Q8WYK7 Hs.558428 CCN6|LIBC|MGC125987|MGC125988|MGC125989|PPAC|PPD CCN family member 6|OTTHUMP00000203189|OTTHUMP00000203320|WISP-3|WNT1-inducible-signaling pathway protein 3 protein-coding 1605386 WIT1 Wilms tumor upstream neighbor 1 This gene is located upstream of the Wilms tumor 1 (WT1) gene; these two genes are bi-directionally transcribed from the same promoter region. The WT1 gene is a tumor suppressor gene that has been implicated in Wilms tumor, and it is expressed in cells of mesodermal origin. This gene and the WT1 gene have the same temporal and cell-restricted expression pattern, although the expression of this gene is less abundant than WT1 expression. WT1 is involved in the development of the urogenital system, whereas the role of this gene in embryogenesis is unclear. This gene appears to produce antisense RNA transcripts that help regulate the WT1 gene. It has been found that methylation of this gene is implicated in chemoresistant acute myeloid leukemia. [provided by RefSeq] 2173145,16554811,16344560,15687485,15489334,12477932,10340388,8406502,8208551,17210670 51352 NR_023920,AL049692,CH471064,X69950,BC002734,BC096708,BC098290,BC100673,BX110205,DB262871,L25110,M60614 CAC39219,CAX14846,EAW68219,CAA49572,AAA63269,Q06250 Hs.567499 MGC120207|MGC120208|MGC120209|WIT-1|WIT1|WT1-AS|WT1-AS1|WT1AS|dJ74J1.1 miscrna 1607009 WIZ widely interspaced zinc finger motifs 16702210,14702039,12477932,12226707,9795207,9790763 58525 NM_021241,AC006128,AC007059,AC011492,CH471106,AK027615,AK091183,AK122890,AK131404,AL390184,BC002329,BC007551,BC014220,BC062360,BC098445,BC136641,BC144332,BC048293 NP_067064,AAC97985,AAD19817,AAD19818,EAW84480,BAB55234,BAG52301,BAG53783,BAD18551,CAB99102,AAH02329,AAH07551,AAH62360,AAH98445,AAI36642,AAI44333,O95785 Hs.442138 ZNF803 WIZ zinc finger|protein Wiz|widely-interspaced zinc finger motifs|widely-interspaced zinc finger-containing protein|zinc finger protein 803 protein-coding 1343607 WMS Weill-Marchesani syndrome 8914744 1343905 WNK1 WNK lysine deficient protein kinase 1 The WNK1 gene encodes a cytoplasmic serine-threonine kinase expressed in distal nephron.[supplied by OMIM] 1580828,1580829,2298790,2298532 19913121,20628086,15060842,15455397,15911806,16344560,16534117,16541075,16713569,19609280,19651702,19739668,20379614,20410525,4351257,8889549,10660600,15350218,19363035,19361385,19347040,19244242,19228968,19068477,18955660,18809789,18591455,18550644,18521183,17957199,17456004,17392271,17380208,17190791,17081983,16964243,16949040,16832045,16820787,16669787,16428287,16403833,16301342,16263722,16204408,16172412,15883153,15686619,15583131,15489334,15324660,15203218,14681216,14645531,14611643,12477932,12374799,12168954,11571656,11498583,10869238,9205841,8889548,2507249,12748276,20936779,20937822 1580828,1580829,2298790,2298532 65125 AI074334,BC130467,BC130469,BJ997509,BK004108,BX644268,DA720959,FJ515833,N57692,NM_001184985,NM_014823,NM_213655,NM_018979,NG_007984,AC004765,AC004803,CH471116,AB002342,AF061944,AJ296290,AY231477,BC013629,BC021121,BC035146,BC044600,BC071959,BC094862,BC141881,BM716053,CD629562 AAI30468,AAI30470,ACS13726,DAA04494,NP_001171914,NP_055638,NP_998820,NP_061852,EAW88951,EAW88952,EAW88953,EAW88954,EAW88955,EAW88956,EAW88957,EAW88958,BAA20802,AAF31483,CAC15059,AAO46160,AAH13629,AAI41882,Q96CZ6,Q9H4A3,AAI72444 Hs.356604 HSAN2|HSN2|KDP|KIAA0344|MGC163339|MGC163341|PHA2C|PRKWNK1|PSK|p65 erythrocyte 65 kDa protein|prostate-derived sterile 20-like kinase|protein kinase lysine-deficient 1|protein kinase with no lysine 1|protein kinase, lysine deficient 1|serine/threonine-protein kinase WNK1 protein-coding 1349205 WNK2 WNK lysine deficient protein kinase 2 The protein encoded by this gene is a cytoplasmic serine-threonine kinase that contains cysteine in place of the lysine found at the conserved ATP-binding location in subdomain II of protein kinases. Since this protein does have kinase activity, it is possible that another lysine in the kinase subdomain I can substitute for the missing conserved lysine. [provided by RefSeq] 17474147,18593598,19001526,19724895,19851296,20198315,20379614,17667937,17578925,16713569,15489334,14702039,12477932,11571656,11498583,11280764,11214970,9610721,20936779 65268 NM_006648,AL354991,AL390760,AL583839,CH471089,AB044546,AB051547,AF039702,AJ242724,AK000694,AK093910,AK096968,AK124314,AK310390,BC037965 NP_006639,CAI14449,CAI14450,CAO03638,CAO03639,CAO03640,CAH73069,CAH73070,CAO03646,CAO03647,CAO03648,CAI12344,CAI12345,CAO03350,CAO03351,EAW62857,EAW62858,EAW62859,EAW62860,BAB18648,BAB21851,AAC18051,CAB44308,AAH37965,O60536,Q9Y3S1 Hs.654856 KIAA1760|NY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43 OTTHUMP00000196928|OTTHUMP00000196929|antigen NY-CO-43|mitogen-activated protein kinase kinase kinase|protein kinase lysine-deficient 2|protein kinase with no lysine 2|protein kinase, lysine deficient 2|serine/threonine-protein kinase WNK2|serologically defined colon cancer antigen 43 protein-coding 1346670 WNK3 WNK lysine deficient protein kinase 3 Members of the 'with no lysine' (WNK) kinase family, such as WNK3, are serine-threonine protein kinases that lack the almost invariant catalytic lysine in subdomain II, which is important for binding ATP in the catalytic site. Instead, these kinases have a conserved lysine in subdomain I that is thought to provide this function (Holden et al., 2004 [PubMed 15194194]).[supplied by OMIM] 19913121,20628086,16501604,19470686,18768590,18701621,18498374,17975670,15772651,15194194,11571656,11498583,10997877,7757816,20525693,14702039,16275913,17961084,19636250,20094755 65267 NM_020922,NM_001002838,AL049793,AL591766,CH471154,Z84469,AB046786,AJ409088,AY082340,AY352048,Z44479,AK054999,AK124653,NG_021259,R44257 NP_065973,NP_001002838,CAI43128,CAI43129,CAI40707,CAI40708,CAI40709,EAW93175,EAW93176,CAI42732,CAI42733,BAB13392,CAC32455,AAL99253,AAR89465,Q9BYP7,AAI56470 Hs.92423 FLJ30437|FLJ42662|KIAA1566|PRKWNK3 OTTHUMP00000023370|protein kinase with no lysine 3|serine/threonine-protein kinase WNK3 protein-coding 1353270 WNK4 WNK lysine deficient protein kinase 4 The WNK4 gene encodes a serine-threonine kinase expressed in distal nephron.[supplied by OMIM] 1580828,1580830,2298790,629611 12107410,12477932,15930150,16147992,18793746,19016006,19401467,19706464,19875813,20513278,19340547,19330605,18755144,18703016,18312414,18096992,17634397,17360471,17018846,16820787,16688122,16403833,15824464,15309683,15292344,15110905,15070779,14967840,14769928,14702039,14616768,12905707,12719438,12515852,11571656,11498583,8889548,14563843,20525693,20561597,20931534 1580828,1580830,2298790,629611 65266 CA388932,NG_016227,NM_032387,AC016889,AC100793,CH471152,EU332870,AF390018,AJ309861,AJ316534,AK096003,AK096052,AK301963,BC136664,BC144356,BM683764 NP_115763,EAW60881,EAW60882,ABY87559,AAK91995,CAC32991,CAC48387,BAC04669,BAC04688,BAG63376,AAI36665,Q96J92 Hs.105448 PHA2B|PRKWNK4 protein kinase lysine-deficient 4|protein kinase with no lysine 4|serine/threonine-protein kinase WNK4 protein-coding 1344355 WNT1 wingless-type MMTV integration site family, member 1 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq] 1580863,2313743,2298848,2298804,2298863,2301993 16329837,17982423,19398721,19448422,19473496,19628668,19711366,19729480,19734317,19756656,19778454,19781444,19885602,19924227,19956716,19956832,2998762,2534596,20334650,20491588,20664938,19174556,20564229,19847889,15592430,2202907,10644691,19453261,19401692,19349579,19148501,19061838,18936100,18844223,18838960,18824543,18790633,18769117,18769115,18705344,18676739,18636547,18593917,18469861,18461473,18297060,18218837,18097596,18059186,18056036,17947472,17875805,17306035,17289346,17143299,17072303,17035233,16930536,16760136,16756720,16565090,16501043,16495219,16474850,16427602,15913453,15841445,15824740,15580286,15489334,15454084,15194563,15149841,14960582,14644163,12477932,12209999,12154096,12014624,11832495,11782388,11448771,11350055,11336703,11029007,10866835,10654605,10557084,10511339,10347172,9147651,3329717,3281802,11793365,19693690 2313743,2298848,2298804,2298863 7471 NM_005430,AC073610,CH471111,CQ970104,X03072,BC074798,BC074799,BT019429 NP_005421,EAW58030,CAI38639,CAA26874,AAH74798,AAH74799,AAV38236,P04628 Hs.248164 INT1 proto-oncogene Int-1 homolog|proto-oncogene Wnt-1|wingless-type MMTV integration site family, member 1 (oncogene INT1) protein-coding 1315958 WNT10A wingless-type MMTV integration site family, member 10A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq] 2313743,2300202,2300201,2301993,1580863 19559398,19453261,18787224,17847007,16953426,15489334,14702039,12477932,11350055,15040835,19471313,19863181,19896111,20585627 2313743,2300202,2300201 80326 NM_025216,NG_012179,AC073128,AF315943,CH471063,CQ970134,AB059569,AK024363,AK315081,AY009400,BC003544,BC034352,BC040026,BC052234 NP_079492,AAY24175,AAG45153,EAW70659,CAI38654,BAB55602,BAB14898,BAG37548,AAG38660,AAH03544,AAH34352,AAH52234,Q05BQ6,Q53S44,Q9BTP0,Q9GZT5,ACE86419 Hs.121540 FLJ14301|SSPS protein Wnt-10a protein-coding 1312744 WNT10B wingless-type MMTV integration site family, member 10B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq] 2313743,2300029,2301993,1580863,2326237 15135146,19458884,9787155,16344560,9121776,19453261,19075223,19056892,19016593,18515319,18465804,17761539,16477437,15489334,12477932,12437293,11713588,11350055,10937998,9441749,9284937,8167409,19913121,20579865,20628086,20628624,20635353 2313743,2300029,2326237 7480 DA530656,NG_023347,NM_003394,AC073610,AF028700,CH471111,CQ970136,AB070724,AK312906,BC096353,BC096354,BC096355,BC096356,U81787,X97057 NP_003385,AAC39549,EAW58028,EAW58029,CAI38655,BAB72181,BAG35752,AAH96353,AAH96354,AAH96355,AAH96356,AAB51685,CAA65769,O00744,Q4VAJ4 Hs.91985 SHFM6|WNT-12 OTTHUMP00000198404|OTTHUMP00000198405|WNT-10B protein|protein Wnt-10b protein-coding 1344477 WNT11 wingless-type MMTV integration site family, member 11 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq] 2299946,2313743,1304321,2299947,634517,2301993,1580863 19453261,20062060,20103596,20219091,20379614,18413325,17967789,16303743,15708567,15701629,15489334,15084607,12477932,11712081,8167409,15543138,19847889,20819778,20890934,9757009,19265664,18572162 2299946,2313743,1304321,2299947,634517 7481 NM_004626,AP000785,CH471076,CQ970138,Y13843,AB070218,AK075540,AK313570,BC074790,BC074791,BC113386,BC113388,BT019492,Y12692 NP_004617,EAW74988,EAW74989,CAI38656,CAA74159,BAB72099,BAC11683,BAG36343,AAH74790,AAH74791,AAI13387,AAI13389,AAV38299,CAA73223,O96014,Q5U0K5,Q8N2D3 Hs.108219 HWNT11|MGC141946|MGC141948 protein Wnt-11 protein-coding 1345805 WNT16 wingless-type MMTV integration site family, member 16 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq] 2313743,2301993,1580863 10500199,19101069,16769578,16007226,15756456,15489334,12853948,12477932,11095990,8167409,16258938,17200136,19863181,19951988 2313743 51384 NM_016087,NM_057168,AC006364,CH236947,CH471070,CQ970140,AF152584,AF169963,BC104919,BC104945 NP_057171,NP_476509,AAQ96872,EAL24346,EAL24347,EAW83556,EAW83557,CAI38657,AAD38052,AAD49351,AAI04920,AAI04946,Q9UBV4 Hs.272375 protein Wnt-16 protein-coding 736431 WNT2 wingless-type MMTV integration site family member 2 This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq] 2291875,2291878,2291879,2313743,2291877,2298863,2298848,2301993,2291874,727214,1580863,2326231 15507471,17948129,18600204,19444628,19734317,19857041,19895723,20492734,10557084,2971536,19666519,19421142,19239325,19058789,19038973,18949017,18703315,18184402,17534895,17386109,16407829,16132582,15900580,15896469,15878915,15489334,15048648,14702039,14533014,12853948,12690205,12477932,12147710,12138115,12063568,11840514,11712082,11449391,11290296,15040835,16258938,10347172,8168088,8167409,1846319,19913121,20628086,20628624 2291875,2291878,2291879,2313743,2291877,2298863,2298848,2291874,727214,2326231 7472 CR607798,CR610337,CR610720,CR612271,CR618429,CR621345,CR623703,CR625114,CR626404,X07876,NR_024047,AC002465,AC006326,CH236947,CH471070,CQ970106,AK056742,BC029854,BC078170,BT019608,CR590617,CR595599,NM_003391 CAA30725,P09544,ABM83383,ABM86595,NP_003382,AAB67043,AAD28351,EAL24355,EAW83525,CAI38640,BAG51800,AAH29854,AAH78170,AAV38415 Hs.567356 INT1L1|IRP Int-1-related protein|int-1-like protein 1|protein Wnt-2|secreted growth factor|wingless-related mmtv integration site 2 protein-coding 733303 WNT2B wingless-type MMTV integration site family, member 2B This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as human carcinogenesis. This gene produces two alternatively spliced transcript variants. [provided by RefSeq] 1580863,2313743,2298800,634517,2301993 11741304,15135146,17649721,19360354,19650845,11746496,15164427,16258938,17848411,9787155,20819778,20844743,8761309,18606951,16407296,16273293,15754012,14702039,12477932,12072409,11712082,10944466,9441749,8167409,19913121,20628086 2313743,2298800,634517 7482 NM_004185,NM_024494,AL109932,AL354760,CH471122,CQ970108,AB045116,AB045117,AF028701,AK127449,AK307185,AK312696,BC141825 NP_004176,NP_078613,CAI22706,CAI22709,CAI22710,CAI22309,CAI22310,CAI22311,EAW56519,CAI38641,BAB11984,BAB11985,AAC39552,BAG35575,AAI41826,Q93097 Hs.258575 WNT13|XWNT2 OTTHUMP00000012858|XWNT2, Xenopus, homolog of|protein Wnt-2b|wingless-type MMTV integration site family, member 13 protein-coding 1344120 WNT3 wingless-type MMTV integration site family, member 3 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq] 2313743,2298804,2298802,2298848,2291875,2301993,1599852,1580863 19724895,19851296,19863181,20190752,20198315,15588944,8168088,20890934,19421142,19365403,18787224,18606139,18563180,18413325,18313787,18309246,18044981,16890161,15489334,15293277,14872406,12477932,11788904,11604997,11076863,10557084,10431240,8244403,8167409,1846319,20672350 2313743,2298804,2298802,2298848,2291875,1599852 7473 NM_030753,NG_008084,AC004098,AC019319,AC217780,CH471231,CQ970110,AB067628,AY009397,BC112116,BC112118,BC114219,BF515681 NP_110380,EAW57705,CAI38642,BAB70502,AAG38657,AAI12117,AAI12119,AAI14220,P56703,AAI11601 Hs.445884 INT4|MGC131950|MGC138321|MGC138323 WNT-3 proto-oncogene protein|proto-oncogene Int-4 homolog|proto-oncogene Wnt-3 protein-coding 1317606 WNT3A wingless-type MMTV integration site family, member 3A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq] 2313743,2298863,2298848,2300202,2301993,1580863,2303791 20634891,19523451,19453261,19351711,19265664,19144919,18724388,18719101,18632632,18615587,18555765,18505824,18462958,18413325,18344425,18305214,18242164,17990294,17888180,17822920,17698587,17595165,17546602,17544413,17458904,17211448,17137849,16799642,16710414,16621789,16565323,16227623,15489334,15454084,14739301,14722104,14702039,12897152,12805222,12629517,12556519,12477932,12067714,12052822,11836627,11788904,11414706,10866835,10557084,8168088,8167409,10654605,16890161,17976063,19101069,20347274,20932509,20723538,20735988,19072540,20693288,19736317,19816934,19881541,19887570,19901330,20085589,20093360,20227366 2313743,2298863,2298848,2300202,2303791 89780 CH471098,CQ970112,AB060284,AK056278,BC103921,BC103922,BC103923,NM_033131,AL136379 EAW69829,CAI38643,BAB61052,BAB71136,AAI03922,AAI03923,AAI03924,P56704,Q3SY79,NP_149122,CAI23122 Hs.336930 MGC119418|MGC119419|MGC119420 protein Wnt-3a protein-coding 733867 WNT4 wingless-type MMTV integration site family, member 4 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq] 2291878,2313743,2291875,2301993,1599857,1580863,727218 19453261,19421142,19171330,19034702,18553255,18281035,18182450,18179883,18001722,17720811,16981135,16710414,16442268,16343436,15589122,15489334,15389636,15317892,15312687,15265686,15149334,12975309,12949260,12841867,12768078,12477932,12142017,11287180,11283799,10866835,9989404,9853965,8168088,8167409,2279700,10654605,12844346,15040835,16368682,16959810,17848411,17976063,20060343,20502698,20601957,20634891,20161747,19849868,19863181,19962424 2291878,2313743,2291875,1599857,727218 54361 NM_030761,NG_008974,AF335591,AL031281,AL445253,AY033057,CH471134,CQ970114,AA984007,AB061675,AF086347,AF316543,AK296058,AY009398,AY358947,BC007386,BC057781,BT020125 NP_110388,AAK25765,CAI19848,CAI19849,CAI19850,CAI22251,AAK50427,EAW95010,CAI38644,BAC23080,AAK51699,BAG58821,AAG38658,AAQ89306,AAH57781,AAV38928,P56705,Q5JYX2,Q8IUM6 Hs.611722,Hs.25766 SERKAL|WNT-4 WNT-4 protein|protein Wnt-4 protein-coding 1353257 WNT5A wingless-type MMTV integration site family, member 5A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98%, 98% and 87% amino acid identity to the mouse, rat and the xenopus Wnt5A protein, respectively. The experiments performed in Xenopus laevis embryos identified that human frizzled-5 (hFz5) is the receptor for the Wnt5A ligand and the Wnt5A/hFz5 signaling mediates axis induction. [provided by RefSeq] 2313743,634517,2291875,2301993,1580863 20554957,12839624,12952940,15040835,17952396,17956663,18287027,19099253,19251946,19467340,19473452,19492056,19520808,19561643,19651774,19696445,19760930,19802008,19849855,19874313,19878652,19910923,19918918,19940551,19946729,19956879,20008136,20032469,20083703,20101234,20379614,20525402,16344560,16169547,15735754,15592517,15389636,15067324,14702039,12841867,12805222,12482967,12477932,12244165,12165812,12086864,11956659,10557084,8889548,8537388,8167409,16601243,16569699,20376066,15588944,16258938,17848411,17976063,19847889,9787155,20890934,21115903,8288227,10491302,9054360,19582886,19453261,19399181,19244247,19177143,19171330,19148501,19074888,19063862,19061910,19048125,18990694,18794093,18703641,18656562,18632632,18615587,18541964,18477650,18462958,18456733,18420933,18413325,18174455,18174174,18172252,18032022,17992121,17986384,17967789,17937436,17709179,17546602,17525119,17486081,17463182,17458904,17426020,17227781,17035633,16996564,16914445,16880514,20454608,20628624,20634891,19277043,20518933,20639201 2313743,634517,2291875 7474 NM_003392,AC121764,CH471055,CQ970116,U39837,AI634753,AK021503,AK090582,AK290375,AK290869,AU118341,BC064694,BC074783,BF218039,BM728706,BU742635,EF028086,L20861,GN095169,GN368162 NP_003383,EAW65310,EAW65311,CAI38645,BAG52191,BAF83064,BAF83558,AAH64694,AAH74783,ABK20872,AAA16842,A0FKN4,P41221,Q6DK41,CAY02596,CAY86018 Hs.643085 hWNT5A OTTHUMP00000212837|OTTHUMP00000212861|WNT-5A protein|protein Wnt-5a protein-coding 1346792 WNT5B wingless-type MMTV integration site family, member 5B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq] 2313743,2298863,2298848,2298808,2301993,1580863 19453261,18555673,16189514,15972578,15489334,15386214,12477932,12165812,11445850,10866835,8167409,16258938,15135146,15731909,19486338,19577541,19863181 2313743,2298863,2298848,2298808 81029 NM_030775,NM_032642,AC005182,CH471116,CQ970118,AB060966,AB209228,AK290430,AY009399,BC001749 NP_110402,NP_116031,EAW88925,EAW88926,EAW88927,CAI38646,BAB62039,BAD92465,BAF83119,AAG38659,AAH01749,Q59G81,Q9H1J7,ABM82782,ABM85971 Hs.306051 MGC2648 WNT-5B protein|protein Wnt-5b protein-coding 1312067 WNT6 wingless-type MMTV integration site family, member 6 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. 2313743,2298863,2298848,2298845,2301993,1580863 20113781,17847007,16953426,16303743,15489334,12477932,11350055,10866835,10343101,9407023,8167409,2279700,20634891,16258938 2313743,2298863,2298848,2298845 7475 AC009974,AC073128,AF079522,AF315943,CH471063,CQ970120,AB059570,AK075522,AY009401,BC004329,BT007456,NM_006522,CB960823 NP_006513,AAY24174,AAD41674,AAG45154,EAW70658,CAI38647,BAB55603,BAC11668,AAG38661,AAH04329,AAP36124,Q53S45,Q8N2E5,Q9Y6F9,ABM81696 Hs.29764 protein Wnt-6 protein-coding 69159 WNT7A wingless-type MMTV integration site family, member 7A This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq] 2313743,2298863,2298848,2301993,2298847,1601222,1580863,4107045 20470940,16169070,19453261,19849868,20083228,20219685,20379614,8893824,9161407,9790192,19171330,19159115,19054571,18606951,18538017,18413325,18230341,17588571,17201809,16835228,16826533,15802269,15705594,15082716,14550385,12937339,12893825,12857724,12477932,11784006,11232041,11070089,8168088,8167409,20503388,20845993,12843296,15040835,16258938,18986540,20501643 2313743,2298863,2298848,2298847,1601222,4107045 7476 NM_004625,NG_008088,AC090646,CH471055,CQ970122,BC008811,D83175,U53476 NP_004616,EAW64173,EAW64174,CAI38648,AAH08811,BAA82509,AAC51319,O00755,ABM83949,ABM87266 Hs.72290 protein Wnt-7a|proto-oncogene Wnt7a protein|wingless-related mmtv integration site 7a protein-coding 1322906 WNT7B wingless-type MMTV integration site family, member 7B This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq] 2313743,2298699,2292645,2298863,2299932,2298848,2293491,2301993,2291878,1581694,1601222,1580863 19734317,19863181,16227623,15489334,14702039,12477932,11562755,10866835,9284940,8889548,8168088,8167409,12429992,15164427,16258938,12239632,20634891,17207965 2313743,2298699,2292645,2298863,2299932,2298848,2293491,2291878,1581694,1601222 7477 NM_058238,BX511035,CH471138,CQ970124,CR536603,AB062766,AF416743,AK123019,AK289526,BC034923,BM047487,CB853639 CAX15182,CAX15183,CAX15184,CAX15217,CAX15218,CAX15219,NP_478679,EAW73394,CAI38649,BAB68399,AAN32640,BAF82215,AAH34923,P56706,ACE87160,ACE86479,ADQ32118 Hs.512714 OTTHUMP00000206328|OTTHUMP00000206331|protein Wnt-7b protein-coding 1314861 WNT8A wingless-type MMTV integration site family, member 8A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. It encodes a protein which shows 81% amino acid identity to the mouse Wnt8A protein. [provided by RefSeq] 2313743,2301993,1580863 12477932,18413325,11956596,11408932,8167409,20890934 2313743 7478 NM_058244,AC113382,CH471062,CQ970126,AB057725,AY009402,BC144001,BC144497 NP_490645,EAW62165,EAW62166,EAW62167,EAW62168,CAI38650,BAB60960,AAG38662,Q9H1J5,AAI56845 Hs.591274 WNT8D OTTHUMP00000223361|OTTHUMP00000223458|WNT8d|protein Wnt-8a|protein Wnt-8d protein-coding 1316953 WNT8B wingless-type MMTV integration site family, member 8B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. 2313743,2301993,1580863 16385451,8661156,9536085,17390031,15164054,15146197,11956596,11788899,8167409,7635061,20972907 2313743 7479 NM_003393,AL133352,AL359759,CH471066,CQ970128,Y11108,AB073637,CN276452,X91940,Y11094 NP_003384,CAH73565,CAH71991,EAW49825,CAI38651,CAA71994,BAB83924,CAA63017,CAA71968,Q93098,AAI56633 Hs.421281 protein Wnt-8b protein-coding 1312797 WNT9A wingless-type MMTV integration site family, member 9A The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq] 2313743,2299944,2301993,2300156,1580863 20613673,19863181,8167409,9441749,19453261,17429723,17351820,16710414,15809769,15489334,12573259,12477932,11836627,11414706,11239392,16258938 2313743,2299944,2300156 7483 NM_003395,AF028702,AL360269,CH471098,CQ970130,AB060283,AK131041,BC111960,BC113431,HM015601 NP_003386,AAC39550,CAH71122,EAW69821,CAI38652,BAB61051,AAI11961,AAI13432,O14904,ADR82984,ADL14522 Hs.149504 MGC138165|MGC141991|WNT14 protein Wnt-9a|wingless-type MMTV integration site family, member 14 protein-coding 1319983 WNT9B wingless-type MMTV integration site family, member 9B The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. [provided by RefSeq] 2313743,2301993,1580863 20634891,20672350,20379614,20890934,9441749,19171330,18413325,12975309,12573259,12477932,11713592,11604992,8167409,16258938 2313743 7484 NM_003396,AC015855,AF028703,CH471231,CQ970132,AB063483,AK127268,AK127615,AY358217,BC064534 NP_003387,AAC39551,EAW57702,EAW57703,CAI38653,BAB70499,BAC86908,BAC87058,AAQ88584,AAH64534,O14905,Q6ZS96,Q6ZSP0 Hs.326420 WNT14B|WNT15 protein Wnt-14b|protein Wnt-9b|wingless-type MMTV integration site family, member 15 protein-coding 1605665 WRAP53 WD repeat containing, antisense to TP53 19170196,19625176,19692168,19797907,20494116,19179534,19571673,19342896,19339270,18676680,17683073,17081983,15489334,15302935,14702039,12477932,9373149,8125298,19250907,18978339,21205863,21072240 55135 NM_001143990,NM_001143991,NM_018081,NM_001143992,AC087388,CH471108,AK001247,AK056669,AK092370,AK225273,AK225411,AK303246,AY766322,AY766323,BC002336,CR603263,CR615409,CR616746,CR617478,CR622832,CR624035,DQ431240,DQ431241 NP_001137462,NP_001137463,NP_060551,NP_001137464,EAW90136,EAW90137,EAW90138,EAW90139,BAA91579,BAG51781,BAG64330,AAW92115,AAW92116,AAH02336,ABD92817,ABD92818,Q08ET8,Q9BUR4 Hs.437460 FLJ10385|TCAB1|WDR79 OTTHUMP00000166047|WD repeat domain 79|WD repeat-containing protein 79|WD-encoding RNA antisense to p53|WD40 protein Wrap53|WD40 repeat-containing protein encoding RNA antisense to p53|telomerase Cajal body protein 1 protein-coding 1352136 WRB tryptophan rich basic protein This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 18029348,20200978,12189208,10830953,9480850,9544840,15489334,12477932 7485 NM_001146218,AF064861,AL163279,CH471079,AK293113,AK293866,AK297186,AK299144,AK299245,NM_004627,AK310268,AW001614,BC012415,BC111393,CR600902,CR618183,DB498697,DB500750,Y12478 NP_004618,NP_001139690,CAB90454,EAX09645,EAX09646,EAX09647,EAX09648,EAX09649,BAF85802,BAH11617,BAG59675,BAG61196,BAG61276,AAH12415,AAI11394,CAA73081,O00258,Q0VGA7 Hs.715846,Hs.198308 CHD5|FLJ51808 OTTHUMP00000069046|OTTHUMP00000109172|OTTHUMP00000165173|congenital heart disease 5 protein|tryptophan-rich protein protein-coding 1318280 WRN Werner syndrome, RecQ helicase-like This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq] 1580819,1580820,1580821,1580825,1580824,1599418,1580863 19913121,20447876,20628086,20808731,11399766,15735006,19170196,19487340,19591272,19615732,19625176,19652551,19692168,19734539,19773279,19896421,19945966,19948975,19966859,20008939,20157511,20300059,20379614,20453000,20508983,20522537,16728435,15149862,10783163,12181313,10373438,10871376,9288107,11433031,17715146,17563354,17611195,16673358,9681877,17115688,12882351,18203716,18212065,17498979,9618508,11420665,12944467,19573080,19502800,19282863,19262689,19205873,19116388,19077115,19056482,18982914,18978339,18852298,18830263,18771289,18677484,18676680,18670736,18639560,18596239,18596042,18558713,18524993,18312663,18271933,18270339,18250621,18209099,18084250,17996922,17911100,17903301,17875398,17764108,17624410,17541157,17521388,17317667,17301258,17266675,17148451,17015833,16906373,16807477,16804003,16738949,16723399,16622405,16449207,16412221,16405962,16380375,16339893,16287861,16223718,16150736,16132834,16098926,16087220,16030011,15995249,15965237,15845538,15733840,15591207,15489508,15467456,15385537,15355988,15342556,15336909,15246744,15187093,18029348,20813000,20855428,17173071,20346739,20477760,20600238,20157518,20443122,15084309,15037256,15026416,14734561,14688284,14657243,14612404,14596914,14534320,14499497,12937274,12934712,12842909,12810661,12750383,12704184,12665521,12633936,12629512,12384494,12356323,12244128,12242278,12177300,12080066,12067711,12034829,12020873,11971179,11919194,11889123,11863428,11809708,11798788,11598021,11498731,11427532,11328876,11301316,11252893,11186893,11161804,11027336,10880505,10871373,10839545,10779560,10608806,10220139,10206685,10069711,10049920,9774636,9671808,9450180,9225981,9021029,8602509,1741060,14578343,17043893,20516064,16326861,20585393,20691646,21098121 1580819,1580820,1580821,1580825,1580824,1599418 7486 NM_000553,NG_008870,AB003173,AC009563,AC084736,AF032113,AF181896,AF181897,AY442327,CH471080,L76937,AB209652,AF091214,AL833572,AY818673,BP279291 NP_000544,AAF06162,AAR05448,EAW63424,EAW63425,EAW63426,AAC41981,BAD92889,AAC63361,AAX21098,Q14191,Q59F09 Hs.632050 DKFZp686C2056|RECQ3|RECQL2|RECQL3 DNA helicase, RecQ-like type 3|Werner syndrome ATP-dependent helicase|exonuclease WRN|recQ protein-like 2 protein-coding 1346094 WRNIP1 Werner helicase interacting protein 1 Werner's syndrome is a rare autosomal recessive disorder characterized by premature aging. The protein encoded by this gene interacts with the N-terminal portion of Werner protein containing the exonuclease domain. This protein shows homology to replication factor C family proteins, and is conserved from E. coli to human. Studies in yeast suggest that this gene may influence the aging process. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq] 727771,1580863 15670210,18842586,17550899,17081983,15592455,15489334,15302935,14702039,14574404,12477932,11301316,9373149,8125298,18613717,18029348,20676042,17888034,19556710,19615732 727771 56897 NM_130395,AL139092,CH471087,AB056152,AB209723,AF218313,AK026179,AK094823,AK223593,AK315047,AK315471,BC018923,NM_020135,CR609901,FB750028 NP_064520,NP_569079,CAH73663,CAH73664,CAH73665,CAH73666,EAW55085,EAW55086,EAW55087,EAW55088,BAB60709,BAD92960,AAF80563,BAB15383,BAG52937,BAD97313,BAG37857,Q96S55,ABM82876,ABM86062,CAT02184,AAH18923 Hs.236828 FLJ22526|RP11-420G6.2|WHIP|bA420G6.2 ATPase WRNIP1|OTTHUMP00000015947|putative helicase RUVBL|werner helicase-interacting protein 1 protein-coding 1353229 WS2A Waardenburg syndrome, type 2A 7951321 7487 1344742 WS2B Waardenburg syndrome, type 2B 7951321 7488 1317261 WSB1 WD repeat and SOCS box-containing 1 This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 18575577,16804916,16498413,16381901,15965468,15489336,15489334,14702039,12477932,12076535,11384984,11230166,10931946,10354473,9373149,8125298,18093972,11256614,18029348,18978678,11076863,17207965,17452445,20487506 26118 NM_015626,NM_134265,AC026254,CH471159,AF069313,AF072880,AF106683,AF106684,AF112205,AF147442,AF240696,AK057082,AK074917,AK222576,AK294516,AK300262,AK307114,AL110243,AL110269,BC005226,BC021110,BC048007,BU189299 NP_056441,NP_599027,EAW51026,EAW51027,EAW51028,EAW51029,EAW51030,EAW51031,AAD20954,AAD28808,AAD43036,AAD43037,AAF17193,AAF82746,BAC11291,BAD96296,BAG57729,BAG62023,CAB53693,CAB53708,AAH05226,AAH21110,Q53HK4,Q8NC76,Q9Y656,Q9Y6I7,CAL38287,CAL38541,ADQ32224 Hs.446017 SWIP1|WSB-1 SOCS box-containing WD protein SWiP-1|WD repeat and SOCS box-containing 1|WD repeat and SOCS box-containing protein 1 protein-coding 1346731 WSB2 WD repeat and SOCS box-containing 2 This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. 1580863 15489334,12477932,12076535,11819827,9110174,8619474,16169070,20059963,20379614,17207965 55884 NM_018639,AC131159,AC131238,CH471054,AF038187,AF163324,AF229181,AK310892,BC015887,CA419381,AK294230,AK295555,AK298513 NP_061109,EAW98117,EAW98118,AAF80478,AAF71302,AAH15887,Q9NYS7,BAG57532,BAG58458,BAG60718,ADQ31750 Hs.728135 MGC10210|SBA2 CS box-containing WD protein|WD repeat and SOCS box containing protein 2|WD repeat and SOCS box-containing 2|WD repeat and SOCS box-containing protein 2|WSB-2 protein-coding 1603698 WSCD1 WSC domain containing 1 12477932,9628581 23302 AK000243,AK289603,AK309645,AL833730,BC009975,BE504506,NM_015253,AC001231,AC104770,CH471108,AB011095 BAA25449,BAF82292,CAH56249,AAH09975,Q658N2,NP_056068,EAW90316,EAW90317,EAW90318,EAW90319 Hs.370166 KIAA0523 WSC domain-containing protein 1 protein-coding 1605710 WSCD2 WSC domain containing 2 18003638,14702039,12477932,9872452 9671 NM_014653,AC009729,CH471054,AB018332,AK098069,AK293764,BC010411,BC037969,BC110330,BC136687,BC136688,BM511109,BX488602,BX647283 NP_055468,EAW97807,EAW97808,EAW97809,BAA34509,BAG57182,AAH37969,AAI10331,AAI36688,AAI36689,Q2TBF2 Hs.143591 KIAA0789|MGC117165 WSC domain-containing protein 2 protein-coding 1346811 WSN Waisman syndrome 7489 69122 WT1 Wilms tumor 1 This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. Multiple transcript variants, resulting from alternative splicing at two coding exons, have been well characterized. There is also evidence for the use of non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq] 1580863,2315543,2315539,2315541,2315542,2315545,2315544,1331525,1580623,1580624 20592250,20619457,20644087,20678218,10101119,10490105,10744705,11278547,12151099,12802290,1332065,14603255,14736876,15518539,15520190,1662794,17605875,17706117,17939399,17956689,18666806,19050011,19169475,19205749,19250757,19322206,19404640,19437143,19494353,19605546,19615003,19618455,19730683,19747485,19749460,19752335,19776535,19811333,19817904,19847202,20013787,20016532,20025481,20038731,20122399,20204298,20332316,20368538,20379614,20413658,20435628,20442368,20442690,20507940,7588596,7720589,8119964,8306891,9178767,9553041,9765217,9815658,20842112,19856421,20092642,20150449,20368469,19578047,20871039,20376582,8012395,9361029,19099861,20880116,20959405,17848411,19017365,19067769,19638168,7862533,8393820,7585606,19549856,19536888,19443388,19416806,19407365,19351817,19321755,19236519,19221039,19212333,19190340,19171881,19141860,19137020,19120973,19097357,18972317,18950857,18929401,18801058,18756326,18752126,18751389,18722603,18708366,18703217,18688870,18644985,18618575,18604725,18591546,18590714,18559874,18528287,18516627,18469795,18466223,18464243,18443273,18425046,18424770,18385267,18371184,18311776,18292948,18273617,18271004,18260155,18255279,18231915,18231640,18212735,18202757,18181329,18094593,18081724,18065803,18064689,18064385,18058136,18042071,18034345,17972942,17947653,17934764,17912546,17886559,17869219,17853480,17803653,17728783,17721194,17716689,17688410,17665418,17630404,17599043,17579045,17551084,17541636,17540436,17531467,17524167,17508006,17496156,17487399,17371932,17216259,17210670,17206472,17205055,17160023,16990584,16987884,16966277,16934801,16927106,16924231,16920711,16909243,16883592,16876863,16857797,16828156,16780544,16554811,16518414,16502587,16467207,16087727,15982325,15957141,15927676,15894924,15878620,15845894,15838390,15780077,15696971,15687485,15674342,15661271,15540161,15538407,15534117,15510596,15506928,15504938,15504250,15489334,15483024,15365188,15339675,15297187,15286719,15266301,15253707,15223639,15150775,15084838,14988155,14988020,14962262,14767530,14702039,14701728,14681303,14666652,12970737,12961083,12960088,12914969,12901797,12841869,12841384,12829997,12824921,12824878,12761165,12681485,12665546,12477932,12471221,12444079,12411326,12239212,12213901,12200377,12199781,12161615,12133898,12127961,12111123,12070003,11986946,11960373,11939727,11933209,11919196,11912180,11889045,11738793,11595161,11237525,11182928,11001926,10838070,17940140,10571943,9784496,9529364,9475094,9366517,9108089,9006935,8956030,8621495,8414514,8401592,8389468,8388765,8290269,8112732,8098976,8086342,7926762,7731725,6088386,2173145,2154702,2154335,1671709,1658787,1655284,1654525,1572653,1338906,1317572,1313285,1302008,16260903,8943350,8798754,9556563,8295405,20591825,20974136,20861915,20595692,20651072,20619105,20736771,20972333 2315543,2315539,2315541,2315542,2315545,2315544,1331525,1580623,1580624 7490 BG718348,NM_001198551,NM_001198552,NM_024425,NM_000378,NM_024426,NM_024424,AL049692,AY245105,CH471064,M80217,M80232,S60755,S61515,S77896,U06486,U77682,X61631,NG_009272,X72314,X74840,X77549,AK093168,AK291736,BC032861,BC046461,M30393,S75264,X51630 CAC39220,NP_001185480,NP_001185481,NP_077743,NP_000369,NP_077744,NP_077742,CAI95758,CAI95759,CAI95760,AAO61088,EAW68220,EAW68221,EAW68222,EAW68223,EAW68224,EAW68225,EAW68226,AAA61299,AAC60605,AAB20110,AAA62865,AAD14879,CAA43819,CAA51057,BAG52667,BAF84425,AAH32861,AAH46461,AAA36810,AAB33443,CAA35956,A0FJ57,A0FJ58,P19544,Q6LBI3,Q6LD16,Q6PI38 Hs.591980 AWT1|GUD|NPHS4|WAGR|WIT-2|WT33 OTTHUMP00000037553|OTTHUMP00000037554|Wilms tumor protein protein-coding 1354232 WT2 Wilms tumor 2 7491 1321461 WTAP Wilms tumor 1 associated protein The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in three transcript variants, two of which encode the same isoform. [provided by RefSeq] 18029348,19605357,19969384,10942595,19084217,18505803,17095724,17088532,16912181,16189514,15489334,15302935,15009096,14675924,12522145,12477932,12444081,11001926,7788527,17207965 9589 AL583911,BC000383,BC004432,BC028180,BC069192,BQ778248,CR595437,CR602556,CR602734,CR605059,CR606450,CR607182,CR610864,CR622276,CR627456,D14661,NM_004906,NM_152858,NM_152857,AL135914,CH471051,AF277190,AF374416,AJ276706,AK127822,AK131393,AK290854 CAC29495,AAH00383,AAH04432,AAH69192,CAH10537,BAA03495,Q15007,Q5TCL9,Q6AHX7,Q9BZS4,BAF83543,NP_004897,NP_690597,NP_690596,CAI21848,CAI21849,EAW47622,EAW47623,EAW47624,EAW47625,EAW47626,EAW47627,EAW47628,AAK07548,AAK54764,CAC10188,BAG54579,ADQ32040 Hs.446091 DKFZp686F20131|KIAA0105|MGC3925 PNAS-132|WT1-associated protein|Wilms' tumour 1-associating protein|female-lethal(2)D homolog|hFL(2)D|pre-mRNA-splicing regulator WTAP|putative pre-mRNA splicing regulator female-lethal(2D)|wilms tumor 1-associating protein protein-coding 1343375 WTIP Wilms tumor 1 interacting protein 14736876,12477932,18331720,19785987,20086015,20133701 126374 NM_001080436,AC008747,AK130059,BC030216 NP_001073905,A6NIX2,AAI60027 Hs.585010 WT1-interacting protein|Wilms tumor protein 1-interacting protein protein-coding 1342868 WTS Wilson-Turner X-linked mental retardation syndrome 1746601,1605216 7492 1601880 WWC1 WW and C2 domain containing 1 17353070,17053149,16684779,15489334,15081397,14702039,12559952,12477932,10048485,8889548,16169070,16484223,17010949,18596123,18672031,19397951,19606085,19804789,20125193,20150879,20185150,20379614,20509760,17994011,17707552,19058786,18789830,18378080,18205171,18194457,18190796,20691427,20881395 23286 NG_016712,BC042553,NM_001161661,NM_001161662,AC020894,AC026689,CH471062,AB020676,AF506799,AF530058,AK001727,AK027022,AK126376,AK296323,AY189820,BC004394,BC017746,BC038463,NM_015238,BX640827,CA313640,DR001014 NP_056053,NP_001155133,NP_001155134,EAW61508,EAW61509,EAW61510,BAA74892,AAO15881,AAQ09942,BAG54317,BAG59017,AAO73817,AAH04394,AAH17746,AAH42553,CAE45903,Q8IUQ3,Q8IX03,AAI56528,AAI72519 Hs.484047 FLJ10865|FLJ23369|HBEBP3|HBEBP36|KIAA0869|KIBRA HBeAg-binding protein 3|WW, C2 and coiled-coil domain containing 1|kidney and brain protein|protein KIBRA|protein WWC1 protein-coding 1605043 WWC2 WW and C2 domain containing 2 15302935,14702039,12477932,9373149,8125298,19913121,20628086 80014 NM_024949,AC019193,AC093844,AC099397,CH471056,AJ566366,AK025682,AK074260,AK091401,AK126057,AK127061,AK225323,AL832424,BC017957,BC053873,BC107683,BM046889,BX647378,BX647704,DN999977 NP_079225,EAX04694,CAD97477,BAB15215,BAB85032,BAC86418,BAC86807,CAH10641,AAH17957,AAH53873,AAI07684,CAH10569,CAH10570,Q6AWC2 Hs.333179 BOMB|FLJ22029|FLJ34082 BH-3-only member B|BH3-only member B protein|OTTHUMP00000218735|OTTHUMP00000218736|WW domain-containing protein 2|WW, C2 and coiled-coil domain containing 2|protein WWC2 protein-coding 1601752 WWC3 WWC family member 3 16344560,14702039,12477932,10574462,15489334 55841 AC002359,AC002365,AC121345,CH471074,AA401229,AB033106,AI130747,AI306162,AK024683,AK091936,AK292961,AK301129,AL353937,BC003527,NM_015691,BC032447,BC035601,BC098455,BU500300,BU500742,DA728210,DB636564,NG_021467 NP_056506,EAW98775,EAW98776,BAA86594,BAG52444,BAF85650,BAG62722,CAH56367,AAH32447,Q9NZ80,Q9ULE0,AAI56329,AAI57115,AAH03527 Hs.527524 BM042|KIAA1280 protein WWC3 protein-coding 1320534 WWOX WW domain containing oxidoreductase WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a short-chain dehydrogenase/reductase domain (SRD). The highest normal expression of this gene is detected in hormonally regulated tissues such as testis, ovary, and prostate. This expression pattern and the presence of an SRD domain suggest a role for this gene in steroid metabolism. The encoded protein is more than 90% identical to the mouse protein, which is an essential mediator of tumor necrosis factor-alpha-induced apoptosis, suggesting a similar, important role in apoptosis for the human protein. In addition, there is evidence that this gene behaves as a suppressor of tumor growth. Alternative splicing of this gene generates transcript variants that encode different isoforms. [provided by RefSeq] 1599874 14965474,19434452,19484134,19584346,19708029,19844255,19896763,20074932,20146584,20379614,12514174,12477932,11956080,11719429,11572989,11058590,15761153,20367991,20480411,19950548,20737170,20923822,20510001,20530675,17909041,17704139,17609426,17289881,17200365,17178850,17163164,16941225,16818616,16438931,16360296,16288044,16223882,16219768,16152610,16115915,16061658,15998374,15982416,15798093,15674328,15580310,15548692,15489334,15345747,15266310,15131042,15126504,15073846,15073125,15070730,15044096,15026124,14695174,14526170,10786676,10861292,15064722,19465938,19458077,19352382,19188760,19130459,19035517,19027726,18674750,18629536,18620777,18487609,18460020,18452537,18371080,18365142,18273838,18061530,18047428,17947476,21107309,20800603,20942981 1599874 51741 NM_016373,NM_130791,NM_130844,NG_011698,AC009044,AC009141,AC009145,AC027279,AC046158,AC079414,AC092376,AC106743,AC109134,AC136603,AF212843,AF217490,AF325423,AF325429,AF325432,CH471114,AF187015,AF211943,AF227526,AF227527,AF227528,AF227529,AF395123,AF395124,AK027626,AK290438,AK291300,AK298322,AY256821,BC003184,BT007445,U13395 NP_057457,NP_570607,NP_570859,AAF27050,AAF78197,AAL05451,AAL05450,AAL05449,EAW95579,EAW95580,AAF31694,AAF27049,AAF82053,AAF82054,AAF82055,AAF82056,AAK81727,AAK81728,BAG51361,BAF83127,BAF83989,BAG60575,AAP94227,AAH03184,AAP36113,AAA21465,Q12953,Q9NZC7,Q9P1M5 Hs.461453 D16S432E|FOR|FRA16D|HHCMA56|PRO0128|SDR41C1|WOX1 WW domain-containing oxidoreductase|WW domain-containing protein WWOX|fragile site FRA16D oxidoreductase|short chain dehydrogenase/reductase family 41C, member 1 protein-coding 1323344 WWP1 WW domain containing E3 ubiquitin protein ligase 1 WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq] 2302550,1580863 14556380,20951678,9647693,9169421,12450395,12535537,19307600,19267401,19047365,19035836,18806757,18724389,17609263,17330240,17081983,17016436,16924229,16785210,16713569,16223724,16189514,15489334,15359284,15231748,15221015,12477932,11779188,11375995,11230166,9753456,8889548,19447967,19561640,19580544,20211142,21048031 2302550 11059 NM_007013,AC083845,AC103760,AC103817,CH471060,AK292800,AK310683,AL050082,AL136739,AW137654,AY043361,AY345857,BC015380,BC036065,BM664090,U96113 ACE87531,ACE86844,NP_008944,EAW91634,EAW91635,EAW91636,EAW91637,BAF85489,CAB66673,AAK94668,AAQ22764,AAH15380,AAH36065,AAC51324,Q5YLC1,Q9H0M0 Hs.655189 AIP5|DKFZp434D2111|Tiul1|hSDRP1 NEDD4-like E3 ubiquitin-protein ligase WWP1|Nedd-4-like ubiquitin-protein ligase|TGIF-interacting ubiquitin ligase 1|WW domain-containing protein 1|atrophin-1 interacting protein 5|atrophin-1-interacting protein 5 protein-coding 1320797 WWP2 WW domain containing E3 ubiquitin protein ligase 2 This gene encodes a member of the NEDD4-like protein family. The family of proteins is known to possess ubiquitin-protein ligase activity. The encoded protein contains 4 tandem WW domains. The WW domain is a protein motif consisting of 35 to 40 amino acids and is characterized by 4 conserved aromatic residues. The WW domain may mediate specific protein-protein interactions. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 9647693,9169421,12450395,18570872,16964243,16713569,16189514,15548568,15489334,15252135,15231748,12477932,12167593,11748237,9595660,11244092,11046148,15047715,17719543,18776082,19158374,19274063,19651900,20379614 11060 NM_199423,NM_199424,AC026468,AC092115,CH471092,AI494370,AI635734,AJ001982,AK126332,AK295070,AK295701,AK300266,AK312792,AK316097,AL527115,NM_007014,AL583085,BC000108,BC013645,BC064531,BU167468,BX372347,CR599492,U96114 NP_008945,NP_955455,NP_955456,EAW83287,EAW83288,EAW83289,BAC86528,BAG58117,BAG58549,BAG62027,BAG35653,BAH14468,AAH00108,AAH13645,AAH64531,AAC51325,O00308,Q6ZTQ5,ABM82100,ABM85282 Hs.408458 AIP2|WWp2-like NEDD4-like E3 ubiquitin-protein ligase WWP2|Nedd-4-like ubiquitin-protein ligase|OTTHUMP00000174895|WW domain-containing protein 2|atrophin-1 interacting protein 2|atrophin-1-interacting protein 2 protein-coding 1351210 WWS Wieacker-Wolff syndrome 7493 1349820 WWTR1 WW domain containing transcription regulator 1 1580863 11118213,18029348,18568018,18413727,18374411,17927494,16189514,16099986,15489334,15096513,14970209,14702039,12477932,20936779,20164440,20850437,19324876,19324877,19538860,19542741,16300735,16344560,18227151,19010321,19948975,20049872 25937 NM_015472,AC012014,CH471052,AJ299431,AK022036,AL050107,AL833852,BC014052,CR608322,AK025216,AC108672,AK127620,AK130514,DA338432,DA760311,DA854089,NM_001168278,NM_001168280 NP_056287,EAW78868,EAW78869,CAC17722,BAB13957,CAB43275,CAD38711,AAH14052,Q9GZV5,ABM84304,ABM87698,NP_001161750,NP_001161752 Hs.477921 DKFZp586I1419|FLJ27004|FLJ45718|TAZ OTTHUMP00000215994|OTTHUMP00000216001|WW domain-containing transcription regulator protein 1|transcriptional co-activator with PDZ-binding motif|transcriptional coactivator with PDZ-binding motif protein-coding 1342496 XAB2 XPA binding protein 2 1580863 10944529,11313499,17981804,16189514,15498874,15489334,15231748,14702039,12477932,12421765,11991638,10574461,20522537 56949 AC008763,AF547265,CH471139,AB026111,AB033003,AF226051,AF258567,AF272147,AK025858,AK074035,BC007208,BC008778,CR591175,CR603946,NM_020196,CR615253,CR615981,CR749864 NP_064581,AAN17847,EAW69022,EAW69023,EAW69024,BAB15807,BAA86491,AAF86951,AAG23770,AAQ14304,BAB84861,AAH07208,AAH08778,CAH18708,Q68CN2,Q71SV8,Q9HCS7,ABM84113,ABM87507 Hs.9822 DKFZp762C1015|HCNP|HCRN|NTC90|SYF1 SYF1 homolog, RNA splicing factor|XPA-binding protein 2|crn-related protein kim1|pre-mRNA-splicing factor SYF1 protein-coding 1606793 XAF1 XIAP associated factor 1 X-linked inhibitor of apoptosis (XIAP; MIM 300079) is a potent member of the IAP family. All members of this family possess baculoviral IAP (BIR) repeats, cysteine-rich domains of approximately 80 amino acids that bind and inhibit caspases (e.g., CASP3; MIM 600636). XIAP has 3 BIR domains and a C-terminal RING zinc finger that possesses E3 ubiquitin ligase (see MIM 601623) activity. XAF1 antagonizes the anticaspase activity of XIAP and may be important in mediating apoptosis resistance in cancer cells (Liston et al., 2001 [PubMed 11175744]).[supplied by OMIM] 19358264,19056926,18979398,18830757,18362468,18192275,18035482,17613533,17570219,17471152,17449173,17376236,17087954,16909101,16801630,16459719,16353137,16343440,16303760,15610524,14702039,17331366,17884799,18250043,18555708,19397802,19628579,19664236,19847196,19922503,20198350,14612497,12477932,12107411,12029096,11175744,11087668 54739 NM_017523,NM_199139,AC034305,CH471108,AK056908,AK091799,AK290276,AK292710,AK292848,BC032776,BC058017,BC073156,BM153640,BM459605,BM475564,BQ639060,BX648588,BX649188,EF028165,EF028166,X99699 NP_059993,NP_954590,EAW90287,EAW90288,EAW90289,EAW90290,EAW90291,BAG51823,BAF82965,BAF85399,BAF85537,AAH32776,AAH73156,CAE46206,ABM74556,ABM74557,CAA68030,Q6GPH4 Hs.441975 BIRC4BP|HSXIAPAF1|XIAPAF1 BIRC4 binding protein|BIRC4-binding protein|XIAP-associated factor 1 protein-coding 1606029 XAGE1A X antigen family, member 1A XAGE1A is 1 of 5 copies of the XAGE1 gene (see XAGE1D; MIM 300289) (Chen et al., 2006 [PubMed 16382448]).[supplied by OMIM] 10197611,10987281,11774264,11992404,12479262,14696120,14747957,15800911,15905609,16061866,16468707,16715135,17332921,17335148,17704638,18045611,18752338,19498007,20178013 653219 NM_001097592,NM_001097593,AJ400997,AX455517,BX088602,CS134500,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099,NR_033253 NP_001091061,NP_001091062,CAC38108,CAD38240,CAJ21130,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64,CAI40893,CAI40894,CAI40895 Hs.112208,Hs.546096 CT12.1|CT12.1A|CT12.1a|CTP9|GAGED2|XAGE-1|XAGE1|XAGE1B|XAGE1C|XAGE1D|XAGE1E CT12.1|G antigen family D member 2|G antigen, family D, 2|OTTHUMP00000023312|OTTHUMP00000042363|cancer/testis antigen 12.1|cancer/testis antigen family 12, member 1a|cancer/testis associated protein|protein XAGE-1 protein-coding 1625833 XAGE1B X antigen family, member 1B XAGE1B is 1 of 5 copies of the XAGE1 gene (see XAGE1D; MIM 300289) (Chen et al., 2006 [PubMed 16382448]).[supplied by OMIM] 18752338,17704638,17332921,10197611,10987281,11774264,11992404,12479262,14696120,15800911,15905609,16061866,16468707,16715135,17335148,18045611,19498007 653220 NM_001097594,NM_001097596,BX088602,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099,NR_033254 NP_001091063,NP_001091065,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64,CAI40888,CAI40889,CAI40890 Hs.112208,Hs.546096 CT12.1|CT12.1B|CT12.1b|CTP9|GAGED2|XAGE1A|XAGE1C|XAGE1D|XAGE1E|XAGE1E. CT12.1|G antigen family D member 2|OTTHUMP00000039567|cancer/testis antigen 12.1|cancer/testis antigen family 12, member 1b|cancer/testis associated protein|protein XAGE-1 protein-coding 1625844 XAGE1C X antigen family, member 1C XAGE1C is 1 of 5 copies of the XAGE1 gene (see XAGE1D; MIM 300289) (Chen et al., 2006 [PubMed 16382448]).[supplied by OMIM] 10197611,10987281,11774264,11992404,12479262,14696120,14747957,15800911,15905609,16061866,16468707,16715135,17332921,17335148,17704638,18045611,18752338,19498007 653048 NM_001097597,NM_001097598,AL772246,AX455515,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099,NR_033251 NP_001091066,NP_001091067,CAI41526,CAI41527,CAI41528,CAD38238,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64 Hs.112208,Hs.546096 CT12.1C|CTP9|GAGED2|XAGE1A|XAGE1B|XAGE1D|XAGE1E CT12.1|G antigen family D member 2|OTTHUMP00000023314|OTTHUMP00000042365|cancer/testis antigen 12.1|cancer/testis antigen family 12, member 1c|cancer/testis associated protein|protein XAGE-1 protein-coding 1642398 XAGE1D X antigen family, member 1D This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to the use of an alternative transcription start site and an alternative translation initiation codon, results in multiple variants that encode different isoforms. [provided by RefSeq] 14696120,14747957,15905609,16468707,16715135,17332921,17666327,17704638,18045611,18752338,19498007,17335148,16061866,15800911,15772651,15489334,12479262,12477932,11992404,11774264,10987281,10197611,20704819 9503 NR_033256,NM_020411,NM_133430,AL772246,CS134502,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099 NP_065144,NP_597673,CAI41530,CAI41531,CAJ21131,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64,AAI60078 Hs.546096,Hs.112208,Hs.584511 CT12.1D|CT12.1d|CTP9|XAGE1A|XAGE1B|XAGE1C|XAGE1E CT12.1|G antigen family D member 2|OTTHUMP00000023315|OTTHUMP00000218307|cancer/testis antigen 12.1|cancer/testis antigen family 12, member 1d|cancer/testis associated protein|protein XAGE-1 protein-coding 1625843 XAGE1E X antigen family, member 1E XAGE1E is 1 of 5 copies of the XAGE1 gene (see XAGE1D; MIM 300289) (Chen et al., 2006 [PubMed 16382448]).[supplied by OMIM] 10197611,10987281,11774264,11992404,14696120,15800911,15905609,16061866,16468707,16715135,17332921,17335148,17704638,18045611,18752338,19498007,12479262 653067 NM_001097604,NM_001097605,AL772246,BC009538,BT007099,AF251237,AJ290447,AJ318878,AJ318879,NR_033257 NP_001091073,NP_001091074,AAH09538,AAP35763,Q9HD64,CAI41534,CAI41532,CAI41533,AAG01401,CAC38107,CAC82986,CAC82987 Hs.112208,Hs.546096 CT12.1E|CTP9|GAGED2|XAGE1A|XAGE1B|XAGE1C|XAGE1D CT12.1|G antigen family D member 2|OTTHUMP00000023316|cancer/testis antigen 12.1|cancer/testis antigen family 12, member 1e|cancer/testis associated protein|protein XAGE-1 protein-coding 1350959 XAGE2 X antigen family, member 2 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq] 16189514,15772651,15489334,12477932,11992404,10197611 9502 NM_130777,AJ318891,BX293536,AJ318880,BC009232,BC066311 NP_570133,CAC88125,CAI40835,CAC83007,AAH09232,AAH66311,Q96GT9,ABM84073,ABM87441 Hs.522654 CT12.2|GAGED3|XAGE-2|XAGE2B G antigen family D member 3|G antigen, family D, 3|cancer/testis antigen 12.2|cancer/testis antigen family 12, member 2|protein XAGE-2 protein-coding 2306250 XAGE2B X antigen family, member 2B 11181995,10197611,11992404,15489334,15772651,16189514 728242 NM_001079538,AL953874,AX359705,CH471230,AJ318880,BC009232,BC066311,AC231532 NP_001073006,CAD23342,EAW62883,EAW62884,CAC83007,AAH09232,AAH66311,Q96GT9 Hs.522654 XAGE2 CT12.2|G antigen family D member 3|X antigen family, member 2-like|cancer/testis antigen 12.2|protein XAGE-2 protein-coding 1348257 XAGE3 X antigen family, member 3 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq] 17207965,15772651,15498874,15489334,12477932,11992404,10197611 170626 NM_133179,NM_130776,AJ318893,AL445236,CH471283,AF318372,AJ318881,BC062680 ADQ32023,NP_573440,NP_570132,CAC83014,CAI41615,EAW57548,EAW57549,AAL55879,CAC83008,AAH62680,Q8WTP9 Hs.43879 CT12.3a|CT12.3b|GAGED4|MGC71925|PLAC6|XAGE-3|pp9012 CT12.3|G antigen family D member 4|G antigen, family D, 4|cancer/testis antigen 12.3|cancer/testis antigen family 12, member 3a|cancer/testis antigen family 12, member 3b|placenta-specific 6|placenta-specific gene 6 protein|protein XAGE-3 protein-coding 1353781 XAGE5 X antigen family, member 5 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq] 737633 15772651,15489334,12477932,11992404 737633 170627 NM_130775,AJ318894,AL445236,CH471283,BC069129,BC103962,BC103963,BC103964 NP_570131,CAC83015,CAI41618,EAW57550,EAW57551,AAH69129,AAI03963,Q3SY49,Q8WWM1 Hs.356874 CT12.5|GAGED5|MGC119799|MGC119800|XAGE-5 G antigen family D member 5|G antigen, family D, 5|OTTHUMP00000023321|cancer/testis antigen 12.5|cancer/testis antigen family 12, member 5|protein XAGE-5 protein-coding 1352787 XBP1 X-box binding protein 1 This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq] 1580863,2326004 20421453,11256614,18191223,18583979,19170196,19237300,19530237,19543371,19564049,19622636,19625176,19669932,19692168,19722195,19735688,19751410,19941857,17928342,17906960,17898050,17884689,17660348,17442311,17418411,17092596,17034899,17026957,16958950,16461360,16381901,16342282,16154272,16002735,15936534,15927087,15892135,15882996,15598891,15489336,15489334,15461802,15380296,15351732,15331160,15298659,15184063,15149721,15063770,14702039,14634507,14576841,12954762,12949534,12805554,1718857,2321018,19470730,19435892,19420237,19416856,19412428,19403667,19389935,19380033,19321437,19265690,19176362,19154631,19122331,18840627,18840095,18775308,18676680,18635891,18552212,18417469,18386815,18192112,18082745,17932454,12713871,12586069,12477932,12067985,11813207,11779464,11076863,10652269,10591208,9563853,8657566,8349596,2196176,1903538,16009131,20688044,19958799,20368688,20211142,21085187,20013084,20170659 2326004 7494 CR619162,CR619584,CR621632,CR622994,CR623851,CR624460,CR624514,CR624707,CR625623,M31627,NM_001079539,NG_012266,CH471095,L13850,X55543,Z93930,AB076383,AB076384,AK093842,AK292188,AK313761,BC000938,BC012841,BC015709,BI545390,CR456611,CR590520,CR592784,CR596883,CR599357,CR601294,CR602065,CR602567,CR604618,CR605083,CR605464,CR605548,CR606064,CR608173,CR608333,CR608589,CR609562,CR609625,CR615221,CR615523,NM_005080 AAA36031,P17861,CAL38516,CAK54638,CAK54937,ABM81915,ABM85091,NP_005071,NP_001073007,EAW59763,EAW59764,EAW59765,CAA39149,CAB45016,BAB82981,BAB82982,BAF84877,AAH00938,AAH12841,AAH15709,CAG30497 Hs.437638 TREB5|XBP2 X-box-binding protein 1|XBP-1|tax-responsive element-binding protein 5 2315442 GLUCO141_H protein-coding 1352765 XBPP1 X-box binding protein pseudogene 1 1718857 7495 NG_003037,AC008536 XBP|XBP1|XBPP1 pseudo 1349076 XBX1 xylan 1,4-beta-xylosidase 1 1580863 9653645 7496 U88969 AAC34952,O76044 protein-coding 1353439 XCE X chromosome controlling element 5480753,8118102 7497 1350360 XCL1 chemokine (C motif) ligand 1 1580863 7602097,19074885,19064610,18838386,18832695,18364395,18322986,17077010,16923584,16710414,15489334,14734774,14707146,14568926,12847680,12477932,12393716,12053063,11889129,11683588,11601972,11446740,11303872,11154210,11083865,10887101,10433555,9632725,9199871,9079718,9029087,8977329,8849694,7973732,7875320,7615002,11878903,15857508,20541533,17903295,19536175,19797511,20237496,16754659 6375 NM_002995,AL031736,CH471067,D63790,BC069817,BC070309,D43768,U23772,X86474,BF433809 NP_002986,CAB46691,EAW90827,EAW90828,BAA09859,AAH69817,AAH70309,BAA07825,AAC50164,CAA60198,P47992 Hs.546295 ATAC|LPTN|LTN|SCM-1|SCM-1a|SCM1|SCM1A|SCYC1 SCM-1-alpha|XC chemokine ligand 1|c motif chemokine 1|cytokine SCM-1|lymphotactin|lymphotaxin|single cysteine motif 1a|small inducible cytokine subfamily C, member 1 (lymphotactin)|small-inducible cytokine C1 protein-coding 1354104 XCL2 chemokine (C motif) ligand 2 1580863 7875320,18618175,17763208,16710414,15489334,15340161,12477932,9632725,8849694,16754659 6846 NM_003175,AL031736,D63789,BC069360,BC070308,BE218461,CD521967 NP_003166,BAA09858,AAH69360,AAH70308,Q9UBD3,CAB46689 Hs.458346 SCM-1b|SCM1B|SCYC2 XC chemokine ligand 2|c motif chemokine 2|cytokine SCM-1 beta|small inducible cytokine subfamily C, member 2 protein-coding 1322962 XCR1 chemokine (C motif) receptor 1 The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 10679309,9632725,18426556,17403668,17135764,15777643,15489334,12477932,11446740,10702689,10400311,7832990,7683036,20541533,20237496,20479115,20479118,16754659 2829 NM_001024644,NM_005283,AC099782,AC133140,AY275469,CH471055,L36149,AB189434,AB189435,AK314277,BC069075,BC069589,BC095533 NP_001019815,NP_005274,AAP32301,EAW64755,AAA62837,BAD38891,BAD38892,BAG36937,AAH69075,AAH69589,AAH95533,P46094,Q502V0,Q689E2 Hs.248116 CCXCR1|GPR5 G protein-coupled receptor 5|G-protein coupled receptor 5|OTTHUMP00000209999|XC chemokine receptor 1|chemokine (C motif) XC receptor 1|chemokine XC receptor 1|lymphotactin receptor protein-coding 1348452 XDH xanthine dehydrogenase Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The enzyme is a homodimer. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq] 1624377,1580863 19196876,19423540,19500084,19505917,19531472,19539448,19567609,19628957,19693777,19898482,20346360,20406964,20438785,8224915,8670112,18840375,18823306,18821156,18818408,18775690,18772145,18767115,18712049,18678861,18649358,18635756,18569334,18386220,18300946,17906999,17622935,17523077,17301077,17081983,16935971,16758302,15451061,14761964,12774669,12637268,12456835,12168784,12080414,11993848,11960915,11034305,10968141,9388748,9153281,9023782,8829220,8661045,8373410,8135849,7956361,7956358,7829092,7575623 1624377 7498 NM_000379,NG_008871,AC010743,AF203979,AL121654,AL121657,CH471053,DQ089481,AK130114,CR614711,CV574002,D11456,U06117,U39487,HB736567,FB789768,FB794693,FB798940,FB811711,FB848246,FB866508,FB885374,FB890761,FB896521,GN364796,HB659827,HB664752,HB668999,HB681770,HB718305,HB755433,HB760820,HB766580 NP_000370,AAX76512,AAF15890,EAX00479,AAY68219,BAA02013,AAA75287,AAB08399,P47989,Q585T6,Q9UH91,AAI66696,CBC62270,CAW36700,CAW39049,CAW41215,CAW47231,CAW63651,CAW71881,CAW80373,CAW82865,CAW86283,CAY77138,CBC02653,CBC04906,CBC06866,CBC13019,CBC45853,CBC79202,CBC84152,CBC89109 Hs.250 XO|XOR xanthene dehydrogenase|xanthine dehydrogenase/oxidase|xanthine oxidase|xanthine oxidoreductase protein-coding 1349793 XG Xg blood group This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 8054981,18789743,12477932,10941840,10688843,7533029,6482910,3007328 7499 NM_001141920,NM_001141919,NM_175569,NG_011627,AC006209,AC138085,CH471074,AF380356,AK304164,BC100764,BC100765,BC100766,BC100767,BX098030,BX379565 NP_001135392,NP_001135391,NP_780778,EAW98701,EAW98702,EAW98703,AAL04055,BAG65051,AAI00765,AAI00766,AAI00767,AAI00768,P55808,Q496P1 Hs.179675 MGC118758|MGC118759|MGC118760|MGC118761|PBDX XG glycoprotein|Xg blood group (pseudoautosomal boundary-divided on the X chromosome)|glycoprotein Xg|xg blood group (pseudoautosomal boundary-divided on the x chromosome) protein-coding 1602009 XGPY Xg pseudogene, Y-linked 12815422,7633446 7500 NG_005784,AC004617 XGPY1 pseudo 2292082 XGPY2 Xg pseudogene, Y-linked 2 8054981,7633446 100132596 AC006209,NR_003254,Z48518,Z48519 Hs.179675 XG|XGPY pseudo 1353420 XGR expression of XG and MIC2 on erythrocytes 7501 1353417 XIAP X-linked inhibitor of apoptosis The protein encoded by this gene is a member of a family of proteins which inhibit apoptosis through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2. This protein inhibits apoptosis induced by menadione, a potent inducer of free radicals, and ICE. It also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. [provided by RefSeq] 2314390,2315847,2315848,2315849,2315850,2315851,2315852,2315854,2315853,1580863 20484174,19949310,15570290,15531913,15489334,15359644,15337764,15297970,15292176,15282301,15207275,15201285,15173080,15044484,15037009,15029247,14759516,14685242,14645242,14570909,14532997,14523016,14512414,12970762,12865429,12855663,12851723,12835328,12747801,12725530,12691733,12624662,12620238,12592339,12482981,12477932,12388702,12243753,12218061,12121983,12121969,12048196,11972398,11927604,11807766,11604410,11598496,11597143,11546791,11447297,11379817,11359776,11140637,10929712,9878061,9545235,9205126,8938457,8552191,18570872,15280366,12660240,12511567,11175744,19176394,11257232,9384571,11832478,16189514,11390657,11356828,15300255,15353805,15650747,15200957,20632385,20862799,20406824,16263936,16775419,18022362,20676365,20431038,14685266,20582956,11602612,18831009,9230442,11801603,16282325,16887178,19549727,8654366,11257231,19411066,19398375,19369629,19355825,19289587,19273858,19223549,19011619,19001278,18851976,18829553,18820704,18807090,18795889,18767116,18761086,18704457,18703998,18666224,18647593,18645029,18590777,18566024,18560353,18521960,18520160,18467439,18438971,18432259,18415656,18251743,18187663,18071906,18068526,18068114,18041764,18022123,17993464,17967870,17951200,17947468,17936246,17724022,17721914,17698078,17630106,17626072,17613533,17611394,17603079,17579071,17534699,17471152,17450518,17440816,17437405,17350081,17339366,17332680,17291493,17287399,17179183,17144666,17094439,17080092,17069460,17050666,17035597,17016456,17008917,16983704,16972754,16964381,16932741,16869888,16868249,16799641,16603637,16543147,16394139,16344307,16343440,16278380,16211302,16142363,15772651,15749826,15677500,15580265,20406946,20670888,11242052,11606597,11803371,15218035,16732928,17318174,17331366,18024305,18049476,19171073,19288545,19393243,19397802,19473982,19506533,19531477,19562673,19615732,19649722,19654940,19667203,19698783,19723899,19726736,19738422,19758744,19782107,19787196,19854829,19859091,19875445,19877056,19885569,19897582,19946707,20154138,20171186,20213810,20517649,9525868,18755525,19763917,20067634,19913121,20515940,20628086,20381828,15178455,20395960,15541727,20712893,20819778,20959405 2314390,2315847,2315848,2315849,2315850,2315851,2315852,2315854,2315853 331 CH471107,AK309704,AK313883,BC030771,BC032729,BQ423165,U32974,NM_001167,NG_007264,AL022156,AL121601,AL591583,AY886519,FB777841,FB777857 AAW62257,EAX11858,EAX11859,EAX11860,EAX11861,BAG36609,AAH32729,AAC50518,P98170,ABM81783,ABM84938,NP_001158,CAB95312,CAI42584,CAW32364,CAW32374 Hs.356076 API3|BIRC4|ILP1|MIHA|XLP2 E3 ubiquitin-protein ligase XIAP|IAP-3|IAP-like protein|X-linked IAP|X-linked inhibitor of apoptosis protein|apoptosis inhibitor 3|baculoviral IAP repeat-containing 4|baculoviral IAP repeat-containing protein 4|baculoviral iap repeat-containing 4|hIAP-3|hIAP3|inhibitor of apoptosis protein 3 protein-coding 1350745 XIC X chromosome inactivation center 6198418,1985270 7502 1312413 XIRP1 xin actin-binding repeat containing 1 19151983,16631741,15454575,14702039,12477932,12203715,10021346,18029348 165904 NM_001198621,NM_194293,AC092053,CH471055,AJ271461,AJ626899,AJ626900,AK095941,AK096421,AK122723,AK126299,AL713648,AL831956,AL832020,AL832459,AY375160,BC127119,BC139782,BX648565,CR749430 NP_001185550,NP_919269,EAW64572,EAW64573,EAW64574,CAC81057,CAF25191,CAF25192,BAC04655,BAC04783,BAG53689,BAC86519,CAD28459,AAQ64003,AAI27120,AAI39783,CAH18268,Q702N8,AAI72374 Hs.447868 CMYA1|DKFZp451D042|DKFZp779C1255|DKFZp779C1947|Xin OTTHUMP00000208992|cardiomyopathy associated 1|cardiomyopathy-associated protein 1|xin actin-binding repeat-containing protein 1 protein-coding 1347436 XIRP2 xin actin-binding repeat containing 2 17046827,16344560,16205742,15454575,14702039,14687087,12477932,12203715,20562859,20379614,20520587 129446 AL832336,AL832360,AL832375,AL832382,AL832452,AL833291,AY820969,BC016370,BC018673,BC022446,BC022887,BC022888,BC070143,BC107799,BX647448,BX647645,BX647844,BX647845,BX647848,DB079087,AK096430,AK096907,AK097519,AK122889,AK123963,AK125495,AL831970,AL831985,AL832011,AL832331,EF119717,EF119718,EF119719,EF119720,EF119721,EF119722,AK092683,EF119711,NM_152381,NM_001079810,AC092601,AC093684,AC108494,AC133782,CH471058,AJ626901,AK056582,AA665183,NM_001199143,NM_001199144,NM_001199145 CAD91137,CAD91154,CAD91156,CAD89958,CAD91141,AAV87913,AAH18673,BAG53782,CAD89919,CAD91139,CAD91146,CAD38624,ABO69251,ABO69245,ABO69246,ABO69247,ABO69248,ABO69249,ABO69250,A4UGR9,CAF25193,NP_689594,NP_001073278,AAY24138,EAX11311,NP_001186072,NP_001186073,NP_001186074 Hs.73680 CMYA3|DKFZp451G055|DKFZp779G1747|FLJ39111|FLJ40200|MYOMAXIN OTTHUMP00000204894|OTTHUMP00000204895|OTTHUMP00000204896|OTTHUMP00000204897|OTTHUMP00000206012|OTTHUMP00000206013|beta-xin|cardiomyopathy associated 3|cardiomyopathy-associated protein 3|xeplin|xin actin-binding repeat-containing protein 2|xin repeat protein 2 protein-coding 1353468 XIST X (inactive)-specific transcript (non-protein coding) X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIST gene is expressed exclusively from the XIC of the inactive X chromosome. The transcript is spliced but apparently does not encode a protein. The transcript remains in the nucleus where it coats the inactive X chromosome. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq] 18854511,17545591,17537922,17333237,16769694,15731119,14702039,12629412,12072569,10723727,9354806,9185579,9069284,8636206,2034279,1985270,1985261,2612213,9239711,9245976,9245982,1423611,15065664,12419249,19440381,19704020,19812237,20052282,20211024 7503 NR_001564,AL353804,M97168,AK025198,AK054860,AK295558,BX648323,CR596835,CR606758,CR749383,X56196,X56199,NG_016172 Hs.529901,Hs.727490 DKFZp779P0129|DXS1089|DXS399E|NCRNA00001|SXI1|XCE|XIC|swd66 miscrna 1351512 XK X-linked Kx blood group (McLeod syndrome) This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq] 1354522,1580863 9074432,7737196,8004674,9647734,17469188,17379193,17302777,17081983,15489334,12823753,12477932,11961232,11761473,11703337,11261514,10849386,10556484,10426139,9784384,9593744,8619554,3358422,1191546,871435 1354522 7504 NM_021083,NG_007473,AB214532,AC233292,AC233297,AL121577,CH471141,DQ062746,AY534238,BC036019,Z32684,FB659844 NP_066569,BAE48708,EAW59454,AAY43132,AAT07087,AAH36019,CAA83632,P51811,Q2Z218,CAS01776 Hs.78919 KX|X1k|XKR1 Kell blood group precursor (McLeod phenotype)|Kx antigen|XK, Kell blood group complex subunit (McLeod syndrome)|XK-related protein 1|kell blood group precursor (mcleod phenotype)|kell complex 37 kDa component|membrane transport protein XK protein-coding 1602431 XKR3 XK, Kell blood group complex subunit-related family, member 3 XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM] 16431037,16344560,14702039,12477932,20560530 150165 NM_175878,AC005301,AC007064,CH471193,AK098608,AY534240,AY989815,BC045548,BC137521,BC137522,BC144679,DB046546,HC007170 NP_787074,EAW57723,BAC05352,AAT07089,AAX86010,AAI37522,AAI37523,AAI44680,Q5GH77,CBH19390 Hs.356069 MGC57211|XRG3|XTES X Kell blood group precursor-related family, member 3|XK-related protein 3|expressed in testis|x Kell blood group-related 3 protein-coding 1606184 XKR4 XK, Kell blood group complex subunit-related family, member 4 19573479,20379614,18521090,11572484,20607790 114786 NM_052898,AC022679,AC090200,AC103716,AC103953,AF165144,AB067476,AY534241 NP_443130,BAB67782,AAT07090,Q5GH76,AAI56156 Hs.130197 KIAA1889|XRG4 X Kell blood group precursor-related family, member 4|XK-related protein 4 protein-coding 1604445 XKR5 XK, Kell blood group complex subunit-related family, member 5 12975309 389610 AY534243,CR604676,NM_207411,AF233439,CH471153,AY358489,AY534242 AAT07091,AAT07092,Q6UX68,NP_997294,EAW80479,EAW80480,AAQ88853 Hs.558840 HARL2754|UNQ2754|XRG5A|XRG5BM|XRG5a|XRG5b HARL2754|X Kell blood group precursor-related family, member 5|XK-related protein 5|XK-related protein 5a protein-coding 1321790 XKR6 XK, Kell blood group complex subunit-related family, member 6 737633 19060906,15489334,12477932,11896452,11181995,14702039,20160193,20962850,20972250,21060863 737633 286046 NM_173683,AC011008,AC105107,AC105108,AF131215,CH471157,AJ301560,AY534244,BC024146,AB073660,AJ305312,AK056119 NP_775954,EAW65599,EAW65605,CAC82736,AAT07093,AAH24146,Q5GH73,Q96KT3,CAC83680,EAW65601 Hs.666146,Hs.657083,Hs.665456 C8orf21|C8orf5|C8orf7|FLJ31557|XRG6 Transmembrane protein C8orf5|X Kell blood group precursor-related family, member 6|XK-related protein 6|chromosome 8 open reading frame 21 protein-coding 1605535 XKR7 XK, Kell blood group complex subunit-related family, member 7 11780052 343702 NM_001011718,AL031658,CH471077,AY534245 NP_001011718,CAB88102,EAW76398,AAT07094,Q5GH72 Hs.666444 C20orf159|dJ310O13.4 X Kell blood group precursor-related family, member 7|XK-related protein 7 protein-coding 1602706 XKR8 XK, Kell blood group complex subunit-related family, member 8 16710414,15489334,14702039,12477932 55113 NM_018053,AL512288,CH471059,CQ834414,CQ834522,AK001169,AK026024,AK054909,AK091615,AY534246,BC003606,BC013379,BC028564 NP_060523,CAI14292,EAX07717,EAX07718,EAX07719,EAX07720,CAH05422,CAH05476,BAA91531,BAB15326,AAT07095,AAH03606,AAH28564,Q9H6D3,Q9NW55,AAH13379 Hs.55024 FLJ10307|RP11-460I13.3|XRG8 X Kell blood group precursor-related family, member 8|XK-related protein 8 protein-coding 1604439 XKR9 XK, Kell blood group complex subunit-related family, member 9 12477932 389668 NM_001011720,AC020987,AC022731,CH471068,AY534247,BC111381,BC137104,BC137105,BC151845 NP_001011720,EAW86971,AAT07096,AAI37105,AAI37106,Q5GH70 Hs.458938 XRG9 X Kell blood group precursor-related family, member 9|XK-related protein 9 protein-coding 1345703 XKRX XK, Kell blood group complex subunit-related, X-linked XKRX and XKR3 (MIM 611674) are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM] 16431037,15772651,12477932 402415 AK296711,AY534239,AY589511,BC137010,BC137011,NM_212559,CH471115,Z73417,AI087330,NG_021224 BAG59304,AAT07088,AAT00456,AAI37011,AAI37012,Q6PP77,NP_997724,EAX02827,CAI41970 Hs.364911,Hs.726481 FLJ60646|XKR2|XPLAC|XRG2 OTTHUMP00000023661|X Kell blood group precursor-related, X-linked|XK-related protein 2|membrane protein XPLAC protein-coding 1344352 XKRY XK, Kell blood group complex subunit-related, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq] 1580863 9381176,12815422,12477932,9647734 9082 NM_004677,NG_004636,AC007742,CH471194,AF000997,BC132883,BC132885 NP_004668,EAW69704,AAC51844,AAI32884,AAI32886,A2RUG3,O14609,AAI48608,AAI53174 Hs.158346 XKRY1|XKRY2 Testis-specific XK-related protein on Y|X Kell blood group precursor-related, Y-linked|testis-specific XK-related protein, Y-linked 2 protein-coding 1353485 XKRY2 XK, Kell blood group complex subunit-related, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq] 12815422,12477932,9847074,9381176 353515 NM_001002906,NG_004636,AC024183,BC132901,BC132903 NP_001002906,AAI32902,AAI32904,AAI41490,AAI48773,A2RUG3 Hs.632286 XKRYP7 X Kell blood group precursor-related, Y-linked 2|X Kell blood group precursor-related, Y-linked pseudogene 7|XK, Kell blood group complex subunit-related, Y-linked 2|testis-specific XK-related protein, Y-linked 2 protein-coding 1604932 XKRYP1 XK, Kell blood group complex subunit-related, Y-linked pseudogene 1 12815422,9847074 379028 NG_004636,AC068541 pseudo 1604931 XKRYP2 XK, Kell blood group complex subunit-related, Y-linked pseudogene 2 12815422,9847074 379029 AC007379,NG_004636 pseudo 1604930 XKRYP3 XK, Kell blood group complex subunit-related, Y-linked pseudogene 3 12815422,9847074 379030 NG_004755,AC016752 pseudo 1604929 XKRYP4 XK, Kell blood group complex subunit-related, Y-linked pseudogene 4 12815422 379031 NG_004755,AC073649 pseudo 1604928 XKRYP5 XK, Kell blood group complex subunit-related, Y-linked pseudogene 5 12815422,9847074 379032 NG_004755,AC010682 pseudo 1604927 XKRYP6 XK, Kell blood group complex subunit-related, Y-linked pseudogene 6 12815422,9847074 379033 NG_004755,AC007965 pseudo 1342861 XLRL X-linked lymphocyte-regulated-like 1 (mouse) 8535073 7505 1346293 XM Xm(a) antigen 7506 1318735 XPA xeroderma pigmentosum, complementation group A This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1331525,1599876,1580863 20557883,20575039,20644561,20720310,20817763,20731661,20864414,20957144,20981350,19468048,20865363,10946233,17720715,8197175,10583946,10214908,1601884,19434073,19430706,19332728,19270000,19237606,19197159,19177501,19173862,19116388,19074750,19029193,18990748,18990233,18854777,18774935,18711149,18676680,18645534,18585952,18559563,18478970,18442012,18240296,18204222,18035379,17932354,17932351,17913280,17848622,17825393,17765667,17687452,17685459,17653764,17575242,17531525,17379210,17363013,17176115,17078101,17040931,16985021,16979838,16905156,16675950,16613913,16540648,16513681,16507781,16491090,16413230,16393248,16284373,16195237,15882075,15844177,15837542,15746040,15598786,15489334,15471894,15333465,15213713,15095299,12897146,12663511,12486030,12477932,12459522,12390028,12376498,12082027,11972036,11906820,11859086,11081631,11058119,10944529,10888881,10783332,10447254,9698541,9671271,9653453,8999876,8954802,8543191,8504220,8294029,8197174,7876263,7835901,7598728,7565690,2234061,1918083,1702221,1372103,1339397,11268218,20651370,20574439,16712791,19056823,19170196,19536092,19538122,19586908,19692168,19789190,19878615,19892827,19940136,19954624,20056640,20061190,20232390,20304803,20368362,20391138,20429839,20431719,20453000,20496165,20522537,9013642,20670893,20534089 1331525,1599876 7507 NM_000380,NR_027302,NG_011642,AF503166,AL445531,CH471105,U10347,U16815,AI961077,AL531629,BC014965,BT019518,CB155090,CR601727,CR624117,D14533 NP_000371,AAM18969,CAI15428,EAW58855,AAA92883,AAB60404,AAH14965,AAV38325,BAA03403,P23025,ABM84550,ABM86349 Hs.654364 XP1|XPAC DNA repair protein complementing XP-A cells|excision repair-controlling|xeroderma pigmentosum group A-complementing protein protein-coding 1313986 XPC xeroderma pigmentosum, complementation group C This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] 1599878,1580863,2317130 12509299,19714462,19941824,20571354,20601096,20658464,20817763,9734359,15302935,15231748,15107491,15010895,14729591,14690560,14688016,12944386,12890685,12815074,12713809,12505994,12496474,12486030,12477932,12242345,12177305,11872635,11279143,11259578,10734143,10447254,9804340,9415314,9373149,9164480,8692695,8604333,8298653,8125298,8088800,1522891,1461286,20649433,20575039,18177054,18097734,18089819,18067564,18053706,18035379,17932354,17923445,17913280,17897675,17882560,17825393,17712032,17705814,17685459,17684138,17682058,17657713,17653764,17575242,17531525,17508409,17498315,17438703,17374967,17363013,17325666,17196815,17164382,17164380,17119055,17086695,17081983,17078101,17052994,16985021,16965652,16957781,16858626,16823510,16820684,16794584,16627479,16571649,16537713,16533048,16527807,16510122,16492920,16399771,16393248,16373199,16351803,16284373,16258177,16105547,16086280,16081512,16061005,16043197,16002061,15992842,15964821,15922480,15914210,15886698,15882621,15878910,15863269,15849729,15837542,15746160,15731165,15729698,15700316,15661662,15657918,15623356,15533908,15494739,15489334,15471894,15353127,10873465,15231747,18024891,8168482,17088560,10583946,10214908,19434073,19350405,19270000,19237606,19177501,19124519,19116388,19074885,19027756,18955168,18854777,18838045,18830263,18809580,18785488,18774935,18771913,18709642,18701435,18682493,18676680,18645534,18630471,18574675,18559563,18544627,18478970,18320070,18285822,19280628,18270339,18196582,20488473,20616346,19170196,19478817,19536092,19538122,19609301,19625176,19661089,19692168,19706757,19789190,19805520,19878615,19892827,19902366,19924443,19953607,20054342,20056640,20061190,20106949,20150366,20157331,20193233,20199546,20201926,20232359,20368362,20369554,20377134,20391138,20429839,20453000,20460046,20496165,20522537,19059499,19759913,20731661,20887739,21047201,21077165,16030353,18685619 1599878,2317130 7508 NR_027299,NM_004628,NM_001145769,NG_011763,AC093495,AF261901,AY131066,CH471055,FJ695191,FJ695192,AI091587,AK222844,AK289761,AK295711,AK311039,AL710884,BC016620,CR615074,D21089,X65024,EU530523,EU530524,EU530525,EU530526,EU530527,EU530529,EU530532,EU530534,HM113488 NP_004619,NP_001139241,AAF87574,AAM77801,EAW64188,EAW64189,BAD96564,BAF82450,BAG58555,AAH16620,BAA04651,CAA46158,Q01831,ACD74564,ACD74565,ACD74566,ACD74567,ACD74568,ACD74569,ACD74571,ACD74573,ADI50189 Hs.475538 RAD4|XP3|XPCC DNA repair protein complementing XP-C cells|p125 protein-coding 733430 XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble X-prolyl aminopeptidase (EC 3.4.11.9) is a proline-specific metalloaminopeptidase that specifically catalyzes the removal of any unsubstituted N-terminal amino acid that is adjacent to a penultimate proline residue. Because of its specificity toward proline, it has been suggested that X-prolyl aminopeptidase is important in the maturation and degradation of peptide hormones, neuropeptides, and tachykinins, as well as in the digestion of otherwise resistant dietary protein fragments, thereby complementing the pancreatic peptidases. Deficiency of X-prolyl aminopeptidase results in excretion of large amounts of imino-oligopeptides in urine (Blau et al., 1988 [PubMed 3141711]).[supplied by OMIM] 21052031,11106490,19126663,15489334,15164054,14702039,12665801,12477932,10871044,9465902,9373149,8125298,3141711,1510698,16169070,16344560,16385451,18515364,20379614,20460270 7511 AL354951,CH471066,AF195530,AF272981,AK093693,AK095447,AK223513,AK289436,NM_020383,AK295756,AK304367,AL833411,BC005126,BC007579,BC013417,BX537682,CR456922,X95762,DA484161,NM_001167604,NR_030724 NP_065116,CAI14244,CAI14245,CAI14246,CAI14247,CAI14248,CAI14249,CAI14250,CAI14251,CAI14253,CAI14254,EAW49576,EAW49577,AAF97866,AAF75795,BAG52749,BAD97233,BAF82125,BAG58586,BAG65206,CAD38640,AAH05126,AAH07579,AAH13417,CAH18706,CAG33203,CAA65068,Q5T6G7,Q5T6G8,Q5T6G9,Q5T6H1,Q5T6H2,Q5T6H3,Q5T6H5,Q5T6H6,Q5T6H7,Q68EA4,Q9NQW7,ABW03865,ABW03612,NP_001161076 Hs.390623 APP1|SAMP|XPNPEP|XPNPEPL|XPNPEPL1 OTTHUMP00000020457|OTTHUMP00000020458|X-Pro aminopeptidase 1|X-prolyl aminopeptidase (aminopeptidase P)-like|X-prolyl aminopeptidase 1, soluble|aminoacylproline aminopeptidase|aminopeptidase P, cytosolic|cytosolic aminopeptidase P|soluble aminopeptidase P|xaa-Pro aminopeptidase 1 protein-coding 734376 XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq] 1580863 9375790,19178938,18515364,18158172,17003818,16175507,15772651,15489334,15342556,15203218,12477932,10894934,10737800,9765967,9628831,1510698,21052031,20625347 7512 NG_011479,AF195953,AL023653,CH471107,AF086417,AK300954,BC126174,BC143901,BF830085,BP270314,BQ224207,BX386512,CD617070,U90724,NM_003399 O43895,NP_003390,AAG28480,CAA19220,CAI43039,EAX11827,BAG62582,AAI26175,AAI43902,AAB96394 Hs.170499 APP2 X-Pro aminopeptidase 2|aminoacylproline aminopeptidase|mAmP|membrane-bound APP|membrane-bound AmP|membrane-bound aminopeptidase P|xaa-Pro aminopeptidase 2 protein-coding 1603202 XPNPEP3 X-prolyl aminopeptidase (aminopeptidase P) 3, putative 18029348,15708373,15489334,15461802,14743216,12477932,10591208,20179356,21068128 63929 NM_022098,AL035450,CH471095,Z98048,AI446638,AK310502,AK313770,AL365514,AL834310,BC001208,BC001681,BC004989,BC005331,BC011632,BC016735,BC023654,BC032537,BC037424,BC045166,BC053556,BX648018,CR456442,CR457396,AK301635 NP_071381,CAI19023,EAW60397,EAW60398,EAW60399,EAW60400,CAI20492,BAG36508,CAB97210,CAD38980,AAH01208,AAH01681,AAH04989,CAG30328,CAG33677,Q9NQH7,BAH13526 Hs.529163 APP3|NPHPL1 X-Pro aminopeptidase 3|aminopeptidase P3|probable Xaa-Pro aminopeptidase 3 protein-coding 735365 XPO1 exportin 1 (CRM1 homolog, yeast) The protein encoded by this gene mediates leucine-rich nuclear export signal (NES)-dependent protein transport. Exportin 1 specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq] 1580863 12805458,12724356,12529437,12519765,12517958,12493914,12477932,12239324,12217955,12196506,12134041,12134013,12089160,12065584,11932251,11889117,11884594,11839808,11836381,11782423,11779848,11716535,11604520,11571268,11551912,11425870,11313479,11309306,11238447,11152524,11149927,11119609,10891499,10875611,10835362,10786834,10611974,10604476,10601307,10518602,10430904,10381392,10358091,10347184,10330396,10209022,10202161,9368759,9323133,9323132,9311922,9205132,9111043,9070945,9049309,8633082,7745679,7637788,7634337,7543368,1648487,15189895,16354571,15574333,10779340,12070164,16895915,12176322,11545741,12210765,9368044,7878053,9837918,11118210,18809582,19339972,19117056,19082467,18923137,18715912,18687685,18641393,18624354,18606808,18316374,18306389,18256292,18059333,17869244,17764157,17726064,17715235,17711849,17616652,17405816,17142760,17099693,17064665,16943420,16707848,16675447,16580684,16552725,16504563,16484227,16294017,16140268,16041368,15908946,15815621,15814838,15790592,15635413,15632073,15574332,15574331,15556946,15513923,15507209,15489334,15364930,15302935,15175654,15126627,15117971,14729966,14702039,14630927,14617633,14612415,14554087,12915405,12861014,12821127,20127713,20151187,16319068,16511568,17148452,17363900,17643375,18245089,18246793,19339969,19522705,19574837,19812309,19828735,19858290,20003838,20018851,20026644,20085707,20233715,19545931,16196087,17141982,20562859 7514 NM_003400,AC016727,CH471053,AK094339,AK124769,AK289920,AK299039,AK312426,AK316481,AL833550,BC032847,BX492941,BX643790,BX647758,BX954288,CR609163,CR749840,D89729,Y08614 NP_003391,AAY14949,EAW99993,EAW99994,EAW99995,BAG54092,BAF82609,BAG61113,BAH14852,AAH32847,CAH56174,CAH18695,BAA23415,CAA69905,O14980,ABM82197 Hs.370770 CRM1|DKFZp686B1823|emb CRM1, yeast, homolog|Exportin-1 (required for chromosome region maintenance)|OTTHUMP00000201494|OTTHUMP00000201496|chromosome region maintenance 1 protein homolog|exp1|exportin 1 (CRM1, yeast, homolog)|exportin 1 (crm1, yeast, homolog)|exportin-1 protein-coding 1323777 XPO4 exportin 4 XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM] 1580863 10944119,19240061,17353931,17081983,16449645,16344560,15057823,14702039,12477932,11214970,8889548 64328 BC113571,BC113573,BQ184183,BX647843,DA119417,NM_022459,AL356285,AL512652,CH471075,AA418037,AB051508,AK023108,AK057924,AK129848,AK302760,AL831819,BC042504,BC050680,BC098402 AAI13572,AAI13574,Q0VG75,Q86VC1,Q8IVQ8,Q9C0E2,ADR83437,CAI15862,CAH71795,EAX08281,EAX08282,EAX08283,BAB21812,BAB14409,BAG63971,CAD38533,AAH42504,AAH50680,NP_071904 Hs.725169 FLJ13046|KIAA1721 exp4|exportin-4 protein-coding 1323025 XPO5 exportin 5 Exportin-5 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments.[supplied by OMIM] 4144860 20732906,20819778,20951941,18029348,19965479,20211803,20379614,12702765,17353931,19138993,19124606,19047128,16344560,15613540,15489334,15254228,15231748,14730017,14702039,14681208,14631048,14574404,14570900,12509441,12477932,12426393,12426392,12168954,11777942,10574462,20585341,20721975 4144860 57510 NM_020750,AL355802,CH471081,AB033117,AF271159,AF298880,AK001195,AK022718,AK023431,AK024301,AK025864,AK056619,AK127513,AK291452,AL137467,AL834207,BC000129,BC008347,BC009969,BC062635,BF108994,CR597693,DB068849 NP_065801,CAI42634,CAI42635,CAI42637,CAI42638,CAI42639,CAI42640,EAX04206,EAX04207,BAA86605,AAG53603,AAG17907,BAA91547,BAB14200,BAB14572,BAG51288,BAG51767,BAF84141,CAB70753,AAH00129,AAH08347,AAH09969,AAH62635,Q5JTE7,Q5JTE8,Q5JTF0,Q9H8N6,Q9HAV4 Hs.203206 FLJ14239|FLJ32057|FLJ45606|KIAA1291 OTTHUMP00000224035|exp5|exportin-5|ran-binding protein 21 protein-coding 1322976 XPO6 exportin 6 Exportins, such as XPO6, recruit cargo in the nucleoplasm in the presence of RAN (MIM 601179)-GTP and form ternary export complexes. These complexes are transported through nuclear pore complexes to the cytoplasm, where GTP is hydrolyzed and the export complex is disassembled.[supplied by OMIM] 1580863 14592989,16189514,15489334,15302935,14702039,12477932,12168954,9373149,9205841,8125298,17353931,20379614 23214 NM_015171,AC136611,CH471145,AB002368,AK026172,AK123846,AK223043,AY026388,BC004403,BC014071,BC078674,BC108286,BC130304,BC144189,CR601489,CR618868,CR626761 NP_055986,EAW55736,EAW55737,EAW55738,EAW55739,BAA20825,BAG53970,BAD96763,AAK01471,AAH04403,AAH14071,AAH78674,AAI08287,AAI30305,AAI44190,Q96QU8 Hs.460468 EXP6|FLJ22519|KIAA0370|RANBP20 RAN binding protein 20|exportin-6|ran-binding protein 20 protein-coding 1322111 XPO7 exportin 7 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM] 1580863 11024021,11071879,17353931,15489334,15282546,12477932,9872452,16169070,20139978,18256292 23039 NM_015024,AC087363,AC091171,CH471080,AB018288,AF064729,AK291472,AK299848,AK311616,AL597247,BC014219,BC030785,CN479571,DB460798,DC332379 NP_055839,EAW63733,EAW63734,EAW63735,EAW63736,BAA34465,AAF21771,BAF84161,BAG61710,AAH14219,AAH30785,Q9UIA9 Hs.172685 EXP7|KIAA0745|RANBP16 RAN binding protein 16|exp7|exportin-7|ran-binding protein 16 protein-coding 1313662 XPOT exportin, tRNA (nuclear export receptor for tRNAs) This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq] 1580863 9660920,17224653,16707848,15489334,12477932,12138183,11024021,10657246,9857198,9512417,20085707,20379614,20562859 11260 CR979468,NM_007235,AC135279,CH471054,AF039022,AK292884,AK308108,BC000950,BC020569,BQ215290,CR613510,CR617666,Y16414 NP_009166,EAW97128,EAW97129,EAW97130,EAW97131,EAW97132,AAC39793,BAF85573,AAH00950,AAH20569,CAA76202,O43592 Hs.85951 XPO3 exportin(tRNA)|exportin-T|tRNA exportin protein-coding 1354083 XPOTP1 exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1 170559 NG_001062,AL035458 XPO3P1|dJ785G19.1 pseudo 1315237 XPR1 xenotropic and polytropic retrovirus receptor 1580863 9990033,9927670,12477932,9988277,9110174,8619474,20410264,20379614 9213 NM_001135669,AL162431,AL358434,AL590085,AL603884,CH471067,CQ834682,CQ834686,AA425354,AB075495,AF089744,AF099082,AF115389,AK074789,NM_004736,AL133058,AL137583,BC028576,BC041142,DB461474,U79279,AK309750 NP_004727,NP_001129141,CAH74089,CAH74090,CAH74113,CAH74114,CAH70457,CAH70458,EAW91086,EAW91087,CAH05556,CAH05558,AAD10196,AAD08928,AAD17211,CAB61383,CAB70825,AAH41142,Q9UBH6 Hs.227656 FLJ90308|SYG1|X3 X-receptor|protein SYG1 homolog|xenotropic and polytropic murine leukemia virus receptor X3|xenotropic and polytropic retrovirus receptor 1 protein-coding 732968 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq] 2302570,2302571,2302572,2302567,2302568,2302577,2302578,2302580,2302573,2302574,2302569,2302575,2302566,2302852,2293824,2302576,2302855,1331525,1580863,1578408,2317128,2317367 19421825,14755728,15044383,8978692,19634112,19628051,19604089,19592152,19573080,19563645,19536092,19514640,19493423,19492240,19484764,19481674,19481337,19446740,19446452,19444915,19428062,19414392,19393248,19367277,19362955,19350405,19339270,19334053,19332728,19329222,19286843,19284666,19280628,19274602,19266243,19247656,19240242,19237606,19230024,19203783,19194663,19191745,19177501,19176223,19174490,19162321,19157633,19155274,19147860,19124519,19124499,19116388,19109787,19101034,19074885,19074750,19073198,19064572,19061777,19052983,19052039,19051060,19034980,19031937,19031698,19029194,19012493,18999926,18990748,18987609,18971944,18946634,18852222,18851872,18830263,18829510,18825991,18823566,18806752,18800344,18797464,18779313,18765423,18764855,18752184,18713157,18712175,18701435,18678286,18676680,18672023,18669164,18662670,18641418,18636124,18630471,18627000,18603015,18582155,18569591,18544627,18509181,18505590,18505345,18504145,18483312,18481169,18478337,18448328,18442016,18439038,18420361,18415712,18410587,18407370,18400332,18393249,18386788,18365755,18364571,18358500,18357393,18349297,18349267,18347181,18336890,18330515,18320070,18313385,18272472,18267032,18214807,18199464,18188695,18043991,18006925,18006764,17987379,17984110,17971348,17968463,17961713,17953974,17952468,17939032,17935911,17925548,17922186,17912469,17899335,17898541,17898525,17880707,17874204,17870518,17849423,17767850,17712032,17705814,17696747,17695538,17682675,17650498,17643379,17637462,17630853,17630376,17614221,17614107,17605237,17603793,17593927,17559126,17558308,17556064,17555083,17549067,17548684,17535647,17531525,17504986,17504380,17491266,17486273,17479411,17476281,17438703,17425776,17417947,17412371,17410042,17409981,17401013,17385092,17374967,17374727,17355790,17355263,17316890,17290738,17290401,17283177,17273745,17264068,17242676,17230526,17220334,17214369,17203305,17197435,17196815,17191090,17164360,17159780,17116943,17111423,17087834,17086695,17081983,17078101,17063276,17034901,17028303,17018785,17009149,16997330,16982113,16978516,16966185,16965996,16965236,16963196,16956909,16951227,16944782,16940014,16931584,16924699,16896002,16890595,16881598,16880786,16875718,16875604,16872898,16865671,16844323,16829685,16824555,16796765,16785472,16713569,16652373,16652158,16639733,16638864,16622263,16621887,16609022,16596326,16596238,16571649,16569655,16564556,16551674,16542819,16542436,16520463,16510609,16510122,16492928,16492913,16483478,16475125,16457697,16442856,16435384,16425350,16407418,16406883,16405741,16397295,16395669,16373199,16369171,16343742,16328064,16324877,16319991,16311243,16308313,16284769,16284386,16284380,16280050,16234265,16221808,16199318,16195237,16172217,16172101,16157195,16142409,16137195,16111035,16097394,16043197,16038584,16037119,16030121,16030112,16030105,16000577,15992842,15990162,15990020,15987676,15971256,15970793,15938845,15938843,15927541,15914277,15914210,15894689,15887293,15878910,15878096,15867196,15838887,15824172,15816625,15802298,15800946,15800678,15797631,15767338,15764301,15760950,15746160,15737490,15734960,15734955,15709194,15705867,15680411,15679883,15668931,15666192,15665590,15635413,15612468,15610045,15608415,15596292,15587988,15561718,15555565,15555397,15534883,15533591,15498778,15491645,15468052,15459223,15450429,15381933,15368334,15354414,15342556,15333465,15313891,15301704,15298955,15260972,15252855,15225899,15216398,15213713,15205355,15199549,15173214,15159312,15141024,15113441,15107487,15104288,15066923,15066914,15066279,15057824,15044328,15010895,14729591,14716779,14693738,14688016,14679022,14652287,14652281,14652276,14643949,14639127,14625810,14614013,14602524,14578150,14568296,14519756,14500814,12960109,12933815,12893086,12883749,12873719,12869411,12844488,12750239,12739102,12718576,12692111,12680158,12643788,12618003,12565173,12552590,12477932,12433703,12393447,12359351,12223443,12198176,12183419,12175549,12164325,12160895,12151350,12124811,12115580,12085237,12082022,12042672,12010862,11996973,11948190,11909950,11895912,11872635,11867203,11815397,11809696,11782372,11714530,11712813,11707423,11532866,11532376,11467963,11400117,11352725,11304692,11303590,11285194,11219769,11219768,11163244,11104903,11058877,10783319,10773072,10611252,9776979,9705932,9584196,9542526,9485007,9136882,8432525,8264637,7789989,7585546,7545953,2591959,2247054,17353931,15520167,20553853,19661379,20723587,20731661,20734048,20802378,20813000,20850372,20852942,20863523,20863780,20935060,20935063,20957144,20975374,20976253,20978448,20981350,21029695,21037106,21047201,21048041,21057378,16543152,11956078,15367657,16964241,17353262,17474147,18029348,18095605,19127428,19170196,19465687,19596613,19625176,19631990,19633665,19636001,19656722,19657998,19661089,19662459,19672255,19673050,19679847,19692168,19701703,19707910,19711438,19713684,19731014,19733688,19754350,19762325,19773279,19786980,19789190,19821085,19826048,19846968,19858398,19863846,19880550,19886181,19902366,19908066,19914098,19914697,19915856,19936841,19958624,19959686,20439344,19960344,19962393,19963133,20003463,20013148,20013659,20033188,20044627,20061190,20070155,20093049,20100738,20104979,20140625,20150366,20167976,20170971,20183911,20209647,20216541,20218899,20223788,20226869,20229274,20232390,20300859,20306073,20331623,20334523,20351257,20364408,20368715,20375340,20378691,20379614,20391347,20394984,20395310,20403997,20411322,20426969,20429839,20431719,20442803,20450747,20453000,20477822,20495366,20496165,20504250,20511665,20514470,20522537,20530453,20549339,20577654,20385586,18095557,19913121,20192583,20466601,20471329,20574454,20601096,20610542,20628086,20634891,20644561,20652227,20708344,20719408,20814250,20817763,20819327 2302570,2302571,2302572,2302567,2302568,2302577,2302578,2302580,2302573,2302574,2302569,2302575,2302566,2302852,2293824,2302576,2302855,1331525,1578408,2317128,2317367 7515 AC018758,NM_006297,AF512504,CH471126,L34079,Z23736,AB208781,AK293542,AK300163,AK315332,BC023593,BP349667,CR456728,CR591751,CR600609,CR610347,CR614880,CR617745,M36089 NP_006288,AAG09061,AAM34791,EAW57201,EAW57202,EAW57203,BAD92018,BAG57023,BAG61945,BAG37732,AAH23593,CAG33009,AAA63270,P18887,Q59HH7 Hs.98493 RCC DNA repair protein XRCC1|X-ray repair cross-complementing protein 1|X-ray-repair, complementing defective, repair in Chinese hamster|x-ray repair cross-complementing group 1 protein protein-coding 1349181 XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq] 1580863,2317365,2317507 20610542,20127279,20813000,21077165,19192406,19127255,19124519,19124506,19116388,19074885,19064572,19064565,18990748,18990028,18830263,18824251,18579371,18410587,18383855,18270339,18188695,18086758,18046624,17986315,17922422,17685459,17604576,17557904,17141189,17078101,17018785,16609022,16540687,16485136,16284386,16284380,16214912,16195237,15958648,15734952,15489334,15459223,15386379,15364127,15339847,15184273,15126335,15123651,15066914,15010895,14645207,14578164,12975363,12477932,12023985,12023982,11842113,11842112,11834724,11751635,11744692,11301337,11285194,10871607,10749867,9628903,19573080,19536092,19367277,19339270,19237606,10517641,10422536,9660962,9126486,7711722,7607692,15115758,15065660,20189471,14704354,19690184,19692168,19772428,19773279,19789190,20004634,20150366,20403997,20453000,20496165,20522537 2317365,2317507 7516 NG_027988,NM_005431,AC003109,AC104843,AF520762,CH471173,Y17033,AF035587,AK313607,BC042137,CR749256,Y08837 NP_005422,AAC05802,AAM55241,EAW53967,EAW53968,CAA76597,AAC05369,BAG36372,AAH42137,CAH18112,CAA70065,O43543,Q68DV8 Hs.647093 DKFZp781P0919 DNA repair protein XRCC2|RAD51-like|X-ray repair cross-complementing protein 2|X-ray repair, complementing defective, repair in Chinese hamster protein-coding 1315699 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] 1580863,1331525,2317130 16215984,19913121,20590474,20601096,20610542,20628086,20634891,20644561,20708344,20804747,20817763,20211142,20731661,20813000,20947146,20976253,21035470,21047201,21077165,17476281,17410042,17401013,17374967,17351336,17197435,17191090,17177211,17164360,17159780,17158087,17131345,17116943,17114795,17078101,17063279,17063276,17034901,17018785,16997330,16981340,16966185,16963196,16940014,16824555,16791138,16728435,16707649,16652373,16638864,16622263,16621732,16609022,16571649,16564556,16551674,16542436,16540687,16510122,16505003,16501254,16492913,16485136,16475125,16425350,16407418,16373199,16369171,16357593,16344560,16343742,16308313,16284386,16284380,16271954,16234265,16214912,16195237,16137195,16037119,16030112,16002061,15992842,15990020,15971256,15933498,15914277,15914210,15887293,15887211,15878910,15878096,15843498,15824172,15767338,15746160,15737490,15734952,15680411,15679883,15491645,15489334,15468052,15459223,15450429,15386379,15372620,15354414,15333465,15313891,15312685,15292210,15199549,15184273,15126335,15102670,15066923,15066914,15019159,15010895,15009726,14729591,14702039,14688016,14652287,14652281,14643949,14578164,14534887,14511439,12917199,12869411,12815008,12565173,12477932,12393447,12376526,12223443,12115490,12082022,12036913,12023982,11842113,11744692,11532866,11459987,11331762,11304692,11285194,11059748,10541549,9542526,9660962,7603995,19573080,19549356,19536092,19481674,19429237,19426727,19414392,19393248,19367277,19339270,19330829,19286843,19280628,19251090,19237606,19177501,19127255,19124506,19116388,19096231,19092295,19064572,19064565,19031937,19027952,19012493,18990748,18987609,18977234,18852222,18830263,18829510,18824251,18768166,18756535,18752184,18712175,18708406,18701435,18676680,18630471,18627000,18582155,18581889,18579371,18559563,18551366,18543213,18504145,18495522,18448328,18410587,18365755,18336773,18335219,18330515,18300452,18270339,18212739,18204928,18188695,18086758,18067130,18046624,18033323,17986315,17971348,17953974,17901044,17898541,17712032,17705814,17701750,17685459,17630853,17627014,17617021,17614221,17605237,17557904,17549067,17535647,975276,15115758,15065660,19789975,20687897,10422536,14704354,19170196,19625176,19656722,19661089,19692168,19724896,19733688,19772428,19773279,19789190,19815090,19886181,19914098,19915856,19962393,20004634,20049524,20054644,20061190,20140625,20150366,20199546,20229274,20306073,20331623,20334523,20368715,20429839,20453000,20462983,20496165,20500515,20522537,20530453,20549576,18095557 1331525,2317130 7517 NM_001100118,NM_001100119,NM_005432,NG_011516,AF037222,AF508041,AL049840,CH471061,AF035586,AK022829,AK023646,AK124498,AK126706,BC001036,BC002949,BC011725,BT007417,BX161398,CR603680,CR605233,CR610241,CR613005,CR622268,DB041321,BC073820 NP_001093588,NP_001093589,NP_005423,AAC04805,AAM23015,EAW81837,EAW81838,EAW81839,EAW81840,EAW81841,EAW81842,AAC05368,BAG51121,BAG51212,BAG54042,AAH01036,AAH02949,AAH11725,AAP36085,CAD61884,O43542,Q53XC8,ABM83088,ABM86281 Hs.592325 CMM6 DNA repair protein XRCC3|RAD51-like|X-ray repair cross-complementing protein 3 protein-coding 1353234 XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing generates several transcript variants. [provided by RefSeq] 20610542,20726224,20811692,18773976,20813000,20920336,20844317,9259561,9242410,9259651,12517771,9809069,16439205,12091904,16291214,19573080,19536092,19443403,19408343,19332554,19237606,19116388,19103754,19092295,19074885,19064572,18990028,18952251,18852222,18830263,18768505,18676680,18630527,18579371,18410587,18383855,18270339,18246529,18177646,18165945,18164646,18158905,18046455,17987338,17963495,17901044,17606631,17557904,17317666,17290226,17272270,17241822,17124166,17097754,16835328,16741161,16728435,16713569,16571728,16485136,16478998,16412978,16344560,16189514,15746160,15680411,15520013,15489334,15385968,15380105,15177042,15177040,15194694,12589063,17353931,14607114,14576825,14561766,12750264,12547193,12509254,12477932,12218164,11702069,11062157,10945980,10854421,10786799,10757784,10320474,10202163,9875844,9430729,9352367,8548796,7665175,1697445,17567543,16169070,18458108,16275660,16964241,17396150,18029348,19170196,19625176,19661089,19692168,19729825,19773279,19789190,19837014,19861517,20150366,20232359,20331623,20332465,20453000,20496165,20522537,20683005,20852255 7518 AB017445,AK290739,BC005259,BC010655,BC016314,BT007216,CR599717,CR602998,CR617390,DA067761,U40622,NM_022406,NM_003401,AC016568,AC022416,AC034211,AC094085,AF055278,AF055279,AY940097,CH471084,NM_022550 EAW95902,BAB20668,BAF83428,AAH05259,AAH10655,AAH16314,AAP35880,AAC50339,Q13426,Q7Z763,ACE87045,NP_072044,NP_071801,NP_003392,AAD47297,AAD47298,AAX14046,EAW95897,EAW95898,EAW95899,EAW95900,EAW95901 Hs.567359 DNA repair protein XRCC4|OTTHUMP00000222360|OTTHUMP00000222361|X-ray repair cross-complementing protein 4|X-ray repair, complementing defective, repair in Chinese hamster protein-coding 733855 XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq] 1580863 12177300,12171929,12145312,12145311,12145310,12145306,12077346,12017286,11985783,11937624,11741501,11739746,11493912,11443112,11406603,11328876,11158303,11070027,10880505,10757784,10673353,10514012,10446239,10340383,10213687,10207052,10026262,9636207,9542526,9442054,9373149,9358055,9325337,9312071,9214634,8702520,8586433,8240370,8125298,8088837,8073286,8031790,8021251,7882982,2760028,2308937,2212941,2211668,1631138,1505945,11239001,10984620,10219089,9488450,8621488,10823961,11279128,12756247,15824061,15100233,12023295,12065431,19414375,19408343,19251090,19237606,19217823,19205005,19192406,19181665,19177010,19074885,19064572,18936166,18768166,18706726,18676680,18579371,18415044,18403903,18386192,18252799,18164703,18000863,17984099,17982634,17943968,17904587,17901044,17671430,17534116,17507472,17496833,17389609,17355791,17289874,17214517,17187679,17159921,17124166,16713581,16537541,16448389,16137195,16014171,15910003,15824172,15817152,15758953,15723802,15680411,15640154,15635413,15613478,15561718,15489334,15377652,15342556,15220460,15123719,15075319,14734561,14702039,14617623,14511439,12867423,12750264,12672812,12547193,12519782,12518983,12477932,12467650,12403924,12393188,12391174,12377759,12324457,7957065,1537839,10409678,18809223,10783163,12091904,16291214,20047046,19906305,18029348,19661379,19666485,19833092,20819778,10535943,16541024,17158748,17220478,17283121,17308091,17396150,17626748,19170196,19341103,19528488,19536092,19625176,19661089,19672258,19692168,19715578,19794960,19893054,20044645,20157594,20195511,20201926,20232390,20379614,20453000,20463177,20496165,20522537,20610542,20644561,20811692 7520 NM_021141,AC008123,AC009521,AC010686,AC012513,AF039597,CH471063,DQ787434,AK026166,AK096408,AK222603,AK290740,BC019027,BC095442,BG717693,BP375944,BU184024,CR599959,CR615055,CR625379,J04977,M30938,X57500,HH794622 NP_066964,AAY14659,AAY24231,AAC52087,EAW70562,EAW70563,ABG46942,BAD96323,BAF83429,AAH19027,AAH95442,AAA59475,AAA36154,CAA40736,O43594,P13010,Q53T09,Q53TC2,ABM83586,ABM86851,CBX87168 Hs.388739 FLJ39089|KARP-1|KARP1|KU80|KUB2|Ku86|NFIV 86 kDa subunit of Ku antigen|ATP-dependent DNA helicase 2 subunit 2|ATP-dependent DNA helicase II 80 kDa subunit|CTC box-binding factor 85 kDa subunit|CTC85|CTCBF|DNA repair protein XRCC5|Ku autoantigen, 80kDa|Ku86 autoantigen related protein 1|OTTHUMP00000164061|OTTHUMP00000206791|TLAA|X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)|X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)|X-ray repair cross-complementing protein 5|X-ray repair, complementing defective, repair in Chinese hamster|lupus Ku autoantigen protein p86|nuclear factor IV|thyroid-lupus autoantigen|x-ray repair complementing defective repair in chinese hamster cells 5 protein-coding 732846 XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq] 1580863,704404 19913121,20610542,20628086,20538911,11328876,16541024,17220478,17283121,19041431,19265193,19467273,19672258,19692349,19794960,19809793,20157594,20368362,20383123,20453000,20496165,20496270,20522537,19906305,10823961,10880505,16407974,19661379,19666485,19833092,20697560,20047046,17213819,20127252,20493174,7957065,1537839,10409678,18809223,10783163,9826654,10508516,12091904,12145306,16291214,15824061,2917966,15100233,12023295,12065431,19408343,19251090,19237606,19219618,19181665,19177010,19134120,19116388,19074885,19064572,18990028,18768166,18757043,18706726,18546291,18487076,18374504,18362350,18303113,18208821,18164703,18000863,17982634,17971348,17952468,17885668,17768380,17714764,17671430,17617666,17496833,17479409,17389609,17334224,17202845,17187679,17159921,17124166,16857680,16713581,16448389,16440001,16360032,16169070,16097034,15958648,15905197,15827325,15782130,15723802,15640154,15635413,15613478,15489334,15461802,15383276,15302935,15231748,15220460,15159402,15123719,15075319,15019772,14991539,14734561,14702039,14627815,14570916,12867423,12756247,12750264,12672812,12664629,12664628,12547193,12519782,12518983,12509254,12494870,12477932,12467650,12377759,12368356,12324457,12177300,12171929,12145309,12145308,12145307,11821378,11796732,11790298,11749722,11493912,11457852,11406603,11314007,11279128,11239001,11238996,11162511,11158303,11112778,11070027,10984620,10750018,10591208,10570175,10514012,10446239,10377944,10219089,10213687,10207052,10026262,9914162,9798959,9742108,9488450,9430697,9362500,9312071,9223317,9200330,8954777,8702520,8621488,8524317,8240370,7882982,2466842,1639139,1608402,12551933,10064605,10757784,16794079,18710944,19394292,21070772,20570964 2547 BC012154,BC018259,BC072449,CD683757,CR456492,CR542219,CR590193,CR590825,CR590963,CR593727,CR596781,CR597340,CR597702,CR598672,CR599117,CR600608,CR601209,CR601883,CR602610,CR603871,CR606444,CR606919,CR608552,CR611977,CR612325,CR612909,CR613229,AY870329,CH471095,CS330042,Z83840,AK055786,AK293439,AK304580,AK315618,BC001583,BC008343,BC010034,NM_001469,CR613344,CR615167,CR616120,CR617294,CR617974,CR619333,CR623859,CR624280,J04607,J04611,M32865,S38729,CS545602,HH794620 AAH12154,AAH18259,AAH72449,CAG30378,CAG47015,AAH10034,NP_001460,AAW34364,EAW60446,EAW60447,EAW60448,CAL00149,CAB46206,CAQ09818,CAQ09819,CAQ09820,BAG51575,BAG56943,BAG65368,BAG37986,AAH08343,AAA61177,AAA51733,AAA36155,AAB22381,P12956,Q6IC76,CAK54520,CAK54819,ABZ92421,ACE87172,ACE86491,CAN36299,CBX87167 Hs.292493 CTC75|CTCBF|G22P1|KU70|ML8|TLAA 5'-dRP lyase Ku70|5'-deoxyribose-5-phosphate lyase Ku70|70 kDa subunit of Ku antigen|ATP-dependent DNA helicase 2 subunit 1|ATP-dependent DNA helicase II 70 kDa subunit|ATP-dependent DNA helicase II, 70 kDa subunit|CTC box binding factor 75 kDa subunit|CTC box-binding factor 75 kDa subunit|DNA repair protein XRCC6|Ku autoantigen p70 subunit|Ku autoantigen, 70kDa|OTTHUMP00000199333|OTTHUMP00000199334|OTTHUMP00000199335|X-ray repair cross-complementing protein 6|lupus Ku autoantigen protein p70|thyroid autoantigen 70kD (Ku antigen)|thyroid autoantigen 70kDa (Ku antigen)|thyroid-lupus autoantigen p70 protein-coding 1605901 XRCC6BP1 XRCC6 binding protein 1 10219089,12477932,11571779 91419 NM_033276,AC084033,CH471054,AF078164,BC012776,BC033881,BC115381,BC115382 NP_150592,EAW97091,AAD31085,AAH12776,AAH33881,AAI15382,AAI15383,Q9Y6H3 Hs.61188 KUB3|MGC134817|MGC134818 Ku70 binding protein 3|Ku70-binding protein 3|XRCC6-binding protein 1|mitochondrial inner membrane protease ATP23 homolog protein-coding 1602597 XRCC6BP2 XRCC6 binding protein 2 10219089 654443 AF078528 AAD31086,Q9Y6H2 KUB4 protein-coding 1350899 XRCC8 X-ray repair complementing defective repair in Chinese hamster cells 8 8879275 7521 1348971 XRN1 5'-3' exoribonuclease 1 SEP1 localizes to cytoplasmic foci containing a complex of mRNA-degrading enzymes. In addition to mRNA metabolism, yeast Sep1 has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly.[supplied by OMIM] 1580863 18029348,15231747,17081983,15489334,14702039,14580940,14527413,12515382,12477932,12426100,11329013,9802570,9049243,17148452,18172165 54464 CH471052,AK096177,AK123897,AK304312,AL117516,AL133623,AY137776,BC039314,BC048104,BC078146,BG197321,BX640905,CR627160,CR627396,CR749518,NM_001042604,NM_019001,AC023508,AC109992,HC879400,HD033109 EAW78971,EAW78972,EAW78973,BAC04718,BAG53979,BAG65165,CAB63749,AAN11306,AAH39314,AAH48104,CAE45950,CAH10490,CAH18332,Q8IZH2,AAI41556,NP_001036069,NP_061874,CBM42916,CBV35649 Hs.435103 DKFZp434P0721|DKFZp686B22225|DKFZp686F19113|FLJ41903|SEP1 5'-3' exoribonuclease 1|OTTHUMP00000214578|strand-exchange protein 1 homolog protein-coding 1320991 XRN2 5'-3' exoribonuclease 2 This gene shares similarity with the mouse Dhm1 and the yeast dhp1 gene. The yeast gene is involved in homologous recombination and RNA metabolism, such as RNA synthesis and RNA trafficking. Complementation studies show that Dhm1 has a similar function in mouse as dhp1. The function of the human gene has not yet been determined. Transcript variants encoding different isoforms have been noted for this gene; however, their full-length nature is not known. [provided by RefSeq] 1580863 10409438,15231747,15565158,12429849,17639083,17081983,16964243,16648491,16147866,15635413,15489334,15302935,14702039,14527413,12477932,11780052,11230166,18955505,19915612 22803 NM_012255,AL117332,AL158013,CH471133,AF064257,AF152169,AK000084,AK001573,AK172858,AK302846,AK303312,AK314602,AL136841,AY382900,BC000315,BC006417,BC032075,BC131775,BC142960,BF665945,BU620774,CF994999,CR602097,CR607652 NP_036387,CAI19756,CAH71495,EAX10186,EAX10187,AAD55138,AAQ13577,BAA90934,BAG50941,BAG64035,BAG64381,CAB66775,AAR24369,AAH06417,AAI31776,Q9H0D6,AAI60100 Hs.255932 5'-3' exoribonuclease 2|DHP protein|Dhm1-like protein (mouse homolog) protein-coding 1313568 XRRA1 X-ray radiation resistance associated 1 17295261,16344560,14702039,12477932,12908878 143570 NM_182969,AP000560,AP001992,AF439934,AK056364,AK074152,AK091449,AY163836,BC037294,BC040541,BC064584,BK000541,CR749605,DA104497,DB040217,DB082524 NP_892014,AAP97315,BAB84978,BAG52364,AAO23657,AAH64584,DAA00367,CAH18400,Q68D30,Q6P2D8,Q8TEH2 Hs.370145 X-ray radiation resistance-associated protein 1 protein-coding 1349596 XS X-linked suppressor of LU antigens 7523 1353683 XWNPEP X-tryptophanyl aminopeptidase (aminopeptidase W) 7524 1316534 XYLB xylulokinase homolog (H. influenzae) The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. Multiple transcripts resulting from use of alternate polyadenylation sites have been noted for this gene. [provided by RefSeq] 1580863 9763671,14702039,12477932,10231028,19389651,20379614 9942 NM_005108,AP006191,AP006193,CH471055,AB015046,AK001205,AK022601,AK025728,AK293325,AK314386,BC030231,BC039712,BC052984,BC137076,BC137080,CR603420,BI090475 NP_005099,EAW64531,EAW64532,EAW64533,EAW64534,BAA31527,BAG50868,BAG56843,BAG37011,AAH30231,AAI37077,AAI37081,O75191,Q6PIS3 Hs.659985 FLJ10343|FLJ12539|FLJ22075 xylulose kinase protein-coding 737486 XYLT1 xylosyltransferase I Xylosyltransferase (XT; EC 2.4.2.26) catalyzes the transfer of UDP-xylose to serine residues within XT recognition sequences of target proteins. Addition of this xylose to the core protein is required for the biosynthesis of the glycosaminoglycan chains characteristic of proteoglycans.[supplied by OMIM] 634510,2313138,2313142,2313145,1580863,2313136,2313146 16133423,11099377,18029348,19197251,19014925,18763033,18294457,17980567,17635914,17189266,17003309,16778156,16759312,16571645,16569644,16225459,16164625,15461586,15294915,12477932,11814476,11087729,10383739,19762916,20379614 634510,2313138,2313142,2313145,2313136,2313146 64131 NM_022166,AC009152,AC099494,AC109446,CH471203,AI524006,AJ277441,AJ539163,AK000198,AL050125,BC036692,BC045778,BU620961,BX647541,NG_015843 NP_071449,EAW50949,CAC16787,CAD62248,Q86Y38,AAI56040 Hs.22907,Hs.610023 PXYLT1|XT-I|XT1|XTI|XYLTI O-xylosyltransferase 1|beta-D-xylosyltransferase 1|peptide O-xylosyltransferase 1|xylT-I|xylosyltransferase 1|xylosyltransferase iota protein-coding 731564 XYLT2 xylosyltransferase II The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. [provided by RefSeq] 634510 19389916,11099377,19289103,19197251,19014925,18789912,18763033,18023272,17194707,17003309,16569644,16164625,15489334,12975309,12477932,11814476,11087729,10383739,9588955 634510 64132 NM_022167,NG_012175,AC015909,CH471109,AJ277442,AK299999,AY358090,BC017084,BC036069,BC052262 NP_071450,EAW94626,EAW94627,CAC16788,BAG61818,AAQ88457,AAH52262,Q9H1B5,AAI56445 Hs.463416 PXYLT2|XT-II|XT2|xylT-II OTTHUMP00000221157|UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase|peptide O-xylosyltransferase 1|protein xylosyltransferase 2|xylosyltransferase 2 protein-coding 1314010 YAF2 YY1 associated factor 2 The protein encoded by this gene interacts with YY1, a zinc finger protein involved in negative regulation of muscle-restricted genes. This gene product itself contains a single N-terminal C2-X10-C2 zinc finger, and in contrast to YY1, is up-regulated during myogenic differentiation. It also facilitates proteolytic cleavage of YY1 by the calcium- activated protease, m-calpain, suggesting a mechanism by which this protein antagonizes the negative effect of YY1. [provided by RefSeq] 16344560,18029348,9016636,11593398,12706874,19240061,17081983,15489334,12477932,12004135,11953439,20379614 10138 AA789222,BX649019,DA011078,DA491895,NM_001190977,NM_001190979,NM_001190980,NR_034000,NM_005748,AC020629,CH471111,AI654632,AK127531,AK291355,AK294260,AK296191,BC037777 NP_001177906,NP_001177908,NP_001177909,NP_005739,EAW57834,EAW57835,EAW57836,EAW57837,EAW57838,EAW57839,EAW57840,BAF84044,BAG57554,BAG58921,AAH37777,Q8IY57,ABZ92154,ABZ92285 Hs.649195,Hs.708084 DKFZp779H1820|MGC41856 YY1-associated factor 2 protein-coding 1314421 YAP1 Yes-associated protein 1, 65kDa This gene encodes the human ortholog of chicken YAP protein which binds to the SH3 domain of the Yes proto-oncogene product. This protein contains a WW domain that is found in various structural, regulatory and signaling molecules in yeast, nematode, and mammals, and may be involved in protein-protein interaction. [provided by RefSeq] 1580863 20219076,7644498,19111660,19015275,18953429,18725387,18701449,18640976,18617895,18413746,18280240,18175224,18158288,17980593,17889654,17823615,17502622,17438369,17110958,17081983,16964243,16894141,16772533,16596258,16061658,15800888,15324660,15302935,15096513,15023535,12807903,12535517,12477932,12118366,11743730,11358867,11278685,11278422,10562288,10228168,17974916,18703216,19371381,19615732,19705503,19914168,19935651,19952108,20016275,20048001,20153295,20226166,20379614,20823509,21205866,9305852,9202023,7782338,19158374,11604498,15893728,20729916,20868367,21116278,20677011,20947521 10413 NM_001130145,AP000942,AP001527,AP002777,CH471065,X80507,AK300414,AK304485,AK310620,AK316116,AL832620,AY316529,BC026212,BC038235,NM_006106,BU073244,CR618214,CX780993,DC419625,AB567720,AB567721,AA854862,AI128142,NM_001195044,NM_001195045 NP_006097,NP_001123617,EAW67011,EAW67012,EAW67013,EAW67014,EAW67015,CAA56672,BAG62143,BAG65295,BAH14487,CAD89963,AAP92710,AAH38235,P46937,Q86T74,BAJ41471,BAJ41472,NP_001181973,NP_001181974 Hs.503692 YAP|YAP2|YAP65|YKI 65 kDa Yes-associated protein|Yes-associated protein 1, 65kDa|yes-associated protein 2|yes-associated protein beta|yes-associated protein delta|yorkie homolog protein-coding 3322381 YAP1P1 Yes-associated protein 1 pseudogene 1 442266 AL355365,NG_022376 pseudo 3277197 YAP1P2 Yes-associated protein 1 pseudogene 2 100419909 AL121878,NG_022692 pseudo 1316914 YARS tyrosyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq] 1580863 10102815,17353931,9162081,18096501,16429158,15840810,15779907,15489334,14702039,14671330,14606043,12665801,12509991,12477932,12427973,12416978,12016229,11956181,11927599,11856731,10438485,9427763,9373149,8552597,8125298,18029348,19477417,19561293 8565 NM_003680,NG_008408,AC114489,AC114493,CH471059,AK026535,AK125213,AK126444,AK127182,AK127879,AK223608,BC001933,BC004151,BC016689,BC035242,CR622576,CR626320,U40714,U89436,HB892438,HB904994,HB909583,HB931028,HC949847,HC962403,HC966992,HC988437,HI179134 NP_003671,EAX07506,EAX07507,EAX07508,BAG54166,BAD97328,AAH01933,AAH04151,AAH16689,AAB39406,AAB88409,P54577,ABM82592,ABM85779,CBF71274,CBF84232,CBF89282,CBG00408,CBU95132,CBV01176,CBV03421,CBV13928,CBX53875 Hs.213264 CMTDIC|TYRRS|YRS|YTS tyrosine tRNA ligase 1, cytoplasmic|tyrosyl--tRNA ligase|tyrosyl-tRNA synthetase, cytoplasmic protein-coding 1606290 YARS2 tyrosyl-tRNA synthetase 2, mitochondrial 20598274,17353931,10810093,17997975,17672918,15840810,15489334,14702039,12477932,16344560,8889548,20877624,15779907,19615732 51067 NM_001040436,AC087588,CH471116,AF132939,AK024057,AK026619,AK130935,CR599422,CR600056,CR602460,CR603090,CR613924,CR616684,CR621180,CF594113,AI861961,BM979973,DA748673,EB386795,BC015625 NP_001035526,EAW88517,EAW88518,AAD27714,BAB14806,Q9Y2Z4,ABM83989,ABM87314,AAH15625 Hs.505231 CGI-04|FLJ13995|MLASA2|MT-TYRRS|TYRRS|mt-TyrRS tyrosine tRNA ligase 2, mitochondrial|tyrosine--tRNA ligase|tyrosyl-tRNA synthetase, mitochondrial protein-coding 732883 YBX1 Y box binding protein 1 1580630,1580637 15750632,10559330,10082537,18851979,18809583,18800033,18571458,18377424,18316615,18307537,18258596,18172301,18075498,17967494,17822788,17686777,17595327,17572683,17459055,17418094,17339575,17081983,16508950,16455055,16415342,16354698,16101161,16093352,15806160,15735691,15702969,15615704,15592455,15489334,15327898,15146197,15146077,15136035,15123725,14752049,14718551,1738588,12674497,15229244,3174636,12226669,19517610,19323802,19151767,19098458,18978732,14604279,14559993,12917425,12743601,12695516,12646178,12604611,12565174,12477932,12379116,12192037,12168660,12080043,11973333,11907223,11851341,11788582,11751932,11731270,11698476,11175333,11162447,10906122,10817758,10809782,10573156,10318844,9927044,9830047,9472608,9461420,9409758,8657568,8254772,8188694,7862639,7651426,7628487,2977358,1891370,16198352,16251272,16797541,17289661,17643375,18335541,19029303,19411069,19483673,19648825,19713745,19838214,19901122,19930682,19996271,20004191,20011972,20017303,20190818,20332234,8871564,20398058,20599698,20596676,20696395 1580630,1580637 4904 AC098484,CH471059,X96666,AK309996,AK311708,BC000064,BC002411,BC010430,BC013838,BC015208,BC018393,BC020164,BC038384,BC065571,BC070084,BC071708,BC072014,BC090038,BC098435,BC106045,CN353145,CR590526,CR591111,CR593602,CR594786,CR595367,CR597183,CR597479,CR599304,CR599843,CR600196,CR603148,CR603229,CR603575,CR603903,CR605858,CR606326,CR606600,CR607423,CR607838,CR609077,CR611343,CR613480,CR613748,NM_004559,CR614014,CR614365,CR617386,CR617437,CR617953,CR618087,CR618356,CR619575,CR622381,CR623505,CR625314,CR626201,CR626307,CR626550,J03827,L28809,M24070,M83234,M85234,Z70765 NP_004550,EAX07148,EAX07149,CAA65446,AAH00064,AAH02411,AAH10430,AAH15208,AAH18393,AAH20164,AAH38384,AAH65571,AAH70084,AAH71708,AAH72014,AAH90038,AAH98435,AAI06046,AAA61308,AAA20871,AAA35750,AAA59949,AAA36569,P67809,Q05D43,Q15905,Q6PKI6,Q7KZ24,ABM82535,ABM85728 Hs.473583 BP-8|CSDA2|CSDB|DBPB|MDR-NF1|MGC104858|MGC110976|MGC117250|NSEP-1|NSEP1|YB-1|YB1 CBF-A|CCAAT-binding transcription factor I subunit A|DNA-binding protein B|EFI-A|OTTHUMP00000008732|OTTHUMP00000038221|Y-box transcription factor|Y-box-binding protein 1|enhancer factor I subunit A|major histocompatibility complex, class II, Y box-binding protein I|nuclease sensitive element binding protein 1|nuclease-sensitive element-binding protein 1 protein-coding 1344488 YBX1P1 Y box binding protein 1 pseudogene 1 7628487,2977358 50631 NG_001276,AL391261,L37516 NSEP1P|PSDBPB1 pseudo 1626569 YBX1P2 Y box binding protein 1 pseudogene 2 646531 NG_006863,AC073073,CH236947,CR601484 Hs.604234 pseudo 1606288 YBX2 Y box binding protein 2 YBX2 is a germ-cell specific member of the vertebrate Y box family of nucleic acid-binding proteins (Gu et al., 1998 [PubMed 9780336]; Tekur et al., 1999 [PubMed 10100484]).[supplied by OMIM] 10100484,18372033,18339382,16624424,16479255,16344560,15489334,14702039,12477932,9780336,20378615 51087 NM_015982,AC003688,CH471108,AB208818,AF096834,AI805280,AK092747,AK315035,BC033800,BC047760,CR617829,DB065912 NP_057066,EAW90223,EAW90224,EAW90225,BAD92055,AAD30662,BAG37519,AAH33800,AAH47760,Q59HE1,Q9Y2T7 Hs.567494 CONTRIN|CSDA3|DBPC|MGC45104|MSY2 DNA-binding protein C|MSY2 homolog|Y-box-binding protein 2|germ cell specific Y-box binding protein|germ cell-specific Y-box-binding protein protein-coding 1604990 YDJC YdjC homolog (bacterial) 18177738,12477932,20190752,21102463 150223 NM_001017964,AP000553,CH471095,BC017281,BC053663,BC057814,BC064568,BC096754,BC110075,BC110799,BC133043,BC133047,BI597711,BQ050386,CR590781,CR594858,CR596616,CR597037,CR600451,CR611449,CR613078,CR613432,CR614195,CR618402,CR620409,CR624561 NP_001017964,EAW59461,EAW59462,EAW59463,EAW59464,AAI10076,AAI33044,AAI33048,A8MPS7 Hs.355952 MGC133160 YdjC homolog protein-coding 1347752 YEATS2 YEATS domain containing 2 1580863 15489334,15302935,14702039,12477932,10574462,18838386,20379614 55689 NM_018023,AC068769,AC131160,CH471052,AB033023,AK001063,AK022903,AK023370,AK090720,AK091654,BC009276,BC032368,BC043393,BC082270,BC150273,CA416892,CR605431 NP_060493,EAW78315,EAW78316,EAW78317,BAA86511,BAB14546,AAH32368,AAH82270,AAI50274,Q8N5H6,Q9H8R0,Q9ULM3 Hs.632575 FLJ10201|FLJ12841|FLJ13308|FLJ33401|FLJ34335|KIAA1197 OTTHUMP00000210964|YEATS domain-containing protein 2 protein-coding 1353043 YEATS4 YEATS domain containing 4 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. [provided by RefSeq] 1580863 20618999,10913114,9302258,18591461,18391951,18214854,12477932,11903063,11901157,11756182,11521196,8733125,16705155,15647280,15489334,15196461,14966270,14702039,12963728,12620397,16387653,16698963,17643375 8089 NM_006530,AC117502,CH471054,AJ245746,AK001413,BC000994,U61384 NP_006521,EAW97223,EAW97224,CAC01935,BAA91678,AAH00994,AAD12188,O95619,ABZ92455 Hs.4029 4930573H17Rik|B230215M10Rik|GAS41|NUBI-1|YAF9 NuMA binding protein 1|YEATS domain-containing protein 4|glioma-amplified sequence 41|glioma-amplified sequence-41|nuBI1|nuMA-binding protein 1 protein-coding 1321347 YES1 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq] 1580863 1384720,12558988,12640114,12668668,18029348,1715582,17254967,18328427,2436037,19240061,17898870,17692281,17418139,17192257,17143518,17109515,17081983,17007035,16880514,16439366,16400523,16344560,16289864,16094384,15951569,15592455,15588985,15489334,15148312,15039424,14980517,12846735,12538589,12509223,12477932,12456296,12138090,12080032,11950934,11901164,11684709,11546805,11312300,11278422,11127814,11071635,11039464,10858437,10562288,10339567,9892651,9794236,8918464,8889548,8702385,8449516,7929439,7685273,7681396,7641887,7537495,7521304,3332005,2983418,2267131,2067846,1720539,1544885,15557335,16374509,19258394,19267251,19797678,19807924,19893451,20056178,20098684,9632142,19757166,20796316 7525 NM_005433,AP000894,AP001020,AP001178,CH471113,AK314063,AU123956,BC031080,BC048960,BM969640,BU753688,H80401,M15990 NP_005424,EAX01709,EAX01710,BAG36767,AAH48960,AAA35735,P07947 Hs.194148 HsT441|P61-YES|Yes|c-yes OTTHUMP00000162194|Yamaguchi sarcoma oncogene|cellular yes-1 protein|proto-oncogene c-Yes|proto-oncogene tyrosine-protein kinase Yes protein-coding 1346157 YESP v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene 3137198 7526 NG_001213,AL022329,D00333 D22S670|SYR|YES2 pseudo 732225 YIF1A Yip1 interacting factor homolog A (S. cerevisiae) 634527,1580863 9373149,8824393,8125298,15308636,18718466,16344560,15990086,15489334,12477932,11943201,11099500,10970842,18029348 634527 10897 NM_020470,AP001107,CH471076,CQ834898,AF004876,AK226003,AK291124,AK308988,AK310521,BC001299,BC009892,CR456710,CR597866,CR598403,CR606217,CR608977,CR614462,CR615524,CR617538,CR623077,DB085949,S83365 NP_065203,EAW74509,CAH05664,AAD01206,BAF83813,AAH01299,AAH09892,CAG32991,AAB50850,O00606,O95070 Hs.446445 54TM|FinGER7|YIF1|YIF1P 54TMp|OTTHUMP00000128271|YIP1-interacting factor homolog A|Yip1p-interacting factor|protein YIF1A|putative Rab5-interacting protein|putative transmembrane protein 54TMp|yip1p-interacting factor protein-coding 1604767 YIF1B Yip1 interacting factor homolog B (S. cerevisiae) 17207965,12975309,12477932,11181995,8889548 90522 NM_001039672,CH471126,AF258578,AK027130,AK304479,AL833382,AW630507,AY358965,BC007644,BC014974,BC025257,BC091477,AC011479,NM_001039673,NM_001145463,NM_001039671,NM_001145461,NM_001145462,NM_033557,BM703847,C02248,CA487891,CF127536,CR594602,CR597352,CR597805,CR598537,CR601973,CR616030,CR625148,BG765536 ADQ31664,NP_001034761,EAW56771,EAW56772,EAW56773,EAW56774,AAG23781,BAB15669,BAH14197,CAI46138,AAQ89324,AAH07644,AAH14974,AAH25257,AAH91477,NP_001034762,NP_001138935,NP_001034760,NP_001138933,NP_001138934,NP_291035,Q5BJH7 Hs.280741,Hs.631544 FLJ23477|FLJ50074|FinGER8|MGC39135 YIP1-interacting factor homolog B|protein YIF1B protein-coding 1604013 YIPF1 Yip1 domain family, member 1 11256614,16381901,15489336,15489334,15466293,14702039,12477932,11230166,11076863,15146197 54432 NM_018982,AL031427,AL391003,CH471059,AK000823,AK300240,AK315183,AL713668,BC009674,BC064590,CR595743,CR601785,CR602343,CR612966,CR615001,CR621847,CR623623,CR624867,AL596480,BI757212,CN308348,NR_036639,NR_036640 NP_061855,EAX06727,EAX06728,EAX06729,EAX06730,BAA91389,BAH13241,BAG37624,CAD28474,AAH09674,AAH64590,Q9Y548,CAL37672 Hs.11923 DJ167A19.1|FinGER1 OTTHUMP00000010047|YIP1 family member 1|protein YIPF1 protein-coding 1604600 YIPF2 Yip1 domain family, member 2 11256614,16381901,16189514,15489336,15489334,12477932,11076863 78992 AC011442,CH471106,BC000056,BC013014,CR591972,CR601786,NM_024029 NP_076934,EAW84157,EAW84158,EAW84159,AAH00056,AAH13014,Q9BWQ6,CAL37510 Hs.720136 FinGER2|MGC3262 YIP1 family member 2|protein YIPF2 protein-coding 1317816 YIPF3 Yip1 domain family, member 3 11256614,16381901,15489336,15489334,14702039,14574404,12490290,12477932,11230166,11076863,16189514,16341674,18029348 25844 CR622890,CR623137,BE562740,BM836904,CA308984,CR533541,CR590349,CR590752,CR592266,CR595236,CR596249,CR596581,CR597677,CR598162,CR599615,CR601987,CR602267,CR603202,CR603408,CR606024,CR607768,CR610470,CR610983,CR611260,CR611748,CR612415,CR615118,CR615153,CR615623,CR616384,CR616987,CR618212,CR619054,CR619437,CR619816,CR621993,CR622532,NM_015388,AL355802,CH471081,AF162672,AK000946,AK021433,AK021655,AK022757,AK298150,AK308961,AL050274,BC019297,DC387416 Q5JTD4,Q5JTD5,Q5JTD6,Q9GZM5,Q9HAM0,CAL38524,CAL38604,CAG38572,NP_056203,CAI42622,CAI42623,CAI42624,CAI42626,EAX04203,AAM21161,BAA91439,BAB13824,BAB13866,BAB14231,BAG60426,CAB43375,AAH19297 Hs.440950 C6orf109|DKFZp566C243|FinGER3|KLIP1|RP3-337H4.3|dJ337H4.3 OTTHUMP00000016462|OTTHUMP00000016463|OTTHUMP00000217265|OTTHUMP00000217266|OTTHUMP00000217267|OTTHUMP00000217268|OTTHUMP00000217272|killer lineage protein 1|natural killer cell-specific antigen KLIP1|protein YIPF3 protein-coding 1604267 YIPF4 Yip1 domain family, member 4 16189514,15489336,15489334,14702039,12880961,12477932,11076863,16381901,11256614,15342556,8889548 84272 NM_032312,AL121653,CH471053,AB072898,AK098486,BC004875,BP207600,BU608699 NP_115688,EAX00448,EAX00449,EAX00450,BAE45710,BAC05315,AAH04875,Q9BSR8,CAL38397 Hs.468099 FinGER4|MGC11061|Nbla11189 YIP1 family member 4|protein YIPF4|putative protein product of Nbla11189 protein-coding 1602093 YIPF5 Yip1 domain family, member 5 11489904,18718466,15990086,15922870,15611160,15592455,15498874,15489334,15342556,14702039,12975309,12477932,9373149,8125298,20237155,19509059,19845895,17207965 81555 NM_001024947,NM_030799,AC008383,CH471062,AB014733,AF140225,AF318329,AK054576,AK124065,AK223515,AK307251,AY037152,AY358863,AY640925,AY640926,AY640927,AY640928,AY640929,AY640934,BC007829,BC014253,BC024737,BP310538,BX647859,CR749463 NP_001020118,NP_110426,EAW61863,EAW61864,EAW61865,BAB20270,AAG48521,AAL55836,BAB70763,BAG53996,BAD97235,AAK67644,AAQ89222,AAV51256,AAV51257,AAV51258,AAV51259,AAV51260,AAH07829,AAH14253,AAH24737,CAH18295,Q969M3,ADQ31662 Hs.372050 DKFZp313L2216|FinGER5|SB140|SMAP-5|SMAP5|YIP1A OTTHUMP00000223244|YIP1 family member 5|YPT-interacting protein 1 A|five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5|golgi membrane protein SB140|protein YIPF5|smooth muscle cell associated protein 5|smooth muscle cell-associated protein 5 protein-coding 1605821 YIPF6 Yip1 domain family, member 6 18029348,11256614,16381901,16189514,15772651,15489336,15489334,14702039,12477932,11076863,15146197 286451 NM_173834,AL672138,AL928603,CH471132,AK024673,AK026979,AK095555,AK292835,AK303992,AL117461,BC012469,CN311465,NM_001195214 NP_776195,CAI41510,CAI41511,CAI41477,CAI41478,EAX05376,EAX05377,BAF85524,BAG64909,AAH12469,Q96EC8,CAL38630,NP_001182143 Hs.82719 FinGER6|MGC21416|RP13-253K9.1 OTTHUMP00000023453|YIP1 family member 6|protein YIPF6 protein-coding 1604708 YIPF7 Yip1 domain family, member 7 16344560,14702039,12477932,9847074 285525 NM_182592,AC093852,AC096586,AC108478,CH471069,AK096895,BC103995,BC103996,DB299886 NP_872398,EAW93015,EAW93016,BAC04887,AAI03996,AAI03997,Q8N8F6 Hs.596000 FLJ39576|FinGER9|MGC120164 YIP1 family member 7|five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 9|protein YIPF7 protein-coding 1605797 YJEFN3 YjeF N-terminal domain containing 3 17533573,15489334,15057824,14702039,12477932 374887 AC011448,CH471106,AK094976,AK126916,BC020948,BC093948,BC112285,DB551327,DQ778079,DQ778080,NM_198537,BI520231,BX097402,NM_001190328 NP_940939,EAW84827,EAW84828,EAW84829,BAC86749,AAH93948,AAI12286,ABI63349,ABI63344,A6XGL0,Q6ZT45,NP_001177257,AAI48457 Hs.534453 FLJ44968|MGC138490 OTTHUMP00000221708|OTTHUMP00000221709|apolipoprotein A1 binding protein|hYjeF_N3|hYjeF_N3-19p13.11|yjeF N-terminal domain-containing protein 3|yjeF_N3 protein-coding 735770 YKT6 YKT6 v-SNARE homolog (S. cerevisiae) This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq] 18029348,15215310,15479160,9211930,16821082,16354670,16344560,15544955,15489334,15044687,14702039,14607937,12690205,12477932,12388752,11927603,11884350,11474112,9373149,8125298,17643375 10652 NM_006555,AC006454,CH236960,CH471128,AB451317,AB451447,AF091079,AK075018,AK097209,AK223488,AK299158,AK312622,AU130339,BC007319,BT007078,CR456989,CR542008,CR617047,U95735 NP_006546,EAL23763,EAW61111,EAW61112,EAW61113,BAG70131,BAG70261,AAC72948,BAD97208,BAG61206,BAG35508,AAH07319,AAP35741,CAG33270,CAG46805,AAB81131,O15498,Q9UES0,ABM81579,ABM84759 Hs.520794 OTTHUMP00000209268|R-SNARE|SNARE protein Ykt6|YKT6 v-SNARE protein|YKT6, S. cerevisiae, homolog of|prenylated snare protein|synaptobrevin homolog YKT6 protein-coding 1351286 YLPM1 YLP motif containing 1 1302519,1580863 17890166,17081983,16344560,15511642,15489334,15302935,14702039,12508121,12477932,7596406,16169070,20562859,15231748,17148452,19041431,19615732 1302519 56252 NM_019589,AC006530,AC007956,AK090435,AK095760,AK297582,AL832365,BC007792,BC023570,BC044636,BX102033,DB096717,L40396,L40400,L40403 NP_062535,AAF61275,BAC03416,BAG59971,AAH07792,AAH23570,AAH44636,AAC42006,AAC42008,P49750,Q6PJ41,Q86YA8,Q8NF45,AAI72585 Hs.531111 C14orf170|ZAP|ZAP113|ZAP3 YLP motif-containing protein 1|ZAP113|nuclear protein ZAP|nuclear protein ZAP3 protein-coding 733459 YME1L1 YME1-like 1 (S. cerevisiae) The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863,727774 15489334,15164054,14702039,12975309,12477932,12214059,11042152,10930580,10843804,20877624,16385451 727774 10730 NM_139312,AJ295618,AL160291,AL162272,CH471072,AF018171,AF070656,AF151782,AJ132637,AK001259,AK022930,AK291292,AK297973,AK309708,AK314372,AY358484,BC007795,BC019602,BC023507,BC024032,CR611030,NM_014263,HB871143,HB885661,HC928552,HC943070 NP_055078,NP_647473,CAB99462,CAI16904,CAI16905,CAI16906,CAI16907,CAC19650,CAI12217,EAW86068,EAW86069,EAW86070,EAW86071,EAW86072,AAB70570,AAD20962,AAK57555,CAB51858,BAF83981,BAG60283,AAQ88848,AAH07795,AAH19602,AAH23507,AAH24032,Q5T8D2,Q6PJ89,Q96I63,Q96TA2,Q9NQ51,Q9Y2Q2,CBF59687,CBF67033,CBU84931,CBU91906 Hs.74647,Hs.499145 FTSH|MEG4|PAMP|YME1L ATP-dependent metalloprotease FtsH1 homolog|ATP-dependent metalloprotease YME1L1|ATP-dependent zinc metalloprotease YME1L1|YME1-like protein 1|meg-4|presenilin-associated metalloprotease protein-coding 1349839 YME1L2 YME1-like 2 (S. cerevisiae) 10591208 23749 NG_002636,AP000535 YME1L2 pseudo 1604806 YOD1 YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA8 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 16710414,14702039,12477932,19615732,19818707,7644498 55432 NM_018566,AL445493,CH471100,AK128014,AL833081,BC137166,CR590739,BC137167 NP_061036,CAH70775,CAH70776,EAW93509,BAC87233,CAD89975,AAI37167,AAI37168,Q5VVQ6 Hs.567533,Hs.711982 DKFZp451J1719|DUBA8|OTUD2|PRO0907|RP11-164O23.1 DUBA-8|HIN-7|HIV-1-induced protease 7|OTU domain containing 2|OTU domain-containing protein 2|YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)|hsHIN7|ubiquitin thioesterase OTU1 protein-coding 1351763 YPEL1 yippee-like 1 (Drosophila) This gene encodes a potential zinc-binding protein and is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein may play a role in the regulation of cellular morphology and may function during craniofacial development. [provided by RefSeq] 1580863 15556292,15489334,15461802,14702039,12477932,11473580,7757816,20379614,20508983 29799 CH471095,CR933630,AB098734,AB098735,AF060862,AF305069,AI004498,AK096530,AW006162,AW161786,BC015229,BC034486,BC048303,BC074501,BI461654,BI559478,BI836931,BQ422551,CR456376,CR616192,Z41424,NM_013313,AP000553 CAI45937,CAK54512,CAK54811,EAW59478,BAD51375,BAD51376,AAC15461,AAL09353,AAH34486,AAH74501,CAG30262,O60688,NP_037445 Hs.517436 FKSG3|MGC64992 DiGeorge syndrome-related protein|protein yippee-like 1 protein-coding 1604154 YPEL2 yippee-like 2 (Drosophila) 19107206,15556292,15489334,14702039,12477932,20056645,20508983 388403 NM_001005404,AC091059,AL831930,CH471109,AA604677,AB098736,AF305195,AI540782,AK096866,AK097253,BC127924,BC132884,BC132886 NP_001005404,EAW94407,EAW94408,EAW94409,EAW94410,BAD51377,AAL09354,AAI27925,AAI32885,AAI32887,Q96QA6,ADR83473 Hs.463613 DKFZp761C2021|FKSG4 DiGeorge syndrome-related protein|protein yippee-like 2 protein-coding 1347620 YPEL3 yippee-like 3 (Drosophila) 15556292,15489334,14702039,12477932,20388804,20508983 83719 NM_031477,NM_001145524,AC012645,CH471238,AB098737,AF305622,AK022409,AK026047,BC005009,BC050664,CR598881,CR604822,CR606841,CR611674,CR623470 NP_113665,NP_001138996,EAW79922,EAW79923,EAW79924,EAW79925,BAD51378,AAL09365,AAH05009,AAH50664,P61236 Hs.513491 MGC10500 protein yippee-like 3 protein-coding 1345149 YPEL4 yippee-like 4 (Drosophila) 1580863 20555386,15556292,15489334,14702039,12477932,20508983 219539 NM_145008,AP000662,CH471076,AB098738,AK054775,AK054967,AK124577,BC029228,BC064995,BC104781,BC111012,BC112119 NP_659445,EAW73765,EAW73766,EAW73767,EAW73768,EAW73769,BAD51379,BAB70805,BAG51446,BAG54054,AAH29228,AAI04782,AAI11013,AAI12120,Q8N6P9,Q96NS1 Hs.135978 FLJ30213|MGC102723|MGC138324 protein yippee-like 4 protein-coding 1320113 YPEL5 yippee-like 5 (Drosophila) 15815621,15556292,15489334,12477932,11240639,10810093,20508983,20580816 51646 AK307099,BC000836,BC047237,CR590716,CR612144,CR612194,CR615384,CR617186,CR617677,CR620890,CR622707,CR623255,DB484378,NM_001127399,NM_001127400,NM_001127401,AC016907,CH471053,AB098739,AF135161,AF151885,AF172940,AK025730,NM_016061 AAH00836,AAH47237,P62699,NP_057145,NP_001120871,NP_001120872,NP_001120873,AAY14780,EAX00499,EAX00500,EAX00501,EAX00502,EAX00503,EAX00504,EAX00505,BAD51380,AAF43785,AAD34122,AAD47882 Hs.515890 CGI-127 protein yippee-like 5|yippee protein protein-coding 1606217 YRDC yrdC domain containing (E. coli) 19279227,16024787,12730717,12477932,2675563,17643375 79693 NM_024640,AL929472,CH471059,AF250397,AK027129,AK129676,AL524812,AY172561,AY286019,AY286020,BC008984,BC067857,BC068057,BC080186,CR593798,CR606796,CR612568,CR615600,CR625266 NP_078916,CAH70083,EAX07317,EAX07318,AAQ14263,BAB15668,AAO41711,AAP37053,AAP37054,AAH08984,AAH67857,AAH68057,AAH80186,Q86U90 Hs.301564 DRIP3|FLJ23476|FLJ26165|IRIP|RP11-109P14.4|SUA5 dopamine receptor interacting protein 3|dopamine receptor-interacting protein 3|hIRIP|ischemia/reperfusion inducible protein|ischemia/reperfusion-inducible protein homolog|yrdC domain-containing protein, mitochondrial protein-coding 1604798 YSK4 YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) 15815621,15489334,14702039,12477932 80122 NM_025052,AC016725,AC020602,CH471058,AK026727,AK097522,AK122935,AK131216,AK309454,AY574901,AY574902,AY574903,AY574904,AY574905,NM_001018046,BC034417,BC137276,BC137277,BC144555,BG484791 NP_001018056,NP_079328,AAY14999,EAX11642,EAX11643,BAB15538,AAT81410,AAT81411,AAT81412,AAT81413,AAT81414,AAH34417,AAI37277,AAI37278,AAI44556,Q56UN5 Hs.659395 FLJ23074|RCK OTTHUMP00000082723|SPS1/STE20-related protein kinase YSK4|regulated in COPD kinase|regulated in COPD, protein kinase|yeast Sps1/Ste20-related kinase 4 protein-coding 732940 YTHDC1 YTH domain containing 1 12477932,12368078,11853319,10973987,10564280,17081983,16964243,16565220,16344560,15815621,15489334,15302935,15175272,14702039,12755701,11118435,9473574,15345239,20686370 91746 NM_133370,NM_001031732,AC074378,CH471057,AB075846,AK056430,AK090836,AK098515,AL157447,AL832559,BC041119,BC053863,DA191646 NP_588611,NP_001026902,AAY41024,EAX05570,EAX05571,BAB85552,BAB71181,AAH41119,AAH53863,Q96MU7 Hs.175955 KIAA1966|YT521|YT521-B YTH domain-containing protein 1|putative splicing factor YT521|splicing factor YT521-B|splicing factor yt521-b protein-coding 1348696 YTHDC2 YTH domain containing 2 737633 17081983,15302935,14702039,12477932,9373149,8125298,19615732,16341674 737633 64848 NM_022828,AC010389,AC093208,CH471086,AK000915,AK025593,AK095368,AK096486,AK131450,AK225316,AK310855,AL049305,AW052121,BC019100,BC137285,BE295472,BM827416,CA943109,CB268902,CR627037,CR614354 NP_073739,EAW48978,EAW48979,EAW48980,BAB15183,BAD18595,AAI37286,Q6ZMY0,Q9H6S0 Hs.231942 OTTHUMP00000222864|probable ATP-dependent RNA helicase YTHDC2 protein-coding 1318986 YTHDF1 YTH domain family, member 1 15489334,14702039,12477932,11780052,19615732 54915 NM_017798,AL096828,CH471077,CQ834648,AB055518,AK000398,AK024546,AK095795,AL834366,BC003681,BC016920,BC025264,BC050284,CR594400 NP_060268,CAC09391,CAI23456,EAW75305,EAW75306,CAH05539,BAB62751,BAA91138,BAG53130,CAD39029,AAH03681,AAH16920,AAH25264,AAH50284,Q9BYJ9 Hs.708666 C20orf21|FLJ20391 DACA-1|YTH domain family 1|YTH domain family protein 1|dermatomyositis associated with cancer putative autoantigen 1 protein-coding 1344237 YTHDF1P YTH domain family, member 1 pseudogene 402220 NG_004396,AC106748 YTHDF1P pseudo 1322711 YTHDF2 YTH domain family, member 2 1580863 10508479,16858696,16799135,16344560,12477932,12368078,15342556,17643375 51441 NM_016258,AL356786,AL645729,CH471059,CQ834214,CQ834216,AB451335,AB451484,AF155095,AF192968,AF432214,AK074276,AK292581,AK303833,BC002559,BF792382,CR593745,CR594279,CR595878,CR599207,DA697091,AA603037,BP320783,DC425394,NG_016746,NM_001172828,NM_001173128 NP_057342,CAI21658,CAH72429,EAX07673,EAX07674,EAX07675,CAH05322,CAH05323,BAG70149,BAG70298,AAD42861,AAF08813,AAL99921,BAF85270,BAG64779,AAH02559,Q9Y5A9,ABM83083,ABM86278,NP_001166299,NP_001166599 Hs.532286 HGRG8|NY-REN-2 9430020E02Rik|CLL-associated antigen KW-14|YTH domain family protein 2|high-glucose-regulated protein 8|renal carcinoma antigen NY-REN-2|yth domain family 2 protein-coding 1352303 YTHDF2P YTH domain family, member 2 pseudogene 10508479 400209 NG_004109,AL132639 HGRG8|NY-REN-2|YTHDF2P pseudo 1313142 YTHDF3 YTH domain family, member 3 737633 12477932,11230166,11076863,11256614,16381901,15489336,15489334,15342556,14702039 737633 253943 NM_152758,AC011978,CH471068,AK002173,AK056219,AK093081,AK127574,AK298544,AL050081,AL831816,AL832005,AL832335,AL832369,BC037492,BC052970,BP223018,BX537996 NP_689971,EAW86864,EAW86865,EAW86866,EAW86867,BAB71122,BAC04046,BAG54526,BAG60741,CAD38530,CAH56224,CAH56223,AAH52970,CAH56480,Q658Z6,Q7Z739,Q8N3V9,Q8NA80,Q96MZ5,CAL38359,CAL38736 Hs.491861 FLJ31657 YTH domain family 3|YTH domain family protein 3|yth domain family 3 protein-coding 1349494 YWHAA tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide 7527 737527 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq] 2306031,2298728,1331525,1580863 17255105,11984006,11520933,15231831,18029348,12963375,9069260,10195903,15284440,16636147,12657644,19360691,18094049,17717073,17531190,17229891,17098443,17081065,16679322,16581770,16368544,16282323,16166738,16045749,16024783,15883043,15726117,15629149,15489334,15389601,15324660,15324659,15229649,15159416,15057270,15022330,14743216,14680818,14676191,12937170,12919677,12911633,12871587,12669242,12665801,12618428,12582162,12507503,12482592,12477932,12468542,12453887,12446771,12438239,12437930,12424248,12364343,12360521,12176984,11996670,11985497,11912194,11886850,11784866,11780052,11555644,11549316,11531413,11313964,11279064,10931830,10869435,10862767,10840038,10785390,10775038,10713667,10620507,10559254,10441394,14679215,10407019,9921901,9705322,9581554,9524113,9428519,9422753,9369453,9367879,9341175,9144171,8702721,8617504,8515476,8037685,7890696,7644510,15103018,16968670,15265780,15142377,15708996,12620389,10848612,17353931,9543386,15163635,15454081,10644344,16227609,20562859,20936779,10712923,12433946,14651979,14675149,14701738,15032605,15696159,16511560,16775625,16868027,17292828,17974916,18460465,18762889,19172738,19173300,19558434,19615732,19821490,20070120,20381070,9069267,20388496 2306031,2298728,1331525 7529 NM_003404,NM_139323,AL008725,CH471077,AB209759,AB451260,AB451386,AF064847,AF107406,AK292717,AL834170,BC001359,BC010352,BF316820,CR595602,CR603709,CR614687,X57346 NP_003395,NP_647539,CAA15497,CAI95660,CAI95661,EAW75893,EAW75894,EAW75895,EAW75896,BAD92996,BAG70074,BAG70200,AAD44524,BAF85406,AAH01359,CAA40621,P31946,Q4VY19,Q4VY20,Q59EQ2,Q9Y649,ACE87591,ACE86904 Hs.643544 GW128|HS1|KCIP-1|YWHAA 14-3-3 alpha|14-3-3 protein beta/alpha|brain protein 14-3-3, beta isoform|protein 1054|protein kinase C inhibitor protein 1|protein kinase C inhibitor protein-1|tyrosine 3-monooxgenase/tryptophan 5 monooxgenase activation protein, beta polypeptide|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide protein-coding 1354151 YWHAD tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide 7530 1350802 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq] 15883043,15838597,15722337,15635413,15494311,15489334,15369779,15364926,15229649,15023544,14970201,14966136,14702039,14559997,14517258,12919677,12917326,12796778,12757707,12665801,12657644,12621583,12507503,12477932,12438239,12176984,12154078,12042314,11985497,11953308,11912194,11864996,11784866,11782387,11533041,11531413,11486037,11278287,11172812,11118213,11114197,10887173,10869435,10713667,10644344,10559254,10441394,10407019,10088721,9524113,9452471,9427749,9371399,9369453,9312143,9144171,9111084,8858348,8702721,8684458,7615088,11208609,16968670,15265780,15142377,15708996,10358015,10330186,11504882,14679215,20462248,10788521,7644510,19173300,18658164,18573912,17728103,17430600,17278997,17081065,16923798,16679322,16581770,16407301,16189514,16045749,16043481,10449590,11076968,12221128,12433946,1266503,12787561,12852856,15057270,15459208,15696159,16376338,16462731,16482218,16511560,16511572,16775625,16868027,17643375,17720156,18029348,19172738,19558434,19584063,19615732,19635726,19996099,20224040,20417184,20508983,7790358,16341674,20388496,20565895,16227609,20562859,20936779 7531 NR_024058,NG_009233,AB017103,AC032044,CH471108,AK128785,AK295260,AK295997,AK296050,AK316185,AK316201,AY883089,BC000179,BC001440,BM755263,BT007161,NM_006761,CR594680,CR595118,CR599291,CR600610,CR605234,CR608365,CR609747,CR609773,CR609824,CR610427,CR610584,CR611764,CR612456,CR615586,CR617332,CR619511,CR620149,CR622415,CR622589,CR623549,CR624231,DC365395,U20972,U28936,U43399,U43430,U54778,CR593257,CR589991,AK296555 NP_006752,BAA32538,EAW90627,EAW90628,EAW90629,BAG54733,BAG58249,BAG58772,BAG58814,BAH14556,BAH14572,AAX68683,AAH00179,AAH01440,AAP35825,AAC50175,AAA75301,AAC50625,AAD00026,AAC50710,P62258,Q4VJB6,ABW03326,BAG59178 Hs.513851 14-3-3E|FLJ45465|FLJ53559|KCIP-1|MDCR|MDS 14-3-3 epsilon|14-3-3 protein epsilon|mitochondrial import stimulation factor L subunit|protein kinase C inhibitor protein-1|tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide protein-coding 736065 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq] 12482592,10433554,11824616,10486217,19173300,19034380,18843201,18426801,12154078,11996670,11886850,11531413,11237865,10880354,10785390,10559254,9524113,8930394,8702721,8037685,7939645,7829101,15708996,15265780,15142377,17353931,10620507,11504882,15778465,12176984,19772960,20639859,20870266,21109226,18054924,17611984,17394238,17284169,17109079,16581770,16516142,16223726,16189514,16045749,15883043,15598710,15489334,15324660,15159416,15057270,14743216,14702039,12853948,12819209,12665801,12507503,12506198,12477932,12438239,12364343,20146355,18951085,11076968,12221128,12433946,12852856,15116094,15696159,16462731,16511560,16511572,17720156,19172738,19558434,19801645,20381070,20508983,7790358,20388496,20936779 7532 NM_012479,AC005522,AC006388,CH471220,AB024334,AF142498,AK024230,AK293505,AK295029,BC020963,BI495132,CR541904,CR541925,CR598331,DC343104 NP_036611,EAW71804,BAA85184,AAD48408,BAG51276,BAG56989,BAG58085,AAH20963,CAG46702,CAG46723,P61981 Hs.727483 14-3-3GAMMA 14-3-3 gamma|14-3-3 protein gamma|KCIP-1|protein kinase C inhibitor protein 1 protein-coding 737555 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat has been associated with early-onset schizophrenia. [provided by RefSeq] 1331525,1580863 14676191,12919677,12871946,12730237,12665801,12595070,12507503,12480176,12477932,12438239,12177059,12176995,12176984,12042314,11996670,11969417,11953308,11886850,11864996,11533041,11531413,11352901,11266503,11121172,10713667,10591208,10441394,10330186,10206237,9799109,9738002,9705322,9524113,9428519,9369453,9299557,9278512,9110174,8812417,8702721,8668348,8619474,8617504,8561965,8515476,8218406,7690594,7615088,7499362,2902623,1578511,16968670,15708996,15142377,15265780,10620507,15696159,20562859,20936779,17255105,9079630,15790729,19160447,19034380,18950845,17611984,16581770,16545136,16459651,16045749,15580267,15489334,15461802,15324660,15023544,14743216,14690447,12433946,15116094,16096643,16511560,16775625,16868027,16902409,17979178,19172738,19558434,19615732,20224040,9197417,20388496 1331525 7533 CH471095,D78577,X80536,Z82248,AK312650,AY007132,BC003047,NM_003405,CR456612,CR593026,CR593097,CR593529,CR596240,CR596702,CR600337,CR600694,CR600773,CR601517,CR602331,CR603635,CR605523,CR606891,CR607325,CR607383,CR608665,CR611605,CR611926,CR614044,CR614377,CR614662,CR615723,CR616670,CR617151,CR617238,CR618712,CR618980,CR619423,CR621211,CR622695,CR622989,CR624998,CR625039,L08439,L20422,S80794,X57345,X78138 NP_003396,EAW60001,EAW60002,EAW60003,BAA11418,CAA56676,CAB05112,CAM26628,CAM26629,BAG35533,AAG01995,AAH03047,CAG30498,AAA35483,AAB36036,CAA40620,CAA55017,Q04917,Q9H4N8,CAK54639,CAK54938 Hs.226755 YWHA1 14-3-3 eta|14-3-3 protein eta protein-coding 734393 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq] 1580863 20110348,10954706,12433946,12513910,14675149,16511560,16775625,16868027,16888623,16943424,16956611,17215244,17620599,19010391,19139046,19172738,19173300,19416966,19429675,19558434,19592491,19801645,19933840,19935702,19996285,20069457,20086099,20308060,9197417,9543386,18779327,18550856,18626620,18249187,18215133,18089831,17973628,17913709,17617058,17389761,17369524,17190946,16713569,16679322,16581770,16516142,16381901,16368544,16367866,16215457,16176975,16045749,15930726,15902271,15883043,15489336,15489334,15324660,15231748,15196694,15159416,15023544,14743216,12919677,12853467,12665801,12535517,12501243,12477932,12438239,11984006,15163635,18029348,18952052,18950845,18794547,20451386,20679480,12426317,12177059,12176984,12042314,11864996,11433030,11080204,11076863,11024037,10862767,10835362,10785390,10713667,10664457,10611249,10441394,10092600,10066823,9369453,9360956,9110174,9058808,8929531,8668348,8663231,8619474,8515476,7603573,7479742,2015305,15708996,15265780,17353931,10757792,10620507,9524113,12911633,10831594,11266503,12816952,14970201,14597563,15454081,15367659,15694340,20388496,20936779 10971 NM_006826,AC073195,AC082651,CH471053,CS185527,AF070556,AK297624,AK302208,AK309462,AK316158,BC001197,BC050601,BC056867,BC093019,BT020014,CR590208,CR590303,CR591592,CR594792,CR600718,CR603466,CR607940,CR613794,CR614998,CR615240,CR616469,CR616856,CR617682,CR620125,CR621014,CR624722,X56468,X57347 NP_006817,AAX93143,AAY24326,EAX00977,EAX00978,EAX00979,CAJ42708,AAC28640,BAG60000,BAG63566,BAH14529,AAH50601,AAH56867,AAH93019,AAV38817,CAA39840,CAA40622,P27348,Q53RR5,Q53S41,CAL38208,CAL38216,CAL38236,CAL38550 Hs.74405 14-3-3|1C5|HS1 14-3-3 protein T-cell|14-3-3 protein tau|14-3-3 protein theta|OTTHUMP00000165887|protein tau protein-coding 1353658 YWHAQP tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta pseudogene 319121 NG_002502,AL356800 YWHAQP|YWHAQP1 pseudo 1348668 YWHAQP2 YWHAQ pseudogene 2 11080204 246716 NG_001580,Z82201 pseudo 3378365 YWHAQP3 YWHAQ pseudogene 3 100128944 AADB02015111,ABBA01008444,AC121758 pseudo 2902539 YWHAQP4 YWHAQ pseudogene 4 19906423 646954 AADB02007873,ABBA01070277,AC112247 pseudo 3051037 YWHAQP5 YWHAQ pseudogene 5 100130391 AADB02002036,AC064860 pseudo 4109591 YWHAQP6 YWHAQ pseudogene 6 100499253 AC092977,NG_023433 pseudo 3457459 YWHAQP8 YWHAQ pseudogene 8 392510 NG_005333,Z70280,DQ145510 Hs.558883 pseudo 736756 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq] 1625714 16114898,16130169,19401330,19371722,19218246,19198587,19184136,19173300,19138662,19062179,19034380,18951430,18618111,18573912,18559254,18472156,18319590,18290843,18162532,18078716,17918986,17764575,17719568,17704798,17317006,17081983,17081065,16679322,16581770,16516142,16413928,16368544,16341674,16306228,16246723,16223362,16169070,16123035,16045749,15721295,15660133,15616007,15489334,15389569,15364926,15363479,15347690,15324660,15234461,15229649,15225635,15159416,15146197,15073173,15054037,15037601,15036595,8034572,7939633,7939632,7628630,7603574,7547034,7536343,1577711,16968670,15265780,15142377,11531413,15708996,10620507,9261098,8702721,10835362,11984006,10358015,12893243,17353931,11504882,15163635,15629715,8024705,11533041,7559537,10644344,18039662,20471030,7890696,14970201,14743216,14690436,14676191,12963375,12919677,12861023,12853467,12819209,12764136,12757707,12665801,12615066,12589811,12477932,12468542,12438239,12364343,12361576,12323073,12215538,12176995,12176984,11985497,11956222,11950841,11917136,11912208,11912194,11563969,11486037,11427721,11410287,11359875,11336675,11331285,11287646,11257119,11237865,11178869,11124266,10887173,10864927,10840038,10785390,10713667,10642536,10627461,10611249,10559254,10488331,10477722,10455159,10441394,10411906,10407019,10224112,10102273,10026197,9705322,9620776,9581554,9524113,9512661,9454760,9452471,9428519,9425086,9398266,9367879,9360956,9312143,9299557,9197417,9153224,9144171,8668348,8631758,8617504,8278375,8101440,8037685,15028637,20936779,12433946,15023544,15032605,15161933,15324659,15696159,16376338,16420525,16511560,16868027,17043677,17292828,17643375,17720156,19172738,19525224,19647741,19662078,19732720,19860830,19875727,20224040,20308060,20379614,20381070,20384366,9115393,9858547,20388496 1625714 7534 BC108281,BC111951,BM783874,BQ605329,CN276619,CN276627,CR606956,CR607781,CR608094,CR611466,CR612878,CR614741,CR623456,CR623658,CR624253,CR625952,CR996247,DB472116,DC298291,DQ185048,M86400,S79449,U28964,NM_001135699,NM_145690,NM_001135701,NM_001135700,NM_001135702,AC018781,AC027373,CH471060,AA830489,AK289945,AK294647,AK296902,AK307506,AK315867,BC003623,BC013265,BC051814,BC063824,BC068456,BC070389,BC072426,BC073141,BC083508,BC099904,BC101483,NM_003406,EF094937 AAI08282,AAI11952,ABD14427,AAA36446,AAD14300,AAC52052,P63104,Q2F831,Q6LD62,AAI01484,ABM82632,ABM85810,NP_003397,NP_001129171,NP_663723,NP_001129173,NP_001129172,NP_001129174,EAW91823,EAW91824,EAW91825,EAW91826,EAW91827,EAW91828,EAW91829,BAF82634,BAH11832,BAH12451,BAF98758,AAH03623,AAH51814,AAH63824,AAH68456,AAH72426,AAH73141,AAH83508,AAH99904,ABO15003 Hs.492407,Hs.594673 14-3-3-zeta|KCIP-1|MGC111427|MGC126532|MGC138156|YWHAD 14-3-3 delta|14-3-3 protein zeta/delta|14-3-3 protein/cytosolic phospholipase A2|14-3-3 zeta|OTTHUMP00000165851|OTTHUMP00000165857|phospholipase A2|protein kinase C inhibitor protein 1|protein kinase C inhibitor protein-1|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide|tyrosine 3/tryptophan 5 -monooxygenase activation protein, zeta polypeptide protein-coding 1346698 YWHAZP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1 319120 NG_002501,AL355888 YWHAZP tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene pseudo 1342734 YWHAZP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2 399497 1354163 YWHAZP3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3 143371 NG_001545,AL139281 pseudo 1604196 YWHAZP4 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 4 246737 NG_001587,AL109939 pseudo 1626537 YWHAZP5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 5 86123 NG_001531,AL591363 pseudo 4144257 YWHAZP6 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 6 158383 AL355377,NG_001561 pseudo 4144422 YWHAZP7 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 7 100130640 AADB02036485,ABBA01066916,AL356265 pseudo 4144301 YWHAZP8 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 8 646016 AC004074,NG_022672 pseudo 4144424 YWHAZP9 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 9 441609 AP000790,NG_005491 pseudo 736235 YY1 YY1 transcription factor YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq] 1580831,1580832,628455,1580863 20663886,20666933,16878156,16922677,18940814,19013255,20211142,21048031,20233728,20431063,9857059,16822951,18632988,18634613,19454010,20686494,21057508,20519390,9016636,1946405,15084399,12913000,12808092,12805085,12788099,12754214,12588874,12571248,12483538,12477932,12411495,12393438,11940654,11777930,11532945,11486036,11448987,11287625,11158321,10888618,10866666,10452940,10369680,10224053,9685495,9642075,9493912,9371597,1655281,18029348,19235591,19164126,19129193,19034670,18950698,18753137,18558095,18542060,18488713,18485096,18480431,18424742,18423564,18391986,18389627,18339860,17990281,17980704,17973241,17973082,17925399,17721549,17556661,17549406,17434929,17353273,17192956,16963455,16954376,16918502,16769183,16565220,16314465,16260628,16170350,16143308,15955096,15942652,15870067,15831475,15805285,15782117,15586248,15489334,15302935,15295102,15291746,15210108,15153544,9346952,9278494,8942976,8289393,8268924,8266081,7912122,7758944,7541038,12920132,8327494,8917507,7769693,14610174,20215434,19297611,19360355,19483472,19553391,19566924,19575798,19685047,19712462,19720140,19793915,19879840,20081364,20081375,20105288,20237276,20430007,20025767,20504995,17218270,19139378,19279113,20805357,19913121,20660740 1580831,1580832,628455 7528 NM_003403,AF047455,AL157871,CH471061,AF147416,AK025731,AK026497,BC014138,BC020324,BC037308,BC065366,CR592603,CR611552,M76541,M77698,Z14077 NP_003394,EAW81689,EAW81690,AAH37308,AAH65366,AAA59926,AAA59467,CAA78455,P25490,ABM82564,ABW03401 Hs.388927 DELTA|INO80S|NF-E1|UCRBP|YIN-YANG-1 INO80 complex subunit S|YY-1|Yin and Yang 1 protein|delta transcription factor|transcriptional repressor protein YY1 protein-coding 1605369 YY1AP1 YY1 associated protein 1 The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] 11076863,9373149,8125298,20936779,16713569,18029348,17541814,16710414,16381901,16189514,15489336,15489334,15302935,14744866,14702039,12477932,12118372,11856496,11710830,11230166 55249 BG325066,DC300265,DC346197,DC388975,DC399389,DC406177,NM_001198899,NM_001198900,NM_001198901,NM_001198902,NM_001198903,NM_001198904,NM_001198905,NM_001198906,NM_018253,NM_139121,NM_139118,AL162734,BX088689,CH471121,AF203474,AF206328,AF466401,AK001737,AK023976,AK125590,AK225883,AK297562,AK298904,AK303046,AK303386,AK303944,AK309701,AK315049,AY604179,BC001655,BC001843,BC003500,BC008766,BC009358,BC014906,BC025272,BC044887,CR622167,CR749789,NM_139119 NP_001185828,NP_001185829,NP_001185830,NP_001185831,NP_001185832,NP_001185833,NP_001185834,NP_001185835,NP_060723,NP_620832,NP_620830,NP_620829,CAH71642,CAH71643,CAH71644,CAH71645,CAH71646,CAM45731,CAM45732,CAQ09423,CAH73350,CAH73351,CAH73352,CAH73353,CAH73354,EAW53052,EAW53053,EAW53054,EAW53055,EAW53056,EAW53057,EAW53058,EAW53059,EAW53060,AAO13249,AAL74055,AAL75971,BAA91871,BAB14748,BAG59954,BAG61012,BAG64166,BAG64442,BAG64872,AAT34990,AAH01655,AAH01843,AAH08766,AAH09358,AAH14906,AAH44887,CAH18650,Q5VYZ1,Q68CT8,Q9H869,CAL38222,CAL38727,CAQ07661,CAQ09422 Hs.584927 FLJ10875|FLJ13914|HCCA1|HCCA2|YAP|YY1AP OTTHUMP00000033475|OTTHUMP00000033476|OTTHUMP00000200831|OTTHUMP00000200832|OTTHUMP00000200833|OTTHUMP00000200836|YY1-associated protein 1|hepatocellular carcinoma susceptibility protein|hepatocellular carcinoma-associated protein 2 protein-coding 1354472 YY2 YY2 transcription factor 737633 19026728,16344560,16260628,15087442,14702039,12477932,16377127,17478514,19710015,20215434,18029348 737633 404281 NM_206923,CH471074,U73479,AK091850,AY567472,BC137215,BC137217,DA961884,DB459498,DB029513,NG_021268 NP_996806,EAW98983,AAD08633,BAG52427,AAS68634,AAI37216,AAI37218,O15391 Hs.443490,Hs.673601 ZNF631 transcription factor YY2|transcription factor yin yang 2|yin and yang 2|zinc finger protein 631 protein-coding 1604695 ZACN zinc activated ligand-gated ion channel LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM] 12381728,16083862,16344560,12477932,15286800 353174 NM_180990,AC018665,CH471099,AB223030,AF512521,AK122638,BC110596,BC110597,DB119720 NP_851321,EAW89365,EAW89366,BAE19924,AAO20969,AAI10598,Q401N2 Hs.714919 L2|LGICZ|LGICZ1|MGC129841|ZAC|ZAC1 ligand-gated ion channel subunit|ligand-gated ion channel zinc-activated 1|ligand-gated ion channel, zinc activated 1|ligand-gated ion-channel receptor L2|zinc activated ligand-gated ion channel 1|zinc-activated ligand-gated ion channel protein-coding 1320648 ZADH2 zinc binding alcohol dehydrogenase domain containing 2 737633,1580863 19690890,15489334,12477932,20877624,17207965 737633 284273 NM_175907,AC025105,CH471117,AK292880,BC010734,BC018081,BC033780,BC064618,BC075853,BC078661,BX647730,CR610486,HH961818 NP_787103,EAW66569,BAF85569,AAH18081,AAH33780,AAH78661,Q4G1C4,Q8N4Q0,CBX51382,ADQ31749 Hs.465433 MGC45594 zinc-binding alcohol dehydrogenase domain-containing protein 2 protein-coding 1601997 ZAK sterile alpha motif and leucine zipper containing kinase AZK This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 2293875 20331627,11836244,10924358,15342622,18331592,17192257,16964243,16344560,16189514,15815621,15737997,15684425,15489334,15485649,15465036,15324660,15172994,14702039,12761180,12535642,12477932,12220515,11549352,11042189,15778465,18029348,20379614,20408143 2293875 51776 AF325454,AF465843,AF480461,AF480462,AI799498,AK056310,AK095825,AK096877,AK291825,AK298634,AL833180,BC001401,BF055268,CB955745,CR598198,CR606268,DA993056,NM_016653,NM_133646,AC013461,AC019046,AC092573,CH471058,CQ834626,AA258354,AB030034,AB049733,AB049734,AB208974,AF238255,AF251441,AB041883 AAF65822,AAK11615,AAO33376,AAL85891,AAL85892,BAG51674,BAF84514,BAG60809,AAH01401,Q9NYL2,NP_057737,NP_598407,AAX93067,AAX82002,EAX11164,EAX11165,EAX11166,CAH05528,BAB12040,BAB16444,BAB16445,BAD92211,AAF63490,BAJ05400 Hs.444451 AZK|MLK7|MLT|MLTK|MRK|mlklak|pk HCCS-4|MLK-like mitogen-activated protein triple kinase|MLK-related kinase|OTTHUMP00000205097|cervical cancer suppressor gene 4 protein|human cervical cancer suppressor gene 4 protein|leucine zipper- and sterile alpha motif-containing kinase|mitogen-activated protein kinase kinase kinase MLT|mixed lineage kinase 7|mixed lineage kinase with a leucine zipper and a sterile alpha motif|mixed lineage kinase-related kinase MRK-beta|protein kinase|sterile alpha motif- and leucine zipper-containing kinase AZK protein-coding 1312837 ZAN zonadhesin This gene encodes a sperm membrane protein that binds the zona pellucida of the egg in a species-specific manner. The encoded protein may be involved in signaling or gamete recognition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 19724880,19862010,9126492,17033959,14759258,11239002,9799793,19913121,20628086 7455 AF332977,AF332978,AF332979,AF332980,AK302596,U83191,NM_003386,AC009488,AC011895,AF053356,AF312032,AY046055,CH471091,AF332975,AF332976,NM_173059 AAK01433,AAK01434,AAK01435,AAK01436,BAG63848,AAC51208,Q9Y493,NP_775082,NP_003377,AAC78790,AAK21011,AAL04410,AAL04411,AAL04412,AAL04413,AAL04414,AAL04415,EAW76487,EAW76488,EAW76489,EAW76490,EAW76491,EAW76492,AAK01431,AAK01432 Hs.307004 OTTHUMP00000211358|OTTHUMP00000211359|OTTHUMP00000211360|OTTHUMP00000211361|OTTHUMP00000211362|OTTHUMP00000211363|zonadhesin protein-coding 1349191 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq] 1580863,1599880 7629168,9269777,7522245,18453590,7539035,12186560,8798643,7761456,10078535,9846481,15735648,20132303,20488542,20575031,17192257,17051526,17038529,16932341,16823829,16642047,16538501,16467082,16418492,16412387,16406604,16339550,16300468,16291755,16263570,16219325,16096284,16094384,16079107,16079094,15996927,15972449,15923611,15861514,15856008,15800671,15759031,15699074,15592455,15514014,15489334,15370248,15358536,15292186,15190462,15144186,15143214,15133473,15100278,15059847,14985102,14766232,14672952,14560012,14557276,12847255,12817019,12778467,12648457,12595313,12522270,12504004,12477932,12450381,12447358,12393534,12387734,12165490,12154360,12084069,12051764,11976341,11964272,11855827,11781312,11572860,11412303,11390470,11368773,11279207,11133830,10979964,10966114,10867021,10790433,10660534,10458769,10449770,10419455,10318843,10221598,10209036,10074432,10037717,9698567,9685404,9490415,9464824,9403695,9378960,9362531,9169414,9047237,8943371,8761298,8756661,8702662,8638162,8530437,8366117,8202713,8202712,8082894,7961936,7819147,7798261,7760813,7737297,15588985,1423621,7528772,11891219,12359715,12646565,7630421,8176201,11048639,17652306,18029348,19298946,19230824,19136305,19050243,19021053,19018007,18854088,18818202,18770856,18770822,18757853,18689273,18687687,18577710,18519230,18424730,18333847,18322442,18311544,18203013,18190465,18048647,18025306,18022252,17948236,17931624,17926183,17785822,17767948,17702857,17577788,17534928,17512407,17492476,17375875,17222799,17215865,20228263,15688026,16461343,18616755,19267204,19297020,19377082,19679010,19727816,19826250,19907441,19944462,20001236,20029467,20056178,20164537,8613493,20534575,20014315,18683785,19920178 1599880 7535 NM_001079,NM_207519,NG_007727,AC016699,AC017099,CH471127,AB083211,AK303341,AK310628,AK310637,AL832287,BC039039,BC053878,L05148 NP_001070,NP_997402,AAX93187,EAX01918,EAX01919,BAC43747,BAG64404,AAH39039,AAH53878,P43403 Hs.234569 FLJ17670|FLJ17679|SRK|STD|TZK|ZAP-70 70 kDa zeta-associated protein|syk-related tyrosine kinase|tyrosine-protein kinase ZAP-70|zeta-chain associated protein kinase, 70kD protein-coding 1351487 ZAR1 zygote arrest 1 The female gamete, the oocyte, serves the distinct purpose of transmitting the maternal genome and other maternal factors critical for postovulation events. Oocytes have diverse functions in ovarian folliculogenesis, fertilization, and embryogenesis. ZAR1 is an oocyte-specific gene that appears to function at the oocyte-to-gamete transition (Wu et al., 2003 [PubMed 12539046]).[supplied by OMIM] 1580863 16551357,12773403,12539046,20654783,12477932 326340 NM_175619,AC096952,AY193890,CH471069,AY191416,BC136265 NP_783318,AAO24709,EAW93062,AAO24707,AAI36266,Q86SH2 Hs.276457 oocyte-specific maternal effect factor|zygote arrest protein 1 protein-coding 2311474 ZAR1L zygote arrest 1-like 18442940,15057823,12477932,19913121,20628086,20202217 646799 NM_001136571,AL445212,BC146956,BC146965,NG_017006,HC044869 NP_001130043,CAX14964,AAI46957,AAI46966,A6NP61,CBH30764 Hs.569254 RP11-37E23.4|ZAR2 ZAR1-like protein protein-coding 1602864 ZBBX zinc finger, B-box domain containing 8889548,16344560,14702039,12477932 79740 DA590037,DB078376,NM_001199201,NM_001199202,NM_024687,AC107311,AC117463,CH471052,AK026702,AK093296,BC034229,BC144444,CB321707 NP_001186130,NP_001186131,NP_078963,EAW78589,BAB15532,BAG52683,AAI44445,A8MT70 Hs.478143 FLJ23049 OTTHUMP00000164910|OTTHUMP00000164931|OTTHUMP00000164932|hypothetical protein flj23049|zinc finger B-box domain-containing protein 1 protein-coding 1348579 ZBED1 zinc finger, BED-type containing 1 9887332,17220279,17209048,16713569,16189514,15489334,12663651,12477932,9872452,8889548,16344560,19447967 9189 NM_004729,AC079176,CH471074,Y17156,AB018328,BC015030,BM980254,CR597100,Y16947,DA625185,NG_016364,NM_001171135,NM_001171136 NP_004720,EAW98691,EAW98692,CAA76660,BAA34505,AAH15030,CAA76545,O96006,ABM84566,ABM86530,NP_001164606,NP_001164607 Hs.131452 ALTE|DREF|KIAA0785|TRAMP|hDREF Ac-like transposable element|BED-type zinc finger domain-containing protein 1|DNA replication-related element binding factor|OTTHUMP00000214863|dREF homolog|putative Ac-like transposable element|putative Ac-like transposon|zinc finger BED domain-containing protein 1|zinc finger, bed domain containing 1 protein-coding 1348309 ZBED2 zinc finger, BED-type containing 2 1580863 16341674,15489334,12477932 79413 NM_024508,AC055748,CH471052,BC003536,BC071956,BE740032,BM847001,D78844 NP_078784,EAW79699,EAW79700,AAH03536,AAH71956,Q9BTP6 Hs.136912 MGC10796 zinc finger BED domain-containing protein 2|zinc finger, BED domain containing 2|zinc finger, bed domain containing 2 protein-coding 1320128 ZBED3 zinc finger, BED-type containing 3 1580863 19141611,15489334,12477932,9373149,8125298,20581827,20889853 84327 NM_032367,AC008581,CH471084,AK223624,BC007239 NP_115743,EAW95790,EAW95791,BAD97344,AAH07239,Q53EL5,Q96IU2 Hs.584988 MGC15435 2610005H11Rik|OTTHUMP00000222091|zinc finger BED domain-containing protein 3|zinc finger, BED domain containing 3 protein-coding 1314283 ZBED4 zinc finger, BED-type containing 4 1580863 17209048,15461802,12477932,10591208,9734811,19369242,19693800 9889 NM_014838,AL117328,CH471138,AA809789,AB014537,BC117670,BC117671,BC167155,CR456387,CR592522,DB457646 NP_055653,CAB62924,EAW73479,BAA31612,AAI17671,AAI67155,CAG30273,O75132,CAK54377,CAK54676 Hs.475208 zinc finger BED domain-containing protein 4|zinc finger, BED domain containing 4|zinc finger, bed domain containing 4 protein-coding 1603615 ZBED5 zinc finger, BED-type containing 5 This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq] 20379614,16344560,15231748,14702039,12477932,10607616,20877624 58486 NM_021211,NM_001143667,AC069360,AF205601,CH471064,AF205600,AK022942,AK025407,AK025829,AK123233,AK315033,AL137577,BC017803,BC038508,BC047754,BQ028130,DA059122,DA785416,DB100756 NP_067034,NP_001137139,AAF18455,EAW68550,AAF18454,BAG51140,BAG37518,CAB70820,AAH17803,AAH47754,Q49AG3 Hs.655066 Buster1|FLJ41239 transposon-derived Buster1 transposase-like protein|zinc finger BED domain-containing protein 5 protein-coding 3322020 ZBED6 zinc finger, BED-type containing 6 16710414,20016685,20134481,20375320 100381270 NM_001174108 NP_001167579,P86452 Hs.716666 zinc finger BED domain-containing protein 6|zinc finger, BED domain containing 6 protein-coding 1351033 ZBP1 Z-DNA binding protein 1 DLM1 encodes a Z-DNA binding protein. Z-DNA formation is a dynamic process, largely controlled by the amount of supercoiling.[supplied by OMIM] 632620,1580863 12477932,11780052,11524677,10364558,11842111,19095800,18941233,18771559,16448869,16344560,15489334,14702039,19461076,19668339,19846511,20237496 632620 81030 NM_030776,NM_001160417,NM_001160418,NM_001160419,AL035541,CH471077,AJ300575,AK122761,AK128405,AK290918,AK314062,BC028218,BC131706,BF511589,CT002036,DA674238,DA676308,DB331848 NP_110403,NP_001153889,NP_001153890,NP_001153891,CAI23107,EAW75509,EAW75510,EAW75511,EAW75512,EAW75513,CAC18810,BAG53713,BAF83607,AAH28218,AAI31707,Q9H171 Hs.302123 C20orf183|DAI|DLM-1|DLM1 DNA-dependent activator of IRFs|DNA-dependent activator of interferon regulatory factors|Z-DNA-binding protein 1|tumor stroma and activated macrophage protein DLM-1 protein-coding 1343689 ZBTB1 zinc finger and BTB domain containing 1 1580863 15489334,15334068,15146197,12477932,10231032,8889548 22890 NM_014950,NM_001123329,AL049869,CH471061,AB023214,AK291743,AW965994,AY598321,BC050719,BM975910,BX248777,BX537646,CN362091 NP_055765,NP_001116801,EAW80863,BAA76841,BAF84432,AAT06732,AAH50719,CAD66584,Q5UW39,Q9Y2K1,ABZ92308 Hs.605143 KIAA0997|ZNF909 zinc finger and BTB domain-containing protein 1 protein-coding 1348951 ZBTB10 zinc finger and BTB domain containing 10 737633 20382698,15489334,14702039,12477932,18029348 737633 65986 NM_001105539,NM_023929,AC009812,AJ507398,CH471068,AJ319673,AK022814,AK056913,BC050061,BC127097,BC127098,BC148254,CA865977 NP_001099009,NP_076418,CAD45447,EAW87075,EAW87076,EAW87077,EAW87078,EAW87079,CAC40989,BAB14256,BAB71309,AAH50061,AAI27099,AAI48255,Q96DT7,Q9H9H3 Hs.591868 FLJ12752|RINZF OTTHUMP00000207119|zinc finger and BTB domain-containing protein 10|zinc finger protein RIN ZF|zinc finger protein RINZF protein-coding 1317955 ZBTB11 zinc finger and BTB domain containing 11 1580863 18029348,16344560,15231748,14702039,12477932 27107 NM_014415,AC084198,CH471052,AB208862,AI636025,AK023488,AK312859,BC028062,BC029342,BC111700,DA907277,U69274 NP_055230,EAW79786,BAD92099,BAG51200,BAG35711,AAI11701,AAD00172,O95625,Q59H97 Hs.655286 FLJ13426|MGC133303|ZNF-U69274|ZNF913 zinc finger and BTB domain-containing protein 11 protein-coding 1342499 ZBTB12 zinc finger and BTB domain containing 12 1300397,1580863 15489334,14656967,14574404,12477932,9545376,8939933 1300397 221527 NM_181842,AF134726,AL662834,AL671762,AL844853,BA000025,CH471081,CR388219,CR759784,BC043609 NP_862825,AAD21810,CAI17750,CAI18229,CAI41855,BAB63293,EAX03545,EAX03546,EAX03547,CAQ07475,CAQ09313,AAH43609,Q9Y330 Hs.234027 Bat9|C6orf46|D6S59E|G10|NG35 HLA-B-associated transcript 9|zinc finger and BTB domain-containing protein 12 protein-coding 4109588 ZBTB12B zinc finger and BTB domain containing 12B 9847074 100499252 AC105287 ZNF920 zinc finger and BTB domain containing 12B protein-coding 1352454 ZBTB16 zinc finger and BTB domain containing 16 This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq] 1599922,1580863 9531570,8384553,9256429,8889548,8387545,9765306,9486654,19648967,19723763,19796243,19855079,20010871,20038602,20098615,20379614,12590135,12477932,12460926,12408802,12242665,12145280,12004059,11964310,11929873,11920278,11719366,11175338,11161217,11106752,11090081,10791968,10688654,10572087,10537309,10500192,10497277,10433962,9770450,9627120,9294197,8622986,12802276,8541544,18029348,19451220,19444914,19421145,18846501,18771349,18703361,18611983,18568019,18448589,18417445,18348865,18262754,18000064,17881917,17537403,17515885,17340613,17118363,17082479,16828757,16676348,16637071,16189514,16169070,15968309,15964811,15949438,15623533,15489334,15467736,15231748,15219838,15196694,15077196,15065091,14982881,14702039,14657020,14645547,14597771,14527952,14521715,12970399,12821938,20945532,19913121,20628086 1599922 7704 NM_006006,NM_001018011,NG_012140,AF060568,AF076613,AF076615,AF076616,AP000908,AP002518,AP002755,CH471065,S60093,AB208916,AK126422,BC026902,BC029812,BM969145,BX648973,Z19002 NP_005997,NP_001018011,AAD03619,AAC32847,AAC32848,AAC32849,EAW67241,EAW67242,AAC60590,BAD92153,AAH26902,AAH29812,CAA79489,Q05516,Q59H43,Q71UL5,Q71UL6,Q71UL7,ABZ92254 Hs.591945,Hs.682144 PLZF|ZNF145 zinc finger and BTB domain-containing protein 16|zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)|zinc finger protein PLZF protein-coding 1347626 ZBTB17 zinc finger and BTB domain containing 17 This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq] 1580863 9308237,12244100,19164764,17947461,17880999,17418410,16710414,16537485,16352593,16344560,16167342,15752756,15616584,15489334,14739298,12840021,12545156,12477932,12408820,11545736,11283613,11068878,9373149,9312026,9256341,8125298,7557990,1946370,1505991,15231747,17050536,12193603,15856024,11117529,12904288,15095404,17006541,19815509,19901969,17082179,20697356 7709 NM_003443,AL034555,AL355994,CH471167,M88369,AK223618,AK226168,AK294796,AK299820,AK301896,AK302610,AK303823,AK311083,AK315201,BC126163,BC143965,BC143968,BQ575263,DB064089,U20647,Y09723,AK309081 NP_003434,CAB85445,CAI19524,CAI19525,EAW51757,EAW51758,AAA61327,BAD97338,BAG57917,BAG61689,BAG63326,BAG63857,BAG64771,BAG37639,AAI26164,AAI43966,AAC50256,CAA70889,Q13105,Q53EM1 Hs.433764 MIZ-1|ZNF151|ZNF60|pHZ-67 Myc-interacting Zn finger protein-1|myc-interacting zinc finger protein 1|zinc finger and BTB domain-containing protein 17|zinc finger protein 151 (pHZ-67)|zinc finger protein 60 protein-coding 1315344 ZBTB2 zinc finger and BTB domain containing 2 1580863 16051665,15489334,14702039,14574404,12477932,10819331,19380588,19615732 57621 NM_020861,AL590413,CH471051,AB040916,AJ420526,AK092886,AK291942,AL832957,BC020172 NP_065912,CAI13589,EAW47751,EAW47752,BAA96007,BAF84631,CAH56321,AAH20172,Q658W5,Q8N680,ABZ92365 Hs.520073 ZNF437 zinc finger and BTB domain-containing protein 2 protein-coding 1351632 ZBTB20 zinc finger and BTB domain containing 20 1580863 19913121,20628086,18029348,19240061,16381901,16344560,15489336,12477932,11352661,11230166,11076863,10965110,10737800,9373149,8125298,19850283,20379614 26137 NM_015642,AC055739,AC069063,AC069506,AC078986,AC083886,AC092915,AC131152,AC138977,CH471052,AF139460,AK129968,AK225788,AK290116,AK315307,AL050276,BC010934,BC015587,BC029041,BC090936,BF327758,BG993862,BX647778,BX648237,DB131355,DB268190,NM_001164342,NM_001164343,NM_001164344,NM_001164345,NM_001164346,NM_001164347 NP_056457,EAW79598,AAG28340,BAF82805,BAG37711,CAB43377,AAH29041,CAH56190,Q9HC78,CAL37476,ABZ92319,NP_001157814,NP_001157815,NP_001157816,NP_001157817,NP_001157818,NP_001157819 Hs.655108 DKFZp566F123|DPZF|FLJ26458|HOF|ODA-8S|ZNF288 BTB/POZ zinc finger protein DPZF|OTTHUMP00000215066|OTTHUMP00000215067|OTTHUMP00000215069|OTTHUMP00000215071|dendritic cell-derived BTB/POZ zinc finger|dendritic-derived BTB/POZ zinc finger protein|zinc finger and BTB domain-containing protein 20|zinc finger protein 288 protein-coding 1352119 ZBTB22 zinc finger and BTB domain containing 22 1580863 16189514,15489334,14702039,14574404,12477932,9521053,16169070,9545376,16344560,19851445 9278 BX459194,CD369813,DA625357,DA777388,NM_005453,AL662820,AL662827,BX248088,CH471081,CR759786,CR759817,Z97183,Z97184,AK095978,AK315747,BC018541,NM_001145338,BQ002626 O15209,CAQ08263,NP_001138810,NP_005444,CAI18123,CAI17526,CAI41787,EAX03721,CAQ08033,CAB09990,BAG53184,BAG38101,AAH18541 Hs.206770 BING1|ZBTB22A|ZNF297|ZNF297A|fru|fruitless OTTHUMP00000178695|zinc finger and BTB domain-containing protein 22|zinc finger and BTB domain-containing protein 22A|zinc finger protein 297 protein-coding 1315856 ZBTB24 zinc finger and BTB domain containing 24 1580863 19060904,18391951,16189514,15489334,14574404,12477932,12168954,9455477,17353931 9841 NM_014797,NM_001164313,AL109947,CH471051,AB007901,AK309697,BC036731,BC117374,BC117376,BC143843,BX648883 NP_055612,NP_001157785,CAI23346,EAW48338,BAA23713,AAH36731,AAI17375,AAI17377,O43167,ADR83233 Hs.409876 BIF1|PATZ2|ZNF450 Bax-interacting factor-1|POZ (BTB) and AT hook containing zinc finger 2|zinc finger and BTB domain-containing protein 24|zinc finger protein 450 protein-coding 1344853 ZBTB25 zinc finger and BTB domain containing 25 1580863 20410506,16189514,2027750,16713569,15489334,14702039,12477932 7597 NM_006977,AL049869,CH471061,AK098181,AK313889,BC035804,BM550005,X16576 NP_008908,EAW80859,EAW80860,EAW80861,BAG53588,AAH35804,CAA34595,P24278,ABZ92441 Hs.654571 C14orf51|KUP|ZNF46 OTTHUMP00000180663|zinc finger and BTB domain-containing protein 25|zinc finger protein 46|zinc finger protein KUP protein-coding 1318405 ZBTB26 zinc finger and BTB domain containing 26 1580863 15489334,14702039,12477932,10997877 57684 NM_020924,AC007066,CS300792,AB046792,AF323460,AK057445,AK058083,BC018748 NP_065975,CAK32456,BAB13398,AAL55969,BAG51915,AAH18748,Q9HCK0,ABZ92366 Hs.5638 KIAA1572|ZNF481|bioref zinc finger and BTB domain-containing protein 26|zinc finger protein 481|zinc finger protein 483|zinc finger protein Bioref protein-coding 1353634 ZBTB3 zinc finger and BTB domain containing 3 1580863 16344560,15489334,15231748,14702039,12477932 79842 NM_024784,AP001160,CH471076,AK027045,BC025249,DA770074 NP_079060,EAW74088,EAW74089,BAB15636,AAH25249,Q9H5J0,ABM83768,ABW03537 Hs.147554 FLJ23392 zinc finger and BTB domain-containing protein 3 protein-coding 1604369 ZBTB32 zinc finger and BTB domain containing 32 20493880,20211142,10572087,17171645,16713569,16189514,15489334,12821938,12477932,11986317,11964310,10544010,14499622,18082604,19447967,20147518 27033 NM_014383,AC002314,AD000671,AF130255,AF165097,BC017700 NP_055198,AAD27708,AAD48448,AAH17700,Q9Y2Y4 Hs.99430 FAXF|FAZF|Rog|TZFP|ZNF538 FANCC-interacting protein|OTTHUMP00000045790|fanconi anemia zinc finger protein|repressor of GATA|testis zinc finger protein|zinc finger and BTB domain-containing protein 32|zinc finger protein 538 protein-coding 1351169 ZBTB33 zinc finger and BTB domain containing 33 KAISO is a transcriptional regulator that binds, via its zinc fingers, to DNA sequences containing methylated CGCG or to the consensus KAISO-binding site (KBS) TCCTGCNA (Filion et al., 2006 [PubMed 16354688]).[supplied by OMIM] 10207085,18029348,19508730,18794111,18653469,16530985,16381901,16354688,16230345,15953356,15817151,15781635,15772651,15592455,15564377,15548582,15489336,15489334,14702039,14699141,14527417,12477932,11461664,11445535,11230166,11076863,15543138,19394292,21070476,20586187,19502788,19615732,19615783,20169156,20382170 10009 NM_006777,AC002086,CH471107,AK092998,AK094230,AK312321,AL833604,AL833856,BC042753,BX538016,BX538101,DB468333,NG_021334,NM_001184742 NP_006768,AAB54087,EAX11891,BAG35243,CAD91170,CAD38715,AAH42753,CAD97963,CAD98016,Q86T24,CAL38182,NP_001171671 Hs.143604 ZNF-kaiso|ZNF348 WUGSC:H_DJ525N14.1|kaiso transcription factor|transcriptional regulator Kaiso|zinc finger and BTB domain-containing protein 33 protein-coding 1353753 ZBTB34 zinc finger and BTB domain containing 34 16718364,14702039,12477932,12056414,18029348 403341 NM_001099270,AL160169,AL354944,AB082524,AK055661,AK074274,BC020929,BC035710,DQ227306 NP_001092740,CAH69994,BAC02702,ABA86591,Q8NCN2,AAI60177 Hs.177633 FLJ22470|KIAA1993|MGC24652|RP11-106H5.1|ZNF918 OTTHUMP00000022158|zinc finger and BTB domain-containing protein 34 protein-coding 1352612 ZBTB37 zinc finger and BTB domain containing 37 737633 12477932,19240061,16710414,16344560,15489334,14702039 737633 84614 NM_001122770,NM_032522,AL136170,CH471067,AK057310,AK302696,BC003116,BC006315,DA790498,DA796002,AF318371 NP_001116242,NP_115911,CAI19420,CAI19421,CAI19422,EAW90967,EAW90968,AAL55878,BAB71422,BAH13780,AAH03116,AAH06315,Q5TC79,Q8WYT0 Hs.668497 D430004I08Rik|MGC2629|ZNF908 OTTHUMP00000035389|zinc finger and BTB domain-containing protein 37 protein-coding 1603531 ZBTB38 zinc finger and BTB domain containing 38 20546612,20846217,20966902,19266077,18391952,18391951,18391950,18193045,17081983,16641997,16354688,16344560,14702039,12477932,18851979,18029348,19343178,19396169,19893584,20189936 253461 NM_001080412,AC010184,AC117383,CH471052,AA683353,AK025985,AK055693,AK092355,AK094201,AK302568,AK307452,AK311501,AL833148,BC008901,BC015444,BC022936,BC051734,BC072415,BC107745,CR596380,DA347543,DC420906,NG_021426 NP_001073881,EAW79004,EAW79005,BAB15309,BAB70986,BAC03868,BAG52843,BAG63830,AAI07746,Q32Q70,Q8NAP3,Q9H6F0,AAI72286 Hs.518301 CIBZ|FLJ22332|FLJ31131|FLJ35036|ZNF921 OTTHUMP00000217600|OTTHUMP00000217601|OTTHUMP00000217602|OTTHUMP00000217603|OTTHUMP00000217654|OTTHUMP00000217655|OTTHUMP00000217656|OTTHUMP00000217657|OTTHUMP00000217658|OTTHUMP00000217659|OTTHUMP00000217660|zinc finger and BTB domain-containing protein 38 protein-coding 1605102 ZBTB39 zinc finger and BTB domain containing 39 9205841,12477932 9880 NM_014830,AC026120,CH471054,AB002350,AK292468,BC146867,BC140890,BC152461 NP_055645,EAW96971,BAA20809,BAF85157,AAI40891,AAI46868,AAI52462,O15060 Hs.591025 KIAA0352|ZNF922 zinc finger and BTB domain-containing protein 39 protein-coding 1316223 ZBTB4 zinc finger and BTB domain containing 4 737633,1580863 18451802,16354688,16344560,14702039,12477932,10819331,19448668,20403812 737633 57659 NM_020899,NM_001128833,AC113189,CH471108,AB040971,AK027143,AK122826,AK122971,AY302699,BC015902,BC033259,BC043352,BC131774,DA125392 NP_065950,NP_001122305,EAW90185,BAA96062,BAG53746,BAG53828,AAP59447,AAH33259,AAH43352,AAI31775,Q9P1Z0 Hs.35096 KAISO-L1|KIAA1538|ZNF903 KAISO-like zinc finger protein 1|zinc finger and BTB domain-containing protein 4 protein-coding 1604838 ZBTB40 zinc finger and BTB domain containing 40 20554715,18445777,16710414,16344560,15302935,14702039,12477932,12168954,10737800,9455484,19801982,20379614 9923 NM_001083621,NM_014870,AL035703,AL358788,CH471134,AB007947,AK091019,AK095273,AK314747,BC114607,BF919358,DA248977,DA326727,DA787818 NP_001077090,NP_055685,CAI22040,CAI22041,EAW95011,EAW95012,BAA32323,BAG52264,BAC04518,BAG37287,AAI14608,Q1RMZ5,Q9NUA8 Hs.418966 KIAA0478|MGC133098|ZNF923 zinc finger and BTB domain-containing protein 40 protein-coding 1603485 ZBTB41 zinc finger and BTB domain containing 41 16710414,14702039,12477932,10737800 360023 NM_194314,AL356315,AL627208,CH471067,AK128549,AW856335,AY163816,AY336933,BC043426,BC132818,BC136600,BX640886 NP_919290,CAI13461,CAI14333,EAW91275,BAC87496,AAN71742,AAP97434,AAI32819,AAI36601,CAE45940,Q5SVQ8,Q8N9U5 Hs.529439 DKFZp686C06120|FLJ36199|FRBZ1|RP11-469L3.1|ZNF924 FRBZ1 protein (FRBZ1)|zinc finger and BTB domain-containing protein 41 protein-coding 2290506 ZBTB42 zinc finger and BTB domain containing 42 15489334,12477932,19913121,20628086 100128927 NM_001137601,AL590327,AK125003,AL138144,AX721091,BC157833,BC171822,CR602005 NP_001131073,AAI57834,AAI71822,B2RXF5 Hs.170853 FLJ43013|MGC189728|ZNF925 zinc finger and BTB domain-containing protein 42 protein-coding 1321100 ZBTB43 zinc finger and BTB domain containing 43 1580863 16542149,16344560,16189514,15489334,12477932,9455477,18029348,19847924 23099 NM_014007,NM_001135776,AL161731,CH471090,AB007874,AF049907,AK026123,BC008828,BT007194,DA500531,DA864775,AL354944 NP_054726,NP_001129248,CAI40919,CAI40920,EAW87643,BAA24844,AAC05500,AAH08828,AAP35858,O43298,Q5JU96,Q5JU97 Hs.355581 ZBTB22B|ZNF-X|ZNF297B OTTHUMP00000022156|OTTHUMP00000022157|zinc finger and BTB domain-containing protein 22B|zinc finger and BTB domain-containing protein 43|zinc finger protein 297B|zinc finger protein 297b protein-coding 1606019 ZBTB44 zinc finger and BTB domain containing 44 15489334,15231748,15146197,14702039,12477932,12107412,11042152 29068 AC019227,AP001183,CH471065,AF161548,AI446067,AK023933,AK024659,AK026770,AK096676,AK130071,AK314701,BC030580,BC040658,BC049375,BC050723,BC071729,CD671410,CN423489,CR615509,NM_014155 NP_054874,EAW67777,AAF29035,BAG37249,AAH30580,AAH49375,AAH50723,AAH71729,Q8NCP5,Q9NZX4,ABM81802,ABM84957 Hs.178499 BTBD15|HSPC063|MGC26123|MGC57431|MGC60348|MGC88058|ZNF851 BTB (POZ) domain containing 15|BTB/POZ domain-containing protein 15|zinc finger and BTB domain-containing protein 44|zinc finger protein 851 protein-coding 1322100 ZBTB45 zinc finger and BTB domain containing 45 1580863 16169070,15489334,14702039,12477932 84878 NM_032792,AC012313,CH471135,AK027392,AL831909,BC024738,CR613426 NP_116181,EAW72602,EAW72603,EAW72604,BAB55079,CAD38572,AAH24738,Q8NDR3,Q96K62,ABZ92075 Hs.515662 DKFZp547H249|FLJ14486|ZNF499 zinc finger and BTB domain-containing protein 45|zinc finger protein 499 protein-coding 1345627 ZBTB46 zinc finger and BTB domain containing 46 15489334,14702039,12477932,12136098,11780052 140685 NM_025224,AL121845,CH471077,AK023564,AK126720,AK131482,BC052269,BC073800 NP_079500,CAI21885,EAW75205,EAW75206,BAD18627,AAH52269,AAH73800,Q6ZMU8,Q86UZ6 Hs.585028 BTBD4|FLJ13502|RINZF|ZNF340|dJ583P15.7|dJ583P15.8 BTB (POZ) domain containing 4|BTB/POZ domain-containing protein 4|OTTHUMP00000031601|btb (poz) domain containing 4|zinc finger and BTB domain-containing protein 46|zinc finger protein 340 protein-coding 1343623 ZBTB47 zinc finger and BTB domain containing 47 737633 15489334,12477932,10574461,20116376 737633 92999 NM_145166,AC006059,CH471055,AB033016,AK127065,AL133062,BC021855,BF509106 NP_660149,EAW64662,BAA86504,BAC86810,CAB61386,AAH21855,Q6ZSY6,Q9UFB7 Hs.409561 DKFZp434N0615|KIAA1190|ZNF651 OTTHUMP00000209479|OTTHUMP00000221940|zinc finger and BTB domain-containing protein 47|zinc finger protein 651 protein-coding 1346774 ZBTB48 zinc finger and BTB domain containing 48 1580863 18029348,8661141,16189514,15489334,15342556,12477932,9516840,7969177,2850480 3104 AL591866,CH471130,M20677,U45324,U45325,AF318381,AK290156,AK312786,BC013573,NM_005341,BP281477,BX648395,L16896 NP_005332,CAI16077,CAI16078,CAI16079,EAW71555,EAW71556,EAW71557,AAA35989,AAB08973,AAB08974,AAL55888,BAF82845,BAG35649,AAH13573,AAA65124,P10074,Q5SY20,Q5SY21,Q6LCP1,Q8WYS1,ABM85099,ABM85100 Hs.502330 HKR3|ZNF855|pp9964 GLI-Kruppel family member HKR3|gli-kruppel family member hkr3|krueppel-related zinc finger protein 3|zinc finger and BTB domain-containing protein 48|zinc finger protein 855 protein-coding 1316525 ZBTB5 zinc finger and BTB domain containing 5 1580863 16189514,15489334,12477932,9205841,16169070,19491398 9925 AK292404,AW075599,BC010007,CR603598,CR626350,DB457364,NM_014872,AL158155,CH471071,AB002352 BAF85093,AAH10007,O15062,Q5T942,NP_055687,CAI13852,EAW58282,BAA20811 Hs.161276 zinc finger and BTB domain-containing protein 5 protein-coding 1314374 ZBTB6 zinc finger and BTB domain containing 6 1580863 7958847,15489334,15231748,12477932 10773 NM_006626,AC007066,CH471090,AK098650,AK292401,BC037282,CR607983,X82018 NP_006617,EAW87552,BAF85090,AAH37282,CAA57543,Q15916,ABZ92297 Hs.654596 ZID|ZNF482 zinc finger and BTB domain-containing protein 6|zinc finger protein 482|zinc finger protein with interaction domain protein-coding 1350408 ZBTB7A zinc finger and BTB domain containing 7A 17595526,17081983,15917220,15662416,15489334,15302935,14701838,12750370,12477932,12004059,11907272,9973611,9927193,8889548,15337766,18801742,18682402,18550205,18482847,18368381,18355317,20336405,17189472,20923760,19244234,19444642,19471103,20394500 51341 NM_015898,AC016586,CH471139,AF000561,AF097916,AL390151,BC019108,BC080608,BC084568,BC113511,BM696365,BQ082585,BQ711712,CB047382,CB242327 NP_056982,EAW69266,EAW69267,EAW69268,EAW69269,EAW69270,EAW69271,EAW69272,AAB58414,AAC72973,AAH19108,AAH84568,AAI13512,O95365,Q8TB76 Hs.591384 DKFZp547O146|FBI-1|FBI1|LRF|MGC99631|ZBTB7|ZNF857A|pokemon HIV-1 1st-binding protein 1|HIV-1 inducer of short transcripts binding protein|POK erythroid myeloid ontogenic factor|POZ and Krueppel erythroid myeloid ontogenic factor|TIP21|TTF-I-interacting peptide 21|factor binding IST protein 1|factor that binds to inducer of short transcripts protein 1|leukemia/lymphoma-related factor|lymphoma related factor|zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein|zinc finger and BTB domain-containing protein 7A|zinc finger and btb domain containing 7|zinc finger protein 857A protein-coding 1314302 ZBTB7B zinc finger and BTB domain containing 7B ZFP67 is an early growth response gene that encodes a zinc finger-containing transcription factor that binds to the promoter regions of type I collagen genes (e.g., COL1A1; MIM 120150) and has a role in development.[supplied by OMIM] 1580863 20211142,7937772,17698844,16710414,16189514,15489334,12477932,11691585,10856292,9421237,9370309,20810990,18029348,18298657,19453261,19479890,19886737 51043 NM_015872,AL451085,CH471121,AF007833,AK127884,AK291619,BC012070,BF510901,CK820289,CR749303,AK304762 ACE86993,ACE86999,NP_056956,CAI13266,EAW53149,EAW53150,EAW53151,AAC51847,BAF84308,AAH12070,CAH18158,O15156,ABZ92023,ACE87634,ACE87682,ACE87688,ACE86946,BAG65517 Hs.727719 DKFZp686G01254|THPOK|ZBTB15|ZFP67|ZNF857B|c-Krox|hcKrox OTTHUMP00000035545|T-helper-inducing POZ/Krueppel-like factor|krueppel-related zinc finger protein cKrox|kruppel-related zinc finger protein hcKrox|zfp-67|zinc finger and BTB domain containing 15|zinc finger and BTB domain-containing protein 15|zinc finger and BTB domain-containing protein 7B|zinc finger protein 67 homolog|zinc finger protein 67 homolog (mouse)|zinc finger protein 857B|zinc finger protein Th-POK protein-coding 1606940 ZBTB7C zinc finger and BTB domain containing 7C 17932560,14702039,9427755,1716694 201501 NM_001039360,AC105042,AC105101,AK095226,AM988836,AM988837,AM988838,AM988839,EF120357,CD366839 NP_001034449,CAQ43041,CAQ43042,CAQ43043,CAQ43044,ABL98073,A1YPR0,AAI67847 Hs.515388 APM-1|APM1|FLJ37907|ZBTB36|ZNF857C B230208J24Rik|BTB/POZ-zinc finger protein-like|affected by papillomavirus DNA integration in ME180 cells protein 1|zinc finger and BTB domain containing 36|zinc finger and BTB domain-containing protein 36|zinc finger and BTB domain-containing protein 7C|zinc finger protein 857C protein-coding 1318711 ZBTB8A zinc finger and BTB domain containing 8A 737633,1580863 16710414,16344560,14702039,12477932,16189514,17207965,16959974,20379614 737633 653121 NM_001040441,AL033529,CH471059,AF548353,AK074546,AY157873,BC015067,BC015239,BC029654,DA530035 ADQ32703,NP_001035531,CAI20023,CAI20024,EAX07522,AAN40800,BAC11050,AAN77376,AAH15067,AAH15239,AAH29654,Q96BR9 Hs.546479 BOZF1|FLJ90065|MGC17919|ZBTB8|ZNF916A BOZ-F1|BTB/POZ and zinc-finger domain-containing factor|BTB/POZ and zinc-finger domains factor on chromosome 1|zinc finger and BTB domain containing 8|zinc finger and BTB domain-containing protein 8A protein-coding 2307066 ZBTB8B zinc finger and BTB domain containing 8B 16710414,14702039,15761153,16189514 728116 NM_001145720,AL356986,AL442095 NP_001139192,CAH10660,Q8NAP8 Hs.647658 DKFZp547H154|RP1-27O5.1|ZNF916B putative zinc finger and BTB domain-containing protein 8B|zinc finger and BTB domain-containing protein 8B protein-coding 1603245 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand 12477932,20936779 339487 AC114489,AL033529,AL138800,CH471059,AK289480,AY099493,AY099494,AY151084,AY151085,NM_178547,AY158005,BC058843 NP_848642,CAI20020,CAI20021,EAX07516,EAX07517,EAX07518,EAX07519,BAF82169,AAM34477,AAM34478,AAN75223,AAN75224,AAO16589,AAH58843,Q7Z617,Q8IWT0 Hs.655921 ARCH|ARCH2|MGC62007 OTTHUMP00000036124|archease (ARCH)|archease-like protein|protein archease|zinc finger and BTB domain-containing opposite strand protein 8 protein-coding 4144726 ZBTB8OSP2 zinc finger and BTB domain containing 8 opposite strand pseudogene 2 729898 AADB02002877,ABBA01002057,AC017104,XM_001133395,XM_001134101,XM_001720976 XP_001133395,XP_001134101,XP_001721028 Hs.632543 zinc finger and BTB domain containing 8 opposite strand pseudogene 2 protein-coding 1354226 ZBTB9 zinc finger and BTB domain containing 9 737633,1580863 19851445,15489334,14702039,12477932,17207965,20211142 737633 221504 BC014978,BC048321,BX488390,CR605806,NM_152735,AL662799,BX088650,CH471081,AK122644,AK313571 BAG36344,AAH14978,Q96C00,NP_689948,CAM26308,EAX03739,BAG53637,ADQ32645 Hs.591805 MGC23166|ZNF919 zinc finger and BTB domain-containing protein 9 protein-coding 1602996 ZC3H10 zinc finger CCCH-type containing 10 19240061,18814840,16713569,16189514,15489334,14702039,12477932 84872 NM_032786,AC034102,CH471054,AK027357,BC018708,CR613256 NP_116175,EAW96888,EAW96889,BAB55059,AAH18708,Q96K80,ACE87719,ACE87035 Hs.632706 FLJ14451|ZC3HDC10 zinc finger CCCH domain-containing protein 10|zinc finger CCCH-type domain containing 10 protein-coding 1605103 ZC3H11A zinc finger CCCH-type containing 11A 17081983,16964243,16565220,16344560,15489334,15302935,14702039,12477932,11181995,9734811,16189514,19060904,19536175 9877 NM_014827,AC114402,CH471067,AB014563,AK095858,AK310470,AL049419,BC014268,BC038513,BC046137,BC048271,BX648271,BX649148,CA419266,CR627439,CR627446,DA800934,AK296983 NP_055642,EAW91492,EAW91493,BAA31638,AAH14268,AAH46137,CAH10553,CAH10566,CAH10525,CAH10530,O75152,BAG59524 Hs.532399 DKFZp686D03108|DKFZp686F14109|DKFZp781G2455|KIAA0663|ZC3HDC11A OTTHUMP00000034097|OTTHUMP00000034216|zinc finger CCCH domain-containing protein 11A|zinc finger CCCH-type domain containing 11A protein-coding 1603332 ZC3H11B zinc finger CCCH-type containing 11B pseudogene 643136 NG_007367,AC096643,AL356364,CH471100,CR609066,CR615142 EAW93317 ZC3HDC11B pseudo 1602205 ZC3H12A zinc finger CCCH-type containing 12A ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM] 19185603,18364357,18178554,16574901,16344560,16189514,15862967,14702039,20807520,12477932,19747262,18029348 80149 NM_025079,AL034379,AL449284,CH471059,AK026884,AK093343,AY920403,BC005001,CR457364,CR995909,DA601465,FJ695517 NP_079355,CAI20551,CAH73689,EAX07346,EAX07347,EAX07348,BAB15581,BAG52695,AAX14017,AAH05001,CAG33645,ACN39723,Q5D1E8 Hs.656294 FLJ23231|MCPIP|MCPIP1|RP3-423B22.1|dJ423B22.1 MCP induced protein 1|MCP-1 treatment-induced protein|MCP-induced protein 1|ribonuclease ZC3H12A|zinc finger CCCH domain-containing protein 12A protein-coding 1601698 ZC3H12B zinc finger CCCH-type containing 12B 18178554,18029348,16344560,15772651,14702039,12477932,8889548 340554 NM_001010888,AL050306,CH471132,Z83841,AK091685,AL712229,BC140767,BC171781,BX415643,BX647241,CR595814,DA401831,DY655010,BU688472,NG_021264 NP_001010888,CAI42834,EAX05405,EAX05406,CAI42594,AAI71781,CAI46044,Q5HYM0,AAI40768 Hs.21249 CXorf32|MCPIP2 MCP-induced protein 2|OTTHUMP00000023434|probable ribonuclease ZC3H12B|zinc finger CCCH domain-containing protein 12B protein-coding 1602083 ZC3H12C zinc finger CCCH-type containing 12C 18178554,14702039,11214970,17114934,17903301,20379614 85463 NM_033390,AP001889,AB051513,AB096241,AK095101,AK295437,AK299100,AP000901,AL832893 NP_203748,BAB21817,BAG58377,BAG61159,Q9C0D7 Hs.376289 KIAA1726|MCPIP3 MCP induced protein 3|MCP-induced protein 3|probable ribonuclease ZC3H12C|zinc finger CCCH domain-containing protein 12C protein-coding 1345806 ZC3H12D zinc finger CCCH-type containing 12D 18178554,17854321,15489334,14702039,14574404,12477932,17210687 340152 NM_207360,AL031133,AB458221,AB458222,AK090441,AK127932,BC127762,BC157832 BAH28268,BAH28269,BAC03422,BAC87196,AAI27763,AAI57833,A2A288,Q8NF40,NP_997243,CAM28211,CAX11886,CAX11887 Hs.632618 C6orf95|FLJ00361|FLJ46041|MCPIP4|TFL|dJ281H8.1|p34 MCP induced protein 4|MCP-induced protein 4|Zinc finger CCCH domain-containing protein 12D|chromosome 6 open reading frame 95|probable ribonuclease ZC3H12D|tumor suppressor TFL protein-coding 1317090 ZC3H13 zinc finger CCCH-type containing 13 17081983,16964243,15302935,15146197,15144186,15057823,15009096,14702039,12477932,11230166,10048485 23091 AK074924,AK092988,AL136745,AL831833,AY283618,BC019000,BC032425,BC050658,BC062685,BC107864,CN262326,AL157758,NM_015070,AL445232,CH471075,AB020660,AK001815,AK056422 BAG52030,CAB66679,CAD38544,AAP37483,AAH19000,AAH32425,AAI07865,Q32Q34,Q5T200,Q5T9K0,Q6PJ96,AAI56056,AAI57033,NP_055885,CAI10902,CAI10903,CAI16505,CAI16506,EAX08750,EAX08751,EAX08752,BAA74876,BAG50980 Hs.136102 DKFZp434D1812|FLJ35669|KIAA0853 OTTHUMP00000018356|zinc finger CCCH domain-containing protein 13 protein-coding 732811 ZC3H14 zinc finger CCCH-type containing 14 19273536,19303045,17630287,16344560,16189514,14702039,12477932,10508479,20658987 79882 NM_024824,NM_207661,NM_207662,NM_001160103,NM_001160104,AL162171,CH471061,AF155107,NM_207660,AF474376,AK021868,AK090809,AK302136,AK303123,AK304275,AL359625,AL834215,AY578060,AY578061,AY578062,AY578063,BC011793,BC023641,BC027607,BC034274,BX248265,BX248281,BX248769,BX640716,BX640876,DB050247,DB452844 NP_997543,NP_079100,NP_997544,NP_997545,NP_001153575,NP_001153576,EAW81384,EAW81385,EAW81386,EAW81387,EAW81388,EAW81389,EAW81390,EAW81391,EAW81392,AAD42873,AAL83289,BAG63510,BAG64229,BAG65136,CAD38897,AAS90299,AAS90300,AAS90301,AAS90302,AAH11793,AAH23641,AAH27607,CAD62593,CAD62609,CAD66576,CAE45835,CAE45933,Q6PJT7,ACE87656,ACE86966 Hs.725164 FLJ11806|MGC26892|NY-REN-37|SUT2|UKp68 nuclear protein UKp68|nuclear protein ukp68|renal carcinoma antigen NY-REN-37|zinc finger CCCH domain-containing protein 14 protein-coding 1601751 ZC3H15 zinc finger CCCH-type containing 15 14702039,12477932,10880228,18029348,20925576,17207965 55854 NM_018471,AC018867,CH471058,AF109366,AF147724,AF161421,AF220184,AF289586,AK001901,AL040058,BC012336,BC021102,CR601058,CR601257,CR618848,CR622467,AK297658,AK298615 NP_060941,AAX88885,EAX10935,EAX10936,AAQ13514,AAF28981,AAF67649,AAL55770,BAA91968,AAH21102,Q8WU90,ABW03804,BAG60024,BAH12828,ADQ32272 Hs.725998 HT010|LEREPO4|MSTP012 DRG family-regulatory protein 1|likely ortholog of mouse immediate early response erythropoietin 4|zinc finger CCCH domain-containing protein 15 protein-coding 1602304 ZC3H18 zinc finger CCCH-type containing 18 12477932,17579712,15302935,14702039,9373149,8125298,15146197,16344560,19615732,20379614 124245 NM_144604,AC116552,CH471184,AK026317,AK091849,AK093394,AK122593,AK225807,AK300254,AK302716,BC001584,BC050463,CR601060,CN299704,DA313229 EAW66803,Q86YU5,NP_653205,EAW66799,EAW66800,EAW66801,EAW66802,EAW66804,EAW66805,BAG52426,BAG52705,BAC56934,BAG62019,BAG63936,AAH01584,AAH50463,Q86VM9,ACE87580,ACE86893 Hs.93670 FLJ22664|FLJ34530|FLJ36075|NHN1 conserved nuclear protein NHN1|nuclear protein NHN1|zinc finger CCCH domain-containing protein 18 protein-coding 1316375 ZC3H3 zinc finger CCCH-type containing 3 737633 19364924,19851296,20198315,15489334,12477932,8590280 737633 23144 NM_015117,AC067930,AC105118,CH471162,AA806585,BC038670,BM148116,D63484 NP_055932,EAW82249,AAH38670,BAA09771,Q8IXZ2 Hs.521915 KIAA0150|ZC3HDC3 zinc finger CCCH domain-containing protein 3|zinc finger CCCH type domain containing 3|zinc finger CCCH-type domain containing 3 protein-coding 1316321 ZC3H4 zinc finger CCCH-type containing 4 17081983,16964243,15302935,15146197,14702039,12168954,10470851,20935630 23211 NM_015168,AC008755,AB028987,AK074282,AK125279,AL050155,AW603637,CN300565,NG_027798 NP_055983,BAA83016,CAB43296,Q9UPT8 Hs.104661 C19orf7|KIAA1064 zinc finger CCCH domain-containing protein 4 protein-coding 1322317 ZC3H6 zinc finger CCCH-type containing 6 16344560,15815621,14702039,12477932,8889548 376940 NM_198581,AC115115,AB111887,AK123404,AK127776,AK131416,AL831901,BC155540,BC167154,BM683817,BX649154,DA334613 NP_940983,BAC98375,BAC85608,BAC87128,BAD18563,AAI55541,AAI67154,P61129,Q6ZN12,Q6ZW96 Hs.190477 FLJ16526|FLJ41410|FLJ45877|KIAA2035|ZC3HDC6 OTTHUMP00000203604|zinc finger CCCH domain-containing protein 6|zinc finger CCCH type domain containing 6|zinc finger CCCH-type domain containing 6 protein-coding 1322571 ZC3H7A zinc finger CCCH-type containing 7A 737633,1580863 20936779,17081983,15489334,14702039,12477932,11042152,16344560,16169070,19305408 737633 29066 NM_014153,AC007613,CH471112,AF161540,AK000325,AK000889,AK001869,AK026827,AK026956,AK091803,AY163807,BC012575,BC036857,BC046363,DA160892,BX647154 NP_054872,EAW85138,EAW85139,EAW85140,AAF29027,BAA91087,BAA91408,BAA91952,AAO06906,AAH12575,AAH36857,AAH46363,Q8IWJ6,Q8IWR0 Hs.371856 FLJ10027|FLJ20318|HSPC055|ZC3H7|ZC3HDC7 zinc finger CCCH domain-containing protein 7A|zinc finger CCCH type domain containing 7|zinc finger CCCH-type domain containing 7|zinc-finger protein AY163807 protein-coding 1601882 ZC3H7B zinc finger CCCH-type containing 7B This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq] 15047801,18799579,16713569,15592455,15489334,14702039,12477932,11230166,10591208,10470851,9373149,8125298,20379614 23264 BC056860,AL035659,CH471095,AB028954,AF188530,AK023849,AK225891,AK315009,AL136802,BC004857,BC024313,BC047002,NM_017590,BC098378,BC152558,CR626766 NP_060060,CAI23515,EAW60425,EAW60426,EAW60427,EAW60428,EAW60429,BAA82983,AAF05541,BAG37501,AAH04857,AAH24313,AAI52559,Q9BSS8,Q9UGR2,AAI67846 Hs.592188 DKFZp434K0920|FLJ13787|KIAA1031|RoXaN Rotavirus 'X' associated non-structural protein|rotavirus 'X'-associated non-structural protein|rotavirus X protein associated with NSP3|ubiquitous tetratricopeptide containing protein RoXaN|zinc finger CCCH domain-containing protein 7B protein-coding 1321369 ZC3H8 zinc finger CCCH-type containing 8 737633,1580863 15489334,12477932,17207965,12077251,12153508 737633 84524 NM_032494,AC092645,AC115115,CH471245,AF334161,AK315329,BC032001,BG773518,CR590012,CV574571 ADQ33156,NP_115883,AAY14855,AAY24050,EAW52103,AAK13496,AAH32001,Q53QC9,Q53RD8,Q8N5P1 Hs.418416 Fliz1|ZC3HDC8 OTTHUMP00000203585|zinc finger CCCH domain-containing protein 8|zinc finger CCCH type domain containing 8|zinc finger CCCH-type domain containing 8 protein-coding 736106 ZC3HAV1 zinc finger CCCH-type, antiviral 1 This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq] 18225958,17928353,17081983,16964243,15489334,15302935,14702039,14557641,12851707,12690205,12477932,12215647,11483580,20451500,20048147 56829 AF138863,AK023350,AK055851,AK098308,AK292811,BC002935,BC025308,BC027462,BC033105,BC038809,BC040956,BX571742,BX647138,BX647974,NM_020119,NM_024625,AC018644,AC083868,CH236950,CH471070 EAW83902,EAW83903,EAW83904,EAW83905,AAF61195,BAB14537,BAB71028,BAF85500,AAH02935,AAH25308,AAH27462,AAH33105,AAH40956,CAE11868,Q05DV5,Q7Z2W4,NP_064504,NP_078901,EAL24040,EAL24041 Hs.133512 DKFZp686F2052|DKFZp686H1869|DKFZp686O19171|FLB6421|FLJ13288|MGC48898|PARP13|ZAP|ZC3H2|ZC3HDC2 CCCH-type zinc finger antiviral protein|OTTHUMP00000212200|OTTHUMP00000212201|ccch-type zinc finger antiviral protein (zap)|zinc finger CCCH domain-containing protein 2|zinc finger CCCH type, antiviral 1|zinc finger CCCH-type antiviral protein 1|zinc finger antiviral protein protein-coding 1601938 ZC3HAV1L zinc finger CCCH-type, antiviral 1-like 12477932 92092 NM_080660,AC083868,CH236950,CH471070,BC008842,BC020784 NP_542391,EAW83900,AAH08842,AAH20784,Q96H79 Hs.512833,Hs.723387 C7orf39|MGC14289 zinc finger CCCH-type antiviral protein 1-like protein-coding 1347342 ZC3HC1 zinc finger, C3HC-type containing 1 737633 16105984,17081983,16964243,16381901,16009132,15489336,15489334,14702039,12853948,12748172,12477932,11076863,11042152,10737800,11256614,17389604 737633 51530 AC073320,NM_016478,AC087071,CH236950,CH471070,AF151050,AJ537494,AK001317,AK022373,BC000190,BC011551,BC028917,BF745935,BX490781,CR603577,CR607048,CR617545,CR618908 NP_057562,AAS07546,AAS07547,EAL24097,EAW83738,EAW83739,EAW83740,EAW83741,EAW83742,EAW83743,AAF36136,CAD61161,BAA91619,BAB14024,AAH00190,AAH11551,AAH28917,Q86WB0,Q9BWJ8,CAL38293 Hs.194157,Hs.720668 1110054L24Rik|FBXO50|HSPC216|NIPA OTTHUMP00000212330|hNIPA|hematopoietic stem/progenitor cell protein 216|nuclear interacting partner of anaplastic lymphoma kinase (ALK)|nuclear interaction partner of ALK|nuclear-interacting partner of ALK|nuclear-interacting partner of anaplastic lymphoma kinase|zinc finger C3HC-type protein 1|zinc finger, C3HC type 1|zinc finger, c3hc type 1 protein-coding 1349237 ZC4H2 zinc finger, C4H2 domain containing 16189514,15772651,15489334,14702039,12477932,12097419,10574461,9373149,8125298,17474147,20932654 55906 NM_018684,AL355606,CH471132,AB032992,AF270491,AK001547,AK022807,AK022918,AK123763,AK222708,AK293570,AK315485,BC004411,CR614211,NG_021200,NM_001178032,NM_001178033 NP_061154,CAI41368,CAI41369,EAX05408,EAX05409,BAA86480,AAF75787,BAB14252,BAB14308,BAG53957,BAD96428,BAG57041,BAG37869,AAH04411,Q53H73,Q9NQZ6,NP_001171503,NP_001171504 Hs.28249 HCA127|KIAA1166 OTTHUMP00000023433|hepatocellular carcinoma-associated antigen 127|zinc finger C4H2 domain-containing protein protein-coding 1317755 ZCCHC10 zinc finger, CCHC domain containing 10 737633,1580863 16189514,15489334,14702039,12477932,16169070,17207965 737633 54819 NM_017665,AC113410,CH471062,AF086446,AK000101,AK122970,AK300543,BC005211,BC015986,BC022443,CR598591 NP_060135,EAW62296,EAW62297,EAW62298,EAW62299,EAW62300,BAA90946,BAG53827,BAG62251,AAH05211,AAH22443,Q8TBK6,ADQ32238 Hs.29700 FLJ20094 OTTHUMP00000222568|OTTHUMP00000222569|OTTHUMP00000222572|OTTHUMP00000222573|zinc finger CCHC domain-containing protein 10 protein-coding 1320865 ZCCHC11 zinc finger, CCHC domain containing 11 18029348,16643855,16710414,15489334,14702039,12477932,12239557,8724849,19913121,20628086,16344560,18172165,19701194,19703396,20379614 23318 NM_015269,AL138849,AL591167,CH471059,AK025698,AK095733,AK307579,AK308427,BC012047,BC018753,BC035820,BC048301,BC131734,BX439159,NM_001009881,BX648248,BX648783,CR604717,CR616727,D83776,AK124868,BX649065,DA748708,R60512 NP_001009881,NP_056084,CAI23476,CAI23477,CAI23478,EAX06778,EAX06780,AAI31735,BAA12105,Q5TAX3 Hs.655407 DKFZp779C1943|FLJ42878|PAPD3|TUT4 PAP associated domain containing 3|TUTase 4|terminal uridylyltransferase 4|zinc finger CCHC domain-containing protein 11 protein-coding 1342670 ZCCHC12 zinc finger, CCHC domain containing 12 737633 17207965,19416967,19578717,18798319,18160706,16189514,15489334,14702039,12477932 737633 170261 NM_173798,AC006965,CH471161,AK122676,BC018066,BC031241,BC033958,BC036572,BC057841,CR594993 ADQ32984,NP_776159,EAW89892,BAG53660,AAH31241,AAH36572,AAH57841,Q6PEW1 Hs.21417 FLJ16123|SIZN|SIZN1 2810028A01Rik|smad-interacting zinc finger protein 1|zinc finger CCHC domain-containing protein 12 protein-coding 1346047 ZCCHC13 zinc finger, CCHC domain containing 13 1580863 16713569,15489334,12477932,12045143,15961456,18312684 389874 NM_203303,AC004386,CH471104,BC021176,BX109166,HC044691,NG_021228 NP_976048,EAW98646,EAW98647,AAH21176,Q8WW36,ABZ92476,ACE87304,ACE86623,CBH30675 Hs.157231 CNBP2|Cnbp2|ZNF9L cellular nucleic acid binding protein-like|zinc finger CCHC domain-containing protein 13 protein-coding 1349569 ZCCHC14 zinc finger, CCHC domain containing 14 737633,1580863 16344560,16189514,15146197,12477932,12168954,9628581 737633 23174 NM_015144,AC010531,AC092720,AC105429,CH471114,AB011151,AB030243,AK289682,AL117532,BC028304,BC038944,BC101478,CN352228,DB038312 NP_055959,EAW95388,EAW95389,EAW95390,EAW95391,BAA25505,BAB83129,BAF82371,CAB55981,AAI01479,Q8WYQ9 Hs.156231 BDG-29|BDG29|MGC126527|MGC14139 zinc finger CCHC domain-containing protein 14 protein-coding 1603494 ZCCHC16 zinc finger, CCHC domain containing 16 18029348,19260141,16093683,15716091,14702039,12477932 340595 NM_001004308,AL031176,AL031223,AL031388,AL392112,AL929583,BX088563,BX119929,AK128465,BC137430,BC137433 NP_001004308,BAC87453,AAI37431,AAI37434,Q6ZR62 Hs.368140 FLJ46608|Mar4|Mart4 mammalian retrotransposon-derived protein 4|zinc finger CCHC domain-containing protein 16 protein-coding 1604815 ZCCHC17 zinc finger, CCHC domain containing 17 16710414,16189514,15489334,14702039,12893261,12477932,12202495,11042152 51538 NM_016505,AL451070,CH471059,AF151077,AF151085,AF247661,AK001929,AK022506,AK024049,AK302248,AK302343,AK307478,BC000685,BC007446,BC050609,CR592026,CR594706,CR599294,CR602299,CR609881,CR614242,CR626544 NP_057589,CAH71849,EAX07620,EAX07621,EAX07622,EAX07623,EAX07624,EAX07625,AAF36163,AAF36171,AAF72518,BAA91984,BAB14066,BAB14799,BAG63600,BAG63671,AAH00685,AAH07446,AAH50609,Q9NP64,ABM84172,ABM87574 Hs.524094 HSPC251|PS1D|RP11-266K22.1|pNO40 nucleolar protein 40|nucleolar protein of 40 kDa|pnn-interacting nucleolar protein|putative S1 RNA binding domain protein|putative S1 RNA-binding domain protein|zinc finger CCHC domain-containing protein 17 protein-coding 2291777 ZCCHC18 zinc finger, CCHC domain containing 18 16344560,15146197,15772651 644353 NM_001143978,NR_026694,AF086548,CN272796,DA166381,DA503483,DA781887 NP_001137450,P0CG32 Hs.648338 Sizn2 Putative zinc finger CCHC domain-containing protein 18|putative zinc finger CCHC domain-containing protein 18|zinc finger, CCHC domain containing 18|zinc finger, CCHC domain containing 18 pseudogene protein-coding 1343061 ZCCHC2 zinc finger, CCHC domain containing 2 1580863 11256614,17081983,16381901,15489336,14702039,12975309,12477932,11230166,11214970,11076863,10737800,8889548 54877 NM_017742,AC064801,CH471096,AA903206,AB051531,AK000288,AK098132,BC006340,BC137435,BI023990,BU675299,BX485381,CD365705,DN997998 NP_060212,EAW63126,EAW63127,EAW63128,BAB21835,BAA91057,BAG53581,AAH06340,AAI37436,Q9BRD4,Q9C0B9,CAL38351 Hs.114191,Hs.714637 DKFZp451A185|FLJ20281|KIAA1744|MGC13269 zinc finger CCHC domain-containing protein 2 protein-coding 1314625 ZCCHC24 zinc finger, CCHC domain containing 24 737633 16385451,20379614,17081983,15489334,15164054,14702039,12477932 737633 219654 NM_153367,AL133481,CH471083,CQ783407,AK024784,AK075279,AK293361,AK303734,AK308876,AL049949,BC016959,BC028617,BC032450,BC039249,BC053564,BX648607 NP_699198,CAH72723,CAH72724,EAW54649,EAW54650,CAF86612,BAC11516,BAG56877,BAG64708,AAH28617,AAH39249,AAH53564,Q8N2G6 Hs.523080 C10orf56|FLJ90798 zinc finger CCHC domain-containing protein 24 protein-coding 1352502 ZCCHC3 zinc finger, CCHC domain containing 3 1580863 15592455,15489334,12477932,11780052 85364 NM_033089,AL034548,CH471133,AK025768,BC020460,BC036469,BC069238,BC107584,CR596693 CAB81631,EAX10684,AAH69238,AAI07585,Q3B7J3,Q9NUD5,NP_149080 Hs.28608,Hs.603608 C20orf99|MGC104290 zinc finger CCHC domain-containing protein 3 protein-coding 1322864 ZCCHC4 zinc finger, CCHC domain containing 4 1580863 17081983,15489334,15225602,14702039,12477932,11042152 29063 NM_024936,AC108218,CH471069,AF161537,AK026677,AK299211,AK309675,AY629351,BC016914,BC157834,BC171821,BG719159,CR610354,CR619058 NP_079212,EAW92837,AAF29024,BAB15524,BAG61250,AAV41218,AAH16914,AAI57835,AAI71821,Q9H5U6,Q9NZY3 Hs.278945 HSPC052|MGC21108 DHHC domain-containing zinc finger protein|OTTHUMP00000218484|zinc finger CCHC domain-containing protein 4 protein-coding 1346934 ZCCHC5 zinc finger, CCHC domain containing 5 1580863 12477932,16093683,15772651,15716091,14702039 203430 AI091777,NG_015973,NM_152694,AL662885,CH471104,AK096184,BC136548,BC136549 NP_689907,EAW98597,BAC04719,AAI36549,AAI36550,Q8N8U3,CAI41449 Hs.134873 FLJ38865|Mar3|Mart3|ZHC5 mammalian retrotransposon-derived 3|zinc finger CCHC domain-containing protein 5 protein-coding 1344359 ZCCHC6 zinc finger, CCHC domain containing 6 737633 17353264,18172165,8889548,16381901,15489336,15489334,15164053,14702039,12477932,11230166,11214970,11076863 737633 79670 BU734789,CA773862,DC377509,NM_001185059,NM_001185074,CH471089,AB051498,AK023471,AK055546,AK055948,AK058021,AL832026,AL832193,AL832965,AL832988,BC015897,BC016387,BC032456,BC111003,BC144523,BX641077,CR616935,CR620723,CR933643,CR933644,CR936608,NM_024617,AL137849,AL353678,HI574282 NP_001171988,NP_001172003,CAH71514,CAH71515,CAH71516,CAH71517,CAH71518,CAH71519,EAW62714,EAW62715,EAW62716,EAW62717,EAW62718,BAB21802,BAB14584,BAB70951,BAB71052,CAH56219,CAH56214,AAH16387,AAH32456,CAE46038,CAI45944,CAI45945,CAI56753,Q5VYS8,Q5VYS9,Q5VYT0,Q96KX5,CAL37899,CAL38400,NP_078893,CAI14918,CAI14919,CAI14920,CAI14921,CBX47630 Hs.597057 DKFZp666B142|DKFZp686C11112|DKFZp686F119|DKFZp686I1269|PAPD6 PAP associated domain containing 6|TUTase 7|terminal uridylyltransferase 7|zinc finger CCHC domain-containing protein 6 protein-coding 1321384 ZCCHC7 zinc finger, CCHC domain containing 7 737633,1580863 15489334,15342556,15231748,15164053,14702039,12477932,19586940 737633 84186 NM_032226,AL158155,AL358118,AL512604,CH471071,AF161349,AI458621,AK026264,AK074608,AK303193,AK315128,BC005990,BC022434,BC034022,BC036940,BP246540,CR592693,CR611439,CR621518 NP_115602,CAI13846,CAI12725,CAI12726,EAW58288,EAW58289,EAW58290,EAW58291,AAF28909,BAB15418,BAC11087,BAG64286,BAG37581,AAH05990,AAH22434,AAH36940,Q05DN1,Q8N3Z6,ADR82669 Hs.654700 AIR1|FLJ22611|HSPC086|RP11-397D12.1 zinc finger CCHC domain-containing protein 7 protein-coding 1320291 ZCCHC8 zinc finger, CCHC domain containing 8 737633 17525332,16964243,16263084,15489334,15302935,15231748,14702039,12477932,11991638 737633 55596 AC127002,NM_017612,CH471054,AA447641,AK026831,AK027702,AK074638,AK291174,AK307318,AL157433,BC017704,BC065918 NP_060082,EAW98325,EAW98326,BAB55308,BAC11105,BAF83863,CAB75657,AAH17704,AAH65918,Q6NZY4 Hs.37706 DKFZp434E2220 zinc finger CCHC domain-containing protein 8 protein-coding 1316648 ZCCHC9 zinc finger, CCHC domain containing 9 737633,1580863 15635413,15146197,12477932,15489334,16712791 737633 84240 NM_032280,NM_001131035,NM_001131036,AC008411,CH471084,AI961614,AK314160,AL512712,BC014841,BC022799,BC032736,BG776648,CB126982,CN261947,CR590561,CR605795,CR613153,CR621689,CR623960 NP_115656,NP_001124507,NP_001124508,EAW95870,EAW95871,EAW95872,EAW95873,BAG36844,CAC21654,AAH32736,Q8N567 Hs.15536 DKFZp761J139 OTTHUMP00000147543|zinc finger CCHC domain-containing protein 9 protein-coding 1604568 ZCRB1 zinc finger CCHC-type and RNA binding motif 1 Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq] 15146077,17081983,16959469,15489334,12477932 85437 NM_033114,AC079684,CH471111,AB062361,AK308244,BC005099,BC010177,BC022543,BI666919,BK005200 NP_149105,EAW57842,EAW57843,EAW57844,BAB56132,AAH05099,AAH10177,AAH22543,DAA05498,Q05DR1,Q8TBF4,ABM83017,ABM86210 Hs.496279 MADP-1|MADP1|MGC26805|RBM36|ZCCHC19 U11/U12 small nuclear ribonucleoprotein 31 kDa protein|U11/U12 snRNP 31 kDa protein|U11/U12 snRNP 31K|U11/U12-31K|zinc finger CCHC-type and RNA-binding motif-containing protein 1 protein-coding 1313418 ZCWPW1 zinc finger, CW type with PWWP domain 1 1580863 15489334,14702039,14607086,12477932,11230166 55063 NM_017984,AC005071,AC092849,CH236956,CH471091,AK000919,AK093038,AK299989,AK300745,AK302108,AK316553,AL136735,BC002725 NP_060454,EAW76538,EAW76539,EAW76540,EAW76541,BAA91424,BAC04028,BAG61810,BAG62414,BAG63489,BAG65631,CAB66669,AAH02725,Q9H0M4 Hs.105191 DKFZp434N0510|FLJ10057|ZCW1 OTTHUMP00000215762|zinc finger CW-type PWWP domain protein 1|zinc finger, CW-type with PWWP domain 1 protein-coding 1347606 ZCWPW2 zinc finger, CW type with PWWP domain 2 14607086,12600744,12477932 152098 NM_001040432,AC093142,CH471055,AB087877,AJ519236,BC065764,BC094696 NP_001035522,EAW64399,BAC55088,CAD60297,AAH94696,Q504Y3 Hs.510635,Hs.539824,Hs.659030 ZCW2 OTTHUMP00000208512|zinc finger CW-type PWWP domain protein 2 protein-coding 1605970 ZDBF2 zinc finger, DBF-type containing 2 14702039,10997877,19200453 57683 NM_020923,AC017081,AB046791,AK024339,AK127271,AK130893 NP_065974,BAB13397,BAC85454,Q9HCK1 Hs.110489 FLJ45338|KIAA1571 DBF4-type zinc finger-containing protein 2 protein-coding 1348828 ZDHHC1 zinc finger, DHHC-type containing 1 1580863 10395086,15489334,12477932,20549515 29800 AC009061,CH471092,AK307155,BC021908,BC045169,CA432496,U90653,NM_013304 NP_037436,EAW83132,EAW83133,AAH21908,AAB86591,Q8WTX9 Hs.624541,Hs.658333 C16orf1|HSU90653|ZNF377 DHHC domain-containing cysteine-rich protein 1|DHHC-1|DHHC-domain-containing cysteine-rich protein|probable palmitoyltransferase ZDHHC1|zinc finger DHHC domain-containing protein 1|zinc finger protein 377|zinc finger, DHHC domain containing 1 protein-coding 1351702 ZDHHC10 zinc finger, DHHC domain containing 10 93950 1343630 ZDHHC11 zinc finger, DHHC-type containing 11 1580863 18025801,15489334,14702039,12975309,12477932,20379614 79844 NM_024786,AC010427,AC026740,AC122719,CH471304,AF267859,AK023215,AK024233,AY358673,BC032000,CR605165 NP_079062,EAW52307,AAG44728,BAB14468,AAQ89036,AAH32000,Q6UWR9,Q9H2I9,Q9H8X9 Hs.654874 FLJ13153|ZNF399 DHHC-11|probable palmitoyltransferase ZDHHC11|zinc finger DHHC domain-containing protein 11|zinc finger protein 399|zinc finger, DHHC domain containing 11 protein-coding 1602781 ZDHHC11B zinc finger, DHHC-type containing 11B 15372022 653082 XM_003118532,XM_926053,AC026740 XP_003118580,XP_931146,P0C7U3 DHHC-11B Probable palmitoyltransferase ZDHHC11B|Zinc finger DHHC domain-containing protein 11B|probable palmitoyltransferase ZDHHC11B|zinc finger, DHHC-type containing 11B protein-coding 1315298 ZDHHC12 zinc finger, DHHC-type containing 12 1580863 16303743,15489334,15164053,14702039,12477932,17207965 84885 NM_032799,AL441992,CH471090,AK027430,AK075332,AK092843,AK315746,BC009280,BC048251,BU506687 NP_116188,CAI15402,CAI15403,CAI15404,CAI15405,CAI15406,EAW87826,EAW87827,EAW87828,BAB55104,BAC11553,BAG38100,AAH09280,AAH48251,Q5T269,Q96GR4,ADQ33049 Hs.133122 FLJ14524|MGC13153|MGC54050|ZNF400 DHHC-12|OTTHUMP00000022288|OTTHUMP00000022289|OTTHUMP00000022292|probable palmitoyltransferase ZDHHC12|zinc finger DHHC domain-containing protein 12|zinc finger protein 400|zinc finger, DHHC domain containing 12|zinc finger, dhhc domain containing 12 protein-coding 1320234 ZDHHC13 zinc finger, DHHC-type containing 13 1580863 12761501,18794299,15489334,14702039,12477932,12393793,18029348 54503 NM_019028,NM_001001483,AC009652,CH471064,AB024495,AB097014,AB097027,AK001714,AK001831,AK123539,AK291348,AL833714,BC036020,BC050690,BC056152,BX648156 NP_061901,NP_001001483,EAW68357,EAW68358,BAC22090,BAC77367,BAC77380,BAA91856,BAA91930,BAF84037,AAH36020,AAH50690,AAH56152,Q8IUH4 Hs.188569 FLJ10852|FLJ10941|HIP14L|HIP3RP|MGC64994 DHHC-13|HIP14-like|HIP14-related protein|huntingtin interacting protein HIP3RP|huntingtin-interacting protein 14-related protein|huntingtin-interacting protein HIP3RP|palmitoyltransferase ZDHHC13|probable palmitoyltransferase ZDHHC13|putative MAPK-activating protein PM03|putative NF-kappa-B-activating protein 209|zinc finger DHHC domain-containing protein 13|zinc finger, DHHC domain containing 13 protein-coding 1352800 ZDHHC14 zinc finger, DHHC-type containing 14 1580863 15489334,14702039,14574404,12477932 79683 NM_024630,NM_153746,AL117344,AL133510,AL450328,CH471051,AF542388,AF542389,AJ420552,AK024637,AK092380,AK124573,AK128773,AK309408,BC008978,BC029881,BC056399,BC125072,BC125073 NP_078906,NP_714968,CAI20404,CAI42852,CAI42853,CAI42854,CAI42855,CAI39698,CAI39699,CAI39700,CAI39701,EAW47670,EAW47671,EAW47672,EAW47673,EAW47674,EAW47675,AAN47142,AAN47143,BAB14941,BAG52543,BAG54053,AAH56399,AAI25073,AAI25074,Q8IZN3 Hs.726297 FLJ20984|NEW1CP DHHC-14|NEW1 domain containing protein|NEW1 domain-containing protein|OTTHUMP00000017484|OTTHUMP00000017486|probable palmitoyltransferase ZDHHC14|zinc finger DHHC domain-containing protein 14|zinc finger, DHHC domain containing 14|zinc finger, dhhc domain containing 14 protein-coding 1345155 ZDHHC15 zinc finger, DHHC-type containing 15 1580863 16344560,15915161,15772651,15489334,14702039,12975309,12477932 158866 NM_144969,NM_001146256,NM_001146257,AC020717,AL137013,AL391055,CH471104,AK056374,AK122885,AK123754,AK128587,AK303896,AY358786,BC103980,BC103981,BC103982,BQ028106,DA439027,DC366734,NG_012974 NP_659406,NP_001139728,NP_001139729,CAI40090,EAW98627,EAW98628,EAW98629,BAB71168,BAG53779,BAG54696,BAH14076,AAQ89146,AAI03981,AAI03982,AAI03983,Q96MV8 Hs.253211 FLJ31812|MGC119974|MGC119975|MGC119976|MRX91 DHHC-15|palmitoyltransferase ZDHHC15|zinc finger DHHC domain-containing protein 15|zinc finger, DHHC domain containing 15|zinc finger, dhhc domain containing 15 protein-coding 1604262 ZDHHC16 zinc finger, DHHC-type containing 16 17123647,15489334,15164054,12975309,12477932,12021275,16385451,17207965 84287 NM_032327,NM_198043,NM_198044,NM_198045,NM_198046,AL355490,CH471066,AF258563,AJ294945,AK074427,AK297962,AY359080,BC004535,BC008074,BC011749,BC012830,BC033157,BC050652,BU500243,CR593129,CR600260,CR601357,CR606870,CR607449,CR610028,CR613335,CR614608,CR615307,CR617161,CR620000,CR620516,CR620755,CR620880 NP_115703,NP_932160,NP_932161,NP_932162,NP_932163,CAI40783,CAI40784,CAI40785,CAI40786,CAI40787,CAI40788,CAI40789,CAI40790,CAI40791,EAW49929,EAW49930,EAW49931,EAW49932,EAW49933,EAW49934,EAW49935,AAG23766,CAC82556,BAG60274,AAQ89439,AAH04535,AAH11749,AAH12830,AAH33157,Q969W1,AAH08074,ADQ32335 Hs.76662 APH2|MGC2993 Abl-philin 2|DHHC-16|OTTHUMP00000020195|OTTHUMP00000020197|OTTHUMP00000020199|OTTHUMP00000020200|probable palmitoyltransferase ZDHHC16|zinc finger DHHC domain-containing protein 16|zinc finger, DHHC domain containing 16 protein-coding 1351838 ZDHHC17 zinc finger, DHHC-type containing 17 20936779,15603740,12761501,18794299,16847693,16344560,15489887,15489334,12477932,12393793,10231032,9700202,20507996,18029348,19434754,19955568 23390 AC093014,AC124784,CH471054,AB023163,AB024494,AB097013,AB097035,NM_015336,AF049612,AF161412,AK292866,AK299089,BC030990,BC050324,DA227374 NP_056151,EAW97331,EAW97332,EAW97333,EAW97334,EAW97335,BAA76790,BAC22089,BAC77366,BAC77388,AAC26848,AAF28972,BAF85555,BAG61151,AAH30990,AAH50324,Q8IUH5 Hs.4014 HIP14|HIP3|HSPC294|HYPH|KIAA0946 DHHC-17|HIP-14|HIP-3|Huntingtin interacting protein H|huntingtin interacting protein 14|huntingtin interacting protein 3|huntingtin yeast partner H|huntingtin-interacting protein 14|huntingtin-interacting protein 3|huntingtin-interacting protein H|palmitoyltransferase ZDHHC17|putative MAPK-activating protein PM11|putative NF-kappa-B-activating protein 205|zinc finger DHHC domain-containing protein 17|zinc finger, DHHC domain containing 17 protein-coding 1319625 ZDHHC18 zinc finger, DHHC-type containing 18 1580863 16710414,15489334,14702039,12477932 84243 NM_032283,AL034380,CH471059,AK056427,AK298683,AL512765,BC066776,CR600621,CR614359 NP_115659,CAI21624,EAX07788,EAX07789,BAG60846,CAC21682,AAH66776,Q9NUE0 Hs.523710 DHHC-18|DHHC18|DKFZp667O2416 OTTHUMP00000004241|palmitoyltransferase ZDHHC18|zinc finger DHHC domain-containing protein 18|zinc finger, DHHC domain containing 18|zinc finger, dhhc domain containing 18 protein-coding 1346417 ZDHHC19 zinc finger, DHHC-type containing 19 1580863 21160409,15489334,14702039,12477932,20074548 131540 HC044725,NM_001039617,CH471191,AK122907,BC022078,BC034801,BG721568,BU929650,AC069257 CBH30692,NP_001034706,EAW53666,EAW53667,EAW53668,EAW53669,BAG53793,AAH22078,Q8WVZ1 Hs.111591 DHHC19|MGC33345 DHHC-19|OTTHUMP00000208528|OTTHUMP00000208529|probable palmitoyltransferase ZDHHC19|zinc finger DHHC domain-containing protein 19|zinc finger, DHHC domain containing 19 protein-coding 736613 ZDHHC2 zinc finger, DHHC-type containing 2 1580863 19144824,18508921,18296695,15489334,14702039,12477932,12021275,10918388,20211142,20379614 51201 NM_016353,AC079193,AC091050,CH471080,AB023584,AK001608,BC039253,BC050272,CR591508,CR598335,CR626790,HI931683 NP_057437,EAW63824,EAW63825,BAA88923,BAG50948,AAH39253,AAH50272,Q9UIJ5,CBY79708 Hs.726197 DHHC2|ZNF372 DHHC-2|palmitoyltransferase ZDHHC2|ream|rec|reduced expression associated with metastasis protein|reduced expression in cancer protein|zinc finger DHHC domain-containing protein 2|zinc finger protein 372|zinc finger, DHHC domain containing 2|zinc finger, dhhc domain containing 2 protein-coding 1606124 ZDHHC20 zinc finger, DHHC-type containing 20 15489334,15057823,14702039,12477932,8889548,20334580 253832 NM_153251,AL136219,CH471075,AK090979,AK098818,AK295804,AK299354,AL833626,BC034944,BC036691,BC037336,BC050367,BC067898,BC110517,BG720734,BU685378 NP_694983,CAH70596,EAX08307,EAX08308,EAX08309,EAX08310,BAC05422,BAG58622,BAG61350,AAH34944,AAH50367,AAH67898,AAI10518,Q2TB82,Q5W0Z9,Q8N1G7 Hs.564611,Hs.693749 FLJ25952|MGC126005 4933421L13Rik|DHHC-20|DHHC-containing protein 20|OTTHUMP00000018802|probable palmitoyltransferase ZDHHC20|zinc finger DHHC domain-containing protein 20|zinc finger, DHHC domain containing 20 protein-coding 1313969 ZDHHC21 zinc finger, DHHC-type containing 21 17207965,15489334,15164053,14702039,12477932,19754311,19956733 340481 NM_178566,AL390732,CH471071,AF161360,AK026322,AK096860,AK127313,AK292960,BC042558,AK124263,BC042439,CR606494 ADQ32464,NP_848661,CAH73849,EAW58692,EAW58693,AAF28920,BAF85649,AAH42558,Q8IVQ6,Q9P0D9 Hs.649522 9130404H11Rik|DHHC-21|DNZ1|HSPC097 probable palmitoyltransferase ZDHHC21|zinc finger DHHC domain-containing protein 21|zinc finger, DHHC domain containing 21 protein-coding 1318218 ZDHHC22 zinc finger, DHHC-type containing 22 1580863 16344560,15489334,14702039,12477932,11181995 283576 NM_174976,AC007375,CH471061,AK095612,AK294840,BC035881,BC117676,DA496626 NP_777636,EAW81271,BAC04590,BAH11901,AAI17677,Q8N966 Hs.525485 C14orf59 DHHC-22|putative palmitoyltransferase ZDHHC22|zinc finger DHHC domain-containing protein 22|zinc finger, DHHC domain containing 22|zinc finger, dhhc domain containing 22 protein-coding 1345232 ZDHHC23 zinc finger, DHHC-type containing 23 737633,1580863 15489334,15105416,14702039,12477932,9110174,8619474 737633 254887 NM_173570,AC128687,CH471052,AF131818,AK022842,AK127025,AK127260,AK127996,BC035230 NP_775841,EAW79616,EAW79617,EAW79618,EAW79619,EAW79620,BAG54425,BAG54615,AAH35230,Q8IYP9 Hs.21902 MGC42530|NIDD DHHC-23|OTTHUMP00000214913|OTTHUMP00000214914|probable palmitoyltransferase ZDHHC23|zinc finger DHHC domain-containing protein 23|zinc finger, DHHC domain containing 23|zinc finger, dhhc domain containing 23 protein-coding 1602172 ZDHHC24 zinc finger, DHHC-type containing 24 15489334,12975309,12477932,20628086,19913121 254359 NM_207340,AP002748,CH471076,AK301787,AK310561,AY358448,BC005015,BC057833,CR616301,CR623920 NP_997223,EAW74545,BAG63243,AAQ88813,AAH05015,AAH57833,Q6UX98 Hs.659933 DHHC-24|probable palmitoyltransferase ZDHHC24|zinc finger DHHC domain-containing protein 24|zinc finger, DHHC domain containing 24 protein-coding 1319160 ZDHHC3 zinc finger, DHHC-type containing 3 1580863 16713569,16189514,15489334,15231748,12477932,12163046,9110174,8619474,15229235,19955568 51304 NM_001135179,AC098649,AC104165,CH471055,AA778122,AF052182,AF247703,AF441791,AK000216,AK127837,AK299782,AL832057,AY605661,BC015467,NM_016598,BC020350,BC020424,BC038436,BC101284,BC101285,BC101286,BC101287,BC113070,CR597069,CR603157,CR625011,DB636483 NP_057682,NP_001128651,EAW64729,EAW64730,AAF63570,AAL34547,BAG61664,AAV83779,AAH15467,Q9NYG2,ACE87405,ACE86719,ACT64532,ACT64533 Hs.61430 DKFZp313D2314|FLJ20209|FLJ45940|GODZ|ZNF373 DHHC-3|DHHC1 protein|Golgi apparatus-specific protein with DHHC zinc finger domain|OTTHUMP00000211257|OTTHUMP00000211300|golgi-specific DHHC Zinc Finger Protein|palmitoyltransferase ZDHHC3|zinc finger DHHC domain-containing protein 3|zinc finger protein 373|zinc finger, DHHC domain containing 3 protein-coding 1318128 ZDHHC4 zinc finger, DHHC-type containing 4 1580863 15527767,15489334,15146197,14702039,12975309,12477932,11230166,9373149,8889548,8125298,12690205 55146 NM_001134387,NM_001134388,NM_018106,NM_001134389,AC079742,CH236963,CH878731,CS072288,AF201931,AK001341,AK223532,AK308971,AL136674,AY359090,BC001239,BQ185277,BQ925460,CN365375,CR533511,CR591069,CR609834,CR611955,CR616747,CR618376,CR624979 NP_001127859,NP_001127860,NP_060576,NP_001127861,EAL23725,EAW55023,EAW55024,EAW55025,EAW55026,EAW55027,CAI93426,AAF86867,BAA91636,BAD97252,CAB66609,AAQ89448,AAH01239,CAG38542,Q9NPG8,ABM82742,ABM85929 Hs.5268 FLJ10479|ZNF374 DHHC-4|OTTHUMP00000025197|OTTHUMP00000115925|OTTHUMP00000115926|probable palmitoyltransferase ZDHHC4|zinc finger DHHC domain-containing protein 4|zinc finger protein 374|zinc finger, DHHC domain containing 4|zinc finger, dhhc domain containing 4 protein-coding 4891558 ZDHHC4P1 zinc finger, DHHC-type containing 4 pseudogene 1 100420920 AL137878,NG_024919 pseudo 1314627 ZDHHC5 zinc finger, DHHC-type containing 5 1580863 17081983,15489334,14702039,12477932,11214970,19801377 25921 NM_015457,AP000662,CH471076,AB051535,AK023130,AK172807,AL117662,AY894889,BC026967,BX647707,CB989150,CR614518 NP_056272,EAW73771,EAW73772,EAW73773,BAB21839,BAB14420,BAD18778,CAB56033,AAX73368,AAH26967,Q2TGF0,Q9C0B5,ABM83376,ABM86588 Hs.27239 DKFZp586K0524|KIAA1748|ZNF375 DHHC-5|membrane-associated DHHC5 zinc finger protein|probable palmitoyltransferase ZDHHC5|zinc finger DHHC domain-containing protein 5|zinc finger protein 375|zinc finger, DHHC domain containing 5 protein-coding 1312223 ZDHHC6 zinc finger, DHHC-type containing 6 1580863 15489334,14702039,12477932,9373149,16169070,19801377,20379614,8125298 64429 NM_022494,AC022018,CH471066,AF267740,AK025605,AK026369,AK223086,AK308026,BC007213,BC017434,BX647270 NP_071939,EAW49526,EAW49527,EAW49528,EAW49529,EAW49530,EAW49531,AAL56663,BAB15187,BAB15462,BAD96806,AAH07213,AAH17434,Q9H6R6 Hs.196990 FLJ21952|ZNF376 DHHC-6|probable palmitoyltransferase ZDHHC6|transmembrane protein H4|zinc finger DHHC domain-containing protein 6|zinc finger protein 376|zinc finger, DHHC domain containing 6 protein-coding 1351877 ZDHHC7 zinc finger, DHHC-type containing 7 1580863 14667819,18391951,16344560,15489334,15146197,14702039,12477932,9373149,8125298 55625 NM_017740,NM_001145548,AC092341,CH471114,AK000286,AK001654,AK023428,AK130081,AK225768,AW235073,BC017702,BC018772,CN427219,CR603994,DA507340 NP_060210,NP_001139020,EAW95463,EAW95464,EAW95465,BAA91055,BAA91814,AAH17702,AAH18772,Q9NXF8,ABM82894,ABM86083 Hs.461610,Hs.723447 FLJ10792|FLJ20279|SERZ-B|SERZ1|ZNF370 DHHC-7|Sertoli cell gene with zinc finger domain-β|palmitoyltransferase ZDHHC7|zinc finger DHHC domain-containing protein 7|zinc finger protein 370|zinc finger, DHHC domain containing 7|zinc finger, dhhc domain containing 7 protein-coding 1318899 ZDHHC8 zinc finger, DHHC-type containing 8 1580863,1331525 10574462,19156168,18075473,17728672,16860541,16225675,16150541,15992527,15631889,15489334,15489219,15461802,15184899,14702039,12477932,10591208,18583979,19556522,19801377,20468064,20468065,20661937 1331525 29801 NM_013373,AC006547,CH471176,AB033118,AK131238,AY894890,BC009442,BC015243,BC053544,CR456357,NG_021420,NM_001185024 NP_037505,EAX02982,EAX02983,EAX02984,BAA86606,BAD18420,AAX73369,AAH09442,AAH53544,CAG30243,Q9ULC8,CAK54498,CAK54797,NP_001171953 Hs.63128 DHHC8|ZDHHCL1|ZNF378 membrane-associated DHHC8 zinc finger protein|probable palmitoyltransferase ZDHHC8|zinc finger protein 378|zinc finger, DHHC domain like containing 1 protein-coding 1604989 ZDHHC8P zinc finger, DHHC-type containing 8 pseudogene 16344560,15146197,14702039,12477932,8889549 150244 NR_003950,AP000344,CH471095,AA126252,AK056130,AK092530,AK092581,BC063382,BC105936,BC105937,BC107600,CK902416,CN269046,DA485168 EAW59574,EAW59575,EAW59576,EAW59577,BAB71099,BAG52567,BAC03919,Q96N15 Hs.386693 FLJ31568|MGC126046|MGC126047|ZDHHC8P pseudo 1348132 ZDHHC9 zinc finger, DHHC-type containing 9 1580863 18029348,15790807,16344560,17519897,17436253,16193335,16000296,15772651,15489334,15203218,14702039,12975309,12477932,10810093 51114 CR596648,DA493628,DA768650,NG_021387,NM_001008222,AL034405,AL359542,CH471107,AB209807,AF151847,AK001112,AK001424,AK001524,AK096967,AL161962,AY358558,AY952881,BC000035,BC003128,BC006200,BC012826,BM272779,BM909699,CD627424,CR591887,NM_016032 NP_001008223,CAI42905,CAI42907,CAI42069,CAI42071,EAX11822,EAX11823,EAX11824,EAX11825,BAD93044,AAD34084,BAG50857,BAA91683,BAA91740,BAG53403,CAB82308,AAQ88922,ACF60379,AAH00035,AAH03128,AAH06200,AAH12826,Q9Y397,ACE87184,ACE86503,NP_057116 Hs.193566,Hs.720113 CGI-89|CGI89|CXorf11|DHHC9|MMSA-1|MMSA1|MRXSZ|ZDHHC10|ZNF379|ZNF380 Asp-His-His-Cys domain containing protein 9|OTTHUMP00000023990|antigen MMSA-1|palmitoyltransferase ZDHHC9|zinc finger protein 379|zinc finger protein 380|zinc finger, DHHC domain containing 10|zinc finger, dhhc domain containing 9 protein-coding 1299953 ZEB1 zinc finger E-box binding homeobox 1 ZEB1 encodes a zinc finger transcription factor that represses T-lymphocyte-specific IL2 gene (MIM 147680) expression by binding to a negative regulatory domain 100 nucleotides 5-prime of the IL2 transcription start site (Williams et al., 1991 [PubMed 1840704]).[supplied by OMIM] 1580863 20452118,20514018,20418909,12714599,12937339,16385451,19153669,19584296,19754958,19935649,19997581,20036349,20175752,20375168,20424117,18029348,20970163,21067486,21079000,20731704,20980099,8138542,1840704,19225155,19208835,19194497,19177200,19147758,19116147,19116136,18984674,18829540,18622689,18487993,18483486,18467597,18411277,18376396,18321996,18199550,18172091,17936922,17935237,17610840,17486063,17437275,17391671,17081983,16952552,16804902,16252232,16203744,16087177,16061479,15384081,15302935,14965470,14702039,12743039,12743038,12477932,12163027,12161443,11760832,11275565,10359772,9724649,9418848,7935395,1427828,11810028,15674322,20935629,20729552,19921427 6935 NM_030751,NM_001128128,AL117340,AL158080,AL161935,AL355148,CH471072,AK091478,AK294775,AK296244,AK299541,AK299666,AK300830,AK307510,AK308785,AK308822,AK309331,AK309399,AK310924,AK311116,AK311137,AK311187,AK311201,AK311372,AI086650,BQ003893,BX111519,NG_017048,NM_001174093,NM_001174094,NM_001174095,NM_001174096,AK311557,AK314683,AL831979,BC009572,BC065705,BC107781,BC112392,BX647794,DB442432,DC299346,M81699,U12170 NP_110378,NP_001121600,CAI12549,CAI12550,CAI12551,CAI17319,CAI17320,CAI17321,CAH74131,CAH74132,CAI15107,CAI15108,CAI15109,EAW85989,EAW85990,BAC03673,BAG57903,BAG58962,BAG61488,BAG61580,BAG62481,NP_001167564,NP_001167565,NP_001167566,NP_001167567,BAG37235,AAH09572,AAI07782,AAI12393,AAA20602,P37275,Q13088,Q2KJ05,Q32Q63,Q5T967,Q5VZ84,Q8NB68 Hs.124503 AREB6|BZP|DELTA-EF1|DELTAEF1|FECD6|MGC133261|NIL-2-A|NIL-2A|NIL2A|TCF8|ZEB|ZFHEP|ZFHX1A OTTHUMP00000019404|OTTHUMP00000019406|delta-crystallin enhancer binding factor 1|negative regulator of IL2|transcription factor 8 (represses interleukin 2 expression)|zinc finger E-box-binding homeobox 1|zinc finger homeodomain enhancer-binding protein 1643505,1643515 BW286_H,BW287_H protein-coding 1316368 ZEB2 zinc finger E-box binding homeobox 2 The SMADIP1 gene (also known as SIP1) is a member of the delta-EF1 (ZEB1; MIM 189909)/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SMADIP1 interacts with receptor-mediated, activated full-length SMADs (see MIM 605568) (Verschueren et al., 1999 [PubMed 10400677]).[supplied by OMIM] 1599885,1580863 12746390,11477103,11592033,11279515,9853615,19486012,19336370,19215041,19183406,19006215,18829540,18411277,18376396,18259761,18182442,17958891,17932455,17855508,17585049,17360662,17203459,17060462,16688751,16568083,16532472,16273209,16061479,16053902,15742334,15489334,15384097,15231748,15121779,15026811,15006694,12920073,12743039,12743038,12477932,12451214,12175509,12161443,12149685,11891681,11595972,11448942,11430829,10400677,9628581,16169070,20585627,20634891,12714599,15342556,16344560,19706487,19842203,19931509,20074535,20145308,20219685,20375168,20379614,20424117,8889548,20551052,17082780,18029348,20682777 1599885 9839 BC025696,BC025730,BC035706,BC037975,BC060819,BC127101,BC127102,AC009951,AC010130,AY029472,CH471058,AB011141,AB015341,AB056507,AB193095,AB193096,AI858477,AK124806,AK294928,AK308124,AK308445,AL118674,NM_014795,AI341193,BP218652,BU688017,DA305985,NG_016431,NM_001171653,NR_033258,AF085983,AF161345,CR597591 AAI27102,AAI27103,O60315,Q53TD9,Q53TG0,Q60F94,Q60F95,NP_055610,AAX93269,AAX93276,AAK52081,EAX11575,EAX11576,EAX11577,BAA25495,BAA34798,BAB40819,BAD60927,BAD60928,BAH11928,NP_001165124,AAF28905 Hs.34871 FLJ42816|HSPC082|KIAA0569|SIP-1|SIP1|SMADIP1|ZFHX1B OTTHUMP00000204540|OTTHUMP00000204541|Smad-interacting protein 1|zinc finger E-box-binding homeobox 2|zinc finger homeobox 1b|zinc finger homeobox protein 1b protein-coding 2800586 ZEB2AS ZEB2 antisense RNA (non-protein coding) 18347095 100303491 AI760227,BE048858,BG054540 Hs.560789 ZEB2-AS|ZEB2AS|ZEB2NAT miscrna 1321095 ZER1 zer-1 homolog (C. elegans) 737633 17304241,15489334,15164053,12477932,11719588 737633 10444 NM_006336,AL441992,CH471090,AK314911,BC001447,BC033884,BC052563,CR605088,X99802 NP_006327,CAI15407,CAI15408,CAI15409,EAW87829,EAW87830,EAW87831,BAG37423,AAH33884,AAH52563,CAA68137,Q05BR7,Q7Z7L7 Hs.147950 C9orf60|Hzyg|RP11-545E17.4|ZYG|ZYG11BL ZYG homolog|chromosome 9 open reading frame 60|homolog of Zyg-11|protein zer-1 homolog|zyg-11 homolog B-like protein protein-coding 1605942 ZFAND1 zinc finger, AN1-type domain 1 8889548,17207965,8125298,15489334,14702039,12477932,9373149 79752 AK304111,BG618233,BQ427843,BQ435400,BU624414,BU678501,CA412820,NM_001170796,NM_001170797,NR_033193,NR_033194,NR_033195,NR_033196,NM_024699,AC132219,CH471068,AK024069,AK225195,AL833030,BC022251,BC051857,BC056877,CR457323,CR593847,CR609195,CR625306 BAG65013,NP_001164267,NP_001164268,ADQ32185,NP_078975,EAW87103,EAW87104,EAW87105,EAW87106,BAB14813,CAH56344,AAH22251,AAH51857,AAH56877,CAG33604,Q05BD2,Q8TCF1 Hs.655453 FLJ14007 AN1-type zinc finger protein 1 protein-coding 1604554 ZFAND2A zinc finger, AN1-type domain 2A 15489334,12477932,20185824 90637 NM_182491,AC091729,CH236953,CH471144,AI435373,AK027118,AK290170,BC016963,BC029558 NP_872297,EAL23939,EAW87196,EAW87197,BAF82859,AAH29558,Q8N6M9 Hs.648111 AIRAP AN1-type zinc finger protein 2A|OTTHUMP00000147551|OTTHUMP00000200091|arsenite inducible RNA associated protein protein-coding 1602437 ZFAND2B zinc finger, AN1-type domain 2B 16189514,15489334,14702039,12477932,2132133,18467495,19060904,19414486,17207965 130617 NM_138802,AC068946,CH471063,AK074571,AK091345,AK292622,AK293714,BC018415,CR625904 NP_620157,EAW70690,EAW70691,EAW70692,EAW70693,BAG51972,BAC03642,BAF85311,BAG57145,AAH18415,Q8WV99,ADQ31849 Hs.534540 AIRAPL AIRAP-like protein|AN1-type zinc finger protein 2B|OTTHUMP00000206129|OTTHUMP00000206130|OTTHUMP00000206132|OTTHUMP00000206133|arsenite inducible RNA associated protein-like|arsenite-inducible RNA-associated protein-like protein|zinc finger, AN1-type 2B protein-coding 1316115 ZFAND3 zinc finger, AN1-type domain 3 1580863 16169070,20379614,15489334,15342556,14702039,14574404,12477932,10366431,8703127,7829101 60685 AL121574,AL133377,AL589655,CH471081,NM_021943,AI817165,AK023284,AK310757,AL137302,AW023961,BC031481,BP305887,CR600723,CR617176 NP_068762,CAI20983,CAI20984,CAI42532,CAI13989,CAI13991,EAX03955,EAX03956,BAB14508,AAH31481,Q9H8U3,ABM82059,ABM85238 Hs.36959 FLJ13222|FLJ17799|TEX27 AN1-type zinc finger protein 3|OTTHUMP00000016334|OTTHUMP00000016335|OTTHUMP00000216689|testis expressed sequence 27|testis-expressed sequence 27 protein-coding 1349305 ZFAND5 zinc finger, AN1-type domain 5 1580863 16194934,15489334,15164053,14754897,12477932,9758550,16424905,19913121,20628086 7763 NM_001102421,NM_006007,NM_001102420,AF062072,AL135924,CH471089,AA837106,AF062346,AF062347,AK290849,AI379933,AK307376,AK025782,AW161082,BC011018,BC027707,BC073131,BG772839,BX489434,BX648551,BX649046,CR612072,CR619628,CR624137,CR624990 NP_001095891,NP_005998,NP_001095890,AAC61801,CAD13440,CAI16263,EAW62533,EAW62534,EAW62535,EAW62536,EAW62537,AAC42601,AAC42602,BAF83538,AAH11018,AAH27707,AAH73131,O76080,ABZ92260 Hs.406096 ZA20D2|ZFAND5A|ZNF216 AN1-type zinc finger protein 5|OTTHUMP00000021471|zinc finger A20 domain-containing protein 2|zinc finger protein 216|zinc finger, A20 domain containing 2 protein-coding 1345898 ZFAND6 zinc finger, AN1-type domain 6 737633 20581827,20889853,11230166,16189514,15698998,15489334,14702039,12477932,11256614,11054541,20549515,16169070,20379614 737633 54469 NM_019006,AC092701,CH471136,AF061739,AF261138,AJ251095,AK055881,AK312646,AL136598,BC005283,CR533476,CR606269,CR615027,CR621158,CR622869,CR623709 NP_061879,EAW99122,EAW99123,EAW99124,EAW99125,EAW99126,EAW99127,AAD17528,AAG44674,CAC14876,BAG35530,CAB66533,AAH05283,CAG38507,Q6FIF0,ABZ92339,ACE87540,ACE86853 Hs.727506 AWP1|ZA20D3|ZFAND5B AN1-type zinc finger protein 6|associated with PRK1 protein|protein associated with PRK1|zinc finger A20 domain-containing protein 3|zinc finger, A20 domain containing 3 protein-coding 1322045 ZFAT zinc finger and AT hook domain containing 1580863 20549515,20453441,19162026,18329245,15489334,15294872,14702039,12477932,10819331,20881960,20645017,11440990,19847924,20379614,8889548,20595579 57623 NM_020863,NM_001029939,AC015599,AC087045,AC135075,CH471060,AB040918,AB167738,AB167739,AB167740,AB167741,AK094089,AK300133,AK300324,AK300471,AK301413,AK311494,AL832066,BC012989,BC025423,BC039059,BC046180,BC070097,BC098405,BC101766,BC101768,BC143519,BI964061,CR609716,BM685256,DC333809,NG_016356,NM_001167583,NM_001174157,NM_001174158 NP_065914,NP_001025110,EAW92179,BAA96009,BAD12567,BAD12568,BAD12569,BAD12570,BAH13220,BAH13257,BAH13290,BAH13477,AAH12989,AAH25423,AAH46180,AAH98405,AAI01767,AAI01769,AAI43520,Q4KMQ4,Q6PJQ2,Q9P243,NP_001161055,NP_001167628,NP_001167629 Hs.446172 AITD3|KIAA1485|MGC126815|MGC126817|ZFAT1|ZNF406 ZFAT zinc finger 1|zinc finger gene in autoimmune thyroid disease|zinc finger protein 406|zinc finger protein ZFAT|zinc-finger gene in AITD susceptibility region protein-coding 2290026 ZFATAS ZFAT antisense RNA (non-protein coding) 15294872 594840 NR_002438,AC015599,AB167742 Hs.626298 NCRNA00070|SAS-ZFAT|ZFAT-AS|ZFATAS miscrna 1606690 ZFC3H1 zinc finger, C3H1-type containing 12477932,9628581,16189514,18029348 196441 NM_144982,AC073612,AC078860,CH471054,AB011118,AI015547,AK125035,BC015679,BC064336,BC073843,BX647709 EAW97260,EAW97261,EAW97262,EAW97263,EAW97264,BAA25472,BAC86028,AAH64336,AAH73843,O60293,AAI52904,AAI56733,NP_659419 Hs.527874 CCDC131|DKFZp686A0722|KIAA0546|MGC23401|MGC90200|PSRC2 coiled-coil domain containing 131|coiled-coil domain-containing protein 131|proline/serine-rich coiled-coil 2|proline/serine-rich coiled-coil protein 2|zinc finger C3H1 domain-containing protein protein-coding 1351762 ZFHX2 zinc finger homeobox 2 1580863 18029348,12477932,11214970,10737800,10470851 85446 XM_001714980,XM_001722719,AL132855,AL135999,CH471078,AB028979,AB051549,BC131533,BC144336,BC150606,XM_001720095,BI008981,AI093184,NM_033400 XP_001720147,XP_001715032,XP_001722771,EAW66142,EAW66143,EAW66144,EAW66145,BAA83008,BAB21853,AAI31534,AAI44337,Q9C0A1,NP_207646,AAI50607 Hs.508937,Hs.525247 FLJ17566|FLJ42478|KIAA1056|KIAA1762|MGC141820|ZFH-5|ZNF409 ZFH-2|zinc finger homeobox protein 2|zinc finger homeodomain protein 2|zinc finger protein 409 protein-coding 1319399 ZFHX3 zinc finger homeobox 3 2315696,2315697,2315694,2315695,1580863 1719379,10318867,19132087,19035517,18796146,18416817,18312352,17671116,17330845,17081983,16932943,16637072,16189514,15750593,15671546,15616553,14715251,14654895,12477932,10855793,10493829,9171351,8666409,7592926,11312261,19597491,19597492,20201926,20379614,20586826,20599712 2315696,2315697,2315694,2315695 463 AC116667,NM_006885,AC002044,AC004943,AC132068,AY424268,CH471166,BC029653,BC043190,D10250,L32832,NG_013211,NM_001164766 NP_008816,AAC31674,AAC79153,AAR26475,EAW59168,EAW59169,EAW59170,AAH29653,BAA01095,AAC14462,Q15911,Q6TCJ2,Q8N2Y6,NP_001158238 Hs.598297 ATBF1|ATBT|ZNF927 AT motif-binding factor 1|AT-binding transcription factor 1|ZFH-3|alpha-fetoprotein enhancer binding protein|alpha-fetoprotein enhancer-binding protein|zinc finger homeobox protein 3|zinc finger homeodomain protein 3 protein-coding 1346362 ZFHX4 zinc finger homeobox 4 1580863 18029348,18391951,16946494,14702039,12477932,11935336,10873665,16344560,20379614,19913121,20546612,20628086 79776 AC011716,AC023200,AC087110,CH471068,AB083343,AF086273,AK024633,AK095274,AK131399,AK131408,AK131462,AY260762,BC047745,BC074736,NM_024721,BC085610,BX649074,CA430749,DA658176 NP_078997,EAW87049,EAW87050,EAW87051,BAE96598,BAB14939,BAD18546,BAD18607,AAP20225,AAH47745,AAH74736,AAH85610,Q5U3C1,Q6DK57,Q6ZMW8,Q6ZN29,Q86UP3,Q86WW5,Q9H7F3 Hs.458973 FLJ16514|FLJ20980|ZFH-4|ZFH4|ZHF4 zinc finger homeobox protein 4|zinc finger homeodomain protein 4|zinc-finger homeodomain protein 4 protein-coding 1351790 ZFP1 zinc finger protein 1 homolog (mouse) 19844255,15489334,14702039,12477932,2574853 162239 NM_153688,AC009078,AC099508,CH471114,AK091562,AK094761,AK291372,AK296560,AK308134,AL038510,AL038511,AL538214,BC033774,BC064604,BC113863,BC114471,BC127184,BX647144 NP_710155,EAW95662,EAW95663,BAC04417,BAF84061,BAG59181,AAH33774,AAH64604,AAI13864,AAI14472,AAI27185,Q29RW8,Q6P2D0,AAI60028 Hs.388813 FLJ34243|ZNF475 OTTHUMP00000174939|zfp-1|zinc finger protein 1 homolog|zinc finger protein 475 protein-coding 1343281 ZFP106 zinc finger protein 106 homolog (mouse) 17081983,15656981,15635413,15489334,15302935,15231748,14702039,12477932,12434312,20379614,20936779 64397 AC012651,AF209502,CH471125,AF205632,AK024726,AK055517,AK057410,AK091929,AK127741,AK226132,AK294529,AK302735,AL831983,AL832014,AL832352,NM_022473,AL832367,AL832455,AL833301,BC014922,BC029366,BC058023,BC070244,BC111396,BX648629,CR607013,FB775578 NP_071918,AAL40184,EAW92551,EAW92552,EAW92553,EAW92554,AAG35666,BAB14976,BAB71475,BAG57738,BAG63952,CAD91134,CAD91147,CAD91149,CAD91157,CAD89926,CAD91142,AAH29366,AAH58023,AAH70244,AAI11397,Q05C49,Q0VGA6,Q86T35,Q9H2Y7,AAI56041,AAI72483,CAV30746 Hs.511143 DKFZp451A239|FLJ34610|FLJ45841|SH3BP3|ZNF474 SH3-domain binding protein 3|zfp-106|zinc finger protein 106 homolog|zinc finger protein 474 protein-coding 1313981 ZFP112 zinc finger protein 112 homolog (mouse) 1580863 15057824,14702039,12743021,12477932,16344560 7771 NM_001083335,AC084239,AC138473,CH471126,AA449338,AA913353,AF198358,AK023099,AK026230,AK130371,AL122078,AU130692,BC101753,NM_013380,BC117223,DB288887,AK302594,AK302966 NP_037512,NP_001076804,AAG23968,EAW57268,EAW57269,AAF12816,BAG51156,CAB59253,AAI01754,AAI17224,Q0VG01,Q9UFH1,Q9UJU3,BAG63846,BAG64114,ADR83281 Hs.48589 ZNF228 zfp-112|zinc finger protein 112 homolog|zinc finger protein 228 protein-coding 1605971 ZFP14 zinc finger protein 14 homolog (mouse) 10997877,12477932 57677 AL699477,H17024,NM_020917,AC092296,AB046779,AK293103,BC144691,BC152446 NP_065968,BAB13385,BAF85792,AAI52447,Q9HCL3 Hs.633122,Hs.35524 KIAA1559|ZNF531 zfp-14|zinc finger protein 14 homolog|zinc finger protein 14-like|zinc finger protein 531 protein-coding 1345499 ZFP161 zinc finger protein 161 homolog (mouse) 727770,1580863 8367294,9177479,17714511,16805315,16344560,15639979,15629158,15489334,14706637,12477932,10080939,10049742,9244432,12183049,19299493,20141036 727770 7541 NM_003409,NM_001143823,NR_026569,AP001496,CH471113,CQ834630,CQ859724,AK313236,AW338628,BC057282,BC110519,BI561601,D89859,DA817685,Y12726 NP_003400,NP_001137295,EAX01647,CAH05530,CAH25912,BAG36047,AAI10520,BAA20131,CAA73258,O43829,ABZ92244 Hs.592340 MGC126126|ZBTB14|ZF5|ZNF478 hZF5|zfp-161|zfp-5|zinc finger and BTB domain-containing protein 14|zinc finger protein 161 homolog|zinc finger protein 478|zinc finger protein 5 homolog|zinc finger protein homologous to Zfp161 in mouse protein-coding 1604799 ZFP2 zinc finger protein 2 homolog (mouse) 12477932,15231748,20211142 80108 AC104117,AC126915,AK025281,AK131367,BC132779,BC132781,BC142989,BC144213,BC144216,NM_030613 NP_085116,BAB15104,BAD18518,AAI32780,AAI32782,AAI42990,AAI44214,AAI44217,Q6ZN57,ADR82991,ADR83165 Hs.654533 FLJ21628|ZNF751 zfp-2|zinc finger protein 2 homolog|zinc finger protein 751 protein-coding 1347669 ZFP28 zinc finger protein 28 homolog (mouse) 1580863 15489334,12477932,12127974,10718198,19329283 140612 NM_020828,AC005498,AC007228,CH471135,AB037852,AF226995,AF507045,AK289583,BC028416,BC099903,BC127002,BC127003,CR749659 NP_065879,AAC32423,AAD23606,EAW72463,EAW72464,EAW72465,BAA92669,AAK28320,AAM28892,BAF82272,AAH28416,AAH99903,AAI27003,AAI27004,CAH18453,O75261,Q68CX9,Q8NHU8,Q8NHY6,Q9UQD2 Hs.14794 DKFZp686K03205|KIAA1431|MGC104540|mkr5 krueppel-like zinc finger factor X6|zfp-28|zinc finger factor X6|zinc finger protein 28 homolog protein-coding 1346211 ZFP3 zinc finger protein 3 homolog (mouse) 15342556,14702039 124961 AK125731,AK290549,BC142962,BP250703,BX647638,CR604942,NM_153018,AC012146,CH471108,AK055288 BAC86263,BAF83238,AAI42963,Q6ZUG2,Q96NJ6,AAI43074,AAI43075,NP_694563,EAW90362,BAB70898 Hs.48832 FLJ30726|ZNF752 zfp-3|zinc finger protein 3 homolog|zinc finger protein 752|zinc finger protein homologous to Zfp-3 in mouse|zinc finger protein-3 protein-coding 1605092 ZFP30 zinc finger protein 30 homolog (mouse) 15489334,12477932,10231032,7849402,16344560,19851296,20198315 22835 NM_014898,AC022148,AC093227,CH471126,AB023178,AK297301,BC041087,BC050542,DA479602,GU388430 NP_055713,EAW56743,EAW56744,EAW56745,BAA76805,BAG59769,AAH41087,Q9Y2G7,ABZ92306,ADC93803 Hs.116622,Hs.716719 KIAA0961|ZNF745 zfp-30|zinc finger protein 30 homolog|zinc finger protein 745 protein-coding 737182 ZFP36 zinc finger protein 36, C3H type, homolog (mouse) 1580863 20498646,20157568,16596264,16546352,16262601,16189514,15778452,15535838,15504035,15489334,15280467,15187101,15187092,15170914,15117938,15067324,15014438,14766228,14688255,14604009,12823857,12754205,12751757,12748283,12705825,12646273,12639954,11782475,15231747,16364915,9703499,10751406,19363120,19258311,18814951,18536977,18367721,18250465,17893259,17855506,17606294,17599736,17546847,17517366,17369404,16935542,16820934,16614304,19738286,20211142,20828164,20221403,12578839,12578825,12515557,12477932,12440952,12115244,11886850,11748221,8478004,8422274,7768935,2204625,2062660,1699942,14679154,15766526,19995385,10330172,18029348,19654331,19697322,19962963,20038433,20042592,20335167,20691152 7538 AC011500,NM_003407,AY771351,CH471126,M92844,AK314042,BC009693,CR592848,CR597101,CR597168,CR597638,CR598791,CR601007,CR603935,CR604025,CR604446,CR604736,CR604863,CR608862,CR609570,CR612171,CR615025,CR615152,CR617754,CR617965,CR618285,CR618597,CR619778,CR620077,CR620571,CR623140,CR623493,CR626033,CR626058,M63625,M92843,HI574314 NP_003398,AAV28731,EAW56885,EAW56886,AAC37600,BAG36751,AAH09693,AAA61240,AAA58489,P26651,ABZ92243,ACE87529,ACE86842,CBX47646 Hs.534052,Hs.728064 G0S24|GOS24|NUP475|RNF162A|TIS11|TTP G0/G1 switch regulatory protein 24|growth factor-inducible nuclear protein NUP475|tristetraprolin|tristetraproline|zfp-36|zinc finger protein 36|zinc finger protein 36 homolog|zinc finger protein, C3H type, 36 homolog protein-coding 732154 ZFP36L1 zinc finger protein 36, C3H type-like 1 This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq] 1580863 15489334,15465005,14702039,14604009,12477932,8898945,8346037,8024689,16169070,19092855,19801654,20190752,20702587,20166898,15467755,16189514,8595910,19417105,18418350,18326031,21102463 677 NM_004926,AL132986,CH471061,AK024202,AK294363,AK303917,BC018340,BT019468,CR592455,X79066,X79067,X99404 NP_004917,EAW80967,EAW80968,BAG51270,BAG57626,BAG64845,AAH18340,AAV38275,CAA55670,CAA67781,Q07352,ABM82275,ABM85455 Hs.707091,Hs.85155 BRF1|Berg36|ERF-1|ERF1|RNF162B|TIS11B|cMG1 EGF-response factor 1|butyrate response factor 1|early response factor Berg36|zinc finger protein 36, C3H1 type-like 1|zinc finger protein, C3H type, 36-like 1 protein-coding 1318953 ZFP36L2 zinc finger protein 36, C3H type-like 2 This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. 1580863 20506496,21151128,7835719,17172869,15489334,14981510,14604009,12477932,8889549,8545129 678 NM_006887,AC010883,CH471053,U07802,BC005010,BC020369,BE222042,BI489986,BI548620,CR614344,N67537,X78992 NP_008818,AAY14992,EAX00305,EAX00306,AAA91778,AAH05010,CAA55592,P47974,ABM84325,ABM87781 Hs.645068,Hs.705738,Hs.503093 BRF2|ERF-2|ERF2|RNF162C|TIS11D EGF-response factor 2|butyrate response factor 2|zinc finger protein 36, C3H type-like 1|zinc finger protein 36, C3H1 type-like 2|zinc finger protein, C3H type, 36-like 2 protein-coding 736935 ZFP37 zinc finger protein 37 homolog (mouse) 1580863 9585434,9535899,12477932 7539 NM_003408,AL162588,CH878453,AF022158,AK301275,BC126390,BC144145 NP_003399,CAI13578,EAW50556,AAC28425,BAG62836,AAI26391,Q9Y6Q3,ADR83336 Hs.150406 FLJ38524|ZNF906 Zinc finger protein-37, mouse, homolog of|zfp-37|zinc finger protein 37|zinc finger protein 37 homolog|zinc finger protein homologous to Zfp37 in mouse protein-coding 1349108 ZFP40 zinc finger protein 40 homolog (mouse) 7540 1606662 ZFP41 zinc finger protein 41 homolog (mouse) 14702039,12477932,11214971 286128 NM_173832,AC138696,CH471162,AK021976,AK024438,AK096024,AL831951,BC034608,CR621152 NP_776193,EAW82273,EAW82274,EAW82275,BAB15728,BAC04676,CAH10581,AAH34608,Q69YS5,Q8N8Y5,Q9H7P0 Hs.668016 DKFZp761O1618|FLJ00028|FLJ38705|ZNF753 zfp-41|zinc finger protein 41 homolog protein-coding 1606971 ZFP42 zinc finger protein 42 homolog (mouse) 14688391,18281244,16344273,17211834,16865673,15790780,15146197,14702039,12110702,20232320 132625 NM_174900,AC108073,CH471056,AF450454,AK056719,AY429593,BE301754,CN420210,CR624529 NP_777560,EAX04610,EAX04611,EAX04612,AAL47167,BAB71264,AAR07993,Q96MM3,AAI60056 Hs.335787 REX1|ZNF754 OTTHUMP00000217834|REX-1|REX1 transcription factor|hREX-1|reduced expression protein 1|zfp-42|zinc finger protein 42 homolog|zinc finger protein 754 protein-coding 1344217 ZFP57 zinc finger protein 57 homolog (mouse) 18622393,15070898,12477932,8120052,18854139,19632365,19851445 346171 NM_001109809,AL050328,AL645936,AL669813,AL929591,BX120002,BX927250,CR388408,CR759766,BC157878,BC171888,CR606639,CR936483,NG_013045 NP_001103279,CAB89275,CAI18028,CAI17624,CAI41919,CAI95569,CAQ10717,CAQ08216,CAQ06621,AAI57879,AAI71888,Q9NU63,AAI72354,CAQ10094 Hs.156326 C6orf40|TNDM1|ZNF698|bA145L22|bA145L22.2 OTTHUMP00000215586|chromosome 6 open reading frame 40|zfp-57|zinc finger protein 57 homolog|zinc finger protein 698 protein-coding 1353379 ZFP62 zinc finger protein 62 homolog (mouse) 1580863 14702039,12477932,8808410,17924679,16344560,15146197,20379614 643836 NM_152283,AC016572,AC022413,AI689837,AK002206,AK091376,AK091550,AK295714,AK303450,BC029573,BC140761,BC171780,AL832408,AI269000,DA216419,DA323041,NM_001172638 NP_689496,BAC03691,BAG58558,BAG64495,AAI40762,AAI71780,Q8NB50,CAI46133,NP_001166109 Hs.509227 DKFZp667F2013|FLJ11344|FLJ34057|FLJ34231|FLJ58781|FLJ59694|MGC176438|ZET|ZNF755 OTTHUMP00000221794|OTTHUMP00000221813|OTTHUMP00000221814|OTTHUMP00000221815|OTTHUMP00000221816|zfp-62|zinc finger protein 62 homolog protein-coding 1317439 ZFP64 zinc finger protein 64 homolog (mouse) 17362836,16189514,16169070,15489334,14702039,12477932,11780052,9373149,9034307,8125298,20306291,20211142,20531441 55734 NM_022088,NM_018197,NM_199426,AL109984,AL121771,CH471077,NM_199427,AK001596,AK001744,AK022690,AK024671,AK090547,AK222712,BC012759,BC021087,BC031524,BC041622,BT009760 Q5JWM1,Q5JWY3,Q9NPA5,Q9NTW7,CAM28264,NP_955459,NP_071371,NP_060667,NP_955458,CAB86405,CAI43095,CAI43096,CAM28324,CAM28325,CAB90276,CAB90277,CAI21788,CAI21789,EAW75590,EAW75591,EAW75593,BAA91777,BAA91876,BAB14182,BAG52182,BAD96432,AAH12759,AAH41622,AAP88762,EAW75592 Hs.473082 MGC940|ZNF338 OTTHUMP00000165904|zinc finger protein 338|zinc finger protein 64 protein-coding 1345340 ZFP82 zinc finger protein 82 homolog (mouse) 737633,1580863 15489334,14702039,12477932,11853319 737633 284406 NM_133466,AC092296,AB075828,AL834267,BC032577,AK074942,AK315709,GU388429 NP_597723,CAD38942,AAH32577,Q8N141,ABZ92158,ACE87554,ACE86866,BAB85534,BAC11308,ADC93802 Hs.558734 KIAA1948|MGC45380|ZNF545 zfp-82|zinc finger protein 545|zinc finger protein 82 homolog|zinc finger protein 85 protein-coding 1350266 ZFP90 zinc finger protein 90 homolog (mouse) 1580863 16344560,15852396,15489334,14702039,12477932,11853319,7576184,19915572,20379614,21107309 146198 NM_133458,AC009162,AC126773,CH471092,AB075834,AK056596,AK074332,AK122847,AK123121,AK126167,AK304152,AK316251,BC033165,BC040486,BC040871,BC140886,BC140887,CR593505,DA803284 NP_597715,EAW83234,EAW83235,BAB85540,BAB71228,BAG53759,BAC86467,BAG65042,BAH14622,AAH33165,AAI40887,AAI40888,Q6ZTW2,Q8TF47 Hs.461074,Hs.709017 NK10|ZNF756 zfp-90|zinc finger protein 476|zinc finger protein 756|zinc finger protein 90 homolog protein-coding 1354161 ZFP91 zinc finger protein 91 homolog (mouse) The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2 type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. A read-through transcript variant composed of ZFP91 and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. A pseudogene has also been identified on chromosome 2. [provided by RefSeq] 15009096,17081983,16582619,15489334,15302935,12738986,12477932,11483580,11361095,11058868,18029348,15342556,20434516,20682767,20804734,7835706 80829 NM_053023,AP001350,AP003557,CH471076,AB056107,AF310246,AJ270692,AK025502,BC051743,CR600105,CR612197,AI687439,AK295700,BP219969,NM_001197051 NP_444251,EAW73811,EAW73816,EAW73818,BAB63373,AAL09963,AAH51743,Q96JP5,Q96JQ9,Q9UI87,BAG58548,EAW73813,EAW73817,NP_001183980 Hs.524920,Hs.705700,Hs.670217 DMS-8|DSM-8|FKSG11|FLJ57065|PZF|ZFP-91|ZNF757 E3 ubiquitin-protein ligase ZFP91|OTTHUMP00000196612|OTTHUMP00000196613|drug resistance-associated sequence in melanoma 8|penta zinc finger protein|zfp-91|zinc finger protein 757|zinc finger protein 91 homolog|zinc finger protein homologous to Zfp91 in mouse protein-coding 1642406 ZFP91-CNTF ZFP91-CNTF readthrough transcript This gene represents a read-through transcript composed of ZFP91 and CNTF sequence. This transcript is thought to be non-coding because it would be subject to nonsense-mediated mRNA decay (NMD). Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq] 20967262,17081983,16582619,16400609,15302935,15009096,12738986,12477932,11361095,11058868,1840538 386607 NR_024091,AP001350,BG721319 Hs.524920 MGC51126 miscrna 1344727 ZFP92 zinc finger protein 92 homolog (mouse) 10854409,9099879 139735 NM_001136273,U82695 NP_001129745,A6NM28 Hs.534554 ZNF897 zfp-92|zinc finger protein 92 homolog|zinc finger protein homologous to Zfp92 in mouse protein-coding 1350269 ZFPL1 zinc finger protein-like 1 1580863 12477932,9253601,16169070,9653652,18323775,15489334,14671302,12878157,18029348 7542 NM_006782,AP003068,AY411288,CH471076,AF001891,AF030291,AF043611,AI207587,AK291964,AK295279,AK308740,AK316044,AU279924,BC012530,BC012814 NP_006773,EAW74344,EAW74345,EAW74346,AAB86533,AAF21634,AAD08644,BAF84653,BAG58263,BAH14415,AAH12530,AAH12814,O95159 Hs.98170,Hs.712317 D11S750|MCG4 zinc finger protein MCG4|zinc finger protein-like 1|zinc-finger protein in MEN1 region protein-coding 1314245 ZFPM1 zinc finger protein, multitype 1 1580863 18676680,18063754,17207461,16127162,15644435,15302935,15231747,12483298,12200364,11675338,9724649,9230307,19170196,19513100,19625176,19654328,19692168 161882 NM_153813,AC116552,AC135049,CH471184,AF488691,BE219988 NP_722520,EAW66806,EAW66807,EAW66808,AAN45858,Q8IX07 Hs.632218 FOG|FOG1|ZNF408|ZNF89A FOG-1|friend of GATA 1|friend of GATA protein 1|friend of GATA-1|zinc finger protein 89A|zinc finger protein ZFPM1 protein-coding 1314398 ZFPM2 zinc finger protein, multitype 2 The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq] 1580640,1580641 20807224,14985365,20005803,20379614,15489334,11297508,10438528,18658259,17568391,17309641,16713569,16103912,15705784,15643620,15220332,14517948,12606418,12477932,10329627,9927675,20705609 1580640,1580641 23414 NM_012082,NG_011723,AC018525,AC022721,AC041039,AC090802,AC103853,CH471060,AB073894,AF119334,AK296997,AK303058,AK316426,AL389974,AL389987,AL389988,AL389989,BC020928,BC109222,BC109223 NP_036214,EAW91899,AAD49558,BAG59535,BAG64175,BAH14797,CAB97539,CAB97540,CAB97541,AAH20928,AAI09223,AAI09224,Q32MA5,Q8WW38,Q9NPQ0 Hs.431009 DIH3|FOG2|MGC129663|MGC129664|ZNF89B|hFOG-2 FOG-2|Friend of GATA2|friend of GATA 2|friend of GATA protein 2|transcription factor GATA4, modulator of|zinc finger protein 89B|zinc finger protein ZFPM2 2315771 GLUCO144_H protein-coding 1323583 ZFR zinc finger RNA binding protein 1580863 15635413,14702039,12477932,11574164,14729963,17643375,18029348,19615732 51663 AC008949,CH471118,AF100742,AJ314790,AK025481,AK055938,AK123306,AK292214,AK295297,AK307808,AK309638,AL137258,BC017879,BC030540,BC038973,BC051893,BC062986,BC107417,BC137084,BC137085,NM_016107 NP_057191,EAX10789,EAX10790,EAX10791,AAD40385,CAC40818,BAB15147,BAG51594,BAG53886,BAF84903,BAG58279,CAB70659,AAH17879,AAH30540,AAH51893,AAH62986,AAI07418,AAI37085,AAI37086,Q05D65,Q96KR1 Hs.435231 FLJ41312|ZFR1 M-phase phosphoprotein homolog|hZFR|zinc finger RNA-binding protein protein-coding 1312353 ZFR2 zinc finger RNA binding protein 2 1580863 16344560,12477932,10470851 23217 NM_015174,NR_027149,NM_001145640,AC004598,AC005777,AC093078,AB029009,AK295037,AL365406,BC034005,CR593500,DA333602 NP_055989,NP_001139112,BAA83038,BAG58091,Q9UPR6 Hs.65750 KIAA1086 zinc finger RNA-binding protein 2 protein-coding 3277535 ZFRP1 zinc finger RNA binding protein pseudogene 1 100129438 BX119964,NG_023000 pseudo 1344344 ZFX zinc finger protein, X-linked 1580863 2105457,2500252,18029348,15302935,15060604,14660691,12477932,11214319,9364438,2512506,2497060,2308929,2041734,16344560 7543 NM_003410,AC002404,AF045780,AF045781,AF454948,AF454949,AY012072,CH471074,AB209892,AF454950,AF505615,AF505616,AF505617,AF505618,AF505619,AY072770,BC030756,BC136308,BC136309,M30608,X59738,X59739,X59740,DA848249,DA995443,NG_021253,NM_001178084,NM_001178085,NM_001178086,NM_001178095 NP_003401,AAL62492,AAC03062,AAL51082,AAL51083,AAG38815,EAW99013,EAW99014,EAW99015,EAW99016,BAD93129,AAL51084,AAM33383,AAM33384,AAM33385,AAM33386,AAM33387,AAL67136,AAI36309,AAI36310,AAA61309,CAA42416,CAA42417,CAA42418,P17010,Q59EB9,Q8NHZ1,Q8NHZ2,Q8NHZ3,Q8NHZ4,Q8NHZ5,Q8WWU0,Q8WXB7,Q8WXB8,Q8WXB9,Q9BYX9,NP_001171555,NP_001171556,NP_001171557,NP_001171566 Hs.336681 ZNF926 OTTHUMP00000023078|OTTHUMP00000023079|OTTHUMP00000023080|X-linked zinc finger protein|zinc finger X-chromosomal protein protein-coding 1347591 ZFY zinc finger protein, Y-linked This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq] 1580863 15489334,12815422,12477932,11750730,11173854,10779541,7680890,3690661,2511751,2498838,2497060,2308929,2041734,1854720,1849423 7544 NM_001145276,NM_003411,NM_001145275,NG_008113,AC006157,AF114156,X15470,AI469059,AI763177,AK301061,AK310553,AL137603,BC114526,BC114960,L10393,M30607 NP_001138748,NP_003402,NP_001138747,AAD15612,AAF21973,CAA33498,BAG62669,AAI14527,AAI14961,AAA72344,AAA61310,P08048,Q24JR0 Hs.522845 MGC138710|ZNF911 OTTHUMP00000034366|zinc finger Y-chromosomal protein protein-coding 1317194 ZFYVE1 zinc finger, FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains two zinc-binding FYVE domains in tandem. This protein displays a predominantly Golgi, endoplasmic reticulum and vesicular distribution. Alternatively spliced transcript variants have been found for this gene, and they encode two isoforms with different sizes. 16344560,11256955,11804589,11739631,15498874,15489334,14702039,12508121,12477932,11024279,10997877 53349 DB059103,NM_021260,NM_178441,AL442663,CH471061,AB046809,AF251025,AF311602,AF318319,AJ310569,AK027399,AK098542,BC014902,BC053520 NP_067083,NP_848535,EAW81084,EAW81085,BAB13415,AAG23748,AAK27339,AAL55826,CAC83950,BAB55085,AAH53520,Q9HBF4 Hs.335106 DFCP1|KIAA1589|TAFF1|ZNFN2A1 SR3|double FYVE-containing protein 1|phosphoinositide-binding protein SR3|tandem FYVE fingers-1 protein|zinc finger FYVE domain-containing protein 1|zinc finger protein, subfamily 2A (FYVE domain containing), 1|zinc finger protein, subfamily 2A, member 1 protein-coding 1348980 ZFYVE16 zinc finger, FYVE domain containing 16 The ZFYVE16 gene encodes endofin, an endosomal protein implicated in regulating membrane trafficking. It is characterized by the presence of a phosphatidylinositol 3-phosphate-binding FYVE domain positioned in the middle of the molecule (Seet et al., 2004 [PubMed 14613930]).[supplied by OMIM] 1580863 11546807,14613930,15621726,17356069,17570516,17272273,16775010,16344560,15592455,15489334,15231748,15144186,14702039,12477932,9205841,11433298,19887107 9765 AL833087,AW952550,BC030808,BC032227,BX537424,BX649172,BX956000,CR933621,DB208042,NM_001105251,NM_014733,AC008771,CH471084,AB002303,AF434817,AK090896,AK127003 BAG54419,CAD89968,AAH30808,CAD97666,CAI45932,Q7Z3T8,NP_001098721,NP_055548,EAW95850,EAW95851,BAA20764,AAL30772 Hs.482660,Hs.660410 DKFZp686E13162|ENDOFIN|KIAA0305 OTTHUMP00000222226|OTTHUMP00000222227|endosome-associated FYVE domain protein|endosome-associated FYVE-domain protein|zinc finger FYVE domain-containing protein 16 protein-coding 1345411 ZFYVE19 zinc finger, FYVE domain containing 19 1580863 17081983,16344560,15489334,14702039,12618766,12477932,9373149,8125298 84936 NM_001077268,AC012476,CH471125,AB209224,AF445414,AK027746,AK122779,AK225553,BC015738,BC021092,BI860679,CR603480,CR613477,CR614847,CR621675,CR625018,DA611931,DA653225 NP_001070736,EAW92447,EAW92448,EAW92449,EAW92450,EAW92451,EAW92452,EAW92453,EAW92454,EAW92455,BAD92461,AAO73862,BAB55338,BAG53724,AAH21092,Q59G85,Q96K21 Hs.121676 FLJ14840|MPFYVE MLL partner containing FYVE domain|zinc finger FYVE domain-containing protein 19 protein-coding 1313404 ZFYVE20 zinc finger, FYVE domain containing 20 1580863 16138080,19931244,11062261,16964243,16034420,15489334,15020713,14702039,12477932,11788822,12493736 64145 NM_022340,AC090954,CH471055,AB209673,AK054598,AK092312,AK291288,AK301735,AL833545,AY009133,BC032628,BC106940,BF513881,BX640925 NP_071735,EAW64220,EAW64221,BAD92910,BAC03860,BAF83977,BAG63200,AAG33246,AAI06941,CAE45963,Q6MZR5,Q9H1K0 Hs.475565,Hs.706478 FLJ34993|MGC126210|Rabenosyn-5 110 kDa protein|FYVE finger-containing Rab5 effector protein rabenosyn-5|FYVE-finger-containing Rab5 effector protein rabenosyn-5|OTTHUMP00000208274|OTTHUMP00000222250|rabenosyn-5|zinc finger FYVE domain-containing protein 20 protein-coding 1322277 ZFYVE21 zinc finger, FYVE domain containing 21 8889548,15489334,14702039,12524540,12477932,20439989,20601096,19773279 79038 CA311020,CX786145,NM_001198953,NM_024071,AL049840,CH471061,AK001921,AK057816,AK226142,AK290519,AY395756,BC001130,BC005999,BX248261,CR622229 NP_001185882,NP_076976,EAW81843,EAW81844,BAB71589,BAF83208,AAR14313,AAH01130,AAH05999,CAD62589,Q9BQ24 Hs.592322 MGC2550|ZF21 FYVE domain containing 21|zinc finger FYVE domain-containing protein 21 protein-coding 1317236 ZFYVE26 zinc finger, FYVE domain containing 26 This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq] 19805727,19917823,20208530,20379614,18394578,18332254,17661097,12477932,9205841,11342696 23503 NM_015346,NG_011836,AL049779,AL121595,CH471061,AB002319,AB425197,AK024743,AK128496,AK304428,AK308233,BC008927,BC013909,BC033235,BC144594,BX537886,BX538025,BX648036,BX648683,CR749276,CR749365 NP_056161,EAW80952,EAW80953,EAW80954,EAW80955,EAW80956,BAA20779,BAG11658,BAC87467,BAG65255,AAH08927,AAH33235,CAD97882,CAD97971,CAH10379,CAH18131,CAH18218,Q68DK2,Q8N4W7,Q96H43,AAI72413 Hs.98041 DKFZp686F19106|DKFZp781H1112|KIAA0321|SPG15 spastizin|zinc finger FYVE domain-containing protein 26 protein-coding 1352080 ZFYVE27 zinc finger, FYVE domain containing 27 737633 19289470,18606302,17082457,16826525,15489334,15164054,14702039,12477932,16712791,16385451 737633 118813 CB150532,NM_001002261,NM_144588,NM_001002262,AL358938,CH471066,AK057481,AK074876,AK097945,AK296295,AK296588,AK299735,AK300438,AL834235,BC030621,BF508037,BI758753,BM544601,BU838354,BX647836,CR590013,AL561314,BF063694,DC302372,NG_017075,NM_001174119,NM_001174120,NM_001174121,NM_001174122 NP_001002261,NP_653189,NP_001002262,CAI14270,CAI14271,CAI14272,EAW49895,EAW49896,EAW49897,EAW49898,EAW49899,EAW49900,EAW49901,EAW49902,BAB71506,BAC11260,BAC05200,BAH12306,BAH12390,BAH13112,BAH13285,CAD38913,AAH30621,Q5T4F4,NP_001167590,NP_001167591,NP_001167592,NP_001167593 Hs.726162 PROTRUDIN|RP11-459F3.2|SPG33 OTTHUMP00000020230|zinc finger FYVE domain-containing protein 27 protein-coding 1320885 ZFYVE28 zinc finger, FYVE domain containing 28 1580863 19460345,12477932,10997877,18482256,20379614 57732 NM_020972,AL158068,AL645924,CH471131,AB046863,AK126692,AK293775,AK294710,AK294874,AK316484,BC032605,BC035793,BC041866,BC053664,BC137309,BC137310,BM128958,NM_001172656,NM_001172657,NM_001172658,NM_001172659,NM_001172660 AAI37310,NP_066023,EAW82528,EAW82529,BAB13469,BAG54362,BAH11593,BAH11855,BAH11908,BAH14855,AAH41866,AAH53664,AAI37311,Q49AA1,Q7Z6J3,Q9HCC9,NP_001166127,NP_001166128,NP_001166129,NP_001166130,NP_001166131 Hs.292056 LYST2|MGC43699|MGC61592 OTTHUMP00000217955|OTTHUMP00000217958|hLst2|lateral signaling target protein 2 homolog|zinc finger FYVE domain-containing protein 28 protein-coding 1321999 ZFYVE9 zinc finger, FYVE domain containing 9 This gene encodes a double zinc finger (FYVE domain) protein that interacts directly with SMAD2 and SMAD3, and is involved in Alzheimer's disease. SMAD proteins transmit signals from transmembrane serine/threonine kinase receptors to the nucleus. The FYVE domain has been identified in a number of unrelated signaling molecules. This protein functions to recruit SMAD2 to the transforming growth factor-beta receptor. The FYVE domain is required to maintain the normal localization of this protein but is not involved in mediating interaction with SMADs. The C-terminal domain of this protein interacts with the TGFB receptor. This protein is a component of the TGFB pathway that brings the SMAD substrate to the receptor. Three alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq] 2298922,1580863 9865696,12809483,9582421,11100470,17693260,17356069,15613484,15489334,15356634,15231848,15231748,14759258,12477932,12432064,12154125,11877415,10615055,19620243 2298922 9372 NM_004799,NM_007324,NM_007323,AC105754,AL139156,AL513218,CH471059,AB209125,AF104304,AF130419,AF130420,BC032680 NP_004790,NP_015563,NP_015562,CAI12285,CAI12286,EAX06790,EAX06791,EAX06792,BAD92362,AAC99462,AAD31694,AAD31695,AAH32680,O95405,Q59GI4,ABW03369 Hs.532345 MADHIP|NSP|SARA|SMADIP MAD homolog interacting protein|MAD, mothers against decapentaplegic homolog interacting protein, receptor activation anchor|MADH-interacting protein|OTTHUMP00000009739|hSARA|mothers against decapentaplegic homolog interacting protein|mothers against decapentaplegic homolog-interacting protein|novel serine protease|receptor activation anchor|smad anchor for receptor activation|zinc finger FYVE domain-containing protein 9 protein-coding 4144230 ZFYVE9P1 zinc finger, FYVE domain containing 9 pseudogene 1 100289259 AL591398,NG_022707 pseudo 4888870 ZFYVE9P2 zinc finger, FYVE domain containing 9 pseudogene 2 100420972 AC068614,NG_023679 pseudo 732666 ZG16 zymogen granule protein 16 homolog (rat) 11181995,10493829,7720729,12477932,17307141,16713569,16189514,15489334,15340161 653808 NM_152338,AC002301,AC009133,CH471238,AB092813,AK125559,AK312002,BC029149,BC150656,CK904265 NP_689551,AAC08708,EAW80011,BAC20361,BAG54214,BAG34940,AAH29149,AAI50657,O60844,ABM81721,ABM84876 Hs.632195 FLJ43571|FLJ92276|JCLN|JCLN1|MGC183567|MGC34820|ZG16A|hZG16 jacalin-like lectin domain containing|secretory lectin ZG16|zymogen granule membrane protein 16 protein-coding 1605005 ZG16B zymogen granule protein 16 homolog B (rat) 16341674,15489336,15489334,12975309,16713569,19615732,19784070,16381901,12477932,19302292,16954406,11678034,11076863 124220 NM_145252,AC005361,CH471112,AK311810,AY359021,BC009722,BF446936,BM786200,BQ924772,EF067313 NP_660295,EAW85462,BAG34753,AAQ89380,AAH09722,ABM92915,Q96DA0,CAL37793,CAL38744 Hs.105887 HRPE773|JCLN2|PAUF|PRO1567 jacalin-like lectin domain containing 2|pancreatic adenocarcinoma upregulated factor|zymogen granule protein 16 homolog B protein-coding 3418338 ZGLP1 zinc finger, GATA-like protein 1 12477932,14702039,15057824,15489334,16982049 100125288 AC011511,AK096830,BC029904,BC044225,CK826281,NM_001103167 NP_001096637,P0C6A0 Hs.709296 FLJ39511|FLJ39703|GLP-1|GLP1 GATA like protein 1|GATA like protein-1|GATA-like protein 1|GATA-type zinc finger protein 1|OTTHUMP00000201203 protein-coding 1606771 ZGPAT zinc finger, CCCH-type with G patch domain 17081983,16952911,16344560,15489335,15489334,14702039,12477932,11780052,11347906,18758464,19623168,19644445,17207965,21102463,20549515,20936779 84619 NM_001083113,NM_181485,NM_032527,AL121845,CH471077,AK027878,AK074961,AK314726,BC019338,BC032612,CR593736,CR595933,CR604734,CV027894,DA252406,DA848516,DB025637,AB058750,DA055150,NM_001195653,NM_001195654 NP_001076582,NP_852150,NP_115916,CAC03670,CAI21879,CAI21880,CAI95713,EAW75220,EAW75221,EAW75222,EAW75223,EAW75224,EAW75225,EAW75226,EAW75227,EAW75228,EAW75229,BAB55426,BAC11317,AAH19338,AAH32612,Q8N5A5,BAB47476,ADQ32718,NP_001182582,NP_001182583 Hs.590868 GPATC6|GPATCH6|KIAA1847|MGC44880|RP4-583P15.3|ZC3H9|ZC3HDC9|ZIP g patch domain-containing protein 6|zinc finger CCCH domain-containing protein 9|zinc finger CCCH-type with G patch domain-containing protein|zinc finger and G patch domain-containing protein protein-coding 1346071 ZHX1 zinc fingers and homeoboxes 1 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] 19348505,20936779,10571058,12237128,17303076,17056598,16713569,16169070,15489334,15383276,15302935,15146197,14702039,14667819,12741956,12659632,12477932,12062805,10441475 11244 NM_007222,AC018992,AC068228,CH471060,AF106862,AF195766,AK025236,AK094451,AK289532,BC040481,BQ008088,CN352595,NM_001017926 NP_001017926,NP_009153,EAW92027,EAW92028,EAW92029,AAD50624,AAF35183,BAF82221,AAH40481,Q9UKY1 Hs.612084 zinc finger and homeodomain protein 1|zinc fingers and homeobox 1|zinc fingers and homeoboxes protein 1|zinc-fingers and homeoboxes 1 protein-coding 1342946 ZHX2 zinc fingers and homeoboxes 2 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq] 1299601,1580863 12741956,19240061,18194454,17447851,17056598,16952470,16713569,15489334,14659886,18029348,12477932,10048485,8051160,17533377,19805522,20080650,20379614 1299601 22882 NM_014943,AC016405,AC104316,CH471060,AB020661,AB083653,AF075099,AI334237,BC042145,BM148156 NP_055758,EAW92012,BAA74877,BAC76615,AAH42145,Q9Y6X8,ABZ92223 Hs.658443,Hs.725966 AFR1|KIAA0854|RAF AFP regulator 1|alpha-fetoprotein regulator 1|regulator of AFP|transcription factor ZHX2|zinc finger and homeodomain protein 2|zinc fingers and homeoboxes protein 2|zinc-fingers and homeoboxes 2 protein-coding 1342474 ZHX3 zinc fingers and homeoboxes 3 This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq] 1580863 12659632,18029348,17056598,16713569,15302935,14702039,14659886,12477932,12168954,11827452,11780052,9455477,8889548 23051 NM_015035,AL022394,AL031257,CH471077,AB007855,AB081948,AI754653,AK090560,AK097523,AK122905,AK292415,AW502552,BC020258,BC047070,BC068569,BI458686,BM905948,BM980061,CR598674 NP_055850,CAA18538,CAI42887,CAI42888,CAI42889,CAI42890,CAI42891,CAI42892,CAI42893,EAW75987,EAW75988,BAA23691,BAC65211,BAF85104,AAH68569,Q5JZ64,Q5JZ65,Q5JZ66,Q5JZ67,Q5JZ68,Q5JZ69,Q5JZ70,Q6NUJ7,Q9H4I2 Hs.380133 KIAA0395|TIX1 OTTHUMP00000031006|triple homeobox 1|triple homeobox protein 1|zinc finger and homeodomain protein 3|zinc fingers and homeoboxes protein 3 protein-coding 735694 ZIC1 Zic family member 1 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq] 1599905,1580863 20713527,8542595,18029348,19135984,19010793,18515550,17936758,15338008,14981711,14679585,12783990,12477932,11238441,11038359,11015565,10737800,9110174,8619474,15733262,20944657,20199689 1599905 7545 NM_003412,AC092959,CH471052,BC104848,BC104850,BF920299,U79264,NG_015886 NP_003403,EAW78915,EAW78916,AAI04849,AAI04851,Q15915 Hs.598590,Hs.647962 ZIC|ZNF201 Zinc finger protein of the cerebellum 1|zic protein member 1|zinc finger protein 201|zinc finger protein ZIC 1 protein-coding 1322491 ZIC2 Zic family member 2 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq] 1358247,1331525,1580863 13678579,12666207,12522805,11991713,11910512,11857562,11285244,11238441,11038359,10984499,8557628,18363970,20531442,9771712,19177455,19022413,18417618,17251188,15590697,15221788,15057823,14679585,19784848,20199689,20683983,19955556 1358247,1331525 7546 NM_007129,NG_007085,AL355338,CH471085,AF104902,AF188733,AF193855,AF339806 NP_009060,CAH70367,EAX09030,EAX09031,AAC96325,AAG38995,AAG28409,O95409,AAI72274 Hs.653700 HPE5 Zic family member 2 (odd-paired Drosophila homolog)|Zinc finger protein of the cerebellum 2|zinc finger protein ZIC 2 protein-coding 1347201 ZIC3 Zic family member 3 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq] 1599909,1580863 11238441,11076863,10861288,8889548,8298651,7747776,9354794,17764085,17468179,17295247,17185387,15772651,15489334,15470371,14985256,14681828,14679585,12963115,12522805,12477932,18716025 1599909 7547 NM_003413,NG_008115,AL035443,CH471150,AF028706,BC113393,BC113395,BM667189,EU532020 NP_003404,CAB41648,EAW88447,AAC05594,AAI13394,AAI13396,ACB30403,O60481,AAI11855,ADR83201 Hs.111227 HTX|HTX1|ZNF203 heterotaxy 1|zinc finger protein 203|zinc finger protein ZIC 3|zinc finger protein of the cerebellum 3 protein-coding 1316409 ZIC4 Zic family member 4 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. This gene encodes a protein of unknown function. [provided by RefSeq] 1580863 15489334,15338008,14702039,12477932,11329013,12499499,15007130,15177559,15477575,15733262,16344560,19425501 84107 NM_032153,NG_009242,AC092959,CH471052,AF332509,AK056262,AK056394,AK094286,AK124600,AK126595,AK127733,AK293981,BC029507,BC126267,BC136339,BG208324,AK294831,DA066220,DA106797,DA314072,DA416382,NM_001168378,NM_001168379,NR_033118,NR_033119 NP_115529,EAW78917,EAW78918,EAW78919,AAK06845,BAG51660,BAG51696,BAC04322,BAC86605,BAG57350,AAH29507,AAI26268,AAI36340,Q6ZTI2,Q8N9L1,BAH11898,NP_001161850,NP_001161851,ADR82934 Hs.415766 FLJ42609|FLJ45833 OTTHUMP00000215408|zinc family member 4 protein HZIC4|zinc finger protein ZIC 4|zinc finger protein of the cerebellum 4 protein-coding 1320899 ZIC5 Zic family member 5 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. [provided by RefSeq] 1580863 20199689,20683983,15465018,15146197,11044622 85416 NM_033132,AL355338,CH471085,AF378304,AI699626,CN304220,CS501444 NP_149123,CAH70366,EAX09029,AAK55418,Q96T25,CAM83951 Hs.508570 zinc family member 5 protein|zinc finger protein ZIC 5|zinc finger protein of the cerebellum 5 protein-coding 1604492 ZIK1 zinc finger protein interacting with K protein 1 homolog (mouse) 14702039,12477932,8910362 284307 AC003682,CH471135,AK092538,AK128340,BC047299,BC103957,BC103958,BC103959,NM_001010879 AAC24608,EAW72516,BAG52570,BAG54663,AAI03958,AAI03959,AAI03960,Q3SY52,NP_001010879 Hs.454830 MGC119699|MGC119700|MGC119701|ZNF762 zinc finger protein 762|zinc finger protein interacting with ribonucleoprotein K protein-coding 2801999 ZIK1P1 zinc finger protein interacting with K protein 1 homolog (mouse) pseudogene 1 100131493 AL391241,NG_023003 pseudo 1349311 ZIM2 zinc finger, imprinted 2 1580863 10708526,15489334,15203203,12477932 23619 NM_015363,NM_001146326,NM_001146327,AC006115,CH471135,AF166122,AI418432,BC104878,BC143663,BC143664,DC400394,BC104876,NG_012989 NP_056178,NP_001139798,NP_001139799,EAW72475,EAW72479,AAF61478,AAI04877,AAI04879,Q9NZV7 Hs.726173 ZNF656 zinc finger imprinted 2|zinc finger protein 656 protein-coding 1352082 ZIM3 zinc finger, imprinted 3 1580863 15489334,12477932,11543637 114026 NM_052882,CH471135,AF365931,BC069071,BC114446,BC114503 NP_443114,EAW72481,AAL11635,AAH69071,AAI14447,AAI14504,Q6NTE1,Q96PE6 Hs.348622 MGC138876|MGC138877|ZNF657 zinc finger imprinted 3|zinc finger protein 657 protein-coding 1347183 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 7557990,18029348,17081983,15489334,14702039,12693554,12690205,12477932,7486829,2288909,2014798 7586 NM_003439,AC004522,AC093619,CH236956,CH471091,AF454940,AK054676,AK074116,AK090495,AK091471,AK123012,AL833578,AY260738,BC011421,BC022378,BC112224,BC113697,BX640646,U09848,X52349 NP_003430,EAL23861,EAW76612,EAW76613,AAP97699,BAG51411,BAB84942,BAG52369,BAG53848,AAP83961,AAH11421,AAH22378,AAI12225,AAI13698,CAE45792,AAC50264,CAA36575,P17029,Q7Z4R1,Q96FA2,ABZ92438,ADR83332 Hs.615360 9130423L19Rik|KOX18|MGC138429|PHZ-37|ZNF139|ZNF36 OTTHUMP00000210080|zinc finger protein 139|zinc finger protein 36 (KOX 18)|zinc finger protein KOX18|zinc finger protein with KRAB and SCAN domains 1 protein-coding 1605808 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 16344560,14702039,12477932 342357 NM_001012981,AC008741,CH471145,AK026852,AK131342,AK302399,AK303472,BC130007,BC151139,BX648785,DB120548 NP_001012999,EAW55768,BAD18498,BAG63712,BAG64511,AAI30008,AAI51140,CAH56131,Q63HK3 Hs.513451 FLJ23199|ZNF694|ZSCAN31 zinc finger and SCAN domain containing 31|zinc finger protein 694|zinc finger protein with KRAB and SCAN domains 2 protein-coding 1313974 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 1580863 17474147,18940803,18519692,16344560,16341674,15489334,15031282,14702039,14574404,12477932,10520746 80317 NM_024493,AL021997,AL358785,CH471081,AK091225,AK122790,AK313532,BC006118,BM762243,BT007427,DB214839,DN831452,U71601 NP_077819,CAI23088,CAH71668,EAX03157,EAX03158,BAG52311,BAG53732,BAG36309,AAH06118,AAP36095,AAB16813,Q9BRR0 Hs.485004 FLJ33906|KIAA0426|ZF47|ZFP306|ZNF306|ZNF309|ZSCAN13|Zfp47|dJ874C20.1 OTTHUMP00000016204|zfp-47|zinc finger and SCAN domain-containing protein 13|zinc finger protein 306|zinc finger protein 309|zinc finger protein 47 homolog|zinc finger protein with KRAB and SCAN domains 3|zinc finger protein zfp47 protein-coding 1319105 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 737633,1580863 19008334,17910948,15489334,14702039,14574404,12477932 737633 387032 NM_019110,AL022393,CH471081,AK056698,AK302017,AK315783,AY781778,BC014031,CR625010 NP_061983,CAC69823,EAX03142,EAX03143,EAX03144,BAB71258,BAH13609,BAG38129,AAV41023,AAH14031,Q969J2,Q96MM8,ABM86659,ABW03500 Hs.44720 FLJ32136|P1P373C6|ZNF307|ZNF427|p373c6.1 p373c6.1 (novel C2H2 type zinc finger protein)|zinc finger protein 307|zinc finger protein 427|zinc finger protein with KRAB and SCAN domains 4 protein-coding 1322493 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain. A similar protein in mouse is differentially expressed in spermatogenesis. Two alternatively spliced transcript variants differing only in the 5' UTR have been described. Additional variants have been found, but their full-length sequences have not been determined. [provided by RefSeq] 1580863 10585779,16344560,16314882,14702039,12853948,12690205,12477932,10231032,8889548 23660 NM_145102,NM_014569,NG_000004,AC005020,AC073063,CH236956,CH471091,AB023232,AF170025,AK027714,AK096552,BC030790,BX648490,CA311067,DA044307,DA580238,DA773579 NP_659570,NP_055384,AAS02018,EAL23873,EAW76654,EAW76655,EAW76656,EAW76657,EAW76658,BAA76859,AAF24219,BAG51370,BAG53320,AAH30790,Q75MV2,Q8N718,Q9Y2L8,ABZ92473 Hs.110839 FLJ39233|KIAA1015|MGC33710|ZFP95|ZNF914 OTTHUMP00000210525|zfp-95|zinc finger protein 95 homolog|zinc finger protein 95 homolog (mouse)|zinc finger protein homologous to Zfp95 in mouse|zinc finger protein with KRAB and SCAN domains 5 protein-coding 1345896 ZMAT1 zinc finger, matrin type 1 16344560,18029348,14702039,12477932,11347906,8889549 84460 NG_016330,Z68326,DA824319,NR_036431,NM_001011657,CH471115,Z68868,Z69304,AA101301,AB058692,AK094141,AK296520,AL831883,BC028029,BC045706,BC140920,BC152470,AA459272 NP_001011657,EAX02897,CAI42751,CAI42009,BAB47418,BAG59151,CAD38564,AAI40921,AAI52471,Q5H9K5 Hs.496512 KIAA1789|MGC176597|MGC176728 zinc finger matrin-type protein 1|zinc finger, matrin type 1 protein-coding 1353598 ZMAT2 zinc finger, matrin type 2 737633,1580863 17207965,15635413,15489334,14702039,12477932 737633 153527 NM_144723,AC116353,CH471062,AK055683,BC056668,CR598999,CR606569,CR617130,CR619696,CR625164 ADQ32190,NP_653324,EAW62016,EAW62017,EAW62018,BAB70983,AAH56668,Q96NC0 Hs.350194 FLJ31121|Snu23|hSNU23 OTTHUMP00000223673|zinc finger matrin-type protein 2|zinc finger, matrin type 2 protein-coding 1602466 ZMAT3 zinc finger, matrin type 3 This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq] 19127773,18519039,16844115,14702039,12477932,12196512,11689294,11571644,19394292,20962082,9400996,17207965,16344560,19805223 64393 NM_022470,NM_152240,AC117456,CH471052,AF355465,AK022358,AK122768,AY037945,BC002896,AK056245,BC036485,CR620949,DA001239 NP_071915,NP_689426,EAW78424,EAW78425,EAW78426,AAK83287,BAB14020,BAG53718,AAK71491,AAH02896,Q9HA38,ADQ31910 Hs.371609 FLJ12296|FLJ31683|MGC10613|PAG608|WIG-1|WIG1 OTTHUMP00000211907|WIG-1/PAG608 protein|p53 target zinc finger protein|p53-activated gene 608 protein|zinc finger matrin-type protein 3|zinc finger protein WIG-1|zinc finger protein WIG1|zinc finger, matrin type 3 protein-coding 1606216 ZMAT4 zinc finger, matrin type 4 17903298,14702039,12477932 79698 NM_024645,NM_001135731,AC018796,AC048387,AC104864,CH471080,AK023904,BC019598 NP_078921,NP_001129203,EAW63263,EAW63264,EAW63265,BAB14719,AAH19598,Q9H898 Hs.591850 FLJ13842 zinc finger matrin-type protein 4|zinc finger, matrin type 4 protein-coding 1607019 ZMAT5 zinc finger, matrin type 5 15146077,18029348,15489334,15461802,12477932,9847074,7566098 55954 NM_001003692,NM_019103,AC004882,CH471095,AA312132,AK292671,AL160311,BC009717,BG285784,BK005198,BU598307,CR456353,CR457393 NP_001003692,NP_061976,EAW59837,EAW59838,BAF85360,CAB77284,AAH09717,DAA05496,CAG30239,CAG33674,Q9UDW3,CAK54494,CAK54793,ACE87322,ACE86640 Hs.713647 U11/U12 small nuclear ribonucleoprotein 20 kDa protein|U11/U12 snRNP 20 kDa protein|U11/U12 snRNP 20K|U11/U12-20K|zinc finger matrin-type protein 5|zinc finger, matrin type 5 protein-coding 1323172 ZMIZ1 zinc finger, MIZ-type containing 1 12477932,12421765,10737800,10574462,9110174,8889548,8619474,14702039,14609956,16385451,18711365,19525953,19795399,19879194,19915574,19929986,20159969,20190752,20379614,20473688,21102463,18007576,17967885,17584785,17512505,16777850,20453838,20526339 57178 AF357909,NM_020338,AL356753,AL358782,AL391665,CH471083,AB033050,AF070622,AK023603,AK024490,AK025812,AL049432,AL539520,AY235683,BC007288,BC025342,BC035890,BC049845,BC068072,BC117687,BE082814,BX644960,CD657106,CF137779,CF264960 AAQ15173,NP_065071,CAI40993,EAW54639,EAW54640,EAW54641,EAW54642,EAW54643,EAW54644,BAA86538,BAB15780,AAP13542,AAH07288,AAH25342,AAI17688,Q149N7,Q9H7J0,Q9ULJ6,AAI72361 Hs.193118 FLJ13541|KIAA1224|MIZ|RAI17|TRAFIP10|ZIMP10|Zimp10|hZIMP10 FLJ00092 protein|RP11-519K18.1|retinoic acid induced 17|zinc finger MIZ domain-containing protein 1|zinc finger-containing, Miz1, PIAS-like protein on chromosome 10 protein-coding 1605930 ZMIZ2 zinc finger, MIZ-type containing 2 ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM] 16051670,16189514,15489334,14702039,12853948,12690205,12477932,11572484,11230166,9853615,9847074,17584785,20159969 83637 NM_031449,NM_174929,AC004859,AC013436,CH236960,CH471128,AB015330,AB067473,AK057115,AK057378,AK090415,AK090841,AK097263,AK128359,AK301932,AL136572,AL831933,AY426594,BC008049,BC016968,BC021924,BC110435,BC131780,BI115680,CD367243,AF357908 NP_113637,NP_777589,AAP22367,AAP22368,EAL23750,EAW61083,EAW61084,EAW61085,BAA34789,BAB67779,BAC03396,BAG52237,BAG63352,CAB66507,CAH56269,AAR85526,AAH21924,AAI10436,AAI31781,Q8NF64,Q96HV3,AAQ15172 Hs.77978,Hs.600681 DKFZp761I2123|KIAA1886|NET27|TRAFIP20|ZIMP7|hZIMP7 OTTHUMP00000208713|OTTHUMP00000208715|OTTHUMP00000208716|PIAS-like protein Zimp7|zinc finger MIZ domain-containing protein 2 protein-coding 1313677 ZMPSTE24 zinc metallopeptidase (STE24 homolog, S. cerevisiae) This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq] 1599910,1580863 14702039,10373325,18029348,19383993,19351612,18435794,18230615,17352743,17152860,16710414,16671095,16344560,16303743,16297189,15843403,15671064,15489334,15317753,12913070,12477932,10076063,9700155,20635340,19913121,20628086,19453269,19645629,19680556,19841875,20101687,20550970 1599910 10269 NM_005857,NG_008695,AL050341,CH471059,CQ782720,CQ782995,AA436253,AB016068,AF064867,AI003768,AK027874,AK074784,AK075007,BC037283,DB285015,Y13834 CAF85955,NP_005848,CAB81610,EAX07233,EAX07234,CAF86212,BAA33727,AAC68866,BAG51388,BAG52049,AAH37283,CAB46277,O75844,ABW03708,ABW03365 Hs.132642,Hs.721062 FACE-1|FACE1|FLJ14968|HGPS|PRO1|STE24|Ste24p CAAX prenyl protease 1 homolog|Hutchinson-Gilford progeria syndrome|farnesylated proteins-converting enzyme 1|farnesylated-proteins converting enzyme 1|prenyl protein-specific endoprotease 1|zinc metalloproteinase Ste24 homolog protein-coding 1315977 ZMYM1 zinc finger, MYM-type 1 737633 16710414,14702039,12477932 737633 79830 AL607089,CH471059,AK026804,AK096206,AK125741,AK308655,BC037313,BX537537,BX648307,CD683862,CR936813,NM_024772,AK299779 NP_079048,CAI12901,CAI12902,CAI12903,EAX07427,EAX07428,EAX07429,EAX07430,EAX07431,BAB15558,BAG54241,CAD97777,Q5SVZ6,Q5SVZ7,Q5SW02,BAG61661 Hs.471243 FLJ23151|FLJ43753|MYM|RP11-181E22.4 OTTHUMP00000004598|OTTHUMP00000004600|OTTHUMP00000004601|zinc finger MYM-type protein 1|zinc finger, MYM domain containing 1 protein-coding 1317868 ZMYM2 zinc finger, MYM-type 2 1580863 15975576,19506298,19658100,20379614,20936779,9425908,9576949,18806873,17471537,17389761,17027752,16964243,16381901,15588942,15489336,15489334,15302935,15231748,15057823,14651998,12776193,12594223,12493763,12477932,11256614,11230166,11076863,10643154,10480903,9889006,9716603,9694738,9499416,8889548 7750 NM_003453,NM_197968,AJ007676,AL137119,AL138688,CH471075,AF012126,AF035374,AF060181,AJ224901,AK226118,AK289741,AK302917,AK310505,AL136621,BC036372,BI460760,BM724534,BX643074,BX647944,BX648905,Y13472,NG_023348,NM_001190964,NM_001190965,CR620979 NP_003444,NP_932072,CAA07604,CAH70133,CAH70134,CAH70135,CAH71822,CAH71823,EAX08243,EAX08244,EAX08245,EAX08246,EAX08247,EAX08248,AAC01561,AAB88464,AAC23591,CAA12204,BAF82430,BAG64082,CAB66556,AAH36372,CAH56193,CAA73875,Q5W0Q3,Q5W0T3,Q9UBW7,CAL38411,CAL38487,ACE87240,ACE86558,NP_001177893,NP_001177894 Hs.594828 FIM|MYM|RAMP|SCLL|ZNF198 OTTHUMP00000018086|OTTHUMP00000018088|fused in myeloproliferative disorder|fused in myeloproliferative disorders protein|rearranged in an atypical myeloproliferative disorder|rearranged in atypical myeloproliferative disorder protein|zinc finger MYM-type protein 2|zinc finger protein 198 protein-coding 1350026 ZMYM3 zinc finger, MYM-type 3 1580863 10486218,18029348,17081983,15790807,15489334,15302935,12838571,12493763,12477932,10662551,9205841,8817323,16344560,8889548 9203 NM_005096,NM_201599,AL590762,CH471132,AB002383,AK290762,AY927528,BC013009,BC069057,BT007095,CR595912,CR612319,CR614980,CR621521,X95808,CB305871,DA331402,DA539831,NG_016407,NM_001171162,NM_001171163 NP_005087,NP_963893,EAX05301,EAX05302,EAX05303,BAA20839,BAF83451,AAH13009,AAH69057,AAP35759,CAA65075,Q14202,Q96E26,NP_001164633,NP_001164634 Hs.522684 DXS6673E|KIAA0385|MYM|XFIM|ZNF198L2|ZNF261 OTTHUMP00000023514|OTTHUMP00000023518|zinc finger MYM-type protein 3|zinc finger protein 261 protein-coding 1319940 ZMYM4 zinc finger, MYM-type 4 1580863 10486218,15302935,12477932,12356764,9455477,8889548,18806873,19615732,10449923 9202 CH471059,AB007885,AK308320,AK309705,BC012093,BC127113,BC127114,BG499626,BU683493,BX647376,BX648067,CD653525,CR594772,CR936741,NM_005095,AL160000,AL356362,AL590434 EAX07417,EAX07418,EAX07419,BAA24855,AAH12093,AAI27114,AAI27115,Q5VZL5,NP_005086,CAH71313,CAI22686,CAI22687,CAI22691,CAI12468 Hs.269211 CDIR|DKFZp686B09210|DKFZp686L0547|KIAA0425|MYM|ZNF198L3|ZNF262 OTTHUMP00000004429|cell death inhibiting RNA|zinc finger MYM-type protein 4|zinc finger protein 262 protein-coding 1343268 ZMYM5 zinc finger, MYM-type 5 1580863 15489334,15057823,12477932,11042152,10894931,17126306,20036849,15231748 9205 NM_001142684,NM_001039649,NM_001039650,AL354808,AL355001,CH471075,AF161535,AJ133352,AJ133353,AJ133354,AJ133355,AK312724,BC007048,BI561630,BT006687,BU853478,BX647750 NP_001136156,NP_001034738,NP_001034739,CAI16180,CAI16181,EAX08235,EAX08236,EAX08237,EAX08238,EAX08239,EAX08240,EAX08241,AAF29022,CAB57262,CAB57263,CAB57264,CAB57265,BAG35598,AAH07048,AAP35333,Q9UJ78 Hs.530988 HSPC050|MYM|ZNF198L1|ZNF237 OTTHUMP00000018081|zinc finger MYM-type protein 5|zinc finger protein 198-like 1|zinc finger protein 237 protein-coding 1345857 ZMYM6 zinc finger, MYM-type 6 1580863 10486218,15489334,14702039,12477932,10718198,11884399,11282025,18029348,19615732 9204 BC007070,BC033903,BC043174,BC068534,BC107880,BC117463,BT007117,AC114490,AL607089,CH471059,AA846430,AB037774,NM_007167,AK000927,AK092067,AK299293,AK301461,AK310703,AK310938,AL389985,AL705390,AL832911,AL833263,AV734109 AAH33903,AAH68534,AAI07881,AAI17464,AAP35781,O95789,Q7L9K1,NP_009098,CAI12897,CAI12898,CAI12899,EAX07433,BAA92591,BAA91430,BAG61308,BAG62982,CAH10638 Hs.533986,Hs.623978 Buster2|MYM|ZNF198L4|ZNF258 OTTHUMP00000219405|zinc finger MYM-type protein 6|zinc finger protein 258|zinc finger, MYM-type containing 6 protein-coding 1351816 ZMYND10 zinc finger, MYND-type containing 10 1580863 16189514,11256614,18616639,16641997,16381901,15540210,15489336,15489334,15122337,14702039,12794757,12629521,12477932,11230166,11085536,11076863,9373149,8125298,20394502 51364 AC002481,CH471055,AB209621,AK058135,AK093455,AK096525,AK223343,AK308086,AK315123,NM_015896,AL833828,BC022186,BC033732,BE500984,CR591482,CR615130,U70824,U70880 NP_056980,AAB67311,EAW65103,EAW65104,EAW65105,BAD92858,BAG53316,BAD97063,CAD38688,AAH33732,AAC24726,AAC24728,O75800,Q53FE6,Q59F40,CAL37695,CAL38065 Hs.526735,Hs.627171 BLU|FLU OTTHUMP00000210881|protein BLu|zinc finger MYND domain-containing protein 10|zinc finger, MYND domain containing 10|zinc finger, mynd domain containing 10 protein-coding 1606319 ZMYND11 zinc finger, MYND domain containing 11 The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] 7621829,17721438,16565076,16382137,16344560,16300738,15231748,15164054,14651845,12894593,12477932,11733528,11148209,10734313,9663660,8889548,12659632,20425112,17567985,20211142,11244510,18029348,19766626,19795416,20138174 10771 NM_006624,NM_212479,NM_001161482,AL589988,AL603831,AL713922,AL731539,CH471072,AI031881,AK294469,AK294781,AK296427,AK296518,AK312570,AY732489,BC012586,BC034784,BC091489,BU680177,CB241408,CF137216,CR619559,DB236591,DC376390,DQ335452,DQ335453,DQ335454,DQ335455,X86098,AI244299,BP873033,DB521520,NM_001202464,NM_001202465,NM_001202466,NM_001202467,NM_001202468 NP_006615,NP_997644,NP_001154954,CAH69845,CAH69846,CAI40899,CAQ09250,EAW86539,EAW86540,EAW86541,EAW86542,BAH11779,BAH11882,BAH12348,BAH12377,BAG35465,AAV33128,AAH12586,AAH34784,AAH91489,ABC72408,ABC72409,ABC72410,ABC72411,CAA60052,Q15326,Q2LD45,Q2LD46,Q2LD47,Q2LD48,Q5BJG6,Q5UGI2,Q5VUI0,Q6PJR5,Q8N4B3,ABM82243,ABM85427,NP_001189393,NP_001189394,NP_001189395,NP_001189396,NP_001189397 Hs.292265 BRAM1|BS69|MGC111056|RP11-486H9.1 BS69 variant 1|BS69 variant 2|BS69 variant 3|BS69 variant 4|OTTHUMP00000018935|OTTHUMP00000018936|OTTHUMP00000018937|OTTHUMP00000197455|OTTHUMP00000197456|adenovirus 5 E1A binding protein|adenovirus 5 E1A-binding protein|bone morphogenetic protein receptor-associated molecule 1|zinc finger MYND domain-containing protein 11|zinc finger, MYND domain containing 11 protein-coding 1316209 ZMYND12 zinc finger, MYND-type containing 12 12477932,11230166,11256614,15489334,14702039,16710414 84217 NM_032257,NM_001146192,AL445669,AL513331,CH471059,AK057384,AK301839,AL136858,BC024186,BQ441452 NP_115633,NP_001139664,CAH70745,CAH70660,EAX07159,EAX07160,BAB71461,BAG63282,CAB66792,AAH24186,Q9H0C1,ABM82548,ABM85739,ACE87264,ACE86579 Hs.294009 DKFZp434N2435 zinc finger MYND domain-containing protein 12|zinc finger, MYND domain containing 12|zinc finger, mynd domain containing 12 protein-coding 1320408 ZMYND15 zinc finger, MYND-type containing 15 1580863 12477932,11230166 84225 NM_032265,NM_001136046,AC091153,CH471108,AK302181,AK310469,AL136893,BC067296,BC090874 NP_115641,NP_001129518,EAW90414,EAW90415,BAG63547,CAB66827,Q9H091 Hs.47223 DKFZp434N127 zinc finger MYND domain-containing protein 15|zinc finger, MYND domain containing 15 protein-coding 1319740 ZMYND17 zinc finger, MYND-type containing 17 15146197,12477932,16385451 118490 NM_001024593,AL353731,CH471083,AK096884,AK309870,BC094693,BC109255,BC109256,BX500736,BX537678,CN395159,CR936824 NP_001019764,CAI52491,EAW54495,BAC04883,AAH94693,AAI09256,AAI09257,CAD97808,Q4VC12 Hs.631823 FLJ39565 OTTHUMP00000019816|zinc finger MYND domain-containing protein 17|zinc finger, MYND domain containing 17|zinc finger, mynd domain containing 17 protein-coding 1353400 ZMYND19 zinc finger, MYND-type containing 19 ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM] 1580863 12477932,12208518,18029348,16189514,16039987,15489334 116225 NM_138462,AL365502,CH471090,AJ298882,BC012948,BU147462 NP_612471,CAI14585,EAW88402,CAC16691,AAH12948,Q96E35,ABM85574 Hs.128096 MIZIP|RP11-48C7.4 MCH-R1-interacting zinc finger protein|melanin-concentrating hormone receptor 1 interacting zinc-finger protein|melanin-concentrating hormone receptor 1-interacting zinc finger protein|zinc finger MYND domain-containing protein 19|zinc finger, MYND domain containing 19|zinc finger, mynd domain containing 19 protein-coding 1319938 ZMYND8 zinc finger, MYND-type containing 8 The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq] 1580863 16713569,15302935,15231748,15095401,14702039,15489334,12477932,11780052,11149944,11003709,10574461,10469140,9373149,8125298,12775419,16147992,19913121,20628086,17081983,16565076 23613 AB032951,AF144233,AF233453,AF273045,AF454056,AK000275,AK001175,AK026151,AK074262,AK098067,AK122966,AK225857,AK294511,AK295747,AK299899,AK309228,AL137703,BC030721,BC092432,BC136608,BC144289,BC146802,BI553958,BX641005,CR606493,DQ082998,DQ082999,DQ368669,DQ368670,DQ368671,DQ368672,DQ368673,DQ368674,DQ368675,DQ368676,DQ368677,DQ368678,DQ368679,DQ368680,U48251,NM_012408,NM_183047,NM_183048,AL031666,AL049540,AL390212,CH471077 EAW75709,EAW75710,EAW75711,EAW75712,EAW75713,EAW75714,EAW75715,BAA86439,AAF06063,AAF71262,AAG34905,AAL50790,BAG53824,BAH11794,BAH12176,BAH13166,CAI46211,AAH30721,AAH92432,AAI36609,AAI44290,AAI46803,CAE46008,AAY85630,AAY85631,ABC86680,ABC86681,ABC86682,ABC86683,ABC86684,ABC86685,ABC86686,ABC86687,ABC86688,ABC86689,ABC86690,ABC86691,AAC72244,Q2HXV1,Q2HXV2,Q2HXV3,Q2HXV4,Q2HXV5,Q2HXV7,Q2HXV8,Q2HXV9,Q2HXW0,Q2HXW1,Q2HXW2,Q569J9,Q5JV90,Q5TH07,Q5TH08,Q5TH11,Q5TH12,Q9P1C2,Q9UKN6,Q9ULU4,EAW75708,NP_036540,NP_898868,NP_898869,CAI21839,CAI21840,CAI21842,CAI21843,CAI21844,CAI23168,CAI23169,CAI20088,CAI20089,EAW75703,EAW75704,EAW75705,EAW75706,EAW75707 Hs.446240,Hs.658553,Hs.668465 MGC31836|PRKCBP1|PRO2893|RACK7 CTCL tumor antigen se14-3|CTCL-associated antigen se14-3|OTTHUMP00000043384|OTTHUMP00000214693|OTTHUMP00000214694|OTTHUMP00000214695|OTTHUMP00000214761|cutaneous T-cell lymphoma associated antigen se14-3|cutaneous T-cell lymphoma-associated antigen se14-3|predicted protein of HQ2893|protein kinase C binding protein 1|protein kinase C-binding protein 1|protein kinase c binding protein 1|zinc finger MYND domain containing protein 8|zinc finger MYND domain-containing protein 8 protein-coding 1343481 ZNF1 zinc finger protein 1 (A11-500) 7548 1342937 ZNF10 zinc finger protein 10 The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. 1580863 15489334,12477932,11405226,10748030,9278146,9016654,8262519,7865130,7649249,2288909,2014798,18029348 7556 NM_015394,AC026786,CH471218,AI972895,AK314784,AL110188,BC024182,BE895826,X52332 NP_056209,EAW54790,EAW54791,EAW54792,BAG37318,CAB53668,AAH24182,CAA36558,P21506,Q9UG14,ABZ92247 Hs.507355 KOX1 zinc finger protein 10|zinc finger protein 10 (KOX 1)|zinc finger protein KOX1 protein-coding 1354323 ZNF100 zinc finger protein 100 737633,1580863 16344560,15489334,15146197,12477932,8467795 737633 163227 NM_173531,AC092364,CH471106,AK126551,AK308798,BC031248,BC035579,BX640982,CN302052,DA241750 NP_775802,EAW84905,EAW84906,AAH31248,AAH35579,CAE45992,Q4G131,Q6MZN6,Q8IYN0 Hs.365142 FLJ44587 zinc finger protein 100|zinc finger protein 100 (Y1) protein-coding 1350989 ZNF101 zinc finger protein 101 737633,1580863 20864672,17081983,16189514,14727140,14702039,12477932,11441184,8467795,19060911 737633 94039 NM_033204,AC011458,CH471106,AK097169,AL096747,AY149174,BC011502,BC094808,BC119680,BC119681 NP_149981,EAW84855,EAW84856,EAW84857,BAG53429,CAB46422,AAN46749,AAH11502,AAH94808,AAI19681,Q504T0,Q8IZC7,Q9Y4S0 Hs.631642 DKFZp570I0164|HZF12|MGC149565|MGC149566 zinc finger protein 101|zinc finger protein 101 (Y2)|zinc finger protein 12|zinc finger protein HZF12 protein-coding 1344186 ZNF107 zinc finger protein 107 (Y8) 7660 1354481 ZNF108P zinc finger protein 108 pseudogene 8467795 7661 NG_009580,AC068764 ZNF108 pseudo 1351865 ZNF114 zinc finger protein 114 8467795,12477932 163071 NM_153608,AC008392,CH471177,CQ783060,AK075062,AK291575,BC014935,BC016811,BC034032,BC050996,BC125068,BC125069 NP_705836,EAW52326,CAF86265,BAC11378,BAF84264,AAH34032,AAI25069,AAI25070,Q8N4J1,Q8NC26 Hs.511883 MGC149700|MGC17986 zinc finger protein 114|zinc finger protein 114 (Y18) protein-coding 1344106 ZNF114P1 zinc finger protein 114 pseudogene 1 387493 1348531 ZNF115 zinc finger protein 115 (Y20) 7668 1350257 ZNF116 zinc finger protein 116 (Y21) 7669 1343353 ZNF117 zinc finger protein 117 1580863 2023909,2505992,12477932,2115127,1427907,20379614 51351 NM_015852,NG_006928,AC073210,AF075025,BC034021,CR608597,M27879,M55422,M61867 NP_056936,AAG41761,AAA36010,AAA58666,Q03924,AAI56437,AAI72492 Hs.250693 H-plk|HPF9|MGC22613 Krueppel-related zinc finger protein|provirus-linked krueppel|zinc finger protein 117|zinc finger protein 117 (hpf9)|zinc finger protein HPF9 protein-coding 1345056 ZNF11A zinc finger protein 11a (KOX 2) 1580863 8464732 7557 P17013 X68686 1351916 ZNF11B zinc finger protein 11b (KOX 2) 1580863 1639412 7558 Q06732 NM_006955,AJ491697 1349914 ZNF12 zinc finger protein 12 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq] 1580863 2288909,2026422,16806083,14702039,12477932,7865130 7559 NM_006956,AC073343,CH236963,CH878731,AB021643,AF505656,AI879099,AK022691,AK055709,AK293925,AY500354,BC051892,BC137068,BC137069,BC144465,BC154414,BX114779,BX640749,CR618686,CR620647,X52334,NM_016265 NP_057349,NP_008887,EAW55012,EAW55013,EAW55014,EAW55015,EAW55016,BAA86989,AAM28195,BAB14183,BAG57306,AAS55104,AAI37069,AAI37070,AAI54415,CAE45857,CAA36560,P17014,Q6N016,Q6RFS4 Hs.431471 GIOT-3|HZF11|KOX3|ZNF325 OTTHUMP00000200756|OTTHUMP00000200757|gonadotropin inducible transcription repressor 3|gonadotropin-inducible ovary transcription repressor 3|zinc finger protein 11|zinc finger protein 12|zinc finger protein 325|zinc finger protein KOX3 protein-coding 1342983 ZNF121 zinc finger protein 121 15146197,12934113,8468057 7675 NM_001008727,AC008567,AC008759,CH471106,M99593,AK297919,AU253046,CN360954,CN360955 P58317,AAI72258,AAI72553,NP_001008727,EAW84042,BAG60237 Hs.501537 D19S204|ZHC32|ZNF20 zinc finger protein 121|zinc finger protein 121 (clone ZHC32)|zinc finger protein 20 protein-coding 1346874 ZNF123P zinc finger protein 123 pseudogene 1580863 1992479,1339395 100188891 S52506,AP002886,NG_008436 AAB24880 HZF-1|ZNF123 pseudo 1314784 ZNF124 zinc finger protein 124 1580863 7916577,16710414,15489334,14702039,12477932 7678 NM_003431,AL390728,CH471148,AK054647,AK131017,BC013605,BC032514,BC096349,BC096350,BC096351,BC099661,S54641 Q15973,Q5T2V5,NP_003422,CAI14563,CAI14564,EAW77169,BAG51405,AAH96349,AAH96350,AAH96351,AAH99661,AAB25346,AAB25347 Hs.421238,Hs.655205,Hs.726182 HZF-16|HZF16|MGC117046 zinc finger protein 124|zinc finger protein HZF-16 protein-coding 1354391 ZNF125 zinc finger protein 125 1580863 1339395 7679 S52508 AAB24882,P35274 HZF-3|HZF3 protein-coding 1352717 ZNF126 zinc finger protein 126 1580863 1339395 7680 S52507 AAB24881,P35275 HZF-2|HZF2 protein-coding 1349875 ZNF127AS zinc finger protein 127 antisense 10196367,10196367,16344560,19844787,9237260 10108,10108 DA753755 Hs.628878 FNZ127|MKRN3-AS|MKRN3AS|NCRNA00009|ZNF127AS miscrna 1347064 ZNF13 zinc finger protein 13 (KOX 5) 1580863 7560 P17016 X52336 1353025 ZNF131 zinc finger protein 131 1580863 7557990,18847501,17306895,15489334,15372022,14702039,12477932,12163020 7690 NM_003432,AC106800,CH471119,AK057343,AK307963,AK307974,AK307977,AK310735,BC017923,BC035875,U09410,AK299315 NP_003423,EAW56047,EAW56048,BAG51904,AAH35875,AAC50251,P52739,BAG61325,EAW56046 Hs.535804 pHZ-10 OTTHUMP00000221617|OTTHUMP00000221618|OTTHUMP00000221620|OTTHUMP00000221621|zinc finger protein 131|zinc finger protein 131 (clone pHZ-10) protein-coding 1350451 ZNF132 zinc finger protein 132 1580863 19023099,7557990,17975119,14702039,12477932 7691 NM_003433,AC012313,CH471135,AK057460,AK313895,BC109107,BC109108,BQ774411,U09411 NP_003424,EAW72590,EAW72591,BAG51916,BAG36618,AAI09108,AAI09109,AAC50252,P52740,ABZ92444 Hs.156169 MGC126390|MGC126391|pHZ-12 zinc finger protein 132 protein-coding 1343941 ZNF133 zinc finger protein 133 1580863 7557990,9278146,18029348,17934332,16344560,15489334,14578011,12477932,11780052,7649249 7692 NM_003434,NM_001083330,AL049646,CH471133,AK123005,AK291389,AK294263,AK295273,AK295513,AK313525,BC001887,BT007310,DB270242,AK316386 NP_003425,NP_001076799,CAC15508,CAI21832,CAI21833,CAI21834,CAI21835,EAX10249,EAX10250,EAX10251,EAX10252,EAX10253,BAF84078,BAG57556,BAG58259,BAG58430,AAH01887,AAP35974,P52736,Q5JXV9,Q5JXW0,BAH14757 Hs.472221 ZNF150|pHZ-13|pHZ-66 OTTHUMP00000063118|OTTHUMP00000063119|OTTHUMP00000063121|zinc finger protein 133|zinc finger protein 133 (clone pHZ-13)|zinc finger protein 150 (pHZ-66) protein-coding 1352509 ZNF134 zinc finger protein 134 1580863 7557990,12477932,18029348 7693 NM_003435,AC003682,CH471135,AK291763,BC011646,BC021280,BC042636,BC112294,BC113410,U09412 NP_003426,AAC24610,EAW72518,BAF84452,AAH11646,AAH21280,AAH42636,AAI12295,AAI13411,AAC50253,P52741,Q5U5N5,Q6PJ68,Q6PJU4,ABZ92445,ACE87645,ACE86954,ADR83158 Hs.469694 MGC138499|MGC141970|pHZ-15 zinc finger protein 134|zinc finger protein 134 (clone pHZ-15) protein-coding 1349048 ZNF135 zinc finger protein 135 1580863 7557990,16344560,15146197,14702039,12477932,8478004,1946370,1505991 7694 NM_003436,U09413,AC008751,CH471135,M88370,AK094202,AK095796,AK098011,AK295110,AK297226,AL833637,BC046434,BX647775,CN367970,DA232862,DB117846,DB304820,X65231,NM_001164527,NM_001164529,NM_001164530,NM_007134 EAW72552,NP_003427,EAW72553,EAW72554,EAW72555,EAW72556,AAA61328,BAC04309,BAC05214,BAG58141,BAG59709,AAH46434,AAC50254,CAA46338,P52742,Q15933,Q15936,Q8N1I7,Q8N9M3,NP_001157999,NP_001158001,NP_001158002,NP_009065 Hs.85863 ZNF61|ZNF78L1|pHZ-17|pT3 OTTHUMP00000218800|OTTHUMP00000218803|OTTHUMP00000218804|zinc finger protein 135|zinc finger protein 135 (clone pHZ-17)|zinc finger protein 61|zinc finger protein 78-like 1 (pT3) protein-coding 1345728 ZNF136 zinc finger protein 136 1580863 7557990,19060904,16344560,16189514,15489334,14702039,12477932,7865130,7649249 7695 AC022415,CH471106,AK123008,NM_003437,AC012618,BC006421,BQ574220,U09367,AK291242,AK299601,DB200139,DB369850,AY500356 EAW84264,NP_003428,AAH06421,AAC50261,P52737,Q6RFS2,BAF83931,BAG61532,AAS55106 Hs.479874 pHZ-20 OTTHUMP00000209871|zinc finger protein 136 protein-coding 1345314 ZNF137 zinc finger protein 137 1580863 7557990,15489334,12477932 7696 NR_023311,AC022150,BC110455,BC110456,BM988340,BQ893730,U09414 AAC50255 Hs.373648 MGC119990|MGC119991|ZNF137|pHZ-30 pseudo 1353909 ZNF138 zinc finger protein 138 1580863 20379614,7557990,16344560,14702039,12477932,8889549 7697 NM_006524,NM_001160183,NR_027660,NR_027661,AC073349,CH471204,AA114243,AK027335,AK055644,AK294302,AK298230,AL597519,BC037426,BC067817,BC131762,BC141847,DB208290,U09847 NP_006515,NP_001153655,EAW77979,EAW77980,EAW77981,EAW77982,EAW77983,BAG51547,BAG57583,BAG60499,AAI31763,AAC50263,P52744 Hs.184080 pHZ-32 zinc finger protein 138|zinc finger protein 138 (clone pHZ-32) protein-coding 1351207 ZNF14 zinc finger protein 14 The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. [provided by RefSeq] 1580863 18981223,8262519,7649249,2288909,12477932,16341674 7561 NM_021030,AC011458,AC104523,CH471106,AA286756,AB021644,AK074832,AV726241,AW675436,BC136323,BE392040,BM836276,CA414092,CD358782,X52337,FB659866 NP_066358,EAW84858,BAA86990,AAI36324,CAA36563,P17017,CAS01787 Hs.659932 GIOT-4|KOX6 gonadotropin inducible transcription repressor-4|gonadotropin-inducible ovary transcription repressor 4|zinc finger protein 14|zinc finger protein 14 (KOX 6)|zinc finger protein KOX6 protein-coding 1351095 ZNF140 zinc finger protein 140 1580863 7557990,14702039,12477932,7649249 7699 NM_003440,AC026786,AC073911,CH471218,AK122741,AK296572,AK303240,AK313145,BC022291,BC040561,BM477600,CR601967,U09368 NP_003431,EAW54794,EAW54795,EAW54796,EAW54797,EAW54798,BAG53698,BAG59192,BAG64326,BAG35963,AAH22291,AAH40561,AAC50262,P52738 Hs.181552 pHZ-39 zinc finger protein 140 protein-coding 1353813 ZNF141 zinc finger protein 141 1580863 8268908,16344560,15489334,12477932,9671765 7700 NM_003441,AC079140,AC092574,CH471131,BC036854,BC057244,BC074853,DA385292,L15309 NP_003432,AAY41036,EAW82669,EAW82670,EAW82671,AAH74853,AAC37529,Q15928,Q4W5N2 Hs.654355 D4S90|pHZ-44 OTTHUMP00000216730|OTTHUMP00000216731|zinc finger protein 141|zinc finger protein 141 (clone pHZ-44) protein-coding 1320100 ZNF142 zinc finger protein 142 1580863 7557990,17081983,14702039,12477932,9039502,8889548,16730941,20379614,20936779 7701 NM_001105537,AC012510,AC079810,CH471063,AK095027,BC033631,BC038226,BC053849,BM719343,D87073,U09849 NP_001099007,EAW70630,EAW70631,EAW70632,EAW70633,BAA13242,AAC50265,P52746 Hs.657969 pHZ-49 HA4654|OTTHUMP00000206541|zinc finger protein 142|zinc finger protein 142 (clone pHZ-49) protein-coding 1313824 ZNF143 zinc finger protein 143 1580863 9009278,9566884,17938208,17707600,17478512,17297437,15489334,14702349,12477932,11724783,9776743,9705341,7641696,7557990,20116366,20860770 7702 NM_003442,AC127030,AC132192,AJ277546,AJ295844,CH471064,AF071771,AK291133,AK297214,AK313330,BC014458,BC020219,AW162015,BG825506 NP_003433,CAC14172,CAC17610,EAW68589,AAC96102,BAF83822,BAG59697,AAH20219,P52747,Q9H176,Q9H4D4,ABZ92446 Hs.523471 SBF|STAF|pHZ-1 OTTHUMP00000195125|OTTHUMP00000195129|SPH-binding factor|hStaf|selenocysteine tRNA gene transcription-activating factor|transcriptional activator Staf|zinc finger protein 143 protein-coding 1342677 ZNF146 zinc finger protein 146 1580863 8665923,8107129,18029348,16344560,15881673,15838871,15489334,15146197,15057824,12754738,12477932,11306801,10449921,9935176,8641144 7705 NM_007145,NM_001099638,NM_001099639,AC012617,AJ011806,AI039686,AK311486,AK313460,BC005154,BC065568,BC110500,BC110501,CN409203,DA177508,DA395000,DA645504,DA806687,DB068031,DR155969,X70394 NP_009076,NP_001093108,NP_001093109,CAB41967,AAI10501,AAI10502,CAA49844,Q15072 Hs.643436 MGC125660|MGC125661|OZF only zinc finger protein|zinc finger protein OZF protein-coding 732332 ZNF148 zinc finger protein 148 1580863 9685330,8355710,18029348,19362768,19275880,18496767,18250154,17940278,17663720,17560543,17019648,16964243,16827139,16825291,16517939,16384873,16344560,15489334,15302935,15175029,14963412,14712222,12759240,12477932,12393719,11416144,10899165,10727401,10359087,9925940,9457682,9144414,8943318,7557990,12771217,19583777,19875459,20379614 7707 NM_021964,AC108688,CH471052,U96633,AA481164,AF039019,AF432210,AJ236885,AK314203,AL833616,BC016316,BC018971,BC035591,BC050260,BC128582,BQ441085,DA492993,DA726996,DN994032,DQ090088,L04282,U09851 NP_068799,EAW79394,EAW79395,EAW79396,EAW79397,EAW79398,AAB57692,AAC39926,AAL99917,CAA15422,BAG36879,AAH18971,AAH35591,AAH50260,AAY99631,AAA36664,AAC50267,Q12900,Q15552,Q4FD37,Q6PJ98,Q8IWK7,Q8TDH4,Q9UQR1 Hs.592591 BERF-1|BFCOL1|HT-BETA|ZBP-89|ZFP148|pHZ-52 CACCC box-binding protein|CLL-associated antigen KW-10|OTTHUMP00000215375|OTTHUMP00000215396|transcription factor ZBP-89|zinc finger DNA-binding protein 89|zinc finger protein 148 protein-coding 1347937 ZNF150 zinc finger protein 150 (pHZ-66) 7708 1349269 ZNF154 zinc finger protein 154 1580863 7557990,16344560,15146197,14702039,12477932 7710 NM_001085384,AC003006,AC004017,CH471135,AB095924,AI949650,AK092261,BC152404,BC152426,BC152561,CN280337,DB162039,U20648 NP_001078853,EAW72526,EAW72527,BAC23100,BAC03839,AAI52405,AAI52427,AAI52562,AAC50257,Q13106,AAI60120 Hs.646378,Hs.649031 MGC176628|MGC176661|pHZ-92 zinc finger protein 154 protein-coding 1352629 ZNF155 zinc finger protein 155 1580863 17220478,7557990,18029348,15489334,15057824,14702039,12743021,12477932,8617494 7711 NM_003445,NM_198089,AC006213,AC018725,CH471126,U46188,U46190,AF187986,AK022875,AK297360,AK297384,AK314510,BC075050,BC075051,BC126377,BC130381,BQ893627,U09852 NP_003436,NP_932355,AAF18684,EAW57238,EAW57239,EAW57240,AAB03530,AAB03532,AAF04102,BAB14287,BAG59807,BAG59825,BAG37110,AAH75050,AAH75051,AAI26378,AAI30382,AAC50268,Q12901,Q16646,Q9H9E2,ABZ92447 Hs.502127 MGC161655|pHZ-96 KRAB A domain|zinc finger protein 155 protein-coding 1344228 ZNF157 zinc finger protein 157 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. [provided by RefSeq] 1580863 8586441,18029348,15772651,15489334,12477932,11944989,20395239 7712 NM_003446,AL590223,AL591503,CH471164,BC075003,CO245585,U28687 NP_003437,CAC88160,CAI41199,EAW59299,AAH75003,AAA97578,P51786,ABZ92448 Hs.89897 HZF22 zinc finger protein 157|zinc finger protein 22|zinc finger protein HZF22 protein-coding 1343254 ZNF158 zinc finger protein 158 (HZF23) 7713 1350528 ZNF159 zinc finger protein 159 (F11) 7714 1342906 ZNF16 zinc finger protein 16 The protein encoded by this gene contains a C2H2 type of zinc finger, and thus may function as a transcription factor. This gene is located in a region close to ZNF7/KOX4, a gene also encoding a zinc finger protein, on chromosome 8. Two alternatively spliced variants, encoding the same protein, have been identified. 1580863 15489334,14702039,12477932,11054286,9373149,8125298,7486829,2288909 7564 NM_006958,NM_001029976,AF235103,CH471162,AF244088,AK096815,AK127625,AK226016,AL834451,BC010996,CR623646,DQ117529,X52340 Q45SH7,Q8ND22,Q9NRA4,NP_008889,NP_001025147,EAW82027,EAW82028,AAF75235,BAG54536,CAD39111,AAH10996,AAZ20773,CAA36566,P17020 Hs.493225 KOX9 zinc finger protein 16|zinc finger protein 16 (kox 9)|zinc finger protein KOX9 protein-coding 1602451 ZNF160 zinc finger protein 160 The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Three alternative transcripts encoding the same protein have been described. [provided by RefSeq] 11410164,16344560,14702039,12477932,11214971,10997877,7865130,7774943,19846881 90338 NM_033288,NM_001102603,NM_198893,AC010328,CH471135,AB046831,AF027144,AF277623,AK024442,AK024789,BC000807,BC012054,BC094880,BF570224,BU430880,CR749613,DA230397,DB078640,X77744,X78928 NP_150630,NP_001096073,NP_942596,EAW72110,EAW72111,EAW72112,EAW72113,EAW72114,BAB13437,AAB84023,AAK61306,BAB15732,AAH00807,AAH94880,CAH18407,CAA55528,O14889,Q68D23,Q9BVY9,Q9HCG1 Hs.655967 DKFZp686B16128|F11|FLJ00032|HKr18|HZF5|KIAA1611|KR18 KRAB zinc finger protein KR18|zinc finger protein 160|zinc finger protein 5|zinc finger protein HZF5|zinc finger protein Kr18 protein-coding 1346697 ZNF164 zinc finger protein 164 7717 1342847 ZNF165 zinc finger protein 165 This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. 1580863 10567577,8673473,16189514,15489334,14574404,12477932,11076058,9244436,7490084 7718 NM_003447,AL121944,CH471081,U88083,U88084,U88085,U88086,AK292371,AL546097,AL583605,AY083664,AY366500,BC026092,BC037779,U78722,X84801 NP_003438,CAB92080,EAX03131,AAD04755,BAF85060,AAM08933,AAQ73196,AAH26092,AAH37779,AAC51658,CAA59268,P49910,Q53Z40,Q8IY56,ABZ92449 Hs.535177 CT53|LD65|ZSCAN7 OTTHUMP00000016195|cancer/testis antigen 53|zinc finger and SCAN domain-containing protein 7|zinc finger protein 165 protein-coding 1313155 ZNF167 zinc finger protein 167 16189514,15489334,14702039,12477932,7814019,1946370,1505991 55888 NM_018651,AC099669,CH471055,M88372,M88373,AF075093,AF154846,AK022800,AK291285,AY280798,BC010555,BC063020,BC120982,BC120983,BC127639,BC127640,BC148260,NM_025169,CR592545,L32164 NP_079445,NP_061121,EAW64711,AAA61330,AAA61331,AAF72104,BAB14250,BAF83974,AAQ16302,AAH10555,AAH63020,AAI20983,AAI20984,AAI27640,AAI27641,AAI48261,AAA36818,Q0VAN9,Q0VAP0,Q15918,Q16524,Q9H9H9,Q9P0L1,AAI66704 Hs.529512,Hs.696570 FLJ12738|ZFP|ZKSCAN7|ZNF448|ZNF64 OTTHUMP00000209707|zinc finger protein 167|zinc finger protein 448|zinc finger protein 64|zinc finger protein with KRAB and SCAN domains 7 protein-coding 1312178 ZNF169 zinc finger protein 169 1580863 12477932,9722951,9186526,9071574,17567985,16344560,14702039 169841 NM_194320,AL691447,CH471089,U28251,U28322,AK093956,AK122832,AK289742,BC011947,BC019228,BC035060,BC047702,BP873364,DA490480 NP_919301,CAI13276,EAW62878,EAW62879,EAW62880,EAW62881,EAW62882,AAA70188,AAA70187,BAF82431,AAH11947,AAH19228,AAH35060,AAH47702,Q14928,Q14929,Q5SR55,Q6PIG1,Q6PJ92,Q7Z761,CAM16531 Hs.387623 MGC51961 zinc finger protein 169 protein-coding 1343220 ZNF17 zinc finger protein 17 16344560,15057824,14702039,11853319,2288909,2115127,2014798 7565 NM_006959,AC003002,CH471135,AB075827,AK097123,AK098183,AK127948,AK128471,DA476988,DA746547,X52341 NP_008890,EAW72500,BAB85533,BAC04956,BAC05252,BAG54604,BAG54682,CAA36567,P17021,AAI52893,ABZ92248 Hs.126905 FLJ40864|FLJ46058|FLJ46615|HPF3|KIAA1947|KOX10 zinc finger protein 17|zinc finger protein 17 (HPF3, KOX 10)|zinc finger protein HPF3|zinc finger protein KOX10 protein-coding 1353933 ZNF170 zinc finger protein 170 (clone 164) 7723 1346136 ZNF171 zinc finger protein 171 (clone 165) 7724 1343184 ZNF172 zinc finger protein 172 (clone 130) 7725 1322583 ZNF174 zinc finger protein 174 1580863 15629724,10567577,7673192,18029348,16344560,15592455,15489334,12477932,11741982,8889548,17207965 7727 NM_003450,AC025283,CH471112,AF542096,BC000876,BC001161,BI918471,BM969505,BT006923,CR590935,DA962432,U31248,NM_001032292 NP_001027463,NP_003441,EAW85368,AAN40766,AAH00876,AAH01161,AAP35569,AAB04897,Q15697,Q8IZN5,ADQ31653 Hs.155204 ZSCAN8 AW-1|zinc finger and SCAN domain-containing protein 8|zinc finger protein 174 protein-coding 1346277 ZNF175 zinc finger protein 175 1580863 20379614,20936779,8838321,18029348,19247725,19034670,19034669,18776638,18773297,15489334,15081264,15057824,14688346,12477932,1602151,20211142 7728 NM_007147,AC018755,AC020914,CH471135,CQ840917,AI221738,AK292687,BC007778,BC052997,BX474148,D50419,FB353527 NP_009078,AAF87843,EAW72029,EAW72030,CAH05700,BAF85376,AAH52997,BAA23362,Q9Y473,CAR82349 Hs.119014 OTK18 zinc finger protein 175|zinc finger protein OTK18 protein-coding 1344072 ZNF176 zinc finger protein 176 7729 1353253 ZNF177 zinc finger protein 177 1580863 8661005,15489334,12477932,11549323,15342556,16344560 7730 NM_003451,AC011451,CH471106,AK302274,BC012012,U37263,DA338574,BP260204,BX114567,DA494894,NM_001172651 NP_003442,EAW84031,BAG63619,AAH12012,AAB09749,Q13360,ABZ92255,NP_001166122 Hs.172979 PIGX zinc finger protein 177 protein-coding 1351304 ZNF178 zinc finger protein 178 7731 1312982 ZNF18 zinc finger protein 18 18029348,16120570,15702252,15489334,14702039,12477932,2288909,2014798 7566 NM_144680,AC005410,CH471108,AK057783,AK092656,AK127908,AY491053,BC036096,CR591820,X52342 NP_653281,EAW89977,BAB71570,BAC03939,BAG54597,AAS67595,AAH36096,CAA36568,P17022,Q96LU8,ABZ92437 Hs.370473 HDSG1|KOX11|ZKSCAN6|ZNF535|Zfp535 heart development-specific gene 1 protein|heart development-specific protein|zinc finger protein 18|zinc finger protein 18 (KOX 11)|zinc finger protein 18 (kox 11)|zinc finger protein 535|zinc finger protein KOX11|zinc finger protein with KRAB and SCAN domains 6 protein-coding 1348239 ZNF180 zinc finger protein 180 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM] 1580863 18957941,15057824,14702039,12743021,12477932,8914611 7733 NM_013256,AC069278,CH471126,AF192913,AI472318,AK024047,AK122688,AK315193,BC033642,BC051903,BC113015,DB496139 NP_037388,AAF71790,EAW57274,EAW57275,EAW57276,EAW57277,EAW57278,EAW57279,AAF07950,BAG53668,BAG37633,AAH33642,AAI13016,Q58F03,Q9UJW8,ABZ92257 Hs.22305 HHZ168 zinc finger protein 180 protein-coding 1350016 ZNF181 zinc finger protein 181 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM] 15489334,12477932,8914611 339318 NM_001029997,NM_001145665,AC020910,AI800428,AK295492,AK297316,BC043228,BC104759,BC143441,BC143442,CR624408,DC299701,DC304794 NP_001025168,NP_001139137,BAG58413,BAG59781,AAH43228,AAI04760,AAI43443,Q2M3W8 Hs.720472 HHZ181|MGC44316 OTTHUMP00000212232|zinc finger protein 181|zinc finger protein 181 (hhz181) protein-coding 1342789 ZNF182 zinc finger protein 182 1580863 15489334,15146197,14702039,12477932,8914609,8088786,2288909,2014798 7569 NM_001007088,NM_006962,CH471164,Z98304,AK097687,AK122874,AK130362,AK299325,AW291763,BC106875,BC114216,BX537686,BX648401,CD642892,CN311292,X52345,DC377274,NG_021254,NM_001178099 NP_001007089,NP_008893,EAW59334,EAW59335,EAW59336,CAC41951,CAM28265,BAG53772,BAG61332,AAI06876,AAI14217,CAA36571,P17025,Q96QH7,ABZ92249,NP_001171570 Hs.189690 HHZ150|KOX14|MGC125383|MGC131713|ZNF21|Zfp182 OTTHUMP00000179115|zinc finger protein 182|zinc finger protein 21 (KOX 14)|zinc finger protein 21 (kox 14)|zinc finger protein KOX14 protein-coding 1347344 ZNF182L zinc finger protein 182-like (HHZ150) 7736 1312451 ZNF184 zinc finger protein 184 1580863 9073517,18029348,14702039,12477932,8889548,20211142,16344560,19571809 7738 NM_007149,AL021918,AL031118,CH471081,AK123011,AK131264,AK312804,BC022992,BM675205,DB090589,U66561 NP_009080,CAA17278,EAX03099,EAX03100,BAD18442,BAG35662,AAH22992,AAC51180,Q6ZND3,Q99676,ABZ92258 Hs.158174 OTTHUMP00000016181|zinc finger protein 184|zinc finger protein 184 (Kruppel-like) protein-coding 1352809 ZNF185 zinc finger protein 185 (LIM domain) ZNF185 encodes a LIM-domain zinc finger protein. These proteins are thought to be involved in protein-protein interactions.[supplied by OMIM] 1580863 9268636,18029348,16799630,15731117,14702039,12873976,10854409,16344560 7739 CH471172,AK056517,AK095258,AK296967,AK301530,AK304323,AY997296,BQ923456,BX537525,BX640940,DQ508022,DQ508023,DQ508024,DQ508025,DQ508026,Y09538,NM_007150,DA882423,DC305824,DC347990,NG_021255,NM_001178106,NM_001178107,NM_001178108,NM_001178109,NM_001178110,NM_001178113,NM_001178115 CAA70733,O15231,Q6MZQ8,Q7Z3Q8,Q8N1R8,AAI67865,NP_009081,EAW72893,EAW72894,EAW72895,EAW72896,BAG51736,BAC04511,BAG59511,BAH13507,BAG65173,AAY54245,CAD97773,CAE45970,ABF57657,ABF57658,ABF57659,ABF57660,ABF57661,NP_001171577,NP_001171578,NP_001171579,NP_001171580,NP_001171581,NP_001171584,NP_001171586 Hs.16622 P1-A|zinc finger protein 185 protein-coding 1345585 ZNF187 zinc finger protein 187 1580863 1569959,16344560,14702039,12477932 7741 NM_001023560,NM_152736,NM_001111039,AL021997,CH471081,AJ420533,AK095948,AK315645,AL526328,AL832741,BC013951,BC013962,BX537535,CR612460,CR613008,CR616851,CR618009,DA167287,DA566660,DC353668,Z11773,AK293524,AK295393,AK297613,AK301081 NP_001018854,NP_689949,NP_001104509,EAX03147,EAX03148,EAX03149,EAX03150,BAG53173,BAG38012,CAI46119,AAH13951,AAH13962,CAD97775,CAA77818,Q16670,ABZ92450,BAG57006,BAG58347,BAG59993,BAG62685 Hs.157883 MGC2815|SRE-ZBP|ZSCAN26 zinc finger and SCAN domain-containing protein 26|zinc finger protein 187 protein-coding 1344066 ZNF187P1 zinc finger protein 187 pseudogene 1 387050 1348960 ZNF188 zinc finger protein 188 7742 1315167 ZNF189 zinc finger protein 189 1580863 9653648,15489334,15164053,12477932,10415338,8889548,16341674,16712791,20634891 7743 NM_197977,NM_003452,AF025772,AL353621,CH471105,AF025770,AF025771,AK290163,AK313655,AL046790,BC065718,BC092425,BC126120,BC143876,BC143877,BM820380,BM996467,BX497070,BX497641,CB162392,CB851970,CD518756,U75454,U95991,U95992,AK308935 O75820,NP_932094,NP_003443,AAD50527,AAD50528,CAI14611,CAI14612,CAI14613,EAW58949,EAW58950,AAC39799,AAC39800,BAF82852,BAG36409,AAH92425,AAI26121,AAI43877,AAI43878,AAC39798,AAC25909,AAC25910,Q5T7D8 Hs.50123 zinc finger protein 189 protein-coding 1349877 ZNF19 zinc finger protein 19 The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. [provided by RefSeq] 1580863 7557990,16344560,15489334,14702039,12477932,8889548,2288909,1946370,1505991,17207965 7567 NM_006961,AC010547,CH471166,M77171,AK055567,AK057330,AK292260,AK311003,AL834237,BC047091,BM981699,DB079697,X52343 NP_008892,EAW59232,AAA36814,BAB70957,BAB71430,BAF84949,CAD38915,AAH47091,CAA36569,P17023,ADQ32955 Hs.660076 KOX12|MGC51021 zinc finger protein 19|zinc finger protein 19 (KOX 12)|zinc finger protein KOX12 protein-coding 1319074 ZNF192 zinc finger protein 192 1580863 10567577,18029348,15489334,14574404,12477932,10737800,9244436,8673473,18482256 7745 NM_006298,AL358933,CH471081,U88078,U88079,U88080,AA453245,AB208793,AK302402,BC096282,BC096283,BC096284,BC113961,BC130032,BC152378,BQ327604,U57796 NP_006289,CAC15901,EAX03135,EAX03136,AAC51656,BAD92030,BAG63713,AAH96282,AAH96283,AAH96284,AAI13962,AAI30033,AAI52379,AAB02260,Q15776,Q59HG5 Hs.57679 LD5-1|ZKSCAN8 zinc finger protein 192|zinc finger protein with KRAB and SCAN domains 8 protein-coding 1347085 ZNF193 zinc finger protein 193 1580863 10567577,16189514,15489334,14574404,20211142,12477932,9373149,9244436,8125298 7746 NM_006299,AL022393,CH471081,U88081,U88082,AK226035,AY261373,AY550973,BC010374,CR619676,U62392,AU310237,NM_001199479,NM_001199480,AK304013 NP_006290,CAA18533,EAX03140,EAX03141,AAC51661,AAP94876,AAT52219,AAH10374,AAC51659,O15535,ABZ92451,ACE87728,ACE87046,NP_001186408,NP_001186409,BAG64928 Hs.100921 PRD51|ZSCAN9 cell proliferation-inducing gene 12 protein|cell proliferation-inducing protein 12|zinc finger and SCAN domain-containing protein 9|zinc finger protein 193 protein-coding 1350446 ZNF194 zinc finger protein 194 7747 1352529 ZNF195 zinc finger protein 195 1580863 9344677,16344560,14702039,12477932,7959730,1602151 7748 AF003540,AK095720,AK131296,AK290099,AK293679,AK308024,AK308068,AK308209,AL833722,BC121028,BC121029,DA765121,NM_007152,NM_001130519,NM_001130520,AC123788,CH471158,AB209664 BAD92901,AAB86596,BAG53114,BAD18466,BAF82788,BAG57121,CAH56261,AAI21029,AAI21030,O14628,Q59EZ7,NP_009083,NP_001123991,NP_001123992,EAX02548,EAX02549 Hs.386294 DKFZp666D035 OTTHUMP00000013403|zinc finger protein 195 protein-coding 1350640 ZNF196 zinc finger protein 196 7749 1353796 ZNF197 zinc finger protein 197 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Two alternatively spliced transcripts encoding different isoforms have been described. 1580863 8353497,12682018,12477932,9380504,7814019 10168 NM_001024855,NM_006991,AC099669,CH471055,AF011573,AK314196,AY074878,AY261677,AY279353,BC017584,BC031209,CR610755,CR624024,L32163,Z21707 NP_001020026,NP_008922,EAW64714,AAB84385,BAG36875,AAL79677,AAP57399,AAQ62850,AAH17584,AAA36817,CAA79814,O14709,Q07644,Q15917,Q4G1C8,Q7Z6G1,Q86VG0,AAI67827 Hs.157035 D3S1363E|P18|VHLaK|ZKSCAN9|ZNF166|ZNF20 OTTHUMP00000164119|VHL-associated KRAB-A domain-containing protein|zinc finger protein 166|zinc finger protein 197|zinc finger protein 20|zinc finger protein with KRAB and SCAN domains 9 protein-coding 1348645 ZNF199 zinc finger protein 199 7751 1320138 ZNF2 zinc finger protein 2 1580863 1945843,15815621,15489334,14702039,12477932,10575230,8183940 7549 NM_021088,NM_001017396,AC092835,CH471219,AK055072,AK290798,AK295739,AK299058,AK315762,AK315829,BC005068,BC009976,CR622702,CR749650,X60152,X60154 NP_066574,NP_001017396,AAX88982,EAX10715,EAX10716,BAF83487,BAG58576,BAG61127,BAG38115,BAF98720,AAH05068,AAH09976,CAH18444,CAB52138,Q68CY6,Q9BSG1 Hs.590916 A1-5|ZNF661|Zfp661 zinc finger protein 2|zinc finger protein 2 (a1-5)|zinc finger protein 2.2|zinc finger protein 661 protein-coding 1349406 ZNF20 zinc finger protein 20 1580863 16344560,14702039,12697996,12477932,8262519,2288909,16169070,10567577 7568 NM_021143,AC022415,CH471106,AK023094,AK096560,AL080125,AU152520,BC036714,BC045814,X52344 NP_066966,EAW84260,BAB14401,CAB45723,AAH36714,AAH45814,CAA36570,P17024,Q86XA2,Q9H942 Hs.709334 FLJ39241|KOX13 OTTHUMP00000209847|zinc finger protein 20|zinc finger protein 20 (kox 13)|zinc finger protein KOX13 protein-coding 1349966 ZNF200 zinc finger protein 200 1580863 17584299,16344560,14702039,12477932,9787081,9653642,9288094,8401585 7752 NM_198088,NM_198087,NM_001145446,NM_001145447,NM_001145448,AJ003147,CH471112,NM_003454,AA338573,AB209219,AF060866,AK056010,AK315036,BC012909,BC025293,BC032575,BC054005,BI459882,BI822625,BU177850,CD697565,CR609782,DA757518,DB031650,Y14443 NP_003445,NP_932354,NP_932353,NP_001138918,NP_001138919,NP_001138920,CAA05905,EAW85384,EAW85385,EAW85386,EAW85387,EAW85388,EAW85389,BAD92456,AAC70008,BAG51603,AAH12909,AAH25293,AAH32575,AAH54005,CAA74795,P98182,Q59G90,Q7Z5V1,ABZ92259 Hs.632222 MGC45293 zinc finger protein 200 protein-coding 1353784 ZNF202 zinc finger protein 202 1580863 10748193,9790754,19336475,18652945,18523156,16467280,16415175,16289551,15489334,14702039,12477932,12444922,11279031,10747874,10508479,16189514,19875103,19913121,20628086 7753 NM_003455,AJ276177,AP000868,CH471065,DQ093962,AF027218,AF027219,AF155101,AK023751,AK226047,AL162031,BC013382,BC113104 NP_003446,CAC21447,EAW67553,EAW67554,AAY88738,AAC79940,AAC79941,AAD42867,BAG51223,CAB82384,AAH13382,O95125,Q9Y5A5 Hs.112556 ZKSCAN10 zinc finger protein 202|zinc finger protein with KRAB and SCAN domains 10 protein-coding 1347057 ZNF204 zinc finger protein 204 pseudogene 16344560,12477932,9628832 7754 NR_002722,NR_024553,AL021808,AL031118,CH471081,AF033199,AK296042,AL833520,BC067282,BU173489,CD511209,DA147897,DB031764,DB063011 EAX03093,BAG58806,CAI56717,Q5DTE4 Hs.8198 ZNF204 pseudo 1312095 ZNF205 zinc finger protein 205 1580863 18029348,16713569,9787081,16189514,15489334,12477932,16712791 7755 NM_003456,NM_001042428,AC108134,CH471112,BI826058,BM924902,CB152017,CR623188,AF060865,AK313009,BC002810 NP_003447,NP_001035893,EAW85396,O95201,EAW85397,EAW85398,EAW85399,EAW85400,EAW85401,AAC70007,BAG35845,AAH02810 Hs.592088 ZNF210|Zfp13 OTTHUMP00000192911|zinc finger protein 205|zinc finger protein 210 protein-coding 1317710 ZNF207 zinc finger protein 207 1580863 9799612,15635413,15489334,15146197,12477932,12840049,18029348,19615732 7756 AK309979,AL834501,BC000962,BC002372,BC008023,BT007365,CN276833,CR616570,CR617272,CR617452,NM_001032293,NM_003457,AC005899,AC026620,AC090616,AC116407,CH471147,AB209215,AF046001,AI308956,AK226172,AK291801,AK298950,NM_001098507 BAG61049,CAD39159,AAH02372,AAH08023,AAP36029,O43670,Q59G94,Q8N395,NP_001091977,NP_001027464,NP_003448,EAW80231,EAW80232,EAW80233,EAW80234,EAW80235,EAW80236,EAW80237,BAD92452,AAC78561,BAF84490 Hs.500775 DKFZp761N202 OTTHUMP00000163701|zinc finger protein 207 protein-coding 1350011 ZNF208 zinc finger protein 208 DISCONTINUED: This record was withdrawn by HGNC. 1580863 9724325,15469996,15057824,14702039,12477932,8467795 7757 NM_007153,AC003973,CH471106,AK096236,BC038199,CB997649 NP_009084,AAB94784,EAW84911,O43345,EAW84912,EAW84913 Hs.541334 PMIDP|ZNF95 zinc finger protein 208|zinc finger protein 91-like|zinc finger protein 95 protein-coding 1346858 ZNF209 zinc finger protein 209 pseudogene 9724325 441843 AC004004,AC025811,NG_021760 ZNF209 pseudo 1351945 ZNF211 zinc finger protein 211 1580863 12477932,9096115,7633419,16344560 10520 NM_006385,NM_198855,AC003682,CH471135,AB209273,AB209847,AK026941,AK294869,AK296942,AK297047,AK304666,AL559417,BC018138,BC034351,BC089440,BC110856,CR596216,U38904,DA745028,DA961612 NP_006376,NP_942152,EAW72520,EAW72521,EAW72522,BAD92510,BAD93084,BAG57971,BAG59491,BAG59573,BAG65441,AAH34351,AAH89440,AAI10857,AAA93261,Q13398 Hs.726532 C2H2-25|CH2H2-25|MGC131841|ZNF-25|ZNFC25 zinc finger protein 211|zinc finger protein C2H2-25 protein-coding 1317263 ZNF212 zinc finger protein 212 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq] 1580863 18255255,7633419,15489334,12853948,12690205,12477932,9847074,9169157 7988 NM_012256,AACC02000041,AC004890,CH471146,AK074821,AK315086,BC022785,U38864,AI242662 NP_036388,EAL24431,AAD45826,EAW80053,EAW80054,BAG52008,BAG37551,AAH22785,AAC51296,Q9UDV6,ABZ92267 Hs.490510 C2H2-150|MGC9707|ZNF182|ZNFC150 OTTHUMP00000213756|Zinc finger protein C2H2-150|zinc finger protein 212 protein-coding 1314237 ZNF213 zinc finger protein 213 C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM] 1580863 16344560,15489334,14702039,12477932,10023065,9653642,8889548 7760 NM_001134655,AC108134,CH471112,AF017433,AK055337,AK289834,AK291789,AK297454,BC007287,BC007598,BC012772,BC080572,BM974318,DA115503,DA811482,NM_004220 NP_001128127,EAW85393,EAW85394,AAB70531,BAF82523,BAF84478,BAG59878,AAH07287,O14771,NP_004211 Hs.115284 CR53|ZKSCAN21 putative transcription factor CR53|zinc finger protein 213|zinc finger protein with KRAB and SCAN domains 21 protein-coding 1349128 ZNF214 zinc finger protein 214 1580863 12477932,10762538,16344560,7959730 7761 NM_013249,AC100875,CH471064,AA678604,AF056617,AK313462,BC136772,BC144405,DB262997 NP_037381,EAW68669,AAF00004,BAG36248,AAI36773,AAI44406,Q9UL59 Hs.445849 BAZ-1|BAZ1 BAZ 1|BWSCR2-associated zinc finger protein 1|zinc finger protein 214 protein-coding 1344334 ZNF215 zinc finger protein 215 1580863 10762538,12477932,7959730 7762 NM_013250,AC090160,CH471064,AF056618,BX117423,CN483744,AK298365,BC014538 NP_037382,EAW68671,AAF00005,AAH14538,Q96C84,Q9UL58,BAG60607 Hs.523457 BAZ-2|BAZ2|ZKSCAN11 BAZ 2|BWSCR2-associated zinc finger protein 2|zinc finger protein 215|zinc finger protein with KRAB and SCAN domains 11 protein-coding 1318226 ZNF217 zinc finger protein 217 1580863 9671742,18425333,17572303,17130829,16940172,16203743,15756435,15489334,15302935,12845628,12493763,12477932,11780052,19754958,21059223,18625718,19242095,19403395,20429623,11245413,8134364,11171972,20661224 7764 NM_006526,AL157838,CH471077,AF041259,AK290350,BC039055,BC113427,CR598126 NP_006517,CAC08433,CAC32858,EAW75578,EAW75579,EAW75580,EAW75581,AAC39895,BAF83039,AAI13428,O75362,Q9BZ31 Hs.155040,Hs.711564 ZABC1 OTTHUMP00000031307|zinc finger protein 217 protein-coding 1347695 ZNF219 zinc finger protein 219 1580863 19549071,10819330,17081983,16344560,15489334,14702039,14621294,14611647,12477932,9373149,8125298,16712791 51222 NM_001101672,NM_016423,AL161668,CH471078,AB015427,AK056261,AK225811,AK290700,BC000694,BC036105,BT006956,CB152705,CR610917,DA013397,DC358466,NM_001102454 NP_001095142,NP_057507,EAW66404,EAW66405,EAW66406,EAW66407,BAA90526,BAF83389,AAH00694,AAH36105,AAP35602,Q53Y57,Q9P2Y4,NP_001095924 Hs.250493 ZFP219 zinc finger protein 219 protein-coding 1318379 ZNF22 zinc finger protein 22 (KOX 15) 1580863 1946370,14630903,15489334,12477932,2288909,2014798,1639412,1505991,1421376,18029348,17207965 7570 NM_006963,AL353801,AY137767,CH471160,M77172,AK291508,AK312278,AU310379,BC010642,BC026193,BC041139,BC053687,BT009806,CR602041,S50223,X52346 NP_008894,CAI13068,AAN15804,EAW86632,EAW86633,AAA36815,BAF84197,AAH10642,AAH41139,AAH53687,AAP88808,AAB24264,CAA36572,P17026,Q5T741,ADQ31618 Hs.462693,Hs.655124 HKR-T1|KOX15|ZNF422|Zfp422 krox-26 protein|zinc finger protein 22|zinc finger protein KOX15|zinc finger protein Krox-26 protein-coding 1347890 ZNF221 zinc finger protein 221 1580863 15489334,15057824,12743021,12477932,10449920 7638 NM_013359,AC006213,AC035150,CH471126,AF187987,AK314207,BC111981,BC113426,BC143659 NP_037491,AAF63029,EAW57237,AAF04103,BAG36883,AAI11982,AAI13427,Q9UK13,ABZ92253 Hs.631598 MGC138186|MGC141986 zinc finger protein 221 protein-coding 1345369 ZNF222 zinc finger protein 222 1580863 16344560,15057824,14702039,12743021,12477932,1559709,18029348 7673 NM_013360,NM_001129996,AC067968,CH471126,M67508,AF187988,AK095196,BC030261,DB185422 NP_037492,NP_001123468,AAF66075,EAW57242,EAW57243,EAW57244,AAA36132,AAF04104,BAG53006,AAH30261,Q02387,Q8N6G7,Q9UK12 Hs.279840 zinc finger protein 222 protein-coding 1353320 ZNF223 zinc finger protein 223 1580863 10449920,12743021,12477932,8617494 7766 NM_013361,AC084219,AC092072,CH471126,U46189,AF187989,AK292327,BC022466,DR761157 NP_037493,AAG23844,EAW57245,EAW57246,EAW57247,EAW57248,AAB03531,AAF04105,BAF85016,AAH22466,Q9UK11,ABZ92261 Hs.720813 Homo sapiens zinc finger protein 223|KRAB A domain|Zinc finger protein ZNF223|zinc finger protein 223 protein-coding 1350705 ZNF224 zinc finger protein 224 1580863 17900823,15489334,15302935,12743021,12527367,12477932,12239212,10585455,2288909,20587513,16344560,19118814,19505435,19741270,20379614,20591825,20574532 7767 NM_013398,AC021092,AC084219,AC114266,CH471126,AF067164,AF187990,AK292500,AY148489,BC002889,BC051902,X52353,DA245440 NP_037530,AAF24968,AAG23845,EAW57250,EAW57251,EAW57252,EAW57253,EAW57254,AAD32448,AAF04106,BAF85189,AAN61121,AAH02889,AAH51902,CAA36579,Q9BU51,Q9HCA8,Q9NZL3,ABZ92262 Hs.585869,Hs.727633 BMZF-2|BMZF2|KOX22|ZNF255|ZNF27 bone marrow zinc finger 2|zinc finger 2, bone marrow|zinc finger protein 224|zinc finger protein 233|zinc finger protein 255|zinc finger protein 27 (KOX 22)|zinc finger protein KOX22|zinc finger protein ZNF255 protein-coding 1346174 ZNF225 zinc finger protein 225 1580863 16344560,15489334,15057824,12743021,12477932,10737800,9373149,8125298 7768 NM_013362,AC021092,AC074331,CH471126,AF027138,AF187991,AK223477,AK292437,AK302106,AK313301,BC108912,BQ373092,CR615158,DA537943 NP_037494,AAF24967,AAF88105,EAW57255,AAB84017,AAF04107,BAD97197,BAF85126,BAG63487,AAI08913,O14883,Q9UK10 Hs.279567 MGC119735 C2-H2 type zinc finger protein|zinc finger protein 225 protein-coding 1343710 ZNF226 zinc finger protein 226 1580863 16344560,15489334,15057824,14702039,12743021,12477932,20211142 7769 AF246126,AK023091,AK314554,AK314724,BC017786,BC024197,BI457780,BX091242,DA178589,DR002748,NM_001032374,NM_015919,NM_001032372,NM_001146220,AC074331,AC138470,CH471126,AF024707,AF070666,AF228418,NM_001032373,BX537487,BX648775,CD700800,CF596130,DA521074,H85374,H96353 AAF76875,BAB14398,BAG37139,BAG37267,AAH17786,AAH24197,NP_001027545,NP_001027546,NP_057003,NP_001027544,NP_001139692,AAF88103,EAW57258,EAW57259,EAW57260,AAB81097,AAD20972,AAF34786,O14859,Q8WWE6,Q9NR94,Q9NYT6,Q9Y2R1,ABZ92263,ADR82702 Hs.145956 Kruppel-associated box protein|zinc finger protein 226 protein-coding 1351628 ZNF227 zinc finger protein 227 16582619,15489334,14702039,12743021,12477932,7865130 7770 NM_182490,AC074331,AC138470,CH471126,AK092253,AK311670,AL833012,AY166786,AY500355,BC047570,AK299266,AK300576,AK316048 NP_872296,AAF88107,EAW57261,EAW57262,BAG52509,CAH56268,AAO45835,AAS55105,AAH47570,Q658S5,Q6RFS3,Q86WM4,Q86WZ6,Q9NS43,BAH12985,BAH13308,BAH14419 Hs.298089 zinc finger protein 227 protein-coding 1348111 ZNF229 zinc finger protein 229 1580863 15057824,14702039,12743021,12477932,20694014 7772 AK091541,AY166791,BC150612,CR936724,NM_014518,AC084239,AC138473,AB209357,AF192979 BAC03689,AAO45840,AAI50613,Q8NB52,Q9UJW7,NP_055333,AAG23970,BAD92594,AAF07964 Hs.709348 FLJ34222 zinc finger protein 229 protein-coding 1316246 ZNF23 zinc finger protein 23 (KOX 16) 1580863 18384939,17137575,15489334,14702039,12477932,12127974,8500793,7865130,2288909,20211142 7571 AC010547,NM_145911,AF024709,AF226996,AF507946,AK091039,AK297130,AL080123,AL833815,AY500362,BC007256,BC048974,BT007400,BX537507,CR614408,X52347 NP_666016,AAB81099,AAK28321,AAM33359,BAG52267,BAG59634,CAB45722,CAD38678,AAS55112,AAH07256,AAH48974,AAP36064,CAD97769,CAA36573,O14861,P17027,Q6RFR6,Q7Z3R2,Q8NDP5,Q9BY29 Hs.656643 KOX16|MGC57283|ZNF359|ZNF612|Zfp612 OTTHUMP00000174921|kruppel-like zinc finger factor X31|zinc finger protein 23|zinc finger protein 32|zinc finger protein 359|zinc finger protein 612|zinc finger protein KOX16 protein-coding 1343277 ZNF230 zinc finger protein 230 1580863 11672448,19170196,19625176,19684603,19692168,20379614,18676680,18584306,15952109,15640038,15489334,15057824,14702039,12743021,12477932 7773 NM_006300,AC006213,AC018725,AC067968,CH471126,AK056865,BC030810,BC050340,BC066950,BC094708,U95044 NP_006291,AAF18685,AAF66074,EAW57241,AAH50340,AAH94708,AAB62180,Q9UIE0,ABZ92264 Hs.193583 FDZF2 zinc finger protein 230|zinc finger protein FDZF2 protein-coding 1351576 ZNF232 zinc finger protein 232 1580863 16189514,15489334,14702039,12477932,11311944,9373149,8125298 7775 NM_014519,AC012146,AF080169,AF080170,AF080171,CH471108,AK057506,AK225622,AK297835,AK298190,BC016039,BQ641476,CR592276,CR620901,Y15067,AK316369 NP_055334,AAD46135,EAW90358,BAG51923,BAG60169,BAG60461,AAH16039,CAB95963,Q9UNY5,ABZ92452,BAH14740 Hs.279914 ZSCAN11 zinc finger and SCAN domain-containing protein 11|zinc finger protein 232 protein-coding 1353655 ZNF233 zinc finger protein 233 737633 18029348,14702039,12743021,12477932 737633 353355 NM_181756,AC074331,AC138470,CH471126,AK055310,AK095351,AY166792,BC047795,BC136734,BC136735 NP_861421,AAF88106,EAW57263,EAW57264,EAW57265,EAW57266,BAG53032,AAO45841,AAI36735,AAI36736,A6NK53,Q9NS42 Hs.466891 FLJ38032 zinc finger protein 233 protein-coding 1344990 ZNF234 zinc finger protein 234 1580863 15489334,12743021,12477932,7865130,18029348 10780 NM_001144824,AC021092,AC074331,AC138470,CH471126,AF027142,AF027143,AF228417,AK289843,AK314064,AY166787,AY166788,NM_006630,BC007303,X78927 NP_006621,NP_001138296,AAF88104,EAW57256,EAW57257,AAB84021,AAB84022,AAF34785,BAF82532,AAO45836,AAO45837,AAH07303,CAA55527,O14887,O14888,Q14588,Q86WM2,Q86WM3 Hs.235992 HZF4|ZNF269 C2-H2 type zinc finger protein|Homo sapiens zinc finger 234|zinc finger protein 234|zinc finger protein 234, partial sequence|zinc finger protein 269|zinc finger protein 4|zinc finger protein HZF4 protein-coding 1350686 ZNF235 zinc finger protein 235 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq] 15489334,12477932,9570955,8617494,7865130 9310 NM_004234,AC084239,AC092477,AC138470,AC138473,CH471126,AF027513,AF027514,AK300317,AK307103,AK315242,BC002663,BC002800,BC105807,BC117215,BC143482,BC143484,CR619160,X78929 NP_004225,AAG23969,EAW57267,AAD12728,AAD12729,BAG62069,AAI05808,AAI17216,CAA55529,Q14590,Q3KRA4 Hs.727956,Hs.724032 ANF270|HZF6|ZFP93|ZNF270 zfp-93|zinc finger protein 235|zinc finger protein 270|zinc finger protein 6|zinc finger protein 93 homolog|zinc finger protein HZF6|zinc finger protein homologous to Zfp93 in mouse|zinc finger protein homologous to mouse Zfp93 protein-coding 1320136 ZNF236 zinc finger protein 236 1580863 9299475,18029348,19240061,12906866,10458916,12477932,19690890 7776 NM_007345,AC027575,AC093330,CH471117,AB208834,AF083213,AF085243,AF085244,BC140859,BX648028 NP_031371,EAW66587,BAD92071,AAC72200,AAD55328,AAD55329,AAI40860,O95276,Q59HC5,Q9NWI2,Q9UL36 Hs.719137 ZNF236A|ZNF236B regulated by glucose|zinc finger protein 236 protein-coding 1346592 ZNF238 zinc finger protein 238 C2H2-type zinc finger proteins, such as ZNF238, act on the molecular level as transcriptional activators or repressors and are involved in chromatin assembly.[supplied by OMIM] 1580863 16710414,9013868,9756912,9770450,15489334,12477932,11350943,10721697,9568537,7633419,7566098,20103640,20936779 10472 NM_205768,NM_006352,AJ223321,AL590483,CH471148,AJ001388,AK291408,AK293892,AL050055,BC036677,BC078175,DC377579,U38896,X95072 NP_991331,NP_006343,CAA11262,CAH71954,EAW77097,EAW77098,EAW77099,CAA04718,BAF84097,BAG57281,AAH36677,AAA81368,CAA64468,Q99592 Hs.69997 C2H2-171|RP58|TAZ-1|ZBTB18 58 kDa repressor protein|transcriptional repressor RP58|translin-associated zinc finger protein 1|zinc finger and BTB domain-containing protein 18|zinc finger protein 238|zinc finger protein C2H2-171 protein-coding 1351594 ZNF239 zinc finger protein 239 MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM] 1580863 9121460,19490114,17760566,17081983,16344560,15489334,15057824,12477932,12409453,8903737,8587123,16385451,19913121,20628086,20641033 8187 NM_001099283,NM_001099284,NM_001099282,NM_005674,AL450326,CH471160,X82126,AK292013,BC026030,CR605759,DA686973,DA937379,X82125 NP_001092753,NP_001092754,NP_001092752,NP_005665,CAI15021,EAW86602,EAW86603,EAW86604,CAA57638,BAF84702,AAH26030,CAA57637,Q16600,ABZ92270 Hs.25040 HOK-2|MOK2 OTTHUMP00000019484|zinc finger protein (C2H2) homologous to mouse MOK-2|zinc finger protein 239|zinc finger protein HOK-2|zinc finger protein MOK-2 protein-coding 1344102 ZNF24 zinc finger protein 24 1580863 16169070,10585455,17270462,16189514,15592455,15561718,15489334,12477932,10567577,2288909,2004757,14499622,18029348,20211142,14702039,19060904,19463170,19544452,19615732,20453000,20510677,20562859 7572 NM_006965,AC116447,AF016052,CH471088,AF038964,AF542097,AK291246,BC003566,BC016801,BT006658,CR450328,U68536,X52348,AK021966,CR620395 NP_008896,AAB70216,EAX01348,EAX01349,EAX01350,AAD19827,AAN40767,BAF83935,AAH03566,AAH16801,AAP35304,AAB37275,CAA36574,P17028,CAG29324,ADR82721 Hs.514802 KOX17|RSG-A|ZNF191|ZSCAN3|Zfp191 lacks zinc finger domain|retinoic acid suppression protein A|zinc finger and SCAN domain-containing protein 3|zinc finger protein 191|zinc finger protein 24|zinc finger protein 24 (KOX 17)|zinc finger protein KOX17 protein-coding 1342563 ZNF240 zinc finger protein 240 22968 1350286 ZNF241 zinc finger protein 241 22967 1354485 ZNF242 zinc finger protein 242 22966 1352424 ZNF243 zinc finger protein 243 22965 1347552 ZNF244 zinc finger protein 244 22964 1346616 ZNF245 zinc finger protein 245 22963 1342619 ZNF246 zinc finger protein 246 22962 1344707 ZNF247 zinc finger protein 247 22961 1349221 ZNF248 zinc finger protein 248 1580863 16385451,19553259,12566394,12477932 57209 BC110869,BC132915,BC132917,BC146820,NM_021045,AJ245586,AJ245587,AL135791,CH471072,AJ491695,AJ492196,AK293936,AK293971,AK299357,AL049341,BC021819 AAH21819,AAI10870,AAI32916,AAI32918,AAI46821,Q05CR2,Q8NDV8,Q8NDW4,Q9UMP4,NP_066383,CAB52478,CAB52547,CAI12320,CAI12321,CAI12322,CAI12323,EAW85896,EAW85897,EAW85898,EAW85899,CAD36954,CAD37332,BAG57314,BAG57343,BAG61352 Hs.528423 KIAA0137|MGC131882|bA162G10.3 KRAB protein domain|Kruppel-type zinc finger protein|OTTHUMP00000019461|OTTHUMP00000019462|bA162G10.3 (zinc finger protein)|zinc finger protein 248 protein-coding 1350303 ZNF249 zinc finger protein 249 22959 1344079 ZNF25 zinc finger protein 25 1580863 16385451,15489334,14702039,12566394,12477932,10942432,8464732,2288909,1639412 219749 NM_145011,AL117337,CH471072,AJ491696,AK056452,AK056635,AK091378,AK122958,AL834125,AL834244,BC036038,CR600171,X52350 NP_659448,CAH73313,CAH73314,EAW85895,CAD36955,BAB71187,CAD38845,AAH36038,CAA36576,P17030,ABZ92547 Hs.499429 DKFZp564C206|FLJ31890|KOX19|Zfp9 OTTHUMP00000020829|zinc finger protein 25|zinc finger protein 25 (KOX 19)|zinc finger protein KOX19 protein-coding 1349906 ZNF250 zinc finger protein 250 737633,1580863 16344560,16189514,15489334,14702039,12477932 737633 58500 NM_001109689,NM_021061,AF235103,CH471162,AB208810,AK054888,AK095705,AK294282,BC017091,BC107579,BX648173,CA422363,DB206757,DB272357,DC314684,X16282 NP_001103159,NP_066405,EAW82029,EAW82030,EAW82031,EAW82032,BAD92047,BAG51441,BAC04614,BAG57567,AAH17091,AAI07580,CAA34358,P15622,Q3B7J8,Q59HE9 Hs.532277 FLJ57354|MGC111123|MGC9718|ZFP647|ZNF647 zinc finger protein (clone 647)|zinc finger protein 250|zinc finger protein 647 protein-coding 1322438 ZNF251 zinc finger protein 251 1580863 16344560,15489334,14702039,12477932,8889548,18029348,20379614,16484223 90987 NM_138367,AF186192,CH471162,AK000435,AK027286,AK091638,BC006258,BC093984,BC112137,BU674002,BX509447,DA775010,DA811573 NP_612376,EAW82060,AAH06258,AAI12138,Q9BRH9 Hs.534516 FLJ34319 zinc finger protein 251 protein-coding 1345050 ZNF252 zinc finger protein 252 1580863 16344560,12477932,8889548 286101 NR_023392,AF235103,AK027662,AK128723,AK296398,BC016287,BC019922,BC051730,BI254488,BX478460,CA311045,CF145574,DA489661,DB233439,AK294723,BC065734 BAG59065,BAG57870 Hs.725207 pseudo 1348327 ZNF253 zinc finger protein 253 1580863 10585455,12477932 56242 AC011477,CH471106,AF038951,AK074757,AK074872,BC014148,BC022891,BC053607,BC065572,BC125063,BC125064,NM_021047 NP_066385,EAW84863,EAW84864,AAC26844,BAC11185,BAC11257,AAH14148,AAH65572,AAI25064,AAI25065,O75346 Hs.301059 BMZF-1|BMZF1|FLJ90391|ZNF411 DNA-binding protein|bone marrow zinc finger 1|zinc finger protein 253|zinc finger protein 411 protein-coding 1350215 ZNF254 zinc finger protein 254 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 1298632,1580863 10585455,15489334,12477932,11042152,9653160 1298632 9534 NM_203282,AC073534,AC092279,CH471106,AF054180,AK291286,AK303431,AL832713,BC043147,BC044906,BC056243,BC139749 NP_975011,EAW84960,EAW84961,AAC39913,BAF83975,BAG64481,AAH43147,AAH56243,AAI39750,O75437,Q7Z2R1 Hs.434406 BMZF-5|FLJ58216|HD-ZNF1|ZNF539|ZNF91L bone marrow zinc finger 5|hematopoietic cell-derived zinc finger protein 1|hematopoietic-derived zinc finger protein|zinc finger protein 254|zinc finger protein 539|zinc finger protein 91-like protein-coding 1352745 ZNF256 zinc finger protein 256 1580863 10585455,18060868,15489334,12878157,12477932 10172 NM_005773,AC010326,CH471135,AF067165,AK314094,AU280306,BC001438,BT006853,CD656453 NP_005764,EAW72544,AAD32449,BAG36789,AAH01438,AAP35499,Q9Y2P7 Hs.596242 BMZF-3|BMZF3 bone marrow zinc finger 3|zinc finger protein 256 protein-coding 1342555 ZNF257 zinc finger protein 257 1580863 10585455,14702039,12477932 113835 NM_033468,AC003973,AC011482,CH471106,AF070651,AK056694,BC020045,BC036446,BI553764 NP_258429,EAW84915,EAW84916,EAW84917,AAD20957,BAG51786,AAH36446,Q9Y2Q1,ABZ92090 Hs.283900 BMZF-4|BMZF4 bone marrow zinc finger 4|zinc finger protein 257 protein-coding 1323503 ZNF259 zinc finger protein 259 1580863 20657596,8650580,18193044,17068332,16236267,15767679,15489334,12477932,12095920,10938113,9852145,16169070,9763455,18179892,18193043,19060906,20442857,20691829,19913121,20628086,20864672 8882 NM_003904,AP006216,CH471065,AF019767,AK301227,BC004256,BC011929,BC012162,BC017349,BC017380,BC111028,BT006642,CR590018,CR594434,CR621542,CR622469,CR626297 NP_003895,EAW67267,EAW67268,AAC33514,BAG62800,AAH04256,AAH12162,AAH17349,AAH17380,AAI11029,AAP35288,O75312 Hs.7165 MGC110983|ZPR1 OTTHUMP00000069349|OTTHUMP00000069350|zinc finger protein ZPR1 protein-coding 1349092 ZNF259P zinc finger protein 259, pseudogene 442240 NG_009460,Z95118,CR627448 Hs.626676 354J5|ZNF259P pseudo 1347458 ZNF26 zinc finger protein 26 15489334,14702039,12477932,9373149,8125298,2288909,2026422 7574 BC008211,BC046206,BT006963,X52351,NM_019591,AC073911,CH471218,AK000762,AK122941,AK225296,AK291243,AL833057 CAH56341,AAH08211,AAH46206,AAP35609,CAA36577,P17031,Q658Q3,NP_062537,EAW54803,EAW54804,BAA91367,BAF83932 Hs.489608 FLJ20755|KOX20 zinc finger protein 26|zinc finger protein 26 (kox 20)|zinc finger protein KOX20 protein-coding 1606913 ZNF260 zinc finger protein 260 16344560,16166646,15489334,14702039,12477932,7829101 339324 BQ938102,DB283305,NM_001166036,NM_001166037,NM_001166038,NM_001012756,AC092295,AK122854,AK123830,AK291442,BC042676,BC119003,BC122549,BI493993,CR609031 NP_001159508,NP_001159509,NP_001159510,NP_001012774,BAF84131,AAH42676,AAI19004,AAI22550,Q3ZCT1 Hs.18103 OZRF1|ZFP260|ozrf1 zfp-260|zinc finger protein 260 protein-coding 1316415 ZNF263 zinc finger protein 263 1580863 9256059,15616553,15489334,12477932,8586417,16189514,19887448 10127 NM_005741,AC004232,CH471112,AK312421,BC008805,CR602060,D88827 NP_005732,AAC24490,EAW85378,EAW85379,EAW85380,BAG35331,AAH08805,BAA21853,O14978 Hs.611475 FPM315|ZKSCAN12 zinc finger protein 263|zinc finger protein FPM315|zinc finger protein with KRAB and SCAN domains 12 protein-coding 1348682 ZNF264 zinc finger protein 264 1580863 16344560,16341674,15592455,15057824,14702039,12477932,11543637,9455477 9422 NM_003417,AC005261,AC025588,CH471135,AB007872,AK097167,AK292504,BC115410,BC115411,BF063192,BM739537,BQ020432,DA331461,NG_016432 NP_003408,AAF42766,EAW72483,EAW72484,BAA24842,BAF85193,AAI15411,AAI15412,O43296,Q14C61 Hs.515634 zinc finger protein 264 protein-coding 1352902 ZNF266 zinc finger protein 266 1580863 16628192,15489334,14702039,12477932,7865130,20601676,19763908 10781 NM_198058,NM_006631,AC011451,CH471106,AB095928,AK027480,AL533858,AL833471,AL833503,AY376240,BC017407,BC071628,BC112919,BC126255,BC143940,BC146837,BQ015374,BX471437,BX472300,CR595020,X78924 NP_932175,NP_006622,EAW84033,EAW84034,EAW84035,EAW84036,BAC23104,AAQ82907,AAH17407,AAH71628,AAI12920,AAI26256,AAI46838,CAA55524,Q14584,ABZ92299,ADR83205 Hs.656185 HZF1 zinc finger protein 1|zinc finger protein 266|zinc finger protein HZF1 protein-coding 1343571 ZNF267 zinc finger protein 267 1580863 7865130,17081983,16054593,15814297,15592455,15489334,14702039,12477932,11121585,18029348 10308 NM_003414,AC034105,CH471192,AF220492,AK096390,AK292573,AL832123,BC036367,BC127088,BC127089,DB484386,X78925 NP_003405,EAW52106,AAF73867,BAG53279,BAF85262,AAH36367,AAI27089,AAI27090,CAA55525,Q14586,ABZ92290 Hs.460645 HZF2 zinc finger (C2H2)|zinc finger protein 2|zinc finger protein 267|zinc finger protein HZF2 protein-coding 1347350 ZNF268 zinc finger protein 268 1580863 11311945,18949428,18774934,18677094,18375384,16865230,16787922,16735226,15547661,14702039,12822888,12477932,7865130,15146197,16344560 10795 DQ057360,DQ057361,X78926,DQ057359,NM_003415,AC026786,CH471218,AF141655,AF317549,AF385187,AF432217,AK027712,AY583691,BC058548,BC110542,DQ057356,DQ057357,DQ057358,AC226150,AW138703,CN255799,DB079580,NM_001165881,NM_001165882,NM_001165883,NM_001165884,NM_001165885,NM_001165886,NM_001165887,NM_152943 CAA55526,Q14587,Q2TB61,Q8TDG8,Q9H337,NP_003406,EAW54786,EAW54787,EAW54788,EAW54789,AAG39638,AAG59817,AAK69307,AAL99923,BAG51369,AAI10543,NP_001159353,NP_001159354,NP_001159355,NP_001159356,NP_001159357,NP_001159358,NP_001159359,NP_694422 Hs.124047 HZF3|MGC126498 zinc finger protein 268|zinc finger protein 3|zinc finger protein HZF3 protein-coding 1349417 ZNF27 zinc finger protein 27 (KOX 22) 1580863 7575 P17033 X52353 1344423 ZNF271 zinc finger protein 271 Zinc finger proteins interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 1580863 16344560,15489334,14702039,12477932,11777961,7865130 10778 NR_024565,NR_024566,AC011815,AC116447,AF159567,AK023456,AK094216,BC004510,BC017710,BJ990003,BM992306,DA005750,DA179133,DA493437,X78930 AAD43569,BAG51196,CAA55530,ABZ92298 Hs.314246 HZF7|ZNFEB pseudo 1351261 ZNF273 zinc finger protein 273 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq] 1580863 16344560,15489334,14702039,12477932,9847074,7865130 10793 NR_003099,NM_021148,AC092161,CH471204,AK090648,AL832810,BC007078,BC008386,BC019234,BC041102,BC063818,BC108740,DA324061,DA807335,X78932 NP_066971,AAQ93371,AAQ93372,EAW77992,EAW77993,EAW77994,BAG52207,AAH08386,AAH19234,AAH63818,CAA55532,Q14593,Q75LP1,Q8WUX5,Q96HL5 Hs.520889 HZF9|MGC12518 zinc finger protein 273|zinc finger protein 9|zinc finger protein HZF9 protein-coding 1347715 ZNF274 zinc finger protein 274 This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq] 1580863 17474147,10777669,10520746,16954381,15498874,15489334,14702039,12477932,10545116,9373149,8125298,18029348 10782 NM_133502,NM_016325,NM_016324,AC008751,AC020915,CH471135,AB029149,AB029150,AF275680,AF275681,AK022328,AK095162,AK222855,AK222878,AK295036,AK296929,AK297466,AK307906,AK316429,BC009763,BT007304,BX641169,U71598 NP_598009,NP_057409,NP_057408,EAW72565,EAW72566,EAW72567,BAA88522,BAA88523,AAG24390,AAG24391,BAG58090,BAG59481,BAG59888,BAH14800,AAH09763,AAP35968,CAE46074,AAB16810,Q6MZG1,Q96GC6 Hs.83761 DKFZp686K08243|FLJ37843|HFB101|ZF2|ZKSCAN19 KRAB zinc finger protein HFB101|zinc finger protein 274|zinc finger protein HFB101|zinc finger protein with KRAB and SCAN domains 19|zinc finger protein zfp2 protein-coding 1347058 ZNF275 zinc finger protein 275 1580863 18029348,14702039,12477932,10854409 10838 NM_001080485,AC152007,AC152008,AK122976,AK127133,AK172795,BC001545,BC018767,BC041602,BC136634,AL833683,NG_021432 NP_001073954,BAG53829,AAI36635,Q9NSD4 Hs.348963 OTTHUMP00000070458|zinc finger protein 275 protein-coding 1316682 ZNF276 zinc finger protein 276 1580863 16713569,16344560,16189514,15489334,14702039,14605947,12477932,10936049 92822 NM_001113525,AC005360,AC010538,CH471184,AI283548,AK026482,AK056405,AK096004,AK096762,AK289801,AK295770,AK315793,AW179154,BC032781,BC038839,BC105959,BC107603,BC110348,NM_152287,BC111408,BM921035,BQ432535,BQ549716,CR620615,DA227038,DA891371 NP_689500,NP_001106997,EAW66687,EAW66688,EAW66689,EAW66690,EAW66691,EAW66692,EAW66693,BAG51699,BAF82490,BAG58595,AAH32781,AAI05960,AAI07604,Q8N554,ABZ92087,ACE87292,ACE86611,AAI10349 Hs.727637 FLJ38685|FLJ77809|MGC111410|MGC126480|MGC45417|ZFP276|ZNF477 zfp-276|zinc finger protein 276|zinc finger protein 276 homolog|zinc finger protein 276 homolog (mouse)|zinc finger protein 477 protein-coding 1353791 ZNF277 zinc finger protein 277 1580863 17353931,16713569,16395595,16344560,16213364,12853948,12690205,12477932,11597177,10860669 11179 DA285525,DB543718,AC004111,AC004112,AC087539,CH236947,CH471070,CS300564,AF209198,AF308819,AK027128,AK314630,AL713791,BC020626,BG924796,CR600080,CR604080,CR605159,CR606452,NM_021994 Q75MZ1,Q8TCK8,Q8WWA6,Q9NRM2,NP_068834,AAS07413,AAS07407,AAS07408,EAL24376,EAW83457,EAW83458,EAW83459,EAW83460,EAW83461,CAK32228,AAF85941,AAL55819,BAG37195,CAD28546,AAH20626 Hs.655904 NRIF4|ZNF277P OTTHUMP00000207268|nuclear receptor-interacting factor 4|zinc finger protein (C2H2 type) 277|zinc finger protein (c2h2 type) 277|zinc finger protein 277|zinc finger protein 277 pseudogene protein-coding 1349173 ZNF279 zinc finger protein 279 10591208 23748 1352869 ZNF28 zinc finger protein 28 1580863 14702039,12477932,8262519,2288909,15146197 7576 NM_006969,AC008813,CH471135,AK091553,AK092385,AK131368,AK131574,AK293074,AK304704,BC070146,BC140720,BX485233,BX489697,BX640767,CR933598,X52355,CN263784,NR_036599,NR_036600 NP_008900,EAW72097,EAW72098,BAD18519,BAD18706,BAF85763,BAG65472,AAH70146,AAI40721,CAI46258,CAI45923,CAA36581,P17035,Q6NSH2 Hs.554778 DKFZp781D0275|KOX24 OTTHUMP00000206114|zinc finger protein 28|zinc finger protein 28 (kox 24)|zinc finger protein KOX24 protein-coding 1347609 ZNF280 zinc finger protein 280 10591208 23747 1342488 ZNF280A zinc finger protein 280A This gene was predicted both by automated computational analysis and by similarity to a Drosophila gene and to predicted genes in other species (sheep, chimp, dog, cow). The predicted protein of this gene is similar to Drosophila suppressor of hairy wing protein, a leucine zipper protein which represses the function of transcriptional enhancers of the gypsy retrotransposon. [provided by RefSeq] 1580863 15489334,14702039,12477932,10591208,9074928 129025 NM_080740,NG_000002,CH471095,D87009,D87011,AK093108,BC053901,BG473533 NP_542778,EAW59517,BAA20006,BAA20008,BAG52655,AAH53901,P59817,ADR82757 Hs.178665 3'OY11.1|SUHW1|ZNF280|ZNF636 suppressor of hairy wing homolog 1|zinc finger protein 280|zinc finger protein 280A|zinc finger protein 636 protein-coding 1348223 ZNF280B zinc finger protein 280B This gene was identified by homology to other species. Its encoded protein is approximately 78-88% identical to a predicted sheep protein of unknown function. The protein is also approximately 25% identical to the Drosophila protein suppressor of hairy wing, which is a leucine zipper protein that represses the function of transcriptional enhancers of the gypsy retrotransposon. [provided by RefSeq] 1580863 9074928,15489334,15461802,14702039,12477932,10591208 140883 NM_080764,NG_000002,CH471095,D87009,AK097608,BC035376,BC040020,BC042370,CR456614 NP_542942,EAW59515,EAW59516,BAA20005,BAG53494,AAH40020,CAG30500,Q86YH2,CAK54642,CAK54941,ACE87300,ACE86619 Hs.43834 5'OY11.1|D87009.C22.3|SUHW2|ZNF279|ZNF632 OTTHUMP00000199058|suppressor of hairy wing homolog 2|zinc finger protein 279|zinc finger protein 280B|zinc finger protein 632 protein-coding 1349297 ZNF280C zinc finger protein 280C 737633,1580863 15772651,15489334,14702039,12477932,16344560 737633 55609 AL023799,AL139234,CH471107,AA805654,AK000102,AK290373,AL133204,AL834333,BC051728,CR603297,NM_017666,DA441065,DR003059,NG_021388 Q9UJJ2,NP_060136,CAI42592,CAI42593,CAI42782,EAX11805,EAX11806,EAX11807,BAA90947,BAF83062,CAB61579,CAD39001,AAH51728,Q8ND82 Hs.308418 FLJ20095|SUHW3|ZNF633 OTTHUMP00000024011|suppressor of hairy wing homolog 3|zinc finger protein 280C|zinc finger protein 633 protein-coding 1323434 ZNF280D zinc finger protein 280D 737633 16381901,15489336,14702039,12477932,11230166,11076863,10997877,8889548 737633 54816 NM_017661,NM_001002844,AC090517,AC090518,CH471082,AB046804,AK000093,AK025073,AK289739,AK295159,AK310882,AL136634,BC015382,BC040532,BC053649,BC064359,BC130451,BC136412,BM795112,BU689457,BX640637,BX640707,BX641000,NM_001002843 NP_060131,NP_001002844,EAW77504,EAW77505,EAW77506,EAW77507,EAW77508,BAB13410,BAA90940,BAB15059,BAF82428,BAG58173,CAB66569,AAH15382,AAH53649,AAH64359,AAI30452,AAI36413,NP_001002843,CAE45785,CAE45827,CAE46003,Q6N043,Q7Z6J5,Q9H740,CAL37528,CAL38620 Hs.511477 MGC21637|MGC61687|SUHW4|ZNF634 suppressor of hairy wing homolog 4|zinc finger protein 280D|zinc finger protein 634 protein-coding 1312996 ZNF281 zinc finger protein 281 1580863 10448078,15489334,14702039,12477932,10405178,12771217,17761849,20306291 23528 NM_012482,AC104461,CH471067,CQ834814,AF086540,AF125158,AJ132591,AJ132592,AK021707,AK022916,AK022921,AK027284,AK094701,AK297233,BC051905,BC060820 NP_036614,EAW91313,CAH05622,AAD21084,CAB70967,CAB70968,BAG51134,BAG51136,BAG51299,BAG59716,AAH51905,AAH60820,Q5RKW5,Q9Y2X9 Hs.59757 FLJ12859|FLJ14378|ZBP-99|ZNP-99 GC-box-binding zinc finger protein 1|ZNP-99 transcription factor|transcription factor ZBP-99|zinc finger DNA-binding protein 99|zinc finger protein 281 protein-coding 1314806 ZNF282 zinc finger protein 282 1580863 9396811,15790807,15489334,12853948,12690205,12477932,8889548,9847074,20379614 8427 NM_003575,AACC02000041,CH471146,AK299280,AK316282,AY927504,AY927505,BC009542,BC031686,BC041704,BC055287,BC073805,BU731447,CR603646,CR615805,CR622305,CV573257,D30612,AC004890 NP_003566,EAL24430,EAW80055,EAW80056,BAG61297,BAH14653,AAH31686,AAH41704,AAH55287,AAH73805,BAA24380,Q05BY5,Q7Z2V4,Q86YG2,Q9UDV7 Hs.490510 HUB1 HTLV-I U5 repressive element-binding protein 1|HTLV-I U5RE-binding protein 1|HUB-1|OTTHUMP00000213782|zinc finger protein 282 protein-coding 1354182 ZNF283 zinc finger protein 283 1580863 14702039,12743021,12477932,7865130 284349 NM_181845,AC011508,AK098175,AK294852,AY166784,AY500359,AY500364,BC045755,DC324604,DC384756 NP_862828,BAC05251,BAG57956,AAO45833,AAS55109,AAS55114,AAH45755,Q4G0N1,Q6RFR4,Q8N7M2,AAI67809,ADR83378 Hs.652513 HZF41 HZF19|zinc finger protein 283|zinc finger protein 41|zinc finger protein HZF19 protein-coding 1345575 ZNF284 zinc finger protein 284 16817023,12743021 342909 NM_001037813,AC084219,AK308295,AY166789,AY458845,CR936662 AAI56664,NP_001032902,AAO45838,AAS13443,Q2VY69 Hs.445395,Hs.720813 DKFZp781F1775|ZNF284L zinc finger protein 284 protein-coding 1342926 ZNF285A zinc finger protein 285A 1580863 16344560,14702039,12743021,12477932 26974 AC138473,CH471126,AK055309,AL833447,AY166790,BC069384,BC074824,BC074875,BC117300,BC117302,BC143984,BF343511,BM987858,DA949487,NM_152354 NP_689567,EAW57270,EAW57271,EAW57272,BAB70901,AAO45839,AAH69384,AAH74824,AAH74875,AAI17301,AAI17303,AAI43985,Q96NJ3,Q6B0D6,Q86WM0 Hs.709428 FLJ30747|ZNF285|ZNF285A zinc finger protein 285|zinc finger protein 285A protein-coding 2303455 ZNF285B zinc finger protein 285B 18957941 147711 NG_009596,AC069278,AC138473 pseudo 1350825 ZNF286A zinc finger protein 286A 1580863 15342556,14702039,12477932,12168954,11347906,9027492,8889548 57335 NM_020652,NM_001130842,AC005324,AB058777,AF086305,AF217226,AK021478,AK055651,AK092259,AK315062,BC015730,BC025260,BC128259,BC128411,BP193773,BU687070,CR614025 NP_065703,NP_001124314,BAB47503,AAG09701,BAG52512,BAG37536,AAI28260,AAI28412,Q9HBT8 Hs.585799,Hs.659318 KIAA1874|MGC149627|MGC156181|ZNF286 OTTHUMP00000065084|OTTHUMP00000065208|zinc finger protein 286|zinc finger protein 286A|zinc finger protein ZNF286 protein-coding 2299177 ZNF286C zinc finger 286C pseudogene 12477932,9852958 729288 AC026271 Hs.716573 pseudo 1318494 ZNF287 zinc finger protein 287 This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq] 1580863 15489334,12477932,11137451,11021307,8889548,16169070 57336 AC127540,CH471222,AF027140,AF217227,AL359578,BC032002,BC041159,BC057791,BC101487,BC113363,BM685282,BM979793,CR457194,DB514422,NM_020653 NP_065704,EAX04518,AAB84019,AAG09702,AAH57791,AAI01488,AAI13364,CAG33475,O14885,Q9HBT7,ABZ92027,Q6PEZ3 Hs.99724 MGC126536|MGC141923|ZKSCAN13 zinc finger protein 287|zinc finger protein with KRAB and SCAN domains 13 protein-coding 1350738 ZNF29 zinc finger protein 29 pseudogene 1580863 2004757,2288909 7577 NG_007542,AC005324,AC018989,X52357 CAA36583 Hs.684886 KOX26|ZNF29|ZNF29P zinc finger protein 29 (kox 26) pseudo 1354082 ZNF292 zinc finger protein 292 1580863 16344560,16303260,16112646,14702039,12477932,10687855,9628581,21116278 23036 NM_015021,AL139274,CH471051,AB011102,AB075508,AK023626,AK023712,AK123473,AK127835,AL832366,AY684300,BC016386,BC040712,BC043168,BC063594,BX537746,DA329523 NP_055836,CAH73308,EAW48607,BAA25456,BAE45755,BAB14622,BAB14654,BAC85621,BAC87155,AAV86070,AAH63594,CAD97823,O60281,Q3LIB3,Q3MN16,Q6P495,Q6ZS01,Q6ZW83,AAI72360 Hs.485892,Hs.656621 FLJ13564|FLJ41479|KIAA0530|Nbla00365|ZFP292|ZN-16|Zn-15|bA393I2.3 16 zinc-finger domain protein|putative protein product of Nbla00365|zinc finger protein 292 protein-coding 1321974 ZNF295 zinc finger protein 295 1580863 17081983,15629158,15489334,15342556,15302935,12477932,12107410,10830953,10574462,15324660,20379614 49854 NM_020727,NM_001098402,NM_001098403,AP001619,AP001620,AP001745,CH471079,AB033053,AB041014,AB041015,AB190372,AB190373,AB190374,AI291220,AK300291,AK308179,AL562200,BC063290,BI767542,BM893936,BP230048,CA397608,CR594540,CR610383,CR933655 NP_065778,NP_001091872,NP_001091873,BAA95529,EAX09579,EAX09580,EAX09581,BAA86541,BAD74063,BAD74064,BAD86526,BAD86527,BAD86528,BAG62048,AAH63290,CAI45954,Q5H9S0,Q5KS07,Q5R2W1,Q5R2W2,Q9ULJ3 Hs.434947,Hs.618406 DKFZp781N1974|ZBTB21 OTTHUMP00000109314|OTTHUMP00000109316|OTTHUMP00000109319|OTTHUMP00000109320|zinc finger and BTB domain-containing protein 21|zinc finger protein 295 protein-coding 1343580 ZNF296 zinc finger protein 296 1580863 19255975,15489334,14633674,12477932,11063263 162979 NM_145288,AC011489,CH471126,AF447583,AY040679,BC019352 NP_660331,EAW57320,AAN76720,AAK84667,AAH19352,Q8IX33,Q8NEY2,Q8WUU4 Hs.192237 ZFP296|ZNF342 zinc finger protein 296|zinc finger protein 342 protein-coding 1354213 ZNF299 zinc finger protein 299 8034323 89767 X73895 zinc finger protein 299 protein-coding 1352271 ZNF299P zinc finger protein 299 pseudogene 10830953,8034323 54012 NG_000898,AP001116,AP001686,X73895 ZNF299|ZNF299P|ZNF299P1 pseudo 1348770 ZNF3 zinc finger protein 3 1580863 14702039,12690205,12477932,3380682,1945843,18255255,2288909,18029348,16344560,15489334 7551 X60153,NM_032924,AC073842,AC093619,CH236956,CH471091,CS185617,AF027136,AF027139,AF193057,AF217988,AK000223,AK091984,AK297625,AK309719,AK315479,BC008031,BC011887,BC013603,BC025265,BT006918,BX647182,CA439866,CR616475,DA443888,X07290,X52356,NM_017715 CAA36582,CAB94195,O14881,O14884,P17036,Q6AWC6,Q86U76,Q9HBR4,ACE87652,ACE86962,NP_060185,NP_116313,EAL23858,EAL23859,EAW76603,EAW76604,EAW76605,EAW76606,EAW76607,EAW76608,CAJ42798,AAB84015,AAB84018,AAG22485,AAG17231,BAA91019,BAG52456,BAH12633,BAG37863,AAH11887,AAH13603,AAP35564,CAH10562,CAA30269 Hs.435302 A8-51|FLJ20216|HF.12|KOX25|PP838|Zfp113 C2-H2 type zinc finger protein|HZF3.1|OTTHUMP00000206970|OTTHUMP00000206972|OTTHUMP00000206973|OTTHUMP00000206974|OTTHUMP00000207034|zinc finger protein 3|zinc finger protein 3 (a8-51)|zinc finger protein HF.12|zinc finger protein HZF3.1|zinc finger protein KOX25 protein-coding 1345379 ZNF30 zinc finger protein 30 1580863 16344560,12477932,2288909 90075 NM_001099438,NM_001099437,NR_024018,NM_194325,AC008555,AK000569,AK290435,AK295515,BC142996,BX640666,DA504398,DA554380,DC314501,DC352784,X52359 NP_001092908,NP_001092907,NP_919306,BAF83124,BAG58432,AAI42997,CAE45802,CAA36585,P17039 Hs.657402 DKFZp686N19164|FLJ20562|KOX28 zinc finger protein 30|zinc finger protein 30 (KOX 28)|zinc finger protein KOX28 protein-coding 1349700 ZNF300 zinc finger protein 300 ZNF300 contains C2H2 (or Kruppel)-type zinc finger motifs that tetrahedrally coordinate zinc ions and form a protein structure that can bind DNA and regulate transcription (Gou et al., 2004 [PubMed 14746915]).[supplied by OMIM] 1580863 12477932,18350257,17541838,15489334,14746915,14702039,20549515,20471086,20585888,16341674,16344560,17554300 91975 NM_052860,AC010441,CH471062,AF395541,AK026949,AK095642,AK096465,AK300528,BC032607,BC117248,CR597788,CR600345,DQ908918,CR933727,BM824443,DA497503,DB094933,DC376791,NG_016866,NM_001172831,NM_001172832 NP_443092,EAW61698,EAW61699,EAW61700,EAW61701,EAW61702,AAK83888,BAG53297,BAG62240,AAI17249,ABI81769,Q96RE9,CAI46270,NP_001166302,NP_001166303,ADR83084 Hs.134885 DKFZp686B24204 OTTHUMP00000206798|kruppel-like zinc finger protein|zinc finger protein 300 protein-coding 4109468 ZNF300P1 zinc finger protein 300 pseudogene 1 12477932,14702039 134466 AC022106,AK091436,AK096536,AK097462,BC022559,BC117490,BC126474,NR_026867 Q17R26 Hs.661876 pseudo 1353778 ZNF301 zinc finger protein 301 8034323 89769 X73897 ZF21-3 protein-coding 1351185 ZNF302 zinc finger protein 302 1580863 15489334,12477932,7865130,19019082,17207965 55900 AL834318,AY251166,AY500357,BC024176,CR621737,NM_001012320,AC020910,AB209226,AF155656,AF190157,AF265236,AF326206,AI929099,AK074901,AK122855,AK131278,AK315241,AL162002,AL515741,AL833690,NM_018443 CAD38987,AAP20063,AAS55107,AAH24176,Q59G83,Q6RFS1,Q6X7T3,Q7Z4B9,Q8NC84,Q9NR11,NP_060913,NP_001012320,BAD92463,AAF67475,AAQ13701,AAF74775,AAK11224,BAC11279,BAG53763,BAG54758,ADQ31718 Hs.436350 HSD16|MST154|MSTP154|ZNF135L|ZNF140L|ZNF327 OTTHUMP00000223611|OTTHUMP00000223613|OTTHUMP00000223614|ZNF135-like|ZNF140-like|zinc finger ZNF140-like|zinc finger protein 135-like|zinc finger protein 140-like|zinc finger protein 302|zinc finger protein 327 protein-coding 1352206 ZNF304 zinc finger protein 304 1580863 16344560,12477932,12051768 57343 NM_020657,AC005261,CH471135,AJ276316,BC111531,BC111532,DA788435 NP_065708,EAW72493,EAW72494,CAC06610,AAI11532,AAI11533,Q2T9G7,Q2T9G8,Q9HCX3,ABZ92361 Hs.287374 MGC129703|MGC129704 zinc finger protein 304 protein-coding 1345152 ZNF309 zinc finger protein 309 404540 1604963 ZNF311 zinc finger protein 311 18309376,14574404,10520746,17474147,12477932,19851445 282890 NM_001010877,AL662791,AL662865,AL929561,BX293545,BX927167,CH471081,CR759835,CR759957,Z84476,AK289881,AL833166,BC136745,BC144385,BC144386,CR617585,U71600 NP_001010877,CAI18241,CAI41641,CAI41765,CAQ07641,EAX03178,CAQ08423,CAQ07347,CAB55432,BAF82570,AAI36746,AAB16812,Q5JNZ3 Hs.148218 zf31 zinc finger protein 311|zinc finger protein zfp-31|zinc finger protein zfp31 protein-coding 1349986 ZNF314P zinc finger protein 314 pseudogene 394253 1344550 ZNF315P zinc finger protein 315 pseudogene 387030 1323214 ZNF316 zinc finger protein 316 389461 XM_371873 1345905 ZNF317 zinc finger protein 317 1580863 14702039,12477932,11688974,10997877,16344560 57693 NM_020933,AC011464,CH471106,AB046808,AF148135,AF275255,AF307096,AF307097,AK056570,AK304151,AK304871,AK314560,AL834126,BC009367,BC078154,DA757943,NM_001190791 NP_065984,EAW84010,EAW84011,EAW84012,EAW84013,EAW84014,EAW84015,BAB13414,AAL29182,AAL29188,AAL29190,AAL29191,BAG51752,BAG65041,BAG65608,BAG37145,AAH78154,Q96PQ6,ABZ92367,NP_001177720 Hs.465829 KIAA1588 KRAB-containing zinc finger protein 317|zinc finger protein 317 protein-coding 1318587 ZNF318 zinc finger protein 318 18029348,17081983,16446156,15882980,15489334,15302935,14702039,14574404,12477932,10873617,9853615 24149 NM_014345,AL583834,AL590383,CH471081,AB015342,AF090114,AF121141,AK001200,AK025505,AK027061,BC030687,BC098434 NP_055160,CAI14459,CAH71374,EAX04179,BAA34799,AAD47387,AAD17298,AAH98434,Q5VUA4 Hs.509718 FLJ21852|HRIHFB2436|TZF|ZFP318 endocrine regulator|endocrine regulatory protein|testicular zinc finger|zinc finger protein 318 protein-coding 1314677 ZNF319 zinc finger protein 319 1580863 15489334,12477932,11161788,10718198 57567 NM_020807,AC010543,CH471092,BC093919,BC101767,AB037809 NP_065858,EAW82961,BAA92626,AAH93919,AAI01768,Q9P2F9,ABZ92364 Hs.129268 MGC126816|ZFP319 zinc finger protein 319 protein-coding 1350572 ZNF32 zinc finger protein 32 1580863 15489334,15164054,12477932,9475118,8500793,2288909,1946370,17474147 7580 NM_006973,NM_001005368,AL645634,CH471160,AI871265,AK312132,BC022842,BG477527,BM127643,CB067143,CD367311,CR624115,CR626696,U69645,X52361 NP_008904,NP_001005368,CAH73489,EAW86609,EAW86610,EAW86611,BAG35068,AAH22842,AAB09561,CAA36587,P17041,ABZ92250 Hs.522885 KOX30 C2H2-546|zinc finger protein 32|zinc finger protein 32 (KOX 30)|zinc finger protein 32 (kox 30)|zinc finger protein KOX30 protein-coding 1605850 ZNF320 zinc finger protein 320 ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM] 14702039,12477932,11536051 162967 NM_207333,AC010487,CH471135,AF086262,AK054877,AK094328,AK095630,AK096348,AK129992,AL831902,BC064408,BC105738,BC131555,CR933622 NP_997216,EAW72101,EAW72102,BAC85270,CAD38570,AAI31556,CAI45933,A2RRD8,Q6ZP55 Hs.369632 DKFZp686G16228|ZFPL zinc finger gene 320|zinc finger protein 320|zinc finger protein like protein-coding 1605491 ZNF321 zinc finger protein 321 14702039,12477932 399669 NM_203307,AC010487,CH471135,AK096828,BC046449,BC119627,BC119628 NP_976052,EAW72104,EAW72105,BAC04871,AAH46449,AAI19628,AAI19629 Hs.655592,Hs.675715 DKFZp781C2298|FLJ39509|MGC35402|ZNF321|ZNF321P KRAB domain-containing protein ZNF321|zinc finger protein 321|zinc finger protein 321, pseudogene pseudo 1347331 ZNF322A zinc finger protein 322A ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM] 15555580,15489334,14702039,12477932,20379614 79692 NM_024639,AL513548,CH471087,CS185637,AK027046,AK290038,AY376736,BC050425,BC074772,BC119669,BC139750 ABZ92058,NP_078915,EAW55594,EAW55595,EAW55596,CAJ42818,BAB15637,BAF82727,AAQ85127,AAH50425,AAH74772,AAI19670,Q6U7Q0 Hs.126280 FLJ23393|HCG12|ZNF322|ZNF388|ZNF489|bA457M11.2|bA457M11.3 HLA complex group 12|OTTHUMP00000215822|OTTHUMP00000215823|OTTHUMP00000215824|zinc finger protein 322A|zinc finger protein 388|zinc finger protein 489 protein-coding 1350144 ZNF322B zinc finger protein 322B 15164053,12477932 387328 NM_199005,AL590705,BC058829,BC070371,BC107578 NP_945356,CAI14725,Q5SYY0 Hs.530271,Hs.648180 FLJ23393|ZNF322 zinc finger protein 322B protein-coding 1605639 ZNF323 zinc finger protein 323 ZNF323 is a member of the subfamily of C2H2 Kruppel-like zinc finger transcription factors that have a SCAN box domain (Pi et al., 2002 [PubMed 12147252]).[supplied by OMIM] 18029348,16344560,14702039,14574404,12477932,12147252,9373149,8125298 64288 DA875036,NM_145909,NR_024165,NM_030899,NR_024164,NM_001135216,AL021997,CH471081,AF513019,AK027060,AK057702,AK095261,AK225382,AL833416,AL833617,BC008490,BC065241,NM_001135215 AAH65241,Q6P178,Q8N3P9,Q96LW9,Q96QL1,Q9H5I3,ABZ92202,NP_001128687,NP_665916,NP_112161,NP_001128688,CAA17574,EAX03152,EAX03153,EAX03154,EAX03155,EAX03156,AAM47006,BAB15643,BAB71548,BAG53016,CAD38641,AAH08490 Hs.656413 FLJ23407|ZNF20-Lp|ZNF310P|dJ874C20.2 OTTHUMP00000211141|zinc finger protein 310 pseudogene|zinc finger protein 323 protein-coding 1315356 ZNF324 zinc finger protein 324 1580863 17081983,14702039,12477932,11779640 25799 AK092341,BC007717,NM_014347,AC012313,CH471135,AF060503,AF075117,AK023989 BAB14758,BAG52533,AAH07717,O75467,Q96I98,Q9H861,NP_055162,EAW72594,EAW72595,EAW72596,AAC33716 Hs.515660 ZF5128|ZNF324A zinc finger protein 324A|zinc finger protein ZF5128 protein-coding 1603828 ZNF324B zinc finger protein 324B 14702039,12477932,8889548 388569 NM_207395,AC012313,CH471135,AK127750,AK131452,BC140881,BC140882,BM714371,BX648711 NP_997278,EAW72593,BAC87113,BAD18597,AAI40882,AAI40883,CAH10556,Q6AW86 Hs.186970 FLJ45850 zinc finger protein 324B protein-coding 1346383 ZNF325 zinc finger protein 325 51711 Q9ULZ6 NM_016265,AB021643 1601703 ZNF326 zinc finger protein 326 16710414,16344560,15635413,15489334,12477932 284695 NM_182976,NM_182975,AL161797,AL391497,CH471097,AA857943,AK000410,AK297073,AK303707,BC013102,BC014899,BC038454,BC052645,BC053888,BC061521,BC070341,BC090866,BU521884,DB111509 NP_892021,NP_892020,CAI23073,CAI23074,CAH72228,CAH72229,CAH72230,EAW73125,EAW73126,EAW73127,EAW73128,BAG59592,BAG64691,AAH52645,AAH53888,AAH70341,AAH90866,Q5BKZ1 Hs.306221 FLJ20403|MGC61591|ZAN75|Zfp326|dJ871E2.1 OTTHUMP00000012404|dJ871E2.1 (novel protein (ortholog of mouse zinc finger protein Zan75))|zinc finger protein 326 protein-coding 1344348 ZNF328 zinc finger protein 328 64331 1348045 ZNF329 zinc finger protein 329 14702039,12477932,15231748 79673 NM_024620,AC008751,CH471135,AF085857,AK022648,AK090893,AK095349,AK096542,BC047501 NP_078896,EAW72560,EAW72561,EAW72562,EAW72563,BAB14154,BAG52244,BAG53319,AAH47501,Q86UD4,ABZ92057 Hs.458377 FLJ12586 zinc finger protein 329 protein-coding 1351199 ZNF32OS1 zinc finger protein 32 opposite strand 1 414197 AL645634 bA402L1.8 zinc finger protein 32 opposite strand 1 protein-coding 1346935 ZNF32OS2 zinc finger protein 32 opposite strand 2 414208 AL645634 b402L1.7 zinc finger protein 32 opposite strand 2 protein-coding 1316746 ZNF330 zinc finger protein 330 1580863 10593942,15231747,16344560,15592455,15489334,14702039,12477932,11528117,9373149,8125298,19895853,20585324 27309 AC107220,AJ404873,CH471056,AJ006591,AK002106,AK223609,AK294089,AK315463,BC004421,DA089047,NM_014487 NP_055302,CAC18679,EAX05089,CAB43112,BAD97329,BAG57430,BAG37850,AAH04421,Q53EN0,Q9Y3S2,ACE87739,ACE87058 Hs.120766 HSA6591|NOA36 OTTHUMP00000220135|OTTHUMP00000220137|nucleolar autoantigen 36|nucleolar cysteine-rich protein|zinc finger autoantigen 330|zinc finger protein 330 protein-coding 1344097 ZNF331 zinc finger protein 331 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form one family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 14610350,12477932,11267678,10502321,16344560,15489334,15147412,14702039,20379614 55422 NM_018555,NM_001079906,NM_001079907,AC011487,CH471135,AF086105,AF251515,AF272148,AF412398,AF412399,AF412400,AF412401,AF412402,AF412403,AF412404,AK075226,AK128736,AK312889,BC009365,BC009433,BF057584,CR612880,CR749560,DA123838 NP_061025,NP_001073375,NP_001073376,EAW72144,EAW72145,EAW72146,EAW72147,EAW72148,AAF70179,AAF78075,AAQ03245,AAQ03246,AAQ03247,AAQ03248,AAQ03249,AAQ03250,AAQ03251,BAC11485,AAH09365,AAH09433,CAH18357,Q68D63,Q6PK05,Q71QC3,Q71QC4,Q71QC5,Q71QC6,Q71QC8,Q71QC9,Q8NBU2,Q9NQX6,ABZ92345 Hs.185674 DKFZp686L0787|RITA|ZNF361|ZNF463 C2H2-like zinc finger protein rearranged in thyroid adenomas|KRAB zinc finger protein|OTTHUMP00000223038|OTTHUMP00000223039|OTTHUMP00000223040|OTTHUMP00000223042|OTTHUMP00000223043|OTTHUMP00000223044|OTTHUMP00000223046|OTTHUMP00000223047|OTTHUMP00000223048|OTTHUMP00000223049|OTTHUMP00000223050|OTTHUMP00000223051|OTTHUMP00000223052|OTTHUMP00000223053|OTTHUMP00000223054|zinc finger protein 331|zinc finger protein 361|zinc finger protein 463 protein-coding 1352601 ZNF333 zinc finger protein 333 1580863 11347906,15607024,14702039,12477932,12151103 84449 NM_032433,AC090427,CH471106,AB058709,AF372702,AK094028,AK095142,AK122817,AK291471,AK307147,AK309208,AL832544,BC012344,BC048107,BC064571,BX647475,CR617489 NP_115809,EAW84442,EAW84443,BAB47435,AAM15528,BAG52800,BAG52992,BAF84160,AAH48107,AAH64571,CAI56712,Q5CZI3,Q6P2E6,Q86WS6,Q96JL9,AAI66674 Hs.515215 KIAA1806 zinc finger protein 333 protein-coding 1318499 ZNF334 zinc finger protein 334 1580863 16189514,15489334,14702039,12477932,11780052 55713 NM_199441,NM_018102,AL034424,AL354745,CH471077,AK001331,AK057717,AK095611,AL833936,BC024177,BC026321,BG720863,BG913079 NP_955473,NP_060572,CAI42502,CAI12459,EAW75732,EAW75733,EAW75734,EAW75735,BAA91630,BAG51955,CAD38791,AAH24177,AAH26321,Q5XKG8,Q8N3P8,Q9HCZ1,ABZ92348 Hs.584933 zinc finger protein 334 protein-coding 732123 ZNF335 zinc finger protein 335 The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq] 1580863 19131338,18180299,15302935,14702039,12477932,12215545,11780052,10737800,20379614 63925 NM_022095,AL162458,CH471077,AF395833,AK026157,AK027358,AK054694,AK074214,AK092485,AK122963,AK296989,BC041331,BC142981,BF755826 NP_071378,CAC10457,EAW75777,AAN09900,BAB15379,BAG59529,AAH41331,Q8IW09,Q9H4Z2,AAI66679 Hs.174193 NIF-1|NIF1|NIF2 NRC-interacting factor 1|zinc finger protein 335|zinc-finger/leucine-zipper co-transducer NIF1 protein-coding 1354357 ZNF337 zinc finger protein 337 1580863 16189514,15489334,14702039,12477932,11780052,16169070 26152 NM_015655,AL031673,CH471133,AK056184,AK056466,AK125455,AK291235,AK299811,AL049942,BC021298,BC034569,CR621860 NP_056470,CAB43548,EAX10077,EAX10078,BAG51641,BAG51720,BAC86169,BAF83924,BAG61684,CAB43216,AAH21298,Q6ZUQ0,Q9Y3M9 Hs.633621,Hs.661684 OTTHUMP00000030501|zinc finger protein 337 protein-coding 1351426 ZNF33A zinc finger protein 33A 1580863 8464732,16344560,15164054,12766061,12535642,12477932,7584044,2014798 7581 NM_006954,NM_006974,AL117337,AL161931,CH471072,X68686,X68689,AF063599,AF086531,AK027057,AK292844,AK303445,AY184389,BC017760,BC030511,BC126119,CD679489,D31763,DB235703,X68687 NP_008885,NP_008905,CAH73315,CAH69953,EAW85888,EAW85889,EAW85890,EAW85891,EAW85892,EAW85893,EAW85894,CAA48645,CAA48648,AAG43158,BAB15642,BAF85533,BAG64490,AAO24702,AAH17760,AAH30511,AAI26120,BAA06541,CAA48646,A0AUX1,Q05D89,Q06730,Q8N6F5,Q9H3I5,ADR83385 Hs.435774 FLJ23404|KIAA0065|KOX2|KOX31|KOX5|NF11A|ZNF11|ZNF11A|ZNF33|ZZAPK brain my041 protein|zinc finger and ZAK associated protein with KRAB domain|zinc finger and ZAK-associated protein with KRAB domain|zinc finger protein 11A|zinc finger protein 33A|zinc finger protein 33a (KOX 31)|zinc finger protein 33a (kox 31)|zinc finger protein KOX31 protein-coding 1347257 ZNF33B zinc finger protein 33B 1580863 15489334,15164054,14702039,12566394,12477932,8464732,2288909,2014798,1639412,16169070,16385451 7582 AL022345,X68685,X68688,AF222749,AJ491697,AK025638,AK096683,AK304306,AK309564,NM_006955,AK310073,BC035770,BC036398,BC048313,BC065181,BC107726,BC109232,BC160932,CR619942,X52333,X68684 NP_008886,CAI23623,CAA48644,CAA48647,AAF26452,CAD36956,BAG65159,AAH48313,AAH65181,AAI07727,CAA36559,CAA48643,Q06732,Q3B799,Q6P1A4,Q9NZ00 Hs.499453 FLJ23327|KOX2|KOX31|MGC129696|ZNF11B zinc finger protein 11b (KOX 2)|zinc finger protein 33B|zinc finger protein 33b (KOX 31)|zinc finger protein 33b (kox 31)|zinc finger protein KOX2 protein-coding 3081780 ZNF33CP zinc finger protein 33C, pseudogene 79231 AL117337,NG_002659 BA393J16.4 pseudo 1343773 ZNF34 zinc finger protein 34 1580863 8104631,2014798,16381901,15489336,15489334,14702039,12477932,11230166,11076863,20379614 80778 NM_030580,AF235103,CH471162,AF086227,AK096508,AL833814,BC004480,BC028136 NP_085057,EAW82055,EAW82056,EAW82057,EAW82058,BAG53308,CAD38677,AAH04480,AAH28136,Q8IZ26,CAL37706 Hs.631854 KOX32|MGC10520 zinc finger protein 34|zinc finger protein 34 (KOX 32)|zinc finger protein 34 (kox 32)|zinc finger protein KOX32 protein-coding 1346802 ZNF341 zinc finger protein 341 1580863 15231748,14702039,12477932,11780052,18029348,20881960 84905 NM_032819,AL050349,CH471077,AK027550,AK095848,AK096755,AK122943,BC040440,BC063492,BC094738,BC132873,BC144188,BC146811,BC157823,CR626376 NP_116208,CAI21796,EAW76295,EAW76296,EAW76297,BAB55193,BAG53359,AAH94738,AAI32874,AAI44189,AAI46812,AAI57824,Q504V9,Q9BYN7,ADR83415 Hs.516989 zinc finger protein 341 protein-coding 1344905 ZNF343 zinc finger protein 343 15489334,14702039,12477932,11780052 79175 NM_024325,AL049650,AL133339,CH471133,AK055734,AK096911,BC002897,BC011862,BC065009 NP_077301,CAB46713,CAI22572,CAI22573,CAI22574,EAX10594,EAX10595,BAB71000,BAC04892,AAH02897,AAH11862,AAH65009,Q6P1L6 Hs.516846 FLJ39592|MGC10715|MGC20504|dJ734P14.5 OTTHUMP00000030027|OTTHUMP00000030029|OTTHUMP00000030030|zinc finger protein 343 protein-coding 1350063 ZNF345 zinc finger protein 345 1580863 9278146,15489334,14702039,12477932,7865130 25850 NM_003419,AC008733,AC020928,AK094146,AK315069,BC010386,BC032863,X78933 NP_003410,BAG52826,BAG37541,AAH32863,CAA55533,Q14585,ABZ92018 Hs.362324 HZF10 zinc finger protein 345|zinc finger protein HZF10 protein-coding 1317625 ZNF346 zinc finger protein 346 The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. [provided by RefSeq] 1580863 11256614,18029348,10488071,16381901,15489336,15489334,15254228,14702039,12477932,11230166,11076863 23567 CH471195,AF083340,AK024650,AK026627,AK131469,AK295549,AK297448,AK300065,AK300738,AL359576,BC007775,CB988061,CR623080,CR749692,AC027317,NM_012279 EAW85038,EAW85039,EAW85040,AAD52018,BAD18614,BAH12103,BAH12584,BAH13202,BAH13338,AAH07775,CAH18475,Q9UL40,CAL37677,CAL38643,NP_036411 Hs.484259 DKFZp547M223|JAZ|Zfp346 OTTHUMP00000223533|OTTHUMP00000223535|OTTHUMP00000223537|double-stranded RNA-binding zinc finger protein JAZ|just another zinc finger protein|zinc finger protein 346 protein-coding 1343280 ZNF347 zinc finger protein 347 1580863 14702039,12477932,16344560 84671 AC010328,AC092070,CH471135,AK095593,AK096623,AK289994,AK314603,AL713691,AY029765,BC002938,BC015611,BC136255,BC143412,NM_032584,AA776564,AA978292,AI366675,DB214217,DB316074,NM_001172674,NM_001172675 NP_115973,EAW72119,EAW72120,EAW72121,BAG53339,BAF82683,BAG37173,CAD28491,AAK37403,AAI36256,Q96SE7,NP_001166145,NP_001166146 Hs.467239 ZNF1111 zinc finger 1111|zinc finger protein 1111|zinc finger protein 347 protein-coding 1320503 ZNF35 zinc finger protein 35 1580863 1572646,2108922,15489334,15342556,12477932,7814019,3380682,8477855 7584 NM_003420,AC099669,AC124045,CH471055,L35269,AK314821,BC013597,BC015892,BP237260,BT006962,X07289,AK300581 NP_003411,EAW64715,EAW64716,AAA85451,BAG37343,AAH13597,AAP35608,CAA30268,P13682,BAG62280 Hs.288658 HF.10|HF10|Zfp105 OTTHUMP00000209722|OTTHUMP00000209724|zinc finger protein 35|zinc finger protein 35 (clone HF.10)|zinc finger protein HF.10 protein-coding 1342631 ZNF350 zinc finger protein 350 1580863 17079232,11090615,18029348,19484476,19279087,18950845,18676680,17764113,17557904,16997916,16485136,16344560,15596820,15496401,15113441,14702039,14660588,14517299,12872252,12477932,11161714,8889548,14755250,14690447,15231748,19170196,19625176,19692168,19996286,20007691,20150366,20221260,20306497,20644561,20713352 59348 NM_021632,AC011460,CH471135,AF295096,AF309561,AK021864,AK023467,AU135269,BC009921,BM674621 NP_067645,EAW72056,AAG17439,AAG25714,BAB14583,AAH09921,Q9GZX5,ABM84000,ABM87330 Hs.407694 ZBRK1|ZFQR KRAB zinc finger protein ZFQR|zinc finger and BRCA1-interacting protein with a KRAB domain 1|zinc finger protein 350|zinc finger protein ZBRK1|zinc-finger protein ZBRK1 protein-coding 1353304 ZNF354A zinc finger protein 354A 1300202,2291889,1580863 8986806,9919311,14760703,12477932,10842194,9465904,8889548,8382778,12943985,20628624 1300202,2291889 6940 NM_005649,AC113348,CH471165,AF116030,AK290711,BC036517,BC047105,BU685427,CR595568,D89928 NP_005640,EAW53830,AAD05335,BAF83400,AAH47105,BAA25182,O60765,Q86Y64,ABZ92435 Hs.484324 EZNF|HKL1|KID-1|KID1|TCF17 TCF-17|transcription factor 17|zinc finger protein 354A|zinc finger protein eZNF protein-coding 1346578 ZNF354B zinc finger protein 354B 1580863 15489334,14702039,12477932 117608 NM_058230,AC126915,CH471165,AA599717,AI683630,AK057737,AK289667,BC022190,BC036466,BC104777,BC112111 NP_478137,EAW53828,BAB71556,BAF82356,AAI04778,AAI12112,Q96LW1,ABZ92127 Hs.724051 FLJ25008|KID2|MGC138316 zinc finger protein 354B protein-coding 736972 ZNF354C zinc finger protein 354C 15555547,15489334,12477932,10786630 30832 NM_014594,AC104117,CH471165,AF395540,AF525463,AL137483,BC063312 NP_055409,EAW53817,AAM69676,AAO83897,CAB70764,AAH63312,Q86Y25,Q9NT78 Hs.272328 KID3 KRAB-zinc finger protein synten|hKID3|kidney, ischemia, and developmentally-regulated protein 3|zinc finger protein 354C protein-coding 1349739 ZNF355P zinc finger protein 355, pseudogene 10830953,1740334 378812,378812 AL163202 CAB90395,Q9NSJ1 PRED65|ZNF834 pseudo 1321306 ZNF358 zinc finger protein 358 1580863 14702039,15489334,12477932,12036583,11013137 140467 NM_018083,AC008878,CH471139,AK001252,BC003585,BC014002,BI601846,C15772,CR623119 NP_060553,EAW69035,BAA91582,AAH03585,AAH14002,Q9NW07,ABZ92101 Hs.133475 FLJ10390|ZFEND OTTHUMP00000196562|zinc finger protein 358 protein-coding 1345042 ZNF35P zinc finger protein 35 (clone HF.10) pseudogene 1572646 7585 1602182 ZNF362 zinc finger protein 362 12477932,10737800 149076 AW204855,BC065039,BC071632,BC103704,BC104779,BC112113,BF743001,BX283663,CR596935,NM_152493,AL513327,CH471059,AF318356,AK098342 BAC05287,AAI04780,AAI12114,Q5T0B9,Q8N7J3,ABZ92113,NP_689706,CAI13953,EAX07464,AAL55863 Hs.726221 FLJ25476|MGC138318|RN|lin-29 flj25476 protein|rotund homolog|zinc finger protein 362 protein-coding 1605085 ZNF365 zinc finger protein 365 16682949,18587394,16617106,15489334,15363853,15164054,12740763,12477932,11309680,10048485,16385451,17554300,20222910,20379614,19191256,21102463,20453838,19760754,21072187 22891 NM_199450,NM_014951,NM_199452,AC024597,AC024598,AC067751,AC067752,AY547355,CH471083,CQ866772,AB020651,AJ505147,AJ505148,AJ505149,AJ505150,AK289515,AK289808,BC017841,BC035049,BC044306,BC060817,BC070073,BC101082,BC101083,BC101084,BC101085,BF512570,BX647853,BX647904,DB476702,NM_199451,NG_021209 NP_955523,NP_955522,NP_055766,NP_955524,AAT27443,EAW54233,EAW54234,CAH25993,BAA74867,CAD43726,CAD43727,CAD43728,CAD43729,BAF82204,BAF82497,AAH17841,AAH35049,AAH60817,AAI01083,AAI01084,AAI01085,AAI01086,CAI46100,Q05D75,Q08ER3,Q495P1,Q70YC4,Q70YC5,AAI52973,AAI56629 Hs.22653 KIAA0844|MGC41821|MGC87345|Su48|UAN|ZNF365D protein ZNF365|talanin protein-coding 1314635 ZNF366 zinc finger protein 366 1580863 19525478,17903296,17085477,16393996,16381901,15489336,14702039,12477932,12234665,11230166,11076863,20379614 167465 NM_152625,AC008457,AC093278,CH471084,AK097115,BC029955,BC121053,BC121054,BK000210,BX647592 NP_689838,EAW95707,BAC04954,AAI21054,AAI21055,DAA00066,CAI46096,Q0VAH5,Q5HYI9,Q8N895,CAL37884 Hs.370303 DCSCRIPT|FLJ39796 zinc finger protein 366 protein-coding 1316151 ZNF367 zinc finger protein 367 1580863 15344908,14702039,12477932,12234665,18029348 195828 NM_153695,AL133477,AL160269,CH471174,AK091289,AY554164,AY554165,BC126141,BK000211,BX116676,DR000756 NP_710162,CAI39622,EAW92649,EAW92650,AAS66302,AAS66303,AAI26142,DAA00067,Q7RTV3 Hs.494557 CDC14B|FLJ33970|ZFF29 C2H2 zinc finger protein ZFF29|C2H2 zinc finger protein ZFF29a|CDC14 cell division cycle 14 homolog B|zinc finger protein 367 protein-coding 1352896 ZNF37A zinc finger protein 37A 1580863 8464732,15489334,15164054,14702039,12566394,12477932,2288909,2014798 7587 NM_001007094,NM_003421,AL117339,CH471072,AA742606,AJ492195,AK092012,AK130521,BC015858,BX647089,CR613175,X52352,X69115,AL708537,NM_001178101 NP_001007095,NP_003412,CAI14947,EAW85884,EAW85885,EAW85886,EAW85887,CAD37331,BAG52465,AAH15858,CAA36578,CAA48868,P17032,ACE87359,ACE86674,NP_001171572 Hs.292575 FLJ3472|KOX21|ZNF37 zinc finger protein 37A|zinc finger protein 37a (KOX 21)|zinc finger protein 37a (kox 21)|zinc finger protein KOX21 protein-coding 1606933 ZNF37B zinc finger protein 37B (pseudogene) 8889548,8464732,2014798,12477932,11181995,16344560,14702039 100129482 NR_026777,AL022345,CH471160,AK026980,AK123297,AK308832,BC045697,BU686118,DA394347,DB258164 EAW86559,EAW86560,EAW86561,EAW86562 Hs.278064,Hs.684178 FLJ23327|FLJ41303|FLJ98873|KOX21|ZNF37B pseudo 2796115 ZNF37C zinc finger protein 37C (pseudogene) 79232 AL132659,NG_002660 BA775A3.1 pseudo 1349378 ZNF381P zinc finger protein 381, Y-linked pseudogene 12815422,9847074 246123 NG_004755,AC010088 pseudo 1352355 ZNF382 zinc finger protein 382 Members of the C2H2 zinc finger transcription factor family, such as ZNF382, play key roles in the regulation of cell proliferation, differentiation, and apoptosis in response to a variety of stimuli (Gebelein et al., 1998 [PubMed 9835615]).[supplied by OMIM] 1580863 14702039,12477932,12459182,11154279,9835615,20682794 84911 NM_032825,AC074138,AC092295,AF513816,AK027592,AL832265,AY227449,BC038358,BC132675,CD690493 NP_116214,AAM48246,BAB55217,CAI46159,AAO72308,AAI32676,Q96SR6,AAI56540,AAI72501 Hs.631591 FLJ14686|KS1 KRAB/zinc finger suppressor protein 1|OTTHUMP00000208122|OTTHUMP00000208123|multiple zinc finger and krueppel-associated box protein KS1|multiple-zinc-finger-Kruppel-associated box protein KS1|zinc finger protein 382 protein-coding 1323532 ZNF383 zinc finger protein 383 1580863 15964543,14702039 163087 NM_152604,AC012309,AK091760,AK093182,AK122892,AY260141,AY438646 NP_689817,BAG52412,BAC04086,AAP20067,AAR14184,Q8NA42,AAI48613 Hs.590975 FLJ35863|HSD17 zinc finger protein 383 protein-coding 1345674 ZNF384 zinc finger protein 384 This gene contains long CAG trinucleotide repeats coding consecutive glutamine residues. The gene product may functions as a transcription factor, with a potential role in the regulation of neurodevelopment or neuroplasticity. The protein appears to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Multiple transcript variants encoding several isoforms have been found for this gene. [provided by RefSeq] 1299380,1580863 18029348,18185522,16510139,15990865,15342556,14702039,12477932,12359745,11956602,11862394,11149472,9225980,19426707,19454010,20211142 1299380 171017 NM_001039919,NM_001039920,NM_001039917,NM_001039918,NM_133476,NM_001039916,NM_001135734,AB070238,AC125494,CH471116,AK095734,AK298784,AK298962,AL047622,AL047623,BC053361,BP312309,BP363856,BX401142,CR590137,CR993835,DQ323638,U80738 NP_001035008,NP_001035009,NP_001035006,NP_001035007,NP_597733,NP_001035005,NP_001129206,BAB85125,EAW88755,EAW88756,EAW88757,EAW88758,EAW88759,EAW88760,BAC04618,BAG60923,BAG61058,AAH53361,ABD27869,Q8TF68,AAB91437 Hs.103315,Hs.714839,Hs.708126 CAGH1|CAGH1A|CIZ|ERDA2|FLJ59043|NMP4|NP|TNRC1 CAG repeat protein 1|Cas-interacting zinc finger protein|expanded repeat domain, CAG/CTG 2|nuclear matrix protein 4|nuclear matrix transcription factor 4|trinucleotide repeat containing 1|trinucleotide repeat-containing gene 1 protein|zinc finger protein 384 protein-coding 1349259 ZNF384OS zinc finger protein 384 opposite strand 404213 U80760 1315468 ZNF385A zinc finger protein 385A Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM] 1580863 17719541,16344560,15527981,15489334,14702039,12477932,11927637,10585558 25946 NM_001130968,NM_001130967,NM_015481,AC078778,AC079313,CH471054,AF304052,AK024404,AK092724,AK296564,AK315613,AL117462,BC029752,CR457327,CR599917,DB116264,AY461717 NP_001124440,NP_001124439,NP_056296,EAW96777,EAW96778,EAW96779,AAL08625,BAB14910,BAG59184,BAG37982,CAB55938,AAS19275,AAH29752,CAG33608,Q96PM9 Hs.505653 DKFZp586G1122|HZF|RZF|ZFP385|ZNF385 hematopoietic zinc finger protein|retinal zinc finger protein|zinc finger protein 385|zinc finger protein 385A protein-coding 1322504 ZNF385B zinc finger protein 385B 737633 20379614,19401682,19240061,16344560,15489334,14702039,12477932,20849254 737633 151126 NM_152520,NM_001113397,NM_001113398,AC062033,AC068042,AC092642,AC093604,CH471058,AK057999,AK096822,AK131432,BC033042,BC038422,BC048123,BC092423,BX443173,DA993893 NP_689733,NP_001106868,NP_001106869,AAY24285,AAY24322,AAY24346,EAX11005,BAB71629,BAC04870,BAD18578,AAH38422,AAH48123,AAH92423,Q53R81,Q53S82,Q569K4 Hs.655005 FLJ25270|ZFN533|ZNF533 OTTHUMP00000206077|OTTHUMP00000206078|OTTHUMP00000206079|OTTHUMP00000206102|OTTHUMP00000206106|zinc finger protein 385B|zinc finger protein 533 protein-coding 1604507 ZNF385C zinc finger protein 385C 15146197,12477932 201181 CN264203,H06009,XM_002343558,XM_002347765,XM_002345029,AC105024,BC067901,BC080613,XM_003118752,XM_003119676,XM_003120881 Q66K41,XP_002343599,XP_002347806,XP_002345070,AAH80613,XP_003118800,XP_003119724,XP_003120929 Hs.443140 OTTHUMP00000211618|OTTHUMP00000211619|zinc finger protein 385C protein-coding 1354143 ZNF385D zinc finger protein 385D 737633,1580863 15489334,14702039,12477932,20522523,17207965,18711365,20379614 737633 79750 NM_024697,AC009429,AC092504,AC096914,AC104183,CH471055,AK026072,AK310298,BC007212 NP_078973,EAW64312,EAW64313,BAB15350,AAH07212,Q9H6B1,ADQ31786 Hs.21026 FLJ22419|ZNF659 zinc finger protein 385D|zinc finger protein 659 protein-coding 1347253 ZNF389 zinc finger protein 389 8889549 651302 NM_001145129,CH471081,CR611340,W78742,AL022393,AL358933 NP_001138601,EAX03137 Hs.172143 dJ265C24.4 zinc finger protein 389 protein-coding 1606101 ZNF391 zinc finger protein 391 16344560,14702039,12477932 346157 NM_001076781,AL031118,CH471081,AK092633,AK294965,BC132797,BX282552,DB221901,U80232 NP_001070249,CAB51755,EAX03096,BAG58038,AAD00353,O95641,Q9UJN7,AAI56668 Hs.651176,Hs.680366 dJ153G14.3 OTTHUMP00000214625|zinc finger protein 391 protein-coding 1354133 ZNF394 zinc finger protein 394 15489334,15249231,14702039,12690205,12477932,9373149,8125298 84124 CR617042,NM_032164,AC073063,CH236956,CH471091,AJ297365,AK022360,AK172865,AK222948,AY642122,BC017051,BC025241,BC051847,CR614513 NP_115540,EAL23874,EAW76659,CAB95950,BAB14021,BAD96668,AAT67053,AAH17051,AAH25241,AAH51847,Q05DA6,Q53GI3,Q9NQ42,ABZ92205 Hs.386324 FLJ12298|ZKSCAN14 zinc finger protein 394|zinc finger protein 99|zinc finger protein with KRAB and SCAN domains 14 protein-coding 1317282 ZNF395 zinc finger protein 395 1580863 14625278,17897615,17531190,15489334,14702039,12477932,11853404,15289353,19018758 55893 AK026076,AK098243,AK312078,AL137588,BC001237,BC002919,BC008870,BC063660,BG249131,BG759384,BI917232,CB960515,CR594489,AC021678,AC025871,CH471080,AB044750,AB044751,AB044752,AB057659,AB073627,AF263928,AI049727,AK002050,AK021850,AK023418,NM_018660 BAB14571,BAB15352,BAG35014,AAH01237,Q7L9C8,Q9H8N7,ABZ92352,NP_061130,EAW63519,EAW63520,EAW63521,EAW63522,EAW63523,EAW63524,BAA96783,BAA96784,BAA96785,BAB39851,BAD29734,AAF73463,BAA92056,BAG53599 Hs.695998,Hs.435535 DKFZp434K1210|HDBP2|PBF|PRF-1|PRF1|Si-1-8-14 HD gene regulatory region-binding protein 2|HD-regulating factor 2|HDBP-2|HDRF-2|Huntington's disease gene regulatory region-binding protein 2|huntington disease gene regulatory region-binding protein 2|papillomavirus regulatory factor 1|papillomavirus regulatory factor PRF-1|papillomavirus-binding factor|zinc finger protein 395 protein-coding 1347461 ZNF396 zinc finger protein 396 1580863 14702039,12801647,12477932,20211142 252884 NM_145756,AC007998,CH471088,AF492004,AF533251,AK055775,BC036765,BC130288,BC136314 NP_665699,EAX01352,EAX01353,EAX01354,AAM09559,AAM95992,BAB71010,AAI30289,AAI36315,Q96N95,ADR83130 Hs.351005 FLJ31213|ZSCAN14 zinc finger and SCAN domain-containing protein 14|zinc finger protein 396 protein-coding 1314512 ZNF397 zinc finger protein 397 1580863 18369653,18029348,16344560,15489334,14702039,12801647,12477932,1505991 84307 NM_032347,AC011815,CH471088,AF533250,AK027384,AK311533,AY157641,BC006172,CR623021,CR624700,CR624709,DB047444,NM_001135178,AA805259,BI772202,NG_015815 NP_001128650,NP_115723,EAX01341,EAX01342,EAX01343,AAM95991,BAB55075,AAN65175,AAH06172,Q8NF99,Q96K65,ABZ92206 Hs.591061 MGC13250|ZNF47|ZSCAN15 zinc finger and SCAN domain-containing protein 15|zinc finger protein 397|zinc finger protein 47 protein-coding 2290512 ZNF397OS zinc finger protein 397 opposite strand 18029348,14702039,12801647 100101467 BX116643,DC409152,NM_001166012,NM_001112734,AC011815,CH471088,AF303374,AK001503,AK057386,AK128697,AK131291,AK303447,AL832180,AY234408 NP_001159484,BAD18462,NP_001106205,EAX01344,AAL26786,BAG64492,AAO89074,Q86W11 Hs.720483 FLJ16245|FLJ46864|ZNF397OS|ZNF917 ZNF-WYM|ZNF397 opposite strand|zinc finger and SCAN domain-containing protein 30|zinc finger protein 397 opposite strand|zinc finger protein 397OS protein-coding 1345407 ZNF398 zinc finger protein 398 This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq] 1580863 11779858,15489334,12853948,12477932,10718198,12690205 57541 NM_170686,AACC02000041,AC004890,AC073422,CH471146,CQ834816,AB037760,AK026380,AK290499,AK301890,AK304369,AK304603,AY049742,AY049743,AY049744,NM_020781,BC043295,BE670664 NP_065832,NP_733787,EAL24428,EAL24429,EAW80057,EAW80058,EAW80059,EAW80060,CAH05623,BAA92577,BAF83188,BAG63321,BAG65208,BAG65389,AAK92788,AAK92789,AAH43295,Q8TD17 Hs.632032 KIAA1339|P51|P71|ZER6 OTTHUMP00000213762|OTTHUMP00000213764|OTTHUMP00000213765|zinc finger DNA binding protein ZER6|zinc finger DNA binding protein p52/p71|zinc finger DNA-binding protein p52/p71|zinc finger protein 398|zinc finger-estrogen receptor interaction, clone 6 protein-coding 1348699 ZNF39L2 zinc finger protein 39-like 2 (KOX 27) 2014798 7591 1343788 ZNF402P zinc finger protein 402 pseudogene 266673 NG_002664,AC006548,AC007064 pseudo 1346088 ZNF404 zinc finger protein 404 12743021,12477932,8889548 342908 NM_001033719,AC011508,CH471126,AK300120,AY166785,BC101332,BC101333,BQ188692 NP_001028891,EAW57234,BAG61912,AAO45834,AAI01333,AAI01334,Q494X3,Q86WM5 Hs.76561 MGC120455 zinc finger protein 404 protein-coding 1346738 ZNF405P zinc finger protein 405 pseudogene 20125193 319123 NG_002504,AL606834 pseudo 1344883 ZNF407 zinc finger protein 407 1580863 19913121,20628086,16344560,14702039,11214970,19690890,20379614 55628 NM_017757,NM_001146189,NM_001146190,AC015819,AC023380,AC091589,AC100783,AC138660,CH471117,AB051490,AK000314,AK000317,AK023901,AK056288,AK128356,DB096147,NG_013216 NP_060227,NP_001139661,NP_001139662,EAW66565,EAW66566,BAB21794,BAA91077,BAA91080,BAB71139,Q9C0G0 Hs.536490 FLJ13839|FLJ20307|KIAA1703 zinc finger protein 407 protein-coding 1315189 ZNF408 zinc finger protein 408 1580863 16344560,18255255,19060904,19801982,15231747,16189514,15489334,14702039,14667819,12477932 79797 AK302180,AW246726,DA015297,NM_001184751,BC013355,BC015708,CR603963,CR606317,NM_024741,AC115088,CH471064,AF346626,AK022889 ACT64457,ACT64458,BAG63546,NP_001171680,AAH13355,AAH15708,Q9H9D4,ABZ92061,NP_079017,EAW67981,AAK29075,BAB14295 Hs.726461 FLJ12827 PR domain zinc finger protein 17|zinc finger protein 408 protein-coding 1321155 ZNF409 zinc finger protein 409 1580863 18029348,10470851 22830 XM_375065,XM_941446,AL135999,AB028979,BC131533 XP_375065,XP_946539,BAA83008,AAI31534,Q9UPU6 Hs.508937 FLJ42478 protein-coding 1346984 ZNF41 zinc finger protein 41 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. Several alternatively spliced transcript variants have been described, however, the full-length nature of only some of them is known. [provided by RefSeq] 1580863 15772651,15489334,15231748,14628291,12477932,10449920,8088786,2037297,1945843 7592 AK290021,X60155,AK294858,BC015023,NM_153380,NG_008238,AL590223,AL590283,CH471164,M92443,AB209520,AJ010017,AJ010018,AJ010019,AJ010020,AJ010021,AJ010022,AJ010023,NM_007130 BAF82710,BAG57962,AAH15023,CAB51740,P51814,Q59FE0,ABZ92439,NP_009061,NP_700359,CAI41591,CAI41592,CAI41627,CAI41628,EAW59300,EAW59301,EAW59302,EAW59303,EAW59304,EAW59305,EAW59306,EAW59307,EAW59308,AAA61312,BAD92757,CAB53035,CAB53036,CAB53037,CAB53038,CAB53039,CAB53040,CAB53041 Hs.496074 MGC8941|MRX89 OTTHUMP00000023221|zinc finger protein 41 protein-coding 1313783 ZNF410 zinc finger protein 410 18470879,15489334,12477932,12370286,9373149,9110174,8619474,8125298,16169070,20379614 57862 NM_021188,AC005480,AC005520,CH471061,AK223261,AK309957,AK310031,AK315206,BC000330,BC004357,BC050683,CR610987,U90919,AK293350,AK298307,AK298520,AK299138,AK301382,AK303834,AK304609 NP_067011,EAW81136,EAW81137,EAW81138,EAW81139,EAW81140,EAW81141,EAW81142,EAW81143,BAD96981,BAG37643,AAH50683,AAB51059,Q53FM1,Q86VK4,ABZ92368,BAG56866,BAG60561,BAG60724,BAG61190,BAG62922,BAG64780,BAG65394 Hs.270869 APA-1|APA1 another partner for ARF 1|clones 23667 and 23775 zinc finger protein|zinc finger protein 410|zinc finger protein APA-1 protein-coding 1603942 ZNF414 zinc finger protein 414 16189514,15489334,12477932,9373149,16344560 84330 NM_032370,AC092298,CH471139,AK074191,AK225034,BC007310,BC071937,AI937020,BM141801,BQ773835,BU621653,DA257941,NM_001146175 NP_115746,EAW68913,EAW68914,EAW68915,EAW68916,AAH07310,AAH71937,Q96IQ9,ABZ92068,NP_001139647 Hs.515114 MGC15716|ZFP414|Zfp414 zinc finger protein 414 protein-coding 1350513 ZNF415 zinc finger protein 415 1580863 17055453,16344560,14702039,12477932,9110174,8619474,18029348 55786 DA367299,DA518713,DA692431,DB285275,DQ925695,DQ925696,DQ925697,DQ925698,R40095,NM_001136038,NM_001164309,NR_028343,AC010328,CH471135,AF038179,AK002053,AK095504,AL534796,AY283600,BC063880,BC069668,CR621541,DA075573,NM_018355 ABI51309,ABI51310,ABI51311,ABI51312,Q09FC8,ABZ92349,NP_060825,NP_001129510,NP_001157781,EAW72115,EAW72116,EAW72117,EAW72118,BAA92059,BAG53073,AAP35086,AAH63880,AAH69668 Hs.147765 FLJ11191 zinc finger protein 415 protein-coding 1346172 ZNF416 zinc finger protein 416 15489334,14702039,12477932 55659 AC003682,CH471135,AK000564,BC000130,NM_017879 AAC24607,EAW72514,EAW72515,BAA91257,AAH00130,O43338,Q9BWM5,ABZ92347,NP_060349 Hs.247711 FLJ20557 zinc finger protein 416 protein-coding 1344195 ZNF417 zinc finger protein 417 16189514,15489334,15342556,12477932 147687 NM_152475,AC010326,CH471135,AK293789,BC025783,BC103757,BP358797 NP_689688,EAW72541,BAG57202,AAH25783,Q8TAU3 Hs.567710 MGC34079 zinc finger protein 417 protein-coding 1353630 ZNF418 zinc finger protein 418 1580863 18084723,15489334,14702039,12477932,11853319,20936779 147686 NM_133460,AC010326,CH471135,AB075836,AK056113,AY695825,BC112244,BC113707,AK293723,AK304632 NP_597717,EAW72542,BAB85542,BAB71096,AAU05132,AAI12245,AAI13708,Q8TF45,BAH11579,BAH14229,ADR83116,ADR83237 Hs.660728 FLJ31551|KIAA1956|MGC138449 zinc finger protein 418 protein-coding 1602863 ZNF419 zinc finger protein 419 20379614,18029348,16344560,15489334,15342556,14702039,12477932 79744 AK316156,AK316297,NM_001098491,NM_001098494,NM_024691,NM_001098492,NM_001098495,NM_001098493,NM_001098496,AC003005,CH471135,AB209371,AK026886,AK302135,AK304569,AK307802,AK309427,BC008297,BC024259,BP336834,CR601614,DB004191,DC315347,DC392630,DC407547,DC425209 BAH14527,BAH14668,NP_001091961,NP_001091964,NP_078967,NP_001091962,NP_001091965,NP_001091963,NP_001091966,EAW72504,EAW72505,EAW72506,BAD92608,BAB15582,BAG63509,BAG65360,AAH08297,AAH24259,Q59FT8,Q96HQ0 Hs.467358 FLJ23233|ZNF419A zinc finger protein 419|zinc finger protein 419A protein-coding 1349955 ZNF420 zinc finger protein 420 20713054,19377469,15489334,14702039,12477932,19629643 147923 NM_144689,AC010632,AC012309,AK056695,AK056753,AK315728,BC026210 NP_653290,BAB71272,BAG38083,AAH26210,Q8TAQ5,Q96ML5 Hs.444992 APAK|FLJ32191 ATM and p53-associated KZNF protein|zinc finger protein 420 protein-coding 1344492 ZNF423 zinc finger protein 423 The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. [provided by RefSeq] 10660046,19345331,18519826,14702039,14623329,12477932,12136093,9872452,9151733,7829101,20359360,15203218,16713569,18821565,20017333,20379614 23090 NM_015069,AC007339,AC007607,AC007861,AC027348,CH471092,AB018303,AF221712,AK027479,AK304829,AK309835,AK314742,AW022965,BC112315,BC112317,CD626621 NP_055884,EAW82735,BAA34480,AAF28354,BAG51329,BAH14263,AAI12316,AAI12318,Q2M1K9,ADR83438 Hs.530930 Ebfaz|KIAA0760|MGC138520|MGC138522|OAZ|Roaz|ZFP423|Zfp104 OLF-1/EBF associated zinc finger|Smad- and Olf-interacting zinc finger protein|early B-cell factor associated zinc finger protein|hOAZ|olf1/EBF-associated zinc finger protein|zinc finger protein 423 protein-coding 1349491 ZNF424 zinc finger protein 424 347683 1606140 ZNF425 zinc finger protein 425 14702039,12690205,12477932 155054 NM_001001661,AACC02000041,AC073422,CH471146,AK056498,AY621067,BC125189,CO249227 NP_001001661,EAL24427,EAW80061,BAG51733,AAT40438,AAI25190,Q08AG3,Q6IV72 Hs.31743 MGC150568 OTTHUMP00000213767|zinc finger protein 425 protein-coding 1318534 ZNF426 zinc finger protein 426 1580863 16189514,15489334,14702039,12477932,11711586,17409159,18216089,19592062 79088 NM_024106,AC008567,CH471106,AB209837,AK095759,BC001791 NP_077011,EAW84038,EAW84039,EAW84040,BAD93074,BAG53124,AAH01791,Q59EH4,Q9BUY5,ABM83450,ABM86662 Hs.594011 MGC2663 zinc finger protein 426 protein-coding 1343141 ZNF427 zinc finger protein 427 347692 1603271 ZNF428 zinc finger protein 428 15146197,12477932 126299 NM_182498,AC005525,AC006276,CH471126,AA215292,AI569354,AY257197,BC015950,BC045799,BE901751,BG121932,CN355560 NP_872304,EAW57209,EAW57210,AAP87382,AAH15950,AAH45799,Q96B54,ACE87310 Hs.99093 C19orf37|MGC51082|Zfp428 enzyme-like protein PIT13|zinc finger protein 428 protein-coding 1349572 ZNF429 zinc finger protein 429 14702039,7865130,19207018 353088 NM_001001415,AC010615,CH471106,AF325191,AK057495,AK308708,AY269786 NP_001001415,EAW84901,AAK01422,AAP30884,Q86V71,AAI56456,AAI72531 Hs.572567,Hs.709598 zinc finger protein 429 protein-coding 1349254 ZNF43 zinc finger protein 43 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq] 1580863 1711675,11256614,17178891,16381901,15489336,15489334,14702039,12477932,11076863,8467795,2288909,2023909,2014798 7594 NM_003423,AC010617,AC092364,CH471106,AK022905,AK291353,BC006528,BT009756,BU786847,CR933640,M61869,X52358,X59244 NP_003414,EAW84908,EAW84909,BAF84042,AAH06528,AAP88758,CAI45941,AAA58674,CAA36584,CAA41932,P17038,CAL37453,CAL37522 Hs.534365 DKFZp686L1854|HTF6|KOX27|ZNF39L1 zinc finger protein 39|zinc finger protein 39-like 1 (KOX 27)|zinc finger protein 43|zinc finger protein 43 (htf6)|zinc finger protein HTF6|zinc finger protein KOX27|zinc protein HTF6 protein-coding 1353435 ZNF430 zinc finger protein 430 1580863 14702039,12477932,16344560 80264 NM_025189,AC008739,AC012627,CH471106,AK023721,AK290475,AL832422,AY269787,BC111776,DB255551,NM_001172671 NP_079465,EAW84884,BAB14656,BAF83164,CAH10650,AAP30885,AAI11777,Q2NKJ9,Q69YQ2,Q9H8G1,NP_001166142 Hs.466289 DKFZp762K012|FLJ13659|MGC133232 zinc finger protein 430 protein-coding 1605269 ZNF431 zinc finger protein 431 15489334,12477932,11853319 170959 NM_133473,AC010620,CH471106,AB075849,AK293072,AK308127,BC040506,BX647597 NP_597730,EAW84888,EAW84889,EAW84890,BAB85555,BAF85761,AAH40506,Q8TF32 Hs.725384 DKFZp313E0830|KIAA1969 zinc finger protein 431 protein-coding 1350152 ZNF432 zinc finger protein 432 1580863 16777052,15489334,12477932,9872452 9668 NM_014650,AC011468,CH471135,AB018341,AK292827,BC002858 NP_055465,EAW72060,EAW72062,BAA34518,BAF85516,AAH02858,O94892,ABZ92278 Hs.655934 zinc finger protein 432 protein-coding 1345946 ZNF433 zinc finger protein 433 1580863 20598377,14702039,12477932 163059 NM_001080411,AC008770,AC022415,CH471106,AK098300,BC047412 NP_001073880,EAW84253,EAW84254,EAW84255,EAW84256,BAC05279,AAH47412,Q8N7K0,ABZ92118 Hs.667776 FLJ40981 OTTHUMP00000209866|OTTHUMP00000209867|zinc finger protein 433 protein-coding 1343279 ZNF434 zinc finger protein 434 1580863 16189514,14702039,12477932 54925 NM_017810,AC025283,CH471112,AK000424,AK056463,AK291213,AK299070,AK301586,AY261676,AY279347,AY279348,BC002859,BC017015,CR620466 NP_060280,EAW85369,EAW85370,EAW85371,EAW85372,BAA91155,BAF83902,BAG63077,AAP57398,AAQ62844,AAQ62845,AAH02859,Q6WMU8,Q9BU74,Q9NX65,BAG61136 Hs.592078 FLJ20417|FLJ31901|MGC4179 HCCS-5|human cervical cancer suppressor gene 5 protein|zinc finger protein 434 protein-coding 1321577 ZNF436 zinc finger protein 436 1580863 17089209,16710414,15489334,14702039,12477932,11214970,1946370,1505991 80818 AL109936,NM_001077195,NM_030634,CH471134,M88359,AB051497,AK092364,AK308173,AL834485,BC056400,CR611983 NP_001070663,NP_085137,CAI19028,CAI19029,EAW95043,EAW95044,EAW95045,AAA61317,BAB21801,BAC03871,CAD39143,AAH56400,Q15921,Q5TEG9,Q8NAP0,Q9C0F3,ABZ92065 Hs.293798 KIAA1710|ZNF|Zfp46 DNA-binding protein|OTTHUMP00000003265|zinc finger protein 436 protein-coding 1603538 ZNF438 zinc finger protein 438 16385451,20379614,17669267,16344560,15489334,15164054,14702039,12477932 220929 NM_001143767,NM_001143771,NM_001143768,NM_182755,NM_001143770,NM_001143766,NM_001143769,AL359532,AL359546,AL591707,AL596113,CH471072,AF428258,NR_026560,AF440405,AI703004,AK057323,AK131357,AK292730,AK294253,AL833056,BC101622,BC104669,BC104757,BC143462,BC143464,DA402463,DA479799,DA513699,DQ356011,DQ356012 NP_001137239,NP_001137243,NP_001137240,NP_877432,NP_001137242,NP_001137238,NP_001137241,CAI13437,CAI13438,CAM17193,EAW85996,EAW85997,AAP97298,AAP97319,BAG51902,BAD18510,BAF85419,BAG57549,CAH56317,AAI01623,AAI04758,ABC86954,ABC86955,Q5T427,Q7Z4T7,Q7Z4V0 Hs.660642 FLJ32761|MGC126671|RP11-330O11.1|bA330O11.1 OTTHUMP00000019401|OTTHUMP00000019402|OTTHUMP00000179084|ZNF438|zinc finger protein 438 protein-coding 1344221 ZNF439 zinc finger protein 439 1580863 15489334,16189514,14702039,12477932 90594 NM_152262,AC020951,CH471106,AK027542,AL833935,BC032857 NP_689475,EAW84245,EAW84246,EAW84247,BAB55187,CAD38790,AAH32857,Q8NDP4 Hs.528731 DKFZp571K0837 OTTHUMP00000210064|zinc finger protein 439 protein-coding 1344370 ZNF44 zinc finger protein 44 1580863 14667819,18029348,17081983,16344560,15146197,12477932,10737800,2288909,1946370,1505991 51710 BE766488,NM_001164276,NM_016264,AC012618,CH471106,M77173,M88365,M88367,AA525756,AB021642,AF024706,AK297528,AL137602,AW795413,BC001868,BC032246,BC136502,BX640705,CN364680,CR604609,DA815414,X16281,X52338 NP_001157748,NP_057348,EAW84266,EAW84267,AAA36816,AAA61323,AAA61325,BAA86988,AAB81096,BAG59931,AAI36503,CAE45825,CAA34357,CAA36564,O14858,P15621,Q15927,Q15930,Q6LDH8,Q6N045 Hs.720085,Hs.296731,Hs.693933 DKFZp434F1811|DKFZp686L21136|GIOT-2|KOX7|ZNF|ZNF504|ZNF55|ZNF58 OTTHUMP00000209860|gonadotropin inducible transcription repressor-2|gonadotropin-inducible ovary transcription repressor 2|gonadotropin-inducible transcription repressor 2|zinc finger protein 44 (kox 7)|zinc finger protein 55|zinc finger protein 58|zinc finger protein KOX7|zinc finger protein ZnFP12 protein-coding 1347624 ZNF440 zinc finger protein 440 1580863 15489334,14702039,12477932,16189514,16169070,20379614,20936779 126070 NM_152357,AC008543,CH471106,AK092559,AK095252,BC016371,BC035760 NP_689570,EAW84243,EAW84244,BAC04510,AAH16371,AAH35760,Q05DD3,Q8IYI8,ABZ92094 Hs.418192 FLJ37933 OTTHUMP00000210059|OTTHUMP00000210060|zinc finger protein 440 protein-coding 1350882 ZNF441 zinc finger protein 441 1580863 16344560,14702039,12477932,20379614 126068 NM_152355,AC008543,CH471106,AK095956,BC144217,BX649086,DB250168,AK092721 NP_689568,EAW84240,BAC04661,Q8N8Z8 Hs.675132 FLJ38637 zinc finger protein 441 protein-coding 1353255 ZNF442 zinc finger protein 442 1580863 16344560,14702039 79973 NM_030824,AC008758,CH471106,AK024418,DA151257,AK295923 Q9H7R0,NP_110451,EAW84270,BAB14916,BAG58710 Hs.253193 FLJ14356 zinc finger protein 442 protein-coding 1345334 ZNF443 zinc finger protein 443 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM] 1580863 9731181,16344560,15489334,14702039,12477932,12215374 10224 NM_005815,AC008758,CH471106,AB011414,AK023025,BC032753,DA778355,AK299532 NP_005806,EAW84273,BAA75543,BAG51151,AAH32753,Q9Y2A4,ABZ92288,BAG61480 Hs.720755 ZK1 Kruppel-type zinc finger (C2H2)|OTTHUMP00000209833|krueppel-type zinc finger protein ZK1|zinc finger protein 443 protein-coding 1312520 ZNF444 zinc finger protein 444 ZNF444 has a domain structure and amino acid sequence similar to several zinc finger transcription factors, such as Kruppel-like ZNF191 (MIM 194534).[supplied by OMIM] 14702039,12477932,11978792,9373149,8125298,15489334,19760602 55311 NM_018337,AC024580,CH471135,AB052954,AB052955,AF074985,AK001999,AK074063,AK097319,AK223408,AL834130,BC021282,BI823582,CR590232,CR597748,CR622776,CR626120,CR626723 BAC02698,NP_060807,EAW72424,EAW72425,EAW72426,EAW72427,EAW72428,EAW72429,EAW72430,BAC02697,BAA92028,BAB84889,BAD97128,CAD38847,AAH21282,Q53F81,Q8N0Y2 Hs.24545 EZF-2|EZF2|FLJ11137|ZSCAN17 endothelial zinc finger protein 2|zinc finger and SCAN domain-containing protein 17|zinc finger protein 444 protein-coding 1349162 ZNF445 zinc finger protein 445 1580863 16368201,15489334,12477932,7814019,20379614 353274 NM_181489,AC099669,AC134943,CH471055,AK026891,AL832553,AY262260,AY279350,AY295873,BC052953,BC101486,BX108541,L32162,AK310588,BC143439 NP_852466,EAW64708,AAP36990,AAQ62847,AAP50258,AAI01487,AAA36767,P59923,Q15636,AAI43440 Hs.250481 MGC126535|ZKSCAN15|ZNF168 OTTHUMP00000164036|zinc finger protein 168|zinc finger protein 445|zinc finger protein with KRAB and SCAN domains 15 protein-coding 1351503 ZNF446 zinc finger protein 446 16189514,15936718,14702039,12477932 55663 BC017206,NM_017908,AC012313,CH471135,AK000633,AK026153,AK055359,AL122108,AL833955,AY279351,AY280800 AAH17206,Q8NDK2,Q96AF5,Q9H686,Q9NWS9,Q9UFF2,NP_060378,EAW72597,EAW72598,EAW72599,EAW72600,BAA91298,BAB15377,CAB59270,CAD38805,AAQ62848,AAQ16304 Hs.710284 FLJ20626|ZKSCAN20|ZSCAN30 zinc finger protein 446|zinc finger protein with KRAB and SCAN domains 20 protein-coding 1346324 ZNF448 zinc finger protein 448 353277 1348166 ZNF449 zinc finger protein 449 16636917,16344560,15790807,15772651,15489334,14702039,12477932 203523 NM_152695,AL450472,CH471107,AK002078,AK074194,AK314344,AL832169,AL833109,AL833407,AY280801,AY927530,AY927531,BC060768,BC065938,BX537604,DA319333,NG_021220 NP_689908,CAI39872,CAI39873,EAX11728,BAB85013,BAG36986,CAD38639,AAQ16305,AAH60768,AAH65938,CAD97794,Q6P9G9,Q7Z3P1,ABZ92212,ACE87354,ACE86670 Hs.28780 FLJ23614|ZSCAN19 zinc finger and SCAN domain-containing protein 19|zinc finger protein 449 protein-coding 1354120 ZNF45 zinc finger protein 45 1580863 9570955,1559709,15489334,15057824,12477932,2288909,9067431,19195718 7596 NM_003425,AC006213,AC035150,CH471126,AK127739,BC037575,L75847,M67509,X52336 NP_003416,AAF63030,EAW57235,EAW57236,BAC87108,AAH37575,AAB05653,AAA36133,AAA36134,CAA36562,Q02386,Q6ZS47,ABZ92440 Hs.381285 KOX5|ZNF13 BRC1744|zinc finger protein 13|zinc finger protein 45|zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)|zinc finger protein KOX5 protein-coding 1314152 ZNF451 zinc finger protein 451 1580863 20936779,18656483,16189514,15489334,15231748,15146197,14702039,14574404,12477932,11214970,9628581,9373149,8125298,7566098 26036 NM_015555,AL136311,AL450489,CH471081,AA336048,AB011148,AB051489,AK000983,AK027074,AK027805,AK075174,AK225806,AK302577,AY055204,BC021712,BC042450,BC058853,BC098382,BM559241,BX648081,CN314846,CR623945,NM_001031623 NP_001026794,NP_056370,CAI20516,CAH71220,CAH71221,CAH71222,CAH71223,EAX04471,EAX04472,BAA25502,BAB21793,BAB55382,BAG63834,AAL17975,AAH21712,AAH42450,AAH58853,AAH98382,Q4KMR5,Q96JY2,Q9Y4E5,ACE87624,ACE86936 Hs.705485,Hs.485628 COASTER|FLJ23421|FLJ53246|FLJ90693|KIAA0576|KIAA1702|MGC26701|dJ417I1.1 OTTHUMP00000218171|coactivator for steroid receptors|zinc finger protein 451 protein-coding 1346228 ZNF454 zinc finger protein 454 1580863 15489334,14702039,12477932,16344560 285676 NM_182594,AC104117,CH471165,AK094763,AK292317,BC105061,BC112276,DA331325,DB167127,NM_001178089,NM_001178090 NP_872400,EAW53822,EAW53823,EAW53824,BAC04418,BAF85006,AAI05062,AAI12277,Q2M1P2,Q8N9F8,ABZ92160,NP_001171560,NP_001171561 Hs.259441 FLJ37444|MGC138481 zinc finger protein 454 protein-coding 1606316 ZNF460 zinc finger protein 460 Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 16344560,15489334,15004467,14702039,12477932,7865130 10794 NM_006635,AC005261,AK074582,AK090816,AK292144,AK298106,AY329492,BC109018,BC109019,BC118625,DA991801,X78931 NP_006626,BAF84833,BAG60391,AAR00225,AAI09019,AAI09020,AAI18626,CAA55531,Q14592 Hs.99971 HZF8|ZNF272 zinc finger protein 272|zinc finger protein 460|zinc finger protein HZF8 protein-coding 1601731 ZNF461 zinc finger protein 461 14764631,16595694,15489334,15004467,12477932,11579202 92283 NM_153257,AC074138,AB021641,AB209279,AK292834,AK299370,AY329493,BC028631,BX649031 NP_694989,BAA86987,BAD92516,BAF85523,BAG61360,AAR00226,AAH28631,Q59G30,Q8TAF7,ABM82111,ABM85293 Hs.590972 GIOT-1|GIOT1|MGC33911 gonadotropin inducible transcription repressor 1|gonadotropin-inducible ovary transcription repressor 1|zinc finger protein 461 protein-coding 1352850 ZNF462 zinc finger protein 462 1580863 19266077,18978678,18391951,15489334,14702039,12477932,12168954,11347906,19913121,20546612,20628086,19448620,20080650 58499 NM_021224,AL512593,AL590362,CH471105,AB058706,AK027866,AK127803,AK302007,AL359561,BC036884,BX648965,CR749850 NP_067047,CAI14941,CAI14942,CAI14943,EAW59010,EAW59011,EAW59012,BAB47432,BAC87142,BAG63410,CAB94868,AAH36884,CAH56168,CAH18698,Q5T0T2,Q5T0T3,Q63HJ5,Q68CP0,Q6ZS14,Q96JM2,Q9NPX5,AAI72445 Hs.370379 DKFZp686B2325|DKFZp762N2316|FLJ14960|FLJ45904|KIAA1803|RP11-508N12.1|Zfp462 OTTHUMP00000021855|OTTHUMP00000215909|zinc finger protein 462 protein-coding 1354246 ZNF463P zinc finger protein 463 pseudogene 387123 1350118 ZNF467 zinc finger protein 467 1580863 17848547,15489334,12477932,12426389 168544 NM_207336,AC004877,CH471146,BC029296,BC038972,BC052625 NP_997219,EAW80032,EAW80033,EAW80034,AAH52625,Q7Z7K2 Hs.726477 EZI|Zfp467 OTTHUMP00000212542|zinc finger protein 467|zinc finger protein EZI protein-coding 1605315 ZNF468 zinc finger protein 468 16144304,14702039,12477932 90333 NM_001008801,NM_199132,AC008813,CH471135,AK023558,AK025501,AK289841,AK292449,AY442330,AY442331,BC008480,BC037409,BC063143,CR749381,CR936599,CR936695 NP_001008801,NP_954583,EAW72099,EAW72100,BAF82530,BAF85138,AAS01603,AAS01604,AAH63143,CAH18233,CAI56747,Q5VIY5,Q6P514,AAI48555 Hs.467223 DKFZp781B1474|DKFZp781N07108 zinc finger protein 468|zinc finger protein ZNF468 protein-coding 1316175 ZNF469 zinc finger protein 469 This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq] 1580863 20938016,18452888,17081983,11347906,19661234,20485516,20719862 84627 NM_001127464,NG_012236,AC135049,AB058761 NP_001120936,BAB47487,Q96JG9 Hs.54925 BCS|KIAA1858 zinc finger protein 469 protein-coding 1603830 ZNF470 zinc finger protein 470 18029348,16344560,15302581,15057824,14702039,12477932 388566 NM_001001668,AC007228,CH471135,AA977233,AK129686,AK130356,AY484591,BC136762,BC142627,BC150188,BX641145,DA412738 NP_001001668,AAD23607,EAW72466,BAC85218,AAS64219,AAI36763,Q6ECI4 Hs.204449 CZF-1|FLJ26175|FLJ26846 chondrogenesis zinc finger protein 1|zinc finger protein 470 protein-coding 1350704 ZNF471 zinc finger protein 471 737633,1580863 11256614,16381901,16189514,15489336,15489334,15057824,12477932,11230166,11076863,10718198 737633 57573 AC004696,AC005498,CH471135,AB037817,AF352026,AK291416,AK293908,AL831845,BC016830,BC028227,BC125221,BC125222,NM_020813 NP_065864,AAC32422,EAW72459,EAW72460,EAW72461,BAA92634,AAK30252,BAF84105,BAG57293,CAD38551,AAI25222,AAI25223,Q9BX82,CAL38280 Hs.710590 ERP1|KIAA1396|MGC150657|MGC150658|Z1971 EZFIT-related protein 1|zinc finger protein 471 protein-coding 1343636 ZNF472 zinc finger protein 472 1299608 1299608 386619 1352232 ZNF473 zinc finger protein 473 16914750,16189514,15489334,14702039,12975319,12477932,11782445,10574461,16714279,20379614 25888 NM_015428,NM_001006656,AC010624,AC011452,CH471177,AB032967,AF454744,AK054671,AK292452,AK302293,AL080143,BC018612,BX492803,BX648093,CR596386,CR625943 NP_056243,NP_001006657,EAW52593,EAW52594,BAA86455,AAL51029,BAF85141,BAG63633,CAB45736,AAH18612,CAH56173,Q63HN4,Q8WTR7,ABZ92317 Hs.440553 HZFP100|ZN473 zfp-100|zinc finger protein 100 homolog|zinc finger protein 473|zinc finger protein ZFP100 protein-coding 1606968 ZNF474 zinc finger protein 474 15489334,14702039,12477932 133923 NM_207317,AC010255,CH471086,AK057483,AK290985,AY461732,BC133022,BC133026 NP_997200,EAW48892,EAW48893,EAW48894,EAW48895,EAW48896,BAB71507,BAF83674,AAS21253,AAI33023,AAI33027,Q6S9Z5 Hs.646680 FLJ32921 4933409D10Rik|OTTHUMP00000222997|OTTHUMP00000222998|TSZFP|testis-specific zinc finger protein|zinc finger protein 474 protein-coding 1353288 ZNF479 zinc finger protein 479 1580863 11410164 90827 NM_033273,AC099654,AC122133,AC125231,CH471214,AF277624 NP_150376,EAW71754,AAK61307,Q96JC4,AAI67802 Hs.616660 KR19 HKr19|KRAB zinc finger protein KR19|zinc finger protein 479|zinc finger protein Kr19 protein-coding 1350030 ZNF48 zinc finger protein 48 1946370,1505991 7599 M88358 AAA61316 protein-coding 1348732 ZNF480 zinc finger protein 480 737633,1580863 15489334,15219843,14702039,12477932,20379614 737633 147657 AK303271,AL832560,AY512662,BC007056,BC018783,BC054018,BC065503,NM_144684,AC010320,CH471135,AK096442,AK096559 BAH13927,CAI46140,AAR97581,AAH07056,AAH18783,AAH54018,AAH65503,Q05DL7,Q7Z2X8,Q8WV37,ABM82675,ABW03458,NP_653285,EAW72071,BAC04792,BAC04817 Hs.147025 MGC32104 zinc finger protein 480 protein-coding 1604223 ZNF483 zinc finger protein 483 14702039,12477932,11853319,20379614,21102462 158399 NM_001007169,NM_133464,AL135787,AL159168,CH471105,AB075842,AK092811,AK291267,BC020893,BC065738,BC136695,BC136696,BC152427,BC152433 NP_001007170,NP_597721,CAI12406,CAH73466,CAH73467,CAH73468,EAW59073,BAB85548,BAC03981,BAF83956,AAH65738,AAI36696,AAI36697,AAI52428,AAI52434,Q6P088,Q8NAE1,Q8TF39 Hs.660784 ZKSCAN16 zinc finger protein 483|zinc finger protein HIT-10|zinc finger protein with KRAB and SCAN domains 16 protein-coding 1350077 ZNF484 zinc finger protein 484 15489334,15231748,15164053,14702039,12477932 83744 NM_031486,NM_001007101,AL136981,CH471089,AK000772,AK091203,AK292997,AK299274,AK309617,AL833202,BC112394,BC112396 NP_113674,NP_001007102,CAI41017,CAI41018,EAW62836,EAW62837,BAG52305,BAF85686,BAG61294,AAI12395,AAI12397,Q5JVG2 Hs.668378 BA526D8.4|MGC133033|MGC133034 KRAB box containing C2H2 type zinc finger bA526D8.4|zinc finger protein 484 protein-coding 1349192 ZNF485 zinc finger protein 485 1580863 16385451,15489334,15164054,14702039,12477932 220992 NM_145312,AL645634,CH471160,CQ783574,AK074679,AK299707,AK313328,BC014161,BX648149 NP_660355,CAH73487,EAW86605,EAW86606,CAF86742,BAC11133,BAG61608,BAG36133,AAH14161,Q8NCK3 Hs.147440 OTTHUMP00000211177|Zinc finger protein 93 (Zinc finger protein HTF34)|zinc finger protein 485 protein-coding 1346130 ZNF486 zinc finger protein 486 1580863 15489334,12477932 90649 BC117268,NM_052852,AC011447,CH471106,AB209550,BC008936,BC027608 Q96H40,AAI17269,Q0VG00,Q4G180,Q59FB0,NP_443084,EAW84874,BAD92787,AAH08936,AAH27608 Hs.590991 KRBO2|MGC2396 KRAB box only protein 2|KRAB domain only 2|KRAB domain only protein 2|zinc finger protein 486 protein-coding 1605144 ZNF487 zinc finger protein 487 642819 NR_026693,AL450326,AK302442 BAH13711,B1APH4,CAI15018,CAO03512,CAQ52413,CAQ52414,CAQ52415 Hs.719657 KRBO1|ZNF487 pseudo 1320391 ZNF488 zinc finger protein 488 1580863 16713569,15489334,15164054,14702039,12477932,17207965,16385451 118738 AL731561,CH471251,AK055018,AK056666,AK091097,BC026895,BC051323,NM_153034 NP_694579,CAH74044,EAW50658,BAB71246,AAH26895,AAH51323,Q05CE0,Q96MN9,ADQ32096 Hs.27788 FLJ32104 OTTHUMP00000195590|OTTHUMP00000195591|OTTHUMP00000195592|OTTHUMP00000195593|OTTHUMP00000195594|OTTHUMP00000195595|zinc finger protein 488 protein-coding 1352943 ZNF49 zinc finger protein 49 1505991 7600 1346780 ZNF490 zinc finger protein 490 1580863 12477932,10574462,15489334 57474 NM_020714,AC010422,CH471106,AB033024,BC038586 NP_065765,EAW84277,BAA86512,AAH38586,Q9ULM2,ABZ92362 Hs.655860 KIAA1198 zinc finger protein 490 protein-coding 1349638 ZNF491 zinc finger protein 491 1580863 16344560,15489334,14702039,12477932,8889549 126069 NM_152356,AC008543,CH471106,AA083980,AK092110,AK096593,AK297479,BC101590,BC101592,DA776617 NP_689569,EAW84242,BAC03809,BAC04824,BAG59900,AAI01591,AAI01593,Q8N8L2 Hs.631634 FLJ34791|MGC126639|MGC126641 OTTHUMP00000210069|zinc finger protein 491 protein-coding 1352998 ZNF492 zinc finger protein 492 1580863 17567985,16714237,12477932,10819331 57615 BP871882,NM_020855,AC011467,AC024563,AB040906,BC110575 NP_065906,BAA95997,Q9P255,AAI60049 Hs.232108 KIAA1473|MGC129633|MGC148019|ZNF115 zinc finger protein 115 (Y20)|zinc finger protein 492 protein-coding 1344388 ZNF493 zinc finger protein 493 16344560,14702039,12477932 284443 NM_001076678,NM_175910,NM_145326,AC010615,CH471106,AB209086,AK092178,AK093823,AK095616,AK127476,AK128494,BC006408,BC022394,BC112346,BX648842,DA804007 NP_001070146,NP_787106,NP_663299,EAW84898,EAW84899,BAD92323,BAC04591,BAC86997,BAC87465,AAH06408,AAI12347,Q2M1I7,Q6ZR52,Q9BR99,AAI67858,ABZ92091 Hs.656558 FLJ36504 zinc finger protein 493 protein-coding 1312150 ZNF496 zinc finger protein 496 737633,1580863 16189514,15489334,15169884,14702039,12477932,20176155 737633 84838 NM_032752,AC104335,CH471148,AK097397,AK098030,AK310669,BC007263,BC025794,CR610381 NP_116141,EAW77178,EAW77179,EAW77180,EAW77181,EAW77182,AAH07263,AAH25794,Q96IT1,ABM84432,ABM87490 Hs.654803 MGC15548|NIZP1|ZKSCAN17 NSD1 (nuclear receptor binding SET-domain containing 1)-interacting zinc finger protein 1|zinc finger protein 496|zinc finger protein with KRAB and SCAN domains 17 protein-coding 1343501 ZNF497 zinc finger protein 497 15489334,14702039,12477932 162968 NM_198458,AC012313,AF064790,CH471135,AF085829,AK126727,AK131209,BC118983,BC125273 NP_940860,AAF16412,EAW72577,EAW72578,BAC86660,BAD18400,AAI18984,AAI25274,Q6ZNH5 Hs.447840 FLJ44773 zinc finger protein 497|zinc finger-like protein protein-coding 1318498 ZNF498 zinc finger protein 498 This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq] 19260139,16314882,14702039,12690205,12477932,11179890 221785 NM_145115,NG_000004,AC005020,CH236956,CH471091,AK057030,AK160369,AW195325,BC069644,BC074902,BC074903,BC089402,BC114573,BC114941,BX640720,BX648158,CR592935 NP_660090,EAL23869,EAW76643,EAW76644,EAW76645,EAW76646,EAW76647,BAG51846,BAD18712,AAH69644,AAH74902,AAH74903,AAH89402,AAI14574,AAI14942,CAE45839,Q6NSZ9 Hs.446297 ZSCAN25 OTTHUMP00000082680|zinc finger and SCAN domain containing 25|zinc finger and SCAN domain-containing protein 25|zinc finger protein 498 protein-coding 1314930 ZNF500 zinc finger protein 500 1580863 15489334,15146197,12477932,9628581,9110174,8889549,8619474 26048 NM_021646,AC020663,CH471112,AA236649,AB011129,AF007129,AK291792,AK297993,BC004125,BC014054,BC033151,BC121013,BC121014,CN314802 NP_067678,EAW85266,BAA25483,BAF84481,BAG60301,AAH04125,AAI21014,AAI21015,O60304,Q0VAL1 Hs.513316 ZKSCAN18 zinc finger protein 500|zinc finger protein with KRAB and SCAN domains 18 protein-coding 1353469 ZNF501 zinc finger protein 501 737633,1580863 15489334,14702039,12477932,1946370,1505991 737633 115560 M88361,AK054613,AK316574,BC013762,CR596464,NM_145044,AC098649,CH471055,AK297216 AAA61319,BAB70773,BAG38163,AAH13762,Q15923,Q96CX3,NP_659481,EAW64720,EAW64721,BAG59699 Hs.401045 MGC21738|ZNF|ZNF52 zinc finger protein 501|zinc finger protein 52 protein-coding 1343425 ZNF502 zinc finger protein 502 1580863 16344560,15489334,14702039,12477932 91392 NM_001134440,NM_001134441,NM_001134442,AC098649,AC124045,CH471055,AK022577,AK027761,BC028377,DA823790,DA935088,DB264545,NM_033210 NP_149987,NP_001127912,NP_001127913,NP_001127914,EAW64718,EAW64719,BAB55352,AAH28377,Q8TBZ5,Q96K08,ABZ92081 Hs.224843 FLJ12515|FLJ14855 OTTHUMP00000209712|zinc finger protein 502 protein-coding 1323782 ZNF503 zinc finger protein 503 737633,1580863 14983057,14702039,12477932,9373149,8125298,11827452 737633 84858 NM_032772,AC010997,CH471083,AK092897,AK127647,AK225851,AK290311,BC007494,BC011625,BC013011,BC021165,AI701640,AW069047 NP_116161,EAW54579,EAW54580,EAW54581,BAC03999,BAG54540,BAF83000,AAH07494,AAH11625,AAH13011,AAH21165,Q96F45,ABZ92074 Hs.725285 FLJ45745|MGC2555|NOLZ-1 zinc finger protein 503 protein-coding 1344770 ZNF506 zinc finger protein 506 11256614,16344560,14702039,12477932 440515 NM_001145404,NM_001099269,AC011477,CH471106,AB209500,AI559570,AK095575,AK122848,AL136548,BC018100,BC034920,CA441296,CR615667,DA122515 NP_001138876,NP_001092739,EAW84861,BAD92737,BAG53088,CAB66483,AAH18100,Q4G1C2,Q59FG0,Q5JVG8 Hs.351906 DKFZp761G1812|MGC27136 zinc finger protein 506 protein-coding 1315962 ZNF507 zinc finger protein 507 1580863 16344560,15302935,12477932,10470851,8889548 22847 NM_014910,NM_001136156,AC007773,AB029007,AK126703,AK130905,AK292526,AL713775,BC110332,BC136417,BU681879,BX640881,CK820221,CR617264,DB165165 NP_055725,NP_001129628,BAA83036,BAF85215,CAD28536,AAI10333,AAI36418,CAE45937,Q8TCN5 Hs.205392 zinc finger protein 507 protein-coding 1315520 ZNF509 zinc finger protein 509 737633 12477932,15489334,14702039 737633 166793 NM_145291,AC011744,AC105415,AK095878,AK127560,AK292551,AL832751,BC016477,BC089401,BC109087,BC109088,CA435417,AB209466 NP_660334,BAC87035,BAF85240,AAH16477,AAH89401,AAI09088,AAI09089,Q32MK9,Q32ML0,Q6ZSB9,BAD92703 Hs.419997 FLJ38559|MGC126279|MGC126280|ZNF509 zinc finger and BTB domain-containing protein 49|zinc finger protein 509 protein-coding 1345526 ZNF510 zinc finger protein 510 737633,1580863 19030899,15489334,15231748,12477932,10231032 737633 22869 NM_014930,AL589843,CH471174,AB023189,AK292600,BC036676,BC058022,BC068587,CR603078 NP_055745,CAI15266,CAI15267,EAW92666,BAA76816,BAF85289,AAH36676,AAH58022,AAH68587,Q5SZP5,Q6NUI8,Q9Y2H8,ABZ92307 Hs.75264 KIAA0972|MGC33740 OTTHUMP00000021734|OTTHUMP00000021735|zinc finger protein 510 protein-coding 1318442 ZNF511 zinc finger protein 511 737633,1580863 15489334,15164054,14702039,12477932 737633 118472 NM_145806,AL360181,CH471211,AK091711,AK292380,BC015139,BC019897,CR590792,CR604803,CR607321,CR611284,CR617311,CR620153 NP_665805,CAH70277,CAH70278,EAW61330,EAW61331,EAW61332,EAW61333,BAC03729,BAF85069,AAH15139,AAH19897,Q8NB15 Hs.422113 MGC30006 zinc finger protein 511 protein-coding 1349628 ZNF512 zinc finger protein 512 737633,1580863 14702039,12477932,11347906,20602751 737633 84450 AC074091,CH471053,AB058708,AK057028,AK074460,AK293771,AK294055,AK299818,AK316011,AK316299,AL514772,AL833748,BC015707,BC043221,BC093041,BG720805,BX647996,NM_032434 NP_115810,AAX93199,EAX00562,EAX00563,EAX00564,EAX00565,BAB47434,BAB71348,BAG57187,BAH11661,BAG61687,BAH14382,BAH14670,CAH56258,AAH43221,AAH93041,Q658M0,Q86XK6,Q96ME7 Hs.529178 FLJ51176|KIAA1805|MGC111046 OTTHUMP00000123424|zinc finger protein 512 protein-coding 1606523 ZNF512B zinc finger protein 512B 17081983,15489334,12477932,11780052,10574462,20211142,20639536 57473 NM_020713,AL118506,CH471077,AB033022,AL834525,BC125128,BC125129 NP_065764,CAC15498,EAW75183,BAA86510,CAD39181,AAI25130,Q96KM6,AAI25129 Hs.551552 GM632|KIAA1196|MGC149845|MGC149846 OTTHUMP00000031611|zinc finger protein 512B protein-coding 1321365 ZNF513 zinc finger protein 513 737633 15221005,14702039,12477932,8889548,20797688,19913121,20628086 737633 130557 AB075875,NM_144631,AC074117,CH471053,AK056765,AK096933,AK290690,AL833946,BC040650,BC052282,CA312898,CR620947 EAX00583,BAD38657,NP_653232,AAY14845,BAB71274,BAC04903,BAF83379,CAD38801,AAH40650,AAH52282,Q8N8E2,ABZ92098 Hs.515872 FLJ32203|HMFT0656|RP58 OTTHUMP00000200791|zinc finger protein 513 protein-coding 1347182 ZNF514 zinc finger protein 514 1580863 15815621,15489334,14702039,12477932 84874 NM_032788,AC092835,CH471219,AK027363,AL832263,AL833754,BC068498,BC074900,BC074901,BC110524,BC110525 NP_116177,AAX88981,EAX10714,BAB55064,CAI46170,CAH56226,AAH74900,AAH74901,AAI10525,AAI10526,Q658L7,Q96K75 Hs.655109 MGC126229|MGC126230 zinc finger protein 514 protein-coding 1343458 ZNF516 zinc finger protein 516 1580863 15302935,12477932,9039502,18029348 9658 NM_014643,AC009716,CH471117,BC108287,BC113085,BC113086,BC128041,D16475,D86975,AC018413 NP_055458,EAW66578,AAI08288,BAA13211,Q2YDX2,Q92618 Hs.436973 HsT287 zinc finger protein 516 protein-coding 1346699 ZNF517 zinc finger protein 517 16344560,14702039,12477932 340385 NM_213605,AF235103,CH471162,AK096527,AK097278,AK131440,BC126161,BC143922,DB016003,DB325820 NP_998770,EAW82043,EAW82044,EAW82045,EAW82046,BAD18586,AAI26162,AAI43923,A0AV05,Q6ZMY9,ADR83032 Hs.521942 zinc finger protein 517 protein-coding 1348764 ZNF518A zinc finger protein 518A 737633 17081983,15489334,15231748,12477932,12168954,9205841 737633 9849 NM_014803,AC021037,CH471066,AB002333,BC030967,BC109045,BC109046,BE900217,CR600301,CR627437 NP_055618,EAW49983,BAA20793,AAH30967,AAI09046,AAI09047,CAH10523,Q6AHZ1 Hs.600823 DKFZp781O2147|MGC125707|MGC125710|ZNF518 OTTHUMP00000020169|zinc finger protein 518|zinc finger protein 518A protein-coding 1604562 ZNF518B zinc finger protein 518B 14702039,12477932,11214970 85460 NM_053042,AC110768,CH471069,AB051516,AK058072,AK092268,AK122755,AL833306,BC040874,BC067880,CD656908,CR605217,CR613517 NP_444270,EAW92692,BAB21820,BAB71650,Q9C0D4 Hs.455089 KIAA1729 OTTHUMP00000217413|zinc finger protein 518B protein-coding 1352204 ZNF519 zinc finger protein 519 737633,1580863 18987618,15489334,14702039,12477932,16344560 737633 162655 NM_145287,AC006557,CH471113,AB209417,AK094128,AK096748,AK124851,BC010705,BC024227,BC037787,DA525188,NR_033354 NP_660330,EAX01497,EAX01498,EAX01499,EAX01500,BAD92654,AAH24227,Q59FP3,Q8TB69,ABZ92114 Hs.352635 FLJ36809|FLJ42861|HsT2362 zinc finger protein 519 protein-coding 1343967 ZNF52 zinc finger protein 52 1505991 7602 1316488 ZNF521 zinc finger protein 521 1580863 19342626,17543573,16344560,14702039,14630787,12477932,12393497,11984006,19049973,20392215 25925 NM_015461,AC104961,AC105114,AC110603,CH471088,AF141339,AJ518106,AK021452,AK027354,AK074046,AK293067,AL117615,BC032869,BC113622,BC113648,BC143727,CA415157,DA102816,EF445043 NP_056276,EAX01201,AAG49442,CAD57322,BAB13829,BAB55056,BAB84872,BAF85756,CAB56016,AAH32869,AAI13623,AAI13649,Q8IYZ2,ACA06095 Hs.116935 DKFZp564D0764|EHZF|Evi3|MGC142182|MGC142208 early hematopoietic zinc finger|zinc finger protein 521 protein-coding 1351738 ZNF524 zinc finger protein 524 737633,1580863 15489334,12477932,16341674 737633 147807 NM_153219,AC008735,BC007396,BC014666,BC067748,BI756946,BM790568 NP_694951,AAH07396,AAH14666,AAH67748,Q96C55,ABM82630,ABM83149,ABM86345 Hs.440291 MGC23143 zinc finger protein 524 protein-coding 1345310 ZNF525 zinc finger protein 525 1580863 16344560,14702039,11853319 170958 NR_003699,AC010467,AC125388,AB075859,AK097037,AK098804,BQ028675,DB221179 BAB85565,BAC05417,Q8N782 Hs.352638 KIAA1979 pseudo 1602838 ZNF526 zinc finger protein 526 14702039,12477932,11853319 116115 NM_133444,AC006486,CH471126,AB075831,AK055681,AK122649,AK298895,AL833399,BC013013 AAH13013,NP_597701,EAW57113,BAB85537,BAG53641,BAG61006,CAH10586,Q8TF50 Hs.137282 DKFZp762O059|KIAA1951|MGC4267 zinc finger protein 526 protein-coding 1347810 ZNF527 zinc finger protein 527 1580863 14702039,12477932,11347906 84503 AK091585,BC014325,DC341389,NM_032453,AC008806,CH471126,AB058732,AK301135 BAC03701,AAH14325,Q8NB42,Q96JJ8,NP_115829,EAW56727,BAB47458,BAG62727 Hs.590940 KIAA1829 zinc finger protein 527 protein-coding 1350395 ZNF528 zinc finger protein 528 15489334,14702039,12477932,11347906 84436 AC010332,NM_032423,CH471135,AB058730,AK023429,AK056552,AL832630,AL833325,BC101712,BC111950,BX640670 NP_115799,EAW72078,EAW72079,BAB47456,BAG51746,CAD89949,AAI01713,AAI11951,Q3MIS6,ABZ92069 Hs.662043 KIAA1827|MGC126761|MGC138155 OTTHUMP00000209962|OTTHUMP00000209965|zinc finger protein 528 protein-coding 1353081 ZNF529 zinc finger protein 529 16344560,15489334,15342556,14702039,12477932,10997877,17207965 57711 NM_001145650,NM_001145649,NM_020951,NR_027239,AC092295,AB046835,AK025110,AK091072,AK094618,AL109722,BC036578,BC064690,BP279443,BX503547,CR604626,DA111996,DA503147,N62934 NP_001139122,NP_001139121,NP_066002,BAB13441,BAB15068,AAH64690,Q6P280,ADQ32998 Hs.654960 KIAA1615 zinc finger protein 529 protein-coding 1350299 ZNF530 zinc finger protein 530 737633 14702039,12477932,10819331 737633 348327 NM_020880,AC003682,CH471135,AB040941,AK096831,AL832740,BC060865 NP_065931,AAC24609,EAW72517,BAA96032,BAG53369,AAH60865,Q6P9A1,ABZ92162 Hs.97111 KIAA1508 zinc finger protein 530 protein-coding 1323323 ZNF532 zinc finger protein 532 737633,1580863 14702039,12477932,10997877,18029348,20379614 737633 55205 AC040963,AC090233,CH471096,AA953833,AB046849,AF295077,AK001559,AK128058,AK308188,AK308571,AY039256,BC036366,BC130618,NM_018181,BC130620,BE219488,BF591635,CR600377,AK298971 NP_060651,EAW63081,EAW63082,EAW63083,EAW63084,BAB13455,BAA91755,BAG54624,AAK72122,AAH36366,AAI30619,AAI30621,Q9HCE3,BAG61065 Hs.529023,Hs.607676 FLJ10697 zinc finger protein 532 protein-coding 1604994 ZNF534 zinc finger protein 534 147658 NM_001143939,NM_001143938,AC010332,CH471135,AB086839,AB086840,HC044871 NP_001137411,NP_001137410,EAW72081,BAD13515,BAD13516,Q1T7F5,Q1T7F6,Q76KX8,Q96LN7,CBH30765 Hs.447583 FLJ25344|KRBO3 KRAB domain only 3|KRAB domain only protein 3|OTTHUMP00000209961|zinc finger protein 534 protein-coding 1351769 ZNF536 zinc finger protein 536 1580863 12477932,9205841,17903293,17065439,14621294 9745 NM_014717,AC011454,AC011504,AB002388,BC132720,BC132722,BC146757,BC150171 NP_055532,BAA20844,AAI32721,AAI32723,AAI46758,AAI50172,O15090 Hs.378901 KIAA0390 zinc finger protein 536 protein-coding 1353871 ZNF539 zinc finger protein 539 399655 NM_203282,BC043147 1350187 ZNF53A zinc finger protein 53a 1505991 7603 1346629 ZNF53B zinc finger protein 53b 1505991 7604 1346331 ZNF540 zinc finger protein 540 1580863 18029348,16815308,15489334,14702039,12477932 163255 NM_152606,AC022148,CH471126,AB074186,AK122597,AK131388,AK290486,AL832100,AL832315,AL832687,BC017940,BC126478,BC126480,BX537980,BF109653,NM_001172225,NM_001172226 Q05D58,Q3LIC5,Q8NDQ6,NP_689819,EAW56739,EAW56740,EAW56741,EAW56742,BAE45743,BAD18539,BAF83175,CAD91161,CAD38611,AAH17940,AAI26479,AAI26481,CAD97942,NP_001165696,NP_001165697 Hs.121283 DKFZp313K2238|DKFZp547B0714|FLJ16004|Nbla10512 putative protein product of Nbla10512|zinc finger protein 540 protein-coding 1321846 ZNF541 zinc finger protein 541 1580863 15489334,12477932,11230166 84215 NM_001101419,AC010331,AC016589,AC073548,CH471126,AL136846,AL833862,AK314169,BC101050,BC101051,BC101052,BC101053 NP_001094889,EAW57499,EAW57500,EAW57501,CAB66780,CAD38720,AAI01051,AAI01052,AAI01053,AAI01054,Q9H0D2 Hs.14161 DKFZp434I1930|MGC119518|MGC119519|MGC119521 zinc finger protein 541 protein-coding 1352644 ZNF542 zinc finger protein 542 15489334,12477932,16344560 147947 NR_003127,NR_024055,NR_024056,NR_024057,AC006116,CH471135,AK097128,AL833621,BC064603,BC089419,BX640680,BX647919,DA095148,DA679733,DA718087,DB051263,AK297170,BX510277,CR622292,DA311525,NR_033418 EAW72442,EAW72443,EAW72444,BAG53424,CAE45809,Q5EBM4,BAG59663 Hs.467326 DKFZp686B2197|DKFZp686I1219 pseudo 1603915 ZNF543 zinc finger protein 543 12477932,16344560 125919 BC101014,BC101015,NM_213598,AC005261,CH471135,AF024696,AK131547,AL834534,BC101012,BC101013,DA994943 AAI01014,AAI01015,AAI01016,O14848,Q08ER8,NP_998763,EAW72492,AAB81086,BAD18681,CAD39190,AAI01013 Hs.202544 DKFZp434H055|MGC119382|MGC119384 zinc finger protein 543 protein-coding 1345922 ZNF544 zinc finger protein 544 15489334,12477932,18029348,18821565 27300 NM_014480,AC020915,CH471135,AF020591,AF024692,AK226080,AK290297,AK291656,AK296846,AK301650,AL833618,BC018980,BC042177,BC067271,CB997427,CR597557,AK316446 NP_055295,EAW72568,EAW72569,AAC01956,AAB81082,BAF82986,BAF84345,BAG59412,BAG63128,AAH42177,AAH67271,O14844,Q6NX49,Q8IVS5,BAH14817 Hs.438994 zinc finger protein 544 protein-coding 1354009 ZNF546 zinc finger protein 546 737633,1580863 16344560,15489334,14702039,12477932,1505991 737633 339327 AK292528,BC045649,DA217689,NM_178544,AC007842,CH471126,AK122968,AK172809 BAF85217,AAH45649,Q6ZME9,Q86UE3,NP_848639,EAW56930,EAW56931,BAG53825,BAD18779 Hs.666807 MGC43537|ZNF49 zinc finger protein 49|zinc finger protein 546 protein-coding 1350845 ZNF547 zinc finger protein 547 1580863 15489334,14702039,12477932 284306 NM_173631,AC003002,CH471135,AK055662,AK291464,AL832545,BC042681 NP_775902,EAW72497,EAW72498,BAB70979,BAF84153,AAH42681,Q8IVP9,ABZ92157 Hs.446620 FLJ31100 zinc finger protein 547 protein-coding 1347267 ZNF548 zinc finger protein 548 737633 15489334,14702039,12477932,15342556 737633 147694 AC003002,CH471135,AK057494,AK299069,BC030788,NM_152909,AW449330,BP244372,NM_001172773 NP_690873,EAW72499,BAB71509,BAG61135,AAH30788,Q8NEK5,NP_001166244 Hs.126905 FLJ32932 zinc finger protein 548 protein-coding 1344121 ZNF549 zinc finger protein 549 737633 16344560,15489334,14702039,12477932 737633 256051 NM_153263,AC003682,CH471135,AK092236,AK094139,AK122749,AK122766,AL833090,BC060863,DB088874,NM_001199295 NP_694995,AAC24605,EAW72509,EAW72510,EAW72511,EAW72512,BAC03834,BAG53703,AAH60863,Q6P9A3,ABZ92124,ACE87401,ACE86715,NP_001186224 Hs.720803,Hs.564295 FLJ34917 zinc finger protein 549 protein-coding 1349618 ZNF54A zinc finger protein 54a 1505991 7605 1347081 ZNF54B zinc finger protein 54b 1505991 7606 1346734 ZNF55 zinc finger protein 55 1580863 1946370,1505991 7607 M88365 AAA61323,Q15927 protein-coding 1346032 ZNF550 zinc finger protein 550 737633,1580863 15592455,15489334,15057824,14702039,12477932 737633 162972 NM_001039654,AC003682,CH471135,AK122867,AK312802,AL833214,BC034810,BC053858,BX538032 NP_001034743,AAC24606,EAW72513,BAG53768,AAH34810,AAH53858,CAD97977,Q7Z398,ABZ92116,ACE87385,ACE86701 Hs.726617 MGC41917 zinc finger protein 550 protein-coding 1348729 ZNF551 zinc finger protein 551 737633,1580863 15489334,15302935,14702039,12477932,2288909 737633 90233 NM_138347,AC004017,CH471135,AK091273,AK300465,AK307670,BC005868,BX538151,DC376440,X52354 NP_612356,EAW72524,BAC03625,BAG62184,AAH05868,CAD98037,CAA36580,Q7Z340 Hs.109540 DKFZp686H1038|MGC52307 KOX 23 protein (56 AA)|zinc finger protein 551|zinc finger protein KOX23 protein-coding 1351619 ZNF552 zinc finger protein 552 1580863 8125298,16344560,14702039,12477932,9373149,20356460 79818 NM_024762,AC010645,CH471135,AK025256,AK097041,AK225219,BC017460,BC046237,BC062982,BC082767,DA345819,AK293445 NP_079038,EAW72535,BAB15093,BAG53411,AAH46237,AAH62982,AAH82767,Q9H707,BAH11507 Hs.560727 FLJ21603 zinc finger protein 552 protein-coding 1343499 ZNF553 zinc finger protein 553 1580863 15489334,14702039,12477932 197407 NM_152652,AC116348,CH471192,AK056313,AL832433,BC007393,BC041388 NP_689865,EAW52250,EAW52251,BAB71146,CAH10657,AAH07393,AAH41388,Q96MX3,ABZ92119 Hs.513501 DKFZp762K013|FLJ31751|MGC43952 protein-coding 1346175 ZNF554 zinc finger protein 554 737633 15489334,14702039,12477932,10737800 737633 115196 AC006130,AC006538,CH471139,AK027860,AK092136,AK299752,BC000113,BC047777,BF772510,DC319914,NM_001102651 NP_001096121,EAW69361,EAW69362,EAW69363,BAG51386,BAC03814,BAG61642,AAH00113,AAH47777,Q86TJ5 Hs.307043 FLJ34817 zinc finger protein 554 protein-coding 1350400 ZNF555 zinc finger protein 555 737633 16381901,15489336,15489334,14702039,12477932,11230166,11076863,8619474,9110174 737633 148254 NM_152791,AC006130,CH471139,AK056659,AK093163,AK292954,AL832140,BC022022,BX647423,AF052118,AK123888,NM_001172775 NP_690004,EAW69360,BAC04082,BAF85643,AAH22022,Q8NEP9,CAL38742,ABZ92112,ACE87527,ACE86840,NP_001166246 Hs.47712 FLJ41894|MGC26707 zinc finger protein 555 protein-coding 1353094 ZNF556 zinc finger protein 556 737633,1580863 15489334,14702039,12477932,9373149 737633 80032 NM_024967,AC006130,CH471139,AK021699,AK225297,BC009374 NP_079243,EAW69357,EAW69358,BAB13878,AAH09374,Q9HAH1,ABZ92063 Hs.287433 FLJ11637 zinc finger protein 556 protein-coding 1345414 ZNF557 zinc finger protein 557 737633 15851553,15489334,15231748,14702039,12477932 737633 79230 BC058040,CD723611,NM_024341,NM_001044388,NM_001044387,AC010606,CH471139,AK095524,AK315405,BC003020,BC031208,AK297283 AAH58040,Q4G137,Q8N988,NP_077317,NP_001037853,NP_001037852,EAW69048,EAW69049,EAW69050,BAC04567,BAG37797,AAH03020,AAH31208,BAG59754 Hs.591380 FLJ96454|MGC4054 zinc finger protein 557 protein-coding 1348018 ZNF558 zinc finger protein 558 1580863 15231747,15489334,14702039,12477932 148156 NM_144693,AC008734,AC012616,CH471106,AK055494,AK291265,AK301664,AK307200,BC064356 NP_653294,EAW83994,EAW83995,BAB70934,BAF83954,BAH13534,AAH64356,Q96NG5,ABZ92111 Hs.659797 FLJ30932 zinc finger protein 558 protein-coding 1352023 ZNF559 zinc finger protein 559 737633,1580863 16189514,15489334,14702039,12477932,15342556,16344560,8889548 737633 84527 NM_032497,AC011451,CH471106,AB075488,AK027700,AK056489,AK092348,AK308517,AK309952,AK310020,AK310117,AK310781,AL389937,BC006436,BC015058,AK298169,AL389938,BP337457,BP417021,BU608632,CF597362,DA457855,DA509657,DA517887,DA731101,DA743493,DA774704,DB158737,DB288007,NM_001202406,NM_001202407,NM_001202408,NM_001202409,NM_001202410,NM_001202411,NM_001202412 NP_115886,EAW84026,EAW84027,EAW84028,EAW84029,EAW84030,BAE45747,BAG51730,AAH06436,Q3LIC1,Q9BR84,ABM84333,ABM87724,BAG60441,NP_001189335,NP_001189336,NP_001189337,NP_001189338,NP_001189339,NP_001189340,NP_001189341 Hs.172979 MGC13105|NBLA00121|Nbla00121 putative protein product of Nbla00121|zinc finger protein 559 protein-coding 1350457 ZNF56 zinc finger protein 56 1580863 1946370,1505991 7608 M88366,AC011477,NG_023190 AAA61324,Q15929 ZNF742 putative zinc finger protein 56 pseudo 1347483 ZNF560 zinc finger protein 560 1580863 16344560,15489334,14702039,12477932 147741 NM_152476,AC008567,AC011451,CH471106,AK056548,BC101039,BC101040,BC101041,BC101042,DA744260 NP_689689,EAW84037,BAB71213,AAI01041,AAI01042,AAI01043,Q96MR9,ABZ92107 Hs.631613 FLJ31986|MGC119490|MGC119493 zinc finger protein 560 protein-coding 1344239 ZNF561 zinc finger protein 561 737633,1580863 15489334,15342556,14702039,12477932 737633 93134 NM_152289,AC008759,CH471106,AK074787,AK122974,AK293004,AK304383,BC012144,BC032668,BP230901,CA415776,CA436025 NP_689502,EAW84043,BAF85693,BAG65220,AAH12144,AAH32668,Q8N587,ABZ92088 Hs.720081 MGC45408 OTTHUMP00000211396|OTTHUMP00000211431|zinc finger protein 561 protein-coding 1354483 ZNF562 zinc finger protein 562 15342556,14702039,12477932,11827452,20379614 54811 NM_017656,NM_001130031,NM_001130032,AC008759,CH471106,AI753280,AK000086,AK297446,AK300115,AK303038,AK304370,AY346375,BC109062,BP221824,CR613353,DC403290,DC405554 NP_060126,NP_001123503,NP_001123504,EAW84044,EAW84045,EAW84046,EAW84047,BAA90935,BAG59872,BAG61910,BAG64161,BAG65209,AAQ54330,AAI09063,Q6V9R5,ABZ92342 Hs.371107 FLJ20079|MGC126160 zinc finger protein 562 protein-coding 1350383 ZNF563 zinc finger protein 563 737633,1580863 16344560,15489334,14702039,12477932,17207965 737633 147837 NM_145276,AC012618,CH471106,AK092116,AK313755,BC022523,DA687547 NP_660319,EAW84268,EAW84269,BAC03810,BAG36494,AAH22523,Q8TA94,ADQ31812 Hs.663510 FLJ34797 zinc finger protein 563 protein-coding 1347487 ZNF564 zinc finger protein 564 1580863 16344560,15489334,14702039,12477932 163050 NM_144976,AC010422,AK092760,BC028367,BC065023,BC136728,BC136729,BX647959,DA619098 NP_659413,BAC03967,AAH28367,AAH65023,AAI36729,AAI36730,Q8TBZ8 Hs.655615 FLJ38281|MGC26914 zinc finger protein 564 protein-coding 1344264 ZNF565 zinc finger protein 565 1580863 16344560,15489334,14702039,12477932 147929 BC068453,DA766324,DB473200,NM_001042474,NM_152477,AC008848,AC012617,AA476586,AK057290,AK094310,AK308212 AAH68453,Q8N9K5,NP_001035939,NP_689690,BAG51897,BAC04328 Hs.596338 FLJ36991 zinc finger protein 565 protein-coding 1349368 ZNF566 zinc finger protein 566 737633,1580863 15489334,15342556,14702039,12477932 737633 84924 NM_001145345,NM_001145343,NM_001145344,NM_032838,AC092295,AC092296,AK027685,AK074497,AK299393,AK316262,BC007064,BC104886,BC104888,BC143658,BP351422,BX649070,DC373988,DC413210 NP_001138817,NP_001138815,NP_001138816,NP_116227,BAB55296,BAC11023,BAG61378,BAH14633,AAH07064,AAI04887,AAI04889,AAI43659,Q8N2S2,Q969W8,ABZ92076 Hs.533939 FLJ14779|MGC12515 OTTHUMP00000045831|OTTHUMP00000208412|OTTHUMP00000208413|zinc finger protein 566 protein-coding 1346041 ZNF567 zinc finger protein 567 737633,1580863 16189514,15489334,14702039,12477932 737633 163081 NM_152603,AC074138,AK093034,AK126691,AK298556,AK303326,AK313647,BC033849,BX640706 NP_689816,BAG52638,BAG54361,BAG60751,BAG64392,BAG36403,AAH33849,CAE45826,Q8N184,ABM82260,ABM85443 Hs.412517 MGC45586 zinc finger protein 567 protein-coding 1342686 ZNF568 zinc finger protein 568 1580863 16344560,14702039,12477932,20855565 374900 NM_198539,AC008733,AK093123,AK095559,AK299626,BC016334,BC031218,BC041927,BC108696,BC111777,BC131547,BX640681,DA010273 NP_940941,BAC04064,BAG61554,AAH16334,AAH31218,AAI31548,CAE45810,Q3ZCX4,Q96AZ9 Hs.720925,Hs.404220 DKFZp667O0524|DKFZp686B0797|FLJ34820|FLJ35804 zinc finger protein 568 protein-coding 1354291 ZNF569 zinc finger protein 569 737633 1505991,16793018,14702039,12477932,1946370,16712791 737633 148266 NM_152484,AC008806,CH471126,M88363,AK056615,AK122846,AK289987,AL833408,AY835704,BC032896,BC038737,BC059407,BC117219,CB151734 NP_689697,EAW56728,EAW56729,EAW56730,EAW56731,AAA61321,BAF82676,AAV97944,AAI17220,Q17RR6,Q5MCW4 Hs.511848 FLJ32053|ZAP1|ZNF DNA-binding protein|zinc finger protein 569 protein-coding 1343175 ZNF57 zinc finger protein 57 15489334,12477932,1946370,1505991,20356463 126295 NM_173480,AC119403,CH471139,M88368,AK302165,AK314848,BC028974,BX537601,EF534355 NP_775751,EAW69355,EAW69356,AAA61326,BAG63532,BAG37365,AAH28974,CAH18455,ABQ10558,Q15931,Q68EA5,ABZ92096 Hs.591378 ZNF424 zinc finger protein 424|zinc finger protein 57 protein-coding 1349071 ZNF570 zinc finger protein 570 1580863 12477932,14702039 148268 NM_144694,AC008806,CH471126,AK055353,AK297561,AK308252,BC130425,BC130433 NP_653295,EAW56732,BAB70908,BAG59953,AAI30426,AAI30434,Q96NI8 Hs.350875 FLJ30791 zinc finger protein 570 protein-coding 1345171 ZNF571 zinc finger protein 571 1580863 16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863,11042152 51276 AK055039,AK291413,BC040591,BC113870,BC114479,BX537401,AK131351,NM_016536,AC022148,CH471126,AF161544 AAF29031,BAF84102,AAH40591,AAI13871,AAI14480,CAD97643,Q24JS6,Q7Z3V5,CAL37804,ABZ92332,NP_057620,EAW56737,EAW56738 Hs.590944 FLJ16374|HSPC059|MGC138690 zinc finger protein 571 protein-coding 1353007 ZNF572 zinc finger protein 572 1580863 16381901,16344560,15489336,14702039,12477932,11230166,11076863,11256614 137209 AC009908,CH471060,AK095321,BC130515,BC130517,BX537876,DB093007,NM_152412 NP_689625,EAW92077,BAC04529,AAI30516,AAI30518,CAD97876,Q7Z3I7,CAL38262,ADR83211 Hs.175350 FLJ38002 zinc finger protein 572 protein-coding 1350499 ZNF573 zinc finger protein 573 737633,1580863 15489334,14702039,12477932,15342556,16344560 737633 126231 NM_152360,AC016582,AC093227,CH471126,AK055483,AK074539,BC015418,BC029468,BC042170,BC051263,BC064962,BG572864,BP274132,DA778380,DB121870,NM_001172689,NM_001172690,NM_001172691,NM_001172692 NP_689573,EAW56751,EAW56752,EAW56753,BAB70929,BAC11047,AAH15418,AAH29468,AAH42170,AAH51263,AAH64962,Q6PIT4,Q86YE8,ABZ92095,NP_001166160,NP_001166161,NP_001166162,NP_001166163 Hs.531262 FLJ30921 zinc finger protein 573 protein-coding 1322875 ZNF574 zinc finger protein 574 737633 16964243,16344560,15489334,14702039,12477932,9373149,8125298 737633 64763 AC022515,CH471126,AF447880,AK025712,AK027895,AK074788,AK131369,AK131418,AK225342,AL137516,BC001184,BC071962,CR605938,DA404303,NM_022752 NP_073589,EAW57093,AAQ04655,BAB15225,BAC11210,BAD18520,BAD18565,CAB70782,AAH01184,AAH71962,Q6ZN55,Q71MF7,Q9NT61 Hs.726232 FLJ22059|FP972 zinc finger protein 574 protein-coding 1312810 ZNF575 zinc finger protein 575 737633,1580863 15489334,14702039,12477932,19773279 737633 284346 NM_174945,AC018758,CH471126,AK057129,AK301820,BC043611,CR597282 NP_777605,EAW57198,EAW57199,EAW57200,BAG51869,BAG63266,AAH43611,Q86XF7 Hs.213534 FLJ32567 zinc finger protein 575 protein-coding 1353037 ZNF576 zinc finger protein 576 737633 17081983,15489334,15342556,14702039,12477932 737633 79177 NM_001145347,AC006276,CH471126,CS072412,AK026353,BC002981,BP358040,CR621953,NM_024327 NP_001138819,EAW57206,EAW57207,EAW57208,CAI93550,BAB15458,AAH02981,Q9H609,ABZ92055,NP_077303 Hs.11110 FLJ22700|FLJ56397|MGC2508 zinc finger protein 576 protein-coding 1350365 ZNF577 zinc finger protein 577 737633,1580863 16344560,15489334,14702039,12477932 737633 84765 AC006272,AC011460,AC074141,CH471135,AK056853,AK093036,AK289479,AK291812,AL832871,BC004992,BC030610,BC035367,BU949047,DA874803,DB457499,NR_024181,NM_032679,NM_001135590 EAW72046,EAW72047,EAW72048,EAW72049,BAF82168,BAF84501,AAH04992,Q9BSK1,ABZ92072,NP_116068,NP_001129062 Hs.148322 FLJ32291|MGC4400 OTTHUMP00000211377|OTTHUMP00000211379|OTTHUMP00000211380|zinc finger protein 577 protein-coding 1346407 ZNF578 zinc finger protein 578 1580863 14702039,12477932 147660 NM_001099694,AC010332,AC010506,AC022150,AB091373,AB091374,AB091375,AB091376,AK055946,AK095562,AK299106,BC103904,BC115704,BX955279 NP_001093164,BAE93189,BAE93190,BAE93191,BAE93192,BAB71051,BAC04574,BAG61163,AAI03905,AAI15705,Q1T7F1,Q3MI94,Q8N981,Q96N58 Hs.157287 FLJ31384 zinc finger protein 578 protein-coding 1318265 ZNF579 zinc finger protein 579 1580863 16964243,15302935,15146197,14702039 163033 NM_152600,AC008735,CH471135,CQ859782,CQ859784,AK092772,AW003562,BC042926,CN340494,CX781546 NP_689813,EAW72390,CAH25941,CAH25942,BAC03972,Q8NAF0 Hs.112529 FLJ35453 zinc finger protein 579 protein-coding 1315767 ZNF580 zinc finger protein 580 20382120,16341674,16189514,15489334,12477932,8889548,17207965 51157 NM_207115,NM_016202,NM_001163423,AC008735,CH471135,AF184939,AK123294,AK314888,AL359054,BC017698,BM700178,BM710177,BM793208,BQ477323,BU179609,CR609067,CR616291 NP_996998,NP_057286,NP_001156895,EAW72399,AAD56549,BAG37402,CAB94389,AAH17698,Q9UK33,ADQ31690 Hs.631551 LDL induced EC protein|LDL-induced EC protein|zinc finger protein 580 protein-coding 1343314 ZNF581 zinc finger protein 581 737633,1580863 12477932,11042152,16189514,15489334 737633 51545 NM_016535,AC008735,CH471135,AF151023,AK026203,AK315603,BC001219,BC010097,BC071620,BC071845,CR601401,CR609477,CR619004 NP_057619,EAW72400,AAF36109,BAG37973,AAH01219,AAH10097,AAH71620,AAH71845,Q9P0T4,ABM84519,ABM85847 Hs.20768 FLJ22550|HSPC189 zinc finger protein 581 protein-coding 1353424 ZNF582 zinc finger protein 582 737633,1580863 15489334,14702039,12477932 737633 147948 NM_144690,AC006116,CH471135,AK055489,AK299036,BC011796,BC056238,BC101008,BC101009,BC101010,BC101011,AK316028 NP_653291,EAW72445,EAW72446,EAW72447,EAW72448,BAB70931,BAG61111,AAH11796,AAI01009,AAI01010,AAI01011,AAI01012,Q96NG8,ABZ92108,BAH14399 Hs.244391 FLJ30927 zinc finger protein 582 protein-coding 1350167 ZNF583 zinc finger protein 583 1580863 16344560,15489334,15342556,14702039,12477932 147949 NM_152478,NM_001159860,NM_001159861,AC006116,CH471135,AF024698,AK055592,AL833236,BC111772,BP247825,DA407197,DA785623,DA942855 NP_689691,NP_001153332,NP_001153333,EAW72452,AAB81088,BAB70964,AAI11773,Q96ND8,ABZ92109 Hs.146854,Hs.726280 FLJ31030|MGC133237 zinc finger protein 583|zinc finger protein L3-5 protein-coding 1348200 ZNF584 zinc finger protein 584 737633,1580863 15489334,14702039,12477932 737633 201514 NM_173548,AC012313,CH471135,AK097218,AK290068,AK298929,BC017651,BC033149,CR596442 NP_775819,EAW72587,EAW72588,EAW72589,BAF82757,BAG61033,AAH17651,AAH33149,Q8IVC4,Q8WVQ2,ABZ92122 Hs.439551 FLJ39899 zinc finger protein 584 protein-coding 1604726 ZNF585A zinc finger protein 585A 14702039,12477932,15489334 199704 NM_152655,NM_199126,AC012309,AF086428,AK056389,AK074345,AK123296,AK290660,BC026081,BC039557,BC052956,BC063820,BG771823,CA446889 NP_689868,NP_954577,BAB71174,BAB85057,BAF83349,AAH63820,Q6P3V2 Hs.390568,Hs.659236 FLJ23765|FLJ31827 zinc finger protein 585A protein-coding 1353931 ZNF585B zinc finger protein 585B 737633 15489334,14702039,12477932,16169070 737633 92285 AK091586,AK094989,AY147015,BC029737,BC051277,BC067088,BC080550,BC093625,NM_152279,AC012309,AK027834,AK090574,BX440867 BAB55400,BAG52387,BAG52967,AAN61169,AAH93625,Q52M93,Q8N7B4,ABZ92085,NP_689492 Hs.390568 FLJ14928|FLJ33255|SZFP41 zinc finger protein 41-like protein|zinc finger protein 585B protein-coding 1348673 ZNF586 zinc finger protein 586 737633,1580863 16344560,14702039,12477932 737633 54807 AC003006,CH471135,AB074270,AK000077,AK095993,AK300419,AK302151,BC027922,BC041660,BC051325,BC124558,DA904413,NM_017652 EAW72533,EAW72534,BAA90930,BAG53191,BAG62148,BAG63522,AAH27922,AAI24559,Q8N6X9,Q9NXT0,NP_060122 Hs.625133 FLJ20070 zinc finger protein 586 protein-coding 1346702 ZNF587 zinc finger protein 587 1580863 17474147,15489334,15231748,12477932,10520746,14702039 84914 NM_032828,AC010326,AC010522,CH471135,AF294842,AK000820,AK026676,AK027616,AK055448,AK095812,AK122919,AK160374,AK303856,BC011243,BC011810,BC017219,BC126237,BC126239,BC144112,BC144113,U71363,AC010645,AK299091 NP_116217,EAW72538,AAK58839,BAA91388,BAB15523,BAB55235,BAG53137,BAD18717,BAG64797,AAI26238,AAI26240,AAB16809,Q92967,Q96JB9,Q96SQ5,Q9NWJ2,BAG61153 Hs.642598,Hs.723819 FLJ14710|FLJ20813|FLJ52732|ZF6 OTTHUMP00000206925|zinc finger protein 587|zinc finger protein zfp6 protein-coding 1343483 ZNF588 zinc finger protein 588 1580863 10673043,15489334,15231748,12477932 51427 Q8WVL4,Q9H3U2,Q9UII5 NM_016220,NM_001013746,AC091799,CH471204,AB014735,AB027251,BC017809,BC047243 NP_057304,NP_001013768,EAW77973,EAW77974,EAW77975,EAW77976,EAW77977,EAW77978,BAB20272,BAA85623,AAH17809,AAH47243,Q8WVL4,Q9H3U2,Q9UII5 Hs.50216 ZFD25|smap-7 protein-coding 1353484 ZNF589 zinc finger protein 589 1580863 18029348,12477932,10029171 51385 NM_016089,AC104190,CH471055,AF114816,AF114817,AK298782,AL832831,AY258146,BC005859,BC006247,BC008213,BC028160,BC048798,BC062690,AB209387 NP_057173,EAW64855,EAW64856,EAW64857,EAW64858,EAW64859,EAW64860,AAD38879,AAD38880,BAG60921,CAI46129,AAP14679,AAH05859,AAH06247,AAH08213,AAH48798,Q59FS2,Q86UQ0,Q96JS8,BAD92624,AAI66625 Hs.172602 SZF1 KRAB-zinc finger protein SZF1-1|OTTHUMP00000210750|OTTHUMP00000210751|OTTHUMP00000210752|stem cell zinc finger protein 1|zinc finger protein 589 protein-coding 1348055 ZNF59 zinc finger protein 59 7550 1318632 ZNF592 zinc finger protein 592 1580863 15302935,17081983,15489334,20360844,12030328,15231748,14702039,12477932,9039502,20531441 9640 NM_014630,AC012291,CH471101,AA835974,AK090507,BC040038,BC094688,BC112232,BC112234,BC143600,BG757479,BQ217254,CR590370,D86966,NG_028094 NP_055445,EAX01957,EAX01958,EAX01959,AAH94688,AAI12233,AAI12235,BAA13202,Q92610 Hs.79347 CAMOS|KIAA0211|MGC138437|MGC138439|SCAR5 zinc finger protein 592 protein-coding 1320928 ZNF593 zinc finger protein 593 737633,1580863 9115366,18287285,16344560,15489334,12477932,12429849,16169070 737633 51042 NM_015871,AL391650,CH471059,AI083892,AK311926,BC002580,BC019267,D45213,DA124660 NP_056955,CAI17137,EAX07843,BAG34867,AAH02580,AAH19267,BAA20369,O00488,ABZ92327 Hs.477273 ZT86 zinc finger protein 593|zinc finger protein T86 protein-coding 1343049 ZNF594 zinc finger protein 594 1580863 16344560,11347906,11181995,7865130,16169070,12477932 84622 NM_032530,AC012146,AC087500,CH471108,AB058774,AK131271,AL833185,AY500358,BC136604,BX472376,DA448705 NP_115919,EAW90352,EAW90353,BAB47500,BAD18449,AAS55108,AAI36605,Q6ZNC6,Q96JF6 Hs.658402 DKFZp667J055 zinc finger protein 594|zinc finger protein HZF18 protein-coding 1352410 ZNF595 zinc finger protein 595 737633,1580863 15489334,14702039,12477932 737633 152687 NM_182524,CH471131,AK056302,AK300505,AK301848,AK309855,BC036110,BC043151,BX537887 NP_872330,EAW82675,BAG51673,BAG62218,BAG63291,AAH36110,AAH43151,CAD97883,Q7Z3I0,Q8IYB9,ACE87352,ACE86668 Hs.709469 FLJ31740 zinc finger protein 595 protein-coding 1353829 ZNF596 zinc finger protein 596 737633,1580863 16421571,16344560,15489334,14702039,12477932 737633 169270 NM_173539,NM_001042416,NM_001042415,AC004908,CH471181,AK313454,BC026190,CR747438,DA685143,DA714658,DB053699,DN995476,DR006332 NP_775810,NP_001035881,NP_001035880,AAD05197,EAW51447,BAG36241,AAH26190,Q8TC21 Hs.591388 FLJ36123 zinc finger protein 596 protein-coding 1351139 ZNF597 zinc finger protein 597 737633,1580863 18029348,15489334,14702039,12477932 737633 146434 NM_152457,AC025283,CH471112,AK057633,BC029899 NP_689670,EAW85367,BAB71538,AAH29899,Q96LX8,ABZ92104 Hs.88630 FLJ33071 zinc finger protein 597 protein-coding 1312605 ZNF598 zinc finger protein 598 737633 16094384,15592455,15489334,14702039,12477932,16169070 737633 90850 NM_178167,AC005606,CH471112,AK024487,AL834428,BC010990,BC029270,BC041015,BC050477 NP_835461,EAW85569,EAW85570,EAW85571,EAW85573,EAW85574,EAW85575,BAB15777,CAD39089,AAH10990,AAH41015,AAH50477,Q86UK7,EAW85572 Hs.343828 DKFZp762F135|FLJ00086 zinc finger protein 598 protein-coding 1603572 ZNF599 zinc finger protein 599 15489334,14702039,12477932 148103 BC033354,NM_001007248,AC020910,AK055225,AK302548,AK307339,BC044615,BC092428,CR624140 NP_001007249,BAB70879,BAH13738,AAH44615,AAH92428,Q96NL3,ABZ92110 Hs.590961 FLJ50920 zinc finger protein 599 protein-coding 1349599 ZNF60 zinc finger protein 60 1505991 7611 1343964 ZNF600 zinc finger protein 600 1580863 14702039,12576331,20936779 162966 NM_198457,AC008813,CH471135,AK075230,AK131231,BX640933,U52096 NP_940859,EAW72095,EAW72096,BAD18414,CAE45968,AAA97912,Q13580,Q6ZNG1,Q8N692 Hs.696848 DKFZp686F06123|KR-ZNF1 zinc finger protein 600|zinc finger protein KR-ZNF1 protein-coding 1346158 ZNF601P zinc finger protein 601 pseudogene 493824 1349597 ZNF602P zinc finger protein 602 pseudogene 493820 1346602 ZNF603P zinc finger protein 603 pseudogene 493821 1344825 ZNF604P zinc finger protein 604 pseudogene 493817 1353121 ZNF605 zinc finger protein 605 14702039,12477932,11181995,17974005 100289635 NM_183238,AC073911,AC127070,CH471218,AK027873,AK122878,AL832191,AL832623,BC020877,BF476024,NM_001164715 NP_899061,EAW54805,EAW54806,EAW54807,BAG53776,CAD91163,CAD89946,AAH20877,Q86T29,NP_001158187,Q8WW51 Hs.29698,Hs.720299 DKFZp451B1818|DKFZp686B222|FLJ14967|FLJ16520 zinc finger protein 605 protein-coding 1320347 ZNF606 zinc finger protein 606 737633,1580863 15964554,15489334,14702039,12477932,11347906,8889549 737633 80095 NM_025027,AC008969,AC010326,CH471135,AA033715,AB058755,AF455357,AK024322,AK056696,AK293097,BC022533,BC036570,BC037209,AK294037 NP_079303,EAW72546,EAW72547,EAW72548,BAB47481,AAL58442,BAB14883,BAF85786,AAH37209,Q8WXB4,Q9H7U2,BAG57389 Hs.654967 FLJ14260|KIAA1852|ZNF328 zinc finger protein 328|zinc finger protein 606 protein-coding 1343824 ZNF607 zinc finger protein 607 737633 12477932,14702039,16189514,15489334,19851296,20198315 737633 84775 NM_032689,AC093227,CH471126,AB209242,AK027708,AK127464,AK131557,AK131559,BC005085,BC014850,NM_001172677 NP_116078,EAW56748,EAW56749,EAW56750,BAD92479,BAB55313,BAD18691,BAD18693,AAH05085,AAH14850,Q59G67,Q6ZMN2,Q96SK3,Q9BSE8,NP_001166148 Hs.116622 FLJ14802|MGC13071 zinc finger protein 607 protein-coding 1315658 ZNF608 zinc finger protein 608 15146197,14702039,12477932,12168954,18029348,10508479,15489334,10574462,20932654,20935630 57507 NM_020747,AC112196,AC113398,CH471086,AB033107,AF155106,AK056247,AL117587,BC038370,BC045828,BC103742,BC131507,BC151226,CN406017,CR749624 NP_065798,EAW48858,EAW48859,EAW48860,EAW48861,BAA86595,AAD42872,BAG51658,CAB56008,AAH38370,AAI03743,AAI31508,AAI51227,CAH18418,Q9UFL4,Q9ULD9 Hs.266616 DKFZp781C0723|MGC166851|NY-REN-36 OTTHUMP00000223019|renal carcinoma antigen NY-REN-36|zinc finger protein 608 protein-coding 1349333 ZNF609 zinc finger protein 609 737633,1580863 16341674,15489334,12477932,9205841,17081983,16713569,16572171 737633 23060 NM_015042,AC090543,AC091231,CH471082,AB002293,AW956219,BC000648,BC009226,BC014251,BC029441,BC050315,BC084543,BC110401,BC142647,BM791986 NP_055857,EAW77686,EAW77687,EAW77688,BAA20755,AAI10402,AAI42648,O15014 Hs.727636,Hs.595451,Hs.696256 KIAA0295|MGC164858 zinc finger protein 609 protein-coding 1354121 ZNF610 zinc finger protein 610 737633,1580863 16344560,15489334,14702039,12477932 737633 162963 NM_173530,NM_001161425,NM_001161426,NM_001161427,AC010320,CH471135,AK093359,AK290888,AL831871,BC039903,BC105967,DA133752,DB577508 NP_775801,NP_001154897,NP_001154898,NP_001154899,EAW72073,EAW72074,EAW72075,BAC04144,BAF83577,CAD38559,AAH39903,AAI05968,Q8N9Z0,ABZ92115 Hs.147025 DKFZp547A1010|FLJ36040|MGC102679 zinc finger protein 610|zink finger protein protein-coding 1351809 ZNF611 zinc finger protein 611 737633,1580863 14702039,12477932,16344560 737633 81856 DA245006,DA726181,DB122407,NM_030972,NM_001161499,NM_001161500,NM_001161501,AC008813,AC022150,CH471135,AK021787,AK091389,AK097434,AL834123,BC000918,BC028590,BC071949,BC136343,BC143996,DA225124,DA226106 Q8N823,NP_112234,NP_001154971,NP_001154972,NP_001154973,EAW72093,EAW72094,BAG52347,BAC05052,CAH10596,AAI36344 Hs.143951 MGC5384 zinc finger protein 611 protein-coding 1346771 ZNF613 zinc finger protein 613 737633 15489334,14702039,12477932 737633 79898 NM_024840,NM_001031721,AC011460,CH471135,AK023652,AK027565,BC057776,CA427456 NP_079116,NP_001026891,EAW72052,EAW72053,EAW72054,EAW72055,BAB55201,AAH57776,Q6PF04 Hs.183390 FLJ13590 zinc finger protein 613 protein-coding 1342737 ZNF614 zinc finger protein 614 737633,1580863 16344560,15489334,14702039,12477932 737633 80110 BU154861,DA940231,DC368937,AC011468,CH471135,AK023547,AK025594,AK097156,AK309346,BC004930,BC022246,BC101392,BC101393,BC101394,BC101395,BG179764,BG286230,BG436055,BG493979,BG687087,BI913696,BM129588,BQ025846,NM_025040 Q8N883,Q9BSN8,Q9H6R9,NP_079316,EAW72058,EAW72061,BAB15184,BAC04966,AAH04930,AAH22246,AAI01393,AAI01394,AAI01395,AAI01396 Hs.292336 FLJ21941|MGC120638 zinc finger protein 614 protein-coding 1353580 ZNF615 zinc finger protein 615 737633,1580863 16344560,14702039,12477932 737633 284370 BX648594,NM_198480,AC011460,AC011468,AK091029,AK094071,AK096691,AK128361,AK131494,AK291734,AK294977,BC053884,BC105100,BC105102,BC112961,BC143429,BX647556,DA095942,DA236166,DA244381,NM_001199324,CR936612 NP_940882,BAC87399,BAD18638,BAF84423,BAG58048,AAI05101,AAI05103,AAI43430,NP_001186253,CAI56755,Q8N8J6 Hs.368355 DKFZp686O1554|FLJ33710|FLJ39372 zinc finger protein 615 protein-coding 1605318 ZNF616 zinc finger protein 616 15489334,14702039,12477932 90317 CD048470,NM_178523,AC011468,AK025434,AK092266,AL832969,BC032805,BC033199,BC125099,BC125100 NP_848618,BAG52513,CAH56353,AAH33199,AAI25100,AAI25101,Q08AN0,Q08AN1 Hs.645225,Hs.656670 MGC149778|MGC45556 zinc finger protein 616 protein-coding 1349101 ZNF617 zinc finger protein 617 404666 1321825 ZNF618 zinc finger protein 618 737633,1580863 12477932,11853319,20583170,19724895,19851296,20198315 737633 114991 NM_133374,AL137850,AL162393,CH471090,AB075832,AF147430,AF495724,AJ420454,AK126896,BC012922,BC036039,BC053892,BC130642,BC130644,BC136287,BC143826,BI463128 NP_588615,CAI15896,CAI15898,CAI15241,CAI15242,CAI15243,EAW87401,EAW87402,EAW87403,BAB85538,AAQ06678,AAH12922,AAH36039,AAH53892,AAI36288,Q5T7W0,Q71JB3 Hs.349208 FP13169|NEDD10 OTTHUMP00000021964|neural precursor cell expressed, developmentally down-regulated 10|zinc finger protein 618 protein-coding 1343654 ZNF619 zinc finger protein 619 1580863 14702039,12477932,8889548 285267 NR_026746,NM_001145093,NM_001145083,AC121754,CH471055,CQ783354,AK075245,AK304139,AK304741,AK304793,BC117169,BC143304,BC143306,NM_001145082,BC143331,BC143332,BM665474,DC308744 NP_001138554,NP_001138565,NP_001138555,EAW64611,EAW64612,CAF86560,BAC11495,BAG65033,BAH14249,BAG65543,AAI17170,AAI43307,Q17RW3,Q8N2I2 Hs.407159 FLJ90764 OTTHUMP00000209111|zinc finger protein 619 protein-coding 1606672 ZNF620 zinc finger protein 620 14702039,12477932 253639 NM_175888,NR_024114,AC121754,CH471055,AK093599,AK131232,BC044953 NP_787084,EAW64613,EAW64614,EAW64615,EAW64616,BAC04203,BAD18415,Q6ZNG0,AAI48387,AAI53009 Hs.581541 MGC50836 OTTHUMP00000209109|zinc finger protein 620 protein-coding 1354066 ZNF621 zinc finger protein 621 16344560,15489334,14702039,12477932 285268 NM_001098414,AC122683,AK074366,AK127181,BC101619,BC113415,CR749268,DA282973,DB480668,NM_198484 NP_940886,NP_001091884,BAB85061,AAI01620,AAI13416,CAH18124,Q6ZSS3,ABZ92159,BAC86873,ADR83177 Hs.19977 DKFZp686B11107|FLJ23786|FLJ45246|MGC126668 OTTHUMP00000209112|zinc finger protein 621 protein-coding 1319325 ZNF622 zinc finger protein 622 1580863 15489334,15635413,12645566,12477932,11802789 90441 NM_033414,AC020980,CH471102,AY046059,BC008752,BC010545,CR591618,CR599167,CR604339,CR605829,CR609231,CR624161,CR624583,CR626791 NP_219482,EAX08025,AAL02121,AAH08752,AAH10545,Q969S3 Hs.60300 MGC17552|MGC2485|ZPR9 zinc finger protein 622|zinc finger-like protein 9 protein-coding 1345531 ZNF623 zinc finger protein 623 1580863 16344560,15489334,12477932,9734811 9831 BC112899,BF983220,BX477157,DA100931,DA211779,DB161675,DB227885,DB452301,NM_001082480,NM_014789,AC067930,AC105210,CH471162,AB014528,AK294695,AW161801,BC067516,BC067517,BC067518,BC075056,BC075057,BC112898 AAI12900,O75123,ABZ92283,NP_001075949,NP_055604,EAW82215,EAW82216,BAA31603,BAG57854,AAH67516,AAH67517,AAH67518,AAH75056,AAH75057 Hs.43133,Hs.694018 MGC103965|MGC104128 zinc finger protein 623 protein-coding 1342948 ZNF624 zinc finger protein 624 20453000,16344560,12477932,10718198 57547 BF435259,DA808501,NM_020787,AC005822,AC092714,CH471222,AB037770,AI913542,AK131401,BC103943,BC103944,BC103945,DA318803,AC098850,BC103946 NP_065838,EAX04519,BAA92587,BAD18548,AAI03944,AAI03945,AAI03947,Q9P2J8 Hs.128078 KIAA1349|MGC119602|MGC119603|MGC119605 OTTHUMP00000065230|zinc finger protein 624 protein-coding 1352371 ZNF625 zinc finger protein 625 737633,1580863 15489334,12477932 737633 90589 NM_145233,AC022415,CH471106,AK292455,BC007868,BC101589,BC101591,BC143563 NP_660276,EAW84261,EAW84262,EAW84263,BAF85144,AAH07868,AAI01590,AAI01592,AAI43564,Q96I27,ABZ92080 Hs.512823 zinc finger protein 625 protein-coding 1322437 ZNF626 zinc finger protein 626 737633,1580863 12477932 737633 199777 NM_001076675,NM_145297,AC010636,CH471106,AA525169,AK091329,AK096221,BC007116,BC107803,BX648764,CR749233 NP_001070143,NP_660340,EAW84878,EAW84879,BAC04729,AAH07116,AAI07804,CAH18089,Q68DY1,Q96QM1,AAI72239,AAI72571,ABZ92121 Hs.657001 MGC104224 zinc finger protein 626 protein-coding 1347134 ZNF627 zinc finger protein 627 737633 18077766,17967605,16344560,15489334,14702039,12477932,12016960,19709766 737633 199692 AK075063,NM_145295,AC020947,AC104527,CH471106,CQ783708,AF024694,AK074846,AK095639,BC006279,BC069232,BC098416,DB043358 NP_660338,EAW84236,EAW84237,CAF86822,AAB81084,BAC11240,BAC11379,AAH06279,AAH69232,AAH98416,Q7L945,Q8NC25,ABZ92120 Hs.526665 FLJ90365 zinc finger protein 627 protein-coding 1606755 ZNF628 zinc finger protein 628 Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM] 15556296,15489334,12477932 89887 NM_033113,AC008735,AF367249,BC016036,BC047332,BC089449 NP_149104,AAK68716,AAH47332,AAH89449,Q5EBL2,Q96JA5 Hs.525209 MGC105139|ZEC|Zfp628 OTTHUMP00000197269|zinc finger protein 628|zinc finger protein Zec protein-coding 1314773 ZNF629 zinc finger protein 629 1580863 9205841,1946370,1505991,12477932,18029348 23361 NM_001080417,AC106886,CH471192,M88374,AB002324,AK026115,BC015676,BC047041,BC063520,BC080594 NP_001073886,EAW52195,AAA61332,BAA20784,Q9UEG4 Hs.301094 KIAA0326|ZNF|ZNF65 DNA-binding protein|zinc finger protein 629|zinc finger protein 65 protein-coding 1352479 ZNF63 zinc finger protein 63 7614 1352524 ZNF630 zinc finger protein 630 20186789,16344560,15489334,12477932 57232 BX419623,DC319369,DC352599,NG_022889,NM_001190255,NR_033730,NM_001037735,CH471164,Z98304,AK000580,AK307979,BC037316,BC112139,BX116378,DA114160,DC353064 CAQ52589,CAQ52590,CAQ52591,NP_001177184,NP_001032824,EAW59337,EAW59338,CAI42941,AAI12140,Q2M218,ABZ92359 Hs.650883 FLJ20573|FLJ97927|FLJ98691|MGC138344|dJ54B20.2 OTTHUMP00000202169|OTTHUMP00000205040|dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger protein)|zinc finger protein 630 protein-coding 1349975 ZNF638 zinc finger protein 638 The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq] 15815621,15302935,14702039,12477932,11813260,11149944,9757574,15778465,15489334,8647861,17081983,16964243,16565220,16189514,20201926,20237496 27332 NM_014497,NM_001014972,AC007878,AC096569,AC104084,AC109343,BX649179,CH471053,AF273049,AF534078,AK093578,AK098006,AK128706,AK291198,AK293938,AK303723,AK309221,BC010355,BC024000,BC064530,BC083513,BC143728,BX537425,CR591856,CR749322,D83032 CAD97667,NP_055312,NP_001014972,AAF66079,AAY14979,AAX82028,EAW99767,EAW99768,EAW99769,EAW99770,EAW99771,EAW99772,AAG34909,AAM97681,BAC87583,BAF83887,BAG57315,BAG64699,AAH24000,AAH64530,AAH83513,AAI43729,CAH18177,BAA11748,Q14966,Q57Z90,Q6ZQV0 Hs.434401 DKFZp686P1231|MGC26130|MGC90196|NP220|ZFML|Zfp638 CTCL tumor antigen se33-1|CTCL-associated antigen se33-1|NP220 nuclear protein|OTTHUMP00000202229|cutaneous T-cell lymphoma-associated antigen se33-1|nuclear protein 220|zinc finger matrin-like protein|zinc finger protein 638|zinc finger, matrin-like protein-coding 1353900 ZNF639 zinc finger protein 639 737633,1580863 16182284,19615732,16713569,16051665,15489334,14522885,12477932 737633 51193 NM_016331,AC007823,CH471052,AB097862,AF003924,BC020500,BC026181,CR614635,CR616193,CR617398,DQ323613 NP_057415,EAW78413,EAW78414,EAW78415,EAW78416,BAC77610,AAF21240,AAH20500,AAH26181,ABD27860,Q9UID6,ABZ92331 Hs.632578 6230400O18Rik|ANC-2H01|ANC_2H01|ZASC1 Kruppel-like|OTTHUMP00000212173|OTTHUMP00000212175|OTTHUMP00000212195|OTTHUMP00000212196|OTTHUMP00000212197|OTTHUMP00000212198|zinc finger amplified in esophageal squamous cell carcinomas 1|zinc finger protein 639|zinc finger protein ANC_2H01|zinc finger protein ZASC1 protein-coding 1343222 ZNF64 zinc finger protein 64 1505991 7615 1606174 ZNF641 zinc finger protein 641 16343441,14702039,12477932,18029348 121274 NM_152320,AC024257,CH471111,AK055857,AK092740,AK298064,AL713659,AY842285,BC018090,DB445168,NM_001172681,NM_001172682 NP_689533,EAW57980,EAW57981,EAW57982,BAB71031,BAG52605,BAG60357,CAD28468,AAW28082,AAH18090,Q96N77,NP_001166152,NP_001166153 Hs.23492 DKFZp667D1012|FLJ31295 zinc finger protein 641 protein-coding 1343701 ZNF642 zinc finger protein 642 8889548,16710414,16344560,15489334,14702039,12477932,10737800,19578398,20379614 339559 NM_198494,AL603839,CH471059,AK122618,BC041873,BC078148,BC144174,BM677727,CV374692,CX871163,DA687888 NP_940896,CAI16297,EAX07215,BAC85492,AAH41873,Q49AA0 Hs.434385 FLJ16030|RP11-656D10.2|Zfp69 zinc finger protein 642 protein-coding 1350662 ZNF643 zinc finger protein 643 737633,1580863 15146197,15489334,14702039,12477932 737633 65243 CN256362,NM_023070,AL031985,CH471059,AK091612,AL137241,BC017498,CR611654 NP_075558,CAI19856,CAI19857,EAX07216,EAX07217,EAX07218,EAX07219,BAG52392,CAB70626,AAH17498,Q5QPL3,Q9UJL9,ABZ92050 Hs.133034 FLJ34293|RP11-656D10.1 novel zinc finger protein|zinc finger protein 643 protein-coding 1604575 ZNF644 zinc finger protein 644 16710414,15489334,15302935,14702039,12477932,11042152,10574462,20694148 84146 NM_032186,NM_201269,NM_016620,AL136109,CH471097,AB019255,AB033047,AF208847,AK001587,AK023596,AK024026,AK291520,BC031003,BC041138,BC050656,BC063683,BC092462,BC110841,BC132776,BC132778,BC150177,BI760689 NP_115562,NP_958357,NP_057704,CAI23362,CAI23363,EAW73118,BAD32777,BAA86535,AAF64261,BAA91773,BAB14618,BAB14785,BAF84209,AAH31003,AAH50656,AAH63683,AAH92462,AAI10842,AAI32777,AAI32779,AAI50178,Q569I6,Q8NEI6,Q9H582,Q9H835,Q9H8J8,Q9NVH8,Q9NZF0 Hs.173001 BM-005|KIAA1221|MGC60165|MGC70410|Zep-2 OTTHUMP00000011764|zinc finger motif enhancer binding protein 2|zinc finger motif enhancer-binding protein 2|zinc finger protein 644|zinc finger protein 644, isoform 2 protein-coding 1345445 ZNF645 zinc finger protein 645 1580863 18029348,15772651,15489334,14702039,12477932,20657603 158506 NG_021438,NM_152577,BX293560,CH471074,AK098601,BC074910,BC126190,BC126192,HC044859,GQ355336 NP_689790,CAI40652,EAW98989,BAC05348,AAH74910,AAI26191,AAI26193,Q8N7E2,CBH30759,ADR83166,ADR83306,ADI56589 Hs.132485 FLJ25735|HAKAIL E3 ubiquitin ligase|zinc finger protein 645 protein-coding 1351485 ZNF646 zinc finger protein 646 1580863 16189514,12477932,9205841 9726 NM_014699,AC135050,CH471192,AB002294,AK304808,BC035589 NP_055514,EAW52170,EAW52171,BAA20756,BAG65558,AAH35589,O15015 Hs.119273 KIAA0296 zinc finger protein 646 protein-coding 1606465 ZNF648 zinc finger protein 648 17081983,16710414,12477932 127665 NM_001009992,AL355482,AK128654,BC137223,BC137224 NP_001009992,CAI15305,AAI37224,AAI37225,Q5T619 Hs.684328 zinc finger protein 648 protein-coding 1606512 ZNF649 zinc finger protein 649 11230166,11076863,9373149,8125298,16381901,15950191,15489336,15489334,14702039,12477932,11256614,16344560 65251 AC011460,CH471135,AF086241,AK000909,AK022706,AK225480,AK315487,AL713677,BC005368,CR590368,NM_023074,DA782250 NP_075562,EAW72050,BAB14191,BAG37871,CAD28482,AAH05368,Q9BS31,CAL38213 Hs.148322 FLJ12644 zinc finger protein 649 protein-coding 1350374 ZNF65 zinc finger protein 65 1505991 7616 1350708 ZNF652 zinc finger protein 652 16966434,19430483,18456661,14702039,12477932,10231032,20204290,20414254,20542020,20852445,21045733 22834 NM_014897,NM_001145365,AC004797,AC091180,CH471109,AB023141,AK093834,AK292667,BC028045,BC034987,BC139779,BC152440,CR933680,DN998934 NP_055712,NP_001138837,EAW94682,EAW94683,BAA76768,BAF85356,AAI39780,AAI52441,CAI45974,Q9Y2D9 Hs.463375 DKFZp781E2122|KIAA0924 OTTHUMP00000220047|zinc finger protein 652 protein-coding 2301491 ZNF652P zinc finger protein 652 pseudogene 1740334 646592 NG_013223,AC099047 Q7M4M3 ZNF652P pseudo 1347968 ZNF653 zinc finger protein 653 737633,1580863 8889548,15489334,12920234,12477932 737633 115950 CB241280,CH471106,NM_138783,AC008481,AK131037,AK314986,AY072704,BC014187,BC016816 EAW84224,NP_620138,AAL66763,AAH14187,AAH16816,Q96CK0,ADR82777 Hs.465928 E430039K05Rik|ZIP67 67 kDa zinc finger protein|zinc finger protein 653|zinc finger protein Zip67 protein-coding 1345360 ZNF654 zinc finger protein 654 14702039 55279 NM_018293,AC119733,AC128650,CH471110,AF543494,AK001859,AK024795,AL357201 NP_060763,EAW68861,EAW68862,AAN40504,BAA91946,BAB15007,Q8IZM8,AAI48425,AAI53005 Hs.591650,Hs.661116 FLJ10997|FLJ21142 melanoma-associated antigen|zinc finger protein 654 protein-coding 1351627 ZNF655 zinc finger protein 655 This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] 15558030,16341674,16314882,16189514,15489334,14702039,12853948,12690205,12477932,11179890,9373149,8125298 79027 AK027114,AK054750,AK057245,AK098231,AK122929,AK128057,AK225976,AK304785,AK314593,AK316024,AY099353,BC000823,BC004288,BC007378,BC011816,BC024770,BC037407,BC063478,BE293580,BI548533,BI912391,CR591940,CR621628,CR749270,DN993232,BX490067,NM_001083956,NM_138494,NM_024061,NM_001085366,NM_001085368,NM_001009960,NM_001085367,NM_001009958,NG_000004,AC005020,CH236956,CH471091,BM829333 EAW76650,EAW76651,BAB71394,BAG53803,BAG54623,BAG65536,BAG37165,BAH14395,AAM33786,AAH00823,AAH04288,AAH07378,AAH11816,AAH24770,AAH37407,CAH18126,Q68DU4,Q8N720,Q96MB4,ABZ92053,NP_001077425,NP_612503,NP_076966,NP_001078835,NP_001078837,NP_001009960,NP_001078836,NP_001009958,AAS02017,EAL23870,EAL23871,EAW76648,EAW76649 Hs.599798 DKFZp686M1631|FLJ23461|MGC10859|MGC16203|MGC5521|VIK|VIK-1 OTTHUMP00000210242|OTTHUMP00000210245|OTTHUMP00000210251|OTTHUMP00000210254|OTTHUMP00000210255|OTTHUMP00000210256|vav-1 interacting Kruppel-like protein|vav-interacting Krueppel-like protein|zinc finger protein 655 protein-coding 1345425 ZNF658 zinc finger protein 658 16344560,15489334,15164053,14702039,12477932,11181995 26149 NM_033160,AL353770,BX664608,CH878355,AA657471,AI123536,AI308081,AK022636,AK024222,AK057375,AK292150,AL110217,BC031626,BX479383,DA120232,DA404383 NP_149350,CAM18525,CAH70029,EAW50476,BAB14145,BAG51273,BAB71457,BAF84839,CAB53677,AAH31626,Q5TYW1 Hs.522147 DKFZp572C163|FLJ32813|MGC35232 zinc finger protein 658 protein-coding 1603811 ZNF658B zinc finger protein 658B 15164053,14702039,12477932,8889548 401509 BU685875,NR_027861,AL590491,AL954139,AK095694,BC137089 AAI37090,Q4V348,BAC04610 Hs.449445,Hs.534812 MGC168709 pseudo 1353056 ZNF66 zinc finger protein 66 16344560,12477932,1946370,1505991,20379614 7617 NG_023377,AC010329,M88375 AAA61333,Q6ZN08 FLJ16537|MGC87430|ZNF66 zinc finger protein 66 pseudo 1346042 ZNF660 zinc finger protein 660 15489334,14702039,12477932 285349 AK094189,BC075094,BC075095,BX538171,NM_173658,AC099669,CH471055 BAC04303,AAH75094,AAH75095,CAD98047,Q6AZW8,NP_775929,EAW64713 Hs.646854 FLJ36870 OTTHUMP00000209719|OTTHUMP00000209720|zinc finger protein 660 protein-coding 1602806 ZNF662 zinc finger protein 662 14702039,12477932 389114 NM_207404,NM_001134656,AC092043,CH471055,AK054699,AK090666,AK090754,AK127779,AK128676,AK131235,AW117418,BC128085 NP_997287,NP_001128128,EAW64683,EAW64684,EAW64685,BAC87129,BAC87565,BAD18417,AAI28086,Q6ZS27 Hs.720173 FLJ33347|FLJ45880|MGC149141 zinc finger protein 662 protein-coding 4107144 ZNF663 zinc finger protein 663 11181995,12477932,15489334 100130934 BC100776,BC100777,CH471077,XR_078563,XR_078908,XR_079423,AL031686,AL831934,BC100775 CAD38590,EAW75737,Q8NDT4 Hs.712133 DKFZp547G0215|MGC118776 pseudo 1606961 ZNF664 zinc finger protein 664 16381901,15489336,14702039,12477932,11256614,11230166,11076863,8634327,19936222 144348 NM_152437,AC068790,CS300563,AK023009,AK056034,AL834266,BC017960,BC037793,BC051696,BC093848,BC101530,BX647762,CR607556,L41669,CH471054 NP_689650,EAW98441,EAW98442,EAW98443,EAW98444,EAW98445,EAW98446,CAK32227,BAG51609,CAD38941,AAH17960,AAH51696,AAH93848,AAI01531,CAH10567,AAC41997,Q0P6D9,Q8N3J9,CAL37684,ABZ92103 Hs.524828 DKFZp761B128|MGC126579|ZFOC1|ZNF176 zinc finger Organ of Corti 1|zinc finger protein 176|zinc finger protein 664|zinc finger protein ZFOC1|zinc finger protein from organ of Corti protein-coding 1605935 ZNF665 zinc finger protein 665 16344560,14702039 79788 NM_024733,AC092070,AK096261,AK291403,AL832507,DA696332 NP_079009,BAF84092,Q9H7R5 Hs.502355 FLJ14345|ZFP160L zinc finger protein 160-like|zinc finger protein 665 protein-coding 1603200 ZNF667 zinc finger protein 667 17397802,15489334,14702039,12477932,16344560,20379614 63934 NM_022103,AC006116,AC013256,AC098795,CH471135,AK024073,AK056508,AK096513,AK126957,BC074898,BC074899,BC136388,BC150593,BX647401,CR936605,AK127426,BX642001,CA428758,DA580285,NR_030740 NP_071386,AAF06067,EAW72453,EAW72454,BAG51734,AAH74898,AAH74899,AAI36389,AAI50594,CAI46040,CAI56751,Q5CZB4,Q5HYK9,Q9ULA1 Hs.676605 DKFZp686O111|FLJ14011|FLJ45518|MIPU1 myocardial ischemic preconditioning upregulated 1 ortholog|zinc finger protein 667 protein-coding 1605939 ZNF668 zinc finger protein 668 15489334,14702039,12477932,16344560 79759 NM_024706,AC135050,CH471192,AB209710,AK023541,AK027398,AK289899,AK315623,BC021997,BC047516,AK308239,DA450347,DC412389,NM_001172668,NM_001172669,NM_001172670 NP_078982,EAW52172,EAW52173,EAW52174,BAD92947,BAB14602,BAB55084,BAF82588,BAG37991,AAH21997,AAH47516,Q4G0L6,Q96K58,ABZ92059,NP_001166139,NP_001166140,NP_001166141 Hs.102928,Hs.707346 FLJ13479|FLJ14492 OTTHUMP00000045005|zinc finger protein 668 protein-coding 1605627 ZNF669 zinc finger protein 669 16710414,15489334,14702039,12477932 79862 NM_024804,NM_001142572,AL627095,AK022668,AK056020,BC015312,CA447495,CH471148 NP_079080,NP_001136044,CAH70015,CAH70017,CAH70018,BAB14166,BAG51606,AAH15312,Q96BR6,EAW77172,EAW77173 Hs.163754 FLJ12606 OTTHUMP00000038564|zinc finger protein 669 protein-coding 1603930 ZNF670 zinc finger protein 670 18029348,16710414,16189514,15592455,15489334,14702039,12477932,16344560 93474 NM_033213,AL512637,AL627095,CH471148,CQ783971,AK027325,AK074774,BC005360,BG532425,DA509721,DA757117 NP_149990,CAI15616,CAH70012,EAW77170,CAF86950,BAC11200,AAH05360,Q9BS34,ABZ92089 Hs.710279 FLJ12606|MGC12466 zinc finger protein 670 protein-coding 1602675 ZNF671 zinc finger protein 671 16344560,15489334,14702039,12477932,9373149 79891 NM_024833,AC003006,CH471135,AK027159,AK091421,AK225665,AK293680,BC025728,DB104548,AK310074 NP_079109,EAW72528,EAW72529,BAB15677,BAH11567,AAH25728,Q8TAW3,ABZ92062 Hs.180402 FLJ23506 zinc finger protein 671 protein-coding 1602674 ZNF672 zinc finger protein 672 15489334,14702039,12477932 79894 NM_024836,AL672291,CH471257,AK025954,AK027476,AK027679,AK298016,BC007385,BC008872,BC029310,BC035140,BC050348,BC068506 NP_079112,EAW57538,BAB15294,BAB55290,BAG60320,AAH07385,AAH08872,AAH35140,AAH50348,AAH68506,Q499Z4 Hs.521151 FLJ22301 OTTHUMP00000222433|OTTHUMP00000222434|OTTHUMP00000222435|OTTHUMP00000222436|zinc finger protein 672 protein-coding 1601992 ZNF673 zinc finger family member 673 16344560,15772651,15489334,14702039,12477932,11944989,16385466 55634 NM_001129899,NM_001129898,NM_001129900,NM_017776,AL139811,CH471164,CS185620,AK000351,AK096413,AK097159,AK289703,BC012569,CR602455,CR622119,DA152034,DA631861,DA877282,NG_022935 NP_001123371,NP_001123370,NP_001123372,NP_060246,CAI41301,CAI41302,EAW59261,EAW59262,EAW59263,CAJ42801,BAA91104,BAG53284,BAF82392,AAH12569,Q5JUW0 Hs.632800 FLJ20344|RP4-733D15.4 OTTHUMP00000023184|OTTHUMP00000216114|OTTHUMP00000216116|OTTHUMP00000216117|protein ZNF673|putative zinc finger transcription factor|zinc finger protein 673 protein-coding 1602785 ZNF674 zinc finger family member 674 16385466,16344560,11181995 641339 NM_001039891,NM_001146291,AL022165,AL031393,CH471164,AK295054,AK308986,AW173662,AY971607,BQ417100,BX648127,DA195605,NG_023376,DC317540,NM_001190417 NP_001034980,NP_001139763,EAW59264,EAW59265,EAW59266,BAG58103,AAY40800,Q2M3X9,AAI56258,AAI57039,NP_001177346 Hs.636105 DKFZp686H0940|MRX92|ZNF673B mental retardation, X-linked 92|zinc finger family member 674|zinc finger protein 674 protein-coding 1604218 ZNF675 zinc finger protein 675 11751921,11851921,16344560,15231748,14702039 171392 NM_138330,AC073544,CH471106,AB209601,AK093669,AK307845,AY044432,DA777369 NP_612203,EAW84944,EAW84945,BAD92838,BAC04216,AAK95822,Q59F60,Q8TD23,AAI56534,AAI72491 Hs.264345 FLJ36350|TBZF|TIZ TRAF6 inhibitory zinc finger|TRAF6-binding zinc finger protein|TRAF6-inhibitory zinc finger protein|zinc finger protein 675 protein-coding 1602290 ZNF676 zinc finger protein 676 20421499,14702039 163223 NM_001001411,AC073539,AK097798,BX281304 Q8N7Q3,NP_001001411,BAC05174 Hs.55452 zinc finger protein 676 protein-coding 1604169 ZNF677 zinc finger protein 677 15489334,12477932,18029348 342926 NM_182609,AC092070,CH471135,AK026366,AK308120,BC029855,BC050038,BX648243 NP_872415,EAW72124,AAH29855,AAH50038,Q05C29,Q86XU0,ABZ92161 Hs.20506 MGC48625 zinc finger protein 677 protein-coding 1603154 ZNF678 zinc finger protein 678 18391952,16710414,15489334,12477932,16344560,20379614,20846217,20546612 339500 NM_178549,AL451054,AL592310,CH471098,AB074269,AK026475,AK307248,AK311313,BC007286,BC042500,AI655010,CD655825,DA213851,NR_033184 NP_848644,CAH71932,CAI21826,EAW69812,EAW69813,AAH42500,Q5SXM1 Hs.30323 FLJ18355|FLJ22822|MGC15634|MGC42493 zinc finger protein 678 protein-coding 2305769 ZNF679 zinc finger protein 679 20379614,20339536,16189514,15489334,12477932 168417 NM_153363,AC073270,CH471204,BC033523 NP_699194,EAW77958,EAW77959,AAH33523,Q8IYX0 Hs.520884 MGC42415 OTTHUMP00000209952|zinc finger protein 679 protein-coding 1345229 ZNF67P zinc finger protein 67 pseudogene 1580863 1946370,1505991 7618 AC139769,NG_008024,M88376 AAA61334,Q15940 ZNF67 pseudo 1347814 ZNF68 zinc finger protein 68 7619 1604477 ZNF680 zinc finger protein 680 18029348,16344560,15489334,14702039,12477932,20379614,19913121,20628086 340252 NM_001130022,AC016769,CH471204,AK074911,AK122937,AK131240,BC030700,CR617028,DA669757,NM_178558 ACE86773,NP_848653,NP_001123494,EAW77966,EAW77967,EAW77968,EAW77969,EAW77970,EAW77971,BAC11286,BAG53806,BAD18422,AAH30700,Q6ZNF3,Q8NEM1,ACE87459 Hs.520886 FLJ90430 zinc finger protein 680 protein-coding 1606957 ZNF681 zinc finger protein 681 14702039,12477932,8889548 148213 NM_138286,AC073544,AC139769,CH471106,AK056088,AK122869,BC062216,BC082233,BC136346,BU726573,CR624679 EAW84948,NP_612143,EAW84947,EAW84949,BAB71090,BAG53769,AAI36347,Q96N22 Hs.187337,Hs.399952 FLJ31526 zinc finger protein 681 protein-coding 1603286 ZNF682 zinc finger protein 682 16344560,15057824,14702039,12477932 91120 NM_033196,NM_001077349,AC006539,CH471106,AK027845,AK074843,AK096571,AK098164,AK127015,BC136304,DA612976,DA788529,DB174863,DR002650 NP_149973,NP_001070817,AAD14470,AAD14471,AAD14472,EAW84868,EAW84869,EAW84870,BAB55408,BAC11238,BAG53326,BAG53584,AAI36305,O95778,O95779,O95780,Q8NCC0 Hs.306298 BC39498_3|FLJ90362 zinc finger protein 682 protein-coding 1601926 ZNF683 zinc finger protein 683 16710414,15489334,12477932 257101 NM_173574,NM_001114759,AL451139,CH471059,BC028731,BC029505,BI465178 NP_775845,NP_001108231,CAI15853,CAI15854,CAI15855,CAI15856,CAI15857,CAI15858,CAI15859,CAI15860,EAX07816,EAX07817,EAX07818,AAH28731,AAH29505,Q8IZ20,ABZ92126 Hs.353208 MGC33414|RP11-569G9.6 OTTHUMP00000003618|zinc finger protein 683 protein-coding 1601724 ZNF684 zinc finger protein 684 16710414,15489334,14702039,12477932 127396 NM_152373,AL356379,CH471059,AK094072,BC016016,BC091518,BC111463,BG116229 NP_689586,CAI22132,CAI22133,CAI22134,EAX07208,EAX07209,BAG52807,AAH91518,AAI11464,Q5T5D7,ABZ92097 Hs.524767 MGC27466 zinc finger protein 684 protein-coding 1606250 ZNF687 zinc finger protein 687 18029348,17081983,16710414,15489334,15302935,14702039,12477932,10718198,16964243 57592 CH471121,AB037862,AK023105,BC020245,BC032463,CR749307,AL391069,NM_020832 EAW53451,EAW53452,EAW53453,EAW53454,BAA92679,BAB14406,AAH32463,CAH18162,Q5VWB8,Q8N1G0,NP_065883,CAH70322,CAH70323,CAO72152 Hs.186756 DKFZp781I1719|KIAA1441|RP11-126K1.3 OTTHUMP00000014280|OTTHUMP00000014281|zinc finger protein 687 protein-coding 1602068 ZNF688 zinc finger protein 688 15489334,14702039,12477932,10493829,8889548 146542 NM_145271,NM_001024683,AC002310,CH471192,AF085979,AK122680,BC018997,BM011208,BQ188280 NP_660314,NP_001019854,EAW52233,EAW52234,EAW52235,EAW52236,BAG53663,AAH18997,P0C7X2,ABZ92106 Hs.301463 zinc finger protein 688 protein-coding 1603925 ZNF689 zinc finger protein 689 16568080,15489334,14702039,12477932 115509 NM_138447,AC093249,CH471192,CQ756574,CQ783987,AB065282,AF086510,AK074896,AK310459,AL834299,BC014000 NP_612456,EAW52228,CAF32597,CAF86958,BAB83744,BAC11275,CAH56363,AAH14000,Q25QX8,Q96CS4 Hs.454685 DKFZp762C173|FLJ90415|TIPUH1 transcription-involved protein upregulated in HCC 1|zinc finger protein 689 protein-coding 1348158 ZNF69 zinc finger protein 69 1580863 12477932,1639391 7620 NM_021915,AC008770,CH471106,X60076,AW132096,BC051309,CA437198 NP_068734,EAW84248,EAW84249,EAW84250,CAC16147,AAH51309,Q9UC07,ABZ92442 Hs.661955 Cos5|MGC59928 OTTHUMP00000209831|hZNF3|zinc finger protein 69 protein-coding 1603045 ZNF691 zinc finger protein 691 16710414,15489334,14702039,12477932,9110174,8619474,16169070 51058 NM_015911,AL512353,CH471059,AF131739,AK000938,AK296201,BC000157,CR457146 NP_056995,CAH72717,CAH72719,CAH72720,EAX07127,AAD20028,BAA91434,BAG58929,AAH00157,CAG33427,Q5VV50,Q5VV52,ABZ92328,CAH72718,EAX07128 Hs.20879 RP11-342M1.5|Zfp691 OTTHUMP00000008920|OTTHUMP00000008922|zinc finger protein 691 protein-coding 1604343 ZNF692 zinc finger protein 692 17097062,16710414,15489334,14702039,12477932,9373149,8125298,16344560 55657 AF256175,NM_017865,NM_001136036,AL672291,CH471257,AB209706,AK000538,AK001070,AK225535,AK298899,AK302187,AL133100,BC002948,CR595121,CR604138,CR605596,CR625725,DA147512,DA319079,DA693598,DB520788,H07076,NM_001193328,AK309421 AAG15327,NP_060335,NP_001129508,CAI18799,CAI18800,CAI18801,EAW57539,EAW57540,EAW57541,EAW57542,BAD92943,BAA91239,BAA91490,BAG61010,BAG63552,CAB61410,AAH02948,Q59EV5,Q9BU19,NP_001180257 Hs.377705 AREBP|FLJ20531|Zfp692 AICAR responsive element binding protein|OTTHUMP00000038243|OTTHUMP00000038244|zinc finger protein 692 protein-coding 1603629 ZNF695 zinc finger protein 695 16710414,15489334,12477932 57116 NM_020394,AC113174,AL512637,AK126366,BC023527,BC041082,BC055096,CA441360,CR597038 ADR82705,NP_065127,CAI15612,BAG54313,AAH41082,Q8IW36,ABZ92358 Hs.669893 MGC61907|RP11-551G24.1|SBZF3 OTTHUMP00000038468|zinc finger protein 695|zinc finger protein SBZF3 protein-coding 1605338 ZNF696 zinc finger protein 696 14702039,11181995,12477932 79943 NM_030895,AC138696,CH471162,AK024191,BC126317 NP_112157,EAW82267,EAW82270,BAB14850,AAI26318,Q9H7X3 Hs.512740 FLJ14129 zinc finger protein 696 protein-coding 1603938 ZNF697 zinc finger protein 697 12477932 90874 NM_001080470,AL109966,AK027019,AK311787,BC007260,BC033126,BC063670 NP_001073939,CAI21950,BAG34730,AAH07260,AAH33126,Q5TEC3,Q8N508 Hs.381105,Hs.711175 MGC45731 zinc finger protein 697 protein-coding 1605799 ZNF699 zinc finger protein 699 16940975,15489334,14702039,12477932 374879 NM_198535,AC011451,AK095463,BC109267,BC109268 NP_940937,BAC04552,AAI09268,AAI09269,Q32M78 Hs.633842 FLJ38144|MGC129880|MGC129881|hang hangover homolog|hangover, Drosophila, homolog of|zinc finger protein 699 protein-coding 1321655 ZNF7 zinc finger protein 7 1580863 2106481,15489334,14702039,12477932,10520746,9268371,9155018,2288909,1946370,16169070,19795399 7553 AF235103,CH471162,M77170,AB209619,AF027146,AK096025,AK308002,AK313745,BC058923,BQ020963,BX647998,CR625704,DC301751,M29580,U71599,X52335,NM_003416,AK300001,AK301561 NP_003407,EAW82038,EAW82039,EAW82040,EAW82041,EAW82042,AAA36813,BAD92856,AAB84025,BAC04677,BAG36485,AAH58923,AAA61313,AAB16811,CAA36561,O14891,P17097,Q59F42,Q7KZ25,Q8N8Y4,Q92970,ABZ92245,BAG61820,BAG63056 Hs.493218 FLJ38706|HF.16|KOX4|zf30 C2-H2 type zinc finger protein|Zinc finger protein-7 (KOX4)|zinc finger protein 7|zinc finger protein 7 (KOX 4, clone HF.16)|zinc finger protein 7 (kox 4, clone hf.16)|zinc finger protein HF.16|zinc finger protein KOX4|zinc finger protein zfp30 protein-coding 1351626 ZNF70 zinc finger protein 70 1580863 15489334,15461802,12477932,1639391,14702039 7621 BC040161,CR456615,NM_021916,AB050771,AP000348,CH471095,X60077,AK122721 AAH40161,CAG30501,Q9UC06,CAK54649,CAK54948,ABZ92443,NP_068735,BAB83033,EAW59597,CAC16148,BAG53688 Hs.382874 Cos17|MGC48959 zinc finger protein 70|zinc finger protein N27C7-1 protein-coding 1604763 ZNF700 zinc finger protein 700 12477932,11230166 90592 NM_144566,AC008770,CH471106,AK126871,AK308305,AL136732,BC111557,BC136777,BC144406 NP_653167,EAW84251,CAB66666,AAI36778,Q9H0M5 Hs.528486 DKFZp434I1610 zinc finger protein 700 protein-coding 1603988 ZNF701 zinc finger protein 701 18029348,15489334,14702039,12477932 55762 NM_018260,AC022150,CH471135,AK001753,BC054884,BC067346,BC080612,BC131719,BC136425,BC136426,NM_001172655 NP_060730,EAW72085,EAW72086,BAA91884,AAH54884,AAH67346,AAH80612,AAI31720,AAI36426,AAI36427,Q6NWZ7,Q7Z2U6,Q9NV72,NP_001166126 Hs.235167 FLJ10891 zinc finger protein 701 protein-coding 1605331 ZNF702P zinc finger protein 702 pseudogene 14702039,12477932 79986 NR_003578,AC010328,AK023047,AK092593,AL832505,BC032590 BAG52576,Q9H963 Hs.714428 FLJ12985|ZNF702 pseudo 1602208 ZNF703 zinc finger protein 703 19330026,15897872,15489334,14702039,12477932 80139 NM_025069,AC137579,CH471080,AK024361,BC032534,BC084581 NP_079345,EAW63370,BAB14897,AAH32534,AAH84581,Q9H7S9 Hs.726062 FLJ14299|ZNF503L zinc finger protein 703 protein-coding 1605749 ZNF704 zinc finger protein 704 8889548,12477932 619279 BC004287,BM683148,BX112159,NM_001033723,AC022598,AC024367,CH471068,AK131274,BC017966,BC136844,BC136845 NP_001028895,EAW87083,BAD18451,AAI36845,AAI36846,Q6ZNC4 Hs.434957 FLJ16218|Gig1|MGC10858 zinc finger protein 704 protein-coding 1605174 ZNF705A zinc finger protein 705A 14702039 440077 NM_001004328,AC092111,CH471116 NP_001004328,EAW88624,Q6ZN79 Hs.438536 FLJ16353 zinc finger protein 705A protein-coding 1605166 ZNF705B zinc finger protein 705B 441330 XM_933421,XM_496959 XP_938514,XP_496959 protein-coding 1604442 ZNF705CP zinc finger protein 705C pseudogene 12477932 389631 NG_005518,AC087203,AC144830 MGC131746|ZNF705C|ZNF705CP pseudo 2299010 ZNF705D zinc finger protein 705D 14702039,12477932 728957 NM_001039615,AC130366,BC110823 P0CH99,NP_001034704,AAI10824 Hs.652228 MGC131746|ZNF705C putative zinc finger protein 705C|zinc finger protein 705C|zinc finger protein 705D protein-coding 2311724 ZNF705G zinc finger protein 705G 16421571 100131980 NM_001164457,AC130360,BE466749,BF509407 NP_001157929,A8MUZ8 Hs.528391 putative zinc finger protein 705G|zinc finger protein 705G-like protein-coding 1602889 ZNF706 zinc finger protein 706 15489334,14702039,12477932,11042152,21107309 51123 BG704587,BI755311,DB549532,NM_001042511,NM_016096,NM_001042510,AP001330,AP003469,CH471060,AF125099,AF275802,AF275809,AK027802,AK129859,AK290477,AV721205,BC015925,BC035233,BC068524 Q9HB72,Q9Y5V0,ABZ92329,NP_001035976,NP_057180,NP_001035975,EAW91831,EAW91832,AAD39916,AAG23816,AAG23820,BAF83166,AAH15925,AAH68524 Hs.374485 HSPC038|PNAS-106|PNAS-113 zinc finger protein 706 protein-coding 1603343 ZNF707 zinc finger protein 707 17207965,16344560,16189514,15489335,15489334,14702039,12477932,19447967 286075 NM_173831,NM_001100598,NM_001100599,AC105219,CH471162,AK001126,AK055198,AK055263,AK095138,AK290432,AW294133,BC014894,CV023324,DA007942,DA917297,DB249556 ADQ32720,NP_776192,NP_001094068,NP_001094069,EAW82210,EAW82211,EAW82212,EAW82213,EAW82214,BAG51493,BAF83121,AAH14894,Q96C28,ACE87328,ACE86646 Hs.521922 zinc finger protein 707 protein-coding 1342692 ZNF708 zinc finger protein 708 1580863 14702039,7486829,2288909,2014798 7562 NM_021269,AC022432,CH471106,AK128184,AK131527,AK311130,BC039403,BX647526,X52339 NP_067092,EAW84891,EAW84892,BAD18665,CAA36565,P17019,AAI72244,AAI72551 Hs.466296 DKFZp686L10267|FLJ16755|FLJ46310|KOX8|ZNF15|ZNF15L1 zinc finger protein 15|zinc finger protein 15-like 1 (KOX 8)|zinc finger protein 15-like 1 (kox 8)|zinc finger protein 708|zinc finger protein KOX8 protein-coding 1605565 ZNF709 zinc finger protein 709 16344560,14702039,12477932,16737952 163051 NM_152601,AC008758,CH471106,AK290911,BC036481,BC038531,BC136746,BC136751,BQ027911,BX954970,DA493682,DB443167 NP_689814,EAW84275,EAW84276,BAF83600,AAI36747,AAI36752,Q8N972 Hs.631623 FLJ38281 OTTHUMP00000209837|OTTHUMP00000221688|zinc finger protein 709 protein-coding 1343724 ZNF71 zinc finger protein 71 1580863 15489334,15342556,15057824,14702039,12477932,11426589,1946370,1639391,1505991,18029348,20734064 58491 NM_021216,AC007228,CH471135,M88357,X60074,AF269249,AK057019,AL137486,BC014280,BP377051,CR601440 NP_067039,AAD23608,EAW72467,EAW72468,AAA61315,CAC16174,AAF88036,AAH14280,Q9NQZ8 Hs.301431,Hs.600391 EZFIT Kruppel-related zinc finger protein|endothelial zinc finger protein induced by tumor necrosis factor alpha protein-coding 1606391 ZNF710 zinc finger protein 710 15489334,14702039,12477932,8889548 374655 NM_198526,AC087284,AK094712,AK160373,AL831826,BC020301,BC126476,BC130541,BM973240 NP_940928,BAC04404,BAD18716,CAD38540,AAI26477,AAI30542,Q8N1W2 Hs.459311 DKFZp547K1113|FLJ00306|FLJ37393|MGC163413 zinc finger protein 710 protein-coding 1347410 ZNF711 zinc finger protein 711 This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with mental retardation. [provided by RefSeq] 1580863 15489334,16344560,15772651,12477932,9491611,8733041,1923752,20346720 7552 NM_021998,NG_012535,AC003001,CH471104,AK294953,AK299604,AK299933,AK308097,AY726603,BC006349,BC067294,BX648117,DB074057 NP_068838,EAW98563,EAW98564,EAW98565,EAW98566,BAG58028,BAG61535,BAG61766,AAH06349,AAH67294,Q6PK66,Q9Y462 Hs.326801 CMPX1|ZNF4|ZNF5|ZNF6|Zfp711|dJ75N13.1 OTTHUMP00000023624|OTTHUMP00000207244|dJ75N13.1 (znf6-like)|zinc finger protein 6 (CMPX1)|zinc finger protein 6 (cmpx1)|zinc finger protein 711 protein-coding 1605220 ZNF713 zinc finger protein 713 14702039,12477932,11181995 349075 NM_182633,AC092579,AC092647,CH471140,AK097282,BC094796 NP_872439,EAX07962,EAX07964,BAC04991,Q8N859,AAI46400,AAI48833 Hs.660834 FLJ39963 zinc finger protein 713 protein-coding 1606958 ZNF714 zinc finger protein 714 16341674,14702039,12477932,16344560 148206 NM_182515,AC010620,AC012627,CH471106,AK056006,AK090987,AK125662,BC022527,BC037782,BC050468,BC064985,BM788748,DB028091 NP_872321,EAW84885,EAW84886,EAW84887,BAB71072,AAH37782,AAH50468,Q96N38 Hs.466291 DKFZp547O168|FLJ33668|FLJ43674 zinc finger protein 714 protein-coding 1602613 ZNF716 zinc finger protein 716 14702039,12853948 441234 NM_001159279,AC073057,AC092175,AK131575 NP_001152751,A6NP11 Hs.533121 FLJ46189 OTTHUMP00000210411|zinc finger protein 716 protein-coding 1606870 ZNF717 zinc finger protein 717 16641997,16344560,14702039,12477932 100131827 NM_001128223,AC108724,AC133123,AF226994,AK123776,DB079386,DB491038,DR006008 NP_001121695,AAK28319,Q9BY31 Hs.556877 FLJ41782|X17 OTTHUMP00000213789|OTTHUMP00000213790|OTTHUMP00000213792|krueppel-like factor X17|kruppel-like zinc finger factor X17|zinc finger protein 717 protein-coding 1605256 ZNF718 zinc finger protein 718 14702039,15489334,12477932,20080650 255403 NM_001039127,AC118278,CH471131,AK074517,AK096662,AL833758,BC020836,BC047874,BC052600,BC104026,BC104027,BC104028,BC104029,BC154406 NP_001034216,EAW82674,BAC11034,CAH56238,AAH52600,AAI04027,AAI04028,AAI04029,AAI04030,AAI54407,Q3SXZ3,Q658L4,Q7Z7K8,Q8N2R1 Hs.724954,Hs.725286 FLJ90036 zinc finger protein 718 protein-coding 1346249 ZNF72 zinc finger protein 72 1580863 1639391 7623 X60078 CAC16145,Q9UC05 Cos8 zinc finger protein 72 protein-coding 2299178 ZNF720 zinc finger protein 720 12477932,8889548,16344560 124411 NM_001130913,AC002519,AC074050,CH471192,AK128671,AL832197,BC018134,BC055408,BU742282,CR611323,DA376736 NP_001124385,EAW52108,EAW52109,EAW52110,AAH18134,AAH55408,Q7Z2F6 Hs.528826 MGC62019|MGC9313 putative protein ZNF720 protein-coding 2301487 ZNF720P1 zinc finger protein 720 pseudogene 1 342426 NG_008699,AC106730 pseudo 1602425 ZNF721 zinc finger protein 721 16344560,14702039,11853319 170960 NM_133474,AC092574,AB075862,AK092362,AK095558,AK095689,AK127067,AK128499,AL834155,DA309597,AK021514 NP_597731,BAB85568,CAH10687,Q8TF20 Hs.428360,Hs.724168 FLJ11452|KIAA1982 OTTHUMP00000216854|zinc finger protein 721 protein-coding 1601665 ZNF723 zinc finger protein 723 15869325 724097 DQ048837 zinc finger protein 723 protein-coding 1601785 ZNF724P zinc finger protein 724 pseudogene 440519 AC092329,AK301230,XR_109586,XR_111843,XR_115255,DC372621 BAG62802,A8MTY0 Hs.675814 pseudo 1603876 ZNF725 zinc finger protein 725 15057824 100128853 NG_011783,AC011493,AC074140,CH471106 EAW84942,A8MSQ6 pseudo 1601664 ZNF726 zinc finger protein 726 15869325,12477932 730087 BE783649,BX475164,NM_001190829,AC011503,DQ036016,BC046415 NP_001177758,AAH46415,A6NNF4 Hs.655305 zinc finger protein 726 protein-coding 2301494 ZNF727 zinc finger protein 727 16344560,12853948,9847074 442319 NM_001159522,AC115220,CH471204,DA235663 NP_001152994,EAW77955,A8MUV8 Hs.640774 putative zinc finger protein 727 protein-coding 1603326 ZNF728 zinc finger protein 728 14702039 724100 AK056585 Hs.456399 protein-coding 1350696 ZNF73 zinc finger protein 73 1580863 9337403,1639391 7624 X60075,Y10929 CAC16146,CAA71860,O43830 Cos12|ZNF186|hZNF2 zinc finger protein 186|zinc finger protein 73 protein-coding 2293897 ZNF730 zinc finger protein 730 100129543 XM_001715065,XM_001718960,AC092329,AC124856,AK131472,XM_001719792,CH471106 XP_001715117,XP_001719012,BAD18617,Q6ZMV8,XP_001719844,EAW84934 Hs.720743 zinc finger protein 730 protein-coding 2311726 ZNF732 zinc finger protein 732 11181995 654254 NM_001137608,AC079140,CH471131,AK302099 NP_001131080,EAW82672,BAG63481,B4DXR9 Hs.698668 FLJ59067 zinc finger protein 732|zinc finger protein LOC654254 protein-coding 1626257 ZNF735 zinc finger protein 735 12853948,20379614 730291 NM_001159524,AC073270,AC104094 NP_001152996,P0CB33 Hs.723116 putative zinc finger protein 735 protein-coding 3378506 ZNF736 zinc finger protein 736 12477932,16344560 728927 AC073270,AK301806,BC031335,BX955073,CH471204,DB048979,NM_001170905 B4DX44,BAG63256,NP_001164376,EAW77963 Hs.535881 DKFZp781H0161 KRAB-containing zinc-finger repressor protein|zinc finger protein 736 protein-coding 4110550 ZNF736P10Y zinc finger protein 736 pseudogene 10, Y-linked 100419727 AC025731,NG_024764 pseudo 4110546 ZNF736P11Y zinc finger protein 736 pseudogene 11, Y-linked 100419730 AC006366,NG_024779 pseudo 4110545 ZNF736P12Y zinc finger protein 736 pseudogene 12, Y-linked 100419731 AC016698,NG_024785 pseudo 3277907 ZNF736P1Y zinc finger protein 736 pseudogene 1, Y-linked 442486 AC006338,NG_004755 ZNF736P1|ZNF736PY1 pseudo 3437022 ZNF736P2Y zinc finger protein 736 pseudogene 2, Y-linked 392603 AC025735,NG_004755 ZNF736P2|ZNF736PY2 pseudo 4110544 ZNF736P6Y zinc finger protein 736 pseudogene 6, Y-linked 100419732 AC025731,NG_024791 pseudo 4110548 ZNF736P7Y zinc finger protein 736 pseudogene 7, Y-linked 100419725 AC010902,NG_024762 pseudo 4110549 ZNF736P8Y zinc finger protein 736 pseudogene 8, Y-linked 100419724 AC010678,NG_024761 pseudo 4110547 ZNF736P9Y zinc finger protein 736 pseudogene 9, Y-linked 100419726 NG_024763,AC010902,AC016749 pseudo 1625854 ZNF737 zinc finger protein 737 15489334,12477932,11181995,8467795,16344560 100129842 NM_001159293,AC008554,AC010636,AF044026,CH471106,AI857360,BC015765,DA043454 NP_001152765,AAC25694,EAW84877,O75373 Hs.515696 ZNF102 zinc finger protein 102 (Y3)|zinc finger protein 737 protein-coding 2304144 ZNF738 zinc finger protein 738 15489334,14702039,12477932 148203 NR_027130,AC010615,AC022432,AA831708,AK027579,AK291002,AK291193,BC034499 BAG51352,BAF83691,BAF83882,Q8NE65 Hs.124384 pseudo 1353341 ZNF74 zinc finger protein 74 1580863 18029348,1639391,16344560,15461802,12684500,12477932,11705709,11313019,10591208,10585771,9346935,8663113,8268910 7625 BC048295,BC056902,CR456616,CR594912,CR601515,DA576206,X71623,X92715,NR_003253,AC007731,AF072567,CH471176,X63182,AB209663,AK128267,AK291358,AK299569,BC013395,BC013741,NM_003426 AAH48295,CAG30502,CAA50632,CAA63379,Q05BG0,Q16587,Q59EZ8,CAK54640,CAK54939,NP_003417,AAF21777,AAF21778,AAF21779,AAF21780,EAX02967,EAX02968,EAX02969,EAX02970,CAC16149,BAD92900,BAF84047,BAH13068,AAH13395 Hs.517418 Cos52|ZNF520|Zfp520 OTTHUMP00000199826|hZNF7|zinc finger protein 520|zinc finger protein 74 protein-coding 1603524 ZNF740 zinc finger protein 740 16964243,15489334,14702039,12477932,18482256 283337 NM_001004304,AC021072,AC068889,AC073573,AC073611,AJ316575,CH471054,AF086252,AK091946,AK292744,BC053557,CR592931 NP_001004304,CAC86954,EAW96673,EAW96674,BAF85433,AAH53557,Q8NDX6 Hs.524458 MGC61706|Zfp740 oriLyt TD-element-binding protein 7|zinc finger protein 740 protein-coding 1626267 ZNF742 zinc finger protein 742 730008 XM_001132067 XP_001132067 Hs.675378 protein-coding 1606138 ZNF746 zinc finger protein 746 15489334,14702039,12477932,19451621 155061 NM_152557,NM_001163474,AC004932,AC073314,CH471146,AI991498,AK055975,AK128244,AK291814,BC031968,BC035586,BC068505,BM512385,CR592744 Q6NUN9,Q6ZRF9,Q96N48,NP_689770,NP_001156946,EAW80042,EAW80043,BAB71061,BAC87351,BAF84503,AAH68505 Hs.24643 FLJ31413 zinc finger protein 746 protein-coding 1602103 ZNF747 zinc finger protein 747 14702039,12477932,10493829 65988 AB209546,AK054567,AK292192,BC001361,NM_023931,AC002310,CH471192 EAW52240,BAD92783,BAB70760,BAF84881,AAH01361,Q9BV97,NP_076420,EAW52239 Hs.592032 MGC2474 KRAB domain-containing protein ZNF747 protein-coding 1603829 ZNF749 zinc finger protein 749 17567985,16344560,15057824,14702039 388567 NM_001023561,AC004076,AK122740,AK122794,BP872084,DB099619 NP_001018855,AAB97932,O43361 Hs.695781 FLJ16263|FLJ16360 zinc finger protein 749 protein-coding 1602862 ZNF750 zinc finger protein 750 This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq] 18256691,16751772,16344560,15489334,14702039,12477932 79755 NM_024702,NG_011604,AC068584,CH471099,AI539029,AK023903,BC109036,BC109037,CO245511,DA433713,DA872185,AK301690 NP_078978,EAW89824,BAB14718,AAI09037,AAI09038,Q32MQ0,BAG63162 Hs.653124,Hs.464391 FLJ13841|FLJ51362|MGC125667|MGC125668|ZFP750|Zfp750 protein ZNF750 protein-coding 1346975 ZNF75A zinc finger protein 75a 1580863 16344560,15489334,14702039,12477932,8661144,18029348 7627 AC025283,CH471112,X91826,AK056091,AK093979,BC119652,BC119653,CR749782,DB249528,NM_153028,AC004232,BC039601,BC051366,BC150306 EAW85374,EAW85375,EAW85376,EAW85377,CAA62935,BAB71092,AAI19653,AAI19654,CAH18648,Q68CU0,Q96N20,NP_694573,AAH51366 Hs.513292 FLJ31529|MGC59959 zinc finger protein 75A protein-coding 1350509 ZNF75B zinc finger protein 75B pseudogene 8661144 7628 NG_001214,AC024934,AC076972,X91827 ZNF75B pseudo 1348414 ZNF75C zinc finger protein 75C pseudogene 1580863 8661144,16554811 729944 NG_008023,X91828,AP003086 CAA62937,Q92670 ZNF75C pseudo 1345365 ZNF75D zinc finger protein 75D 1580863 16344560,18029348,8661144,8288223,14702039,12477932,1505955 7626 AL450472,AL590282,CH471107,S43109,X68010,AK091687,AK092347,AK290215,AL831984,AL832801,BC029787,BC109100,CR624208,S67970,NM_007131,DA412890,NG_021412,NM_001185063 NP_009062,EAX11730,EAX11731,AAB22971,CAA48147,BAG52399,BAG52535,BAF82904,CAD89900,CAI46130,AAI09101,AAB29696,CAQ08421,CAQ08422,NP_001171992,P51815,Q86TD5,ABZ92251 Hs.722192,Hs.533540 D8C6|MGC126327|ZNF75|ZNF82 zinc finger protein 75|zinc finger protein 75D|zinc finger protein 82 protein-coding 1314742 ZNF76 zinc finger protein 76 (expressed in testis) 1580863 9705341,18391951,16522640,16337145,15489334,15280358,15231748,12477932,1427894,19423540,20406964,20438785,20546612 7629 NM_003427,CH471081,Z97832,AB208784,AK294605,AK295276,AK302903,AK310877,BC000133,BC002549,BT007316,CR614742,M91592 NP_003418,EAX03814,EAX03815,EAX03816,EAX03817,EAX03818,EAX03819,EAX03820,CAI20189,BAD92021,BAG57792,BAG58260,BAH13837,AAH00133,AAH02549,AAP35980,AAA98739,P36508,Q59HH4,Q5R3B9 Hs.388024 D6S229E|ZNF523|Zfp523 OTTHUMP00000215521|zinc finger protein 523|zinc finger protein 76 protein-coding 1603831 ZNF761 zinc finger protein 761 16344560,14702039,12477932,8889548 388561 NM_001008401,AC022137,AB107355,AK092652,AK131281,BC071639,BC103708,BM977910,DA237674 NP_001008401,BAD18456,AAH71639,Q6IQ01,Q86XN6,BAC67660 Hs.433293 FLJ16231|FLJ35333|KIAA2033|MGC87789|ZNF468 zinc finger protein 468|zinc finger protein 761 protein-coding 1604484 ZNF763 zinc finger protein 763 14702039,12477932,1946370,1505991 284390 NM_001012753,AC008770,CH471106,M88364,AK092240,AK299182,AK299224,BC105711,BC105712,BC105713 NP_001012771,EAW84252,AAA61322,BAG52505,BAG61227,BAG61259,AAI05712,AAI05713,AAI05714,Q0D2J5,Q15926 Hs.646386 ZNF|ZNF440L DNA-binding protein|OTTHUMP00000209875|zinc finger protein 440 like|zinc finger protein 763 protein-coding 1606477 ZNF764 zinc finger protein 764 16189514,15489334,14702039,12477932 92595 NM_033410,AC002310,CH471192,AK093992,BC000016,BC008821,BF725095,NM_001172679 NP_219363,EAW52237,EAW52238,BAG52794,AAH00016,AAH08821,Q96H86,ABZ92086,NP_001166150 Hs.132227 MGC13138 zinc finger protein 764 protein-coding 1602446 ZNF765 zinc finger protein 765 12477932,20379614 91661 NM_001040185,AC022137,CH471135,AK293890,AK295840,AK316300,BC001610,BC017357,BC140724,BX647981,CD656338 NP_001035275,EAW72134,EAW72135,BAG57279,BAG58650,BAH14671,AAI40725,Q7L2R6,ABZ92083 Hs.720797 DKFZp686J2252 zinc finger protein 765 protein-coding 1605317 ZNF766 zinc finger protein 766 14702039,12477932 90321 NM_001010851,AC010320,CH471135,AK022545,AK024074,AK024268,AK097729,BC109201,BC136833,BC136834,BX538183,BX648899 NP_001010851,EAW72067,EAW72068,EAW72069,BAG53522,AAI09202,AAI36834,AAI36835,CAD98055,CAI45991,Q08EK0,Q5HY98,ACE87633,ACE86945 Hs.439662 zinc finger protein 766 protein-coding 1605335 ZNF767 zinc finger family member 767 16344560,15489334,14702039,12975309,12853948,12477932,9847074,20379614 79970 NR_027788,NR_027789,AACC02000041,AC004932,CH471146,AK022762,AK124860,AK295771,AY359125,BC047675,DA249066,DA418417,DC295958 EAL24433,AAQ96876,EAW80038,EAW80039,EAW80040,BAB14233,BAH12184,AAQ89482,AAH47675,Q6UVX0,Q75MW2 Hs.520785 FLJ12700|FLJ42870|MGC51818 pseudo 1605951 ZNF768 zinc finger protein 768 15302935,12477932,12107411 79724 NM_024671,AC002310,CH471192,AK027089,AK315449,BC013760,BC092403,BQ635980,CA423836,CR615704 NP_078947,EAW52241,EAW52242,BAB15652,BAG37837,AAH13760,AAH92403,Q9H5H4 Hs.85658 FLJ23436 zinc finger protein 768 protein-coding 1346753 ZNF77 zinc finger protein 77 1580863 18029348,16344560,15489334,12477932,8478004,17207965 58492 NM_021217,AC006277,AC011559,CH471139,AK290979,AL365370,AW450750,BC043354,BC062561,DB104618,X65230 NP_067040,EAW69354,BAF83668,CAB96946,AAH43354,AAH62561,CAA46337,Q15935,ADQ32082 Hs.38004 pT1 ZNFpT1|zinc finger protein 77 protein-coding 1606270 ZNF770 zinc finger protein 770 15489334,14702039,12477932,16344560,19615732 54989 AI031776,DA331762,AC114546,CH471125,AI421027,AI890305,AK000589,AK127201,AK131433,AK291438,BC005188,BC035308,BC071603,BM454360,BQ921117,CD704851,CR612792,NM_014106 Q9UHS9,NP_054825,EAW92323,EAW92324,BAA91274,BAD18579,BAF84127,AAH71603,Q6IQ21 Hs.726281 FLJ20582|PRO1914 zinc finger protein 770 protein-coding 1605390 ZNF771 zinc finger protein 771 15489334,12477932 51333 NM_016643,NM_001142305,AC116348,CS300734,AF242768,AK313930,BC011870,BC026192,BI599970 NP_001135777,CAK32398,AAF65445,BAG36650,AAH11870,AAH26192,Q7L3S4,NP_057727 Hs.148584 DSC43 mesenchymal stem cell protein DSC43|zinc finger protein 771 protein-coding 1606077 ZNF772 zinc finger protein 772 12477932 400720 NM_001144068,NM_001024596,AC003005,AC004076,AK293825,AK294941,AK301562,AK302574,BC150292,BX647068,CR749225 NP_001137540,NP_001019767,BAG57229,BAG58017,BAG63057,BAG63832,CAH18081,Q68DY9,AAI60024 Hs.388810 DKFZp686I1569 zinc finger protein 772 protein-coding 1605527 ZNF773 zinc finger protein 773 18029348,14702039,12477932 374928 NM_198542,AC003005,CH471135,AK057209,AK160372,BC005167,CR606221 NP_940944,EAW72507,EAW72508,BAB71382,BAD18715,AAH05167,Q6PK81,Q6ZML0,ABZ92474 Hs.579576 FLJ00301|MGC4728|ZNF419B zinc finger protein 419B|zinc finger protein 773 protein-coding 1606399 ZNF774 zinc finger protein 774 16344560,15489334,12477932,17207965 342132 CR749343,DA017564,NM_001004309,AC018946,AK289385,BC067279 AAH67279,CAH18196,Q68DM4,Q6NX45,ADQ32667,NP_001004309,BAF82074 Hs.55307 MGC75360 zinc finger protein 774 protein-coding 1603510 ZNF775 zinc finger protein 775 17081983,15489334,12477932 285971 NM_173680,AC005586,AC073111,CH471173,AW402889,BC015152,BC038111,DB472309 NP_775951,EAW54116,AAH15152,Q96BV0 Hs.655734 MGC33584 OTTHUMP00000212795|OTTHUMP00000212796|zinc finger protein 775 protein-coding 1602053 ZNF776 zinc finger protein 776 19913121,20628086,14702039,12477932 284309 NM_173632,AC003006,CH471135,AK095607,AK127764,AK299680,BC136752,BC136753,BX957217,CR749390,CR936802,AI446541 NP_775903,EAW72530,EAW72531,EAW72532,BAC04588,BAC87119,BAG61588,AAI36753,AAI36754,CAH18239,Q68DI1 Hs.720254 DKFZp686K10134|DKFZp781G1213|FLJ38288 zinc finger protein 776 protein-coding 1604021 ZNF777 zinc finger protein 777 18029348,12477932,10574462 27153 NM_015694,AACC02000041,AC073314,CH471146,CQ783020,AB033111,AK074515,AK075032,BC023985,BC105968,BX444270,DR763452 NP_056509,EAL24432,EAW80044,CAF86227,BAA86599,BAC11033,BAC11364,AAH23985,AAI05969,Q3KR11,Q8N2J5,Q9ULD5 Hs.38512 KIAA1285 zinc finger protein 777 protein-coding 1604215 ZNF778 zinc finger protein 778 16344560,15489334,14702039,12477932,19920853,11181995 197320 NM_182531,AC009113,AK056437,BC015872,BC125192,BC143524,DA297948,CH471184,DC324714,DR001516,NM_001201407,NR_037705 NP_872337,BAB71183,AAH15872,AAI25193,Q96MU6,EAW66738,NP_001188336 Hs.647385 FLJ31875|MGC150573 zinc finger protein 778 protein-coding 1604491 ZNF780A zinc finger protein 780A 16344560,15057824,14702039,12477932,8889548 284323 DA436454,DA758840,DB097567,NM_001142579,NM_001142577,NM_001142578,NM_001010880,AC005614,CH471126,AI638558,AK091274,AK131328,AW243188,BC021982,BU685481 O75290,Q05CQ7,AAI56541,AAI72502,NP_001136051,NP_001136049,NP_001136050,NP_001010880,AAC34327,EAW56936,BAD18488,AAH21982 Hs.115140 ZNF780 zinc finger protein 780A protein-coding 1602429 ZNF780B zinc finger protein 780B 15057824,14702039,12477932 163131 AC005614,NM_001005851,AC007842,CH471126,AK122872,AK127063,BC136960,CB053507 NP_001005851,AAD39268,EAW56932,EAW56933,EAW56934,EAW56935,AAI36961,Q9Y6R6 Hs.101139 ZNF779 OTTHUMP00000207266|zinc finger protein 779|zinc finger protein 780B protein-coding 1605270 ZNF781 zinc finger protein 781 12477932,16344560 163115 NM_152605,AC093227,CH471126,AA778692,AK094868,AK097019,BC035681,BC108687,DA479602 BAC04927,NP_689818,EAW56746,EAW56747,AAI08688,Q8N8C0 Hs.116622 FLJ37549|MGC131783 zinc finger protein 781 protein-coding 1603891 ZNF782 zinc finger protein 782 18029348,19030899,14702039,12477932 158431 NM_001001662,AL158827,CH471174,AK131468,AK302460,BC137073,CR619806 NP_001001662,EAW92667,EAW92668,BAD18613,BAG63751,AAI37074,Q6ZMW2 Hs.592420 FLJ16636 OTTHUMP00000216169|OTTHUMP00000216170|zinc finger protein 782 protein-coding 1606139 ZNF783 zinc finger family member 783 14702039,12477932,11181995,9847074,9110174,8619474 155060 XM_001726770,XM_002342790,XM_002342791,XM_002344397,XM_002346055,AC004890,CH471146,AF035281,AK094035,AK095676,AK098351,AK303492,AK310396,AK310453,AK310680,AL832862,BC035824,NR_015357,NR_036573 XP_001726822,XP_002342831,XP_002342832,XP_002344438,XP_002346096,EAW80051,BAG64526 Hs.727521 DKFZp667J212|DKFZp762P2111|FLJ12914|FLJ16713|FLJ17438|FLJ17495|FLJ17722|FLJ25485|FLJ36716|FLJ38357|FLJ61016|MGC149135 OTTHUMP00000213758|OTTHUMP00000213761|protein ZNF783|zinc finger family member 783|zinc finger protein 783 pseudo 4140607 ZNF783 zinc finger family member 783 11181995,9847074,12477932,14702039,19413330 100289678 AC004890,AK022976,AL359620,BG029497,BX361979,CH471146,NM_001195220 EAW80049,NP_001182149,Q6ZMS7 Hs.490512,Hs.727521 DKFZp762P2111|FLJ12914|FLJ16713 OTTHUMP00000213757|protein ZNF783 protein-coding 1602066 ZNF784 zinc finger protein 784 15489334,14702039,12477932 147808 NM_203374,AC008735,CH471135,CQ782822,AF086055,AK074859,BC065822,CR604701,CR618267 NP_976308,EAW72395,EAW72396,EAW72397,CAF86050,BAC11251,AAH65822,Q8NCA9 Hs.53996 MGC75238 zinc finger protein 784 protein-coding 1602069 ZNF785 zinc finger protein 785 15489334,14702039,12477932,10493829,15146197 146540 NM_152458,AC002310,CH471192,AK056692,AK292465,AK298848,AK309511,BC040642,CN401082 NP_689671,AAC31673,EAW52229,EAW52230,EAW52231,EAW52232,BAB71256,BAF85154,BAG60973,AAH40642,A8K8V0,ABZ92105 Hs.513509 FLJ32130 OTTHUMP00000212926|zinc finger protein 785 protein-coding 1604748 ZNF786 zinc finger protein 786 16381901,16344560,15489336,12477932,11256614,11230166,11076863 136051 NM_152411,AACC02000041,AC073422,CH471146,AK095701,AK297472,AL834510,BC109245,BC128392,BX647929,DB316299,DB453090,CO249227 NP_689624,EAL24426,EAW80062,EAW80063,EAW80064,BAG59893,CAD39166,AAI09246,AAI28393,CAI46083,Q2VP97,Q5HYD6,Q8N393,CAL37751,CAL37799 Hs.31743 DKFZp762I137|MGC156120 zinc finger protein 786 protein-coding 1603274 ZNF787 zinc finger protein 787 12477932 126208 NM_001002836,AC024580,CH471135,AF000560,BC012495,BC037737,BC058034,BC077728 NP_001002836,EAW72423,AAB58413,AAH77728,Q6DD87 Hs.397153 TIP20 TTF-I interacting peptide 20|TTF-I-interacting peptide 20|transcription termination factor I interacting peptide 20|zinc finger protein 787 protein-coding 2304142 ZNF788 zinc finger family member 788 20125193 388507 NR_027049,AC022415,AI478464,AK128282,AK128700 BAC87366,BAC87578,Q6ZQV5 Hs.127473 FLJ46419|FLJ46867 pseudo 1603509 ZNF789 zinc finger protein 789 16341674,14702039,12690205,12477932 285989 NM_213603,NM_001013258,AC073063,CH236956,CH471091,AK093141,AK131429,AK309467,BC031249,BC050286,BC089424,BI767175,BM840763,BX648360 NP_998768,NP_001013276,EAL23875,EAL23876,EAW76660,BAD18576,AAH89424,Q5FWF6 Hs.440384 zinc finger protein 789 protein-coding 1344887 ZNF78L1 zinc finger protein 78-like 1 (pT3) 8478004 7631 Q15936 1346008 ZNF78L2 zinc finger protein 78-like 2 (pT3) 8478004 7632 1350135 ZNF79 zinc finger protein 79 1580863 15489334,15342556,15164053,14702039,12477932,10567577,9380504,8478004,8262519,19851296,20198315 7633 NM_007135,AL445222,CH471090,AI301044,AK054606,BC062309,BP351823,DC378814,X65232,AK302284,AK316233 NP_009066,CAH72928,EAW87665,BAB70771,AAH62309,CAA46339,Q15937,ABZ92252,BAG63627,BAH14604 Hs.522399 pT7 ZNFpT7|zinc finger protein 79 protein-coding 1603835 ZNF790 zinc finger protein 790 16344560,15489334,12477932 388536 NM_206894,AC020928,AI808437,AK297474,BC057245,BM473790,DA819130 NP_996777,BAG59895,AAH57245,Q6PG37 Hs.282067 FLJ20350|MGC62100 zinc finger protein 790 protein-coding 1605566 ZNF791 zinc finger protein 791 15342556,12477932 163049 NM_153358,AC010422,CH471106,CQ783985,AK074877,AK297715,AK298597,AK307775,BC106937,BC106938,BP319293,DC329382 NP_699189,EAW84278,CAF86957,BAC11261,BAH12653,BAH12822,AAI06938,AAI06939,Q3KP31,ABZ92117 Hs.720677 FLJ90396|MGC126179|MGC126180 OTTHUMP00000209865|zinc finger protein 791 protein-coding 1606468 ZNF792 zinc finger protein 792 16344560,12477932,8889548,20379614,16712791 126375 NM_175872,AC008555,AK095770,AK130901,AK304550,AL517807,BC101118,BC101119,BC101120,BC106043,BU428746,BU686719,CB108971,CR594544,DB257726,W18184 NP_787068,BAG65345,AAI01119,AAI01120,AAI01121,Q3KQV3 Hs.50405 FLJ38451|MGC117233|MGC119731 zinc finger protein 792 protein-coding 1602030 ZNF793 zinc finger protein 793 16344560,8889548 390927 NM_001013659,AC022148,CH471126,AK131417,AK303740,BC150303,BE219465,BU683546,BX537524,CR616392,DB180171 NP_001013681,EAW56733,EAW56734,BAD18564,BAG64713,CAD97772,Q6ZN11 Hs.568010 zinc finger protein 793 protein-coding 1604764 ZNF799 zinc finger protein 799 16344560,15489334,14702039,12477932 90576 AC008758,CH471106,AK027660,AL832890,BC009517,CB988846,DB198205,NM_001080821 EAW84271,AAH09517,Q96GE5,NP_001074290 Hs.546637 HIT-40|MGC71805|ZNF842 OTTHUMP00000209843|protein for MGC71805|zinc finger protein 14|zinc finger protein 799|zinc finger protein 842|zinc finger protein HIT-40 protein-coding 1321682 ZNF8 zinc finger protein 8 1580863 15489334,14702039,12477932,12370310,9373149,8125298,2106481,16964243 7554 NM_021089,AC020915,CH471135,AK093110,AK225825,AK299716,BC039323,M29581 NP_066575,EAW72570,BAG52656,BAG61616,AAH39323,AAA61314,P17098,ABZ92246 Hs.590941,Hs.713519 HF.18|Zfp128 zinc finger protein 272|zinc finger protein 8|zinc finger protein 8 (clone HF.18)|zinc finger protein HF.18 protein-coding 1350909 ZNF80 zinc finger protein 80 1580863 12477932,8478004,7659503 7634 NM_007136,AC093010,CH471052,BC069606,BC069826,BC129925,CA420107,X65233 NP_009067,EAW79603,AAH69606,AAH69826,AAI29926,CAA46340,P51504 Hs.724900,Hs.271079 pT17 OTTHUMP00000214908|ZNFPT17|zinc finger protein 80 protein-coding 1603887 ZNF800 zinc finger protein 800 17567994,14702039,12477932 168850 NM_176814,AC000127,CH236947,CH471070,AF218032,AK125291,AK297946,AK309674,BC037348,BC047641,BC110623,BC110624,DQ655936 NP_789784,EAW83625,EAW83626,EAW83627,AAG17274,BAH12693,AAH37348,AAH47641,AAI10624,AAI10625,Q2TB10,Q49A13,Q4G0T8 Hs.159006 FLJ43301|MGC130032|MGC130033 OTTHUMP00000069089|OTTHUMP00000069090|zinc finger protein 800 protein-coding 1349576 ZNF804A zinc finger protein 804A 19844207,20048749,20231838,20368704,20379614,20862696,20934520,20946959,21040459,19407193,18677311,16713569,14702039,12970790,12477932,9110174,8619474,20688871,20538430,20603450,20664580 91752 NM_194250,AC010747,AC096667,AC112720,CH471058,AF052145,AK055275,AK127762,AK131402,AK295280,AK307596,AY327407,BC136602,BC142612,BC150198 NP_919226,EAX10945,EAX10946,BAD18549,BAG58264,AAP92799,AAI36603,AAI42613,AAI50199,Q7Z570 Hs.159528 C2orf10 zinc finger protein 804A protein-coding 1601814 ZNF804B zinc finger protein 804B 14702039,9847074,12477932,20379614,20547088,21079607,20966902 219578 NM_181646,AC002068,AC002127,AC002382,AC004015,AC004746,AC006350,AC074253,AC079744,CH236949,CH471091,AK056672,AY295769,BC140826,BC140829 NP_857597,EAL24168,EAW76900,BAB71248,AAP49447,AAI40827,AAI40830,A4D1E1 Hs.684410 FLJ32110 zinc finger 804B|zinc finger protein 804B protein-coding 1604434 ZNF805 zinc finger protein 805 12477932,18821565 390980 NM_001023563,NM_001145078,AC005261,AF024708,AK297977,BC140786,CR936617 NP_001018857,NP_001138550,AAB81098,BAG60287,AAI40787,CAI56760,O14860,Q5CZA5 Hs.22488 DKFZp686P08106 zinc finger protein 805 protein-coding 1626191 ZNF806 zinc finger protein 806 14702039 646915 XM_001724242,AC097532,XM_002345581 XP_001724294,P0C7X5,XP_002345622 zinc finger protein 806 protein-coding 2292083 ZNF807P zinc finger protein 807 (pseudogene) 100129800 NG_011972,AC008747 ZNF181P1|ZNF807 pseudo 1603832 ZNF808 zinc finger protein 808 16344560,12477932 388558 NM_001039886,AC022150,CH471135,BC017109,BC033230,BC130351,BC130353,CR749856,DA094254,DW462787,FJ795029 NP_001034975,EAW72084,AAH17109,AAH33230,AAI30352,AAI30354,CAH18701,ACO37641,Q7Z749,Q8N4W9 Hs.235167 OTTHUMP00000212697|OTTHUMP00000212698|OTTHUMP00000212699|zinc finger protein 808 protein-coding 1349324 ZNF81 zinc finger protein 81 1580863 15121780,14702039,12477932,10398246,8507979,16344560,8088786,8088799,8088827,8530079,8938429 347344 NM_007137,AL022578,AL591394,CH471164,X68011,Z98304,AK126339,AK126949,AY487248,BC039609,BC111389,DA219953,DA316311,DR002896,NG_021266 NP_009068,CAI42737,CAI42738,CAI42739,CAI39461,CAI39462,EAW59332,EAW59333,CAA48148,CAI42943,BAC86759,AAS17752,P51508,Q6ZT36,AAI48629,CAI42942 Hs.114246 FLJ44367|HFZ20|MRX45|dJ54B20.6 OTTHUMP00000023234|OTTHUMP00000064759|zinc finger protein 81|zinc finger protein 81 (hfz20) protein-coding 1625646 ZNF812 zinc finger protein 812 729648 CH471106,AK296815,NM_001199814,XM_001726949,XM_001719513,XM_001726943,AC008759,XM_003118792,XM_003118793,XM_003118794,XM_003119715,XM_003119716,XM_003119717,XM_003120940,XM_003120941,XM_003120942 EAW84048,BAG59388,NP_001186743,XP_001727001,XP_001719565,XP_001726995,P0C7V5,XP_003118840,XP_003118841,XP_003118842,XP_003119763,XP_003119764,XP_003119765,XP_003120988,XP_003120989,XP_003120990 Hs.626848 putative zinc finger protein 812 protein-coding 1603586 ZNF813 zinc finger protein 813 16344560,14702039,20379614 126017 NM_001004301,AC022137,CH471135,AK091460,AK131422,DB066632,DB235327,DR006226 NP_001004301,EAW72143,BAD18569,Q6ZN06 Hs.710780 FLJ16542|FLJ34141 OTTHUMP00000212771|zinc finger protein 813 protein-coding 1606076 ZNF814 zinc finger protein 814 16344560,15057824,14702039,12477932 730051 NM_001144989,AC010326,CH471135,AF086563,AK022663,AK091350,AK300483,DA017534,AK096401,BC056684 NP_001138461,EAW72539,BAH13293,B7Z6K7 Hs.634143 FLJ39082 Putative zinc finger LOC730051|putative uncharacterized zinc finger protein 814|putative zinc finger protein LOC730051 protein-coding 1604428 ZNF815 zinc finger protein 815 14702039 401303 NR_023382,AC004983,AC008167,AK096288,AK291169 BAF83858 Hs.372707 FLJ38969 pseudo 1604241 ZNF816A zinc finger protein 816A 12477932,16344560,20953187 125893 NM_001031665,AC010328,AC010487,CH471135,AA884369,AK291990,AL713804,BC063805,BC105739,BC105740,BC105930,DA473052,NM_001202456,NM_001202457 NP_001026835,EAW72106,EAW72107,BAF84679,CAH56373,AAI05740,AAI05741,AAI05931,Q0VGE8,NP_001189385,NP_001189386 Hs.655592 MGC125619|ZNF816A zinc finger protein 816A protein-coding 1625098 ZNF816B zinc finger protein 816B 729840 XM_001131483,XM_001127292,AC022150 XP_001131483,XP_001127292 Hs.467210 protein-coding 1604435 ZNF818P zinc finger protein 818 pseudogene 390963 NG_008186,AC092070,AK128250 BAC87353,Q6ZRF7 Hs.444446 FLJ46385|ZNF818 pseudo 1604613 ZNF821 zinc finger protein 821 12477932,16189514,9110174,8619474,20379614,16344560,20795678,17207965 55565 NM_017530,AC009127,AC010653,CH471166,AF070588,AK313693,BC004563,BC012116,BC091492,CR601716,AK296603,AK131336,AL538838,DA324992,NM_001201552,NM_001201553,NM_001201554,NM_001201556 NP_060000,EAW59210,EAW59211,EAW59212,EAW59213,EAW59214,EAW59215,EAW59216,EAW59217,EAW59218,EAW59219,AAC28648,AAH12116,O75541,BAG59216,NP_001188481,NP_001188482,NP_001188483,NP_001188485,ADQ32310 Hs.643531 FLJ16350 zinc finger protein 821 protein-coding 2307387 ZNF823 zinc finger protein 823 20936779,12477932,16344560 55552 NM_001080493,AC008543,CH471106,AK300579,AK303213,AK308189,BC052597,BC063560,DA880101,X51760 NP_001073962,EAW84239,BAG62278,BAH13920,AAH52597,AAH63560,CAA36064,P16415 Hs.142167 HSZFP36 OTTHUMP00000210067|ZFP 36 for a zinc finger protein|ZFP-36 for a zinc finger protein|zinc finger protein 823|zinc finger protein ZFP-36 protein-coding 2289737 ZNF826 zinc finger protein 826 12477932,8889548,15146197,16344560 664701 BC036006,BM678443,AC008554,BC016785,BC017970,BC022411,CN429809,DA183158,NR_036455 Q6ZT77,Q8TBL2,Q8WVI3,AAH17970,AAH22411 Hs.631635,Hs.726632 FLJ44894|ZNF826 zinc finger protein 826 pseudo 1606144 ZNF827 zinc finger protein 827 19240061,16751668,16344560,14702039,12477932,9373149,8125298,20379614 152485 BC143577,DA760145,AC104791,AC107212,CH471056,DQ384490,AB074279,AF450485,AI694534,AK056492,AK091130,AK094136,AK225805,BC033655,BC117407,NM_178835 AAI43578,Q0H0I3,Q17R98,NP_849157,EAX05033,EAX05034,EAX05035,ABD48897,AAP97679,BAG51731,BAC03591,BAG52823,AAI17408 Hs.133916,Hs.633543 OTTHUMP00000220099|OTTHUMP00000220100|zinc finger protein 827 protein-coding 1322656 ZNF828 zinc finger protein 828 14702039,12477932,11347906,21063390,18029348,17081983,16964243,15489334,15302935,15057823,15146197,16344560,8889548 283489 NM_032436,AL160396,AL845154,CH471085,AB058705,AK074894,AK096346,BC004820,BC019576,BC065237,BM663717,CN365659,DA289328,DB229502,NM_001164144,NM_001164145 NP_115812,CAI23600,EAX09253,EAX09254,BAB47431,BAC11273,BAG53268,AAH04820,AAH65237,Q96JM3,ABZ92044,NP_001157616,NP_001157617 Hs.7542 C13orf8|CAMP|FLJ90413|KIAA1802 chromosome 13 open reading frame 8|chromosome alignment-maintaining phosphoprotein|zinc finger protein 828 protein-coding 2292093 ZNF829 zinc finger protein 829 16344560,12477932 374899 NM_001037232,DB031896,NM_001171979,AC008733,AK130969,BC107131,BC107132,BX538288,CR936826,DA033883 NP_001165450,BAC85471,AAI07132,AAI07133,CAD98083,Q3KNS6,NP_001032309 Hs.720312 DKFZp686K21248|DKFZp779O175|FLJ27459|MGC129866|MGC129867 zinc finger protein 829 protein-coding 1342538 ZNF83 zinc finger protein 83 1580863 16344560,15231748,14702039,12477932,9373149,8125298,8088807,7865130,2505992,20936779 55769 DA449506,DA497861,DB107467,DB252431,DR761375,M27877,NM_018300,NM_001105554,NM_001105552,NM_001105551,NM_001105550,NM_001105549,NM_001105553,AC022150,CH471135,AA883993,AB209516,AK001877,AK027518,NR_003936,AK054659,AK055318,AK075066,AK225945,AK289399,AY500361,BC013321,BC017737,BC032867,BC050407,BC063032,BG260506,BG741860,BX641726,BX647540,DA107683,DA151844,AK027782,DA183557 AAG41760,P51522,Q59FE4,Q6P579,Q6RFR7,Q96K00,Q96SV5,Q9NV05,NP_060770,NP_001099024,NP_001099022,NP_001099021,NP_001099020,NP_001099019,NP_001099023,EAW72088,EAW72089,EAW72090,EAW72091,BAD92753,BAA91956,BAB55171,BAB55364,BAG51500,BAG52058,BAF82088,AAS55111,AAH32867,AAH50407,AAH63032 Hs.467210,Hs.659798,Hs.710125,Hs.665751 FLJ11015|FLJ14876|FLJ30097|FLJ90585|HPF1|MGC33853|ZNF816B zinc finger protein 816B|zinc finger protein 83|zinc finger protein HPF1 protein-coding 1605313 ZNF830 zinc finger protein 830 17081983,16344560,15489334,14702039,12477932,8889548,18029348,19773279 91603 NM_052857,AC022903,CH471147,AI866097,AK055707,AK315671,BC002913,BC009044,BC011584,BG766126,BM720333,BM969401,CR606415,CR617791,CR620924,DB030670 ABM86454,NP_443089,EAW80200,BAB70992,BAG38036,AAH02913,AAH09044,AAH11584,Q96NB3,ABM83252 Hs.413678 CCDC16|MGC20398|OMCG1|SEL13 coiled-coil domain containing 16|coiled-coil domain-containing protein 16|sel-13 suppressor of lin-12 homolog|zinc finger protein 830 protein-coding 1316121 ZNF831 zinc finger protein 831 19430479,19875103,12477932,11780052 128611 NM_178457,AL121919,AL713683,AL833682,BC033155 NP_848552,CAI21544,CAD28487,CAI46154,Q5JPB2 Hs.473204 C20orf174|dJ492J12.1 chromosome 20 open reading frame 174|zinc finger protein 831 protein-coding 1606634 ZNF833 zinc finger protein 833 16344560,12477932 401898 AC008543,CH471106,AK126753,BC137336,BC137337,BX089669,DA519061,DA919609,AI623739,DA526679,NR_028594 EAW84238,BAC86674,AAI37337,AAI37338,Q6ZTB9 Hs.672384 ZNF833 pseudo 3378722 ZNF834 zinc finger protein 834 441955 AL163202 CAB90395,Q9NSJ1 PRED65|zinc finger protein 834 protein-coding 1602312 ZNF835 zinc finger protein 835 14702039 90485 NM_001005850,AC007228,AK023017,AK299565 NP_001005850,AAD23609,BAH13066,Q9Y2P0 Hs.458438 BC37295_3 zinc finger protein 835 protein-coding 2293896 ZNF836 zinc finger protein 836 12477932 162962 NM_001102657,AC010320,AC011468,AK131308,BC011784,BC049172 NP_001096127,BAD18474,Q6ZNA1 Hs.631584 FLJ16287 zinc finger protein 836 protein-coding 2293901 ZNF837 zinc finger protein 837 12477932 116412 BC012365,BC029960,BX332043,BX374687,NM_001129730,NM_138466,AC012313,CH471135 AAH12365,Q96EG3,NP_001123202,NP_612475,EAW72579 Hs.222236 zinc finger protein 837 protein-coding 1343787 ZNF839 zinc finger protein 839 20936779,14702039,12477932,10508479,9373149,8125298 55778 NM_018335,AL137229,AL352978,CH471061,AF155112,AK001994,AK093342,AK125678,AK127821,AK223312,AK289632,AL137478,BC006222,BC006228,BC042659,BC073137,BQ019232,BX248266,CR609610,CR610461,CR613117,CR621855,DB460089 NP_060805,EAW81781,EAW81782,EAW81783,EAW81784,AAD42878,BAA92026,BAG52694,BAG54234,BAG54578,BAD97032,BAF82321,CAB70759,AAH73137,CAD62594,A8K0R7,Q86TU1,Q9NT83,Q9Y595 Hs.106005,Hs.712065 C14orf131|FLJ11132 renal carcinoma antigen NY-REN-50|zinc finger protein 839 protein-coding 3322019 ZNF839P1 zinc finger protein 839 pseudogene 1 100419733 AC009235,NG_021945 pseudo 1351858 ZNF84 zinc finger protein 84 1580863 14702039,2505992,16344560,15489334,12477932,11856868,1945843 7637 AK054847,AK055603,NM_003428,BQ775424,BQ787271,DA663778,DA739478,DB074516,DB096505,DN601581,M27878,X60156,NM_001127372,AC073911,CH471218,AA679683,AK314232,BC036656,BC048350,BC062552 NP_003419,AAH62552,AAA79359,CAB94232,P51523,NP_001120844,EAW54799,EAW54800,EAW54801,EAW54802,BAG36902,AAH36656,AAH48350 Hs.722182,Hs.445019 HPF2 zinc finger protein 84|zinc finger protein HPF2 protein-coding 2298823 ZNF840P zinc finger protein 840 (pseudogene) 100130863 XM_001722110,XM_001722520,XM_001722067,AL031686,CH471077 XP_001722162,XP_001722572,XP_001722119,EAW75736,A6NDX5 Hs.560969 C20orf157|ZNF840|ZNF840P|dJ981L23.3 putative zinc finger protein 840|zinc finger protein 840 (pseudogene)|zinc finger protein 840, pseudogene protein-coding 2303672 ZNF841 zinc finger protein 841 14702039,12477932 284371 NM_001136499,AC011468,AK093512,AK094953,AK129938,AK131334,AK131409,BC136254 NP_001129971,BAC04190,BAC85253,BAD18493,BAD18556,AAI36255,Q6ZN19 Hs.665751 zinc finger protein 841 protein-coding 1606633 ZNF842 zinc finger protein 842 12477932 403113 NM_203381,AC008758,AL554508,CB988846 NP_976315,Q6PEW9 Hs.546637 MGC71805 protein-coding 2300359 ZNF843 zinc finger protein 843 12477932 283933 NM_001136509,AC026471,AK096248,AK291063,BC036762 NP_001129981,BAG53240,BAF83752,AAH36762,Q8N446 Hs.722243 MGC46336 zinc finger protein 843 protein-coding 2300035 ZNF844 zinc finger protein 844 14702039,12477932 284391 BC125185,BC125186,NM_001136501,AC022415,CH471106,AK027865,AK098117,AK299732,AL832297 CAI46141,AAI25187,Q08AG5,Q96JV1,NP_001129973,EAW84257,BAB55416,BAG53579,BAG61630 Hs.646391 FLJ14959|MGC150553 OTTHUMP00000209835|zinc finger protein 844 protein-coding 2298741 ZNF845 zinc finger protein 845 14702039,12477932 91664 NM_138374,AC010467,AK096653,AK295079,BC007307 NP_612383,BAG58121,AAH07307,Q96IR2 Hs.720672 zinc finger protein 845 protein-coding 2298731 ZNF846 zinc finger protein 846 14702039,12477932 162993 NM_001077624,AC008752,AK097652,AK308938,BC037359,BC118576,BC118657 NP_001071092,BAG53503,AAI18577,Q147U1 Hs.665717 zinc finger protein 846 protein-coding 2299184 ZNF847P zinc finger protein 847 pseudogene 11891061 401983 AL136378,AF387613,NR_036753 AAL91354,Q8TDK4 Hs.681816 gm127 pseudo 3378211 ZNF848P zinc finger protein 848 (pseudogene) 100380945 AC060771,NG_016731 pseudo 2301264 ZNF849P zinc finger protein 849 pseudogene 100130108 NG_009810,AC011467,AC024563 pseudo 1343266 ZNF85 zinc finger protein 85 1580863 9839802,12477932,9406578,8467795,2505992,2023909,15342556 7639 NM_003429,AC008739,CH471106,AI253261,BC008688,BC036394,BC047646,BC068066,CR604668,D70831,DN994243,M61866,M61868,U35376,BP199573,DB524732,NR_034060 NP_003420,EAW84882,EAW84883,AAH08688,AAH47646,AAH68066,BAA24050,AAA52689,AAA58671,AAA79179,O43693,Q03923,Q49A12,Q6NVI0,Q96HE0 Hs.37138 HPF4|HTF1|MGC78566 zinc finger protein 85|zinc finger protein 85 (HPF4, HTF1)|zinc finger protein HPF4|zinc finger protein HTF1 protein-coding 2302450 ZNF850P zinc finger protein 850 pseudogene 12477932 342892 AC020928,AC074138,BC052603,BC136266,BC143637,CR627133,NM_001193552 A8MQ14,NP_001180481 Hs.406307 ZNF850P putative zinc finger protein ENSP00000330994 protein-coding 2298810 ZNF852 zinc finger protein 852 12477932 285346 XM_001717544,XM_001725070,AC099669,CH471055,AK131507,AK296954,BC014381 XP_001717596,XP_001725122,BAG59499,Q6ZMS4,EAW64710 Hs.648974 OTTHUMP00000209916|putative zinc finger protein 852|zinc finger protein 852 protein-coding 2302454 ZNF853 zinc finger protein 853 18669648,12853948 54753 NM_017560,AC073343,CH236963,AL133055,AL390175 NP_060030 Hs.592170 DKFZp434J1015|DKFZp547K054 zinc finger protein 853 protein-coding 4891178 ZNF859P zinc finger protein 859, pseudogene 100507490 AL591602 pseudo 1352668 ZNF86 zinc finger protein 86 (HPF5) 7640 2301111 ZNF860 zinc finger protein 860 16641997 344787 NM_001137674,AC108485,AK294003 NP_001131146,BAG57365,A6NHJ4 Hs.585139 FLJ60236 zinc finger protein 860 protein-coding 2312695 ZNF861P zinc finger protein 861 pseudogene 15057824 100302737 AC004510,NG_023047 AAC08455,O60384 pseudo 2299992 ZNF862 zinc finger protein 862 16344560,14702039,12477932,9628581 643641 NM_001099220,AC004877,AB011115,AK054924,AK128787,BC041427,BC045757,BC092506,BC113087,BQ270712,CR616081,CR617664,DA724031,DA797323 NP_001092690,BAA25469,AAI13088,O60290 Hs.301277 FLJ30362|KIAA0543 zinc finger protein 862 protein-coding 4109409 ZNF865 zinc finger protein 865 100133142 AC008735,XM_001718400,XM_002345224,NM_001195605 XP_001718452,XP_002345265,NP_001182534 zinc finger protein 865 protein-coding 1348551 ZNF87 zinc finger protein 87 (HPF6) 7641 2303325 ZNF876P zinc finger protein 876 (pseudogene) 16344560,15815621,15489334,12477932 642280 NR_027481,AC079140,AC108475,BC028359,BC046475,DB024685,CH471131 Q49A33,EAW82673 Hs.673877 MGC26356|MGC51010 pseudo 3207633 ZNF878 zinc finger protein 878 729747 AC022415,NM_001080404 C9JN71,NP_001073873 Hs.704229 zinc finger protein 878 protein-coding 3029695 ZNF879 zinc finger protein 879 345462 AC104117,AK300504,BX114675,BX648737,DC350553,NM_001136116 B4DU55,BAG62217,NP_001129588 Hs.445740 DKFZp686E2433 zinc finger protein 879 protein-coding 1345964 ZNF88 zinc finger protein 88 (HPF8) 7642 3207968 ZNF880 zinc finger protein 880 11827452,12477932,14702039 400713 AC010320,AC010332,AF086165,AF088022,AI754748,AK297834,BC013198,BC056265,BC058819,DC419753,NM_001145434 AAH58819,BAG60168,NP_001138906,Q6PDB4 Hs.502314 zinc finger protein 880|zinc finger protein LOC400713 protein-coding 3186102 ZNF883 zinc finger protein 883 14702039,15164053 169834 AK095843,AL162588,CH878453,CR602666,NM_001101338 EAW50554,NP_001094808,P0CG24 Hs.192877 zinc finger protein 883 protein-coding 3322018 ZNF884P zinc finger protein 884, pseudogene 100419729 AC009240,NG_021920 pseudo 3322017 ZNF885P zinc finger protein 885, pseudogene 100419734 AC009240,NG_021946 pseudo 3322021 ZNF886P zinc finger protein 886, pseudogene 100419728 AC009233,NG_021919 pseudo 4109179 ZNF888 zinc finger protein 888 388559 AC010487,CH471135,XM_001725033,XM_001725901,XM_496322 EAW72103,XP_001725085,XP_001725953,XP_496322 zinc finger protein 888 protein-coding 4109380 ZNF890P zinc finger protein 890, pseudogene 11181995,12477932 645700 AC092028,AK295403,BC127664,CH471144,NR_034163 BAG58355,EAW87323 Hs.690815 pseudo 1350332 ZNF90 zinc finger protein 90 1580863 12477932,18029348,2023909,15146197,11181995,8467795 7643 NM_007138,AC006539,AC011447,CH471106,AK298173,BC137211,BX102781,CN386341,CR593334,CR614976,M61870 NP_009069,EAW84871,EAW84872,BAG60444,AAI37212,AAA36028,Q03938 Hs.55304 HTF9 OTTHUMP00000212591|OTTHUMP00000212593|zinc finger protein 90|zinc finger protein HTF9 protein-coding 1347563 ZNF91 zinc finger protein 91 1580863 2023909,8467795,19240061,16730941,16344560,11470777,2505992 7644 NM_003430,AC010300,AC016628,AC022409,AC093058,CH471106,AI590336,AK291256,AK300294,DB219374,L11672,M61871 NP_003421,EAW84940,BAF83945,BAH13252,AAA59469,AAA58672,Q05481 Hs.654471 HPF7|HTF10 zinc finger protein 91|zinc finger protein 91 (HPF7, HTF10)|zinc finger protein HPF7|zinc finger protein HTF10 protein-coding 1347840 ZNF92 zinc finger protein 92 1580863 2023909,15489334,14702039,12477932,8467795,20379614,18029348,20211142,19913121,20628086 168374 NM_152626,NM_007139,AC092685,CH471262,AK091618,AK093566,BC036439,BC040594,BX647875,M61872 NP_689839,NP_009070,EAW52301,BAC03708,AAH36439,AAH40594,AAA58673,Q03936 Hs.9521 HPF12|HTF12|TF12 zinc finger protein 92|zinc finger protein 92 (htf12)|zinc finger protein HTF12 protein-coding 1345315 ZNF93 zinc finger protein 93 1580863 2023909,15057824,14702039,12477932,8467795,16341674,19247474,19742314,20379614 81931 NM_031218,AC007204,AC011477,CH471106,M61873,AK022550,AK096342,AK295921,BC020837,BC038096,BC039001,BC058821,BC070372,BC107581,BC136718,BC136719,BG257405,BG289439,BG542138,BM842045,BU165449 NP_112495,AAD22981,EAW84865,EAW84866,EAW84867,AAA83548,BAB14093,BAC04764,BAG58708,AAH70372,AAI07582,AAI36719,AAI36720,P35789,Q6NS90 Hs.301059,Hs.723768,Hs.724031 HPF34|HTF34|TF34|ZNF505 zinc finger protein 505|zinc finger protein 93|zinc finger protein 93 (htf34)|zinc finger protein HTF34 protein-coding 1353363 ZNF94 zinc finger protein 94 (F11465) 7647 1350420 ZNF95 zinc finger protein 95 (F13463) 7648 4889232 ZNF962P zinc finger protein 962, pseudogene 15057823 729501 AL138715,NG_023215 pseudo 1343613 ZNF97 zinc finger protein 97 (F6644) 7650 1352835 ZNF98 zinc finger protein 98 (F7175) 16344560,15489334,15057824,12477932,11181995,8467795 148198 NM_001098626,AC011494,AC011516,CH471106,BC110576,BC129810 NP_001092096,EAW84926,AAI10577,AAI29811,A6NK75 Hs.667355 F7175|MGC129634|ZNF739 zinc finger protein 739|zinc finger protein 98|zinc finger protein F7175 protein-coding 1348977 ZNF99 zinc finger protein 99 12477932,8467795 7652 NM_001080409,AC008626,AC024563,BC021822 NP_001073878,AAH21822,A8MXY4,Q8WTZ3 Hs.568380,Hs.653115 C19orf9|F8281|MGC24986 zinc finger protein 99|zinc finger protein ENSP00000375192 protein-coding 1603622 ZNFX1 zinc finger, NFX1-type containing 1 16344560,15838384,14702039,12477932,12421765,11780052,10718198 57169 NM_021035,AL049766,CH471077,AB037825,AK000573,AK002139,AK022641,AK023836,AK096594,AK307392,AU140771,BC014041,BC030789,BC041630,BC062347,BC110888,DA809204 NP_066363,CAC33877,CAI22428,CAI22429,CAI22430,EAW75661,EAW75662,EAW75663,EAW75664,BAA92642,BAA91264,BAA92102,BAB14149,BAB14696,AAH14041,AAH62347,AAI10889,Q2TAK0,Q5JXR5,Q5JXR6,Q5JXR7,Q6P6B6,Q6PJM4,Q9P2E3,AAI56358,AAI72478 Hs.371794 FLJ39275|MGC131926 NFX1-type zinc finger-containing protein 1|OTTHUMP00000031247|OTTHUMP00000063234 protein-coding 1318185 ZNHIT1 zinc finger, HIT type 1 1580863 14667819,17700068,17380123,15489334,14702039,12853948,12477932,17577209 10467 NM_006349,AC004876,CH471197,AF093571,AK092478,AK125123,AK312136,BC001877,BC010454,BC017333,CR456992,CR597071,U61837 NP_006340,AAD45833,EAW50206,EAW50207,EAW50208,EAW50209,AAF03558,BAG35072,AAH17333,CAG33273,AAB88578,O43257,ABM83201,ABM86402 Hs.211079 CG1I|ZNFN4A1 H_DJ0747G18.14|cyclin-G1-binding protein 1|p18 Hamlet|p18Hamlet|putative cyclin G1 interacting protein|zinc finger HIT domain-containing protein 1|zinc finger protein subfamily 4A member 1|zinc finger protein, subfamily 4A (HIT domain containing), member 1|zinc finger, HIT domain containing 1|zinc finger, HIT type 1|zinc finger, hit domain containing 1 protein-coding 1348570 ZNHIT2 zinc finger, HIT type 2 1580863 17643375,17656577,15489334,12477932,10873569,10602999,9373149,8125298 741 NM_014205,AP003068,CH471076,AF119497,AK027081,AK223333,AK223358,BC029825,BC038089,BC052240,BC057799,BC104002,BC104003 NP_055020,EAW74352,AAF23591,BAD97053,BAD97078,AAH29825,AAH38089,AAH52240,Q53FD1,Q53FF6,Q9UHR6 Hs.121025 C11orf5|FON|MGC120285|MGC120286 zinc finger HIT domain-containing protein 2|zinc finger, HIT domain containing 2|zinc finger, HIT type 2 protein-coding 1315114 ZNHIT3 zinc finger, HIT type 3 1580863 7776974,19149918,17081983,15489334,12477932,11916906,19596656,20211142 9326 NM_004773,AC126327,CH471199,AB209193,AF400652,AK290858,AK308583,AK310022,AV763423,BC017931,BC105608,BI767446,CB996852,L40410,AC233700 NP_004764,EAW57552,EAW57553,EAW57554,EAW57555,BAD92430,AAM82423,BAF83547,AAH17931,AAC41737,Q15649,Q59GB6 Hs.2210 TRIP3 HNF-4a coactivator|TR-interacting protein 3|TRIP-3|thyroid hormone receptor interactor 3|thyroid receptor interacting protein 3|thyroid receptor-interacting protein 3|zinc finger HIT domain-containing protein 3|zinc finger, HIT domain containing 3|zinc finger, HIT type 3 protein-coding 1607024 ZNHIT6 zinc finger, HIT type 6 17081983,16710414,15489334,15231748,14702039,12747765,12477932,16344560,17636026,20379614 54680 NM_017953,AC092807,AC099561,BX323040,CH471097,AF308296,AK000736,AK000767,AK298149,AK314566,AL442074,BC026236,BC110898,CR623162,AK022664,BQ777734,DB169943,NM_001170670 NP_060423,CAH73976,EAW73194,EAW73195,AAG48263,BAA91349,BAA91371,BAG60425,BAG37148,CAC09440,AAH26236,AAI10899,Q9NWK9,ABZ92340,NP_001164141 Hs.5111 BCD1|C1orf181|FLJ12602|FLJ20729|FLJ20760|MGC131963|NY-BR-75 box C/D snoRNA essential 1 homolog|box C/D snoRNA protein 1|serologically defined breast cancer antigen NY-BR-75|zinc finger HIT domain-containing protein 6|zinc finger, HIT type 6 protein-coding 1351679 ZNRD1 zinc ribbon domain containing 1 This gene encodes a protein with similarity to the Saccharomyces cerevisiae Rpa12p subunit of RNA polymerase I. Alternate splicing of this gene results in two transcript variants encoding the same protein. Additional splice variants have been described, but their full-length sequences have not been determined. [provided by RefSeq] 1580863 20587610,11130983,10662553,9373149,8938444,8125298,12477932,19050382,18982067,18594968,18564169,18058465,17492506,17389617,16713569,16189514,15662122,15489334,15358150,14726695,14574404,19115949,12795835,19693088,19851445,20041166,20192730 30834 NM_170783,NM_014596,AB202082,AF230338,AL669914,AL671859,AL845439,BX088647,BX927229,CH471081,CR388205,CR759763,CR759960,U53588,AF024616,AF024617,AF230337,AF238320,AF238321,AK225874,BC010898,BC050608,BC051741,CR457109 NP_740753,NP_055411,BAE78600,AAG50160,CAI18176,CAI17577,CAI18538,CAI95579,CAQ10492,EAX03250,EAX03251,EAX03252,CAQ06749,CAQ08159,CAQ09120,AAF40469,AAG50159,AAH10898,AAH50608,CAG33390,Q2L6J2,Q9P1U0,ABZ92022 Hs.57813 HTEX-6|MGC13376|Rpa12|TEX6|hZR14|tctex-6 DNA-directed RNA polymerase I subunit RPA12|RNA polymerase I small specific subunit Rpa12|transcription-associated zinc ribbon protein|zinc ribbon domain containing, 1|zinc ribbon domain-containing protein 1 protein-coding 1349961 ZNRF1 zinc and ring finger 1 In a study identifying genes in rat that are upregulated in response to nerve damage, a gene which is highly expressed in ganglia and in the central nervous system was found. The protein encoded by the rat gene contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification. The protein encoded by this human gene is highly similar in sequence to that encoded by the rat gene. [provided by RefSeq] 1580863 16381901,15489336,15489334,14702039,14561866,12477932,11427537,11256614,11230166,11076863,19549727,19690564,19737534,19844255 84937 AL834440,BC007235,BQ884230,CR594702,CR598108,CR602026,CR604234,CR611561,CR615201,CR623763,HC309814,NM_032268,AC092383,AC099508,CH471114,AF378524,AK027752,AK094870,AK294434,AL136903,AL390144 CAD39100,AAH07235,Q8ND25,CAL37666,ABZ92077,CBJ21214,NP_115644,EAW95668,EAW95669,EAW95670,EAW95671,AAK69753,BAG57678,CAB66837 Hs.427284 DKFZp434E229|FLJ14846|MGC15430|NIN283 E3 ubiquitin-protein ligase ZNRF1|nerve injury gene 283|nerve injury-induced gene 283 protein|zinc and ring finger protein 1|zinc/RING finger protein 1 protein-coding 1352531 ZNRF2 zinc and ring finger 2 1580863 17081983,16215985,14561866,12690205,19690564 223082 NM_147128,AACC02000087,AC006978,CH471073,AF513707,AF527533,AK025240,AY054122 NP_667339,EAL24455,EAW93938,EAW93939,AAQ08115,AAM88868,AAL14867,Q8NEX1,Q8NHG8,AAI72400 Hs.487869 RNF202 E3 ubiquitin-protein ligase ZNRF2|RING finger protein 202|protein Ells2|zinc finger/RING finger 2|zinc/RING finger protein 2 protein-coding 1342950 ZNRF3 zinc and ring finger 3 15489334,15461802,14702039,12477932,12168954,11181995,10591208,10574461,16713569,19690564,19913121,20628086,20935629 84133 NM_032173,AL021393,AL031596,CH471095,Z95113,AB051436,AK022809,AK025710,AK096397,BC009252,BC021570,BC042614,BC051344,BC069019,BC094857,CR456397,CR596794,CR613419,CR619005 NP_115549,CAI17992,EAW59767,EAW59768,EAW59769,EAW59770,CAI17901,BAB33319,BAG53280,AAH09252,AAH21570,AAH69019,AAH94857,CAG30283,Q96GS9,Q9ULT6,AAI67805,CAK54386,CAK54685 Hs.655242 BK747E2.3|RNF203 RING finger protein 203|novel C3HC4 type Zinc finger (ring finger)|zinc/RING finger protein 3 protein-coding 1345671 ZNRF4 zinc and ring finger 4 1580863 19690564,15489334,15057824,12477932,10191088 148066 NM_181710,HC007388,HC044533,AC005764,CH471139,AK098722,AK292251,BC017592 CBH19499,CBH30596,NP_859061,AAC62428,EAW69169,BAF84940,AAH17592,Q8WWF5 Hs.126496 RNF204|SPERIZIN|Ssrzf1|spzn RING finger protein 204|zinc/RING finger protein 4 protein-coding 1347809 ZP1 zona pellucida glycoprotein 1 (sperm receptor) 15142998,18033806,16554811,15860499,15461625,12477932,10542331,7592984,20532885,19423540,20406964,20438785,20504872 22917 NM_207341,AC004126,AP000777,CH471076,AI208352,AI766401,BC067899,CR741030 NP_997224,EAW73903,AAH67899,P60852,Q6NVU7 Hs.172130 MGC87693 zona pellucida protein 1|zona pellucida sperm-binding protein 1|zp-1 protein-coding 735363 ZP2 zona pellucida glycoprotein 2 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. [provided by RefSeq] 1580863 15950651,8385033,17474147,18033806,16407501,15489334,14511786,12852850,12477932,11940668,11854410,11804956,11784014,11739644,10924747,10864856,10570015,10493829 7783 NM_003460,AF001550,CH471228,AK293805,AK308820,AK310454,AK313003,BC096304,BC096305,BC096306,BC096307,M90366 NP_003451,AAB67599,EAW66859,EAW66860,BAG57212,BAG35839,AAH96304,AAH96305,AAH96306,AAH96307,AAA61335,Q05996,Q4VAP1 Hs.73982 ZPA|Zp-2 zona pellucida glycoprotein ZP2|zona pellucida protein A|zona pellucida sperm-binding protein 2 protein-coding 1352592 ZP3 zona pellucida glycoprotein 3 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq] 1580863 15950651,18667750,18033806,17192598,16407501,16344560,15379548,14702039,14673092,12477932,12035074,11940668,11854410,11804956,10864856,10099990,8984187,8467708,8269854,7789967,2385582,1478648,18502569,11739644,19004505,19246320,20237496 7784 NM_007155,NM_001110354,A18567,CH471220,AK056788,AK292763,BC113949,BI828655,CA421411,CR606111,CR623130,DB328313,M60504,S52509,X56777 NP_009086,NP_001103824,CAA01398,EAW71807,EAW71808,BAF85452,AAI13950,AAA61336,AAA13165,CAA40095,P21754,Q2XN66,AAI40333,AAI46483 Hs.656137 ZP3A|ZP3B|ZPC|Zp-3 OTTHUMP00000208547|ZP3A/ZP3B|sperm receptor|zona pellucida glycoprotein 3A (sperm receptor)|zona pellucida glycoprotein 3B|zona pellucida glycoprotein ZP3|zona pellucida protein C|zona pellucida sperm-binding protein 3 protein-coding 1345250 ZP4 zona pellucida glycoprotein 4 The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq] 1580863 15950651,18029348,18667750,17554300,16710414,16407501,15805145,15489334,15142998,12477932,11940668,11854410,11804956,11291774,10864856,7841460,20708005,11053263,19004505,19625618,19626040,20379614 57829 NM_021186,AL359924,CH471098,U05781,AK314151,BC069521,BE439656,DV080723 NP_067009,CAI22066,EAW70072,AAA74391,BAG36838,AAH69521,Q12836 Hs.136241 ZBP|ZP1|ZPB|Zp-4 zona pellucida B protein|zona pellucida protein B|zona pellucida sperm-binding protein 4 protein-coding 1351452 ZPBP zona pellucida binding protein ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM] 1580863 17664285,15489334,12883658,12853948,12477932,10924747,9378618,21116278 11055 NM_007009,NM_001159878,AC034148,AC096568,CH236955,CH471128,AI207093,AK312799,BC005223,BT006822,D17570 NP_008940,NP_001153350,AAS07558,AAS07517,EAL23903,EAW60984,AAH05223,AAP35468,BAA04495,Q9BS86,ABM92246,ABM84723 Hs.388841 FLJ93221|ZPBP1 OTTHUMP00000208840|zona pellucida binding protein 1|zona pellucida-binding protein 1 protein-coding 1603918 ZPBP2 zona pellucida binding protein 2 17664285,16344560,15489334,12883658,12477932,20639880,19732864 124626 AC090844,NM_199321,NM_198844,CH471152,AK292383,AY251603,AY251604,BC043152,DB056422,HC007392,HC044535 NP_955353,NP_942141,EAW60610,EAW60611,BAF85072,AAP83950,AAP83951,AAH43152,Q6X784,CBH19501,CBH30597 Hs.367245 MGC41930|ZPBPL ZPBP-like protein|zona pellucida binding protein-like|zona pellucida-binding protein 2 protein-coding 1606973 ZPLD1 zona pellucida-like domain containing 1 18632209,12477932,20950786,20237496 131368 BC021279,NM_175056,AC069529,CH471052,AY090780,BC031261,BC143817 NP_778226,EAW79766,AAM09816,AAH21279,AAH31261,Q8TCW7 Hs.352213 OTTHUMP00000214440|OTTHUMP00000214470|ZP domain-containing protein 1|zona pellucida-like domain-containing protein 1 protein-coding 1318817 ZRANB1 zinc finger, RAN-binding domain containing 1 1580863 18029348,18281465,11463333,12477932,19615732 54764 NM_017580,AL731571,AL731577,CH471066,AJ252060,AK302810,AK307386,AL832925,BC048281 NP_060050,CAI16103,CAH72159,EAW49252,EAW49253,CAB64449,CAH10620,Q9UGI0,AAI52729,BAG64010 Hs.595158 DKFZp762P2216|TRABID TRAF-binding protein domain|hTrabid|ubiquitin thioesterase ZRANB1|zinc finger Ran-binding domain-containing protein 1 protein-coding 736628 ZRANB2 zinc finger, RAN-binding domain containing 2 1580863 16344560,8889548,9931435,16982639,17353931,17620599,19052380,17081983,15489334,15302935,14702039,14559993,12657633,12477932,11448987,11337467,11230166,10773668,9373149,8125298,19615732 9406 BU677906,DA523601,NM_203350,NM_005455,CH471059,AB209568,AF065391,AF065392,AK023252,AK055983,AK123114,AK222858,AL136945,AU100296,BC010962,BC033648,BC039814,BX538141,CR749325,CR749665,AL512443 NP_976225,NP_005446,CAH70058,CAH70059,EAX06432,EAX06433,EAX06434,EAX06435,BAD92805,AAD09746,AAD09747,BAD96578,CAB66879,AAH39814,CAH18180,CAH18456,O95218,Q68CX7,Q68DP0,ABZ92458 Hs.194718 DKFZp686J1831|DKFZp686N09117|FLJ41119|ZIS|ZIS1|ZIS2|ZNF265 zinc finger Ran-binding domain-containing protein 2|zinc finger protein 265|zinc finger, splicing|zinc-finger protein 265|zinc-finger, splicing protein-coding 1349256 ZRANB3 zinc finger, RAN-binding domain containing 3 16381901,15489336,15489334,14702039,12477932,11230166,11076863,20379614 84083 AC012450,AC016742,AC017031,AC020602,AC064850,CH471058,AK095362,AK131303,AK304601,AL136824,AL833322,BC089429,BX647838,NM_032143 NP_115519,AAX93066,AAY14765,EAX11629,EAX11630,EAX11631,EAX11632,EAX11633,EAX11634,EAX11635,EAX11636,BAC04536,BAG54763,BAG65387,CAB66758,AAH89429,Q53SD5,Q53SM1,Q5FWF4,Q6P2C4,Q8N1P4,CAL37572,CAL37580 Hs.658422 4933425L19Rik|MGC105033|MGC75012 OTTHUMP00000197449|zinc finger Ran-binding domain-containing protein 3 protein-coding 1347508 ZRSR1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 1580863 15489334,12558503,12477932,11118443,9490301,9237760,8630064,8586425,7956352 7310 NG_005419,AC008536,U51224,BC104811,BC113599,D49676 AAA98669,BAA08532,Q15695 Hs.637001 FLJ94140|MGC142159|U2AF1-RS1|U2AF1L1|U2AF1P|U2AF1RS1|U2AFBPL u2(rnu2) small nuclear rna auxillary factor 1-like 1 pseudo 1346246 ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq] 1580863 15146077,19204726,17081983,15489334,14702039,12477932,10508479,10330123,9237760,8586425 8233 NM_005089,NG_012746,AC004106,AC096510,CH471074,AK090845,AK309673,BC050451,BC065719,BC113454,BC113480,D49677 NP_005080,EAW98900,EAW98901,EAW98902,AAH50451,AAI13455,AAI13481,BAA08533,Q15696,Q86VN0,ADR83329 Hs.171909 MGC142014|MGC142040|U2AF1-RS2|U2AF1L2|U2AF1RS2|URP CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2|U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2|U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2|U2(RNU2) small nuclear RNA auxiliary factor 1-like 2|U2AF35-related protein|renal carcinoma antigen NY-REN-20|u2(rnu2) small nuclear rna auxiliary factor 1-like 2 protein-coding 1346488 ZSCAN1 zinc finger and SCAN domain containing 1 737633,1580863 18029348,15489334,14702039,12477932 737633 284312 NM_182572,AC008751,AC008969,CH471135,AK091098,AY280370,BC048099,BC107729 NP_872378,EAW72550,EAW72551,BAC03582,AAQ16582,AAH48099,AAI07730,Q8NBB4 Hs.643437 FLJ33779|MGC104472|MZF-1|ZNF915 zinc finger and SCAN domain-containing protein 1|zinc finger with SCAN domain 1 protein-coding 1321829 ZSCAN10 zinc finger and SCAN domain containing 10 1580863 14702039,12477932,9653642,8889549 84891 BC111367,BC114452,NM_032805,AC108134,CH471112,AK027455,AK074736 AAI14453,Q1WWM2,Q96SZ4,AAI67837,NP_116194,EAW85403,BAB55124,BAG51995 Hs.334515 FLJ14549|ZNF206 zinc finger and SCAN domain-containing protein 10|zinc finger protein 206 protein-coding 1346257 ZSCAN12 zinc finger and SCAN domain containing 12 15489334,14574404,12477932,9455477,9244436,8889548 9753 NM_001163391,NR_028077,AL358785,CH471081,Z98745,AB007886,AK289802,AL602228,BC041661,CF138460,CX868415,DB522087 NP_001156863,EAX03161,EAX03162,CAB11428,BAA24856,BAF82491,AAH41661,O43309,ABZ92462 Hs.134816 KIAA0426|ZFP96|ZNF29K1|ZNF305|ZNF96|dJ29K1.2 OTTHUMP00000016205|zinc finger and SCAN domain-containing protein 12|zinc finger protein 305|zinc finger protein 96|zinc finger protein 96 (f15034) protein-coding 1345307 ZSCAN12L1 zinc finger and SCAN domain containing 12-like 1 14702039,12477932 221584 NR_024063,AL121944,AK055113,BC040524 Hs.721232 ZNF187p1|ZNF305P1|ZNF96L1|ZNF96P1|ZSCAN12L1|dJ313I6.7 zinc finger protein 305 pseudogene 1 pseudo 1345084 ZSCAN16 zinc finger and SCAN domain containing 16 1580863 17646705,16189514,15489334,14702039,14574404,12477932,16169070,18029348 80345 NM_025231,AL358933,CH471081,CS300526,AK025844,AK294017,AK309837,BC004255 NP_079507,CAC15900,EAX03134,CAK32190,BAB15257,BAG57378,AAH04255,Q9H4T2,ABZ92203 Hs.656641 FLJ22191|ZNF392|ZNF435|dJ265C24.3 zinc finger and SCAN domain-containing protein 16|zinc finger protein 392|zinc finger protein 435 protein-coding 1343704 ZSCAN18 zinc finger and SCAN domain containing 18 16344560,15489334,14702039,12477932,9373149 65982 NM_001145542,NM_001145544,NM_001145543,NR_027135,AC008751,CH471135,AK022957,AK096238,AK126140,AK160376,AK225548,AK294376,AK296417,AL049448,AY279352,AY280799,BC006205,BC017411,BC022846,BG036776,CR617795,DA611622,DC328006,DC330828,DC354023,NM_023926 NP_076415,NP_001139014,NP_001139016,NP_001139015,EAW72557,EAW72558,EAW72559,BAB14332,BAD18719,BAG57634,BAG59079,CAH10738,AAQ62849,AAQ16303,AAH06205,AAH17411,AAH22846,Q69Z04,Q6ZMK6,Q8TBC5,Q8WWG4,ABZ92052 Hs.235390 DKFZp586B1122|FLJ12895|FLJ38919|FLJ44152|MGC2427|MGC4074|MGC8682|ZNF447 zinc finger and SCAN domain-containing protein 18|zinc finger protein 447 protein-coding 1606268 ZSCAN2 zinc finger and SCAN domain containing 2 The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq] 18029348,15489334,14702039,12477932,8889548,1937051,17207965,20531441 54993 NM_181877,NM_001007072,NM_017894,AC048382,CH471101,AK000602,AK128624,AK131309,AK291224,AW452266,AY262259,AY279349,BC041620,BC136342,BU733585,CK003500 NP_870992,NP_001007073,NP_060364,EAX01934,EAX01935,EAX01936,BAA91283,BAC87537,BAD18475,BAF83913,AAP36989,AAQ62846,AAH41620,AAI36343,Q6ZNA0,Q7Z7L9,ADQ32044 Hs.726230 FLJ20595|ZFP29|ZNF854 zfp-29|zinc finger and SCAN domain-containing protein 2|zinc finger protein 29 homolog|zinc finger protein 854 protein-coding 1353276 ZSCAN20 zinc finger and SCAN domain containing 20 1580863 16429158,16189514,15489334,12477932,2288909,18029348,20379614 7579 NM_145238,AC115285,AL138837,CH471059,AI651390,AI699720,AK131405,AK290195,BC008827,BC011404,DC336055,X52360 NP_660281,CAI19593,CAI19594,CAM12881,EAX07454,EAX07455,EAX07456,BAD18552,BAF82884,AAH08827,AAH11404,CAA36586,P17040 Hs.442705 KOX29|ZFP-31|ZNF31|ZNF360 OTTHUMP00000004352|zinc finger and SCAN domain-containing protein 20|zinc finger protein 31|zinc finger protein 31 (kox 29)|zinc finger protein 360|zinc finger protein KOX29 protein-coding 1320617 ZSCAN21 zinc finger and SCAN domain containing 21 1580863 16540086,15489334,12690205,12477932,11230166,10508479,7486829,2014798,19549071 7589 AC093619,NM_145914,CH236956,CH471091,AF155100,AK075324,AK292267,AK301871,AK313884,AL136865,BC033129,BC047309,BI764964,BM991519,CR749301 NP_666019,EAL23860,EAW76609,EAW76610,EAW76611,AAD42866,BAG52109,BAF84956,BAG63308,CAB66799,AAH33129,AAH47309,CAH18156,Q68DR4,Q8N506,Q9Y5A6,ABZ92032 Hs.632294 DKFZp434L134|DKFZp686H10254|NY-REN-21|ZNF38|Zipro1 renal carcinoma antigen NY-REN-21|zfp-38|zinc finger and SCAN domain-containing protein 21|zinc finger protein 38|zinc finger protein 38 (KOX 25)|zinc finger protein 38 homolog|zinc finger protein NY-REN-21 antigen protein-coding 1315325 ZSCAN22 zinc finger and SCAN domain containing 22 1580863 12477932,8889548,8812445,7698749,2850480,1946370,1505991 342945 NM_181846,AC010642,AC012313,CH471135,M20676,M88360,AK128716,BC101630,BC112277,BM669173,BX537741,BX647879 NP_862829,EAW72574,AAA61318,BAC87588,AAI01631,AAI12278,CAD97822,P10073,ADR83191 Hs.388162 HKR2|MGC126679|MGC138482|ZNF50 GLI-Kruppel family member HKR2|krueppel-related zinc finger protein 2|zinc finger and SCAN domain-containing protein 22|zinc finger protein 50 protein-coding 1353335 ZSCAN23 zinc finger and SCAN domain containing 23 15489334,14702039,14574404,12477932 222696 NM_001012455,CH471081,Z98745,AK092117,AK309235,AL833347,BC101557,BC101559,BX283350 EAX03164,CAC44640,CAC44641,AAI01558,AAI01560,Q3MJ62,Q96KW0,ABZ92213,NP_001012458 Hs.721841 FLJ99276|MGC126606|MGC126608|ZNF390|ZNF453|dJ29K1.3|dJ29K1.3.1 zinc finger and SCAN domain-containing protein 23|zinc finger protein 390|zinc finger protein 453 protein-coding 1605867 ZSCAN29 zinc finger and SCAN domain containing 29 16344560,15489334,14702039,12477932,12434312 146050 NM_152455,AC018924,CH471125,AF525399,AK023525,AK093186,AK093377,AK098289,AK122788,AK123753,BC017179,BC040682,BC043612,BC062551,BC109270,BC109271,CR617733,DB183454,DB365228 NP_689668,EAW92600,EAW92601,EAW92602,AAO14995,BAC04088,BAC04147,BAG53731,AAH17179,AAH43612,AAI09271,AAI09272,Q05BJ4,Q8IWY8,Q8N9Y7,Q96AG1 Hs.418287 FLJ35867|MGC129894|MGC129895|ZNF690|Zfp690 KOX31-like zinc finger protein|zinc finger and SCAN domain-containing protein 29|zinc finger protein 690 protein-coding 1351601 ZSCAN4 zinc finger and SCAN domain containing 4 15489334,15231748,14702039,12477932,20336070 201516 NM_152677,AC004017,CH471135,AK092424,BC101738,BC101740,BX118882 NP_689890,EAW72523,BAC03886,AAI01739,AAI01741,Q8NAM6,ABZ92211 Hs.469663 FLJ35105|MGC126787|MGC126789|ZNF494 zinc finger and SCAN domain-containing protein 4|zinc finger protein 494 protein-coding 1347881 ZSCAN5A zinc finger and SCAN domain containing 5A 15489334,12477932,9373149 79149 AK098700,AK223485,AK301873,BC002636,BC043232,NM_024303,AC011506,CH471135 BAC05386,BAD97205,BAG63310,AAH02636,AAH43232,Q9BUG6,ABM84055,ABM87407,EAW72434,NP_077279,EAW72433 Hs.177688 MGC4161|ZNF495|ZSCAN5 zinc finger and SCAN domain containing 5|zinc finger and SCAN domain-containing protein 5A|zinc finger protein 495 protein-coding 2293895 ZSCAN5B zinc finger and SCAN domain containing 5B 15057824,11181995 342933 NM_001080456,AC024580,CH471135,AI041519,BX094413,DW009806,EG328459 NP_001073925,EAW72432,A6NJL1 Hs.132130 ZNF495B zinc finger and SCAN domain-containing protein 5B protein-coding 2293903 ZSCAN5C zinc finger and SCAN domain containing 5C 15057824 649137 NG_012782,AC011506 A6NGD5 ZNF495C pseudo 2974875 ZSCAN5D zinc finger and SCAN domain containing 5D 15057824 646698 AC011506,CH471135,XM_001725568 EAW72435,P0CG00,XP_001725620 Hs.631578 ZNF495D Putative zinc finger and SCAN domain-containing protein 5D|putative zinc finger and SCAN domain-containing protein 5D protein-coding 1313910 ZSWIM1 zinc finger, SWIM-type containing 1 1580863 15489334,12477932,11780052 90204 NM_080603,AL008726,CH471077,AK291304,BC001672,BC080525 NP_542170,CAI20247,EAW75792,EAW75793,BAF83993,AAH01672,AAH80525,Q9BR11 Hs.517075 C20orf162 OTTHUMP00000082588|zinc finger SWIM domain-containing protein 1|zinc finger, SWIM domain containing 1|zinc finger, swim domain containing 1 protein-coding 1322798 ZSWIM2 zinc finger, SWIM-type containing 2 737633,1580863 16522193,15489334,12477932,16189514,20198315,20379614,19851296,19690564 737633 151112 NM_182521,AC018735,AC103914,CH471058,AK128006,BC031094,HC007394 NP_872327,AAY14907,AAX82016,EAX10929,BAG54618,AAH31094,Q8NEG5,CBH19502 Hs.375054 MEX|MGC33890|ZZZ2 E3 ubiquitin-protein ligase ZSWIM2|MEKK1-related protein X|ZZ-type zinc finger-containing protein 2|zinc finger SWIM domain-containing protein 2|zinc finger, SWIM domain containing 2|zinc finger, swim domain containing 2 protein-coding 1320317 ZSWIM3 zinc finger, SWIM-type containing 3 1580863 15489334,14702039,12477932,11780052,11181995,16344560 140831 NM_080752,AL008726,CH879653,AK056641,AK302767,AK316214,BC027611,BX385024,CR597199,DA520427,DC363945,NR_037628 NP_542790,CAC36014,EAW50407,BAB71239,BAG63976,BAH14585,AAH27611,Q96MP5 Hs.292135 C20orf164 zinc finger SWIM domain-containing protein 3|zinc finger, SWIM domain containing 3 protein-coding 1345804 ZSWIM4 zinc finger, SWIM-type containing 4 1580863 14702039,11214971 65249 NM_023072,AC020916,CH471106,AK022283,AK024452,BG764264,AK299057 NP_075560,EAW84373,BAB14001,BAB15742,Q9H7M6,Q9HA55,BAG61126 Hs.466015 zinc finger SWIM domain-containing protein 4|zinc finger, SWIM domain containing 4|zinc finger, swim domain containing 4 protein-coding 1321821 ZSWIM5 zinc finger, SWIM-type containing 5 1580863 16710414,15146197,12477932,20379614,10819331,8889548 57643 NM_020883,AL359473,AL592294,AB040944,BC013836,BM711793,CN429257 NP_065934,CAI16443,CAI21483,BAA96035,Q9P217 Hs.656613 KIAA1511 zinc finger SWIM domain-containing protein 5|zinc finger, SWIM domain containing 5 protein-coding 1352510 ZSWIM6 zinc finger, SWIM-type containing 6 1580863 16427614,12477932,11181995,10997877,10737800 57688 NM_020928,AC008836,AC016636,AC122718,CH471137,AA740254,AB046797,AW136453,BC039438,BF750632,BF751445,BX648543 NP_065979,EAW51397,BAB13403,Q9HCJ5 Hs.726338 DKFZp779P0344|KIAA1577 zinc finger SWIM domain-containing protein 6|zinc finger, SWIM domain containing 6|zinc finger, swim domain containing 6 protein-coding 1606167 ZSWIM7 zinc finger, SWIM-type containing 7 16710300,14702039,12477932 125150 NM_001042697,NM_001042698,AC006251,CH471222,AK093384,BC018807,BC044842,BC066344,BC089386,BC094855,BU075283,CR593112,DQ530600 NP_001036162,NP_001036163,EAX04486,EAX04487,EAX04488,ABF72190,Q19AV6,AAI48544,AAI53133 Hs.593985 SWS1 SWIM domain containing Srs2 interacting protein 1|SWIM domain-containing and Srs2-interacting protein 1 homolog|SWIM-domain containing Srs2 interacting protein 1|zinc finger SWIM domain-containing protein 7 protein-coding 1316997 ZUFSP zinc finger with UFM1-specific peptidase domain 15489334,14702039,14574404,12477932,16189514 221302 NM_145062,AL132795,CH471051,AK054582,AK307523,BC015420,BC016879,BX537872,CR602085,DB461344 NP_659499,CAI20498,CAI20499,EAW48217,EAW48218,BAB70765,AAH15420,AAH16879,CAD97873,Q96AP4 Hs.29857 C6orf113|RP3-412I7.3|dJ412I7.3 chromosome 6 open reading frame 113|zinc finger with UFM1-specific peptidase domain protein protein-coding 1319405 ZW10 ZW10, kinetochore associated, homolog (Drosophila) This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. The encoded protein binds to centromeres during the prophase, metaphase, and early anaphase cell division stages and to kinetochore microtubules during metaphase. [provided by RefSeq] 1580863 9700164,11146660,12686595,16354670,15029241,9298984,15485811,18782227,18268100,18065224,17699596,17680027,17560939,16732327,16571679,16565220,16505164,15824131,15272311,15094189,12665801,11590237,10806105,17353931,11682612,12477932,19369418,19468067 9183 NM_004724,AP002436,AP003170,CH471065,AK300746,AK303871,AK312925,BC128264,BI547129,CR622121,U54996 NP_004715,EAW67229,BAG62415,BAG64809,BAG35769,AAI28265,AAB88237,O43264 Hs.503886 HZW10|KNTC1AP|MGC149821 ZW10 homolog, centromere/kinetochore protein|centromere/kinetochore protein zw10 homolog|zeste white 10 homolog|zw10 homolog, centromere/kinetochore protein (drosophila) protein-coding 1602882 ZWILCH Zwilch, kinetochore associated, homolog (Drosophila) 12686595,15824131,19008095,14702039,12477932,20800603 55055 NR_003105,NM_017975,AC116913,CH471082,AK000898,AK023175,AK027468,AK122787,AK291048,BC036900,BC090041,BQ775697,BX640701 NP_060445,EAW77777,EAW77778,EAW77779,BAB14446,BAB55133,BAG53730,BAF83737,AAH36900,AAH90041,CAE45821,Q9H900 Hs.21331 FLJ10036|FLJ16343|KNTC1AP|MGC111034|hZwilch homolog of Drosophila Zwilch|protein zwilch homolog protein-coding 1347195 ZWINT ZW10 interactor This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] 1580863 9373149,8889548,8125298,15371340,11682612,15485811,15504738,19008095,18268100,17373700,16732327,15824131,15502821,15489334,15094189,14702039,12477932,10806105,20562859 11130 NM_032997,NM_007057,NM_001005413,AC010996,CH471083,AF067656,AK093808,AK225509,AK293416,AK298148,BC000411,BC016357,BC020979,BC110399,BG615304,BM724168,CR595414,CR608012,CR618389,CR624092,CR624675,CR624972 NP_127490,NP_008988,NP_001005413,EAW54154,EAW54155,EAW54156,EAW54157,EAW54158,EAW54159,AAC78629,BAG52767,BAG56923,BAG60424,AAH00411,AAH20979,AAI10400,O95229 Hs.591363 HZwint-1|KNTC2AP|MGC117174|ZWINT1 ZW10 interactor|ZW10-interacting protein 1|human ZW10 interacting protein-1|zwint-1 protein-coding 1344428 ZWINTAS ZW10 interactor antisense 1580863 8885239,10806105 53588 X98261 CAA66914,Q99546 Hs.591363 MPHOSPH5|MPP5 protein-coding 1354249 ZWS1 Zellweger syndrome 1 2606480 7788 1347860 ZXDA zinc finger, X-linked, duplicated A 1580863 17493635,16964243,15772651,15489334,14702039,12477932,8268913,17696781,19377476,19777325 7789 BC059356,L14787,NM_007156,AL034396,AK122815,AK292686,NG_015974 BAF85375,AAH59356,AAC37521,P98168,ABZ92265,NP_009087,CAB46717 Hs.550094 ZNF896 zinc finger X-linked protein ZXDA|zinc finger protein 896 protein-coding 1351401 ZXDB zinc finger, X-linked, duplicated B 1580863 15772651,8268913 158586 NM_007157,AL031115,CH471154,Z99130,AK124513,AK289766,AW150690,L14788 NP_009088,CAD92603,EAW93246,CAB16205,BAF82455,AAC37522,P98169,AAI57079 Hs.156257,Hs.649423 ZNF905|dJ83L6.1 zinc finger X-linked protein ZXDB protein-coding 1607003 ZXDC ZXD family zinc finger C 17493635,17696781,16600381,14702039,12975309,12477932,9110174,8619474,15604093,19777325,20379614 79364 NM_025112,NM_001040653,AC024558,AC073439,CH471052,AF131763,AK023923,AK092101,AK093796,AK095149,AK098501,AL390142,AW512405,AY277596,AY358102,AY936556,BC002940,BC012729,BC063713,BC073859,BC110644,DQ079590,FJ980275 NP_079388,NP_001035743,EAW79361,BAB14726,BAC03805,CAH10665,AAQ18035,AAQ88469,AAX23974,AAH02940,AAH12729,AAH73859,AAZ30918,Q2QGD7,Q597H2,Q69YU0,Q6DKI8,Q9H891,ABZ92056,ACR56328 Hs.440049,Hs.711046 DKFZp547N024|FLJ13861|FLJ36477|FLJ37830|MGC11349|ZXDL OTTHUMP00000222637|SERH2790|ZXD-like zinc finger protein|zinc finger protein ZXDC protein-coding 1601783 ZYG11A zyg-11 homolog A (C. elegans) 12477932 440590 NM_001004339,AC099677,CH471059,AI638616,AY271826,BC119789,BC119815 NP_001004339,EAX06770,AAQ01753,Q6WRX3 Hs.658458 ZYG11 OTTHUMP00000082752|OTTHUMP00000082753|ZYG-11A early embryogenesis protein|protein zyg-11 homolog A protein-coding 3497392 ZYG11AP1 zyg-11 homolog A (C. elegans) pseudogene 1 100131879 AL354701,AL450312,NG_021631 pseudo 1606215 ZYG11B zyg-11 homolog B (C. elegans) 17304241,14702039,19615732,12477932,11214970 79699 NM_024646,AC099784,AL139255,CH471059,AB051517,AK023518,AK056645,AK095643,AK296460,BC029832,BX647643,DQ646393,AK025056 NP_078922,EAX06771,BAB21821,BAB14596,BAG53097,BAG59107,AAH29832,ABG34237,Q9C0D3 Hs.476280 FLJ13456|ZYG11 protein zyg-11 homolog B protein-coding 1347879 ZYX zyxin Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq] 1580863 10882740,10851246,10801818,10224105,9784834,9730620,9367993,8917469,8622875,7696985,7644520,12672821,12659632,10831611,8940160,18297730,18682496,18029348,17081983,16964243,16956606,16713569,16510139,15748890,15489334,15302935,15231748,15084601,15004028,12853948,12695497,12690205,12477932,11841540,11782456,11689660,11423549,10978534,20705921,20936779,19690217,19853601,19913121,20628086 7791 NM_003461,NM_001010972,AC092214,CH236959,CH471198,AK130138,AK298925,AK299005,AK302309,AK316227,BC002323,BC008743,BC009360,BC010031,BC017183,BU844538,CR457431,U15158,X94991,X95735,HI573962,HI573964 NP_003452,NP_001010972,AAS07459,EAL23788,EAW51848,EAW51849,EAW51850,EAW51851,BAG61030,BAG61089,BAG63647,BAH14598,AAH02323,AAH08743,AAH09360,AAH10031,AAH17183,CAG33712,AAA78902,CAA64447,CAA65050,Q15942,Q28617,Q96AF9,Q9BUS0,ABM83851,ABM87173,CBX47470,CBX47471 Hs.490415 ESP-2|HED-2 OTTHUMP00000208858|OTTHUMP00000208859|zyxin|zyxin-2 protein-coding 1322516 ZZEF1 zinc finger, ZZ-type with EF-hand domain 1 737633 15231748,20379614,14702039,12477932,9455477,16169070 737633 23140 NM_015113,AC067815,AC087292,AB007859,AI205543,AK001683,AK122719,AK124719,AK127482,AK128386,AL831960,BC035319,BC047285,BC067099,BC151836,BG751247 NP_055928,BAA23695,BAA91834,BAC86999,CAD38602,AAH67099,AAI51837,O43149,Q8N3Q6,Q8TE90 Hs.277624 FLJ10821|FLJ23789|FLJ45574|KIAA0399|MGC166929|ZZZ4 zinc finger ZZ-type and EF-hand domain-containing protein 1|zinc finger, ZZ-type with EF hand domain 1|zinc finger, zz-type with ef hand domain 1 protein-coding 1351388 ZZZ3 zinc finger, ZZ-type containing 3 737633 14702039,12477932,16428443 737633 26009 NM_015534,AC093575,AC114487,AC118549,CH471059,AK001224,AK074119,AK310514,AL080063,BC035079,BC035397,BC035818,BX640658,BX640766,BX641001,BX641096,CR616391 NP_056349,EAX06372,EAX06373,EAX06374,EAX06375,EAX06376,BAB84945,CAB45694,AAH35079,AAH35397,AAH35818,CAE45800,CAE45870,CAE46004,Q8IYH5 Hs.480506 ATAC1|DKFZp313N0119|DKFZp564I052|FLJ10362 ATAC component 1 homolog|OTTHUMP00000011236|ZZ-type zinc finger-containing protein 3|zinc finger, ZZ domain containing 3|zinc finger, zz domain containing 3 protein-coding 2903113 dJ341D10.1 chondroitin beta1,4 N-acetylgalactosaminyltransferase (ChGn) pseudogene 286453 NG_021119 pseudo